diff --git a/.gitignore b/.gitignore index 08d8e97..c59e48f 100644 --- a/.gitignore +++ b/.gitignore @@ -13,37 +13,36 @@ # End of https://www.gitignore.io/api/visualstudiocode personal-config.ini -environment_setup.py -clinical/src/full_trial_data/ -clinical/src/chromedriver -clinical/src/ctgov_nctids.json -clinical/src/ctgov_webscraped_names.csv -clinical/src/all_queries/ -clinical/src/metamap_cond.txt -clinical/src/metamap_gard.txt -clinical/src/metamap_cond_out.json -pubmed/src/ -gard/src/*.csv -gard/src/*.json -gard/src/*.txt +RDAS.CTKG/src/full_trial_data/ +RDAS.CTKG/src/chromedriver +RDAS.CTKG/src/ctgov_nctids.json +RDAS.CTKG/src/ctgov_webscraped_names.csv +RDAS.CTKG/src/all_queries/ +RDAS.CTKG/src/metamap_cond.txt +RDAS.CTKG/src/metamap_gard.txt +RDAS.CTKG/src/metamap_cond_out.json +RDAS.PAKG/src/ +RDAS.CTKG/src/*.csv +RDAS.CTKG/src/*.json +RDAS.CTKG/src/*.txt __pycache__/ -clinical/__pycache__/ -grant/__pycache__/ -pubmed/__pycache__/ -pubmed/init_new.py -pubmed/methods_new.py -pubmed/archive/ -grant/archive/ -gard/__pycache__/ +RDAS.CTKG/__pycache__/ +RDAS.GFKG/__pycache__/ +RDAS.PAKG/__pycache__/ +RDAS.PAKG/init_new.py +RDAS.PAKG/methods_new.py +RDAS.PAKG/archive/ +RDAS.GFKG/archive/ +RDAS.CTKG/__pycache__/ email/__pycache__/ transfer/*.dump transfer/*.dump backup/*/*.dump migrated/*.dump approved/*.dump -grant/src/**/**/*.csv -grant/src/**/**/*.json -grant/src/**/**/*.zip +RDAS.GFKG/src/**/**/*.csv +RDAS.GFKG/src/**/**/*.json +RDAS.GFKG/src/**/**/*.zip grant_2024/src/**/**/*.csv grant_2024/src/**/**/*.json crt/*.json @@ -76,10 +75,29 @@ add_participant.txt epifix.py grant_pipeline.txt result.json -pubmed/test_affiliation.py -pubmed/test_genereview.py +RDAS.PAKG/test_affiliation.py +RDAS.PAKG/test_genereview.py test_affiliation.txt logs/ terms_mapped.csv terms_unmapped.csv test_term_map.py +RDAS.CTKG/src/ids_to_add.csv +RDAS.CTKG/src/ids_to_update.csv + +RDAS.CTKG/src/ids_to_update_confirmed.csv +GARD_disease_classification.csv +gather_RDAS.GFKG_funding_remove.py +RDAS.GFKG_funding_rdas.csv +fixyear.py +fixRDAS.PAKGapi.py +config.ini +Cluster 7.csv +codecamp.py +cluster_trials.csv +fixpubmedapi.py +gather_grant_funding_remove.py +grant_funding_rdas.csv +thingforyanji.py +deliverablesyanji +NCATS COLLABORATION \ No newline at end of file diff --git a/clinical/init.py b/RDAS.CTKG/init.py similarity index 100% rename from clinical/init.py rename to RDAS.CTKG/init.py diff --git a/clinical/methods.py b/RDAS.CTKG/methods.py similarity index 92% rename from clinical/methods.py rename to RDAS.CTKG/methods.py index ada52a5..16a913b 100644 --- a/clinical/methods.py +++ b/RDAS.CTKG/methods.py @@ -22,6 +22,7 @@ from nltk.stem import PorterStemmer nltk.download("punkt") from spacy.matcher import Matcher +import spacy from fuzzywuzzy import fuzz import string from transformers import AutoTokenizer, AutoModelForTokenClassification @@ -128,23 +129,29 @@ def get_nctids(name_list): response = requests.get(initial_query + query_end1).text.splitlines() total_trials = int(response[4][16:-1]) - # Add trials to a temporary list - trials = list() - for trial in response[11:]: - trials.append(trial.split(',')[1][1:-1]) - - # Break into extra queries of 1000 trials if necessary - for rank in range(1, total_trials//1000 + 1): - # Get next 1000 trials - query_end2 = 'min_rnk=' + str(rank*1000+1) + '&max_rnk=' + str((rank+1)*1000) + '&fmt=csv' - response = requests.get(initial_query + query_end2).text.splitlines() - - # Add trials to the temporary list + try: + # Add trials to a temporary list + trials = list() for trial in response[11:]: trials.append(trial.split(',')[1][1:-1]) - # Add the trials from the temporary list to the overall list - all_trials += trials + # Break into extra queries of 1000 trials if necessary + for rank in range(1, total_trials//1000 + 1): + # Get next 1000 trials + query_end2 = 'min_rnk=' + str(rank*1000+1) + '&max_rnk=' + str((rank+1)*1000) + '&fmt=csv' + response = requests.get(initial_query + query_end2).text.splitlines() + + # Add trials to the temporary list + for trial in response[11:]: + trials.append(trial.split(',')[1][1:-1]) + + # Add the trials from the temporary list to the overall list + all_trials += trials + + except Exception as e: + print(e) + print(initial_query + query_end2) + print(trial) # Return the list of all retrived NCTIDs return all_trials @@ -256,6 +263,19 @@ def extract_fields(nctid): return full_trial +def get_lastupdated_postdate (ID): + postdate_query = f'https://clinicaltrials.gov/api/query/field_values?expr={ID}&field=LastUpdatePostDate&fmt=json' + try: + # Make the API request and parse the JSON response + full_response = requests.get(postdate_query).json() + postdate = full_response['FieldValuesResponse']['FieldValues'][0]['FieldValue'] + + return postdate + + except ValueError: + # Return None if there is an issue with the JSON response + return None + def cypher_generate(db,now,NCTID,data,node_type,update=None,return_single=None): @@ -432,6 +452,7 @@ def unpack_nested_data (db, now, nctid, trial, node_type): #ALSO POSTPONED #create_leaf_nodes(db, trial, node_id, node_type) """ + queries = None if node_type == 'ClinicalTrial': tokenizer = AutoTokenizer.from_pretrained("dslim/bert-base-NER") @@ -835,22 +856,23 @@ def condition_map(db, update_metamap=True): print('RUNNING GARD POPULATION') # Fetch GARD entries from the database - gard_res = gard_db.run('MATCH (x:GARD) RETURN x.GardId as GardId, x.GardName as GardName, x.Synonyms as Synonyms, x.UMLS as gUMLS, x.UMLS_Source as usource') + gard_res = gard_db.run('MATCH (x:GARD) RETURN x.GardId as GardId, x.UMLS as gUMLS, x.GardName as GardName, x.Synonyms as Synonyms, x.UMLS_Source as usource') for gres in gard_res.data(): gUMLS = gres['gUMLS'] name = gres['GardName'] gard_id = gres['GardId'] syns = gres['Synonyms'] + usource = gres['usource'] # Check if UMLS data is present and create GARD node accordingly if gUMLS: - db.run('MERGE (x:GARD {{GardId:\"{gard_id}\",GardName:\"{name}\",Synonyms:{syns},UMLS:{gUMLS},UMLS_Source:\"{usource}\"}})'.format(name=gres['GardName'],gard_id=gres['GardId'],syns=gres['Synonyms'],gUMLS=gres['gUMLS'],usource=gres['usource'])) + db.run('MERGE (x:GARD {{GardId:\"{gard_id}\",GardName:\"{name}\",Synonyms:{syns},UMLS:{gUMLS},UMLS_Source:\"{usource}\"}})'.format(name=name,gard_id=gard_id,syns=syns,gUMLS=gUMLS,usource=usource)) else: - db.run('MERGE (x:GARD {{GardId:\"{gard_id}\",GardName:\"{name}\",Synonyms:{syns},UMLS_Source:\"{usource}\"}})'.format(name=gres['GardName'],gard_id=gres['GardId'],syns=gres['Synonyms'],usource=gres['usource'])) + db.run('MERGE (x:GARD {{GardId:\"{gard_id}\",GardName:\"{name}\",Synonyms:{syns},UMLS_Source:\"{usource}\"}})'.format(name=name,gard_id=gard_id,syns=syns,usource=usource)) print('RUNNING METAMAP') - # Fetch conditions from the database - res = db.run('MATCH (c:Condition) RETURN c.Condition as condition, ID(c) as cond_id') + # Fetch conditions from the database that havent already been annotated and are not acronyms + res = db.run('MATCH (c:Condition) WHERE NOT EXISTS((c)--(:Annotation)) RETURN c.Condition as condition, ID(c) as cond_id') cond_strs = [f"{i['cond_id']}|{normalize(i['condition'])}\n" for i in res if not is_acronym(i['condition'])] # Write condition strings to a file for MetaMap processing @@ -915,8 +937,8 @@ def condition_map(db, update_metamap=True): db.run(query) print('CREATING AND CONNECTING METAMAP ANNOTATIONS') - # Delete existing annotations - db.run('MATCH (x:Annotation) DETACH DELETE x') + # Delete existing annotations DONT NEED, REMOVE STEP + #db.run('MATCH (x:Annotation) DETACH DELETE x') # Fetch relevant data from Condition nodes res = db.run('MATCH (x:Condition) WHERE x.METAMAP_OUTPUT IS NOT NULL RETURN ID(x) AS cond_id, x.METAMAP_OUTPUT AS cumls, x.METAMAP_PREFERRED_TERM AS prefs, x.FUZZY_SCORE as fuzz, x.METAMAP_SCORE as meta').data() @@ -941,10 +963,10 @@ def condition_map(db, update_metamap=True): gard_ids = gard_ids['gard_id'] for gard_id in gard_ids: # Create Annotation nodes and connect to Condition and GARD nodes - db.run('MATCH (z:GARD) WHERE z.GardId = \"{gard_id}\" MATCH (y:Condition) WHERE ID(y) = {cond_id} MERGE (x:Annotation {{UMLS: \"{umls}\", CandidatePreferred: \"{pref}\", SEMANTIC_TYPE: {sems}, MATCH_TYPE: \"METAMAP\"}}) MERGE (x)<-[:has_annotation {{FUZZY_SCORE: {fuzz}, METAMAP_SCORE: {meta}}}]-(y) MERGE (z)<-[:mapped_to_gard]-(x)'.format(gard_id=gard_id,cond_id=cond_id,umls=umls,pref=prefs[idx],sems=sems[idx],fuzz=fuzzy_scores[idx],meta=meta_scores[idx])) + db.run('MATCH (z:GARD) WHERE z.GardId = \"{gard_id}\" MATCH (y:Condition) WHERE ID(y) = {cond_id} MERGE (x:Annotation {{UMLS_CUI: \"{umls}\", UMLSPreferredName: \"{pref}\", SEMANTIC_TYPE: {sems}, MATCH_TYPE: \"METAMAP\"}}) MERGE (x)<-[:has_annotation {{FUZZY_SCORE: {fuzz}, METAMAP_SCORE: {meta}}}]-(y) MERGE (z)<-[:mapped_to_gard]-(x)'.format(gard_id=gard_id,cond_id=cond_id,umls=umls,pref=prefs[idx],sems=sems[idx],fuzz=fuzzy_scores[idx],meta=meta_scores[idx])) else: # Create Annotation nodes and connect to Condition nodes - db.run('MATCH (y:Condition) WHERE ID(y) = {cond_id} MERGE (x:Annotation {{UMLS: \"{umls}\", CandidatePreferred: \"{pref}\", SEMANTIC_TYPE: {sems}, MATCH_TYPE: \"METAMAP\"}}) MERGE (x)<-[:has_annotation {{FUZZY_SCORE: {fuzz}, METAMAP_SCORE: {meta}}}]-(y)'.format(cond_id=cond_id,umls=umls,pref=prefs[idx],sems=sems[idx],fuzz=fuzzy_scores[idx],meta=meta_scores[idx])) + db.run('MATCH (y:Condition) WHERE ID(y) = {cond_id} MERGE (x:Annotation {{UMLS_CUI: \"{umls}\", UMLSPreferredName: \"{pref}\", SEMANTIC_TYPE: {sems}, MATCH_TYPE: \"METAMAP\"}}) MERGE (x)<-[:has_annotation {{FUZZY_SCORE: {fuzz}, METAMAP_SCORE: {meta}}}]-(y)'.format(cond_id=cond_id,umls=umls,pref=prefs[idx],sems=sems[idx],fuzz=fuzzy_scores[idx],meta=meta_scores[idx])) print('REMOVING UNNEEDED PROPERTIES') # Remove unnecessary properties from Condition nodes that were used during processing @@ -958,7 +980,7 @@ def condition_map(db, update_metamap=True): for entry in res: cond_id = entry['cond_id'] cond = entry['cond'] - db.run('MATCH (x:GARD) WHERE toLower(x.GardName) = toLower(\"{cond}\") MATCH (y:Condition) WHERE ID(y) = {cond_id} MERGE (z:Annotation {{CandidatePreferred: \"{cond}\", MATCH_TYPE: \"STRING\"}}) MERGE (z)<-[:has_annotation]-(y) MERGE (x)<-[:mapped_to_gard]-(z)'.format(cond=cond,cond_id=cond_id)) + db.run('MATCH (x:GARD) WHERE toLower(x.GardName) = toLower(\"{cond}\") MATCH (y:Condition) WHERE ID(y) = {cond_id} MERGE (z:Annotation {{UMLSPreferredName: \"{cond}\", MATCH_TYPE: \"STRING\"}}) MERGE (z)<-[:has_annotation]-(y) MERGE (x)<-[:mapped_to_gard]-(z)'.format(cond=cond,cond_id=cond_id)) @@ -1006,6 +1028,7 @@ def create_drug_connection(db,rxdata,drug_id,wspacy=False): # Create or merge Drug node with RxNormID db.run('MATCH (x:Intervention) WHERE ID(x)={drug_id} MERGE (y:Drug {{RxNormID:{rxnormid}}}) MERGE (y)<-[:mapped_to_rxnorm {{WITH_SPACY: {wspacy}}}]-(x)'.format(rxnormid=rxnormid, drug_id=drug_id, wspacy=wspacy)) + print(f'MAPPED {rxnormid}') # Set additional properties on the Drug node for k,v in rxdata.items(): @@ -1090,7 +1113,7 @@ def nlp_to_drug(db,doc,matches,drug_name,drug_id): -def rxnorm_map(db): +def rxnorm_map(db, rxnorm_progress): """ Map RxNorm data to Drug Interventions in the Neo4j database. @@ -1109,11 +1132,18 @@ def rxnorm_map(db): matcher = Matcher(nlp.vocab) matcher.add('DRUG',[pattern]) - # Retrieve drug interventions from the database - results = db.run('MATCH (x:Intervention) WHERE x.InterventionType = "Drug" RETURN x.InterventionName, ID(x)').data() + # Retrieve drug interventions from the database that do NOT already have a Drug node attached + results = db.run('MATCH (x:Intervention) WHERE x.InterventionType = "Drug" AND NOT EXISTS((x)--(:Drug)) RETURN x.InterventionName, ID(x)').data() + length = len(results) # Iterate over drug interventions and map RxNorm data for idx,res in enumerate(results): + if idx < rxnorm_progress: + continue + + print(f'{str(idx)}/{length}') + db.setConf('UPDATE_PROGRESS', 'clinical_rxnorm_progress', str(idx)) + drug_id = res['ID(x)'] drug = res['x.InterventionName'] diff --git a/clinical/src/data_model.py b/RDAS.CTKG/src/data_model.py similarity index 100% rename from clinical/src/data_model.py rename to RDAS.CTKG/src/data_model.py diff --git a/RDAS.CTKG/update.py b/RDAS.CTKG/update.py new file mode 100644 index 0000000..1ce3a8e --- /dev/null +++ b/RDAS.CTKG/update.py @@ -0,0 +1,252 @@ +import os +import sys +workspace = os.path.dirname(os.path.abspath(__file__)) +sys.path.append(workspace) +from AlertCypher import AlertCypher +from src import data_model as dm +from datetime import date,datetime +import methods as rdas +from datetime import date +import sysvars +from time import sleep +import threading +import numpy as np +import csv +import json + +#FUNCTIONS FOR MULTITHREADING, COMMENTED OUT FOR NOW +""" +def process_trial_add(thr, db, today, ids_to_add): + for idx,ID in enumerate(ids_to_add): + print(thr, idx, ID) + trial_info = rdas.extract_fields(ID) + if trial_info: + print(f'Adding {ID}...') + for node_type in dm.node_names: + data_string = rdas.format_node_data(db,today,trial_info,node_type) + else: + print('Error in add for finding full trial data for ' + ID) + +def process_trial_update(thr, db, today, current_nctids, ids_to_update): + for idx,ID in enumerate(ids_to_update): + print(thr, idx, ID) + + trial_info = rdas.extract_fields(ID) + if trial_info: + if not trial_info['LastUpdatePostDate'] == current_nctids[ID]: + print('UPDATING...') + for node_type in dm.node_names: + data_string = rdas.format_node_data(db,today,trial_info,node_type,update=True) + + + #BELOW CREATES HISTORY NODE, POSTPONED FOR NOW + + #create_history_query = 'MATCH (x:ClinicalTrial {{NCTId:\"{ID}\"}}) CREATE (y:History) SET y=properties(x) CREATE (z:ClinicalTrial {data_string}) MERGE (y)<-[:updated_from]-(x) SET x=properties(z) SET x.DateCreatedRDAS=\"{today}\" SET x.LastUpdatedRDAS=\"{today}\" DELETE z return y'.format(ID=ID,data_string=data_string,today=today) + #db.run(create_history_query) + + else: + print('Error in update for finding full trial data for ' + ID) +""" + +def main(): + """ + Main function for the data processing and updating of the Clinical Trial Neo4j Database. + + Parameters: + - None + + Returns: + - None + """ + + print(f"[CT] Database Selected: {sysvars.ct_db}\nContinuing with script in 5 seconds...") + sleep(5) + + # Connect to the Neo4j database + db = AlertCypher(sysvars.ct_db) + + # Initialize variables containing NCTIDs to add and update + ids_to_update = list() + ids_to_add = list() + # Retrieve NCT IDs and last update dates from the database + response = db.run('MATCH (x:ClinicalTrial) RETURN x.NCTId,x.LastUpdatePostDate').data() + current_nctids = {i['x.NCTId']:i['x.LastUpdatePostDate'] for i in response} + + # Get the current date + today = date.today().strftime('%m/%d/%y') + refreshed_ctgov_trials = list() + + in_progress = db.getConf('UPDATE_PROGRESS', 'clinical_in_progress') + print(f'in_progress:: {in_progress}') + if in_progress == 'True': + with open(f'{sysvars.ct_files_path}ids_to_add.csv', 'r') as file1: + ids_to_add = [line.rstrip('\n') for line in file1] + with open(f'{sysvars.ct_files_path}ids_to_update.csv', 'r') as file2: + ids_to_update = [line.rstrip('\n') for line in file2] + + else: + # Set database config to say that database is in middle of an update and has not finished + db.setConf('UPDATE_PROGRESS', 'clinical_in_progress', 'True') + + print('Webscraping rare disease list') + # Webscrape rare disease list from ClinicalTrials.gov + ctgov_diseases,listed_trials = rdas.webscrape_ctgov_diseases() + + # Get NCT IDs for each disease + for idx,ct_disease in enumerate(ctgov_diseases): + ctgov_trials = rdas.get_nctids([ct_disease]) + refreshed_ctgov_trials.extend(ctgov_trials) + print(idx, ct_disease, len(ctgov_trials)) + + length = len(refreshed_ctgov_trials) + + print('Sorting trials to update and addition lists') + + # Check which trials to update and add + for idx,k in enumerate(refreshed_ctgov_trials): #current_nctids + if not k in current_nctids.keys(): #refreshed_ctgov_trials + print(f'NCTID {k} NOT IN REFRESHED LIST, CHECKING FOR UPDATE') + exist = db.run('MATCH (x:ClinicalTrial) WHERE x.NCTId = \"{k}\" RETURN x.NCTId'.format(k=k)).data() + if len(exist) == 0: + print('+',end="") + ids_to_add.append(k) + else: + print('.',end="") + ids_to_update.append(k) + print(str(idx) + '/' + str(length)) + + # There are duplicate trials because of the combined lists, remove duplicates + ids_to_update = list(set(ids_to_update)) + + # Save lists of ids in case error occurs during update + with open(f'{sysvars.ct_files_path}ids_to_add.csv', 'w') as f: + wr = csv.writer(f,delimiter="\n") + wr.writerow(ids_to_add) + with open(f'{sysvars.ct_files_path}ids_to_update.csv', 'w') as f: + wr = csv.writer(f,delimiter="\n") + wr.writerow(ids_to_update) + + print('lists of ids to add and update added locally') + + print("") + print('Checking ' + str(len(ids_to_update)) + ' Trials in Refreshed List for Updates') + print('Adding ' + str(len(ids_to_add)) + ' Brand New Trials') + + if in_progress == 'True': + clinical_add_progress = db.getConf('UPDATE_PROGRESS', 'clinical_add_progress') + if not clinical_add_progress == '': + clinical_add_progress = int(clinical_add_progress) + else: + clinical_add_progress = 0 + + clinical_update_progress = db.getConf('UPDATE_PROGRESS', 'clinical_update_progress') + if not clinical_update_progress == '': + clinical_update_progress = int(clinical_update_progress) + else: + clinical_update_progress = 0 + + clinical_required_update_progress = db.getConf('UPDATE_PROGRESS', 'clinical_required_update_progress') + if not clinical_required_update_progress == '': + clinical_required_update_progress = int(clinical_required_update_progress) + else: + clinical_required_update_progress = 0 + + clinical_rxnorm_progress = db.getConf('UPDATE_PROGRESS', 'clinical_rxnorm_progress') + if not clinical_rxnorm_progress == '': + clinical_rxnorm_progress = int(clinical_rxnorm_progress) + else: + clinical_required_update_progress = 0 + + clinical_current_step = db.getConf('UPDATE_PROGRESS', 'clinical_current_step') + + else: + clinical_add_progress = 0 + clinical_update_progress = 0 + clinical_required_update_progress = 0 + clinical_rxnorm_progress = 0 + clinical_current_step = '' + + # Add brand new trials + print('Adding non existent trials in database') + for idx,ID in enumerate(ids_to_add): + if idx < clinical_add_progress: + continue + + db.setConf('UPDATE_PROGRESS', 'clinical_add_progress', str(idx)) + print(idx, ID) + + trial_info = rdas.extract_fields(ID) + if trial_info: + print(f'Adding {ID}...') + for node_type in dm.node_names: + data_string = rdas.format_node_data(db,today,trial_info,node_type,ID) + else: + print('Error in add for finding full trial data for ' + ID) + + # Update trials already in the database + print('Updating trials already in database') + # Starts a new file if file exists but in_progress is false + if in_progress == 'False' and os.path.exists(f'{sysvars.ct_files_path}ids_to_update_confirmed.csv'): + os.remove(f'{sysvars.ct_files_path}ids_to_update_confirmed.csv') + + required_updates_nctids = list() + # If update date files already exists and update in progress, load existing file + if in_progress == 'True' and os.path.exists(f'{sysvars.ct_files_path}ids_to_update_confirmed.csv'): + with open(f'{sysvars.ct_files_path}ids_to_update_confirmed.csv', 'r') as file3: + required_updates_nctids = [line.rstrip('\n') for line in file3] + + # If update is in progress and file does not exist, create the file + else: + print('Sorting our clinical trials that actually need updates') + for idx,ID in enumerate(ids_to_update): + if idx < clinical_required_update_progress: + continue + db.setConf('UPDATE_PROGRESS', 'clinical_required_update_progress', str(idx)) + print(str(idx)) + + postdate = rdas.get_lastupdated_postdate(ID) + if postdate: + if not postdate == current_nctids[ID]: + with open(f'{sysvars.ct_files_path}ids_to_update_confirmed.csv', 'a') as f: + wr = csv.writer(f,delimiter="\n") + wr.writerow([ID]) + + for idx,ID in enumerate(required_updates_nctids): + if idx < clinical_update_progress: + continue + db.setConf('UPDATE_PROGRESS', 'clinical_update_progress', str(idx)) + print(idx, ID) + + trial_info = rdas.extract_fields(ID) + if trial_info: + for node_type in dm.node_names: + data_string = rdas.format_node_data(db,today,trial_info,node_type,ID,update=True) + else: + print('Error in add for finding full trial data for ' + ID) + + + #BELOW CREATES HISTORY NODE, POSTPONED FOR NOW + + #create_history_query = 'MATCH (x:ClinicalTrial {{NCTId:\"{ID}\"}}) CREATE (y:History) SET y=properties(x) CREATE (z:ClinicalTrial {data_string}) MERGE (y)<-[:updated_from]-(x) SET x=properties(z) SET x.DateCreatedRDAS=\"{today}\" SET x.LastUpdatedRDAS=\"{today}\" DELETE z return y'.format(ID=ID,data_string=data_string,today=today) + #db.run(create_history_query) + + # Perform condition mapping + if clinical_current_step == '': + rdas.condition_map(db) + db.setConf('UPDATE_PROGRESS', 'clinical_current_step', 'rxnorm_map') + + # Perform RxNorm mapping + if clinical_current_step == 'rxnorm_map': + rdas.rxnorm_map(db, clinical_rxnorm_progress) + + # Update config values + db.setConf('DATABASE', 'clinical_update', datetime.strftime(datetime.now(),"%m/%d/%y")) + db.setConf('UPDATE_PROGRESS', 'clinical_in_progress', 'False') + db.setConf('UPDATE_PROGRESS', 'clinical_add_progress', '') + db.setConf('UPDATE_PROGRESS', 'clinical_current_step', '') + db.setConf('UPDATE_PROGRESS', 'clinical_update_progress', '') + db.setConf('UPDATE_PROGRESS', 'clinical_rxnorm_progress', '') + db.setConf('UPDATE_PROGRESS', 'clinical_required_update_progress', '') + +if __name__ == "__main__": + main() diff --git a/gard/init.py b/RDAS.GARD/init.py similarity index 100% rename from gard/init.py rename to RDAS.GARD/init.py diff --git a/gard/methods.py b/RDAS.GARD/methods.py similarity index 100% rename from gard/methods.py rename to RDAS.GARD/methods.py diff --git a/RDAS.GARD/src/GARD.csv b/RDAS.GARD/src/GARD.csv new file mode 100644 index 0000000..f3595d0 --- /dev/null +++ b/RDAS.GARD/src/GARD.csv @@ -0,0 +1,12005 @@ +GardID,DataSource,SourceID,ClassificationLevel,DisorderType,Name,Synonym +GARD:0000001,Orphanet,ORPHA:53693,Disorder,Disease,GRACILE syndrome,Fellman disease|Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome +GARD:0000003,Orphanet,ORPHA:920,Disorder,Malformation syndrome,Ablepharon macrostomia syndrome, +GARD:0000005,Orphanet,ORPHA:14,Disorder,Disease,Abetalipoproteinemia,Bassen-Kornzweig disease|Homozygous familial hypobetalipoproteinemia +GARD:0000006,Orphanet,ORPHA:93437,Group of disorders,Clinical group,Acromesomelic dysplasia, +GARD:0000007,Orphanet,ORPHA:969,Disorder,Malformation syndrome,Acromicric dysplasia, +GARD:0000011,Orphanet,ORPHA:2131,Disorder,Disease,Alternating hemiplegia of childhood,AHC +GARD:0000012,Orphanet,ORPHA:31740,Group of disorders,Clinical group,Hypersensitivity pneumonitis,Extrinsic allergic alveolitis +GARD:0000013,Orphanet,ORPHA:1065,Disorder,Malformation syndrome,Aniridia-cerebellar ataxia-intellectual disability syndrome,Gillespie syndrome +GARD:0000016,Orphanet,ORPHA:1125,Disorder,Disease,"Ocular motor apraxia, Cogan type","Oculomotor apraxia, Cogan type" +GARD:0000017,Orphanet,ORPHA:2356,Disorder,Morphological anomaly,Arachnoid cyst, +GARD:0000019,Orphanet,ORPHA:1675,Disorder,Disease,Dihydropyrimidine dehydrogenase deficiency,Familial pyrimidinemia +GARD:0000022,Orphanet,ORPHA:123,Disorder,Disease,Björnstad syndrome,Deafness-pili torti-hypogonadism syndrome|Hearing loss-pili torti-hypogonadism syndrome +GARD:0000023,Orphanet,ORPHA:126,Disorder,Malformation syndrome,Blepharophimosis-ptosis-epicanthus inversus syndrome,BPES +GARD:0000026,Orphanet,ORPHA:195,Disorder,Malformation syndrome,Cat-eye syndrome,CES +GARD:0000027,Orphanet,ORPHA:50839,Disorder,Disease,Cat-scratch disease,Bartonellosis due to Bartonella henselae infection +GARD:0000028,Orphanet,ORPHA:1388,Disorder,Malformation syndrome,Catel-Manzke syndrome,"Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome|Index finger anomaly-Pierre Robin syndrome|Micrognathia digital syndrome|Palatodigital syndrome, Catel-Manzke type|Pierre Robin sequence-hyperphalangy-clinodactyly syndrome|Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome" +GARD:0000029,Orphanet,ORPHA:138,Disorder,Malformation syndrome,CHARGE syndrome,CHARGE association|Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|Hall-Hittner syndrome +GARD:0000031,Orphanet,ORPHA:35686,Disorder,Disease,Serpiginous choroiditis,Geographic helicoid peripapillary choroidopathy +GARD:0000035,Orphanet,ORPHA:3307,Disorder,Malformation syndrome,Tetrasomy 18p,Isochromosome 18p +GARD:0000037,Orphanet,ORPHA:261875,Group of disorders,Category,Partial deletion of the short arm of chromosome 3,Partial deletion of chromosome 3p|Partial monosomy of chromosome 3p|Partial monosomy of the short arm of chromosome 3 +GARD:0000039,Orphanet,ORPHA:3466,Disorder,Disease,WT limb-blood syndrome, +GARD:0000042,Orphanet,ORPHA:3310,Disorder,Malformation syndrome,Tetrasomy 9p,Isochromosome 9p +GARD:0000043,Orphanet,ORPHA:99776,Disorder,Malformation syndrome,Mosaic trisomy 9,Mosaic trisomy chromosome 9|Trisomy 9 mosaicism +GARD:0000044,Orphanet,ORPHA:2342,Disorder,Disease,Haim-Munk syndrome,Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome|Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome|Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome +GARD:0000045,Orphanet,ORPHA:291,Disorder,Disease,Congenital varicella syndrome,Antenatal varicella virus infection|Mother-to-child transmission of varicella syndrome +GARD:0000047,Orphanet,ORPHA:79234,Subtype of disorder,Clinical subtype,Crigler-Najjar syndrome type 1,Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1|Bilirubin-UGT deficiency type 1 +GARD:0000048,Orphanet,ORPHA:254905,Disorder,Disease,Isolated cytochrome C oxidase deficiency,Isolated COX deficiency|Isolated mitochondrial respiratory chain complex IV deficiency +GARD:0000049,Orphanet,ORPHA:2962,Disorder,Disease,De Barsy syndrome,"Cutis laxa-corneal clouding-intellectual disability syndrome|Progeroid syndrome, De Barsy type" +GARD:0000054,Orphanet,ORPHA:1203,Disorder,Morphological anomaly,Duodenal atresia, +GARD:0000059,Orphanet,ORPHA:1955,Disorder,Disease,Spinocerebellar ataxia type 34,Erythrokeratodermia with ataxia|SCA34|Spinocerebellar ataxia and erythrokeratodermia +GARD:0000060,Orphanet,ORPHA:64734,Disorder,Disease,Iridocorneal endothelial syndrome,ICE syndrome +GARD:0000061,Orphanet,ORPHA:1988,Disorder,Malformation syndrome,Femoral-facial syndrome,FFS|FHUFS|Femoral hypoplasia-unusual facies syndrome +GARD:0000062,Orphanet,ORPHA:3255,Disorder,Malformation syndrome,Filippi syndrome,Type 1 syndactyly-microcephaly-intellectual disability syndrome +GARD:0000064,Orphanet,ORPHA:3219,Disorder,Malformation syndrome,Fountain syndrome,Deafness-skeletal dysplasia-coarse face with full lips syndrome|Deafness-skeletal dysplasia-lip granuloma syndrome|Hearing loss-skeletal dysplasia-coarse face with full lips syndrome|Hearing loss-skeletal dysplasia-lip granuloma syndrome +GARD:0000065,Orphanet,ORPHA:2065,Disorder,Malformation syndrome,Galloway-Mowat syndrome,Galloway syndrome|Microcephaly-hiatus hernia-nephrotic syndrome|Nephrosis-neuronal dysmigration syndrome +GARD:0000066,Orphanet,ORPHA:2095,Disorder,Malformation syndrome,Gorlin-Chaudhry-Moss syndrome,"Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome|Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome|Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome|GCM syndrome" +GARD:0000068,Orphanet,ORPHA:989,Disorder,Malformation syndrome,Hypoglossia-hypodactyly syndrome,Aglossia-adactylia syndrome|Hanhart syndrome|Jussieu syndrome +GARD:0000069,Orphanet,ORPHA:319247,Disorder,Disease,Hantavirus pulmonary syndrome, +GARD:0000070,Orphanet,ORPHA:2330,Disorder,Disease,Kasabach-Merritt syndrome,Hemangioma-thrombocytopenia syndrome +GARD:0000073,Orphanet,ORPHA:101088,Subtype of disorder,Clinical subtype,X-linked hyper-IgM syndrome,HIGM1|Hyper-IgM syndrome due to CD40 ligand deficiency|Hyper-IgM syndrome due to CD40L deficiency|Hyper-IgM syndrome type 1|XHIGM +GARD:0000076,Orphanet,ORPHA:238468,Disorder,Disease,Hypohidrotic ectodermal dysplasia,Anhidrotic ectodermal dysplasia|HED +GARD:0000079,Orphanet,ORPHA:33067,Disorder,Disease,"Metaphyseal chondrodysplasia, Jansen type", +GARD:0000080,Orphanet,ORPHA:2315,Disorder,Malformation syndrome,Johanson-Blizzard syndrome,JBS +GARD:0000081,Orphanet+OMIM,OMIM:309590,Subtype of disorder,Disease subtype,"Intellectual developmental disorder, x-linked, syndromic, turner type","mental retardation and macrocephaly syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|juberg-marsidi syndrome|mental retardation, x-linked, syndromic, brooks-wisniewski-brown type|Mental retardation, x-linked, syndromic, turner type|brooks-wisniewski-brown syndrome" +GARD:0000082,Orphanet,ORPHA:2332,Disorder,Malformation syndrome,KBG syndrome,Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome +GARD:0000083,Orphanet,ORPHA:93325,Subtype of disorder,Etiological subtype,Autosomal dominant Kenny-Caffey syndrome, +GARD:0000084,Orphanet+OMIM,OMIM:608594,Subtype of disorder,Disease subtype,"Lipodystrophy, congenital generalized, type 1","lipodystrophy, berardinelli-seip congenital, type 1|Berardinelli-seip congenital lipodystrophy, type 1|brunzell syndrome, agpat2-related" +GARD:0000085,Orphanet,ORPHA:2655,Disorder,Disease,Thanatophoric dysplasia,TD +GARD:0000086,Orphanet,ORPHA:314597,Disorder,Malformation syndrome,Chudley-McCullough syndrome, +GARD:0000087,Orphanet,ORPHA:568,Disorder,Malformation syndrome,"Microphthalmia, Lenz type",Lenz microphthalmia +GARD:0000088,Orphanet,ORPHA:2900,Disorder,Malformation syndrome,Leri pleonosteosis, +GARD:0000092,Orphanet,ORPHA:87503,Disorder,Disease,Mal de Meleda,Keratosis palmoplantaris transgrediens of Siemens|Meleda disease|Transgrediens palmoplantar keratoderma of Siemens +GARD:0000093,Orphanet,ORPHA:573,Disorder,Disease,Monilethrix,Moniliform hair syndrome +GARD:0000094,Orphanet,ORPHA:578,Disorder,Disease,Mucolipidosis type IV, +GARD:0000095,Orphanet,ORPHA:2576,Disorder,Malformation syndrome,Mulibrey nanism,MUL|Mulibrey growth disorder|Muscle-liver-brain-eye nanism +GARD:0000101,Orphanet,ORPHA:595,Group of disorders,Clinical group,Centronuclear myopathy,CNM +GARD:0000102,Orphanet,ORPHA:2671,Disorder,Malformation syndrome,Neu-Laxova syndrome, +GARD:0000104,Orphanet,ORPHA:2704,Disorder,Malformation syndrome,Ochoa syndrome,Hydronephrosis-inverted smile syndrome|Inverted smile-neurogenic bladder syndrome|Partial facial palsy with urinary abnormalities|Urofacial syndrome +GARD:0000105,Orphanet,ORPHA:2719,Disorder,Malformation syndrome,"Oculocerebral hypopigmentation syndrome, Cross type",Cross syndrome +GARD:0000106,Orphanet,ORPHA:1647,Disorder,Malformation syndrome,Oculocerebrocutaneous syndrome,Delleman syndrome|Delleman-Oorthuys syndrome|Leichtman-Wood-Rohn syndrome|OCCS|Orbital cyst with cerebral and focal dermal malformations +GARD:0000108,Orphanet,ORPHA:206583,Subtype of disorder,Clinical subtype,Adult polyglucosan body disease,APBD +GARD:0000109,Orphanet,ORPHA:2762,Disorder,Malformation syndrome,Progressive osseous heteroplasia,Familial ectopic ossification|POH +GARD:0000111,Orphanet,ORPHA:60032,Disorder,Disease,Recurrent respiratory papillomatosis, +GARD:0000112,Orphanet,ORPHA:70587,Disorder,Disease,Infant acute respiratory distress syndrome,Hyaline membrane disease|Infant ARDS|Infant respiratory distress syndrome|Neonatal respiratory distress syndrome +GARD:0000114,Orphanet,ORPHA:99014,Disorder,Disease,X-linked Charcot-Marie-Tooth disease type 5,CMT5X|CMTX5 +GARD:0000116,Orphanet,ORPHA:79279,Subtype of disorder,Clinical subtype,Alpha-N-acetylgalactosaminidase deficiency type 1,NAGA deficiency type 1|Schindler disease type 1 +GARD:0000117,Orphanet,ORPHA:798,Disorder,Malformation syndrome,Schinzel-Giedion syndrome,SGS +GARD:0000118,Orphanet,ORPHA:3138,Disorder,Malformation syndrome,Ulnar-mammary syndrome,Pallister ulnar-mammary syndrome|Schinzel syndrome|UMS +GARD:0000121,Orphanet,ORPHA:1807,Subtype of disorder,Clinical subtype,Focal facial dermal dysplasia type III,"FFDD type III|FFDD3|Focal facial dermal dysplasia 3, Setleis type|Setleis syndrome" +GARD:0000122,Orphanet,ORPHA:85191,Disorder,Malformation syndrome,Singleton-Merten dysplasia,Singleton-Merten syndrome +GARD:0000125,Orphanet,ORPHA:38,Disorder,Disease,Acrokeratoelastoidosis of Costa,AKE|PPKP3|Punctate palmoplantar hyperkeratosis type 3|Punctate palmoplantar keratoderma type 3 +GARD:0000127,Orphanet,ORPHA:3210,Disorder,Malformation syndrome,Summitt syndrome, +GARD:0000132,Orphanet,ORPHA:137807,Group of disorders,Clinical group,Primary cutaneous amyloidosis,PLCA|Primary localized cutaneous amyloidosis +GARD:0000134,Orphanet,ORPHA:93346,Disorder,Disease,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type", +GARD:0000139,Orphanet,ORPHA:615,Disorder,Disease,Familial atrial myxoma, +GARD:0000140,Orphanet,ORPHA:1201,Disorder,Morphological anomaly,Atresia of small intestine,Apple peel syndrome|Intestinal atresia type IIIb|Jejunal atresia|Jejunoileal atresia|Small intestinal atresia +GARD:0000143,Orphanet,ORPHA:2220,Disorder,Malformation syndrome,Hypertrichosis cubiti,Hairy elbows syndrome|MacDermot-Patton-Williams syndrome +GARD:0000144,Orphanet,ORPHA:2083,Disorder,Malformation syndrome,Prominent glabella-microcephaly-hypogenitalism syndrome,MacDermot-Winter syndrome +GARD:0000155,Orphanet,ORPHA:2378,Disorder,Malformation syndrome,Laurin-Sandrow syndrome,Mirror hands and feets-nasal defects syndrome|Sandrow syndrome +GARD:0000156,Orphanet,ORPHA:588,Disorder,Malformation syndrome,Muscle-eye-brain disease,MEB syndrome|Muscle-eye-brain syndrome|Santavuori congenital muscular dystrophy +GARD:0000157,Orphanet,ORPHA:2155,Disorder,Malformation syndrome,Hirschsprung disease-deafness-polydactyly syndrome,Hirschsprung disease-hearing loss-polydactyly syndrome|Santos-Mateus-Leal syndrome +GARD:0000158,Orphanet,ORPHA:3129,Disorder,Disease,Sarcosinemia,Sarcosine dehydrogenase complex deficiency +GARD:0000159,Orphanet,ORPHA:2036,Disorder,Malformation syndrome,Scalp-ear-nipple syndrome,Finlay-Marks syndrome +GARD:0000160,Orphanet,ORPHA:3130,Disorder,Disease,Satoyoshi syndrome,Komuragaeri disease +GARD:0000162,Orphanet,ORPHA:2013,Disorder,Malformation syndrome,Cleft palate-large ears-small head syndrome,Say-Barber-Hobbs syndrome +GARD:0000166,Orphanet,ORPHA:799,Disorder,Disease,Schizencephaly, +GARD:0000169,Orphanet,ORPHA:3144,Disorder,Malformation syndrome,Schneckenbecken dysplasia,Chondrodysplasia with snail-like pelvis|SLC35D1-CDG +GARD:0000172,Orphanet,ORPHA:2427,Disorder,Malformation syndrome,Macrocephaly-short stature-paraplegia syndrome,Volcke-Soekarman syndrome +GARD:0000175,Orphanet,ORPHA:309324,Subtype of disorder,Clinical subtype,"Free sialic acid storage disease, infantile form",ISSD +GARD:0000176,Orphanet,ORPHA:592,Disorder,Disease,Macrophagic myofasciitis,MMF +GARD:0000177,Orphanet,ORPHA:2432,Disorder,Malformation syndrome,Macrosomia-microphthalmia-cleft palate syndrome,Teebi-Al Saleh-Hassoon syndrome +GARD:0000178,Orphanet,ORPHA:2563,Disorder,Malformation syndrome,MOMO syndrome,Macrocephaly-obesity-mental disability-ocular abnormalities syndrome|Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome +GARD:0000180,Orphanet,ORPHA:182050,Disorder,Disease,MYH9-related disease,MYH9-RD|MYH9-related disorder|MYH9-related syndrome|MYH9-related syndromic thrombocytopenia +GARD:0000181,Orphanet,ORPHA:827,Disorder,Disease,Stargardt disease,Fundus flavimaculatus|Stargardt 1 +GARD:0000182,Orphanet,ORPHA:1243,Disorder,Disease,Best vitelliform macular dystrophy,BMD|BVMD|Best disease|Best macular dystrophy|Early-onset vitelliform macular dystrophy|Juvenile-onset vitelliform macular dystrophy|Polymorphic vitelline macular degeneration|Vitelliform macular dystrophy type 2 +GARD:0000184,Orphanet,ORPHA:662,Disorder,Disease,Yellow nail syndrome,Lymphedema with yellow nails|YNS +GARD:0000192,Orphanet,ORPHA:1381,Disorder,Malformation syndrome,Cataract-intellectual disability-anal atresia-urinary defects syndrome,Karandikar-Maria-Kamble syndrome +GARD:0000193,Orphanet,ORPHA:2745,Disorder,Malformation syndrome,Opitz GBBB syndrome,Hypertelorism-hypospadias syndrome|Hypertelorism-oesophageal abnormality-hypospadias syndrome|Hypospadias-dysphagia syndrome|Opitz BBB/G syndrome|Opitz BBBG syndrome|Opitz G/BBB syndrome|Opitz-Frias syndrome +GARD:0000194,Orphanet,ORPHA:2066,Disorder,Disease,Gamma-aminobutyric acid transaminase deficiency,GABA transaminase deficiency +GARD:0000195,Orphanet,ORPHA:682,Disorder,Disease,Hyperkalemic periodic paralysis,Adynamia episodica hereditaria|Familial hyperPP|Familial hyperkalemic periodic paralysis|Gamstorp disease|Gamstorp episodic adynamy|HYPP|HyperKPP|HyperPP|Hyperkalemic PP|Primary hyperPP|Primary hyperkalemic periodic paralysis +GARD:0000198,Orphanet,ORPHA:83419,Subtype of disorder,Clinical subtype,Proximal spinal muscular atrophy type 3,Juvenile spinal muscular atrophy|Kugelberg-Welander disease|SMA type 3|SMA type III|SMA-III|SMA3 +GARD:0000200,Orphanet,ORPHA:443079,Disorder,Disease,Central serous chorioretinopathy,CSCR +GARD:0000201,Orphanet,ORPHA:1253,Disorder,Malformation syndrome,Ascher syndrome,Blepharochalasis-double lip syndrome +GARD:0000206,Orphanet,ORPHA:655,Disorder,Disease,Nephronophthisis, +GARD:0000207,Orphanet,ORPHA:284,Disorder,Disease,Alveolar echinococcosis,Echinococcus multilocularis infection +GARD:0000212,Orphanet,ORPHA:2709,Disorder,Malformation syndrome,"Oculodental syndrome, Rutherfurd type",Gingival hypertrophy-corneal dystrophy|Rutherfurd syndrome +GARD:0000213,Orphanet,ORPHA:1834,Disorder,Malformation syndrome,Axial mesodermal dysplasia spectrum,Blastogenesis defect|Russell-Weaver-Bull syndrome +GARD:0000215,Orphanet,ORPHA:1768,Disorder,Malformation syndrome,Familial caudal dysgenesis,Rudd-Klimek syndrome +GARD:0000216,Orphanet,ORPHA:1323,Disorder,Malformation syndrome,Camptodactyly-joint contractures-facial skeletal defects syndrome,Rozin camptodactyly syndrome +GARD:0000218,Orphanet,ORPHA:3111,Disorder,Disease,Rotor syndrome,"Hyperbilirubinemia, Rotor type" +GARD:0000220,Orphanet,ORPHA:563,Disorder,Disease,Peripartum cardiomyopathy,Postpartum cardiomyopathy +GARD:0000221,Orphanet,ORPHA:217604,Group of disorders,Category,Dilated cardiomyopathy, +GARD:0000223,Orphanet,ORPHA:252175,Subtype of disorder,Clinical subtype,Vestibular schwannoma,Acoustic neurilemoma|Acoustic neurinoma|Acoustic neuroma +GARD:0000224,Orphanet,ORPHA:3015,Disorder,Malformation syndrome,Radio-renal syndrome, +GARD:0000225,Orphanet,ORPHA:93321,Disorder,Morphological anomaly,Radial hemimelia,Congenital longitudinal deficiency of the radius|Radial clubhand|Radial longitidinal meromelia|Radial ray agenesis +GARD:0000226,Orphanet,ORPHA:769,Disorder,Malformation syndrome,Rabson-Mendenhall syndrome, +GARD:0000229,Orphanet,ORPHA:1532,Disorder,Malformation syndrome,Gómez-López-Hernández syndrome,Cerebellotrigeminal-dermal dysplasia syndrome|Craniosynostosis-alopecia-brain defect syndrome +GARD:0000230,Orphanet,ORPHA:2533,Disorder,Malformation syndrome,Microcephaly-deafness-intellectual disability syndrome,Kawashima-Tsuji syndrome|Microcephaly-hearing loss-intellectual disability syndrome +GARD:0000231,Orphanet,ORPHA:135,Disorder,Disease,CACH syndrome,Childhood ataxia with diffuse central nervous system hypomyelination|Leukoencephalopathy with vanishing white matter|Myelinosis centralis diffusa +GARD:0000232,Orphanet,ORPHA:1309,Disorder,Morphological anomaly,Medullary sponge kidney,Cacchi-Ricci disease|MSK|Precalicial canalicular ectasia +GARD:0000234,Orphanet,ORPHA:941,Disorder,Disease,D-glyceric aciduria,D-glycerate kinase deficiency|D-glyceric acidemia +GARD:0000236,Orphanet,ORPHA:2186,Disorder,Malformation syndrome,Hydrocephalus-blue sclerae-nephropathy syndrome,Daentl-Townsend-Siegel syndrome +GARD:0000237,Orphanet,ORPHA:1563,Disorder,Malformation syndrome,Dahlberg-Borer-Newcomer syndrome,Dahlberg syndrome|Lymphedema-hypoparathyroidism syndrome +GARD:0000238,Orphanet,ORPHA:2724,Disorder,Malformation syndrome,Odontomatosis-aortae esophagus stenosis syndrome,Boder syndrome +GARD:0000239,Orphanet,ORPHA:3132,Disorder,Malformation syndrome,Say-Barber-Miller syndrome,Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome +GARD:0000241,Orphanet,ORPHA:1003,Disorder,Malformation syndrome,Scalp defects-postaxial polydactyly syndrome, +GARD:0000243,Orphanet,ORPHA:3369,Disorder,Malformation syndrome,Trigonocephaly-short stature-developmental delay syndrome,Say-Meyer syndrome +GARD:0000246,Orphanet,ORPHA:63862,Disorder,Malformation syndrome,Schisis association, +GARD:0000247,Orphanet,ORPHA:3134,Disorder,Malformation syndrome,SCARF syndrome, +GARD:0000248,Orphanet,ORPHA:1383,Disorder,Malformation syndrome,Cataract-deafness-hypogonadism syndrome,Cataract-hearing loss-hypogonadism syndrome|Schaap-Taylor-Baraitser syndrome +GARD:0000249,Orphanet+OMIM,OMIM:122860,Subtype of disorder,Malformation syndrome subtype,"Craniodiaphyseal dysplasia, autosomal dominant", +GARD:0000250,Orphanet,ORPHA:800,Disorder,Disease,Schwartz-Jampel syndrome,"Aberfeld syndrome|Burton skeletal dysplasia|Burton syndrome|Catel-Hempel syndrome|Dysostosis enchondralis metaepiphysaria, Catel-Hempel type|Myotonic chondrodystrophy|Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|Osteochondromuscular dystrophy|SJS|SJS1|Schwartz-Jampel syndrome type 1|Schwartz-Jampel-Aberfeld syndrome" +GARD:0000257,Orphanet,ORPHA:3041,Disorder,Malformation syndrome,Intellectual disability-balding-patella luxation-acromicria syndrome,Scholte-Begeer-van Essen syndrome +GARD:0000258,Orphanet,ORPHA:2252,Disorder,Malformation syndrome,Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome,Schmitt-Gillenwater-Kelly syndrome +GARD:0000259,Orphanet,ORPHA:3145,Disorder,Disease,Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome, +GARD:0000262,Orphanet,ORPHA:644,Disorder,Disease,NARP syndrome,Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|Neuropathy-ataxia-retinitis pigmentosa syndrome +GARD:0000264,Orphanet,ORPHA:1824,Disorder,Disease,Lowry-Wood syndrome,Epiphyseal dysplasia-microcephaly-nystagmus syndrome +GARD:0000265,Orphanet,ORPHA:3351,Disorder,Malformation syndrome,Trichodental syndrome,Kersey syndrome +GARD:0000267,Orphanet,ORPHA:2662,Disorder,Malformation syndrome,Keipert syndrome,Nasodigitoacoustic syndrome +GARD:0000269,Orphanet,ORPHA:2307,Disorder,Malformation syndrome,IVIC syndrome,"Oculo-oto-radial syndrome|Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" +GARD:0000270,Orphanet,ORPHA:3051,Disorder,Malformation syndrome,Nicolaides-Baraitser syndrome,Intellectual disability-sparse hair-brachydactyly syndrome +GARD:0000272,Orphanet,ORPHA:3412,Disorder,Malformation syndrome,VACTERL with hydrocephalus,Sujansky-Leonard syndrome +GARD:0000273,Orphanet,ORPHA:2834,Subtype of disorder,Clinical subtype,Wrinkly skin syndrome,WSS|Wrinkled skin syndrome +GARD:0000274,Orphanet,ORPHA:2571,Disorder,Disease,X-linked immunoneurologic disorder,Woods-Black-Norbury syndrome +GARD:0000276,Orphanet+OMIM,OMIM:614841,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 12 with or without anosmia,"Eunuchoidism, familial hypogonadotropic|gonadotropin deficiency, familial idiopathic" +GARD:0000277,Orphanet,ORPHA:2892,Disorder,Malformation syndrome,Pilodental dysplasia-refractive errors syndrome,Euhidrotic ectodermal dysplasia|Kopysc-Barczyk-Krol syndrome +GARD:0000280,Orphanet,ORPHA:1809,Disorder,Malformation syndrome,"Hidrotic ectodermal dysplasia, Halal type",Halal-Setton-Wang syndrome|Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome +GARD:0000282,Orphanet,ORPHA:1832,Disorder,Malformation syndrome,Lethal osteosclerotic bone dysplasia,Raine syndrome +GARD:0000284,Orphanet,ORPHA:86915,Disorder,Malformation syndrome,Lymphedema-atrial septal defects-facial changes syndrome,Irons-Bhan syndrome|Irons-Bianchi syndrome +GARD:0000287,Orphanet,ORPHA:2211,Disorder,Malformation syndrome,Hypertelorism-hypospadias-polysyndactyly syndrome,Acrofrontofacionasal dysostosis type 2|Acrofrontofacionasal syndrome type 2|Naguib-Richieri-Costa syndrome +GARD:0000288,Orphanet,ORPHA:2108,Disorder,Malformation syndrome,Hallermann-Streiff syndrome,François dyscephalic syndrome|Oculomandibulofacial syndrome +GARD:0000290,Orphanet,ORPHA:2109,Disorder,Malformation syndrome,Hallermann-Streiff-like syndrome,"Dennis-Fairhurst-Moore syndrome|Hallermann-Streiff-François syndrome, severe form|Severe Hallermann-Streiff-François syndrome" +GARD:0000292,Orphanet,ORPHA:2269,Disorder,Disease,Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,Jagell-Holmgren-Hofer syndrome +GARD:0000296,Orphanet,ORPHA:2832,Disorder,Malformation syndrome,Short tarsus-absence of lower eyelashes syndrome,Lopes-Gorlin syndrome +GARD:0000298,Orphanet,ORPHA:2410,Disorder,Malformation syndrome,Hypergonadotropic hypogonadism-cataract syndrome,Lubinsky syndrome +GARD:0000299,Orphanet,ORPHA:231556,Disorder,Disease,Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,Late-onset localized JEB-intellectual disability syndrome +GARD:0000302,Orphanet,ORPHA:99749,Disorder,Disease,Kostmann syndrome,Infantile agranulocytosis|Severe congenital neutropenia type 3 +GARD:0000304,Orphanet,ORPHA:90340,Disorder,Disease,Blau syndrome, +GARD:0000305,Orphanet,ORPHA:3236,Disorder,Malformation syndrome,Conductive deafness-ptosis-skeletal anomalies syndrome,Conductive hearing loss-ptosis-skeletal anomalies syndrome|Jackson-Barr syndrome +GARD:0000306,Orphanet,ORPHA:2848,Disorder,Disease,Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,Arthropathy-camptodactyly syndrome|CACP syndrome|Jacobs syndrome|Pericarditis-arthropathy-camptodactyly syndrome +GARD:0000307,Orphanet,ORPHA:2308,Disorder,Malformation syndrome,Jacobsen syndrome,11q terminal deletion syndrome|Del(11)(q23.3)|Del(11)(qter)|Distal deletion 11q|Distal monosomy 11q|Monosomy 11qter|Telomeric deletion 11q +GARD:0000310,Orphanet,ORPHA:3474,Disorder,Malformation syndrome,CHIME syndrome,"Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|Congenital disorder of glycosylation due to PIGL deficiency|Neuroectodermal dysplasia, CHIME type|Neuroectodermal syndrome, Zunich type|PIGL-CDG|Zunich-Kaye syndrome" +GARD:0000312,Orphanet,ORPHA:97360,Disorder,Malformation syndrome,Robinow syndrome,Acral dysostosis with facial and genital abnormalities|Fetal face syndrome|Mesomelic dwarfism-small genitalia syndrome|Robinow dwarfism|Robinow-Silverman-Smith syndrome +GARD:0000314,Orphanet,ORPHA:3124,Disorder,Disease,Saccharopinuria,Hyperlysinemia type II|Saccharopine dehydrogenase deficiency +GARD:0000319,Orphanet,ORPHA:494421,Subtype of disorder,Clinical subtype,Sacrococcygeal teratoma, +GARD:0000320,Orphanet,ORPHA:2256,Disorder,Malformation syndrome,Fibulo-ulnar hypoplasia-renal anomalies syndrome,Saito-Kuba-Tsuruta syndrome +GARD:0000321,Orphanet,ORPHA:2613,Disorder,Disease,Nail-patella-like renal disease,Salcedo syndrome +GARD:0000322,Orphanet,ORPHA:3156,Disorder,Disease,Senior-Loken syndrome,Nephronophthisis with retinal dystrophy|Renal dysplasia-retinal aplasia syndrome|SLSN +GARD:0000324,Orphanet,ORPHA:2230,Disorder,Disease,Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome,Salti-Salem syndrome +GARD:0000325,Orphanet,ORPHA:95431,Disorder,Disease,Twin to twin transfusion syndrome,Feto-fetal transfusion syndrome +GARD:0000329,Orphanet,ORPHA:901,Disorder,Disease,Wells syndrome,Eosinophilic cellulitis +GARD:0000330,Orphanet,ORPHA:3455,Disorder,Malformation syndrome,Wiedemann-Rautenstrauch syndrome,Neonatal progeroid syndrome +GARD:0000331,Orphanet,ORPHA:3472,Disorder,Malformation syndrome,Yunis-Varon syndrome,Cleidocranial dysplasia-micrognathia-absent thumbs syndrome +GARD:0000332,Orphanet,ORPHA:1555,Disorder,Malformation syndrome,Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,Beare-Stevenson cutis gyrata syndrome +GARD:0000333,Orphanet,ORPHA:33001,Disorder,Malformation syndrome,Lymphedema-distichiasis syndrome, +GARD:0000334,Orphanet,ORPHA:41,Disorder,Disease,Dyschromatosis symmetrica hereditaria,Acropigmentation of Dohi +GARD:0000336,Orphanet,ORPHA:101003,Disorder,Disease,Autosomal recessive spastic paraplegia type 23,Lison syndrome|SPG23|Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome +GARD:0000341,Orphanet,ORPHA:3471,Disorder,Disease,Young syndrome,Azoospermia-sinopulmonary infections syndrome +GARD:0000343,Orphanet,ORPHA:166063,Disorder,Malformation syndrome,Pontocerebellar hypoplasia type 4,Fatal infantile encephalopathy with olivopontocerebellar hypoplasia|Olivopontocerebellar hypoplasia|PCH4 +GARD:0000344,Orphanet,ORPHA:2166,Disorder,Malformation syndrome,Holoprosencephaly-postaxial polydactyly syndrome,Pseudo-trisomy 13 syndrome +GARD:0000345,Orphanet,ORPHA:3055,Disorder,Malformation syndrome,X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome,Young-Hughes syndrome +GARD:0000346,Orphanet,ORPHA:3322,Disorder,Disease,Hoyeraal-Hreidarsson syndrome,Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome +GARD:0000347,Orphanet,ORPHA:2255,Disorder,Disease,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,Yorifuji-Okuno syndrome +GARD:0000348,Orphanet,ORPHA:876,Disorder,Disease,Yolk sac tumor,Endodermal sinus tumor +GARD:0000350,Orphanet,ORPHA:1858,Disorder,Malformation syndrome,Skeletal dysplasia-epilepsy-short stature syndrome,Gurrieri-Sammito-Bellussi syndrome +GARD:0000351,Orphanet,ORPHA:1562,Disorder,Malformation syndrome,Dacryocystitis-osteopoikilosis syndrome,Gunal-Seber-Basaran syndrome +GARD:0000354,Orphanet,ORPHA:2324,Disorder,Malformation syndrome,Osteopenia-intellectual disability-sparse hair syndrome,Kaler-Garrity-Stern syndrome +GARD:0000358,Orphanet,ORPHA:2804,Disorder,Malformation syndrome,W syndrome,Pallister-W syndrome +GARD:0000359,Orphanet,ORPHA:1515,Disorder,Malformation syndrome,Cranioectodermal dysplasia,CED|Sensenbrenner syndrome +GARD:0000360,Orphanet,ORPHA:921,Disorder,Malformation syndrome,Abruzzo-Erickson syndrome,CHARGE-like syndrome|Cleft palate-coloboma-deafness syndrome|Cleft palate-coloboma-hearing loss syndrome +GARD:0000361,Orphanet,ORPHA:945,Disorder,Malformation syndrome,Acalvaria,Primary acalvaria +GARD:0000363,Orphanet,ORPHA:926,Disorder,Disease,Acatalasemia,Catalase deficiency +GARD:0000364,Orphanet,ORPHA:1134,Disorder,Malformation syndrome,Isolated arrhinia,Isolated nose agenesis +GARD:0000365,Orphanet,ORPHA:91,Disorder,Disease,Aromatase deficiency,Congenital estrogen deficiency +GARD:0000368,Orphanet,ORPHA:2407,Disorder,Disease,Laryngo-onycho-cutaneous syndrome,LOC syndrome|LOGIC syndrome|Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome|Shabbir syndrome +GARD:0000369,Orphanet,ORPHA:1435,Disorder,Malformation syndrome,Xq21 microdeletion syndrome,Ayazi syndrome|Del(X)(q21)|Monosomy Xq21 +GARD:0000370,Orphanet,ORPHA:1414,Disorder,Disease,Cholestasis-lymphedema syndrome,Aagenaes syndrome +GARD:0000371,Orphanet,ORPHA:3010,Disorder,Disease,Qazi-Markouizos syndrome,Dysharmonic skeletal maturation-muscular fiber disproportion syndrome +GARD:0000372,Orphanet,ORPHA:638,Disorder,Malformation syndrome,Neurofibromatosis-Noonan syndrome,NFNS|Neurofibromatosis type 1-Noonan syndrome +GARD:0000373,Orphanet,ORPHA:346,Disorder,Disease,Quinquaud folliculitis decalvans, +GARD:0000374,Orphanet,ORPHA:2835,Disorder,Malformation syndrome,Pectus excavatum-macrocephaly-dysplastic nails syndrome,Zori-Stalker-Williams syndrome +GARD:0000375,Orphanet,ORPHA:3253,Disorder,Malformation syndrome,Cleft lip/palate-ectodermal dysplasia syndrome,CLPED1|Cleft lip/palate-syndactyly-pili torti syndrome|Syndactyly-ectodermal dysplasia-cleft/lip palate|Zlotogora-Ogur syndrome +GARD:0000376,Orphanet,ORPHA:931,Disorder,Morphological anomaly,Acheiropodia,Acheiropody +GARD:0000377,Orphanet,ORPHA:973,Disorder,Morphological anomaly,"Congenital absence/hypoplasia of fingers excluding thumb, unilateral","Adactyly of hand, unilateral|Digits 2-5 hypodactyly, unilateral|Digits 2-5 oligodactyly, unilateral" +GARD:0000378,Orphanet,ORPHA:2316,Disorder,Malformation syndrome,Johnson neuroectodermal syndrome,Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome|Alopecia-anosmia-deafness-hypogonadism syndrome|Johnson-McMillin syndrome +GARD:0000379,Orphanet,ORPHA:3033,Disorder,Malformation syndrome,Renal tubular dysgenesis,Primitive renal tubule syndrome|Renotubular dysgenesis +GARD:0000380,Orphanet,ORPHA:1571,Disorder,Malformation syndrome,Knobloch syndrome,Knobloch-Layer syndrome|Retinal detachment-occipital encephalocele syndrome +GARD:0000381,Orphanet,ORPHA:1129,Disorder,Malformation syndrome,Arachnodactyly-abnormal ossification-intellectual disability syndrome,Kosztolanyi syndrome +GARD:0000383,Orphanet,ORPHA:53,Disorder,Malformation syndrome,Albers-Schönberg osteopetrosis,Osteopetrosis autosomal dominant type 2 +GARD:0000384,Orphanet,ORPHA:978,Disorder,Malformation syndrome,ADULT syndrome,Acro-dermato-ungual-lacrimal-tooth syndrome|Pigment anomaly-ectrodactyly-hypodontia syndrome +GARD:0000385,Orphanet,ORPHA:3473,Disorder,Malformation syndrome,Zimmermann-Laband syndrome,Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|Laband syndrome +GARD:0000386,Orphanet,ORPHA:3301,Disorder,Malformation syndrome,Tetraamelia-multiple malformations syndrome,Zimmer phocomelia +GARD:0000387,Orphanet,ORPHA:911,Disorder,Disease,Combined immunodeficiency due to ZAP70 deficiency,Zeta-associated-protein 70 deficiency +GARD:0000390,Orphanet,ORPHA:2790,Disorder,Malformation syndrome,"Endosteal hyperostosis, Worth type","Autosomal dominant osteosclerosis, Worth type|Worth syndrome" +GARD:0000391,Orphanet,ORPHA:2777,Disorder,Malformation syndrome,Osteomesopyknosis,Axial osteosclerosis +GARD:0000393,Orphanet,ORPHA:879,Disorder,Disease,Tungiasis, +GARD:0000394,Orphanet,ORPHA:3268,Disorder,Malformation syndrome,Radioulnar synostosis-microcephaly-scoliosis syndrome,Giuffré-Tsukahara syndrome|Tsukahara syndrome +GARD:0000395,Orphanet,ORPHA:1574,Disorder,Malformation syndrome,Retinal degeneration-nanophthalmos-glaucoma syndrome,Mackay-Shek-Carr syndrome +GARD:0000396,Orphanet,ORPHA:3392,Disorder,Disease,Tularemia, +GARD:0000399,Orphanet,ORPHA:393,Disorder,Malformation syndrome,"46,XX testicular disorder of sex development","46,XX testicular DSD|De la Chapelle syndrome|XX, male syndrome" +GARD:0000400,Orphanet,ORPHA:2067,Disorder,Malformation syndrome,GAPO syndrome,Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome +GARD:0000402,Orphanet+OMIM,OMIM:165199,Subtype of disorder,Disease subtype,"Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant", +GARD:0000404,Orphanet,ORPHA:2786,Disorder,Malformation syndrome,Osteoporosis-oculocutaneous hypopigmentation syndrome,Hernández-Fragoso syndrome|OOCHS +GARD:0000405,Orphanet,ORPHA:3191,Disorder,Malformation syndrome,Subaortic stenosis-short stature syndrome,Onat syndrome +GARD:0000406,Orphanet,ORPHA:2253,Disorder,Disease,Foveal hypoplasia-presenile cataract syndrome,O'Donnell-Pappas syndrome +GARD:0000407,Orphanet,ORPHA:999,Disorder,Malformation syndrome,Ermine phenotype,O'Doherty syndrome|Pigmentary disorder with deafness|Pigmentary disorder with hearing loss +GARD:0000408,Orphanet,ORPHA:629,Subtype of disorder,Clinical subtype,Short stature due to growth hormone qualitative anomaly,Kowarski syndrome +GARD:0000409,Orphanet,ORPHA:2798,Disorder,Malformation syndrome,Pachygyria-intellectual disability-epilepsy syndrome,Kuzniecky syndrome +GARD:0000411,Orphanet,ORPHA:2323,Disorder,Malformation syndrome,Sanjad-Sakati syndrome,HRD syndrome|Hypoparathyroidism-intellectual disability-dysmorphism syndrome|Hypoparathyroidism-short stature-intellectual disability-seizures syndrome|Richardson-Kirk syndrome|SSS +GARD:0000412,Orphanet,ORPHA:1221,Disorder,Disease,Cheilitis glandularis, +GARD:0000413,Orphanet,ORPHA:2078,Disorder,Malformation syndrome,Geroderma osteodysplastica, +GARD:0000414,Orphanet,ORPHA:1226,Disorder,Malformation syndrome,Bamforth-Lazarus syndrome,Athyroidal hypothyroidism-spiky hair-cleft palate syndrome|Bamforth syndrome|Hypothyroidism-cleft palate syndrome +GARD:0000415,Orphanet,ORPHA:2985,Disorder,Malformation syndrome,Pseudoprogeria syndrome,Absent eyebrows and eyelashes-intellectual disability syndrome|Hal-Berg-Rudolph syndrome +GARD:0000418,Orphanet,ORPHA:2843,Disorder,Disease,Pentosuria,Essential pentosuria|Xylitol dehydrogenase deficiency +GARD:0000420,Orphanet+OMIM,OMIM:276300,Subtype of disorder,Disease subtype,Mismatch repair cancer syndrome 1,Constitutional mismatch repair deficiency syndrome|childhood cancer syndrome|brain tumor-polyposis syndrome 1|mmr deficiency|turcot syndrome|btp1 syndrome|mismatch repair deficiency +GARD:0000424,Orphanet,ORPHA:3469,Disorder,Malformation syndrome,XK aprosencephaly syndrome,Garcia-Lurie syndrome|XK syndrome|XK-aprosencephaly +GARD:0000425,Orphanet,ORPHA:1063,Disorder,Disease,Tufted angioma,Nakagawa angioblastoma +GARD:0000427,Orphanet,ORPHA:2997,Disorder,Malformation syndrome,Ptosis-vocal cord paralysis syndrome,Tucker syndrome +GARD:0000428,Orphanet,ORPHA:1521,Disorder,Malformation syndrome,Craniofrontonasal dysplasia-Poland anomaly syndrome,Webster-Deming syndrome +GARD:0000429,Orphanet,ORPHA:295000,Disorder,Malformation syndrome,Constriction rings syndrome,Amniotic band sequence|Amniotic band syndrome|Congenital ring constrictions|Constriction band syndrome|Streeter dysplasia +GARD:0000431,Orphanet,ORPHA:83463,Disorder,Morphological anomaly,Microtia, +GARD:0000433,Orphanet,ORPHA:320,Disorder,Disease,Apparent mineralocorticoid excess,11-beta-hydroxysteroid dehydrogenase deficiency type 2|Ulick syndrome +GARD:0000434,Orphanet,ORPHA:2182,Subtype of disorder,Clinical subtype,Hydrocephalus with stenosis of the aqueduct of Sylvius,Bickers-Adams syndrome|HSAS|X-linked HSAS|X-linked acqueductal stenosis|X-linked hydrocephalus|X-linked hydrocephalus with stenosis of aqueduct of Sylvius +GARD:0000435,Orphanet,ORPHA:1995,Disorder,Malformation syndrome,Cleft lip-retinopathy syndrome,Ausems-Wittebol Post-Hennekam syndrome|Cleft lip-cone rod dystrophy syndrome|Cleft lip-progressive retinopathy syndrome +GARD:0000436,Orphanet,ORPHA:829,Disorder,Disease,Adult-onset Still disease,AOSD|Wissler-Fanconi syndrome +GARD:0000438,Orphanet,ORPHA:62,Disorder,Disease,Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3,Alpha-sarcoglycan-related LGMD R3|Alpha-sarcoglycanopathy|Autosomal recessive limb-girdle muscular dystrophy type 2D|LGMD due to alpha-sarcoglycan deficiency|LGMD type 2D|LGMD2D|Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency|Limb-girdle muscular dystrophy type 2D +GARD:0000448,Orphanet,ORPHA:1493,Disorder,Malformation syndrome,Vici syndrome,Corpus callosum agenesis-cataract-immunodeficiency syndrome|Dionisi-Vici-Sabetta-Gambarara syndrome +GARD:0000453,Orphanet,ORPHA:90301,Disorder,Disease,Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome, +GARD:0000454,Orphanet,ORPHA:674,Disorder,Morphological anomaly,Accessory pancreas, +GARD:0000455,Orphanet+OMIM,OMIM:200400,Subtype of disorder,Disease subtype,"Achalasia, familial esophageal", +GARD:0000456,Orphanet,ORPHA:929,Disorder,Malformation syndrome,Achalasia-microcephaly syndrome, +GARD:0000457,Orphanet,ORPHA:869,Disorder,Disease,Triple A syndrome,2A syndrome|3A syndrome|4A syndrome|AAA syndrome|Achalasia-addisonianism-alacrima syndrome|Adrenal insufficiency-achalasia-alacrima syndrome|Allgrove syndrome|Double A syndrome|Quaternary A syndrome +GARD:0000458,Orphanet,ORPHA:168555,Disorder,Disease,"Spondylometaphyseal dysplasia, A4 type", +GARD:0000459,Orphanet,ORPHA:93299,Subtype of disorder,Clinical subtype,Achondrogenesis type 1A,"Achondrogenesis, Houston-Harris type" +GARD:0000460,Orphanet,ORPHA:93298,Subtype of disorder,Clinical subtype,Achondrogenesis type 1B,"Achondrogenesis, Parenti-Fraccaro type" +GARD:0000465,Orphanet,ORPHA:33,Disorder,Disease,Isovaleric acidemia,Isovaleric acid CoA dehydrogenase deficiency +GARD:0000467,Orphanet,ORPHA:35,Disorder,Disease,Propionic acidemia,Ketotic hyperglycinemia|Propionic aciduria|Propionyl-CoA carboxylase deficiency +GARD:0000469,Orphanet,ORPHA:2561,Disorder,Malformation syndrome,Pyramidal molars-abnormal upper lip syndrome,Ackerman fused molar roots syndrome +GARD:0000475,Orphanet,ORPHA:26348,Disorder,Disease,Acquired prothrombin deficiency,Acquired hypoprothrombinemia +GARD:0000476,Orphanet,ORPHA:454,Disorder,Disease,Acquired ichthyosis, +GARD:0000480,Orphanet,ORPHA:958,Disorder,Malformation syndrome,Acro-renal-mandibular syndrome,Split hand/split foot-mandibular hypoplasia syndrome +GARD:0000484,Orphanet,ORPHA:1784,Disorder,Malformation syndrome,Acrofrontofacionasal dysostosis,Richieri-Costa-Colletto syndrome +GARD:0000491,Orphanet,ORPHA:2956,Disorder,Malformation syndrome,Acrodysplasia scoliosis,Brachydactyly-scoliosis-carpal fusion syndrome|Prata-Liberal-Goncalves syndrome +GARD:0000494,Orphanet,ORPHA:1786,Disorder,Malformation syndrome,"Acrofacial dysostosis, Catania type",Opitz-Caltabiano syndrome +GARD:0000496,Orphanet,ORPHA:1788,Disorder,Malformation syndrome,"Acrofacial dysostosis, Rodríguez type", +GARD:0000497,Orphanet,ORPHA:952,Disorder,Malformation syndrome,"Acrofacial dysostosis, Weyers type",Curry-Hall syndrome|Weyers acrodental dysostosis|Weyers acrofacial dysostosis +GARD:0000498,Orphanet,ORPHA:245,Disorder,Malformation syndrome,Nager syndrome,Mandibulofacial dysostosis with preaxial limb anomalies|NAFD|Nager acrofacial dysostosis|Preaxial acrodysostosis +GARD:0000499,Orphanet,ORPHA:1787,Disorder,Malformation syndrome,"Acrofacial dysostosis, Palagonia type", +GARD:0000504,Orphanet,ORPHA:93316,Disorder,Disease,"Spondylometaphyseal dysplasia, Schmidt type","Spondylometaphyseal dysplasia with severe genu valgum|Spondylometaphyseal dysplasia, Algerian type" +GARD:0000506,Orphanet,ORPHA:968,Disorder,Malformation syndrome,"Acromesomelic dysplasia, Hunter-Thompson type",Acromesomelic dwarfism +GARD:0000507,Orphanet,ORPHA:40,Disorder,Malformation syndrome,"Acromesomelic dysplasia, Maroteaux type", +GARD:0000508,Orphanet,ORPHA:955,Disorder,Malformation syndrome,Hajdu-Cheney syndrome,Acroosteolysis dominant type|Acroosteolysis with osteoporosis and changes in skull and mandible|Arthrodentoosteodysplasia|Cheney syndrome +GARD:0000512,Orphanet,ORPHA:957,Disorder,Malformation syndrome,Acropectorovertebral dysplasia,F syndrome +GARD:0000514,Orphanet,ORPHA:971,Disorder,Malformation syndrome,Acrorenal syndrome, +GARD:0000519,Orphanet,ORPHA:724,Disorder,Disease,Idiopathic acute eosinophilic pneumonia,IAEP +GARD:0000521,Orphanet,ORPHA:3243,Disorder,Disease,Sweet syndrome,Acute febrile neutrophilic dermatosis +GARD:0000522,Orphanet,ORPHA:513,Group of disorders,Clinical group,Acute lymphoblastic leukemia,ALL|Acute lymphoblastic leukemia/lymphoma|Acute lymphocytic leukemia|Precursor lymphoid neoplasm +GARD:0000524,Orphanet,ORPHA:518,Disorder,Disease,Acute megakaryoblastic leukemia,AMKL|AML M7|Acute megakaryocytic leukemia|Acute myeloid leukemia M7 +GARD:0000525,Orphanet,ORPHA:514,Disorder,Disease,Acute monoblastic/monocytic leukemia,AML M5|Acute monoblastic or monocytic leukemia +GARD:0000526,Orphanet,ORPHA:98833,Disorder,Disease,Acute myeloblastic leukemia without maturation,AML M1|Acute myeloblastic leukemia M1 +GARD:0000527,Orphanet,ORPHA:98834,Disorder,Disease,Acute myeloblastic leukemia with maturation,AML M2|Acute myeloblastic leukemia M2 +GARD:0000529,Orphanet,ORPHA:517,Disorder,Disease,Acute myelomonocytic leukemia,AML M4|AMMoL +GARD:0000536,Orphanet,ORPHA:98829,Disorder,Disease,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) +GARD:0000538,Orphanet,ORPHA:520,Disorder,Disease,Acute promyelocytic leukemia,AML M3|AML with t(15;17)(q22;q12);(PML/RARalpha) and variants|APML|Acute myeloblastic leukemia 3|Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants +GARD:0000540,Orphanet,ORPHA:42,Disorder,Disease,Medium chain acyl-CoA dehydrogenase deficiency,ACADM deficiency|Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency|MCAD deficiency|MCADD|Medium chain acyl-coenzyme A dehydrogenase deficiency +GARD:0000546,Orphanet,ORPHA:976,Disorder,Disease,Adenine phosphoribosyltransferase deficiency,"2,8-dihydroxyadenine urolithiasis|APRT deficiency" +GARD:0000547,Orphanet,ORPHA:45,Disorder,Disease,Adenosine monophosphate deaminase deficiency,AMP deaminase deficiency|Myoadenylate deaminase deficiency +GARD:0000550,Orphanet,ORPHA:46,Disorder,Disease,Adenylosuccinate lyase deficiency,ADSL deficiency|Adenylosuccinase deficiency +GARD:0000555,Orphanet,ORPHA:95702,Disorder,Disease,X-linked adrenal hypoplasia congenita,X-linked AHC|X-linked congenital adrenal hypoplasia +GARD:0000558,Orphanet,ORPHA:1501,Disorder,Disease,Adrenocortical carcinoma, +GARD:0000559,Orphanet,ORPHA:44,Disorder,Disease,Neonatal adrenoleukodystrophy,Intermediate PBD-ZSD|Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder|NALD +GARD:0000562,Orphanet,ORPHA:977,Disorder,Disease,Adrenomyodystrophy, +GARD:0000564,Orphanet,ORPHA:83420,Subtype of disorder,Clinical subtype,Proximal spinal muscular atrophy type 4,"SMA type 4|SMA type IV|SMA-IV|SMA4|Spinal muscular atrophy, adult form" +GARD:0000575,Orphanet,ORPHA:51,Disorder,Disease,Aicardi-Goutières syndrome,Encephalopathy with basal ganglia calcification|Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid +GARD:0000583,Orphanet,ORPHA:2865,Disorder,Malformation syndrome,Short stature-webbed neck-heart disease syndrome,Al Gazali-Aziz-Salem syndrome +GARD:0000584,Orphanet,ORPHA:2153,Disorder,Malformation syndrome,Hirschsprung disease-nail hypoplasia-dysmorphism syndrome,Al Gazali-Donnai-Muller syndrome +GARD:0000587,Orphanet,ORPHA:2773,Disorder,Malformation syndrome,Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome,Al Gazali-Nair syndrome +GARD:0000588,Orphanet,ORPHA:2007,Disorder,Malformation syndrome,Alar cartilages hypoplasia-coloboma-telecanthus syndrome, +GARD:0000589,Orphanet,ORPHA:998,Disorder,Malformation syndrome,Albinism-deafness syndrome,Albinism-hearing loss syndrome +GARD:0000592,Orphanet,ORPHA:1000,Disorder,Disease,Ocular albinism with late-onset sensorineural deafness,Ocular albinism with late-onset sensorineural hearing loss +GARD:0000594,Orphanet,ORPHA:79434,Subtype of disorder,Clinical subtype,Oculocutaneous albinism type 1B,"OCA1B|Oculocutaneous albinism, Amish type|Platinum oculocutaneous albinism|Yellow oculocutaneous albinism" +GARD:0000599,Orphanet,ORPHA:1915,Disorder,Malformation syndrome,Fetal alcohol syndrome,ARBD|ARND|Alcohol-related birth defects|Alcohol-related neurodevelopmental disorder|FAS|FASD|Fetal alcohol spectrum disorders +GARD:0000600,Orphanet,ORPHA:57,Disorder,Disease,Glycogen storage disease due to aldolase A deficiency,GSD due to aldolase A deficiency|GSD type 12|GSD type XII|Glycogen storage disease type 12|Glycogen storage disease type XII|Glycogenosis due to aldolase A deficiency|Glycogenosis type 12|Glycogenosis type XII +GARD:0000602,Orphanet,ORPHA:1164,Disorder,Disease,Allergic bronchopulmonary aspergillosis,ABPA|Allergic aspergillosis|Hinson-Pepys disease +GARD:0000604,Orphanet,ORPHA:1010,Disorder,Disease,Autosomal dominant palmoplantar keratoderma and congenital alopecia,"Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia|PPK-CA, Stevanovic type|Palmoplantar keratoderma and congenital alopecia, Stevanovic type" +GARD:0000605,Orphanet,ORPHA:1005,Disorder,Malformation syndrome,Alopecia-contractures-dwarfism-intellectual disability syndrome,ACD-intellectual disability syndrome +GARD:0000606,Orphanet,ORPHA:2574,Disorder,Malformation syndrome,Moynahan syndrome,"Alopecia-epilepsy-intellectual disability syndrome, Moynahan type" +GARD:0000607,Orphanet,ORPHA:1008,Disorder,Disease,Alopecia-epilepsy-pyorrhea-intellectual disability syndrome,Shokeir syndrome +GARD:0000612,Orphanet,ORPHA:2850,Disorder,Disease,Alopecia-intellectual disability syndrome,Perniola-Krajewska-Carnevale syndrome +GARD:0000613,Orphanet,ORPHA:700,Disorder,Disease,Alopecia totalis, +GARD:0000614,Orphanet,ORPHA:701,Disorder,Disease,Alopecia universalis, +GARD:0000617,Orphanet,ORPHA:31,Disorder,Disease,Oxoglutaric aciduria,Alpha-ketoglutarate dehydrogenase deficiency +GARD:0000621,Orphanet,ORPHA:846,Disorder,Disease,Alpha-thalassemia, +GARD:0000624,Orphanet,ORPHA:88918,Subtype of disorder,Clinical subtype,Autosomal dominant Alport syndrome, +GARD:0000625,Orphanet,ORPHA:88919,Subtype of disorder,Clinical subtype,Autosomal recessive Alport syndrome, +GARD:0000634,Orphanet,ORPHA:65,Disorder,Disease,Leber congenital amaurosis,Amaurosis congenita of Leber +GARD:0000635,Orphanet+OMIM,OMIM:204000,Subtype of disorder,Disease subtype,Leber congenital amaurosis 1,"lca|retinal blindness, congenital|Amaurosis congenita of leber i" +GARD:0000636,Orphanet+OMIM,OMIM:204100,Subtype of disorder,Disease subtype,Leber congenital amaurosis 2,Amaurosis congenita of leber ii +GARD:0000637,Orphanet,ORPHA:1021,Disorder,Disease,Amaurosis-hypertrichosis syndrome, +GARD:0000640,Orphanet,ORPHA:3319,Disorder,Disease,Congenital amegakaryocytic thrombocytopenia,CAMT +GARD:0000645,Orphanet,ORPHA:100031,Subtype of disorder,Clinical subtype,Hypoplastic amelogenesis imperfecta,Amelogenesis imperfecta type 1 +GARD:0000646,Orphanet,ORPHA:1031,Disorder,Malformation syndrome,Enamel-renal syndrome,Amelogenesis imperfecta-nephrocalcinosis syndrome +GARD:0000647,Orphanet,ORPHA:1028,Disorder,Malformation syndrome,Amelo-onycho-hypohidrotic syndrome,Ameloonychohypohidrotic ectodermal dysplasia|Ameloonychohypohidrotic syndrome +GARD:0000654,Orphanet,ORPHA:1035,Disorder,Biological anomaly,Beta-mercaptolactate cysteine disulfiduria,3-mercaptopyruvate sulfurtransferase deficiency|Ampola syndrome|MCDU +GARD:0000664,Orphanet,ORPHA:142,Disorder,Disease,Anaplastic thyroid carcinoma, +GARD:0000668,Orphanet,ORPHA:2802,Disorder,Disease,X-linked sideroblastic anemia and spinocerebellar ataxia,Pagon-Bird-Detter syndrome|X-linked sideroblastic anemia with ataxia|XLSA-A +GARD:0000670,Orphanet,ORPHA:1054,Disorder,Morphological anomaly,Aneurysm of sinus of Valsalva, +GARD:0000671,Orphanet,ORPHA:63442,Disorder,Malformation syndrome,Angel-shaped phalango-epiphyseal dysplasia,ASPED +GARD:0000676,Orphanet,ORPHA:1062,Disorder,Disease,Hereditary neurocutaneous malformation, +GARD:0000683,Orphanet,ORPHA:74,Disorder,Disease,Angiostrongyliasis, +GARD:0000685,Orphanet,ORPHA:1069,Disorder,Malformation syndrome,Aniridia-absent patella syndrome, +GARD:0000689,Orphanet,ORPHA:1067,Disorder,Malformation syndrome,Aniridia-ptosis-intellectual disability-familial obesity syndrome, +GARD:0000690,Orphanet,ORPHA:1064,Disorder,Malformation syndrome,Aniridia-renal agenesis-psychomotor retardation syndrome,Sommer-Rathbun-Battles syndrome +GARD:0000693,Orphanet,ORPHA:1070,Disorder,Disease,Anisakiasis, +GARD:0000696,Orphanet,ORPHA:1072,Subtype of disorder,Clinical subtype,Ankyloblepharon filiforme adnatum-cleft palate syndrome, +GARD:0000697,Orphanet,ORPHA:1074,Subtype of disorder,Clinical subtype,Ankyloblepharon filiforme adnatum-imperforate anus syndrome,Aughton-Hufnagle syndrome +GARD:0000701,Orphanet,ORPHA:1077,Disorder,Malformation syndrome,Dental ankylosis,Ankylosis of teeth +GARD:0000705,Orphanet,ORPHA:675,Disorder,Morphological anomaly,Annular pancreas, +GARD:0000710,Orphanet,ORPHA:90390,Subtype of disorder,Clinical subtype,Anonychia-onychodystrophy syndrome, +GARD:0000713,Orphanet,ORPHA:2470,Disorder,Malformation syndrome,Matthew-Wood syndrome,Anophthalmia-pulmonary hypoplasia syndrome|PDAC syndrome|Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome|Spear syndrome +GARD:0000717,Orphanet,ORPHA:1101,Disorder,Malformation syndrome,Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome,Cassia Stocco dos Santos syndrome +GARD:0000719,Orphanet,ORPHA:1104,Disorder,Malformation syndrome,Anophthalmia plus syndrome,Fryns microphthalmia syndrome|Microphthalmia with facial clefting +GARD:0000722,Orphanet,ORPHA:1106,Disorder,Malformation syndrome,Microphthalmia with limb anomalies,Anophthalmia-syndactyly syndrome|OAS|Ophthalmoacromelic syndrome|Waardenburg anophthalmia syndrome +GARD:0000730,Orphanet,ORPHA:2194,Disorder,Disease,Anti-HLA hyperimmunization, +GARD:0000731,Orphanet,ORPHA:79,Disorder,Disease,Congenital alpha2-antiplasmin deficiency, +GARD:0000735,Orphanet,ORPHA:81,Disorder,Disease,Antisynthetase syndrome,AS syndrome|Anti-Jo1 syndrome +GARD:0000738,Orphanet,ORPHA:2037,Disorder,Morphological anomaly,Congenital aortopulmonary window,Congenital aortopulmonary artery fistula|Congenital aortopulmonary septal defect +GARD:0000739,Orphanet,ORPHA:1110,Disorder,Malformation syndrome,Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome, +GARD:0000740,Orphanet,ORPHA:2299,Disorder,Morphological anomaly,Aortic arch interruption, +GARD:0000741,Orphanet,ORPHA:1132,Group of disorders,Category,Aortic arch defects, +GARD:0000743,Orphanet,ORPHA:3193,Disorder,Morphological anomaly,Supravalvular aortic stenosis,SVAS +GARD:0000748,Orphanet,ORPHA:1113,Disorder,Malformation syndrome,Aphalangy-syndactyly-microcephaly syndrome, +GARD:0000753,Orphanet,ORPHA:1116,Disorder,Disease,Aplasia cutis congenita-intestinal lymphangiectasia syndrome,Bronspiegel-Zelnick syndrome +GARD:0000756,Orphanet,ORPHA:1117,Disorder,Disease,Aplasia cutis-myopia syndrome,Gershoni-Baruch-Leibo syndrome +GARD:0000759,Orphanet,ORPHA:309020,Subtype of disorder,Etiological subtype,Familial apolipoprotein C-II deficiency,Familial APOC2 deficiency|Familial apoC-II deficiency +GARD:0000764,Orphanet,ORPHA:1130,Disorder,Malformation syndrome,Arachnodactyly-intellectual disability-dysmorphism syndrome,De Die-Smulders-Vles-Fryns syndrome +GARD:0000770,Orphanet,ORPHA:35708,Disorder,Disease,Aromatic L-amino acid decarboxylase deficiency,AADC deficiency +GARD:0000774,Orphanet,ORPHA:3342,Disorder,Malformation syndrome,Arterial tortuosity syndrome,ATS +GARD:0000777,Orphanet,ORPHA:1037,Group of disorders,Clinical group,Arthrogryposis multiplex congenita,AMC|Multiple congenital arthrogryposis +GARD:0000784,Orphanet,ORPHA:1144,Disorder,Malformation syndrome,Arthrogryposis-like hand anomaly-sensorineural deafness syndrome,Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome|Distal arthrogryposis type 6 +GARD:0000786,Orphanet,ORPHA:97120,Group of disorders,Clinical group,Distal arthrogryposis, +GARD:0000787,Orphanet,ORPHA:1146,Disorder,Malformation syndrome,Distal arthrogryposis type 1,DA1|Digitotalar dysmorphism +GARD:0000790,Orphanet,ORPHA:1143,Disorder,Disease,Neurogenic arthrogryposis multiplex congenita, +GARD:0000792,Orphanet,ORPHA:1150,Disorder,Malformation syndrome,Arthrogryposis multiplex congenita-whistling face syndrome,Illum syndrome +GARD:0000794,Orphanet,ORPHA:2697,Disorder,Malformation syndrome,Arthrogryposis-renal dysfunction-cholestasis syndrome,ARC syndrome +GARD:0000802,Orphanet,ORPHA:98722,Group of disorders,Clinical group,Atrioventricular septal defect,AVSD|Atrioventricular canal defect +GARD:0000804,Orphanet,ORPHA:52,Disorder,Malformation syndrome,Alagille syndrome,Alagille-Watson syndrome|Arteriohepatic dysplasia|Syndromic bile duct paucity +GARD:0000806,Orphanet,ORPHA:2819,Disorder,Malformation syndrome,Spastic paraplegia-facial-cutaneous lesions syndrome,Bahemuka-Brown syndrome +GARD:0000809,Orphanet,ORPHA:1223,Disorder,Disease,Balantidiasis,Balantidiosis|Ciliary dysentery +GARD:0000812,Orphanet,ORPHA:1227,Disorder,Malformation syndrome,Bangstad syndrome,Ataxia-diabetes-goiter-gonadal insufficiency syndrome +GARD:0000813,Orphanet,ORPHA:1228,Disorder,Malformation syndrome,Banki syndrome, +GARD:0000816,Orphanet,ORPHA:2753,Disorder,Malformation syndrome,Orofaciodigital syndrome type 4,Baraitser-Burn syndrome|Mohr-Majewski syndrome|OFD4|Oral-facial-digital syndrome type 4 +GARD:0000819,Orphanet,ORPHA:1231,Disorder,Malformation syndrome,Barber-Say syndrome,Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome +GARD:0000820,Orphanet+OMIM,OMIM:209900,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 1, +GARD:0000821,Orphanet+OMIM,OMIM:615981,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 2, +GARD:0000822,Orphanet+OMIM,OMIM:600151,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 3, +GARD:0000823,Orphanet+OMIM,OMIM:615982,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 4, +GARD:0000824,Orphanet,ORPHA:572,Disorder,Disease,Immunodeficiency by defective expression of MHC class II,Bare lymphocyte syndrome type 2|MHC class II deficiency +GARD:0000826,Orphanet,ORPHA:1826,Disorder,Disease,Frontometaphyseal dysplasia, +GARD:0000835,Orphanet,ORPHA:1875,Disorder,Disease,Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,Bassoe syndrome +GARD:0000836,Orphanet,ORPHA:1948,Disorder,Malformation syndrome,Epilepsy-microcephaly-skeletal dysplasia syndrome,Battaglia-Neri syndrome +GARD:0000838,Orphanet,ORPHA:113,Disorder,Disease,Bazex-Dupré-Christol syndrome,BDCS|Follicular atrophoderma and basal cell carcinomas +GARD:0000842,Orphanet,ORPHA:2206,Disorder,Malformation syndrome,Ankylosing vertebral hyperostosis with tylosis, +GARD:0000844,Orphanet+OMIM,OMIM:255700,Subtype of disorder,Disease subtype,"Myotonia congenita, autosomal recessive","Becker disease|myotonia, generalized" +GARD:0000846,Orphanet,ORPHA:1237,Disorder,Malformation syndrome,Beemer-Ertbruggen syndrome,Lethal hydrocephalus-cardiac malformation-dense bones syndrome +GARD:0000848,Orphanet,ORPHA:117,Disorder,Disease,Behçet disease, +GARD:0000853,Orphanet,ORPHA:100978,Disorder,Malformation syndrome,Cloverleaf skull-asphyxiating thoracic dysplasia syndrome,Benallegue-Lacete syndrome +GARD:0000856,Orphanet+OMIM,OMIM:601764,Subtype of disorder,Disease subtype,"Seizures, benign familial infantile, 1", +GARD:0000857,Orphanet,ORPHA:306,Disorder,Disease,Benign familial infantile epilepsy,BFIE|BFIS|Benign familial infantile convulsions|Benign familial infantile seizures +GARD:0000860,Orphanet,ORPHA:1548,Disorder,Malformation syndrome,Cryptorchidism-arachnodactyly-intellectual disability syndrome,Van Benthem-Driessen-Hanveld syndrome +GARD:0000867,Orphanet,ORPHA:133,Disorder,Disease,Chronic beryllium disease,Berylliosis|Chronic berylliosis|Chronic beryllium lung disease +GARD:0000869,Orphanet,ORPHA:118,Disorder,Disease,Beta-mannosidosis,Beta-mannosidase deficiency +GARD:0000871,Orphanet,ORPHA:848,Disorder,Disease,Beta-thalassemia, +GARD:0000872,Orphanet,ORPHA:134,Disorder,Disease,Beta-ketothiolase deficiency,3-ketothiolase deficiency|3-oxothiolase deficiency|Alpha methylacetoacetic aciduria|Alpha-methyl-acetoacetyl-CoA thiolase deficiency|Mitochondrial acetoacetyl-coenzyme A thiolase deficiency|T2 deficiency +GARD:0000873,Orphanet,ORPHA:610,Disorder,Disease,Bethlem myopathy,Benign autosomal dominant myopathy +GARD:0000882,Orphanet,ORPHA:141333,Disorder,Disease,Biemond syndrome type 2,Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome +GARD:0000884,Orphanet,ORPHA:2695,Disorder,Malformation syndrome,Bifid nose, +GARD:0000893,Orphanet,ORPHA:3304,Disorder,Malformation syndrome,Fallot complex-intellectual disability-growth delay syndrome,Bindewald-Ulmer-Müller syndrome +GARD:0000894,Orphanet,ORPHA:79241,Disorder,Disease,Biotinidase deficiency,Juvenile-onset multiple carboxylase deficiency|Late-onset multiple carboxylase deficiency +GARD:0000895,Orphanet,ORPHA:2617,Disorder,Malformation syndrome,"Microcephalic primordial dwarfism, Montreal type","Bird-headed dwarfism, Montreal type" +GARD:0000897,Orphanet,ORPHA:2213,Disorder,Malformation syndrome,Hypertelorism-microtia-facial clefting syndrome,Bixler-Christian-Gorlin syndrome|HMC syndrome +GARD:0000905,Orphanet,ORPHA:2057,Disorder,Malformation syndrome,Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,Frydman-Cohen-Karmon syndrome +GARD:0000912,Orphanet,ORPHA:1259,Disorder,Disease,Blepharoptosis-myopia-ectopia lentis syndrome, +GARD:0000914,Orphanet,ORPHA:50945,Disorder,Malformation syndrome,Blomstrand lethal chondrodysplasia,"BLC|BOCD|Blomstrand chondrodysplasia|Blomstrand osteochondrodysplasia|Chondrodysplasia, Blomstrand type" +GARD:0000915,Orphanet,ORPHA:125,Disorder,Disease,Bloom syndrome,BSyn +GARD:0000916,Orphanet,ORPHA:2768,Disorder,Malformation syndrome,Blount disease,Infantile tibia vara|Osteochondrosis deformans tibiae|Tibia vara Blount +GARD:0000917,Orphanet,ORPHA:16,Disorder,Disease,Blue cone monochromatism,"Atypical X-linked achromatopsia|Blue cone monochromacy|Color blindness, blue monocone monochromatic type|S cone monochromacy|S cone monochromatism|X-linked incomplete achromatopsia" +GARD:0000918,Orphanet,ORPHA:1292,Disorder,Malformation syndrome,Brachymorphism-onychodysplasia-dysphalangism syndrome,BOD syndrome|Senior syndrome +GARD:0000922,Orphanet,ORPHA:1842,Disorder,Malformation syndrome,"Bone dysplasia, lethal Holmgren type","Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type" +GARD:0000932,Orphanet,ORPHA:1262,Disorder,Malformation syndrome,Böök syndrome, +GARD:0000933,Orphanet,ORPHA:1263,Disorder,Disease,Boomerang dysplasia, +GARD:0000936,Orphanet,ORPHA:127,Disorder,Malformation syndrome,Borjeson-Forssman-Lehmann syndrome,BFLS|Intellectual disability-epilepsy-endocrine disorders syndrome +GARD:0000938,Orphanet,ORPHA:1264,Disorder,Malformation syndrome,Tricho-retino-dento-digital syndrome,Bork syndrome|Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome +GARD:0000942,Orphanet,ORPHA:128,Disorder,Disease,Diphyllobothriasis,Bothriocephalosis +GARD:0000943,Orphanet,ORPHA:1267,Disorder,Disease,Botulism, +GARD:0000944,Orphanet,ORPHA:1180,Disorder,Disease,Ataxia-hypogonadism-choroidal dystrophy syndrome,Boucher-Neuhäuser syndrome +GARD:0000953,Orphanet,ORPHA:2292,Disorder,Malformation syndrome,Congenital bowing of long bones, +GARD:0000955,Orphanet,ORPHA:1299,Disorder,Malformation syndrome,Branchioskeletogenital syndrome,BSG syndrome|Elsahy-Waters syndrome +GARD:0000957,Orphanet,ORPHA:1519,Disorder,Malformation syndrome,SPECC1L-related hypertelorism syndrome,Brachycephalofrontonasal dysplasia|Teebi hypertelorism syndrome +GARD:0000958,Orphanet,ORPHA:1272,Disorder,Malformation syndrome,Aymé-Gripp syndrome,Brachycephaly-deafness-cataract-intellectual disability syndrome|Brachycephaly-hearing loss-cataract-intellectual disability syndrome|Fine-Lubinsky syndrome +GARD:0000960,Orphanet,ORPHA:2619,Disorder,Disease,"Brachydactylous dwarfism, Mseleni type",Mseleni joint disease +GARD:0000966,Orphanet,ORPHA:1275,Disorder,Malformation syndrome,Brachydactyly-elbow wrist dysplasia syndrome,Brachydactyly-joint dysplasia syndrome|Liebenberg syndrome +GARD:0000967,Orphanet,ORPHA:1276,Disorder,Malformation syndrome,Brachydactyly-arterial hypertension syndrome,"Bilginturan brachydactyly|Bilginturan syndrome|Brachydactyly type E, with short stature and hypertension" +GARD:0000968,Orphanet,ORPHA:2946,Disorder,Malformation syndrome,Brachydactyly-long thumb syndrome,"Brachydactyly, long thumb type" +GARD:0000971,Orphanet,ORPHA:1246,Disorder,Malformation syndrome,Brachydactyly-nystagmus-cerebellar ataxia syndrome,Biemond syndrome +GARD:0000972,Orphanet,ORPHA:1278,Disorder,Malformation syndrome,Brachydactyly-preaxial hallux varus syndrome, +GARD:0000978,Orphanet,ORPHA:93388,Disorder,Malformation syndrome,Brachydactyly type A1,"Brachydactyly, Farabee type" +GARD:0000979,Orphanet,ORPHA:93396,Disorder,Malformation syndrome,Brachydactyly type A2,"Brachydactyly, Mohr-Wriedt type" +GARD:0000983,Orphanet,ORPHA:93382,Disorder,Malformation syndrome,Brachydactyly type A6,Osebold-Remondini syndrome +GARD:0000984,Orphanet,ORPHA:93397,Disorder,Malformation syndrome,Brachydactyly type A7,"Brachydactyly, Smorgasbord type" +GARD:0000985,Orphanet,ORPHA:93383,Disorder,Malformation syndrome,Brachydactyly type B, +GARD:0000986,Orphanet,ORPHA:93384,Disorder,Malformation syndrome,Brachydactyly type C, +GARD:0000987,Orphanet,ORPHA:93387,Disorder,Malformation syndrome,Brachydactyly type E, +GARD:0000990,Orphanet,ORPHA:93394,Disorder,Malformation syndrome,Brachydactyly type A4,"Brachydactyly, Temtamy type|Brachymesophalangy II and V" +GARD:0000992,Orphanet,ORPHA:2713,Disorder,Malformation syndrome,Oculoosteocutaneous syndrome, +GARD:0000994,Orphanet,ORPHA:263482,Disorder,Disease,"Spondyloepiphyseal dysplasia, Maroteaux type",Pseudo-Morquio syndrome type 2 +GARD:0000995,Orphanet+OMIM,OMIM:271530,Subtype of disorder,Malformation syndrome subtype,"Brachyolmia type 1, hobaek type","Brachyolmia, recessive type of hobaek|spondylodysplasia with pure brachyolmia" +GARD:0000998,Orphanet,ORPHA:1538,Disorder,Malformation syndrome,Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome,Braddock-Jones-Superneau syndrome +GARD:0001002,Orphanet,ORPHA:1131,Disorder,Malformation syndrome,X-linked mandibulofacial dysostosis,"Mandibulofacial dysostosis, Toriello type|X-linked branchial arch syndrome|X-linked mandibulofacial dysostosis with limb anomalies" +GARD:0001017,Orphanet,ORPHA:666,Disorder,Disease,Osteogenesis imperfecta,Brittle bone disease|Glass bone disease|Lobstein disease|OI +GARD:0001019,Orphanet,ORPHA:90354,Disorder,Disease,Brittle cornea syndrome, +GARD:0001025,Orphanet,ORPHA:2357,Disorder,Morphological anomaly,Bronchogenic cyst, +GARD:0001029,Orphanet,ORPHA:2771,Disorder,Malformation syndrome,Bruck syndrome,Osteogenesis imperfecta-congenital joint contractures syndrome +GARD:0001030,Orphanet,ORPHA:130,Disorder,Disease,Brugada syndrome,"Idiopathic ventricular fibrillation, Brugada type" +GARD:0001033,Orphanet,ORPHA:47,Subtype of disorder,Clinical subtype,X-linked agammaglobulinemia,BTK-deficiency|Bruton type agammaglobulinemia +GARD:0001037,Orphanet,ORPHA:2285,Disorder,Morphological anomaly,Primary basilar invagination,Bull-Nixon syndrome +GARD:0001038,Orphanet,ORPHA:1867,Disorder,Disease,"Hereditary bullous dystrophy, macular type", +GARD:0001039,Orphanet,ORPHA:312,Disorder,Disease,Autosomal dominant epidermolytic ichthyosis,BCIE|Bullous congenital ichthyosiform erythroderma|Bullous congenital ichthyosiform erythroderma of Brock|Bullous ichthyosis|EHK|EI|Epidermolytic hyperkeratosis|Ichthyosis hystrix Brocq type +GARD:0001044,Orphanet,ORPHA:1306,Disorder,Malformation syndrome,Buschke-Ollendorff syndrome,Disseminated dermatofibrosis with osteopoikilosis +GARD:0001049,Orphanet,ORPHA:136,Disorder,Disease,Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,CADASIL|Hereditary multi-infarct dementia +GARD:0001051,Orphanet,ORPHA:1310,Disorder,Malformation syndrome,Caffey disease,Infantile cortical hyperostosis +GARD:0001052,Orphanet,ORPHA:1375,Disorder,Malformation syndrome,Cataract-hypertrichosis-intellectual disability syndrome,CAHMR syndrome +GARD:0001053,Orphanet,ORPHA:220402,Subtype of disorder,Clinical subtype,Limited cutaneous systemic sclerosis,Limited cutaneous systemic scleroderma +GARD:0001057,Orphanet,ORPHA:267,Disorder,Disease,Calpain-3-related limb-girdle muscular dystrophy R1,Autosomal recessive limb-girdle muscular dystrophy type 2A|Calpain-3-related LGMD R1|LGMD type 2A|LGMD2A|Limb-girdle muscular dystrophy due to calpain deficiency|Limb-girdle muscular dystrophy type 2A|Primary calpainopathy +GARD:0001058,Orphanet,ORPHA:391327,Disorder,Disease,X-linked calvarial hyperostosis, +GARD:0001061,Orphanet,ORPHA:1318,Disorder,Malformation syndrome,"Campomelia, Cumming type", +GARD:0001062,Orphanet,ORPHA:1319,Disorder,Malformation syndrome,Camptobrachydactyly, +GARD:0001063,Orphanet,ORPHA:1320,Disorder,Morphological anomaly,Idiopathic camptocormia,Idiopathic camptocormism|Idiopathic progressive lumbar kyphosis +GARD:0001064,Orphanet,ORPHA:1321,Disorder,Malformation syndrome,Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome,Goodman camptodactyly +GARD:0001067,Orphanet,ORPHA:1327,Disorder,Malformation syndrome,"Camptodactyly syndrome, Guadalajara type 1", +GARD:0001068,Orphanet,ORPHA:1326,Disorder,Malformation syndrome,"Camptodactyly syndrome, Guadalajara type 2", +GARD:0001069,Orphanet,ORPHA:1325,Disorder,Malformation syndrome,Camptodactyly-taurinuria syndrome,Familial streblodactyly with amino-aciduria +GARD:0001071,Orphanet+OMIM,OMIM:211990,Subtype of disorder,Malformation syndrome subtype,"Camptomelic syndrome, long-limb type","Campomelic syndrome, long-limb type" +GARD:0001072,Orphanet,ORPHA:1328,Disorder,Malformation syndrome,Camurati-Engelmann disease,Progressive diaphyseal dysplasia +GARD:0001077,Orphanet,ORPHA:1334,Disorder,Disease,Chronic mucocutaneous candidiasis,CMC +GARD:0001078,Orphanet,ORPHA:2233,Disorder,Disease,Hypogonadism-mitral valve prolapse-intellectual disability syndrome,Cantalamessa-Baldini-Ambrosi syndrome +GARD:0001084,Orphanet,ORPHA:188,Disorder,Disease,Systemic capillary leak syndrome,Capillary hyperpermeability syndrome|Capillary leak syndrome|Clarkson disease|Idiopathic capillary leak syndrome|SCLS +GARD:0001093,Orphanet+OMIM,OMIM:113900,Subtype of disorder,Disease subtype,"Progressive familial heart block, type ia","cardiac conduction defect, progressive|heart block, progressive familial, type i|Pfhbia|hereditary bundle branch system defect|bundle branch block|lenegre-lev disease" +GARD:0001094,Orphanet,ORPHA:1686,Disorder,Morphological anomaly,Cardiac diverticulum, +GARD:0001096,Orphanet,ORPHA:555877,Disorder,Morphological anomaly,FLNA-related X-linked myxomatous valvular dysplasia,FLNA-related valvular dystrophy|Filamin A-related X-linked myxomatous valvular dysplasia +GARD:0001100,Orphanet,ORPHA:500,Disorder,Malformation syndrome,Noonan syndrome with multiple lentigines,Cardiomyopathic lentiginosis|Familial multiple lentigines syndrome|LEOPARD syndrome +GARD:0001102,Orphanet,ORPHA:1345,Disorder,Disease,Cardiomyopathy-cataract-hip spine disease syndrome,Krasnow-Qazi syndrome +GARD:0001104,Orphanet+OMIM,OMIM:115200,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1a","Cardiomyopathy, dilated, with conduction defect 1|cardiomyopathy, familial idiopathic|cardiomyopathy, idiopathic dilated|cardiomyopathy, congestive" +GARD:0001118,Orphanet,ORPHA:293843,Disorder,Malformation syndrome,3MC syndrome,Craniofacial-ulnar-renal syndrome|Malpuech-Michels-Mingarelli-Carnevale syndrome +GARD:0001119,Orphanet,ORPHA:1359,Disorder,Disease,Carney complex,Carney syndrome|Myxoma-spotty pigmentation-endocrine overactivity syndrome +GARD:0001120,Orphanet,ORPHA:156,Disorder,Disease,Carnitine palmitoyl transferase 1A deficiency,CPT1A deficiency|Carnitine palmitoyl transferase IA deficiency|Hepatic carnitine palmitoyl transferase 1 deficiency|Hepatic carnitine palmitoyl transferase I deficiency|L-CPT1 deficiency|L-CPTI deficiency +GARD:0001121,Orphanet,ORPHA:157,Disorder,Disease,Carnitine palmitoyltransferase II deficiency,CPT2|CPTII|Carnitine palmitoyltransferase deficiency type 2 +GARD:0001123,Orphanet,ORPHA:159,Disorder,Disease,Carnitine-acylcarnitine translocase deficiency,CACT deficiency +GARD:0001128,Orphanet,ORPHA:2767,Disorder,Malformation syndrome,Carpotarsal osteochondromatosis,Maroteaux-Le Merrer-Bensahel syndrome +GARD:0001130,Orphanet,ORPHA:2902,Disorder,Disease,Idiopathic chronic eosinophilic pneumonia,Chronic eosinophilic pneumonia +GARD:0001133,Orphanet,ORPHA:85288,Disorder,Malformation syndrome,"X-linked intellectual disability, Stocco Dos Santos type", +GARD:0001139,Orphanet,ORPHA:1366,Disorder,Disease,Autosomal recessive palmoplantar keratoderma and congenital alopecia,"Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia|Cataract-alopecia-sclerodactyly syndrome|PPK-CA, Wallis type|Palmoplantar keratoderma and congenital alopecia, Wallis type" +GARD:0001140,Orphanet,ORPHA:98988,Subtype of disorder,Clinical subtype,Early-onset anterior polar cataract,Early-onset anterior subcapsular cataract +GARD:0001141,Orphanet,ORPHA:1368,Disorder,Disease,Cataract-ataxia-deafness syndrome,Cataract-ataxia-hearing loss syndrome +GARD:0001142,Orphanet,ORPHA:1369,Disorder,Disease,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,Sengers syndrome +GARD:0001144,Orphanet+OMIM,OMIM:115700,Subtype of disorder,Malformation syndrome subtype,"Cataract 4, multiple types","Cataract 4, multiple types, with or without microcornea|cataract, punctate, progressive juvenile-onset|cataract, congenital, cerulean type, 3|cataract, nonnuclear polymorphic congenital|cataract, crystalline aculeiform" +GARD:0001155,Orphanet,ORPHA:1377,Disorder,Malformation syndrome,Cataract-microcornea syndrome, +GARD:0001159,Orphanet,ORPHA:98994,Subtype of disorder,Clinical subtype,Total early-onset cataract, +GARD:0001160,Orphanet,ORPHA:162,Disorder,Malformation syndrome,Cataract-glaucoma syndrome, +GARD:0001163,Orphanet,ORPHA:1123,Disorder,Malformation syndrome,Caudal appendage-deafness syndrome,Caudal appendage-hearing loss syndrome|Lynch-Lee-Murday syndrome +GARD:0001164,Orphanet,ORPHA:1756,Disorder,Malformation syndrome,Caudal duplication,Dipygus|Split notochord syndrome +GARD:0001167,Orphanet,ORPHA:2008,Disorder,Malformation syndrome,Acrocardiofacial syndrome,ACFS|CCGE syndrome|Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome +GARD:0001188,Orphanet,ORPHA:1171,Disorder,Disease,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,CAPOS syndrome|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome +GARD:0001189,Orphanet,ORPHA:1174,Disorder,Malformation syndrome,Cerebellar ataxia-ectodermal dysplasia syndrome, +GARD:0001191,Orphanet,ORPHA:254886,Disorder,Disease,Autosomal recessive progressive external ophthalmoplegia,arPEO +GARD:0001195,Orphanet,ORPHA:85186,Disorder,Malformation syndrome,Endosteal sclerosis-cerebellar hypoplasia syndrome, +GARD:0001196,Orphanet,ORPHA:2246,Disorder,Malformation syndrome,Cerebellar hypoplasia-tapetoretinal degeneration syndrome, +GARD:0001199,Orphanet,ORPHA:1170,Disorder,Disease,Autosomal recessive cerebelloparenchymal disorder type 3,Autosomal recessive spinocerebellar ataxia type 2|SCAR2 +GARD:0001200,Orphanet,ORPHA:1397,Disorder,Malformation syndrome,Hydrocephaly-cerebellar agenesis syndrome, +GARD:0001210,Orphanet,ORPHA:1394,Disorder,Malformation syndrome,Cerebrofaciothoracic dysplasia,Pascual-Castroviejo syndrome type 1 +GARD:0001217,Orphanet,ORPHA:247691,Disorder,Disease,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,RVCL|RVCL-S|Retinal vasculopathy and cerebral leukoencephalopathy +GARD:0001218,Orphanet,ORPHA:228337,Subtype of disorder,Etiological subtype,CLN10 disease,Cathepsin D deficiency +GARD:0001219,Orphanet,ORPHA:228329,Subtype of disorder,Etiological subtype,CLN1 disease, +GARD:0001220,Orphanet,ORPHA:228366,Subtype of disorder,Etiological subtype,CLN7 disease, +GARD:0001222,Orphanet,ORPHA:228343,Subtype of disorder,Etiological subtype,CLN4B disease, +GARD:0001223,Orphanet,ORPHA:228360,Subtype of disorder,Etiological subtype,CLN5 disease, +GARD:0001224,Orphanet,ORPHA:228363,Subtype of disorder,Etiological subtype,CLN6 disease, +GARD:0001226,Orphanet,ORPHA:2218,Disorder,Disease,Cervical hypertrichosis-peripheral neuropathy syndrome, +GARD:0001233,Orphanet,ORPHA:1401,Disorder,Malformation syndrome,CHAND syndrome,Baughman syndrome|CHANDS|Curly hair-ankyloblepharon-nail dysplasia syndrome +GARD:0001234,Orphanet,ORPHA:2235,Disorder,Disease,Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,Chang-Davidson-Carlson syndrome +GARD:0001235,Orphanet,ORPHA:3282,Disorder,Disease,Multifocal atrial tachycardia,Chaotic atrial tachycardia|MAT +GARD:0001237,Orphanet,ORPHA:46627,Disorder,Malformation syndrome,Char syndrome,Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits +GARD:0001240,Orphanet,ORPHA:101078,Disorder,Disease,X-linked Charcot-Marie-Tooth disease type 4,CMT4X|CMTX4|Cowchock syndrome +GARD:0001243,Orphanet,ORPHA:101076,Disorder,Disease,X-linked Charcot-Marie-Tooth disease type 2,CMTX2 +GARD:0001244,Orphanet,ORPHA:101077,Disorder,Disease,X-linked Charcot-Marie-Tooth disease type 3,CMT3X|CMTX3 +GARD:0001245,Orphanet,ORPHA:101081,Disorder,Disease,Charcot-Marie-Tooth disease type 1A,CMT1A|Microduplication 17p12 +GARD:0001246,Orphanet,ORPHA:101082,Disorder,Disease,Charcot-Marie-Tooth disease type 1B,CMT1B +GARD:0001247,Orphanet,ORPHA:101083,Disorder,Disease,Charcot-Marie-Tooth disease type 1C,CMT1C +GARD:0001248,Orphanet,ORPHA:99946,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2A1,CMT2A1 +GARD:0001249,Orphanet,ORPHA:101101,Disorder,Disease,Charcot-Marie-Tooth disease type 2B2,AR-CMT2B2|Autosomal recessive axonal CMT4C3|Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 +GARD:0001250,Orphanet,ORPHA:99937,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2C,CMT2C +GARD:0001251,Orphanet,ORPHA:99938,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2D,CMT2D +GARD:0001252,Orphanet,ORPHA:99948,Disorder,Disease,Charcot-Marie-Tooth disease type 4A,CMT4A +GARD:0001253,Orphanet,ORPHA:99955,Disorder,Disease,Charcot-Marie-Tooth disease type 4B1,CMT4B1 +GARD:0001258,Orphanet,ORPHA:101075,Disorder,Disease,X-linked Charcot-Marie-Tooth disease type 1,CMT1X|CMTX1 +GARD:0001261,Orphanet,ORPHA:1406,Disorder,Malformation syndrome,Charlie M syndrome, +GARD:0001274,Orphanet,ORPHA:2888,Disorder,Malformation syndrome,Pierre Robin syndrome-faciodigital anomaly syndrome,Chitayat-Meunier-Hodgkinson syndrome|Pierre Robin sequence-faciodigital anomaly syndrome +GARD:0001280,Orphanet,ORPHA:171,Disorder,Disease,Primary sclerosing cholangitis,PSC +GARD:0001288,Orphanet,ORPHA:79304,Subtype of disorder,Clinical subtype,Progressive familial intrahepatic cholestasis type 2,BSEP deficiency|PFIC2 +GARD:0001289,Orphanet,ORPHA:79305,Subtype of disorder,Clinical subtype,Progressive familial intrahepatic cholestasis type 3,PFIC3 +GARD:0001292,Orphanet,ORPHA:1416,Disorder,Disease,Familial calcium pyrophosphate deposition,Calcium pyrophosphate dihydrate crystal deposition disease|Familial CC|Familial CPPD|Familial articular chondrocalcinosis|Hereditary CC|Hereditary articular chondrocalcinosis|Hereditary calcium pyrophosphate deposition +GARD:0001296,Orphanet,ORPHA:79345,Disorder,Malformation syndrome,Brachytelephalangic chondrodysplasia punctata, +GARD:0001300,Orphanet,ORPHA:2098,Disorder,Malformation syndrome,"Acromesomelic dysplasia, Grebe type","Chondrodysplasia, Grebe type" +GARD:0001301,Orphanet,ORPHA:289,Disorder,Malformation syndrome,Ellis Van Creveld syndrome,Chondroectodermal dysplasia|Mesodermic dysplasia +GARD:0001303,Orphanet,ORPHA:178,Disorder,Disease,Chordoma,Notochordal sarcoma +GARD:0001305,Orphanet,ORPHA:1429,Disorder,Disease,Benign hereditary chorea,BHC|Benign familial chorea +GARD:0001313,Orphanet,ORPHA:1313,Disorder,Disease,Infantile choroidocerebral calcification syndrome, +GARD:0001319,Orphanet,ORPHA:182,Disorder,Disease,Chromomycosis,Chromoblastomycosis +GARD:0001320,Orphanet,ORPHA:1437,Disorder,Malformation syndrome,Ring chromosome 1 syndrome,Ring 1|Ring chromosome 1|r(1) syndrome +GARD:0001322,Orphanet,ORPHA:1438,Disorder,Malformation syndrome,Ring chromosome 10 syndrome,Ring 10|Ring chromosome 10 +GARD:0001323,Orphanet,ORPHA:1580,Disorder,Malformation syndrome,Distal monosomy 10p,Distal 10p deletion|Monosomy 10pter|Telomeric deletion 10p +GARD:0001325,Orphanet,ORPHA:1439,Disorder,Malformation syndrome,Ring chromosome 12 syndrome,Ring 12|Ring chromosome 12 +GARD:0001327,Orphanet,ORPHA:1703,Disorder,Malformation syndrome,Mosaic trisomy 14,Mosaic trisomy chromosome 14|Trisomy 14 mosaicism +GARD:0001328,Orphanet,ORPHA:96177,Disorder,Malformation syndrome,Ring chromosome 15 syndrome,Ring 15|Ring chromosome 15 +GARD:0001333,Orphanet,ORPHA:1443,Disorder,Malformation syndrome,Ring chromosome 19 syndrome,Ring 19|Ring chromosome 19 +GARD:0001334,Orphanet,ORPHA:1444,Disorder,Malformation syndrome,Ring chromosome 20 syndrome,Ring 20|Ring chromosome 20 +GARD:0001336,Orphanet,ORPHA:1446,Disorder,Malformation syndrome,Ring chromosome 22 syndrome,Ring 22|Ring chromosome 22|r(22) syndrome +GARD:0001339,Orphanet,ORPHA:1447,Disorder,Malformation syndrome,Ring chromosome 4 syndrome,Ring 4|Ring chromosome 4|Syndrome r(4)|r(4) syndrome +GARD:0001345,Orphanet,ORPHA:1449,Disorder,Malformation syndrome,Ring chromosome 7 syndrome,Ring 7|Ring chromosome 7 +GARD:0001347,Orphanet,ORPHA:1450,Disorder,Malformation syndrome,Ring chromosome 8 syndrome,Ring 8|Ring chromosome 8|r(8) syndrome +GARD:0001348,Orphanet,ORPHA:96173,Disorder,Malformation syndrome,Ring chromosome 9 syndrome,Ring 9|Ring chromosome 9 +GARD:0001356,Orphanet,ORPHA:1451,Disorder,Disease,CINCA syndrome,Chronic infantile neurological cutaneous and articular syndrome|IOMID syndrome|Infantile-onset multisystem inflammatory disease|NOMID syndrome|Neonatal-onset multisystem inflammatory disease|Prieur-Griscelli syndrome +GARD:0001358,Orphanet,ORPHA:3068,Disorder,Disease,Intellectual disability-myopathy-short stature-endocrine defect syndrome,Chudley-Rozdilsky syndrome +GARD:0001359,Orphanet,ORPHA:1160,Disorder,Disease,Chylous ascites, +GARD:0001360,Orphanet+OMIM,OMIM:215518,Subtype of disorder,Disease subtype,Ciliary discoordination due to random ciliary orientation,Rutland ciliary disorientation syndrome +GARD:0001361,Orphanet+OMIM,OMIM:215520,Subtype of disorder,Disease subtype,Ciliary dyskinesia with transposition of ciliary microtubules, +GARD:0001369,Orphanet,ORPHA:3329,Disorder,Malformation syndrome,Tibial aplasia-ectrodactyly syndrome,Aplasia of tibia with split-hand/split-foot deformity|SHFLD syndrome|SHFM associated with aplasia of long bones|Split hand/foot malformation with long bone deficiency|Split-hand/foot malformation associated with aplasia of long bones|TH-SHFM|Tibial hemimelia with split hand/foot malformation|Tibial hemimelia-ectrodactyly syndrome +GARD:0001391,Orphanet,ORPHA:2016,Disorder,Malformation syndrome,Cleft palate-lateral synechia syndrome,CPLS syndrome +GARD:0001392,Orphanet,ORPHA:2015,Disorder,Malformation syndrome,Cleft palate-short stature-vertebral anomalies syndrome,Mathieu-De Broca-Bony syndrome +GARD:0001393,Orphanet,ORPHA:2010,Disorder,Malformation syndrome,Cleft palate-stapes fixation-oligodontia syndrome, +GARD:0001394,Orphanet,ORPHA:324601,Disorder,Malformation syndrome,X-linked cleft palate and ankyloglossia, +GARD:0001402,Orphanet,ORPHA:93274,Subtype of disorder,Clinical subtype,Thanatophoric dysplasia type 2,Cloverleaf skull-micromelic bone dysplasia syndrome|TD2|Thanatophoric dwarfism type 2|Thanatophoric dwarfism-cloverleaf skull syndrome +GARD:0001404,Orphanet+OMIM,OMIM:156830,Subtype of disorder,Clinical subtype,Micromelic bone dysplasia with cloverleaf skull, +GARD:0001410,Orphanet,ORPHA:1454,Disorder,Disease,Joubert syndrome with hepatic defect,COACH syndrome|Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|Gentile syndrome|JS-H|Joubert syndrome with congenital hepatic fibrosis +GARD:0001413,Orphanet,ORPHA:1911,Disorder,Malformation syndrome,Cocaine embryofetopathy,Fetal cocaine syndrome +GARD:0001415,Orphanet,ORPHA:90321,Subtype of disorder,Clinical subtype,Cockayne syndrome type 1,Cockayne syndrome type I +GARD:0001417,Orphanet,ORPHA:90324,Subtype of disorder,Clinical subtype,Cockayne syndrome type 3,Cockayne syndrome type III +GARD:0001418,Orphanet,ORPHA:1458,Disorder,Malformation syndrome,CODAS syndrome,Cerebrooculodentoauriculoskeletal syndrome +GARD:0001420,Orphanet,ORPHA:90322,Subtype of disorder,Clinical subtype,Cockayne syndrome type 2,Cockayne syndrome type II +GARD:0001421,Orphanet,ORPHA:1467,Disorder,Disease,Cogan syndrome, +GARD:0001425,Orphanet,ORPHA:2050,Disorder,Malformation syndrome,Cole-Carpenter syndrome,Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome +GARD:0001428,Orphanet,ORPHA:2412,Disorder,Malformation syndrome,Dislocation of the hip-dysmorphism syndrome,Collins-Pope syndrome +GARD:0001433,Orphanet,ORPHA:98943,Disorder,Morphological anomaly,Coloboma of eye lens, +GARD:0001434,Orphanet,ORPHA:98944,Disorder,Morphological anomaly,Coloboma of iris, +GARD:0001436,Orphanet,ORPHA:98945,Disorder,Morphological anomaly,Coloboma of macula, +GARD:0001437,Orphanet,ORPHA:1471,Disorder,Malformation syndrome,Coloboma of macula-brachydactyly type B syndrome,Sorsby syndrome +GARD:0001438,Orphanet,ORPHA:98947,Disorder,Morphological anomaly,Coloboma of optic disc,Coloboma of optic papilla +GARD:0001440,Orphanet,ORPHA:1473,Disorder,Malformation syndrome,Uveal coloboma-cleft lip and palate-intellectual disability, +GARD:0001443,Orphanet,ORPHA:77298,Disorder,Malformation syndrome,Anophthalmia/microphthalmia-esophageal atresia syndrome,MCOPS3|Syndromic microphthalmia type 3 +GARD:0001446,Orphanet,ORPHA:1198,Disorder,Morphological anomaly,Colonic atresia, +GARD:0001452,Orphanet+OMIM,OMIM:217000,Subtype of disorder,Disease subtype,Complement component 2 deficiency,C2 deficiency +GARD:0001454,Orphanet,ORPHA:1329,Disorder,Morphological anomaly,Complete atrioventricular septal defect,CAVC|Complete AVSD|Complete atrioventricular canal|Complete atrioventricular canal defect|Complete atrioventricular septal defect with atrial and ventricular components +GARD:0001460,Orphanet,ORPHA:3216,Disorder,Malformation syndrome,Conductive deafness-malformed external ear syndrome,Conductive hearing loss-malformed external ear syndrome|Mengel-Konigsmark syndrome +GARD:0001462,Orphanet+OMIM,OMIM:300085,Subtype of disorder,Disease subtype,"Cone-rod dystrophy, x-linked, 2", +GARD:0001463,Orphanet,ORPHA:1873,Disorder,Malformation syndrome,Jalili syndrome,Cone rod dystrophy-amelogenesis imperfecta syndrome +GARD:0001465,Orphanet,ORPHA:90790,Disorder,Disease,Congenital lipoid adrenal hyperplasia due to STAR deficency,CLAH +GARD:0001467,Orphanet,ORPHA:418,Group of disorders,Clinical group,Congenital adrenal hyperplasia,CAH +GARD:0001469,Orphanet,ORPHA:90793,Disorder,Disease,Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,"CAH due to 17-alpha-hydroxylase deficiency|Combined 17-hydroxylase/17,20-lyase deficiency" +GARD:0001470,Orphanet+OMIM,OMIM:300042,Subtype of disorder,Disease subtype,"Alopecia, congenital", +GARD:0001474,Orphanet,ORPHA:1216,Disorder,Disease,Autosomal dominant congenital benign spinal muscular atrophy,Autosomal dominant benign distal spinal muscular atrophy|Congenital benign spinal muscular atrophy with contractures|Congenital nonprogressive spinal muscular atrophy +GARD:0001475,Orphanet,ORPHA:2040,Disorder,Morphological anomaly,Congenital respiratory-biliary fistula, +GARD:0001480,Orphanet,ORPHA:294,Disorder,Disease,Fetal cytomegalovirus syndrome,Antenatal CMV infection|Antenatal cytomegalovirus infection|Mother-to-child transmission of cytomegalovirus syndrome +GARD:0001481,Orphanet,ORPHA:2140,Disorder,Morphological anomaly,Congenital diaphragmatic hernia,CDH +GARD:0001487,Orphanet,ORPHA:442,Group of disorders,Category,Congenital hypothyroidism, +GARD:0001489,Orphanet,ORPHA:2271,Disorder,Disease,Congenital ichthyosis-microcephalus-tetraplegia syndrome,Congenital ichthyosis-microcephalus-quadriplegia syndrome +GARD:0001493,Orphanet,ORPHA:2665,Disorder,Disease,Congenital mesoblastic nephroma, +GARD:0001495,Orphanet,ORPHA:2447,Group of disorders,Category,Congenital mitral malformation, +GARD:0001496,Orphanet,ORPHA:99057,Disorder,Morphological anomaly,Congenital mitral stenosis, +GARD:0001500,Orphanet,ORPHA:839,Disorder,Disease,"Congenital nephrotic syndrome, Finnish type",Finnish congenital nephrosis +GARD:0001502,Orphanet,ORPHA:104008,Group of disorders,Clinical group,Short bowel syndrome, +GARD:0001503,Orphanet,ORPHA:1987,Disorder,Malformation syndrome,Femoral agenesis/hypoplasia,Congenital short femur|Femoral intercalary meromelia +GARD:0001512,Orphanet,ORPHA:972,Disorder,Disease,Hereditary continuous muscle fiber activity, +GARD:0001513,Orphanet,ORPHA:725,Disorder,Disease,Continuous spikes and waves during sleep,CSWS|CSWSS syndrome|Continuous spikes and waves during slow-wave sleep|Epileptic encephalopathy with continuous spike-and-wave during slow sleep +GARD:0001515,Orphanet,ORPHA:1484,Disorder,Malformation syndrome,Contractures-ectodermal dysplasia-cleft lip/palate syndrome,Ladda-Zonana-Ramer syndrome +GARD:0001516,Orphanet,ORPHA:1662,Disorder,Disease,Restrictive dermopathy,Lethal hyperkeratosis-contracture syndrome|Lethal restrictive dermopathy|Lethal tight skin-contracture syndrome +GARD:0001518,Orphanet,ORPHA:140927,Disorder,Disease,Benign familial neonatal-infantile seizures,BFNIS|Benign neonatal-infantile epilepsy +GARD:0001519,Orphanet,ORPHA:1949,Disorder,Disease,Benign familial neonatal epilepsy,BFNS|Benign familial neonatal convulsions|Benign familial neonatal seizures +GARD:0001521,Orphanet,ORPHA:565,Disorder,Disease,Menkes disease,MD|Menkes kinky hair disease|Menkes syndrome +GARD:0001522,Orphanet,ORPHA:1551,Disorder,Disease,Familial benign copper deficiency,Familial benign hypocupremia +GARD:0001525,Orphanet,ORPHA:3177,Disorder,Malformation syndrome,Spinocerebellar degeneration-corneal dystrophy syndrome,Der Kaloustian-Jarudi-Khoury syndrome +GARD:0001529,Orphanet,ORPHA:1490,Disorder,Malformation syndrome,Corneal dystrophy-perceptive deafness syndrome,CDPD|Corneal dystrophy with progressive deafness|Corneal dystrophy with progressive hearing loss|Corneal dystrophy-perceptive hearing loss syndrome|Harboyan syndrome +GARD:0001531,Orphanet,ORPHA:3194,Disorder,Malformation syndrome,Corneodermatoosseous syndrome,CDO syndrome|Stern-Lubinsky-Durrie syndrome +GARD:0001533,Orphanet,ORPHA:2041,Disorder,Morphological anomaly,Coronary arterial fistula, +GARD:0001534,Orphanet,ORPHA:1081,Group of disorders,Category,Coronary artery congenital malformation, +GARD:0001537,Orphanet,ORPHA:1496,Disorder,Disease,Corpus callosum agenesis-neuronopathy syndrome,Andermann syndrome|Charlevoix disease +GARD:0001544,Orphanet,ORPHA:216694,Disorder,Morphological anomaly,Congenitally corrected transposition of the great arteries,Congenitally corrected transposition of the great vessels|Discordant ventriculoarterial and atrioventricular connections|Double discordance|L-transposition of the great arteries|Levo-transposition of the great arteries|Ventricular inversion|Ventriculoarterial and atrioventricular discordance +GARD:0001548,Orphanet,ORPHA:1389,Disorder,Malformation syndrome,Cortical blindness-intellectual disability-polydactyly syndrome, +GARD:0001550,Orphanet,ORPHA:3071,Disorder,Malformation syndrome,Costello syndrome,FCS syndrome|Faciocutaneoskeletal syndrome +GARD:0001551,Orphanet,ORPHA:2391,Disorder,Malformation syndrome,Congenitally short costocoracoid ligament, +GARD:0001555,Orphanet,ORPHA:93333,Disorder,Malformation syndrome,Pelviscapular dysplasia,Cousin syndrome|Familial pelvis-scapular dysplasia +GARD:0001558,Orphanet,ORPHA:1508,Disorder,Malformation syndrome,Coxoauricular syndrome, +GARD:0001561,Orphanet,ORPHA:202,Disorder,Disease,Crandall syndrome,Alopecia-deafness-hypogonadism syndrome|Alopecia-hearing loss-hypogonadism syndrome|Alopecia-sensorineural deafness-hypogonadism syndrome|Alopecia-sensorineural hearing loss-hypogonadism syndrome +GARD:0001564,Orphanet,ORPHA:1525,Disorder,Malformation syndrome,Cranio-osteoarthropathy,Currarino disease|Currarino idiopathic osteoarthropathy|Reginato-Schiapachasse syndrome +GARD:0001567,Orphanet,ORPHA:1513,Disorder,Malformation syndrome,Craniodiaphyseal dysplasia, +GARD:0001571,Orphanet,ORPHA:1529,Disorder,Malformation syndrome,Craniofacial-deafness-hand syndrome,CDHS|Craniofacial-hearing loss-hand syndrome|Sommer-Young-Wee-Frye syndrome +GARD:0001575,Orphanet,ORPHA:1516,Disorder,Malformation syndrome,Non-syndromic bilambdoid and sagittal craniosynostosis,BLSS|Bilateral lambdoid and sagittal synostosis|Isolated sagittal and bilambdoid craniosynostosis|Non-syndromic sagittal and bilateral lambdoid synostosis +GARD:0001578,Orphanet,ORPHA:1520,Disorder,Malformation syndrome,Craniofrontonasal dysplasia,CFND|CFNS|Craniofrontonasal syndrome +GARD:0001581,Orphanet+OMIM,OMIM:123000,Subtype of disorder,Malformation syndrome subtype,"Craniometaphyseal dysplasia, autosomal dominant","craniometaphyseal dysplasia, jackson type|Cmd" +GARD:0001582,Orphanet+OMIM,OMIM:218400,Subtype of disorder,Malformation syndrome subtype,"Craniometaphyseal dysplasia, autosomal recessive", +GARD:0001583,Orphanet,ORPHA:1524,Disorder,Malformation syndrome,Craniomicromelic syndrome, +GARD:0001601,Orphanet,ORPHA:1527,Disorder,Malformation syndrome,"Craniosynostosis, Philadelphia type", +GARD:0001602,Orphanet,ORPHA:1225,Disorder,Malformation syndrome,Baller-Gerold syndrome, +GARD:0001605,Orphanet,ORPHA:1528,Disorder,Malformation syndrome,Craniotelencephalic dysplasia, +GARD:0001608,Orphanet,ORPHA:52503,Disorder,Disease,X-linked creatine transporter deficiency,Creatine transporter deficiency|SLC6A8 deficiency +GARD:0001609,Orphanet,ORPHA:504,Disorder,Disease,Creeping myiasis,Migratory myiasis +GARD:0001611,Orphanet,ORPHA:1545,Disorder,Malformation syndrome,Crisponi syndrome, +GARD:0001613,Orphanet,ORPHA:891,Disorder,Disease,Familial exudative vitreoretinopathy,Criswick-Schepens syndrome|FEVR +GARD:0001614,Orphanet,ORPHA:1380,Disorder,Malformation syndrome,Cataract-nephropathy-encephalopathy syndrome,Crome syndrome +GARD:0001617,Orphanet,ORPHA:2935,Disorder,Malformation syndrome,Crossed polysyndactyly, +GARD:0001620,Orphanet,ORPHA:1302,Disorder,Disease,Cryptogenic organizing pneumonia,BOOP|Bronchiolitis obliterans organizing pneumonia|COP +GARD:0001626,Orphanet,ORPHA:1552,Disorder,Malformation syndrome,Currarino syndrome,Currarino triad +GARD:0001629,Orphanet,ORPHA:423717,Disorder,Disease,Cutaneous larva migrans, +GARD:0001633,Orphanet,ORPHA:2881,Disorder,Disease,Cutaneous photosensitivity-lethal colitis syndrome, +GARD:0001638,Orphanet,ORPHA:357058,Disorder,Disease,Autosomal recessive cutis laxa type 2A,ARCL2A +GARD:0001639,Orphanet,ORPHA:90348,Disorder,Disease,Autosomal dominant cutis laxa,ADCL +GARD:0001641,Orphanet,ORPHA:357064,Disorder,Disease,Autosomal recessive cutis laxa type 2B,"ARCL2, progeroid type|ARCL2B|Autosomal recessive cutis laxa type 2, progeroid type" +GARD:0001643,Orphanet,ORPHA:671,Group of disorders,Clinical group,Primary cutis verticis gyrata, +GARD:0001646,Orphanet,ORPHA:3327,Disorder,Malformation syndrome,Thyrocerebrorenal syndrome,Cutler-Bass-Romshe syndrome +GARD:0001654,Orphanet,ORPHA:229,Disorder,Disease,Familial aortic dissection,Annuloaortic ectasia|Cystic medial necrosis of aorta +GARD:0001666,Orphanet,ORPHA:2181,Disorder,Malformation syndrome,Hydrocephaly-tall stature-joint laxity syndrome,Daish-Hardman-Lamont syndrome +GARD:0001669,Orphanet,ORPHA:1566,Disorder,Malformation syndrome,Dandy-Walker malformation-postaxial polydactyly syndrome,DWM with postaxial polydactyly|Pierquin syndrome +GARD:0001671,Orphanet,ORPHA:2091,Disorder,Malformation syndrome,Multinodular goiter-cystic kidney-polydactyly syndrome,Daneman-Davy-Mancer syndrome|Thyroid-renal-digital anomalies +GARD:0001680,Orphanet,ORPHA:1570,Disorder,Malformation syndrome,Symbrachydactyly of hands and feet,De Smet-Fabry-Fryns syndrome +GARD:0001684,Orphanet,ORPHA:3232,Disorder,Malformation syndrome,Deafness-ear malformation-facial palsy syndrome,Hearing loss-ear malformation-facial palsy syndrome|Sellars-Beighton syndrome +GARD:0001685,Orphanet,ORPHA:79500,Disorder,Malformation syndrome,DOORS syndrome,Autosomal recessive deafness-onychodystrophy syndrome|Autosomal recessive hearing loss-onychodystrophy syndrome|DOOR syndrome|Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome|Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome|Deafness-onychoosteodystrophy-intellectual disability syndrome|Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome|Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome|Hearing loss-onychoosteodystrophy-intellectual disability syndrome +GARD:0001686,Orphanet,ORPHA:3241,Disorder,Malformation syndrome,Deafness-craniofacial syndrome,Hearing loss-craniofacial syndrome +GARD:0001687,Orphanet,ORPHA:3220,Disorder,Malformation syndrome,Deafness-enamel hypoplasia-nail defects syndrome,Hearing loss-enamel hypoplasia-nail defects syndrome|Heimler syndrome +GARD:0001688,Orphanet,ORPHA:3218,Disorder,Malformation syndrome,Deafness-epiphyseal dysplasia-short stature syndrome,Chitty-Hall-Baraitser syndrome|Hearing loss-epiphyseal dysplasia-short stature syndrome +GARD:0001691,Orphanet,ORPHA:90646,Disorder,Malformation syndrome,Deafness-hypogonadism syndrome,Hearing loss-hypogonadism syndrome +GARD:0001695,Orphanet,ORPHA:2408,Disorder,Malformation syndrome,Lowe-Kohn-Cohen syndrome,Deafness-nephritis-ano-rectal malformation syndrome|Hearing loss-nephritis-ano-rectal malformation syndrome +GARD:0001696,Orphanet,ORPHA:231679,Subtype of disorder,Clinical subtype,Isolated growth hormone deficiency type II,Congenital IGHD type II|Congenital isolated GH deficiency type II|Congenital isolated growth hormone deficiency type II +GARD:0001697,Orphanet+OMIM,OMIM:220290,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 1a", +GARD:0001698,Orphanet,ORPHA:3230,Disorder,Malformation syndrome,Deafness-oligodontia syndrome,Hearing loss-oligodontia syndrome +GARD:0001705,Orphanet,ORPHA:3239,Disorder,Malformation syndrome,Deafness-vitiligo-achalasia syndrome,Hearing loss-vitiligo-achalasia syndrome +GARD:0001708,Orphanet+OMIM,OMIM:605192,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 23", +GARD:0001722,Orphanet,ORPHA:315,Disorder,Disease,Erythrokeratoderma ''en cocardes'',"Degos genodermatosis ""en cocardes""" +GARD:0001727,Orphanet,ORPHA:3034,Disorder,Malformation syndrome,Delayed membranous cranial ossification,Gonzales-del Angel syndrome +GARD:0001802,Orphanet,ORPHA:283,Disorder,Disease,Demodicidosis,Demodicosis +GARD:0001804,Orphanet,ORPHA:93622,Subtype of disorder,Clinical subtype,Dent disease type 1, +GARD:0001806,Orphanet,ORPHA:99791,Subtype of disorder,Clinical subtype,Dentin dysplasia type II,DD-II|DTDP2 +GARD:0001807,Orphanet,ORPHA:99789,Subtype of disorder,Clinical subtype,Dentin dysplasia type I,DD-I|DTDP1|Radicular dentin dysplasia +GARD:0001808,Orphanet,ORPHA:99792,Disorder,Disease,Dentin dysplasia-sclerotic bones syndrome, +GARD:0001810,Orphanet,ORPHA:3270,Disorder,Malformation syndrome,Radioulnar synostosis-developmental delay-hypotonia syndrome,Der Kaloustian-McIntosh-Silver syndrome +GARD:0001813,Orphanet,ORPHA:1659,Disorder,Disease,Dermatoleukodystrophy,Cutis laxa-leukodystrophy +GARD:0001814,Orphanet,ORPHA:1657,Disorder,Malformation syndrome,"Dermatoosteolysis, Kirghizian type", +GARD:0001815,Orphanet,ORPHA:79149,Disorder,Disease,Dermochondrocorneal dystrophy,François syndrome +GARD:0001816,Orphanet,ORPHA:1660,Disorder,Malformation syndrome,Dermoodontodysplasia, +GARD:0001818,Orphanet,ORPHA:1425,Disorder,Malformation syndrome,Desbuquois syndrome,DBQD|Desbuquois dysplasia +GARD:0001820,Orphanet,ORPHA:873,Disorder,Disease,Desmoid tumor,Aggressive fibromatosis|Desmoid type fibromatosis +GARD:0001823,Orphanet,ORPHA:1799,Disorder,Clinical syndrome,Familial developmental dysphasia,Billard-Toutain-Maheut syndrome|FOXP2-associated dysphasia +GARD:0001827,Orphanet,ORPHA:1666,Disorder,Morphological anomaly,Dextrocardia, +GARD:0001839,Orphanet,ORPHA:99886,Disorder,Disease,Transient neonatal diabetes mellitus,TNDM +GARD:0001850,Orphanet,ORPHA:37042,Disorder,Disease,Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,Autoimmune enteropathy type 1|IPEX +GARD:0001851,Orphanet,ORPHA:1671,Subtype of disorder,Clinical subtype,Split cord malformation type I,SCM type 1|SCM type I|Split cord malformation type 1 +GARD:0001855,Orphanet,ORPHA:2195,Disorder,Disease,Dicarboxylic aminoaciduria,Glutamate-aspartate transport defect +GARD:0001859,Orphanet,ORPHA:1916,Disorder,Malformation syndrome,Diethylstilbestrol syndrome,DES embryofetopathy|DES syndrome|Diethylstilbestrol embryofetopathy|Distilbene embryofetopathy +GARD:0001861,Orphanet,ORPHA:2123,Disorder,Malformation syndrome,Diffuse neonatal hemangiomatosis, +GARD:0001862,Orphanet,ORPHA:2337,Disorder,Disease,Non-epidermolytic palmoplantar keratoderma,"Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type|Diffuse palmoplantar keratoderma, Bothnian type|NEPPK" +GARD:0001872,Orphanet,ORPHA:227,Disorder,Morphological anomaly,Diphallia, +GARD:0001874,Orphanet,ORPHA:714,Disorder,Disease,Hemolytic anemia due to diphosphoglycerate mutase deficiency, +GARD:0001875,Orphanet,ORPHA:1679,Disorder,Disease,Diphtheria, +GARD:0001876,Orphanet,ORPHA:1681,Disorder,Morphological anomaly,Diprosopus,Craniofacial duplication|Diprosopia +GARD:0001883,Orphanet,ORPHA:345,Disorder,Disease,Dissecting cellulitis of the scalp, +GARD:0001886,Orphanet,ORPHA:98912,Disorder,Disease,"Late-onset distal myopathy, Markesbery-Griggs type",ZASP-related myofibrillar myopathy +GARD:0001887,Orphanet,ORPHA:600,Disorder,Disease,Vocal cord and pharyngeal distal myopathy,Distal myopathy with vocal cord weakness|MATR3-related distal myopathy|VCPDM +GARD:0001891,Orphanet,ORPHA:1685,Disorder,Disease,Distomatosis,Distomiasis|Fluke infection +GARD:0001894,Orphanet,ORPHA:3439,Disorder,Malformation syndrome,Von Voss-Cherstvoy syndrome,DK phocomelia syndrome|Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome +GARD:0001896,Orphanet,ORPHA:2014,Group of disorders,Clinical group,Cleft palate, +GARD:0001898,Orphanet,ORPHA:98995,Subtype of disorder,Clinical subtype,Early-onset zonular cataract, +GARD:0001899,Orphanet,ORPHA:2143,Disorder,Malformation syndrome,Donnai-Barrow syndrome,"DBS/FOAR syndrome|Diaphragmatic hernia-exomphalos-hypertelorism syndrome|Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome|Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome|FOAR syndrome|Facio-oculo-acoustico-renal syndrome|Holmes-Schepens syndrome|Syndrome of ocular and facial anomalies, telecanthus and deafness|Syndrome of ocular and facial anomalies, telecanthus and hearing loss" +GARD:0001902,Orphanet,ORPHA:101150,Disorder,Disease,Autosomal recessive dopa-responsive dystonia,Autosomal recessive Segawa syndrome|DYT5b|Tyrosine hydroxylase deficiency|Tyrosine hydroxylase-deficient dopa-responsive dystonia +GARD:0001903,Orphanet,ORPHA:230,Disorder,Disease,Dopamine beta-hydroxylase deficiency,DBH deficiency +GARD:0001904,Orphanet,ORPHA:99796,Disorder,Morphological anomaly,Subcortical band heterotopia,Subcortical laminar heterotopia +GARD:0001907,Orphanet,ORPHA:3427,Disorder,Morphological anomaly,Double outlet left ventricle,DOLV +GARD:0001908,Orphanet,ORPHA:3426,Disorder,Morphological anomaly,Double outlet right ventricle,DORV +GARD:0001910,Orphanet,ORPHA:3411,Disorder,Malformation syndrome,Double uterus-hemivagina-renal agenesis syndrome,Double uterus and obstructed hemivagina syndrome|Herlyn-Werner syndrome|OHVIRA syndrome|Obstructed hemivagina and ipsilateral renal anomaly|Wunderlich syndrome +GARD:0001912,Orphanet,ORPHA:75376,Disorder,Disease,Familial drusen,DHRD|Dominant drusen|Dominant radial drusen|Doyne honeycomb retinal dystrophy|Malattia leventinese +GARD:0001917,Orphanet,ORPHA:1656,Disorder,Disease,Dermatitis herpetiformis,Duhring-Brocq disease +GARD:0001975,Orphanet,ORPHA:237,Disorder,Morphological anomaly,Duplication of urethra, +GARD:0001993,Orphanet,ORPHA:2274,Disorder,Disease,Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,Dykes-Marks-Harper syndrome +GARD:0001994,Orphanet,ORPHA:1765,Disorder,Malformation syndrome,Dyschondrosteosis-nephritis syndrome, +GARD:0001996,Orphanet,ORPHA:241,Disorder,Disease,Dyschromatosis universalis hereditaria, +GARD:0001998,Orphanet,ORPHA:1766,Disorder,Disease,Dysequilibrium syndrome,CAMRQ syndrome|Cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|Non-progressive cerebellar ataxia-intellectual disability syndrome|UTS|Uner Tan syndrome +GARD:0001999,Orphanet,ORPHA:85,Group of disorders,Clinical group,Congenital dyserythropoietic anemia,CDA +GARD:0002000,Orphanet,ORPHA:98869,Disorder,Disease,Congenital dyserythropoietic anemia type I,CDA I|CDA type 1|CDA type I|Congenital dyserythropoietic anemia type 1 +GARD:0002001,Orphanet,ORPHA:98873,Disorder,Disease,Congenital dyserythropoietic anemia type II,CDA II|CDA type 2|CDA type II|Congenital dyserythropoietic anemia type 2|Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)|SEC23B-CDG +GARD:0002002,Orphanet,ORPHA:98870,Disorder,Disease,Congenital dyserythropoietic anemia type III,CDA III|CDA type 3|CDA type III|Congenital dyserythropoietic anemia type 3 +GARD:0002003,Orphanet,ORPHA:207073,Group of disorders,Category,Qualitative or quantitative defects of dysferlin,Dysferlinopathy +GARD:0002004,Orphanet,ORPHA:98881,Subtype of disorder,Clinical subtype,Familial dysfibrinogenemia, +GARD:0002005,Orphanet,ORPHA:182127,Disorder,Disease,Extragonadal germinoma, +GARD:0002007,Orphanet+OMIM,OMIM:305000,Subtype of disorder,Disease subtype,"Dyskeratosis congenita, x-linked",Zinsser-cole-engman syndrome +GARD:0002009,Orphanet,ORPHA:1779,Disorder,Malformation syndrome,Dysmorphism-cleft palate-loose skin syndrome, +GARD:0002012,Orphanet,ORPHA:1782,Disorder,Malformation syndrome,Dysosteosclerosis, +GARD:0002013,Orphanet+OMIM,OMIM:180700,Subtype of disorder,Clinical subtype,"Robinow syndrome, autosomal dominant 1",acral dysostosis with facial and genital abnormalities|fetal face syndrome|Robinow dwarfism +GARD:0002015,Orphanet,ORPHA:1795,Disorder,Malformation syndrome,Peripheral dysostosis, +GARD:0002016,Orphanet,ORPHA:1798,Disorder,Malformation syndrome,"Dysostosis, Stanescu type","Autosomal dominant osteosclerosis, Stanescu type|Craniofacial dysostosis-diaphyseal hyperplasia syndrome|Stanescu osteosclerosis" +GARD:0002019,Orphanet,ORPHA:1822,Disorder,Malformation syndrome,Dysplasia epiphysealis hemimelica,Trevor disease +GARD:0002022,Orphanet,ORPHA:2204,Disorder,Malformation syndrome,Dysplastic cortical hyperostosis,Kozlowski-Tsuruta syndrome +GARD:0002026,Orphanet,ORPHA:1865,Disorder,Disease,"Dyssegmental dysplasia, Silverman-Handmaker type", +GARD:0002027,Orphanet,ORPHA:256,Disorder,Disease,Early-onset generalized limb-onset dystonia,Dystonia musculorum deformans|EOTD|Early-onset generalized torsion dystonia|Early-onset isolated dystonia|Early-onset primary dystonia|Early-onset torsion dystonia|Idiopathic torsion dystonia|Oppenheim dystonia +GARD:0002028,Orphanet,ORPHA:99657,Disorder,Disease,"Primary dystonia, DYT2 type",DYT2 +GARD:0002031,Orphanet,ORPHA:207085,Group of disorders,Category,Qualitative or quantitative defects of dystrophin,Dystrophinopathy +GARD:0002033,Orphanet,ORPHA:2554,Disorder,Malformation syndrome,Ear-patella-short stature syndrome,Meier-Gorlin syndrome +GARD:0002035,Orphanet,ORPHA:319218,Disorder,Disease,Ebola hemorrhagic fever,EHF|Ebola fever|Ebola virus disease +GARD:0002044,Orphanet,ORPHA:1816,Disorder,Malformation syndrome,Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,"Berlin syndrome|Ectodermal dysplasia, Berlin type" +GARD:0002045,Orphanet,ORPHA:1806,Disorder,Malformation syndrome,Ectodermal dysplasia-blindness syndrome, +GARD:0002048,Orphanet,ORPHA:1810,Subtype of disorder,Etiological subtype,Autosomal dominant hypohidrotic ectodermal dysplasia,AD-HED|Autosomal dominant anhidrotic ectodermal dysplasia +GARD:0002049,Orphanet,ORPHA:1882,Disorder,Malformation syndrome,Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,ANOTHER syndrome|HEDH syndrome +GARD:0002055,Orphanet,ORPHA:1818,Disorder,Malformation syndrome,"Ectodermal dysplasia, trichoodontoonychial type", +GARD:0002056,Orphanet,ORPHA:189,Disorder,Disease,Hidrotic ectodermal dysplasia,Clouston syndrome +GARD:0002057,Orphanet,ORPHA:248,Subtype of disorder,Etiological subtype,Autosomal recessive hypohidrotic ectodermal dysplasia,AR-HED|Autosomal recessive anhidrotic ectodermal dysplasia +GARD:0002060,Orphanet+OMIM,OMIM:225100,Subtype of disorder,Malformation syndrome subtype,"Ectopia lentis 2, isolated, autosomal recessive", +GARD:0002068,Orphanet,ORPHA:1892,Disorder,Malformation syndrome,Ectrodactyly-polydactyly syndrome, +GARD:0002071,Orphanet,ORPHA:1997,Disorder,Malformation syndrome,Blepharo-cheilo-odontic syndrome,BCD syndrome|Blepharocheilodontic syndrome|Clefting-ectropion-conical teeth syndrome|Ectropion inferior-cleft lip and/or palate syndrome|Elschnig syndrome|Lagophthalmia-cleft lip and palate syndrome +GARD:0002074,Orphanet,ORPHA:1895,Disorder,Malformation syndrome,Edinburgh malformation syndrome,Typus Edinburgensis +GARD:0002076,Orphanet,ORPHA:1896,Disorder,Malformation syndrome,EEC syndrome,Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome +GARD:0002078,Orphanet,ORPHA:1897,Disorder,Malformation syndrome,EEM syndrome,Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome +GARD:0002081,Orphanet,ORPHA:285,Disorder,Disease,Hypermobile Ehlers-Danlos syndrome,EDS III|EDS-HT|Ehlers-Danlos syndrome hypermobility type|Ehlers-Danlos syndrome type 3|Hypermobile EDS|hEDS +GARD:0002082,Orphanet,ORPHA:286,Disorder,Disease,Vascular Ehlers-Danlos syndrome,Arterial-ecchymotic EDS|EDS IV|Ehlers-Danlos syndrome type 4|Sack-Barabas syndrome|Vascular EDS|vEDS +GARD:0002083,Orphanet,ORPHA:536545,Disorder,Disease,Kyphoscoliotic Ehlers-Danlos syndrome,EDS VI|Ehlers-Danlos syndrome type 6|Kyphoscoliotic EDS|kEDS +GARD:0002084,Orphanet,ORPHA:1899,Disorder,Disease,Arthrochalasia Ehlers-Danlos syndrome,"Arthrochalasia EDS|Arthrochalasis multiplex congenita|EDS VII|Ehlers-Danlos syndrome type 7|Ehlers-Danlos syndrome, arthrochalasia type|aEDS" +GARD:0002088,Orphanet,ORPHA:287,Disorder,Disease,Classical Ehlers-Danlos syndrome,Classical EDS|cEDS +GARD:0002089,Orphanet,ORPHA:1901,Disorder,Disease,Dermatosparaxis Ehlers-Danlos syndrome,Dermatosparaxis EDS|Ehlers-Danlos syndrome type 7C|Human dermatosparaxis EDS VIIC|dEDS +GARD:0002092,Orphanet,ORPHA:1902,Disorder,Disease,Ehrlichiosis, +GARD:0002096,Orphanet,ORPHA:221054,Disorder,Malformation syndrome,Acrocephalopolydactyly,Acrocephalopolydactylous dysplasia|Elejalde syndrome +GARD:0002098,Orphanet,ORPHA:2516,Disorder,Malformation syndrome,Microcephaly-cardiac defect-lung malsegmentation syndrome,Ellis-Yale-Winter syndrome +GARD:0002102,Orphanet,ORPHA:98863,Subtype of disorder,Etiological subtype,X-linked Emery-Dreifuss muscular dystrophy, +GARD:0002104,Orphanet,ORPHA:1928,Disorder,Morphological anomaly,Congenital lobar emphysema,Congenital lobar hyperinflation|Infantile lobar hyperinflation +GARD:0002108,Orphanet,ORPHA:2396,Disorder,Disease,Encephalocraniocutaneous lipomatosis,Haberland syndrome +GARD:0002113,Orphanet,ORPHA:1261,Disorder,Malformation syndrome,Bonnemann-Meinecke-Reich syndrome,Encephalopathy-intracerebral calcification-retinal degeneration syndrome +GARD:0002123,Orphanet,ORPHA:1937,Disorder,Malformation syndrome,Eng-Strom syndrome,Short stature-locking fingers syndrome +GARD:0002125,Orphanet,ORPHA:99849,Disorder,Disease,Glycogen storage disease due to muscle beta-enolase deficiency,GSD due to muscle beta-enolase deficiency|GSDXIII|Glycogenosis due to muscle beta-enolase deficiency|Glycogenosis type 13|Muscle enolase deficiency|Muscular enolase deficiency +GARD:0002130,Orphanet,ORPHA:292,Disorder,Disease,Congenital enterovirus infection,Antenatal enterovirus infection|Mother-to-child transmission of enterovirus infection +GARD:0002137,Orphanet,ORPHA:257,Disorder,Disease,Epidermolysis bullosa simplex with muscular dystrophy,EBS with muscular dystrophy|EBS-MD|Limb-girdle muscular dystrophy with epidermolysis bullosa simplex +GARD:0002139,Orphanet,ORPHA:231568,Disorder,Disease,Autosomal dominant generalized dystrophic epidermolysis bullosa,Generalized DDEB +GARD:0002141,Orphanet,ORPHA:79396,Disorder,Disease,"Autosomal dominant generalized epidermolysis bullosa simplex, severe form","Autosomal dominant generalized EBS, severe form|Epidermolysis bullosa simplex herpetiformis|Epidermolysis bullosa simplex, Dowling-Meara type" +GARD:0002143,Orphanet,ORPHA:79405,Disorder,Disease,Junctional epidermolysis bullosa inversa,JEB inversa|JEB-I +GARD:0002146,Orphanet,ORPHA:79400,Disorder,Disease,Localized epidermolysis bullosa simplex,"EBS-loc|Epidermolysis bullosa simplex of palms and soles|Epidermolysis bullosa simplex, Weber-Cockayne type|Localized EBS" +GARD:0002147,Orphanet,ORPHA:79399,Disorder,Disease,"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form","Autosomal dominant generalized EBS, intermediate form|Epidermolysis bullosa simplex, Koebner type|Epidermolysis bullosa simplex, Köbner type" +GARD:0002148,Orphanet,ORPHA:79401,Disorder,Disease,PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement,PLEC-related intermediate EBS without extracutaneous involvement +GARD:0002150,Orphanet,ORPHA:303,Group of disorders,Clinical group,Dystrophic epidermolysis bullosa,DEB|Dermolytic epidermolysis bullosa|Epidermolysis bullosa dystrophica +GARD:0002152,Orphanet,ORPHA:305,Group of disorders,Clinical group,Junctional epidermolysis bullosa,Epidermolysis bullosa atrophicans|JEB +GARD:0002153,Orphanet,ORPHA:79404,Disorder,Disease,Severe generalized junctional epidermolysis bullosa,"Epidermolysis bullosa letalis|JEB-H|Junctional epidermolysis bullosa generalisata gravis|Junctional epidermolysis bullosa, Herlitz type|Junctional epidermolysis bullosa, Herlitz-Pearson type|Severe generalized JEB" +GARD:0002155,Orphanet,ORPHA:79410,Subtype of disorder,Clinical subtype,"Localized dystrophic epidermolysis bullosa, pretibial form","DEB-Pt|Localized DEB, pretibial form" +GARD:0002162,Orphanet,ORPHA:1941,Disorder,Disease,Juvenile absence epilepsy,JAE +GARD:0002166,Orphanet,ORPHA:1459,Disorder,Disease,Celiac disease-epilepsy-cerebral calcification syndrome,CEC +GARD:0002167,Orphanet,ORPHA:263516,Subtype of disorder,Clinical subtype,Progressive myoclonic epilepsy type 3,CLN14 disease|EPM3|PME type 3|Progressive myoclonic epilepsy due to KCTD7 deficiency|Progressive myoclonus epilepsy type 3 +GARD:0002168,Orphanet,ORPHA:1951,Disorder,Disease,Epilepsy-telangiectasia syndrome, +GARD:0002169,Orphanet,ORPHA:1942,Disorder,Disease,Myoclonic-astatic epilepsy,Doose syndrome|EMAS|Epilepsy with myoclonic-astatic seizures|Epilepsy with myoclonic-atonic seizures|MAE|Myoclonic atonic epilepsy|Myoclonic-astatic epilepsy in early childhood +GARD:0002170,Orphanet,ORPHA:25968,Disorder,Disease,Benign occipital epilepsy, +GARD:0002173,Orphanet,ORPHA:309,Group of disorders,Clinical group,Familial partial epilepsy, +GARD:0002178,Orphanet,ORPHA:1825,Disorder,Malformation syndrome,Epiphyseal dysplasia-hearing loss-dysmorphism syndrome,Epiphyseal dysplasia-deafness-dysmorphism syndrome|Finucane-Kurtz-Scott syndrome +GARD:0002180,Orphanet,ORPHA:93308,Disorder,Disease,Multiple epiphyseal dysplasia type 1,EDM1|MED1|Polyepiphyseal dysplasia type 1 +GARD:0002188,Orphanet,ORPHA:222,Disorder,Disease,Erosive pustular dermatosis of the scalp, +GARD:0002191,Orphanet+OMIM,OMIM:609536,Subtype of disorder,Disease subtype,Complement component 5 deficiency,C5 deficiency +GARD:0002192,Orphanet,ORPHA:1954,Disorder,Disease,Congenital lethal erythroderma, +GARD:0002195,Orphanet,ORPHA:2405,Disorder,Malformation syndrome,Thickened earlobes-conductive deafness syndrome,Escher-Hirt syndrome|Thickened earlobes-conductive hearing loss syndrome +GARD:0002197,Orphanet,ORPHA:1957,Disorder,Disease,Esthesioneuroblastoma,Olfactory neuroblastoma +GARD:0002198,Orphanet,ORPHA:51188,Disorder,Disease,Ethylmalonic encephalopathy, +GARD:0002202,Orphanet,ORPHA:1962,Disorder,Malformation syndrome,Exostoses-anetodermia-brachydactyly type E syndrome, +GARD:0002204,Orphanet+OMIM,OMIM:133700,Subtype of disorder,Disease subtype,"Exostoses, multiple, type i",multiple osteochondromas|multiple cartilaginous exostoses|osteochondromatosis|diaphyseal aclasis|Ext +GARD:0002205,Orphanet+OMIM,OMIM:133701,Subtype of disorder,Disease subtype,"Exostoses, multiple, type ii", +GARD:0002206,Orphanet+OMIM,OMIM:600209,Subtype of disorder,Disease subtype,"Exostoses, multiple, type iii", +GARD:0002207,Orphanet,ORPHA:322,Disorder,Malformation syndrome,Exstrophy-epispadias complex,BEEC|Bladder exstrophy-epispadias-cloacal extrophy complex|EEC +GARD:0002213,Orphanet,ORPHA:1964,Disorder,Malformation syndrome,Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome,Char-Douglas-Dungan syndrome +GARD:0002216,Orphanet,ORPHA:3172,Disorder,Malformation syndrome,Eyebrow duplication-syndactyly syndrome, +GARD:0002221,Orphanet,ORPHA:1969,Disorder,Malformation syndrome,Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome,FACES syndrome|Friedman-Goodman syndrome +GARD:0002222,Orphanet,ORPHA:1970,Disorder,Malformation syndrome,Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome, +GARD:0002229,Orphanet,ORPHA:1972,Disorder,Malformation syndrome,Lethal faciocardiomelic dysplasia, +GARD:0002230,Orphanet,ORPHA:1973,Disorder,Malformation syndrome,Faciocardiorenal syndrome,Eastman-Bixler syndrome +GARD:0002237,Orphanet,ORPHA:326,Disorder,Disease,Congenital factor V deficiency,Owren disease|Parahemophilia|Proaccelerin deficiency +GARD:0002238,Orphanet,ORPHA:327,Disorder,Disease,Congenital factor VII deficiency,Congenital proconvertin deficiency|Hypoproconvertinemia +GARD:0002245,Orphanet,ORPHA:3303,Disorder,Malformation syndrome,Tetralogy of Fallot, +GARD:0002249,Orphanet,ORPHA:91387,Disorder,Disease,Familial thoracic aortic aneurysm and aortic dissection,Familial TAAD|Familial non-syndromic thoracic aortic aneurysm and aortic dissection +GARD:0002250,Orphanet+OMIM,OMIM:600348,Subtype of disorder,Morphological anomaly subtype,Band heterotopia, +GARD:0002252,Orphanet,ORPHA:467,Group of disorders,Category,Non-acquired combined pituitary hormone deficiency,Congenital combined pituitary hormone deficiency|Congenital hypopituitarism +GARD:0002254,Orphanet,ORPHA:922,Disorder,Disease,Familial nasal acilia, +GARD:0002256,Orphanet,ORPHA:93337,Disorder,Morphological anomaly,Polydactyly of an index finger,PPD3|Preaxial polydactyly type 3 +GARD:0002257,Orphanet,ORPHA:101046,Disorder,Disease,Autosomal dominant epilepsy with auditory features,ADEAF|ADLTE|ADPEAF|Autosomal dominant lateral temporal lobe epilepsy|Partial epilepsy with auditory aura|Partial epilepsy with auditory features +GARD:0002258,Orphanet,ORPHA:99810,Subtype of disorder,Etiological subtype,Familial porencephaly, +GARD:0002259,Orphanet,ORPHA:2456,Disorder,Morphological anomaly,Familial supernumerary nipples,Isolated polythelia +GARD:0002268,Orphanet,ORPHA:2088,Disorder,Disease,Fanconi-Bickel syndrome,GSD due to GLUT2 deficiency|Glycogen storage disease due to GLUT2 deficiency|Glycogenosis due to GLUT2 deficiency +GARD:0002276,Orphanet,ORPHA:2064,Disorder,Malformation syndrome,Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,Faulk-Epstein-Jones syndrome +GARD:0002279,Orphanet,ORPHA:1192,Disorder,Malformation syndrome,Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome|Feigenbaum-Bergeron-Richardson syndrome +GARD:0002285,Orphanet,ORPHA:1986,Disorder,Malformation syndrome,Gollop-Wolfgang complex,Bifid femur-monodactylous ectrodactyly syndrome +GARD:0002286,Orphanet,ORPHA:2019,Disorder,Malformation syndrome,Femur-fibula-ulna complex,FFU complex|Femur-fibula-ulna dysostosis|Femur-fibula-ulna syndrome|PFFD +GARD:0002287,Orphanet,ORPHA:1184,Disorder,Malformation syndrome,Ataxia-photosensitivity-short stature syndrome,Fenton-Wilkinson-Toselano syndrome +GARD:0002293,Orphanet+OMIM,OMIM:300073,Subtype of disorder,Malformation syndrome subtype,"Fetal akinesia syndrome, x-linked", +GARD:0002294,Orphanet,ORPHA:1908,Disorder,Malformation syndrome,Aminopterin/methotrexate embryofetopathy,Aminopterin embryopathy syndrome|Fetal aminopterin syndrome +GARD:0002295,Orphanet,ORPHA:853,Disorder,Disease,Fetal and neonatal alloimmune thrombocytopenia,FNAIT|NAIT +GARD:0002303,Orphanet,ORPHA:1909,Disorder,Malformation syndrome,Indomethacin embryofetopathy,Fetal indomethacin syndrome +GARD:0002304,Orphanet,ORPHA:1910,Disorder,Malformation syndrome,Fetal iodine syndrome, +GARD:0002305,Orphanet,ORPHA:1055,Disorder,Malformation syndrome,Congenital left ventricular aneurysm, +GARD:0002308,Orphanet,ORPHA:1918,Disorder,Malformation syndrome,Fetal minoxidil syndrome,Minoxidil antenatal infection +GARD:0002313,Orphanet,ORPHA:3312,Disorder,Malformation syndrome,Thalidomide embryopathy,Fetal thalidomide syndrome +GARD:0002317,Orphanet,ORPHA:93932,Disorder,Disease,FG syndrome type 1,Opitz-Kaveggia syndrome +GARD:0002320,Orphanet,ORPHA:335,Disorder,Disease,Congenital fibrinogen deficiency, +GARD:0002321,Orphanet,ORPHA:2021,Disorder,Disease,Fibrochondrogenesis, +GARD:0002322,Orphanet,ORPHA:122,Disorder,Malformation syndrome,Birt-Hogg-Dubé syndrome,Fibrofolliculomas with trichodiscomas and acrochordons|Hornstein-Knickenberg syndrome +GARD:0002324,Orphanet,ORPHA:2026,Disorder,Malformation syndrome,Gingival fibromatosis-hypertrichosis syndrome,CGHT|Congenital generalized hypertrichosis terminalis|Hirsutism-congenital gingival hyperplasia syndrome|Hypertrichosis with or without gingival hyperplasia +GARD:0002327,Orphanet,ORPHA:2030,Disorder,Disease,Fibrosarcoma, +GARD:0002331,Orphanet,ORPHA:1118,Disorder,Malformation syndrome,Fibular aplasia-ectrodactyly syndrome, +GARD:0002336,Orphanet,ORPHA:1658,Disorder,Disease,Absence of fingerprints-congenital milia syndrome,Absence of dermatoglyphics-congenital milia syndrome|Baird syndrome|Basan-Baird syndrome +GARD:0002339,Orphanet,ORPHA:85448,Disorder,Disease,AGel amyloidosis,"Familial amyloid polyneuropathy type IV|Familial amyloidosis, Finnish type|Gelsolin amyloidosis|Hereditary amyloidosis, Finnish type" +GARD:0002342,Orphanet,ORPHA:2820,Disorder,Clinical syndrome,Spastic paraplegia-nephritis-deafness syndrome,Fitzsimmons-Walson-Mellor syndrome|Spastic paraplegia-nephritis-hearing loss syndrome +GARD:0002344,Orphanet,ORPHA:2824,Disorder,Malformation syndrome,Paraplegia-intellectual disability-hyperkeratosis syndrome,Fitzsimmons-McLachlan-Gilbert syndrome +GARD:0002346,Orphanet,ORPHA:2045,Disorder,Disease,FLOTCH syndrome,Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome +GARD:0002347,Orphanet,ORPHA:2047,Disorder,Disease,Flynn-Aird syndrome, +GARD:0002351,Orphanet,ORPHA:2048,Disorder,Malformation syndrome,Foix-Chavany-Marie syndrome,Bilateral anterior opercular syndrome|Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation|Facio-pharyngo-glosso-masticatory diplegia +GARD:0002356,Orphanet,ORPHA:545,Disorder,Disease,Follicular lymphoma, +GARD:0002362,Orphanet,ORPHA:3238,Disorder,Malformation syndrome,Cardiospondylocarpofacial syndrome,Forney syndrome|Forney-Robinson-Pascoe syndrome|Mitral regurgitation-deafness-skeletal anomalies syndrome|Mitral regurgitation-hearing loss-skeletal anomalies syndrome +GARD:0002365,Orphanet,ORPHA:2795,Disorder,Disease,Fowler urethral sphincter dysfunction syndrome,Fowler syndrome|Fowler-Christmas-Chapple syndrome +GARD:0002375,Orphanet,ORPHA:347,Disorder,Disease,Frasier syndrome, +GARD:0002378,Orphanet,ORPHA:100973,Disorder,Disease,FRAXE intellectual disability,Intellectual disability associated with fragile site FRAXE +GARD:0002380,Orphanet,ORPHA:564003,Disorder,Disease,Osteochondrosis of the metatarsal bone,Avascular necrosis of the metatarsal bone|Freiberg disease|Freiberg infraction +GARD:0002381,Orphanet,ORPHA:2723,Disorder,Malformation syndrome,Odontotrichomelic syndrome,Freire-Maia syndrome +GARD:0002384,Orphanet,ORPHA:264200,Disorder,Malformation syndrome,14q22q23 microdeletion syndrome,14q22-q23 microdeletion syndrome|Del(14)(q22q23)|Monosomy 14q22-q23|Monosomy 14q22q23 +GARD:0002390,Orphanet,ORPHA:1791,Disorder,Malformation syndrome,Frontofacionasal dysplasia,Gollop syndrome +GARD:0002392,Orphanet,ORPHA:250,Group of disorders,Clinical group,Frontonasal dysplasia,Median cleft face syndrome +GARD:0002397,Orphanet,ORPHA:2141,Disorder,Malformation syndrome,Diaphragmatic defect-limb deficiency-skull defect syndrome,Froster-Huch syndrome +GARD:0002400,Orphanet,ORPHA:348,Disorder,Disease,"Fructose-1,6-bisphosphatase deficiency","FBPase deficiency|Fructose-1,6-diphosphatase deficiency" +GARD:0002408,Orphanet,ORPHA:2497,Disorder,Malformation syndrome,Upper limb mesomelic dysplasia,Fryns-Hofkens-Fabry syndrome|Ulna hypoplasia +GARD:0002409,Orphanet,ORPHA:2058,Disorder,Malformation syndrome,Fryns-Smeets-Thiry syndrome, +GARD:0002410,Orphanet,ORPHA:2854,Disorder,Malformation syndrome,Fuhrmann syndrome,Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome|Fuhrmann-Rieger-de Sousa syndrome +GARD:0002417,Orphanet,ORPHA:2579,Disorder,Disease,Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,Furukawa-Takagi-Nakao syndrome +GARD:0002418,Orphanet,ORPHA:591,Disorder,Disease,Furuncular myiasis,Furunculoid myiasis|Furunculous myiasis +GARD:0002419,Orphanet,ORPHA:2287,Disorder,Morphological anomaly,Fused mandibular incisors, +GARD:0002422,Orphanet,ORPHA:79237,Disorder,Disease,Galactokinase deficiency,GALK deficiency|GALK-D|Galactokinase deficiency galactosemia|Galactosemia type 2 +GARD:0002424,Orphanet,ORPHA:352,Group of disorders,Category,Galactosemia, +GARD:0002427,Orphanet,ORPHA:3035,Disorder,Malformation syndrome,Growth delay-hydrocephaly-lung hypoplasia syndrome,Game-Friedman-Paradice syndrome +GARD:0002428,Orphanet,ORPHA:212,Disorder,Disease,Cystathioninuria,Cystathionase deficiency|Cystathionine gamma-lyase deficiency syndrome|Gamma-cystathionase deficiency +GARD:0002429,Orphanet,ORPHA:353,Disorder,Disease,Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5,Autosomal recessive limb-girdle muscular dystrophy type 2C|Gamma-sarcoglycan-related LGMD R5|Gamma-sarcoglycanopathy|LGMD due to gamma-sarcoglycan deficiency|LGMD type 2C|LGMD2C|Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|Limb-girdle muscular dystrophy type 2C +GARD:0002430,Orphanet,ORPHA:251949,Disorder,Disease,Ganglioglioma, +GARD:0002431,Orphanet,ORPHA:79257,Subtype of disorder,Clinical subtype,GM1 gangliosidosis type 3,Adult-onset GM1 gangliosidosis +GARD:0002432,Orphanet,ORPHA:1018,Subtype of disorder,Clinical subtype,X-linked Alport syndrome-diffuse leiomyomatosis,Xq22.3 microdeletion syndrome +GARD:0002436,Orphanet,ORPHA:2494,Disorder,Disease,Ménétrier disease,Giant hypertrophic gastritis|Hypoproteinemic hypertrophic gastropathy +GARD:0002437,Orphanet,ORPHA:100092,Group of disorders,Category,Gastroenteropancreatic neuroendocrine neoplasm,GEP-NEN +GARD:0002438,Orphanet,ORPHA:2069,Disorder,Disease,Gastrocutaneous syndrome, +GARD:0002441,Orphanet,ORPHA:77259,Subtype of disorder,Clinical subtype,Gaucher disease type 1,Non-cerebral juvenile Gaucher disease +GARD:0002442,Orphanet,ORPHA:77260,Subtype of disorder,Clinical subtype,Gaucher disease type 2,Acute neuronopathic Gaucher disease|Infantile cerebral Gaucher disease +GARD:0002443,Orphanet,ORPHA:77261,Subtype of disorder,Clinical subtype,Gaucher disease type 3,"Cerebral juvenile and adult form of Gaucher disease|Chronic neuronopathic Gaucher disease|Gaucher disease, subacute neuronopathic type" +GARD:0002449,Orphanet,ORPHA:2623,Disorder,Malformation syndrome,Geleophysic dysplasia,Geleophysic dwarfism +GARD:0002451,Orphanet,ORPHA:2074,Disorder,Malformation syndrome,Gemignani syndrome,Spinocerebellar ataxia-amyotrophy-deafness syndrome|Spinocerebellar ataxia-amyotrophy-hearing loss syndrome +GARD:0002452,Orphanet,ORPHA:2084,Disorder,Malformation syndrome,Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,GEMSS syndrome +GARD:0002454,Orphanet,ORPHA:2163,Disorder,Malformation syndrome,Holoprosencephaly-craniosynostosis syndrome,Camero-Lituania-Cohen syndrome|Genoa syndrome +GARD:0002456,Orphanet+OMIM,OMIM:607948,Subtype of disorder,Disease subtype,"Mycobacterium tuberculosis, susceptibility to", +GARD:0002460,Orphanet,ORPHA:2075,Disorder,Malformation syndrome,Genitopalatocardiac syndrome,Gardner-Silengo-Wachtel syndrome +GARD:0002462,Orphanet,ORPHA:2077,Disorder,Malformation syndrome,German syndrome,Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome +GARD:0002469,Orphanet,ORPHA:626,Disorder,Disease,Large congenital melanocytic nevus,Congenital pigmented nevus|GMN|Giant congenital melanocytic nevus|Giant pigmented hairy nevus|LCMN +GARD:0002470,Orphanet,ORPHA:274,Disorder,Disease,Bernard-Soulier syndrome,Giant platelet syndrome|Hemorrhagiparous thrombocytic dystrophy +GARD:0002474,Orphanet+OMIM,OMIM:605544,Subtype of disorder,Malformation syndrome subtype,"Fibromatosis, gingival, 2", +GARD:0002475,Orphanet+OMIM,OMIM:611010,Subtype of disorder,Malformation syndrome subtype,"Fibromatosis, gingival, 4", +GARD:0002478,Orphanet,ORPHA:849,Disorder,Disease,Glanzmann thrombasthenia, +GARD:0002483,Orphanet,ORPHA:2085,Disorder,Disease,Glaucoma-sleep apnea syndrome, +GARD:0002485,Orphanet,ORPHA:98976,Disorder,Disease,Congenital glaucoma,Buphthalmia|Buphthalmos|Buphthalmus|Primary congenital glaucoma +GARD:0002486,Orphanet,ORPHA:359,Group of disorders,Category,Pediatric-onset glaucoma of genetic origin,Hereditary glaucoma +GARD:0002490,Orphanet+OMIM,OMIM:600975,Subtype of disorder,Disease subtype,"Glaucoma 3, primary infantile, b", +GARD:0002491,Orphanet,ORPHA:360,Disorder,Disease,Glioblastoma,GBM|Glioblastoma multiforme +GARD:0002492,Orphanet+OMIM,OMIM:137940,Subtype of disorder,Disease subtype,Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,telangiectatic membranoproliferative glomerulonephritis|Glomerulonephritis with sparse hair and telangiectases +GARD:0002496,Orphanet,ORPHA:97280,Disorder,Disease,Glucagonoma,Glucagonoma syndrome +GARD:0002498,Orphanet,ORPHA:361,Disorder,Disease,Familial glucocorticoid deficiency, +GARD:0002499,Orphanet,ORPHA:786,Disorder,Disease,Generalized glucocorticoid resistance syndrome, +GARD:0002513,Orphanet,ORPHA:2089,Disorder,Disease,Glycogen storage disease due to hepatic glycogen synthase deficiency,GSD due to hepatic glycogen synthase deficiency|GSD type 0a|Glycogen storage disease due to liver glycogen synthase deficiency|Glycogen storage disease type 0a|Glycogenosis type 0a +GARD:0002515,Orphanet,ORPHA:79259,Subtype of disorder,Clinical subtype,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,G6P deficiency type Ib|G6P translocase deficiency|G6PT deficiency|GSD due to G6P deficiency type 1b|GSD due to G6P deficiency type Ib|GSD due to G6PT deficiency|GSD type 1 non a|GSD type 1b|GSD type Ib|GSDIb|Glycogen storage disease due to G6P deficiency type Ib|Glycogen storage disease type 1b|Glycogen storage disease type Ib|Glycogenosis due to glucose-6-phosphatase deficiency type 1b|Glycogenosis due to glucose-6-phosphatase transport defect type Ib|Glycogenosis type 1b|Glycogenosis type Ib +GARD:0002520,Orphanet,ORPHA:367,Disorder,Disease,Glycogen storage disease due to glycogen branching enzyme deficiency,Amylopectinosis|Andersen disease|GSD due to glycogen branching enzyme deficiency|GSD type 4|GSD type IV|Glycogen storage disease type 4|Glycogen storage disease type IV|Glycogenosis due to glycogen branching enzyme deficiency|Glycogenosis type 4|Glycogenosis type IV +GARD:0002521,Orphanet,ORPHA:796,Disorder,Disease,Sandhoff disease,GM2 gangliosidosis 0 variant|Hexosaminidases A and B deficiency +GARD:0002523,Orphanet,ORPHA:2090,Disorder,Malformation syndrome,GMS syndrome,Goniodysgenesis-intellectual disability-short stature syndrome +GARD:0002541,Orphanet,ORPHA:1770,Disorder,Malformation syndrome,XY type gonadal dysgenesis-associated anomalies syndrome, +GARD:0002542,Orphanet,ORPHA:2855,Disorder,Disease,Perrault syndrome,XX gonodal dysgenesis-deafness syndrome|XX gonodal dysgenesis-hearing loss syndrome +GARD:0002546,Orphanet,ORPHA:1482,Disorder,Disease,Gonococcal conjunctivitis, +GARD:0002549,Orphanet,ORPHA:65798,Disorder,Malformation syndrome,Goodman syndrome,ACPS4|Acrocephalopolysyndactyly type 4 +GARD:0002551,Orphanet,ORPHA:375,Disorder,Disease,Anti-glomerular basement membrane disease,Anti-GBM syndrome|Goodpasture syndrome +GARD:0002553,Orphanet,ORPHA:376,Disorder,Malformation syndrome,Gordon syndrome,Camptodactyly-cleft palate-clubfoot syndrome|Distal arthrogryposis type 3|Distal arthrogryposis type IIA +GARD:0002557,Orphanet,ORPHA:2111,Disorder,Disease,Cystic hamartoma of lung and kidney,Graham-Boyle-Troxell syndrome +GARD:0002559,Orphanet,ORPHA:2097,Disorder,Malformation syndrome,Grant syndrome, +GARD:0002562,Orphanet,ORPHA:721,Disorder,Disease,Gray platelet syndrome,Alpha storage pool deficiency|GPS|Platelet alpha-granule deficiency +GARD:0002566,Orphanet,ORPHA:79476,Subtype of disorder,Clinical subtype,Griscelli syndrome type 1,Griscelli-Pruniéras syndrome type 1|Hypopigmentation-neurologic impairment syndrome +GARD:0002568,Orphanet,ORPHA:3217,Disorder,Disease,Deafness-small bowel diverticulosis-neuropathy syndrome,Groll-Hirschowitz syndrome|Hearing loss-small bowel diverticulosis-neuropathy syndrome +GARD:0002572,Orphanet,ORPHA:2588,Disorder,Malformation syndrome,Myhre syndrome,Facial dysmorphism-intellectual disability-short stature-deafness syndrome|Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome +GARD:0002576,Orphanet,ORPHA:2101,Disorder,Malformation syndrome,Grubben-de Cock-Borghgraef syndrome,Developmental delay-hypotonia-extremities hypertrophy syndrome +GARD:0002578,Orphanet,ORPHA:382,Disorder,Disease,Guanidinoacetate methyltransferase deficiency,GAMT deficiency +GARD:0002579,Orphanet+OMIM,OMIM:259700,Subtype of disorder,Malformation syndrome subtype,"Osteopetrosis, autosomal recessive 1","marble bones, autosomal recessive|Osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive" +GARD:0002580,Orphanet,ORPHA:1661,Disorder,Disease,X-linked corneal dermoid,Corneal dystrophy epithelial-short stature syndrome|Guízar Vázquez-Luengas-Muñoz syndrome +GARD:0002586,Orphanet,ORPHA:2107,Disorder,Malformation syndrome,Hall-Riggs syndrome, +GARD:0002589,Orphanet,ORPHA:2926,Disorder,Malformation syndrome,Digital extensor muscle aplasia-polyneuropathy,Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy|Hamanishi-Ueba-Tsuji syndrome|Polyneuropathy-hand defect syndrome +GARD:0002593,Orphanet,ORPHA:1927,Disorder,Malformation syndrome,Emery-Nelson syndrome,Hand and foot deformity-flat facies syndrome +GARD:0002594,Orphanet,ORPHA:2438,Disorder,Malformation syndrome,Hand-foot-genital syndrome,HFGS|Hand-foot-uterus syndrome +GARD:0002597,Orphanet,ORPHA:3294,Disorder,Malformation syndrome,Extensor tendons of finger anomalies,Hapnes-Boman-Skeie syndrome +GARD:0002598,Orphanet,ORPHA:2812,Disorder,Disease,Parana hard skin syndrome,"Hard skin syndrome, Parana type" +GARD:0002599,Orphanet,ORPHA:899,Disorder,Disease,Walker-Warburg syndrome,HARD syndrome|Hydrocephalus-agyria-retinal dysplasia syndrome|WWS +GARD:0002600,Orphanet,ORPHA:1177,Disorder,Disease,Early-onset cerebellar ataxia with retained tendon reflexes,EOCA|EOCARR|Harding ataxia +GARD:0002601,Orphanet,ORPHA:2115,Disorder,Malformation syndrome,Harrod syndrome,Cranio-facio-digito-genital syndrome +GARD:0002605,Orphanet,ORPHA:2994,Disorder,Malformation syndrome,Short stature-craniofacial anomalies-genital hypoplasia syndrome,Haspeslagh-Fryns-Muelenaere syndrome +GARD:0002610,Orphanet+OMIM,OMIM:604559,Subtype of disorder,Disease subtype,"Progressive familial heart block, type ib",Pfhbib +GARD:0002613,Orphanet,ORPHA:1354,Disorder,Malformation syndrome,Heart defects-limb shortening syndrome, +GARD:0002614,Orphanet,ORPHA:1342,Disorder,Malformation syndrome,Heart-hand syndrome type 3,"Atriodigital dysplasia type 3|Cardiomelic syndrome type 3|Heart-hand syndrome, Spanish type|Heart-limb syndrome type 3" +GARD:0002620,Orphanet,ORPHA:2119,Disorder,Malformation syndrome,HEC syndrome,Hydrocephalus-endocardial fibroelastosis-cataract syndrome +GARD:0002621,Orphanet,ORPHA:3377,Disorder,Malformation syndrome,Trismus-pseudocamptodactyly syndrome,Distal arthrogryposis type 7|Dutch-Kentucky syndrome|Hecht syndrome|Hecht-Beals syndrome +GARD:0002622,Orphanet,ORPHA:2492,Disorder,Malformation syndrome,FATCO syndrome,Fibular aplasia-tibial campomelia-oligosyndactyly syndrome|Hecht-Scott syndrome +GARD:0002627,Orphanet+OMIM,OMIM:234820,Subtype of disorder,Disease subtype,"Hemangiopericytoma, malignant", +GARD:0002630,Orphanet,ORPHA:2128,Disorder,Morphological anomaly,Isolated hemihyperplasia,Hemi 3 syndrome|Hemicorporal hypertrophy|Isolated hemihypertrophy +GARD:0002633,Orphanet,ORPHA:1241,Disorder,Malformation syndrome,Bencze syndrome,Hemifacial hyperplasia-strabismus syndrome +GARD:0002637,Orphanet,ORPHA:99802,Disorder,Malformation syndrome,Hemimegalencephaly,Unilateral megalencephaly +GARD:0002638,Orphanet+OMIM,OMIM:141500,Subtype of disorder,Disease subtype,"Migraine, familial hemiplegic, 1",Fhm|mhp1 +GARD:0002640,Orphanet,ORPHA:2132,Disorder,Disease,Hemoglobin C disease, +GARD:0002641,Orphanet,ORPHA:2133,Disorder,Disease,Hemoglobin E disease, +GARD:0002642,Orphanet,ORPHA:1046,Disorder,Malformation syndrome,Lethal hemolytic anemia-genital anomalies syndrome,Water-West syndrome +GARD:0002650,Orphanet,ORPHA:3325,Disorder,Disease,Heparin-induced thrombocytopenia,HAT|HIT|Heparin-associated thrombocytopenia|Heparin-induced thrombocytopenia type 2 +GARD:0002651,Orphanet,ORPHA:386,Disorder,Disease,Hepatic cystic hamartoma,Biliary hamartoma|MHL|Mesenchymal hamartoma of liver|VMC|Von Meyenburg complexes disease +GARD:0002657,Orphanet,ORPHA:449,Disorder,Disease,Hepatoblastoma, +GARD:0002658,Orphanet,ORPHA:882,Disorder,Disease,Tyrosinemia type 1,FAH deficiency|Fumarylacetoacetase deficiency|Fumarylacetoacetate hydrolase deficiency|Hepatorenal tyrosinemia|Tyrosinemia type I +GARD:0002659,Orphanet,ORPHA:621,Disorder,Disease,Hereditary methemoglobinemia,Autosomal recessive methemoglobinemia|Congenital methemoglobinemia +GARD:0002682,Orphanet,ORPHA:1808,Disorder,Malformation syndrome,"Hidrotic ectodermal dysplasia, Christianson-Fourie type",Christianson-Fourie syndrome +GARD:0002684,Orphanet,ORPHA:483,Disorder,Disease,Congenital high-molecular-weight kininogen deficiency, +GARD:0002690,Orphanet,ORPHA:2114,Disorder,Disease,"Hip dysplasia, Beukes type",BFHD|Beukes familial hip dysplasia|Cilliers-Beighton syndrome|Premature degenerative osteoarthropathy of the hip +GARD:0002695,Orphanet,ORPHA:2151,Disorder,Malformation syndrome,Hirschsprung disease-ganglioneuroblastoma syndrome, +GARD:0002700,Orphanet,ORPHA:2150,Disorder,Malformation syndrome,Hirschsprung disease-type D brachydactyly syndrome, +GARD:0002706,Orphanet,ORPHA:3283,Disorder,Disease,His bundle tachycardia,JET|Junctional ectopic tachycardia +GARD:0002708,Orphanet,ORPHA:2158,Disorder,Disease,Histidinuria-renal tubular defect syndrome, +GARD:0002712,Orphanet,ORPHA:35701,Disorder,Disease,3-hydroxy-3-methylglutaryl-CoA synthase deficiency,HMG-CoA synthase deficiency +GARD:0002714,Orphanet,ORPHA:98293,Group of disorders,Clinical group,Hodgkin lymphoma, +GARD:0002721,Orphanet,ORPHA:79242,Disorder,Disease,Holocarboxylase synthetase deficiency,Early-onset multiple carboxylase deficiency|Neonatal multiple carboxylase deficiency +GARD:0002722,Orphanet,ORPHA:2165,Disorder,Malformation syndrome,Holoprosencephaly-caudal dysgenesis syndrome, +GARD:0002725,Orphanet,ORPHA:2117,Disorder,Malformation syndrome,Hartsfield syndrome,Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome +GARD:0002727,Orphanet,ORPHA:3186,Disorder,Malformation syndrome,Holoprosencephaly-radial heart renal anomalies syndrome,Steinfeld syndrome +GARD:0002728,Orphanet,ORPHA:2167,Disorder,Malformation syndrome,Holzgreve syndrome,Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome|Holzgreve-Wagner-Rehder syndrome +GARD:0002734,Orphanet,ORPHA:395,Disorder,Disease,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,MTHFR deficiency|Methylene tetrahydrofolate reductase deficiency +GARD:0002742,Orphanet,ORPHA:1352,Disorder,Malformation syndrome,Atrioventricular defect-blepharophimosis-radial and anal defect syndrome,Houlston-Ironton-Temple syndrome +GARD:0002748,Orphanet,ORPHA:3265,Disorder,Morphological anomaly,Humero-radial synostosis,Humero-radial fusion +GARD:0002749,Orphanet,ORPHA:3266,Disorder,Morphological anomaly,Humero-radio-ulnar synostosis,Humero-radio-ulnar fusion +GARD:0002750,Orphanet,ORPHA:3383,Disorder,Malformation syndrome,Humerus trochlea aplasia, +GARD:0002754,Orphanet,ORPHA:97340,Disorder,Malformation syndrome,Hunter-McAlpine syndrome, +GARD:0002756,Orphanet,ORPHA:3365,Disorder,Malformation syndrome,Trigonocephaly-broad thumbs syndrome,Hunter-Rudd-Hoffmann syndrome +GARD:0002764,Orphanet,ORPHA:400,Disorder,Disease,Cystic echinococcosis,Hydatid disease|Hydatidosis +GARD:0002765,Orphanet,ORPHA:2898,Disorder,Malformation syndrome,X-linked intellectual disability-plagiocephaly syndrome,Hyde Forster-McCarthy-Berry syndrome +GARD:0002775,Orphanet,ORPHA:2183,Disorder,Malformation syndrome,Hydrocephalus-obesity-hypogonadism syndrome,Sengers-Hamel-Otten syndrome +GARD:0002783,Orphanet,ORPHA:1041,Disorder,Malformation syndrome,Hydrops fetalis,Fetal anasarca|Fetal hydrops|Generalized fetal edema|HF +GARD:0002787,Orphanet,ORPHA:401,Disorder,Disease,Hymenolepiasis, +GARD:0002788,Orphanet,ORPHA:343,Subtype of disorder,Clinical subtype,Hyperimmunoglobulinemia D with periodic fever,HIDS|Hyper-IgD syndrome|Hyperimmunoglobinemia D with recurrent fever|Hyperimmunoglobulinemia D syndrome|Partial mevalonate kinase deficiency +GARD:0002789,Orphanet,ORPHA:404,Disorder,Disease,Familial hyperaldosteronism type II,FH-II|FH2|Familial adrenal adenoma|Familial hyperaldosteronism type 2 +GARD:0002790,Orphanet,ORPHA:403,Disorder,Disease,Familial hyperaldosteronism type I,Dexamethasone-sensitive hypertension|FH-I|FH1|Familial hyperaldosteronism type 1|GRA|Glucocorticoid-remediable aldosteronism|Glucocorticoid-sensitive hypertension +GARD:0002791,Orphanet,ORPHA:2312,Disorder,Disease,Transient familial neonatal hyperbilirubinemia,Lucey-Driscoll syndrome +GARD:0002793,Orphanet,ORPHA:234,Disorder,Disease,Dubin-Johnson syndrome,Dubin-Sprinz disease|Hyperbilirubinemia type 2|Sprinz-Nelson syndrome +GARD:0002796,Orphanet,ORPHA:93372,Subtype of disorder,Etiological subtype,Familial hypocalciuric hypercalcemia type 1,FHH type 1 +GARD:0002804,Orphanet,ORPHA:168956,Group of disorders,Clinical group,Hypereosinophilic syndrome,HES +GARD:0002806,Orphanet,ORPHA:163,Disorder,Disease,Hereditary hyperferritinemia-cataract syndrome,Bonneau-Beaumont syndrome|HHCS|Hereditary hyperferritinemia with congenital cataracts +GARD:0002807,Orphanet,ORPHA:408,Disorder,Disease,Isolated glycerol kinase deficiency,Hyperglycerolemia +GARD:0002816,Orphanet,ORPHA:217390,Disorder,Disease,Combined immunodeficiency due to DOCK8 deficiency,CID due to DOCK8 deficiency|Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency|DOCK8 immunodeficiency syndrome +GARD:0002818,Orphanet,ORPHA:79299,Disorder,Disease,Hyperinsulinism due to glucokinase deficiency,Hyperinsulinemic hypoglycemia due to glucokinase deficiency +GARD:0002824,Orphanet,ORPHA:409,Disorder,Disease,Hyperkeratosis lenticularis perstans,Flegel disease +GARD:0002826,Orphanet,ORPHA:2199,Disorder,Disease,Epidermolytic palmoplantar keratoderma,"Diffuse erythrodermic palmoplantar keratoderma, Voerner type|Diffuse erythrodermic palmoplantar keratoderma, Vörner type|EPPK|Epidermolytic palmoplantar keratoderma of Voerner|Epidermolytic palmoplantar keratoderma of Vörner" +GARD:0002828,Orphanet,ORPHA:2203,Disorder,Disease,Hyperlysinemia,Hyperlysinemia type I|Lysine alpha-ketoglutarate reductase deficiency +GARD:0002830,Orphanet,ORPHA:415,Disorder,Disease,Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,HHH syndrome|ORNT1 deficiency|Ornithine carrier deficiency|Ornithine translocase deficiency|Triple H syndrome +GARD:0002831,Orphanet,ORPHA:2801,Disorder,Malformation syndrome,Juvenile Paget disease,Familial osteoectasia|Hereditary hyperphosphatasia|Hyperostosis corticalis deformans juvenilis|JPG +GARD:0002833,Orphanet,ORPHA:3416,Disorder,Malformation syndrome,Hyperostosis corticalis generalisata,Hyperphosphatasemia tarda|Van Buchem disease +GARD:0002835,Orphanet,ORPHA:93598,Subtype of disorder,Clinical subtype,Primary hyperoxaluria type 1,Glycolic aciduria|Peroxisomal alanine-glyoxylate aminotransferase deficiency +GARD:0002836,Orphanet,ORPHA:93599,Subtype of disorder,Clinical subtype,Primary hyperoxaluria type 2,D-glycerate dehydrogenase deficiency|L-glyceric aciduria +GARD:0002837,Orphanet,ORPHA:2207,Group of disorders,Clinical group,Familial primary hyperparathyroidism, +GARD:0002838,Orphanet,ORPHA:417,Disorder,Disease,Neonatal severe primary hyperparathyroidism,NSHPT +GARD:0002843,Orphanet,ORPHA:1578,Subtype of disorder,Clinical subtype,Pterin-4 alpha-carbinolamine dehydratase deficiency,Hyperphenylalaninemia due to dehydratase deficiency|Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency|Hyperphenylalaninemia with primapterinuria +GARD:0002844,Orphanet,ORPHA:2102,Subtype of disorder,Clinical subtype,GTP cyclohydrolase I deficiency,GTPCH deficiency|Hyperphenylalaninemia due to GTP cyclohydrolase deficiency +GARD:0002847,Orphanet,ORPHA:419,Disorder,Disease,Hyperprolinemia type 1,Proline oxidase deficiency +GARD:0002856,Orphanet,ORPHA:2216,Disorder,Malformation syndrome,Maternal hyperthermia-induced birth defects, +GARD:0002858,Orphanet,ORPHA:424,Disorder,Disease,Familial hyperthyroidism due to mutations in TSH receptor,Familial non-immune hyperthyroidism|Resistance to thyroid stimulating hormone +GARD:0002863,Orphanet,ORPHA:79495,Subtype of disorder,Clinical subtype,X-linked congenital generalized hypertrichosis,"Congenital generalized hypertrichosis, Macias-Flores type|Macias Flores-Garcia Cruz-Rivera syndrome" +GARD:0002864,Orphanet,ORPHA:2221,Disorder,Disease,Acquired hypertrichosis lanuginosa, +GARD:0002865,Orphanet,ORPHA:2222,Disorder,Disease,Hypertrichosis lanuginosa congenita,Hypertrichosis universalis +GARD:0002871,Orphanet,ORPHA:2224,Disorder,Disease,Hypertryptophanemia, +GARD:0002872,Orphanet,ORPHA:425,Disorder,Disease,Apolipoprotein A-I deficiency,ApoA-I deficiency|Familial apoA-I deficiency|Familial hypoalphalipoproteinemia +GARD:0002876,Orphanet+OMIM,OMIM:615558,Subtype of disorder,Disease subtype,"Hypobetalipoproteinemia, familial, 1","hypobetalipoproteinemia, normotriglyceridemic|acanthocytosis with hypobetalipoproteinemia|Hypobetalipoproteinemia, familial" +GARD:0002877,Orphanet,ORPHA:428,Subtype of disorder,Clinical subtype,Autosomal dominant hypocalcemia,AD hypocalcemia +GARD:0002878,Orphanet,ORPHA:101050,Subtype of disorder,Etiological subtype,Familial hypocalciuric hypercalcemia type 3,FHH type 3 +GARD:0002882,Orphanet,ORPHA:932,Disorder,Disease,Achondrogenesis, +GARD:0002887,Orphanet,ORPHA:101041,Subtype of disorder,Clinical subtype,Familial hypofibrinogenemia, +GARD:0002897,Orphanet+OMIM,OMIM:146110,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 7 with or without anosmia,"Hypogonadism, isolated hypogonadotropic|idiopathic hypogonadotropic hypogonadism" +GARD:0002905,Orphanet,ORPHA:154,Disorder,Disease,Familial isolated dilated cardiomyopathy,Familial or idiopathic dilated cardiomyopathy +GARD:0002906,Orphanet,ORPHA:31043,Subtype of disorder,Clinical subtype,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,FHHNC without severe ocular involvement|HOMG3|Renal hypomagnesemia type 3 +GARD:0002907,Orphanet,ORPHA:1790,Disorder,Malformation syndrome,Hypomandibular faciocranial dysostosis, +GARD:0002908,Orphanet,ORPHA:2491,Disorder,Malformation syndrome,Müllerian duct anomalies-limb anomalies syndrome, +GARD:0002910,Orphanet,ORPHA:2238,Disorder,Disease,Familial isolated hypoparathyroidism, +GARD:0002911,Orphanet,ORPHA:2237,Disorder,Malformation syndrome,Hypoparathyroidism-sensorineural deafness-renal disease syndrome,Barakat syndrome|HDR syndrome|Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome +GARD:0002914,Orphanet+OMIM,OMIM:307700,Subtype of disorder,Clinical subtype,"Hypoparathyroidism, x-linked", +GARD:0002922,Orphanet,ORPHA:98723,Group of disorders,Clinical group,Hypoplastic right heart syndrome, +GARD:0002926,Orphanet,ORPHA:325,Disorder,Disease,Congenital factor II deficiency,Dysprothrombinemia|Hypoprothrombinemia|Prothrombin deficiency +GARD:0002928,Orphanet,ORPHA:2261,Disorder,Malformation syndrome,"Hypospadias-intellectual disability, Goldblatt type syndrome",Goldblatt-Wallis syndrome +GARD:0002930,Orphanet,ORPHA:2353,Disorder,Malformation syndrome,Schilbach-Rott syndrome,BRSS|Hypotelorism-cleft palate-hypospadias syndrome +GARD:0002943,Orphanet,ORPHA:206428,Group of disorders,Clinical group,Hypoxanthine-guanine phosphoribosyltransferase deficiency,HPRT deficiency|HPRT1 deficiency|Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency +GARD:0002945,Orphanet,ORPHA:2268,Disorder,Malformation syndrome,ICF syndrome,Immunodeficiency-centromeric instability-facial anomalies syndrome +GARD:0002946,Orphanet+OMIM,OMIM:242150,Subtype of disorder,Disease subtype,"Keratitis-ichthyosis-deafness syndrome, autosomal recessive","kid syndrome, autosomal recessive|desmons syndrome|Ichthyosiform erythroderma, corneal involvement, and deafness" +GARD:0002952,Orphanet,ORPHA:2273,Disorder,Disease,Ichthyosis follicularis-alopecia-photophobia syndrome,IFAP syndrome|Ichthyosis follicularis-atrichia-photophobia syndrome +GARD:0002954,Orphanet,ORPHA:79503,Disorder,Disease,Ichthyosis hystrix of Curth-Macklin,"Ichthyosis hystrix, Curth-Macklin type" +GARD:0002960,Orphanet,ORPHA:2272,Disorder,Malformation syndrome,Ichthyosis-oral and digital anomalies syndrome,Clayton Smith-Donnai syndrome +GARD:0002966,Orphanet,ORPHA:455,Disorder,Disease,Superficial epidermolytic ichthyosis,Ichthyosis bullosa of Siemens|SEI +GARD:0002978,Orphanet+OMIM,OMIM:601631,Subtype of disorder,Morphological anomaly subtype,Anterior segment dysgenesis 3,"iris hypoplasia with glaucoma|glaucoma iridogoniodysplasia, familial|Iridogoniodysgenesis, type 1|iridogoniodysgenesis anomaly, autosomal dominant" +GARD:0002981,Orphanet+OMIM,OMIM:242670,Subtype of disorder,Disease subtype,Ciliary dyskinesia with defective radial spokes,Immotile cilia syndrome due to defective radial spokes +GARD:0002982,Orphanet+OMIM,OMIM:242680,Subtype of disorder,Disease subtype,Ciliary dyskinesia with excessively long cilia,Immotile cilia syndrome due to excessively long cilia +GARD:0002984,Orphanet+OMIM,OMIM:146830,Subtype of disorder,Disease subtype,"Immune deficiency, familial variable", +GARD:0002988,Orphanet,ORPHA:935,Disorder,Disease,Short-limb skeletal dysplasia with severe combined immunodeficiency,Achondroplasia-SCID syndrome|Achondroplasia-Swiss type agammaglobulinemia syndrome|Achondroplasia-severe combined immunodeficiency syndrome|Immunodeficiency-short limb dwarfism syndrome|Short limb skeletal dysplasia with SCID +GARD:0002989,Orphanet,ORPHA:2759,Disorder,Malformation syndrome,Imperforate oropharynx-costovertebral anomalies syndrome,Seghers syndrome +GARD:0002995,Orphanet,ORPHA:1943,Disorder,Disease,Early-onset progressive encephalopathy with migrant continuous myoclonus, +GARD:0002998,Orphanet,ORPHA:2591,Disorder,Disease,Infantile myofibromatosis, +GARD:0003002,Orphanet,ORPHA:3173,Disorder,Disease,Infantile spasms-broad thumbs syndrome,Tsao-Ellingson syndrome +GARD:0003006,Orphanet,ORPHA:642,Disorder,Disease,Hereditary sensory and autonomic neuropathy type 4,CIPA|Congenital insensitivity to pain with anhidrosis|HSAN4|Hereditary sensory and autonomic neuropathy type IV +GARD:0003007,Orphanet,ORPHA:1052,Disorder,Malformation syndrome,Mosaic variegated aneuploidy syndrome,Warburton-Anyane-Yeboa syndrome +GARD:0003008,Orphanet,ORPHA:2297,Disorder,Disease,Insulin-resistance syndrome type A, +GARD:0003009,Orphanet,ORPHA:2298,Disorder,Disease,Insulin-resistance syndrome type B, +GARD:0003010,Orphanet,ORPHA:97279,Disorder,Disease,Insulinoma, +GARD:0003012,Orphanet,ORPHA:981,Disorder,Morphological anomaly,Internal carotid absence, +GARD:0003013,Orphanet,ORPHA:2300,Disorder,Morphological anomaly,Multiple intestinal atresia,Familial intestinal polyatresia syndrome +GARD:0003017,Orphanet+OMIM,OMIM:300048,Subtype of disorder,Morphological anomaly subtype,"Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked","ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|Ipox|intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement" +GARD:0003020,Orphanet,ORPHA:46724,Disorder,Morphological anomaly,Cerebral arteriovenous malformation,Intracranial arteriovenous malformation +GARD:0003024,Orphanet,ORPHA:332,Disorder,Disease,Congenital intrinsic factor deficiency,Congenital pernicious anemia|Gastric intrinsic factor deficiency|Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency|IFD|Intrinsic factor deficiency +GARD:0003026,Orphanet+OMIM,OMIM:137600,Subtype of disorder,Morphological anomaly subtype,Anterior segment dysgenesis 4,"Iridogoniodysgenesis, type 2|iris hypoplasia with early-onset glaucoma, autosomal dominant|iridogoniodysgenesis syndrome" +GARD:0003030,Orphanet,ORPHA:1509,Disorder,Disease,Coxopodopatellar syndrome,Ischiopatellar dysplasia|SPS|Scott-Taor syndrome|Small patella syndrome +GARD:0003033,Orphanet,ORPHA:472,Disorder,Disease,Isosporiasis,Cystoisosporiasis +GARD:0003045,Orphanet,ORPHA:228349,Subtype of disorder,Etiological subtype,CLN2 disease,Classic late infantile NCL|Classic late infantile neuronal ceroid lipofuscinosis +GARD:0003047,Orphanet,ORPHA:93314,Disorder,Disease,"Spondylometaphyseal dysplasia, Kozlowski type", +GARD:0003048,Orphanet,ORPHA:90647,Disorder,Disease,Jervell and Lange-Nielsen syndrome,Long QT interval-deafness syndrome|Long QT interval-hearing loss syndrome +GARD:0003049,Orphanet,ORPHA:474,Disorder,Malformation syndrome,Jeune syndrome,Asphyxiating thoracic dystrophy of the newborn|JATD|Jeune asphyxiating thoracic dystrophy +GARD:0003051,Orphanet,ORPHA:1112,Disorder,Malformation syndrome,Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome,Johnson-Munson syndrome +GARD:0003053,Orphanet,ORPHA:1485,Disorder,Malformation syndrome,"Arthrogryposis-hyperkeratosis syndrome, lethal form",Johnston-Aarons-Schelley syndrome +GARD:0003054,Orphanet,ORPHA:2295,Disorder,Disease,Familial articular hypermobility syndrome,Familial joint instability syndrome|Familial joint laxity|Joint instability syndrome +GARD:0003056,Orphanet,ORPHA:2027,Disorder,Malformation syndrome,Gingival fibromatosis-progressive deafness syndrome,Gingival fibromatosis-progressive hearing loss syndrome|Jones syndrome +GARD:0003060,Orphanet,ORPHA:2319,Disorder,Malformation syndrome,Juberg-Hayward syndrome,Cleft lip/palate-abnormal thumbs-microcephaly syndrome|Orocraniodigital syndrome +GARD:0003062,Orphanet,ORPHA:2321,Disorder,Malformation syndrome,Jung syndrome, +GARD:0003065,Orphanet,ORPHA:2929,Disorder,Disease,Juvenile polyposis syndrome,JIP|JPS|Juvenile gastrointestinal polyposis|Juvenile intestinal polyposis +GARD:0003066,Orphanet,ORPHA:1573,Disorder,Malformation syndrome,Hypotrichosis with juvenile macular degeneration,HJMD|Hypotrichosis with juvenile macular dystrophy +GARD:0003068,Orphanet,ORPHA:26137,Disorder,Disease,Juvenile temporal arteritis,JTA|Non-giant cell granulomatous temporal arteritis with eosinophilia +GARD:0003070,Orphanet+OMIM,OMIM:147950,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 2 with or without anosmia,Kallmann syndrome 2 +GARD:0003071,Orphanet+OMIM,OMIM:308700,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 1 with or without anosmia,anosmic hypogonadism|dysplasia olfactogenitalis of de morsier|kms|hypogonadotropic hypogonadism and anosmia|Kallmann syndrome 1 +GARD:0003073,Orphanet+OMIM,OMIM:244200,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 3 with or without anosmia, +GARD:0003074,Orphanet,ORPHA:1836,Disorder,Malformation syndrome,"Mesomelic dysplasia, Kantaputra type","Kantaputra mesomelic dysplasia|MDK|Mesomelic dysplasia, Thai type" +GARD:0003075,Orphanet,ORPHA:949,Disorder,Malformation syndrome,Acrocraniofacial dysostosis,Kaplan-Plauchu-Fitch syndrome +GARD:0003077,Orphanet,ORPHA:2122,Disorder,Disease,Kaposiform hemangioendothelioma, +GARD:0003078,Orphanet,ORPHA:2328,Disorder,Malformation syndrome,Kapur-Toriello syndrome,"Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome" +GARD:0003084,Orphanet,ORPHA:2707,Disorder,Malformation syndrome,"Oculocerebrofacial syndrome, Kaufman type", +GARD:0003086,Orphanet,ORPHA:991,Disorder,Malformation syndrome,PAGOD syndrome,Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome +GARD:0003089,Orphanet,ORPHA:2334,Disorder,Disease,Autosomal dominant keratitis,Hereditary keratitis +GARD:0003090,Orphanet,ORPHA:65748,Disorder,Disease,Multiple self-healing squamous epithelioma,"Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type|Ferguson-Smith disease|MSSE|Multiple keratoacanthoma, Ferguson-Smith type|Self-healing squamous epithelioma type 1" +GARD:0003092,Orphanet,ORPHA:494,Disorder,Disease,Keratoderma hereditarium mutilans,Mutilating keratoderma of Vohwinkel|Mutilating keratoderma plus deafness|Mutilating keratoderma plus hearing loss|PPK mutilans and deafness|PPK mutilans and hearing loss|Vohwinkel syndrome +GARD:0003094,Orphanet,ORPHA:2202,Disorder,Disease,Palmoplantar keratoderma-deafness syndrome,PPK-deafness syndrome|Palmoplantar hyperkeratosis-deafness syndrome|Palmoplantar hyperkeratosis-hearing loss syndrome|Palmoplantar keratoderma-hearing loss syndrome +GARD:0003095,Orphanet,ORPHA:2201,Disorder,Disease,Palmoplantar keratoderma-spastic paralysis syndrome,Palmoplantar hyperkeratosis-spastic paralysis syndrome|Powell-Venencie-Gordon syndrome +GARD:0003096,Orphanet,ORPHA:495,Disorder,Disease,Transgrediens et progrediens palmoplantar keratoderma,Greither disease|Keratosis extremitatum hereditaria progrediens|Keratosis palmoplantaris transgrediens et progrediens|Progressive diffuse PPK|Progressive diffuse palmoplantar keratoderma|Transgrediens et progrediens PPK +GARD:0003098,Orphanet,ORPHA:2200,Disorder,Disease,Focal palmoplantar and gingival keratoderma,Focal palmoplantar and gingival hyperkeratosis +GARD:0003099,Orphanet,ORPHA:2339,Disorder,Malformation syndrome,Keratosis follicularis-dwarfism-cerebral atrophy syndrome, +GARD:0003100,Orphanet,ORPHA:678,Disorder,Disease,Papillon-Lefèvre syndrome,Keratosis palmoplantar-periodontopathy syndrome|PLS +GARD:0003102,Orphanet,ORPHA:2198,Disorder,Disease,Palmoplantar keratoderma-esophageal carcinoma syndrome,Bennion-Patterson syndrome|Howell-Evans syndrome|Keratosis palmoplantaris-esophageal carcinoma syndrome|Palmoplantar hyperkeratosis-esophageal carcinoma syndrome|Tylosis-oesophageal carcinoma syndrome +GARD:0003103,Orphanet,ORPHA:79501,Disorder,Disease,Punctate palmoplantar keratoderma type 1,"Buschke-Fischer-Brauer syndrome|Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|PPKP1" +GARD:0003105,Orphanet,ORPHA:28378,Disorder,Disease,Tyrosinemia type 2,Keratosis palmoplantaris-corneal dystrophy syndrome|Oculocutaneous tyrosinemia|Richner-Hanhart syndrome|Tyrosinemia due to TAT deficiency|Tyrosinemia due to tyrosine aminotransferase deficiency|Tyrosinemia type II +GARD:0003109,Orphanet,ORPHA:499,Disorder,Disease,Kerion celsi, +GARD:0003112,Orphanet,ORPHA:98841,Disorder,Disease,Anaplastic large cell lymphoma,ALCL|CD30 positive anaplastic large cell lymphoma|Ki-1 positive anaplastic large cell lymphoma|Primary systemic ALCL|sACL +GARD:0003113,Orphanet,ORPHA:477,Disorder,Disease,KID syndrome,Ichthyosis hystrix Rheydt type|KID/HID syndrome|Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome|Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome|Senter syndrome +GARD:0003117,Orphanet,ORPHA:33543,Disorder,Disease,Kleine-Levin syndrome, +GARD:0003118,Orphanet,ORPHA:2110,Disorder,Malformation syndrome,Hallux varus-preaxial polysyndactyly syndrome,Kleiner-Holmes syndrome +GARD:0003122,Orphanet,ORPHA:2346,Group of disorders,Clinical group,Angioosteohypertrophic syndrome,Klippel-Trénaunay-Weber syndrome +GARD:0003124,Orphanet,ORPHA:2347,Disorder,Malformation syndrome,Lethal Kniest-like dysplasia, +GARD:0003125,Orphanet,ORPHA:2698,Disorder,Disease,Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,Bart-Pumphrey syndrome|Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome|Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome|Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome +GARD:0003126,Orphanet,ORPHA:2348,Disorder,Disease,"Familial partial lipodystrophy, Dunnigan type",Dunnigan syndrome|FPLD2|Familial partial lipodystrophy type 2 +GARD:0003128,Orphanet,ORPHA:1946,Disorder,Malformation syndrome,Amelocerebrohypohidrotic syndrome,Epilepsy-dementia-amelogenesis imperfecta syndrome|Kohlschütter-Tönz syndrome +GARD:0003129,Orphanet,ORPHA:3197,Disorder,Disease,Hereditary hyperekplexia,Congenital stiff man syndrome|Familial startle disease|Hereditary hyperexplexia|Kok disease|Stiff baby syndrome +GARD:0003141,Orphanet,ORPHA:3082,Disorder,Malformation syndrome,Intellectual disability-polydactyly-uncombable hair syndrome,Kozlowski-Krajewska syndrome +GARD:0003150,Orphanet,ORPHA:1149,Disorder,Malformation syndrome,Kuskokwim syndrome,Arthrogryposis-like syndrome|Kuskokwim disease +GARD:0003159,Orphanet,ORPHA:2364,Disorder,Disease,Glycogen storage disease due to lactate dehydrogenase deficiency,GSD due to lactate dehydrogenase deficiency|Glycogenosis due to lactate dehydrogenase deficiency|LDH deficiency +GARD:0003160,Orphanet,ORPHA:284426,Subtype of disorder,Clinical subtype,Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,GSD due to lactate dehydrogenase M-subunit deficiency|Glycogenosis due to lactate dehydrogenase M-subunit deficiency|LDH-M subunit deficiency|Lactate dehydrogenase A deficiency +GARD:0003161,Orphanet,ORPHA:284435,Subtype of disorder,Clinical subtype,Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,GSD due to lactate dehydrogenase H-subunit deficiency|Glycogenosis due to lactate dehydrogenase H-subunit deficiency|LDH-H subunit deficiency|Lactate dehydrogenase B deficiency +GARD:0003163,Orphanet,ORPHA:17,Disorder,Disease,Fatal infantile lactic acidosis with methylmalonic aciduria, +GARD:0003169,Orphanet,ORPHA:1296,Disorder,Malformation syndrome,Lambert syndrome,Branchial dysplasia-intellectual disability-inguinal hernia syndrome +GARD:0003170,Orphanet+OMIM,OMIM:242300,Subtype of disorder,Disease subtype,"Ichthyosis, congenital, autosomal recessive 1","lamellar exfoliation of newborn|collodion fetus|Ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution|ichthyosis congenita ii|collodion baby, self-healing|ichthyosis congenita|desquamation of newborn|ichthyosis, lamellar, 1, formerly" +GARD:0003178,Orphanet,ORPHA:544,Group of disorders,Clinical group,Diffuse large B-cell lymphoma,DLBCL +GARD:0003181,Orphanet,ORPHA:2371,Disorder,Malformation syndrome,Lethal Larsen-like syndrome, +GARD:0003188,Orphanet,ORPHA:2004,Disorder,Morphological anomaly,Laryngotracheoesophageal cleft,LC|LTEC|Laryngo-tracheo-esophageal cleft|Laryngo-tracheo-esophageal diastema +GARD:0003191,Orphanet,ORPHA:2372,Disorder,Malformation syndrome,Laryngocele, +GARD:0003194,Orphanet,ORPHA:1202,Disorder,Malformation syndrome,Larynx atresia, +GARD:0003195,Orphanet,ORPHA:505,Disorder,Disease,Graham Little-Piccardi-Lassueur syndrome,Graham Little syndrome|Piccardi-Lassueur-Little syndrome +GARD:0003196,Orphanet+OMIM,OMIM:180020,Subtype of disorder,Disease subtype,Retinal cone dystrophy 1, +GARD:0003203,Orphanet,ORPHA:2379,Disorder,Disease,Early-onset parkinsonism-intellectual disability syndrome,Laxova-Opitz syndrome|Waisman syndrome +GARD:0003212,Orphanet,ORPHA:1297,Disorder,Malformation syndrome,Branchio-oculo-facial syndrome,BOFS +GARD:0003223,Orphanet,ORPHA:2658,Disorder,Malformation syndrome,Lenz-Majewski hyperostotic dwarfism, +GARD:0003224,Orphanet,ORPHA:240,Disorder,Malformation syndrome,Léri-Weill dyschondrosteosis,Léri-Weill syndrome +GARD:0003227,Orphanet,ORPHA:1486,Disorder,Malformation syndrome,Lethal congenital contracture syndrome type 1,"Herva disease|LCCS1|Multiple contracture syndrome, Finnish type" +GARD:0003228,Orphanet,ORPHA:511,Disorder,Disease,Maple syrup urine disease,BCKD deficiency|BCKDH deficiency|Branched-chain 2-ketoacid dehydrogenase deficiency|Branched-chain ketoaciduria|MSUD +GARD:0003230,Orphanet,ORPHA:512,Disorder,Disease,Metachromatic leukodystrophy,Arylsulfatase A deficiency|MLD +GARD:0003231,Orphanet,ORPHA:99852,Disorder,Disease,Ravine syndrome,Progressive encephalopathy with severe infantile anorexia|Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome +GARD:0003232,Orphanet,ORPHA:2386,Disorder,Disease,Leukoencephalopathy-palmoplantar keratoderma syndrome, +GARD:0003236,Orphanet,ORPHA:2743,Disorder,Malformation syndrome,Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,Levic-Stefanovic-Nikolic syndrome +GARD:0003242,Orphanet,ORPHA:1300,Disorder,Malformation syndrome,Autosomal dominant popliteal pterygium syndrome,Facio-genito-popliteal syndrome|Popliteal web syndrome +GARD:0003244,Orphanet,ORPHA:755,Disorder,Disease,Leydig cell hypoplasia,"46,XY DSD due to LH resistance or LHB deficiency|46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|46,XY disorder of sex development due to LH resistance or LHB deficiency|46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" +GARD:0003247,Orphanet,ORPHA:525,Disorder,Disease,Lichen planopilaris,Follicular lichen planus|LPP|Lichen follicularis|Lichen planus follicularis +GARD:0003248,Orphanet,ORPHA:2390,Disorder,Disease,Lichtenstein syndrome, +GARD:0003251,Orphanet,ORPHA:2369,Disorder,Malformation syndrome,Limb body wall complex,Body stalk anomaly|LBWC syndrome +GARD:0003252,Orphanet,ORPHA:1307,Disorder,Malformation syndrome,Distal limb deficiencies-micrognathia syndrome,10q24 microduplication syndrome|Buttiens-Fryns syndrome +GARD:0003259,Orphanet,ORPHA:2611,Disorder,Disease,Linear verrucous nevus syndrome,Linear hamartoma syndrome +GARD:0003262,Orphanet,ORPHA:165,Group of disorders,Clinical group,Neutral lipid storage disease,Lipidosis with triglyceride storage disease +GARD:0003263,Orphanet,ORPHA:2394,Subtype of disorder,Clinical subtype,Pyruvate dehydrogenase E3 deficiency,DLD deficiency|Dihydrolipoamide dehydrogenase deficiency|E3-deficient maple syrup urine disease +GARD:0003268,Orphanet,ORPHA:530,Disorder,Malformation syndrome,Lipoid proteinosis,Hyalinosis cutis et mucosae|Urbach-Wiethe disease +GARD:0003277,Orphanet,ORPHA:51577,Group of disorders,Clinical group,Cobblestone lissencephaly,Lissencephaly type 2 +GARD:0003283,Orphanet,ORPHA:2404,Disorder,Disease,Loiasis, +GARD:0003284,Orphanet,ORPHA:101016,Disorder,Disease,Romano-Ward syndrome,Romano-Ward long QT syndrome +GARD:0003285,Orphanet+OMIM,OMIM:613688,Subtype of disorder,Disease subtype,Long qt syndrome 2, +GARD:0003286,Orphanet+OMIM,OMIM:603830,Subtype of disorder,Disease subtype,Long qt syndrome 3, +GARD:0003287,Orphanet,ORPHA:168,Disorder,Disease,Loose anagen syndrome, +GARD:0003295,Orphanet,ORPHA:534,Disorder,Malformation syndrome,Oculocerebrorenal syndrome of Lowe,"Lowe disease|Lowe oculo-cerebro-renal dystrophy|Lowe oculo-cerebro-renal syndrome|Lowe oculocerebrorenal dystrophy|Lowe syndrome|OCRL|Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency" +GARD:0003300,Orphanet,ORPHA:2409,Disorder,Malformation syndrome,Lowry-MacLean syndrome, +GARD:0003303,Orphanet,ORPHA:2575,Disorder,Disease,Cystic fibrosis-gastritis-megaloblastic anemia syndrome,Lubani-Al Saleh-Teebi syndrome +GARD:0003307,Orphanet,ORPHA:776,Disorder,Malformation syndrome,Lujan-Fryns syndrome,X-linked intellectual disability with marfanoid habitus +GARD:0003314,Orphanet,ORPHA:1173,Disorder,Disease,Cerebellar ataxia-hypogonadism syndrome,Gordon-Holmes syndrome|Luteinizing hormone-releasing hormone deficiency with ataxia +GARD:0003318,Orphanet,ORPHA:2136,Disorder,Malformation syndrome,Hennekam syndrome,Lymphedema-lymphangiectasia-intellectual disability syndrome +GARD:0003319,Orphanet,ORPHA:538,Disorder,Disease,Lymphangioleiomyomatosis,LAM +GARD:0003321,Orphanet,ORPHA:2035,Disorder,Disease,Lymphatic filariasis, +GARD:0003324,Orphanet,ORPHA:90186,Disorder,Disease,Meige disease,Hereditary lymphedema type II|Meige lymphedema +GARD:0003328,Orphanet+OMIM,OMIM:153100,Subtype of disorder,Disease subtype,Lymphatic malformation 1,"lymphedema, hereditary, type i, formerly|Nonne-milroy lymphedema|primary congenital lymphedema|lymphedema, hereditary, ia, formerly|lymphedema, early-onset|milroy disease" +GARD:0003335,Orphanet,ORPHA:470,Disorder,Disease,Lysinuric protein intolerance,Hyperdibasic aminoaciduria|LPI +GARD:0003342,Orphanet,ORPHA:156207,Group of disorders,Category,Macroglossia, +GARD:0003343,Orphanet,ORPHA:116,Disorder,Malformation syndrome,Beckwith-Wiedemann syndrome,BWS|Exomphalos-macroglossia-gigantism syndrome|Wiedemann-Beckwith syndrome +GARD:0003347,Orphanet,ORPHA:2435,Disorder,Disease,Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome,Westerhof-Beemer-Cormane syndrome +GARD:0003348,Orphanet,ORPHA:2728,Disorder,Malformation syndrome,"Blepharophimosis-intellectual disability syndrome, Ohdo type","BMRS, Ohdo type|Blepharophimosis syndrome, Ohdo type|Ohdo syndrome|Ohdo-Madokoro-Sonoda syndrome" +GARD:0003350,Orphanet,ORPHA:34528,Disorder,Disease,Autosomal dominant primary hypomagnesemia with hypocalciuria,HOMG2|Isolated autosomal dominant hypomagnesemia|Isolated renal magnesium wasting|Renal hypomagnesemia type 2 +GARD:0003361,Orphanet,ORPHA:2215,Disorder,Malformation syndrome,Multiple pterygium-malignant hyperthermia syndrome,Froster-Iskenius-Waterson-Hall syndrome|Malignant hyperthermia-arthrogryposis-torticollis syndrome +GARD:0003363,Orphanet+OMIM,OMIM:145600,Subtype of disorder,Disease subtype,"Malignant hyperthermia, susceptibility to, 1","hyperthermia of anesthesia|hyperpyrexia, malignant|Mhs" +GARD:0003364,Orphanet+OMIM,OMIM:154275,Subtype of disorder,Disease subtype,"Malignant hyperthermia, susceptibility to, 2", +GARD:0003365,Orphanet+OMIM,OMIM:154276,Subtype of disorder,Disease subtype,"Malignant hyperthermia, susceptibility to, 3", +GARD:0003366,Orphanet+OMIM,OMIM:600467,Subtype of disorder,Disease subtype,"Malignant hyperthermia, susceptibility to, 4", +GARD:0003367,Orphanet+OMIM,OMIM:601887,Subtype of disorder,Disease subtype,"Malignant hyperthermia, susceptibility to, 5", +GARD:0003368,Orphanet+OMIM,OMIM:601888,Subtype of disorder,Disease subtype,"Malignant hyperthermia, susceptibility to, 6", +GARD:0003371,Orphanet,ORPHA:943,Disorder,Disease,Malonic aciduria,Malonyl-CoA decarboxylase deficiency +GARD:0003373,Orphanet,ORPHA:2229,Disorder,Malformation syndrome,Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Cardiogenital syndrome|Malouf syndrome|Najjar syndrome +GARD:0003374,Orphanet,ORPHA:90153,Subtype of disorder,Clinical subtype,Mandibuloacral dysplasia with type A lipodystrophy, +GARD:0003378,Orphanet,ORPHA:1120,Disorder,Malformation syndrome,Lung agenesis-heart defect-thumb anomalies syndrome,Mardini-Nyhan syndrome +GARD:0003382,Orphanet,ORPHA:2460,Disorder,Malformation syndrome,Van den Ende-Gupta syndrome,Marden-Walker-like syndrome|VDEGS +GARD:0003388,Orphanet,ORPHA:2463,Disorder,Malformation syndrome,Marfanoid habitus-autosomal recessive intellectual disability syndrome,Fragoso-Cantú syndrome +GARD:0003390,Orphanet,ORPHA:444,Disorder,Disease,Marie Unna hereditary hypotrichosis,"Hypotrichosis, Marie Unna type|MUHH|Marie Unna congenital hypotrichosis" +GARD:0003395,Orphanet,ORPHA:2717,Disorder,Malformation syndrome,Oculotrichoanal syndrome,MOTA syndrome|Manitoba oculotrichoanal syndrome|Marles syndrome|Marles-Greenberg-Persaud syndrome +GARD:0003396,Orphanet,ORPHA:2763,Disorder,Malformation syndrome,Osteocraniostenosis,Gracile bone dysplasia|Osteocraniosplenic syndrome +GARD:0003399,Orphanet,ORPHA:1423,Disorder,Malformation syndrome,Lethal recessive chondrodysplasia,Maroteaux-Stanescu-Cousin syndrome +GARD:0003401,Orphanet,ORPHA:2464,Disorder,Malformation syndrome,"Marfanoid syndrome, De Silva type", +GARD:0003406,Orphanet,ORPHA:1387,Disorder,Malformation syndrome,Cataract-intellectual disability-hypogonadism syndrome,Martsolf syndrome +GARD:0003409,Orphanet,ORPHA:2135,Disorder,Malformation syndrome,Hennekam-Beemer syndrome,Mastocytosis-short stature-deafness syndrome|Mastocytosis-short stature-hearing loss syndrome +GARD:0003413,Orphanet,ORPHA:2209,Disorder,Malformation syndrome,Maternal phenylketonuria,Hyperphenylalaninemic embryopathy|Maternal PKU|Maternal hyperphenylalaninemia|Phenylketonuric embryopathy +GARD:0003418,Orphanet+OMIM,OMIM:125850,Subtype of disorder,Disease subtype,"Maturity-onset diabetes of the young, type 1","Mody, type 1|mild juvenile diabetes mellitus" +GARD:0003424,Orphanet,ORPHA:2471,Disorder,Malformation syndrome,McDonough syndrome, +GARD:0003426,Orphanet,ORPHA:168624,Disorder,Malformation syndrome,"Familial scaphocephaly syndrome, McGillivray type",Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome +GARD:0003427,Orphanet,ORPHA:2473,Disorder,Malformation syndrome,McKusick-Kaufman syndrome,Hydrometrocolpos-postaxial polydactyly syndrome|Kaufman-Mckusick syndrome +GARD:0003430,Orphanet,ORPHA:2001,Disorder,Malformation syndrome,Cleft lip/palate-intestinal malrotation-cardiopathy syndrome,McPherson-Clemens syndrome +GARD:0003432,Orphanet,ORPHA:3097,Disorder,Malformation syndrome,Meacham syndrome,Meacham-Winn-Culler syndrome|Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome +GARD:0003436,Orphanet,ORPHA:564,Disorder,Malformation syndrome,Meckel syndrome,Dysencephalia splanchnocystica|Meckel-Gruber syndrome +GARD:0003438,Orphanet,ORPHA:2476,Disorder,Malformation syndrome,Dysraphism-cleft lip/palate-limb reduction defects syndrome,Medeira-Dennis-Donnai syndrome +GARD:0003439,Orphanet,ORPHA:1993,Disorder,Malformation syndrome,Pai syndrome,Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome +GARD:0003440,Orphanet,ORPHA:2699,Disorder,Malformation syndrome,Median nodule of the upper lip, +GARD:0003442,Orphanet,ORPHA:2241,Disorder,Malformation syndrome,Megacystis-microcolon-intestinal hypoperistalsis syndrome,Berdon syndrome|MMIHS|Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome +GARD:0003443,Orphanet,ORPHA:2604,Disorder,Disease,Familial visceral myopathy,Familial hollow visceral myopathy|Hereditary hollow visceral myopathy|Megaduodenum and/or megacystis +GARD:0003445,Orphanet,ORPHA:2478,Disorder,Disease,Megalencephalic leukoencephalopathy with subcortical cysts,MLC|Megalencephalic leukodystrophy|Megalencephaly-cystic leukodystrophy syndrome|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|Van der Knaap syndrome +GARD:0003448,Orphanet,ORPHA:2479,Disorder,Malformation syndrome,Megalocornea-intellectual disability syndrome,MMR syndrome|Neuhäuser syndrome +GARD:0003449,Orphanet,ORPHA:3038,Disorder,Malformation syndrome,Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome,Mehes syndrome +GARD:0003451,Orphanet,ORPHA:2196,Subtype of disorder,Clinical subtype,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,FHHNC with severe ocular involvement|Hypercalciuria-bilateral macular coloboma syndrome|Meier-Blumberg-Imahorn syndrome +GARD:0003460,Orphanet,ORPHA:618,Disorder,Disease,Familial melanoma, +GARD:0003462,Orphanet,ORPHA:2482,Disorder,Malformation syndrome,Melhem-Fahl syndrome, +GARD:0003475,Orphanet,ORPHA:93969,Disorder,Morphological anomaly,Myelomeningocele, +GARD:0003480,Orphanet,ORPHA:66625,Disorder,Malformation syndrome,Cerebrooculonasal syndrome, +GARD:0003482,Orphanet,ORPHA:1236,Disorder,Malformation syndrome,Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome, +GARD:0003485,Orphanet,ORPHA:3079,Disorder,Malformation syndrome,"Intellectual disability, Buenos-Aires type",Mutchinick syndrome +GARD:0003491,Orphanet,ORPHA:2139,Disorder,Malformation syndrome,Hernández-Aguirre Negrete syndrome,Intellectual disability-epilepsy-bulbous nose syndrome +GARD:0003505,Orphanet,ORPHA:404473,Disorder,Malformation syndrome,Severe intellectual disability-progressive spastic diplegia syndrome,CTNNB1 syndrome +GARD:0003506,Orphanet,ORPHA:3077,Disorder,Malformation syndrome,X-linked intellectual disability-psychosis-macroorchidism syndrome,Lindsay-Burn syndrome|PPM-X +GARD:0003514,Orphanet,ORPHA:3074,Disorder,Malformation syndrome,Intellectual disability-short stature-hypertelorism syndrome,Stoll-Géraudel-Chauvin syndrome +GARD:0003519,Orphanet,ORPHA:1240,Disorder,Disease,Metaphyseal acroscyphodysplasia,Bellini syndrome|Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome +GARD:0003520,Orphanet,ORPHA:1436,Disorder,Malformation syndrome,X-linked skeletal dysplasia-intellectual disability syndrome,Christian syndrome +GARD:0003521,Orphanet+OMIM,OMIM:309580,Subtype of disorder,Malformation syndrome subtype,"Intellectual disability-hypotonic facies syndrome, x-linked, 1","xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|smith-fineman-myers syndrome 1|sfms|holmes-gang syndrome|Mental retardation-hypotonic facies syndrome, x-linked, 1|chudley-lowry syndrome" +GARD:0003523,Orphanet,ORPHA:1891,Disorder,Malformation syndrome,Intellectual disability-spasticity-ectrodactyly syndrome,Jancar syndrome +GARD:0003524,Orphanet,ORPHA:2557,Disorder,Malformation syndrome,Mietens syndrome,"Intellectual disability, Mietens-Weber type" +GARD:0003530,Orphanet,ORPHA:3080,Disorder,Malformation syndrome,"Intellectual disability, Wolff type",Wolff-Zimmermann syndrome +GARD:0003531,Orphanet,ORPHA:3057,Disorder,Disease,Monoamine oxidase A deficiency,Brunner syndrome +GARD:0003537,Orphanet,ORPHA:1193,Disorder,Malformation syndrome,Atkin-Flaitz syndrome,"X-linked intellectual disability, Atkin type" +GARD:0003552,Orphanet,ORPHA:2631,Disorder,Malformation syndrome,Mesomelic dwarfism-cleft palate-camptodactyly syndrome,"Mesomelic dysplasia, Kozlowski-Reardon type|Mesomelic dysplasia, Reardon type|Reardon-Hall-Slaney syndrome" +GARD:0003553,Orphanet,ORPHA:2632,Disorder,Malformation syndrome,Langer mesomelic dysplasia,"Mesomelic dwarfism, Langer type" +GARD:0003554,Orphanet,ORPHA:2633,Disorder,Malformation syndrome,"Mesomelic dysplasia, Nievergelt type","Mesomelic dwarfism, Nievergelt type|Nievergelt syndrome" +GARD:0003555,Orphanet,ORPHA:2634,Disorder,Malformation syndrome,"Mesomelic dwarfism, Reinhardt-Pfeiffer type",Reinhardt-Pfeiffer mesomelic dysplasia|Reinhardt-Pfeiffer syndrome +GARD:0003559,Orphanet,ORPHA:2498,Disorder,Morphological anomaly,Syndactyly type 8,Fusion of metacarpals 4 and 5 +GARD:0003560,Orphanet,ORPHA:2499,Disorder,Malformation syndrome,Metachondromatosis, +GARD:0003562,Orphanet,ORPHA:1040,Disorder,Disease,Metaphyseal anadysplasia,Maroteaux-Verloes-Stanescu syndrome|Regressive metaphyseal dysplasia +GARD:0003563,Orphanet,ORPHA:2501,Disorder,Disease,"Metaphyseal chondrodysplasia, Spahr type", +GARD:0003566,Orphanet,ORPHA:2502,Disorder,Malformation syndrome,Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome +GARD:0003568,Orphanet,ORPHA:2504,Disorder,Malformation syndrome,Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, +GARD:0003571,Orphanet,ORPHA:2635,Disorder,Disease,Metatropic dysplasia,Metatropic dwarfism +GARD:0003573,Orphanet,ORPHA:1923,Disorder,Malformation syndrome,Methimazole embryofetopathy,MMI/CMZ embryofetopathy|MMI/CMZ embryopathy|Methimazole/carbimazole embryofetopathy|Methimazole/carbimazole embryopathy +GARD:0003575,Orphanet,ORPHA:1917,Disorder,Malformation syndrome,Fetal methylmercury syndrome,Methyl mercury antenatal infection|Minamata disease +GARD:0003576,Orphanet,ORPHA:2169,Subtype of disorder,Clinical subtype,Methylcobalamin deficiency type cblE,Functional methionine synthase deficiency type cblE +GARD:0003577,Orphanet,ORPHA:2170,Subtype of disorder,Clinical subtype,Methylcobalamin deficiency type cblG,Functional methionine synthase deficiency type cblG +GARD:0003579,Orphanet,ORPHA:26,Disorder,Disease,Methylmalonic acidemia with homocystinuria,Combined defect in adenosylcobalamin and methylcobalamin synthesis|Methylmalonic aciduria with homocystinuria +GARD:0003582,Orphanet,ORPHA:79283,Subtype of disorder,Clinical subtype,"Methylmalonic acidemia with homocystinuria, type cblD","CblD defect|Cobalamin D defect|Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD|Methylmalonic aciduria with homocystinuria, type cblD" +GARD:0003584,Orphanet,ORPHA:79284,Subtype of disorder,Clinical subtype,Methylmalonic acidemia with homocystinuria type cblF,"CblF defect|Cobalamin F defect|Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF|Lysosomal membrane cobalamin transporter deficiency|Methylmalonic aciduria with homocystinuria, type cblF" +GARD:0003586,Orphanet,ORPHA:27,Disorder,Disease,Vitamin B12-unresponsive methylmalonic acidemia,Methylmalonyl-CoA mutase deficiency|Methylmalonyl-Coenzyme A mutase deficiency|Vitamin B12-unresponsive methylmalonic aciduria +GARD:0003588,Orphanet,ORPHA:29,Subtype of disorder,Clinical subtype,Mevalonic aciduria,Complete mevalonate kinase deficiency|MVA +GARD:0003589,Orphanet,ORPHA:2505,Disorder,Disease,Multiple benign circumferential skin creases on limbs,"CCSF|Circumferential skin creases, Kunze type|Congenital circumferential skin folds|Kunze-Riehm syndrome" +GARD:0003596,Orphanet,ORPHA:2511,Disorder,Malformation syndrome,Microbrachycephaly-ptosis-cleft lip syndrome,Richieri Costa-Guion Almeida-Ramos syndrome +GARD:0003602,Orphanet,ORPHA:2643,Disorder,Malformation syndrome,"Microcephalic primordial dwarfism, Toriello type", +GARD:0003603,Orphanet,ORPHA:199642,Disorder,Malformation syndrome,Isolated congenital microcephaly, +GARD:0003604,Orphanet,ORPHA:2513,Disorder,Malformation syndrome,Microcephaly-albinism-digital anomalies syndrome,Castro Gago-Pombo-Novo syndrome +GARD:0003605,Orphanet,ORPHA:2514,Subtype of disorder,Etiological subtype,Autosomal dominant primary microcephaly, +GARD:0003607,Orphanet,ORPHA:2523,Disorder,Malformation syndrome,Microcephaly-brain defect-spasticity-hypernatremia syndrome,Franek-Bocker-Kahlen syndrome +GARD:0003609,Orphanet,ORPHA:2515,Disorder,Malformation syndrome,Microcephaly-cardiomyopathy syndrome,Winship-Viljoen-Leary syndrome +GARD:0003610,Orphanet,ORPHA:2522,Disorder,Malformation syndrome,Microcephaly-cervical spine fusion anomalies syndrome, +GARD:0003615,Orphanet,ORPHA:2172,Disorder,Malformation syndrome,Microcephaly-glomerulonephritis-marfanoid habitus syndrome, +GARD:0003617,Orphanet,ORPHA:2558,Disorder,Malformation syndrome,Mikati-Najjar-Sahli syndrome,Microcephaly-hypergonadotropic hypogonadism-short stature syndrome +GARD:0003622,Orphanet,ORPHA:2526,Disorder,Malformation syndrome,Microcephaly-lymphedema-chorioretinopathy syndrome,MLCRD +GARD:0003627,Orphanet,ORPHA:2528,Disorder,Malformation syndrome,"Microcephaly-microcornea syndrome, Seemanova type",Seemanova-Lesny syndrome +GARD:0003635,Orphanet,ORPHA:566,Disorder,Malformation syndrome,Congenital microcoria,Congenital miosis +GARD:0003637,Orphanet,ORPHA:2536,Disorder,Malformation syndrome,Microcornea-glaucoma-absent frontal sinuses syndrome, +GARD:0003640,Orphanet,ORPHA:2538,Disorder,Malformation syndrome,Microgastria-limb reduction defect syndrome, +GARD:0003643,Orphanet,ORPHA:93328,Subtype of disorder,Clinical subtype,Autosomal dominant omodysplasia, +GARD:0003644,Orphanet,ORPHA:98938,Disorder,Malformation syndrome,Colobomatous microphthalmia,MAC|Microphthalmia with colobomatous cyst|Microphthalmia-anophthalmia-coloboma syndrome +GARD:0003645,Orphanet,ORPHA:139471,Disorder,Malformation syndrome,Microphthalmia with brain and digit anomalies,Bakrania-Ragge syndrome|MCOPS6|Syndromic microphthalmia type 6 +GARD:0003650,Orphanet,ORPHA:2547,Disorder,Malformation syndrome,Microphthalmia-microtia-fetal akinesia syndrome,Thomas-Jewett-Raines syndrome +GARD:0003652,Orphanet,ORPHA:727,Disorder,Disease,Microscopic polyangiitis,MPA|Micropolyangiitis|Microscopic polyarteritis +GARD:0003653,Orphanet,ORPHA:2549,Disorder,Malformation syndrome,Oculoauriculovertebral spectrum with radial defects,Hemifacial microsomia-radial defects syndrome|Moeschler-Clarren syndrome +GARD:0003655,Orphanet,ORPHA:2552,Disorder,Disease,Microsporidiosis, +GARD:0003659,Orphanet,ORPHA:2556,Disorder,Malformation syndrome,Microphthalmia with linear skin defects syndrome,MCOPS7|MIDAS syndrome|MLS syndrome|Microphthalmia-dermal aplasia-sclerocornea syndrome|Syndromic microphthalmia type 7 +GARD:0003668,Orphanet,ORPHA:98919,Disorder,Disease,Miller Fisher syndrome,Cranial variant of GBS|Cranial variant of Guillain-Barré syndrome|Fisher syndrome +GARD:0003669,Orphanet,ORPHA:531,Disorder,Malformation syndrome,Miller-Dieker syndrome,Lissencephaly due to 17p13.3 deletion|Monosomy 17p13.3|Telomeric deletion 17p +GARD:0003671,Orphanet,ORPHA:255210,Disorder,Disease,Mitochondrial DNA-associated Leigh syndrome,MILS|Maternally-inherited Leigh disease|Maternally-inherited infantile subacute necrotizing encephalopathy|mtDNA-associated Leigh syndrome +GARD:0003672,Orphanet,ORPHA:90031,Disorder,Disease,Non-spherocytic hemolytic anemia due to hexokinase deficiency, +GARD:0003681,Orphanet,ORPHA:1933,Disorder,Disease,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria","Booth-Haworth-Dilling syndrome|Mitochondrial encephalomyopathy-aminoacidopathy syndrome|mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" +GARD:0003682,Orphanet,ORPHA:2597,Disorder,Disease,Mitochondrial myopathy-lactic acidosis-deafness syndrome,Mitochondrial myopathy-lactic acidosis-hearing loss syndrome +GARD:0003684,Orphanet,ORPHA:746,Disorder,Disease,Mitochondrial trifunctional protein deficiency,TFP deficiency|TFPD +GARD:0003685,Orphanet,ORPHA:1205,Disorder,Morphological anomaly,Mitral atresia, +GARD:0003687,Orphanet,ORPHA:741,Disorder,Morphological anomaly,Familial mitral valve prolapse, +GARD:0003688,Orphanet+OMIM,OMIM:157700,Subtype of disorder,Morphological anomaly subtype,Mitral valve prolapse 1, +GARD:0003690,Orphanet,ORPHA:1879,Disorder,Malformation syndrome,Melorheostosis with osteopoikilosis,MSBD syndrome|Mixed sclerosing bone dystrophy +GARD:0003692,Orphanet,ORPHA:178364,Disorder,Malformation syndrome,Syndromic microphthalmia type 5,MCOPS5|Syndromic microphthalmia/anophthalmia due to OTX2 mutation +GARD:0003693,Orphanet,ORPHA:3434,Disorder,Malformation syndrome,MMEP syndrome,MCOPS8|Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome|Syndromic microphthalmia type 8|Viljoen-Smart syndrome +GARD:0003697,Orphanet,ORPHA:552,Disorder,Disease,MODY,Maturity-onset diabetes of the young +GARD:0003698,Orphanet,ORPHA:2560,Disorder,Malformation syndrome,Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome, +GARD:0003699,Orphanet,ORPHA:2059,Disorder,Malformation syndrome,Fryns syndrome,Diaphragmatic hernia-abnormal face-distal limb anomalies syndrome +GARD:0003701,Orphanet,ORPHA:2751,Disorder,Malformation syndrome,Orofaciodigital syndrome type 2,Mohr syndrome|OFD2|Oral-facial-digital syndrome type 2 +GARD:0003704,Orphanet,ORPHA:1433,Disorder,Malformation syndrome,Choroidal atrophy-alopecia syndrome,Moloney syndrome|Regional choroidal atrophy and alopecia +GARD:0003705,Orphanet,ORPHA:99732,Subtype of disorder,Clinical subtype,Sulfite oxidase deficiency due to molybdenum cofactor deficiency,"Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase|MOCOD" +GARD:0003707,Orphanet,ORPHA:2564,Disorder,Malformation syndrome,Tetramelic monodactyly,Sommer-Hines syndrome +GARD:0003711,Orphanet,ORPHA:96148,Disorder,Malformation syndrome,Distal monosomy 10q,Distal deletion 10q|Monosomy 10qter|Telomeric deletion 10q +GARD:0003738,Orphanet,ORPHA:250999,Disorder,Malformation syndrome,1q41q42 microdeletion syndrome,Del(1)(q41q42)|Monosomy 1q41q42 +GARD:0003746,Orphanet,ORPHA:1617,Disorder,Malformation syndrome,2q24 microdeletion syndrome,Del(2)(q24)|Monosomy 2q24 +GARD:0003750,Orphanet,ORPHA:1620,Disorder,Malformation syndrome,Distal monosomy 3p,3p- syndrome|Distal 3p deletion|Monosomy 3pter|Telomeric monosomy 3p +GARD:0003764,Orphanet,ORPHA:251056,Disorder,Malformation syndrome,6q25 microdeletion syndrome,Del(6)(q25)|Monosomy 6q25 +GARD:0003765,Orphanet,ORPHA:495930,Disorder,Disease,Familial monosomy 7 syndrome, +GARD:0003769,Orphanet,ORPHA:251071,Disorder,Malformation syndrome,8p23.1 microdeletion syndrome,Del(8)(p23.1)|Monosomy 8p23.1 +GARD:0003773,Orphanet,ORPHA:261112,Disorder,Malformation syndrome,Monosomy 9p,9p deletion syndrome|9p- syndrome|Alfi syndrome +GARD:0003785,Orphanet,ORPHA:309297,Subtype of disorder,Clinical subtype,Mucopolysaccharidosis type 4A,GALNS deficiency|Galactosamine-6-sulfatase deficiency|MPS4A|MPSIVA|Morquio disease type A|Mucopolysaccharidosis type IVA|N-acetylgalactosamine-6-sulfate sulfatase deficiency +GARD:0003786,Orphanet,ORPHA:309310,Subtype of disorder,Clinical subtype,Mucopolysaccharidosis type 4B,Beta-D-galactosidase deficiency|MPS4B|MPSIVB|Morquio disease type B|Mucopolysaccharidosis type IVB +GARD:0003787,Orphanet,ORPHA:97282,Disorder,Disease,VIPoma,Diarrheogenic islet cell tumor|Pancreatic cholera|VIP-secreting tumor|Verner-Morrison syndrome|WDHA syndrome|Watery diarrhea-hypokalemia-achlorhydria syndrome +GARD:0003788,Orphanet,ORPHA:2570,Disorder,Malformation syndrome,Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,Morse-Rawnsley-Sargent syndrome +GARD:0003791,Orphanet,ORPHA:2400,Disorder,Disease,Peripheral motor neuropathy-dysautonomia syndrome,Lisker-Garcia-Ramos syndrome +GARD:0003793,Orphanet,ORPHA:3347,Disorder,Clinical syndrome,Mounier-Kühn syndrome,Congenital tracheobronchomegaly|Idiopathic tracheobronchomegaly|Tracheobronchomegaly +GARD:0003795,Orphanet,ORPHA:2572,Disorder,Disease,Spastic ataxia-corneal dystrophy syndrome,Bedouin spastic ataxia syndrome|Mousa-Al Din-Al Nassar syndrome|Spastic ataxia-ocular anomalies syndrome +GARD:0003806,Orphanet,ORPHA:577,Disorder,Disease,Mucolipidosis type III,Pseudo-Hurler polydystrophy +GARD:0003807,Orphanet,ORPHA:581,Disorder,Disease,Mucopolysaccharidosis type 3,MPS3|MPSIII|Mucopolysaccharidosis type III|Sanfilippo disease +GARD:0003818,Orphanet,ORPHA:2774,Disorder,Malformation syndrome,Multicentric carpo-tarsal osteolysis with or without nephropathy,Idiopathic multicentric osteolysis with or without nephropathy +GARD:0003824,Orphanet,ORPHA:148,Group of disorders,Clinical group,Multiple carboxylase deficiency,MCD +GARD:0003829,Orphanet,ORPHA:652,Disorder,Disease,Multiple endocrine neoplasia type 1,MEN1|Wermer syndrome +GARD:0003830,Orphanet,ORPHA:653,Disorder,Disease,Multiple endocrine neoplasia type 2,MEN2 +GARD:0003834,Orphanet,ORPHA:33108,Disorder,Malformation syndrome,Lethal multiple pterygium syndrome,Autosomal recessive lethal multiple pterygium syndrome|LMPS +GARD:0003836,Orphanet,ORPHA:3237,Disorder,Malformation syndrome,Multiple synostoses syndrome,Deafness-Hermann type symphalangism syndrome|Facio-audio-symphalangism|Hearing loss-Hermann type symphalangism syndrome|Symphalangism-brachydactyly syndrome|WL syndrome +GARD:0003843,Orphanet,ORPHA:258,Disorder,Malformation syndrome,Laminin subunit alpha 2-related congenital muscular dystrophy,CMD1A|Congenital muscular dystrophy due to laminin alpha2 deficiency|Congenital muscular dystrophy type 1A|MDC1A|Merosin-negative congenital muscular dystrophy +GARD:0003844,Orphanet,ORPHA:1878,Disorder,Disease,TRIM32-related limb-girdle muscular dystrophy R8,Autosomal recessive limb-girdle muscular dystrophy type 2H|LGMD due to TRIM32 deficiency|LGMD type 2H|LGMD2H|Limb-girdle muscular dystrophy due to TRIM32 deficiency|Limb-girdle muscular dystrophy type 2H|Sarcotubular myopathy|TRIM32-related LGMD R8 +GARD:0003851,Orphanet,ORPHA:119,Disorder,Disease,Beta-sarcoglycan-related limb-girdle muscular dystrophy R4,Autosomal recessive limb-girdle muscular dystrophy type 2E|Beta-sarcoglycan-related LGMD R4|Beta-sarcoglycanopathy|LGMD due to beta-sarcoglycan deficiency|LGMD type 2E|LGMD2E|Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|Limb-girdle muscular dystrophy type 2E +GARD:0003856,Orphanet,ORPHA:64755,Disorder,Disease,Becker nevus syndrome,Pigmentary hairy epidermal nevus +GARD:0003858,Orphanet,ORPHA:715,Disorder,Disease,Glycogen storage disease due to muscle phosphorylase kinase deficiency,GSD due to muscle phosphorylase kinase deficiency|GSD type 9D|GSD type 9E|GSD type IXd|GSD type IXe|Glycogen storage disease type 9D|Glycogen storage disease type 9E|Glycogen storage disease type IXd|Glycogen storage disease type IXe|Glycogenosis due to muscle phosphorylase kinase deficiency|Glycogenosis type 9D|Glycogenosis type 9E|Glycogenosis type IXd|Glycogenosis type IXe +GARD:0003862,Orphanet,ORPHA:2583,Disorder,Disease,Mycetoma,Madura foot +GARD:0003863,Orphanet,ORPHA:2584,Disorder,Disease,Classic mycosis fungoides,"Mycosis fungoides, Alibert-Bazin type" +GARD:0003865,Orphanet,ORPHA:2585,Disorder,Malformation syndrome,Ataxia-pancytopenia syndrome,Myelocerebellar disorder +GARD:0003868,Orphanet,ORPHA:2587,Disorder,Disease,Myeloperoxidase deficiency,MPO deficiency +GARD:0003872,Orphanet,ORPHA:280620,Disorder,Disease,Progressive myoclonic epilepsy type 6,EPM6|GOSR2-related progressive myoclonus ataxia|North Sea progressive myoclonus epilepsy|PME type 6|Progressive myoclonus epilepsy type 6 +GARD:0003873,Orphanet,ORPHA:2589,Disorder,Malformation syndrome,Myoclonus-cerebellar ataxia-deafness syndrome,Myoclonus-cerebellar ataxia-hearing loss syndrome +GARD:0003875,Orphanet,ORPHA:2590,Disorder,Disease,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,Hereditary myoclonus-progressive distal muscular atrophy syndrome|Jankovic-Rivera syndrome|SMA-PME +GARD:0003876,Orphanet,ORPHA:308,Disorder,Malformation syndrome,Progressive myoclonic epilepsy type 1,EPM1|Progressive myoclonus epilepsy type 1|ULD|Unverricht-Lundborg disease +GARD:0003879,Orphanet+OMIM,OMIM:550500,Subtype of disorder,Disease subtype,"Myoglobinuria, recurrent", +GARD:0003881,Orphanet,ORPHA:2596,Disorder,Disease,Myopathy and diabetes mellitus, +GARD:0003884,Orphanet,ORPHA:2593,Disorder,Disease,Tubular aggregate myopathy, +GARD:0003885,Orphanet,ORPHA:2598,Disorder,Disease,Mitochondrial myopathy and sideroblastic anemia,"MLASA|Myopathy, lactic acidosis and sideroblastic anemia" +GARD:0003889,Orphanet,ORPHA:1358,Disorder,Malformation syndrome,Carey-Fineman-Ziter syndrome,Myopathy-Moebius-Robin syndrome +GARD:0003892,Orphanet,ORPHA:25980,Disorder,Disease,X-linked myopathy with excessive autophagy,XMEA +GARD:0003896,Orphanet,ORPHA:611,Disorder,Disease,Inclusion body myositis,IBM|Sporadic inclusion body myositis|sIBM +GARD:0003902,Orphanet,ORPHA:2608,Disorder,Malformation syndrome,N syndrome, +GARD:0003903,Orphanet,ORPHA:79281,Subtype of disorder,Clinical subtype,Alpha-N-acetylgalactosaminidase deficiency type 3,NAGA deficiency type 3|Schindler disease type 3 +GARD:0003904,Orphanet,ORPHA:647,Disorder,Malformation syndrome,Nijmegen breakage syndrome,"AT V1|Ataxia-telangiectasia, variant 1|Berlin breakage syndrome|Immunodeficiency-microcephaly-chromosomal instability syndrome|Microcephaly-immunodeficiency-lymphoid malignancy syndrome|NBS|Seemanova syndrome type 2" +GARD:0003908,Orphanet,ORPHA:2609,Disorder,Disease,Isolated complex I deficiency,Isolated NADH-CoQ reductase deficiency|Isolated NADH-coenzyme Q reductase deficiency|Isolated NADH-ubiquinone reductase deficiency|Isolated mitochondrial respiratory chain complex I deficiency +GARD:0003909,Orphanet+OMIM,OMIM:250700,Subtype of disorder,Disease subtype,Methemoglobin reductase deficiency,tpnh-methemoglobin reductase deficiency|Nadph-dependent methemoglobin reductase deficiency +GARD:0003912,Orphanet,ORPHA:69087,Disorder,Disease,Naegeli-Franceschetti-Jadassohn syndrome,NFJ syndrome|Naegeli syndrome +GARD:0003916,Orphanet+OMIM,OMIM:256040,Subtype of disorder,Disease subtype,Proteasome-associated autoinflammatory syndrome 1,"Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|autoinflammation, lipodystrophy, and dermatosis syndrome|jmp syndrome|nakajo-nishimura syndrome|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy" +GARD:0003919,Orphanet,ORPHA:231671,Subtype of disorder,Clinical subtype,Isolated growth hormone deficiency type IB,Congenital IGHD type IB|Congenital isolated GH deficiency type IB|Congenital isolated growth hormone deficiency type IB +GARD:0003921,Orphanet,ORPHA:231692,Subtype of disorder,Clinical subtype,Isolated growth hormone deficiency type III,Congenital IGHD type III|Congenital isolated GH deficiency type III|Congenital isolated growth hormone deficiency type III|X-linked IGHD|X-linked isolated growth hormone deficiency +GARD:0003924,Orphanet,ORPHA:181393,Group of disorders,Category,Growth hormone insensitivity syndrome,GHIS|Short stature due to a defect in growth hormone receptor or post-receptor pathway +GARD:0003927,Orphanet,ORPHA:2399,Disorder,Malformation syndrome,Nasopalpebral lipoma-coloboma syndrome, +GARD:0003928,Orphanet,ORPHA:99811,Subtype of disorder,Etiological subtype,Neuronal intestinal pseudoobstruction, +GARD:0003929,Orphanet,ORPHA:2663,Disorder,Malformation syndrome,Nathalie syndrome,Deafness-cataract-skeletal anomalies syndrome|Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome +GARD:0003931,Orphanet,ORPHA:85408,Disorder,Disease,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,Juvenile polyarthritis without rheumatoid factor|Juvenile rheumatoid factor-negative polyarthritis|Rheumatoid factor-negative polyarticular JIA +GARD:0003936,Orphanet,ORPHA:2849,Disorder,Malformation syndrome,Perlman syndrome,Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome +GARD:0003940,Orphanet,ORPHA:2668,Disorder,Malformation syndrome,Nephropathy-deafness-hyperparathyroidism syndrome,Edwards-Patton-Dilly syndrome|Nephropathy-hearing loss-hyperparathyroidism syndrome +GARD:0003943,Orphanet,ORPHA:2669,Disorder,Malformation syndrome,Nephrosis-deafness-urinary tract-digital malformations syndrome,Braun-Bayer syndrome|Nephrosis-hearing loss-urinary tract-digital malformations syndrome +GARD:0003946,Orphanet,ORPHA:656,Disorder,Disease,Genetic steroid-resistant nephrotic syndrome,Familial idiopathic steroid-resistant nephrotic syndrome|Genetic SRNS|Hereditary steroid-resistant nephrotic syndrome +GARD:0003947,Orphanet,ORPHA:657,Group of disorders,Clinical group,Congenital isolated hyperinsulinism,PHHI|Persistent hyperinsulinemic hypoglycemia of infancy +GARD:0003948,Orphanet,ORPHA:3350,Disorder,Disease,Tremor-nystagmus-duodenal ulcer syndrome,Neuhauser-Daly-Magnelli syndrome +GARD:0003949,Orphanet,ORPHA:2672,Disorder,Malformation syndrome,Neuhauser-Eichner-Opitz syndrome,Recurrent encephalophathy of childhood +GARD:0003953,Orphanet,ORPHA:351,Disorder,Disease,Galactosialidosis,Goldberg syndrome|Neuraminidase deficiency with beta-galactosidase deficiency +GARD:0003955,Orphanet+OMIM,OMIM:162100,Subtype of disorder,Disease subtype,"Amyotrophy, hereditary neuralgic","brachial plexus neuropathy, hereditary|Neuritis with brachial predilection|amyotrophy, hereditary neuralgic, with predilection for brachial plexus" +GARD:0003956,Orphanet,ORPHA:2388,Disorder,Disease,Choreoacanthocytosis,ChAc|Chorea-acanthocytosis|Levine-Critchley syndrome +GARD:0003957,Orphanet,ORPHA:35069,Disorder,Disease,Infantile neuroaxonal dystrophy,INAD|INAD1|PLAN|Phospholipase A2-associated neurodegeneration|Seitelberger disease +GARD:0003964,Orphanet,ORPHA:2673,Disorder,Malformation syndrome,Neurofaciodigitorenal syndrome,Freire Maia-Pinheiro-Opitz syndrome +GARD:0003967,Orphanet,ORPHA:2678,Disorder,Malformation syndrome,Neurofibromatosis type 6,Familial café-au-lait spots|Multiple café-au-lait spots|Multiple café-au-lait syndrome|NF6 +GARD:0003971,Orphanet,ORPHA:2289,Disorder,Disease,Neuronal intranuclear inclusion disease, +GARD:0003972,Orphanet,ORPHA:255229,Disorder,Disease,Navajo neurohepatopathy,Navajo neuropathy +GARD:0003973,Orphanet,ORPHA:99950,Disorder,Disease,Charcot-Marie-Tooth disease type 4D,"CMT4D|HMSN, Lom type|HMSN-Lom|Hereditary motor and sensory neuropathy, Lom type" +GARD:0003976,Orphanet,ORPHA:970,Disorder,Disease,Hereditary sensory and autonomic neuropathy type 2,Autosomal recessive sensory radicular neuropathy|HSAN2|Hereditary sensory and autonomic neuropathy type II|Neurogenic acroosteolysis +GARD:0003979,Orphanet,ORPHA:98907,Disorder,Disease,Neutral lipid storage disease with ichthyosis,Dorfman-Chanarin disease|NLSDI +GARD:0003981,Orphanet,ORPHA:86788,Disorder,Disease,X-linked severe congenital neutropenia, +GARD:0003982,Orphanet,ORPHA:2690,Disorder,Disease,Neutropenia-monocytopenia-deafness syndrome,Neutropenia-monocytopenia-hearing loss syndrome +GARD:0003986,Orphanet,ORPHA:624,Disorder,Morphological anomaly,Familial multiple nevi flammei,Familial multiple port-wine stains +GARD:0003994,Orphanet,ORPHA:1390,Disorder,Malformation syndrome,Night blindness-skeletal anomalies-dysmorphism syndrome,Hunter-Thompson-Reed syndrome +GARD:0003995,Orphanet,ORPHA:215,Disorder,Disease,Congenital stationary night blindness,Congenital essential nyctalopia +GARD:0003999,Orphanet,ORPHA:1884,Disorder,Disease,Ectopia lentis-chorioretinal dystrophy-myopia syndrome,Noble-Bass-Sherman syndrome +GARD:0004001,Orphanet,ORPHA:2700,Disorder,Disease,Noma,Cancrum oris +GARD:0004003,Orphanet,ORPHA:225,Disorder,Disease,Maternally-inherited diabetes and deafness,MIDD|Maternally-inherited diabetes and hearing loss|Mitochondrial diabetes +GARD:0004010,Orphanet,ORPHA:1947,Disorder,Disease,"Progressive epilepsy-intellectual disability syndrome, Finnish type","CLN8 disease, Northern epilepsy variant|NCL, Northern epilepsy variant|Neuronal ceroid lipofuscinosis, Northern epilepsy variant|Northern epilepsy" +GARD:0004011,Orphanet,ORPHA:79293,Subtype of disorder,Clinical subtype,Familial LCAT deficiency,Complete LCAT deficiency|FLD|Norum disease +GARD:0004014,Orphanet,ORPHA:2703,Disorder,Malformation syndrome,Port-wine nevi-mega cisterna magna-hydrocephalus syndrome,Nova syndrome +GARD:0004017,Orphanet,ORPHA:198,Disorder,Disease,Occipital horn syndrome, +GARD:0004018,Orphanet,ORPHA:268861,Disorder,Morphological anomaly,Primary tethered cord syndrome,Primary tethered spinal cord syndrome +GARD:0004031,Orphanet,ORPHA:398156,Disorder,Malformation syndrome,Oculoauriculofrontonasal syndrome,OAFNS +GARD:0004034,Orphanet,ORPHA:2720,Disorder,Malformation syndrome,"Oculocerebral hypopigmentation syndrome, Preus type", +GARD:0004037,Orphanet,ORPHA:352731,Disorder,Disease,Oculocutaneous albinism type 1,OCA1 +GARD:0004038,Orphanet,ORPHA:79432,Disorder,Disease,Oculocutaneous albinism type 2,OCA2 +GARD:0004039,Orphanet,ORPHA:79433,Disorder,Disease,Oculocutaneous albinism type 3,OCA3|Red oculocutaneous albinism|Rufous oculocutaneous albinism|Xanthous oculocutaneous albinism +GARD:0004046,Orphanet,ORPHA:1794,Disorder,Malformation syndrome,Oculomaxillofacial dysostosis,Richieri-Costa-Gorlin syndrome +GARD:0004047,Orphanet,ORPHA:1154,Disorder,Malformation syndrome,Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,Distal arthrogryposis type 5|Distal arthrogryposis type IIB|Distal arthrogryposis with ophthalmoplegia|Oculomelic amyoplasia +GARD:0004049,Orphanet+OMIM,OMIM:257920,Subtype of disorder,Malformation syndrome subtype,3mc syndrome 1,"michels syndrome, formerly|Oculopalatoskeletal syndrome|craniosynostosis with lid anomalies" +GARD:0004050,Orphanet,ORPHA:2715,Disorder,Malformation syndrome,Severe oculo-renal-cerebellar syndrome,Hunter-Jurenka-Thompson syndrome|ORC syndrome|Oculorenocerebellar syndrome +GARD:0004051,Orphanet,ORPHA:2722,Disorder,Malformation syndrome,Odonto-onycho dysplasia-alopecia syndrome, +GARD:0004053,Orphanet,ORPHA:1811,Disorder,Malformation syndrome,Odontomicronychial dysplasia, +GARD:0004054,Orphanet,ORPHA:2721,Disorder,Disease,Odonto-onycho-dermal dysplasia,OODD +GARD:0004060,Orphanet,ORPHA:2755,Disorder,Malformation syndrome,Orofaciodigital syndrome type 8,"OFD8|Oral-facial-digital syndrome type 8|Oral-facial-digital syndrome, Edwards type|Orofaciodigital syndrome, Edwards type" +GARD:0004061,Orphanet,ORPHA:2756,Disorder,Malformation syndrome,Orofaciodigital syndrome type 10,Figuera syndrome|OFD10|Oral-facial-digital syndrome type 10|Orofaciodigital syndrome with fibular aplasia +GARD:0004062,Orphanet,ORPHA:1186,Disorder,Disease,Infantile-onset spinocerebellar ataxia,IOSCA|Ohaha syndrome|Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome +GARD:0004064,Orphanet,ORPHA:2729,Disorder,Malformation syndrome,Okamoto syndrome, +GARD:0004065,Orphanet,ORPHA:2730,Disorder,Malformation syndrome,Postaxial tetramelic oligodactyly, +GARD:0004066,Orphanet,ORPHA:2260,Disorder,Morphological anomaly,Oligomeganephronia,Oligomeganephronic renal hypoplasia +GARD:0004069,Orphanet,ORPHA:2920,Disorder,Malformation syndrome,Oliver syndrome,Postaxial polydactyly-intellectual disability syndrome +GARD:0004070,Orphanet,ORPHA:2732,Disorder,Malformation syndrome,Olivopontocerebellar atrophy-deafness syndrome,Olivopontocerebellar atrophy-hearing loss syndrome +GARD:0004071,Orphanet,ORPHA:98755,Disorder,Disease,Spinocerebellar ataxia type 1,SCA1 +GARD:0004072,Orphanet,ORPHA:98756,Disorder,Disease,Spinocerebellar ataxia type 2,SCA2 +GARD:0004075,Orphanet,ORPHA:659,Disorder,Disease,Mutilating palmoplantar keratoderma with periorificial keratotic plaques,Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|Olmsted syndrome|Palmoplantar and periorificial keratoderma +GARD:0004076,Orphanet,ORPHA:93329,Subtype of disorder,Clinical subtype,Autosomal recessive omodysplasia,Micromelic dysplasia-dislocation of radius syndrome +GARD:0004079,Orphanet,ORPHA:2736,Disorder,Malformation syndrome,Lethal omphalocele-cleft palate syndrome,Czeizel syndrome +GARD:0004080,Orphanet,ORPHA:93929,Subtype of disorder,Clinical subtype,Cloacal exstrophy,OEIS complex|Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome +GARD:0004081,Orphanet,ORPHA:490,Disorder,Morphological anomaly,Omphalomesenteric cyst, +GARD:0004083,Orphanet,ORPHA:1487,Disorder,Malformation syndrome,Cooks syndrome,Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome|ODP +GARD:0004085,Orphanet,ORPHA:221046,Disorder,Disease,Poikiloderma with neutropenia,"Poikiloderma with neutropenia, Clericuzio type" +GARD:0004098,Orphanet,ORPHA:2746,Disorder,Disease,Opsismodysplasia, +GARD:0004106,Orphanet,ORPHA:1475,Disorder,Malformation syndrome,Renal coloboma syndrome,Coloboma of optic nerve with renal disease|Papillo-renal syndrome +GARD:0004107,Orphanet,ORPHA:2086,Disorder,Disease,Optic pathway glioma, +GARD:0004116,Orphanet,ORPHA:2749,Group of disorders,Clinical group,Oromandibular-limb hypogenesis syndrome,Oroacral syndrome +GARD:0004118,Orphanet,ORPHA:141000,Disorder,Malformation syndrome,Orofaciodigital syndrome type 11,"OFD11|Oral-facial-digital syndrome type 11|Oral-facial-digital syndrome, Gabrielli type|Orofaciodigital syndrome, Gabrielli type" +GARD:0004119,Orphanet,ORPHA:85286,Disorder,Malformation syndrome,"X-linked intellectual disability, Shashi type",Syndromic X-linked intellectual disability type 11 +GARD:0004120,Orphanet,ORPHA:2919,Disorder,Malformation syndrome,Orofaciodigital syndrome type 5,"OFD5|Oral-facial-digital syndrome type 5|Orofaciodigital syndrome, Thurston type|Polydactyly postaxial with median cleft of upper lip|Thurston syndrome" +GARD:0004121,Orphanet,ORPHA:2750,Disorder,Malformation syndrome,Orofaciodigital syndrome type 1,OFD1|OFDI|OFDSI|Oral-facial-digital syndrome type 1|Papillon-Léage-Psaume syndrome +GARD:0004129,Orphanet,ORPHA:2760,Disorder,Malformation syndrome,OSLAM syndrome,Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome +GARD:0004130,Orphanet,ORPHA:1427,Disorder,Disease,Otospondylomegaepiphyseal dysplasia,OSMED +GARD:0004131,Orphanet,ORPHA:3314,Disorder,Disease,"Thiemann disease, familial form",Aseptic necrosis of phalangeal epiphyses|Osteochondrosis of phalangeal epiphyses +GARD:0004133,Orphanet,ORPHA:251262,Disorder,Disease,Familial osteochondritis dissecans,Osteochondritis dissecans and short stature +GARD:0004136,Orphanet,ORPHA:2769,Disorder,Malformation syndrome,"Familial osteodysplasia, Anderson type", +GARD:0004139,Orphanet,ORPHA:2772,Disorder,Malformation syndrome,Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome, +GARD:0004142,Orphanet,ORPHA:2645,Disorder,Malformation syndrome,Osteoglosphonic dysplasia,Osteoglophonic dwarfism +GARD:0004148,Orphanet,ORPHA:2780,Disorder,Malformation syndrome,Osteopathia striata-cranial sclerosis syndrome,Hyperostosis generalisata with striations|Robinow-Unger syndrome +GARD:0004151,Orphanet,ORPHA:2783,Disorder,Malformation syndrome,Autosomal dominant osteopetrosis type 1, +GARD:0004153,Orphanet+OMIM,OMIM:259720,Subtype of disorder,Malformation syndrome subtype,"Osteopetrosis, autosomal recessive 5","Osteopetrosis, infantile malignant 3" +GARD:0004154,Orphanet,ORPHA:2785,Disorder,Disease,Osteopetrosis with renal tubular acidosis,Carbonic anhydrase 2 deficiency|Guibaud-Vainsel syndrome|Marble brain disease|Mixed RTA|Mixed renal tubular acidosis|Renal tubular acidosis type 3 +GARD:0004155,Orphanet,ORPHA:2781,Group of disorders,Clinical group,Osteopetrosis and related disorders, +GARD:0004156,Orphanet,ORPHA:210110,Disorder,Malformation syndrome,Intermediate osteopetrosis,Autosomal recessive intermediate osteopetrosis +GARD:0004157,Orphanet+OMIM,OMIM:259710,Subtype of disorder,Malformation syndrome subtype,"Osteopetrosis, autosomal recessive 2","Osteopetrosis, osteoclast-poor|osteopetrosis, mild autosomal recessive form" +GARD:0004160,Orphanet,ORPHA:2788,Disorder,Disease,Osteoporosis-pseudoglioma syndrome,OPPG|Ocular form of osteogenesis imperfecta +GARD:0004163,Orphanet,ORPHA:79093,Disorder,Malformation syndrome,Foix-Alajouanine syndrome,Angiodysgenetic necrotizing myelopathy|Familial osteosclerosis with abnormalities of the nervous system and meninges|Subacute angiohypertrophic myelomalacia|Subacute ascending necrotizing myelitis|Subacute necrotizing myelitis +GARD:0004166,Orphanet,ORPHA:1338,Disorder,Malformation syndrome,Heart defect-tongue hamartoma-polysyndactyly syndrome,Ostravik-Lindemann-Solberg syndrome +GARD:0004168,Orphanet,ORPHA:2791,Disorder,Malformation syndrome,Otodental syndrome,Globodontia|Otodental dysplasia +GARD:0004169,Orphanet,ORPHA:2792,Disorder,Malformation syndrome,Otofaciocervical syndrome,Fara-Chlupackova syndrome|OFC syndrome +GARD:0004170,Orphanet,ORPHA:2793,Disorder,Malformation syndrome,Otoonychoperoneal syndrome, +GARD:0004176,Orphanet,ORPHA:1179,Disorder,Disease,Benign paroxysmal tonic upgaze of childhood with ataxia,Ouvrier-Billson syndrome +GARD:0004183,Orphanet,ORPHA:3203,Disorder,Disease,Overhydrated hereditary stomatocytosis, +GARD:0004189,Orphanet,ORPHA:1952,Disorder,Malformation syndrome,Epiphyseal stippling-osteoclastic hyperplasia syndrome,Pacman dysplasia +GARD:0004192,Orphanet,ORPHA:2800,Disorder,Disease,Extramammary Paget disease, +GARD:0004199,Orphanet,ORPHA:2184,Disorder,Malformation syndrome,Hydrocephaly-low insertion umbilicus syndrome,Palmer-Pagon syndrome +GARD:0004203,Orphanet,ORPHA:2805,Disorder,Morphological anomaly,Partial pancreatic agenesis,Congenital pancreatic agenesis|Partial agenesis of the pancreas +GARD:0004204,Orphanet,ORPHA:93292,Disorder,Disease,Adenoma of pancreas,Pancreatic adenoma +GARD:0004206,Orphanet,ORPHA:1333,Disorder,Disease,Familial pancreatic carcinoma,Familial pancreatic cancer +GARD:0004210,Orphanet,ORPHA:677,Disorder,Disease,Pancreatoblastoma, +GARD:0004213,Orphanet,ORPHA:93276,Subtype of disorder,Clinical subtype,Polyostotic fibrous dysplasia, +GARD:0004214,Orphanet,ORPHA:2807,Disorder,Disease,Papilloma of choroid plexus,CPP|Choroid plexus papilloma +GARD:0004219,Orphanet,ORPHA:100998,Disorder,Disease,Autosomal dominant spastic paraplegia type 17,SPG17|Silver syndrome|Spastic paraplegia-amyotrophy of hands and feet +GARD:0004222,Orphanet,ORPHA:2646,Disorder,Malformation syndrome,Parastremmatic dwarfism, +GARD:0004223,Orphanet,ORPHA:2825,Disorder,Malformation syndrome,PARC syndrome,Poikiloderma-alopecia-retrognathism-cleft palate syndrome +GARD:0004224,Orphanet,ORPHA:851,Disorder,Disease,Paris-Trousseau thrombocytopenia, +GARD:0004227,Orphanet,ORPHA:228140,Disorder,Disease,"Idiopathic ventricular fibrillation, non Brugada type","Familial paroxysmal ventricular fibrillation, non Brugada type" +GARD:0004228,Orphanet,ORPHA:2901,Disorder,Disease,Neuralgic amyotrophy,Acute brachial plexus neuritis|Brachial plexus neuritis|Immune brachial plexus neuropathy|Mononeuritis multiplex with brachial predilection|Neuralgic shoulder amyotrophy +GARD:0004229,Orphanet,ORPHA:1330,Disorder,Morphological anomaly,Partial atrioventricular septal defect,PAVC|Partial AVSD|Partial atrioventricular canal defect +GARD:0004235,Orphanet,ORPHA:94083,Disorder,Malformation syndrome,Partington syndrome,Partington-Mulley syndrome|X-linked intellectual disability-dystonia-dysarthria syndrome +GARD:0004236,Orphanet,ORPHA:295,Disorder,Malformation syndrome,Fetal parvovirus syndrome,Mother-to-child transmission of parvovirus syndrome|Parvovirus antenatal infection +GARD:0004238,Orphanet,ORPHA:1252,Disorder,Malformation syndrome,Blepharonasofacial malformation syndrome,Pashayan syndrome|Pashayan-Pruzansky syndrome +GARD:0004259,Orphanet,ORPHA:2976,Disorder,Malformation syndrome,"Pseudoleprechaunism syndrome, Patterson type",Patterson pseudoleprechaunism syndrome|Patterson syndrome +GARD:0004260,Orphanet,ORPHA:2439,Disorder,Malformation syndrome,Patterson-Stevenson-Fontaine syndrome,Patterson-Stevenson syndrome|Split foot deformity-mandibulofacial dysostosis syndrome +GARD:0004261,Orphanet,ORPHA:85410,Disorder,Disease,Oligoarticular juvenile idiopathic arthritis,Oligoarticular JIA|Pauciarticular chronic arthritis +GARD:0004264,Orphanet,ORPHA:2836,Disorder,Disease,PEHO syndrome,"Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|Progressive encephalopathy-optic atrophy syndrome" +GARD:0004265,Orphanet,ORPHA:702,Disorder,Disease,Pelizaeus-Merzbacher disease,"Diffuse familial brain sclerosis|PMD|Pelizaeus-Merzbacher brain sclerosis|Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" +GARD:0004266,Orphanet,ORPHA:280293,Subtype of disorder,Clinical subtype,Pelizaeus-Merzbacher-like disease due to AIMP1 mutation, +GARD:0004269,Orphanet,ORPHA:2840,Disorder,Malformation syndrome,Pelvic dysplasia-arthrogryposis of lower limbs syndrome,Ray-Peterson-Scott syndrome +GARD:0004270,Orphanet+OMIM,OMIM:169610,Subtype of disorder,Disease subtype,"Pemphigus vulgaris, familial", +GARD:0004271,Orphanet,ORPHA:705,Disorder,Malformation syndrome,Pendred syndrome,Goiter-deafness syndrome|Goiter-hearing loss syndrome +GARD:0004272,Orphanet,ORPHA:49,Disorder,Morphological anomaly,Penile agenesis,Aphallia|Penis agenesis +GARD:0004273,Orphanet,ORPHA:2842,Disorder,Morphological anomaly,Penoscrotal transposition, +GARD:0004276,Orphanet,ORPHA:363665,Disorder,Disease,Acroosteolysis-keloid-like lesions-premature aging syndrome,"Premature aging syndrome, Penttinen type" +GARD:0004278,Orphanet+OMIM,OMIM:261680,Subtype of disorder,Disease subtype,"Phosphoenolpyruvate carboxykinase deficiency, cytosolic","pepck deficiency, cytosolic|Pck1 deficiency, cytosolic" +GARD:0004279,Orphanet+OMIM,OMIM:261650,Subtype of disorder,Disease subtype,"Phosphoenolpyruvate carboxykinase deficiency, mitochondrial",pepck2 deficiency|Pck2 deficiency +GARD:0004291,Orphanet+OMIM,OMIM:610422,Subtype of disorder,Disease subtype,Alopecia-intellectual disability syndrome 2, +GARD:0004299,Orphanet,ORPHA:2776,Disorder,Malformation syndrome,Autosomal recessive distal osteolysis syndrome,Distal osteolysis-short stature-intellectual disability syndrome|Petit-Fryns syndrome +GARD:0004302,Orphanet,ORPHA:2496,Disorder,Malformation syndrome,Mesomelia-synostoses syndrome,"8q13 microdeletion syndrome|Del(8)q(13)|Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type|Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type|Monosomy 8q13|Verloes-David syndrome" +GARD:0004303,Orphanet,ORPHA:3224,Disorder,Malformation syndrome,Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome,Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome|Pfeiffer-Kapferer syndrome +GARD:0004304,Orphanet,ORPHA:2921,Disorder,Malformation syndrome,Preaxial polydactyly-colobomata-intellectual disability syndrome,Pfeiffer-Mayer syndrome +GARD:0004305,Orphanet,ORPHA:2871,Disorder,Malformation syndrome,Pfeiffer-Palm-Teller syndrome, +GARD:0004311,Orphanet,ORPHA:2874,Disorder,Malformation syndrome,Phakomatosis pigmentokeratotica, +GARD:0004312,Orphanet,ORPHA:2875,Disorder,Disease,Phakomatosis pigmentovascularis, +GARD:0004315,Orphanet,ORPHA:1919,Disorder,Malformation syndrome,Phenobarbital embryopathy, +GARD:0004319,Orphanet,ORPHA:226,Subtype of disorder,Clinical subtype,Dihydropteridine reductase deficiency,Hyperphenylalaninemia due to dihydropteridine reductase deficiency|PKU type 2|Phenylketonuria type 2 +GARD:0004323,Orphanet,ORPHA:2878,Disorder,Malformation syndrome,Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome,Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome|Stoll-Lévy-Francfort syndrome +GARD:0004329,Orphanet,ORPHA:319646,Disorder,Disease,PGM1-CDG,CDG syndrome type It|CDG-It|CDG1T|Congenital disorder of glycosylation type 1t|Congenital disorder of glycosylation type It|PGM1-related congenital disorder of glycosylation|Phosphoglucomutase-1 deficiency +GARD:0004331,Orphanet,ORPHA:443811,Disorder,Disease,PGM3-CDG,CID due to PGM3 deficiency|Combined immunodeficiency due to PGM3 deficiency|PGM3-related congenital disorder of glycosylation +GARD:0004337,Orphanet,ORPHA:3222,Disorder,Disease,Phosphoribosylpyrophosphate synthetase superactivity,PRPP synthetase superactivity|PRPS1 superactivity +GARD:0004344,Orphanet,ORPHA:2884,Disorder,Disease,Piebaldism, +GARD:0004346,Orphanet,ORPHA:99,Group of disorders,Category,Autosomal dominant cerebellar ataxia,ADCA|Autosomal dominant spinocerebellar ataxia +GARD:0004347,Orphanet,ORPHA:718,Disorder,Malformation syndrome,Isolated Pierre Robin syndrome,Isolated Pierre Robin sequence +GARD:0004357,Orphanet,ORPHA:67042,Disorder,Disease,Late-onset retinal degeneration,Autosomal dominant late-onset retinal degeneration|LORD +GARD:0004358,Orphanet,ORPHA:169095,Disorder,Disease,Severe combined immunodeficiency due to FOXN1 deficiency,Alymphoid cystic thymic dysgenesis|Nude/SCID|Nude/severe combined immunodeficiency|SCID due to FOXN1 deficiency|Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome|Winged helix deficiency +GARD:0004359,Orphanet,ORPHA:169,Disorder,Disease,Ringed hair disease,Pili annulati +GARD:0004361,Orphanet,ORPHA:2889,Disorder,Disease,Pili torti,Twisted hair +GARD:0004362,Orphanet,ORPHA:2891,Disorder,Malformation syndrome,Pili torti-developmental delay-neurological abnormalities syndrome, +GARD:0004364,Orphanet,ORPHA:2890,Disorder,Malformation syndrome,Pili torti-onychodysplasia syndrome, +GARD:0004365,Orphanet,ORPHA:2741,Disorder,Malformation syndrome,Ophthalmomandibulomelic dysplasia,OMM syndrome|Pillay syndrome +GARD:0004369,Orphanet,ORPHA:3353,Disorder,Malformation syndrome,Trichodermodysplasia-dental alterations syndrome,Pinheiro-Freire Maia-Miranda syndrome +GARD:0004372,Orphanet,ORPHA:2896,Disorder,Malformation syndrome,Pitt-Hopkins syndrome, +GARD:0004375,Orphanet,ORPHA:1078,Disorder,Malformation syndrome,Thumb stiffness-brachydactyly-intellectual disability syndrome,Piussan-Lenaerts-Mathieu syndrome +GARD:0004380,Orphanet,ORPHA:722,Disorder,Disease,Hypoplasminogenemia,Plasminogen deficiency type 1 +GARD:0004381,Orphanet,ORPHA:465,Disorder,Disease,Congenital plasminogen activator inhibitor type 1 deficiency,Congenital PAI-1 deficiency +GARD:0004382,Orphanet,ORPHA:85166,Disorder,Malformation syndrome,"Platyspondylic dysplasia, Torrance type","PLSD-T|Platyspondylic dysplasia, Torrance-Luton type|Platyspondylic lethal skeletal dysplasia, Torrance type" +GARD:0004386,Orphanet,ORPHA:723,Disorder,Disease,Pneumocystosis, +GARD:0004391,Orphanet,ORPHA:2908,Disorder,Disease,Kindler epidermolysis bullosa,Congenital bullous poikiloderma|Kindler syndrome|Poikiloderma of Kindler +GARD:0004392,Orphanet,ORPHA:2909,Disorder,Disease,Rothmund-Thomson syndrome,Poikiloderma of Rothmund-Thomson|RTS +GARD:0004410,Orphanet,ORPHA:2913,Group of disorders,Category,Non-syndromic polydactyly, +GARD:0004412,Orphanet,ORPHA:2754,Disorder,Malformation syndrome,Orofaciodigital syndrome type 6,Joubert syndrome with oral-facial-digital syndrome|Joubert syndrome with orofaciodigital defect|OFD6|Oral-facial-digital syndrome type 6|Polydactyly-cleft lip/palate-psychomotor retardation syndrome|Váradi syndrome|Váradi-Papp syndrome +GARD:0004413,Orphanet,ORPHA:2917,Disorder,Malformation syndrome,Polydactyly-myopia syndrome,Czeizel-Brooser syndrome +GARD:0004414,Orphanet+OMIM,OMIM:174200,Subtype of disorder,Morphological anomaly subtype,"Polydactyly, postaxial, type a1","Postaxial polydactyly, type a|polydactyly, postaxial" +GARD:0004417,Orphanet,ORPHA:93339,Disorder,Morphological anomaly,Polydactyly of a biphalangeal thumb,PPD1|Preaxial polydactyly type 1 +GARD:0004421,Orphanet,ORPHA:3286,Disorder,Disease,Catecholaminergic polymorphic ventricular tachycardia,Bidirectional ventricular tachycardia induced by catecholamine|CPVT|Malignant paroxysmal ventricular tachycardia|Polymorphic ventricular tachycardia induced by catecholamines +GARD:0004424,Orphanet,ORPHA:2928,Disorder,Malformation syndrome,Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,Lundberg syndrome +GARD:0004427,Orphanet,ORPHA:2930,Disorder,Disease,Cronkhite-Canada syndrome,Gastrointestinal polyposis-ectodermal changes syndrome|Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome +GARD:0004428,Orphanet,ORPHA:2934,Disorder,Malformation syndrome,Polysyndactyly-cardiac malformation syndrome,Bonneau syndrome +GARD:0004434,Orphanet,ORPHA:93405,Disorder,Morphological anomaly,Syndactyly type 4,"Polysyndactyly, Haas type" +GARD:0004436,Orphanet,ORPHA:1234,Disorder,Malformation syndrome,Bartsocas-Papas syndrome,Autosomal recessive popliteal pterygium syndrome|Lethal popliteal pterygium syndrome +GARD:0004437,Orphanet,ORPHA:2941,Disorder,Malformation syndrome,Porencephaly-cerebellar hypoplasia-internal malformations syndrome,Bonnemann-Meinecke syndrome +GARD:0004438,Orphanet,ORPHA:735,Disorder,Disease,Porokeratosis of Mibelli, +GARD:0004439,Orphanet,ORPHA:79502,Disorder,Disease,Punctate palmoplantar keratoderma type 2,PPKP2|PPPP|Punctate palmoplantar hyperkeratosis type 2 +GARD:0004446,Orphanet,ORPHA:79277,Disorder,Disease,Congenital erythropoietic porphyria,CEP|Günther disease +GARD:0004454,Orphanet,ORPHA:2942,Disorder,Disease,Postpoliomyelitis syndrome,Postpolio sequelae|Postpolio syndrome|Postpoliomyelitic syndrome|Postpoliomyelitis sequelae +GARD:0004457,Orphanet,ORPHA:280892,Group of disorders,Category,Posterior uveitis,Choroiditis +GARD:0004459,Orphanet,ORPHA:612,Group of disorders,Clinical group,Potassium-aggravated myotonia,K+-aggravated myotonia|K-aggravated myotonia|PAM +GARD:0004465,Orphanet,ORPHA:2876,Disorder,Malformation syndrome,PHAVER syndrome,Powell-Chandra-Saal syndrome +GARD:0004470,Orphanet,ORPHA:2957,Disorder,Malformation syndrome,Guttmacher syndrome,Preaxial deficiency-postaxial polydactyly-hypospadias syndrome +GARD:0004475,Orphanet,ORPHA:3000,Disorder,Disease,Familial male-limited precocious puberty,FMPP|Familial gonadotropin-independent male-limited sexual precocity|Male-limited precocious puberty|Testotoxicosis +GARD:0004477,Orphanet,ORPHA:749,Disorder,Disease,Congenital prekallikrein deficiency, +GARD:0004482,Orphanet,ORPHA:2958,Disorder,Malformation syndrome,X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,Prieto-Badia-Mulas syndrome +GARD:0004483,Orphanet,ORPHA:79477,Subtype of disorder,Clinical subtype,Griscelli syndrome type 2,Griscelli-Pruniéras syndrome type 2|Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome +GARD:0004484,Orphanet,ORPHA:244,Disorder,Disease,Primary ciliary dyskinesia,PCD +GARD:0004485,Orphanet,ORPHA:247604,Disorder,Disease,Juvenile primary lateral sclerosis,JPLS|Juvenile PLS +GARD:0004488,Orphanet,ORPHA:3042,Disorder,Malformation syndrome,Intellectual disability-cataracts-calcified pinnae-myopathy syndrome,Primrose syndrome +GARD:0004494,Orphanet,ORPHA:2959,Disorder,Malformation syndrome,Progeria-short stature-pigmented nevi syndrome,Mulvihill-Smith syndrome +GARD:0004497,Orphanet,ORPHA:2963,Disorder,Malformation syndrome,"Progeroid syndrome, Petty type",Fontaine progeroid syndrome|Petty syndrome|Petty-Laxova-Wiedemann syndrome +GARD:0004500,Orphanet,ORPHA:39,Disorder,Disease,Acromelanosis, +GARD:0004503,Orphanet,ORPHA:520820,Group of disorders,Category,Progressive external ophthalmoplegia, +GARD:0004504,Orphanet+OMIM,OMIM:304400,Subtype of disorder,Etiological subtype,"Deafness, x-linked 2","Deafness, conductive, with stapes fixation|deafness 3, conductive, with stapes fixation|nance deafness|deafness, mixed, with perilymphatic gusher|sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear|perilymphatic gusher-deafness syndrome" +GARD:0004507,Orphanet,ORPHA:99750,Subtype of disorder,Clinical subtype,Atypical progressive supranuclear palsy syndrome,Atypical PSP syndrome +GARD:0004508,Orphanet,ORPHA:2965,Disorder,Disease,Prolactinoma,Lactotroph adenoma|PRL-secreting pituitary adenoma|PRLoma|Pituitary lactotrophic adenoma|Prolactin-secreting pituitary adenoma +GARD:0004509,Orphanet,ORPHA:492,Disorder,Disease,Proliferating trichilemmal cyst, +GARD:0004513,Orphanet,ORPHA:2966,Disorder,Disease,Properdin deficiency, +GARD:0004518,Orphanet,ORPHA:1126,Disorder,Malformation syndrome,Aprosencephaly cerebellar dysgenesis, +GARD:0004520,Orphanet,ORPHA:1331,Disorder,Disease,Familial prostate cancer, +GARD:0004522,Orphanet,ORPHA:2967,Disorder,Disease,Transcobalamin I deficiency,Haptocorrin deficiency|TCI deficiency|Transcobalamin-1 deficiency +GARD:0004527,Orphanet,ORPHA:79278,Disorder,Disease,Autosomal erythropoietic protoporphyria,EPP +GARD:0004528,Orphanet,ORPHA:2508,Disorder,Malformation syndrome,Corpus callosum agenesis-abnormal genitalia syndrome,ACC-abnormal genitalia syndrome|Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|Proud syndrome|Proud-Levine-Carpenter syndrome +GARD:0004531,Orphanet,ORPHA:70,Disorder,Disease,Proximal spinal muscular atrophy,SMA +GARD:0004536,Orphanet,ORPHA:129,Disorder,Disease,Pseudopelade of Brocq, +GARD:0004539,Orphanet,ORPHA:300,Disorder,Disease,Bifunctional enzyme deficiency, +GARD:0004540,Orphanet,ORPHA:750,Disorder,Disease,Pseudoachondroplasia,Pseudoachondroplastic dysplasia|Pseudoachondroplastic spondyloepiphyseal dysplasia +GARD:0004543,Orphanet,ORPHA:2971,Disorder,Disease,Peroxisomal acyl-CoA oxidase deficiency,Pseudo-NALD|Pseudo-neonatal adrenoleukodystrophy|Pseudoadrenoleukodystrophy +GARD:0004544,Orphanet,ORPHA:221120,Disorder,Malformation syndrome,Pseudoaminopterin syndrome,ASSA|Aminopterin syndrome-like sine aminopterin +GARD:0004550,Orphanet,ORPHA:2983,Disorder,Disease,Disorder of sex development-intellectual disability syndrome,Verloes-Gillerot-Fryns syndrome +GARD:0004552,Orphanet,ORPHA:171876,Subtype of disorder,Clinical subtype,Generalized pseudohypoaldosteronism type 1,Autosomal recessive PHA1|Autosomal recessive pseudohypoaldosteronism type 1|Generalized PHA1 +GARD:0004553,Orphanet,ORPHA:757,Disorder,Disease,Pseudohypoaldosteronism type 2,"Chloride shunt syndrome|Familial hyperkalemic hypertension|Gordon hyperkalemia-hypertension syndrome|Hyperkalemia-hypertension syndrome, Gordon type|Hypertensive hyperkalemia|Mineralocorticoid resistant hyperkalemia|PHA2|PHAII|Spitzer-Weinstein syndrome" +GARD:0004559,Orphanet,ORPHA:2980,Disorder,Malformation syndrome,Acrootoocular syndrome,Pseudopapilledema-blepharophimosis-hand anomalies syndrome +GARD:0004561,Orphanet,ORPHA:238624,Disorder,Disease,Idiopathic intracranial hypertension,Benign intracranial hypertension|IIH|Pseudotumor cerebri +GARD:0004568,Orphanet,ORPHA:2988,Disorder,Malformation syndrome,Pterygium colli-intellectual disability-digital anomalies syndrome,Khalifa-Graham syndrome +GARD:0004569,Orphanet,ORPHA:2989,Disorder,Morphological anomaly,Familial pterygium of the conjunctiva, +GARD:0004570,Orphanet,ORPHA:2987,Disorder,Malformation syndrome,Antecubital pterygium syndrome, +GARD:0004573,Orphanet,ORPHA:79447,Disorder,Malformation syndrome,X-linked lethal multiple pterygium syndrome, +GARD:0004577,Orphanet,ORPHA:2999,Disorder,Malformation syndrome,Ptosis-strabismus-ectopic pupils syndrome,McPherson-Hall syndrome +GARD:0004582,Orphanet,ORPHA:264675,Disorder,Disease,Hereditary pulmonary alveolar proteinosis,Congenital PAP|Congenital pulmonary alveolar proteinosis +GARD:0004584,Orphanet,ORPHA:2038,Disorder,Morphological anomaly,Pulmonary arteriovenous malformation,PAVM +GARD:0004586,Orphanet,ORPHA:99050,Disorder,Morphological anomaly,Abnormal origin of right or left pulmonary artery from the aorta,Hemitruncus arteriosus|Pulmonary artery coming from the aorta +GARD:0004588,Orphanet,ORPHA:1207,Disorder,Morphological anomaly,Pulmonary atresia with ventricular septal defect, +GARD:0004589,Orphanet,ORPHA:99084,Disorder,Morphological anomaly,Peripheral pulmonary stenosis,Branch pulmonary artery stenosis|Pulmonary branch stenosis +GARD:0004593,Orphanet,ORPHA:3161,Disorder,Malformation syndrome,Congenital pulmonary sequestration,Congenital bronchopulmonary sequestration +GARD:0004594,Orphanet,ORPHA:3192,Subtype of disorder,Clinical subtype,Supravalvular pulmonary stenosis, +GARD:0004597,Orphanet,ORPHA:982,Group of disorders,Clinical group,Pulmonary valve agenesis,Absent pulmonary valve syndrome|Congenital absence of the pulmonary valve|PVA +GARD:0004598,Orphanet,ORPHA:3188,Disorder,Morphological anomaly,Congenital pulmonary veins atresia or stenosis, +GARD:0004599,Orphanet,ORPHA:3090,Group of disorders,Clinical group,Congenital pulmonary venous return anomaly,Congenital pulmonary venous connection anomaly +GARD:0004600,Orphanet,ORPHA:1208,Disorder,Morphological anomaly,Pulmonary atresia-intact ventricular septum syndrome, +GARD:0004603,Orphanet,ORPHA:99710,Disorder,Disease,Punctate acrokeratoderma freckle-like pigmentation, +GARD:0004606,Orphanet,ORPHA:760,Disorder,Disease,Purine nucleoside phosphorylase deficiency,PNP deficiency|PNPase deficiency +GARD:0004607,Orphanet,ORPHA:93585,Subtype of disorder,Clinical subtype,Immune-mediated thrombotic thrombocytopenic purpura,Acquired TTP|Acquired thrombotic thrombocytopenic purpura|Autoimmune thrombotic thrombocytopenic purpura|Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies|aTTP|iTTP +GARD:0004610,Orphanet,ORPHA:3003,Disorder,Malformation syndrome,Pyknoachondrogenesis,Camera syndrome +GARD:0004611,Orphanet,ORPHA:763,Disorder,Disease,Pycnodysostosis,Pyknodysostosis +GARD:0004612,Orphanet,ORPHA:3005,Disorder,Disease,Pyle disease,"Metaphyseal dysplasia, Pyle type" +GARD:0004614,Orphanet,ORPHA:764,Disorder,Disease,Pyomyositis,Myositis purulenta tropica|Myositis tropicans|PM|Suppurative myositis|Tropical pyomyositis +GARD:0004620,Orphanet,ORPHA:79243,Subtype of disorder,Clinical subtype,Pyruvate dehydrogenase E1-alpha deficiency,PDHAD|Pyruvate decarboxylase deficiency|Pyruvate dehydrogenase complex E1 component subunit alpha deficiency +GARD:0004627,Orphanet,ORPHA:3026,Disorder,Malformation syndrome,Radial ray hypoplasia-choanal atresia syndrome,Goldblatt-Viljoen syndrome +GARD:0004628,Orphanet,ORPHA:2712,Disorder,Malformation syndrome,Oculofaciocardiodental syndrome,Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|OFCD syndrome +GARD:0004633,Orphanet,ORPHA:3016,Disorder,Malformation syndrome,Absent radius-anogenital anomalies syndrome, +GARD:0004634,Orphanet,ORPHA:99843,Subtype of disorder,Clinical subtype,Leukocyte adhesion deficiency type II,CDG syndrome type IIc|CDG-IIc|CDG2C|LAD-II|Rambam-Hasharon syndrome|SLC35C1-CDG +GARD:0004635,Orphanet,ORPHA:3018,Disorder,Malformation syndrome,Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome,Rambaud-Gallian syndrome|Rambaud-Gallian-Touchard syndrome +GARD:0004636,Orphanet,ORPHA:1051,Disorder,Malformation syndrome,Ramos-Arroyo syndrome,Corneal anesthesia-deafness-intellectual disability syndrome|Corneal anesthesia-hearing loss-intellectual disability syndrome +GARD:0004637,Orphanet,ORPHA:3021,Disorder,Malformation syndrome,RAPADILINO syndrome, +GARD:0004638,Orphanet,ORPHA:3023,Disorder,Malformation syndrome,External auditory canal atresia-vertical talus-hypertelorism syndrome,Rasmussen-Johnsen-Thomsen syndrome +GARD:0004641,Orphanet,ORPHA:2278,Disorder,Malformation syndrome,Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,Passwell-Goodman-Siprkowski syndrome +GARD:0004644,Orphanet,ORPHA:1188,Disorder,Malformation syndrome,Ataxia-deafness-intellectual disability syndrome,Ataxia-hearing loss-intellectual disability syndrome|Reardon-Baraitser syndrome +GARD:0004647,Orphanet,ORPHA:83452,Disorder,Disease,Complex regional pain syndrome, +GARD:0004648,Orphanet,ORPHA:772,Disorder,Disease,Infantile Refsum disease,IRD|Mild PBD-ZSD|Mild peroxisome biogenesis disorder-Zellweger spectrum disorder +GARD:0004655,Orphanet,ORPHA:2838,Disorder,Malformation syndrome,Renal caliceal diverticuli-deafness syndrome,Renal caliceal diverticuli-hearing loss syndrome +GARD:0004665,Orphanet,ORPHA:3032,Disorder,Malformation syndrome,NPHP3-related Meckel-like syndrome,Goldston syndrome|Meckel syndrome type 7|Meckel-like syndrome type 1|Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome +GARD:0004666,Orphanet,ORPHA:402041,Subtype of disorder,Clinical subtype,Autosomal recessive distal renal tubular acidosis,AR dRTA|Autosomal recessive distal RTA +GARD:0004667,Orphanet,ORPHA:18,Disorder,Disease,Distal renal tubular acidosis,Classic RTA|Familial distal primary acidosis|Renal tubular acidosis type 1|dRTA +GARD:0004668,Orphanet,ORPHA:93608,Subtype of disorder,Clinical subtype,Autosomal dominant distal renal tubular acidosis,AD dRTA +GARD:0004680,Orphanet,ORPHA:1852,Disorder,Disease,X-linked retinal dysplasia, +GARD:0004683,Orphanet,ORPHA:3085,Disorder,Malformation syndrome,Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome|Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome +GARD:0004684,Orphanet+OMIM,OMIM:500004,Subtype of disorder,Clinical subtype,Retinitis pigmentosa-deafness syndrome,"Retinitis pigmentosa 8, formerly|retinitis pigmentosa 21, formerly" +GARD:0004690,Orphanet,ORPHA:792,Disorder,Malformation syndrome,X-linked retinoschisis,X-linked juvenile retinoschisis|XLRS +GARD:0004694,Orphanet,ORPHA:3095,Disorder,Disease,Atypical Rett syndrome,Atypical RTT|Rett syndrome variant +GARD:0004695,Orphanet,ORPHA:3088,Disorder,Malformation syndrome,Revesz syndrome,Dyskeratosis congenita with bilateral exudative retinopathy|Retinopathy-anemia-central nervous system anomalies syndrome|Revesz-DeBuse syndrome +GARD:0004697,Orphanet,ORPHA:779,Disorder,Disease,Reynolds syndrome,Primary biliary cirrhosis and systemic scleroderma +GARD:0004701,Orphanet,ORPHA:99756,Subtype of disorder,Clinical subtype,Alveolar rhabdomyosarcoma, +GARD:0004702,Orphanet,ORPHA:99757,Subtype of disorder,Clinical subtype,Embryonal rhabdomyosarcoma, +GARD:0004703,Orphanet,ORPHA:2831,Disorder,Malformation syndrome,"Rhizomelic dysplasia, Patterson-Lowry type", +GARD:0004704,Orphanet,ORPHA:93569,Disorder,Disease,Polymyalgia rheumatica,Rhizomelic pseudopolyarthritis +GARD:0004705,Orphanet,ORPHA:3098,Disorder,Malformation syndrome,"Rhizomelic syndrome, Urbach type", +GARD:0004709,Orphanet,ORPHA:3101,Disorder,Malformation syndrome,Richieri Costa-da Silva syndrome,Myotonia-intellectual disability-skeletal anomalies syndrome +GARD:0004718,Orphanet,ORPHA:3102,Disorder,Malformation syndrome,Richieri Costa-Pereira syndrome,Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome|Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome +GARD:0004721,Orphanet,ORPHA:439,Disorder,Morphological anomaly,Isolated right ventricular hypoplasia, +GARD:0004722,Orphanet,ORPHA:178303,Disorder,Malformation syndrome,8q22.1 microdeletion syndrome,Monosomy 8q22.1|Nablus mask-like facial syndrome +GARD:0004723,Orphanet,ORPHA:97244,Disorder,Disease,Rigid spine syndrome,Rigid spine congenital muscular dystrophy +GARD:0004724,Orphanet,ORPHA:1441,Disorder,Malformation syndrome,Ring chromosome 17 syndrome,Ring 17|Ring chromosome 17 +GARD:0004729,Orphanet,ORPHA:3104,Disorder,Malformation syndrome,Robin sequence-oligodactyly syndrome,Pierre Robin sequence-oligodactyly syndrome +GARD:0004730,Orphanet+OMIM,OMIM:180750,Subtype of disorder,Malformation syndrome subtype,Robinow-sorauf syndrome,"Craniosynostosis-bifid hallux syndrome|acrocephalosyndactyly, robinow-sorauf type" +GARD:0004732,Orphanet,ORPHA:79499,Disorder,Malformation syndrome,Autosomal dominant deafness-onychodystrophy syndrome,Autosomal dominant hearing loss-onychodystrophy syndrome|DDOD syndrome +GARD:0004733,Orphanet,ORPHA:529,Disorder,Disease,Roch-Leri mesosomatous lipomatosis, +GARD:0004737,Orphanet,ORPHA:247775,Subtype of disorder,Clinical subtype,Mayer-Rokitansky-Küster-Hauser syndrome type 1,Congenital absence of uterus and vagina|MRKH syndrome type 1|Rokitansky sequence +GARD:0004738,Orphanet,ORPHA:3110,Disorder,Disease,Rombo syndrome, +GARD:0004740,Orphanet,ORPHA:1837,Disorder,Disease,Ulna metaphyseal dysplasia syndrome,Rosenberg-Lohr syndrome +GARD:0004741,Orphanet,ORPHA:3115,Disorder,Disease,Roussy-Lévy syndrome,"Hereditary areflexic dystasia, Roussy-Lévy type" +GARD:0004744,Orphanet,ORPHA:290,Disorder,Disease,Congenital rubella syndrome,CRS|Fetal rubella syndrome|Mother-to-child transmission of rubella syndrome +GARD:0004748,Orphanet,ORPHA:3121,Disorder,Malformation syndrome,Ruvalcaba syndrome, +GARD:0004752,Orphanet,ORPHA:2351,Disorder,Malformation syndrome,Kousseff syndrome,Sacral meningocele-conotruncal heart defects syndrome +GARD:0004754,Orphanet,ORPHA:309334,Subtype of disorder,Clinical subtype,Salla disease, +GARD:0004767,Orphanet,ORPHA:252164,Disorder,Disease,Benign schwannoma,Neurilemmoma|Neurilemoma|Peripheral fibroblastoma +GARD:0004768,Orphanet,ORPHA:93921,Disorder,Disease,Schwannomatosis,NF3|Neurilemmomatosis|Neurofibromatosis type 3 +GARD:0004769,Orphanet,ORPHA:75840,Disorder,Disease,"Congenital muscular dystrophy, Ullrich type",Scleroatonic muscular dystrophy|UCMD|Ullrich disease +GARD:0004771,Orphanet,ORPHA:3152,Disorder,Malformation syndrome,Sclerosteosis,Cortical hyperostosis-syndactyly syndrome +GARD:0004774,Orphanet,ORPHA:832,Disorder,Disease,Succinyl-CoA:3-oxoacid CoA transferase deficiency,OXCT1 deficiency|SCOT deficiency|Succinyl-CoA acetoacetate transferase deficiency|Succinyl-CoA:3-ketoacid CoA transferase deficiency +GARD:0004775,Orphanet,ORPHA:915,Disorder,Malformation syndrome,Aarskog-Scott syndrome,Aarskog syndrome|Faciodigitogenital syndrome|Faciogenital dysplasia +GARD:0004776,Orphanet,ORPHA:1514,Disorder,Malformation syndrome,Craniodigital-intellectual disability syndrome,Scott craniodigital syndrome|Scott-Bryant-Graham syndrome +GARD:0004777,Orphanet,ORPHA:806,Disorder,Disease,Scott syndrome, +GARD:0004778,Orphanet,ORPHA:1778,Disorder,Malformation syndrome,Facial dysmorphism-shawl scrotum-joint laxity syndrome,Seaver-Cassidy syndrome +GARD:0004792,Orphanet,ORPHA:842,Disorder,Disease,Testicular seminomatous germ cell tumor,Seminoma of testis|Seminomatous germ cell tumor of testis|Testicular seminoma +GARD:0004815,Orphanet,ORPHA:29822,Disorder,Disease,Spontaneous periodic hypothermia,Episodic spontaneous hypothermia|Shapiro syndrome +GARD:0004818,Orphanet,ORPHA:810,Disorder,Disease,Shigellosis, +GARD:0004822,Orphanet,ORPHA:26792,Disorder,Disease,Short chain acyl-CoA dehydrogenase deficiency,ACADS deficiency|SCAD deficiency|SCADD +GARD:0004832,Orphanet,ORPHA:93268,Disorder,Malformation syndrome,"Short rib-polydactyly syndrome, Beemer-Langer type",Short rib-polydactyly syndrome type 4 +GARD:0004833,Orphanet,ORPHA:93269,Disorder,Malformation syndrome,"Short rib-polydactyly syndrome, Majewski type",Short rib-polydactyly syndrome type 2 +GARD:0004834,Orphanet,ORPHA:93270,Disorder,Malformation syndrome,"Short rib-polydactyly syndrome, Saldino-Noonan type",Short rib-polydactyly syndrome type 1 +GARD:0004835,Orphanet,ORPHA:93271,Disorder,Malformation syndrome,"Short rib-polydactyly syndrome, Verma-Naumoff type",Short rib-polydactyly syndrome type 3 +GARD:0004838,Orphanet,ORPHA:2867,Disorder,Malformation syndrome,"Short stature, Brussels type",Mievis-Verellen-Dumoulin syndrome +GARD:0004841,Orphanet,ORPHA:2866,Disorder,Malformation syndrome,Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome,Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome|Thong-Douglas-Ferrante syndrome +GARD:0004856,Orphanet,ORPHA:2863,Disorder,Malformation syndrome,Short stature-wormian bones-dextrocardia syndrome,Stratton-Parker syndrome +GARD:0004861,Orphanet,ORPHA:2462,Disorder,Malformation syndrome,Shprintzen-Goldberg syndrome,Marfanoid craniosynostosis syndrome|SGS +GARD:0004863,Orphanet,ORPHA:811,Disorder,Disease,Shwachman-Diamond syndrome,Pancreatic insufficiency and bone marrow dysfunction|SDS|Shwachman syndrome|Shwachman-Bodian-Diamond syndrome +GARD:0004865,Orphanet,ORPHA:3166,Disorder,Disease,Sialuria,"Sialuria, French type" +GARD:0004867,Orphanet,ORPHA:3167,Disorder,Malformation syndrome,Siegler-Brewer-Carey syndrome, +GARD:0004869,Orphanet,ORPHA:3168,Disorder,Malformation syndrome,Sillence syndrome,Brachydactyly-symphalangism syndrome +GARD:0004870,Orphanet,ORPHA:813,Disorder,Disease,Silver-Russell syndrome,Silver-Russell dwarfism +GARD:0004873,Orphanet,ORPHA:1968,Disorder,Malformation syndrome,Flat face-microstomia-ear anomaly syndrome,Blepharophimosis-telecanthus-microstomia syndrome|Simosa craniofacial syndrome|Simosa-Penchaszadeh-Bustos syndrome +GARD:0004877,Orphanet+OMIM,OMIM:147250,Subtype of disorder,Malformation syndrome subtype,Solitary median maxillary central incisor,"single central maxillary incisor|fused incisors|Incisors, fused|single upper central incisor" +GARD:0004879,Orphanet+OMIM,OMIM:140400,Subtype of disorder,Disease subtype,"Progressive familial heart block, type ii", +GARD:0004880,Orphanet+OMIM,OMIM:182190,Subtype of disorder,Disease subtype,Sinus node disease and myopia,Sick sinus syndrome and myopia|sss-myopia syndrome +GARD:0004881,Orphanet,ORPHA:247698,Subtype of disorder,Clinical subtype,Multiple endocrine neoplasia type 2A,MEN2A|PTC syndrome|Sipple syndrome +GARD:0004883,Orphanet,ORPHA:101063,Disorder,Morphological anomaly,Situs inversus totalis,Complete situs inversus|Complete situs inversus viscerum|Situs inversus +GARD:0004886,Orphanet,ORPHA:2565,Disorder,Malformation syndrome,Mononen-Karnes-Senac syndrome,Skeletal dysplasia-brachydactyly syndrome +GARD:0004891,Orphanet,ORPHA:83629,Disorder,Disease,Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,H-SMD|Hypomyelination-spondyloepimetaphyseal dysplasia syndrome|Leukoencephalopathy-SEMD syndrome|Leukoencephalopathy-metaphyseal chondrodysplasia syndrome +GARD:0004898,Orphanet,ORPHA:3394,Group of disorders,Clinical group,Soft tissue sarcoma,Malignant mesenchymal tumor|Malignant soft tissue tumor|Soft part sarcoma +GARD:0004899,Orphanet,ORPHA:2234,Disorder,Malformation syndrome,Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome,Sohval-Soffer syndrome +GARD:0004900,Orphanet,ORPHA:97283,Disorder,Disease,Somatostatinoma, +GARD:0004905,Orphanet,ORPHA:1355,Disorder,Malformation syndrome,Congenital heart defect-round face-developmental delay syndrome,Sonoda syndrome +GARD:0004910,Orphanet,ORPHA:98,Disorder,Disease,Autosomal recessive spastic ataxia of Charlevoix-Saguenay,ARSACS|Autosomal recessive spastic ataxia type 6|SPAX6 +GARD:0004914,Orphanet,ORPHA:293168,Disorder,Disease,Infantile-onset ascending hereditary spastic paralysis,IAHSP +GARD:0004918,Orphanet,ORPHA:2826,Disorder,Disease,Spastic paraplegia-precocious puberty syndrome, +GARD:0004919,Orphanet,ORPHA:2822,Disorder,Disease,Autosomal recessive spastic paraplegia type 11,Nakamura-Osame syndrome|SPG11|Spastic paraplegia-intellectual disability-thin corpus callosum syndrome +GARD:0004921,Orphanet,ORPHA:2821,Disorder,Disease,Spastic paraplegia-neuropathy-poikiloderma syndrome,Antinolo-Nieto-Borrego syndrome +GARD:0004922,Orphanet,ORPHA:209951,Disorder,Disease,Autosomal recessive spastic paraplegia type 18,SPG18 +GARD:0004923,Orphanet,ORPHA:99015,Disorder,Disease,Spastic paraplegia type 2,SPG2|Spastic gait type 2|Spastic paraparesis type 2|X-linked spastic paraplegia type 2 +GARD:0004924,Orphanet,ORPHA:139480,Disorder,Disease,Autosomal recessive spastic paraplegia type 39,SPG39|Spastic paraplegia due to NTE mutation|Spastic paraplegia due to neuropathy target esterase mutation +GARD:0004925,Orphanet,ORPHA:100985,Disorder,Disease,Autosomal dominant spastic paraplegia type 4,SPG4 +GARD:0004926,Orphanet,ORPHA:100986,Disorder,Disease,Autosomal recessive spastic paraplegia type 5A,SPG5A +GARD:0004927,Orphanet,ORPHA:99013,Disorder,Disease,Spastic paraplegia type 7,SPG7 +GARD:0004928,Orphanet,ORPHA:100988,Disorder,Disease,Autosomal dominant spastic paraplegia type 6,SPG6 +GARD:0004931,Orphanet,ORPHA:2818,Disorder,Disease,Spastic paraplegia-glaucoma-intellectual disability syndrome, +GARD:0004932,Orphanet,ORPHA:3011,Disorder,Disease,Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome +GARD:0004936,Orphanet,ORPHA:3449,Disorder,Malformation syndrome,Weill-Marchesani syndrome,Spherophakia-brachymorphia syndrome +GARD:0004938,Orphanet,ORPHA:79264,Disorder,Disease,Juvenile neuronal ceroid lipofuscinosis,Batten disease|JNCL|Juvenile NCL|Spielmeyer-Vogt disease +GARD:0004940,Orphanet,ORPHA:3176,Disorder,Malformation syndrome,Spina bifida-hypospadias syndrome, +GARD:0004942,Orphanet,ORPHA:1217,Disorder,Disease,Spinal atrophy-ophthalmoplegia-pyramidal syndrome,Hamano-Tsukamoto syndrome +GARD:0004945,Orphanet,ORPHA:83418,Subtype of disorder,Clinical subtype,Proximal spinal muscular atrophy type 2,Intermediate spinal muscular atrophy|SMA type 2|SMA type II|SMA-II|SMA2 +GARD:0004947,Orphanet+OMIM,OMIM:616866,Subtype of disorder,Disease subtype,Spinal muscular atrophy with congenital bone fractures 1,"Spinal muscular atrophy, type i, with congenital bone fractures" +GARD:0004950,Orphanet,ORPHA:211017,Disorder,Disease,Spinocerebellar ataxia type 30,SCA30 +GARD:0004952,Orphanet,ORPHA:95434,Disorder,Disease,Autosomal recessive cerebellar ataxia-movement disorder syndrome,SCAR4|SCASI +GARD:0004953,Orphanet,ORPHA:98766,Disorder,Disease,Spinocerebellar ataxia type 5,SCA5 +GARD:0004954,Orphanet,ORPHA:284332,Disorder,Disease,Infantile-onset autosomal recessive nonprogressive cerebellar ataxia,Autosomal recessive spinocerebellar ataxia type 6|SCAR6 +GARD:0004955,Orphanet,ORPHA:94147,Disorder,Disease,Spinocerebellar ataxia type 7,Ataxia with pigmentary retinopathy|Cerebellar syndrome-pigmentary maculopathy syndrome|SCA7 +GARD:0004956,Orphanet,ORPHA:98760,Disorder,Disease,Spinocerebellar ataxia type 8,SCA8 +GARD:0004958,Orphanet,ORPHA:1185,Disorder,Disease,Spinocerebellar ataxia-dysmorphism syndrome, +GARD:0004963,Orphanet,ORPHA:2063,Disorder,Malformation syndrome,Splenogonadal fusion-limb defects-micrognathia syndrome,SGFLD syndrome +GARD:0004967,Orphanet,ORPHA:2329,Disorder,Malformation syndrome,Karsch-Neugebauer syndrome,Split hand/split foot-nystagmus syndrome +GARD:0004969,Orphanet,ORPHA:2437,Disorder,Malformation syndrome,Czeizel-Losonci syndrome,"Split hand with obstructive uropathy, spina bifida and diaphragmatic defects|Split hand-urinary anomalies-spina bifida syndrome" +GARD:0004970,Orphanet,ORPHA:93357,Disorder,Disease,SPONASTRIME dysplasia,"Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia|Spondyloepimetaphyseal dysplasia, Sponastrime type" +GARD:0004972,Orphanet,ORPHA:3180,Disorder,Malformation syndrome,Spondylocamptodactyly syndrome, +GARD:0004973,Orphanet+OMIM,OMIM:609813,Subtype of disorder,Malformation syndrome subtype,"Spondylocostal dysostosis 3, autosomal recessive", +GARD:0004974,Orphanet,ORPHA:3275,Disorder,Malformation syndrome,Spondylocarpotarsal synostosis,Synspondylism +GARD:0004976,Orphanet+OMIM,OMIM:613686,Subtype of disorder,Malformation syndrome subtype,"Spondylocostal dysostosis 4, autosomal recessive", +GARD:0004977,Orphanet+OMIM,OMIM:271630,Subtype of disorder,Malformation syndrome subtype,"Brachyolmia type 1, toledo type","sed, chondroitin sulfate type|Spondyloepiphyseal dysplasia tarda, toledo type|paps-chondroitin sulfate sulfotransferase deficiency" +GARD:0004978,Orphanet,ORPHA:1855,Disorder,Malformation syndrome,Spondyloenchondrodysplasia,SPENCD|Spondyloenchondromatosis|Spondylometaphyseal dysplasia with enchondromatous changes +GARD:0004979,Orphanet,ORPHA:93349,Disorder,Disease,X-linked spondyloepimetaphyseal dysplasia, +GARD:0004980,Orphanet,ORPHA:93352,Disorder,Disease,"Spondyloepimetaphyseal dysplasia, Shohat type","SEMD, Shohat type" +GARD:0004982,Orphanet,ORPHA:93359,Disorder,Disease,Spondyloepimetaphyseal dysplasia with joint laxity,"SEMD-JL|SEMDJL1|Spondyloepimetaphyseal dysplasia with joint laxity type 1|Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" +GARD:0004984,Orphanet,ORPHA:1830,Disorder,Disease,Schimke immuno-osseous dysplasia,Schimke syndrome|Spondyloepiphyseal dysplasia-nephrotic syndrome +GARD:0004985,Orphanet+OMIM,OMIM:313400,Subtype of disorder,Disease subtype,"Spondyloepiphyseal dysplasia tarda, x-linked","Sed tarda, x-linked|spondyloepiphyseal dysplasia, late" +GARD:0004987,Orphanet,ORPHA:94068,Disorder,Disease,Spondyloepiphyseal dysplasia congenita,Congenital spondyloepiphyseal dysplasia|SEDC|Spranger-Wiedemann disease +GARD:0004991,Orphanet,ORPHA:93315,Disorder,Disease,"Spondylometaphyseal dysplasia, 'corner fracture' type","Spondylometaphyseal dysplasia, Sutcliffe type" +GARD:0004993,Orphanet,ORPHA:93317,Disorder,Malformation syndrome,"Spondylometaphyseal dysplasia, Sedaghatian type", +GARD:0004994,Orphanet,ORPHA:1856,Disorder,Disease,Spondyloperipheral dysplasia-short ulna syndrome, +GARD:0004997,Orphanet,ORPHA:2903,Disorder,Disease,Familial spontaneous pneumothorax, +GARD:0005003,Orphanet,ORPHA:841,Disorder,Disease,Sebocystomatosis,Steatocystoma multiplex +GARD:0005004,Orphanet,ORPHA:3184,Disorder,Malformation syndrome,Steatocystoma multiplex-natal teeth syndrome, +GARD:0005012,Orphanet,ORPHA:2017,Disorder,Morphological anomaly,Sternal cleft,Cleft sternum|Sternum bifidum +GARD:0005015,Orphanet,ORPHA:3196,Disorder,Disease,Steroid dehydrogenase deficiency-dental anomalies syndrome,Lyngstadaas syndrome +GARD:0005018,Orphanet,ORPHA:90653,Subtype of disorder,Clinical subtype,Stickler syndrome type 1, +GARD:0005020,Orphanet,ORPHA:90654,Subtype of disorder,Clinical subtype,Stickler syndrome type 2, +GARD:0005021,Orphanet,ORPHA:166100,Disorder,Malformation syndrome,Autosomal dominant otospondylomegaepiphyseal dysplasia,"AD OSMED|Stickler syndrome type 3|Stickler syndrome, non-ocular type" +GARD:0005023,Orphanet,ORPHA:3198,Disorder,Disease,Stiff person spectrum disorder,Moersch-Woltman syndrome|SMS|SPS|Stiff man syndrome +GARD:0005025,Orphanet,ORPHA:2833,Disorder,Disease,Stiff skin syndrome, +GARD:0005026,Orphanet,ORPHA:3199,Disorder,Malformation syndrome,Stimmler syndrome, +GARD:0005027,Orphanet,ORPHA:2972,Disorder,Malformation syndrome,Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome,Stoelinga-de Koomen-Davis syndrome +GARD:0005029,Orphanet,ORPHA:3200,Disorder,Malformation syndrome,Arthrogryposis-ectodermal dysplasia syndrome,Stoll-Alembik-Finck syndrome +GARD:0005034,Orphanet,ORPHA:734,Disorder,Disease,Alpha delta granule deficiency,Alpha dense granule deficiency|Combined alpha-delta platelet storage pool deficiency +GARD:0005036,Orphanet,ORPHA:1277,Disorder,Malformation syndrome,Brachydactyly-mesomelia-intellectual disability-heart defects syndrome,Stratton-Garcia-Young syndrome +GARD:0005040,Orphanet,ORPHA:1576,Group of disorders,Clinical group,Infantile bilateral striatal necrosis,IBSN|Infantile striatonigral degeneration|Infantile striatonigral necrosis +GARD:0005041,Orphanet,ORPHA:100984,Disorder,Disease,Autosomal dominant spastic paraplegia type 3,Strümpell disease +GARD:0005045,Orphanet,ORPHA:3206,Disorder,Malformation syndrome,Stüve-Wiedemann syndrome,Neonatal Schwartz-Jampel syndrome|SJS2|Schwartz-Jampel syndrome type 2|Stüve-Wiedemann dysplasia +GARD:0005049,Orphanet,ORPHA:102009,Group of disorders,Clinical group,Classic lissencephaly,Lissencephaly type 1 +GARD:0005050,Orphanet,ORPHA:101030,Subtype of disorder,Clinical subtype,Subependymal nodular heterotopia, +GARD:0005051,Orphanet,ORPHA:3190,Subtype of disorder,Clinical subtype,Subpulmonary stenosis, +GARD:0005053,Orphanet,ORPHA:3208,Disorder,Disease,Isolated succinate-CoQ reductase deficiency,Isolated mitochondrial respiratory chain complex II deficiency|Isolated succinate dehydrogenase deficiency|Isolated succinate-coenzyme Q reductase deficiency|Isolated succinate-ubiquinone reductase deficiency +GARD:0005058,Orphanet,ORPHA:498602,Disorder,Morphological anomaly,Sugarman brachydactyly,Sugarman-Hager-Kulik syndrome +GARD:0005061,Orphanet,ORPHA:585,Disorder,Disease,Multiple sulfatase deficiency,"Juvenile sulfatidosis, Austin type|MSD|Mucosulfatidosis" +GARD:0005062,Orphanet,ORPHA:99731,Subtype of disorder,Clinical subtype,Isolated sulfite oxidase deficiency,ISOD|Sulfocysteinuria +GARD:0005066,Orphanet,ORPHA:85275,Disorder,Malformation syndrome,Microphthalmia-ankyloblepharon-intellectual disability syndrome,MCOPS4|Syndromic microphthalmia type 4 +GARD:0005068,Orphanet,ORPHA:242,Disorder,Malformation syndrome,"46,XY complete gonadal dysgenesis","46,XY CGD|46,XY pure gonadal dysgenesis|Swyer syndrome" +GARD:0005070,Orphanet,ORPHA:1314,Disorder,Disease,Symmetrical thalamic calcifications,Bilateral symmetrical thalamic gliosis +GARD:0005074,Orphanet,ORPHA:3248,Disorder,Morphological anomaly,Distal symphalangism, +GARD:0005077,Orphanet,ORPHA:3246,Disorder,Malformation syndrome,Symphalangism with multiple anomalies of hands and feet,Learman syndrome +GARD:0005081,Orphanet,ORPHA:93402,Disorder,Morphological anomaly,Syndactyly type 1, +GARD:0005084,Orphanet,ORPHA:3258,Disorder,Malformation syndrome,Cenani-Lenz syndrome,Cenani syndactyly|Cenani-Lenz syndactyly|Syndactyly type 7 +GARD:0005087,Orphanet,ORPHA:93403,Disorder,Morphological anomaly,Syndactyly type 2,Synpolydactyly +GARD:0005088,Orphanet,ORPHA:93404,Disorder,Morphological anomaly,Syndactyly type 3,SD3|Syndactyly of fingers 4 and 5 +GARD:0005089,Orphanet,ORPHA:93406,Disorder,Morphological anomaly,Syndactyly type 5,Postaxial syndactyly with metacarpal synostosis|SD5 +GARD:0005090,Orphanet,ORPHA:3259,Disorder,Malformation syndrome,Syndactyly-polydactyly-ear lobe syndrome, +GARD:0005091,Orphanet,ORPHA:3263,Disorder,Malformation syndrome,Syngnathia-cleft palate syndrome, +GARD:0005092,Orphanet,ORPHA:3262,Disorder,Malformation syndrome,Dobrow syndrome,Syngnathia-multiple anomalies syndrome +GARD:0005100,Orphanet,ORPHA:840,Disorder,Disease,Syringocystadenoma papilliferum,Fistulous vegetative verrucous hydradenoma|Naevus syringocystadenomatosus papilliferus|Papillary syringocystadenoma|SCAP|Syringadenoma papilliferum +GARD:0005104,Orphanet,ORPHA:158,Disorder,Disease,Systemic primary carnitine deficiency,CDSP|CUD|Carnitine transporter defect|Carnitine uptake deficiency|Deficiency of plasma-membrane carnitine transporter|SPCD +GARD:0005116,Orphanet,ORPHA:3320,Disorder,Malformation syndrome,Thrombocytopenia-absent radius syndrome,TAR syndrome +GARD:0005120,Orphanet,ORPHA:2636,Disorder,Malformation syndrome,Microcephalic osteodysplastic primordial dwarfism types I and III,"MOPD types I and III|Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type|Primordial microcephalic dwarfism, Crachami type|Taybi-Linder syndrome" +GARD:0005121,Orphanet,ORPHA:90650,Disorder,Malformation syndrome,Otopalatodigital syndrome type 1,OPD I syndrome|OPD syndrome 1|Taybi syndrome +GARD:0005123,Orphanet,ORPHA:1094,Disorder,Malformation syndrome,Anonychia-microcephaly syndrome,Teebi-Kaurah syndrome +GARD:0005124,Orphanet,ORPHA:1974,Disorder,Malformation syndrome,Autosomal recessive faciodigitogenital syndrome,"Aarskog-like syndrome|Facio-digito-genital syndrome, Kuwait type|Teebi-Naguib-Alawadi syndrome" +GARD:0005125,Orphanet,ORPHA:3291,Disorder,Malformation syndrome,Teebi-Shaltout syndrome, +GARD:0005126,Orphanet,ORPHA:3368,Disorder,Malformation syndrome,Trigonocephaly-bifid nose-acral anomalies syndrome, +GARD:0005128,Orphanet,ORPHA:3292,Disorder,Malformation syndrome,Tel Hashomer camptodactyly syndrome,Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome +GARD:0005133,Orphanet,ORPHA:2885,Disorder,Malformation syndrome,Piebald trait-neurologic defects syndrome,Telfer-Sugar-Jaeger syndrome +GARD:0005135,Orphanet,ORPHA:98819,Disorder,Disease,Familial temporal lobe epilepsy, +GARD:0005138,Orphanet,ORPHA:137834,Disorder,Disease,Frank-Ter Haar syndrome,Ter Haar syndrome +GARD:0005140,Orphanet,ORPHA:180226,Disorder,Disease,Embryonal carcinoma, +GARD:0005144,Orphanet,ORPHA:3299,Disorder,Disease,Tetanus, +GARD:0005148,Orphanet,ORPHA:294971,Disorder,Morphological anomaly,Tetra-amelia,Total amelia +GARD:0005151,Orphanet,ORPHA:3305,Disorder,Malformation syndrome,Tetraploidy, +GARD:0005153,Orphanet,ORPHA:3306,Disorder,Malformation syndrome,Inverted duplicated chromosome 15 syndrome,Duplication/inversion 15q11|Inv dup (15) syndrome|Isodicentric chromosome 15 syndrome|Non-distal tetrasomy 15q|Non-telomeric tetrasomy 15q|idic (15) syndrome +GARD:0005158,Orphanet,ORPHA:1780,Disorder,Malformation syndrome,Thakker-Donnai syndrome,Dysmorphism-multiple structural anomalies syndrome +GARD:0005170,Orphanet,ORPHA:3235,Disorder,Malformation syndrome,Progressive deafness with stapes fixation,Progressive hearing loss with stapes fixation|Stapedo-vestibular ankylosis|Thies-Reis syndrome +GARD:0005175,Orphanet,ORPHA:3316,Disorder,Malformation syndrome,Thomas syndrome,Potter sequence-cleft lip/palate-cardiopathy syndrome +GARD:0005176,Orphanet,ORPHA:852,Subtype of disorder,Etiological subtype,X-linked thrombocytopenia with normal platelets, +GARD:0005177,Orphanet,ORPHA:2031,Disorder,Malformation syndrome,Hepatic fibrosis-renal cysts-intellectual disability syndrome,Thompson-Baraitser syndrome +GARD:0005180,Orphanet,ORPHA:1861,Disorder,Malformation syndrome,Thoracic dysplasia-hydrocephalus syndrome, +GARD:0005181,Orphanet,ORPHA:1759,Disorder,Malformation syndrome,Thoraco-abdominal enteric duplication, +GARD:0005184,Orphanet,ORPHA:3317,Disorder,Malformation syndrome,Thoracolaryngopelvic dysplasia,Barnes syndrome +GARD:0005186,Orphanet,ORPHA:530838,Disorder,Disease,KRT1-related diffuse nonepidermolytic keratoderma,KRT1-related diffuse NEPPK +GARD:0005188,Orphanet,ORPHA:3204,Disorder,Disease,Stormorken-Sjaastad-Langslet syndrome,Stormorken syndrome|Thrombocytopathy-asplenia-miosis syndrome +GARD:0005191,Orphanet+OMIM,OMIM:188000,Subtype of disorder,Etiological subtype,Thrombocytopenia 2,"Thrombocytopenia, autosomal dominant, 2" +GARD:0005194,Orphanet,ORPHA:3002,Disorder,Disease,Immune thrombocytopenia,ITP|Immune thrombocytopenic purpura +GARD:0005195,Orphanet,ORPHA:3324,Disorder,Disease,Familial thrombomodulin anomalies, +GARD:0005199,Orphanet,ORPHA:2251,Disorder,Malformation syndrome,Thumb deformity-alopecia-pigmentation anomaly syndrome,Sparse hair-short stature-skin anomalies syndrome +GARD:0005201,Orphanet,ORPHA:3398,Group of disorders,Category,Thymic epithelial neoplasm,TEN|Thymic epithelial tumor +GARD:0005202,Orphanet,ORPHA:3326,Disorder,Malformation syndrome,Thymic-renal-anal-lung dysplasia, +GARD:0005204,Orphanet,ORPHA:93953,Disorder,Morphological anomaly,Familial thyroglossal duct cyst, +GARD:0005206,Orphanet+OMIM,OMIM:188470,Subtype of disorder,Disease subtype,"Thyroid cancer, nonmedullary, 2", +GARD:0005210,Orphanet,ORPHA:3328,Disorder,Malformation syndrome,Absent tibia-polydactyly-arachnoid cyst syndrome,Holmes-Collins syndrome +GARD:0005216,Orphanet,ORPHA:297,Disorder,Disease,Tick-borne encephalitis,TBE +GARD:0005221,Orphanet,ORPHA:640,Disorder,Malformation syndrome,Hereditary neuropathy with liability to pressure palsies,Current pressure-sensitive neuropathy|HNPP|Heterozygous microdeletion 17p11.2p12|Potato-grubbing palsy|Tomaculous neuropathy|Tulip-bulb digger's palsy +GARD:0005225,Orphanet,ORPHA:3338,Disorder,Malformation syndrome,Toriello-Carey syndrome,Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome +GARD:0005230,Orphanet,ORPHA:3341,Disorder,Malformation syndrome,Torticollis-keloids-cryptorchidism-renal dysplasia syndrome, +GARD:0005231,Orphanet,ORPHA:293165,Disorder,Disease,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome +GARD:0005232,Orphanet,ORPHA:3344,Disorder,Malformation syndrome,Weismann-Netter syndrome,Anterior bowing of legs with dwarfism|WNS|Weismann-Netter-Stuhl syndrome +GARD:0005233,Orphanet,ORPHA:3346,Disorder,Morphological anomaly,Tracheal agenesis, +GARD:0005235,Orphanet,ORPHA:3348,Disorder,Disease,Tracheobronchopathia osteochondroplastica,Tracheopathia osteoplastica +GARD:0005237,Orphanet,ORPHA:293864,Disorder,Malformation syndrome,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome, +GARD:0005238,Orphanet,ORPHA:3052,Disorder,Disease,X-linked intellectual disability-seizures-psoriasis syndrome,Tranebjaerg-Svejgaard syndrome +GARD:0005243,Orphanet,ORPHA:1215,Disorder,Disease,Autosomal dominant optic atrophy plus syndrome,DOA+|Optic atrophy-deafness-polyneuropathy-myopathy syndrome|Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome +GARD:0005250,Orphanet,ORPHA:863,Disorder,Disease,Trichinellosis,Trichinosis +GARD:0005258,Orphanet,ORPHA:84064,Disorder,Disease,Syndromic diarrhea,Phenotypic diarrhea|SD/THE|Syndromic diarrhea/Tricho-hepato-enteric syndrome|Tricho-hepato-enteric syndrome|Trichohepatoenteric syndrome +GARD:0005261,Orphanet,ORPHA:3361,Disorder,Malformation syndrome,Trichodysplasia-xeroderma syndrome, +GARD:0005263,Orphanet,ORPHA:864,Disorder,Disease,Trichofolliculoma, +GARD:0005266,Orphanet,ORPHA:3363,Disorder,Malformation syndrome,Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,Long eyelashes-intellectual disability syndrome|Oliver-McFarlane syndrome +GARD:0005267,Orphanet,ORPHA:3355,Disorder,Malformation syndrome,Trichoodontoonychial dysplasia,Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region +GARD:0005270,Orphanet+OMIM,OMIM:601675,Subtype of disorder,Disease subtype,"Trichothiodystrophy 1, photosensitive","pibids syndrome|tay syndrome|trichothiodystrophy with congenital ichthyosis|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|Trichothiodystrophy, photosensitive" +GARD:0005271,Orphanet+OMIM,OMIM:234050,Subtype of disorder,Disease subtype,"Trichothiodystrophy 4, nonphotosensitive","trichothiodystrophy-neurocutaneous syndrome|bids syndrome|amish brittle hair brain syndrome|hair-brain syndrome|Trichothiodystrophy, nonphotosensitive 1|pollitt syndrome" +GARD:0005274,Orphanet,ORPHA:1209,Disorder,Morphological anomaly,Tricuspid atresia, +GARD:0005279,Orphanet,ORPHA:2995,Disorder,Malformation syndrome,Baraitser-Winter cerebrofrontofacial syndrome, +GARD:0005286,Orphanet,ORPHA:3374,Disorder,Morphological anomaly,Triopia, +GARD:0005287,Orphanet,ORPHA:868,Disorder,Disease,Triose phosphate-isomerase deficiency, +GARD:0005289,Orphanet,ORPHA:93336,Disorder,Morphological anomaly,Polydactyly of a triphalangeal thumb,PPD2|Preaxial polydactyly type 2 +GARD:0005290,Orphanet,ORPHA:2947,Disorder,Malformation syndrome,Triphalangeal thumbs-brachyectrodactyly syndrome,Carnevale-Hernández-del Castillo syndrome +GARD:0005295,Orphanet,ORPHA:3376,Disorder,Malformation syndrome,Triploidy, +GARD:0005299,Orphanet,ORPHA:171929,Disorder,Malformation syndrome,Trisomy 10p, +GARD:0005304,Orphanet,ORPHA:1698,Disorder,Malformation syndrome,Mosaic trisomy 12,Mosaic trisomy chromosome 12|Trisomy 12 mosaicism +GARD:0005305,Orphanet,ORPHA:1699,Disorder,Malformation syndrome,Trisomy 12p,Duplication 12p +GARD:0005313,Orphanet,ORPHA:1706,Disorder,Malformation syndrome,Mosaic trisomy 15,Mosaic trisomy chromosome 15|Trisomy 15 mosaicism +GARD:0005317,Orphanet,ORPHA:1711,Disorder,Malformation syndrome,Mosaic trisomy 17,Mosaic trisomy chromosome 17|Trisomy 17 mosaicism +GARD:0005318,Orphanet,ORPHA:261290,Disorder,Malformation syndrome,Trisomy 17p,Dup(17p) +GARD:0005323,Orphanet,ORPHA:1715,Disorder,Malformation syndrome,Trisomy 18p,Duplication 18p|Duplication of the short arm of chromosome 18|Trisomy of the short arm of chromosome 18 +GARD:0005331,Orphanet,ORPHA:1723,Disorder,Malformation syndrome,Mosaic trisomy 2,Mosaic trisomy chromosome 2|Trisomy 2 mosaicism +GARD:0005333,Orphanet,ORPHA:261318,Disorder,Malformation syndrome,Trisomy 20p,Dup(20p)|Duplication of 20p|Partial duplication of chromosome 20p|Partial duplication of the short arm of chromosome 20|Partial trisomy of chromosome 20p|Partial trisomy of the short arm of chromosome 20 +GARD:0005342,Orphanet,ORPHA:100071,Disorder,Malformation syndrome,Mosaic trisomy 3,Mosaic trisomy chromosome 3|Trisomy 3 mosaicism +GARD:0005354,Orphanet,ORPHA:1747,Disorder,Malformation syndrome,Mosaic trisomy 7,Mosaic trisomy chromosome 7|Trisomy 7 mosaicism +GARD:0005359,Orphanet,ORPHA:96061,Disorder,Malformation syndrome,Mosaic trisomy 8,Mosaic trisomy chromosome 8|Trisomy 8 mosaicism|Warkany syndrome +GARD:0005362,Orphanet,ORPHA:1752,Disorder,Malformation syndrome,Trisomy 8q,Duplication 8q +GARD:0005372,Orphanet,ORPHA:101000,Disorder,Disease,Autosomal recessive spastic paraplegia type 20,Childhood-onset spastic paraparesis-distal muscle wasting syndrome|SPG20|Troyer syndrome +GARD:0005388,Orphanet,ORPHA:3402,Disorder,Disease,Transient tyrosinemia of the newborn,Transient tyrosinemia of the neonate +GARD:0005392,Orphanet,ORPHA:79238,Disorder,Disease,Galactose epimerase deficiency,Epimerase deficiency galactosemia|GALE deficiency|GALE-D|Galactosemia type 3|UDP-galactose-4-epimerase deficiency|Uridine diphosphate galactose-4-epimerase deficiency +GARD:0005393,Orphanet,ORPHA:3403,Disorder,Morphological anomaly,Uhl anomaly, +GARD:0005394,Orphanet,ORPHA:3404,Disorder,Malformation syndrome,Ulbright-Hodes syndrome,Renal dysplasia-limb defects syndrome|Renal dysplasia-mesomelia-radiohumeral fusion syndrome +GARD:0005395,Orphanet,ORPHA:3406,Disorder,Disease,Ulerythema ophryogenesis, +GARD:0005398,Orphanet,ORPHA:2249,Disorder,Malformation syndrome,Ulna hypoplasia-intellectual disability syndrome, +GARD:0005400,Orphanet,ORPHA:1122,Disorder,Malformation syndrome,Ulnar hypoplasia-split foot syndrome,Ulnar hypoplasia-lobster-claw deformity of feet syndrome|Van den Berghe-Dequecker syndrome +GARD:0005403,Orphanet,ORPHA:3405,Disorder,Malformation syndrome,Umbilical cord ulceration-intestinal atresia syndrome, +GARD:0005404,Orphanet,ORPHA:1410,Disorder,Disease,Uncombable hair syndrome,Pili trianguli et canaliculi +GARD:0005408,Orphanet,ORPHA:97685,Subtype of disorder,Clinical subtype,17q11 microdeletion syndrome,Del(17)(q11)|Monosomy 17q11|NF1 microdeletion syndrome|Neurofibromatosis type 1 microdeletion syndrome +GARD:0005409,Orphanet,ORPHA:96334,Subtype of disorder,Etiological subtype,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,UPD(14)pat +GARD:0005421,Orphanet,ORPHA:3408,Disorder,Malformation syndrome,Upington disease,Hip dysplasia-enchondromata-ecchondroma syndrome +GARD:0005425,Orphanet,ORPHA:488,Disorder,Morphological anomaly,Urachal cyst, +GARD:0005426,Orphanet,ORPHA:3409,Disorder,Malformation syndrome,Urban-Rogers-Meyer syndrome,Intellectual disability-short stature-hand contractures-genital anomalies syndrome|Prader-Willi habitus-osteopenia-camptodactyly syndrome +GARD:0005427,Orphanet,ORPHA:1839,Disorder,Malformation syndrome,Hereditary mucoepithelial dysplasia,Urban-Schosser-Spohn syndrome +GARD:0005429,Orphanet,ORPHA:30,Disorder,Disease,Hereditary orotic aciduria,Orotidylic decarboxylase deficiency|Uridine monophosphate synthetase deficiency +GARD:0005430,Orphanet,ORPHA:1655,Disorder,Malformation syndrome,Müllerian derivatives-lymphangiectasia-polydactyly syndrome,Urioste syndrome +GARD:0005435,Orphanet,ORPHA:231169,Subtype of disorder,Clinical subtype,Usher syndrome type 1,USH1 +GARD:0005436,Orphanet+OMIM,OMIM:276900,Subtype of disorder,Clinical subtype,"Usher syndrome, type i",retinitis pigmentosa and congenital deafness|Us1 +GARD:0005437,Orphanet+OMIM,OMIM:276904,Subtype of disorder,Clinical subtype,"Usher syndrome, type ic","Usher syndrome, type i, acadian variety" +GARD:0005438,Orphanet+OMIM,OMIM:601067,Subtype of disorder,Clinical subtype,"Usher syndrome, type id", +GARD:0005439,Orphanet+OMIM,OMIM:602097,Subtype of disorder,Clinical subtype,"Usher syndrome, type ie", +GARD:0005440,Orphanet,ORPHA:231178,Subtype of disorder,Clinical subtype,Usher syndrome type 2,USH2 +GARD:0005442,Orphanet,ORPHA:231183,Subtype of disorder,Clinical subtype,Usher syndrome type 3,USH3 +GARD:0005443,Orphanet,ORPHA:887,Disorder,Malformation syndrome,VACTERL/VATER association,VACTERL association|VATER association +GARD:0005445,Orphanet,ORPHA:3109,Disorder,Malformation syndrome,Mayer-Rokitansky-Küster-Hauser syndrome,MRKH syndrome|Rokitansky syndrome +GARD:0005447,Orphanet,ORPHA:1906,Disorder,Malformation syndrome,Fetal valproate spectrum disorder,Fetal valproate syndrome|Fetal valproic acid syndrome|Valproic acid embryopathy +GARD:0005453,Orphanet,ORPHA:3417,Disorder,Malformation syndrome,Van den Bosch syndrome, +GARD:0005456,Orphanet,ORPHA:314679,Disorder,Malformation syndrome,Cerebrofacioarticular syndrome,Van Maldergem syndrome +GARD:0005461,Orphanet,ORPHA:48,Disorder,Morphological anomaly,Congenital bilateral absence of vas deferens,Congenital bilateral agenesis of vas deferens|Congenital bilateral aplasia of vas deferens +GARD:0005467,Orphanet,ORPHA:1053,Disorder,Morphological anomaly,Vein of Galen aneurysmal malformation,Vein of Galen arteriovenous malformations +GARD:0005469,Orphanet,ORPHA:3424,Disorder,Malformation syndrome,Velo-facial-skeletal syndrome, +GARD:0005470,Orphanet,ORPHA:2291,Disorder,Morphological anomaly,Congenital velopharyngeal incompetence, +GARD:0005472,Orphanet,ORPHA:3201,Disorder,Malformation syndrome,Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome,Stoll-Kieny-Dott syndrome +GARD:0005476,Orphanet,ORPHA:860,Disorder,Morphological anomaly,Congenitally uncorrected transposition of the great arteries,Congenitally uncorrected transposition of the great vessels|D-transposition of the great arteries|Dextro-transposition of the great arteries|Isolated ventriculoarterial discordance|Ventriculoarterial discordance with atrioventricular concordance +GARD:0005478,Orphanet,ORPHA:2899,Disorder,Malformation syndrome,Brachyolmia-amelogenesis imperfecta syndrome,Platyspondyly-amelogenesis imperfecta syndrome|Verloes-Bourguignon syndrome +GARD:0005481,Orphanet,ORPHA:2551,Disorder,Malformation syndrome,Microspherophakia-metaphyseal dysplasia syndrome,Verloes-Van Maldergem-de Marneffe syndrome +GARD:0005482,Orphanet,ORPHA:3429,Disorder,Malformation syndrome,Verloove Vanhorick-Brubakk syndrome,Cleft lip-limb and heart malformations syndrome +GARD:0005484,Orphanet,ORPHA:79466,Subtype of disorder,Clinical subtype,Inflammatory linear verrucous epidermal nevus,ILVEN +GARD:0005485,Orphanet,ORPHA:79468,Subtype of disorder,Clinical subtype,Acanthokeratolytic verrucous nevus, +GARD:0005488,Orphanet,ORPHA:178382,Disorder,Morphological anomaly,Congenital vertical talus,Congenital convex foot|Congenital convex pes valgus|Congenital rocker-bottom foot +GARD:0005490,Orphanet,ORPHA:3433,Disorder,Malformation syndrome,Microcephaly-brachydactyly-kyphoscoliosis syndrome,Viljoen-Kallis-Voges syndrome +GARD:0005494,Orphanet,ORPHA:341,Group of disorders,Category,Viral hemorrhagic fever, +GARD:0005495,Orphanet,ORPHA:99916,Disorder,Disease,Malignant Sertoli-Leydig cell tumor of the ovary,Androblastoma|Arrhenoblastoma|Ovarian Sertoli-Leydig cell cancer|Ovarian malignant Sertoli-Leydig cell tumor|Virilizing ovarian tumor +GARD:0005496,Orphanet,ORPHA:1876,Disorder,Disease,Oculogastrointestinal muscular dystrophy,Visceral myopathy-familial external ophthalmoplegia syndrome +GARD:0005500,Orphanet,ORPHA:79310,Subtype of disorder,Clinical subtype,Vitamin B12-responsive methylmalonic acidemia type cblA,Vitamin B12-responsive methylmalonic aciduria type cblA +GARD:0005507,Orphanet,ORPHA:3086,Disorder,Disease,Autosomal dominant vitreoretinochoroidopathy,ADVIRC +GARD:0005508,Orphanet,ORPHA:26793,Disorder,Disease,Very long chain acyl-CoA dehydrogenase deficiency,VLCAD deficiency|VLCADD +GARD:0005509,Orphanet,ORPHA:2808,Disorder,Malformation syndrome,Laryngeal abductor paralysis,Familial vocal cord dysfunction|Gerhardt syndrome +GARD:0005513,Orphanet,ORPHA:2578,Subtype of disorder,Clinical subtype,Mayer-Rokitansky-Küster-Hauser syndrome type 2,Atypical MRKH syndrome|MRKH syndrome type 2|MURCS association|Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome +GARD:0005518,Orphanet,ORPHA:2180,Disorder,Malformation syndrome,Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome,Ferlini-Ragno-Calzolari syndrome|Waaler-Aarskog syndrome +GARD:0005519,Orphanet,ORPHA:894,Subtype of disorder,Clinical subtype,Waardenburg syndrome type 1,WS1|Waardenburg syndrome type I +GARD:0005520,Orphanet,ORPHA:895,Subtype of disorder,Clinical subtype,Waardenburg syndrome type 2,WS2|Waardenburg syndrome type II +GARD:0005522,Orphanet+OMIM,OMIM:600193,Subtype of disorder,Clinical subtype,"Waardenburg syndrome, type 2b", +GARD:0005523,Orphanet,ORPHA:896,Subtype of disorder,Clinical subtype,Waardenburg syndrome type 3,Klein-Waardenburg syndrome|WS3|Waardenburg syndrome type III|Waardenburg syndrome with limb anomalies +GARD:0005524,Orphanet,ORPHA:897,Disorder,Disease,Waardenburg-Shah syndrome,Shah-Waardenburg syndrome|WS4|Waardenburg syndrome type 4|Waardenburg-Hirschsprung syndrome +GARD:0005525,Orphanet,ORPHA:3440,Disorder,Disease,Waardenburg syndrome, +GARD:0005528,Orphanet,ORPHA:893,Disorder,Malformation syndrome,WAGR syndrome,Del(11)(p13)|Deletion 11p13|Monosomy 11p13|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome +GARD:0005530,Orphanet,ORPHA:1068,Disorder,Malformation syndrome,Aniridia-intellectual disability syndrome,Walker-Dyson syndrome +GARD:0005532,Orphanet,ORPHA:1453,Disorder,Malformation syndrome,Cleidorhizomelic syndrome,Rhizomelic shortness with clavicular defect|Wallis-Zieff-Goldblatt syndrome +GARD:0005534,Orphanet,ORPHA:2510,Disorder,Malformation syndrome,Micro syndrome,WARBM|Warburg micro syndrome +GARD:0005535,Orphanet,ORPHA:3214,Disorder,Malformation syndrome,"Deaf blind hypopigmentation syndrome, Yemenite type",Warburg-Thomsen syndrome|Yemenite deaf-blind hypopigmentation syndrome +GARD:0005538,Orphanet,ORPHA:1541,Disorder,Malformation syndrome,"Craniosynostosis, Boston type","Craniosynostosis, Warman type|Warman-Mulliken-Hayward syndrome" +GARD:0005539,Orphanet,ORPHA:1827,Disorder,Malformation syndrome,Acromelic frontonasal dysplasia,AFND|Acromelic frontonasal dysostosis|Toriello syndrome +GARD:0005545,Orphanet,ORPHA:3448,Disorder,Malformation syndrome,Weaver-Williams syndrome, +GARD:0005552,Orphanet,ORPHA:603,Disorder,Disease,"Distal myopathy, Welander type",WDM +GARD:0005554,Orphanet,ORPHA:1373,Disorder,Malformation syndrome,Cataract-aberrant oral frenula-growth delay syndrome,Wellesley-Carman-French syndrome +GARD:0005555,Orphanet,ORPHA:2815,Disorder,Malformation syndrome,Spastic paraparesis-deafness syndrome,Spastic paraparesis-hearing loss syndrome|Wells-Jankovic syndrome +GARD:0005560,Orphanet,ORPHA:3207,Disorder,Malformation syndrome,White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,Curatolo-Cilio-Pessagno syndrome +GARD:0005562,Orphanet,ORPHA:2779,Disorder,Malformation syndrome,Osteopathia striata-pigmentary dermopathy-white forelock syndrome,Whyte-Murphy syndrome +GARD:0005565,Orphanet,ORPHA:319182,Disorder,Malformation syndrome,Wiedemann-Steiner syndrome,Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome +GARD:0005569,Orphanet,ORPHA:3456,Disorder,Malformation syndrome,Wildervanck syndrome,Cervicooculoacoustic syndrome +GARD:0005573,Orphanet,ORPHA:99147,Disorder,Disease,Acquired von Willebrand syndrome,Acquired von Willebrand disease +GARD:0005575,Orphanet,ORPHA:739,Disorder,Disease,Prader-Willi syndrome,Prader-Labhart-Willi syndrome +GARD:0005576,Orphanet,ORPHA:220,Disorder,Disease,Denys-Drash syndrome,Drash syndrome|Wilms tumor-DSD syndrome|Wilms tumor-disorder of sex development syndrome +GARD:0005579,Orphanet,ORPHA:3459,Disorder,Malformation syndrome,Wilson-Turner syndrome,WTS|X-linked intellectual disability-gynecomastia-obesity syndrome +GARD:0005584,Orphanet,ORPHA:1553,Disorder,Malformation syndrome,Curry-Jones syndrome,Corpus callosum agenesis-polysyndactyly syndrome +GARD:0005587,Orphanet,ORPHA:2228,Disorder,Malformation syndrome,Hypodontia-dysplasia of nails syndrome,Hypodontia-nail dysgenesis syndrome|Tooth and nail syndrome|Witkop syndrome +GARD:0005589,Orphanet,ORPHA:1667,Disorder,Disease,Wolcott-Rallison syndrome,Early-onset diabetes mellitus with multiple epiphyseal dysplasia|WRS +GARD:0005592,Orphanet,ORPHA:3464,Disorder,Disease,Woodhouse-Sakati syndrome,Diabetes-hypogonadism-deafness-intellectual disability syndrome|Diabetes-hypogonadism-hearing loss-intellectual disability syndrome +GARD:0005593,Orphanet+OMIM,OMIM:600546,Subtype of disorder,Malformation syndrome subtype,Intrauterine growth retardation with increased mitomycin c sensitivity, +GARD:0005595,Orphanet,ORPHA:65282,Disorder,Disease,Carvajal syndrome,KWWH type II|Keratoderma with woolly hair type II|Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome|Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome +GARD:0005597,Orphanet,ORPHA:170,Disorder,Disease,Woolly hair,Familial woolly hair syndrome|Familial wooly hair syndrome|Hereditary woolly hair syndrome|Hereditary wooly hair syndrome|Wooly hair +GARD:0005598,Orphanet,ORPHA:3465,Disorder,Malformation syndrome,Worster-Drought syndrome,Congenital suprabulbar paresis +GARD:0005611,Orphanet,ORPHA:3078,Disorder,Malformation syndrome,"Severe X-linked intellectual disability, Gustavson type", +GARD:0005613,Orphanet+OMIM,OMIM:300387,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 63","mental retardation, x-linked 68|Mental retardation, x-linked 63" +GARD:0005614,Orphanet+OMIM,OMIM:300419,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 29","mental retardation, x-linked 32|mental retardation, x-linked 76|mental retardation, x-linked 38|mental retardation, x-linked 87|Mental retardation, x-linked 29|mental retardation, x-linked 43|mental retardation, x-linked 54|mental retardation, x-linked 33|mental retardation, x-linked 52" +GARD:0005615,Orphanet,ORPHA:3063,Disorder,Disease,"X-linked intellectual disability, Snyder type",Snyder-Robinson syndrome +GARD:0005617,Orphanet,ORPHA:59,Disorder,Disease,Allan-Herndon-Dudley syndrome,AHDS|MCT8 deficiency|Monocarboxylate transporter 8 deficiency|X-linked intellectual disability-hypotonia syndrome +GARD:0005618,Orphanet,ORPHA:276,Disorder,Disease,T-B+ severe combined immunodeficiency due to gamma chain deficiency,"SCIDX1|T-B+ SCID due to gamma chain deficiency|T-B+ severe combined immunodeficiency, X-linked" +GARD:0005620,Orphanet,ORPHA:93602,Subtype of disorder,Etiological subtype,Xanthinuria type II,XDH and AOX dual deficiency|Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency +GARD:0005621,Orphanet,ORPHA:93601,Subtype of disorder,Etiological subtype,Xanthinuria type I,XDH deficiency|XO deficiency|XOR deficiency|Xanthine dehydrogenase deficiency|Xanthine oxidase deficiency|Xanthine oxidoreductase deficiency +GARD:0005622,Orphanet,ORPHA:909,Disorder,Disease,Cerebrotendinous xanthomatosis,CTX|Sterol 27-hydroxylase deficiency +GARD:0005623,Orphanet,ORPHA:3202,Disorder,Disease,Dehydrated hereditary stomatocytosis,Hereditary xerocytosis +GARD:0005624,Orphanet+OMIM,OMIM:278700,Subtype of disorder,Disease subtype,"Xeroderma pigmentosum, complementation group a","xeroderma pigmentosum i|Xp, group a" +GARD:0005625,Orphanet+OMIM,OMIM:610651,Subtype of disorder,Disease subtype,"Xeroderma pigmentosum, complementation group b","Xp, group b" +GARD:0005626,Orphanet+OMIM,OMIM:278720,Subtype of disorder,Disease subtype,"Xeroderma pigmentosum, complementation group c","xeroderma pigmentosum iii|Xpcc|xp, group c" +GARD:0005627,Orphanet+OMIM,OMIM:278740,Subtype of disorder,Disease subtype,"Xeroderma pigmentosum, complementation group e","xp, group e|xeroderma pigmentosum v|Xpe" +GARD:0005628,Orphanet+OMIM,OMIM:278760,Subtype of disorder,Disease subtype,"Xeroderma pigmentosum, complementation group f","Xp, group f|xeroderma pigmentosum vi" +GARD:0005629,Orphanet+OMIM,OMIM:278780,Subtype of disorder,Clinical subtype|Disease subtype,"Xeroderma pigmentosum, complementation group g","Xp, group g|xeroderma pigmentosum vii" +GARD:0005630,Orphanet,ORPHA:90342,Disorder,Disease,Xeroderma pigmentosum variant,XPV +GARD:0005642,Orphanet,ORPHA:916,Disorder,Malformation syndrome,Aase-Smith syndrome,Aase-Smith I syndrome|Hydrocephalus-cleft palate-joint contractures syndrome +GARD:0005643,Orphanet,ORPHA:101,Disorder,Disease,Dentatorubral pallidoluysian atrophy,DRPLA|Dentatorubropallidoluysian atrophy|Naito-Oyanagi disease +GARD:0005644,Orphanet+OMIM,OMIM:601154,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1e","Cardiomyopathy, dilated, with conduction disorder and arrhythmia|cardiomyopathy, dilated, with conduction defect 2" +GARD:0005648,Orphanet,ORPHA:166409,Disorder,Disease,Photosensitive epilepsy, +GARD:0005653,Orphanet,ORPHA:251576,Subtype of disorder,Histopathological subtype,Gliosarcoma, +GARD:0005654,Orphanet,ORPHA:163699,Disorder,Disease,Alveolar soft tissue sarcoma,ASPS|Alveolar soft part sarcoma +GARD:0005657,Orphanet,ORPHA:42642,Disorder,Disease,PFAPA syndrome,Marshall syndrome with periodic fever|Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome +GARD:0005658,Orphanet,ORPHA:90795,Disorder,Disease,Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,CAH due to 11-beta-hydroxylase deficiency|CYP11B1 deficiency +GARD:0005659,Orphanet,ORPHA:752,Disorder,Disease,"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",17-beta-hydroxysteroid dehydrogenase 3 deficiency|17-ketoreductase deficiency|17-ketosteroidreductase deficiency +GARD:0005661,Orphanet,ORPHA:79315,Disorder,Disease,D-2-hydroxyglutaric aciduria,D-2-HGA|D-2-hydroxyglutaric acidemia +GARD:0005662,Orphanet,ORPHA:939,Disorder,Disease,3-hydroxyisobutyric aciduria, +GARD:0005663,Orphanet,ORPHA:67047,Disorder,Disease,3-methylglutaconic aciduria type 3,Autosomal recessive optic atrophy plus syndrome|Autosomal recessive optic atrophy type 3|Costeff optic atrophy syndrome|Costeff syndrome|Infantile optic atrophy with chorea and spastic paraplegia|MGA3 +GARD:0005665,Orphanet+OMIM,OMIM:210200,Subtype of disorder,Disease subtype,3-methylcrotonyl-coa carboxylase 1 deficiency,mcc1 deficiency|methylcrotonylglycinuria type i|Mccd type 1|3-methylcrotonylglycinuria i +GARD:0005666,Orphanet,ORPHA:7,Disorder,Malformation syndrome,3C syndrome,Craniocerebellocardiac dysplasia|Ritscher-Schinzel syndrome +GARD:0005667,Orphanet,ORPHA:2616,Disorder,Malformation syndrome,3M syndrome,3-M syndrome|Yakut short stature syndrome +GARD:0005668,Orphanet,ORPHA:2118,Disorder,Disease,Hawkinsinuria,4-HPPD deficiency|4-alpha-hydroxyphenylpyruvate hydroxylase deficiency|4-hydroxyphenylpyruvic acid dioxygenase deficiency +GARD:0005671,Orphanet,ORPHA:243,Disorder,Malformation syndrome,"46,XX gonadal dysgenesis","46,XX complete gonadal dysgenesis|46,XX ovarian dysgenesis|46,XX pure gonadal dysgenesis|FSH-RO|Follicular stimulating hormone-resistant ovaries|Hypergonadotropic ovarian dysgenesis|XX female gonadal dysgenesis|XX-GD" +GARD:0005672,Orphanet,ORPHA:3375,Disorder,Malformation syndrome,Trisomy X,"47,XXX syndrome|Triple X syndrome|Triplo-X syndrome|XXX syndrome" +GARD:0005674,Orphanet,ORPHA:8,Disorder,Malformation syndrome,"47,XYY syndrome",Double Y syndrome|XYY syndrome|Y disomy +GARD:0005676,Orphanet,ORPHA:96263,Disorder,Malformation syndrome,"48,XXXY syndrome", +GARD:0005677,Orphanet,ORPHA:10,Disorder,Malformation syndrome,"48,XXYY syndrome", +GARD:0005678,Orphanet,ORPHA:11,Disorder,Malformation syndrome,Pentasomy X,"49,XXXXX syndrome|Penta-X|Poly-X" +GARD:0005679,Orphanet,ORPHA:96264,Disorder,Malformation syndrome,"49,XXXXY syndrome", +GARD:0005680,Orphanet,ORPHA:753,Disorder,Disease,"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency","46,XY DSD due to 5-alpha-reductase 2 deficiency|Pseudovaginal perineoscrotal hypospadias|Steroid 5-alpha-reductase 2 deficiency" +GARD:0005681,Orphanet,ORPHA:33572,Disorder,Disease,5-oxoprolinase deficiency,Oxoprolinuria due to oxoprolinase deficiency +GARD:0005682,Orphanet,ORPHA:13,Subtype of disorder,Clinical subtype,6-pyruvoyl-tetrahydropterin synthase deficiency,Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency +GARD:0005683,Orphanet,ORPHA:818,Disorder,Malformation syndrome,Smith-Lemli-Opitz syndrome,7-dehydrocholesterol reductase deficiency|RSH syndrome|SLOS +GARD:0005686,Orphanet,ORPHA:371,Disorder,Disease,Glycogen storage disease due to muscle phosphofructokinase deficiency,GSD due to muscle phosphofructokinase deficiency|GSD type 7|GSD type VII|Glycogen storage disease type 7|Glycogen storage disease type VII|Glycogenosis due to muscle phosphofructokinase deficiency|Glycogenosis type 7|Glycogenosis type VII|Tarui disease +GARD:0005688,Orphanet,ORPHA:1777,Disorder,Malformation syndrome,Temtamy syndrome,Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|Temtamy-Shalash syndrome +GARD:0005691,Orphanet,ORPHA:773,Disorder,Disease,Refsum disease,Adult Refsum disease|Classic Refsum disease|HMSN 4|HMSN IV|Hereditary motor and sensory neuropathy type 4|Hereditary motor and sensory neuropathy type IV|Heredopathia atactica polyneuritiformis|Phytanic-CoA hydroxylase deficiency +GARD:0005692,Orphanet,ORPHA:90797,Disorder,Disease,Partial androgen insensitivity syndrome,PAIS|Partial androgen resistance syndrome +GARD:0005693,Orphanet,ORPHA:29207,Disorder,Disease,Reactive arthritis,Arthritis urethritica|Fiessinger-Leroy disease|Polyarthritis enterica|Venereal arthritis +GARD:0005694,Orphanet,ORPHA:791,Disorder,Disease,Retinitis pigmentosa, +GARD:0005695,Orphanet,ORPHA:90050,Disorder,Disease,Retinopathy of prematurity,ROP|Retrolental fibroplasia +GARD:0005696,Orphanet,ORPHA:778,Disorder,Disease,Rett syndrome, +GARD:0005697,Orphanet+OMIM,OMIM:228800,Subtype of disorder,Clinical subtype,"Fibrosclerosis, multifocal","Mediastinal fibrosis, familial|retroperitoneal fibrosis, familial" +GARD:0005699,Orphanet,ORPHA:3099,Disorder,Disease,Rheumatic fever,Acute rheumatic fever +GARD:0005701,Orphanet,ORPHA:782,Disorder,Malformation syndrome,Axenfeld-Rieger syndrome,Axenfeld syndrome|Rieger syndrome +GARD:0005708,Orphanet,ORPHA:930,Disorder,Disease,Idiopathic achalasia,Achalasia cardia|Idiopathic achalasia of esophagus|Primary achalasia +GARD:0005714,Orphanet,ORPHA:365,Disorder,Disease,Glycogen storage disease due to acid maltase deficiency,"Alpha-1,4-glucosidase acid deficiency|GSD due to acid maltase deficiency|GSD type 2|GSD type II|Glycogen storage disease type 2|Glycogen storage disease type II|Glycogenosis due to acid maltase deficiency|Glycogenosis type 2|Glycogenosis type II|Pompe disease" +GARD:0005721,Orphanet,ORPHA:36,Disorder,Malformation syndrome,Acrocallosal syndrome,ACS +GARD:0005723,Orphanet,ORPHA:37,Disorder,Disease,Acrodermatitis enteropathica,"AEZ|Acrodermatitis enteropathica, zinc deficiency type|Inherited zinc deficiency" +GARD:0005724,Orphanet,ORPHA:950,Disorder,Malformation syndrome,Acrodysostosis,Acrodysplasia|Arkless-Graham syndrome|Maroteaux-Malamut syndrome +GARD:0005725,Orphanet,ORPHA:963,Disorder,Disease,Acromegaly, +GARD:0005727,Orphanet,ORPHA:199296,Disorder,Disease,Congenital isolated ACTH deficiency, +GARD:0005728,Orphanet,ORPHA:457095,Disorder,Disease,Actinomycosis, +GARD:0005732,Orphanet,ORPHA:79276,Disorder,Disease,Acute intermittent porphyria, +GARD:0005739,Orphanet,ORPHA:974,Disorder,Malformation syndrome,Adams-Oliver syndrome,"AOS|Congenital scalp defects with distal limb anomalies|Congenital scalp defects with distal limb reduction anomalies|Limb, scalp and skull defects" +GARD:0005740,Orphanet,ORPHA:85138,Disorder,Disease,Addison disease,Autoimmune Addison disease|Autoimmune adrenalitis|Classic Addison disease|Primary Addison disease +GARD:0005747,Orphanet,ORPHA:314419,Disorder,Disease,Ameloblastoma, +GARD:0005748,Orphanet,ORPHA:277,Disorder,Disease,Severe combined immunodeficiency due to adenosine deaminase deficiency,ADA deficiency|SCID due to adenosine deaminase deficiency +GARD:0005749,Orphanet,ORPHA:454718,Disorder,Disease,Holmes-Adie syndrome,Adie syndrome|Tonic pupil-tendon areflexia syndrome +GARD:0005750,Orphanet,ORPHA:36397,Disorder,Disease,Adiposis dolorosa,Adiposalgia|Adipose tissue rheumatism|Dercum disease|Lipomatosis dolorosa +GARD:0005758,Orphanet,ORPHA:43,Disorder,Disease,X-linked adrenoleukodystrophy,ALD|X-ALD|X-linked ALD +GARD:0005761,Orphanet,ORPHA:98880,Subtype of disorder,Clinical subtype,Familial afibrinogenemia, +GARD:0005764,Orphanet,ORPHA:50,Disorder,Disease,Aicardi syndrome,Agenesis of corpus callosum with chorioretinal abnormality +GARD:0005770,Orphanet,ORPHA:457059,Group of disorders,Clinical group,Pseudohypoparathyroidism with Albright hereditary osteodystrophy, +GARD:0005774,Orphanet,ORPHA:58,Disorder,Disease,Alexander disease,AxD +GARD:0005775,Orphanet,ORPHA:56,Disorder,Disease,Alkaptonuria,Hereditary ochronosis|Homogentisic acid oxidase deficiency +GARD:0005783,Orphanet,ORPHA:726,Disorder,Disease,Alpers-Huttenlocher syndrome,Alpers progressive sclerosing poliodystrophy|Alpers syndrome|Progressive neuronal degeneration of childhood with liver disease +GARD:0005784,Orphanet,ORPHA:60,Disorder,Disease,Alpha-1-antitrypsin deficiency,Alpha-1-proteinase inhibitor deficiency|Alpha1-antitrypsin deficiency +GARD:0005785,Orphanet,ORPHA:63,Disorder,Disease,Alport syndrome,Alport deafness-nephropathy|Alport hearing loss-nephropathy +GARD:0005786,Orphanet,ORPHA:803,Disorder,Disease,Amyotrophic lateral sclerosis,ALS|Charcot disease|Lou Gehrig disease +GARD:0005787,Orphanet,ORPHA:64,Disorder,Disease,Alström syndrome, +GARD:0005791,Orphanet,ORPHA:88661,Disorder,Disease,Amelogenesis imperfecta, +GARD:0005797,Orphanet,ORPHA:85443,Disorder,Disease,AL amyloidosis,Light-chain amyloidosis|Primary amyloidosis +GARD:0005802,Orphanet,ORPHA:90652,Disorder,Malformation syndrome,Otopalatodigital syndrome type 2,OPD II syndrome|OPD syndrome 2 +GARD:0005803,Orphanet,ORPHA:754,Group of disorders,Clinical group,Androgen insensitivity syndrome,AIS|Androgen resistance syndrome|Goldberg-Maxwell syndrome|Morris syndrome|Testicular feminization syndrome +GARD:0005808,Orphanet,ORPHA:1048,Disorder,Morphological anomaly,Isolated anencephaly/exencephaly, +GARD:0005810,Orphanet,ORPHA:72,Disorder,Malformation syndrome,Angelman syndrome, +GARD:0005816,Orphanet,ORPHA:250923,Disorder,Morphological anomaly,Isolated aniridia, +GARD:0005818,Orphanet,ORPHA:99797,Disorder,Morphological anomaly,Anodontia, +GARD:0005819,Orphanet,ORPHA:325124,Disorder,Morphological anomaly,Testicular agenesis,Bilateral anorchia +GARD:0005824,Orphanet,ORPHA:80,Disorder,Disease,Antiphospholipid syndrome,APLS|Antiphospholipid antibody syndrome|Classic APLS|Classic antiphospholipid syndrome|Hughes syndrome +GARD:0005826,Orphanet,ORPHA:83,Disorder,Malformation syndrome,Antley-Bixler syndrome, +GARD:0005828,Orphanet,ORPHA:1457,Disorder,Morphological anomaly,Aorta coarctation, +GARD:0005833,Orphanet,ORPHA:87,Disorder,Malformation syndrome,Apert syndrome,ACS1|Acrocephalosyndactyly type 1 +GARD:0005835,Orphanet,ORPHA:1114,Disorder,Malformation syndrome,Aplasia cutis congenita, +GARD:0005836,Orphanet,ORPHA:88,Disorder,Disease,Idiopathic aplastic anemia,Idiopathic bone marrow failure +GARD:0005839,Orphanet,ORPHA:137817,Disorder,Disease,Arachnoiditis,Adhesive arachnoiditis|Chronic arachnoiditis +GARD:0005840,Orphanet,ORPHA:90,Disorder,Disease,Argininemia,Arginase deficiency|Hyperargininemia +GARD:0005843,Orphanet,ORPHA:23,Disorder,Disease,Argininosuccinic aciduria,ASA deficiency|ASL deficiency|Argininosuccinase deficiency|Argininosuccinatelyase deficiency|Argininosuccinic acid lyase deficiency +GARD:0005847,Orphanet,ORPHA:247,Group of disorders,Clinical group,Arrhythmogenic right ventricular cardiomyopathy,ARVC|ARVD|Arrhythmogenic right ventricular dysplasia +GARD:0005852,Orphanet,ORPHA:2302,Disorder,Disease,Asbestos intoxication,Asbestosis +GARD:0005853,Orphanet,ORPHA:137686,Disorder,Disease,Asherman syndrome, +GARD:0005854,Orphanet,ORPHA:93,Disorder,Disease,Aspartylglucosaminuria,Aspartylglucosaminidase deficiency +GARD:0005856,Orphanet,ORPHA:1163,Disorder,Disease,Aspergillosis, +GARD:0005860,Orphanet,ORPHA:251589,Disorder,Disease,Anaplastic astrocytoma, +GARD:0005862,Orphanet,ORPHA:100,Disorder,Disease,Ataxia-telangiectasia,Louis-Bar syndrome +GARD:0005864,Orphanet,ORPHA:847,Disorder,Malformation syndrome,Alpha-thalassemia-X-linked intellectual disability syndrome,ATR-X syndrome +GARD:0005865,Orphanet,ORPHA:99103,Subtype of disorder,Clinical subtype,"Atrial septal defect, ostium secundum type","ASD, ostium secundum type" +GARD:0005867,Orphanet,ORPHA:79088,Group of disorders,Clinical group,Localized lipodystrophy, +GARD:0005870,Orphanet,ORPHA:98375,Group of disorders,Clinical group,Autoimmune hemolytic anemia,AHA|AIHA +GARD:0005871,Orphanet,ORPHA:2137,Disorder,Disease,Autoimmune hepatitis,AIH +GARD:0005878,Orphanet,ORPHA:108,Disorder,Disease,Babesiosis, +GARD:0005885,Orphanet,ORPHA:228165,Disorder,Disease,Baló concentric sclerosis,Concentric demyelination +GARD:0005887,Orphanet,ORPHA:109,Disorder,Malformation syndrome,Bannayan-Riley-Ruvalcaba syndrome,BRRS|Myhre-Riley-Smith syndrome +GARD:0005890,Orphanet,ORPHA:111,Disorder,Disease,Barth syndrome,3-methylglutaconic aciduria type 2|BTHS|Cardioskeletal myopathy with neutropenia and abnormal mitochondria|Cardioskeletal myopathy-neutropenia syndrome|MGA2|X-linked cardioskeletal myopathy and neutropenia +GARD:0005893,Orphanet,ORPHA:112,Disorder,Disease,Bartter syndrome,"Renal tubular normotensive hypokalemic alkalosis with hypercalciuria|Salt-losing tubular disorder, Henle's loop type|Salt-wasting tubulopathy, Henle's loop type" +GARD:0005897,Orphanet,ORPHA:228346,Subtype of disorder,Etiological subtype,CLN3 disease,Classic juvenile NCL|Classic juvenile neuronal ceroid lipofuscinosis +GARD:0005898,Orphanet,ORPHA:97245,Group of disorders,Category,Congenital myopathy, +GARD:0005899,Orphanet,ORPHA:115,Disorder,Malformation syndrome,Congenital contractural arachnodactyly,Beals syndrome|Beals-Hecht syndrome|CCA syndrome|Distal arthrogryposis type 9 +GARD:0005900,Orphanet,ORPHA:98895,Disorder,Disease,Becker muscular dystrophy,BMD|Becker dystrophinopathy +GARD:0005907,Orphanet,ORPHA:251595,Disorder,Disease,Diffuse astrocytoma, +GARD:0005913,Orphanet,ORPHA:46486,Disorder,Disease,Mucous membrane pemphigoid,Cicatricial pemphigoid|Mucosal pemphigoid|Mucosynechial pemphigoid +GARD:0005926,Orphanet,ORPHA:179,Disorder,Disease,Birdshot chorioretinopathy,Birdshot chorioretinitis|Birdshot retinochoroiditis|Birdshot retinochoroidopathy|Vitiliginous choroiditis +GARD:0005939,Orphanet,ORPHA:94086,Disorder,Disease,Blue diaper syndrome,Drummond syndrome|Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome +GARD:0005940,Orphanet,ORPHA:1059,Disorder,Malformation syndrome,Blue rubber bleb nevus,BRBN|Bean syndrome +GARD:0005950,Orphanet,ORPHA:1270,Disorder,Malformation syndrome,Bowen-Conradi syndrome,"Bowen syndrome, Hutterite type" +GARD:0005961,Orphanet,ORPHA:1303,Disorder,Disease,Bronchiolitis obliterans with obstructive pulmonary disease,Constrictive bronchiolitis|Obliterative bronchiolitis +GARD:0005962,Orphanet,ORPHA:70589,Disorder,Malformation syndrome,Bronchopulmonary dysplasia,BPD +GARD:0005966,Orphanet,ORPHA:1304,Disorder,Disease,Brucellosis, +GARD:0005968,Orphanet,ORPHA:131,Disorder,Disease,Budd-Chiari syndrome, +GARD:0005969,Orphanet,ORPHA:36258,Disorder,Disease,Buerger disease,Thromboangiitis obliterans +GARD:0005972,Orphanet,ORPHA:703,Disorder,Disease,Bullous pemphigoid, +GARD:0005973,Orphanet,ORPHA:543,Disorder,Disease,Burkitt lymphoma,Small non-cleaved cell lymphoma +GARD:0005974,Orphanet,ORPHA:353253,Disorder,Disease,Burning mouth syndrome,BMS|Oral dysesthesia|Orodynia|Stomatodynia|Stomatopyrosis +GARD:0005975,Orphanet,ORPHA:352763,Disorder,Disease,Scleredema,Buschke scleredema +GARD:0005978,Orphanet,ORPHA:1308,Disorder,Malformation syndrome,C syndrome,OTCS|Opitz C trigonocephaly|Opitz trigonocephaly C syndrome|Opitz trigonocephaly syndrome|Trigonocephaly C syndrome +GARD:0005979,Orphanet,ORPHA:91378,Group of disorders,Clinical group,Hereditary angioedema,Familial angioneurotic edema|HAE|Hereditary angioneurotic edema|Hereditary bradykinine-induced angioedema|Hereditary non histamine-induced angioedema +GARD:0005980,Orphanet,ORPHA:280062,Disorder,Disease,Calciphylaxis, +GARD:0005984,Orphanet,ORPHA:141,Disorder,Disease,Canavan disease,ACY2 deficiency|Aminoacylase 2 deficiency|Aspartoacylase deficiency|Spongy degeneration of the brain +GARD:0005993,Orphanet+OMIM,OMIM:611490,Subtype of disorder,Malformation syndrome subtype,"Osteopetrosis, autosomal recessive 4","Osteopetrosis, infantile malignant 2" +GARD:0005994,Orphanet,ORPHA:100093,Disorder,Clinical syndrome,Carcinoid syndrome,Malignant carcinoid syndrome +GARD:0006001,Orphanet,ORPHA:1361,Disorder,Biological anomaly,Carnosinase deficiency, +GARD:0006002,Orphanet,ORPHA:53035,Disorder,Malformation syndrome,Caroli disease, +GARD:0006003,Orphanet,ORPHA:65759,Disorder,Malformation syndrome,Carpenter syndrome,ACPS2|Acrocephalopolysyndactyly type 2 +GARD:0006005,Orphanet,ORPHA:93685,Subtype of disorder,Clinical subtype,Unicentric Castleman disease,Localized Castleman disease +GARD:0006007,Orphanet,ORPHA:3027,Disorder,Malformation syndrome,Caudal regression syndrome,Caudal dysgenesis syndrome|Caudal dysplasia|Caudal regression sequence +GARD:0006010,Orphanet,ORPHA:79489,Disorder,Malformation syndrome,Macrocystic lymphatic malformation,Cavernous lymphangioma|Cavernous lymphatic malformation|Macrocystic lymphangioma +GARD:0006011,Orphanet,ORPHA:98889,Subtype of disorder,Clinical subtype,Bilateral perisylvian polymicrogyria, +GARD:0006014,Orphanet,ORPHA:597,Disorder,Disease,Central core disease, +GARD:0006015,Orphanet,ORPHA:178029,Disorder,Disease,Central diabetes insipidus,CDI|Neurogenic diabetes insipidus +GARD:0006026,Orphanet,ORPHA:1393,Disorder,Malformation syndrome,Cerebrocostomandibular syndrome, +GARD:0006027,Orphanet,ORPHA:1466,Subtype of disorder,Clinical subtype,COFS syndrome,Cerebrooculofacioskeletal syndrome|Pena-Shokeir syndrome type 2 +GARD:0006033,Orphanet,ORPHA:98979,Subtype of disorder,Clinical subtype,Chandler syndrome, +GARD:0006034,Orphanet,ORPHA:166,Group of disorders,Category,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,CMT/HMSN|Charcot-Marie-Tooth hereditary neuropathy +GARD:0006035,Orphanet,ORPHA:167,Disorder,Disease,Chédiak-Higashi syndrome,Chédiak-Higashi disease|Chédiak-Higashi-Steinbrink syndrome +GARD:0006036,Orphanet,ORPHA:184,Disorder,Malformation syndrome,Cherubism,CRBM +GARD:0006038,Orphanet,ORPHA:324625,Disorder,Disease,Chikungunya, +GARD:0006039,Orphanet,ORPHA:139,Disorder,Disease,CHILD syndrome,CHILD nevus|Congenital hemidysplasia with ichthyosiform nevus and limbs defects +GARD:0006040,Orphanet,ORPHA:168782,Disorder,Disease,Childhood disintegrative disorder,Dementia infantilis|Heller syndrome +GARD:0006043,Orphanet,ORPHA:173,Disorder,Disease,Cholera, +GARD:0006048,Orphanet+OMIM,OMIM:600668,Subtype of disorder,Disease subtype,Chondrocalcinosis 1, +GARD:0006049,Orphanet,ORPHA:309789,Subtype of disorder,Etiological subtype,Rhizomelic chondrodysplasia punctata type 1, +GARD:0006055,Orphanet,ORPHA:55880,Disorder,Disease,Chondrosarcoma, +GARD:0006061,Orphanet,ORPHA:180,Disorder,Disease,Choroideremia,CHM|Tapetochoroidal dystrophy +GARD:0006064,Orphanet,ORPHA:319303,Disorder,Disease,Chromophobe renal cell carcinoma,Chromophobe renal cell adenocarcinoma +GARD:0006069,Orphanet,ORPHA:96176,Disorder,Malformation syndrome,Ring chromosome 13 syndrome,Ring 13|Ring chromosome 13 +GARD:0006072,Orphanet,ORPHA:1440,Disorder,Malformation syndrome,Ring chromosome 14 syndrome,Ring 14|Ring chromosome 14 +GARD:0006077,Orphanet,ORPHA:1442,Disorder,Malformation syndrome,Ring chromosome 18 syndrome,Ring 18|Ring chromosome 18 +GARD:0006082,Orphanet,ORPHA:1606,Disorder,Malformation syndrome,1p36 deletion syndrome,Del(1)(p36)|Deletion 1p36|Deletion 1pter|Monosomy 1p36|Monosomy 1pter|Subtelomeric 1p36 deletion +GARD:0006083,Orphanet,ORPHA:1445,Disorder,Malformation syndrome,Ring chromosome 21 syndrome, +GARD:0006085,Orphanet,ORPHA:96068,Disorder,Malformation syndrome,Mosaic trisomy 22,Mosaic trisomy chromosome 22|Trisomy 22 mosaicism +GARD:0006091,Orphanet,ORPHA:1738,Disorder,Malformation syndrome,Trisomy 4p,Duplication 4p|Duplication of the short arm of chromosome 4|Trisomy of the short arm of chromosome 4 +GARD:0006093,Orphanet,ORPHA:1742,Disorder,Malformation syndrome,Trisomy 5p,Duplication 5p|Duplication of the short arm of chromosome 5|Trisomy of the short arm of chromosome 5 +GARD:0006095,Orphanet,ORPHA:1448,Disorder,Malformation syndrome,Ring chromosome 6 syndrome,Ring 6|Ring chromosome 6 +GARD:0006100,Orphanet,ORPHA:379,Disorder,Disease,Chronic granulomatous disease,CGD|Chronic septic granulomatosis +GARD:0006102,Orphanet,ORPHA:2932,Disorder,Disease,Chronic inflammatory demyelinating polyneuropathy,CIDP|Chronic inflammatory demyelinating polyradiculoneuropathy +GARD:0006104,Orphanet,ORPHA:67038,Disorder,Disease,B-cell chronic lymphocytic leukemia,B-CLL|B-cell chronic lymphoid leukemia|Small lymphocytic lymphoma +GARD:0006105,Orphanet,ORPHA:521,Disorder,Disease,Chronic myeloid leukemia,CML|Chronic granulocytic leukemia|Chronic myelogenous leukemia +GARD:0006107,Orphanet+OMIM,OMIM:257100,Subtype of disorder,Disease subtype,"Neutropenia, lethal congenital, with eosinophilia", +GARD:0006108,Orphanet,ORPHA:324964,Disorder,Disease,Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis,CNO/CRMO +GARD:0006111,Orphanet,ORPHA:183,Disorder,Disease,Eosinophilic granulomatosis with polyangiitis,Churg-Strauss syndrome|EGPA|Granulomatous allergic angiitis +GARD:0006114,Orphanet,ORPHA:247525,Disorder,Disease,Citrullinemia type I,ASS deficiency|Argininosuccinate synthase deficiency|Argininosuccinate synthetase deficiency|Argininosuccinic acid synthase deficiency|Argininosuccinic acid synthetase deficiency|CTLN1|Citrullinemia type 1|Classic citrullinemia +GARD:0006118,Orphanet,ORPHA:1452,Disorder,Malformation syndrome,Cleidocranial dysplasia,Cleidocranial dysostosis +GARD:0006121,Orphanet,ORPHA:190,Disorder,Disease,Coats disease,Congenital retinal telangiectasia|Leber miliary aneurysm +GARD:0006122,Orphanet,ORPHA:191,Disorder,Disease,Cockayne syndrome, +GARD:0006123,Orphanet,ORPHA:192,Disorder,Malformation syndrome,Coffin-Lowry syndrome,CLS +GARD:0006124,Orphanet,ORPHA:1465,Disorder,Malformation syndrome,Coffin-Siris syndrome,CSS +GARD:0006125,Orphanet,ORPHA:98980,Subtype of disorder,Clinical subtype,Cogan-Reese syndrome, +GARD:0006126,Orphanet,ORPHA:193,Disorder,Malformation syndrome,Cohen syndrome, +GARD:0006130,Orphanet,ORPHA:56425,Disorder,Disease,Cold agglutinin disease,CAD|CAS|Chronic cold agglutinin disease|Cold agglutinin syndrome +GARD:0006140,Orphanet,ORPHA:1572,Disorder,Disease,Common variable immunodeficiency,CVID|Idiopathic immunoglobulin deficiency|Primary antibody deficiency|Primary hypogammaglobulinemia +GARD:0006145,Orphanet+OMIM,OMIM:120970,Subtype of disorder,Disease subtype,Cone-rod dystrophy 2,retinal cone-rod dystrophy|cone-rod retinal dystrophy|Cone-rod dystrophy +GARD:0006148,Orphanet,ORPHA:82,Disorder,Disease,Hereditary thrombophilia due to congenital antithrombin deficiency,Hereditary thrombophilia due to congenital antithrombin 3 deficiency +GARD:0006161,Orphanet,ORPHA:2020,Disorder,Disease,Congenital fiber-type disproportion myopathy,CFTDM +GARD:0006164,Orphanet,ORPHA:60041,Disorder,Disease,Congenital heart block,Congenital atrioventricular block +GARD:0006168,Orphanet+OMIM,OMIM:263200,Subtype of disorder,Disease subtype,Polycystic kidney disease 4 with or without polycystic liver disease,"pkd3, formerly|Polycystic kidney disease 4 with or without hepatic disease|polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|polycystic kidney disease, autosomal recessive" +GARD:0006169,Orphanet,ORPHA:95159,Disorder,Disease,Hepatoerythropoietic porphyria,HEP +GARD:0006176,Orphanet+OMIM,OMIM:160800,Subtype of disorder,Disease subtype,"Myotonia congenita, autosomal dominant",Thomsen disease +GARD:0006189,Orphanet,ORPHA:35173,Disorder,Disease,X-linked dominant chondrodysplasia punctata,CDPX2|CDPXD|CPXD|Chondrodystrophia calcificans congenita|Conradi-Hünermann-Happle syndrome|X-linked chondrodysplasia punctata type 2 +GARD:0006194,Orphanet,ORPHA:1463,Group of disorders,Clinical group,Triatrial heart,Cor triatriatum +GARD:0006196,Orphanet,ORPHA:293603,Disorder,Disease,Congenital hereditary endothelial dystrophy type II,Autosomal recessive CHED|Autosomal recessive congenital hereditary endothelial dystrophy|CHED2|CHEDII|Congenital hereditary endothelial dystrophy type 2|Infantile hereditary endothelial dystrophy|Maumenee corneal dystrophy +GARD:0006202,Orphanet,ORPHA:201,Disorder,Disease,Cowden syndrome,Cowden disease|Multiple hamartoma syndrome +GARD:0006205,Orphanet,ORPHA:581271,Disorder,Disease,Cramp-fasciculation syndrome, +GARD:0006206,Orphanet,ORPHA:207,Disorder,Malformation syndrome,Crouzon syndrome,Crouzon craniofacial dysostosis +GARD:0006209,Orphanet,ORPHA:1531,Group of disorders,Category,Craniosynostosis, +GARD:0006213,Orphanet,ORPHA:281,Disorder,Malformation syndrome,Monosomy 5p,Cri du chat syndrome|Deletion 5p +GARD:0006217,Orphanet,ORPHA:91139,Disorder,Disease,Simple cryoglobulinemia,Cryoglobulinemia type 1 +GARD:0006218,Orphanet,ORPHA:1546,Disorder,Disease,Cryptococcosis, +GARD:0006224,Orphanet,ORPHA:553,Group of disorders,Clinical group,Cushing syndrome,Hyperadrenocorticism|Hypercortisolism +GARD:0006225,Orphanet,ORPHA:535,Group of disorders,Clinical group,Rare cutaneous lupus erythematosus, +GARD:0006226,Orphanet,ORPHA:171901,Group of disorders,Category,Primary cutaneous T-cell lymphoma, +GARD:0006227,Orphanet,ORPHA:209,Group of disorders,Clinical group,Cutis laxa, +GARD:0006228,Orphanet,ORPHA:1556,Disorder,Malformation syndrome,Cutis marmorata telangiectatica congenita,CMTC +GARD:0006229,Orphanet,ORPHA:2686,Disorder,Disease,Cyclic neutropenia, +GARD:0006233,Orphanet,ORPHA:586,Disorder,Disease,Cystic fibrosis,CF|Mucoviscidosis +GARD:0006236,Orphanet,ORPHA:213,Disorder,Disease,Cystinosis,Protein defect of cystin transport +GARD:0006237,Orphanet,ORPHA:214,Disorder,Disease,Cystinuria,Cystinuria-lysinuria syndrome +GARD:0006242,Orphanet,ORPHA:217,Disorder,Morphological anomaly,Isolated Dandy-Walker malformation, +GARD:0006243,Orphanet,ORPHA:218,Disorder,Disease,Darier disease,Darier-White disease|Keratosis follicularis +GARD:0006249,Orphanet,ORPHA:679,Disorder,Disease,Malignant atrophic papulosis,Degos disease|Köhlmeier-Degos disease|Köhlmeier-Degos-Delort-Tricort syndrome|Papulosis atrophican maligna +GARD:0006254,Orphanet,ORPHA:99828,Disorder,Disease,Dengue fever,DF|Dengue virus infection +GARD:0006258,Orphanet,ORPHA:49042,Disorder,Disease,Dentinogenesis imperfecta,DGI|DGI without OI|DI|Dentinogenesis imperfecta without osteogenesis imperfecta|Non-syndromic DGI|Non-syndromic dentinogenesis imperfecta|Opalescent teeth without OI|Opalescent teeth without osteogenesis imperfecta +GARD:0006263,Orphanet,ORPHA:221,Disorder,Disease,Dermatomyositis,Adult dermatomyositis +GARD:0006265,Orphanet,ORPHA:83469,Disorder,Disease,Desmoplastic small round cell tumor,DSRCT +GARD:0006267,Orphanet,ORPHA:71211,Disorder,Disease,Neuromyelitis optica spectrum disorder,Devic disease|NMOSD +GARD:0006274,Orphanet,ORPHA:124,Disorder,Disease,Blackfan-Diamond anemia,"Aase syndrome|Aase-Smith II syndrome|Congenital PRCA|Congenital hypoplastic anemia, Blackfan-Diamond type|Congenital pure red cell aplasia|Diamond-Blackfan anemia" +GARD:0006275,Orphanet,ORPHA:628,Disorder,Disease,Diastrophic dysplasia,Diastrophic dwarfism +GARD:0006276,Orphanet,ORPHA:1672,Disorder,Disease,Diencephalic syndrome,Diencephalic cachexia|Diencephalic syndrome of childhood|Diencephalic syndrome of emaciation|Russell diencephalic cachexia|Russell syndrome +GARD:0006286,Orphanet,ORPHA:231,Disorder,Disease,Dracunculiasis,Dracunculosis|Guinea worm disease|Medina worm disease|Medinensis +GARD:0006288,Orphanet,ORPHA:233,Disorder,Malformation syndrome,Duane retraction syndrome,DRS|DURS|Duane syndrome|Stilling-Turk-Duane syndrome +GARD:0006290,Orphanet,ORPHA:235,Disorder,Malformation syndrome,Dubowitz syndrome, +GARD:0006291,Orphanet,ORPHA:98896,Disorder,Disease,Duchenne muscular dystrophy,"DMD|Severe dystrophinopathy, Duchenne type" +GARD:0006295,Orphanet,ORPHA:239,Disorder,Disease,Dyggve-Melchior-Clausen disease, +GARD:0006299,Orphanet+OMIM,OMIM:127550,Subtype of disorder,Disease subtype,"Dyskeratosis congenita, autosomal dominant 1","Dyskeratosis congenita, scoggins type" +GARD:0006300,Orphanet+OMIM,OMIM:224230,Subtype of disorder,Disease subtype,"Dyskeratosis congenita, autosomal recessive 1", +GARD:0006308,Orphanet,ORPHA:79408,Disorder,Disease,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form","Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis|Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type|Generalized RDEB, severe form|RDEB generalisata gravis|RDEB, Hallopeau-Siemens type|Severe generalized RDEB" +GARD:0006309,Orphanet,ORPHA:40923,Disorder,Disease,Eales disease,Idiopathic retinal perivasculitis|Idiopathic retinal vasculitis +GARD:0006313,Orphanet,ORPHA:1880,Disorder,Morphological anomaly,Ebstein malformation of the tricuspid valve,Ebstein anomaly of the tricuspid valve +GARD:0006317,Orphanet,ORPHA:79373,Group of disorders,Category,Ectodermal dysplasia syndrome,Ectodermal dysplasia +GARD:0006319,Orphanet,ORPHA:2440,Disorder,Malformation syndrome,Isolated split hand-split foot malformation,Ectrodactyly|SHFM|Split hand foot malformation +GARD:0006321,Orphanet,ORPHA:3380,Disorder,Malformation syndrome,Trisomy 18,Chromosome 18 duplication|Edwards syndrome +GARD:0006322,Orphanet,ORPHA:98249,Group of disorders,Clinical group,Ehlers-Danlos syndrome,EDS +GARD:0006323,Orphanet,ORPHA:97214,Disorder,Malformation syndrome,Eisenmenger syndrome, +GARD:0006329,Orphanet,ORPHA:261,Disorder,Disease,Emery-Dreifuss muscular dystrophy,EDMD +GARD:0006332,Orphanet,ORPHA:83600,Disorder,Disease,Encephalitis lethargica,Von Economo encephalitis +GARD:0006333,Orphanet,ORPHA:199647,Disorder,Morphological anomaly,Isolated encephalocele, +GARD:0006336,Orphanet,ORPHA:2022,Disorder,Disease,Endocardial fibroelastosis,Endomyocardial fibroelastosis +GARD:0006337,Orphanet,ORPHA:570762,Disorder,Disease,Infective endocarditis,Bacterial endocarditis|Infectious endocarditis +GARD:0006339,Orphanet,ORPHA:213711,Disorder,Disease,Endometrial stromal sarcoma,Stromal sarcoma of the corpus uteri +GARD:0006351,Orphanet,ORPHA:3165,Disorder,Disease,Eosinophilic fasciitis,Diffuse fasciitis with eosinophilia|Shulman syndrome +GARD:0006353,Orphanet,ORPHA:251636,Disorder,Disease,Ependymoma,Classic ependymoma +GARD:0006357,Orphanet,ORPHA:302,Disorder,Disease,Epidermodysplasia verruciformis,Lewandowsky-Lutz syndrome|Lutz-Lewandowsky epidermodysplasia verruciformis +GARD:0006360,Orphanet,ORPHA:46487,Disorder,Disease,Epidermolysis bullosa acquisita,Acquired epidermolysis bullosa +GARD:0006369,Orphanet,ORPHA:35687,Disorder,Disease,Erdheim-Chester disease, +GARD:0006377,Orphanet,ORPHA:90026,Disorder,Disease,Primary erythromelalgia,Primary erythermalgia +GARD:0006381,Orphanet,ORPHA:1199,Disorder,Morphological anomaly,Esophageal atresia, +GARD:0006383,Orphanet,ORPHA:70482,Group of disorders,Clinical group,Carcinoma of esophagus,Esophageal carcinoma +GARD:0006386,Orphanet,ORPHA:91138,Disorder,Disease,Cryoglobulinemic vasculitis,Essential cryoglobulinemia|Essential mixed cryoglobulinemia|Mixed cryoglobulinemia|Primary cryoglobulinemia +GARD:0006389,Orphanet,ORPHA:1959,Disorder,Disease,Evans syndrome,Autoimmune hemolytic anemia and autoimmune thrombocytopenia|Immune pancytopenia +GARD:0006390,Orphanet,ORPHA:319,Disorder,Disease,Skeletal Ewing sarcoma,Osseous Ewing sarcoma +GARD:0006398,Orphanet,ORPHA:93930,Subtype of disorder,Clinical subtype,Bladder exstrophy,Classic exstrophy of the bladder +GARD:0006400,Orphanet,ORPHA:324,Disorder,Disease,Fabry disease,Alpha-galactosidase A deficiency|Anderson-Fabry disease|Angiokeratoma corporis diffusum|Diffuse angiokeratoma|FD +GARD:0006404,Orphanet,ORPHA:328,Disorder,Disease,Congenital factor X deficiency,Congenital Stuart factor deficiency|Stuart-Prower factor deficiency +GARD:0006405,Orphanet,ORPHA:599480,Disorder,Disease,Acquired hemophilia A,AHA|Acquired F8 deficiency|Acquired factor VIII deficiency +GARD:0006406,Orphanet,ORPHA:1980,Disorder,Disease,Bilateral striopallidodentate calcinosis,BSPDC|Cerebrovascular ferrocalcinosis|Idiopathic basal ganglia calcification|PFBC|Primary familial brain calcification +GARD:0006408,Orphanet,ORPHA:733,Disorder,Disease,Familial adenomatous polyposis,Colorectal adenomatous polyposis|FAP|Familial polyposis coli +GARD:0006414,Orphanet,ORPHA:444490,Disorder,Disease,Familial chylomicronemia syndrome, +GARD:0006421,Orphanet,ORPHA:342,Disorder,Disease,Familial Mediterranean fever,Benign paroxysmal peritonitis|Benign recurrent polyserositis|FMF|Familial paroxysmal polyserositis|Periodic disease +GARD:0006425,Orphanet,ORPHA:84,Disorder,Malformation syndrome,Fanconi anemia,Fanconi pancytopenia +GARD:0006426,Orphanet,ORPHA:333,Disorder,Disease,Farber disease,Acid ceramidase deficiency|Farber lipogranulomatosis +GARD:0006427,Orphanet,ORPHA:99906,Disorder,Disease,Farmer's lung disease, +GARD:0006429,Orphanet,ORPHA:466,Disorder,Disease,Fatal familial insomnia, +GARD:0006435,Orphanet,ORPHA:1912,Disorder,Malformation syndrome,Fetal hydantoin syndrome,Fetal dihydantoin syndrome|Phenytoin embryofetopathy +GARD:0006444,Orphanet,ORPHA:249,Disorder,Malformation syndrome,Fibrous dysplasia of bone, +GARD:0006445,Orphanet,ORPHA:337,Disorder,Disease,Fibrodysplasia ossificans progressiva,FOP|Myositis ossificans progressiva|Stone man syndrome +GARD:0006447,Orphanet,ORPHA:468726,Disorder,Disease,Severe primary trimethylaminuria,TMAU +GARD:0006450,Orphanet,ORPHA:79292,Subtype of disorder,Clinical subtype,Fish-eye disease,FED|Partial LCAT deficiency +GARD:0006455,Orphanet,ORPHA:2044,Disorder,Malformation syndrome,Floating-Harbor syndrome, +GARD:0006457,Orphanet,ORPHA:2092,Disorder,Malformation syndrome,Focal dermal hypoplasia,Goltz syndrome|Goltz-Gorlin syndrome +GARD:0006464,Orphanet,ORPHA:908,Disorder,Malformation syndrome,Fragile X syndrome,FRAXA syndrome|FXS|FraX syndrome|Martin-Bell syndrome +GARD:0006465,Orphanet,ORPHA:2052,Disorder,Malformation syndrome,Fraser syndrome,Cryptophthalmos-syndactyly syndrome +GARD:0006466,Orphanet,ORPHA:2053,Disorder,Malformation syndrome,Freeman-Sheldon syndrome,Craniocarpotarsal dysplasia|Craniocarpotarsal dystrophy|Distal arthrogryposis type 2A|Freeman-Burian syndrome|Whistling face syndrome +GARD:0006468,Orphanet,ORPHA:95,Disorder,Disease,Friedreich ataxia,FA|FRDA +GARD:0006471,Orphanet,ORPHA:2056,Disorder,Disease,Essential fructosuria,Fructokinase deficiency|Ketohexokinase deficiency +GARD:0006473,Orphanet,ORPHA:349,Disorder,Disease,Fucosidosis,Alpha-L-fucosidase deficiency +GARD:0006475,Orphanet,ORPHA:272,Disorder,Malformation syndrome,"Congenital muscular dystrophy, Fukuyama type",FCMD|FKTN-related congenital muscular dystrophy|Fukuyama congenital muscular dystrophy +GARD:0006476,Orphanet,ORPHA:24,Disorder,Disease,Fumaric aciduria,Fumarase deficiency +GARD:0006479,Orphanet,ORPHA:79255,Subtype of disorder,Clinical subtype,GM1 gangliosidosis type 1,Infantile GM1 gangliosidosis|Norman-Landing disease +GARD:0006481,Orphanet,ORPHA:324636,Disorder,Disease,Autoerythrocyte sensitization syndrome,GDS|Gardner-Diamond syndrome|Painful bruising syndrome|Psychogenic purpura +GARD:0006482,Orphanet,ORPHA:79665,Subtype of disorder,Clinical subtype,Gardner syndrome, +GARD:0006485,Orphanet,ORPHA:52417,Disorder,Disease,MALT lymphoma,Extranodal marginal zone B-cell lymphoma|MALToma|Mucosa-associated lymphatic tissue lymphoma|Mucosa-associated lymphoid tissue lymphoma +GARD:0006497,Orphanet,ORPHA:63275,Disorder,Disease,Pemphigoid gestationis,Gestational pemphigoid +GARD:0006498,Orphanet,ORPHA:59305,Group of disorders,Clinical group,Gestational trophoblastic neoplasm,GTN +GARD:0006500,Orphanet,ORPHA:643,Disorder,Disease,Giant axonal neuropathy,GAN +GARD:0006506,Orphanet,ORPHA:99725,Disorder,Disease,Pituitary gigantism,Hypophyseal gigantism|Infantile and juvenile forms of acromegaly +GARD:0006509,Orphanet+OMIM,OMIM:135300,Subtype of disorder,Malformation syndrome subtype,"Fibromatosis, gingival, 1","fibromatosis, gingival, hereditary|ggf1|Gingf" +GARD:0006513,Orphanet,ORPHA:182067,Group of disorders,Clinical group,Glial tumor,Glioma +GARD:0006514,Orphanet,ORPHA:251582,Disorder,Disease,Gliomatosis cerebri, +GARD:0006519,Orphanet,ORPHA:221098,Disorder,Disease,Glossopharyngeal neuralgia, +GARD:0006520,Orphanet,ORPHA:466026,Disorder,Disease,Class I glucose-6-phosphate dehydrogenase deficiency,Class I G6PD deficiency|Severe hemolytic anemia due to G6PD deficiency +GARD:0006521,Orphanet,ORPHA:35710,Disorder,Disease,Glucose-galactose malabsorption,SGLT1 deficiency +GARD:0006522,Orphanet,ORPHA:25,Disorder,Disease,Glutaryl-CoA dehydrogenase deficiency,GA1|GCDHD|Glutaric acidemia type 1|Glutaric aciduria type 1|Glutaryl-coenzyme A dehydrogenase deficiency +GARD:0006523,Orphanet,ORPHA:26791,Disorder,Disease,Multiple acyl-CoA dehydrogenase deficiency,Glutaric acidemia type 2|Glutaric aciduria type 2|MAD deficiency|MADD +GARD:0006528,Orphanet,ORPHA:368,Disorder,Disease,Glycogen storage disease due to muscle glycogen phosphorylase deficiency,GSD due to muscle glycogen phosphorylase deficiency|GSD type 5|GSD type V|Glycogen storage disease type 5|Glycogen storage disease type V|Glycogenosis due to muscle glycogen phosphorylase deficiency|Glycogenosis type 5|Glycogenosis type V|McArdle disease|Myophosphorylase deficiency +GARD:0006529,Orphanet,ORPHA:369,Disorder,Disease,Glycogen storage disease due to liver glycogen phosphorylase deficiency,GSD due to liver glycogen phosphorylase deficiency|GSD type 6|GSD type VI|Glycogen storage disease type 6|Glycogen storage disease type VI|Glycogenosis due to liver glycogen phosphorylase deficiency|Glycogenosis type 6|Glycogenosis type VI|Hepatic glycogen phosphorylase deficiency|Hepatic phosphorylase deficiency|Hers disease|Liver glycogen phosphorylase deficiency +GARD:0006542,Orphanet,ORPHA:73,Disorder,Malformation syndrome,Gorham-Stout disease,Gorham disease|Gorham syndrome|Idiopathic massive osteolysis|Progressive massive osteolysis|Vanishing bone disease +GARD:0006543,Orphanet,ORPHA:2500,Disorder,Malformation syndrome,Acrogeria,"Acrogeria, Gottron type|Acrometageria|Gottron syndrome" +GARD:0006544,Orphanet,ORPHA:99920,Subtype of disorder,Clinical subtype,Acute graft versus host disease, +GARD:0006550,Orphanet,ORPHA:380,Disorder,Malformation syndrome,Greig cephalopolysyndactyly syndrome,GCPS +GARD:0006554,Orphanet,ORPHA:2103,Group of disorders,Clinical group,Guillain-Barré syndrome,GBS|Guillain-Barré-Strohl syndrome +GARD:0006556,Orphanet,ORPHA:414,Disorder,Disease,Gyrate atrophy of choroid and retina,HOGA|Hyperornithinemia|Hyperornithinemia-gyrate atrophy of choroid and retina syndrome|Ornithine aminotransferase deficiency +GARD:0006558,Orphanet,ORPHA:330,Disorder,Disease,Congenital factor XII deficiency,Congenital Hageman factor deficiency +GARD:0006559,Orphanet,ORPHA:2841,Disorder,Disease,Familial benign chronic pemphigus,Benign chronic familial pemphigus of Hailey-Hailey|Hailey-Hailey disease +GARD:0006560,Orphanet,ORPHA:58017,Disorder,Disease,Classic hairy cell leukemia,HCL-C|Leukemic reticuloendotheliosis +GARD:0006564,Orphanet,ORPHA:157850,Disorder,Disease,Pantothenate kinase-associated neurodegeneration,Hallervorden-Spatz syndrome|NBIA1|Neurodegeneration with brain iron accumulation type 1|PKAN +GARD:0006568,Orphanet,ORPHA:457,Disorder,Disease,Harlequin ichthyosis,"HI|Ichthyosis congenita, Harlequin type|Ichthyosis fetalis, Harlequin type" +GARD:0006569,Orphanet,ORPHA:2116,Disorder,Disease,Hartnup disease,"Aminoaciduria, Hartnup type|Hartnup disorder" +GARD:0006571,Orphanet,ORPHA:1071,Disorder,Malformation syndrome,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,AEC syndrome|Hay-Wells syndrome +GARD:0006584,Orphanet,ORPHA:251365,Disorder,Disease,Sickle cell-hemoglobin C disease syndrome,HbSC disease +GARD:0006588,Orphanet,ORPHA:90038,Subtype of disorder,Clinical subtype,Shiga toxin-associated hemolytic uremic syndrome,D+ HUS|EHEC-HUS|Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli|Hemolytic uremic syndrome with diarrhea|STEC-HUS|Shiga-like toxin-associated HUS|Stx-HUS|Typical HUS|Typical hemolytic uremic syndrome +GARD:0006589,Orphanet,ORPHA:540,Disorder,Disease,Familial hemophagocytic lymphohistiocytosis,Familial HLH +GARD:0006591,Orphanet,ORPHA:98878,Disorder,Disease,Hemophilia A,Congenital F8 deficiency|Congenital FVIII deficiency|Congenital Factor VIII deficiency +GARD:0006594,Orphanet,ORPHA:3318,Disorder,Disease,Essential thrombocythemia,ET|Essential thrombocytosis +GARD:0006608,Orphanet,ORPHA:210159,Disorder,Disease,Adult hepatocellular carcinoma,Adult HCC +GARD:0006611,Orphanet,ORPHA:444116,Group of disorders,Category,Hereditary amyloidosis, +GARD:0006618,Orphanet,ORPHA:228357,Subtype of disorder,Etiological subtype,CLN9 disease, +GARD:0006619,Orphanet,ORPHA:79273,Disorder,Disease,Hereditary coproporphyria, +GARD:0006621,Orphanet,ORPHA:288,Disorder,Disease,Hereditary elliptocytosis,HE +GARD:0006622,Orphanet,ORPHA:469,Disorder,Disease,Hereditary fructose intolerance,Hereditary fructose-1-phosphate aldolase deficiency|Hereditary fructosemia +GARD:0006626,Orphanet,ORPHA:774,Disorder,Disease,Hereditary hemorrhagic telangiectasia,HHT|Rendu-Osler disease|Rendu-Osler-Weber disease +GARD:0006632,Orphanet,ORPHA:676,Disorder,Disease,Hereditary chronic pancreatitis, +GARD:0006635,Orphanet,ORPHA:36386,Disorder,Disease,Hereditary sensory and autonomic neuropathy type 1,HSAN1|Hereditary sensory and autonomic neuropathy type I +GARD:0006637,Orphanet,ORPHA:685,Group of disorders,Clinical group,Hereditary spastic paraplegia,Familial spastic paraplegia|HSP|Hereditary spastic paraparesis|SPG|Strümpell-Lorrain disease +GARD:0006639,Orphanet,ORPHA:822,Disorder,Disease,Hereditary spherocytosis,Minkowski-Chauffard disease +GARD:0006643,Orphanet,ORPHA:79430,Disorder,Disease,Hermansky-Pudlak syndrome,HPS +GARD:0006649,Orphanet,ORPHA:1930,Disorder,Disease,Herpes simplex virus encephalitis,HSE|HSV encephalitis|HSVE|Herpes simplex meningo-encephalitis|Herpes simplex neuroinvasion|Herpetic encephalitis +GARD:0006657,Orphanet,ORPHA:396,Disorder,Disease,Chronic hiccup, +GARD:0006660,Orphanet,ORPHA:388,Disorder,Disease,Hirschsprung disease,Aganglionic megacolon|Colonic aganglionosis|Congenital intestinal aganglionosis|HSCR +GARD:0006661,Orphanet,ORPHA:2157,Disorder,Disease,Histidinemia,HAL deficiency|HIS deficiency|Histidase deficiency|Histidine ammonia-lyase deficiency|Histidinuria|Hyperhistidinemia +GARD:0006665,Orphanet,ORPHA:2162,Disorder,Malformation syndrome,Holoprosencephaly,HPE +GARD:0006666,Orphanet,ORPHA:392,Disorder,Malformation syndrome,Holt-Oram syndrome,Atriodigital dysplasia type 1|HOS|Heart-hand syndrome type 1 +GARD:0006667,Orphanet,ORPHA:394,Disorder,Disease,Classic homocystinuria,Cystathionine beta-synthase deficiency|Homocystinuria due to cystathionine beta-synthase deficiency +GARD:0006670,Orphanet,ORPHA:91413,Disorder,Disease,Congenital Horner syndrome,Congenital Claude-Bernard-Horner syndrome +GARD:0006675,Orphanet,ORPHA:580,Disorder,Disease,Mucopolysaccharidosis type 2,Hunter syndrome|Iduronate 2-sulfatase deficiency|MPS2|MPSII|Mucopolysaccharidosis type II +GARD:0006677,Orphanet,ORPHA:399,Disorder,Disease,Huntington disease,Huntington chorea +GARD:0006681,Orphanet,ORPHA:2177,Disorder,Malformation syndrome,Hydranencephaly, +GARD:0006682,Orphanet,ORPHA:2185,Disorder,Malformation syndrome,Congenital hydrocephalus, +GARD:0006683,Orphanet,ORPHA:2189,Disorder,Malformation syndrome,Hydrolethalus, +GARD:0006703,Orphanet,ORPHA:412,Disorder,Disease,Dysbetalipoproteinemia,Broad-beta disease|Familial dyslipidemia type 3|HLP type 3|Hyperlipidemia type 3|Hyperlipoproteinemia type 3|Remnant hyperlipoproteinemia +GARD:0006704,Orphanet,ORPHA:530849,Subtype of disorder,Etiological subtype,Familial apolipoprotein A5 deficiency,Familial APOA5 deficiency|Familial apolipoprotein A-V deficiency +GARD:0006710,Orphanet,ORPHA:79101,Disorder,Disease,Hyperprolinemia type 2,Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency +GARD:0006724,Orphanet,ORPHA:429,Disorder,Disease,Hypochondroplasia, +GARD:0006725,Orphanet,ORPHA:36412,Disorder,Disease,Hypocomplementemic urticarial vasculitis,Anti-C1q vasculitis|Mac Duffie hypocomplementemic urticarial vasculitis|Mac Duffie syndrome|McDuffie hypocomplementemic urticarial vasculitis|McDuffie syndrome +GARD:0006729,Orphanet,ORPHA:681,Disorder,Disease,Hypokalemic periodic paralysis,Westphall disease +GARD:0006734,Orphanet,ORPHA:436,Disorder,Disease,Hypophosphatasia,HPP|Phosphoethanolaminuria|Rathbun disease +GARD:0006735,Orphanet,ORPHA:437,Group of disorders,Clinical group,Hypophosphatemic rickets, +GARD:0006737,Orphanet+OMIM,OMIM:312000,Subtype of disorder,Disease subtype,"Panhypopituitarism, x-linked","Pituitary dwarfism iv, formerly" +GARD:0006739,Orphanet,ORPHA:2248,Disorder,Morphological anomaly,Hypoplastic left heart syndrome,HLHS +GARD:0006749,Orphanet,ORPHA:576,Disorder,Disease,Mucolipidosis type II,I-cell disease|Mucolipidosis type II alpha/beta|N-acetylglucosamine 1-phosphotransferase deficiency +GARD:0006757,Orphanet,ORPHA:1676,Disorder,Disease,Idiopathic pulmonary artery dilatation, +GARD:0006760,Orphanet,ORPHA:85193,Disorder,Malformation syndrome,Idiopathic juvenile osteoporosis,IJO|Juvenile osteoporosis +GARD:0006763,Orphanet,ORPHA:99931,Disorder,Disease,Idiopathic pulmonary hemosiderosis, +GARD:0006778,Orphanet,ORPHA:464,Disorder,Malformation syndrome,Incontinentia pigmenti,Bloch-Siemens syndrome|Bloch-Sulzberger syndrome +GARD:0006779,Orphanet,ORPHA:70590,Disorder,Disease,Infantile apnea,Apnea in full-term infants|Apnea of infancy +GARD:0006791,Orphanet,ORPHA:263479,Disorder,Disease,Fuchs heterochromic iridocyclitis,FHI +GARD:0006793,Orphanet,ORPHA:84142,Disorder,Disease,Isaacs syndrome,Continuous muscle fiber activity syndrome|Isaacs-Mertens syndrome|Quantal squander syndrome +GARD:0006795,Orphanet,ORPHA:97548,Disorder,Malformation syndrome,Right sided atrial isomerism,Isomerism of right atrial appendage|Ivemark syndrome|RAI +GARD:0006796,Orphanet,ORPHA:1540,Disorder,Malformation syndrome,Jackson-Weiss syndrome,Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome|JWS +GARD:0006797,Orphanet,ORPHA:79139,Disorder,Disease,Japanese encephalitis, +GARD:0006798,Orphanet,ORPHA:2311,Disorder,Malformation syndrome,Autosomal recessive spondylocostal dysostosis,Jarcho-Levin syndrome +GARD:0006800,Orphanet,ORPHA:2314,Disorder,Disease,Autosomal dominant hyper-IgE syndrome,AD-HIES|Autosomal dominant HIES|Autosomal dominant hyperimmunoglobulin E syndrome|Buckley syndrome|Hyperimmunoglobulin E syndrome type 1|Hyperimmunoglobulin E-recurrent infection syndrome|Job syndrome|STAT3 deficiency +GARD:0006801,Orphanet,ORPHA:98757,Disorder,Disease,Spinocerebellar ataxia type 3,Azorean disease of the nervous system|MJD|Machado disease|Machado-Joseph disease|Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia|SCA3 +GARD:0006802,Orphanet,ORPHA:475,Disorder,Malformation syndrome,Joubert syndrome,CPD IV|Cerebelloparenchymal disorder IV|Classic Joubert syndrome|Joubert syndrome type A|Joubert-Boltshauser syndrome|Pure Joubert syndrome +GARD:0006805,Orphanet,ORPHA:93672,Disorder,Disease,Juvenile dermatomyositis,Juvenile DM +GARD:0006807,Orphanet,ORPHA:2176,Subtype of disorder,Clinical subtype,Infantile systemic hyalinosis, +GARD:0006808,Orphanet,ORPHA:307,Disorder,Disease,Juvenile myoclonic epilepsy,JME|Juvenile myoclonus epilepsy +GARD:0006810,Orphanet,ORPHA:2322,Disorder,Malformation syndrome,Kabuki syndrome,Kabuki make-up syndrome|Niikawa-Kuroki syndrome +GARD:0006814,Orphanet,ORPHA:33276,Disorder,Disease,Kaposi sarcoma, +GARD:0006816,Orphanet,ORPHA:2331,Disorder,Disease,Kawasaki disease,Mucocutaneous lymph node syndrome +GARD:0006817,Orphanet,ORPHA:480,Disorder,Disease,Kearns-Sayre syndrome, +GARD:0006818,Orphanet,ORPHA:481,Disorder,Disease,Kennedy disease,SBMA|SMAX1|X-linked BSMA|X-linked bulbospinal amyotrophy|X-linked bulbospinal muscular atrophy|X-linked spinal and bulbar muscular atrophy +GARD:0006821,Orphanet,ORPHA:587,Disorder,Disease,Muir-Torre syndrome,"Multiple keratoacanthoma, Muir-Torre type" +GARD:0006829,Orphanet,ORPHA:2340,Disorder,Disease,Keratosis follicularis spinulosa decalvans, +GARD:0006830,Orphanet,ORPHA:415286,Group of disorders,Clinical group,Bilirubin encephalopathy,Kernicterus +GARD:0006834,Orphanet,ORPHA:50918,Disorder,Disease,Kikuchi-Fujimoto disease,Histiocytic necrotizing lymphadenitis|Kikuchi disease +GARD:0006835,Orphanet,ORPHA:482,Disorder,Disease,Kimura disease,Eosinophilic lymphogranuloma +GARD:0006840,Orphanet,ORPHA:157823,Disorder,Clinical syndrome,Klüver-Bucy syndrome, +GARD:0006841,Orphanet,ORPHA:485,Disorder,Disease,Kniest dysplasia, +GARD:0006842,Orphanet,ORPHA:563991,Disorder,Disease,Osteochondrosis of the tarsal bone,Aseptic necrosis of the tarsal bone|Avascular necrosis of the tarsal bone|Kohler disease +GARD:0006844,Orphanet,ORPHA:487,Disorder,Disease,Krabbe disease,GALC deficiency|Galactocerebrosidase deficiency|Galactosylceramidase deficiency|Globoid cell leukodystrophy +GARD:0006845,Orphanet,ORPHA:228340,Subtype of disorder,Etiological subtype,CLN4A disease, +GARD:0006848,Orphanet,ORPHA:2363,Disorder,Malformation syndrome,Lacrimoauriculodentodigital syndrome,LADD syndrome|LARD syndrome|Lacrimoauriculoradiodental syndrome|Levy-Hollister syndrome +GARD:0006851,Orphanet,ORPHA:43393,Disorder,Disease,Lambert-Eaton myasthenic syndrome, +GARD:0006855,Orphanet,ORPHA:98818,Disorder,Disease,Landau-Kleffner syndrome,Acquired epileptic aphasia|LKS +GARD:0006858,Orphanet,ORPHA:389,Disorder,Disease,Langerhans cell histiocytosis,Histiocytosis X|Langerhans cell granulomatosis +GARD:0006859,Orphanet,ORPHA:633,Disorder,Disease,Laron syndrome,Complete growth hormone insensitivity|GH receptor deficiency|Growth hormone receptor deficiency|Laron-type dwarfism|Primary GH insensitivity|Primary GH resistance|Primary growth hormone insensitivity|Primary growth hormone resistance|Short stature due to growth hormone resistance +GARD:0006860,Orphanet,ORPHA:503,Disorder,Malformation syndrome,Larsen syndrome, +GARD:0006865,Orphanet,ORPHA:2373,Disorder,Malformation syndrome,Congenital laryngomalacia, +GARD:0006866,Orphanet,ORPHA:110,Disorder,Disease,Bardet-Biedl syndrome,BBS +GARD:0006867,Orphanet,ORPHA:5,Disorder,Disease,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,LCHAD deficiency|LCHADD|Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency +GARD:0006870,Orphanet,ORPHA:104,Disorder,Disease,Leber hereditary optic neuropathy,LHON|Leber optic atrophy +GARD:0006873,Orphanet,ORPHA:199251,Disorder,Disease,Ledderhose disease,Plantar fibromatosis +GARD:0006874,Orphanet,ORPHA:2380,Disorder,Disease,Legg-Calvé-Perthes disease,Aseptic necrosis of the capital femoral epiphysis|Osteochondrosis of the capital femoral epiphysis|Perthes disease +GARD:0006876,Orphanet,ORPHA:549,Disorder,Disease,Legionnaires disease, +GARD:0006877,Orphanet,ORPHA:506,Group of disorders,Clinical group,Leigh syndrome,Infantile subacute necrotizing encephalopathy|Leigh disease +GARD:0006878,Orphanet,ORPHA:314,Disorder,Disease,Erythroderma desquamativum,Leiner disease +GARD:0006880,Orphanet,ORPHA:64720,Disorder,Disease,Leiomyosarcoma, +GARD:0006881,Orphanet,ORPHA:507,Disorder,Disease,Leishmaniasis, +GARD:0006882,Orphanet,ORPHA:137839,Disorder,Disease,Lemierre syndrome,Lemierre postanginal sepsis|Postanginal sepsis secondary to orophyngeal infection|Septic phlebitis of the internal jugular vein +GARD:0006885,Orphanet,ORPHA:508,Disorder,Malformation syndrome,Leprechaunism,Donohue syndrome +GARD:0006886,Orphanet,ORPHA:548,Disorder,Disease,Leprosy, +GARD:0006893,Orphanet,ORPHA:99842,Subtype of disorder,Clinical subtype,Leukocyte adhesion deficiency type I,LAD-I +GARD:0006895,Orphanet,ORPHA:68356,Group of disorders,Category,Leukodystrophy, +GARD:0006901,Orphanet,ORPHA:65285,Disorder,Disease,Lhermitte-Duclos disease,Dysplastic gangliocytoma of the cerebellum|LDD +GARD:0006902,Orphanet,ORPHA:524,Disorder,Disease,Li-Fraumeni syndrome, +GARD:0006906,Orphanet,ORPHA:93558,Subtype of disorder,Clinical subtype,Light chain deposition disease,LCDD +GARD:0006907,Orphanet,ORPHA:263,Group of disorders,Clinical group,Limb-girdle muscular dystrophy,LGMD +GARD:0006913,Orphanet,ORPHA:69078,Disorder,Disease,Liposarcoma, +GARD:0006914,Orphanet,ORPHA:2148,Disorder,Disease,Lissencephaly type 1 due to doublecortin gene mutation,X-linked lissencephaly type 1 +GARD:0006915,Orphanet,ORPHA:533,Disorder,Disease,Listeriosis,Listeria infection +GARD:0006919,Orphanet,ORPHA:2406,Disorder,Disease,Locked-in syndrome,Cerebromedullospinal disconnection +GARD:0006940,Orphanet,ORPHA:33314,Disorder,Disease,Jessner lymphocytic infiltration of the skin,Jessner-Kanof lymphocytic infiltration of the skin +GARD:0006943,Orphanet,ORPHA:86869,Disorder,Disease,Lymphomatoid granulomatosis,LYG +GARD:0006944,Orphanet,ORPHA:98842,Disorder,Disease,Lymphomatoid papulosis,LyP +GARD:0006950,Orphanet,ORPHA:60040,Disorder,Malformation syndrome,Megalencephaly-capillary malformation-polymicrogyria syndrome,MCAP|MCM|MCMTC|Macrocephaly-capillary malformation syndrome|Macrocephaly-cutis marmorata telangiectatica congenita syndrome|Megalencephaly-capillary malformation syndrome|Megalencephaly-cutis marmorata telangiectatica congenita syndrome +GARD:0006951,Orphanet,ORPHA:295047,Disorder,Morphological anomaly,Macrodactyly of toes,Macrodactyly of foot +GARD:0006953,Orphanet,ORPHA:98969,Disorder,Disease,Macular corneal dystrophy,Corneal dystrophy Groenouw type II|Fehr corneal dystrophy|MCD +GARD:0006956,Orphanet,ORPHA:204,Disorder,Disease,Sporadic Creutzfeldt-Jakob disease,Sporadic CJD +GARD:0006957,Orphanet,ORPHA:2398,Disorder,Disease,Multiple symmetric lipomatosis,Cephalothoracic lipodystrophy|Familial benign cervical lipomatosis|Launois-Bensaude lipomatosis|Madelung disease +GARD:0006958,Orphanet,ORPHA:163634,Disorder,Disease,Maffucci syndrome, +GARD:0006959,Orphanet,ORPHA:210272,Disorder,Clinical syndrome,Mal de débarquement,Disembarkment syndrome|MdD|MdDS|Sickness of disembarkment +GARD:0006960,Orphanet,ORPHA:556,Disorder,Disease,Malakoplakia, +GARD:0006961,Orphanet,ORPHA:673,Disorder,Disease,Malaria, +GARD:0006963,Orphanet,ORPHA:2023,Disorder,Disease,Undifferentiated pleomorphic sarcoma,UPS +GARD:0006964,Orphanet,ORPHA:423,Disorder,Disease,Malignant hyperthermia of anesthesia,Hyperthermia of anesthesia +GARD:0006968,Orphanet,ORPHA:61,Disorder,Disease,Alpha-mannosidosis,Lysosomal alpha-D-mannosidase deficiency +GARD:0006969,Orphanet,ORPHA:52416,Disorder,Disease,Mantle cell lymphoma,LCM|MCL|Mantle zone lymphoma +GARD:0006971,Orphanet,ORPHA:221074,Disorder,Disease,Marchiafava-Bignami disease,MBD +GARD:0006972,Orphanet,ORPHA:91412,Disorder,Disease,Marcus-Gunn syndrome,Jaw-winking syndrome|Mandibulo-palpebral synkinesis-ptosis syndrome|Marcus-Gunn phenomenon +GARD:0006973,Orphanet,ORPHA:2461,Disorder,Malformation syndrome,Marden-Walker syndrome, +GARD:0006975,Orphanet,ORPHA:284963,Subtype of disorder,Clinical subtype,Marfan syndrome type 1,MFS1 +GARD:0006984,Orphanet,ORPHA:560,Disorder,Malformation syndrome,Marshall syndrome, +GARD:0006985,Orphanet,ORPHA:561,Disorder,Malformation syndrome,Marshall-Smith syndrome,Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome +GARD:0006986,Orphanet,ORPHA:2466,Subtype of disorder,Clinical subtype,MASA syndrome,Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome +GARD:0006987,Orphanet,ORPHA:98292,Group of disorders,Category,Mastocytosis, +GARD:0006992,Orphanet,ORPHA:1248,Disorder,Malformation syndrome,Maxillonasal dysplasia,Binder syndrome|Maxillonasal dysostosis +GARD:0006995,Orphanet,ORPHA:562,Disorder,Disease,McCune-Albright syndrome,Gonadotropin-independent female-limited sexual precocity +GARD:0006996,Orphanet,ORPHA:175,Disorder,Disease,Cartilage-hair hypoplasia,"Autosomal recessive metaphyseal chondrodysplasia|Metaphyseal chondrodysplasia, McKusick type" +GARD:0007002,Orphanet,ORPHA:88949,Subtype of disorder,Clinical subtype,MUC1-related autosomal dominant tubulointerstitial kidney disease,ADTKD-MUC1|MCKD1|MUC1-related medullary cystic kidney disease|MUCI-related ADTKD|Medullary cystic kidney disease type 1 +GARD:0007004,Orphanet,ORPHA:1332,Disorder,Disease,Medullary thyroid carcinoma,MTC +GARD:0007005,Orphanet,ORPHA:616,Disorder,Disease,Medulloblastoma, +GARD:0007006,Orphanet,ORPHA:35858,Disorder,Disease,Imerslund-Gräsbeck syndrome,Familial megaloblastic anemia|Selective cobalamin malabsorption with proteinuria +GARD:0007008,Orphanet,ORPHA:93964,Disorder,Disease,Blepharospasm-oromandibular dystonia syndrome,Meige dystonia|Meige syndrome +GARD:0007009,Orphanet,ORPHA:550,Disorder,Disease,MELAS,"Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes|Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes" +GARD:0007010,Orphanet,ORPHA:2483,Disorder,Malformation syndrome,Melkersson-Rosenthal syndrome, +GARD:0007011,Orphanet,ORPHA:2484,Disorder,Malformation syndrome,Melnick-Needles syndrome,Melnick-Needles osteodysplasty +GARD:0007015,Orphanet,ORPHA:2495,Disorder,Disease,Meningioma, +GARD:0007021,Orphanet,ORPHA:330021,Disorder,Disease,Mercury poisoning,Hydrargyria|Mercurialism|Mercury intoxication +GARD:0007026,Orphanet,ORPHA:50251,Disorder,Disease,Pleural mesothelioma, +GARD:0007029,Orphanet,ORPHA:174,Disorder,Disease,"Metaphyseal chondrodysplasia, Schmid type", +GARD:0007035,Orphanet,ORPHA:321,Disorder,Disease,Multiple osteochondromas,Bessel-Hagen disease|Multiple cartilaginous exostoses +GARD:0007039,Orphanet,ORPHA:2290,Disorder,Disease,Microvillus inclusion disease,Congenital microvillous atrophy|Congenital microvillus atrophy|MVID|Microvillous inclusion disease +GARD:0007041,Orphanet,ORPHA:86879,Disorder,Disease,Extranodal nasal NK/T cell lymphoma,Angiocentric T-cell lymphoma|Lethal midline granuloma|NK/T-cell lymphoma|NKTCL|Nasal T/natural killer-cell lymphoma +GARD:0007043,Orphanet,ORPHA:79078,Subtype of disorder,Clinical subtype,IgG4-related dacryoadenitis and sialadenitis,Chronic dacryoadenitis and sialadenitis|Mikulicz disease +GARD:0007051,Orphanet,ORPHA:809,Disorder,Disease,Mixed connective tissue disease,MCTD|Sharp syndrome +GARD:0007058,Orphanet,ORPHA:90289,Disorder,Disease,Localized scleroderma,Localized fibrosing scleroderma +GARD:0007064,Orphanet,ORPHA:2573,Disorder,Disease,Moyamoya disease,Idiopathic Moyamoya disease +GARD:0007065,Orphanet,ORPHA:79213,Group of disorders,Category,Mucopolysaccharidosis, +GARD:0007071,Orphanet,ORPHA:79269,Subtype of disorder,Etiological subtype,Sanfilippo syndrome type A,Heparan sulfamidase deficiency|MPS3A|MPSIIIA|Mucopolysaccharidosis type 3A|Mucopolysaccharidosis type IIIA +GARD:0007072,Orphanet,ORPHA:79270,Subtype of disorder,Etiological subtype,Sanfilippo syndrome type B,MPS3B|MPSIIIB|Mucopolysaccharidosis type 3B|Mucopolysaccharidosis type IIIB|N-acetyl-alpha-glucosaminidase deficiency +GARD:0007073,Orphanet,ORPHA:79271,Subtype of disorder,Etiological subtype,Sanfilippo syndrome type C,HGSNAT deficiency|Heparan-alpha-glucosaminide N-acetyltransferase deficiency|MPS3C|MPSIIIC|Mucopolysaccharidosis type 3C|Mucopolysaccharidosis type IIIC +GARD:0007074,Orphanet,ORPHA:79272,Subtype of disorder,Etiological subtype,Sanfilippo syndrome type D,GNS deficiency|Glucosamine N-acetyl-6-sulfatase deficiency|MPS3D|MPSIIID|Mucopolysaccharidosis type 3D|Mucopolysaccharidosis type IIID +GARD:0007079,Orphanet,ORPHA:102,Disorder,Disease,Multiple system atrophy,MSA|Multisystem atrophy +GARD:0007095,Orphanet,ORPHA:583,Disorder,Disease,Mucopolysaccharidosis type 6,ARSB deficiency|ASB deficiency|Arylsulfatase B deficiency|MPS6|MPSVI|Maroteaux-Lamy disease|Mucopolysaccharidosis type VI|N-acetylgalactosamine 4-sulfatase deficiency +GARD:0007096,Orphanet,ORPHA:584,Disorder,Disease,Mucopolysaccharidosis type 7,Beta-glucuronidase deficiency|MPS7|MPSVII|Mucopolysaccharidosis type VII|Sly disease +GARD:0007097,Orphanet,ORPHA:53271,Disorder,Malformation syndrome,Muenke syndrome, +GARD:0007100,Orphanet,ORPHA:73217,Group of disorders,Clinical group,Müllerian aplasia,Aplasia of the Müllerian ducts|Müllerian duct failure +GARD:0007103,Orphanet,ORPHA:139436,Disorder,Disease,Multicentric reticulohistiocytosis,Giant cell histiocytomatosis|Lipoid dermatoarthritis +GARD:0007108,Orphanet,ORPHA:29073,Disorder,Disease,Multiple myeloma,Kahler disease|Medullary plasmacytoma|Myelomatosis|Plasma cell myeloma +GARD:0007111,Orphanet,ORPHA:2990,Disorder,Malformation syndrome,Autosomal recessive multiple pterygium syndrome,Autosomal recessive non-lethal multiple pterygium syndrome|EVMPS|Escobar syndrome|Escobar variant multiple pterygium syndrome +GARD:0007122,Orphanet,ORPHA:589,Disorder,Disease,Myasthenia gravis,Acquired myasthenia|Autoimmune myasthenia gravis +GARD:0007132,Orphanet,ORPHA:52688,Group of disorders,Clinical group,Myelodysplastic syndrome, +GARD:0007139,Orphanet,ORPHA:36899,Disorder,Disease,Myoclonus-dystonia syndrome,Alcohol-responsive dystonia|Hereditary essential myoclonus|Myoclonic dystonia +GARD:0007140,Orphanet,ORPHA:98261,Group of disorders,Clinical group,Progressive myoclonic epilepsy,PME|Progressive myoclonus epilepsy +GARD:0007144,Orphanet,ORPHA:551,Disorder,Disease,MERRF,Fukuhara syndrome|Myoclonus epilepsy associated with ragged-red fibres +GARD:0007146,Orphanet,ORPHA:178342,Disorder,Disease,Inflammatory myofibroblastic tumor, +GARD:0007148,Orphanet,ORPHA:53698,Disorder,Disease,Hyaline body myopathy, +GARD:0007157,Orphanet,ORPHA:99967,Subtype of disorder,Histopathological subtype,Myxoid/round cell liposarcoma,MRCLS +GARD:0007158,Orphanet,ORPHA:927,Disorder,Disease,Hyperammonemia due to N-acetylglutamate synthase deficiency,NAGS deficiency +GARD:0007160,Orphanet,ORPHA:2614,Disorder,Malformation syndrome,Nail-patella syndrome,Onychoosteodysplasia|Turner-Kieser syndrome +GARD:0007161,Orphanet,ORPHA:627,Disorder,Malformation syndrome,Nance-Horan syndrome, +GARD:0007162,Orphanet,ORPHA:2073,Disorder,Disease,Narcolepsy type 1,Gélineau disease|Narcolepsy-cataplexy +GARD:0007163,Orphanet,ORPHA:150,Disorder,Disease,Nasopharyngeal carcinoma,Squamous cell carcinoma of the nasopharynx +GARD:0007166,Orphanet,ORPHA:377,Disorder,Malformation syndrome,Gorlin syndrome,Basal cell nevus syndrome|Gorlin-Goltz syndrome|NBCCS|Nevoid basal cell carcinoma syndrome +GARD:0007170,Orphanet,ORPHA:199244,Disorder,Clinical syndrome,Nelson syndrome, +GARD:0007171,Orphanet,ORPHA:171439,Disorder,Disease,Childhood-onset nemaline myopathy,Mild nemaline myopathy +GARD:0007172,Orphanet,ORPHA:446,Disorder,Disease,Neonatal hemochromatosis, +GARD:0007178,Orphanet,ORPHA:223,Disorder,Disease,Nephrogenic diabetes insipidus, +GARD:0007180,Orphanet,ORPHA:252131,Group of disorders,Category,Benign peripheral nerve sheath tumor,BPNST +GARD:0007182,Orphanet,ORPHA:634,Disorder,Disease,Netherton syndrome,Bamboo hair syndrome|Comèl-Netherton syndrome|NS +GARD:0007183,Orphanet,ORPHA:87876,Disorder,Disease,Sialidosis type 2,Infantile dysmorphic sialidosis +GARD:0007185,Orphanet,ORPHA:635,Disorder,Disease,Neuroblastoma, +GARD:0007186,Orphanet,ORPHA:2481,Disorder,Disease,Neurocutaneous melanocytosis,NCM|Neurocutaneous melanosis +GARD:0007190,Orphanet+OMIM,OMIM:604154,Subtype of disorder,Disease subtype,Alzheimer disease 15,Alzheimer disease without neurofibrillary tangles +GARD:0007191,Orphanet,ORPHA:252183,Disorder,Disease,Neurofibroma, +GARD:0007193,Orphanet,ORPHA:637,Disorder,Disease,Neurofibromatosis type 2,NF2 +GARD:0007195,Orphanet,ORPHA:94093,Disorder,Disease,Neuroleptic malignant syndrome, +GARD:0007201,Orphanet,ORPHA:83471,Disorder,Disease,Thymic aplasia,Nezelof syndrome +GARD:0007206,Orphanet,ORPHA:77292,Disorder,Disease,Infantile neurovisceral acid sphingomyelinase deficiency,Infantile neurovisceral ASMD|NPD-A|Niemann-Pick disease type A +GARD:0007207,Orphanet,ORPHA:646,Disorder,Disease,Niemann-Pick disease type C, +GARD:0007210,Orphanet,ORPHA:31204,Disorder,Disease,Nocardiosis, +GARD:0007219,Orphanet,ORPHA:407,Disorder,Disease,Glycine encephalopathy,NKA|Non-ketotic hyperglycinemia +GARD:0007220,Orphanet,ORPHA:79452,Disorder,Disease,Milroy disease,Hereditary lymphedema type I|Nonne-Milroy lymphedema +GARD:0007223,Orphanet+OMIM,OMIM:163950,Subtype of disorder,Malformation syndrome subtype,Noonan syndrome 1,female pseudo-turner syndrome|Noonan syndrome|turner phenotype with normal karyotype|male turner syndrome +GARD:0007224,Orphanet,ORPHA:649,Disorder,Malformation syndrome,Norrie disease,Atrophia bulborum hereditaria|Episkopi blindness|Norrie-Warburg disease +GARD:0007226,Orphanet,ORPHA:510,Disorder,Disease,Lesch-Nyhan syndrome,"HPRT complete deficiency|HPRT deficiency grade IV|Hypoxanthine guanine phosphoribosyltransferase complete deficiency|Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV" +GARD:0007239,Orphanet,ORPHA:2710,Disorder,Malformation syndrome,Oculodentodigital dysplasia,Meyer-Schwickerath syndrome|ODDD syndrome|Oculodentoosseous dysplasia +GARD:0007245,Orphanet,ORPHA:270,Disorder,Disease,Oculopharyngeal muscular dystrophy,OPMD +GARD:0007251,Orphanet,ORPHA:296,Disorder,Disease,Ollier disease,Dyschondroplasia +GARD:0007252,Orphanet,ORPHA:2737,Disorder,Disease,Onchocerciasis, +GARD:0007264,Orphanet,ORPHA:357154,Disorder,Disease,Oral submucous fibrosis,OSMF +GARD:0007269,Orphanet,ORPHA:147,Disorder,Disease,Carbamoyl-phosphate synthetase 1 deficiency,CPS1 deficiency|CPS1D|Carbamoyl-phosphate synthetase I deficiency|Carbamoyl-phosphate synthetase deficiency +GARD:0007284,Orphanet,ORPHA:668,Disorder,Disease,Osteosarcoma,Osteogenic sarcoma +GARD:0007295,Orphanet,ORPHA:213500,Group of disorders,Category,Ovarian cancer,Ovarian malignant tumor +GARD:0007296,Orphanet,ORPHA:213512,Disorder,Disease,Malignant mixed Müllerian tumor of the ovary,MMMT of the ovary|Ovarian carcinosarcoma|Ovarian malignant mixed Müllerian tumor|Ovarian malignant mixed epithelial mesenchymal tumor +GARD:0007299,Orphanet,ORPHA:2796,Disorder,Malformation syndrome,Pachydermoperiostosis,PDP|Touraine-Solente-Gole syndrome +GARD:0007303,Orphanet,ORPHA:180275,Disorder,Disease,Paget disease of the nipple,Mammary Paget disease|Paget disease of the breast|Paget's disease of the nipple +GARD:0007305,Orphanet,ORPHA:672,Disorder,Malformation syndrome,Pallister-Hall syndrome,Hypothalamic hamartoblastoma syndrome +GARD:0007312,Orphanet,ORPHA:66624,Disorder,Disease,PANDAS,Pediatric autoimmune disorders associated with Streptococcus infections|Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections +GARD:0007321,Orphanet,ORPHA:86795,Group of disorders,Clinical group,Localized lichen myxedematosus,Papular mucinosis +GARD:0007323,Orphanet,ORPHA:73260,Disorder,Disease,Paracoccidioidomycosis, +GARD:0007324,Orphanet+OMIM,OMIM:168000,Subtype of disorder,Disease subtype,Paragangliomas 1,"glomus jugulare tumors|paraganglioma, carotid body|chemodectomas|paragangliomata|paragangliomas, familial nonchromaffin, 1|Paragangliomas, familial, 1|glomus tumors, familial, 1|carotid body tumors" +GARD:0007325,Orphanet,ORPHA:684,Disorder,Disease,Paramyotonia congenita of Von Eulenburg,Paramyotonia congenita +GARD:0007326,Orphanet,ORPHA:36388,Group of disorders,Category,Paraneoplastic neurologic syndrome,PNS +GARD:0007329,Orphanet,ORPHA:143,Disorder,Disease,Parathyroid carcinoma, +GARD:0007335,Orphanet,ORPHA:90035,Disorder,Disease,Paroxysmal cold hemoglobinuria,Donath-Landsteiner hemolytic anemia|Donath-Landsteiner syndrome|PCH +GARD:0007337,Orphanet,ORPHA:447,Disorder,Disease,Paroxysmal nocturnal hemoglobinuria,Marchiafava-Micheli disease|PNH +GARD:0007338,Orphanet,ORPHA:1214,Disorder,Disease,Progressive hemifacial atrophy,Hemifacial atrophy|PHA|Parry-Romberg syndrome|Progressive facial hemiatrophy|Romberg syndrome +GARD:0007341,Orphanet,ORPHA:3378,Disorder,Malformation syndrome,Trisomy 13,Patau syndrome +GARD:0007342,Orphanet+OMIM,OMIM:607411,Subtype of disorder,Morphological anomaly subtype,Patent ductus arteriosus 1, +GARD:0007343,Orphanet,ORPHA:699,Disorder,Disease,Pearson syndrome, +GARD:0007347,Orphanet,ORPHA:817,Group of disorders,Clinical group,Peeling skin syndrome,Deciduous skin|Familial continuous skin peeling syndrome|Idiopathic deciduous skin|Keratosis exfoliativa congenita|PSS|Peeling skin disease +GARD:0007354,Orphanet,ORPHA:79481,Disorder,Disease,Pemphigus foliaceus, +GARD:0007355,Orphanet,ORPHA:704,Disorder,Disease,Pemphigus vulgaris, +GARD:0007359,Orphanet,ORPHA:1335,Disorder,Malformation syndrome,Pentalogy of Cantrell,Cantrell deformity|Cantrell syndrome|Thoraco-abdominal syndrome +GARD:0007360,Orphanet,ORPHA:767,Disorder,Disease,Polyarteritis nodosa,Küssmaul-Maier disease|PAN|Periarteritis nodosa +GARD:0007371,Orphanet+OMIM,OMIM:300049,Subtype of disorder,Clinical subtype,Periventricular nodular heterotopia 1,"periventricular nodular heterotopia 4, formerly|heterotopia, familial nodular|nodular heterotopia, bilateral periventricular|heterotopia, periventricular, ehlers-danlos variant|Heterotopia, periventricular, x-linked dominant" +GARD:0007377,Orphanet,ORPHA:708,Disorder,Morphological anomaly,Peters anomaly,Peters congenital glaucoma +GARD:0007378,Orphanet,ORPHA:2869,Disorder,Disease,Peutz-Jeghers syndrome,Hamartomatous intestinal polyposis|PJS +GARD:0007380,Orphanet,ORPHA:710,Disorder,Malformation syndrome,Pfeiffer syndrome,ACS5|Acrocephalosyndactyly type 5 +GARD:0007381,Orphanet,ORPHA:526,Disorder,Disease,Liddle syndrome,Pseudoaldosteronism|Pseudohyperaldosteronism type 1 +GARD:0007383,Orphanet,ORPHA:716,Disorder,Disease,Phenylketonuria,PAH deficiency|PKU|Phenylalanine hydroxylase deficiency +GARD:0007385,Orphanet,ORPHA:276621,Disorder,Disease,Sporadic pheochromocytoma/secreting paraganglioma, +GARD:0007387,Orphanet,ORPHA:3103,Disorder,Malformation syndrome,Roberts syndrome,Pseudothalidomide syndrome|Roberts-SC phocomelia syndrome|SC phocomelia|SC pseudothalidomide syndrome +GARD:0007389,Orphanet,ORPHA:713,Disorder,Disease,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,GSD due to phosphoglycerate kinase 1 deficiency|Glycogenosis due to phosphoglycerate kinase 1 deficiency +GARD:0007392,Orphanet,ORPHA:275864,Disorder,Disease,Behavioral variant of frontotemporal dementia,bv-FTD +GARD:0007396,Orphanet,ORPHA:66627,Disorder,Disease,Tenosynovial giant cell tumor,Diffuse-type GCT|Diffuse-type giant cell tumor|Pigmented villonodular synovitis|TGCT|TSGCT +GARD:0007399,Orphanet,ORPHA:231662,Subtype of disorder,Clinical subtype,Isolated growth hormone deficiency type IA,Congenital IGHD type IA|Congenital isolated GH deficiency type IA|Congenital isolated growth hormone deficiency type IA +GARD:0007401,Orphanet,ORPHA:2897,Disorder,Disease,Pityriasis rubra pilaris, +GARD:0007403,Orphanet,ORPHA:99928,Disorder,Disease,Placental site trophoblastic tumor,PSST +GARD:0007411,Orphanet,ORPHA:2905,Disorder,Disease,POEMS syndrome,Crow-Fukase syndrome|Osteosclerotic myeloma|PEP syndrome|Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome|Takatsuki syndrome +GARD:0007412,Orphanet,ORPHA:2911,Disorder,Malformation syndrome,Poland syndrome,Poland anomaly|Poland sequence +GARD:0007413,Orphanet,ORPHA:2912,Disorder,Disease,Poliomyelitis, +GARD:0007415,Orphanet,ORPHA:439729,Subtype of disorder,Clinical subtype,Cutaneous polyarteritis nodosa,Cutaneous PAN|Cutaneous periarteritis nodosa +GARD:0007417,Orphanet,ORPHA:728,Disorder,Disease,Relapsing polychondritis,Polychondropathia +GARD:0007422,Orphanet,ORPHA:729,Disorder,Disease,Polycythemia vera,Acquired primary erythrocytosis|Osler-Vaquez disease|PV|Polycythemia rubra vera|Vaquez disease +GARD:0007425,Orphanet,ORPHA:732,Disorder,Disease,Polymyositis, +GARD:0007430,Orphanet,ORPHA:2940,Disorder,Disease,Porencephaly, +GARD:0007433,Orphanet,ORPHA:101330,Disorder,Disease,Porphyria cutanea tarda,PCT +GARD:0007439,Orphanet,ORPHA:93110,Disorder,Morphological anomaly,Posterior urethral valve,PUV +GARD:0007446,Orphanet,ORPHA:95708,Group of disorders,Category,Rare precocious puberty, +GARD:0007459,Orphanet,ORPHA:186,Disorder,Disease,Primary biliary cholangitis,Hanot syndrome|PBC|Primary biliary cirrhosis +GARD:0007467,Orphanet,ORPHA:740,Disorder,Disease,Hutchinson-Gilford progeria syndrome,HGPS|Progeria +GARD:0007468,Orphanet,ORPHA:217260,Disorder,Disease,Progressive multifocal leukoencephalopathy,PML|Progressive multifocal leukoencephalitis +GARD:0007471,Orphanet,ORPHA:683,Disorder,Disease,Progressive supranuclear palsy,PSP syndrome +GARD:0007473,Orphanet,ORPHA:742,Disorder,Disease,Prolidase deficiency,Hyperimidodipeptiduria +GARD:0007475,Orphanet,ORPHA:744,Disorder,Malformation syndrome,Proteus syndrome,Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome +GARD:0007479,Orphanet,ORPHA:2970,Disorder,Malformation syndrome,Prune belly syndrome,Abdominal muscle deficiency syndrome|Eagle-Barret syndrome|Obrinsky syndrome|Triad syndrome +GARD:0007482,Orphanet,ORPHA:132,Disorder,Disease,Butyrylcholinesterase deficiency,Pseudocholinesterase deficiency +GARD:0007486,Orphanet,ORPHA:79443,Disorder,Disease,Pseudohypoparathyroidism type 1A,AHO-PHP syndrome Ia|Albright hereditary osteodystrophy-PHP syndrome Ia +GARD:0007488,Orphanet,ORPHA:26790,Disorder,Disease,Pseudomyxoma peritonei,Adenomucinosis|Gelatinous ascites|PMP +GARD:0007499,Orphanet,ORPHA:747,Disorder,Disease,Autoimmune pulmonary alveolar proteinosis,Autoimmune PAP|aPAP +GARD:0007501,Orphanet,ORPHA:182090,Group of disorders,Category,Pulmonary arterial hypertension,PAH +GARD:0007503,Orphanet,ORPHA:580951,Disorder,Disease,Punctate inner choroidopathy, +GARD:0007510,Orphanet,ORPHA:48104,Disorder,Disease,Pyoderma gangrenosum, +GARD:0007512,Orphanet,ORPHA:3008,Disorder,Disease,Pyruvate carboxylase deficiency,Ataxia with lactic acidosis type 2|Ataxia with lactic acidosis type II|Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|Leigh syndrome due to PC deficiency|Leigh syndrome due to pyruvate carboxylase deficiency +GARD:0007513,Orphanet,ORPHA:765,Disorder,Disease,Pyruvate dehydrogenase deficiency,PDH|PDHC|Pyruvate dehydrogenase complex deficiency +GARD:0007514,Orphanet,ORPHA:766,Disorder,Disease,Hemolytic anemia due to red cell pyruvate kinase deficiency,Pyruvate kinase deficiency of erythrocytes +GARD:0007515,Orphanet,ORPHA:781,Disorder,Disease,Q fever,Coxiellosis|Infection due to Coxiella burnetii|Nine Mile fever|Quadrilateral fever|Query fever +GARD:0007516,Orphanet,ORPHA:770,Disorder,Disease,Rabies, +GARD:0007523,Orphanet,ORPHA:3019,Disorder,Malformation syndrome,Ramon syndrome,Cherubism-gingival fibromatosis-intellectual disability syndrome +GARD:0007525,Orphanet,ORPHA:3020,Disorder,Disease,Ramsay Hunt syndrome,Facial nerve palsy due to VZV|Facial nerve palsy due to herpes zoster infection|Facial nerve paralysis due to VZV +GARD:0007548,Orphanet,ORPHA:69076,Disorder,Disease,Familial renal glucosuria,Familial renal glycosuria|SGLT2 deficiency +GARD:0007552,Orphanet,ORPHA:314822,Group of disorders,Clinical group,Primary renal tubular acidosis, +GARD:0007563,Orphanet,ORPHA:790,Disorder,Disease,Retinoblastoma, +GARD:0007570,Orphanet,ORPHA:3096,Disorder,Disease,Reye syndrome, +GARD:0007572,Orphanet,ORPHA:69077,Disorder,Disease,Rhabdoid tumor,Malignant rhabdoid tumor +GARD:0007581,Orphanet,ORPHA:1764,Disorder,Disease,Familial dysautonomia,HSAN3|Hereditary sensory and autonomic neuropathy type 3|Hereditary sensory and autonomic neuropathy type III|Riley-Day syndrome +GARD:0007585,Orphanet,ORPHA:83311,Disorder,Disease,Rocky Mountain spotted fever, +GARD:0007588,Orphanet,ORPHA:158014,Disorder,Disease,Rosaï-Dorfman disease,Destombes-Rosaï-Dorfman disease|Rosaï-Dorfman-Destombes disease|SHML|Sinus histiocytosis with massive lymphadenopathy +GARD:0007593,Orphanet,ORPHA:783,Disorder,Malformation syndrome,Rubinstein-Taybi syndrome,Broad thumb-hallux syndrome|Broad thumbs-halluces syndrome +GARD:0007598,Orphanet,ORPHA:794,Disorder,Malformation syndrome,Saethre-Chotzen syndrome,ACS3|Acrocephalosyndactyly type 3|SCS +GARD:0007604,Orphanet,ORPHA:309155,Subtype of disorder,Clinical subtype,"Sandhoff disease, infantile form","Hexosaminidases A and B deficiency, infantile form|Infantile GM2 gangliosidosis 0 variant" +GARD:0007606,Orphanet,ORPHA:793,Disorder,Disease,SAPHO syndrome,Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome +GARD:0007607,Orphanet,ORPHA:797,Disorder,Disease,Sarcoidosis,Besnier-Boeck-Schaumann disease|Boeck sarcoid +GARD:0007608,Orphanet,ORPHA:431272,Disorder,Disease,X-linked scapuloperoneal muscular dystrophy,X-linked SPMD|X-linked scapuloperoneal syndrome +GARD:0007610,Orphanet,ORPHA:3135,Disorder,Malformation syndrome,Familial Scheuermann disease,Familial Scheuermann juvenile kyphosis|Familial spinal osteochondrosis +GARD:0007611,Orphanet,ORPHA:3143,Disorder,Disease,Autoimmune polyendocrinopathy type 2,APS type 2|APS2|Autoimmune polyendocrine syndrome type 2|Autoimmune polyglandular syndrome type 2|Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome|Schmidt syndrome +GARD:0007615,Orphanet,ORPHA:167635,Disorder,Disease,Scleromyxedema,Arndt-Gottron disease|Generalized lichenoid papular eruption|Generalized papular and sclerodermoid lichen myxedematosus +GARD:0007617,Orphanet,ORPHA:454745,Disorder,Disease,Kuru, +GARD:0007627,Orphanet,ORPHA:3157,Disorder,Malformation syndrome,Septo-optic dysplasia spectrum,De Morsier syndrome|SOD|Septo-optic dysplasia +GARD:0007628,Orphanet,ORPHA:183660,Group of disorders,Clinical group,Severe combined immunodeficiency,SCID +GARD:0007629,Orphanet,ORPHA:3162,Disorder,Disease,Sézary syndrome,Sézary lymphoma +GARD:0007630,Orphanet,ORPHA:91355,Disorder,Malformation syndrome,Sheehan syndrome, +GARD:0007633,Orphanet,ORPHA:3163,Disorder,Malformation syndrome,SHORT syndrome,Lipodystrophy-Rieger anomaly-diabetes syndrome|Rieger anomaly-partial lipodystrophy syndrome +GARD:0007639,Orphanet,ORPHA:812,Disorder,Disease,Sialidosis type 1,Cherry-red spot-myoclonus syndrome|Lipomucopolysaccharidosis|Normomorphic sialidosis +GARD:0007649,Orphanet,ORPHA:373,Disorder,Malformation syndrome,Simpson-Golabi-Behmel syndrome,DGSX|Golabi-Rosen syndrome|SDYS|SGBS|SGBS1|Simpson dysmorphia syndrome|Simpson-Golabi-Behmel syndrome type 1|X-linked dysplasia gigantism syndrome +GARD:0007652,Orphanet,ORPHA:3169,Disorder,Malformation syndrome,Sirenomelia, +GARD:0007653,Orphanet,ORPHA:2882,Disorder,Disease,Sitosterolemia,Phytosterolemia +GARD:0007654,Orphanet,ORPHA:816,Disorder,Disease,Sjögren-Larsson syndrome,Fatty acid alcohol oxidoreductase deficiency +GARD:0007664,Orphanet,ORPHA:820,Disorder,Disease,Sneddon syndrome,Ehrmann-Sneddon syndrome|Livedo racemosa-cerebrovascular accident syndrome|Livedo reticularis-cerebrovascular accident syndrome +GARD:0007672,Orphanet,ORPHA:79225,Group of disorders,Category,Sphingolipidosis, +GARD:0007673,Orphanet,ORPHA:823,Group of disorders,Clinical group,Isolated spina bifida, +GARD:0007687,Orphanet,ORPHA:253,Group of disorders,Clinical group,Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia,SED and SEMD +GARD:0007690,Orphanet,ORPHA:356,Disorder,Disease,Gerstmann-Straussler-Scheinker syndrome,"Subacute spongiform encephalopathy, Gerstmann-Straussler type" +GARD:0007692,Orphanet,ORPHA:826,Disorder,Disease,Sporotrichosis, +GARD:0007693,Orphanet,ORPHA:3181,Disorder,Morphological anomaly,Sprengel deformity,High scapula +GARD:0007695,Orphanet,ORPHA:22,Disorder,Disease,Succinic semialdehyde dehydrogenase deficiency,4-hydroxybutyric aciduria|Gamma-hydroxybutyric aciduria|SSADH deficiency +GARD:0007700,Orphanet,ORPHA:36426,Subtype of disorder,Clinical subtype,Stevens-Johnson syndrome,"Dermatostomatitis, Stevens Johnson type" +GARD:0007706,Orphanet,ORPHA:3205,Disorder,Malformation syndrome,Sturge-Weber syndrome,Encephalofacial angiomatosis|Encephalotrigeminal angiomatosis|SWS|Sturge-Weber-Dimitri syndrome|Sturge-Weber-Krabbe angiomatosis|Sturge-Weber-Krabbe syndrome +GARD:0007708,Orphanet,ORPHA:2806,Disorder,Disease,Subacute sclerosing leukoencephalitis,Dawson encephalitis|SSPE|Subacute inclusion body encephalitis|Subacute sclerosing panencephalitis|Van Bogaert disease|Van Bogaert encephalitis +GARD:0007710,Orphanet,ORPHA:35122,Disorder,Disease,Congenital sucrase-isomaltase deficiency,CSID|Congenital sucrose intolerance|Disaccharide intolerance +GARD:0007712,Orphanet,ORPHA:622099,Disorder,Disease,Superior mesenteric artery syndrome,SMAS|Wilkie syndrome +GARD:0007713,Orphanet,ORPHA:838,Disorder,Disease,Susac syndrome,Retinocochleocerebral vasculopathy +GARD:0007716,Orphanet,ORPHA:306731,Disorder,Particular clinical situation in a disease or syndrome,Sydenham chorea, +GARD:0007721,Orphanet,ORPHA:3273,Disorder,Disease,Synovial sarcoma,Synovialosarcoma +GARD:0007725,Orphanet,ORPHA:3280,Group of disorders,Clinical group,Syringomyelia,Hydromyelia +GARD:0007730,Orphanet,ORPHA:3287,Disorder,Disease,Takayasu arteritis, +GARD:0007731,Orphanet,ORPHA:31150,Disorder,Disease,Tangier disease,ATP-binding cassette transporter A1 deficiency|Analphalipoproteinemia +GARD:0007737,Orphanet,ORPHA:845,Disorder,Disease,Tay-Sachs disease,"GM2 gangliosidosis, B, B1 variant|Hexosaminidase A deficiency" +GARD:0007743,Orphanet,ORPHA:95455,Disorder,Disease,Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,SJS-TEN|Toxic epidermolysis +GARD:0007751,Orphanet,ORPHA:238583,Disorder,Disease,Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,Hyperphenylalaninemia due to BH4 deficiency|Non-phenylketonuric hyperphenylalaninemia +GARD:0007754,Orphanet,ORPHA:9,Disorder,Malformation syndrome,Tetrasomy X,"48,XXXX syndrome|Quadruple X|Tetra X" +GARD:0007759,Orphanet,ORPHA:97330,Disorder,Disease,Thoracic outlet syndrome,TOS|Thoracic outlet compression syndrome +GARD:0007772,Orphanet,ORPHA:42665,Disorder,Malformation syndrome,Tietz syndrome,Hypopigmentation-deafness syndrome|Hypopigmentation-hearing loss syndrome +GARD:0007777,Orphanet,ORPHA:64686,Disorder,Disease,Tolosa-Hunt syndrome,Painful ophthalmoplegia +GARD:0007784,Orphanet,ORPHA:857,Disorder,Malformation syndrome,Townes-Brocks syndrome,"Imperforate anus-hand, foot and ear anomalies syndrome|REAR syndrome|Renal-ear-anal-radial syndrome|Sensorineural deafness with imperforate anus and hypoplastic thumbs|Sensorineural hearing loss with imperforate anus and hypoplastic thumbs|TBS|Townes syndrome" +GARD:0007793,Orphanet,ORPHA:98871,Disorder,Disease,Transient erythroblastopenia of childhood,Transient acquired pure red cell aplasia +GARD:0007795,Orphanet,ORPHA:216675,Group of disorders,Category,Transposition of the great arteries,Complete transposition|TGA|TGV|Transposition of the great vessels +GARD:0007799,Orphanet,ORPHA:3352,Disorder,Malformation syndrome,Tricho-dento-osseous syndrome,TDO syndrome +GARD:0007800,Orphanet+OMIM,OMIM:190350,Subtype of disorder,Malformation syndrome subtype,"Trichorhinophalangeal syndrome, type i",Trps i +GARD:0007801,Orphanet,ORPHA:502,Disorder,Malformation syndrome,Trichorhinophalangeal syndrome type 2,Deletion 8q24.1|Langer-Giedion syndrome|Monosomy 8q24.1 +GARD:0007802,Orphanet+OMIM,OMIM:190351,Subtype of disorder,Malformation syndrome subtype,"Trichorhinophalangeal syndrome, type iii",Sugio-kajii syndrome +GARD:0007805,Orphanet,ORPHA:221091,Disorder,Disease,Trigeminal neuralgia, +GARD:0007826,Orphanet,ORPHA:3385,Disorder,Disease,African trypanosomiasis,Sleeping sickness +GARD:0007827,Orphanet,ORPHA:3389,Disorder,Disease,Tuberculosis, +GARD:0007828,Orphanet,ORPHA:499004,Disorder,Disease,Tuberculous meningitis,TBM|Tubercular meningitis +GARD:0007830,Orphanet,ORPHA:805,Disorder,Disease,Tuberous sclerosis complex,Bourneville syndrome|Tuberous sclerosis +GARD:0007831,Orphanet,ORPHA:881,Disorder,Malformation syndrome,Turner syndrome,"45,X syndrome|45,X/46,XX syndrome" +GARD:0007837,Orphanet,ORPHA:79167,Group of disorders,Category,Disorder of urea cycle metabolism and ammonia detoxification, +GARD:0007842,Orphanet,ORPHA:66646,Group of disorders,Clinical group,Cutaneous mastocytosis, +GARD:0007843,Orphanet,ORPHA:886,Disorder,Disease,Usher syndrome,Retinitis pigmentosa-deafness syndrome|Retinitis pigmentosa-hearing loss syndrome|USH +GARD:0007846,Orphanet+OMIM,OMIM:606713,Subtype of disorder,Malformation syndrome subtype,Van der woude syndrome 2, +GARD:0007848,Orphanet,ORPHA:79473,Disorder,Disease,Porphyria variegata,Protoporphyrinogen oxidase deficiency|Variegate porphyria +GARD:0007851,Orphanet,ORPHA:889,Disorder,Disease,Cutaneous small vessel vasculitis,Cutaneous hypersensitivity vasculitis +GARD:0007854,Orphanet,ORPHA:70476,Disorder,Disease,Vernal keratoconjunctivitis,Spring catarrh +GARD:0007855,Orphanet,ORPHA:892,Disorder,Disease,Von Hippel-Lindau disease,Familial cerebelloretinal angiomatosis|Lindau disease|VHL|Von Hippel-Lindau syndrome +GARD:0007857,Orphanet,ORPHA:158048,Disorder,Particular clinical situation in a disease or syndrome,Hemophagocytic syndrome associated with an infection,IAHS|VAHS|Virus-associated hemophagocytic syndrome +GARD:0007860,Orphanet,ORPHA:79445,Disorder,Disease,Pseudopseudohypoparathyroidism,AHO-PPHP syndrome|Albright hereditary osteodystrophy-PPHP syndrome +GARD:0007862,Orphanet,ORPHA:3437,Disorder,Disease,Vogt-Koyanagi-Harada disease,Uveomenigitic syndrome +GARD:0007864,Orphanet,ORPHA:79258,Subtype of disorder,Clinical subtype,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,G6P deficiency type 1a|GSD due to G6P deficiency type 1a|GSD due to G6P deficiency type Ia|GSD type 1a|GSDIa|Glycogen storage disease due to G6P deficiency type Ia|Glycogen storage disease type 1a|Glycogenosis due to glucose-6-phosphatase deficiency type 1a|Glycogenosis due to glucose-6-phosphatase deficiency type Ia|Glycogenosis type Ia +GARD:0007866,Orphanet,ORPHA:636,Disorder,Disease,Neurofibromatosis type 1,NF1|Von Recklinghausen disease +GARD:0007867,Orphanet,ORPHA:903,Disorder,Disease,Von Willebrand disease,Hereditary von Willebrand disease +GARD:0007871,Orphanet,ORPHA:898,Disorder,Disease,Wagner disease,"Dominant hyaloideoretinal dystrophy of Wagner|VCAN-related vitreoretinopathy|Vitreoretinal degeneration, Wagner type|Wagner syndrome" +GARD:0007872,Orphanet,ORPHA:33226,Disorder,Disease,Waldenström macroglobulinemia, +GARD:0007873,Orphanet,ORPHA:90362,Disorder,Disease,Primary intestinal lymphangiectasia,Waldmann disease +GARD:0007876,Orphanet,ORPHA:90033,Disorder,Disease,"Autoimmune hemolytic anemia, warm type",Warm AIHA|wAHA|wAIHA +GARD:0007878,Orphanet,ORPHA:3447,Disorder,Malformation syndrome,Weaver syndrome,Camptodactyly-overgrowth-unusual facies syndrome +GARD:0007879,Orphanet,ORPHA:33577,Disorder,Disease,Nodular non-suppurative panniculitis,Idiopathic lobular panniculitis|Idiopathic nodular panniculitis|Pfeiffer-Weber-Christian syndrome|Relapsing febrile nodular nonsuppurative panniculitis|Relapsing febrile nodular panniculitis|WCD|Weber-Christian disease|Weber-Christian panniculitis +GARD:0007880,Orphanet,ORPHA:900,Disorder,Disease,Granulomatosis with polyangiitis,GPA +GARD:0007881,Orphanet,ORPHA:509,Disorder,Disease,Leptospirosis, +GARD:0007883,Orphanet,ORPHA:83330,Subtype of disorder,Clinical subtype,Proximal spinal muscular atrophy type 1,Infantile spinal muscular atrophy|Infantile-onset spinal muscular atrophy|SMA type 1|SMA type I|SMA-I|SMA1|Werdnig-Hoffmann disease +GARD:0007885,Orphanet,ORPHA:902,Disorder,Disease,Werner syndrome,Adult progeria|WS +GARD:0007887,Orphanet,ORPHA:3451,Disorder,Clinical syndrome,Infantile spasms syndrome,West syndrome +GARD:0007888,Orphanet,ORPHA:83593,Disorder,Disease,Western equine encephalitis,Western equine encephalomyelitis +GARD:0007889,Orphanet,ORPHA:3452,Disorder,Disease,Whipple disease,Intestinal lipodystrophy +GARD:0007890,Orphanet,ORPHA:3454,Disorder,Malformation syndrome,Intellectual disability-developmental delay-contractures syndrome,Foot contractures-muscle atrophy-oculomotor apraxia syndrome|Wieacker-Wolff syndrome +GARD:0007891,Orphanet,ORPHA:904,Disorder,Malformation syndrome,Williams syndrome,Deletion 7q11.23|Monosomy 7q11.23|Williams-Beuren syndrome +GARD:0007892,Orphanet,ORPHA:654,Disorder,Disease,Nephroblastoma,Renal embryonic tumor|Wilms tumor +GARD:0007893,Orphanet,ORPHA:905,Disorder,Disease,Wilson disease,Hepatolenticular degeneration +GARD:0007894,Orphanet+OMIM,OMIM:277950,Subtype of disorder,Disease subtype,Winchester syndrome, +GARD:0007895,Orphanet,ORPHA:906,Disorder,Disease,Wiskott-Aldrich syndrome,Eczema-thrombocytopenia-immunodeficiency syndrome|WAS +GARD:0007896,Orphanet,ORPHA:280,Disorder,Malformation syndrome,Wolf-Hirschhorn syndrome,4p- syndrome|Distal deletion 4p|Distal monosomy 4p|Telomeric deletion 4p +GARD:0007898,Orphanet,ORPHA:3463,Disorder,Disease,Wolfram syndrome,DIDMOAD syndrome|Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome|Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome +GARD:0007899,Orphanet,ORPHA:75233,Subtype of disorder,Clinical subtype,Wolman disease, +GARD:0007900,Orphanet,ORPHA:53719,Disorder,Malformation syndrome,Wyburn-Mason syndrome,Bonnet-Dechaume-Blanc syndrome|CAMS2|Cerebrofacial arteriovenous metameric syndrome type 2 +GARD:0007904,Orphanet,ORPHA:461,Disorder,Disease,Recessive X-linked ichthyosis,RXLI|Steroid sulfatase deficiency|X-linked ichthyosis|XLI +GARD:0007906,Orphanet,ORPHA:538931,Disorder,Disease,X-linked lymphoproliferative disease due to SH2D1A deficiency,SAP deficiency|SH2D1A/SLAM-associated protein deficiency|X-linked lymphoproliferative syndrome type 1|XLP1 +GARD:0007910,Orphanet,ORPHA:910,Disorder,Disease,Xeroderma pigmentosum, +GARD:0007914,Orphanet,ORPHA:99829,Disorder,Disease,Yellow fever,Bronze John|YF|Yellow Jack +GARD:0007917,Orphanet,ORPHA:912,Disorder,Disease,Zellweger syndrome,Cerebrohepatorenal syndrome|Severe PBD-ZSD|Severe peroxisome biogenesis disorder-Zellweger spectrum disorder|ZS +GARD:0007918,Orphanet,ORPHA:913,Disorder,Disease,Zollinger-Ellison syndrome,Gastrinoma +GARD:0007922,Orphanet,ORPHA:98473,Group of disorders,Category,Muscular dystrophy, +GARD:0008169,Orphanet,ORPHA:238593,Subtype of disorder,Clinical subtype,IgG4-related mesenteritis,Isolated mesenteric lipodystrophy|Lipomatous mesenteritis|Liposclerotic mesenteritis|Mesenteric lipogranuloma|Mesenteric panniculitis|Sclerosing mesenteritis +GARD:0008173,Orphanet,ORPHA:15,Disorder,Disease,Achondroplasia, +GARD:0008174,Orphanet,ORPHA:1547,Disorder,Malformation syndrome,Cryptomicrotia-brachydactyly-excess fingertip arch syndrome,Cryptomicrotia-brachydactyly syndrome|Tonoki-Ohura-Niikawa syndrome +GARD:0008178,Orphanet+OMIM,OMIM:604379,Subtype of disorder,Disease subtype,Hypotrichosis 7,"hypotrichosis, autosomal recessive|hypotrichosis, total, mari type|Hypotrichosis, localized, autosomal recessive 2" +GARD:0008182,Orphanet,ORPHA:3250,Disorder,Malformation syndrome,Proximal symphalangism,"Symphalangism, Cushing type" +GARD:0008189,Orphanet,ORPHA:2445,Group of disorders,Category,Conotruncal heart malformations, +GARD:0008194,Orphanet,ORPHA:1560,Disorder,Disease,Cysticercosis, +GARD:0008195,Orphanet,ORPHA:76,Disorder,Disease,Strongyloidiasis,Anguilluliasis|Anguillulosis +GARD:0008197,Orphanet,ORPHA:819,Disorder,Malformation syndrome,Smith-Magenis syndrome,17p11.2 microdeletion syndrome +GARD:0008198,Orphanet,ORPHA:39041,Disorder,Disease,Omenn syndrome,Combined immunodeficiency with hypereosinophilia +GARD:0008204,Orphanet,ORPHA:761,Disorder,Disease,Immunoglobulin A vasculitis,Anaphylactoid purpura|Henoch-Schönlein purpura|IgA vasculitis|Purpura rheumatica|Rheumatoid purpura +GARD:0008206,Orphanet,ORPHA:1023,Subtype of disorder,Clinical subtype,"Congenital generalized hypertrichosis, Ambras type",Ambras syndrome +GARD:0008207,Orphanet,ORPHA:251912,Disorder,Disease,Pineocytoma, +GARD:0008208,Orphanet,ORPHA:289326,Disorder,Disease,Tropical spastic paraparesis,HAM/TSP|HTLV-1-associated myelopathy/tropical spastic paraparesis|Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis|Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis|TSP +GARD:0008214,Orphanet,ORPHA:501,Disorder,Disease,Lafora disease,EPM2|PME type 2|Progressive myoclonic epilepsy type 2|Progressive myoclonus epilepsy type 2 +GARD:0008216,Orphanet,ORPHA:2459,Disorder,Disease,Mansonelliasis,Mansonellosis +GARD:0008223,Orphanet,ORPHA:86852,Disorder,Disease,B-cell prolymphocytic leukemia,B-PLL +GARD:0008225,Orphanet,ORPHA:98823,Disorder,Disease,Chronic myelomonocytic leukemia,CMML +GARD:0008231,Orphanet,ORPHA:157987,Group of disorders,Clinical group,Non-Langerhans cell histiocytosis, +GARD:0008232,Orphanet,ORPHA:252054,Disorder,Disease,Hemangioblastoma, +GARD:0008233,Orphanet,ORPHA:355,Disorder,Disease,Gaucher disease,Acid beta-glucosidase deficiency|Glucocerebrosidase deficiency +GARD:0008234,Orphanet,ORPHA:47612,Disorder,Disease,Felty syndrome,Splenomegaly-neutropenia-rheumatoid arthritis syndrome +GARD:0008238,Orphanet,ORPHA:251899,Disorder,Disease,Choroid plexus carcinoma, +GARD:0008240,Orphanet+OMIM,OMIM:145300,Subtype of disorder,Disease subtype,"Hypersensitivity pneumonitis, familial", +GARD:0008241,Orphanet,ORPHA:158029,Disorder,Disease,Sea-blue histiocytosis, +GARD:0008249,Orphanet,ORPHA:75564,Disorder,Disease,Acquired idiopathic sideroblastic anemia,AISA|Primary acquired sideroblastic anemia|RARS|Refractory anemia with ringed sideroblasts +GARD:0008254,Orphanet,ORPHA:319266,Disorder,Disease,Omsk hemorrhagic fever, +GARD:0008257,Orphanet,ORPHA:319254,Disorder,Disease,Kyasanur forest disease,Kyasanur hemorrhagic fever|Monkey disease|Monkey fever +GARD:0008259,Orphanet,ORPHA:54028,Disorder,Disease,Plummer-Vinson syndrome,Kelly-Paterson syndrome|Sideropenic dysphagia +GARD:0008270,Orphanet,ORPHA:2349,Disorder,Disease,Muscular pseudohypertrophy-hypothyroidism syndrome,Hoffmann syndrome|Kocher-Debré-Semelaigne syndrome +GARD:0008275,Orphanet,ORPHA:50943,Disorder,Disease,Keratolytic winter erythema,Erythrokeratolysis hiemalis|Oudtshoorn disease +GARD:0008282,Orphanet,ORPHA:85450,Disorder,Disease,Hereditary amyloidosis with primary renal involvement,"Amyloidosis, Ostertag type|Familial amyloid nephropathy|Familial renal amyloidosis|Hereditary amyloid nephropathy|Hereditary renal amyloidosis" +GARD:0008283,Orphanet+OMIM,OMIM:606129,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 2, +GARD:0008295,Orphanet,ORPHA:1460,Disorder,Disease,Isolated complex III deficiency,Isolated CoQ-cytochrome C reductase deficiency|Isolated coenzyme Q-cytochrome C reductase deficiency|Isolated mitochondrial respiratory chain complex III deficiency|Isolated ubiquinone-cytochrome C reductase deficiency +GARD:0008309,Orphanet,ORPHA:988,Disorder,Malformation syndrome,Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,Absent tibia-polydactyly syndrome|Werner mesomelic spectrum +GARD:0008310,Orphanet,ORPHA:273,Disorder,Disease,Steinert myotonic dystrophy,Myotonic dystrophy type 1|Steinert disease +GARD:0008312,Orphanet,ORPHA:52530,Disorder,Disease,Pseudo-von Willebrand disease,PT-VWD|Platelet type-von Willebrand disease|Pseudo-von Willebrand disease type 2B +GARD:0008317,Orphanet,ORPHA:98289,Group of disorders,Category,Dendritic cell tumor, +GARD:0008329,Orphanet,ORPHA:56304,Disorder,Malformation syndrome,Atelosteogenesis type II,AO2|AOII|Atelosteogenesis type 2|De la Chapelle dysplasia|Neonatal osseous dysplasia type 1 +GARD:0008331,Orphanet,ORPHA:52368,Disorder,Disease,Mohr-Tranebjaerg syndrome,DDON syndrome|Deafness-dystonia-optic neuronopathy syndrome|Hearing loss-dystonia-optic neuronopathy syndrome +GARD:0008333,Orphanet,ORPHA:69739,Disorder,Disease,Athabaskan brainstem dysgenesis syndrome,ABSD|Athabascan brainstem dysgenesis syndrome|Navajo brainstem syndrome +GARD:0008334,Orphanet,ORPHA:98902,Disorder,Disease,Amish nemaline myopathy, +GARD:0008337,Orphanet,ORPHA:63999,Subtype of disorder,Clinical subtype,IgG4-related mediastinitis,Fibrosing mediastinitis|Mediastinal fibrosis|Sclerosing mediastinitis +GARD:0008338,Orphanet,ORPHA:42775,Disorder,Malformation syndrome,PHACE syndrome,PHACES syndrome|Pascual-Castroviejo syndrome type 2 +GARD:0008341,Orphanet,ORPHA:559,Disorder,Disease,Marinesco-Sjögren syndrome, +GARD:0008343,Orphanet,ORPHA:168544,Disorder,Disease,"Spondylometaphyseal dysplasia, Golden type",X-linked spondylometaphyseal dysplasia +GARD:0008344,Orphanet,ORPHA:97345,Subtype of disorder,Clinical subtype,ABri amyloidosis,"Familial dementia, British type" +GARD:0008345,Orphanet,ORPHA:220436,Disorder,Disease,Quebec platelet disorder,Factor V Quebec +GARD:0008349,Orphanet,ORPHA:100033,Subtype of disorder,Clinical subtype,Hypomaturation amelogenesis imperfecta,Amelogenesis imperfecta type 2 +GARD:0008360,Orphanet,ORPHA:85332,Disorder,Disease,X-linked intellectual disability-retinitis pigmentosa syndrome,Aldred syndrome|Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion|Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)|Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 +GARD:0008367,Orphanet,ORPHA:93324,Subtype of disorder,Etiological subtype,Autosomal recessive Kenny-Caffey syndrome, +GARD:0008370,Orphanet,ORPHA:70472,Disorder,Disease,"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type","COX deficiency, French-Canadian type|Cytochrome C oxidase deficiency, French-Canadian type|Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type|Leigh syndrome, French-Canadian type|Leigh syndrome, Saguenay-Lac-Saint-Jean type|SLSJ-COX deficiency" +GARD:0008378,Orphanet,ORPHA:731,Disorder,Disease,Autosomal recessive polycystic kidney disease,AR-PKD +GARD:0008380,Orphanet,ORPHA:51608,Disorder,Disease,Generalized arterial calcification of infancy,Idiopathic infantile arterial calcification|Idiopathic obliterative arteriopathy|Infantile arteriosclerosis|Occlusive infantile arteriopathy +GARD:0008387,Orphanet,ORPHA:20,Disorder,Disease,3-hydroxy-3-methylglutaric aciduria,3-hydroxy-3-methylglutaryl-CoA lyase deficiency|HMG-CoA lyase deficiency|Hydroxymethylglutaric aciduria +GARD:0008391,Orphanet,ORPHA:664,Disorder,Disease,Ornithine transcarbamylase deficiency,OCT deficiency|OTC deficiency|Ornithine carbamoyltransferase deficiency +GARD:0008397,Orphanet,ORPHA:168598,Disorder,Disease,Brain demyelination due to methionine adenosyltransferase deficiency,MAT I/III deficiency|MAT deficiency|Methionine adenosyltransferase deficiency +GARD:0008406,Orphanet+OMIM,OMIM:305700,Subtype of disorder,Disease subtype,"Spermatogenic failure, x-linked, 1",Sertoli cell-only syndrome|del castillo syndrome|germinal cell aplasia +GARD:0008407,Orphanet,ORPHA:1305,Disorder,Malformation syndrome,Feingold syndrome,Brunner-Winter syndrome|Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|FGLDS|FS|MMT|MODED syndrome|Microcephaly-digital anomalies-normal intelligence syndrome|Microcephaly-intellectual disability-tracheoesophageal fistula syndrome|Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome|ODED syndrome|Oculo-digito-esophageal-duodenal syndrome +GARD:0008410,Orphanet,ORPHA:246,Disorder,Malformation syndrome,Postaxial acrofacial dysostosis,"Acrofacial dysostosis, Genee-Wiedemann type|Mandibulofacial dysostosis with postaxial limb anomalies|Miller syndrome|POADS|Postaxial acrodysostosis" +GARD:0008414,Orphanet,ORPHA:888,Disorder,Malformation syndrome,Van der Woude syndrome,Cleft lip/palate with mucous cysts of lower lip|Lip-pit syndrome|VWS +GARD:0008416,Orphanet,ORPHA:398166,Disorder,Malformation syndrome,Focal facial dermal dysplasia,FFDD +GARD:0008417,GARD,,Disorder,Clinical syndrome,Renal cell carcinoma 4,RCC4 +GARD:0008419,Orphanet,ORPHA:137902,Disorder,Morphological anomaly,Isolated optic nerve hypoplasia/aplasia, +GARD:0008421,Orphanet,ORPHA:884,Disorder,Malformation syndrome,Tetrasomy 12p,Isochromosome 12p mosaicism|Isochromosome 12p syndrome|Pallister-Killian syndrome +GARD:0008422,Orphanet,ORPHA:709,Disorder,Malformation syndrome,Peters plus syndrome,Krause-Kivlin syndrome|Krause-van Schooneveld-Kivlin syndrome|Peters anomaly with short limb dwarfism +GARD:0008423,Orphanet,ORPHA:1399,Disorder,Malformation syndrome,Richards-Rundle syndrome,Ketoaciduria-intellectual disability-ataxia-deafness syndrome|Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome +GARD:0008424,Orphanet,ORPHA:42062,Disorder,Disease,Iminoglycinuria, +GARD:0008426,Orphanet,ORPHA:95720,Disorder,Morphological anomaly,Thyroid hypoplasia, +GARD:0008427,Orphanet,ORPHA:34592,Disorder,Disease,Immunodeficiency by defective expression of MHC class I,Bare lymphocyte syndrome type 1|MHC class I deficiency +GARD:0008428,Orphanet,ORPHA:1512,Disorder,Malformation syndrome,Crane-Heise syndrome, +GARD:0008432,Orphanet,ORPHA:168572,Disorder,Malformation syndrome,Native American myopathy,Congenital myopathy-cleft palate-malignant hyperthermia syndrome +GARD:0008433,Orphanet,ORPHA:99741,Disorder,Malformation syndrome,King-Denborough syndrome,Koussef-Nichols syndrome +GARD:0008435,Orphanet,ORPHA:2856,Disorder,Malformation syndrome,Persistent Müllerian duct syndrome,PMDS|Persistent Müllerian derivatives +GARD:0008436,Orphanet,ORPHA:282,Group of disorders,Clinical group,Frontotemporal dementia,FTD +GARD:0008438,Orphanet,ORPHA:3387,Disorder,Disease,Isolated anterior cervical hypertrichosis,Hairy throat syndrome|Tsukahara-Kajii syndrome +GARD:0008449,Orphanet,ORPHA:85202,Disorder,Malformation syndrome,Keutel syndrome,Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome +GARD:0008457,Orphanet,ORPHA:32960,Disorder,Disease,Tumor necrosis factor receptor 1 associated periodic syndrome,Familial Hibernian fever|TNF receptor 1-associated periodic syndrome|TRAPS syndrome +GARD:0008466,Orphanet,ORPHA:3453,Disorder,Disease,Autoimmune polyendocrinopathy type 1,APECED syndrome|APS type 1|APS1|Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome|Autoimmune polyendocrine syndrome type 1|Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|Autoimmune polyglandular syndrome type 1|HAM syndrome|Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome|MEDAC syndrome|Multiple endocrine deficiency-Addison disease-candidiasis syndrome +GARD:0008468,Orphanet,ORPHA:252206,Disorder,Disease,Melanoma and neural system tumor syndrome,Melanoma-astrocytoma syndrome +GARD:0008471,Orphanet,ORPHA:54,Disorder,Disease,X-linked recessive ocular albinism,"OA1|Ocular albinism type 1|Ocular albinism, Nettleship-Falls type|XLOA" +GARD:0008472,Orphanet,ORPHA:575,Disorder,Disease,Muckle-Wells syndrome,Neutrophilic urticaria +GARD:0008476,Orphanet,ORPHA:99718,Disorder,Disease,Leber plus disease,LHON plus disease +GARD:0008479,Orphanet,ORPHA:538756,Disorder,Disease,Familial multiple discoid fibromas,Familial multiple trichodiscomas +GARD:0008480,Orphanet,ORPHA:90349,Disorder,Disease,Autosomal recessive cutis laxa type 1,"ARCL1|Autosomal recessive cutis laxa with severe systemic involvement|Autosomal recessive cutis laxa, pulmonary emphysema type" +GARD:0008485,Orphanet,ORPHA:85203,Disorder,Malformation syndrome,Acropectoral syndrome,ACRP syndrome|Syndactyly-preaxial polydactyly-sternal deformity syndrome +GARD:0008486,Orphanet,ORPHA:2953,Disorder,Disease,Musculocontractural Ehlers-Danlos syndrome,"Adducted thumb-clubfoot syndrome|Distal arthrogryposis with peculiar facies and hydronephrosis|Dündar syndrome|Ehlers-Danlos syndrome, Kosho type|Musculocontractural EDS|mcEDS" +GARD:0008487,Orphanet,ORPHA:199267,Disorder,Disease,Infantile digital fibromatosis,Inclusion body fibromatosis|Recurring digital fibrous tumor of childhood|Reye tumor +GARD:0008488,Orphanet,ORPHA:319487,Disorder,Disease,Familial papillary or follicular thyroid carcinoma,FNMTC|Familial pure nonmedullary thyroid carcinoma +GARD:0008491,Orphanet+OMIM,OMIM:606190,Subtype of disorder,Disease subtype,"Meningioma, radiation-induced", +GARD:0008495,Orphanet,ORPHA:139507,Disorder,Disease,African iron overload,Bantu siderosis +GARD:0008497,Orphanet+OMIM,OMIM:605472,Subtype of disorder,Clinical subtype,"Usher syndrome, type iic", +GARD:0008501,Orphanet,ORPHA:171723,Disorder,Disease,White sponge nevus,Hereditary mucosal leukokeratosis|White sponge nevus of Cannon +GARD:0008505,Orphanet,ORPHA:75497,Disorder,Disease,X-linked Ehlers-Danlos syndrome,EDS V|Ehlers-Danlos syndrome type 5|X-linked EDS +GARD:0008507,Orphanet,ORPHA:230839,Disorder,Disease,Classical-like Ehlers-Danlos syndrome type 1,Classical-like EDS type 1|Ehlers-Danlos syndrome due to tenascin-X deficiency|clEDS type 1 +GARD:0008509,Orphanet,ORPHA:1133,Disorder,Malformation syndrome,AREDYLD syndrome,Acrorenal defect-ectodermal dysplasia-diabetes syndrome +GARD:0008517,Orphanet,ORPHA:384,Disorder,Disease,Huriez syndrome,Palmoplantar hyperkeratosis-sclerodactyly syndrome|Palmoplantar keratoderma-sclerodactyly syndrome|Scleroatrophic syndrome|Sclerotylosis +GARD:0008520,Orphanet,ORPHA:1568,Disorder,Malformation syndrome,X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome, +GARD:0008521,Orphanet,ORPHA:1145,Disorder,Disease,Infantile-onset X-linked spinal muscular atrophy,SMAX2|Spinal muscular atrophy with arthrogryposis|X-linked distal arthrogryposis multiplex congenita|X-linked spinal muscular atrophy type 2 +GARD:0008526,Orphanet,ORPHA:171700,Disorder,Disease,Diffuse panbronchiolitis, +GARD:0008527,Orphanet+OMIM,OMIM:234810,Subtype of disorder,Disease subtype,"Pulmonary venoocclusive disease 2, autosomal recessive","Hemangiomatosis, familial pulmonary capillary" +GARD:0008528,Orphanet,ORPHA:244242,Disorder,Disease,HELLP syndrome,"Hemolysis, elevated liver enzymes, low platelets in pregnancy|Hemolysis-elevated liver enzymes-low platelets syndrome" +GARD:0008529,Orphanet,ORPHA:295044,Disorder,Morphological anomaly,Macrodactyly of fingers,Macrodactyly of hand +GARD:0008530,Orphanet,ORPHA:399805,Disorder,Disease,Male infertility with azoospermia or oligozoospermia due to single gene mutation, +GARD:0008531,Orphanet+OMIM,OMIM:248340,Subtype of disorder,Malformation syndrome subtype,3mc syndrome 3,"Facial clefting syndrome, gypsy type|malpuech facial clefting syndrome, formerly" +GARD:0008532,Orphanet,ORPHA:220460,Disorder,Disease,Attenuated familial adenomatous polyposis,AFAP|Attenuated FAP|Attenuated familial polyposis coli +GARD:0008533,Orphanet,ORPHA:443909,Group of disorders,Clinical group,Hereditary nonpolyposis colon cancer,Familial nonpolyposis colon cancer|Familial nonpolyposis colorectal cancer|HNPCC|Hereditary nonpolyposis colorectal cancer +GARD:0008535,Orphanet,ORPHA:661,Disorder,Disease,Congenital central hypoventilation syndrome,CCHS|Congenital central alveolar hypoventilation syndrome|Ondine curse|Ondine syndrome +GARD:0008538,Orphanet,ORPHA:98085,Group of disorders,Category,"46,XY disorder of sex development","46,XY DSD" +GARD:0008539,Orphanet,ORPHA:210128,Disorder,Disease,Urocanic aciduria,Encephalopathy due to urocanase deficiency +GARD:0008541,Orphanet,ORPHA:95432,Group of disorders,Clinical group,Primary progressive aphasia,Mesulam syndrome|PPA +GARD:0008542,Orphanet,ORPHA:93442,Group of disorders,Clinical group,Chondrodysplasia punctata,CDP +GARD:0008547,Orphanet,ORPHA:358,Disorder,Disease,Gitelman syndrome, +GARD:0008548,Orphanet,ORPHA:98856,Disorder,Disease,Charcot-Marie-Tooth disease type 2B1,AR-CMT2B1|Autosomal recessive Charcot-Marie-Tooth disease type 2B1|Autosomal recessive axonal CMT4C1 +GARD:0008549,Orphanet,ORPHA:570,Disorder,Disease,Moebius syndrome,Möbius syndrome +GARD:0008550,Orphanet,ORPHA:86920,Disorder,Disease,Dermatopathia pigmentosa reticularis, +GARD:0008553,Orphanet,ORPHA:31709,Disorder,Disease,Infantile convulsions and choreoathetosis,ICCA syndrome|Paroxysmal kinesigenic dyskinesia and infantile convulsions +GARD:0008555,Orphanet,ORPHA:93571,Subtype of disorder,Histopathological subtype,Dense deposit disease,Membranoproliferative glomerulonephritis type 2 +GARD:0008557,Orphanet+OMIM,OMIM:300062,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 14", +GARD:0008559,Orphanet+OMIM,OMIM:194071,Subtype of disorder,Disease subtype,Wilms tumor 2, +GARD:0008562,Orphanet,ORPHA:808,Disorder,Malformation syndrome,Seckel syndrome, +GARD:0008563,Orphanet,ORPHA:238606,Disorder,Disease,Primary orthostatic tremor,POT +GARD:0008570,Orphanet,ORPHA:83601,Disorder,Disease,Steroid-responsive encephalopathy associated with autoimmune thyroiditis,Hashimoto encephalitis|SREAT +GARD:0008573,Orphanet,ORPHA:219,Disorder,Disease,Delta-sarcoglycan-related limb-girdle muscular dystrophy R6,Autosomal recessive limb-girdle muscular dystrophy type 2F|Delta-sarcoglycan-related LGMD R6|Delta-sarcoglycanopathy|LGMD due to delta-sarcoglycan deficiency|LGMD type 2F|LGMD2F|Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency|Limb-girdle muscular dystrophy type 2F +GARD:0008574,Orphanet,ORPHA:268,Disorder,Disease,Dysferlin-related limb-girdle muscular dystrophy R2,Autosomal recessive limb-girdle muscular dystrophy type 2B|Dysferlin-related LGMD R2|LGMD due to dysferlin deficiency|LGMD type 2B|LGMD2B|Limb-girdle muscular dystrophy due to dysferlin deficiency|Limb-girdle muscular dystrophy type 2B +GARD:0008577,Orphanet,ORPHA:280898,Group of disorders,Category,Panuveitis,Total uveitis +GARD:0008578,Orphanet+OMIM,OMIM:602404,Subtype of disorder,Disease subtype,"Parkinson disease 3, autosomal dominant", +GARD:0008580,Orphanet,ORPHA:1914,Disorder,Malformation syndrome,Vitamin K antagonist embryofetopathy,Vitamin K antagonist embryopathy|Warfarin embryofetopathy|Warfarin embryopathy|di Sala syndrome +GARD:0008583,Orphanet,ORPHA:306527,Disorder,Morphological anomaly,Isolated hereditary congenital facial paralysis, +GARD:0008585,Orphanet,ORPHA:1517,Disorder,Malformation syndrome,Cantú syndrome,Congenital hypertrichosis-acromegaloid facial features spectrum|Congenital hypertrichosis-coarse facial features spectrum|Hypertrichotic osteochondrodysplasia +GARD:0008586,Orphanet,ORPHA:2872,Disorder,Malformation syndrome,"Cardiocranial syndrome, Pfeiffer type",Craniosynostosis-congenital heart disease-intellectual disability syndrome|Pfeiffer-Singer-Zschiesche syndrome +GARD:0008588,Orphanet+OMIM,OMIM:144010,Subtype of disorder,Disease subtype,"Hypercholesterolemia, familial, 2","hypercholesterolemia, familial, due to ligand-defective apolipoprotein b|Hypercholesterolemia, autosomal dominant, type b|apolipoprotein b-100, familial ligand-defective|apolipoprotein b-100, familial defective" +GARD:0008591,GARD,,Disorder,Disease,X-linked visceral heterotaxy 1,"HTX1|Laterality, X-linked|Situs inversus, complex cardiac defects, and splenic defects, X-linked|Heterotaxy, visceral, 1, X-linked|Heterotaxy, visceral, X-linked" +GARD:0008592,Orphanet,ORPHA:98920,Disorder,Disease,Spinal muscular atrophy with respiratory distress type 1,Autosomal recessive distal spinal muscular atrophy type 1|Autosomal recessive spinal muscular atrophy with respiratory distress|Diaphragmatic spinal muscular atrophy|Distal hereditary motor neuropathy type 6|Distal-HMN type 6|SIANRF|SMARD1|Severe infantile axonal neuropathy with respiratory failure type 1|dHMN6|dSMA1 +GARD:0008593,Orphanet,ORPHA:77296,Disorder,Malformation syndrome,Morgagni-Stewart-Morel syndrome,Hyperostosis frontalis interna +GARD:0008595,Orphanet,ORPHA:96,Disorder,Disease,Ataxia with vitamin E deficiency,AVED|Ataxia with isolated vitamin E deficiency|Familial isolated vitamin E deficiency|Friedreich-like ataxia|Isolated vitamin E deficiency +GARD:0008598,Orphanet,ORPHA:44890,Disorder,Disease,Gastrointestinal stromal tumor,GIST|Gastrointestinal stromal sarcoma +GARD:0008600,Orphanet,ORPHA:140969,Disorder,Disease,Saldino-Mainzer syndrome,Conorenal syndrome|Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome +GARD:0008605,Orphanet,ORPHA:91385,Group of disorders,Clinical group,Acquired angioedema,AAE|Acquired C1 inhibitor deficiency|Acquired angioneurotic edema|Acquired bradykinine-induced angioedema|Acquired non histamine-induced angioedema +GARD:0008606,Orphanet,ORPHA:99742,Disorder,Malformation syndrome,Amish lethal microcephaly, +GARD:0008609,Orphanet,ORPHA:2032,Disorder,Disease,Idiopathic pulmonary fibrosis,IPF +GARD:0008610,Orphanet,ORPHA:199282,Disorder,Disease,Harlequin syndrome,Progressive isolated segmental anhidrosis +GARD:0008614,Orphanet,ORPHA:232,Disorder,Disease,Sickle cell anemia, +GARD:0008616,Orphanet,ORPHA:2467,Group of disorders,Clinical group,Systemic mastocytosis, +GARD:0008618,Orphanet,ORPHA:824,Disorder,Disease,Primary myelofibrosis,Agnogenic myeloid metaplasia|Idiopathic myelofibrosis|Myelofibrosis with myeloid metaplasia|Osteomyelofibrosis +GARD:0008621,Orphanet,ORPHA:39044,Disorder,Disease,Uveal melanoma,Choroidal melanoma|Iris melanoma +GARD:0008622,Orphanet,ORPHA:169105,Disorder,Disease,Good syndrome,Thymoma-immunodeficiency syndrome +GARD:0008623,Orphanet,ORPHA:2521,Disorder,Malformation syndrome,Microcephaly-cleft palate-abnormal retinal pigmentation syndrome, +GARD:0008625,Orphanet,ORPHA:33355,Disorder,Disease,Reticular dysgenesis,AK2 deficiency|Congenital aleukocytosis|De Vaal disease|Generalized hematopoietic hypoplasia|SCID with leukopenia|Severe combined immunodeficiency with leukopenia +GARD:0008631,Orphanet,ORPHA:1598,Disorder,Disease,Monosomy 18p,18p- syndrome|De Grouchy syndrome +GARD:0008638,Orphanet,ORPHA:86851,Group of disorders,Category,Acute leukemia of ambiguous lineage,Acute leukemia of indeterminate lineage|Hybrid acute leukemia|Mixed lineage acute leukemia +GARD:0008639,Orphanet,ORPHA:83597,Disorder,Disease,Acute disseminated encephalomyelitis,ADEM|Acute disseminated encephalitis +GARD:0008640,Orphanet,ORPHA:284454,Disorder,Disease,Acute zonal occult outer retinopathy,AZOOR +GARD:0008644,Orphanet,ORPHA:210122,Disorder,Disease,Congenital alveolar capillary dysplasia,ACDMPV|Alveolar capillary dysplasia with misalignment of pulmonary veins|Alveolar capillary dysplasia with misalignment of pulmonary vessels +GARD:0008653,Orphanet,ORPHA:90000,Disorder,Disease,Erythema elevatum diutinum, +GARD:0008659,Orphanet,ORPHA:93323,Disorder,Morphological anomaly,Fibular hemimelia,Congenital longitudinal deficiency of the fibula|Fibular longitudinal meromelia +GARD:0008660,Orphanet,ORPHA:221117,Disorder,Disease,Gerstmann syndrome, +GARD:0008661,Orphanet,ORPHA:2368,Disorder,Morphological anomaly,Gastroschisis,Laparoschisis +GARD:0008663,Orphanet,ORPHA:114,Disorder,Malformation syndrome,Auriculoosteodysplasia, +GARD:0008672,Orphanet,ORPHA:261494,Disorder,Malformation syndrome,Kleefstra syndrome, +GARD:0008683,Orphanet,ORPHA:79235,Subtype of disorder,Clinical subtype,Crigler-Najjar syndrome type 2,Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2|Bilirubin-UGT deficiency type 2 +GARD:0008686,Orphanet,ORPHA:3261,Disorder,Disease,Autoimmune lymphoproliferative syndrome,ALPS|Canale-Smith syndrome +GARD:0008689,Orphanet,ORPHA:94075,Group of disorders,Category,Severe immune-mediated enteropathy,Autoimmune enteropathy|Immune-mediated protracted diarrhea of infancy +GARD:0008692,Orphanet,ORPHA:1489,Disorder,Disease,Whooping cough,Pertussis +GARD:0008694,Orphanet,ORPHA:216796,Subtype of disorder,Clinical subtype,Osteogenesis imperfecta type 1,Adair-Dighton syndrome|Mild osteogenesis imperfecta|Non-deforming osteogenesis imperfecta|OI type 1|Van der Hoeve syndrome +GARD:0008695,Orphanet,ORPHA:216812,Subtype of disorder,Clinical subtype,Osteogenesis imperfecta type 3,OI type 3|Progressive deforming osteogenesis imperfecta|Severe osteogenesis imperfecta +GARD:0008696,Orphanet,ORPHA:216820,Subtype of disorder,Clinical subtype,Osteogenesis imperfecta type 4,OI type 4 +GARD:0008698,Orphanet,ORPHA:53697,Disorder,Malformation syndrome,Gnathodiaphyseal dysplasia,GDD +GARD:0008699,Orphanet,ORPHA:216828,Subtype of disorder,Clinical subtype,Osteogenesis imperfecta type 5,OI type 5 +GARD:0008700,Orphanet+OMIM,OMIM:613982,Subtype of disorder,Clinical subtype,"Osteogenesis imperfecta, type vi", +GARD:0008701,Orphanet+OMIM,OMIM:610682,Subtype of disorder,Clinical subtype,"Osteogenesis imperfecta, type vii","Oi, type vii|osteogenesis imperfecta, type iib, formerly" +GARD:0008702,Orphanet,ORPHA:2134,Disorder,Disease,Atypical hemolytic uremic syndrome,Atypical HUS|aHUS +GARD:0008703,Orphanet,ORPHA:140989,Disorder,Disease,Primary angiitis of the central nervous system,Isolated angiitis of the central nervous system|PACNS|PCNSV|Primary central nervous system vasculitis|Primary vasculitis of the central nervous system +GARD:0008707,Orphanet,ORPHA:93322,Disorder,Morphological anomaly,Tibial hemimelia,Congenital absence of tibia|Congenital aplasia and dysplasia of the tibia with intact fibula|Congenital longitudinal deficiency of the tibia|Tibial longitudinal meromelia +GARD:0008709,Orphanet,ORPHA:86789,Disorder,Morphological anomaly,Patella aplasia/hypoplasia,PTLAH +GARD:0008711,Orphanet,ORPHA:268129,Disorder,Disease,Spheroid body myopathy, +GARD:0008713,Orphanet,ORPHA:93296,Subtype of disorder,Clinical subtype,Achondrogenesis type 2,"Achondrogenesis, Langer-Saldino type" +GARD:0008717,Orphanet,ORPHA:166272,Disorder,Malformation syndrome,Odontochondrodysplasia,Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome|Goldblatt chondrodysplasia|Goldblatt syndrome|ODCD +GARD:0008719,Orphanet,ORPHA:168552,Disorder,Disease,Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome, +GARD:0008720,Orphanet,ORPHA:168549,Disorder,Disease,Axial spondylometaphyseal dysplasia, +GARD:0008721,Orphanet,ORPHA:98809,Disorder,Disease,Paroxysmal kinesigenic dyskinesia,Familial PKD|Familial paroxysmal kinesigenic dyskinesia|Paroxysmal kinesigenic choreathetosis +GARD:0008722,Orphanet,ORPHA:98810,Disorder,Disease,Paroxysmal non-kinesigenic dyskinesia,Paroxystic non-kinesigenic choreoathetosis +GARD:0008723,Orphanet,ORPHA:86841,Disorder,Disease,Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,5q- syndrome +GARD:0008732,Orphanet,ORPHA:98879,Disorder,Disease,Hemophilia B,Christmas disease|Congenital F9 deficiency|Congenital factor IX deficiency +GARD:0008735,Orphanet,ORPHA:247667,Subtype of disorder,Clinical subtype,Childhood-onset hypophosphatasia,Childhood-onset Rathbun disease|Childhood-onset phosphoethanolaminuria +GARD:0008737,Orphanet,ORPHA:33208,Disorder,Disease,Idiopathic hypersomnia,Idiopathic excessive sleepiness +GARD:0008743,Orphanet+OMIM,OMIM:603194,Subtype of disorder,Malformation syndrome subtype,"Meckel syndrome, type 2","Meckel-gruber syndrome, type 2" +GARD:0008744,Orphanet+OMIM,OMIM:607361,Subtype of disorder,Malformation syndrome subtype,"Meckel syndrome, type 3","Meckel-gruber syndrome, type 3" +GARD:0008754,Orphanet,ORPHA:1426,Disorder,Disease,Greenberg dysplasia,"HEM dysplasia|Hydrops-ectopic calcification-motheaten syndrome|Skeletal dysplasia, Greenberg type" +GARD:0008755,Orphanet,ORPHA:1135,Disorder,Malformation syndrome,Arrhinia-choanal atresia-microphthalmia syndrome, +GARD:0008756,Orphanet,ORPHA:1187,Disorder,Disease,Lethal ataxia with deafness and optic atrophy,Arts syndrome|Lethal ataxia with hearing loss and optic atrophy +GARD:0008757,Orphanet,ORPHA:64742,Disorder,Disease,Pleuropulmonary blastoma, +GARD:0008759,Orphanet,ORPHA:99922,Disorder,Disease,Ocular cicatricial pemphigoid, +GARD:0009118,Orphanet,ORPHA:3337,Disorder,Disease,Primary Fanconi renotubular syndrome,DeToni-Debré-Fanconi syndrome|Primary Fanconi renal syndrome +GARD:0009119,Orphanet,ORPHA:984,Disorder,Morphological anomaly,Pulmonary agenesis, +GARD:0009124,Orphanet,ORPHA:861,Disorder,Malformation syndrome,Treacher-Collins syndrome,Franceschetti-Klein syndrome|Mandibulofacial dysostosis without limb anomalies +GARD:0009125,Orphanet+OMIM,OMIM:248390,Subtype of disorder,Malformation syndrome subtype,Treacher collins syndrome 3,"Mandibulofacial dysostosis, treacher collins type, autosomal recessive" +GARD:0009126,Orphanet,ORPHA:990,Disorder,Malformation syndrome,Agnathia-holoprosencephaly-situs inversus syndrome, +GARD:0009128,Orphanet,ORPHA:98482,Group of disorders,Category,Idiopathic inflammatory myopathy,IMM|Idiopathic inflammatory myositis +GARD:0009138,Orphanet,ORPHA:97242,Group of disorders,Category,Congenital muscular dystrophy,CMD|MDC +GARD:0009142,Orphanet,ORPHA:2070,Disorder,Disease,Eosinophilic gastroenteritis,EGE|Eosinophilic enteritis|Eosinophilic gastroenterocolitis +GARD:0009145,Orphanet,ORPHA:171871,Subtype of disorder,Clinical subtype,Renal pseudohypoaldosteronism type 1,Autosomal dominant PHA1|Autosomal dominant pseudohypoaldosteronism type 1|Renal PHA1 +GARD:0009146,Orphanet,ORPHA:1340,Disorder,Malformation syndrome,Cardiofaciocutaneous syndrome,CFC syndrome +GARD:0009149,Orphanet+OMIM,OMIM:180100,Subtype of disorder,Disease subtype,Retinitis pigmentosa 1, +GARD:0009151,Orphanet+OMIM,OMIM:210210,Subtype of disorder,Disease subtype,3-methylcrotonyl-coa carboxylase 2 deficiency,"3-methylcrotonylglycinuria ii|Mcc2 deficiency|methylcrotonylglycinuria, type ii" +GARD:0009152,Orphanet,ORPHA:90791,Disorder,Disease,Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency +GARD:0009156,Orphanet,ORPHA:85274,Disorder,Malformation syndrome,Syndromic X-linked intellectual disability 7,"MRXS7|X-linked intellectual disability, Ahmad type" +GARD:0009157,Orphanet,ORPHA:85273,Disorder,Malformation syndrome,"X-linked intellectual disability, Abidi type", +GARD:0009158,Orphanet,ORPHA:53347,Disorder,Disease,Brody myopathy, +GARD:0009159,Orphanet+OMIM,OMIM:300018,Subtype of disorder,Malformation syndrome subtype,"46,xy sex reversal 2","dosage-sensitive sex reversal|46,xy sex reversal, dax1-related" +GARD:0009161,Orphanet,ORPHA:79280,Subtype of disorder,Clinical subtype,Alpha-N-acetylgalactosaminidase deficiency type 2,Adult-onset Alpha-N-acetylgalactosaminidase deficiency|Kanzaki disease|NAGA deficiency type 2|Schindler disease type 2 +GARD:0009163,Orphanet,ORPHA:353298,Disorder,Disease,Roifman syndrome,Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome +GARD:0009164,Orphanet,ORPHA:97238,Disorder,Disease,Rippling muscle disease, +GARD:0009165,Orphanet+OMIM,OMIM:600332,Subtype of disorder,Disease subtype,Rippling muscle disease 1, +GARD:0009166,Orphanet+OMIM,OMIM:606282,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 24", +GARD:0009167,Orphanet+OMIM,OMIM:606346,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 22", +GARD:0009168,Orphanet,ORPHA:85195,Disorder,Disease,Familial expansile osteolysis,Hereditary expansile polyostotic osteolytic dysplasia|McCabe disease +GARD:0009169,Orphanet,ORPHA:97346,Subtype of disorder,Clinical subtype,ADan amyloidosis,"Familial dementia, Danish type" +GARD:0009170,Orphanet,ORPHA:55654,Disorder,Disease,Hypotrichosis simplex,Hereditary hypotrichosis simplex +GARD:0009172,Orphanet+OMIM,OMIM:148700,Subtype of disorder,Disease subtype,"Palmoplantar keratoderma i, striate, focal, or diffuse","Keratosis palmoplantaris striata i|striate palmoplantar keratoderma i|keratoderma, palmoplantar, striate form i" +GARD:0009173,Orphanet+OMIM,OMIM:607654,Subtype of disorder,Disease subtype,Keratosis palmoplantaris striata iii,"Striate palmoplantar keratoderma iii|keratoderma, palmoplantar, striate form iii" +GARD:0009174,Orphanet,ORPHA:306674,Disorder,Disease,Kufor-Rakeb syndrome,PARK9 +GARD:0009175,Orphanet,ORPHA:171695,Disorder,Disease,Parkinsonian-pyramidal syndrome,Pallidopyramidal syndrome +GARD:0009176,Orphanet,ORPHA:69126,Disorder,Disease,Pyogenic arthritis-pyoderma gangrenosum-acne syndrome,FRA|Familial recurrent arthritis|PAPA syndrome +GARD:0009177,Orphanet,ORPHA:137776,Disorder,Malformation syndrome,Lethal congenital contracture syndrome type 2,"LCCS2|Multiple contracture syndrome, Israeli-Bedouin type" +GARD:0009178,Orphanet,ORPHA:85282,Disorder,Malformation syndrome,MEHMO syndrome,X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome +GARD:0009179,Orphanet,ORPHA:75327,Disorder,Disease,North Carolina macular dystrophy,"CAPE dystrophy|CAPED|Central areolar pigment epithelial dystrophy|Central retinal pigment epithelial dystrophy|MCDR1|NCMD|North Carolina macular dystrophy, retinal 1|Progressive foveal dystrophy" +GARD:0009180,Orphanet,ORPHA:97560,Disorder,Disease,Primary membranous glomerulonephritis,Idiopathic membranous glomerulonephritis|Primary membranous nephropathy +GARD:0009181,Orphanet,ORPHA:86,Disorder,Disease,Familial abdominal aortic aneurysm, +GARD:0009182,Orphanet,ORPHA:93293,Disorder,Malformation syndrome,Okihiro syndrome,Duane-radial ray syndrome +GARD:0009184,Orphanet,ORPHA:1159,Disorder,Disease,Progressive pseudorheumatoid arthropathy of childhood,Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome +GARD:0009185,Orphanet,ORPHA:99898,Disorder,Disease,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,MSMD due to complete IFNgammaR1 deficiency|MSMD due to complete interferon gamma receptor 1 deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency +GARD:0009189,Orphanet,ORPHA:101084,Disorder,Disease,Charcot-Marie-Tooth disease type 1D,CMT1D +GARD:0009190,Orphanet,ORPHA:90658,Disorder,Disease,Charcot-Marie-Tooth disease type 1E,CMT1E|Charcot-Marie-Tooth disease-deafness syndrome|Charcot-Marie-Tooth disease-hearing loss syndrome +GARD:0009191,Orphanet,ORPHA:101085,Disorder,Disease,Charcot-Marie-Tooth disease type 1F,CMT1F +GARD:0009192,Orphanet,ORPHA:99936,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2B,CMT2B +GARD:0009193,Orphanet,ORPHA:99939,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2E,CMT2E +GARD:0009194,Orphanet,ORPHA:99940,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2F,CMT2F +GARD:0009195,Orphanet,ORPHA:99941,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2G,CMT2G +GARD:0009196,Orphanet,ORPHA:101102,Disorder,Disease,Charcot-Marie-Tooth disease type 2H,AR-CMT2C|Autosomal recessive axonal CMT4C2|Axonal Charcot-Marie-Tooth disease with pyramidal involvement|CMT2H +GARD:0009197,Orphanet,ORPHA:99942,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2I,CMT2I +GARD:0009198,Orphanet,ORPHA:99943,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2J,CMT2J +GARD:0009199,Orphanet,ORPHA:99944,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2K,CMT2K +GARD:0009200,Orphanet,ORPHA:99956,Disorder,Disease,Charcot-Marie-Tooth disease type 4B2,CMT4B2 +GARD:0009201,Orphanet,ORPHA:99949,Disorder,Disease,Charcot-Marie-Tooth disease type 4C,CMT4C +GARD:0009203,Orphanet,ORPHA:99951,Disorder,Disease,Charcot-Marie-Tooth disease type 4E,Autosomal recessive congenital hypomyelinating neuropathy|CMT4E +GARD:0009204,Orphanet,ORPHA:64748,Disorder,Disease,Dejerine-Sottas syndrome,Charcot-Marie-Tooth disease type 3|HMSN 3|HMSN III|Hereditary motor and sensory neuropathy type 3|Hereditary motor and sensory neuropathy type III +GARD:0009206,Orphanet,ORPHA:352670,Disorder,Disease,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,CMTDIF +GARD:0009207,Orphanet,ORPHA:100046,Disorder,Disease,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,CMTDID +GARD:0009208,Orphanet,ORPHA:64751,Disorder,Disease,Hereditary motor and sensory neuropathy type 5,Charcot-Marie-Tooth disease-pyramidal features syndrome|HMSN 5|HMSN V|Hereditary motor and sensory neuropathy type V +GARD:0009210,Orphanet,ORPHA:49827,Disorder,Disease,Thiamine-responsive megaloblastic anemia syndrome,Rogers syndrome|TRMA|Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss +GARD:0009212,Orphanet,ORPHA:2879,Disorder,Malformation syndrome,"Phocomelia, Schinzel type",Al Awadi-Raas-Rothschild syndrome|Aplasia/hypoplasia of limbs and pelvis|Congenital absence of ulna and fibula|Severe limb deficit +GARD:0009217,Orphanet,ORPHA:86914,Disorder,Malformation syndrome,Lymphedema-cerebral arteriovenous anomaly syndrome, +GARD:0009225,Orphanet,ORPHA:1412,Disorder,Malformation syndrome,Tarsal-carpal coalition syndrome, +GARD:0009228,Orphanet,ORPHA:411709,Disorder,Morphological anomaly,Renal agenesis, +GARD:0009232,Orphanet,ORPHA:1136,Disorder,Morphological anomaly,Arnold-Chiari malformation type II,Arnold-Chiari malformation type 2|Chiari malformation type 2|Chiari malformation type II +GARD:0009233,Orphanet,ORPHA:268882,Disorder,Morphological anomaly,Arnold-Chiari malformation type I,Arnold-Chiari malformation type 1|Chiari malformation type 1|Chiari malformation type I +GARD:0009237,Orphanet,ORPHA:140896,Disorder,Disease,Severe acute respiratory syndrome,SARS|SARS-1 +GARD:0009239,Orphanet,ORPHA:90020,Disorder,Disease,Parkinson-dementia complex of Guam,G-PDC|Guam disease|Guam parkinsonism-dementia complex|Lytico-Bodig disease +GARD:0009242,Orphanet,ORPHA:164736,Disorder,Disease,Familial advanced sleep-phase syndrome,FASPS +GARD:0009247,Orphanet,ORPHA:48686,Disorder,Disease,Primary effusion lymphoma,Body cavity-based lymphoma|PEL +GARD:0009252,Orphanet,ORPHA:91500,Disorder,Disease,Tubulointerstitial nephritis and uveitis syndrome,Acute tubulointerstitial nephritis and uveitis syndrome|Dobrin syndrome|TINU syndrome +GARD:0009255,Orphanet,ORPHA:1934,Disorder,Clinical syndrome,Early infantile epileptic encephalopathy,EIEE|Early infantile epileptic encephalopathy with suppression-bursts|Ohtahara syndrome +GARD:0009257,Orphanet,ORPHA:57145,Disorder,Disease,SUNCT syndrome,Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing +GARD:0009258,Orphanet,ORPHA:65250,Disorder,Disease,Perineural cyst,Tarlov cyst +GARD:0009265,Orphanet,ORPHA:71277,Disorder,Disease,Classic glucose transporter type 1 deficiency syndrome,Classic GLUT1 deficiency syndrome|Classic GLUT1-DS|De Vivo disease|Encephalopathy due to GLUT1 deficiency +GARD:0009266,Orphanet,ORPHA:79140,Disorder,Disease,Cutaneous neuroendocrine carcinoma,MCC|Merkel cell carcinoma +GARD:0009268,Orphanet+OMIM,OMIM:137950,Subtype of disorder,Disease subtype,Glomerulopathy with fibronectin deposits 1, +GARD:0009275,Orphanet,ORPHA:98960,Disorder,Disease,Thiel-Behnke corneal dystrophy,Anterior limiting membrane dystrophy type 2|Anterior limiting membrane dystrophy type II|Corneal dystrophy of Bowman layer type 2|Corneal dystrophy of Bowman layer type II|Curly fiber corneal dystrophy|Honeycomb corneal dystrophy|TBCD|Waardenburg-Jonker corneal dystrophy +GARD:0009276,Orphanet,ORPHA:98961,Disorder,Disease,Reis-Bücklers corneal dystrophy,Anterior limiting membrane dystrophy type 1|Anterior limiting membrane dystrophy type I|Atypical granular corneal dystrophy|Corneal dystrophy of Bowman layer type 1|Corneal dystrophy of Bowman layer type I|Geographic corneal dystrophy|Granular corneal dystrophy type 3|Granular corneal dystrophy type III|RBCD|Superficial granular corneal dystrophy +GARD:0009277,Orphanet,ORPHA:98967,Disorder,Disease,Schnyder corneal dystrophy,Crystalline stromal dystrophy|Hereditary crystalline stromal dystrophy of Schnyder|SCCD|SCD|Schnyder crystalline corneal dystrophy|Schnyder crystalline dystrophy sine crystals +GARD:0009278,Orphanet,ORPHA:98963,Disorder,Disease,Granular corneal dystrophy type II,Avellino corneal dystrophy|GCD2|GCDII|Granular corneal dystrophy type 2|Granular-lattice corneal dystrophy +GARD:0009279,Orphanet,ORPHA:51208,Disorder,Disease,Formiminoglutamic aciduria,FTCD deficiency|Formiminotransferase cyclodeaminase deficiency|Glutamate formiminotransferase deficiency +GARD:0009280,Orphanet,ORPHA:1415,Disorder,Malformation syndrome,Cholestasis-pigmentary retinopathy-cleft palate syndrome,Hardikar syndrome +GARD:0009281,Orphanet,ORPHA:404560,Disorder,Disease,Familial atypical multiple mole melanoma syndrome,B-K mole syndrome|FAMM-PC syndrome|FAMMM syndrome|Familial atypical mole syndrome|Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome|Familial dysplastic nevus syndrome|Melanoma-pancreatic cancer syndrome +GARD:0009282,Orphanet,ORPHA:370131,Disorder,Disease,White platelet syndrome, +GARD:0009283,Orphanet,ORPHA:1168,Disorder,Disease,Ataxia-oculomotor apraxia type 1,AOA1 +GARD:0009285,Orphanet,ORPHA:67043,Disorder,Disease,Amoebic keratitis, +GARD:0009287,Orphanet,ORPHA:1190,Disorder,Malformation syndrome,Atelosteogenesis type I,AO1|AOI|Atelosteogenesis type 1|Giant cell chondrodysplasia|Spondylo-humero-femoral dysplasia +GARD:0009288,Orphanet,ORPHA:85285,Disorder,Malformation syndrome,"X-linked intellectual disability, Schimke type", +GARD:0009292,Orphanet,ORPHA:77299,Disorder,Malformation syndrome,Microphthalmia-brain atrophy syndrome,MCOPS10|MOBA syndrome|Syndromic microphthalmia type 10 +GARD:0009294,Orphanet,ORPHA:65283,Disorder,Malformation syndrome,Timothy syndrome,LQT8|Long QT syndrome type 8|Long QT syndrome-syndactyly syndrome +GARD:0009295,Orphanet,ORPHA:1860,Subtype of disorder,Clinical subtype,Thanatophoric dysplasia type 1,TD1|Thanatophoric dwarfism type 1 +GARD:0009296,Orphanet,ORPHA:101004,Disorder,Disease,Autosomal recessive spastic paraplegia type 24,SPG24 +GARD:0009297,Orphanet,ORPHA:51636,Disorder,Disease,WHIM syndrome,WILM|Warts-hypogammaglobulinemia-infections-myelokathexis syndrome|Warts-infections-leukopenia-myelokatexis syndrome +GARD:0009298,Orphanet,ORPHA:3006,Disorder,Disease,Pyridoxine-dependent epilepsy,Antiquitin deficiency|Vitamin B6-dependent seizures +GARD:0009299,Orphanet,ORPHA:73423,Disorder,Disease,Acute ackee fruit intoxication,Acute intoxication by Blighia sapida|Jamaican vomiting sickness|Jamaican vomiting syndrome +GARD:0009304,Orphanet,ORPHA:70567,Disorder,Disease,Cholangiocarcinoma,Bile duct cancer|CCA +GARD:0009316,Orphanet,ORPHA:877,Group of disorders,Category,Neuroendocrine neoplasm, +GARD:0009318,Orphanet,ORPHA:46135,Disorder,Disease,Primary central nervous system lymphoma,PCNSL|Primary CNS lymphoma|Primary brain lymphoma +GARD:0009319,Orphanet,ORPHA:98274,Group of disorders,Clinical group,Myeloproliferative neoplasm,MPD|MPN|Myeloproliferative disorder +GARD:0009325,Orphanet,ORPHA:363579,Group of disorders,Category,Extragonadal germ cell tumor, +GARD:0009330,Orphanet,ORPHA:35807,Group of disorders,Category,Malignant germ cell tumor of ovary,MOGCT|Malignant ovarian germ cell tumor|Ovarian germ cell cancer +GARD:0009331,Orphanet,ORPHA:33402,Disorder,Disease,Pediatric hepatocellular carcinoma,Childhood-onset HCC|Childhood-onset hepatocellular carcinoma|Pediatric HCC +GARD:0009344,Orphanet,ORPHA:70573,Disorder,Disease,Small cell lung cancer,SCLC +GARD:0009348,Orphanet,ORPHA:180247,Disorder,Disease,Vaginal carcinoma,Vaginal malignant epithelial tumor +GARD:0009349,Orphanet,ORPHA:494418,Disorder,Disease,Vulvar carcinoma,Carcinoma of vulva +GARD:0009351,Orphanet,ORPHA:98275,Group of disorders,Clinical group,Myelodysplastic/myeloproliferative disease, +GARD:0009362,Orphanet,ORPHA:398934,Group of disorders,Category,Malignant epithelial tumor of ovary,Epithelial cancer of ovary|Ovarian epithelial cancer|Ovarian malignant epithelial tumor +GARD:0009363,Orphanet,ORPHA:206473,Disorder,Disease,Borderline epithelial tumor of ovary,Borderline ovarian epithelial tumor|Ovarian tumor of low malignant potential +GARD:0009364,Orphanet,ORPHA:180824,Group of disorders,Category,Rare tumor of pancreas,Rare pancreatic tumor +GARD:0009366,Orphanet,ORPHA:398043,Group of disorders,Category,Malignant tumor of penis,Cancer of penis|Malignant penile tumor|Penile cancer +GARD:0009369,Orphanet,ORPHA:251909,Disorder,Disease,Pineoblastoma, +GARD:0009371,Orphanet,ORPHA:300385,Disorder,Disease,Pituitary carcinoma, +GARD:0009373,Orphanet,ORPHA:454714,Disorder,Disease,Plasma cell leukemia,PCL +GARD:0009376,Orphanet,ORPHA:598216,Disorder,Disease,Upper tract urothelial carcinoma,Transitional cell carcinoma of the pelvis and ureter|Transitional cell carcinoma of the upper urinary tract|UTUC +GARD:0009400,Orphanet,ORPHA:66529,Disorder,Disease,Tako-Tsubo cardiomyopathy,Ampulla cardiomyopathy|Apical ballooning syndrome|Ballooning cardiomyopathy|Broken heart syndrome|Stress cardiomyopathy|Tako-Tsubo syndrome|Takotsubo cardiomyopathy|Takotsubo syndrome|Transient left ventricular apical ballooning syndrome +GARD:0009404,Orphanet,ORPHA:498228,Disorder,Disease,Phyllodes tumor of the prostate,Cystic epithelial-stromal tumors of the prostate|Cystosarcoma phyllodes of the prostate|Phyllodes type of atypical prostatic hyperplasia +GARD:0009412,Orphanet,ORPHA:139396,Subtype of disorder,Clinical subtype,X-linked cerebral adrenoleukodystrophy,X-CALD +GARD:0009418,Orphanet,ORPHA:3233,Disorder,Malformation syndrome,Cochleosaccular degeneration-cataract syndrome, +GARD:0009420,Orphanet,ORPHA:2670,Disorder,Malformation syndrome,Pierson syndrome,Microcoria-congenital nephrosis syndrome +GARD:0009428,Orphanet+OMIM,OMIM:607464,Subtype of disorder,Disease subtype,"Thyroid carcinoma, hurthle cell",Hurthle cell thyroid neoplasia +GARD:0009429,Orphanet,ORPHA:309796,Subtype of disorder,Etiological subtype,Rhizomelic chondrodysplasia punctata type 2, +GARD:0009430,Orphanet,ORPHA:93583,Subtype of disorder,Clinical subtype,Congenital thrombotic thrombocytopenic purpura,Congenital ADAMTS-13 deficiency|Congenital TTP|Familial TTP|Upshaw-Schulman syndrome +GARD:0009433,Orphanet,ORPHA:289899,Group of disorders,Category,Organic aciduria, +GARD:0009435,Orphanet+OMIM,OMIM:608233,Subtype of disorder,Clinical subtype,Hermansky-pudlak syndrome 2, +GARD:0009441,Orphanet,ORPHA:420561,Disorder,Disease,Temple-Baraitser syndrome,Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|TMBTS +GARD:0009442,Orphanet,ORPHA:366,Disorder,Disease,Glycogen storage disease due to glycogen debranching enzyme deficiency,"Amylo-1,6-glucosidase deficiency|Cori disease|Cori-Forbes disease|Forbes disease|GDE deficiency|GSD due to glycogen debranching enzyme deficiency|GSD type 3|GSDIII|Glycogen storage disease type 3|Glycogen storage disease type III|Glycogenosis due to glycogen debranching enzyme deficiency|Glycogenosis type 3|Glycogenosis type III|Limit dextrinosis" +GARD:0009443,Orphanet,ORPHA:85165,Disorder,Disease,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,SADDAN +GARD:0009444,Orphanet,ORPHA:99826,Disorder,Disease,Marburg hemorrhagic fever,Green monkey disease|MHF|Marburg virus disease +GARD:0009447,Orphanet,ORPHA:79263,Disorder,Disease,Infantile neuronal ceroid lipofuscinosis,Hagberg-Santavuori disease|INCL|Infantile NCL|Santavuori disease|Santavuori-Haltia disease +GARD:0009448,Orphanet,ORPHA:295016,Disorder,Morphological anomaly,Camptodactyly of fingers, +GARD:0009449,Orphanet,ORPHA:100067,Subtype of disorder,Clinical subtype,Waterhouse-Friderichsen syndrome, +GARD:0009450,Orphanet,ORPHA:180176,Disorder,Morphological anomaly,Familial juvenile hypertrophy of the breast,Familial juvenile gigantomastia|Virginal breast hypertrophy +GARD:0009452,Orphanet,ORPHA:91414,Disorder,Disease,Pilomatrixoma,Epithelioma calcificans of Malherbe|Pilomatricoma +GARD:0009453,Orphanet,ORPHA:37553,Disorder,Disease,Andersen-Tawil syndrome,Andersen syndrome|LQT7|Long QT syndrome type 7 +GARD:0009455,Orphanet,ORPHA:2318,Disorder,Malformation syndrome,Joubert syndrome with oculorenal defect,Arima syndrome|CORS|Cerebellooculorenal syndrome|Dekaban-Arima syndrome|JS type B|JS-OR|Joubert syndrome with Senior-Loken syndrome +GARD:0009456,Orphanet,ORPHA:75563,Disorder,Disease,X-linked sideroblastic anemia,XLSA +GARD:0009457,Orphanet,ORPHA:2924,Disorder,Malformation syndrome,Isolated polycystic liver disease,ADPCLD|Autosomal dominant polycystic liver disease|PCLD +GARD:0009458,Orphanet+OMIM,OMIM:609192,Subtype of disorder,Malformation syndrome subtype,Loeys-dietz syndrome 1,"Furlong syndrome|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome" +GARD:0009463,Orphanet,ORPHA:85174,Disorder,Malformation syndrome,Pseudodiastrophic dysplasia, +GARD:0009465,Orphanet+OMIM,OMIM:104300,Subtype of disorder,Disease subtype,"Alzheimer disease, familial, 1",Presenile and senile dementia +GARD:0009472,Orphanet,ORPHA:251630,Disorder,Disease,Anaplastic oligodendroglioma, +GARD:0009474,Orphanet,ORPHA:2485,Disorder,Malformation syndrome,Melorheostosis, +GARD:0009479,Orphanet,ORPHA:79311,Subtype of disorder,Clinical subtype,Vitamin B12-responsive methylmalonic acidemia type cblB,"Vitamin B12-responsive methylmalonic aciduria, type cblB" +GARD:0009481,Orphanet,ORPHA:88924,Disorder,Disease,Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,PKDTS|TSC2/PKD1 contiguous gene syndrome|Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome +GARD:0009484,Orphanet,ORPHA:247245,Disorder,Disease,Superficial siderosis,Hemosiderosis of the central nervous system|Superficial hemosiderosis of the CNS|Superficial hemosiderosis of the central nervous system|Superficial siderosis of the CNS|Superficial siderosis of the central nervous system +GARD:0009485,Orphanet+OMIM,OMIM:137750,Subtype of disorder,Disease subtype,"Glaucoma 1, open angle, a","Glaucoma, primary open angle, juvenile-onset, 1" +GARD:0009486,Orphanet,ORPHA:88620,Disorder,Disease,Isolated congenital anosmia, +GARD:0009487,Orphanet,ORPHA:2674,Disorder,Malformation syndrome,Cyprus facial-neuromusculoskeletal syndrome, +GARD:0009489,Orphanet,ORPHA:180188,Disorder,Morphological anomaly,Isolated congenital breast hypoplasia/aplasia,Isolated congenital amastia +GARD:0009491,Orphanet+OMIM,OMIM:608553,Subtype of disorder,Disease subtype,Leber congenital amaurosis 9, +GARD:0009492,Orphanet+OMIM,OMIM:609376,Subtype of disorder,Clinical subtype,Cataract 35, +GARD:0009493,Orphanet,ORPHA:602,Disorder,Disease,GNE myopathy,"DMRV|Distal myopathy with rimmed vacuoles|Distal myopathy, Nonaka type|HIBM2|Hereditary inclusion body myopathy type 2|IBM2|Inclusion body myopathy type 2|Nonaka myopathy|Quadriceps-sparing myopathy" +GARD:0009494,Orphanet,ORPHA:79091,Disorder,Disease,Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,HIBM3|Hereditary inclusion body myopathy type 3|IBM3|Inclusion body myopathy type 3 +GARD:0009495,Orphanet+OMIM,OMIM:204700,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, hypomaturation type, iia1","Amelogenesis imperfecta, pigmented hypomaturation type, 1" +GARD:0009496,Orphanet,ORPHA:94088,Disorder,Malformation syndrome,Hereditary renal hypouricemia, +GARD:0009499,Orphanet,ORPHA:48818,Disorder,Disease,Aceruloplasminemia,Hereditary ceruloplasmin deficiency +GARD:0009501,Orphanet,ORPHA:53372,Disorder,Disease,Hereditary geniospasm,Familial trembling of the chin|Hereditary chin myoclonus|Hereditary chin-trembling +GARD:0009504,Orphanet+OMIM,OMIM:607728,Subtype of disorder,Disease subtype,"Porokeratosis 4, disseminated superficial actinic type", +GARD:0009505,Orphanet+OMIM,OMIM:175900,Subtype of disorder,Disease subtype,"Porokeratosis 3, multiple types","Porokeratosis, disseminated superficial actinic, 1" +GARD:0009506,Orphanet,ORPHA:85199,Disorder,Malformation syndrome,Craniosynostosis-anal anomalies-porokeratosis syndrome,CAP syndrome|CDAGS syndrome +GARD:0009508,Orphanet,ORPHA:98989,Subtype of disorder,Clinical subtype,Cerulean cataract,Blue-dot cataract +GARD:0009509,Orphanet,ORPHA:3242,Disorder,Malformation syndrome,Renpenning syndrome,"X-linked intellectual disability due to PQBP1 mutations|X-linked intellectual disability, Renpenning type" +GARD:0009511,Orphanet,ORPHA:137675,Disorder,Disease,Histiocytoid cardiomyopathy,Foamy myocardial transformation of infancy|Infantile cardiomyopathy with histiocytoid change|Infantile xanthomatous cardiomyopathy|Oncocytic cardiomyopathy +GARD:0009514,Orphanet,ORPHA:180261,Disorder,Disease,Phyllodes tumor of the breast, +GARD:0009517,Orphanet,ORPHA:97364,Subtype of disorder,Clinical subtype,Bilateral multicystic dysplastic kidney,Bilateral MCDK|Bilateral multicystic renal dysplasia +GARD:0009525,Orphanet,ORPHA:228123,Disorder,Disease,Coccidioidomycosis,California disease|Coccidioides infection|Desert fever|Desert rheumatism|San Joaquin valley fever|Valley fever +GARD:0009528,Orphanet,ORPHA:210,Disorder,Disease,Cyclosporosis, +GARD:0009534,Orphanet,ORPHA:2566,Disorder,Disease,Chronic Epstein-Barr virus infection syndrome,CAEBV syndrome|Chronic EBV infection syndrome +GARD:0009535,Orphanet,ORPHA:47045,Disorder,Disease,Familial cold urticaria,FCAS|FCU|Familial cold autoinflammatory syndrome +GARD:0009546,Orphanet,ORPHA:31202,Disorder,Disease,Melioidosis, +GARD:0009550,Orphanet,ORPHA:576370,Disorder,Disease,Variant Creutzfeldt-Jakob disease,Variant MCJ|vCJD +GARD:0009553,Orphanet,ORPHA:70568,Disorder,Disease,Post-transplant lymphoproliferative disease,PTLD +GARD:0009557,Orphanet,ORPHA:31205,Disorder,Disease,Rat-bite fever, +GARD:0009558,Orphanet,ORPHA:486,Disorder,Disease,Autosomal dominant severe congenital neutropenia, +GARD:0009560,Orphanet,ORPHA:36234,Disorder,Disease,Bacterial toxic-shock syndrome,Bacterial TSS +GARD:0009564,Orphanet,ORPHA:99745,Disorder,Disease,Typhoid,Typhoid fever|Typhoidal salmonellosis +GARD:0009568,Orphanet,ORPHA:49041,Subtype of disorder,Clinical subtype,IgG4-related retroperitoneal fibrosis,Idiopathic retroperitoneal fibrosis|Ormond disease +GARD:0009569,Orphanet,ORPHA:31112,Disorder,Disease,Dermatofibrosarcoma protuberans,DFSP +GARD:0009571,Orphanet,ORPHA:422526,Disorder,Disease,Hereditary clear cell renal cell carcinoma,Hereditary clear cell renal cell adenocarcinoma +GARD:0009572,Orphanet,ORPHA:319298,Disorder,Disease,Papillary renal cell carcinoma,Papillary renal cell adenocarcinoma +GARD:0009573,Orphanet,ORPHA:247203,Disorder,Disease,Collecting duct carcinoma,BDC|Bellini carcinoma|Bellini duct carcinoma|CDC +GARD:0009574,Orphanet,ORPHA:319276,Disorder,Disease,Clear cell renal carcinoma,CCRCC|Clear cell renal cell adenocarcinoma|Clear cell renal cell carcinoma +GARD:0009578,Orphanet,ORPHA:243367,Disorder,Disease,Acute fatty liver of pregnancy,AFLP +GARD:0009581,Orphanet,ORPHA:100996,Disorder,Disease,Autosomal recessive spastic paraplegia type 15,Hereditary spastic paraparesis type 15|Kjellin syndrome|SPG15|Spastic paraplegia-retinal degeneration syndrome +GARD:0009582,Orphanet,ORPHA:101005,Disorder,Disease,Autosomal recessive spastic paraplegia type 25,Autosomal recessive spastic paraplegia-disc herniation syndrome|SPG25 +GARD:0009583,Orphanet,ORPHA:447753,Disorder,Disease,Autosomal dominant spastic paraplegia type 9A,AD-SPG9A|Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome|Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome +GARD:0009585,Orphanet,ORPHA:100997,Disorder,Disease,X-linked spastic paraplegia type 16,SPG16 +GARD:0009586,Orphanet,ORPHA:100993,Disorder,Disease,Autosomal dominant spastic paraplegia type 12,SPG12 +GARD:0009587,Orphanet,ORPHA:101006,Disorder,Disease,Autosomal recessive spastic paraplegia type 26,GM2 synthase deficiency|SPG26 +GARD:0009588,Orphanet,ORPHA:100999,Disorder,Disease,Autosomal dominant spastic paraplegia type 19,SPG19 +GARD:0009589,Orphanet,ORPHA:100995,Disorder,Disease,Autosomal recessive spastic paraplegia type 14,SPG14 +GARD:0009590,Orphanet,ORPHA:100991,Disorder,Disease,Autosomal dominant spastic paraplegia type 10,SPG10 +GARD:0009591,Orphanet,ORPHA:100989,Disorder,Disease,Autosomal dominant spastic paraplegia type 8,SPG8 +GARD:0009595,Orphanet,ORPHA:1195,Disorder,Disease,Congenital atransferrinemia,Congenital hypotransferrinemia +GARD:0009598,Orphanet+OMIM,OMIM:114100,Subtype of disorder,Disease subtype,"Basal ganglia calcification, idiopathic, childhood-onset","cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset|striopallidodentate calcinosis, bilateral, childhood-onset|Ibgc, childhood-onset" +GARD:0009602,Orphanet,ORPHA:97,Disorder,Disease,Familial paroxysmal ataxia,Episodic ataxia type 2 +GARD:0009611,Orphanet,ORPHA:98768,Disorder,Disease,Spinocerebellar ataxia type 13,SCA13 +GARD:0009615,Orphanet,ORPHA:397,Disorder,Disease,Giant cell arteritis,Horton disease|Temporal arteritis +GARD:0009616,Orphanet,ORPHA:100994,Disorder,Disease,Autosomal dominant spastic paraplegia type 13,SPG13 +GARD:0009620,Orphanet,ORPHA:318,Disorder,Disease,Acute erythroid leukemia,AML M6|Acute myeloid leukemia M6|Erythroleukemia +GARD:0009621,Orphanet,ORPHA:180229,Disorder,Disease,Polyembryoma, +GARD:0009626,Orphanet+OMIM,OMIM:602482,Subtype of disorder,Morphological anomaly subtype|Malformation syndrome subtype,"Axenfeld-rieger syndrome, type 3","rieger syndrome, type 3|anterior chamber cleavage syndrome|Axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss" +GARD:0009628,Orphanet,ORPHA:71517,Disorder,Disease,Rapid-onset dystonia-parkinsonism,DYT12|Dystonia 12 +GARD:0009630,Orphanet,ORPHA:98806,Disorder,Disease,"Primary dystonia, DYT6 type",DYT6|Generalized cervical and upper-limb-onset dystonia|Idiopathic torsion dystonia of mixed type +GARD:0009631,Orphanet+OMIM,OMIM:602554,Subtype of disorder,Disease subtype,Torsion dystonia with onset in infancy, +GARD:0009632,Orphanet,ORPHA:77295,Subtype of disorder,Clinical subtype,Odontoleukodystrophy,Dentoleukoencephalopathy|Leukodystrophy with oligodontia +GARD:0009633,Orphanet+OMIM,OMIM:264420,Subtype of disorder,Disease subtype,"Fundus dystrophy, pseudoinflammatory, recessive form","Pfd, lavia type|pfd, finnish type" +GARD:0009634,Orphanet,ORPHA:994,Disorder,Malformation syndrome,Fetal akinesia deformation sequence,Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|FADS|Pena-Shokeir syndrome type 1 +GARD:0009635,Orphanet,ORPHA:64745,Disorder,Disease,Pruritic urticarial papules and plaques of pregnancy,PUPPP|Polymorphic eruption of pregnancy +GARD:0009640,Orphanet,ORPHA:33110,Subtype of disorder,Clinical subtype,Autosomal agammaglobulinemia,"Agammaglobulinemia, non-Bruton type" +GARD:0009642,Orphanet+OMIM,OMIM:600116,Subtype of disorder,Disease subtype,"Parkinson disease 2, autosomal recessive juvenile","parkinsonism, early-onset, with diurnal fluctuation|Parkinson disease, juvenile, autosomal recessive" +GARD:0009643,Orphanet,ORPHA:758,Disorder,Disease,Pseudoxanthoma elasticum,Gronblad-Strandberg-Touraine syndrome|PXE +GARD:0009647,Orphanet,ORPHA:98957,Disorder,Disease,Gelatinous drop-like corneal dystrophy,GDCD|Primary familial amyloidosis of the cornea|Subepithelial amyloidosis of the cornea +GARD:0009649,Orphanet+OMIM,OMIM:216900,Subtype of disorder,Disease subtype,Achromatopsia 2,"Colorblindness, total|rod monochromatism 2|rod monochromacy 2" +GARD:0009650,Orphanet+OMIM,OMIM:262300,Subtype of disorder,Disease subtype,Achromatopsia 3,"achromatopsia with myopia|rod monochromacy 1, formerly|total colorblindness with myopia|Pingelapese blindness|achm1, formerly|rod monochromatism 1, formerly" +GARD:0009652,Orphanet,ORPHA:352540,Disorder,Disease,Oncogenic osteomalacia,Oncogenic hypophosphatemic osteomalacia|TIO|Tumor-induced osteomalacia +GARD:0009654,Orphanet,ORPHA:330058,Disorder,Disease,Hydroa vacciniforme, +GARD:0009657,Orphanet,ORPHA:93347,Disorder,Disease,Anauxetic dysplasia,"Spondyloepimetaphyseal dysplasia, Menger type|Spondyloepimetaphyseal dysplasia, anauxetic type" +GARD:0009659,Orphanet,ORPHA:93605,Subtype of disorder,Clinical subtype,Bartter syndrome type 3,Bartter syndrome type III +GARD:0009661,Orphanet+OMIM,OMIM:604232,Subtype of disorder,Disease subtype,Leber congenital amaurosis 3, +GARD:0009662,Orphanet+OMIM,OMIM:604393,Subtype of disorder,Disease subtype,Leber congenital amaurosis 4, +GARD:0009665,Orphanet,ORPHA:99914,Disorder,Disease,Gynandroblastoma, +GARD:0009670,Orphanet,ORPHA:329,Disorder,Disease,Congenital factor XI deficiency,Hemophilia C|PTA deficiency|Plasma thromboplastin antecedent deficiency|Rosenthal factor deficiency|Rosenthal syndrome +GARD:0009673,Orphanet,ORPHA:2152,Disorder,Malformation syndrome,Mowat-Wilson syndrome,Hirschsprung disease-intellectual disability syndrome +GARD:0009675,Orphanet,ORPHA:2306,Disorder,Malformation syndrome,Isotretinoin-like syndrome,Kawashima syndrome|Microtia-aortic arch syndrome +GARD:0009676,Orphanet,ORPHA:45448,Disorder,Disease,Miyoshi myopathy, +GARD:0009677,Orphanet,ORPHA:98962,Disorder,Disease,Granular corneal dystrophy type I,Classic GCD|Classic granular corneal dystrophy|Corneal dystrophy Groenouw type I|GCD1|GCDI|Granular corneal dystrophy type 1 +GARD:0009678,Orphanet,ORPHA:98964,Disorder,Disease,Lattice corneal dystrophy type I,Biber-Haab-Dimmer dystrophy|Classic lattice corneal dystrophy|LCD1|LCDI|Lattice corneal dystrophy type 1 +GARD:0009679,Orphanet,ORPHA:363417,Disorder,Malformation syndrome,Temtamy preaxial brachydactyly syndrome, +GARD:0009681,Orphanet,ORPHA:140976,Disorder,Disease,RHYNS syndrome,Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome +GARD:0009682,Orphanet,ORPHA:309803,Subtype of disorder,Etiological subtype,Rhizomelic chondrodysplasia punctata type 3, +GARD:0009683,Orphanet,ORPHA:71,Disorder,Disease,Chylomicron retention disease,Anderson disease|CMRD|CRD +GARD:0009684,Orphanet,ORPHA:71272,Disorder,Disease,Sandifer syndrome, +GARD:0009687,Orphanet,ORPHA:1247,Disorder,Disease,Schistosomiasis,Bilharziasis +GARD:0009688,Orphanet,ORPHA:98954,Disorder,Disease,Meesmann corneal dystrophy,Juvenile hereditary epithelial dystrophy of Meesmann|MECD +GARD:0009689,Orphanet+OMIM,OMIM:254210,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 6, presynaptic","Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|myasthenia gravis, familial infantile, 2, formerly|cms ia2, formerly|myasthenia, familial infantile, formerly|congenital myasthenic syndrome type ia2, formerly" +GARD:0009690,Orphanet,ORPHA:97332,Disorder,Disease,Kienbock disease,Aseptic necrosis of the lunate bone|Lunatomalacia|Osteochondrosis of the lunate bone|Progressive avascular necrosis of the lunate bone +GARD:0009692,Orphanet,ORPHA:295036,Disorder,Morphological anomaly,Congenital patella dislocation, +GARD:0009694,Orphanet,ORPHA:79403,Disorder,Disease,Junctional epidermolysis bullosa with pyloric atresia,Carmi syndrome|JEB with pyloric atresia|JEB-PA +GARD:0009696,Orphanet,ORPHA:91481,Disorder,Disease,Ring dermoid of cornea,Ring dermoid syndrome +GARD:0009697,Orphanet,ORPHA:65684,Disorder,Disease,Monomelic amyotrophy,Benign focal amyotrophy|Hirayama disease|JMADUE|Juvenile muscular atrophy of distal upper extremity|Juvenile muscular atrophy of the distal upper limb +GARD:0009698,Orphanet,ORPHA:96167,Disorder,Malformation syndrome,Recombinant 8 syndrome,Duplication 8q/deletion 8p|Rec(8) syndrome|Rec8 syndrome|Recombinant chromosome 8 syndrome|San Luis Valley syndrome +GARD:0009701,Orphanet+OMIM,OMIM:182990,Subtype of disorder,Morphological anomaly subtype,Spinal intradural arachnoid cysts, +GARD:0009703,Orphanet+OMIM,OMIM:608681,Subtype of disorder,Malformation syndrome subtype,"Spondylocostal dysostosis 2, autosomal recessive", +GARD:0009704,Orphanet,ORPHA:85287,Disorder,Malformation syndrome,"X-linked intellectual disability, Siderius type", +GARD:0009705,Orphanet,ORPHA:158668,Disorder,Disease,Ectodermal dysplasia-skin fragility syndrome,McGrath syndrome +GARD:0009706,Orphanet,ORPHA:91496,Disorder,Disease,Snowflake vitreoretinal degeneration, +GARD:0009707,Orphanet,ORPHA:211,Subtype of disorder,Clinical subtype,Familial cylindromatosis,Turban tumor syndrome +GARD:0009711,Orphanet,ORPHA:46059,Disorder,Disease,Lathosterolosis,Sterol C5-desaturase deficiency +GARD:0009715,Orphanet,ORPHA:79478,Subtype of disorder,Clinical subtype,Griscelli syndrome type 3,Griscelli-Pruniéras syndrome type 3 +GARD:0009723,Orphanet,ORPHA:1883,Disorder,Malformation syndrome,Ectodermal dysplasia-sensorineural deafness syndrome,Ectodermal dysplasia-sensorineural hearing loss syndrome +GARD:0009725,Orphanet,ORPHA:137617,Disorder,Disease,Nephrogenic systemic fibrosis,Nephrogenic fibrosing dermopathy +GARD:0009726,Orphanet+OMIM,OMIM:603622,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 17", +GARD:0009728,Orphanet,ORPHA:606,Disorder,Disease,Proximal myotonic myopathy,Myotonic dystrophy type 2|Proximal myotonic dystrophy|Ricker disease|Ricker syndrome +GARD:0009729,Orphanet,ORPHA:101009,Disorder,Disease,Autosomal dominant spastic paraplegia type 29,SPG29 +GARD:0009730,Orphanet,ORPHA:34587,Disorder,Disease,Glycogen storage disease due to LAMP-2 deficiency,Danon disease|GSD due to LAMP-2 deficiency|Glycogenosis due to LAMP-2 deficiency|Lysosomal glycogen storage disease with normal acid maltase activity +GARD:0009732,Orphanet,ORPHA:98956,Disorder,Disease,Epithelial basement membrane dystrophy,Anterior basement membrane dystrophy|Cogan microcystic epithelial dystrophy|EBMD|Map-dot-fingerprint dystrophy +GARD:0009733,Orphanet+OMIM,OMIM:601277,Subtype of disorder,Disease subtype,"Ichthyosis, congenital, autosomal recessive 4a","ichthyosis, lamellar, 2, formerly|Ichthyosis congenita iib" +GARD:0009734,Orphanet+OMIM,OMIM:604777,Subtype of disorder,Disease subtype,"Ichthyosis, congenital, autosomal recessive 5","ichthyosis congenita iii|ichthyosis, lamellar, 3, formerly|Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive" +GARD:0009736,Orphanet,ORPHA:79394,Disorder,Disease,Congenital non-bullous ichthyosiform erythroderma,CIE|Erythrodermic ichthyosis|Non-bullous congenital ichthyosiform erythroderma +GARD:0009737,Orphanet,ORPHA:79397,Disorder,Disease,Epidermolysis bullosa simplex with mottled pigmentation,EBS with mottled pigmentation|EBS-MP +GARD:0009740,Orphanet,ORPHA:334,Disorder,Disease,Familial atrial fibrillation, +GARD:0009741,Orphanet,ORPHA:137754,Disorder,Disease,Neurological conditions associated with aminoacylase 1 deficiency,ACY1D|N-acyl-L-amino acid amidohydrolase deficiency +GARD:0009742,Orphanet,ORPHA:78,Disorder,Disease,Ankylostomiasis,Ancylostomiasis|Hookworm infection +GARD:0009744,Orphanet,ORPHA:79100,Disorder,Disease,Atrophoderma vermiculata,Folliculitis ulerythematosa reticulate +GARD:0009748,Orphanet,ORPHA:90291,Disorder,Disease,Systemic sclerosis,Systemic scleroderma +GARD:0009749,Orphanet,ORPHA:220407,Subtype of disorder,Clinical subtype,Limited systemic sclerosis,Systemic sclerosis sine scleroderma +GARD:0009751,Orphanet,ORPHA:220393,Subtype of disorder,Clinical subtype,Diffuse cutaneous systemic sclerosis,Diffuse cutaneous systemic scleroderma|Progressive cutaneous systemic scleroderma|Progressive cutaneous systemic sclerosis +GARD:0009755,Orphanet,ORPHA:411629,Subtype of disorder,Clinical subtype,Infantile nephropathic cystinosis, +GARD:0009756,Orphanet,ORPHA:411641,Subtype of disorder,Clinical subtype,Ocular cystinosis,Adult-onset cystinosis|Non-nephropathic cystinosis +GARD:0009758,Orphanet,ORPHA:101049,Subtype of disorder,Etiological subtype,Familial hypocalciuric hypercalcemia type 2,FHH type 2 +GARD:0009759,Orphanet,ORPHA:2387,Disorder,Disease,Leukonychia totalis, +GARD:0009761,Orphanet,ORPHA:79144,Disorder,Disease,Isolated congenital onychodysplasia,COIF|COIF syndrome|Congenital onychodysplasia of the index fingers|Iso-Kikuchi syndrome +GARD:0009762,Orphanet,ORPHA:52022,Disorder,Malformation syndrome,Potocki-Shaffer syndrome,11p11.2 deletion|Proximal 11p deletion syndrome +GARD:0009766,Orphanet,ORPHA:83467,Disorder,Disease,Morvan syndrome,Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome|Morvan fibrillary chorea +GARD:0009767,Orphanet,ORPHA:391673,Disorder,Disease,Necrotizing enterocolitis, +GARD:0009769,Orphanet,ORPHA:251656,Disorder,Disease,Oligoastrocytoma,MOA|Mixed oligoastrocytoma +GARD:0009775,Orphanet,ORPHA:79145,Disorder,Disease,Dowling-Degos disease,Reticular pigment anomaly of flexures +GARD:0009778,Orphanet,ORPHA:71279,Disorder,Disease,CANOMAD syndrome,CANDA syndrome|Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome|Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies +GARD:0009781,Orphanet,ORPHA:1762,Disorder,Malformation syndrome,Proximal Xq28 duplication syndrome,"MECP2 duplication syndrome|X-linked intellectual disability syndrome, Lubs type" +GARD:0009787,Orphanet,ORPHA:90307,Disorder,Disease,Parkes Weber syndrome, +GARD:0009789,Orphanet,ORPHA:2415,Group of disorders,Category,Rare lymphatic malformation,LM|Lymphangioma +GARD:0009791,Orphanet+OMIM,OMIM:600204,Subtype of disorder,Disease subtype,"Epiphyseal dysplasia, multiple, 2", +GARD:0009792,Orphanet+OMIM,OMIM:600969,Subtype of disorder,Disease subtype,"Epiphyseal dysplasia, multiple, 3", +GARD:0009793,Orphanet,ORPHA:93307,Disorder,Disease,Multiple epiphyseal dysplasia type 4,Autosomal recessive multiple epiphyseal dysplasia|EDM4|MED4|Polyepiphyseal dysplasia type 4|rMED +GARD:0009794,Orphanet,ORPHA:93311,Disorder,Disease,Multiple epiphyseal dysplasia type 5,BHMED|Bilateral hereditary micro-epiphyseal dysplasia|EDM5|MED5|Polyepiphyseal dysplasia type 5 +GARD:0009795,Orphanet,ORPHA:34217,Disorder,Disease,Naxos disease,KWWH type I|Keratoderma with woolly hair type I|Keratosis palmoplantaris with arrythmogenic cardiomyopathy|Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|Palmoplantar keratoderma with arrythmogenic cardiomyopathy +GARD:0009796,Orphanet,ORPHA:275517,Disorder,Disease,Autoimmune lymphoproliferative syndrome with recurrent viral infections,ALPS with recurrent viral infections|CEDS|Caspase 8 deficiency syndrome +GARD:0009797,Orphanet,ORPHA:275523,Disorder,Disease,Dianzani autoimmune lymphoproliferative disease,DALD +GARD:0009798,Orphanet,ORPHA:137888,Disorder,Malformation syndrome,Auriculocondylar syndrome,Question mark ear syndrome +GARD:0009799,Orphanet,ORPHA:53296,Disorder,Disease,Familial cutaneous collagenoma, +GARD:0009802,Orphanet,ORPHA:79306,Subtype of disorder,Clinical subtype,Progressive familial intrahepatic cholestasis type 1,Byler disease|FIC1 deficiency|PFIC1 +GARD:0009803,Orphanet,ORPHA:480483,Subtype of disorder,Clinical subtype,Progressive familial intrahepatic cholestasis type 4,PFIC4|TJP2 deficit +GARD:0009804,Orphanet,ORPHA:69665,Disorder,Disease,Intrahepatic cholestasis of pregnancy,Gravidic intrahepatic cholestasis|Pregnancy-related cholestasis|Recurrent intrahepatic cholestasis of pregnancy +GARD:0009806,Orphanet,ORPHA:493342,Disorder,Disease,Vibratory urticaria, +GARD:0009808,Orphanet,ORPHA:251612,Disorder,Disease,Pilocytic astrocytoma, +GARD:0009809,Orphanet,ORPHA:86880,Disorder,Disease,Enteropathy-associated T-cell lymphoma,EATL|ETTL|Enteropathy-type T-cell lymphoma|Intestinal T-cell lymphoma +GARD:0009810,Orphanet,ORPHA:156731,Disorder,Disease,"Dyssegmental dysplasia, Rolland-Desbuquois type", +GARD:0009811,Orphanet,ORPHA:3044,Disorder,Malformation syndrome,Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome, +GARD:0009812,Orphanet,ORPHA:86872,Disorder,Disease,T-cell large granular lymphocyte leukemia,Proliferation of large granular lymphocytes|T-LGL|T-cell LGL leukemia +GARD:0009813,Orphanet,ORPHA:79301,Disorder,Disease,Congenital bile acid synthesis defect type 1,3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency|BASD1 +GARD:0009814,Orphanet+OMIM,OMIM:609428,Subtype of disorder,Disease subtype,Tukel syndrome, +GARD:0009817,Orphanet,ORPHA:98808,Disorder,Disease,Autosomal dominant dopa-responsive dystonia,Autosomal dominant Segawa syndrome|DYT5a|GTPCH1-deficient DRD|GTPCH1-deficient dopa-responsive dystonia|HPD with marked diurnal fluctuation|Hereditary progressive dystonia with marked diurnal fluctuation +GARD:0009818,Orphanet,ORPHA:79107,Disorder,Malformation syndrome,Developmental malformations-deafness-dystonia syndrome,Developmental malformations-hearing loss-dystonia syndrome +GARD:0009820,Orphanet,ORPHA:464343,Disorder,Disease,Catastrophic antiphospholipid syndrome,CAPS|Catastrophic APS +GARD:0009821,Orphanet,ORPHA:63454,Group of disorders,Category,Pattern dystrophy,Patterned dystrophy of the retinal pigment epithelium +GARD:0009826,Orphanet,ORPHA:79318,Disorder,Disease,PMM2-CDG,CDG syndrome type Ia|CDG-Ia|CDG1A|Carbohydrate deficient glycoprotein syndrome type Ia|Congenital disorder of glycosylation type 1a|Congenital disorder of glycosylation type Ia|Phosphomannomutase 2 deficiency +GARD:0009827,Orphanet,ORPHA:79321,Disorder,Disease,ALG3-CDG,CDG syndrome type Id|CDG-Id|CDG1D|Carbohydrate deficient glycoprotein syndrome type Id|Congenital disorder of glycosylation type 1d|Congenital disorder of glycosylation type Id|Mannosyltransferase 6 deficiency +GARD:0009828,Orphanet,ORPHA:79329,Disorder,Disease,MGAT2-CDG,CDG syndrome type IIa|CDG-IIa|CDG2A|Carbohydrate deficient glycoprotein syndrome type IIa|Congenital disorder of glycosylation type 2a|Congenital disorder of glycosylation type IIa|N-acetylglucosaminyltransferase 2 deficiency +GARD:0009829,Orphanet,ORPHA:79320,Disorder,Disease,ALG6-CDG,CDG syndrome type Ic|CDG-Ic|CDG1C|Carbohydrate deficient glycoprotein syndrome type Ic|Congenital disorder of glycosylation type 1c|Congenital disorder of glycosylation type Ic|Glucosyltransferase 1 deficiency +GARD:0009830,Orphanet,ORPHA:79319,Disorder,Disease,MPI-CDG,CDG syndrome type Ib|CDG-Ib|CDG1B|Carbohydrate deficient glycoprotein syndrome type Ib|Congenital disorder of glycosylation type 1b|Congenital disorder of glycosylation type Ib|Phosphomannose isomerase deficiency +GARD:0009831,Orphanet,ORPHA:79322,Disorder,Disease,DPM1-CDG,CDG syndrome type Ie|CDG-Ie|CDG1E|Carbohydrate deficient glycoprotein syndrome type Ie|Congenital disorder of glycosylation type 1e|Congenital disorder of glycosylation type Ie|Dol-P-mannosyltransferase deficiency +GARD:0009832,Orphanet,ORPHA:79323,Disorder,Disease,MPDU1-CDG,CDG syndrome type If|CDG-If|CDG1F|Carbohydrate deficient glycoprotein syndrome type If|Congenital disorder of glycosylation type 1f|Congenital disorder of glycosylation type If +GARD:0009833,Orphanet,ORPHA:79324,Disorder,Disease,ALG12-CDG,CDG syndrome type Ig|CDG-Ig|CDG1G|Carbohydrate deficient glycoprotein syndrome type Ig|Congenital disorder of glycosylation type 1g|Congenital disorder of glycosylation type Ig|Mannosyltransferase 8 deficiency +GARD:0009834,Orphanet,ORPHA:79325,Disorder,Disease,ALG8-CDG,CDG syndrome type Ih|CDG-Ih|CDG1H|Carbohydrate deficient glycoprotein syndrome type Ih|Congenital disorder of glycosylation type 1h|Congenital disorder of glycosylation type Ih|Glucosyltransferase 2 deficiency +GARD:0009835,Orphanet,ORPHA:96170,Disorder,Malformation syndrome,Emanuel syndrome,Der(22)t(11;22) syndrome|Supernumerary der(22) syndrome +GARD:0009836,Orphanet,ORPHA:79326,Disorder,Disease,ALG2-CDG,CDG syndrome type Ii|CDG-Ii|CDG1I|Carbohydrate deficient glycoprotein syndrome type Ii|Congenital disorder of glycosylation type 1i|Congenital disorder of glycosylation type Ii|Mannosyltransferase 2 deficiency +GARD:0009837,Orphanet,ORPHA:86309,Disorder,Disease,DPAGT1-CDG,CDG syndrome type Ij|CDG-Ij|CDG1J|Carbohydrate deficient glycoprotein syndrome type Ij|Congenital disorder of glycosylation type 1j|Congenital disorder of glycosylation type Ij|Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency +GARD:0009838,Orphanet,ORPHA:79327,Disorder,Disease,ALG1-CDG,CDG syndrome type Ik|CDG-Ik|CDG1K|Carbohydrate deficient glycoprotein syndrome type Ik|Congenital disorder of glycosylation type 1k|Congenital disorder of glycosylation type Ik|Mannosyltransferase 1 deficiency +GARD:0009839,Orphanet,ORPHA:79328,Disorder,Disease,ALG9-CDG,CDG syndrome type IL|CDG-IL|CDG1L|Carbohydrate deficient glycoprotein syndrome type IL|Congenital disorder of glycosylation type 1L|Mannosyltransferase 7-9 deficiency +GARD:0009841,Orphanet,ORPHA:79332,Disorder,Disease,B4GALT1-CDG,"Beta-1,4-galactosyltransferase deficiency|CDG syndrome type IId|CDG-IId|CDG2D|Carbohydrate deficient glycoprotein syndrome type IId|Congenital disorder of glycosylation type 2d|Congenital disorder of glycosylation type IId" +GARD:0009842,Orphanet,ORPHA:79333,Disorder,Disease,COG7-CDG,CDG syndrome type IIe|CDG-IIe|CDG2E|Carbohydrate deficient glycoprotein syndrome type IIe|Congenital disorder of glycosylation type 2e|Congenital disorder of glycosylation type IIe +GARD:0009843,Orphanet,ORPHA:90042,Disorder,Disease,Primary familial polycythemia,Congenital erythrocytosis due to erythropoietin receptor mutation|Congenital polycythemia due to erythropoietin receptor mutation|Familial erythrocytosis|PFCP|Primary congenital erythrocytosis|Primary familial and congenital polycythemia +GARD:0009844,Orphanet,ORPHA:2637,Disorder,Malformation syndrome,Microcephalic osteodysplastic primordial dwarfism type II,MOPD type II|Majewski osteodysplastic primordial dwarfism type II +GARD:0009846,Orphanet,ORPHA:168796,Disorder,Malformation syndrome,"Heart-hand syndrome, Slovenian type","Atriodigital dysplasia, Slovenian type|Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome" +GARD:0009847,Orphanet,ORPHA:1350,Disorder,Malformation syndrome,Heart-hand syndrome type 2,Atriodigital dysplasia type 2|Tabatznik syndrome +GARD:0009848,Orphanet,ORPHA:71278,Disorder,Disease,Congenital brain dysgenesis due to glutamine synthetase deficiency,Inherited GS deficiency|Inherited glutamine synthetase deficiency +GARD:0009849,Orphanet,ORPHA:66629,Disorder,Malformation syndrome,Goldberg-Shprintzen megacolon syndrome,GOSHS|Megacolon-microcephaly syndrome +GARD:0009850,Orphanet,ORPHA:3164,Disorder,Malformation syndrome,"Omphalocele syndrome, Shprintzen-Goldberg type", +GARD:0009863,Orphanet+OMIM,OMIM:186400,Subtype of disorder,Malformation syndrome subtype,"Synostoses, tarsal, carpal, and digital",Calcaneonavicular coalition +GARD:0009866,Orphanet,ORPHA:93360,Disorder,Disease,Spondyloepimetaphyseal dysplasia with multiple dislocations,"SEMD-MD|SEMDJL2|Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type|Spondyloepimetaphyseal dysplasia with joint laxity type 2|Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" +GARD:0009867,Orphanet,ORPHA:98763,Disorder,Disease,Spinocerebellar ataxia type 14,SCA14 +GARD:0009870,Orphanet,ORPHA:71212,Disorder,Disease,Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|Hyperinsulinism due to SCHAD deficiency|Hyperinsulinism due to glutamodehydrogenase deficiency|SCHAD deficiency +GARD:0009873,Orphanet,ORPHA:2789,Disorder,Malformation syndrome,Lateral meningocele syndrome,Lehman syndrome +GARD:0009874,Orphanet+OMIM,OMIM:608030,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia, +GARD:0009876,Orphanet+OMIM,OMIM:132900,Subtype of disorder,Disease subtype,"Aortic aneurysm, familial thoracic 4",aortic aneurysm/aortic dissection and patent ductus arteriosus|Faa4 +GARD:0009879,Orphanet,ORPHA:2639,Disorder,Malformation syndrome,Fibular aplasia-complex brachydactyly syndrome,Du Pan syndrome +GARD:0009882,Orphanet,ORPHA:168588,Disorder,Malformation syndrome,Hyperandrogenism due to cortisone reductase deficiency,11-beta-hydroxysteroid dehydrogenase deficiency type 1 +GARD:0009884,Orphanet,ORPHA:86834,Disorder,Disease,Juvenile myelomonocytic leukemia,JMML|Juvenile chronic myelomonocytic leukemia +GARD:0009885,Orphanet+OMIM,OMIM:609942,Subtype of disorder,Malformation syndrome subtype,Noonan syndrome 3, +GARD:0009886,Orphanet,ORPHA:88621,Disorder,Disease,Ichthyosis-prematurity syndrome,Congenital ichthyosis type 4|IPS +GARD:0009887,Orphanet,ORPHA:251287,Disorder,Disease,Benign concentric annular macular dystrophy, +GARD:0009888,Orphanet,ORPHA:79246,Subtype of disorder,Clinical subtype,Pyruvate dehydrogenase phosphatase deficiency,PDH phosphatase deficiency +GARD:0009890,Orphanet,ORPHA:98673,Disorder,Disease,"Autosomal dominant optic atrophy, classic form","Autosomal dominant optic atrophy, Kjer type|Kjer optic atrophy|Optic atrophy type 1" +GARD:0009892,Orphanet+OMIM,OMIM:610019,Subtype of disorder,Clinical subtype,Cataract 18,"Cataract, autosomal recessive congenital 2" +GARD:0009895,Orphanet+OMIM,OMIM:616313,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 2a, slow-channel", +GARD:0009898,Orphanet,ORPHA:88628,Disorder,Disease,Posterior column ataxia-retinitis pigmentosa syndrome,Autosomal recessive posterior column ataxia and retinitis pigmentosa|PCARP +GARD:0009900,Orphanet,ORPHA:2414,Disorder,Disease,Congenital pulmonary lymphangiectasia,Pulmonary lymphangiomatosis +GARD:0009901,Orphanet+OMIM,OMIM:600376,Subtype of disorder,Disease subtype,"Telangiectasia, hereditary hemorrhagic, type 2", +GARD:0009902,Orphanet+OMIM,OMIM:601101,Subtype of disorder,Disease subtype,"Telangiectasia, hereditary hemorrhagic, type 3", +GARD:0009903,Orphanet,ORPHA:93338,Disorder,Morphological anomaly,Polysyndactyly,PPD4|Preaxial polydactyly type 4 +GARD:0009904,Orphanet,ORPHA:75325,Disorder,Disease,Osteosclerosis-ichthyosis-premature ovarian failure syndrome,Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome +GARD:0009905,Orphanet,ORPHA:144,Disorder,Disease,Lynch syndrome, +GARD:0009907,GARD,,Subtype of disorder,Disease,Amyopathic dermatomyositis,ADM|Dermatomyositis sine myositis +GARD:0009909,Orphanet+OMIM,OMIM:601680,Subtype of disorder,Malformation syndrome subtype,"Arthrogryposis, distal, type 2b1","freeman-sheldon syndrome variant|Arthrogryposis multiplex congenita, distal, type 2b|arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome" +GARD:0009910,Orphanet,ORPHA:158687,Disorder,Disease,Lethal acantholytic erosive disorder, +GARD:0009911,Orphanet+OMIM,OMIM:609955,Subtype of disorder,Malformation syndrome subtype,"Fibromatosis, gingival, 3", +GARD:0009912,Orphanet,ORPHA:2382,Disorder,Disease,Lennox-Gastaut syndrome, +GARD:0009914,Orphanet+OMIM,OMIM:601894,Subtype of disorder,Disease subtype,Glomerulopathy with fibronectin deposits 2,"fibronectin glomerulopathy|Glomerular nephritis, familial, with fibronectin deposits" +GARD:0009916,Orphanet+OMIM,OMIM:610017,Subtype of disorder,Malformation syndrome subtype,Multiple synostoses syndrome 2, +GARD:0009918,Orphanet+OMIM,OMIM:609941,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 51", +GARD:0009919,Orphanet+OMIM,OMIM:609952,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 55", +GARD:0009920,Orphanet,ORPHA:298,Disorder,Disease,Mitochondrial neurogastrointestinal encephalomyopathy,MNGIE +GARD:0009921,Orphanet,ORPHA:2770,Disorder,Malformation syndrome,Nasu-Hakola disease,NHD|PLO-SL|PLOSL|Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy +GARD:0009922,Orphanet+OMIM,OMIM:603553,Subtype of disorder,Disease subtype,"Hemophagocytic lymphohistiocytosis, familial, 2",hlh2|Hplh2 +GARD:0009928,Orphanet+OMIM,OMIM:608898,Subtype of disorder,Disease subtype,"Hemophagocytic lymphohistiocytosis, familial, 3",hlh3|Hplh3 +GARD:0009929,Orphanet+OMIM,OMIM:603552,Subtype of disorder,Disease subtype,"Hemophagocytic lymphohistiocytosis, familial, 4",Hplh4|hlh4 +GARD:0009931,Orphanet,ORPHA:35878,Disorder,Disease,Hyperinsulinism-hyperammonemia syndrome,HI/HA syndrome +GARD:0009932,Orphanet,ORPHA:165991,Disorder,Disease,Exercise-induced hyperinsulinism,EIHI|Exercise-induced hyperinsulinemic hypoglycemia|Hyperinsulinism due to SLC16A1 deficiency|Hyperinsulinism due to monocarboxylate transporter 1 deficiency +GARD:0009933,Orphanet+OMIM,OMIM:601544,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 3a", +GARD:0009934,Orphanet+OMIM,OMIM:609965,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 53", +GARD:0009935,Orphanet+OMIM,OMIM:609946,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 47", +GARD:0009936,Orphanet,ORPHA:98813,Disorder,Disease,Hypohidrotic ectodermal dysplasia with immunodeficiency,Anhidrotic ectodermal dysplasia with immunodeficiency|EDA-ID|HED-ID +GARD:0009937,Orphanet+OMIM,OMIM:608908,Subtype of disorder,Disease subtype,Myopia 6, +GARD:0009940,Orphanet,ORPHA:66631,Disorder,Disease,CEDNIK syndrome,Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome +GARD:0009941,Orphanet,ORPHA:269,Disorder,Disease,Facioscapulohumeral dystrophy,FSH dystrophy|FSHD|Facioscapulohumeral muscular dystrophy|Facioscapulohumeral myopathy|Landouzy-Dejerine dystrophy|Landouzy-Dejerine myopathy +GARD:0009943,Orphanet+OMIM,OMIM:301200,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, type ie","Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1|amelogenesis imperfecta, hypomaturation type, with snow-capped teeth|enamel hypoplasia, x-linked|amelogenesis imperfecta, x-linked 1" +GARD:0009944,Orphanet+OMIM,OMIM:301201,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2", +GARD:0009947,Orphanet,ORPHA:137831,Disorder,Disease,X-linked intellectual disability-cerebellar hypoplasia syndrome,OPHN1 syndrome|Oligophrenin-1 syndrome +GARD:0009950,Orphanet,ORPHA:101108,Disorder,Disease,Spinocerebellar ataxia type 23,SCA23 +GARD:0009951,Orphanet,ORPHA:101109,Disorder,Disease,Spinocerebellar ataxia type 28,SCA28 +GARD:0009952,Orphanet,ORPHA:83461,Disorder,Malformation syndrome,Congenital primary aphakia, +GARD:0009953,Orphanet,ORPHA:251627,Disorder,Disease,Oligodendroglioma, +GARD:0009959,Orphanet,ORPHA:83476,Disorder,Disease,West-Nile encephalitis,West-Nile fever +GARD:0009963,Orphanet,ORPHA:98764,Disorder,Disease,Spinocerebellar ataxia type 27,SCA27 +GARD:0009964,Orphanet,ORPHA:97234,Disorder,Disease,Glycogen storage disease due to phosphoglycerate mutase deficiency,GSD due to phosphoglycerate mutase deficiency|GSD type 10|Glycogenosis due to phosphoglycerate mutase deficiency|Muscle phosphoglycerate mutase deficiency|Myopathy due to phosphoglycerate mutase deficiency +GARD:0009965,Orphanet,ORPHA:83639,Disorder,Disease,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,Congenital disorder of glycosylation due to PIGM deficiency|PIGM-CDG +GARD:0009966,Orphanet+OMIM,OMIM:604356,Subtype of disorder,Malformation syndrome subtype,Duane retraction syndrome 2, +GARD:0009970,Orphanet,ORPHA:98765,Disorder,Disease,Spinocerebellar ataxia type 4,SCA4 +GARD:0009971,Orphanet,ORPHA:95433,Disorder,Disease,Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,Autosomal recessive spinocerebellar ataxia type 3|Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome|SCABD|SCAR3 +GARD:0009975,Orphanet,ORPHA:217012,Disorder,Disease,Spinocerebellar ataxia type 31,SCA31 +GARD:0009976,Orphanet,ORPHA:98771,Disorder,Disease,Spinocerebellar ataxia type 18,SCA18 +GARD:0009977,Orphanet,ORPHA:83472,Disorder,Malformation syndrome,CAMOS syndrome,Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome|SCAR5 +GARD:0009980,Orphanet,ORPHA:85292,Disorder,Disease,X-linked spinocerebellar ataxia type 4,SCAX4|X-linked ataxia-dementia syndrome +GARD:0009981,Orphanet,ORPHA:85297,Disorder,Malformation syndrome,X-linked spinocerebellar ataxia type 3,SCAX3|X-linked ataxia-deafness syndrome|X-linked ataxia-hearing loss syndrome +GARD:0009983,Orphanet+OMIM,OMIM:604537,Subtype of disorder,Disease subtype,Leber congenital amaurosis 5, +GARD:0009984,Orphanet,ORPHA:85283,Disorder,Malformation syndrome,"X-linked intellectual disability, Miles-Carpenter type", +GARD:0009987,Orphanet,ORPHA:275,Disorder,Disease,Severe combined immunodeficiency due to DCLRE1C deficiency,"SCID due to ARTEMIS deficiency|SCID due to DCLRE1C deficiency|SCID, Athabascan type|SCID, Athabaskan type|Severe combined immunodeficiency due to ARTEMIS deficiency|Severe combined immunodeficiency, Athabascan type|Severe combined immunodeficiency, Athabaskan type" +GARD:0009989,Orphanet,ORPHA:90154,Subtype of disorder,Clinical subtype,Mandibuloacral dysplasia with type B lipodystrophy, +GARD:0009991,Orphanet,ORPHA:75496,Subtype of disorder,Clinical subtype,B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome,B4GALT7-related spondylodysplastic EDS|EDS progeroid type 1|EDS with short stature and limb anomalies|spEDS-B4GALT7 +GARD:0009993,Orphanet,ORPHA:97229,Disorder,Malformation syndrome,Riboflavin transporter deficiency,Brown-Vialetto-van Laere syndrome +GARD:0009994,Orphanet,ORPHA:600731,Disorder,Malformation syndrome,Clark-Baraitser syndrome, +GARD:0009995,Orphanet,ORPHA:101112,Disorder,Disease,Spinocerebellar ataxia type 26,SCA26 +GARD:0009996,Orphanet,ORPHA:101111,Disorder,Disease,Spinocerebellar ataxia type 25,SCA25 +GARD:0009997,Orphanet,ORPHA:101110,Disorder,Disease,Spinocerebellar ataxia type 20,SCA20 +GARD:0009998,Orphanet,ORPHA:70595,Disorder,Disease,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,SANDO +GARD:0009999,Orphanet,ORPHA:98773,Disorder,Disease,Spinocerebellar ataxia type 21,SCA21 +GARD:0010000,Orphanet,ORPHA:94124,Disorder,Disease,Spinocerebellar ataxia with axonal neuropathy type 1,SCAN1 +GARD:0010001,Orphanet,ORPHA:53689,Disorder,Disease,Congenital chloride diarrhea, +GARD:0010005,Orphanet,ORPHA:871,Disorder,Disease,Familial progressive cardiac conduction defect,Familial Lenègre disease|Familial Lev disease|Familial Lev-Lenègre disease|Familial PCCD|Familial progressive heart block|Hereditary bundle branch defect +GARD:0010007,Orphanet+OMIM,OMIM:300310,Subtype of disorder,Clinical subtype,Immunodeficiency 61,"Agammaglobulinemia, x-linked, type 2|xla2" +GARD:0010009,Orphanet,ORPHA:1183,Disorder,Disease,Opsoclonus-myoclonus syndrome,Ataxo-opso-myoclonus syndrome|Dancing eye syndrome|Dancing eye-dancing feet syndrome|Kinsbourne syndrome|OMA syndrome|OMS|Opsoclonus-myoclonus-ataxia syndrome|POMA syndrome|Paraneoplastic opsoclonus-myoclonus|Paraneoplastic opsoclonus-myoclonus-ataxia syndrome +GARD:0010010,Orphanet,ORPHA:79411,Disorder,Disease,Self-improving dystrophic epidermolysis bullosa,Self-improving DEB|Transient bullous dermolysis of the newborn +GARD:0010011,Orphanet,ORPHA:83617,Disorder,Malformation syndrome,Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome, +GARD:0010012,Orphanet,ORPHA:85164,Disorder,Disease,Camptodactyly-tall stature-scoliosis-hearing loss syndrome,CATSHL syndrome|Camptodactyly-tall stature-scoliosis-deafness syndrome +GARD:0010014,Orphanet,ORPHA:97352,Disorder,Disease,Pellagra, +GARD:0010018,Orphanet,ORPHA:98974,Disorder,Disease,Fuchs endothelial corneal dystrophy,Endoepithelial corneal dystrophy|FECD|Late hereditary endothelial dystrophy +GARD:0010023,Orphanet+OMIM,OMIM:609220,Subtype of disorder,Malformation syndrome subtype,Bruck syndrome 2,Osteogenesis imperfecta with congenital joint contractures +GARD:0010024,Orphanet+OMIM,OMIM:277720,Subtype of disorder,Malformation syndrome subtype,"Whistling face syndrome, recessive form", +GARD:0010025,Orphanet,ORPHA:88632,Group of disorders,Category,Anterior segment developmental anomaly,Anterior segment dysgenesis +GARD:0010027,Orphanet,ORPHA:140,Disorder,Malformation syndrome,Campomelic dysplasia,Campomelic dwarfism +GARD:0010028,Orphanet,ORPHA:99960,Subtype of disorder,Clinical subtype,Benign recurrent intrahepatic cholestasis type 1,BRIC type 1|BRIC1 +GARD:0010029,Orphanet,ORPHA:99961,Subtype of disorder,Clinical subtype,Benign recurrent intrahepatic cholestasis type 2,BRIC type 2|BRIC2 +GARD:0010033,Orphanet+OMIM,OMIM:608542,Subtype of disorder,Disease subtype,"Aneurysm, intracranial berry, 2", +GARD:0010034,Orphanet,ORPHA:231013,Disorder,Disease,Congenital trigeminal anesthesia, +GARD:0010037,Orphanet,ORPHA:85110,Disorder,Disease,Familial encephalopathy with neuroserpin inclusion bodies,FENIB +GARD:0010039,Orphanet,ORPHA:79155,Disorder,Disease,Hydroxykynureninuria,Kynureninase deficiency|Xanthurenic aciduria +GARD:0010041,Orphanet,ORPHA:1200,Disorder,Malformation syndrome,Burn-McKeown syndrome,Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome +GARD:0010043,Orphanet+OMIM,OMIM:602083,Subtype of disorder,Clinical subtype,"Usher syndrome, type if", +GARD:0010045,Orphanet,ORPHA:79303,Disorder,Disease,Congenital bile acid synthesis defect type 2,BASD2|Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency +GARD:0010046,Orphanet,ORPHA:79095,Disorder,Disease,Congenital bile acid synthesis defect type 4,2-methylacyl-CoA racemase deficiency|AMACR deficiency|Alpha-methyl-acyl-CoA racemase deficiency|BASD4|Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome +GARD:0010047,Orphanet,ORPHA:32,Disorder,Disease,Glutathione synthetase deficiency,Pyroglutamicaciduria +GARD:0010048,Orphanet,ORPHA:79143,Disorder,Disease,Isolated congenital anonychia,Isolated anonychia +GARD:0010049,Orphanet,ORPHA:75377,Disorder,Disease,Central areolar choroidal dystrophy,Areolar atrophy of the macula|CACD|Central areolar choroidal sclerosis +GARD:0010050,Orphanet,ORPHA:41751,Disorder,Disease,Bietti crystalline dystrophy,BCD|Bietti crystalline corneoretinal dystrophy|Bietti crystalline retinopathy +GARD:0010051,Orphanet,ORPHA:69085,Disorder,Malformation syndrome,Limb-mammary syndrome,LMS +GARD:0010053,Orphanet,ORPHA:268835,Disorder,Morphological anomaly,Lipomyelomeningocele, +GARD:0010054,Orphanet,ORPHA:2725,Disorder,Malformation syndrome,Eye defects-arachnodactyly-cardiopathy syndrome,Al Gazali-Al Talabani syndrome|Al Gazali-Lytle syndrome +GARD:0010056,Orphanet,ORPHA:79113,Disorder,Malformation syndrome,Mandibulofacial dysostosis-microcephaly syndrome,"MFDM syndrome|Mandibulofacial dysostosis, Guion-Almeida type" +GARD:0010057,Orphanet,ORPHA:168454,Disorder,Disease,"Spondyloepimetaphyseal dysplasia, Geneviève type","SEMD, Geneviève type|SEMDG" +GARD:0010061,Orphanet,ORPHA:50809,Disorder,Malformation syndrome,Talo-patello-scaphoid osteolysis,Singh-Williams-McAlister syndrome +GARD:0010066,Orphanet,ORPHA:498485,Disorder,Malformation syndrome,Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome, +GARD:0010070,Orphanet,ORPHA:251639,Disorder,Disease,Subependymoma, +GARD:0010072,Orphanet,ORPHA:85182,Disorder,Disease,Diaphyseal medullary stenosis-bone malignancy syndrome,Bone dysplasia-medullary fibrosarcoma syndrome|Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome|Hardcastle syndrome +GARD:0010075,Orphanet+OMIM,OMIM:601230,Subtype of disorder,Disease subtype,"Dermatitis herpetiformis, familial",Dh +GARD:0010081,Orphanet,ORPHA:2475,Disorder,Malformation syndrome,White forelock with malformations, +GARD:0010082,Orphanet,ORPHA:85179,Disorder,Malformation syndrome,Infantile osteopetrosis with neuroaxonal dysplasia, +GARD:0010083,Orphanet,ORPHA:79124,Disorder,Disease,Hepatic veno-occlusive disease-immunodeficiency syndrome,VODI syndrome +GARD:0010084,Orphanet,ORPHA:141148,Disorder,Malformation syndrome,Hemifacial myohyperplasia, +GARD:0010088,Orphanet,ORPHA:77297,Disorder,Disease,Majeed syndrome,Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome +GARD:0010089,Orphanet,ORPHA:2886,Disorder,Malformation syndrome,TARP syndrome,Pierre Robin sequence-congenital heart defect-talipes syndrome|Pierre Robin syndrome-congenital heart defect-talipes syndrome|Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome +GARD:0010090,Orphanet+OMIM,OMIM:602196,Subtype of disorder,Malformation syndrome subtype,Pierre robin sequence with pectus excavatum and rib and scapular anomalies,"Skeletal dysplasia related to campomelic dysplasia|campomelic dysplasia, mild" +GARD:0010091,Orphanet,ORPHA:821,Disorder,Disease,Sotos syndrome,Cerebral gigantism +GARD:0010092,Orphanet,ORPHA:79230,Disorder,Disease,Hemochromatosis type 2,Juvenile hemochromatosis +GARD:0010093,Orphanet,ORPHA:225123,Disorder,Disease,Hemochromatosis type 3,TFR2-related hemochromatosis +GARD:0010094,Orphanet,ORPHA:139491,Disorder,Disease,Hemochromatosis type 4,Autosomal dominant hereditary hemochromatosis|Ferroportin disease|Hemochromatosis due to defect in ferroportin +GARD:0010095,Orphanet+OMIM,OMIM:602481,Subtype of disorder,Disease subtype,"Migraine, familial hemiplegic, 2",Mhp2 +GARD:0010096,Orphanet,ORPHA:523,Disorder,Disease,Hereditary leiomyomatosis and renal cell cancer,Familial leiomyomatosis and renal cell cancer|Familial leiomyomatosis cutis et uteri|Familial leiomyomatosis with renal carcinoma|Familial multiple cutaneous leiomyomas|HLRCC|Hereditary leiomyomatosis|Hereditary leiomyomatosis with renal carcinoma|Hereditary multiple cutaneous leiomyomas|MCUL|Multiple cutaneous and uterine leiomyomas|Reed syndrome +GARD:0010097,Orphanet+OMIM,OMIM:150700,Subtype of disorder,Clinical subtype,Leiomyoma of vulva and esophagus,"Leiomyomatosis, esophagogastric and vulvar" +GARD:0010099,Orphanet,ORPHA:33573,Disorder,Disease,Gamma-glutamyl transpeptidase deficiency,Gamma-glutamyl transferase deficiency|Glutathionuria +GARD:0010101,Orphanet,ORPHA:168443,Disorder,Disease,Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome, +GARD:0010103,Orphanet,ORPHA:79148,Disorder,Disease,Elastosis perforans serpiginosa, +GARD:0010104,Orphanet+OMIM,OMIM:177850,Subtype of disorder,Disease subtype,"Pseudoxanthoma elasticum, forme fruste", +GARD:0010106,Orphanet,ORPHA:178389,Disorder,Disease,Osteopetrosis-hypogammaglobulinemia syndrome,Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia|Autosomal recessive osteopetrosis type 7 +GARD:0010108,Orphanet+OMIM,OMIM:608931,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency","myasthenia, familial infantile, 1, formerly|cms id, formerly|Myasthenic syndrome, congenital, type id" +GARD:0010109,Orphanet,ORPHA:199,Disorder,Malformation syndrome,Cornelia de Lange syndrome,Brachmann-de Lange syndrome +GARD:0010111,Orphanet+OMIM,OMIM:161800,Subtype of disorder,Disease subtype,Nemaline myopathy 3, +GARD:0010116,Orphanet,ORPHA:91132,Disorder,Disease,Ichthyosis-hypotrichosis syndrome,Hypotrichosis-congenital ichthyosis syndrome|IFAH syndrome|IHS|Ichthyosis-follicular atrophoderma-hypotrichosis syndrome|Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome +GARD:0010118,Orphanet,ORPHA:75382,Disorder,Malformation syndrome,Oguchi disease,"Congenital stationary night blindness, Oguchi type|Oguchi syndrome" +GARD:0010119,Orphanet+OMIM,OMIM:304030,Subtype of disorder,Disease subtype,"Cone dystrophy, x-linked, with tapetal-like sheen", +GARD:0010120,Orphanet+OMIM,OMIM:153840,Subtype of disorder,Disease subtype,"Macular dystrophy, vitelliform, 1","Macular dystrophy, atypical vitelliform" +GARD:0010121,Orphanet,ORPHA:75858,Disorder,Disease,MORM syndrome,Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome +GARD:0010123,Orphanet,ORPHA:75373,Disorder,Disease,Progressive bifocal chorioretinal atrophy,CRAPB|PBCRA +GARD:0010126,Orphanet,ORPHA:79256,Subtype of disorder,Clinical subtype,GM1 gangliosidosis type 2,Juvenile GM1 gangliosidosis|Late-infantile GM1 gangliosidosis +GARD:0010127,Orphanet,ORPHA:325448,Subtype of disorder,Clinical subtype,Leydig cell hypoplasia due to LHB deficiency,"46,XY DSD due to LHB deficiency|46,XY DSD due to luteinizing hormone subunit beta deficiency|46,XY disorder of sex development due to LHB deficiency|46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency|Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" +GARD:0010128,Orphanet,ORPHA:52901,Disorder,Disease,Isolated follicle stimulating hormone deficiency,Isolated FSH deficiency +GARD:0010129,Orphanet,ORPHA:90674,Disorder,Disease,Isolated thyroid-stimulating hormone deficiency,Isolated TSH deficiency|Isolated thyrotropin deficiency +GARD:0010130,Orphanet,ORPHA:48652,Disorder,Malformation syndrome,Monosomy 22q13.3,22q13.3 deletion|Phelan-McDermid syndrome +GARD:0010131,Orphanet,ORPHA:90117,Disorder,Disease,"Hereditary motor and sensory neuropathy, Okinawa type","HMSNP|Hereditary motor and sensory neuropathy, proximal type" +GARD:0010132,Orphanet,ORPHA:99953,Disorder,Disease,Charcot-Marie-Tooth disease type 4G,"CMT4G|HMSNR|Hereditary motor and sensory neuropathy, Russe Type" +GARD:0010133,Orphanet,ORPHA:139552,Disorder,Disease,"Distal hereditary motor neuropathy, Jerash type",Autosomal recessive distal spinal muscular atrophy type 2|dHMNJ +GARD:0010138,Orphanet,ORPHA:98805,Disorder,Disease,"Primary dystonia, DYT4 type",DYT4|Hereditary whispering dysphonia +GARD:0010140,Orphanet,ORPHA:97297,Disorder,Malformation syndrome,Bohring-Opitz syndrome,BOS syndrome|Bohring syndrome|C-like syndrome|Oberklaid-Danks syndrome|Opitz trigonocephaly-like syndrome +GARD:0010142,Orphanet,ORPHA:216804,Subtype of disorder,Clinical subtype,Osteogenesis imperfecta type 2,Lethal osteogenesis imperfecta|OI type 2 +GARD:0010144,Orphanet,ORPHA:166265,Subtype of disorder,Clinical subtype,Dentinogenesis imperfecta type 3,"Dentinogenesis imperfecta, Shields type 3" +GARD:0010145,Orphanet,ORPHA:1713,Disorder,Malformation syndrome,17p11.2 microduplication syndrome,Potocki-Lupski syndrome|Trisomy 17p11.2 +GARD:0010147,Orphanet,ORPHA:107,Disorder,Malformation syndrome,BOR syndrome,Branchiootorenal syndrome +GARD:0010148,Orphanet,ORPHA:52429,Disorder,Malformation syndrome,Branchiootic syndrome, +GARD:0010149,Orphanet,ORPHA:1801,Disorder,Malformation syndrome,Kyphomelic dysplasia, +GARD:0010151,Orphanet+OMIM,OMIM:612952,Subtype of disorder,Disease subtype,Aicardi-goutieres syndrome 5, +GARD:0010152,Orphanet+OMIM,OMIM:610915,Subtype of disorder,Clinical subtype,"Osteogenesis imperfecta, type viii","Oi, type viii" +GARD:0010153,Orphanet,ORPHA:31837,Disorder,Disease,Pulmonary venoocclusive disease, +GARD:0010156,Orphanet,ORPHA:264688,Disorder,Disease,Congenital chylothorax, +GARD:0010163,Orphanet,ORPHA:307766,Disorder,Disease,Curly hair-acral keratoderma-caries syndrome,CHAC syndrome|CHACS +GARD:0010167,Orphanet+OMIM,OMIM:608091,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 2,Cerebellooculorenal syndrome 2 +GARD:0010168,Orphanet,ORPHA:220493,Disorder,Malformation syndrome,Joubert syndrome with ocular defect,JS-O|Joubert syndrome with retinopathy +GARD:0010169,Orphanet,ORPHA:220497,Disorder,Malformation syndrome,Joubert syndrome with renal defect,JS-R +GARD:0010173,Orphanet,ORPHA:83451,Disorder,Disease,Florid cemento-osseous dysplasia,Florid osseous dysplasia|Focal cemento-osseous dysplasia +GARD:0010175,Orphanet,ORPHA:99978,Disorder,Disease,Klatskin tumor,Hilar CCA|Hilar cholangiocarcinoma +GARD:0010177,Orphanet,ORPHA:521219,Disorder,Clinical syndrome,Mirizzi syndrome,Extrinsic biliary compression syndrome +GARD:0010179,Orphanet,ORPHA:79493,Disorder,Disease,Brooke-Spiegler syndrome,CYLD cutaneous syndrome +GARD:0010181,Orphanet,ORPHA:293202,Disorder,Disease,Epithelioid sarcoma, +GARD:0010184,Orphanet,ORPHA:398088,Disorder,Disease,Hereditary cryohydrocytosis with normal stomatin, +GARD:0010188,Orphanet+OMIM,OMIM:300652,Subtype of disorder,Disease subtype,"Angioma serpiginosum, x-linked", +GARD:0010189,Orphanet+OMIM,OMIM:106050,Subtype of disorder,Disease subtype,"Angioma serpiginosum, autosomal dominant", +GARD:0010190,Orphanet,ORPHA:268994,Subtype of disorder,Clinical subtype,Isolated focal cortical dysplasia type II,"Cortical dysplasia, Taylor type|FCD type II|Isolated focal cortical dysplasia type 2" +GARD:0010193,Orphanet,ORPHA:86884,Disorder,Disease,Subcutaneous panniculitis-like T-cell lymphoma,SPTCL|Subcutaneous panniculitic T-cell lymphoma +GARD:0010199,Orphanet,ORPHA:98890,Disorder,Disease,Early-onset X-linked optic atrophy,Non-Leber type optic atrophy with early-onset|OPA2|Optic atrophy type 2 +GARD:0010200,Orphanet+OMIM,OMIM:258500,Subtype of disorder,Disease subtype,Optic atrophy 6, +GARD:0010201,Orphanet+OMIM,OMIM:610708,Subtype of disorder,Disease subtype,Optic atrophy 5, +GARD:0010202,Orphanet,ORPHA:1001,Disorder,Malformation syndrome,2q37 microdeletion syndrome,Albright hereditary osteodystrophy type 3|Albright hereditary osteodystrophy-like syndrome|Brachydactyly-intellectual disability syndrome|Del(2)(q37)|Deletion 2q37|Monosomy 2q37qter +GARD:0010203,Orphanet,ORPHA:67036,Disorder,Disease,Autosomal dominant optic atrophy and cataract,"Autosomal dominant optic atrophy type 3|OPA3, autosomal dominant" +GARD:0010204,Orphanet+OMIM,OMIM:615983,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 5, +GARD:0010205,Orphanet+OMIM,OMIM:605231,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 6, +GARD:0010206,Orphanet+OMIM,OMIM:615984,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 7, +GARD:0010207,Orphanet+OMIM,OMIM:615985,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 8, +GARD:0010208,Orphanet+OMIM,OMIM:615986,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 9, +GARD:0010209,Orphanet+OMIM,OMIM:615987,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 10, +GARD:0010210,Orphanet+OMIM,OMIM:615988,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 11, +GARD:0010211,Orphanet+OMIM,OMIM:615989,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 12, +GARD:0010212,Orphanet+OMIM,OMIM:269700,Subtype of disorder,Disease subtype,"Lipodystrophy, congenital generalized, type 2","lipoatrophic diabetes, congenital|brunzell syndrome, bscl2-related|seip syndrome|lipodystrophy, berardinelli-seip congenital, type 2|Berardinelli-seip congenital lipodystrophy, type 2|berardinelli syndrome|lipodystrophy, total, and acromegaloid gigantism" +GARD:0010213,Orphanet,ORPHA:572361,Subtype of disorder,Clinical subtype,Blepharophimosis-ptosis-epicanthus inversus syndrome type 2,BPES type 2|Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure +GARD:0010214,Orphanet,ORPHA:247598,Disorder,Disease,Neonatal intrahepatic cholestasis due to citrin deficiency,NICCD|Neonatal intrahepatic cholestasis caused by citrin deficiency +GARD:0010215,Orphanet,ORPHA:247585,Disorder,Disease,Citrullinemia type II,Adult-onset citrin deficiency|Adult-onset citrullinemia type 2|Adult-onset citrullinemia type II|CTLN2|Citrullinemia type 2 +GARD:0010216,Orphanet,ORPHA:443162,Disorder,Malformation syndrome,NDE1-related microhydranencephaly,MHAC +GARD:0010220,Orphanet,ORPHA:137678,Disorder,Disease,Spondyloepiphyseal dysplasia with metatarsal shortening,"Czech dysplasia, metatarsal type|SED with metatarsal shortening" +GARD:0010221,Orphanet,ORPHA:93111,Subtype of disorder,Clinical subtype,HNF1B-related autosomal dominant tubulointerstitial kidney disease,ADTKD-HNF1B|HNF1B-MODY|HNF1B-related nephropathy|MODY5|Maturity-onset diabetes of the young type 5|RCAD syndrome|Renal cysts and diabetes syndrome|Renal dysfunction-early-onset diabetes syndrome +GARD:0010223,Orphanet,ORPHA:79159,Disorder,Disease,Isobutyryl-CoA dehydrogenase deficiency,Isobutyric aciduria +GARD:0010224,Orphanet,ORPHA:73263,Disorder,Disease,Zygomycosis,Mucormycosis +GARD:0010225,Orphanet,ORPHA:247709,Subtype of disorder,Clinical subtype,Multiple endocrine neoplasia type 2B,MEN2B|Multiple endocrine neoplasia type 3|Wagenmann-Froboese syndrome +GARD:0010226,Orphanet,ORPHA:263508,Disorder,Disease,COG1-CDG,CDG syndrome type IIg|CDG-IIg|CDG2G|Carbohydrate deficient glycoprotein syndrome type IIg|Congenital disorder of glycosylation type 2g|Congenital disorder of glycosylation type IIg +GARD:0010229,Orphanet,ORPHA:266,Disorder,Disease,Autosomal dominant limb-girdle muscular dystrophy type 1A,LGMD1A|Limb-girdle muscular dystrophy due to myotilin deficiency +GARD:0010230,Orphanet+OMIM,OMIM:181350,Subtype of disorder,Etiological subtype,"Emery-dreifuss muscular dystrophy 2, autosomal dominant","emery-dreifuss muscular dystrophy, autosomal dominant|muscular dystrophy, limb-girdle, type 1b, formerly|cardiomyopathy, dilated, with quadriceps myopathy|scapuloilioperoneal atrophy with cardiopathy|hauptmann-thannhauser muscular dystrophy|Emd2|muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant|muscular dystrophy, proximal, type 1b, formerly" +GARD:0010237,Orphanet,ORPHA:65284,Disorder,Disease,Biotin-thiamine-responsive basal ganglia disease,BBGD|BTBGD|Biotin-responsive basal ganglia disease +GARD:0010238,Orphanet,ORPHA:275534,Disorder,Disease,Myostatin-related muscle hypertrophy, +GARD:0010239,Orphanet,ORPHA:168569,Disorder,Malformation syndrome,H syndrome, +GARD:0010241,Orphanet+OMIM,OMIM:610629,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 3, +GARD:0010244,Orphanet,ORPHA:535453,Subtype of disorder,Etiological subtype,Familial lipase maturation factor 1 deficiency,Familial LMF1 deficiency +GARD:0010247,Orphanet,ORPHA:870,Disorder,Malformation syndrome,Down syndrome,Trisomy 21 +GARD:0010248,Orphanet,ORPHA:180772,Group of disorders,Category,Rare disease with autism, +GARD:0010252,Orphanet,ORPHA:289390,Disorder,Disease,Primary Sjögren syndrome,Primary Sjögren-Gougerot syndrome +GARD:0010263,Orphanet,ORPHA:99927,Disorder,Disease,Hydatidiform mole,Molar pregnancy +GARD:0010266,Orphanet,ORPHA:85458,Disorder,Disease,Hereditary cerebral hemorrhage with amyloidosis,HCHWA +GARD:0010267,Orphanet,ORPHA:309147,Disorder,Disease,Hyper-beta-alaninemia,Hyperalaninemia +GARD:0010277,Orphanet,ORPHA:2952,Disorder,Malformation syndrome,"Adducted thumbs-arthrogryposis syndrome, Christian type", +GARD:0010280,Orphanet,ORPHA:2345,Disorder,Malformation syndrome,Isolated Klippel-Feil syndrome,Congenital cervical vertebral fusion|Congenital fused cervical segments|Klippel-Feil malformation|Klippel-Feil sequence +GARD:0010281,Orphanet+OMIM,OMIM:180500,Subtype of disorder,Malformation syndrome subtype,"Axenfeld-rieger syndrome, type 1","rgs|Rieger syndrome, type 1|rieg" +GARD:0010283,Orphanet,ORPHA:35107,Disorder,Disease,Desmosterolosis, +GARD:0010287,Orphanet,ORPHA:1945,Disorder,Disease,Rolandic epilepsy,BECRS|BECTS|BRE|Benign epilepsy of childhood with centrotemporal spikes|Benign familial epilepsy of childhood with rolandic spikes|Benign rolandic epilepsy|Centrotemporal epilepsy +GARD:0010288,Orphanet,ORPHA:98908,Disorder,Disease,Neutral lipid storage myopathy,NLSDM|Neutral lipid storage disease with myopathy without ichthyosis +GARD:0010290,Orphanet,ORPHA:166277,Disorder,Malformation syndrome,Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia,Suarez-Stickler syndrome +GARD:0010291,Orphanet,ORPHA:2612,Disorder,Disease,Linear nevus sebaceus syndrome,Nevus sebaceus of Jadassohn|Nevus sebaceus syndrome|Organoid nevus syndrome|Schimmelpenning syndrome|Solomon syndrome +GARD:0010294,Orphanet,ORPHA:139485,Disorder,Disease,Autosomal recessive ataxia due to ubiquinone deficiency,ARCA2|Autosomal recessive ataxia due to coenzyme Q10 deficiency|Autosomal recessive cerebellar ataxia type 2|Autosomal recessive spinocerebellar ataxia type 9|SCAR9 +GARD:0010295,Orphanet,ORPHA:140952,Disorder,Malformation syndrome,Syndactyly-telecanthus-anogenital and renal malformations syndrome,STAR syndrome +GARD:0010296,Orphanet,ORPHA:199318,Disorder,Malformation syndrome,15q13.3 microdeletion syndrome,Del(15)(q13.3)|Monosomy 15q13.3 +GARD:0010297,Orphanet,ORPHA:1802,Disorder,Malformation syndrome,Ghosal hematodiaphyseal dysplasia,Diaphyseal dysplasia-anemia syndrome|Ghosal syndrome +GARD:0010299,Orphanet,ORPHA:567,Disorder,Malformation syndrome,22q11.2 deletion syndrome,22q11DS|CATCH 22|Cayler cardiofacial syndrome|Conotruncal anomaly face syndrome|DiGeorge sequence|DiGeorge syndrome|Microdeletion 22q11.2|Monosomy 22q11|Sedlackova syndrome|Shprintzen syndrome|Takao syndrome|Velocardiofacial syndrome +GARD:0010300,Orphanet,ORPHA:139450,Disorder,Malformation syndrome,Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,Balikova-Vermeesch syndrome +GARD:0010301,Orphanet,ORPHA:139455,Disorder,Disease,Autosomal recessive bestrophinopathy,"Retinopathy, Burgess-Black type" +GARD:0010302,Orphanet,ORPHA:139466,Disorder,Malformation syndrome,SERKAL syndrome,"Sex reversion-kidneys, adrenal and lung dysgenesis syndrome" +GARD:0010303,Orphanet,ORPHA:137911,Disorder,Malformation syndrome,Autism-facial port-wine stain syndrome, +GARD:0010304,Orphanet,ORPHA:251076,Disorder,Malformation syndrome,8p23.1 duplication syndrome,Dup(8)(p23.1p23.1)|Trisomy 8p23.1 +GARD:0010306,Orphanet,ORPHA:93606,Disorder,Disease,Nephrogenic syndrome of inappropriate antidiuresis,NSIAD +GARD:0010307,Orphanet,ORPHA:137,Group of disorders,Category,Congenital disorder of glycosylation,CDG|Carbohydrate deficient glycoprotein syndrome +GARD:0010311,Orphanet,ORPHA:70592,Disorder,Disease,Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency,IRAK4 deficiency +GARD:0010312,Orphanet,ORPHA:85146,Disorder,Disease,"Neurogenic scapuloperoneal syndrome, Kaeser type",Kaeser syndrome|Stark-Kaeser syndrome +GARD:0010313,Orphanet,ORPHA:437572,Disorder,Disease,MYH7-related late-onset scapuloperoneal muscular dystrophy,MYH7-related late-onset SPMD|MYH7-related late-onset scapuloperoneal syndrome +GARD:0010314,Orphanet,ORPHA:431255,Disorder,Disease,Scapuloperoneal spinal muscular atrophy,"Neurogenic scapuloperoneal amyotrophy, New England type|SPSMA|Scapuloperoneal neuronopathy" +GARD:0010316,Orphanet,ORPHA:98905,Subtype of disorder,Clinical subtype,Congenital multicore myopathy with external ophthalmoplegia, +GARD:0010317,Orphanet,ORPHA:280671,Disorder,Disease,Megaconial congenital muscular dystrophy,Congenital megaconial myopathy|Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|Congenital muscular dystrophy with mitochondrial structural abnormalities +GARD:0010319,Orphanet,ORPHA:2964,Disorder,Malformation syndrome,Autosomal dominant prognathism, +GARD:0010320,Orphanet+OMIM,OMIM:608471,Subtype of disorder,Disease subtype,"Corneal dystrophy, lattice type iiia","Lattice corneal dystrophy, type iiia" +GARD:0010321,Orphanet,ORPHA:67046,Disorder,Disease,3-methylglutaconic aciduria type 1,3-methylglutaconyl-CoA hydratase deficiency|3MG-CoA hydratase deficiency|MGA1 +GARD:0010322,Orphanet,ORPHA:79157,Disorder,Disease,2-methylbutyryl-CoA dehydrogenase deficiency,2-methylbutyric aciduria|Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency|SBCAD deficiency|Short/branched-chain acyl-coA dehydrogenase deficiency +GARD:0010323,Orphanet,ORPHA:35704,Disorder,Disease,L-Arginine:glycine amidinotransferase deficiency,AGAT deficiency +GARD:0010324,Orphanet,ORPHA:79253,Subtype of disorder,Clinical subtype,Mild phenylketonuria,Mild PKU|Variant PKU|Variant phenylketonuria|mPKU +GARD:0010327,Orphanet,ORPHA:431361,Disorder,Disease,Progressive encephalopathy with leukodystrophy due to DECR deficiency,"2,4-dienoyl-CoA reductase deficiency|DECR deficiency with hyperlysinemia" +GARD:0010332,Orphanet,ORPHA:69723,Disorder,Disease,Tyrosinemia type 3,Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency|Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency|Tyrosinemia due to HPD deficiency|Tyrosinemia type III +GARD:0010333,Orphanet,ORPHA:251359,Disorder,Disease,Sickle cell-beta-thalassemia disease syndrome,HbS-beta-thalassemia syndrome +GARD:0010335,Orphanet,ORPHA:579,Disorder,Disease,Mucopolysaccharidosis type 1,Alpha-L-iduronidase deficiency|MPS1|MPSI|Mucopolysaccharidosis type I +GARD:0010339,Orphanet,ORPHA:331206,Disorder,Disease,Severe combined immunodeficiency due to complete RAG1/2 deficiency,SCID due to complete RAG1/2 deficiency +GARD:0010341,Orphanet,ORPHA:83473,Disorder,Malformation syndrome,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,MPPH syndrome +GARD:0010342,Orphanet,ORPHA:67048,Disorder,Disease,3-methylglutaconic aciduria type 4,MGA4 +GARD:0010346,Orphanet,ORPHA:100026,Subtype of disorder,Clinical subtype,Gamma-heavy chain disease,Franklin disease|Gamma-HCD +GARD:0010351,Orphanet,ORPHA:98758,Disorder,Disease,Spinocerebellar ataxia type 6,SCA6 +GARD:0010352,Orphanet,ORPHA:71290,Disorder,Disease,Familial platelet disorder with associated myeloid malignancy,FPD/AML|FPDMM|FPS/AML|Familial platelet disorder with predisposition to acute myelogenous leukemia|Familial platelet disorder with predisposition to myeloid malignancy|Familial platelet disorder with propensity to acute myeloid leukemia|Familial thrombocytopenia with propensity to acute myelogenous leukemia +GARD:0010353,Orphanet,ORPHA:738,Group of disorders,Clinical group,Porphyria, +GARD:0010354,Orphanet,ORPHA:496693,Disorder,Malformation syndrome,Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome,Gershoni-Baruch syndrome +GARD:0010355,Orphanet,ORPHA:91498,Disorder,Disease,Familial congenital palsy of trochlear nerve, +GARD:0010358,Orphanet,ORPHA:166108,Disorder,Disease,"Intellectual disability, Birk-Barel type",Intellectual disability-hypotonia-facial dysmorphism syndrome +GARD:0010359,Orphanet+OMIM,OMIM:168100,Subtype of disorder,Disease subtype,"Paralysis agitans, juvenile, of hunt","Parkinson disease, juvenile, of hunt" +GARD:0010360,Orphanet,ORPHA:251038,Disorder,Malformation syndrome,3q29 microduplication syndrome,Trisomy 3q29 +GARD:0010361,Orphanet+OMIM,OMIM:611875,Subtype of disorder,Disease subtype,Brugada syndrome 3, +GARD:0010362,Orphanet+OMIM,OMIM:611876,Subtype of disorder,Disease subtype,Brugada syndrome 4, +GARD:0010363,Orphanet,ORPHA:79153,Disorder,Disease,Idiopathic trachyonychia, +GARD:0010364,Orphanet+OMIM,OMIM:612347,Subtype of disorder,Disease subtype,Jervell and lange-nielsen syndrome 2, +GARD:0010365,Orphanet,ORPHA:70594,Disorder,Disease,Dopa-responsive dystonia due to sepiapterin reductase deficiency,Autosomal recessive sepiapterin reductase-deficient DRD|DRD due to SRD|SPR deficiency|Sepiapterin reductase deficiency +GARD:0010366,Orphanet,ORPHA:3339,Disorder,Malformation syndrome,Toriello-Lacassie-Droste syndrome,Aplasia cutis congenita-epibulbar dermoids syndrome|Oculoectodermal syndrome +GARD:0010367,Orphanet,ORPHA:140936,Disorder,Malformation syndrome,Lelis syndrome,Ectodermal dysplasia-acanthosis nigricans syndrome +GARD:0010372,Orphanet,ORPHA:103909,Disorder,Disease,Trehalase deficiency,Isolated trehalose intolerance +GARD:0010373,Orphanet+OMIM,OMIM:612099,Subtype of disorder,Clinical subtype,"Trichoepithelioma, multiple familial, 2", +GARD:0010376,Orphanet+OMIM,OMIM:600105,Subtype of disorder,Disease subtype,Retinitis pigmentosa 12,Retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium|rp with or without preserved paraarteriole retinal pigment epithelium|rp with or without pprpe +GARD:0010377,Orphanet+OMIM,OMIM:312612,Subtype of disorder,Disease subtype,Retinitis pigmentosa 6, +GARD:0010378,Orphanet+OMIM,OMIM:612165,Subtype of disorder,Disease subtype,Retinitis pigmentosa 29, +GARD:0010379,Orphanet+OMIM,OMIM:612095,Subtype of disorder,Disease subtype,Retinitis pigmentosa 41,"Retinal degeneration, autosomal recessive, prominin-related" +GARD:0010380,Orphanet+OMIM,OMIM:312600,Subtype of disorder,Disease subtype,Retinitis pigmentosa 2, +GARD:0010381,Orphanet+OMIM,OMIM:300029,Subtype of disorder,Disease subtype,Retinitis pigmentosa 3,"cone-rod degeneration, x-linked|choroidoretinal degeneration with retinal reflex in heterozygous women|Retinitis pigmentosa 15" +GARD:0010382,Orphanet+OMIM,OMIM:180104,Subtype of disorder,Disease subtype,Retinitis pigmentosa 9, +GARD:0010383,Orphanet+OMIM,OMIM:600138,Subtype of disorder,Disease subtype,Retinitis pigmentosa 11, +GARD:0010384,Orphanet+OMIM,OMIM:602772,Subtype of disorder,Disease subtype,Retinitis pigmentosa 25, +GARD:0010385,Orphanet+OMIM,OMIM:600132,Subtype of disorder,Disease subtype,Retinitis pigmentosa 14, +GARD:0010386,Orphanet+OMIM,OMIM:608133,Subtype of disorder,Disease subtype,Retinitis pigmentosa 7, +GARD:0010387,Orphanet+OMIM,OMIM:600852,Subtype of disorder,Disease subtype,Retinitis pigmentosa 17, +GARD:0010388,Orphanet+OMIM,OMIM:600059,Subtype of disorder,Disease subtype,Retinitis pigmentosa 13, +GARD:0010389,Orphanet+OMIM,OMIM:300155,Subtype of disorder,Disease subtype,Retinitis pigmentosa 24, +GARD:0010390,Orphanet+OMIM,OMIM:300605,Subtype of disorder,Disease subtype,Retinitis pigmentosa 34, +GARD:0010391,Orphanet+OMIM,OMIM:300424,Subtype of disorder,Disease subtype,Retinitis pigmentosa 23, +GARD:0010392,Orphanet+OMIM,OMIM:601414,Subtype of disorder,Disease subtype,Retinitis pigmentosa 18, +GARD:0010393,Orphanet+OMIM,OMIM:602594,Subtype of disorder,Disease subtype,Retinitis pigmentosa 22, +GARD:0010394,Orphanet+OMIM,OMIM:606068,Subtype of disorder,Disease subtype,Retinitis pigmentosa 28, +GARD:0010395,Orphanet+OMIM,OMIM:609913,Subtype of disorder,Disease subtype,Retinitis pigmentosa 32, +GARD:0010396,Orphanet+OMIM,OMIM:609923,Subtype of disorder,Disease subtype,Retinitis pigmentosa 31, +GARD:0010397,Orphanet+OMIM,OMIM:608380,Subtype of disorder,Disease subtype,Retinitis pigmentosa 26, +GARD:0010398,Orphanet+OMIM,OMIM:601718,Subtype of disorder,Disease subtype,Retinitis pigmentosa 19, +GARD:0010400,Orphanet+OMIM,OMIM:610359,Subtype of disorder,Disease subtype,Retinitis pigmentosa 33, +GARD:0010401,Orphanet+OMIM,OMIM:607921,Subtype of disorder,Disease subtype,Retinitis pigmentosa 30, +GARD:0010402,Orphanet+OMIM,OMIM:610282,Subtype of disorder,Disease subtype,Retinitis pigmentosa 35, +GARD:0010403,Orphanet+OMIM,OMIM:610599,Subtype of disorder,Disease subtype,Retinitis pigmentosa 36, +GARD:0010404,Orphanet+OMIM,OMIM:613794,Subtype of disorder,Disease subtype,Retinitis pigmentosa 20, +GARD:0010405,Orphanet+OMIM,OMIM:613731,Subtype of disorder,Disease subtype,Retinitis pigmentosa 4,"Retinitis pigmentosa, rhodopsin-related" +GARD:0010407,Orphanet,ORPHA:293987,Disorder,Disease,Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome,ROHHAD|ROHHADNET|Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome +GARD:0010411,Orphanet,ORPHA:370396,Disorder,Disease,Small cell carcinoma of the ovary,SCCO|Small cell ovarian carcinoma +GARD:0010413,Orphanet,ORPHA:730,Disorder,Disease,Autosomal dominant polycystic kidney disease,ADPKD +GARD:0010414,Orphanet,ORPHA:329984,Subtype of disorder,Clinical subtype,Goblet cell carcinoma,GCC|Goblet cell adenocarcinoid|Goblet cell carcinoid|Goblet cell tumor +GARD:0010416,Orphanet,ORPHA:391665,Disorder,Disease,Homozygous familial hypercholesterolemia,HoFH +GARD:0010417,Orphanet,ORPHA:465508,Disorder,Disease,Symptomatic form of hemochromatosis type 1,Symptomatic form of HFE-related hereditary hemochromatosis|Symptomatic form of classic hemochromatosis +GARD:0010418,Orphanet,ORPHA:448,Group of disorders,Clinical group,Hemophilia, +GARD:0010419,Orphanet,ORPHA:206647,Group of disorders,Clinical group,Myotonic dystrophy, +GARD:0010423,Orphanet,ORPHA:35656,Group of disorders,Clinical group,Coenzyme Q10 deficiency,CoQ10 deficiency +GARD:0010424,Orphanet,ORPHA:199354,Disorder,Disease,Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy,CARASIL|Maeda syndrome +GARD:0010427,Orphanet,ORPHA:181,Subtype of disorder,Etiological subtype,X-linked hypohidrotic ectodermal dysplasia,Christ-Siemens-Touraine syndrome|X-linked anhidrotic ectodermal dysplasia|XHED +GARD:0010428,Orphanet,ORPHA:441,Disorder,Disease,Pure autonomic failure,Bradbury-Eggleston syndrome|Idiopathic orthostatic hypotension|PAF|Pure dysautonomia|Pure idiopatic dysautonomia +GARD:0010429,Orphanet,ORPHA:93304,Disorder,Malformation syndrome,Autosomal dominant brachyolmia,Brachyolmia type 3 +GARD:0010430,Orphanet,ORPHA:33069,Disorder,Disease,Dravet syndrome,SMEI|Severe myoclonic epilepsy of infancy|Severe myoclonus epilepsy of infancy +GARD:0010432,Orphanet+OMIM,OMIM:600919,Subtype of disorder,Disease subtype,"Cardiac arrhythmia, ankyrin-b-related",Ankyrin-b syndrome +GARD:0010433,Orphanet+OMIM,OMIM:613695,Subtype of disorder,Disease subtype,Long qt syndrome 5, +GARD:0010434,Orphanet+OMIM,OMIM:613693,Subtype of disorder,Disease subtype,Long qt syndrome 6, +GARD:0010435,Orphanet+OMIM,OMIM:611818,Subtype of disorder,Disease subtype,Long qt syndrome 9, +GARD:0010436,Orphanet+OMIM,OMIM:611819,Subtype of disorder,Disease subtype,Long qt syndrome 10, +GARD:0010437,Orphanet+OMIM,OMIM:611820,Subtype of disorder,Disease subtype,Long qt syndrome 11, +GARD:0010443,Orphanet,ORPHA:477738,Disorder,Disease,Pediatric multiple sclerosis, +GARD:0010445,Orphanet,ORPHA:101028,Disorder,Disease,Transaldolase deficiency,TALDO deficiency +GARD:0010453,Orphanet,ORPHA:178509,Disorder,Disease,Perry syndrome,Parkinsonism with alveolar hypoventilation and mental depression +GARD:0010457,Orphanet,ORPHA:99885,Disorder,Disease,Isolated permanent neonatal diabetes mellitus,Isolated PNDM|Monogenic diabetes of infancy +GARD:0010460,Orphanet,ORPHA:438274,Disorder,Disease,GCGR-related hyperglucagonemia,Mahvash disease +GARD:0010467,Orphanet,ORPHA:464321,Disorder,Disease,Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome,Cutaneovisceral angiomatosis-thrombocytopenia syndrome|MLT|Multifocal lymphangioendotheliomatosis with thrombocytopenia +GARD:0010469,Orphanet,ORPHA:98759,Disorder,Disease,Spinocerebellar ataxia type 17,HDL4|Huntington disease-like 4|SCA17 +GARD:0010471,Orphanet,ORPHA:34514,Disorder,Disease,Telethonin-related limb-girdle muscular dystrophy R7,Autosomal recessive limb-girdle muscular dystrophy type 2G|LGMD due to telethonin deficiency|LGMD type 2G|LGMD2G|Limb-girdle muscular dystrophy due to telethonin deficiency|Limb-girdle muscular dystrophy type 2G|Telethonin-related LGMD R7 +GARD:0010472,Orphanet,ORPHA:79314,Disorder,Disease,L-2-hydroxyglutaric aciduria,L-2-HGA|L-2-hydroxyglutaric acidemia +GARD:0010474,Orphanet,ORPHA:98761,Disorder,Disease,Spinocerebellar ataxia type 10,SCA10 +GARD:0010475,Orphanet,ORPHA:98767,Disorder,Disease,Spinocerebellar ataxia type 11,SCA11 +GARD:0010476,Orphanet,ORPHA:98762,Disorder,Disease,Spinocerebellar ataxia type 12,SCA12 +GARD:0010477,Orphanet,ORPHA:98769,Disorder,Disease,Spinocerebellar ataxia type 15/16,SCA15/16 +GARD:0010480,Orphanet,ORPHA:208513,Disorder,Disease,Spinocerebellar ataxia type 29,Congenital nonprogressive spinocerebellar ataxia|SCA29 +GARD:0010484,Orphanet,ORPHA:238455,Disorder,Disease,Infantile dystonia-parkinsonism,IPD|PKDYS +GARD:0010486,Orphanet,ORPHA:54595,Disorder,Disease,Craniopharyngioma, +GARD:0010487,Orphanet+OMIM,OMIM:611755,Subtype of disorder,Disease subtype,Leber congenital amaurosis 10, +GARD:0010488,Orphanet+OMIM,OMIM:613837,Subtype of disorder,Disease subtype,Leber congenital amaurosis 11, +GARD:0010489,Orphanet+OMIM,OMIM:610612,Subtype of disorder,Disease subtype,Leber congenital amaurosis 12, +GARD:0010490,Orphanet+OMIM,OMIM:613826,Subtype of disorder,Disease subtype,Leber congenital amaurosis 6, +GARD:0010491,Orphanet,ORPHA:86897,Disorder,Disease,Langerhans cell sarcoma, +GARD:0010493,Orphanet,ORPHA:86873,Disorder,Disease,Aggressive NK-cell leukemia,ANKCL|Aggressive NK-cell lymphoma|NK-cell LGL leukemia|NK-cell large granular lymphocyte leukemia +GARD:0010494,Orphanet,ORPHA:70588,Disorder,Disease,Meconium aspiration syndrome, +GARD:0010496,Orphanet+OMIM,OMIM:612577,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 11, +GARD:0010498,Orphanet+OMIM,OMIM:611895,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 9, +GARD:0010499,Orphanet+OMIM,OMIM:608627,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 8, +GARD:0010500,Orphanet+OMIM,OMIM:608031,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 7, +GARD:0010501,Orphanet+OMIM,OMIM:606640,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 3, +GARD:0010502,Orphanet,ORPHA:357043,Disorder,Disease,Amyotrophic lateral sclerosis type 4,ALS4|Distal hereditary motor neuropathy with upper motor neuron signs|dHMN with upper motor neuron signs +GARD:0010504,Orphanet,ORPHA:63260,Disorder,Morphological anomaly,Craniorachischisis, +GARD:0010505,Orphanet,ORPHA:98562,Group of disorders,Category,Cryptophthalmia, +GARD:0010506,Orphanet,ORPHA:63259,Disorder,Morphological anomaly,Iniencephaly, +GARD:0010508,Orphanet,ORPHA:89938,Subtype of disorder,Clinical subtype,Bartter syndrome type 4,Bartter syndrome type IV|Bartter syndrome with sensorineural deafness|Bartter syndrome with sensorineural hearing loss +GARD:0010509,Orphanet,ORPHA:79087,Disorder,Disease,Acquired partial lipodystrophy,Barraquer-Simons syndrome|Progressive cephalothoracic lipodystrophy +GARD:0010510,Orphanet,ORPHA:248111,Disorder,Disease,Juvenile Huntington disease,JHD|Juvenile Huntington chorea +GARD:0010511,Orphanet+OMIM,OMIM:136900,Subtype of disorder,Disease subtype,Sorsby fundus dystrophy,"macular dystrophy, hemorrhagic|Fundus dystrophy, pseudoinflammatory, of sorsby" +GARD:0010513,Orphanet,ORPHA:171866,Disorder,Disease,"Spondyloepimetaphyseal dysplasia, aggrecan type","SEMD, aggrecan type" +GARD:0010514,Orphanet,ORPHA:199343,Disorder,Disease,EAST syndrome,Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome|Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome|SeSAME syndrome|Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome +GARD:0010515,Orphanet,ORPHA:95430,Disorder,Morphological anomaly,Congenital tracheomalacia,Congenital major airway collapse +GARD:0010516,Orphanet,ORPHA:210115,Disorder,Disease,Sterile multifocal osteomyelitis with periostitis and pustulosis,Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|DIRA|Interleukin-1 receptor antagonist deficiency|OMPP +GARD:0010517,Orphanet+OMIM,OMIM:601499,Subtype of disorder,Malformation syndrome subtype,"Axenfeld-rieger syndrome, type 2", +GARD:0010518,Orphanet,ORPHA:2752,Disorder,Malformation syndrome,Orofaciodigital syndrome type 3,OFD3|Oral-facial-digital syndrome type 3|Sugarman syndrome +GARD:0010520,Orphanet,ORPHA:141007,Disorder,Malformation syndrome,Orofaciodigital syndrome type 9,OFD9|Oral-facial-digital syndrome type 9|Oral-facial-digital syndrome with retinal abnormalities|Orofaciodigital syndrome with retinal abnormalities +GARD:0010522,Orphanet,ORPHA:330054,Disorder,Disease,Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome +GARD:0010523,Orphanet,ORPHA:317430,Subtype of disorder,Clinical subtype,Combined immunodeficiency due to STIM1 deficiency,CID due to STIM1 deficiency +GARD:0010524,Orphanet,ORPHA:317428,Subtype of disorder,Clinical subtype,Combined immunodeficiency due to ORAI1 deficiency,CID due to ORAI1 deficiency +GARD:0010525,Orphanet,ORPHA:261183,Disorder,Malformation syndrome,15q11.2 microdeletion syndrome,15q11.2 BP1-BP2 microdeletion syndrome|Del(15)(q11.2)|Monosomy 15q11.2 +GARD:0010526,Orphanet,ORPHA:69083,Disorder,Malformation syndrome,"Ectodermal dysplasia with natal teeth, Turnpenny type", +GARD:0010528,Orphanet,ORPHA:2025,Disorder,Malformation syndrome,Gingival fibromatosis-facial dysmorphism syndrome, +GARD:0010529,Orphanet,ORPHA:593,Group of disorders,Category,Myofibrillar myopathy, +GARD:0010533,Orphanet,ORPHA:53351,Disorder,Disease,X-linked dystonia-parkinsonism,DYT3|Lubag|Lubag syndrome|XDP +GARD:0010536,Orphanet,ORPHA:370103,Disorder,Disease,"Primary dystonia, DYT17 type", +GARD:0010537,Orphanet,ORPHA:98807,Disorder,Disease,"Primary dystonia, DYT13 type",DYT13|Primary dystonia with mixed phenotype|Primary torsion dystonia with predominant craniocervical or upper limb onset +GARD:0010538,Orphanet,ORPHA:171629,Disorder,Disease,Autosomal recessive spastic paraplegia type 35,SPG35 +GARD:0010539,Orphanet,ORPHA:210571,Disorder,Disease,Dystonia 16,DYT16|Early-onset dystonia parkinsonism +GARD:0010541,Orphanet,ORPHA:98811,Disorder,Disease,Paroxysmal exertion-induced dyskinesia,DYT18|Dystonia 18|PED +GARD:0010544,Orphanet+OMIM,OMIM:601650,Subtype of disorder,Disease subtype,Paragangliomas 2,"Glomus tumors, familial, 2" +GARD:0010545,Orphanet+OMIM,OMIM:605373,Subtype of disorder,Disease subtype,Paragangliomas 3,"Glomus tumors, familial, 3" +GARD:0010546,Orphanet+OMIM,OMIM:115310,Subtype of disorder,Disease subtype,Paragangliomas 4,"paraganglioma, familial malignant|pheochromocytoma, familial extraadrenal|paragangliomas, hereditary extraadrenal|Carotid body tumors and multiple extraadrenal pheochromocytomas|pheochromocytoma, extraadrenal, and cervical paraganglioma" +GARD:0010556,Orphanet,ORPHA:86870,Disorder,Disease,CD4+/CD56+ hematodermic neoplasm,BPDCN|Blastic NK-cell lymphoma|Blastic plasmacytoid dendritic cell neoplasm|Lymphoblastoid variant of NK-cell lymphoma|Monomorphic NK-cell lymphoma +GARD:0010557,Orphanet,ORPHA:1727,Disorder,Malformation syndrome,22q11.2 duplication syndrome,22q11.2 microduplication syndrome|Dup(22)(q11)|Duplication 22q11.2|Trisomy 22q11.2 +GARD:0010559,Orphanet,ORPHA:264665,Group of disorders,Category,Primary interstitial lung disease specific to childhood,Primary ILD specific to childhood +GARD:0010560,Orphanet,ORPHA:85445,Disorder,Disease,AA amyloidosis,Inflammatory amyloidosis|Reactive amyloidosis|Secondary amyloidosis +GARD:0010562,Orphanet,ORPHA:137810,Disorder,Disease,Nodular cutaneous amyloidosis,PLCNA|Primary localized cutaneous nodular amyloidosis +GARD:0010570,Orphanet+OMIM,OMIM:263650,Subtype of disorder,Malformation syndrome subtype,Bartsocas-papas syndrome 1,"pterygium, popliteal, lethal type|multiple pterygium syndrome, aslan type|Popliteal pterygium syndrome, bartsocas-papas type 1|popliteal pterygium syndrome, lethal type" +GARD:0010572,Orphanet,ORPHA:85278,Disorder,Malformation syndrome,Christianson syndrome,X-linked Angelman-like syndrome +GARD:0010573,Orphanet,ORPHA:488434,Disorder,Malformation syndrome,"Camptodactyly syndrome, Guadalajara type 3", +GARD:0010574,Orphanet,ORPHA:178333,Disorder,Disease,Åland Islands eye disease,AIED|Forsius-Eriksson syndrome|Forsius-Eriksson type ocular albinism +GARD:0010578,Orphanet,ORPHA:101089,Subtype of disorder,Clinical subtype,Hyper-IgM syndrome type 2,AID deficiency|Activation-induced cytidine deaminase deficiency|HIGM2 +GARD:0010579,Orphanet,ORPHA:101090,Subtype of disorder,Clinical subtype,Hyper-IgM syndrome type 3,HIGM3|Hyper-IgM syndrome due to CD40 deficiency +GARD:0010580,Orphanet,ORPHA:101091,Subtype of disorder,Clinical subtype,Hyper-IgM syndrome type 4,HIGM4 +GARD:0010581,Orphanet,ORPHA:101092,Subtype of disorder,Clinical subtype,Hyper-IgM syndrome type 5,HIGM5|Hyper-IgM syndrome due to UNG deficiency|Hyper-IgM syndrome due to uracil N-glycosylase +GARD:0010582,Orphanet,ORPHA:217017,Disorder,Malformation syndrome,Zechi-Ceide syndrome,Occipital atretic cephalocele-unusual facies-large feet syndrome +GARD:0010583,Orphanet,ORPHA:59303,Disorder,Disease,Neonatal ichthyosis-sclerosing cholangitis syndrome,IHSC|Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|NISCH syndrome +GARD:0010584,Orphanet,ORPHA:85170,Disorder,Malformation syndrome,"Mesomelic dysplasia, Savarirayan type",Mesomelic dysplasia with absent fibulas and triangular tibias|Triangular tibia-fibular aplasia syndrome +GARD:0010585,Orphanet,ORPHA:86829,Disorder,Disease,Chronic neutrophilic leukemia, +GARD:0010586,Orphanet+OMIM,OMIM:610168,Subtype of disorder,Disease subtype|Malformation syndrome subtype,Loeys-dietz syndrome 2,"Aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly" +GARD:0010587,Orphanet,ORPHA:99027,Disorder,Disease,Adult-onset autosomal dominant leukodystrophy,ADLD|Adult-onset autosomal dominant demyelinating leukodystrophy +GARD:0010588,Orphanet+OMIM,OMIM:614816,Subtype of disorder,Disease subtype,Loeys-dietz syndrome 4,"Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations" +GARD:0010590,Orphanet,ORPHA:157801,Disorder,Morphological anomaly,Mesoaxial synostotic syndactyly with phalangeal reduction,"MSSD|Syndactyly type 9|Syndactyly, Malik-Percin type" +GARD:0010591,Orphanet,ORPHA:250994,Disorder,Malformation syndrome,1q21.1 microduplication syndrome,Dup(1)(q21.1)|Trisomy 1q21.1 +GARD:0010592,Orphanet,ORPHA:217346,Disorder,Malformation syndrome,19q13.11 microdeletion syndrome,Del(19)(q13.11)|Monosomy 19q13.11 +GARD:0010593,Orphanet,ORPHA:217371,Disorder,Disease,Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins +GARD:0010594,Orphanet,ORPHA:217382,Disorder,Disease,Neurodegenerative syndrome due to cerebral folate transport deficiency, +GARD:0010595,Orphanet,ORPHA:217266,Disorder,Malformation syndrome,BNAR syndrome,Bifid nose with or without anorectal and renal anomalies +GARD:0010597,Orphanet,ORPHA:99429,Disorder,Disease,Complete androgen insensitivity syndrome,CAIS|Complete androgen resistance syndrome +GARD:0010601,GARD,,Subtype of disorder,Disease,"Pituitary hormone deficiency, combined 1", +GARD:0010602,Orphanet,ORPHA:95494,Disorder,Disease,"Combined pituitary hormone deficiencies, genetic forms","Familial congenital hypopituitarism|Multiple pituitary hormone deficiencies, genetic forms" +GARD:0010603,Orphanet,ORPHA:231720,Disorder,Malformation syndrome,Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome +GARD:0010604,Orphanet,ORPHA:85442,Disorder,Disease,Short stature-pituitary and cerebellar defects-small sella turcica syndrome, +GARD:0010605,Orphanet,ORPHA:63446,Disorder,Malformation syndrome,Acrocapitofemoral dysplasia, +GARD:0010608,Orphanet,ORPHA:56305,Disorder,Malformation syndrome,Atelosteogenesis type III,AO3|AOIII|Atelosteogenesis type 3 +GARD:0010609,Orphanet,ORPHA:73273,Disorder,Disease,Growth delay due to insulin-like growth factor I resistance,Resistance to IGF-1 +GARD:0010611,Orphanet,ORPHA:156728,Disorder,Disease,"Spondyloepimetaphyseal dysplasia, matrilin-3 type","SEMD, MATN3-related|SEMD, matrilin-3 type" +GARD:0010612,Orphanet,ORPHA:1803,Disorder,Disease,Thoracomelic dysplasia,"Rivera-Perez-Salas syndrome|Thoracolimb dysplasia, Rivera type" +GARD:0010614,Orphanet,ORPHA:139399,Subtype of disorder,Clinical subtype,Adrenomyeloneuropathy, +GARD:0010615,Orphanet+OMIM,OMIM:610655,Subtype of disorder,Disease subtype,"Telangiectasia, hereditary hemorrhagic, type 4", +GARD:0010616,Orphanet,ORPHA:93358,Disorder,Disease,Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, +GARD:0010617,Orphanet,ORPHA:519384,Disorder,Morphological anomaly,Congenital cystic eye,Congenital anophthalmos with cyst +GARD:0010618,Orphanet,ORPHA:93356,Disorder,Disease,"Spondyloepimetaphyseal dysplasia, Missouri type","SEMD type 2|SEMD, Missouri type|Spondyloepimetaphyseal dysplasia type 2" +GARD:0010619,Orphanet+OMIM,OMIM:259440,Subtype of disorder,Clinical subtype,"Osteogenesis imperfecta, type ix","Oi, type ix" +GARD:0010620,Orphanet,ORPHA:178355,Disorder,Disease,Smith-McCort dysplasia, +GARD:0010623,Orphanet+OMIM,OMIM:216330,Subtype of disorder,Malformation syndrome subtype,"Cleidocranial dysplasia, recessive form", +GARD:0010624,Orphanet,ORPHA:93284,Disorder,Disease,Spondyloepiphyseal dysplasia tarda, +GARD:0010625,Orphanet+OMIM,OMIM:613789,Subtype of disorder,Disease subtype,"Complement component 8 deficiency, type ii","c8 beta deficiency|C8 deficiency, type ii|complement component 8b deficiency|c8b deficiency" +GARD:0010626,Orphanet+OMIM,OMIM:613790,Subtype of disorder,Disease subtype,"Complement component 8 deficiency, type i","C8 deficiency, type i|c8ag deficiency|c8 alpha-gamma deficiency" +GARD:0010627,Orphanet,ORPHA:73272,Disorder,Disease,Growth delay due to insulin-like growth factor type 1 deficiency,Growth delay-deafness-intellectual disability syndrome|Growth delay-hearing loss-intellectual disability syndrome|IGF-1 deficiency|Primary insulin-like growth factor deficiency +GARD:0010629,Orphanet,ORPHA:163654,Disorder,Disease,Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome,SED-BDS|Tattoo dysplasia +GARD:0010630,Orphanet,ORPHA:92050,Disorder,Disease,Congenital tufting enteropathy,IED|Intestinal epithelial dysplasia|Non-syndromic congenital tufting enteropathy +GARD:0010631,Orphanet,ORPHA:251607,Disorder,Disease,Pleomorphic xanthoastrocytoma,PXA +GARD:0010632,Orphanet,ORPHA:251618,Disorder,Disease,Subependymal giant cell astrocytoma,SEGA +GARD:0010633,Orphanet,ORPHA:251643,Disorder,Disease,Myxopapillary ependymoma, +GARD:0010634,Orphanet,ORPHA:251646,Disorder,Disease,Anaplastic ependymoma, +GARD:0010635,Orphanet,ORPHA:251679,Disorder,Disease,Astroblastoma, +GARD:0010637,Orphanet,ORPHA:251663,Disorder,Disease,Anaplastic oligoastrocytoma,aMOA +GARD:0010638,Orphanet,ORPHA:251937,Disorder,Disease,Gangliocytoma, +GARD:0010639,Orphanet,ORPHA:251957,Disorder,Disease,Anaplastic ganglioglioma, +GARD:0010640,Orphanet,ORPHA:251946,Disorder,Disease,Dysembryoplastic neuroepithelial tumor,DNET +GARD:0010641,Orphanet,ORPHA:73256,Disorder,Disease,Central neurocytoma, +GARD:0010642,Orphanet,ORPHA:251931,Disorder,Disease,Cerebellar liponeurocytoma, +GARD:0010643,Orphanet,ORPHA:97286,Disorder,Disease,Carney-Stratakis syndrome,Carney dyad|Carney-Stratakis dyad|GIST-paraganglioma dyad|Paraganglioma and gastric stromal sarcoma +GARD:0010644,Orphanet,ORPHA:251919,Disorder,Disease,Pineal parenchymal tumor of intermediate differenciation, +GARD:0010645,Orphanet,ORPHA:93623,Subtype of disorder,Clinical subtype,Dent disease type 2, +GARD:0010647,Orphanet,ORPHA:85167,Disorder,Disease,Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,SMD-CRD +GARD:0010648,Orphanet+OMIM,OMIM:610024,Subtype of disorder,Disease subtype,Retinal cone dystrophy 3a,"Cone dystrophy with night blindness and supernormal rod responses, pde6h-related" +GARD:0010649,Orphanet,ORPHA:209932,Disorder,Disease,Cone dystrophy with supernormal rod response,Cone dystrophy with supernormal rod ERG|Cone dystrophy with supernormal rod electroretinogram|Cone dystrophy with supernormal scotopic electroretinogram +GARD:0010650,Orphanet+OMIM,OMIM:610478,Subtype of disorder,Disease subtype,Retinal cone dystrophy 4, +GARD:0010651,Orphanet+OMIM,OMIM:600624,Subtype of disorder,Disease subtype,Cone-rod dystrophy 1, +GARD:0010652,Orphanet+OMIM,OMIM:304020,Subtype of disorder,Disease subtype,"Cone-rod dystrophy, x-linked, 1", +GARD:0010653,Orphanet+OMIM,OMIM:604116,Subtype of disorder,Disease subtype,Cone-rod dystrophy 3, +GARD:0010654,Orphanet+OMIM,OMIM:300476,Subtype of disorder,Disease subtype,"Cone-rod dystrophy, x-linked, 3", +GARD:0010655,Orphanet+OMIM,OMIM:600977,Subtype of disorder,Disease subtype,Cone-rod dystrophy 5, +GARD:0010656,Orphanet+OMIM,OMIM:601777,Subtype of disorder,Disease subtype,Cone-rod dystrophy 6,Retinal cone dystrophy 2 +GARD:0010657,Orphanet+OMIM,OMIM:125851,Subtype of disorder,Disease subtype,"Maturity-onset diabetes of the young, type 2","mody, glucokinase-related|Mody, type 2" +GARD:0010658,Orphanet+OMIM,OMIM:600496,Subtype of disorder,Disease subtype,"Maturity-onset diabetes of the young, type 3","Mody, type 3" +GARD:0010659,Orphanet+OMIM,OMIM:606392,Subtype of disorder,Disease subtype,"Maturity-onset diabetes of the young, type 4","Mody, type 4" +GARD:0010660,Orphanet+OMIM,OMIM:606394,Subtype of disorder,Disease subtype,"Maturity-onset diabetes of the young, type 6","Mody, type 6" +GARD:0010661,Orphanet+OMIM,OMIM:610508,Subtype of disorder,Disease subtype,"Maturity-onset diabetes of the young, type 7", +GARD:0010662,Orphanet+OMIM,OMIM:609812,Subtype of disorder,Disease subtype,"Maturity-onset diabetes of the young, type 8, with exocrine dysfunction",Diabetes and pancreatic exocrine dysfunction|diabetes-pancreatic exocrine dysfunction syndrome +GARD:0010663,Orphanet+OMIM,OMIM:612225,Subtype of disorder,Disease subtype,"Maturity-onset diabetes of the young, type 9", +GARD:0010664,Orphanet,ORPHA:443084,Disorder,Clinical syndrome,Baroreflex failure, +GARD:0010667,Orphanet,ORPHA:329466,Disorder,Disease,"Autosomal dominant focal dystonia, DYT25 type",DYT25|Dystonia 25 +GARD:0010670,Orphanet,ORPHA:309279,Group of disorders,Category,Glycoproteinosis, +GARD:0010675,Orphanet,ORPHA:85212,Subtype of disorder,Clinical subtype,Fetal Gaucher disease,Perinatal lethal Gaucher disease +GARD:0010679,Orphanet,ORPHA:88950,Subtype of disorder,Clinical subtype,UMOD-related autosomal dominant tubulointerstitial kidney disease,ADTKD-UMOD|Familial juvenile hyperuricemic nephropathy type 1|MCKD2|Medullary cystic kidney disease type 2|UMOD-related ADTKD|Uromodulin-associated kidney disease +GARD:0010680,Orphanet,ORPHA:94089,Disorder,Disease,Pseudohypoparathyroidism type 1B, +GARD:0010681,Orphanet,ORPHA:79444,Disorder,Disease,Pseudohypoparathyroidism type 1C, +GARD:0010682,Orphanet,ORPHA:94090,Disorder,Disease,Pseudohypoparathyroidism type 2, +GARD:0010684,Orphanet,ORPHA:35689,Disorder,Disease,Primary lateral sclerosis,Adult-onset PLS|Adult-onset primary lateral sclerosis|PLS +GARD:0010686,Orphanet,ORPHA:157846,Disorder,Disease,Neuroferritinopathy,Adult basal ganglia disease|Ferritin-related neurodegeneration|Hereditary ferritinopathy +GARD:0010688,Orphanet+OMIM,OMIM:610217,Subtype of disorder,Disease subtype,Neurodegeneration with brain iron accumulation 2b,"neuroaxonal dystrophy, atypical|Neurodegeneration with brain iron accumulation, pla2g6-related" +GARD:0010691,Orphanet+OMIM,OMIM:617041,Subtype of disorder,Malformation syndrome subtype,Duane retraction syndrome 3 with or without deafness, +GARD:0010692,Orphanet,ORPHA:140997,Group of disorders,Clinical group,Orofaciodigital syndrome,OFD|Oral-facial-digital syndrome +GARD:0010693,Orphanet,ORPHA:141327,Disorder,Malformation syndrome,Orofaciodigital syndrome type 12,Moran-Barroso syndrome|OFD12|Oral-facial-digital syndrome type 12 +GARD:0010694,Orphanet,ORPHA:141330,Disorder,Malformation syndrome,Orofaciodigital syndrome type 13,Degner syndrome|OFD13|Oral-facial-digital syndrome type 13 +GARD:0010695,Orphanet,ORPHA:99106,Subtype of disorder,Clinical subtype,"Atrial septal defect, ostium primum type","ASD, ostium primum type" +GARD:0010696,Orphanet,ORPHA:99105,Subtype of disorder,Clinical subtype,"Atrial septal defect, sinus venosus type","ASD, sinus venosus type" +GARD:0010697,Orphanet,ORPHA:99104,Subtype of disorder,Clinical subtype,"Atrial septal defect, coronary sinus type","ASD, coronary sinus type|Unroofed coronary sinus" +GARD:0010698,Orphanet+OMIM,OMIM:605275,Subtype of disorder,Malformation syndrome subtype,Noonan syndrome 2,"Noonan syndrome, autosomal recessive" +GARD:0010699,Orphanet+OMIM,OMIM:610733,Subtype of disorder,Malformation syndrome subtype,Noonan syndrome 4, +GARD:0010700,Orphanet+OMIM,OMIM:611553,Subtype of disorder,Malformation syndrome subtype,Noonan syndrome 5, +GARD:0010701,Orphanet+OMIM,OMIM:613224,Subtype of disorder,Malformation syndrome subtype,Noonan syndrome 6, +GARD:0010704,Orphanet,ORPHA:2254,Disorder,Malformation syndrome,Pontocerebellar hypoplasia type 1,Norman disease|PCH1 +GARD:0010705,Orphanet,ORPHA:2524,Disorder,Malformation syndrome,Pontocerebellar hypoplasia type 2,PCH2 +GARD:0010706,Orphanet,ORPHA:309854,Disorder,Disease,Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome, +GARD:0010707,Orphanet,ORPHA:90024,Disorder,Malformation syndrome,"Deafness with labyrinthine aplasia, microtia, and microdontia","Hearing loss with labyrinthine aplasia, microtia, and microdontia|LAMM syndrome|Microdontia-type I microtia-deafness syndrome|Microdontia-type I microtia-hearing loss syndrome" +GARD:0010708,Orphanet,ORPHA:97249,Disorder,Malformation syndrome,Pontocerebellar hypoplasia type 3,Cerebellar atrophy with progressive microcephaly|PCH3 +GARD:0010710,Orphanet,ORPHA:166073,Disorder,Malformation syndrome,Pontocerebellar hypoplasia type 6,Fatal infantile encephalopathy with mitochondrial respiratory chain defects|PCH6 +GARD:0010711,Orphanet,ORPHA:98497,Group of disorders,Category,Genetic peripheral neuropathy, +GARD:0010713,Orphanet,ORPHA:60039,Disorder,Disease,Pudendal neuralgia,Alcock syndrome|Pudendal algia|Pudendal nerve entrapment syndrome|Pudendal neuralgia by pudendal nerve entrapment|Pudendalgia +GARD:0010714,Orphanet,ORPHA:137605,Disorder,Malformation syndrome,Legius syndrome,NF1-like syndrome|Neurofibromatosis 1-like syndrome +GARD:0010716,Orphanet,ORPHA:391417,Disorder,Disease,HSD10 disease,2-methyl-3-hydroxybutyric aciduria|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency|HSD10 deficiency|MHBD deficiency +GARD:0010719,Orphanet,ORPHA:2701,Disorder,Malformation syndrome,Noonan syndrome-like disorder with loose anagen hair,Mazzanti syndrome|NS/LAH +GARD:0010726,Orphanet+OMIM,OMIM:277300,Subtype of disorder,Malformation syndrome subtype,"Spondylocostal dysostosis 1, autosomal recessive",spondylothoracic dysplasia|Vertebral anomalies|spondylothoracic dysostosis|costovertebral dysplasia|jarcho-levin syndrome +GARD:0010727,Orphanet,ORPHA:96169,Disorder,Malformation syndrome,Koolen-De Vries syndrome,KdVS +GARD:0010728,Orphanet,ORPHA:439854,Disorder,Disease,Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,Fatal congenital hypertrophic cardiomyopathy due to GSD|Fatal congenital hypertrophic cardiomyopathy due to glycogenosis +GARD:0010729,Orphanet,ORPHA:77293,Disorder,Disease,Chronic visceral acid sphingomyelinase deficiency,Chronic visceral ASMD|NPD-B|Niemann-Pick disease type B +GARD:0010730,Orphanet,ORPHA:79096,Disorder,Disease,Pyridoxal phosphate-responsive seizures,PNPO deficiency|PNPO-related neonatal epileptic encephalopathy|Pyridoxal phosphate-dependent seizures|Pyridoxamine 5'-oxidase deficiency|Pyridoxamine 5'-phosphate oxidase deficiency +GARD:0010731,Orphanet,ORPHA:59306,Disorder,Disease,McLeod neuroacanthocytosis syndrome,MLS|X-linked McLeod syndrome +GARD:0010732,Orphanet,ORPHA:542310,Disorder,Disease,Leukoencephalopathy with calcifications and cysts,LCC|Labrune syndrome +GARD:0010734,Orphanet,ORPHA:284343,Subtype of disorder,Clinical subtype,Pleuropulmonary blastoma familial tumor susceptibility syndrome,DICER1 syndrome|PPB familial tumor susceptibility syndrome|PPBFTDS|Pleuro-pulmonary blastoma familial tumor susceptibility syndrome +GARD:0010738,Orphanet,ORPHA:93600,Subtype of disorder,Clinical subtype,Primary hyperoxaluria type 3, +GARD:0010739,Orphanet,ORPHA:216,Group of disorders,Clinical group,Neuronal ceroid lipofuscinosis,NCL +GARD:0010740,Orphanet,ORPHA:261197,Disorder,Malformation syndrome,Proximal 16p11.2 microdeletion syndrome,Proximal del(16)(p11.2)|Proximal monosomy 16p11.2 +GARD:0010741,Orphanet,ORPHA:99642,Disorder,Disease,"Spondyloepimetaphyseal dysplasia, Handigodu type", +GARD:0010744,Orphanet,ORPHA:617910,Disorder,Disease,Conjunctival malignant melanoma,Conjunctival melanoma +GARD:0010752,Orphanet,ORPHA:304,Group of disorders,Clinical group,Epidermolysis bullosa simplex,EBS +GARD:0010753,Orphanet,ORPHA:2309,Disorder,Disease,Pachyonychia congenita,PC +GARD:0010754,Orphanet,ORPHA:353281,Subtype of disorder,Etiological subtype,Rubinstein-Taybi syndrome due to 16p13.3 microdeletion, +GARD:0010755,Orphanet,ORPHA:96078,Disorder,Malformation syndrome,16p13.3 microduplication syndrome,Distal duplication 16p|Distal trisomy 16p|Dup(16)(p13.3)|Telomeric duplication 16p|Trisomy 16pter +GARD:0010756,Orphanet,ORPHA:251,Group of disorders,Clinical group,Multiple epiphyseal dysplasia,EDM|MED|Polyepiphyseal dysplasia +GARD:0010758,Orphanet,ORPHA:97593,Group of disorders,Category,Pseudohypoparathyroidism, +GARD:0010760,Orphanet,ORPHA:137625,Disorder,Disease,Glycogen storage disease due to muscle and heart glycogen synthase deficiency,GSD due to muscle and heart glycogen synthase deficiency|GSD type 0b|Glycogen storage disease type 0b|Glycogenosis due to muscle and heart glycogen synthase deficiency|Glycogenosis type 0b +GARD:0010761,Orphanet,ORPHA:19,Group of disorders,Clinical group,2-hydroxyglutaric aciduria,2-hydroxyglutaric acidemia +GARD:0010762,Orphanet,ORPHA:289601,Disorder,Disease,Hereditary arterial and articular multiple calcification syndrome,CALJA|Calcification of joints and arteries +GARD:0010763,Orphanet+OMIM,OMIM:126800,Subtype of disorder,Malformation syndrome subtype,Duane retraction syndrome 1, +GARD:0010764,Orphanet,ORPHA:289891,Disorder,Disease,Hypermethioninemia due to glycine N-methyltransferase deficiency,Glycine N-methyltransferase deficiency|Hypermethioninemia due to GNMT deficiency +GARD:0010766,Orphanet,ORPHA:331,Disorder,Disease,Congenital factor XIII deficiency,Fibrin-stabilizing factor deficiency +GARD:0010767,Orphanet,ORPHA:79330,Disorder,Disease,MOGS-CDG,CDG syndrome type IIb|CDG-IIb|CDG2B|Carbohydrate deficient glycoprotein syndrome type IIb|Congenital disorder of glycosylation type 2b|Congenital disorder of glycosylation type IIb|Glucosidase 1 deficiency +GARD:0010768,Orphanet,ORPHA:569,Disorder,Disease,Familial or sporadic hemiplegic migraine, +GARD:0010769,Orphanet,ORPHA:59135,Disorder,Disease,Laing early-onset distal myopathy,Distal myopathy type 1|Gowers disease|MPD1 +GARD:0010771,Orphanet,ORPHA:478,Subtype of disorder,Clinical subtype,Kallmann syndrome,Congenital hypogonadotropic hypogonadism with anosmia|Olfacto-genital pathological sequence +GARD:0010772,Orphanet+OMIM,OMIM:610628,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 4 with or without anosmia, +GARD:0010773,Orphanet+OMIM,OMIM:612370,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 5 with or without anosmia, +GARD:0010774,Orphanet+OMIM,OMIM:612702,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 6 with or without anosmia, +GARD:0010775,Orphanet,ORPHA:228426,Disorder,Disease,Syndromic multisystem autoimmune disease due to Itch deficiency, +GARD:0010777,Orphanet,ORPHA:168816,Disorder,Disease,Peritoneal cystic mesothelioma,Benign multicystic peritoneal mesothelioma|Multicystic mesothelioma|Multilocular peritoneal inclusion cyst +GARD:0010778,Orphanet,ORPHA:169142,Disorder,Disease,Recurrent infection due to specific granule deficiency,Neutrophil-specific granule deficiency +GARD:0010779,Orphanet,ORPHA:284448,Disorder,Disease,CLIPPERS,Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids +GARD:0010780,Orphanet,ORPHA:617916,Disorder,Disease,Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia, +GARD:0010781,Orphanet,ORPHA:53540,Disorder,Disease,Goldmann-Favre syndrome,Enhanced S-cone syndrome|Retinoschisis with early nyctalopia +GARD:0010782,Orphanet,ORPHA:828,Disorder,Disease,Stickler syndrome,Hereditary progressive arthroophthalmopathy +GARD:0010783,Orphanet,ORPHA:208444,Subtype of disorder,Clinical subtype,Bilateral frontal polymicrogyria, +GARD:0010784,Orphanet,ORPHA:101070,Subtype of disorder,Clinical subtype,Bilateral frontoparietal polymicrogyria, +GARD:0010785,Orphanet,ORPHA:208441,Subtype of disorder,Clinical subtype,Bilateral parasagittal parieto-occipital polymicrogyria, +GARD:0010786,Orphanet,ORPHA:208447,Subtype of disorder,Clinical subtype,Bilateral generalized polymicrogyria, +GARD:0010788,Orphanet,ORPHA:60030,Disorder,Malformation syndrome,Loeys-Dietz syndrome,Aortic aneurysm syndrome due to TGF-beta receptors anomalies +GARD:0010790,Orphanet,ORPHA:1872,Disorder,Disease,Cone rod dystrophy, +GARD:0010791,Orphanet,ORPHA:250831,Disorder,Disease,Logopenic progressive aphasia,LPA|Logopenic primary progressive aphasia|Logopenic variant PPA +GARD:0010792,Orphanet,ORPHA:100069,Disorder,Disease,Semantic dementia,Semantic primary progressive aphasia|Semantic variant PPA +GARD:0010793,Orphanet,ORPHA:100070,Disorder,Disease,Progressive non-fluent aphasia,Agramatic variant of PPA|Agramatic variant of primary progressive aphasia|Non-fluent variant PPA +GARD:0010794,Orphanet,ORPHA:157835,Disorder,Disease,Paroxysmal hemicrania, +GARD:0010795,Orphanet,ORPHA:443070,Disorder,Disease,Hemicrania continua, +GARD:0010796,Orphanet,ORPHA:276429,Disorder,Disease,Hypnic headache, +GARD:0010801,Orphanet,ORPHA:34149,Disorder,Disease,Autosomal dominant tubulointerstitial kidney disease,ADTKD|Familial juvenile hyperuricemic nephropathy|MCKD|Medullary cystic kidney disease +GARD:0010803,Orphanet,ORPHA:313,Disorder,Disease,Lamellar ichthyosis,Classic lamellar ichthyosis|Congenital lamellar ichthyosis|LI +GARD:0010804,Orphanet,ORPHA:213531,Disorder,Disease,Metaplastic carcinoma of the breast, +GARD:0010805,Orphanet,ORPHA:247798,Subtype of disorder,Clinical subtype,MUTYH-related attenuated familial adenomatous polyposis,MUTYH-related AFAP|MUTYH-related attenuated FAP|MUTYH-related attenuated familial polyposis coli +GARD:0010806,Orphanet,ORPHA:101039,Disorder,Disease,Female restricted epilepsy with intellectual disability,EFMR|Juberg-Hellman syndrome +GARD:0010808,Orphanet,ORPHA:411593,Disorder,Disease,Insulin autoimmune syndrome,Hirata disease +GARD:0010809,Orphanet,ORPHA:279947,Disorder,Clinical syndrome,Postorgasmic illness syndrome,POIS +GARD:0010810,Orphanet,ORPHA:329308,Disorder,Disease,Fatty acid hydroxylase-associated neurodegeneration,FAHN +GARD:0010813,Orphanet,ORPHA:250989,Disorder,Malformation syndrome,1q21.1 microdeletion syndrome,Del(1)(q21)|Monosomy 1q21.1 +GARD:0010814,Orphanet,ORPHA:79102,Disorder,Disease,Thyrotoxic periodic paralysis,Thyrotoxic hypokalemic periodic paralysis +GARD:0010816,Orphanet,ORPHA:254463,Disorder,Disease,Lichen planus pigmentosus,LP pigmentosa|LP pigmentosus|Lichen planus pigmentosa|Lichen planus pigmentosus inversus +GARD:0010817,Orphanet,ORPHA:101011,Disorder,Disease,Autosomal dominant spastic paraplegia type 31,SPG31 +GARD:0010818,Orphanet,ORPHA:289504,Disorder,Disease,Combined malonic and methylmalonic acidemia,CMAMMA|Combined malonic and methylmalonic aciduria +GARD:0010821,Orphanet,ORPHA:83594,Disorder,Disease,Eastern equine encephalitis,Eastern equine encephalomyelitis +GARD:0010822,Orphanet,ORPHA:458718,Disorder,Disease,Idiopathic spontaneous coronary artery dissection,Idiopathic SCAD +GARD:0010823,Orphanet,ORPHA:71526,Subtype of disorder,Etiological subtype,Obesity due to pro-opiomelanocortin deficiency,POMC deficiency +GARD:0010824,Orphanet,ORPHA:189427,Disorder,Disease,Cushing syndrome due to macronodular adrenal hyperplasia,Primary bilateral macronodular adrenal hyperplasia +GARD:0010828,Orphanet,ORPHA:405,Disorder,Disease,Familial hypocalciuric hypercalcemia,FBH|FBHH|FHH|Familial benign hypercalcemia|Familial benign hypocalciuric hypercalcemia +GARD:0010829,Orphanet,ORPHA:99880,Disorder,Disease,Hyperparathyroidism-jaw tumor syndrome,HPT-JT +GARD:0010830,Orphanet,ORPHA:263432,Disorder,Disease,Nevus of Ito,Nevus fuscocaeruleus acromiodeltoideus +GARD:0010837,Orphanet,ORPHA:96171,Disorder,Malformation syndrome,Ring chromosome 2 syndrome,Ring 2|Ring chromosome 2 +GARD:0010839,Orphanet,ORPHA:96172,Disorder,Malformation syndrome,Ring chromosome 3 syndrome,Ring 3|Ring chromosome 3 +GARD:0010841,Orphanet,ORPHA:251043,Disorder,Malformation syndrome,Ring chromosome 5 syndrome,Ring 5|Ring chromosome 5 +GARD:0010846,Orphanet,ORPHA:96175,Disorder,Malformation syndrome,Ring chromosome 11 syndrome,RC11|Ring 11|Ring chromosome 11|r(11) syndrome +GARD:0010855,Orphanet,ORPHA:96178,Disorder,Malformation syndrome,Ring chromosome 16 syndrome,Ring 16|Ring chromosome 16 +GARD:0010860,Orphanet,ORPHA:574,Disorder,Malformation syndrome,Monosomy 21,21q deletion syndrome|21q- syndrome|Partial 21q monosomy +GARD:0010865,Orphanet,ORPHA:1600,Disorder,Malformation syndrome,Monosomy 18q,18q deletion syndrome|18q- syndrome|Deletion 18q +GARD:0010867,Orphanet,ORPHA:867,Subtype of disorder,Clinical subtype,Familial multiple trichoepithelioma, +GARD:0010870,Orphanet,ORPHA:834,Disorder,Disease,Free sialic acid storage disease, +GARD:0010871,Orphanet,ORPHA:309331,Subtype of disorder,Clinical subtype,Intermediate severe Salla disease, +GARD:0010872,Orphanet,ORPHA:3148,Disorder,Disease,Malignant peripheral nerve sheath tumor,MPNST|Malignant neurilemmoma|Malignant neurofibroma|Malignant schwannoma|Neurofibrosarcoma|Neurogenic sarcoma +GARD:0010875,Orphanet,ORPHA:450,Group of disorders,Category,Heterotaxia,Heterotaxy syndrome|Lateralization defect|Visceral heterotaxy +GARD:0010876,Orphanet,ORPHA:3269,Disorder,Morphological anomaly,Congenital radioulnar synostosis,Radioulnar fusion +GARD:0010877,Orphanet,ORPHA:53715,Disorder,Disease,Familial tumoral calcinosis, +GARD:0010878,Orphanet,ORPHA:306658,Subtype of disorder,Clinical subtype,Familial normophosphatemic tumoral calcinosis, +GARD:0010879,Orphanet,ORPHA:306661,Subtype of disorder,Clinical subtype,Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome,Hypercalcemic tumoral calcinosis +GARD:0010880,Orphanet+OMIM,OMIM:613829,Subtype of disorder,Disease subtype,Leber congenital amaurosis 7, +GARD:0010881,Orphanet+OMIM,OMIM:613835,Subtype of disorder,Disease subtype,Leber congenital amaurosis 8, +GARD:0010882,Orphanet+OMIM,OMIM:612712,Subtype of disorder,Disease subtype,Leber congenital amaurosis 13, +GARD:0010883,Orphanet+OMIM,OMIM:613341,Subtype of disorder,Disease subtype,Leber congenital amaurosis 14, +GARD:0010884,Orphanet+OMIM,OMIM:613843,Subtype of disorder,Disease subtype,Leber congenital amaurosis 15, +GARD:0010885,Orphanet+OMIM,OMIM:614186,Subtype of disorder,Disease subtype,Leber congenital amaurosis 16, +GARD:0010886,Orphanet,ORPHA:254492,Disorder,Disease,Frontal fibrosing alopecia,FFA +GARD:0010887,Orphanet,ORPHA:488265,Disorder,Disease,Osteofibrous dysplasia,OFD +GARD:0010889,Orphanet,ORPHA:73229,Disorder,Disease,HANAC syndrome,Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome|Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome +GARD:0010890,Orphanet,ORPHA:141179,Disorder,Disease,Non-involuting congenital hemangioma,NICH +GARD:0010891,Orphanet,ORPHA:354,Disorder,Disease,GM1 gangliosidosis,Beta-galactosidase-1 deficiency|GLB1 deficiency|Landing disease +GARD:0010892,Orphanet,ORPHA:293642,Group of disorders,Clinical group,Blepharophimosis-intellectual disability syndrome,BMRS +GARD:0010898,Orphanet,ORPHA:98872,Disorder,Disease,Primary acquired pure red cell aplasia,Primary acquired PRCA +GARD:0010899,Orphanet,ORPHA:52430,Disorder,Disease,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,IBMPFD|Limb-girdle muscular dystrophy with Paget disease of bone|Pagetoid amyotrophic lateral sclerosis|Pagetoid neuroskeletal syndrome +GARD:0010900,Orphanet,ORPHA:26106,Disorder,Disease,Hereditary diffuse gastric cancer,FDGC|Familial diffuse cancer of stomach|Familial diffuse gastric cancer|HDGC|Hereditary diffuse cancer of stomach|Hereditary diffuse gastric adenocarcinoma +GARD:0010902,Orphanet,ORPHA:263440,Group of disorders,Clinical group,Neuroacanthocytosis, +GARD:0010903,Orphanet,ORPHA:1293,Group of disorders,Clinical group,Brachyolmia, +GARD:0010905,Orphanet,ORPHA:1775,Disorder,Disease,Dyskeratosis congenita,DC|DKC|Zinsser-Engman-Cole syndrome +GARD:0010906,Orphanet,ORPHA:189439,Disorder,Disease,Primary pigmented nodular adrenocortical disease,PPNAD|Primary pigmented nodular adrenal dysplasia +GARD:0010907,Orphanet,ORPHA:317476,Disorder,Disease,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",CID due to MAGT1 deficiency|Combined immunodeficiency due to MAGT1 deficiency|XMEN +GARD:0010909,Orphanet,ORPHA:99000,Disorder,Disease,Adult-onset foveomacular vitelliform dystrophy,AOFMD|AVMD|Adult-onset foveomacular dystrophy|Adult-onset foveomacular dystrophy with choroidal neovascularization|Adult-onset vitelliform macular dystrophy|Gass disease|Pseudo-Best disease|Pseudo-vitelliform macular dystrophy +GARD:0010910,Orphanet,ORPHA:57196,Disorder,Disease,Medial condensing osteitis of the clavicle,Osteitis condensans of the clavicle +GARD:0010911,Orphanet,ORPHA:103919,Group of disorders,Clinical group,Autoimmune pancreatitis,AIP +GARD:0010913,Orphanet,ORPHA:381,Disorder,Disease,Griscelli syndrome,Chédiak-Higashi-like syndrome|Griscelli-Pruniéras syndrome|Partial albinism-immunodeficiency syndrome +GARD:0010914,Orphanet,ORPHA:86820,Disorder,Disease,Familial avascular necrosis of femoral head,Familial osteonecrosis of the femoral head +GARD:0010915,Orphanet,ORPHA:2442,Group of disorders,Clinical group,X-linked lymphoproliferative disease,Duncan disease|Purtilo syndrome|XLP +GARD:0010916,Orphanet,ORPHA:538934,Disorder,Disease,X-linked lymphoproliferative disease due to XIAP deficiency,X-linked lymphoproliferative syndrome type 2|XIAP deficiency syndrome|XLP2 +GARD:0010917,Orphanet,ORPHA:139441,Disorder,Disease,Hypomyelination with atrophy of basal ganglia and cerebellum,H-ABC +GARD:0010919,Orphanet,ORPHA:269229,Disorder,Morphological anomaly,Pontine tegmental cap dysplasia,PTCD +GARD:0010921,Orphanet,ORPHA:100003,Disorder,Disease,Intraneural perineurioma, +GARD:0010922,Orphanet,ORPHA:261534,Disorder,Malformation syndrome,"49,XXXYY syndrome", +GARD:0010923,Orphanet,ORPHA:308166,Group of disorders,Clinical group,Erythrokeratoderma variabilis progressiva, +GARD:0010924,Orphanet,ORPHA:139411,Disorder,Disease,Carney triad, +GARD:0010925,Orphanet,ORPHA:83483,Disorder,Disease,La Crosse encephalitis,Californian encephalitis +GARD:0010927,Orphanet,ORPHA:208650,Group of disorders,Clinical group,Cryopyrin-associated periodic syndrome,CAPS|Cryopyrinopathy|NLRP3-associated systemic autoinflammatory disease +GARD:0010929,Orphanet,ORPHA:48372,Subtype of disorder,Histopathological subtype,Nodular regenerative hyperplasia of the liver,Non-cirrhotic nodulation +GARD:0010933,Orphanet+OMIM,OMIM:613402,Subtype of disorder,Clinical syndrome subtype,"Microcephaly, seizures, and developmental delay","epileptic encephalopathy, early infantile, 10|Developmental and epileptic encephalopathy 10" +GARD:0010934,Orphanet,ORPHA:228423,Disorder,Disease,Monocytopenia with susceptibility to infections,"Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections|Dendritic cell, monocyte, B and NK lymphoid deficiency|MonoMAC|Monocyte-B-natural killer-dendritic cell deficiency syndrome|Monocytopenia and mycobacterial infection syndrome" +GARD:0010935,Orphanet,ORPHA:261250,Disorder,Malformation syndrome,16q24.3 microdeletion syndrome,Del(16)(q24.3)|Monosomy 16q24.3 +GARD:0010936,Orphanet,ORPHA:261279,Disorder,Malformation syndrome,17q23.1q23.2 microdeletion syndrome,Del(17)(q23.1q23.2)|Monosomy 17q23.1q23.2 +GARD:0010937,Orphanet+OMIM,OMIM:613327,Subtype of disorder,Disease subtype,"Lipodystrophy, congenital generalized, type 4","lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy|Berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy" +GARD:0010938,Orphanet,ORPHA:231736,Disorder,Malformation syndrome,Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,MPPC syndrome +GARD:0010939,Orphanet,ORPHA:140944,Disorder,Malformation syndrome,CLOVES syndrome,Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome +GARD:0010940,Orphanet,ORPHA:88633,Disorder,Disease,Superior limbic keratoconjunctivitis,SLK|Theodore superior limbic keratoconjunctivitis|Theodore syndrome +GARD:0010941,Orphanet,ORPHA:280886,Group of disorders,Category,Anterior uveitis,Iridocyclitis +GARD:0010942,Orphanet,ORPHA:238763,Disorder,Malformation syndrome,Glaucoma secondary to spherophakia/ectopia lentis and megalocornea,Megalocornea-spherophakia-secondary glaucoma syndrome +GARD:0010943,Orphanet,ORPHA:238769,Disorder,Malformation syndrome,1q44 microdeletion syndrome,Del(1)(q44)|Monosomy 1q44 +GARD:0010944,Orphanet,ORPHA:464443,Disorder,Disease,COG6-CGD,CDG syndrome type IIL|CDG-IIL|CDG2L|Congenital disorder of glycosylation type 2l|Congenital disorder of glycosylation type IIL +GARD:0010945,Orphanet,ORPHA:391677,Disorder,Malformation syndrome,Short stature-optic atrophy-Pelger-Huët anomaly syndrome,SOPH syndrome +GARD:0010946,Orphanet,ORPHA:54251,Disorder,Disease,Corticosteroid-sensitive aseptic abscess syndrome,Aseptic abscesses syndrome|Aseptic systemic abscesses|Disseminated aseptic abscesses +GARD:0010947,Orphanet,ORPHA:178338,Disorder,Disease,UV-sensitive syndrome, +GARD:0010948,Orphanet,ORPHA:280379,Disorder,Disease,Erythropoietic uroporphyria associated with myeloid malignancy, +GARD:0010949,Orphanet,ORPHA:73267,Disorder,Disease,Non-24-hour sleep-wake syndrome,Hypernychthemeral syndrome +GARD:0010951,Orphanet,ORPHA:158011,Disorder,Disease,Necrobiotic xanthogranuloma, +GARD:0010954,Orphanet,ORPHA:6,Disorder,Disease,3-methylcrotonyl-CoA carboxylase deficiency,3-methylcrotonylglycinuria|MCC deficiency|MCCD +GARD:0010955,Orphanet,ORPHA:648,Disorder,Malformation syndrome,Noonan syndrome, +GARD:0010956,Orphanet,ORPHA:331223,Group of disorders,Clinical group,Hyper-IgE syndrome, +GARD:0010957,Orphanet,ORPHA:209981,Disorder,Disease,IRIDA syndrome,Iron-refractory iron deficiency anemia +GARD:0010958,Orphanet,ORPHA:55,Group of disorders,Clinical group,Oculocutaneous albinism,OCA +GARD:0010959,Orphanet,ORPHA:314777,Disorder,Disease,Familial isolated pituitary adenoma,FIPA +GARD:0010962,Orphanet,ORPHA:284227,Disorder,Clinical syndrome,TEMPI syndrome,Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome +GARD:0010964,Orphanet,ORPHA:99921,Subtype of disorder,Clinical subtype,Chronic graft versus host disease, +GARD:0010965,Orphanet,ORPHA:313855,Disorder,Disease,FGFR2-related bent bone dysplasia,Perinatal lethal bent bone dysplasia +GARD:0010966,Orphanet,ORPHA:85414,Disorder,Disease,Systemic-onset juvenile idiopathic arthritis,Still disease|Systemic-onset JIA +GARD:0010969,Orphanet,ORPHA:85438,Disorder,Disease,Enthesitis-related juvenile idiopathic arthritis,Enthesitis-related JIA|Juvenile ERA +GARD:0010970,Orphanet,ORPHA:85436,Disorder,Disease,Psoriasis-related juvenile idiopathic arthritis,Juvenile psoriatic arthritis|Psoriasis-related JIA +GARD:0010972,Orphanet,ORPHA:1597,Disorder,Malformation syndrome,Distal monosomy 17q,Distal 17q deletion|Monosomy 17qter|Telomeric deletion 17q +GARD:0010973,Orphanet,ORPHA:79262,Disorder,Disease,Adult neuronal ceroid lipofuscinosis,ANCL|Adult NCL|Kufs disease +GARD:0010974,Orphanet+OMIM,OMIM:609634,Subtype of disorder,Disease subtype,"Migraine, familial hemiplegic, 3", +GARD:0010977,Orphanet,ORPHA:98523,Group of disorders,Clinical group,Non-syndromic pontocerebellar hypoplasia,PCH|Pontoneocerebellar atrophy|Pontoneocerebellar hypoplasia +GARD:0010980,Orphanet,ORPHA:227982,Disorder,Disease,Autoimmune polyendocrinopathy type 3,APS type 3|APS3|Autoimmune polyendocrine syndrome type 3|Autoimmune polyglandular syndrome type 3 +GARD:0010981,Orphanet,ORPHA:313808,Disorder,Disease,Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia,"ALSP|Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|Autosomal dominant leukoencephalopathy with neuroaxonal spheroids|FPSG|Familial dementia, Neumann type|Familial progressive subcortical gliosis|GPSC|HDLS|Hereditary diffuse leukoencephalopathy with spheroids|POLD|Pigmentary orthochromatic leukodystrophy|Subcortical gliosis of Neumann" +GARD:0010983,Orphanet,ORPHA:79152,Disorder,Disease,Disseminated superficial actinic porokeratosis, +GARD:0010984,Orphanet,ORPHA:319552,Disorder,Disease,Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,MSMD due to complete IL12RB1 deficiency|MSMD due to complete interleukin 12 receptor beta 1 deficiency|Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency +GARD:0010985,Orphanet,ORPHA:54260,Disorder,Disease,Left ventricular noncompaction,LVNC|Left ventricular hypertrabeculation|Spongy myocardium +GARD:0010986,Orphanet,ORPHA:33111,Disorder,Disease,Granulomatous slack skin, +GARD:0010989,Orphanet,ORPHA:363649,Disorder,Disease,Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,MDP syndrome|MDPL syndrome|Mandibular hypoplasia-hearing loss-progeroid syndrome +GARD:0010991,Orphanet,ORPHA:254346,Disorder,Malformation syndrome,19p13.12 microdeletion syndrome,Del(19)(p13.12)|Monosomy 19p13.12 +GARD:0010992,Orphanet,ORPHA:254343,Disorder,Disease,Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,Autosomal recessive spastic ataxia type 4|SPAX4 +GARD:0010994,Orphanet,ORPHA:85201,Disorder,Malformation syndrome,Genitopatellar syndrome,Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome +GARD:0010995,Orphanet,ORPHA:402364,Disorder,Malformation syndrome,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, +GARD:0010996,Orphanet,ORPHA:319171,Disorder,Malformation syndrome,Distal 17p13.1 microdeletion syndrome,Distal del(17)(p13.1) +GARD:0010997,Orphanet,ORPHA:284984,Disorder,Disease,Aneurysm-osteoarthritis syndrome, +GARD:0010998,Orphanet,ORPHA:228402,Disorder,Malformation syndrome,2q23.1 microdeletion syndrome,Del(2)(q23.1)|Monosomy 2q23.1|Pseudo-Angelman syndrome +GARD:0010999,Orphanet,ORPHA:280763,Disorder,Disease,Severe intellectual disability and progressive spastic paraplegia,AP4 deficiency syndrome +GARD:0011000,Orphanet,ORPHA:319651,Disorder,Disease,Constitutional megaloblastic anemia with severe neurologic disease,DHFR deficiency|Dihydrofolate reductase deficiency +GARD:0011003,Orphanet,ORPHA:401996,Disorder,Disease,Karyomegalic interstitial nephritis,KIN|Systemic karyomegaly +GARD:0011004,Orphanet,ORPHA:79150,Disorder,Disease,Linear and whorled nevoid hypermelanosis,LWNH +GARD:0011005,Orphanet,ORPHA:163703,Disorder,Disease,Febrile infection-related epilepsy syndrome,AERRPS|Acute encephalitis with refractory repetitive partial seizures|Acute non-herpetic encephalitis with severe refractory status epilepticus|DESC syndrome|Devastating epileptic encephalopathy in school-aged children|FIRES|Fever-induced refractory epileptic encephalopathy in school-aged children|Idiopathic catastrophic epileptic encephalopathy|Severe refractory status epilepticus owing to presumed encephalitis +GARD:0011006,Orphanet,ORPHA:300501,Disorder,Malformation syndrome,Painful orbital and systemic neurofibromas-marfanoid habitus syndrome, +GARD:0011007,Orphanet,ORPHA:300504,Disorder,Disease,Onychocytic matricoma,Acanthoma of the nail matrix +GARD:0011008,Orphanet,ORPHA:280576,Disorder,Malformation syndrome,Nestor-Guillermo progeria syndrome,NGPS +GARD:0011009,Orphanet,ORPHA:280586,Disorder,Malformation syndrome,"Chondrodysplasia with joint dislocations, gPAPP type",gPAPP deficiency +GARD:0011010,Orphanet,ORPHA:280598,Disorder,Disease,Hereditary sensorimotor neuropathy with hyperelastic skin, +GARD:0011011,Orphanet,ORPHA:641,Disorder,Disease,Multifocal motor neuropathy,MMN|MMNCB|Multifocal motor neuropathy with conduction block +GARD:0011855,Orphanet,ORPHA:314422,Disorder,Disease,Ameloblastic carcinoma, +GARD:0011890,Orphanet,ORPHA:79189,Group of disorders,Clinical group,Peroxisome biogenesis disorder,PBD-ZSD|Peroxisome biogenesis disorder spectrum|Peroxisome biogenesis disorder-Zellweger spectrum disorder +GARD:0011892,Orphanet,ORPHA:53721,Disorder,Malformation syndrome,Spinal arteriovenous metameric syndrome,Cobb syndrome|Cutaneomeningospinal angiomatosis|SAMS 1-31 +GARD:0011893,Orphanet,ORPHA:2457,Disorder,Malformation syndrome,Mandibuloacral dysplasia,MAD +GARD:0011894,Orphanet,ORPHA:60025,Disorder,Disease,Pulmonary alveolar microlithiasis, +GARD:0011895,Orphanet,ORPHA:137672,Disorder,Disease,Pellucid marginal degeneration, +GARD:0011897,Orphanet,ORPHA:1871,Disorder,Disease,Progressive cone dystrophy,Cone dystrophy +GARD:0011898,Orphanet,ORPHA:254379,Disorder,Disease,Linear lichen planus,Blaschkoid LP|Blaschkoid lichen planus|Linear LP +GARD:0011899,Orphanet,ORPHA:385,Group of disorders,Clinical group,Neurodegeneration with brain iron accumulation,NBIA +GARD:0011901,Orphanet,ORPHA:300605,Disorder,Disease,Juvenile amyotrophic lateral sclerosis,JALS|Juvenile Charcot disease|Juvenile Lou Gehrig disease +GARD:0011902,Orphanet,ORPHA:590,Disorder,Disease,Congenital myasthenic syndrome,CMS +GARD:0011903,Orphanet,ORPHA:70593,Disorder,Disease,Immunodeficiency due to selective anti-polysaccharide antibody deficiency,Specific anti-polysaccharide antibody deficiency +GARD:0011904,Orphanet,ORPHA:137667,Disorder,Malformation syndrome,Capillary malformation-arteriovenous malformation,CM-AVM +GARD:0011906,Orphanet,ORPHA:171886,Disorder,Disease,Cylindrical spirals myopathy, +GARD:0011907,Orphanet,ORPHA:86843,Disorder,Disease,Acute panmyelosis with myelofibrosis,Acute myelodysplasia with myelofibrosis|Acute myelofibrosis|Acute myelosclerosis +GARD:0011908,Orphanet,ORPHA:166291,Disorder,Disease,Dirofilariasis, +GARD:0011910,Orphanet,ORPHA:79474,Disorder,Disease,Atypical Werner syndrome,Atypical progeroid syndrome +GARD:0011911,Orphanet,ORPHA:94064,Disorder,Malformation syndrome,Deafness-infertility syndrome,DIS|Hearing loss-infertility syndrome +GARD:0011914,Orphanet,ORPHA:275777,Subtype of disorder,Etiological subtype,Heritable pulmonary arterial hypertension,FPAH|Familial pulmonary arterial hypertension|HPAH|Hereditary pulmonary arterial hypertension +GARD:0011915,Orphanet,ORPHA:171881,Disorder,Disease,Cap myopathy,Cap disease +GARD:0011918,Orphanet,ORPHA:98784,Disorder,Disease,Autosomal dominant nocturnal frontal lobe epilepsy,ADNFLE|Autosomal dominant sleep-related hypermotor epilepsy +GARD:0011923,Orphanet,ORPHA:284400,Disorder,Disease,Small cell carcinoma of the bladder,Poorly differentiated neuroendocrine carcinoma of the bladder|SCCB|Small cell bladder cancer|Small cell bladder carcinoma|Small cell carcinoma of the urinary bladder +GARD:0011925,Orphanet,ORPHA:596,Disorder,Disease,X-linked centronuclear myopathy,X-linked myotubular myopathy|XLCNM|XLMTM +GARD:0011927,Orphanet,ORPHA:456318,Disorder,Disease,Hereditary sensory neuropathy-deafness-dementia syndrome,HSAN1E|HSN1E|Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome +GARD:0011951,Orphanet,ORPHA:780,Disorder,Disease,Rhabdomyosarcoma, +GARD:0011953,Orphanet,ORPHA:547,Group of disorders,Category,Non-Hodgkin lymphoma,NHL +GARD:0011962,Orphanet,ORPHA:98306,Group of disorders,Clinical group,Familial partial lipodystrophy,FPLD +GARD:0011971,Orphanet,ORPHA:71273,Disorder,Disease,Renal nutcracker syndrome,Left renal vein entrapment syndrome|RNS +GARD:0011972,Orphanet,ORPHA:98672,Group of disorders,Clinical group,Autosomal dominant optic atrophy,ADOA|DOA +GARD:0011973,Orphanet,ORPHA:86886,Disorder,Disease,Angioimmunoblastic T-cell lymphoma,"AILT|Immunoblastic lymphadenopathy|Lymphogranulomatosis X|T-cell lymphoma, AILD type" +GARD:0011974,Orphanet,ORPHA:65286,Disorder,Malformation syndrome,3q29 microdeletion syndrome,3q subtelomere deletion syndrome|3qter deletion|Del(3)(q29)|Monosomy 3q29|Monosomy 3qter +GARD:0011979,Orphanet,ORPHA:622014,Group of disorders,Clinical group,Autoimmune encephalitis,AE|AIE +GARD:0011980,Orphanet,ORPHA:85163,Disorder,Malformation syndrome,Hypomyelination-congenital cataract syndrome, +GARD:0011982,Orphanet,ORPHA:54370,Disorder,Disease,Primary membranoproliferative glomerulonephritis,Mesangiocapillary glomerulonephritis|Primary MPGN +GARD:0011983,Orphanet,ORPHA:397596,Disorder,Disease,Activated PI3K-delta syndrome,APDS|Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation +GARD:0011984,Orphanet,ORPHA:29072,Disorder,Disease,Hereditary pheochromocytoma-paraganglioma,Familial pheochromocytoma-paraganglioma +GARD:0011985,Orphanet,ORPHA:99329,Disorder,Malformation syndrome,"48,XYYY syndrome", +GARD:0011992,Orphanet,ORPHA:306431,Disorder,Disease,Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,Acquired adult-onset immunodeficiency|Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies +GARD:0012008,Orphanet,ORPHA:141127,Disorder,Morphological anomaly,Congenital tracheal stenosis, +GARD:0012010,Orphanet,ORPHA:30391,Disorder,Morphological anomaly,Isolated biliary atresia,Isolated atresia of bile ducts|Non-syndromic biliary atresia +GARD:0012011,Orphanet,ORPHA:93114,Disorder,Disease,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,CMTDIE|Charcot-Marie-Tooth disease-nephropathy syndrome +GARD:0012015,Orphanet,ORPHA:247762,Disorder,Disease,Lipoblastoma, +GARD:0012016,Orphanet,ORPHA:252050,Disorder,Disease,Primary melanoma of the central nervous system,Malignant melanoma of meninges|Primary melanoma of the CNS +GARD:0012027,Orphanet,ORPHA:146,Disorder,Disease,Differentiated thyroid carcinoma,Papillary or follicular thyroid carcinoma|Well-differentiated thyroid carcinoma +GARD:0012032,Orphanet,ORPHA:95854,Disorder,Morphological anomaly,Levocardia,Isolated levocardia|Levocardia with situs inversus +GARD:0012033,Orphanet,ORPHA:607,Group of disorders,Clinical group,Nemaline myopathy,NEM|NM|Nemaline rod myopathy +GARD:0012036,Orphanet,ORPHA:85162,Disorder,Disease,Facial onset sensory and motor neuronopathy,FOSMN syndrome +GARD:0012048,Orphanet,ORPHA:97567,Disorder,Disease,Immunotactoid glomerulopathy,Immunotactoid glomerulonephritis +GARD:0012059,Orphanet,ORPHA:370933,Disorder,Disease,GM3 synthase deficiency,ST3GAL5-CDG +GARD:0012062,Orphanet,ORPHA:420556,Disorder,Disease,Visual snow syndrome, +GARD:0012074,Orphanet,ORPHA:141132,Disorder,Malformation syndrome,Oculo-auriculo-vertebral spectrum,OAV spectrum|Oculoauriculovertebral spectrum +GARD:0012076,Orphanet,ORPHA:96121,Disorder,Malformation syndrome,7q11.23 microduplication syndrome,Dup(7)(q11.23)|Trisomy 7q11.23 +GARD:0012085,Orphanet,ORPHA:2542,Group of disorders,Clinical group,Isolated microphthalmia-anophthalmia-coloboma,Isolated anophthalmia-microphthalmia syndrome +GARD:0012097,Orphanet,ORPHA:275761,Disorder,Disease,Lysosomal acid lipase deficiency,LAL deficiency +GARD:0012099,Orphanet,ORPHA:75234,Subtype of disorder,Clinical subtype,Cholesteryl ester storage disease,Cholesterol ester storage disease +GARD:0012107,Orphanet,ORPHA:178469,Subtype of disorder,Etiological subtype,Autosomal dominant non-syndromic intellectual disability, +GARD:0012109,Orphanet,ORPHA:33364,Disorder,Disease,Trichothiodystrophy, +GARD:0012117,Orphanet,ORPHA:2512,Subtype of disorder,Etiological subtype,Autosomal recessive primary microcephaly,MCPH|Microcephalia vera|Microcephaly vera|True microcephaly +GARD:0012123,Orphanet,ORPHA:294975,Disorder,Morphological anomaly,Congenital absence of upper arm and forearm with hand present,Humero-radio-ulnar intercalary transverse meromelia +GARD:0012124,Orphanet,ORPHA:158061,Disorder,Clinical syndrome,Macrophage activation syndrome, +GARD:0012125,Orphanet,ORPHA:289666,Disorder,Disease,Plasmablastic lymphoma,PBL +GARD:0012128,Orphanet,ORPHA:79282,Subtype of disorder,Clinical subtype,"Methylmalonic acidemia with homocystinuria, type cblC","CblC defect|Cobalamin C defect|Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC|Methylmalonic aciduria with homocystinuria, type cblC" +GARD:0012144,Orphanet,ORPHA:255,Group of disorders,Clinical group,Dopa-responsive dystonia,HPD with diurnal fluctuation|Hereditary progressive dystonia with diurnal fluctuation +GARD:0012162,Orphanet,ORPHA:97239,Disorder,Disease,Reducing body myopathy, +GARD:0012163,Orphanet,ORPHA:209905,Disorder,Disease,Brain-lung-thyroid syndrome,Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome +GARD:0012166,Orphanet,ORPHA:228384,Disorder,Malformation syndrome,5q14.3 microdeletion syndrome,Del(5)(q14.3)|Monosomy 5q14.3 +GARD:0012173,Orphanet,ORPHA:505652,Disorder,Disease,CDKL5-deficiency disorder,CDD +GARD:0012185,Orphanet,ORPHA:65682,Disorder,Disease,Benign recurrent intrahepatic cholestasis,BRIC|Summerskill-Walshe-Tygstrup syndrome +GARD:0012199,Orphanet,ORPHA:439212,Disorder,Disease,Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,EMARDD +GARD:0012219,Orphanet,ORPHA:94065,Subtype of disorder,Etiological subtype,15q24 microdeletion syndrome,Del(15)(q24)|Monosomy 15q24 +GARD:0012232,Orphanet,ORPHA:284324,Disorder,Disease,Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,Autosomal recessive spinocerebellar ataxia type 7|SCAR7 +GARD:0012234,Orphanet,ORPHA:88644,Disorder,Disease,"Autosomal recessive ataxia, Beauce type",ARCA1|Autosomal recessive cerebellar ataxia type 1|SCAR8 +GARD:0012241,Orphanet,ORPHA:309015,Subtype of disorder,Etiological subtype,Familial lipoprotein lipase deficiency,LPL deficiency +GARD:0012244,Orphanet,ORPHA:363558,Disorder,Disease,New-onset refractory status epilepticus,NORSE +GARD:0012251,Orphanet,ORPHA:1885,Disorder,Malformation syndrome,Isolated ectopia lentis,Ectopia lentis syndrome|Familial ectopia lentis +GARD:0012257,Orphanet,ORPHA:300857,Disorder,Disease,T-cell/histiocyte rich large B cell lymphoma,THRLBCL +GARD:0012264,Orphanet,ORPHA:36383,Disorder,Disease,COL4A1-related familial vascular leukoencephalopathy,COL4A1-related brain small vessel disease with hemorrhage|COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome +GARD:0012267,Orphanet,ORPHA:88642,Disorder,Disease,Congenital insensitivity to pain-anosmia-neuropathic arthropathy,SCN9A-related congenital insensitivity to pain +GARD:0012280,Orphanet,ORPHA:226298,Group of disorders,Clinical group,Central congenital hypothyroidism,Secondary hypothyroidism +GARD:0012281,Orphanet,ORPHA:435988,Disorder,Disease,Chronic atrial and intestinal dysrhythmia syndrome,CAID syndrome|Chronic atrial dysrhythmia-intestinal motility disorder +GARD:0012291,Orphanet,ORPHA:48471,Group of disorders,Category,Lissencephaly, +GARD:0012299,Orphanet,ORPHA:75374,Disorder,Disease,Bradyopsia,PERRS|Prolonged electroretinal response suppression +GARD:0012300,Orphanet,ORPHA:280270,Disorder,Disease,Pelizaeus-Merzbacher-like disease,PMLD +GARD:0012301,Orphanet,ORPHA:614,Disorder,Disease,Thomsen and Becker disease,Myotonia congenita +GARD:0012308,Orphanet,ORPHA:293208,Disorder,Disease,Celiac artery compression syndrome,Dunbar syndrome|MALS|Median arcuate ligament syndrome +GARD:0012311,Orphanet,ORPHA:53690,Disorder,Disease,Congenital lactase deficiency, +GARD:0012312,Orphanet,ORPHA:85173,Disorder,Malformation syndrome,IMAGe syndrome,Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome +GARD:0012314,Orphanet,ORPHA:391487,Disorder,Disease,Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome, +GARD:0012315,Orphanet,ORPHA:404454,Disorder,Disease,Alacrimia-choreoathetosis-liver dysfunction syndrome,NGLY1 deficiency|NGLY1-CDDG +GARD:0012316,Orphanet,ORPHA:436159,Disorder,Disease,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,ALPS due to CTLA4 haploinsuffiency|CHAI|CTLA-4 haploinsufficiency with autoimmune infiltration disease +GARD:0012328,Orphanet,ORPHA:64752,Disorder,Disease,Hereditary sensory and autonomic neuropathy type 5,Congenital insensitivity to pain and thermal analgesia|HSAN5|Hereditary sensory and autonomic neuropathy type V +GARD:0012331,Orphanet,ORPHA:36204,Group of disorders,Clinical group,Intestinal lymphangiectasia, +GARD:0012335,Orphanet,ORPHA:213610,Disorder,Disease,Carcinosarcoma of the corpus uteri,Malignant mixed Müllerian tumor of the corpus uteri|Mixed Müllerian cancer of corpus uteri|Uterine carcinosarcoma +GARD:0012338,Orphanet,ORPHA:859,Disorder,Disease,Transcobalamin deficiency,Inherited deficiency of transcobalamin|Transcobalamin II deficiency +GARD:0012344,Orphanet,ORPHA:254367,Group of disorders,Category,Rare lichen planus,Rare LP +GARD:0012347,Orphanet,ORPHA:38874,Disorder,Disease,Dihydropyrimidinuria,Dihydropyrimidinase deficiency +GARD:0012348,Orphanet,ORPHA:263487,Disorder,Disease,COG5-CDG,CDG syndrome type IIi|CDG-IIi|CDG2I|Carbohydrate deficient glycoprotein syndrome type IIi|Congenital disorder of glycosylation type 2i|Congenital disorder of glycosylation type IIi +GARD:0012351,Orphanet+OMIM,OMIM:604370,Subtype of disorder,Disease subtype,"Breast-ovarian cancer, familial, susceptibility to, 1",Hboc1 +GARD:0012352,Orphanet+OMIM,OMIM:612555,Subtype of disorder,Disease subtype,"Breast-ovarian cancer, familial, susceptibility to, 2",Hboc2 +GARD:0012353,Orphanet,ORPHA:324442,Disorder,Disease,Autosomal recessive axonal neuropathy with neuromyotonia,ARAN-NM|ARCMT2-NM|Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia +GARD:0012354,Orphanet,ORPHA:93610,Subtype of disorder,Clinical subtype,Distal renal tubular acidosis with anemia,dRTA with anemia +GARD:0012356,Orphanet+OMIM,OMIM:615582,Subtype of disorder,Disease subtype,Loeys-dietz syndrome 5,Rienhoff syndrome +GARD:0012357,Orphanet,ORPHA:425120,Disorder,Disease,STING-associated vasculopathy with onset in infancy,SAVI +GARD:0012360,Orphanet,ORPHA:83642,Disorder,Disease,Microcytic anemia with liver iron overload, +GARD:0012362,Orphanet,ORPHA:251274,Disorder,Disease,Familial hyperaldosteronism type III,FH-III|FH3|Familial hyperaldosteronism type 3 +GARD:0012365,Orphanet,ORPHA:98772,Disorder,Disease,Spinocerebellar ataxia type 19/22,SCA19/22 +GARD:0012366,Orphanet,ORPHA:276193,Disorder,Disease,Spinocerebellar ataxia type 35,SCA35 +GARD:0012367,Orphanet,ORPHA:276198,Disorder,Disease,Spinocerebellar ataxia type 36,Asidan|SCA36 +GARD:0012368,Orphanet,ORPHA:363710,Disorder,Disease,Spinocerebellar ataxia type 37,SCA37|Spinocerebellar ataxia with altered vertical eye movements +GARD:0012369,Orphanet,ORPHA:423296,Disorder,Disease,Spinocerebellar ataxia type 38,SCA38 +GARD:0012371,Orphanet,ORPHA:423275,Disorder,Disease,Spinocerebellar ataxia type 40,SCA40 +GARD:0012372,Orphanet,ORPHA:314404,Disorder,Disease,Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,ADCA-DN syndrome|Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome +GARD:0012375,Orphanet,ORPHA:228000,Disorder,Biological anomaly,Idiopathic CD4 lymphocytopenia, +GARD:0012382,Orphanet,ORPHA:168593,Disorder,Malformation syndrome,Sudden infant death-dysgenesis of the testes syndrome,SIDDT +GARD:0012383,Orphanet,ORPHA:404553,Disorder,Disease,Vasculitis due to ADA2 deficiency,Vasculitis due to DADA2 +GARD:0012384,Orphanet,ORPHA:324561,Disorder,Disease,Hypopigmentation-punctate palmoplantar keratoderma syndrome,Cole disease|Guttate hypopigmentation and punctate palmoplantar keratoderma|Hypopigmentation and punctate keratosis of the palms and soles +GARD:0012385,Orphanet,ORPHA:137893,Subtype of disorder,Clinical subtype,Male infertility due to large-headed multiflagellar polyploid spermatozoa,Macrocephalic sperm head syndrome|Male infertility due to macrozoospermia +GARD:0012388,Orphanet,ORPHA:370079,Disorder,Malformation syndrome,Proximal 16p11.2 microduplication syndrome,Proximal dup(16)(p11.2)|Proximal trisomy 16p11.2 +GARD:0012390,Orphanet,ORPHA:37748,Disorder,Malformation syndrome,Schnitzler syndrome,Chronic urticaria with gammopathy|Chronic urticaria with macroglobulinemia +GARD:0012391,Orphanet+OMIM,OMIM:616056,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 26,"Epileptic encephalopathy, early infantile, 26" +GARD:0012393,Orphanet,ORPHA:91131,Disorder,Disease,DK1-CDG,CDG syndrome type Im|CDG-Im|CDG1M|Carbohydrate deficient glycoprotein syndrome type Im|Congenital disorder of glycosylation type 1m|Congenital disorder of glycosylation type Im|Dolichol kinase deficiency|Hypotonia and ichthyosis due to dolichol phosphate deficiency +GARD:0012394,Orphanet,ORPHA:244310,Disorder,Disease,RFT1-CDG,CDG syndrome type In|CDG-In|CDG1N|Carbohydrate deficient glycoprotein syndrome type In|Congenital disorder of glycosylation type 1n|Congenital disorder of glycosylation type In|Man5GlcNAc2-PP-Dol flippase deficiency +GARD:0012395,Orphanet,ORPHA:263494,Disorder,Disease,DPM3-CDG,CDG syndrome type Io|CDG-Io|CDG1O|Carbohydrate deficient glycoprotein syndrome type Io|Congenital disorder of glycosylation type 1o|Congenital disorder of glycosylation type Io +GARD:0012396,Orphanet,ORPHA:280071,Disorder,Disease,ALG11-CDG,CDG syndrome type Ip|CDG-Ip|CDG1P|Carbohydrate deficient glycoprotein syndrome type Ip|Congenital disorder of glycosylation type 1p|Congenital disorder of glycosylation type Ip +GARD:0012397,Orphanet,ORPHA:324737,Disorder,Disease,SRD5A3-CDG,CDG syndrome type Iq|CDG-Iq|CDG1Q|Congenital disorder of glycosylation type 1q|Congenital disorder of glycosylation type Iq +GARD:0012398,Orphanet,ORPHA:300536,Disorder,Disease,DDOST-CDG,CDG syndrome type Ir|CDG-Ir|CDG1R|Carbohydrate deficient glycoprotein syndrome type Ir|Congenital disorder of glycosylation type 1r|Congenital disorder of glycosylation type Ir +GARD:0012401,Orphanet,ORPHA:324422,Disorder,Disease,ALG13-CDG,CDG syndrome type Is|CDG-Is|CDG1S|Congenital disorder of glycosylation type 1s|Congenital disorder of glycosylation type Is +GARD:0012403,Orphanet,ORPHA:356961,Disorder,Disease,SLC35A2-CDG,CDG syndrome type IIm|CDG-IIm|CDG2M|Congenital disorder of glycosylation type 2m|Congenital disorder of glycosylation type IIm +GARD:0012404,Orphanet+OMIM,OMIM:615510,Subtype of disorder,Disease subtype,"Alacrima, achalasia, and mental retardation syndrome", +GARD:0012405,Orphanet,ORPHA:370927,Disorder,Disease,SSR4-CDG,CDG syndrome type Iy|CDG-Iy|CDG1Y|Carbohydrate deficient glycoprotein syndrome type Iy|Congenital disorder of glycosylation type 1y|Congenital disorder of glycosylation type Iy +GARD:0012409,Orphanet,ORPHA:238459,Disorder,Disease,SLC35A1-CDG,CDG syndrome type IIf|CDG-IIf|CDG2F|CMP-sialic acid transporter deficiency|Carbohydrate deficient glycoprotein syndrome type IIf|Congenital disorder of glycosylation type 2f|Congenital disorder of glycosylation type IIf +GARD:0012411,Orphanet,ORPHA:95428,Disorder,Disease,COG8-CDG,CDG syndrome type IIh|CDG-IIh|CDG2H|Carbohydrate deficient glycoprotein syndrome type IIh|Congenital disorder of glycosylation type 2h|Congenital disorder of glycosylation type IIh +GARD:0012412,Orphanet,ORPHA:263501,Disorder,Disease,COG4-CDG,CDG syndrome type IIj|CDG-IIj|CDG2J|Carbohydrate deficient glycoprotein syndrome type IIj|Congenital disorder of glycosylation type 2j|Congenital disorder of glycosylation type IIj +GARD:0012413,Orphanet,ORPHA:314667,Disorder,Disease,TMEM165-CDG,CDG syndrome type IIk|CDG-IIk|CDG2K|Carbohydrate deficient glycoprotein syndrome type IIk|Congenital disorder of glycosylation type 2k|Congenital disorder of glycosylation type IIk +GARD:0012416,Orphanet,ORPHA:329178,Disorder,Disease,Congenital muscular dystrophy with intellectual disability and severe epilepsy,CDG syndrome type Iu|CDG-Iu|CDG1U|CMD with intellectual disability and severe epilepsy|Carbohydrate deficient glycoprotein syndrome type Iu|Congenital disorder of glycosylation type 1u|Congenital disorder of glycosylation type Iu|DPM2-CDG +GARD:0012417,Orphanet,ORPHA:397941,Disorder,Disease,MAN1B1-CDG,Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency|Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency|Congenital disorder of glycosylation type II due to MAN1B1 deficiency|Intellectual disability-truncal obesity syndrome +GARD:0012421,Orphanet,ORPHA:263775,Group of disorders,Category,Partial duplication of the short arm of chromosome X,Partial duplication of chromosome Xp|Partial trisomy of chromosome Xp|Partial trisomy of the short arm of chromosome X +GARD:0012426,Orphanet,ORPHA:1229,Disorder,Malformation syndrome,Congenital intrauterine infection-like syndrome,BLC-PMG|Baraitser-Brett-Piesowicz syndrome|Baraitser-Reardon syndrome|Bilateral band-like calcification with polymicrogyria|Microcephaly-intracranial calcification-intellectual disability syndrome|Pseudo-TORCH syndrome +GARD:0012428,Orphanet,ORPHA:280779,Disorder,Disease,Cutaneous collagenous vasculopathy,CCV +GARD:0012429,Orphanet,ORPHA:228174,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2N,CMT2N +GARD:0012431,Orphanet,ORPHA:64746,Group of disorders,Clinical group,Autosomal dominant Charcot-Marie-Tooth disease type 2,Autosomal dominant axonal Charcot-Marie-Tooth disease|CMT2|Hereditary motor and sensory neuropathy type 2 +GARD:0012432,Orphanet,ORPHA:99945,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2L,CMT2L +GARD:0012433,Orphanet,ORPHA:65753,Group of disorders,Clinical group,Charcot-Marie-Tooth disease type 1,Autosomal dominant demyelinating Charcot-Marie-Tooth disease|CMT1|Charcot-Marie-Tooth neuropathy type 1|Hereditary motor and sensory neuropathy type 1 +GARD:0012434,Orphanet,ORPHA:284232,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2O,CMT2O +GARD:0012435,Orphanet,ORPHA:300319,Disorder,Disease,Charcot-Marie-Tooth disease type 2P,CMT2P +GARD:0012436,Orphanet,ORPHA:90114,Group of disorders,Clinical group,Autosomal dominant intermediate Charcot-Marie-Tooth disease,CMTDI +GARD:0012437,Orphanet,ORPHA:100043,Disorder,Disease,Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,CMTDIA +GARD:0012438,Orphanet,ORPHA:100044,Disorder,Disease,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,CMTDIB +GARD:0012439,Orphanet,ORPHA:100045,Disorder,Disease,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,CMTDIC +GARD:0012440,Orphanet,ORPHA:64749,Group of disorders,Clinical group,Charcot-Marie-Tooth disease type 4,AR-CMT1|Autosomal recessive demyelinating Charcot-Marie-Tooth|CMT4 +GARD:0012441,Orphanet,ORPHA:99952,Disorder,Disease,Charcot-Marie-Tooth disease type 4F,CMT4F +GARD:0012442,Orphanet,ORPHA:99954,Disorder,Disease,Charcot-Marie-Tooth disease type 4H,CMT4H +GARD:0012443,Orphanet,ORPHA:139515,Disorder,Disease,Charcot-Marie-Tooth disease type 4J,CMT4J +GARD:0012444,Orphanet,ORPHA:64747,Group of disorders,Clinical group,X-linked Charcot-Marie-Tooth disease,CMTX|X-linked hereditary motor and sensory neuropathy +GARD:0012445,Orphanet,ORPHA:352675,Disorder,Disease,X-linked Charcot-Marie-Tooth disease type 6,CMT6X|CMTX6 +GARD:0012446,Orphanet,ORPHA:329258,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2Q,CMT2Q +GARD:0012447,Orphanet,ORPHA:401964,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons|CMT2 with giant axons|HMSN2 with giant axons +GARD:0012448,Orphanet,ORPHA:101097,Disorder,Disease,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,ARCMT2K|Autosomal recessive axonal CMT4C4|Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K +GARD:0012449,Orphanet,ORPHA:91024,Group of disorders,Clinical group,Autosomal recessive axonal hereditary motor and sensory neuropathy,AR-CMT2|Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 +GARD:0012451,Orphanet,ORPHA:397968,Disorder,Disease,Charcot-Marie-Tooth disease type 2R,CMT2R +GARD:0012452,Orphanet,ORPHA:268337,Group of disorders,Clinical group,Autosomal recessive intermediate Charcot-Marie-Tooth disease,RI-CMT +GARD:0012453,Orphanet,ORPHA:217055,Disorder,Disease,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,RI-CMT type A +GARD:0012454,Orphanet,ORPHA:254334,Disorder,Disease,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,RI-CMT type B +GARD:0012458,Orphanet,ORPHA:251370,Disorder,Disease,Sickle cell-hemoglobin D disease syndrome,HbSD disease +GARD:0012459,Orphanet,ORPHA:251355,Group of disorders,Category,Sickle cell disease associated with another hemoglobin anomaly,Double heterozygotes sickling disorder +GARD:0012469,Orphanet,ORPHA:35706,Disorder,Disease,Glutaric acidemia type 3,Glutaric aciduria type 3|Glutaryl-CoA oxidase deficiency +GARD:0012470,Orphanet,ORPHA:79188,Group of disorders,Category,Peroxisomal beta-oxidation disorder, +GARD:0012471,Orphanet,ORPHA:163684,Disorder,Disease,Leukoencephalopathy-dystonia-motor neuropathy syndrome, +GARD:0012472,Orphanet,ORPHA:369942,Disorder,Disease,CADDS,Contiguous ABCD1 DXS1357E deletion syndrome|Zellweger-like contiguous gene deletion syndrome +GARD:0012474,Orphanet,ORPHA:75392,Disorder,Disease,Periodontal Ehlers-Danlos syndrome,"EDS VIII|Ehlers-Danlos syndrome type 8|Ehlers-Danlos syndrome, periodontitis type|Periodontal EDS|pEDS" +GARD:0012476,Orphanet,ORPHA:309810,Group of disorders,Category,"Disorder of peroxisomal alpha-, beta- and omega-oxidation", +GARD:0012478,Orphanet,ORPHA:36355,Disorder,Disease,Bleeding disorder due to P2Y12 defect,Bleeding disorder due to ADP platelet receptor P2Y12 defect +GARD:0012480,Orphanet,ORPHA:96055,Disorder,Malformation syndrome,Tetrasomy 21,Isochromosome 21 +GARD:0012483,Orphanet,ORPHA:99098,Disorder,Morphological anomaly,Cor triatriatum dexter,Cor triatriatum dextrum|Divided right atrium +GARD:0012484,Orphanet,ORPHA:99099,Disorder,Morphological anomaly,Cor triatriatum sinister,Cor triatriatum sinistrum|Divided left atrium +GARD:0012486,Orphanet,ORPHA:52055,Disorder,Malformation syndrome,Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,Graham-Cox syndrome +GARD:0012487,Orphanet,ORPHA:1495,Disorder,Malformation syndrome,Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome,Da Silva syndrome +GARD:0012491,Orphanet,ORPHA:452,Disorder,Malformation syndrome,X-linked lissencephaly with abnormal genitalia,X-linked lissencephaly with ambiguous genitalia|X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|XLAG (X-linked lissencephaly with abnormal genitalia) syndrome +GARD:0012492,Orphanet,ORPHA:261295,Disorder,Malformation syndrome,20p12.3 microdeletion syndrome,Del(20)(p12.3)|Monosomy 20p12.3 +GARD:0012494,Orphanet,ORPHA:178345,Disorder,Disease,Aromatase excess syndrome,AEXS|Familial hyperestrogenism|Hereditary prepubertal gynecomastia +GARD:0012501,Orphanet,ORPHA:391372,Disorder,Malformation syndrome,Intellectual disability-severe speech delay-mild dysmorphism syndrome,FOXP1 syndrome +GARD:0012502,Orphanet,ORPHA:171709,Subtype of disorder,Clinical subtype,Male infertility due to globozoospermia,Male infertility due to round-headed spermatozoa|Round-headed sperm syndrome +GARD:0012503,Orphanet,ORPHA:309252,Subtype of disorder,Clinical subtype,Atypical Gaucher disease due to saposin C deficiency, +GARD:0012504,Orphanet,ORPHA:2072,Subtype of disorder,Clinical subtype,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Cardiovascular Gaucher disease|Gaucher disease type 3C|Gaucher-like disease +GARD:0012505,Orphanet,ORPHA:139406,Disorder,Disease,Encephalopathy due to prosaposin deficiency,Combined prosaposin deficiency +GARD:0012510,Orphanet,ORPHA:309144,Group of disorders,Category,Gangliosidosis, +GARD:0012511,Orphanet,ORPHA:79204,Group of disorders,Category,Lipid storage disease, +GARD:0012513,Orphanet,ORPHA:399786,Group of disorders,Category,Male infertility with spermatogenesis disorder due to single gene mutation, +GARD:0012521,Orphanet,ORPHA:284264,Group of disorders,Clinical group,IgG4-related disease,IgG4-related sclerosing disease|Immunoglobulin G4-related sclerosing disease +GARD:0012524,Orphanet,ORPHA:275543,Disorder,Malformation syndrome,L1 syndrome,CRASH syndrome|Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome|L1CAM syndrome +GARD:0012525,Orphanet,ORPHA:306617,Subtype of disorder,Clinical subtype,X-linked complicated spastic paraplegia type 1,SPG1 +GARD:0012526,Orphanet,ORPHA:1497,Subtype of disorder,Clinical subtype,X-linked complicated corpus callosum dysgenesis, +GARD:0012528,Orphanet,ORPHA:34516,Disorder,Disease,DNAJB6-related limb-girdle muscular dystrophy D1,Autosomal dominant limb-girdle muscular dystrophy type 1D|DNAJB6-related LGMD D1|LGMD type 1D|LGMD1D|Limb-girdle muscular dystrophy type 1D +GARD:0012530,Orphanet,ORPHA:55595,Disorder,Disease,TNP03-related limb-girdle muscular dystrophy D2,Autosomal dominant limb-girdle muscular dystrophy type 1F|LGMD type 1F|LGMD1F|Limb-girdle muscular dystrophy type 1F +GARD:0012531,Orphanet,ORPHA:55596,Disorder,Disease,HNRNPDL-related limb-girdle muscular dystrophy D3,Autosomal dominant limb-girdle muscular dystrophy type 1G|HNRNPDL-related LGMD D3|LGMD type 1G|LGMD1G|Limb-girdle muscular dystrophy type 1G +GARD:0012532,Orphanet,ORPHA:238755,Disorder,Disease,Autosomal dominant limb-girdle muscular dystrophy type 1H,LGMD1H +GARD:0012533,Orphanet,ORPHA:34515,Disorder,Disease,FKRP-related limb-girdle muscular dystrophy R9,Autosomal recessive limb-girdle muscular dystrophy type 2I|FKRP-related LGMD R9|LGMD due to FKRP deficiency|LGMD type 2I|LGMD2I|Limb-girdle muscular dystrophy due to FKRP deficiency|Limb-girdle muscular dystrophy type 2I +GARD:0012534,Orphanet,ORPHA:140922,Disorder,Disease,Titin-related limb-girdle muscular dystrophy R10,Autosomal recessive limb-girdle muscular dystrophy type 2J|LGMD type 2J|LGMD2J|Limb-girdle muscular dystrophy type 2J|Titin-related LGMD R10 +GARD:0012535,Orphanet,ORPHA:86812,Disorder,Disease,POMT1-related limb-girdle muscular dystrophy R11,Autosomal recessive limb-girdle muscular dystrophy type 2K|LGMD type 2K|LGMD2K|Limb-girdle muscular dystrophy type 2K|Limb-girdle muscular dystrophy-intellectual disability syndrome|POMT1-related LGMD R11 +GARD:0012536,Orphanet,ORPHA:206549,Disorder,Disease,Anoctamin-5-related limb-girdle muscular dystrophy R12,Anoctamin-5-related LGMD R12|Autosomal recessive limb-girdle muscular dystrophy type 2L|LGMD type 2L|LGMD2L|Limb-girdle muscular dystrophy type 2L +GARD:0012538,Orphanet,ORPHA:206554,Disorder,Disease,Fukutin-related limb-girdle muscular dystrophy R13,Autosomal recessive LGMD type 2M|Autosomal recessive limb-girdle muscular dystrophy type 2M|Fukutin-related LGMD R13|LGMD type 2M|LGMD2M +GARD:0012539,Orphanet,ORPHA:206559,Disorder,Disease,POMT2-related limb-girdle muscular dystrophy R14,Autosomal recessive limb-girdle muscular dystrophy type 2N|LGMD type 2N|LGMD2N|Limb-girdle muscular dystrophy type 2N|POMT2-related LGMD R14 +GARD:0012540,Orphanet,ORPHA:206564,Disorder,Disease,POMGNT1-related limb-girdle muscular dystrophy R15,Autosomal recessive limb-girdle muscular dystrophy type 2O|LGMD type 2O|LGMD2O|Limb-girdle muscular dystrophy type 2O|POMGNT1-related LGMD R15 +GARD:0012541,Orphanet,ORPHA:280333,Disorder,Disease,Alpha-dystroglycan-related limb-girdle muscular dystrophy R16,Alpha-dystroglycan-related LGMD R16|Autosomal recessive limb-girdle muscular dystrophy type 2P|LGMD type 2P|LGMD2P|Limb-girdle muscular dystrophy type 2P +GARD:0012542,Orphanet,ORPHA:254361,Disorder,Disease,Plectin-related limb-girdle muscular dystrophy R17,Autosomal recessive limb-girdle muscular dystrophy type 2Q|LGMD type 2Q|LGMD2Q|Limb-girdle muscular dystrophy type 2Q|Plectin-related LGMD R17 +GARD:0012543,Orphanet,ORPHA:369840,Disorder,Disease,TRAPPC11-related limb-girdle muscular dystrophy R18,Autosomal recessive limb-girdle muscular dystrophy type 2S|LGMD type 2S|LGMD2S|Limb-girdle muscular dystrophy type 2S|TRAPPC11-related LGMD R18 +GARD:0012544,Orphanet,ORPHA:363623,Disorder,Disease,GMPPB-related limb-girdle muscular dystrophy R19,Autosomal recessive limb-girdle muscular dystrophy type 2T|GMPPB-related LGMD R19|LGMD type 2T|LGMD2T|Limb-girdle muscular dystrophy type 2T +GARD:0012547,Orphanet,ORPHA:331235,Disorder,Disease,Selective IgM deficiency,Selective immunoglobulin M deficiency +GARD:0012550,Orphanet,ORPHA:289465,Disorder,Disease,Isolated congenital adermatoglyphia,Congenital absence of fingerprints|Immigration delay disease +GARD:0012551,Orphanet,ORPHA:238722,Disorder,Disease,Familial congenital mirror movements,Familial congenital controlateral synkinesia|Hereditary congenital controlateral synkinesia|Hereditary congenital mirror movements|Isolated congenital controlateral synkinesia|Isolated congenital mirror movements +GARD:0012556,Orphanet,ORPHA:631,Disorder,Disease,Non-acquired isolated growth hormone deficiency,Congenital IGHD|Congenital isolated GH deficiency|Congenital isolated growth hormone deficiency +GARD:0012558,Orphanet+OMIM,OMIM:612621,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 5","Mental retardation, autosomal dominant 5" +GARD:0012559,Orphanet,ORPHA:93473,Subtype of disorder,Clinical subtype,Hurler syndrome,Hurler disease|MPS1H|MPSIH|Mucopolysaccharidosis type 1H|Mucopolysaccharidosis type IH +GARD:0012560,Orphanet,ORPHA:93476,Subtype of disorder,Clinical subtype,Hurler-Scheie syndrome,MPS1H/S|MPSIH/S|Mucopolysaccharidosis type 1H/S|Mucopolysaccharidosis type IH/S +GARD:0012561,Orphanet,ORPHA:93474,Subtype of disorder,Clinical subtype,Scheie syndrome,MPS1S|MPSIS|Mucopolysaccharidosis type 1S|Mucopolysaccharidosis type IS +GARD:0012562,Orphanet,ORPHA:582,Disorder,Disease,Mucopolysaccharidosis type 4,MPS4|MPSIV|Morquio disease|Mucopolysaccharidosis type IV +GARD:0012567,Orphanet,ORPHA:329303,Group of disorders,Clinical group,PLA2G6-associated neurodegeneration,PLAN +GARD:0012568,Orphanet,ORPHA:199351,Disorder,Disease,Adult-onset dystonia-parkinsonism,"Dystonia-parkinsonism, Paisan-Ruiz type|PARK14|PLA2G6-related dystonia-parkinsonism" +GARD:0012569,Orphanet,ORPHA:289560,Disorder,Disease,Mitochondrial membrane protein-associated neurodegeneration,MPAN|NBIA due to C19orf12 mutation|NBIA4|Neurodegeneration with brain iron accumulation due to C19orf12 mutation|Neurodegeneration with brain iron accumulation type 4 +GARD:0012570,Orphanet,ORPHA:329284,Disorder,Disease,Beta-propeller protein-associated neurodegeneration,BPAN|NBIA5|Neurodegeneration with brain iron accumulation type 5|SENDA|Static encephalopathy of childhood with neurodegeneration in adulthood +GARD:0012571,Orphanet,ORPHA:397725,Disorder,Disease,COASY protein-associated neurodegeneration,CoPAN|NBIA6|Neurodegeneration with brain iron accumulation due to COASY mutation +GARD:0012584,Orphanet,ORPHA:370953,Group of disorders,Category,Congenital muscular dystrophy due to dystroglycanopathy,CMD due to dystroglycanopathy +GARD:0012585,Orphanet,ORPHA:157973,Disorder,Disease,Congenital muscular dystrophy due to LMNA mutation,L-CMD|LMNA-related congenital muscular dystrophy +GARD:0012586,Orphanet,ORPHA:98893,Disorder,Disease,Congenital muscular dystrophy type 1B,CMD1B|MDC1B +GARD:0012587,Orphanet,ORPHA:34520,Disorder,Disease,Congenital muscular dystrophy with integrin alpha-7 deficiency,Congenital muscular dystrophy with ITGA7 deficiency +GARD:0012588,Orphanet,ORPHA:352687,Group of disorders,Clinical group,Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies,Lissencephaly type 2 with muscular and ocular involvement|MDDGA +GARD:0012590,Orphanet,ORPHA:45358,Disorder,Disease,Congenital fibrosis of extraocular muscles,FEOM +GARD:0012591,Orphanet,ORPHA:178464,Disorder,Disease,Hereditary myopathy with early respiratory failure,Edström Myopathy|HIBM-ERF|HMERF|Hereditary inclusion body myopathy with early respiratory failure|MFM-titinopathy|Myofibrillar myopathy with early respiratory failure|Myofibrillar myopathy-titinopathy +GARD:0012592,Orphanet,ORPHA:98897,Disorder,Disease,Oculopharyngodistal myopathy,OPDM|Oculopharyngeal distal myopathy +GARD:0012596,Orphanet,ORPHA:90970,Group of disorders,Category,Primary lipodystrophy, +GARD:0012597,Orphanet,ORPHA:98305,Group of disorders,Category,Genetic lipodystrophy, +GARD:0012598,Orphanet,ORPHA:79084,Disorder,Disease,"Familial partial lipodystrophy, Köbberling type",FPLD1|Familial partial lipodystrophy type 1 +GARD:0012599,Orphanet,ORPHA:79085,Disorder,Disease,AKT2-related familial partial lipodystrophy,AKT2-related FPLD +GARD:0012600,Orphanet,ORPHA:79083,Disorder,Disease,PPARG-related familial partial lipodystrophy,FPLD3|Familial partial lipodystrophy type 3|PPARG-related FPLD +GARD:0012601,Orphanet,ORPHA:280356,Disorder,Disease,PLIN1-related familial partial lipodystrophy,FPLD4|PLIN1-related FPLD +GARD:0012602,Orphanet,ORPHA:98307,Group of disorders,Category,Acquired lipodystrophy, +GARD:0012603,Orphanet,ORPHA:79086,Disorder,Disease,Acquired generalized lipodystrophy,Acquired lipoatrophic diabetes|Lawrence syndrome|Lawrence-Seip syndrome +GARD:0012604,Orphanet,ORPHA:1979,Disorder,Disease,Lipodystrophy due to peptidic growth factors deficiency,"Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency|Hoepffner-Dreyer-Reimers syndrome|Werner-like syndrome due to combined growth factor deficiency" +GARD:0012610,Orphanet,ORPHA:157965,Subtype of disorder,Clinical subtype,SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,SCD-EDS|SLC39A13-related spEDS|SLC39A13-related spondylodysplastic EDS|Spondylocheirodysplastic Ehlers-Danlos syndrome|spEDS-SLC39A13 +GARD:0012613,Orphanet,ORPHA:230851,Disorder,Disease,Cardiac-valvular Ehlers-Danlos syndrome,Cardiac-valvular EDS|cvEDS +GARD:0012621,Orphanet,ORPHA:369955,Subtype of disorder,Clinical subtype,"Methylmalonic acidemia with homocystinuria, type cblJ","CblJ defects|Cobalamin J defect|Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ|Methylmalonic aciduria with homocystinuria, type cblJ" +GARD:0012623,Orphanet,ORPHA:28,Disorder,Disease,Vitamin B12-responsive methylmalonic acidemia,Adenosylcobalamin deficiency|Vitamin B12-responsive methylmalonic aciduria +GARD:0012631,Orphanet,ORPHA:140917,Disorder,Malformation syndrome,Stapes ankylosis with broad thumbs and toes,Teunissen-Cremers syndrome +GARD:0012632,Orphanet,ORPHA:289573,Group of disorders,Clinical group,Multiple mitochondrial dysfunctions syndrome, +GARD:0012635,Orphanet,ORPHA:2377,Disorder,Malformation syndrome,Laurence-Moon syndrome, +GARD:0012638,Orphanet,ORPHA:183713,Disorder,Disease,Bacterial susceptibility due to TLR signaling pathway deficiency, +GARD:0012640,Orphanet,ORPHA:306542,Disorder,Malformation syndrome,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,ALX1-related frontonasal dysplasia|Frontonasal dysplasia type 3 +GARD:0012641,Orphanet,ORPHA:228390,Disorder,Malformation syndrome,Frontonasal dysplasia-alopecia-genital anomalies syndrome,ALX4-related FNDAG|Craniofrontonasal dysplasia with alopecia and hypogonadism|Frontonasal dysplasia type 2|Frontonasal dysplasia with alopecia and genital abnomality +GARD:0012642,Orphanet,ORPHA:391474,Disorder,Malformation syndrome,Frontorhiny,ALX3-related frontonasal dysplasia|Frontonasal dysplasia type 1|Isolated median cleft face syndrome +GARD:0012643,Orphanet,ORPHA:294965,Group of disorders,Clinical group,Lethal congenital contracture syndrome,LCCS +GARD:0012644,Orphanet,ORPHA:137783,Disorder,Malformation syndrome,Lethal congenital contracture syndrome type 3,LCCS3 +GARD:0012645,Orphanet+OMIM,OMIM:614915,Subtype of disorder,Malformation syndrome subtype,Lethal congenital contracture syndrome 4, +GARD:0012648,Orphanet,ORPHA:91489,Disorder,Morphological anomaly,Isolated congenital megalocornea,Congenital anterior megalophthalmia +GARD:0012650,Orphanet,ORPHA:68,Disorder,Disease,Amoebiasis due to free-living amoebae, +GARD:0012652,Orphanet,ORPHA:137898,Disorder,Disease,Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,LBSL|Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome +GARD:0012653,Orphanet,ORPHA:447737,Disorder,Disease,DOCK2 deficiency, +GARD:0012656,Orphanet,ORPHA:160,Disorder,Disease,Castleman disease,Angiofollicular ganglionic hyperplasia|Angiofollicular lymph hyperplasia +GARD:0012662,Orphanet,ORPHA:141189,Group of disorders,Clinical group,Cerebrofacial arteriovenous metameric syndrome,CAMS +GARD:0012663,Orphanet,ORPHA:156230,Group of disorders,Clinical group,Facial arteriovenous malformation, +GARD:0012664,Orphanet,ORPHA:95699,Disorder,Disease,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,Congenital adrenal hyperplasia due to cytochrome POR deficiency|POR deficiency|PORD +GARD:0012665,Orphanet,ORPHA:90794,Disorder,Disease,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Classic 21-OHD CAH +GARD:0012669,Orphanet,ORPHA:163937,Disorder,Disease,"X-linked intellectual disability, Najm type",MICPCH|X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome +GARD:0012673,Orphanet,ORPHA:254395,Disorder,Disease,Actinic lichen planus,Actinic LP|Lichen planus actinus|Lichen planus subtropicus|Lichen planus tropicus|Lichenoid melanodermatitis|Summertime actinic lichenoid eruption +GARD:0012674,Orphanet,ORPHA:254424,Disorder,Disease,Annular lichen planus,Annular LP +GARD:0012675,Orphanet,ORPHA:254449,Disorder,Disease,Atrophic lichen planus,Atrophic LP +GARD:0012676,Orphanet,ORPHA:254411,Disorder,Disease,Annular atrophic lichen planus,Annular atrophic LP +GARD:0012677,Orphanet,ORPHA:254478,Disorder,Disease,Lichen planus pemphigoides,LP pemphigoides +GARD:0012678,Orphanet,ORPHA:401859,Disorder,Disease,Lipoic acid synthetase deficiency, +GARD:0012679,Orphanet,ORPHA:401854,Group of disorders,Category,Lipoic acid biosynthesis defect,Lipoate biosynthesis defect +GARD:0012680,Orphanet,ORPHA:401862,Disorder,Disease,Lipoyl transferase 1 deficiency, +GARD:0012681,Orphanet,ORPHA:401866,Disorder,Disease,Childhood-onset spasticity with hyperglycinemia,Childhood-onset spasticity with variant non-ketotic hyperglycinemia|Spasticity-ataxia-gait anomalies syndrome +GARD:0012682,Orphanet,ORPHA:2744,Disorder,Disease,Horizontal gaze palsy with progressive scoliosis,HGPPS|Progressive external ophthalmoplegia and scoliosis +GARD:0012683,Orphanet,ORPHA:53739,Group of disorders,Clinical group,Distal hereditary motor neuropathy,Distal spinal muscular atrophy|dHMN|dSMA +GARD:0012684,Orphanet,ORPHA:391384,Disorder,Disease,Familial episodic pain syndrome,FEPS +GARD:0012686,Orphanet,ORPHA:79456,Disorder,Disease,Diffuse cutaneous mastocytosis,DCM|Diffuse cutaneous maculopapulous mastocytosis +GARD:0012687,Orphanet,ORPHA:79455,Disorder,Disease,Cutaneous mastocytoma,Cutaneous local mastocytoma|Multiple mastocytoma|Solitary mastocytoma +GARD:0012688,Orphanet,ORPHA:140471,Group of disorders,Clinical group,Hereditary sensory and autonomic neuropathy,HSAN +GARD:0012697,Orphanet,ORPHA:252057,Group of disorders,Category,Tumor of cranial and spinal nerves,Rare tumor of cranial and spinal nerves +GARD:0012698,Orphanet,ORPHA:85102,Group of disorders,Clinical group,Perineurioma, +GARD:0012703,Orphanet,ORPHA:2764,Disorder,Disease,Osteochondritis dissecans,König disease +GARD:0012704,Orphanet,ORPHA:399319,Group of disorders,Category,Osteochondrosis, +GARD:0012706,Orphanet,ORPHA:617440,Disorder,Clinical syndrome,Painful legs and moving toes syndrome,PLMT syndrome +GARD:0012713,Orphanet,ORPHA:137932,Disorder,Malformation syndrome,Congenital laryngeal palsy,Congenital vocal cord paralysis +GARD:0012715,Orphanet,ORPHA:457260,Disorder,Disease,X-linked intellectual disability-hypotonia-movement disorder syndrome, +GARD:0012716,Orphanet,ORPHA:228240,Disorder,Disease,Elastoderma, +GARD:0012718,Orphanet,ORPHA:169186,Disorder,Disease,Autosomal recessive centronuclear myopathy,AR-CNM +GARD:0012719,Orphanet,ORPHA:169189,Disorder,Disease,Autosomal dominant centronuclear myopathy,AD-CNM +GARD:0012720,Orphanet,ORPHA:97232,Disorder,Disease,Fingerprint body myopathy, +GARD:0012722,Orphanet,ORPHA:324588,Disorder,Disease,Familial dyskinesia and facial myokymia,FDFM +GARD:0012724,Orphanet,ORPHA:98892,Subtype of disorder,Clinical subtype,Periventricular nodular heterotopia,PVNH +GARD:0012731,Orphanet,ORPHA:139583,Disorder,Disease,X-linked hereditary sensory and autonomic neuropathy with deafness,X-linked HSAN with deafness|X-linked HSAN with hearing loss|X-linked auditory neuropathy with peripheral sensory neuropathy type 1|X-linked hereditary sensory and autonomic neuropathy with hearing loss +GARD:0012732,Orphanet,ORPHA:391397,Disorder,Disease,Hereditary sensory and autonomic neuropathy type 7,CIP with hyperhidrosis and gastrointestinal dysfunction|Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction|HSAN with hyperhidrosis and gastrointestinal dysfunction|HSAN7|Hereditary sensory and autonomic neuropathy type VII|Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction +GARD:0012733,Orphanet,ORPHA:207015,Group of disorders,Category,Rare hereditary disease with peripheral neuropathy, +GARD:0012736,Orphanet,ORPHA:93548,Group of disorders,Category,Glomerular disease, +GARD:0012740,Orphanet,ORPHA:97566,Disorder,Disease,Non-amyloid fibrillary glomerulopathy,Congo red-negative amyloidosis-like glomerulopathy|Non-amyloid fibrillary glomerulonephritis +GARD:0012741,Orphanet,ORPHA:91137,Group of disorders,Clinical group,Immunotactoid or fibrillary glomerulopathy,Immunotactoid or fibrillary glomerulonephritis +GARD:0012742,Orphanet,ORPHA:93568,Disorder,Disease,Juvenile polymyositis,Juvenile PM +GARD:0012744,Orphanet,ORPHA:2978,Disorder,Clinical syndrome,Chronic intestinal pseudoobstruction,CIPO +GARD:0012749,Orphanet,ORPHA:171622,Disorder,Disease,Autosomal recessive spastic paraplegia type 32,SPG32 +GARD:0012757,Orphanet,ORPHA:519,Group of disorders,Clinical group,Acute myeloid leukemia,AML|Acute myelogenous leukemia +GARD:0012758,Orphanet,ORPHA:98277,Group of disorders,Category,Acute myeloid leukemia with recurrent genetic anomaly,AML with recurrent genetic anomaly +GARD:0012759,Orphanet,ORPHA:402020,Disorder,Disease,Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2),AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) +GARD:0012760,Orphanet,ORPHA:167714,Group of disorders,Category,Unclassified acute myeloid leukemia,Unclassified AML +GARD:0012761,Orphanet,ORPHA:86845,Disorder,Disease,Acute myeloid leukaemia with myelodysplasia-related features,AML with multilineage dysplasia|AML with myelodysplasia-related features|Acute myeloid leukemia with multilineage dysplasia +GARD:0012762,Orphanet,ORPHA:86846,Group of disorders,Category,Therapy related acute myeloid leukemia and myelodysplastic syndrome,Secondary AML|Secondary acute myeloid leukemia|Therapy-related AML and myelodysplastic syndrome +GARD:0012763,Orphanet,ORPHA:86850,Disorder,Disease,Myeloid sarcoma,Chloroma|Extramedullary myeloid tumor|Granulocytic sarcoma +GARD:0012765,Orphanet,ORPHA:420611,Disorder,Disease,Transient myeloproliferative syndrome,TMD|Transient abnormal myelopoiesis|Transient myeloproliferative disease +GARD:0012766,Orphanet,ORPHA:217377,Disorder,Malformation syndrome,Microduplication Xp11.22p11.23 syndrome,Dup(X)(p11.22p11.23)|Trisomy Xp11.22p11.23 +GARD:0012768,Orphanet,ORPHA:284388,Disorder,Clinical syndrome,Reversible cerebral vasoconstriction syndrome,RCVS +GARD:0012772,Orphanet,ORPHA:180257,Group of disorders,Category,Rare malignant breast tumor,Rare breast cancer +GARD:0012773,Orphanet,ORPHA:213528,Disorder,Disease,Rare adenocarcinoma of the breast, +GARD:0012774,Orphanet,ORPHA:213557,Disorder,Disease,Salivary gland type cancer of the breast,Salivary gland type carcinoma of the breast +GARD:0012775,Orphanet,ORPHA:180253,Group of disorders,Category,Rare benign breast tumor, +GARD:0012777,Orphanet,ORPHA:300496,Disorder,Malformation syndrome,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,MCAHS type 2 +GARD:0012779,Orphanet,ORPHA:284247,Disorder,Malformation syndrome,Familial retinal arterial macroaneurysm,FRAM|Retinal arterial macroaneurysm and supravalvular pulmonic stenosis +GARD:0012781,Orphanet,ORPHA:280633,Disorder,Malformation syndrome,Multiple congenital anomalies-hypotonia-seizures syndrome,Congenital disorder of glycosylation due to PIGN deficiency|PIGN-CDG +GARD:0012782,Orphanet,ORPHA:371235,Group of disorders,Category,Congenital disorder of glycosylation with developmental anomaly,CDG with developmental anomaly +GARD:0012784,Orphanet,ORPHA:542643,Disorder,Clinical syndrome,Livedoid vasculopathy,Livedo reticularis with summer ulcerations|Milian atrophie blanche|Segmental hyalinizing vasculitis +GARD:0012794,Orphanet,ORPHA:89842,Disorder,Disease,"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form","Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type|Generalized RDEB, intermediate form|RDEB, non-Hallopeau-Siemens type" +GARD:0012796,Orphanet,ORPHA:166260,Subtype of disorder,Clinical subtype,Dentinogenesis imperfecta type 2,"Capdepont teeth|DGI-2|DI-2|Dentinogenesis imperfecta, Shields type 2" +GARD:0012798,Orphanet,ORPHA:1020,Disorder,Disease,Early-onset autosomal dominant Alzheimer disease,EOFAD|Early-onset familial autosomal dominant Alzheimer disease|Familial Alzheimer disease +GARD:0012799,Orphanet+OMIM,OMIM:104310,Subtype of disorder,Disease subtype,Alzheimer disease 2,"Alzheimer disease 2, late-onset|alzheimer disease associated with apoe4" +GARD:0012800,Orphanet,ORPHA:306498,Group of disorders,Clinical group,PTEN hamartoma tumor syndrome,PHTS +GARD:0012801,Orphanet,ORPHA:2969,Disorder,Disease,Proteus-like syndrome, +GARD:0012806,Orphanet,ORPHA:1797,Disorder,Malformation syndrome,Autosomal dominant spondylocostal dysostosis,Autosomal dominant spondylocostal dysplasia +GARD:0012807,Orphanet+OMIM,OMIM:616566,Subtype of disorder,Malformation syndrome subtype,"Spondylocostal dysostosis 6, autosomal recessive", +GARD:0012811,Orphanet,ORPHA:404463,Disorder,Disease,Multisystemic smooth muscle dysfunction syndrome, +GARD:0012814,Orphanet,ORPHA:508488,Disorder,Malformation syndrome,8q24.3 microdeletion syndrome,Del(8)(q24.3)|Deletion 8q24.3|Monosomy 8q24.3|Verheij syndrome +GARD:0012815,Orphanet,ORPHA:363686,Disorder,Disease,Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, +GARD:0012816,Orphanet,ORPHA:228399,Disorder,Malformation syndrome,8q12 microduplication syndrome,Dup(8)(q12)|Trisomy 8q12 +GARD:0012819,Orphanet,ORPHA:247353,Disorder,Disease,Generalized pustular psoriasis,GPP +GARD:0012820,Orphanet,ORPHA:163927,Disorder,Disease,Pustulosis palmaris et plantaris,LPP|Localized pustular psoriasis|PPP|Palmoplantar pustulosis +GARD:0012821,Orphanet,ORPHA:171430,Disorder,Disease,Severe congenital nemaline myopathy, +GARD:0012822,Orphanet,ORPHA:171436,Disorder,Disease,Typical nemaline myopathy, +GARD:0012823,Orphanet,ORPHA:171433,Disorder,Disease,Intermediate nemaline myopathy, +GARD:0012824,Orphanet,ORPHA:171442,Disorder,Disease,Adult-onset nemaline myopathy, +GARD:0012825,Orphanet,ORPHA:561854,Disorder,Disease,FOXG1 syndrome,FOXG1-related epileptic-dyskinetic encephalopathy +GARD:0012827,Orphanet,ORPHA:69735,Disorder,Disease,Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome +GARD:0012829,Orphanet,ORPHA:411703,Disorder,Disease,Pulmonary non-tuberculous mycobacterial infection,Non-tuberculous mycobacterial lung disease +GARD:0012832,Orphanet+OMIM,OMIM:613426,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1s", +GARD:0012835,Orphanet,ORPHA:79126,Disorder,Disease,Acute interstitial pneumonia,Acute interstitial pneumonitis|Hamman-Rich syndrome +GARD:0012843,Orphanet,ORPHA:71274,Disorder,Disease,Disseminated peritoneal leiomyomatosis,DPL|Diffuse peritoneal leiomyomatosis|LPD|Leiomyomatosis peritonealis disseminate +GARD:0012844,Orphanet,ORPHA:363396,Disorder,Disease,High myopia-sensorineural deafness syndrome,High myopia-sensorineural hearing loss syndrome +GARD:0012845,Orphanet,ORPHA:444077,Disorder,Malformation syndrome,Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,CHOPS syndrome +GARD:0012851,Orphanet+OMIM,OMIM:613970,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 6, with or without seizures","Mental retardation, autosomal dominant 6, with or without seizures" +GARD:0012854,Orphanet,ORPHA:46348,Disorder,Disease,Paroxysmal extreme pain disorder,Familial rectal pain +GARD:0012860,Orphanet,ORPHA:64753,Disorder,Disease,Spinocerebellar ataxia with axonal neuropathy type 2,AOA2|Ataxia-oculomotor apraxia type 2|SCAN 2|SCAR1 +GARD:0012861,Orphanet,ORPHA:572550,Subtype of disorder,Clinical subtype,RFVT3-related riboflavin transporter deficiency,RTD3|Riboflavin transporter deficiency 3 +GARD:0012862,Orphanet,ORPHA:263543,Disorder,Disease,Generalized peeling skin syndrome,Generalized PSS|Generalized deciduous skin +GARD:0012863,Orphanet,ORPHA:263534,Disorder,Disease,Acral peeling skin syndrome,Acral PSS|Acral deciduous skin|Localized PSS|Localized deciduous skin +GARD:0012864,Orphanet,ORPHA:140905,Disorder,Disease,Hyperlipidemia due to hepatic triacylglycerol lipase deficiency,Hyperlipidemia due to HL deficiency|Hyperlipidemia due to HTGL deficiency|Hyperlipidemia due to hepatic lipase deficiency|Hyperlipidemia due to hepatic triglyceride lipase deficiency +GARD:0012867,Orphanet,ORPHA:96253,Disorder,Disease,Cushing disease,Corticotroph pituitary adenoma|Pituitary corticotroph micro-adenoma|Pituitary-dependent Cushing syndrome +GARD:0012868,Orphanet,ORPHA:209943,Disorder,Disease,IRVAN syndrome,Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome +GARD:0012874,Orphanet+OMIM,OMIM:613848,Subtype of disorder,Clinical subtype,"Osteogenesis imperfecta, type x","Oi, type x" +GARD:0012875,Orphanet+OMIM,OMIM:610968,Subtype of disorder,Clinical subtype,"Osteogenesis imperfecta, type xi","Oi, type xi" +GARD:0012889,Orphanet,ORPHA:209908,Disorder,Disease,Isolated childhood apraxia of speech,Isolated CAS|Isolated developmental verbal dyspraxia|Pure CAS|Pure childhood apraxia of speech|Speech and language disorder with orofacial dyspraxia|Speech-language disorder type 1 +GARD:0012892,Orphanet,ORPHA:352563,Disorder,Disease,Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,COXPD16|Combined oxidative phosphorylation defect type 16 +GARD:0012893,Orphanet,ORPHA:314051,Disorder,Disease,Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,COXPD12|Combined oxidative phosphorylation defect type 12|LTBL +GARD:0012894,Orphanet,ORPHA:448237,Disorder,Disease,Zika virus disease,Zika virus infection +GARD:0012900,Orphanet+OMIM,OMIM:612164,Subtype of disorder,Clinical syndrome subtype|Disease subtype,Developmental and epileptic encephalopathy 4,"Epileptic encephalopathy, early infantile, 4" +GARD:0012901,Orphanet+OMIM,OMIM:615905,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta,"Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta" +GARD:0012903,Orphanet,ORPHA:401777,Disorder,Disease,Optic atrophy-intellectual disability syndrome,BBSOAS|Bosch-Boonstra-Schaaf optic atrophy syndrome +GARD:0012913,Orphanet,ORPHA:500533,Disorder,Disease,Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,PMSE syndrome +GARD:0012915,Orphanet,ORPHA:319612,Subtype of disorder,Etiological subtype,X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency,X-linked MSMD due to IKBKG deficiency|X-linked MSMD due to NEMO deficiency|X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency +GARD:0012916,Orphanet,ORPHA:71275,Disorder,Disease,Rh deficiency syndrome,Rh-null syndrome +GARD:0012919,Orphanet,ORPHA:293181,Disorder,Disease,Malignant migrating focal seizures of infancy,Epilepsy of infancy with migrating focal seizures|MMPEI|MMPSI|MPEI|MPSI|Malignant migrating partial epilepsy of infancy|Malignant migrating partial seizures of infancy|Migrating partial epilepsy of infancy|Migrating partial seizures of infancy +GARD:0012921,Orphanet,ORPHA:79406,Disorder,Disease,Late-onset junctional epidermolysis bullosa,Epidermolysis bullosa progressiva|JEB-lo|Late-onset JEB +GARD:0012922,Orphanet,ORPHA:79402,Disorder,Disease,Intermediate generalized junctional epidermolysis bullosa,"Generalized atrophic benign epidermolysis bullosa|Generalized junctional epidermolysis bullosa, non-Herlitz type|Intermediate generalized JEB|Junctional epidermolysis bullosa generalisata mitis|Junctional epidermolysis bullosa, Disentis type" +GARD:0012923,Orphanet,ORPHA:251393,Disorder,Disease,Localized junctional epidermolysis bullosa,"JEB-nH loc|Junctional epidermolysis bullosa, non-Herlitz localized type|Localized JEB" +GARD:0012924,Orphanet,ORPHA:275555,Disorder,Disease,Preeclampsia, +GARD:0012925,Orphanet,ORPHA:199276,Disorder,Disease,Familial multiple lipomatosis, +GARD:0012927,Orphanet,ORPHA:90059,Disorder,Particular clinical situation in a disease or syndrome,Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma, +GARD:0012928,Orphanet,ORPHA:94,Group of disorders,Clinical group,Astrocytoma,Astrocytic tumor +GARD:0012931,Orphanet,ORPHA:404448,Disorder,Malformation syndrome,ADNP syndrome,ADNP-related syndromic intellectual disability-autism spectrum disorder|HVDAS|Helsmoortel-Van Der Aa Syndrome +GARD:0012943,Orphanet,ORPHA:89936,Disorder,Disease,X-linked hypophosphatemia,X-linked hypophosphatemic rickets|XLH +GARD:0012949,Orphanet+OMIM,OMIM:613477,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 5,"Epileptic encephalopathy, early infantile, 5" +GARD:0012958,Orphanet+OMIM,OMIM:613652,Subtype of disorder,Disease subtype,C1q deficiency, +GARD:0012959,Orphanet,ORPHA:182058,Group of disorders,Clinical group,Primary orthostatic hypotension, +GARD:0012963,Orphanet,ORPHA:352328,Disorder,Disease,MEGDEL syndrome,3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome|3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome +GARD:0012964,Orphanet,ORPHA:66634,Disorder,Disease,Dilated cardiomyopathy with ataxia,3-methylglutaconic aciduria type 5|DCMA syndrome|MGA5 +GARD:0012966,Orphanet,ORPHA:289902,Group of disorders,Clinical group,3-methylglutaconic aciduria, +GARD:0012976,Orphanet,ORPHA:319558,Disorder,Disease,Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,MSMD due to complete IL12B deficiency|MSMD due to complete interleukin 12B deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency +GARD:0012977,Orphanet,ORPHA:748,Group of disorders,Clinical group,Mendelian susceptibility to mycobacterial diseases,Idiopathic infection caused by BCG or atypical mycobacteria|MSMD|Mendelian susceptibility to atypical mycobacteria|Mendelian susceptibility to mycobacterial infections +GARD:0012978,Orphanet,ORPHA:401768,Disorder,Disease,Proximal myopathy with extrapyramidal signs, +GARD:0012980,Orphanet,ORPHA:529468,Disorder,Disease,Monoclonal mast cell activation syndrome,Monoclonal MCAD +GARD:0012983,Orphanet,ORPHA:90045,Disorder,Disease,Hereditary folate malabsorption,Congenital folate malabsorption +GARD:0012986,Orphanet,ORPHA:99901,Disorder,Disease,Acyl-CoA dehydrogenase 9 deficiency,ACAD9 deficiency +GARD:0012987,Orphanet,ORPHA:314381,Disorder,Disease,Hereditary sensory and autonomic neuropathy type 6,Familial dysautonomia with contractures|HSAN6|Hereditary sensory and autonomic neuropathy type VI +GARD:0012991,Orphanet,ORPHA:498359,Disorder,Disease,Aquagenic palmoplantar keratoderma,Aquagenic keratoderma|Aquagenic syringeal acrokeratoderma|Aquagenic wrinkling of the palms|Transient reactive papulotranslucent acrokeratoderma +GARD:0013003,Orphanet,ORPHA:90283,Disorder,Disease,Lupus erythematosus tumidus,Intermittent cutaneous lupus +GARD:0013004,Orphanet,ORPHA:890,Disorder,Disease,Hepatic veno-occlusive disease,Sinusoidal obstruction syndrome +GARD:0013007,Orphanet,ORPHA:330041,Disorder,Disease,Hemoglobin M disease,M hemoglobinopathy +GARD:0013011,Orphanet,ORPHA:156152,Group of disorders,Clinical group,Anti-neutrophil cytoplasmic antibody-associated vasculitis,AAV|ANCA-associated vasculitis|Antineutrophil cytoplasmic antibody-associated vasculitis +GARD:0013015,Orphanet,ORPHA:66628,Subtype of disorder,Etiological subtype,Obesity due to congenital leptin deficiency, +GARD:0013016,Orphanet,ORPHA:238569,Disorder,Disease,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,IL10-related early-onset IBD|IL10-related early-onset inflammatory bowel disease +GARD:0013019,Orphanet+OMIM,OMIM:616277,Subtype of disorder,Disease subtype,Mitochondrial short-chain enoyl-coa hydratase 1 deficiency, +GARD:0013020,Orphanet,ORPHA:79490,Disorder,Malformation syndrome,Microcystic lymphatic malformation,Capillary lymphangioma|Capillary lymphatic malformation|Cutaneous lymphangioma circumscriptum|Microcystic infiltrating lymphatic malformation|Microcystic lymphangioma|Superficial lymphangioma|Superficial lymphatic malformation +GARD:0013025,Orphanet,ORPHA:79414,Disorder,Disease,Woolly hair nevus,Wooly hair nevus +GARD:0013030,Orphanet,ORPHA:3226,Disorder,Malformation syndrome,Deafness-lymphedema-leukemia syndrome,Emberger syndrome|Hearing loss-lymphedema-leukemia syndrome +GARD:0013032,Orphanet,ORPHA:300570,Disorder,Disease,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation, +GARD:0013034,Orphanet,ORPHA:97253,Group of disorders,Category,Neuroendocrine tumor of pancreas,PNET|Pancreatic NET|Pancreatic neuroendocrine tumor|Well-differentiated NEN of pancreas|Well-differentiated neuroendocrine neoplasm of pancreas|Well-differentiated pancreatic NEN|Well-differentiated pancreatic neuroendocrine neoplasm +GARD:0013040,Orphanet,ORPHA:542592,Disorder,Disease,Necrobiosis lipoidica,Oppenheim-Urbach disease +GARD:0013041,Orphanet+OMIM,OMIM:612304,Subtype of disorder,Disease subtype,"Thrombophilia due to protein c deficiency, autosomal recessive","Protein c deficiency, autosomal recessive|proc deficiency, autosomal recessive" +GARD:0013043,Orphanet,ORPHA:329224,Disorder,Malformation syndrome,Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome,PACS1-related syndrome +GARD:0013046,Orphanet,ORPHA:363976,Disorder,Disease,Giant cell tumor of bone,GCT of bone|Osteoclastoma +GARD:0013047,Orphanet,ORPHA:363504,Group of disorders,Category,Germ cell tumor of testis,Testicular germ cell tumor +GARD:0013056,Orphanet,ORPHA:86816,Disorder,Disease,Congenital analbuminemia, +GARD:0013058,Orphanet,ORPHA:65743,Disorder,Malformation syndrome,Autosomal dominant multiple pterygium syndrome,Distal arthrogryposis type 8 +GARD:0013059,Orphanet,ORPHA:329457,Disorder,Disease,Distal arthrogryposis type 5D,DA5D|Distal arthrogryposis type 5 without ophthalmoparesis|Distal arthrogryposis type 5 without ophthalmoplegia +GARD:0013060,Orphanet,ORPHA:439218,Disorder,Disease,KCNQ2-related epileptic encephalopathy,KCNQ2-NEE|KCNQ2-related neonatal epileptic encephalopathy +GARD:0013063,Orphanet,ORPHA:217008,Disorder,Malformation syndrome,Bockenheimer syndrome,Genuine diffuse phlebectasia +GARD:0013070,Orphanet,ORPHA:48162,Subtype of disorder,Clinical subtype,Lewis-Sumner syndrome,MADSAM|Multifocal acquired demyelinating sensory and motor neuropathy +GARD:0013072,Orphanet,ORPHA:30924,Disorder,Disease,Primary hypomagnesemia with secondary hypocalcemia,HOMG1|HSH|Hypomagnesemia caused by selective magnesium malabsorption|Hypomagnesemia intestinal type 1|Intestinal hypomagnesemia with secondary hypocalcemia|PHSH +GARD:0013073,Orphanet,ORPHA:64754,Disorder,Disease,Nevus comedonicus syndrome, +GARD:0013075,Orphanet,ORPHA:497188,Disorder,Disease,Diffuse intrinsic pontine glioma,DIPG +GARD:0013085,Orphanet+OMIM,OMIM:614558,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 13,"Epileptic encephalopathy, early infantile, 13" +GARD:0013101,Orphanet,ORPHA:199247,Disorder,Disease,Corticosteroid-binding globulin deficiency,Transcortin deficiency +GARD:0013105,Orphanet,ORPHA:1652,Disorder,Disease,Dent disease,Dent syndrome|Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis|Renal Fanconi syndrome with nephrocalcinosis and renal stones|X-linked recessive hypercalciuric hypophosphatemic rickets|X-linked recessive nephrolithiasis +GARD:0013108,Orphanet,ORPHA:494433,Disorder,Disease,MIRAGE syndrome,Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome +GARD:0013110,Orphanet,ORPHA:438266,Subtype of disorder,Clinical subtype,Progressive encephalomyelitis with rigidity and myoclonus,PERM +GARD:0013111,Orphanet,ORPHA:459033,Disorder,Disease,Ataxia-oculomotor apraxia type 4,AOA4 +GARD:0013112,Orphanet+OMIM,OMIM:615217,Subtype of disorder,Disease subtype,Ataxia-oculomotor apraxia 3, +GARD:0013113,Orphanet+OMIM,OMIM:616483,Subtype of disorder,Disease subtype,Infantile liver failure syndrome 2, +GARD:0013114,Orphanet,ORPHA:370088,Disorder,Disease,Acute infantile liver failure-multisystemic involvement syndrome, +GARD:0013124,Orphanet,ORPHA:70591,Disorder,Disease,Chronic thromboembolic pulmonary hypertension,CTEPH +GARD:0013125,Orphanet,ORPHA:435651,Disorder,Disease,CIDEC-related familial partial lipodystrophy,CIDEC-related FPLD|FPLD5 +GARD:0013126,Orphanet,ORPHA:435660,Disorder,Disease,LIPE-related familial partial lipodystrophy,FPLD6|LIPE-related FPLD +GARD:0013136,Orphanet+OMIM,OMIM:616083,Subtype of disorder,Etiological subtype|Disease subtype,"Intellectual developmental disorder, autosomal dominant 30","Mental retardation, autosomal dominant 30" +GARD:0013137,Orphanet,ORPHA:369962,Subtype of disorder,Clinical subtype,"Methylmalonic acidemia with homocystinuria, type cblX","Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX|Methylmalonic aciduria with homocystinuria, type cblX" +GARD:0013142,Orphanet,ORPHA:623801,Disorder,Disease,Acute flaccid myelitis, +GARD:0013154,Orphanet,ORPHA:609,Disorder,Disease,Tibial muscular dystrophy,"Distal myopathy, Udd type|Distal titinopathy|Finnish tibial muscular dystrophy|TMD|Udd myopathy" +GARD:0013155,Orphanet,ORPHA:441452,Subtype of disorder,Clinical subtype,Early-onset lamellar cataract, +GARD:0013156,Orphanet,ORPHA:46484,Group of disorders,Clinical group,Oligodendroglial tumor, +GARD:0013157,Orphanet,ORPHA:47044,Disorder,Disease,Hereditary papillary renal cell carcinoma,HPRCC +GARD:0013158,Orphanet,ORPHA:36236,Disorder,Disease,Staphylococcal scalded skin syndrome,Generalized exfoliative disease|SSSS +GARD:0013160,Orphanet,ORPHA:177,Disorder,Disease,Rhizomelic chondrodysplasia punctata,RCDP +GARD:0013163,Orphanet,ORPHA:293355,Group of disorders,Clinical group,Methylmalonic acidemia without homocystinuria,Methylmalonic aciduria without homocystinuria +GARD:0013167,Orphanet,ORPHA:411788,Disorder,Disease,Familial isolated trichomegaly, +GARD:0013168,Orphanet,ORPHA:454887,Disorder,Disease,Corticobasal syndrome, +GARD:0013169,Orphanet,ORPHA:263463,Disorder,Disease,CHST3-related skeletal dysplasia,"Chondrodysplasia with congenital joint dislocations, CHST3 type|SDCD, CHST3 type|Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type" +GARD:0013171,Orphanet,ORPHA:448242,Disorder,Malformation syndrome,Autosomal recessive brachyolmia,"Brachyolmia, Hobaek/Toledo type" +GARD:0013173,Orphanet,ORPHA:639,Disorder,Disease,Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG,Anti-MAG neuropathy|Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein +GARD:0013174,Orphanet+OMIM,OMIM:157640,Subtype of disorder,Disease subtype,"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1","Progressive external ophthalmoplegia, autosomal dominant 1" +GARD:0013175,Orphanet,ORPHA:319319,Disorder,Disease,Renal medullary carcinoma, +GARD:0013177,Orphanet,ORPHA:88618,Disorder,Disease,S-adenosylhomocysteine hydrolase deficiency, +GARD:0013179,Orphanet+OMIM,OMIM:616977,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 43", +GARD:0013186,Orphanet,ORPHA:158003,Disorder,Disease,Xanthoma disseminatum,Montgomery syndrome +GARD:0013197,Orphanet+OMIM,OMIM:615369,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 94,"Epileptic encephalopathy, childhood-onset" +GARD:0013198,Orphanet,ORPHA:500062,Disorder,Disease,Infantile-onset periodic fever-panniculitis-dermatosis syndrome,ORAS|OTULIN deficiency|OTULIN-related autoinflammatory syndrome|Otulipenia +GARD:0013199,Orphanet,ORPHA:85136,Disorder,Disease,Cystic leukoencephalopathy without megalencephaly,CLWM +GARD:0013200,Orphanet,ORPHA:255235,Disorder,Disease,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy","mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy" +GARD:0013201,Orphanet,ORPHA:401948,Disorder,Disease,Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,CA-VA deficiency +GARD:0013202,Orphanet,ORPHA:88639,Disorder,Disease,Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,HIBCH deficiency|Methacrylic aciduria|Valine metabolic defect +GARD:0013206,Orphanet,ORPHA:251019,Disorder,Malformation syndrome,2q32q33 microdeletion syndrome,Del(2)(q32)|Del(2)(q32q33)|Monosomy 2q32|Monosomy 2q32q33 +GARD:0013209,Orphanet,ORPHA:95496,Disorder,Morphological anomaly,Pituitary stalk interruption syndrome,Ectopic neurohypophysis|PSIS +GARD:0013215,Orphanet,ORPHA:217071,Group of disorders,Clinical group,Renal cell carcinoma,RCC +GARD:0013218,Orphanet,ORPHA:221043,Disorder,Disease,Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,POIKTMP syndrome +GARD:0013219,Orphanet,ORPHA:289539,Disorder,Disease,BAP1-related tumor predisposition syndrome,Tumor susceptibility linked to germline BAP1 mutations +GARD:0013221,Orphanet,ORPHA:397933,Disorder,Disease,Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome,IQSEC2-related syndromic intellectual disability +GARD:0013222,Orphanet,ORPHA:363454,Subtype of disorder,Etiological subtype,BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures|SMALED2 +GARD:0013232,Orphanet,ORPHA:88619,Disorder,Disease,Familial acute necrotizing encephalopathy,ADANE|Recurrent acute necrotizing encephalopathy +GARD:0013235,Orphanet+OMIM,OMIM:615524,Subtype of disorder,Malformation syndrome subtype,"Microphthalmia, syndromic 12","Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects" +GARD:0013237,Orphanet,ORPHA:300912,Group of disorders,Clinical group,Marginal zone lymphoma, +GARD:0013244,Orphanet,ORPHA:85293,Disorder,Malformation syndrome,"X-linked intellectual disability, Cabezas type",Cabezas syndrome +GARD:0013256,Orphanet,ORPHA:449427,Subtype of disorder,Clinical subtype,IgG4-related pachymeningitis,Idiopathic hypertrophic pachymeningitis +GARD:0013259,Orphanet,ORPHA:352577,Disorder,Disease,Bainbridge-Ropers syndrome,Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +GARD:0013264,Orphanet,ORPHA:313850,Disorder,Disease,Infantile cerebellar-retinal degeneration, +GARD:0013273,Orphanet,ORPHA:284417,Subtype of disorder,Etiological subtype,"Phosphoserine aminotransferase deficiency, infantile/juvenile form","PSAT deficiency, infantile/juvenile form" +GARD:0013293,Orphanet,ORPHA:98885,Subtype of disorder,Etiological subtype,Bleeding diathesis due to glycoprotein VI deficiency, +GARD:0013295,Orphanet,ORPHA:98820,Disorder,Disease,Familial focal epilepsy with variable foci,FFEVF|Familial partial epilepsy with variable foci +GARD:0013296,Orphanet,ORPHA:261272,Disorder,Malformation syndrome,17q12 microduplication syndrome,Dup(17)(q12)|Trisomy 17q12 +GARD:0013297,Orphanet,ORPHA:261265,Disorder,Malformation syndrome,17q12 microdeletion syndrome,Del(17)(q12)|Monosomy 17q12 +GARD:0013298,Orphanet,ORPHA:369897,Disorder,Disease,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies","mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" +GARD:0013316,Orphanet,ORPHA:398069,Disorder,Disease,MAGEL2-related Prader-Willi-like syndrome,MAGEL2-related PWLS|Schaaf-Yang syndrome +GARD:0013318,Orphanet+OMIM,OMIM:613722,Subtype of disorder,Clinical syndrome subtype|Disease subtype,Developmental and epileptic encephalopathy 12,"Epileptic encephalopathy, early infantile, 12" +GARD:0013319,Orphanet,ORPHA:438178,Disorder,Disease,Fatty acyl-CoA reductase 1 deficiency,FAR1 deficiency|PFCRD|Peroxisomal fatty acyl-CoA reductase 1 disorder +GARD:0013320,Orphanet,ORPHA:468717,Subtype of disorder,Etiological subtype,Rhizomelic chondrodysplasia punctata type 5, +GARD:0013331,Orphanet,ORPHA:79147,Disorder,Disease,Familial reactive perforating collagenosis, +GARD:0013337,Orphanet,ORPHA:98300,Group of disorders,Clinical group,Idiopathic interstitial pneumonia, +GARD:0013339,Orphanet,ORPHA:464336,Disorder,Disease,BENTA disease,B-cell expansion with NF-kB and T-cell anergy disease +GARD:0013349,Orphanet,ORPHA:420584,Disorder,Malformation syndrome,Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,Culler-Jones syndrome +GARD:0013354,Orphanet,ORPHA:35737,Disorder,Morphological anomaly,Morning glory disc anomaly,Ectasic coloboma|Morning glory syndrome +GARD:0013371,Orphanet,ORPHA:324972,Disorder,Disease,MAGIC syndrome,Mouth and genital ulcers-inflamed cartilage syndrome +GARD:0013376,Orphanet+OMIM,OMIM:614135,Subtype of disorder,Disease subtype,"Epiphyseal dysplasia, multiple, 6", +GARD:0013378,Orphanet+OMIM,OMIM:615473,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 17,"Epileptic encephalopathy, early infantile, 17" +GARD:0013379,Orphanet+OMIM,OMIM:616078,Subtype of disorder,Disease subtype,"Intellectual developmental disorder, autosomal dominant 29","Mental retardation, autosomal dominant 29" +GARD:0013388,Orphanet,ORPHA:528,Disorder,Disease,Congenital generalized lipodystrophy,BSCL|Berardinelli-Seip congenital lipodystrophy|Berardinelli-Seip syndrome|CGL|Lipoatrophic diabetes +GARD:0013389,Orphanet+OMIM,OMIM:612526,Subtype of disorder,Disease subtype,"Lipodystrophy, congenital generalized, type 3","lipodystrophy, berardinelli-seip congenital, type 3|Berardinelli-seip congenital lipodystrophy, type 3" +GARD:0013390,Orphanet,ORPHA:94063,Disorder,Malformation syndrome,12q14 microdeletion syndrome,Del(12)(q14)|Deletion 12q14|Monosomy 12q14|Osteopoikilosis-short stature-intellectual disability syndrome +GARD:0013391,Orphanet,ORPHA:261349,Disorder,Malformation syndrome,2p15p16.1 microdeletion syndrome,Del(2)(p15p16.1)|Monosomy 2p15p16.1 +GARD:0013409,Orphanet,ORPHA:412069,Disorder,Malformation syndrome,AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,Xia-Gibbs syndrome +GARD:0013418,Orphanet,ORPHA:453504,Subtype of disorder,Etiological subtype,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation, +GARD:0013423,Orphanet,ORPHA:480864,Disorder,Disease,Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,TANGO2-related metabolic encephalopathy-arrhythmia syndrome +GARD:0013425,Orphanet,ORPHA:447997,Disorder,Disease,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,ASCT1 deficiency|Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome +GARD:0013431,Orphanet,ORPHA:254516,Disorder,Malformation syndrome,Temple syndrome, +GARD:0013446,Orphanet,ORPHA:86855,Disorder,Disease,Plasmacytoma,Solitary plasmacytoma +GARD:0013447,Orphanet,ORPHA:313936,Disorder,Disease,PENS syndrome,Papular epidermal nevi with skyline basal cell layers syndrome +GARD:0013451,Orphanet,ORPHA:464329,Disorder,Disease,Kaposiform lymphangiomatosis, +GARD:0013461,Orphanet,ORPHA:217330,Subtype of disorder,Clinical subtype,REN-related autosomal dominant tubulointerstitial kidney disease,ADTKD-REN|FJHN type 2|Familial juvenile hyperuricemic nephropathy type 2|REN-associated FJHN|REN-associated familial juvenile hyperuricemic nephropathy|REN-associated kidney disease +GARD:0013472,Orphanet,ORPHA:247790,Disorder,Disease,FTH1-related iron overload,FTH1-associated iron overload +GARD:0013474,Orphanet,ORPHA:468620,Disorder,Disease,Intellectual disability-epilepsy-extrapyramidal syndrome, +GARD:0013488,Orphanet,ORPHA:508093,Disorder,Malformation syndrome,MEPAN syndrome,"Autosomal recessive childhood-onset dystonia, DYT29 type|Childhood-onset generalized dystonia-optic atrophy syndrome|DYT29|Dystonia 29|Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome" +GARD:0013489,Orphanet,ORPHA:500150,Disorder,Malformation syndrome,Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome,ZTTK syndrome|Zhu-Tokita-Takenouchi-Kim syndrome +GARD:0013519,Orphanet,ORPHA:209341,Subtype of disorder,Etiological subtype,DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy|SMALED1 +GARD:0013524,Orphanet+OMIM,OMIM:617854,Subtype of disorder,Etiological subtype|Disease subtype,"Intellectual developmental disorder, autosomal dominant 56","Mental retardation, autosomal dominant 56" +GARD:0013527,Orphanet,ORPHA:464306,Disorder,Malformation syndrome,DYRK1A-related intellectual disability syndrome,DYRK1A syndrome +GARD:0013539,Orphanet+OMIM,OMIM:616579,Subtype of disorder,Etiological subtype,"Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features","Intellectual developmental disorder, autosomal dominant 40, formerly|mental retardation, autosomal dominant 40, formerly" +GARD:0013565,Orphanet,ORPHA:445018,Disorder,Disease,Combined immunodeficiency due to LRBA deficiency,CID due to LRBA deficiency +GARD:0013568,Orphanet,ORPHA:320385,Disorder,Disease,Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,Autosomal recessive spastic paraplegia type 49|HSAN due to TECPR2 mutation|SPG49 +GARD:0013571,Orphanet,ORPHA:293955,Disorder,Disease,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, +GARD:0013587,Orphanet,ORPHA:157949,Disorder,Disease,Combined immunodeficiency with granulomatosis,CID due to RAG 1/2 deficiency|Combined immunodeficiency due to RAG 1/2 deficiency +GARD:0013588,Orphanet,ORPHA:99748,Disorder,Disease,Pontiac fever, +GARD:0013591,Orphanet,ORPHA:443236,Disorder,Disease,Postural orthostatic tachycardia syndrome due to NET deficiency,Familial orthostatic tachycardia due to norepinephrine transporter deficiency|Orthostatic intolerance due to NET deficiency|POTS due to NET deficiency +GARD:0013592,Orphanet,ORPHA:42738,Group of disorders,Clinical group,Severe congenital neutropenia, +GARD:0013593,Orphanet,ORPHA:251975,Disorder,Disease,Rosette-forming glioneuronal tumor,RGNT +GARD:0013594,Orphanet,ORPHA:352649,Disorder,Disease,Brain dopamine-serotonin vesicular transport disease, +GARD:0013606,Orphanet,ORPHA:48377,Disorder,Disease,Subcorneal pustular dermatosis,Pustulosis subcornealis|Sneddon-Wilkinson disease|Subcorneal pustular dermatitis +GARD:0013613,Orphanet,ORPHA:90066,Disorder,Particular clinical situation in a disease or syndrome,Pneumonia caused by Pseudomonas aeruginosa infection, +GARD:0013621,Orphanet,ORPHA:448010,Disorder,Disease,CAD-CDG,CDG syndrome type Iz|CDG-Iz|CDG1Z|Carbohydrate deficient glycoprotein syndrome type Iz|Congenital disorder of glycosylation type 1z +GARD:0013629,Orphanet,ORPHA:139402,Disorder,Disease,Drug reaction with eosinophilia and systemic symptoms,DRESS syndrome|Drug rash with eosinophilia and systemic symptoms +GARD:0013636,Orphanet,ORPHA:457485,Disorder,Malformation syndrome,Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,MINDS syndrome|Smith-Kingsmore syndrome +GARD:0013638,Orphanet,ORPHA:480880,Disorder,Malformation syndrome,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females +GARD:0013639,Orphanet,ORPHA:79239,Disorder,Disease,Classic galactosemia,GALT deficiency|Galactose-1-phosphate uridyltransferase deficiency|Galactosemia type 1 +GARD:0013641,Orphanet,ORPHA:221061,Disorder,Malformation syndrome,Familial cerebral cavernous malformation,Familial brain cavernous angioma|Familial cerebral cavernoma|Hereditary brain cavernous angioma|Hereditary cerebral cavernoma|Hereditary cerebral cavernous malformation +GARD:0013643,Orphanet,ORPHA:35698,Group of disorders,Category,Mitochondrial DNA depletion syndrome,mtDNA depletion syndrome +GARD:0013644,Orphanet,ORPHA:279934,Disorder,Disease,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency", +GARD:0013655,Orphanet,ORPHA:434179,Disorder,Malformation syndrome,Orofaciodigital syndrome type 14,Microcephaly-cerebral malformation-orofaciodigital syndrome|OFD14|Oral-facial-digital syndrome type 14 +GARD:0013658,Orphanet,ORPHA:500180,Disorder,Disease,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, +GARD:0013661,Orphanet,ORPHA:324604,Subtype of disorder,Clinical subtype,Classic multiminicore myopathy,Classic MmD|Classic multiminicore disease +GARD:0013663,Orphanet,ORPHA:166282,Disorder,Disease,Familial sick sinus syndrome, +GARD:0013676,Orphanet+OMIM,OMIM:615476,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 18,"Epileptic encephalopathy, early infantile, 18" +GARD:0013686,Orphanet+OMIM,OMIM:614254,Subtype of disorder,Etiological subtype,"Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant","Mental retardation, autosomal dominant 8, formerly" +GARD:0013701,Orphanet,ORPHA:178540,Disorder,Disease,Primary cutaneous follicle center lymphoma,PCFCL +GARD:0013708,Orphanet,ORPHA:280558,Disorder,Malformation syndrome,Warsaw breakage syndrome,WABS +GARD:0013712,Orphanet,ORPHA:231154,Disorder,Disease,Combined immunodeficiency due to partial RAG1 deficiency,CID due to partial RAG1 deficiency|CID with expansion of gamma delta T cells|Combined immunodeficiency with expansion of gamma delta T cells +GARD:0013731,Orphanet,ORPHA:86871,Disorder,Disease,T-cell prolymphocytic leukemia,T-PLL|T-cell chronic lymphocytic leukemia +GARD:0013737,Orphanet+OMIM,OMIM:613744,Subtype of disorder,Disease subtype,"Spastic paraplegia 51, autosomal recessive","Cerebral palsy, spastic quadriplegic, 4, formerly" +GARD:0013743,Orphanet+OMIM,OMIM:259600,Subtype of disorder,Disease subtype,"Multicentric osteolysis, nodulosis, and arthropathy","nao syndrome|al-aqeel sewairi syndrome|osteolysis, hereditary multicentric|nodulosis-arthropathy-osteolysis syndrome|Torg syndrome|torg-winchester syndrome, formerly" +GARD:0013774,Orphanet,ORPHA:468678,Disorder,Disease,White-Sutton syndrome,Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +GARD:0013781,Orphanet,ORPHA:250977,Disorder,Disease,AICA-ribosiduria,5-amino-4-imidazole carboxamide ribosiduria|AICA-ribosiduria due to ATIC deficiency|AICAR transformylase/IMP cyclohydrolase deficiency|ATIC deficiency +GARD:0013789,Orphanet,ORPHA:597738,Disorder,Malformation syndrome,Luscan-Lumish syndrome,SETD2-related overgrowth syndrome +GARD:0013806,Orphanet,ORPHA:599082,Disorder,Malformation syndrome,CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome,Snijders Blok-Campeau syndrome +GARD:0013809,Orphanet,ORPHA:227796,Disorder,Disease,Fundus albipunctatus, +GARD:0013811,Orphanet,ORPHA:420179,Disorder,Malformation syndrome,Malan overgrowth syndrome,Sotos syndrome 2 +GARD:0013818,Orphanet,ORPHA:506334,Disorder,Disease,Familial steroid-resistant nephrotic syndrome with adrenal insufficiency,Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency +GARD:0013824,Orphanet,ORPHA:324977,Disorder,Disease,Proteasome-associated autoinflammatory syndrome,ALDD syndrome|Autoinflammation-lipodystrophy-dermatosis syndrome|PRAAS|Proteasome disability syndrome +GARD:0015000,Orphanet,ORPHA:99812,Disorder,Disease,LIG4 syndrome,DNA ligase IV deficiency|Ligase 4 syndrome +GARD:0015001,Orphanet,ORPHA:596753,Disorder,Disease,VEXAS syndrome, +GARD:0015002,GARD,,Disorder,Disease,AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY,Cleavage-resistant RIPK1-induced autoinflammatory CRIA syndrome +GARD:0015003,Orphanet,ORPHA:566175,Disorder,Disease,Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome,CD55 deficiency|CHAPLE syndrome +GARD:0015004,Orphanet,ORPHA:306550,Disorder,Disease,FADD-related immunodeficiency, +GARD:0015005,GARD,,Disorder,Disease,PACAK-ZHUANG syndrome, +GARD:0015006,GARD,,Disorder,Disease,STAT5 Haploinsuffciency, +GARD:0015007,GARD,,Disorder,Disease,Warburg-Cinotti syndrome, +GARD:0015008,GARD,,Disorder,Disease,Okur-Chung neurodevelopmental syndrome (OCNDS), +GARD:0015010,Orphanet,ORPHA:145,Disorder,Disease,Hereditary breast and ovarian cancer syndrome, +GARD:0015011,Orphanet+OMIM,OMIM:300554,Subtype of disorder,Clinical subtype,"Hypophosphatemic rickets, x-linked recessive", +GARD:0015012,Orphanet,ORPHA:667,Disorder,Malformation syndrome,Autosomal recessive malignant osteopetrosis,Infantile malignant osteopetrosis +GARD:0015013,Orphanet,ORPHA:1522,Disorder,Malformation syndrome,Craniometaphyseal dysplasia, +GARD:0015014,Orphanet,ORPHA:2126,Disorder,Disease,Solitary fibrous tumor/hemangiopericytoma,SFT/HPC +GARD:0015015,Orphanet,ORPHA:49382,Disorder,Disease,Achromatopsia,ACHM|Complete or incomplete color blindness|Pingelapese blindness|Rod monochromacy|Rod monochromatism|Total color blindness +GARD:0015016,Orphanet,ORPHA:50942,Disorder,Disease,Striate palmoplantar keratoderma,Keratosis palmoplantaris striata|Keratosis palmoplantaris striata et areata|Keratosis palmoplantaris varians of Wachters +GARD:0015017,Orphanet,ORPHA:77258,Disorder,Malformation syndrome,Trichorhinophalangeal syndrome type 1 and 3, +GARD:0015018,Orphanet,ORPHA:1478,Disorder,Morphological anomaly,Interatrial communication,ASD|Atrial septal defect|Interauricular communication +GARD:0015019,Orphanet,ORPHA:84090,Disorder,Disease,Fibronectin glomerulopathy,GFND|Glomerulopathy with fibronectin deposits +GARD:0015020,Orphanet,ORPHA:90695,Disorder,Disease,Non-acquired panhypopituitarism,Genetic panhypopituitarism +GARD:0015021,Orphanet,ORPHA:95429,Disorder,Disease,Angioma serpiginosum, +GARD:0015022,Orphanet,ORPHA:98913,Subtype of disorder,Etiological subtype,Postsynaptic congenital myasthenic syndromes, +GARD:0015023,Orphanet,ORPHA:98914,Subtype of disorder,Etiological subtype,Presynaptic congenital myasthenic syndromes, +GARD:0015024,Orphanet,ORPHA:166002,Disorder,Disease,Multiple epiphyseal dysplasia due to collagen 9 anomaly, +GARD:0015025,Orphanet,ORPHA:169147,Disorder,Disease,Immunodeficiency due to a classical component pathway complement deficiency,"Immunodeficiency due to C1, C4, or C2 component complement deficiency|Immunodeficiency due to an early component of complement deficiency" +GARD:0015026,Orphanet,ORPHA:183678,Subtype of disorder,Clinical subtype,Hermansky-Pudlak syndrome due to AP-3 deficiency,Hermansky-Pudlak syndrome with neutropenia +GARD:0015027,Orphanet,ORPHA:199241,Disorder,Disease,Pulmonary capillary hemangiomatosis, +GARD:0015028,Orphanet,ORPHA:442835,Disorder,Disease,Non-specific early-onset epileptic encephalopathy,Non-specific EOEE|Undetermined EOEE|Undetermined early-onset epileptic encephalopathy +GARD:0015029,Orphanet+OMIM,OMIM:100050,Subtype of disorder,Malformation syndrome subtype,"Aarskog syndrome, autosomal dominant", +GARD:0015030,Orphanet+OMIM,OMIM:101800,Subtype of disorder,Disease subtype|Malformation syndrome subtype,Acrodysostosis 1 with or without hormone resistance,Adohr +GARD:0015031,Orphanet+OMIM,OMIM:102400,Subtype of disorder,Malformation syndrome subtype,Acroosteolysis, +GARD:0015032,Orphanet+OMIM,OMIM:102530,Subtype of disorder,Clinical subtype,Spermatogenic failure 6,"acrosome malformation of spermatozoa|round-headed spermatozoa|spermatozoa, round-headed|Globozoospermia" +GARD:0015033,Orphanet+OMIM,OMIM:103230,Subtype of disorder,Disease subtype,"Adrenocortical hypofunction, chronic primary congenital","Addison disease, congenital" +GARD:0015034,Orphanet+OMIM,OMIM:103920,Subtype of disorder,Disease subtype,"Allergic bronchopulmonary aspergillosis, familial", +GARD:0015035,Orphanet+OMIM,OMIM:104000,Subtype of disorder,Disease subtype,Alopecia areata 1, +GARD:0015036,Orphanet+OMIM,OMIM:104290,Subtype of disorder,Disease subtype,Alternating hemiplegia of childhood 1, +GARD:0015037,Orphanet+OMIM,OMIM:104500,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, type ib","enamel hypoplasia, hereditary localized|Amelogenesis imperfecta, hypoplastic local, autosomal dominant|aih2" +GARD:0015038,Orphanet+OMIM,OMIM:104530,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, type ia","Amelogenesis imperfecta, hypoplastic type ia" +GARD:0015039,Orphanet+OMIM,OMIM:105650,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 1,"aase syndrome|Dba|red cell aplasia, pure, hereditary|blackfan-diamond syndrome|aregenerative anemia, chronic congenital|erythrogenesis imperfecta|aase-smith syndrome ii|anemia, congenital hypoplastic, of blackfan and diamond|anemia, congenital erythroid hypoplastic" +GARD:0015040,Orphanet+OMIM,OMIM:107000,Subtype of disorder,Clinical subtype,"Nail disorder, nonsyndromic congenital, 6","Anonychia/hyponychia and onychodystrophy|anonychia, partial" +GARD:0015041,Orphanet+OMIM,OMIM:108420,Subtype of disorder,Disease subtype,Spermatogenic failure 2,Aspermiogenesis factor +GARD:0015042,Orphanet+OMIM,OMIM:109543,Subtype of disorder,Disease subtype,"Leukemia, chronic lymphocytic, susceptibility to, 2", +GARD:0015043,Orphanet+OMIM,OMIM:109720,Subtype of disorder,Disease subtype,"Biliary cirrhosis, primary, 1", +GARD:0015044,Orphanet+OMIM,OMIM:109740,Subtype of disorder,Malformation syndrome subtype,"Bifid nose, autosomal dominant", +GARD:0015045,Orphanet+OMIM,OMIM:113700,Subtype of disorder,Morphological anomaly subtype,"Breasts and/or nipples, aplasia or hypoplasia of, 1",Amastia|athelia|amazia +GARD:0015046,Orphanet+OMIM,OMIM:115660,Subtype of disorder,Clinical subtype,Cataract 7, +GARD:0015047,Orphanet+OMIM,OMIM:116200,Subtype of disorder,Malformation syndrome subtype,"Cataract 1, multiple types","cataract, zonular pulverulent, 1|Cataract 1, multiple types, with or without microcornea|cataract, duffy-linked" +GARD:0015048,Orphanet+OMIM,OMIM:117550,Subtype of disorder,Disease subtype,Sotos syndrome,"chromosome 5q35 deletion syndrome|Cerebral gigantism|sotos syndrome 1, formerly" +GARD:0015049,Orphanet+OMIM,OMIM:118100,Subtype of disorder,Malformation syndrome subtype,"Klippel-feil syndrome 1, autosomal dominant","cervical vertebral fusion, autosomal dominant|Kfs" +GARD:0015050,Orphanet+OMIM,OMIM:119100,Subtype of disorder,Malformation syndrome subtype,Split-hand/foot malformation with long bone deficiency 1, +GARD:0015051,Orphanet+OMIM,OMIM:120100,Subtype of disorder,Disease subtype,Familial cold autoinflammatory syndrome 1,"Fcas|cold-induced autoinflammatory syndrome, familial|cryopyrin-associated periodic syndrome 1|cold urticaria, familial|cold hypersensitivity" +GARD:0015052,Orphanet+OMIM,OMIM:120435,Subtype of disorder,Disease subtype,Lynch syndrome i,"coca1|Colorectal cancer, hereditary nonpolyposis, type 1|colon cancer, familial nonpolyposis, type 1" +GARD:0015053,Orphanet+OMIM,OMIM:120502,Subtype of disorder,Malformation syndrome subtype,Branchiootic syndrome 2, +GARD:0015054,Orphanet+OMIM,OMIM:121201,Subtype of disorder,Disease subtype,"Seizures, benign familial neonatal, 2","Convulsions, benign familial neonatal, 2" +GARD:0015055,Orphanet+OMIM,OMIM:123700,Subtype of disorder,Disease subtype,"Cutis laxa, autosomal dominant 1", +GARD:0015056,Orphanet+OMIM,OMIM:124000,Subtype of disorder,Disease subtype,"Mitochondrial complex iii deficiency, nuclear type 1", +GARD:0015057,Orphanet+OMIM,OMIM:125250,Subtype of disorder,Disease subtype,"Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",Dominant optic atrophy plus syndrome +GARD:0015058,Orphanet+OMIM,OMIM:125800,Subtype of disorder,Disease subtype,"Diabetes insipidus, nephrogenic, 2, autosomal","Diabetes insipidus, nephrogenic, type ii" +GARD:0015059,Orphanet+OMIM,OMIM:126050,Subtype of disorder,Malformation syndrome subtype,Digitotalar dysmorphism,"Ulnar drift, hereditary" +GARD:0015060,Orphanet+OMIM,OMIM:126700,Subtype of disorder,Disease subtype,Basal laminar drusen,"Drusen of bruch membrane|drusen, cuticular|drusen, early adult-onset, grouped" +GARD:0015061,Orphanet+OMIM,OMIM:128100,Subtype of disorder,Disease subtype,"Dystonia 1, torsion, autosomal dominant",Dystonia musculorum deformans 1|early-onset torsion dystonia +GARD:0015062,Orphanet+OMIM,OMIM:129600,Subtype of disorder,Malformation syndrome subtype,"Ectopia lentis 1, isolated, autosomal dominant", +GARD:0015063,Orphanet+OMIM,OMIM:129900,Subtype of disorder,Malformation syndrome subtype,"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1", +GARD:0015064,Orphanet+OMIM,OMIM:130600,Subtype of disorder,Disease subtype,Elliptocytosis 2,"Elliptocytosis, rhesus-unlinked type" +GARD:0015065,Orphanet+OMIM,OMIM:132100,Subtype of disorder,Disease subtype,Photoparoxysmal response 1, +GARD:0015066,Orphanet+OMIM,OMIM:133180,Subtype of disorder,Disease subtype,"Erythroleukemia, familial, susceptibility to","leukemia, acute myelogenous, m6|Di guglielmo disease, familial" +GARD:0015067,Orphanet+OMIM,OMIM:133540,Subtype of disorder,Clinical subtype,Cockayne syndrome b, +GARD:0015068,Orphanet+OMIM,OMIM:133780,Subtype of disorder,Disease subtype,Exudative vitreoretinopathy 1,"fevr, autosomal dominant|Exudative vitreoretinopathy, familial, autosomal dominant|criswick-schepens syndrome" +GARD:0015069,Orphanet+OMIM,OMIM:134610,Subtype of disorder,Disease subtype,"Familial mediterranean fever, autosomal dominant","Fmf, autosomal dominant" +GARD:0015070,Orphanet+OMIM,OMIM:135290,Subtype of disorder,Disease subtype,"Desmoid disease, hereditary","Fibromatosis, familial infiltrative" +GARD:0015071,Orphanet+OMIM,OMIM:135500,Subtype of disorder,Malformation syndrome subtype,Zimmermann-laband syndrome 1,"Laband syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly" +GARD:0015072,Orphanet+OMIM,OMIM:135900,Subtype of disorder,Malformation syndrome subtype,Coffin-siris syndrome 1,"mental retardation, autosomal dominant 12|fifth digit syndrome|hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features|Coffin-siris syndrome" +GARD:0015076,Orphanet+OMIM,OMIM:142623,Subtype of disorder,Disease subtype,"Hirschsprung disease, susceptibility to, 1","aganglionic megacolon|megacolon, aganglionic|Hirschsprung disease" +GARD:0015077,Orphanet+OMIM,OMIM:144250,Subtype of disorder,Etiological subtype,"Hyperlipidemia, familial combined, 3",Familial combined hyperlipidemia +GARD:0015078,Orphanet+OMIM,OMIM:146550,Subtype of disorder,Disease subtype,Hypotrichosis 4,"Marie unna hereditary hypotrichosis 1|hypotrichosis, marie unna type, 1" +GARD:0015079,Orphanet+OMIM,OMIM:147480,Subtype of disorder,Disease subtype,"Cholestasis, intrahepatic, of pregnancy, 1","Cholestasis, pregnancy-related, 1" +GARD:0015080,Orphanet+OMIM,OMIM:148000,Subtype of disorder,Disease subtype,"Kaposi sarcoma, susceptibility to","Multiple idiopathic pigmented hemangiosarcoma, susceptibility to" +GARD:0015081,Orphanet+OMIM,OMIM:148600,Subtype of disorder,Disease subtype,"Palmoplantar keratoderma, punctate type ia","keratodermia palmoplantaris papulosa, buschke-fischer-brauer type|kppp1|Palmoplantar keratoderma, punctate type i|keratosis palmoplantaris papulosa" +GARD:0015082,Orphanet+OMIM,OMIM:153670,Subtype of disorder,Disease subtype,"Bernard-soulier syndrome, type a2, autosomal dominant", +GARD:0015083,Orphanet+OMIM,OMIM:154230,Subtype of disorder,Malformation syndrome subtype,"46,xy sex reversal 4", +GARD:0015086,Orphanet+OMIM,OMIM:157600,Subtype of disorder,Disease subtype,Mirror movements 1,"mirror movements, congenital|bimanual synergia|Mirror movements 1 and/or agenesis of the corpus callosum" +GARD:0015087,Orphanet+OMIM,OMIM:158900,Subtype of disorder,Disease subtype,Facioscapulohumeral muscular dystrophy 1, +GARD:0015088,Orphanet+OMIM,OMIM:158901,Subtype of disorder,Disease subtype,"Facioscapulohumeral muscular dystrophy 2, digenic","muscular dystrophy, facioscapulohumeral, type 2|muscular dystrophy, facioscapulohumeral, type 1b|Fshd2, digenic" +GARD:0015089,Orphanet+OMIM,OMIM:159050,Subtype of disorder,Disease subtype,"Muscular dystrophy, pseudohypertrophic, with internalized capillaries", +GARD:0015090,Orphanet+OMIM,OMIM:160980,Subtype of disorder,Disease subtype,"Carney complex, type 1","carney syndrome|Carney myxoma-endocrine complex|lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|name syndrome" +GARD:0015091,Orphanet+OMIM,OMIM:161400,Subtype of disorder,Disease subtype,Narcolepsy 1,Narcoleptic syndrome 1 +GARD:0015092,Orphanet+OMIM,OMIM:161550,Subtype of disorder,Disease subtype,"Nasopharyngeal carcinoma, susceptibility to, 2", +GARD:0015093,Orphanet+OMIM,OMIM:613956,Subtype of disorder,Disease subtype,"Candidiasis, familial, 6","Candidiasis, familial chronic mucocutaneous, autosomal dominant" +GARD:0015094,Orphanet+OMIM,OMIM:162260,Subtype of disorder,Disease subtype,"Neurofibromatosis, type iii, mixed central and peripheral","nf iii|Neurofibromatosis, type iii, of riccardi|Neurofibromas, palmar cutaneous, included|neurofibromatosis, type iii, riccardi type" +GARD:0015095,Orphanet+OMIM,OMIM:162400,Subtype of disorder,Disease subtype,"Neuropathy, hereditary sensory and autonomic, type ia","neuropathy, hereditary sensory radicular, autosomal dominant, type 1a|neuropathy, hereditary sensory, type ia|hsn ia|hsan1|Hsan ia" +GARD:0015096,Orphanet+OMIM,OMIM:163500,Subtype of disorder,Disease subtype,"Night blindness, congenital stationary, autosomal dominant 2","Night blindness, congenital stationary, rambusch type" +GARD:0015097,Orphanet+OMIM,OMIM:164310,Subtype of disorder,Disease subtype,Oculopharyngodistal myopathy 1,Oculopharyngodistal myopathy|faciooculolaryngopharyngeal myopathy with distal and respiratory involvement +GARD:0015098,Orphanet+OMIM,OMIM:165200,Subtype of disorder,Disease subtype,Optic atrophy with demyelinating disease of cns, +GARD:0015099,Orphanet+OMIM,OMIM:165500,Subtype of disorder,Disease subtype,Optic atrophy 1,"Optic atrophy, juvenile|optic atrophy, kjer type|kjer-type optic atrophy" +GARD:0015100,Orphanet+OMIM,OMIM:166230,Subtype of disorder,Clinical subtype,"Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures", +GARD:0015101,Orphanet+OMIM,OMIM:167100,Subtype of disorder,Malformation syndrome subtype,"Hypertrophic osteoarthropathy, primary, autosomal dominant","Pho, autosomal dominant|pdp, autosomal dominant|pachydermoperiostosis, autosomal dominant" +GARD:0015102,Orphanet+OMIM,OMIM:167200,Subtype of disorder,Disease subtype,Pachyonychia congenita 1,"Pachyonychia congenita, jadassohn-lewandowsky type, formerly|jadassohn-lewandowsky syndrome, formerly" +GARD:0015103,Orphanet+OMIM,OMIM:167210,Subtype of disorder,Disease subtype,Pachyonychia congenita 2,"Pachyonychia congenita, jackson-lawler type, formerly" +GARD:0015104,Orphanet+OMIM,OMIM:167755,Subtype of disorder,Morphological anomaly subtype,"Pancreas, dorsal, agenesis of", +GARD:0015105,Orphanet+OMIM,OMIM:171300,Subtype of disorder,Disease subtype,Pheochromocytoma,"Pheochromocytoma, susceptibility to" +GARD:0015106,Orphanet+OMIM,OMIM:175510,Subtype of disorder,Disease subtype,Gist-plus syndrome,"Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, formerly" +GARD:0015107,Orphanet+OMIM,OMIM:175780,Subtype of disorder,Etiological subtype,Brain small vessel disease 1 with or without ocular anomalies,"Hemiplegia, infantile, with porencephaly|leukoencephalopathy with axenfeld-rieger anomaly|porencephaly, type 1, autosomal dominant, formerly|porencephaly 1, formerly|porencephaly, type 1, formerly|brain small vessel disease with hemorrhage|brain small vessel disease with axenfeld-rieger anomaly|retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant" +GARD:0015108,Orphanet+OMIM,OMIM:175800,Subtype of disorder,Disease subtype,"Porokeratosis 1, multiple types",Porokeratosis of mibelli +GARD:0015109,Orphanet+OMIM,OMIM:179900,Subtype of disorder,Disease subtype,Retinal aplasia,Amaurosis congenita +GARD:0015110,Orphanet+OMIM,OMIM:180105,Subtype of disorder,Disease subtype,Retinitis pigmentosa 10, +GARD:0015111,Orphanet+OMIM,OMIM:180210,Subtype of disorder,Disease subtype,"Retinopathy, pericentral pigmentary, dominant", +GARD:0015112,Orphanet+OMIM,OMIM:181460,Subtype of disorder,Disease subtype,"Schistosoma mansoni infection, susceptibility/resistance to", +GARD:0015113,Orphanet+OMIM,OMIM:182950,Subtype of disorder,Disease subtype,Spinal arachnoiditis, +GARD:0015114,Orphanet+OMIM,OMIM:184100,Subtype of disorder,Disease subtype,"Spondyloepiphyseal dysplasia tarda, autosomal dominant", +GARD:0015115,Orphanet+OMIM,OMIM:186500,Subtype of disorder,Malformation syndrome subtype,Multiple synostoses syndrome 1,"symphalangism-brachydactyly syndrome|deafness-symphalangism syndrome of herrmann|Synostoses, multiple, with brachydactyly|wl syndrome|facioaudiosymphalangism syndrome" +GARD:0015116,Orphanet+OMIM,OMIM:187760,Subtype of disorder,Malformation syndrome subtype,Thoracolaryngopelvic dysplasia,Barnes syndrome +GARD:0015117,Orphanet+OMIM,OMIM:187900,Subtype of disorder,Disease subtype,"Bleeding disorder, platelet-type, 17","Thrombasthenia-thrombocytopenia, hereditary" +GARD:0015118,Orphanet+OMIM,OMIM:188400,Subtype of disorder,Malformation syndrome subtype,Digeorge syndrome,hypoplasia of thymus and parathyroids|Chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome +GARD:0015119,Orphanet+OMIM,OMIM:188580,Subtype of disorder,Disease subtype,"Thyrotoxic periodic paralysis, susceptibility to, 1", +GARD:0015120,Orphanet+OMIM,OMIM:188700,Subtype of disorder,Malformation syndrome subtype,"Blount disease, infantile","tibia vara, infantile|Osteochondrosis deformans tibiae, infantile" +GARD:0015121,Orphanet+OMIM,OMIM:191100,Subtype of disorder,Disease subtype,Tuberous sclerosis 1,Tuberous sclerosis complex|tuberose sclerosis +GARD:0015122,Orphanet+OMIM,OMIM:191480,Subtype of disorder,Disease subtype,Uncombable hair syndrome 1,pili trianguli et canaliculi|Uncombable hair syndrome +GARD:0015123,Orphanet+OMIM,OMIM:192430,Subtype of disorder,Malformation syndrome subtype,Velocardiofacial syndrome,Chromosome 22q11.2 deletion syndrome|vcf syndrome|shprintzen vcf syndrome +GARD:0015124,Orphanet+OMIM,OMIM:194070,Subtype of disorder,Disease subtype,Wilms tumor 1,Nephroblastoma +GARD:0015125,Orphanet+OMIM,OMIM:194090,Subtype of disorder,Disease subtype,Wilms tumor 3, +GARD:0015126,Orphanet+OMIM,OMIM:194380,Subtype of disorder,Disease subtype,Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema,"xerocytosis, hereditary|Dehydrated hereditary stomatocytosis|pseudohyperkalemia, familial, 1, due to red cell leak|desiccytosis, hereditary|pseudohyperkalemia edinburgh" +GARD:0015127,Orphanet+OMIM,OMIM:200100,Subtype of disorder,Disease subtype,Abetalipoproteinemia,Acanthocytosis|mtp deficiency|bassen-kornzweig syndrome|microsomal triglyceride transfer protein deficiency +GARD:0015128,Orphanet+OMIM,OMIM:201000,Subtype of disorder,Malformation syndrome subtype,Carpenter syndrome 1,Carpenter syndrome|acrocephalopolysyndactyly type ii|acps ii +GARD:0015129,Orphanet+OMIM,OMIM:201300,Subtype of disorder,Disease subtype,"Neuropathy, hereditary sensory and autonomic, type iia","acroosteolysis, giaccai type|neuropathy, hereditary sensory radicular, autosomal recessive|morvan disease|neuropathy, hereditary sensory, type iia|neuropathy, congenital sensory|acroosteolysis, neurogenic|hsn iia|Hsan iia|neuropathy, progressive sensory, of children" +GARD:0015130,Orphanet+OMIM,OMIM:201310,Subtype of disorder,Malformation syndrome subtype,"Acrorenal syndrome, autosomal recessive", +GARD:0015131,Orphanet+OMIM,OMIM:202155,Subtype of disorder,Disease subtype,"Adrenal hypoplasia, cytomegalic type", +GARD:0015132,Orphanet+OMIM,OMIM:202300,Subtype of disorder,Disease subtype,"Adrenocortical carcinoma, hereditary", +GARD:0015133,Orphanet+OMIM,OMIM:202355,Subtype of disorder,Disease subtype,Adrenocortical unresponsiveness to acth with postreceptor defect,Familial glucocorticoid deficiency due to defect distal to acth receptor +GARD:0015134,Orphanet+OMIM,OMIM:202370,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 2b, +GARD:0015135,Orphanet+OMIM,OMIM:203655,Subtype of disorder,Disease subtype,Alopecia universalis congenita,"Atrichia, generalized" +GARD:0015136,Orphanet+OMIM,OMIM:204650,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, type ic","amelogenesis imperfecta, hypoplastic, with or without open-bite malocclusion, autosomal recessive|Amelogenesis imperfecta, local hypoplastic type, autosomal recessive" +GARD:0015137,Orphanet+OMIM,OMIM:205100,Subtype of disorder,Disease subtype,"Amyotrophic lateral sclerosis 2, juvenile","Als, juvenile" +GARD:0015138,Orphanet+OMIM,OMIM:205250,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis with polyglucosan bodies, +GARD:0015139,Orphanet+OMIM,OMIM:208085,Subtype of disorder,Malformation syndrome subtype,"Arthrogryposis, renal dysfunction, and cholestasis 1",Arc syndrome +GARD:0015140,Orphanet+OMIM,OMIM:208500,Subtype of disorder,Malformation syndrome subtype,Short-rib thoracic dysplasia 1 with or without polydactyly, +GARD:0015141,Orphanet+OMIM,OMIM:208910,Subtype of disorder,Disease subtype,Ataxia-telangiectasia with generalized skin pigmentation and early death, +GARD:0015142,Orphanet+OMIM,OMIM:210400,Subtype of disorder,Malformation syndrome subtype,"Bifid nose, autosomal recessive","nose, median cleft of|Median fissure of nose" +GARD:0015143,Orphanet+OMIM,OMIM:210600,Subtype of disorder,Malformation syndrome subtype,Seckel syndrome 1,bird-headed dwarfism|nanocephalic dwarfism|seckel-type dwarfism|microcephalic primordial dwarfism i|Sckl +GARD:0015144,Orphanet+OMIM,OMIM:210710,Subtype of disorder,Malformation syndrome subtype,"Microcephalic osteodysplastic primordial dwarfism, type i","brachymelic primordial dwarfism|low-birth-weight dwarfism with skeletal dysplasia|taybi-linder syndrome|osteodysplastic primordial dwarfism, type i|cephaloskeletal dysplasia|Mopd i" +GARD:0015145,Orphanet+OMIM,OMIM:210730,Subtype of disorder,Malformation syndrome subtype,"Microcephalic osteodysplastic primordial dwarfism, type iii","mopd, sicilian fairy type|osteodysplastic primordial dwarfism, type iii|mopd, caroline crachami type|microcephalic osteodysplastic primordial dwarfism, caroline crachami type|microcephalic osteodysplastic primordial dwarfism, sicilian fairy type|Mopd iii" +GARD:0015146,Orphanet+OMIM,OMIM:211900,Subtype of disorder,Clinical subtype,"Tumoral calcinosis, hyperphosphatemic, familial, 1","Tumoral calcinosis, hyperphosphatemic, familial|lipocalcinogranulomatosis|tumoral calcinosis, primary hyperphosphatemic|teutschlaender disease, familial|cortical hyperostosis with hyperphosphatemia|morbus teutschlaender|calcinosis, tumoral, with hyperphosphatemia|hyperostosis-hyperphosphatemia syndrome|hyperostosis with hyperphosphatemia" +GARD:0015148,Orphanet+OMIM,OMIM:212080,Subtype of disorder,Disease subtype,"Cardiac lipidosis, familial", +GARD:0015149,Orphanet+OMIM,OMIM:214110,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 2a (zellweger), +GARD:0015150,Orphanet+OMIM,OMIM:214150,Subtype of disorder,Clinical subtype,Cerebrooculofacioskeletal syndrome 1,"pena-shokeir syndrome, type ii|Cofs syndrome" +GARD:0015151,Orphanet+OMIM,OMIM:214300,Subtype of disorder,Malformation syndrome subtype,"Klippel-feil syndrome 2, autosomal recessive","Kfs, autosomal recessive|cervical vertebral fusion, autosomal recessive" +GARD:0015152,Orphanet+OMIM,OMIM:215450,Subtype of disorder,Disease subtype,"Chorea, benign familial", +GARD:0015153,Orphanet+OMIM,OMIM:216360,Subtype of disorder,Disease subtype,Coach syndrome 1,"cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|Coach syndrome|joubert syndrome with congenital hepatic fibrosis" +GARD:0015154,Orphanet+OMIM,OMIM:216400,Subtype of disorder,Clinical subtype,Cockayne syndrome a, +GARD:0015155,Orphanet+OMIM,OMIM:216950,Subtype of disorder,Disease subtype,Complement component c1r/c1s deficiency,C1r/c1s deficiency +GARD:0015156,Orphanet+OMIM,OMIM:218300,Subtype of disorder,Malformation syndrome subtype,Craniodiaphyseal dysplasia, +GARD:0015157,Orphanet+OMIM,OMIM:219100,Subtype of disorder,Disease subtype,"Cutis laxa, autosomal recessive, type ia","cutis laxa, autosomal recessive|Arcl1" +GARD:0015158,Orphanet+OMIM,OMIM:220110,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 1",Mitochondrial complex iv deficiency|cytochrome c oxidase deficiency|cox deficiency +GARD:0015159,Orphanet+OMIM,OMIM:220111,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 5","Cytochrome c oxidase deficiency, french canadian type|cox deficiency, french canadian type|cox deficiency, saguenay-lac-saint-jean type|leigh syndrome, french canadian type|leigh syndrome, saguenay-lac-saint-jean type" +GARD:0015160,Orphanet+OMIM,OMIM:220210,Subtype of disorder,Malformation syndrome subtype,Ritscher-schinzel syndrome 1,3c syndrome|dandy-walker-like malformation with atrioventricular septal defect|Craniocerebellocardiac dysplasia +GARD:0015161,Orphanet+OMIM,OMIM:222400,Subtype of disorder,Morphological anomaly subtype,Diaphragmatic hernia 2, +GARD:0015162,Orphanet+OMIM,OMIM:224690,Subtype of disorder,Malformation syndrome subtype,Meier-gorlin syndrome 1,"Ear, patella, short stature syndrome|meier-gorlin syndrome|microtia, absent patellae, micrognathia syndrome" +GARD:0015163,Orphanet+OMIM,OMIM:224900,Subtype of disorder,Etiological subtype,"Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive","Ectodermal dysplasia, hypohidrotic|ectodermal dysplasia, anhidrotic" +GARD:0015164,Orphanet+OMIM,OMIM:225200,Subtype of disorder,Malformation syndrome subtype,Ectopia lentis et pupillae,Ectopia lentis with ectopia of pupil +GARD:0015165,Orphanet+OMIM,OMIM:225250,Subtype of disorder,Morphological anomaly subtype,"Hypothyroidism, congenital, nongoitrous, 5", +GARD:0015166,Orphanet+OMIM,OMIM:225300,Subtype of disorder,Malformation syndrome subtype,Split-hand/foot malformation 6,"Ectrodactyly, autosomal recessive" +GARD:0015167,Orphanet+OMIM,OMIM:225750,Subtype of disorder,Disease subtype,Aicardi-goutieres syndrome 1,"encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|cree encephalitis|pseudotoxoplasmosis syndrome|Ags" +GARD:0015168,Orphanet+OMIM,OMIM:227645,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group c","fanconi pancytopenia, type 3|Facc" +GARD:0015169,Orphanet+OMIM,OMIM:227646,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group d2","fanconi anemia, complementation group d|Fad2|fanconi pancytopenia, type 4" +GARD:0015170,Orphanet+OMIM,OMIM:227650,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group a",Fanconi anemia +GARD:0015171,Orphanet+OMIM,OMIM:228020,Subtype of disorder,Disease subtype,"Fascial dystrophy, congenital", +GARD:0015172,Orphanet+OMIM,OMIM:231050,Subtype of disorder,Malformation syndrome subtype,Geleophysic dysplasia 1, +GARD:0015173,Orphanet+OMIM,OMIM:232240,Subtype of disorder,Clinical subtype,Glycogen storage disease ic,Gsd ic +GARD:0015174,Orphanet+OMIM,OMIM:233420,Subtype of disorder,Malformation syndrome subtype,"46,xy sex reversal 7","46,xy gonadal dysgenesis, partial or complete, dhh-related|gonadal dysgenesis, xy, male-limited|46,xy sex reversal, partial or complete, dhh-related" +GARD:0015175,Orphanet+OMIM,OMIM:233690,Subtype of disorder,Disease subtype,"Granulomatous disease, chronic, autosomal recessive, 4","cyba deficiency|cgd due to deficiency of the alpha subunit of cytochrome b|cgd, autosomal recessive cytochrome b-negative|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative" +GARD:0015176,Orphanet+OMIM,OMIM:233700,Subtype of disorder,Disease subtype,"Granulomatous disease, chronic, autosomal recessive, 1","soluble oxidase component ii deficiency|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i|neutrophil cytosol factor 1 deficiency|granulomatous disease, chronic, due to ncf1 deficiency|cgd, autosomal recessive cytochrome b-positive, type i|ncf1 deficiency|soc2 deficiency|p47-phox deficiency" +GARD:0015177,Orphanet+OMIM,OMIM:233710,Subtype of disorder,Disease subtype,"Granulomatous disease, chronic, autosomal recessive, 2","Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii|ncf2 deficiency|granulomatous disease, chronic, due to ncf2 deficiency|neutrophil cytosol factor 2 deficiency|p67-phox deficiency|cgd, autosomal recessive cytochrome b-positive, type ii" +GARD:0015179,Orphanet+OMIM,OMIM:235370,Subtype of disorder,Disease subtype,Hemolytic anemia with thermal sensitivity of red cells, +GARD:0015180,Orphanet+OMIM,OMIM:235500,Subtype of disorder,Disease subtype,"Hemosiderosis, pulmonary, with deficiency of gamma-a globulin", +GARD:0015181,Orphanet+OMIM,OMIM:235510,Subtype of disorder,Malformation syndrome subtype,Hennekam lymphangiectasia-lymphedema syndrome 1,"Hennekam lymphangiectasia-lymphedema syndrome|lymphatic dysplasia, generalized" +GARD:0015182,Orphanet+OMIM,OMIM:236680,Subtype of disorder,Malformation syndrome subtype,Hydrolethalus syndrome 1, +GARD:0015183,Orphanet+OMIM,OMIM:238710,Subtype of disorder,Disease subtype,Hyperlysinemia due to defect in lysine transport into mitochondria, +GARD:0015184,Orphanet+OMIM,OMIM:240500,Subtype of disorder,Disease subtype,"Immunodeficiency, common variable, 2",Antibody deficiency due to taci defect|hypogammaglobulinemia due to taci deficiency +GARD:0015185,Orphanet+OMIM,OMIM:241600,Subtype of disorder,Disease subtype,Immunodeficiency 43,"hypoproteinemia, hypercatabolic|b2m deficiency|Beta-2-microglobulin deficiency" +GARD:0015186,Orphanet+OMIM,OMIM:242050,Subtype of disorder,Malformation syndrome subtype,"Hypouricemia, hypercalcinuria, and decreased bone density", +GARD:0015187,Orphanet+OMIM,OMIM:242100,Subtype of disorder,Disease subtype,"Ichthyosis, congenital, autosomal recessive 2","Collodion baby, self-healing|ichthyosiform erythroderma, nonbullous congenital, 1, formerly|ichthyosiform erythroderma, brocq congenital, nonbullous form, formerly" +GARD:0015188,Orphanet+OMIM,OMIM:242860,Subtype of disorder,Malformation syndrome subtype,Immunodeficiency-centromeric instability-facial anomalies syndrome 1,"Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|centromeric instability, immunodeficiency syndrome|immunodeficiency syndrome, variable" +GARD:0015189,Orphanet+OMIM,OMIM:243310,Subtype of disorder,Malformation syndrome subtype,Baraitser-winter syndrome 1,"pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|fryns-aftimos syndrome|cerebrofrontofacial syndrome|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|Iris coloboma with ptosis, hypertelorism, and mental retardation" +GARD:0015190,Orphanet+OMIM,OMIM:243320,Subtype of disorder,Disease subtype,"Intrinsic factor and r binder, combined congenital deficiency of", +GARD:0015191,Orphanet+OMIM,OMIM:245300,Subtype of disorder,Disease subtype,"Kuru, susceptibility to", +GARD:0015192,Orphanet+OMIM,OMIM:246300,Subtype of disorder,Disease subtype,"Leprosy, susceptibility to, 3", +GARD:0015193,Orphanet+OMIM,OMIM:246560,Subtype of disorder,Malformation syndrome subtype,Split-hand/foot malformation 3, +GARD:0015194,Orphanet+OMIM,OMIM:247650,Subtype of disorder,Disease subtype,Lymphokine deficiency, +GARD:0015195,Orphanet+OMIM,OMIM:249210,Subtype of disorder,Malformation syndrome subtype,Megacystis-microcolon-intestinal hypoperistalsis syndrome 1,berdon syndrome|Megacystis-microcolon-intestinal hypoperistalsis syndrome +GARD:0015196,Orphanet+OMIM,OMIM:250790,Subtype of disorder,Disease subtype,Methemoglobinemia and ambiguous genitalia,"methemoglobinemia due to deficiency of cytochrome b5, formerly|Isolated 17,20-lyase deficiency, pure|methemoglobinemia type iv, formerly" +GARD:0015197,Orphanet+OMIM,OMIM:250800,Subtype of disorder,Disease subtype,Methemoglobinemia due to deficiency of methemoglobin reductase,"Nadh-dependent methemoglobin reductase deficiency|methemoglobinemia, congenital, autosomal recessive|nadh-cytochrome b5 reductase deficiency" +GARD:0015198,Orphanet+OMIM,OMIM:251200,Subtype of disorder,Etiological subtype,"Microcephaly 1, primary, autosomal recessive",premature chromosome condensation syndrome|pcc syndrome|Premature chromosome condensation with microcephaly and mental retardation +GARD:0015199,Orphanet+OMIM,OMIM:251300,Subtype of disorder,Malformation syndrome subtype,Galloway-mowat syndrome 1,"nephrosis-neuronal dysmigration syndrome|Microcephaly, hiatal hernia, and nephrotic syndrome|nephrosis-microcephaly syndrome|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|spinocerebellar ataxia, autosomal recessive 5, formerly" +GARD:0015200,Orphanet+OMIM,OMIM:251505,Subtype of disorder,Malformation syndrome subtype,"Microphthalmia, isolated, with coloboma 4",Microphthalmia with colobomatous cyst +GARD:0015201,Orphanet+OMIM,OMIM:252010,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 1","nadh:q(1) oxidoreductase deficiency|nadh-coenzyme q reductase deficiency|Mitochondrial complex i deficiency|mitochondrial nadh dehydrogenase component of complex i, deficiency of" +GARD:0015202,Orphanet+OMIM,OMIM:252011,Subtype of disorder,Disease subtype,"Mitochondrial complex ii deficiency, nuclear type 1",succinate dehydrogenase deficiency|Succinate coq reductase deficiency +GARD:0015203,Orphanet+OMIM,OMIM:252250,Subtype of disorder,Disease subtype,Monocyte chemotactic disorder, +GARD:0015204,Orphanet+OMIM,OMIM:253280,Subtype of disorder,Disease subtype|Malformation syndrome subtype,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3","Walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related" +GARD:0015205,Orphanet+OMIM,OMIM:253800,Subtype of disorder,Disease subtype|Malformation syndrome subtype,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4","walker-warburg syndrome or muscle-eye-brain disease, fktn-related|Fukuyama congenital muscular dystrophy" +GARD:0015206,Orphanet+OMIM,OMIM:254300,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 10","cms ib, formerly|myasthenic myopathy, formerly|congenital myasthenic syndrome type ib, formerly|Myasthenia, limb-girdle, familial, formerly" +GARD:0015207,Orphanet+OMIM,OMIM:255160,Subtype of disorder,Disease subtype,"Myopathy, myosin storage, autosomal recessive","Myopathy, hyaline body, autosomal recessive" +GARD:0015208,Orphanet+OMIM,OMIM:255200,Subtype of disorder,Disease subtype,"Myopathy, centronuclear, 2","Myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive" +GARD:0015209,Orphanet+OMIM,OMIM:256030,Subtype of disorder,Disease subtype,Nemaline myopathy 2, +GARD:0015210,Orphanet+OMIM,OMIM:256370,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 4", +GARD:0015211,Orphanet+OMIM,OMIM:256700,Subtype of disorder,Disease subtype,"Neuroblastoma, susceptibility to, 1", +GARD:0015212,Orphanet+OMIM,OMIM:257270,Subtype of disorder,Disease subtype,"Night blindness, congenital stationary, type 1b","Night blindness, congenital stationary, complete, autosomal recessive|csnb, complete, autosomal recessive" +GARD:0015213,Orphanet+OMIM,OMIM:257850,Subtype of disorder,Malformation syndrome subtype,"Oculodentodigital dysplasia, autosomal recessive","odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|Oddd, autosomal recessive" +GARD:0015214,Orphanet+OMIM,OMIM:258150,Subtype of disorder,Disease subtype,Spermatogenic failure 1,Oligosynaptic infertility|oligochiasmatic infertility +GARD:0015215,Orphanet+OMIM,OMIM:258450,Subtype of disorder,Disease subtype,"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1","Progressive external ophthalmoplegia, autosomal recessive 1" +GARD:0015216,Orphanet+OMIM,OMIM:259100,Subtype of disorder,Malformation syndrome subtype,"Hypertrophic osteoarthropathy, primary, autosomal recessive, 1","pdp, autosomal recessive|touraine-solente-gole syndrome|Pho, autosomal recessive|pachydermoperiostosis, autosomal recessive" +GARD:0015217,Orphanet+OMIM,OMIM:259200,Subtype of disorder,Malformation syndrome subtype,"Blount disease, adolescent","Osteochondrosis deformans tibiae, adolescent|tibia vara, adolescent" +GARD:0015218,Orphanet+OMIM,OMIM:259750,Subtype of disorder,Malformation syndrome subtype,"Osteoporosis, juvenile",Idiopathic juvenile osteoporosis +GARD:0015219,Orphanet+OMIM,OMIM:260130,Subtype of disorder,Disease subtype,"Pachyonychia congenita, autosomal recessive", +GARD:0015220,Orphanet+OMIM,OMIM:260370,Subtype of disorder,Morphological anomaly subtype,Pancreatic agenesis 1,"Pagen|pancreatic hypoplasia, congenital" +GARD:0015221,Orphanet+OMIM,OMIM:260400,Subtype of disorder,Disease subtype,Shwachman-diamond syndrome 1,"Shwachman-diamond syndrome|lipomatosis of pancreas, congenital|pancreatic insufficiency and bone marrow dysfunction|shwachman-bodian syndrome" +GARD:0015222,Orphanet+OMIM,OMIM:262600,Subtype of disorder,Disease subtype,"Pituitary hormone deficiency, combined, 2",Panhypopituitarism|hanhart dwarfism|pituitary dwarfism iii|ateliotic dwarfism with hypogonadism +GARD:0015223,Orphanet+OMIM,OMIM:263210,Subtype of disorder,Disease subtype,Gillessen-kaesbach-nishimura syndrome,"Polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia" +GARD:0015224,Orphanet+OMIM,OMIM:263520,Subtype of disorder,Malformation syndrome subtype,Short-rib thoracic dysplasia 6 with or without polydactyly,"short rib-polydactyly syndrome, type iia|majewski syndrome|polydactyly with neonatal chondrodystrophy, type ii|Short rib-polydactyly syndrome, type ii|srps, type ii" +GARD:0015225,Orphanet+OMIM,OMIM:264050,Subtype of disorder,Malformation syndrome subtype,Prenatal bowing, +GARD:0015226,Orphanet+OMIM,OMIM:266510,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 3b, +GARD:0015227,Orphanet+OMIM,OMIM:266920,Subtype of disorder,Disease subtype,Short-rib thoracic dysplasia 9 with or without polydactyly,"renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome|Mainzer-saldino syndrome" +GARD:0015228,Orphanet+OMIM,OMIM:267200,Subtype of disorder,Disease subtype,Renal tubular acidosis iii,"Rta, dislocation type|rta, bicarbonate-wasting type" +GARD:0015229,Orphanet+OMIM,OMIM:267300,Subtype of disorder,Clinical subtype,"Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss","rta with progressive nerve deafness|renal tubular acidosis with progressive nerve deafness|Renal tubular acidosis, autosomal recessive, with progressive nerve deafness" +GARD:0015230,Orphanet+OMIM,OMIM:268025,Subtype of disorder,Disease subtype,"Retinitis pigmentosa, late-adult onset","Retinitis pigmentosa, 'senile'" +GARD:0015231,Orphanet+OMIM,OMIM:268060,Subtype of disorder,Disease subtype,"Retinopathy, pericentral pigmentary, autosomal recessive","Retinitis pigmentosa, pericentral" +GARD:0015232,Orphanet+OMIM,OMIM:268240,Subtype of disorder,Disease subtype,Rheumatic fever-related antigen,"Rheumatic fever, acute, susceptibility to, included" +GARD:0015233,Orphanet+OMIM,OMIM:269500,Subtype of disorder,Malformation syndrome subtype,Sclerosteosis 1,Sost|cortical hyperostosis with syndactyly +GARD:0015234,Orphanet+OMIM,OMIM:269720,Subtype of disorder,Disease subtype,"Seizures, benign familial neonatal, autosomal recessive","epilepsy, benign familial neonatal, autosomal recessive|convulsions, benign familial neonatal, autosomal recessive|Bfns, autosomal recessive" +GARD:0015235,Orphanet+OMIM,OMIM:270960,Subtype of disorder,Disease subtype,Spermatogenic failure 4,azoospermia with maturation arrest|Azoospermia due to perturbations of meiosis|spermatogenesis arrest +GARD:0015236,Orphanet+OMIM,OMIM:270970,Subtype of disorder,Disease subtype,"Spherocytosis, type 3","Spherocytosis, hereditary, 3" +GARD:0015237,Orphanet+OMIM,OMIM:271600,Subtype of disorder,Disease subtype,"Spondyloepiphyseal dysplasia tarda, autosomal recessive", +GARD:0015238,Orphanet+OMIM,OMIM:273395,Subtype of disorder,Malformation syndrome subtype,Tetraamelia syndrome 1,"Tetraamelia syndrome, autosomal recessive" +GARD:0015239,Orphanet+OMIM,OMIM:273750,Subtype of disorder,Malformation syndrome subtype,Three m syndrome 1,le merrer syndrome|gloomy face syndrome|dolichospondylic dysplasia|3m syndrome +GARD:0015240,Orphanet+OMIM,OMIM:273800,Subtype of disorder,Disease subtype,Glanzmann thrombasthenia 1,"thrombasthenia of glanzmann and naegeli|platelet glycoprotein iib-iiia deficiency|glanzmann thrombasthenia|gp iib-iiia complex deficiency|Bleeding disorder, platelet-type, 2|platelet fibrinogen receptor deficiency|glycoprotein complex iib-iiia deficiency" +GARD:0015241,Orphanet+OMIM,OMIM:276901,Subtype of disorder,Clinical subtype,"Usher syndrome, type iia", +GARD:0015242,Orphanet+OMIM,OMIM:276902,Subtype of disorder,Clinical subtype,"Usher syndrome, type iiia","Usher syndrome, type iii" +GARD:0015243,Orphanet+OMIM,OMIM:277180,Subtype of disorder,Morphological anomaly subtype,"Vas deferens, congenital bilateral aplasia of",Cavd +GARD:0015244,Orphanet+OMIM,OMIM:277470,Subtype of disorder,Malformation syndrome subtype,"Pontocerebellar hypoplasia, type 2a",Pch2|volendam neurodegenerative disease|pontocerebellar hypoplasia with progressive cerebral atrophy +GARD:0015245,Orphanet+OMIM,OMIM:277580,Subtype of disorder,Disease subtype,"Waardenburg syndrome, type 4a","ws4|Waardenburg syndrome, type iva|waardenburg syndrome with hirschsprung disease, type 4a|waardenburg-shah syndrome|shah-waardenburg syndrome" +GARD:0015246,Orphanet+OMIM,OMIM:277600,Subtype of disorder,Malformation syndrome subtype,Weill-marchesani syndrome 1,"mesodermal dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome|Weill-marchesani syndrome, autosomal recessive" +GARD:0015247,Orphanet+OMIM,OMIM:278150,Subtype of disorder,Disease subtype,Hypotrichosis 8,"Hypotrichosis, localized, autosomal recessive 3" +GARD:0015248,Orphanet+OMIM,OMIM:615511,Subtype of disorder,Disease subtype,Myopathy due to myoadenylate deaminase deficiency,"myoadenylate deaminase deficiency, myopathy due to|ampd1 deficiency|Adenosine monophosphate deaminase-1 deficiency, myopathy due to" +GARD:0015249,Orphanet+OMIM,OMIM:278850,Subtype of disorder,Malformation syndrome subtype,"46,xx sex reversal 2", +GARD:0015250,Orphanet+OMIM,OMIM:300001,Subtype of disorder,Disease subtype,"Ichthyosis, x-linked, without steroid sulfatase deficiency", +GARD:0015251,Orphanet+OMIM,OMIM:300071,Subtype of disorder,Disease subtype,"Night blindness, congenital stationary, type 2a","night blindness, congenital stationary, type 2|Csnb, incomplete, x-linked" +GARD:0015253,Orphanet+OMIM,OMIM:300147,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, x-linked 1", +GARD:0015254,Orphanet+OMIM,OMIM:300260,Subtype of disorder,Malformation syndrome subtype,"Intellectual developmental disorder, x-linked, syndromic, lubs type","mental retardation, x-linked, with recurrent respiratory infections|Lubs x-linked mental retardation syndrome|mecp2 duplication syndrome" +GARD:0015255,Orphanet,ORPHA:172,Disorder,Disease,Progressive familial intrahepatic cholestasis,PFIC +GARD:0015256,Orphanet+OMIM,OMIM:300388,Subtype of disorder,Clinical subtype,"Polymicrogyria, bilateral perisylvian, x-linked", +GARD:0015257,Orphanet+OMIM,OMIM:300514,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group b","Facb|fanconi pancytopenia, type 2" +GARD:0015258,Orphanet+OMIM,OMIM:300580,Subtype of disorder,Disease subtype,"Myopathy, congenital, with fiber-type disproportion, x-linked", +GARD:0015259,Orphanet+OMIM,OMIM:300590,Subtype of disorder,Malformation syndrome subtype,Cornelia de lange syndrome 2,"Cornelia de lange syndrome, x-linked|cdls, x-linked" +GARD:0015260,Orphanet+OMIM,OMIM:300704,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, x-linked 2", +GARD:0015261,Orphanet+OMIM,OMIM:300717,Subtype of disorder,Disease subtype,"Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset", +GARD:0015262,Orphanet+OMIM,OMIM:300718,Subtype of disorder,Disease subtype,"Reducing body myopathy, x-linked 1b, with late childhood or adult onset", +GARD:0015263,Orphanet+OMIM,OMIM:300770,Subtype of disorder,Disease subtype,"Surfactant metabolism dysfunction, pulmonary, 4","csf2ra deficiency|Pulmonary alveolar proteinosis, congenital, 4|pap due to csf2ra deficiency" +GARD:0015264,Orphanet+OMIM,OMIM:300799,Subtype of disorder,Malformation syndrome subtype,"Intellectual developmental disorder, x-linked, syndromic, raymond type","Mental retardation, x-linked, syndromic, raymond type" +GARD:0015265,Orphanet+OMIM,OMIM:300804,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 10, +GARD:0015266,Orphanet+OMIM,OMIM:300815,Subtype of disorder,Malformation syndrome subtype,Chromosome xq28 duplication syndrome, +GARD:0015267,Orphanet+OMIM,OMIM:300833,Subtype of disorder,Malformation syndrome subtype,"46,xx sex reversal 3", +GARD:0015268,Orphanet+OMIM,OMIM:300834,Subtype of disorder,Disease subtype,"Macular degeneration, x-linked atrophic", +GARD:0015269,Orphanet+OMIM,OMIM:300857,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia, +GARD:0015270,Orphanet+OMIM,OMIM:300867,Subtype of disorder,Malformation syndrome subtype,Kabuki syndrome 2, +GARD:0015271,Orphanet+OMIM,OMIM:300882,Subtype of disorder,Malformation syndrome subtype,Cornelia de lange syndrome 5, +GARD:0015272,Orphanet+OMIM,OMIM:300887,Subtype of disorder,Malformation syndrome subtype,Linear skin defects with multiple congenital anomalies 2,"Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies" +GARD:0015273,Orphanet+OMIM,OMIM:300918,Subtype of disorder,Disease subtype,"Olmsted syndrome, x-linked","Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked" +GARD:0015274,Orphanet+OMIM,OMIM:300943,Subtype of disorder,Disease subtype,"Pituitary adenoma 2, growth hormone-secreting","Acromegaly due to pituitary adenoma 2|acromegaly, x-linked" +GARD:0015275,Orphanet+OMIM,OMIM:300946,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 14 with mandibulofacial dysostosis, +GARD:0015276,Orphanet+OMIM,OMIM:300952,Subtype of disorder,Malformation syndrome subtype,Linear skin defects with multiple congenital anomalies 3,Linear skin defects with cardiomyopathy and other congenital anomalies +GARD:0015277,Orphanet+OMIM,OMIM:300953,Subtype of disorder,Disease subtype,"Trichothiodystrophy 5, nonphotosensitive", +GARD:0015278,Orphanet+OMIM,OMIM:300963,Subtype of disorder,Malformation syndrome subtype,Ritscher-schinzel syndrome 2, +GARD:0015279,Orphanet+OMIM,OMIM:300985,Subtype of disorder,Morphological anomaly subtype,"Vas deferens, congenital bilateral aplasia of, x-linked", +GARD:0015280,Orphanet+OMIM,OMIM:300991,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 36, x-linked","Ciliary dyskinesia, primary, 36, with or without situs inversus" +GARD:0015281,Orphanet+OMIM,OMIM:301006,Subtype of disorder,Malformation syndrome subtype,"Galloway-mowat syndrome 2, x-linked", +GARD:0015282,Orphanet+OMIM,OMIM:301008,Subtype of disorder,Disease subtype,"Intellectual developmental disorder, x-linked, syndromic, houge type","Mental retardation, x-linked, syndromic, houge type" +GARD:0015283,Orphanet+OMIM,OMIM:301020,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 12", +GARD:0015284,Orphanet+OMIM,OMIM:301021,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 30", +GARD:0015285,Orphanet+OMIM,OMIM:301028,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 20", +GARD:0015286,Orphanet+OMIM,OMIM:301058,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 90, +GARD:0015287,Orphanet+OMIM,OMIM:302045,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 3b","Cardiomyopathy, dilated, x-linked" +GARD:0015289,Orphanet+OMIM,OMIM:304800,Subtype of disorder,Disease subtype,"Diabetes insipidus, nephrogenic, 1, x-linked","Ndi|diabetes insipidus, nephrogenic, type i" +GARD:0015290,Orphanet+OMIM,OMIM:304950,Subtype of disorder,Disease subtype,"Dyggve-melchior-clausen syndrome, x-linked", +GARD:0015291,Orphanet+OMIM,OMIM:305350,Subtype of disorder,Disease subtype,"Epidermodysplasia verruciformis, x-linked", +GARD:0015292,Orphanet+OMIM,OMIM:305390,Subtype of disorder,Disease subtype,"Exudative vitreoretinopathy 2, x-linked","Exudative vitreoretinopathy, familial, 2|evrx|fevr, x-linked" +GARD:0015293,Orphanet+OMIM,OMIM:305620,Subtype of disorder,Disease subtype,Frontometaphyseal dysplasia 1,Fmd +GARD:0015294,Orphanet+OMIM,OMIM:306400,Subtype of disorder,Disease subtype,"Granulomatous disease, chronic, x-linked","Cgd|cytochrome b-negative granulomatous disease, chronic, x-linked|chronic granulomatous disease, x-linked" +GARD:0015295,Orphanet+OMIM,OMIM:306950,Subtype of disorder,Morphological anomaly subtype,"Hernia, anterior diaphragmatic", +GARD:0015296,Orphanet+OMIM,OMIM:307830,Subtype of disorder,Malformation syndrome subtype,"Hypouricemia, familial renal, due to tubular hypersecretion", +GARD:0015297,Orphanet+OMIM,OMIM:308205,Subtype of disorder,Disease subtype,"Ifap syndrome 1, with or without bresheck syndrome","Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia" +GARD:0015298,Orphanet+OMIM,OMIM:308350,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 1,"xmesid|ohtahara syndrome, x-linked|west syndrome, x-linked|infantile epileptic-dyskinetic encephalopathy|infantile spasm syndrome, x-linked 1|Epileptic encephalopathy, early infantile, 1" +GARD:0015299,Orphanet+OMIM,OMIM:308800,Subtype of disorder,Disease subtype,"Keratosis follicularis spinulosa decalvans, x-linked",Keratosis follicularis spinulosa decalvans cum ophiasi +GARD:0015300,Orphanet+OMIM,OMIM:308905,Subtype of disorder,Disease subtype,"Leber hereditary optic neuropathy, modifier of","lhon, modifier of|Leber optic atrophy, susceptibility to" +GARD:0015301,Orphanet+OMIM,OMIM:308990,Subtype of disorder,Clinical subtype,"Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis", +GARD:0015302,Orphanet+OMIM,OMIM:309120,Subtype of disorder,Disease subtype,"Spermatogenic failure, x-linked, 2",Male infertility from defect in meiosis +GARD:0015304,Orphanet+OMIM,OMIM:309800,Subtype of disorder,Malformation syndrome subtype,"Microphthalmia, syndromic 1","microphthalmia, syndromic 4, formerly|maa, formerly|anop1, formerly|lenz dysplasia|Lenz microphthalmia syndrome" +GARD:0015305,Orphanet+OMIM,OMIM:310468,Subtype of disorder,Clinical subtype,"Nephrolithiasis, x-linked recessive, with renal failure","nephrolithiasis 1|Nephrolithiasis, x-linked recessive, type 1|urolithiasis, x-linked recessive, type 1" +GARD:0015306,Orphanet+OMIM,OMIM:310500,Subtype of disorder,Disease subtype,"Night blindness, congenital stationary, type 1a","hemeralopia-myopia|myopia-night blindness|Csnb, complete, x-linked|night blindness, congenital stationary, with myopia" +GARD:0015308,Orphanet+OMIM,OMIM:313350,Subtype of disorder,Malformation syndrome subtype,Split-hand/foot malformation 2, +GARD:0015309,Orphanet+OMIM,OMIM:314390,Subtype of disorder,Malformation syndrome subtype,"Vacterl association, x-linked, with or without hydrocephalus","Vacterl-h, x-linked" +GARD:0015310,Orphanet+OMIM,OMIM:400004,Subtype of disorder,Disease subtype,"Retinitis pigmentosa, y-linked", +GARD:0015311,Orphanet+OMIM,OMIM:500001,Subtype of disorder,Disease subtype,Leber optic atrophy and dystonia,"Leber hereditary optic neuropathy with dystonia|marsden syndrome|dystonia, familial, with visual failure and striatal lucencies" +GARD:0015312,Orphanet+OMIM,OMIM:500011,Subtype of disorder,Disease subtype,"Myopathy, lactic acidosis, and sideroblastic anemia 3", +GARD:0015313,Orphanet+OMIM,OMIM:598500,Subtype of disorder,Disease subtype,"Wolfram syndrome, mitochondrial form","didmoad syndrome, mitochondrial form|Diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form" +GARD:0015314,Orphanet+OMIM,OMIM:600110,Subtype of disorder,Disease subtype,Stargardt disease 3,"Macular dystrophy with flecks, type 3|stargardt-like macular dystrophy, autosomal dominant" +GARD:0015315,Orphanet+OMIM,OMIM:600155,Subtype of disorder,Disease subtype,"Hirschsprung disease, susceptibility to, 2", +GARD:0015316,Orphanet+OMIM,OMIM:600156,Subtype of disorder,Disease subtype,"Hirschsprung disease, susceptibility to, 5", +GARD:0015317,Orphanet+OMIM,OMIM:600416,Subtype of disorder,Disease subtype,"Muscular dystrophy, scapulohumeral", +GARD:0015319,Orphanet+OMIM,OMIM:600513,Subtype of disorder,Disease subtype,"Epilepsy, nocturnal frontal lobe, 1", +GARD:0015320,Orphanet+OMIM,OMIM:600630,Subtype of disorder,Disease subtype,Uv-sensitive syndrome 1, +GARD:0015321,Orphanet+OMIM,OMIM:600638,Subtype of disorder,Disease subtype,"Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement",Feom3 locus +GARD:0015322,Orphanet+OMIM,OMIM:600795,Subtype of disorder,Disease subtype,Frontotemporal dementia and/or amyotrophic lateral sclerosis 7,"Amyotrophic lateral sclerosis 17, formerly|frontotemporal dementia, chromosome 3-linked|amyotrophic lateral sclerosis, chmp2b-related" +GARD:0015323,Orphanet+OMIM,OMIM:600884,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1b", +GARD:0015324,Orphanet+OMIM,OMIM:600901,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group e",Face +GARD:0015325,Orphanet+OMIM,OMIM:600903,Subtype of disorder,Disease subtype,"Wiskott-aldrich syndrome, autosomal dominant", +GARD:0015326,Orphanet+OMIM,OMIM:600995,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 2","Nephrotic syndrome, steroid-resistant, autosomal recessive" +GARD:0015327,Orphanet+OMIM,OMIM:601202,Subtype of disorder,Clinical subtype,Cataract 24, +GARD:0015328,Orphanet+OMIM,OMIM:601363,Subtype of disorder,Disease subtype,Wilms tumor 4, +GARD:0015329,Orphanet+OMIM,OMIM:601399,Subtype of disorder,Disease subtype,"Platelet disorder, familial, with associated myeloid malignancy","Platelet disorder, aspirin-like|thrombocytopenia, familial, with propensity to acute myelogenous leukemia" +GARD:0015330,Orphanet+OMIM,OMIM:601462,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 1a, slow-channel","cms iia, formerly|Myasthenic syndrome, congenital, type iia, formerly" +GARD:0015331,Orphanet+OMIM,OMIM:601493,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction", +GARD:0015332,Orphanet+OMIM,OMIM:601494,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1d","Left ventricular noncompaction 6, included" +GARD:0015334,Orphanet+OMIM,OMIM:601518,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 1",Prca1 +GARD:0015335,Orphanet+OMIM,OMIM:601547,Subtype of disorder,Clinical subtype|Malformation syndrome subtype,"Cataract 3, multiple types","Cataract 3, multiple types, with or without microcornea|cataract, congenital, cerulean type, 2" +GARD:0015336,Orphanet+OMIM,OMIM:601583,Subtype of disorder,Disease subtype,Wilms tumor 5,"Wilms tumor, susceptibility to" +GARD:0015337,Orphanet+OMIM,OMIM:601813,Subtype of disorder,Disease subtype,Exudative vitreoretinopathy 4, +GARD:0015340,Orphanet+OMIM,OMIM:601992,Subtype of disorder,Disease subtype,Friedreich ataxia 2, +GARD:0015341,Orphanet+OMIM,OMIM:602078,Subtype of disorder,Disease subtype,"Fibrosis of extraocular muscles, congenital, 2","Feom2 locus|fibrosis of extraocular muscles, congenital, autosomal recessive" +GARD:0015342,Orphanet+OMIM,OMIM:602093,Subtype of disorder,Disease subtype,Cone dystrophy 3,Retinal cone dystrophy +GARD:0015343,Orphanet+OMIM,OMIM:602099,Subtype of disorder,Disease subtype,"Amyotrophic lateral sclerosis 5, juvenile", +GARD:0015344,Orphanet+OMIM,OMIM:602114,Subtype of disorder,Disease subtype,"Nephropathy, progressive tubulointerstitial, with cholestatic liver disease", +GARD:0015346,Orphanet+OMIM,OMIM:602483,Subtype of disorder,Malformation syndrome subtype,Auriculocondylar syndrome 1,Question mark ears syndrome +GARD:0015347,Orphanet+OMIM,OMIM:602497,Subtype of disorder,Malformation syndrome subtype,"Chondrodysplasia punctata, brachytelephalangic, autosomal",Brachytelephalangic chondrodysplasia punctata +GARD:0015348,Orphanet+OMIM,OMIM:602522,Subtype of disorder,Clinical subtype,"Bartter syndrome, type 4a, neonatal, with sensorineural deafness","Bartter syndrome, neonatal, with sensorineural deafness" +GARD:0015349,Orphanet+OMIM,OMIM:602540,Subtype of disorder,Disease subtype,"Ichthyosis, hystrix-like, with deafness",Hid syndrome +GARD:0015350,Orphanet+OMIM,OMIM:602722,Subtype of disorder,Clinical subtype,"Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss",Rtadr +GARD:0015351,Orphanet+OMIM,OMIM:602759,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 8", +GARD:0015352,Orphanet+OMIM,OMIM:603204,Subtype of disorder,Disease subtype,"Epilepsy, nocturnal frontal lobe, 2", +GARD:0015353,Orphanet+OMIM,OMIM:603278,Subtype of disorder,Disease subtype,Focal segmental glomerulosclerosis 1,"Glomerulosclerosis, focal segmental, 1" +GARD:0015354,Orphanet+OMIM,OMIM:603386,Subtype of disorder,Disease subtype,"Thyroid carcinoma, nonmedullary, with or without cell oxyphilia", +GARD:0015355,Orphanet+OMIM,OMIM:603467,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group f", +GARD:0015356,Orphanet+OMIM,OMIM:603649,Subtype of disorder,Disease subtype,Cone-rod dystrophy 7, +GARD:0015357,Orphanet+OMIM,OMIM:603688,Subtype of disorder,Disease subtype,Prostate cancer/brain cancer susceptibility,Pcbc|capb +GARD:0015358,Orphanet+OMIM,OMIM:603744,Subtype of disorder,Disease subtype,Papillary thyroid microcarcinoma, +GARD:0015359,Orphanet+OMIM,OMIM:603786,Subtype of disorder,Disease subtype,Stargardt disease 4, +GARD:0015360,Orphanet+OMIM,OMIM:603802,Subtype of disorder,Etiological subtype,Microcephaly with simplified gyral pattern, +GARD:0015361,Orphanet+OMIM,OMIM:603909,Subtype of disorder,Disease subtype,"Autoimmune lymphoproliferative syndrome, type iia","Autoimmune lymphoproliferative syndrome, type ii" +GARD:0015362,Orphanet+OMIM,OMIM:603965,Subtype of disorder,Disease subtype,Focal segmental glomerulosclerosis 2,"Glomerulosclerosis, focal segmental, 2" +GARD:0015363,Orphanet+OMIM,OMIM:604145,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1g", +GARD:0015364,Orphanet+OMIM,OMIM:604219,Subtype of disorder,Malformation syndrome subtype,"Cataract 9, multiple types","cataract, autosomal recessive congenital 1|cataract, autosomal dominant|Cataract 9, multiple types, with or without microcornea" +GARD:0015365,Orphanet+OMIM,OMIM:604288,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1h", +GARD:0015366,Orphanet+OMIM,OMIM:604317,Subtype of disorder,Etiological subtype,"Microcephaly 2, primary, autosomal recessive, with or without cortical malformations", +GARD:0015367,Orphanet+OMIM,OMIM:604321,Subtype of disorder,Etiological subtype,"Microcephaly 4, primary, autosomal recessive", +GARD:0015368,Orphanet+OMIM,OMIM:604348,Subtype of disorder,Disease subtype,"Advanced sleep phase syndrome, familial, 1", +GARD:0015370,Orphanet+OMIM,OMIM:604547,Subtype of disorder,Malformation syndrome subtype,"Van der woude syndrome 1, modifier of",Vwsm +GARD:0015372,Orphanet+OMIM,OMIM:604765,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1i", +GARD:0015373,Orphanet+OMIM,OMIM:604804,Subtype of disorder,Etiological subtype,"Microcephaly 3, primary, autosomal recessive", +GARD:0015374,Orphanet+OMIM,OMIM:604928,Subtype of disorder,Disease subtype,Wolfram syndrome 2, +GARD:0015375,Orphanet+OMIM,OMIM:604931,Subtype of disorder,Malformation syndrome subtype,Cortisone reductase deficiency 1, +GARD:0015376,Orphanet+OMIM,OMIM:605019,Subtype of disorder,Disease subtype,"Hypobetalipoproteinemia, familial, 2","Hypolipidemia, familial, combined" +GARD:0015377,Orphanet+OMIM,OMIM:605244,Subtype of disorder,Disease subtype,"Carney complex, type 2", +GARD:0015378,Orphanet+OMIM,OMIM:605289,Subtype of disorder,Malformation syndrome subtype,Split-hand/foot malformation 4, +GARD:0015379,Orphanet+OMIM,OMIM:605293,Subtype of disorder,Disease subtype,Optic atrophy 4, +GARD:0015380,Orphanet+OMIM,OMIM:605375,Subtype of disorder,Disease subtype,"Epilepsy, nocturnal frontal lobe, 3", +GARD:0015381,Orphanet+OMIM,OMIM:605549,Subtype of disorder,Disease subtype,Cone-rod dystrophy 8, +GARD:0015382,Orphanet+OMIM,OMIM:605582,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1k", +GARD:0015383,Orphanet+OMIM,OMIM:605594,Subtype of disorder,Clinical subtype,"Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1",dfna39/dgi1 syndrome|Dfna39/dentinogenesis imperfecta 1 syndrome|dgi1/dfna39 syndrome +GARD:0015384,Orphanet+OMIM,OMIM:605672,Subtype of disorder,Disease subtype,Cerebellar ataxia and hypergonadotropic hypogonadism, +GARD:0015385,Orphanet+OMIM,OMIM:605738,Subtype of disorder,Malformation syndrome subtype,"Microphthalmia, isolated, with coloboma 2", +GARD:0015386,Orphanet+OMIM,OMIM:605750,Subtype of disorder,Disease subtype,Exudative vitreoretinopathy 3, +GARD:0015387,Orphanet+OMIM,OMIM:605809,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 4a, slow-channel","Congenital myasthenic syndrome type ia1, formerly|cms ia1, formerly" +GARD:0015388,Orphanet+OMIM,OMIM:605841,Subtype of disorder,Disease subtype,"Narcolepsy 2, susceptibility to", +GARD:0015389,Orphanet+OMIM,OMIM:606002,Subtype of disorder,Disease subtype,"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2","ataxia-ocular apraxia 2|Ataxia-oculomotor apraxia 2|spinocerebellar ataxia, autosomal recessive 1, formerly" +GARD:0015390,Orphanet+OMIM,OMIM:606164,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 15 with mandibulofacial dysostosis, +GARD:0015391,Orphanet+OMIM,OMIM:606240,Subtype of disorder,Disease subtype,"Thyroid cancer, nonmedullary, 3", +GARD:0015392,Orphanet+OMIM,OMIM:606391,Subtype of disorder,Disease subtype,Maturity-onset diabetes of the young,Mason-type diabetes +GARD:0015393,Orphanet+OMIM,OMIM:606545,Subtype of disorder,Disease subtype,"Ichthyosis, congenital, autosomal recessive 3","Collodion baby, self-healing|ichthyosis, lamellar, 5, formerly" +GARD:0015394,Orphanet+OMIM,OMIM:606660,Subtype of disorder,Disease subtype,"Melanoma, uveal, susceptibility to, 1", +GARD:0015395,Orphanet+OMIM,OMIM:606661,Subtype of disorder,Disease subtype,"Melanoma, uveal, susceptibility to, 2", +GARD:0015396,Orphanet+OMIM,OMIM:606662,Subtype of disorder,Clinical subtype,"Waardenburg syndrome, type 2c", +GARD:0015397,Orphanet+OMIM,OMIM:606685,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1l", +GARD:0015398,Orphanet+OMIM,OMIM:606708,Subtype of disorder,Malformation syndrome subtype,Split-hand/foot malformation 5, +GARD:0015399,Orphanet+OMIM,OMIM:606744,Subtype of disorder,Malformation syndrome subtype,Seckel syndrome 2,microcephalic primordial dwarfism 2|Seckel-type dwarfism 2 +GARD:0015400,Orphanet+OMIM,OMIM:606763,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 2","Ciliary dyskinesia, primary, 2, with or without situs inversus" +GARD:0015401,Orphanet+OMIM,OMIM:606856,Subtype of disorder,Disease subtype,"Pancreatic cancer, susceptibility to, 1",Pnca1 +GARD:0015402,Orphanet+OMIM,OMIM:606874,Subtype of disorder,Disease subtype,"Hirschsprung disease, susceptibility to, 6", +GARD:0015403,Orphanet+OMIM,OMIM:606875,Subtype of disorder,Disease subtype,"Hirschsprung disease, susceptibility to, 7", +GARD:0015404,Orphanet+OMIM,OMIM:606943,Subtype of disorder,Clinical subtype,"Usher syndrome, type ig", +GARD:0015405,Orphanet+OMIM,OMIM:606995,Subtype of disorder,Disease subtype,Senior-loken syndrome 3, +GARD:0015406,Orphanet+OMIM,OMIM:606996,Subtype of disorder,Disease subtype,Senior-loken syndrome 4, +GARD:0015407,Orphanet+OMIM,OMIM:607004,Subtype of disorder,Malformation syndrome subtype,"Brachydactyly, type a1, b", +GARD:0015408,Orphanet+OMIM,OMIM:607086,Subtype of disorder,Disease subtype,"Aortic aneurysm, familial thoracic 1", +GARD:0015409,Orphanet+OMIM,OMIM:607087,Subtype of disorder,Disease subtype,"Aortic aneurysm, familial thoracic 2", +GARD:0015410,Orphanet+OMIM,OMIM:607151,Subtype of disorder,Disease subtype,Moyamoya disease 2, +GARD:0015411,Orphanet+OMIM,OMIM:607326,Subtype of disorder,Disease subtype,Smith-mccort dysplasia 1,Smc +GARD:0015412,Orphanet+OMIM,OMIM:607398,Subtype of disorder,Disease subtype,Glucocorticoid deficiency 2,Familial glucocorticoid deficiency 2 +GARD:0015413,Orphanet+OMIM,OMIM:607482,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1m", +GARD:0015414,Orphanet+OMIM,OMIM:607554,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 3", +GARD:0015415,Orphanet+OMIM,OMIM:607572,Subtype of disorder,Disease subtype,"Leprosy, susceptibility to, 2", +GARD:0015416,Orphanet+OMIM,OMIM:607596,Subtype of disorder,Malformation syndrome subtype,"Pontocerebellar hypoplasia, type 1a",pontocerebellar hypoplasia with anterior horn cell disease|pontocerebellar hypoplasia with infantile spinal muscular atrophy|Pch1 +GARD:0015417,Orphanet+OMIM,OMIM:607602,Subtype of disorder,Disease subtype,"Ichthyosis, cyclic, with epidermolytic hyperkeratosis","Ciehk|epidermolytic ichthyosis, annular" +GARD:0015418,Orphanet+OMIM,OMIM:607644,Subtype of disorder,Disease subtype,"Candidiasis, familial, 3", +GARD:0015420,Orphanet+OMIM,OMIM:607823,Subtype of disorder,Disease subtype,Hypotrichosis-lymphedema-telangiectasia syndrome, +GARD:0015421,Orphanet+OMIM,OMIM:607829,Subtype of disorder,Morphological anomaly subtype,Mitral valve prolapse 2,"myxomatous mitral valve prolapse 2|Mitral valve prolapse, myxomatous 2" +GARD:0015422,Orphanet+OMIM,OMIM:607832,Subtype of disorder,Disease subtype,"Focal segmental glomerulosclerosis 3, susceptibility to","Glomerulosclerosis, focal segmental, 3, susceptibility to" +GARD:0015423,Orphanet+OMIM,OMIM:607903,Subtype of disorder,Disease subtype,Hypotrichosis 6,"monilethrix-like hypotrichosis|Hypotrichosis, localized, autosomal recessive 1|htl|hypotrichosis, localized, autosomal recessive" +GARD:0015424,Orphanet+OMIM,OMIM:608097,Subtype of disorder,Clinical subtype,"Periventricular heterotopia with microcephaly, autosomal recessive","Periventricular nodular heterotopia 2|heterotopia, periventricular, autosomal recessive" +GARD:0015425,Orphanet+OMIM,OMIM:608098,Subtype of disorder,Clinical subtype,Periventricular nodular heterotopia 3, +GARD:0015426,Orphanet+OMIM,OMIM:608194,Subtype of disorder,Disease subtype,Cone-rod dystrophy 13, +GARD:0015427,Orphanet+OMIM,OMIM:608217,Subtype of disorder,Disease subtype,"Seizures, benign familial neonatal, 3","Convulsions, benign familial neonatal, 3" +GARD:0015428,Orphanet+OMIM,OMIM:608328,Subtype of disorder,Malformation syndrome subtype,Weill-marchesani syndrome 2,"glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|mesodermal dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome|Weill-marchesani syndrome, autosomal dominant" +GARD:0015429,Orphanet+OMIM,OMIM:608358,Subtype of disorder,Disease subtype,"Myopathy, myosin storage, autosomal dominant","Myopathy, hyaline body, autosomal dominant|myopathy with lysis of type i myofibrils" +GARD:0015430,Orphanet+OMIM,OMIM:608389,Subtype of disorder,Malformation syndrome subtype,Branchiootic syndrome 3,Bo syndrome 3 +GARD:0015431,Orphanet+OMIM,OMIM:608393,Subtype of disorder,Etiological subtype,"Microcephaly 6, primary, autosomal recessive", +GARD:0015432,Orphanet+OMIM,OMIM:608462,Subtype of disorder,Disease subtype,"Hirschsprung disease, susceptibility to, 8", +GARD:0015434,Orphanet+OMIM,OMIM:608569,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1o","Cardiomyopathy, dilated, with ventricular tachycardia" +GARD:0015435,Orphanet+OMIM,OMIM:608629,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 3, +GARD:0015436,Orphanet+OMIM,OMIM:608644,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 3","Ciliary dyskinesia, primary, 3, with or without situs inversus" +GARD:0015437,Orphanet+OMIM,OMIM:608646,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 4", +GARD:0015438,Orphanet+OMIM,OMIM:608647,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 5","Ciliary dyskinesia, primary, 5, without situs inversus" +GARD:0015439,Orphanet+OMIM,OMIM:608656,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 3", +GARD:0015440,Orphanet+OMIM,OMIM:608658,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 4", +GARD:0015441,Orphanet+OMIM,OMIM:608716,Subtype of disorder,Etiological subtype,"Microcephaly 5, primary, autosomal recessive", +GARD:0015442,Orphanet+OMIM,OMIM:608796,Subtype of disorder,Disease subtype,Moyamoya disease 3, +GARD:0015443,Orphanet+OMIM,OMIM:608816,Subtype of disorder,Disease subtype,"Myoclonic epilepsy, juvenile, susceptibility to, 3", +GARD:0015444,Orphanet+OMIM,OMIM:608890,Subtype of disorder,Clinical subtype,"Waardenburg syndrome, type 2d","Waardenburg syndrome, type iid" +GARD:0015445,Orphanet+OMIM,OMIM:608930,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 1b, fast-channel", +GARD:0015446,Orphanet+OMIM,OMIM:608988,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 2", +GARD:0015447,Orphanet+OMIM,OMIM:609039,Subtype of disorder,Disease subtype,Narcolepsy 3, +GARD:0015448,Orphanet+OMIM,OMIM:609053,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group i", +GARD:0015449,Orphanet+OMIM,OMIM:609054,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group j", +GARD:0015450,Orphanet+OMIM,OMIM:609197,Subtype of disorder,Disease subtype,Glucocorticoid deficiency 3, +GARD:0015451,Orphanet+OMIM,OMIM:609254,Subtype of disorder,Disease subtype,Senior-loken syndrome 5, +GARD:0015452,Orphanet+OMIM,OMIM:609273,Subtype of disorder,Disease subtype,Nemaline myopathy 6, +GARD:0015453,Orphanet+OMIM,OMIM:609284,Subtype of disorder,Disease subtype,Nemaline myopathy 1, +GARD:0015454,Orphanet+OMIM,OMIM:609285,Subtype of disorder,Disease subtype,Nemaline myopathy 4, +GARD:0015455,Orphanet+OMIM,OMIM:609299,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 5", +GARD:0015456,Orphanet+OMIM,OMIM:609304,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 3,"Epileptic encephalopathy, early infantile, 3" +GARD:0015457,Orphanet+OMIM,OMIM:609310,Subtype of disorder,Disease subtype,"Colorectal cancer, hereditary nonpolyposis, type 2","coca2|Colon cancer, familial nonpolyposis, type 2" +GARD:0015458,Orphanet+OMIM,OMIM:609345,Subtype of disorder,Malformation syndrome subtype,Cerebrorenodigital syndrome with limb malformations and triradiate acetabula, +GARD:0015459,Orphanet+OMIM,OMIM:609384,Subtype of disorder,Disease subtype,"Fibrosis of extraocular muscles, congenital, 3c", +GARD:0015460,Orphanet+OMIM,OMIM:609470,Subtype of disorder,Disease subtype,Left ventricular noncompaction 2, +GARD:0015461,Orphanet+OMIM,OMIM:609508,Subtype of disorder,Clinical subtype,"Stickler syndrome, type i, nonsyndromic ocular","Stickler syndrome, type i, predominantly ocular|stickler syndrome, atypical" +GARD:0015462,Orphanet+OMIM,OMIM:609558,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 6", +GARD:0015463,Orphanet+OMIM,OMIM:609572,Subtype of disorder,Disease subtype,Photoparoxysmal response 2, +GARD:0015464,Orphanet+OMIM,OMIM:609573,Subtype of disorder,Disease subtype,Photoparoxysmal response 3, +GARD:0015465,Orphanet+OMIM,OMIM:609583,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 4, +GARD:0015466,Orphanet+OMIM,OMIM:609612,Subtype of disorder,Disease subtype,"Fibrosis of extraocular muscles, congenital, with synergistic divergence","Congenital fibrosis syndrome with synergistic divergence|external ophthalmoplegia with synergistic divergence|External ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation, included" +GARD:0015467,Orphanet+OMIM,OMIM:609630,Subtype of disorder,Disease subtype,"Leukemia, chronic lymphocytic, susceptibility to, 1", +GARD:0015469,Orphanet+OMIM,OMIM:609909,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1p", +GARD:0015470,Orphanet+OMIM,OMIM:609915,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1q", +GARD:0015471,Orphanet+OMIM,OMIM:610092,Subtype of disorder,Malformation syndrome subtype,"Microphthalmia, isolated, with coloboma 3","Microphthalmia, colobomatous, isolated 3" +GARD:0015472,Orphanet+OMIM,OMIM:610181,Subtype of disorder,Disease subtype,Aicardi-goutieres syndrome 2, +GARD:0015473,Orphanet+OMIM,OMIM:610185,Subtype of disorder,Disease subtype,"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2",Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2 +GARD:0015474,Orphanet+OMIM,OMIM:610187,Subtype of disorder,Morphological anomaly subtype,Diaphragmatic hernia 3, +GARD:0015475,Orphanet+OMIM,OMIM:610188,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 5, +GARD:0015476,Orphanet+OMIM,OMIM:610189,Subtype of disorder,Disease subtype,Senior-loken syndrome 6, +GARD:0015477,Orphanet+OMIM,OMIM:610283,Subtype of disorder,Disease subtype,Cone-rod dystrophy 10, +GARD:0015478,Orphanet+OMIM,OMIM:610321,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 7", +GARD:0015479,Orphanet+OMIM,OMIM:610329,Subtype of disorder,Disease subtype,Aicardi-goutieres syndrome 3, +GARD:0015480,Orphanet+OMIM,OMIM:610333,Subtype of disorder,Disease subtype,Aicardi-goutieres syndrome 4, +GARD:0015481,Orphanet+OMIM,OMIM:610353,Subtype of disorder,Disease subtype,"Epilepsy, nocturnal frontal lobe, 4","Epilepsy, familial, with nocturnal wandering and ictal fear" +GARD:0015482,Orphanet+OMIM,OMIM:610374,Subtype of disorder,Disease subtype,"Diabetes mellitus, transient neonatal, 2", +GARD:0015483,Orphanet+OMIM,OMIM:610379,Subtype of disorder,Disease subtype,"West nile virus, susceptibility to","Wnv, susceptibility to" +GARD:0015484,Orphanet+OMIM,OMIM:610381,Subtype of disorder,Disease subtype,Cone-rod dystrophy 11, +GARD:0015485,Orphanet+OMIM,OMIM:610427,Subtype of disorder,Disease subtype,"Cone-rod synaptic disorder, congenital nonprogressive","night blindness, congenital stationary, incomplete, autosomal recessive, formerly|Night blindness, congenital stationary, type 2b, formerly" +GARD:0015486,Orphanet+OMIM,OMIM:610430,Subtype of disorder,Disease subtype,"Macroglobulinemia, waldenstrom, susceptibility to, 2", +GARD:0015487,Orphanet+OMIM,OMIM:610444,Subtype of disorder,Disease subtype,"Night blindness, congenital stationary, autosomal dominant 3","Night blindness, congenital stationary, nougaret type" +GARD:0015488,Orphanet+OMIM,OMIM:610445,Subtype of disorder,Disease subtype,"Night blindness, congenital stationary, autosomal dominant 1","Night blindness, congenital stationary, rhodopsin-related" +GARD:0015489,Orphanet+OMIM,OMIM:610475,Subtype of disorder,Disease subtype,"Pigmented nodular adrenocortical disease, primary, 2","cushing syndrome, adrenal, due to ppnad2|Pigmented micronodular adrenocortical disease, primary, 2" +GARD:0015490,Orphanet+OMIM,OMIM:610582,Subtype of disorder,Disease subtype,"Diabetes mellitus, transient neonatal, 3",Tndm3 +GARD:0015492,Orphanet+OMIM,OMIM:610685,Subtype of disorder,Malformation syndrome subtype,Split-hand/foot malformation with long bone deficiency 2, +GARD:0015493,Orphanet+OMIM,OMIM:610687,Subtype of disorder,Disease subtype,Nemaline myopathy 7, +GARD:0015494,Orphanet+OMIM,OMIM:610688,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 6, +GARD:0015495,Orphanet+OMIM,OMIM:610725,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 3","Nephrotic syndrome, early-onset, type 3" +GARD:0015496,Orphanet+OMIM,OMIM:610753,Subtype of disorder,Disease subtype,Alopecia areata 2, +GARD:0015497,Orphanet+OMIM,OMIM:610756,Subtype of disorder,Clinical subtype,Cerebrooculofacioskeletal syndrome 2, +GARD:0015498,Orphanet+OMIM,OMIM:610758,Subtype of disorder,Clinical subtype,Cerebrooculofacioskeletal syndrome 4, +GARD:0015499,Orphanet+OMIM,OMIM:610759,Subtype of disorder,Malformation syndrome subtype,Cornelia de lange syndrome 3 with or without midline brain defects, +GARD:0015500,Orphanet+OMIM,OMIM:610832,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group n", +GARD:0015501,Orphanet+OMIM,OMIM:610840,Subtype of disorder,Morphological anomaly subtype,Mitral valve prolapse 3,"Mitral valve prolapse, myxomatous 3|myxomatous mitral valve prolapse 3" +GARD:0015502,Orphanet+OMIM,OMIM:610852,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 6", +GARD:0015503,Orphanet+OMIM,OMIM:610896,Subtype of disorder,Malformation syndrome subtype,Branchiootorenal syndrome 2, +GARD:0015504,Orphanet+OMIM,OMIM:610988,Subtype of disorder,Disease subtype,"Leprosy, susceptibility to, 4", +GARD:0015505,Orphanet+OMIM,OMIM:610997,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 9", +GARD:0015506,Orphanet+OMIM,OMIM:611031,Subtype of disorder,Disease subtype,Episodic kinesigenic dyskinesia 2, +GARD:0015507,Orphanet+OMIM,OMIM:611100,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 10", +GARD:0015508,Orphanet+OMIM,OMIM:611131,Subtype of disorder,Disease subtype,Retinitis pigmentosa 37, +GARD:0015509,Orphanet+OMIM,OMIM:611134,Subtype of disorder,Malformation syndrome subtype,"Meckel syndrome, type 4","Meckel-gruber syndrome, type 4" +GARD:0015510,Orphanet+OMIM,OMIM:611147,Subtype of disorder,Disease subtype,Paroxysmal nonkinesigenic dyskinesia 2, +GARD:0015511,Orphanet+OMIM,OMIM:611263,Subtype of disorder,Malformation syndrome subtype,Short-rib thoracic dysplasia 2 with or without polydactyly,Asphyxiating thoracic dystrophy 2 +GARD:0015512,Orphanet+OMIM,OMIM:611363,Subtype of disorder,Clinical subtype,Atrial septal defect 4, +GARD:0015513,Orphanet+OMIM,OMIM:611364,Subtype of disorder,Disease subtype,"Myoclonic epilepsy, juvenile, susceptibility to, 4", +GARD:0015514,Orphanet+OMIM,OMIM:611383,Subtype of disorder,Clinical subtype,"Usher syndrome, type iid", +GARD:0015515,Orphanet+OMIM,OMIM:611407,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1w", +GARD:0015516,Orphanet+OMIM,OMIM:611493,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 4", +GARD:0015517,Orphanet+OMIM,OMIM:611494,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 5", +GARD:0015518,Orphanet+OMIM,OMIM:611554,Subtype of disorder,Malformation syndrome subtype,Leopard syndrome 2, +GARD:0015519,Orphanet+OMIM,OMIM:611560,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 7, +GARD:0015520,Orphanet+OMIM,OMIM:611561,Subtype of disorder,Malformation syndrome subtype,"Meckel syndrome, type 5", +GARD:0015521,Orphanet+OMIM,OMIM:611584,Subtype of disorder,Clinical subtype,"Waardenburg syndrome, type 2e","waardenburg syndrome, type 2e, with or without neurologic involvement|Hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|waardenburg syndrome, type iie|ws2e, with or without neurologic involvement" +GARD:0015522,Orphanet+OMIM,OMIM:611615,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1x","Cardiomyopathy, dilated, with mild or no proximal muscle weakness" +GARD:0015523,Orphanet+OMIM,OMIM:611631,Subtype of disorder,Disease subtype,"Epilepsy, familial temporal lobe, 4", +GARD:0015524,Orphanet+OMIM,OMIM:611638,Subtype of disorder,Malformation syndrome subtype,"Microphthalmia, isolated, with coloboma 5", +GARD:0015525,Orphanet+OMIM,OMIM:611644,Subtype of disorder,Disease subtype,"Hirschsprung disease, susceptibility to, 9", +GARD:0015526,Orphanet+OMIM,OMIM:611777,Subtype of disorder,Disease subtype,Brugada syndrome 2, +GARD:0015527,Orphanet+OMIM,OMIM:611788,Subtype of disorder,Disease subtype,"Aortic aneurysm, familial thoracic 6",Familial thoracic aortic aneurysm with livedo reticularis and iris flocculi +GARD:0015528,Orphanet+OMIM,OMIM:611804,Subtype of disorder,Disease subtype,Elliptocytosis 1,"4.1-minus trait|Elliptocytosis, rhesus-linked type|4.1- trait|protein 4.1 of erythrocyte membrane, defect of" +GARD:0015529,Orphanet+OMIM,OMIM:611868,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 12", +GARD:0015530,Orphanet+OMIM,OMIM:611878,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1y", +GARD:0015531,Orphanet+OMIM,OMIM:611879,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1z", +GARD:0015532,Orphanet+OMIM,OMIM:611880,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 2a","cardiomyopathy, congestive, autosomal recessive|Cardiomyopathy, dilated, autosomal recessive" +GARD:0015533,Orphanet+OMIM,OMIM:611884,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 7","Ciliary dyskinesia, primary, 7, with or without situs inversus" +GARD:0015534,Orphanet+OMIM,OMIM:611928,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 13", +GARD:0015535,Orphanet+OMIM,OMIM:611938,Subtype of disorder,Disease subtype,"Ventricular tachycardia, catecholaminergic polymorphic, 2","Ventricular tachycardia, stress-induced polymorphic" +GARD:0015536,Orphanet+OMIM,OMIM:611955,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 11", +GARD:0015537,Orphanet+OMIM,OMIM:611958,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 14", +GARD:0015538,Orphanet+OMIM,OMIM:611959,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 15", +GARD:0015539,Orphanet+OMIM,OMIM:612016,Subtype of disorder,Disease subtype,"Coenzyme q10 deficiency, primary, 4","Spinocerebellar ataxia, autosomal recessive 9" +GARD:0015540,Orphanet+OMIM,OMIM:612069,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia, +GARD:0015541,Orphanet+OMIM,OMIM:612076,Subtype of disorder,Malformation syndrome subtype,"Hypouricemia, renal, 2", +GARD:0015542,Orphanet+OMIM,OMIM:612132,Subtype of disorder,Disease subtype,Ectodermal dysplasia and immunodeficiency 2,"ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant|ectodermal dysplasia, hypohidrotic, with immunodeficiency 2|Ectodermal dysplasia, anhidrotic, with immunodeficiency 2" +GARD:0015543,Orphanet+OMIM,OMIM:612158,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction", +GARD:0015544,Orphanet+OMIM,OMIM:612201,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 6", +GARD:0015545,Orphanet+OMIM,OMIM:612240,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 7", +GARD:0015546,Orphanet+OMIM,OMIM:612274,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 8", +GARD:0015547,Orphanet+OMIM,OMIM:612281,Subtype of disorder,Disease subtype,"Ichthyosis, congenital, autosomal recessive 6","Ichthyosis, congenital, autosomal recessive, nipal4-related" +GARD:0015548,Orphanet+OMIM,OMIM:612284,Subtype of disorder,Malformation syndrome subtype,"Meckel syndrome, type 6", +GARD:0015549,Orphanet+OMIM,OMIM:612285,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 9, +GARD:0015550,Orphanet+OMIM,OMIM:612291,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 8, +GARD:0015551,Orphanet+OMIM,OMIM:612293,Subtype of disorder,Disease subtype,"Porokeratosis 5, disseminated superficial actinic type", +GARD:0015552,Orphanet+OMIM,OMIM:612353,Subtype of disorder,Disease subtype,"Porokeratosis 6, multiple types", +GARD:0015553,Orphanet+OMIM,OMIM:612389,Subtype of disorder,Malformation syndrome subtype,"Pontocerebellar hypoplasia, type 2b", +GARD:0015554,Orphanet+OMIM,OMIM:612390,Subtype of disorder,Malformation syndrome subtype,"Pontocerebellar hypoplasia, type 2c", +GARD:0015555,Orphanet+OMIM,OMIM:612417,Subtype of disorder,Disease subtype,"Narcolepsy 4, susceptibility to", +GARD:0015556,Orphanet+OMIM,OMIM:612437,Subtype of disorder,Malformation syndrome subtype,"Epilepsy, progressive myoclonic, 1b", +GARD:0015557,Orphanet+OMIM,OMIM:612438,Subtype of disorder,Disease subtype,"Leukodystrophy, hypomyelinating, 6","Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum" +GARD:0015558,Orphanet+OMIM,OMIM:612444,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 9","Ciliary dyskinesia, primary, 9, with or without situs inversus" +GARD:0015559,Orphanet+OMIM,OMIM:612469,Subtype of disorder,Malformation syndrome subtype,"Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome", +GARD:0015560,Orphanet+OMIM,OMIM:612518,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 10","Ciliary dyskinesia, primary, 10, with or without situs inversus" +GARD:0015561,Orphanet+OMIM,OMIM:612527,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 4, +GARD:0015562,Orphanet+OMIM,OMIM:612528,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 5, +GARD:0015563,Orphanet+OMIM,OMIM:612529,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, hypomaturation type, iia2","Amelogenesis imperfecta, pigmented hypomaturation type, 2" +GARD:0015564,Orphanet+OMIM,OMIM:612551,Subtype of disorder,Disease subtype,"Focal segmental glomerulosclerosis 4, susceptibility to","End-stage renal disease, nondiabetic, susceptibility to, included" +GARD:0015565,Orphanet+OMIM,OMIM:612557,Subtype of disorder,Disease subtype,"Leukemia, chronic lymphocytic, susceptibility to, 3", +GARD:0015566,Orphanet+OMIM,OMIM:612558,Subtype of disorder,Disease subtype,"Leukemia, chronic lymphocytic, susceptibility to, 4", +GARD:0015567,Orphanet+OMIM,OMIM:612559,Subtype of disorder,Disease subtype,"Leukemia, chronic lymphocytic, susceptibility to, 5", +GARD:0015568,Orphanet+OMIM,OMIM:612561,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 6,Aase-smith syndrome ii +GARD:0015569,Orphanet+OMIM,OMIM:612562,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 7, +GARD:0015570,Orphanet+OMIM,OMIM:612563,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 8, +GARD:0015571,Orphanet+OMIM,OMIM:612572,Subtype of disorder,Disease subtype,Retinitis pigmentosa 46,"Retinitis pigmentosa, autosomal recessive, idh3b-related" +GARD:0015572,Orphanet+OMIM,OMIM:612576,Subtype of disorder,Malformation syndrome subtype,"Chromosome 17p13.3, telomeric, duplication syndrome", +GARD:0015573,Orphanet+OMIM,OMIM:612632,Subtype of disorder,Clinical subtype,"Usher syndrome, type ih", +GARD:0015574,Orphanet+OMIM,OMIM:612649,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 11","Ciliary dyskinesia, primary, 11, without situs inversus" +GARD:0015575,Orphanet+OMIM,OMIM:612650,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 12","Ciliary dyskinesia, primary, 12, without situs inversus" +GARD:0015576,Orphanet+OMIM,OMIM:612653,Subtype of disorder,Disease subtype,"Spherocytosis, type 4","Spherocytosis, hereditary, 4" +GARD:0015577,Orphanet+OMIM,OMIM:612657,Subtype of disorder,Disease subtype,Cone-rod dystrophy 12, +GARD:0015578,Orphanet+OMIM,OMIM:612690,Subtype of disorder,Disease subtype,"Spherocytosis, type 5","Spherocytosis, hereditary, 5" +GARD:0015579,Orphanet+OMIM,OMIM:612692,Subtype of disorder,Clinical subtype,"Agammaglobulinemia 6, autosomal recessive","Agammaglobulinemia, autosomal recessive, due to cd79b defect" +GARD:0015580,Orphanet+OMIM,OMIM:612703,Subtype of disorder,Etiological subtype,"Microcephaly 7, primary, autosomal recessive", +GARD:0015581,Orphanet+OMIM,OMIM:612715,Subtype of disorder,Disease subtype,Dyschromatosis universalis hereditaria 2, +GARD:0015582,Orphanet+OMIM,OMIM:612775,Subtype of disorder,Disease subtype,Cone-rod dystrophy 9, +GARD:0015583,Orphanet+OMIM,OMIM:612798,Subtype of disorder,Malformation syndrome subtype,"Question mark ears, isolated","auricular cleft, congenital|Ears, prominent and constricted|cosman deformity of the auricle" +GARD:0015584,Orphanet+OMIM,OMIM:612838,Subtype of disorder,Disease subtype,Brugada syndrome 5, +GARD:0015585,Orphanet+OMIM,OMIM:612841,Subtype of disorder,Disease subtype,Hypotrichosis 5,Marie unna hereditary hypotrichosis 2 +GARD:0015586,Orphanet+OMIM,OMIM:612843,Subtype of disorder,Disease subtype,"Keratosis follicularis spinulosa decalvans, autosomal dominant", +GARD:0015587,Orphanet+OMIM,OMIM:612851,Subtype of disorder,Disease subtype,"Narcolepsy 5, susceptibility to", +GARD:0015588,Orphanet+OMIM,OMIM:612877,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1bb", +GARD:0015589,Orphanet+OMIM,OMIM:612881,Subtype of disorder,Clinical subtype,"Chromosome 5q14.3 deletion syndrome, distal", +GARD:0015590,Orphanet+OMIM,OMIM:612908,Subtype of disorder,Disease subtype,Keratosis palmoplantaris striata ii,"striate palmoplantar keratoderma ii|Keratoderma, palmoplantar, striate form ii" +GARD:0015591,Orphanet+OMIM,OMIM:612921,Subtype of disorder,Malformation syndrome subtype,Three m syndrome 2,3m syndrome 2 +GARD:0015592,Orphanet+OMIM,OMIM:612936,Subtype of disorder,Disease subtype,"Spastic paraplegia 50, autosomal recessive","Cerebral palsy, spastic quadriplegic, 3, formerly" +GARD:0015593,Orphanet+OMIM,OMIM:612943,Subtype of disorder,Disease subtype,Retinitis pigmentosa 42, +GARD:0015595,Orphanet+OMIM,OMIM:612955,Subtype of disorder,Disease subtype,Long qt syndrome 12, +GARD:0015596,Orphanet+OMIM,OMIM:612956,Subtype of disorder,Disease subtype,"Ventricular fibrillation, paroxysmal familial, 2", +GARD:0015597,Orphanet+OMIM,OMIM:612961,Subtype of disorder,Malformation syndrome subtype,Multiple synostoses syndrome 3, +GARD:0015598,Orphanet+OMIM,OMIM:612965,Subtype of disorder,Malformation syndrome subtype,"46,xy sex reversal 3","disorder of sex development, 46,xy, nr5a1-related|46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure|sex reversal, xy, with or without adrenal failure|46,xy sex reversal, partial or complete, nr5a1-related" +GARD:0015599,Orphanet+OMIM,OMIM:612968,Subtype of disorder,Morphological anomaly subtype,"Cataract 34, multiple types","Cataract 34, multiple types, with or without microcornea|cataract, autosomal recessive congenital 3" +GARD:0015600,Orphanet+OMIM,OMIM:613002,Subtype of disorder,Disease subtype,"Immunodeficiency 83, susceptibility to viral infections", +GARD:0015601,Orphanet+OMIM,OMIM:613007,Subtype of disorder,Disease subtype,"Biliary cirrhosis, primary, 2", +GARD:0015602,Orphanet+OMIM,OMIM:613008,Subtype of disorder,Disease subtype,"Biliary cirrhosis, primary, 3", +GARD:0015603,Orphanet+OMIM,OMIM:613013,Subtype of disorder,Disease subtype,"Neuroblastoma, susceptibility to, 2", +GARD:0015604,Orphanet+OMIM,OMIM:613014,Subtype of disorder,Disease subtype,"Neuroblastoma, susceptibility to, 3", +GARD:0015605,Orphanet+OMIM,OMIM:613015,Subtype of disorder,Disease subtype,"Neuroblastoma, susceptibility to, 4", +GARD:0015606,Orphanet+OMIM,OMIM:613016,Subtype of disorder,Disease subtype,"Neuroblastoma, susceptibility to, 5", +GARD:0015607,Orphanet+OMIM,OMIM:613017,Subtype of disorder,Disease subtype,"Neuroblastoma, susceptibility to, 6", +GARD:0015608,Orphanet+OMIM,OMIM:613024,Subtype of disorder,Disease subtype,"Follicular lymphoma, susceptibility to, 1", +GARD:0015609,Orphanet+OMIM,OMIM:613055,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 8", +GARD:0015610,Orphanet+OMIM,OMIM:613073,Subtype of disorder,Disease subtype,Metaphyseal anadysplasia 2, +GARD:0015611,Orphanet+OMIM,OMIM:613080,Subtype of disorder,Malformation syndrome subtype,"46,xy sex reversal 5","46,xy gonadal dysgenesis, complete, cbx2-related|46,xy sex reversal, cbx2-related|disorder of sex development, 46,xy, cbx2-related|sex reversal, xy, cbx2-related" +GARD:0015612,Orphanet+OMIM,OMIM:613090,Subtype of disorder,Clinical subtype,"Bartter syndrome, type 4b, neonatal, with sensorineural deafness", +GARD:0015613,Orphanet+OMIM,OMIM:613091,Subtype of disorder,Malformation syndrome subtype,Short-rib thoracic dysplasia 3 with or without polydactyly,"short rib-polydactyly syndrome, type i|saldino-noonan syndrome|polydactyly with neonatal chondrodystrophy, type i|short rib-polydactyly syndrome, type iii|verma-naumoff syndrome|polydactyly with neonatal chondrodystrophy, type iii|short rib-polydactyly syndrome, type iib|Asphyxiating thoracic dystrophy 3" +GARD:0015614,Orphanet+OMIM,OMIM:613101,Subtype of disorder,Disease subtype,"Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease", +GARD:0015615,Orphanet+OMIM,OMIM:613105,Subtype of disorder,Disease subtype,"Choroidal dystrophy, central areolar 2","Macular dystrophy, progressive" +GARD:0015616,Orphanet+OMIM,OMIM:613107,Subtype of disorder,Disease subtype,"Neutropenia, severe congenital, 2, autosomal dominant", +GARD:0015617,Orphanet+OMIM,OMIM:613108,Subtype of disorder,Disease subtype,"Candidiasis, familial, 4","Candidiasis, familial chronic mucocutaneous" +GARD:0015618,Orphanet+OMIM,OMIM:613115,Subtype of disorder,Disease subtype,"Neuropathy, hereditary sensory and autonomic, type iib", +GARD:0015619,Orphanet+OMIM,OMIM:613119,Subtype of disorder,Disease subtype,Brugada syndrome 6, +GARD:0015620,Orphanet+OMIM,OMIM:613120,Subtype of disorder,Disease subtype,Brugada syndrome 7, +GARD:0015621,Orphanet+OMIM,OMIM:613122,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1cc", +GARD:0015622,Orphanet+OMIM,OMIM:613123,Subtype of disorder,Disease subtype,Brugada syndrome 8, +GARD:0015623,Orphanet+OMIM,OMIM:613144,Subtype of disorder,Disease subtype,"Choroidal dystrophy, central areolar, 3","Choroidal dystrophy, central areolar, with or without drusen" +GARD:0015624,Orphanet+OMIM,OMIM:613150,Subtype of disorder,Disease subtype|Malformation syndrome subtype,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2","Walker-warburg syndrome or muscle-eye-brain disease, pomt2-related" +GARD:0015625,Orphanet+OMIM,OMIM:613153,Subtype of disorder,Disease subtype|Malformation syndrome subtype,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5","Walker-warburg syndrome or muscle-eye-brain disease, fkrp-related" +GARD:0015626,Orphanet+OMIM,OMIM:613154,Subtype of disorder,Disease subtype|Malformation syndrome subtype,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6","Walker-warburg syndrome or muscle-eye-brain disease, large-related" +GARD:0015627,Orphanet+OMIM,OMIM:613172,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1dd", +GARD:0015628,Orphanet+OMIM,OMIM:613193,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 13","Ciliary dyskinesia, primary, 13, with or without situs inversus" +GARD:0015629,Orphanet+OMIM,OMIM:613194,Subtype of disorder,Disease subtype,Retinitis pigmentosa 50, +GARD:0015630,Orphanet+OMIM,OMIM:613211,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, hypomaturation type, iia3", +GARD:0015631,Orphanet+OMIM,OMIM:613216,Subtype of disorder,Disease subtype,"Night blindness, congenital stationary, type 1c","Csnb, complete, autosomal recessive" +GARD:0015632,Orphanet+OMIM,OMIM:613223,Subtype of disorder,Disease subtype,"Leprosy, susceptibility to, 5", +GARD:0015633,Orphanet+OMIM,OMIM:613225,Subtype of disorder,Disease subtype,"Factor xiii, a subunit, deficiency of", +GARD:0015634,Orphanet+OMIM,OMIM:613227,Subtype of disorder,Disease subtype,"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3",Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 +GARD:0015635,Orphanet+OMIM,OMIM:613235,Subtype of disorder,Disease subtype,"Factor xiii, b subunit, deficiency of", +GARD:0015636,Orphanet+OMIM,OMIM:613237,Subtype of disorder,Disease subtype,Focal segmental glomerulosclerosis 5,"Glomerulosclerosis, focal segmental, 5" +GARD:0015637,Orphanet+OMIM,OMIM:613239,Subtype of disorder,Disease subtype,"Thyrotoxic periodic paralysis, susceptibility to, 2", +GARD:0015638,Orphanet+OMIM,OMIM:613244,Subtype of disorder,Disease subtype,"Colorectal cancer, hereditary nonpolyposis, type 8", +GARD:0015639,Orphanet+OMIM,OMIM:613252,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1ee", +GARD:0015640,Orphanet+OMIM,OMIM:613254,Subtype of disorder,Disease subtype,Tuberous sclerosis 2, +GARD:0015641,Orphanet+OMIM,OMIM:613265,Subtype of disorder,Disease subtype,"Waardenburg syndrome, type 4b","Waardenburg syndrome, type 4b, with hirschsprung disease|waardenburg syndrome, type ivb" +GARD:0015642,Orphanet+OMIM,OMIM:613266,Subtype of disorder,Disease subtype,"Waardenburg syndrome, type 4c","Waardenburg syndrome with hirschsprung disease, type 4c|waardenburg syndrome, type ivc" +GARD:0015643,Orphanet+OMIM,OMIM:613286,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1ff", +GARD:0015644,Orphanet+OMIM,OMIM:613308,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 9, +GARD:0015645,Orphanet+OMIM,OMIM:613309,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 10, +GARD:0015646,Orphanet+OMIM,OMIM:613310,Subtype of disorder,Disease subtype,Exudative vitreoretinopathy 5, +GARD:0015647,Orphanet+OMIM,OMIM:613313,Subtype of disorder,Disease subtype,"Hemochromatosis, type 2b", +GARD:0015648,Orphanet+OMIM,OMIM:613318,Subtype of disorder,Disease subtype,Miyoshi muscular dystrophy 2, +GARD:0015649,Orphanet+OMIM,OMIM:613345,Subtype of disorder,Disease subtype,"Hypokalemic periodic paralysis, type 2", +GARD:0015650,Orphanet+OMIM,OMIM:613347,Subtype of disorder,Disease subtype,"Pancreatic cancer, susceptibility to, 2",Pnca2 +GARD:0015651,Orphanet+OMIM,OMIM:613348,Subtype of disorder,Disease subtype,"Pancreatic cancer, susceptibility to, 3",Pnca3 +GARD:0015652,Orphanet+OMIM,OMIM:613370,Subtype of disorder,Disease subtype,"Maturity-onset diabetes of the young, type 10", +GARD:0015653,Orphanet+OMIM,OMIM:613375,Subtype of disorder,Disease subtype,"Maturity-onset diabetes of the young, type 11", +GARD:0015654,Orphanet+OMIM,OMIM:613382,Subtype of disorder,Malformation syndrome subtype,"Brachydactyly, type e2", +GARD:0015655,Orphanet+OMIM,OMIM:613388,Subtype of disorder,Disease subtype,Fanconi renotubular syndrome 2, +GARD:0015656,Orphanet+OMIM,OMIM:613390,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group o", +GARD:0015657,Orphanet+OMIM,OMIM:613399,Subtype of disorder,Disease subtype,"Breast-ovarian cancer, familial, susceptibility to, 3", +GARD:0015658,Orphanet+OMIM,OMIM:613404,Subtype of disorder,Malformation syndrome subtype,"Arthrogryposis, renal dysfunction, and cholestasis 2", +GARD:0015659,Orphanet+OMIM,OMIM:613407,Subtype of disorder,Disease subtype,"Leprosy, susceptibility to, 6", +GARD:0015660,Orphanet+OMIM,OMIM:613411,Subtype of disorder,Malformation syndrome subtype,Oguchi disease 2,"Night blindness, congenital stationary, oguchi type 2" +GARD:0015661,Orphanet+OMIM,OMIM:613424,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1r", +GARD:0015662,Orphanet+OMIM,OMIM:613428,Subtype of disorder,Disease subtype,Retinitis pigmentosa 54, +GARD:0015663,Orphanet+OMIM,OMIM:613435,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia, +GARD:0015664,Orphanet+OMIM,OMIM:613454,Subtype of disorder,Disease subtype,"Rett syndrome, congenital variant", +GARD:0015665,Orphanet+OMIM,OMIM:613464,Subtype of disorder,Disease subtype,Retinitis pigmentosa 51, +GARD:0015666,Orphanet+OMIM,OMIM:613485,Subtype of disorder,Disease subtype,Long qt syndrome 13, +GARD:0015667,Orphanet+OMIM,OMIM:613488,Subtype of disorder,Histopathological subtype,Myxoid liposarcoma, +GARD:0015668,Orphanet+OMIM,OMIM:613493,Subtype of disorder,Disease subtype,"Immunodeficiency, common variable, 3",Antibody deficiency due to cd19 defect +GARD:0015669,Orphanet+OMIM,OMIM:613494,Subtype of disorder,Disease subtype,"Immunodeficiency, common variable, 4",Antibody deficiency due to baffr defect +GARD:0015670,Orphanet+OMIM,OMIM:613495,Subtype of disorder,Disease subtype,"Immunodeficiency, common variable, 5",Antibody deficiency due to cd20 defect +GARD:0015671,Orphanet+OMIM,OMIM:613496,Subtype of disorder,Disease subtype,"Immunodeficiency, common variable, 6",Antibody deficiency due to cd81 defect +GARD:0015672,Orphanet+OMIM,OMIM:613500,Subtype of disorder,Clinical subtype,"Agammaglobulinemia 2, autosomal recessive","Agammaglobulinemia, autosomal recessive, due to igll1 defect" +GARD:0015673,Orphanet+OMIM,OMIM:613501,Subtype of disorder,Clinical subtype,"Agammaglobulinemia 3, autosomal recessive","Agammaglobulinemia, autosomal recessive, due to cd79a defect" +GARD:0015674,Orphanet+OMIM,OMIM:613502,Subtype of disorder,Clinical subtype,"Agammaglobulinemia 4, autosomal recessive","Agammaglobulinemia, autosomal recessive, due to blnk defect" +GARD:0015675,Orphanet+OMIM,OMIM:613506,Subtype of disorder,Clinical subtype,"Agammaglobulinemia 5, autosomal dominant","Agammaglobulinemia, autosomal dominant, due to lrrc8a defect" +GARD:0015676,Orphanet+OMIM,OMIM:613561,Subtype of disorder,Disease subtype,"Myopathy, lactic acidosis, and sideroblastic anemia 2", +GARD:0015677,Orphanet+OMIM,OMIM:613575,Subtype of disorder,Disease subtype,Retinitis pigmentosa 55, +GARD:0015678,Orphanet+OMIM,OMIM:613581,Subtype of disorder,Disease subtype,Retinitis pigmentosa 56, +GARD:0015679,Orphanet+OMIM,OMIM:613582,Subtype of disorder,Disease subtype,Retinitis pigmentosa 57, +GARD:0015680,Orphanet+OMIM,OMIM:613610,Subtype of disorder,Malformation syndrome subtype,Cranioectodermal dysplasia 2, +GARD:0015681,Orphanet+OMIM,OMIM:613615,Subtype of disorder,Disease subtype,Senior-loken syndrome 7, +GARD:0015682,Orphanet+OMIM,OMIM:613617,Subtype of disorder,Disease subtype,Retinitis pigmentosa 58, +GARD:0015683,Orphanet+OMIM,OMIM:613640,Subtype of disorder,Disease subtype,"Neuropathy, hereditary sensory and autonomic, type ic","Hsan ic|hsn ic|neuropathy, hereditary sensory, type ic" +GARD:0015684,Orphanet+OMIM,OMIM:613642,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1gg", +GARD:0015685,Orphanet+OMIM,OMIM:613657,Subtype of disorder,Disease subtype,D-2-hydroxyglutaric aciduria 2, +GARD:0015686,Orphanet+OMIM,OMIM:613660,Subtype of disorder,Disease subtype,Cone-rod dystrophy 15, +GARD:0015687,Orphanet+OMIM,OMIM:613676,Subtype of disorder,Malformation syndrome subtype,Seckel syndrome 4, +GARD:0015688,Orphanet+OMIM,OMIM:613681,Subtype of disorder,Malformation syndrome subtype,Chromosome 2q31.1 duplication syndrome, +GARD:0015689,Orphanet+OMIM,OMIM:613694,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1u", +GARD:0015690,Orphanet+OMIM,OMIM:613697,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1v", +GARD:0015691,Orphanet+OMIM,OMIM:613702,Subtype of disorder,Malformation syndrome subtype,"Klippel-feil syndrome 3, autosomal dominant", +GARD:0015692,Orphanet+OMIM,OMIM:613703,Subtype of disorder,Malformation syndrome subtype,"Microphthalmia, isolated, with coloboma 6", +GARD:0015693,Orphanet+OMIM,OMIM:613706,Subtype of disorder,Malformation syndrome subtype,Noonan syndrome 7, +GARD:0015694,Orphanet+OMIM,OMIM:613707,Subtype of disorder,Malformation syndrome subtype,Leopard syndrome 3, +GARD:0015695,Orphanet+OMIM,OMIM:613708,Subtype of disorder,Disease subtype,"Neuropathy, hereditary sensory, type id", +GARD:0015696,Orphanet+OMIM,OMIM:613711,Subtype of disorder,Disease subtype,"Hirschsprung disease, susceptibility to, 3", +GARD:0015697,Orphanet+OMIM,OMIM:613712,Subtype of disorder,Disease subtype,"Hirschsprung disease, susceptibility to, 4", +GARD:0015698,Orphanet+OMIM,OMIM:613717,Subtype of disorder,Malformation syndrome subtype,Treacher collins syndrome 2, +GARD:0015699,Orphanet+OMIM,OMIM:613721,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 11,"Epileptic encephalopathy, early infantile, 11" +GARD:0015700,Orphanet+OMIM,OMIM:613750,Subtype of disorder,Disease subtype,Retinitis pigmentosa 27, +GARD:0015701,Orphanet+OMIM,OMIM:613756,Subtype of disorder,Disease subtype,Retinitis pigmentosa 49, +GARD:0015702,Orphanet+OMIM,OMIM:613758,Subtype of disorder,Disease subtype,Retinitis pigmentosa 47, +GARD:0015703,Orphanet+OMIM,OMIM:613762,Subtype of disorder,Malformation syndrome subtype,"46,xy sex reversal 6","46,xy sex reversal, partial or complete, map3k1-related|46,xy gonadal dysgenesis, partial or complete, map3k1-related" +GARD:0015704,Orphanet+OMIM,OMIM:613767,Subtype of disorder,Disease subtype,Retinitis pigmentosa 45, +GARD:0015705,Orphanet+OMIM,OMIM:613769,Subtype of disorder,Disease subtype,Retinitis pigmentosa 44, +GARD:0015706,Orphanet+OMIM,OMIM:613780,Subtype of disorder,Disease subtype,"Aortic aneurysm, familial thoracic 7","Aortic dissection, familial, with or without aortic aneurysm" +GARD:0015707,Orphanet+OMIM,OMIM:613783,Subtype of disorder,Disease subtype,Complement component c1s deficiency,C1s deficiency +GARD:0015708,Orphanet+OMIM,OMIM:613800,Subtype of disorder,Malformation syndrome subtype,Meier-gorlin syndrome 2, +GARD:0015709,Orphanet+OMIM,OMIM:613801,Subtype of disorder,Disease subtype,Retinitis pigmentosa 40, +GARD:0015710,Orphanet+OMIM,OMIM:613803,Subtype of disorder,Malformation syndrome subtype,Meier-gorlin syndrome 3, +GARD:0015711,Orphanet+OMIM,OMIM:613804,Subtype of disorder,Malformation syndrome subtype,Meier-gorlin syndrome 4, +GARD:0015712,Orphanet+OMIM,OMIM:613805,Subtype of disorder,Malformation syndrome subtype,Meier-gorlin syndrome 5, +GARD:0015713,Orphanet+OMIM,OMIM:613807,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 14","Ciliary dyskinesia, primary, 14, with or without situs inversus" +GARD:0015714,Orphanet+OMIM,OMIM:613808,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 15","Ciliary dyskinesia, primary, 15, with or without situs inversus" +GARD:0015715,Orphanet+OMIM,OMIM:613809,Subtype of disorder,Disease subtype,Retinitis pigmentosa 39, +GARD:0015716,Orphanet+OMIM,OMIM:613810,Subtype of disorder,Disease subtype,Retinitis pigmentosa 43, +GARD:0015717,Orphanet+OMIM,OMIM:613811,Subtype of disorder,Malformation syndrome subtype,"Pontocerebellar hypoplasia, type 2d","Cerebellocerebral atrophy, progressive" +GARD:0015718,Orphanet+OMIM,OMIM:613819,Subtype of disorder,Malformation syndrome subtype,Short-rib thoracic dysplasia 4 with or without polydactyly,Asphyxiating thoracic dystrophy 4 +GARD:0015719,Orphanet+OMIM,OMIM:613823,Subtype of disorder,Malformation syndrome subtype,Seckel syndrome 5, +GARD:0015720,Orphanet+OMIM,OMIM:613827,Subtype of disorder,Disease subtype,Retinitis pigmentosa 48, +GARD:0015721,Orphanet+OMIM,OMIM:613830,Subtype of disorder,Disease subtype,"Night blindness, congenital stationary, type 1d","Csnb, complete, autosomal recessive" +GARD:0015722,Orphanet+OMIM,OMIM:613849,Subtype of disorder,Clinical subtype,"Osteogenesis imperfecta, type xii","Oi, type xii" +GARD:0015723,Orphanet+OMIM,OMIM:613856,Subtype of disorder,Disease subtype,Achromatopsia 4, +GARD:0015724,Orphanet+OMIM,OMIM:613861,Subtype of disorder,Disease subtype,Retinitis pigmentosa 59, +GARD:0015725,Orphanet+OMIM,OMIM:613862,Subtype of disorder,Disease subtype,Retinitis pigmentosa 38,"Rod-cone dystrophy, childhood-onset" +GARD:0015726,Orphanet+OMIM,OMIM:613881,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1hh", +GARD:0015727,Orphanet+OMIM,OMIM:613885,Subtype of disorder,Malformation syndrome subtype,"Meckel syndrome, type 8", +GARD:0015728,Orphanet+OMIM,OMIM:613925,Subtype of disorder,Disease subtype,Megalencephalic leukoencephalopathy with subcortical cysts 2a, +GARD:0015729,Orphanet+OMIM,OMIM:613926,Subtype of disorder,Disease subtype,"Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation", +GARD:0015730,Orphanet+OMIM,OMIM:613930,Subtype of disorder,Disease subtype,Alopecia-intellectual disability syndrome 3, +GARD:0015731,Orphanet+OMIM,OMIM:613951,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group p", +GARD:0015732,Orphanet+OMIM,OMIM:613953,Subtype of disorder,Disease subtype,Immunodeficiency 51,"Candidiasis, familial, 5, formerly" +GARD:0015733,Orphanet+OMIM,OMIM:613954,Subtype of disorder,Disease subtype,Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,"Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, formerly" +GARD:0015734,Orphanet+OMIM,OMIM:613957,Subtype of disorder,Disease subtype,Spermatogenic failure 8, +GARD:0015735,Orphanet+OMIM,OMIM:613958,Subtype of disorder,Clinical subtype,Spermatogenic failure 9,"globozoospermia, total|Globozoospermia, complete" +GARD:0015736,Orphanet+OMIM,OMIM:613960,Subtype of disorder,Disease subtype,"Granulomatous disease, chronic, autosomal recessive, 3","cgd, autosomal recessive cytochrome b-positive, type iii|granulomatous disease, chronic, due to ncf4 deficiency|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii" +GARD:0015737,Orphanet+OMIM,OMIM:613980,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 9", +GARD:0015738,Orphanet+OMIM,OMIM:613983,Subtype of disorder,Disease subtype,Retinitis pigmentosa 60, +GARD:0015739,Orphanet+OMIM,OMIM:613987,Subtype of disorder,Disease subtype,"Dyskeratosis congenita, autosomal recessive 2", +GARD:0015740,Orphanet+OMIM,OMIM:613988,Subtype of disorder,Disease subtype,"Dyskeratosis congenita, autosomal recessive 3", +GARD:0015741,Orphanet+OMIM,OMIM:613989,Subtype of disorder,Disease subtype,"Dyskeratosis congenita, autosomal dominant 2", +GARD:0015742,Orphanet+OMIM,OMIM:613990,Subtype of disorder,Disease subtype,"Dyskeratosis congenita, autosomal dominant 3", +GARD:0015743,Orphanet+OMIM,OMIM:614017,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 16","Ciliary dyskinesia, primary, 16, with or without situs inversus" +GARD:0015744,Orphanet+OMIM,OMIM:614021,Subtype of disorder,Disease subtype,"Ventricular tachycardia, catecholaminergic polymorphic, 3", +GARD:0015745,Orphanet+OMIM,OMIM:614022,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 10", +GARD:0015746,Orphanet+OMIM,OMIM:614042,Subtype of disorder,Disease subtype,Moyamoya disease 5, +GARD:0015747,Orphanet+OMIM,OMIM:614049,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 11", +GARD:0015748,Orphanet+OMIM,OMIM:614050,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 12", +GARD:0015749,Orphanet+OMIM,OMIM:614066,Subtype of disorder,Disease subtype,"Spastic paraplegia 47, autosomal recessive","Cerebral palsy, spastic quadriplegic, 5, formerly" +GARD:0015750,Orphanet+OMIM,OMIM:614067,Subtype of disorder,Disease subtype,"Spastic paraplegia 52, autosomal recessive","Cerebral palsy, spastic quadriplegic, 6, formerly" +GARD:0015751,Orphanet+OMIM,OMIM:614069,Subtype of disorder,Malformation syndrome subtype,Immunodeficiency-centromeric instability-facial anomalies syndrome 2, +GARD:0015752,Orphanet+OMIM,OMIM:614079,Subtype of disorder,Disease subtype,"Aspergillosis, susceptibility to", +GARD:0015753,Orphanet+OMIM,OMIM:614082,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group g", +GARD:0015754,Orphanet+OMIM,OMIM:614083,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group l", +GARD:0015755,Orphanet+OMIM,OMIM:614089,Subtype of disorder,Clinical subtype,Atrial septal defect 3, +GARD:0015756,Orphanet+OMIM,OMIM:614091,Subtype of disorder,Malformation syndrome subtype,Short-rib thoracic dysplasia 7 with or without polydactyly,"Short rib-polydactyly syndrome, type v" +GARD:0015757,Orphanet+OMIM,OMIM:614099,Subtype of disorder,Malformation syndrome subtype,Cranioectodermal dysplasia 3, +GARD:0015758,Orphanet+OMIM,OMIM:614114,Subtype of disorder,Malformation syndrome subtype,Mosaic variegated aneuploidy syndrome 2, +GARD:0015759,Orphanet+OMIM,OMIM:614120,Subtype of disorder,Malformation syndrome subtype,Hydrolethalus syndrome 2, +GARD:0015760,Orphanet+OMIM,OMIM:614129,Subtype of disorder,Disease subtype,Perrault syndrome 3,"Deafness, autosomal recessive 81, formerly" +GARD:0015761,Orphanet+OMIM,OMIM:614131,Subtype of disorder,Disease subtype,Focal segmental glomerulosclerosis 6,"Glomerulosclerosis, focal segmental, 6" +GARD:0015762,Orphanet+OMIM,OMIM:614149,Subtype of disorder,Clinical subtype,"Nail disorder, nonsyndromic congenital, 9", +GARD:0015763,Orphanet+OMIM,OMIM:614165,Subtype of disorder,Disease subtype,Paragangliomas 5, +GARD:0015764,Orphanet+OMIM,OMIM:614170,Subtype of disorder,Disease subtype,Brittle cornea syndrome 2, +GARD:0015765,Orphanet+OMIM,OMIM:614173,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 13, +GARD:0015766,Orphanet+OMIM,OMIM:614180,Subtype of disorder,Disease subtype,Retinitis pigmentosa 61, +GARD:0015767,Orphanet+OMIM,OMIM:614181,Subtype of disorder,Disease subtype,Retinitis pigmentosa 62, +GARD:0015768,Orphanet+OMIM,OMIM:614185,Subtype of disorder,Malformation syndrome subtype,Geleophysic dysplasia 2, +GARD:0015769,Orphanet+OMIM,OMIM:614190,Subtype of disorder,Disease subtype,"Pigmented nodular adrenocortical disease, primary, 3","Cushing syndrome, adrenal, due to ppnad3" +GARD:0015770,Orphanet+OMIM,OMIM:614196,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 6", +GARD:0015771,Orphanet+OMIM,OMIM:614198,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 16","Myasthenic syndrome, congenital, acetazolamide-responsive" +GARD:0015772,Orphanet+OMIM,OMIM:614205,Subtype of disorder,Malformation syndrome subtype,Three m syndrome 3,3m syndrome 3 +GARD:0015773,Orphanet+OMIM,OMIM:614209,Subtype of disorder,Malformation syndrome subtype,"Meckel syndrome, type 9", +GARD:0015774,Orphanet+OMIM,OMIM:614213,Subtype of disorder,Disease subtype,"Neuropathy, hereditary sensory, type iic", +GARD:0015775,Orphanet+OMIM,OMIM:614219,Subtype of disorder,Malformation syndrome subtype,Adams-oliver syndrome 2, +GARD:0015776,Orphanet+OMIM,OMIM:614220,Subtype of disorder,Disease subtype,"Biliary cirrhosis, primary, 4", +GARD:0015777,Orphanet+OMIM,OMIM:614221,Subtype of disorder,Disease subtype,"Biliary cirrhosis, primary, 5", +GARD:0015778,Orphanet+OMIM,OMIM:614222,Subtype of disorder,Malformation syndrome subtype,Warburg micro syndrome 3,Micro syndrome 3 +GARD:0015779,Orphanet+OMIM,OMIM:614223,Subtype of disorder,Disease subtype,"Narcolepsy 6, susceptibility to", +GARD:0015780,Orphanet+OMIM,OMIM:614225,Subtype of disorder,Malformation syndrome subtype,Warburg micro syndrome 2,Micro syndrome 2 +GARD:0015781,Orphanet+OMIM,OMIM:614237,Subtype of disorder,Disease subtype,Hypotrichosis 9, +GARD:0015782,Orphanet+OMIM,OMIM:614238,Subtype of disorder,Disease subtype,Hypotrichosis 10, +GARD:0015783,Orphanet+OMIM,OMIM:614250,Subtype of disorder,Disease subtype,Narcolepsy 7, +GARD:0015784,Orphanet+OMIM,OMIM:614280,Subtype of disorder,Disease subtype,"Epilepsy, juvenile myoclonic, susceptibility to, 9", +GARD:0015785,Orphanet+OMIM,OMIM:614291,Subtype of disorder,Disease subtype,"Breast-ovarian cancer, familial, susceptibility to, 4", +GARD:0015786,Orphanet+OMIM,OMIM:614305,Subtype of disorder,Malformation syndrome subtype,Sclerosteosis 2, +GARD:0015787,Orphanet+OMIM,OMIM:614307,Subtype of disorder,Disease subtype,Alpha-methylacyl-coa racemase deficiency,Amacr deficiency +GARD:0015788,Orphanet+OMIM,OMIM:614320,Subtype of disorder,Disease subtype,"Pancreatic cancer, susceptibility to, 4", +GARD:0015789,Orphanet+OMIM,OMIM:614331,Subtype of disorder,Disease subtype,"Colorectal cancer, hereditary nonpolyposis, type 6","Colon cancer, hereditary nonpolyposis, type 6" +GARD:0015790,Orphanet+OMIM,OMIM:614335,Subtype of disorder,Malformation syndrome subtype,"Arthrogryposis, distal, type 1b", +GARD:0015791,Orphanet+OMIM,OMIM:614337,Subtype of disorder,Disease subtype,"Colorectal cancer, hereditary nonpolyposis, type 4", +GARD:0015792,Orphanet+OMIM,OMIM:614350,Subtype of disorder,Disease subtype,"Colorectal cancer, hereditary nonpolyposis, type 5", +GARD:0015793,Orphanet+OMIM,OMIM:614370,Subtype of disorder,Disease subtype,"Surfactant metabolism dysfunction, pulmonary, 5",pap due to csf2rb deficiency|csf2rb deficiency|Pulmonary alveolar proteinosis 5 +GARD:0015794,Orphanet+OMIM,OMIM:614373,Subtype of disorder,Disease subtype,"Amyotrophic lateral sclerosis 16, juvenile", +GARD:0015795,Orphanet+OMIM,OMIM:614376,Subtype of disorder,Malformation syndrome subtype,Short-rib thoracic dysplasia 5 with or without polydactyly,Asphyxiating thoracic dystrophy 5 +GARD:0015796,Orphanet+OMIM,OMIM:614378,Subtype of disorder,Malformation syndrome subtype,Cranioectodermal dysplasia 4, +GARD:0015797,Orphanet+OMIM,OMIM:614379,Subtype of disorder,Disease subtype,Complement component 4b deficiency,C4b deficiency +GARD:0015798,Orphanet+OMIM,OMIM:614380,Subtype of disorder,Disease subtype,Complement component 4a deficiency,C4a deficiency +GARD:0015799,Orphanet+OMIM,OMIM:614385,Subtype of disorder,Disease subtype,"Colorectal cancer, hereditary nonpolyposis, type 7", +GARD:0015800,Orphanet+OMIM,OMIM:614422,Subtype of disorder,Clinical subtype,Cataract 37, +GARD:0015801,Orphanet+OMIM,OMIM:614424,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 14, +GARD:0015802,Orphanet+OMIM,OMIM:614434,Subtype of disorder,Disease subtype,"Cutis laxa, autosomal dominant 2", +GARD:0015803,Orphanet+OMIM,OMIM:614435,Subtype of disorder,Morphological anomaly subtype,Hypoplastic left heart syndrome 2, +GARD:0015804,Orphanet+OMIM,OMIM:614437,Subtype of disorder,Disease subtype,"Cutis laxa, autosomal recessive, type ib", +GARD:0015805,Orphanet+OMIM,OMIM:614441,Subtype of disorder,Malformation syndrome subtype,"Hypertrophic osteoarthropathy, primary, autosomal recessive, 2","Pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive" +GARD:0015806,Orphanet+OMIM,OMIM:614464,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 15, +GARD:0015807,Orphanet+OMIM,OMIM:614465,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 16, +GARD:0015808,Orphanet+OMIM,OMIM:614483,Subtype of disorder,Etiological subtype,Brain small vessel disease 2,"Porencephaly 2, formerly" +GARD:0015809,Orphanet+OMIM,OMIM:614493,Subtype of disorder,Disease subtype,Wiskott-aldrich syndrome 2,Wipf1 deficiency|wip deficiency +GARD:0015810,Orphanet+OMIM,OMIM:614494,Subtype of disorder,Disease subtype,Retinitis pigmentosa 63, +GARD:0015811,Orphanet+OMIM,OMIM:614497,Subtype of disorder,Malformation syndrome subtype,"Microphthalmia, isolated, with coloboma 7", +GARD:0015812,Orphanet+OMIM,OMIM:614500,Subtype of disorder,Disease subtype,Cone-rod dystrophy 16,Retinal dystrophy with early macular involvement +GARD:0015813,Orphanet+OMIM,OMIM:614504,Subtype of disorder,Clinical subtype,"Usher syndrome, type iiib", +GARD:0015814,Orphanet+OMIM,OMIM:614508,Subtype of disorder,Disease subtype,Mirror movements 2, +GARD:0015815,Orphanet+OMIM,OMIM:614524,Subtype of disorder,Disease subtype,Fibrochondrogenesis 2, +GARD:0015816,Orphanet+OMIM,OMIM:614565,Subtype of disorder,Disease subtype,"Night blindness, congenital stationary, type 1e","Csnb, complete, autosomal recessive" +GARD:0015817,Orphanet+OMIM,OMIM:614583,Subtype of disorder,Malformation syndrome subtype,Baraitser-winter syndrome 2, +GARD:0015818,Orphanet+OMIM,OMIM:614594,Subtype of disorder,Disease subtype,Olmsted syndrome 1,"Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1" +GARD:0015819,Orphanet+OMIM,OMIM:614602,Subtype of disorder,Disease subtype,Trichohepatoenteric syndrome 2, +GARD:0015820,Orphanet+OMIM,OMIM:614607,Subtype of disorder,Malformation syndrome subtype,Coffin-siris syndrome 2,"Mental retardation, autosomal dominant 14" +GARD:0015821,Orphanet+OMIM,OMIM:614608,Subtype of disorder,Malformation syndrome subtype,Coffin-siris syndrome 3,"Mental retardation, autosomal dominant 15" +GARD:0015822,Orphanet+OMIM,OMIM:614609,Subtype of disorder,Malformation syndrome subtype,Coffin-siris syndrome 4,"Mental retardation, autosomal dominant 16" +GARD:0015823,Orphanet+OMIM,OMIM:614613,Subtype of disorder,Disease subtype|Malformation syndrome subtype,Acrodysostosis 2 with or without hormone resistance, +GARD:0015824,Orphanet+OMIM,OMIM:614615,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 17, +GARD:0015825,Orphanet+OMIM,OMIM:614618,Subtype of disorder,Disease subtype,Hyperekplexia 3, +GARD:0015826,Orphanet+OMIM,OMIM:614619,Subtype of disorder,Disease subtype,Hyperekplexia 2, +GARD:0015827,Orphanet+OMIM,OMIM:614621,Subtype of disorder,Disease subtype,Uv-sensitive syndrome 2, +GARD:0015828,Orphanet+OMIM,OMIM:614640,Subtype of disorder,Disease subtype,Uv-sensitive syndrome 3, +GARD:0015829,Orphanet+OMIM,OMIM:614643,Subtype of disorder,Disease subtype,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7","Walker-warburg syndrome or muscle-eye-brain disease, ispd-related" +GARD:0015830,Orphanet+OMIM,OMIM:614662,Subtype of disorder,Malformation syndrome subtype,Cortisone reductase deficiency 2, +GARD:0015831,Orphanet+OMIM,OMIM:614669,Subtype of disorder,Malformation syndrome subtype,Auriculocondylar syndrome 2, +GARD:0015832,Orphanet+OMIM,OMIM:614672,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 2b", +GARD:0015833,Orphanet+OMIM,OMIM:614673,Subtype of disorder,Etiological subtype,"Microcephaly 8, primary, autosomal recessive", +GARD:0015834,Orphanet+OMIM,OMIM:614678,Subtype of disorder,Malformation syndrome subtype,"Pontocerebellar hypoplasia, type 1b", +GARD:0015835,Orphanet+OMIM,OMIM:614679,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 17","Ciliary dyskinesia, primary, 17, with or without situs inversus" +GARD:0015836,Orphanet+OMIM,OMIM:614699,Subtype of disorder,Disease subtype,"Immunodeficiency, common variable, 7", +GARD:0015837,Orphanet+OMIM,OMIM:614701,Subtype of disorder,Malformation syndrome subtype,Cornelia de lange syndrome 4 with or without midline brain defects, +GARD:0015838,Orphanet+OMIM,OMIM:614714,Subtype of disorder,Disease subtype,"Porokeratosis 7, multiple types", +GARD:0015839,Orphanet+OMIM,OMIM:614731,Subtype of disorder,Disease subtype,"Prostate cancer, hereditary, 2", +GARD:0015840,Orphanet+OMIM,OMIM:614736,Subtype of disorder,Disease subtype,Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency, +GARD:0015841,Orphanet+OMIM,OMIM:614808,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 18, +GARD:0015842,Orphanet+OMIM,OMIM:614814,Subtype of disorder,Malformation syndrome subtype,Adams-oliver syndrome 3, +GARD:0015843,Orphanet+OMIM,OMIM:614815,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 18, +GARD:0015844,Orphanet+OMIM,OMIM:614819,Subtype of disorder,Malformation syndrome subtype,Weill-marchesani syndrome 3, +GARD:0015845,Orphanet+OMIM,OMIM:614820,Subtype of disorder,Disease subtype,Alternating hemiplegia of childhood 2, +GARD:0015846,Orphanet+OMIM,OMIM:614830,Subtype of disorder,Disease subtype,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8","Walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related" +GARD:0015847,Orphanet+OMIM,OMIM:614832,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, hypomaturation type, iia4", +GARD:0015848,Orphanet+OMIM,OMIM:614834,Subtype of disorder,Disease subtype,"Thyrotoxic periodic paralysis, susceptibility to, 3", +GARD:0015849,Orphanet+OMIM,OMIM:614837,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 8 with or without anosmia, +GARD:0015850,Orphanet+OMIM,OMIM:614838,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 9 with or without anosmia, +GARD:0015851,Orphanet+OMIM,OMIM:614840,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 11 with or without anosmia, +GARD:0015852,Orphanet+OMIM,OMIM:614845,Subtype of disorder,Disease subtype,Nephronophthisis 15, +GARD:0015853,Orphanet+OMIM,OMIM:614849,Subtype of disorder,Disease subtype,"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5","Herpes simplex encephalitis, susceptibility to, 3" +GARD:0015854,Orphanet+OMIM,OMIM:614850,Subtype of disorder,Disease subtype,"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6","Herpes simplex encephalitis, susceptibility to, 4" +GARD:0015855,Orphanet+OMIM,OMIM:614852,Subtype of disorder,Etiological subtype,"Microcephaly 9, primary, autosomal recessive", +GARD:0015856,Orphanet+OMIM,OMIM:614856,Subtype of disorder,Clinical subtype,"Osteogenesis imperfecta, type xiii","Oi, type xiii" +GARD:0015857,Orphanet+OMIM,OMIM:614858,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 14 with or without anosmia, +GARD:0015858,Orphanet+OMIM,OMIM:614859,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 3a (zellweger), +GARD:0015859,Orphanet+OMIM,OMIM:614862,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 4a (zellweger), +GARD:0015860,Orphanet+OMIM,OMIM:614863,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 4b, +GARD:0015861,Orphanet+OMIM,OMIM:614866,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 5a (zellweger), +GARD:0015862,Orphanet+OMIM,OMIM:614867,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 5b, +GARD:0015863,Orphanet+OMIM,OMIM:614869,Subtype of disorder,Clinical subtype,"Usher syndrome, type ij", +GARD:0015864,Orphanet+OMIM,OMIM:614870,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 6a (zellweger), +GARD:0015865,Orphanet+OMIM,OMIM:614871,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 6b, +GARD:0015866,Orphanet+OMIM,OMIM:614872,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 7a (zellweger), +GARD:0015867,Orphanet+OMIM,OMIM:614873,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 7b, +GARD:0015868,Orphanet+OMIM,OMIM:614874,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 18","Ciliary dyskinesia, primary, 18, with or without situs inversus" +GARD:0015869,Orphanet+OMIM,OMIM:614876,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 8a (zellweger), +GARD:0015870,Orphanet+OMIM,OMIM:614877,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 8b, +GARD:0015871,Orphanet+OMIM,OMIM:614879,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 9b,"Refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical" +GARD:0015872,Orphanet+OMIM,OMIM:614880,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 15 with or without anosmia, +GARD:0015873,Orphanet+OMIM,OMIM:614882,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 10a (zellweger), +GARD:0015874,Orphanet+OMIM,OMIM:614883,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 11a (zellweger), +GARD:0015875,Orphanet+OMIM,OMIM:614885,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 11b, +GARD:0015876,Orphanet+OMIM,OMIM:614886,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 12a (zellweger), +GARD:0015877,Orphanet+OMIM,OMIM:614887,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 13a (zellweger), +GARD:0015878,Orphanet+OMIM,OMIM:614897,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 16 with or without anosmia, +GARD:0015879,Orphanet+OMIM,OMIM:614900,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 11, +GARD:0015880,Orphanet+OMIM,OMIM:614916,Subtype of disorder,Disease subtype,"Ventricular tachycardia, catecholaminergic polymorphic, 4", +GARD:0015881,Orphanet+OMIM,OMIM:614920,Subtype of disorder,Disease subtype,Peroxisome biogenesis disorder 14b, +GARD:0015882,Orphanet+OMIM,OMIM:614926,Subtype of disorder,Disease subtype,Perrault syndrome 2, +GARD:0015883,Orphanet+OMIM,OMIM:614935,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 19","Ciliary dyskinesia, primary, 19, with or without situs inversus" +GARD:0015884,Orphanet+OMIM,OMIM:614936,Subtype of disorder,Disease subtype,"Palmoplantar keratoderma, punctate type ib", +GARD:0015885,Orphanet+OMIM,OMIM:614941,Subtype of disorder,Etiological subtype,"Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive","Ectodermal dysplasia, hypohidrotic|ectodermal dysplasia, anhidrotic" +GARD:0015886,Orphanet+OMIM,OMIM:614959,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 14,"Epileptic encephalopathy, early infantile, 14" +GARD:0015887,Orphanet+OMIM,OMIM:614970,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 20, +GARD:0015888,Orphanet+OMIM,OMIM:614972,Subtype of disorder,Disease subtype,"Cholestasis, intrahepatic, of pregnancy 3", +GARD:0015889,Orphanet+OMIM,OMIM:614976,Subtype of disorder,Malformation syndrome subtype,Carpenter syndrome 2, +GARD:0015890,Orphanet+OMIM,OMIM:614990,Subtype of disorder,Clinical subtype,"Usher syndrome, type ik", +GARD:0015891,Orphanet+OMIM,OMIM:615005,Subtype of disorder,Disease subtype,"Epilepsy, nocturnal frontal lobe, 5", +GARD:0015892,Orphanet+OMIM,OMIM:615006,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 15,"Epileptic encephalopathy, early infantile, 15" +GARD:0015893,Orphanet+OMIM,OMIM:615007,Subtype of disorder,Disease subtype,"Basal ganglia calcification, idiopathic, 4", +GARD:0015894,Orphanet+OMIM,OMIM:615010,Subtype of disorder,Disease subtype,Aicardi-goutieres syndrome 6, +GARD:0015895,Orphanet+OMIM,OMIM:615022,Subtype of disorder,Disease subtype,"Ichthyosis, congenital, autosomal recessive 7", +GARD:0015896,Orphanet+OMIM,OMIM:615023,Subtype of disorder,Disease subtype,"Ichthyosis, congenital, autosomal recessive 9", +GARD:0015897,Orphanet+OMIM,OMIM:615024,Subtype of disorder,Disease subtype,"Ichthyosis, congenital, autosomal recessive 10", +GARD:0015898,Orphanet+OMIM,OMIM:615041,Subtype of disorder,Disease subtype,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10","Walker-warburg syndrome or muscle-eye-brain disease, tmem5-related" +GARD:0015899,Orphanet+OMIM,OMIM:615058,Subtype of disorder,Disease subtype,"Night blindness, congenital stationary, type 1f", +GARD:0015900,Orphanet+OMIM,OMIM:615059,Subtype of disorder,Disease subtype,Hypotrichosis 11, +GARD:0015901,Orphanet+OMIM,OMIM:615066,Subtype of disorder,Clinical subtype,"Osteogenesis imperfecta, type xiv","Oi, type xiv" +GARD:0015902,Orphanet+OMIM,OMIM:615067,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 20","Ciliary dyskinesia, primary, 20, with or without situs inversus" +GARD:0015903,Orphanet+OMIM,OMIM:615072,Subtype of disorder,Malformation syndrome subtype,"Brachydactyly, type a1, c", +GARD:0015904,Orphanet+OMIM,OMIM:615081,Subtype of disorder,Disease subtype,Spermatogenic failure 11, +GARD:0015905,Orphanet+OMIM,OMIM:615085,Subtype of disorder,Malformation syndrome subtype,"Osteopetrosis, autosomal recessive 8", +GARD:0015906,Orphanet+OMIM,OMIM:615092,Subtype of disorder,Disease subtype,Left ventricular noncompaction 7, +GARD:0015907,Orphanet+OMIM,OMIM:615112,Subtype of disorder,Malformation syndrome subtype,Urofacial syndrome 2, +GARD:0015908,Orphanet+OMIM,OMIM:615120,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 8","Myasthenic syndrome, congenital, with pre- and postsynaptic defects|myasthenic syndrome, congenital, due to agrin deficiency" +GARD:0015909,Orphanet+OMIM,OMIM:615145,Subtype of disorder,Malformation syndrome subtype,"Microphthalmia, isolated, with coloboma 9", +GARD:0015910,Orphanet+OMIM,OMIM:615157,Subtype of disorder,Disease subtype,"Mitochondrial complex iii deficiency, nuclear type 2", +GARD:0015911,Orphanet+OMIM,OMIM:615158,Subtype of disorder,Disease subtype,"Mitochondrial complex iii deficiency, nuclear type 3", +GARD:0015912,Orphanet+OMIM,OMIM:615159,Subtype of disorder,Disease subtype,"Mitochondrial complex iii deficiency, nuclear type 4", +GARD:0015913,Orphanet+OMIM,OMIM:615160,Subtype of disorder,Disease subtype,"Mitochondrial complex iii deficiency, nuclear type 5", +GARD:0015914,Orphanet+OMIM,OMIM:615163,Subtype of disorder,Disease subtype,Cone-rod dystrophy 17, +GARD:0015915,Orphanet+OMIM,OMIM:615181,Subtype of disorder,Disease subtype|Malformation syndrome subtype,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11","Walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related" +GARD:0015916,Orphanet+OMIM,OMIM:615184,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1ii", +GARD:0015917,Orphanet+OMIM,OMIM:615190,Subtype of disorder,Disease subtype,"Dyskeratosis congenita, autosomal recessive 5", +GARD:0015918,Orphanet+OMIM,OMIM:615214,Subtype of disorder,Clinical subtype,"Agammaglobulinemia 7, autosomal recessive","Agammaglobulinemia, autosomal recessive, due to pik3r1 defect" +GARD:0015919,Orphanet+OMIM,OMIM:615220,Subtype of disorder,Clinical subtype,"Osteogenesis imperfecta, type xv","Oi, type xv" +GARD:0015920,Orphanet+OMIM,OMIM:615221,Subtype of disorder,Malformation syndrome subtype,Bone mineral density quantitative trait locus 16,"Osteoporosis, early-onset, susceptibility to" +GARD:0015921,Orphanet+OMIM,OMIM:615222,Subtype of disorder,Disease subtype,Smith-mccort dysplasia 2, +GARD:0015922,Orphanet+OMIM,OMIM:615224,Subtype of disorder,Disease subtype,"Advanced sleep phase syndrome, familial, 2", +GARD:0015923,Orphanet+OMIM,OMIM:615233,Subtype of disorder,Disease subtype,Retinitis pigmentosa 66, +GARD:0015924,Orphanet+OMIM,OMIM:615235,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1jj", +GARD:0015925,Orphanet+OMIM,OMIM:615244,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 8", +GARD:0015926,Orphanet+OMIM,OMIM:615248,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1kk", +GARD:0015927,Orphanet+OMIM,OMIM:615249,Subtype of disorder,Disease subtype,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12","Walker-warburg syndrome or muscle-eye-brain disease, pomk-related" +GARD:0015928,Orphanet+OMIM,OMIM:615266,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 17 with or without anosmia, +GARD:0015929,Orphanet+OMIM,OMIM:615267,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 18 with or without anosmia, +GARD:0015930,Orphanet+OMIM,OMIM:615268,Subtype of disorder,Disease subtype,"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4",Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4 +GARD:0015931,Orphanet+OMIM,OMIM:615269,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 19 with or without anosmia, +GARD:0015932,Orphanet+OMIM,OMIM:615270,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 20 with or without anosmia, +GARD:0015933,Orphanet+OMIM,OMIM:615271,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 21 with or without anosmia, +GARD:0015934,Orphanet+OMIM,OMIM:615272,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group q", +GARD:0015935,Orphanet+OMIM,OMIM:615278,Subtype of disorder,Malformation syndrome subtype,Cardiofaciocutaneous syndrome 2, +GARD:0015936,Orphanet+OMIM,OMIM:615279,Subtype of disorder,Malformation syndrome subtype,Cardiofaciocutaneous syndrome 3, +GARD:0015937,Orphanet+OMIM,OMIM:615280,Subtype of disorder,Malformation syndrome subtype,Cardiofaciocutaneous syndrome 4, +GARD:0015938,Orphanet+OMIM,OMIM:615287,Subtype of disorder,Disease subtype,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13","Walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related" +GARD:0015939,Orphanet+OMIM,OMIM:615293,Subtype of disorder,Disease subtype,"Myofibromatosis, infantile, 2", +GARD:0015940,Orphanet+OMIM,OMIM:615294,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 21","Ciliary dyskinesia, primary, 21, without situs inversus" +GARD:0015941,Orphanet+OMIM,OMIM:615297,Subtype of disorder,Malformation syndrome subtype,Adams-oliver syndrome 4, +GARD:0015942,Orphanet+OMIM,OMIM:615298,Subtype of disorder,Malformation syndrome subtype,"Symphalangism, proximal, 1b", +GARD:0015943,Orphanet+OMIM,OMIM:615300,Subtype of disorder,Disease subtype,Perrault syndrome 4, +GARD:0015944,Orphanet+OMIM,OMIM:615327,Subtype of disorder,Disease subtype,Dowling-degos disease 2, +GARD:0015945,Orphanet+OMIM,OMIM:615338,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 16,"Epileptic encephalopathy, early infantile, 16" +GARD:0015946,Orphanet+OMIM,OMIM:615348,Subtype of disorder,Disease subtype,Nemaline myopathy 8, +GARD:0015947,Orphanet+OMIM,OMIM:615349,Subtype of disorder,Clinical subtype,"Ehlers-danlos syndrome, spondylodysplastic type, 2","Ehlers-danlos syndrome, progeroid type, 2, formerly" +GARD:0015948,Orphanet+OMIM,OMIM:615350,Subtype of disorder,Malformation syndrome subtype,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14","Walker-warburg syndrome or muscle-eye-brain disease, gmppb-related" +GARD:0015949,Orphanet+OMIM,OMIM:615355,Subtype of disorder,Malformation syndrome subtype,Noonan syndrome 8, +GARD:0015950,Orphanet+OMIM,OMIM:615360,Subtype of disorder,Disease subtype,Leber congenital amaurosis 17, +GARD:0015951,Orphanet+OMIM,OMIM:615361,Subtype of disorder,Clinical subtype,"Hypocalcemia, autosomal dominant 2", +GARD:0015952,Orphanet+OMIM,OMIM:615373,Subtype of disorder,Disease subtype,Left ventricular noncompaction 8, +GARD:0015953,Orphanet+OMIM,OMIM:615374,Subtype of disorder,Disease subtype,Cone-rod dystrophy 18, +GARD:0015954,Orphanet+OMIM,OMIM:615377,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 13", +GARD:0015955,Orphanet+OMIM,OMIM:615378,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 14", +GARD:0015956,Orphanet+OMIM,OMIM:615396,Subtype of disorder,Disease subtype,Left ventricular noncompaction 10, +GARD:0015957,Orphanet+OMIM,OMIM:615397,Subtype of disorder,Malformation syndrome subtype,"Meckel syndrome, type 11", +GARD:0015958,Orphanet+OMIM,OMIM:615399,Subtype of disorder,Disease subtype,Paroxysmal nocturnal hemoglobinuria 2, +GARD:0015959,Orphanet+OMIM,OMIM:615402,Subtype of disorder,Disease subtype,Dyschromatosis universalis hereditaria 3, +GARD:0015960,Orphanet+OMIM,OMIM:615413,Subtype of disorder,Disease subtype,Spermatogenic failure 12, +GARD:0015961,Orphanet+OMIM,OMIM:615418,Subtype of disorder,Disease subtype,"Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive", +GARD:0015962,Orphanet+OMIM,OMIM:615422,Subtype of disorder,Disease subtype,Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2,Multisystem proteinopathy 2 +GARD:0015963,Orphanet+OMIM,OMIM:615424,Subtype of disorder,Disease subtype,Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3,Multisystem proteinopathy 3 +GARD:0015964,Orphanet+OMIM,OMIM:615426,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 20, +GARD:0015965,Orphanet+OMIM,OMIM:615434,Subtype of disorder,Disease subtype,Retinitis pigmentosa 82 with or without situs inversus, +GARD:0015966,Orphanet+OMIM,OMIM:615436,Subtype of disorder,Disease subtype,"Aortic aneurysm, familial thoracic 8", +GARD:0015967,Orphanet+OMIM,OMIM:615441,Subtype of disorder,Disease subtype,"Cardiac arrhythmia syndrome, with or without skeletal muscle weakness","Triaden knockout syndrome|ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness" +GARD:0015968,Orphanet+OMIM,OMIM:615444,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 22","Ciliary dyskinesia, primary, 22, with or without situs inversus" +GARD:0015969,Orphanet+OMIM,OMIM:615451,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 23","Ciliary dyskinesia, primary, 23, with or without situs inversus" +GARD:0015970,Orphanet+OMIM,OMIM:615453,Subtype of disorder,Disease subtype,"Mitochondrial complex iii deficiency, nuclear type 6", +GARD:0015971,Orphanet+OMIM,OMIM:615481,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 24","Ciliary dyskinesia, primary, 24, without situs inversus" +GARD:0015972,Orphanet+OMIM,OMIM:615482,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 25","Ciliary dyskinesia, primary, 25, with or without situs inversus" +GARD:0015973,Orphanet+OMIM,OMIM:615483,Subtype of disorder,Disease subtype,"Basal ganglia calcification, idiopathic, 5", +GARD:0015974,Orphanet+OMIM,OMIM:615500,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 26","Ciliary dyskinesia, primary, 26, with or without situs inversus" +GARD:0015975,Orphanet+OMIM,OMIM:615503,Subtype of disorder,Malformation syndrome subtype,Short-rib thoracic dysplasia 8 with or without polydactyly,"Short rib-polydactyly syndrome, type vi" +GARD:0015976,Orphanet+OMIM,OMIM:615504,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 27","Ciliary dyskinesia, primary, 27, without situs inversus" +GARD:0015977,Orphanet+OMIM,OMIM:615505,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 28","Ciliary dyskinesia, primary, 28, with or without situs inversus" +GARD:0015978,Orphanet+OMIM,OMIM:615506,Subtype of disorder,Disease subtype,"Telangiectasia, hereditary hemorrhagic, type 5", +GARD:0015979,Orphanet+OMIM,OMIM:615513,Subtype of disorder,Disease subtype,"Immunodeficiency 14a, autosomal dominant","p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency|Activated pi3k-delta syndrome" +GARD:0015980,Orphanet+OMIM,OMIM:615515,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 19, +GARD:0015981,Orphanet+OMIM,OMIM:615527,Subtype of disorder,Disease subtype,"Candidiasis, familial, 8","Candidiasis, familial chronic mucocutaneous, autosomal recessive" +GARD:0015982,Orphanet+OMIM,OMIM:615539,Subtype of disorder,Disease subtype,"Ehlers-danlos syndrome, musculocontractural type, 2", +GARD:0015983,Orphanet+OMIM,OMIM:615544,Subtype of disorder,Clinical subtype,Periventricular nodular heterotopia 6, +GARD:0015984,Orphanet+OMIM,OMIM:615546,Subtype of disorder,Malformation syndrome subtype,Van maldergem syndrome 2, +GARD:0015985,Orphanet+OMIM,OMIM:615550,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 12, +GARD:0015986,Orphanet+OMIM,OMIM:615557,Subtype of disorder,Disease subtype,"Melioidosis, susceptibility to", +GARD:0015987,Orphanet+OMIM,OMIM:615559,Subtype of disorder,Disease subtype,"Autoimmune lymphoproliferative syndrome, type iii","Immunodeficiency, common variable, 9, formerly" +GARD:0015988,Orphanet+OMIM,OMIM:615565,Subtype of disorder,Disease subtype,Retinitis pigmentosa 67, +GARD:0015989,Orphanet+OMIM,OMIM:615573,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 9", +GARD:0015990,Orphanet+OMIM,OMIM:615577,Subtype of disorder,Disease subtype,"Immunodeficiency, common variable, 10","deficit in anterior pituitary function and variable immunodeficiency|Immunodeficiency, common variable, with central adrenal insufficiency" +GARD:0015991,Orphanet+OMIM,OMIM:615605,Subtype of disorder,Disease subtype,Fanconi renotubular syndrome 3, +GARD:0015992,Orphanet+OMIM,OMIM:615619,Subtype of disorder,Disease subtype,"Cholangiocarcinoma, susceptibility to","Chlc, susceptibility to" +GARD:0015993,Orphanet+OMIM,OMIM:615630,Subtype of disorder,Malformation syndrome subtype,Short-rib thoracic dysplasia 10 with or without polydactyly, +GARD:0015994,Orphanet+OMIM,OMIM:615631,Subtype of disorder,Disease subtype,"Anemia, congenital dyserythropoietic, type ib","Cda, type ib" +GARD:0015995,Orphanet+OMIM,OMIM:615632,Subtype of disorder,Disease subtype,"Neuropathy, hereditary sensory, type if",Hsn if +GARD:0015996,Orphanet+OMIM,OMIM:615633,Subtype of disorder,Malformation syndrome subtype,Short-rib thoracic dysplasia 11 with or without polydactyly, +GARD:0015997,Orphanet+OMIM,OMIM:615636,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 21, +GARD:0015998,Orphanet+OMIM,OMIM:615663,Subtype of disorder,Malformation syndrome subtype,Warburg micro syndrome 4, +GARD:0015999,Orphanet+OMIM,OMIM:615665,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 22, +GARD:0016000,Orphanet+OMIM,OMIM:615670,Subtype of disorder,Disease subtype,Schwannomatosis 2, +GARD:0016001,Orphanet+OMIM,OMIM:615674,Subtype of disorder,Disease subtype,Dowling-degos disease 3, +GARD:0016002,Orphanet+OMIM,OMIM:615696,Subtype of disorder,Disease subtype,Dowling-degos disease 4, +GARD:0016003,Orphanet+OMIM,OMIM:615706,Subtype of disorder,Malformation syndrome subtype,Auriculocondylar syndrome 3, +GARD:0016004,Orphanet+OMIM,OMIM:615725,Subtype of disorder,Disease subtype,Retinitis pigmentosa 68, +GARD:0016005,Orphanet+OMIM,OMIM:615726,Subtype of disorder,Disease subtype,Pachyonychia congenita 3, +GARD:0016006,Orphanet+OMIM,OMIM:615728,Subtype of disorder,Disease subtype,Pachyonychia congenita 4, +GARD:0016007,Orphanet+OMIM,OMIM:615731,Subtype of disorder,Disease subtype,Nemaline myopathy 9, +GARD:0016008,Orphanet+OMIM,OMIM:615744,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 19,"Epileptic encephalopathy, early infantile, 19" +GARD:0016009,Orphanet+OMIM,OMIM:615752,Subtype of disorder,Clinical subtype,"Polymicrogyria, bilateral perisylvian, autosomal recessive",Pmgr +GARD:0016010,Orphanet+OMIM,OMIM:615770,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 15", +GARD:0016011,Orphanet+OMIM,OMIM:615780,Subtype of disorder,Disease subtype,Retinitis pigmentosa 69, +GARD:0016012,Orphanet+OMIM,OMIM:615785,Subtype of disorder,Disease subtype,White sponge nevus 2, +GARD:0016013,Orphanet+OMIM,OMIM:615807,Subtype of disorder,Malformation syndrome subtype,Seckel syndrome 8, +GARD:0016014,Orphanet+OMIM,OMIM:615821,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis", +GARD:0016015,Orphanet+OMIM,OMIM:615824,Subtype of disorder,Disease subtype,"Mitochondrial complex iii deficiency, nuclear type 7", +GARD:0016016,Orphanet+OMIM,OMIM:615830,Subtype of disorder,Disease subtype,"Pigmented nodular adrenocortical disease, primary, 4","chromosome 19p13 duplication syndrome|Cushing syndrome, adrenal, due to ppnad4" +GARD:0016017,Orphanet+OMIM,OMIM:615833,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 21,"Epileptic encephalopathy, early infantile, 21" +GARD:0016018,Orphanet+OMIM,OMIM:615838,Subtype of disorder,Disease subtype,"Mitochondrial complex iii deficiency, nuclear type 8", +GARD:0016019,Orphanet+OMIM,OMIM:615841,Subtype of disorder,Disease subtype,Spermatogenic failure 13, +GARD:0016020,Orphanet+OMIM,OMIM:615842,Subtype of disorder,Disease subtype,Spermatogenic failure 14, +GARD:0016021,Orphanet+OMIM,OMIM:615846,Subtype of disorder,Disease subtype,Aicardi-goutieres syndrome 7, +GARD:0016022,Orphanet+OMIM,OMIM:615860,Subtype of disorder,Disease subtype,Cone-rod dystrophy 19, +GARD:0016023,Orphanet+OMIM,OMIM:615866,Subtype of disorder,Malformation syndrome subtype,Coffin-siris syndrome 9,"Mental retardation, autosomal dominant 27" +GARD:0016024,Orphanet+OMIM,OMIM:615871,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 24,"Epileptic encephalopathy, early infantile, 24" +GARD:0016025,Orphanet+OMIM,OMIM:615872,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 29","Ciliary dyskinesia, primary, 29, without situs inversus" +GARD:0016026,Orphanet+OMIM,OMIM:615883,Subtype of disorder,Disease subtype,"Myopathy, tubular aggregate, 2", +GARD:0016027,Orphanet+OMIM,OMIM:615885,Subtype of disorder,Disease subtype,Hypotrichosis 12, +GARD:0016028,Orphanet+OMIM,OMIM:615887,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, hypomaturation type, iia5", +GARD:0016029,Orphanet+OMIM,OMIM:615896,Subtype of disorder,Disease subtype,Hypotrichosis 13,Hypotrichosis with woolly hair +GARD:0016030,Orphanet+OMIM,OMIM:615909,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 13, +GARD:0016031,Orphanet+OMIM,OMIM:615916,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 1nn", +GARD:0016032,Orphanet+OMIM,OMIM:615922,Subtype of disorder,Disease subtype,Retinitis pigmentosa 70, +GARD:0016033,Orphanet+OMIM,OMIM:615935,Subtype of disorder,Morphological anomaly subtype,Pancreatic agenesis 2,"Pancreatic hypoplasia, congenital 2" +GARD:0016034,Orphanet+OMIM,OMIM:615954,Subtype of disorder,Disease subtype,Acth-independent macronodular adrenal hyperplasia 2,Primary macronodular adrenal hyperplasia +GARD:0016035,Orphanet+OMIM,OMIM:615959,Subtype of disorder,Disease subtype,"Myopathy, centronuclear, 5", +GARD:0016036,Orphanet+OMIM,OMIM:615973,Subtype of disorder,Disease subtype,Cone-rod dystrophy 20, +GARD:0016037,Orphanet+OMIM,OMIM:615990,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 13, +GARD:0016038,Orphanet+OMIM,OMIM:615991,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 14, +GARD:0016039,Orphanet+OMIM,OMIM:615992,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 15, +GARD:0016040,Orphanet+OMIM,OMIM:615993,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 16, +GARD:0016041,Orphanet+OMIM,OMIM:615994,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 17, +GARD:0016042,Orphanet+OMIM,OMIM:615995,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 18, +GARD:0016043,Orphanet+OMIM,OMIM:615996,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 19, +GARD:0016044,Orphanet+OMIM,OMIM:616001,Subtype of disorder,Morphological anomaly subtype,"Breasts and/or nipples, aplasia or hypoplasia of, 2", +GARD:0016045,Orphanet+OMIM,OMIM:616002,Subtype of disorder,Disease subtype,Focal segmental glomerulosclerosis 7,"Glomerulosclerosis, focal segmental, 7" +GARD:0016046,Orphanet+OMIM,OMIM:616005,Subtype of disorder,Disease subtype,Immunodeficiency 36, +GARD:0016047,Orphanet+OMIM,OMIM:616006,Subtype of disorder,Malformation syndrome subtype,Hennekam lymphangiectasia-lymphedema syndrome 2, +GARD:0016048,Orphanet+OMIM,OMIM:616026,Subtype of disorder,Clinical subtype,Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young,Frts4 with mody +GARD:0016049,Orphanet+OMIM,OMIM:616028,Subtype of disorder,Malformation syndrome subtype,Adams-oliver syndrome 5, +GARD:0016050,Orphanet+OMIM,OMIM:616030,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 22 with or without anosmia, +GARD:0016051,Orphanet+OMIM,OMIM:616032,Subtype of disorder,Disease subtype,Focal segmental glomerulosclerosis 8,"Glomerulosclerosis, focal segmental, 8" +GARD:0016052,Orphanet+OMIM,OMIM:616037,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 30","Ciliary dyskinesia, primary, 30, with or without situs inversus" +GARD:0016053,Orphanet+OMIM,OMIM:616040,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant", +GARD:0016054,Orphanet+OMIM,OMIM:616051,Subtype of disorder,Etiological subtype,"Microcephaly 13, primary, autosomal recessive", +GARD:0016055,Orphanet+OMIM,OMIM:616059,Subtype of disorder,Disease subtype,Mirror movements 3, +GARD:0016056,Orphanet+OMIM,OMIM:616063,Subtype of disorder,Disease subtype,"Porokeratosis 8, disseminated superficial actinic type", +GARD:0016057,Orphanet+OMIM,OMIM:616080,Subtype of disorder,Etiological subtype,"Microcephaly 12, primary, autosomal recessive", +GARD:0016058,Orphanet+OMIM,OMIM:616081,Subtype of disorder,Malformation syndrome subtype,"Pontocerebellar hypoplasia, type 1c",Hypomyelination with spinal muscular atrophy and cerebellar hypoplasia +GARD:0016059,Orphanet+OMIM,OMIM:616106,Subtype of disorder,Disease subtype,"Psoriasis 15, pustular, susceptibility to", +GARD:0016060,Orphanet+OMIM,OMIM:616111,Subtype of disorder,Disease subtype,"Mitochondrial complex iii deficiency, nuclear type 9", +GARD:0016061,Orphanet+OMIM,OMIM:616115,Subtype of disorder,Disease subtype,Familial cold autoinflammatory syndrome 4, +GARD:0016062,Orphanet+OMIM,OMIM:616138,Subtype of disorder,Disease subtype,Perrault syndrome 5, +GARD:0016063,Orphanet+OMIM,OMIM:616139,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 27,"Epileptic encephalopathy, early infantile, 27" +GARD:0016064,Orphanet+OMIM,OMIM:616151,Subtype of disorder,Disease subtype,"Macular dystrophy, vitelliform, 4", +GARD:0016065,Orphanet+OMIM,OMIM:616152,Subtype of disorder,Disease subtype,"Macular dystrophy, vitelliform, 5", +GARD:0016066,Orphanet+OMIM,OMIM:616165,Subtype of disorder,Disease subtype,Nemaline myopathy 10, +GARD:0016067,Orphanet+OMIM,OMIM:616166,Subtype of disorder,Disease subtype,"Aortic aneurysm, familial thoracic 9","Aortic aneurysm, thoracic, with or without aortic dissection" +GARD:0016068,Orphanet+OMIM,OMIM:616208,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, +GARD:0016069,Orphanet+OMIM,OMIM:616211,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 28,"Epileptic encephalopathy, early infantile, 28" +GARD:0016070,Orphanet+OMIM,OMIM:616220,Subtype of disorder,Disease subtype,Focal segmental glomerulosclerosis 9,"Glomerulosclerosis, focal segmental, 9" +GARD:0016071,Orphanet+OMIM,OMIM:616221,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, type ih", +GARD:0016072,Orphanet+OMIM,OMIM:616229,Subtype of disorder,Clinical subtype,"Osteogenesis imperfecta, type xvi","Oi, type xvi" +GARD:0016073,Orphanet+OMIM,OMIM:616247,Subtype of disorder,Disease subtype,Long qt syndrome 14, +GARD:0016074,Orphanet+OMIM,OMIM:616249,Subtype of disorder,Disease subtype,Long qt syndrome 15, +GARD:0016075,Orphanet,ORPHA:562528,Disorder,Malformation syndrome,Congenital limbs-face contractures-hypotonia-developmental delay syndrome,CLIFAHDD syndrome +GARD:0016076,Orphanet+OMIM,OMIM:616270,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, type if","Amelogenesis imperfecta, hypoplastic type if" +GARD:0016077,Orphanet+OMIM,OMIM:616294,Subtype of disorder,Malformation syndrome subtype,Cole-carpenter syndrome 2, +GARD:0016078,Orphanet+OMIM,OMIM:616298,Subtype of disorder,Malformation syndrome subtype,Singleton-merten syndrome 2, +GARD:0016079,Orphanet+OMIM,OMIM:616300,Subtype of disorder,Malformation syndrome subtype,Short-rib thoracic dysplasia 13 with or without polydactyly, +GARD:0016080,Orphanet+OMIM,OMIM:616304,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 17", +GARD:0016081,Orphanet+OMIM,OMIM:616307,Subtype of disorder,Disease subtype,Senior-loken syndrome 8, +GARD:0016082,Orphanet+OMIM,OMIM:616311,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 33","Mental retardation, autosomal dominant 33" +GARD:0016083,Orphanet+OMIM,OMIM:616314,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency", +GARD:0016084,Orphanet+OMIM,OMIM:616321,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 3a, slow-channel", +GARD:0016085,Orphanet+OMIM,OMIM:616322,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 3b, fast-channel", +GARD:0016086,Orphanet+OMIM,OMIM:616323,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency", +GARD:0016087,Orphanet+OMIM,OMIM:616324,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 4b, fast-channel", +GARD:0016088,Orphanet+OMIM,OMIM:616325,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency", +GARD:0016089,Orphanet+OMIM,OMIM:616326,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency","Myasthenic syndrome, congenital, ie, formerly|cms ie, formerly" +GARD:0016090,Orphanet+OMIM,OMIM:616329,Subtype of disorder,Disease subtype,"Maturity-onset diabetes of the young, type 13","Mody, type 13" +GARD:0016091,Orphanet+OMIM,OMIM:616330,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 18","Myasthenic syndrome, congenital, 18, with intellectual disability and ataxia" +GARD:0016092,Orphanet+OMIM,OMIM:616339,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 29,"Epileptic encephalopathy, early infantile, 29" +GARD:0016093,Orphanet+OMIM,OMIM:616341,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 30,"Epileptic encephalopathy, early infantile, 30" +GARD:0016094,Orphanet+OMIM,OMIM:616346,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 31,"Epileptic encephalopathy, early infantile, 31" +GARD:0016095,Orphanet+OMIM,OMIM:616353,Subtype of disorder,Disease subtype,"Dyskeratosis congenita, autosomal recessive 6", +GARD:0016096,Orphanet+OMIM,OMIM:616366,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 32,"Epileptic encephalopathy, early infantile, 32" +GARD:0016097,Orphanet+OMIM,OMIM:616371,Subtype of disorder,Disease subtype,"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4", +GARD:0016098,Orphanet+OMIM,OMIM:616373,Subtype of disorder,Disease subtype,"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3", +GARD:0016099,Orphanet+OMIM,OMIM:616389,Subtype of disorder,Disease subtype,"Night blindness, congenital stationary, type 1g", +GARD:0016100,Orphanet+OMIM,OMIM:616390,Subtype of disorder,Disease subtype,"Trichothiodystrophy 2, photosensitive", +GARD:0016101,Orphanet+OMIM,OMIM:616394,Subtype of disorder,Disease subtype,Retinitis pigmentosa 71, +GARD:0016102,Orphanet+OMIM,OMIM:616395,Subtype of disorder,Disease subtype,"Trichothiodystrophy 3, photosensitive","Trichothiodystrophy, complementation group a" +GARD:0016103,Orphanet+OMIM,OMIM:616398,Subtype of disorder,Disease subtype,"Dystonia 26, myoclonic", +GARD:0016104,Orphanet+OMIM,OMIM:616399,Subtype of disorder,Disease subtype,Brugada syndrome 9, +GARD:0016105,Orphanet+OMIM,OMIM:616402,Subtype of disorder,Etiological subtype,"Microcephaly 14, primary, autosomal recessive", +GARD:0016106,Orphanet+OMIM,OMIM:616409,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 33,"Epileptic encephalopathy, early infantile, 33" +GARD:0016107,Orphanet+OMIM,OMIM:616413,Subtype of disorder,Disease subtype,"Basal ganglia calcification, idiopathic, 6", +GARD:0016108,Orphanet+OMIM,OMIM:616421,Subtype of disorder,Disease subtype,Myoclonic-atonic epilepsy, +GARD:0016109,Orphanet+OMIM,OMIM:616425,Subtype of disorder,Malformation syndrome subtype,"46,xy sex reversal 10", +GARD:0016110,Orphanet+OMIM,OMIM:616428,Subtype of disorder,Malformation syndrome subtype,"Microphthalmia, isolated, with coloboma 10", +GARD:0016111,Orphanet+OMIM,OMIM:616435,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group t", +GARD:0016112,Orphanet+OMIM,OMIM:616436,Subtype of disorder,Disease subtype,"Epilepsy, familial temporal lobe, 7", +GARD:0016113,Orphanet+OMIM,OMIM:616437,Subtype of disorder,Disease subtype,Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, +GARD:0016114,Orphanet+OMIM,OMIM:616445,Subtype of disorder,Disease subtype,"Candidiasis, familial, 9", +GARD:0016115,Orphanet+OMIM,OMIM:616455,Subtype of disorder,Malformation syndrome subtype,Zimmermann-laband syndrome 2, +GARD:0016116,Orphanet+OMIM,OMIM:616461,Subtype of disorder,Disease subtype,"Epilepsy, familial temporal lobe, 8", +GARD:0016117,Orphanet+OMIM,OMIM:616462,Subtype of disorder,Malformation syndrome subtype,"Acrofacial dysostosis, cincinnati type", +GARD:0016118,Orphanet+OMIM,OMIM:616468,Subtype of disorder,Disease subtype,Exudative vitreoretinopathy 6, +GARD:0016119,Orphanet+OMIM,OMIM:616469,Subtype of disorder,Disease subtype,Retinitis pigmentosa 72, +GARD:0016120,Orphanet+OMIM,OMIM:616470,Subtype of disorder,Disease subtype,Ullrich congenital muscular dystrophy 2, +GARD:0016121,Orphanet+OMIM,OMIM:616471,Subtype of disorder,Disease subtype,Bethlem myopathy 2,"Ehlers-danlos syndrome, myopathic type|eds, myopathic type" +GARD:0016122,Orphanet+OMIM,OMIM:616481,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 32","Ciliary dyskinesia, primary, 32, without situs inversus" +GARD:0016123,Orphanet+OMIM,OMIM:616486,Subtype of disorder,Etiological subtype,"Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities","Microcephaly 15, primary, autosomal recessive" +GARD:0016124,Orphanet+OMIM,OMIM:616490,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 23, +GARD:0016125,Orphanet+OMIM,OMIM:616502,Subtype of disorder,Disease subtype,Cone-rod dystrophy 21,Retinal dystrophy with early macular involvement +GARD:0016126,Orphanet+OMIM,OMIM:616507,Subtype of disorder,Clinical subtype,"Osteogenesis imperfecta, type xvii", +GARD:0016127,Orphanet+OMIM,OMIM:616509,Subtype of disorder,Clinical subtype,Cataract 44,Cataract 44 and hypotrichosis +GARD:0016128,Orphanet+OMIM,OMIM:616511,Subtype of disorder,Disease subtype,"Maturity-onset diabetes of the young, type 14", +GARD:0016129,Orphanet+OMIM,OMIM:616517,Subtype of disorder,Disease subtype,Achromatopsia 7, +GARD:0016130,Orphanet+OMIM,OMIM:616531,Subtype of disorder,Clinical subtype,"Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities","Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" +GARD:0016131,Orphanet+OMIM,OMIM:616532,Subtype of disorder,Disease subtype,"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7","Herpes simplex encephalitis, susceptibility to, 5" +GARD:0016132,Orphanet+OMIM,OMIM:616534,Subtype of disorder,Disease subtype,"Thyroid cancer, nonmedullary, 4", +GARD:0016133,Orphanet+OMIM,OMIM:616535,Subtype of disorder,Disease subtype,"Thyroid cancer, nonmedullary, 5", +GARD:0016134,Orphanet+OMIM,OMIM:616538,Subtype of disorder,Disease subtype,"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9","Walker-warburg syndrome or muscle-eye brain disease, dag1-related" +GARD:0016135,Orphanet+OMIM,OMIM:616544,Subtype of disorder,Disease subtype,Retinitis pigmentosa 73, +GARD:0016136,Orphanet+OMIM,OMIM:616553,Subtype of disorder,Disease subtype,"Dyskeratosis congenita, autosomal dominant 6", +GARD:0016137,Orphanet+OMIM,OMIM:616559,Subtype of disorder,Malformation syndrome subtype,Noonan syndrome 9, +GARD:0016138,Orphanet+OMIM,OMIM:616562,Subtype of disorder,Disease subtype,Retinitis pigmentosa 74, +GARD:0016139,Orphanet+OMIM,OMIM:616564,Subtype of disorder,Malformation syndrome subtype,Noonan syndrome 10, +GARD:0016140,Orphanet+OMIM,OMIM:616570,Subtype of disorder,Clinical subtype,Cerebrooculofacioskeletal syndrome 3, +GARD:0016141,Orphanet+OMIM,OMIM:616576,Subtype of disorder,Disease subtype,"Immunodeficiency, common variable, 12, with autoimmunity",Nfkb1 deficiency +GARD:0016142,Orphanet+OMIM,OMIM:616589,Subtype of disorder,Malformation syndrome subtype,Adams-oliver syndrome 6, +GARD:0016143,Orphanet+OMIM,OMIM:616603,Subtype of disorder,Disease subtype,"Cutis laxa, autosomal dominant 3", +GARD:0016144,Orphanet+OMIM,OMIM:616617,Subtype of disorder,Malformation syndrome subtype,Heimler syndrome 2,Peroxisome biogenesis disorder 4c +GARD:0016145,Orphanet+OMIM,OMIM:616629,Subtype of disorder,Disease subtype,Senior-loken syndrome 9, +GARD:0016146,Orphanet+OMIM,OMIM:616631,Subtype of disorder,Disease subtype,"Porokeratosis 9, multiple types", +GARD:0016147,Orphanet+OMIM,OMIM:616645,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 34,"Epileptic encephalopathy, early infantile, 34" +GARD:0016148,Orphanet+OMIM,OMIM:616648,Subtype of disorder,Disease subtype,Optic atrophy 8, +GARD:0016149,Orphanet+OMIM,OMIM:616649,Subtype of disorder,Disease subtype,"Spherocytosis, type 2","Spherocytosis, hereditary, 2" +GARD:0016150,Orphanet+OMIM,OMIM:616654,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 24, +GARD:0016151,Orphanet+OMIM,OMIM:616681,Subtype of disorder,Etiological subtype,"Microcephaly 16, primary, autosomal recessive", +GARD:0016152,Orphanet+OMIM,OMIM:616689,Subtype of disorder,Disease subtype,Dehydrated hereditary stomatocytosis 2,Xerocytosis gardos|desiccytosis gardos +GARD:0016153,Orphanet+OMIM,OMIM:616720,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 19", +GARD:0016154,Orphanet+OMIM,OMIM:616726,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 33","Ciliary dyskinesia, primary, 33, without situs inversus" +GARD:0016155,Orphanet+OMIM,OMIM:616730,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 11", +GARD:0016156,Orphanet+OMIM,OMIM:616734,Subtype of disorder,Disease subtype,"Skin creases, congenital symmetric circumferential, 2", +GARD:0016157,Orphanet+OMIM,OMIM:616760,Subtype of disorder,Disease subtype,"Woolly hair, autosomal recessive 3","Woolly hair, autosomal recessive 3, with hypotrichosis" +GARD:0016158,Orphanet+OMIM,OMIM:616777,Subtype of disorder,Malformation syndrome subtype,Seckel syndrome 9, +GARD:0016159,Orphanet+OMIM,OMIM:616781,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 25, +GARD:0016160,Orphanet+OMIM,OMIM:616784,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 26, +GARD:0016161,Orphanet+OMIM,OMIM:616792,Subtype of disorder,Disease subtype,"Neuroblastoma, susceptibility to, 7", +GARD:0016162,Orphanet+OMIM,OMIM:616806,Subtype of disorder,Disease subtype,Wilms tumor 6, +GARD:0016163,Orphanet+OMIM,OMIM:616835,Subtype of disorder,Malformation syndrome subtype,Meier-gorlin syndrome 6, +GARD:0016164,Orphanet+OMIM,OMIM:616849,Subtype of disorder,Malformation syndrome subtype,"Brachydactyly, type a1, d", +GARD:0016165,Orphanet+OMIM,OMIM:616882,Subtype of disorder,Disease subtype,"Advanced sleep phase syndrome, familial, 3", +GARD:0016166,Orphanet+OMIM,OMIM:616892,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 12", +GARD:0016167,Orphanet+OMIM,OMIM:616893,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 13", +GARD:0016168,Orphanet+OMIM,OMIM:616910,Subtype of disorder,Malformation syndrome subtype,Immunodeficiency-centromeric instability-facial anomalies syndrome 3, +GARD:0016169,Orphanet+OMIM,OMIM:616911,Subtype of disorder,Malformation syndrome subtype,Immunodeficiency-centromeric instability-facial anomalies syndrome 4, +GARD:0016170,Orphanet+OMIM,OMIM:616938,Subtype of disorder,Malformation syndrome subtype,Coffin-siris syndrome 5, +GARD:0016171,Orphanet+OMIM,OMIM:616941,Subtype of disorder,Clinical subtype,"Agammaglobulinemia 8a, autosomal dominant","agammaglobulinemia, autosomal dominant, due to tcf3 defect|Agm8" +GARD:0016172,Orphanet+OMIM,OMIM:616943,Subtype of disorder,Disease subtype,"Trichothiodystrophy 6, nonphotosensitive", +GARD:0016173,Orphanet+OMIM,OMIM:616950,Subtype of disorder,Disease subtype,Spermatogenic failure 15, +GARD:0016174,Orphanet+OMIM,OMIM:617004,Subtype of disorder,Malformation syndrome subtype,Polycystic liver disease 2 with or without kidney cysts, +GARD:0016175,Orphanet+OMIM,OMIM:617020,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 38,"epileptic encephalopathy, early infantile, 38|Glycosylphosphatidylinositol biosynthesis defect 23" +GARD:0016176,Orphanet+OMIM,OMIM:617023,Subtype of disorder,Disease subtype,Retinitis pigmentosa 75, +GARD:0016177,Orphanet+OMIM,OMIM:617024,Subtype of disorder,Disease subtype,"Night blindness, congenital stationary, type 1h", +GARD:0016178,Orphanet+OMIM,OMIM:617026,Subtype of disorder,Malformation syndrome subtype,"Pontocerebellar hypoplasia, type 2f", +GARD:0016180,Orphanet+OMIM,OMIM:617050,Subtype of disorder,Clinical subtype,Hermansky-pudlak syndrome 10, +GARD:0016181,Orphanet+OMIM,OMIM:617063,Subtype of disorder,Malformation syndrome subtype,Meier-gorlin syndrome 7, +GARD:0016182,Orphanet+OMIM,OMIM:617065,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 40,"Epileptic encephalopathy, early infantile, 40" +GARD:0016183,Orphanet+OMIM,OMIM:617069,Subtype of disorder,Disease subtype,"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3","Progressive external ophthalmoplegia, autosomal recessive 3" +GARD:0016184,Orphanet+OMIM,OMIM:617075,Subtype of disorder,Disease subtype,"Nasopharyngeal carcinoma, susceptibility to, 3", +GARD:0016185,Orphanet+OMIM,OMIM:617088,Subtype of disorder,Malformation syndrome subtype,Short-rib thoracic dysplasia 15 with polydactyly, +GARD:0016186,Orphanet+OMIM,OMIM:617090,Subtype of disorder,Etiological subtype,"Microcephaly 17, primary, autosomal recessive", +GARD:0016187,Orphanet+OMIM,OMIM:617091,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 34","Ciliary dyskinesia, primary, 34, without situs inversus" +GARD:0016188,Orphanet+OMIM,OMIM:617092,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 35","Ciliary dyskinesia, primary, 35, with or without situs inversus" +GARD:0016189,Orphanet+OMIM,OMIM:617102,Subtype of disorder,Malformation syndrome subtype,Short-rib thoracic dysplasia 16 with or without polydactyly, +GARD:0016190,Orphanet+OMIM,OMIM:617105,Subtype of disorder,Clinical syndrome subtype|Disease subtype,Developmental and epileptic encephalopathy 41,"Epileptic encephalopathy, early infantile, 41" +GARD:0016191,Orphanet+OMIM,OMIM:617106,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 42,"Epileptic encephalopathy, early infantile, 42" +GARD:0016192,Orphanet+OMIM,OMIM:617113,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 43,"Epileptic encephalopathy, early infantile, 43" +GARD:0016193,Orphanet+OMIM,OMIM:617119,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 22,"Bardet-biedl syndrome 20, formerly" +GARD:0016194,Orphanet+OMIM,OMIM:617120,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 27, +GARD:0016195,Orphanet+OMIM,OMIM:617121,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 28, +GARD:0016196,Orphanet+OMIM,OMIM:617123,Subtype of disorder,Disease subtype,Retinitis pigmentosa 76, +GARD:0016197,Orphanet+OMIM,OMIM:617127,Subtype of disorder,Malformation syndrome subtype,Orofaciodigital syndrome xv,"oral-facial-digital syndrome, type xv|Ofds xv" +GARD:0016198,Orphanet+OMIM,OMIM:617132,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 44,"Epileptic encephalopathy, early infantile, 44" +GARD:0016199,Orphanet+OMIM,OMIM:617137,Subtype of disorder,Disease subtype,Frontometaphyseal dysplasia 2, +GARD:0016200,Orphanet+OMIM,OMIM:617141,Subtype of disorder,Morphological anomaly subtype,Aniridia 2, +GARD:0016201,Orphanet+OMIM,OMIM:617142,Subtype of disorder,Morphological anomaly subtype,Aniridia 3, +GARD:0016202,Orphanet+OMIM,OMIM:617143,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 20, presynaptic", +GARD:0016203,Orphanet+OMIM,OMIM:617153,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 45,"Epileptic encephalopathy, early infantile, 45" +GARD:0016204,Orphanet+OMIM,OMIM:617158,Subtype of disorder,Disease subtype,"Myopathy, distal, with rimmed vacuoles",Multisystem proteinopathy 4 +GARD:0016205,Orphanet+OMIM,OMIM:617162,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 46,"Epileptic encephalopathy, early infantile, 46" +GARD:0016206,Orphanet+OMIM,OMIM:617166,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 47,"Epileptic encephalopathy, early infantile, 47" +GARD:0016207,Orphanet+OMIM,OMIM:617168,Subtype of disorder,Disease subtype,"Aortic aneurysm, familial thoracic 10","Aortic aneurysm, thoracic, with or without aortic dissection" +GARD:0016208,Orphanet+OMIM,OMIM:617169,Subtype of disorder,Disease subtype,"Intellectual developmental disorder, autosomal recessive 74","Sotos syndrome 3, formerly" +GARD:0016209,Orphanet+OMIM,OMIM:617174,Subtype of disorder,Disease subtype,"Ehlers-danlos syndrome, periodontal type, 2", +GARD:0016210,Orphanet+OMIM,OMIM:617201,Subtype of disorder,Clinical subtype,Periventricular nodular heterotopia 7, +GARD:0016211,Orphanet+OMIM,OMIM:617217,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, hypomaturation type, iia6", +GARD:0016212,Orphanet+OMIM,OMIM:617239,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 21, presynaptic", +GARD:0016213,Orphanet+OMIM,OMIM:617243,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group v", +GARD:0016214,Orphanet+OMIM,OMIM:617244,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group r", +GARD:0016215,Orphanet+OMIM,OMIM:617247,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group u", +GARD:0016216,Orphanet+OMIM,OMIM:617251,Subtype of disorder,Disease subtype,Uncombable hair syndrome 2, +GARD:0016217,Orphanet+OMIM,OMIM:617252,Subtype of disorder,Disease subtype,Uncombable hair syndrome 3, +GARD:0016218,Orphanet+OMIM,OMIM:617276,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 48,"Epileptic encephalopathy, early infantile, 48" +GARD:0016219,Orphanet+OMIM,OMIM:617280,Subtype of disorder,Disease subtype,"Atrial fibrillation, familial, 18", +GARD:0016220,Orphanet+OMIM,OMIM:617297,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, type ij", +GARD:0016221,Orphanet+OMIM,OMIM:617304,Subtype of disorder,Disease subtype,Retinitis pigmentosa 77, +GARD:0016222,Orphanet+OMIM,OMIM:617336,Subtype of disorder,Disease subtype,"Nemaline myopathy 11, autosomal recessive", +GARD:0016223,Orphanet+OMIM,OMIM:617350,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 52,"Epileptic encephalopathy, early infantile, 52" +GARD:0016224,Orphanet+OMIM,OMIM:617389,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 53,"Epileptic encephalopathy, early infantile, 53" +GARD:0016225,Orphanet+OMIM,OMIM:617391,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 54,"Epileptic encephalopathy, early infantile, 54" +GARD:0016226,Orphanet+OMIM,OMIM:617406,Subtype of disorder,Disease subtype,Bardet-biedl syndrome 21, +GARD:0016227,Orphanet+OMIM,OMIM:617408,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 16, +GARD:0016228,Orphanet+OMIM,OMIM:617409,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 17, +GARD:0016229,Orphanet+OMIM,OMIM:617433,Subtype of disorder,Disease subtype,Retinitis pigmentosa 78, +GARD:0016230,Orphanet+OMIM,OMIM:617443,Subtype of disorder,Disease subtype,"Bleeding disorder, platelet-type, 21", +GARD:0016231,Orphanet+OMIM,OMIM:617460,Subtype of disorder,Disease subtype,Retinitis pigmentosa 79, +GARD:0016232,Orphanet+OMIM,OMIM:617493,Subtype of disorder,Clinical syndrome subtype,Neurodevelopmental disorder with involuntary movements, +GARD:0016233,Orphanet+OMIM,OMIM:617520,Subtype of disorder,Etiological subtype,"Microcephaly 18, primary, autosomal dominant", +GARD:0016234,Orphanet+OMIM,OMIM:617542,Subtype of disorder,Disease subtype,"Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development",Developmental split-brain syndrome +GARD:0016235,Orphanet+OMIM,OMIM:617561,Subtype of disorder,Malformation syndrome subtype,Cohen-gibson syndrome, +GARD:0016236,Orphanet+OMIM,OMIM:617562,Subtype of disorder,Malformation syndrome subtype,Meckel syndrome 13, +GARD:0016237,Orphanet+OMIM,OMIM:617565,Subtype of disorder,Disease subtype,Perrault syndrome 6, +GARD:0016238,Orphanet+OMIM,OMIM:617572,Subtype of disorder,Disease subtype,Exudative vitreoretinopathy 7, +GARD:0016239,Orphanet+OMIM,OMIM:617577,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 37","Ciliary dyskinesia, primary, 37, with or without situs inversus" +GARD:0016240,Orphanet+OMIM,OMIM:617598,Subtype of disorder,Malformation syndrome subtype,Mosaic variegated aneuploidy syndrome 3, +GARD:0016241,Orphanet+OMIM,OMIM:617599,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 55,"glycosylphosphatidylinositol biosynthesis defect 14|Epileptic encephalopathy, early infantile, 55" +GARD:0016242,Orphanet+OMIM,OMIM:617610,Subtype of disorder,Disease subtype,Polycystic kidney disease 5, +GARD:0016243,Orphanet+OMIM,OMIM:617622,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 30, +GARD:0016244,Orphanet+OMIM,OMIM:617681,Subtype of disorder,Malformation syndrome subtype,Blepharocheilodontic syndrome 2, +GARD:0016245,Orphanet+OMIM,OMIM:617706,Subtype of disorder,Disease subtype,Spermatogenic failure 22, +GARD:0016246,Orphanet+OMIM,OMIM:617707,Subtype of disorder,Disease subtype,Spermatogenic failure 23, +GARD:0016247,Orphanet+OMIM,OMIM:617729,Subtype of disorder,Malformation syndrome subtype,Galloway-mowat syndrome 3, +GARD:0016248,Orphanet+OMIM,OMIM:617730,Subtype of disorder,Malformation syndrome subtype,Galloway-mowat syndrome 4, +GARD:0016249,Orphanet+OMIM,OMIM:617731,Subtype of disorder,Malformation syndrome subtype,Galloway-mowat syndrome 5, +GARD:0016250,Orphanet+OMIM,OMIM:617760,Subtype of disorder,Disease subtype,"Myopathy, centronuclear, 6, with fiber-type disproportion", +GARD:0016251,Orphanet+OMIM,OMIM:617761,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 31, +GARD:0016252,Orphanet+OMIM,OMIM:617781,Subtype of disorder,Disease subtype,Retinitis pigmentosa 80, +GARD:0016253,Orphanet+OMIM,OMIM:617800,Subtype of disorder,Etiological subtype,"Microcephaly 19, primary, autosomal recessive", +GARD:0016254,Orphanet+OMIM,OMIM:617808,Subtype of disorder,Malformation syndrome subtype,Coffin-siris syndrome 6, +GARD:0016255,Orphanet+OMIM,OMIM:617809,Subtype of disorder,Malformation syndrome subtype,Geleophysic dysplasia 3, +GARD:0016256,Orphanet+OMIM,OMIM:617821,Subtype of disorder,Disease subtype,"Ehlers-danlos syndrome, arthrochalasia type, 2","eds viib|Ehlers-danlos syndrome, type viib, autosomal dominant" +GARD:0016257,Orphanet+OMIM,OMIM:617825,Subtype of disorder,Disease subtype,Glucocorticoid deficiency 5, +GARD:0016258,Orphanet+OMIM,OMIM:617829,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 92,"Epileptic encephalopathy, infantile or early childhood, 2" +GARD:0016259,Orphanet+OMIM,OMIM:617830,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 58,"Epileptic encephalopathy, early infantile, 58" +GARD:0016260,Orphanet+OMIM,OMIM:617831,Subtype of disorder,Disease subtype,"Intellectual developmental disorder, autosomal dominant 55, with seizures","Mental retardation, autosomal dominant 55, with seizures" +GARD:0016261,Orphanet+OMIM,OMIM:617836,Subtype of disorder,Disease subtype,Developmental delay and seizures with or without movement abnormalities, +GARD:0016262,Orphanet+OMIM,OMIM:617839,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 23, +GARD:0016263,Orphanet+OMIM,OMIM:609265,Subtype of disorder,Disease subtype,Li-fraumeni syndrome 2, +GARD:0016264,Orphanet+OMIM,OMIM:617883,Subtype of disorder,Malformation syndrome subtype,"Fanconi anemia, complementation group s", +GARD:0016265,Orphanet+OMIM,OMIM:617892,Subtype of disorder,Disease subtype,"Amyotrophic lateral sclerosis, susceptibility to, 24", +GARD:0016266,Orphanet+OMIM,OMIM:617899,Subtype of disorder,Disease subtype,"Leukodystrophy, hypomyelinating, 14", +GARD:0016267,Orphanet+OMIM,OMIM:617900,Subtype of disorder,Disease subtype,"Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8","Herpes simplex encephalitis, susceptibility to, 6" +GARD:0016268,Orphanet+OMIM,OMIM:617914,Subtype of disorder,Etiological subtype,"Microcephaly 20, primary, autosomal recessive", +GARD:0016269,Orphanet+OMIM,OMIM:617924,Subtype of disorder,Disease subtype,"Epilepsy, juvenile myoclonic, susceptibility to, 10", +GARD:0016270,Orphanet+OMIM,OMIM:617929,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 60,"Epileptic encephalopathy, early infantile, 60" +GARD:0016271,Orphanet+OMIM,OMIM:617938,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 62,"Epileptic encephalopathy, early infantile, 62" +GARD:0016272,Orphanet+OMIM,OMIM:617941,Subtype of disorder,Disease subtype,Shwachman-diamond syndrome 2, +GARD:0016273,Orphanet+OMIM,OMIM:617948,Subtype of disorder,Disease subtype,Elliptocytosis 3, +GARD:0016274,Orphanet+OMIM,OMIM:617960,Subtype of disorder,Disease subtype,Spermatogenic failure 25, +GARD:0016275,Orphanet+OMIM,OMIM:617970,Subtype of disorder,Disease subtype,"Rh-null, amorph type", +GARD:0016276,Orphanet+OMIM,OMIM:617971,Subtype of disorder,Disease subtype,"Methemoglobinemia, beta type", +GARD:0016277,Orphanet+OMIM,OMIM:617973,Subtype of disorder,Disease subtype,"Methemoglobinemia, alpha type", +GARD:0016278,Orphanet+OMIM,OMIM:617983,Subtype of disorder,Etiological subtype,"Microcephaly 21, primary, autosomal recessive", +GARD:0016279,Orphanet+OMIM,OMIM:617984,Subtype of disorder,Etiological subtype,"Microcephaly 22, primary, autosomal recessive", +GARD:0016280,Orphanet+OMIM,OMIM:617985,Subtype of disorder,Etiological subtype,"Microcephaly 23, primary, autosomal recessive", +GARD:0016281,Orphanet+OMIM,OMIM:617993,Subtype of disorder,Clinical subtype,"Tumoral calcinosis, hyperphosphatemic, familial, 2", +GARD:0016282,Orphanet+OMIM,OMIM:617994,Subtype of disorder,Clinical subtype,"Tumoral calcinosis, hyperphosphatemic, familial, 3", +GARD:0016283,Orphanet+OMIM,OMIM:618008,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 65,"Epileptic encephalopathy, early infantile, 65" +GARD:0016284,Orphanet+OMIM,OMIM:618011,Subtype of disorder,Disease subtype,Hyperekplexia 4, +GARD:0016285,Orphanet+OMIM,OMIM:618012,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 93, +GARD:0016286,Orphanet+OMIM,OMIM:618021,Subtype of disorder,Malformation syndrome subtype,Tetraamelia syndrome 2,Tetraamelia syndrome 2 with pulmonary agenesis +GARD:0016287,Orphanet+OMIM,OMIM:618027,Subtype of disorder,Malformation syndrome subtype,Coffin-siris syndrome 7, +GARD:0016288,Orphanet+OMIM,OMIM:618063,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 38","Ciliary dyskinesia, primary, 38, with or without situs inversus" +GARD:0016289,Orphanet+OMIM,OMIM:618065,Subtype of disorder,Malformation syndrome subtype,"Pontocerebellar hypoplasia, type 1d", +GARD:0016290,Orphanet+OMIM,OMIM:618086,Subtype of disorder,Disease subtype,Spermatogenic failure 28, +GARD:0016291,Orphanet+OMIM,OMIM:618110,Subtype of disorder,Disease subtype,Spermatogenic failure 30, +GARD:0016292,Orphanet+OMIM,OMIM:618115,Subtype of disorder,Disease subtype,Spermatogenic failure 32, +GARD:0016293,Orphanet+OMIM,OMIM:618123,Subtype of disorder,Malformation syndrome subtype,"Polydactyly, postaxial, type a8", +GARD:0016294,Orphanet+OMIM,OMIM:618135,Subtype of disorder,Disease subtype,"Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8","muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related|Muscular dystrophy, limb-girdle, autosomal recessive 24" +GARD:0016295,Orphanet+OMIM,OMIM:618141,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 67,"Epileptic encephalopathy, early infantile, 67" +GARD:0016296,Orphanet+OMIM,OMIM:618154,Subtype of disorder,Malformation syndrome subtype,Hennekam lymphangiectasia-lymphedema syndrome 3, +GARD:0016297,Orphanet+OMIM,OMIM:618161,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 35, +GARD:0016298,Orphanet+OMIM,OMIM:618173,Subtype of disorder,Disease subtype,Retinitis pigmentosa 83, +GARD:0016299,Orphanet+OMIM,OMIM:618176,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 17", +GARD:0016300,Orphanet+OMIM,OMIM:618177,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 18", +GARD:0016301,Orphanet+OMIM,OMIM:618178,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 19", +GARD:0016302,Orphanet+OMIM,OMIM:618179,Subtype of disorder,Etiological subtype|Disease subtype,"Microcephaly 24, primary, autosomal recessive", +GARD:0016303,Orphanet+OMIM,OMIM:618185,Subtype of disorder,Clinical subtype,Periventricular nodular heterotopia 8, +GARD:0016304,Orphanet+OMIM,OMIM:618188,Subtype of disorder,Disease subtype,"Hyperparathyroidism, transient neonatal", +GARD:0016305,Orphanet+OMIM,OMIM:618189,Subtype of disorder,Disease subtype,"Cardiomyopathy, dilated, 2c", +GARD:0016306,Orphanet+OMIM,OMIM:618195,Subtype of disorder,Disease subtype,Intellectual developmental disorder and retinitis pigmentosa, +GARD:0016307,Orphanet+OMIM,OMIM:618196,Subtype of disorder,Morphological anomaly subtype,Capillary malformation-arteriovenous malformation 2, +GARD:0016308,Orphanet+OMIM,OMIM:618197,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 23, presynaptic", +GARD:0016309,Orphanet+OMIM,OMIM:618198,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 24, presynaptic", +GARD:0016310,Orphanet+OMIM,OMIM:618201,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 68,"Epileptic encephalopathy, early infantile, 68" +GARD:0016311,Orphanet+OMIM,OMIM:618220,Subtype of disorder,Disease subtype,Retinitis pigmentosa 84, +GARD:0016312,Orphanet+OMIM,OMIM:618222,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 2", +GARD:0016313,Orphanet+OMIM,OMIM:618224,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 3", +GARD:0016314,Orphanet+OMIM,OMIM:618225,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 4", +GARD:0016315,Orphanet+OMIM,OMIM:618226,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 5", +GARD:0016316,Orphanet+OMIM,OMIM:618228,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 6", +GARD:0016317,Orphanet+OMIM,OMIM:618229,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 7", +GARD:0016318,Orphanet+OMIM,OMIM:618230,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 8", +GARD:0016319,Orphanet+OMIM,OMIM:618232,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 9", +GARD:0016320,Orphanet+OMIM,OMIM:618233,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 10", +GARD:0016321,Orphanet+OMIM,OMIM:618234,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 11", +GARD:0016322,Orphanet+OMIM,OMIM:618236,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 14", +GARD:0016323,Orphanet+OMIM,OMIM:618237,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 15", +GARD:0016324,Orphanet+OMIM,OMIM:618238,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 16", +GARD:0016325,Orphanet+OMIM,OMIM:618240,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 18", +GARD:0016326,Orphanet+OMIM,OMIM:618241,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 19", +GARD:0016327,Orphanet+OMIM,OMIM:618242,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 21", +GARD:0016328,Orphanet+OMIM,OMIM:618245,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 24", +GARD:0016329,Orphanet+OMIM,OMIM:618246,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 25", +GARD:0016330,Orphanet+OMIM,OMIM:618250,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 29", +GARD:0016331,Orphanet+OMIM,OMIM:618251,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 31", +GARD:0016332,Orphanet+OMIM,OMIM:618253,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 33", +GARD:0016333,Orphanet+OMIM,OMIM:618264,Subtype of disorder,Disease subtype,Mirror movements 4, +GARD:0016334,Orphanet+OMIM,OMIM:618267,Subtype of disorder,Disease subtype,"Epidermodysplasia verruciformis, susceptibility to, 3", +GARD:0016335,Orphanet+OMIM,OMIM:618275,Subtype of disorder,Disease subtype,Hypotrichosis 14, +GARD:0016336,Orphanet+OMIM,OMIM:618298,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 70,"Epileptic encephalopathy, early infantile, 70" +GARD:0016337,Orphanet+OMIM,OMIM:618309,Subtype of disorder,Disease subtype,"Epidermodysplasia verruciformis, susceptibility to, 5", +GARD:0016338,Orphanet+OMIM,OMIM:618310,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 18, +GARD:0016339,Orphanet+OMIM,OMIM:618312,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 19, +GARD:0016340,Orphanet+OMIM,OMIM:618313,Subtype of disorder,Disease subtype,Diamond-blackfan anemia 20, +GARD:0016341,Orphanet+OMIM,OMIM:618323,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 25, presynaptic", +GARD:0016342,Orphanet+OMIM,OMIM:618345,Subtype of disorder,Disease subtype,Retinitis pigmentosa 85, +GARD:0016343,Orphanet+OMIM,OMIM:618347,Subtype of disorder,Malformation syndrome subtype,Galloway-mowat syndrome 6, +GARD:0016344,Orphanet+OMIM,OMIM:618348,Subtype of disorder,Malformation syndrome subtype,Galloway-mowat syndrome 7, +GARD:0016345,Orphanet+OMIM,OMIM:618349,Subtype of disorder,Malformation syndrome subtype,Galloway-mowat syndrome 8, +GARD:0016346,Orphanet+OMIM,OMIM:618351,Subtype of disorder,Etiological subtype,"Microcephaly 25, primary, autosomal recessive", +GARD:0016347,Orphanet+OMIM,OMIM:618362,Subtype of disorder,Malformation syndrome subtype,Coffin-siris syndrome 8, +GARD:0016348,Orphanet+OMIM,OMIM:618395,Subtype of disorder,Disease subtype,"Spondyloepimetaphyseal dysplasia with joint laxity, type 3", +GARD:0016349,Orphanet+OMIM,OMIM:618396,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 74,"Epileptic encephalopathy, early infantile, 74" +GARD:0016350,Orphanet+OMIM,OMIM:618415,Subtype of disorder,Clinical subtype,Cataract 48, +GARD:0016351,Orphanet+OMIM,OMIM:618435,Subtype of disorder,Malformation syndrome subtype,"Arthrogryposis, distal, type 2b2", +GARD:0016352,Orphanet+OMIM,OMIM:618437,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 75,"Epileptic encephalopathy, early infantile, 75" +GARD:0016353,Orphanet+OMIM,OMIM:618449,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 41", +GARD:0016354,Orphanet+OMIM,OMIM:618464,Subtype of disorder,Disease subtype,Paragangliomas 6, +GARD:0016355,Orphanet+OMIM,OMIM:618468,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 76,"developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination|Epileptic encephalopathy, early infantile, 76" +GARD:0016356,Orphanet+OMIM,OMIM:618475,Subtype of disorder,Disease subtype,Paragangliomas 7, +GARD:0016357,Orphanet+OMIM,OMIM:618499,Subtype of disorder,Malformation syndrome subtype,Noonan syndrome 11, +GARD:0016358,Orphanet+OMIM,OMIM:618506,Subtype of disorder,Malformation syndrome subtype,Coffin-siris syndrome 10, +GARD:0016359,Orphanet+OMIM,OMIM:618513,Subtype of disorder,Disease subtype,Leber congenital amaurosis 19, +GARD:0016360,Orphanet+OMIM,OMIM:618534,Subtype of disorder,Disease subtype,Immunodeficiency 64, +GARD:0016361,Orphanet+OMIM,OMIM:618535,Subtype of disorder,Etiological subtype,"Ectodermal dysplasia 15, hypohidrotic/hair type", +GARD:0016362,Orphanet+OMIM,OMIM:618546,Subtype of disorder,Disease subtype,"Trichothiodystrophy 7, nonphotosensitive", +GARD:0016363,Orphanet+OMIM,OMIM:618548,Subtype of disorder,Clinical syndrome subtype,Multiple congenital anomalies-hypotonia-seizures syndrome 4,"developmental and epileptic encephalopathy 77|Glycosylphosphatidylinositol biosynthesis defect 19|epileptic encephalopathy, early infantile, 77" +GARD:0016364,Orphanet+OMIM,OMIM:618555,Subtype of disorder,Disease subtype,"Night blindness, congenital stationary, type1i", +GARD:0016365,Orphanet+OMIM,OMIM:618557,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 78,"Epileptic encephalopathy, early infantile, 78" +GARD:0016366,Orphanet+OMIM,OMIM:618559,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 79,"Epileptic encephalopathy, early infantile, 79" +GARD:0016367,Orphanet+OMIM,OMIM:618587,Subtype of disorder,Disease subtype,"Intellectual developmental disorder, autosomal dominant 60, with seizures","Mental retardation, autosomal dominant 60, with seizures" +GARD:0016368,Orphanet+OMIM,OMIM:618613,Subtype of disorder,Disease subtype,Retinitis pigmentosa 86, +GARD:0016369,Orphanet+OMIM,OMIM:618624,Subtype of disorder,Malformation syndrome subtype,Noonan syndrome 12, +GARD:0016370,Orphanet+OMIM,OMIM:618632,Subtype of disorder,Clinical subtype,"Usher syndrome, type 1m", +GARD:0016371,Orphanet+OMIM,OMIM:618658,Subtype of disorder,Malformation syndrome subtype,Zimmermann-laband syndrome 3, +GARD:0016372,Orphanet+OMIM,OMIM:618666,Subtype of disorder,Disease subtype,Sitosterolemia 2, +GARD:0016373,Orphanet+OMIM,OMIM:618695,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 42","Ciliary dyskinesia, primary, 42, without situs inversus" +GARD:0016374,Orphanet+OMIM,OMIM:618697,Subtype of disorder,Disease subtype,Retinitis pigmentosa 87 with choroidal involvement, +GARD:0016375,Orphanet+OMIM,OMIM:618752,Subtype of disorder,Disease subtype,"Neutropenia, severe congenital, 8, autosomal dominant","Neutropenia, severe congenital, 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities|shwachman-diamond syndrome-like" +GARD:0016376,Orphanet+OMIM,OMIM:618763,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 36, +GARD:0016377,Orphanet+OMIM,OMIM:618775,Subtype of disorder,Disease subtype,"Mitochondrial complex iii deficiency, nuclear type 10", +GARD:0016378,Orphanet+OMIM,OMIM:618776,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 34", +GARD:0016379,Orphanet+OMIM,OMIM:618779,Subtype of disorder,Malformation syndrome subtype,Coffin-siris syndrome 11, +GARD:0016380,Orphanet+OMIM,OMIM:618781,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 44","Ciliary dyskinesia, primary, 44, without situs inversus" +GARD:0016381,Orphanet+OMIM,OMIM:618786,Subtype of disorder,Malformation syndrome subtype,Imagawa-matsumoto syndrome, +GARD:0016382,Orphanet+OMIM,OMIM:618795,Subtype of disorder,Disease subtype,Juvenile arthritis, +GARD:0016383,Orphanet+OMIM,OMIM:618801,Subtype of disorder,Disease subtype,"Ciliary dyskinesia, primary, 45","Ciliary dyskinesia, primary, 45, without situs inversus" +GARD:0016384,Orphanet+OMIM,OMIM:618824,Subtype of disorder,Disease subtype,"Basal ganglia calcification, idiopathic, 8, autosomal recessive", +GARD:0016385,Orphanet+OMIM,OMIM:618826,Subtype of disorder,Disease subtype,Retinitis pigmentosa 88, +GARD:0016386,Orphanet+OMIM,OMIM:618840,Subtype of disorder,Disease subtype,Alopecia-intellectual disability syndrome 4,Alopecia-mental retardation syndrome 4 +GARD:0016387,Orphanet+OMIM,OMIM:618841,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 25 with anosmia, +GARD:0016388,Orphanet+OMIM,OMIM:618856,Subtype of disorder,Disease subtype,"Diabetes mellitus, permanent neonatal, 2", +GARD:0016389,Orphanet+OMIM,OMIM:618857,Subtype of disorder,Disease subtype,"Diabetes mellitus, permanent neonatal, 3", +GARD:0016390,Orphanet+OMIM,OMIM:618858,Subtype of disorder,Disease subtype,"Diabetes mellitus, permanent neonatal, 4", +GARD:0016391,Orphanet+OMIM,OMIM:618910,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 86,"Epileptic encephalopathy, early infantile, 86" +GARD:0016392,Orphanet+OMIM,OMIM:618913,Subtype of disorder,Disease subtype,Fanconi renotubular syndrome 5,"Fanconi renotubular syndrome, acadian variant" +GARD:0016393,Orphanet+OMIM,OMIM:618916,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 87,"Epileptic encephalopathy, early infantile, 87" +GARD:0016394,Orphanet+OMIM,OMIM:618918,Subtype of disorder,Clinical subtype,Periventricular nodular heterotopia 9, +GARD:0016395,Orphanet+OMIM,OMIM:618935,Subtype of disorder,Disease subtype,"Granulomatous disease, chronic, autosomal recessive, 5","Granulomatous disease, chronic, due to cybc1 deficiency" +GARD:0016396,Orphanet+OMIM,OMIM:618939,Subtype of disorder,Malformation syndrome subtype,Treacher collins syndrome 4, +GARD:0016397,Orphanet+OMIM,OMIM:618940,Subtype of disorder,Disease subtype,Oculopharyngodistal myopathy 2, +GARD:0016398,Orphanet+OMIM,OMIM:618959,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 88,"Epileptic encephalopathy, early infantile, 88" +GARD:0016399,Orphanet+OMIM,OMIM:618977,Subtype of disorder,Disease subtype,Optic atrophy 12, +GARD:0016400,Orphanet+OMIM,OMIM:618998,Subtype of disorder,Disease subtype,Immune dysregulation and systemic hyperinflammation syndrome,"Hemophagocytic lymphohistiocytosis, familial, 6, formerly" +GARD:0016401,Orphanet+OMIM,OMIM:619003,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 35", +GARD:0016402,Orphanet+OMIM,OMIM:619016,Subtype of disorder,Disease subtype,Ifap syndrome 2,"Ichthyosis follicularis, atrichia, and photophobia syndrome 2" +GARD:0016403,Orphanet+OMIM,OMIM:619028,Subtype of disorder,Disease subtype,"Coenzyme q10 deficiency, primary, 9", +GARD:0016404,Orphanet+OMIM,OMIM:619046,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 3", +GARD:0016405,Orphanet+OMIM,OMIM:619048,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 4", +GARD:0016406,Orphanet+OMIM,OMIM:619051,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 7", +GARD:0016407,Orphanet+OMIM,OMIM:619052,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 8", +GARD:0016408,Orphanet+OMIM,OMIM:619053,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 10", +GARD:0016409,Orphanet+OMIM,OMIM:619054,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 11", +GARD:0016410,Orphanet+OMIM,OMIM:619055,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 12", +GARD:0016411,Orphanet+OMIM,OMIM:619058,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 14", +GARD:0016412,Orphanet+OMIM,OMIM:619059,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 15", +GARD:0016413,Orphanet+OMIM,OMIM:619060,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 16", +GARD:0016414,Orphanet+OMIM,OMIM:619061,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 17", +GARD:0016415,Orphanet+OMIM,OMIM:619062,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 18", +GARD:0016416,Orphanet+OMIM,OMIM:619063,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 19", +GARD:0016417,Orphanet+OMIM,OMIM:619064,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 20", +GARD:0016418,Orphanet+OMIM,OMIM:619065,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 21", +GARD:0016419,Orphanet+OMIM,OMIM:619087,Subtype of disorder,Malformation syndrome subtype,Noonan syndrome 13, +GARD:0016420,Orphanet+OMIM,OMIM:619108,Subtype of disorder,Disease subtype,Spermatogenic failure 48, +GARD:0016421,Orphanet+OMIM,OMIM:619110,Subtype of disorder,Malformation syndrome subtype,"Arthrogryposis, distal, type 1c", +GARD:0016422,Orphanet+OMIM,OMIM:619111,Subtype of disorder,Disease subtype,Coach syndrome 2, +GARD:0016423,Orphanet+OMIM,OMIM:619113,Subtype of disorder,Disease subtype,Coach syndrome 3, +GARD:0016424,Orphanet+OMIM,OMIM:619124,Subtype of disorder,Disease subtype,Developmental and epileptic encephalopathy 89, +GARD:0016425,Orphanet+OMIM,OMIM:619133,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, +GARD:0016426,Orphanet+OMIM,OMIM:619135,Subtype of disorder,Malformation syndrome subtype,Ritscher-schinzel syndrome 3, +GARD:0016427,Orphanet+OMIM,OMIM:619141,Subtype of disorder,Disease subtype,Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, +GARD:0016428,Orphanet+OMIM,OMIM:619155,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 22", +GARD:0016429,Orphanet+OMIM,OMIM:619166,Subtype of disorder,Disease subtype,"Mitochondrial complex ii deficiency, nuclear type 2", +GARD:0016430,Orphanet+OMIM,OMIM:619167,Subtype of disorder,Disease subtype,"Mitochondrial complex ii deficiency, nuclear type 3", +GARD:0016431,Orphanet+OMIM,OMIM:619170,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 36", +GARD:0016432,Orphanet+OMIM,OMIM:619179,Subtype of disorder,Etiological subtype,"Microcephaly 26, primary, autosomal dominant", +GARD:0016433,Orphanet+OMIM,OMIM:619180,Subtype of disorder,Etiological subtype,"Microcephaly 27, primary, autosomal dominant", +GARD:0016434,Orphanet+OMIM,OMIM:619185,Subtype of disorder,Malformation syndrome subtype,Joubert syndrome 37, +GARD:0016435,Orphanet+OMIM,OMIM:619201,Subtype of disorder,Disease subtype,"Nephrotic syndrome, type 23", +GARD:0016436,Orphanet+OMIM,OMIM:619202,Subtype of disorder,Disease subtype,Spermatogenic failure 52, +GARD:0016437,Orphanet+OMIM,OMIM:619208,Subtype of disorder,Disease subtype,Olmsted syndrome 2,"Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2" +GARD:0016438,Orphanet+OMIM,OMIM:619224,Subtype of disorder,Disease subtype,"Mitochondrial complex ii deficiency, nuclear type 4", +GARD:0016439,Orphanet+OMIM,OMIM:619267,Subtype of disorder,Disease subtype,Glanzmann thrombasthenia 2,"Bleeding disorder, platelet-type, 23" +GARD:0016440,Orphanet+OMIM,OMIM:619272,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 37", +GARD:0016441,Orphanet+OMIM,OMIM:619303,Subtype of disorder,Malformation syndrome subtype,"Pontocerebellar hypoplasia, type 1e", +GARD:0016442,Orphanet+OMIM,OMIM:619304,Subtype of disorder,Malformation syndrome subtype,"Pontocerebellar hypoplasia, type 1f", +GARD:0016443,Orphanet+OMIM,OMIM:619325,Subtype of disorder,Malformation syndrome subtype,Coffin-siris syndrome 12, +GARD:0016444,Orphanet+OMIM,OMIM:619339,Subtype of disorder,Malformation syndrome subtype,Bartsocas-papas syndrome 2,"Popliteal pterygium syndrome, bartsocas-papas type 2" +GARD:0016445,Orphanet+OMIM,OMIM:619340,Subtype of disorder,Clinical syndrome subtype,Developmental and epileptic encephalopathy 96, +GARD:0016446,Orphanet+OMIM,OMIM:619350,Subtype of disorder,Disease subtype,Visceral myopathy 2, +GARD:0016447,Orphanet+OMIM,OMIM:619351,Subtype of disorder,Malformation syndrome subtype,Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, +GARD:0016448,Orphanet+OMIM,OMIM:619355,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 22", +GARD:0016449,Orphanet+OMIM,OMIM:613093,Subtype of disorder,Disease subtype,Cone dystrophy 4, +GARD:0016450,Orphanet+OMIM,OMIM:158350,Subtype of disorder,Disease subtype,Cowden syndrome 1,"ruvalcaba-myhre-smith syndrome|macrocephaly, multiple lipomas, and hemangiomata|bannayan-riley-ruvalcaba syndrome|multiple hamartoma syndrome|riley-smith syndrome|pten hamartoma tumor syndrome with granular cell tumor|macrocephaly, pseudopapilledema, and multiple hemangiomata|Cs|bannayan-zonana syndrome|pten hamartoma tumor syndrome" +GARD:0016451,Orphanet+OMIM,OMIM:251450,Subtype of disorder,Malformation syndrome subtype,Desbuquois dysplasia 1,micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|Desbuquois syndrome +GARD:0016452,Orphanet+OMIM,OMIM:278730,Subtype of disorder,Disease subtype,"Xeroderma pigmentosum, complementation group d","Xp, group d|xp, group h, formerly|xeroderma pigmentosum iv|xp4 xeroderma pigmentosum viii, formerly" +GARD:0016453,Orphanet+OMIM,OMIM:611944,Subtype of disorder,Disease subtype,Lymphatic malformation 2, +GARD:0016454,Orphanet+OMIM,OMIM:612580,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 3","Mental retardation, autosomal dominant 3" +GARD:0016455,Orphanet+OMIM,OMIM:612581,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 4", +GARD:0016456,Orphanet+OMIM,OMIM:613480,Subtype of disorder,Disease subtype,Lymphatic malformation 3,"Lymphedema, hereditary, ic, formerly" +GARD:0016457,Orphanet+OMIM,OMIM:613943,Subtype of disorder,Disease subtype,"Ichthyosis, congenital, autosomal recessive 8","Lamellar ichthyosis, late-onset|ichthyosis, lamellar, 4, formerly" +GARD:0016458,Orphanet+OMIM,OMIM:614113,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 2", +GARD:0016459,Orphanet+OMIM,OMIM:614255,Subtype of disorder,Etiological subtype,Nescav syndrome,"Neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment|mental retardation, autosomal dominant 9, formerly" +GARD:0016460,Orphanet+OMIM,OMIM:614256,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 10","Mental retardation, autosomal dominant 10" +GARD:0016461,Orphanet+OMIM,OMIM:614257,Subtype of disorder,Etiological subtype,Chromosome 20q11-q12 deletion syndrome,"mental retardation, autosomal dominant 11, included|Intellectual developmental disorder, autosomal dominant 11, included" +GARD:0016462,Orphanet+OMIM,OMIM:614563,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 13","mental retardation, autosomal dominant 13, with neuronal migration defects|Mental retardation, autosomal dominant 13" +GARD:0016463,Orphanet+OMIM,OMIM:615107,Subtype of disorder,Disease subtype,Cowden syndrome 4, +GARD:0016464,Orphanet+OMIM,OMIM:615108,Subtype of disorder,Disease subtype,Cowden syndrome 5, +GARD:0016465,Orphanet+OMIM,OMIM:615109,Subtype of disorder,Disease subtype,Cowden syndrome 6, +GARD:0016466,Orphanet+OMIM,OMIM:615777,Subtype of disorder,Malformation syndrome subtype,Desbuquois dysplasia 2,Baratela-scott syndrome +GARD:0016467,Orphanet+OMIM,OMIM:615828,Subtype of disorder,Etiological subtype,Vulto-van silfhout-de vries syndrome,"Intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures|mental retardation, autosomal dominant 24" +GARD:0016468,Orphanet+OMIM,OMIM:615907,Subtype of disorder,Disease subtype,Lymphatic malformation 4,"Lymphedema, hereditary, id, formerly" +GARD:0016469,Orphanet+OMIM,OMIM:616393,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 38","Mental retardation, autosomal dominant 38|psychomotor retardation, epilepsy, and language disability syndrome" +GARD:0016470,Orphanet+OMIM,OMIM:616858,Subtype of disorder,Disease subtype,Cowden syndrome 7, +GARD:0016471,Orphanet+OMIM,OMIM:617571,Subtype of disorder,Disease subtype,"Ichthyosis, congenital, autosomal recessive 14", +GARD:0016472,Orphanet+OMIM,OMIM:617796,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 52","Mental retardation, autosomal dominant 52" +GARD:0016473,Orphanet+OMIM,OMIM:617798,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 53","Mental retardation, autosomal dominant 53" +GARD:0016474,Orphanet+OMIM,OMIM:617799,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 54","Mental retardation, autosomal dominant 54" +GARD:0016475,Orphanet+OMIM,OMIM:618095,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 63","Mental retardation, autosomal recessive 63" +GARD:0016476,Orphanet+OMIM,OMIM:618106,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 58","Mental retardation, autosomal dominant 58" +GARD:0016477,Orphanet+OMIM,OMIM:618330,Subtype of disorder,Etiological subtype,Global developmental delay with or without impaired intellectual development, +GARD:0016478,Orphanet+OMIM,OMIM:619188,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 64","Mental retardation, autosomal dominant 64" +GARD:0016479,Orphanet,ORPHA:663,Disorder,Disease,Mitochondrial DNA-related progressive external ophthalmoplegia,Maternally-inherited CPEO|Maternally-inherited chronic progressive external ophthalmoplegia|mtDNA-related progressive external ophthalmoplegia +GARD:0016480,Orphanet,ORPHA:59181,Disorder,Disease,Sorsby pseudoinflammatory fundus dystrophy, +GARD:0016481,Orphanet,ORPHA:280183,Disorder,Biological anomaly,Methylmalonic aciduria due to transcobalamin receptor defect,"Methylmalonic acidemia, TCb1R type|Methylmalonic acidemia, TCbIR type" +GARD:0016482,Orphanet,ORPHA:91483,Disorder,Morphological anomaly,Rieger anomaly, +GARD:0016483,Orphanet+OMIM,OMIM:618641,Subtype of disorder,Disease subtype,Infantile liver failure syndrome 3, +GARD:0016484,Orphanet,ORPHA:98634,Group of disorders,Category,Anterior segment developmental anomaly without extraocular manifestations, +GARD:0016485,Orphanet,ORPHA:98978,Disorder,Morphological anomaly,Axenfeld anomaly, +GARD:0016486,Orphanet,ORPHA:254892,Disorder,Disease,Autosomal dominant progressive external ophthalmoplegia,adPEO +GARD:0016487,Orphanet,ORPHA:329931,Subtype of disorder,Histopathological subtype,C3 glomerulonephritis, +GARD:0016489,Orphanet,ORPHA:280133,Disorder,Disease,Complement component 3 deficiency,C3 deficiency +GARD:0016490,Orphanet,ORPHA:156005,Group of disorders,Clinical group,Primary early-onset glaucoma, +GARD:0016491,Orphanet+OMIM,OMIM:100070,Subtype of disorder,Disease subtype,"Aortic aneurysm, familial abdominal, 1", +GARD:0016492,Orphanet+OMIM,OMIM:609782,Subtype of disorder,Disease subtype,"Aortic aneurysm, familial abdominal, 2", +GARD:0016493,Orphanet+OMIM,OMIM:611891,Subtype of disorder,Disease subtype,"Aortic aneurysm, familial abdominal, 3", +GARD:0016494,Orphanet+OMIM,OMIM:614375,Subtype of disorder,Disease subtype,"Aortic aneurysm, familial abdominal, 4", +GARD:0016495,Orphanet+OMIM,OMIM:618388,Subtype of disorder,Malformation syndrome subtype,Fetal akinesia deformation sequence 2, +GARD:0016496,Orphanet+OMIM,OMIM:618389,Subtype of disorder,Malformation syndrome subtype,Fetal akinesia deformation sequence 3, +GARD:0016497,Orphanet+OMIM,OMIM:618393,Subtype of disorder,Malformation syndrome subtype,Fetal akinesia deformation sequence 4, +GARD:0016498,Orphanet+OMIM,OMIM:609283,Subtype of disorder,Disease subtype,"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2","Progressive external ophthalmoplegia, autosomal dominant 2" +GARD:0016499,Orphanet+OMIM,OMIM:609286,Subtype of disorder,Disease subtype,"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3","Progressive external ophthalmoplegia, autosomal dominant 3" +GARD:0016500,Orphanet+OMIM,OMIM:610131,Subtype of disorder,Disease subtype,"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4","Progressive external ophthalmoplegia, autosomal dominant 4" +GARD:0016501,Orphanet+OMIM,OMIM:613077,Subtype of disorder,Disease subtype,"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5","Progressive external ophthalmoplegia, autosomal dominant 5" +GARD:0016502,Orphanet+OMIM,OMIM:166780,Subtype of disorder,Malformation syndrome subtype,Otofaciocervical syndrome 1,Ofc +GARD:0016503,Orphanet+OMIM,OMIM:615560,Subtype of disorder,Malformation syndrome subtype,"Otofaciocervical syndrome 2, with t-cell deficiency",Ofc2 +GARD:0016504,Orphanet+OMIM,OMIM:605751,Subtype of disorder,Disease subtype,"Seizures, benign familial infantile, 2","Convulsions, benign familial infantile, 2" +GARD:0016505,Orphanet+OMIM,OMIM:612627,Subtype of disorder,Disease subtype,"Seizures, benign familial infantile, 4", +GARD:0016506,Orphanet+OMIM,OMIM:617080,Subtype of disorder,Disease subtype,"Seizures, benign familial infantile, 5","Convulsions, benign familial infantile, 5" +GARD:0016507,Orphanet+OMIM,OMIM:602096,Subtype of disorder,Disease subtype,Alzheimer disease 5, +GARD:0016508,Orphanet+OMIM,OMIM:605055,Subtype of disorder,Disease subtype,"Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology", +GARD:0016509,Orphanet+OMIM,OMIM:605526,Subtype of disorder,Disease subtype,Alzheimer disease 6, +GARD:0016510,Orphanet+OMIM,OMIM:606187,Subtype of disorder,Disease subtype,Alzheimer disease 7, +GARD:0016511,Orphanet+OMIM,OMIM:606889,Subtype of disorder,Disease subtype,Alzheimer disease 4,"Ad4|alzheimer disease, familial, 4" +GARD:0016512,Orphanet+OMIM,OMIM:607116,Subtype of disorder,Disease subtype,Alzheimer disease 8, +GARD:0016513,Orphanet+OMIM,OMIM:607822,Subtype of disorder,Disease subtype,Alzheimer disease 3,"alzheimer disease, familial, 3|Alzheimer disease 3, early-onset" +GARD:0016514,Orphanet+OMIM,OMIM:609636,Subtype of disorder,Disease subtype,Alzheimer disease 10, +GARD:0016515,Orphanet+OMIM,OMIM:609790,Subtype of disorder,Disease subtype,Alzheimer disease 11, +GARD:0016516,Orphanet+OMIM,OMIM:611073,Subtype of disorder,Disease subtype,Alzheimer disease 12, +GARD:0016517,Orphanet+OMIM,OMIM:611152,Subtype of disorder,Disease subtype,Alzheimer disease 13, +GARD:0016518,Orphanet+OMIM,OMIM:611154,Subtype of disorder,Disease subtype,Alzheimer disease 14, +GARD:0016519,Orphanet+OMIM,OMIM:182230,Subtype of disorder,Disease subtype,Septooptic dysplasia,De morsier syndrome +GARD:0016520,Orphanet+OMIM,OMIM:613986,Subtype of disorder,Disease subtype,"Pituitary hormone deficiency, combined, 6", +GARD:0016521,Orphanet+OMIM,OMIM:607745,Subtype of disorder,Disease subtype,"Seizures, benign familial infantile, 3","seizures, benign familial neonatal-infantile|Convulsions, benign familial infantile, 3" +GARD:0016522,Orphanet,ORPHA:187,Group of disorders,Category,Citrullinemia, +GARD:0016523,Orphanet,ORPHA:364,Disorder,Disease,Glycogen storage disease due to glucose-6-phosphatase deficiency,G6P deficiency|GSD due to G6P deficiency|GSD type 1|GSD type I|Glycogen storage disease due to G6P deficiency|Glycogen storage disease type 1|Glycogen storage disease type I|Glycogenosis type 1|Glycogenosis type I|Hepatorenal glycogenosis|Von Gierke disease +GARD:0016524,Orphanet,ORPHA:79133,Subtype of disorder,Clinical subtype,Focal facial dermal dysplasia type I,"Bitemporal aplasia cutis congenita|Brauer syndrome|FFDD type I|FFDD1|Focal facial dermal dysplasia 1, Brauer type|Focal facial dermal dysplasia type 1" +GARD:0016526,Orphanet,ORPHA:205,Disorder,Disease,Crigler-Najjar syndrome,Bilirubin uridinediphosphate glucuronosyltransferase deficiency|Bilirubin-UGT deficiency +GARD:0016527,Orphanet,ORPHA:301,Group of disorders,Clinical group,Ependymal tumor, +GARD:0016528,Orphanet,ORPHA:317,Disorder,Disease,Erythrokeratodermia variabilis,"EKV|Erythrokeratodermia variabilis, Mendes da Costa type" +GARD:0016529,Orphanet,ORPHA:391,Disorder,Disease,Classic Hodgkin lymphoma,Classic Hodgkin disease +GARD:0016530,Orphanet,ORPHA:416,Disorder,Disease,Primary hyperoxaluria, +GARD:0016531,Orphanet,ORPHA:422,Disorder,Disease,Idiopathic/heritable pulmonary arterial hypertension,Idiopathic and/or familial pulmonary arterial hypertension +GARD:0016532,Orphanet,ORPHA:427,Disorder,Disease,Familial hypoaldosteronism, +GARD:0016533,Orphanet,ORPHA:432,Subtype of disorder,Clinical subtype,Normosmic congenital hypogonadotropic hypogonadism,Normosmic idiopathic hypogonadotropic hypogonadism|nIHH +GARD:0016534,Orphanet,ORPHA:557,Group of disorders,Clinical group,Non-syndromic anorectal malformation,Non-syndromic ARM +GARD:0016535,Orphanet,ORPHA:558,Disorder,Disease,Marfan syndrome,MFS +GARD:0016536,Orphanet,ORPHA:598,Disorder,Disease,Multiminicore myopathy,MmD|Multiminicore disease +GARD:0016537,Orphanet,ORPHA:622,Disorder,Disease,Homocystinuria without methylmalonic aciduria,Functional methionine synthase deficiency|Methylcobalamin deficiency +GARD:0016538,Orphanet,ORPHA:632,Subtype of disorder,Clinical subtype,Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia, +GARD:0016539,Orphanet,ORPHA:650,Disorder,Disease,LCAT deficiency,Lecithin-cholesterol acyltransferase deficiency +GARD:0016540,Orphanet,ORPHA:660,Disorder,Morphological anomaly,Omphalocele, +GARD:0016541,Orphanet,ORPHA:712,Disorder,Disease,Hemolytic anemia due to glucophosphate isomerase deficiency, +GARD:0016542,Orphanet,ORPHA:737,Disorder,Disease,Porokeratosis plantaris palmaris et disseminata,"Palmar, plantar and disseminated porokeratosis" +GARD:0016543,Orphanet,ORPHA:743,Disorder,Disease,Severe hereditary thrombophilia due to congenital protein S deficiency,Autosomal recessive thrombophilia due to congenital protein S deficiency +GARD:0016544,Orphanet,ORPHA:745,Disorder,Disease,Severe hereditary thrombophilia due to congenital protein C deficiency,Autosomal recessive thrombophilia due to PC deficiency|Autosomal recessive thrombophilia due to congenital protein C deficiency +GARD:0016545,Orphanet,ORPHA:756,Disorder,Disease,Pseudohypoaldosteronism type 1,PHA type 1|PHA1 +GARD:0016546,Orphanet,ORPHA:759,Disorder,Disease,Central precocious puberty,CPP|Gonadotropin-dependant precocious puberty +GARD:0016547,Orphanet,ORPHA:768,Group of disorders,Clinical group,Familial long QT syndrome,Congenital long QT syndrome|LQTS +GARD:0016548,Orphanet,ORPHA:785,Disorder,Disease,Estrogen resistance syndrome, +GARD:0016549,Orphanet,ORPHA:833,Disorder,Disease,Encephalopathy due to sulfite oxidase deficiency, +GARD:0016550,Orphanet,ORPHA:844,Disorder,Disease,Lown-Ganong-Levine syndrome,Atrial tachyarrhythmia with short PR interval|LGL syndrome +GARD:0016551,Orphanet,ORPHA:959,Disorder,Malformation syndrome,Acro-renal-ocular syndrome, +GARD:0016552,Orphanet,ORPHA:983,Disorder,Morphological anomaly,Testicular regression syndrome,ETRS|Embryonic testicular regression syndrome|TRS|Vanishing testes syndrome|Vanishing testis syndrome|XY gonadal agenesis syndrome +GARD:0016553,Orphanet,ORPHA:1014,Disorder,Disease,Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome,Devriendt-Vandenberghe-Fryns syndrome +GARD:0016554,Orphanet,ORPHA:1027,Disorder,Malformation syndrome,Autosomal recessive amelia, +GARD:0016555,Orphanet,ORPHA:1083,Disorder,Morphological anomaly,Microlissencephaly, +GARD:0016556,Orphanet,ORPHA:1147,Disorder,Malformation syndrome,Sheldon-Hall syndrome,Distal arthrogryposis type 2B|Freeman-Sheldon syndrome variant +GARD:0016557,Orphanet,ORPHA:1166,Disorder,Morphological anomaly,Congenital unilateral hypoplasia of depressor anguli oris,Isolated asymmetric crying facies +GARD:0016558,Orphanet,ORPHA:1175,Disorder,Disease,X-linked progressive cerebellar ataxia, +GARD:0016559,Orphanet,ORPHA:1178,Disorder,Disease,Ataxia-tapetoretinal degeneration syndrome, +GARD:0016560,Orphanet,ORPHA:1182,Disorder,Disease,Spastic ataxia with congenital miosis,Autosomal dominant spastic ataxia type 7|SPAX7 +GARD:0016561,Orphanet,ORPHA:1194,Disorder,Disease,TMEM70-related mitochondrial encephalo-cardio-myopathy,Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency|Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency|Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency +GARD:0016562,Orphanet,ORPHA:1295,Disorder,Malformation syndrome,Brachytelephalangy-dysmorphism-Kallmann syndrome, +GARD:0016563,Orphanet,ORPHA:1336,Disorder,Disease,Hyperkeratosis-hyperpigmentation syndrome, +GARD:0016564,Orphanet,ORPHA:1344,Disorder,Disease,Atrial standstill,Atrial cardiomyopathy with heart block +GARD:0016565,Orphanet,ORPHA:1422,Disorder,Malformation syndrome,Chondrodysplasia-disorder of sex development syndrome,Nivelon-Nivelon-Mabille syndrome +GARD:0016566,Orphanet,ORPHA:1479,Disorder,Malformation syndrome,Atrial septal defect-atrioventricular conduction defects syndrome, +GARD:0016567,Orphanet,ORPHA:1488,Disorder,Malformation syndrome,Cooper-Jabs syndrome,Aural atresia-multiple congenital anomalies-intellectual disability syndrome +GARD:0016568,Orphanet,ORPHA:1507,Subtype of disorder,Clinical subtype,Autosomal recessive Robinow syndrome,COVESDEM syndrome|Costovertebral segmentation defect-mesomelia syndrome|RRS +GARD:0016569,Orphanet,ORPHA:1561,Disorder,Disease,Fatal infantile cytochrome C oxidase deficiency,Fatal infantile COX deficiency|Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency +GARD:0016570,Orphanet,ORPHA:1587,Disorder,Malformation syndrome,Monosomy 13q14,Del(13)(q14)|Deletion 13q14 +GARD:0016571,Orphanet,ORPHA:1590,Disorder,Malformation syndrome,Distal monosomy 13q,13q32 deletion|Deletion 13q32|Distal 13q deletion|Monosomy 13q32|Telomeric deletion13q +GARD:0016572,Orphanet,ORPHA:1596,Disorder,Malformation syndrome,Distal monosomy 15q,15q26 deletion syndrome|Distal 15q deletion syndrome|Monosomy 15q26|Telomeric 15q deletion syndrome +GARD:0016573,Orphanet,ORPHA:1621,Disorder,Malformation syndrome,3q13 microdeletion syndrome,Del(3)(q13)|Monosomy 3q13 +GARD:0016574,Orphanet,ORPHA:1646,Disorder,Malformation syndrome,Partial chromosome Y deletion,Male sterility due to chromosome Y deletion +GARD:0016575,Orphanet,ORPHA:1653,Disorder,Disease,Dentin dysplasia,DD +GARD:0016576,Orphanet,ORPHA:1670,Disorder,Disease,Chronic diarrhea with villous atrophy, +GARD:0016577,Orphanet,ORPHA:1682,Disorder,Malformation syndrome,Arterial dissection-lentiginosis syndrome, +GARD:0016578,Orphanet,ORPHA:1812,Disorder,Malformation syndrome,Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome, +GARD:0016579,Orphanet,ORPHA:1848,Subtype of disorder,Clinical subtype,"Renal agenesis, bilateral", +GARD:0016580,Orphanet,ORPHA:1926,Disorder,Malformation syndrome,Diabetic embryopathy, +GARD:0016581,Orphanet,ORPHA:1935,Disorder,Clinical syndrome,Early myoclonic encephalopathy,Early myoclonic encephalopathy with suppression-bursts +GARD:0016582,Orphanet,ORPHA:2024,Disorder,Malformation syndrome,Hereditary gingival fibromatosis,Autosomal dominant gingival fibromatosis|Autosomal dominant gingival hyperplasia|Hereditary gingival hyperplasia +GARD:0016583,Orphanet,ORPHA:2028,Subtype of disorder,Clinical subtype,Juvenile hyaline fibromatosis,Murray-Puretic-Drescher syndrome|Puretic syndrome +GARD:0016584,Orphanet,ORPHA:2076,Group of disorders,Clinical group,X-linked intellectual disability-epilepsy syndrome, +GARD:0016585,Orphanet,ORPHA:2138,Disorder,Malformation syndrome,"46,XX ovotesticular disorder of sex development","46,XX ovotesticular DSD" +GARD:0016586,Orphanet,ORPHA:2149,Disorder,Morphological anomaly,Nodular neuronal heterotopia, +GARD:0016587,Orphanet,ORPHA:2197,Disorder,Disease,Idiopathic hypercalciuria, +GARD:0016588,Orphanet,ORPHA:2232,Disorder,Disease,Primary hypergonadotropic hypogonadism-partial alopecia syndrome,Al Awadi-Farag-Teebi syndrome +GARD:0016589,Orphanet,ORPHA:2239,Subtype of disorder,Clinical subtype,Familial isolated hypoparathyroidism due to agenesis of parathyroid gland, +GARD:0016590,Orphanet,ORPHA:2250,Disorder,Disease,Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,Bosma arhinia-microphthalmia syndrome|Bosma-Henkin-Christiansen syndrome +GARD:0016591,Orphanet,ORPHA:2257,Disorder,Morphological anomaly,Primary pulmonary hypoplasia, +GARD:0016592,Orphanet,ORPHA:2301,Disorder,Morphological anomaly,Congenital short bowel syndrome, +GARD:0016593,Orphanet,ORPHA:2310,Disorder,Malformation syndrome,Absence deformity of leg-cataract syndrome, +GARD:0016594,Orphanet,ORPHA:2333,Disorder,Malformation syndrome,Kenny-Caffey syndrome,Kenny syndrome +GARD:0016595,Orphanet,ORPHA:2370,Disorder,Malformation syndrome,Larsen-like osseous dysplasia-short stature syndrome, +GARD:0016596,Orphanet,ORPHA:2374,Disorder,Malformation syndrome,Congenital laryngeal web, +GARD:0016597,Orphanet,ORPHA:2375,Disorder,Malformation syndrome,Laryngeal abductor paralysis-intellectual disability syndrome,Plott syndrome +GARD:0016598,Orphanet,ORPHA:2429,Disorder,Malformation syndrome,Macrocephaly-spastic paraplegia-dysmorphism syndrome,Fryns macrocephaly +GARD:0016599,Orphanet,ORPHA:2430,Disorder,Malformation syndrome,Congenital macroglossia, +GARD:0016600,Orphanet,ORPHA:2451,Disorder,Malformation syndrome,Mucocutaneous venous malformations,Cutaneous and mucosal venous malformation|VMCM +GARD:0016601,Orphanet,ORPHA:2477,Disorder,Malformation syndrome,Megalencephaly,Macroencephaly +GARD:0016602,Orphanet,ORPHA:2489,Disorder,Malformation syndrome,Upper limb defect-eye and ear abnormalities syndrome, +GARD:0016603,Orphanet,ORPHA:2518,Disorder,Malformation syndrome,Autosomal recessive chorioretinopathy-microcephaly syndrome,Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome +GARD:0016604,Orphanet,ORPHA:2680,Disorder,Malformation syndrome,Hypomyelination neuropathy-arthrogryposis syndrome, +GARD:0016605,Orphanet,ORPHA:2688,Disorder,Disease,Adult idiopathic neutropenia,Adult chronic idiopathic neutropenia +GARD:0016606,Orphanet,ORPHA:2714,Disorder,Malformation syndrome,Oculo-palato-cerebral syndrome,Oculo-palato-cerebral dwarfism +GARD:0016607,Orphanet,ORPHA:2718,Disorder,Malformation syndrome,Oculotrichodysplasia,Cecato de Lima-Pinheiro syndrome +GARD:0016608,Orphanet,ORPHA:2733,Disorder,Malformation syndrome,Omodysplasia, +GARD:0016609,Orphanet,ORPHA:2809,Disorder,Disease,Familial recurrent peripheral facial palsy,Familial recurrent Bell palsy +GARD:0016610,Orphanet,ORPHA:2828,Disorder,Disease,Young-onset Parkinson disease,Early-onset Parkinson disease|YOPD +GARD:0016611,Orphanet,ORPHA:2839,Disorder,Malformation syndrome,Pelvis-shoulder dysplasia,Kosenow syndrome|Scapuloiliac dysostosis +GARD:0016612,Orphanet,ORPHA:2868,Disorder,Malformation syndrome,Short stature-valvular heart disease-characteristic facies syndrome, +GARD:0016613,Orphanet,ORPHA:2880,Disorder,Disease,Phosphoenolpyruvate carboxykinase deficiency,PEPCK deficiency +GARD:0016614,Orphanet,ORPHA:2916,Disorder,Malformation syndrome,Postaxial polydactyly-dental and vertebral anomalies syndrome, +GARD:0016615,Orphanet,ORPHA:2951,Disorder,Malformation syndrome,Absent thumb-short stature-immunodeficiency syndrome, +GARD:0016616,Orphanet,ORPHA:2968,Disorder,Disease,Leukocyte adhesion deficiency,LAD +GARD:0016617,Orphanet,ORPHA:2975,Disorder,Malformation syndrome,"46,XX disorder of sex development-skeletal anomalies syndrome", +GARD:0016618,Orphanet,ORPHA:3047,Disorder,Malformation syndrome,"Blepharophimosis-intellectual disability syndrome, SBBYS type",Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome|SBBYS variant of Ohdo syndrome|SBBYSS|Say-Barber-Biesecker-Young-Simpson syndrome +GARD:0016619,Orphanet,ORPHA:3092,Disorder,Morphological anomaly,Fixed subaortic stenosis, +GARD:0016620,Orphanet,ORPHA:3107,Subtype of disorder,Clinical subtype,Autosomal dominant Robinow syndrome, +GARD:0016621,Orphanet,ORPHA:3137,Disorder,Disease,Alpha-N-acetylgalactosaminidase deficiency,NAGA deficiency|Schindler disease +GARD:0016622,Orphanet,ORPHA:3175,Disorder,Disease,X-linked spasticity-intellectual disability-epilepsy syndrome, +GARD:0016623,Orphanet,ORPHA:3189,Disorder,Morphological anomaly,Congenital pulmonary valvar stenosis,Congenital stenosis of pulmonary valve +GARD:0016624,Orphanet,ORPHA:3231,Group of disorders,Clinical group,Deafness-onychodystrophy syndrome,Hearing loss-onychodystrophy syndrome +GARD:0016625,Orphanet,ORPHA:3260,Disorder,Disease,Idiopathic hypereosinophilic syndrome, +GARD:0016626,Orphanet,ORPHA:3366,Disorder,Morphological anomaly,Non-syndromic metopic craniosynostosis,Isolated metopic craniosynostosis|Isolated trigonocephaly|Non-syndromic metopic suture synostosis +GARD:0016627,Orphanet,ORPHA:3384,Disorder,Morphological anomaly,Truncus arteriosus,Common aorticopulmonary trunk|Common arterial trunk|TAC +GARD:0016628,Orphanet,ORPHA:3467,Disorder,Disease,Hereditary xanthinuria,Classic xanthinuria|Xanthic urolithiasis|Xanthine stone disease +GARD:0016629,Orphanet,ORPHA:30925,Subtype of disorder,Clinical subtype,Hereditary central diabetes insipidus,Hereditary CDI|Hereditary neurogenic diabetes insipidus +GARD:0016630,Orphanet,ORPHA:33445,Disorder,Malformation syndrome,Neuroectodermal melanolysosomal disease,Elejalde disease +GARD:0016631,Orphanet,ORPHA:33574,Disorder,Disease,Glutamate-cysteine ligase deficiency,Gamma-glutamylcysteine synthetase deficiency +GARD:0016632,Orphanet,ORPHA:35078,Disorder,Disease,T-B+ severe combined immunodeficiency due to JAK3 deficiency,T-B+ SCID due to JAK3 deficiency +GARD:0016633,Orphanet,ORPHA:35093,Disorder,Morphological anomaly,Non-syndromic sagittal craniosynostosis,Isolated sagittal craniosynostosis|Isolated scaphocephaly|Non-syndromic sagittal suture synostosis +GARD:0016634,Orphanet,ORPHA:35099,Disorder,Morphological anomaly,Non-syndromic bicoronal craniosynostosis,Isolated bicoronal craniosynostosis|Isolated brachycephaly|Non-syndromic bilateral coronal suture synostosis +GARD:0016635,Orphanet,ORPHA:35120,Disorder,Disease,Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency,P5N deficiency|UMPH1 deficiency|Uridine 5'-monophosphate hydrolase deficiency +GARD:0016636,Orphanet,ORPHA:35121,Disorder,Disease,Lysosomal acid phosphatase deficiency, +GARD:0016637,Orphanet,ORPHA:35612,Disorder,Malformation syndrome,Nanophthalmos,Nanophthalmia +GARD:0016638,Orphanet,ORPHA:35664,Subtype of disorder,Etiological subtype,ALDH18A1-related De Barsy syndrome,"Delta-1-pyrroline 5-carboxylate synthetase deficiency|Neurocutaneous syndrome, Bicknell type|P5CS deficiency" +GARD:0016639,Orphanet,ORPHA:35909,Disorder,Disease,Combined deficiency of factor V and factor VIII,F5F8D|FV and FVIII combined deficiency +GARD:0016640,Orphanet,ORPHA:36367,Disorder,Malformation syndrome,Distal monosomy 1q,Distal deletion 1q|Monosomy 1qter|Telomeric deletion 1q +GARD:0016641,Orphanet,ORPHA:37612,Disorder,Disease,Episodic ataxia type 1,Episodic ataxia with myokymia +GARD:0016642,Orphanet,ORPHA:39812,Disorder,Disease,Graft versus host disease,GVH +GARD:0016643,Orphanet,ORPHA:43115,Disorder,Disease,Hereditary myopathy with lactic acidosis due to ISCU deficiency,"Aconitase deficiency|ISCU myopathy|Iron-sulfur cluster deficiency myopathy|Myopathy with exercise intolerance, Swedish type" +GARD:0016644,Orphanet,ORPHA:47159,Disorder,Disease,Proximal renal tubular acidosis,Renal tubular acidosis type 2|pRTA +GARD:0016645,Orphanet,ORPHA:48431,Disorder,Malformation syndrome,Congenital cataracts-facial dysmorphism-neuropathy syndrome,CCFDN +GARD:0016646,Orphanet,ORPHA:50811,Disorder,Disease,Lipodystrophy-intellectual disability-deafness syndrome,Lipodystrophy-intellectual disability-hearing loss syndrome|Rajab-Spranger syndrome +GARD:0016647,Orphanet,ORPHA:50814,Disorder,Malformation syndrome,Craniolenticulosutural dysplasia,Boyadjiev-Jabs syndrome +GARD:0016648,Orphanet,ORPHA:50815,Disorder,Malformation syndrome,Branchiogenic deafness syndrome,Branchiogenic hearing loss syndrome|Mégarbané-Loiselet syndrome +GARD:0016649,Orphanet,ORPHA:50944,Disorder,Disease,Schöpf-Schulz-Passarge syndrome,Eccrine tumors-ectodermal dysplasia|Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome|Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome|Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|SSPS +GARD:0016650,Orphanet,ORPHA:51083,Disorder,Disease,Familial short QT syndrome,SQTS +GARD:0016651,Orphanet,ORPHA:51084,Disorder,Disease,Torsade-de-pointes syndrome with short coupling interval, +GARD:0016652,Orphanet,ORPHA:52047,Disorder,Malformation syndrome,Braddock syndrome,"Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency" +GARD:0016653,Orphanet,ORPHA:52054,Disorder,Malformation syndrome,Craniosynostosis-intracranial calcifications syndrome,Longman-Tolmie syndrome +GARD:0016654,Orphanet,ORPHA:52056,Disorder,Malformation syndrome,Ulnar/fibula ray defect-brachydactyly syndrome,Morava-Mehes syndrome +GARD:0016655,Orphanet,ORPHA:52427,Disorder,Disease,Retinitis punctata albescens,RPA +GARD:0016656,Orphanet,ORPHA:53583,Disorder,Disease,Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,DYT9|Episodic choreoathetosis/spasticity +GARD:0016657,Orphanet,ORPHA:53691,Disorder,Morphological anomaly,Congenital cornea plana, +GARD:0016658,Orphanet,ORPHA:53696,Disorder,Malformation syndrome,Arthrogryposis-anterior horn cell disease syndrome,AAHD|Vuopala disease +GARD:0016659,Orphanet,ORPHA:54057,Disorder,Disease,Thrombotic thrombocytopenic purpura,Moschcowitz disease|TTP +GARD:0016660,Orphanet,ORPHA:55881,Disorder,Disease,Adamantinoma,Adamantinoma of long bones +GARD:0016661,Orphanet,ORPHA:59298,Disorder,Disease,Schilder disease,Myelinoclastic diffuse sclerosis +GARD:0016662,Orphanet,ORPHA:60015,Disorder,Malformation syndrome,Enlarged parietal foramina,Catlin marks|Fenestrae parietales symmetricae|Foramina parietalia permagna|Hereditary cranium bifidum|Symmetric parietal foramina +GARD:0016663,Orphanet,ORPHA:60026,Disorder,Disease,Pulmonary nodular lymphoid hyperplasia,Pulmonary pseudolymphoma +GARD:0016664,Orphanet,ORPHA:60033,Disorder,Disease,Idiopathic bronchiectasis, +GARD:0016665,Orphanet,ORPHA:63269,Subtype of disorder,Clinical subtype,Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis,Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome +GARD:0016666,Orphanet,ORPHA:63273,Disorder,Disease,Distal myopathy with posterior leg and anterior hand involvement,Distal ABD-filaminopathy +GARD:0016667,Orphanet,ORPHA:64280,Disorder,Disease,Childhood absence epilepsy,Pyknolepsy +GARD:0016668,Orphanet,ORPHA:64739,Disorder,Disease,Ovarian hyperstimulation syndrome,OHSS +GARD:0016669,Orphanet,ORPHA:65287,Disorder,Disease,Beta-ureidopropionase deficiency,Beta-alanine synthase deficiency +GARD:0016670,Orphanet,ORPHA:65288,Disorder,Malformation syndrome,Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,Pancreatic and cerebellar agenesis +GARD:0016671,Orphanet,ORPHA:65683,Disorder,Disease,Isolated focal cortical dysplasia,Epilepsy due to FCD +GARD:0016672,Orphanet,ORPHA:65720,Disorder,Malformation syndrome,Arthrogryposis-severe scoliosis syndrome,Distal arthrogryposis type 4|Distal arthrogryposis type IID +GARD:0016673,Orphanet,ORPHA:66630,Disorder,Disease,Congenital pseudoarthrosis of the clavicle,Congenital pseudarthrosis of the clavicle +GARD:0016674,Orphanet,ORPHA:66637,Disorder,Malformation syndrome,Diaphanospondylodysostosis, +GARD:0016675,Orphanet,ORPHA:67041,Disorder,Disease,Hyaluronidase deficiency,MPS9|MPSIX|Mucopolysaccharidosis type 9|Mucopolysaccharidosis type IX +GARD:0016676,Orphanet,ORPHA:67044,Disorder,Disease,Thrombocytopenia with congenital dyserythropoietic anemia,Congenital dyserythropoietic anemia with thombocytopenia|X-linked congenital dyserythropoietic anemia with thrombocytopenia|XDAT +GARD:0016677,Orphanet,ORPHA:67045,Subtype of disorder,Clinical subtype,X-linked intellectual disability with isolated growth hormone deficiency,MRGH +GARD:0016678,Orphanet,ORPHA:69061,Disorder,Clinical syndrome,Idiopathic steroid-sensitive nephrotic syndrome, +GARD:0016679,Orphanet,ORPHA:69082,Disorder,Malformation syndrome,Odonto-tricho-ungual-digito-palmar syndrome,"OTUDP syndrome|Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type" +GARD:0016680,Orphanet,ORPHA:69084,Disorder,Malformation syndrome,Pure hair and nail ectodermal dysplasia,HNED|Hair-nail ectodermal dysplasia|PHNED +GARD:0016681,Orphanet,ORPHA:69088,Disorder,Disease,Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,OL-EDA-ID +GARD:0016682,Orphanet,ORPHA:69125,Disorder,Malformation syndrome,Anonychia with flexural pigmentation, +GARD:0016683,Orphanet,ORPHA:69663,Disorder,Disease,Low phospholipid-associated cholelithiasis,ABCB4-related cholelithiasis|LPAC +GARD:0016684,Orphanet,ORPHA:69737,Disorder,Malformation syndrome,Bosley-Salih-Alorainy syndrome, +GARD:0016685,Orphanet,ORPHA:70474,Disorder,Disease,Leigh syndrome with cardiomyopathy,Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency|Cardiomyopathy with myopathy due to COX deficiency|Leigh disease with myopathy +GARD:0016686,Orphanet,ORPHA:71271,Disorder,Malformation syndrome,Split hand-split foot-deafness syndrome,Split hand-split foot-hearing loss syndrome +GARD:0016687,Orphanet,ORPHA:71289,Disorder,Malformation syndrome,Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,ATRUS syndrome +GARD:0016688,Orphanet,ORPHA:71493,Disorder,Disease,Familial thrombocytosis,Familial thrombocythemia|Hereditary thrombocythemia +GARD:0016689,Orphanet,ORPHA:71528,Subtype of disorder,Etiological subtype,Obesity due to prohormone convertase I deficiency,PCI deficiency +GARD:0016690,Orphanet,ORPHA:71529,Subtype of disorder,Etiological subtype,Obesity due to melanocortin 4 receptor deficiency,MC4R deficiency +GARD:0016691,Orphanet,ORPHA:73271,Disorder,Disease,Bleeding diathesis due to a collagen receptor defect, +GARD:0016692,Orphanet,ORPHA:75249,Disorder,Disease,Familial isolated restrictive cardiomyopathy,Familial or idiopathic restrictive cardiomyopathy +GARD:0016693,Orphanet,ORPHA:75326,Disorder,Disease,Retinal arterial tortuosity,Familial isolated retinal arterial tortuosity|Retinal arteriolar tortuosity|Retinal hemorrhage with vascular tortuosity|Tortuosity of retinal arteries +GARD:0016694,Orphanet,ORPHA:75381,Disorder,Disease,Cystoid macular dystrophy,Autosomal dominant cystoid macular edema|DCMD|Familial macular edema +GARD:0016695,Orphanet,ORPHA:75391,Disorder,Disease,Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,Primary immunodeficiency due to MCM4 deficiency +GARD:0016696,Orphanet,ORPHA:79076,Subtype of disorder,Clinical subtype,Juvenile polyposis of infancy,Infantile juvenile polyposis syndrome +GARD:0016697,Orphanet,ORPHA:79094,Disorder,Malformation syndrome,Grange syndrome,Grange occlusive arterial syndrome|Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome +GARD:0016698,Orphanet,ORPHA:79106,Disorder,Malformation syndrome,Eiken syndrome, +GARD:0016699,Orphanet,ORPHA:79118,Disorder,Disease,Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome, +GARD:0016700,Orphanet,ORPHA:79128,Disorder,Disease,Lymphoid interstitial pneumonia,Lymphocytic interstitial pneumonia +GARD:0016701,Orphanet,ORPHA:79134,Disorder,Disease,DEND syndrome,Developmental delay-epilepsy-neonatal diabetes syndrome +GARD:0016702,Orphanet,ORPHA:79135,Disorder,Disease,Episodic ataxia type 3,Episodic ataxia-vertigo-tinnitus-myokymia syndrome +GARD:0016703,Orphanet,ORPHA:79136,Disorder,Disease,Episodic ataxia type 4,PATX|Periodic vestibulocerebellar ataxia +GARD:0016704,Orphanet,ORPHA:79137,Disorder,Disease,Generalized epilepsy-paroxysmal dyskinesia syndrome,GEPD +GARD:0016705,Orphanet,ORPHA:79141,Disorder,Disease,Hereditary painful callosities,Keratosis palmoplantaris nummularis|PPK nummularis|Plamoplantar hyperkeratosis nummularis|Plamoplantar keratoderma nummularis +GARD:0016706,Orphanet,ORPHA:79146,Disorder,Disease,Familial progressive hyperpigmentation,Melanosis diffusa congenita|Melanosis universalis hereditaria|Universal melanosis +GARD:0016707,Orphanet,ORPHA:79151,Disorder,Disease,Acrokeratosis verruciformis of Hopf,AKV of Hopf +GARD:0016708,Orphanet,ORPHA:79154,Disorder,Disease,2-aminoadipic 2-oxoadipic aciduria,Alpha-aminoadipic aciduria +GARD:0016709,Orphanet,ORPHA:79156,Disorder,Disease,Seizures-intellectual disability due to hydroxylysinuria syndrome, +GARD:0016710,Orphanet,ORPHA:79233,Disorder,Disease,Hypoxanthine guanine phosphoribosyltransferase partial deficiency,"HPRT deficiency, grade I|HPRT partial deficiency|HPRT-related gout|HPRT-related hyperuricemia|HPRT1 partial deficiency|Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency|Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I|Kelley-Seegmiller syndrome" +GARD:0016711,Orphanet,ORPHA:79240,Disorder,Disease,Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency,GSD due to liver and muscle phosphorylase kinase deficiency|GSD type 9B|GSD type IXb|Glycogen storage disease type 9B|Glycogen storage disease type IXb|Glycogenosis due to liver and muscle phosphorylase kinase deficiency|Glycogenosis type 9B|Glycogenosis type IXb +GARD:0016712,Orphanet,ORPHA:79244,Subtype of disorder,Clinical subtype,Pyruvate dehydrogenase E2 deficiency,Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency|Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency|Pyruvate dehydrogenase complex component E2 deficiency +GARD:0016713,Orphanet,ORPHA:79302,Disorder,Disease,Congenital bile acid synthesis defect type 3,BASD3|Oxysterol 7-alpha-hydroxylase deficiency +GARD:0016714,Orphanet,ORPHA:79312,Subtype of disorder,Clinical subtype,Vitamin B12-unresponsive methylmalonic acidemia type mut-,Partial deficiency of methylmalonyl-CoA mutase|Vitamin B12-unresponsive methylmalonic aciduria type mut- +GARD:0016715,Orphanet,ORPHA:79346,Disorder,Malformation syndrome,"Chondrodysplasia punctata, tibial-metacarpal type", +GARD:0016716,Orphanet,ORPHA:79347,Disorder,Malformation syndrome,"Chondrodysplasia punctata, Toriello type",Toriello-Higgins-Miller syndrome +GARD:0016717,Orphanet,ORPHA:79350,Subtype of disorder,Etiological subtype,"3-phosphoserine phosphatase deficiency, infantile/juvenile form","PSPH deficiency, infantile/juvenile form" +GARD:0016718,Orphanet,ORPHA:79351,Subtype of disorder,Etiological subtype,"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form","PHGDH deficiency, infantile/juvenile form" +GARD:0016719,Orphanet,ORPHA:79395,Disorder,Disease,Keratoderma hereditarium mutilans with ichthyosis,Camisa disease|Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome|Loricrin keratoderma|Vohwinkel syndrome with ichthyosis +GARD:0016720,Orphanet,ORPHA:79409,Disorder,Disease,Recessive dystrophic epidermolysis bullosa inversa,RDEB inversa|RDEB-I +GARD:0016721,Orphanet,ORPHA:79431,Subtype of disorder,Clinical subtype,Oculocutaneous albinism type 1A,OCA1A|Tyrosinase-negative oculocutaneous albinism +GARD:0016722,Orphanet,ORPHA:79435,Disorder,Disease,Oculocutaneous albinism type 4,OCA4 +GARD:0016723,Orphanet,ORPHA:79457,Disorder,Disease,Maculopapular cutaneous mastocytosis,Urticaria pigmentosa +GARD:0016724,Orphanet,ORPHA:79506,Disorder,Disease,Cholesterol-ester transfer protein deficiency,CEPT deficiency|Familial hyperalphalipoproteinemia +GARD:0016725,Orphanet,ORPHA:79507,Disorder,Disease,Hypotonia-failure to thrive-microcephaly syndrome,LTC4 synthase deficiency|Leukotriene C4 synthase deficiency +GARD:0016726,Orphanet,ORPHA:79643,Disorder,Disease,Autosomal recessive hyperinsulinism due to SUR1 deficiency,Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency +GARD:0016727,Orphanet,ORPHA:79644,Disorder,Disease,Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency +GARD:0016728,Orphanet,ORPHA:83454,Disorder,Malformation syndrome,Glomuvenous malformation,Glomangiomatosis|Hereditary multiple glomangiomas|Multiple glomus tumors|VMGLOM|Venous malformations with glomus cells +GARD:0016729,Orphanet,ORPHA:83620,Disorder,Disease,Enteric anendocrinosis,Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells +GARD:0016730,Orphanet,ORPHA:84081,Disorder,Disease,Senior-Boichis syndrome,Boichis disease|Nephronophthisis-hepatic fibrosis syndrome +GARD:0016731,Orphanet,ORPHA:84093,Disorder,Disease,Hereditary thermosensitive neuropathy, +GARD:0016732,Orphanet,ORPHA:84132,Disorder,Disease,Desmin-related myopathy with Mallory body-like inclusions,Early-onset desmin-related myopathy +GARD:0016733,Orphanet,ORPHA:85112,Disorder,Disease,Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome +GARD:0016734,Orphanet,ORPHA:85128,Disorder,Disease,Bothnia retinal dystrophy,Västerbotten dystrophy +GARD:0016735,Orphanet,ORPHA:85169,Disorder,Malformation syndrome,Familial digital arthropathy-brachydactyly, +GARD:0016736,Orphanet,ORPHA:85172,Disorder,Disease,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type", +GARD:0016737,Orphanet,ORPHA:85184,Disorder,Malformation syndrome,"Craniometadiaphyseal dysplasia, wormian bone type", +GARD:0016738,Orphanet,ORPHA:85188,Disorder,Malformation syndrome,"Metaphyseal dysplasia, Braun-Tinschert type", +GARD:0016739,Orphanet,ORPHA:85192,Disorder,Malformation syndrome,Calvarial doughnut lesions-bone fragility syndrome,Familial doughnut lesions of skull +GARD:0016740,Orphanet,ORPHA:85194,Disorder,Malformation syndrome,Spondylo-ocular syndrome, +GARD:0016741,Orphanet,ORPHA:85197,Disorder,Disease,Genochondromatosis type 1, +GARD:0016742,Orphanet,ORPHA:85276,Disorder,Malformation syndrome,"X-linked intellectual disability, Armfield type",Armfield syndrome +GARD:0016743,Orphanet,ORPHA:85277,Disorder,Malformation syndrome,"X-linked intellectual disability, Cantagrel type", +GARD:0016744,Orphanet,ORPHA:85279,Disorder,Malformation syndrome,KDM5C-related syndromic X-linked intellectual disability, +GARD:0016745,Orphanet,ORPHA:85280,Disorder,Malformation syndrome,X-linked intellectual disability-cubitus valgus-dysmorphism syndrome, +GARD:0016746,Orphanet,ORPHA:85284,Disorder,Malformation syndrome,BRESEK syndrome,BRESHECK syndrome +GARD:0016747,Orphanet,ORPHA:85290,Disorder,Malformation syndrome,"X-linked intellectual disability, Wilson type", +GARD:0016748,Orphanet,ORPHA:85294,Disorder,Disease,X-linked epilepsy-learning disabilities-behavior disorders syndrome, +GARD:0016749,Orphanet,ORPHA:85295,Subtype of disorder,Clinical subtype,"HSD10 disease, atypical type","HSD10 deficiency, atypical type|Syndromic X-linked intellectual disability type 10|X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" +GARD:0016750,Orphanet,ORPHA:85321,Disorder,Malformation syndrome,"Deafness-intellectual disability syndrome, Martin-Probst type","Hearing loss-intellectual disability syndrome, Martin-Probst type|Martin-Probst syndrome|X-linked deafness-intellectual disability syndrome syndrome|X-linked hearing loss-intellectual disability syndrome syndrome" +GARD:0016751,Orphanet,ORPHA:85324,Disorder,Malformation syndrome,"X-linked intellectual disability, Shrimpton type",MRXS9 +GARD:0016752,Orphanet,ORPHA:85329,Disorder,Malformation syndrome,X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome, +GARD:0016753,Orphanet,ORPHA:85335,Disorder,Malformation syndrome,Fried syndrome, +GARD:0016754,Orphanet,ORPHA:85447,Disorder,Disease,ATTRV30M amyloidosis,"ATTRV30M-related amyloidosis|Familial amyloid polyneuropathy type I|Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type|TTR amyloid neuropathy|Transthyretin amyloid neuropathy|Transthyretin amyloid polyneuropathy" +GARD:0016755,Orphanet,ORPHA:85451,Disorder,Disease,ATTRV122I amyloidosis,ATTR cardiomyopathy|ATTRV122I-related amyloidosis|TTR-related amyloid cardiomyopathy|TTR-related cardiac amyloidosis|Transthyretin amyloid cardiopathy|Transthyretin-related familial amyloid cardiomyopathy +GARD:0016756,Orphanet,ORPHA:85453,Disorder,Disease,X-linked reticulate pigmentary disorder,Familial cutaneous amyloidosis|PDR|Partington disease|X-linked cutaneous amyloidosis|XLPDR +GARD:0016757,Orphanet,ORPHA:86813,Disorder,Disease,Helicoid peripapillary chorioretinal degeneration,Atrophia areata|SCRA|Sveinsson chorioretinal atrophy +GARD:0016758,Orphanet,ORPHA:86814,Disorder,Disease,Benign adult familial myoclonic epilepsy,ADCME|Autosomal dominant cortical myoclonus and epilepsy|BAFME|Benign adult familial myoclonus epilepsy|FAME|FCMTE|Familial adult myoclonic epilepsy|Familial cortical myoclonic tremor and epilepsy +GARD:0016759,Orphanet,ORPHA:86815,Disorder,Disease,Aplasia of lacrimal and salivary glands,ALSG|Congenital absence of lacrimal puncta and salivary glands +GARD:0016760,Orphanet,ORPHA:86817,Disorder,Disease,Hemolytic anemia due to adenylate kinase deficiency, +GARD:0016761,Orphanet,ORPHA:86818,Disorder,Disease,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,AMME complex|AMME syndrome|ATS-MR +GARD:0016762,Orphanet,ORPHA:86819,Disorder,Disease,Atrichia with papular lesions,Papular atrichia +GARD:0016763,Orphanet,ORPHA:86822,Disorder,Malformation syndrome,Lissencephaly type 3-metacarpal bone dysplasia syndrome, +GARD:0016764,Orphanet,ORPHA:86830,Disorder,Disease,"Chronic myeloproliferative disease, unclassifiable",CMPD-U|Undifferentiated myeloproliferative disease +GARD:0016765,Orphanet,ORPHA:86900,Disorder,Disease,Interdigitating dendritic cell sarcoma,Interdigitating cell sarcoma|Reticulum cell sarcoma +GARD:0016766,Orphanet,ORPHA:86919,Disorder,Disease,Keratosis palmaris et plantaris-clinodactyly syndrome,Palmoplantar keratoderma-clinodactyly syndrome +GARD:0016767,Orphanet,ORPHA:86923,Disorder,Disease,"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type","Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type|PPK, Gamborg-Nielsen type" +GARD:0016768,Orphanet,ORPHA:88629,Disorder,Disease,Tritanopia,Blue colour blindness|Congenital tritanopia|Tritan colour blindness +GARD:0016769,Orphanet,ORPHA:88630,Disorder,Malformation syndrome,Terminal osseous dysplasia-pigmentary defects syndrome, +GARD:0016770,Orphanet,ORPHA:88635,Disorder,Disease,Vacuolar myopathy with sarcoplasmic reticulum protein aggregates,Myopathy due to calsequestrin and SERCA1 protein overload|Vacuolar aggregate myopathy +GARD:0016771,Orphanet,ORPHA:88637,Subtype of disorder,Clinical subtype,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,4H syndrome +GARD:0016772,Orphanet,ORPHA:88659,Disorder,Disease,Autosomal dominant progressive nephropathy with hypertension, +GARD:0016773,Orphanet,ORPHA:88673,Group of disorders,Clinical group,Hepatocellular carcinoma,HCC +GARD:0016774,Orphanet,ORPHA:88917,Subtype of disorder,Clinical subtype,X-linked Alport syndrome, +GARD:0016775,Orphanet,ORPHA:88938,Subtype of disorder,Etiological subtype,Pseudohypoaldosteronism type 2A,PHA2A +GARD:0016776,Orphanet,ORPHA:88939,Subtype of disorder,Etiological subtype,Pseudohypoaldosteronism type 2B,PHA2B +GARD:0016777,Orphanet,ORPHA:88940,Subtype of disorder,Etiological subtype,Pseudohypoaldosteronism type 2C,PHA2C +GARD:0016778,Orphanet,ORPHA:89838,Disorder,Disease,Autosomal recessive generalized epidermolysis bullosa simplex,Autosomal recessive generalized EBS +GARD:0016779,Orphanet,ORPHA:89843,Disorder,Disease,Dystrophic epidermolysis bullosa pruriginosa,DEB pruriginosa|DEB-Pr|Pruriginous dystrophic epidermolysis bullosa +GARD:0016780,Orphanet,ORPHA:89844,Subtype of disorder,Clinical subtype,"Lissencephaly syndrome, Norman-Roberts type",Microlissencephaly type A +GARD:0016781,Orphanet,ORPHA:89937,Disorder,Disease,Autosomal dominant hypophosphatemic rickets,ADHR|Autosomal dominant hypophosphatemia +GARD:0016782,Orphanet,ORPHA:90001,Disorder,Disease,X-linked cone dysfunction syndrome with myopia,Bornholm eye disease +GARD:0016783,Orphanet,ORPHA:90023,Disorder,Disease,Primary immunodeficiency syndrome due to LAMTOR2 deficiency,Primary immunodeficiency syndrome due to p14 deficiency|Primary immunodeficiency syndrome with short stature +GARD:0016784,Orphanet,ORPHA:90030,Disorder,Disease,Hemolytic anemia due to glutathione reductase deficiency, +GARD:0016785,Orphanet,ORPHA:90044,Disorder,Disease,Familial pseudohyperkalemia, +GARD:0016786,Orphanet,ORPHA:90103,Disorder,Malformation syndrome,Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome,"CMT-deafness-intellectual disability syndrome|Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome|Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers|Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers" +GARD:0016787,Orphanet,ORPHA:90120,Disorder,Disease,Hereditary motor and sensory neuropathy type 6,CMT6|Charcot-Marie-Tooth disease type 6|HMSN 6|HMSN VI|Hereditary motor and sensory neuropathy type VI|Peripheral neuropathy and optic atrophy +GARD:0016788,Orphanet,ORPHA:90308,Disorder,Disease,Klippel-Trénaunay syndrome, +GARD:0016789,Orphanet,ORPHA:90368,Disorder,Disease,Hypotrichosis simplex of the scalp,Hereditary hypotrichosis simplex of the scalp +GARD:0016790,Orphanet,ORPHA:90625,Subtype of disorder,Etiological subtype,X-linked non-syndromic sensorineural deafness type DFN,X-linked isolated neurosensory deafness type DFN|X-linked isolated neurosensory hearing loss type DFN|X-linked isolated sensorineural deafness type DFN|X-linked isolated sensorineural hearing loss type DFN|X-linked non-syndromic neurosensory deafness type DFN|X-linked non-syndromic neurosensory hearing loss type DFN|X-linked non-syndromic sensorineural hearing loss type DFN +GARD:0016791,Orphanet,ORPHA:90635,Subtype of disorder,Etiological subtype,Autosomal dominant non-syndromic sensorineural deafness type DFNA,Autosomal dominant isolated neurosensory deafness type DFNA|Autosomal dominant isolated neurosensory hearing loss type DFNA|Autosomal dominant isolated sensorineural deafness type DFNA|Autosomal dominant isolated sensorineural hearing loss type DFNA|Autosomal dominant non-syndromic neurosensory deafness type DFNA|Autosomal dominant non-syndromic neurosensory hearing loss type DFNA|Autosomal dominant non-syndromic sensorineural hearing loss type DFNA +GARD:0016792,Orphanet,ORPHA:90641,Subtype of disorder,Etiological subtype,Mitochondrial non-syndromic sensorineural deafness,Isolated mitochondrial neurosensory deafness|Isolated mitochondrial neurosensory hearing loss|Isolated mitochondrial sensorineural deafness|Isolated mitochondrial sensorineural hearing loss|Mitochondrial non-syndromic neurosensory deafness|Mitochondrial non-syndromic neurosensory hearing loss|Mitochondrial non-syndromic sensorineural hearing loss +GARD:0016793,Orphanet,ORPHA:90673,Disorder,Disease,Hypothyroidism due to TSH receptor mutations, +GARD:0016794,Orphanet,ORPHA:90796,Disorder,Disease,"46,XY disorder of sex development due to isolated 17,20-lyase deficiency", +GARD:0016795,Orphanet,ORPHA:91130,Disorder,Disease,Cardiomyopathy-hypotonia-lactic acidosis syndrome, +GARD:0016796,Orphanet,ORPHA:91135,Disorder,Disease,Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,PXE-like syndrome|Pseudoxanthoma elasticum-like syndrome +GARD:0016797,Orphanet,ORPHA:91396,Disorder,Morphological anomaly,Isolated cryptophthalmia, +GARD:0016798,Orphanet,ORPHA:91411,Disorder,Disease,Congenital ptosis, +GARD:0016799,Orphanet,ORPHA:91416,Disorder,Disease,Isolated congenital alacrima, +GARD:0016800,Orphanet,ORPHA:91490,Disorder,Morphological anomaly,Isolated congenital sclerocornea, +GARD:0016801,Orphanet,ORPHA:91492,Disorder,Disease,Early-onset non-syndromic cataract, +GARD:0016802,Orphanet,ORPHA:91494,Disorder,Malformation syndrome,Macular coloboma-cleft palate-hallux valgus syndrome, +GARD:0016803,Orphanet,ORPHA:91495,Disorder,Disease,Persistent hyperplastic primary vitreous,Congenital retinal detachment|NCRNA disease|Non-syndromic congenital retinal non-attachment|PFVS|PHPV|Persistent fetal vasculature syndrome +GARD:0016804,Orphanet,ORPHA:93100,Subtype of disorder,Clinical subtype,"Renal agenesis, unilateral", +GARD:0016805,Orphanet,ORPHA:93160,Disorder,Disease,Hypocalcemic vitamin D-resistant rickets,HVDRR|Hereditary vitamin D-resistant rickets|VDDR II|VDRR II|Vitamin D-dependent rickets type II|Vitamin D-resistant rickets type II +GARD:0016806,Orphanet,ORPHA:93256,Disorder,Malformation syndrome,Fragile X-associated tremor/ataxia syndrome,FXTAS syndrome +GARD:0016807,Orphanet,ORPHA:93258,Subtype of disorder,Clinical subtype,Pfeiffer syndrome type 1,Classic Pfeiffer syndrome +GARD:0016808,Orphanet,ORPHA:93259,Subtype of disorder,Clinical subtype,Pfeiffer syndrome type 2, +GARD:0016809,Orphanet,ORPHA:93260,Subtype of disorder,Clinical subtype,Pfeiffer syndrome type 3, +GARD:0016810,Orphanet,ORPHA:93262,Disorder,Malformation syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Crouzon-dermoskeletal syndrome +GARD:0016811,Orphanet,ORPHA:93267,Disorder,Malformation syndrome,Cloverleaf skull-multiple congenital anomalies syndrome, +GARD:0016812,Orphanet,ORPHA:93279,Disorder,Disease,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis, +GARD:0016813,Orphanet,ORPHA:93282,Disorder,Disease,"Spondyloepimetaphyseal dysplasia, PAPSS2 type","Spondyloepimetaphyseal dysplasia, Pakistani type" +GARD:0016814,Orphanet,ORPHA:93283,Disorder,Disease,"Spondyloepiphyseal dysplasia, Kimberley type", +GARD:0016815,Orphanet,ORPHA:93297,Subtype of disorder,Clinical subtype,Hypochondrogenesis, +GARD:0016816,Orphanet,ORPHA:93302,Disorder,Malformation syndrome,"Brachyolmia, Maroteaux type",Brachyolmia type 2 +GARD:0016817,Orphanet,ORPHA:93334,Disorder,Morphological anomaly,Postaxial polydactyly type A, +GARD:0016818,Orphanet,ORPHA:93335,Disorder,Morphological anomaly,Postaxial polydactyly type B, +GARD:0016819,Orphanet,ORPHA:93351,Disorder,Disease,"Spondyloepimetaphyseal dysplasia, Irapa type","SEMD, Irapa type" +GARD:0016820,Orphanet,ORPHA:93398,Disorder,Disease,Genochondromatosis type 2, +GARD:0016821,Orphanet,ORPHA:93409,Disorder,Malformation syndrome,"Brachydactyly-syndactyly, Zhao type", +GARD:0016822,Orphanet,ORPHA:93426,Group of disorders,Category,Ciliopathies with major skeletal involvement,SRP|Short rib dysplasia +GARD:0016823,Orphanet,ORPHA:93581,Subtype of disorder,Etiological subtype,Atypical hemolytic uremic syndrome with anti-factor H antibodies,Atypical HUS with anti-factor H antibodies|aHUS with anti-factor H antibodies|aHUS with neutralizing autoantibodies against factor H +GARD:0016824,Orphanet,ORPHA:93589,Subtype of disorder,Clinical subtype,Late-onset nephronophthisis, +GARD:0016825,Orphanet,ORPHA:93591,Subtype of disorder,Clinical subtype,Infantile nephronophthisis,Autosomal recessive infantile NPHP|Autosomal recessive infantile nephronophthisis +GARD:0016826,Orphanet,ORPHA:93607,Subtype of disorder,Clinical subtype,Autosomal recessive proximal renal tubular acidosis,AR pRTA|Proximal renal tubular acidosis with ocular abnormalities and intellectual disability +GARD:0016827,Orphanet,ORPHA:93612,Subtype of disorder,Etiological subtype,Cystinuria type A, +GARD:0016828,Orphanet,ORPHA:93613,Subtype of disorder,Etiological subtype,Cystinuria type B, +GARD:0016829,Orphanet,ORPHA:93616,Subtype of disorder,Clinical subtype,Hemoglobin H disease,Alpha-thalassemia intermedia|HbH disease +GARD:0016830,Orphanet,ORPHA:93924,Subtype of disorder,Clinical subtype,Lobar holoprosencephaly, +GARD:0016831,Orphanet,ORPHA:93925,Subtype of disorder,Clinical subtype,Alobar holoprosencephaly, +GARD:0016832,Orphanet,ORPHA:93926,Subtype of disorder,Clinical subtype,Midline interhemispheric variant of holoprosencephaly,MIH|MIH type HPE|MIHF|MIHV|Middle interhemispheric fusion variant|Middle interhemispheric variant of holoprosencephaly|Syntelencephaly +GARD:0016833,Orphanet,ORPHA:93940,Subtype of disorder,Clinical subtype,Laryngotracheoesophageal cleft type 3,LTEC III|LTEC3|Laryngo-tracheo-esophageal cleft type 3 +GARD:0016834,Orphanet,ORPHA:93952,Disorder,Disease,"X-linked intellectual disability, Hedera type",MRXSH +GARD:0016835,Orphanet,ORPHA:93976,Disorder,Morphological anomaly,Anotia, +GARD:0016836,Orphanet,ORPHA:94122,Disorder,Disease,"Cerebellar ataxia, Cayman type",Cayman ataxia +GARD:0016837,Orphanet,ORPHA:94150,Subtype of disorder,Clinical subtype,Anonychia congenita totalis, +GARD:0016838,Orphanet,ORPHA:95232,Disorder,Disease,Lissencephaly due to LIS1 mutation,PAFAH1B1-related lissencephaly +GARD:0016839,Orphanet,ORPHA:95700,Disorder,Disease,Familial adrenal hypoplasia with absent pituitary luteinizing hormone,"Familial adrenal hypoplasia with absent pituitary LH|Familial adrenal hypoplasia, miniature type" +GARD:0016840,Orphanet,ORPHA:95706,Disorder,Morphological anomaly,Non-syndromic posterior hypospadias,"Hypospadias, severe form|Perineal, scrotal or penoscrotal hypospadias" +GARD:0016841,Orphanet,ORPHA:95712,Disorder,Morphological anomaly,Thyroid ectopia, +GARD:0016842,Orphanet,ORPHA:95713,Disorder,Morphological anomaly,Athyreosis, +GARD:0016843,Orphanet,ORPHA:95716,Disorder,Disease,Familial thyroid dyshormonogenesis,Thyroid dyshormonogenesis +GARD:0016844,Orphanet,ORPHA:95719,Disorder,Morphological anomaly,Thyroid hemiagenesis, +GARD:0016845,Orphanet,ORPHA:96125,Disorder,Malformation syndrome,Distal monosomy 6p,6p subtelomeric deletion syndrome|6p25 microdeletion syndrome|Distal deletion 6p|Monosomy 6p25 +GARD:0016846,Orphanet,ORPHA:96147,Subtype of disorder,Etiological subtype,Kleefstra syndrome due to 9q34 microdeletion,9q subtelomeric deletion syndrome|9qSTDS|Kleefstra syndrome due to 9q subtelomeric deletion|Kleefstra syndrome due to del(9)(q34)|Kleefstra syndrome due to monosomy 9q34 +GARD:0016847,Orphanet,ORPHA:96168,Disorder,Malformation syndrome,Monosomy 13q34,Del(13)(q34)|Distal deletion 13q34|Subtelomeric deletion 13q34 +GARD:0016848,Orphanet,ORPHA:96184,Subtype of disorder,Etiological subtype,Temple syndrome due to maternal uniparental disomy of chromosome 14,UPD(14)mat +GARD:0016849,Orphanet,ORPHA:96186,Disorder,Malformation syndrome,Maternal uniparental disomy of chromosome 20,Maternal UPD(20)|UPD(20)mat +GARD:0016850,Orphanet,ORPHA:96256,Group of disorders,Clinical group,Somatotropic adenoma,Somatotropinoma +GARD:0016851,Orphanet,ORPHA:96265,Subtype of disorder,Clinical subtype,Leydig cell hypoplasia due to complete LH resistance,"46,XY DSD due to complete LH receptor inactivation|46,XY DSD due to complete LH resistance|46,XY DSD due to complete luteinizing hormone receptor inactivation|46,XY DSD due to complete luteinizing hormone resistance|46,XY disorder of sex development due to complete LH receptor inactivation|46,XY disorder of sex development due to complete LH resistance|46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation|46,XY disorder of sex development due to complete luteinizing hormone resistance|Leydig cell hypoplasia due to complete LH receptor inactivation|Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation|Leydig cell hypoplasia due to complete luteinizing hormone resistance" +GARD:0016852,Orphanet,ORPHA:96266,Subtype of disorder,Clinical subtype,Leydig cell hypoplasia due to partial LH resistance,"46,XY DSD due to partial LH receptor inactivation|46,XY DSD due to partial LH resistance|46,XY DSD due to partial luteinizing hormone resistance|46,XY disorder of sex developement due to partial LH receptor inactivation|46,XY disorder of sex developement due to partial LH resistance|46,XY disorder of sex developement due to partial luteinizing hormone resistance|Leydig cell hypoplasia due to partial LH receptor inactivation|Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation|Leydig cell hypoplasia due to partial luteinizing hormone resistance" +GARD:0016853,Orphanet,ORPHA:97290,Disorder,Disease,Familial papillary thyroid carcinoma with renal papillary neoplasia,PTC-RCC +GARD:0016854,Orphanet,ORPHA:97369,Subtype of disorder,Etiological subtype,Renal tubular dysgenesis of genetic origin, +GARD:0016855,Orphanet,ORPHA:98291,Group of disorders,Category,Lymphoproliferative disease associated with primary immune disease, +GARD:0016856,Orphanet,ORPHA:98434,Disorder,Disease,Hereditary combined deficiency of vitamin K-dependent clotting factors,"Hereditary combined deficiency of factors II, VII, IX and X" +GARD:0016857,Orphanet,ORPHA:98553,Group of disorders,Category,Developmental defect of the eye, +GARD:0016858,Orphanet,ORPHA:98606,Disorder,Malformation syndrome,Syndromic orbital border hypoplasia,Urrets-Zavalia syndrome +GARD:0016859,Orphanet,ORPHA:98619,Disorder,Disease,Rare isolated myopia, +GARD:0016860,Orphanet,ORPHA:98676,Disorder,Disease,Autosomal recessive isolated optic atrophy,Autosomal recessive non-syndromic optic atrophy +GARD:0016861,Orphanet,ORPHA:98754,Subtype of disorder,Etiological subtype,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,UPD(15)mat +GARD:0016862,Orphanet,ORPHA:98791,Disorder,Malformation syndrome,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,"ATR syndrome linked to chromosome 16|ATR syndrome, deletion type|ATR-16 syndrome|Alpha thalassemia-intellectual disability syndrome, deletion type" +GARD:0016863,Orphanet,ORPHA:98835,Disorder,Disease,Acute undifferentiated leukemia,"Acute myeloid leukemia, minimal differentiation, FAB M0" +GARD:0016864,Orphanet,ORPHA:98852,Disorder,Disease,Desquamative interstitial pneumonia, +GARD:0016865,Orphanet,ORPHA:98853,Subtype of disorder,Etiological subtype,Autosomal dominant Emery-Dreifuss muscular dystrophy,EDMD2 +GARD:0016866,Orphanet,ORPHA:98855,Subtype of disorder,Etiological subtype,Autosomal recessive Emery-Dreifuss muscular dystrophy,EDMD3 +GARD:0016867,Orphanet,ORPHA:98868,Disorder,Disease,Southeast Asian ovalocytosis,Hereditary ovalocytosis|Melanesian elliptocytosis|Melanesian ovalocytosis|SAO|Stomatocytic elliptocytosis +GARD:0016868,Orphanet,ORPHA:98886,Subtype of disorder,Etiological subtype,Bleeding diathesis due to integrin alpha2-beta1 deficiency, +GARD:0016869,Orphanet,ORPHA:98904,Disorder,Disease,Congenital myopathy with excess of thin filaments,Actin myopathy +GARD:0016870,Orphanet,ORPHA:98909,Disorder,Disease,Desminopathy,Desmin-related myofibrillar myopathy +GARD:0016871,Orphanet,ORPHA:98911,Disorder,Disease,Distal myotilinopathy, +GARD:0016872,Orphanet,ORPHA:98915,Subtype of disorder,Etiological subtype,Synaptic congenital myasthenic syndromes, +GARD:0016873,Orphanet,ORPHA:98916,Disorder,Disease,Acute inflammatory demyelinating polyradiculoneuropathy,"AIDP|Acute idiopathic demyelinating polyneuropathy|Acute inflammatory polyneuropathy|GBS, acute inflammatory demyelinating polyradiculoneuropathic form|Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form" +GARD:0016874,Orphanet,ORPHA:98934,Disorder,Disease,Huntington disease-like 2,HDL2 +GARD:0016875,Orphanet,ORPHA:98942,Disorder,Morphological anomaly,Coloboma of choroid and retina, +GARD:0016876,Orphanet,ORPHA:98949,Subtype of disorder,Clinical subtype,Complete cryptophthalmia, +GARD:0016877,Orphanet,ORPHA:98955,Disorder,Disease,Lisch epithelial corneal dystrophy,Band-shaped and whorled microcystic dystrophy of the corneal epithelium|LECD +GARD:0016878,Orphanet,ORPHA:98959,Disorder,Disease,Subepithelial mucinous corneal dystrophy,SMCD +GARD:0016879,Orphanet,ORPHA:98970,Disorder,Disease,Fleck corneal dystrophy,FCD|François-Neetens speckled corneal dystrophy +GARD:0016880,Orphanet,ORPHA:98971,Disorder,Disease,Posterior amorphous corneal dystrophy,PACD|Posterior amorphous stromal dystrophy +GARD:0016881,Orphanet,ORPHA:98972,Disorder,Disease,Central cloudy dystrophy of François,CCDF|Central cloudy corneal dystrophy of François +GARD:0016882,Orphanet,ORPHA:98973,Disorder,Disease,Posterior polymorphous corneal dystrophy,PPCD|Posterior polymorphous dystrophy|Schlichting dystrophy +GARD:0016883,Orphanet,ORPHA:98977,Disorder,Disease,Juvenile glaucoma, +GARD:0016884,Orphanet,ORPHA:98984,Subtype of disorder,Clinical subtype,Pulverulent cataract,Coppock-like cataract|Dusty cataract +GARD:0016885,Orphanet,ORPHA:98985,Subtype of disorder,Clinical subtype,Early-onset sutural cataract,Early-onset cataract with Y-shaped suture opacities +GARD:0016886,Orphanet,ORPHA:98990,Subtype of disorder,Clinical subtype,Coralliform cataract, +GARD:0016887,Orphanet,ORPHA:98991,Subtype of disorder,Clinical subtype,Early-onset nuclear cataract, +GARD:0016888,Orphanet,ORPHA:98992,Subtype of disorder,Clinical subtype,Early-onset partial cataract, +GARD:0016889,Orphanet,ORPHA:98993,Subtype of disorder,Clinical subtype,Early-onset posterior polar cataract, +GARD:0016890,Orphanet,ORPHA:99001,Disorder,Disease,Butterfly-shaped pigment dystrophy,Butterfly-shaped pattern dystrophy|Butterfly-shaped pigmentary macular dystrophy +GARD:0016891,Orphanet,ORPHA:99002,Disorder,Disease,Reticular dystrophy of the retinal pigment epithelium, +GARD:0016892,Orphanet,ORPHA:99051,Subtype of disorder,Clinical subtype,Discrete fixed membranous subaortic stenosis, +GARD:0016893,Orphanet,ORPHA:99067,Subtype of disorder,Clinical subtype,Complete atrioventricular septal defect with ventricular hypoplasia,CAVC with ventricular hypoplasia|Complete AVSD with ventricular hypoplasia|Complete atrioventricular canal defect with ventricular hypoplasia|Complete atrioventricular septal defect with ventricular imbalance|Unbalanced complete atrioventricular canal +GARD:0016894,Orphanet,ORPHA:99068,Subtype of disorder,Clinical subtype,Complete atrioventricular septal defect-tetralogy of Fallot,CAVC-tetralogy of Fallot|Complete AVSD-tetralogy of Fallot|Complete atrioventricular canal defect-tetralogy of Fallot +GARD:0016895,Orphanet,ORPHA:99092,Disorder,Morphological anomaly,Interventricular septum aneurysm, +GARD:0016896,Orphanet,ORPHA:99125,Disorder,Morphological anomaly,Congenital total pulmonary venous return anomaly, +GARD:0016897,Orphanet,ORPHA:99135,Disorder,Disease,6-phosphogluconate dehydrogenase deficiency, +GARD:0016898,Orphanet,ORPHA:99141,Disorder,Malformation syndrome,Lymphedema-posterior choanal atresia syndrome, +GARD:0016899,Orphanet,ORPHA:99177,Disorder,Morphological anomaly,Isolated distichiasis, +GARD:0016900,Orphanet,ORPHA:99179,Disorder,Malformation syndrome,Kandori fleck retina, +GARD:0016901,Orphanet,ORPHA:99361,Disorder,Disease,Familial medullary thyroid carcinoma,Familial MTC +GARD:0016902,Orphanet,ORPHA:99646,Disorder,Disease,Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, +GARD:0016903,Orphanet,ORPHA:99672,Disorder,Malformation syndrome,Fried's tooth and nail syndrome, +GARD:0016904,Orphanet,ORPHA:99734,Disorder,Disease,Myotonia fluctuans,Exercise-induced delayed-onset myotonia|Fluctuating myotonia +GARD:0016905,Orphanet,ORPHA:99735,Disorder,Disease,Myotonia permanens, +GARD:0016906,Orphanet,ORPHA:99736,Disorder,Disease,Acetazolamide-responsive myotonia,ACZ-responsive congenital myotonia|ACZ-responsive myotonia|Acetazolamide-responsive congenital myotonia|Myotonia-painful contractions syndrome|Painful congenital myotonia|Painful myotonia +GARD:0016907,Orphanet,ORPHA:99772,Disorder,Morphological anomaly,Cleft velum,Cleft soft palate|Cleft velum palatinum +GARD:0016908,Orphanet,ORPHA:99798,Disorder,Morphological anomaly,Oligodontia,Selective tooth agenesis +GARD:0016909,Orphanet,ORPHA:99803,Disorder,Malformation syndrome,Haddad syndrome,Congenital central alveolar hypoventilation-Hirschsprung disease syndrome|Ondine-Hirschsprung disease|Ondine-Hirschsprung syndrome +GARD:0016910,Orphanet,ORPHA:99806,Disorder,Malformation syndrome,Oculootodental syndrome,OOD +GARD:0016911,Orphanet,ORPHA:99807,Disorder,Disease,PEHO-like syndrome, +GARD:0016912,Orphanet,ORPHA:99818,Subtype of disorder,Clinical subtype,Turcot syndrome with polyposis, +GARD:0016913,Orphanet,ORPHA:99819,Disorder,Disease,Familial gestational hyperthyroidism, +GARD:0016914,Orphanet,ORPHA:99832,Disorder,Disease,Resistance to thyrotropin-releasing hormone syndrome,Central hypothyroidism due to TRH receptor deficiency|TRH resistance syndrome +GARD:0016915,Orphanet,ORPHA:99844,Subtype of disorder,Clinical subtype,Leukocyte adhesion deficiency type III,LAD-1 variant|LAD-III|Leukocyte adhesion deficiency-1 variant +GARD:0016916,Orphanet,ORPHA:99845,Disorder,Disease,Genetic recurrent myoglobinuria, +GARD:0016917,Orphanet,ORPHA:99846,Disorder,Disease,Autosomal dominant myoglobinuria, +GARD:0016918,Orphanet,ORPHA:99853,Subtype of disorder,Clinical subtype,Ovarioleukodystrophy, +GARD:0016919,Orphanet,ORPHA:99854,Subtype of disorder,Clinical subtype,Cree leukoencephalopathy, +GARD:0016920,Orphanet,ORPHA:99860,Disorder,Disease,Precursor B-cell acute lymphoblastic leukemia,B-ALL|Precursor B-cell acute lymphoblastic leukemia/lymphoma|Precursor B-cell acute lymphocytic leukemia|Precursor B-cell acute lymphocytic leukemia/lymphoma +GARD:0016921,Orphanet,ORPHA:99865,Disorder,Disease,Spermatocytic seminoma, +GARD:0016922,Orphanet,ORPHA:99867,Disorder,Disease,Thymoma,Primary thymic epithelial neoplasm|Primary thymic epithelial tumor +GARD:0016923,Orphanet,ORPHA:99879,Disorder,Disease,Familial isolated hyperparathyroidism,FIHPT +GARD:0016924,Orphanet,ORPHA:99908,Disorder,Disease,Pigeon-breeder lung disease,Bird fancier lung +GARD:0016925,Orphanet,ORPHA:99947,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2A2,CMT2A2 +GARD:0016926,Orphanet,ORPHA:99966,Subtype of disorder,Clinical subtype,Atypical teratoid rhabdoid tumor,ATRT +GARD:0016927,Orphanet,ORPHA:99976,Disorder,Disease,Adenocarcinoma of the esophagus,Esophageal adenocarcinoma +GARD:0016928,Orphanet,ORPHA:99995,Subtype of disorder,Clinical subtype,Complex regional pain syndrome type 1,Algodystrophy|Reflex sympathetic dystrophy +GARD:0016929,Orphanet,ORPHA:100006,Subtype of disorder,Clinical subtype,"ABeta amyloidosis, Dutch type","ABetaE22Q amyloidosis|HCHWA, Dutch type|HCHWA-D|Hereditary cerebral hemorrhage with amyloidosis, Dutch type" +GARD:0016930,Orphanet,ORPHA:100008,Subtype of disorder,Clinical subtype,ACys amyloidosis,"CST3-related amyloidosis|Cystatin amyloidosis|HCHWA, Icelandic type|Hereditary cerebral hemorrhage with amyloidosis, Icelandic type|Hereditary cystatin C amyloid angiopathy" +GARD:0016931,Orphanet,ORPHA:100032,Subtype of disorder,Clinical subtype,Hypocalcified amelogenesis imperfecta,Amelogenesis imperfecta type 3 +GARD:0016932,Orphanet,ORPHA:100034,Subtype of disorder,Clinical subtype,Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,Amelogenesis imperfecta type 4 +GARD:0016933,Orphanet,ORPHA:100050,Subtype of disorder,Etiological subtype,Hereditary angioedema type 1,HAE 1|HAE-I|Hereditary angioneurotic edema type 1 +GARD:0016934,Orphanet,ORPHA:100051,Subtype of disorder,Etiological subtype,Hereditary angioedema type 2,HAE 2|HAE-II|Hereditary angioneurotic edema type 2 +GARD:0016935,Orphanet,ORPHA:100054,Subtype of disorder,Clinical subtype,F12-related hereditary angioedema with normal C1Inh,F12-related HAE with normal C1 inhibitor|HAE 3|HAE-III|Hereditary angioedema type 3|Hereditary angioneurotic edema type 3|Inherited estrogen-associated angioedema|Inherited estrogen-associated angioneurotic edema|Inherited estrogen-dependent angioedema|Inherited estrogen-dependent angioneurotic edema +GARD:0016936,Orphanet,ORPHA:100057,Disorder,Disease,Renin-angiotensin-aldosterone system-blocker-induced angioedema,ACE inhibitor-related acquired angioedema|ACEI-related acquired angioedema|Acquired angioedema with normal C1 inhibitor|Acquired angioedema with normal C1INH|RAAS-blocker-induced angioedema|RAAS-blocker-induced angioneurotic edema|RAE|Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema +GARD:0016937,Orphanet,ORPHA:100924,Disorder,Disease,Porphyria due to ALA dehydratase deficiency,ALAD porphyria|Porphyria due to ALAD deficiency|Porphyria due to delta-aminolevulinate dehydratase deficiency|Porphyria of Doss +GARD:0016938,Orphanet,ORPHA:100976,Disorder,Disease,Bathing suit ichthyosis,BSI +GARD:0016939,Orphanet,ORPHA:101001,Disorder,Disease,Autosomal recessive spastic paraplegia type 21,Mast syndrome|SPG21 +GARD:0016940,Orphanet,ORPHA:101007,Disorder,Disease,Autosomal recessive spastic paraplegia type 27,SPG27 +GARD:0016941,Orphanet,ORPHA:101008,Disorder,Disease,Autosomal recessive spastic paraplegia type 28,SPG28 +GARD:0016942,Orphanet,ORPHA:101010,Disorder,Disease,Autosomal spastic paraplegia type 30,SPG30 +GARD:0016943,Orphanet,ORPHA:101068,Disorder,Disease,Congenital stromal corneal dystrophy,CSCD|Congenital hereditary stromal dystrophy|Witschel dystrophy +GARD:0016944,Orphanet,ORPHA:101351,Disorder,Morphological anomaly,Familial isolated congenital asplenia, +GARD:0016945,Orphanet,ORPHA:103908,Disorder,Disease,Congenital sodium diarrhea,Na-H exchange deficiency|Non-syndromic congenital sodium diarrhea +GARD:0016946,Orphanet,ORPHA:103918,Disorder,Disease,Tropical pancreatitis,TCP|Tropical calcific chronic pancreatitis +GARD:0016947,Orphanet,ORPHA:137631,Disorder,Disease,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome", +GARD:0016948,Orphanet,ORPHA:137639,Subtype of disorder,Clinical subtype,Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,Ataxia-delayed dentition-hypomyelination syndrome +GARD:0016949,Orphanet,ORPHA:137681,Disorder,Disease,Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,Hepatoencephalopathy due to COXPD1 +GARD:0016950,Orphanet,ORPHA:137908,Disorder,Disease,Hypotonia with lactic acidemia and hyperammonemia,COXPD5|Combined oxidative phosphorylation defect type 5 +GARD:0016951,Orphanet,ORPHA:137914,Disorder,Morphological anomaly,Choanal atresia, +GARD:0016952,Orphanet,ORPHA:139474,Disorder,Malformation syndrome,17q11.2 microduplication syndrome,Dup(17)(q11.2)|Grisart-Destrée syndrome|Trisomy 17q11.2 +GARD:0016953,Orphanet,ORPHA:139518,Disorder,Disease,Distal hereditary motor neuropathy type 1,Autosomal dominant distal juvenile spinal muscular atrophy type 1|dHMN1 +GARD:0016954,Orphanet,ORPHA:139525,Disorder,Disease,Distal hereditary motor neuropathy type 2,Distal spinal muscular atrophy type 2|dHMN2|dSMA2 +GARD:0016955,Orphanet,ORPHA:139536,Disorder,Disease,Distal hereditary motor neuropathy type 5,Distal HMN V|Distal hereditary motor neuropathy type V|Distal spinal muscular atrophy type 5|dHMN5 +GARD:0016956,Orphanet,ORPHA:139547,Disorder,Disease,Distal spinal muscular atrophy type 3,Autosomal recessive distal spinal muscular atrophy type 3|Distal hereditary motor neuropathy type 3 and type 4|dHMN3 and dHMN4|dSMA3 +GARD:0016957,Orphanet,ORPHA:139557,Disorder,Disease,X-linked distal spinal muscular atrophy type 3,ATP7A-related distal motor neuropathy|DSMAX|SMAX3|X-linked dHMN3|X-linked dSMA3|X-linked distal hereditary motor neuropathy type 3 +GARD:0016958,Orphanet,ORPHA:139564,Disorder,Disease,Hereditary sensory and autonomic neuropathy type 1B,HSAN with cough and gastroesophageal reflux|HSAN1B|Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux|Hereditary sensory and autonomic neuropathy type IB +GARD:0016959,Orphanet,ORPHA:139578,Disorder,Disease,Mutilating hereditary sensory neuropathy with spastic paraplegia,Mutilating HSAN with spastic paraplegia +GARD:0016960,Orphanet,ORPHA:139589,Disorder,Disease,Distal hereditary motor neuropathy type 7,Distal spinal muscular atrophy with vocal cord paralysis|dHMN7 +GARD:0016961,Orphanet,ORPHA:140436,Disorder,Disease,Primary intraosseous venous malformation,Intraosseous hemangioma|Osseous venous malformation +GARD:0016962,Orphanet,ORPHA:140481,Disorder,Disease,Autosomal dominant slowed nerve conduction velocity, +GARD:0016963,Orphanet,ORPHA:140908,Subtype of disorder,Clinical subtype,Brachydactyly type B2, +GARD:0016964,Orphanet,ORPHA:140941,Disorder,Disease,Short stature due to primary acid-labile subunit deficiency, +GARD:0016965,Orphanet,ORPHA:140957,Disorder,Disease,Autosomal dominant macrothrombocytopenia, +GARD:0016966,Orphanet,ORPHA:140963,Disorder,Malformation syndrome,Bilateral microtia-deafness-cleft palate syndrome,Bilateral microtia-hearing loss-cleft palate syndrome +GARD:0016967,Orphanet,ORPHA:140966,Disorder,Disease,"Palmoplantar keratoderma, Nagashima type","PPK, Nagashima type|Palmoplantar hyperkeratosis, Nagashima type" +GARD:0016968,Orphanet,ORPHA:141022,Disorder,Morphological anomaly,Second branchial cleft anomaly,Second branchial cleft cyst|Second branchial cleft fistula +GARD:0016969,Orphanet,ORPHA:141074,Disorder,Morphological anomaly,External auditory canal aplasia/hypoplasia,External auditory canal stenosis/atresia +GARD:0016970,Orphanet,ORPHA:141103,Disorder,Morphological anomaly,Nasal dermoid cyst,Nasal dermoid sinus cyst +GARD:0016971,Orphanet,ORPHA:141145,Disorder,Malformation syndrome,Hemifacial hyperplasia,Hemifacial hypertrophy +GARD:0016972,Orphanet,ORPHA:141152,Disorder,Morphological anomaly,Isolated congenital hypoglossia/aglossia, +GARD:0016973,Orphanet,ORPHA:141242,Disorder,Morphological anomaly,Paramedian nasal cleft,Alar cleft|Alar rim cleft|Cleft nose|Isolated cleft of the ala nasi|Isolated coloboma of the nose|Tessier number 1 cleft +GARD:0016974,Orphanet,ORPHA:141258,Disorder,Morphological anomaly,Tessier number 4 facial cleft, +GARD:0016975,Orphanet,ORPHA:141276,Disorder,Morphological anomaly,Tessier number 7 facial cleft,Commissural facial cleft|Transverse facial cleft +GARD:0016976,Orphanet,ORPHA:141291,Disorder,Morphological anomaly,Cleft lip and alveolus, +GARD:0016977,Orphanet,ORPHA:157215,Disorder,Disease,Hereditary hypophosphatemic rickets with hypercalciuria,HHRH +GARD:0016978,Orphanet,ORPHA:157713,Subtype of disorder,Clinical subtype,Congenital or early infantile CACH syndrome, +GARD:0016979,Orphanet,ORPHA:157716,Subtype of disorder,Clinical subtype,Late infantile CACH syndrome, +GARD:0016980,Orphanet,ORPHA:157719,Subtype of disorder,Clinical subtype,Juvenile or adult CACH syndrome, +GARD:0016981,Orphanet,ORPHA:157794,Disorder,Disease,Hereditary mixed polyposis syndrome,HMPS +GARD:0016982,Orphanet,ORPHA:157798,Disorder,Disease,Serrated polyposis syndrome,Hyperplastic polyposis syndrome +GARD:0016983,Orphanet,ORPHA:157820,Disorder,Disease,Cold-induced sweating syndrome,CISS +GARD:0016984,Orphanet,ORPHA:157832,Disorder,Malformation syndrome,Craniorhiny, +GARD:0016985,Orphanet,ORPHA:157941,Disorder,Disease,Huntington disease-like 1,Early-onset prion disease with prominent psychiatric features|HDL1 +GARD:0016986,Orphanet,ORPHA:157946,Disorder,Disease,Huntington disease-like 3,HDL3 +GARD:0016987,Orphanet,ORPHA:157954,Disorder,Disease,ANE syndrome,Alopecia-progressive neurological defect-endocrinopathy syndrome +GARD:0016988,Orphanet,ORPHA:157962,Disorder,Malformation syndrome,"Oculoauricular syndrome, Schorderet type", +GARD:0016989,Orphanet,ORPHA:158025,Disorder,Disease,Hereditary progressive mucinous histiocytosis, +GARD:0016990,Orphanet,ORPHA:158681,Disorder,Disease,Epidermolysis bullosa simplex with circinate migratory erythema,EBS with circinate migratory erythema|EBS-migr +GARD:0016991,Orphanet,ORPHA:158684,Disorder,Disease,Epidermolysis bullosa simplex with pyloric atresia,EBS with pyloric atresia|EBS-PA +GARD:0016992,Orphanet,ORPHA:163596,Subtype of disorder,Clinical subtype,Hb Bart's hydrops fetalis,Alpha-thalassemia hydrops fetalis|Alpha-thalassemia major|Hemoglobin Bart's hydrops fetalis|Homozygous alpha0-thalassemia +GARD:0016993,Orphanet,ORPHA:163649,Disorder,Disease,Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome, +GARD:0016994,Orphanet,ORPHA:163662,Disorder,Disease,"Spondyloepiphyseal dysplasia, Reardon type", +GARD:0016995,Orphanet,ORPHA:163665,Disorder,Disease,"Spondyloepiphyseal dysplasia tarda, Kohn type", +GARD:0016996,Orphanet,ORPHA:163668,Disorder,Malformation syndrome,"Spondyloepiphyseal dysplasia, MacDermot type",Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome|Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome +GARD:0016997,Orphanet,ORPHA:163681,Disorder,Disease,CNTNAP2-related developmental and epileptic encephalopathy,CDFE syndrome|CDFES|CNTNAP2-related DEE|Cortical dysplasia-focal epilepsy syndrome +GARD:0016998,Orphanet,ORPHA:163690,Disorder,Disease,Hypotonia-cystinuria syndrome,HCS +GARD:0016999,Orphanet,ORPHA:163693,Disorder,Disease,2p21 microdeletion syndrome,2p21 deletion syndrome|Del(2)(p21)|Monosomy 2p21 +GARD:0017000,Orphanet,ORPHA:163696,Disorder,Disease,Action myoclonus-renal failure syndrome,AMRF|EPM4|Myoclonus-nephropathy syndrome|Progressive myoclonic epilepsy type 4|Progressive myoclonus epilepsy type 4 +GARD:0017001,Orphanet,ORPHA:163717,Disorder,Disease,Benign familial mesial temporal lobe epilepsy,Benign FMTLE +GARD:0017002,Orphanet,ORPHA:163721,Disorder,Disease,Rolandic epilepsy-speech dyspraxia syndrome, +GARD:0017003,Orphanet,ORPHA:163727,Disorder,Disease,Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,Rolandic epilepsy exercise-induced dystonia +GARD:0017004,Orphanet,ORPHA:163746,Disorder,Disease,Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease,Neurologic Waardenburg-Shah syndrome|PCWH|WS4 plus +GARD:0017005,Orphanet,ORPHA:163956,Disorder,Disease,"X-linked intellectual disability, Nascimento type",X-linked intellectual disability-nail dystrophy-seizures syndrome +GARD:0017006,Orphanet,ORPHA:163961,Disorder,Disease,X-linked cerebral-cerebellar-coloboma syndrome,"X-linked intellectual disability, Kroes type" +GARD:0017007,Orphanet,ORPHA:163966,Disorder,Disease,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome +GARD:0017008,Orphanet,ORPHA:163976,Disorder,Malformation syndrome,"X-linked intellectual disability, Van Esch type", +GARD:0017009,Orphanet,ORPHA:163979,Disorder,Disease,X-linked intellectual disability-craniofacioskeletal syndrome, +GARD:0017010,Orphanet,ORPHA:163985,Disorder,Disease,Hyperekplexia-epilepsy syndrome, +GARD:0017011,Orphanet,ORPHA:165805,Disorder,Disease,Familial mesial temporal lobe epilepsy with febrile seizures, +GARD:0017012,Orphanet,ORPHA:166011,Disorder,Disease,"Multiple epiphyseal dysplasia, Beighton type",Multiple epiphyseal dysplasia-myopia-deafness syndrome|Multiple epiphyseal dysplasia-myopia-hearing loss syndrome +GARD:0017013,Orphanet,ORPHA:166016,Disorder,Disease,"Multiple epiphyseal dysplasia, Lowry type",Multiple epiphyseal dysplasia with Robin phenotype +GARD:0017014,Orphanet,ORPHA:166024,Disorder,Disease,"Multiple epiphyseal dysplasia, Al-Gazali type",Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome +GARD:0017015,Orphanet,ORPHA:166029,Disorder,Disease,"Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia", +GARD:0017016,Orphanet,ORPHA:166032,Disorder,Disease,"Multiple epiphyseal dysplasia, with miniepiphyses", +GARD:0017017,Orphanet,ORPHA:166035,Disorder,Malformation syndrome,Brachydactyly-short stature-retinitis pigmentosa syndrome, +GARD:0017018,Orphanet,ORPHA:166038,Disorder,Disease,"Metaphyseal chondrodysplasia, Kaitila type", +GARD:0017019,Orphanet,ORPHA:166078,Subtype of disorder,Clinical subtype,Von Willebrand disease type 1, +GARD:0017020,Orphanet,ORPHA:166081,Subtype of disorder,Clinical subtype,Von Willebrand disease type 2, +GARD:0017021,Orphanet,ORPHA:166084,Subtype of disorder,Clinical subtype,Von Willebrand disease type 2A, +GARD:0017022,Orphanet,ORPHA:166087,Subtype of disorder,Clinical subtype,Von Willebrand disease type 2B, +GARD:0017023,Orphanet,ORPHA:166090,Subtype of disorder,Clinical subtype,Von Willebrand disease type 2M, +GARD:0017024,Orphanet,ORPHA:166093,Subtype of disorder,Clinical subtype,Von Willebrand disease type 2N, +GARD:0017025,Orphanet,ORPHA:166096,Subtype of disorder,Clinical subtype,Von Willebrand disease type 3, +GARD:0017026,Orphanet,ORPHA:166105,Disorder,Disease,FASTKD2-related infantile mitochondrial encephalomyopathy, +GARD:0017027,Orphanet,ORPHA:166119,Disorder,Disease,Isolated osteopoikilosis, +GARD:0017028,Orphanet,ORPHA:166412,Disorder,Disease,Hot water reflex epilepsy, +GARD:0017029,Orphanet,ORPHA:166433,Disorder,Disease,Reading seizures, +GARD:0017030,Orphanet,ORPHA:168451,Disorder,Disease,Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome, +GARD:0017031,Orphanet,ORPHA:168486,Disorder,Disease,Congenital neuronal ceroid lipofuscinosis,Congenital NCL +GARD:0017032,Orphanet,ORPHA:168491,Disorder,Disease,Late infantile neuronal ceroid lipofuscinosis,Jansky-Bielschowsky disease|LINCL|Late infantile NCL +GARD:0017033,Orphanet,ORPHA:168558,Disorder,Disease,"46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency",XY sex reversal-adrenal failure +GARD:0017034,Orphanet,ORPHA:168563,Disorder,Malformation syndrome,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome", +GARD:0017035,Orphanet,ORPHA:168566,Disorder,Disease,Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,Fatal mitochondrial disease due to COXPD3 +GARD:0017036,Orphanet,ORPHA:168577,Disorder,Disease,Hereditary cryohydrocytosis with reduced stomatin,CHC type 2|Hereditary cryohydrocytosis type 2|Stomatin-deficient cryohydrocytosis|sdCHC +GARD:0017037,Orphanet,ORPHA:168583,Subtype of disorder,Clinical subtype,Hereditary North American Indian childhood cirrhosis, +GARD:0017038,Orphanet,ORPHA:168601,Disorder,Disease,Congenital enteropathy due to enteropeptidase deficiency,Congenital enterokinase deficiency +GARD:0017039,Orphanet,ORPHA:168606,Disorder,Disease,Seborrhea-like dermatitis with psoriasiform elements, +GARD:0017040,Orphanet,ORPHA:168612,Disorder,Biological anomaly,Congenital deficiency in alpha-fetoprotein, +GARD:0017041,Orphanet,ORPHA:168629,Subtype of disorder,Etiological subtype,Autosomal thrombocytopenia with normal platelets, +GARD:0017042,Orphanet,ORPHA:168632,Disorder,Disease,Generalized basaloid follicular hamartoma syndrome, +GARD:0017043,Orphanet,ORPHA:168953,Disorder,Disease,Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement,8p11 myeloproliferative syndrome|Stem cell leukemia/lymphoma +GARD:0017044,Orphanet,ORPHA:168984,Disorder,Malformation syndrome,CLAPO syndrome, +GARD:0017045,Orphanet,ORPHA:169079,Disorder,Disease,Cernunnos-XLF deficiency,Cernunnos XLFD|Cernunnos deficiency|Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|NHEJ1 deficiency +GARD:0017046,Orphanet,ORPHA:169082,Disorder,Disease,Combined immunodeficiency due to CD3gamma deficiency, +GARD:0017047,Orphanet,ORPHA:169085,Disorder,Disease,Susceptibility to respiratory infections associated with CD8alpha chain mutation,Familial CD8 deficiency +GARD:0017048,Orphanet,ORPHA:169090,Disorder,Disease,Combined immunodeficiency due to CRAC channel dysfunction,Immune dysfunction due to T-cell inactivation due to calcium entry defect +GARD:0017049,Orphanet,ORPHA:169100,Disorder,Disease,Immunodeficiency due to CD25 deficiency,Interleukin-2 receptor alpha chain deficiency +GARD:0017050,Orphanet,ORPHA:169150,Disorder,Disease,Immunodeficiency due to a late component of complement deficiency,Immunodeficiency due to C5 to C9 component complement deficiency|Terminal complement pathway deficiency +GARD:0017051,Orphanet,ORPHA:169154,Disorder,Disease,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,T-B+ SCID due to IL-7Ralpha deficiency +GARD:0017052,Orphanet,ORPHA:169157,Disorder,Disease,T-B+ severe combined immunodeficiency due to CD45 deficiency,T-B+ SCID due to CD45 deficiency +GARD:0017053,Orphanet,ORPHA:169160,Disorder,Disease,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta +GARD:0017054,Orphanet,ORPHA:169464,Disorder,Disease,Primary CD59 deficiency, +GARD:0017055,Orphanet,ORPHA:169467,Disorder,Disease,Recurrent Neisseria infections due to factor D deficiency, +GARD:0017056,Orphanet,ORPHA:169793,Subtype of disorder,Clinical subtype,Severe hemophilia B,Severe congenital F9 deficiency|Severe congenital factor IX deficiency +GARD:0017057,Orphanet,ORPHA:169796,Subtype of disorder,Clinical subtype,Moderate hemophilia B,Moderate congenital F9 deficiency|Moderate congenital factor IX deficiency +GARD:0017058,Orphanet,ORPHA:169799,Subtype of disorder,Clinical subtype,Mild hemophilia B,Mild congenital F9 deficiency|Mild congenital factor IX deficiency +GARD:0017059,Orphanet,ORPHA:169802,Subtype of disorder,Clinical subtype,Severe hemophilia A,Severe congenital F8 deficiency|Severe congenital factor VIII deficiency +GARD:0017060,Orphanet,ORPHA:169805,Subtype of disorder,Clinical subtype,Moderate hemophilia A,Moderate congenital F8 deficiency|Moderate congenital factor VIII deficiency +GARD:0017061,Orphanet,ORPHA:169808,Subtype of disorder,Clinical subtype,Mild hemophilia A,Mild congenital F8 deficiency|Mild congenital factor VIII deficiency +GARD:0017062,Orphanet,ORPHA:171445,Disorder,Disease,Muscle filaminopathy, +GARD:0017063,Orphanet,ORPHA:171607,Disorder,Disease,X-linked spastic paraplegia type 34,SPG34 +GARD:0017064,Orphanet,ORPHA:171612,Disorder,Disease,Autosomal dominant spastic paraplegia type 37,SPG37 +GARD:0017065,Orphanet,ORPHA:171617,Disorder,Disease,Autosomal dominant spastic paraplegia type 38,SPG38 +GARD:0017066,Orphanet,ORPHA:171680,Disorder,Malformation syndrome,Lissencephaly due to TUBA1A mutation, +GARD:0017067,Orphanet,ORPHA:171690,Disorder,Disease,Metabolic myopathy due to lactate transporter defect,Erythrocyte lactate transporter defect +GARD:0017068,Orphanet,ORPHA:171706,Disorder,Disease,Short stature-delayed bone age due to thyroid hormone metabolism deficiency, +GARD:0017069,Orphanet,ORPHA:171719,Disorder,Malformation syndrome,Cutis laxa-Marfanoid syndrome, +GARD:0017070,Orphanet,ORPHA:171844,Disorder,Malformation syndrome,Blindness-scoliosis-arachnodactyly syndrome, +GARD:0017071,Orphanet,ORPHA:171848,Disorder,Disease,Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,"PHARC syndrome|Peripheral neuropathy, Fiskerstrand type|Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome" +GARD:0017072,Orphanet,ORPHA:171851,Disorder,Disease,MEDNIK syndrome,Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome +GARD:0017073,Orphanet,ORPHA:171863,Disorder,Disease,Autosomal dominant spastic paraplegia type 42,SPG42 +GARD:0017074,Orphanet,ORPHA:177907,Subtype of disorder,Etiological subtype,Prader-Willi syndrome due to translocation, +GARD:0017075,Orphanet,ORPHA:177910,Subtype of disorder,Etiological subtype,Prader-Willi syndrome due to imprinting mutation, +GARD:0017076,Orphanet,ORPHA:177926,Subtype of disorder,Clinical subtype,Bleeding disorder in hemophilia A carriers, +GARD:0017077,Orphanet,ORPHA:177929,Subtype of disorder,Clinical subtype,Bleeding disorder in hemophilia B carriers, +GARD:0017078,Orphanet,ORPHA:178145,Subtype of disorder,Clinical subtype,Moderate multiminicore disease with hand involvement, +GARD:0017079,Orphanet,ORPHA:178307,Disorder,Disease,Reticulate acropigmentation of Kitamura,RAK +GARD:0017080,Orphanet,ORPHA:178400,Disorder,Disease,Distal myopathy with anterior tibial onset,Distal anterior compartment myopathy +GARD:0017081,Orphanet,ORPHA:178461,Disorder,Disease,X-linked myopathy with postural muscle atrophy,XMPMA +GARD:0017082,Orphanet,ORPHA:178506,Disorder,Disease,"Brain calcification, Rajab type", +GARD:0017083,Orphanet,ORPHA:179494,Subtype of disorder,Etiological subtype,Obesity due to leptin receptor gene deficiency, +GARD:0017084,Orphanet,ORPHA:183663,Disorder,Disease,Hyper-IgM syndrome with susceptibility to opportunistic infections,HIGM with susceptibility to opportunistic infections +GARD:0017085,Orphanet,ORPHA:183666,Disorder,Disease,Hyper-IgM syndrome without susceptibility to opportunistic infections,HIGM without susceptibility to opportunistic infections +GARD:0017086,Orphanet,ORPHA:183675,Disorder,Disease,Recurrent infections associated with rare immunoglobulin isotypes deficiency,IgG subclass deficiency with IgA subclass deficiency|Isolated IgG subclass deficiency|Kappa-chain deficiency|Selective IgG subclass deficiency +GARD:0017087,Orphanet,ORPHA:183707,Disorder,Disease,Neutrophil immunodeficiency syndrome, +GARD:0017088,Orphanet,ORPHA:189466,Subtype of disorder,Clinical subtype,Familial isolated hypoparathyroidism due to impaired PTH secretion, +GARD:0017089,Orphanet,ORPHA:199279,Disorder,Disease,Familial angiolipomatosis, +GARD:0017090,Orphanet,ORPHA:199285,Disorder,Disease,Hereditary hypercarotenemia and vitamin A deficiency, +GARD:0017091,Orphanet,ORPHA:199302,Disorder,Morphological anomaly,Isolated cleft lip, +GARD:0017092,Orphanet,ORPHA:199306,Disorder,Morphological anomaly,Cleft lip/palate,Alveolar cleft lip and palate|Cleft lip and palate|Cleft lip-alveolus-palate syndrome|FLP +GARD:0017093,Orphanet,ORPHA:199315,Disorder,Malformation syndrome,Familial clubfoot with or without associated lower limb anomalies, +GARD:0017094,Orphanet,ORPHA:199332,Disorder,Malformation syndrome,Endocrine-cerebro-osteodysplasia syndrome,ECO syndrome +GARD:0017095,Orphanet,ORPHA:199337,Disorder,Disease,Pancreatic insufficiency-anemia-hyperostosis syndrome, +GARD:0017096,Orphanet,ORPHA:199340,Disorder,Disease,"Muscular dystrophy, Selcen type", +GARD:0017097,Orphanet,ORPHA:199348,Disorder,Disease,Thiamine-responsive encephalopathy, +GARD:0017098,Orphanet,ORPHA:200418,Disorder,Disease,Immunodeficiency with factor I anomaly,Complete factor I deficiency +GARD:0017099,Orphanet,ORPHA:200421,Disorder,Disease,Immunodeficiency with factor H anomaly, +GARD:0017100,Orphanet,ORPHA:206484,Disorder,Disease,Gonadoblastoma, +GARD:0017101,Orphanet,ORPHA:206580,Disorder,Disease,Autosomal recessive lower motor neuron disease with childhood onset,Autosomal recessive distal spinal muscular atrophy type 4|Distal spinal muscular atrophy type 4|dSMA4 +GARD:0017102,Orphanet,ORPHA:209335,Disorder,Disease,Autosomal dominant adult-onset proximal spinal muscular atrophy,"Autosomal dominant adult-onset proximal SMA|Autosomal dominant late-onset spinal muscular atrophy, Finkel type|Finkel disease|SMAFK" +GARD:0017103,Orphanet,ORPHA:209370,Disorder,Disease,Severe neonatal-onset encephalopathy with microcephaly,Severe congenital encephalopathy due to MECP2 mutation +GARD:0017104,Orphanet,ORPHA:209867,Disorder,Disease,Autosomal dominant rhegmatogenous retinal detachment, +GARD:0017105,Orphanet,ORPHA:209916,Disorder,Disease,Extraskeletal myxoid chondrosarcoma, +GARD:0017106,Orphanet,ORPHA:209919,Disorder,Disease,Idiopathic copper-associated cirrhosis,Non-Wilsonian hepatic copper toxicosis of infancy and childhood +GARD:0017107,Orphanet,ORPHA:209967,Disorder,Disease,Episodic ataxia type 6, +GARD:0017108,Orphanet,ORPHA:209970,Disorder,Disease,Episodic ataxia type 7, +GARD:0017109,Orphanet,ORPHA:210141,Disorder,Disease,Inherited congenital spastic tetraplegia,Inherited congenital spastic quadriplegia +GARD:0017110,Orphanet,ORPHA:210144,Disorder,Malformation syndrome,"Lethal polymalformative syndrome, Boissel type", +GARD:0017111,Orphanet,ORPHA:210163,Disorder,Disease,"Congenital lethal myopathy, Compton-North type", +GARD:0017112,Orphanet,ORPHA:210548,Disorder,Disease,Macrocephaly-intellectual disability-autism syndrome, +GARD:0017113,Orphanet,ORPHA:211067,Disorder,Disease,Episodic ataxia type 5, +GARD:0017114,Orphanet,ORPHA:216866,Subtype of disorder,Clinical subtype,Classic pantothenate kinase-associated neurodegeneration,"NBIA1, classic form|Neurodegeneration with brain iron accumulation type 1, classic form|PKAN, classic form" +GARD:0017115,Orphanet,ORPHA:216873,Subtype of disorder,Clinical subtype,Atypical pantothenate kinase-associated neurodegeneration,"NBIA1, atypical form|Neurodegeneration with brain iron accumulation type 1, atypical form|PKAN, atypical form" +GARD:0017116,Orphanet,ORPHA:217026,Disorder,Malformation syndrome,"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type",Hadziselimovic syndrome|Microcephaly-faciocardioskeletal syndrome +GARD:0017117,Orphanet,ORPHA:217059,Disorder,Morphological anomaly,Isolated congenital digital clubbing,Isolated congenital acropachy|Isolated congenital nail clubbing +GARD:0017118,Orphanet,ORPHA:217085,Subtype of disorder,Clinical subtype,"Mucopolysaccharidosis type 2, severe form","Hunter syndrome type A|Iduronate 2-sulfatase deficiency type A|MPS2A|MPSIIA|Mucopolysaccharidosis type 2A|Mucopolysaccharidosis type II, severe form|Mucopolysaccharidosis type IIA" +GARD:0017119,Orphanet,ORPHA:217093,Subtype of disorder,Clinical subtype,"Mucopolysaccharidosis type 2, attenuated form","Hunter syndrome type B|Iduronate 2-sulfatase deficiency type B|MPS2B|MPSIIB|Mucopolysaccharidosis type 2B|Mucopolysaccharidosis type II, attenuated form|Mucopolysaccharidosis type IIB" +GARD:0017120,Orphanet,ORPHA:217335,Disorder,Malformation syndrome,RIN2 syndrome,MACS syndrome|Macrocephaly-alopecia-cutis laxa-scoliosis syndrome|RIN2 deficiency|Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome +GARD:0017121,Orphanet,ORPHA:217340,Disorder,Malformation syndrome,17q21.31 microduplication syndrome,Dup(17)(q21.31)|Trisomy 17q21.31 +GARD:0017122,Orphanet,ORPHA:217385,Disorder,Malformation syndrome,17p13.3 microduplication syndrome,17p13.3 duplication syndrome|Dup(17)(p13.3)|Trisomy 17p13.3 +GARD:0017123,Orphanet,ORPHA:217396,Disorder,Disease,Progressive polyneuropathy with bilateral striatal necrosis, +GARD:0017124,Orphanet,ORPHA:217407,Disorder,Disease,Hereditary hypotrichosis with recurrent skin vesicles, +GARD:0017125,Orphanet,ORPHA:217467,Disorder,Disease,Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,Hereditary thrombophilia due to congenital HRG deficiency +GARD:0017126,Orphanet,ORPHA:217563,Disorder,Disease,Neonatal acute respiratory distress due to SP-B deficiency,Neonatal acute respiratory distress due to surfactant protein B deficiency +GARD:0017127,Orphanet,ORPHA:217566,Disorder,Disease,Chronic respiratory distress with surfactant metabolism deficiency, +GARD:0017128,Orphanet,ORPHA:217622,Disorder,Disease,Sensorineural deafness with dilated cardiomyopathy,Neurosensory deafness with dilated cardiomyopathy|Neurosensory hearing loss with dilated cardiomyopathy|Sensorineural hearing loss with dilated cardiomyopathy +GARD:0017129,Orphanet,ORPHA:217656,Disorder,Disease,Familial isolated arrhythmogenic right ventricular dysplasia,Familial isolated ARVC|Familial isolated ARVD|Familial isolated arrhythmogenic right ventricular cardiomyopathy|Familial isolated arrhythmogenic ventricular cardiomyopathy|Familial isolated arrhythmogenic ventricular dysplasia +GARD:0017130,Orphanet,ORPHA:220295,Disorder,Disease,Xeroderma pigmentosum-Cockayne syndrome complex,XP/CS complex +GARD:0017131,Orphanet,ORPHA:220386,Subtype of disorder,Clinical subtype,Semilobar holoprosencephaly, +GARD:0017132,Orphanet,ORPHA:220443,Disorder,Disease,Bleeding diathesis due to thromboxane synthesis deficiency, +GARD:0017133,Orphanet,ORPHA:220465,Disorder,Disease,Laron syndrome with immunodeficiency,Laron-like syndrome|Short stature due to STAT5b deficiency +GARD:0017134,Orphanet,ORPHA:221008,Subtype of disorder,Clinical subtype,Rothmund-Thomson syndrome type 1,Poikiloderma of Rothmund-Thomson type 1|RTS1 +GARD:0017135,Orphanet,ORPHA:221016,Subtype of disorder,Clinical subtype,Rothmund-Thomson syndrome type 2,Poikiloderma of Rothmund-Thomson type 2|RTS2 +GARD:0017136,Orphanet,ORPHA:221039,Disorder,Disease,"Hereditary sclerosing poikiloderma, Weary type", +GARD:0017137,Orphanet,ORPHA:221083,Disorder,Disease,Hemifacial spasm,Facial hemispasm|Focal myoclonus of face +GARD:0017138,Orphanet,ORPHA:221126,Disorder,Malformation syndrome,Fowler vasculopaty,Cerebral proliferative glomeruloid vasculopathy|Encephaloclastic proliferative vasculopathy|Hydrocephaly/hydranencephaly due to cerebral vasculopathy|Proliferative vasculopathy and hydranencephaly/hydrocephaly +GARD:0017139,Orphanet,ORPHA:221139,Disorder,Disease,Combined immunodeficiency with faciooculoskeletal anomalies,Roifman-Chitayat syndrome +GARD:0017140,Orphanet,ORPHA:221145,Disorder,Malformation syndrome,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",ARCL1C|Autosomal recessive cutis laxa type 1C|Urban-Rifkin-Davis syndrome +GARD:0017141,Orphanet,ORPHA:225154,Disorder,Disease,Familial infantile bilateral striatal necrosis,Familial IBSN|Familial infantile striatonigral degeneration|Familial infantile striatonigral necrosis +GARD:0017142,Orphanet,ORPHA:227535,Disorder,Disease,Hereditary breast cancer,Familial breast cancer|Familial breast carcinoma|Hereditary breast carcinoma +GARD:0017143,Orphanet,ORPHA:227976,Disorder,Disease,"Autosomal recessive optic atrophy, OPA7 type", +GARD:0017144,Orphanet,ORPHA:228003,Disorder,Disease,Severe combined immunodeficiency due to CORO1A deficiency,SCID due to CORO1A deficiency|SCID due to coronin-1A deficiency|Severe combined immunodeficiency due to coronin-1A deficiency +GARD:0017145,Orphanet,ORPHA:228012,Disorder,Disease,Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome|Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome|Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome +GARD:0017146,Orphanet,ORPHA:228169,Disorder,Disease,Autosomal dominant striatal neurodegeneration,ADSD +GARD:0017147,Orphanet,ORPHA:228179,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2M,CMT2M +GARD:0017148,Orphanet,ORPHA:228190,Disorder,Malformation syndrome,Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome +GARD:0017149,Orphanet,ORPHA:228302,Subtype of disorder,Clinical subtype,"Carnitine palmitoyl transferase II deficiency, myopathic form","CPT2, adult-onset form|CPT2, myopathic form|CPTII, adult-onset form|CPTII, myopathic form|Carnitine palmitoyl transferase II deficiency, adult-onset form|Carnitine palmitoyl transferase deficiency type 2, adult-onset form|Carnitine palmitoyl transferase deficiency type 2, myopathic form" +GARD:0017150,Orphanet,ORPHA:228305,Subtype of disorder,Clinical subtype,"Carnitine palmitoyl transferase II deficiency, severe infantile form","CPT2, hepatocardiomuscular form|CPT2, severe infantile form|CPTII, hepatocardiomuscular form|CPTII, severe infantile form|Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form|Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|Carnitine palmitoyl transferase deficiency type 2, severe infantile form" +GARD:0017151,Orphanet,ORPHA:228308,Subtype of disorder,Clinical subtype,"Carnitine palmitoyl transferase II deficiency, neonatal form","CPT2, lethal systemic form|CPT2, neonatal form|CPTII, lethal systemic form|CPTII, neonatal form|Carnitine palmitoyl transferase II deficiency, lethal systemic form|Carnitine palmitoyl transferase deficiency type 2, lethal systemic form|Carnitine palmitoyl transferase deficiency type 2, neonatal form" +GARD:0017152,Orphanet,ORPHA:228354,Subtype of disorder,Etiological subtype,CLN8 disease, +GARD:0017153,Orphanet,ORPHA:228374,Disorder,Disease,Charcot-Marie-Tooth disease type 2B5,AR-CMT2B5|Autosomal recessive Charcot-Marie-Tooth disease type 2B5|SEOAN due to NEFL deficiency|Severe early-onset axonal neuropathy due to NEFL deficiency|Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency +GARD:0017154,Orphanet,ORPHA:228387,Disorder,Disease,Spondylo-megaepiphyseal-metaphyseal dysplasia, +GARD:0017155,Orphanet,ORPHA:229717,Disorder,Disease,Isolated agammaglobulinemia,Isolated hypogammaglobulinemia +GARD:0017156,Orphanet,ORPHA:230857,Disorder,Disease,Ehlers-Danlos/osteogenesis imperfecta syndrome,EDS/OI syndrome +GARD:0017157,Orphanet,ORPHA:231031,Disorder,Disease,Erythema palmare hereditarium,Lane disease|Red palms disease +GARD:0017158,Orphanet,ORPHA:231040,Disorder,Disease,Familial generalized lentiginosis,Familial lentigines profusa|Familial multiple lentigines syndrome without systemic involvement +GARD:0017159,Orphanet,ORPHA:231108,Subtype of disorder,Clinical subtype,Familial rhabdoid tumor,RTPS|Rhabdoid tumor predisposition syndrome +GARD:0017160,Orphanet,ORPHA:231120,Subtype of disorder,Etiological subtype,Beckwith-Wiedemann syndrome due to CDKN1C mutation, +GARD:0017161,Orphanet,ORPHA:231160,Disorder,Disease,Familial cerebral saccular aneurysm,Familial berry aneurysm|Familial intracranial saccular aneurysm +GARD:0017162,Orphanet,ORPHA:231214,Subtype of disorder,Clinical subtype,Beta-thalassemia major,Cooley anemia|Mediterranean anemia +GARD:0017163,Orphanet,ORPHA:231222,Subtype of disorder,Clinical subtype,Beta-thalassemia intermedia, +GARD:0017164,Orphanet,ORPHA:231226,Subtype of disorder,Clinical subtype,Dominant beta-thalassemia,Inclusion body beta-thalassemia +GARD:0017165,Orphanet,ORPHA:231237,Disorder,Disease,Delta-beta-thalassemia, +GARD:0017166,Orphanet,ORPHA:231393,Disorder,Disease,Beta-thalassemia-X-linked thrombocytopenia syndrome,XLTT +GARD:0017167,Orphanet,ORPHA:231401,Disorder,Disease,Alpha-thalassemia-myelodysplastic syndrome,ATMDS|Acquired HbH disease|Acquired hemoglobin H disease +GARD:0017168,Orphanet,ORPHA:231500,Subtype of disorder,Clinical subtype,Hermansky-Pudlak syndrome due to BLOC-3 deficiency,HPS with pulmonary fibrosis|Hermansky-Pudlak syndrome with pulmonary fibrosis +GARD:0017169,Orphanet,ORPHA:231512,Subtype of disorder,Clinical subtype,Hermansky-Pudlak syndrome due to BLOC-2 deficiency,HPS without pulmonary fibrosis|Hermansky-Pudlak syndrome without pulmonary fibrosis +GARD:0017170,Orphanet,ORPHA:231531,Subtype of disorder,Clinical subtype,Hermansky-Pudlak syndrome due to BLOC-1 deficiency, +GARD:0017171,Orphanet,ORPHA:238329,Disorder,Disease,Severe X-linked mitochondrial encephalomyopathy,Mitochondrial encephalomyopathy due to COXPD6|Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 +GARD:0017172,Orphanet,ORPHA:238446,Disorder,Malformation syndrome,15q11q13 microduplication syndrome,15q11q13 duplication syndrome|Dup(15)(q11q13)|Trisomy 15q11q13 +GARD:0017173,Orphanet,ORPHA:238475,Disorder,Disease,Familial hypercholanemia,Hereditary hypercholanemia +GARD:0017174,Orphanet,ORPHA:238505,Disorder,Disease,Combined immunodeficiency due to CD27 deficiency,Autosomal recessive lymphoproliferative disease due to CD27 deficiency|CD27 deficiency +GARD:0017175,Orphanet,ORPHA:238523,Disorder,Disease,Atypical hypotonia-cystinuria syndrome,Atypical HCS +GARD:0017176,Orphanet,ORPHA:238557,Disorder,Disease,Chuvash erythrocytosis,Chuvash polycythemia|Von Hippel-Lindau-dependent polycythemia +GARD:0017177,Orphanet,ORPHA:238578,Subtype of disorder,Etiological subtype,Familial clubfoot due to 17q23.1q23.2 microduplication,Hereditary clubfoot due to 17q23.1-q23.2 microduplication +GARD:0017178,Orphanet,ORPHA:238613,Subtype of disorder,Etiological subtype,Beckwith-Wiedemann syndrome due to NSD1 mutation, +GARD:0017179,Orphanet,ORPHA:238670,Disorder,Disease,Isolated thyrotropin-releasing hormone deficiency,Isolated TRF deficiency|Isolated TRH deficiency|Isolated TSH-releasing factor deficiency|Isolated prothyroliberin deficiency|Isolated protirelin deficiency|Isolated thyroliberin deficiency|Isolated thyrotropin-releasing factor deficiency +GARD:0017180,Orphanet,ORPHA:238744,Disorder,Malformation syndrome,Mammary-digital-nail syndrome,MDN syndrome|Onycho-digito-mammary syndrome +GARD:0017181,Orphanet,ORPHA:238750,Disorder,Malformation syndrome,4q21 microdeletion syndrome,Del(4)(q21)|Monosomy 4q21 +GARD:0017182,Orphanet,ORPHA:240071,Subtype of disorder,Clinical subtype,Classic progressive supranuclear palsy syndrome,Classic PSP syndrome|Richardson syndrome|Steele-Richardson-Olszewski disease +GARD:0017183,Orphanet,ORPHA:240085,Subtype of disorder,Clinical subtype,Progressive supranuclear palsy-parkinsonism syndrome,PSP-p|PSP-parkinsonism +GARD:0017184,Orphanet,ORPHA:240760,Disorder,Malformation syndrome,Nijmegen breakage syndrome-like disorder,Microcephaly and chromosomal instability without immunodeficiency|NBS-like disorder|NBSLD|RAD50 deficiency +GARD:0017185,Orphanet,ORPHA:243343,Disorder,Disease,Dimethylglycine dehydrogenase deficiency,DMG dehydrogenase deficiency|DMGDH deficiency +GARD:0017186,Orphanet,ORPHA:244305,Disorder,Disease,Dominant hypophosphatemia with nephrolithiasis or osteoporosis, +GARD:0017187,Orphanet,ORPHA:247198,Disorder,Disease,Progressive cerebello-cerebral atrophy,PCCA +GARD:0017188,Orphanet,ORPHA:247262,Disorder,Disease,Hyperphosphatasia-intellectual disability syndrome,Mabry syndrome +GARD:0017189,Orphanet,ORPHA:247511,Disorder,Disease,Autosomal dominant secondary polycythemia,Autosomal dominant secondary erythrocytosis +GARD:0017190,Orphanet,ORPHA:247522,Disorder,Disease,Primary ciliary dyskinesia-retinitis pigmentosa syndrome, +GARD:0017191,Orphanet,ORPHA:247623,Subtype of disorder,Clinical subtype,Perinatal lethal hypophosphatasia,Perinatal lethal Rathbun disease|Perinatal lethal phosphoethanolaminuria +GARD:0017192,Orphanet,ORPHA:247651,Subtype of disorder,Clinical subtype,Infantile hypophosphatasia,Infantile Rathbun disease|Infantile phosphoethanolaminuria +GARD:0017193,Orphanet,ORPHA:247676,Subtype of disorder,Clinical subtype,Adult hypophosphatasia,Adult Rathbun disease|Adult phosphoethanolaminuria +GARD:0017194,Orphanet,ORPHA:247685,Subtype of disorder,Clinical subtype,Odontohypophosphatasia, +GARD:0017195,Orphanet,ORPHA:247768,Disorder,Malformation syndrome,Müllerian aplasia and hyperandrogenism,Müllerian duct failure and hyperandrogenism|WNT4 deficiency +GARD:0017196,Orphanet,ORPHA:247794,Disorder,Disease,Juvenile cataract-microcornea-renal glucosuria syndrome,Juvenile cataract-microcornea-renal glycosuria syndrome +GARD:0017197,Orphanet,ORPHA:247806,Subtype of disorder,Clinical subtype,APC-related attenuated familial adenomatous polyposis,APC-related AFAP|APC-related attenuated FAP|APC-related attenuated familial polyposis coli +GARD:0017198,Orphanet,ORPHA:247820,Disorder,Malformation syndrome,Ectodermal dysplasia-syndactyly syndrome,EDSS|EDSS1 +GARD:0017199,Orphanet,ORPHA:247827,Disorder,Malformation syndrome,Ectodermal dysplasia-cutaneous syndactyly syndrome,EDCS|EDSS2 +GARD:0017200,Orphanet,ORPHA:247834,Disorder,Disease,Occult macular dystrophy,OCMD|OMD +GARD:0017201,Orphanet,ORPHA:247868,Disorder,Disease,NLRP12-associated hereditary periodic fever syndrome,FCAS2|Familial cold autoinflammatory syndrome type 2|NAPS12 +GARD:0017202,Orphanet,ORPHA:248408,Subtype of disorder,Clinical subtype,Familial hypodysfibrinogenemia, +GARD:0017203,Orphanet,ORPHA:250984,Subtype of disorder,Clinical subtype,Autosomal recessive Stickler syndrome, +GARD:0017204,Orphanet,ORPHA:251028,Subtype of disorder,Etiological subtype,SATB2-associated syndrome due to a chromosomal rearrangement,2q33.1 microdeletion syndrome|Del(2)(q33.1)|Monosomy 2q33.1 +GARD:0017205,Orphanet,ORPHA:251279,Disorder,Disease,Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome +GARD:0017206,Orphanet,ORPHA:251282,Disorder,Disease,Autosomal dominant spastic ataxia type 1,SPAX1 +GARD:0017207,Orphanet,ORPHA:251290,Disorder,Malformation syndrome,Parietal foramina with clavicular hypoplasia,Parietal foramina with cleidocranial dysplasia +GARD:0017208,Orphanet,ORPHA:251295,Disorder,Disease,Pigmented paravenous retinochoroidal atrophy,PPRCA +GARD:0017209,Orphanet,ORPHA:251347,Disorder,Disease,Ataxia-telangiectasia-like disorder,ATLD +GARD:0017210,Orphanet,ORPHA:251383,Disorder,Malformation syndrome,CK syndrome,X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome +GARD:0017211,Orphanet,ORPHA:251510,Disorder,Malformation syndrome,"46,XY partial gonadal dysgenesis","46,XY PGD|46,XY partial testicular dysgenesis" +GARD:0017212,Orphanet,ORPHA:251515,Disorder,Malformation syndrome,Distal arthrogryposis type 10,DA10|Plantar flexion contracture|Short Achilles tendon|Short tendo calcaneus +GARD:0017213,Orphanet,ORPHA:251523,Disorder,Disease,Hyperzincemia and hypercalprotectinemia,Hz/Hc|PAMI syndrome|PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome +GARD:0017214,Orphanet,ORPHA:251858,Subtype of disorder,Histopathological subtype,Medulloblastoma with extensive nodularity,MBEN +GARD:0017215,Orphanet,ORPHA:251863,Subtype of disorder,Histopathological subtype,Desmoplastic/nodular medulloblastoma, +GARD:0017216,Orphanet,ORPHA:251867,Subtype of disorder,Histopathological subtype,Classic medulloblastoma, +GARD:0017217,Orphanet,ORPHA:252202,Disorder,Disease,Constitutional mismatch repair deficiency syndrome,CMMR-D syndrome +GARD:0017218,Orphanet,ORPHA:254351,Disorder,Malformation syndrome,Distal 7q11.23 microdeletion syndrome,Distal del(7)(q11.23)|Distal monosomy 7q11.23 +GARD:0017219,Orphanet,ORPHA:254519,Disorder,Malformation syndrome,Kagami-Ogata syndrome,KOS +GARD:0017220,Orphanet,ORPHA:254525,Subtype of disorder,Etiological subtype,Temple syndrome due to paternal 14q32.2 microdeletion,Paternal del(14)(q32.2) +GARD:0017221,Orphanet,ORPHA:254528,Subtype of disorder,Etiological subtype,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,Maternal del(14)(q32.2)|Maternal monosomy 14q32.2 +GARD:0017222,Orphanet,ORPHA:254531,Subtype of disorder,Etiological subtype,Temple syndrome due to paternal 14q32.2 hypomethylation, +GARD:0017223,Orphanet,ORPHA:254534,Subtype of disorder,Etiological subtype,Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation, +GARD:0017224,Orphanet,ORPHA:254688,Subtype of disorder,Clinical subtype,Complete hydatidiform mole,Complete molar pregnancy +GARD:0017225,Orphanet,ORPHA:254803,Group of disorders,Clinical group,"Mitochondrial DNA depletion syndrome, encephalomyopathic form","mtDNA depletion syndrome, encephalomyopathic form" +GARD:0017226,Orphanet,ORPHA:254857,Disorder,Disease,Lethal infantile mitochondrial myopathy,LIMD|LIMM|Lethal infantile mitochondrial disease +GARD:0017227,Orphanet,ORPHA:254864,Disorder,Disease,Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,Benign COX deficiency|Infantile reversible cytochrome C oxidase deficiency myopathy|Mitochondrial myopathy with reversible COX deficiency|Mitochondrial myopathy with reversible complex IV deficiency|Reversible infantile cytochrome C oxidase deficiency|Reversible infantile respiratory chain deficiency +GARD:0017228,Orphanet,ORPHA:254875,Disorder,Disease,"Mitochondrial DNA depletion syndrome, myopathic form","mtDNA depletion syndrome, myopathic form" +GARD:0017229,Orphanet,ORPHA:254881,Disorder,Disease,Spinocerebellar ataxia with epilepsy,MSCAE|Mitochondrial spinocerebellar ataxia with epilepsy|SCAE +GARD:0017230,Orphanet,ORPHA:254898,Disorder,Disease,Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome +GARD:0017231,Orphanet,ORPHA:254902,Disorder,Disease,Renal tubulopathy-encephalopathy-liver failure syndrome, +GARD:0017232,Orphanet,ORPHA:254920,Disorder,Disease,Combined oxidative phosphorylation defect type 2,COXPD2 +GARD:0017233,Orphanet,ORPHA:254925,Disorder,Disease,Combined oxidative phosphorylation defect type 4,COXPD4 +GARD:0017234,Orphanet,ORPHA:254930,Disorder,Disease,Combined oxidative phosphorylation defect type 7,COXPD7|Severe C12ORF65-related COXPD|Severe C12ORF65-related combined oxidative phosphorylation defect +GARD:0017235,Orphanet,ORPHA:255132,Disorder,Disease,Adult-onset autosomal recessive sideroblastic anemia,GLRX5-related sideroblastic anemia +GARD:0017236,Orphanet,ORPHA:255138,Subtype of disorder,Clinical subtype,Pyruvate dehydrogenase E1-beta deficiency,PDHBD|Pyruvate dehydrogenase complex E1 component subunit beta deficiency +GARD:0017237,Orphanet,ORPHA:255182,Subtype of disorder,Clinical subtype,Pyruvate dehydrogenase E3-binding protein deficiency,2-oxoglutarate complex deficiency|Branched chain alpha-ketoacid dehydrogenase complex deficiency|Diaphorase deficiency|Dihydrolipoyl dehydrogenase deficiency|Glycine cleavage system L protein deficiency|Lipoamide dehydrogenase deficiency|Pyruvate dehydrogenase complex component E3 deficiency|Pyruvate dehydrogenase protein X component deficiency +GARD:0017238,Orphanet,ORPHA:255241,Disorder,Disease,Leigh syndrome with leukodystrophy,Infantile subacute necrotizing encephalopathy with leukodystrophy|Leigh disease with leukodystrophy +GARD:0017239,Orphanet,ORPHA:255249,Disorder,Disease,Leigh syndrome with nephrotic syndrome,Infantile subacute necrotizing encephalopathy with nephrotic syndrome|Leigh disease with nephrotic syndrome +GARD:0017240,Orphanet,ORPHA:260305,Disorder,Disease,Autosomal recessive sideroblastic anemia,ARSA|Congenital sideroblastic anemia +GARD:0017241,Orphanet,ORPHA:261120,Disorder,Malformation syndrome,14q11.2 microdeletion syndrome,Del(14)(q11.2)|Monosomy 14q11.2 +GARD:0017242,Orphanet,ORPHA:261190,Disorder,Malformation syndrome,15q14 microdeletion syndrome,Del(15)(q14)|Monosomy 15q14 +GARD:0017243,Orphanet,ORPHA:261211,Disorder,Malformation syndrome,16p11.2p12.2 microdeletion syndrome,Del(16)(p11.2p12.2)|Monosomy 16p11.2p12.2 +GARD:0017244,Orphanet,ORPHA:261222,Disorder,Malformation syndrome,Distal 16p11.2 microdeletion syndrome,Distal del(16)(p11.2)|Distal monosomy 16p11.2 +GARD:0017245,Orphanet,ORPHA:261330,Disorder,Malformation syndrome,Distal 22q11.2 microdeletion syndrome,Distal del(22)(q11.2)|Distal monosomy 22q11.2 +GARD:0017246,Orphanet,ORPHA:261476,Disorder,Disease,Xp21 deletion syndrome,Complex GKD|Complex glycerol kinase deficiency|Del(X)(p21)|Xp21 contiguous gene deletion syndrome|Xp21 microdeletion syndrome +GARD:0017247,Orphanet,ORPHA:261483,Disorder,Malformation syndrome,Xq27.3q28 duplication syndrome,Dup(X)(q27.3q28)|Trisomy Xq27.3-q28|Trisomy Xq27.3q28|Xq27.3-q28 microduplication syndrome +GARD:0017248,Orphanet,ORPHA:261537,Subtype of disorder,Etiological subtype,Mowat-Wilson syndrome due to monosomy 2q22,Hirschsprung disease and intellectual disability due to 2q22 microdeletion|Hirschsprung disease and intellectual disability due to del(2)(q22)|Hirschsprung disease and intellectual disability due to monosomy 2q22|Mowat-Wilson syndrome due to 2q22 microdeletion|Mowat-Wilson syndrome due to del(2)q(22) +GARD:0017249,Orphanet,ORPHA:261552,Subtype of disorder,Etiological subtype,Mowat-Wilson syndrome due to a ZEB2 point mutation,Hirschsprung disease and intellectual disability due to a ZEB2 point mutation +GARD:0017250,Orphanet,ORPHA:261600,Subtype of disorder,Etiological subtype,Alagille syndrome due to 20p12 microdeletion,Alagille syndrome due to del(20)(p12)|Alagille syndrome due to monosomy 20p12|Alagille-Watson syndrome due to monosomy 20p12|Arteriohepatic dysplasia due to monosomy 20p12|Syndromic bile duct paucity due to monosomy 20p12 +GARD:0017251,Orphanet,ORPHA:261619,Subtype of disorder,Etiological subtype,Alagille syndrome due to a JAG1 point mutation,Alagille-Watson syndrome due to a JAG1 point mutation|Arteriohepatic dysplasia due to a JAG1 point mutation|Syndromic bile duct paucity due to a JAG1 point mutation +GARD:0017252,Orphanet,ORPHA:261629,Subtype of disorder,Etiological subtype,Alagille syndrome due to a NOTCH2 point mutation,Alagille-Watson syndrome due to a NOTCH2 point mutation|Arteriohepatic dysplasia due to a NOTCH2 point mutation|Syndromic bile duct paucity due to a NOTCH2 point mutation +GARD:0017253,Orphanet,ORPHA:261652,Subtype of disorder,Etiological subtype,Kleefstra syndrome due to a point mutation, +GARD:0017254,Orphanet,ORPHA:263297,Disorder,Disease,Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,GSD type 15|GSD type XV|GSD with severe cardiomyopathy due to glycogenin deficiency|Glycogen storage disease type 15|Glycogen storage disease type XV|Glycogenosis type 15|Glycogenosis type XV|Glycogenosis with severe cardiomyopathy due to glycogenin deficiency +GARD:0017255,Orphanet,ORPHA:263347,Disorder,Disease,MRCS syndrome,Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome +GARD:0017256,Orphanet,ORPHA:263458,Disorder,Disease,Hyperinsulinism due to INSR deficiency,Hyperinsulinemic hypoglycemia due to INSR deficiency|Hyperinsulinemic hypoglycemia due to insulin receptor deficiency +GARD:0017257,Orphanet,ORPHA:263524,Disorder,Disease,Acute necrotizing encephalopathy of childhood,ANEC|Isolated ANE|Isolated acute necrotizing encephalopathy +GARD:0017258,Orphanet,ORPHA:263548,Subtype of disorder,Clinical subtype,Peeling skin syndrome type A,Generalized deciduous skin type A|Generalized peeling skin syndrome type A|Non-inflammatory generalized peeling skin syndrome type A.|Non-inflammatory peeling skin syndrome type A|PSS type A +GARD:0017259,Orphanet,ORPHA:263553,Subtype of disorder,Clinical subtype,Peeling skin syndrome type B,Generalized deciduous skin type B|Generalized peeling skin syndrome type B|Inflammatory peeling skin syndrome|PSS type B +GARD:0017260,Orphanet,ORPHA:263662,Disorder,Disease,Familial multiple meningioma, +GARD:0017261,Orphanet,ORPHA:264580,Disorder,Disease,Glycogen storage disease due to liver phosphorylase kinase deficiency,GSD due to liver phosphorylase kinase deficiency|GSD type 9A|GSD type 9C|GSD type IXa|GSD type IXc|Glycogen storage disease type 9A|Glycogen storage disease type 9C|Glycogen storage disease type IXa|Glycogen storage disease type IXc|Glycogenosis due to liver phosphorylase kinase deficiency|Glycogenosis type 9A|Glycogenosis type 9C|Glycogenosis type IXa|Glycogenosis type IXc|XLG +GARD:0017262,Orphanet,ORPHA:268114,Disorder,Disease,RAS-associated autoimmune leukoproliferative disease,RALD +GARD:0017263,Orphanet,ORPHA:268145,Subtype of disorder,Clinical subtype,Classic maple syrup urine disease,Classic BCKD deficiency|Classic MSUD|Classic branched-chain alpha-ketoacid dehydrogenase deficiency|Classic branched-chain ketoaciduria +GARD:0017264,Orphanet,ORPHA:268162,Subtype of disorder,Clinical subtype,Intermediate maple syrup urine disease,Intermediate BCKD deficiency|Intermediate MSUD|Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency +GARD:0017265,Orphanet,ORPHA:268173,Subtype of disorder,Clinical subtype,Intermittent maple syrup urine disease,Intermittent BCKD deficiency|Intermittent MSUD|Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency +GARD:0017266,Orphanet,ORPHA:268184,Subtype of disorder,Clinical subtype,Thiamine-responsive maple syrup urine disease,Thiamine-responsive BCKD deficiency|Thiamine-responsive MSUD|Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency +GARD:0017267,Orphanet,ORPHA:268322,Disorder,Disease,Hereditary thrombocytopenia with normal platelets, +GARD:0017268,Orphanet,ORPHA:268357,Group of disorders,Category,Neural tube closure defect, +GARD:0017269,Orphanet,ORPHA:268940,Disorder,Morphological anomaly,Bilateral polymicrogyria, +GARD:0017270,Orphanet,ORPHA:269001,Subtype of disorder,Histopathological subtype,Isolated focal cortical dysplasia type IIa,FCD type IIa +GARD:0017271,Orphanet,ORPHA:269008,Subtype of disorder,Histopathological subtype,Isolated focal cortical dysplasia type IIb,FCD type IIb +GARD:0017272,Orphanet,ORPHA:269510,Subtype of disorder,Clinical subtype,Congenital non-communicating hydrocephalus,Congenital obstructive hydrocephalus +GARD:0017273,Orphanet,ORPHA:275872,Disorder,Disease,Frontotemporal dementia with motor neuron disease,FTD-ALS|FTD-MND|Frontotemporal dementia with amyotrophic lateral sclerosis +GARD:0017274,Orphanet,ORPHA:276148,Disorder,Disease,Benign epithelial tumor of salivary glands, +GARD:0017275,Orphanet,ORPHA:276152,Disorder,Disease,Multiple endocrine neoplasia type 4,MEN4 +GARD:0017276,Orphanet,ORPHA:276183,Disorder,Disease,Spinocerebellar ataxia type 32,Cerebellar ataxia with azoospermia and intellectual disability|SCA32 +GARD:0017277,Orphanet,ORPHA:276234,Disorder,Disease,Non-syndromic male infertility due to sperm motility disorder,Non-syndromic male infertility due asthenozoospermia +GARD:0017278,Orphanet,ORPHA:276399,Disorder,Disease,Familial multinodular goiter,FMNG|Familial MNG|Familial multinodular goiter syndrome +GARD:0017279,Orphanet,ORPHA:276405,Disorder,Disease,Hyperbiliverdinemia,Green jaundice +GARD:0017280,Orphanet,ORPHA:276413,Disorder,Malformation syndrome,10q22.3q23.3 microdeletion syndrome,Del(10)(q22.3q23.3)|Deletion 10q22.3q23.3|Monosomy 10q22.3q23.3 +GARD:0017281,Orphanet,ORPHA:276432,Disorder,Malformation syndrome,Ogden syndrome,Premature aging appearance-developmental delay-cardiac arrhythmia syndrome +GARD:0017282,Orphanet,ORPHA:276435,Disorder,Disease,Lower motor neuron syndrome with late-adult onset,"LOSMoN|Late-onset spinal motor neuronopathy|SMAJ|Spinal muscular atrophy, Jokela type" +GARD:0017283,Orphanet,ORPHA:276575,Disorder,Disease,Autosomal dominant hyperinsulinism due to SUR1 deficiency,Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency +GARD:0017284,Orphanet,ORPHA:276580,Disorder,Disease,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency|Dominant KATP hyperinsulinism due to Kir6.2 deficiency +GARD:0017285,Orphanet,ORPHA:276598,Disorder,Disease,Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,"Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form" +GARD:0017286,Orphanet,ORPHA:276603,Disorder,Disease,Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,"Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form" +GARD:0017287,Orphanet,ORPHA:279943,Disorder,Disease,Hereditary neutrophilia, +GARD:0017288,Orphanet,ORPHA:280142,Disorder,Disease,Severe combined immunodeficiency due to LCK deficiency,SCID due to LCK deficiency|SCID due to lymphocyte-specific protein tyrosine kinase deficiency|Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency +GARD:0017289,Orphanet,ORPHA:280195,Subtype of disorder,Clinical subtype,Septopreoptic holoprosencephaly,Septopreoptic HPE +GARD:0017290,Orphanet,ORPHA:280200,Disorder,Malformation syndrome,Microform holoprosencephaly,"HPE, minor form|HPE-L|Holoprosencephaly, minor form|Holoprosencephaly-like|Microform HPE" +GARD:0017291,Orphanet,ORPHA:280210,Subtype of disorder,Clinical subtype,"Pelizaeus-Merzbacher disease, connatal form",Connatal PMD|Pelizaeus-Merzbacher disease type II|Severe PMD +GARD:0017292,Orphanet,ORPHA:280234,Subtype of disorder,Clinical subtype,Null syndrome,"PLP1 null syndrome|Pelizaeus-Merzbacher disease, null syndrome" +GARD:0017293,Orphanet,ORPHA:280282,Subtype of disorder,Clinical subtype,Pelizaeus-Merzbacher-like disease due to GJC2 mutation,PMLD1 +GARD:0017294,Orphanet,ORPHA:280288,Subtype of disorder,Clinical subtype,Pelizaeus-Merzbacher-like disease due to HSPD1 mutation,Mitochondrial HSP60 chaperonopathy +GARD:0017295,Orphanet,ORPHA:280406,Disorder,Disease,Familial steroid-resistant nephrotic syndrome with sensorineural deafness,Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss +GARD:0017296,Orphanet,ORPHA:280553,Disorder,Disease,Fatal infantile hypertonic myofibrillar myopathy, +GARD:0017297,Orphanet,ORPHA:280615,Disorder,Disease,Hemoglobinopathy Toms River,Transient neonatal cyanosis and anemia due to Toms River Hemoglobin +GARD:0017298,Orphanet,ORPHA:280628,Disorder,Disease,Familial progressive hyper- and hypopigmentation,FPHH +GARD:0017299,Orphanet,ORPHA:280640,Disorder,Malformation syndrome,Occipital pachygyria and polymicrogyria,Occipital MCD|Occipital malformations of cortical development +GARD:0017300,Orphanet,ORPHA:280651,Disorder,Disease,Acrodysostosis with multiple hormone resistance, +GARD:0017301,Orphanet,ORPHA:280679,Disorder,Disease,Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism +GARD:0017302,Orphanet,ORPHA:281090,Disorder,Disease,Syndromic recessive X-linked ichthyosis,Recessive X-linked ichthyosis with extracutaneous manifestations|Syndromic RXLI +GARD:0017303,Orphanet,ORPHA:281122,Disorder,Disease,Self-improving collodion baby,SHCB|SICI|Self-healing collodion baby|Self-improving congenital ichthyosis +GARD:0017304,Orphanet,ORPHA:281139,Disorder,Disease,Annular epidermolytic ichthyosis,AEI +GARD:0017305,Orphanet,ORPHA:281190,Disorder,Disease,Congenital reticular ichthyosiform erythroderma,CRIE|IWC|Ichthyosis variegata|Ichthyosis with confetti +GARD:0017306,Orphanet,ORPHA:281201,Disorder,Disease,Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,KLICK syndrome +GARD:0017307,Orphanet,ORPHA:282166,Disorder,Disease,Inherited Creutzfeldt-Jakob disease,Inherited CJD +GARD:0017308,Orphanet,ORPHA:284139,Disorder,Malformation syndrome,"Larsen-like syndrome, B3GAT3 type",Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome +GARD:0017309,Orphanet,ORPHA:284149,Disorder,Malformation syndrome,Craniosynostosis-dental anomalies,Kreiborg-Pakistani syndrome +GARD:0017310,Orphanet,ORPHA:284160,Disorder,Malformation syndrome,8q21.11 microdeletion syndrome,Del(8)(q21.11)|Deletion 8q21.11|Monosomy 8q21.11 +GARD:0017311,Orphanet,ORPHA:284169,Subtype of disorder,Clinical subtype,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,10p12p11 microdeletion syndrome|Del(10)(p11.21p12.31)|Deletion 10p11.21p12.31|Monosomy 10p11.21p12.31 +GARD:0017312,Orphanet,ORPHA:284271,Disorder,Disease,Autosomal recessive cerebellar ataxia-psychomotor delay syndrome,Autosomal recessive spinocerebellar ataxia type 11|SCAR11 +GARD:0017313,Orphanet,ORPHA:284282,Disorder,Disease,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,Autosomal recessive spinocerebellar ataxia type 12|SCAR12 +GARD:0017314,Orphanet,ORPHA:284289,Disorder,Disease,Adult-onset autosomal recessive cerebellar ataxia,Autosomal recessive spinocerebellar ataxia type 10|SCAR10 +GARD:0017315,Orphanet,ORPHA:284339,Disorder,Malformation syndrome,Pontocerebellar hypoplasia type 7,"PCH7|Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome" +GARD:0017316,Orphanet,ORPHA:284411,Subtype of disorder,Clinical subtype,"Glycerol kinase deficiency, juvenile form", +GARD:0017317,Orphanet,ORPHA:284414,Subtype of disorder,Clinical subtype,"Glycerol kinase deficiency, adult form", +GARD:0017318,Orphanet,ORPHA:284973,Subtype of disorder,Clinical subtype,Marfan syndrome type 2,MFS2 +GARD:0017319,Orphanet,ORPHA:289157,Disorder,Disease,Hypocalcemic vitamin D-dependent rickets,1-alpha-hydroxylase deficiency|PDDRI|Pseudovitamin D-deficient rickets|VDDI|VDDR-I|Vitamin D dependent rickets type I|Vitamin D-dependency type I +GARD:0017320,Orphanet,ORPHA:289176,Disorder,Disease,Autosomal recessive hypophosphatemic rickets,ARHR +GARD:0017321,Orphanet,ORPHA:289290,Disorder,Disease,Hypermethioninemia encephalopathy due to adenosine kinase deficiency,ADK hypermethioninemia|Hypermethioninemia encephalopathy due to ADK deficiency +GARD:0017322,Orphanet,ORPHA:289307,Disorder,Disease,Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,Developmental delay due to ALDH6A1 deficiency|Developmental delay due to MMSDH deficiency +GARD:0017323,Orphanet,ORPHA:289365,Disorder,Malformation syndrome,Familial vesicoureteral reflux,Familial VUR +GARD:0017324,Orphanet,ORPHA:289377,Disorder,Disease,Early-onset myopathy with fatal cardiomyopathy,EOMFC|Salih myopathy +GARD:0017325,Orphanet,ORPHA:289380,Disorder,Disease,Myosclerosis,"Congenital myosclerosis, Löwenthal type" +GARD:0017326,Orphanet,ORPHA:289483,Disorder,Disease,Intellectual disability-alacrima-achalasia syndrome, +GARD:0017327,Orphanet,ORPHA:289499,Disorder,Malformation syndrome,Congenital cataract microcornea with corneal opacity,CCMCO +GARD:0017328,Orphanet,ORPHA:289553,Disorder,Malformation syndrome,Dysmorphism-conductive hearing loss-heart defect syndrome, +GARD:0017329,Orphanet,ORPHA:289586,Disorder,Disease,Exfoliative ichthyosis,Autosomal recessive exfoliative ichthyosis|Ichthyosis exfoliativa +GARD:0017330,Orphanet,ORPHA:289846,Subtype of disorder,Clinical subtype,Glutathione synthetase deficiency with 5-oxoprolinuria, +GARD:0017331,Orphanet,ORPHA:289849,Subtype of disorder,Clinical subtype,Glutathione synthetase deficiency without 5-oxoprolinuria, +GARD:0017332,Orphanet,ORPHA:289857,Subtype of disorder,Clinical subtype,Neonatal glycine encephalopathy,Classic glycine encephalopathy|Neonatal NKH|Neonatal non-ketotic hyperglycinemia +GARD:0017333,Orphanet,ORPHA:289860,Subtype of disorder,Clinical subtype,Infantile glycine encephalopathy,Infantile NKH|Infantile non-ketotic hyperglycinemia +GARD:0017334,Orphanet,ORPHA:289863,Subtype of disorder,Clinical subtype,Atypical glycine encephalopathy,Atypical NKA|Atypical non-ketotic hyperglycinemia +GARD:0017335,Orphanet,ORPHA:289916,Subtype of disorder,Clinical subtype,Vitamin B12-unresponsive methylmalonic acidemia type mut0,Complete deficiency of methylmalonyl-CoA mutase|Vitamin B12-unresponsive methylmalonic aciduria type mut0 +GARD:0017336,Orphanet,ORPHA:293144,Subtype of disorder,Etiological subtype,Familial clubfoot due to 5q31 microdeletion,Hereditary clubfoot due to 5q31 microdeletion +GARD:0017337,Orphanet,ORPHA:293150,Subtype of disorder,Etiological subtype,Familial clubfoot due to PITX1 point mutation,Hereditary clubfoot due to PITX1 point mutation +GARD:0017338,Orphanet,ORPHA:293381,Disorder,Disease,Epithelial recurrent erosion dystrophy,Dystrophia Helsinglandica|Dystrophia Smolandiensis|ERED|Recurrent hereditary corneal erosions +GARD:0017339,Orphanet,ORPHA:293621,Disorder,Disease,X-linked endothelial corneal dystrophy,XECD +GARD:0017340,Orphanet,ORPHA:293633,Subtype of disorder,Etiological subtype,PYCR1-related De Barsy syndrome,PYCR1 deficiency|Pyrroline-5-carboxylate reductase 1 deficiency +GARD:0017341,Orphanet,ORPHA:293707,Disorder,Malformation syndrome,"Blepharophimosis-intellectual disability syndrome, MKB type","BMRS, MKB type|BMRS, Maat-Kievit-Brunner type|Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type|X-linked Ohdo syndrome" +GARD:0017342,Orphanet,ORPHA:293725,Disorder,Malformation syndrome,"Blepharophimosis-intellectual disability syndrome, Verloes type","BMRS type V|BMRS, Verloes type|Blepharophimosis-intellectual disability syndrome type V" +GARD:0017343,Orphanet,ORPHA:293822,Disorder,Disease,MITF-related melanoma and renal cell carcinoma predisposition syndrome, +GARD:0017344,Orphanet,ORPHA:293825,Disorder,Disease,Congenital dyserythropoietic anemia type IV,CDA IV|CDA due to KLF1 mutation|CDA type 4|CDA type IV|CDAN4|Congenital dyserythropoietic anemia due to KLF1 mutation|Congenital dyserythropoietic anemia type 4 +GARD:0017345,Orphanet,ORPHA:293888,Subtype of disorder,Clinical subtype,"Familial isolated arrhythmogenic ventricular dysplasia, left dominant form","Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form" +GARD:0017346,Orphanet,ORPHA:293899,Subtype of disorder,Clinical subtype,"Familial isolated arrhythmogenic ventricular dysplasia, biventricular form","Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form" +GARD:0017347,Orphanet,ORPHA:293910,Subtype of disorder,Clinical subtype,"Familial isolated arrhythmogenic ventricular dysplasia, right dominant form","Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form|Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form|Familial isolated arrhythmogenic ventricular dysplasia, classic form" +GARD:0017348,Orphanet,ORPHA:293925,Disorder,Malformation syndrome,Lethal occipital encephalocele-skeletal dysplasia syndrome, +GARD:0017349,Orphanet,ORPHA:293936,Disorder,Disease,EDICT syndrome,Autosomal dominant keratoconus with early-onset anterior polar cataracts|Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome|Familial keratoconus with cataract|KTCNCT +GARD:0017350,Orphanet,ORPHA:293939,Disorder,Malformation syndrome,Distal Xq28 microduplication syndrome,Distal dup(X)q(28)|Distal trisomy Xq28|Int22h1/Int22h2 mediated-Xq28 microduplication syndrome +GARD:0017351,Orphanet,ORPHA:293958,Disorder,Malformation syndrome,Hypertelorism-preauricular sinus-punctual pits-deafness syndrome,HPPD|Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome +GARD:0017352,Orphanet,ORPHA:293964,Disorder,Disease,Hypoinsulinemic hypoglycemia and body hemihypertrophy, +GARD:0017353,Orphanet,ORPHA:293978,Disorder,Disease,Deficiency in anterior pituitary function-variable immunodeficiency syndrome,DAVID syndrome +GARD:0017354,Orphanet,ORPHA:294016,Disorder,Malformation syndrome,Microcephaly-capillary malformation syndrome,MIC-CAP syndrome|MIC-CM syndrome|Microcephaly-cutaneous capillary malformation syndrome +GARD:0017355,Orphanet,ORPHA:294023,Disorder,Disease,Neonatal inflammatory skin and bowel disease, +GARD:0017356,Orphanet,ORPHA:294415,Disorder,Malformation syndrome,Renal-hepatic-pancreatic dysplasia,Ivemark II syndrome|Renohepaticopancreatic dysplasia +GARD:0017357,Orphanet,ORPHA:295187,Subtype of disorder,Clinical subtype,Zygodactyly type 1,"SD1, Weidenreich type|SD1a|Syndactyly type 1, Weidenreich type|Syndactyly type 1a|Zygodactyly, Weidenreich type" +GARD:0017358,Orphanet,ORPHA:295195,Subtype of disorder,Clinical subtype,Synpolydactyly type 1,"SD2, Vordingborg type|SD2a|SPD, Vordingborg type|SPD1|Synpolydactyly, Vordingborg type" +GARD:0017359,Orphanet,ORPHA:295197,Subtype of disorder,Clinical subtype,Synpolydactyly type 2,"SD2, Debeer type|SD2b|SPD, Debeer type|SPD2|Synpolydactyly, Debeer type" +GARD:0017360,Orphanet,ORPHA:295199,Subtype of disorder,Clinical subtype,Synpolydactyly type 3,"SD2, Malik type|SD2c|SPD, Malik type|SPD3|Synpolydactyly, Malik type" +GARD:0017361,Orphanet,ORPHA:300179,Subtype of disorder,Clinical subtype,Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,"Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness|Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss|FKBP14-related EDS|FKBP22-deficient EDS|Kyphoscoliotic EDS due to FKBP22 deficiency|kEDS-FKBP14" +GARD:0017362,Orphanet,ORPHA:300284,Disorder,Disease,Connective tissue disorder due to lysyl hydroxylase-3 deficiency,Bone fragility-contractures-arterial rupture-deafness syndrome|Bone fragility-contractures-arterial rupture-hearing loss syndrome|Connective tissue disorder due to LH3 deficiency +GARD:0017363,Orphanet,ORPHA:300293,Disorder,Disease,Transient infantile hypertriglyceridemia and hepatosteatosis,Transient infantile hypertriglyceridemia and fatty liver +GARD:0017364,Orphanet,ORPHA:300298,Disorder,Disease,Severe congenital hypochromic anemia with ringed sideroblasts,Severe congenital hypochromic sideroblastic anemia +GARD:0017365,Orphanet,ORPHA:300313,Disorder,Disease,Congenital cataract-hearing loss-severe developmental delay syndrome,Congenital cataract-deafness-severe developmental delay syndrome|Huppke-Brendel syndrome|Lethal neurodegenerative disorder due to copper transport defect +GARD:0017366,Orphanet,ORPHA:300324,Disorder,Disease,Persistent polyclonal B-cell lymphocytosis,PPBL|Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes +GARD:0017367,Orphanet,ORPHA:300333,Disorder,Disease,Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome,EBS with nephropathy|Epidermolysis bullosa simplex with nephropathy|Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome +GARD:0017368,Orphanet,ORPHA:300345,Disorder,Disease,Autosomal systemic lupus erythematosus,Autosomal SLE|Familial SLE|Familial systemic lupus erythematosus +GARD:0017369,Orphanet,ORPHA:300359,Disorder,Disease,PLCG2-associated antibody deficiency and immune dysregulation,FACU|Familial atypical cold urticaria|Familial cold urticaria with common variable immunodeficiency|PLAID +GARD:0017370,Orphanet,ORPHA:300373,Disorder,Disease,X-linked acrogigantism,Familial infantile gigantism|Hereditary infantile gigantism|Hereditary pituitary hyperplasia|Infantile gigantism due to pituitary hyperplasia|X-LAG +GARD:0017371,Orphanet,ORPHA:300382,Disorder,Disease,Progeroid and marfanoid aspect-lipodystrophy syndrome, +GARD:0017372,Orphanet,ORPHA:300525,Subtype of disorder,Etiological subtype,Pseudohypoaldosteronism type 2D,PHA2D +GARD:0017373,Orphanet,ORPHA:300530,Subtype of disorder,Etiological subtype,Pseudohypoaldosteronism type 2E,PHA2E +GARD:0017374,Orphanet,ORPHA:300547,Disorder,Disease,Autosomal recessive infantile hypercalcemia,Familial infantile hypercalcemia with suppressed intact parathyroid hormone +GARD:0017375,Orphanet,ORPHA:300573,Disorder,Malformation syndrome,Polymicrogyria due to TUBB2B mutation, +GARD:0017376,Orphanet,ORPHA:300576,Disorder,Disease,Oligodontia-cancer predisposition syndrome,Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome +GARD:0017377,Orphanet,ORPHA:306504,Disorder,Disease,Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome,ILNEB syndrome|JEB with interstitial lung disease and nephrotic syndrome|Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome +GARD:0017378,Orphanet,ORPHA:306511,Disorder,Disease,Autosomal recessive spastic paraplegia type 48,SPG48 +GARD:0017379,Orphanet,ORPHA:306530,Disorder,Morphological anomaly,Congenital hereditary facial paralysis-variable hearing loss syndrome,Congenital hereditary facial palsy with variable deafness|Congenital hereditary facial palsy with variable hearing loss|Congenital hereditary facial paralysis with variable deafness|Congenital hereditary facial paralysis-variable deafness syndrome +GARD:0017380,Orphanet,ORPHA:306547,Disorder,Malformation syndrome,Porencephaly-microcephaly-bilateral congenital cataract syndrome, +GARD:0017381,Orphanet,ORPHA:306558,Disorder,Disease,Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, +GARD:0017382,Orphanet,ORPHA:306577,Disorder,Disease,Sodium channelopathy-related small fiber neuropathy, +GARD:0017383,Orphanet,ORPHA:306734,Disorder,Disease,"Primary dystonia, DYT21 type",DYT21 +GARD:0017384,Orphanet,ORPHA:307936,Disorder,Disease,Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,HOPP syndrome|Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome|Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome|Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome +GARD:0017385,Orphanet,ORPHA:308380,Subtype of disorder,Clinical subtype,Methylcobalamin deficiency type cblDv1,Functional methionine synthase deficiency type cblDv1 +GARD:0017386,Orphanet,ORPHA:308386,Subtype of disorder,Etiological subtype,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,"Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A|MOCOD type A" +GARD:0017387,Orphanet,ORPHA:308393,Subtype of disorder,Etiological subtype,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B,"Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B|MOCOD type B" +GARD:0017388,Orphanet,ORPHA:308400,Subtype of disorder,Etiological subtype,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,"Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C|MOCOD type C" +GARD:0017389,Orphanet,ORPHA:308410,Disorder,Disease,Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency, +GARD:0017390,Orphanet,ORPHA:308425,Disorder,Disease,Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,MCEE deficiency|Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency|Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency|Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency +GARD:0017391,Orphanet,ORPHA:308442,Subtype of disorder,Clinical subtype,"Vitamin B12-responsive methylmalonic acidemia, type cblDv2","Vitamin B12-responsive methylmalonic aciduria, type cblDv2" +GARD:0017392,Orphanet,ORPHA:308473,Subtype of disorder,Clinical subtype,Erythrocyte galactose epimerase deficiency,Erythrocyte GALE deficiency|Erythrocyte GALE-D|Erythrocyte UDP-galactose-4-epimerase deficiency|Erythrocyte epimerase deficiency galactosemia|Erythrocyte uridine diphosphate galactose-4-epimerase deficiency +GARD:0017393,Orphanet,ORPHA:308487,Subtype of disorder,Clinical subtype,Generalized galactose epimerase deficiency,Generalized GALE deficiency|Generalized GALE-D|Generalized UDP-galactose-4-epimerase deficiency|Generalized epimerase deficiency galactosemia|Generalized uridine diphosphate galactose-4-epimerase deficiency +GARD:0017394,Orphanet,ORPHA:308621,Subtype of disorder,Clinical subtype,"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form","GBE deficiency, progressive hepatic form|GSD due to glycogen branching enzyme deficiency, progressive hepatic form|GSD type 4, progressive hepatic form|GSDIV, progressive hepatic form|Glycogen storage disease type 4, progressive hepatic form|Glycogen storage disease type IV, progressive hepatic form|Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form|Glycogenosis type 4, progressive hepatic form|Glycogenosis type IV, progressive hepatic form" +GARD:0017395,Orphanet,ORPHA:308638,Subtype of disorder,Clinical subtype,"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form","GBE deficiency, non progressive hepatic form|GSD due to glycogen branching enzyme deficiency, non progressive hepatic form|GSD type 4, non progressive hepatic form|GSDIV, non progressive hepatic form|Glycogen storage disease type 4, non progressive hepatic form|Glycogen storage disease type IV, non progressive hepatic form|Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form|Glycogenosis type 4, non progressive hepatic form|Glycogenosis type IV, non progressive hepatic form" +GARD:0017396,Orphanet,ORPHA:308655,Subtype of disorder,Clinical subtype,"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","GBE deficiency, fatal perinatal neuromuscular form|GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|GSD type 4, fatal perinatal neuromuscular form|GSDIV, fatal perinatal neuromuscular form|Glycogen storage disease type 4, fatal perinatal neuromuscular form|Glycogen storage disease type IV, fatal perinatal neuromuscular form|Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|Glycogenosis type 4, fatal perinatal neuromuscular form|Glycogenosis type IV, fatal perinatal neuromuscular form" +GARD:0017397,Orphanet,ORPHA:308670,Subtype of disorder,Clinical subtype,"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form","GBE deficiency, congenital neuromuscular form|GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form|GSD type 4, congenital neuromuscular form|GSDIV, congenital neuromuscular form|Glycogen storage disease type 4, congenital neuromuscular form|Glycogen storage disease type IV, congenital neuromuscular form|Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form|Glycogenosis type 4, congenital neuromuscular form|Glycogenosis type IV, congenital neuromuscular form" +GARD:0017398,Orphanet,ORPHA:308684,Subtype of disorder,Clinical subtype,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form","GBE deficiency, childhood combined hepatic and myopathic form|GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|GSD type 4, childhood combined hepatic and myopathic form|GSDIV, childhood combined hepatic and myopathic form|Glycogen storage disease type 4, childhood combined hepatic and myopathic form|Glycogen storage disease type IV, childhood combined hepatic and myopathic form|Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|Glycogenosis type 4, childhood combined hepatic and myopathic form|Glycogenosis type IV, childhood combined hepatic and myopathic form" +GARD:0017399,Orphanet,ORPHA:308698,Subtype of disorder,Clinical subtype,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form","GBE deficiency, childhood neuromuscular form|GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form|GSD type 4, childhood neuromuscular form|GSDIV, childhood neuromuscular form|Glycogen storage disease type 4, childhood neuromuscular form|Glycogen storage disease type IV, childhood neuromuscular form|Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form|Glycogenosis type 4, childhood neuromuscular form|Glycogenosis type IV, childhood neuromuscular form" +GARD:0017400,Orphanet,ORPHA:308712,Subtype of disorder,Clinical subtype,"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form","GBE deficiency, adult neuromuscular form|GSD due to glycogen branching enzyme deficiency, adult neuromuscular form|GSD type 4, adult neuromuscular form|GSDIV, adult neuromuscular form|Glycogen storage disease type 4, adult neuromuscular form|Glycogen storage disease type IV, adult neuromuscular form|Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form|Glycogenosis type 4, adult neuromuscular form|Glycogenosis type IV, adult neuromuscular form" +GARD:0017401,Orphanet,ORPHA:309031,Disorder,Disease,Pancreatic triacylglycerol lipase deficiency,Pancreatic triglyceride lipase deficiency +GARD:0017402,Orphanet,ORPHA:309108,Disorder,Disease,Pancreatic colipase deficiency, +GARD:0017403,Orphanet,ORPHA:309111,Disorder,Disease,Combined pancreatic lipase-colipase deficiency, +GARD:0017404,Orphanet,ORPHA:309162,Subtype of disorder,Clinical subtype,"Sandhoff disease, juvenile form","Hexosaminidases A and B deficiency, juvenile form|Juvenile GM2 gangliosidosis 0 variant" +GARD:0017405,Orphanet,ORPHA:309169,Subtype of disorder,Clinical subtype,"Sandhoff disease, adult form","Adult GM2 gangliosidosis 0 variant|Hexosaminidases A and B deficiency, adult form" +GARD:0017406,Orphanet,ORPHA:309246,Disorder,Disease,"GM2 gangliosidosis, AB variant",Hexosaminidase activator deficiency +GARD:0017407,Orphanet,ORPHA:309282,Subtype of disorder,Clinical subtype,"Alpha-mannosidosis, infantile form","Lysosomal alpha-D-mannosidase deficiency, infantile form" +GARD:0017408,Orphanet,ORPHA:309288,Subtype of disorder,Clinical subtype,"Alpha-mannosidosis, adult form","Lysosomal alpha-D-mannosidase deficiency, adult form" +GARD:0017409,Orphanet,ORPHA:313772,Disorder,Disease,Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome|Autosomal recessive spastic ataxia type 5|SPAX5 +GARD:0017410,Orphanet,ORPHA:313795,Disorder,Malformation syndrome,Jawad syndrome, +GARD:0017411,Orphanet,ORPHA:313800,Disorder,Disease,Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome,Optic nerve edema-splenomegaly syndrome|ROSAH syndrome +GARD:0017412,Orphanet,ORPHA:313838,Disorder,Disease,Coats plus syndrome,CRMCC|Cerebroretinal microangiopathy with calcifications and cysts +GARD:0017413,Orphanet,ORPHA:313846,Disorder,Disease,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome, +GARD:0017414,Orphanet,ORPHA:313884,Subtype of disorder,Clinical subtype,12p12.1 microdeletion syndrome,Del(12)(p12.1)|Monosomy 12p12.1 +GARD:0017415,Orphanet,ORPHA:313892,Subtype of disorder,Clinical subtype,Developmental and speech delay due to SOX5 deficiency, +GARD:0017416,Orphanet,ORPHA:314022,Disorder,Disease,Gastric adenocarcinoma and proximal polyposis of the stomach,Familial fundic gland polyposis with gastric cancer|GAPPS +GARD:0017417,Orphanet,ORPHA:314373,Disorder,Disease,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity, +GARD:0017418,Orphanet,ORPHA:314376,Disorder,Disease,Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,Meconium ileus due to guanylate cyclase 2C deficiency +GARD:0017419,Orphanet,ORPHA:314394,Disorder,Disease,Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,SOFT syndrome +GARD:0017420,Orphanet,ORPHA:314399,Disorder,Disease,Autosomal dominant aplasia and myelodysplasia,Autosomal dominant aplastic anemia and myelodysplasia +GARD:0017421,Orphanet,ORPHA:314485,Disorder,Disease,Young adult-onset distal hereditary motor neuropathy,Autosomal recessive distal spinal muscular atrophy type 5|Young adult-onset dHMN|dSMA5 +GARD:0017422,Orphanet,ORPHA:314555,Disorder,Malformation syndrome,Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome,Hamamy syndrome +GARD:0017423,Orphanet,ORPHA:314585,Disorder,Malformation syndrome,15q overgrowth syndrome, +GARD:0017424,Orphanet,ORPHA:314588,Subtype of disorder,Etiological subtype,Distal tetrasomy 15q,Tetrasomy 15(q25-qter)|Tetrasomy 15q26 +GARD:0017425,Orphanet,ORPHA:314603,Disorder,Disease,Autosomal recessive spastic ataxia with leukoencephalopathy,ARSAL|Autosomal recessive spastic ataxia type 3|SPAX3 +GARD:0017426,Orphanet,ORPHA:314629,Subtype of disorder,Etiological subtype,CLN11 disease, +GARD:0017427,Orphanet,ORPHA:314632,Disorder,Disease,ATP13A2-related juvenile neuronal ceroid lipofuscinosis,CLN12 disease|Juvenile parkinsonism-neuronal ceroid lipofuscinosis +GARD:0017428,Orphanet,ORPHA:314637,Disorder,Disease,Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,COXPD10|Combined oxidative phosphorylation defect type 10 +GARD:0017429,Orphanet,ORPHA:314647,Disorder,Disease,Non-progressive cerebellar ataxia with intellectual disability, +GARD:0017430,Orphanet,ORPHA:314689,Disorder,Disease,Combined immunodeficiency due to STK4 deficiency,CID due to STK4 deficiency +GARD:0017431,Orphanet,ORPHA:314701,Subtype of disorder,Clinical subtype,Primary systemic amyloidosis,Systemic AL amyloidosis +GARD:0017432,Orphanet,ORPHA:314718,Disorder,Disease,Lethal arteriopathy syndrome due to fibulin-4 deficiency, +GARD:0017433,Orphanet,ORPHA:314721,Subtype of disorder,Clinical subtype,Atypical dentin dysplasia due to SMOC2 deficiency,Dentin dysplasia type 1 with microdontia and shape anomalies +GARD:0017434,Orphanet,ORPHA:314795,Disorder,Disease,SHOX-related short stature, +GARD:0017435,Orphanet,ORPHA:314802,Disorder,Disease,Short stature due to partial GHR deficiency,Short stature due to partial growth hormone receptor deficiency +GARD:0017436,Orphanet,ORPHA:314811,Disorder,Disease,Short stature due to GHSR deficiency,Ghrelin receptor deficiency|Short stature due to growth hormone secretagogue receptor deficiency +GARD:0017437,Orphanet,ORPHA:314911,Subtype of disorder,Clinical subtype,Severe Canavan disease,Infantile Canavan disease|Neonatal Canavan disease +GARD:0017438,Orphanet,ORPHA:314918,Subtype of disorder,Clinical subtype,Mild Canavan disease,Juvenile Canavan disease +GARD:0017439,Orphanet,ORPHA:314978,Disorder,Disease,X-linked non progressive cerebellar ataxia, +GARD:0017440,Orphanet,ORPHA:314993,Disorder,Malformation syndrome,Cataract-congenital heart disease-neural tube defect syndrome, +GARD:0017441,Orphanet,ORPHA:317425,Disorder,Disease,Severe combined immunodeficiency due to DNA-PKcs deficiency,SCID due to DNA-PKcs deficiency +GARD:0017442,Orphanet,ORPHA:317473,Disorder,Disease,Pancytopenia due to IKZF1 mutations,CID due to IKAROS deficiency|Combined immunodeficiency due to IKAROS deficiency +GARD:0017443,Orphanet,ORPHA:319160,Disorder,Disease,Congenital myopathy with internal nuclei and atypical cores,CNM4|Centronuclear myopathy type 4 +GARD:0017444,Orphanet,ORPHA:319189,Disorder,Disease,Familial cortical myoclonus, +GARD:0017445,Orphanet,ORPHA:319199,Disorder,Disease,Autosomal recessive spastic paraplegia type 53,SPG53 +GARD:0017446,Orphanet,ORPHA:319308,Disorder,Disease,MiT family translocation renal cell carcinoma,Carcinoma associated with MITF/TFE translocation|Translocation renal cell carcinoma +GARD:0017447,Orphanet,ORPHA:319332,Disorder,Disease,Autosomal recessive myogenic arthrogryposis multiplex congenita,Autosomal recessive myogenic AMC|SYNE1-related AMC|SYNE1-related arthrogryposis multiplex congenita +GARD:0017448,Orphanet,ORPHA:319340,Disorder,Disease,Carney complex-trismus-pseudocamptodactyly syndrome,Carney complex variant +GARD:0017449,Orphanet,ORPHA:319462,Disorder,Disease,Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations, +GARD:0017450,Orphanet,ORPHA:319465,Disorder,Disease,Inherited acute myeloid leukemia,Familial AML|Inherited AML|Pure familial AML|Pure familial acute myeloid leukemia +GARD:0017451,Orphanet,ORPHA:319480,Disorder,Disease,Acute myeloid leukemia with CEBPA somatic mutations,AML with CEBPA somatic mutations +GARD:0017452,Orphanet,ORPHA:319504,Disorder,Disease,Combined oxidative phosphorylation defect type 8,COXPD8 +GARD:0017453,Orphanet,ORPHA:319509,Disorder,Disease,Combined oxidative phosphorylation defect type 9,COXPD9 +GARD:0017454,Orphanet,ORPHA:319514,Disorder,Disease,Combined oxidative phosphorylation defect type 13,COXPD13 +GARD:0017455,Orphanet,ORPHA:319519,Disorder,Disease,Combined oxidative phosphorylation defect type 14,COXPD14 +GARD:0017456,Orphanet,ORPHA:319524,Disorder,Disease,Combined oxidative phosphorylation defect type 15,COXPD15 +GARD:0017457,Orphanet,ORPHA:319547,Disorder,Disease,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,MSMD due to complete IFNgammaR2 deficiency|MSMD due to complete interferon gamma receptor 2 deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency +GARD:0017458,Orphanet,ORPHA:319563,Disorder,Disease,Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,MSMD due to complete ISG15 deficiency +GARD:0017459,Orphanet,ORPHA:319569,Disorder,Disease,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Autosomal recessive MSMD due to partial IFNgammaR1 deficiency|Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency|Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency +GARD:0017460,Orphanet,ORPHA:319574,Disorder,Disease,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Autosomal recessive MSMD due to partial IFNgammaR2 deficiency|Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency|Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency +GARD:0017461,Orphanet,ORPHA:319581,Disorder,Disease,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Autosomal dominant MSMD due to partial IFNgammaR1 deficiency|Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency|Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency +GARD:0017462,Orphanet,ORPHA:319595,Disorder,Disease,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,MSMD due to partial STAT1 deficiency|MSMD due to partial signal transducer and activator of transcription 1 deficiency|Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency +GARD:0017463,Orphanet,ORPHA:319600,Disorder,Disease,Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,MSMD due to partial IRF8 deficiency|MSMD due to partial interferon regulatory factor 8 deficiency|Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency +GARD:0017464,Orphanet,ORPHA:319605,Disorder,Disease,X-linked mendelian susceptibility to mycobacterial diseases,X-linked MSMD +GARD:0017465,Orphanet,ORPHA:319623,Subtype of disorder,Etiological subtype,X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency,X-linked MSMD due to CYBB deficiency +GARD:0017466,Orphanet,ORPHA:319635,Disorder,Disease,Amyloidosis cutis dyschromia,Amyloidosis cutis dyschromica +GARD:0017467,Orphanet,ORPHA:319640,Disorder,Disease,Retinal macular dystrophy type 2,MCDR2 +GARD:0017468,Orphanet,ORPHA:319671,Disorder,Malformation syndrome,Alazami syndrome,"Microcephalic primordial dwarfism, Alazami type" +GARD:0017469,Orphanet,ORPHA:319675,Disorder,Malformation syndrome,"Microcephalic primordial dwarfism, Dauber type", +GARD:0017470,Orphanet,ORPHA:319678,Disorder,Disease,Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, +GARD:0017471,Orphanet,ORPHA:320355,Disorder,Disease,Autosomal dominant spastic paraplegia type 41,SPG41 +GARD:0017472,Orphanet,ORPHA:320365,Disorder,Disease,Autosomal dominant spastic paraplegia type 36,SPG36 +GARD:0017473,Orphanet,ORPHA:320370,Disorder,Disease,Autosomal recessive spastic paraplegia type 43,SPG43 +GARD:0017474,Orphanet,ORPHA:320375,Disorder,Disease,Autosomal recessive spastic paraplegia type 55,SPG55 +GARD:0017475,Orphanet,ORPHA:320380,Disorder,Disease,Autosomal recessive spastic paraplegia type 54,SPG54 +GARD:0017476,Orphanet,ORPHA:320391,Disorder,Disease,Autosomal recessive spastic paraplegia type 46,SPG46 +GARD:0017477,Orphanet,ORPHA:320396,Disorder,Disease,Autosomal recessive spastic paraplegia type 45,Autosomal recessive spastic paraplegia type 65|SPG45|SPG65 +GARD:0017478,Orphanet,ORPHA:320401,Disorder,Disease,Autosomal recessive spastic paraplegia type 44,SPG44 +GARD:0017479,Orphanet,ORPHA:320406,Disorder,Disease,Spastic paraplegia-optic atrophy-neuropathy syndrome,SPOAN +GARD:0017480,Orphanet,ORPHA:320411,Disorder,Disease,Autosomal recessive spastic paraplegia type 56,SPG56 +GARD:0017481,Orphanet,ORPHA:324262,Subtype of disorder,Clinical subtype,Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency|Autosomal recessive spinocerebellar ataxia type 13|SCAR13 +GARD:0017482,Orphanet,ORPHA:324290,Disorder,Disease,Early-onset Lafora body disease, +GARD:0017483,Orphanet,ORPHA:324294,Disorder,Disease,T-cell immunodeficiency with epidermodysplasia verruciformis,T-cell immunodeficiency due to RHOH deficiency +GARD:0017484,Orphanet,ORPHA:324321,Disorder,Disease,Sinoatrial node dysfunction and deafness,Sinoatrial node dysfunction and hearing loss +GARD:0017485,Orphanet,ORPHA:324410,Disorder,Disease,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome, +GARD:0017486,Orphanet,ORPHA:324530,Disorder,Disease,Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,APLAID +GARD:0017487,Orphanet,ORPHA:324535,Disorder,Disease,Combined oxidative phosphorylation defect type 11,COXPD11 +GARD:0017488,Orphanet,ORPHA:324569,Disorder,Malformation syndrome,Pontocerebellar hypoplasia type 8,PCH8|Pontocerebellar hypoplasia due to CHMP1A mutation +GARD:0017489,Orphanet,ORPHA:324703,Subtype of disorder,Clinical subtype,ABetaL34V amyloidosis,"ABeta amyloidosis, Piedmont type|ABetaL34V-related amyloidosis|HCHWA, Piedmont type|Hereditary cerebral hemorrhage with amyloidosis, Piedmont type" +GARD:0017490,Orphanet,ORPHA:324708,Subtype of disorder,Clinical subtype,"ABeta amyloidosis, Iowa type","ABetaD23N amyloidosis|HCHWA, Iowa type|Hereditary cerebral hemorrhage with amyloidosis, Iowa type" +GARD:0017491,Orphanet,ORPHA:324713,Subtype of disorder,Clinical subtype,"ABeta amyloidosis, Italian type","ABetaE22K amyloidosis|HCHWA, Italian type|Hereditary cerebral hemorrhage with amyloidosis, Italian type" +GARD:0017492,Orphanet,ORPHA:324718,Subtype of disorder,Clinical subtype,ABetaA21G amyloidosis,"ABeta amyloidosis, Flemish type|ABetaA21G-related amyloidosis|HCHWA, Flemish type|Hereditary cerebral hemorrhage with amyloidosis, Flemish type" +GARD:0017493,Orphanet,ORPHA:324723,Subtype of disorder,Clinical subtype,"ABeta amyloidosis, Arctic type","ABetaE22G amyloidosis|HCHWA, Arctic type|Hereditary cerebral hemorrhage with amyloidosis, Arctic type" +GARD:0017494,Orphanet,ORPHA:329173,Disorder,Disease,Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis, +GARD:0017495,Orphanet,ORPHA:329191,Disorder,Disease,Tall stature-long halluces-multiple extra-epiphyses syndrome,Tall stature-scoliosis-macrodactyly of the halluces syndrome +GARD:0017496,Orphanet,ORPHA:329195,Disorder,Disease,Developmental delay with autism spectrum disorder and gait instability,Developmental delay with ASD and gait instability +GARD:0017497,Orphanet,ORPHA:329211,Disorder,Disease,Autosomal dominant neovascular inflammatory vitreoretinopathy,ADNIV +GARD:0017498,Orphanet,ORPHA:329228,Disorder,Malformation syndrome,Microcephalic primordial dwarfism due to ZNF335 deficiency,"Microcephalic primordial dwarfism, Walsh type" +GARD:0017499,Orphanet,ORPHA:329235,Disorder,Disease,X-linked central congenital hypothyroidism with late-onset testicular enlargement,IGSF1 deficiency syndrome|X-linked central congenital hypothyroidism with late-onset macroorchidism +GARD:0017500,Orphanet,ORPHA:329242,Disorder,Disease,Congenital chronic diarrhea with protein-losing enteropathy,Congenital chronic diarrhea with exudative enteropathy +GARD:0017501,Orphanet,ORPHA:329314,Disorder,Disease,Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency +GARD:0017502,Orphanet,ORPHA:329332,Disorder,Malformation syndrome,Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome +GARD:0017503,Orphanet,ORPHA:329336,Disorder,Disease,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,Adult-onset CPEO with mitochondrial myopathy +GARD:0017504,Orphanet,ORPHA:329481,Disorder,Disease,Lipoprotein glomerulopathy,LPG +GARD:0017505,Orphanet,ORPHA:329802,Disorder,Malformation syndrome,5p13 microduplication syndrome,Dup(5)(p13)|Trisomy 5p13 +GARD:0017506,Orphanet,ORPHA:329903,Subtype of disorder,Clinical subtype,Immunoglobulin-mediated membranoproliferative glomerulonephritis,Ig-mediated MPGN|Ig-mediated membranoproliferative glomerulonephritis|Immunoglobulin-mediated MPGN +GARD:0017507,Orphanet,ORPHA:329918,Subtype of disorder,Clinical subtype,C3 glomerulopathy,Non-Ig-mediated MPGN|Non-Ig-mediated membranoproliferative glomerulonephritis|Non-immunoglobulin-mediated MPGN|Non-immunoglobulin-mediated membranoproliferative glomerulonephritis +GARD:0017508,Orphanet,ORPHA:329971,Subtype of disorder,Clinical subtype,Generalized juvenile polyposis/juvenile polyposis coli, +GARD:0017509,Orphanet,ORPHA:330050,Subtype of disorder,Etiological subtype,DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect, +GARD:0017510,Orphanet,ORPHA:330061,Disorder,Disease,Actinic prurigo,Familial polymorphous light eruption of American Indians|Hereditary polymorphous light eruption of American Indians|Hutchinson summer prurigo|Hydroa aestivale +GARD:0017511,Orphanet,ORPHA:331176,Disorder,Disease,Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency,SCN4|Severe congenital neutropenia type 4|Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome +GARD:0017512,Orphanet,ORPHA:331187,Disorder,Disease,Immunodeficiency due to MASP-2 deficiency, +GARD:0017513,Orphanet,ORPHA:331190,Disorder,Disease,Immunodeficiency due to ficolin3 deficiency, +GARD:0017514,Orphanet,ORPHA:331226,Disorder,Disease,Susceptibility to infection due to TYK2 deficiency,Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency +GARD:0017515,Orphanet,ORPHA:352333,Disorder,Disease,Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome|ELOVL4-related neuro ichthyosis +GARD:0017516,Orphanet,ORPHA:352403,Disorder,Disease,Spectrin-associated autosomal recessive cerebellar ataxia,Ataxie spinocérébelleuse à début infantile avec retard psychomoteur|Autosomal recessive spinocerebellar ataxia type 14|Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|SCAR14|SPARCA|SPARCA1|Spectrin-associated autosomal recessive cerebellar ataxia type 1 +GARD:0017517,Orphanet,ORPHA:352447,Disorder,Disease,Progressive external ophthalmoplegia-myopathy-emaciation syndrome,Mitochondrial DNA maintenance syndrome due to MGME1 deficiency|PEO-myopathy-emaciation syndrome|mtDNA maintenance syndrome due to MGME1 deficiency +GARD:0017518,Orphanet,ORPHA:352470,Disorder,Disease,DNA2-related mitochondrial DNA deletion syndrome,Mitochondrial DNA deletion syndrome with limb-girdle weakness|Mitochondrial DNA deletion syndrome with progressive myopathy|mtDNA deletion syndrome with limb-girdle weakness|mtDNA deletion syndrome with progressive myopathy +GARD:0017519,Orphanet,ORPHA:352479,Disorder,Disease,ISPD-related limb-girdle muscular dystrophy R20,Autosomal recessive limb-girdle muscular dystrophy type 2U|ISPD-related LGMD R20|LGMD type 2U|LGMD2U|Limb-girdle muscular dystrophy type 2U +GARD:0017520,Orphanet,ORPHA:352490,Disorder,Disease,Autism spectrum disorder due to AUTS2 deficiency,ASD due to AUTS2 deficiency|AUTS2 syndrome +GARD:0017521,Orphanet,ORPHA:352582,Disorder,Disease,Familial infantile myoclonic epilepsy,FIME|Familial infantile myoclonus epilepsy +GARD:0017522,Orphanet,ORPHA:352596,Disorder,Disease,Progressive myoclonic epilepsy with dystonia,PMED|Progressive myoclonus epilepsy with dystonia +GARD:0017523,Orphanet,ORPHA:352654,Disorder,Disease,Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, +GARD:0017524,Orphanet,ORPHA:352657,Disorder,Disease,Hereditary benign intraepithelial dyskeratosis,HBID|Hereditary benign corneal intraepithelial dyskeratosis +GARD:0017525,Orphanet,ORPHA:352662,Disorder,Disease,Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, +GARD:0017526,Orphanet,ORPHA:352682,Disorder,Disease,Cobblestone lissencephaly without muscular or ocular involvement,Cobblestone lissencephaly without muscular or eye involvement|Lissencephaly type 2 without muscular or eye involvement|Lissencephaly type 2 without muscular or ocular involvement +GARD:0017527,Orphanet,ORPHA:352709,Subtype of disorder,Etiological subtype,CLN13 disease, +GARD:0017528,Orphanet,ORPHA:352712,Disorder,Disease,Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,FILS syndrome +GARD:0017529,Orphanet,ORPHA:352718,Disorder,Disease,Progressive retinal dystrophy due to retinol transport defect,Retinol dystrophy-iris coloboma-comedogenic acne syndrome +GARD:0017530,Orphanet,ORPHA:352737,Subtype of disorder,Clinical subtype,Temperature-sensitive oculocutaneous albinism type 1,OCA1-TS|TS OCA type 1 +GARD:0017531,Orphanet,ORPHA:352745,Disorder,Disease,Oculocutaneous albinism type 7,OCA7 +GARD:0017532,Orphanet,ORPHA:353217,Disorder,Disease,Epileptic encephalopathy with global cerebral demyelination,AGC1 deficiency|Mitochondrial aspartate-glutamate carrier 1 deficiency +GARD:0017533,Orphanet,ORPHA:353220,Disorder,Disease,Familial primary localized cutaneous amyloidosis,FPLCA +GARD:0017534,Orphanet,ORPHA:353277,Subtype of disorder,Etiological subtype,Rubinstein-Taybi syndrome due to CREBBP mutations, +GARD:0017535,Orphanet,ORPHA:353284,Subtype of disorder,Etiological subtype,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, +GARD:0017536,Orphanet,ORPHA:353308,Subtype of disorder,Clinical subtype,"Pyruvate carboxylase deficiency, infantile type",Pyruvate carboxylase deficiency type A +GARD:0017537,Orphanet,ORPHA:353314,Subtype of disorder,Clinical subtype,"Pyruvate carboxylase deficiency, severe neonatal type",Pyruvate carboxylase deficiency type B +GARD:0017538,Orphanet,ORPHA:353320,Subtype of disorder,Clinical subtype,"Pyruvate carboxylase deficiency, benign type",Pyruvate carboxylase deficiency type C +GARD:0017539,Orphanet,ORPHA:353327,Subtype of disorder,Etiological subtype,Congenital myasthenic syndromes with glycosylation defect, +GARD:0017540,Orphanet,ORPHA:356978,Disorder,Disease,"D,L-2-hydroxyglutaric aciduria","Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia|Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria|D,L-2-HGA|D,L-2-hydroxyglutaric acidemia" +GARD:0017541,Orphanet,ORPHA:356996,Disorder,Disease,ANK3-related intellectual disability-sleep disturbance syndrome, +GARD:0017542,Orphanet,ORPHA:357001,Disorder,Malformation syndrome,19p13.13 microdeletion syndrome,Del(19)(p13.13)|Monosomy 19p13.13 +GARD:0017543,Orphanet,ORPHA:357008,Disorder,Disease,Hemolytic uremic syndrome with DGKE deficiency,HUS with DGKE deficiency +GARD:0017544,Orphanet,ORPHA:357027,Subtype of disorder,Clinical subtype,Hereditary retinoblastoma, +GARD:0017545,Orphanet,ORPHA:357034,Subtype of disorder,Clinical subtype,Non-hereditary retinoblastoma, +GARD:0017546,Orphanet,ORPHA:357074,Subtype of disorder,Clinical subtype,"Autosomal recessive cutis laxa type 2, classic type","ARCL2, Debré type|ARCL2, classic type|Autosomal recessive cutis laxa type 2, Debré type" +GARD:0017547,Orphanet,ORPHA:357158,Disorder,Disease,Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,Macroblepharon-ectropion-hypertelorism-macrostomia syndrome +GARD:0017548,Orphanet,ORPHA:357175,Disorder,Malformation syndrome,Short ulna-dysmorphism-hypotonia-intellectual disability syndrome, +GARD:0017549,Orphanet,ORPHA:357237,Disorder,Disease,Severe combined immunodeficiency due to CARD11 deficiency,SCID due to CARD11 deficiency +GARD:0017550,Orphanet,ORPHA:357329,Disorder,Disease,Combined immunodeficiency due to IL21R deficiency, +GARD:0017551,Orphanet,ORPHA:357332,Disorder,Malformation syndrome,Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome|Wahab syndrome +GARD:0017552,Orphanet,ORPHA:363400,Disorder,Disease,Severe neurodegenerative syndrome with lipodystrophy,Severe neurodegenerative syndrome due to BSCL2 deficiency +GARD:0017553,Orphanet,ORPHA:363409,Disorder,Disease,Fetal akinesia-cerebral and retinal hemorrhage syndrome,LCCS5|Lethal congenital contracture syndrome type 5 +GARD:0017554,Orphanet,ORPHA:363412,Disorder,Disease,Hypomyelination with brain stem and spinal cord involvement and leg spasticity,HBSL +GARD:0017555,Orphanet,ORPHA:363424,Disorder,Disease,Multiple mitochondrial dysfunctions syndrome type 3,IBA57 deficiency|MMDS3 +GARD:0017556,Orphanet,ORPHA:363429,Disorder,Disease,Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome, +GARD:0017557,Orphanet,ORPHA:363432,Subtype of disorder,Clinical subtype,Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|SCAR18 +GARD:0017558,Orphanet,ORPHA:363444,Disorder,Malformation syndrome,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,BBIS|Beaulieu-Boycott-Innes syndrome +GARD:0017559,Orphanet,ORPHA:363447,Disorder,Disease,Autosomal dominant childhood-onset proximal spinal muscular atrophy,Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy|SMALED +GARD:0017560,Orphanet,ORPHA:363483,Disorder,Disease,Testicular teratoma,Teratoma of the testis +GARD:0017561,Orphanet,ORPHA:363494,Disorder,Disease,Non-seminomatous germ cell tumor of testis,Non-dysgerminomatous germ cell tumor of testis|Testicular non seminomatous germ cell tumor|Testicular non-dysgerminomatous germ cell tumor +GARD:0017562,Orphanet,ORPHA:363523,Disorder,Disease,Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,Shaheen syndrome +GARD:0017563,Orphanet,ORPHA:363528,Disorder,Disease,Intellectual disability-strabismus syndrome, +GARD:0017564,Orphanet,ORPHA:363534,Disorder,Disease,"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","mtDNA depletion syndrome, hepatocerebrorenal form" +GARD:0017565,Orphanet,ORPHA:363540,Disorder,Disease,Leukoencephalopathy with mild cerebellar ataxia and white matter edema, +GARD:0017566,Orphanet,ORPHA:363611,Disorder,Disease,CTCF-related neurodevelopmental disorder, +GARD:0017567,Orphanet,ORPHA:363654,Disorder,Disease,X-linked parkinsonism-spasticity syndrome,XPDS +GARD:0017568,Orphanet,ORPHA:363677,Disorder,Disease,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia, +GARD:0017569,Orphanet,ORPHA:363694,Disorder,Disease,Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,HUPRA syndrome +GARD:0017570,Orphanet,ORPHA:363700,Subtype of disorder,Etiological subtype,Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion,Von Recklinghausen disease due to NF1 mutation or intragenic deletion +GARD:0017571,Orphanet,ORPHA:363705,Disorder,Disease,Craniofaciofrontodigital syndrome,Cantu craniofaciofrontodigital syndrome +GARD:0017572,Orphanet,ORPHA:363717,Subtype of disorder,Clinical subtype,Alexander disease type I,AxD type I +GARD:0017573,Orphanet,ORPHA:363722,Subtype of disorder,Clinical subtype,Alexander disease type II,AxD type II +GARD:0017574,Orphanet,ORPHA:363727,Disorder,Disease,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia, +GARD:0017575,Orphanet,ORPHA:363741,Disorder,Disease,Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome, +GARD:0017576,Orphanet,ORPHA:363958,Subtype of disorder,Etiological subtype,17q21.31 microdeletion syndrome,Del(17)(q21.31)|Monosomy 17q21.31 +GARD:0017577,Orphanet,ORPHA:363972,Disorder,Malformation syndrome,Noonan syndrome-like disorder with juvenile myelomonocytic leukemia,CBL syndrome|Noonan syndrome-like disorder with JMML +GARD:0017578,Orphanet,ORPHA:363981,Disorder,Disease,Charcot-Marie-Tooth disease type 4B3,CMT4B3|Charcot-Marie-Tooth disease with focally folded myelin +GARD:0017579,Orphanet,ORPHA:363992,Disorder,Disease,Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,15q26.3 microdeletion syndrome +GARD:0017580,Orphanet,ORPHA:363999,Subtype of disorder,Clinical subtype,Non-immune hydrops fetalis,NIHF|Non-immune HF|Non-immune fetal edema|Non-immune fetal hydrops +GARD:0017581,Orphanet,ORPHA:364028,Disorder,Disease,X-linked intellectual disability due to GRIA3 mutations, +GARD:0017582,Orphanet,ORPHA:364063,Disorder,Disease,Infantile epileptic-dyskinetic encephalopathy, +GARD:0017583,Orphanet,ORPHA:364577,Disorder,Malformation syndrome,Intellectual disability-brachydactyly-Pierre Robin syndrome, +GARD:0017584,Orphanet,ORPHA:369837,Disorder,Malformation syndrome,Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,Congenital disorder of glycosylation due to PIGT deficiency|MCAHS type 3|Multiple congenital anomalies-hypotonia-seizures syndrome type 3|PIGT-CDG +GARD:0017585,Orphanet,ORPHA:369852,Disorder,Disease,Congenital neutropenia-myelofibrosis-nephromegaly syndrome,Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome|VPS45 deficiency +GARD:0017586,Orphanet,ORPHA:369861,Disorder,Disease,Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,SIFD syndrome +GARD:0017587,Orphanet,ORPHA:369867,Disorder,Disease,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,RI-CMT type C +GARD:0017588,Orphanet,ORPHA:369891,Disorder,Malformation syndrome,Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,MED13L-related intellectual disability syndrome +GARD:0017589,Orphanet,ORPHA:369913,Disorder,Disease,Combined oxidative phosphorylation defect type 17,COXPD17 +GARD:0017590,Orphanet,ORPHA:369920,Disorder,Malformation syndrome,Pontocerebellar hypoplasia type 9,PCH9 +GARD:0017591,Orphanet,ORPHA:369929,Disorder,Disease,Primary hyperaldosteronism-seizures-neurological abnormalities syndrome, +GARD:0017592,Orphanet,ORPHA:369939,Disorder,Malformation syndrome,Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome +GARD:0017593,Orphanet,ORPHA:369970,Disorder,Disease,Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,MMCAT syndrome +GARD:0017594,Orphanet,ORPHA:369992,Disorder,Disease,Severe dermatitis-multiple allergies-metabolic wasting syndrome,Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome|SAM syndrome +GARD:0017595,Orphanet,ORPHA:369999,Disorder,Disease,Diffuse palmoplantar keratoderma with painful fissures, +GARD:0017596,Orphanet,ORPHA:370002,Disorder,Disease,Focal palmoplantar keratoderma with joint keratoses, +GARD:0017597,Orphanet,ORPHA:370022,Disorder,Disease,Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,Poretti-Boltshauser syndrome +GARD:0017598,Orphanet,ORPHA:370091,Disorder,Disease,Oculocutaneous albinism type 5,OCA5 +GARD:0017599,Orphanet,ORPHA:370097,Disorder,Disease,Oculocutaneous albinism type 6,OCA6 +GARD:0017600,Orphanet,ORPHA:370334,Disorder,Disease,Extraskeletal Ewing sarcoma,EOE|Extraosseous Ewing sarcoma|Extraosseous Ewing tumor|Extraskeletal Ewing tumor +GARD:0017601,Orphanet,ORPHA:370348,Disorder,Disease,Peripheral primitive neuroectodermal tumor,PPNET|Peripheral PNET|Peripheral neuroepithelioma +GARD:0017602,Orphanet,ORPHA:370921,Disorder,Disease,STT3A-CDG,CDG syndrome type Iw|CDG-Iw|CDG1W|Congenital disorder of glycosylation type 1w|Congenital disorder of glycosylation type Iw +GARD:0017603,Orphanet,ORPHA:370924,Disorder,Disease,STT3B-CDG,CDG syndrome type Ix|CDG-Ix|CDG1X|Carbohydrate deficient glycoprotein syndrome type Ix|Congenital disorder of glycosylation type 1x|Congenital disorder of glycosylation type Ix +GARD:0017604,Orphanet,ORPHA:370943,Disorder,Disease,Autism spectrum disorder-epilepsy-arthrogryposis syndrome,SLC35A3-CDG +GARD:0017605,Orphanet,ORPHA:370959,Disorder,Disease,Congenital muscular dystrophy with cerebellar involvement,CMD with cerebellar involvement|CMD-CRB +GARD:0017606,Orphanet,ORPHA:370968,Disorder,Disease,Congenital muscular dystrophy with intellectual disability,CMD with intellectual disability|CMD-MR +GARD:0017607,Orphanet,ORPHA:370980,Disorder,Disease,Congenital muscular dystrophy without intellectual disability,CMD without intellectual disability|CMD-no MR|Congenital muscular dystrophy-dystroglycanopathy without intellectual disability +GARD:0017608,Orphanet,ORPHA:370997,Disorder,Disease,Muscle-eye-brain disease with bilateral multicystic leucodystrophy,MEB disease with bilateral multicystic leucodystrophy +GARD:0017609,Orphanet,ORPHA:371364,Disorder,Disease,Hypotonia-speech impairment-severe cognitive delay syndrome,IHPRF syndrome|Infantile hypotonia-psychomotor retardation-characteristic facies syndrome +GARD:0017610,Orphanet,ORPHA:371428,Disorder,Disease,Multicentric osteolysis-nodulosis-arthropathy spectrum,MONA spectrum|NAO syndrome|Nodulosis-arthropathy-osteolysis syndrome|Torg-Winchester syndrome +GARD:0017611,Orphanet,ORPHA:391307,Disorder,Malformation syndrome,Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, +GARD:0017612,Orphanet,ORPHA:391311,Disorder,Disease,Susceptibility to viral and mycobacterial infections due to STAT1 deficiency,Predisposition to severe viral infection due to STAT1 deficiency|STAT1 deficiency +GARD:0017613,Orphanet,ORPHA:391320,Subtype of disorder,Etiological subtype,East Texas bleeding disorder, +GARD:0017614,Orphanet,ORPHA:391330,Disorder,Disease,X-linked osteoporosis with fractures, +GARD:0017615,Orphanet,ORPHA:391348,Disorder,Disease,Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, +GARD:0017616,Orphanet,ORPHA:391351,Disorder,Disease,SURF1-related Charcot-Marie-Tooth disease type 4,CMT4K|Charcot-Marie-Tooth disease type 4K|SURF1-related CMT4|SURF1-related severe demyelinating Charcot-Marie-Tooth disease +GARD:0017617,Orphanet,ORPHA:391376,Disorder,Disease,Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,Asparagine synthetase deficiency +GARD:0017618,Orphanet,ORPHA:391389,Subtype of disorder,Clinical subtype,Familial episodic pain syndrome with predominantly upper body involvement, +GARD:0017619,Orphanet,ORPHA:391392,Subtype of disorder,Clinical subtype,Familial episodic pain syndrome with predominantly lower limb involvement, +GARD:0017620,Orphanet,ORPHA:391408,Disorder,Disease,Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome, +GARD:0017621,Orphanet,ORPHA:391411,Disorder,Disease,Atypical juvenile parkinsonism, +GARD:0017622,Orphanet,ORPHA:391428,Subtype of disorder,Clinical subtype,"HSD10 disease, infantile type","2-methyl-3-hydroxybutyric aciduria, classic type|2-methyl-3-hydroxybutyric aciduria, infantile type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type|HSD10 deficiency, classic type|HSD10 deficiency, infantile type|HSD10 disease, classic type|MHBD deficiency, classic type|MHBD deficiency, infantile type" +GARD:0017623,Orphanet,ORPHA:391457,Subtype of disorder,Clinical subtype,"HSD10 disease, neonatal type","2-methyl-3-hydroxybutyric aciduria, neonatal type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type|HSD10 deficiency, neonatal type|MHBD deficiency, neonatal type" +GARD:0017624,Orphanet,ORPHA:391641,Subtype of disorder,Clinical subtype,Feingold syndrome type 1,Brunner-Winter syndrome type 1|Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1|FGLDS1|FS1|MMT type 1|MODED syndrome type 1|Microcephaly-digital anomalies-normal intelligence syndrome type 1|Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1|Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1|ODED syndrome type 1|Oculo-digito-esophageal-duodenal syndrome type 1 +GARD:0017625,Orphanet,ORPHA:391646,Subtype of disorder,Clinical subtype,Feingold syndrome type 2,Brachydactyly-short stature-microcephaly syndrome|Brunner-Winter syndrome type 2|FGLDS2|FS2|MMT type 2|Microcephaly-digital anomalies-normal intelligence syndrome type 2|Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2 +GARD:0017626,Orphanet,ORPHA:394529,Subtype of disorder,Clinical subtype,"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type","Glutaric aciduria type 2, severe neonatal type|MAD deficiency, severe neonatal type|MADD, severe neonatal type" +GARD:0017627,Orphanet,ORPHA:394532,Subtype of disorder,Clinical subtype,"Multiple acyl-CoA dehydrogenase deficiency, mild type","Glutaric aciduria type 2, mild type|MAD deficiency, mild type|MADD, mild type" +GARD:0017628,Orphanet,ORPHA:397590,Subtype of disorder,Etiological subtype,Silver-Russell syndrome due to a point mutation, +GARD:0017629,Orphanet,ORPHA:397593,Disorder,Disease,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency, +GARD:0017630,Orphanet,ORPHA:397612,Disorder,Malformation syndrome,Macrocephaly-developmental delay syndrome, +GARD:0017631,Orphanet,ORPHA:397615,Subtype of disorder,Etiological subtype,Obesity due to CEP19 deficiency, +GARD:0017632,Orphanet,ORPHA:397618,Disorder,Disease,Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,FHONDA syndrome +GARD:0017633,Orphanet,ORPHA:397623,Disorder,Malformation syndrome,Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,SAMS syndrome +GARD:0017634,Orphanet,ORPHA:397685,Disorder,Disease,Familial hyperprolactinemia,Familial isolated prolactin receptor deficiency +GARD:0017635,Orphanet,ORPHA:397692,Disorder,Disease,Hereditary isolated aplastic anemia, +GARD:0017636,Orphanet,ORPHA:397709,Disorder,Malformation syndrome,Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,Autosomal recessive spinocerebellar ataxia type 20|Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|SCAR20 +GARD:0017637,Orphanet,ORPHA:397715,Disorder,Malformation syndrome,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,JBTS with JATD|Joubert syndrome with JATD +GARD:0017638,Orphanet,ORPHA:397735,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2U,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation|CMT2U +GARD:0017639,Orphanet,ORPHA:397744,Disorder,Disease,Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,Peripheral neuropathy-myopathy-hoarseness-deafness syndrome +GARD:0017640,Orphanet,ORPHA:397758,Disorder,Disease,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,Retinal dystrophy with inner nuclear layer and ganglion cell anomalies +GARD:0017641,Orphanet,ORPHA:397787,Disorder,Disease,Severe combined immunodeficiency due to IKK2 deficiency,SCID due to IKK2 deficiency +GARD:0017642,Orphanet,ORPHA:397927,Disorder,Malformation syndrome,Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome, +GARD:0017643,Orphanet,ORPHA:397937,Disorder,Disease,Polyglucosan body myopathy type 1,PGBM1 +GARD:0017644,Orphanet,ORPHA:397946,Disorder,Disease,Autosomal spastic paraplegia type 58,Autosomal spastic ataxia type 2|SPAX2|SPG58 +GARD:0017645,Orphanet,ORPHA:397951,Disorder,Disease,Microcephaly-thin corpus callosum-intellectual disability syndrome, +GARD:0017646,Orphanet,ORPHA:397959,Disorder,Disease,TCR-alpha-beta-positive T-cell deficiency,TCR-alpha-beta+ T-cell deficiency +GARD:0017647,Orphanet,ORPHA:397964,Disorder,Disease,Combined immunodeficiency due to MALT1 deficiency, +GARD:0017648,Orphanet,ORPHA:397973,Disorder,Disease,Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,MOMES syndrome +GARD:0017649,Orphanet,ORPHA:398173,Subtype of disorder,Clinical subtype,Focal facial dermal dysplasia type II,"FFDD type II|FFDD2|Focal facial dermal dysplasia 2, Brauer-Setleis type" +GARD:0017650,Orphanet,ORPHA:398189,Subtype of disorder,Clinical subtype,Focal facial dermal dysplasia type IV,FFDD type IV|FFDD4|Focal facial dermal dysplasia 4|Focal facial preauricular dysplasia +GARD:0017651,Orphanet,ORPHA:399058,Disorder,Disease,Alpha-B crystallin-related late-onset myopathy,Alpha-B crystallin-related late-onset distal myopathy|Late-onset distal crystallinopathy +GARD:0017652,Orphanet,ORPHA:399086,Disorder,Disease,Finnish upper limb-onset distal myopathy,Distal myopathy type 3|MPD3 +GARD:0017653,Orphanet,ORPHA:399096,Disorder,Disease,Distal anoctaminopathy,MMD3|Miyoshi muscular dystrophy type 3 +GARD:0017654,Orphanet,ORPHA:399808,Disorder,Disease,Male infertility with teratozoospermia due to single gene mutation, +GARD:0017655,Orphanet,ORPHA:401764,Disorder,Disease,Pancytopenia-developmental delay syndrome,Trilineage bone marrow failure-developmental delay syndrome +GARD:0017656,Orphanet,ORPHA:401780,Disorder,Disease,Autosomal recessive spastic paraplegia type 61,SPG61 +GARD:0017657,Orphanet,ORPHA:401785,Disorder,Disease,Autosomal recessive spastic paraplegia type 62,SPG62 +GARD:0017658,Orphanet,ORPHA:401805,Disorder,Disease,Autosomal recessive spastic paraplegia type 63,SPG63 +GARD:0017659,Orphanet,ORPHA:401810,Disorder,Disease,Autosomal recessive spastic paraplegia type 64,SPG64 +GARD:0017660,Orphanet,ORPHA:401849,Disorder,Disease,Autosomal spastic paraplegia type 72,SPG72 +GARD:0017661,Orphanet,ORPHA:401869,Disorder,Disease,Multiple mitochondrial dysfunctions syndrome type 1,MMDS1|NFU1 deficiency +GARD:0017662,Orphanet,ORPHA:401874,Disorder,Disease,Multiple mitochondrial dysfunctions syndrome type 2,BOLA3 deficiency|MMDS2 +GARD:0017663,Orphanet,ORPHA:401942,Disorder,Malformation syndrome,Familial median cleft of the upper and lower lips, +GARD:0017664,Orphanet,ORPHA:401945,Disorder,Disease,Moyamoya disease with early-onset achalasia, +GARD:0017665,Orphanet,ORPHA:401953,Disorder,Disease,Episodic ataxia with slurred speech,Episodic ataxia type 8 +GARD:0017666,Orphanet,ORPHA:401973,Disorder,Malformation syndrome,MEND syndrome,Male EBP disorder with neurological defects +GARD:0017667,Orphanet,ORPHA:401979,Disorder,Malformation syndrome,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type", +GARD:0017668,Orphanet,ORPHA:401986,Disorder,Malformation syndrome,1p31p32 microdeletion syndrome,Del(1)(p31p32)|Monosomy 1p31p32 +GARD:0017669,Orphanet,ORPHA:402003,Disorder,Disease,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering, +GARD:0017670,Orphanet,ORPHA:402075,Disorder,Morphological anomaly,Familial bicuspid aortic valve,Familial BAV +GARD:0017671,Orphanet,ORPHA:402082,Disorder,Disease,Progressive myoclonic epilepsy type 5,EPM5|PME type 5|Progressive myoclonus epilepsy type 5 +GARD:0017672,Orphanet,ORPHA:404437,Disorder,Malformation syndrome,Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome, +GARD:0017673,Orphanet,ORPHA:404440,Disorder,Malformation syndrome,Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, +GARD:0017674,Orphanet,ORPHA:404443,Disorder,Malformation syndrome,Tatton-Brown-Rahman syndrome,DNMT3A-related overgrowth syndrome|Tatton-Brown-Rahman overgrowth syndrome +GARD:0017675,Orphanet,ORPHA:404466,Disorder,Disease,Female infertility due to zona pellucida defect, +GARD:0017676,Orphanet,ORPHA:404476,Disorder,Malformation syndrome,Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,GLOW syndrome +GARD:0017677,Orphanet,ORPHA:404493,Disorder,Disease,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,SCAR23|Spinocerebellar ataxia autosomal recessive type 23 +GARD:0017678,Orphanet,ORPHA:404499,Disorder,Disease,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,Autosomal recessive spinocerebellar ataxia type 15|SCAR15|Salih ataxia +GARD:0017679,Orphanet,ORPHA:404546,Disorder,Disease,DITRA,Deficiency of IL-36R antagonist|Deficiency of IL-36Ra +GARD:0017680,Orphanet,ORPHA:411493,Disorder,Malformation syndrome,Pontocerebellar hypoplasia type 10,CLP1-related pontocerebellar hypoplasia|PCH10 +GARD:0017681,Orphanet,ORPHA:411536,Subtype of disorder,Clinical subtype,Mild phosphoribosylpyrophosphate synthetase superactivity,Mild PRPP synthetase superactivity|Mild PRPS1 superactivity +GARD:0017682,Orphanet,ORPHA:411543,Subtype of disorder,Clinical subtype,Severe phosphoribosylpyrophosphate synthetase superactivity,Severe PRPP synthetase superactivity|Severe PRPS1 superactivity +GARD:0017683,Orphanet,ORPHA:411590,Disorder,Disease,Wolfram-like syndrome, +GARD:0017684,Orphanet,ORPHA:411602,Disorder,Disease,Hereditary late-onset Parkinson disease,Autosomal dominant late-onset Parkinson disease|LOPD +GARD:0017685,Orphanet,ORPHA:411634,Subtype of disorder,Clinical subtype,Juvenile nephropathic cystinosis,Intermediate cystinosis|Juvenile cystinosis +GARD:0017686,Orphanet,ORPHA:411712,Disorder,Disease,Maternal riboflavin deficiency, +GARD:0017687,Orphanet,ORPHA:411986,Disorder,Malformation syndrome,Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome +GARD:0017688,Orphanet,ORPHA:412022,Disorder,Malformation syndrome,Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,FDLAB syndrome|Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome|Traboulsi syndrome +GARD:0017689,Orphanet,ORPHA:412057,Disorder,Disease,Autosomal recessive cerebellar ataxia due to STUB1 deficiency,SCAR16|Spinocerebellar ataxia autosomal recessive type 16 +GARD:0017690,Orphanet,ORPHA:412181,Disorder,Disease,Epidermolysis bullosa simplex due to BP230 deficiency,DST-related epidermolysis bullosa simplex|EBS due to BP230 deficiency +GARD:0017691,Orphanet,ORPHA:412189,Disorder,Disease,Epidermolysis bullosa simplex due to exophilin 5 deficiency,EBS due to exophilin 5 deficiency +GARD:0017692,Orphanet,ORPHA:412206,Disorder,Disease,Primary failure of tooth eruption,PFE|Primary retention of teeth +GARD:0017693,Orphanet,ORPHA:420485,Disorder,Disease,Cranio-cervical dystonia with laryngeal and upper-limb involvement,DYT24|Dystonia 24 +GARD:0017694,Orphanet,ORPHA:420492,Disorder,Disease,"Adult-onset cervical dystonia, DYT23 type",DYT23|Dystonia 23 +GARD:0017695,Orphanet,ORPHA:420566,Disorder,Disease,Bleeding disorder due to CalDAG-GEFI deficiency,Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency +GARD:0017696,Orphanet,ORPHA:420573,Disorder,Disease,Severe combined immunodeficiency due to CTPS1 deficiency,SCID due to CTPS1 deficiency +GARD:0017697,Orphanet,ORPHA:420686,Disorder,Disease,Woolly hair-palmoplantar keratoderma syndrome,KWWH type IV|Keratoderma with woolly hair type IV|Woolly hair-palmoplantar hyperkeratosis syndrome +GARD:0017698,Orphanet,ORPHA:420702,Disorder,Disease,Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, +GARD:0017699,Orphanet,ORPHA:420728,Disorder,Disease,Combined oxidative phosphorylation defect type 20,COXPD20 +GARD:0017700,Orphanet,ORPHA:420733,Disorder,Disease,Combined oxidative phosphorylation defect type 21,COXPD21 +GARD:0017701,Orphanet,ORPHA:420741,Disorder,Malformation syndrome,RIDDLE syndrome,RNF168 deficiency|Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome +GARD:0017702,Orphanet,ORPHA:423384,Disorder,Disease,Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, +GARD:0017703,Orphanet,ORPHA:423454,Disorder,Disease,Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,Ectodermal dysplasia-short stature syndrome|Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome +GARD:0017704,Orphanet,ORPHA:423461,Subtype of disorder,Clinical subtype,Mucolipidosis type III alpha/beta,ML 3 alpha/beta|ML III alpha/beta|Mucolipidosis type 3 alpha/beta +GARD:0017705,Orphanet,ORPHA:423470,Subtype of disorder,Clinical subtype,Mucolipidosis type III gamma,ML 3 gamma|ML III gamma|Mucolipidosis type 3 gamma +GARD:0017706,Orphanet,ORPHA:424027,Disorder,Disease,Progressive myoclonic epilepsy type 8,EPM8|PME type 8|Progressive myoclonic epilepsy due to CERS1 deficiency|Progressive myoclonus epilepsy type 8 +GARD:0017707,Orphanet,ORPHA:424099,Disorder,Malformation syndrome,Colobomatous microphthalmia-rhizomelic dysplasia syndrome,Microphthalmia-coloboma-rhizomelic skeletal dysplasia +GARD:0017708,Orphanet,ORPHA:424261,Disorder,Disease,TOR1AIP1-related limb-girdle muscular dystrophy,"Autosomal recessive limb-girdle muscular dystrophy type 2Y|Autosomal recessive muscular dystrophy due to LAP1B deficiency|Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency|LGMD type 2Y|LGMD2Y|Muscular dystrophy with progressive weakness, distal contractures and rigid spine|TOR1AIP1-related LGMD" +GARD:0017709,Orphanet,ORPHA:431140,Disorder,Malformation syndrome,X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome +GARD:0017710,Orphanet,ORPHA:431149,Disorder,Disease,Combined immunodeficiency due to OX40 deficiency,Combined immunodeficiency with childhood-onset Kaposi sarcoma|Combined immunodeficiency with impaired immunity to HHV-8|Combined immunodeficiency with impaired immunity to human herpes virus 8 +GARD:0017711,Orphanet,ORPHA:431166,Disorder,Disease,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,Primary immunodeficiency with post-MMR vaccine viral infection +GARD:0017712,Orphanet,ORPHA:431329,Disorder,Disease,Autosomal recessive spastic paraplegia type 57,SPG57|Spastic paraplegia due to partial TFG deficiency +GARD:0017713,Orphanet,ORPHA:435329,Disorder,Disease,Familial ossifying fibroma,Multiple ossifying fibroma +GARD:0017714,Orphanet,ORPHA:435387,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2Y,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation|CMT2 due to VCP mutation|CMT2Y +GARD:0017715,Orphanet,ORPHA:435438,Disorder,Disease,Progressive myoclonic epilepsy type 7,EPM7|MEAK|Myoclonus epilepsy and ataxia due to potassium channel mutation|PME type 7|Progressive myoclonic epilepsy due to KV3.1 deficiency|Progressive myoclonus epilepsy type 7 +GARD:0017716,Orphanet,ORPHA:435628,Disorder,Malformation syndrome,Keppen-Lubinsky syndrome,Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome +GARD:0017717,Orphanet,ORPHA:435804,Disorder,Disease,Short stature-advanced bone age-early-onset osteoarthritis syndrome, +GARD:0017718,Orphanet,ORPHA:435845,Disorder,Malformation syndrome,Lethal neonatal spasticity-epileptic encephalopathy syndrome,Lethal neonatal rigidity-multifocal seizure syndrome +GARD:0017719,Orphanet,ORPHA:435930,Disorder,Disease,Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, +GARD:0017720,Orphanet,ORPHA:435934,Disorder,Disease,COG2-CDG,COG2-related congenital disorder of glycosylation +GARD:0017721,Orphanet,ORPHA:435938,Disorder,Malformation syndrome,X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome, +GARD:0017722,Orphanet,ORPHA:435953,Disorder,Disease,Progeroid features-hepatocellular carcinoma predisposition syndrome,Ruijs-Aalfs syndrome +GARD:0017723,Orphanet,ORPHA:435998,Disorder,Disease,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,RI-CMT type D +GARD:0017724,Orphanet,ORPHA:436151,Disorder,Disease,Intellectual disability-expressive aphasia-facial dysmorphism syndrome,Intellectual disability-loss of expressive language-facial dysmorphism syndrome +GARD:0017725,Orphanet,ORPHA:436166,Disorder,Disease,Periodic fever-infantile enterocolitis-autoinflammatory syndrome,NLRC4-related MAS|NLRC4-related autoinflammatory syndrome with MAS|NLRC4-related autoinflammatory syndrome with macrophage activation syndrome|NLRC4-related infantile enterocolitis-autoinflammatory syndrome|NLRC4-related macrophage activation syndrome +GARD:0017726,Orphanet,ORPHA:436169,Disorder,Disease,Thrombomodulin-related bleeding disorder,THBD-related bleeding disorder|THBD-related coagulopathy|Thrombomodulin-related coagulopathy +GARD:0017727,Orphanet,ORPHA:436174,Disorder,Disease,Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,CAGSSS +GARD:0017728,Orphanet,ORPHA:436182,Disorder,Malformation syndrome,Microcephalic primordial dwarfism-insulin resistance syndrome, +GARD:0017729,Orphanet,ORPHA:436242,Disorder,Disease,Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease, +GARD:0017730,Orphanet,ORPHA:436245,Disorder,Disease,Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,Retinal dystrophy-juvenile cataract-short stature syndrome +GARD:0017731,Orphanet,ORPHA:436252,Disorder,Disease,Combined immunodeficiency-enteropathy spectrum,CID-MIA/early-onset IBD +GARD:0017732,Orphanet,ORPHA:437552,Disorder,Disease,Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity|CD16 deficiency +GARD:0017733,Orphanet,ORPHA:438075,Disorder,Disease,Ketoacidosis due to monocarboxylate transporter-1 deficiency, +GARD:0017734,Orphanet,ORPHA:438114,Disorder,Disease,RARS-related autosomal recessive hypomyelinating leukodystrophy, +GARD:0017735,Orphanet,ORPHA:438117,Disorder,Disease,Steel syndrome,Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome +GARD:0017736,Orphanet,ORPHA:438134,Disorder,Disease,PCNA-related progressive neurodegenerative photosensitivity syndrome, +GARD:0017737,Orphanet,ORPHA:438159,Disorder,Disease,STAT3-related early-onset multisystem autoimmune disease, +GARD:0017738,Orphanet,ORPHA:438207,Disorder,Disease,Severe autosomal recessive macrothrombocytopenia, +GARD:0017739,Orphanet,ORPHA:438213,Disorder,Disease,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, +GARD:0017740,Orphanet,ORPHA:438216,Subtype of disorder,Etiological subtype,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation, +GARD:0017741,Orphanet,ORPHA:439254,Disorder,Disease,ITM2B amyloidosis,Familial cerebral amyloid angiopathy|ITM2B-related amyloidosis|ITM2B-related cerebral amyloid angiopathy +GARD:0017742,Orphanet,ORPHA:439822,Disorder,Malformation syndrome,PDE4D haploinsufficiency syndrome, +GARD:0017743,Orphanet,ORPHA:439897,Disorder,Malformation syndrome,Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, +GARD:0017744,Orphanet,ORPHA:440392,Disorder,Disease,Interstitial lung disease due to SP-C deficiency,Interstitial lung disease due to surfactant protein C deficiency +GARD:0017745,Orphanet,ORPHA:440402,Disorder,Disease,Interstitial lung disease due to ABCA3 deficiency,Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency +GARD:0017746,Orphanet,ORPHA:440427,Disorder,Disease,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,"Hereditary pulmonary alveolar proteinosis with hepatic involvement|Interstitial lung and liver disease|PAP, Reunion island type|Pulmonary alveolar proteinosis, Reunion island type" +GARD:0017747,Orphanet,ORPHA:440706,Disorder,Disease,Ribose-5-P isomerase deficiency, +GARD:0017748,Orphanet,ORPHA:440731,Disorder,Biological anomaly,L-ferritin deficiency, +GARD:0017749,Orphanet,ORPHA:443057,Subtype of disorder,Clinical subtype,Sporadic porphyria cutanea tarda,Porphyria cutanea tarda type I +GARD:0017750,Orphanet,ORPHA:443062,Subtype of disorder,Clinical subtype,Familial porphyria cutanea tarda,Porphyria cutanea tarda type II +GARD:0017751,Orphanet,ORPHA:443073,Disorder,Disease,Charcot-Marie-Tooth disease type 2S,CMT2S +GARD:0017752,Orphanet,ORPHA:443087,Disorder,Disease,"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency", +GARD:0017753,Orphanet,ORPHA:443098,Disorder,Disease,Hyperostosis cranialis interna, +GARD:0017754,Orphanet,ORPHA:443192,Subtype of disorder,Clinical subtype,Classic stiff person syndrome,Classic SPS +GARD:0017755,Orphanet,ORPHA:443197,Disorder,Disease,X-linked erythropoietic protoporphyria,X-linked dominant erythropoietic protoporphyria|X-linked dominant protoporphyria|XLDPP|XLPP +GARD:0017756,Orphanet,ORPHA:443804,Subtype of disorder,Clinical subtype,Focal stiff limb syndrome,Focal stiff-person syndrome|Stiff leg syndrome +GARD:0017757,Orphanet,ORPHA:443988,Disorder,Disease,Ventriculomegaly-cystic kidney disease,Congenital nephrosis-cerebral ventriculomegaly syndrome|VMCKD +GARD:0017758,Orphanet,ORPHA:443995,Disorder,Malformation syndrome,Mandibulofacial dysostosis with alopecia,MFDA +GARD:0017759,Orphanet,ORPHA:444013,Disorder,Disease,Combined oxidative phosphorylation defect type 23,COXPD23 +GARD:0017760,Orphanet,ORPHA:444048,Disorder,Disease,"46,XX ovarian dysgenesis-short stature syndrome", +GARD:0017761,Orphanet,ORPHA:444072,Disorder,Malformation syndrome,Cerebellar-facial-dental syndrome,Cerebellofaciodental syndrome +GARD:0017762,Orphanet,ORPHA:444092,Disorder,Disease,Autoimmune interstitial lung disease-arthritis syndrome,COPA syndrome +GARD:0017763,Orphanet,ORPHA:444099,Disorder,Disease,Autosomal dominant spastic paraplegia type 73,SPG73 +GARD:0017764,Orphanet,ORPHA:444138,Disorder,Disease,Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,PLACK syndrome +GARD:0017765,Orphanet,ORPHA:444458,Disorder,Disease,Combined oxidative phosphorylation defect type 24,COXPD24 +GARD:0017766,Orphanet,ORPHA:444463,Disorder,Disease,Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome,"Evans syndrome associated with primary immunodeficiency|TPPII deficiency|TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease|TRIANGLE disease|Tripeptidyl-peptidase II deficiency" +GARD:0017767,Orphanet,ORPHA:445038,Disorder,Disease,3-methylglutaconic aciduria type 7,3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|MGA7 +GARD:0017768,Orphanet,ORPHA:445062,Disorder,Disease,Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome|Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome +GARD:0017769,Orphanet,ORPHA:445110,Disorder,Disease,Limb-girdle muscular dystrophy due to POMK deficiency,LGMD due to POMK deficiency +GARD:0017770,Orphanet,ORPHA:447760,Disorder,Disease,Autosomal recessive spastic paraplegia type 9B,AR-SPG9B +GARD:0017771,Orphanet,ORPHA:447784,Disorder,Disease,Mitochondrial pyruvate carrier deficiency, +GARD:0017772,Orphanet,ORPHA:447877,Subtype of disorder,Clinical subtype,Polymerase proofreading-related adenomatous polyposis,PPAP +GARD:0017773,Orphanet,ORPHA:447893,Subtype of disorder,Clinical subtype,Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome, +GARD:0017774,Orphanet,ORPHA:447896,Subtype of disorder,Clinical subtype,Tremor-ataxia-central hypomyelination syndrome,TACH syndrome +GARD:0017775,Orphanet,ORPHA:447954,Disorder,Disease,Combined oxidative phosphorylation defect type 25,COXPD25 +GARD:0017776,Orphanet,ORPHA:447961,Disorder,Disease,Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome, +GARD:0017777,Orphanet,ORPHA:447964,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2V,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation|CMT2V|Hereditary adult-onset painful axonal polyneuropathy +GARD:0017778,Orphanet,ORPHA:447974,Disorder,Malformation syndrome,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, +GARD:0017779,Orphanet,ORPHA:447977,Disorder,Disease,Progressive scapulohumeroperoneal distal myopathy, +GARD:0017780,Orphanet,ORPHA:448251,Disorder,Disease,Progressive autosomal recessive ataxia-deafness syndrome,Lichtenstein-Knorr syndrome|Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome|SCAR19 +GARD:0017781,Orphanet,ORPHA:448264,Disorder,Disease,Isolated focal non-epidermolytic palmoplantar keratoderma, +GARD:0017782,Orphanet,ORPHA:448267,Disorder,Malformation syndrome,Regressive spondylometaphyseal dysplasia, +GARD:0017783,Orphanet,ORPHA:449291,Disorder,Disease,Symptomatic form of fragile X syndrome in female carriers, +GARD:0017784,Orphanet,ORPHA:451612,Disorder,Morphological anomaly,Familial congenital nasolacrimal duct obstruction, +GARD:0017785,Orphanet,ORPHA:453499,Disorder,Malformation syndrome,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome,Au-Kline syndrome +GARD:0017786,Orphanet,ORPHA:453521,Disorder,Disease,Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,SCAR17|Spinocerebellar ataxia autosomal recessive type 17 +GARD:0017787,Orphanet,ORPHA:453533,Disorder,Disease,Polyendocrine-polyneuropathy syndrome, +GARD:0017788,Orphanet,ORPHA:454700,Group of disorders,Clinical group,Acquired Creutzfeldt-Jakob disease, +GARD:0017789,Orphanet,ORPHA:454821,Subtype of disorder,Histopathological subtype,Pleomorphic salivary gland adenoma, +GARD:0017790,Orphanet,ORPHA:454840,Subtype of disorder,Clinical subtype,NTHL1-related attenuated familial adenomatous polyposis,NTHL1-related AFAP|NTHL1-related attenuated FAP +GARD:0017791,Orphanet,ORPHA:456312,Disorder,Disease,Infantile multisystem neurologic-endocrine-pancreatic disease,IMNEPD +GARD:0017792,Orphanet,ORPHA:456328,Disorder,Disease,X-linked myotubular myopathy-abnormal genitalia syndrome,Xq28 contiguous gene deletion syndrome +GARD:0017793,Orphanet,ORPHA:456369,Disorder,Disease,Polyglucosan body myopathy type 2, +GARD:0017794,Orphanet,ORPHA:457050,Disorder,Disease,Autosomal dominant mitochondrial myopathy with exercise intolerance, +GARD:0017795,Orphanet,ORPHA:457088,Disorder,Disease,Predisposition to invasive fungal disease due to CARD9 deficiency,Invasive candidiasis-deep dermatophytosis syndrome +GARD:0017796,Orphanet,ORPHA:457185,Disorder,Disease,Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,COQ4-related neonatal encephalomyopathy +GARD:0017797,Orphanet,ORPHA:457193,Disorder,Malformation syndrome,Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, +GARD:0017798,Orphanet,ORPHA:457212,Disorder,Disease,Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome, +GARD:0017799,Orphanet,ORPHA:457223,Disorder,Disease,Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,Syndromic sensorineural deafness due to COXPD|Syndromic sensorineural hearing loss due to COXPD +GARD:0017800,Orphanet,ORPHA:457240,Disorder,Malformation syndrome,X-linked intellectual disability-short stature-overweight syndrome, +GARD:0017801,Orphanet,ORPHA:457265,Disorder,Disease,Progressive myoclonic epilepsy type 9,EPM9|PME type 9|Progressive myoclonic epilepsy due to LMNB2 deficiency|Progressive myoclonus epilepsy type 9 +GARD:0017802,Orphanet,ORPHA:457279,Disorder,Malformation syndrome,Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome, +GARD:0017803,Orphanet,ORPHA:457284,Disorder,Malformation syndrome,Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, +GARD:0017804,Orphanet,ORPHA:457351,Disorder,Malformation syndrome,Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome +GARD:0017805,Orphanet,ORPHA:457359,Disorder,Malformation syndrome,Megalencephaly-severe kyphoscoliosis-overgrowth syndrome, +GARD:0017806,Orphanet,ORPHA:457375,Disorder,Disease,ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,Martsolf-like syndrome +GARD:0017807,Orphanet,ORPHA:457378,Disorder,Malformation syndrome,Complex lethal osteochondrodysplasia,"Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type" +GARD:0017808,Orphanet,ORPHA:457395,Disorder,Malformation syndrome,Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome, +GARD:0017809,Orphanet,ORPHA:457406,Disorder,Disease,Multiple mitochondrial dysfunctions syndrome type 4,MMDS4 +GARD:0017810,Orphanet,ORPHA:458798,Disorder,Disease,Spinocerebellar ataxia type 41,SCA41 +GARD:0017811,Orphanet,ORPHA:458803,Disorder,Disease,Spinocerebellar ataxia type 42,SCA42 +GARD:0017812,Orphanet,ORPHA:459051,Disorder,Disease,"Spondyloepiphyseal dysplasia, Stanescu type","SED, Stanescu type" +GARD:0017813,Orphanet,ORPHA:459056,Disorder,Disease,Autosomal recessive spastic paraplegia type 75,SPG75 +GARD:0017814,Orphanet,ORPHA:459061,Disorder,Malformation syndrome,Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,Developmental delay-short stature-dysmorphic features-sparse hair syndrome|Loucks-Innes syndrome +GARD:0017815,Orphanet,ORPHA:459070,Disorder,Malformation syndrome,X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome, +GARD:0017816,Orphanet,ORPHA:464282,Disorder,Disease,Spastic paraplegia-severe developmental delay-epilepsy syndrome,SPPRS syndrome|Spastic paraplegia-psychomotor retardation-seizures syndrome +GARD:0017817,Orphanet,ORPHA:464288,Disorder,Malformation syndrome,Short stature-brachydactyly-obesity-global developmental delay syndrome,SBIDDS +GARD:0017818,Orphanet,ORPHA:464366,Disorder,Malformation syndrome,NEK9-related lethal skeletal dysplasia,Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome +GARD:0017819,Orphanet,ORPHA:464440,Disorder,Disease,"Primary dystonia, DYT27 type", +GARD:0017820,Orphanet,ORPHA:464724,Disorder,Disease,Fever-associated acute infantile liver failure syndrome, +GARD:0017821,Orphanet,ORPHA:464738,Disorder,Malformation syndrome,Basel-Vanagaite-Smirin-Yosef syndrome, +GARD:0017822,Orphanet,ORPHA:464760,Disorder,Morphological anomaly,Familial cavitary optic disc anomaly,Familial CODA +GARD:0017823,Orphanet,ORPHA:465824,Disorder,Malformation syndrome,Fetal encasement syndrome, +GARD:0017824,Orphanet,ORPHA:466688,Disorder,Malformation syndrome,Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, +GARD:0017825,Orphanet,ORPHA:466703,Disorder,Disease,TMEM199-CDG,CDG syndrome type IIp|CDG-IIp|CDG2P|Carbohydrate deficient glycoprotein syndrome type IIp|Congenital disorder of glycosylation type 2p|Congenital disorder of glycosylation type IIp +GARD:0017826,Orphanet,ORPHA:466718,Disorder,Disease,Martinique crinkled retinal pigment epitheliopathy,MCRPE +GARD:0017827,Orphanet,ORPHA:466722,Disorder,Disease,Autosomal recessive spastic paraplegia type 77,SPG77 +GARD:0017828,Orphanet,ORPHA:466729,Disorder,Morphological anomaly,Familial patent arterial duct, +GARD:0017829,Orphanet,ORPHA:466768,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2Z,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation|CMT2Z +GARD:0017830,Orphanet,ORPHA:466775,Disorder,Disease,Autosomal recessive Charcot-Marie-Tooth disease type 2X,ARCMT2X|Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation|CMT2X +GARD:0017831,Orphanet,ORPHA:466784,Disorder,Disease,Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,COXPD28|Combined oxidative phosphorylation defect type 28 +GARD:0017832,Orphanet,ORPHA:466791,Disorder,Malformation syndrome,Macrocephaly-intellectual disability-left ventricular non compaction syndrome, +GARD:0017833,Orphanet,ORPHA:466794,Disorder,Disease,Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,Autosomal recessive spinocerebellar ataxia type 21|SCAR21 +GARD:0017834,Orphanet,ORPHA:466801,Disorder,Disease,LIMS2-related limb-girdle muscular dystrophy,Autosomal recessive limb-girdle muscular dystrophy type 2W|LGMD type 2W|LGMD2W|LIMS2-related LGM|Limb-girdle muscular dystrophy type 2W +GARD:0017835,Orphanet,ORPHA:466806,Disorder,Disease,Autosomal dominant thrombocytopenia with platelet secretion defect, +GARD:0017836,Orphanet,ORPHA:466926,Disorder,Disease,Seizures-scoliosis-macrocephaly syndrome,SSM syndrome +GARD:0017837,Orphanet,ORPHA:466934,Disorder,Disease,VPS11-related autosomal recessive hypomyelinating leukodystrophy,VPS11-related autosomal recessive hypomyelinating leukoencephalopathy +GARD:0017838,Orphanet,ORPHA:466943,Disorder,Malformation syndrome,WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome, +GARD:0017839,Orphanet,ORPHA:466950,Subtype of disorder,Clinical subtype,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation, +GARD:0017840,Orphanet,ORPHA:467176,Disorder,Disease,Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome, +GARD:0017841,Orphanet,ORPHA:468631,Disorder,Malformation syndrome,Microcephalic cortical malformations-short stature due to RTTN deficiency, +GARD:0017842,Orphanet,ORPHA:468661,Disorder,Disease,Autosomal recessive spastic paraplegia type 74,SPG74 +GARD:0017843,Orphanet,ORPHA:468666,Disorder,Disease,Isolated generalized anhidrosis with normal sweat glands, +GARD:0017844,Orphanet,ORPHA:468672,Disorder,Disease,Colobomatous macrophthalmia-microcornea syndrome,MACOM syndrome +GARD:0017845,Orphanet,ORPHA:468684,Disorder,Disease,CCDC115-CDG,CDG syndrome type IIo|CDG-IIo|CDG2O|Carbohydrate deficient glycoprotein syndrome type IIo|Congenital disorder of glycosylation type 2o|Congenital disorder of glycosylation type IIo +GARD:0017846,Orphanet,ORPHA:468699,Disorder,Disease,SLC39A8-CDG,CDG syndrome type IIn|CDG-IIn|CDG2N|Carbohydrate deficient glycoprotein syndrome type IIn|Congenital disorder of glycosylation type 2n|Congenital disorder of glycosylation type IIn|SLC39A8 deficiency +GARD:0017847,Orphanet,ORPHA:476084,Disorder,Disease,BVES-related limb-girdle muscular dystrophy,Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome|BVES-related LGMD|LGMD type 2X|LGMD2X|Limb-girdle muscular dystrophy 2X +GARD:0017848,Orphanet,ORPHA:476102,Disorder,Disease,Hereditary pediatric Behçet-like disease,Behçet-like disease due to HA20|Behçet-like disease due to haploinsufficiency of A20 +GARD:0017849,Orphanet,ORPHA:476113,Disorder,Disease,Combined immunodeficiency due to TFRC deficiency,CID due to TFRC deficiency|TFRC-related combined immunodeficiency +GARD:0017850,Orphanet,ORPHA:476126,Disorder,Malformation syndrome,Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, +GARD:0017851,Orphanet,ORPHA:476394,Disorder,Disease,PMP2-related Charcot-Marie-Tooth disease type 1,PMP2-related CMT1|PMP2-related Charcot-Marie-Tooth neuropathy type 1|PMP2-related hereditary motor and sensory neuropathy type 1 +GARD:0017852,Orphanet,ORPHA:477661,Disorder,Disease,IL21-related infantile inflammatory bowel disease,IL21-related infantile IBD +GARD:0017853,Orphanet,ORPHA:477673,Disorder,Disease,Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome, +GARD:0017854,Orphanet,ORPHA:477684,Disorder,Disease,Combined oxidative phosphorylation defect type 26,COXPD26 +GARD:0017855,Orphanet,ORPHA:477749,Disorder,Disease,Pontine autosomal dominant microangiopathy with leukoencephalopathy,PADMAL +GARD:0017856,Orphanet,ORPHA:477774,Disorder,Disease,Combined oxidative phosphorylation defect type 27,COXPD27 +GARD:0017857,Orphanet,ORPHA:477787,Disorder,Disease,Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,PLA2G4A-related platelet dysfunction|Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency +GARD:0017858,Orphanet,ORPHA:477814,Disorder,Malformation syndrome,Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, +GARD:0017859,Orphanet,ORPHA:477817,Disorder,Malformation syndrome,PMP22-RAI1 contiguous gene duplication syndrome,17p11.2p12 microduplication syndrome|Dup(17)(p11.2p12)|Trisomy 17p11.2-p12|Trisomy 17p11.2p12|Yuan-Harel-Lupski syndrome +GARD:0017860,Orphanet,ORPHA:477831,Disorder,Malformation syndrome,Kosaki overgrowth syndrome,Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +GARD:0017861,Orphanet,ORPHA:477857,Disorder,Disease,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,Autosomal recessive MSMD due to complete RORgamma receptor defiency|Autosomal recessive primary immunodeficiency due to RORC mutation +GARD:0017862,Orphanet,ORPHA:477993,Disorder,Malformation syndrome,Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome +GARD:0017863,Orphanet,ORPHA:478029,Disorder,Disease,Combined oxidative phosphorylation defect type 29,COXPD29 +GARD:0017864,Orphanet,ORPHA:478042,Disorder,Disease,Combined oxidative phosphorylation defect type 30,COXPD30 +GARD:0017865,Orphanet,ORPHA:478049,Disorder,Disease,Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, +GARD:0017866,Orphanet,ORPHA:478664,Disorder,Disease,Hereditary sensory and autonomic neuropathy type 8,HSAN8|Hereditary sensory and autonomic neuropathy type VIII +GARD:0017867,Orphanet,ORPHA:480476,Subtype of disorder,Clinical subtype,Progressive familial intrahepatic cholestasis type 5,NR1H4 deficiency|PFIC5 +GARD:0017868,Orphanet,ORPHA:480536,Subtype of disorder,Clinical subtype,MSH3-related attenuated familial adenomatous polyposis,MSH3-related AFAP|MSH3-related attenuated FAP|MSH3-related attenuated familial polyposis coli +GARD:0017869,Orphanet,ORPHA:480682,Disorder,Disease,POGLUT1-related limb-girdle muscular dystrophy R21,Autosomal recessive limb-girdle muscular dystrophy type 2Z|LGMD type 2Z|LGMD2Z|Limb-girdle muscular dystrophy type 2Z|POGLUT1-related LGMD R21 +GARD:0017870,Orphanet,ORPHA:480851,Disorder,Disease,Hereditary thrombocytopenia with early-onset myelofibrosis, +GARD:0017871,Orphanet,ORPHA:480898,Disorder,Disease,Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, +GARD:0017872,Orphanet,ORPHA:480907,Disorder,Malformation syndrome,X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome, +GARD:0017873,Orphanet,ORPHA:481152,Disorder,Malformation syndrome,PYCR2-related microcephaly-progressive leukoencephalopathy, +GARD:0017874,Orphanet,ORPHA:481662,Disorder,Disease,Familial Chilblain lupus, +GARD:0017875,Orphanet,ORPHA:481665,Disorder,Disease,USP18 deficiency, +GARD:0017876,Orphanet,ORPHA:481986,Subtype of disorder,Etiological subtype,Familial schizencephaly, +GARD:0017877,Orphanet,ORPHA:482077,Disorder,Disease,HTRA1-related autosomal dominant cerebral small vessel disease,HTRA1-related autosomal dominant cerebral angiopathy +GARD:0017878,Orphanet,ORPHA:482601,Disorder,Disease,Adenylosuccinate synthetase-like 1-related distal myopathy,ADSSL1-related distal myopathy +GARD:0017879,Orphanet,ORPHA:485275,Subtype of disorder,Etiological subtype,Acquired schizencephaly, +GARD:0017880,Orphanet,ORPHA:485350,Disorder,Disease,CLCN4-related X-linked intellectual disability syndrome,Raynaud-Claes syndrome +GARD:0017881,Orphanet,ORPHA:485421,Subtype of disorder,Etiological subtype,MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome|Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome +GARD:0017882,Orphanet,ORPHA:486811,Disorder,Disease,Prenatal-onset spinal muscular atrophy with congenital bone fractures,SMABF +GARD:0017883,Orphanet,ORPHA:486815,Disorder,Disease,Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,"Congenital muscular dystrophy, Davignon-Chauveau type" +GARD:0017884,Orphanet,ORPHA:487796,Disorder,Malformation syndrome,Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome,Takenouchi-Kosaki syndrome +GARD:0017885,Orphanet,ORPHA:487825,Disorder,Malformation syndrome,Pierpont syndrome,Plantar lipomatosis-facial dysmorphism-developmental delay syndrome|Plantar lipomatosis-unusual facies-developmental delay syndrome +GARD:0017886,Orphanet,ORPHA:488168,Disorder,Malformation syndrome,Microcephaly-congenital cataract-psoriasiform dermatitis syndrome,SMO deficiency|Sterol-C4-methyl oxidase deficiency +GARD:0017887,Orphanet,ORPHA:488191,Disorder,Disease,Female infertility due to oocyte meiotic arrest, +GARD:0017888,Orphanet,ORPHA:488197,Disorder,Disease,Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome, +GARD:0017889,Orphanet,ORPHA:488232,Disorder,Malformation syndrome,Split-foot malformation-mesoaxial polydactyly syndrome,SFMMP|Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome +GARD:0017890,Orphanet,ORPHA:488280,Disorder,Disease,14q32 duplication syndrome,Dup(14)q(32)|Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication|Trisomy 14q32 +GARD:0017891,Orphanet,ORPHA:488333,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2W,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation|CMT2W +GARD:0017892,Orphanet,ORPHA:488594,Disorder,Disease,Autosomal recessive spastic paraplegia type 76,SPG76 +GARD:0017893,Orphanet,ORPHA:488613,Disorder,Malformation syndrome,Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome, +GARD:0017894,Orphanet,ORPHA:488618,Disorder,Malformation syndrome,Transketolase deficiency,Short stature-developmental delay-congenital heart defect syndrome|TKT deficiency +GARD:0017895,Orphanet,ORPHA:488627,Disorder,Malformation syndrome,Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, +GARD:0017896,Orphanet,ORPHA:488632,Disorder,Malformation syndrome,TBCK-related intellectual disability syndrome, +GARD:0017897,Orphanet,ORPHA:488635,Disorder,Disease,Early-onset epilepsy-intellectual disability-brain anomalies syndrome,Congenital disorder of glycosylation due to PIGG deficiency|PIGG-CDG +GARD:0017898,Orphanet,ORPHA:488642,Disorder,Malformation syndrome,TELO2-related intellectual disability-neurodevelopmental disorder,You-Hoover-Fong syndrome +GARD:0017899,Orphanet,ORPHA:488647,Disorder,Disease,DDX41-related hematologic malignancy predisposition syndrome, +GARD:0017900,Orphanet,ORPHA:488650,Disorder,Disease,"Distal myopathy, Tateyama type", +GARD:0017901,Orphanet,ORPHA:493348,Disorder,Disease,Vibratory angioedema, +GARD:0017902,Orphanet,ORPHA:494344,Disorder,Malformation syndrome,RERE-related neurodevelopmental syndrome, +GARD:0017903,Orphanet,ORPHA:494439,Disorder,Malformation syndrome,Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome +GARD:0017904,Orphanet,ORPHA:494444,Disorder,Disease,DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,DIAPH1-related sensorineural deafness-thrombocytopenia syndrome +GARD:0017905,Orphanet,ORPHA:494526,Disorder,Disease,Infantile-onset generalized dyskinesia with orofacial involvement,Infantile-onset orofacial-trunk-limbs dyskinesia +GARD:0017906,Orphanet,ORPHA:494541,Disorder,Disease,Childhood-onset benign chorea with striatal involvement, +GARD:0017907,Orphanet,ORPHA:494547,Disorder,Disease,Squamous cell carcinoma of the hypopharynx, +GARD:0017908,Orphanet,ORPHA:494550,Disorder,Disease,Squamous cell carcinoma of the larynx, +GARD:0017909,Orphanet,ORPHA:495274,Disorder,Disease,Charcot-Marie-Tooth disease type 2T,AR-CMT2T|Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T|CMT2T +GARD:0017910,Orphanet,ORPHA:495844,Disorder,Disease,C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy|Hypomyelinating leukodystrophy due to hikeshi deficiency +GARD:0017911,Orphanet,ORPHA:496641,Disorder,Malformation syndrome,Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, +GARD:0017912,Orphanet,ORPHA:496686,Disorder,Disease,Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome, +GARD:0017913,Orphanet,ORPHA:496751,Disorder,Malformation syndrome,EVEN-plus syndrome,Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome +GARD:0017914,Orphanet,ORPHA:496756,Disorder,Disease,Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome, +GARD:0017915,Orphanet,ORPHA:496790,Disorder,Disease,Ocular anomalies-axonal neuropathy-developmental delay syndrome,Harel-Yoon syndrome +GARD:0017916,Orphanet,ORPHA:497757,Disorder,Disease,MME-related autosomal dominant Charcot Marie Tooth disease type 2,MME-related autosomal dominant CMT2|MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 +GARD:0017917,Orphanet,ORPHA:497764,Disorder,Disease,Spinocerebellar ataxia type 43,SCA43 +GARD:0017918,Orphanet,ORPHA:497906,Disorder,Disease,Childhood-onset basal ganglia degeneration syndrome,Lenk-Ploski syndrome +GARD:0017919,Orphanet,ORPHA:498497,Disorder,Malformation syndrome,Short rib-polydactyly syndrome type 5, +GARD:0017920,Orphanet,ORPHA:500055,Disorder,Malformation syndrome,16p13.2 microdeletion syndrome,Del(16)(p13.2)|Monosomy 16p13.2 +GARD:0017921,Orphanet,ORPHA:500095,Disorder,Malformation syndrome,Tall stature-intellectual disability-renal anomalies syndrome,Thauvin-Robinet-Faivre syndrome +GARD:0017922,Orphanet,ORPHA:500135,Disorder,Malformation syndrome,Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,MARCH syndrome +GARD:0017923,Orphanet,ORPHA:500144,Disorder,Malformation syndrome,Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, +GARD:0017924,Orphanet,ORPHA:500159,Disorder,Malformation syndrome,Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom, +GARD:0017925,Orphanet,ORPHA:500166,Subtype of disorder,Etiological subtype,SIN3A-related intellectual disability syndrome due to a point mutation, +GARD:0017926,Orphanet,ORPHA:500188,Disorder,Malformation syndrome,X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome, +GARD:0017927,Orphanet,ORPHA:500464,Disorder,Disease,Squamous cell carcinoma of the nasal cavity and paranasal sinuses,Squamous cell carcinoma of the nasal cavity and sinuses +GARD:0017928,Orphanet,ORPHA:500478,Disorder,Disease,Squamous cell carcinoma of the oropharynx, +GARD:0017929,Orphanet,ORPHA:500481,Subtype of disorder,Histopathological subtype,Squamous cell carcinoma of salivary glands, +GARD:0017930,Orphanet,ORPHA:500545,Disorder,Disease,Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract, +GARD:0017931,Orphanet,ORPHA:500548,Disorder,Malformation syndrome,Osteosclerotic metaphyseal dysplasia, +GARD:0017932,Orphanet,ORPHA:502363,Disorder,Disease,Squamous cell carcinoma of the oral cavity, +GARD:0017933,Orphanet,ORPHA:502366,Disorder,Disease,Squamous cell carcinoma of the lip, +GARD:0017934,Orphanet,ORPHA:502423,Disorder,Disease,Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome +GARD:0017935,Orphanet,ORPHA:502434,Disorder,Malformation syndrome,STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome, +GARD:0017936,Orphanet,ORPHA:502444,Disorder,Disease,Alkaline ceramidase 3 deficiency,ACER3-related early childhood-onset progressive leukodystrophy|Leukodystrophy due to alkaline ceramidase 3 deficiency +GARD:0017937,Orphanet,ORPHA:504476,Disorder,Disease,Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,CABV syndrome|CANVAS|Cerebellar ataxia with bilateral vestibulopathy syndrome +GARD:0017938,Orphanet,ORPHA:504523,Disorder,Disease,Severe combined immunodeficiency due to LAT deficiency,SCID due to LAT deficiency +GARD:0017939,Orphanet,ORPHA:504530,Disorder,Disease,Combined immunodeficiency due to Moesin deficiency,CID due to Moesin deficiency|MSN-related combined immunodeficiency|X-linked Moesin-associated immunodeficiency +GARD:0017940,Orphanet,ORPHA:505216,Disorder,Disease,3-methylglutaconic aciduria type 9,3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|MGA9 +GARD:0017941,Orphanet,ORPHA:505227,Disorder,Disease,Combined immunodeficiency due to GINS1 deficiency,CID due to GINS1 deficiency|Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia|Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia +GARD:0017942,Orphanet,ORPHA:505237,Disorder,Malformation syndrome,Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome, +GARD:0017943,Orphanet,ORPHA:505242,Disorder,Disease,Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,"Cerebrorenal syndrome, Perez type" +GARD:0017944,Orphanet,ORPHA:505248,Disorder,Malformation syndrome,Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,Mucopolysaccharidosis-like plus disease +GARD:0017945,Orphanet,ORPHA:506307,Disorder,Malformation syndrome,Stromme syndrome,Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome|Jejunal atresia-microcephaly-ocular anomalies syndrome +GARD:0017946,Orphanet,ORPHA:506353,Disorder,Disease,Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,Autosomal recessive complex SPG due to Kennedy pathway dysfunction +GARD:0017947,Orphanet,ORPHA:506358,Disorder,Malformation syndrome,Gabriele-de Vries syndrome,YY1 haploinsufficiency syndrome +GARD:0017948,Orphanet,ORPHA:508498,Disorder,Malformation syndrome,Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome, +GARD:0017949,Orphanet,ORPHA:508512,Disorder,Disease,Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome, +GARD:0017950,Orphanet,ORPHA:508523,Disorder,Disease,Hyperphenylalaninemia due to DNAJC12 deficiency,Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia +GARD:0017951,Orphanet,ORPHA:508529,Disorder,Disease,Intermediate epidermolysis bullosa simplex with cardiomyopathy,Intermediate EBS with cardiomyopathy +GARD:0017952,Orphanet,ORPHA:513436,Disorder,Disease,Autosomal recessive spastic paraplegia type 78,SPG78 +GARD:0017953,Orphanet,ORPHA:513456,Disorder,Disease,Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,Skraban-Deardorff syndrome +GARD:0017954,Orphanet,ORPHA:519388,Disorder,Malformation syndrome,Autosomal recessive anterior segment dysgenesis, +GARD:0017955,Orphanet,ORPHA:521258,Disorder,Malformation syndrome,Xq25 microduplication syndrome,Dup(X)(q25)|Xq25 microtriplication +GARD:0017956,Orphanet,ORPHA:521305,Disorder,Disease,Proximal myopathy with focal depletion of mitochondria, +GARD:0017957,Orphanet,ORPHA:521390,Disorder,Malformation syndrome,Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,SINO syndrome +GARD:0017958,Orphanet,ORPHA:521406,Disorder,Disease,Dystonia-parkinsonism-hypermanganesemia syndrome, +GARD:0017959,Orphanet,ORPHA:521414,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2DD,ATP1A1-related CMT2|ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2|CMT2DD +GARD:0017960,Orphanet,ORPHA:521426,Disorder,Malformation syndrome,PLAA-associated neurodevelopmental disorder,PLAAND +GARD:0017961,Orphanet,ORPHA:521438,Disorder,Malformation syndrome,Congenital vertebral-cardiac-renal anomalies syndrome,Congenital NAD deficiency disorder +GARD:0017962,Orphanet,ORPHA:522077,Disorder,Disease,Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,SYT1-related neurodevelopmental disorder +GARD:0017963,Orphanet,ORPHA:527450,Disorder,Malformation syndrome,Severe myopia-generalized joint laxity-short stature syndrome, +GARD:0017964,Orphanet,ORPHA:527497,Disorder,Disease,NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia|SPAX8 +GARD:0017965,Orphanet,ORPHA:528084,Disorder,Disease,Non-specific syndromic intellectual disability,Complex neurodevelopmental disorder +GARD:0017966,Orphanet,ORPHA:528091,Disorder,Disease,Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, +GARD:0017967,Orphanet,ORPHA:528105,Disorder,Disease,Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,HELIX syndrome +GARD:0017968,Orphanet,ORPHA:529574,Disorder,Malformation syndrome,Duane retraction syndrome with congenital deafness,DRS with deafness|DRS with hearing loss|DURS with deafness|DURS with hearing loss|Duane retraction syndrome with congenital hearing loss +GARD:0017969,Orphanet,ORPHA:529665,Disorder,Malformation syndrome,Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,GPAA1-related biosynthesis defect +GARD:0017970,Orphanet,ORPHA:529965,Disorder,Malformation syndrome,Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,Pilarowski-Bjornsson syndrome +GARD:0017971,Orphanet,ORPHA:529970,Subtype of disorder,Clinical subtype,Male infertility due to acephalic spermatozoa,Acephalic spermatozoa syndrome +GARD:0017972,Orphanet,ORPHA:530995,Disorder,Disease,Mixed phenotype acute leukemia,MPAL +GARD:0017973,Orphanet,ORPHA:535458,Subtype of disorder,Etiological subtype,Familial GPIHBP1 deficiency,Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency +GARD:0017974,Orphanet,ORPHA:536467,Subtype of disorder,Clinical subtype,B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,B3GALT6-related spEDS|B3GALT6-related spondylodysplastic EDS|Beta3GalT6-deficient EDS|Ehlers-Danlos syndrome progeroid type 2|spEDS-B3GALT6 +GARD:0017975,Orphanet,ORPHA:536532,Disorder,Disease,Classical-like Ehlers-Danlos syndrome type 2,AEBP1-related EDS|AEBP1-related Ehlers-Danlos syndrome|Classical-like EDS type 2|clEDS type 2 +GARD:0017976,Orphanet,ORPHA:538096,Disorder,Disease,Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy, +GARD:0017977,Orphanet,ORPHA:538574,Disorder,Disease,Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome +GARD:0017978,Orphanet,ORPHA:538958,Disorder,Disease,Combined immunodeficiency due to CD70 deficiency,CID due to CD70 deficiency +GARD:0017979,Orphanet,ORPHA:538963,Disorder,Disease,Combined immunodeficiency due to ITK deficiency,Autosomal recessive lymphoproliferative disease due to ITK deficiency|ITK deficiency +GARD:0017980,Orphanet,ORPHA:541423,Disorder,Disease,Growth delay-intellectual disability-hepatopathy syndrome, +GARD:0017981,Orphanet,ORPHA:542301,Disorder,Disease,Combined immunodeficiency due to CARMIL2 deficiency,Combined immunodeficiency due to RLTPR deficiency +GARD:0017982,Orphanet,ORPHA:542306,Disorder,Disease,GNB5-related intellectual disability-cardiac arrhythmia syndrome, +GARD:0017983,Orphanet,ORPHA:542585,Disorder,Disease,Auditory neuropathy-optic atrophy syndrome, +GARD:0017984,Orphanet,ORPHA:542657,Disorder,Disease,Isolated hyperchlorhidrosis,Carbonic anhydrase XII deficiency +GARD:0017985,Orphanet,ORPHA:544469,Disorder,Malformation syndrome,PRUNE1-related neurological syndrome, +GARD:0017986,Orphanet,ORPHA:544472,Subtype of disorder,Etiological subtype,Atypical hemolytic uremic syndrome with complement gene abnormality,Atypical HUS with complement gene abnormality|aHUS with complement gene abnormality +GARD:0017987,Orphanet,ORPHA:544488,Disorder,Disease,Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,Bachmann-Bupp syndrome|Ornithine decarboxylase deficiency +GARD:0017988,Orphanet,ORPHA:544503,Disorder,Disease,RNF13-related severe early-onset epileptic encephalopathy,RNF13-related severe EOEE +GARD:0017989,Orphanet,ORPHA:544602,Disorder,Disease,Congenital myopathy with reduced type 2 muscle fibers,Congenital myopathy with fast-twitch fiber atrophy|Congenital myopathy with reduced type II muscle fibers|Congenital myopathy with type 2 muscle fiber atrophy|Congenital myopathy with type II fiber atrophy +GARD:0017990,Orphanet,ORPHA:555402,Disorder,Disease,NAD(P)HX dehydratase deficiency,CARKD deficiency +GARD:0017991,Orphanet,ORPHA:555407,Disorder,Disease,NAD(P)HX epimerase deficiency,Apolipoprotein A-I binding protein deficiency +GARD:0017992,Orphanet,ORPHA:556955,Disorder,Disease,Pancreatic agenesis-holoprosencephaly syndrome, +GARD:0017993,Orphanet,ORPHA:557003,Disorder,Disease,Oculocerebrodental syndrome,Oculo-cerebro-dental syndrome +GARD:0017994,Orphanet,ORPHA:557064,Disorder,Disease,Neonatal epileptic encephalopathy due to glutaminase deficiency, +GARD:0017995,Orphanet,ORPHA:562509,Disorder,Disease,Heme oxygenase-1 deficiency,HO-1 deficiency +GARD:0017996,Orphanet,ORPHA:562538,Disorder,Disease,Autosomal recessive extra-oral halitosis,MTO-deficiency|Methanethiol oxidase deficiency +GARD:0017997,Orphanet,ORPHA:562559,Disorder,Malformation syndrome,Anterior maxillary protrusion-strabismus-intellectual disability syndrome,MRAMS syndrome +GARD:0017998,Orphanet,ORPHA:562569,Disorder,Malformation syndrome,TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome, +GARD:0017999,Orphanet,ORPHA:565624,Disorder,Disease,Combined oxidative phosphorylation defect type 39,COXPD39|GFM2-related combined oxidative phosphorylation defect +GARD:0018000,Orphanet,ORPHA:565788,Disorder,Disease,Infantile inflammatory bowel disease with neurological involvement, +GARD:0018001,Orphanet,ORPHA:565858,Disorder,Malformation syndrome,Craniosynostosis-microretrognathia-severe intellectual disability syndrome, +GARD:0018002,Orphanet,ORPHA:566243,Disorder,Disease,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,RTHb|Resistance to thyroid hormone beta|Resistance to thyroid hormone due to a mutation in TRb +GARD:0018003,Orphanet,ORPHA:567548,Disorder,Clinical syndrome,Idiopathic steroid-resistant nephrotic syndrome,Idiopathic SRNS +GARD:0018004,Orphanet,ORPHA:569290,Disorder,Disease,Multiple mitochondrial dysfunctions syndrome type 6,PMPCB deficiency +GARD:0018005,Orphanet,ORPHA:570422,Disorder,Disease,Galactose mutarotase deficiency,GALM deficiency|Galactosemia type 4 +GARD:0018006,Orphanet,ORPHA:570491,Disorder,Disease,QRSL1-related combined oxidative phosphorylation defect,QRSL1-related COXPD +GARD:0018007,Orphanet,ORPHA:572013,Disorder,Malformation syndrome,Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome, +GARD:0018008,Orphanet,ORPHA:572354,Subtype of disorder,Clinical subtype,Blepharophimosis-ptosis-epicanthus inversus syndrome type 1,BPES type 1|Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure +GARD:0018009,Orphanet,ORPHA:572385,Subtype of disorder,Clinical subtype,Brachydactyly type B1, +GARD:0018010,Orphanet,ORPHA:572543,Subtype of disorder,Clinical subtype,RFVT2-related riboflavin transporter deficiency,RTD2|Riboflavin transporter deficiency 2 +GARD:0018011,Orphanet,ORPHA:572768,Subtype of disorder,Clinical subtype,Microcephaly-micromelia syndrome,MIMIS +GARD:0018012,Orphanet,ORPHA:572798,Disorder,Disease,WARS2-related combined oxidative phosphorylation defect,Mitochondrial tryptophanyl-tRNA synthetase deficiency +GARD:0018013,Orphanet,ORPHA:576283,Subtype of disorder,Etiological subtype,SATB2-associated syndrome due to a pathogenic variant,SATB2-associated syndrome due to a point mutation +GARD:0018014,Orphanet,ORPHA:576349,Disorder,Disease,NLRC4-related familial cold autoinflammatory syndrome,FCAS4|Familial cold autoinflammatory syndrome 4|NLRC4-related familial cold urticaria +GARD:0018015,Orphanet,ORPHA:580940,Disorder,Malformation syndrome,QRICH1-related intellectual disability-chondrodysplasia syndrome, +GARD:0018016,Orphanet,ORPHA:589435,Disorder,Malformation syndrome,Spondylometaphyseal dysplasia-corneal dystrophy syndrome,SMD-corneal dystrophy syndrome +GARD:0018017,Orphanet,ORPHA:597733,Disorder,Disease,Oculocutaneous albinism type 8,OCA8 +GARD:0018018,Orphanet,ORPHA:597874,Disorder,Disease,MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome, +GARD:0018019,Orphanet,ORPHA:598603,Disorder,Malformation syndrome,Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome,FHEIG syndrome +GARD:0018020,Orphanet,ORPHA:603448,Disorder,Malformation syndrome,Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome,CIMDAG syndrome +GARD:0018021,Orphanet,ORPHA:603494,Disorder,Malformation syndrome,Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome,COMMAD syndrome +GARD:0018022,Orphanet,ORPHA:610569,Disorder,Disease,KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome,Alkuraya-Kucinskas syndrome +GARD:0018023,Orphanet,ORPHA:610573,Disorder,Disease,CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome, +GARD:0018024,Orphanet,ORPHA:611201,Disorder,Malformation syndrome,Oculogastrointestinal-neurodevelopmental syndrome,OGIN Syndrome +GARD:0018025,Orphanet,ORPHA:611207,Disorder,Clinical syndrome,Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome,SHILCA syndrome +GARD:0018026,Orphanet,ORPHA:611216,Disorder,Disease,Aplastic anemia-intellectual disability-dwarfism syndrome,AMeD syndrome +GARD:0018027,Orphanet,ORPHA:611223,Disorder,Malformation syndrome,EN1-related dorsoventral syndrome,ENDOVE syndrome|ENDOVES +GARD:0018028,Orphanet,ORPHA:611237,Disorder,Disease,Parkinsonism with polyneuropathy, +GARD:0018029,Orphanet,ORPHA:611247,Disorder,Malformation syndrome,Pontocerebellar hypoplasia type 11,PCH11|Pontocerebellar hypoplasia due to TBC1D23 +GARD:0018030,Orphanet,ORPHA:611256,Disorder,Malformation syndrome,Pontocerebellar hypoplasia type 12,COASY-related pontocerebellar hypoplasia|PCH12 +GARD:0018031,Orphanet,ORPHA:613267,Disorder,Malformation syndrome,Pontocerebellar hypoplasia type 13,PCH13 +GARD:0018032,Orphanet,ORPHA:613274,Disorder,Malformation syndrome,Pontocerebellar hypoplasia type 14,PCH14 +GARD:0018033,Orphanet,ORPHA:615938,Disorder,Clinical syndrome,Spastic paraparesis-cataracts-speech delay syndrome,Fatty acyl-CoA reductase 1 superactivity +GARD:0018034,Orphanet,ORPHA:615954,Disorder,Clinical syndrome,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome,Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome|Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome +GARD:0018035,Orphanet,ORPHA:615964,Disorder,Disease,Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate,Acute reversible leukoencephalopathy due to SLC13A3 deficiency|Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency +GARD:0018036,Orphanet,ORPHA:615983,Subtype of disorder,Etiological subtype,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation, +GARD:0018037,Orphanet,ORPHA:615986,Subtype of disorder,Etiological subtype,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster,Lethal 1p36.33 deletion syndrome +GARD:0018038,Orphanet+OMIM,OMIM:606721,Subtype of disorder,Disease subtype,"Lipodystrophy, familial partial, type 7","Partial lipodystrophy, congenital cataracts, with or without neurodegeneration syndrome" +GARD:0018039,Orphanet+OMIM,OMIM:233300,Subtype of disorder,Malformation syndrome subtype,Ovarian dysgenesis 1,"gonadal dysgenesis, xx type|xx gonadal dysgenesis|ovarian failure, hypergonadotropic|Ovarian dysgenesis, hypergonadotropic, autosomal recessive|ovarian dysgenesis, hypergonadotropic, with normal karyotype" +GARD:0018040,Orphanet+OMIM,OMIM:300510,Subtype of disorder,Malformation syndrome subtype,Ovarian dysgenesis 2,"Ovarian dysgenesis, hypergonadotropic, x-linked|ovarian failure, hypergonadotropic, due to ovarian dysgenesis" +GARD:0018041,Orphanet+OMIM,OMIM:614324,Subtype of disorder,Malformation syndrome subtype,Ovarian dysgenesis 3, +GARD:0018042,Orphanet+OMIM,OMIM:618078,Subtype of disorder,Malformation syndrome subtype,Ovarian dysgenesis 6, +GARD:0018043,Orphanet+OMIM,OMIM:618117,Subtype of disorder,Malformation syndrome subtype,Ovarian dysgenesis 7, +GARD:0018044,Orphanet+OMIM,OMIM:618723,Subtype of disorder,Malformation syndrome subtype,Premature ovarian failure 16, +GARD:0018045,Orphanet+OMIM,OMIM:123100,Subtype of disorder,Morphological anomaly subtype,Craniosynostosis 1,craniostenosis|Crs +GARD:0018046,Orphanet+OMIM,OMIM:615529,Subtype of disorder,Morphological anomaly subtype,"Craniosynostosis 5, susceptibility to", +GARD:0018047,Orphanet+OMIM,OMIM:615314,Subtype of disorder,Morphological anomaly subtype,Craniosynostosis 3, +GARD:0018048,Orphanet+OMIM,OMIM:616602,Subtype of disorder,Morphological anomaly subtype,Craniosynostosis 6, +GARD:0018049,Orphanet+OMIM,OMIM:121400,Subtype of disorder,Morphological anomaly subtype,"Cornea plana 1, autosomal dominant", +GARD:0018050,Orphanet+OMIM,OMIM:217300,Subtype of disorder,Morphological anomaly subtype,"Cornea plana 2, autosomal recessive", +GARD:0018051,Orphanet+OMIM,OMIM:168500,Subtype of disorder,Malformation syndrome subtype,Parietal foramina 1,"parietal foramina, symmetric|Pfm|cranium bifidum, hereditary|catlin marks|cranium bifidum occultum|foramina parietalia permagna" +GARD:0018052,Orphanet+OMIM,OMIM:609566,Subtype of disorder,Malformation syndrome subtype,Parietal foramina 3, +GARD:0018053,Orphanet+OMIM,OMIM:609597,Subtype of disorder,Malformation syndrome subtype,Parietal foramina 2, +GARD:0018054,Orphanet+OMIM,OMIM:211400,Subtype of disorder,Disease subtype,Bronchiectasis with or without elevated sweat chloride 1,Cystic fibrosis-like syndrome +GARD:0018055,Orphanet+OMIM,OMIM:613021,Subtype of disorder,Disease subtype,Bronchiectasis with or without elevated sweat chloride 2,Cystic fibrosis-like syndrome +GARD:0018056,Orphanet+OMIM,OMIM:613071,Subtype of disorder,Disease subtype,Bronchiectasis with or without elevated sweat chloride 3,Cystic fibrosis-like syndrome +GARD:0018057,Orphanet+OMIM,OMIM:600131,Subtype of disorder,Disease subtype,"Epilepsy, childhood absence, susceptibility to, 1", +GARD:0018058,Orphanet+OMIM,OMIM:607681,Subtype of disorder,Disease subtype,"Febrile seizures, familial, 8", +GARD:0018059,Orphanet+OMIM,OMIM:611136,Subtype of disorder,Disease subtype,"Epilepsy, idiopathic generalized, susceptibility to, 13", +GARD:0018060,Orphanet+OMIM,OMIM:611942,Subtype of disorder,Disease subtype,"Epilepsy, childhood absence, susceptibility to, 6", +GARD:0018061,Orphanet+OMIM,OMIM:612269,Subtype of disorder,Disease subtype,"Epilepsy, childhood absence, susceptibility to, 5", +GARD:0018062,Orphanet+OMIM,OMIM:602032,Subtype of disorder,Malformation syndrome subtype,"Ectodermal dysplasia 4, hair/nail type","Ectodermal dysplasia, 'pure' hair/nail type" +GARD:0018063,Orphanet+OMIM,OMIM:614927,Subtype of disorder,Malformation syndrome subtype,"Ectodermal dysplasia 5, hair/nail type", +GARD:0018064,Orphanet+OMIM,OMIM:614928,Subtype of disorder,Malformation syndrome subtype,"Ectodermal dysplasia 6, hair/nail type", +GARD:0018065,Orphanet+OMIM,OMIM:614929,Subtype of disorder,Malformation syndrome subtype,"Ectodermal dysplasia 7, hair/nail type", +GARD:0018066,Orphanet+OMIM,OMIM:614931,Subtype of disorder,Malformation syndrome subtype,"Ectodermal dysplasia 9, hair/nail type", +GARD:0018067,Orphanet+OMIM,OMIM:618252,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 32", +GARD:0018068,Orphanet+OMIM,OMIM:605432,Subtype of disorder,Malformation syndrome subtype,Radioulnar synostosis with amegakaryocytic thrombocytopenia 1,"thrombocytopenia, congenital, with radioulnar synostosis|Rusat" +GARD:0018069,Orphanet+OMIM,OMIM:616738,Subtype of disorder,Malformation syndrome subtype,Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, +GARD:0018070,Orphanet+OMIM,OMIM:115210,Subtype of disorder,Disease subtype,"Cardiomyopathy, familial restrictive, 1",Rcm +GARD:0018071,Orphanet+OMIM,OMIM:609578,Subtype of disorder,Disease subtype,"Cardiomyopathy, familial restrictive, 2", +GARD:0018072,Orphanet+OMIM,OMIM:612422,Subtype of disorder,Disease subtype,"Cardiomyopathy, familial restrictive, 3", +GARD:0018073,Orphanet+OMIM,OMIM:145250,Subtype of disorder,Disease subtype,"Hyperpigmentation with or without hypopigmentation, familial progressive","hyperpigmentation, familial progressive, 2, formerly|Melanosis universalis hereditaria" +GARD:0018074,Orphanet+OMIM,OMIM:614233,Subtype of disorder,Disease subtype,"Hyperpigmentation, familial progressive, 1", +GARD:0018075,Orphanet+OMIM,OMIM:143470,Subtype of disorder,Disease subtype,Hyperalphalipoproteinemia 1,Cholesterol ester transfer protein deficiency|cetp deficiency +GARD:0018076,Orphanet+OMIM,OMIM:614028,Subtype of disorder,Disease subtype,Apolipoprotein c-iii deficiency,Hyperalphalipoproteinemia 2 +GARD:0018077,Orphanet+OMIM,OMIM:603387,Subtype of disorder,Malformation syndrome subtype,Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1,"meg-pmg-megacc syndrome|Megalencephaly, polymicrogyria, mega corpus callosum syndrome|megalencephaly, mega corpus callosum, and complete lack of motor development" +GARD:0018078,Orphanet+OMIM,OMIM:615937,Subtype of disorder,Malformation syndrome subtype,Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, +GARD:0018079,Orphanet+OMIM,OMIM:615938,Subtype of disorder,Malformation syndrome subtype,Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, +GARD:0018080,Orphanet+OMIM,OMIM:613550,Subtype of disorder,Disease subtype,Nephronophthisis 11, +GARD:0018081,Orphanet+OMIM,OMIM:616217,Subtype of disorder,Disease subtype,Nephronophthisis 19, +GARD:0018082,Orphanet+OMIM,OMIM:601068,Subtype of disorder,Disease subtype,"Epilepsy, familial adult myoclonic, 1","Benign adult familial myoclonic epilepsy 1|cortical myoclonic tremor with epilepsy, familial, 1" +GARD:0018083,Orphanet+OMIM,OMIM:607876,Subtype of disorder,Disease subtype,"Epilepsy, familial adult myoclonic, 2","cortical myoclonus and epilepsy, autosomal dominant|Benign adult familial myoclonic epilepsy 2|cortical myoclonic tremor with epilepsy, familial, 2" +GARD:0018084,Orphanet+OMIM,OMIM:613608,Subtype of disorder,Disease subtype,"Epilepsy, familial adult myoclonic, 3","Cortical myoclonic tremor with epilepsy, familial, 3" +GARD:0018085,Orphanet+OMIM,OMIM:615127,Subtype of disorder,Disease subtype,"Epilepsy, familial adult myoclonic, 4","Cortical myoclonic tremor with epilepsy, familial, 4" +GARD:0018086,Orphanet+OMIM,OMIM:615400,Subtype of disorder,Disease subtype,"Epilepsy, familial adult myoclonic, 5","Cortical myoclonic tremor with epilepsy, familial, 5" +GARD:0018087,Orphanet+OMIM,OMIM:607694,Subtype of disorder,Clinical subtype,"Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism","Leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|ataxia, delayed dentition, and hypomyelination|4h leukodystrophy 1|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|4h syndrome" +GARD:0018088,Orphanet+OMIM,OMIM:616494,Subtype of disorder,Clinical subtype,"Leukodystrophy, hypomyelinating, 11",4h leukodystrophy 3 +GARD:0018089,Orphanet+OMIM,OMIM:618660,Subtype of disorder,Disease subtype,Hemolytic anemia due to glutathione reductase deficiency, +GARD:0018090,Orphanet+OMIM,OMIM:618667,Subtype of disorder,Disease subtype,"Hydrocephalus, congenital communicating, 1", +GARD:0018091,Orphanet+OMIM,OMIM:601152,Subtype of disorder,Disease subtype,"Neuropathy, hereditary motor and sensory, type via, with optic atrophy","neuropathy, hereditary motor and sensory, type vi|charcot-marie-tooth disease, type 6a|charcot-marie-tooth disease, type 6|Hmsn via|peripheral neuropathy and optic atrophy" +GARD:0018092,Orphanet+OMIM,OMIM:616505,Subtype of disorder,Disease subtype,"Neuropathy, hereditary motor and sensory, type vib, with optic atrophy","charcot-marie-tooth disease, type 6b|Hmsn vib" +GARD:0018093,Orphanet+OMIM,OMIM:146520,Subtype of disorder,Disease subtype,Hypotrichosis 2,"hypotrichosis, spanish type|Hypotrichosis simplex of the scalp 1|htss" +GARD:0018094,Orphanet+OMIM,OMIM:613981,Subtype of disorder,Disease subtype,Hypotrichosis 3,Hypotrichosis simplex of the scalp 2 +GARD:0018095,Orphanet+OMIM,OMIM:300030,Subtype of disorder,Etiological subtype,"Deafness, x-linked 3", +GARD:0018096,Orphanet+OMIM,OMIM:300066,Subtype of disorder,Etiological subtype,"Deafness, x-linked 4","Deafness, x-linked 6, progressive|deafness, nonsyndromic sensorineural progressive 6" +GARD:0018097,Orphanet+OMIM,OMIM:300914,Subtype of disorder,Etiological subtype,"Deafness, x-linked 6", +GARD:0018098,Orphanet+OMIM,OMIM:304500,Subtype of disorder,Etiological subtype,"Deafness, x-linked 1","Deafness, x-linked 2, sensorineural congenital" +GARD:0018099,Orphanet+OMIM,OMIM:600101,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 2a", +GARD:0018100,Orphanet+OMIM,OMIM:600652,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 4a","Deafness, autosomal dominant 4" +GARD:0018101,Orphanet+OMIM,OMIM:600965,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 6","Deafness, autosomal dominant 14|deafness, autosomal dominant 38" +GARD:0018102,Orphanet+OMIM,OMIM:600994,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 5", +GARD:0018103,Orphanet+OMIM,OMIM:601316,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 10", +GARD:0018104,Orphanet+OMIM,OMIM:601317,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 11", +GARD:0018105,Orphanet+OMIM,OMIM:601369,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 9", +GARD:0018106,Orphanet+OMIM,OMIM:601412,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 7", +GARD:0018107,Orphanet+OMIM,OMIM:601543,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 12","Deafness, autosomal dominant 8" +GARD:0018108,Orphanet+OMIM,OMIM:601868,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 13", +GARD:0018109,Orphanet+OMIM,OMIM:602459,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 15", +GARD:0018110,Orphanet+OMIM,OMIM:603964,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 16", +GARD:0018111,Orphanet+OMIM,OMIM:604717,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 20",Dfna26 +GARD:0018112,Orphanet+OMIM,OMIM:605583,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 25", +GARD:0018113,Orphanet+OMIM,OMIM:606012,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 18", +GARD:0018114,Orphanet+OMIM,OMIM:606451,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 30", +GARD:0018115,Orphanet+OMIM,OMIM:606705,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 36", +GARD:0018116,Orphanet+OMIM,OMIM:607017,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 21", +GARD:0018117,Orphanet+OMIM,OMIM:607197,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive", +GARD:0018118,Orphanet+OMIM,OMIM:607453,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 44", +GARD:0018119,Orphanet+OMIM,OMIM:607683,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 52", +GARD:0018120,Orphanet+OMIM,OMIM:607841,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 48", +GARD:0018121,Orphanet+OMIM,OMIM:608224,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 41", +GARD:0018122,Orphanet+OMIM,OMIM:608372,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 49", +GARD:0018123,Orphanet+OMIM,OMIM:608394,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 43", +GARD:0018124,Orphanet+OMIM,OMIM:608641,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 28", +GARD:0018125,Orphanet+OMIM,OMIM:608645,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 31", +GARD:0018126,Orphanet+OMIM,OMIM:608652,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 47", +GARD:0018127,Orphanet+OMIM,OMIM:609129,Subtype of disorder,Etiological subtype,"Auditory neuropathy, autosomal dominant 1","Auditory neuropathy, nonsyndromic dominant" +GARD:0018128,Orphanet+OMIM,OMIM:612431,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 27", +GARD:0018129,Orphanet+OMIM,OMIM:612642,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 59", +GARD:0018130,Orphanet+OMIM,OMIM:612643,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 3b", +GARD:0018131,Orphanet+OMIM,OMIM:612644,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 2b", +GARD:0018132,Orphanet+OMIM,OMIM:613074,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 50", +GARD:0018133,Orphanet+OMIM,OMIM:613558,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 51", +GARD:0018134,Orphanet+OMIM,OMIM:614152,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 64", +GARD:0018135,Orphanet+OMIM,OMIM:614211,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 33", +GARD:0018136,Orphanet+OMIM,OMIM:614614,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 4b", +GARD:0018137,Orphanet+OMIM,OMIM:615629,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 56", +GARD:0018138,Orphanet+OMIM,OMIM:615649,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 54", +GARD:0018139,Orphanet+OMIM,OMIM:615654,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 58", +GARD:0018140,Orphanet+OMIM,OMIM:616044,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 65", +GARD:0018141,Orphanet+OMIM,OMIM:616340,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 67", +GARD:0018142,Orphanet+OMIM,OMIM:616357,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 40", +GARD:0018143,Orphanet+OMIM,OMIM:616697,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 69","Deafness, congenital, unilateral or asymmetric" +GARD:0018144,Orphanet+OMIM,OMIM:616707,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 68", +GARD:0018145,Orphanet+OMIM,OMIM:616968,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 70", +GARD:0018146,Orphanet+OMIM,OMIM:616969,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 66", +GARD:0018147,Orphanet+OMIM,OMIM:617605,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 71", +GARD:0018148,Orphanet+OMIM,OMIM:617606,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 72", +GARD:0018149,Orphanet+OMIM,OMIM:617663,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 73", +GARD:0018150,Orphanet+OMIM,OMIM:618094,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 110", +GARD:0018151,Orphanet+OMIM,OMIM:618140,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 74", +GARD:0018152,Orphanet+OMIM,OMIM:618410,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 113", +GARD:0018153,Orphanet+OMIM,OMIM:618778,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 75", +GARD:0018154,Orphanet+OMIM,OMIM:618787,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 76", +GARD:0018155,Orphanet+OMIM,OMIM:618915,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 77", +GARD:0018156,Orphanet+OMIM,OMIM:619081,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 78", +GARD:0018157,Orphanet+OMIM,OMIM:619086,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 79", +GARD:0018158,Orphanet+OMIM,OMIM:619274,Subtype of disorder,Etiological subtype,"Deafness, autosomal dominant 80", +GARD:0018159,Orphanet+OMIM,OMIM:221745,Subtype of disorder,Etiological subtype,"Deafness, sensorineural, autosomal-mitochondrial type", +GARD:0018160,Orphanet+OMIM,OMIM:500008,Subtype of disorder,Etiological subtype,"Deafness, nonsyndromic sensorineural, mitochondrial", +GARD:0018161,Orphanet+OMIM,OMIM:580000,Subtype of disorder,Etiological subtype,"Deafness, aminoglycoside-induced","streptomycin ototoxicity|Deafness, streptomycin-induced" +GARD:0018162,Orphanet+OMIM,OMIM:178300,Subtype of disorder,Disease subtype,"Ptosis, hereditary congenital 1", +GARD:0018163,Orphanet+OMIM,OMIM:300245,Subtype of disorder,Disease subtype,"Ptosis, hereditary congenital 2", +GARD:0018164,Orphanet+OMIM,OMIM:616219,Subtype of disorder,Disease subtype,"Fibrosis of extraocular muscles, congenital, 5", +GARD:0018165,Orphanet+OMIM,OMIM:103420,Subtype of disorder,Disease subtype,"Alacrima, congenital, autosomal dominant","Alacrimia congenita, autosomal dominant" +GARD:0018166,Orphanet+OMIM,OMIM:601549,Subtype of disorder,Disease subtype,"Alacrima, congenital, autosomal recessive", +GARD:0018167,Orphanet+OMIM,OMIM:221900,Subtype of disorder,Disease subtype,"Persistent hyperplastic primary vitreous, autosomal recessive","Retinal nonattachment, nonsyndromic congenital|retinal nonattachment and falciform detachment|persistent fetal vasculature" +GARD:0018168,Orphanet+OMIM,OMIM:611308,Subtype of disorder,Disease subtype,"Persistent hyperplastic primary vitreous, autosomal dominant", +GARD:0018169,Orphanet+OMIM,OMIM:277440,Subtype of disorder,Disease subtype,"Vitamin d-dependent rickets, type 2a","Vitamin d-dependent rickets, type 2a, with or without alopecia|rickets-alopecia syndrome|pddr iia|generalized resistance to 1,25-dihydroxyvitamin d|pseudovitamin d-deficiency, type iia|hypocalcemic vitamin d-resistant rickets|vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|rickets, hereditary vitamin d-resistant" +GARD:0018170,Orphanet+OMIM,OMIM:600785,Subtype of disorder,Disease subtype,"Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor", +GARD:0018171,Orphanet+OMIM,OMIM:619073,Subtype of disorder,Disease subtype,"Vitamin d-dependent rickets, type 3", +GARD:0018172,Orphanet+OMIM,OMIM:263450,Subtype of disorder,Morphological anomaly subtype,"Polydactyly, postaxial, type a5", +GARD:0018173,Orphanet+OMIM,OMIM:602085,Subtype of disorder,Morphological anomaly subtype,"Polydactyly, postaxial, type a2", +GARD:0018174,Orphanet+OMIM,OMIM:607324,Subtype of disorder,Morphological anomaly subtype,"Polydactyly, postaxial, type a3", +GARD:0018175,Orphanet+OMIM,OMIM:608562,Subtype of disorder,Morphological anomaly subtype,"Polydactyly, postaxial, type a4", +GARD:0018176,Orphanet+OMIM,OMIM:615226,Subtype of disorder,Morphological anomaly subtype,"Polydactyly, postaxial, type a6", +GARD:0018177,Orphanet+OMIM,OMIM:618219,Subtype of disorder,Morphological anomaly subtype,"Polydactyly, postaxial, type a9", +GARD:0018178,Orphanet+OMIM,OMIM:618498,Subtype of disorder,Morphological anomaly subtype,"Polydactyly, postaxial, type a10", +GARD:0018179,Orphanet+OMIM,OMIM:604387,Subtype of disorder,Clinical subtype,Nephronophthisis 3,Nph3 +GARD:0018180,Orphanet+OMIM,OMIM:613159,Subtype of disorder,Clinical subtype,Nephronophthisis-like nephropathy 1, +GARD:0018181,Orphanet+OMIM,OMIM:617271,Subtype of disorder,Clinical subtype,Nephronophthisis 20, +GARD:0018182,Orphanet+OMIM,OMIM:602088,Subtype of disorder,Clinical subtype,Nephronophthisis 2,Nph2 +GARD:0018183,Orphanet+OMIM,OMIM:615382,Subtype of disorder,Clinical subtype,Nephronophthisis 16, +GARD:0018184,Orphanet+OMIM,OMIM:146450,Subtype of disorder,Morphological anomaly subtype,"Hypospadias 3, autosomal", +GARD:0018185,Orphanet+OMIM,OMIM:300633,Subtype of disorder,Morphological anomaly subtype,"Hypospadias 1, x-linked", +GARD:0018186,Orphanet+OMIM,OMIM:300758,Subtype of disorder,Morphological anomaly subtype,"Hypospadias 2, x-linked", +GARD:0018187,Orphanet+OMIM,OMIM:300856,Subtype of disorder,Morphological anomaly subtype,"Hypospadias 4, x-linked, susceptibility to", +GARD:0018188,Orphanet+OMIM,OMIM:274400,Subtype of disorder,Disease subtype,Thyroid dyshormonogenesis 1,"hypothyroidism, congenital, due to dyshormonogenesis, 1|iodine accumulation, transport, or trapping defect|Thyroid hormonogenesis, genetic defect in, 1" +GARD:0018189,Orphanet+OMIM,OMIM:274500,Subtype of disorder,Disease subtype,Thyroid dyshormonogenesis 2a,"Thyroid hormonogenesis, genetic defect in, 2a|hypothyroidism, congenital, due to dyshormonogenesis, 2a|iodide peroxidase deficiency|thyroid peroxidase deficiency" +GARD:0018190,Orphanet+OMIM,OMIM:274700,Subtype of disorder,Disease subtype,Thyroid dyshormonogenesis 3,"hypothyroidism, congenital, due to dyshormonogenesis, 3|Thyroid hormonogenesis, genetic defect in, 3" +GARD:0018191,Orphanet+OMIM,OMIM:274800,Subtype of disorder,Disease subtype,Thyroid dyshormonogenesis 4,"iodotyrosine dehalogenase deficiency|deiodinase deficiency|Thyroid hormonogenesis, genetic defect in, 4|hypothyroidism, congenital, due to dyshormonogenesis, 4" +GARD:0018192,Orphanet+OMIM,OMIM:274900,Subtype of disorder,Disease subtype,Thyroid dyshormonogenesis 5,"Thyroid hormonogenesis, genetic defect in, 5|hypothyroidism, congenital, due to dyshormonogenesis, 5" +GARD:0018193,Orphanet+OMIM,OMIM:607200,Subtype of disorder,Disease subtype,Thyroid dyshormonogenesis 6,"Thyroid hormonogenesis, genetic defect in, 6|hypothyroidism, congenital, due to dyshormonogenesis, 6" +GARD:0018194,Orphanet+OMIM,OMIM:619126,Disorder,Disease,Immunodeficiency 75, +GARD:0018195,Orphanet+OMIM,OMIM:277450,Subtype of disorder,Disease subtype,"Vitamin k-dependent clotting factors, combined deficiency of, 1","multiple coagulation factor deficiency iii|fmfd iii|factors ii, vii, ix, and x, combined deficiency of|familial multiple coagulation factor deficiency iii|glutamic acid, deficient gamma-carboxylation of|Vkcfd|vitamin k-dependent coagulation defect" +GARD:0018196,Orphanet+OMIM,OMIM:607473,Subtype of disorder,Disease subtype,"Vitamin k-dependent clotting factors, combined deficiency of, 2", +GARD:0018197,Orphanet+OMIM,OMIM:614292,Subtype of disorder,Disease subtype,"Myopia, high, with cataract and vitreoretinal degeneration", +GARD:0018198,Orphanet+OMIM,OMIM:615431,Subtype of disorder,Disease subtype,"Myopia 23, autosomal recessive", +GARD:0018199,Orphanet+OMIM,OMIM:616289,Subtype of disorder,Disease subtype,Optic atrophy 9, +GARD:0018200,Orphanet+OMIM,OMIM:616732,Subtype of disorder,Disease subtype,"Optic atrophy 10 with or without ataxia, mental retardation, and seizures", +GARD:0018201,Orphanet+OMIM,OMIM:617302,Subtype of disorder,Disease subtype,Optic atrophy 11, +GARD:0018202,Orphanet+OMIM,OMIM:604364,Subtype of disorder,Disease subtype,"Epilepsy, familial focal, with variable foci 1","Epilepsy, familial focal, with variable foci|epilepsy, partial, with variable foci" +GARD:0018203,Orphanet+OMIM,OMIM:617116,Subtype of disorder,Disease subtype,"Epilepsy, familial focal, with variable foci 2", +GARD:0018204,Orphanet+OMIM,OMIM:617118,Subtype of disorder,Disease subtype,"Epilepsy, familial focal, with variable foci 3", +GARD:0018205,Orphanet+OMIM,OMIM:263000,Subtype of disorder,Disease subtype,"Interstitial pneumonitis, desquamative, familial","Pneumonitis, desquamative interstitial, familial|interstitial lung disease, desquamative|ild, desquamative|pneumonia, desquamative interstitial, familial" +GARD:0018206,Orphanet+OMIM,OMIM:612998,Subtype of disorder,Etiological subtype,"Emery-dreifuss muscular dystrophy 4, autosomal dominant",Emery-dreifuss muscular dystrophy 4 with variable features +GARD:0018207,Orphanet+OMIM,OMIM:612999,Subtype of disorder,Etiological subtype,"Emery-dreifuss muscular dystrophy 5, autosomal dominant", +GARD:0018208,Orphanet+OMIM,OMIM:614302,Subtype of disorder,Etiological subtype,"Emery-dreifuss muscular dystrophy 7, autosomal dominant", +GARD:0018209,Orphanet+OMIM,OMIM:616516,Subtype of disorder,Etiological subtype,"Emery-dreifuss muscular dystrophy 3, autosomal recessive", +GARD:0018210,Orphanet+OMIM,OMIM:603034,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 5","engel congenital myasthenic syndrome|cms ic, formerly|Endplate acetylcholinesterase deficiency|myasthenic syndrome, congenital, engel type|congenital myasthenic syndrome type ic, formerly" +GARD:0018211,Orphanet+OMIM,OMIM:139393,Subtype of disorder,Disease subtype,"Guillain-barre syndrome, familial","Polyneuropathy, inflammatory demyelinating, acute" +GARD:0018212,Orphanet+OMIM,OMIM:122000,Subtype of disorder,Disease subtype,"Corneal dystrophy, posterior polymorphous, 1","maumenee corneal dystrophy|corneal dystrophy, hereditary polymorphous posterior|Posterior polymorphous corneal dystrophy|corneal endothelial dystrophy 1, autosomal dominant, formerly" +GARD:0018213,Orphanet+OMIM,OMIM:609140,Subtype of disorder,Disease subtype,"Corneal dystrophy, posterior polymorphous, 2", +GARD:0018214,Orphanet+OMIM,OMIM:609141,Subtype of disorder,Disease subtype,"Corneal dystrophy, posterior polymorphous, 3", +GARD:0018215,Orphanet+OMIM,OMIM:618031,Subtype of disorder,Disease subtype,"Corneal dystrophy, posterior polymorphous, 4", +GARD:0018216,Orphanet+OMIM,OMIM:136800,Subtype of disorder,Disease subtype,"Corneal dystrophy, fuchs endothelial, 1","Corneal dystrophy, fuchs endothelial, early-onset" +GARD:0018217,Orphanet+OMIM,OMIM:610158,Subtype of disorder,Disease subtype,"Corneal dystrophy, fuchs endothelial, 2", +GARD:0018218,Orphanet+OMIM,OMIM:613267,Subtype of disorder,Disease subtype,"Corneal dystrophy, fuchs endothelial, 3","corneal dystrophy, fuchs endothelial, late-onset|Fcd2 locus" +GARD:0018219,Orphanet+OMIM,OMIM:613268,Subtype of disorder,Disease subtype,"Corneal dystrophy, fuchs endothelial, 4","Corneal dystrophy, fuchs endothelial, late-onset" +GARD:0018220,Orphanet+OMIM,OMIM:613269,Subtype of disorder,Disease subtype,"Corneal dystrophy, fuchs endothelial, 5", +GARD:0018221,Orphanet+OMIM,OMIM:613270,Subtype of disorder,Disease subtype,"Corneal dystrophy, fuchs endothelial, 6","Corneal dystrophy, fuchs endothelial, late-onset" +GARD:0018222,Orphanet+OMIM,OMIM:613271,Subtype of disorder,Disease subtype,"Corneal dystrophy, fuchs endothelial, 7", +GARD:0018223,Orphanet+OMIM,OMIM:615523,Subtype of disorder,Disease subtype,"Corneal dystrophy, fuchs endothelial, 8", +GARD:0018224,Orphanet+OMIM,OMIM:231300,Subtype of disorder,Disease subtype,"Glaucoma 3, primary congenital, a","buphthalmos|Glaucoma, congenital" +GARD:0018225,Orphanet+OMIM,OMIM:613085,Subtype of disorder,Disease subtype,"Glaucoma 3, primary congenital, c", +GARD:0018226,Orphanet+OMIM,OMIM:613086,Subtype of disorder,Disease subtype,"Glaucoma 3, primary congenital, d", +GARD:0018227,Orphanet+OMIM,OMIM:617272,Subtype of disorder,Disease subtype,"Glaucoma 3, primary congenital, e", +GARD:0018228,Orphanet+OMIM,OMIM:608695,Subtype of disorder,Disease subtype,"Glaucoma 1, open angle, j", +GARD:0018229,Orphanet+OMIM,OMIM:608696,Subtype of disorder,Disease subtype,"Glaucoma 1, open angle, k", +GARD:0018230,Orphanet+OMIM,OMIM:610535,Subtype of disorder,Disease subtype,"Glaucoma 1, open angle, m", +GARD:0018231,Orphanet+OMIM,OMIM:611274,Subtype of disorder,Disease subtype,"Glaucoma 1, open angle, n", +GARD:0018232,Orphanet+OMIM,OMIM:605728,Subtype of disorder,Clinical subtype,Cataract 25, +GARD:0018233,Orphanet+OMIM,OMIM:115800,Subtype of disorder,Clinical subtype,Cataract 29, +GARD:0018234,Orphanet+OMIM,OMIM:116400,Subtype of disorder,Clinical subtype,Cataract 41,"Cataract 41, congenital nuclear type" +GARD:0018235,Orphanet+OMIM,OMIM:607304,Subtype of disorder,Clinical subtype,Cataract 27, +GARD:0018236,Orphanet+OMIM,OMIM:611391,Subtype of disorder,Clinical subtype,"Cataract 33, multiple types", +GARD:0018237,Orphanet+OMIM,OMIM:169150,Subtype of disorder,Disease subtype,"Macular dystrophy, patterned, 1","butterfly dystrophy of retinal pigment epithelium|Patterned dystrophy of retinal pigment epithelium|macular dystrophy, butterfly-shaped pigmentary" +GARD:0018238,Orphanet+OMIM,OMIM:608970,Subtype of disorder,Disease subtype,"Macular dystrophy, patterned, 2","Macular dystrophy, butterfly-shaped pigmentary, 2" +GARD:0018239,Orphanet+OMIM,OMIM:179840,Subtype of disorder,Disease subtype,Reticular dystrophy of retinal pigment epithelium, +GARD:0018240,Orphanet+OMIM,OMIM:267800,Subtype of disorder,Disease subtype,"Retinal dystrophy, reticular pigmentary, of posterior pole", +GARD:0018241,Orphanet+OMIM,OMIM:617175,Subtype of disorder,Disease subtype,Retinal dystrophy with or without extraocular anomalies, +GARD:0018242,Orphanet+OMIM,OMIM:271950,Subtype of disorder,Clinical subtype,"Subaortic stenosis, membranous", +GARD:0018243,Orphanet+OMIM,OMIM:119570,Subtype of disorder,Morphological anomaly subtype,Cleft soft palate, +GARD:0018244,Orphanet+OMIM,OMIM:106600,Subtype of disorder,Morphological anomaly subtype,"Tooth agenesis, selective, 1","Hypodontia/oligodontia 1|tooth agenesis, familial|second premolars and third molars, absence of" +GARD:0018245,Orphanet+OMIM,OMIM:150400,Subtype of disorder,Morphological anomaly subtype,"Tooth agenesis, selective, 4","lateral incisors, absence of|Tooth agenesis, selective, 4, with or without ectodermal dysplasia|lateral incisors, pegged or missing|succedaneous teeth, agenesis of" +GARD:0018246,Orphanet+OMIM,OMIM:313500,Subtype of disorder,Morphological anomaly subtype,"Tooth agenesis, selective, x-linked, 1","Hypodontia/oligodontia, x-linked, 1" +GARD:0018247,Orphanet+OMIM,OMIM:604625,Subtype of disorder,Morphological anomaly subtype,"Tooth agenesis, selective, 3",Hypodontia/oligodontia 3 +GARD:0018248,Orphanet+OMIM,OMIM:610926,Subtype of disorder,Morphological anomaly subtype,"Tooth agenesis, selective, 5", +GARD:0018249,Orphanet+OMIM,OMIM:616724,Subtype of disorder,Morphological anomaly subtype,"Tooth agenesis, selective, 7", +GARD:0018250,Orphanet+OMIM,OMIM:617073,Subtype of disorder,Morphological anomaly subtype,"Tooth agenesis, selective, 8", +GARD:0018251,Orphanet+OMIM,OMIM:268200,Subtype of disorder,Disease subtype,"Myoglobinuria, acute recurrent, autosomal recessive","rhabdomyolysis, acute recurrent|Myoglobinuria, familial paroxysmal paralytic" +GARD:0018252,Orphanet+OMIM,OMIM:615889,Subtype of disorder,Clinical subtype,"Leukoencephalopathy, progressive, with ovarian failure", +GARD:0018253,Orphanet+OMIM,OMIM:145000,Subtype of disorder,Disease subtype,Hyperparathyroidism 1,"Hyperparathyroidism, familial isolated primary" +GARD:0018254,Orphanet+OMIM,OMIM:600166,Subtype of disorder,Disease subtype,"Hyperparathyroidism, primary, caused by water clear cell hyperplasia", +GARD:0018255,Orphanet+OMIM,OMIM:610071,Subtype of disorder,Disease subtype,Hyperparathyroidism 3, +GARD:0018256,Orphanet+OMIM,OMIM:617343,Subtype of disorder,Disease subtype,Hyperparathyroidism 4, +GARD:0018257,Orphanet+OMIM,OMIM:618883,Subtype of disorder,Disease subtype,"Hypoparathyroidism, familial isolated, 2", +GARD:0018258,Orphanet+OMIM,OMIM:617607,Subtype of disorder,Clinical subtype,"Amelogenesis imperfecta, type iiib", +GARD:0018259,Orphanet+OMIM,OMIM:300909,Subtype of disorder,Disease subtype,"Angioedema induced by ace inhibitors, susceptibility to", +GARD:0018260,Orphanet+OMIM,OMIM:270420,Subtype of disorder,Disease subtype,"Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies","Sodium diarrhea, congenital|diarrhea 3, secretory sodium, congenital, syndromic" +GARD:0018261,Orphanet+OMIM,OMIM:616868,Subtype of disorder,Disease subtype,"Diarrhea 8, secretory sodium, congenital","Diarrhea, congenital sodium" +GARD:0018262,Orphanet+OMIM,OMIM:158590,Subtype of disorder,Disease subtype,"Neuronopathy, distal hereditary motor, type iia","charcot-marie-tooth disease, spinal, iia|neuropathy, distal hereditary motor, type iia|spinal muscular atrophy, distal, adult, autosomal dominant, iia|Hmn iia" +GARD:0018263,Orphanet+OMIM,OMIM:608634,Subtype of disorder,Disease subtype,"Neuronopathy, distal hereditary motor, type iib","neuropathy, distal hereditary motor, type iib|Hmn iib" +GARD:0018264,Orphanet+OMIM,OMIM:613376,Subtype of disorder,Disease subtype,"Neuronopathy, distal hereditary motor, type iic","neuropathy, distal hereditary motor, type iic|Hmn iic" +GARD:0018265,Orphanet+OMIM,OMIM:615575,Subtype of disorder,Disease subtype,"Neuronopathy, distal hereditary motor, type iid","neuropathy, distal hereditary motor, type iid|spinal muscular atrophy, distal, autosomal dominant, calf-predominant|Hmn iid" +GARD:0018266,Orphanet+OMIM,OMIM:600794,Subtype of disorder,Disease subtype,"Neuronopathy, distal hereditary motor, type va","Hmn 5a|neuronopathy, distal hereditary motor, type v|neuropathy, distal hereditary motor, type va|spinal muscular atrophy, distal, with upper limb predominance|dhmn va|spinal muscular atrophy, distal, type va|spinal muscular atrophy, distal, type v" +GARD:0018267,Orphanet+OMIM,OMIM:614751,Subtype of disorder,Disease subtype,"Neuronopathy, distal hereditary motor, type vb","neuropathy, distal hereditary motor, type vb|spinal muscular atrophy, distal, type vb|Hmn vb|dhmn vb" +GARD:0018268,Orphanet+OMIM,OMIM:619112,Subtype of disorder,Disease subtype,"Neuronopathy, distal hereditary motor, type vc","spinal muscular atrophy, distal, type 5c|Dhmn5c" +GARD:0018269,Orphanet+OMIM,OMIM:158580,Subtype of disorder,Disease subtype,"Neuronopathy, distal hereditary motor, type viia","spinal muscular atrophy, distal, with vocal cord paralysis|Hmn viia|neuropathy, distal hereditary motor, type viia|dhmnvp|harper-young myopathy|dhmn7a" +GARD:0018270,Orphanet+OMIM,OMIM:607641,Subtype of disorder,Disease subtype,"Neuronopathy, distal hereditary motor, type viib","neuropathy, distal hereditary motor, with vocal cord paralysis, type viib|lower motor neuron disease, dynactin type|dhmn7b|Hmn viib|neuropathy, distal hereditary motor, type viib" +GARD:0018271,Orphanet+OMIM,OMIM:613112,Subtype of disorder,Disease subtype,"Macrothrombocytopenia, isolated, 1, autosomal dominant", +GARD:0018272,Orphanet+OMIM,OMIM:615193,Subtype of disorder,Disease subtype,"Bleeding disorder, platelet-type, 15","Macrothrombocytopenia, autosomal dominant, actn1-related" +GARD:0018273,Orphanet+OMIM,OMIM:619271,Subtype of disorder,Disease subtype,"Bleeding disorder, platelet-type, 24",Glanzmann thrombasthenia-like with macrothrombocytopenia 2 +GARD:0018274,Orphanet+OMIM,OMIM:108760,Subtype of disorder,Morphological anomaly subtype,Atresia of external auditory canal and conductive deafness, +GARD:0018275,Orphanet+OMIM,OMIM:607842,Subtype of disorder,Morphological anomaly subtype,"Aural atresia, congenital","Aural atresia, congenital, with hyposmia" +GARD:0018276,Orphanet+OMIM,OMIM:610069,Subtype of disorder,Disease subtype,"Polyposis syndrome, hereditary mixed, 2", +GARD:0018277,Orphanet+OMIM,OMIM:610313,Subtype of disorder,Disease subtype,Crisponi/cold-induced sweating syndrome 2, +GARD:0018278,Orphanet+OMIM,OMIM:617055,Subtype of disorder,Disease subtype,Perching syndrome,"Crisponi/cold-induced sweating syndrome 3, formerly" +GARD:0018279,Orphanet+OMIM,OMIM:611630,Subtype of disorder,Disease subtype,"Epilepsy, familial temporal lobe, 3", +GARD:0018280,Orphanet+OMIM,OMIM:614417,Subtype of disorder,Disease subtype,"Epilepsy, familial temporal lobe, 5", +GARD:0018281,Orphanet+OMIM,OMIM:615697,Subtype of disorder,Disease subtype,"Epilepsy, familial temporal lobe, 6", +GARD:0018282,Orphanet+OMIM,OMIM:300643,Subtype of disorder,Disease subtype,"Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked","Rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked" +GARD:0018283,Orphanet+OMIM,OMIM:614418,Subtype of disorder,Disease subtype,"Febrile seizures, familial, 11","Convulsions, familial febrile, 11" +GARD:0018284,Orphanet+OMIM,OMIM:163800,Subtype of disorder,Disease subtype,Sick sinus syndrome 2,"Sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation|sinus node disease, familial, autosomal dominant|atrial fibrillation with bradyarrhythmia|sinus bradycardia syndrome, familial, autosomal dominant" +GARD:0018285,Orphanet+OMIM,OMIM:614090,Subtype of disorder,Disease subtype,"Sick sinus syndrome 3, susceptibility to", +GARD:0018286,Orphanet+OMIM,OMIM:613339,Subtype of disorder,Disease subtype,"Epilepsy, hot water, 1", +GARD:0018287,Orphanet+OMIM,OMIM:613340,Subtype of disorder,Disease subtype,"Epilepsy, hot water, 2", +GARD:0018288,Orphanet+OMIM,OMIM:273900,Subtype of disorder,Etiological subtype,Thrombocytopenia 3,"Thrombocytopenia, autosomal recessive, 3" +GARD:0018289,Orphanet+OMIM,OMIM:612004,Subtype of disorder,Etiological subtype,Thrombocytopenia 4,"Thrombocytopenia, autosomal dominant, 4" +GARD:0018290,Orphanet+OMIM,OMIM:610102,Subtype of disorder,Disease subtype,Complement component 7 deficiency,C7 deficiency +GARD:0018291,Orphanet+OMIM,OMIM:612446,Subtype of disorder,Disease subtype,Complement component 6 deficiency,C6 deficiency +GARD:0018292,Orphanet+OMIM,OMIM:613825,Subtype of disorder,Disease subtype,Complement component 9 deficiency,C9 deficiency +GARD:0018293,Orphanet+OMIM,OMIM:608971,Subtype of disorder,Disease subtype,Immunodeficiency 104,"scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive" +GARD:0018294,Orphanet+OMIM,OMIM:610163,Subtype of disorder,Disease subtype,Immunodeficiency 25,Immunodeficiency due to defect in cd3-zeta +GARD:0018295,Orphanet+OMIM,OMIM:615615,Subtype of disorder,Disease subtype,Immunodeficiency 18,Cd3-epsilon deficiency +GARD:0018296,Orphanet+OMIM,OMIM:615617,Subtype of disorder,Disease subtype,Immunodeficiency 19,"scid, t cell-negative, b cell-positive, nk cell-positive|severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive|Cd3-delta deficiency" +GARD:0018297,Orphanet+OMIM,OMIM:613658,Subtype of disorder,Disease subtype,Rajab interstitial lung disease with brain calcifications 1,"neurodevelopmental disorder with brain, liver, and lung abnormalities, formerly|developmental delay, small stature, microcephaly, and brain calcifications, formerly|Rajab interstitial lung disease with brain calcifications|rajab syndrome" +GARD:0018298,Orphanet+OMIM,OMIM:619013,Subtype of disorder,Disease subtype,Rajab interstitial lung disease with brain calcifications 2, +GARD:0018299,Orphanet+OMIM,OMIM:608203,Subtype of disorder,Disease subtype,Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis,Neutrophil immunodeficiency syndrome +GARD:0018300,Orphanet+OMIM,OMIM:618987,Subtype of disorder,Disease subtype,Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia, +GARD:0018301,Orphanet+OMIM,OMIM:115300,Subtype of disorder,Disease subtype,"Hypercarotenemia and vitamin a deficiency, autosomal dominant", +GARD:0018302,Orphanet+OMIM,OMIM:277350,Subtype of disorder,Disease subtype,"Hypercarotenemia and vitamin a deficiency, autosomal recessive", +GARD:0018303,Orphanet+OMIM,OMIM:600625,Subtype of disorder,Morphological anomaly subtype,Orofacial cleft 11,"Cleft lip with or without cleft palate, nonsyndromic, 11" +GARD:0018304,Orphanet+OMIM,OMIM:608864,Subtype of disorder,Morphological anomaly subtype,"Orofacial cleft 6, susceptibility to","Cleft lip with or without cleft palate, nonsyndromic, 6" +GARD:0018305,Orphanet+OMIM,OMIM:608874,Subtype of disorder,Morphological anomaly subtype,Orofacial cleft 5,"Cleft lip with or without cleft palate, nonsyndromic, 5" +GARD:0018306,Orphanet+OMIM,OMIM:613705,Subtype of disorder,Morphological anomaly subtype,Orofacial cleft 10,"Cleft lip with or without cleft palate, nonsyndromic, 10" +GARD:0018307,Orphanet+OMIM,OMIM:616788,Subtype of disorder,Morphological anomaly subtype,Orofacial cleft 15, +GARD:0018308,Orphanet+OMIM,OMIM:618149,Subtype of disorder,Morphological anomaly subtype,Orofacial cleft 8,"Cleft lip with or without cleft palate, nonsyndromic, 8" +GARD:0018309,Orphanet+OMIM,OMIM:612900,Subtype of disorder,Disease subtype,"Cerebral palsy, spastic quadriplegic, 2", +GARD:0018310,Orphanet+OMIM,OMIM:617008,Subtype of disorder,Disease subtype,"Cerebral palsy, spastic quadriplegic, 3", +GARD:0018311,Orphanet+OMIM,OMIM:245590,Subtype of disorder,Disease subtype,"Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive",Laron syndrome due to postreceptor defect|growth hormone insensitivity due to postreceptor defect +GARD:0018312,Orphanet+OMIM,OMIM:618985,Subtype of disorder,Disease subtype,"Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant", +GARD:0018313,Orphanet+OMIM,OMIM:603284,Subtype of disorder,Malformation syndrome subtype,Cerebral cavernous malformations 2, +GARD:0018314,Orphanet+OMIM,OMIM:603285,Subtype of disorder,Malformation syndrome subtype,Cerebral cavernous malformations 3, +GARD:0018315,Orphanet+OMIM,OMIM:500003,Subtype of disorder,Disease subtype,"Striatonigral degeneration, infantile, mitochondrial","Bilateral striatal necrosis, infantile, mitochondrial|infantile bilateral striatal necrosis, mitochondrial" +GARD:0018316,Orphanet+OMIM,OMIM:619115,Subtype of disorder,Disease subtype,Combined osteogenesis imperfecta and ehlers-danlos syndrome 1,Oieds syndrome 1 +GARD:0018317,Orphanet+OMIM,OMIM:619120,Subtype of disorder,Disease subtype,Combined osteogenesis imperfecta and ehlers-danlos syndrome 2,Oieds syndrome 2 +GARD:0018318,Orphanet+OMIM,OMIM:609322,Subtype of disorder,Clinical subtype,Rhabdoid tumor predisposition syndrome 1,"Brain tumor, posterior fossa, of infancy, familial" +GARD:0018319,Orphanet+OMIM,OMIM:613325,Subtype of disorder,Clinical subtype,Rhabdoid tumor predisposition syndrome 2, +GARD:0018320,Orphanet+OMIM,OMIM:105800,Subtype of disorder,Disease subtype,"Aneurysm, intracranial berry, 1", +GARD:0018321,Orphanet+OMIM,OMIM:300870,Subtype of disorder,Disease subtype,"Aneurysm, intracranial berry, 5", +GARD:0018322,Orphanet+OMIM,OMIM:609122,Subtype of disorder,Disease subtype,"Aneurysm, intracranial berry, 3", +GARD:0018323,Orphanet+OMIM,OMIM:610213,Subtype of disorder,Disease subtype,"Aneurysm, intracranial berry, 4", +GARD:0018324,Orphanet+OMIM,OMIM:611892,Subtype of disorder,Disease subtype,"Aneurysm, intracranial berry, 6", +GARD:0018325,Orphanet+OMIM,OMIM:612161,Subtype of disorder,Disease subtype,"Aneurysm, intracranial berry, 7", +GARD:0018326,Orphanet+OMIM,OMIM:612162,Subtype of disorder,Disease subtype,"Aneurysm, intracranial berry, 8", +GARD:0018327,Orphanet+OMIM,OMIM:612586,Subtype of disorder,Disease subtype,"Aneurysm, intracranial berry, 9", +GARD:0018328,Orphanet+OMIM,OMIM:612587,Subtype of disorder,Disease subtype,"Aneurysm, intracranial berry, 10", +GARD:0018329,Orphanet+OMIM,OMIM:614252,Subtype of disorder,Disease subtype,"Aneurysm, intracranial berry, 11", +GARD:0018330,Orphanet+OMIM,OMIM:618734,Subtype of disorder,Disease subtype,"Aneurysm, intracranial berry, 12", +GARD:0018331,Orphanet+OMIM,OMIM:203300,Subtype of disorder,Clinical subtype,Hermansky-pudlak syndrome 1,delta storage pool disease|Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells +GARD:0018332,Orphanet+OMIM,OMIM:614073,Subtype of disorder,Clinical subtype,Hermansky-pudlak syndrome 4, +GARD:0018333,Orphanet+OMIM,OMIM:614072,Subtype of disorder,Clinical subtype,Hermansky-pudlak syndrome 3, +GARD:0018334,Orphanet+OMIM,OMIM:614074,Subtype of disorder,Clinical subtype,Hermansky-pudlak syndrome 5, +GARD:0018335,Orphanet+OMIM,OMIM:614075,Subtype of disorder,Clinical subtype,Hermansky-pudlak syndrome 6, +GARD:0018336,Orphanet+OMIM,OMIM:614076,Subtype of disorder,Clinical subtype,Hermansky-pudlak syndrome 7, +GARD:0018337,Orphanet+OMIM,OMIM:614077,Subtype of disorder,Clinical subtype,Hermansky-pudlak syndrome 8, +GARD:0018338,Orphanet+OMIM,OMIM:614171,Subtype of disorder,Clinical subtype,Hermansky-pudlak syndrome 9, +GARD:0018339,Orphanet+OMIM,OMIM:619172,Subtype of disorder,Clinical subtype,Hermansky-pudlak syndrome 11, +GARD:0018340,Orphanet+OMIM,OMIM:607748,Subtype of disorder,Disease subtype,"Hypercholanemia, familial 1","Bile acid, elevated serum" +GARD:0018341,Orphanet+OMIM,OMIM:619256,Subtype of disorder,Disease subtype,"Hypercholanemia, familial, 2",Ntcp deficiency +GARD:0018342,Orphanet+OMIM,OMIM:612567,Subtype of disorder,Disease subtype,"Inflammatory bowel disease 25, autosomal recessive","Inflammatory bowel disease, early-onset, autosomal recessive" +GARD:0018343,Orphanet+OMIM,OMIM:613148,Subtype of disorder,Disease subtype,"Inflammatory bowel disease 28, autosomal recessive","Inflammatory bowel disease, early-onset, autosomal recessive" +GARD:0018344,Orphanet+OMIM,OMIM:609454,Subtype of disorder,Clinical subtype,"Supranuclear palsy, progressive, 2", +GARD:0018345,Orphanet+OMIM,OMIM:610898,Subtype of disorder,Clinical subtype,"Supranuclear palsy, progressive, 3", +GARD:0018346,Orphanet+OMIM,OMIM:612286,Subtype of disorder,Disease subtype,"Nephrolithiasis/osteoporosis, hypophosphatemic, 1", +GARD:0018347,Orphanet+OMIM,OMIM:612287,Subtype of disorder,Disease subtype,"Nephrolithiasis/osteoporosis, hypophosphatemic, 2", +GARD:0018348,Orphanet+OMIM,OMIM:615851,Subtype of disorder,Disease subtype,"Pontocerebellar hypoplasia, type 2e", +GARD:0018349,Orphanet+OMIM,OMIM:239300,Subtype of disorder,Disease subtype,Hyperphosphatasia with mental retardation syndrome 1,Mabry syndrome|glycosylphosphatidylinositol biosynthesis defect 2 +GARD:0018350,Orphanet+OMIM,OMIM:614207,Subtype of disorder,Disease subtype,Hyperphosphatasia with mental retardation syndrome 3,"Mental retardation, autosomal recessive 17|glycosylphosphatidylinositol biosynthesis defect 8|mental retardation, autosomal recessive 21" +GARD:0018351,Orphanet+OMIM,OMIM:614749,Subtype of disorder,Disease subtype,Hyperphosphatasia with mental retardation syndrome 2,Glycosylphosphatidylinositol biosynthesis defect 6 +GARD:0018352,Orphanet+OMIM,OMIM:615716,Subtype of disorder,Disease subtype,Hyperphosphatasia with mental retardation syndrome 4,Glycosylphosphatidylinositol biosynthesis defect 10 +GARD:0018353,Orphanet+OMIM,OMIM:616025,Subtype of disorder,Disease subtype,Glycosylphosphatidylinositol biosynthesis defect 11,Hyperphosphatasia with mental retardation syndrome 5 +GARD:0018354,Orphanet+OMIM,OMIM:616809,Subtype of disorder,Disease subtype,Hyperphosphatasia with mental retardation syndrome 6,Glycosylphosphatidylinositol biosynthesis defect 12 +GARD:0018355,Orphanet+OMIM,OMIM:609820,Subtype of disorder,Disease subtype,"Erythrocytosis, familial, 3", +GARD:0018356,Orphanet+OMIM,OMIM:611783,Subtype of disorder,Disease subtype,"Erythrocytosis, familial, 4", +GARD:0018357,Orphanet+OMIM,OMIM:617626,Subtype of disorder,Malformation syndrome subtype,"Fibromatosis, gingival, 5","fibromatosis, gingival, hereditary, 5|Ggf5" +GARD:0018358,Orphanet+OMIM,OMIM:614134,Subtype of disorder,Clinical subtype,"Stickler syndrome, type iv", +GARD:0018359,Orphanet+OMIM,OMIM:614284,Subtype of disorder,Clinical subtype,"Stickler syndrome, type v", +GARD:0018360,Orphanet+OMIM,OMIM:615542,Subtype of disorder,Malformation syndrome subtype,Testicular anomalies with or without congenital heart disease, +GARD:0018361,Orphanet+OMIM,OMIM:616067,Subtype of disorder,Malformation syndrome subtype,"46,xy sex reversal 9","46,xy sex reversal, zfpm2-related" +GARD:0018362,Orphanet+OMIM,OMIM:619096,Subtype of disorder,Disease subtype,Mismatch repair cancer syndrome 2, +GARD:0018363,Orphanet+OMIM,OMIM:619097,Subtype of disorder,Disease subtype,Mismatch repair cancer syndrome 3, +GARD:0018364,Orphanet+OMIM,OMIM:619101,Subtype of disorder,Disease subtype,Mismatch repair cancer syndrome 4, +GARD:0018365,Orphanet+OMIM,OMIM:231090,Subtype of disorder,Clinical subtype,"Hydatidiform mole, recurrent, 1","Hydatidiform mole|hydatidiform mole, complete|gestational trophoblastic disease" +GARD:0018366,Orphanet+OMIM,OMIM:614293,Subtype of disorder,Clinical subtype,"Hydatidiform mole, recurrent, 2","Hydatidiform mole, complete" +GARD:0018367,Orphanet+OMIM,OMIM:618431,Subtype of disorder,Clinical subtype,"Hydatidiform mole, recurrent, 3", +GARD:0018368,Orphanet+OMIM,OMIM:618432,Subtype of disorder,Clinical subtype,"Hydatidiform mole, recurrent, 4", +GARD:0018369,Orphanet+OMIM,OMIM:609560,Subtype of disorder,Disease subtype,Mitochondrial dna depletion syndrome 2 (myopathic type),"Mitochondrial dna depletion myopathy, tk2-related" +GARD:0018370,Orphanet+OMIM,OMIM:618972,Subtype of disorder,Disease subtype,Mitochondrial dna depletion syndrome 19, +GARD:0018371,Orphanet+OMIM,OMIM:618235,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 13", +GARD:0018372,Orphanet+OMIM,OMIM:618239,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 17", +GARD:0018373,Orphanet+OMIM,OMIM:618243,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 22", +GARD:0018374,Orphanet+OMIM,OMIM:618244,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 23", +GARD:0018375,Orphanet+OMIM,OMIM:618248,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 27", +GARD:0018376,Orphanet+OMIM,OMIM:618249,Subtype of disorder,Disease subtype,"Mitochondrial complex i deficiency, nuclear type 28", +GARD:0018377,Orphanet+OMIM,OMIM:618257,Subtype of disorder,Etiological subtype|Disease subtype,"Deafness, autosomal recessive 112", +GARD:0018378,Orphanet+OMIM,OMIM:607426,Subtype of disorder,Disease subtype,"Coenzyme q10 deficiency, primary, 1","coenzyme q deficiency 1|ubiquinone deficiency 1|coq deficiency 1|Coq10 deficiency, primary, 1" +GARD:0018379,Orphanet+OMIM,OMIM:614652,Subtype of disorder,Disease subtype,"Coenzyme q10 deficiency, primary, 3", +GARD:0018380,Orphanet+OMIM,OMIM:182170,Subtype of disorder,Disease subtype,"Anemia, sideroblastic, 4", +GARD:0018381,Orphanet+OMIM,OMIM:205950,Subtype of disorder,Disease subtype,"Anemia, sideroblastic, 2, pyridoxine-refractory", +GARD:0018382,Orphanet+OMIM,OMIM:617768,Subtype of disorder,Etiological subtype,Kleefstra syndrome 2, +GARD:0018383,Orphanet+OMIM,OMIM:619082,Subtype of disorder,Disease subtype,"Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1", +GARD:0018384,Orphanet+OMIM,OMIM:614212,Subtype of disorder,Disease subtype,"Encephalopathy, acute, infection-induced, susceptibility to, 4", +GARD:0018385,Orphanet+OMIM,OMIM:607174,Subtype of disorder,Disease subtype,"Meningioma, familial, susceptibility to", +GARD:0018386,Orphanet+OMIM,OMIM:306000,Subtype of disorder,Disease subtype,Glycogen storage disease ixa1,"gsd viii, formerly|glycogen storage disease viii, formerly|Liver glycogenosis, x-linked, type i" +GARD:0018387,Orphanet+OMIM,OMIM:613027,Subtype of disorder,Disease subtype,Glycogen storage disease ixc,Gsd ixc +GARD:0018388,Orphanet+OMIM,OMIM:615135,Subtype of disorder,Clinical subtype,"Maple syrup urine disease, mild variant", +GARD:0018389,Orphanet+OMIM,OMIM:189800,Subtype of disorder,Disease subtype,Preeclampsia/eclampsia 1,Preg1|pee|toxemia of pregnancy +GARD:0018390,Orphanet+OMIM,OMIM:609402,Subtype of disorder,Disease subtype,Preeclampsia/eclampsia 2, +GARD:0018391,Orphanet+OMIM,OMIM:609403,Subtype of disorder,Disease subtype,Preeclampsia/eclampsia 3, +GARD:0018392,Orphanet+OMIM,OMIM:609404,Subtype of disorder,Disease subtype,Preeclampsia/eclampsia 4, +GARD:0018393,Orphanet+OMIM,OMIM:614595,Subtype of disorder,Disease subtype,Preeclampsia/eclampsia 5, +GARD:0018394,Orphanet+OMIM,OMIM:615342,Subtype of disorder,Etiological subtype,"Pulmonary hypertension, primary, 2", +GARD:0018395,Orphanet+OMIM,OMIM:619132,Subtype of disorder,Disease subtype,Frontotemporal dementia and/or amyotrophic lateral sclerosis 8, +GARD:0018396,Orphanet+OMIM,OMIM:105550,Subtype of disorder,Disease subtype,Frontotemporal dementia and/or amyotrophic lateral sclerosis 1,amyotrophic lateral sclerosis and/or frontotemporal dementia|frontotemporal dementia and/or motor neuron disease|Frontotemporal dementia and/or amyotrophic lateral sclerosis +GARD:0018397,Orphanet+OMIM,OMIM:615911,Subtype of disorder,Disease subtype,Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, +GARD:0018398,Orphanet+OMIM,OMIM:616439,Subtype of disorder,Disease subtype,Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, +GARD:0018399,Orphanet+OMIM,OMIM:606766,Subtype of disorder,Disease subtype,Spermatogenic failure 3, +GARD:0018400,Orphanet+OMIM,OMIM:612997,Subtype of disorder,Disease subtype,Spermatogenic failure 7,"Male infertility, nonsyndromic, autosomal recessive" +GARD:0018401,Orphanet+OMIM,OMIM:614822,Subtype of disorder,Disease subtype,Spermatogenic failure 10,Spermatogenic failure with defective sperm annulus +GARD:0018402,Orphanet+OMIM,OMIM:617576,Subtype of disorder,Disease subtype,Spermatogenic failure 18, +GARD:0018403,Orphanet+OMIM,OMIM:617592,Subtype of disorder,Disease subtype,Spermatogenic failure 19, +GARD:0018404,Orphanet+OMIM,OMIM:617593,Subtype of disorder,Disease subtype,Spermatogenic failure 20, +GARD:0018405,Orphanet+OMIM,OMIM:617965,Subtype of disorder,Disease subtype,Spermatogenic failure 27, +GARD:0018406,Orphanet+OMIM,OMIM:618152,Subtype of disorder,Disease subtype,Spermatogenic failure 33, +GARD:0018407,Orphanet+OMIM,OMIM:618153,Subtype of disorder,Disease subtype,Spermatogenic failure 34, +GARD:0018408,Orphanet+OMIM,OMIM:618429,Subtype of disorder,Disease subtype,Spermatogenic failure 37, +GARD:0018409,Orphanet+OMIM,OMIM:618433,Subtype of disorder,Disease subtype,Spermatogenic failure 38, +GARD:0018410,Orphanet+OMIM,OMIM:618643,Subtype of disorder,Disease subtype,Spermatogenic failure 39, +GARD:0018411,Orphanet+OMIM,OMIM:618664,Subtype of disorder,Disease subtype,Spermatogenic failure 40, +GARD:0018412,Orphanet+OMIM,OMIM:618670,Subtype of disorder,Disease subtype,Spermatogenic failure 41, +GARD:0018413,Orphanet+OMIM,OMIM:618745,Subtype of disorder,Disease subtype,Spermatogenic failure 42, +GARD:0018414,Orphanet+OMIM,OMIM:618751,Subtype of disorder,Disease subtype,Spermatogenic failure 43, +GARD:0018415,Orphanet+OMIM,OMIM:600081,Subtype of disorder,Disease subtype,"Vitamin d hydroxylation-deficient rickets, type 1b","Vitamin d-dependent rickets, type 1b|25-hydroxyvitamin d3 deficiency, selective|pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency" +GARD:0018416,Orphanet+OMIM,OMIM:241520,Subtype of disorder,Disease subtype,"Hypophosphatemic rickets, autosomal recessive, 1","hypophosphatemia, autosomal recessive|Arhr" +GARD:0018417,Orphanet+OMIM,OMIM:613312,Subtype of disorder,Disease subtype,"Hypophosphatemic rickets, autosomal recessive, 2", +GARD:0018418,Orphanet+OMIM,OMIM:193000,Subtype of disorder,Malformation syndrome subtype,Vesicoureteral reflux 1, +GARD:0018419,Orphanet+OMIM,OMIM:610878,Subtype of disorder,Malformation syndrome subtype,Vesicoureteral reflux 2, +GARD:0018420,Orphanet+OMIM,OMIM:613674,Subtype of disorder,Malformation syndrome subtype,Vesicoureteral reflux 3, +GARD:0018421,Orphanet+OMIM,OMIM:614317,Subtype of disorder,Malformation syndrome subtype,Vesicoureteral reflux 4, +GARD:0018422,Orphanet+OMIM,OMIM:614318,Subtype of disorder,Malformation syndrome subtype,Vesicoureteral reflux 5, +GARD:0018423,Orphanet+OMIM,OMIM:614319,Subtype of disorder,Malformation syndrome subtype,Vesicoureteral reflux 6, +GARD:0018424,Orphanet+OMIM,OMIM:615390,Subtype of disorder,Malformation syndrome subtype,Vesicoureteral reflux 7, +GARD:0018425,Orphanet+OMIM,OMIM:615963,Subtype of disorder,Malformation syndrome subtype,Vesicoureteral reflux 8, +GARD:0018426,Orphanet+OMIM,OMIM:607936,Subtype of disorder,Disease subtype,Peeling skin syndrome 4,"ichthyosis, exfoliative, autosomal recessive|Ichthyosis bullosa of siemens-like" +GARD:0018427,Orphanet+OMIM,OMIM:617115,Subtype of disorder,Disease subtype,Peeling skin syndrome 5, +GARD:0018428,Orphanet+OMIM,OMIM:265050,Subtype of disorder,Malformation syndrome subtype,3mc syndrome 2,"Ptosis of eyelids with diastasis recti and hip dysplasia|oculo-skeletal-abdominal syndrome|osa syndrome|carnevale syndrome, formerly" +GARD:0018429,Orphanet+OMIM,OMIM:614328,Subtype of disorder,Disease subtype,"Inflammatory skin and bowel disease, neonatal, 1", +GARD:0018430,Orphanet+OMIM,OMIM:616069,Subtype of disorder,Disease subtype,"Inflammatory skin and bowel disease, neonatal, 2", +GARD:0018431,Orphanet+OMIM,OMIM:208540,Subtype of disorder,Malformation syndrome subtype,Renal-hepatic-pancreatic dysplasia 1,Rhpd +GARD:0018432,Orphanet+OMIM,OMIM:615415,Subtype of disorder,Malformation syndrome subtype,Renal-hepatic-pancreatic dysplasia 2, +GARD:0018433,Orphanet+OMIM,OMIM:300942,Subtype of disorder,Disease subtype,Chromosome xq26.3 duplication syndrome, +GARD:0018434,Orphanet+OMIM,OMIM:143880,Subtype of disorder,Disease subtype,"Hypercalcemia, infantile, 1","Hypercalcemia, idiopathic, of infancy" +GARD:0018435,Orphanet+OMIM,OMIM:616963,Subtype of disorder,Disease subtype,"Hypercalcemia, infantile, 2", +GARD:0018436,Orphanet+OMIM,OMIM:604185,Subtype of disorder,Morphological anomaly subtype,"Facial paresis, hereditary congenital, 2", +GARD:0018437,Orphanet+OMIM,OMIM:614744,Subtype of disorder,Morphological anomaly subtype,"Facial paresis, hereditary congenital, 3", +GARD:0018438,Orphanet+OMIM,OMIM:614231,Subtype of disorder,Disease subtype,"Microcephaly, epilepsy, and diabetes syndrome 1",Meds +GARD:0018439,Orphanet+OMIM,OMIM:619278,Subtype of disorder,Disease subtype,"Microcephaly, epilepsy, and diabetes syndrome 2", +GARD:0018440,Orphanet+OMIM,OMIM:615551,Subtype of disorder,Disease subtype,"Episodic pain syndrome, familial, 2", +GARD:0018441,Orphanet+OMIM,OMIM:612199,Subtype of disorder,Disease subtype,Cerebroretinal microangiopathy with calcifications and cysts 1,Crmcc|coats plus syndrome +GARD:0018442,Orphanet+OMIM,OMIM:617341,Subtype of disorder,Disease subtype,Cerebroretinal microangiopathy with calcifications and cysts 2, +GARD:0018443,Orphanet+OMIM,OMIM:614881,Subtype of disorder,Disease subtype,"Spinal muscular atrophy, distal, autosomal recessive, 5", +GARD:0018444,Orphanet+OMIM,OMIM:619216,Subtype of disorder,Disease subtype,"Neuropathy, hereditary motor, with myopathic features", +GARD:0018445,Orphanet+OMIM,OMIM:300854,Subtype of disorder,Disease subtype,"Renal cell carcinoma, xp11-associated", +GARD:0018446,Orphanet+OMIM,OMIM:617591,Subtype of disorder,Disease subtype,Proteasome-associated autoinflammatory syndrome 3, +GARD:0018447,Orphanet+OMIM,OMIM:618048,Subtype of disorder,Disease subtype,Proteasome-associated autoinflammatory syndrome 2, +GARD:0018448,Orphanet+OMIM,OMIM:619175,Subtype of disorder,Disease subtype,Proteasome-associated autoinflammatory syndrome 5, +GARD:0018449,Orphanet+OMIM,OMIM:619183,Subtype of disorder,Disease subtype,Proteasome-associated autoinflammatory syndrome 4, +GARD:0018450,Orphanet+OMIM,OMIM:616479,Subtype of disorder,Disease subtype,"Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2","Progressive external ophthalmoplegia, autosomal recessive 2" +GARD:0018451,Orphanet+OMIM,OMIM:610542,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 12","Myasthenic syndrome, congenital, with tubular aggregates 1" +GARD:0018452,Orphanet+OMIM,OMIM:614750,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 13","Myasthenic syndrome, congenital, with tubular aggregates 2" +GARD:0018453,Orphanet+OMIM,OMIM:616227,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 15","Myasthenic syndrome, congenital, without tubular aggregates" +GARD:0018454,Orphanet+OMIM,OMIM:616228,Subtype of disorder,Etiological subtype,"Myasthenic syndrome, congenital, 14","Myasthenic syndrome, congenital, with tubular aggregates 3" +GARD:0018455,Orphanet+OMIM,OMIM:613151,Subtype of disorder,Disease subtype,"Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3","Muscular dystrophy, congenital, pomgnt1-related" +GARD:0018456,Orphanet+OMIM,OMIM:613152,Subtype of disorder,Disease subtype,"Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4","Muscular dystrophy, congenital, fktn-related" +GARD:0018457,Orphanet+OMIM,OMIM:615419,Subtype of disorder,Disease subtype,"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1",Ihprf +GARD:0018458,Orphanet+OMIM,OMIM:616801,Subtype of disorder,Disease subtype,"Hypotonia, infantile, with psychomotor retardation and characteristic facies 2", +GARD:0018459,Orphanet+OMIM,OMIM:616033,Subtype of disorder,Disease subtype,"Microcephaly, short stature, and impaired glucose metabolism 1",Mssgm +GARD:0018460,Orphanet+OMIM,OMIM:616817,Subtype of disorder,Disease subtype,"Microcephaly, short stature, and impaired glucose metabolism 2", +GARD:0018461,Orphanet+OMIM,OMIM:615528,Subtype of disorder,Disease subtype,"Parkinson disease 19a, juvenile-onset","Park19, formerly" +GARD:0018462,Orphanet+OMIM,OMIM:615530,Subtype of disorder,Disease subtype,"Parkinson disease 20, early-onset", +GARD:0018463,Orphanet+OMIM,OMIM:616489,Subtype of disorder,Etiological subtype,Silver-russell syndrome 3,"Growth restriction, severe, with distinctive facies" +GARD:0018464,Orphanet+OMIM,OMIM:618907,Subtype of disorder,Etiological subtype,Silver-russell syndrome 4, +GARD:0018465,Orphanet+OMIM,OMIM:618908,Subtype of disorder,Etiological subtype,Silver-russell syndrome 5, +GARD:0018466,Orphanet+OMIM,OMIM:615595,Subtype of disorder,Disease subtype,Combined oxidative phosphorylation deficiency 19, +GARD:0018467,Orphanet+OMIM,OMIM:616546,Subtype of disorder,Malformation syndrome subtype,Short-rib thoracic dysplasia 14 with polydactyly, +GARD:0018468,Orphanet+OMIM,OMIM:615592,Subtype of disorder,Disease subtype,Immunodeficiency 15b, +GARD:0018469,Orphanet+OMIM,OMIM:618204,Subtype of disorder,Disease subtype,Immunodeficiency 15a, +GARD:0018470,Orphanet+OMIM,OMIM:109730,Subtype of disorder,Morphological anomaly subtype,Aortic valve disease 1,"aortic valve, bicuspid|aortic stenosis, calcific|Aortic valve disease|bicuspid aortic valve|aortic valve, calcification of" +GARD:0018471,Orphanet+OMIM,OMIM:614823,Subtype of disorder,Morphological anomaly subtype,Aortic valve disease 2,aortic valve stenosis|Bicuspid aortic valve +GARD:0018472,Orphanet+OMIM,OMIM:155600,Subtype of disorder,Disease subtype,"Melanoma, cutaneous malignant, susceptibility to, 1","melanoma, malignant|melanoma, familial|Melanoma, cutaneous malignant|b-k mole syndrome|dysplastic nevus syndrome, hereditary|familial atypical mole-malignant melanoma syndrome" +GARD:0018473,Orphanet+OMIM,OMIM:606719,Subtype of disorder,Disease subtype,Melanoma-pancreatic cancer syndrome,Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome +GARD:0018474,Orphanet+OMIM,OMIM:168601,Subtype of disorder,Disease subtype,"Parkinson disease 1, autosomal dominant","Parkinson disease 1, autosomal dominant lewy body" +GARD:0018475,Orphanet+OMIM,OMIM:605543,Subtype of disorder,Disease subtype,"Parkinson disease 4, autosomal dominant","Parkinson disease 4, autosomal dominant lewy body" +GARD:0018476,Orphanet+OMIM,OMIM:607060,Subtype of disorder,Disease subtype,"Parkinson disease 8, autosomal dominant", +GARD:0018477,Orphanet+OMIM,OMIM:607688,Subtype of disorder,Disease subtype,"Parkinson disease 11, autosomal dominant, susceptibility to", +GARD:0018478,Orphanet+OMIM,OMIM:614203,Subtype of disorder,Disease subtype,Parkinson disease 17, +GARD:0018479,Orphanet+OMIM,OMIM:614251,Subtype of disorder,Disease subtype,"Parkinson disease 18, autosomal dominant, susceptibility to", +GARD:0018480,Orphanet+OMIM,OMIM:616361,Subtype of disorder,Disease subtype,Parkinson disease 21, +GARD:0018481,Orphanet+OMIM,OMIM:251270,Subtype of disorder,Malformation syndrome subtype,"Microcephaly and chorioretinopathy, autosomal recessive, 1", +GARD:0018482,Orphanet+OMIM,OMIM:616335,Subtype of disorder,Malformation syndrome subtype,"Microcephaly and chorioretinopathy, autosomal recessive, 3", +GARD:0018483,Orphanet+OMIM,OMIM:616541,Subtype of disorder,Malformation syndrome subtype,"Short stature, microcephaly, and endocrine dysfunction", +GARD:0018484,Orphanet+OMIM,OMIM:617253,Subtype of disorder,Malformation syndrome subtype,Seckel syndrome 10, +GARD:0018485,Orphanet+OMIM,OMIM:612591,Subtype of disorder,Clinical subtype,"Colorectal cancer, susceptibility to, 10","Colorectal cancer, susceptibility to, on chromosome 19q" +GARD:0018486,Orphanet+OMIM,OMIM:615083,Subtype of disorder,Clinical subtype,"Colorectal cancer, susceptibility to, 12","Colorectal cancer, susceptibility to, on chromosome 12q24" +GARD:0018487,Orphanet+OMIM,OMIM:613000,Subtype of disorder,Disease subtype,"Palmoplantar keratoderma, nonepidermolytic, focal 1","keratoderma, focal nonepidermolytic palmoplantar|Ppkfne|focal nonepidermolytic palmoplantar keratoderma" +GARD:0018488,Orphanet+OMIM,OMIM:616400,Subtype of disorder,Disease subtype,"Palmoplantar keratoderma, nonepidermolytic, focal 2", +GARD:0018489,Orphanet+OMIM,OMIM:617035,Subtype of disorder,Morphological anomaly subtype,Patent ductus arteriosus 2, +GARD:0018490,Orphanet+OMIM,OMIM:617039,Subtype of disorder,Morphological anomaly subtype,Patent ductus arteriosus 3, +GARD:0018491,Orphanet+OMIM,OMIM:616913,Subtype of disorder,Disease subtype,"Bleeding disorder, platelet-type, 20", +GARD:0018492,Orphanet+OMIM,OMIM:619130,Subtype of disorder,Disease subtype,Thrombocytopenia 7,"Thrombocytopenia, autosomal dominant, 7" +GARD:0018493,Orphanet+OMIM,OMIM:610448,Subtype of disorder,Disease subtype,Chilblain lupus 1, +GARD:0018494,Orphanet+OMIM,OMIM:614415,Subtype of disorder,Disease subtype,Chilblain lupus 2, +GARD:0018495,Orphanet+OMIM,OMIM:616867,Subtype of disorder,Disease subtype,Spinal muscular atrophy with congenital bone fractures 2, +GARD:0018496,Orphanet+OMIM,OMIM:616780,Subtype of disorder,Disease subtype,Oocyte maturation defect 2, +GARD:0018497,Orphanet+OMIM,OMIM:617743,Subtype of disorder,Disease subtype,Oocyte maturation defect 4, +GARD:0018498,Orphanet+OMIM,OMIM:619009,Subtype of disorder,Disease subtype,Oocyte maturation defect 8, +GARD:0018499,Orphanet+OMIM,OMIM:619011,Subtype of disorder,Disease subtype,Oocyte maturation defect 9, +GARD:0018500,Orphanet+OMIM,OMIM:619176,Subtype of disorder,Disease subtype,Oocyte maturation defect 10, +GARD:0018501,Orphanet+OMIM,OMIM:616973,Subtype of disorder,Malformation syndrome subtype,"Intellectual developmental disorder, autosomal dominant 42","Mental retardation, autosomal dominant 42" +GARD:0018502,Orphanet+OMIM,OMIM:616917,Subtype of disorder,Disease subtype,"Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy","intellectual developmental disorder, autosomal recessive 53, formerly|Glycosylphosphatidylinositol biosynthesis defect 13|mental retardation, autosomal recessive 53, formerly" +GARD:0018503,Orphanet+OMIM,OMIM:400042,Subtype of disorder,Malformation syndrome subtype,"Spermatogenic failure, y-linked, 1", +GARD:0018504,Orphanet+OMIM,OMIM:415000,Subtype of disorder,Malformation syndrome subtype,"Spermatogenic failure, y-linked, 2","Spermatogenic failure, nonobstructive, y-linked|spermatogenic arrest, y-linked|azoospermia, nonobstructive, y-linked|oligozoospermia, nonobstructive, y-linked|oligospermia, nonobstructive, y-linked" +GARD:0018505,Orphanet+OMIM,OMIM:252270,Subtype of disorder,Disease subtype,Monosomy 7 myelodysplasia and leukemia syndrome 1,monosomy 7 of bone marrow|Mlsm7|chromosome 7q deletion +GARD:0018506,Orphanet+OMIM,OMIM:619041,Subtype of disorder,Disease subtype,Monosomy 7 myelodysplasia and leukemia syndrome 2, +GARD:0018507,Orphanet+OMIM,OMIM:618097,Subtype of disorder,Disease subtype,"Microcephaly, growth restriction, and increased sister chromatid exchange 2", +GARD:0018508,Orphanet+OMIM,OMIM:617660,Subtype of disorder,Malformation syndrome subtype,"Vertebral, cardiac, renal, and limb defects syndrome 1",3-hydroxyanthranilic acidemia|Congenital nad deficiency disorder 1 +GARD:0018509,Orphanet+OMIM,OMIM:617661,Subtype of disorder,Malformation syndrome subtype,"Vertebral, cardiac, renal, and limb defects syndrome 2","Congenital nad deficiency disorder 2|kynureninase deficiency, complete" +GARD:0018510,Orphanet+OMIM,OMIM:618845,Subtype of disorder,Malformation syndrome subtype,"Vertebral, cardiac, renal, and limb defects syndrome 3",Congenital nad deficiency disorder 3 +GARD:0018511,Orphanet+OMIM,OMIM:301029,Subtype of disorder,Disease subtype,Shukla-vernon syndrome, +GARD:0018512,Orphanet+OMIM,OMIM:606053,Subtype of disorder,Disease subtype,Intellectual developmental disorder with autism and speech delay,"autism-related speech delay|Phrase speech delay, autism-related|autism, susceptibility to, 5, formerly" +GARD:0018513,Orphanet+OMIM,OMIM:617755,Subtype of disorder,Disease subtype,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, +GARD:0018514,Orphanet+OMIM,OMIM:618009,Subtype of disorder,Disease subtype,"Intellectual developmental disorder, autosomal dominant 61","Mental retardation, autosomal dominant 61" +GARD:0018515,Orphanet+OMIM,OMIM:618292,Subtype of disorder,Disease subtype,"Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia", +GARD:0018516,Orphanet+OMIM,OMIM:618342,Subtype of disorder,Disease subtype,"Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature", +GARD:0018517,Orphanet+OMIM,OMIM:618430,Subtype of disorder,Disease subtype,Developmental delay with variable intellectual impairment and behavioral abnormalities, +GARD:0018518,Orphanet+OMIM,OMIM:618470,Subtype of disorder,Disease subtype,Intellectual developmental disorder with severe speech and ambulation defects, +GARD:0018519,Orphanet+OMIM,OMIM:618569,Subtype of disorder,Disease subtype,"Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly", +GARD:0018520,Orphanet+OMIM,OMIM:618653,Subtype of disorder,Disease subtype,Intellectual developmental disorder with impaired language and dysmorphic facies, +GARD:0018521,Orphanet+OMIM,OMIM:618659,Subtype of disorder,Disease subtype,Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, +GARD:0018522,Orphanet+OMIM,OMIM:618906,Subtype of disorder,Disease subtype,"Intellectual developmental disorder with autistic features and language delay, with or without seizures", +GARD:0018523,Orphanet+OMIM,OMIM:618914,Subtype of disorder,Disease subtype,"Neurodevelopmental, jaw, eye, and digital syndrome", +GARD:0018524,Orphanet+OMIM,OMIM:618922,Subtype of disorder,Disease subtype,"Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities", +GARD:0018525,Orphanet+OMIM,OMIM:618971,Subtype of disorder,Disease subtype,Tolchin-le caignec syndrome,Intellectual developmental disorder with behavioral abnormalities and variable bone defects +GARD:0018526,Orphanet+OMIM,OMIM:618974,Subtype of disorder,Disease subtype,Li-ghorbani-weisz-hubshman syndrome, +GARD:0018527,Orphanet+OMIM,OMIM:619000,Subtype of disorder,Disease subtype,Intellectual developmental disorder with seizures and language delay, +GARD:0018528,Orphanet+OMIM,OMIM:619005,Subtype of disorder,Disease subtype,"Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia", +GARD:0018529,Orphanet+OMIM,OMIM:619031,Subtype of disorder,Disease subtype,"Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies", +GARD:0018530,Orphanet+OMIM,OMIM:619056,Subtype of disorder,Disease subtype,Neurodevelopmental disorder with speech impairment and dysmorphic facies, +GARD:0018531,Orphanet+OMIM,OMIM:619072,Subtype of disorder,Disease subtype,Neurodevelopmental disorder with seizures and brain atrophy, +GARD:0018532,Orphanet+OMIM,OMIM:619076,Subtype of disorder,Disease subtype,"Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy", +GARD:0018533,Orphanet+OMIM,OMIM:619083,Subtype of disorder,Disease subtype,Delpire-mcneill syndrome, +GARD:0018534,Orphanet+OMIM,OMIM:619091,Subtype of disorder,Disease subtype,"Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities", +GARD:0018535,Orphanet+OMIM,OMIM:619092,Subtype of disorder,Disease subtype,"Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities", +GARD:0018536,Orphanet+OMIM,OMIM:619099,Subtype of disorder,Disease subtype,Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, +GARD:0018537,Orphanet+OMIM,OMIM:619125,Subtype of disorder,Disease subtype,Kaya-barakat-masson syndrome, +GARD:0018538,Orphanet+OMIM,OMIM:619149,Subtype of disorder,Disease subtype,Lessel-kreienkamp syndrome, +GARD:0018539,Orphanet+OMIM,OMIM:619157,Subtype of disorder,Disease subtype,Neurodevelopmental disorder with or without early-onset generalized epilepsy, +GARD:0018540,Orphanet+OMIM,OMIM:619239,Subtype of disorder,Disease subtype,Neurodevelopmental disorder with or without autism or seizures, +GARD:0018541,Orphanet+OMIM,OMIM:619243,Subtype of disorder,Disease subtype,Global developmental delay with speech and behavioral abnormalities, +GARD:0018542,Orphanet+OMIM,OMIM:619244,Subtype of disorder,Disease subtype,Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, +GARD:0018543,Orphanet+OMIM,OMIM:619264,Subtype of disorder,Disease subtype,Neurodevelopmental disorder with dysmorphic facies and variable seizures, +GARD:0018544,Orphanet+OMIM,OMIM:619268,Subtype of disorder,Disease subtype,Alzahrani-kuwahara syndrome,Neurodevelopmental disorder with dysmorphic facies and cataracts +GARD:0018545,Orphanet+OMIM,OMIM:619306,Subtype of disorder,Disease subtype,Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, +GARD:0018546,Orphanet+OMIM,OMIM:619314,Subtype of disorder,Disease subtype,Buratti-harel syndrome, +GARD:0018547,Orphanet+OMIM,OMIM:619320,Subtype of disorder,Disease subtype,"Intellectual developmental disorder, autosomal dominant 65","Mental retardation, autosomal dominant 65" +GARD:0018548,Orphanet+OMIM,OMIM:616331,Subtype of disorder,Clinical subtype,"Robinow syndrome, autosomal dominant 2", +GARD:0018549,Orphanet+OMIM,OMIM:616894,Subtype of disorder,Clinical subtype,"Robinow syndrome, autosomal dominant 3", +GARD:0018550,Orphanet+OMIM,OMIM:235400,Subtype of disorder,Etiological subtype,"Hemolytic uremic syndrome, atypical, susceptibility to, 1","Ahus, susceptibility to, 1" +GARD:0018551,Orphanet+OMIM,OMIM:609814,Subtype of disorder,Etiological subtype,Complement factor h deficiency,cfh deficiency|factor h deficiency|C3 glomerulopathy 1 +GARD:0018552,Orphanet+OMIM,OMIM:612922,Subtype of disorder,Etiological subtype,"Hemolytic uremic syndrome, atypical, susceptibility to, 2","Ahus, susceptibility to, 2" +GARD:0018553,Orphanet+OMIM,OMIM:612923,Subtype of disorder,Etiological subtype,"Hemolytic uremic syndrome, atypical, susceptibility to, 3","Ahus, susceptibility to, 3" +GARD:0018554,Orphanet+OMIM,OMIM:612924,Subtype of disorder,Etiological subtype,"Hemolytic uremic syndrome, atypical, susceptibility to, 4","Ahus, susceptibility to, 4" +GARD:0018555,Orphanet+OMIM,OMIM:612925,Subtype of disorder,Etiological subtype,"Hemolytic uremic syndrome, atypical, susceptibility to, 5","Ahus, susceptibility to, 5" +GARD:0018556,Orphanet+OMIM,OMIM:612926,Subtype of disorder,Etiological subtype,"Hemolytic uremic syndrome, atypical, susceptibility to, 6","Ahus, susceptibility to, 6" +GARD:0018557,Orphanet+OMIM,OMIM:615008,Subtype of disorder,Etiological subtype,"Nephrotic syndrome, type 7","Nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis" +GARD:0018558,Orphanet+OMIM,OMIM:190440,Subtype of disorder,Morphological anomaly subtype,Trigonocephaly 1,"Craniosynostosis, metopic" +GARD:0018559,Orphanet+OMIM,OMIM:614485,Subtype of disorder,Morphological anomaly subtype,Trigonocephaly 2,"Craniosynostosis, metopic" +GARD:0018560,Orphanet+OMIM,OMIM:619217,Subtype of disorder,Malformation syndrome subtype,"Endove syndrome, limb-only type", +GARD:0018561,Orphanet+OMIM,OMIM:619218,Subtype of disorder,Malformation syndrome subtype,"Endove syndrome, limb-brain type","Mesomelia of lower extremities with hand, foot, and brain anomalies" +GARD:0018562,Orphanet+OMIM,OMIM:619301,Subtype of disorder,Malformation syndrome subtype,"Pontocerebellar hypoplasia, type 14", +GARD:0018563,Orphanet+OMIM,OMIM:619302,Subtype of disorder,Malformation syndrome subtype,"Pontocerebellar hypoplasia, type 15", +GARD:0018564,Orphanet+OMIM,OMIM:616286,Subtype of disorder,Malformation syndrome subtype,Lethal congenital contracture syndrome 7, +GARD:0018565,Orphanet+OMIM,OMIM:616287,Subtype of disorder,Malformation syndrome subtype,Lethal congenital contracture syndrome 8, +GARD:0018566,Orphanet+OMIM,OMIM:617468,Subtype of disorder,Malformation syndrome subtype,"Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect","Arthrogryposis multiplex congenita, neurogenic, with myelin defect" +GARD:0018567,Orphanet+OMIM,OMIM:618186,Subtype of disorder,Malformation syndrome subtype,"Neuropathy, congenital hypomyelinating, 3", +GARD:0018568,Orphanet+OMIM,OMIM:612336,Subtype of disorder,Disease subtype,"Thrombophilia due to protein s deficiency, autosomal dominant", +GARD:0018569,Orphanet+OMIM,OMIM:614514,Subtype of disorder,Disease subtype,"Thrombophilia due to protein s deficiency, autosomal recessive", +GARD:0018570,Orphanet+OMIM,OMIM:604377,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 2","cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" +GARD:0018571,Orphanet+OMIM,OMIM:615119,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 6","Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" +GARD:0018572,Orphanet+OMIM,OMIM:616500,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 9","Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" +GARD:0018573,Orphanet+OMIM,OMIM:616501,Subtype of disorder,Disease subtype,"Mitochondrial complex iv deficiency, nuclear type 13","Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4" +GARD:0018574,Orphanet+OMIM,OMIM:176860,Subtype of disorder,Disease subtype,"Thrombophilia due to protein c deficiency, autosomal dominant","proc deficiency, autosomal dominant|Protein c deficiency, autosomal dominant" +GARD:0018575,Orphanet+OMIM,OMIM:155601,Subtype of disorder,Disease subtype,"Melanoma, cutaneous malignant, susceptibility to, 2", +GARD:0018576,Orphanet+OMIM,OMIM:155700,Subtype of disorder,Disease subtype,"Melanoma, malignant familial intraocular", +GARD:0018577,Orphanet+OMIM,OMIM:608035,Subtype of disorder,Disease subtype,"Melanoma, cutaneous malignant, susceptibility to, 4", +GARD:0018578,Orphanet+OMIM,OMIM:609048,Subtype of disorder,Disease subtype,"Melanoma, cutaneous malignant, susceptibility to, 3", +GARD:0018579,Orphanet+OMIM,OMIM:613099,Subtype of disorder,Disease subtype,"Melanoma, cutaneous malignant, susceptibility to, 5", +GARD:0018580,Orphanet+OMIM,OMIM:613972,Subtype of disorder,Disease subtype,"Melanoma, cutaneous malignant, susceptibility to, 6", +GARD:0018581,Orphanet+OMIM,OMIM:615134,Subtype of disorder,Disease subtype,"Melanoma, cutaneous malignant, susceptibility to, 9", +GARD:0018582,Orphanet+OMIM,OMIM:615848,Subtype of disorder,Disease subtype,"Melanoma, cutaneous malignant, susceptibility to, 10", +GARD:0018583,Orphanet+OMIM,OMIM:143870,Subtype of disorder,Disease subtype,"Hypercalciuria, absorptive, 2","Hypercalciuria, familial idiopathic" +GARD:0018584,Orphanet+OMIM,OMIM:607258,Subtype of disorder,Disease subtype,"Hypercalciuria, absorptive, 1", +GARD:0018585,Orphanet+OMIM,OMIM:615237,Subtype of disorder,Morphological anomaly subtype,Congenital short bowel syndrome, +GARD:0018586,Orphanet+OMIM,OMIM:164750,Subtype of disorder,Morphological anomaly subtype,"Omphalocele, autosomal", +GARD:0018587,Orphanet+OMIM,OMIM:310980,Subtype of disorder,Morphological anomaly subtype,"Omphalocele, x-linked", +GARD:0018588,Orphanet+OMIM,OMIM:617524,Subtype of disorder,Disease subtype,Erythrokeratodermia variabilis et progressiva 2, +GARD:0018589,Orphanet+OMIM,OMIM:617525,Subtype of disorder,Disease subtype,Erythrokeratodermia variabilis et progressiva 3, +GARD:0018590,Orphanet+OMIM,OMIM:617526,Subtype of disorder,Disease subtype,Erythrokeratodermia variabilis et progressiva 4, +GARD:0018591,Orphanet+OMIM,OMIM:129490,Subtype of disorder,Etiological subtype,"Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant","Ectodermal dysplasia, hypohidrotic, autosomal dominant" +GARD:0018592,Orphanet+OMIM,OMIM:614940,Subtype of disorder,Etiological subtype,"Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant","Ectodermal dysplasia, hypohidrotic, autosomal dominant" +GARD:0018593,Orphanet+OMIM,OMIM:617337,Subtype of disorder,Etiological subtype,"Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type", +GARD:0018594,Orphanet+OMIM,OMIM:181000,Subtype of disorder,Disease subtype,"Sarcoidosis, susceptibility to, 1",boeck sarcoid|Sarcoidosis +GARD:0018595,Orphanet+OMIM,OMIM:612387,Subtype of disorder,Disease subtype,"Sarcoidosis, susceptibility to, 2", +GARD:0018596,Orphanet+OMIM,OMIM:612388,Subtype of disorder,Disease subtype,"Sarcoidosis, susceptibility to, 3", +GARD:0018597,Orphanet+OMIM,OMIM:173900,Subtype of disorder,Disease subtype,Polycystic kidney disease 1 with or without polycystic liver disease,"potter type iii polycystic kidney disease, formerly|polycystic kidney disease, adult, type i|Polycystic kidney disease, adult" +GARD:0018598,Orphanet+OMIM,OMIM:600666,Subtype of disorder,Disease subtype,Polycystic kidney disease 3 with or without polycystic liver disease,"Polycystic kidney disease, adult, type iii" +GARD:0018599,Orphanet+OMIM,OMIM:613095,Subtype of disorder,Disease subtype,Polycystic kidney disease 2 with or without polycystic liver disease,"Polycystic kidney disease, adult, type ii" +GARD:0018600,Orphanet+OMIM,OMIM:614839,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 10 with or without anosmia, +GARD:0018601,Orphanet+OMIM,OMIM:614842,Subtype of disorder,Clinical subtype,Hypogonadotropic hypogonadism 13 with or without anosmia, +GARD:0018602,Orphanet+OMIM,OMIM:125700,Subtype of disorder,Clinical subtype,"Diabetes insipidus, neurohypophyseal","diabetes insipidus, cranial type|Diabetes insipidus, primary central" +GARD:0018603,Orphanet+OMIM,OMIM:304900,Subtype of disorder,Clinical subtype,"Diabetes insipidus, neurohypophyseal, x-linked", +GARD:0018604,Orphanet+OMIM,OMIM:300557,Subtype of disorder,Disease subtype,Parkinson disease 12, +GARD:0018605,Orphanet+OMIM,OMIM:605909,Subtype of disorder,Disease subtype,"Parkinson disease 6, autosomal recessive early-onset","Parkinson disease 6, early-onset" +GARD:0018606,Orphanet+OMIM,OMIM:606324,Subtype of disorder,Disease subtype,"Parkinson disease 7, autosomal recessive early-onset", +GARD:0018607,Orphanet+OMIM,OMIM:606852,Subtype of disorder,Disease subtype,Parkinson disease 10, +GARD:0018608,Orphanet+OMIM,OMIM:610297,Subtype of disorder,Disease subtype,"Parkinson disease 13, autosomal dominant, susceptibility to", +GARD:0018609,Orphanet+OMIM,OMIM:613643,Subtype of disorder,Disease subtype,"Parkinson disease 5, autosomal dominant, susceptibility to", +GARD:0018610,Orphanet+OMIM,OMIM:616840,Subtype of disorder,Disease subtype,"Parkinson disease 23, autosomal recessive early-onset", +GARD:0018611,Orphanet+OMIM,OMIM:108770,Subtype of disorder,Disease subtype,Atrial standstill 1,"Atrial cardiomyopathy with heart block|cardiomyopathy, familial, with conduction disturbance" +GARD:0018612,Orphanet+OMIM,OMIM:615745,Subtype of disorder,Disease subtype,Atrial standstill 2,"Atrial dilation and standstill|cardiomyopathy, atrial dilated, with atrial standstill" +GARD:0018613,Orphanet+OMIM,OMIM:602247,Subtype of disorder,Disease subtype,"Xanthomatosis, susceptibility to", +GARD:0018614,Orphanet+OMIM,OMIM:603813,Subtype of disorder,Disease subtype,"Hypercholesterolemia, familial, 4","fhcb1, formerly|hypercholesterolemia, autosomal recessive, 2, formerly|hypercholesterolemia, autosomal recessive, 1, formerly|fhcb2, formerly|Hypercholesterolemia, autosomal recessive" +GARD:0018615,Orphanet,ORPHA:300751,Disorder,Disease,Familial dilated cardiomyopathy with conduction defect due to LMNA mutation, +GARD:0018616,Orphanet+OMIM,OMIM:159900,Subtype of disorder,Disease subtype,"Dystonia 11, myoclonic","myoclonus, hereditary essential|Myoclonus-dystonia syndrome|myoclonic dystonia|dystonia, alcohol-responsive" +GARD:0018617,Orphanet+OMIM,OMIM:300672,Subtype of disorder,Clinical syndrome subtype|Disease subtype,Developmental and epileptic encephalopathy 2,"infantile spasm syndrome, x-linked 2|Epileptic encephalopathy, early infantile, 2" +GARD:0018619,Orphanet+OMIM,OMIM:606070,Subtype of disorder,Disease subtype,Amyotrophic lateral sclerosis 21,"Multisystem proteinopathy 5|vocal cord and pharyngeal dysfunction with distal myopathy, formerly|myopathy, distal, 2, formerly" +GARD:0018620,Orphanet+OMIM,OMIM:610489,Subtype of disorder,Disease subtype,"Pigmented nodular adrenocortical disease, primary, 1","cushing syndrome, adrenal, due to ppnad1|adrenocortical nodular dysplasia, primary|Pigmented micronodular adrenocortical disease, primary, 1" +GARD:0018621,Orphanet+OMIM,OMIM:615878,Subtype of disorder,Clinical subtype,"Cholestasis, progressive familial intrahepatic, 4", +GARD:0018622,Orphanet+OMIM,OMIM:616266,Subtype of disorder,Malformation syndrome subtype,"Congenital contractures of the limbs and face, hypotonia, and developmental delay", +GARD:0018623,Orphanet+OMIM,OMIM:156200,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal dominant 1","Mental retardation, autosomal dominant 1" +GARD:0018624,Orphanet+OMIM,OMIM:614381,Subtype of disorder,Clinical subtype,"Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism",cerebellar hypoplasia with endosteal sclerosis|4h leukodystrophy 2 +GARD:0018625,Orphanet+OMIM,OMIM:600165,Subtype of disorder,Malformation syndrome subtype,Nanophthalmos 1, +GARD:0018626,Orphanet+OMIM,OMIM:609549,Subtype of disorder,Malformation syndrome subtype,Nanophthalmos 2,"Nanophthalmia 2|nanophthalmos, autosomal recessive" +GARD:0018627,Orphanet+OMIM,OMIM:611897,Subtype of disorder,Malformation syndrome subtype,Nanophthalmos 3, +GARD:0018628,Orphanet+OMIM,OMIM:613517,Subtype of disorder,Malformation syndrome subtype,"Microphthalmia, isolated 6","Microphthalmia, posterior nonsyndromic" +GARD:0018629,Orphanet+OMIM,OMIM:615972,Subtype of disorder,Malformation syndrome subtype,Nanophthalmos 4,Nanophthalmia 4 +GARD:0018630,Orphanet+OMIM,OMIM:227300,Subtype of disorder,Disease subtype,"Factor v and factor viii, combined deficiency of, 1",fmfd i|Familial multiple coagulation factor deficiency i|multiple coagulation factor deficiency i +GARD:0018631,Orphanet+OMIM,OMIM:227310,Subtype of disorder,Disease subtype,"Factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor", +GARD:0018632,Orphanet+OMIM,OMIM:613625,Subtype of disorder,Disease subtype,"Factor v and factor viii, combined deficiency of, 2", +GARD:0018633,Orphanet+OMIM,OMIM:609620,Subtype of disorder,Disease subtype,Short qt syndrome 1, +GARD:0018634,Orphanet+OMIM,OMIM:609621,Subtype of disorder,Disease subtype,Short qt syndrome 2, +GARD:0018635,Orphanet+OMIM,OMIM:609622,Subtype of disorder,Disease subtype,Short qt syndrome 3, +GARD:0018636,Orphanet+OMIM,OMIM:264700,Subtype of disorder,Disease subtype,"Vitamin d hydroxylation-deficient rickets, type 1a","1-alpha, 25-hydroxyvitamin d3 deficiency, selective|pseudovitamin d-deficiency rickets, type ia|25-hydroxycholecalciferol-1-hydroxylase deficiency|1-alpha-hydroxylase deficiency|vitamin d dependency, type 1|Vitamin d-dependent rickets, type 1a|pddr ia" +GARD:0018637,Orphanet+OMIM,OMIM:105250,Subtype of disorder,Disease subtype,"Amyloidosis, primary localized cutaneous, 1","Amyloidosis, primary cutaneous, 1|amyloidosis, familial cutaneous lichen|pca|lichen amyloidosis, familial|amyloidosis ix" +GARD:0018638,Orphanet+OMIM,OMIM:613955,Subtype of disorder,Disease subtype,"Amyloidosis, primary localized cutaneous, 2", +GARD:0018639,Orphanet,ORPHA:316,Disorder,Disease,Progressive symmetric erythrokeratodermia,"Darier-Gottron disease|Erythrokeratodermia progressiva symmetrica|Progressive symmetric erythrokeratodermia, Gottron type" +GARD:0018640,Orphanet,ORPHA:777,Subtype of disorder,Etiological subtype,X-linked non-syndromic intellectual disability, +GARD:0018641,Orphanet,ORPHA:36387,Disorder,Disease,Generalized epilepsy with febrile seizures-plus,GEFS+|Genetic epilepsy with febrile seizures-plus +GARD:0018642,Orphanet,ORPHA:46532,Disorder,Disease,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,HPFH-beta-thalassemia syndrome +GARD:0018643,Orphanet,ORPHA:88616,Subtype of disorder,Etiological subtype,Autosomal recessive non-syndromic intellectual disability,AR-NSID|NS-ARID +GARD:0018644,Orphanet,ORPHA:90636,Subtype of disorder,Etiological subtype,Autosomal recessive non-syndromic sensorineural deafness type DFNB,Autosomal recessive isolated neurosensory deafness type DFNB|Autosomal recessive isolated neurosensory hearing loss type DFNB|Autosomal recessive isolated sensorineural deafness type DFNB|Autosomal recessive isolated sensorineural hearing loss type DFNB|Autosomal recessive non-syndromic neurosensory deafness type DFNB|Autosomal recessive non-syndromic neurosensory hearing loss type DFNB|Autosomal recessive non-syndromic sensorineural hearing loss type DFNB +GARD:0018645,Orphanet,ORPHA:93592,Subtype of disorder,Clinical subtype,Juvenile nephronophthisis, +GARD:0018646,Orphanet,ORPHA:137634,Disorder,Malformation syndrome,Overgrowth-macrocephaly-facial dysmorphism syndrome, +GARD:0018647,Orphanet,ORPHA:168615,Disorder,Biological anomaly,Hereditary persistence of alpha-fetoprotein, +GARD:0018648,Orphanet,ORPHA:251380,Disorder,Disease,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,HPFH-sickle cell disease syndrome +GARD:0018649,Orphanet,ORPHA:254913,Disorder,Disease,Isolated ATP synthase deficiency,Isolated mitochondrial respiratory chain complex V deficiency +GARD:0018650,Orphanet,ORPHA:280654,Disorder,Disease,Autosomal recessive nail dysplasia, +GARD:0018651,Orphanet,ORPHA:363989,Disorder,Disease,Familial benign flecked retina, +GARD:0018652,Orphanet,ORPHA:440713,Disorder,Disease,Isolated sedoheptulokinase deficiency,Isolated SHPK deficiency +GARD:0018653,Orphanet,ORPHA:443950,Disorder,Disease,DNAJB2-related Charcot-Marie-Tooth disease type 2,DNAJB2-related CMT2 +GARD:0018654,Orphanet,ORPHA:444069,Disorder,Malformation syndrome,Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome, +GARD:0018655,Orphanet,ORPHA:572773,Subtype of disorder,Clinical subtype,Microcephaly-short stature-limb abnormalities syndrome,MISSLA +GARD:0018656,Orphanet+OMIM,OMIM:141749,Subtype of disorder,Disease subtype,Fetal hemoglobin quantitative trait locus 1,"hereditary persistence of fetal hemoglobin, hb gene cluster-related|Hemoglobin f, hereditary persistence of" +GARD:0018657,Orphanet+OMIM,OMIM:142470,Subtype of disorder,Disease subtype,Fetal hemoglobin quantitative trait locus 2, +GARD:0018658,Orphanet+OMIM,OMIM:305435,Subtype of disorder,Disease subtype,Fetal hemoglobin quantitative trait locus 3, +GARD:0018659,Orphanet+OMIM,OMIM:604233,Subtype of disorder,Disease subtype,"Generalized epilepsy with febrile seizures plus, type 1","Gefs+, type 1" +GARD:0018660,Orphanet+OMIM,OMIM:604273,Subtype of disorder,Disease subtype,"Mitochondrial complex v (atp synthase) deficiency, nuclear type 1","Mitochondrial complex v (atp synthase) deficiency, atpaf2 type" +GARD:0018661,Orphanet+OMIM,OMIM:604403,Subtype of disorder,Disease subtype,"Generalized epilepsy with febrile seizures plus, type 2","Gefs+, type 2" +GARD:0018662,Orphanet+OMIM,OMIM:609800,Subtype of disorder,Disease subtype,"Generalized epilepsy with febrile seizures plus, type 4", +GARD:0018663,Orphanet+OMIM,OMIM:612279,Subtype of disorder,Disease subtype,"Generalized epilepsy with febrile seizures plus, type 6", +GARD:0018664,Orphanet+OMIM,OMIM:613828,Subtype of disorder,Disease subtype,"Generalized epilepsy with febrile seizures plus, type 8", +GARD:0018665,Orphanet+OMIM,OMIM:613863,Subtype of disorder,Disease subtype,"Generalized epilepsy with febrile seizures plus, type 7", +GARD:0018666,Orphanet+OMIM,OMIM:614053,Subtype of disorder,Disease subtype,"Mitochondrial complex v (atp synthase) deficiency, nuclear type 3","Mitochondrial complex v (atp synthase) deficiency, atp5e type" +GARD:0018667,Orphanet+OMIM,OMIM:615228,Subtype of disorder,Disease subtype,"Mitochondrial complex v (atp synthase) deficiency, nuclear type 4","Mitochondrial complex v (atp synthase) deficiency, atp5a1 type" +GARD:0018668,Orphanet+OMIM,OMIM:616172,Subtype of disorder,Disease subtype,"Generalized epilepsy with febrile seizures plus, type 9","Gefs+, type 9" +GARD:0018669,Orphanet+OMIM,OMIM:617756,Subtype of disorder,Disease subtype,Erythrokeratodermia variabilis et progressiva 5, +GARD:0018670,Orphanet+OMIM,OMIM:618120,Subtype of disorder,Disease subtype,"Mitochondrial complex v (atp synthase) deficiency, nuclear type 5","Mitochondrial complex v (atp synthase) deficiency, atp5f1d type" +GARD:0018671,Orphanet+OMIM,OMIM:618482,Subtype of disorder,Disease subtype,"Generalized epilepsy with febrile seizures plus, type 10","Gefs+, type 10" +GARD:0018672,Orphanet+OMIM,OMIM:618531,Subtype of disorder,Disease subtype,Erythrokeratodermia variabilis et progressiva 6, +GARD:0018673,Orphanet+OMIM,OMIM:618683,Subtype of disorder,Disease subtype,"Mitochondrial complex v (atp synthase) deficiency, nuclear type 6", +GARD:0018674,Orphanet+OMIM,OMIM:619209,Subtype of disorder,Disease subtype,Erythrokeratodermia variabilis et progressiva 7, +GARD:0018675,Orphanet,ORPHA:67,Disorder,Disease,Amoebiasis due to Entamoeba histolytica, +GARD:0018676,Orphanet,ORPHA:69,Group of disorders,Category,Amyloidosis, +GARD:0018677,Orphanet,ORPHA:92,Group of disorders,Clinical group,Juvenile idiopathic arthritis,Juvenile chronic arthritis|Juvenile rheumatoid arthritis +GARD:0018678,Orphanet,ORPHA:105,Disorder,Morphological anomaly,Atresia of urethra,Urethral atresia +GARD:0018679,Orphanet,ORPHA:176,Group of disorders,Clinical group,Non-rhizomelic chondrodysplasia punctata, +GARD:0018680,Orphanet,ORPHA:185,Disorder,Malformation syndrome,Scimitar syndrome,Congenital pulmonary venolobar syndrome|Epibronchial right pulmonary vein syndrome|Halasz syndrome|Hypogenetic lung syndrome +GARD:0018681,Orphanet,ORPHA:200,Disorder,Morphological anomaly,Isolated corpus callosum agenesis, +GARD:0018682,Orphanet,ORPHA:224,Group of disorders,Category,Neonatal diabetes mellitus,NDM +GARD:0018683,Orphanet,ORPHA:236,Disorder,Malformation syndrome,Trisomy 9p,Duplication 9p|Duplication of the short arm of chromosome 9|Trisomy of the short arm of chromosome 9 +GARD:0018684,Orphanet,ORPHA:238,Disorder,Morphological anomaly,Digestive duplication, +GARD:0018685,Orphanet,ORPHA:254,Group of disorders,Clinical group,Spondylometaphyseal dysplasia, +GARD:0018686,Orphanet,ORPHA:262,Group of disorders,Clinical group,Duchenne and Becker muscular dystrophy,"Severe dystrophinopathy, Duchenne and Becker type" +GARD:0018687,Orphanet,ORPHA:293,Disorder,Disease,Congenital herpes simplex virus infection,Antenatal herpes simplex virus infection|Mother-to-child transmission of herpes simplex virus infection +GARD:0018688,Orphanet,ORPHA:310,Group of disorders,Clinical group,Reflex epilepsy, +GARD:0018689,Orphanet,ORPHA:340,Disorder,Disease,Hemorrhagic fever-renal syndrome,Hantavirosis|Hantavirus fever +GARD:0018690,Orphanet,ORPHA:344,Group of disorders,Category,Arbovirus fever, +GARD:0018691,Orphanet,ORPHA:370,Group of disorders,Clinical group,Glycogen storage disease due to phosphorylase kinase deficiency,GSD due to phosphorylase kinase deficiency|GSD type 9|GSD type IX|Glycogen storage disease due to PhK deficiency|Glycogen storage disease type 9|Glycogen storage disease type IX|Glycogenosis due to phosphorylase kinase deficiency|Glycogenosis type 9|Glycogenosis type IX|Gycogenosis due to PhK deficiency +GARD:0018692,Orphanet,ORPHA:390,Disorder,Disease,Histoplasmosis,Darling disease +GARD:0018693,Orphanet,ORPHA:493,Disorder,Disease,Familial keratoacanthoma,Hereditary keratoacanthoma|Multiple keratoacanthoma +GARD:0018694,Orphanet,ORPHA:498,Group of disorders,Clinical group,Keratosis pilaris atrophicans, +GARD:0018695,Orphanet,ORPHA:536,Disorder,Disease,Systemic lupus erythematosus,Disseminated lupus erythematosus|SLE +GARD:0018696,Orphanet,ORPHA:537,Subtype of disorder,Clinical subtype,Toxic epidermal necrolysis,Lyell syndrome +GARD:0018697,Orphanet,ORPHA:541,Group of disorders,Clinical group,Primary cutaneous CD30+ T-cell lymphoproliferative disease,Primary cutaneous Ki-1+ T-cell lymphoproliferative disease +GARD:0018698,Orphanet,ORPHA:542,Group of disorders,Category,Primary cutaneous lymphoma, +GARD:0018699,Orphanet,ORPHA:599,Group of disorders,Category,Distal myopathy,Distal muscular dystrophy +GARD:0018700,Orphanet,ORPHA:617,Disorder,Morphological anomaly,Congenital primary megaureter,Congenital primary megalo-ureter +GARD:0018701,Orphanet,ORPHA:658,Group of disorders,Clinical group,Non-histaminic angioedema,Angioneurotic edema|Bradykinine-induced angioedema|Non histamine-induced angioedema +GARD:0018702,Orphanet,ORPHA:707,Disorder,Disease,Plague,Yersiniosis +GARD:0018703,Orphanet,ORPHA:720,Disorder,Disease,Pili bifurcati, +GARD:0018704,Orphanet,ORPHA:795,Group of disorders,Category,Rare form of salmonellosis, +GARD:0018705,Orphanet,ORPHA:801,Group of disorders,Clinical group,Scleroderma, +GARD:0018706,Orphanet,ORPHA:831,Disorder,Disease,Congenital cervical spinal stenosis,Congenital narrowing of cervical spinal canal|Congenital stenosis of the cervical spine +GARD:0018707,Orphanet,ORPHA:854,Disorder,Clinical syndrome,Primitive portal vein thrombosis,Non-cirrhotic portal vein thrombosis +GARD:0018708,Orphanet,ORPHA:858,Disorder,Disease,Congenital toxoplasmosis,Mother-to-child transmission of toxoplasmosis|Toxoplasma embryofetopathy|Toxoplasma embryopathy +GARD:0018709,Orphanet,ORPHA:874,Disorder,Disease,Primary adult heart tumor,Adult cardiac tumor|Adult heart tumor +GARD:0018710,Orphanet,ORPHA:875,Disorder,Disease,Primary pediatric heart tumor,Cardiac tumor of child|Heart tumor of child +GARD:0018711,Orphanet,ORPHA:883,Disorder,Disease,Extragonadal teratoma, +GARD:0018712,Orphanet,ORPHA:980,Disorder,Morphological anomaly,Absence of the pulmonary artery,Aplasia of pulmonary artery|UAPA|Unilateral Pulmonary Artery Absence|Unilateral pulmonary artery agenesis +GARD:0018713,Orphanet,ORPHA:1006,Disorder,Disease,Alopecia antibody deficiency,Ipp-Gelfand syndrome +GARD:0018714,Orphanet,ORPHA:1047,Group of disorders,Category,Sideroblastic anemia, +GARD:0018715,Orphanet,ORPHA:1084,Disorder,Disease,Isolated lissencephaly type 1 without known genetic defects, +GARD:0018716,Orphanet,ORPHA:1121,Disorder,Malformation syndrome,Radial deficiency-tibial hypoplasia syndrome, +GARD:0018717,Orphanet,ORPHA:1138,Group of disorders,Clinical group,Abnormal origin of the pulmonary artery, +GARD:0018718,Orphanet,ORPHA:1172,Group of disorders,Category,Autosomal recessive cerebellar ataxia,ARCA +GARD:0018719,Orphanet,ORPHA:1349,Disorder,Malformation syndrome,Mitochondrial DNA-related cardiomyopathy and hearing loss,Maternally-inherited cardiomyopathy and deafness|mtDNA-related cardiomyopathy and deafness|mtDNA-related cardiomyopathy and hearing loss|tRNA-LYS-related cardiomyopathy-hearing loss syndrome +GARD:0018720,Orphanet,ORPHA:1398,Disorder,Morphological anomaly,Isolated cerebellar agenesis,Near total absence of cerebellum|Subtotal absence of cerebellum +GARD:0018721,Orphanet,ORPHA:1431,Group of disorders,Clinical group,Paroxysmal dyskinesia,Paroxysmal choreoathetosis|Paroxysmal dystonic choreoathetosis +GARD:0018722,Orphanet,ORPHA:1455,Subtype of disorder,Clinical subtype,Autosomal dominant coarctation of aorta, +GARD:0018723,Orphanet,ORPHA:1456,Subtype of disorder,Clinical subtype,Atypical coarctation of aorta,Coarctation of the abdominal aorta|Mid-aortic dysplastic syndrome|Mid-aortic syndrome|Midaortic syndrome|Middle aortic syndrome +GARD:0018724,Orphanet,ORPHA:1461,Disorder,Morphological anomaly,Criss-cross heart,Criss-cross atrioventricular relationships|Superoinferior ventricles|Twisted atrioventricular connections +GARD:0018725,Orphanet,ORPHA:1464,Disorder,Morphological anomaly,Univentricular heart,Double inlet atrioventricular connection +GARD:0018726,Orphanet,ORPHA:1505,Group of disorders,Clinical group,Short rib-polydactyly syndrome, +GARD:0018727,Orphanet,ORPHA:1506,Disorder,Malformation syndrome,Thin ribs-tubular bones-dysmorphism syndrome,Sharma-Kapoor-Ramji syndrome +GARD:0018728,Orphanet,ORPHA:1544,Disorder,Disease,Benign focal seizures of adolescence,Adolescent benign focal crisis +GARD:0018729,Orphanet,ORPHA:1581,Disorder,Malformation syndrome,Non-distal monosomy 10q,Non-distal deletion 10q|Non-telomeric monosomy 10q +GARD:0018730,Orphanet,ORPHA:1627,Disorder,Malformation syndrome,Deletion 5q35,Del (5)(q35)|Del (5)(qter)|Distal 5q deletion|Monosomy 5q35|Telomeric deletion 5q +GARD:0018731,Orphanet,ORPHA:1636,Disorder,Malformation syndrome,Distal monosomy 7q36,Distal deletion 7q36|Monosomy 7qter|Telomeric deletion 7q36 +GARD:0018732,Orphanet,ORPHA:1642,Disorder,Malformation syndrome,Distal monosomy 9p,Distal deletion 9p|Monosomy 9pter|Telomeric deletion 9p +GARD:0018733,Orphanet,ORPHA:1643,Disorder,Malformation syndrome,Xp22.3 microdeletion syndrome,Del(X)(p23) +GARD:0018734,Orphanet,ORPHA:1665,Disorder,Malformation syndrome,Sporadic fetal brain disruption sequence, +GARD:0018735,Orphanet,ORPHA:1677,Disorder,Morphological anomaly,Familial idiopathic dilatation of the right atrium, +GARD:0018736,Orphanet,ORPHA:1692,Disorder,Malformation syndrome,Mosaic trisomy 1,Mosaic trisomy chromosome 1|Trisomy 1 mosaicism +GARD:0018737,Orphanet,ORPHA:1695,Disorder,Malformation syndrome,Non-distal trisomy 10q,Non-distal duplication 10q|Non-telomeric trisomy 10q +GARD:0018738,Orphanet,ORPHA:1702,Disorder,Malformation syndrome,Non-distal trisomy 13q,Non-distal duplication 13q|Non-telomeric trisomy 13q +GARD:0018739,Orphanet,ORPHA:1705,Disorder,Malformation syndrome,Distal trisomy 14q,Distal duplication 14q|Telomeric duplication 14q|Trisomy 14qter +GARD:0018740,Orphanet,ORPHA:1707,Subtype of disorder,Etiological subtype,Distal trisomy 15q,Distal duplication 15q|Telomeric duplication 15q|Trisomy 15qter +GARD:0018741,Orphanet,ORPHA:1708,Disorder,Malformation syndrome,Mosaic trisomy 16,Mosaic trisomy chromosome 16|Trisomy 16 mosaicism +GARD:0018742,Orphanet,ORPHA:1716,Disorder,Malformation syndrome,Distal trisomy 18q,Distal duplication 18q|Telomeric duplication 18q|Trisomy 18qter +GARD:0018743,Orphanet,ORPHA:1717,Disorder,Malformation syndrome,Distal trisomy 19q,Distal duplication 19q|Telomeric duplication 19q|Trisomy 19qter +GARD:0018744,Orphanet,ORPHA:1724,Disorder,Malformation syndrome,Mosaic trisomy 20,Mosaic trisomy chromosome 20|Trisomy 20 mosaicism +GARD:0018745,Orphanet,ORPHA:1745,Disorder,Malformation syndrome,Distal trisomy 6p,Distal duplication 6p|Telomeric duplication 6p|Trisomy 6pter +GARD:0018746,Orphanet,ORPHA:1757,Disorder,Malformation syndrome,Fibular dimelia-diplopodia syndrome,Leg duplication-mirror foot syndrome +GARD:0018747,Orphanet,ORPHA:1772,Disorder,Malformation syndrome,"45,X/46,XY mixed gonadal dysgenesis","45,X/46,XY MGD|45,X0/46,XY MGD|45,X0/46,XY mixed gonadal dysgenesis" +GARD:0018748,Orphanet,ORPHA:1851,Disorder,Morphological anomaly,Multicystic dysplastic kidney,MCDK|Multicystic renal dysplasia +GARD:0018749,Orphanet,ORPHA:1866,Group of disorders,Category,"Focal, segmental or multifocal dystonia", +GARD:0018750,Orphanet,ORPHA:1913,Disorder,Malformation syndrome,Fetal trimethadione syndrome, +GARD:0018751,Orphanet,ORPHA:1920,Disorder,Malformation syndrome,Toluene embryopathy, +GARD:0018752,Orphanet,ORPHA:1929,Disorder,Disease,Rasmussen subacute encephalitis,Rasmussen syndrome +GARD:0018753,Orphanet,ORPHA:1931,Subtype of disorder,Clinical subtype,Frontal encephalocele,Anterior encephalocele +GARD:0018754,Orphanet,ORPHA:1991,Group of disorders,Clinical group,Cleft lip with or without cleft palate,"Tessier cleft number 1,2" +GARD:0018755,Orphanet,ORPHA:2003,Disorder,Malformation syndrome,Cleft lip/palate-deafness-sacral lipoma syndrome,Cleft lip/palate-hearing loss-sacral lipoma syndrome|Lowry-Yong syndrome +GARD:0018756,Orphanet,ORPHA:2006,Disorder,Morphological anomaly,Median cleft lip/mandibule,Median cleft lower facial stage +GARD:0018757,Orphanet,ORPHA:2034,Group of disorders,Category,Filariasis, +GARD:0018758,Orphanet,ORPHA:2039,Disorder,Morphological anomaly,Congenital systemic arteriovenous fistula, +GARD:0018759,Orphanet,ORPHA:2062,Disorder,Malformation syndrome,Progressive non-infectious anterior vertebral fusion,Copenhagen syndrome +GARD:0018760,Orphanet,ORPHA:2104,Disorder,Malformation syndrome,Dysmorphism-pectus carinatum-joint laxity syndrome,Guízar Vázquez-Sánchez-Manzano syndrome +GARD:0018761,Orphanet,ORPHA:2130,Group of disorders,Clinical group,Hemimelia,Longitudinal meromelia +GARD:0018762,Orphanet,ORPHA:2145,Disorder,Malformation syndrome,"Craniosynostosis, Herrmann-Opitz type", +GARD:0018763,Orphanet,ORPHA:2266,Disorder,Disease,"Hypotrichosis-intellectual disability, Lopes type",Lopes-Marques de Faria syndrome +GARD:0018764,Orphanet,ORPHA:2282,Disorder,Malformation syndrome,Dysmorphism-short stature-deafness-disorder of sex development syndrome,Dysmorphism-short stature-hearing loss-disorder of sex development syndrome|Ieshima-Koeda-Inagaki syndrome +GARD:0018765,Orphanet,ORPHA:2305,Disorder,Malformation syndrome,Isotretinoin syndrome,Isotretinoin embryopathy|Retinoic acid embryopathy|Retinoids embryopathy +GARD:0018766,Orphanet,ORPHA:2325,Disorder,Malformation syndrome,Epidermolysis bullosa simplex with anodontia/hypodontia,EBS with anodontia/hypodontia|Kallin syndrome +GARD:0018767,Orphanet,ORPHA:2326,Disorder,Malformation syndrome,Kallmann syndrome-heart disease syndrome, +GARD:0018768,Orphanet,ORPHA:2338,Group of disorders,Clinical group,Isolated punctate palmoplantar keratoderma,Isolated punctate PPK|Isolated punctate palmoplantar hyperkeratosis +GARD:0018769,Orphanet,ORPHA:2416,Group of disorders,Clinical group,Congenital primary lymphedema without systemic or visceral involvement, +GARD:0018770,Orphanet,ORPHA:2420,Disorder,Disease,Primary pulmonary lymphoma, +GARD:0018771,Orphanet,ORPHA:2443,Group of disorders,Category,Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies,Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies|OXPHOS disease due to nDNA anomalies|OXPHOS disease due to nuclear DNA anomalies +GARD:0018772,Orphanet,ORPHA:2444,Disorder,Malformation syndrome,Congenital pulmonary airway malformation,CCAM|CPAM|Congenital cystic adenomatoid malformation of the lung|Congenital cystic adenomatous malformation of the lung|Congenital cystic disease of the lung +GARD:0018773,Orphanet,ORPHA:2487,Disorder,Malformation syndrome,Lower limb malformation-hypospadias syndrome,Fried-Goldberg-Mundel syndrome +GARD:0018774,Orphanet,ORPHA:2519,Disorder,Malformation syndrome,Microcephaly-seizures-intellectual disability-heart disease syndrome, +GARD:0018775,Orphanet,ORPHA:2582,Disorder,Malformation syndrome,Myalgia-eosinophilia syndrome associated with tryptophan, +GARD:0018776,Orphanet,ORPHA:2653,Disorder,Malformation syndrome,Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome,Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome|Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome|Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome +GARD:0018777,Orphanet,ORPHA:2666,Disorder,Disease,Adult familial nephronophthisis-spastic quadriparesia syndrome, +GARD:0018778,Orphanet,ORPHA:2787,Disorder,Malformation syndrome,Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome,Heide syndrome +GARD:0018779,Orphanet,ORPHA:2846,Group of disorders,Category,Congenital pericardium anomaly, +GARD:0018780,Orphanet,ORPHA:2847,Disorder,Malformation syndrome,Pericardial and diaphragmatic defect, +GARD:0018781,Orphanet,ORPHA:2907,Disorder,Disease,Hereditary acrokeratotic poikiloderma,Weary syndrome +GARD:0018782,Orphanet,ORPHA:2973,Disorder,Malformation syndrome,"46,XX disorder of sex development-anorectal anomalies syndrome", +GARD:0018783,Orphanet,ORPHA:2982,Group of disorders,Category,"46,XX disorder of sex development","46,XX DSD" +GARD:0018784,Orphanet,ORPHA:3004,Disorder,Malformation syndrome,Mirror polydactyly-vertebral segmentation-limbs defects syndrome, +GARD:0018785,Orphanet,ORPHA:3091,Group of disorders,Category,Congenital systemic veins anomaly, +GARD:0018786,Orphanet,ORPHA:3093,Disorder,Morphological anomaly,Congenital aortic valve stenosis, +GARD:0018787,Orphanet,ORPHA:3151,Disorder,Disease,Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome, +GARD:0018788,Orphanet,ORPHA:3225,Disorder,Malformation syndrome,Hearing loss-familial salivary gland insensitivity to aldosterone syndrome,Tungland-Bellman syndrome +GARD:0018789,Orphanet,ORPHA:3240,Disorder,Disease,Central nervous system calcification-deafness-tubular acidosis-anemia syndrome,Central nervous system calcification-hearing loss-tubular acidosis-anemia syndrome|Yoshimura-Takeshita syndrome +GARD:0018790,Orphanet,ORPHA:3276,Group of disorders,Category,Disorder of plasmalogens biosynthesis, +GARD:0018791,Orphanet,ORPHA:3293,Disorder,Malformation syndrome,Telecanthus-hypertelorism-strabismus-pes cavus syndrome, +GARD:0018792,Orphanet,ORPHA:3309,Disorder,Malformation syndrome,Tetrasomy 5p,Isochromosome 5p +GARD:0018793,Orphanet,ORPHA:3343,Disorder,Disease,Toxocariasis, +GARD:0018794,Orphanet,ORPHA:3379,Disorder,Malformation syndrome,Distal trisomy 17q,Distal duplication 17q|Telomeric duplication 17q|Trisomy 17qter +GARD:0018795,Orphanet,ORPHA:3386,Disorder,Disease,American trypanosomiasis,Chagas disease +GARD:0018796,Orphanet,ORPHA:3388,Group of disorders,Category,Neural tube defect, +GARD:0018797,Orphanet,ORPHA:3399,Group of disorders,Category,Germ cell tumor, +GARD:0018798,Orphanet,ORPHA:3400,Disorder,Morphological anomaly,Aorto-ventricular tunnel, +GARD:0018799,Orphanet,ORPHA:26349,Disorder,Disease,Protein S acquired deficiency, +GARD:0018800,Orphanet,ORPHA:31142,Disorder,Disease,Oral erosive lichen, +GARD:0018801,Orphanet,ORPHA:31153,Group of disorders,Clinical group,Hypoalphalipoproteinemia, +GARD:0018802,Orphanet,ORPHA:31154,Group of disorders,Clinical group,Hypobetalipoproteinemia, +GARD:0018803,Orphanet,ORPHA:31824,Disorder,Particular clinical situation in a disease or syndrome,Colchicine poisoning, +GARD:0018804,Orphanet,ORPHA:31825,Disorder,Disease,Methanol poisoning, +GARD:0018805,Orphanet,ORPHA:31826,Disorder,Disease,Ethylene glycol poisoning, +GARD:0018806,Orphanet,ORPHA:31827,Disorder,Disease,Paraquat poisoning, +GARD:0018807,Orphanet,ORPHA:31828,Disorder,Particular clinical situation in a disease or syndrome,Digitalis poisoning, +GARD:0018808,Orphanet,ORPHA:33408,Disorder,Disease,Bullous lichen planus, +GARD:0018809,Orphanet,ORPHA:33475,Disorder,Disease,Meningococcal meningitis, +GARD:0018810,Orphanet,ORPHA:34533,Group of disorders,Category,Corneal dystrophy, +GARD:0018811,Orphanet,ORPHA:35062,Disorder,Disease,Severe disseminated cytomegalovirus infection in immunocompetent patients,Severe disseminated CMV infection in immunocompetent patients +GARD:0018812,Orphanet,ORPHA:35063,Disorder,Disease,Fulminant viral hepatitis, +GARD:0018813,Orphanet,ORPHA:35125,Disorder,Disease,Epidermal nevus syndrome,Epidermal hamartoma syndrome +GARD:0018814,Orphanet,ORPHA:35696,Group of disorders,Category,Mitochondrial disorder due to a defect in mitochondrial protein synthesis,COXPD|Combined OXPHOS defect|Combined OXPHOS deficiency|Combined oxidative phosphorylation defect +GARD:0018815,Orphanet,ORPHA:35705,Group of disorders,Category,Neurometabolic disorder due to serine deficiency,Serine deficiency +GARD:0018816,Orphanet,ORPHA:35808,Group of disorders,Category,Malignant sex cord stromal tumor of ovary,Malignant ovarian SCST|Malignant ovarian sex cord-stromal tumor +GARD:0018817,Orphanet,ORPHA:35889,Disorder,Disease,Acute opioid poisoning, +GARD:0018818,Orphanet,ORPHA:35981,Group of disorders,Clinical group,Polymicrogyria, +GARD:0018819,Orphanet,ORPHA:36235,Disorder,Disease,Staphylococcal scarlet fever, +GARD:0018820,Orphanet,ORPHA:36237,Disorder,Disease,Bullous impetigo, +GARD:0018821,Orphanet,ORPHA:36238,Disorder,Disease,Staphylococcal necrotizing pneumonia, +GARD:0018822,Orphanet,ORPHA:36273,Disorder,Disease,Gastric linitis plastica,Borrmann gastric cancer type 4|Linitis plastica of the stomach +GARD:0018823,Orphanet,ORPHA:36382,Disorder,Disease,Familial cervical artery dissection,Familial CAD|Hereditary CAD|Hereditary cervical artery dissection +GARD:0018824,Orphanet,ORPHA:36913,Disorder,Disease,Autoimmune hypoparathyroidism, +GARD:0018825,Orphanet,ORPHA:37202,Disorder,Disease,Interstitial cystitis,Bladder pain syndrome|IC/BPS|IC/PBS|Interstitial cystitis/bladder pain syndrome|Interstitial cystitis/painful bladder syndrome|Painful bladder syndrome +GARD:0018826,Orphanet,ORPHA:37559,Disorder,Disease,Acquired kinky hair syndrome, +GARD:0018827,Orphanet,ORPHA:40366,Disorder,Malformation syndrome,Acitretin/etretinate embryopathy,Fetal acitretin/etretinate syndrome|Retinoid embryopathy +GARD:0018828,Orphanet,ORPHA:43116,Disorder,Disease,Serotonin syndrome,Serotonergic syndrome|Serotonin storm|Serotonin toxicity|Serotonin toxidrome +GARD:0018829,Orphanet,ORPHA:43117,Disorder,Particular clinical situation in a disease or syndrome,Acute tricyclic antidepressant poisoning, +GARD:0018830,Orphanet,ORPHA:43119,Disorder,Particular clinical situation in a disease or syndrome,Acute poisoning by drugs with membrane-stabilizing effect, +GARD:0018831,Orphanet,ORPHA:45452,Disorder,Disease,Idiopathic neonatal atrial flutter, +GARD:0018832,Orphanet,ORPHA:45453,Disorder,Disease,Incessant infant ventricular tachycardia, +GARD:0018833,Orphanet,ORPHA:46485,Group of disorders,Clinical group,Superficial pemphigus, +GARD:0018834,Orphanet,ORPHA:46488,Disorder,Disease,Linear IgA dermatosis, +GARD:0018835,Orphanet,ORPHA:48435,Disorder,Disease,Postinfectious vasculitis, +GARD:0018836,Orphanet,ORPHA:48736,Subtype of disorder,Clinical subtype,Embryonal carcinoma of the central nervous system,Embryonal carcinoma of the CNS +GARD:0018837,Orphanet,ORPHA:48918,Disorder,Disease,Focal myositis,Focal nodular myositis|Inflammatory pseudotumor of skeletal muscle +GARD:0018838,Orphanet,ORPHA:49566,Disorder,Disease,Acquired purpura fulminans, +GARD:0018839,Orphanet,ORPHA:49804,Disorder,Disease,Lichen amyloidosis,Amyloid lichen|Lichen amyloidosus +GARD:0018840,Orphanet,ORPHA:50810,Disorder,Malformation syndrome,Microlissencephaly-micromelia syndrome,Basel-Vanagaite-Sirota syndrome +GARD:0018841,Orphanet,ORPHA:50812,Disorder,Disease,Zellweger-like syndrome without peroxisomal anomalies,Ahn-Lerman-Sagie syndrome +GARD:0018842,Orphanet,ORPHA:50817,Disorder,Disease,Duane anomaly-myopathy-scoliosis syndrome,Verloes-Deprez syndrome +GARD:0018843,Orphanet,ORPHA:51890,Disorder,Disease,Anterior cutaneous nerve entrapment syndrome,ACNES|Intercostal nerve syndrome|Rectus abdominis syndrome +GARD:0018844,Orphanet,ORPHA:52759,Group of disorders,Category,Vasculitis,Systemic vasculitis +GARD:0018845,Orphanet,ORPHA:52994,Disorder,Disease,Orbital leiomyoma, +GARD:0018846,Orphanet,ORPHA:54247,Disorder,Disease,Posterior cortical atrophy,Benson syndrome|Biparietal Alzheimer disease|PCA +GARD:0018847,Orphanet,ORPHA:54272,Disorder,Disease,Hepatocellular adenoma, +GARD:0018848,Orphanet,ORPHA:54368,Disorder,Disease,Sarcocystosis,Sarcosporidiosis +GARD:0018849,Orphanet,ORPHA:55655,Disorder,Disease,Pneumococcal meningitis, +GARD:0018850,Orphanet,ORPHA:56044,Group of disorders,Clinical group,Carcinoma of gallbladder and extrahepatic biliary tract,Carcinoma of gallbladder and EBT +GARD:0018851,Orphanet,ORPHA:56970,Group of disorders,Category,Human prion disease,TSE|Transmissible spongiform encephalopathy +GARD:0018852,Orphanet,ORPHA:57777,Disorder,Disease,Cirrhotic cardiomyopathy, +GARD:0018853,Orphanet,ORPHA:57782,Disorder,Malformation syndrome,Mazabraud syndrome,Myxoma with fibrous dysplasia +GARD:0018854,Orphanet,ORPHA:58040,Disorder,Disease,Osteoblastoma, +GARD:0018855,Orphanet,ORPHA:59315,Disorder,Malformation syndrome,Rhombencephalosynapsis, +GARD:0018856,Orphanet,ORPHA:60014,Disorder,Disease,Argyria,Silver staining +GARD:0018857,Orphanet,ORPHA:63443,Group of disorders,Category,Rare epithelial tumor of stomach,Rare gastric epithelial tumor +GARD:0018858,Orphanet,ORPHA:63455,Disorder,Disease,Paraneoplastic pemphigus, +GARD:0018859,Orphanet,ORPHA:64542,Disorder,Malformation syndrome,"Acrofacial dysostosis, Kennedy-Teebi type",Kennedy-Teebi syndrome +GARD:0018860,Orphanet,ORPHA:64545,Disorder,Disease,Benign idiopathic neonatal seizures,BINS|Benign nonfamilial neonatal seizures +GARD:0018861,Orphanet,ORPHA:64692,Disorder,Disease,Oroya fever,Bartonellosis due to Bartonella bacilliformis infection|Carrion disease +GARD:0018862,Orphanet,ORPHA:64694,Disorder,Disease,Trench fever,Bartonellosis due to Bartonella quintana infection +GARD:0018863,Orphanet,ORPHA:64722,Disorder,Disease,Granulomatous mastitis,Idiopathic granulomatous mastitis +GARD:0018864,Orphanet,ORPHA:64741,Disorder,Disease,Pulmonary blastoma,Pneumoblastoma +GARD:0018865,Orphanet,ORPHA:64743,Subtype of disorder,Histopathological subtype,Hepatoportal sclerosis,Obliterative portal venopathy +GARD:0018866,Orphanet,ORPHA:64744,Subtype of disorder,Clinical subtype,IgG4-related thyroid disease,Riedel disease|Riedel thyroiditis +GARD:0018867,Orphanet,ORPHA:65681,Disorder,Morphological anomaly,Vaginal atresia, +GARD:0018868,Orphanet,ORPHA:66518,Disorder,Disease,Short fifth metacarpals-insulin resistance syndrome, +GARD:0018869,Orphanet,ORPHA:66633,Disorder,Disease,Sensorineural hearing loss-early graying-essential tremor syndrome,Sensorineural deafness-early graying-essential tremor syndrome +GARD:0018870,Orphanet,ORPHA:66661,Disorder,Disease,Mast cell sarcoma, +GARD:0018871,Orphanet,ORPHA:66662,Disorder,Disease,Extracutaneous mastocytoma, +GARD:0018872,Orphanet,ORPHA:67039,Disorder,Disease,Segmental odontomaxillary dysplasia, +GARD:0018873,Orphanet,ORPHA:68334,Group of disorders,Category,Rare hemorrhagic disorder due to a constitutional coagulation factors defect,Rare bleeding disorder due to a constitutional coagulation factors defect|Rare coagulopathy due to a constitutional coagulation factors defect +GARD:0018874,Orphanet,ORPHA:68335,Group of disorders,Category,Rare chromosomal anomaly, +GARD:0018875,Orphanet,ORPHA:68336,Group of disorders,Category,Rare genetic tumor, +GARD:0018876,Orphanet,ORPHA:68341,Group of disorders,Category,Multiple congenital anomalies/dysmorphic syndrome, +GARD:0018877,Orphanet,ORPHA:68346,Group of disorders,Category,Rare genetic skin disease,Rare genodermatosis +GARD:0018878,Orphanet,ORPHA:68347,Group of disorders,Category,Tumor of hematopoietic and lymphoid tissues, +GARD:0018879,Orphanet,ORPHA:68354,Group of disorders,Category,Rare sleep disorder, +GARD:0018880,Orphanet,ORPHA:68361,Group of disorders,Category,Rare deafness,Rare hearing loss +GARD:0018881,Orphanet,ORPHA:68362,Group of disorders,Category,Rare vascular disease, +GARD:0018882,Orphanet,ORPHA:68363,Group of disorders,Category,Rare dystonia,Rare dystonic disorder +GARD:0018883,Orphanet,ORPHA:68364,Group of disorders,Category,Hemoglobinopathy, +GARD:0018884,Orphanet,ORPHA:68366,Group of disorders,Category,Lysosomal disease, +GARD:0018885,Orphanet,ORPHA:68373,Group of disorders,Category,Peroxisomal disease, +GARD:0018886,Orphanet,ORPHA:68378,Group of disorders,Category,Congenital limb malformation, +GARD:0018887,Orphanet,ORPHA:68380,Group of disorders,Category,Mitochondrial disease, +GARD:0018888,Orphanet,ORPHA:68381,Group of disorders,Category,Neuromuscular disease, +GARD:0018889,Orphanet,ORPHA:68383,Group of disorders,Category,Rare constitutional aplastic anemia, +GARD:0018890,Orphanet,ORPHA:68385,Group of disorders,Category,Neurometabolic disease, +GARD:0018891,Orphanet,ORPHA:68402,Group of disorders,Category,Rare parkinsonian disorder,Rare hypokinetic movement disorder +GARD:0018892,Orphanet,ORPHA:68411,Group of disorders,Category,Rare bone tumor, +GARD:0018893,Orphanet,ORPHA:68415,Group of disorders,Category,Rare parathyroid disease and phosphocalcic metabolism anomaly, +GARD:0018894,Orphanet,ORPHA:68419,Group of disorders,Category,Vascular anomaly or angioma, +GARD:0018895,Orphanet,ORPHA:69028,Group of disorders,Category,Dysostosis with brachydactyly, +GARD:0018896,Orphanet,ORPHA:69063,Disorder,Disease,Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,Alloimmune neonatal renal disease|FMAIG|Fetomaternal alloimmunization with antenatal glomerulopathies|Neonatal glomerulopathy due to neprilysin alloimmunization|Neonatal membranous glomerulopathy with maternal NEP deficiency|Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency +GARD:0018897,Orphanet,ORPHA:69736,Disorder,Disease,Bilateral acute depigmentation of the iris,BADI +GARD:0018898,Orphanet,ORPHA:69744,Disorder,Disease,Circumscribed palmoplantar hypokeratosis, +GARD:0018899,Orphanet,ORPHA:69745,Disorder,Disease,Warty dyskeratoma,Follicular dyskeratoma +GARD:0018900,Orphanet,ORPHA:70475,Disorder,Disease,Radiation proctitis, +GARD:0018901,Orphanet,ORPHA:99977,Disorder,Disease,Squamous cell carcinoma of the esophagus,ESCC|Esophageal epidermoid carcinoma|Esophageal squamous cell carcinoma +GARD:0018902,Orphanet,ORPHA:70578,Disorder,Disease,Adult acute respiratory distress syndrome,Adult ARDS +GARD:0018903,Orphanet,ORPHA:70596,Disorder,Disease,Congenital Epstein-Barr virus infection,Antenatal EBV infection|Antenatal Epstein-Barr virus infection|Congenital EBV infection|Mother-to-child transmission of Epstein-Barr virus infection +GARD:0018904,Orphanet,ORPHA:71198,Group of disorders,Category,Rare pulmonary hypertension, +GARD:0018905,Orphanet,ORPHA:71202,Group of disorders,Category,Rare hemorrhagic disorder due to a constitutional platelet anomaly,Rare bleeding disorder due to a constitutional platelet anomaly|Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia|Rare coagulopathy due to a constitutional platelet anomaly|Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia|Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia +GARD:0018906,Orphanet,ORPHA:71203,Group of disorders,Clinical group,Autoimmune thrombocytopenia, +GARD:0018907,Orphanet,ORPHA:71209,Group of disorders,Category,Rare soft tissue tumor,Rare mesenchymal tumor +GARD:0018908,Orphanet,ORPHA:71213,Disorder,Disease,Retinal capillary malformation, +GARD:0018909,Orphanet,ORPHA:71267,Disorder,Malformation syndrome,Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome,Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome +GARD:0018910,Orphanet,ORPHA:71276,Disorder,Disease,Silent sinus syndrome,Imploding antrum syndrome +GARD:0018911,Orphanet,ORPHA:71281,Group of disorders,Category,Rare central nervous system and retinal vascular disease, +GARD:0018912,Orphanet,ORPHA:71505,Disorder,Disease,Cancer-associated retinopathy,CAR syndrome|Paraneoplastic retinopathy +GARD:0018913,Orphanet,ORPHA:71518,Disorder,Disease,Benign paroxysmal torticollis of infancy, +GARD:0018914,Orphanet,ORPHA:71519,Disorder,Clinical syndrome,Psychogenic movement disorders,Psychogenic dystonia +GARD:0018915,Orphanet,ORPHA:71859,Group of disorders,Category,Rare genetic neurological disorder, +GARD:0018916,Orphanet,ORPHA:71862,Group of disorders,Category,Inherited retinal disorder,Retinal dystrophy +GARD:0018917,Orphanet,ORPHA:71864,Group of disorders,Category,Muscular channelopathy, +GARD:0018918,Orphanet,ORPHA:73014,Group of disorders,Category,Intractable diarrhea of infancy,IDI +GARD:0018919,Orphanet,ORPHA:73223,Disorder,Malformation syndrome,Global developmental delay-osteopenia-ectodermal defect syndrome, +GARD:0018920,Orphanet,ORPHA:73224,Disorder,Disease,Kidney tubulopathy-dilated cardiomyopathy syndrome, +GARD:0018921,Orphanet,ORPHA:73230,Disorder,Disease,Ossification anomalies-psychomotor developmental delay syndrome, +GARD:0018922,Orphanet,ORPHA:73245,Disorder,Malformation syndrome,Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome, +GARD:0018923,Orphanet,ORPHA:73246,Disorder,Malformation syndrome,Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome, +GARD:0018924,Orphanet,ORPHA:75110,Group of disorders,Category,Myiasis, +GARD:0018925,Orphanet,ORPHA:75378,Disorder,Disease,Oligocone trichromacy,Oligocone syndrome +GARD:0018926,Orphanet,ORPHA:75389,Disorder,Malformation syndrome,Brain malformation-congenital heart disease-postaxial polydactyly syndrome,Goossens-Devriendt syndrome +GARD:0018927,Orphanet,ORPHA:75508,Disorder,Malformation syndrome,Angioosteohypotrophic syndrome,Phlebectatic osteohypoplastic angiodysplasia|Servelle-Martorell syndrome +GARD:0018928,Orphanet,ORPHA:75565,Disorder,Disease,Tropical endomyocardial fibrosis,Davies disease|TEMF +GARD:0018929,Orphanet,ORPHA:75566,Disorder,Disease,Loeffler endocarditis,Eosinophilic endocarditis +GARD:0018930,Orphanet,ORPHA:75567,Disorder,Clinical syndrome,Primary progressive freezing gait,PPFG +GARD:0018931,Orphanet,ORPHA:75857,Disorder,Malformation syndrome,6q terminal deletion syndrome, +GARD:0018932,Orphanet,ORPHA:77240,Group of disorders,Category,Primary lymphedema, +GARD:0018933,Orphanet,ORPHA:77300,Disorder,Malformation syndrome,Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome, +GARD:0018934,Orphanet,ORPHA:77301,Disorder,Malformation syndrome,Monosomy 9q22.3,Microdeletion 9q22.3 +GARD:0018935,Orphanet,ORPHA:77828,Group of disorders,Category,Genetic obesity, +GARD:0018936,Orphanet,ORPHA:77830,Group of disorders,Category,Rare genetic odontologic disease, +GARD:0018937,Orphanet,ORPHA:79062,Group of disorders,Category,Disorder of amino acid and other organic acid metabolism, +GARD:0018938,Orphanet,ORPHA:79097,Disorder,Disease,Folinic acid-responsive seizures, +GARD:0018939,Orphanet,ORPHA:79098,Disorder,Disease,Sympathetic ophthalmia,Sympathetic uveitis +GARD:0018940,Orphanet,ORPHA:79099,Disorder,Disease,Interstitial granulomatous dermatitis with arthritis,Ackerman dermatitis syndrome|Ackerman syndrome|IGDA +GARD:0018941,Orphanet,ORPHA:79105,Disorder,Disease,Myxofibrosarcoma,Fibromyxosarcoma|Myxoid malignant fibrous histiocytoma +GARD:0018942,Orphanet,ORPHA:79127,Disorder,Disease,Respiratory bronchiolitis-interstitial lung disease syndrome,RB-ILD +GARD:0018943,Orphanet,ORPHA:79129,Disorder,Malformation syndrome,Trichodysplasia-amelogenesis imperfecta syndrome, +GARD:0018944,Orphanet,ORPHA:79138,Disorder,Disease,Bickerstaff brainstem encephalitis, +GARD:0018945,Orphanet,ORPHA:79158,Group of disorders,Category,Cerebral organic aciduria, +GARD:0018946,Orphanet,ORPHA:79161,Group of disorders,Category,Disorder of carbohydrate metabolism, +GARD:0018947,Orphanet,ORPHA:79163,Group of disorders,Category,Classic organic aciduria, +GARD:0018948,Orphanet,ORPHA:79166,Group of disorders,Category,Disorder of amino acid absorption and transport, +GARD:0018949,Orphanet,ORPHA:79168,Group of disorders,Category,Disorder of bile acid synthesis, +GARD:0018950,Orphanet,ORPHA:79169,Group of disorders,Category,Disorder of neurotransmitter metabolism and transport, +GARD:0018951,Orphanet,ORPHA:79171,Group of disorders,Category,Disorder of cobalamin metabolism and transport, +GARD:0018952,Orphanet,ORPHA:79172,Group of disorders,Clinical group,Creatine deficiency syndrome,CCDS|CDS|Cerebral creatine deficiency syndrome +GARD:0018953,Orphanet,ORPHA:79173,Group of disorders,Category,Disorder of methionine cycle and sulfur amino acid metabolism,Cytosolic methyl group transfer or sulfur amino acid metabolism disorder +GARD:0018954,Orphanet,ORPHA:79174,Group of disorders,Category,Disorder of fatty acid oxidation and ketone body metabolism, +GARD:0018955,Orphanet,ORPHA:79175,Group of disorders,Category,Disorder of gamma-aminobutyric acid metabolism,Disorder of GABA metabolism +GARD:0018956,Orphanet,ORPHA:79177,Group of disorders,Category,Gluconeogenesis disorder, +GARD:0018957,Orphanet,ORPHA:79178,Group of disorders,Category,Glucose transport disorder, +GARD:0018958,Orphanet,ORPHA:79179,Group of disorders,Category,Disorder of glycerol metabolism, +GARD:0018959,Orphanet,ORPHA:79181,Group of disorders,Category,Disorder of histidine metabolism, +GARD:0018960,Orphanet,ORPHA:79183,Group of disorders,Category,Disorder of ketolysis, +GARD:0018961,Orphanet,ORPHA:79185,Group of disorders,Category,Disorder of ornithine or proline metabolism, +GARD:0018962,Orphanet,ORPHA:79186,Group of disorders,Category,Disorder of pentose phosphate metabolism, +GARD:0018963,Orphanet,ORPHA:79187,Group of disorders,Category,Disorder of peptide metabolism, +GARD:0018964,Orphanet,ORPHA:79190,Group of disorders,Category,Disorder of phenylalanin or tyrosine metabolism, +GARD:0018965,Orphanet,ORPHA:79191,Group of disorders,Category,Disorder of purine metabolism, +GARD:0018966,Orphanet,ORPHA:79192,Group of disorders,Category,Disorder of pyridoxine metabolism, +GARD:0018967,Orphanet,ORPHA:79193,Group of disorders,Category,Disorder of pyrimidine metabolism, +GARD:0018968,Orphanet,ORPHA:79194,Group of disorders,Category,Disorder of serine or glycine metabolism, +GARD:0018969,Orphanet,ORPHA:79195,Group of disorders,Category,Sterol biosynthesis disorder, +GARD:0018970,Orphanet,ORPHA:79196,Group of disorders,Category,Disorder of the gamma-glutamyl cycle, +GARD:0018971,Orphanet,ORPHA:79197,Group of disorders,Category,Disorder of branched-chain amino acid metabolism, +GARD:0018972,Orphanet,ORPHA:79200,Group of disorders,Category,Disorder of energy metabolism, +GARD:0018973,Orphanet,ORPHA:79201,Group of disorders,Category,Glycogen storage disease,GSD|Glycogenosis +GARD:0018974,Orphanet,ORPHA:79207,Group of disorders,Category,Disorder of lysosomal amino acid transport, +GARD:0018975,Orphanet,ORPHA:79212,Group of disorders,Category,Mucolipidosis, +GARD:0018976,Orphanet,ORPHA:79214,Group of disorders,Category,Disorder of biogenic amine metabolism and transport, +GARD:0018977,Orphanet,ORPHA:79215,Group of disorders,Category,Oligosaccharidosis, +GARD:0018978,Orphanet,ORPHA:79217,Group of disorders,Category,Other metabolic disease with skin involvement, +GARD:0018979,Orphanet,ORPHA:79219,Group of disorders,Category,Metabolic disease involving other neurotransmitter deficiency, +GARD:0018980,Orphanet,ORPHA:79224,Group of disorders,Category,Disorder of purine or pyrimidine metabolism, +GARD:0018981,Orphanet,ORPHA:79226,Group of disorders,Category,Sterol metabolism disorder, +GARD:0018982,Orphanet,ORPHA:79254,Subtype of disorder,Clinical subtype,Classic phenylketonuria,Classic PKU +GARD:0018983,Orphanet,ORPHA:79298,Group of disorders,Clinical group,Diazoxide-resistant focal hyperinsulinism,"Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form" +GARD:0018984,Orphanet,ORPHA:79353,Group of disorders,Category,Epidermal disease, +GARD:0018985,Orphanet,ORPHA:79354,Group of disorders,Category,Ichthyosis, +GARD:0018986,Orphanet,ORPHA:79355,Group of disorders,Category,Erythrokeratoderma, +GARD:0018987,Orphanet,ORPHA:79356,Group of disorders,Category,Acrokeratoderma, +GARD:0018988,Orphanet,ORPHA:79357,Group of disorders,Category,Hereditary palmoplantar keratoderma,Hereditary PPK|Hereditary keratosis palmoplantaris|Hereditary palmoplantar hyperkeratosis +GARD:0018989,Orphanet,ORPHA:79358,Group of disorders,Category,Porokeratosis, +GARD:0018990,Orphanet,ORPHA:79359,Group of disorders,Category,Other epidermal disorder, +GARD:0018991,Orphanet,ORPHA:79360,Group of disorders,Category,Other genetic epidermal disease, +GARD:0018992,Orphanet,ORPHA:79361,Group of disorders,Category,Inherited epidermolysis bullosa,Epidermolysis bullosa hereditaria|Hereditary epidermolysis bullosa +GARD:0018993,Orphanet,ORPHA:79362,Group of disorders,Category,Epidermal appendage anomaly, +GARD:0018994,Orphanet,ORPHA:79363,Group of disorders,Category,Hair anomaly, +GARD:0018995,Orphanet,ORPHA:79364,Group of disorders,Category,Alopecia, +GARD:0018996,Orphanet,ORPHA:79365,Group of disorders,Category,Rare disorder with hypertrichosis, +GARD:0018997,Orphanet,ORPHA:79366,Group of disorders,Category,Isolated hair shaft abnormality, +GARD:0018998,Orphanet,ORPHA:79367,Group of disorders,Category,Syndromic hair shaft abnormality, +GARD:0018999,Orphanet,ORPHA:79368,Group of disorders,Category,Nail anomaly, +GARD:0019000,Orphanet,ORPHA:79369,Group of disorders,Category,Isolated nail anomaly, +GARD:0019001,Orphanet,ORPHA:79370,Group of disorders,Category,Syndromic nail anomaly, +GARD:0019002,Orphanet,ORPHA:79372,Group of disorders,Category,Sebaceous gland anomaly, +GARD:0019003,Orphanet,ORPHA:79374,Group of disorders,Category,Pigmentation anomaly of the skin, +GARD:0019004,Orphanet,ORPHA:79375,Group of disorders,Category,Hyperpigmentation of the skin, +GARD:0019005,Orphanet,ORPHA:79376,Group of disorders,Category,Hypopigmentation of the skin, +GARD:0019006,Orphanet,ORPHA:79377,Group of disorders,Category,Dermis disorder, +GARD:0019007,Orphanet,ORPHA:79378,Group of disorders,Category,Dermis elastic tissue disorder, +GARD:0019008,Orphanet,ORPHA:79379,Group of disorders,Category,Skin vascular disease, +GARD:0019009,Orphanet,ORPHA:79380,Group of disorders,Category,Mixed dermis disorder, +GARD:0019010,Orphanet,ORPHA:79381,Group of disorders,Category,Other dermis disorder, +GARD:0019011,Orphanet,ORPHA:79382,Group of disorders,Category,Subcutaneous tissue disease, +GARD:0019012,Orphanet,ORPHA:79384,Group of disorders,Category,Rare urticaria, +GARD:0019013,Orphanet,ORPHA:79385,Group of disorders,Category,Unclassified genetic skin disorder, +GARD:0019014,Orphanet,ORPHA:79386,Group of disorders,Category,Rare skin tumor or hamartoma, +GARD:0019015,Orphanet,ORPHA:79387,Group of disorders,Category,Metabolic disease with skin involvement, +GARD:0019016,Orphanet,ORPHA:79388,Group of disorders,Category,Mucopolysaccharidosis with skin involvement,MPS with skin involvement +GARD:0019017,Orphanet,ORPHA:79389,Group of disorders,Category,Premature aging, +GARD:0019018,Orphanet,ORPHA:79390,Group of disorders,Category,Rare photodermatosis,Rare skin photosensitivity +GARD:0019019,Orphanet,ORPHA:79391,Group of disorders,Category,Immune deficiency with skin involvement, +GARD:0019020,Orphanet,ORPHA:79467,Subtype of disorder,Clinical subtype,Verrucous nevus, +GARD:0019021,Orphanet,ORPHA:79479,Disorder,Disease,Pemphigus vegetans, +GARD:0019022,Orphanet,ORPHA:79480,Disorder,Disease,Pemphigus erythematosus,Seborrheic pemphigus|Senear-Usher syndrome +GARD:0019023,Orphanet,ORPHA:79483,Subtype of disorder,Clinical subtype,Phakomatosis cesioflammea,Phakomatosis pigmentovascularis type 2 +GARD:0019024,Orphanet,ORPHA:79484,Subtype of disorder,Clinical subtype,Phakomatosis cesiomarmorata,Phakomatosis pigmentovascularis type 5 +GARD:0019025,Orphanet,ORPHA:79485,Subtype of disorder,Clinical subtype,Phakomatosis spilorosea,Phakomatosis pigmentovascularis type 3 +GARD:0019026,Orphanet,ORPHA:79492,Disorder,Disease,Pili gemini,Pili multigemini +GARD:0019027,Orphanet,ORPHA:79651,Subtype of disorder,Clinical subtype,Mild hyperphenylalaninemia,Mild HPA|Non-PKU HPA|mHPA +GARD:0019028,Orphanet,ORPHA:79669,Group of disorders,Clinical group,Autoimmune bullous skin disease, +GARD:0019029,Orphanet,ORPHA:83001,Group of disorders,Category,Urogenital tract malformation, +GARD:0019030,Orphanet,ORPHA:83312,Disorder,Disease,Rickettsialpox, +GARD:0019031,Orphanet,ORPHA:83313,Disorder,Disease,Boutonneuse fever,Mediterranean spotted fever +GARD:0019032,Orphanet,ORPHA:83314,Disorder,Disease,Epidemic typhus, +GARD:0019033,Orphanet,ORPHA:83315,Disorder,Disease,Murine typhus,Endemic typhus|Flea-borne typhus +GARD:0019034,Orphanet,ORPHA:83316,Disorder,Disease,Pseudotyphus of California, +GARD:0019035,Orphanet,ORPHA:83317,Disorder,Disease,Scrub typhus,Tsutsugamushi disease|Tsutsugamushi fever +GARD:0019036,Orphanet,ORPHA:83450,Disorder,Disease,Regional odontodysplasia,Ghost teeth +GARD:0019037,Orphanet,ORPHA:83453,Disorder,Disease,Vulvovaginal gingival syndrome, +GARD:0019038,Orphanet,ORPHA:83465,Disorder,Disease,Narcolepsy type 2,Narcolepsy without cataplexy +GARD:0019039,Orphanet,ORPHA:83468,Disorder,Disease,Solitary bone cyst,Unicameral bone cyst +GARD:0019040,Orphanet,ORPHA:83482,Disorder,Disease,Mycoplasma encephalitis, +GARD:0019041,Orphanet,ORPHA:83484,Disorder,Disease,St. Louis encephalitis,Saint Louis encephalitis +GARD:0019042,Orphanet,ORPHA:83595,Disorder,Disease,Colorado tick fever,American mountain fever|Colorado tick encephalitis|Colorado tick-borne disease|Mountain fever|Mountain tick fever +GARD:0019043,Orphanet,ORPHA:83616,Disorder,Disease,Rubella panencephalitis, +GARD:0019044,Orphanet,ORPHA:83619,Disorder,Malformation syndrome,Macrostomia-preauricular tags-external ophthalmoplegia syndrome, +GARD:0019045,Orphanet,ORPHA:83628,Disorder,Malformation syndrome,LUMBAR syndrome,Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome|PELVIS syndrome|Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome|SACRAL syndrome +GARD:0019046,Orphanet,ORPHA:84065,Disorder,Disease,Idiopathic malabsorption due to bile acid synthesis defects,Idiopathic bile acid malabsorption +GARD:0019047,Orphanet,ORPHA:84085,Disorder,Disease,Hinman syndrome,HAS|HS|Hinman-Allen syndrome|Non-neurogenic neurogenic bladder|Occult neuropathic bladder +GARD:0019048,Orphanet,ORPHA:84087,Disorder,Disease,Collagen type III glomerulopathy,Collagenofibrotic glomerulopathy +GARD:0019049,Orphanet,ORPHA:85168,Disorder,Malformation syndrome,Craniofacial conodysplasia, +GARD:0019050,Orphanet,ORPHA:85175,Disorder,Malformation syndrome,Astley-Kendall dysplasia, +GARD:0019051,Orphanet,ORPHA:85198,Disorder,Malformation syndrome,Dysspondyloenchondromatosis, +GARD:0019052,Orphanet,ORPHA:85200,Disorder,Malformation syndrome,Ischiovertebral syndrome,Ischiospinal dysostosis|Ischiovertebral dysplasia +GARD:0019053,Orphanet,ORPHA:85317,Disorder,Malformation syndrome,X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome, +GARD:0019054,Orphanet,ORPHA:85319,Disorder,Malformation syndrome,X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome, +GARD:0019055,Orphanet,ORPHA:85320,Disorder,Malformation syndrome,X-linked intellectual disability-macrocephaly-macroorchidism syndrome,Johnson syndrome +GARD:0019056,Orphanet,ORPHA:85322,Disorder,Malformation syndrome,"X-linked intellectual disability, Pai type", +GARD:0019057,Orphanet,ORPHA:85323,Disorder,Disease,"X-linked intellectual disability, Seemanova type", +GARD:0019058,Orphanet,ORPHA:85325,Disorder,Malformation syndrome,"X-linked intellectual disability, Stevenson type", +GARD:0019059,Orphanet,ORPHA:85326,Disorder,Malformation syndrome,"X-linked intellectual disability, Stoll type", +GARD:0019060,Orphanet,ORPHA:85327,Disorder,Disease,X-linked intellectual disability-acromegaly-hyperactivity syndrome, +GARD:0019061,Orphanet,ORPHA:85334,Disorder,Disease,"X-linked neurodegenerative syndrome, Bertini type", +GARD:0019062,Orphanet,ORPHA:85336,Disorder,Disease,"X-linked neurodegenerative syndrome, Hamel type", +GARD:0019063,Orphanet,ORPHA:85338,Disorder,Disease,X-linked intellectual disability-ataxia-apraxia syndrome, +GARD:0019064,Orphanet,ORPHA:85435,Disorder,Disease,Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis,Juvenile idiopathic rheumatoid factor-positive polyarthritis|Juvenile polyarthritis with rheumatoid factor|Rheumatoid factor-positive polyarticular JIA +GARD:0019065,Orphanet,ORPHA:85446,Disorder,Disease,Wild type ABeta2M amyloidosis,ABeta2Mwt amyloidosis|Dialysis-related amyloidosis|Dialysis-related arthropathy|Wild type ABeta2-microglobulinic amyloidosis +GARD:0019066,Orphanet,ORPHA:86797,Disorder,Disease,Atypical lichen myxedematosus,Intermediate lichen myxedematosus +GARD:0019067,Orphanet,ORPHA:86821,Disorder,Malformation syndrome,Lissencephaly type 3-familial fetal akinesia sequence syndrome, +GARD:0019068,Orphanet,ORPHA:86823,Group of disorders,Clinical group,Lissencephaly with cerebellar hypoplasia,LCH +GARD:0019069,Orphanet,ORPHA:86836,Group of disorders,Clinical group,Refractory cytopenia with multilineage dysplasia, +GARD:0019070,Orphanet,ORPHA:86839,Disorder,Disease,Refractory anemia with excess blasts,RAEB +GARD:0019071,Orphanet,ORPHA:86849,Disorder,Disease,Acute basophilic leukemia, +GARD:0019072,Orphanet,ORPHA:86854,Disorder,Disease,Splenic marginal zone lymphoma,SMZL +GARD:0019073,Orphanet,ORPHA:86861,Disorder,Disease,Non-amyloid monoclonal immunoglobulin deposition disease,Non-amyloid MIDD|Randall disease +GARD:0019074,Orphanet,ORPHA:86864,Disorder,Disease,Heavy chain disease,HCD +GARD:0019075,Orphanet,ORPHA:86867,Disorder,Disease,Nodal marginal zone B-cell lymphoma,NMZL +GARD:0019076,Orphanet,ORPHA:86875,Disorder,Disease,Adult T-cell leukemia/lymphoma,ATLL +GARD:0019077,Orphanet,ORPHA:86882,Disorder,Disease,Hepatosplenic T-cell lymphoma, +GARD:0019078,Orphanet,ORPHA:86885,Disorder,Disease,Primary cutaneous peripheral T-cell lymphoma not otherwise specified,Primary cutaneous peripheral T-cell lymphoma NOS|Primary cutaneous unspecified peripheral T-cell lymphoma +GARD:0019079,Orphanet,ORPHA:86893,Disorder,Disease,Nodular lymphocyte predominant Hodgkin lymphoma,NLPHL +GARD:0019080,Orphanet,ORPHA:86896,Disorder,Disease,Histiocytic sarcoma, +GARD:0019081,Orphanet,ORPHA:86902,Disorder,Disease,Follicular dendritic cell sarcoma, +GARD:0019082,Orphanet,ORPHA:86903,Disorder,Disease,Dendritic cell sarcoma not otherwise specified, +GARD:0019083,Orphanet,ORPHA:86904,Disorder,Disease,Methotrexate-associated lymphoproliferative disorders,MTX-LPD|MTX-associated lymphoproliferative disorders +GARD:0019084,Orphanet,ORPHA:86906,Disorder,Disease,Hypothalamic hamartomas with gelastic seizures, +GARD:0019085,Orphanet,ORPHA:86908,Disorder,Disease,Idiopathic hemiconvulsion-hemiplegia syndrome,HHE syndrome|Hemiconvulsion-hemiplegia-epilepsy syndrome|IHHS +GARD:0019086,Orphanet,ORPHA:86909,Disorder,Disease,Myoclonic epilepsy of infancy,Benign myoclonic epilepsy of infancy|Benign myoclonus epilepsy of infancy +GARD:0019087,Orphanet,ORPHA:86911,Disorder,Disease,Epilepsy with myoclonic absences, +GARD:0019088,Orphanet,ORPHA:86913,Disorder,Malformation syndrome,Myoclonic epilepsy in non-progressive encephalopathies,Myoclonic status in non-progressive encephalopathies|Myoclonus epilepsy in non-progressive encephalopathies +GARD:0019089,Orphanet,ORPHA:86918,Disorder,Disease,Diffuse palmoplantar keratoderma-acrocyanosis syndrome,Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome +GARD:0019090,Orphanet,ORPHA:87277,Group of disorders,Category,Rare intellectual disability, +GARD:0019091,Orphanet,ORPHA:87884,Disorder,Disease,Non-syndromic genetic deafness,Isolated genetic deafness|Isolated genetic hearing loss|Non-syndromic genetic hearing loss +GARD:0019092,Orphanet,ORPHA:88643,Disorder,Disease,Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome, +GARD:0019093,Orphanet,ORPHA:88660,Disorder,Disease,Hypertension due to gain-of-function mutations in the mineralocorticoid receptor,Early-onset hypertension with exacerbation in pregnancy|Pseudohyperaldosteronism type 2 +GARD:0019094,Orphanet,ORPHA:88991,Group of disorders,Category,Rare congenital non-syndromic heart malformation, +GARD:0019095,Orphanet,ORPHA:88993,Group of disorders,Category,Esophageal malformation, +GARD:0019096,Orphanet,ORPHA:89043,Group of disorders,Category,Rare dementia, +GARD:0019097,Orphanet,ORPHA:90002,Disorder,Disease,Undifferentiated connective tissue syndrome,UCTD +GARD:0019098,Orphanet,ORPHA:90003,Disorder,Disease,Inflammatory pseudotumor of the liver, +GARD:0019099,Orphanet,ORPHA:90021,Disorder,Disease,Radiation myelitis, +GARD:0019100,Orphanet,ORPHA:90025,Group of disorders,Category,Non-syndromic syndactyly, +GARD:0019101,Orphanet,ORPHA:90036,Disorder,Disease,Mixed-type autoimmune hemolytic anemia,Mixed AIHA +GARD:0019102,Orphanet,ORPHA:90037,Disorder,Disease,Drug-induced autoimmune hemolytic anemia,Drug-induced AIHA +GARD:0019103,Orphanet,ORPHA:90039,Disorder,Disease,Hemoglobin D disease, +GARD:0019104,Orphanet,ORPHA:90041,Disorder,Disease,Gaisböck syndrome,Stress erythrocytosis|Stress polycythemia +GARD:0019105,Orphanet,ORPHA:90051,Disorder,Particular clinical situation in a disease or syndrome,Sepsis in premature infants, +GARD:0019106,Orphanet,ORPHA:90052,Disorder,Particular clinical situation in a disease or syndrome,Recurrent hepatitis C virus induced liver disease in liver transplant recipients, +GARD:0019107,Orphanet,ORPHA:90053,Disorder,Particular clinical situation in a disease or syndrome,Complications after hematopoietic stem cell transplantation,Complications after HSCT +GARD:0019108,Orphanet,ORPHA:90056,Disorder,Particular clinical situation in a disease or syndrome,Moderate and severe traumatic brain injury, +GARD:0019109,Orphanet,ORPHA:90058,Disorder,Particular clinical situation in a disease or syndrome,Spinal cord injury, +GARD:0019110,Orphanet,ORPHA:90060,Disorder,Clinical syndrome,Diffuse alveolar hemorrhage, +GARD:0019111,Orphanet,ORPHA:90061,Group of disorders,Category,Non-infectious posterior uveitis,Non-infectious choroiditis +GARD:0019112,Orphanet,ORPHA:90062,Disorder,Clinical syndrome,Acute liver failure,Acute hepatic failure|Fulminant hepatic failure +GARD:0019113,Orphanet,ORPHA:90064,Disorder,Particular clinical situation in a disease or syndrome,Acute peripheral arterial occlusion, +GARD:0019114,Orphanet,ORPHA:90065,Disorder,Particular clinical situation in a disease or syndrome,Acquired aneurysmal subarachnoid hemorrhage, +GARD:0019115,Orphanet,ORPHA:90068,Disorder,Disease,Cocaine intoxication, +GARD:0019116,Orphanet,ORPHA:90069,Disorder,Disease,Systemic monochloroacetate poisoning, +GARD:0019117,Orphanet,ORPHA:90073,Disorder,Particular clinical situation in a disease or syndrome,Hepatitis B reinfection following liver transplantation, +GARD:0019118,Orphanet,ORPHA:90076,Disorder,Particular clinical situation in a disease or syndrome,Partial deep dermal and full thickness burns, +GARD:0019119,Orphanet,ORPHA:90077,Group of disorders,Category,Other acquired skin disease, +GARD:0019120,Orphanet,ORPHA:90078,Disorder,Particular clinical situation in a disease or syndrome,Invasive infections due to vancomycin-resistant enterococci,Invasive infections due to VRE +GARD:0019121,Orphanet,ORPHA:90080,Disorder,Particular clinical situation in a disease or syndrome,Scarring in glaucoma filtration surgical procedures, +GARD:0019122,Orphanet,ORPHA:90081,Disorder,Particular clinical situation in a disease or syndrome,AIDS wasting syndrome, +GARD:0019123,Orphanet,ORPHA:90118,Disorder,Disease,Severe early-onset axonal neuropathy due to MFN2 deficiency,"AR-CMT2, Ouvrier type|Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type|SEOAN due to MFN2 deficiency" +GARD:0019124,Orphanet,ORPHA:90119,Disorder,Disease,Hereditary motor and sensory neuropathy with acrodystrophy,AR-CMT2 with acrodystrophy|Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy|Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy|HMSN with acrodystrophy +GARD:0019125,Orphanet,ORPHA:90156,Disorder,Disease,Centrifugal lipodystrophy,Lipodystrophia centrifugalis abdominalis infantilis +GARD:0019126,Orphanet,ORPHA:90157,Disorder,Disease,Drug-induced localized lipodystrophy,Lipoatrophy caused by injected drug +GARD:0019127,Orphanet,ORPHA:90158,Disorder,Disease,Idiopathic localized lipodystrophy, +GARD:0019128,Orphanet,ORPHA:90159,Disorder,Disease,Panniculitis-induced localized lipodystrophy, +GARD:0019129,Orphanet,ORPHA:90160,Disorder,Disease,Pressure-induced localized lipoatrophy,Lipoatrophia semicircularis|Semicircular lipoatrophy +GARD:0019130,Orphanet,ORPHA:90280,Disorder,Disease,Chilblain lupus, +GARD:0019131,Orphanet,ORPHA:90281,Disorder,Disease,Discoid lupus erythematosus, +GARD:0019132,Orphanet,ORPHA:90282,Disorder,Disease,Hypertrophic or verrucous lupus erythematosus, +GARD:0019133,Orphanet,ORPHA:90285,Disorder,Disease,Lupus erythematosus panniculitis,Lupus erythematosus profundus +GARD:0019134,Orphanet,ORPHA:90350,Group of disorders,Clinical group,Autosomal recessive cutis laxa type 2,ARCL2|Cutis laxa with joint laxity and developmental delay +GARD:0019135,Orphanet,ORPHA:90363,Disorder,Disease,Secondary intestinal lymphangiectasia, +GARD:0019136,Orphanet,ORPHA:90389,Subtype of disorder,Clinical subtype,Telangiectasia macularis eruptiva perstans, +GARD:0019137,Orphanet,ORPHA:90393,Disorder,Disease,Nodular lichen myxedematosus,Atypical tuberous myxedema of Jadassohn-Dosseker +GARD:0019138,Orphanet,ORPHA:90394,Disorder,Disease,Discrete papular lichen myxedematosus, +GARD:0019139,Orphanet,ORPHA:90395,Disorder,Disease,Papular mucinosis of infancy,Cutaneous mucinosis of infancy +GARD:0019140,Orphanet,ORPHA:90396,Disorder,Disease,Acral persistent papular mucinosis, +GARD:0019141,Orphanet,ORPHA:90397,Disorder,Disease,Self-healing papular mucinosis, +GARD:0019142,Orphanet,ORPHA:90398,Subtype of disorder,Clinical subtype,Localized lichen myxedematosus with mixed features of different subtypes, +GARD:0019143,Orphanet,ORPHA:90399,Subtype of disorder,Clinical subtype,Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms, +GARD:0019144,Orphanet,ORPHA:90400,Subtype of disorder,Clinical subtype,Scleromyxedema without monoclonal gammopathy, +GARD:0019145,Orphanet,ORPHA:90642,Group of disorders,Category,Syndromic genetic deafness,Syndromic genetic hearing loss +GARD:0019146,Orphanet,ORPHA:90692,Group of disorders,Category,Rare endocrine growth disease, +GARD:0019147,Orphanet,ORPHA:90771,Group of disorders,Category,Disorder of sex development,DSD +GARD:0019148,Orphanet,ORPHA:90776,Group of disorders,Category,"46,XX disorder of sex development induced by fetal androgens excess","46,XX DSD induced by fetal androgens excess" +GARD:0019149,Orphanet,ORPHA:90783,Group of disorders,Category,"46,XY disorder of sex development due to a testosterone synthesis defect","46,XY DSD due to a testosterone synthesis defect" +GARD:0019150,Orphanet,ORPHA:90786,Group of disorders,Category,"46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect","46,XY DSD due to adrenal and testicular steroidogenesis defect" +GARD:0019151,Orphanet,ORPHA:90787,Group of disorders,Category,"46,XY disorder of sex development due to testicular steroidogenesis defect","46,XY DSD due to testicular steroidogenesis defect" +GARD:0019152,Orphanet,ORPHA:91088,Group of disorders,Category,Other metabolic disease, +GARD:0019153,Orphanet,ORPHA:91127,Disorder,Particular clinical situation in a disease or syndrome,Adenovirus infection in immunocompromised patients, +GARD:0019154,Orphanet,ORPHA:91136,Disorder,Disease,Acquired monoclonal Ig light chain-associated Fanconi syndrome,Acquired Fanconi syndrome secondary to monoclonal gammopathy|Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome +GARD:0019155,Orphanet,ORPHA:91140,Disorder,Disease,Unspecified juvenile idiopathic arthritis,Unspecified JIA +GARD:0019156,Orphanet,ORPHA:91144,Group of disorders,Category,"46,XX disorder of sex development induced by maternal-derived androgen","46,XX DSD induced by maternal-derived androgen" +GARD:0019157,Orphanet,ORPHA:91347,Disorder,Disease,TSH-secreting pituitary adenoma,Pituitary thyrotrophic adenoma|TSH-oma|Thyroid stimulating hormone-secreting pituitary adenoma|Thyrotroph adenoma +GARD:0019158,Orphanet,ORPHA:91348,Disorder,Disease,Functioning gonadotropic adenoma,Functioning pituitary gonadotropic adenoma|Gonadotroph adenoma +GARD:0019159,Orphanet,ORPHA:91349,Disorder,Disease,Non-functioning pituitary adenoma,NFPA +GARD:0019160,Orphanet,ORPHA:91350,Disorder,Disease,Pituitary deficiency due to Rathke cleft cysts, +GARD:0019161,Orphanet,ORPHA:91351,Disorder,Disease,Pituitary dermoid and epidermoid cysts, +GARD:0019162,Orphanet,ORPHA:91352,Subtype of disorder,Clinical subtype,Germinoma of the central nervous system, +GARD:0019163,Orphanet,ORPHA:91354,Disorder,Disease,Pituitary deficiency due to empty sella turcica syndrome,Hypopituitarism due to empty sella turcica syndrome +GARD:0019164,Orphanet,ORPHA:91357,Group of disorders,Clinical group,Duplication of the esophagus, +GARD:0019165,Orphanet,ORPHA:91358,Disorder,Morphological anomaly,Congenital esophageal diverticulum,Congenital esophageal pouch +GARD:0019166,Orphanet,ORPHA:91359,Disorder,Disease,Chronic pneumonitis of infancy,CPI +GARD:0019167,Orphanet,ORPHA:91364,Disorder,Disease,Non-specific interstitial pneumonia,NSIP|Non-specific idiopathic interstitial pneumonia +GARD:0019168,Orphanet,ORPHA:91397,Disorder,Morphological anomaly,Isolated ankyloblepharon filiforme adnatum, +GARD:0019169,Orphanet,ORPHA:91491,Disorder,Malformation syndrome,Congenital ectropion uveae, +GARD:0019170,Orphanet,ORPHA:91546,Disorder,Disease,Lyme disease,Lyme borreliosis +GARD:0019171,Orphanet,ORPHA:91547,Disorder,Disease,Relapsing fever, +GARD:0019172,Orphanet,ORPHA:93101,Disorder,Morphological anomaly,Renal hypoplasia, +GARD:0019173,Orphanet,ORPHA:93108,Disorder,Morphological anomaly,Renal dysplasia,Kidney dysplasia +GARD:0019174,Orphanet,ORPHA:93109,Disorder,Morphological anomaly,Congenital megacalycosis, +GARD:0019175,Orphanet,ORPHA:93126,Disorder,Disease,Pauci-immune glomerulonephritis, +GARD:0019176,Orphanet,ORPHA:93164,Disorder,Disease,Transient pseudohypoaldosteronism,Secondary pseudohypoaldosteronism|TPHA +GARD:0019177,Orphanet,ORPHA:93172,Subtype of disorder,Clinical subtype,"Renal dysplasia, unilateral","Kidney dysplasia, unilateral" +GARD:0019178,Orphanet,ORPHA:93173,Subtype of disorder,Clinical subtype,"Renal dysplasia, bilateral","Kidney dysplasia, bilateral" +GARD:0019179,Orphanet,ORPHA:93176,Subtype of disorder,Clinical subtype,Unilateral congenital megacalycosis, +GARD:0019180,Orphanet,ORPHA:93177,Subtype of disorder,Clinical subtype,Congenital bilateral megacalycosis, +GARD:0019181,Orphanet,ORPHA:93277,Subtype of disorder,Clinical subtype,Monostotic fibrous dysplasia,Jaffe-Lichtenstein disease +GARD:0019182,Orphanet,ORPHA:93320,Disorder,Morphological anomaly,Ulnar hemimelia,Congenital longitudinal deficiency of the ulna|Ulnar clubhand|Ulnar longitudinal meromelia +GARD:0019183,Orphanet,ORPHA:93399,Subtype of disorder,Clinical subtype,Juvenile sialidosis type 2, +GARD:0019184,Orphanet,ORPHA:93400,Subtype of disorder,Clinical subtype,Congenital sialidosis type 2, +GARD:0019185,Orphanet,ORPHA:93420,Group of disorders,Category,FGFR3-related chondrodysplasia, +GARD:0019186,Orphanet,ORPHA:93421,Group of disorders,Category,Type 2 collagen-related bone disorder, +GARD:0019187,Orphanet,ORPHA:93422,Group of disorders,Category,Type 11 collagen-related bone disorder, +GARD:0019188,Orphanet,ORPHA:93423,Group of disorders,Category,Sulfation-related bone disorder, +GARD:0019189,Orphanet,ORPHA:93424,Group of disorders,Category,Perlecan-related bone disorder, +GARD:0019190,Orphanet,ORPHA:93425,Group of disorders,Category,Filamin-related bone disorder,Bone filaminopathy +GARD:0019191,Orphanet,ORPHA:93429,Group of disorders,Category,Multiple epiphyseal dysplasia and pseudoachondroplasia, +GARD:0019192,Orphanet,ORPHA:93430,Group of disorders,Clinical group,Multiple metaphyseal dysplasia, +GARD:0019193,Orphanet,ORPHA:93434,Group of disorders,Clinical group,Spondylodysplastic dysplasia, +GARD:0019194,Orphanet,ORPHA:93436,Group of disorders,Clinical group,Acromelic dysplasia, +GARD:0019195,Orphanet,ORPHA:93438,Group of disorders,Clinical group,Mesomelic and rhizo-mesomelic dysplasia, +GARD:0019196,Orphanet,ORPHA:93439,Group of disorders,Clinical group,Campomelic dysplasia and related disorders,Bent bone dysplasia +GARD:0019197,Orphanet,ORPHA:93440,Group of disorders,Clinical group,Slender bone dysplasia, +GARD:0019198,Orphanet,ORPHA:93441,Group of disorders,Clinical group,Primary bone dysplasia with multiple joint dislocations,Primary osteodysplasia with multiple joint dislocations|Primary skeletal dysplasia with multiple joint dislocations +GARD:0019199,Orphanet,ORPHA:93443,Group of disorders,Clinical group,Neonatal osteosclerotic dysplasia, +GARD:0019200,Orphanet,ORPHA:93444,Group of disorders,Category,Primary bone dysplasia with increased bone density,Primary osteodysplasia with increased bone density|Primary skeletal dysplasia with increased bone density|Sclerosing bone dysplasia +GARD:0019201,Orphanet,ORPHA:93446,Group of disorders,Category,Primary bone dysplasia with decreased bone density,Primary osteodysplasia with decreased bone density|Primary skeletal dysplasia with decreased bone density +GARD:0019202,Orphanet,ORPHA:93447,Group of disorders,Category,Primary bone dysplasia with defective bone mineralization,Primary osteodysplasia with defective bone mineralization|Primary skeletal dysplasia with defective bone mineralization +GARD:0019203,Orphanet,ORPHA:93448,Group of disorders,Category,Lysosomal storage disease with skeletal involvement,Dysostosis multiplex +GARD:0019204,Orphanet,ORPHA:93449,Group of disorders,Category,Primary osteolysis, +GARD:0019205,Orphanet,ORPHA:93450,Group of disorders,Category,Primary bone dysplasia with disorganized development of skeletal components,Primary osteodysplasia with disorganized development of skeletal components|Primary skeletal dysplasia with disorganized development of skeletal components +GARD:0019206,Orphanet,ORPHA:93451,Group of disorders,Category,Cleidocranial dysplasia and isolated cranial ossification defect, +GARD:0019207,Orphanet,ORPHA:93453,Group of disorders,Category,Dysostosis with predominant craniofacial involvement, +GARD:0019208,Orphanet,ORPHA:93454,Group of disorders,Category,Dysostosis with predominant vertebral and costal involvement, +GARD:0019209,Orphanet,ORPHA:93455,Group of disorders,Category,Patellar dysostosis, +GARD:0019210,Orphanet,ORPHA:93457,Group of disorders,Category,Non-syndromic limb reduction defect,Non-syndromic limb hypoplasia +GARD:0019211,Orphanet,ORPHA:93458,Group of disorders,Category,"Non-syndromic polydactyly, syndactyly and/or hyperphalangy", +GARD:0019212,Orphanet,ORPHA:93459,Group of disorders,Category,Syndrome with synostosis or other joint formation defect, +GARD:0019213,Orphanet,ORPHA:93460,Group of disorders,Category,Overgrowth syndrome, +GARD:0019214,Orphanet,ORPHA:93461,Group of disorders,Category,Chromosomal disease with overgrowth, +GARD:0019215,Orphanet,ORPHA:93465,Group of disorders,Category,Lethal chondrodysplasia, +GARD:0019216,Orphanet,ORPHA:93545,Group of disorders,Category,Renal or urinary tract malformation,CAKUT|Congenital anomalies of kidney and urinary tract +GARD:0019217,Orphanet,ORPHA:93546,Group of disorders,Category,Non-syndromic renal or urinary tract malformation, +GARD:0019218,Orphanet,ORPHA:93547,Group of disorders,Category,Syndromic renal or urinary tract malformation, +GARD:0019219,Orphanet,ORPHA:93552,Disorder,Disease,Pediatric systemic lupus erythematosus,"SLE, pediatric onset" +GARD:0019220,Orphanet,ORPHA:93554,Subtype of disorder,Etiological subtype,Mixed cryoglobulinemia type II,MC type II +GARD:0019221,Orphanet,ORPHA:93555,Subtype of disorder,Etiological subtype,Mixed cryoglobulinemia type III,MC type III +GARD:0019222,Orphanet,ORPHA:93556,Subtype of disorder,Clinical subtype,Heavy chain deposition disease,HCDD +GARD:0019223,Orphanet,ORPHA:93557,Subtype of disorder,Clinical subtype,Light and heavy chain deposition disease,LHCDD +GARD:0019224,Orphanet,ORPHA:93560,Subtype of disorder,Clinical subtype,AApoAI amyloidosis,Apolipoprotein A-I amyloidosis|Familial amyloid nephropathy due to apolipoprotein A-I variant|Familial renal amyloidosis due to apolipoprotein A-I variant|Hereditary amyloid nephropathy due to apolipoprotein A-I variant|Hereditary renal amyloidosis due to apolipoprotein A-I variant +GARD:0019225,Orphanet,ORPHA:93561,Subtype of disorder,Clinical subtype,ALys amyloidosis,Familial amyloid nephropathy due to lysozyme variant|Familial renal amyloidosis due to lysozyme variant|Hereditary amyloid nephropathy due to lysozyme variant|Hereditary renal amyloidosis due to lysozyme variant|Lysozyme amyloidosis +GARD:0019226,Orphanet,ORPHA:93562,Subtype of disorder,Clinical subtype,AFib amyloidosis,Familial amyloid nephropathy due to fibrinogen A alpha-chain variant|Fibrinogen A alpha-chain amyloidosis|Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant|Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant +GARD:0019227,Orphanet,ORPHA:93573,Group of disorders,Clinical group,Thrombotic microangiopathy,TMA +GARD:0019228,Orphanet,ORPHA:93587,Group of disorders,Category,Genetic cystic renal disease,Hereditary cystic renal disease +GARD:0019229,Orphanet,ORPHA:93593,Group of disorders,Category,Nephropathy secondary to a storage or other metabolic disease, +GARD:0019230,Orphanet,ORPHA:93603,Group of disorders,Category,Rare renal tubular disease, +GARD:0019231,Orphanet,ORPHA:93614,Group of disorders,Category,Hematological disorder with renal involvement, +GARD:0019232,Orphanet,ORPHA:93618,Group of disorders,Category,Rare cause of hypertension, +GARD:0019233,Orphanet,ORPHA:93619,Group of disorders,Category,Rare renal tumor, +GARD:0019234,Orphanet,ORPHA:93665,Group of disorders,Category,Autoinflammatory syndrome, +GARD:0019235,Orphanet,ORPHA:93928,Subtype of disorder,Clinical subtype,Isolated epispadias, +GARD:0019236,Orphanet,ORPHA:93938,Subtype of disorder,Clinical subtype,Laryngotracheoesophageal cleft type 1,LTEC I|LTEC1|Laryngo-tracheo-esophageal cleft type 1 +GARD:0019237,Orphanet,ORPHA:93939,Subtype of disorder,Clinical subtype,Laryngotracheoesophageal cleft type 2,LTEC II|LTEC2|Laryngo-tracheo-esophageal cleft type 2 +GARD:0019238,Orphanet,ORPHA:93941,Subtype of disorder,Clinical subtype,Laryngotracheoesophageal cleft type 4,LTEC IV|LTEC4|Laryngo-tracheo-esophageal cleft type 4 +GARD:0019239,Orphanet,ORPHA:93945,Subtype of disorder,Clinical subtype,"X-linked intellectual disability, Porteous type", +GARD:0019240,Orphanet,ORPHA:93946,Subtype of disorder,Clinical subtype,Hamel cerebro-palato-cardiac syndrome, +GARD:0019241,Orphanet,ORPHA:93947,Subtype of disorder,Clinical subtype,"X-linked intellectual disability, Golabi-Ito-Hall type", +GARD:0019242,Orphanet,ORPHA:93950,Subtype of disorder,Clinical subtype,"X-linked intellectual disability, Sutherland-Haan type", +GARD:0019243,Orphanet,ORPHA:93958,Disorder,Disease,Oromandibular dystonia, +GARD:0019244,Orphanet,ORPHA:94056,Disorder,Morphological anomaly,Humero-ulnar synostosis,Humero-ulnar fusion +GARD:0019245,Orphanet,ORPHA:94058,Disorder,Particular clinical situation in a disease or syndrome,Neovascular glaucoma, +GARD:0019246,Orphanet,ORPHA:94059,Disorder,Particular clinical situation in a disease or syndrome,Uremic pruritus, +GARD:0019247,Orphanet,ORPHA:94066,Disorder,Malformation syndrome,Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia, +GARD:0019248,Orphanet,ORPHA:94080,Disorder,Disease,Non-functioning paraganglioma,Non-secreting paraganglioma +GARD:0019249,Orphanet,ORPHA:94087,Disorder,Disease,Cytophagic histiocytic panniculitis,CHP|Winkelmann cytophagic panniculitis +GARD:0019250,Orphanet,ORPHA:94091,Disorder,Disease,Mills syndrome, +GARD:0019251,Orphanet,ORPHA:94125,Disorder,Disease,Recessive mitochondrial ataxia syndrome,MIRAS +GARD:0019252,Orphanet,ORPHA:94145,Group of disorders,Clinical group,Autosomal dominant cerebellar ataxia type I,ADCA1|ADCAI|Autosomal dominant cerebellar ataxia type 1|Cerebellar plus syndrome +GARD:0019253,Orphanet,ORPHA:94148,Group of disorders,Clinical group,Autosomal dominant cerebellar ataxia type III,ADCA3|ADCAIII|Autosomal dominant cerebellar ataxia type 3|Pure cerebellar syndrome-mild pyramidal signs syndrome +GARD:0019254,Orphanet,ORPHA:94149,Group of disorders,Clinical group,Autosomal dominant cerebellar ataxia type IV,ADCA4|ADCAIV|Autosomal dominant cerebellar ataxia type 4 +GARD:0019255,Orphanet,ORPHA:95157,Group of disorders,Clinical group,Acute hepatic porphyria, +GARD:0019256,Orphanet,ORPHA:95161,Group of disorders,Clinical group,Chronic hepatic porphyria, +GARD:0019257,Orphanet,ORPHA:95409,Disorder,Clinical syndrome,Acute adrenal insufficiency,Acute adrenal failure|Acute adrenocortical insufficiency|Addisonian crisis|Adrenal crisis|Adrenocortical crisis +GARD:0019258,Orphanet,ORPHA:95427,Disorder,Disease,Secondary short bowel syndrome, +GARD:0019259,Orphanet,ORPHA:95443,Disorder,Morphological anomaly,Mesocardia,Midline heart +GARD:0019260,Orphanet,ORPHA:95448,Subtype of disorder,Clinical subtype,Congenital aortic valve atresia, +GARD:0019261,Orphanet,ORPHA:95457,Disorder,Morphological anomaly,Tricuspid valve agenesis,Congenital unguarded tricuspid orifice +GARD:0019262,Orphanet,ORPHA:95459,Disorder,Morphological anomaly,Congenital tricuspid stenosis, +GARD:0019263,Orphanet,ORPHA:95461,Disorder,Morphological anomaly,Straddling or overriding tricuspid valve, +GARD:0019264,Orphanet,ORPHA:95462,Disorder,Morphological anomaly,Accessory tricuspid valve tissue, +GARD:0019265,Orphanet,ORPHA:95463,Group of disorders,Category,Anomaly of the tricuspid subvalvular apparatus, +GARD:0019266,Orphanet,ORPHA:95464,Group of disorders,Category,Congenital mitral valve insufficiency and/or stenosis, +GARD:0019267,Orphanet,ORPHA:95465,Disorder,Morphological anomaly,Cleft mitral valve, +GARD:0019268,Orphanet,ORPHA:95474,Subtype of disorder,Clinical subtype,Double-orifice mitral valve, +GARD:0019269,Orphanet,ORPHA:95483,Group of disorders,Category,Univentricular cardiopathy, +GARD:0019270,Orphanet,ORPHA:95485,Group of disorders,Category,Arterial duct anomaly,Patent ductus arteriosus anomalies +GARD:0019271,Orphanet,ORPHA:95486,Disorder,Morphological anomaly,Premature closure of the arterial duct,Premature closure of the patent ductus arteriosus +GARD:0019272,Orphanet,ORPHA:95488,Group of disorders,Category,Non-acquired pituitary hormone deficiency, +GARD:0019273,Orphanet,ORPHA:95491,Disorder,Morphological anomaly,Congenital coronary artery aneurysm,Congenital coronary aneurysm +GARD:0019274,Orphanet,ORPHA:95495,Group of disorders,Category,Disease associated with non-acquired combined pituitary hormone deficiency, +GARD:0019275,Orphanet,ORPHA:95498,Group of disorders,Category,Congenital anomaly of superior vena cava,Congenital anomaly of superior caval vein|Congenital anomaly of the SVC +GARD:0019276,Orphanet,ORPHA:95499,Group of disorders,Category,Congenital anomaly of the inferior vena cava,Congenital anomaly of the IVC|Congenital anomaly of the inferior caval vein +GARD:0019277,Orphanet,ORPHA:95500,Group of disorders,Category,Congenital anomaly of the coronary sinus, +GARD:0019278,Orphanet,ORPHA:95502,Group of disorders,Category,Acquired pituitary hormone deficiency, +GARD:0019279,Orphanet,ORPHA:95503,Group of disorders,Category,Pituitary hormone deficiency of tumoral origin, +GARD:0019280,Orphanet,ORPHA:95505,Group of disorders,Category,Pituitary hormone deficiency of meningeal origin, +GARD:0019281,Orphanet,ORPHA:95506,Group of disorders,Clinical group,Primary hypophysitis,Autoimmune hypophysitis +GARD:0019282,Orphanet,ORPHA:95507,Disorder,Morphological anomaly,Congenital anomaly of hepatic vein, +GARD:0019283,Orphanet,ORPHA:95510,Group of disorders,Category,Atrial appendage anomaly,Atrial auricle anomaly +GARD:0019284,Orphanet,ORPHA:95512,Disorder,Disease,Adenohypophysitis,Anterior pituitary hypophysitis +GARD:0019285,Orphanet,ORPHA:95513,Disorder,Disease,Panhypophysitis,Infundibulo-panhypophysitis +GARD:0019286,Orphanet,ORPHA:95611,Group of disorders,Category,Pituitary hormone deficiency of vascular origin, +GARD:0019287,Orphanet,ORPHA:95613,Disorder,Disease,Pituitary apoplexy,Pituitary tumor apoplexy +GARD:0019288,Orphanet,ORPHA:95617,Group of disorders,Category,Pituitary hormone deficiency secondary to a granulomatous disease, +GARD:0019289,Orphanet,ORPHA:95618,Group of disorders,Category,Pituitary hormone deficiency secondary to storage disease, +GARD:0019290,Orphanet,ORPHA:95619,Disorder,Disease,Post-traumatic pituitary deficiency, +GARD:0019291,Orphanet,ORPHA:95626,Subtype of disorder,Clinical subtype,Acquired central diabetes insipidus,Acquired CDI|Acquired neurogenic diabetes insipidus +GARD:0019292,Orphanet,ORPHA:95707,Disorder,Morphological anomaly,Idiopathic isolated micropenis, +GARD:0019293,Orphanet,ORPHA:95709,Group of disorders,Category,Acquired premature ovarian failure, +GARD:0019294,Orphanet,ORPHA:95710,Group of disorders,Category,Non-acquired premature ovarian failure, +GARD:0019295,Orphanet,ORPHA:95711,Group of disorders,Category,Congenital hypothyroidism due to developmental anomaly,Primary congenital hypothyroidism due to developmental anomaly +GARD:0019296,Orphanet,ORPHA:95714,Group of disorders,Category,Primary congenital hypothyroidism without thyroid developmental anomaly, +GARD:0019297,Orphanet,ORPHA:95715,Disorder,Disease,Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies, +GARD:0019298,Orphanet,ORPHA:95717,Disorder,Disease,Idiopathic congenital hypothyroidism, +GARD:0019299,Orphanet,ORPHA:95718,Group of disorders,Category,Congenital thyroid malformation without hypothyroidism, +GARD:0019300,Orphanet,ORPHA:96059,Disorder,Malformation syndrome,Mosaic trisomy 4,Mosaic trisomy chromosome 4|Trisomy 4 mosaicism +GARD:0019301,Orphanet,ORPHA:96060,Disorder,Malformation syndrome,Mosaic trisomy 5,Mosaic trisomy chromosome 5|Trisomy 5 mosaicism +GARD:0019302,Orphanet,ORPHA:96063,Disorder,Malformation syndrome,Mosaic trisomy 10,Mosaic trisomy chromosome 10|Trisomy 10 mosaicism +GARD:0019303,Orphanet,ORPHA:96069,Disorder,Malformation syndrome,Distal trisomy 1p36,Distal duplication 1p36|Telomeric duplication 1p36|Trisomy 1pter +GARD:0019304,Orphanet,ORPHA:96070,Disorder,Malformation syndrome,Distal trisomy 2p,Distal duplication 2p|Telomeric duplication 2p|Trisomy 2pter +GARD:0019305,Orphanet,ORPHA:96071,Disorder,Malformation syndrome,Distal trisomy 3p,Distal duplication 3p|Telomeric duplication 3p|Trisomy 3pter +GARD:0019306,Orphanet,ORPHA:96072,Disorder,Malformation syndrome,4p16.3 microduplication syndrome,Distal duplication 4p|Distal trisomy 4p|Telomeric duplication 4p|Trisomy 4pter +GARD:0019307,Orphanet,ORPHA:96074,Disorder,Malformation syndrome,Distal trisomy 7p,Distal duplication 7p|Telomeric duplication 7p|Trisomy 7pter +GARD:0019308,Orphanet,ORPHA:96076,Subtype of disorder,Etiological subtype,Beckwith-Wiedemann syndrome due to 11p15 microduplication, +GARD:0019309,Orphanet,ORPHA:96092,Disorder,Malformation syndrome,8p inverted duplication/deletion syndrome,Invdupdel(8p)|Inverted 8p duplication/deletion syndrome +GARD:0019310,Orphanet,ORPHA:96094,Disorder,Malformation syndrome,Distal trisomy 2q,Distal duplication 2q|Telomeric duplication 2q|Trisomy 2qter +GARD:0019311,Orphanet,ORPHA:96095,Disorder,Malformation syndrome,3q26 microduplication syndrome,Dup(3)(q26)|Dup(3q) syndrome|Trisomy 3q26 +GARD:0019312,Orphanet,ORPHA:96096,Disorder,Malformation syndrome,Distal trisomy 4q,Distal duplication 4q|Telomeric duplication 4q|Trisomy 4qter +GARD:0019313,Orphanet,ORPHA:96097,Disorder,Malformation syndrome,Distal trisomy 5q,Distal duplication 5q|Telomeric duplication 5q|Trisomy 5qter +GARD:0019314,Orphanet,ORPHA:96098,Disorder,Malformation syndrome,Distal trisomy 6q,Distal duplication 6q|Telomeric duplication 6q|Trisomy 6qter +GARD:0019315,Orphanet,ORPHA:96100,Disorder,Malformation syndrome,Distal trisomy 8q,Distal duplication 8q|Telomeric duplication 8q|Trisomy 8qter +GARD:0019316,Orphanet,ORPHA:96101,Disorder,Malformation syndrome,Distal trisomy 9q,Distal duplication 9q|Telomeric duplication 9q|Trisomy 9qter +GARD:0019317,Orphanet,ORPHA:96102,Disorder,Malformation syndrome,Distal trisomy 10q,Distal duplication 10q|Telomeric duplication 10q|Trisomy 10qter +GARD:0019318,Orphanet,ORPHA:96103,Disorder,Malformation syndrome,Distal trisomy 11q,Distal duplication 11q|Telomeric duplication 11q|Trisomy 11qter +GARD:0019319,Orphanet,ORPHA:96105,Disorder,Malformation syndrome,Distal trisomy 13q,Distal duplication 13q|Telomeric duplication 13q|Trisomy 13qter +GARD:0019320,Orphanet,ORPHA:96106,Disorder,Malformation syndrome,Distal trisomy 16q,Distal duplication 16q|Telomeric duplication 16q|Trisomy 16qter +GARD:0019321,Orphanet,ORPHA:96107,Disorder,Malformation syndrome,Distal trisomy 20q,Distal duplication 20q|Telomeric duplication 20q|Trisomy 20qter +GARD:0019322,Orphanet,ORPHA:96109,Disorder,Malformation syndrome,Distal trisomy 22q,Distal duplication 22q|Telomeric duplication 22q|Trisomy 22qter +GARD:0019323,Orphanet,ORPHA:96112,Disorder,Malformation syndrome,Non-distal trisomy 9q,Non-distal duplication 9q|Non-telomeric trisomy 9q +GARD:0019324,Orphanet,ORPHA:96123,Disorder,Malformation syndrome,Monosomy 22,Del(22)|Deletion 22 +GARD:0019325,Orphanet,ORPHA:96126,Disorder,Malformation syndrome,Distal monosomy 7p,Distal deletion 7p|Monosomy 7pter|Telomeric deletion 7p +GARD:0019326,Orphanet,ORPHA:96129,Disorder,Malformation syndrome,Distal monosomy 19p13.3,Distal deletion 19p|Telomeric deletion 19p +GARD:0019327,Orphanet,ORPHA:96145,Disorder,Malformation syndrome,Distal monosomy 4q,Distal deletion 4q|Monosomy 4qter|Telomeric deletion 4q +GARD:0019328,Orphanet,ORPHA:96149,Disorder,Malformation syndrome,Distal monosomy 12q,Distal deletion 12q|Monosomy 12qter|Telomeric deletion 12q +GARD:0019329,Orphanet,ORPHA:96150,Disorder,Malformation syndrome,Distal monosomy 14q,Distal deletion 14q|Telomeric deletion 14q +GARD:0019330,Orphanet,ORPHA:96160,Disorder,Malformation syndrome,Non-distal monosomy 12q,Non-distal deletion 12q|Non-telomeric monosomy 12q +GARD:0019331,Orphanet,ORPHA:96179,Disorder,Malformation syndrome,Maternal uniparental disomy of chromosome 2,UPD(2)mat +GARD:0019332,Orphanet,ORPHA:96180,Disorder,Malformation syndrome,Maternal uniparental disomy of chromosome 4,UPD(4)mat +GARD:0019333,Orphanet,ORPHA:96181,Disorder,Malformation syndrome,Maternal uniparental disomy of chromosome 6,UPD(6)mat +GARD:0019334,Orphanet,ORPHA:96182,Subtype of disorder,Etiological subtype,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7,UPD(7)mat +GARD:0019335,Orphanet,ORPHA:96183,Disorder,Malformation syndrome,Maternal uniparental disomy of chromosome 9,UPD(9)mat +GARD:0019336,Orphanet,ORPHA:96185,Disorder,Malformation syndrome,Maternal uniparental disomy of chromosome 16,UPD(16)mat +GARD:0019337,Orphanet,ORPHA:96187,Disorder,Malformation syndrome,Maternal uniparental disomy of chromosome 21,UPD(21)mat +GARD:0019338,Orphanet,ORPHA:96188,Disorder,Malformation syndrome,Maternal uniparental disomy of chromosome 22,UPD(22)mat +GARD:0019339,Orphanet,ORPHA:96190,Disorder,Malformation syndrome,Paternal uniparental disomy of chromosome 5,UPD(5)pat +GARD:0019340,Orphanet,ORPHA:96191,Disorder,Malformation syndrome,Paternal uniparental disomy of chromosome 6,UPD(6)pat +GARD:0019341,Orphanet,ORPHA:96192,Disorder,Malformation syndrome,Paternal uniparental disomy of chromosome 7,UPD(7)pat +GARD:0019342,Orphanet,ORPHA:96193,Subtype of disorder,Etiological subtype,Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11,Mosaic paternal uniparental disomy of chromosome 11|UPD(11)pat +GARD:0019343,Orphanet,ORPHA:96194,Disorder,Malformation syndrome,Paternal uniparental disomy of chromosome 20,Paternal UPD(20)|UPD(20)pat +GARD:0019344,Orphanet,ORPHA:96195,Disorder,Malformation syndrome,Paternal uniparental disomy of chromosome 21,UPD(21)pat +GARD:0019345,Orphanet,ORPHA:96201,Disorder,Malformation syndrome,X small rings, +GARD:0019346,Orphanet,ORPHA:96210,Group of disorders,Category,Rare genetic deafness,Rare genetic hearing loss +GARD:0019347,Orphanet,ORPHA:96269,Disorder,Morphological anomaly,Isolated partial vaginal agenesis,Congenital absence of vagina +GARD:0019348,Orphanet,ORPHA:96321,Group of disorders,Category,Polyploidy, +GARD:0019349,Orphanet,ORPHA:96325,Group of disorders,Category,Isochromosome Y, +GARD:0019350,Orphanet,ORPHA:96333,Group of disorders,Category,Rare otorhinolaryngological malformation, +GARD:0019351,Orphanet,ORPHA:96346,Group of disorders,Category,Anorectal malformation,ARM +GARD:0019352,Orphanet,ORPHA:96369,Disorder,Disease,Early-onset schizophrenia, +GARD:0019353,Orphanet,ORPHA:97230,Disorder,Disease,Solar urticaria, +GARD:0019354,Orphanet,ORPHA:97240,Disorder,Disease,Zebra body myopathy, +GARD:0019355,Orphanet,ORPHA:97252,Disorder,Morphological anomaly,Mega-cisterna magna, +GARD:0019356,Orphanet,ORPHA:97261,Disorder,Disease,GRFoma,GRF tumor|Growth hormone releasing factor tumor +GARD:0019357,Orphanet,ORPHA:97275,Group of disorders,Category,Encephalitis, +GARD:0019358,Orphanet,ORPHA:97278,Disorder,Disease,PPoma,Pancreatic polypeptidoma +GARD:0019359,Orphanet,ORPHA:97285,Disorder,Disease,Thyroid lymphoma, +GARD:0019360,Orphanet,ORPHA:97287,Disorder,Disease,Bronchial neuroendocrine tumor,Bronchial NET +GARD:0019361,Orphanet,ORPHA:97289,Disorder,Disease,Thymic neuroendocrine tumor, +GARD:0019362,Orphanet,ORPHA:97292,Disorder,Particular clinical situation in a disease or syndrome,Cardiogenic shock, +GARD:0019363,Orphanet,ORPHA:97293,Group of disorders,Category,Rare benign ovarian tumor, +GARD:0019364,Orphanet,ORPHA:97335,Disorder,Disease,Osgood-Schlatter disease,Aseptic necrosis of the tibial tubercle|Osteochondrosis of the tibial tubercle +GARD:0019365,Orphanet,ORPHA:97336,Disorder,Disease,Panner disease,Aseptic necrosis of the capital humerus|Osteochondrosis of the capital humerus +GARD:0019366,Orphanet,ORPHA:97337,Disorder,Disease,Sinding-Larsen-Johansson disease,Aseptic necrosis of patella|Osteochondrosis of patella +GARD:0019367,Orphanet,ORPHA:97338,Disorder,Disease,Melanoma of soft tissue,Clear cell sarcoma of the tendons and aponeuroses +GARD:0019368,Orphanet,ORPHA:97339,Disorder,Morphological anomaly,Dural sinus malformation,Cranial dural arteriovenous fistula|Cranial dural arteriovenous malformations +GARD:0019369,Orphanet,ORPHA:97341,Disorder,Disease,Persistent placoid maculopathy, +GARD:0019370,Orphanet,ORPHA:97349,Disorder,Disease,Postencephalitic parkinsonism, +GARD:0019371,Orphanet,ORPHA:97353,Disorder,Disease,Dementia pugilistica,Boxer's dementia|Chronic traumatic encephalopathy|Punch-drunk syndrome +GARD:0019372,Orphanet,ORPHA:97355,Disorder,Disease,Caribbean parkinsonism,Atypical parkinsonism in the Caribbean +GARD:0019373,Orphanet,ORPHA:97361,Subtype of disorder,Clinical subtype,"Renal hypoplasia, unilateral", +GARD:0019374,Orphanet,ORPHA:97362,Subtype of disorder,Clinical subtype,"Renal hypoplasia, bilateral", +GARD:0019375,Orphanet,ORPHA:97363,Subtype of disorder,Clinical subtype,Unilateral multicystic dysplastic kidney,Unilateral MCDK|Unilateral multicystic renal dysplasia +GARD:0019376,Orphanet,ORPHA:97366,Disorder,Morphological anomaly,Multiloculated renal cyst,Multilocular cyst of the kidney|Multilocular renal cyst +GARD:0019377,Orphanet,ORPHA:97367,Subtype of disorder,Etiological subtype,Renal tubular dysgenesis due to twin-twin transfusion, +GARD:0019378,Orphanet,ORPHA:97368,Subtype of disorder,Etiological subtype,Drug-related renal tubular dysgenesis, +GARD:0019379,Orphanet,ORPHA:97563,Subtype of disorder,Clinical subtype,Pauci-immune glomerulonephritis with ANCA,Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody +GARD:0019380,Orphanet,ORPHA:97564,Subtype of disorder,Clinical subtype,Pauci-immune glomerulonephritis without ANCA,Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis|Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody +GARD:0019381,Orphanet,ORPHA:97598,Disorder,Disease,Congenital renal artery stenosis,Congenital renovascular hypoplasia +GARD:0019382,Orphanet,ORPHA:97678,Disorder,Malformation syndrome,Maternal uniparental disomy of chromosome 13,UPD(13)mat +GARD:0019383,Orphanet,ORPHA:97944,Group of disorders,Category,Gastroduodenal malformation, +GARD:0019384,Orphanet,ORPHA:97945,Group of disorders,Category,Intestinal malformation, +GARD:0019385,Orphanet,ORPHA:97957,Group of disorders,Category,Respiratory or thoracic malformation, +GARD:0019386,Orphanet,ORPHA:98010,Group of disorders,Category,Infectious disease of the nervous system, +GARD:0019387,Orphanet,ORPHA:98022,Group of disorders,Category,Rare headache, +GARD:0019388,Orphanet,ORPHA:98027,Group of disorders,Category,Rare disease with odontological manifestation, +GARD:0019389,Orphanet,ORPHA:98033,Group of disorders,Category,Rare neurologic disease with psychiatric involvement, +GARD:0019390,Orphanet,ORPHA:98038,Group of disorders,Category,Cranial malformation, +GARD:0019391,Orphanet,ORPHA:98039,Group of disorders,Category,Digestive tract malformation, +GARD:0019392,Orphanet,ORPHA:98041,Group of disorders,Category,"Visceral malformation of the liver, biliary tract, pancreas or spleen", +GARD:0019393,Orphanet,ORPHA:98043,Group of disorders,Category,Diaphragmatic or abdominal wall malformation, +GARD:0019394,Orphanet,ORPHA:98044,Group of disorders,Category,Central nervous system malformation, +GARD:0019395,Orphanet,ORPHA:98045,Group of disorders,Category,Respiratory or mediastinal malformation, +GARD:0019396,Orphanet,ORPHA:98048,Group of disorders,Category,Rare male infertility, +GARD:0019397,Orphanet,ORPHA:98049,Group of disorders,Category,Rare female infertility, +GARD:0019398,Orphanet,ORPHA:98052,Group of disorders,Category,Rare allergic respiratory disease,Rare respiratory allergy +GARD:0019399,Orphanet,ORPHA:98054,Group of disorders,Category,Rare genetic cardiac disease, +GARD:0019400,Orphanet,ORPHA:98056,Group of disorders,Category,Rare genetic renal disease, +GARD:0019401,Orphanet,ORPHA:98057,Group of disorders,Category,Rare tumor,Rare neoplasm +GARD:0019402,Orphanet,ORPHA:98058,Group of disorders,Category,Rare urinary tract tumor,Rare urinary tract cancer|Rare urinary tract neoplasm +GARD:0019403,Orphanet,ORPHA:98059,Group of disorders,Category,Rare digestive tumor,Rare digestive cancer|Rare digestive neoplasm +GARD:0019404,Orphanet,ORPHA:98060,Group of disorders,Category,Rare respiratory tumor,Rare respiratory cancer|Rare respiratory neoplasm +GARD:0019405,Orphanet,ORPHA:98061,Group of disorders,Category,Rare otorhinolaryngologic tumor,Rare ORL cancer|Rare ORL neoplasm|Rare ORL tumor +GARD:0019406,Orphanet,ORPHA:98062,Group of disorders,Category,Rare nervous system tumor,Rare nervous system neoplasm +GARD:0019407,Orphanet,ORPHA:98063,Group of disorders,Category,Rare gynecological tumor,Rare gynaecological cancer|Rare gynaecological neoplasm +GARD:0019408,Orphanet,ORPHA:98074,Group of disorders,Category,Gonadal dysgenesis of gynecological interest, +GARD:0019409,Orphanet,ORPHA:98078,Group of disorders,Category,"46,XX disorder of sex development induced by androgens excess","46,XX DSD induced by androgens excess" +GARD:0019410,Orphanet,ORPHA:98086,Group of disorders,Category,"46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue", +GARD:0019411,Orphanet,ORPHA:98087,Group of disorders,Category,"Syndrome with 46,XY disorder of sex development","Syndrome with 46,XY DSD" +GARD:0019412,Orphanet,ORPHA:98095,Group of disorders,Category,Autosomal recessive congenital cerebellar ataxia, +GARD:0019413,Orphanet,ORPHA:98096,Group of disorders,Category,Autosomal recessive metabolic cerebellar ataxia, +GARD:0019414,Orphanet,ORPHA:98097,Group of disorders,Category,Autosomal recessive cerebellar ataxia due to a DNA repair defect, +GARD:0019415,Orphanet,ORPHA:98098,Group of disorders,Category,Autosomal recessive degenerative and progressive cerebellar ataxia, +GARD:0019416,Orphanet,ORPHA:98099,Group of disorders,Category,Autosomal recessive syndromic cerebellar ataxia, +GARD:0019417,Orphanet,ORPHA:98127,Group of disorders,Category,Autosomal anomaly, +GARD:0019418,Orphanet,ORPHA:98130,Group of disorders,Category,Autosomal trisomy,Autosomal duplication +GARD:0019419,Orphanet,ORPHA:98131,Group of disorders,Category,Total autosomal trisomy, +GARD:0019420,Orphanet,ORPHA:98132,Group of disorders,Category,Partial autosomal trisomy/tetrasomy, +GARD:0019421,Orphanet,ORPHA:98141,Group of disorders,Category,Total autosomal monosomy, +GARD:0019422,Orphanet,ORPHA:98142,Group of disorders,Category,Partial autosomal monosomy,Partial autosomal deletion +GARD:0019423,Orphanet,ORPHA:98152,Group of disorders,Category,Autosomal uniparental disomy, +GARD:0019424,Orphanet,ORPHA:98153,Group of disorders,Category,Maternal uniparental disomy, +GARD:0019425,Orphanet,ORPHA:98154,Group of disorders,Category,Paternal uniparental disomy, +GARD:0019426,Orphanet,ORPHA:98155,Group of disorders,Category,Sex-chromosome anomaly,Allosome anomaly +GARD:0019427,Orphanet,ORPHA:98156,Group of disorders,Category,Sex-chromosome number anomaly,Allosome number anomaly +GARD:0019428,Orphanet,ORPHA:98157,Group of disorders,Category,Sex-chromosome structural anomaly,Allosome structural anomaly +GARD:0019429,Orphanet,ORPHA:98158,Group of disorders,Category,Chromosome Y structural anomaly, +GARD:0019430,Orphanet,ORPHA:98159,Group of disorders,Category,Chromosome X structural anomaly, +GARD:0019431,Orphanet,ORPHA:98196,Group of disorders,Category,Malformation syndrome with hamartosis,Dysmorphologic diseases with phakomatosis +GARD:0019432,Orphanet,ORPHA:98203,Group of disorders,Category,Combined dystonia,Dystonia-plus syndrome +GARD:0019433,Orphanet,ORPHA:98252,Group of disorders,Category,Infectious encephalitis, +GARD:0019434,Orphanet,ORPHA:98255,Group of disorders,Category,Chronic encephalitis, +GARD:0019435,Orphanet,ORPHA:98257,Group of disorders,Category,Neonatal epilepsy syndrome, +GARD:0019436,Orphanet,ORPHA:98258,Group of disorders,Category,Infantile epilepsy syndrome, +GARD:0019437,Orphanet,ORPHA:98259,Group of disorders,Category,Childhood-onset epilepsy syndrome, +GARD:0019438,Orphanet,ORPHA:98260,Group of disorders,Category,Adolescent-onset epilepsy syndrome, +GARD:0019439,Orphanet,ORPHA:98267,Disorder,Disease,Genetic non-syndromic obesity,Monogenic obesity due to a leptin-melanocortin pathway anomaly +GARD:0019440,Orphanet,ORPHA:98282,Group of disorders,Category,Plasma cell tumor, +GARD:0019441,Orphanet,ORPHA:98287,Group of disorders,Category,Histiocytic and dendritic cell tumor, +GARD:0019442,Orphanet,ORPHA:98288,Group of disorders,Category,Macrophage or histiocytic tumor, +GARD:0019443,Orphanet,ORPHA:98290,Group of disorders,Category,Immunodeficiency-associated lymphoproliferative disease, +GARD:0019444,Orphanet,ORPHA:98301,Group of disorders,Category,Laminopathy, +GARD:0019445,Orphanet,ORPHA:98313,Group of disorders,Category,Male infertility due to gonadal dysgenesis,Male infertility due to testicular dysgenesis +GARD:0019446,Orphanet,ORPHA:98343,Group of disorders,Category,Male infertility due to obstructive azoospermia,Male infertility due to impaired sperm transport +GARD:0019447,Orphanet,ORPHA:98349,Group of disorders,Category,Autosomal dominant isolated diffuse palmoplantar keratoderma,Autosomal dominant isolated diffuse palmoplantar hyperkeratosis +GARD:0019448,Orphanet,ORPHA:98352,Group of disorders,Category,Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature,Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature +GARD:0019449,Orphanet,ORPHA:98353,Group of disorders,Category,Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature,Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature +GARD:0019450,Orphanet,ORPHA:98356,Group of disorders,Category,Autosomal recessive isolated diffuse palmoplantar keratoderma,Autosomal recessive isolated diffuse palmoplantar hyperkeratosis +GARD:0019451,Orphanet,ORPHA:98357,Group of disorders,Category,Autosomal recessive disease with focal palmoplantar keratoderma as a major feature,Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature +GARD:0019452,Orphanet,ORPHA:98360,Group of disorders,Category,Constitutional anemia due to iron metabolism disorder, +GARD:0019453,Orphanet,ORPHA:98362,Group of disorders,Category,Constitutional sideroblastic anemia, +GARD:0019454,Orphanet,ORPHA:98363,Group of disorders,Category,Rare hemolytic anemia, +GARD:0019455,Orphanet,ORPHA:98364,Group of disorders,Category,Rare constitutional hemolytic anemia due to a red cell membrane anomaly, +GARD:0019456,Orphanet,ORPHA:98365,Group of disorders,Clinical group,Hereditary stomatocytosis,Hereditary stomatocytic disease +GARD:0019457,Orphanet,ORPHA:98366,Group of disorders,Category,Constitutional hemolytic anemia due to acanthocytosis,Constitutional hemolytic anemia due to acanthocytic disorder +GARD:0019458,Orphanet,ORPHA:98369,Group of disorders,Category,Rare constitutional hemolytic anemia due to an enzyme disorder, +GARD:0019459,Orphanet,ORPHA:98370,Group of disorders,Category,Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies, +GARD:0019460,Orphanet,ORPHA:98372,Group of disorders,Category,Hemolytic anemia due to a disorder of glycolytic enzymes, +GARD:0019461,Orphanet,ORPHA:98374,Group of disorders,Category,Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder,Hemolytic anemia due to an erythroenzymopathy +GARD:0019462,Orphanet,ORPHA:98396,Group of disorders,Category,Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder, +GARD:0019463,Orphanet,ORPHA:98408,Group of disorders,Category,Constitutional megaloblastic anemia due to folate metabolism disorder, +GARD:0019464,Orphanet,ORPHA:98415,Group of disorders,Category,Vitamin B12- and folate-independent constitutional megaloblastic anemia, +GARD:0019465,Orphanet,ORPHA:98421,Group of disorders,Clinical group,Primary acquired red cell aplasia,Primary autoimmune red cell aplasia +GARD:0019466,Orphanet,ORPHA:98427,Group of disorders,Clinical group,Polycythemia, +GARD:0019467,Orphanet,ORPHA:98428,Group of disorders,Category,Secondary polycythemia,Secondary erythrocytosis +GARD:0019468,Orphanet,ORPHA:98429,Group of disorders,Category,Rare coagulation disorder, +GARD:0019469,Orphanet,ORPHA:98455,Group of disorders,Category,Alpha granule disease, +GARD:0019470,Orphanet,ORPHA:98456,Group of disorders,Category,Dense granule disease,Delta granule disease +GARD:0019471,Orphanet,ORPHA:98472,Group of disorders,Category,Skeletal muscle disease, +GARD:0019472,Orphanet,ORPHA:98486,Group of disorders,Category,Metabolic myopathy, +GARD:0019473,Orphanet,ORPHA:98491,Group of disorders,Category,Neuromuscular junction disease, +GARD:0019474,Orphanet,ORPHA:98494,Group of disorders,Category,Acquired neuromuscular junction disease, +GARD:0019475,Orphanet,ORPHA:98495,Group of disorders,Category,Genetic neuromuscular junction disease, +GARD:0019476,Orphanet,ORPHA:98496,Group of disorders,Category,Rare peripheral neuropathy, +GARD:0019477,Orphanet,ORPHA:98503,Group of disorders,Category,Motor neuron disease,Anterior horn cell disease +GARD:0019478,Orphanet,ORPHA:98505,Group of disorders,Category,Genetic motor neuron disease,Genetic anterior horn cell disease +GARD:0019479,Orphanet,ORPHA:98506,Group of disorders,Category,Acquired motor neuron disease,Acquired anterior horn cell disease +GARD:0019480,Orphanet,ORPHA:98514,Group of disorders,Category,Malformation of the cerebellar vermis, +GARD:0019481,Orphanet,ORPHA:98516,Group of disorders,Category,Malformation of the cerebellar hemispheres, +GARD:0019482,Orphanet,ORPHA:98518,Group of disorders,Category,Cranial nerve and nuclear aplasia, +GARD:0019483,Orphanet,ORPHA:98519,Group of disorders,Category,Posterior fossa malformation, +GARD:0019484,Orphanet,ORPHA:98534,Group of disorders,Category,Neurodegenerative disease with dementia, +GARD:0019485,Orphanet,ORPHA:98535,Group of disorders,Clinical group,Frontotemporal degeneration with dementia, +GARD:0019486,Orphanet,ORPHA:98538,Group of disorders,Category,Ataxia with dementia, +GARD:0019487,Orphanet,ORPHA:98539,Group of disorders,Category,Early-onset ataxia with dementia, +GARD:0019488,Orphanet,ORPHA:98540,Group of disorders,Category,Late-onset ataxia with dementia, +GARD:0019489,Orphanet,ORPHA:98542,Group of disorders,Category,Infectious disease with dementia, +GARD:0019490,Orphanet,ORPHA:98543,Group of disorders,Category,Metabolic disease with dementia, +GARD:0019491,Orphanet,ORPHA:98544,Group of disorders,Category,Cerebral lipidosis with dementia, +GARD:0019492,Orphanet,ORPHA:98549,Group of disorders,Category,Rare cerebrovascular dementia, +GARD:0019493,Orphanet,ORPHA:98555,Group of disorders,Category,Microphthalmia-anophthalmia-coloboma,Anophthalmia-microphthalmia syndrome +GARD:0019494,Orphanet,ORPHA:98557,Group of disorders,Category,Syndromic aniridia, +GARD:0019495,Orphanet,ORPHA:98560,Group of disorders,Category,Rare palpebral disorder, +GARD:0019496,Orphanet,ORPHA:98561,Group of disorders,Category,Congenital malformation of the eyelid, +GARD:0019497,Orphanet,ORPHA:98563,Group of disorders,Clinical group,Microblepharon-ablephara syndrome, +GARD:0019498,Orphanet,ORPHA:98564,Group of disorders,Category,Eyelid border anomaly, +GARD:0019499,Orphanet,ORPHA:98565,Group of disorders,Category,Syndromic ankyloblepharon filiforme adnatum,Syndromic ankyloblepharon +GARD:0019500,Orphanet,ORPHA:98566,Group of disorders,Category,Syndromic eyelid coloboma,Syndromic palpebral coloboma +GARD:0019501,Orphanet,ORPHA:98567,Group of disorders,Category,Rare eyelid malposition disorder,Eyelids malposition disorder +GARD:0019502,Orphanet,ORPHA:98570,Group of disorders,Category,Congenital ectropion, +GARD:0019503,Orphanet,ORPHA:98571,Group of disorders,Category,Secondary ectropion, +GARD:0019504,Orphanet,ORPHA:98574,Group of disorders,Category,Syndromic epicanthus, +GARD:0019505,Orphanet,ORPHA:98575,Group of disorders,Category,Syndromic telecanthus, +GARD:0019506,Orphanet,ORPHA:98576,Group of disorders,Category,Syndromic outer canthal malposition,Malposition of external canthus +GARD:0019507,Orphanet,ORPHA:98578,Group of disorders,Category,Rare disorder with ptosis, +GARD:0019508,Orphanet,ORPHA:98594,Group of disorders,Category,Rare eyebrow/eyelash disorder,Rare eyebrow/eyelashes anomaly +GARD:0019509,Orphanet,ORPHA:98602,Group of disorders,Category,Rare disorder of the lacrimal apparatus,Rare lacrimal system disease +GARD:0019510,Orphanet,ORPHA:98604,Group of disorders,Category,Congenital alacrima, +GARD:0019511,Orphanet,ORPHA:98605,Group of disorders,Category,Lacrimal drainage system anomaly,Excretory apparatus of the lacrimal system anomaly +GARD:0019512,Orphanet,ORPHA:98609,Group of disorders,Category,EEC syndrome and related disorders,EEC syndrome and related syndrome|Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders +GARD:0019513,Orphanet,ORPHA:98610,Group of disorders,Category,Rare disorder with conjunctival involvement as a major feature, +GARD:0019514,Orphanet,ORPHA:98618,Group of disorders,Category,Rare refraction anomaly, +GARD:0019515,Orphanet,ORPHA:98621,Group of disorders,Category,Rare hyperopia and astigmatism, +GARD:0019516,Orphanet,ORPHA:98622,Group of disorders,Category,Syndromic hyperopia, +GARD:0019517,Orphanet,ORPHA:98623,Group of disorders,Category,Syndromic keratoconus, +GARD:0019518,Orphanet,ORPHA:98625,Group of disorders,Category,Superficial corneal dystrophy,Anterior corneal dystrophy +GARD:0019519,Orphanet,ORPHA:98626,Group of disorders,Category,Stromal corneal dystrophy, +GARD:0019520,Orphanet,ORPHA:98627,Group of disorders,Category,Posterior corneal dystrophy, +GARD:0019521,Orphanet,ORPHA:98628,Group of disorders,Category,Syndromic corneal dystrophy, +GARD:0019522,Orphanet,ORPHA:98631,Group of disorders,Category,Congenital malformation of the eye with glaucoma as a major feature, +GARD:0019523,Orphanet,ORPHA:98635,Group of disorders,Category,Corneodysgenesis,Corneogoniodysgenesis +GARD:0019524,Orphanet,ORPHA:98638,Group of disorders,Category,Rare disease with glaucoma as a major feature, +GARD:0019525,Orphanet,ORPHA:98639,Group of disorders,Category,Rare lens disease, +GARD:0019526,Orphanet,ORPHA:98640,Group of disorders,Category,Rare disorder with lens opacification,Rare cataract +GARD:0019527,Orphanet,ORPHA:98641,Group of disorders,Category,Syndromic cataract, +GARD:0019528,Orphanet,ORPHA:98642,Group of disorders,Category,Chromosomal anomaly with cataract, +GARD:0019529,Orphanet,ORPHA:98644,Group of disorders,Category,Metabolic disease with cataract, +GARD:0019530,Orphanet,ORPHA:98646,Group of disorders,Category,Renal disease with cataract, +GARD:0019531,Orphanet,ORPHA:98648,Group of disorders,Category,Musculoskeletal disease with cataract, +GARD:0019532,Orphanet,ORPHA:98649,Group of disorders,Category,Dentocutaneous disease with cataract, +GARD:0019533,Orphanet,ORPHA:98650,Group of disorders,Category,Craniofacial anomaly with cataract, +GARD:0019534,Orphanet,ORPHA:98652,Group of disorders,Category,Lens size anomaly, +GARD:0019535,Orphanet,ORPHA:98653,Group of disorders,Category,Lens position anomaly, +GARD:0019536,Orphanet,ORPHA:98655,Group of disorders,Category,Lens shape anomaly, +GARD:0019537,Orphanet,ORPHA:98658,Group of disorders,Category,Color-vision disease, +GARD:0019538,Orphanet,ORPHA:98661,Group of disorders,Category,Syndromic rod-cone dystrophy,Syndromic retinitis pigmentosa +GARD:0019539,Orphanet,ORPHA:98668,Group of disorders,Category,Vitreoretinopathy, +GARD:0019540,Orphanet,ORPHA:98671,Group of disorders,Category,Hereditary optic neuropathy, +GARD:0019541,Orphanet,ORPHA:98681,Group of disorders,Category,Rare disorder with strabismus, +GARD:0019542,Orphanet,ORPHA:98683,Group of disorders,Category,Syndromic disorder with strabismus,Syndrome with a symptomatic strabismus +GARD:0019543,Orphanet,ORPHA:98684,Group of disorders,Category,Craniostenosis with strabismus, +GARD:0019544,Orphanet,ORPHA:98685,Group of disorders,Category,Rare oculomotor nerve disorder, +GARD:0019545,Orphanet,ORPHA:98686,Disorder,Disease,Congenital trochlear nerve palsy,Congenital CNIV palsy|Congenital fourth cranial nerve palsy|Congenital superior oblique palsy +GARD:0019546,Orphanet,ORPHA:98687,Group of disorders,Category,Supranuclear eye movement disorder, +GARD:0019547,Orphanet,ORPHA:98688,Group of disorders,Category,Oculomotor apraxia, +GARD:0019548,Orphanet,ORPHA:98706,Group of disorders,Category,Oculocutaneous or ocular albinism, +GARD:0019549,Orphanet,ORPHA:98715,Group of disorders,Category,Uveitis, +GARD:0019550,Orphanet,ORPHA:98716,Group of disorders,Category,Heart position anomaly, +GARD:0019551,Orphanet,ORPHA:98717,Group of disorders,Category,Transposition of the great arteries and conotruncal cardiac anomaly, +GARD:0019552,Orphanet,ORPHA:98718,Group of disorders,Category,Aortic malformation, +GARD:0019553,Orphanet,ORPHA:98719,Group of disorders,Category,Pulmonary artery or pulmonary branch anomaly, +GARD:0019554,Orphanet,ORPHA:98720,Group of disorders,Category,Atrioventricular valve anomaly, +GARD:0019555,Orphanet,ORPHA:98721,Group of disorders,Category,Congenital tricuspid malformation, +GARD:0019556,Orphanet,ORPHA:98724,Group of disorders,Category,Congenital anomaly of the great arteries,"Congenital aorta, aortic arch or pulmonary arteries anomaly" +GARD:0019557,Orphanet,ORPHA:98725,Group of disorders,Category,Ascending aorta anomaly, +GARD:0019558,Orphanet,ORPHA:98727,Group of disorders,Category,Rare atrial defect and interatrial communication,Atrial defect and interauricular communication +GARD:0019559,Orphanet,ORPHA:98729,Group of disorders,Category,Congenital pulmonary veins anomaly, +GARD:0019560,Orphanet,ORPHA:98731,Group of disorders,Category,Congenital arteriovenous fistula, +GARD:0019561,Orphanet,ORPHA:98733,Group of disorders,Category,Noonan syndrome and Noonan-related syndrome, +GARD:0019562,Orphanet,ORPHA:98737,Group of disorders,Category,Genetic neurological muscular channelopathy, +GARD:0019563,Orphanet,ORPHA:98738,Group of disorders,Category,Neurological muscular channelopathy due to a genetic sodium channel defect, +GARD:0019564,Orphanet,ORPHA:98739,Group of disorders,Category,Neurological muscular channelopathy due to a genetic chloride channel defect, +GARD:0019565,Orphanet,ORPHA:98740,Group of disorders,Category,Neurological muscular channelopathy due to a genetic calcium channel defect, +GARD:0019566,Orphanet,ORPHA:98741,Group of disorders,Category,Neurological muscular channelopathy due to a genetic potassium channel defect, +GARD:0019567,Orphanet,ORPHA:98742,Group of disorders,Category,Neurological muscular channelopathy due to a genetic ryanodine receptor defect, +GARD:0019568,Orphanet,ORPHA:98743,Group of disorders,Category,Genetic neurological channelopathy of the central nervous system, +GARD:0019569,Orphanet,ORPHA:98744,Group of disorders,Category,Neurological channelopathy of the central nervous system due to a genetic sodium channel defect, +GARD:0019570,Orphanet,ORPHA:98745,Group of disorders,Category,Neurological channelopathy of the central nervous system due to a genetic calcium channel defect, +GARD:0019571,Orphanet,ORPHA:98746,Group of disorders,Category,Neurological channelopathy of the central nervous system due to a genetic potassium channel defect, +GARD:0019572,Orphanet,ORPHA:98747,Group of disorders,Category,Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect, +GARD:0019573,Orphanet,ORPHA:98748,Group of disorders,Category,Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect, +GARD:0019574,Orphanet,ORPHA:98749,Group of disorders,Category,Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect, +GARD:0019575,Orphanet,ORPHA:98750,Group of disorders,Category,Autoimmune neurological channelopathy, +GARD:0019576,Orphanet,ORPHA:98793,Subtype of disorder,Etiological subtype,Prader-Willi syndrome due to paternal 15q11q13 deletion, +GARD:0019577,Orphanet,ORPHA:98794,Subtype of disorder,Etiological subtype,Angelman syndrome due to maternal 15q11q13 deletion,Angelman syndrome due to maternal monosomy 15q11q13 +GARD:0019578,Orphanet,ORPHA:98795,Subtype of disorder,Etiological subtype,Angelman syndrome due to paternal uniparental disomy of chromosome 15,UPD(15)pat +GARD:0019579,Orphanet,ORPHA:98797,Disorder,Malformation syndrome,Isochromosomy Yp, +GARD:0019580,Orphanet,ORPHA:98798,Disorder,Malformation syndrome,Isochromosomy Yq, +GARD:0019581,Orphanet,ORPHA:98815,Subtype of disorder,Clinical subtype,"Benign childhood occipital epilepsy, Panayiotopoulos type",Early-onset benign childhood occipital epilepsy|Panayiotopoulos syndrome +GARD:0019582,Orphanet,ORPHA:98816,Subtype of disorder,Clinical subtype,"Benign childhood occipital epilepsy, Gastaut type",Late-onset benign childhood occipital epilepsy +GARD:0019583,Orphanet,ORPHA:98824,Disorder,Disease,Atypical chronic myeloid leukemia,Subacute myeloid leukemia +GARD:0019584,Orphanet,ORPHA:98825,Disorder,Disease,Unclassified myelodysplastic/myeloproliferative disease,Unclassified mixed myelodysplastic/myeloproliferatic syndrome +GARD:0019585,Orphanet,ORPHA:98826,Disorder,Disease,Refractory anemia, +GARD:0019586,Orphanet,ORPHA:98827,Disorder,Disease,Unclassified myelodysplastic syndrome, +GARD:0019587,Orphanet,ORPHA:98831,Disorder,Disease,Acute myeloid leukemia with 11q23 abnormalities,AML with 11q23 abnormalities +GARD:0019588,Orphanet,ORPHA:98832,Disorder,Disease,Acute myeloid leukemia with minimal differentiation,AML M0|Minimally differentiated acute myeloblastic leukemia +GARD:0019589,Orphanet,ORPHA:98838,Disorder,Disease,Primary mediastinal large B-cell lymphoma,Large cell lymphoma of the mediastinum|Med-DLBCL|Mediastinal diffuse large-cell lymphoma with sclerosis|Primary mediastinal clear cell lymphoma of B-cell type +GARD:0019590,Orphanet,ORPHA:98839,Disorder,Disease,Intravascular large B-cell lymphoma,Angioendotheliomatosis proliferans systemisata|Angiotropic large cell lymphoma|Intravascular lymphomatosis|Malignant angioendotheliomatosis|Tappeiner-Pfleger disease +GARD:0019591,Orphanet,ORPHA:98843,Subtype of disorder,Histopathological subtype,"Classic Hodgkin lymphoma, nodular sclerosis type", +GARD:0019592,Orphanet,ORPHA:98844,Subtype of disorder,Histopathological subtype,"Classic Hodgkin lymphoma, mixed cellularity type", +GARD:0019593,Orphanet,ORPHA:98845,Subtype of disorder,Histopathological subtype,"Classic Hodgkin lymphoma, lymphocyte-rich type", +GARD:0019594,Orphanet,ORPHA:98846,Subtype of disorder,Histopathological subtype,"Classic Hodgkin lymphoma, lymphocyte-depleted type", +GARD:0019595,Orphanet,ORPHA:98848,Disorder,Disease,Indolent systemic mastocytosis, +GARD:0019596,Orphanet,ORPHA:98849,Disorder,Disease,Systemic mastocytosis with associated hematologic neoplasm,SM-AHN|SM-AHNMD|Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease +GARD:0019597,Orphanet,ORPHA:98850,Disorder,Disease,Aggressive systemic mastocytosis, +GARD:0019598,Orphanet,ORPHA:98851,Disorder,Disease,Mast cell leukemia, +GARD:0019599,Orphanet,ORPHA:98888,Group of disorders,Clinical group,X-linked complex spastic paraplegia,Complex X-linked HSP|Complex X-linked SPG|Complicated X-linked HSP|Complicated X-linked SPG|X-linked complicated spastic paraplegia +GARD:0019600,Orphanet,ORPHA:98910,Group of disorders,Clinical group,Alpha-crystallinopathy,CRYAB-related myofobrillar myopathy +GARD:0019601,Orphanet,ORPHA:98917,Disorder,Disease,Acute motor and sensory axonal neuropathy,AMSAN|Acute motor-sensory axonal GBS|Acute motor-sensory axonal Guillain-Barré syndrome +GARD:0019602,Orphanet,ORPHA:98918,Disorder,Disease,Acute motor axonal neuropathy,AMAN|Acute pure motor GBS|Acute pure motor Guillain-Barré syndrome +GARD:0019603,Orphanet,ORPHA:98922,Disorder,Morphological anomaly,Blake pouch cyst, +GARD:0019604,Orphanet,ORPHA:98933,Subtype of disorder,Clinical subtype,"Multiple system atrophy, parkinsonian type","MSA, parkinsonian type|MSA-p" +GARD:0019605,Orphanet,ORPHA:98946,Disorder,Morphological anomaly,Coloboma of eyelid, +GARD:0019606,Orphanet,ORPHA:98948,Subtype of disorder,Clinical subtype,Congenital symblepharon, +GARD:0019607,Orphanet,ORPHA:98950,Subtype of disorder,Clinical subtype,Partial cryptophthalmia, +GARD:0019608,Orphanet,ORPHA:98951,Subtype of disorder,Clinical subtype,Inverse Marcus-Gunn phenomenon, +GARD:0019609,Orphanet,ORPHA:98958,Disorder,Disease,Climatic droplet keratopathy,Honey-droplet corneal dystrophy +GARD:0019610,Orphanet,ORPHA:98975,Disorder,Disease,Congenital hereditary endothelial dystrophy type I,Autosomal dominant CHED|Autosomal dominant congenital hereditary endothelial dystrophy|CHED1|CHEDI|Congenital hereditary endothelial dystrophy type 1 +GARD:0019611,Orphanet,ORPHA:98981,Subtype of disorder,Clinical subtype,Essential iris atrophy, +GARD:0019612,Orphanet,ORPHA:99003,Disorder,Disease,Multifocal pattern dystrophy simulating fundus flavimaculatus,Multifocal pattern dystrophy simulating Stargardt disease +GARD:0019613,Orphanet,ORPHA:99004,Disorder,Disease,Fundus pulverulentus, +GARD:0019614,Orphanet,ORPHA:99042,Subtype of disorder,Clinical subtype,Congenitally uncorrected transposition of the great arteries with coarctation,Congenitally uncorrected transposition of the great vessels with coarctation|TGA with coarctation +GARD:0019615,Orphanet,ORPHA:99043,Subtype of disorder,Clinical subtype,Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis,"DORV with subaortic or doubly committed VSD with pulmonary stenosis|DORV, Fallot type|Double outlet right ventricle, Fallot type" +GARD:0019616,Orphanet,ORPHA:99045,Subtype of disorder,Clinical subtype,Double outlet right ventricle with subpulmonary ventricular septal defect,DORV with subpulmonary VSD|DORV-TGA|Double outlet right ventricle with transposition of the great arteries|Taussig-Bing syndrome +GARD:0019617,Orphanet,ORPHA:99046,Subtype of disorder,Clinical subtype,Double outlet right ventricle with non-committed subpulmonary ventricular septal defect,DORV with non-committed subpulmonary VSD +GARD:0019618,Orphanet,ORPHA:99048,Disorder,Malformation syndrome,Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome,"APV/PDA, non-Fallot type" +GARD:0019619,Orphanet,ORPHA:99049,Disorder,Morphological anomaly,Pulmonary artery coming from patent ductus arteriosus, +GARD:0019620,Orphanet,ORPHA:99052,Subtype of disorder,Clinical subtype,Discrete fibromuscular subaortic stenosis, +GARD:0019621,Orphanet,ORPHA:99053,Subtype of disorder,Clinical subtype,Tunnel subaortic stenosis, +GARD:0019622,Orphanet,ORPHA:99054,Subtype of disorder,Clinical subtype,Valvular pulmonary stenosis, +GARD:0019623,Orphanet,ORPHA:99055,Disorder,Morphological anomaly,Congenital anomaly of the tricuspid valve chordae,Congenital anomaly of tricuspid chordae tendineae|Congenital anomaly of tricuspid tendinous chords +GARD:0019624,Orphanet,ORPHA:99056,Disorder,Morphological anomaly,Parachute tricuspid valve, +GARD:0019625,Orphanet,ORPHA:99058,Disorder,Morphological anomaly,Hypoplasia of the mitral valve annulus, +GARD:0019626,Orphanet,ORPHA:99059,Disorder,Morphological anomaly,Congenital supravalvular mitral ring, +GARD:0019627,Orphanet,ORPHA:99060,Disorder,Morphological anomaly,Congenital unguarded mitral orifice, +GARD:0019628,Orphanet,ORPHA:99061,Disorder,Morphological anomaly,Accessory mitral valve tissue, +GARD:0019629,Orphanet,ORPHA:99062,Disorder,Morphological anomaly,Mitral valve agenesis, +GARD:0019630,Orphanet,ORPHA:99063,Disorder,Malformation syndrome,Shone complex, +GARD:0019631,Orphanet,ORPHA:99064,Subtype of disorder,Clinical subtype,Straddling and/or overriding mitral valve, +GARD:0019632,Orphanet,ORPHA:99070,Subtype of disorder,Clinical subtype,Aorto-right ventricular tunnel, +GARD:0019633,Orphanet,ORPHA:99071,Subtype of disorder,Clinical subtype,Aorto-left ventricular tunnel, +GARD:0019634,Orphanet,ORPHA:99072,Disorder,Morphological anomaly,Congenital patent ductus arteriosus aneurysm, +GARD:0019635,Orphanet,ORPHA:99075,Disorder,Morphological anomaly,Encircling double aortic arch, +GARD:0019636,Orphanet,ORPHA:99076,Disorder,Morphological anomaly,Persistent fifth aortic arch, +GARD:0019637,Orphanet,ORPHA:99077,Disorder,Morphological anomaly,Kommerell diverticulum, +GARD:0019638,Orphanet,ORPHA:99078,Disorder,Morphological anomaly,Neuhauser anomaly, +GARD:0019639,Orphanet,ORPHA:99079,Disorder,Morphological anomaly,Cervical aortic arch, +GARD:0019640,Orphanet,ORPHA:99081,Disorder,Morphological anomaly,Right aortic arch, +GARD:0019641,Orphanet,ORPHA:99082,Disorder,Morphological anomaly,Dysphagia lusoria, +GARD:0019642,Orphanet,ORPHA:99083,Disorder,Morphological anomaly,Pulmonary artery hypoplasia,PAH|Unilateral Pulmonary Artery Hypoplasia +GARD:0019643,Orphanet,ORPHA:99087,Disorder,Morphological anomaly,Coronary ostial stenosis or atresia,COSA|Congenital coronary arterial orifice stenosis or atresia|Congenital stenosis or atresia of a coronary ostium +GARD:0019644,Orphanet,ORPHA:99089,Disorder,Morphological anomaly,Abnormal number of coronary ostia, +GARD:0019645,Orphanet,ORPHA:99090,Disorder,Morphological anomaly,Malposition of a coronary ostium, +GARD:0019646,Orphanet,ORPHA:99094,Disorder,Morphological anomaly,Laubry-Pezzi syndrome,VSD with aortic insufficiency|Ventricular septal defect with aortic insufficiency +GARD:0019647,Orphanet,ORPHA:99095,Disorder,Morphological anomaly,Congenital Gerbode defect,Left ventricular-to-right atrial communication +GARD:0019648,Orphanet,ORPHA:99100,Disorder,Morphological anomaly,Juxtaposition of the atrial appendages,Juxtaposition of the atrial auricles +GARD:0019649,Orphanet,ORPHA:99101,Disorder,Morphological anomaly,Ectasia of the right atrial appendage,Dilatation of the right atrial appendage|Dilatation of the right atrial auricle|Ectasia of the right atrial auricle +GARD:0019650,Orphanet,ORPHA:99102,Disorder,Morphological anomaly,Ectasia of the left atrial appendage,Dilatation of the left atrial appendage|Dilatation of the left auricle|Ectasia of the left auricle +GARD:0019651,Orphanet,ORPHA:99107,Disorder,Morphological anomaly,Atrial septal aneurysm, +GARD:0019652,Orphanet,ORPHA:99109,Disorder,Morphological anomaly,Persistent left superior vena cava connecting through coronary sinus to left-sided atrium,Persistent left SVC connecting through coronary sinus to left-sided atrium +GARD:0019653,Orphanet,ORPHA:99110,Disorder,Morphological anomaly,Right superior vena cava connecting to left-sided atrium,Right SVC connecting to left-sided atrium|Right superior caval vein connecting to left-sided atrium +GARD:0019654,Orphanet,ORPHA:99111,Disorder,Morphological anomaly,Persistent left superior vena cava connecting to the roof of left-sided atrium,Persistent left SVC connecting to left-sided atrium|Persistent left SVC connecting to the roof of left-sided atrium|Persistent left superior vena cava connecting to left-sided atrium +GARD:0019655,Orphanet,ORPHA:99112,Disorder,Morphological anomaly,Absence of innominate vein,Absence of brachiocephalic vein +GARD:0019656,Orphanet,ORPHA:99113,Disorder,Morphological anomaly,Subaortic course of innominate vein,Subaortic course of brachiocephalic vein +GARD:0019657,Orphanet,ORPHA:99114,Disorder,Morphological anomaly,Agenesis of the superior vena cava,Absence of the SVC|Absence of the superior caval vein|Absence of the superior vena cava|Agenesis of the SVC|Agenesis of the superior caval vein +GARD:0019658,Orphanet,ORPHA:99117,Disorder,Morphological anomaly,Coronary sinus stenosis, +GARD:0019659,Orphanet,ORPHA:99118,Disorder,Morphological anomaly,Coronary sinus atresia, +GARD:0019660,Orphanet,ORPHA:99119,Disorder,Morphological anomaly,Right inferior vena cava connecting to left-sided atrium,Right IVC connecting to left-sided atrium|Right inferior caval vein connecting to left-sided atrium +GARD:0019661,Orphanet,ORPHA:99120,Disorder,Morphological anomaly,Persistent eustachian valve, +GARD:0019662,Orphanet,ORPHA:99121,Disorder,Morphological anomaly,Azygos continuation of the inferior vena cava,Azygos continuation of the IVC|Azygos continuation of the inferior caval vein|Inferior vena cava interruption with azygos continuation +GARD:0019663,Orphanet,ORPHA:99122,Disorder,Morphological anomaly,Congenital stenosis of the inferior vena cava,Congenital stenosis of the IVC|Congenital stenosis of the inferior caval vein +GARD:0019664,Orphanet,ORPHA:99123,Disorder,Morphological anomaly,Inferior vena cava interruption without azygos continuation,IVC interruption|Inferior caval vein interruption +GARD:0019665,Orphanet,ORPHA:99124,Disorder,Morphological anomaly,Congenital partial pulmonary venous return anomaly, +GARD:0019666,Orphanet,ORPHA:99129,Disorder,Morphological anomaly,Congenital complete agenesis of pericardium, +GARD:0019667,Orphanet,ORPHA:99130,Disorder,Morphological anomaly,Congenital partial agenesis of pericardium, +GARD:0019668,Orphanet,ORPHA:99131,Disorder,Morphological anomaly,Pleuro-pericardial cyst, +GARD:0019669,Orphanet,ORPHA:99138,Disorder,Disease,Hemolytic anemia due to erythrocyte adenosine deaminase overproduction, +GARD:0019670,Orphanet,ORPHA:99139,Disorder,Disease,Unstable hemoglobin disease, +GARD:0019671,Orphanet,ORPHA:99169,Disorder,Morphological anomaly,Epiblepharon, +GARD:0019672,Orphanet,ORPHA:99170,Disorder,Morphological anomaly,Tarsal kink syndrome, +GARD:0019673,Orphanet,ORPHA:99171,Disorder,Morphological anomaly,Isolated congenital ectropion, +GARD:0019674,Orphanet,ORPHA:99172,Disorder,Morphological anomaly,Euryblepharon, +GARD:0019675,Orphanet,ORPHA:99176,Disorder,Morphological anomaly,Congenital eyelid retraction, +GARD:0019676,Orphanet,ORPHA:99226,Subtype of disorder,Etiological subtype,Monosomy X, +GARD:0019677,Orphanet,ORPHA:99228,Subtype of disorder,Etiological subtype,Mosaic monosomy X, +GARD:0019678,Orphanet,ORPHA:99324,Disorder,Malformation syndrome,Paternal uniparental disomy of chromosome 13,UPD(13)pat +GARD:0019679,Orphanet,ORPHA:99330,Disorder,Malformation syndrome,"49,XYYYY syndrome", +GARD:0019680,Orphanet,ORPHA:99408,Group of disorders,Clinical group,Pituitary adenoma, +GARD:0019681,Orphanet,ORPHA:99413,Subtype of disorder,Etiological subtype,Turner syndrome due to structural X chromosome anomalies, +GARD:0019682,Orphanet,ORPHA:99647,Disorder,Disease,Cheirospondyloenchondromatosis,Generalized enchondromatosis with platyspondyly +GARD:0019683,Orphanet,ORPHA:99688,Disorder,Malformation syndrome,Dermotrichic syndrome, +GARD:0019684,Orphanet,ORPHA:99701,Disorder,Disease,Mesial temporal lobe epilepsy with hippocampal sclerosis,HS-MTLE|Hippocampal sclerosis-related mesial temporal lobe epilepsy|MTLE-HS +GARD:0019685,Orphanet,ORPHA:99704,Disorder,Disease,Early-onset obesity-hyperphagia-severe developmental delay syndrome,OBHD +GARD:0019686,Orphanet,ORPHA:99739,Group of disorders,Category,Rare familial disorder with hypertrophic cardiomyopathy,Rare familial disorder with hypertrophic obstructive cardiomyopathy|Rare familial disorder with hypertrophic subaortic stenosis +GARD:0019687,Orphanet,ORPHA:99771,Disorder,Morphological anomaly,Bifid uvula,Bifidity of the uvula|Uvular cleft +GARD:0019688,Orphanet,ORPHA:99824,Disorder,Disease,Lassa fever,LF|Lassa hemorrhagic fever +GARD:0019689,Orphanet,ORPHA:99825,Disorder,Disease,Nipah virus disease,Nipah encephalitis|Nipah fever +GARD:0019690,Orphanet,ORPHA:99827,Disorder,Disease,Crimean-Congo hemorrhagic fever,CCHF|Congo fever|Congo hemorrhagic fever|Crimean hemorrhagic fever +GARD:0019691,Orphanet,ORPHA:99856,Disorder,Morphological anomaly,Primary syringomyelia,Congenital syringomyelia +GARD:0019692,Orphanet,ORPHA:99857,Disorder,Disease,Secondary syringomyelia, +GARD:0019693,Orphanet,ORPHA:99858,Subtype of disorder,Clinical subtype,Idiopathic syringomyelia, +GARD:0019694,Orphanet,ORPHA:99861,Disorder,Disease,Precursor T-cell acute lymphoblastic leukemia,Precursor T-cell acute lymphoblastic leukemia/lymphoma|Precursor T-cell acute lymphocytic leukemia|Precursor T-cell acute lymphocytic leukemia/lymphoma|T-ALL +GARD:0019695,Orphanet,ORPHA:99868,Disorder,Disease,Thymic carcinoma,Malignant thymoma +GARD:0019696,Orphanet,ORPHA:99869,Disorder,Disease,Thymic neuroendocrine carcinoma, +GARD:0019697,Orphanet,ORPHA:99887,Subtype of disorder,Clinical subtype,Acute megakaryoblastic leukemia in Down syndrome,DS-AMKL +GARD:0019698,Orphanet,ORPHA:99889,Disorder,Disease,Cushing syndrome due to ectopic ACTH secretion,Adrenocorticotropic hormone secretion syndrome|Ectopic ACTH secreting tumor|Ectopic Cushing syndrome|Occult ectopic ACTH secretion|Paraneoplastic Cushing syndrome +GARD:0019699,Orphanet,ORPHA:99892,Group of disorders,Clinical group,ACTH-dependent Cushing syndrome,ACTH-dependent CS|Adrenocorticotropic hormone-dependent Cushing syndrome|Corticotropin-dependent Cushing syndrome +GARD:0019700,Orphanet,ORPHA:99893,Group of disorders,Clinical group,ACTH-independent Cushing syndrome,Adrenal Cushing syndrome|Adrenocorticotropic hormone-independent Cushing syndrome|Corticotropin-independent Cushing syndrome +GARD:0019701,Orphanet,ORPHA:99903,Subtype of disorder,Etiological subtype,Spirillary rat-bite fever,Sodoku +GARD:0019702,Orphanet,ORPHA:99905,Subtype of disorder,Etiological subtype,Streptobacillary rat-bite fever, +GARD:0019703,Orphanet,ORPHA:99907,Disorder,Disease,House allergic alveolitis, +GARD:0019704,Orphanet,ORPHA:99909,Group of disorders,Clinical group,Occupational allergic alveolitis, +GARD:0019705,Orphanet,ORPHA:99912,Disorder,Disease,Malignant dysgerminomatous germ cell tumor of the ovary,Dysgerminomatous germ cell cancer of the ovary|Malignant ovarian dysgerminoma +GARD:0019706,Orphanet,ORPHA:99913,Group of disorders,Category,Extragonadal non-dysgerminomatous germ cell tumor, +GARD:0019707,Orphanet,ORPHA:99915,Disorder,Disease,Maligant granulosa cell tumor of the ovary,Granulosa cell cancer|Granulosa cell malignant tumor +GARD:0019708,Orphanet,ORPHA:99917,Disorder,Disease,"Theca steroid-producing cell malignant tumor of ovary, not further specified","Theca (steroid-producing) cell cancer, not further specified" +GARD:0019709,Orphanet,ORPHA:99918,Subtype of disorder,Etiological subtype,Streptococcal toxic-shock syndrome,Streptococcal TSS +GARD:0019710,Orphanet,ORPHA:99919,Subtype of disorder,Etiological subtype,Staphylococcal toxic-shock syndrome,Staphylococcal TSS +GARD:0019711,Orphanet,ORPHA:99925,Disorder,Disease,Invasive mole, +GARD:0019712,Orphanet,ORPHA:99926,Disorder,Disease,Gestational choriocarcinoma, +GARD:0019713,Orphanet,ORPHA:99930,Disorder,Disease,Secondary pulmonary hemosiderosis, +GARD:0019714,Orphanet,ORPHA:99932,Subtype of disorder,Clinical subtype,Heiner syndrome,Cow's milk hypersensitivity +GARD:0019715,Orphanet,ORPHA:99933,Subtype of disorder,Clinical subtype,Pleuropulmonary blastoma type 1, +GARD:0019716,Orphanet,ORPHA:99934,Subtype of disorder,Clinical subtype,Pleuropulmonary blastoma type 2, +GARD:0019717,Orphanet,ORPHA:99935,Subtype of disorder,Clinical subtype,Pleuropulmonary blastoma type 3, +GARD:0019718,Orphanet,ORPHA:99965,Disorder,Disease,O'Sullivan-McLeod syndrome, +GARD:0019719,Orphanet,ORPHA:99969,Subtype of disorder,Histopathological subtype,Pleomorphic liposarcoma,PLS +GARD:0019720,Orphanet,ORPHA:99970,Subtype of disorder,Histopathological subtype,Dedifferentiated liposarcoma,DDLS +GARD:0019721,Orphanet,ORPHA:99971,Subtype of disorder,Histopathological subtype,Well-differentiated liposarcoma,ALT|Atypical lipoma|Atypical lipomatous tumor|WDLS +GARD:0019722,Orphanet,ORPHA:99981,Disorder,Disease,Apnea of prematurity, +GARD:0019723,Orphanet,ORPHA:99983,Group of disorders,Category,Cutaneous myiasis, +GARD:0019724,Orphanet,ORPHA:99989,Disorder,Disease,Intermediate DEND syndrome,"Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form" +GARD:0019725,Orphanet,ORPHA:99990,Subtype of disorder,Clinical subtype,Brill-Zinsser disease,Brill disease|Recrudescent typhus +GARD:0019726,Orphanet,ORPHA:99991,Subtype of disorder,Clinical subtype,Relapsing epidemic typhus, +GARD:0019727,Orphanet,ORPHA:99994,Subtype of disorder,Clinical subtype,Complex regional pain syndrome type 2,Causalgia +GARD:0019728,Orphanet,ORPHA:100000,Subtype of disorder,Clinical subtype,Reticular perineurioma, +GARD:0019729,Orphanet,ORPHA:100001,Subtype of disorder,Clinical subtype,Sclerosing perineurioma, +GARD:0019730,Orphanet,ORPHA:100002,Disorder,Disease,Extraneural perineurioma,Soft tissue perineurioma +GARD:0019731,Orphanet,ORPHA:100011,Disorder,Malformation syndrome,Lissencephaly with cerebellar hypoplasia type A, +GARD:0019732,Orphanet,ORPHA:100012,Disorder,Malformation syndrome,Lissencephaly with cerebellar hypoplasia type B, +GARD:0019733,Orphanet,ORPHA:100013,Disorder,Malformation syndrome,Lissencephaly with cerebellar hypoplasia type C, +GARD:0019734,Orphanet,ORPHA:100014,Disorder,Malformation syndrome,Lissencephaly with cerebellar hypoplasia type D, +GARD:0019735,Orphanet,ORPHA:100015,Disorder,Malformation syndrome,Lissencephaly with cerebellar hypoplasia type E, +GARD:0019736,Orphanet,ORPHA:100016,Disorder,Malformation syndrome,Lissencephaly with cerebellar hypoplasia type F, +GARD:0019737,Orphanet,ORPHA:100019,Subtype of disorder,Clinical subtype,Refractory anemia with excess blasts type 1,RAEB-1 +GARD:0019738,Orphanet,ORPHA:100020,Subtype of disorder,Clinical subtype,Refractory anemia with excess blasts type 2,RAEB-2 +GARD:0019739,Orphanet,ORPHA:100021,Subtype of disorder,Clinical subtype,Primary plasmacytoma of the bone, +GARD:0019740,Orphanet,ORPHA:100022,Subtype of disorder,Clinical subtype,Extramedullary soft tissue plasmacytoma, +GARD:0019741,Orphanet,ORPHA:100024,Subtype of disorder,Clinical subtype,Mu-heavy chain disease,mu-HCD +GARD:0019742,Orphanet,ORPHA:100025,Subtype of disorder,Clinical subtype,Alpha-heavy chain disease,Alpha-HCD|IPSID|Immunoproliferative small intestinal disease|Mediterranean lymphoma +GARD:0019743,Orphanet,ORPHA:100035,Disorder,Disease,Solitary necrotic nodule of the liver,Hepatic solitary necrotic nodule +GARD:0019744,Orphanet,ORPHA:100047,Disorder,Morphological anomaly,Esophageal duplication cyst, +GARD:0019745,Orphanet,ORPHA:100048,Disorder,Morphological anomaly,Tubular duplication of the esophagus, +GARD:0019746,Orphanet,ORPHA:100049,Group of disorders,Category,Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies,Primary ILD specific to childhood due to pulmonary surfactant protein anomalies +GARD:0019747,Orphanet,ORPHA:100055,Subtype of disorder,Clinical subtype,Acquired angioedema type 2,AAE 2|AAE II|Acquired angioneurotic edema type 2 +GARD:0019748,Orphanet,ORPHA:100056,Subtype of disorder,Clinical subtype,Acquired angioedema type 1,Acquired angioneurotic edema type 1 +GARD:0019749,Orphanet,ORPHA:100073,Subtype of disorder,Clinical subtype,Neurogenic thoracic outlet syndrome,NTOS|Neurogenic TOS|Neurogenic cervical rib syndrome|Neurogenic costoclavicular syndrome|Neurogenic thoracic outlet compression syndrome +GARD:0019750,Orphanet,ORPHA:100075,Disorder,Disease,Neuroendocrine tumor of stomach,GNET|Gastric NET|Gastric neuroendocrine tumor|NET of stomach +GARD:0019751,Orphanet,ORPHA:100076,Group of disorders,Category,Duodenal neuroendocrine tumor, +GARD:0019752,Orphanet,ORPHA:100077,Group of disorders,Category,Jejunal neuroendocrine tumor,Jejunal neuroendocrine neoplasm +GARD:0019753,Orphanet,ORPHA:100078,Disorder,Disease,Ileal neuroendocrine tumor,Ileal neuroendocrine neoplasm +GARD:0019754,Orphanet,ORPHA:100079,Disorder,Disease,Neuroendocrine neoplasm of appendix,Appendiceal NEN|Appendiceal neuroendocrine neoplasm|NEN of appendix +GARD:0019755,Orphanet,ORPHA:100080,Disorder,Disease,Neuroendocrine tumor of the colon,Colonic NET|NET of the colon|Neuroendocrine neoplasm of the colon +GARD:0019756,Orphanet,ORPHA:100081,Disorder,Disease,Neuroendocrine tumor of the rectum,NET of the rectum|Rectal NET|Rectal neuroendocrine tumor +GARD:0019757,Orphanet,ORPHA:100082,Disorder,Disease,Neuroendocrine tumor of anal canal,NET of anal canal +GARD:0019758,Orphanet,ORPHA:100083,Disorder,Disease,Laryngeal neuroendocrine tumor, +GARD:0019759,Orphanet,ORPHA:100084,Disorder,Disease,Middle ear neuroendocrine tumor, +GARD:0019760,Orphanet,ORPHA:100085,Disorder,Disease,Primary hepatic neuroendocrine carcinoma, +GARD:0019761,Orphanet,ORPHA:100086,Disorder,Disease,Gallbladder neuroendocrine tumor, +GARD:0019762,Orphanet,ORPHA:100087,Group of disorders,Category,Thyroid tumor, +GARD:0019763,Orphanet,ORPHA:100088,Group of disorders,Category,Thyroid carcinoma, +GARD:0019764,Orphanet,ORPHA:100090,Group of disorders,Category,Rare parathyroid tumor, +GARD:0019765,Orphanet,ORPHA:100091,Group of disorders,Category,Adrenal/paraganglial tumor, +GARD:0019766,Orphanet,ORPHA:100094,Group of disorders,Category,Multiple polyglandular tumor, +GARD:0019767,Orphanet,ORPHA:100100,Group of disorders,Category,Thymic tumor, +GARD:0019768,Orphanet,ORPHA:100101,Group of disorders,Category,Neuroendocrine tumor with other location, +GARD:0019769,Orphanet,ORPHA:100974,Disorder,Disease,FRAXF syndrome, +GARD:0019770,Orphanet,ORPHA:100979,Group of disorders,Clinical group,Autosomal dominant complex spastic paraplegia,Autosomal dominant complex HSP|Autosomal dominant complex SPG|Autosomal dominant complicated HSP|Autosomal dominant complicated SPG|Autosomal dominant complicated spastic paraplegia +GARD:0019771,Orphanet,ORPHA:100980,Group of disorders,Clinical group,Autosomal dominant pure spastic paraplegia,Autosomal dominant pure HSP|Autosomal dominant pure SPG|Autosomal dominant uncomplicated HSP|Autosomal dominant uncomplicated SPG|Autosomal dominant uncomplicated spastic paraplegia +GARD:0019772,Orphanet,ORPHA:100981,Group of disorders,Clinical group,Autosomal recessive complex spastic paraplegia,Autosomal recessive complex HSP|Autosomal recessive complex SPG|Autosomal recessive complicated HSP|Autosomal recessive complicated SPG|Autosomal recessive complicated spastic paraplegia +GARD:0019773,Orphanet,ORPHA:100982,Group of disorders,Clinical group,Autosomal recessive pure spastic paraplegia,Autosomal recessive pure HSP|Autosomal recessive pure SPG|Autosomal recessive uncomplicated HSP|Autosomal recessive uncomplicated SPG|Autosomal recessive uncomplicated spastic paraplegia +GARD:0019774,Orphanet,ORPHA:101023,Disorder,Morphological anomaly,Cleft hard palate, +GARD:0019775,Orphanet,ORPHA:101029,Subtype of disorder,Clinical subtype,Sub-cortical nodular heterotopia, +GARD:0019776,Orphanet,ORPHA:101043,Subtype of disorder,Clinical subtype,Congenital aortic valve dysplasia, +GARD:0019777,Orphanet,ORPHA:101071,Subtype of disorder,Clinical subtype,Unilateral hemispheric polymicrogyria, +GARD:0019778,Orphanet,ORPHA:101096,Disorder,Disease,Aregenerative anemia, +GARD:0019779,Orphanet,ORPHA:101104,Subtype of disorder,Clinical subtype,Marin-Amat syndrome, +GARD:0019780,Orphanet,ORPHA:101206,Disorder,Malformation syndrome,Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome,"APV/ADA, Fallot type|Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome|PVA/ADA, Fallot type" +GARD:0019781,Orphanet,ORPHA:101334,Disorder,Disease,African tick typhus, +GARD:0019782,Orphanet,ORPHA:101435,Group of disorders,Category,Rare genetic eye disease,Rare genetic ophthalmologic disease +GARD:0019783,Orphanet,ORPHA:101685,Disorder,Disease,Rare non-syndromic intellectual disability,Rare NSID +GARD:0019784,Orphanet,ORPHA:101932,Disorder,Morphological anomaly,Anomaly of the mitral subvalvular apparatus, +GARD:0019785,Orphanet,ORPHA:101934,Group of disorders,Category,Genetic cardiac rhythm disease, +GARD:0019786,Orphanet,ORPHA:101936,Group of disorders,Category,Rare gastroesophageal disease, +GARD:0019787,Orphanet,ORPHA:101937,Group of disorders,Category,Rare pancreatic disease, +GARD:0019788,Orphanet,ORPHA:101938,Group of disorders,Category,Rare vascular liver disease, +GARD:0019789,Orphanet,ORPHA:101939,Group of disorders,Category,Rare parenchymal liver disease, +GARD:0019790,Orphanet,ORPHA:101940,Group of disorders,Category,Rare metabolic liver disease, +GARD:0019791,Orphanet,ORPHA:101941,Group of disorders,Category,Rare biliary tract disease, +GARD:0019792,Orphanet,ORPHA:101943,Group of disorders,Category,Rare hepatic and biliary tract tumor, +GARD:0019793,Orphanet,ORPHA:101944,Group of disorders,Category,Rare pulmonary disease, +GARD:0019794,Orphanet,ORPHA:101945,Group of disorders,Category,Rare bronchopulmonary tumor, +GARD:0019795,Orphanet,ORPHA:101950,Group of disorders,Category,Rare eye tumor, +GARD:0019796,Orphanet,ORPHA:101952,Group of disorders,Category,Rare diabetes mellitus, +GARD:0019797,Orphanet,ORPHA:101953,Group of disorders,Category,Rare dyslipidemia, +GARD:0019798,Orphanet,ORPHA:101954,Group of disorders,Category,Rare adrenal disease, +GARD:0019799,Orphanet,ORPHA:101955,Group of disorders,Category,Rare thyroid disease, +GARD:0019800,Orphanet,ORPHA:101956,Group of disorders,Category,Polyendocrinopathy, +GARD:0019801,Orphanet,ORPHA:101957,Group of disorders,Category,Pituitary deficiency, +GARD:0019802,Orphanet,ORPHA:101958,Group of disorders,Category,Primary adrenal insufficiency, +GARD:0019803,Orphanet,ORPHA:101959,Group of disorders,Category,Chronic primary adrenal insufficiency,CPAI|Chronic adrenocorticoid insufficiency +GARD:0019804,Orphanet,ORPHA:101960,Group of disorders,Category,Genetic chronic primary adrenal insufficiency, +GARD:0019805,Orphanet,ORPHA:101963,Group of disorders,Category,Acquired chronic primary adrenal insufficiency, +GARD:0019806,Orphanet,ORPHA:101972,Group of disorders,Clinical group,Combined T and B cell immunodeficiency, +GARD:0019807,Orphanet,ORPHA:101977,Group of disorders,Category,Immunodeficiency predominantly affecting antibody production, +GARD:0019808,Orphanet,ORPHA:101985,Group of disorders,Category,Quantitative and/or qualitative congenital phagocyte defect, +GARD:0019809,Orphanet,ORPHA:101987,Group of disorders,Category,Constitutional neutropenia, +GARD:0019810,Orphanet,ORPHA:101988,Group of disorders,Category,Primary immunodeficiency due to a defect in innate immunity, +GARD:0019811,Orphanet,ORPHA:101992,Group of disorders,Category,Immunodeficiency due to a complement cascade protein anomaly, +GARD:0019812,Orphanet,ORPHA:101995,Group of disorders,Category,Periodic fever syndrome, +GARD:0019813,Orphanet,ORPHA:101997,Group of disorders,Category,Primary immunodeficiency, +GARD:0019814,Orphanet,ORPHA:101998,Group of disorders,Category,Rare epilepsy, +GARD:0019815,Orphanet,ORPHA:102000,Group of disorders,Category,Medullar disease, +GARD:0019816,Orphanet,ORPHA:102002,Group of disorders,Category,Rare ataxia, +GARD:0019817,Orphanet,ORPHA:102003,Group of disorders,Category,Rare movement disorder, +GARD:0019818,Orphanet,ORPHA:102005,Group of disorders,Category,Brain inflammatory disease, +GARD:0019819,Orphanet,ORPHA:102006,Group of disorders,Category,Neurovascular malformation, +GARD:0019820,Orphanet,ORPHA:102010,Group of disorders,Category,Other syndrome with lissencephaly as a major feature, +GARD:0019821,Orphanet,ORPHA:102011,Group of disorders,Clinical group,Lissencephaly type 3, +GARD:0019822,Orphanet,ORPHA:102012,Group of disorders,Clinical group,Pure hereditary spastic paraplegia,Pure HSP|Pure SPG|Pure familial spastic paraplegia|Uncomplicated HSP|Uncomplicated SPG|Uncomplicated familial spastic paraplegia|Uncomplicated hereditary spastic paraplegia +GARD:0019823,Orphanet,ORPHA:102013,Group of disorders,Clinical group,Complex hereditary spastic paraplegia,Complex HSP|Complex SPG|Complex familial spastic paraplegia|Complicated HSP|Complicated SPG|Complicated familial spastic paraplegia|Complicated hereditary spastic paraplegia +GARD:0019824,Orphanet,ORPHA:102014,Group of disorders,Category,Autosomal dominant limb-girdle muscular dystrophy, +GARD:0019825,Orphanet,ORPHA:102015,Group of disorders,Category,Autosomal recessive limb-girdle muscular dystrophy, +GARD:0019826,Orphanet,ORPHA:102020,Group of disorders,Category,Autosomal monosomy,Autosomal deletion +GARD:0019827,Orphanet,ORPHA:102021,Group of disorders,Category,Rickettsial disease,Rickettsiae disease +GARD:0019828,Orphanet,ORPHA:102022,Group of disorders,Category,Spotted fever rickettsiosis,Spotted fever rickettsiae disease +GARD:0019829,Orphanet,ORPHA:102023,Group of disorders,Category,Typhus-group rickettsiosis,Typhus-group rickettsiae disease +GARD:0019830,Orphanet,ORPHA:102024,Group of disorders,Category,Human herpesvirus 8-related disorder,HHV-8-related disorder +GARD:0019831,Orphanet,ORPHA:102237,Group of disorders,Category,Unexplained periodic fever syndrome, +GARD:0019832,Orphanet,ORPHA:102283,Group of disorders,Category,Multiple congenital anomalies/dysmorphic syndrome-intellectual disability,MCA/MR|Multiple congenital anomalies-intellectual disability with or without dysmorphism +GARD:0019833,Orphanet,ORPHA:102285,Group of disorders,Category,Multiple congenital anomalies/dysmorphic syndrome without intellectual disability,MCA without intellectual disability|Multiple congenital anomalies without intellectual disability with or without dysmorphism +GARD:0019834,Orphanet,ORPHA:102369,Group of disorders,Category,Rare syndromic intellectual disability, +GARD:0019835,Orphanet,ORPHA:102379,Disorder,Disease,Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent,AML and myelodysplastic syndromes related to alkylating agent +GARD:0019836,Orphanet,ORPHA:102381,Disorder,Disease,Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor,AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor +GARD:0019837,Orphanet,ORPHA:102724,Disorder,Disease,Acute myeloid leukemia with t(8;21)(q22;q22) translocation,AML with t(8;21)(q22;q22) translocation +GARD:0019838,Orphanet,ORPHA:103907,Disorder,Disease,Chronic diarrhea due to glucoamylase deficiency,Maltase-glucoamylase deficiency +GARD:0019839,Orphanet,ORPHA:103910,Disorder,Disease,Congenital enterocyte heparan sulfate deficiency, +GARD:0019840,Orphanet,ORPHA:103920,Disorder,Disease,Undetermined colitis, +GARD:0019841,Orphanet,ORPHA:104003,Group of disorders,Category,Congenital intestinal transport defect, +GARD:0019842,Orphanet,ORPHA:104004,Group of disorders,Category,Intestinal disease due to vitamin absorption anomaly, +GARD:0019843,Orphanet,ORPHA:104005,Group of disorders,Category,Intestinal disease due to fat malabsorption, +GARD:0019844,Orphanet,ORPHA:104006,Group of disorders,Category,Congenital intestinal disease due to an enzymatic defect, +GARD:0019845,Orphanet,ORPHA:104007,Group of disorders,Category,Congenital enteropathy involving intestinal mucosa development, +GARD:0019846,Orphanet,ORPHA:104009,Group of disorders,Category,Rare disease involving intestinal motility, +GARD:0019847,Orphanet,ORPHA:104010,Group of disorders,Clinical group,Intestinal polyposis syndrome, +GARD:0019848,Orphanet,ORPHA:104011,Group of disorders,Category,Rare tumor of intestine,Rare intestinal tumor|Rare tumor of bowel +GARD:0019849,Orphanet,ORPHA:104012,Group of disorders,Category,Rare inflammatory bowel disease, +GARD:0019850,Orphanet,ORPHA:104013,Group of disorders,Category,Metabolic disease with intestinal involvement, +GARD:0019851,Orphanet,ORPHA:104075,Disorder,Disease,Adenocarcinoma of the small intestine,Adenocarcinoma of the small bowel +GARD:0019852,Orphanet,ORPHA:104076,Disorder,Disease,Leiomyosarcoma of small intestine, +GARD:0019853,Orphanet,ORPHA:104077,Subtype of disorder,Etiological subtype,Myopathic intestinal pseudoobstruction, +GARD:0019854,Orphanet,ORPHA:104078,Subtype of disorder,Etiological subtype,Unclassified intestinal pseudoobstruction, +GARD:0019855,Orphanet,ORPHA:108959,Group of disorders,Category,Non-syndromic esophageal malformation, +GARD:0019856,Orphanet,ORPHA:108961,Group of disorders,Category,Syndromic esophageal malformation, +GARD:0019857,Orphanet,ORPHA:108963,Group of disorders,Category,Non-syndromic gastroduodenal malformation, +GARD:0019858,Orphanet,ORPHA:108965,Group of disorders,Category,Syndromic gastroduodenal malformation, +GARD:0019859,Orphanet,ORPHA:108967,Group of disorders,Category,Non-syndromic intestinal malformation, +GARD:0019860,Orphanet,ORPHA:108969,Group of disorders,Category,Syndromic intestinal malformation, +GARD:0019861,Orphanet,ORPHA:108971,Group of disorders,Category,Non-syndromic visceral malformation, +GARD:0019862,Orphanet,ORPHA:108973,Group of disorders,Category,Syndromic visceral malformation, +GARD:0019863,Orphanet,ORPHA:108977,Group of disorders,Category,Non-syndromic diaphragmatic or abdominal wall malformation, +GARD:0019864,Orphanet,ORPHA:108979,Group of disorders,Category,Syndromic diaphragmatic or abdominal wall malformation, +GARD:0019865,Orphanet,ORPHA:108989,Group of disorders,Category,Non-syndromic central nervous system malformation, +GARD:0019866,Orphanet,ORPHA:108991,Group of disorders,Category,Syndrome with a central nervous system malformation as a major feature, +GARD:0019867,Orphanet,ORPHA:108993,Group of disorders,Category,Non-syndromic respiratory or mediastinal malformation, +GARD:0019868,Orphanet,ORPHA:108995,Group of disorders,Category,Syndromic respiratory or mediastinal malformation, +GARD:0019869,Orphanet,ORPHA:108997,Group of disorders,Category,Rare anemia, +GARD:0019870,Orphanet,ORPHA:109007,Group of disorders,Category,Arthrogryposis syndrome, +GARD:0019871,Orphanet,ORPHA:109009,Group of disorders,Category,Syndrome with limb malformations as a major feature, +GARD:0019872,Orphanet,ORPHA:109011,Group of disorders,Category,Non-syndromic limb malformation, +GARD:0019873,Orphanet,ORPHA:117569,Group of disorders,Category,Rare intestinal disease, +GARD:0019874,Orphanet,ORPHA:117573,Group of disorders,Category,Syndromic anorectal malformation, +GARD:0019875,Orphanet,ORPHA:137577,Disorder,Particular clinical situation in a disease or syndrome,Neonatal hypoxic and ischemic brain injury,HIE|Hypoxic and ischemic brain injury in the newborn|Hypoxic-ischemic encephalopathy|Perinatal asphyxia|Perinatal hypoxia +GARD:0019876,Orphanet,ORPHA:137583,Disorder,Disease,Vulvar intraepithelial neoplasia,VIN|Vulvar intraepithelial tumor +GARD:0019877,Orphanet,ORPHA:137593,Disorder,Disease,Infectious epithelial keratitis, +GARD:0019878,Orphanet,ORPHA:137596,Disorder,Disease,Neurotrophic keratopathy,Neurotrophic keratitis +GARD:0019879,Orphanet,ORPHA:137599,Disorder,Disease,Herpes simplex virus stromal keratitis, +GARD:0019880,Orphanet,ORPHA:137602,Disorder,Disease,Corneal endotheliitis, +GARD:0019881,Orphanet,ORPHA:137608,Disorder,Malformation syndrome,Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome,SOLAMEN syndrome +GARD:0019882,Orphanet,ORPHA:137622,Disorder,Malformation syndrome,Intractable diarrhea-choanal atresia-eye anomalies syndrome, +GARD:0019883,Orphanet,ORPHA:137628,Disorder,Malformation syndrome,Cardiac anomalies-heterotaxy syndrome, +GARD:0019884,Orphanet,ORPHA:137698,Disorder,Particular clinical situation in a disease or syndrome,Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk,CMV disease in patients with impaired cell mediated immunity deemed at risk +GARD:0019885,Orphanet,ORPHA:137814,Disorder,Disease,Macular amyloidosis, +GARD:0019886,Orphanet,ORPHA:137820,Disorder,Disease,Extrapelvic endometriosis,Endometriosis outside pelvis +GARD:0019887,Orphanet,ORPHA:137867,Disorder,Disease,Madras motor neuron disease,MMND +GARD:0019888,Orphanet,ORPHA:137905,Group of disorders,Category,Syndromic optic nerve hypoplasia, +GARD:0019889,Orphanet,ORPHA:137917,Subtype of disorder,Clinical subtype,"Choanal atresia, unilateral", +GARD:0019890,Orphanet,ORPHA:137920,Subtype of disorder,Clinical subtype,"Choanal atresia, bilateral", +GARD:0019891,Orphanet,ORPHA:137926,Disorder,Malformation syndrome,Primary laryngeal lymphangioma, +GARD:0019892,Orphanet,ORPHA:137929,Disorder,Disease,Neonatal brainstem dysfunction, +GARD:0019893,Orphanet,ORPHA:137935,Disorder,Disease,Laryngotracheal angioma, +GARD:0019894,Orphanet,ORPHA:138041,Group of disorders,Category,Pierre Robin syndrome associated with collagen disease,Pierre Robin sequence associated with collagen disease +GARD:0019895,Orphanet,ORPHA:138044,Group of disorders,Category,Rare disease with Pierre Robin syndrome, +GARD:0019896,Orphanet,ORPHA:138047,Group of disorders,Category,Pierre Robin syndrome associated with a chromosomal anomaly,Pierre Robin sequence associated with a chromosomal anomaly +GARD:0019897,Orphanet,ORPHA:138050,Group of disorders,Category,Pierre Robin syndrome associated with branchial archs anomalies,Pierre Robin sequence associated with branchial archs anomalies +GARD:0019898,Orphanet,ORPHA:138055,Group of disorders,Category,Pierre Robin syndrome associated with bone disease,Pierre Robin sequence associated with bone disease +GARD:0019899,Orphanet,ORPHA:138059,Group of disorders,Category,Teratogenic Pierre Robin syndrome,Teratogenic Pierre Robin sequence +GARD:0019900,Orphanet,ORPHA:139009,Group of disorders,Category,Developmental anomaly of metabolic origin, +GARD:0019901,Orphanet,ORPHA:139012,Group of disorders,Category,Rare bone development disorder,Rare skeletal development disorder +GARD:0019902,Orphanet,ORPHA:139021,Group of disorders,Category,Malformation syndrome with short stature, +GARD:0019903,Orphanet,ORPHA:139024,Group of disorders,Category,Overgrowth/obesity syndrome, +GARD:0019904,Orphanet,ORPHA:139027,Group of disorders,Category,Rare developmental defect with skin/mucosae involvement, +GARD:0019905,Orphanet,ORPHA:139030,Group of disorders,Category,Rare developmental defect with connective tissue involvement, +GARD:0019906,Orphanet,ORPHA:139033,Group of disorders,Category,Progeroid syndrome, +GARD:0019907,Orphanet,ORPHA:139036,Group of disorders,Category,Branchial arch or oral-acral syndrome, +GARD:0019908,Orphanet,ORPHA:139039,Group of disorders,Category,Orofacial clefting syndrome, +GARD:0019909,Orphanet,ORPHA:139042,Group of disorders,Category,Malformation syndrome with odontal and/or periodontal component, +GARD:0019910,Orphanet,ORPHA:139390,Group of disorders,Clinical group,Non-syndromic craniosynostosis,Isolated craniosynostosis +GARD:0019911,Orphanet,ORPHA:139393,Group of disorders,Category,Syndromic craniosynostosis, +GARD:0019912,Orphanet,ORPHA:139414,Disorder,Disease,Congenital panfollicular nevus, +GARD:0019913,Orphanet,ORPHA:139417,Disorder,Disease,Acute transverse myelitis, +GARD:0019914,Orphanet,ORPHA:139423,Subtype of disorder,Clinical subtype,Idiopathic acute transverse myelitis, +GARD:0019915,Orphanet,ORPHA:139426,Disorder,Disease,Perioral myoclonia with absences,POMA +GARD:0019916,Orphanet,ORPHA:139431,Disorder,Disease,Jeavons syndrome,EMEA|Eyelid myoclonia with and without absences +GARD:0019917,Orphanet,ORPHA:139444,Disorder,Disease,Leukoencephalopathy with bilateral anterior temporal lobe cysts, +GARD:0019918,Orphanet,ORPHA:139447,Disorder,Disease,Progressive cavitating leukoencephalopathy, +GARD:0019919,Orphanet,ORPHA:139512,Disorder,Disease,Neuropathy with hearing impairment, +GARD:0019920,Orphanet,ORPHA:139573,Disorder,Disease,Hereditary sensory and autonomic neuropathy with deafness and global delay,HSAN with deafness and global delay|HSAN with hearing loss and global delay|Hereditary sensory and autonomic neuropathy with hearing loss and global delay +GARD:0019921,Orphanet,ORPHA:140162,Group of disorders,Category,Inherited cancer-predisposing syndrome, +GARD:0019922,Orphanet,ORPHA:140286,Disorder,Disease,Secondary hypoparathyroidism due to impaired parathormon secretion, +GARD:0019923,Orphanet,ORPHA:140453,Group of disorders,Category,Autosomal dominant hereditary demyelinating motor and sensory neuropathy, +GARD:0019924,Orphanet,ORPHA:140456,Group of disorders,Category,Autosomal dominant hereditary axonal motor and sensory neuropathy, +GARD:0019925,Orphanet,ORPHA:140459,Group of disorders,Category,Autosomal recessive hereditary demyelinating motor and sensory neuropathy, +GARD:0019926,Orphanet,ORPHA:140465,Group of disorders,Category,Autosomal dominant distal hereditary motor neuropathy,Autosomal dominant dHMN|Autosomal dominant distal spinal muscular atrophy +GARD:0019927,Orphanet,ORPHA:140468,Group of disorders,Category,Autosomal recessive distal hereditary motor neuropathy,Autosomal recessive dHMN|Autosomal recessive dSMA|Autosomal recessive distal spinal muscular atrophy +GARD:0019928,Orphanet,ORPHA:140474,Group of disorders,Category,Autosomal dominant hereditary sensory and autonomic neuropathy, +GARD:0019929,Orphanet,ORPHA:140477,Group of disorders,Category,Autosomal recessive hereditary sensory and autonomic neuropathy, +GARD:0019930,Orphanet,ORPHA:140653,Group of disorders,Category,Neuro-ophthalmological disease, +GARD:0019931,Orphanet,ORPHA:140874,Group of disorders,Category,Joubert syndrome and related disorders,JSRD +GARD:0019932,Orphanet,ORPHA:140933,Disorder,Disease,Linear atrophoderma of Moulin, +GARD:0019933,Orphanet,ORPHA:140949,Disorder,Particular clinical situation in a disease or syndrome,Low-flow priapism, +GARD:0019934,Orphanet,ORPHA:141013,Disorder,Morphological anomaly,First branchial cleft anomaly,First branchial cleft cyst|First branchial cleft fistula +GARD:0019935,Orphanet,ORPHA:141030,Disorder,Morphological anomaly,Third branchial cleft anomaly,Third branchial cleft cyst|Third branchial cleft fistula +GARD:0019936,Orphanet,ORPHA:141037,Disorder,Morphological anomaly,Fourth branchial cleft anomaly,Fourth branchial cleft cyst|Fourth branchial cleft fistula +GARD:0019937,Orphanet,ORPHA:141046,Disorder,Morphological anomaly,Cervical dermoid cyst,Dermoid cyst of the neck +GARD:0019938,Orphanet,ORPHA:141051,Disorder,Morphological anomaly,Facial dermoid cyst,Dermoid cyst of the face +GARD:0019939,Orphanet,ORPHA:141061,Disorder,Morphological anomaly,Commissural lip fistula, +GARD:0019940,Orphanet,ORPHA:141064,Disorder,Morphological anomaly,Lower lip fistula, +GARD:0019941,Orphanet,ORPHA:141067,Disorder,Morphological anomaly,Cervicofacial fibrochondroma, +GARD:0019942,Orphanet,ORPHA:141071,Disorder,Morphological anomaly,Digestive duplication cyst of the tongue,Enteric duplication cyst of the tongue|Foregut duplication cyst of the tongue|Gastric duplication cyst of the tongue +GARD:0019943,Orphanet,ORPHA:141077,Subtype of disorder,Clinical subtype,Epignathus,Oropharyngeal teratoma +GARD:0019944,Orphanet,ORPHA:141083,Disorder,Morphological anomaly,Nasolacrimal duct cyst,Dacryocele|Dacryocystocele|Nasolacrimal mucocele +GARD:0019945,Orphanet,ORPHA:141091,Disorder,Malformation syndrome,Polyrrhinia,Double nose|Polyrhinia +GARD:0019946,Orphanet,ORPHA:141096,Disorder,Malformation syndrome,Supernumerary nostril,Accessory nostril +GARD:0019947,Orphanet,ORPHA:141099,Disorder,Malformation syndrome,Proboscis lateralis,Congenital tubular nose +GARD:0019948,Orphanet,ORPHA:141107,Subtype of disorder,Clinical subtype,Nasopharyngeal teratoma,Teratoma of the nasopharynx +GARD:0019949,Orphanet,ORPHA:141112,Disorder,Disease,Nasal glial heterotopia,Nasal glioma +GARD:0019950,Orphanet,ORPHA:141115,Subtype of disorder,Clinical subtype,Nasal ganglioglioma, +GARD:0019951,Orphanet,ORPHA:141118,Subtype of disorder,Clinical subtype,Nasal encephalocele, +GARD:0019952,Orphanet,ORPHA:141121,Disorder,Malformation syndrome,Congenital subglottic stenosis, +GARD:0019953,Orphanet,ORPHA:141124,Disorder,Morphological anomaly,Congenital laryngeal cyst, +GARD:0019954,Orphanet,ORPHA:141163,Disorder,Malformation syndrome,Glossopalatine ankylosis,Cosack syndrome +GARD:0019955,Orphanet,ORPHA:141168,Disorder,Malformation syndrome,Frontonasal arteriovenous malformation, +GARD:0019956,Orphanet,ORPHA:141171,Disorder,Malformation syndrome,Maxillary arteriovenous malformation,Arteriovenous malformation of maxilla +GARD:0019957,Orphanet,ORPHA:141174,Disorder,Malformation syndrome,Mandibular arteriovenous malformation,Arteriovenous malformation of mandible +GARD:0019958,Orphanet,ORPHA:141184,Disorder,Disease,Rapidly involuting congenital hemangioma,RICH +GARD:0019959,Orphanet,ORPHA:141194,Disorder,Malformation syndrome,Cerebrofacial arteriovenous metameric syndrome type 1,CAMS1 +GARD:0019960,Orphanet,ORPHA:141199,Disorder,Malformation syndrome,Cerebrofacial arteriovenous metameric syndrome type 3,CAMS3 +GARD:0019961,Orphanet,ORPHA:141209,Disorder,Malformation syndrome,Diffuse lymphatic malformation,Diffuse lymphangioma|Diffuse lymphangiomatosis|Disseminated lymphangioma|Disseminated lymphangiomatosis|Disseminated lymphatic malformation|GLA|Generalized lymphatic anomaly +GARD:0019962,Orphanet,ORPHA:141214,Disorder,Malformation syndrome,Isolated congenital syngnathia,Isolated congenital maxillomandibular fusion +GARD:0019963,Orphanet,ORPHA:141219,Disorder,Morphological anomaly,Nasal dorsum fistula, +GARD:0019964,Orphanet,ORPHA:141229,Group of disorders,Category,Facial cleft,Craniofacial cleft +GARD:0019965,Orphanet,ORPHA:141234,Group of disorders,Clinical group,Median facial cleft,Midline facial cleft|Tessier number 0-14 and 30 facial cleft +GARD:0019966,Orphanet,ORPHA:141239,Disorder,Morphological anomaly,Median cleft of the upper lip and maxilla, +GARD:0019967,Orphanet,ORPHA:141253,Group of disorders,Clinical group,Oblique facial cleft,Orbitofacial cleft +GARD:0019968,Orphanet,ORPHA:141261,Disorder,Morphological anomaly,Tessier number 5 facial cleft, +GARD:0019969,Orphanet,ORPHA:141265,Disorder,Morphological anomaly,Tessier number 6 facial cleft, +GARD:0019970,Orphanet,ORPHA:141269,Group of disorders,Clinical group,Lateral facial cleft, +GARD:0019971,Orphanet,ORPHA:141288,Disorder,Morphological anomaly,Midline cervical cleft, +GARD:0019972,Orphanet,ORPHA:155832,Group of disorders,Category,Rare head and neck malformation, +GARD:0019973,Orphanet,ORPHA:155835,Group of disorders,Category,Cysts and fistulae of the face and oral cavity, +GARD:0019974,Orphanet,ORPHA:155838,Disorder,Morphological anomaly,Pinnae fistula or cyst, +GARD:0019975,Orphanet,ORPHA:155867,Group of disorders,Clinical group,Paramedian facial cleft,Tessier number 1-1 and 2-12 facial cleft +GARD:0019976,Orphanet,ORPHA:155878,Disorder,Morphological anomaly,Submucosal cleft palate, +GARD:0019977,Orphanet,ORPHA:155884,Disorder,Morphological anomaly,Coloboma of superior eyelid,Superior palpebral coloboma +GARD:0019978,Orphanet,ORPHA:155889,Disorder,Morphological anomaly,Coloboma of inferior eyelid,Inferior palpebral coloboma +GARD:0019979,Orphanet,ORPHA:155896,Group of disorders,Category,Otomandibular dysplasia, +GARD:0019980,Orphanet,ORPHA:155899,Group of disorders,Clinical group,Mandibulofacial dysostosis,Bilateral and symmetric oto-mandibular dysplasia +GARD:0019981,Orphanet,ORPHA:156140,Group of disorders,Clinical group,Predominantly large-vessel vasculitis, +GARD:0019982,Orphanet,ORPHA:156143,Group of disorders,Clinical group,Predominantly medium-vessel vasculitis, +GARD:0019983,Orphanet,ORPHA:156146,Group of disorders,Clinical group,Predominantly small-vessel vasculitis, +GARD:0019984,Orphanet,ORPHA:156149,Group of disorders,Category,Immune complex mediated vasculitis, +GARD:0019985,Orphanet,ORPHA:156159,Group of disorders,Category,Isolated dystonia,Pure dystonia +GARD:0019986,Orphanet,ORPHA:156162,Group of disorders,Category,Renal ciliopathy, +GARD:0019987,Orphanet,ORPHA:156165,Group of disorders,Category,Retinal ciliopathy, +GARD:0019988,Orphanet,ORPHA:156168,Group of disorders,Category,Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene,Retinal ciliopathy due to mutation in RP1 gene +GARD:0019989,Orphanet,ORPHA:156171,Group of disorders,Category,Retinal ciliopathy due to mutation in the RPGR gene, +GARD:0019990,Orphanet,ORPHA:156174,Group of disorders,Category,Retinal ciliopathy due to mutation in the RPGRIP gene, +GARD:0019991,Orphanet,ORPHA:156177,Group of disorders,Category,Retinal ciliopathy due to mutation in Usher gene, +GARD:0019992,Orphanet,ORPHA:156180,Group of disorders,Category,Retinal ciliopathy due to mutation in nephronophthisis gene, +GARD:0019993,Orphanet,ORPHA:156183,Group of disorders,Category,Retinal ciliopathy due to mutation in Bardet-Biedl gene, +GARD:0019994,Orphanet,ORPHA:156202,Group of disorders,Category,Otomandibular dysplasia associated with monogenic syndromes, +GARD:0019995,Orphanet,ORPHA:156212,Group of disorders,Category,Hypoglossia/aglossia, +GARD:0019996,Orphanet,ORPHA:156215,Group of disorders,Category,Oromandibular-limb anomalies syndrome, +GARD:0019997,Orphanet,ORPHA:156224,Group of disorders,Category,Paralytic facial malformation, +GARD:0019998,Orphanet,ORPHA:156237,Group of disorders,Category,Syndrome or malformation associated with head and neck malformations, +GARD:0019999,Orphanet,ORPHA:156243,Group of disorders,Category,Pinnae and external auditory canal anomaly, +GARD:0020000,Orphanet,ORPHA:156246,Group of disorders,Category,Nose and cavum anomaly, +GARD:0020001,Orphanet,ORPHA:156249,Group of disorders,Category,Larynx anomaly, +GARD:0020002,Orphanet,ORPHA:156252,Group of disorders,Category,Tracheal anomaly, +GARD:0020003,Orphanet,ORPHA:156532,Group of disorders,Category,Rare syndrome with cardiac malformations, +GARD:0020004,Orphanet,ORPHA:156601,Group of disorders,Category,Rare genetic hepatic disease, +GARD:0020005,Orphanet,ORPHA:156604,Group of disorders,Category,Genetic parenchymatous liver disease, +GARD:0020006,Orphanet,ORPHA:156607,Group of disorders,Category,Genetic biliary tract disease, +GARD:0020007,Orphanet,ORPHA:156610,Group of disorders,Category,Rare genetic respiratory disease, +GARD:0020008,Orphanet,ORPHA:156619,Group of disorders,Category,Rare genetic urogenital disease, +GARD:0020009,Orphanet,ORPHA:156622,Group of disorders,Category,Genetic urogenital tract malformation, +GARD:0020010,Orphanet,ORPHA:156629,Group of disorders,Category,Rare genetic cause of hypertension, +GARD:0020011,Orphanet,ORPHA:156638,Group of disorders,Category,Rare genetic endocrine disease, +GARD:0020012,Orphanet,ORPHA:156643,Group of disorders,Category,Genetic endocrine growth disease, +GARD:0020013,Orphanet,ORPHA:157769,Disorder,Morphological anomaly,Situs ambiguus,Incomplete situs inversus|Partial situs inversus|Situs ambiguous +GARD:0020014,Orphanet,ORPHA:157791,Disorder,Disease,Epithelioid hemangioendothelioma, +GARD:0020015,Orphanet,ORPHA:157808,Disorder,Morphological anomaly,Congenital pseudoarthrosis of the limbs,Congenital pseudarthrosis of the limbs +GARD:0020016,Orphanet,ORPHA:157826,Disorder,Disease,Congenital epulis,Congenital gingival cell tumor|Congenital granular cell tumor|Neumann tumor +GARD:0020017,Orphanet,ORPHA:157843,Group of disorders,Clinical group,Trigeminal autonomic cephalalgia, +GARD:0020018,Orphanet,ORPHA:157991,Disorder,Disease,Generalized eruptive histiocytosis,Generalized eruptive histiocytoma +GARD:0020019,Orphanet,ORPHA:157997,Disorder,Disease,Benign cephalic histiocytosis, +GARD:0020020,Orphanet,ORPHA:158000,Disorder,Disease,Juvenile xanthogranuloma, +GARD:0020021,Orphanet,ORPHA:158008,Disorder,Disease,Papular xanthoma, +GARD:0020022,Orphanet,ORPHA:158019,Disorder,Disease,Indeterminate cell histiocytosis,Indeterminate dendritic cell neoplasm|Indeterminate dendritic cell tumor +GARD:0020023,Orphanet,ORPHA:158022,Disorder,Disease,Progressive nodular histiocytosis, +GARD:0020024,Orphanet,ORPHA:158032,Group of disorders,Category,Hemophagocytic syndrome,HLH|Hemophagocytic lymphohistiocytosis +GARD:0020025,Orphanet,ORPHA:158038,Group of disorders,Clinical group,Primary hemophagocytic lymphohistiocytosis,Genetic hemophagocytic lymphohistiocytosis +GARD:0020026,Orphanet,ORPHA:158041,Group of disorders,Category,Secondary hemophagocytic lymphohistiocytosis,Acquired hemophagocytic lymphohistiocytosis|Reactive hemophagocytic syndrome +GARD:0020027,Orphanet,ORPHA:158057,Disorder,Particular clinical situation in a disease or syndrome,Acquired hemophagocytic lymphohistiocytosis associated with malignant disease, +GARD:0020028,Orphanet,ORPHA:158124,Group of disorders,Category,Genetic dementia, +GARD:0020029,Orphanet,ORPHA:158266,Group of disorders,Clinical group,Huntington disease-like syndrome,Huntington disease phenocopy syndrome +GARD:0020030,Orphanet,ORPHA:158300,Group of disorders,Category,Rare genetic hematologic disease, +GARD:0020031,Orphanet,ORPHA:158673,Subtype of disorder,Clinical subtype,"Localized dystrophic epidermolysis bullosa, acral form","Localized DEB, acral form" +GARD:0020032,Orphanet,ORPHA:158676,Subtype of disorder,Clinical subtype,"Localized dystrophic epidermolysis bullosa, nails only","Localized DEB, nails only" +GARD:0020033,Orphanet,ORPHA:158766,Subtype of disorder,Clinical subtype,Typical urticaria pigmentosa, +GARD:0020034,Orphanet,ORPHA:158769,Subtype of disorder,Clinical subtype,Plaque-form urticaria pigmentosa, +GARD:0020035,Orphanet,ORPHA:158772,Subtype of disorder,Clinical subtype,Nodular urticaria pigmentosa, +GARD:0020036,Orphanet,ORPHA:158775,Disorder,Disease,Smoldering systemic mastocytosis, +GARD:0020037,Orphanet,ORPHA:158778,Disorder,Disease,Isolated bone marrow mastocytosis, +GARD:0020038,Orphanet,ORPHA:160148,Disorder,Disease,Cap polyposis,Cap inflammatory polyposis|Eroded polypoid hyperplasia|Inflammatory myoglandular polyps|Polypoid prolapsing folds +GARD:0020039,Orphanet,ORPHA:162516,Disorder,Malformation syndrome,Isolated congenital nasal pyriform aperture stenosis,Isolated apertura pyriformis stenosis|Isolated nasal pyriform aperture hypoplasia +GARD:0020040,Orphanet,ORPHA:162526,Disorder,Morphological anomaly,Isolated congenital auditory ossicle malformation,Congenital auditory ossicle malformation without external ear abnormality +GARD:0020041,Orphanet,ORPHA:163209,Group of disorders,Category,Non-syndromic cerebral malformation due to abnormal neuronal migration,Brain malformation due to abnormal neuronal migration +GARD:0020042,Orphanet,ORPHA:163525,Disorder,Disease,Subacute cutaneous lupus erythematosus, +GARD:0020043,Orphanet,ORPHA:163531,Group of disorders,Clinical group,Chronic cutaneous lupus erythematosus, +GARD:0020044,Orphanet,ORPHA:163582,Group of disorders,Category,Rare bacterial infectious disease, +GARD:0020045,Orphanet,ORPHA:163585,Group of disorders,Category,Rare viral disease, +GARD:0020046,Orphanet,ORPHA:163588,Group of disorders,Category,Rare parasitic disease, +GARD:0020047,Orphanet,ORPHA:163591,Group of disorders,Category,Rare mycosis, +GARD:0020048,Orphanet,ORPHA:163631,Group of disorders,Category,Bile acid synthesis defect with cholestasis and malabsorption, +GARD:0020049,Orphanet,ORPHA:163637,Group of disorders,Category,"Rare disorder related with pregnancy, childbirth and puerperium", +GARD:0020050,Orphanet,ORPHA:163708,Disorder,Disease,Cryptogenic late-onset epileptic spasms,Late-onset infantile spasms +GARD:0020051,Orphanet,ORPHA:163921,Disorder,Particular clinical situation in a disease or syndrome,Posttransplant acute limbic encephalitis,PALE +GARD:0020052,Orphanet,ORPHA:163931,Disorder,Disease,Acrodermatitis continua of Hallopeau, +GARD:0020053,Orphanet,ORPHA:163934,Disorder,Disease,Atopic keratoconjunctivitis, +GARD:0020054,Orphanet,ORPHA:163971,Disorder,Disease,"X-linked intellectual disability, Cilliers type",X-linked intellectual disability-microcephaly-testicular failure syndrome +GARD:0020055,Orphanet,ORPHA:164001,Group of disorders,Category,Rare odontal or periodontal disorder, +GARD:0020056,Orphanet,ORPHA:164004,Group of disorders,Category,Middle ear anomaly, +GARD:0020057,Orphanet,ORPHA:164726,Disorder,Disease,Acute myeloid leukemia and myelodysplastic syndromes related to radiation,AML and myelodysplastic syndromes related to radiation +GARD:0020058,Orphanet,ORPHA:164823,Group of disorders,Category,Rare acquired aplastic anemia, +GARD:0020059,Orphanet,ORPHA:165652,Group of disorders,Category,Rare genetic gastroenterological disease, +GARD:0020060,Orphanet,ORPHA:165655,Group of disorders,Category,Genetic intestinal disease, +GARD:0020061,Orphanet,ORPHA:165658,Group of disorders,Category,Genetic gastro-esophageal disease, +GARD:0020062,Orphanet,ORPHA:165661,Group of disorders,Category,Genetic pancreatic disease, +GARD:0020063,Orphanet,ORPHA:165704,Group of disorders,Category,Non-syndromic urogenital tract malformation, +GARD:0020064,Orphanet,ORPHA:165707,Group of disorders,Category,Syndromic urogenital tract malformation, +GARD:0020065,Orphanet,ORPHA:165955,Disorder,Disease,Wound myiasis,Traumatic myiasis +GARD:0020066,Orphanet,ORPHA:165958,Disorder,Disease,Cavitary myiasis, +GARD:0020067,Orphanet,ORPHA:165985,Group of disorders,Clinical group,Diazoxide-sensitive diffuse hyperinsulinism,"Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form" +GARD:0020068,Orphanet,ORPHA:165988,Group of disorders,Clinical group,Diazoxide-resistant diffuse hyperinsulinism,"Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form" +GARD:0020069,Orphanet,ORPHA:166113,Disorder,Disease,Bazex syndrome,Acrokeratosis of Bazex|Acrokeratosis paraneoplastica|Acrokeratosis paraneoplastica of Bazex +GARD:0020070,Orphanet,ORPHA:166286,Disorder,Disease,Porokeratotic eccrine ostial and dermal duct nevus,Comedo nevus of the palm|Porokeratotic eccrine nevus +GARD:0020071,Orphanet,ORPHA:166295,Group of disorders,Clinical group,Benign non-familial infantile seizures, +GARD:0020072,Orphanet,ORPHA:166299,Disorder,Disease,Benign partial epilepsy of infancy with complex partial seizures, +GARD:0020073,Orphanet,ORPHA:166302,Disorder,Disease,Benign partial epilepsy with secondarily generalized seizures in infancy, +GARD:0020074,Orphanet,ORPHA:166305,Disorder,Disease,Benign infantile seizures associated with mild gastroenteritis, +GARD:0020075,Orphanet,ORPHA:166308,Disorder,Disease,Benign infantile focal epilepsy with midline spikes and waves during sleep,BIMSE +GARD:0020076,Orphanet,ORPHA:166311,Group of disorders,Clinical group,Benign partial infantile seizures, +GARD:0020077,Orphanet,ORPHA:166415,Disorder,Disease,Audiogenic seizures, +GARD:0020078,Orphanet,ORPHA:166418,Disorder,Disease,Eating reflex epilepsy,Eating epilepsy|Eating seizures +GARD:0020079,Orphanet,ORPHA:166421,Disorder,Disease,Orgasm-induced seizures, +GARD:0020080,Orphanet,ORPHA:166424,Disorder,Disease,Thinking seizures, +GARD:0020081,Orphanet,ORPHA:166427,Disorder,Disease,Startle epilepsy, +GARD:0020082,Orphanet,ORPHA:166430,Disorder,Disease,Micturation-induced seizures, +GARD:0020083,Orphanet,ORPHA:166463,Group of disorders,Category,Epilepsy syndrome, +GARD:0020084,Orphanet,ORPHA:166466,Group of disorders,Category,Neurocutaneous syndrome with epilepsy, +GARD:0020085,Orphanet,ORPHA:166469,Group of disorders,Category,Chromosomal anomaly with epilepsy as a major feature, +GARD:0020086,Orphanet,ORPHA:166472,Group of disorders,Category,Monogenic disease with epilepsy, +GARD:0020087,Orphanet,ORPHA:166475,Group of disorders,Category,Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes, +GARD:0020088,Orphanet,ORPHA:166478,Group of disorders,Category,Cerebral malformation with epilepsy, +GARD:0020089,Orphanet,ORPHA:166481,Group of disorders,Category,Metabolic diseases with epilepsy, +GARD:0020090,Orphanet,ORPHA:166484,Group of disorders,Category,Inflammatory and autoimmune disease with epilepsy, +GARD:0020091,Orphanet,ORPHA:166487,Group of disorders,Category,Cerebral diseases of vascular origin with epilepsy, +GARD:0020092,Orphanet,ORPHA:166490,Group of disorders,Category,Infectious disease with epilepsy, +GARD:0020093,Orphanet,ORPHA:166775,Group of disorders,Category,Rare hemorrhagic disorder due to an acquired coagulation factor defect,Rare bleeding disorder due to an acquired coagulation factor defect|Rare coagulopathy due to an acquired coagulation factor defect +GARD:0020094,Orphanet,ORPHA:167759,Group of disorders,Category,Hereditary dentin defect, +GARD:0020095,Orphanet,ORPHA:167762,Group of disorders,Category,Rare disease with dentinogenesis imperfecta, +GARD:0020096,Orphanet,ORPHA:167848,Group of disorders,Category,Rare cardiomyopathy, +GARD:0020097,Orphanet,ORPHA:168194,Group of disorders,Category,Rare cardiac tumor, +GARD:0020098,Orphanet,ORPHA:168621,Disorder,Disease,"Dysplasia of head of femur, Meyer type",Dysplasia epiphysealis capitis femoris|Meyer dysplasia +GARD:0020099,Orphanet,ORPHA:168778,Group of disorders,Category,Rare pervasive developmental disorder,Rare ASD|Rare PDD|Rare autism spectrum disorder +GARD:0020100,Orphanet,ORPHA:168803,Group of disorders,Category,Primary peritoneal tumor, +GARD:0020101,Orphanet,ORPHA:168807,Group of disorders,Category,Primary malignant peritoneal tumor, +GARD:0020102,Orphanet,ORPHA:168811,Disorder,Disease,Malignant peritoneal mesothelioma,Diffuse malignant peritoneal mesothelioma|Primary malignant peritoneal mesothelioma +GARD:0020103,Orphanet,ORPHA:168829,Disorder,Disease,Primary peritoneal carcinoma,EOPPC|Extra-ovarian primary peritoneal carcinoma|PPC|Primary peritoneal serous carcinoma|Serous surface papillary carcinoma +GARD:0020104,Orphanet,ORPHA:168940,Disorder,Disease,Chronic eosinophilic leukemia, +GARD:0020105,Orphanet,ORPHA:168943,Group of disorders,Category,"Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2", +GARD:0020106,Orphanet,ORPHA:168947,Disorder,Disease,Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement, +GARD:0020107,Orphanet,ORPHA:168950,Disorder,Disease,Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement, +GARD:0020108,Orphanet,ORPHA:168960,Disorder,Disease,Refractory anemia with excess blasts in transformation,RAEB-t +GARD:0020109,Orphanet,ORPHA:168966,Disorder,Disease,Composite lymphoma,Composite Hodgkin and non-Hodgkin lymphoma +GARD:0020110,Orphanet,ORPHA:168999,Disorder,Disease,Malignant melanoma of the mucosa, +GARD:0020111,Orphanet,ORPHA:169110,Disorder,Disease,Immunoglobulin heavy chain deficiency, +GARD:0020112,Orphanet,ORPHA:169139,Disorder,Disease,Transient hypogammaglobulinemia of infancy, +GARD:0020113,Orphanet,ORPHA:169163,Group of disorders,Category,Familial scaphocephaly syndrome, +GARD:0020114,Orphanet,ORPHA:169346,Group of disorders,Category,DNA repair defect other than combined T-cell and B-cell immunodeficiencies, +GARD:0020115,Orphanet,ORPHA:169349,Group of disorders,Clinical group,Immuno-osseous dysplasia, +GARD:0020116,Orphanet,ORPHA:169355,Group of disorders,Category,Immunodeficiency syndrome with autoimmunity, +GARD:0020117,Orphanet,ORPHA:169361,Group of disorders,Category,Immune dysregulation disease with immunodeficiency, +GARD:0020118,Orphanet,ORPHA:169443,Group of disorders,Category,Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells, +GARD:0020119,Orphanet,ORPHA:169615,Subtype of disorder,Etiological subtype,Idiopathic central precocious puberty, +GARD:0020120,Orphanet,ORPHA:169618,Subtype of disorder,Etiological subtype,Secondary central precocious puberty, +GARD:0020121,Orphanet,ORPHA:169826,Group of disorders,Category,Congenital vitamin K-dependent coagulation factors deficiency, +GARD:0020122,Orphanet,ORPHA:171220,Disorder,Morphological anomaly,Rectal duplication, +GARD:0020123,Orphanet,ORPHA:171673,Disorder,Disease,Limbal stem cell deficiency, +GARD:0020124,Orphanet,ORPHA:171684,Disorder,Disease,Idiopathic bilateral vestibulopathy, +GARD:0020125,Orphanet,ORPHA:171703,Disorder,Malformation syndrome,Microcephaly-polymicrogyria-corpus callosum agenesis syndrome, +GARD:0020126,Orphanet,ORPHA:171829,Disorder,Disease,6q16 microdeletion syndrome,Del(6)(q16)|Monosomy 6q16|Prader-Willi-like syndrome due to microdeletion 6q16 +GARD:0020127,Orphanet,ORPHA:171839,Disorder,Malformation syndrome,Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome,Berant syndrome|Capra-DeMarco syndrome|Familial scaphocephaly-radioulnar synostosis syndrome +GARD:0020128,Orphanet,ORPHA:171860,Disorder,Disease,Intellectual disability-cataracts-kyphosis syndrome, +GARD:0020129,Orphanet,ORPHA:171889,Disorder,Disease,Myopathy with hexagonally cross-linked tubular arrays, +GARD:0020130,Orphanet,ORPHA:171895,Group of disorders,Category,Myeloid hemopathy, +GARD:0020131,Orphanet,ORPHA:171898,Group of disorders,Category,Lymphoid hemopathy, +GARD:0020132,Orphanet,ORPHA:171915,Group of disorders,Category,B-cell non-Hodgkin lymphoma,B-cell NHL +GARD:0020133,Orphanet,ORPHA:171918,Group of disorders,Category,T-cell non-Hodgkin lymphoma,T-cell NHL +GARD:0020134,Orphanet,ORPHA:172976,Group of disorders,Clinical group,Congenital myopathy with cores, +GARD:0020135,Orphanet,ORPHA:174590,Group of disorders,Category,Congenital hypogonadotropic hypogonadism, +GARD:0020136,Orphanet,ORPHA:177101,Group of disorders,Category,Rare adult hypothyroidism, +GARD:0020137,Orphanet,ORPHA:177107,Group of disorders,Category,Syndromic hypothyroidism, +GARD:0020138,Orphanet,ORPHA:177901,Subtype of disorder,Etiological subtype,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1, +GARD:0020139,Orphanet,ORPHA:177904,Subtype of disorder,Etiological subtype,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2, +GARD:0020140,Orphanet,ORPHA:178025,Group of disorders,Category,Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations, +GARD:0020141,Orphanet,ORPHA:178040,Group of disorders,Category,Rare peripheral precocious puberty, +GARD:0020142,Orphanet,ORPHA:178045,Group of disorders,Clinical group,Transient congenital hypothyroidism, +GARD:0020143,Orphanet,ORPHA:178148,Subtype of disorder,Clinical subtype,Antenatal multiminicore disease with arthrogryposis multiplex congenita, +GARD:0020144,Orphanet,ORPHA:178311,Disorder,Disease,Isolated sternocostoclavicular hyperostosis,Isolated SCCH +GARD:0020145,Orphanet,ORPHA:178315,Disorder,Disease,Undifferentiated embryonal sarcoma of the liver,Embryonal sarcoma of the liver|UES|Undifferentiated sarcoma of the liver +GARD:0020146,Orphanet,ORPHA:178320,Disorder,Particular clinical situation in a disease or syndrome,Acute lung injury, +GARD:0020147,Orphanet,ORPHA:178377,Disorder,Malformation syndrome,Osteosclerosis-developmental delay-craniosynostosis syndrome, +GARD:0020148,Orphanet,ORPHA:178396,Disorder,Disease,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation, +GARD:0020149,Orphanet,ORPHA:178475,Subtype of disorder,Etiological subtype,Wound botulism,Cutaneous infectious botulism|Cutaneous toxin-mediated botulism|Inoculation botulism|Skin infectious botulism|Skin toxin-mediated botulism +GARD:0020150,Orphanet,ORPHA:178478,Subtype of disorder,Clinical subtype,Infant botulism,Infant intestinal botulism|Infant intestinal toxemia botulism|Infant intestinal toxin-mediated botulism|Infantile botulism +GARD:0020151,Orphanet,ORPHA:178481,Subtype of disorder,Clinical subtype,Intestinal botulism,Intestinal colonization botulism|Intestinal toxemia botulism|Intestinal toxin-mediated botulism +GARD:0020152,Orphanet,ORPHA:178487,Subtype of disorder,Clinical subtype,Adult intestinal botulism,Adult intestinal colonization botulism|Adult intestinal toxemia botulism|Adult intestinal toxin-mediated botulism|Infant-like botulism +GARD:0020153,Orphanet,ORPHA:178493,Disorder,Disease,Myopic macular degeneration,Myopic maculopathy +GARD:0020154,Orphanet,ORPHA:178512,Disorder,Disease,Folliculotropic mycosis fungoides,Mycosis fungoides-associated follicular mucinosis +GARD:0020155,Orphanet,ORPHA:178517,Disorder,Disease,Localized pagetoid reticulosis,"Pagetoid reticulosis, Woringer-Kolopp type" +GARD:0020156,Orphanet,ORPHA:178522,Disorder,Disease,Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma, +GARD:0020157,Orphanet,ORPHA:178528,Disorder,Disease,Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma,Berti lymphoma|Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma +GARD:0020158,Orphanet,ORPHA:178533,Disorder,Disease,Primary cutaneous gamma/delta-positive T-cell lymphoma, +GARD:0020159,Orphanet,ORPHA:178536,Disorder,Disease,Primary cutaneous marginal zone B-cell lymphoma,PCMZL +GARD:0020160,Orphanet,ORPHA:178544,Disorder,Disease,"Primary cutaneous diffuse large B-cell lymphoma, leg type","PCDLBCL,LT" +GARD:0020161,Orphanet,ORPHA:178548,Group of disorders,Clinical group,Indolent primary cutaneous T-cell lymphoma, +GARD:0020162,Orphanet,ORPHA:178551,Group of disorders,Clinical group,Aggressive primary cutaneous T-cell lymphoma, +GARD:0020163,Orphanet,ORPHA:178554,Group of disorders,Clinical group,Aggressive primary cutaneous B-cell lymphoma, +GARD:0020164,Orphanet,ORPHA:178557,Group of disorders,Clinical group,Indolent primary cutaneous B-cell lymphoma, +GARD:0020165,Orphanet,ORPHA:178563,Group of disorders,Category,Primary cutaneous B-cell lymphoma, +GARD:0020166,Orphanet,ORPHA:178566,Group of disorders,Clinical group,Mycosis fungoides and variants, +GARD:0020167,Orphanet,ORPHA:178996,Group of disorders,Category,Acquired neutropenia,Immunologic neutropenia +GARD:0020168,Orphanet,ORPHA:179006,Group of disorders,Category,Primary immunodeficiency due to a defect in adaptive immunity, +GARD:0020169,Orphanet,ORPHA:179490,Subtype of disorder,Etiological subtype,Obesity due to congenital leptin resistance, +GARD:0020170,Orphanet,ORPHA:180062,Group of disorders,Category,Uterovaginal malformation, +GARD:0020171,Orphanet,ORPHA:180065,Group of disorders,Category,Non-syndromic uterovaginal malformation, +GARD:0020172,Orphanet,ORPHA:180068,Group of disorders,Clinical group,Partial bilateral aplasia of the Müllerian ducts,Incomplete bilateral aplasia of the Müllerian ducts +GARD:0020173,Orphanet,ORPHA:180071,Group of disorders,Clinical group,Unilateral aplasia of the Müllerian ducts,Unicornuate uterus +GARD:0020174,Orphanet,ORPHA:180074,Disorder,Morphological anomaly,True unicornuate uterus,Complete unilateral Müllerian aplasia|Complete unilateral aplasia of the Müllerian ducts|Unicornuate uterus without rudimentary horn +GARD:0020175,Orphanet,ORPHA:180079,Disorder,Morphological anomaly,Pseudounicornuate uterus,Incomplete unilateral Müllerian aplasia|Incomplete unilateral aplasia of the Müllerian ducts|Unicornuate uterus with rudimentary horn +GARD:0020176,Orphanet,ORPHA:180086,Disorder,Morphological anomaly,Didelphys uterus,Bicervical bicornuate uterus +GARD:0020177,Orphanet,ORPHA:180106,Subtype of disorder,Clinical subtype,Bicervical bicornuate uterus and blind hemivagina, +GARD:0020178,Orphanet,ORPHA:180111,Subtype of disorder,Clinical subtype,Bicervical bicornuate uterus with patent cervix and vagina, +GARD:0020179,Orphanet,ORPHA:180114,Disorder,Morphological anomaly,Unicervical bicornuate uterus, +GARD:0020180,Orphanet,ORPHA:180122,Group of disorders,Clinical group,Septate uterus, +GARD:0020181,Orphanet,ORPHA:180126,Disorder,Morphological anomaly,Complete septate uterus,Total septate uterus +GARD:0020182,Orphanet,ORPHA:180129,Disorder,Morphological anomaly,Partial septate uterus,Subtotal septate uterus|Uterus subseptus +GARD:0020183,Orphanet,ORPHA:180134,Group of disorders,Clinical group,Bicornuate uterus, +GARD:0020184,Orphanet,ORPHA:180139,Disorder,Morphological anomaly,Uterine hypoplasia, +GARD:0020185,Orphanet,ORPHA:180142,Disorder,Morphological anomaly,Absence of uterine body, +GARD:0020186,Orphanet,ORPHA:180145,Disorder,Morphological anomaly,Uterine cervical aplasia and agenesis, +GARD:0020187,Orphanet,ORPHA:180148,Group of disorders,Category,Syndromic uterovaginal malformation, +GARD:0020188,Orphanet,ORPHA:180151,Group of disorders,Category,Rare vaginal malformation, +GARD:0020189,Orphanet,ORPHA:180154,Disorder,Morphological anomaly,Septate vagina, +GARD:0020190,Orphanet,ORPHA:180157,Subtype of disorder,Clinical subtype,Longitudinal vaginal septum, +GARD:0020191,Orphanet,ORPHA:180160,Subtype of disorder,Clinical subtype,Transverse vaginal septum, +GARD:0020192,Orphanet,ORPHA:180163,Group of disorders,Category,Rare breast malformation, +GARD:0020193,Orphanet,ORPHA:180170,Group of disorders,Category,Excess breast volume or number, +GARD:0020194,Orphanet,ORPHA:180173,Group of disorders,Category,Deficient breast volume or number, +GARD:0020195,Orphanet,ORPHA:180182,Disorder,Morphological anomaly,Supernumerary breasts,Accessory breasts|Polymastia +GARD:0020196,Orphanet,ORPHA:180193,Group of disorders,Category,Syndromic breast hypoplasia/aplasia, +GARD:0020197,Orphanet,ORPHA:180199,Group of disorders,Category,Rare non-malformative gynecologic or obstetric disease, +GARD:0020198,Orphanet,ORPHA:180202,Group of disorders,Category,Rare non-malformative breast disease, +GARD:0020199,Orphanet,ORPHA:180205,Group of disorders,Category,Rare non-malformative uterovaginal or vulvovaginal disease, +GARD:0020200,Orphanet,ORPHA:180208,Group of disorders,Category,Anomaly of puberty or/and menstrual cycle, +GARD:0020201,Orphanet,ORPHA:180220,Group of disorders,Category,Rare uterine adnexal tumor, +GARD:0020202,Orphanet,ORPHA:180234,Disorder,Disease,Mixed germ cell tumor, +GARD:0020203,Orphanet,ORPHA:180237,Disorder,Disease,Benign tumor of fallopian tubes, +GARD:0020204,Orphanet,ORPHA:180242,Disorder,Disease,Malignant tumor of fallopian tubes,Cancer of fallopian tubes|Malignant tubal tumor|Tubal cancer +GARD:0020205,Orphanet,ORPHA:180250,Group of disorders,Category,Rare breast tumor, +GARD:0020206,Orphanet,ORPHA:180267,Disorder,Disease,Giant adenofibroma of the breast, +GARD:0020207,Orphanet,ORPHA:180303,Group of disorders,Category,Rare non-malformative uterine adnexal disease, +GARD:0020208,Orphanet,ORPHA:180312,Group of disorders,Category,Rare vulvovaginal tumor, +GARD:0020209,Orphanet,ORPHA:180766,Group of disorders,Category,Malformative syndrome with dentinogenesis imperfecta, +GARD:0020211,Orphanet,ORPHA:180776,Group of disorders,Category,Non-syndromic diaphragmatic or thoracic malformation, +GARD:0020212,Orphanet,ORPHA:180779,Group of disorders,Category,Syndromic diaphragmatic or thoracic malformation, +GARD:0020213,Orphanet,ORPHA:180821,Group of disorders,Category,Rare gastroesophageal tumor, +GARD:0020214,Orphanet,ORPHA:181368,Group of disorders,Category,Rare insulin-resistance syndrome, +GARD:0020215,Orphanet,ORPHA:181371,Group of disorders,Category,Rare diabetes mellitus type 1,Rare insulin-dependent diabetes mellitus +GARD:0020216,Orphanet,ORPHA:181376,Group of disorders,Category,Rare diabetes mellitus type 2,Rare insulin-independent diabetes mellitus +GARD:0020217,Orphanet,ORPHA:181381,Group of disorders,Category,Other rare diabetes mellitus, +GARD:0020218,Orphanet,ORPHA:181384,Group of disorders,Category,Rare hypothalamic or pituitary disease, +GARD:0020219,Orphanet,ORPHA:181387,Group of disorders,Category,Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism, +GARD:0020220,Orphanet,ORPHA:181390,Group of disorders,Category,Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature, +GARD:0020221,Orphanet,ORPHA:181396,Group of disorders,Category,Rare hypothyroidism, +GARD:0020222,Orphanet,ORPHA:181399,Group of disorders,Category,Rare hyperthyroidism, +GARD:0020223,Orphanet,ORPHA:181402,Group of disorders,Category,Syndrome with hypoparathyroidism, +GARD:0020224,Orphanet,ORPHA:181405,Group of disorders,Category,Rare hypoparathyroidism, +GARD:0020225,Orphanet,ORPHA:181408,Group of disorders,Category,Rare hyperparathyroidism, +GARD:0020226,Orphanet,ORPHA:181412,Group of disorders,Category,Adrenogenital syndrome, +GARD:0020227,Orphanet,ORPHA:181415,Group of disorders,Category,Rare primary hyperaldosteronism,Rare primary aldosteronism +GARD:0020228,Orphanet,ORPHA:181419,Group of disorders,Category,Rare hypoaldosteronism, +GARD:0020229,Orphanet,ORPHA:181422,Group of disorders,Category,Rare hyperlipidemia, +GARD:0020230,Orphanet,ORPHA:181428,Group of disorders,Clinical group,Hyperalphalipoproteinemia, +GARD:0020231,Orphanet,ORPHA:181431,Group of disorders,Category,Rare hypolipidemia, +GARD:0020232,Orphanet,ORPHA:181437,Group of disorders,Category,Rare syndromic dyslipidemia, +GARD:0020233,Orphanet,ORPHA:181441,Group of disorders,Category,Rare disorder with hypergonadotropic hypogonadism,Rare disorder with primary hypogonadism +GARD:0020234,Orphanet,ORPHA:182040,Group of disorders,Category,Aplastic anemia, +GARD:0020235,Orphanet,ORPHA:182043,Group of disorders,Category,Rare constitutional hemolytic anemia, +GARD:0020236,Orphanet,ORPHA:182047,Group of disorders,Category,Rare acquired hemolytic anemia, +GARD:0020237,Orphanet,ORPHA:182054,Group of disorders,Category,Rare thrombotic disease of hematologic origin, +GARD:0020238,Orphanet,ORPHA:182061,Group of disorders,Category,Cerebellar malformation, +GARD:0020239,Orphanet,ORPHA:182064,Group of disorders,Category,Rare neuroinflammatory or neuroimmunological disease, +GARD:0020240,Orphanet,ORPHA:182070,Group of disorders,Category,Rare neurodegenerative disease, +GARD:0020241,Orphanet,ORPHA:182079,Group of disorders,Clinical group,ARX-related epileptic encephalopathy, +GARD:0020242,Orphanet,ORPHA:182083,Group of disorders,Category,Channelopathy with epilepsy, +GARD:0020243,Orphanet,ORPHA:182086,Group of disorders,Category,Acquired peripheral neuropathy, +GARD:0020244,Orphanet,ORPHA:182095,Group of disorders,Category,Interstitial lung disease,ILD +GARD:0020245,Orphanet,ORPHA:182098,Group of disorders,Clinical group,Pneumoconiosis, +GARD:0020246,Orphanet,ORPHA:182101,Group of disorders,Clinical group,Idiopathic eosinophilic pneumonia, +GARD:0020247,Orphanet,ORPHA:182104,Group of disorders,Category,Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease,CTD-ILD|Secondary ILD in childhood and adulthood associated with a connective tissue disease +GARD:0020248,Orphanet,ORPHA:182108,Group of disorders,Category,Thoracic malformation, +GARD:0020249,Orphanet,ORPHA:182111,Group of disorders,Category,Respiratory malformation, +GARD:0020250,Orphanet,ORPHA:182114,Group of disorders,Category,Rare urogenital tumor, +GARD:0020251,Orphanet,ORPHA:182117,Group of disorders,Category,Non-syndromic urogenital tract malformation of female, +GARD:0020252,Orphanet,ORPHA:182121,Group of disorders,Category,Non-syndromic urogenital tract malformation of male, +GARD:0020253,Orphanet,ORPHA:182124,Group of disorders,Category,Non-syndromic urogenital tract malformation of male and female, +GARD:0020254,Orphanet,ORPHA:182130,Group of disorders,Category,Tumor of endocrine glands, +GARD:0020255,Orphanet,ORPHA:182222,Group of disorders,Category,Rare systemic disease, +GARD:0020256,Orphanet,ORPHA:182228,Group of disorders,Category,Systemic autoimmune disease, +GARD:0020257,Orphanet,ORPHA:182231,Group of disorders,Category,Rare rheumatologic disease, +GARD:0020258,Orphanet,ORPHA:182734,Group of disorders,Clinical group,Genetic urticaria, +GARD:0020259,Orphanet,ORPHA:183422,Group of disorders,Category,Polymalformative genetic syndrome with increased risk of developing cancer, +GARD:0020260,Orphanet,ORPHA:183426,Group of disorders,Category,Genetic epidermal disorder, +GARD:0020261,Orphanet,ORPHA:183435,Group of disorders,Category,Inherited ichthyosis,Genetic ichthyosis +GARD:0020262,Orphanet,ORPHA:183438,Group of disorders,Category,Genetic erythrokeratoderma, +GARD:0020263,Orphanet,ORPHA:183441,Group of disorders,Category,Genetic acrokeratoderma, +GARD:0020264,Orphanet,ORPHA:183444,Group of disorders,Category,Genetic porokeratosis, +GARD:0020265,Orphanet,ORPHA:183447,Group of disorders,Category,Genetic epidermal appendage anomaly, +GARD:0020266,Orphanet,ORPHA:183450,Group of disorders,Category,Genetic hair anomaly, +GARD:0020267,Orphanet,ORPHA:183454,Group of disorders,Category,Genetic nail anomaly, +GARD:0020268,Orphanet,ORPHA:183460,Group of disorders,Category,Genetic sebaceous gland anomaly, +GARD:0020269,Orphanet,ORPHA:183463,Group of disorders,Category,Genetic pigmentation anomaly of the skin, +GARD:0020270,Orphanet,ORPHA:183466,Group of disorders,Category,Genetic hyperpigmentation of the skin, +GARD:0020271,Orphanet,ORPHA:183469,Group of disorders,Category,Genetic hypopigmentation of the skin, +GARD:0020272,Orphanet,ORPHA:183472,Group of disorders,Category,Genetic dermis disorder, +GARD:0020273,Orphanet,ORPHA:183478,Group of disorders,Category,Genetic skin vascular disorder, +GARD:0020274,Orphanet,ORPHA:183481,Group of disorders,Category,Genetic mixed dermis disorder, +GARD:0020275,Orphanet,ORPHA:183484,Group of disorders,Category,Genetic subcutaneous tissue disorder, +GARD:0020276,Orphanet,ORPHA:183487,Group of disorders,Category,Genetic skin tumor or hamartoma, +GARD:0020277,Orphanet,ORPHA:183490,Group of disorders,Category,Genetic photodermatosis,Genetic skin photosensitivity|Photogenodermatosis|Photogénodermatose +GARD:0020278,Orphanet,ORPHA:183494,Group of disorders,Category,Genetic immune deficiency with skin involvement, +GARD:0020279,Orphanet,ORPHA:183497,Group of disorders,Category,Genetic neuromuscular disease, +GARD:0020280,Orphanet,ORPHA:183500,Group of disorders,Category,Genetic neurodegenerative disease, +GARD:0020281,Orphanet,ORPHA:183503,Group of disorders,Category,Genetic central nervous system and retinal vascular disease, +GARD:0020282,Orphanet,ORPHA:183506,Group of disorders,Category,Genetic central nervous system malformation, +GARD:0020283,Orphanet,ORPHA:183509,Group of disorders,Category,Rare genetic headache, +GARD:0020284,Orphanet,ORPHA:183512,Group of disorders,Category,Rare genetic epilepsy, +GARD:0020285,Orphanet,ORPHA:183515,Group of disorders,Category,Rare genetic medullar disease, +GARD:0020286,Orphanet,ORPHA:183518,Group of disorders,Category,Rare hereditary ataxia, +GARD:0020287,Orphanet,ORPHA:183521,Group of disorders,Category,Rare genetic movement disorder, +GARD:0020288,Orphanet,ORPHA:183524,Group of disorders,Category,Rare genetic bone disease, +GARD:0020289,Orphanet,ORPHA:183527,Group of disorders,Category,Genetic bone tumor, +GARD:0020290,Orphanet,ORPHA:183530,Group of disorders,Category,Rare genetic developmental defect during embryogenesis, +GARD:0020291,Orphanet,ORPHA:183533,Group of disorders,Category,Genetic multiple congenital anomalies/dysmorphic syndrome, +GARD:0020292,Orphanet,ORPHA:183536,Group of disorders,Category,Genetic congenital limb malformation, +GARD:0020293,Orphanet,ORPHA:183539,Group of disorders,Category,Genetic renal or urinary tract malformation, +GARD:0020294,Orphanet,ORPHA:183542,Group of disorders,Category,Genetic cranial malformation, +GARD:0020295,Orphanet,ORPHA:183545,Group of disorders,Category,Genetic digestive tract malformation, +GARD:0020296,Orphanet,ORPHA:183548,Group of disorders,Category,"Genetic visceral malformation of the liver, biliary tract, pancreas or spleen", +GARD:0020297,Orphanet,ORPHA:183554,Group of disorders,Category,Genetic respiratory or mediastinal malformation, +GARD:0020298,Orphanet,ORPHA:183557,Group of disorders,Category,Genetic developmental defect of the eye, +GARD:0020299,Orphanet,ORPHA:183570,Group of disorders,Category,Genetic malformation syndrome with short stature, +GARD:0020300,Orphanet,ORPHA:183573,Group of disorders,Category,Genetic overgrowth/obesity syndrome, +GARD:0020301,Orphanet,ORPHA:183576,Group of disorders,Category,Genetic branchial arch or oral-acral syndrome, +GARD:0020302,Orphanet,ORPHA:183580,Group of disorders,Category,Genetic malformation syndrome with odontal and/or periodontal component, +GARD:0020303,Orphanet,ORPHA:183583,Group of disorders,Category,Genetic head and neck malformation, +GARD:0020304,Orphanet,ORPHA:183586,Group of disorders,Category,Genetic glomerular disease, +GARD:0020305,Orphanet,ORPHA:183589,Group of disorders,Category,Genetic thrombotic microangiopathy, +GARD:0020306,Orphanet,ORPHA:183592,Group of disorders,Category,Genetic renal tubular disease, +GARD:0020307,Orphanet,ORPHA:183595,Group of disorders,Category,Genetic renal tumor, +GARD:0020308,Orphanet,ORPHA:183607,Group of disorders,Category,Genetic lens and zonula anomaly, +GARD:0020309,Orphanet,ORPHA:183616,Group of disorders,Category,Genetic neuro-ophthalmological disease, +GARD:0020310,Orphanet,ORPHA:183619,Group of disorders,Category,Genetic eye tumor, +GARD:0020311,Orphanet,ORPHA:183622,Group of disorders,Category,Genetic respiratory malformation, +GARD:0020312,Orphanet,ORPHA:183625,Group of disorders,Category,Rare genetic diabetes mellitus, +GARD:0020313,Orphanet,ORPHA:183628,Group of disorders,Category,Rare genetic hypothalamic or pituitary disease, +GARD:0020314,Orphanet,ORPHA:183631,Group of disorders,Category,Rare genetic thyroid disease, +GARD:0020315,Orphanet,ORPHA:183634,Group of disorders,Category,Rare genetic parathyroid disease and phosphocalcic metabolism disorder, +GARD:0020316,Orphanet,ORPHA:183637,Group of disorders,Category,Rare genetic adrenal disease, +GARD:0020317,Orphanet,ORPHA:183643,Group of disorders,Category,Genetic polyendocrinopathy, +GARD:0020318,Orphanet,ORPHA:183651,Group of disorders,Category,Rare constitutional anemia, +GARD:0020319,Orphanet,ORPHA:183654,Group of disorders,Category,Rare genetic coagulation disorder, +GARD:0020320,Orphanet,ORPHA:183669,Group of disorders,Category,Agammaglobulinemia, +GARD:0020321,Orphanet,ORPHA:183681,Group of disorders,Category,Functional neutrophil defect, +GARD:0020322,Orphanet,ORPHA:183710,Group of disorders,Category,Genetic susceptibility to infections due to particular pathogens, +GARD:0020323,Orphanet,ORPHA:183731,Group of disorders,Category,Rare genetic gynecological and obstetrical diseases, +GARD:0020324,Orphanet,ORPHA:183734,Group of disorders,Category,Genetic gynecological tumor, +GARD:0020325,Orphanet,ORPHA:183757,Group of disorders,Category,Rare genetic intellectual disability, +GARD:0020326,Orphanet,ORPHA:183763,Group of disorders,Category,Rare genetic syndromic intellectual disability, +GARD:0020327,Orphanet,ORPHA:183770,Group of disorders,Category,Rare genetic immune disease, +GARD:0020328,Orphanet,ORPHA:199257,Group of disorders,Clinical group,Superficial fibromatosis, +GARD:0020329,Orphanet,ORPHA:199260,Disorder,Disease,Calcifying aponeurotic fibroma,Juvenile aponeurotic fibromatosis|Keasby tumor +GARD:0020330,Orphanet,ORPHA:199293,Disorder,Morphological anomaly,Congenital microgastria, +GARD:0020331,Orphanet,ORPHA:199299,Disorder,Disease,Late-onset isolated ACTH deficiency, +GARD:0020332,Orphanet,ORPHA:199310,Disorder,Malformation syndrome,Tetragametic chimerism,"46,XX/46,XY chimerism" +GARD:0020333,Orphanet,ORPHA:199323,Disorder,Disease,Endophthalmitis, +GARD:0020334,Orphanet,ORPHA:199326,Disorder,Disease,"Isolated autosomal dominant hypomagnesemia, Glaudemans type", +GARD:0020335,Orphanet,ORPHA:199329,Disorder,Disease,"Congenital myopathy, Paradas type", +GARD:0020336,Orphanet,ORPHA:199627,Disorder,Disease,Atypical autism, +GARD:0020337,Orphanet,ORPHA:199630,Disorder,Morphological anomaly,Isolated cerebellar vermis hypoplasia, +GARD:0020338,Orphanet,ORPHA:199633,Group of disorders,Category,Non-syndromic cerebral malformation,Non-syndromic brain malformation +GARD:0020339,Orphanet,ORPHA:199639,Group of disorders,Category,Syndrome with corpus callosum agenesis/dysgenesis as a major feature, +GARD:0020340,Orphanet,ORPHA:200037,Group of disorders,Clinical group,Paroxysmal dystonia, +GARD:0020341,Orphanet,ORPHA:202940,Group of disorders,Category,Anomaly of puberty or/and menstrual cycle of genetic origin, +GARD:0020342,Orphanet,ORPHA:202948,Group of disorders,Category,Syndromic microphthalmia-anophthalmia-coloboma,Syndromic microphthalmia +GARD:0020343,Orphanet,ORPHA:206436,Subtype of disorder,Clinical subtype,Infantile Krabbe disease,"Krabbe disease, classic form|Krabbe disease, early-onset" +GARD:0020344,Orphanet,ORPHA:206443,Subtype of disorder,Clinical subtype,Late-infantile/juvenile Krabbe disease,"Krabbe disease, late-onset" +GARD:0020345,Orphanet,ORPHA:206448,Subtype of disorder,Clinical subtype,Adult Krabbe disease, +GARD:0020346,Orphanet,ORPHA:206470,Disorder,Disease,Cystadenoma of childhood,Cystadenoma of ovary in childhood +GARD:0020347,Orphanet,ORPHA:206489,Disorder,Disease,Malignant germ cell tumor of the vagina,Vaginal germ cell cancer|Vaginal germ cell malignant tumor +GARD:0020348,Orphanet,ORPHA:206492,Disorder,Disease,Vulvovaginal rhabdomyosarcoma, +GARD:0020349,Orphanet,ORPHA:206538,Disorder,Disease,Malignant non-dysgerminomatous germ cell tumor of ovary,Non-dysgerminomatous germ cell cancer of ovary +GARD:0020350,Orphanet,ORPHA:206546,Disorder,Disease,Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers, +GARD:0020351,Orphanet,ORPHA:206569,Disorder,Disease,Immune-mediated necrotizing myopathy,Anti-HMG-CoA myopathy|Anti-SRP myopathy|Autoimmune necrotizing myositis|IMNM|Immune myopathy with myocyte necrosis|NAM +GARD:0020352,Orphanet,ORPHA:206572,Disorder,Disease,Overlap myositis,Adult-onset overlap myositis|Non-specific myositis +GARD:0020353,Orphanet,ORPHA:206575,Disorder,Disease,Rippling muscle disease with myasthenia gravis,Acquired rippling muscle disease|Immune-mediated rippling muscle disease +GARD:0020354,Orphanet,ORPHA:206586,Disorder,Disease,Neurolymphomatosis, +GARD:0020355,Orphanet,ORPHA:206594,Disorder,Disease,Subacute inflammatory demyelinating polyneuropathy,Subacute inflammatory demyelinating polyradiculoneuropathy +GARD:0020356,Orphanet,ORPHA:206599,Disorder,Biological anomaly,Isolated asymptomatic elevation of creatine phosphokinase,Idiopathic asymptomatic hyperCKemia|Isolated asymptomatic hyperCKemia +GARD:0020357,Orphanet,ORPHA:206613,Group of disorders,Category,Infectious disease with peripheral neuropathy, +GARD:0020358,Orphanet,ORPHA:206634,Group of disorders,Category,Genetic skeletal muscle disease, +GARD:0020359,Orphanet,ORPHA:206638,Group of disorders,Category,Acquired skeletal muscle disease, +GARD:0020360,Orphanet,ORPHA:206644,Group of disorders,Category,Progressive muscular dystrophy, +GARD:0020361,Orphanet,ORPHA:206650,Group of disorders,Category,Autosomal dominant distal myopathy, +GARD:0020362,Orphanet,ORPHA:206653,Group of disorders,Category,Autosomal recessive distal myopathy, +GARD:0020363,Orphanet,ORPHA:206656,Group of disorders,Category,Non-dystrophic myopathy, +GARD:0020364,Orphanet,ORPHA:206662,Group of disorders,Category,Inclusion myopathy, +GARD:0020365,Orphanet,ORPHA:206701,Group of disorders,Category,Bulbospinal muscular atrophy, +GARD:0020366,Orphanet,ORPHA:206704,Group of disorders,Clinical group,Bulbospinal muscular atrophy of childhood, +GARD:0020367,Orphanet,ORPHA:206707,Group of disorders,Clinical group,Bulbospinal muscular atrophy of adult, +GARD:0020368,Orphanet,ORPHA:206710,Group of disorders,Clinical group,Generalized bulbospinal muscular atrophy, +GARD:0020369,Orphanet,ORPHA:206953,Group of disorders,Category,Muscular lipidosis,Lipid storage myopathy +GARD:0020370,Orphanet,ORPHA:206959,Group of disorders,Clinical group,Muscular glycogenosis,Glycogen storage myopathy +GARD:0020371,Orphanet,ORPHA:206966,Group of disorders,Category,Mitochondrial myopathy, +GARD:0020372,Orphanet,ORPHA:206970,Group of disorders,Category,Myotonic syndrome, +GARD:0020373,Orphanet,ORPHA:206973,Group of disorders,Clinical group,Congenital myotonia, +GARD:0020374,Orphanet,ORPHA:206976,Group of disorders,Clinical group,Periodic paralysis, +GARD:0020375,Orphanet,ORPHA:206982,Group of disorders,Category,Muscular tumor, +GARD:0020376,Orphanet,ORPHA:206988,Group of disorders,Category,"Infectious, fungal or parasitic myopathy", +GARD:0020377,Orphanet,ORPHA:206991,Disorder,Disease,Viral myositis, +GARD:0020378,Orphanet,ORPHA:206994,Disorder,Disease,Bacterial myositis, +GARD:0020379,Orphanet,ORPHA:206997,Group of disorders,Category,Parasitic myositis, +GARD:0020380,Orphanet,ORPHA:207000,Disorder,Disease,Fungal myositis, +GARD:0020381,Orphanet,ORPHA:207012,Group of disorders,Clinical group,Spinal muscular atrophy associated with central nervous system anomaly, +GARD:0020382,Orphanet,ORPHA:207018,Group of disorders,Category,Rare hereditary metabolic disease with peripheral neuropathy, +GARD:0020383,Orphanet,ORPHA:207021,Group of disorders,Category,Rare hereditary systemic disease with peripheral neuropathy, +GARD:0020384,Orphanet,ORPHA:207025,Group of disorders,Category,Rare hereditary neurologic disease with peripheral neuropathy, +GARD:0020385,Orphanet,ORPHA:207028,Group of disorders,Category,Cerebellar ataxia with peripheral neuropathy, +GARD:0020386,Orphanet,ORPHA:207038,Group of disorders,Category,Acute and subacute inflammatory demyelinating polyneuropathy,Acute and subacute inflammatory demyelinating polyradiculoneuropathy +GARD:0020387,Orphanet,ORPHA:207046,Group of disorders,Category,Malignant lymphoma with peripheral neuropathy, +GARD:0020388,Orphanet,ORPHA:207049,Group of disorders,Category,Qualitative or quantitative protein defects in neuromuscular diseases, +GARD:0020389,Orphanet,ORPHA:207052,Group of disorders,Category,Qualitative or quantitative defects of sarcoglycan,Sarcoglycanopathy +GARD:0020390,Orphanet,ORPHA:207060,Group of disorders,Category,Qualitative or quantitative defects of alpha-sarcoglycan, +GARD:0020391,Orphanet,ORPHA:207063,Group of disorders,Category,Qualitative or quantitative defects of beta-sarcoglycan, +GARD:0020392,Orphanet,ORPHA:207067,Group of disorders,Category,Qualitative or quantitative defects of gamma-sarcoglycan, +GARD:0020393,Orphanet,ORPHA:207070,Group of disorders,Category,Qualitative or quantitative defects of delta-sarcoglycan, +GARD:0020394,Orphanet,ORPHA:207078,Group of disorders,Category,Qualitative or quantitative defects of caveolin-3,Caveolinopathy +GARD:0020395,Orphanet,ORPHA:207090,Group of disorders,Category,Qualitative or quantitative defects of collagen 6, +GARD:0020396,Orphanet,ORPHA:207094,Group of disorders,Category,Laminin subunit alpha 2-related muscular dystrophy,LAMA2-related muscular dystrophy|Qualitative or quantitative defects of merosin +GARD:0020397,Orphanet,ORPHA:207098,Group of disorders,Category,Qualitative or quantitative defects of integrin alpha-7,Integrinopathy +GARD:0020398,Orphanet,ORPHA:207101,Group of disorders,Category,Qualitative or quantitative defects of perlecan, +GARD:0020399,Orphanet,ORPHA:207104,Group of disorders,Category,Qualitative or quantitative defects of calpain, +GARD:0020400,Orphanet,ORPHA:207107,Group of disorders,Category,Qualitative or quantitative defects of TRIM32, +GARD:0020401,Orphanet,ORPHA:207110,Group of disorders,Category,Qualitative or quantitative defects of myotubularin, +GARD:0020402,Orphanet,ORPHA:207113,Group of disorders,Category,Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan,Secondary alpha-dystroglycanopathy|Secondary dystroglycanopathy +GARD:0020403,Orphanet,ORPHA:207119,Group of disorders,Category,Qualitative or quantitative defects of FKRP, +GARD:0020404,Orphanet,ORPHA:207122,Group of disorders,Category,Qualitative or quantitative defects of fukutin, +GARD:0020405,Orphanet,ORPHA:208508,Group of disorders,Clinical group,Autosomal dominant cerebellar ataxia type II,ADCA2|ADCAII|Autosomal dominant cerebellar ataxia type 2 +GARD:0020406,Orphanet,ORPHA:208524,Disorder,Disease,Herpetiform pemphigus, +GARD:0020407,Orphanet,ORPHA:208593,Group of disorders,Category,Genetic hypoparathyroidism, +GARD:0020408,Orphanet,ORPHA:208596,Group of disorders,Category,Genetic hyperparathyroidism, +GARD:0020409,Orphanet,ORPHA:208974,Group of disorders,Clinical group,Chronic acquired demyelinating polyneuropathy,CADP +GARD:0020410,Orphanet,ORPHA:208978,Group of disorders,Clinical group,Chronic polyradiculoneuropathy, +GARD:0020411,Orphanet,ORPHA:208981,Disorder,Disease,Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies, +GARD:0020412,Orphanet,ORPHA:208984,Group of disorders,Category,Acquired sensory ganglionopathy,Acquired sensory neuronopathy +GARD:0020413,Orphanet,ORPHA:208989,Disorder,Disease,Non-paraneoplastic sensory ganglionopathy,Non-paraneoplastic sensory neuronopathy +GARD:0020414,Orphanet,ORPHA:208999,Disorder,Disease,Paraneoplastic sensory ganglionopathy,Paraneoplastic sensory neuronopathy +GARD:0020415,Orphanet,ORPHA:209004,Disorder,Disease,Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy, +GARD:0020416,Orphanet,ORPHA:209007,Group of disorders,Category,Systemic inflammatory disease associated with an acquired peripheral neuropathy, +GARD:0020417,Orphanet,ORPHA:209010,Group of disorders,Category,Peripheral neuropathy associated with monoclonal gammopathy, +GARD:0020418,Orphanet,ORPHA:209013,Group of disorders,Category,Acquired amyloid peripheral neuropathy, +GARD:0020419,Orphanet,ORPHA:209016,Group of disorders,Category,Hematological disease associated with an acquired peripheral neuropathy, +GARD:0020420,Orphanet,ORPHA:209019,Group of disorders,Category,Solid tumor associated with an acquired peripheral neuropathy, +GARD:0020421,Orphanet,ORPHA:209024,Group of disorders,Category,"Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase",Qualitative or quantitative defects of protein POMGNT1 +GARD:0020422,Orphanet,ORPHA:209027,Group of disorders,Category,Qualitative or quantitative defects of protein glycosyltransferase-like, +GARD:0020423,Orphanet,ORPHA:209030,Group of disorders,Category,Qualitative or quantitative defects of protein O-mannosyltransferase 1, +GARD:0020424,Orphanet,ORPHA:209033,Group of disorders,Category,Qualitative or quantitative defects of protein O-mannosyltransferase 2, +GARD:0020425,Orphanet,ORPHA:209038,Group of disorders,Category,Qualitative or quantitative defects of myofibrillar proteins, +GARD:0020426,Orphanet,ORPHA:209041,Group of disorders,Category,Qualitative or quantitative defects of desmin, +GARD:0020427,Orphanet,ORPHA:209044,Group of disorders,Category,Qualitative or quantitative defects of alphaB-cristallin, +GARD:0020428,Orphanet,ORPHA:209047,Group of disorders,Category,Qualitative or quantitative defects of filamin C, +GARD:0020429,Orphanet,ORPHA:209050,Group of disorders,Category,Qualitative or quantitative defects of protein ZASP, +GARD:0020430,Orphanet,ORPHA:209053,Group of disorders,Category,Qualitative or quantitative defects of titin, +GARD:0020431,Orphanet,ORPHA:209056,Group of disorders,Category,Qualitative or quantitative defects of telethonin, +GARD:0020432,Orphanet,ORPHA:209059,Group of disorders,Category,Qualitative or quantitative defects of alpha-actin, +GARD:0020433,Orphanet,ORPHA:209182,Group of disorders,Category,Qualitative or quantitative defects of nebulin, +GARD:0020434,Orphanet,ORPHA:209185,Group of disorders,Category,Qualitative or quantitative defects of beta-myosin heavy chain (MYH7), +GARD:0020435,Orphanet,ORPHA:209188,Group of disorders,Category,Qualitative or quantitative defects of emerin, +GARD:0020436,Orphanet,ORPHA:209193,Group of disorders,Category,Qualitative or quantitative defects of selenoprotein N1, +GARD:0020437,Orphanet,ORPHA:209196,Group of disorders,Category,Qualitative or quantitative defects of plectin, +GARD:0020438,Orphanet,ORPHA:209199,Group of disorders,Category,Qualitative or quantitative defects of protein SERCA1, +GARD:0020439,Orphanet,ORPHA:209203,Group of disorders,Category,Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -, +GARD:0020440,Orphanet,ORPHA:209224,Group of disorders,Category,Myotilinopathy,Qualitative or quantitative defects of myotilin +GARD:0020441,Orphanet,ORPHA:209902,Disorder,Disease,Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency, +GARD:0020442,Orphanet,ORPHA:209956,Disorder,Disease,Idiopathic uveal effusion syndrome, +GARD:0020443,Orphanet,ORPHA:209959,Disorder,Disease,Phacoanaphylactic uveitis,Endophthalmitis phacoanaphylactica|Lens-induced endophthalmitis|Lens-induced iridocyclitis|Lens-induced uveitis|Phacoallergic endophthalmitis|Phacoantigenic endophthalmitis|Phako-anaphylactic endophthalmitis +GARD:0020444,Orphanet,ORPHA:209964,Disorder,Disease,Solitary rectal ulcer syndrome, +GARD:0020445,Orphanet,ORPHA:209973,Disorder,Disease,Benign nocturnal alternating hemiplegia of childhood, +GARD:0020446,Orphanet,ORPHA:209978,Group of disorders,Clinical group,Alternating hemiplegia, +GARD:0020447,Orphanet,ORPHA:209989,Disorder,Disease,Non-papillary transitional cell carcinoma of the bladder,Non-papillary urothelial carcinoma +GARD:0020448,Orphanet,ORPHA:210133,Disorder,Disease,Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome, +GARD:0020449,Orphanet,ORPHA:210136,Disorder,Disease,Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome, +GARD:0020450,Orphanet,ORPHA:210576,Disorder,Disease,Congenital temporomandibular joint ankylosis,Congenital trismus +GARD:0020451,Orphanet,ORPHA:210581,Group of disorders,Category,Temporomandibular joint anomaly, +GARD:0020452,Orphanet,ORPHA:210584,Disorder,Disease,Spindle cell hemangioma,Spindle cell hemangioendothelioma +GARD:0020453,Orphanet,ORPHA:210589,Group of disorders,Clinical group,Infantile hemangioma of rare localization, +GARD:0020454,Orphanet,ORPHA:211037,Group of disorders,Clinical group,Autosomal dominant proximal spinal muscular atrophy, +GARD:0020455,Orphanet,ORPHA:211047,Group of disorders,Clinical group,Specific learning disability,Specific learning difficulty|Specific learning disorder +GARD:0020456,Orphanet,ORPHA:211053,Group of disorders,Clinical group,Specific language disorder,Dysphasia +GARD:0020457,Orphanet,ORPHA:211062,Group of disorders,Category,Hereditary episodic ataxia, +GARD:0020458,Orphanet,ORPHA:211237,Group of disorders,Category,Rare vascular tumor, +GARD:0020459,Orphanet,ORPHA:211240,Group of disorders,Category,Genetic vascular anomaly, +GARD:0020460,Orphanet,ORPHA:211243,Group of disorders,Category,Simple vascular malformation, +GARD:0020461,Orphanet,ORPHA:211247,Group of disorders,Category,Rare capillary malformation, +GARD:0020462,Orphanet,ORPHA:211252,Group of disorders,Category,Rare venous malformation, +GARD:0020463,Orphanet,ORPHA:211255,Group of disorders,Category,Rare lymphatic system anomaly, +GARD:0020464,Orphanet,ORPHA:211266,Group of disorders,Category,Rare arteriovenous malformation, +GARD:0020465,Orphanet,ORPHA:211277,Group of disorders,Category,Complex vascular malformation with associated anomalies,Hemangiolymphangioma +GARD:0020466,Orphanet,ORPHA:213504,Disorder,Disease,Adenocarcinoma of ovary,Ovarian adenocarcinoma +GARD:0020467,Orphanet,ORPHA:213517,Group of disorders,Clinical group,Familial ovarian cancer,Familial ovarian malignant tumor +GARD:0020468,Orphanet,ORPHA:213524,Disorder,Disease,Hereditary site-specific ovarian cancer syndrome, +GARD:0020469,Orphanet,ORPHA:213564,Group of disorders,Category,Rare uterine cancer,Rare cancer of uterus|Rare malignant tumor of uterus|Rare uterine malignant tumor +GARD:0020470,Orphanet,ORPHA:213569,Group of disorders,Category,Rare cancer of corpus uteri,Rare malignant tumor of corpus uteri +GARD:0020471,Orphanet,ORPHA:213574,Disorder,Disease,Rare variants of adenocarcinoma of the corpus uteri, +GARD:0020472,Orphanet,ORPHA:213589,Group of disorders,Clinical group,Malignant mixed epithelial and mesenchymal tumor of corpus uteri,Mixed epithelial and mesenchymal cancer of corpus uteri +GARD:0020473,Orphanet,ORPHA:213600,Disorder,Disease,Adenosarcoma of the corpus uteri, +GARD:0020474,Orphanet,ORPHA:213605,Disorder,Disease,Carcinofibroma of the corpus uteri, +GARD:0020475,Orphanet,ORPHA:213615,Disorder,Disease,Rhabdomyosarcoma of the corpus uteri, +GARD:0020476,Orphanet,ORPHA:213620,Group of disorders,Clinical group,Sarcoma of the corpus uteri, +GARD:0020477,Orphanet,ORPHA:213625,Disorder,Disease,Leiomyosarcoma of the corpus uteri, +GARD:0020478,Orphanet,ORPHA:213630,Disorder,Disease,Primitive neuroectodermal tumor of the corpus uteri,Malignant peripheral neuroectodermal tumor of the corpus uteri|Peripheral neuroectodermal cancer of the corpus uteri +GARD:0020479,Orphanet,ORPHA:213716,Disorder,Disease,Squamous cell carcinoma of the corpus uteri,Endometrial squamous cell carcinoma +GARD:0020480,Orphanet,ORPHA:213721,Disorder,Disease,Undifferentiated carcinoma of the corpus uteri,Endometrial undifferentiated carcinoma +GARD:0020481,Orphanet,ORPHA:213726,Disorder,Disease,Serous carcinoma of the corpus uteri,Endometrial serous carcinoma +GARD:0020482,Orphanet,ORPHA:213731,Disorder,Disease,High-grade neuroendocrine carcinoma of the corpus uteri,High-grade neuroendocrine carcinoma of the uterine corpus|Poorly differentiated neuroendocrine carcinoma of the corpus uteri|Poorly differentiated neuroendocrine carcinoma of the endometrium +GARD:0020483,Orphanet,ORPHA:213736,Disorder,Disease,Low-grade neuroendocrine tumor of the corpus uteri,Low-grade neuroendocrine tumor of the uterine corpus|Well-differentiated neuroendocrine neoplasm of the endometrium|Well-differentiated neuroendocrine tumor of the corpus uteri|Well-differentiated neuroendocrine tumor of the endometrium +GARD:0020484,Orphanet,ORPHA:213746,Disorder,Disease,Transitional cell carcinoma of the corpus uteri,Endometrial transitional cell carcinoma +GARD:0020485,Orphanet,ORPHA:213751,Disorder,Disease,Malignant germ cell tumor of the corpus uteri,Germ cell cancer of the corpus uteri +GARD:0020486,Orphanet,ORPHA:213761,Group of disorders,Category,Rare cancer of cervix uteri,Rare cervical cancer|Rare cervical malignant tumor|Rare malignant tumor of cervix uteri +GARD:0020487,Orphanet,ORPHA:213767,Disorder,Disease,Squamous cell carcinoma of the cervix uteri,Cervical squamous cell carcinoma +GARD:0020488,Orphanet,ORPHA:213772,Disorder,Disease,Adenocarcinoma of the cervix uteri,Cervical adenocarcinoma +GARD:0020489,Orphanet,ORPHA:213777,Disorder,Disease,High-grade neuroendocrine carcinoma of the cervix uteri,High-grade neuroendocrine carcinoma of the uterine cervix|Poorly differentiated neuroendocrine carcinoma of the cervix uteri|Poorly differentiated neuroendocrine cervical carcinoma +GARD:0020490,Orphanet,ORPHA:213782,Group of disorders,Clinical group,Malignant mixed epithelial and mesenchymal tumor of cervix uteri,Cervical malignant mixed epithelial and mesenchymal tumor|Mixed epithelial and mesenchymal cancer of cervix uteri +GARD:0020491,Orphanet,ORPHA:213787,Disorder,Disease,Carcinosarcoma of the cervix uteri,Cervical carcinosarcoma|Cervical malignant Müllerian mixed tumor|Malignant Müllerian mixed tumor of the cervix uteri +GARD:0020492,Orphanet,ORPHA:213792,Disorder,Disease,Adenosarcoma of the cervix uteri,Cervical adenosarcoma +GARD:0020493,Orphanet,ORPHA:213797,Group of disorders,Clinical group,Sarcoma of cervix uteri,Cervical malignant mesenchymal tumor|Cervical sarcoma|Malignant mesenchymal tumor of cervix uteri +GARD:0020494,Orphanet,ORPHA:213802,Disorder,Disease,Rhabdomyosarcoma of the cervix uteri,Cervical rhabdomyosarcoma +GARD:0020495,Orphanet,ORPHA:213807,Disorder,Disease,Leiomyosarcoma of the cervix uteri,Cervical leiomyosarcoma +GARD:0020496,Orphanet,ORPHA:213812,Disorder,Disease,Primitive neuroectodermal tumor of the cervix uteri,Cervical malignant peripheral neuroectodermal tumor|Cervical peripheral neuroectodermal cancer|Malignant peripheral neuroectodermal tumor of the cervix uteri|Peripheral neuroectodermal cancer of cervix uteri +GARD:0020497,Orphanet,ORPHA:213817,Disorder,Disease,Papillary carcinoma of the cervix uteri,Cervical papillary carcinoma +GARD:0020498,Orphanet,ORPHA:213823,Disorder,Disease,Adenoid cystic carcinoma of the cervix uteri,Cervical adenoid cystic carcinoma +GARD:0020499,Orphanet,ORPHA:213828,Disorder,Disease,Adenoid basal carcinoma of the cervix uteri,Cervical adenoid basal carcinoma +GARD:0020500,Orphanet,ORPHA:213833,Disorder,Disease,Glassy cell carcinoma of the cervix uteri, +GARD:0020501,Orphanet,ORPHA:213837,Disorder,Disease,Malignant germ cell tumor of the cervix uteri,Cervical germ cell cancer|Cervical malignant germ cell tumor|Germ cell cancer of the cervix uteri +GARD:0020502,Orphanet,ORPHA:216718,Subtype of disorder,Clinical subtype,Isolated congenitally uncorrected transposition of the great arteries,Isolated congenitally uncorrected transposition of the great vessels +GARD:0020503,Orphanet,ORPHA:216729,Subtype of disorder,Clinical subtype,Congenitally uncorrected transposition of the great arteries with cardiac malformation,Congenitally uncorrected transposition of the great vessels with cardiac malformation|TGA with cardiac malformation +GARD:0020504,Orphanet,ORPHA:216972,Subtype of disorder,Clinical subtype,"Niemann-Pick disease type C, severe perinatal form", +GARD:0020505,Orphanet,ORPHA:216975,Subtype of disorder,Clinical subtype,"Niemann-Pick disease type C, severe early infantile neurologic onset", +GARD:0020506,Orphanet,ORPHA:216978,Subtype of disorder,Clinical subtype,"Niemann-Pick disease type C, late infantile neurologic onset", +GARD:0020507,Orphanet,ORPHA:216981,Subtype of disorder,Clinical subtype,"Niemann-Pick disease type C, juvenile neurologic onset","Niemann-Pick disease type C, classic form" +GARD:0020508,Orphanet,ORPHA:216986,Subtype of disorder,Clinical subtype,"Niemann-Pick disease type C, adult neurologic onset", +GARD:0020509,Orphanet,ORPHA:217064,Disorder,Particular clinical situation in a disease or syndrome,5-fluorouracil poisoning,5-fluorouracil intoxication +GARD:0020510,Orphanet,ORPHA:217067,Disorder,Particular clinical situation in a disease or syndrome,Pouchitis, +GARD:0020511,Orphanet,ORPHA:217074,Group of disorders,Category,Rare carcinoma of pancreas,Rare pancreatic carcinoma +GARD:0020512,Orphanet,ORPHA:217080,Disorder,Particular clinical situation in a disease or syndrome,Pulmonary fungal infections in patients deemed at risk, +GARD:0020513,Orphanet,ORPHA:217253,Disorder,Disease,NMDA receptor encephalitis,Limbic encephalitis with N-methyl-D-aspartate receptor antibodies|Limbic encephalitis with NMDA receptor antibodies|N-methyl-D-aspartate receptor encephalitis|NMDARE|anti-NMDA receptor encephalitis +GARD:0020514,Orphanet,ORPHA:217399,Disorder,Disease,Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation,Congenital absence of pain with hyperhidrosis|Congenital analgesia with hyperhidrosis|Congenital indifference to pain with hyperhidrosis|Congenital insensitivity to pain with hyperhidrosis +GARD:0020515,Orphanet,ORPHA:217454,Group of disorders,Clinical group,Rare hereditary thrombophilia, +GARD:0020516,Orphanet,ORPHA:217557,Disorder,Disease,Pulmonary interstitial glycogenosis,Infantile cellular interstitial pneumonitis|PIG +GARD:0020517,Orphanet,ORPHA:217560,Disorder,Disease,Neuroendocrine cell hyperplasia of infancy,NCHI|NEHI +GARD:0020518,Orphanet,ORPHA:217569,Group of disorders,Category,Rare hypertrophic cardiomyopathy, +GARD:0020519,Orphanet,ORPHA:217572,Group of disorders,Category,Glycogen storage disease with hypertrophic cardiomyopathy,GSD with hypertrophic cardiomyopathy|Glycogenosis with hypertrophic cardiomyopathy +GARD:0020520,Orphanet,ORPHA:217581,Group of disorders,Category,Lysosomal disease with hypertrophic cardiomyopathy, +GARD:0020521,Orphanet,ORPHA:217587,Group of disorders,Category,Mitochondrial disease with hypertrophic cardiomyopathy, +GARD:0020522,Orphanet,ORPHA:217591,Group of disorders,Category,Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy, +GARD:0020523,Orphanet,ORPHA:217595,Group of disorders,Category,Syndrome associated with hypertrophic cardiomyopathy, +GARD:0020524,Orphanet,ORPHA:217598,Group of disorders,Category,Non-familial hypertrophic cardiomyopathy, +GARD:0020525,Orphanet,ORPHA:217607,Group of disorders,Category,Familial dilated cardiomyopathy, +GARD:0020526,Orphanet,ORPHA:217610,Group of disorders,Category,Neuromuscular disease with dilated cardiomyopathy, +GARD:0020527,Orphanet,ORPHA:217613,Group of disorders,Category,Mitochondrial disease with dilated cardiomyopathy, +GARD:0020528,Orphanet,ORPHA:217616,Group of disorders,Category,Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy, +GARD:0020529,Orphanet,ORPHA:217619,Group of disorders,Category,Syndrome associated with dilated cardiomyopathy, +GARD:0020530,Orphanet,ORPHA:217629,Group of disorders,Category,Non-familial dilated cardiomyopathy, +GARD:0020531,Orphanet,ORPHA:217632,Group of disorders,Category,Restrictive cardiomyopathy, +GARD:0020532,Orphanet,ORPHA:217635,Group of disorders,Category,Familial restrictive cardiomyopathy, +GARD:0020533,Orphanet,ORPHA:217638,Group of disorders,Category,Lysosomal disease with restrictive cardiomyopathy, +GARD:0020534,Orphanet,ORPHA:217678,Group of disorders,Category,Unclassified cardiomyopathy, +GARD:0020535,Orphanet,ORPHA:217720,Group of disorders,Category,Non-familial restrictive cardiomyopathy, +GARD:0020536,Orphanet,ORPHA:218436,Group of disorders,Category,Rare cardiac rhythm disease, +GARD:0020537,Orphanet,ORPHA:218439,Group of disorders,Category,Non-genetic cardiac rhythm disease, +GARD:0020538,Orphanet,ORPHA:220448,Disorder,Disease,Macrothrombocytopenia with mitral valve insufficiency, +GARD:0020539,Orphanet,ORPHA:220452,Group of disorders,Category,Isolated hereditary giant platelet disorder,Isolated hereditary macrothrombocytopenia|Isolated inherited giant platelet disorder|Isolated inherited macrothrombocytopenia +GARD:0020540,Orphanet,ORPHA:220489,Group of disorders,Category,Rare hereditary hemochromatosis,Iron overload disease +GARD:0020541,Orphanet,ORPHA:221078,Disorder,Disease,Combined hyperactive dysfunction syndrome of the cranial nerves, +GARD:0020542,Orphanet,ORPHA:221109,Group of disorders,Clinical group,Cranial neuralgia,Facial neuralgia +GARD:0020543,Orphanet,ORPHA:221114,Group of disorders,Category,Acquired peripheral movement disorder, +GARD:0020544,Orphanet,ORPHA:221142,Disorder,Disease,Confetti-like macular atrophy, +GARD:0020545,Orphanet,ORPHA:222628,Group of disorders,Category,Hereditary poikiloderma, +GARD:0020546,Orphanet,ORPHA:223713,Group of disorders,Category,Mitochondrial oxidative phosphorylation disorder,OXPHOS disease +GARD:0020547,Orphanet,ORPHA:223727,Group of disorders,Clinical group,Bone sarcoma, +GARD:0020548,Orphanet,ORPHA:223735,Group of disorders,Category,Lymphoma, +GARD:0020549,Orphanet,ORPHA:225147,Disorder,Disease,Sporadic infantile bilateral striatal necrosis,ABSN|Acute bilateral striatal necrosis|Sporadic IBSN|Sporadic infantile striatonigral degeneration|Sporadic infantile striatonigral necrosis +GARD:0020550,Orphanet,ORPHA:225681,Group of disorders,Category,Lysosomal disease with epilepsy, +GARD:0020551,Orphanet,ORPHA:225686,Group of disorders,Category,Peroxisomal disease with epilepsy, +GARD:0020552,Orphanet,ORPHA:225689,Group of disorders,Category,Amino acid or protein metabolism disease with epilepsy, +GARD:0020553,Orphanet,ORPHA:225692,Group of disorders,Category,Metal transport or utilization disorder with epilepsy, +GARD:0020554,Orphanet,ORPHA:225696,Group of disorders,Category,Energy metabolism disorder with epilepsy, +GARD:0020555,Orphanet,ORPHA:225700,Group of disorders,Category,Mitochondrial disease with epilepsy, +GARD:0020556,Orphanet,ORPHA:225703,Group of disorders,Category,Mitochondrial disease with peripheral neuropathy, +GARD:0020557,Orphanet,ORPHA:225707,Group of disorders,Category,Metabolic neurotransmission anomaly with epilepsy, +GARD:0020558,Orphanet,ORPHA:225710,Group of disorders,Category,Sterol metabolism disorder with epilepsy, +GARD:0020559,Orphanet,ORPHA:225713,Group of disorders,Category,Other metabolic disease with epilepsy, +GARD:0020560,Orphanet,ORPHA:226292,Group of disorders,Category,Permanent congenital hypothyroidism, +GARD:0020561,Orphanet,ORPHA:226295,Group of disorders,Clinical group,Primary congenital hypothyroidism, +GARD:0020562,Orphanet,ORPHA:226307,Disorder,Disease,Hypothyroidism due to deficient transcription factors involved in pituitary development or function, +GARD:0020563,Orphanet,ORPHA:226313,Disorder,Disease,Congenital hypothyroidism due to maternal intake of antithyroid drugs, +GARD:0020564,Orphanet,ORPHA:226316,Disorder,Disease,Genetic transient congenital hypothyroidism, +GARD:0020565,Orphanet,ORPHA:227510,Subtype of disorder,Clinical subtype,"Multiple system atrophy, cerebellar type","MSA, cerebellar type|MSA-c|Sporadic OPCA type 1|Sporadic olivopontocerebellar atrophy type 1" +GARD:0020566,Orphanet,ORPHA:227972,Disorder,Disease,Toxic oil syndrome, +GARD:0020567,Orphanet,ORPHA:227990,Disorder,Disease,Autoimmune polyendocrinopathy type 4,APS type 4|APS4|Autoimmune polyendocrine syndrome type 4|Autoimmune polyglandular syndrome type 4 +GARD:0020568,Orphanet,ORPHA:228113,Disorder,Particular clinical situation in a disease or syndrome,Anal fistula, +GARD:0020569,Orphanet,ORPHA:228116,Disorder,Disease,Hughes-Stovin syndrome, +GARD:0020570,Orphanet,ORPHA:228119,Disorder,Disease,Fusariosis,Fusarium infection +GARD:0020571,Orphanet,ORPHA:228145,Group of disorders,Category,Multiple sclerosis variant, +GARD:0020572,Orphanet,ORPHA:228157,Disorder,Disease,Marburg acute multiple sclerosis,"Acute multiple sclerosis, Marburg type|Acute multiple sclerosis, Marburg variant" +GARD:0020573,Orphanet,ORPHA:228184,Group of disorders,Category,Heart-hand syndrome,Atriodigital dysplasia +GARD:0020574,Orphanet,ORPHA:228215,Group of disorders,Category,Genetic dermis elastic tissue disorder, +GARD:0020575,Orphanet,ORPHA:228218,Group of disorders,Category,Acquired dermis elastic tissue disorder, +GARD:0020576,Orphanet,ORPHA:228221,Group of disorders,Category,Acquired dermis elastic tissue disorder with decreased elastic tissue, +GARD:0020577,Orphanet,ORPHA:228224,Group of disorders,Category,Acquired dermis elastic tissue disorder with increased elastic tissue, +GARD:0020578,Orphanet,ORPHA:228227,Disorder,Disease,Late-onset focal dermal elastosis,PXE-like late-onset focal dermal elastosis|Pseudoxanthoma-like late-onset focal dermal elastosis +GARD:0020579,Orphanet,ORPHA:228236,Disorder,Disease,Linear focal elastosis,Elastotic striae|Linear focal dermal elastosis +GARD:0020580,Orphanet,ORPHA:228243,Disorder,Disease,Elastofibroma dorsi, +GARD:0020581,Orphanet,ORPHA:228247,Disorder,Disease,Acquired pseudoxanthoma elasticum,Acquired Gronblad-Strandberg-Touraine syndrome|Acquired PXE +GARD:0020582,Orphanet,ORPHA:228254,Disorder,Disease,Elastoma,Juvenile elastoma without osteopoikilosis|Nevus elasticus|Weidman juvenile elastoma +GARD:0020583,Orphanet,ORPHA:228264,Disorder,Disease,Papular elastorrhexis, +GARD:0020584,Orphanet,ORPHA:228272,Disorder,Disease,Primary anetoderma,Primary macular atrophy +GARD:0020585,Orphanet,ORPHA:228277,Disorder,Disease,Familial anetoderma,Hereditary anetoderma|Hereditary macular atrophy +GARD:0020586,Orphanet,ORPHA:228285,Disorder,Disease,Acquired cutis laxa,Cutis laxa acquisita +GARD:0020587,Orphanet,ORPHA:228290,Disorder,Disease,White fibrous papulosis of the neck, +GARD:0020588,Orphanet,ORPHA:228293,Disorder,Disease,Pseudoxanthoma elasticum-like papillary dermal elastolysis,PXE-like papillary dermal elastolysis +GARD:0020589,Orphanet,ORPHA:228299,Disorder,Disease,Mid-dermal elastolysis, +GARD:0020590,Orphanet,ORPHA:228312,Group of disorders,Clinical group,"Autoimmune hemolytic anemia, cold type",Cold AIHA|cAHA|cAIHA +GARD:0020591,Orphanet,ORPHA:228371,Subtype of disorder,Clinical subtype,Foodborne botulism,Intoxication botulism +GARD:0020592,Orphanet,ORPHA:228379,Disorder,Disease,Virus-associated trichodysplasia spinulosa,Cyclosporine-induced folliculodystrophy|Pilomatrix dysplasia|TS|Trichodysplasia spinulosa|VATS +GARD:0020593,Orphanet,ORPHA:228396,Disorder,Malformation syndrome,Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome, +GARD:0020594,Orphanet,ORPHA:228410,Disorder,Malformation syndrome,Polyvalvular heart disease syndrome,PHD syndrome +GARD:0020595,Orphanet,ORPHA:228415,Disorder,Malformation syndrome,5q35 microduplication syndrome,Dup(5)(q35)|Trisomy 5q35 +GARD:0020596,Orphanet,ORPHA:229720,Group of disorders,Category,Syndromic agammaglobulinemia, +GARD:0020597,Orphanet,ORPHA:230800,Subtype of disorder,Clinical subtype,Toxin-mediated infectious botulism,Toxin-mediated infective botulism +GARD:0020598,Orphanet,ORPHA:231080,Disorder,Particular clinical situation in a disease or syndrome,High-grade dysplasia in patients with Barrett esophagus, +GARD:0020599,Orphanet,ORPHA:231111,Disorder,Disease,Drug-induced lupus erythematosus,DILE +GARD:0020600,Orphanet,ORPHA:231117,Subtype of disorder,Etiological subtype,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, +GARD:0020601,Orphanet,ORPHA:231127,Subtype of disorder,Etiological subtype,Beckwith-Wiedemann syndrome due to 11p15 microdeletion, +GARD:0020602,Orphanet,ORPHA:231130,Subtype of disorder,Etiological subtype,Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion, +GARD:0020603,Orphanet,ORPHA:231137,Subtype of disorder,Etiological subtype,Silver-Russell syndrome due to 7p11.2p13 microduplication,Silver-Russell syndrome due to 7p11.2-p13 microduplication|Silver-Russell syndrome due to dup(7)(p11.2p13)|Silver-Russell syndrome due to trisomy 7p11.2-p13|Silver-Russell syndrome due to trisomy 7p11.2p13 +GARD:0020604,Orphanet,ORPHA:231140,Subtype of disorder,Etiological subtype,Silver-Russell syndrome due to an imprinting defect of 11p15, +GARD:0020605,Orphanet,ORPHA:231144,Subtype of disorder,Etiological subtype,Silver-Russell syndrome due to 11p15 microduplication, +GARD:0020606,Orphanet,ORPHA:231147,Subtype of disorder,Etiological subtype,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11,UPD(11)mat +GARD:0020607,Orphanet,ORPHA:231230,Group of disorders,Category,Beta-thalassemia associated with another hemoglobin anomaly,Beta-thalassemia associated with another Hb anomaly +GARD:0020608,Orphanet,ORPHA:231242,Disorder,Disease,Hemoglobin C-beta-thalassemia syndrome,C-beta-thalassemia|HbC-beta-thalassemia syndrome +GARD:0020609,Orphanet,ORPHA:231249,Disorder,Disease,Hemoglobin E-beta-thalassemia syndrome,E-beta-thalassemia|HbE-beta-thalassemia syndrome +GARD:0020610,Orphanet,ORPHA:231386,Group of disorders,Category,Beta-thalassemia with other manifestations, +GARD:0020611,Orphanet,ORPHA:231413,Group of disorders,Category,Variant of Guillain-Barré syndrome,Variant of GBS +GARD:0020612,Orphanet,ORPHA:231416,Group of disorders,Clinical group,Regional variant of Guillain-Barré syndrome,Regional variant of GBS +GARD:0020613,Orphanet,ORPHA:231419,Group of disorders,Clinical group,Functional variant of Guillain-Barré syndrome,Functional variant of GBS +GARD:0020614,Orphanet,ORPHA:231426,Disorder,Disease,Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome,PCB variant of GBS|PCB variant of Guillain-Barré syndrome|Pharyngeal-cervical-brachial weakness|Pharyngo-cervico-brachial variant of GBS|Pharyngo-cervico-brachial variant of Guillain-Barré syndrome +GARD:0020615,Orphanet,ORPHA:231445,Disorder,Disease,Paraparetic variant of Guillain-Barré syndrome,Paraparetic variant of GBS +GARD:0020616,Orphanet,ORPHA:231450,Disorder,Disease,Acute pure sensory neuropathy,Acute pure sensory GBS|Acute pure sensory Guillain-Barré syndrome +GARD:0020617,Orphanet,ORPHA:231457,Disorder,Disease,Acute pandysautonomia,Acute panautonomic GBS|Acute panautonomic Guillain-Barré syndrome|Acute panautonomic neuropathy +GARD:0020618,Orphanet,ORPHA:231466,Disorder,Disease,Acute sensory ataxic neuropathy,ASAN|Acute sensory ataxic GBS|Acute sensory ataxic Guillain-Barré syndrome +GARD:0020619,Orphanet,ORPHA:231573,Disorder,Disease,Congenital erosive and vesicular dermatosis,CEVD|Congenital erosive and vesicular dermatosis with reticulated supple scarring +GARD:0020620,Orphanet,ORPHA:231580,Disorder,Disease,Primary unilateral adrenal hyperplasia,PUAH +GARD:0020621,Orphanet,ORPHA:231625,Disorder,Disease,Adrenocortical carcinoma with pure aldosterone hypersecretion,Pure APAC|Pure aldosterone-producing adrenocortical carcinoma|Pure aldosterone-secreting adrenocortical carcinoma +GARD:0020622,Orphanet,ORPHA:231632,Disorder,Disease,Ectopic aldosterone-producing tumor,Extra-adrenal aldosterone-producing tumor +GARD:0020623,Orphanet,ORPHA:231637,Group of disorders,Category,Rare surgically correctable form of primary aldosteronism, +GARD:0020624,Orphanet,ORPHA:231641,Group of disorders,Category,Rare non surgically correctable form of primary aldosteronism, +GARD:0020625,Orphanet,ORPHA:231742,Disorder,Malformation syndrome,Epibulbar lipodermoid-preauricular appendage-polythelia syndrome, +GARD:0020626,Orphanet,ORPHA:232035,Group of disorders,Category,Infectious embryofetopathy, +GARD:0020627,Orphanet,ORPHA:232288,Group of disorders,Category,Syndrome with alpha-thalassemia as a major feature, +GARD:0020628,Orphanet,ORPHA:233655,Group of disorders,Category,Rare genetic vascular disease, +GARD:0020629,Orphanet,ORPHA:235832,Group of disorders,Clinical group,Congenital vascular bone syndrome, +GARD:0020630,Orphanet,ORPHA:235936,Group of disorders,Clinical group,Familial hyperaldosteronism,FH +GARD:0020631,Orphanet,ORPHA:238269,Subtype of disorder,Clinical subtype,AApoAII amyloidosis,Apolipoprotein A-II amyloidosis|Familial amyloid nephropathy due to apolipoprotein A-II variant|Familial renal amyloidosis due to apolipoprotein A-II variant|Hereditary amyloid nephropathy due to apolipoprotein A-II variant|Hereditary renal amyloidosis due to apolipoprotein A-II variant +GARD:0020632,Orphanet,ORPHA:238305,Disorder,Disease,Infundibulo-neurohypophysitis, +GARD:0020633,Orphanet,ORPHA:238510,Group of disorders,Clinical group,Lymphoproliferative syndrome, +GARD:0020634,Orphanet,ORPHA:238517,Group of disorders,Clinical group,Hypotonia-cystinuria type 1 syndrome, +GARD:0020635,Orphanet,ORPHA:238536,Group of disorders,Category,Congenital secondary polycythemia,Congenital secondary erythrocytosis +GARD:0020636,Orphanet,ORPHA:238547,Group of disorders,Category,Acquired secondary polycythemia,Acquired secondary erythrocytosis +GARD:0020637,Orphanet,ORPHA:238621,Disorder,Particular clinical situation in a disease or syndrome,Ileal pouch anal anastomosis related faecal incontinence, +GARD:0020638,Orphanet,ORPHA:238637,Disorder,Disease,Megacystis-megaureter syndrome,Megaureter-megacystis syndrome +GARD:0020639,Orphanet,ORPHA:238642,Subtype of disorder,Clinical subtype,"Primary megaureter, adult-onset form", +GARD:0020640,Orphanet,ORPHA:238646,Subtype of disorder,Clinical subtype,"Congenital primary megaureter, obstructed form", +GARD:0020641,Orphanet,ORPHA:238650,Subtype of disorder,Clinical subtype,"Congenital primary megaureter, refluxing form", +GARD:0020642,Orphanet,ORPHA:238654,Subtype of disorder,Clinical subtype,"Congenital primary megaureter, nonrefluxing and unobstructed form", +GARD:0020643,Orphanet,ORPHA:238666,Disorder,Disease,Isolated congenital hypogonadotropic hypogonadism,Gonadotropic deficiency|Isolated congenital gonadotropin deficiency|Isolated gonadotropin-releasing hormone deficiency +GARD:0020644,Orphanet,ORPHA:238688,Disorder,Disease,Neonatal iodine exposure, +GARD:0020645,Orphanet,ORPHA:238696,Group of disorders,Category,Transient congenital hypothyroidism due to maternal factor, +GARD:0020646,Orphanet,ORPHA:238699,Group of disorders,Category,Transient congenital hypothyroidism due to neonatal factor, +GARD:0020647,Orphanet,ORPHA:240094,Subtype of disorder,Clinical subtype,Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,PSP-PAGF|PSP-pure akinesia with gait freezing +GARD:0020648,Orphanet,ORPHA:240103,Subtype of disorder,Clinical subtype,Progressive supranuclear palsy-corticobasal syndrome,PSP-CBS|PSP-corticobasal syndrome +GARD:0020649,Orphanet,ORPHA:240112,Subtype of disorder,Clinical subtype,Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,PSP-AOS|PSP-PNFA|Progressive supranuclear palsy-apraxia of speech syndrome +GARD:0020650,Orphanet,ORPHA:240371,Group of disorders,Category,Syndromic obesity, +GARD:0020651,Orphanet,ORPHA:244275,Disorder,Particular clinical situation in a disease or syndrome,De novo thrombotic microangiopathy after kidney transplantation, +GARD:0020652,Orphanet,ORPHA:244283,Disorder,Malformation syndrome,Biliary atresia with splenic malformation syndrome,BASM syndrome +GARD:0020653,Orphanet,ORPHA:247165,Disorder,Disease,Infantile mercury poisoning,Erythroedema polyneuritis|Feer disease|Infantile acrodynia|Infantile mercury intoxication|Pink disease|Swift disease|Swift-Feer disease +GARD:0020654,Orphanet,ORPHA:247234,Disorder,Disease,Sporadic adult-onset ataxia of unknown etiology,Idiopathic late-onset cerebellar ataxia|SAOA +GARD:0020655,Orphanet,ORPHA:247239,Group of disorders,Category,Non-hereditary degenerative ataxia, +GARD:0020656,Orphanet,ORPHA:247242,Group of disorders,Category,Acquired ataxia, +GARD:0020657,Orphanet,ORPHA:247257,Disorder,Disease,Inhalational anthrax,Inhalation anthrax disease|Pulmonary anthrax|Respiratory anthrax|Respiratory anthrax disease +GARD:0020658,Orphanet,ORPHA:247378,Disorder,Disease,Autosomal recessive secondary polycythemia not associated with VHL gene,"Autosomal recessive secondary erythrocytosis not associated with VHL gene|Autosomal recessive secondary erythrocytosis, non-Chuvash type|Autosomal recessive secondary polycythemia, non-Chuvash type" +GARD:0020659,Orphanet,ORPHA:247546,Subtype of disorder,Clinical subtype,Acute neonatal citrullinemia type I,Acute neonatal citrullinemia type 1|Classic citrullinemia type 1|Classic citrullinemia type I +GARD:0020660,Orphanet,ORPHA:247573,Subtype of disorder,Clinical subtype,Adult-onset citrullinemia type I,Adult-onset citrullinemia type 1|Late-onset citrullinemia type 1|Late-onset citrullinemia type I +GARD:0020661,Orphanet,ORPHA:247582,Group of disorders,Category,Citrin deficiency, +GARD:0020662,Orphanet,ORPHA:247638,Subtype of disorder,Clinical subtype,Prenatal benign hypophosphatasia,Prenatal benign Rathbun disease|Prenatal benign phosphoethanolaminuria +GARD:0020663,Orphanet,ORPHA:247718,Disorder,Disease,Inflammatory myopathy with abundant macrophages,IMAM +GARD:0020664,Orphanet,ORPHA:247724,Disorder,Disease,Idiopathic eosinophilic myositis,Idiopathic eosinophilia-associated myopathy +GARD:0020665,Orphanet,ORPHA:247765,Group of disorders,Category,X-linked cerebellar ataxia, +GARD:0020666,Orphanet,ORPHA:247815,Disorder,Disease,Autosomal recessive ataxia due to PEX10 deficiency,Mild peroxisomal disorder due to PEX10 deficiency +GARD:0020667,Orphanet,ORPHA:248095,Group of disorders,Clinical group,Primary hypertrophic osteoarthropathy,Idiopathic hypertrophic osteoarthropathy|PHO +GARD:0020668,Orphanet,ORPHA:248293,Group of disorders,Category,Rare deficiency anemia, +GARD:0020669,Orphanet,ORPHA:248296,Group of disorders,Category,Constitutional deficiency anemia, +GARD:0020670,Orphanet,ORPHA:248302,Group of disorders,Category,Rare acquired deficiency anemia, +GARD:0020671,Orphanet,ORPHA:248308,Group of disorders,Category,Rare hemorrhagic disorder,Rare bleeding disorder +GARD:0020672,Orphanet,ORPHA:248315,Group of disorders,Category,Rare hemorrhagic disorder due to a coagulation factors defect,Rare bleeding disorder due to a coagulation factors defect|Rare coagulopathy due to a coagulation factor defect +GARD:0020673,Orphanet,ORPHA:248326,Group of disorders,Category,Rare hemorrhagic disorder due to a platelet anomaly,Rare bleeding disorder due to a platelet anomaly|Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia|Rare coagulopathy due to a platelet anomaly|Rare coagulopathy due to a thrombopathy and/or thrombocytopenia|Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia +GARD:0020674,Orphanet,ORPHA:248340,Disorder,Disease,Isolated delta-storage pool disease,Isolated delta-SPD|Isolated dense-SPD|Isolated dense-storage pool disease +GARD:0020675,Orphanet,ORPHA:248347,Group of disorders,Category,Rare hemorrhagic disorder due to an acquired platelet anomaly,Rare bleeding disorder due to an acquired platelet anomaly|Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia|Rare coagulopathy due to an acquired platelet anomaly|Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia|Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia +GARD:0020676,Orphanet,ORPHA:248358,Group of disorders,Category,Rare thrombotic disorder due to a coagulation factors defect, +GARD:0020677,Orphanet,ORPHA:248361,Group of disorders,Category,Rare thrombotic disorder due to a constitutional coagulation factors defect, +GARD:0020678,Orphanet,ORPHA:248365,Group of disorders,Category,Rare thrombotic disorder due to an acquired coagulation factors defect, +GARD:0020679,Orphanet,ORPHA:248368,Group of disorders,Category,Rare thrombotic disorder due to a platelet anomaly, +GARD:0020680,Orphanet,ORPHA:248401,Group of disorders,Category,Rare thrombotic disorder due to a constitutional platelet anomaly, +GARD:0020681,Orphanet,ORPHA:248404,Group of disorders,Category,Rare thrombotic disorder due to an acquired platelet anomaly, +GARD:0020682,Orphanet,ORPHA:250165,Group of disorders,Category,Genetic polycythemia, +GARD:0020683,Orphanet,ORPHA:250805,Group of disorders,Category,Serpinopathy, +GARD:0020684,Orphanet,ORPHA:250808,Group of disorders,Category,Serpinopathy with toxic serpin polymerization, +GARD:0020685,Orphanet,ORPHA:250811,Group of disorders,Category,Serpinopathy with loss of serpin function, +GARD:0020686,Orphanet,ORPHA:250932,Disorder,Disease,Autosomal dominant optic atrophy and peripheral neuropathy, +GARD:0020687,Orphanet,ORPHA:250972,Disorder,Malformation syndrome,Polymicrogyria with optic nerve hypoplasia, +GARD:0020688,Orphanet,ORPHA:251004,Disorder,Malformation syndrome,Paternal uniparental disomy of chromosome 1,UPD(1)pat +GARD:0020689,Orphanet,ORPHA:251009,Disorder,Malformation syndrome,Maternal uniparental disomy of chromosome 1,UPD(1)mat +GARD:0020690,Orphanet,ORPHA:251014,Disorder,Malformation syndrome,2q31.1 microdeletion syndrome,Del(2)(q31.1)|Monosomy 2q31.1 +GARD:0020691,Orphanet,ORPHA:251046,Disorder,Malformation syndrome,6p22 microdeletion syndrome,Del(6)(p22)|Monosomy 6p22 +GARD:0020692,Orphanet,ORPHA:251061,Disorder,Malformation syndrome,7q31 microdeletion syndrome,Del(7)(q31)|Monosomy 7q31 +GARD:0020693,Orphanet,ORPHA:251066,Disorder,Malformation syndrome,8p11.2 deletion syndrome,Del(8)(p11.2)|Monosomy 8p11.2 +GARD:0020694,Orphanet,ORPHA:251304,Disorder,Disease,Infantile onset panniculitis with uveitis and systemic granulomatosis, +GARD:0020695,Orphanet,ORPHA:251307,Disorder,Disease,Idiopathic recurrent pericarditis,Idiopathic relapsing pericarditis +GARD:0020696,Orphanet,ORPHA:251312,Group of disorders,Clinical group,Overlapping connective tissue disease, +GARD:0020697,Orphanet,ORPHA:251325,Disorder,Disease,Drug-induced vasculitis, +GARD:0020698,Orphanet,ORPHA:251328,Disorder,Disease,Unclassified vasculitis, +GARD:0020699,Orphanet,ORPHA:251332,Disorder,Disease,Unexplained long-lasting fever/inflammatory syndrome,Persistent fever/inflammation of unknown origin +GARD:0020700,Orphanet,ORPHA:251375,Disorder,Disease,Sickle cell-hemoglobin E disease syndrome,HbSE disease +GARD:0020701,Orphanet,ORPHA:251529,Group of disorders,Category,Toxic or drug-related embryofetopathy, +GARD:0020702,Orphanet,ORPHA:251535,Group of disorders,Category,Maternal disease-related embryofetopathy, +GARD:0020703,Orphanet,ORPHA:251558,Group of disorders,Category,Rare tumor of neuroepithelial tissue, +GARD:0020704,Orphanet,ORPHA:251561,Group of disorders,Clinical group,High-grade astrocytoma, +GARD:0020705,Orphanet,ORPHA:251579,Subtype of disorder,Histopathological subtype,Giant cell glioblastoma, +GARD:0020706,Orphanet,ORPHA:251592,Group of disorders,Clinical group,Low-grade astrocytoma, +GARD:0020707,Orphanet,ORPHA:251598,Subtype of disorder,Histopathological subtype,Protoplasmic astrocytoma, +GARD:0020708,Orphanet,ORPHA:251601,Subtype of disorder,Histopathological subtype,Fibrillary astrocytoma, +GARD:0020709,Orphanet,ORPHA:251604,Subtype of disorder,Histopathological subtype,Gemistocytic astrocytoma, +GARD:0020710,Orphanet,ORPHA:251615,Subtype of disorder,Histopathological subtype,Pilomyxoid astrocytoma, +GARD:0020711,Orphanet,ORPHA:251623,Disorder,Disease,Pituicytoma, +GARD:0020712,Orphanet,ORPHA:251651,Group of disorders,Clinical group,Oligoastrocytic tumor,Mixed oligodendroglial and astrocytic tumor +GARD:0020713,Orphanet,ORPHA:251668,Group of disorders,Clinical group,Glial tumor of neuroepithelial tissue with unknown origin, +GARD:0020714,Orphanet,ORPHA:251671,Disorder,Disease,Angiocentric glioma, +GARD:0020715,Orphanet,ORPHA:251674,Disorder,Disease,Chordoid glioma, +GARD:0020716,Orphanet,ORPHA:251852,Group of disorders,Category,Embryonal tumor of neuroepithelial tissue, +GARD:0020717,Orphanet,ORPHA:251855,Subtype of disorder,Histopathological subtype,Anaplastic/large cell medulloblastoma, +GARD:0020718,Orphanet,ORPHA:251870,Group of disorders,Clinical group,Central nervous system embryonal tumor,CNS PNET|Central nervous system primitive neuroectodermal tumor +GARD:0020719,Orphanet,ORPHA:251877,Disorder,Disease,Ganglioneuroblastoma, +GARD:0020720,Orphanet,ORPHA:251880,Disorder,Disease,Ependymoblastoma, +GARD:0020721,Orphanet,ORPHA:251883,Disorder,Disease,Medulloepithelioma of the central nervous system, +GARD:0020722,Orphanet,ORPHA:251896,Group of disorders,Clinical group,Choroid plexus tumor, +GARD:0020723,Orphanet,ORPHA:251902,Disorder,Disease,Atypical papilloma of choroid plexus,Atypical CPP|Atypical choroid plexus papilloma +GARD:0020724,Orphanet,ORPHA:251905,Group of disorders,Clinical group,Pineal tumor of neuroepithelial tissue, +GARD:0020725,Orphanet,ORPHA:251915,Disorder,Disease,Papillary tumor of the pineal region,PTPR +GARD:0020726,Orphanet,ORPHA:251924,Group of disorders,Clinical group,Neuronal tumor, +GARD:0020727,Orphanet,ORPHA:251927,Disorder,Disease,Extraventricular neurocytoma,EVN +GARD:0020728,Orphanet,ORPHA:251934,Group of disorders,Clinical group,Mixed neuronal-glial tumor, +GARD:0020729,Orphanet,ORPHA:251940,Disorder,Disease,Desmoplastic infantile astrocytoma/ganglioglioma,DIA/DIG +GARD:0020730,Orphanet,ORPHA:251962,Disorder,Disease,Papillary glioneuronal tumor,PGNT|Pseudopapillary ganglioglioneurocytoma|Pseudopapillary neurocytoma with glial differentiation +GARD:0020731,Orphanet,ORPHA:251992,Disorder,Disease,Ganglioneuroma, +GARD:0020732,Orphanet,ORPHA:251995,Group of disorders,Category,Primary germ cell tumor of central nervous system,Primary germ cell tumor of CNS +GARD:0020733,Orphanet,ORPHA:252006,Subtype of disorder,Clinical subtype,Yolk sac tumor of central nervous system,Endodermal sinus tumor of CNS|Endodermal sinus tumor of central nervous system|Intracranial endodermal sinus tumor|Intracranial yolk sac tumor|Yolk sac tumor of CNS +GARD:0020734,Orphanet,ORPHA:252015,Disorder,Disease,Choriocarcinoma of the central nervous system, +GARD:0020735,Orphanet,ORPHA:252018,Subtype of disorder,Clinical subtype,Teratoma of the central nervous system, +GARD:0020736,Orphanet,ORPHA:252021,Subtype of disorder,Clinical subtype,Mixed germ cell tumor of central nervous system,Mixed germ cell tumor of CNS +GARD:0020737,Orphanet,ORPHA:252025,Group of disorders,Category,Tumor of meninges, +GARD:0020738,Orphanet,ORPHA:252028,Group of disorders,Category,Primary melanocytic tumor of central nervous system,Primary melanocytic lesion of CNS|Primary melanocytic lesion of central nervous system|Primary melanocytic tumor of CNS +GARD:0020739,Orphanet,ORPHA:252031,Disorder,Disease,Diffuse leptomeningeal melanocytosis,DLM|Leptomeningeal melanomatosis +GARD:0020740,Orphanet,ORPHA:252046,Disorder,Disease,Meningeal melanocytoma, +GARD:0020741,Orphanet,ORPHA:252128,Subtype of disorder,Histopathological subtype,Malignant peripheral nerve sheath tumor with perineurial differentiation,Malignant perineurioma +GARD:0020742,Orphanet,ORPHA:252190,Group of disorders,Category,Inherited nervous system cancer-predisposing syndrome, +GARD:0020743,Orphanet,ORPHA:252212,Subtype of disorder,Histopathological subtype,Malignant triton tumor,MPNST with rhabdomyosarcomatous differentiation|MTT|Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation +GARD:0020744,Orphanet,ORPHA:254370,Group of disorders,Category,Rare cutaneous lichen planus,Rare cutaneous LP +GARD:0020745,Orphanet,ORPHA:254373,Group of disorders,Category,Rare mucosal lichen planus,Rare mucosal LP +GARD:0020746,Orphanet,ORPHA:254504,Subtype of disorder,Clinical subtype,Inhalational botulism,Inhalation botulism +GARD:0020747,Orphanet,ORPHA:254509,Subtype of disorder,Clinical subtype,Iatrogenic botulism,Inadvertent botulism +GARD:0020748,Orphanet,ORPHA:254685,Group of disorders,Category,Gestational trophoblastic disease, +GARD:0020749,Orphanet,ORPHA:254693,Subtype of disorder,Clinical subtype,Partial hydatidiform mole,Incomplete hydatidiform mole|Incomplete molar pregnancy|Partial molar pregnancy +GARD:0020750,Orphanet,ORPHA:254698,Disorder,Disease,Epithelioid trophoblastic tumor, +GARD:0020751,Orphanet,ORPHA:254704,Disorder,Biological anomaly,Genetic hyperferritinemia without iron overload,Benign hyperferritinemia +GARD:0020752,Orphanet,ORPHA:254746,Group of disorders,Category,Pyruvate metabolism disorder, +GARD:0020753,Orphanet,ORPHA:254749,Group of disorders,Category,Tricarboxylic acid cycle disorder,Citric acid cycle disorder|Krebs cycle disorder|TCA cycle disorder +GARD:0020754,Orphanet,ORPHA:254758,Group of disorders,Category,Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies,Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies|OXPHOS disease due to mitochondrial DNA anomalies|OXPHOS disease due to mtDNA anomalies +GARD:0020755,Orphanet,ORPHA:254767,Group of disorders,Category,Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA,Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA|OXPHOS disease due to a large-scale single deletion of mitochondrial DNA|OXPHOS disease due to a large-scale single deletion of mtDNA +GARD:0020756,Orphanet,ORPHA:254776,Group of disorders,Category,Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA,Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA|OXPHOS disease due to a point mutation of mitochondrial DNA|OXPHOS disease due to a point mutation of mtDNA +GARD:0020757,Orphanet,ORPHA:254788,Group of disorders,Clinical group,Mitochondrial DNA-related mitochondrial myopathy,Maternally-inherited mitochondrial myopathy|mtDNA-related mitochondrial myopathy +GARD:0020758,Orphanet,ORPHA:254807,Group of disorders,Category,Multiple mitochondrial DNA deletion syndrome,Multiple mtDNA deletion syndrome +GARD:0020759,Orphanet,ORPHA:254818,Group of disorders,Clinical group,Ataxia neuropathy spectrum, +GARD:0020760,Orphanet,ORPHA:254822,Group of disorders,Category,Mitochondrial oxidative phosphorylation disorder with no known mechanism,OXPHOS disease with no known mechanism +GARD:0020761,Orphanet,ORPHA:254827,Group of disorders,Category,Mitochondrial membrane transport disorder, +GARD:0020762,Orphanet,ORPHA:254830,Group of disorders,Category,Mitochondrial substrate carrier disorder, +GARD:0020763,Orphanet,ORPHA:254834,Group of disorders,Category,Mitochondrial protein import disorder, +GARD:0020764,Orphanet,ORPHA:254837,Group of disorders,Clinical group,Unspecified mitochondrial disorder, +GARD:0020765,Orphanet,ORPHA:254843,Group of disorders,Clinical group,Exercise intolerance with lactic acidosis, +GARD:0020766,Orphanet,ORPHA:254846,Group of disorders,Category,Isolated oxidative phosphorylation complex disorder,Isolated respiratory chain complex disorder +GARD:0020767,Orphanet,ORPHA:254851,Disorder,Disease,Mitochondrial DNA-related dystonia,Maternally-inherited mitochondrial dystonia|mtDNA-related dystonia +GARD:0020768,Orphanet,ORPHA:254854,Disorder,Disease,Pure mitochondrial myopathy, +GARD:0020769,Orphanet,ORPHA:254871,Group of disorders,Clinical group,"Mitochondrial DNA depletion syndrome, hepatocerebral form","Deoxyguanosine kinase deficiency|mtDNA depletion syndrome, hepatocerebral form" +GARD:0020770,Orphanet,ORPHA:261102,Disorder,Malformation syndrome,Distal 7q11.23 microduplication syndrome,Distal dup(7)(q11.23)|Distal trisomy 7q11.23|Dup7q11.23D +GARD:0020771,Orphanet,ORPHA:261144,Subtype of disorder,Clinical subtype,FOXG1 syndrome due to 14q12 microdeletion,Del(14)(q12)|Monosomy 14q12 +GARD:0020772,Orphanet,ORPHA:261204,Disorder,Malformation syndrome,16p11.2p12.2 microduplication syndrome,Dup(16)(p11.2p12.2)|Trisomy 16p11.2p12.2 +GARD:0020773,Orphanet,ORPHA:261229,Disorder,Malformation syndrome,14q11.2 microduplication syndrome,Dup(14)(q11.2)|Trisomy 14q11.2 +GARD:0020774,Orphanet,ORPHA:261236,Disorder,Malformation syndrome,16p13.11 microdeletion syndrome,Del(16)(p13.11)|Monosomy 16p13.11 +GARD:0020775,Orphanet,ORPHA:261243,Disorder,Malformation syndrome,16p13.11 microduplication syndrome,Dup(16)(p13.11)|Trisomy 16p13.11 +GARD:0020776,Orphanet,ORPHA:261257,Disorder,Malformation syndrome,Distal 17p13.3 microdeletion syndrome,Distal del(17)(p13.3 )|Distal monosomy 17p13.3 +GARD:0020777,Orphanet,ORPHA:261304,Disorder,Malformation syndrome,Paternal 20q13.2q13.3 microdeletion syndrome,Paternal del(20)(q13.2q13.3)|Paternal monosomy 20q13.2q13.3 +GARD:0020778,Orphanet,ORPHA:261311,Disorder,Malformation syndrome,20q13.33 microdeletion syndrome,Del(20)(q13.33)|Monosomy 20q13.33 +GARD:0020779,Orphanet,ORPHA:261323,Disorder,Malformation syndrome,21q22.11q22.12 microdeletion syndrome,Del(21)(q22.11q22.12)|Monosomy 21q22.11q22.12 +GARD:0020780,Orphanet,ORPHA:261337,Disorder,Malformation syndrome,Distal 22q11.2 microduplication syndrome,Distal dup(22)(q11.2)|Distal trisomy 22q11.2 +GARD:0020781,Orphanet,ORPHA:261344,Disorder,Malformation syndrome,Trisomy 1q,Duplication 1q +GARD:0020782,Orphanet,ORPHA:261501,Disorder,Malformation syndrome,Atypical Norrie disease due to Xp11.3 microdeletion,Atypical Norrie disease due to del(X)(p11.3)|Atypical Norrie disease due to nullisomy Xp11.3 +GARD:0020783,Orphanet,ORPHA:261519,Disorder,Malformation syndrome,Maternal uniparental disomy of chromosome X,UPD(X)mat +GARD:0020784,Orphanet,ORPHA:261524,Disorder,Malformation syndrome,Paternal uniparental disomy of chromosome X,UPD(X)pat +GARD:0020785,Orphanet,ORPHA:261529,Disorder,Malformation syndrome,Ring chromosome Y syndrome,Ring chromosome Y|r(Y) +GARD:0020786,Orphanet,ORPHA:261584,Subtype of disorder,Etiological subtype,Familial adenomatous polyposis due to 5q22.2 microdeletion,Colorectal adenomatous polyposis due to monosomy 5q22.2|FAP due to monosomy 5q22.2|Familial adenomatous polyposis due to del(5)(q22.2)|Familial adenomatous polyposis due to monosomy 5q22.2|Familial polyposis coli due to monosomy 5q22.2 +GARD:0020787,Orphanet,ORPHA:261638,Subtype of disorder,Etiological subtype,Okihiro syndrome due to 20q13 microdeletion,Duane-radial ray syndrome due to monosomy 20q13|Okihiro syndrome due to del(20)(q13)|Okihiro syndrome due to monosomy 20q13 +GARD:0020788,Orphanet,ORPHA:261647,Subtype of disorder,Etiological subtype,Okihiro syndrome due to a point mutation,Duane-radial ray syndrome due to a point mutation +GARD:0020789,Orphanet,ORPHA:261766,Group of disorders,Category,Partial deletion of chromosome 1,Partial monosomy of chromosome 1 +GARD:0020790,Orphanet,ORPHA:261771,Group of disorders,Category,Partial deletion of chromosome 2,Partial monosomy of chromosome 2 +GARD:0020791,Orphanet,ORPHA:261776,Group of disorders,Category,Partial deletion of chromosome 3,Partial monosomy of chromosome 3 +GARD:0020792,Orphanet,ORPHA:261781,Group of disorders,Category,Partial deletion of chromosome 4,Partial monosomy of chromosome 4 +GARD:0020793,Orphanet,ORPHA:261786,Group of disorders,Category,Partial deletion of chromosome 5,Partial monosomy of chromosome 5 +GARD:0020794,Orphanet,ORPHA:261791,Group of disorders,Category,Partial deletion of chromosome 6,Partial monosomy of chromosome 6 +GARD:0020795,Orphanet,ORPHA:261796,Group of disorders,Category,Partial deletion of chromosome 7,Partial monosomy of chromosome 7 +GARD:0020796,Orphanet,ORPHA:261801,Group of disorders,Category,Partial deletion of chromosome 8,Partial monosomy of chromosome 8 +GARD:0020797,Orphanet,ORPHA:261806,Group of disorders,Category,Partial deletion of chromosome 9,Partial monosomy of chromosome 9 +GARD:0020798,Orphanet,ORPHA:261811,Group of disorders,Category,Partial deletion of chromosome 10,Partial monosomy of chromosome 10 +GARD:0020799,Orphanet,ORPHA:261816,Group of disorders,Category,Partial deletion of chromosome 11,Partial monosomy of chromosome 11 +GARD:0020800,Orphanet,ORPHA:261821,Group of disorders,Category,Partial deletion of the long arm of chromosome 12,Partial deletion of chromosome 12q|Partial monosomy of chromosome 12q|Partial monosomy of the long arm of chromosome 12 +GARD:0020801,Orphanet,ORPHA:261826,Group of disorders,Category,Partial deletion of chromosome 16,Partial monosomy of chromosome 16 +GARD:0020802,Orphanet,ORPHA:261831,Group of disorders,Category,Partial deletion of chromosome 17,Partial monosomy of chromosome 17 +GARD:0020803,Orphanet,ORPHA:261836,Group of disorders,Category,Partial deletion of chromosome 18,Partial monosomy of chromosome 18 +GARD:0020804,Orphanet,ORPHA:261841,Group of disorders,Category,Partial deletion of chromosome 19,Partial monosomy of chromosome 19 +GARD:0020805,Orphanet,ORPHA:261846,Group of disorders,Category,Partial deletion of chromosome 20,Partial monosomy of chromosome 20 +GARD:0020806,Orphanet,ORPHA:261857,Group of disorders,Category,Partial deletion of the short arm of chromosome 1,Partial deletion of chromosome 1p|Partial monosomy of chromosome 1p|Partial monosomy of the short arm of chromosome 1 +GARD:0020807,Orphanet,ORPHA:261866,Group of disorders,Category,Partial deletion of the short arm of chromosome 2,Partial deletion of chromosome 2p|Partial monosomy of chromosome 2p|Partial monosomy of the short arm of chromosome 2 +GARD:0020808,Orphanet,ORPHA:261884,Group of disorders,Category,Partial deletion of the short arm of chromosome 4,Partial deletion of chromosome 4p|Partial monosomy of chromosome 4p|Partial monosomy of the short arm of chromosome 4 +GARD:0020809,Orphanet,ORPHA:261893,Group of disorders,Category,Partial deletion of the short arm of chromosome 5,Partial deletion of chromosome 5p|Partial monosomy of chromosome 5p|Partial monosomy of the short arm of chromosome 5 +GARD:0020810,Orphanet,ORPHA:261902,Group of disorders,Category,Partial deletion of the short arm of chromosome 6,Partial deletion of chromosome 6p|Partial monosomy of chromosome 6p|Partial monosomy of the short arm of chromosome 6 +GARD:0020811,Orphanet,ORPHA:261911,Group of disorders,Category,Partial deletion of the short arm of chromosome 7,Partial deletion of chromosome 7p|Partial monosomy of chromosome 7p|Partial monosomy of the short arm of chromosome 7 +GARD:0020812,Orphanet,ORPHA:261920,Group of disorders,Category,Partial deletion of the short arm of chromosome 8,Partial deletion of chromosome 8p|Partial monosomy of chromosome 8p|Partial monosomy of the short arm of chromosome 8 +GARD:0020813,Orphanet,ORPHA:261929,Group of disorders,Category,Partial deletion of the short arm of chromosome 9,Partial deletion of chromosome 9p|Partial monosomy of chromosome 9p|Partial monosomy of the short arm of chromosome 9 +GARD:0020814,Orphanet,ORPHA:261938,Group of disorders,Category,Partial deletion of the short arm of chromosome 10,Partial deletion of chromosome 10p|Partial monosomy of chromosome 10p|Partial monosomy of the short arm of chromosome 10 +GARD:0020815,Orphanet,ORPHA:261947,Group of disorders,Category,Partial deletion of the short arm of chromosome 11,Partial deletion of chromosome 11p|Partial monosomy of chromosome 11p|Partial monosomy of the short arm of chromosome 11 +GARD:0020816,Orphanet,ORPHA:261956,Group of disorders,Category,Partial deletion of the short arm of chromosome 16,Partial deletion of chromosome 16p|Partial monosomy of chromosome 16p|Partial monosomy of the short arm of chromosome 16 +GARD:0020817,Orphanet,ORPHA:261965,Group of disorders,Category,Partial monosomy of the short arm of chromosome 17,Partial deletion of chromosome 17p|Partial deletion of the short arm of chromosome 17|Partial monosomy of chromosome 17p +GARD:0020818,Orphanet,ORPHA:261974,Group of disorders,Category,Partial deletion of the short arm of chromosome 18,Partial deletion of chromosome 18p|Partial monosomy of chromosome 18p|Partial monosomy of the short arm of chromosome 18 +GARD:0020819,Orphanet,ORPHA:261983,Group of disorders,Category,Partial deletion of the short arm of chromosome 19,Partial deletion of chromosome 19p|Partial monosomy of chromosome 19p|Partial monosomy of the short arm of chromosome 19 +GARD:0020820,Orphanet,ORPHA:261992,Group of disorders,Category,Partial monosomy of the short arm of chromosome 20,Partial deletion of chromosome 20p|Partial deletion of the short arm of chromosome 20|Partial monosomy of chromosome 20p|Pure partial 20p deletion +GARD:0020821,Orphanet,ORPHA:262001,Group of disorders,Category,Partial deletion of the long arm of chromosome 1,Partial deletion of chromosome 1q|Partial monosomy of chromosome 1q|Partial monosomy of the long arm of chromosome 1 +GARD:0020822,Orphanet,ORPHA:262010,Group of disorders,Category,Partial deletion of the long arm of chromosome 2,Partial deletion of chromosome 2q|Partial monosomy of chromosome 2q|Partial monosomy of the long arm of chromosome 2 +GARD:0020823,Orphanet,ORPHA:262019,Group of disorders,Category,Partial deletion of the long arm of chromosome 3,Partial deletion of chromosome 3q|Partial monosomy of chromosome 3q|Partial monosomy of the long arm of chromosome 3 +GARD:0020824,Orphanet,ORPHA:262029,Group of disorders,Category,Partial deletion of the long arm of chromosome 4,Partial deletion of chromosome 4q|Partial monosomy of chromosome 4q|Partial monosomy of the long arm of chromosome 4 +GARD:0020825,Orphanet,ORPHA:262038,Group of disorders,Category,Partial deletion of the long arm of chromosome 5,Partial deletion of chromosome 5q|Partial monosomy of chromosome 5q|Partial monosomy of the long arm of chromosome 5 +GARD:0020826,Orphanet,ORPHA:262047,Group of disorders,Category,Partial deletion of the long arm of chromosome 6,Partial deletion of chromosome 6q|Partial monosomy of chromosome 6q|Partial monosomy of the long arm of chromosome 6 +GARD:0020827,Orphanet,ORPHA:262056,Group of disorders,Category,Partial deletion of the long arm of chromosome 7,Partial deletion of chromosome 7q|Partial monosomy of chromosome 7q|Partial monosomy of the long arm of chromosome 7 +GARD:0020828,Orphanet,ORPHA:262065,Group of disorders,Category,Partial deletion of the long arm of chromosome 8,Partial deletion of chromosome 8q|Partial monosomy of chromosome 8q|Partial monosomy of the long arm of chromosome 8 +GARD:0020829,Orphanet,ORPHA:262074,Group of disorders,Category,Partial monosomy of the long arm of chromosome 9,Partial deletion of chromosome 9q|Partial deletion of the long arm of chromosome 9|Partial monosomy of chromosome 9q +GARD:0020830,Orphanet,ORPHA:262083,Group of disorders,Category,Partial monosomy of the long arm of chromosome 10,Partial deletion of chromosome 10q|Partial deletion of the long arm of chromosome 10|Partial monosomy of chromosome 10q +GARD:0020831,Orphanet,ORPHA:262092,Group of disorders,Category,Partial deletion of the long arm of chromosome 11,Partial deletion of chromosome 11q|Partial monosomy of chromosome 11q|Partial monosomy of the long arm of chromosome 11 +GARD:0020832,Orphanet,ORPHA:262101,Group of disorders,Category,Partial deletion of the long arm of chromosome 13,Partial deletion of chromosome 13q|Partial monosomy of chromosome 13q|Partial monosomy of the long arm of chromosome 13 +GARD:0020833,Orphanet,ORPHA:262110,Group of disorders,Category,Partial deletion of the long arm of chromosome 14,Partial deletion of chromosome 14q|Partial monosomy of chromosome 14q|Partial monosomy of the long arm of chromosome 14 +GARD:0020834,Orphanet,ORPHA:262119,Group of disorders,Category,Partial deletion of the long arm of chromosome 15,Partial deletion of chromosome 15q|Partial monosomy of chromosome 15q|Partial monosomy of the long arm of chromosome 15 +GARD:0020835,Orphanet,ORPHA:262128,Group of disorders,Category,Partial deletion of the long arm of chromosome 16,Partial deletion of chromosome 16q|Partial monosomy of chromosome 16q|Partial monosomy of the long arm of chromosome 16 +GARD:0020836,Orphanet,ORPHA:262137,Group of disorders,Category,Partial deletion of the long arm of chromosome 17,Partial deletion of chromosome 17q|Partial monosomy of chromosome 17q|Partial monosomy of the long arm of chromosome 17 +GARD:0020837,Orphanet,ORPHA:262146,Group of disorders,Category,Partial deletion of the long arm of chromosome 18,Partial deletion of chromosome 18q|Partial monosomy of chromosome 18q|Partial monosomy of the long arm of chromosome 18 +GARD:0020838,Orphanet,ORPHA:262155,Group of disorders,Category,Partial deletion of the long arm of chromosome 19,Partial deletion of chromosome 19q|Partial monosomy of chromosome 19q|Partial monosomy of the long arm of chromosome 19 +GARD:0020839,Orphanet,ORPHA:262164,Group of disorders,Category,Partial deletion of the long arm of chromosome 20,Partial deletion of chromosome 20q|Partial monosomy of chromosome 20q|Partial monosomy of the long arm of chromosome 20 +GARD:0020840,Orphanet,ORPHA:262173,Group of disorders,Category,Partial deletion of the long arm of chromosome 21,Partial deletion of chromosome 21q|Partial monosomy of chromosome 21q|Partial monosomy of the long arm of chromosome 21 +GARD:0020841,Orphanet,ORPHA:262182,Group of disorders,Category,Partial deletion of the long arm of chromosome 22,Partial deletion of chromosome 22q|Partial monosomy of chromosome 22q|Partial monosomy of the long arm of chromosome 22 +GARD:0020842,Orphanet,ORPHA:262191,Group of disorders,Category,Partial duplication of chromosome 1,Partial trisomy of chromosome 1 +GARD:0020843,Orphanet,ORPHA:262196,Group of disorders,Category,Partial duplication of chromosome 2,Partial trisomy of chromosome 2 +GARD:0020844,Orphanet,ORPHA:262201,Group of disorders,Category,Partial duplication of chromosome 3,Partial trisomy of chromosome 3 +GARD:0020845,Orphanet,ORPHA:262206,Group of disorders,Category,Partial duplication of chromosome 4,Partial trisomy of chromosome 4 +GARD:0020846,Orphanet,ORPHA:262211,Group of disorders,Category,Partial trisomy/tetrasomy of chromosome 5,Partial duplication/triplication of chromosome 5 +GARD:0020847,Orphanet,ORPHA:262628,Group of disorders,Category,Partial duplication of chromosome 6,Partial trisomy of chromosome 6 +GARD:0020848,Orphanet,ORPHA:262633,Group of disorders,Category,Partial duplication of chromosome 7,Partial trisomy of chromosome 7 +GARD:0020849,Orphanet,ORPHA:262638,Group of disorders,Category,Partial duplication of chromosome 8,Partial trisomy of chromosome 8 +GARD:0020850,Orphanet,ORPHA:262643,Group of disorders,Category,Partial trisomy/tetrasomy of chromosome 9,Partial duplication/triplication of chromosome 9 +GARD:0020851,Orphanet,ORPHA:262648,Group of disorders,Category,Partial duplication of chromosome 10,Partial trisomy of chromosome 10 +GARD:0020852,Orphanet,ORPHA:262653,Group of disorders,Category,Partial duplication of chromosome 11,Partial trisomy of chromosome 11 +GARD:0020853,Orphanet,ORPHA:262658,Group of disorders,Category,Partial trisomy/tetrasomy of the short arm of chromosome 12,Partial duplication/triplication of chromosome 12p|Partial duplication/triplication of the short arm of chromosome 12|Partial trisomy/tetrasomy of chromosome 12p +GARD:0020854,Orphanet,ORPHA:262672,Group of disorders,Category,Partial duplication of chromosome 16,Partial trisomy of chromosome 16 +GARD:0020855,Orphanet,ORPHA:262677,Group of disorders,Category,Partial duplication of chromosome 17,Partial trisomy of chromosome 17 +GARD:0020856,Orphanet,ORPHA:262682,Group of disorders,Category,Partial trisomy/tetrasomy of chromosome 18,Partial duplication/triplication of chromosome 18 +GARD:0020857,Orphanet,ORPHA:262687,Group of disorders,Category,Partial duplication of chromosome 19,Partial trisomy of chromosome 19 +GARD:0020858,Orphanet,ORPHA:262692,Group of disorders,Category,Partial trisomy of chromosome 20,Partial duplication of chromosome 20 +GARD:0020859,Orphanet,ORPHA:262698,Group of disorders,Category,Partial duplication of the short arm of chromosome 2,Partial duplication of chromosome 2p|Partial trisomy of chromosome 2p +GARD:0020860,Orphanet,ORPHA:262707,Group of disorders,Category,Partial duplication of the short arm of chromosome 3,Partial duplication of chromosome 3p|Partial trisomy of chromosome 3p|Partial trisomy of the short arm of chromosome 3 +GARD:0020861,Orphanet,ORPHA:262716,Group of disorders,Category,Partial duplication of the short arm of chromosome 4,Partial duplication of chromosome 4p|Partial trisomy of chromosome 4p|Partial trisomy of the short arm of chromosome 4 +GARD:0020862,Orphanet,ORPHA:262725,Group of disorders,Category,Partial trisomy/tetrasomy of the short arm of chromosome 5,Partial duplication/triplication of chromosome 5p|Partial duplication/triplication of the short arm of chromosome 5|Partial trisomy/tetrasomy of chromosome 5p +GARD:0020863,Orphanet,ORPHA:262740,Group of disorders,Category,Partial duplication of the short arm of chromosome 6,Partial duplication of chromosome 6p|Partial trisomy of chromosome 6p|Partial trisomy of the short arm of chromosome 6 +GARD:0020864,Orphanet,ORPHA:262749,Group of disorders,Category,Partial duplication of the short arm of chromosome 7,Partial duplication of chromosome 7p|Partial trisomy of chromosome 7p|Partial trisomy of the short arm of chromosome 7 +GARD:0020865,Orphanet,ORPHA:262758,Group of disorders,Category,Partial duplication of the short arm of chromosome 8,Partial duplication of chromosome 8p|Partial trisomy of chromosome 8p|Partial trisomy of the short arm of chromosome 8 +GARD:0020866,Orphanet,ORPHA:262767,Group of disorders,Category,Partial trisomy/tetrasomy of the short arm of chromosome 9,Partial duplication of chromosome 9p|Partial duplication of the short arm of chromosome 9|Partial trisomy of chromosome 9p +GARD:0020867,Orphanet,ORPHA:262776,Group of disorders,Category,Partial duplication of the short arm of chromosome 10,Partial duplication of chromosome 10p|Partial trisomy of chromosome 10p|Partial trisomy of the short arm of chromosome 10 +GARD:0020868,Orphanet,ORPHA:262785,Group of disorders,Category,Partial duplication of the short arm of chromosome 11,Partial duplication of chromosome 11p|Partial trisomy of chromosome 11p|Partial trisomy of the short arm of chromosome 11 +GARD:0020869,Orphanet,ORPHA:262794,Group of disorders,Category,Partial duplication of the short arm of chromosome 16,Partial duplication of chromosome 16p|Partial trisomy of chromosome 16p|Partial trisomy of the short arm of chromosome 16 +GARD:0020870,Orphanet,ORPHA:262803,Group of disorders,Category,Partial duplication of the short arm of chromosome 17,Partial duplication of chromosome 17p|Partial trisomy of chromosome 17p|Partial trisomy of the short arm of chromosome 17 +GARD:0020871,Orphanet,ORPHA:262812,Group of disorders,Category,Partial trisomy/tetrasomy of the short arm of chromosome 18,Partial duplication/triplication of chromosome 18p|Partial duplication/triplication of the short arm of chromosome 18|Partial trisomy/tetrasomy of chromosome 18p +GARD:0020872,Orphanet,ORPHA:262833,Group of disorders,Category,Partial duplication of the long arm of chromosome 1,Partial duplication of chromosome 1q|Partial trisomy of chromosome 1q|Partial trisomy of the long arm of chromosome 1 +GARD:0020873,Orphanet,ORPHA:262842,Group of disorders,Category,Partial duplication of the long arm of chromosome 2,Partial duplication of chromosome 2q|Partial trisomy of chromosome 2q|Partial trisomy of the long arm of chromosome 2 +GARD:0020874,Orphanet,ORPHA:262851,Group of disorders,Category,Partial duplication of the long arm of chromosome 3,Partial duplication of chromosome 3q|Partial trisomy of chromosome 3q +GARD:0020875,Orphanet,ORPHA:262860,Group of disorders,Category,Partial duplication of the long arm of chromosome 4,Partial duplication of chromosome 4q|Partial trisomy of chromosome 4q|Partial trisomy of the long arm of chromosome 4 +GARD:0020876,Orphanet,ORPHA:262869,Group of disorders,Category,Partial trisomy of the long arm of chromosome 5,Partial duplication of chromosome 5q|Partial duplication of the long arm of chromosome 5|Partial trisomy of chromosome 5q +GARD:0020877,Orphanet,ORPHA:262878,Group of disorders,Category,Partial duplication of the long arm of chromosome 6,Partial duplication of chromosome 6q|Partial trisomy of chromosome 6q|Partial trisomy of the long arm of chromosome 6 +GARD:0020878,Orphanet,ORPHA:262887,Group of disorders,Category,Partial duplication of the long arm of chromosome 7,Partial duplication of chromosome 7q|Partial trisomy of chromosome 7q|Partial trisomy of the long arm of chromosome 7 +GARD:0020879,Orphanet,ORPHA:262896,Group of disorders,Category,Partial duplication of the long arm of chromosome 8,Partial duplication of chromosome 8q|Partial trisomy of chromosome 8q|Partial trisomy of the long arm of chromosome 8 +GARD:0020880,Orphanet,ORPHA:262905,Group of disorders,Category,Partial trisomy of the long arm of chromosome 9,Partial duplication of chromosome 9q|Partial duplication of the long arm of chromosome 9|Partial trisomy of chromosome 9q +GARD:0020881,Orphanet,ORPHA:262914,Group of disorders,Category,Partial duplication of the long arm of chromosome 10,Partial duplication of chromosome 10q|Partial trisomy of chromosome 10q|Partial trisomy of the long arm of chromosome 10 +GARD:0020882,Orphanet,ORPHA:262923,Group of disorders,Category,Partial duplication of the long arm of chromosome 11,Partial duplication of chromosome 11q|Partial trisomy of chromosome 11q|Partial trisomy of the long arm of chromosome 11 +GARD:0020883,Orphanet,ORPHA:262932,Group of disorders,Category,Partial duplication of the long arm of chromosome 13,Partial duplication of chromosome 13q|Partial trisomy of chromosome 13q|Partial trisomy of the long arm of chromosome 13 +GARD:0020884,Orphanet,ORPHA:262941,Group of disorders,Category,Partial duplication of the long arm of chromosome 14,Partial duplication of chromosome 14q|Partial trisomy of chromosome 14q|Partial trisomy of the long arm of chromosome 14 +GARD:0020885,Orphanet,ORPHA:262950,Group of disorders,Category,Partial duplication of the long arm of chromosome 15,Partial duplication of chromosome 15q|Partial trisomy of chromosome 15q|Partial trisomy of the long arm of chromosome 15 +GARD:0020886,Orphanet,ORPHA:262959,Group of disorders,Category,Partial trisomy of the long arm of chromosome 16,Partial duplication of chromosome 16q|Partial duplication of the long arm of chromosome 16|Partial trisomy of chromosome 16q +GARD:0020887,Orphanet,ORPHA:262968,Group of disorders,Category,Partial duplication of the long arm of chromosome 17,Partial duplication of chromosome 17q|Partial trisomy of chromosome 17q|Partial trisomy of the long arm of chromosome 17 +GARD:0020888,Orphanet,ORPHA:262977,Group of disorders,Category,Partial trisomy of the long arm of chromosome 18,Partial duplication of chromosome 18q|Partial duplication of the long arm of chromosome 18|Partial trisomy of chromosome 18q +GARD:0020889,Orphanet,ORPHA:262986,Group of disorders,Category,Partial duplication of the long arm of chromosome 19,Partial duplication of chromosome 19q|Partial trisomy of chromosome 19q|Partial trisomy of the long arm of chromosome 19 +GARD:0020890,Orphanet,ORPHA:262995,Group of disorders,Category,Partial trisomy of the long arm of chromosome 20,Partial duplication of chromosome 20q|Partial duplication of the long arm of chromosome 20|Partial trisomy of chromosome 20q +GARD:0020891,Orphanet,ORPHA:263004,Group of disorders,Category,Partial duplication of the long arm of chromosome 22,Partial duplication of chromosome 22q|Partial trisomy of chromosome 22q|Partial trisomy of the long arm of chromosome 22 +GARD:0020892,Orphanet,ORPHA:263310,Subtype of disorder,Histopathological subtype,Thymoma type A,Primary thymic epithelial neoplasm type A|Primary thymic epithelial tumor type A +GARD:0020893,Orphanet,ORPHA:263317,Subtype of disorder,Histopathological subtype,Thymoma type B,Primary thymic epithelial neoplasm type B|Primary thymic epithelial tumor type B +GARD:0020894,Orphanet,ORPHA:263324,Subtype of disorder,Histopathological subtype,Thymoma type AB,Primary thymic epithelial neoplasm type AB|Primary thymic epithelial tumor type AB +GARD:0020895,Orphanet,ORPHA:263331,Subtype of disorder,Histopathological subtype,Well-differentiated thymic neuroendocrine carcinoma, +GARD:0020896,Orphanet,ORPHA:263335,Subtype of disorder,Histopathological subtype,Moderately-differentiated thymic neuroendocrine carcinoma, +GARD:0020897,Orphanet,ORPHA:263339,Subtype of disorder,Histopathological subtype,Poorly differentiated thymic neuroendocrine carcinoma, +GARD:0020898,Orphanet,ORPHA:263352,Disorder,Particular clinical situation in a disease or syndrome,Postcardiotomy right ventricular failure, +GARD:0020899,Orphanet,ORPHA:263410,Disorder,Disease,Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome, +GARD:0020900,Orphanet,ORPHA:263413,Disorder,Disease,Angiosarcoma, +GARD:0020901,Orphanet,ORPHA:263425,Disorder,Disease,Nevus of Ota,Nevus fusculoceruleus ophthalmomaxillaris +GARD:0020902,Orphanet,ORPHA:263435,Disorder,Disease,Congenital smooth muscle hamartoma, +GARD:0020903,Orphanet,ORPHA:263455,Disorder,Disease,Hyperinsulinism due to HNF4A deficiency,Hyperinsulinemic hypoglycemia due to HNF4A deficiency +GARD:0020904,Orphanet,ORPHA:263558,Subtype of disorder,Clinical subtype,Peeling skin syndrome type C,Generalized deciduous skin type C|Generalized peeling skin syndrome type C +GARD:0020905,Orphanet,ORPHA:263665,Disorder,Disease,NK-cell enteropathy, +GARD:0020906,Orphanet,ORPHA:263708,Group of disorders,Category,Complex chromosomal rearrangement, +GARD:0020907,Orphanet,ORPHA:263714,Group of disorders,Category,X chromosome number anomaly, +GARD:0020908,Orphanet,ORPHA:263717,Group of disorders,Category,X chromosome number anomaly with female phenotype, +GARD:0020909,Orphanet,ORPHA:263720,Group of disorders,Category,X chromosome number anomaly with male phenotype, +GARD:0020910,Orphanet,ORPHA:263723,Group of disorders,Category,Polysomy of X chromosome, +GARD:0020911,Orphanet,ORPHA:263726,Group of disorders,Category,Partial deletion of chromosome X,Partial monosomy of chromosome X +GARD:0020912,Orphanet,ORPHA:263731,Group of disorders,Category,Partial monosomy of the short arm of chromosome X,Partial deletion of chromosome Xp|Partial deletion of the short arm of chromosome X|Partial monosomy of chromosome Xp +GARD:0020913,Orphanet,ORPHA:263746,Group of disorders,Category,Y chromosome number anomaly, +GARD:0020914,Orphanet,ORPHA:263749,Group of disorders,Category,X and Y chromosomal anomaly, +GARD:0020915,Orphanet,ORPHA:263756,Group of disorders,Category,Partial deletion of the long arm of chromosome X,Partial deletion of chromosome Xq|Partial monosomy of chromosome Xq|Partial monosomy of the long arm of chromosome X +GARD:0020916,Orphanet,ORPHA:263768,Group of disorders,Category,Partial duplication of chromosome X,Partial trisomy of chromosome X +GARD:0020917,Orphanet,ORPHA:263783,Group of disorders,Category,Partial duplication of the long arm of chromosome X,Partial duplication of chromosome Xq|Partial trisomy of chromosome Xq|Partial trisomy of the long arm of chromosome X +GARD:0020918,Orphanet,ORPHA:263793,Group of disorders,Category,Uniparental disomy of chromosome X,UPD(X) +GARD:0020919,Orphanet,ORPHA:264431,Group of disorders,Category,Partial duplication of the short arm of chromosome 1,Partial duplication of chromosome 1p|Partial trisomy of chromosome 1p +GARD:0020920,Orphanet,ORPHA:264450,Disorder,Malformation syndrome,Trisomy 8p,Duplication 8p +GARD:0020921,Orphanet,ORPHA:264656,Group of disorders,Category,Interstitial lung disease specific to childhood,ILD specific to childhood +GARD:0020922,Orphanet,ORPHA:264670,Group of disorders,Category,Primary interstitial lung disease specific to childhood due to alveolar structure disorder,Primary ILD specific to childhood due to alveolar structure disorder +GARD:0020923,Orphanet,ORPHA:264683,Group of disorders,Category,Primary interstitial lung disease specific to childhood due to alveolar vascular disorder,Primary ILD specific to childhood due to alveolar vascular disorder +GARD:0020924,Orphanet,ORPHA:264691,Disorder,Disease,Isolated pulmonary capillaritis, +GARD:0020925,Orphanet,ORPHA:264694,Group of disorders,Category,Interstitial lung disease specific to infancy,ILD specific to infancy +GARD:0020926,Orphanet,ORPHA:264699,Group of disorders,Category,Secondary interstitial lung disease specific to childhood associated with a systemic disease,Secondary ILD specific to childhood associated with a systemic disease +GARD:0020927,Orphanet,ORPHA:264704,Group of disorders,Category,Secondary interstitial lung disease specific to childhood associated with a connective tissue disease,Secondary ILD specific to childhood associated with a connective tissue disease +GARD:0020928,Orphanet,ORPHA:264709,Group of disorders,Category,Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis,Secondary ILD specific to childhood associated with a systemic vasculitis +GARD:0020929,Orphanet,ORPHA:264714,Group of disorders,Category,Secondary interstitial lung disease specific to childhood associated with a granulomatous disease,Secondary ILD specific to childhood associated with a granulomatous disease +GARD:0020930,Orphanet,ORPHA:264719,Group of disorders,Category,Secondary interstitial lung disease specific to childhood associated with a metabolic disease,Secondary ILD specific to childhood associated with a metabolic disease +GARD:0020931,Orphanet,ORPHA:264735,Group of disorders,Category,Interstitial lung disease specific to adulthood,ILD specific to adulthood +GARD:0020932,Orphanet,ORPHA:264740,Group of disorders,Category,Primary interstitial lung disease specific to adulthood,Primary ILD specific to adulthood +GARD:0020933,Orphanet,ORPHA:264745,Group of disorders,Category,Secondary interstitial lung disease specific to adulthood associated with a systemic disease,Secondary ILD specific to adulthood associated with a systemic disease +GARD:0020934,Orphanet,ORPHA:264757,Group of disorders,Category,Interstitial lung disease in childhood and adulthood,ILD in childhood and adulthood +GARD:0020935,Orphanet,ORPHA:264762,Group of disorders,Category,Primary interstitial lung disease in childhood and adulthood,Primary ILD in childhood and adulthood +GARD:0020936,Orphanet,ORPHA:264930,Group of disorders,Category,Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder,Primary ILD in childhood and adulthood due to alveolar structure disorder +GARD:0020937,Orphanet,ORPHA:264935,Group of disorders,Category,Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder,Primary ILD in childhood and adulthood due to alveolar vascular disorder +GARD:0020938,Orphanet,ORPHA:264944,Group of disorders,Category,Secondary interstitial lung disease in childhood and adulthood,Secondary ILD in childhood and adulthood +GARD:0020939,Orphanet,ORPHA:264949,Group of disorders,Category,Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease,Secondary ILD in childhood and adulthood associated with a systemic disease +GARD:0020940,Orphanet,ORPHA:264968,Group of disorders,Category,Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease,Secondary ILD in childhood and adulthood associated with a metabolic disease +GARD:0020941,Orphanet,ORPHA:264973,Group of disorders,Category,Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis,Secondary ILD in childhood and adulthood associated with a systemic vasculitis +GARD:0020942,Orphanet,ORPHA:264978,Disorder,Particular clinical situation in a disease or syndrome,Drug or radiation exposure-related interstitial lung disease, +GARD:0020943,Orphanet,ORPHA:264984,Group of disorders,Category,Exposure-related interstitial lung disease, +GARD:0020944,Orphanet,ORPHA:264992,Group of disorders,Category,Genetic interstitial lung disease,Genetic ILD +GARD:0020945,Orphanet,ORPHA:268139,Disorder,Disease,Intraocular medulloepithelioma,Orbital medulloepithelioma +GARD:0020946,Orphanet,ORPHA:268249,Disorder,Malformation syndrome,Mycophenolate mofetil embryopathy,MMF embryopathy +GARD:0020947,Orphanet,ORPHA:268261,Subtype of disorder,Etiological subtype,DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,21q22.13q22.2 microdeletion syndrome|Del(21)(q22.13q22.2)|Monosomy 21q22.13q22.2 +GARD:0020948,Orphanet,ORPHA:268316,Disorder,Particular clinical situation in a disease or syndrome,Complication in hemodialysis, +GARD:0020949,Orphanet,ORPHA:268363,Subtype of disorder,Clinical subtype,Open iniencephaly, +GARD:0020950,Orphanet,ORPHA:268366,Subtype of disorder,Clinical subtype,Closed iniencephaly, +GARD:0020951,Orphanet,ORPHA:268369,Disorder,Morphological anomaly,Spina bifida aperta, +GARD:0020952,Orphanet,ORPHA:268377,Subtype of disorder,Clinical subtype,Total spina bifida aperta, +GARD:0020953,Orphanet,ORPHA:268384,Subtype of disorder,Clinical subtype,Thoracolumbosacral spina bifida aperta, +GARD:0020954,Orphanet,ORPHA:268388,Subtype of disorder,Clinical subtype,Lumbosacral spina bifida aperta, +GARD:0020955,Orphanet,ORPHA:268392,Subtype of disorder,Clinical subtype,Cervical spina bifida aperta, +GARD:0020956,Orphanet,ORPHA:268397,Subtype of disorder,Clinical subtype,Cervicothoracic spina bifida aperta, +GARD:0020957,Orphanet,ORPHA:268740,Subtype of disorder,Clinical subtype,Upper thoracic spina bifida aperta, +GARD:0020958,Orphanet,ORPHA:268744,Group of disorders,Clinical group,Spina bifida cystica, +GARD:0020959,Orphanet,ORPHA:268748,Subtype of disorder,Clinical subtype,Total spina bifida cystica, +GARD:0020960,Orphanet,ORPHA:268752,Subtype of disorder,Clinical subtype,Thoracolumbosacral spina bifida cystica, +GARD:0020961,Orphanet,ORPHA:268758,Subtype of disorder,Clinical subtype,Lumbosacral spina bifida cystica, +GARD:0020962,Orphanet,ORPHA:268762,Subtype of disorder,Clinical subtype,Cervical spina bifida cystica, +GARD:0020963,Orphanet,ORPHA:268766,Subtype of disorder,Clinical subtype,Cervicothoracic spina bifida cystica, +GARD:0020964,Orphanet,ORPHA:268770,Subtype of disorder,Clinical subtype,Upper thoracic spina bifida cystica, +GARD:0020965,Orphanet,ORPHA:268810,Disorder,Morphological anomaly,Posterior meningocele, +GARD:0020966,Orphanet,ORPHA:268813,Disorder,Morphological anomaly,Myelocystocele, +GARD:0020967,Orphanet,ORPHA:268817,Group of disorders,Clinical group,Cephalocele, +GARD:0020968,Orphanet,ORPHA:268820,Disorder,Morphological anomaly,Cranial meningocele, +GARD:0020969,Orphanet,ORPHA:268823,Subtype of disorder,Clinical subtype,Occipital encephalocele, +GARD:0020970,Orphanet,ORPHA:268826,Subtype of disorder,Clinical subtype,Parietal encephalocele, +GARD:0020971,Orphanet,ORPHA:268829,Subtype of disorder,Clinical subtype,Basal encephalocele, +GARD:0020972,Orphanet,ORPHA:268832,Group of disorders,Clinical group,Lipoma associated with neurospinal dysraphism, +GARD:0020973,Orphanet,ORPHA:268838,Disorder,Morphological anomaly,Leptomyelolipoma, +GARD:0020974,Orphanet,ORPHA:268843,Group of disorders,Category,"Malformation of the neurenteric canal, spinal cord and column", +GARD:0020975,Orphanet,ORPHA:268865,Disorder,Morphological anomaly,Neurenteric cyst, +GARD:0020976,Orphanet,ORPHA:268868,Disorder,Morphological anomaly,Isolated amyelia, +GARD:0020977,Orphanet,ORPHA:268920,Subtype of disorder,Clinical subtype,Isolated megalencephaly,Isolated macrencephaly +GARD:0020978,Orphanet,ORPHA:268926,Group of disorders,Category,Midline cerebral malformation,Midline brain malformation +GARD:0020979,Orphanet,ORPHA:268936,Disorder,Morphological anomaly,Isolated arhinencephaly, +GARD:0020980,Orphanet,ORPHA:268943,Disorder,Morphological anomaly,Unilateral polymicrogyria, +GARD:0020981,Orphanet,ORPHA:268947,Subtype of disorder,Clinical subtype,Unilateral focal polymicrogyria, +GARD:0020982,Orphanet,ORPHA:268950,Group of disorders,Clinical group,Cerebral cortical dysplasia,Brain cortical dysplasia +GARD:0020983,Orphanet,ORPHA:268961,Subtype of disorder,Clinical subtype,Isolated focal cortical dysplasia type I,FCD type I +GARD:0020984,Orphanet,ORPHA:268973,Subtype of disorder,Histopathological subtype,Isolated focal cortical dysplasia type Ia,FCD type Ia +GARD:0020985,Orphanet,ORPHA:268980,Subtype of disorder,Histopathological subtype,Isolated focal cortical dysplasia type Ib,FCD type Ib +GARD:0020986,Orphanet,ORPHA:268987,Subtype of disorder,Histopathological subtype,Isolated focal cortical dysplasia type Ic,FCD type Ic +GARD:0020987,Orphanet,ORPHA:269190,Group of disorders,Clinical group,Encephaloclastic disorder, +GARD:0020988,Orphanet,ORPHA:269194,Group of disorders,Category,Central nervous system cystic malformation, +GARD:0020989,Orphanet,ORPHA:269197,Disorder,Morphological anomaly,Glioependymal/ependymal cyst, +GARD:0020990,Orphanet,ORPHA:269203,Disorder,Morphological anomaly,Isolated cerebellar vermis agenesis, +GARD:0020991,Orphanet,ORPHA:269206,Subtype of disorder,Clinical subtype,Isolated total cerebellar vermis agenesis, +GARD:0020992,Orphanet,ORPHA:269209,Subtype of disorder,Clinical subtype,Isolated partial cerebellar vermis agenesis, +GARD:0020993,Orphanet,ORPHA:269212,Subtype of disorder,Clinical subtype,Isolated Dandy-Walker malformation with hydrocephalus, +GARD:0020994,Orphanet,ORPHA:269215,Subtype of disorder,Clinical subtype,Isolated Dandy-Walker malformation without hydrocephalus, +GARD:0020995,Orphanet,ORPHA:269218,Disorder,Morphological anomaly,Isolated unilateral hemispheric cerebellar hypoplasia, +GARD:0020996,Orphanet,ORPHA:269221,Disorder,Morphological anomaly,Isolated bilateral hemispheric cerebellar hypoplasia, +GARD:0020997,Orphanet,ORPHA:269224,Group of disorders,Category,Global cerebellar malformation,Diffuse cerebellar malformation +GARD:0020998,Orphanet,ORPHA:269505,Subtype of disorder,Clinical subtype,Congenital communicating hydrocephalus,Congenital non-obstructive hydrocephalus +GARD:0020999,Orphanet,ORPHA:269523,Group of disorders,Category,Syndrome with a cerebellar malformation as a major feature, +GARD:0021000,Orphanet,ORPHA:269528,Group of disorders,Category,Syndrome with microcephaly as a major feature, +GARD:0021001,Orphanet,ORPHA:269531,Group of disorders,Category,Other syndrome with a central nervous system malformation as a major feature, +GARD:0021002,Orphanet,ORPHA:269546,Group of disorders,Category,Syndrome with a Dandy-Walker malformation as a major feature, +GARD:0021003,Orphanet,ORPHA:269550,Group of disorders,Category,Genetic non-syndromic central nervous system malformation, +GARD:0021004,Orphanet,ORPHA:269553,Group of disorders,Category,Genetic cerebral malformation,Genetic brain malformation +GARD:0021005,Orphanet,ORPHA:269557,Group of disorders,Category,Genetic posterior fossa malformation, +GARD:0021006,Orphanet,ORPHA:269560,Group of disorders,Category,Genetic cerebellar malformation, +GARD:0021007,Orphanet,ORPHA:269564,Group of disorders,Category,Genetic syndrome with a central nervous system malformation as a major feature,Genetic syndrome with a CNS malformation as major feature +GARD:0021008,Orphanet,ORPHA:269567,Group of disorders,Category,Genetic syndrome with a cerebellar malformation as a major feature, +GARD:0021009,Orphanet,ORPHA:269570,Group of disorders,Category,Genetic syndrome with a Dandy-Walker malformation as a major feature, +GARD:0021010,Orphanet,ORPHA:269573,Group of disorders,Category,Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature, +GARD:0021011,Orphanet,ORPHA:271832,Group of disorders,Category,Genetic soft tissue tumor,Genetic mesenchymal tumor +GARD:0021012,Orphanet,ORPHA:271835,Group of disorders,Category,Genetic digestive tract tumor, +GARD:0021013,Orphanet,ORPHA:271841,Group of disorders,Category,Genetic cardiac tumor, +GARD:0021014,Orphanet,ORPHA:271844,Group of disorders,Category,Genetic urogenital tumor, +GARD:0021015,Orphanet,ORPHA:271847,Group of disorders,Category,Genetic neuroendocrine tumor, +GARD:0021016,Orphanet,ORPHA:271853,Group of disorders,Category,Genetic cardiac anomaly, +GARD:0021017,Orphanet,ORPHA:271861,Group of disorders,Clinical group,Hereditary ATTR amyloidosis,Familial TTR-related amyloidosis|Familial transthyretin-related amyloidosis +GARD:0021018,Orphanet,ORPHA:271870,Group of disorders,Category,Rare genetic systemic or rheumatologic disease, +GARD:0021019,Orphanet,ORPHA:275729,Group of disorders,Category,Rare hemorrhagic disorder due to a constitutional thrombocytopenia,Rare bleeding disorder due to a constitutional thrombocytopenia|Rare bleeding disorder due to a quantitative platelet defect|Rare coagulopathy due to a constitutional thrombocytopenia|Rare coagulopathy due to a quantitative platelet defect|Rare hemorrhagic disorder due to a quantitative platelet defect +GARD:0021020,Orphanet,ORPHA:275736,Group of disorders,Category,Rare hemorrhagic disorder due to a qualitative platelet defect,Rare bleeding disorder due to a constitutional thrombopathy|Rare bleeding disorder due to a qualitative platelet defect|Rare coagulopathy due to a constitutional thrombopathy|Rare coagulopathy due to a qualitative platelet defect|Rare hemorrhagic disorder due to a constitutional thrombopathy +GARD:0021021,Orphanet,ORPHA:275742,Group of disorders,Category,Genetic infertility, +GARD:0021022,Orphanet,ORPHA:275745,Group of disorders,Category,Alpha-thalassemia and related disorders, +GARD:0021023,Orphanet,ORPHA:275749,Group of disorders,Category,Beta-thalassemia and related diseases, +GARD:0021024,Orphanet,ORPHA:275752,Group of disorders,Category,Sickle cell disease and related diseases, +GARD:0021025,Orphanet,ORPHA:275766,Subtype of disorder,Etiological subtype,Idiopathic pulmonary arterial hypertension,IPAH|Primary pulmonary arterial hypertension +GARD:0021026,Orphanet,ORPHA:275786,Group of disorders,Clinical group,Drug- or toxin-induced pulmonary arterial hypertension,Drug- or toxin-induced PAH +GARD:0021027,Orphanet,ORPHA:275791,Group of disorders,Category,Pulmonary arterial hypertension associated with another disease,PAH associated with another disease|Secondary PAH +GARD:0021028,Orphanet,ORPHA:275798,Group of disorders,Clinical group,Pulmonary arterial hypertension associated with connective tissue disease,PAH associated with connective tissue disease +GARD:0021029,Orphanet,ORPHA:275803,Group of disorders,Clinical group,Pulmonary arterial hypertension associated with congenital heart disease,PAH associated with congenital heart disease +GARD:0021030,Orphanet,ORPHA:275808,Group of disorders,Clinical group,Pulmonary arterial hypertension associated with HIV infection,PAH associated with HIV infaction +GARD:0021031,Orphanet,ORPHA:275813,Group of disorders,Clinical group,Pulmonary arterial hypertension associated with portal hypertension,PAH associated with portal hypertension|POPH|Portopulmonary hypertension +GARD:0021032,Orphanet,ORPHA:275823,Group of disorders,Clinical group,Pulmonary arterial hypertension associated with schistosomiasis,PAH associated with schistosomiasis +GARD:0021033,Orphanet,ORPHA:275828,Group of disorders,Clinical group,Pulmonary arterial hypertension associated with chronic hemolytic anemia,PAH associated with chronic hemolytic anemia +GARD:0021034,Orphanet,ORPHA:275837,Group of disorders,Clinical group,Pulmonary hypertension owing to lung disease and/or hypoxia,PH due to lung disease and/or hypoxia|PH owing to lung disease and/or hypoxia|Pulmonary hypertension due to lung disease and/or hypoxia +GARD:0021035,Orphanet,ORPHA:275844,Group of disorders,Clinical group,Pulmonary hypertension with unclear multifactorial mechanism,PH with unclear multifactorial mechanism +GARD:0021036,Orphanet,ORPHA:275853,Group of disorders,Category,Syndrome with pulmonary hypertension as a major feature, +GARD:0021037,Orphanet,ORPHA:275938,Group of disorders,Category,Hemolytic disease due to fetomaternal alloimmunization,HDFN|Hemolytic disease of the fetus and newborn +GARD:0021038,Orphanet,ORPHA:275944,Disorder,Disease,Hemolytic disease of the newborn with Kell alloimmunization,Anti-K HDN|Maternal anti-Kell alloimmunization +GARD:0021039,Orphanet,ORPHA:276058,Group of disorders,Category,Genetic neurodegenerative disease with dementia, +GARD:0021040,Orphanet,ORPHA:276061,Group of disorders,Category,Genetic frontotemporal degeneration with dementia, +GARD:0021041,Orphanet,ORPHA:276066,Disorder,Disease,Bile acid CoA ligase deficiency and defective amidation, +GARD:0021042,Orphanet,ORPHA:276142,Group of disorders,Category,Rare tumor of salivary glands, +GARD:0021043,Orphanet,ORPHA:276145,Disorder,Disease,Malignant epithelial tumor of salivary glands, +GARD:0021044,Orphanet,ORPHA:276161,Group of disorders,Clinical group,Multiple endocrine neoplasia,MEN +GARD:0021045,Orphanet,ORPHA:276174,Disorder,Disease,Idiopathic recurrent stupor, +GARD:0021046,Orphanet,ORPHA:276212,Subtype of disorder,Clinical subtype,"Mucopolysaccharidosis type 6, rapidly progressing","Arylsulfatase B deficiency, rapidly progressing|MPS6, rapidly progressing|MPSVI, rapidly progressing|Mucopolysaccharidosis type VI, rapidly progressing" +GARD:0021047,Orphanet,ORPHA:276223,Subtype of disorder,Clinical subtype,"Mucopolysaccharidosis type 6, slowly progressing","Arylsulfatase B deficiency, slowly progressing|MPS6, slowly progressing|MPSVI, slowly progressing|Mucopolysaccharidosis type VI, slowly progressing" +GARD:0021048,Orphanet,ORPHA:276238,Subtype of disorder,Clinical subtype,Machado-Joseph disease type 1,"SCA3, Joseph type|Spinocerebellar ataxia type 3, Joseph type" +GARD:0021049,Orphanet,ORPHA:276241,Subtype of disorder,Clinical subtype,Machado-Joseph disease type 2,"SCA3, Thomas type|Spinocerebellar ataxia, Thomas type" +GARD:0021050,Orphanet,ORPHA:276244,Subtype of disorder,Clinical subtype,Machado-Joseph disease type 3,"SCA3, Machado type|Spinocerebellar ataxia type 3, Machado type" +GARD:0021051,Orphanet,ORPHA:276280,Disorder,Malformation syndrome,Hemihyperplasia-multiple lipomatosis syndrome,HHML +GARD:0021052,Orphanet,ORPHA:276422,Disorder,Malformation syndrome,10q22.3q23.3 microduplication syndrome,Dup(10)(q22.3q23.3)|Trisomy 10q22.3q23.3 +GARD:0021053,Orphanet,ORPHA:276525,Group of disorders,Category,Familial hyperinsulinism,FHI|Familial hyperinsulinemic hypoglycemia +GARD:0021054,Orphanet,ORPHA:276556,Disorder,Disease,Hyperinsulinism due to UCP2 deficiency,Hyperinsulinemic hypoglycemia due to UCP2 deficiency +GARD:0021055,Orphanet,ORPHA:276585,Group of disorders,Clinical group,Diazoxide-resistant hyperinsulinism,Diazoxide-resistant hyperinsulinemic hypoglycemia +GARD:0021056,Orphanet,ORPHA:276608,Disorder,Disease,Non-insulinoma pancreatogenous hypoglycemia syndrome,NIPHS +GARD:0021057,Orphanet,ORPHA:276630,Disorder,Malformation syndrome,Symptomatic form of Coffin-Lowry syndrome in female carriers, +GARD:0021058,Orphanet,ORPHA:279882,Disorder,Clinical syndrome,Spasmus nutans, +GARD:0021059,Orphanet,ORPHA:279888,Subtype of disorder,Clinical subtype,Acute endophthalmitis, +GARD:0021060,Orphanet,ORPHA:279891,Subtype of disorder,Clinical subtype,Chronic endophthalmitis, +GARD:0021061,Orphanet,ORPHA:279894,Disorder,Disease,Toxic maculopathy due to antimalarial drugs, +GARD:0021062,Orphanet,ORPHA:279897,Disorder,Disease,Primary oculocerebral lymphoma,Primary oculocerebral non-Hodgkin lymphoma +GARD:0021063,Orphanet,ORPHA:279904,Disorder,Disease,Primary intraocular lymphoma,PIOL|Primary intraocular non-Hodgkin lymphoma +GARD:0021064,Orphanet,ORPHA:279911,Group of disorders,Category,Primary organ-specific lymphoma, +GARD:0021065,Orphanet,ORPHA:279914,Disorder,Disease,Intermediate uveitis,IU +GARD:0021066,Orphanet,ORPHA:279919,Disorder,Disease,Infectious posterior uveitis, +GARD:0021067,Orphanet,ORPHA:279922,Disorder,Disease,Infectious anterior uveitis, +GARD:0021068,Orphanet,ORPHA:279925,Disorder,Disease,Infectious panuveitis, +GARD:0021069,Orphanet,ORPHA:279928,Disorder,Disease,Paraneoplastic uveitis, +GARD:0021070,Orphanet,ORPHA:280065,Subtype of disorder,Clinical subtype,Calciphylaxis cutis, +GARD:0021071,Orphanet,ORPHA:280068,Subtype of disorder,Clinical subtype,Visceral calciphylaxis, +GARD:0021072,Orphanet,ORPHA:280205,Subtype of disorder,Clinical subtype,Laryngotracheoesophageal cleft type 0,LTEC0|Laryngo-tracheo-esophageal cleft type 0 +GARD:0021073,Orphanet,ORPHA:280219,Subtype of disorder,Clinical subtype,"Pelizaeus-Merzbacher disease, classic form",Classic PMD +GARD:0021074,Orphanet,ORPHA:280224,Subtype of disorder,Clinical subtype,"Pelizaeus-Merzbacher disease, transitional form",Transitional PMD +GARD:0021075,Orphanet,ORPHA:280229,Subtype of disorder,Clinical subtype,Pelizaeus-Merzbacher disease in female carriers, +GARD:0021076,Orphanet,ORPHA:280302,Subtype of disorder,Clinical subtype,Autoimmune pancreatitis type 1,AIP type 1|IgG4-related pancreatitis|Lymphoplasmacytic sclerosing pancreatitis +GARD:0021077,Orphanet,ORPHA:280315,Disorder,Disease,Autoimmune pancreatitis type 2,AIP type 2|Duct-centric pancreatitis +GARD:0021078,Orphanet,ORPHA:280325,Disorder,Malformation syndrome,Distal monosomy 12p,12p13.33 microdeletion syndrome|Del(12)(p13.33)|Distal deletion 12p +GARD:0021079,Orphanet,ORPHA:280342,Group of disorders,Category,Rare systemic or rheumatological disease of childhood, +GARD:0021080,Orphanet,ORPHA:280365,Disorder,Disease,Autosomal semi-dominant severe lipodystrophic laminopathy, +GARD:0021081,Orphanet,ORPHA:280369,Group of disorders,Category,Rare pediatric vasculitis, +GARD:0021082,Orphanet,ORPHA:280373,Group of disorders,Category,Rare pediatric systemic disease, +GARD:0021083,Orphanet,ORPHA:280384,Disorder,Disease,Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,IDMDC +GARD:0021084,Orphanet,ORPHA:280397,Disorder,Disease,Familial Alzheimer-like prion disease, +GARD:0021085,Orphanet,ORPHA:280400,Group of disorders,Category,Inherited human prion disease,Familial prion disease|Genetic human prion disease +GARD:0021086,Orphanet,ORPHA:280403,Disorder,Malformation syndrome,Familial omphalocele syndrome with facial dysmorphism, +GARD:0021087,Orphanet,ORPHA:280774,Disorder,Disease,Generalized essential telangiectasia,GET +GARD:0021088,Orphanet,ORPHA:280785,Subtype of disorder,Clinical subtype,Bullous diffuse cutaneous mastocytosis,Bullous DCM +GARD:0021089,Orphanet,ORPHA:280794,Subtype of disorder,Clinical subtype,Pseudoxanthomatous diffuse cutaneous mastocytosis,Infiltrative small vesicular DCM|Infiltrative small vesicular diffuse cutaneous mastocytosis|Pseudoxanthomatous DCM +GARD:0021090,Orphanet,ORPHA:280802,Subtype of disorder,Clinical subtype,Intralobar congenital pulmonary sequestration,Congenital intrapulmonary sequestration|Intralobar congenital bronchopulmonary sequestration +GARD:0021091,Orphanet,ORPHA:280811,Subtype of disorder,Clinical subtype,Extralobar congenital pulmonary sequestration,Congenital extrapulmonary sequestration|Extralobar congenital bronchopulmonary sequestration +GARD:0021092,Orphanet,ORPHA:280821,Subtype of disorder,Clinical subtype,Communicating congenital bronchopulmonary-foregut malformation, +GARD:0021093,Orphanet,ORPHA:280827,Subtype of disorder,Clinical subtype,Congenital pulmonary airway malformation type 0,CPAM type 0|Congenital cystic adenomatoid malformation of the lung type 0|Congenital cystic adenomatous malformation of the lung type 0 +GARD:0021094,Orphanet,ORPHA:280832,Subtype of disorder,Clinical subtype,Congenital pulmonary airway malformation type 1,CCAM type 1|CPAM type 1|Congenital cystic adenomatoid malformation of the lung type 1|Congenital cystic adenomatous malformation of the lung type 1|Congenital cystic disease of the lung type 1 +GARD:0021095,Orphanet,ORPHA:280840,Subtype of disorder,Clinical subtype,Congenital pulmonary airway malformation type 2,CCAM type 2|CPAM type 2|Congenital cystic adenomatoid malformation of the lung type 2|Congenital cystic adenomatous malformation of the lung type 2|Congenital cystic disease of the lung type 2 +GARD:0021096,Orphanet,ORPHA:280847,Subtype of disorder,Clinical subtype,Congenital pulmonary airway malformation type 3,CCAM type 3|CPAM type 3|Congenital cystic adenomatoid malformation of the lung type 3|Congenital cystic adenomatous malformation of the lung type 3|Congenital cystic disease of the lung type 3 +GARD:0021097,Orphanet,ORPHA:280854,Subtype of disorder,Clinical subtype,Congenital pulmonary airway malformation type 4,CPAM type 4|Congenital cystic adenomatoid malformation of the lung type 4|Congenital cystic adenomatous malformation of the lung type 4 +GARD:0021098,Orphanet,ORPHA:280914,Disorder,Disease,Idiopathic anterior uveitis, +GARD:0021099,Orphanet,ORPHA:280917,Disorder,Disease,Idiopathic posterior uveitis, +GARD:0021100,Orphanet,ORPHA:280921,Disorder,Disease,Idiopathic panuveitis, +GARD:0021101,Orphanet,ORPHA:280926,Group of disorders,Category,Systemic diseases with anterior uveitis, +GARD:0021102,Orphanet,ORPHA:280930,Group of disorders,Category,Systemic diseases with posterior uveitis, +GARD:0021103,Orphanet,ORPHA:280933,Group of disorders,Category,Systemic diseases with panuveitis, +GARD:0021104,Orphanet,ORPHA:281082,Group of disorders,Category,Inherited non-syndromic ichthyosis, +GARD:0021105,Orphanet,ORPHA:281085,Group of disorders,Category,Inherited ichthyosis syndromic form, +GARD:0021106,Orphanet,ORPHA:281097,Group of disorders,Clinical group,Autosomal recessive congenital ichthyosis,ARCI +GARD:0021107,Orphanet,ORPHA:281103,Group of disorders,Clinical group,Keratinopathic ichthyosis,KPI +GARD:0021108,Orphanet,ORPHA:281127,Disorder,Disease,Acral self-healing collodion baby,Acral SHCB +GARD:0021109,Orphanet,ORPHA:281210,Group of disorders,Clinical group,X-linked ichthyosis syndrome, +GARD:0021110,Orphanet,ORPHA:281217,Group of disorders,Category,Autosomal ichthyosis syndrome, +GARD:0021111,Orphanet,ORPHA:281222,Group of disorders,Category,Autosomal ichthyosis syndrome with prominent hair abnormalities, +GARD:0021112,Orphanet,ORPHA:281238,Group of disorders,Category,Autosomal ichthyosis syndrome with prominent neurologic signs, +GARD:0021113,Orphanet,ORPHA:281241,Group of disorders,Category,Autosomal ichthyosis syndrome with fatal disease course, +GARD:0021114,Orphanet,ORPHA:281244,Group of disorders,Category,Autosomal ichthyosis syndrome with other associated signs, +GARD:0021115,Orphanet,ORPHA:282124,Group of disorders,Category,Partial deletion of chromosome 12,Partial monosomy of chromosome 12 +GARD:0021116,Orphanet,ORPHA:282196,Group of disorders,Clinical group,Autoimmune polyendocrinopathy,APS|Autoimmune polyglandular syndrome +GARD:0021117,Orphanet,ORPHA:284180,Disorder,Malformation syndrome,Xp22.13p22.2 duplication syndrome,Dup(X)(p22)|Dup(X)(p22.13p22.2)|Duplication Xp22 +GARD:0021118,Orphanet,ORPHA:284362,Subtype of disorder,Clinical subtype,Fetal lung interstitial tumor,FLIT|Immature interstitial mesenchymal tumor +GARD:0021119,Orphanet,ORPHA:284385,Group of disorders,Category,Familial intrahepatic cholestasis, +GARD:0021120,Orphanet,ORPHA:284395,Disorder,Disease,Well-differentiated fetal adenocarcinoma of the lung,WDFA +GARD:0021121,Orphanet,ORPHA:284460,Disorder,Disease,Acute annular outer retinopathy,AAOR +GARD:0021122,Orphanet,ORPHA:284786,Group of disorders,Category,Qualitative or quantitative defects of troponin, +GARD:0021123,Orphanet,ORPHA:284790,Group of disorders,Category,Qualitative or quantitative defects of tropomyosin, +GARD:0021124,Orphanet,ORPHA:284804,Group of disorders,Clinical group,Ocular albinism, +GARD:0021125,Orphanet,ORPHA:284811,Group of disorders,Category,Syndromic oculocutaneous albinism, +GARD:0021126,Orphanet,ORPHA:284814,Group of disorders,Category,Disorder of phenylalanine metabolism, +GARD:0021127,Orphanet,ORPHA:284818,Group of disorders,Category,Disorder of tyrosine metabolism, +GARD:0021128,Orphanet,ORPHA:284979,Disorder,Disease,Neonatal Marfan syndrome,Neonatal MFS +GARD:0021129,Orphanet,ORPHA:284993,Group of disorders,Category,Marfan syndrome and Marfan-related disorders, +GARD:0021130,Orphanet,ORPHA:285014,Group of disorders,Category,Rare disease with thoracic aortic aneurysm and aortic dissection, +GARD:0021131,Orphanet,ORPHA:285657,Group of disorders,Category,Disorder of folate metabolism and transport, +GARD:0021132,Orphanet,ORPHA:289098,Group of disorders,Category,Disorders of vitamin D metabolism, +GARD:0021133,Orphanet,ORPHA:289103,Group of disorders,Clinical group,Hypocalcemic rickets, +GARD:0021134,Orphanet,ORPHA:289266,Disorder,Disease,Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation, +GARD:0021135,Orphanet,ORPHA:289347,Disorder,Disease,Infective dermatitis associated with HTLV-1,IDH|Infective dermatitis associated with human T-lymphotropic virus type 1|Infective dermatitis associated with human T-lymphotropic virus type I +GARD:0021136,Orphanet,ORPHA:289356,Disorder,Disease,Primary non-gestational choriocarcinoma of ovary,NGCO|Primary non-gestational ovarian choriocarcinoma +GARD:0021137,Orphanet,ORPHA:289362,Subtype of disorder,Clinical subtype,Non-central nervous system-localized embryonal carcinoma,Non-CNS-localized embryonal carcinoma +GARD:0021138,Orphanet,ORPHA:289385,Disorder,Particular clinical situation in a disease or syndrome,Malignancy diagnosed during pregnancy,Cancer diagnosed during pregnancy +GARD:0021139,Orphanet,ORPHA:289478,Disorder,Disease,Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome,PASH syndrome +GARD:0021140,Orphanet,ORPHA:289494,Disorder,Disease,4H leukodystrophy,POLR-related leukodystrophy +GARD:0021141,Orphanet,ORPHA:289513,Disorder,Malformation syndrome,12q15q21.1 microdeletion syndrome,Del(12)(q15)(q21.1)|Deletion 12q15q21.1|Monosomy 12q15q21.1 +GARD:0021142,Orphanet,ORPHA:289522,Disorder,Malformation syndrome,Microtriplication 11q24.1,Tetrasomy 11q24.1 +GARD:0021143,Orphanet,ORPHA:289548,Disorder,Disease,Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency, +GARD:0021144,Orphanet,ORPHA:289596,Disorder,Disease,Juvenile nasopharyngeal angiofibroma,JNA +GARD:0021145,Orphanet,ORPHA:289635,Group of disorders,Category,Rare virus associated tumor, +GARD:0021146,Orphanet,ORPHA:289638,Group of disorders,Category,Epstein-Barr Virus-related tumor,EBV-related tumor +GARD:0021147,Orphanet,ORPHA:289644,Group of disorders,Category,Epstein-Barr virus-associated malignant lymphoproliferative disorder,EBV-associated lymphoproliferative disorder +GARD:0021148,Orphanet,ORPHA:289651,Group of disorders,Category,Epstein-Barr Virus-associated carcinoma,EBV-associated carcinoma +GARD:0021149,Orphanet,ORPHA:289656,Group of disorders,Category,Epstein-Barr Virus-associated mesenchymal tumor,EBV-associated mesenchymal tumor +GARD:0021150,Orphanet,ORPHA:289661,Disorder,Disease,Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly,EBV-positive DLBCL of the elderly +GARD:0021151,Orphanet,ORPHA:289682,Disorder,Disease,Lymphoepithelial-like carcinoma, +GARD:0021152,Orphanet,ORPHA:289685,Disorder,Disease,Myopericytoma, +GARD:0021153,Orphanet,ORPHA:289825,Group of disorders,Clinical group,Late-onset primary lymphedema without systemic or visceral involvement, +GARD:0021154,Orphanet,ORPHA:289829,Group of disorders,Category,Disorder of tryptophan metabolism, +GARD:0021155,Orphanet,ORPHA:289832,Group of disorders,Category,Disorder of lysine and hydroxylysine metabolism, +GARD:0021156,Orphanet,ORPHA:289841,Group of disorders,Category,Disorder of glutamine metabolism, +GARD:0021157,Orphanet,ORPHA:289866,Group of disorders,Category,Disorder of proline metabolism, +GARD:0021158,Orphanet,ORPHA:289869,Group of disorders,Category,Disorder of ornithine metabolism, +GARD:0021159,Orphanet,ORPHA:289877,Disorder,Particular clinical situation in a disease or syndrome,Transient hyperammonemia of the newborn, +GARD:0021160,Orphanet,ORPHA:290836,Group of disorders,Category,Systemic disease with skin involvement, +GARD:0021161,Orphanet,ORPHA:290839,Group of disorders,Category,Autoinflammatory syndrome with immune deficiency, +GARD:0021162,Orphanet,ORPHA:290842,Group of disorders,Category,Autoinflammatory syndrome with skin involvement, +GARD:0021163,Orphanet,ORPHA:290849,Group of disorders,Category,Rare head and neck tumor, +GARD:0021164,Orphanet,ORPHA:293173,Disorder,Disease,Acute generalized exanthematous pustulosis,AGEP|Pustular drug eruption|Toxic pustuloderma +GARD:0021165,Orphanet,ORPHA:293199,Subtype of disorder,Clinical subtype,Pleomorphic rhabdomyosarcoma, +GARD:0021166,Orphanet,ORPHA:293284,Subtype of disorder,Clinical subtype,Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria,BH4-responsive HPA/PKU|BH4-responsive hyperphenylalaninemia/phenylketonuria|Tetrahydrobiopterin-responsive HPA/PKU +GARD:0021167,Orphanet,ORPHA:293375,Disorder,Disease,Grayson-Wilbrandt corneal dystrophy,GWCD +GARD:0021168,Orphanet,ORPHA:293462,Disorder,Disease,Pre-Descemet corneal dystrophy,PDCD +GARD:0021169,Orphanet,ORPHA:293807,Disorder,Disease,Ketamine-induced biliary dilatation, +GARD:0021170,Orphanet,ORPHA:293812,Disorder,Disease,Fixed drug eruption, +GARD:0021171,Orphanet,ORPHA:293815,Group of disorders,Category,Toxic dermatosis, +GARD:0021172,Orphanet,ORPHA:293830,Group of disorders,Category,Constitutional dyserythropoietic anemia, +GARD:0021173,Orphanet,ORPHA:293948,Disorder,Malformation syndrome,1p21.3 microdeletion syndrome,Del(1)(p21.3)|Monosomy 1p21.3 +GARD:0021174,Orphanet,ORPHA:293967,Disorder,Malformation syndrome,Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome,Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome +GARD:0021175,Orphanet,ORPHA:294026,Disorder,Malformation syndrome,Syndactyly-nystagmus syndrome due to 2q31.1 microduplication,Syndactyly-nystagmus syndrome due to dup(2)(q31.1)|Syndactyly-nystagmus syndrome due to trisomy 2q31.1 +GARD:0021176,Orphanet,ORPHA:294057,Group of disorders,Category,Rare nevus, +GARD:0021177,Orphanet,ORPHA:294060,Group of disorders,Clinical group,Multiple pterygium syndrome, +GARD:0021178,Orphanet,ORPHA:294422,Disorder,Clinical syndrome,Chronic intestinal failure,CIF +GARD:0021179,Orphanet,ORPHA:294925,Group of disorders,Clinical group,Amelia, +GARD:0021180,Orphanet,ORPHA:294927,Group of disorders,Clinical group,Intercalary limb defects,Intercalary meromelia +GARD:0021181,Orphanet,ORPHA:294944,Group of disorders,Category,Congenital deformities of limbs, +GARD:0021182,Orphanet,ORPHA:294947,Group of disorders,Category,Congenital deformities of fingers, +GARD:0021183,Orphanet,ORPHA:294949,Group of disorders,Category,Joint formation defects, +GARD:0021184,Orphanet,ORPHA:294951,Group of disorders,Category,Congenital joint dislocations, +GARD:0021185,Orphanet,ORPHA:294953,Group of disorders,Category,Non syndromic limb overgrowth, +GARD:0021186,Orphanet,ORPHA:294955,Group of disorders,Category,Syndrome with limb reduction defects, +GARD:0021187,Orphanet,ORPHA:294957,Group of disorders,Category,Dysostosis with combined reduction defects of upper and lower limbs, +GARD:0021188,Orphanet,ORPHA:294959,Group of disorders,Category,"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy", +GARD:0021189,Orphanet,ORPHA:294963,Group of disorders,Clinical group,Popliteal pterygium syndrome, +GARD:0021190,Orphanet,ORPHA:294967,Disorder,Morphological anomaly,Amelia of upper limb, +GARD:0021191,Orphanet,ORPHA:294969,Disorder,Morphological anomaly,Amelia of lower limb, +GARD:0021192,Orphanet,ORPHA:294973,Disorder,Morphological anomaly,Humeral agenesis/hypoplasia,Congenital absence of humerus|Congenital hypoplasia of humerus|Humeral intercalary meromelia +GARD:0021193,Orphanet,ORPHA:294977,Disorder,Morphological anomaly,Congenital absence of thigh and lower leg with foot present,Femorotibiofibular intercalary transverse meromelia +GARD:0021194,Orphanet,ORPHA:294979,Disorder,Morphological anomaly,Congenital absence of both forearm and hand,Radio-ulnar terminal transverse meromelia +GARD:0021195,Orphanet,ORPHA:294981,Disorder,Morphological anomaly,Congenital absence of both lower leg and foot,Tibiofibular terminal transverse meromelia +GARD:0021196,Orphanet,ORPHA:294983,Disorder,Morphological anomaly,Acheiria,Congenital absence of hand +GARD:0021197,Orphanet,ORPHA:294986,Disorder,Morphological anomaly,Apodia,Congenital absence of foot +GARD:0021198,Orphanet,ORPHA:294988,Disorder,Morphological anomaly,Congenital hypoplasia of thumb,Congenital absence/hypoplasia of thumb|Thumb hypodactyly|Thumb oligodactyly +GARD:0021199,Orphanet,ORPHA:295002,Disorder,Morphological anomaly,Hyperphalangy,Supernumerary phalanges|Supernumerary phalanx +GARD:0021200,Orphanet,ORPHA:295004,Disorder,Morphological anomaly,Central polydactyly,Mesoaxial polydactyly +GARD:0021201,Orphanet,ORPHA:295012,Disorder,Morphological anomaly,Syndactyly type 6,"Mitten hand|Syndactyly, mitten type|Unilateral syndactyly of digits 2-5" +GARD:0021202,Orphanet,ORPHA:295014,Disorder,Morphological anomaly,Familial isolated clinodactyly of fingers, +GARD:0021203,Orphanet,ORPHA:295018,Subtype of disorder,Clinical subtype,Congenital pseudoarthrosis of the tibia,Congenital pseudarthrosis of the tibia +GARD:0021204,Orphanet,ORPHA:295020,Subtype of disorder,Clinical subtype,Congenital pseudoarthrosis of the femur,Congenital pseudarthrosis of the femur +GARD:0021205,Orphanet,ORPHA:295022,Subtype of disorder,Clinical subtype,Congenital pseudoarthrosis of the fibula,Congenital pseudarthrosis of the fibula +GARD:0021206,Orphanet,ORPHA:295024,Subtype of disorder,Clinical subtype,Congenital pseudoarthrosis of the radius,Congenital pseudarthrosis of the radius +GARD:0021207,Orphanet,ORPHA:295026,Subtype of disorder,Clinical subtype,Congenital pseudoarthrosis of the ulna,Congenital pseudarthrosis of the ulna +GARD:0021208,Orphanet,ORPHA:295028,Disorder,Morphological anomaly,Tibio-fibular synostosis,Tibio-fibular fusion +GARD:0021209,Orphanet,ORPHA:295030,Disorder,Morphological anomaly,True congenital shoulder dislocation, +GARD:0021210,Orphanet,ORPHA:295032,Disorder,Morphological anomaly,Isolated congenital radial head dislocation,Isolated congenital elbow dislocation +GARD:0021211,Orphanet,ORPHA:295034,Disorder,Morphological anomaly,Congenital knee dislocation, +GARD:0021212,Orphanet,ORPHA:295049,Disorder,Morphological anomaly,Upper limb hypertrophy, +GARD:0021213,Orphanet,ORPHA:295051,Disorder,Morphological anomaly,Lower limb hypertrophy, +GARD:0021214,Orphanet,ORPHA:295189,Subtype of disorder,Clinical subtype,Zygodactyly type 2,"SD1, Lueken type|SD1b|Syndactyly type 1, Lueken type|Syndactyly type 1b|Zygodactyly, Lueken type" +GARD:0021215,Orphanet,ORPHA:295191,Subtype of disorder,Clinical subtype,Zygodactyly type 3,"SD1, Montagu type|SD1c|Syndactyly type 1, Montagu type|Syndactyly type 1c|Zygodactyly, Montagu type" +GARD:0021216,Orphanet,ORPHA:295193,Subtype of disorder,Clinical subtype,Zygodactyly type 4,"SD1, Castilla type|SD1d|Syndactyly type 1, Castilla type|Syndactyly type 1d|Zygodactyly, Castilla type" +GARD:0021217,Orphanet,ORPHA:295201,Subtype of disorder,Clinical subtype,"Congenital vertical talus, unilateral", +GARD:0021218,Orphanet,ORPHA:295203,Subtype of disorder,Clinical subtype,"Congenital vertical talus, bilateral", +GARD:0021219,Orphanet,ORPHA:295213,Subtype of disorder,Clinical subtype,"Humero-ulnar synostosis, unilateral","Humero-ulnar fusion, unilateral" +GARD:0021220,Orphanet,ORPHA:295215,Subtype of disorder,Clinical subtype,"Humero-ulnar synostosis, bilateral","Humero-ulnar fusion, bilateral" +GARD:0021221,Orphanet,ORPHA:295217,Subtype of disorder,Clinical subtype,"Radio-ulnar synostosis, unilateral","Radio-ulnar fusion, unilateral" +GARD:0021222,Orphanet,ORPHA:295219,Subtype of disorder,Clinical subtype,"Radio-ulnar synostosis, bilateral","Radio-ulnar fusion, bilateral" +GARD:0021223,Orphanet,ORPHA:295225,Subtype of disorder,Clinical subtype,"Congenital elbow dislocation, unilateral", +GARD:0021224,Orphanet,ORPHA:295227,Subtype of disorder,Clinical subtype,"Congenital elbow dislocation, bilateral", +GARD:0021225,Orphanet,ORPHA:295229,Subtype of disorder,Clinical subtype,Congenital genu recurvatum, +GARD:0021226,Orphanet,ORPHA:295232,Subtype of disorder,Clinical subtype,Congenital genu flexum, +GARD:0021227,Orphanet,ORPHA:295239,Subtype of disorder,Clinical subtype,"Macrodactyly of fingers, unilateral","Macrodactyly of hand, unilateral" +GARD:0021228,Orphanet,ORPHA:295241,Subtype of disorder,Clinical subtype,"Macrodactyly of fingers, bilateral","Macrodactyly of hand, bilateral" +GARD:0021229,Orphanet,ORPHA:295243,Subtype of disorder,Clinical subtype,"Macrodactyly of toes, unilateral","Macrodactyly of foot, unilateral" +GARD:0021230,Orphanet,ORPHA:295245,Subtype of disorder,Clinical subtype,"Macrodactyly of toes, bilateral","Macrodactyly of foot, bilateral" +GARD:0021231,Orphanet,ORPHA:298644,Group of disorders,Category,Disorder of thiamine metabolism and transport, +GARD:0021232,Orphanet,ORPHA:300305,Disorder,Malformation syndrome,11p15.4 microduplication syndrome,Dup(11)p(15.4)|Trisomy 11p15.4 +GARD:0021233,Orphanet,ORPHA:300493,Disorder,Particular clinical situation in a disease or syndrome,Sagliker syndrome, +GARD:0021234,Orphanet,ORPHA:300512,Disorder,Disease,Onychomatricoma, +GARD:0021235,Orphanet,ORPHA:300515,Group of disorders,Category,Rare nail tumor, +GARD:0021236,Orphanet,ORPHA:300552,Disorder,Disease,Follicular cholangitis and pancreatitis,Follicular pancreatocholangitis +GARD:0021237,Orphanet,ORPHA:300557,Disorder,Disease,Carcinoma of the ampulla of Vater,Ampullary carcinoma|Ampulloma +GARD:0021238,Orphanet,ORPHA:300564,Disorder,Disease,Combined pulmonary fibrosis-emphysema syndrome,CPFE +GARD:0021239,Orphanet,ORPHA:300579,Group of disorders,Category,Staphylococcal toxemia, +GARD:0021240,Orphanet,ORPHA:300755,Group of disorders,Category,Laminopathy with striated muscle involvement, +GARD:0021241,Orphanet,ORPHA:300758,Group of disorders,Category,Laminopathy with peripheral neuropathy, +GARD:0021242,Orphanet,ORPHA:300763,Group of disorders,Category,Laminopathy with lipodystrophy, +GARD:0021243,Orphanet,ORPHA:300766,Group of disorders,Category,Laminopathy with premature aging, +GARD:0021244,Orphanet,ORPHA:300842,Group of disorders,Category,Indolent B-cell non-Hodgkin lymphoma,Indolent B-cell NHL +GARD:0021245,Orphanet,ORPHA:300846,Group of disorders,Category,Aggressive B-cell non-Hodgkin lymphoma,Aggressive B-cell NHL +GARD:0021246,Orphanet,ORPHA:300849,Disorder,Disease,Diffuse large B-cell lymphoma of the central nervous system,DLBCL of the CNS +GARD:0021247,Orphanet,ORPHA:300865,Disorder,Disease,Primary cutaneous anaplastic large cell lymphoma,Primary C-ALCL|Regressive atypical histiocytosis +GARD:0021248,Orphanet,ORPHA:300869,Disorder,Disease,Splenic diffuse red pulp small B-cell lymphoma,SDRPL|Splenic diffuse red pulp lymphoma +GARD:0021249,Orphanet,ORPHA:300878,Disorder,Disease,Hairy cell leukemia variant,HCL-v|Leukemic reticuloendotheliosis variant|Prolymphocytic variant of HCL|Prolymphocytic variant of hairy cell leukemia +GARD:0021250,Orphanet,ORPHA:300888,Disorder,Disease,Diffuse large B-cell lymphoma with chronic inflammation,DLBCL with chronic inflammation +GARD:0021251,Orphanet,ORPHA:300895,Subtype of disorder,Histopathological subtype,ALK-positive anaplastic large cell lymphoma,ALK+ ALCL|ALK+ anaplastic large cell lymphoma +GARD:0021252,Orphanet,ORPHA:300903,Subtype of disorder,Histopathological subtype,ALK-negative anaplastic large cell lymphoma,ALK- ALCL|ALK- anaplastic large cell lymphoma +GARD:0021253,Orphanet,ORPHA:304055,Group of disorders,Category,Pituitary tumor, +GARD:0021254,Orphanet,ORPHA:306516,Disorder,Disease,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis,FHHNC|Michellis-Castrillo syndrome +GARD:0021255,Orphanet,ORPHA:306553,Disorder,Disease,Myospherulosis,Spherulocytosis|Subcutaneous spherulocystic disease +GARD:0021256,Orphanet,ORPHA:306633,Group of disorders,Category,Rare tumor of gallbladder and extrahepatic biliary tract,Rare tumor of gallbladder and EBT +GARD:0021257,Orphanet,ORPHA:306636,Group of disorders,Category,Rare tumor of liver and intrahepatic biliary tract,Rare tumor of liver and IBT +GARD:0021258,Orphanet,ORPHA:306640,Group of disorders,Category,Rare intoxication due to medical products, +GARD:0021259,Orphanet,ORPHA:306644,Disorder,Particular clinical situation in a disease or syndrome,Complication after organ transplantation, +GARD:0021260,Orphanet,ORPHA:306648,Group of disorders,Category,Non-infectious anterior uveitis,Non-infectious iridocyclitis +GARD:0021261,Orphanet,ORPHA:306666,Group of disorders,Category,Rare parkinsonian syndrome due to neurodegenerative disease, +GARD:0021262,Orphanet,ORPHA:306669,Disorder,Disease,Hemiparkinsonism-hemiatrophy syndrome,HP-HA syndrome +GARD:0021263,Orphanet,ORPHA:306679,Group of disorders,Category,Rare parkinsonian syndrome due to intoxication, +GARD:0021264,Orphanet,ORPHA:306682,Disorder,Disease,Manganese poisoning,Manganese intoxication|Manganism +GARD:0021265,Orphanet,ORPHA:306686,Disorder,Disease,Delayed encephalopathy due to carbon monoxide poisoning,Delayed encephalopathy due to CO poisoning +GARD:0021266,Orphanet,ORPHA:306692,Disorder,Disease,Cyanide-induced parkinsonism-dystonia, +GARD:0021267,Orphanet,ORPHA:306695,Group of disorders,Category,Miscellaneous movement disorder due to neurodegenerative disease, +GARD:0021268,Orphanet,ORPHA:306708,Group of disorders,Category,Frontotemporal neurodegeneration with movement disorder, +GARD:0021269,Orphanet,ORPHA:306712,Group of disorders,Category,Rare tremor disorder, +GARD:0021270,Orphanet,ORPHA:306715,Group of disorders,Category,Rare choreic movement disorder, +GARD:0021271,Orphanet,ORPHA:306719,Group of disorders,Category,Neurodegenerative disease with chorea, +GARD:0021272,Orphanet,ORPHA:306727,Group of disorders,Category,Postinfectious autoimmune disease with chorea, +GARD:0021273,Orphanet,ORPHA:306741,Disorder,Disease,Hemidystonia-hemiatrophy syndrome,HD-HA syndrome +GARD:0021274,Orphanet,ORPHA:306747,Group of disorders,Category,Rare myoclonus, +GARD:0021275,Orphanet,ORPHA:306750,Group of disorders,Category,Primary myoclonus, +GARD:0021276,Orphanet,ORPHA:306753,Group of disorders,Category,Rare disease with myoclonus as a major feature, +GARD:0021277,Orphanet,ORPHA:306756,Group of disorders,Category,Epilepsy and/or ataxia with myoclonus as a major feature, +GARD:0021278,Orphanet,ORPHA:306759,Group of disorders,Category,Non progressive epilepsy and/or ataxia with myoclonus as a major feature, +GARD:0021279,Orphanet,ORPHA:306765,Group of disorders,Category,Motor stereotypies, +GARD:0021280,Orphanet,ORPHA:306768,Group of disorders,Category,Rare paroxysmal movement disorder, +GARD:0021281,Orphanet,ORPHA:306773,Group of disorders,Clinical group,Hyperekplexia, +GARD:0021282,Orphanet,ORPHA:306776,Disorder,Disease,Sporadic hyperekplexia, +GARD:0021283,Orphanet,ORPHA:307052,Group of disorders,Category,Rare genetic parkinsonian disorder,Rare genetic hypokinetic movement disorder +GARD:0021284,Orphanet,ORPHA:307055,Group of disorders,Category,Rare parkinsonian syndrome due to genetic neurodegenerative disease, +GARD:0021285,Orphanet,ORPHA:307058,Group of disorders,Category,Miscellaneous movement disorder due to genetic neurodegenerative disease, +GARD:0021286,Orphanet,ORPHA:307061,Group of disorders,Category,Rare genetic tremor disorder, +GARD:0021287,Orphanet,ORPHA:307064,Group of disorders,Category,Rare genetic myoclonus, +GARD:0021288,Orphanet,ORPHA:307067,Group of disorders,Category,Rare genetic disease with myoclonus as a major feature, +GARD:0021289,Orphanet,ORPHA:307141,Group of disorders,Category,Diffuse palmoplantar keratoderma,Diffuse PPK|Diffuse keratosis palmoplantaris|Diffuse palmoplantar hyperkeratosis +GARD:0021290,Orphanet,ORPHA:307148,Group of disorders,Clinical group,Isolated diffuse palmoplantar keratoderma,Isolated diffuse PPK|Isolated diffuse keratosis palmoplantaris|Isolated diffuse palmoplantar hyperkeratosis +GARD:0021291,Orphanet,ORPHA:307711,Group of disorders,Category,Disease with diffuse palmoplantar keratoderma as a major feature,Disease with diffuse palmoplantar hyperkeratosis as a major feature +GARD:0021292,Orphanet,ORPHA:307773,Group of disorders,Clinical group,Autosomal dominant diffuse mutilating palmoplantar keratoderma,Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis +GARD:0021293,Orphanet,ORPHA:307804,Group of disorders,Category,Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature,Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature +GARD:0021294,Orphanet,ORPHA:307837,Group of disorders,Category,Focal palmoplantar keratoderma,Focal PPK|Focal keratosis palmoplantaris|Focal palmoplantar hyperkeratosis +GARD:0021295,Orphanet,ORPHA:307846,Group of disorders,Clinical group,Isolated focal palmoplantar keratoderma,Isolated focal PPK|Isolated focal keratosis palmoplantaris|Isolated focal palmoplantar hyperkeratosis +GARD:0021296,Orphanet,ORPHA:307871,Group of disorders,Category,Disease with focal palmoplantar keratoderma as a major feature,Disease with focal palmoplantar hyperkeratosis as a major feature +GARD:0021297,Orphanet,ORPHA:307967,Group of disorders,Category,Punctate palmoplantar keratoderma,Punctate PPK|Punctate keratosis palmoplantaris|Punctate palmoplantar hyperkeratosis +GARD:0021298,Orphanet,ORPHA:307995,Group of disorders,Clinical group,Marginal papular palmoplantar keratoderma,Marginal papular palmoplantar hyperkeratosis +GARD:0021299,Orphanet,ORPHA:308013,Disorder,Disease,Focal acral hyperkeratosis,PPKP3 without elastoidosis|PPPK3 without elastoidosis|Punctate palmoplantar hyperkeratosis type 3 without elastoidosis|Punctate palmoplantar keratoderma type 3 without elastoidosis +GARD:0021300,Orphanet,ORPHA:308023,Group of disorders,Category,Disease with punctate palmoplantar keratoderma as a major feature,Disease with punctate palmoplantar hyperkeratosis as a major feature +GARD:0021301,Orphanet,ORPHA:308031,Group of disorders,Category,Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature,Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature +GARD:0021302,Orphanet,ORPHA:308041,Group of disorders,Category,Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature,Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature +GARD:0021303,Orphanet,ORPHA:308407,Group of disorders,Category,Disorder of beta and omega amino acid metabolism, +GARD:0021304,Orphanet,ORPHA:308448,Group of disorders,Clinical group,Aminoacylase deficiency, +GARD:0021305,Orphanet,ORPHA:308451,Group of disorders,Category,Disorder of neutral amino acid transport, +GARD:0021306,Orphanet,ORPHA:308459,Group of disorders,Category,Disorder of glycolysis, +GARD:0021307,Orphanet,ORPHA:308463,Group of disorders,Category,Disorder of fructose metabolism, +GARD:0021308,Orphanet,ORPHA:308467,Group of disorders,Category,Disorder of galactose metabolism, +GARD:0021309,Orphanet,ORPHA:308520,Group of disorders,Clinical group,Glycogen storage disease due to glycogen synthase deficiency,GSD due to glycogen synthase deficiency|Glycogenosis due to glycogen synthase deficiency +GARD:0021310,Orphanet,ORPHA:308552,Subtype of disorder,Clinical subtype,"Glycogen storage disease due to acid maltase deficiency, infantile onset","Alpha-1,4-glucosidase acid deficiency, infantile onset|GSD due to acid maltase deficiency, infantile onset|GSD type 2, infantile onset|GSD type II, infantile onset|Glycogen storage disease type 2, infantile onset|Glycogen storage disease type II, infantile onset|Glycogenosis due to acid maltase deficiency, infantile onset|Glycogenosis type 2, infantile onset|Glycogenosis type II, infantile onset|Pompe disease, infantile onset" +GARD:0021311,Orphanet,ORPHA:308993,Group of disorders,Clinical group,Glycerol kinase deficiency, +GARD:0021312,Orphanet,ORPHA:308998,Group of disorders,Category,Disorder of glyoxylate metabolism, +GARD:0021313,Orphanet,ORPHA:309001,Group of disorders,Category,Disorder of carbohydrate absorption and transport, +GARD:0021314,Orphanet,ORPHA:309005,Group of disorders,Category,Disorder of lipid metabolism, +GARD:0021315,Orphanet,ORPHA:309025,Disorder,Disease,Mevalonate kinase deficiency,MKD +GARD:0021316,Orphanet,ORPHA:309028,Group of disorders,Category,Disorder of lipid absorption and transport, +GARD:0021317,Orphanet,ORPHA:309115,Group of disorders,Category,Disorder of fatty acid oxidation and ketogenesis, +GARD:0021318,Orphanet,ORPHA:309120,Group of disorders,Clinical group,Acyl-CoA dehydrogenase deficiency, +GARD:0021319,Orphanet,ORPHA:309127,Group of disorders,Clinical group,3-hydroxyacyl-CoA dehydrogenase deficiency, +GARD:0021320,Orphanet,ORPHA:309130,Group of disorders,Category,Disorder of carnitine cycle and carnitine transport, +GARD:0021321,Orphanet,ORPHA:309133,Group of disorders,Category,Metabolic disease due to other fatty acid oxidation disorder, +GARD:0021322,Orphanet,ORPHA:309136,Group of disorders,Category,Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes, +GARD:0021323,Orphanet,ORPHA:309152,Group of disorders,Clinical group,GM2 gangliosidosis, +GARD:0021324,Orphanet,ORPHA:309178,Subtype of disorder,Clinical subtype,"Tay-Sachs disease, B variant, infantile form","GM2 gangliosidosis, B variant, infantile form|Hexosaminidase A deficiency, infantile form" +GARD:0021325,Orphanet,ORPHA:309185,Subtype of disorder,Clinical subtype,"Tay-Sachs disease, B variant, juvenile form","GM2 gangliosidosis, B variant, juvenile form|Hexosaminidase A deficiency, juvenile form" +GARD:0021326,Orphanet,ORPHA:309192,Subtype of disorder,Clinical subtype,"Tay-Sachs disease, B variant, adult form","GM2 gangliosidosis, B variant, adult form|Hexosaminidase A deficiency, adult form" +GARD:0021327,Orphanet,ORPHA:309239,Subtype of disorder,Clinical subtype,"Tay-Sachs disease, B1 variant","GM2 gangliosidosis, B1 variant|Hexosaminidase A deficiency, B1 variant" +GARD:0021328,Orphanet,ORPHA:309256,Subtype of disorder,Clinical subtype,"Metachromatic leukodystrophy, late infantile form","Arylsulfatase A deficiency, late infantile form|MLD, late infantile form" +GARD:0021329,Orphanet,ORPHA:309263,Subtype of disorder,Clinical subtype,"Metachromatic leukodystrophy, juvenile form","Arylsulfatase A deficiency, juvenile form|MLD, juvenile form" +GARD:0021330,Orphanet,ORPHA:309271,Subtype of disorder,Clinical subtype,"Metachromatic leukodystrophy, adult form","Arylsulfatase A deficiency, adult form|MLD, adult form" +GARD:0021331,Orphanet,ORPHA:309294,Group of disorders,Clinical group,Sialidosis, +GARD:0021332,Orphanet,ORPHA:309319,Group of disorders,Category,Disorder of sialic acid metabolism, +GARD:0021333,Orphanet,ORPHA:309337,Group of disorders,Category,Lysosomal glycogen storage disease, +GARD:0021334,Orphanet,ORPHA:309340,Group of disorders,Category,Disorder of lysosomal-related organelles, +GARD:0021335,Orphanet,ORPHA:309347,Group of disorders,Category,Disorder of protein N-glycosylation, +GARD:0021336,Orphanet,ORPHA:309447,Group of disorders,Category,Disorder of protein O-glycosylation, +GARD:0021337,Orphanet,ORPHA:309450,Group of disorders,Category,Disorder of O-xylosylglycan synthesis, +GARD:0021338,Orphanet,ORPHA:309458,Group of disorders,Category,Disorder of O-N-acetylgalactosaminylglycan synthesis, +GARD:0021339,Orphanet,ORPHA:309463,Group of disorders,Category,Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis, +GARD:0021340,Orphanet,ORPHA:309469,Group of disorders,Category,Disorder of O-mannosylglycan synthesis, +GARD:0021341,Orphanet,ORPHA:309505,Group of disorders,Category,Disorder of fucoglycosan synthesis, +GARD:0021342,Orphanet,ORPHA:309515,Group of disorders,Category,Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation,Disorder of glycosphingolipid and GPI-anchored proteins glycosylation +GARD:0021343,Orphanet,ORPHA:309526,Group of disorders,Category,Disorder of multiple glycosylation, +GARD:0021344,Orphanet,ORPHA:309568,Group of disorders,Category,Defect in conserved oligomeric Golgi complex,Defect in COG complex +GARD:0021345,Orphanet,ORPHA:309778,Group of disorders,Category,Defect in V-ATPase, +GARD:0021346,Orphanet,ORPHA:309813,Group of disorders,Category,Disorder of porphyrin and heme metabolism, +GARD:0021347,Orphanet,ORPHA:309816,Group of disorders,Category,Disorder of bilirubin metabolism and excretion, +GARD:0021348,Orphanet,ORPHA:309819,Group of disorders,Category,Disorder of pterin metabolism, +GARD:0021349,Orphanet,ORPHA:309824,Group of disorders,Category,Disorder of metabolite absorption and transport, +GARD:0021350,Orphanet,ORPHA:309827,Group of disorders,Category,Disorder of vitamin and non-protein cofactor absorption and transport, +GARD:0021351,Orphanet,ORPHA:309830,Group of disorders,Category,Disorder of catecholamine synthesis, +GARD:0021352,Orphanet,ORPHA:309833,Group of disorders,Category,Disorder of other vitamins and cofactors metabolism and transport, +GARD:0021353,Orphanet,ORPHA:309836,Group of disorders,Category,Disorder of mineral absorption and transport, +GARD:0021354,Orphanet,ORPHA:309839,Group of disorders,Category,Disorder of copper metabolism, +GARD:0021355,Orphanet,ORPHA:309842,Group of disorders,Category,Disorder of iron metabolism and transport, +GARD:0021356,Orphanet,ORPHA:309845,Group of disorders,Category,Disorder of zinc metabolism and transport, +GARD:0021357,Orphanet,ORPHA:309848,Group of disorders,Category,Disorder of magnesium transport, +GARD:0021358,Orphanet,ORPHA:309851,Group of disorders,Category,Disorder of manganese transport, +GARD:0021359,Orphanet,ORPHA:310050,Group of disorders,Category,Acquired immunodeficiency, +GARD:0021360,Orphanet,ORPHA:313781,Disorder,Malformation syndrome,20p13 microdeletion syndrome,20p subtelomeric deletion syndrome|Del(20)(p13)|Monosomy 20p13 +GARD:0021361,Orphanet,ORPHA:313906,Disorder,Morphological anomaly,Congenital pancreatic cyst,Neonatal congenital pancreatic cyst|True congenital pancreatic cyst +GARD:0021362,Orphanet,ORPHA:313920,Disorder,Disease,Epstein-Barr virus-associated gastric carcinoma,EBV-associated gastric carcinoma|EBVaGC +GARD:0021363,Orphanet,ORPHA:313947,Disorder,Malformation syndrome,2q23.1 microduplication syndrome,Dup(2)(q23.1)|Trisomy 2q23.1 +GARD:0021364,Orphanet,ORPHA:314002,Disorder,Malformation syndrome,Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome,Dinno syndrome +GARD:0021365,Orphanet,ORPHA:314017,Disorder,Disease,Idiopathic linear interstitial keratitis, +GARD:0021366,Orphanet,ORPHA:314029,Disorder,Disease,High bone mass osteogenesis imperfecta,High bone mass OI +GARD:0021367,Orphanet,ORPHA:314034,Disorder,Malformation syndrome,7p22.1 microduplication syndrome,Dup(7)(p22.1)|Trisomy 7p22.1 +GARD:0021368,Orphanet,ORPHA:314041,Disorder,Malformation syndrome,Marfanoid habitus-inguinal hernia-advanced bone age syndrome, +GARD:0021369,Orphanet,ORPHA:314389,Disorder,Malformation syndrome,Xq12-q13.3 duplication syndrome,Dup(X)(q12-q13.3) +GARD:0021370,Orphanet,ORPHA:314425,Group of disorders,Category,Rare odontogenic tumor, +GARD:0021371,Orphanet,ORPHA:314432,Disorder,Malformation syndrome,Spigelian hernia-cryptorchidism syndrome, +GARD:0021372,Orphanet,ORPHA:314451,Disorder,Clinical syndrome,Meigs syndrome,Demons-Meigs syndrome +GARD:0021373,Orphanet,ORPHA:314459,Disorder,Clinical syndrome,Pseudo-Meigs syndrome,Pseudo-Demons-Meigs syndrome +GARD:0021374,Orphanet,ORPHA:314466,Disorder,Clinical syndrome,Atypical Meigs syndrome,Atypical Demons-Meigs syndrome|Incomplete Meigs syndrome +GARD:0021375,Orphanet,ORPHA:314473,Disorder,Disease,Ovarian fibroma, +GARD:0021376,Orphanet,ORPHA:314478,Disorder,Disease,Ovarian fibrothecoma, +GARD:0021377,Orphanet,ORPHA:314566,Disorder,Disease,Primary progressive apraxia of speech,PPAOS +GARD:0021378,Orphanet,ORPHA:314572,Disorder,Disease,Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome, +GARD:0021379,Orphanet,ORPHA:314575,Disorder,Malformation syndrome,Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome, +GARD:0021380,Orphanet,ORPHA:314613,Disorder,Particular clinical situation in a disease or syndrome,Growing teratoma syndrome, +GARD:0021381,Orphanet,ORPHA:314621,Disorder,Morphological anomaly,Duplication of the pituitary gland,DPG-plus syndrome|Duplication of the pituitary gland-plus syndrome|Hypophyseal duplication +GARD:0021382,Orphanet,ORPHA:314652,Disorder,Disease,Variant ABeta2M amyloidosis,Autosomal dominant beta2-microglobulinic amyloidosis +GARD:0021383,Orphanet,ORPHA:314655,Subtype of disorder,Etiological subtype,Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,5q31.3 microdeletion syndrome|Del(5)(q31.3)|Monosomy 5q31.3 +GARD:0021384,Orphanet,ORPHA:314662,Disorder,Disease,Segmental progressive overgrowth syndrome with fibroadipose hyperplasia, +GARD:0021385,Orphanet,ORPHA:314684,Disorder,Disease,Primary bone lymphoma, +GARD:0021386,Orphanet,ORPHA:314697,Subtype of disorder,Etiological subtype,Acquired porencephaly, +GARD:0021387,Orphanet,ORPHA:314709,Subtype of disorder,Clinical subtype,Primary localized amyloidosis,Localized AL amyloidosis +GARD:0021388,Orphanet,ORPHA:314749,Group of disorders,Category,Rare disease with Cushing syndrome as a major feature, +GARD:0021389,Orphanet,ORPHA:314753,Group of disorders,Clinical group,Functioning pituitary adenoma,Endocrine active pituitary adenoma|Secreting pituitary adenoma +GARD:0021390,Orphanet,ORPHA:314759,Group of disorders,Category,Mixed functioning pituitary adenoma,Mixed secreting pituitary adenoma +GARD:0021391,Orphanet,ORPHA:314769,Disorder,Disease,Somatomammotropinoma,GH and PRL cosecreting pituitary adenoma|Growth hormone and prolactin cosecreting pituitary adenoma|Somatolactotropinoma|Somatoprolactinoma +GARD:0021392,Orphanet,ORPHA:314786,Subtype of disorder,Histopathological subtype,Silent pituitary adenoma, +GARD:0021393,Orphanet,ORPHA:314790,Subtype of disorder,Histopathological subtype,Null pituitary adenoma, +GARD:0021394,Orphanet,ORPHA:314889,Subtype of disorder,Clinical subtype,Autosomal dominant proximal renal tubular acidosis,AD pRTA +GARD:0021395,Orphanet,ORPHA:314950,Disorder,Disease,Primary hypereosinophilic syndrome,Clonal hypereosinophilic syndrome|HES-M|HES-N|Neoplastic hypereosinophilic syndrome|Primary HES +GARD:0021396,Orphanet,ORPHA:314962,Disorder,Disease,Secondary hypereosinophilic syndrome,HES-R|Reactive hypereosinophilic syndrome|Secondary HES +GARD:0021397,Orphanet,ORPHA:314970,Subtype of disorder,Clinical subtype,Lymphocytic hypereosinophilic syndrome,HES-L|Lymphocytic variant HES|Lymphoid HES +GARD:0021398,Orphanet,ORPHA:315306,Subtype of disorder,Clinical subtype,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form","Classic 21-OHD CAH, salt wasting form" +GARD:0021399,Orphanet,ORPHA:315311,Subtype of disorder,Clinical subtype,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form","Classic 21-OHD CAH, simple virilizing form" +GARD:0021400,Orphanet,ORPHA:315350,Group of disorders,Category,Autoimmune disease with skin involvement, +GARD:0021401,Orphanet,ORPHA:316226,Group of disorders,Clinical group,Spastic ataxia,SPAX +GARD:0021402,Orphanet,ORPHA:316235,Group of disorders,Category,Autosomal dominant spastic ataxia,AD-SPAX +GARD:0021403,Orphanet,ORPHA:316240,Group of disorders,Category,Autosomal recessive spastic ataxia,AR-SPAX +GARD:0021404,Orphanet,ORPHA:316244,Group of disorders,Category,Partial deletion of the short arm of chromosome 12,Partial deletion of chromosome 12p|Partial monosomy of chromosome 12p|Partial monosomy of the short arm of chromosome 12 +GARD:0021405,Orphanet,ORPHA:317416,Group of disorders,Clinical group,T-B+ severe combined immunodeficiency,T-B+ SCID +GARD:0021406,Orphanet,ORPHA:317419,Group of disorders,Clinical group,T-B- severe combined immunodeficiency,T-B- SCID +GARD:0021407,Orphanet,ORPHA:319192,Disorder,Morphological anomaly,Diencephalic-mesencephalic junction dysplasia, +GARD:0021408,Orphanet,ORPHA:319195,Disorder,Disease,Chondroectodermal dysplasia with night blindness, +GARD:0021409,Orphanet,ORPHA:319205,Subtype of disorder,Etiological subtype,Bilateral massive adrenal hemorrhage,BMAH|Bilateral adrenal hemorrhage +GARD:0021410,Orphanet,ORPHA:319213,Disorder,Disease,Lujo hemorrhagic fever,Zambian hemorrhagic fever +GARD:0021411,Orphanet,ORPHA:319223,Disorder,Disease,Argentine hemorrhagic fever,Argentinian hemorrhagic fever|Junin hemorrhagic fever +GARD:0021412,Orphanet,ORPHA:319229,Disorder,Disease,Bolivian hemorrhagic fever,Machupo hemorrhagic fever +GARD:0021413,Orphanet,ORPHA:319234,Disorder,Disease,Venezuelan hemorrhagic fever,Guanarito hemorrhagic fever +GARD:0021414,Orphanet,ORPHA:319239,Disorder,Disease,Brazilian hemorrhagic fever,Sabia hemorrhagic fever +GARD:0021415,Orphanet,ORPHA:319244,Disorder,Disease,Chapare hemorrhagic fever, +GARD:0021416,Orphanet,ORPHA:319251,Disorder,Disease,Rift valley fever, +GARD:0021417,Orphanet,ORPHA:319287,Subtype of disorder,Histopathological subtype,Multilocular cystic renal neoplasm of low malignant potential,MCRCC|Multilocular clear cell adenocarcinoma|Multilocular clear cell carcinoma|Multilocular clear cell renal cell adenocarcinoma|Multilocular clear cell renal cell carcinoma|Multilocular cystic renal cell adenocarcinoma|Multilocular cystic renal cell carcinoma +GARD:0021418,Orphanet,ORPHA:319322,Disorder,Disease,Mucinous tubular and spindle cell renal carcinoma, +GARD:0021419,Orphanet,ORPHA:319325,Disorder,Disease,Tubulocystic renal cell carcinoma, +GARD:0021420,Orphanet,ORPHA:319328,Group of disorders,Category,Inherited renal cancer-predisposing syndrome, +GARD:0021421,Orphanet,ORPHA:319494,Group of disorders,Clinical group,Familial nonmedullary thyroid carcinoma, +GARD:0021422,Orphanet,ORPHA:319535,Group of disorders,Category,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency,Autosomal recessive MSMD due to a complete deficiency +GARD:0021423,Orphanet,ORPHA:319539,Group of disorders,Category,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency,Autosomal recessive MSMD due to a partial deficiency +GARD:0021424,Orphanet,ORPHA:319543,Group of disorders,Category,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency,Autosomal dominant MSMD due to a partial deficiency +GARD:0021425,Orphanet,ORPHA:319589,Disorder,Disease,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Autosomal dominant MSMD due to partial IFNgammaR2 deficiency|Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency|Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency +GARD:0021426,Orphanet,ORPHA:319667,Disorder,Disease,Primary lymphoma of the conjunctiva,Primary lymphoid conjunctival tumor +GARD:0021427,Orphanet,ORPHA:319719,Group of disorders,Category,Autoinflammatory syndrome of childhood, +GARD:0021428,Orphanet,ORPHA:320332,Group of disorders,Clinical group,X-linked pure spastic paraplegia, +GARD:0021429,Orphanet,ORPHA:320335,Group of disorders,Clinical group,Pure or complex hereditary spastic paraplegia,Pure or complex familial spastic paraplegia|Pure or complicated familial spastic paraplegia|Pure or complicated hereditary spastic paraplegia +GARD:0021430,Orphanet,ORPHA:320342,Group of disorders,Clinical group,Pure or complex autosomal dominant spastic paraplegia,Pure or complicated autosomal dominant spastic paraplegia +GARD:0021431,Orphanet,ORPHA:320346,Group of disorders,Clinical group,Pure or complex autosomal recessive spastic paraplegia,Pure or complicated autosomal recessive spastic paraplegia +GARD:0021432,Orphanet,ORPHA:320350,Group of disorders,Clinical group,Pure or complex X-linked spastic paraplegia,Pure or complicated X-linked spastic paraplegia +GARD:0021433,Orphanet,ORPHA:320360,Disorder,Disease,MT-ATP6-related mitochondrial spastic paraplegia,Maternally-inherited SPG|Maternally-inherited spastic paraplegia +GARD:0021434,Orphanet,ORPHA:322126,Group of disorders,Category,Genetic tumor of hematopoietic and lymphoid tissues, +GARD:0021435,Orphanet,ORPHA:324299,Disorder,Disease,Multiple paragangliomas associated with polycythemia,Multiple paragangliomas associated with erythrocytosis|Paraganglioma-somatostatinoma-polycythemia syndrome +GARD:0021436,Orphanet,ORPHA:324307,Disorder,Disease,Severe lateral tibial bowing with short stature, +GARD:0021437,Orphanet,ORPHA:324313,Disorder,Malformation syndrome,9p13 microdeletion syndrome,Del(9)(p13)|Monosomy 9p13 +GARD:0021438,Orphanet,ORPHA:324353,Disorder,Morphological anomaly,Congenital achiasma, +GARD:0021439,Orphanet,ORPHA:324364,Disorder,Disease,Mixed sclerosing bone dystrophy with extra-skeletal manifestations, +GARD:0021440,Orphanet,ORPHA:324381,Disorder,Disease,Hereditary inclusion body myopathy type 4,HIBM4 +GARD:0021441,Orphanet,ORPHA:324416,Disorder,Malformation syndrome,Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome, +GARD:0021442,Orphanet,ORPHA:324525,Disorder,Disease,Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation,Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation|Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation +GARD:0021443,Orphanet,ORPHA:324540,Disorder,Malformation syndrome,Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome,Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome|Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome +GARD:0021444,Orphanet,ORPHA:324575,Disorder,Disease,Hyperinsulinism due to HNF1A deficiency,Hyperinsulinemic hypoglycemia due to HNF1A deficiency +GARD:0021445,Orphanet,ORPHA:324581,Disorder,Disease,Benign Samaritan congenital myopathy, +GARD:0021446,Orphanet,ORPHA:324585,Disorder,Disease,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,Autosomal dominant intermediate CMT disease with neuropathic pain +GARD:0021447,Orphanet,ORPHA:324611,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,CMT2 due to KIF5A mutation +GARD:0021448,Orphanet,ORPHA:324632,Disorder,Disease,Hendra virus infection, +GARD:0021449,Orphanet,ORPHA:324648,Disorder,Disease,Invasive non-typhoidal salmonellosis,Invasive non-typhoidal salmonella disease|iNTS disease +GARD:0021450,Orphanet,ORPHA:324761,Group of disorders,Clinical group,Microcephalic primordial dwarfism, +GARD:0021451,Orphanet,ORPHA:324764,Group of disorders,Clinical group,Trichorhinophalangeal syndrome, +GARD:0021452,Orphanet,ORPHA:324767,Group of disorders,Category,Non-familial rare disease with dilated cardiomyopathy, +GARD:0021453,Orphanet,ORPHA:324924,Group of disorders,Category,Hereditary periodic fever syndrome, +GARD:0021454,Orphanet,ORPHA:324927,Group of disorders,Category,Pyogenic autoinflammatory syndrome, +GARD:0021455,Orphanet,ORPHA:324930,Group of disorders,Category,Granulomatous autoinflammatory syndrome, +GARD:0021456,Orphanet,ORPHA:324933,Group of disorders,Category,Mixed autoinflammatory and autoimmune syndrome, +GARD:0021457,Orphanet,ORPHA:324936,Group of disorders,Category,Unclassified autoinflammatory syndrome, +GARD:0021458,Orphanet,ORPHA:324939,Group of disorders,Category,Periodic fever syndrome of childhood, +GARD:0021459,Orphanet,ORPHA:324942,Group of disorders,Category,Pyogenic autoinflammatory syndrome of childhood, +GARD:0021460,Orphanet,ORPHA:324950,Group of disorders,Category,Granulomatous autoinflammatory syndrome of childhood, +GARD:0021461,Orphanet,ORPHA:324953,Group of disorders,Category,Unclassified autoinflammatory syndrome of childhood, +GARD:0021462,Orphanet,ORPHA:324960,Group of disorders,Category,Unexplained periodic fever syndrome of childhood, +GARD:0021463,Orphanet,ORPHA:325055,Group of disorders,Category,"46,XX disorder of gonadal development", +GARD:0021464,Orphanet,ORPHA:325061,Group of disorders,Category,"46,XX disorder of sex development induced by fetoplacental androgens excess","46,XX DSD induced by fetoplacental androgens excess" +GARD:0021465,Orphanet,ORPHA:325093,Group of disorders,Clinical group,"46,XX disorder of sex development induced by endogenous maternal-derived androgen","46,XX DSD induced by endogenous maternal-derived androgen" +GARD:0021466,Orphanet,ORPHA:325099,Group of disorders,Clinical group,"46,XX disorder of sex development induced by exogenous maternal-derived androgen","46,XX DSD induced by exogenous maternal-derived androgen" +GARD:0021467,Orphanet,ORPHA:325109,Group of disorders,Category,"Syndrome with 46,XX disorder of sex development","Syndrome with 46,XX DSD" +GARD:0021468,Orphanet,ORPHA:325118,Group of disorders,Category,"46,XY disorder of gonadal development", +GARD:0021469,Orphanet,ORPHA:325345,Disorder,Disease,"46,XY ovotesticular disorder of sex development","46,XY ovotesticular DSD" +GARD:0021470,Orphanet,ORPHA:325351,Group of disorders,Category,"46,XY disorder of sex development of endocrine origin","46,XY DSD of endocrine origin" +GARD:0021471,Orphanet,ORPHA:325357,Group of disorders,Category,"46,XY disorder of sex development due to impaired androgen production","46,XY DSD due to impaired androgen production" +GARD:0021472,Orphanet,ORPHA:325511,Group of disorders,Category,"46,XY disorder of sex development due to a cholesterol synthesis defect","46,XY DSD due to a cholesterol synthesis defect" +GARD:0021473,Orphanet,ORPHA:325524,Subtype of disorder,Clinical subtype,Classic congenital lipoid adrenal hyperplasia due to STAR deficency,Classic CLAH +GARD:0021474,Orphanet,ORPHA:325529,Subtype of disorder,Clinical subtype,Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency, +GARD:0021475,Orphanet,ORPHA:325537,Group of disorders,Category,"46,XY disorder of sex development induced by maternal exposure to endocrine disruptors","46,XY DSD induced by maternal-exposure to endocrine disruptors" +GARD:0021476,Orphanet,ORPHA:325546,Group of disorders,Category,Sex chromosome disorder of sex development,Sex chromosome DSD +GARD:0021477,Orphanet,ORPHA:325620,Group of disorders,Category,Disorder of sex development of gynecological interest,DSD of gynecological interest +GARD:0021478,Orphanet,ORPHA:325632,Group of disorders,Category,"46,XY disorder of sex development of gynecological interest","46,XY DSD of gynecological interest" +GARD:0021479,Orphanet,ORPHA:325638,Group of disorders,Category,Syndrome with disorder of sex development of gynecological interest,Syndrome with DSD of gynecological interest +GARD:0021480,Orphanet,ORPHA:325665,Group of disorders,Category,Genetic disorder of sex development of gynecological interest,Genetic DSD of gynecological interest +GARD:0021481,Orphanet,ORPHA:325690,Group of disorders,Category,Genetic disorder of sex development,Genetic DSD +GARD:0021482,Orphanet,ORPHA:325697,Group of disorders,Category,"Genetic 46,XX disorder of sex development","Genetic 46,XX DSD" +GARD:0021483,Orphanet,ORPHA:325706,Group of disorders,Category,"Genetic 46,XY disorder of sex development","Genetic 46,XY DSD" +GARD:0021484,Orphanet,ORPHA:325713,Group of disorders,Category,"Genetic 46,XY disorder of sex development of endocrine origin","Genetic 46,XY DSD of endocrine origin" +GARD:0021485,Orphanet,ORPHA:329217,Disorder,Disease,Cerebral sinovenous thrombosis,CSVT +GARD:0021486,Orphanet,ORPHA:329249,Subtype of disorder,Etiological subtype,Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, +GARD:0021487,Orphanet,ORPHA:329319,Disorder,Disease,Thrombocythemia with distal limb defects,Familial thrombocytosis with transverse limb defect|Hereditary thrombocytosis with transverse limb defect +GARD:0021488,Orphanet,ORPHA:329324,Disorder,Disease,Inverse Klippel-Trénaunay syndrome,Cutaneous hemangioma with muscle or bone atrophy +GARD:0021489,Orphanet,ORPHA:329329,Disorder,Malformation syndrome,Autosomal recessive frontotemporal pachygyria, +GARD:0021490,Orphanet,ORPHA:329469,Subtype of disorder,Clinical subtype,Acute megakaryoblastic leukemia without Down syndrome,Non-DS-AMKL +GARD:0021491,Orphanet,ORPHA:329475,Disorder,Disease,Spastic paraplegia-Paget disease of bone syndrome, +GARD:0021492,Orphanet,ORPHA:329478,Disorder,Disease,Adult-onset distal myopathy due to VCP mutation, +GARD:0021493,Orphanet,ORPHA:329813,Disorder,Malformation syndrome,Mosaic genome-wide paternal uniparental disomy,Androgenetic/biparental mosaicism|Genome-wide paternal uniparental disomy mosaicism|Mosaic genome-wide paternal UPD +GARD:0021494,Orphanet,ORPHA:329874,Disorder,Disease,Idiopathic giant cell myocarditis,IGCM +GARD:0021495,Orphanet,ORPHA:329883,Disorder,Disease,Non-hypoproteinemic hypertrophic gastropathy,Hypertrophic gastropathy without hypoproteinemia +GARD:0021496,Orphanet,ORPHA:329888,Group of disorders,Category,Juvenile idiopathic inflammatory myopathy,JIIM +GARD:0021497,Orphanet,ORPHA:329894,Disorder,Disease,Juvenile overlap myositis, +GARD:0021498,Orphanet,ORPHA:329942,Disorder,Disease,Transient neonatal multiple acyl-CoA dehydrogenase deficiency,Transient neonatal MAD deficiency|Transient neonatal MADD|Transient neonatal glutaric acidemia type 2|Transient neonatal glutaric aciduria type 2 +GARD:0021499,Orphanet,ORPHA:329967,Disorder,Disease,Intermittent hydrarthrosis, +GARD:0021500,Orphanet,ORPHA:329977,Subtype of disorder,Clinical subtype,Classic neuroendocrine tumor of appendix,Classic appendiceal neuroendocrine tumor|Classic appendix neuroendocrine tumor +GARD:0021501,Orphanet,ORPHA:330001,Disorder,Disease,Wild type ATTR amyloidosis,ATTRwt amyloidosis|ATTRwt-related amyloidosis|Senile systemic amyloidosis|Wild type ATTR-related amyloidosis +GARD:0021502,Orphanet,ORPHA:330012,Disorder,Particular clinical situation in a disease or syndrome,High altitude pulmonary edema, +GARD:0021503,Orphanet,ORPHA:330015,Disorder,Disease,Lead poisoning,Lead intoxication|Plumbism|Saturnism +GARD:0021504,Orphanet,ORPHA:330029,Disorder,Disease,Hypotrichosis-deafness syndrome,Hypotrichosis-hearing loss syndrome +GARD:0021505,Orphanet,ORPHA:330032,Disorder,Disease,Hemoglobin Lepore-beta-thalassemia syndrome,HbLepore-beta-thalassemia syndrome|Lepore-beta-thalassemia syndrome +GARD:0021506,Orphanet,ORPHA:330064,Disorder,Disease,Chronic actinic dermatitis,Actinic reticuloid|Chronic photosensitivity dermatitis +GARD:0021507,Orphanet,ORPHA:330206,Group of disorders,Category,Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability,Genetic MCA|Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism) +GARD:0021508,Orphanet,ORPHA:331184,Group of disorders,Category,Constitutional neutropenia with extra-hematopoietic manifestations, +GARD:0021509,Orphanet,ORPHA:331193,Group of disorders,Category,Other immunodeficiency syndromes due to defects in innate immunity, +GARD:0021510,Orphanet,ORPHA:331217,Group of disorders,Category,Syndrome with combined immunodeficiency, +GARD:0021511,Orphanet,ORPHA:331220,Group of disorders,Category,Immunodeficiency due to absence of thymus, +GARD:0021512,Orphanet,ORPHA:331232,Group of disorders,Category,Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells, +GARD:0021513,Orphanet,ORPHA:331240,Group of disorders,Category,Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells, +GARD:0021514,Orphanet,ORPHA:331244,Group of disorders,Category,Other immunodeficiency syndrome with predominantly antibody defects, +GARD:0021515,Orphanet,ORPHA:331249,Group of disorders,Category,Immunodeficiency syndrome with hypopigmentation, +GARD:0021516,Orphanet,ORPHA:352301,Group of disorders,Category,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis", +GARD:0021517,Orphanet,ORPHA:352306,Group of disorders,Category,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement", +GARD:0021518,Orphanet,ORPHA:352309,Group of disorders,Category,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement", +GARD:0021519,Orphanet,ORPHA:352312,Group of disorders,Category,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement", +GARD:0021520,Orphanet,ORPHA:352456,Group of disorders,Category,Mitochondrial DNA maintenance syndrome,mtDNA maintenance syndrome +GARD:0021521,Orphanet,ORPHA:352530,Disorder,Disease,Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,Autosomal recessive intellectual disability due to TRAPPC9 deficiency +GARD:0021522,Orphanet,ORPHA:352587,Disorder,Disease,Focal epilepsy-intellectual disability-cerebro-cerebellar malformation,Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome +GARD:0021523,Orphanet,ORPHA:352629,Disorder,Disease,16q24.1 microdeletion syndrome,Del(16)(q24.1)|Monosomy 16q24.1 +GARD:0021524,Orphanet,ORPHA:352636,Disorder,Disease,Phalangeal microgeodic syndrome,Phalangeal osteolysis +GARD:0021525,Orphanet,ORPHA:352641,Disorder,Disease,Autosomal recessive cerebellar ataxia with late-onset spasticity,Autosomal recessive cerebellar ataxia due to GBA2 deficiency +GARD:0021526,Orphanet,ORPHA:352665,Subtype of disorder,Etiological subtype,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,9q21.3 microdeletion syndrome|Del(9)(q21.3) +GARD:0021527,Orphanet,ORPHA:352723,Disorder,Disease,Attenuated Chédiak-Higashi syndrome,Atypical Chédiak-Higashi syndrome +GARD:0021528,Orphanet,ORPHA:352728,Group of disorders,Category,Disorder of melanin metabolism, +GARD:0021529,Orphanet,ORPHA:352734,Subtype of disorder,Clinical subtype,Minimal pigment oculocutaneous albinism type 1,MP OCA type 1|OCA1-MP +GARD:0021530,Orphanet,ORPHA:353334,Disorder,Morphological anomaly,Congenital retinal arteriovenous communication,Congenital arteriovenous anastomoses of the retina|Congenital arteriovenous communication of the retina|Congenital retinal arteriovenous anastomoses +GARD:0021531,Orphanet,ORPHA:353344,Disorder,Disease,Idiopathic macular telangiectasia type 1,Aneurysmal telangiectasia|Visible and exudative idiopathic juxtafoveolar retinal telangiectasis +GARD:0021532,Orphanet,ORPHA:353351,Disorder,Disease,Idiopathic macular telangiectasia type 3,Occlusive idiopathic juxtafoveolar retinal telangiectasis +GARD:0021533,Orphanet,ORPHA:353356,Disorder,Disease,Vasoproliferative tumor of the retina,Retinal vasoproliferative tumor|VPTR|Vasoproliferative tumor of the ocular fundus +GARD:0021534,Orphanet,ORPHA:356947,Disorder,Malformation syndrome,3q26q27 microdeletion syndrome,Del(3)(q26q27)|Monosomy 3q26q27 +GARD:0021535,Orphanet,ORPHA:357107,Subtype of disorder,Clinical subtype,Arterial thoracic outlet syndrome,ATOS|Arterial TOS|Arterial cervical rib syndrome|Arterial costoclavicular syndrome|Arterial hyperabduction syndrome|Arterial scalenus anticus syndrome|Arterial thoracic outlet compression syndrome +GARD:0021536,Orphanet,ORPHA:357131,Subtype of disorder,Clinical subtype,Venous thoracic outlet syndrome,Effort subclavian vein thrombosis|Paget-Schrotter disease|VTOS|Venous TOS|Venous cervical rib syndrome|Venous costoclavicular syndrome|Venous hyperabduction syndrome|Venous scalenus anticus syndrome|Venous thoracic outlet compression syndrome +GARD:0021537,Orphanet,ORPHA:357220,Disorder,Disease,Primary essential cutis verticis gyrata, +GARD:0021538,Orphanet,ORPHA:357225,Disorder,Disease,Primary non-essential cutis verticis gyrata, +GARD:0021539,Orphanet,ORPHA:357502,Group of disorders,Clinical group,Idiopathic nephrotic syndrome, +GARD:0021540,Orphanet,ORPHA:357506,Group of disorders,Category,Genetic non-syndromic renal or urinary tract malformation, +GARD:0021541,Orphanet,ORPHA:363189,Group of disorders,Category,Congenital anomaly of the great veins, +GARD:0021542,Orphanet,ORPHA:363203,Group of disorders,Category,Ring chromosome, +GARD:0021543,Orphanet,ORPHA:363245,Group of disorders,Category,Genetic progeroid syndrome, +GARD:0021544,Orphanet,ORPHA:363250,Group of disorders,Category,Ciliopathy, +GARD:0021545,Orphanet,ORPHA:363294,Group of disorders,Category,Genetic syndromic Pierre Robin syndrome, +GARD:0021546,Orphanet,ORPHA:363300,Group of disorders,Category,Genetic intractable diarrhea of infancy, +GARD:0021547,Orphanet,ORPHA:363306,Group of disorders,Category,Genetic intestinal disease due to fat malabsorption, +GARD:0021548,Orphanet,ORPHA:363314,Group of disorders,Category,Genetic intestinal polyposis,Familial intestinal polyposis +GARD:0021549,Orphanet,ORPHA:363472,Group of disorders,Category,Tumor of testis and paratestis,Testicular and paratesticular tumor +GARD:0021550,Orphanet,ORPHA:363478,Disorder,Disease,Paratesticular adenocarcinoma,Adenocarcinoma of the paratestis +GARD:0021551,Orphanet,ORPHA:363489,Disorder,Disease,Sex cord-stromal tumor of testis,Testicular sex cord-stromal tumor +GARD:0021552,Orphanet,ORPHA:363549,Disorder,Disease,Acute encephalopathy with biphasic seizures and late reduced diffusion,AESD|AIEF|Acute infantile encephalopathy predominantly affecting the frontal lobes +GARD:0021553,Orphanet,ORPHA:363567,Group of disorders,Clinical group,Acute encephalopathy with inflammation-mediated status epilepticus, +GARD:0021554,Orphanet,ORPHA:363582,Group of disorders,Category,Gonadal germ cell tumor, +GARD:0021555,Orphanet,ORPHA:363618,Disorder,Disease,LMNA-related cardiocutaneous progeria syndrome,LCPS +GARD:0021556,Orphanet,ORPHA:363659,Disorder,Malformation syndrome,20q11.2 microduplication syndrome,Dup(20)(q11.2) +GARD:0021557,Orphanet,ORPHA:363680,Disorder,Malformation syndrome,2p13.2 microdeletion syndrome,Del(2)(p13.2) +GARD:0021558,Orphanet,ORPHA:363746,Disorder,Disease,Balint syndrome,Balint-Holmes syndrome|Optic ataxia-gaze apraxia-simultanagnosia syndrome +GARD:0021559,Orphanet,ORPHA:363965,Subtype of disorder,Etiological subtype,Koolen-De Vries syndrome due to a point mutation, +GARD:0021560,Orphanet,ORPHA:363969,Disorder,Disease,Autosomal recessive cerebral atrophy, +GARD:0021561,Orphanet,ORPHA:364013,Subtype of disorder,Clinical subtype,Immune hydrops fetalis,IHF|Immune HF|Immune fetal edema|Immune fetal hydrops +GARD:0021562,Orphanet,ORPHA:364033,Disorder,Disease,Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood,Systemic EBV+ T-cell LPD of childhood|Systemic EBV-positive T-cell lymphoproliferative disease of childhood +GARD:0021563,Orphanet,ORPHA:364039,Disorder,Disease,Hydroa vacciniforme-like lymphoma,Angiocentric cutaneous T-cell lymphoma of childhood|HVLL|Hydroa-like cutaneous T-cell lymphoma +GARD:0021564,Orphanet,ORPHA:364043,Disorder,Disease,ALK-positive large B-cell lymphoma,ALK+ LBCL|ALK+ large B-cell lymphoma +GARD:0021565,Orphanet,ORPHA:364055,Disorder,Disease,Severe early-childhood-onset retinal dystrophy,EOSRD|Early-onset severe retinal dystrophy|SECORD +GARD:0021566,Orphanet,ORPHA:364198,Disorder,Morphological anomaly,Bipartite talus, +GARD:0021567,Orphanet,ORPHA:364526,Group of disorders,Category,Primary bone dysplasia,Primary osteodysplasia|Primary skeletal dysplasia +GARD:0021568,Orphanet,ORPHA:364531,Group of disorders,Category,"Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments","Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments|Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" +GARD:0021569,Orphanet,ORPHA:364536,Group of disorders,Category,Primary bone dysplasia with micromelia,Primary osteodysplasia with micromelia|Primary skeletal dysplasia with micromelia +GARD:0021570,Orphanet,ORPHA:364541,Group of disorders,Clinical group,Otopalatodigital syndrome spectrum disorder,OPD spectrum disorder|OPSD +GARD:0021571,Orphanet,ORPHA:364559,Group of disorders,Category,Dysostosis, +GARD:0021572,Orphanet,ORPHA:364568,Group of disorders,Category,Dysostosis with limb anomaly as a major feature, +GARD:0021573,Orphanet,ORPHA:364571,Group of disorders,Category,Dysostosis with limb and face anomalies as a major feature, +GARD:0021574,Orphanet,ORPHA:364574,Group of disorders,Clinical group,Acrofacial dysostosis, +GARD:0021575,Orphanet,ORPHA:364803,Group of disorders,Category,Rare bone disease related to a common gene or pathway defect, +GARD:0021576,Orphanet,ORPHA:364817,Group of disorders,Category,Aggrecan-related bone disorder, +GARD:0021577,Orphanet,ORPHA:364820,Group of disorders,Category,TRPV4-related bone disorder, +GARD:0021578,Orphanet,ORPHA:365563,Group of disorders,Clinical group,Primary short bowel syndrome, +GARD:0021579,Orphanet,ORPHA:369847,Disorder,Disease,Intellectual disability-hyperkinetic movement-truncal ataxia syndrome, +GARD:0021580,Orphanet,ORPHA:369873,Subtype of disorder,Etiological subtype,Obesity due to SIM1 deficiency, +GARD:0021581,Orphanet,ORPHA:369881,Disorder,Malformation syndrome,2p21 microdeletion syndrome without cystinuria,Del(2)(p21) without cystinuria +GARD:0021582,Orphanet,ORPHA:369886,Group of disorders,Clinical group,Homozygous 2p21 microdeletion syndrome,2p21 contiguous gene deletion syndrome +GARD:0021583,Orphanet,ORPHA:369950,Disorder,Disease,Intellectual disability-seizures-macrocephaly-obesity syndrome,Der(8)t(8;12) +GARD:0021584,Orphanet,ORPHA:369979,Disorder,Malformation syndrome,Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome, +GARD:0021585,Orphanet,ORPHA:370010,Disorder,Malformation syndrome,Intellectual disability-facial dysmorphism-hand anomalies syndrome, +GARD:0021586,Orphanet,ORPHA:370015,Disorder,Disease,"Spondyloepimetaphyseal dysplasia, Isidor type", +GARD:0021587,Orphanet,ORPHA:370019,Disorder,Disease,"Spondylometaphyseal dysplasia, Czarny-Ratajczak type", +GARD:0021588,Orphanet,ORPHA:370026,Disorder,Disease,Acute myeloid leukemia with t(8;16)(p11;p13) translocation,AML with t(8;16)(p11;p13) translocation +GARD:0021589,Orphanet,ORPHA:370034,Subtype of disorder,Clinical subtype,Familial syringomyelia, +GARD:0021590,Orphanet,ORPHA:370039,Disorder,Disease,Angora hair nevus,Schauder syndrome +GARD:0021591,Orphanet,ORPHA:370046,Disorder,Disease,Didymosis aplasticosebacea,Aplasia cutis congenita-nevus sebaceus syndrome +GARD:0021592,Orphanet,ORPHA:370052,Disorder,Disease,SCALP syndrome,Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome|Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome +GARD:0021593,Orphanet,ORPHA:370059,Disorder,Disease,NEVADA syndrome,Nevus epidermicus verrucosus with angiodysplasia and aneurysms +GARD:0021594,Orphanet,ORPHA:370068,Group of disorders,Clinical group,Fetal anticonvulsant syndrome,FACS|Fetal AEDS|Fetal antiepileptic drug syndrome +GARD:0021595,Orphanet,ORPHA:370076,Disorder,Malformation syndrome,Fetal carbamazepine syndrome, +GARD:0021596,Orphanet,ORPHA:370106,Group of disorders,Category,Rare disorder with dystonia and other neurologic or systemic manifestation, +GARD:0021597,Orphanet,ORPHA:370109,Disorder,Disease,Ataxia-telangiectasia variant,v-AT +GARD:0021598,Orphanet,ORPHA:370127,Disorder,Disease,Medich giant platelet syndrome,Medich macrothrombocytopenia +GARD:0021599,Orphanet,ORPHA:370930,Disorder,Disease,XYLT1-CDG, +GARD:0021600,Orphanet,ORPHA:371007,Disorder,Disease,Congenital muscular dystrophy with hyperlaxity,CMDH +GARD:0021601,Orphanet,ORPHA:371024,Group of disorders,Category,Qualitative or quantitative defects of alpha-dystroglycan,Alpha-dystroglycanopathy|Dystroglycanopathy +GARD:0021602,Orphanet,ORPHA:371040,Group of disorders,Category,Primary qualitative or quantitative defects of alpha-dystroglycan,Primary alpha-dystroglycanopathy|Primary dystroglycanopathy +GARD:0021603,Orphanet,ORPHA:371047,Group of disorders,Category,Congenital disorder of glycosylation with neurological involvement,CDG with neurological involvement +GARD:0021604,Orphanet,ORPHA:371071,Group of disorders,Category,Congenital disorder of glycosylation with epilepsy as a major feature,CDG with epilepsy as a major feature +GARD:0021605,Orphanet,ORPHA:371157,Group of disorders,Category,Congenital disorder of glycosylation with hepatic involvement,CDG with hepatic involvement +GARD:0021606,Orphanet,ORPHA:371176,Group of disorders,Category,Congenital disorder of glycosylation with dilated cardiomyopathy,CDG with dilated cardiomyopathy +GARD:0021607,Orphanet,ORPHA:371183,Group of disorders,Category,Congenital disorder of glycosylation with cardiac malformation as a major feature,CDG with cardiac malformation as a major feature +GARD:0021608,Orphanet,ORPHA:371188,Group of disorders,Category,Congenital disorder of glycosylation with intestinal involvement,CDG with intestinal involvement +GARD:0021609,Orphanet,ORPHA:371195,Group of disorders,Category,Congenital disorder of glycosylation-related bone disorder,CDG-related bone disorder +GARD:0021610,Orphanet,ORPHA:371200,Group of disorders,Category,Congenital disorder of glycosylation with skin involvement,CDG with skin involvement +GARD:0021611,Orphanet,ORPHA:371207,Group of disorders,Category,Congenital disorder of glycosylation with nephropathy as a major feature,CDG with nephropathy as a major feature +GARD:0021612,Orphanet,ORPHA:371212,Group of disorders,Category,Congenital disorder of glycosylation with deafness as a major feature,CDG with deafness as a major feature|CDG with hearing loss as a major feature|Congenital disorder of glycosylation with hearing loss as a major feature +GARD:0021613,Orphanet,ORPHA:371433,Group of disorders,Category,Genetic periodic paralysis, +GARD:0021614,Orphanet,ORPHA:371436,Group of disorders,Category,Genetic neurovascular malformation, +GARD:0021615,Orphanet,ORPHA:371442,Group of disorders,Category,Sphingolipidosis with epilepsy, +GARD:0021616,Orphanet,ORPHA:371445,Group of disorders,Category,Genetic syndromic esophageal malformation, +GARD:0021617,Orphanet,ORPHA:371861,Group of disorders,Category,Genetic hyperaldosteronism, +GARD:0021618,Orphanet,ORPHA:376724,Group of disorders,Category,Generalized isolated dystonia, +GARD:0021619,Orphanet,ORPHA:391316,Disorder,Disease,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression, +GARD:0021620,Orphanet,ORPHA:391343,Disorder,Disease,Fatal post-viral neurodegenerative disorder, +GARD:0021621,Orphanet,ORPHA:391366,Disorder,Disease,Growth retardation-mild developmental delay-chronic hepatitis syndrome, +GARD:0021622,Orphanet,ORPHA:391381,Group of disorders,Category,Disorder of asparagine metabolism, +GARD:0021623,Orphanet,ORPHA:391490,Subtype of disorder,Clinical subtype,Adult-onset myasthenia gravis,Adult-onset acquired myasthenia|Adult-onset autoimmune myasthenia gravis +GARD:0021624,Orphanet,ORPHA:391497,Subtype of disorder,Clinical subtype,Juvenile myasthenia gravis,Childhood myasthenia gravis|Juvenile acquired myasthenia|Juvenile autoimmune myasthenia gravis +GARD:0021625,Orphanet,ORPHA:391504,Subtype of disorder,Clinical subtype,Transient neonatal myasthenia gravis,NMG|Neonatal myasthenia gravis|Transient neonatal acquired myasthenia|Transient neonatal autoimmune myasthenia gravis +GARD:0021626,Orphanet,ORPHA:391651,Disorder,Disease,Glomus tumor, +GARD:0021627,Orphanet,ORPHA:391655,Disorder,Particular clinical situation in a disease or syndrome,Off-periods in Parkinson disease not responding to oral treatment, +GARD:0021628,Orphanet,ORPHA:391711,Group of disorders,Clinical group,Persistent combined dystonia, +GARD:0021629,Orphanet,ORPHA:391723,Disorder,Disease,Mucinous adenocarcinoma of the appendix,Appendiceal mucinous adenocarcinoma +GARD:0021630,Orphanet,ORPHA:391799,Group of disorders,Category,Rare genetic dystonia,Rare genetic dystonic disorder +GARD:0021631,Orphanet,ORPHA:397587,Disorder,Disease,Deep dermatophytosis,Disseminated granulomatous dermatophytosis +GARD:0021632,Orphanet,ORPHA:397606,Disorder,Disease,PrP systemic amyloidosis,Chronic diarrhea with HSAN|Chronic diarrhea with hereditary sensory and autonomic neuropathy|Prion protein systemic amyloidosis +GARD:0021633,Orphanet,ORPHA:397695,Disorder,Disease,3q27.3 microdeletion syndrome,Del(3)(q27.3) +GARD:0021634,Orphanet,ORPHA:397750,Disorder,Disease,Periodic paralysis with later-onset distal motor neuropathy, +GARD:0021635,Orphanet,ORPHA:397755,Disorder,Disease,Periodic paralysis with transient compartment-like syndrome, +GARD:0021636,Orphanet,ORPHA:397802,Group of disorders,Clinical group,T+ B+ severe combined immunodeficiency, +GARD:0021637,Orphanet,ORPHA:397922,Disorder,Disease,Ferro-cerebro-cutaneous syndrome,Cerebro-cutaneous syndrome with iron overload +GARD:0021638,Orphanet,ORPHA:398053,Disorder,Disease,Adenocarcinoma of the penis,Penile adenocarcinoma +GARD:0021639,Orphanet,ORPHA:398058,Disorder,Disease,Squamous cell carcinoma of the penis,Penile squamous cell carcinoma +GARD:0021640,Orphanet,ORPHA:398063,Disorder,Disease,Refractory celiac disease,Refractory CD|Refractory sprue +GARD:0021641,Orphanet,ORPHA:398073,Group of disorders,Clinical group,Prader-Willi-like syndrome,PWS-like +GARD:0021642,Orphanet,ORPHA:398079,Disorder,Disease,SIM1-related Prader-Willi-like syndrome,SIM1-related PWLS +GARD:0021643,Orphanet,ORPHA:398091,Group of disorders,Category,Secondary neonatal autoimmune disease,Transplacentally acquired neonatal autoimmune disease +GARD:0021644,Orphanet,ORPHA:398097,Disorder,Disease,Neonatal antiphospholipid syndrome,Neonatal Hughes syndrome|Neonatal antiphospholipid antibody syndrome +GARD:0021645,Orphanet,ORPHA:398109,Disorder,Disease,Neonatal autoimmune hemolytic anemia,Neonatal AHA|Neonatal AIHA +GARD:0021646,Orphanet,ORPHA:398117,Disorder,Disease,Neonatal dermatomyositis,Neonatal DM +GARD:0021647,Orphanet,ORPHA:398124,Disorder,Disease,Neonatal lupus erythematosus, +GARD:0021648,Orphanet,ORPHA:398127,Disorder,Disease,Neonatal scleroderma, +GARD:0021649,Orphanet,ORPHA:398147,Disorder,Disease,Persistent idiopathic facial pain,AFP|Atypical facial pain|PIFP +GARD:0021650,Orphanet,ORPHA:398940,Group of disorders,Category,Malignant non-epithelial tumor of ovary,Non-epithelial cancer of ovary|Ovarian malignant non-epithelial tumor|Ovarian non-epithelial cancer +GARD:0021651,Orphanet,ORPHA:398961,Disorder,Disease,Mucinous adenocarcinoma of ovary,Ovarian mucinous adenocarcinoma +GARD:0021652,Orphanet,ORPHA:398971,Disorder,Disease,Clear cell adenocarcinoma of the ovary,Ovarian clear cell adenocarcinoma +GARD:0021653,Orphanet,ORPHA:398980,Disorder,Disease,Primary peritoneal serous/papillary carcinoma,PPSPC +GARD:0021654,Orphanet,ORPHA:398987,Disorder,Disease,Malignant teratoma of ovary,Immature teratoma of ovary|Ovarian immature teratoma|Ovarian malignant teratoma +GARD:0021655,Orphanet,ORPHA:399081,Disorder,Disease,KLHL9-related early-onset distal myopathy, +GARD:0021656,Orphanet,ORPHA:399103,Disorder,Disease,Distal nebulin myopathy,Nebulin-related early-onset distal myopathy +GARD:0021657,Orphanet,ORPHA:399158,Group of disorders,Category,Osteonecrosis,Bone necrosis +GARD:0021658,Orphanet,ORPHA:399164,Group of disorders,Category,Avascular necrosis,AVN +GARD:0021659,Orphanet,ORPHA:399169,Group of disorders,Category,Secondary avascular necrosis,Secondary AVN +GARD:0021660,Orphanet,ORPHA:399175,Disorder,Disease,Traumatic avascular necrosis,Traumatic AVN +GARD:0021661,Orphanet,ORPHA:399180,Disorder,Disease,Secondary non-traumatic avascular necrosis,Secondary non-traumatic AVN|Secondary non-traumatic osteonecrosis +GARD:0021662,Orphanet,ORPHA:399185,Group of disorders,Category,Rare hereditary disease with avascular necrosis, +GARD:0021663,Orphanet,ORPHA:399293,Disorder,Disease,Osteonecrosis of the jaw, +GARD:0021664,Orphanet,ORPHA:399302,Group of disorders,Clinical group,Primary avascular necrosis,Primary AVN +GARD:0021665,Orphanet,ORPHA:399307,Disorder,Disease,Idiopathic avascular necrosis,Idiopathic AVN +GARD:0021666,Orphanet,ORPHA:399329,Disorder,Disease,Epiphysiolysis of the hip,Epiphysiolysis of the upper femur|Femoral head epiphysiolysis|SCFE|SUFE|Slipped capital femoral epiphysis|Slipped upper femoral epiphysis +GARD:0021667,Orphanet,ORPHA:399380,Group of disorders,Category,Osteonecrosis of genetic origin,Bone necrosis of genetic origin +GARD:0021668,Orphanet,ORPHA:399388,Group of disorders,Category,Avascular necrosis of genetic origin, +GARD:0021669,Orphanet,ORPHA:399391,Group of disorders,Category,Osteochondrosis of genetic origin, +GARD:0021670,Orphanet,ORPHA:399572,Group of disorders,Category,Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder,Rare male infertility due to gonadotropic axis disorder|Rare male infertility due to hypothalamic-pituitary-testicular axis disorder +GARD:0021671,Orphanet,ORPHA:399584,Group of disorders,Category,Rare male infertility due to adrenal disorder, +GARD:0021672,Orphanet,ORPHA:399685,Group of disorders,Category,Rare male infertility due to testicular endocrine disorder, +GARD:0021673,Orphanet,ORPHA:399764,Group of disorders,Category,Male infertility due to gonadal dysgenesis or sperm disorder,Male infertility due to testicular dysgenesis or sperm disorder +GARD:0021674,Orphanet,ORPHA:399771,Group of disorders,Category,Male infertility due to sperm disorder, +GARD:0021675,Orphanet,ORPHA:399775,Group of disorders,Category,Male infertility with spermatogenesis disorder, +GARD:0021676,Orphanet,ORPHA:399813,Group of disorders,Category,Male infertility due to sperm motility disorder,Male infertility due to asthenozoospermia +GARD:0021677,Orphanet,ORPHA:399824,Group of disorders,Category,Rare disorder with obstructive azoospermia,Rare disorder due to impaired sperm transport +GARD:0021678,Orphanet,ORPHA:399831,Group of disorders,Category,Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder,Rare female infertility due to gonadotropic axis disorder|Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder +GARD:0021679,Orphanet,ORPHA:399839,Group of disorders,Category,Rare female infertility due to a congenital hypogonadotropic hypogonadism, +GARD:0021680,Orphanet,ORPHA:399846,Group of disorders,Category,Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism, +GARD:0021681,Orphanet,ORPHA:399849,Group of disorders,Category,Rare female infertility due to an adrenal disorder, +GARD:0021682,Orphanet,ORPHA:399853,Group of disorders,Category,Rare female infertility due to an anomaly of ovarian function, +GARD:0021683,Orphanet,ORPHA:399877,Group of disorders,Category,Rare female infertility due to gonadal dysgenesis,Rare female infertility due to ovarian dysgenesis +GARD:0021684,Orphanet,ORPHA:399882,Group of disorders,Category,Rare female infertility due to an implantation defect, +GARD:0021685,Orphanet,ORPHA:399980,Group of disorders,Category,Rare genetic male infertility, +GARD:0021686,Orphanet,ORPHA:399983,Group of disorders,Category,Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin,Rare male infertility due to gonadotropic axis disorder of genetic origin|Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin +GARD:0021687,Orphanet,ORPHA:399994,Group of disorders,Category,Rare male infertility due to adrenal disorder of genetic origin, +GARD:0021688,Orphanet,ORPHA:399998,Group of disorders,Category,Male infertility due to obstructive azoospermia of genetic origin,Male infertility due to impaired sperm transport of genetic origin +GARD:0021689,Orphanet,ORPHA:400003,Group of disorders,Category,Rare genetic disorder with obstructive azoospermia,Rare genetic disorder due to impaired sperm transport +GARD:0021690,Orphanet,ORPHA:400008,Group of disorders,Category,Rare genetic female infertility, +GARD:0021691,Orphanet,ORPHA:400011,Group of disorders,Category,Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin,Rare female infertility due to gonadotropic axis disorder of genetic origin|Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin +GARD:0021692,Orphanet,ORPHA:400018,Group of disorders,Category,Rare female infertility due to adrenal disorder of genetic origin, +GARD:0021693,Orphanet,ORPHA:400022,Group of disorders,Category,Rare female infertility due to an anomaly of ovarian function of genetic origin, +GARD:0021694,Orphanet,ORPHA:400025,Group of disorders,Category,Female infertility due to an implantation defect of genetic origin, +GARD:0021695,Orphanet,ORPHA:401795,Disorder,Disease,Autosomal recessive spastic paraplegia type 59,SPG59 +GARD:0021696,Orphanet,ORPHA:401800,Disorder,Disease,Autosomal recessive spastic paraplegia type 60,SPG60 +GARD:0021697,Orphanet,ORPHA:401815,Disorder,Disease,Autosomal recessive spastic paraplegia type 66,SPG66 +GARD:0021698,Orphanet,ORPHA:401820,Disorder,Disease,Autosomal recessive spastic paraplegia type 67,SPG67 +GARD:0021699,Orphanet,ORPHA:401830,Disorder,Disease,Autosomal recessive spastic paraplegia type 69,SPG69 +GARD:0021700,Orphanet,ORPHA:401835,Disorder,Disease,Autosomal recessive spastic paraplegia type 70,SPG70 +GARD:0021701,Orphanet,ORPHA:401840,Disorder,Disease,Autosomal recessive spastic paraplegia type 71,SPG71 +GARD:0021702,Orphanet,ORPHA:401901,Disorder,Disease,Huntington disease-like syndrome due to C9ORF72 expansions,C9ORF72-related Huntington disease phenocopy|C9ORF72-related Huntington disease-like syndrome|Huntington disease phenocopy due to C9ORF72 expansions +GARD:0021703,Orphanet,ORPHA:401911,Subtype of disorder,Clinical subtype,AXIN2-related attenuated familial adenomatous polyposis,AXIN2-related AFAP|AXIN2-related attenuated FAP|AXIN2-related attenuated familial polyposis coli +GARD:0021704,Orphanet,ORPHA:401920,Disorder,Disease,Fibrolamellar hepatocellular carcinoma,FHCC|Fibrolamellar hepatocarcinoma +GARD:0021705,Orphanet,ORPHA:401923,Disorder,Malformation syndrome,9q31.1q31.3 microdeletion syndrome,Del(9)(q31.1q31.3)|Monosomy 9q31.1q31.3 +GARD:0021706,Orphanet,ORPHA:401935,Disorder,Malformation syndrome,14q24.1q24.3 microdeletion syndrome,Del(14)(q24.1q24.3)|Monosomy 14q24.1q24.3 +GARD:0021707,Orphanet,ORPHA:401959,Disorder,Malformation syndrome,Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome, +GARD:0021708,Orphanet,ORPHA:401993,Group of disorders,Clinical group,Cold-induced sweating syndrome-hyperthermia spectrum, +GARD:0021709,Orphanet,ORPHA:402007,Group of disorders,Clinical group,Lichen myxedematosus, +GARD:0021710,Orphanet,ORPHA:402014,Disorder,Disease,Acute myeloid leukemia with t(6;9)(p23;q34),AML with t(6;9)(p23;q34) +GARD:0021711,Orphanet,ORPHA:402017,Disorder,Disease,Acute myeloid leukemia with t(9;11)(p22;q23),AML with t(9;11)(p22;q23) +GARD:0021712,Orphanet,ORPHA:402023,Disorder,Disease,Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13),Megakaryoblastic AML with t(1;22)(p13;q13) +GARD:0021713,Orphanet,ORPHA:402026,Disorder,Disease,Acute myeloid leukemia with NPM1 somatic mutations,AML with NPM1 somatic mutations +GARD:0021714,Orphanet,ORPHA:402029,Group of disorders,Clinical group,Primary eosinophilic gastrointestinal disease,EGID +GARD:0021715,Orphanet,ORPHA:402035,Disorder,Disease,Eosinophilic colitis, +GARD:0021716,Orphanet,ORPHA:402823,Disorder,Disease,Hepatitis delta,HDV|Hepatitis D virus +GARD:0021717,Orphanet,ORPHA:404451,Disorder,Malformation syndrome,FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome, +GARD:0021718,Orphanet,ORPHA:404469,Group of disorders,Category,Rare female infertility due to oocyte maturation defect, +GARD:0021719,Orphanet,ORPHA:404481,Group of disorders,Clinical group,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome, +GARD:0021720,Orphanet,ORPHA:404507,Disorder,Disease,Chondromyxoid fibroma, +GARD:0021721,Orphanet,ORPHA:404511,Subtype of disorder,Histopathological subtype,Clear cell papillary renal cell carcinoma, +GARD:0021722,Orphanet,ORPHA:404514,Disorder,Disease,Acquired cystic disease-associated renal cell carcinoma, +GARD:0021723,Orphanet,ORPHA:404521,Disorder,Disease,Spinal muscular atrophy with respiratory distress type 2,Diaphragmatic spinal muscular atrophy type 2|SMARD2|Severe infantile axonal neuropathy with respiratory failure type 2|X-linked spinal muscular atrophy with respiratory distress +GARD:0021724,Orphanet,ORPHA:404538,Group of disorders,Category,X-linked distal hereditary motor neuropathy,X-linked dHMN|X-linked distal spinal muscular atrophy +GARD:0021725,Orphanet,ORPHA:404568,Group of disorders,Category,Dysostosis of genetic origin, +GARD:0021726,Orphanet,ORPHA:404571,Group of disorders,Category,Dysostosis of genetic origin with limb anomaly as a major feature, +GARD:0021727,Orphanet,ORPHA:404574,Group of disorders,Category,Genetic syndrome with limb reduction defects, +GARD:0021728,Orphanet,ORPHA:404577,Group of disorders,Category,Genetic syndrome with limb malformations as a major feature, +GARD:0021729,Orphanet,ORPHA:404580,Group of disorders,Clinical group,Polyarticular juvenile idiopathic arthritis,Juvenile polyarthritis|Juvenile polyarticular arthritis|Polyarticular JIA +GARD:0021730,Orphanet,ORPHA:404584,Group of disorders,Category,Rare genetic bone development disorder,Rare genetic skeletal development disorder +GARD:0021731,Orphanet,ORPHA:411501,Disorder,Morphological anomaly,Williams-Campbell syndrome, +GARD:0021732,Orphanet,ORPHA:411511,Subtype of disorder,Etiological subtype,Angelman syndrome due to a point mutation, +GARD:0021733,Orphanet,ORPHA:411515,Subtype of disorder,Etiological subtype,Angelman syndrome due to imprinting defect in 15q11-q13, +GARD:0021734,Orphanet,ORPHA:411527,Disorder,Particular clinical situation in a disease or syndrome,Central retinal vein occlusion,CRVO +GARD:0021735,Orphanet,ORPHA:411696,Disorder,Disease,Proton-pump inhibitor-responsive esophageal eosinophilia,PPI-REE|PPI-responsive esophageal eosinophilia|PPIRee +GARD:0021736,Orphanet,ORPHA:411777,Disorder,Disease,Generalized eruptive keratoacanthoma,GEKA|Generalized eruptive keratoacanthomas of Grzybowski|Grzybowski syndrome +GARD:0021737,Orphanet,ORPHA:412035,Disorder,Malformation syndrome,13q12.3 microdeletion syndrome,Del(13)(q12.3)|Monosomy 13q12.3 +GARD:0021738,Orphanet,ORPHA:412066,Disorder,Disease,PRKAR1B-related neurodegenerative dementia with intermediate filaments, +GARD:0021739,Orphanet,ORPHA:412217,Disorder,Disease,Dystonia-aphonia syndrome, +GARD:0021740,Orphanet,ORPHA:414726,Group of disorders,Category,Genetic facial cleft,Genetic craniofacial cleft +GARD:0021741,Orphanet,ORPHA:418945,Disorder,Disease,"Carcinoma of esophagus, salivary gland type","Esophageal carcinoma, salivary gland type" +GARD:0021742,Orphanet,ORPHA:418951,Disorder,Disease,Undifferentiated carcinoma of esophagus,Undifferentiated esophageal carcinoma +GARD:0021743,Orphanet,ORPHA:418959,Disorder,Disease,Squamous cell carcinoma of the stomach,Gastric squamous cell carcinoma +GARD:0021744,Orphanet,ORPHA:420259,Disorder,Disease,Secondary pulmonary alveolar proteinosis,Secondary PAP +GARD:0021745,Orphanet,ORPHA:420402,Disorder,Clinical syndrome,Semicircular canal dehiscence syndrome,SCD syndrome +GARD:0021746,Orphanet,ORPHA:420429,Subtype of disorder,Clinical subtype,"Glycogen storage disease due to acid maltase deficiency, late-onset","Alpha-1,4-glucosidase acid deficiency, late-onset|GSD due to acid maltase deficiency, late-onset|GSD type 2, late-onset|GSD type II, late-onset|Glycogen storage disease type 2, late-onset|Glycogen storage disease type II, late-onset|Glycogenosis type 2, late-onset|Glycogenosis type II, late-onset|Pompe disease, late-onset" +GARD:0021747,Orphanet,ORPHA:420699,Disorder,Disease,Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency, +GARD:0021748,Orphanet,ORPHA:420755,Group of disorders,Category,Rare genetic odontal or periodontal disorder, +GARD:0021749,Orphanet,ORPHA:420789,Disorder,Disease,Autoimmune encephalopathy with parasomnia and obstructive sleep apnea,Anti-IgLON5 disease|Anti-IgLON5 syndrome +GARD:0021750,Orphanet,ORPHA:420794,Disorder,Malformation syndrome,Cono-spondylar dysplasia,Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome +GARD:0021751,Orphanet,ORPHA:423306,Disorder,Malformation syndrome,Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome, +GARD:0021752,Orphanet,ORPHA:423479,Disorder,Disease,X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome, +GARD:0021753,Orphanet,ORPHA:423655,Group of disorders,Clinical group,ARX-related encephalopathy-brain malformation spectrum, +GARD:0021754,Orphanet,ORPHA:423662,Group of disorders,Category,Rare autonomic nervous system disorder, +GARD:0021755,Orphanet,ORPHA:423693,Subtype of disorder,Clinical subtype,Double outlet right ventricle with subaortic or doubly committed ventricular septal defect,DORV with subaortic or doubly committed VSD +GARD:0021756,Orphanet,ORPHA:423712,Subtype of disorder,Clinical subtype,"Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy","DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy" +GARD:0021757,Orphanet,ORPHA:423771,Group of disorders,Category,Rare carcinoma of stomach,Rare gastric carcinoma +GARD:0021758,Orphanet,ORPHA:423776,Group of disorders,Category,Hereditary gastric cancer,Hereditary cancer of stomach +GARD:0021759,Orphanet,ORPHA:423786,Disorder,Disease,Undifferentiated carcinoma of stomach,Undifferentiated gastric carcinoma +GARD:0021760,Orphanet,ORPHA:423793,Group of disorders,Category,Rare tumor of small intestine,Rare tumor of small bowel +GARD:0021761,Orphanet,ORPHA:423798,Group of disorders,Category,Mesenchymal tumor of small intestine,Mesenchymal tumor of small bowel +GARD:0021762,Orphanet,ORPHA:423894,Disorder,Disease,Microcephaly-complex motor and sensory axonal neuropathy syndrome, +GARD:0021763,Orphanet,ORPHA:423957,Group of disorders,Category,Rare carcinoma of small intestine,Rare carcinoma of small bowel +GARD:0021764,Orphanet,ORPHA:423968,Disorder,Disease,Squamous cell carcinoma of the small intestine,Squamous cell carcinoma of the small bowel +GARD:0021765,Orphanet,ORPHA:423975,Group of disorders,Category,Neuroendocrine tumor of the small intestine,NET of the small intestine|Neuroendocrine neoplasm of the small intestine|Neuroendocrine tumor of small bowel +GARD:0021766,Orphanet,ORPHA:423982,Group of disorders,Category,Epithelial tumor of the appendix,Appendiceal epithelial tumor +GARD:0021767,Orphanet,ORPHA:423991,Group of disorders,Category,Rare epithelial tumor of colon, +GARD:0021768,Orphanet,ORPHA:423994,Disorder,Disease,Squamous cell carcinoma of the colon, +GARD:0021769,Orphanet,ORPHA:423998,Group of disorders,Category,Rare epithelial tumor of rectum,Rare rectal epithelial tumor +GARD:0021770,Orphanet,ORPHA:424002,Disorder,Disease,Squamous cell carcinoma of the rectum,Rectal squamous cell carcinoma +GARD:0021771,Orphanet,ORPHA:424010,Group of disorders,Category,Epithelial tumor of anal canal, +GARD:0021772,Orphanet,ORPHA:424013,Group of disorders,Clinical group,Carcinoma of the anal canal, +GARD:0021773,Orphanet,ORPHA:424016,Disorder,Disease,Adenocarcinoma of the anal canal, +GARD:0021774,Orphanet,ORPHA:424019,Disorder,Disease,Squamous cell carcinoma of the anal canal, +GARD:0021775,Orphanet,ORPHA:424033,Group of disorders,Category,Rare epithelial tumor of pancreas,Rare pancreatic epithelial tumor +GARD:0021776,Orphanet,ORPHA:424039,Disorder,Disease,Squamous cell carcinoma of pancreas,Pancreatic squamous cell carcinoma +GARD:0021777,Orphanet,ORPHA:424046,Disorder,Disease,Acinar cell carcinoma of pancreas,Pancreatic acinar cell carcinoma +GARD:0021778,Orphanet,ORPHA:424053,Disorder,Disease,Mucinous cystadenocarcinoma of the pancreas,Pancreatic mucinous cystadenocarcinoma +GARD:0021779,Orphanet,ORPHA:424058,Disorder,Disease,Intraductal papillary mucinous carcinoma of pancreas,IPMN|Pancreatic intraductal papillary mucinous carcinoma +GARD:0021780,Orphanet,ORPHA:424065,Disorder,Disease,Solid pseudopapillary carcinoma of pancreas,Pancreatic solid pseudopapillary carcinoma|Solid pseudopapillary neoplasm of the pancreas +GARD:0021781,Orphanet,ORPHA:424073,Disorder,Disease,Serous cystadenocarcinoma of pancreas,Pancreatic serous cystadenocarcinoma +GARD:0021782,Orphanet,ORPHA:424080,Disorder,Disease,Osteoclastic giant cell tumor of pancreas,OGCT of pancreas|Pancreatic osteoclastic giant cell tumor|Pancreatic undifferentiated carcinoma with osteoclast-like giant cells|Undifferentiated carcinoma of pancreas with osteoclast-like giant cells +GARD:0021783,Orphanet,ORPHA:424107,Disorder,Disease,Congenital myopathy with myasthenic-like onset, +GARD:0021784,Orphanet,ORPHA:424925,Group of disorders,Category,Qualitative or quantitative defects of Torsin-1A-interacting protein 1, +GARD:0021785,Orphanet,ORPHA:424933,Group of disorders,Category,Rare malignant epithelial tumor of liver and intrahepatic biliary tract,Rare malignant epithelial tumor of liver and IBT +GARD:0021786,Orphanet,ORPHA:424936,Group of disorders,Category,Carcinoma of liver and intrahepatic biliary tract,Carcinoma of liver and IBT +GARD:0021787,Orphanet,ORPHA:424943,Disorder,Disease,Adenocarcinoma of the liver and intrahepatic biliary tract,Adenocarcinoma of the liver and IBT +GARD:0021788,Orphanet,ORPHA:424970,Disorder,Disease,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Undifferentiated carcinoma of liver and IBT +GARD:0021789,Orphanet,ORPHA:424975,Disorder,Disease,Squamous cell carcinoma of liver and intrahepatic biliary tract,Squamous cell carcinoma of liver and IBT +GARD:0021790,Orphanet,ORPHA:424982,Disorder,Disease,Biliary cystadenocarcinoma,Intrahepatic bile duct cystadenocarcinoma +GARD:0021791,Orphanet,ORPHA:424991,Disorder,Disease,Adenocarcinoma of the gallbladder and extrahepatic biliary tract,Adenocarcinoma of the gallbladder and EBT +GARD:0021792,Orphanet,ORPHA:424996,Disorder,Disease,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Squamous cell carcinoma of gallblader and EBT +GARD:0021793,Orphanet,ORPHA:425003,Group of disorders,Category,Inherited digestive cancer-predisposing syndrome, +GARD:0021794,Orphanet,ORPHA:425368,Group of disorders,Category,Rare epithelial tumor of small intestine,Rare epithelial tumor of small bowel +GARD:0021795,Orphanet,ORPHA:431156,Group of disorders,Category,Primary immunodeficiency with predisposition to severe viral infection, +GARD:0021796,Orphanet,ORPHA:431263,Group of disorders,Clinical group,Late-onset scapuloperoneal muscular dystrophy with hyaline bodies,"Late-onset SPMD with hyaline bodies|Late-onset scapuloperoneal syndrome, myopathic type" +GARD:0021797,Orphanet,ORPHA:431320,Group of disorders,Clinical group,Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder,SPOAN and SPOAN-related disorder +GARD:0021798,Orphanet,ORPHA:431341,Disorder,Morphological anomaly,Patent urachus, +GARD:0021799,Orphanet,ORPHA:431344,Disorder,Morphological anomaly,Urachal sinus, +GARD:0021800,Orphanet,ORPHA:431347,Disorder,Morphological anomaly,Urachal diverticulum,Vesicourachal diverticulum +GARD:0021801,Orphanet,ORPHA:431353,Group of disorders,Category,Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis, +GARD:0021802,Orphanet,ORPHA:434786,Group of disorders,Category,Rare genetic autonomic nervous system disorder, +GARD:0021803,Orphanet,ORPHA:434809,Group of disorders,Category,Syndrome with woolly hair, +GARD:0021804,Orphanet,ORPHA:435365,Group of disorders,Clinical group,Fetal lower urinary tract obstruction,LUTO +GARD:0021805,Orphanet,ORPHA:435372,Disorder,Morphological anomaly,Anterior urethral valve, +GARD:0021806,Orphanet,ORPHA:435554,Group of disorders,Category,Genetic precocious puberty, +GARD:0021807,Orphanet,ORPHA:435561,Group of disorders,Category,Precocious puberty in female, +GARD:0021808,Orphanet,ORPHA:435564,Group of disorders,Category,Genetic precocious puberty in female, +GARD:0021809,Orphanet,ORPHA:435603,Group of disorders,Category,Genetic otorhinolaryngological malformation, +GARD:0021810,Orphanet,ORPHA:435606,Group of disorders,Category,Genetic nose and cavum anomaly, +GARD:0021811,Orphanet,ORPHA:435609,Group of disorders,Category,Genetic larynx anomaly, +GARD:0021812,Orphanet,ORPHA:435612,Group of disorders,Category,Genetic tracheal anomaly, +GARD:0021813,Orphanet,ORPHA:435638,Disorder,Malformation syndrome,3p25.3 microdeletion syndrome,Del(3)p(25.3)|Intellectual disability-epilepsy-stereotypic hand movement syndrome|Monosomy 3p25.3 +GARD:0021814,Orphanet,ORPHA:435743,Group of disorders,Category,Congenital urachal anomaly, +GARD:0021815,Orphanet,ORPHA:435819,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,CMT2 due to TFG mutation +GARD:0021816,Orphanet,ORPHA:436003,Disorder,Malformation syndrome,Contractures-developmental delay-Pierre Robin syndrome,5q23 microdeletion syndrome +GARD:0021817,Orphanet,ORPHA:436141,Disorder,Malformation syndrome,Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome, +GARD:0021818,Orphanet,ORPHA:436144,Disorder,Disease,Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome, +GARD:0021819,Orphanet,ORPHA:436271,Disorder,Disease,Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy, +GARD:0021820,Orphanet,ORPHA:436274,Disorder,Disease,Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,PXE-like syndrome with retinitis pigmentosa +GARD:0021821,Orphanet,ORPHA:438072,Group of disorders,Category,Disorder of keton body transport, +GARD:0021822,Orphanet,ORPHA:438279,Disorder,Disease,Human infection by orthopoxvirus, +GARD:0021823,Orphanet,ORPHA:439167,Disorder,Clinical syndrome,Placental insufficiency,Uteroplacental vascular insufficiency +GARD:0021824,Orphanet,ORPHA:439175,Disorder,Clinical syndrome,Pediatric arterial ischemic stroke,Childhood AIS|Childhood arterial ischemic stroke|Pediatric AIS +GARD:0021825,Orphanet,ORPHA:439196,Disorder,Particular clinical situation in a disease or syndrome,Zinc-responsive necrolytic acral erythema,NAE|Necrolytic acral erythema +GARD:0021826,Orphanet,ORPHA:439202,Disorder,Disease,Non-recovering obstetric brachial plexus lesion,Chronic obstetric brachial plexus injury|Chronic obstetric brachial plexus palsy|Non-recovering OBPI|Non-recovering OBPL +GARD:0021827,Orphanet,ORPHA:439224,Disorder,Disease,ALECT2 amyloidosis,Leukocyte chemotactic factor-2 amyloidosis +GARD:0021828,Orphanet,ORPHA:439232,Disorder,Disease,AApoAIV amyloidosis,Apolipoprotein A-IV amyloidosis +GARD:0021829,Orphanet,ORPHA:439246,Group of disorders,Clinical group,ABeta2M amyloidosis,Beta2-microglobulinic amyloidosis +GARD:0021830,Orphanet,ORPHA:439737,Subtype of disorder,Clinical subtype,Primary polyarteritis nodosa,Primary PAN|Primary periarteritis nodosa +GARD:0021831,Orphanet,ORPHA:439746,Subtype of disorder,Clinical subtype,Secondary polyarteritis nodosa,Secondary PAN|Secondary periarteritis nodosa +GARD:0021832,Orphanet,ORPHA:439755,Subtype of disorder,Clinical subtype,Single-organ polyarteritis nodosa,Single-organ PAN|Single-organ periarteritis nodosa +GARD:0021833,Orphanet,ORPHA:439762,Subtype of disorder,Clinical subtype,Systemic polyarteritis nodosa,Systemic PAN|Systemic periarteritis nodosa +GARD:0021834,Orphanet,ORPHA:439849,Group of disorders,Category,Autosomal recessive severe congenital neutropenia, +GARD:0021835,Orphanet,ORPHA:439881,Disorder,Particular clinical situation in a disease or syndrome,Plastic bronchitis,Croupous bronchitis|Fibrinous bronchitis|Pseudo-membranous bronchitis +GARD:0021836,Orphanet,ORPHA:440221,Disorder,Disease,Congenital oculomotor nerve palsy,Congenital CNIII lesion|Congenital third cranial nerve palsy +GARD:0021837,Orphanet,ORPHA:440233,Disorder,Disease,Congenital abducens nerve palsy,Benign congenital sixth cranial nerve palsy|Congenital CNVI palsy +GARD:0021838,Orphanet,ORPHA:440354,Disorder,Malformation syndrome,Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome +GARD:0021839,Orphanet,ORPHA:440368,Disorder,Disease,Necrotizing soft tissue infection,NSTI +GARD:0021840,Orphanet,ORPHA:440437,Disorder,Disease,Familial colorectal cancer Type X,FCCTX +GARD:0021841,Orphanet,ORPHA:440701,Group of disorders,Category,Disorders of pentose/polyol metabolism, +GARD:0021842,Orphanet,ORPHA:440724,Disorder,Disease,Extensive peripapillary myelinated nerve fibers, +GARD:0021843,Orphanet,ORPHA:440727,Disorder,Disease,Combined hamartoma of the retina and retinal pigment epithelium,CHR-RPE|Combined hamartoma of the retina and RPE +GARD:0021844,Orphanet,ORPHA:440987,Disorder,Morphological anomaly,Isolated agenesis of gallbladder, +GARD:0021845,Orphanet,ORPHA:441434,Group of disorders,Category,Syndromic hereditary optic neuropathy, +GARD:0021846,Orphanet,ORPHA:441447,Subtype of disorder,Clinical subtype,Early-onset posterior subcapsular cataract, +GARD:0021847,Orphanet,ORPHA:442582,Disorder,Disease,AH amyloidosis,Heavy chain amyloidosis +GARD:0021848,Orphanet,ORPHA:443090,Group of disorders,Category,"46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect", +GARD:0021849,Orphanet,ORPHA:443095,Group of disorders,Category,Hyperinsulinemic hypoglycaemia, +GARD:0021850,Orphanet,ORPHA:443101,Disorder,Disease,Hypothalamic adipsic hypernatraemia syndrome, +GARD:0021851,Orphanet,ORPHA:443159,Disorder,Disease,Lymphoplasmacytic lymphoma without IgM production,Lymphoplasmacytic lymphoma without Immunoglobulin M production +GARD:0021852,Orphanet,ORPHA:443167,Disorder,Disease,NUT midline carcinoma,NMC +GARD:0021853,Orphanet,ORPHA:443173,Disorder,Disease,Postpartum psychosis,Puerperal psychosis +GARD:0021854,Orphanet,ORPHA:443180,Disorder,Disease,Spontaneous intracranial hypotension,Spontaneous cerebrospinal fluid leak +GARD:0021855,Orphanet,ORPHA:443227,Disorder,Disease,Paratyphoid fever, +GARD:0021856,Orphanet,ORPHA:443287,Group of disorders,Category,ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor, +GARD:0021857,Orphanet,ORPHA:443291,Disorder,Particular clinical situation in a disease or syndrome,HIV-associated cancer,HIV-related cancer +GARD:0021858,Orphanet,ORPHA:444002,Disorder,Malformation syndrome,11q22.2q22.3 microdeletion syndrome,Del(11)(q22.2q22.3)|Monosomy 11q22.2q22.3 +GARD:0021859,Orphanet,ORPHA:444051,Disorder,Malformation syndrome,20q11.2 microdeletion syndrome,Del(20)(q11.2)|Monosomy 20q11 +GARD:0021860,Orphanet,ORPHA:444316,Disorder,Disease,Idiopathic phalangeal acro-osteolysis,Idiopathic phalangeal acroosteolysis +GARD:0021861,Orphanet,ORPHA:444916,Group of disorders,Clinical group,Pseudohypoaldosteronism, +GARD:0021862,Orphanet,ORPHA:444941,Group of disorders,Clinical group,Caudal regression-sirenomelia spectrum, +GARD:0021863,Orphanet,ORPHA:445197,Group of disorders,Category,Secondary vasculitis, +GARD:0021864,Orphanet,ORPHA:447731,Disorder,Disease,NIK deficiency,Primary immunodeficiency with multifaceted aberrant lymphoid immunity +GARD:0021865,Orphanet,ORPHA:447740,Disorder,Disease,Susceptibility to localized juvenile periodontitis, +GARD:0021866,Orphanet,ORPHA:447757,Disorder,Disease,Autosomal dominant spastic paraplegia type 9B,AD-SPG9B +GARD:0021867,Orphanet,ORPHA:447764,Subtype of disorder,Clinical subtype,IgG4-related sclerosing cholangitis, +GARD:0021868,Orphanet,ORPHA:447771,Group of disorders,Clinical group,Sclerosing cholangitis, +GARD:0021869,Orphanet,ORPHA:447774,Disorder,Disease,Secondary sclerosing cholangitis, +GARD:0021870,Orphanet,ORPHA:447777,Disorder,Disease,Keratocystic odontogenic tumor,KTOC|Odontogenic keratocystoma +GARD:0021871,Orphanet,ORPHA:447788,Disorder,Clinical syndrome,Cerebral visual impairment,Cortical visual impairment +GARD:0021872,Orphanet,ORPHA:447795,Disorder,Biological anomaly,Lipoyl transferase 2 deficiency, +GARD:0021873,Orphanet,ORPHA:447874,Group of disorders,Category,Biological anomaly without phenotypic characterization, +GARD:0021874,Orphanet,ORPHA:447881,Disorder,Clinical syndrome,Idiopathic dropped head syndrome,Isolated neck extensor myopathy +GARD:0021875,Orphanet,ORPHA:447980,Disorder,Malformation syndrome,19p13.3 microduplication syndrome,Dup(19)(p13.13) +GARD:0021876,Orphanet,ORPHA:447985,Group of disorders,Category,Partial duplication of the short arm of chromosome 19,Partial duplication of chromosome 19p|Partial trisomy of chromosome 19p|Partial trisomy of the short arm of chromosome 19 +GARD:0021877,Orphanet,ORPHA:448270,Disorder,Morphological anomaly,Ectopia cordis, +GARD:0021878,Orphanet,ORPHA:448426,Group of disorders,Category,Genetic primary orthostatic hypotension, +GARD:0021879,Orphanet,ORPHA:449266,Disorder,Particular clinical situation in a disease or syndrome,Pleural empyema, +GARD:0021880,Orphanet,ORPHA:449280,Disorder,Disease,Scedosporiosis, +GARD:0021881,Orphanet,ORPHA:449285,Disorder,Disease,Snakebite envenomation, +GARD:0021882,Orphanet,ORPHA:449395,Subtype of disorder,Clinical subtype,IgG4-related kidney disease, +GARD:0021883,Orphanet,ORPHA:449400,Subtype of disorder,Clinical subtype,IgG4-related aortitis, +GARD:0021884,Orphanet,ORPHA:449432,Subtype of disorder,Clinical subtype,IgG4-related submandibular gland disease,Küttner tumor +GARD:0021885,Orphanet,ORPHA:449563,Subtype of disorder,Clinical subtype,IgG4-related ophthalmic disease, +GARD:0021886,Orphanet,ORPHA:449566,Disorder,Disease,Eosinophilic angiocentric fibrosis,IgG4-related eosinophilic angiocentric fibrosis +GARD:0021887,Orphanet,ORPHA:450322,Disorder,Clinical syndrome,Polyclonal hyperviscosity syndrome, +GARD:0021888,Orphanet,ORPHA:451602,Disorder,Disease,Primary cutaneous plasmacytosis, +GARD:0021889,Orphanet,ORPHA:451607,Disorder,Disease,Cutaneous pseudolymphoma, +GARD:0021890,Orphanet,ORPHA:453510,Disorder,Disease,Congenital insensitivity to pain with severe intellectual disability,Congenital absence of pain with severe intellectual disability|Congenital analgesia with severe intellectual disability|Congenital insensitivity to pain with preserved temperature sensation|Congenital insensitivity to pain with severe non-progressive cognitive delay +GARD:0021891,Orphanet,ORPHA:454706,Disorder,Disease,Progressive muscular atrophy,PMA +GARD:0021892,Orphanet,ORPHA:454710,Disorder,Disease,Anti-p200 pemphigoid, +GARD:0021893,Orphanet,ORPHA:454723,Disorder,Disease,Endometrioid carcinoma of ovary, +GARD:0021894,Orphanet,ORPHA:454742,Disorder,Disease,Variably protease-sensitive prionopathy, +GARD:0021895,Orphanet,ORPHA:454750,Disorder,Morphological anomaly,Isolated tracheoesophageal fistula,H-type tracheoesophageal fistula +GARD:0021896,Orphanet,ORPHA:454831,Disorder,Particular clinical situation in a disease or syndrome,Acute radiation syndrome,Acute radiation sickness +GARD:0021897,Orphanet,ORPHA:454836,Disorder,Disease,Avian influenza, +GARD:0021898,Orphanet,ORPHA:456298,Disorder,Malformation syndrome,1p35.2 microdeletion syndrome,Del(1)(p35.2)|Deletion 1p35.2|Monosomy 1p35.2 +GARD:0021899,Orphanet,ORPHA:456333,Disorder,Disease,Hereditary neuroendocrine tumor of small intestine,Hereditary neuroendocrine tumor of small bowel +GARD:0021900,Orphanet,ORPHA:457062,Group of disorders,Clinical group,Pseudohypoparathyroidism without Albright hereditary osteodystrophy, +GARD:0021901,Orphanet,ORPHA:457074,Group of disorders,Clinical group,Congenital nemaline myopathy, +GARD:0021902,Orphanet,ORPHA:457077,Disorder,Disease,TAFRO syndrome,Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome +GARD:0021903,Orphanet,ORPHA:457083,Disorder,Morphological anomaly,Isolated splenogonadal fusion,SGF +GARD:0021904,Orphanet,ORPHA:457205,Disorder,Disease,Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome,ANOAC|Axonal neuropathy-optic atrophy-cognitive deficit syndrome +GARD:0021905,Orphanet,ORPHA:457246,Disorder,Disease,Clear cell sarcoma of kidney,CCSK +GARD:0021906,Orphanet,ORPHA:457365,Disorder,Malformation syndrome,Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome, +GARD:0021907,Orphanet,ORPHA:458758,Disorder,Disease,Composite hemangioendothelioma, +GARD:0021908,Orphanet,ORPHA:458763,Disorder,Disease,Retiform hemangioendothelioma, +GARD:0021909,Orphanet,ORPHA:458768,Disorder,Disease,Primary intralymphatic angioendothelioma,Dabska tumor +GARD:0021910,Orphanet,ORPHA:458775,Group of disorders,Clinical group,Congenital hemangioma, +GARD:0021911,Orphanet,ORPHA:458785,Disorder,Disease,Partially involuting congenital hemangioma, +GARD:0021912,Orphanet,ORPHA:458792,Disorder,Malformation syndrome,Mixed cystic lymphatic malformation,Mixed cystic lymphangioma +GARD:0021913,Orphanet,ORPHA:458827,Group of disorders,Category,Vascular tumor with associated anomalies, +GARD:0021914,Orphanet,ORPHA:458830,Group of disorders,Category,Rare capillary malformation with associated anomalies, +GARD:0021915,Orphanet,ORPHA:458833,Group of disorders,Clinical group,Common cystic lymphatic malformation, +GARD:0021916,Orphanet,ORPHA:458837,Group of disorders,Clinical group,Rare combined vascular malformation, +GARD:0021917,Orphanet,ORPHA:458844,Group of disorders,Category,Rare vascular malformation of major vessels, +GARD:0021918,Orphanet,ORPHA:459074,Disorder,Malformation syndrome,Corpus callosum agenesis-macrocephaly-hypertelorism syndrome,7q36.3 microduplication syndrome|Dup(7)(q36.3) +GARD:0021919,Orphanet,ORPHA:459345,Group of disorders,Category,Immunodeficiency due to a complement cascade component deficiency, +GARD:0021920,Orphanet,ORPHA:459348,Group of disorders,Category,Immunodeficiency due to a complement regulatory deficiency, +GARD:0021921,Orphanet,ORPHA:459526,Group of disorders,Category,Rare genetic capillary malformation, +GARD:0021922,Orphanet,ORPHA:459537,Group of disorders,Category,Genetic complex vascular malformation with associated anomalies,Genetic hemangiolymphangioma +GARD:0021923,Orphanet,ORPHA:459543,Group of disorders,Category,Rare genetic vascular tumor, +GARD:0021924,Orphanet,ORPHA:459548,Group of disorders,Category,Rare genetic venous malformation, +GARD:0021925,Orphanet,ORPHA:459787,Group of disorders,Category,Lethal multiple congenital anomalies/dysmorphic syndrome, +GARD:0021926,Orphanet,ORPHA:464311,Subtype of disorder,Etiological subtype,Intellectual disability syndrome due to a DYRK1A point mutation,DYRK1A-related intellectual disability syndrome due to a point mutation +GARD:0021927,Orphanet,ORPHA:464318,Disorder,Disease,Verrucous hemangioma, +GARD:0021928,Orphanet,ORPHA:464359,Disorder,Disease,Benign metanephric tumor, +GARD:0021929,Orphanet,ORPHA:464370,Disorder,Disease,Neonatal alloimmune neutropenia, +GARD:0021930,Orphanet,ORPHA:464453,Disorder,Disease,Acquired methemoglobinemia,Drug-induced methemoglobinemia +GARD:0021931,Orphanet,ORPHA:464458,Disorder,Particular clinical situation in a disease or syndrome,Paracetamol poisoning,Acetaminophen poisoning +GARD:0021932,Orphanet,ORPHA:464756,Disorder,Disease,Familial gastric type 1 neuroendocrine tumor, +GARD:0021933,Orphanet,ORPHA:464764,Group of disorders,Clinical group,Immune-mediated acquired neuromuscular junction disease, +GARD:0021934,Orphanet,ORPHA:466066,Group of disorders,Category,Genetic hemoglobinopathy, +GARD:0021935,Orphanet,ORPHA:466084,Group of disorders,Category,Genetic otorhinolaryngologic disease, +GARD:0021936,Orphanet,ORPHA:466650,Disorder,Disease,Exercise-induced malignant hyperthermia,Exertional heat stroke +GARD:0021937,Orphanet,ORPHA:466658,Group of disorders,Category,Rare disease with malignant hyperthermia, +GARD:0021938,Orphanet,ORPHA:466670,Disorder,Particular clinical situation in a disease or syndrome,Cyanide poisoning, +GARD:0021939,Orphanet,ORPHA:466677,Disorder,Disease,Scorpion envenomation, +GARD:0021940,Orphanet,ORPHA:466682,Disorder,Disease,Euthyroid Graves orbitopathy,Euthyroid Graves ophthalmopathy +GARD:0021941,Orphanet,ORPHA:466695,Disorder,Morphological anomaly,Supratip dysplasia, +GARD:0021942,Orphanet,ORPHA:466921,Disorder,Disease,Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome, +GARD:0021943,Orphanet,ORPHA:466962,Disorder,Disease,SMARCA4-deficient sarcoma of thorax,SMARCA4-deficient thoracic sarcoma +GARD:0021944,Orphanet,ORPHA:467166,Disorder,Disease,Tubulinopathy-associated dysgyria,Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome +GARD:0021945,Orphanet,ORPHA:468635,Disorder,Disease,Cryptogenic multifocal ulcerous stenosing enteritis,CMUSE +GARD:0021946,Orphanet,ORPHA:468641,Disorder,Disease,Chronic enteropathy associated with SLCO2A1 gene,CEAS +GARD:0021947,Orphanet,ORPHA:471383,Group of disorders,Category,Genetic lethal multiple congenital anomalies/dysmorphic syndrome, +GARD:0021948,Orphanet,ORPHA:474347,Group of disorders,Clinical group,Rare congenital anomaly of ventricular septum,Congenital anomaly of interventricular communication|Congenital ventricular septal anomaly +GARD:0021949,Orphanet,ORPHA:476093,Disorder,Disease,Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome, +GARD:0021950,Orphanet,ORPHA:476096,Disorder,Disease,Erythrokeratodermia-cardiomyopathy syndrome,EKC syndrome +GARD:0021951,Orphanet,ORPHA:476109,Group of disorders,Clinical group,Axonal hereditary motor and sensory neuropathy,Axonal HMSN +GARD:0021952,Orphanet,ORPHA:476116,Group of disorders,Clinical group,Demyelinating hereditary motor and sensory neuropathy,Demyelinating HMSN +GARD:0021953,Orphanet,ORPHA:476119,Disorder,Malformation syndrome,Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome, +GARD:0021954,Orphanet,ORPHA:476123,Group of disorders,Clinical group,Intermediate Charcot-Marie-Tooth disease,Intermediate CMT|Intermediate hereditary motor and sensory neuropathy +GARD:0021955,Orphanet,ORPHA:476403,Group of disorders,Clinical group,Hypercontractile muscle stiffness syndrome, +GARD:0021956,Orphanet,ORPHA:476406,Disorder,Disease,Congenital generalized hypercontractile muscle stiffness syndrome, +GARD:0021957,Orphanet,ORPHA:477647,Group of disorders,Category,Type 1 interferonopathy, +GARD:0021958,Orphanet,ORPHA:477650,Disorder,Disease,Fibroblastic rheumatism, +GARD:0021959,Orphanet,ORPHA:477742,Disorder,Disease,Nodular fasciitis,Pseudosarcomatous fasciitis|Pseudosarcomatous fibromatosis +GARD:0021960,Orphanet,ORPHA:477754,Group of disorders,Category,Genetic cerebral small vessel disease, +GARD:0021961,Orphanet,ORPHA:477759,Group of disorders,Category,COL4A1 or COL4A2-related cerebral small vessel disease,COL4A1 or COL4A2-related cerebral angiopathy +GARD:0021962,Orphanet,ORPHA:477762,Group of disorders,Clinical group,COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy,COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy +GARD:0021963,Orphanet,ORPHA:477765,Group of disorders,Clinical group,COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy,COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy +GARD:0021964,Orphanet,ORPHA:477768,Group of disorders,Clinical group,Moyamoya angiopathy, +GARD:0021965,Orphanet,ORPHA:477771,Group of disorders,Category,Rare disorder with a moyamoya angiopathy, +GARD:0021966,Orphanet,ORPHA:477781,Disorder,Disease,Primary condylar hyperplasia,Type 1 condylar hyperplasia +GARD:0021967,Orphanet,ORPHA:477794,Group of disorders,Category,Syndromic constitutional thrombocytopenia, +GARD:0021968,Orphanet,ORPHA:477797,Group of disorders,Category,Isolated constitutional thrombocytopenia,Constitutional thrombocytopenia without extra-hematopoietic manifestations|Non-syndromic constitutional thrombocytopenia +GARD:0021969,Orphanet,ORPHA:477805,Group of disorders,Category,Genetic cardiac malformation, +GARD:0021970,Orphanet,ORPHA:477808,Group of disorders,Category,Other genetic dermis disorder, +GARD:0021971,Orphanet,ORPHA:477811,Group of disorders,Category,Rare hypercholesterolemia, +GARD:0021972,Orphanet,ORPHA:480491,Subtype of disorder,Clinical subtype,MYO5B-related progressive familial intrahepatic cholestasis,MYO5B deficiency +GARD:0021973,Orphanet,ORPHA:480501,Disorder,Morphological anomaly,Choledochal cyst,Congenital cystic dilatation of the biliary tract +GARD:0021974,Orphanet,ORPHA:480506,Disorder,Disease,Primary intrahepatic lithiasis,PIHL|Primary hepatolithiasis +GARD:0021975,Orphanet,ORPHA:480512,Disorder,Disease,Idiopathic ductopenia,IAD|Idiopathic adult ductopenia +GARD:0021976,Orphanet,ORPHA:480520,Disorder,Malformation syndrome,Caroli syndrome, +GARD:0021977,Orphanet,ORPHA:480524,Disorder,Disease,Idiopathic peliosis hepatis,Idiopathic peliosis hepatitis +GARD:0021978,Orphanet,ORPHA:480528,Disorder,Malformation syndrome,Lethal hydranencephaly-diaphragmatic hernia syndrome, +GARD:0021979,Orphanet,ORPHA:480531,Disorder,Morphological anomaly,Congenital portosystemic shunt,Congenital portosystemic venous fistula +GARD:0021980,Orphanet,ORPHA:480541,Disorder,Disease,High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement, +GARD:0021981,Orphanet,ORPHA:480549,Group of disorders,Category,Non-severe combined immunodeficiency,Non-SCID +GARD:0021982,Orphanet,ORPHA:480553,Disorder,Disease,Aneurysmal bone cyst, +GARD:0021983,Orphanet,ORPHA:480556,Disorder,Disease,Isolated neonatal sclerosing cholangitis, +GARD:0021984,Orphanet,ORPHA:480701,Disorder,Disease,Facial diplegia with paresthesias,Facial diplegia with paresthesias variant of GBS|Facial diplegia with paresthesias variant of Guillain-Barré syndrome +GARD:0021985,Orphanet,ORPHA:481508,Group of disorders,Category,Gastroenteric neuroendocrine neoplasm, +GARD:0021986,Orphanet,ORPHA:481671,Group of disorders,Category,Type 1 interferonopathy of childhood, +GARD:0021987,Orphanet,ORPHA:481771,Group of disorders,Category,Genetic alopecia, +GARD:0021988,Orphanet,ORPHA:482072,Group of disorders,Clinical group,HTRA1-related cerebral small vessel disease,HTRA1-related cerebral angiopathy +GARD:0021989,Orphanet,ORPHA:482092,Group of disorders,Category,Rare idiopathic macular telangiectasia, +GARD:0021990,Orphanet,ORPHA:482606,Disorder,Malformation syndrome,X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome, +GARD:0021991,Orphanet,ORPHA:485358,Disorder,Malformation syndrome,Propylthiouracil embryofetopathy,PTU embryofetopathy|PTU embryopathy|Propylthiouracil embryopathy +GARD:0021992,Orphanet,ORPHA:485382,Group of disorders,Category,Genetic non-acquired premature ovarian failure, +GARD:0021993,Orphanet,ORPHA:485405,Disorder,Malformation syndrome,16p12.1p12.3 triplication syndrome,Tetrasomy 16p12.1p12.3|Trip(16)(p12.1p12.3) +GARD:0021994,Orphanet,ORPHA:485418,Disorder,Disease,EMILIN-1-related connective tissue disease, +GARD:0021995,Orphanet,ORPHA:485426,Disorder,Disease,Isolated congenital hepatic fibrosis,Isolated CHF +GARD:0021996,Orphanet,ORPHA:485631,Group of disorders,Clinical group,Congenital bile acid synthesis defect,BASD +GARD:0021997,Orphanet,ORPHA:486955,Group of disorders,Category,Rare pediatric rheumatologic disease, +GARD:0021998,Orphanet,ORPHA:487809,Disorder,Disease,Pediatric collagenous gastritis,Childhood-onset collagenous gastritis +GARD:0021999,Orphanet,ORPHA:487814,Disorder,Disease,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,CMT2 due to DGAT2 mutation +GARD:0022000,Orphanet,ORPHA:488239,Disorder,Disease,Acute macular neuroretinopathy,AMNR +GARD:0022001,Orphanet,ORPHA:488437,Disorder,Malformation syndrome,SIX2-related frontonasal dysplasia,SIX2-related FND +GARD:0022002,Orphanet,ORPHA:488586,Disorder,Malformation syndrome,Congenital amyoplasia,Amyoplasia congenita +GARD:0022003,Orphanet,ORPHA:494424,Disorder,Morphological anomaly,Extracranial carotid artery aneurysm,ECAA|ECCA +GARD:0022004,Orphanet,ORPHA:494428,Disorder,Disease,Idiopathic pleuroparenchymal fibroelastosis,IPPFE|Idiopathic pleuropulmonary fibroelastosis +GARD:0022005,Orphanet,ORPHA:494448,Subtype of disorder,Histopathological subtype,Vulvar squamous cell carcinoma,Squamous cell carcinoma of the vulva +GARD:0022006,Orphanet,ORPHA:494451,Subtype of disorder,Histopathological subtype,Vulvar basal cell carcinoma,Basal cell carcinoma of vulva +GARD:0022007,Orphanet,ORPHA:494454,Subtype of disorder,Histopathological subtype,Vulvar adenocarcinoma,Adenocarcinoma of the vulva +GARD:0022008,Orphanet,ORPHA:494457,Group of disorders,Category,Rare hyperkinetic movement disorder, +GARD:0022009,Orphanet,ORPHA:495818,Disorder,Malformation syndrome,9q33.3q34.11 microdeletion syndrome,Del(9)(q33.3q34.11)|Deletion 9q33.3q34.11|Monosomy 9q33.3q34.11 +GARD:0022010,Orphanet,ORPHA:495875,Disorder,Malformation syndrome,Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome +GARD:0022011,Orphanet,ORPHA:495879,Disorder,Morphological anomaly,Congenital agenesis of the scrotum,Congenital absence of the scrotum|Congenital scrotal absence|Congenital scrotal agenesis +GARD:0022012,Orphanet,ORPHA:496689,Disorder,Disease,Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,Kyphoscoliosis-lateral tongue atrophy-HSP syndrome +GARD:0022013,Orphanet,ORPHA:496916,Group of disorders,Category,Rare genetic hyperkinetic movement disorder, +GARD:0022014,Orphanet,ORPHA:496924,Group of disorders,Category,Non-inflammatory vasculopathy, +GARD:0022015,Orphanet,ORPHA:497623,Group of disorders,Clinical group,C12ORF65-related combined oxidative phosphorylation defect,C12ORF65-related COXPD +GARD:0022016,Orphanet,ORPHA:497737,Disorder,Disease,Epidermolytic nevus,Epidermal nevus with epidermolytic hyperkeratosis|Epidermolytic epidermal nevus|Epidermolytic verrucous epidermal nevus +GARD:0022017,Orphanet,ORPHA:498251,Disorder,Disease,Menstrual cycle-dependent periodic fever,Luteal-phase-dependent febrile episode|Luteal-phase-dependent periodic fever|Menstrual cycle-dependent febrile episode +GARD:0022018,Orphanet,ORPHA:498345,Group of disorders,Category,Biliary atresia and associated disorders, +GARD:0022019,Orphanet,ORPHA:498350,Group of disorders,Clinical group,Syndromic biliary atresia, +GARD:0022020,Orphanet,ORPHA:498445,Group of disorders,Category,Genetic inflammatory or rheumatoid-like osteoarthropathy, +GARD:0022021,Orphanet,ORPHA:498448,Group of disorders,Category,Overgrowth or tall stature syndrome with skeletal involvement, +GARD:0022022,Orphanet,ORPHA:498451,Group of disorders,Category,Dysostosis with brachydactyly without extraskeletal manifestations, +GARD:0022023,Orphanet,ORPHA:498454,Group of disorders,Category,Dysostosis with brachydactyly with extraskeletal manifestations, +GARD:0022024,Orphanet,ORPHA:498457,Group of disorders,Category,Longitudinal limb defect, +GARD:0022025,Orphanet,ORPHA:498461,Group of disorders,Category,Terminal transverse limb defect, +GARD:0022026,Orphanet,ORPHA:498464,Group of disorders,Category,Non-syndromic preaxial polydactyly, +GARD:0022027,Orphanet,ORPHA:498467,Group of disorders,Category,Non-syndromic postaxial polydactyly, +GARD:0022028,Orphanet,ORPHA:498470,Group of disorders,Category,Non-syndromic complex polydactyly, +GARD:0022029,Orphanet,ORPHA:498474,Disorder,Disease,Hyaline fibromatosis syndrome, +GARD:0022030,Orphanet,ORPHA:498477,Group of disorders,Category,Ectrodactyly with and without other manifestations, +GARD:0022031,Orphanet,ORPHA:498481,Disorder,Malformation syndrome,LRP5-related primary osteoporosis, +GARD:0022032,Orphanet,ORPHA:498488,Disorder,Malformation syndrome,Overgrowth syndrome with 2q37 translocation, +GARD:0022033,Orphanet,ORPHA:498491,Group of disorders,Category,Complete hemimelia, +GARD:0022034,Orphanet,ORPHA:498494,Disorder,Morphological anomaly,Mirror-image polydactyly, +GARD:0022035,Orphanet,ORPHA:498693,Disorder,Disease,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,MYBPC1-related autosomal recessive non-lethal AMC syndrome +GARD:0022036,Orphanet,ORPHA:499009,Disorder,Disease,Congenital syphilis,MTCT of syphilis|Mother-to-child transmission of syphilis +GARD:0022037,Orphanet,ORPHA:499047,Group of disorders,Clinical group,Autoimmune/inflammatory optic neuropathy, +GARD:0022038,Orphanet,ORPHA:499085,Disorder,Disease,Chronic relapsing inflammatory optic neuropathy,CRION|Chronic recurrent isolated optic neuritis +GARD:0022039,Orphanet,ORPHA:499096,Disorder,Disease,Isolated optic neuritis,ION +GARD:0022040,Orphanet,ORPHA:499103,Disorder,Disease,Recurrent idiopathic neuroretinitis,RINR +GARD:0022041,Orphanet,ORPHA:499107,Disorder,Disease,Idiopathic optic perineuritis,Idiopathic OPN +GARD:0022042,Orphanet,ORPHA:499182,Disorder,Disease,Pilomatrix carcinoma,Calcified epithelial carcinoma of Malherbe|Calcifying epitheliocarcinoma|Malignant pilomatricoma|Trichomatrical carcinoma +GARD:0022043,Orphanet,ORPHA:500163,Disorder,Malformation syndrome,Witteveen-Kolk syndrome,SIN3A-related intellectual disability syndrome|WITKOS +GARD:0022044,Orphanet,ORPHA:502305,Disorder,Morphological anomaly,Cochleovestibular malformation, +GARD:0022045,Orphanet,ORPHA:502318,Disorder,Morphological anomaly,Cochlear nerve deficiency, +GARD:0022046,Orphanet,ORPHA:502369,Group of disorders,Category,Squamous cell carcinoma of oral cavity and lip, +GARD:0022047,Orphanet,ORPHA:502430,Disorder,Malformation syndrome,Metopic ridging-ptosis-facial dysmorphism syndrome, +GARD:0022048,Orphanet,ORPHA:502437,Disorder,Malformation syndrome,4q25 proximal deletion syndrome,Proximal del(4)(q25)|Proximal monosomy 4q25 +GARD:0022049,Orphanet,ORPHA:502499,Disorder,Disease,Erythema multiforme major,Erythema exsudativum multiforme majus|Erythema multiforme majus +GARD:0022050,Orphanet,ORPHA:505208,Disorder,Disease,3-methylglutaconic aciduria type 8,MGA8 +GARD:0022051,Orphanet,ORPHA:505395,Disorder,Particular clinical situation in a disease or syndrome,Ventilator-induced diaphragmatic dysfunction,VIDD +GARD:0022052,Orphanet,ORPHA:506052,Group of disorders,Category,Neuroendocrine neoplasm of pancreas,PNEN|Pancreatic NEN|Pancreatic neuroendocrine neoplasm +GARD:0022053,Orphanet,ORPHA:506060,Group of disorders,Category,Functioning neuroendocrine tumor of pancreas,Functioning PNET|Functioning pancreatic NET|Functioning pancreatic neuroendocrine tumor|Functioning well-differentiated NEN of pancreas|Functioning well-differentiated neuroendocrine neoplasm of pancreas|Functioning well-differentiated pancreatic NEN|Functioning well-differentiated pancreatic neuroendocrine neoplasm +GARD:0022054,Orphanet,ORPHA:506075,Disorder,Disease,Non-functioning neuroendocrine tumor of pancreas,Non-functioning PNET|Non-functioning pancreatic NET|Non-functioning pancreatic neuroendocrine tumor|Non-functioning well-differentiated NEN of pancreas|Non-functioning well-differentiated neuroendocrine neoplasm of pancreas|Non-functioning well-differentiated pancreatic NEN|Non-functioning well-differentiated pancreatic neuroendocrine neoplasm +GARD:0022055,Orphanet,ORPHA:506090,Disorder,Disease,Serotonin-producing neuroendocrine tumor of pancreas,Serotonin-producing PNET|Serotonin-producing pancreatic NET|Serotonin-producing pancreatic neuroendocrine tumor +GARD:0022056,Orphanet,ORPHA:506098,Disorder,Disease,Neuroendocrine carcinoma of pancreas,Pancreatic NEC|Pancreatic neuroendocrine carcinoma|Poorly-differentiated NEN of pancreas|Poorly-differentiated neuroendocrine neoplasm of pancreas|Poorly-differentiated pancreatic NEN|Poorly-differentiated pancreatic neuroendocrine neoplasm +GARD:0022057,Orphanet,ORPHA:506112,Disorder,Disease,Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas,MiNEN of pancreas|Pancreatic MiNEN|Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm +GARD:0022058,Orphanet,ORPHA:506136,Disorder,Disease,Neuroendocrine neoplasm of esophagus,Esophageal NEN|Esophageal neuroendocrine neoplasm|NEN of esophagus +GARD:0022059,Orphanet,ORPHA:506207,Group of disorders,Category,Rare disorder potentially indicated for transplant, +GARD:0022060,Orphanet,ORPHA:506210,Group of disorders,Category,Rare disorder potentially indicated for liver transplant, +GARD:0022061,Orphanet,ORPHA:506213,Group of disorders,Category,Rare disorder potentially indicated for kidney transplant, +GARD:0022062,Orphanet,ORPHA:506216,Group of disorders,Category,Rare disorder potentially indicated for bowel transplant, +GARD:0022063,Orphanet,ORPHA:506219,Group of disorders,Category,Rare disorder potentially indicated for hematopoietic stem cell transplant, +GARD:0022064,Orphanet,ORPHA:506222,Group of disorders,Category,Rare disorder potentially indicated for lung transplant, +GARD:0022065,Orphanet,ORPHA:506225,Group of disorders,Category,Rare disorder potentially indicated for heart transplant, +GARD:0022066,Orphanet,ORPHA:506784,Subtype of disorder,Clinical subtype,Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome,SJS/TEN overlap syndrome|Stevens-Johnson/TEN overlap syndrome|Stevens-Johnson/toxic epidermal necrolysis overlap syndrome +GARD:0022067,Orphanet,ORPHA:508410,Disorder,Morphological anomaly,Familial intestinal malrotation, +GARD:0022068,Orphanet,ORPHA:508476,Disorder,Malformation syndrome,Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome|Hyaluronidase 2 deficiency +GARD:0022069,Orphanet,ORPHA:508501,Disorder,Malformation syndrome,Oral-facial-digital syndrome with short stature and brachymesophalangy,OFD18|Oral-facial-digital syndrome type 18|Orofaciodigital syndrome type 18 +GARD:0022070,Orphanet,ORPHA:508533,Disorder,Disease,Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,EXTL3-related neuro-immuno-skeletal dysplasia syndrome|Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency +GARD:0022071,Orphanet,ORPHA:508542,Disorder,Disease,Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,MYSM1 deficiency +GARD:0022072,Orphanet,ORPHA:512017,Disorder,Disease,Chronic lymphoproliferative disorder of natural killer cells,CLPD-NK|CNKL|Chronic NK lymphocytosis|Chronic NK-cell lymphocytosis|Chronic lymphoproliferative disorder of NK-cells|NK-cell lineage granular lymphocyte proliferative disorder +GARD:0022073,Orphanet,ORPHA:512034,Group of disorders,Clinical group,Large granular lymphocyte leukemia, +GARD:0022074,Orphanet,ORPHA:512103,Disorder,Disease,Autosomal recessive epidermolytic ichthyosis,AREI +GARD:0022075,Orphanet,ORPHA:512260,Disorder,Disease,Congenital cerebellar ataxia due to RNU12 mutation, +GARD:0022076,Orphanet,ORPHA:514352,Disorder,Malformation syndrome,Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome,Serpentine-like syndrome +GARD:0022077,Orphanet,ORPHA:514980,Group of disorders,Clinical group,ATP13A2-related parkinsonism, +GARD:0022078,Orphanet,ORPHA:519264,Group of disorders,Category,Inflammatory/autoimmune disorder involving the lacrimal system, +GARD:0022079,Orphanet,ORPHA:519266,Group of disorders,Category,Rare disorder of the ocular adnexa, +GARD:0022080,Orphanet,ORPHA:519268,Group of disorders,Category,Rare disorder with ectropion, +GARD:0022081,Orphanet,ORPHA:519270,Group of disorders,Category,Rare disorder with entropion, +GARD:0022082,Orphanet,ORPHA:519272,Group of disorders,Category,Structural developmental eye defect, +GARD:0022083,Orphanet,ORPHA:519274,Group of disorders,Category,Syndromic lacrimal system disorder, +GARD:0022084,Orphanet,ORPHA:519276,Group of disorders,Category,Anterior segment developmental abnormality with extraocular manifestations, +GARD:0022085,Orphanet,ORPHA:519278,Group of disorders,Category,Infective keratitis, +GARD:0022086,Orphanet,ORPHA:519280,Group of disorders,Category,Rare conjunctivitis, +GARD:0022087,Orphanet,ORPHA:519282,Group of disorders,Category,Rare corneal disorder, +GARD:0022088,Orphanet,ORPHA:519284,Group of disorders,Category,Rare disorder of the anterior segment of the eye, +GARD:0022089,Orphanet,ORPHA:519286,Group of disorders,Category,Rare disorder of the pupil, +GARD:0022090,Orphanet,ORPHA:519288,Group of disorders,Category,Rare disorder with corneal involvement as a major feature, +GARD:0022091,Orphanet,ORPHA:519290,Group of disorders,Category,Rare inflammatory/autoimmune corneal disorder, +GARD:0022092,Orphanet,ORPHA:519292,Group of disorders,Category,Syndromic ectopia lentis, +GARD:0022093,Orphanet,ORPHA:519294,Group of disorders,Category,Syndromic microspherophakia, +GARD:0022094,Orphanet,ORPHA:519296,Group of disorders,Category,Rare disorder with pigmented sclera, +GARD:0022095,Orphanet,ORPHA:519298,Group of disorders,Category,Rare scleral disorder, +GARD:0022096,Orphanet,ORPHA:519300,Group of disorders,Category,Isolated chorioretinal dystrophy, +GARD:0022097,Orphanet,ORPHA:519302,Group of disorders,Category,Isolated macular dystrophy, +GARD:0022098,Orphanet,ORPHA:519304,Group of disorders,Category,Isolated vitreoretinopathy, +GARD:0022099,Orphanet,ORPHA:519306,Group of disorders,Category,Isolated progressive inherited retinal disorder, +GARD:0022100,Orphanet,ORPHA:519309,Group of disorders,Category,Rare choroidal disorder, +GARD:0022101,Orphanet,ORPHA:519311,Group of disorders,Category,Rare disorder of the posterior segment of the eye, +GARD:0022102,Orphanet,ORPHA:519313,Group of disorders,Category,Rare macular disorder, +GARD:0022103,Orphanet,ORPHA:519315,Group of disorders,Category,Rare retinal disorder, +GARD:0022104,Orphanet,ORPHA:519317,Group of disorders,Category,Rare retinal vasculopathy, +GARD:0022105,Orphanet,ORPHA:519319,Group of disorders,Category,Isolated stationary inherited retinal disorder, +GARD:0022106,Orphanet,ORPHA:519321,Group of disorders,Category,Syndromic chorioretinal dystrophy, +GARD:0022107,Orphanet,ORPHA:519323,Group of disorders,Category,Syndromic macular dystrophy, +GARD:0022108,Orphanet,ORPHA:519325,Group of disorders,Category,Syndromic inherited retinal disorder,Syndromic retinal dystrophy +GARD:0022109,Orphanet,ORPHA:519327,Group of disorders,Category,Syndromic vitreoretinopathy, +GARD:0022110,Orphanet,ORPHA:519329,Group of disorders,Category,Rare disorder involving multiple structures of the eye, +GARD:0022111,Orphanet,ORPHA:519331,Group of disorders,Category,Secondary early-onset glaucoma, +GARD:0022112,Orphanet,ORPHA:519333,Group of disorders,Category,Congenital optic disc excavation, +GARD:0022113,Orphanet,ORPHA:519337,Group of disorders,Category,Disorder with optic nerve compression, +GARD:0022114,Orphanet,ORPHA:519339,Group of disorders,Category,Pseudopapilledema, +GARD:0022115,Orphanet,ORPHA:519341,Group of disorders,Category,Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature, +GARD:0022116,Orphanet,ORPHA:519343,Group of disorders,Category,Rare ophthalmic disorder with cortical involvement, +GARD:0022117,Orphanet,ORPHA:519345,Group of disorders,Category,Rare disorder with optic disc malformation, +GARD:0022118,Orphanet,ORPHA:519347,Group of disorders,Category,Rare neuromuscular disorder with ocular motility/alignment anomaly, +GARD:0022119,Orphanet,ORPHA:519349,Group of disorders,Category,Rare ophthalmic disorder with cranial nerve involvement, +GARD:0022120,Orphanet,ORPHA:519351,Group of disorders,Category,Rare optic nerve disorder, +GARD:0022121,Orphanet,ORPHA:519353,Group of disorders,Category,Rare trochlear nerve disorder, +GARD:0022122,Orphanet,ORPHA:519355,Group of disorders,Category,Rare ocular motility/alignment disorder, +GARD:0022123,Orphanet,ORPHA:519386,Disorder,Morphological anomaly,Isolated congenital entropion, +GARD:0022124,Orphanet,ORPHA:519390,Disorder,Disease,Isolated blepharochalasis, +GARD:0022125,Orphanet,ORPHA:519392,Disorder,Disease,Isolated iridoschisis, +GARD:0022126,Orphanet,ORPHA:519396,Disorder,Morphological anomaly,Isolated microspherophakia, +GARD:0022127,Orphanet,ORPHA:519398,Disorder,Morphological anomaly,Isolated foveal hypoplasia, +GARD:0022128,Orphanet,ORPHA:519400,Disorder,Morphological anomaly,Peripapillary staphyloma, +GARD:0022129,Orphanet,ORPHA:519402,Disorder,Morphological anomaly,Isolated megalopapilla, +GARD:0022130,Orphanet,ORPHA:519404,Disorder,Morphological anomaly,Optic disc pit, +GARD:0022131,Orphanet,ORPHA:519406,Disorder,Disease,Thygeson superficial punctate keratitis,Thygeson superficial punctate keratopathy +GARD:0022132,Orphanet,ORPHA:519408,Disorder,Disease,Mooren ulcer, +GARD:0022133,Orphanet,ORPHA:519410,Disorder,Disease,Terrien marginal degeneration, +GARD:0022134,Orphanet,ORPHA:519930,Disorder,Disease,Fungal keratitis,Keratomycosis|Mycotic keratitis +GARD:0022135,Orphanet,ORPHA:520814,Group of disorders,Category,Rare disorder of the visual organs, +GARD:0022136,Orphanet,ORPHA:520817,Group of disorders,Category,Isolated inherited retinal disorder, +GARD:0022137,Orphanet,ORPHA:521123,Disorder,Disease,Radiation-induced plexopathy, +GARD:0022138,Orphanet,ORPHA:521127,Disorder,Disease,Osteoradionecrosis of the mandible, +GARD:0022139,Orphanet,ORPHA:521132,Group of disorders,Category,Radiation-induced disorder, +GARD:0022140,Orphanet,ORPHA:521232,Group of disorders,Category,Genetic primary orthostatic disorder, +GARD:0022141,Orphanet,ORPHA:521236,Group of disorders,Category,Primary orthostatic disorder, +GARD:0022142,Orphanet,ORPHA:521308,Disorder,Malformation syndrome,Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome, +GARD:0022143,Orphanet,ORPHA:521411,Disorder,Disease,Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,Autosomal recessive axonal CMT due to copper metabolism defect +GARD:0022144,Orphanet,ORPHA:521432,Disorder,Disease,Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome, +GARD:0022145,Orphanet,ORPHA:521445,Disorder,Malformation syndrome,Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome, +GARD:0022146,Orphanet,ORPHA:521450,Disorder,Disease,LAMA5-related multisystemic syndrome, +GARD:0022147,Orphanet,ORPHA:522037,Disorder,Disease,Primary autoimmune enteropathy, +GARD:0022148,Orphanet,ORPHA:522043,Group of disorders,Clinical group,Syndromic autoimmune enteropathy, +GARD:0022149,Orphanet,ORPHA:522504,Group of disorders,Category,Rare genetic disorder of the visual organs, +GARD:0022150,Orphanet,ORPHA:522506,Group of disorders,Category,Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature, +GARD:0022151,Orphanet,ORPHA:522508,Group of disorders,Category,Rare genetic ophthalmic disorder with cortical involvement, +GARD:0022152,Orphanet,ORPHA:522510,Group of disorders,Category,Rare genetic ophthalmic disorder with cranial nerve involvement, +GARD:0022153,Orphanet,ORPHA:522512,Group of disorders,Category,Rare genetic optic nerve disorder, +GARD:0022154,Orphanet,ORPHA:522514,Group of disorders,Category,Congenital optic disc excavation of genetic origin, +GARD:0022155,Orphanet,ORPHA:522516,Group of disorders,Category,Rare genetic ocular motility/alignment disorder, +GARD:0022156,Orphanet,ORPHA:522518,Group of disorders,Category,Rare genetic disorder with strabismus, +GARD:0022157,Orphanet,ORPHA:522520,Group of disorders,Category,Syndromic genetic disorder with strabismus, +GARD:0022158,Orphanet,ORPHA:522522,Group of disorders,Category,Rare genetic neuromuscular disorder with ocular motility/alignment anomaly, +GARD:0022159,Orphanet,ORPHA:522524,Group of disorders,Category,Rare genetic disorder of the ocular adnexa, +GARD:0022160,Orphanet,ORPHA:522526,Group of disorders,Category,Rare genetic palpebral disorder, +GARD:0022161,Orphanet,ORPHA:522528,Group of disorders,Category,Rare genetic eyelid malposition disorder, +GARD:0022162,Orphanet,ORPHA:522530,Group of disorders,Category,Rare genetic disorder with entropion, +GARD:0022163,Orphanet,ORPHA:522532,Group of disorders,Category,Rare genetic disorder of the lacrimal apparatus, +GARD:0022164,Orphanet,ORPHA:522534,Group of disorders,Category,Lacrimal drainage system anomaly of genetic origin, +GARD:0022165,Orphanet,ORPHA:522536,Group of disorders,Category,Structural developmental eye defect of genetic origin, +GARD:0022166,Orphanet,ORPHA:522538,Group of disorders,Category,Rare genetic disorder of the anterior segment of the eye, +GARD:0022167,Orphanet,ORPHA:522540,Group of disorders,Category,Anterior segment developmental anomaly of genetic origin, +GARD:0022168,Orphanet,ORPHA:522542,Group of disorders,Category,Rare genetic disorder with conjunctival involvement as a major feature, +GARD:0022169,Orphanet,ORPHA:522546,Group of disorders,Category,Rare genetic disorder with lens opacification, +GARD:0022170,Orphanet,ORPHA:522548,Group of disorders,Category,Syndromic genetic cataract, +GARD:0022171,Orphanet,ORPHA:522550,Group of disorders,Category,Lens size anomaly of genetic origin, +GARD:0022172,Orphanet,ORPHA:522552,Group of disorders,Category,Lens position anomaly of genetic origin, +GARD:0022173,Orphanet,ORPHA:522554,Group of disorders,Category,Syndromic genetic ectopia lentis, +GARD:0022174,Orphanet,ORPHA:522556,Group of disorders,Category,Rare genetic corneal disorder, +GARD:0022175,Orphanet,ORPHA:522558,Group of disorders,Category,Rare genetic disorder with corneal involvement as a major feature, +GARD:0022176,Orphanet,ORPHA:522560,Group of disorders,Category,Genetic corneal dystrophy, +GARD:0022177,Orphanet,ORPHA:522562,Group of disorders,Category,Genetic superficial corneal dystrophy, +GARD:0022178,Orphanet,ORPHA:522564,Group of disorders,Category,Syndromic genetic keratoconus, +GARD:0022179,Orphanet,ORPHA:522566,Group of disorders,Category,Rare genetic inflammatory/autoimmune corneal disorder, +GARD:0022180,Orphanet,ORPHA:522568,Group of disorders,Category,Rare genetic disorder of the pupil, +GARD:0022181,Orphanet,ORPHA:522570,Group of disorders,Category,Rare genetic disorder of the posterior segment of the eye, +GARD:0022182,Orphanet,ORPHA:522572,Group of disorders,Category,Rare genetic retinal disorder, +GARD:0022183,Orphanet,ORPHA:522574,Group of disorders,Category,Rare genetic macular disorder, +GARD:0022184,Orphanet,ORPHA:522576,Group of disorders,Category,Rare genetic retinal vasculopathy, +GARD:0022185,Orphanet,ORPHA:522578,Group of disorders,Category,Rare genetic disorder involving multiple structures of the eye, +GARD:0022186,Orphanet,ORPHA:522580,Group of disorders,Category,Secondary early-onset glaucoma of genetic origin, +GARD:0022187,Orphanet,ORPHA:522584,Group of disorders,Category,Rare genetic choroidal disorder, +GARD:0022188,Orphanet,ORPHA:523000,Group of disorders,Category,Pediatric-onset glaucoma, +GARD:0022189,Orphanet,ORPHA:525677,Group of disorders,Category,Genetic congenital malformation of the eye with glaucoma as a major feature, +GARD:0022190,Orphanet,ORPHA:525731,Disorder,Disease,Pediatric-onset Graves disease,Pediatric-onset Basedow disease +GARD:0022191,Orphanet,ORPHA:525738,Disorder,Disease,Prepubertal anorexia nervosa, +GARD:0022192,Orphanet,ORPHA:527276,Disorder,Disease,Encephalopathy due to mitochondrial and peroxisomal fission defect, +GARD:0022193,Orphanet,ORPHA:527468,Disorder,Malformation syndrome,Diaphragmatic hernia-short bowel-asplenia syndrome, +GARD:0022194,Orphanet,ORPHA:528623,Disorder,Disease,Hereditary angioedema with C1Inh deficiency,HAE with C1 inhibitor deficiency|HAE with C1Inh deficiency|Hereditary angioneurotic edema with C1 inhibitor deficiency|Hereditary angioneurotic edema with C1Inh deficiency +GARD:0022195,Orphanet,ORPHA:528647,Disorder,Disease,Hereditary angioedema with normal C1Inh,HAE with normal C1 inhibitor|HAE with normal C1Inh|Hereditary angioedema with normal C1 inhibitor|Hereditary angioneurotic edema with normal C1 inhibitor|Hereditary angioneurotic edema with normal C1Inh +GARD:0022196,Orphanet,ORPHA:528663,Disorder,Disease,Acquired angioedema with C1Inh deficiency,Acquired angioneurotic edema with C1 inhibitor deficiency|Acquired angioneurotic edema with C1Inh deficiency +GARD:0022197,Orphanet,ORPHA:529799,Disorder,Clinical syndrome,Acute bilirubin encephalopathy,ABE|Acute kernicterus +GARD:0022198,Orphanet,ORPHA:529808,Disorder,Clinical syndrome,Chronic bilirubin encephalopathy,BIND|Bilirubin-induced neurological dysfunction|CBE|KSD|Kernicterus spectrum disorder +GARD:0022199,Orphanet,ORPHA:529831,Disorder,Particular clinical situation in a disease or syndrome,Letrozole toxicity, +GARD:0022200,Orphanet,ORPHA:529852,Disorder,Disease,Combined hepatocellular carcinoma and cholangiocarcinoma,Combined HCC-CC|Combined hepatocellular-cholangiocarcinoma|Hepatocholangiocarcinoma|cHCC-CC +GARD:0022201,Orphanet,ORPHA:529864,Disorder,Disease,Secondary erythromelalgia,Secondary erythermalgia +GARD:0022202,Orphanet,ORPHA:529962,Disorder,Malformation syndrome,17q24.2 microdeletion syndrome,Del(17)(q24) +GARD:0022203,Orphanet,ORPHA:529974,Group of disorders,Clinical group,Immune dysregulation with inflammatory bowel disease, +GARD:0022204,Orphanet,ORPHA:529977,Disorder,Disease,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome, +GARD:0022205,Orphanet,ORPHA:529980,Disorder,Disease,Inflammatory bowel disease-recurrent sinopulmonary infections syndrome,NFAT5 haploinsufficiency +GARD:0022206,Orphanet,ORPHA:530033,Disorder,Morphological anomaly,Dermoid or epidermoid cyst of the central nervous system,Dermoid or epidermoid cyst of the CNS +GARD:0022207,Orphanet,ORPHA:530298,Subtype of disorder,Clinical subtype,Progressive myoclonic epilepsy with neuroserpin inclusion bodies,Early onset familial encephalopathy with neuroserpin inclusion bodies +GARD:0022208,Orphanet,ORPHA:530303,Subtype of disorder,Clinical subtype,Progressive dementia with neuroserpin inclusion bodies,Late-onset familial encephalopathy with neuroserpin inclusion bodies +GARD:0022209,Orphanet,ORPHA:530313,Group of disorders,Clinical group,PIK3CA-related overgrowth syndrome,PROS +GARD:0022210,Orphanet,ORPHA:530792,Disorder,Disease,RELA fusion-positive ependymoma,Supratentorial C11ORF95-RELA fused ependymoma +GARD:0022211,Orphanet,ORPHA:530983,Disorder,Disease,Lamb-Shaffer syndrome,SOX5 haploinsufficiency syndrome +GARD:0022212,Orphanet,ORPHA:531151,Disorder,Malformation syndrome,9q21.13 microdeletion syndrome, +GARD:0022213,Orphanet,ORPHA:536391,Group of disorders,Clinical group,RASopathy, +GARD:0022214,Orphanet,ORPHA:536471,Disorder,Disease,Spondylodysplastic Ehlers-Danlos syndrome,Spondylodysplastic EDS|spEDS +GARD:0022215,Orphanet,ORPHA:536516,Disorder,Disease,Myopathic Ehlers-Danlos syndrome,EDS/myopathy overlap syndrome|Myopathic EDS +GARD:0022216,Orphanet,ORPHA:1900,Subtype of disorder,Clinical subtype,Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,Cutis hyperelastica|EDS VIA|Ehlers-Danlos syndrome type 6A|Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency|Lysyl hydroxylase-deficient EDS|Ocular-scoliotic EDS|kEDS-PLOD1 +GARD:0022217,Orphanet,ORPHA:537072,Subtype of disorder,Clinical subtype,PLG-related hereditary angioedema with normal C1Inh,PLG-related HAE with normal C1 inhibitor +GARD:0022218,Orphanet,ORPHA:538101,Disorder,Disease,Congenital axonal neuropathy with encephalopathy, +GARD:0022219,Orphanet,ORPHA:538238,Group of disorders,Category,Neurological channelopathy of the central nervous system due to a genetic chloride channel defect, +GARD:0022220,Orphanet,ORPHA:538863,Subtype of disorder,Clinical subtype,Classic pyoderma gangrenosum,Ulcerative pyoderma gangrenosum +GARD:0022221,Orphanet,ORPHA:538866,Subtype of disorder,Clinical subtype,Pustular pyoderma gangrenosum, +GARD:0022222,Orphanet,ORPHA:538869,Subtype of disorder,Clinical subtype,Bullous pyoderma gangrenosum,Phemphigoid pyoderma gangrenosum +GARD:0022223,Orphanet,ORPHA:538872,Subtype of disorder,Clinical subtype,Vegetative pyoderma gangrenosum,Granulomatous pyoderma gangrenosum +GARD:0022224,Orphanet,ORPHA:541443,Disorder,Morphological anomaly,Anomalous aortic origin of the left coronary artery,AOLCA|L-ACAOS|Left coronary artery from right aortic sinus +GARD:0022225,Orphanet,ORPHA:541454,Disorder,Morphological anomaly,Anomalous aortic origin of the right coronary artery,AORCA|R-ACAOS|Right coronary artery from left aortic sinus +GARD:0022226,Orphanet,ORPHA:541478,Group of disorders,Clinical group,Anomalous aortic origin of coronary artery,AAOCA +GARD:0022227,Orphanet,ORPHA:541507,Disorder,Morphological anomaly,Anomalous origin of coronary artery from the pulmonary artery,ACAPA +GARD:0022228,Orphanet,ORPHA:542323,Disorder,Particular clinical situation in a disease or syndrome,CAR T cell therapy-associated cytokine release syndrome,CAR T cell therapy-associated CRS|Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome +GARD:0022229,Orphanet,ORPHA:542568,Disorder,Morphological anomaly,Quadricuspid aortic valve, +GARD:0022230,Orphanet,ORPHA:542822,Group of disorders,Clinical group,Anomaly of the coronary ostia, +GARD:0022231,Orphanet,ORPHA:543470,Disorder,Disease,Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, +GARD:0022232,Orphanet,ORPHA:544254,Disorder,Disease,SYNGAP1-related developmental and epileptic encephalopathy,SYNGAP1-related DEE +GARD:0022233,Orphanet,ORPHA:544458,Group of disorders,Clinical group,Hemolytic uremic syndrome,HUS +GARD:0022234,Orphanet,ORPHA:544482,Disorder,Disease,Infection-related hemolytic uremic syndrome,Infection-related HUS +GARD:0022235,Orphanet,ORPHA:544493,Subtype of disorder,Clinical subtype,Streptococcus pneumoniae-associated hemolytic uremic syndrome,S. pneumoniae-associated HUS|SP-HUS +GARD:0022236,Orphanet,ORPHA:544578,Subtype of disorder,Clinical subtype,"Congenital primary megaureter, refluxing and obstructed form", +GARD:0022237,Orphanet,ORPHA:544590,Group of disorders,Category,Collagen-related glomerular basement membrane disease, +GARD:0022238,Orphanet,ORPHA:544628,Disorder,Disease,Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome, +GARD:0022239,Orphanet,ORPHA:555434,Subtype of disorder,Clinical subtype,Fibrohistiocytic inflammatory pseudotumor of the liver, +GARD:0022240,Orphanet,ORPHA:555437,Subtype of disorder,Clinical subtype,Lymphoplasmacytic inflammatory pseudotumor of the liver,IgG4-related inflammatory pseudotumor of the liver +GARD:0022241,Orphanet,ORPHA:555874,Disorder,Morphological anomaly,Congenital tricuspid valve dysplasia, +GARD:0022242,Orphanet,ORPHA:555905,Disorder,Disease,IgA pemphigus, +GARD:0022243,Orphanet,ORPHA:556030,Subtype of disorder,Clinical subtype,Early-onset familial hypoaldosteronism,Early-onset familial hyperreninemic hypoaldosteronism|Severe aldosterone synthase deficiency +GARD:0022244,Orphanet,ORPHA:556037,Subtype of disorder,Clinical subtype,Late-onset familial hypoaldosteronism,Late-onset familial hyperreninemic hypoaldosteronism|Mild aldosterone synthase deficiency +GARD:0022245,Orphanet,ORPHA:556508,Group of disorders,Category,Rare disorder due to poisoning, +GARD:0022246,Orphanet,ORPHA:556985,Disorder,Disease,Early-onset calcifying leukoencephalopathy-skeletal dysplasia, +GARD:0022247,Orphanet,ORPHA:557056,Disorder,Disease,Spastic ataxia-dysarthria due to glutaminase deficiency, +GARD:0022248,Orphanet,ORPHA:557866,Group of disorders,Category,Rare disorder with Hirschsprung disease as a major feature, +GARD:0022249,Orphanet,ORPHA:558411,Disorder,Disease,Idiopathic gastroparesis, +GARD:0022250,Orphanet,ORPHA:562639,Disorder,Disease,Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome,Overlap syndromes of autoimmune liver diseases|PBC/PSC and AIH overlap syndrome +GARD:0022251,Orphanet,ORPHA:563576,Subtype of disorder,Clinical subtype,Autoimmune hepatitis type 1,AIH type 1 +GARD:0022252,Orphanet,ORPHA:563581,Subtype of disorder,Clinical subtype,Autoimmune hepatitis type 2,AIH type 2 +GARD:0022253,Orphanet,ORPHA:563589,Subtype of disorder,Clinical subtype,Seronegative autoimmune hepatitis,Autoantibody-negative autoimmune hepatitis|Seronegative AIH +GARD:0022254,Orphanet,ORPHA:563609,Subtype of disorder,Clinical subtype,Isolated anencephaly, +GARD:0022255,Orphanet,ORPHA:563612,Subtype of disorder,Clinical subtype,Isolated exencephaly, +GARD:0022256,Orphanet,ORPHA:563666,Subtype of disorder,Histopathological subtype,Serous cystadenoma of childhood,Serous cystadenoma of ovary in childhood +GARD:0022257,Orphanet,ORPHA:563671,Subtype of disorder,Histopathological subtype,Mucinous cystadenoma of childhood,Mucinous cystadenoma of ovary in childhood +GARD:0022258,Orphanet,ORPHA:563676,Subtype of disorder,Histopathological subtype,Seromucinous cystadenoma of childhood,Seromucinous cystadenoma of ovary in childhood +GARD:0022259,Orphanet,ORPHA:563684,Subtype of disorder,Clinical subtype,Furuncular myiasis due to Dermatobia hominis,Furunculoid myiasis due to Dermatobia hominis|Furunculous myiasis due to Dermatobia hominis +GARD:0022260,Orphanet,ORPHA:563687,Subtype of disorder,Clinical subtype,Furuncular myiasis due to Cordylobia anthropophaga,Furunculoid myiasis due to Cordylobia anthropophaga|Furunculous myiasis due to Cordylobia anthropophaga +GARD:0022261,Orphanet,ORPHA:563690,Subtype of disorder,Clinical subtype,Furuncular myiasis due to Cordylobia rodhaini,Furunculoid myiasis due to Cordylobia rodhaini|Furunculous myiasis due to Cordylobia rodhaini +GARD:0022262,Orphanet,ORPHA:563708,Disorder,Disease,Syndromic congenital sodium diarrhea,Syndromic congenital tufting enteropathy +GARD:0022263,Orphanet,ORPHA:563951,Subtype of disorder,Clinical subtype,Isolated congenital aglossia, +GARD:0022264,Orphanet,ORPHA:563954,Subtype of disorder,Clinical subtype,Isolated congenital hypoglossia, +GARD:0022265,Orphanet,ORPHA:564127,Group of disorders,Clinical group,Genetic nephrotic syndrome,Hereditary nephrotic syndrome +GARD:0022266,Orphanet,ORPHA:564178,Disorder,Disease,Primary hypomagnesemia-refractory seizures-intellectual disability syndrome, +GARD:0022267,Orphanet,ORPHA:565612,Disorder,Disease,Triglyceride deposit cardiomyovasculopathy,Neutral lipid storage disease with severe cardiovascular involvement|TGCV +GARD:0022268,Orphanet,ORPHA:565641,Disorder,Disease,Primary desmosis coli,Aplastic desmosis coli +GARD:0022269,Orphanet,ORPHA:565782,Disorder,Disease,Methotrexate toxicity, +GARD:0022270,Orphanet,ORPHA:565837,Disorder,Disease,Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23,LGMD type R23|Laminin subunit alpha 2-related LGMD R23|Laminin subunit alpha 2-related late-onset muscular dystrophy +GARD:0022271,Orphanet,ORPHA:565899,Disorder,Disease,POMGNT2-related limb-girdle muscular dystrophy R24,LGMD type R24|Limb-girdle muscular dystrophy type R24|POMGNT2-related LGMD R24|POMGNT2-related muscular dystrophy +GARD:0022272,Orphanet,ORPHA:565909,Disorder,Disease,Calpain-3-related limb-girdle muscular dystrophy D4,LGMD type D4|LGMD1I|Limb-girdle muscular dystrophy type D4 +GARD:0022273,Orphanet,ORPHA:566067,Disorder,Disease,CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,CAIN +GARD:0022274,Orphanet,ORPHA:566192,Disorder,Disease,Congenital autosomal recessive small-platelet thrombocytopenia,CARST +GARD:0022275,Orphanet,ORPHA:566231,Disorder,Disease,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,RTHa|Resistance to thyroid hormone alpha|Resistance to thyroid hormone due to a mutation in TRa +GARD:0022276,Orphanet,ORPHA:566393,Subtype of disorder,Clinical subtype,Acute mast cell leukemia,Acute MCL +GARD:0022277,Orphanet,ORPHA:566396,Subtype of disorder,Clinical subtype,Chronic mast cell leukemia,Chronic MCL +GARD:0022278,Orphanet,ORPHA:566841,Disorder,Disease,Liver adenomatosis,Hepatic adenomatosis +GARD:0022279,Orphanet,ORPHA:566847,Disorder,Morphological anomaly,Aprosencephaly/atelencephaly spectrum,AP/AT spectum +GARD:0022280,Orphanet,ORPHA:566852,Subtype of disorder,Clinical subtype,Atelencephaly,Atelencephalic microcephaly +GARD:0022281,Orphanet,ORPHA:566857,Subtype of disorder,Clinical subtype,Aprosencephaly, +GARD:0022282,Orphanet,ORPHA:566862,Disorder,Malformation syndrome,Left sided atrial isomerism,Isomerism of left atrial appendage|LAI +GARD:0022283,Orphanet,ORPHA:566943,Disorder,Disease,Mueller-Weiss syndrome,Brailsford disease|Mueller-Weiss osteonecrosis of the tarsal bone +GARD:0022284,Orphanet,ORPHA:567502,Disorder,Disease,B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome,BILU syndrome|Hoffman syndrome +GARD:0022285,Orphanet,ORPHA:567544,Disorder,Clinical syndrome,Idiopathic non-lupus full-house nephropathy,Idiopathic non-lupus FHN +GARD:0022286,Orphanet,ORPHA:567546,Disorder,Clinical syndrome,Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance,Idiopathic SSNS with secondary steroid resistance|Secondary SRNS|Secondary steroid-resistant nephrotic syndrome +GARD:0022287,Orphanet,ORPHA:567550,Subtype of disorder,Clinical subtype,Idiopathic multidrug-resistant nephrotic syndrome, +GARD:0022288,Orphanet,ORPHA:567552,Subtype of disorder,Clinical subtype,Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy,Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression +GARD:0022289,Orphanet,ORPHA:567554,Group of disorders,Category,Systemic disease with glomerulopathy as a major feature, +GARD:0022290,Orphanet,ORPHA:567556,Group of disorders,Category,Genetic systemic disease with glomerulopathy as a major feature, +GARD:0022291,Orphanet,ORPHA:567558,Group of disorders,Category,Non-genetic systemic disease with glomerulopathy as a major feature, +GARD:0022292,Orphanet,ORPHA:567560,Group of disorders,Category,Systemic vasculitis associated with glomerulopathy, +GARD:0022293,Orphanet,ORPHA:567562,Group of disorders,Category,Disorder with multisystemic involvement and glomerulopathy, +GARD:0022294,Orphanet,ORPHA:567564,Group of disorders,Category,Nephrotic syndrome without extrarenal manifestations, +GARD:0022295,Orphanet,ORPHA:567983,Disorder,Particular clinical situation in a disease or syndrome,Parenteral nutrition-associated cholestasis,PNAC +GARD:0022296,Orphanet,ORPHA:568041,Group of disorders,Category,Primary lymphedema without systemic or visceral involvement, +GARD:0022297,Orphanet,ORPHA:568044,Group of disorders,Category,Primary lymphedema with systemic or visceral involvement, +GARD:0022298,Orphanet,ORPHA:568047,Group of disorders,Category,Disorder with multisystemic involvement and primary lymphedema, +GARD:0022299,Orphanet,ORPHA:568051,Disorder,Disease,GJC2-related late-onset primary lymphedema, +GARD:0022300,Orphanet,ORPHA:568056,Disorder,Disease,Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome,Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome|WILD syndrome +GARD:0022301,Orphanet,ORPHA:568062,Disorder,Disease,PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,Generalized lymphatic dysplasia of Fotiou|PIEZO1-related LRHF/GLD|PIEZO1-related generalized lymphatic dysplasia with systemic involvement|PIEZO1-related lymphatic-related hydrops fetalis +GARD:0022302,Orphanet,ORPHA:568065,Disorder,Disease,EPHB4-related lymphatic-related hydrops fetalis,EPHB4-related LRHF/GLD|EPHB4-related generalized lymphatic dysplasia with atrial septal defect|EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis +GARD:0022303,Orphanet,ORPHA:569164,Disorder,Disease,Angiomatoid fibrous histiocytoma,AFH +GARD:0022304,Orphanet,ORPHA:569248,Disorder,Disease,Microcystic stromal tumor,MCST +GARD:0022305,Orphanet,ORPHA:569274,Disorder,Disease,Multiple mitochondrial dysfunctions syndrome type 5,ISCA1 deficiency|MMDS5 +GARD:0022306,Orphanet,ORPHA:569816,Disorder,Disease,CELSR1-related late-onset primary lymphedema, +GARD:0022307,Orphanet,ORPHA:569821,Disorder,Disease,Congenital primary lymphedema of Gordon,VEGFC-related congenital primary lymphedema +GARD:0022308,Orphanet,ORPHA:570371,Subtype of disorder,Clinical subtype,Bartter syndrome type 5,Bartter syndrome type V|Transient antenatal Bartter syndrome +GARD:0022309,Orphanet,ORPHA:570431,Subtype of disorder,Clinical subtype,Idiopathic multicentric Castleman disease,HHV-8-negative multicentric Castleman disease|Human herpesvirus-8-negative multicentric Castleman disease +GARD:0022310,Orphanet,ORPHA:570438,Subtype of disorder,Clinical subtype,HHV-8-associated multicentric Castleman disease,Human herpesvirus-8-associated multicentric Castleman disease +GARD:0022311,Orphanet,ORPHA:570470,Disorder,Disease,Ricin poisoning, +GARD:0022312,Orphanet,ORPHA:572333,Disorder,Malformation syndrome,Blepharophimosis-ptosis-epicanthus inversus syndrome plus,3q23 microdeletion syndrome|BPES plus +GARD:0022313,Orphanet,ORPHA:572428,Disorder,Disease,Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,OAS1 deficiency|OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia +GARD:0022314,Orphanet,ORPHA:572761,Disorder,Malformation syndrome,DONSON-related microcephaly-short stature-limb abnormalities spectrum, +GARD:0022315,Orphanet,ORPHA:573163,Group of disorders,Clinical group,Pheochromocytoma-paraganglioma, +GARD:0022316,Orphanet,ORPHA:573253,Subtype of disorder,Clinical subtype,Split cord malformation type II,SCM type 2|SCM type II|Split cord malformation type 2 +GARD:0022317,Orphanet,ORPHA:573278,Disorder,Morphological anomaly,Split cord malformation,SCM +GARD:0022318,Orphanet,ORPHA:574918,Disorder,Disease,Predisposition to severe viral infection due to IRF7 deficiency, +GARD:0022319,Orphanet,ORPHA:574957,Disorder,Disease,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency,Autosomal recessive MSMD due to partial JAK1 deficiency +GARD:0022320,Orphanet,ORPHA:575553,Disorder,Disease,Cathepsin A-related arteriopathy-strokes-leukoencephalopathy,CARASAL +GARD:0022321,Orphanet,ORPHA:576074,Disorder,Disease,Middle East respiratory syndrome,MERS +GARD:0022322,Orphanet,ORPHA:576227,Subtype of disorder,Clinical subtype,Complete atrioventricular septal defect without ventricular hypoplasia,Balanced complete atrioventricular canal|CAVC without ventricular hypoplasia|Complete AVSD without ventricular hypoplasia|Complete atrioventricular canal defect without ventricular hypoplasia|Complete atrioventricular septal defect with balanced ventricles +GARD:0022323,Orphanet,ORPHA:576232,Subtype of disorder,Clinical subtype,Partial atrioventricular septal defect with ventricular hypoplasia,PAVC with ventricular hypoplasia|Partial AVSD with ventricular hypoplasia|Partial atrioventricular canal defect with ventricular hypoplasia|Partial atrioventricular septal defect with ventricular imbalance|Unbalanced partial atrioventricular canal +GARD:0022324,Orphanet,ORPHA:576235,Subtype of disorder,Clinical subtype,Partial atrioventricular septal defect without ventricular hypoplasia,Balanced partial atrioventricular canal|PAVC without ventricular hypoplasia|Partial AVSD without ventricular hypoplasia|Partial atrioventricular canal defect without ventricular hypoplasia|Partial atrioventricular septal defect with balanced ventricles +GARD:0022325,Orphanet,ORPHA:576242,Disorder,Morphological anomaly,Intermediate atrioventricular septal defect,Intermediate AVSD|Intermediate atrioventricular canal defect|Transitional atrioventricular canal defect +GARD:0022326,Orphanet,ORPHA:576278,Disorder,Malformation syndrome,SATB2-associated syndrome,SAS +GARD:0022327,Orphanet,ORPHA:576356,Group of disorders,Category,Sporadic human prion disease,Idiopathic human prion disease +GARD:0022328,Orphanet,ORPHA:576360,Group of disorders,Category,Acquired human prion disease,Infectious human prion disease +GARD:0022329,Orphanet,ORPHA:576379,Disorder,Disease,Iatrogenic Creutzfeldt-Jakob disease,Iatrogenic MCJ|iCJD +GARD:0022330,Orphanet,ORPHA:576742,Group of disorders,Category,Genetic hemolytic uremic syndrome,Genetic HUS +GARD:0022331,Orphanet,ORPHA:580572,Disorder,Disease,Intraductal tubulopapillary neoplasm of pancreas,ITPN +GARD:0022332,Orphanet,ORPHA:580933,Disorder,Malformation syndrome,Lethal brain and heart developmental defects, +GARD:0022333,Orphanet,ORPHA:583097,Disorder,Disease,Congenital infiltrating lipomatosis of the face,CIL-F|Facial infused lipomatosis|Fibroadipose infiltrating lipomatosis +GARD:0022334,Orphanet,ORPHA:583595,Disorder,Disease,"Serine biosynthesis pathway deficiency, infantile/juvenile form", +GARD:0022335,Orphanet,ORPHA:583602,Subtype of disorder,Etiological subtype,Neu-laxova syndrome due to phosphoserine aminotransferase deficiency,"Phosphoserine aminotransferase deficiency, prenatal form" +GARD:0022336,Orphanet,ORPHA:583607,Subtype of disorder,Etiological subtype,Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency,"3-phosphoglycerate dehydrogenase deficiency, prenatal form" +GARD:0022337,Orphanet,ORPHA:583612,Subtype of disorder,Etiological subtype,Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency,"3-phosphoserine phosphatase deficiency, prenatal form" +GARD:0022338,Orphanet,ORPHA:583856,Disorder,Disease,Isolated splenic vein thrombosis, +GARD:0022339,Orphanet,ORPHA:583861,Disorder,Disease,Isolated mesenteric vein thrombosis, +GARD:0022340,Orphanet,ORPHA:585867,Disorder,Disease,Acute myeloid leukemia with t(9;22)(q34.1;q11.2),AML with BCR-ABL1|AML with t(9;22)(q34.1;q11.2) +GARD:0022341,Orphanet,ORPHA:585877,Subtype of disorder,Etiological subtype,B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality, +GARD:0022342,Orphanet,ORPHA:585909,Subtype of disorder,Etiological subtype,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),B-ALL with t(9;22)(q34.1;q11.2)|BCR-ABL1-like B-ALL|Philadelphia chromosome-like B-ALL +GARD:0022343,Orphanet,ORPHA:585918,Subtype of disorder,Etiological subtype,B-lymphoblastic leukemia/lymphoma with t(v;11q23.3),B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged|B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged +GARD:0022344,Orphanet,ORPHA:585929,Subtype of disorder,Etiological subtype,B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1),B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1|B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 +GARD:0022345,Orphanet,ORPHA:585936,Subtype of disorder,Etiological subtype,B-lymphoblastic leukemia/lymphoma with hyperdiploidy, +GARD:0022346,Orphanet,ORPHA:585942,Subtype of disorder,Etiological subtype,B-lymphoblastic leukemia/lymphoma with hypodiploidy,Hypodiploid ALL +GARD:0022347,Orphanet,ORPHA:585948,Subtype of disorder,Etiological subtype,B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3),B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH +GARD:0022348,Orphanet,ORPHA:585956,Subtype of disorder,Etiological subtype,B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 +GARD:0022349,Orphanet,ORPHA:586130,Disorder,Disease,Sporadic fatal insomnia, +GARD:0022350,Orphanet,ORPHA:589442,Disorder,Malformation syndrome,Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome,Liberfarb syndrome +GARD:0022351,Orphanet,ORPHA:589515,Disorder,Disease,PUM1-associated developmental disability-ataxia-seizure syndrome,PADDAS syndrome|SCA47 +GARD:0022352,Orphanet,ORPHA:589522,Disorder,Disease,Spinocerebellar ataxia type 46,SCA46 +GARD:0022353,Orphanet,ORPHA:589527,Disorder,Disease,Spinocerebellar ataxia type 45,SCA45 +GARD:0022354,Orphanet,ORPHA:589534,Subtype of disorder,Etiological subtype,Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1 +GARD:0022355,Orphanet,ORPHA:589542,Disorder,Disease,Myeloid/lymphoid neoplasm associated with JAK2 rearrangement,Myeloid/lymphoid neoplasms with PCM1-JAK2 +GARD:0022356,Orphanet,ORPHA:589547,Disorder,Disease,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder", +GARD:0022357,Orphanet,ORPHA:589595,Subtype of disorder,Etiological subtype,Mixed phenotype acute leukemia with t(v;11q23.3),MPAL with t(v;11q23.3); KMT2A rearranged|MPAL with t(v;11q23.3); MLL rearranged +GARD:0022358,Orphanet,ORPHA:589608,Disorder,Disease,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",RHOA-related mosaic ectodermal dysplasia +GARD:0022359,Orphanet,ORPHA:589618,Disorder,Disease,Dystonia 28,DYT28|KMT2B-related dystonia +GARD:0022360,Orphanet,ORPHA:589746,Group of disorders,Category,Inherited gynecological cancer-predisposing syndrome, +GARD:0022361,Orphanet,ORPHA:589821,Subtype of disorder,Clinical subtype,Congenital-onset Steinert myotonic dystrophy,Congenital-onset Steinert disease|Congenital-onset myotonic dystrophy type 1 +GARD:0022362,Orphanet,ORPHA:589824,Subtype of disorder,Clinical subtype,Childhood-onset Steinert myotonic dystrophy,Childhood-onset Steinert disease|Childhood-onset myotonic dystrophy type 1 +GARD:0022363,Orphanet,ORPHA:589827,Subtype of disorder,Clinical subtype,Juvenile-onset Steinert myotonic dystrophy,Juvenile-onset Steinert disease|Juvenile-onset myotonic dystrophy type 1 +GARD:0022364,Orphanet,ORPHA:589830,Subtype of disorder,Clinical subtype,Adult-onset Steinert myotonic dystrophy,Adult-onset Steinert disease|Adult-onset myotonic dystrophy type 1 +GARD:0022365,Orphanet,ORPHA:589833,Subtype of disorder,Clinical subtype,Late-onset Steinert myotonic dystrophy,Late-onset Steinert disease|Late-onset myotonic dystrophy type 1 +GARD:0022366,Orphanet,ORPHA:589856,Disorder,Malformation syndrome,Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome +GARD:0022367,Orphanet,ORPHA:589905,Disorder,Disease,PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,Chung-Jansen syndrome +GARD:0022368,Orphanet,ORPHA:590539,Disorder,Disease,Isolated melanotic schwannoma,Isolated melanocytic schwannoma +GARD:0022369,Orphanet,ORPHA:592564,Disorder,Disease,GNAO1-related developmental delay-seizures-movement disorder spectrum,GNAO1-related spectrum +GARD:0022370,Orphanet,ORPHA:592570,Disorder,Malformation syndrome,TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome, +GARD:0022371,Orphanet,ORPHA:592574,Disorder,Malformation syndrome,Menke-Hennekam syndrome, +GARD:0022372,Orphanet,ORPHA:592850,Subtype of disorder,Clinical subtype,Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies,NMOSD with anti-AQP4 antibodies|Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies +GARD:0022373,Orphanet,ORPHA:592856,Subtype of disorder,Clinical subtype,Neuromyelitis optica spectrum disorder with anti-MOG antibodies,NMOSD with anti-MOG antibodies|Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies +GARD:0022374,Orphanet,ORPHA:592869,Subtype of disorder,Clinical subtype,Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies,NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies|Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies +GARD:0022375,Orphanet,ORPHA:592873,Subtype of disorder,Clinical subtype,Acute transverse myelitis with anti-MOG antibodies,Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies +GARD:0022376,Orphanet,ORPHA:592885,Subtype of disorder,Clinical subtype,Isolated optic neuritis without anti-MOG antibodies,Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies +GARD:0022377,Orphanet,ORPHA:592888,Subtype of disorder,Clinical subtype,Isolated optic neuritis with anti-MOG antibodies,Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies +GARD:0022378,Orphanet,ORPHA:592894,Subtype of disorder,Clinical subtype,Acute disseminated encephalomyelitis with anti-MOG antibodies,ADEM with anti-MOG antibodies|Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies +GARD:0022379,Orphanet,ORPHA:592900,Subtype of disorder,Clinical subtype,Acute disseminated encephalomyelitis without anti-MOG antibodies,Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies +GARD:0022380,Orphanet,ORPHA:595098,Subtype of disorder,Clinical subtype,Timothy syndrome type 1,LQT8 type 1|TS1 +GARD:0022381,Orphanet,ORPHA:595105,Subtype of disorder,Clinical subtype,Timothy syndrome type 2,LQT8 type 2|TS2 +GARD:0022382,Orphanet,ORPHA:595109,Subtype of disorder,Clinical subtype,Atypical Timothy syndrome,ATS|Atypical LQT8 +GARD:0022383,Orphanet,ORPHA:595133,Disorder,Disease,Perivascular epithelioid cell neoplasm,PEComa|Perivascular epithelioid tumour +GARD:0022384,Orphanet,ORPHA:595216,Group of disorders,Clinical group,Fibrous dysplasia/McCune-Albright syndrome,FD/MAS spectrum|FD/MAS syndrome|Fibrous dysplasia/McCune-Albright spectrum +GARD:0022385,Orphanet,ORPHA:595337,Group of disorders,Clinical group,Adrenal hypoplasia congenita,AHC|Congenital adrenal hypoplasia|Primary adrenal hypoplasia +GARD:0022386,Orphanet,ORPHA:595346,Group of disorders,Category,Epidermolysis bullosa simplex without extracutaneous involvement,EBS without extracutaneous involvement +GARD:0022387,Orphanet,ORPHA:595351,Group of disorders,Category,Epidermolysis bullosa simplex with extracutaneous involvement,EBS with extracutaneous involvement +GARD:0022388,Orphanet,ORPHA:595356,Disorder,Disease,Localized dystrophic epidermolysis bullosa,Localized DEB +GARD:0022389,Orphanet,ORPHA:596008,Subtype of disorder,Clinical subtype,Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis, +GARD:0022390,Orphanet,ORPHA:596426,Group of disorders,Clinical group,Syndrome of reduced sensitivity to thyroid hormone, +GARD:0022391,Orphanet,ORPHA:596448,Disorder,Disease,IgG4-related systemic disease,IgG4-RD|IgG4-related disease +GARD:0022392,Orphanet,ORPHA:596759,Disorder,Disease,Combined immunodeficiency due to RELA haploinsufficiency,CID due to RELA haploinsufficiency +GARD:0022393,Orphanet,ORPHA:596937,Disorder,Disease,Portosinusoidal vascular disease,PSVD +GARD:0022394,Orphanet,ORPHA:596941,Subtype of disorder,Histopathological subtype,Incomplete septal cirrhosis,Incomplete septal fibrosis +GARD:0022395,Orphanet,ORPHA:597201,Disorder,Disease,TRIM22-related inflammatory bowel disease,TRIM22-related IBD +GARD:0022396,Orphanet,ORPHA:597623,Disorder,Disease,IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome, +GARD:0022397,Orphanet,ORPHA:597743,Disorder,Malformation syndrome,SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome, +GARD:0022398,Orphanet,ORPHA:597746,Disorder,Malformation syndrome,Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome, +GARD:0022399,Orphanet,ORPHA:597749,Group of disorders,Clinical group,KAT6B-related multiple congenital anomalies syndrome,KAT6B-related disorder +GARD:0022400,Orphanet,ORPHA:597887,Disorder,Disease,ALPI-related inflammatory bowel disease, +GARD:0022401,Orphanet,ORPHA:597939,Disorder,Disease,Euthyroid dysprealbuminemic hyperthyroxinemia,Euthyroid dystransthyretinemic hyperthyroxinemia +GARD:0022402,Orphanet,ORPHA:598164,Subtype of disorder,Clinical subtype,FOXG1 syndrome due to intragenic alteration, +GARD:0022403,Orphanet,ORPHA:598363,Disorder,Disease,Multisystem inflammatory syndrome in children and adults,MIS-C/A +GARD:0022404,Orphanet,ORPHA:599373,Disorder,Disease,STXBP1-related encephalopathy, +GARD:0022405,Orphanet,ORPHA:599376,Disorder,Disease,Hypomyelination of early myelinating structures,HEMS +GARD:0022406,Orphanet,ORPHA:599418,Subtype of disorder,Clinical subtype,Hereditary angioedema with normal C1Inh not related to F12 or PLG variant, +GARD:0022407,Orphanet,ORPHA:599485,Disorder,Disease,Acquired hemophilia B,AHB|Acquired F9 deficiency|Acquired factor IX deficiency +GARD:0022408,Orphanet,ORPHA:599490,Disorder,Disease,Acquired factor V deficiency, +GARD:0022409,Orphanet,ORPHA:599495,Disorder,Disease,Acquired factor VII deficiency, +GARD:0022410,Orphanet,ORPHA:599501,Disorder,Disease,Acquired factor X deficiency,aFX +GARD:0022411,Orphanet,ORPHA:599507,Disorder,Disease,Acquired factor XI deficiency,aFXI +GARD:0022412,Orphanet,ORPHA:599513,Disorder,Disease,Acquired factor XIII deficiency,aFXIII +GARD:0022413,Orphanet,ORPHA:599519,Disorder,Disease,Factor V short isoforms-related bleeding disorder,FV short isoforms-related bleeding disorder +GARD:0022414,Orphanet,ORPHA:599579,Subtype of disorder,Etiological subtype,Factor V Amsterdam bleeding disorder, +GARD:0022415,Orphanet,ORPHA:600194,Subtype of disorder,Etiological subtype,Factor V Atlanta bleeding disorder, +GARD:0022416,Orphanet,ORPHA:600663,Disorder,Malformation syndrome,NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance, +GARD:0022417,Orphanet,ORPHA:600668,Disorder,Disease,CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome, +GARD:0022418,Orphanet,ORPHA:600691,Disorder,Disease,Combined deficiency of factor VII and factor X, +GARD:0022419,Orphanet,ORPHA:600832,Group of disorders,Clinical group,Legionellosis,Legionella infection +GARD:0022420,Orphanet,ORPHA:600952,Disorder,Morphological anomaly,Non-syndromic anorectal malformation with perineal fistula,Non-syndromic ARM with cutaneous fistula|Non-syndromic ARM with perineal fistula|Non-syndromic anorectal malformation with cutaneous fistula +GARD:0022421,Orphanet,ORPHA:600961,Disorder,Morphological anomaly,Non-syndromic anorectal malformation with rectourethral fistula,Non-syndromic ARM with rectourethral fistula +GARD:0022422,Orphanet,ORPHA:600966,Subtype of disorder,Clinical subtype,"Non-syndromic anorectal malformation with rectourethral fistula, bulbar type","Non-syndromic ARM with rectobulbar fistula|Non-syndromic ARM with rectourethral fistula, bulbar type|Non-syndromic anorectal malformation with rectobulbar fistula" +GARD:0022423,Orphanet,ORPHA:600975,Subtype of disorder,Clinical subtype,"Non-syndromic anorectal malformation with rectourethral fistula, prostatic type","Non-syndromic ARM with rectoprostatic fistula|Non-syndromic ARM with rectourethral fistula, prostatic type|Non-syndromic anorectal malformation with rectoprostatic fistula" +GARD:0022424,Orphanet,ORPHA:600984,Disorder,Morphological anomaly,Non-syndromic anorectal malformation with rectovesical fistula,Non-syndromic ARM with bladder neck fistula|Non-syndromic ARM with rectovesical fistula|Non-syndromic anorectal malformation with bladder neck fistula +GARD:0022425,Orphanet,ORPHA:600993,Disorder,Morphological anomaly,Non-syndromic anorectal malformation with vestibular fistula,Non-syndromic ARM with vestibular fistula +GARD:0022426,Orphanet,ORPHA:600998,Disorder,Morphological anomaly,Non-syndromic cloacal malformation, +GARD:0022427,Orphanet,ORPHA:601002,Disorder,Morphological anomaly,Non-syndromic anorectal malformation without fistula,Non-syndromic ARM without fistula|Non-syndromic anorectal malformation with no fistula +GARD:0022428,Orphanet,ORPHA:601008,Disorder,Morphological anomaly,Non-syndromic anorectal malformation with anal stenosis,Non-syndromic ARM with anal stenosis +GARD:0022429,Orphanet,ORPHA:601013,Disorder,Morphological anomaly,Non-syndromic anorectal malformation with pouch colon,Non-syndromic ARM with pouch colon +GARD:0022430,Orphanet,ORPHA:601018,Disorder,Morphological anomaly,Non-syndromic anorectal malformation with rectal atresia,Non-syndromic ARM with rectal atresia +GARD:0022431,Orphanet,ORPHA:601023,Disorder,Morphological anomaly,Non-syndromic anorectal malformation with rectal stenosis,Non-syndromic ARM with rectal stenosis +GARD:0022432,Orphanet,ORPHA:601028,Disorder,Morphological anomaly,Non-syndromic anorectal malformation with rectovaginal fistula,Non-syndromic ARM with rectovaginal fistula +GARD:0022433,Orphanet,ORPHA:601033,Disorder,Morphological anomaly,Non-syndromic anorectal malformation with H-type fistula,Non-syndromic ARM with H-type fistula +GARD:0022434,Orphanet,ORPHA:603515,Disorder,Morphological anomaly,Isolated female hypospadias, +GARD:0022435,Orphanet,ORPHA:603684,Disorder,Malformation syndrome,KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome,PERCHING syndrome +GARD:0022436,Orphanet,ORPHA:603689,Disorder,Malformation syndrome,KLHL7-related Bohring-Opitz-like syndrome,KLHL7-related BOS-like syndrome +GARD:0022437,Orphanet,ORPHA:603694,Disorder,Disease,KLHL7-related cold-induced sweating-like syndrome,KLHL7-related Crisponi-like syndrome +GARD:0022438,Orphanet,ORPHA:603699,Group of disorders,Clinical group,KLHL7-related disorder, +GARD:0022439,Orphanet,ORPHA:604680,Disorder,Disease,Symptomatic form of X-linked centronuclear myopathy in female carriers,Symptomatic form of X-linked myotubular myopathy in female carriers|Symptomatic form of XLCNM in female carriers|Symptomatic form of XLMTM in female carriers +GARD:0022440,Orphanet,ORPHA:611314,Group of disorders,Category,Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome, +GARD:0022441,Orphanet,ORPHA:611327,Group of disorders,Category,Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability,Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism +GARD:0022442,Orphanet,ORPHA:615943,Disorder,Disease,Granuloma faciale,Facial granuloma of Lever|Granuloma of Lever +GARD:0022443,Orphanet,ORPHA:615970,Disorder,Disease,Chronic intervillositis of unknown etiology,CIUE +GARD:0022444,Orphanet,ORPHA:616874,Disorder,Disease,Rare disorder without a determined diagnosis after full investigation,Fully investigated rare disorder without a determined diagnosis +GARD:0022445,Orphanet,ORPHA:617294,Disorder,Disease,Twin anemia-polycythemia sequence,TAPS +GARD:0022446,Orphanet,ORPHA:617297,Disorder,Disease,Twin-reversed arterial perfusion sequence,TRAP +GARD:0022447,Orphanet,ORPHA:617301,Disorder,Disease,Selective intrauterine growth restriction, +GARD:0022448,Orphanet,ORPHA:617304,Disorder,Disease,Amniotic fluid embolism, +GARD:0022449,Orphanet,ORPHA:617307,Group of disorders,Category,Rare disorder related to monochorionic twin pregnancy, +GARD:0022450,Orphanet,ORPHA:617310,Group of disorders,Category,Rare disorder due to unbalanced inter-twin blood transfusion, +GARD:0022451,Orphanet,ORPHA:617313,Group of disorders,Category,Rare disorder due to inadequate sharing of the placenta, +GARD:0022452,Orphanet,ORPHA:617408,Disorder,Disease,Classic eosinophilic pustular folliculitis,Classic EPF|Ofuji disease +GARD:0022453,Orphanet,ORPHA:617449,Disorder,Disease,Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome, +GARD:0022454,Orphanet,ORPHA:617919,Disorder,Disease,F12-associated cold autoinflammatory syndrome, +GARD:0022455,Orphanet,ORPHA:617930,Subtype of disorder,Clinical subtype,Hemophilia B Leyden,"F9 deficiency, Leyden type|Factor IX deficiency, Leyden type" +GARD:0022456,Orphanet,ORPHA:618891,Disorder,Disease,Chronic neurovisceral acid sphingomyelinase deficiency,Chronic neurovisceral ASMD|NPD-A/B|Niemann-Pick disease type A/B +GARD:0022457,Orphanet,ORPHA:618899,Group of disorders,Clinical group,Acid sphingomyelinase deficiency,ASMD +GARD:0022458,Orphanet,ORPHA:619233,Disorder,Disease,Hereditary persistence of fetal hemoglobin-intellectual disability syndrome,Dias-Logan syndrome +GARD:0022459,Orphanet,ORPHA:619249,Group of disorders,Category,Rare hereditary connective tissue disease, +GARD:0022460,Orphanet,ORPHA:619284,Group of disorders,Clinical group,Narcolepsy,Narcolepsy with or without cataplexy +GARD:0022461,Orphanet,ORPHA:619340,Group of disorders,Category,Inherited hematologic cancer-predisposing syndrome, +GARD:0022462,Orphanet,ORPHA:619363,Disorder,Disease,Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18,Neonatal-onset autoinflammation-cytopenia-facial dysmorphism syndrome|Neonatal-onset severe multisystemic autoinflammatory disease with increased interleukin 18 +GARD:0022463,Orphanet,ORPHA:619367,Disorder,Disease,SAMD9L-associated autoinflammatory syndrome,SAMD9L-SAAD +GARD:0022464,Orphanet,ORPHA:619941,Disorder,Disease,Immune deficiency due to impaired neutrophil phagocytosis and migration,Immunodeficiency due to impaired neutrophil phagocytosis and migration|MKL1-related neutrophil motility defect +GARD:0022465,Orphanet,ORPHA:619948,Disorder,Disease,Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome,SOCS1-related autoinflammatory syndrome +GARD:0022466,Orphanet,ORPHA:619953,Disorder,Disease,Familial hyperinflammatory lymphoproliferative immunodeficiency,HEM1 deficiency syndrome|NCKAP1L-associated hyperinflammatory disorder +GARD:0022467,Orphanet,ORPHA:619972,Disorder,Disease,CADINS disease,CARD11-associated atopy with dominant interference of NF-kB signaling syndrome +GARD:0022468,Orphanet,ORPHA:619979,Disorder,Disease,Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome, +GARD:0022469,Orphanet,ORPHA:620096,Group of disorders,Clinical group,Non-syndromic unisutural craniosynostosis,Isolated unisutural craniosynostosis|Non-syndromic single suture synostosis +GARD:0022470,Orphanet,ORPHA:620102,Disorder,Morphological anomaly,Non-syndromic unicoronal craniosynostosis,Isolated frontal plagiocephaly|Isolated unicoronal craniosynostosis|Non-syndromic anterior synostotic plagiocephaly|Non-syndromic frontoparietal craniosynostosis|Non-syndromic hemicoronal craniosynostosis|Non-syndromic unilateral coronal synostosis +GARD:0022471,Orphanet,ORPHA:620113,Disorder,Morphological anomaly,Non-syndromic unilambdoid craniosynostosis,Isolated occipital plagiocephaly|Isolated unilamboid craniosynostosis|Non-syndromic posterior synostotic plagiocephaly|Non-syndromic unilateral lambdoid synostosis +GARD:0022472,Orphanet,ORPHA:620139,Disorder,Morphological anomaly,Non-syndromic unifrontosphenoidal craniosynostosis,Isolated unifrontosphenoidal craniosynostosis|Isolated unilateral sphenofrontal suture synostosis|Non-syndromic unilateral frontosphenoidal suture synostosis +GARD:0022473,Orphanet,ORPHA:620146,Disorder,Morphological anomaly,Non-syndromic unisquamosal craniosynostosis,Isolated unisquamosal craniosynostosis|Non-syndromic unilateral squamosal suture synostosis +GARD:0022474,Orphanet,ORPHA:620152,Group of disorders,Clinical group,Non-syndromic multisutural craniosynostosis,Isolated multisutural craniosynostosis|Non-syndromic multiple suture synostosis +GARD:0022475,Orphanet,ORPHA:620158,Disorder,Morphological anomaly,Non-syndromic non-specific multisutural craniosynostosis,Isolated non-specific multisutural craniosynostosis|Non-syndromic non-specific multiple suture synostosis +GARD:0022476,Orphanet,ORPHA:620178,Disorder,Morphological anomaly,Non-syndromic bilambdoid craniosynostosis,Isolated bilambdoid craniosynostosis|Isolated pachycephaly|Non-syndromic bilateral lambdoid synostosis +GARD:0022477,Orphanet,ORPHA:620186,Disorder,Morphological anomaly,Non-syndromic unicoronal and sagittal craniosynostosis,Isolated unicoronal and sagittal craniosynostosis|Non-syndromic unilateral coronal and sagittal suture synostosis +GARD:0022478,Orphanet,ORPHA:620192,Disorder,Morphological anomaly,Non-syndromic metopic and sagittal craniosynostosis,Isolated metopic and sagittal craniosynostosis|Non-syndromic metopic and sagittal suture synostosis +GARD:0022479,Orphanet,ORPHA:620198,Disorder,Morphological anomaly,Non-syndromic bicoronal and metopic craniosynostosis,Isolated bicoronal and metopic craniosynostosis|Non-syndromic bilateral coronal and metopic suture synostosis +GARD:0022480,Orphanet,ORPHA:620205,Disorder,Morphological anomaly,Non-syndromic bicoronal and sagittal craniosynostosis,Isolated bicoronal and sagittal craniosynostosis|Non-syndromic sagittal and bilateral coronal synostosis +GARD:0022481,Orphanet,ORPHA:620212,Disorder,Morphological anomaly,Non-syndromic pansynostosis,Isolated pansynostosis|Non-syndromic synostosis of all cranial vault sutures +GARD:0022482,Orphanet,ORPHA:620217,Subtype of disorder,Clinical subtype,Bartter syndrome type 1,Bartter syndrome type I +GARD:0022483,Orphanet,ORPHA:620220,Subtype of disorder,Clinical subtype,Bartter syndrome type 2,Bartter syndrome type II +GARD:0022484,Orphanet,ORPHA:620363,Disorder,Disease,Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome, +GARD:0022485,Orphanet,ORPHA:620368,Disorder,Disease,EGF-related primary hypomagnesemia with intellectual disability, +GARD:0022486,Orphanet,ORPHA:620371,Disorder,Disease,Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation,Gitelman-like kidney tubulopathy due to mtDNA mutation +GARD:0022487,Orphanet,ORPHA:621758,Disorder,Disease,Fibrosis-neurodegeneration-cerebral angiomatosis syndrome,FINCA|Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome +GARD:0022488,Orphanet,ORPHA:622720,Group of disorders,Category,Genetic autoinflammatory syndrome with skin involvement, +GARD:0022489,Orphanet,ORPHA:622914,Group of disorders,Category,Rare genetic nevus, +GARD:0022490,Orphanet,ORPHA:622925,Disorder,Malformation syndrome,X-linked severe syndromic thoracic aortic aneurysm and dissection,Meester-Loeys syndrome|X-linked severe syndromic TAAD +GARD:0022491,Orphanet,ORPHA:622934,Disorder,Malformation syndrome,SBDS-related severe neonatal spondylometaphyseal dysplasia,"SBDS-related severe neonatal SMD|Spondylometaphyseal dysplasia, Sedaghatian-like type" +GARD:0022492,Orphanet,ORPHA:623615,Disorder,Disease,Autoimmune limbic encephalitis,ALE +GARD:0022493,Orphanet,ORPHA:623626,Disorder,Disease,Paraneoplastic cerebellar degeneration,PCD|Paraneoplastic cerebellar ataxia|Rapidely progressive cerebellar syndrome|Subacute cerebellar degeneration +GARD:0022494,Orphanet,ORPHA:623638,Group of disorders,Clinical group,Immune-mediated cerebellar ataxia,Autoimmune cerebellitis|IMCA +GARD:0022495,Orphanet,ORPHA:623695,Disorder,Malformation syndrome,MIR140-related spondyloepiphyseal dysplasia,MIR140-related SED|Spondyloepiphyseal dysplasia with severe brachydactyly and cone-shaped epiphyses +GARD:0022496,Orphanet,ORPHA:623789,Disorder,Disease,Body integrity dysphoria,BID|BIID|Body integrity identity disorder +GARD:0022497,Orphanet,ORPHA:624166,Disorder,Disease,Non-specific autoimmune supratentorial encephalitis with characteristic antibodies,Non-specific supratentorial AE with characteristic antibodies +GARD:0022498,Orphanet,ORPHA:624178,Disorder,Disease,Non-specific autoimmune supratentorial encephalitis without characteristic antibodies,Non-specific supratentorial AE without characteristic antibodies +GARD:0022499,Orphanet,ORPHA:624190,Disorder,Disease,Paraneoplastic isolated brainstem encephalitis,Paraneoplastic isolated rhombencephalitis|Paraneoplastic isolated rhomboencephalitis +GARD:0022500,Orphanet,ORPHA:624199,Disorder,Disease,Non-specific autoimmune brainstem encephalitis with characteristic antibodies,Non-specific autoimmune rhombencephalitis with characteristic antibodies|Non-specific autoimmune rhomboencephalitis with characteristic antibodies +GARD:0022501,Orphanet,ORPHA:624216,Disorder,Disease,Non-specific autoimmune brainstem encephalitis without characteristic antibodies,Non-specific autoimmune rhombencephalitis without characteristic antibodies|Non-specific autoimmune rhomboencephalitis without characteristic antibodies +GARD:0022502,Orphanet,ORPHA:624244,Disorder,Disease,Postinfectious cerebellitis,ACA|APCA|Acute cerebellar ataxia|Acute postinfectious cerebellar ataxia|PIC|Para-infectious cerebellitis +GARD:0022503,Orphanet,ORPHA:624259,Disorder,Disease,Non-specific autoimmune cerebellar ataxia with characteristic antibodies,Non-specific autoimmune CA with characteristic antibodies +GARD:0022504,Orphanet,ORPHA:624268,Disorder,Disease,Non-specific autoimmune cerebellar ataxia without characteristic antibodies,Non-specific autoimmune CA without characteristic antibodies|PACA|Primary Autoimmune Cerebellar Ataxia +GARD:0022505,Orphanet,ORPHA:52662,Group of disorders,Category,Rare teratologic disease,Acquired embryofetopathy +GARD:0022506,Orphanet,ORPHA:57146,Group of disorders,Category,Rare hepatic disease, +GARD:0022507,Orphanet,ORPHA:68329,Group of disorders,Category,Rare maxillo-facial surgical disease,Rare maxillofacial anomaly +GARD:0022508,Orphanet,ORPHA:68367,Group of disorders,Category,Rare inborn errors of metabolism,Rare metabolic disease +GARD:0022509,Orphanet,ORPHA:68416,Group of disorders,Category,Rare infectious disease, +GARD:0022510,Orphanet,ORPHA:89826,Group of disorders,Category,Rare skin disease, +GARD:0022511,Orphanet,ORPHA:93419,Group of disorders,Category,Rare bone disease, +GARD:0022512,Orphanet,ORPHA:93626,Group of disorders,Category,Rare renal disease, +GARD:0022513,Orphanet,ORPHA:93890,Group of disorders,Category,Rare developmental defect during embryogenesis,Malformation syndrome +GARD:0022514,Orphanet,ORPHA:96344,Group of disorders,Category,Rare gynecologic or obstetric disease, +GARD:0022515,Orphanet,ORPHA:97929,Group of disorders,Category,Rare cardiac disease, +GARD:0022516,Orphanet,ORPHA:97935,Group of disorders,Category,Rare gastroenterologic disease, +GARD:0022517,Orphanet,ORPHA:97955,Group of disorders,Category,Rare respiratory disease, +GARD:0022518,Orphanet,ORPHA:97962,Group of disorders,Category,Rare surgical thoracic disease, +GARD:0022519,Orphanet,ORPHA:97965,Group of disorders,Category,Rare surgical cardiac disease, +GARD:0022520,Orphanet,ORPHA:97966,Group of disorders,Category,Rare ophthalmic disorder, +GARD:0022521,Orphanet,ORPHA:97978,Group of disorders,Category,Rare endocrine disease, +GARD:0022522,Orphanet,ORPHA:97992,Group of disorders,Category,Rare hematologic disease, +GARD:0022523,Orphanet,ORPHA:98004,Group of disorders,Category,Rare immune disease, +GARD:0022524,Orphanet,ORPHA:98006,Group of disorders,Category,Rare neurologic disease,Rare nervous system disease +GARD:0022525,Orphanet,ORPHA:98023,Group of disorders,Category,Rare systemic or rheumatologic disease, +GARD:0022526,Orphanet,ORPHA:98026,Group of disorders,Category,Rare odontologic disease, +GARD:0022527,Orphanet,ORPHA:98028,Group of disorders,Category,Rare circulatory system disease, +GARD:0022528,Orphanet,ORPHA:98036,Group of disorders,Category,Rare otorhinolaryngologic disease, +GARD:0022529,Orphanet,ORPHA:98047,Group of disorders,Category,Rare infertility, +GARD:0022530,Orphanet,ORPHA:98050,Group of disorders,Category,Rare allergic disease,Rare allergy +GARD:0022531,Orphanet,ORPHA:98053,Group of disorders,Category,Rare genetic disease, +GARD:0022532,Orphanet,ORPHA:101433,Group of disorders,Category,Rare urogenital disease, +GARD:0022533,Orphanet,ORPHA:108999,Group of disorders,Category,Rare disorder due to toxic effects, +GARD:0022534,Orphanet,ORPHA:165711,Group of disorders,Category,Rare abdominal surgical disease, +GARD:0022535,Orphanet,ORPHA:250908,Group of disorders,Category,Rare neoplastic disease,Rare tumoral disease +GARD:0022536,Orphanet,ORPHA:565779,Group of disorders,Category,Rare disorder potentially indicated for transplant or complication after transplantation, +GARD:0022537,Orphanet+OMIM,OMIM:249500,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 1","Mental retardation, autosomal recessive 1" +GARD:0022538,Orphanet+OMIM,OMIM:607417,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 2","mental retardation, autosomal recessive 2a|Mental retardation, autosomal recessive 2" +GARD:0022539,Orphanet+OMIM,OMIM:608443,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 3","Mental retardation, autosomal recessive 3" +GARD:0022540,Orphanet+OMIM,OMIM:611090,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 12", +GARD:0022541,Orphanet+OMIM,OMIM:611091,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 5","Mental retardation, autosomal recessive 5" +GARD:0022542,Orphanet+OMIM,OMIM:611092,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 6","Mental retardation, autosomal recessive 6" +GARD:0022543,Orphanet+OMIM,OMIM:611093,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 7","mental retardation, autosomal recessive 22|Intellectual developmental disorder 22|mental retardation, autosomal recessive 7" +GARD:0022544,Orphanet+OMIM,OMIM:611095,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 9", +GARD:0022545,Orphanet+OMIM,OMIM:611096,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 10", +GARD:0022546,Orphanet+OMIM,OMIM:611097,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 11", +GARD:0022547,Orphanet+OMIM,OMIM:611107,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 4", +GARD:0022548,Orphanet+OMIM,OMIM:613192,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 13","Mental retardation, autosomal recessive 13" +GARD:0022549,Orphanet+OMIM,OMIM:614020,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 14","Mental retardation, autosomal recessive 14" +GARD:0022550,Orphanet+OMIM,OMIM:614202,Subtype of disorder,Etiological subtype,Rafiq syndrome,"Cdg2u|mental retardation, autosomal recessive 15, formerly" +GARD:0022551,Orphanet+OMIM,OMIM:614208,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 16", +GARD:0022552,Orphanet+OMIM,OMIM:614249,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy","Intellectual developmental disorder, autosomal recessive 18|mental retardation, autosomal recessive 18" +GARD:0022553,Orphanet+OMIM,OMIM:614329,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 31", +GARD:0022554,Orphanet+OMIM,OMIM:614333,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 29", +GARD:0022555,Orphanet+OMIM,OMIM:614340,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 27","Mental retardation, autosomal recessive 27" +GARD:0022556,Orphanet+OMIM,OMIM:614341,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 33", +GARD:0022557,Orphanet+OMIM,OMIM:614342,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 30", +GARD:0022558,Orphanet+OMIM,OMIM:614343,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 19", +GARD:0022559,Orphanet+OMIM,OMIM:614344,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 23", +GARD:0022560,Orphanet+OMIM,OMIM:614345,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 24", +GARD:0022561,Orphanet+OMIM,OMIM:614346,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 25", +GARD:0022562,Orphanet+OMIM,OMIM:614347,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 28", +GARD:0022563,Orphanet+OMIM,OMIM:614499,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly","Mental retardation, autosomal recessive 34, with variant lissencephaly" +GARD:0022564,Orphanet+OMIM,OMIM:615802,Subtype of disorder,Etiological subtype,"Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities","mental retardation, autosomal recessive 42|Glycosylphosphatidylinositol biosynthesis defect 9" +GARD:0022565,Orphanet+OMIM,OMIM:615817,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 43","Mental retardation, autosomal recessive 43" +GARD:0022566,Orphanet+OMIM,OMIM:615942,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 44","Mental retardation, autosomal recessive 44" +GARD:0022567,Orphanet+OMIM,OMIM:615979,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 45", +GARD:0022568,Orphanet+OMIM,OMIM:616116,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 46","Mental retardation, autosomal recessive 46" +GARD:0022569,Orphanet+OMIM,OMIM:616193,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 47","Mental retardation, autosomal recessive 47" +GARD:0022570,Orphanet+OMIM,OMIM:616460,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 50","Mental retardation, autosomal recessive 50" +GARD:0022571,Orphanet+OMIM,OMIM:616739,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 51","Mental retardation, autosomal recessive 51" +GARD:0022572,Orphanet+OMIM,OMIM:616887,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 52","Mental retardation, autosomal recessive 52" +GARD:0022573,Orphanet+OMIM,OMIM:617028,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 54","Mental retardation, autosomal recessive 54" +GARD:0022574,Orphanet+OMIM,OMIM:617125,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 56","Mental retardation, autosomal recessive 56" +GARD:0022575,Orphanet+OMIM,OMIM:617188,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 57", +GARD:0022576,Orphanet+OMIM,OMIM:617709,Subtype of disorder,Etiological subtype,"Neurodevelopmental disorder with microcephaly, ataxia, and seizures", +GARD:0022577,Orphanet+OMIM,OMIM:617816,Subtype of disorder,Etiological subtype,Glycosylphosphatidylinositol biosynthesis defect 16,"Mental retardation, autosomal recessive 62" +GARD:0022578,Orphanet+OMIM,OMIM:618109,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 65","Mental retardation, autosomal recessive 65" +GARD:0022579,Orphanet+OMIM,OMIM:618221,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 66","Mental retardation, autosomal recessive 66" +GARD:0022580,Orphanet+OMIM,OMIM:618402,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, autosomal recessive 70","Mental retardation, autosomal recessive 70" +GARD:0022581,Orphanet+OMIM,OMIM:618687,Subtype of disorder,Etiological subtype,Intellectual developmental disorder with short stature and behavioral abnormalities, +GARD:0022582,Orphanet+OMIM,OMIM:600060,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 2",Neurosensory nonsyndromic recessive deafness 2 +GARD:0022583,Orphanet+OMIM,OMIM:600316,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 3",Neurosensory nonsyndromic recessive deafness 3 +GARD:0022584,Orphanet+OMIM,OMIM:600791,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct",Neurosensory nonsyndromic recessive deafness 4|dilated vestibular aqueduct +GARD:0022585,Orphanet+OMIM,OMIM:600792,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 5", +GARD:0022586,Orphanet+OMIM,OMIM:600971,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 6",Neurosensory nonsyndromic recessive deafness 6 +GARD:0022587,Orphanet+OMIM,OMIM:600974,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 7","Deafness, autosomal recessive 11" +GARD:0022588,Orphanet+OMIM,OMIM:601071,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 9",Neurosensory nonsyndromic recessive deafness 9 +GARD:0022589,Orphanet+OMIM,OMIM:601072,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 8","deafness, childhood-onset neurosensory, autosomal recessive 8|Deafness, autosomal recessive 10|neurosensory nonsyndromic recessive deafness 8" +GARD:0022590,Orphanet+OMIM,OMIM:601386,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 12", +GARD:0022591,Orphanet+OMIM,OMIM:601869,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 15","Deafness, autosomal recessive 72|deafness, autosomal recessive 95" +GARD:0022592,Orphanet+OMIM,OMIM:602092,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 18a","Deafness, autosomal recessive 18" +GARD:0022593,Orphanet+OMIM,OMIM:603010,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 17", +GARD:0022594,Orphanet+OMIM,OMIM:603098,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 13", +GARD:0022595,Orphanet+OMIM,OMIM:603629,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 21", +GARD:0022596,Orphanet+OMIM,OMIM:603678,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 14", +GARD:0022597,Orphanet+OMIM,OMIM:603720,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 16", +GARD:0022598,Orphanet+OMIM,OMIM:604060,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 20", +GARD:0022599,Orphanet+OMIM,OMIM:605428,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 26", +GARD:0022600,Orphanet+OMIM,OMIM:605818,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 27", +GARD:0022601,Orphanet+OMIM,OMIM:607039,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 22", +GARD:0022602,Orphanet+OMIM,OMIM:607084,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 31","Whirler, mouse, homolog of" +GARD:0022603,Orphanet+OMIM,OMIM:607101,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 30", +GARD:0022604,Orphanet+OMIM,OMIM:607239,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 33", +GARD:0022605,Orphanet+OMIM,OMIM:607821,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 37", +GARD:0022606,Orphanet+OMIM,OMIM:608219,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 38", +GARD:0022607,Orphanet+OMIM,OMIM:608264,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 40", +GARD:0022608,Orphanet+OMIM,OMIM:608265,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 39", +GARD:0022609,Orphanet+OMIM,OMIM:608565,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 35", +GARD:0022610,Orphanet+OMIM,OMIM:608653,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 32, with or without immotile sperm","deafness, autosomal recessive 105, formerly|Hearing impairment infertile male syndrome" +GARD:0022611,Orphanet+OMIM,OMIM:609006,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 36, with or without vestibular involvement", +GARD:0022612,Orphanet+OMIM,OMIM:609439,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 48", +GARD:0022613,Orphanet+OMIM,OMIM:609533,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 23", +GARD:0022614,Orphanet+OMIM,OMIM:609646,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 42", +GARD:0022615,Orphanet+OMIM,OMIM:609647,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 46", +GARD:0022616,Orphanet+OMIM,OMIM:609706,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 53", +GARD:0022617,Orphanet+OMIM,OMIM:609823,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 28", +GARD:0022618,Orphanet+OMIM,OMIM:610143,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 62", +GARD:0022619,Orphanet+OMIM,OMIM:610153,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 49", +GARD:0022620,Orphanet+OMIM,OMIM:610154,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 44", +GARD:0022621,Orphanet+OMIM,OMIM:610212,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 66", +GARD:0022622,Orphanet+OMIM,OMIM:610220,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 59", +GARD:0022623,Orphanet+OMIM,OMIM:610248,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 65", +GARD:0022624,Orphanet+OMIM,OMIM:610265,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 67", +GARD:0022625,Orphanet+OMIM,OMIM:610419,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 68", +GARD:0022626,Orphanet+OMIM,OMIM:611022,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 24", +GARD:0022627,Orphanet+OMIM,OMIM:611451,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 63", +GARD:0022628,Orphanet+OMIM,OMIM:612433,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 45", +GARD:0022629,Orphanet+OMIM,OMIM:612645,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 1b", +GARD:0022630,Orphanet+OMIM,OMIM:612789,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 71", +GARD:0022631,Orphanet+OMIM,OMIM:613079,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 77", +GARD:0022632,Orphanet+OMIM,OMIM:613285,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 25", +GARD:0022633,Orphanet+OMIM,OMIM:613307,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 79", +GARD:0022634,Orphanet+OMIM,OMIM:613391,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 84a","deafness, autosomal recessive 84a, with vestibular dysfunction|Deafness, autosomal recessive 84" +GARD:0022635,Orphanet+OMIM,OMIM:613392,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 85", +GARD:0022636,Orphanet+OMIM,OMIM:613453,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 91", +GARD:0022637,Orphanet+OMIM,OMIM:613685,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 83", +GARD:0022638,Orphanet+OMIM,OMIM:613718,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 74", +GARD:0022639,Orphanet+OMIM,OMIM:613865,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 61", +GARD:0022640,Orphanet+OMIM,OMIM:613916,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 89", +GARD:0022641,Orphanet+OMIM,OMIM:614035,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 29", +GARD:0022642,Orphanet+OMIM,OMIM:614414,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 96", +GARD:0022643,Orphanet+OMIM,OMIM:614617,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 86", +GARD:0022644,Orphanet+OMIM,OMIM:614861,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 98", +GARD:0022645,Orphanet+OMIM,OMIM:614899,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 93", +GARD:0022646,Orphanet+OMIM,OMIM:614934,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 70", +GARD:0022647,Orphanet+OMIM,OMIM:614944,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 84b", +GARD:0022648,Orphanet+OMIM,OMIM:614945,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 18b", +GARD:0022649,Orphanet+OMIM,OMIM:615429,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 88", +GARD:0022650,Orphanet+OMIM,OMIM:615540,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 76", +GARD:0022651,Orphanet+OMIM,OMIM:615837,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 101", +GARD:0022652,Orphanet+OMIM,OMIM:615974,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 102", +GARD:0022653,Orphanet+OMIM,OMIM:616042,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 103", +GARD:0022654,Orphanet+OMIM,OMIM:616515,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 104", +GARD:0022655,Orphanet+OMIM,OMIM:616705,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 97", +GARD:0022656,Orphanet+OMIM,OMIM:617637,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 106", +GARD:0022657,Orphanet+OMIM,OMIM:617639,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 107", +GARD:0022658,Orphanet+OMIM,OMIM:617654,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 108", +GARD:0022659,Orphanet+OMIM,OMIM:618145,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 111", +GARD:0022660,Orphanet+OMIM,OMIM:618422,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 100", +GARD:0022661,Orphanet+OMIM,OMIM:618434,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 94", +GARD:0022662,Orphanet+OMIM,OMIM:618456,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 114", +GARD:0022663,Orphanet+OMIM,OMIM:618481,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 99", +GARD:0022664,Orphanet+OMIM,OMIM:619093,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 116", +GARD:0022665,Orphanet+OMIM,OMIM:619174,Subtype of disorder,Etiological subtype,"Deafness, autosomal recessive 117", +GARD:0022666,Orphanet+OMIM,OMIM:300046,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 23", +GARD:0022667,Orphanet+OMIM,OMIM:300047,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 20", +GARD:0022668,Orphanet+OMIM,OMIM:300115,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 50","Mental retardation, x-linked 50" +GARD:0022669,Orphanet+OMIM,OMIM:300143,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 21","mental retardation, x-linked 34|Mental retardation, x-linked 21" +GARD:0022670,Orphanet+OMIM,OMIM:300210,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 58","Mental retardation, x-linked 58" +GARD:0022671,Orphanet+OMIM,OMIM:300271,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 72","Mental retardation, x-linked 72" +GARD:0022672,Orphanet+OMIM,OMIM:300324,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 53", +GARD:0022673,Orphanet+OMIM,OMIM:300355,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 73", +GARD:0022674,Orphanet+OMIM,OMIM:300372,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 42", +GARD:0022675,Orphanet+OMIM,OMIM:300428,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 2", +GARD:0022676,Orphanet+OMIM,OMIM:300433,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 81", +GARD:0022677,Orphanet+OMIM,OMIM:300436,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 46", +GARD:0022678,Orphanet+OMIM,OMIM:300454,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 77", +GARD:0022679,Orphanet+OMIM,OMIM:300498,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 45", +GARD:0022680,Orphanet+OMIM,OMIM:300505,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 84", +GARD:0022681,Orphanet+OMIM,OMIM:300518,Subtype of disorder,Etiological subtype,"Mental retardation, x-linked 82", +GARD:0022682,Orphanet+OMIM,OMIM:300558,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 30","Mental retardation, x-linked 30|mental retardation, x-linked 47" +GARD:0022683,Orphanet+OMIM,OMIM:300705,Subtype of disorder,Etiological subtype,Chromosome xp11.22 duplication syndrome, +GARD:0022684,Orphanet+OMIM,OMIM:300716,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 95", +GARD:0022685,Orphanet+OMIM,OMIM:300802,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 96","Mental retardation, x-linked 96" +GARD:0022686,Orphanet+OMIM,OMIM:300803,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 97","mental retardation, x-linked 65|Mental retardation, x-linked 97|mrxz" +GARD:0022687,Orphanet+OMIM,OMIM:300844,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 19","Mental retardation, x-linked 19" +GARD:0022688,Orphanet+OMIM,OMIM:300848,Subtype of disorder,Etiological subtype,"Mental retardation, x-linked 89", +GARD:0022689,Orphanet+OMIM,OMIM:300849,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 41","Mental retardation, x-linked 41|mental retardation, x-linked 48" +GARD:0022690,Orphanet+OMIM,OMIM:300850,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 90","Mental retardation, x-linked 90" +GARD:0022691,Orphanet+OMIM,OMIM:300851,Subtype of disorder,Etiological subtype,"Mental retardation, x-linked 92", +GARD:0022692,Orphanet+OMIM,OMIM:300852,Subtype of disorder,Etiological subtype,"Mental retardation, x-linked 88", +GARD:0022693,Orphanet+OMIM,OMIM:300919,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 99","Mental retardation, x-linked 99" +GARD:0022694,Orphanet+OMIM,OMIM:300928,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 101","Mental retardation, x-linked 101" +GARD:0022695,Orphanet+OMIM,OMIM:300978,Subtype of disorder,Etiological subtype,Tonne-kalscheuer syndrome,"mental retardation, x-linked 61|Intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia" +GARD:0022696,Orphanet+OMIM,OMIM:300983,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 104","Mental retardation, x-linked 104" +GARD:0022697,Orphanet+OMIM,OMIM:300984,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 105","Mental retardation, x-linked 105" +GARD:0022698,Orphanet+OMIM,OMIM:301013,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 107","Mental retardation, x-linked 107" +GARD:0022699,Orphanet+OMIM,OMIM:309530,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 1","mrx|mental retardation, x-linked 18|Mental retardation, x-linked 1|mental retardation, x-linked 78" +GARD:0022700,Orphanet+OMIM,OMIM:309549,Subtype of disorder,Etiological subtype,"Intellectual developmental disorder, x-linked 9","mental retardation, x-linked 44|Mental retardation, x-linked 9" +GARD:0030000,GARD,,Group of disorders,Category,Rare to-be-classified GARD Diseases, diff --git a/RDAS.GARD/src/GARD_classification.csv b/RDAS.GARD/src/GARD_classification.csv new file mode 100644 index 0000000..eaa01c1 --- /dev/null +++ b/RDAS.GARD/src/GARD_classification.csv @@ -0,0 +1,90867 @@ +GardID,Root,Parent,Child,RootTerm +GARD:0000001,GARD:0022531,GARD:0021322,,Rare genetic disease +GARD:0000001,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0000001,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0000001,GARD:0022508,GARD:0021322,,Rare inborn errors of metabolism +GARD:0000003,GARD:0022513,GARD:0019497,,Rare developmental defect during embryogenesis +GARD:0000003,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000003,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0000003,GARD:0022531,GARD:0019497,,Rare genetic disease +GARD:0000003,GARD:0022520,GARD:0019497,,Rare ophthalmic disorder +GARD:0000003,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000003,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0000003,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0000003,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0000003,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000005,GARD:0022531,GARD:0019457,GARD:0015376,Rare genetic disease +GARD:0000005,GARD:0022531,GARD:0021547,GARD:0002876,Rare genetic disease +GARD:0000005,GARD:0022531,GARD:0018890,GARD:0015376,Rare genetic disease +GARD:0000005,GARD:0022531,GARD:0019457,GARD:0015127,Rare genetic disease +GARD:0000005,GARD:0022524,GARD:0020382,GARD:0015127,Rare neurologic disease +GARD:0000005,GARD:0022522,GARD:0019457,GARD:0002876,Rare hematologic disease +GARD:0000005,GARD:0022520,GARD:0019529,GARD:0015376,Rare ophthalmic disorder +GARD:0000005,GARD:0022520,GARD:0019538,GARD:0002876,Rare ophthalmic disorder +GARD:0000005,GARD:0022531,GARD:0019529,GARD:0002876,Rare genetic disease +GARD:0000005,GARD:0022522,GARD:0019457,GARD:0015127,Rare hematologic disease +GARD:0000005,GARD:0022521,GARD:0018802,GARD:0002876,Rare endocrine disease +GARD:0000005,GARD:0022524,GARD:0020382,GARD:0002876,Rare neurologic disease +GARD:0000005,GARD:0022508,GARD:0018802,GARD:0015127,Rare inborn errors of metabolism +GARD:0000005,GARD:0022524,GARD:0020382,GARD:0015376,Rare neurologic disease +GARD:0000005,GARD:0022531,GARD:0018802,GARD:0002876,Rare genetic disease +GARD:0000005,GARD:0022531,GARD:0019538,GARD:0015376,Rare genetic disease +GARD:0000005,GARD:0022516,GARD:0019843,GARD:0002876,Rare gastroenterologic disease +GARD:0000005,GARD:0022531,GARD:0019457,GARD:0002876,Rare genetic disease +GARD:0000005,GARD:0022520,GARD:0019529,GARD:0002876,Rare ophthalmic disorder +GARD:0000005,GARD:0022524,GARD:0019413,GARD:0002876,Rare neurologic disease +GARD:0000005,GARD:0022531,GARD:0021547,GARD:0015127,Rare genetic disease +GARD:0000005,GARD:0022531,GARD:0019538,GARD:0015127,Rare genetic disease +GARD:0000005,GARD:0022524,GARD:0018890,GARD:0015376,Rare neurologic disease +GARD:0000005,GARD:0022508,GARD:0018802,GARD:0015376,Rare inborn errors of metabolism +GARD:0000005,GARD:0022524,GARD:0019413,GARD:0015376,Rare neurologic disease +GARD:0000005,GARD:0022531,GARD:0019413,GARD:0015127,Rare genetic disease +GARD:0000005,GARD:0022531,GARD:0018890,GARD:0015127,Rare genetic disease +GARD:0000005,GARD:0022531,GARD:0020382,GARD:0002876,Rare genetic disease +GARD:0000005,GARD:0022531,GARD:0018802,GARD:0015376,Rare genetic disease +GARD:0000005,GARD:0022520,GARD:0019529,GARD:0015127,Rare ophthalmic disorder +GARD:0000005,GARD:0022531,GARD:0021547,GARD:0015376,Rare genetic disease +GARD:0000005,GARD:0022524,GARD:0019413,GARD:0015127,Rare neurologic disease +GARD:0000005,GARD:0022531,GARD:0019529,GARD:0015376,Rare genetic disease +GARD:0000005,GARD:0022531,GARD:0020382,GARD:0015127,Rare genetic disease +GARD:0000005,GARD:0022531,GARD:0018890,GARD:0002876,Rare genetic disease +GARD:0000005,GARD:0022521,GARD:0018802,GARD:0015127,Rare endocrine disease +GARD:0000005,GARD:0022531,GARD:0019413,GARD:0015376,Rare genetic disease +GARD:0000005,GARD:0022516,GARD:0019843,GARD:0015127,Rare gastroenterologic disease +GARD:0000005,GARD:0022531,GARD:0019538,GARD:0002876,Rare genetic disease +GARD:0000005,GARD:0022531,GARD:0019529,GARD:0015127,Rare genetic disease +GARD:0000005,GARD:0022522,GARD:0019457,GARD:0015376,Rare hematologic disease +GARD:0000005,GARD:0022508,GARD:0018802,GARD:0002876,Rare inborn errors of metabolism +GARD:0000005,GARD:0022531,GARD:0020382,GARD:0015376,Rare genetic disease +GARD:0000005,GARD:0022524,GARD:0018890,GARD:0002876,Rare neurologic disease +GARD:0000005,GARD:0022531,GARD:0018802,GARD:0015127,Rare genetic disease +GARD:0000005,GARD:0022516,GARD:0019843,GARD:0015376,Rare gastroenterologic disease +GARD:0000005,GARD:0022520,GARD:0019538,GARD:0015376,Rare ophthalmic disorder +GARD:0000005,GARD:0022531,GARD:0019413,GARD:0002876,Rare genetic disease +GARD:0000005,GARD:0022521,GARD:0018802,GARD:0015376,Rare endocrine disease +GARD:0000005,GARD:0022520,GARD:0019538,GARD:0015127,Rare ophthalmic disorder +GARD:0000005,GARD:0022524,GARD:0018890,GARD:0015127,Rare neurologic disease +GARD:0000006,GARD:0022531,GARD:0021567,GARD:0009879,Rare genetic disease +GARD:0000006,GARD:0022531,GARD:0021567,GARD:0000506,Rare genetic disease +GARD:0000006,GARD:0022511,GARD:0021567,GARD:0000983,Rare bone disease +GARD:0000006,GARD:0022511,GARD:0021567,GARD:0001300,Rare bone disease +GARD:0000006,GARD:0022531,GARD:0021567,GARD:0001300,Rare genetic disease +GARD:0000006,GARD:0022511,GARD:0021567,GARD:0004302,Rare bone disease +GARD:0000006,GARD:0022513,GARD:0021567,GARD:0001300,Rare developmental defect during embryogenesis +GARD:0000006,GARD:0022511,GARD:0021567,GARD:0000507,Rare bone disease +GARD:0000006,GARD:0022531,GARD:0021567,GARD:0000983,Rare genetic disease +GARD:0000006,GARD:0022511,GARD:0021567,GARD:0000506,Rare bone disease +GARD:0000006,GARD:0022513,GARD:0021567,GARD:0009879,Rare developmental defect during embryogenesis +GARD:0000006,GARD:0022513,GARD:0021567,GARD:0000983,Rare developmental defect during embryogenesis +GARD:0000006,GARD:0022513,GARD:0021567,GARD:0000506,Rare developmental defect during embryogenesis +GARD:0000006,GARD:0022513,GARD:0021567,GARD:0004302,Rare developmental defect during embryogenesis +GARD:0000006,GARD:0022531,GARD:0021567,GARD:0004302,Rare genetic disease +GARD:0000006,GARD:0022511,GARD:0021567,GARD:0009879,Rare bone disease +GARD:0000006,GARD:0022513,GARD:0021567,GARD:0000507,Rare developmental defect during embryogenesis +GARD:0000006,GARD:0022531,GARD:0021567,GARD:0000507,Rare genetic disease +GARD:0000007,GARD:0022513,GARD:0019194,,Rare developmental defect during embryogenesis +GARD:0000007,GARD:0022511,GARD:0019194,,Rare bone disease +GARD:0000007,GARD:0022531,GARD:0019194,,Rare genetic disease +GARD:0000011,GARD:0022531,GARD:0020446,GARD:0015845,Rare genetic disease +GARD:0000011,GARD:0022524,GARD:0020446,GARD:0015845,Rare neurologic disease +GARD:0000011,GARD:0022524,GARD:0020446,GARD:0015036,Rare neurologic disease +GARD:0000011,GARD:0022531,GARD:0020446,GARD:0015036,Rare genetic disease +GARD:0000012,GARD:0022530,GARD:0019398,GARD:0019703,Rare allergic disease +GARD:0000012,GARD:0022530,GARD:0019398,GARD:0019704,Rare allergic disease +GARD:0000012,GARD:0022536,GARD:0020943,GARD:0019704,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000012,GARD:0022517,GARD:0020943,GARD:0019704,Rare respiratory disease +GARD:0000012,GARD:0022536,GARD:0020943,GARD:0019703,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000012,GARD:0022517,GARD:0020943,GARD:0019703,Rare respiratory disease +GARD:0000013,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0000013,GARD:0022513,GARD:0019494,,Rare developmental defect during embryogenesis +GARD:0000013,GARD:0022531,GARD:0019494,,Rare genetic disease +GARD:0000013,GARD:0022520,GARD:0019494,,Rare ophthalmic disorder +GARD:0000013,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0000016,GARD:0022531,GARD:0019547,,Rare genetic disease +GARD:0000016,GARD:0022520,GARD:0019547,,Rare ophthalmic disorder +GARD:0000017,GARD:0022524,GARD:0020988,GARD:0009701,Rare neurologic disease +GARD:0000017,GARD:0022521,GARD:0019280,GARD:0009701,Rare endocrine disease +GARD:0000017,GARD:0022531,GARD:0021003,GARD:0009701,Rare genetic disease +GARD:0000017,GARD:0022513,GARD:0020988,GARD:0009701,Rare developmental defect during embryogenesis +GARD:0000019,GARD:0022531,GARD:0018967,,Rare genetic disease +GARD:0000019,GARD:0022508,GARD:0018967,,Rare inborn errors of metabolism +GARD:0000022,GARD:0022508,GARD:0021322,,Rare inborn errors of metabolism +GARD:0000022,GARD:0022510,GARD:0018998,,Rare skin disease +GARD:0000022,GARD:0022531,GARD:0021322,,Rare genetic disease +GARD:0000022,GARD:0022531,GARD:0018998,,Rare genetic disease +GARD:0000023,GARD:0022513,GARD:0019507,GARD:0010213,Rare developmental defect during embryogenesis +GARD:0000023,GARD:0022513,GARD:0019505,GARD:0010213,Rare developmental defect during embryogenesis +GARD:0000023,GARD:0022520,GARD:0019505,GARD:0018008,Rare ophthalmic disorder +GARD:0000023,GARD:0022531,GARD:0019507,GARD:0018008,Rare genetic disease +GARD:0000023,GARD:0022531,GARD:0019505,GARD:0018008,Rare genetic disease +GARD:0000023,GARD:0022513,GARD:0019505,GARD:0018008,Rare developmental defect during embryogenesis +GARD:0000023,GARD:0022520,GARD:0019505,GARD:0010213,Rare ophthalmic disorder +GARD:0000023,GARD:0022531,GARD:0019507,GARD:0010213,Rare genetic disease +GARD:0000023,GARD:0022520,GARD:0019507,GARD:0010213,Rare ophthalmic disorder +GARD:0000023,GARD:0022513,GARD:0019507,GARD:0018008,Rare developmental defect during embryogenesis +GARD:0000023,GARD:0022520,GARD:0019507,GARD:0018008,Rare ophthalmic disorder +GARD:0000023,GARD:0022531,GARD:0019505,GARD:0010213,Rare genetic disease +GARD:0000026,GARD:0022531,GARD:0020906,,Rare genetic disease +GARD:0000026,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0000026,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0000026,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000026,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000026,GARD:0022531,GARD:0022084,,Rare genetic disease +GARD:0000026,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0000026,GARD:0022513,GARD:0020906,,Rare developmental defect during embryogenesis +GARD:0000026,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0000026,GARD:0022520,GARD:0022084,,Rare ophthalmic disorder +GARD:0000026,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0000026,GARD:0022513,GARD:0022084,,Rare developmental defect during embryogenesis +GARD:0000026,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0000027,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0000028,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0000028,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0000028,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0000028,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0000028,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0000028,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000028,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0000028,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000028,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000028,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0000029,GARD:0022529,GARD:0020219,,Rare infertility +GARD:0000029,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000029,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0000029,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000029,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0000029,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0000029,GARD:0022531,GARD:0021511,,Rare genetic disease +GARD:0000029,GARD:0022523,GARD:0021511,,Rare immune disease +GARD:0000029,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0000029,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0000029,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0000029,GARD:0022531,GARD:0020219,,Rare genetic disease +GARD:0000029,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0000029,GARD:0022513,GARD:0019536,,Rare developmental defect during embryogenesis +GARD:0000029,GARD:0022531,GARD:0019536,,Rare genetic disease +GARD:0000029,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000029,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0000029,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0000029,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0000029,GARD:0022531,GARD:0021680,,Rare genetic disease +GARD:0000029,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0000029,GARD:0022514,GARD:0020219,,Rare gynecologic or obstetric disease +GARD:0000029,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0000029,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0000029,GARD:0022520,GARD:0019536,,Rare ophthalmic disorder +GARD:0000029,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0000029,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0000029,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0000029,GARD:0022521,GARD:0020219,,Rare endocrine disease +GARD:0000029,GARD:0022529,GARD:0021680,,Rare infertility +GARD:0000029,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000031,GARD:0022520,GARD:0019111,,Rare ophthalmic disorder +GARD:0000035,GARD:0022531,GARD:0020871,,Rare genetic disease +GARD:0000035,GARD:0022513,GARD:0020871,,Rare developmental defect during embryogenesis +GARD:0000037,GARD:0022531,GARD:0020791,GARD:0003750,Rare genetic disease +GARD:0000037,GARD:0022513,GARD:0020791,GARD:0021813,Rare developmental defect during embryogenesis +GARD:0000037,GARD:0022513,GARD:0020791,GARD:0003750,Rare developmental defect during embryogenesis +GARD:0000037,GARD:0022531,GARD:0020791,GARD:0021813,Rare genetic disease +GARD:0000039,GARD:0022513,GARD:0019212,,Rare developmental defect during embryogenesis +GARD:0000039,GARD:0022536,GARD:0018889,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000039,GARD:0022531,GARD:0018889,,Rare genetic disease +GARD:0000039,GARD:0022531,GARD:0019212,,Rare genetic disease +GARD:0000039,GARD:0022511,GARD:0019212,,Rare bone disease +GARD:0000039,GARD:0022522,GARD:0018889,,Rare hematologic disease +GARD:0000042,GARD:0022531,GARD:0020866,,Rare genetic disease +GARD:0000042,GARD:0022513,GARD:0020866,,Rare developmental defect during embryogenesis +GARD:0000043,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0000043,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0000044,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0000044,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0000044,GARD:0022508,GARD:0021334,,Rare inborn errors of metabolism +GARD:0000044,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0000044,GARD:0022531,GARD:0021334,,Rare genetic disease +GARD:0000044,GARD:0022531,GARD:0021293,,Rare genetic disease +GARD:0000044,GARD:0022510,GARD:0021293,,Rare skin disease +GARD:0000045,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000045,GARD:0022505,GARD:0020626,,Rare teratologic disease +GARD:0000045,GARD:0022513,GARD:0020626,,Rare developmental defect during embryogenesis +GARD:0000045,GARD:0022509,GARD:0020626,,Rare infectious disease +GARD:0000047,GARD:0022536,GARD:0016526,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000047,GARD:0022508,GARD:0016526,,Rare inborn errors of metabolism +GARD:0000047,GARD:0022506,GARD:0016526,,Rare hepatic disease +GARD:0000047,GARD:0022531,GARD:0016526,,Rare genetic disease +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016404,Rare inborn errors of metabolism +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016414,Rare genetic disease +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016410,Rare inborn errors of metabolism +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016448,Rare genetic disease +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016405,Rare inborn errors of metabolism +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016408,Rare genetic disease +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016415,Rare genetic disease +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016408,Rare inborn errors of metabolism +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016404,Rare genetic disease +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016416,Rare genetic disease +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016415,Rare inborn errors of metabolism +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016417,Rare inborn errors of metabolism +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016413,Rare genetic disease +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016412,Rare inborn errors of metabolism +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016412,Rare genetic disease +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016416,Rare inborn errors of metabolism +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0015158,Rare inborn errors of metabolism +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016406,Rare inborn errors of metabolism +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016417,Rare genetic disease +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016405,Rare genetic disease +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016411,Rare inborn errors of metabolism +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016407,Rare genetic disease +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016406,Rare genetic disease +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016407,Rare inborn errors of metabolism +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016409,Rare genetic disease +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016409,Rare inborn errors of metabolism +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016410,Rare genetic disease +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016414,Rare inborn errors of metabolism +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0015158,Rare genetic disease +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016413,Rare inborn errors of metabolism +GARD:0000048,GARD:0022508,GARD:0020766,GARD:0016448,Rare inborn errors of metabolism +GARD:0000048,GARD:0022531,GARD:0020766,GARD:0016411,Rare genetic disease +GARD:0000049,GARD:0022531,GARD:0019529,GARD:0016638,Rare genetic disease +GARD:0000049,GARD:0022508,GARD:0021157,GARD:0016638,Rare inborn errors of metabolism +GARD:0000049,GARD:0022510,GARD:0019017,GARD:0017340,Rare skin disease +GARD:0000049,GARD:0022513,GARD:0019832,GARD:0016638,Rare developmental defect during embryogenesis +GARD:0000049,GARD:0022518,GARD:0006227,GARD:0016638,Rare surgical thoracic disease +GARD:0000049,GARD:0022524,GARD:0019832,GARD:0016638,Rare neurologic disease +GARD:0000049,GARD:0022520,GARD:0019529,GARD:0017340,Rare ophthalmic disorder +GARD:0000049,GARD:0022534,GARD:0006227,GARD:0017340,Rare abdominal surgical disease +GARD:0000049,GARD:0022513,GARD:0006227,GARD:0016638,Rare developmental defect during embryogenesis +GARD:0000049,GARD:0022534,GARD:0006227,GARD:0016638,Rare abdominal surgical disease +GARD:0000049,GARD:0022531,GARD:0021157,GARD:0016638,Rare genetic disease +GARD:0000049,GARD:0022510,GARD:0006227,GARD:0016638,Rare skin disease +GARD:0000049,GARD:0022531,GARD:0022441,GARD:0016638,Rare genetic disease +GARD:0000049,GARD:0022531,GARD:0020382,GARD:0017340,Rare genetic disease +GARD:0000049,GARD:0022531,GARD:0019529,GARD:0017340,Rare genetic disease +GARD:0000049,GARD:0022531,GARD:0019017,GARD:0017340,Rare genetic disease +GARD:0000049,GARD:0022510,GARD:0006227,GARD:0017340,Rare skin disease +GARD:0000049,GARD:0022531,GARD:0021157,GARD:0017340,Rare genetic disease +GARD:0000049,GARD:0022513,GARD:0006227,GARD:0017340,Rare developmental defect during embryogenesis +GARD:0000049,GARD:0022524,GARD:0018890,GARD:0017340,Rare neurologic disease +GARD:0000049,GARD:0022531,GARD:0019521,GARD:0016638,Rare genetic disease +GARD:0000049,GARD:0022531,GARD:0019017,GARD:0016638,Rare genetic disease +GARD:0000049,GARD:0022531,GARD:0006227,GARD:0017340,Rare genetic disease +GARD:0000049,GARD:0022513,GARD:0019832,GARD:0017340,Rare developmental defect during embryogenesis +GARD:0000049,GARD:0022531,GARD:0018890,GARD:0017340,Rare genetic disease +GARD:0000049,GARD:0022520,GARD:0019521,GARD:0017340,Rare ophthalmic disorder +GARD:0000049,GARD:0022520,GARD:0019529,GARD:0016638,Rare ophthalmic disorder +GARD:0000049,GARD:0022531,GARD:0020382,GARD:0016638,Rare genetic disease +GARD:0000049,GARD:0022524,GARD:0020382,GARD:0016638,Rare neurologic disease +GARD:0000049,GARD:0022520,GARD:0019521,GARD:0016638,Rare ophthalmic disorder +GARD:0000049,GARD:0022524,GARD:0020382,GARD:0017340,Rare neurologic disease +GARD:0000049,GARD:0022531,GARD:0022441,GARD:0017340,Rare genetic disease +GARD:0000049,GARD:0022524,GARD:0019832,GARD:0017340,Rare neurologic disease +GARD:0000049,GARD:0022510,GARD:0019017,GARD:0016638,Rare skin disease +GARD:0000049,GARD:0022508,GARD:0021157,GARD:0017340,Rare inborn errors of metabolism +GARD:0000049,GARD:0022518,GARD:0006227,GARD:0017340,Rare surgical thoracic disease +GARD:0000049,GARD:0022531,GARD:0019521,GARD:0017340,Rare genetic disease +GARD:0000049,GARD:0022531,GARD:0006227,GARD:0016638,Rare genetic disease +GARD:0000049,GARD:0022531,GARD:0018890,GARD:0016638,Rare genetic disease +GARD:0000049,GARD:0022524,GARD:0018890,GARD:0016638,Rare neurologic disease +GARD:0000054,GARD:0022534,GARD:0019857,,Rare abdominal surgical disease +GARD:0000054,GARD:0022531,GARD:0019857,,Rare genetic disease +GARD:0000054,GARD:0022531,GARD:0019859,,Rare genetic disease +GARD:0000054,GARD:0022534,GARD:0019859,,Rare abdominal surgical disease +GARD:0000054,GARD:0022513,GARD:0019857,,Rare developmental defect during embryogenesis +GARD:0000054,GARD:0022513,GARD:0019859,,Rare developmental defect during embryogenesis +GARD:0000054,GARD:0022536,GARD:0019859,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000059,GARD:0022531,GARD:0020262,,Rare genetic disease +GARD:0000059,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0000059,GARD:0022510,GARD:0018986,,Rare skin disease +GARD:0000059,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0000060,GARD:0022531,GARD:0022189,GARD:0006033,Rare genetic disease +GARD:0000060,GARD:0022531,GARD:0022189,GARD:0019611,Rare genetic disease +GARD:0000060,GARD:0022513,GARD:0019522,GARD:0006125,Rare developmental defect during embryogenesis +GARD:0000060,GARD:0022520,GARD:0019522,GARD:0006125,Rare ophthalmic disorder +GARD:0000060,GARD:0022513,GARD:0019522,GARD:0006033,Rare developmental defect during embryogenesis +GARD:0000060,GARD:0022520,GARD:0019522,GARD:0019611,Rare ophthalmic disorder +GARD:0000060,GARD:0022513,GARD:0019522,GARD:0019611,Rare developmental defect during embryogenesis +GARD:0000060,GARD:0022531,GARD:0022189,GARD:0006125,Rare genetic disease +GARD:0000060,GARD:0022520,GARD:0019522,GARD:0006033,Rare ophthalmic disorder +GARD:0000061,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0000061,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0000061,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0000061,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0000061,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000061,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0000061,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0000061,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000061,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0000062,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000062,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0000062,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000062,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0000062,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000062,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0000064,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000064,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0000064,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000064,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0000064,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0000064,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022513,GARD:0019832,GARD:0016248,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022531,GARD:0022441,GARD:0016247,Rare genetic disease +GARD:0000065,GARD:0022524,GARD:0019832,GARD:0016249,Rare neurologic disease +GARD:0000065,GARD:0022531,GARD:0022293,GARD:0015199,Rare genetic disease +GARD:0000065,GARD:0022513,GARD:0021001,GARD:0015199,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022513,GARD:0019832,GARD:0016247,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022524,GARD:0021001,GARD:0016345,Rare neurologic disease +GARD:0000065,GARD:0022524,GARD:0019832,GARD:0016343,Rare neurologic disease +GARD:0000065,GARD:0022531,GARD:0022441,GARD:0016344,Rare genetic disease +GARD:0000065,GARD:0022513,GARD:0021001,GARD:0016345,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022512,GARD:0022293,GARD:0016343,Rare renal disease +GARD:0000065,GARD:0022524,GARD:0021001,GARD:0015281,Rare neurologic disease +GARD:0000065,GARD:0022531,GARD:0022441,GARD:0015199,Rare genetic disease +GARD:0000065,GARD:0022524,GARD:0019832,GARD:0016248,Rare neurologic disease +GARD:0000065,GARD:0022513,GARD:0019832,GARD:0016249,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022513,GARD:0021001,GARD:0016249,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022536,GARD:0022293,GARD:0015281,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000065,GARD:0022524,GARD:0019832,GARD:0016344,Rare neurologic disease +GARD:0000065,GARD:0022512,GARD:0022293,GARD:0015199,Rare renal disease +GARD:0000065,GARD:0022513,GARD:0021001,GARD:0016248,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022513,GARD:0021001,GARD:0016343,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022513,GARD:0019832,GARD:0015199,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022536,GARD:0022293,GARD:0016344,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000065,GARD:0022531,GARD:0022293,GARD:0016247,Rare genetic disease +GARD:0000065,GARD:0022536,GARD:0022293,GARD:0016249,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000065,GARD:0022536,GARD:0022293,GARD:0016248,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000065,GARD:0022513,GARD:0021001,GARD:0016344,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022531,GARD:0022441,GARD:0016343,Rare genetic disease +GARD:0000065,GARD:0022524,GARD:0021001,GARD:0016247,Rare neurologic disease +GARD:0000065,GARD:0022531,GARD:0022441,GARD:0015281,Rare genetic disease +GARD:0000065,GARD:0022536,GARD:0022293,GARD:0015199,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000065,GARD:0022512,GARD:0022293,GARD:0016345,Rare renal disease +GARD:0000065,GARD:0022536,GARD:0022293,GARD:0016345,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000065,GARD:0022524,GARD:0021001,GARD:0015199,Rare neurologic disease +GARD:0000065,GARD:0022524,GARD:0021001,GARD:0016343,Rare neurologic disease +GARD:0000065,GARD:0022512,GARD:0022293,GARD:0016247,Rare renal disease +GARD:0000065,GARD:0022524,GARD:0021001,GARD:0016248,Rare neurologic disease +GARD:0000065,GARD:0022524,GARD:0021001,GARD:0016344,Rare neurologic disease +GARD:0000065,GARD:0022513,GARD:0021001,GARD:0016247,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022524,GARD:0019832,GARD:0015281,Rare neurologic disease +GARD:0000065,GARD:0022512,GARD:0022293,GARD:0015281,Rare renal disease +GARD:0000065,GARD:0022524,GARD:0019832,GARD:0015199,Rare neurologic disease +GARD:0000065,GARD:0022524,GARD:0019832,GARD:0016247,Rare neurologic disease +GARD:0000065,GARD:0022512,GARD:0022293,GARD:0016249,Rare renal disease +GARD:0000065,GARD:0022512,GARD:0022293,GARD:0016248,Rare renal disease +GARD:0000065,GARD:0022513,GARD:0019832,GARD:0015281,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022524,GARD:0021001,GARD:0016249,Rare neurologic disease +GARD:0000065,GARD:0022531,GARD:0022293,GARD:0016248,Rare genetic disease +GARD:0000065,GARD:0022536,GARD:0022293,GARD:0016247,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000065,GARD:0022513,GARD:0021001,GARD:0015281,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022531,GARD:0022293,GARD:0016345,Rare genetic disease +GARD:0000065,GARD:0022531,GARD:0022293,GARD:0016343,Rare genetic disease +GARD:0000065,GARD:0022513,GARD:0019832,GARD:0016344,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022531,GARD:0022293,GARD:0016249,Rare genetic disease +GARD:0000065,GARD:0022531,GARD:0022293,GARD:0016344,Rare genetic disease +GARD:0000065,GARD:0022513,GARD:0019832,GARD:0016345,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022531,GARD:0022441,GARD:0016248,Rare genetic disease +GARD:0000065,GARD:0022513,GARD:0019832,GARD:0016343,Rare developmental defect during embryogenesis +GARD:0000065,GARD:0022512,GARD:0022293,GARD:0016344,Rare renal disease +GARD:0000065,GARD:0022531,GARD:0022293,GARD:0015281,Rare genetic disease +GARD:0000065,GARD:0022524,GARD:0019832,GARD:0016345,Rare neurologic disease +GARD:0000065,GARD:0022531,GARD:0022441,GARD:0016249,Rare genetic disease +GARD:0000065,GARD:0022531,GARD:0022441,GARD:0016345,Rare genetic disease +GARD:0000065,GARD:0022536,GARD:0022293,GARD:0016343,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000066,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000066,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000066,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000066,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000066,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000068,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0000068,GARD:0022513,GARD:0004116,,Rare developmental defect during embryogenesis +GARD:0000068,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0000068,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000068,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0000068,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000068,GARD:0022507,GARD:0004116,,Rare maxillo-facial surgical disease +GARD:0000068,GARD:0022511,GARD:0004116,,Rare bone disease +GARD:0000068,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000068,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0000068,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0000068,GARD:0022531,GARD:0004116,,Rare genetic disease +GARD:0000069,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0000070,GARD:0022522,GARD:0020675,,Rare hematologic disease +GARD:0000073,GARD:0022523,GARD:0017084,,Rare immune disease +GARD:0000073,GARD:0022531,GARD:0017084,,Rare genetic disease +GARD:0000073,GARD:0022536,GARD:0017084,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000076,GARD:0022531,GARD:0006317,GARD:0010427,Rare genetic disease +GARD:0000076,GARD:0022513,GARD:0006317,GARD:0002048,Rare developmental defect during embryogenesis +GARD:0000076,GARD:0022520,GARD:0019510,GARD:0002048,Rare ophthalmic disorder +GARD:0000076,GARD:0022513,GARD:0006317,GARD:0002057,Rare developmental defect during embryogenesis +GARD:0000076,GARD:0022520,GARD:0019510,GARD:0002057,Rare ophthalmic disorder +GARD:0000076,GARD:0022513,GARD:0006317,GARD:0010427,Rare developmental defect during embryogenesis +GARD:0000076,GARD:0022510,GARD:0006317,GARD:0002057,Rare skin disease +GARD:0000076,GARD:0022531,GARD:0006317,GARD:0002057,Rare genetic disease +GARD:0000076,GARD:0022520,GARD:0019510,GARD:0010427,Rare ophthalmic disorder +GARD:0000076,GARD:0022531,GARD:0019510,GARD:0002057,Rare genetic disease +GARD:0000076,GARD:0022510,GARD:0006317,GARD:0002048,Rare skin disease +GARD:0000076,GARD:0022510,GARD:0006317,GARD:0010427,Rare skin disease +GARD:0000076,GARD:0022526,GARD:0019388,GARD:0002057,Rare odontologic disease +GARD:0000076,GARD:0022531,GARD:0019510,GARD:0002048,Rare genetic disease +GARD:0000076,GARD:0022531,GARD:0006317,GARD:0002048,Rare genetic disease +GARD:0000076,GARD:0022531,GARD:0019510,GARD:0010427,Rare genetic disease +GARD:0000076,GARD:0022526,GARD:0019388,GARD:0010427,Rare odontologic disease +GARD:0000076,GARD:0022526,GARD:0019388,GARD:0002048,Rare odontologic disease +GARD:0000079,GARD:0022511,GARD:0019192,,Rare bone disease +GARD:0000079,GARD:0022531,GARD:0019192,,Rare genetic disease +GARD:0000079,GARD:0022513,GARD:0019192,,Rare developmental defect during embryogenesis +GARD:0000080,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0000080,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000080,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0000080,GARD:0022531,GARD:0019274,,Rare genetic disease +GARD:0000080,GARD:0022521,GARD:0020137,,Rare endocrine disease +GARD:0000080,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0000080,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000080,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000080,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0000080,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000080,GARD:0022521,GARD:0019274,,Rare endocrine disease +GARD:0000080,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000080,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000080,GARD:0022531,GARD:0020137,,Rare genetic disease +GARD:0000080,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000080,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0000081,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0000081,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0000082,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000082,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0000082,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000082,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0000082,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0000082,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000082,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0000082,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0000082,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0000083,GARD:0022511,GARD:0016594,,Rare bone disease +GARD:0000083,GARD:0022513,GARD:0016594,,Rare developmental defect during embryogenesis +GARD:0000083,GARD:0022521,GARD:0016594,,Rare endocrine disease +GARD:0000083,GARD:0022531,GARD:0016594,,Rare genetic disease +GARD:0000084,GARD:0022521,GARD:0013388,,Rare endocrine disease +GARD:0000084,GARD:0022524,GARD:0013388,,Rare neurologic disease +GARD:0000084,GARD:0022513,GARD:0013388,,Rare developmental defect during embryogenesis +GARD:0000084,GARD:0022510,GARD:0013388,,Rare skin disease +GARD:0000084,GARD:0022531,GARD:0013388,,Rare genetic disease +GARD:0000085,GARD:0022511,GARD:0019911,GARD:0009295,Rare bone disease +GARD:0000085,GARD:0022513,GARD:0021569,GARD:0009295,Rare developmental defect during embryogenesis +GARD:0000085,GARD:0022531,GARD:0019185,GARD:0001402,Rare genetic disease +GARD:0000085,GARD:0022511,GARD:0019911,GARD:0001402,Rare bone disease +GARD:0000085,GARD:0022513,GARD:0019911,GARD:0001402,Rare developmental defect during embryogenesis +GARD:0000085,GARD:0022531,GARD:0019185,GARD:0009295,Rare genetic disease +GARD:0000085,GARD:0022531,GARD:0019911,GARD:0001402,Rare genetic disease +GARD:0000085,GARD:0022531,GARD:0021569,GARD:0009295,Rare genetic disease +GARD:0000085,GARD:0022531,GARD:0021569,GARD:0001402,Rare genetic disease +GARD:0000085,GARD:0022513,GARD:0021569,GARD:0001402,Rare developmental defect during embryogenesis +GARD:0000085,GARD:0022511,GARD:0021569,GARD:0001402,Rare bone disease +GARD:0000085,GARD:0022511,GARD:0021569,GARD:0009295,Rare bone disease +GARD:0000085,GARD:0022513,GARD:0019911,GARD:0009295,Rare developmental defect during embryogenesis +GARD:0000085,GARD:0022531,GARD:0019911,GARD:0009295,Rare genetic disease +GARD:0000086,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0000086,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0000086,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0000086,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0000086,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0000086,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0000086,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0000086,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0000087,GARD:0022520,GARD:0019536,GARD:0015304,Rare ophthalmic disorder +GARD:0000087,GARD:0022524,GARD:0019832,GARD:0015304,Rare neurologic disease +GARD:0000087,GARD:0022513,GARD:0019536,GARD:0015304,Rare developmental defect during embryogenesis +GARD:0000087,GARD:0022531,GARD:0019536,GARD:0015304,Rare genetic disease +GARD:0000087,GARD:0022531,GARD:0022441,GARD:0015304,Rare genetic disease +GARD:0000087,GARD:0022520,GARD:0020342,GARD:0015304,Rare ophthalmic disorder +GARD:0000087,GARD:0022513,GARD:0020342,GARD:0015304,Rare developmental defect during embryogenesis +GARD:0000087,GARD:0022513,GARD:0019832,GARD:0015304,Rare developmental defect during embryogenesis +GARD:0000087,GARD:0022531,GARD:0020342,GARD:0015304,Rare genetic disease +GARD:0000088,GARD:0022513,GARD:0019212,,Rare developmental defect during embryogenesis +GARD:0000088,GARD:0022511,GARD:0019212,,Rare bone disease +GARD:0000088,GARD:0022531,GARD:0019212,,Rare genetic disease +GARD:0000092,GARD:0022510,GARD:0019450,,Rare skin disease +GARD:0000092,GARD:0022531,GARD:0019450,,Rare genetic disease +GARD:0000093,GARD:0022510,GARD:0018997,,Rare skin disease +GARD:0000093,GARD:0022531,GARD:0018997,,Rare genetic disease +GARD:0000094,GARD:0022531,GARD:0020550,,Rare genetic disease +GARD:0000094,GARD:0022524,GARD:0020550,,Rare neurologic disease +GARD:0000094,GARD:0022531,GARD:0018975,,Rare genetic disease +GARD:0000094,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0000094,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0000094,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0000094,GARD:0022508,GARD:0018975,,Rare inborn errors of metabolism +GARD:0000094,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0000094,GARD:0022513,GARD:0018975,,Rare developmental defect during embryogenesis +GARD:0000094,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0000094,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0000095,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0000095,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0000101,GARD:0022531,GARD:0005898,GARD:0012719,Rare genetic disease +GARD:0000101,GARD:0022531,GARD:0005898,GARD:0017443,Rare genetic disease +GARD:0000101,GARD:0022524,GARD:0005898,GARD:0022439,Rare neurologic disease +GARD:0000101,GARD:0022531,GARD:0005898,GARD:0011925,Rare genetic disease +GARD:0000101,GARD:0022524,GARD:0005898,GARD:0017443,Rare neurologic disease +GARD:0000101,GARD:0022531,GARD:0005898,GARD:0012718,Rare genetic disease +GARD:0000101,GARD:0022531,GARD:0005898,GARD:0022439,Rare genetic disease +GARD:0000101,GARD:0022524,GARD:0005898,GARD:0011925,Rare neurologic disease +GARD:0000101,GARD:0022524,GARD:0005898,GARD:0017792,Rare neurologic disease +GARD:0000101,GARD:0022524,GARD:0005898,GARD:0012719,Rare neurologic disease +GARD:0000101,GARD:0022531,GARD:0005898,GARD:0017792,Rare genetic disease +GARD:0000101,GARD:0022524,GARD:0005898,GARD:0012718,Rare neurologic disease +GARD:0000102,GARD:0022524,GARD:0019821,GARD:0022336,Rare neurologic disease +GARD:0000102,GARD:0022510,GARD:0021112,GARD:0022335,Rare skin disease +GARD:0000102,GARD:0022531,GARD:0019821,GARD:0022335,Rare genetic disease +GARD:0000102,GARD:0022531,GARD:0021112,GARD:0022337,Rare genetic disease +GARD:0000102,GARD:0022510,GARD:0021113,GARD:0022336,Rare skin disease +GARD:0000102,GARD:0022513,GARD:0019821,GARD:0022336,Rare developmental defect during embryogenesis +GARD:0000102,GARD:0022520,GARD:0019497,GARD:0022335,Rare ophthalmic disorder +GARD:0000102,GARD:0022531,GARD:0021112,GARD:0022335,Rare genetic disease +GARD:0000102,GARD:0022508,GARD:0018815,GARD:0022335,Rare inborn errors of metabolism +GARD:0000102,GARD:0022524,GARD:0018815,GARD:0022337,Rare neurologic disease +GARD:0000102,GARD:0022531,GARD:0019497,GARD:0022335,Rare genetic disease +GARD:0000102,GARD:0022510,GARD:0021113,GARD:0022337,Rare skin disease +GARD:0000102,GARD:0022513,GARD:0019497,GARD:0022335,Rare developmental defect during embryogenesis +GARD:0000102,GARD:0022531,GARD:0018815,GARD:0022336,Rare genetic disease +GARD:0000102,GARD:0022531,GARD:0019821,GARD:0022337,Rare genetic disease +GARD:0000102,GARD:0022513,GARD:0019821,GARD:0022335,Rare developmental defect during embryogenesis +GARD:0000102,GARD:0022508,GARD:0018815,GARD:0022336,Rare inborn errors of metabolism +GARD:0000102,GARD:0022531,GARD:0018815,GARD:0022337,Rare genetic disease +GARD:0000102,GARD:0022531,GARD:0019497,GARD:0022337,Rare genetic disease +GARD:0000102,GARD:0022531,GARD:0021113,GARD:0022336,Rare genetic disease +GARD:0000102,GARD:0022510,GARD:0021112,GARD:0022337,Rare skin disease +GARD:0000102,GARD:0022531,GARD:0021112,GARD:0022336,Rare genetic disease +GARD:0000102,GARD:0022510,GARD:0021113,GARD:0022335,Rare skin disease +GARD:0000102,GARD:0022510,GARD:0021112,GARD:0022336,Rare skin disease +GARD:0000102,GARD:0022513,GARD:0019497,GARD:0022336,Rare developmental defect during embryogenesis +GARD:0000102,GARD:0022524,GARD:0018815,GARD:0022336,Rare neurologic disease +GARD:0000102,GARD:0022531,GARD:0019821,GARD:0022336,Rare genetic disease +GARD:0000102,GARD:0022531,GARD:0021113,GARD:0022335,Rare genetic disease +GARD:0000102,GARD:0022508,GARD:0018815,GARD:0022337,Rare inborn errors of metabolism +GARD:0000102,GARD:0022524,GARD:0019821,GARD:0022335,Rare neurologic disease +GARD:0000102,GARD:0022531,GARD:0018815,GARD:0022335,Rare genetic disease +GARD:0000102,GARD:0022524,GARD:0018815,GARD:0022335,Rare neurologic disease +GARD:0000102,GARD:0022520,GARD:0019497,GARD:0022337,Rare ophthalmic disorder +GARD:0000102,GARD:0022531,GARD:0019497,GARD:0022336,Rare genetic disease +GARD:0000102,GARD:0022531,GARD:0021113,GARD:0022337,Rare genetic disease +GARD:0000102,GARD:0022524,GARD:0019821,GARD:0022337,Rare neurologic disease +GARD:0000102,GARD:0022520,GARD:0019497,GARD:0022336,Rare ophthalmic disorder +GARD:0000102,GARD:0022513,GARD:0019497,GARD:0022337,Rare developmental defect during embryogenesis +GARD:0000102,GARD:0022513,GARD:0019821,GARD:0022337,Rare developmental defect during embryogenesis +GARD:0000104,GARD:0022531,GARD:0019218,GARD:0015907,Rare genetic disease +GARD:0000104,GARD:0022536,GARD:0019218,GARD:0015907,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000104,GARD:0022512,GARD:0019218,GARD:0015907,Rare renal disease +GARD:0000104,GARD:0022513,GARD:0019218,GARD:0015907,Rare developmental defect during embryogenesis +GARD:0000105,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000105,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0000105,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000105,GARD:0022520,GARD:0021125,,Rare ophthalmic disorder +GARD:0000105,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0000105,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0000105,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000105,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000105,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000105,GARD:0022531,GARD:0021125,,Rare genetic disease +GARD:0000105,GARD:0022510,GARD:0021125,,Rare skin disease +GARD:0000106,GARD:0022524,GARD:0020083,,Rare neurologic disease +GARD:0000106,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0000106,GARD:0022531,GARD:0020083,,Rare genetic disease +GARD:0000106,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0000108,GARD:0022531,GARD:0002520,,Rare genetic disease +GARD:0000108,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0000108,GARD:0022508,GARD:0002520,,Rare inborn errors of metabolism +GARD:0000108,GARD:0022524,GARD:0002520,,Rare neurologic disease +GARD:0000108,GARD:0022506,GARD:0002520,,Rare hepatic disease +GARD:0000108,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0000108,GARD:0022515,GARD:0002520,,Rare cardiac disease +GARD:0000108,GARD:0022536,GARD:0002520,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000109,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0000109,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0000109,GARD:0022531,GARD:0021568,,Rare genetic disease +GARD:0000109,GARD:0022531,GARD:0021970,,Rare genetic disease +GARD:0000109,GARD:0022513,GARD:0021568,,Rare developmental defect during embryogenesis +GARD:0000109,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0000109,GARD:0022510,GARD:0019010,,Rare skin disease +GARD:0000109,GARD:0022511,GARD:0021568,,Rare bone disease +GARD:0000111,GARD:0022528,GARD:0022528,,Rare otorhinolaryngologic disease +GARD:0000111,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0000112,GARD:0022517,GARD:0020922,,Rare respiratory disease +GARD:0000112,GARD:0022536,GARD:0020922,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000114,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0000114,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0000114,GARD:0022524,GARD:0012444,,Rare neurologic disease +GARD:0000114,GARD:0022531,GARD:0018965,,Rare genetic disease +GARD:0000114,GARD:0022508,GARD:0018965,,Rare inborn errors of metabolism +GARD:0000114,GARD:0022528,GARD:0012444,,Rare otorhinolaryngologic disease +GARD:0000114,GARD:0022513,GARD:0012444,,Rare developmental defect during embryogenesis +GARD:0000114,GARD:0022531,GARD:0012444,,Rare genetic disease +GARD:0000116,GARD:0022524,GARD:0016621,,Rare neurologic disease +GARD:0000116,GARD:0022508,GARD:0016621,,Rare inborn errors of metabolism +GARD:0000116,GARD:0022520,GARD:0016621,,Rare ophthalmic disorder +GARD:0000116,GARD:0022531,GARD:0016621,,Rare genetic disease +GARD:0000117,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0000117,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0000117,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000117,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0000117,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000117,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000117,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0000117,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000117,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0000117,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000117,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000117,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000118,GARD:0022514,GARD:0020194,,Rare gynecologic or obstetric disease +GARD:0000118,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0000118,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0000118,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0000118,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000118,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0000118,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000118,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0000118,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000118,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000118,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0000121,GARD:0022531,GARD:0008416,,Rare genetic disease +GARD:0000121,GARD:0022510,GARD:0008416,,Rare skin disease +GARD:0000121,GARD:0022513,GARD:0008416,,Rare developmental defect during embryogenesis +GARD:0000122,GARD:0022531,GARD:0019201,GARD:0016078,Rare genetic disease +GARD:0000122,GARD:0021079,GARD:0021986,GARD:0016078,Rare systemic or rheumatological disease of childhood +GARD:0000122,GARD:0022531,GARD:0020117,GARD:0016078,Rare genetic disease +GARD:0000122,GARD:0022511,GARD:0019201,GARD:0016078,Rare bone disease +GARD:0000122,GARD:0022513,GARD:0019201,GARD:0016078,Rare developmental defect during embryogenesis +GARD:0000122,GARD:0022531,GARD:0021957,GARD:0016078,Rare genetic disease +GARD:0000122,GARD:0022523,GARD:0020117,GARD:0016078,Rare immune disease +GARD:0000122,GARD:0022525,GARD:0021957,GARD:0016078,Rare systemic or rheumatologic disease +GARD:0000125,GARD:0022531,GARD:0021298,,Rare genetic disease +GARD:0000125,GARD:0022510,GARD:0018987,,Rare skin disease +GARD:0000125,GARD:0022531,GARD:0020263,,Rare genetic disease +GARD:0000125,GARD:0022510,GARD:0021298,,Rare skin disease +GARD:0000125,GARD:0022510,GARD:0020577,,Rare skin disease +GARD:0000127,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0000127,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0000127,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0000132,GARD:0022510,GARD:0019010,GARD:0019885,Rare skin disease +GARD:0000132,GARD:0022510,GARD:0019010,GARD:0018839,Rare skin disease +GARD:0000132,GARD:0022510,GARD:0019010,GARD:0017533,Rare skin disease +GARD:0000132,GARD:0022510,GARD:0019010,GARD:0017466,Rare skin disease +GARD:0000132,GARD:0022510,GARD:0019010,GARD:0010562,Rare skin disease +GARD:0000134,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0000134,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0000134,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0000134,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0000139,GARD:0022531,GARD:0021013,,Rare genetic disease +GARD:0000139,GARD:0022535,GARD:0020097,,Rare neoplastic disease +GARD:0000139,GARD:0022515,GARD:0020097,,Rare cardiac disease +GARD:0000140,GARD:0022531,GARD:0019859,,Rare genetic disease +GARD:0000140,GARD:0022516,GARD:0021578,,Rare gastroenterologic disease +GARD:0000140,GARD:0022536,GARD:0021578,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000140,GARD:0022536,GARD:0019859,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000140,GARD:0022531,GARD:0021578,,Rare genetic disease +GARD:0000140,GARD:0022513,GARD:0019859,,Rare developmental defect during embryogenesis +GARD:0000140,GARD:0022534,GARD:0019859,,Rare abdominal surgical disease +GARD:0000143,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000143,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000143,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000143,GARD:0022531,GARD:0018996,,Rare genetic disease +GARD:0000143,GARD:0022510,GARD:0018996,,Rare skin disease +GARD:0000144,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000144,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000144,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000155,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0000155,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0000155,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022513,GARD:0012782,GARD:0015204,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022531,GARD:0019529,GARD:0015625,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0019529,GARD:0015624,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0012588,GARD:0015948,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0012782,GARD:0015626,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0021340,GARD:0015948,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0020403,GARD:0015626,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0022157,GARD:0015948,Rare genetic disease +GARD:0000156,GARD:0022520,GARD:0019529,GARD:0015205,Rare ophthalmic disorder +GARD:0000156,GARD:0022513,GARD:0012782,GARD:0015915,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022520,GARD:0019542,GARD:0015625,Rare ophthalmic disorder +GARD:0000156,GARD:0022531,GARD:0020424,GARD:0015204,Rare genetic disease +GARD:0000156,GARD:0022508,GARD:0021340,GARD:0015915,Rare inborn errors of metabolism +GARD:0000156,GARD:0022531,GARD:0012588,GARD:0015626,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0019529,GARD:0015626,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0022157,GARD:0015624,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0021604,GARD:0015626,Rare genetic disease +GARD:0000156,GARD:0022524,GARD:0021604,GARD:0015948,Rare neurologic disease +GARD:0000156,GARD:0022531,GARD:0020421,GARD:0015626,Rare genetic disease +GARD:0000156,GARD:0022513,GARD:0012588,GARD:0015915,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022524,GARD:0012588,GARD:0015915,Rare neurologic disease +GARD:0000156,GARD:0022520,GARD:0019529,GARD:0015948,Rare ophthalmic disorder +GARD:0000156,GARD:0022513,GARD:0012782,GARD:0015205,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022531,GARD:0020421,GARD:0015624,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0020404,GARD:0015204,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0020424,GARD:0015625,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0021604,GARD:0015204,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0020424,GARD:0015626,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0020403,GARD:0015915,Rare genetic disease +GARD:0000156,GARD:0022520,GARD:0019529,GARD:0015625,Rare ophthalmic disorder +GARD:0000156,GARD:0022513,GARD:0012782,GARD:0015626,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022520,GARD:0019524,GARD:0015915,Rare ophthalmic disorder +GARD:0000156,GARD:0022513,GARD:0012588,GARD:0015204,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022531,GARD:0021340,GARD:0015915,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0012588,GARD:0015204,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0022157,GARD:0015205,Rare genetic disease +GARD:0000156,GARD:0022520,GARD:0019524,GARD:0015205,Rare ophthalmic disorder +GARD:0000156,GARD:0022524,GARD:0012588,GARD:0015626,Rare neurologic disease +GARD:0000156,GARD:0022531,GARD:0021604,GARD:0015915,Rare genetic disease +GARD:0000156,GARD:0022524,GARD:0021604,GARD:0015625,Rare neurologic disease +GARD:0000156,GARD:0022531,GARD:0020404,GARD:0015625,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0012782,GARD:0015948,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0020424,GARD:0015948,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0020403,GARD:0015624,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0020403,GARD:0015205,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0021340,GARD:0015626,Rare genetic disease +GARD:0000156,GARD:0022520,GARD:0019524,GARD:0015625,Rare ophthalmic disorder +GARD:0000156,GARD:0022508,GARD:0021340,GARD:0015205,Rare inborn errors of metabolism +GARD:0000156,GARD:0022508,GARD:0021340,GARD:0015204,Rare inborn errors of metabolism +GARD:0000156,GARD:0022531,GARD:0019529,GARD:0015915,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0021340,GARD:0015624,Rare genetic disease +GARD:0000156,GARD:0022520,GARD:0019542,GARD:0015948,Rare ophthalmic disorder +GARD:0000156,GARD:0022508,GARD:0021340,GARD:0015625,Rare inborn errors of metabolism +GARD:0000156,GARD:0022520,GARD:0019542,GARD:0015626,Rare ophthalmic disorder +GARD:0000156,GARD:0022531,GARD:0019529,GARD:0015204,Rare genetic disease +GARD:0000156,GARD:0022520,GARD:0019529,GARD:0015626,Rare ophthalmic disorder +GARD:0000156,GARD:0022531,GARD:0020403,GARD:0015204,Rare genetic disease +GARD:0000156,GARD:0022524,GARD:0012588,GARD:0015205,Rare neurologic disease +GARD:0000156,GARD:0022531,GARD:0020421,GARD:0015204,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0012782,GARD:0015624,Rare genetic disease +GARD:0000156,GARD:0022520,GARD:0019542,GARD:0015915,Rare ophthalmic disorder +GARD:0000156,GARD:0022531,GARD:0020424,GARD:0015205,Rare genetic disease +GARD:0000156,GARD:0022520,GARD:0019529,GARD:0015624,Rare ophthalmic disorder +GARD:0000156,GARD:0022524,GARD:0012588,GARD:0015204,Rare neurologic disease +GARD:0000156,GARD:0022524,GARD:0021604,GARD:0015624,Rare neurologic disease +GARD:0000156,GARD:0022531,GARD:0019524,GARD:0015204,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0020421,GARD:0015625,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0021604,GARD:0015624,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0022157,GARD:0015915,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0012588,GARD:0015624,Rare genetic disease +GARD:0000156,GARD:0022520,GARD:0019524,GARD:0015204,Rare ophthalmic disorder +GARD:0000156,GARD:0022531,GARD:0020404,GARD:0015948,Rare genetic disease +GARD:0000156,GARD:0022508,GARD:0021340,GARD:0015624,Rare inborn errors of metabolism +GARD:0000156,GARD:0022531,GARD:0020404,GARD:0015626,Rare genetic disease +GARD:0000156,GARD:0022524,GARD:0012588,GARD:0015625,Rare neurologic disease +GARD:0000156,GARD:0022531,GARD:0020404,GARD:0015205,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0021604,GARD:0015948,Rare genetic disease +GARD:0000156,GARD:0022513,GARD:0012588,GARD:0015625,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022531,GARD:0012588,GARD:0015915,Rare genetic disease +GARD:0000156,GARD:0022520,GARD:0019524,GARD:0015624,Rare ophthalmic disorder +GARD:0000156,GARD:0022531,GARD:0019524,GARD:0015625,Rare genetic disease +GARD:0000156,GARD:0022524,GARD:0012588,GARD:0015624,Rare neurologic disease +GARD:0000156,GARD:0022531,GARD:0019529,GARD:0015205,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0021340,GARD:0015204,Rare genetic disease +GARD:0000156,GARD:0022520,GARD:0019529,GARD:0015915,Rare ophthalmic disorder +GARD:0000156,GARD:0022520,GARD:0019524,GARD:0015626,Rare ophthalmic disorder +GARD:0000156,GARD:0022520,GARD:0019542,GARD:0015205,Rare ophthalmic disorder +GARD:0000156,GARD:0022531,GARD:0019524,GARD:0015626,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0020404,GARD:0015915,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0012782,GARD:0015205,Rare genetic disease +GARD:0000156,GARD:0022520,GARD:0019542,GARD:0015624,Rare ophthalmic disorder +GARD:0000156,GARD:0022531,GARD:0020421,GARD:0015915,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0022157,GARD:0015625,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0019529,GARD:0015948,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0021340,GARD:0015625,Rare genetic disease +GARD:0000156,GARD:0022524,GARD:0021604,GARD:0015204,Rare neurologic disease +GARD:0000156,GARD:0022531,GARD:0012782,GARD:0015915,Rare genetic disease +GARD:0000156,GARD:0022520,GARD:0019524,GARD:0015948,Rare ophthalmic disorder +GARD:0000156,GARD:0022531,GARD:0019524,GARD:0015948,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0019524,GARD:0015205,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0012588,GARD:0015625,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0020403,GARD:0015948,Rare genetic disease +GARD:0000156,GARD:0022524,GARD:0021604,GARD:0015205,Rare neurologic disease +GARD:0000156,GARD:0022531,GARD:0021604,GARD:0015205,Rare genetic disease +GARD:0000156,GARD:0022513,GARD:0012588,GARD:0015948,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022524,GARD:0021604,GARD:0015626,Rare neurologic disease +GARD:0000156,GARD:0022531,GARD:0020424,GARD:0015624,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0020403,GARD:0015625,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0020421,GARD:0015205,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0019524,GARD:0015624,Rare genetic disease +GARD:0000156,GARD:0022520,GARD:0019542,GARD:0015204,Rare ophthalmic disorder +GARD:0000156,GARD:0022531,GARD:0012588,GARD:0015205,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0019524,GARD:0015915,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0012782,GARD:0015625,Rare genetic disease +GARD:0000156,GARD:0022513,GARD:0012782,GARD:0015948,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022513,GARD:0012588,GARD:0015626,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022524,GARD:0012588,GARD:0015948,Rare neurologic disease +GARD:0000156,GARD:0022531,GARD:0020421,GARD:0015948,Rare genetic disease +GARD:0000156,GARD:0022508,GARD:0021340,GARD:0015948,Rare inborn errors of metabolism +GARD:0000156,GARD:0022513,GARD:0012588,GARD:0015624,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022520,GARD:0019529,GARD:0015204,Rare ophthalmic disorder +GARD:0000156,GARD:0022531,GARD:0022157,GARD:0015626,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0020424,GARD:0015915,Rare genetic disease +GARD:0000156,GARD:0022513,GARD:0012588,GARD:0015205,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022513,GARD:0012782,GARD:0015624,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022524,GARD:0021604,GARD:0015915,Rare neurologic disease +GARD:0000156,GARD:0022531,GARD:0021340,GARD:0015205,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0021604,GARD:0015625,Rare genetic disease +GARD:0000156,GARD:0022531,GARD:0012782,GARD:0015204,Rare genetic disease +GARD:0000156,GARD:0022508,GARD:0021340,GARD:0015626,Rare inborn errors of metabolism +GARD:0000156,GARD:0022531,GARD:0020404,GARD:0015624,Rare genetic disease +GARD:0000156,GARD:0022513,GARD:0012782,GARD:0015625,Rare developmental defect during embryogenesis +GARD:0000156,GARD:0022531,GARD:0022157,GARD:0015204,Rare genetic disease +GARD:0000157,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0000157,GARD:0022534,GARD:0022248,,Rare abdominal surgical disease +GARD:0000157,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000157,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0000157,GARD:0022536,GARD:0019846,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000157,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0000157,GARD:0022516,GARD:0019846,,Rare gastroenterologic disease +GARD:0000157,GARD:0022531,GARD:0019846,,Rare genetic disease +GARD:0000157,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000157,GARD:0022531,GARD:0022248,,Rare genetic disease +GARD:0000157,GARD:0022513,GARD:0022248,,Rare developmental defect during embryogenesis +GARD:0000157,GARD:0022536,GARD:0022248,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000158,GARD:0022531,GARD:0018968,,Rare genetic disease +GARD:0000158,GARD:0022508,GARD:0018968,,Rare inborn errors of metabolism +GARD:0000159,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000159,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000159,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000159,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000159,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000159,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000159,GARD:0022510,GARD:0019009,,Rare skin disease +GARD:0000159,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000159,GARD:0022514,GARD:0020194,,Rare gynecologic or obstetric disease +GARD:0000159,GARD:0022531,GARD:0020274,,Rare genetic disease +GARD:0000160,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0000160,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0000160,GARD:0022521,GARD:0019294,,Rare endocrine disease +GARD:0000160,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0000160,GARD:0022514,GARD:0019294,,Rare gynecologic or obstetric disease +GARD:0000162,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0000162,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0000162,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0000162,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0000166,GARD:0022531,GARD:0020088,GARD:0017876,Rare genetic disease +GARD:0000166,GARD:0022524,GARD:0020088,GARD:0017879,Rare neurologic disease +GARD:0000166,GARD:0022524,GARD:0020088,GARD:0017876,Rare neurologic disease +GARD:0000166,GARD:0022531,GARD:0020088,GARD:0017879,Rare genetic disease +GARD:0000166,GARD:0022531,GARD:0020987,GARD:0017876,Rare genetic disease +GARD:0000166,GARD:0022524,GARD:0020987,GARD:0017879,Rare neurologic disease +GARD:0000166,GARD:0022513,GARD:0020987,GARD:0017879,Rare developmental defect during embryogenesis +GARD:0000166,GARD:0022531,GARD:0020987,GARD:0017879,Rare genetic disease +GARD:0000166,GARD:0022520,GARD:0019542,GARD:0017876,Rare ophthalmic disorder +GARD:0000166,GARD:0022513,GARD:0020987,GARD:0017876,Rare developmental defect during embryogenesis +GARD:0000166,GARD:0022520,GARD:0019542,GARD:0017879,Rare ophthalmic disorder +GARD:0000166,GARD:0022524,GARD:0020987,GARD:0017876,Rare neurologic disease +GARD:0000169,GARD:0022531,GARD:0021339,,Rare genetic disease +GARD:0000169,GARD:0022531,GARD:0021609,,Rare genetic disease +GARD:0000169,GARD:0022508,GARD:0021339,,Rare inborn errors of metabolism +GARD:0000169,GARD:0022513,GARD:0019193,,Rare developmental defect during embryogenesis +GARD:0000169,GARD:0022513,GARD:0021609,,Rare developmental defect during embryogenesis +GARD:0000169,GARD:0022511,GARD:0019193,,Rare bone disease +GARD:0000169,GARD:0022531,GARD:0019193,,Rare genetic disease +GARD:0000172,GARD:0022524,GARD:0021002,,Rare neurologic disease +GARD:0000172,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000172,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000172,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000172,GARD:0022513,GARD:0021002,,Rare developmental defect during embryogenesis +GARD:0000175,GARD:0022531,GARD:0010870,,Rare genetic disease +GARD:0000175,GARD:0022524,GARD:0010870,,Rare neurologic disease +GARD:0000175,GARD:0022508,GARD:0010870,,Rare inborn errors of metabolism +GARD:0000175,GARD:0022531,GARD:0019203,,Rare genetic disease +GARD:0000175,GARD:0022511,GARD:0019203,,Rare bone disease +GARD:0000176,GARD:0022524,GARD:0020359,,Rare neurologic disease +GARD:0000177,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0000177,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0000177,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0000177,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0000177,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0000177,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0000177,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0000177,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0000177,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0000178,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0000178,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0000178,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0000180,GARD:0022522,GARD:0021967,,Rare hematologic disease +GARD:0000180,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0000180,GARD:0022531,GARD:0021967,,Rare genetic disease +GARD:0000180,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0000180,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0000180,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000180,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0000180,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0000181,GARD:0022531,GARD:0022097,GARD:0015359,Rare genetic disease +GARD:0000181,GARD:0022531,GARD:0022097,GARD:0015314,Rare genetic disease +GARD:0000181,GARD:0022531,GARD:0022105,GARD:0015314,Rare genetic disease +GARD:0000181,GARD:0022531,GARD:0022105,GARD:0015359,Rare genetic disease +GARD:0000181,GARD:0022520,GARD:0022105,GARD:0015359,Rare ophthalmic disorder +GARD:0000181,GARD:0022520,GARD:0022097,GARD:0015359,Rare ophthalmic disorder +GARD:0000181,GARD:0022520,GARD:0022105,GARD:0015314,Rare ophthalmic disorder +GARD:0000181,GARD:0022520,GARD:0022097,GARD:0015314,Rare ophthalmic disorder +GARD:0000182,GARD:0022531,GARD:0022097,,Rare genetic disease +GARD:0000182,GARD:0022520,GARD:0022097,,Rare ophthalmic disorder +GARD:0000184,GARD:0022513,GARD:0022297,,Rare developmental defect during embryogenesis +GARD:0000184,GARD:0022536,GARD:0020923,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000184,GARD:0022510,GARD:0022297,,Rare skin disease +GARD:0000184,GARD:0022527,GARD:0022297,,Rare circulatory system disease +GARD:0000184,GARD:0022517,GARD:0020923,,Rare respiratory disease +GARD:0000184,GARD:0022510,GARD:0019001,,Rare skin disease +GARD:0000184,GARD:0022531,GARD:0022297,,Rare genetic disease +GARD:0000192,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0000192,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000192,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000192,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000192,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0000192,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0000192,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000192,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000192,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0000192,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000192,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0000193,GARD:0022531,GARD:0019505,,Rare genetic disease +GARD:0000193,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0000193,GARD:0022520,GARD:0019505,,Rare ophthalmic disorder +GARD:0000193,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000193,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000193,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0000193,GARD:0022513,GARD:0019868,,Rare developmental defect during embryogenesis +GARD:0000193,GARD:0022513,GARD:0019505,,Rare developmental defect during embryogenesis +GARD:0000193,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0000193,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000193,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0000193,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000193,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0000193,GARD:0022518,GARD:0019868,,Rare surgical thoracic disease +GARD:0000193,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0000194,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0000194,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0000194,GARD:0022531,GARD:0021303,,Rare genetic disease +GARD:0000194,GARD:0022524,GARD:0020557,,Rare neurologic disease +GARD:0000194,GARD:0022508,GARD:0018955,,Rare inborn errors of metabolism +GARD:0000194,GARD:0022531,GARD:0018955,,Rare genetic disease +GARD:0000194,GARD:0022508,GARD:0021303,,Rare inborn errors of metabolism +GARD:0000194,GARD:0022531,GARD:0020557,,Rare genetic disease +GARD:0000195,GARD:0022524,GARD:0020374,,Rare neurologic disease +GARD:0000195,GARD:0022531,GARD:0019563,,Rare genetic disease +GARD:0000195,GARD:0022524,GARD:0019563,,Rare neurologic disease +GARD:0000195,GARD:0022531,GARD:0021613,,Rare genetic disease +GARD:0000198,GARD:0022524,GARD:0004531,,Rare neurologic disease +GARD:0000198,GARD:0022531,GARD:0004531,,Rare genetic disease +GARD:0000200,GARD:0022520,GARD:0022096,,Rare ophthalmic disorder +GARD:0000200,GARD:0022531,GARD:0022096,,Rare genetic disease +GARD:0000201,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0000201,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0000201,GARD:0022531,GARD:0022161,,Rare genetic disease +GARD:0000201,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000201,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000201,GARD:0022513,GARD:0019501,,Rare developmental defect during embryogenesis +GARD:0000201,GARD:0022520,GARD:0019501,,Rare ophthalmic disorder +GARD:0000206,GARD:0022531,GARD:0019228,GARD:0018645,Rare genetic disease +GARD:0000206,GARD:0022531,GARD:0019986,GARD:0018645,Rare genetic disease +GARD:0000206,GARD:0022531,GARD:0019992,GARD:0016825,Rare genetic disease +GARD:0000206,GARD:0022512,GARD:0019228,GARD:0016824,Rare renal disease +GARD:0000206,GARD:0022536,GARD:0022061,GARD:0018645,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000206,GARD:0022531,GARD:0019986,GARD:0016824,Rare genetic disease +GARD:0000206,GARD:0022531,GARD:0019228,GARD:0016824,Rare genetic disease +GARD:0000206,GARD:0022512,GARD:0019228,GARD:0018645,Rare renal disease +GARD:0000206,GARD:0022531,GARD:0019986,GARD:0016825,Rare genetic disease +GARD:0000206,GARD:0022531,GARD:0019992,GARD:0016824,Rare genetic disease +GARD:0000206,GARD:0022512,GARD:0019228,GARD:0016825,Rare renal disease +GARD:0000206,GARD:0022536,GARD:0022061,GARD:0016825,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000206,GARD:0022531,GARD:0019228,GARD:0016825,Rare genetic disease +GARD:0000206,GARD:0022536,GARD:0022061,GARD:0016824,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000206,GARD:0022531,GARD:0019992,GARD:0018645,Rare genetic disease +GARD:0000207,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0000212,GARD:0022520,GARD:0019521,,Rare ophthalmic disorder +GARD:0000212,GARD:0022531,GARD:0019521,,Rare genetic disease +GARD:0000212,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0000212,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0000212,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0000213,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0000213,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0000213,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0000213,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0000213,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000213,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0000213,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0000213,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000215,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0000215,GARD:0022531,GARD:0021862,,Rare genetic disease +GARD:0000215,GARD:0022536,GARD:0021862,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000215,GARD:0022534,GARD:0021862,,Rare abdominal surgical disease +GARD:0000215,GARD:0022513,GARD:0021862,,Rare developmental defect during embryogenesis +GARD:0000215,GARD:0022532,GARD:0021862,,Rare urogenital disease +GARD:0000215,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0000215,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0000216,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0000216,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0000216,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0000216,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000216,GARD:0022513,GARD:0021572,,Rare developmental defect during embryogenesis +GARD:0000216,GARD:0022511,GARD:0021572,,Rare bone disease +GARD:0000216,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000218,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0000218,GARD:0022531,GARD:0021347,,Rare genetic disease +GARD:0000218,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0000218,GARD:0022508,GARD:0021347,,Rare inborn errors of metabolism +GARD:0000220,GARD:0022514,GARD:0020049,,Rare gynecologic or obstetric disease +GARD:0000220,GARD:0022536,GARD:0022065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000220,GARD:0022515,GARD:0020530,,Rare cardiac disease +GARD:0000221,GARD:0022515,GARD:0020096,GARD:0020530,Rare cardiac disease +GARD:0000221,GARD:0022515,GARD:0020096,GARD:0020525,Rare cardiac disease +GARD:0000223,GARD:0022535,GARD:0019405,,Rare neoplastic disease +GARD:0000223,GARD:0022528,GARD:0019405,,Rare otorhinolaryngologic disease +GARD:0000223,GARD:0022524,GARD:0004767,,Rare neurologic disease +GARD:0000223,GARD:0022535,GARD:0004767,,Rare neoplastic disease +GARD:0000224,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0000224,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0000224,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0000225,GARD:0022513,GARD:0018761,,Rare developmental defect during embryogenesis +GARD:0000225,GARD:0022531,GARD:0018761,,Rare genetic disease +GARD:0000225,GARD:0022511,GARD:0018761,,Rare bone disease +GARD:0000226,GARD:0022510,GARD:0018996,,Rare skin disease +GARD:0000226,GARD:0022531,GARD:0018996,,Rare genetic disease +GARD:0000226,GARD:0022521,GARD:0020214,,Rare endocrine disease +GARD:0000226,GARD:0022531,GARD:0020214,,Rare genetic disease +GARD:0000229,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0000229,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000229,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0000229,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000230,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000230,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0000230,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0000230,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000230,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000230,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0000231,GARD:0022531,GARD:0006895,GARD:0016980,Rare genetic disease +GARD:0000231,GARD:0022531,GARD:0006895,GARD:0016979,Rare genetic disease +GARD:0000231,GARD:0022524,GARD:0006895,GARD:0016919,Rare neurologic disease +GARD:0000231,GARD:0022524,GARD:0006895,GARD:0016918,Rare neurologic disease +GARD:0000231,GARD:0022524,GARD:0006895,GARD:0016979,Rare neurologic disease +GARD:0000231,GARD:0022524,GARD:0006895,GARD:0016978,Rare neurologic disease +GARD:0000231,GARD:0022531,GARD:0006895,GARD:0016978,Rare genetic disease +GARD:0000231,GARD:0022531,GARD:0006895,GARD:0016919,Rare genetic disease +GARD:0000231,GARD:0022524,GARD:0006895,GARD:0016980,Rare neurologic disease +GARD:0000231,GARD:0022531,GARD:0006895,GARD:0016918,Rare genetic disease +GARD:0000232,GARD:0022536,GARD:0019217,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000232,GARD:0022513,GARD:0019217,,Rare developmental defect during embryogenesis +GARD:0000232,GARD:0022531,GARD:0021540,,Rare genetic disease +GARD:0000232,GARD:0022512,GARD:0019217,,Rare renal disease +GARD:0000234,GARD:0022531,GARD:0021312,,Rare genetic disease +GARD:0000234,GARD:0022508,GARD:0021312,,Rare inborn errors of metabolism +GARD:0000236,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0000236,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000236,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0000236,GARD:0022520,GARD:0022094,,Rare ophthalmic disorder +GARD:0000236,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0000236,GARD:0022531,GARD:0022094,,Rare genetic disease +GARD:0000237,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000237,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000237,GARD:0022527,GARD:0022297,,Rare circulatory system disease +GARD:0000237,GARD:0022531,GARD:0022297,,Rare genetic disease +GARD:0000237,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000237,GARD:0022531,GARD:0020223,,Rare genetic disease +GARD:0000237,GARD:0022513,GARD:0022297,,Rare developmental defect during embryogenesis +GARD:0000237,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000237,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000237,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000237,GARD:0022521,GARD:0020223,,Rare endocrine disease +GARD:0000237,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000237,GARD:0022510,GARD:0022297,,Rare skin disease +GARD:0000238,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0000238,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0000238,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0000239,GARD:0022523,GARD:0021514,,Rare immune disease +GARD:0000239,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000239,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000239,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000239,GARD:0022531,GARD:0021514,,Rare genetic disease +GARD:0000241,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0000241,GARD:0022510,GARD:0019009,,Rare skin disease +GARD:0000241,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0000241,GARD:0022531,GARD:0020274,,Rare genetic disease +GARD:0000241,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0000243,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0000243,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0000243,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0000243,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000243,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000243,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000246,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0000246,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0000247,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0000247,GARD:0022518,GARD:0006227,,Rare surgical thoracic disease +GARD:0000247,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000247,GARD:0022510,GARD:0006227,,Rare skin disease +GARD:0000247,GARD:0022513,GARD:0006227,,Rare developmental defect during embryogenesis +GARD:0000247,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000247,GARD:0022531,GARD:0006227,,Rare genetic disease +GARD:0000247,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0000247,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0000247,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000247,GARD:0022534,GARD:0006227,,Rare abdominal surgical disease +GARD:0000248,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000248,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000248,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0000248,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000248,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0000248,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000248,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0000248,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000249,GARD:0022511,GARD:0001567,,Rare bone disease +GARD:0000249,GARD:0022513,GARD:0001567,,Rare developmental defect during embryogenesis +GARD:0000249,GARD:0022531,GARD:0001567,,Rare genetic disease +GARD:0000250,GARD:0022531,GARD:0020360,,Rare genetic disease +GARD:0000250,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0000250,GARD:0022524,GARD:0020360,,Rare neurologic disease +GARD:0000250,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000250,GARD:0022531,GARD:0020373,,Rare genetic disease +GARD:0000250,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0000250,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000250,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0000250,GARD:0022531,GARD:0019189,,Rare genetic disease +GARD:0000250,GARD:0022524,GARD:0020373,,Rare neurologic disease +GARD:0000250,GARD:0022531,GARD:0020398,,Rare genetic disease +GARD:0000257,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000257,GARD:0022513,GARD:0019194,,Rare developmental defect during embryogenesis +GARD:0000257,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000257,GARD:0022511,GARD:0019194,,Rare bone disease +GARD:0000257,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000257,GARD:0022531,GARD:0019194,,Rare genetic disease +GARD:0000258,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0000258,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0000258,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000258,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0000258,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000259,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0000259,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0000262,GARD:0022508,GARD:0020756,,Rare inborn errors of metabolism +GARD:0000262,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0000262,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0000262,GARD:0022531,GARD:0020556,,Rare genetic disease +GARD:0000262,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0000262,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0000262,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0000262,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0000262,GARD:0022531,GARD:0020555,,Rare genetic disease +GARD:0000262,GARD:0022524,GARD:0020555,,Rare neurologic disease +GARD:0000262,GARD:0022531,GARD:0020756,,Rare genetic disease +GARD:0000262,GARD:0022524,GARD:0020556,,Rare neurologic disease +GARD:0000264,GARD:0022531,GARD:0019191,,Rare genetic disease +GARD:0000264,GARD:0022511,GARD:0019191,,Rare bone disease +GARD:0000264,GARD:0022513,GARD:0019191,,Rare developmental defect during embryogenesis +GARD:0000265,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000265,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000265,GARD:0022510,GARD:0018998,,Rare skin disease +GARD:0000265,GARD:0022531,GARD:0018998,,Rare genetic disease +GARD:0000265,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000265,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0000265,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0000265,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0000267,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000267,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000267,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000267,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000267,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000269,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0000269,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0000269,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0000269,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0000269,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0000270,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000270,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000270,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000272,GARD:0022531,GARD:0022441,GARD:0015309,Rare genetic disease +GARD:0000272,GARD:0022513,GARD:0019874,GARD:0015309,Rare developmental defect during embryogenesis +GARD:0000272,GARD:0022536,GARD:0019874,GARD:0015309,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000272,GARD:0022531,GARD:0019874,GARD:0015309,Rare genetic disease +GARD:0000272,GARD:0022513,GARD:0019832,GARD:0015309,Rare developmental defect during embryogenesis +GARD:0000272,GARD:0022524,GARD:0019832,GARD:0015309,Rare neurologic disease +GARD:0000272,GARD:0022534,GARD:0019874,GARD:0015309,Rare abdominal surgical disease +GARD:0000273,GARD:0022511,GARD:0001638,,Rare bone disease +GARD:0000273,GARD:0022510,GARD:0001638,,Rare skin disease +GARD:0000273,GARD:0022518,GARD:0001638,,Rare surgical thoracic disease +GARD:0000273,GARD:0022508,GARD:0001638,,Rare inborn errors of metabolism +GARD:0000273,GARD:0022531,GARD:0001638,,Rare genetic disease +GARD:0000273,GARD:0022513,GARD:0001638,,Rare developmental defect during embryogenesis +GARD:0000273,GARD:0022524,GARD:0001638,,Rare neurologic disease +GARD:0000273,GARD:0022534,GARD:0001638,,Rare abdominal surgical disease +GARD:0000274,GARD:0022523,GARD:0021512,,Rare immune disease +GARD:0000274,GARD:0022531,GARD:0021512,,Rare genetic disease +GARD:0000276,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0000276,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0000276,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0000276,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0000277,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0000277,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000277,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0000277,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000277,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0000277,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000280,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000280,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000280,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000280,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000280,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000280,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000282,GARD:0022511,GARD:0019199,,Rare bone disease +GARD:0000282,GARD:0022531,GARD:0019199,,Rare genetic disease +GARD:0000282,GARD:0022513,GARD:0019199,,Rare developmental defect during embryogenesis +GARD:0000284,GARD:0022510,GARD:0022297,,Rare skin disease +GARD:0000284,GARD:0022527,GARD:0022297,,Rare circulatory system disease +GARD:0000284,GARD:0022513,GARD:0022297,,Rare developmental defect during embryogenesis +GARD:0000284,GARD:0022531,GARD:0022297,,Rare genetic disease +GARD:0000287,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000287,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0000287,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0000287,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000287,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0000288,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000288,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0000288,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000288,GARD:0022531,GARD:0019197,,Rare genetic disease +GARD:0000288,GARD:0022531,GARD:0019533,,Rare genetic disease +GARD:0000288,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000288,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000288,GARD:0022511,GARD:0019197,,Rare bone disease +GARD:0000288,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000288,GARD:0022510,GARD:0019017,,Rare skin disease +GARD:0000288,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0000288,GARD:0022513,GARD:0019197,,Rare developmental defect during embryogenesis +GARD:0000288,GARD:0022520,GARD:0019533,,Rare ophthalmic disorder +GARD:0000288,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000288,GARD:0022531,GARD:0019017,,Rare genetic disease +GARD:0000290,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000290,GARD:0022531,GARD:0019017,,Rare genetic disease +GARD:0000290,GARD:0022520,GARD:0019533,,Rare ophthalmic disorder +GARD:0000290,GARD:0022510,GARD:0019017,,Rare skin disease +GARD:0000290,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0000290,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000290,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0000290,GARD:0022513,GARD:0019197,,Rare developmental defect during embryogenesis +GARD:0000290,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000290,GARD:0022511,GARD:0019197,,Rare bone disease +GARD:0000290,GARD:0022531,GARD:0019533,,Rare genetic disease +GARD:0000290,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000290,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000290,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000290,GARD:0022531,GARD:0019197,,Rare genetic disease +GARD:0000292,GARD:0022520,GARD:0019503,,Rare ophthalmic disorder +GARD:0000292,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000292,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000292,GARD:0022531,GARD:0021112,,Rare genetic disease +GARD:0000292,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000292,GARD:0022510,GARD:0021112,,Rare skin disease +GARD:0000292,GARD:0022531,GARD:0019503,,Rare genetic disease +GARD:0000292,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0000292,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0000292,GARD:0022513,GARD:0019503,,Rare developmental defect during embryogenesis +GARD:0000296,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000296,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000298,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000298,GARD:0022531,GARD:0020233,,Rare genetic disease +GARD:0000298,GARD:0022521,GARD:0020233,,Rare endocrine disease +GARD:0000298,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000298,GARD:0022529,GARD:0020233,,Rare infertility +GARD:0000299,GARD:0022531,GARD:0002152,,Rare genetic disease +GARD:0000299,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0000299,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0000299,GARD:0022510,GARD:0002152,,Rare skin disease +GARD:0000299,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0000299,GARD:0022513,GARD:0002152,,Rare developmental defect during embryogenesis +GARD:0000302,GARD:0022536,GARD:0021834,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000302,GARD:0022523,GARD:0021834,,Rare immune disease +GARD:0000302,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0000302,GARD:0022531,GARD:0021834,,Rare genetic disease +GARD:0000302,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0000304,GARD:0022525,GARD:0021455,,Rare systemic or rheumatologic disease +GARD:0000304,GARD:0022520,GARD:0021103,,Rare ophthalmic disorder +GARD:0000304,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0000304,GARD:0022520,GARD:0021101,,Rare ophthalmic disorder +GARD:0000304,GARD:0022510,GARD:0019010,,Rare skin disease +GARD:0000304,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000304,GARD:0022531,GARD:0021970,,Rare genetic disease +GARD:0000304,GARD:0022531,GARD:0021161,,Rare genetic disease +GARD:0000304,GARD:0022531,GARD:0022488,,Rare genetic disease +GARD:0000304,GARD:0022523,GARD:0021161,,Rare immune disease +GARD:0000304,GARD:0022536,GARD:0020929,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000304,GARD:0021079,GARD:0021460,,Rare systemic or rheumatological disease of childhood +GARD:0000304,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000304,GARD:0022517,GARD:0020929,,Rare respiratory disease +GARD:0000305,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000305,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000305,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000306,GARD:0022525,GARD:0020257,,Rare systemic or rheumatologic disease +GARD:0000306,GARD:0022531,GARD:0021018,,Rare genetic disease +GARD:0000307,GARD:0022531,GARD:0021967,,Rare genetic disease +GARD:0000307,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0000307,GARD:0022522,GARD:0021967,,Rare hematologic disease +GARD:0000307,GARD:0022513,GARD:0020831,,Rare developmental defect during embryogenesis +GARD:0000307,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0000307,GARD:0022531,GARD:0020831,,Rare genetic disease +GARD:0000307,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0000310,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000310,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0000310,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000310,GARD:0022531,GARD:0021612,,Rare genetic disease +GARD:0000310,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0000310,GARD:0022519,GARD:0021607,,Rare surgical cardiac disease +GARD:0000310,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000310,GARD:0022510,GARD:0021610,,Rare skin disease +GARD:0000310,GARD:0022528,GARD:0021612,,Rare otorhinolaryngologic disease +GARD:0000310,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000310,GARD:0022508,GARD:0021342,,Rare inborn errors of metabolism +GARD:0000310,GARD:0022531,GARD:0021342,,Rare genetic disease +GARD:0000310,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000310,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0000310,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0000310,GARD:0022531,GARD:0021610,,Rare genetic disease +GARD:0000310,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000310,GARD:0022513,GARD:0021607,,Rare developmental defect during embryogenesis +GARD:0000310,GARD:0022513,GARD:0021612,,Rare developmental defect during embryogenesis +GARD:0000310,GARD:0022531,GARD:0021607,,Rare genetic disease +GARD:0000312,GARD:0022531,GARD:0019195,GARD:0016568,Rare genetic disease +GARD:0000312,GARD:0022511,GARD:0019195,GARD:0016568,Rare bone disease +GARD:0000312,GARD:0022524,GARD:0019832,GARD:0016620,Rare neurologic disease +GARD:0000312,GARD:0022511,GARD:0019195,GARD:0016620,Rare bone disease +GARD:0000312,GARD:0022513,GARD:0019195,GARD:0016620,Rare developmental defect during embryogenesis +GARD:0000312,GARD:0022513,GARD:0019195,GARD:0016568,Rare developmental defect during embryogenesis +GARD:0000312,GARD:0022531,GARD:0020299,GARD:0016568,Rare genetic disease +GARD:0000312,GARD:0022531,GARD:0019195,GARD:0016620,Rare genetic disease +GARD:0000312,GARD:0022531,GARD:0022441,GARD:0016620,Rare genetic disease +GARD:0000312,GARD:0022531,GARD:0020299,GARD:0016620,Rare genetic disease +GARD:0000312,GARD:0022513,GARD:0019832,GARD:0016568,Rare developmental defect during embryogenesis +GARD:0000312,GARD:0022513,GARD:0019902,GARD:0016620,Rare developmental defect during embryogenesis +GARD:0000312,GARD:0022531,GARD:0022441,GARD:0016568,Rare genetic disease +GARD:0000312,GARD:0022513,GARD:0019902,GARD:0016568,Rare developmental defect during embryogenesis +GARD:0000312,GARD:0022524,GARD:0019832,GARD:0016568,Rare neurologic disease +GARD:0000312,GARD:0022513,GARD:0019832,GARD:0016620,Rare developmental defect during embryogenesis +GARD:0000314,GARD:0022531,GARD:0021155,,Rare genetic disease +GARD:0000314,GARD:0022508,GARD:0021155,,Rare inborn errors of metabolism +GARD:0000319,GARD:0022536,GARD:0018711,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000319,GARD:0022535,GARD:0018711,,Rare neoplastic disease +GARD:0000320,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0000320,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000320,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0000320,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000320,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000320,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0000321,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0000321,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000321,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0000322,GARD:0022531,GARD:0019986,GARD:0015476,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019538,GARD:0015406,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019538,GARD:0016081,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019538,GARD:0015451,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019986,GARD:0015451,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019986,GARD:0016145,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019228,GARD:0015681,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019986,GARD:0015406,Rare genetic disease +GARD:0000322,GARD:0022536,GARD:0022061,GARD:0015405,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000322,GARD:0022531,GARD:0019992,GARD:0016145,Rare genetic disease +GARD:0000322,GARD:0022536,GARD:0022061,GARD:0016081,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000322,GARD:0022531,GARD:0019228,GARD:0015406,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019538,GARD:0015852,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019986,GARD:0016081,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019538,GARD:0015405,Rare genetic disease +GARD:0000322,GARD:0022536,GARD:0022061,GARD:0016145,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000322,GARD:0022531,GARD:0019992,GARD:0015681,Rare genetic disease +GARD:0000322,GARD:0022536,GARD:0022061,GARD:0015476,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000322,GARD:0022531,GARD:0019538,GARD:0016145,Rare genetic disease +GARD:0000322,GARD:0022520,GARD:0019538,GARD:0015406,Rare ophthalmic disorder +GARD:0000322,GARD:0022520,GARD:0019538,GARD:0015405,Rare ophthalmic disorder +GARD:0000322,GARD:0022531,GARD:0019992,GARD:0015476,Rare genetic disease +GARD:0000322,GARD:0022520,GARD:0019538,GARD:0016145,Rare ophthalmic disorder +GARD:0000322,GARD:0022520,GARD:0019538,GARD:0015476,Rare ophthalmic disorder +GARD:0000322,GARD:0022531,GARD:0019228,GARD:0016145,Rare genetic disease +GARD:0000322,GARD:0022512,GARD:0019228,GARD:0015852,Rare renal disease +GARD:0000322,GARD:0022512,GARD:0019228,GARD:0016081,Rare renal disease +GARD:0000322,GARD:0022512,GARD:0019228,GARD:0016145,Rare renal disease +GARD:0000322,GARD:0022512,GARD:0019228,GARD:0015405,Rare renal disease +GARD:0000322,GARD:0022531,GARD:0019538,GARD:0015681,Rare genetic disease +GARD:0000322,GARD:0022520,GARD:0019538,GARD:0015451,Rare ophthalmic disorder +GARD:0000322,GARD:0022520,GARD:0019538,GARD:0015681,Rare ophthalmic disorder +GARD:0000322,GARD:0022536,GARD:0022061,GARD:0015852,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000322,GARD:0022531,GARD:0019228,GARD:0015451,Rare genetic disease +GARD:0000322,GARD:0022536,GARD:0022061,GARD:0015406,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000322,GARD:0022531,GARD:0019992,GARD:0015852,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019986,GARD:0015405,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019992,GARD:0015406,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019228,GARD:0015476,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019986,GARD:0015681,Rare genetic disease +GARD:0000322,GARD:0022520,GARD:0019538,GARD:0016081,Rare ophthalmic disorder +GARD:0000322,GARD:0022531,GARD:0019992,GARD:0015451,Rare genetic disease +GARD:0000322,GARD:0022536,GARD:0022061,GARD:0015451,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000322,GARD:0022531,GARD:0019228,GARD:0015405,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019228,GARD:0015852,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019992,GARD:0015405,Rare genetic disease +GARD:0000322,GARD:0022512,GARD:0019228,GARD:0015681,Rare renal disease +GARD:0000322,GARD:0022512,GARD:0019228,GARD:0015476,Rare renal disease +GARD:0000322,GARD:0022512,GARD:0019228,GARD:0015451,Rare renal disease +GARD:0000322,GARD:0022531,GARD:0019228,GARD:0016081,Rare genetic disease +GARD:0000322,GARD:0022512,GARD:0019228,GARD:0015406,Rare renal disease +GARD:0000322,GARD:0022536,GARD:0022061,GARD:0015681,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000322,GARD:0022520,GARD:0019538,GARD:0015852,Rare ophthalmic disorder +GARD:0000322,GARD:0022531,GARD:0019992,GARD:0016081,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019538,GARD:0015476,Rare genetic disease +GARD:0000322,GARD:0022531,GARD:0019986,GARD:0015852,Rare genetic disease +GARD:0000324,GARD:0022531,GARD:0020219,,Rare genetic disease +GARD:0000324,GARD:0022529,GARD:0020219,,Rare infertility +GARD:0000324,GARD:0022521,GARD:0020219,,Rare endocrine disease +GARD:0000324,GARD:0022514,GARD:0020219,,Rare gynecologic or obstetric disease +GARD:0000325,GARD:0022514,GARD:0022450,,Rare gynecologic or obstetric disease +GARD:0000325,GARD:0022523,GARD:0022523,,Rare immune disease +GARD:0000329,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0000330,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0000330,GARD:0022510,GARD:0012597,,Rare skin disease +GARD:0000330,GARD:0022531,GARD:0019017,,Rare genetic disease +GARD:0000330,GARD:0022531,GARD:0012597,,Rare genetic disease +GARD:0000330,GARD:0022510,GARD:0019017,,Rare skin disease +GARD:0000330,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000330,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0000330,GARD:0022521,GARD:0012597,,Rare endocrine disease +GARD:0000330,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0000330,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000330,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000330,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0000331,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000331,GARD:0022511,GARD:0019206,,Rare bone disease +GARD:0000331,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000331,GARD:0022513,GARD:0019206,,Rare developmental defect during embryogenesis +GARD:0000331,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000331,GARD:0022531,GARD:0019206,,Rare genetic disease +GARD:0000332,GARD:0022531,GARD:0021970,,Rare genetic disease +GARD:0000332,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000332,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000332,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0000332,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0000332,GARD:0022510,GARD:0019010,,Rare skin disease +GARD:0000332,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0000333,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000333,GARD:0022520,GARD:0019508,,Rare ophthalmic disorder +GARD:0000333,GARD:0022513,GARD:0019508,,Rare developmental defect during embryogenesis +GARD:0000333,GARD:0022531,GARD:0019508,,Rare genetic disease +GARD:0000333,GARD:0022527,GARD:0021153,,Rare circulatory system disease +GARD:0000333,GARD:0022531,GARD:0021153,,Rare genetic disease +GARD:0000333,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000333,GARD:0022510,GARD:0021153,,Rare skin disease +GARD:0000333,GARD:0022513,GARD:0021153,,Rare developmental defect during embryogenesis +GARD:0000334,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0000334,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0000336,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0000336,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0000341,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0000341,GARD:0022529,GARD:0021677,,Rare infertility +GARD:0000341,GARD:0022531,GARD:0021689,,Rare genetic disease +GARD:0000341,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0000343,GARD:0022513,GARD:0010977,,Rare developmental defect during embryogenesis +GARD:0000343,GARD:0022524,GARD:0010977,,Rare neurologic disease +GARD:0000343,GARD:0022531,GARD:0010977,,Rare genetic disease +GARD:0000344,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000344,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000344,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000345,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0000345,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000345,GARD:0022510,GARD:0021114,,Rare skin disease +GARD:0000345,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000345,GARD:0022531,GARD:0021114,,Rare genetic disease +GARD:0000345,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0000345,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000346,GARD:0022536,GARD:0018889,GARD:0016136,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000346,GARD:0022523,GARD:0021510,GARD:0016095,Rare immune disease +GARD:0000346,GARD:0022531,GARD:0018889,GARD:0015742,Rare genetic disease +GARD:0000346,GARD:0022536,GARD:0018889,GARD:0015917,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000346,GARD:0022531,GARD:0022440,GARD:0016136,Rare genetic disease +GARD:0000346,GARD:0022524,GARD:0022440,GARD:0016095,Rare neurologic disease +GARD:0000346,GARD:0022531,GARD:0021510,GARD:0015741,Rare genetic disease +GARD:0000346,GARD:0022531,GARD:0021510,GARD:0016136,Rare genetic disease +GARD:0000346,GARD:0022522,GARD:0018889,GARD:0016095,Rare hematologic disease +GARD:0000346,GARD:0022522,GARD:0018889,GARD:0015917,Rare hematologic disease +GARD:0000346,GARD:0022524,GARD:0020999,GARD:0015741,Rare neurologic disease +GARD:0000346,GARD:0022531,GARD:0022440,GARD:0015742,Rare genetic disease +GARD:0000346,GARD:0022531,GARD:0021008,GARD:0015742,Rare genetic disease +GARD:0000346,GARD:0022513,GARD:0020999,GARD:0015741,Rare developmental defect during embryogenesis +GARD:0000346,GARD:0022531,GARD:0022440,GARD:0016095,Rare genetic disease +GARD:0000346,GARD:0022531,GARD:0021008,GARD:0016136,Rare genetic disease +GARD:0000346,GARD:0022531,GARD:0021510,GARD:0015742,Rare genetic disease +GARD:0000346,GARD:0022531,GARD:0021510,GARD:0015917,Rare genetic disease +GARD:0000346,GARD:0022513,GARD:0020999,GARD:0016136,Rare developmental defect during embryogenesis +GARD:0000346,GARD:0022531,GARD:0021008,GARD:0016095,Rare genetic disease +GARD:0000346,GARD:0022523,GARD:0021510,GARD:0016136,Rare immune disease +GARD:0000346,GARD:0022522,GARD:0018889,GARD:0015742,Rare hematologic disease +GARD:0000346,GARD:0022524,GARD:0022440,GARD:0015741,Rare neurologic disease +GARD:0000346,GARD:0022531,GARD:0021510,GARD:0016095,Rare genetic disease +GARD:0000346,GARD:0022523,GARD:0021510,GARD:0015742,Rare immune disease +GARD:0000346,GARD:0022522,GARD:0018889,GARD:0015741,Rare hematologic disease +GARD:0000346,GARD:0022531,GARD:0022440,GARD:0015741,Rare genetic disease +GARD:0000346,GARD:0022524,GARD:0020999,GARD:0015742,Rare neurologic disease +GARD:0000346,GARD:0022531,GARD:0018889,GARD:0015741,Rare genetic disease +GARD:0000346,GARD:0022536,GARD:0018889,GARD:0016095,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000346,GARD:0022536,GARD:0018889,GARD:0015742,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000346,GARD:0022523,GARD:0021510,GARD:0015741,Rare immune disease +GARD:0000346,GARD:0022531,GARD:0022440,GARD:0015917,Rare genetic disease +GARD:0000346,GARD:0022524,GARD:0022440,GARD:0016136,Rare neurologic disease +GARD:0000346,GARD:0022524,GARD:0020999,GARD:0016095,Rare neurologic disease +GARD:0000346,GARD:0022524,GARD:0020999,GARD:0015917,Rare neurologic disease +GARD:0000346,GARD:0022513,GARD:0020999,GARD:0015742,Rare developmental defect during embryogenesis +GARD:0000346,GARD:0022513,GARD:0020999,GARD:0016095,Rare developmental defect during embryogenesis +GARD:0000346,GARD:0022531,GARD:0018889,GARD:0015917,Rare genetic disease +GARD:0000346,GARD:0022531,GARD:0018889,GARD:0016136,Rare genetic disease +GARD:0000346,GARD:0022536,GARD:0018889,GARD:0015741,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000346,GARD:0022531,GARD:0021008,GARD:0015741,Rare genetic disease +GARD:0000346,GARD:0022531,GARD:0018889,GARD:0016095,Rare genetic disease +GARD:0000346,GARD:0022531,GARD:0021008,GARD:0015917,Rare genetic disease +GARD:0000346,GARD:0022523,GARD:0021510,GARD:0015917,Rare immune disease +GARD:0000346,GARD:0022524,GARD:0022440,GARD:0015917,Rare neurologic disease +GARD:0000346,GARD:0022524,GARD:0022440,GARD:0015742,Rare neurologic disease +GARD:0000346,GARD:0022522,GARD:0018889,GARD:0016136,Rare hematologic disease +GARD:0000346,GARD:0022524,GARD:0020999,GARD:0016136,Rare neurologic disease +GARD:0000346,GARD:0022513,GARD:0020999,GARD:0015917,Rare developmental defect during embryogenesis +GARD:0000347,GARD:0022521,GARD:0020217,,Rare endocrine disease +GARD:0000347,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0000347,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0000347,GARD:0022531,GARD:0020312,,Rare genetic disease +GARD:0000348,GARD:0022535,GARD:0019706,GARD:0020733,Rare neoplastic disease +GARD:0000348,GARD:0022536,GARD:0019706,GARD:0020733,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000350,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0000350,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000350,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000350,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000350,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0000350,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0000351,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0000351,GARD:0022513,GARD:0022083,,Rare developmental defect during embryogenesis +GARD:0000351,GARD:0022520,GARD:0022083,,Rare ophthalmic disorder +GARD:0000351,GARD:0022531,GARD:0022083,,Rare genetic disease +GARD:0000351,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0000351,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0000354,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0000354,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0000354,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000354,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000354,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000354,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0000358,GARD:0022531,GARD:0020083,,Rare genetic disease +GARD:0000358,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0000358,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0000358,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0000358,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0000358,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000358,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000358,GARD:0022524,GARD:0020083,,Rare neurologic disease +GARD:0000358,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0000358,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0000358,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000359,GARD:0022513,GARD:0019911,GARD:0016189,Rare developmental defect during embryogenesis +GARD:0000359,GARD:0022531,GARD:0019538,GARD:0015796,Rare genetic disease +GARD:0000359,GARD:0022511,GARD:0018726,GARD:0015757,Rare bone disease +GARD:0000359,GARD:0022513,GARD:0018726,GARD:0016189,Rare developmental defect during embryogenesis +GARD:0000359,GARD:0022531,GARD:0019228,GARD:0016189,Rare genetic disease +GARD:0000359,GARD:0022536,GARD:0022061,GARD:0015757,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000359,GARD:0022511,GARD:0018726,GARD:0016189,Rare bone disease +GARD:0000359,GARD:0022511,GARD:0019911,GARD:0015796,Rare bone disease +GARD:0000359,GARD:0022531,GARD:0006317,GARD:0016189,Rare genetic disease +GARD:0000359,GARD:0022511,GARD:0019911,GARD:0015680,Rare bone disease +GARD:0000359,GARD:0022513,GARD:0006317,GARD:0015680,Rare developmental defect during embryogenesis +GARD:0000359,GARD:0022531,GARD:0019538,GARD:0015680,Rare genetic disease +GARD:0000359,GARD:0022531,GARD:0019911,GARD:0015796,Rare genetic disease +GARD:0000359,GARD:0022511,GARD:0018726,GARD:0015680,Rare bone disease +GARD:0000359,GARD:0022517,GARD:0018726,GARD:0016189,Rare respiratory disease +GARD:0000359,GARD:0022510,GARD:0006317,GARD:0015796,Rare skin disease +GARD:0000359,GARD:0022520,GARD:0019538,GARD:0015796,Rare ophthalmic disorder +GARD:0000359,GARD:0022512,GARD:0019228,GARD:0015757,Rare renal disease +GARD:0000359,GARD:0022517,GARD:0018726,GARD:0015757,Rare respiratory disease +GARD:0000359,GARD:0022536,GARD:0022061,GARD:0015796,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000359,GARD:0022531,GARD:0019911,GARD:0015757,Rare genetic disease +GARD:0000359,GARD:0022510,GARD:0006317,GARD:0015757,Rare skin disease +GARD:0000359,GARD:0022531,GARD:0019911,GARD:0015680,Rare genetic disease +GARD:0000359,GARD:0022513,GARD:0006317,GARD:0015796,Rare developmental defect during embryogenesis +GARD:0000359,GARD:0022531,GARD:0018726,GARD:0015757,Rare genetic disease +GARD:0000359,GARD:0022531,GARD:0006317,GARD:0015680,Rare genetic disease +GARD:0000359,GARD:0022531,GARD:0018726,GARD:0016189,Rare genetic disease +GARD:0000359,GARD:0022513,GARD:0019911,GARD:0015680,Rare developmental defect during embryogenesis +GARD:0000359,GARD:0022512,GARD:0019228,GARD:0015680,Rare renal disease +GARD:0000359,GARD:0022531,GARD:0019228,GARD:0015757,Rare genetic disease +GARD:0000359,GARD:0022513,GARD:0018726,GARD:0015757,Rare developmental defect during embryogenesis +GARD:0000359,GARD:0022511,GARD:0019911,GARD:0015757,Rare bone disease +GARD:0000359,GARD:0022531,GARD:0019538,GARD:0016189,Rare genetic disease +GARD:0000359,GARD:0022531,GARD:0019228,GARD:0015796,Rare genetic disease +GARD:0000359,GARD:0022531,GARD:0018726,GARD:0015796,Rare genetic disease +GARD:0000359,GARD:0022512,GARD:0019228,GARD:0016189,Rare renal disease +GARD:0000359,GARD:0022510,GARD:0006317,GARD:0015680,Rare skin disease +GARD:0000359,GARD:0022520,GARD:0019538,GARD:0015757,Rare ophthalmic disorder +GARD:0000359,GARD:0022513,GARD:0018726,GARD:0015680,Rare developmental defect during embryogenesis +GARD:0000359,GARD:0022517,GARD:0018726,GARD:0015796,Rare respiratory disease +GARD:0000359,GARD:0022536,GARD:0022061,GARD:0015680,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000359,GARD:0022520,GARD:0019538,GARD:0015680,Rare ophthalmic disorder +GARD:0000359,GARD:0022536,GARD:0022061,GARD:0016189,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000359,GARD:0022513,GARD:0019911,GARD:0015796,Rare developmental defect during embryogenesis +GARD:0000359,GARD:0022513,GARD:0006317,GARD:0016189,Rare developmental defect during embryogenesis +GARD:0000359,GARD:0022513,GARD:0018726,GARD:0015796,Rare developmental defect during embryogenesis +GARD:0000359,GARD:0022513,GARD:0006317,GARD:0015757,Rare developmental defect during embryogenesis +GARD:0000359,GARD:0022517,GARD:0018726,GARD:0015680,Rare respiratory disease +GARD:0000359,GARD:0022510,GARD:0006317,GARD:0016189,Rare skin disease +GARD:0000359,GARD:0022531,GARD:0019986,GARD:0015796,Rare genetic disease +GARD:0000359,GARD:0022531,GARD:0019986,GARD:0016189,Rare genetic disease +GARD:0000359,GARD:0022531,GARD:0006317,GARD:0015796,Rare genetic disease +GARD:0000359,GARD:0022531,GARD:0019228,GARD:0015680,Rare genetic disease +GARD:0000359,GARD:0022511,GARD:0019911,GARD:0016189,Rare bone disease +GARD:0000359,GARD:0022513,GARD:0019911,GARD:0015757,Rare developmental defect during embryogenesis +GARD:0000359,GARD:0022520,GARD:0019538,GARD:0016189,Rare ophthalmic disorder +GARD:0000359,GARD:0022531,GARD:0019538,GARD:0015757,Rare genetic disease +GARD:0000359,GARD:0022531,GARD:0019986,GARD:0015757,Rare genetic disease +GARD:0000359,GARD:0022531,GARD:0019986,GARD:0015680,Rare genetic disease +GARD:0000359,GARD:0022512,GARD:0019228,GARD:0015796,Rare renal disease +GARD:0000359,GARD:0022531,GARD:0018726,GARD:0015680,Rare genetic disease +GARD:0000359,GARD:0022531,GARD:0019911,GARD:0016189,Rare genetic disease +GARD:0000359,GARD:0022511,GARD:0018726,GARD:0015796,Rare bone disease +GARD:0000359,GARD:0022531,GARD:0006317,GARD:0015757,Rare genetic disease +GARD:0000360,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000360,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0000360,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0000360,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0000360,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0000360,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000360,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0000360,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0000360,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0000361,GARD:0022513,GARD:0019390,,Rare developmental defect during embryogenesis +GARD:0000363,GARD:0022508,GARD:0012476,,Rare inborn errors of metabolism +GARD:0000363,GARD:0022536,GARD:0012476,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000363,GARD:0022531,GARD:0012476,,Rare genetic disease +GARD:0000364,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0000364,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0000365,GARD:0022531,GARD:0021686,,Rare genetic disease +GARD:0000365,GARD:0022514,GARD:0019294,,Rare gynecologic or obstetric disease +GARD:0000365,GARD:0022531,GARD:0021992,,Rare genetic disease +GARD:0000365,GARD:0022514,GARD:0021464,,Rare gynecologic or obstetric disease +GARD:0000365,GARD:0022514,GARD:0020049,,Rare gynecologic or obstetric disease +GARD:0000365,GARD:0022532,GARD:0021464,,Rare urogenital disease +GARD:0000365,GARD:0022521,GARD:0021464,,Rare endocrine disease +GARD:0000365,GARD:0022531,GARD:0021464,,Rare genetic disease +GARD:0000365,GARD:0022513,GARD:0021464,,Rare developmental defect during embryogenesis +GARD:0000365,GARD:0022521,GARD:0019294,,Rare endocrine disease +GARD:0000365,GARD:0022529,GARD:0021670,,Rare infertility +GARD:0000365,GARD:0022531,GARD:0021691,,Rare genetic disease +GARD:0000365,GARD:0022529,GARD:0021678,,Rare infertility +GARD:0000368,GARD:0022510,GARD:0002152,,Rare skin disease +GARD:0000368,GARD:0022531,GARD:0022168,,Rare genetic disease +GARD:0000368,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0000368,GARD:0022531,GARD:0020311,,Rare genetic disease +GARD:0000368,GARD:0022531,GARD:0019867,,Rare genetic disease +GARD:0000368,GARD:0022513,GARD:0019868,,Rare developmental defect during embryogenesis +GARD:0000368,GARD:0022520,GARD:0019513,,Rare ophthalmic disorder +GARD:0000368,GARD:0022531,GARD:0002152,,Rare genetic disease +GARD:0000368,GARD:0022513,GARD:0002152,,Rare developmental defect during embryogenesis +GARD:0000368,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0000368,GARD:0022518,GARD:0019868,,Rare surgical thoracic disease +GARD:0000369,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0000369,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0000369,GARD:0022520,GARD:0022106,,Rare ophthalmic disorder +GARD:0000369,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0000369,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0000369,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0000369,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0000369,GARD:0022531,GARD:0022106,,Rare genetic disease +GARD:0000370,GARD:0022531,GARD:0021153,,Rare genetic disease +GARD:0000370,GARD:0022531,GARD:0020004,,Rare genetic disease +GARD:0000370,GARD:0022527,GARD:0021153,,Rare circulatory system disease +GARD:0000370,GARD:0022513,GARD:0021153,,Rare developmental defect during embryogenesis +GARD:0000370,GARD:0022510,GARD:0021153,,Rare skin disease +GARD:0000370,GARD:0022506,GARD:0022506,,Rare hepatic disease +GARD:0000371,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0000371,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000371,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0000371,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0000371,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0000371,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000371,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000372,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0000372,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0000372,GARD:0022513,GARD:0019561,,Rare developmental defect during embryogenesis +GARD:0000372,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0000372,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0000372,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0000372,GARD:0022531,GARD:0019561,,Rare genetic disease +GARD:0000372,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0000372,GARD:0022519,GARD:0019561,,Rare surgical cardiac disease +GARD:0000372,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0000373,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0000374,GARD:0022510,GARD:0019001,,Rare skin disease +GARD:0000374,GARD:0022531,GARD:0019001,,Rare genetic disease +GARD:0000374,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000374,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000375,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000375,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0000375,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000375,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0000375,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0000375,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0000375,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000376,GARD:0022513,GARD:0022025,,Rare developmental defect during embryogenesis +GARD:0000376,GARD:0022531,GARD:0022025,,Rare genetic disease +GARD:0000376,GARD:0022511,GARD:0022025,,Rare bone disease +GARD:0000377,GARD:0022513,GARD:0022025,,Rare developmental defect during embryogenesis +GARD:0000377,GARD:0022531,GARD:0022025,,Rare genetic disease +GARD:0000377,GARD:0022511,GARD:0022025,,Rare bone disease +GARD:0000378,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000378,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000378,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000378,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000378,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000378,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000379,GARD:0022512,GARD:0019217,GARD:0019377,Rare renal disease +GARD:0000379,GARD:0022513,GARD:0019217,GARD:0019378,Rare developmental defect during embryogenesis +GARD:0000379,GARD:0022513,GARD:0019217,GARD:0019377,Rare developmental defect during embryogenesis +GARD:0000379,GARD:0022512,GARD:0019217,GARD:0019378,Rare renal disease +GARD:0000379,GARD:0022513,GARD:0019217,GARD:0016854,Rare developmental defect during embryogenesis +GARD:0000379,GARD:0022536,GARD:0019217,GARD:0019377,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000379,GARD:0022536,GARD:0019217,GARD:0019378,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000379,GARD:0022512,GARD:0019217,GARD:0016854,Rare renal disease +GARD:0000379,GARD:0022536,GARD:0019217,GARD:0016854,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000380,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0000380,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0000380,GARD:0022531,GARD:0022109,,Rare genetic disease +GARD:0000380,GARD:0022520,GARD:0022109,,Rare ophthalmic disorder +GARD:0000381,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000381,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000381,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0000381,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0000381,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000383,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0000383,GARD:0022520,GARD:0022113,,Rare ophthalmic disorder +GARD:0000383,GARD:0022531,GARD:0022113,,Rare genetic disease +GARD:0000383,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000383,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0000383,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0000384,GARD:0022520,GARD:0019512,,Rare ophthalmic disorder +GARD:0000384,GARD:0022531,GARD:0022030,,Rare genetic disease +GARD:0000384,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0000384,GARD:0022511,GARD:0022030,,Rare bone disease +GARD:0000384,GARD:0022513,GARD:0022030,,Rare developmental defect during embryogenesis +GARD:0000384,GARD:0022510,GARD:0019512,,Rare skin disease +GARD:0000384,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0000384,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0000384,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0000384,GARD:0022513,GARD:0019512,,Rare developmental defect during embryogenesis +GARD:0000384,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0000384,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0000384,GARD:0022531,GARD:0019512,,Rare genetic disease +GARD:0000385,GARD:0022531,GARD:0022441,GARD:0016115,Rare genetic disease +GARD:0000385,GARD:0022524,GARD:0019832,GARD:0015071,Rare neurologic disease +GARD:0000385,GARD:0022524,GARD:0019832,GARD:0016115,Rare neurologic disease +GARD:0000385,GARD:0022513,GARD:0019832,GARD:0016371,Rare developmental defect during embryogenesis +GARD:0000385,GARD:0022513,GARD:0019909,GARD:0015071,Rare developmental defect during embryogenesis +GARD:0000385,GARD:0022531,GARD:0020302,GARD:0015071,Rare genetic disease +GARD:0000385,GARD:0022531,GARD:0020302,GARD:0016115,Rare genetic disease +GARD:0000385,GARD:0022531,GARD:0022441,GARD:0016371,Rare genetic disease +GARD:0000385,GARD:0022531,GARD:0022441,GARD:0015071,Rare genetic disease +GARD:0000385,GARD:0022513,GARD:0019909,GARD:0016371,Rare developmental defect during embryogenesis +GARD:0000385,GARD:0022526,GARD:0019909,GARD:0015071,Rare odontologic disease +GARD:0000385,GARD:0022513,GARD:0019832,GARD:0015071,Rare developmental defect during embryogenesis +GARD:0000385,GARD:0022526,GARD:0019909,GARD:0016371,Rare odontologic disease +GARD:0000385,GARD:0022531,GARD:0020302,GARD:0016371,Rare genetic disease +GARD:0000385,GARD:0022513,GARD:0019909,GARD:0016115,Rare developmental defect during embryogenesis +GARD:0000385,GARD:0022526,GARD:0019909,GARD:0016115,Rare odontologic disease +GARD:0000385,GARD:0022513,GARD:0019832,GARD:0016115,Rare developmental defect during embryogenesis +GARD:0000385,GARD:0022524,GARD:0019832,GARD:0016371,Rare neurologic disease +GARD:0000386,GARD:0022513,GARD:0021186,GARD:0016286,Rare developmental defect during embryogenesis +GARD:0000386,GARD:0022520,GARD:0019527,GARD:0016286,Rare ophthalmic disorder +GARD:0000386,GARD:0022513,GARD:0019833,GARD:0015238,Rare developmental defect during embryogenesis +GARD:0000386,GARD:0022531,GARD:0021507,GARD:0015238,Rare genetic disease +GARD:0000386,GARD:0022531,GARD:0021507,GARD:0016286,Rare genetic disease +GARD:0000386,GARD:0022531,GARD:0022170,GARD:0016286,Rare genetic disease +GARD:0000386,GARD:0022513,GARD:0021186,GARD:0015238,Rare developmental defect during embryogenesis +GARD:0000386,GARD:0022520,GARD:0019527,GARD:0015238,Rare ophthalmic disorder +GARD:0000386,GARD:0022531,GARD:0021727,GARD:0016286,Rare genetic disease +GARD:0000386,GARD:0022531,GARD:0022170,GARD:0015238,Rare genetic disease +GARD:0000386,GARD:0022511,GARD:0021186,GARD:0015238,Rare bone disease +GARD:0000386,GARD:0022531,GARD:0021727,GARD:0015238,Rare genetic disease +GARD:0000386,GARD:0022511,GARD:0021186,GARD:0016286,Rare bone disease +GARD:0000386,GARD:0022513,GARD:0019833,GARD:0016286,Rare developmental defect during embryogenesis +GARD:0000387,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0000387,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0000387,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000390,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0000390,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0000390,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0000391,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000391,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0000391,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0000391,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0000393,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0000394,GARD:0022531,GARD:0019212,,Rare genetic disease +GARD:0000394,GARD:0022511,GARD:0019212,,Rare bone disease +GARD:0000394,GARD:0022513,GARD:0019212,,Rare developmental defect during embryogenesis +GARD:0000395,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0000395,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0000396,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0000399,GARD:0022529,GARD:0019445,GARD:0015249,Rare infertility +GARD:0000399,GARD:0022536,GARD:0022061,GARD:0015267,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000399,GARD:0022532,GARD:0021463,GARD:0015267,Rare urogenital disease +GARD:0000399,GARD:0022529,GARD:0019445,GARD:0015267,Rare infertility +GARD:0000399,GARD:0022531,GARD:0019445,GARD:0015267,Rare genetic disease +GARD:0000399,GARD:0022536,GARD:0022061,GARD:0015249,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000399,GARD:0022531,GARD:0021463,GARD:0015249,Rare genetic disease +GARD:0000399,GARD:0022532,GARD:0021463,GARD:0015249,Rare urogenital disease +GARD:0000399,GARD:0022521,GARD:0021463,GARD:0015249,Rare endocrine disease +GARD:0000399,GARD:0022521,GARD:0021463,GARD:0015267,Rare endocrine disease +GARD:0000399,GARD:0022531,GARD:0021463,GARD:0015267,Rare genetic disease +GARD:0000399,GARD:0022531,GARD:0019445,GARD:0015249,Rare genetic disease +GARD:0000399,GARD:0022513,GARD:0021463,GARD:0015267,Rare developmental defect during embryogenesis +GARD:0000399,GARD:0022513,GARD:0021463,GARD:0015249,Rare developmental defect during embryogenesis +GARD:0000400,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0000400,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0000400,GARD:0022531,GARD:0022178,,Rare genetic disease +GARD:0000400,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000400,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000400,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000400,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0000400,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0000400,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0000400,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000400,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000400,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000400,GARD:0022520,GARD:0019517,,Rare ophthalmic disorder +GARD:0000402,GARD:0022508,GARD:0005243,,Rare inborn errors of metabolism +GARD:0000402,GARD:0022531,GARD:0005243,,Rare genetic disease +GARD:0000402,GARD:0022524,GARD:0005243,,Rare neurologic disease +GARD:0000402,GARD:0022520,GARD:0005243,,Rare ophthalmic disorder +GARD:0000404,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0000404,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0000404,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0000405,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0000405,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0000405,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0000405,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0000405,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000405,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000405,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0000406,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000406,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000407,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0000407,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0000407,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0000408,GARD:0022521,GARD:0012556,,Rare endocrine disease +GARD:0000408,GARD:0022531,GARD:0012556,,Rare genetic disease +GARD:0000409,GARD:0022524,GARD:0020041,,Rare neurologic disease +GARD:0000409,GARD:0022513,GARD:0020041,,Rare developmental defect during embryogenesis +GARD:0000409,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000409,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000409,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000409,GARD:0022531,GARD:0020041,,Rare genetic disease +GARD:0000411,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000411,GARD:0022531,GARD:0020223,,Rare genetic disease +GARD:0000411,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000411,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000411,GARD:0022521,GARD:0020223,,Rare endocrine disease +GARD:0000412,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0000413,GARD:0022513,GARD:0006227,,Rare developmental defect during embryogenesis +GARD:0000413,GARD:0022531,GARD:0006227,,Rare genetic disease +GARD:0000413,GARD:0022510,GARD:0006227,,Rare skin disease +GARD:0000413,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0000413,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0000413,GARD:0022534,GARD:0006227,,Rare abdominal surgical disease +GARD:0000413,GARD:0022518,GARD:0006227,,Rare surgical thoracic disease +GARD:0000413,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0000414,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0000414,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0000414,GARD:0022521,GARD:0020137,,Rare endocrine disease +GARD:0000414,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0000414,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0000414,GARD:0022531,GARD:0020137,,Rare genetic disease +GARD:0000415,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000415,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000415,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0000415,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000415,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0000418,GARD:0022508,GARD:0021841,,Rare inborn errors of metabolism +GARD:0000418,GARD:0022531,GARD:0021841,,Rare genetic disease +GARD:0000420,GARD:0022523,GARD:0017217,,Rare immune disease +GARD:0000420,GARD:0022536,GARD:0017217,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000420,GARD:0022531,GARD:0017217,,Rare genetic disease +GARD:0000420,GARD:0022524,GARD:0017217,,Rare neurologic disease +GARD:0000420,GARD:0022535,GARD:0017217,,Rare neoplastic disease +GARD:0000424,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0000424,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0000425,GARD:0022513,GARD:0020458,,Rare developmental defect during embryogenesis +GARD:0000425,GARD:0022531,GARD:0021923,,Rare genetic disease +GARD:0000425,GARD:0022527,GARD:0020458,,Rare circulatory system disease +GARD:0000425,GARD:0022535,GARD:0020458,,Rare neoplastic disease +GARD:0000427,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0000427,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0000427,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0000428,GARD:0022513,GARD:0002392,,Rare developmental defect during embryogenesis +GARD:0000428,GARD:0022514,GARD:0020196,,Rare gynecologic or obstetric disease +GARD:0000428,GARD:0022511,GARD:0002392,,Rare bone disease +GARD:0000428,GARD:0022531,GARD:0002392,,Rare genetic disease +GARD:0000429,GARD:0022513,GARD:0022025,,Rare developmental defect during embryogenesis +GARD:0000429,GARD:0022531,GARD:0022025,,Rare genetic disease +GARD:0000429,GARD:0022511,GARD:0022025,,Rare bone disease +GARD:0000431,GARD:0022528,GARD:0019999,,Rare otorhinolaryngologic disease +GARD:0000431,GARD:0022531,GARD:0019999,,Rare genetic disease +GARD:0000431,GARD:0022513,GARD:0019999,,Rare developmental defect during embryogenesis +GARD:0000433,GARD:0022531,GARD:0020010,,Rare genetic disease +GARD:0000433,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000433,GARD:0022521,GARD:0019798,,Rare endocrine disease +GARD:0000433,GARD:0022531,GARD:0020316,,Rare genetic disease +GARD:0000433,GARD:0022512,GARD:0020010,,Rare renal disease +GARD:0000433,GARD:0022527,GARD:0020010,,Rare circulatory system disease +GARD:0000434,GARD:0022531,GARD:0012524,,Rare genetic disease +GARD:0000434,GARD:0022513,GARD:0012524,,Rare developmental defect during embryogenesis +GARD:0000434,GARD:0022524,GARD:0012524,,Rare neurologic disease +GARD:0000435,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0000435,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000435,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0000435,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0000435,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0000435,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0000435,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000435,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0000436,GARD:0022536,GARD:0022291,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000436,GARD:0022512,GARD:0022291,,Rare renal disease +GARD:0000436,GARD:0022525,GARD:0020257,,Rare systemic or rheumatologic disease +GARD:0000438,GARD:0022515,GARD:0020526,,Rare cardiac disease +GARD:0000438,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0000438,GARD:0022531,GARD:0020526,,Rare genetic disease +GARD:0000438,GARD:0022531,GARD:0020390,,Rare genetic disease +GARD:0000438,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0000438,GARD:0022536,GARD:0020526,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000448,GARD:0022531,GARD:0020529,,Rare genetic disease +GARD:0000448,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0000448,GARD:0022531,GARD:0021510,,Rare genetic disease +GARD:0000448,GARD:0022523,GARD:0021510,,Rare immune disease +GARD:0000448,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000448,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0000448,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0000448,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000448,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000448,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0000448,GARD:0022510,GARD:0019005,,Rare skin disease +GARD:0000448,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000448,GARD:0022531,GARD:0020271,,Rare genetic disease +GARD:0000448,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000448,GARD:0022536,GARD:0020529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000448,GARD:0022531,GARD:0021010,,Rare genetic disease +GARD:0000448,GARD:0022515,GARD:0020529,,Rare cardiac disease +GARD:0000448,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000448,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000448,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0000453,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0000453,GARD:0022531,GARD:0020214,,Rare genetic disease +GARD:0000453,GARD:0022521,GARD:0020214,,Rare endocrine disease +GARD:0000453,GARD:0022531,GARD:0018991,,Rare genetic disease +GARD:0000454,GARD:0022513,GARD:0019861,,Rare developmental defect during embryogenesis +GARD:0000454,GARD:0022536,GARD:0019861,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000454,GARD:0022531,GARD:0019861,,Rare genetic disease +GARD:0000454,GARD:0022534,GARD:0019861,,Rare abdominal surgical disease +GARD:0000455,GARD:0022516,GARD:0005708,,Rare gastroenterologic disease +GARD:0000456,GARD:0022534,GARD:0019856,,Rare abdominal surgical disease +GARD:0000456,GARD:0022513,GARD:0019856,,Rare developmental defect during embryogenesis +GARD:0000456,GARD:0022531,GARD:0021616,,Rare genetic disease +GARD:0000457,GARD:0022534,GARD:0019856,GARD:0012404,Rare abdominal surgical disease +GARD:0000457,GARD:0022531,GARD:0021616,GARD:0012404,Rare genetic disease +GARD:0000457,GARD:0022531,GARD:0012733,GARD:0012404,Rare genetic disease +GARD:0000457,GARD:0022531,GARD:0019804,GARD:0012404,Rare genetic disease +GARD:0000457,GARD:0022520,GARD:0019510,GARD:0012404,Rare ophthalmic disorder +GARD:0000457,GARD:0022513,GARD:0019856,GARD:0012404,Rare developmental defect during embryogenesis +GARD:0000457,GARD:0022531,GARD:0019510,GARD:0012404,Rare genetic disease +GARD:0000457,GARD:0022524,GARD:0022440,GARD:0012404,Rare neurologic disease +GARD:0000457,GARD:0022531,GARD:0022440,GARD:0012404,Rare genetic disease +GARD:0000457,GARD:0022521,GARD:0019804,GARD:0012404,Rare endocrine disease +GARD:0000457,GARD:0022524,GARD:0012733,GARD:0012404,Rare neurologic disease +GARD:0000458,GARD:0022531,GARD:0018685,,Rare genetic disease +GARD:0000458,GARD:0022511,GARD:0018685,,Rare bone disease +GARD:0000458,GARD:0022513,GARD:0018685,,Rare developmental defect during embryogenesis +GARD:0000459,GARD:0022513,GARD:0002882,,Rare developmental defect during embryogenesis +GARD:0000459,GARD:0022511,GARD:0002882,,Rare bone disease +GARD:0000459,GARD:0022531,GARD:0002882,,Rare genetic disease +GARD:0000460,GARD:0022511,GARD:0002882,,Rare bone disease +GARD:0000460,GARD:0022531,GARD:0002882,,Rare genetic disease +GARD:0000460,GARD:0022531,GARD:0019188,,Rare genetic disease +GARD:0000460,GARD:0022513,GARD:0002882,,Rare developmental defect during embryogenesis +GARD:0000465,GARD:0022531,GARD:0018947,,Rare genetic disease +GARD:0000465,GARD:0022508,GARD:0018947,,Rare inborn errors of metabolism +GARD:0000465,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0000465,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0000467,GARD:0022531,GARD:0018947,,Rare genetic disease +GARD:0000467,GARD:0022508,GARD:0018947,,Rare inborn errors of metabolism +GARD:0000469,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000469,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0000469,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000469,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000469,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000469,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0000469,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000469,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0000475,GARD:0022522,GARD:0020093,,Rare hematologic disease +GARD:0000476,GARD:0022510,GARD:0018985,,Rare skin disease +GARD:0000480,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000480,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000484,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0000484,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0000484,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0000491,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0000491,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0000491,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0000494,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000494,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000494,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0000494,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0000494,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000494,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0000494,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0000494,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0000496,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000496,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0000496,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0000496,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0000496,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000496,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000496,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0000496,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0000497,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000497,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000497,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000497,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0000497,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0000497,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0000497,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000497,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0000497,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0000497,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000498,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000498,GARD:0022507,GARD:0019897,,Rare maxillo-facial surgical disease +GARD:0000498,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0000498,GARD:0022520,GARD:0019500,,Rare ophthalmic disorder +GARD:0000498,GARD:0022531,GARD:0019506,,Rare genetic disease +GARD:0000498,GARD:0022513,GARD:0019897,,Rare developmental defect during embryogenesis +GARD:0000498,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0000498,GARD:0022513,GARD:0019506,,Rare developmental defect during embryogenesis +GARD:0000498,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0000498,GARD:0022531,GARD:0019897,,Rare genetic disease +GARD:0000498,GARD:0022528,GARD:0019897,,Rare otorhinolaryngologic disease +GARD:0000498,GARD:0022513,GARD:0019500,,Rare developmental defect during embryogenesis +GARD:0000498,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000498,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0000498,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0000498,GARD:0022520,GARD:0019506,,Rare ophthalmic disorder +GARD:0000498,GARD:0022531,GARD:0019500,,Rare genetic disease +GARD:0000499,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0000499,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0000499,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0000499,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0000499,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0000504,GARD:0022511,GARD:0018685,,Rare bone disease +GARD:0000504,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0000504,GARD:0022513,GARD:0018685,,Rare developmental defect during embryogenesis +GARD:0000504,GARD:0022531,GARD:0018685,,Rare genetic disease +GARD:0000506,GARD:0022513,GARD:0000006,,Rare developmental defect during embryogenesis +GARD:0000506,GARD:0022511,GARD:0000006,,Rare bone disease +GARD:0000506,GARD:0022531,GARD:0000006,,Rare genetic disease +GARD:0000507,GARD:0022511,GARD:0000006,,Rare bone disease +GARD:0000507,GARD:0022531,GARD:0000006,,Rare genetic disease +GARD:0000507,GARD:0022513,GARD:0000006,,Rare developmental defect during embryogenesis +GARD:0000508,GARD:0022531,GARD:0019218,GARD:0015031,Rare genetic disease +GARD:0000508,GARD:0022513,GARD:0019218,GARD:0015031,Rare developmental defect during embryogenesis +GARD:0000508,GARD:0022536,GARD:0019218,GARD:0015031,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000508,GARD:0022513,GARD:0019204,GARD:0015031,Rare developmental defect during embryogenesis +GARD:0000508,GARD:0022531,GARD:0019204,GARD:0015031,Rare genetic disease +GARD:0000508,GARD:0022511,GARD:0019204,GARD:0015031,Rare bone disease +GARD:0000508,GARD:0022512,GARD:0019218,GARD:0015031,Rare renal disease +GARD:0000508,GARD:0021079,GARD:0021997,GARD:0015031,Rare systemic or rheumatological disease of childhood +GARD:0000508,GARD:0022525,GARD:0020257,GARD:0015031,Rare systemic or rheumatologic disease +GARD:0000512,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0000512,GARD:0022517,GARD:0020248,,Rare respiratory disease +GARD:0000512,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0000512,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0000514,GARD:0022512,GARD:0019218,GARD:0015130,Rare renal disease +GARD:0000514,GARD:0022531,GARD:0019218,GARD:0015130,Rare genetic disease +GARD:0000514,GARD:0022513,GARD:0019833,GARD:0015130,Rare developmental defect during embryogenesis +GARD:0000514,GARD:0022513,GARD:0019218,GARD:0015130,Rare developmental defect during embryogenesis +GARD:0000514,GARD:0022536,GARD:0019218,GARD:0015130,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000514,GARD:0022531,GARD:0021507,GARD:0015130,Rare genetic disease +GARD:0000519,GARD:0022536,GARD:0020246,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000519,GARD:0022517,GARD:0020246,,Rare respiratory disease +GARD:0000521,GARD:0021079,GARD:0021427,,Rare systemic or rheumatological disease of childhood +GARD:0000521,GARD:0022525,GARD:0021454,,Rare systemic or rheumatologic disease +GARD:0000521,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0000521,GARD:0022531,GARD:0021018,,Rare genetic disease +GARD:0000521,GARD:0022531,GARD:0022488,,Rare genetic disease +GARD:0000522,GARD:0022522,GARD:0011953,GARD:0019694,Rare hematologic disease +GARD:0000522,GARD:0022536,GARD:0011953,GARD:0016920,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000522,GARD:0022535,GARD:0011953,GARD:0016920,Rare neoplastic disease +GARD:0000522,GARD:0022522,GARD:0011953,GARD:0016920,Rare hematologic disease +GARD:0000522,GARD:0022535,GARD:0011953,GARD:0019694,Rare neoplastic disease +GARD:0000522,GARD:0022536,GARD:0011953,GARD:0019694,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000524,GARD:0022522,GARD:0012760,GARD:0019697,Rare hematologic disease +GARD:0000524,GARD:0022522,GARD:0012760,GARD:0021490,Rare hematologic disease +GARD:0000524,GARD:0022535,GARD:0012760,GARD:0019697,Rare neoplastic disease +GARD:0000524,GARD:0022536,GARD:0012760,GARD:0021490,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000524,GARD:0022536,GARD:0012760,GARD:0019697,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000524,GARD:0022535,GARD:0012760,GARD:0021490,Rare neoplastic disease +GARD:0000525,GARD:0022535,GARD:0012760,,Rare neoplastic disease +GARD:0000525,GARD:0022536,GARD:0012760,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000525,GARD:0022522,GARD:0012760,,Rare hematologic disease +GARD:0000526,GARD:0022536,GARD:0012760,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000526,GARD:0022522,GARD:0012760,,Rare hematologic disease +GARD:0000526,GARD:0022535,GARD:0012760,,Rare neoplastic disease +GARD:0000527,GARD:0022536,GARD:0012760,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000527,GARD:0022535,GARD:0012760,,Rare neoplastic disease +GARD:0000527,GARD:0022522,GARD:0012760,,Rare hematologic disease +GARD:0000529,GARD:0022535,GARD:0012760,,Rare neoplastic disease +GARD:0000529,GARD:0022536,GARD:0012760,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000529,GARD:0022522,GARD:0012760,,Rare hematologic disease +GARD:0000536,GARD:0022522,GARD:0012758,,Rare hematologic disease +GARD:0000536,GARD:0022536,GARD:0012758,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000536,GARD:0022535,GARD:0012758,,Rare neoplastic disease +GARD:0000538,GARD:0022522,GARD:0012758,,Rare hematologic disease +GARD:0000538,GARD:0022535,GARD:0012758,,Rare neoplastic disease +GARD:0000538,GARD:0022536,GARD:0012758,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000540,GARD:0022508,GARD:0021318,,Rare inborn errors of metabolism +GARD:0000540,GARD:0022531,GARD:0021318,,Rare genetic disease +GARD:0000546,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000546,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0000546,GARD:0022531,GARD:0018965,,Rare genetic disease +GARD:0000546,GARD:0022508,GARD:0018965,,Rare inborn errors of metabolism +GARD:0000546,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0000547,GARD:0022524,GARD:0020371,GARD:0015248,Rare neurologic disease +GARD:0000547,GARD:0022524,GARD:0018890,GARD:0015248,Rare neurologic disease +GARD:0000547,GARD:0022531,GARD:0020371,GARD:0015248,Rare genetic disease +GARD:0000547,GARD:0022531,GARD:0018890,GARD:0015248,Rare genetic disease +GARD:0000547,GARD:0022508,GARD:0018965,GARD:0015248,Rare inborn errors of metabolism +GARD:0000547,GARD:0022531,GARD:0018965,GARD:0015248,Rare genetic disease +GARD:0000550,GARD:0022524,GARD:0020559,,Rare neurologic disease +GARD:0000550,GARD:0022508,GARD:0018965,,Rare inborn errors of metabolism +GARD:0000550,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0000550,GARD:0022531,GARD:0020559,,Rare genetic disease +GARD:0000550,GARD:0022531,GARD:0010248,,Rare genetic disease +GARD:0000550,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0000550,GARD:0022531,GARD:0018965,,Rare genetic disease +GARD:0000550,GARD:0022524,GARD:0010248,,Rare neurologic disease +GARD:0000555,GARD:0022531,GARD:0020220,GARD:0015131,Rare genetic disease +GARD:0000555,GARD:0022531,GARD:0022385,GARD:0015131,Rare genetic disease +GARD:0000555,GARD:0022521,GARD:0022385,GARD:0015131,Rare endocrine disease +GARD:0000555,GARD:0022529,GARD:0020220,GARD:0015131,Rare infertility +GARD:0000555,GARD:0022521,GARD:0020220,GARD:0015131,Rare endocrine disease +GARD:0000555,GARD:0022514,GARD:0020220,GARD:0015131,Rare gynecologic or obstetric disease +GARD:0000558,GARD:0022521,GARD:0021856,GARD:0015132,Rare endocrine disease +GARD:0000558,GARD:0022529,GARD:0021856,GARD:0015132,Rare infertility +GARD:0000558,GARD:0022535,GARD:0019765,GARD:0015132,Rare neoplastic disease +GARD:0000558,GARD:0022521,GARD:0019765,GARD:0015132,Rare endocrine disease +GARD:0000559,GARD:0022531,GARD:0022157,GARD:0015867,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0011890,GARD:0015860,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0019529,GARD:0015865,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0011890,GARD:0015875,Rare genetic disease +GARD:0000559,GARD:0022520,GARD:0011890,GARD:0015875,Rare ophthalmic disorder +GARD:0000559,GARD:0022520,GARD:0019529,GARD:0015870,Rare ophthalmic disorder +GARD:0000559,GARD:0022520,GARD:0019542,GARD:0015134,Rare ophthalmic disorder +GARD:0000559,GARD:0022531,GARD:0022157,GARD:0015870,Rare genetic disease +GARD:0000559,GARD:0022524,GARD:0011890,GARD:0015881,Rare neurologic disease +GARD:0000559,GARD:0022520,GARD:0019542,GARD:0015860,Rare ophthalmic disorder +GARD:0000559,GARD:0022524,GARD:0011890,GARD:0015862,Rare neurologic disease +GARD:0000559,GARD:0022531,GARD:0022157,GARD:0015134,Rare genetic disease +GARD:0000559,GARD:0022521,GARD:0019804,GARD:0015862,Rare endocrine disease +GARD:0000559,GARD:0022521,GARD:0019804,GARD:0015870,Rare endocrine disease +GARD:0000559,GARD:0022531,GARD:0019804,GARD:0015870,Rare genetic disease +GARD:0000559,GARD:0022508,GARD:0011890,GARD:0015226,Rare inborn errors of metabolism +GARD:0000559,GARD:0022520,GARD:0019542,GARD:0015862,Rare ophthalmic disorder +GARD:0000559,GARD:0022531,GARD:0020551,GARD:0015867,Rare genetic disease +GARD:0000559,GARD:0022520,GARD:0019529,GARD:0015867,Rare ophthalmic disorder +GARD:0000559,GARD:0022506,GARD:0011890,GARD:0015875,Rare hepatic disease +GARD:0000559,GARD:0022524,GARD:0020551,GARD:0015881,Rare neurologic disease +GARD:0000559,GARD:0022531,GARD:0019529,GARD:0015867,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0020551,GARD:0015870,Rare genetic disease +GARD:0000559,GARD:0022506,GARD:0011890,GARD:0015226,Rare hepatic disease +GARD:0000559,GARD:0022508,GARD:0011890,GARD:0015881,Rare inborn errors of metabolism +GARD:0000559,GARD:0022520,GARD:0019529,GARD:0015226,Rare ophthalmic disorder +GARD:0000559,GARD:0022521,GARD:0019804,GARD:0015867,Rare endocrine disease +GARD:0000559,GARD:0022531,GARD:0011890,GARD:0015865,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0019529,GARD:0015875,Rare genetic disease +GARD:0000559,GARD:0022508,GARD:0011890,GARD:0015860,Rare inborn errors of metabolism +GARD:0000559,GARD:0022531,GARD:0019804,GARD:0015226,Rare genetic disease +GARD:0000559,GARD:0022520,GARD:0011890,GARD:0015881,Rare ophthalmic disorder +GARD:0000559,GARD:0022520,GARD:0011890,GARD:0015860,Rare ophthalmic disorder +GARD:0000559,GARD:0022524,GARD:0011890,GARD:0015867,Rare neurologic disease +GARD:0000559,GARD:0022524,GARD:0011890,GARD:0015860,Rare neurologic disease +GARD:0000559,GARD:0022524,GARD:0020551,GARD:0015875,Rare neurologic disease +GARD:0000559,GARD:0022520,GARD:0019542,GARD:0015226,Rare ophthalmic disorder +GARD:0000559,GARD:0022520,GARD:0019529,GARD:0015862,Rare ophthalmic disorder +GARD:0000559,GARD:0022531,GARD:0019804,GARD:0015134,Rare genetic disease +GARD:0000559,GARD:0022521,GARD:0019804,GARD:0015860,Rare endocrine disease +GARD:0000559,GARD:0022524,GARD:0011890,GARD:0015865,Rare neurologic disease +GARD:0000559,GARD:0022508,GARD:0011890,GARD:0015870,Rare inborn errors of metabolism +GARD:0000559,GARD:0022521,GARD:0019804,GARD:0015134,Rare endocrine disease +GARD:0000559,GARD:0022520,GARD:0019542,GARD:0015881,Rare ophthalmic disorder +GARD:0000559,GARD:0022524,GARD:0011890,GARD:0015134,Rare neurologic disease +GARD:0000559,GARD:0022524,GARD:0011890,GARD:0015226,Rare neurologic disease +GARD:0000559,GARD:0022524,GARD:0020551,GARD:0015867,Rare neurologic disease +GARD:0000559,GARD:0022520,GARD:0019542,GARD:0015870,Rare ophthalmic disorder +GARD:0000559,GARD:0022531,GARD:0019804,GARD:0015881,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0022157,GARD:0015226,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0022157,GARD:0015881,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0020551,GARD:0015862,Rare genetic disease +GARD:0000559,GARD:0022524,GARD:0020551,GARD:0015865,Rare neurologic disease +GARD:0000559,GARD:0022531,GARD:0011890,GARD:0015226,Rare genetic disease +GARD:0000559,GARD:0022524,GARD:0020551,GARD:0015862,Rare neurologic disease +GARD:0000559,GARD:0022531,GARD:0020551,GARD:0015881,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0022157,GARD:0015875,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0019804,GARD:0015875,Rare genetic disease +GARD:0000559,GARD:0022506,GARD:0011890,GARD:0015860,Rare hepatic disease +GARD:0000559,GARD:0022521,GARD:0019804,GARD:0015881,Rare endocrine disease +GARD:0000559,GARD:0022531,GARD:0019529,GARD:0015862,Rare genetic disease +GARD:0000559,GARD:0022520,GARD:0019529,GARD:0015860,Rare ophthalmic disorder +GARD:0000559,GARD:0022524,GARD:0011890,GARD:0015870,Rare neurologic disease +GARD:0000559,GARD:0022531,GARD:0011890,GARD:0015134,Rare genetic disease +GARD:0000559,GARD:0022520,GARD:0011890,GARD:0015226,Rare ophthalmic disorder +GARD:0000559,GARD:0022531,GARD:0022157,GARD:0015860,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0011890,GARD:0015881,Rare genetic disease +GARD:0000559,GARD:0022506,GARD:0011890,GARD:0015134,Rare hepatic disease +GARD:0000559,GARD:0022520,GARD:0019529,GARD:0015865,Rare ophthalmic disorder +GARD:0000559,GARD:0022520,GARD:0019529,GARD:0015134,Rare ophthalmic disorder +GARD:0000559,GARD:0022531,GARD:0019804,GARD:0015867,Rare genetic disease +GARD:0000559,GARD:0022508,GARD:0011890,GARD:0015875,Rare inborn errors of metabolism +GARD:0000559,GARD:0022506,GARD:0011890,GARD:0015865,Rare hepatic disease +GARD:0000559,GARD:0022531,GARD:0020551,GARD:0015134,Rare genetic disease +GARD:0000559,GARD:0022506,GARD:0011890,GARD:0015870,Rare hepatic disease +GARD:0000559,GARD:0022524,GARD:0011890,GARD:0015875,Rare neurologic disease +GARD:0000559,GARD:0022520,GARD:0019542,GARD:0015867,Rare ophthalmic disorder +GARD:0000559,GARD:0022520,GARD:0019529,GARD:0015881,Rare ophthalmic disorder +GARD:0000559,GARD:0022520,GARD:0019542,GARD:0015875,Rare ophthalmic disorder +GARD:0000559,GARD:0022524,GARD:0020551,GARD:0015870,Rare neurologic disease +GARD:0000559,GARD:0022524,GARD:0020551,GARD:0015134,Rare neurologic disease +GARD:0000559,GARD:0022531,GARD:0019529,GARD:0015870,Rare genetic disease +GARD:0000559,GARD:0022520,GARD:0011890,GARD:0015865,Rare ophthalmic disorder +GARD:0000559,GARD:0022531,GARD:0020551,GARD:0015865,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0011890,GARD:0015870,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0019529,GARD:0015860,Rare genetic disease +GARD:0000559,GARD:0022506,GARD:0011890,GARD:0015862,Rare hepatic disease +GARD:0000559,GARD:0022508,GARD:0011890,GARD:0015134,Rare inborn errors of metabolism +GARD:0000559,GARD:0022520,GARD:0019542,GARD:0015865,Rare ophthalmic disorder +GARD:0000559,GARD:0022531,GARD:0022157,GARD:0015865,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0020551,GARD:0015860,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0020551,GARD:0015226,Rare genetic disease +GARD:0000559,GARD:0022520,GARD:0019529,GARD:0015875,Rare ophthalmic disorder +GARD:0000559,GARD:0022531,GARD:0019804,GARD:0015865,Rare genetic disease +GARD:0000559,GARD:0022508,GARD:0011890,GARD:0015865,Rare inborn errors of metabolism +GARD:0000559,GARD:0022508,GARD:0011890,GARD:0015867,Rare inborn errors of metabolism +GARD:0000559,GARD:0022508,GARD:0011890,GARD:0015862,Rare inborn errors of metabolism +GARD:0000559,GARD:0022531,GARD:0019529,GARD:0015134,Rare genetic disease +GARD:0000559,GARD:0022520,GARD:0011890,GARD:0015862,Rare ophthalmic disorder +GARD:0000559,GARD:0022531,GARD:0019804,GARD:0015860,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0019529,GARD:0015226,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0011890,GARD:0015862,Rare genetic disease +GARD:0000559,GARD:0022521,GARD:0019804,GARD:0015865,Rare endocrine disease +GARD:0000559,GARD:0022521,GARD:0019804,GARD:0015226,Rare endocrine disease +GARD:0000559,GARD:0022531,GARD:0020551,GARD:0015875,Rare genetic disease +GARD:0000559,GARD:0022531,GARD:0019529,GARD:0015881,Rare genetic disease +GARD:0000559,GARD:0022520,GARD:0011890,GARD:0015867,Rare ophthalmic disorder +GARD:0000559,GARD:0022506,GARD:0011890,GARD:0015881,Rare hepatic disease +GARD:0000559,GARD:0022521,GARD:0019804,GARD:0015875,Rare endocrine disease +GARD:0000559,GARD:0022524,GARD:0020551,GARD:0015860,Rare neurologic disease +GARD:0000559,GARD:0022531,GARD:0011890,GARD:0015867,Rare genetic disease +GARD:0000559,GARD:0022520,GARD:0011890,GARD:0015870,Rare ophthalmic disorder +GARD:0000559,GARD:0022520,GARD:0011890,GARD:0015134,Rare ophthalmic disorder +GARD:0000559,GARD:0022524,GARD:0020551,GARD:0015226,Rare neurologic disease +GARD:0000559,GARD:0022531,GARD:0022157,GARD:0015862,Rare genetic disease +GARD:0000559,GARD:0022506,GARD:0011890,GARD:0015867,Rare hepatic disease +GARD:0000559,GARD:0022531,GARD:0019804,GARD:0015862,Rare genetic disease +GARD:0000562,GARD:0022521,GARD:0019804,,Rare endocrine disease +GARD:0000562,GARD:0022531,GARD:0019804,,Rare genetic disease +GARD:0000564,GARD:0022524,GARD:0004531,,Rare neurologic disease +GARD:0000564,GARD:0022531,GARD:0004531,,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0006895,GARD:0010151,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0006895,GARD:0015479,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0021957,GARD:0015472,Rare genetic disease +GARD:0000575,GARD:0021079,GARD:0021986,GARD:0010151,Rare systemic or rheumatological disease of childhood +GARD:0000575,GARD:0022523,GARD:0020117,GARD:0010151,Rare immune disease +GARD:0000575,GARD:0021079,GARD:0021986,GARD:0016021,Rare systemic or rheumatological disease of childhood +GARD:0000575,GARD:0022531,GARD:0021957,GARD:0009598,Rare genetic disease +GARD:0000575,GARD:0022525,GARD:0021957,GARD:0015472,Rare systemic or rheumatologic disease +GARD:0000575,GARD:0022531,GARD:0020117,GARD:0015480,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0020117,GARD:0015167,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0021957,GARD:0015479,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0022440,GARD:0015479,Rare genetic disease +GARD:0000575,GARD:0022524,GARD:0006895,GARD:0015167,Rare neurologic disease +GARD:0000575,GARD:0022524,GARD:0021965,GARD:0015480,Rare neurologic disease +GARD:0000575,GARD:0022531,GARD:0021965,GARD:0015480,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0022440,GARD:0015472,Rare genetic disease +GARD:0000575,GARD:0022524,GARD:0022440,GARD:0015480,Rare neurologic disease +GARD:0000575,GARD:0022531,GARD:0006895,GARD:0015167,Rare genetic disease +GARD:0000575,GARD:0022524,GARD:0021965,GARD:0016021,Rare neurologic disease +GARD:0000575,GARD:0022524,GARD:0021965,GARD:0009598,Rare neurologic disease +GARD:0000575,GARD:0022524,GARD:0006895,GARD:0010151,Rare neurologic disease +GARD:0000575,GARD:0022531,GARD:0006895,GARD:0015480,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0020117,GARD:0015479,Rare genetic disease +GARD:0000575,GARD:0022524,GARD:0022440,GARD:0015167,Rare neurologic disease +GARD:0000575,GARD:0022531,GARD:0006895,GARD:0015472,Rare genetic disease +GARD:0000575,GARD:0022524,GARD:0006895,GARD:0015472,Rare neurologic disease +GARD:0000575,GARD:0022525,GARD:0021957,GARD:0010151,Rare systemic or rheumatologic disease +GARD:0000575,GARD:0022531,GARD:0020117,GARD:0015472,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0006895,GARD:0009598,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0021965,GARD:0016021,Rare genetic disease +GARD:0000575,GARD:0021079,GARD:0021986,GARD:0015480,Rare systemic or rheumatological disease of childhood +GARD:0000575,GARD:0022525,GARD:0021957,GARD:0015167,Rare systemic or rheumatologic disease +GARD:0000575,GARD:0022531,GARD:0022440,GARD:0015167,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0021965,GARD:0015479,Rare genetic disease +GARD:0000575,GARD:0021079,GARD:0021986,GARD:0015894,Rare systemic or rheumatological disease of childhood +GARD:0000575,GARD:0022523,GARD:0020117,GARD:0016021,Rare immune disease +GARD:0000575,GARD:0022523,GARD:0020117,GARD:0015472,Rare immune disease +GARD:0000575,GARD:0021079,GARD:0021986,GARD:0009598,Rare systemic or rheumatological disease of childhood +GARD:0000575,GARD:0022524,GARD:0006895,GARD:0015479,Rare neurologic disease +GARD:0000575,GARD:0022523,GARD:0020117,GARD:0015480,Rare immune disease +GARD:0000575,GARD:0022524,GARD:0021965,GARD:0015894,Rare neurologic disease +GARD:0000575,GARD:0022525,GARD:0021957,GARD:0015480,Rare systemic or rheumatologic disease +GARD:0000575,GARD:0022531,GARD:0022440,GARD:0016021,Rare genetic disease +GARD:0000575,GARD:0022524,GARD:0021965,GARD:0015472,Rare neurologic disease +GARD:0000575,GARD:0022531,GARD:0021965,GARD:0009598,Rare genetic disease +GARD:0000575,GARD:0021079,GARD:0021986,GARD:0015479,Rare systemic or rheumatological disease of childhood +GARD:0000575,GARD:0021079,GARD:0021986,GARD:0015167,Rare systemic or rheumatological disease of childhood +GARD:0000575,GARD:0022524,GARD:0021965,GARD:0015167,Rare neurologic disease +GARD:0000575,GARD:0022525,GARD:0021957,GARD:0009598,Rare systemic or rheumatologic disease +GARD:0000575,GARD:0022531,GARD:0006895,GARD:0015894,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0021965,GARD:0015472,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0006895,GARD:0016021,Rare genetic disease +GARD:0000575,GARD:0022524,GARD:0021965,GARD:0015479,Rare neurologic disease +GARD:0000575,GARD:0021079,GARD:0021986,GARD:0015472,Rare systemic or rheumatological disease of childhood +GARD:0000575,GARD:0022525,GARD:0021957,GARD:0016021,Rare systemic or rheumatologic disease +GARD:0000575,GARD:0022524,GARD:0022440,GARD:0015479,Rare neurologic disease +GARD:0000575,GARD:0022523,GARD:0020117,GARD:0009598,Rare immune disease +GARD:0000575,GARD:0022531,GARD:0022440,GARD:0015480,Rare genetic disease +GARD:0000575,GARD:0022523,GARD:0020117,GARD:0015894,Rare immune disease +GARD:0000575,GARD:0022524,GARD:0022440,GARD:0009598,Rare neurologic disease +GARD:0000575,GARD:0022524,GARD:0022440,GARD:0015894,Rare neurologic disease +GARD:0000575,GARD:0022524,GARD:0022440,GARD:0015472,Rare neurologic disease +GARD:0000575,GARD:0022524,GARD:0022440,GARD:0016021,Rare neurologic disease +GARD:0000575,GARD:0022524,GARD:0006895,GARD:0015894,Rare neurologic disease +GARD:0000575,GARD:0022523,GARD:0020117,GARD:0015479,Rare immune disease +GARD:0000575,GARD:0022524,GARD:0006895,GARD:0009598,Rare neurologic disease +GARD:0000575,GARD:0022531,GARD:0021957,GARD:0015167,Rare genetic disease +GARD:0000575,GARD:0022525,GARD:0021957,GARD:0015479,Rare systemic or rheumatologic disease +GARD:0000575,GARD:0022531,GARD:0020117,GARD:0015894,Rare genetic disease +GARD:0000575,GARD:0022524,GARD:0006895,GARD:0016021,Rare neurologic disease +GARD:0000575,GARD:0022531,GARD:0021957,GARD:0016021,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0021957,GARD:0010151,Rare genetic disease +GARD:0000575,GARD:0022524,GARD:0006895,GARD:0015480,Rare neurologic disease +GARD:0000575,GARD:0022531,GARD:0020117,GARD:0009598,Rare genetic disease +GARD:0000575,GARD:0022524,GARD:0021965,GARD:0010151,Rare neurologic disease +GARD:0000575,GARD:0022531,GARD:0020117,GARD:0010151,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0021957,GARD:0015894,Rare genetic disease +GARD:0000575,GARD:0022524,GARD:0022440,GARD:0010151,Rare neurologic disease +GARD:0000575,GARD:0022531,GARD:0022440,GARD:0009598,Rare genetic disease +GARD:0000575,GARD:0022523,GARD:0020117,GARD:0015167,Rare immune disease +GARD:0000575,GARD:0022531,GARD:0022440,GARD:0010151,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0021965,GARD:0010151,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0022440,GARD:0015894,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0020117,GARD:0016021,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0021965,GARD:0015894,Rare genetic disease +GARD:0000575,GARD:0022531,GARD:0021965,GARD:0015167,Rare genetic disease +GARD:0000575,GARD:0022525,GARD:0021957,GARD:0015894,Rare systemic or rheumatologic disease +GARD:0000575,GARD:0022531,GARD:0021957,GARD:0015480,Rare genetic disease +GARD:0000583,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000583,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000583,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000584,GARD:0022510,GARD:0019001,,Rare skin disease +GARD:0000584,GARD:0022531,GARD:0019001,,Rare genetic disease +GARD:0000584,GARD:0022516,GARD:0019846,,Rare gastroenterologic disease +GARD:0000584,GARD:0022513,GARD:0022248,,Rare developmental defect during embryogenesis +GARD:0000584,GARD:0022536,GARD:0022248,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000584,GARD:0022534,GARD:0022248,,Rare abdominal surgical disease +GARD:0000584,GARD:0022536,GARD:0019846,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000584,GARD:0022531,GARD:0019846,,Rare genetic disease +GARD:0000584,GARD:0022531,GARD:0022248,,Rare genetic disease +GARD:0000587,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0000587,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000587,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0000587,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0000587,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000587,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000588,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000588,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000589,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0000589,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0000589,GARD:0022531,GARD:0020271,,Rare genetic disease +GARD:0000589,GARD:0022510,GARD:0019005,,Rare skin disease +GARD:0000589,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0000592,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0000592,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0000592,GARD:0022520,GARD:0021124,,Rare ophthalmic disorder +GARD:0000592,GARD:0022508,GARD:0021124,,Rare inborn errors of metabolism +GARD:0000592,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0000592,GARD:0022531,GARD:0021124,,Rare genetic disease +GARD:0000594,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0000594,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0000594,GARD:0022531,GARD:0004037,,Rare genetic disease +GARD:0000594,GARD:0022520,GARD:0004037,,Rare ophthalmic disorder +GARD:0000594,GARD:0022508,GARD:0004037,,Rare inborn errors of metabolism +GARD:0000594,GARD:0022510,GARD:0004037,,Rare skin disease +GARD:0000599,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0000599,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0000599,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0000599,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0000599,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0000599,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0000600,GARD:0022522,GARD:0019460,,Rare hematologic disease +GARD:0000600,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0000600,GARD:0022531,GARD:0019460,,Rare genetic disease +GARD:0000600,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0000602,GARD:0022517,GARD:0019793,GARD:0015034,Rare respiratory disease +GARD:0000602,GARD:0022530,GARD:0019398,GARD:0015034,Rare allergic disease +GARD:0000604,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000604,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000604,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000604,GARD:0022531,GARD:0019448,,Rare genetic disease +GARD:0000604,GARD:0022510,GARD:0019448,,Rare skin disease +GARD:0000605,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000605,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000605,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000605,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000605,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000605,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000606,GARD:0022531,GARD:0020083,,Rare genetic disease +GARD:0000606,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0000606,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0000606,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0000606,GARD:0022524,GARD:0020083,,Rare neurologic disease +GARD:0000606,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0000607,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0000607,GARD:0022531,GARD:0021987,,Rare genetic disease +GARD:0000607,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0000607,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0000612,GARD:0022510,GARD:0018995,GARD:0004291,Rare skin disease +GARD:0000612,GARD:0022531,GARD:0022440,GARD:0016386,Rare genetic disease +GARD:0000612,GARD:0022524,GARD:0022440,GARD:0004291,Rare neurologic disease +GARD:0000612,GARD:0022531,GARD:0021987,GARD:0016386,Rare genetic disease +GARD:0000612,GARD:0022531,GARD:0021987,GARD:0004291,Rare genetic disease +GARD:0000612,GARD:0022524,GARD:0022440,GARD:0016386,Rare neurologic disease +GARD:0000612,GARD:0022510,GARD:0018995,GARD:0015730,Rare skin disease +GARD:0000612,GARD:0022531,GARD:0021987,GARD:0015730,Rare genetic disease +GARD:0000612,GARD:0022531,GARD:0022440,GARD:0015730,Rare genetic disease +GARD:0000612,GARD:0022524,GARD:0022440,GARD:0015730,Rare neurologic disease +GARD:0000612,GARD:0022531,GARD:0022440,GARD:0004291,Rare genetic disease +GARD:0000612,GARD:0022510,GARD:0018995,GARD:0016386,Rare skin disease +GARD:0000613,GARD:0022510,GARD:0018995,GARD:0015035,Rare skin disease +GARD:0000613,GARD:0022510,GARD:0018995,GARD:0001470,Rare skin disease +GARD:0000613,GARD:0022510,GARD:0018995,GARD:0015496,Rare skin disease +GARD:0000614,GARD:0022510,GARD:0018995,GARD:0015135,Rare skin disease +GARD:0000614,GARD:0022531,GARD:0021987,GARD:0015135,Rare genetic disease +GARD:0000614,GARD:0022510,GARD:0018995,GARD:0015496,Rare skin disease +GARD:0000614,GARD:0022531,GARD:0021987,GARD:0015496,Rare genetic disease +GARD:0000617,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0000617,GARD:0022531,GARD:0020556,,Rare genetic disease +GARD:0000617,GARD:0022531,GARD:0020753,,Rare genetic disease +GARD:0000617,GARD:0022508,GARD:0020753,,Rare inborn errors of metabolism +GARD:0000617,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0000617,GARD:0022531,GARD:0020555,,Rare genetic disease +GARD:0000617,GARD:0022524,GARD:0020556,,Rare neurologic disease +GARD:0000617,GARD:0022524,GARD:0020555,,Rare neurologic disease +GARD:0000621,GARD:0022531,GARD:0019231,GARD:0016992,Rare genetic disease +GARD:0000621,GARD:0022531,GARD:0021022,GARD:0016992,Rare genetic disease +GARD:0000621,GARD:0022536,GARD:0021022,GARD:0016992,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000621,GARD:0022531,GARD:0021022,GARD:0016829,Rare genetic disease +GARD:0000621,GARD:0022522,GARD:0021022,GARD:0016992,Rare hematologic disease +GARD:0000621,GARD:0022522,GARD:0021022,GARD:0016829,Rare hematologic disease +GARD:0000621,GARD:0022536,GARD:0021022,GARD:0016829,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000621,GARD:0022531,GARD:0019231,GARD:0016829,Rare genetic disease +GARD:0000624,GARD:0022528,GARD:0005785,,Rare otorhinolaryngologic disease +GARD:0000624,GARD:0022531,GARD:0005785,,Rare genetic disease +GARD:0000624,GARD:0022512,GARD:0005785,,Rare renal disease +GARD:0000624,GARD:0022536,GARD:0005785,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000624,GARD:0022520,GARD:0005785,,Rare ophthalmic disorder +GARD:0000624,GARD:0022513,GARD:0005785,,Rare developmental defect during embryogenesis +GARD:0000625,GARD:0022513,GARD:0005785,,Rare developmental defect during embryogenesis +GARD:0000625,GARD:0022528,GARD:0005785,,Rare otorhinolaryngologic disease +GARD:0000625,GARD:0022536,GARD:0005785,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000625,GARD:0022512,GARD:0005785,,Rare renal disease +GARD:0000625,GARD:0022520,GARD:0005785,,Rare ophthalmic disorder +GARD:0000625,GARD:0022531,GARD:0005785,,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0015950,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0010490,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0009983,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0010883,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0010883,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0016359,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0010489,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0010488,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0010490,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0009662,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0010884,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0010488,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0000635,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0009662,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0009491,Rare genetic disease +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0010490,Rare neurologic disease +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0010487,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0000636,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0000636,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0010880,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0015950,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0009983,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0009662,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0000636,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0010885,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0010489,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0009661,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0016359,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0010882,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0010881,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0015109,Rare genetic disease +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0010882,Rare neurologic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0010883,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0010490,Rare genetic disease +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0015950,Rare neurologic disease +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0010884,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0009983,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0010885,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0009491,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0010880,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0010490,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0000635,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0009983,Rare ophthalmic disorder +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0009662,Rare neurologic disease +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0010883,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0010881,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0010487,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0015950,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0010883,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0009983,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0010489,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0009661,Rare genetic disease +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0010489,Rare neurologic disease +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0000636,Rare neurologic disease +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0016359,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0010884,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0000635,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0000636,Rare genetic disease +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0009491,Rare neurologic disease +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0010487,Rare neurologic disease +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0010883,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0009661,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0010881,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0010882,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0010487,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0009661,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0000635,Rare genetic disease +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0010885,Rare neurologic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0010885,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0010885,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0000635,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0000635,Rare ophthalmic disorder +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0010881,Rare neurologic disease +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0000635,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0010487,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0010490,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0009491,Rare genetic disease +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0010883,Rare neurologic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0010489,Rare genetic disease +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0000635,Rare neurologic disease +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0000636,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0009662,Rare ophthalmic disorder +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0009661,Rare neurologic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0009661,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0010488,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0009983,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0010487,Rare genetic disease +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0010488,Rare neurologic disease +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0010489,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0009491,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0010884,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0000636,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0015109,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0010490,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0010885,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0010880,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0010488,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0010489,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0010489,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0009983,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0010884,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0009661,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0010489,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0010880,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0010881,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0010882,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0010882,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0009662,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0010488,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0010882,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0010881,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0009491,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0009662,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0015950,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0010885,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0009983,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0010488,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0010487,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0010880,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0010880,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0010882,Rare genetic disease +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0010880,Rare neurologic disease +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0010490,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0009662,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0015950,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0015950,Rare ophthalmic disorder +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0009983,Rare neurologic disease +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0010487,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0000636,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0010885,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0015109,Rare ophthalmic disorder +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0010884,Rare neurologic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0010490,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0009491,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0015109,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0015950,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0015109,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0010885,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0010880,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0009491,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0000635,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0016359,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0015109,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0009662,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0010487,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0010881,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0000636,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0010884,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0015109,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0010883,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0016359,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0010488,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0010880,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0009661,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0009661,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0010488,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0016359,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0010881,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0009491,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0010884,Rare genetic disease +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0016359,Rare neurologic disease +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0010884,Rare genetic disease +GARD:0000634,GARD:0022524,GARD:0022440,GARD:0015109,Rare neurologic disease +GARD:0000634,GARD:0022531,GARD:0022099,GARD:0015950,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022170,GARD:0016359,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0022440,GARD:0010882,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019527,GARD:0010881,Rare ophthalmic disorder +GARD:0000634,GARD:0022520,GARD:0022099,GARD:0010883,Rare ophthalmic disorder +GARD:0000634,GARD:0022531,GARD:0019516,GARD:0016359,Rare genetic disease +GARD:0000634,GARD:0022531,GARD:0019990,GARD:0015109,Rare genetic disease +GARD:0000634,GARD:0022520,GARD:0019516,GARD:0010882,Rare ophthalmic disorder +GARD:0000635,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0000635,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0000635,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0000636,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0000636,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0000636,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0000637,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0000637,GARD:0022510,GARD:0018996,,Rare skin disease +GARD:0000637,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0000637,GARD:0022531,GARD:0018996,,Rare genetic disease +GARD:0000640,GARD:0022531,GARD:0018889,,Rare genetic disease +GARD:0000640,GARD:0022522,GARD:0018889,,Rare hematologic disease +GARD:0000640,GARD:0022536,GARD:0018889,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000640,GARD:0022522,GARD:0021968,,Rare hematologic disease +GARD:0000640,GARD:0022531,GARD:0021968,,Rare genetic disease +GARD:0000645,GARD:0022526,GARD:0005791,GARD:0016076,Rare odontologic disease +GARD:0000645,GARD:0022526,GARD:0005791,GARD:0016071,Rare odontologic disease +GARD:0000645,GARD:0022531,GARD:0005791,GARD:0015037,Rare genetic disease +GARD:0000645,GARD:0022526,GARD:0005791,GARD:0015037,Rare odontologic disease +GARD:0000645,GARD:0022531,GARD:0005791,GARD:0015136,Rare genetic disease +GARD:0000645,GARD:0022531,GARD:0005791,GARD:0009944,Rare genetic disease +GARD:0000645,GARD:0022531,GARD:0005791,GARD:0016220,Rare genetic disease +GARD:0000645,GARD:0022531,GARD:0005791,GARD:0016076,Rare genetic disease +GARD:0000645,GARD:0022531,GARD:0005791,GARD:0016071,Rare genetic disease +GARD:0000645,GARD:0022531,GARD:0005791,GARD:0015038,Rare genetic disease +GARD:0000645,GARD:0022526,GARD:0005791,GARD:0015136,Rare odontologic disease +GARD:0000645,GARD:0022526,GARD:0005791,GARD:0016220,Rare odontologic disease +GARD:0000645,GARD:0022526,GARD:0005791,GARD:0015038,Rare odontologic disease +GARD:0000645,GARD:0022526,GARD:0005791,GARD:0009944,Rare odontologic disease +GARD:0000646,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0000646,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0000646,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0000646,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000646,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0000646,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0000647,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000647,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000647,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000654,GARD:0022508,GARD:0018953,,Rare inborn errors of metabolism +GARD:0000654,GARD:0022531,GARD:0018953,,Rare genetic disease +GARD:0000654,GARD:0022531,GARD:0021873,,Rare genetic disease +GARD:0000664,GARD:0022521,GARD:0019763,,Rare endocrine disease +GARD:0000664,GARD:0022535,GARD:0019763,,Rare neoplastic disease +GARD:0000668,GARD:0022508,GARD:0020764,,Rare inborn errors of metabolism +GARD:0000668,GARD:0022531,GARD:0020665,,Rare genetic disease +GARD:0000668,GARD:0022531,GARD:0020764,,Rare genetic disease +GARD:0000668,GARD:0022531,GARD:0019453,,Rare genetic disease +GARD:0000668,GARD:0022522,GARD:0019453,,Rare hematologic disease +GARD:0000668,GARD:0022524,GARD:0020665,,Rare neurologic disease +GARD:0000670,GARD:0022513,GARD:0019557,,Rare developmental defect during embryogenesis +GARD:0000670,GARD:0022527,GARD:0019557,,Rare circulatory system disease +GARD:0000670,GARD:0022519,GARD:0019557,,Rare surgical cardiac disease +GARD:0000671,GARD:0022513,GARD:0019194,,Rare developmental defect during embryogenesis +GARD:0000671,GARD:0022531,GARD:0019194,,Rare genetic disease +GARD:0000671,GARD:0022511,GARD:0019194,,Rare bone disease +GARD:0000676,GARD:0022524,GARD:0020091,,Rare neurologic disease +GARD:0000676,GARD:0022531,GARD:0021614,,Rare genetic disease +GARD:0000676,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0000676,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0000676,GARD:0022531,GARD:0021923,,Rare genetic disease +GARD:0000676,GARD:0022524,GARD:0019819,,Rare neurologic disease +GARD:0000676,GARD:0022527,GARD:0020458,,Rare circulatory system disease +GARD:0000676,GARD:0022513,GARD:0020458,,Rare developmental defect during embryogenesis +GARD:0000676,GARD:0022535,GARD:0020458,,Rare neoplastic disease +GARD:0000676,GARD:0022531,GARD:0020091,,Rare genetic disease +GARD:0000683,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0000685,GARD:0022513,GARD:0019494,,Rare developmental defect during embryogenesis +GARD:0000685,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0000685,GARD:0022531,GARD:0019494,,Rare genetic disease +GARD:0000685,GARD:0022520,GARD:0019494,,Rare ophthalmic disorder +GARD:0000685,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0000689,GARD:0022513,GARD:0019494,,Rare developmental defect during embryogenesis +GARD:0000689,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000689,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000689,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0000689,GARD:0022531,GARD:0019494,,Rare genetic disease +GARD:0000689,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000689,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0000689,GARD:0022520,GARD:0019494,,Rare ophthalmic disorder +GARD:0000690,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0000690,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000690,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0000690,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000690,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0000690,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000690,GARD:0022531,GARD:0019494,,Rare genetic disease +GARD:0000690,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0000690,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0000690,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0000690,GARD:0022513,GARD:0019494,,Rare developmental defect during embryogenesis +GARD:0000690,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000690,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0000690,GARD:0022520,GARD:0019494,,Rare ophthalmic disorder +GARD:0000693,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0000696,GARD:0022513,GARD:0006571,,Rare developmental defect during embryogenesis +GARD:0000696,GARD:0022520,GARD:0006571,,Rare ophthalmic disorder +GARD:0000696,GARD:0022507,GARD:0006571,,Rare maxillo-facial surgical disease +GARD:0000696,GARD:0022528,GARD:0006571,,Rare otorhinolaryngologic disease +GARD:0000696,GARD:0022511,GARD:0006571,,Rare bone disease +GARD:0000696,GARD:0022510,GARD:0006571,,Rare skin disease +GARD:0000696,GARD:0022531,GARD:0006571,,Rare genetic disease +GARD:0000697,GARD:0022528,GARD:0006571,,Rare otorhinolaryngologic disease +GARD:0000697,GARD:0022513,GARD:0006571,,Rare developmental defect during embryogenesis +GARD:0000697,GARD:0022510,GARD:0006571,,Rare skin disease +GARD:0000697,GARD:0022511,GARD:0006571,,Rare bone disease +GARD:0000697,GARD:0022520,GARD:0006571,,Rare ophthalmic disorder +GARD:0000697,GARD:0022531,GARD:0006571,,Rare genetic disease +GARD:0000697,GARD:0022507,GARD:0006571,,Rare maxillo-facial surgical disease +GARD:0000701,GARD:0022526,GARD:0020055,,Rare odontologic disease +GARD:0000701,GARD:0022531,GARD:0021748,,Rare genetic disease +GARD:0000705,GARD:0022513,GARD:0019861,,Rare developmental defect during embryogenesis +GARD:0000705,GARD:0022536,GARD:0019861,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000705,GARD:0022534,GARD:0019861,,Rare abdominal surgical disease +GARD:0000705,GARD:0022531,GARD:0019861,,Rare genetic disease +GARD:0000710,GARD:0022513,GARD:0010048,GARD:0015040,Rare developmental defect during embryogenesis +GARD:0000710,GARD:0022531,GARD:0010048,GARD:0015040,Rare genetic disease +GARD:0000710,GARD:0022510,GARD:0010048,GARD:0015040,Rare skin disease +GARD:0000710,GARD:0022531,GARD:0010048,GARD:0015762,Rare genetic disease +GARD:0000710,GARD:0022513,GARD:0010048,GARD:0015762,Rare developmental defect during embryogenesis +GARD:0000710,GARD:0022510,GARD:0010048,GARD:0015762,Rare skin disease +GARD:0000713,GARD:0022531,GARD:0019867,GARD:0013235,Rare genetic disease +GARD:0000713,GARD:0022517,GARD:0020249,GARD:0013235,Rare respiratory disease +GARD:0000713,GARD:0022531,GARD:0020311,GARD:0013235,Rare genetic disease +GARD:0000713,GARD:0022513,GARD:0019864,GARD:0013235,Rare developmental defect during embryogenesis +GARD:0000713,GARD:0022520,GARD:0020342,GARD:0013235,Rare ophthalmic disorder +GARD:0000713,GARD:0022517,GARD:0020248,GARD:0013235,Rare respiratory disease +GARD:0000713,GARD:0022531,GARD:0021507,GARD:0013235,Rare genetic disease +GARD:0000713,GARD:0022518,GARD:0019868,GARD:0013235,Rare surgical thoracic disease +GARD:0000713,GARD:0022531,GARD:0022441,GARD:0013235,Rare genetic disease +GARD:0000713,GARD:0022513,GARD:0019832,GARD:0013235,Rare developmental defect during embryogenesis +GARD:0000713,GARD:0022513,GARD:0019833,GARD:0013235,Rare developmental defect during embryogenesis +GARD:0000713,GARD:0022534,GARD:0019864,GARD:0013235,Rare abdominal surgical disease +GARD:0000713,GARD:0022518,GARD:0020212,GARD:0013235,Rare surgical thoracic disease +GARD:0000713,GARD:0022531,GARD:0020342,GARD:0013235,Rare genetic disease +GARD:0000713,GARD:0022524,GARD:0019832,GARD:0013235,Rare neurologic disease +GARD:0000713,GARD:0022513,GARD:0019868,GARD:0013235,Rare developmental defect during embryogenesis +GARD:0000713,GARD:0022513,GARD:0020342,GARD:0013235,Rare developmental defect during embryogenesis +GARD:0000717,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000717,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000719,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000719,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000722,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0000722,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000722,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000722,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000722,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0000722,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0000730,GARD:0022523,GARD:0022523,,Rare immune disease +GARD:0000731,GARD:0022531,GARD:0018873,,Rare genetic disease +GARD:0000731,GARD:0022531,GARD:0020685,,Rare genetic disease +GARD:0000731,GARD:0022522,GARD:0018873,,Rare hematologic disease +GARD:0000735,GARD:0022525,GARD:0009128,,Rare systemic or rheumatologic disease +GARD:0000735,GARD:0022536,GARD:0020933,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000735,GARD:0022524,GARD:0009128,,Rare neurologic disease +GARD:0000735,GARD:0022517,GARD:0020933,,Rare respiratory disease +GARD:0000738,GARD:0022519,GARD:0008189,,Rare surgical cardiac disease +GARD:0000738,GARD:0022513,GARD:0008189,,Rare developmental defect during embryogenesis +GARD:0000739,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000739,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000739,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000740,GARD:0022513,GARD:0019552,,Rare developmental defect during embryogenesis +GARD:0000740,GARD:0022519,GARD:0019552,,Rare surgical cardiac disease +GARD:0000740,GARD:0022527,GARD:0019552,,Rare circulatory system disease +GARD:0000741,GARD:0022527,GARD:0019556,GARD:0019638,Rare circulatory system disease +GARD:0000741,GARD:0022527,GARD:0019556,GARD:0019637,Rare circulatory system disease +GARD:0000741,GARD:0022513,GARD:0019868,GARD:0019639,Rare developmental defect during embryogenesis +GARD:0000741,GARD:0022518,GARD:0019868,GARD:0019639,Rare surgical thoracic disease +GARD:0000741,GARD:0022517,GARD:0020249,GARD:0019637,Rare respiratory disease +GARD:0000741,GARD:0022518,GARD:0019868,GARD:0019641,Rare surgical thoracic disease +GARD:0000741,GARD:0022517,GARD:0020249,GARD:0019636,Rare respiratory disease +GARD:0000741,GARD:0022518,GARD:0019868,GARD:0019640,Rare surgical thoracic disease +GARD:0000741,GARD:0022513,GARD:0019868,GARD:0019635,Rare developmental defect during embryogenesis +GARD:0000741,GARD:0022518,GARD:0019868,GARD:0019637,Rare surgical thoracic disease +GARD:0000741,GARD:0022517,GARD:0020249,GARD:0019641,Rare respiratory disease +GARD:0000741,GARD:0022519,GARD:0019556,GARD:0019637,Rare surgical cardiac disease +GARD:0000741,GARD:0022517,GARD:0020249,GARD:0019639,Rare respiratory disease +GARD:0000741,GARD:0022519,GARD:0019556,GARD:0019636,Rare surgical cardiac disease +GARD:0000741,GARD:0022513,GARD:0019868,GARD:0019637,Rare developmental defect during embryogenesis +GARD:0000741,GARD:0022513,GARD:0019556,GARD:0019637,Rare developmental defect during embryogenesis +GARD:0000741,GARD:0022513,GARD:0019868,GARD:0019641,Rare developmental defect during embryogenesis +GARD:0000741,GARD:0022527,GARD:0019556,GARD:0019636,Rare circulatory system disease +GARD:0000741,GARD:0022519,GARD:0019556,GARD:0019638,Rare surgical cardiac disease +GARD:0000741,GARD:0022513,GARD:0019556,GARD:0019640,Rare developmental defect during embryogenesis +GARD:0000741,GARD:0022513,GARD:0019556,GARD:0019635,Rare developmental defect during embryogenesis +GARD:0000741,GARD:0022513,GARD:0019556,GARD:0019641,Rare developmental defect during embryogenesis +GARD:0000741,GARD:0022517,GARD:0020249,GARD:0019635,Rare respiratory disease +GARD:0000741,GARD:0022519,GARD:0019556,GARD:0019639,Rare surgical cardiac disease +GARD:0000741,GARD:0022527,GARD:0019556,GARD:0019635,Rare circulatory system disease +GARD:0000741,GARD:0022513,GARD:0019868,GARD:0019636,Rare developmental defect during embryogenesis +GARD:0000741,GARD:0022519,GARD:0019556,GARD:0019640,Rare surgical cardiac disease +GARD:0000741,GARD:0022513,GARD:0019556,GARD:0019638,Rare developmental defect during embryogenesis +GARD:0000741,GARD:0022527,GARD:0019556,GARD:0019641,Rare circulatory system disease +GARD:0000741,GARD:0022513,GARD:0019556,GARD:0019636,Rare developmental defect during embryogenesis +GARD:0000741,GARD:0022527,GARD:0019556,GARD:0019639,Rare circulatory system disease +GARD:0000741,GARD:0022518,GARD:0019868,GARD:0019636,Rare surgical thoracic disease +GARD:0000741,GARD:0022519,GARD:0019556,GARD:0019641,Rare surgical cardiac disease +GARD:0000741,GARD:0022513,GARD:0019556,GARD:0019639,Rare developmental defect during embryogenesis +GARD:0000741,GARD:0022517,GARD:0020249,GARD:0019640,Rare respiratory disease +GARD:0000741,GARD:0022513,GARD:0019868,GARD:0019640,Rare developmental defect during embryogenesis +GARD:0000741,GARD:0022527,GARD:0019556,GARD:0019640,Rare circulatory system disease +GARD:0000741,GARD:0022519,GARD:0019556,GARD:0019635,Rare surgical cardiac disease +GARD:0000741,GARD:0022513,GARD:0019868,GARD:0019638,Rare developmental defect during embryogenesis +GARD:0000741,GARD:0022517,GARD:0020249,GARD:0019638,Rare respiratory disease +GARD:0000741,GARD:0022518,GARD:0019868,GARD:0019638,Rare surgical thoracic disease +GARD:0000741,GARD:0022518,GARD:0019868,GARD:0019635,Rare surgical thoracic disease +GARD:0000743,GARD:0022513,GARD:0019552,,Rare developmental defect during embryogenesis +GARD:0000743,GARD:0022519,GARD:0019552,,Rare surgical cardiac disease +GARD:0000743,GARD:0022531,GARD:0021016,,Rare genetic disease +GARD:0000743,GARD:0022527,GARD:0019552,,Rare circulatory system disease +GARD:0000748,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0000748,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0000748,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0000748,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0000748,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0000748,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0000753,GARD:0022510,GARD:0019009,,Rare skin disease +GARD:0000753,GARD:0022531,GARD:0020274,,Rare genetic disease +GARD:0000753,GARD:0022527,GARD:0022297,,Rare circulatory system disease +GARD:0000753,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0000753,GARD:0022513,GARD:0022297,,Rare developmental defect during embryogenesis +GARD:0000753,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0000753,GARD:0022531,GARD:0022297,,Rare genetic disease +GARD:0000753,GARD:0022531,GARD:0020060,,Rare genetic disease +GARD:0000753,GARD:0022510,GARD:0022297,,Rare skin disease +GARD:0000753,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0000756,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0000756,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0000756,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0000756,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0000756,GARD:0022531,GARD:0020274,,Rare genetic disease +GARD:0000756,GARD:0022510,GARD:0019009,,Rare skin disease +GARD:0000759,GARD:0022531,GARD:0006414,,Rare genetic disease +GARD:0000759,GARD:0022508,GARD:0006414,,Rare inborn errors of metabolism +GARD:0000759,GARD:0022521,GARD:0006414,,Rare endocrine disease +GARD:0000764,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000764,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000764,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000770,GARD:0022531,GARD:0021351,,Rare genetic disease +GARD:0000770,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0000770,GARD:0022508,GARD:0021351,,Rare inborn errors of metabolism +GARD:0000770,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0000774,GARD:0022518,GARD:0021130,,Rare surgical thoracic disease +GARD:0000774,GARD:0022531,GARD:0006227,,Rare genetic disease +GARD:0000774,GARD:0022527,GARD:0021130,,Rare circulatory system disease +GARD:0000774,GARD:0022534,GARD:0006227,,Rare abdominal surgical disease +GARD:0000774,GARD:0022513,GARD:0006227,,Rare developmental defect during embryogenesis +GARD:0000774,GARD:0022531,GARD:0021130,,Rare genetic disease +GARD:0000774,GARD:0022518,GARD:0006227,,Rare surgical thoracic disease +GARD:0000774,GARD:0022510,GARD:0006227,,Rare skin disease +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0006973,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0000794,Rare genetic disease +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0016604,Rare genetic disease +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0010277,Rare genetic disease +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0018022,Rare genetic disease +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0003053,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0003382,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0003361,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0017743,Rare genetic disease +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0006973,Rare genetic disease +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0018030,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0017111,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0008521,Rare genetic disease +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0017882,Rare genetic disease +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0003053,Rare genetic disease +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0007890,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0009634,Rare genetic disease +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0000792,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0009634,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0008521,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0003150,Rare genetic disease +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0017882,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0018022,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0003650,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0000790,Rare genetic disease +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0016658,Rare genetic disease +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0016604,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0017111,Rare genetic disease +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0017447,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0022035,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0000792,Rare genetic disease +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0016658,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0007890,Rare genetic disease +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0003382,Rare genetic disease +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0022035,Rare genetic disease +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0000790,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0017447,Rare genetic disease +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0017743,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0018030,Rare genetic disease +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0000794,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0003361,Rare genetic disease +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0010277,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022513,GARD:0019870,GARD:0003150,Rare developmental defect during embryogenesis +GARD:0000777,GARD:0022531,GARD:0019870,GARD:0003650,Rare genetic disease +GARD:0000784,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0000784,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0000784,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0000784,GARD:0022531,GARD:0000786,,Rare genetic disease +GARD:0000784,GARD:0022513,GARD:0000786,,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0016556,Rare genetic disease +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0016672,Rare genetic disease +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0004047,Rare genetic disease +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0005899,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0013059,Rare genetic disease +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0000787,Rare genetic disease +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0016075,Rare genetic disease +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0013058,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0004047,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0016672,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0004269,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0016556,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0008486,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0017604,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0013058,Rare genetic disease +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0005029,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0008486,Rare genetic disease +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0000784,Rare genetic disease +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0004269,Rare genetic disease +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0002621,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0005029,Rare genetic disease +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0006466,Rare genetic disease +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0016075,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0017212,Rare genetic disease +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0005899,Rare genetic disease +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0000784,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0006466,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0002553,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0002621,Rare genetic disease +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0017212,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0013059,Rare developmental defect during embryogenesis +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0017604,Rare genetic disease +GARD:0000786,GARD:0022531,GARD:0019870,GARD:0002553,Rare genetic disease +GARD:0000786,GARD:0022513,GARD:0019870,GARD:0000787,Rare developmental defect during embryogenesis +GARD:0000787,GARD:0022524,GARD:0019563,GARD:0016421,Rare neurologic disease +GARD:0000787,GARD:0022531,GARD:0000786,GARD:0015059,Rare genetic disease +GARD:0000787,GARD:0022531,GARD:0019563,GARD:0015790,Rare genetic disease +GARD:0000787,GARD:0022513,GARD:0000786,GARD:0015059,Rare developmental defect during embryogenesis +GARD:0000787,GARD:0022513,GARD:0019833,GARD:0016351,Rare developmental defect during embryogenesis +GARD:0000787,GARD:0022531,GARD:0000786,GARD:0015790,Rare genetic disease +GARD:0000787,GARD:0022513,GARD:0019833,GARD:0015059,Rare developmental defect during embryogenesis +GARD:0000787,GARD:0022531,GARD:0021507,GARD:0016351,Rare genetic disease +GARD:0000787,GARD:0022531,GARD:0000786,GARD:0016351,Rare genetic disease +GARD:0000787,GARD:0022524,GARD:0019563,GARD:0016351,Rare neurologic disease +GARD:0000787,GARD:0022531,GARD:0021507,GARD:0015790,Rare genetic disease +GARD:0000787,GARD:0022524,GARD:0019563,GARD:0015059,Rare neurologic disease +GARD:0000787,GARD:0022513,GARD:0019833,GARD:0016421,Rare developmental defect during embryogenesis +GARD:0000787,GARD:0022524,GARD:0019563,GARD:0015790,Rare neurologic disease +GARD:0000787,GARD:0022531,GARD:0021507,GARD:0016421,Rare genetic disease +GARD:0000787,GARD:0022531,GARD:0021507,GARD:0015059,Rare genetic disease +GARD:0000787,GARD:0022531,GARD:0019563,GARD:0015059,Rare genetic disease +GARD:0000787,GARD:0022513,GARD:0019833,GARD:0015790,Rare developmental defect during embryogenesis +GARD:0000787,GARD:0022531,GARD:0019563,GARD:0016351,Rare genetic disease +GARD:0000787,GARD:0022513,GARD:0000786,GARD:0016421,Rare developmental defect during embryogenesis +GARD:0000787,GARD:0022531,GARD:0019563,GARD:0016421,Rare genetic disease +GARD:0000787,GARD:0022513,GARD:0000786,GARD:0016351,Rare developmental defect during embryogenesis +GARD:0000787,GARD:0022531,GARD:0000786,GARD:0016421,Rare genetic disease +GARD:0000787,GARD:0022513,GARD:0000786,GARD:0015790,Rare developmental defect during embryogenesis +GARD:0000790,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0000790,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0000792,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0000792,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0000792,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0000792,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0000792,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0000792,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0000794,GARD:0022531,GARD:0019218,GARD:0015658,Rare genetic disease +GARD:0000794,GARD:0022513,GARD:0019218,GARD:0015139,Rare developmental defect during embryogenesis +GARD:0000794,GARD:0022510,GARD:0021113,GARD:0015139,Rare skin disease +GARD:0000794,GARD:0022531,GARD:0021113,GARD:0015139,Rare genetic disease +GARD:0000794,GARD:0022513,GARD:0000777,GARD:0015658,Rare developmental defect during embryogenesis +GARD:0000794,GARD:0022531,GARD:0019218,GARD:0015139,Rare genetic disease +GARD:0000794,GARD:0022512,GARD:0019218,GARD:0015139,Rare renal disease +GARD:0000794,GARD:0022531,GARD:0020006,GARD:0015658,Rare genetic disease +GARD:0000794,GARD:0022531,GARD:0021347,GARD:0015658,Rare genetic disease +GARD:0000794,GARD:0022531,GARD:0000777,GARD:0015139,Rare genetic disease +GARD:0000794,GARD:0022531,GARD:0021347,GARD:0015139,Rare genetic disease +GARD:0000794,GARD:0022506,GARD:0019791,GARD:0015658,Rare hepatic disease +GARD:0000794,GARD:0022531,GARD:0000777,GARD:0015658,Rare genetic disease +GARD:0000794,GARD:0022512,GARD:0019218,GARD:0015658,Rare renal disease +GARD:0000794,GARD:0022506,GARD:0019791,GARD:0015139,Rare hepatic disease +GARD:0000794,GARD:0022510,GARD:0021113,GARD:0015658,Rare skin disease +GARD:0000794,GARD:0022536,GARD:0019218,GARD:0015658,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000794,GARD:0022536,GARD:0019218,GARD:0015139,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000794,GARD:0022508,GARD:0021347,GARD:0015658,Rare inborn errors of metabolism +GARD:0000794,GARD:0022508,GARD:0021347,GARD:0015139,Rare inborn errors of metabolism +GARD:0000794,GARD:0022531,GARD:0021113,GARD:0015658,Rare genetic disease +GARD:0000794,GARD:0022513,GARD:0000777,GARD:0015139,Rare developmental defect during embryogenesis +GARD:0000794,GARD:0022513,GARD:0019218,GARD:0015658,Rare developmental defect during embryogenesis +GARD:0000794,GARD:0022531,GARD:0020006,GARD:0015139,Rare genetic disease +GARD:0000802,GARD:0022513,GARD:0019554,GARD:0004229,Rare developmental defect during embryogenesis +GARD:0000802,GARD:0022531,GARD:0021016,GARD:0022325,Rare genetic disease +GARD:0000802,GARD:0022513,GARD:0019554,GARD:0001454,Rare developmental defect during embryogenesis +GARD:0000802,GARD:0022519,GARD:0019554,GARD:0001454,Rare surgical cardiac disease +GARD:0000802,GARD:0022519,GARD:0019554,GARD:0004229,Rare surgical cardiac disease +GARD:0000802,GARD:0022513,GARD:0019554,GARD:0022325,Rare developmental defect during embryogenesis +GARD:0000802,GARD:0022519,GARD:0019554,GARD:0022325,Rare surgical cardiac disease +GARD:0000802,GARD:0022531,GARD:0021016,GARD:0001454,Rare genetic disease +GARD:0000802,GARD:0022531,GARD:0021016,GARD:0004229,Rare genetic disease +GARD:0000804,GARD:0022519,GARD:0020003,GARD:0017252,Rare surgical cardiac disease +GARD:0000804,GARD:0022520,GARD:0022084,GARD:0017251,Rare ophthalmic disorder +GARD:0000804,GARD:0022513,GARD:0019833,GARD:0017251,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022506,GARD:0019791,GARD:0017252,Rare hepatic disease +GARD:0000804,GARD:0022513,GARD:0019833,GARD:0017252,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022513,GARD:0020003,GARD:0017252,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022513,GARD:0019833,GARD:0017250,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022531,GARD:0021507,GARD:0017252,Rare genetic disease +GARD:0000804,GARD:0022531,GARD:0020006,GARD:0017252,Rare genetic disease +GARD:0000804,GARD:0022536,GARD:0019218,GARD:0017250,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000804,GARD:0022531,GARD:0022084,GARD:0017252,Rare genetic disease +GARD:0000804,GARD:0022536,GARD:0022060,GARD:0017251,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000804,GARD:0022513,GARD:0019862,GARD:0017252,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022536,GARD:0019218,GARD:0017252,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000804,GARD:0022531,GARD:0021507,GARD:0017250,Rare genetic disease +GARD:0000804,GARD:0022506,GARD:0019791,GARD:0017250,Rare hepatic disease +GARD:0000804,GARD:0022535,GARD:0020259,GARD:0017250,Rare neoplastic disease +GARD:0000804,GARD:0022520,GARD:0022084,GARD:0017252,Rare ophthalmic disorder +GARD:0000804,GARD:0022534,GARD:0019862,GARD:0017250,Rare abdominal surgical disease +GARD:0000804,GARD:0022519,GARD:0020003,GARD:0017250,Rare surgical cardiac disease +GARD:0000804,GARD:0022519,GARD:0020003,GARD:0017251,Rare surgical cardiac disease +GARD:0000804,GARD:0022531,GARD:0020259,GARD:0017252,Rare genetic disease +GARD:0000804,GARD:0022531,GARD:0020003,GARD:0017252,Rare genetic disease +GARD:0000804,GARD:0022531,GARD:0019218,GARD:0017251,Rare genetic disease +GARD:0000804,GARD:0022513,GARD:0020003,GARD:0017250,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022531,GARD:0022084,GARD:0017251,Rare genetic disease +GARD:0000804,GARD:0022513,GARD:0019218,GARD:0017252,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022531,GARD:0020006,GARD:0017250,Rare genetic disease +GARD:0000804,GARD:0022535,GARD:0020259,GARD:0017251,Rare neoplastic disease +GARD:0000804,GARD:0022506,GARD:0019791,GARD:0017251,Rare hepatic disease +GARD:0000804,GARD:0022513,GARD:0022084,GARD:0017251,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022531,GARD:0020003,GARD:0017251,Rare genetic disease +GARD:0000804,GARD:0022531,GARD:0020006,GARD:0017251,Rare genetic disease +GARD:0000804,GARD:0022531,GARD:0019218,GARD:0017250,Rare genetic disease +GARD:0000804,GARD:0022536,GARD:0022060,GARD:0017252,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000804,GARD:0022536,GARD:0022060,GARD:0017250,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000804,GARD:0022513,GARD:0022084,GARD:0017250,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022531,GARD:0019862,GARD:0017252,Rare genetic disease +GARD:0000804,GARD:0022513,GARD:0019218,GARD:0017250,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022531,GARD:0019862,GARD:0017251,Rare genetic disease +GARD:0000804,GARD:0022534,GARD:0019862,GARD:0017252,Rare abdominal surgical disease +GARD:0000804,GARD:0022512,GARD:0019218,GARD:0017250,Rare renal disease +GARD:0000804,GARD:0022512,GARD:0019218,GARD:0017252,Rare renal disease +GARD:0000804,GARD:0022513,GARD:0020003,GARD:0017251,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022531,GARD:0020259,GARD:0017251,Rare genetic disease +GARD:0000804,GARD:0022531,GARD:0019862,GARD:0017250,Rare genetic disease +GARD:0000804,GARD:0022534,GARD:0019862,GARD:0017251,Rare abdominal surgical disease +GARD:0000804,GARD:0022512,GARD:0019218,GARD:0017251,Rare renal disease +GARD:0000804,GARD:0022513,GARD:0022084,GARD:0017252,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022536,GARD:0019218,GARD:0017251,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000804,GARD:0022531,GARD:0021507,GARD:0017251,Rare genetic disease +GARD:0000804,GARD:0022531,GARD:0020259,GARD:0017250,Rare genetic disease +GARD:0000804,GARD:0022520,GARD:0022084,GARD:0017250,Rare ophthalmic disorder +GARD:0000804,GARD:0022531,GARD:0022084,GARD:0017250,Rare genetic disease +GARD:0000804,GARD:0022513,GARD:0019218,GARD:0017251,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022513,GARD:0019862,GARD:0017250,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022535,GARD:0020259,GARD:0017252,Rare neoplastic disease +GARD:0000804,GARD:0022531,GARD:0020003,GARD:0017250,Rare genetic disease +GARD:0000804,GARD:0022513,GARD:0019862,GARD:0017251,Rare developmental defect during embryogenesis +GARD:0000804,GARD:0022531,GARD:0019218,GARD:0017252,Rare genetic disease +GARD:0000806,GARD:0022524,GARD:0019770,,Rare neurologic disease +GARD:0000806,GARD:0022531,GARD:0019770,,Rare genetic disease +GARD:0000809,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0000812,GARD:0022521,GARD:0019800,,Rare endocrine disease +GARD:0000812,GARD:0022531,GARD:0020317,,Rare genetic disease +GARD:0000813,GARD:0022531,GARD:0019212,,Rare genetic disease +GARD:0000813,GARD:0022513,GARD:0019212,,Rare developmental defect during embryogenesis +GARD:0000813,GARD:0022511,GARD:0019212,,Rare bone disease +GARD:0000816,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0000816,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0000816,GARD:0022531,GARD:0016822,,Rare genetic disease +GARD:0000816,GARD:0022513,GARD:0016822,,Rare developmental defect during embryogenesis +GARD:0000816,GARD:0022507,GARD:0010692,,Rare maxillo-facial surgical disease +GARD:0000816,GARD:0022511,GARD:0010692,,Rare bone disease +GARD:0000816,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000816,GARD:0022528,GARD:0010692,,Rare otorhinolaryngologic disease +GARD:0000816,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000816,GARD:0022517,GARD:0020248,,Rare respiratory disease +GARD:0000816,GARD:0022513,GARD:0010692,,Rare developmental defect during embryogenesis +GARD:0000816,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0000816,GARD:0022511,GARD:0016822,,Rare bone disease +GARD:0000816,GARD:0022531,GARD:0010692,,Rare genetic disease +GARD:0000816,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000819,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000819,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000819,GARD:0022520,GARD:0019503,,Rare ophthalmic disorder +GARD:0000819,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000819,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000819,GARD:0022510,GARD:0018996,,Rare skin disease +GARD:0000819,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000819,GARD:0022531,GARD:0018996,,Rare genetic disease +GARD:0000819,GARD:0022531,GARD:0019503,,Rare genetic disease +GARD:0000819,GARD:0022513,GARD:0019503,,Rare developmental defect during embryogenesis +GARD:0000820,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0000820,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0000820,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0000820,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0000820,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000820,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0000820,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0000820,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0000820,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0000820,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0000820,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0000821,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0000821,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0000821,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0000821,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000821,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0000821,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0000821,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0000821,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0000821,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0000821,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0000821,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0000822,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0000822,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0000822,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0000822,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0000822,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0000822,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000822,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0000822,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0000822,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0000822,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0000822,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0000823,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0000823,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0000823,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0000823,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0000823,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0000823,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0000823,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0000823,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0000823,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000823,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0000823,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0000824,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000824,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0000824,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0000824,GARD:0022516,GARD:0008689,,Rare gastroenterologic disease +GARD:0000826,GARD:0022511,GARD:0021570,GARD:0016199,Rare bone disease +GARD:0000826,GARD:0022513,GARD:0019832,GARD:0015293,Rare developmental defect during embryogenesis +GARD:0000826,GARD:0022524,GARD:0019832,GARD:0015293,Rare neurologic disease +GARD:0000826,GARD:0022511,GARD:0021570,GARD:0015293,Rare bone disease +GARD:0000826,GARD:0022531,GARD:0021570,GARD:0016199,Rare genetic disease +GARD:0000826,GARD:0022531,GARD:0020294,GARD:0016199,Rare genetic disease +GARD:0000826,GARD:0022513,GARD:0019832,GARD:0016199,Rare developmental defect during embryogenesis +GARD:0000826,GARD:0022513,GARD:0019390,GARD:0016199,Rare developmental defect during embryogenesis +GARD:0000826,GARD:0022531,GARD:0021570,GARD:0015293,Rare genetic disease +GARD:0000826,GARD:0022531,GARD:0022441,GARD:0015293,Rare genetic disease +GARD:0000826,GARD:0022531,GARD:0020294,GARD:0015293,Rare genetic disease +GARD:0000826,GARD:0022524,GARD:0019832,GARD:0016199,Rare neurologic disease +GARD:0000826,GARD:0022513,GARD:0019390,GARD:0015293,Rare developmental defect during embryogenesis +GARD:0000826,GARD:0022513,GARD:0021570,GARD:0015293,Rare developmental defect during embryogenesis +GARD:0000826,GARD:0022531,GARD:0022441,GARD:0016199,Rare genetic disease +GARD:0000826,GARD:0022513,GARD:0021570,GARD:0016199,Rare developmental defect during embryogenesis +GARD:0000835,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000835,GARD:0022524,GARD:0009138,,Rare neurologic disease +GARD:0000835,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000835,GARD:0022531,GARD:0009138,,Rare genetic disease +GARD:0000836,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000836,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000836,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000838,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0000838,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0000838,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0000838,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0000838,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0000842,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0000842,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0000842,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0000844,GARD:0022531,GARD:0012301,,Rare genetic disease +GARD:0000844,GARD:0022524,GARD:0012301,,Rare neurologic disease +GARD:0000846,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000846,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000848,GARD:0022520,GARD:0021102,,Rare ophthalmic disorder +GARD:0000848,GARD:0022524,GARD:0020090,,Rare neurologic disease +GARD:0000848,GARD:0022520,GARD:0021101,,Rare ophthalmic disorder +GARD:0000848,GARD:0022527,GARD:0019981,,Rare circulatory system disease +GARD:0000848,GARD:0022536,GARD:0022291,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000848,GARD:0022525,GARD:0019981,,Rare systemic or rheumatologic disease +GARD:0000848,GARD:0022525,GARD:0021457,,Rare systemic or rheumatologic disease +GARD:0000848,GARD:0021079,GARD:0021461,,Rare systemic or rheumatological disease of childhood +GARD:0000848,GARD:0022512,GARD:0022291,,Rare renal disease +GARD:0000848,GARD:0022520,GARD:0021103,,Rare ophthalmic disorder +GARD:0000848,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0000853,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0000853,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0000853,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0000856,GARD:0022524,GARD:0000857,,Rare neurologic disease +GARD:0000856,GARD:0022531,GARD:0000857,,Rare genetic disease +GARD:0000857,GARD:0022524,GARD:0020076,GARD:0016506,Rare neurologic disease +GARD:0000857,GARD:0022524,GARD:0020076,GARD:0016505,Rare neurologic disease +GARD:0000857,GARD:0022524,GARD:0020076,GARD:0016521,Rare neurologic disease +GARD:0000857,GARD:0022531,GARD:0020076,GARD:0016504,Rare genetic disease +GARD:0000857,GARD:0022531,GARD:0019569,GARD:0016506,Rare genetic disease +GARD:0000857,GARD:0022524,GARD:0020087,GARD:0016506,Rare neurologic disease +GARD:0000857,GARD:0022531,GARD:0020076,GARD:0000856,Rare genetic disease +GARD:0000857,GARD:0022531,GARD:0019571,GARD:0000856,Rare genetic disease +GARD:0000857,GARD:0022531,GARD:0019571,GARD:0016504,Rare genetic disease +GARD:0000857,GARD:0022531,GARD:0019571,GARD:0016506,Rare genetic disease +GARD:0000857,GARD:0022531,GARD:0020076,GARD:0016505,Rare genetic disease +GARD:0000857,GARD:0022524,GARD:0020087,GARD:0016521,Rare neurologic disease +GARD:0000857,GARD:0022531,GARD:0020087,GARD:0016504,Rare genetic disease +GARD:0000857,GARD:0022531,GARD:0020076,GARD:0016506,Rare genetic disease +GARD:0000857,GARD:0022531,GARD:0019569,GARD:0016521,Rare genetic disease +GARD:0000857,GARD:0022524,GARD:0020087,GARD:0016504,Rare neurologic disease +GARD:0000857,GARD:0022531,GARD:0019571,GARD:0016505,Rare genetic disease +GARD:0000857,GARD:0022531,GARD:0019571,GARD:0016521,Rare genetic disease +GARD:0000857,GARD:0022524,GARD:0020087,GARD:0000856,Rare neurologic disease +GARD:0000857,GARD:0022531,GARD:0020087,GARD:0016521,Rare genetic disease +GARD:0000857,GARD:0022531,GARD:0020087,GARD:0000856,Rare genetic disease +GARD:0000857,GARD:0022524,GARD:0020076,GARD:0016504,Rare neurologic disease +GARD:0000857,GARD:0022531,GARD:0020087,GARD:0016506,Rare genetic disease +GARD:0000857,GARD:0022531,GARD:0019569,GARD:0000856,Rare genetic disease +GARD:0000857,GARD:0022531,GARD:0020076,GARD:0016521,Rare genetic disease +GARD:0000857,GARD:0022531,GARD:0019569,GARD:0016505,Rare genetic disease +GARD:0000857,GARD:0022531,GARD:0020087,GARD:0016505,Rare genetic disease +GARD:0000857,GARD:0022531,GARD:0019569,GARD:0016504,Rare genetic disease +GARD:0000857,GARD:0022524,GARD:0020087,GARD:0016505,Rare neurologic disease +GARD:0000857,GARD:0022524,GARD:0020076,GARD:0000856,Rare neurologic disease +GARD:0000860,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000860,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000860,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000860,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0000860,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0000867,GARD:0022517,GARD:0020245,,Rare respiratory disease +GARD:0000867,GARD:0022536,GARD:0020245,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000869,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0000869,GARD:0022515,GARD:0020520,,Rare cardiac disease +GARD:0000869,GARD:0022531,GARD:0019203,,Rare genetic disease +GARD:0000869,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0000869,GARD:0022508,GARD:0018977,,Rare inborn errors of metabolism +GARD:0000869,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0000869,GARD:0022531,GARD:0020520,,Rare genetic disease +GARD:0000869,GARD:0022511,GARD:0019203,,Rare bone disease +GARD:0000869,GARD:0022536,GARD:0020520,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000869,GARD:0022531,GARD:0018977,,Rare genetic disease +GARD:0000869,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0000871,GARD:0022522,GARD:0021023,GARD:0017164,Rare hematologic disease +GARD:0000871,GARD:0022521,GARD:0019289,GARD:0017164,Rare endocrine disease +GARD:0000871,GARD:0022531,GARD:0021023,GARD:0017163,Rare genetic disease +GARD:0000871,GARD:0022522,GARD:0021023,GARD:0017163,Rare hematologic disease +GARD:0000871,GARD:0022531,GARD:0021023,GARD:0017162,Rare genetic disease +GARD:0000871,GARD:0022531,GARD:0019231,GARD:0017162,Rare genetic disease +GARD:0000871,GARD:0022531,GARD:0019231,GARD:0017163,Rare genetic disease +GARD:0000871,GARD:0022536,GARD:0021023,GARD:0017163,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000871,GARD:0022521,GARD:0019289,GARD:0017162,Rare endocrine disease +GARD:0000871,GARD:0022536,GARD:0021023,GARD:0017164,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000871,GARD:0022531,GARD:0019231,GARD:0017164,Rare genetic disease +GARD:0000871,GARD:0022512,GARD:0019231,GARD:0017164,Rare renal disease +GARD:0000871,GARD:0022531,GARD:0021023,GARD:0017164,Rare genetic disease +GARD:0000871,GARD:0022512,GARD:0019231,GARD:0017163,Rare renal disease +GARD:0000871,GARD:0022536,GARD:0021023,GARD:0017162,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000871,GARD:0022522,GARD:0021023,GARD:0017162,Rare hematologic disease +GARD:0000871,GARD:0022521,GARD:0019289,GARD:0017163,Rare endocrine disease +GARD:0000871,GARD:0022512,GARD:0019231,GARD:0017162,Rare renal disease +GARD:0000872,GARD:0022531,GARD:0018960,,Rare genetic disease +GARD:0000872,GARD:0022508,GARD:0018947,,Rare inborn errors of metabolism +GARD:0000872,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0000872,GARD:0022508,GARD:0018960,,Rare inborn errors of metabolism +GARD:0000872,GARD:0022531,GARD:0018947,,Rare genetic disease +GARD:0000872,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0000873,GARD:0022524,GARD:0009138,GARD:0016121,Rare neurologic disease +GARD:0000873,GARD:0022524,GARD:0020360,GARD:0016121,Rare neurologic disease +GARD:0000873,GARD:0022531,GARD:0009138,GARD:0016121,Rare genetic disease +GARD:0000873,GARD:0022531,GARD:0020360,GARD:0016121,Rare genetic disease +GARD:0000873,GARD:0022531,GARD:0020395,GARD:0016121,Rare genetic disease +GARD:0000882,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000882,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000882,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000882,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0000884,GARD:0022507,GARD:0019965,GARD:0015044,Rare maxillo-facial surgical disease +GARD:0000884,GARD:0022528,GARD:0020000,GARD:0015044,Rare otorhinolaryngologic disease +GARD:0000884,GARD:0022528,GARD:0020000,GARD:0015142,Rare otorhinolaryngologic disease +GARD:0000884,GARD:0022507,GARD:0019965,GARD:0015142,Rare maxillo-facial surgical disease +GARD:0000884,GARD:0022531,GARD:0021810,GARD:0015142,Rare genetic disease +GARD:0000884,GARD:0022513,GARD:0020000,GARD:0015044,Rare developmental defect during embryogenesis +GARD:0000884,GARD:0022513,GARD:0019965,GARD:0015044,Rare developmental defect during embryogenesis +GARD:0000884,GARD:0022513,GARD:0019965,GARD:0015142,Rare developmental defect during embryogenesis +GARD:0000884,GARD:0022531,GARD:0021810,GARD:0015044,Rare genetic disease +GARD:0000884,GARD:0022513,GARD:0020000,GARD:0015142,Rare developmental defect during embryogenesis +GARD:0000893,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000893,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000893,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000894,GARD:0022508,GARD:0021352,,Rare inborn errors of metabolism +GARD:0000894,GARD:0022531,GARD:0003824,,Rare genetic disease +GARD:0000894,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0000894,GARD:0022510,GARD:0003824,,Rare skin disease +GARD:0000894,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0000894,GARD:0022531,GARD:0021352,,Rare genetic disease +GARD:0000894,GARD:0022508,GARD:0003824,,Rare inborn errors of metabolism +GARD:0000895,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000895,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000895,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000897,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0000897,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0000897,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000897,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0000897,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000897,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0000897,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0000897,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0000897,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000905,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0000905,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0000905,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0000905,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000905,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000905,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0000905,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0000912,GARD:0022531,GARD:0022173,,Rare genetic disease +GARD:0000912,GARD:0022513,GARD:0022092,,Rare developmental defect during embryogenesis +GARD:0000912,GARD:0022520,GARD:0022092,,Rare ophthalmic disorder +GARD:0000912,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0000912,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0000914,GARD:0022531,GARD:0019199,,Rare genetic disease +GARD:0000914,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000914,GARD:0022513,GARD:0019199,,Rare developmental defect during embryogenesis +GARD:0000914,GARD:0022511,GARD:0019199,,Rare bone disease +GARD:0000914,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000915,GARD:0022531,GARD:0020277,,Rare genetic disease +GARD:0000915,GARD:0022536,GARD:0020114,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000915,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0000915,GARD:0022523,GARD:0020114,,Rare immune disease +GARD:0000915,GARD:0022510,GARD:0019018,,Rare skin disease +GARD:0000915,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0000915,GARD:0022531,GARD:0020114,,Rare genetic disease +GARD:0000915,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0000915,GARD:0022522,GARD:0018878,,Rare hematologic disease +GARD:0000915,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0000915,GARD:0022535,GARD:0018878,,Rare neoplastic disease +GARD:0000916,GARD:0022513,GARD:0019196,GARD:0015120,Rare developmental defect during embryogenesis +GARD:0000916,GARD:0022513,GARD:0019196,GARD:0015217,Rare developmental defect during embryogenesis +GARD:0000916,GARD:0022511,GARD:0019196,GARD:0015120,Rare bone disease +GARD:0000916,GARD:0022531,GARD:0019196,GARD:0015217,Rare genetic disease +GARD:0000916,GARD:0022531,GARD:0019196,GARD:0015120,Rare genetic disease +GARD:0000916,GARD:0022511,GARD:0019196,GARD:0015217,Rare bone disease +GARD:0000917,GARD:0022531,GARD:0022105,,Rare genetic disease +GARD:0000917,GARD:0022520,GARD:0022105,,Rare ophthalmic disorder +GARD:0000917,GARD:0022520,GARD:0019537,,Rare ophthalmic disorder +GARD:0000917,GARD:0022531,GARD:0019537,,Rare genetic disease +GARD:0000918,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000918,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0000918,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0000918,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0000918,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000918,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000922,GARD:0022531,GARD:0019215,,Rare genetic disease +GARD:0000922,GARD:0022513,GARD:0019215,,Rare developmental defect during embryogenesis +GARD:0000922,GARD:0022511,GARD:0019215,,Rare bone disease +GARD:0000932,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000932,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000932,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000933,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0000933,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0000933,GARD:0022531,GARD:0019190,,Rare genetic disease +GARD:0000933,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0000936,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000936,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0000936,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0000936,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000936,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0000936,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0000936,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000936,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0000936,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0000936,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0000936,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0000938,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000938,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0000938,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000938,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0000938,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000938,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000938,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000942,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0000943,GARD:0022520,GARD:0022118,GARD:0020746,Rare ophthalmic disorder +GARD:0000943,GARD:0022509,GARD:0020044,GARD:0020597,Rare infectious disease +GARD:0000943,GARD:0022509,GARD:0020044,GARD:0020591,Rare infectious disease +GARD:0000943,GARD:0022520,GARD:0022089,GARD:0020747,Rare ophthalmic disorder +GARD:0000943,GARD:0022524,GARD:0019474,GARD:0020747,Rare neurologic disease +GARD:0000943,GARD:0022520,GARD:0022118,GARD:0020597,Rare ophthalmic disorder +GARD:0000943,GARD:0022520,GARD:0022089,GARD:0020746,Rare ophthalmic disorder +GARD:0000943,GARD:0022524,GARD:0019474,GARD:0020597,Rare neurologic disease +GARD:0000943,GARD:0022520,GARD:0022118,GARD:0020591,Rare ophthalmic disorder +GARD:0000943,GARD:0022520,GARD:0022089,GARD:0020597,Rare ophthalmic disorder +GARD:0000943,GARD:0022509,GARD:0020044,GARD:0020746,Rare infectious disease +GARD:0000943,GARD:0022520,GARD:0022089,GARD:0020591,Rare ophthalmic disorder +GARD:0000943,GARD:0022520,GARD:0022118,GARD:0020747,Rare ophthalmic disorder +GARD:0000943,GARD:0022524,GARD:0019474,GARD:0020746,Rare neurologic disease +GARD:0000943,GARD:0022509,GARD:0020044,GARD:0020747,Rare infectious disease +GARD:0000943,GARD:0022524,GARD:0019474,GARD:0020591,Rare neurologic disease +GARD:0000944,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0000944,GARD:0022531,GARD:0020219,,Rare genetic disease +GARD:0000944,GARD:0022521,GARD:0020219,,Rare endocrine disease +GARD:0000944,GARD:0022520,GARD:0022106,,Rare ophthalmic disorder +GARD:0000944,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0000944,GARD:0022529,GARD:0020219,,Rare infertility +GARD:0000944,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0000944,GARD:0022531,GARD:0022106,,Rare genetic disease +GARD:0000944,GARD:0022514,GARD:0020219,,Rare gynecologic or obstetric disease +GARD:0000944,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0000953,GARD:0022513,GARD:0021181,GARD:0015225,Rare developmental defect during embryogenesis +GARD:0000953,GARD:0022531,GARD:0019196,GARD:0015225,Rare genetic disease +GARD:0000953,GARD:0022513,GARD:0019196,GARD:0015225,Rare developmental defect during embryogenesis +GARD:0000953,GARD:0022511,GARD:0019196,GARD:0015225,Rare bone disease +GARD:0000953,GARD:0022531,GARD:0021181,GARD:0015225,Rare genetic disease +GARD:0000955,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0000955,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000955,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0000955,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000955,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0000955,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000957,GARD:0022531,GARD:0002392,,Rare genetic disease +GARD:0000957,GARD:0022511,GARD:0002392,,Rare bone disease +GARD:0000957,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0000957,GARD:0022513,GARD:0002392,,Rare developmental defect during embryogenesis +GARD:0000957,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0000958,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0000958,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000958,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000958,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000958,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0000960,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0000960,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0000960,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0000966,GARD:0022511,GARD:0019212,,Rare bone disease +GARD:0000966,GARD:0022511,GARD:0022022,,Rare bone disease +GARD:0000966,GARD:0022513,GARD:0022022,,Rare developmental defect during embryogenesis +GARD:0000966,GARD:0022531,GARD:0019212,,Rare genetic disease +GARD:0000966,GARD:0022513,GARD:0019212,,Rare developmental defect during embryogenesis +GARD:0000966,GARD:0022531,GARD:0022022,,Rare genetic disease +GARD:0000967,GARD:0022531,GARD:0020010,,Rare genetic disease +GARD:0000967,GARD:0022512,GARD:0020010,,Rare renal disease +GARD:0000967,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0000967,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0000967,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0000967,GARD:0022527,GARD:0020010,,Rare circulatory system disease +GARD:0000967,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0000968,GARD:0022513,GARD:0020573,,Rare developmental defect during embryogenesis +GARD:0000968,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0000968,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0000968,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0000968,GARD:0022531,GARD:0020573,,Rare genetic disease +GARD:0000968,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0000968,GARD:0022511,GARD:0020573,,Rare bone disease +GARD:0000968,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0000971,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0000971,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0000971,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0000971,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0000971,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0000972,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0000972,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0000972,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0000978,GARD:0022511,GARD:0022022,GARD:0015903,Rare bone disease +GARD:0000978,GARD:0022513,GARD:0022022,GARD:0016164,Rare developmental defect during embryogenesis +GARD:0000978,GARD:0022513,GARD:0022022,GARD:0015903,Rare developmental defect during embryogenesis +GARD:0000978,GARD:0022511,GARD:0022022,GARD:0015407,Rare bone disease +GARD:0000978,GARD:0022513,GARD:0022022,GARD:0015407,Rare developmental defect during embryogenesis +GARD:0000978,GARD:0022531,GARD:0022022,GARD:0015903,Rare genetic disease +GARD:0000978,GARD:0022511,GARD:0022022,GARD:0016164,Rare bone disease +GARD:0000978,GARD:0022531,GARD:0022022,GARD:0016164,Rare genetic disease +GARD:0000978,GARD:0022531,GARD:0022022,GARD:0015407,Rare genetic disease +GARD:0000979,GARD:0022513,GARD:0022022,,Rare developmental defect during embryogenesis +GARD:0000979,GARD:0022531,GARD:0022022,,Rare genetic disease +GARD:0000979,GARD:0022511,GARD:0022022,,Rare bone disease +GARD:0000983,GARD:0022513,GARD:0000006,,Rare developmental defect during embryogenesis +GARD:0000983,GARD:0022511,GARD:0022022,,Rare bone disease +GARD:0000983,GARD:0022531,GARD:0000006,,Rare genetic disease +GARD:0000983,GARD:0022531,GARD:0022022,,Rare genetic disease +GARD:0000983,GARD:0022511,GARD:0000006,,Rare bone disease +GARD:0000983,GARD:0022513,GARD:0022022,,Rare developmental defect during embryogenesis +GARD:0000984,GARD:0022513,GARD:0022022,,Rare developmental defect during embryogenesis +GARD:0000984,GARD:0022531,GARD:0022022,,Rare genetic disease +GARD:0000984,GARD:0022511,GARD:0022022,,Rare bone disease +GARD:0000985,GARD:0022531,GARD:0022022,GARD:0018009,Rare genetic disease +GARD:0000985,GARD:0022531,GARD:0022022,GARD:0016963,Rare genetic disease +GARD:0000985,GARD:0022511,GARD:0022022,GARD:0016963,Rare bone disease +GARD:0000985,GARD:0022511,GARD:0022022,GARD:0018009,Rare bone disease +GARD:0000985,GARD:0022513,GARD:0022022,GARD:0016963,Rare developmental defect during embryogenesis +GARD:0000985,GARD:0022513,GARD:0022022,GARD:0018009,Rare developmental defect during embryogenesis +GARD:0000986,GARD:0022531,GARD:0022022,,Rare genetic disease +GARD:0000986,GARD:0022511,GARD:0022022,,Rare bone disease +GARD:0000986,GARD:0022513,GARD:0022022,,Rare developmental defect during embryogenesis +GARD:0000987,GARD:0022511,GARD:0022022,GARD:0015654,Rare bone disease +GARD:0000987,GARD:0022513,GARD:0022022,GARD:0015654,Rare developmental defect during embryogenesis +GARD:0000987,GARD:0022531,GARD:0022022,GARD:0015654,Rare genetic disease +GARD:0000990,GARD:0022511,GARD:0022022,,Rare bone disease +GARD:0000990,GARD:0022513,GARD:0022022,,Rare developmental defect during embryogenesis +GARD:0000990,GARD:0022531,GARD:0022022,,Rare genetic disease +GARD:0000992,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0000992,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0000992,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0000992,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0000992,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0000994,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0000994,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0000994,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0000994,GARD:0022531,GARD:0021577,,Rare genetic disease +GARD:0000995,GARD:0022531,GARD:0013171,,Rare genetic disease +GARD:0000995,GARD:0022511,GARD:0013171,,Rare bone disease +GARD:0000995,GARD:0022513,GARD:0013171,,Rare developmental defect during embryogenesis +GARD:0000998,GARD:0022513,GARD:0020113,,Rare developmental defect during embryogenesis +GARD:0000998,GARD:0022524,GARD:0021002,,Rare neurologic disease +GARD:0000998,GARD:0022531,GARD:0021009,,Rare genetic disease +GARD:0000998,GARD:0022531,GARD:0020113,,Rare genetic disease +GARD:0000998,GARD:0022511,GARD:0020113,,Rare bone disease +GARD:0000998,GARD:0022513,GARD:0021002,,Rare developmental defect during embryogenesis +GARD:0001002,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001002,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0001002,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0001002,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001002,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0001002,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001002,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0001002,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0001017,GARD:0022513,GARD:0019201,GARD:0008695,Rare developmental defect during embryogenesis +GARD:0001017,GARD:0022513,GARD:0019201,GARD:0008696,Rare developmental defect during embryogenesis +GARD:0001017,GARD:0022513,GARD:0019201,GARD:0008699,Rare developmental defect during embryogenesis +GARD:0001017,GARD:0022531,GARD:0019201,GARD:0008694,Rare genetic disease +GARD:0001017,GARD:0022511,GARD:0019201,GARD:0008696,Rare bone disease +GARD:0001017,GARD:0022511,GARD:0019201,GARD:0008699,Rare bone disease +GARD:0001017,GARD:0022531,GARD:0019201,GARD:0008696,Rare genetic disease +GARD:0001017,GARD:0022531,GARD:0019201,GARD:0010142,Rare genetic disease +GARD:0001017,GARD:0022511,GARD:0019201,GARD:0008694,Rare bone disease +GARD:0001017,GARD:0022531,GARD:0019201,GARD:0008695,Rare genetic disease +GARD:0001017,GARD:0022511,GARD:0019201,GARD:0010142,Rare bone disease +GARD:0001017,GARD:0022513,GARD:0019201,GARD:0010142,Rare developmental defect during embryogenesis +GARD:0001017,GARD:0022531,GARD:0019201,GARD:0008699,Rare genetic disease +GARD:0001017,GARD:0022513,GARD:0019201,GARD:0008694,Rare developmental defect during embryogenesis +GARD:0001017,GARD:0022511,GARD:0019201,GARD:0008695,Rare bone disease +GARD:0001019,GARD:0022525,GARD:0006322,GARD:0015764,Rare systemic or rheumatologic disease +GARD:0001019,GARD:0022531,GARD:0019521,GARD:0015764,Rare genetic disease +GARD:0001019,GARD:0022513,GARD:0006322,GARD:0015764,Rare developmental defect during embryogenesis +GARD:0001019,GARD:0022510,GARD:0006322,GARD:0015764,Rare skin disease +GARD:0001019,GARD:0022520,GARD:0019521,GARD:0015764,Rare ophthalmic disorder +GARD:0001019,GARD:0022531,GARD:0006322,GARD:0015764,Rare genetic disease +GARD:0001025,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0001025,GARD:0022513,GARD:0019867,,Rare developmental defect during embryogenesis +GARD:0001025,GARD:0022518,GARD:0019867,,Rare surgical thoracic disease +GARD:0001029,GARD:0022526,GARD:0020095,GARD:0010023,Rare odontologic disease +GARD:0001029,GARD:0022513,GARD:0019201,GARD:0010023,Rare developmental defect during embryogenesis +GARD:0001029,GARD:0022531,GARD:0019201,GARD:0010023,Rare genetic disease +GARD:0001029,GARD:0022531,GARD:0020095,GARD:0010023,Rare genetic disease +GARD:0001029,GARD:0022511,GARD:0019201,GARD:0010023,Rare bone disease +GARD:0001030,GARD:0022515,GARD:0019785,GARD:0015584,Rare cardiac disease +GARD:0001030,GARD:0022531,GARD:0019785,GARD:0015619,Rare genetic disease +GARD:0001030,GARD:0022515,GARD:0019785,GARD:0010362,Rare cardiac disease +GARD:0001030,GARD:0022531,GARD:0019785,GARD:0015526,Rare genetic disease +GARD:0001030,GARD:0022515,GARD:0019785,GARD:0015619,Rare cardiac disease +GARD:0001030,GARD:0022515,GARD:0019785,GARD:0015526,Rare cardiac disease +GARD:0001030,GARD:0022515,GARD:0019785,GARD:0010361,Rare cardiac disease +GARD:0001030,GARD:0022515,GARD:0019785,GARD:0015620,Rare cardiac disease +GARD:0001030,GARD:0022531,GARD:0019785,GARD:0015622,Rare genetic disease +GARD:0001030,GARD:0022515,GARD:0019785,GARD:0015622,Rare cardiac disease +GARD:0001030,GARD:0022531,GARD:0019785,GARD:0016104,Rare genetic disease +GARD:0001030,GARD:0022515,GARD:0019785,GARD:0016104,Rare cardiac disease +GARD:0001030,GARD:0022531,GARD:0019785,GARD:0015620,Rare genetic disease +GARD:0001030,GARD:0022531,GARD:0019785,GARD:0015584,Rare genetic disease +GARD:0001030,GARD:0022531,GARD:0019785,GARD:0010361,Rare genetic disease +GARD:0001030,GARD:0022531,GARD:0019785,GARD:0010362,Rare genetic disease +GARD:0001033,GARD:0022523,GARD:0017155,GARD:0010007,Rare immune disease +GARD:0001033,GARD:0022531,GARD:0017155,GARD:0010007,Rare genetic disease +GARD:0001037,GARD:0022524,GARD:0019815,,Rare neurologic disease +GARD:0001037,GARD:0022531,GARD:0020285,,Rare genetic disease +GARD:0001038,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0001038,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0001038,GARD:0022531,GARD:0018991,,Rare genetic disease +GARD:0001038,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0001039,GARD:0022510,GARD:0021107,GARD:0015417,Rare skin disease +GARD:0001039,GARD:0022531,GARD:0021107,GARD:0015417,Rare genetic disease +GARD:0001044,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0001044,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0001044,GARD:0022531,GARD:0020574,,Rare genetic disease +GARD:0001044,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001044,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0001044,GARD:0022510,GARD:0020574,,Rare skin disease +GARD:0001049,GARD:0022524,GARD:0021960,,Rare neurologic disease +GARD:0001049,GARD:0022524,GARD:0019492,,Rare neurologic disease +GARD:0001049,GARD:0022531,GARD:0022184,,Rare genetic disease +GARD:0001049,GARD:0022531,GARD:0021960,,Rare genetic disease +GARD:0001049,GARD:0022531,GARD:0019492,,Rare genetic disease +GARD:0001049,GARD:0022520,GARD:0022104,,Rare ophthalmic disorder +GARD:0001051,GARD:0022513,GARD:0019199,,Rare developmental defect during embryogenesis +GARD:0001051,GARD:0022531,GARD:0019199,,Rare genetic disease +GARD:0001051,GARD:0022511,GARD:0019199,,Rare bone disease +GARD:0001052,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0001052,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0001052,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0001052,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0001052,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0001052,GARD:0022510,GARD:0018996,,Rare skin disease +GARD:0001052,GARD:0022531,GARD:0018996,,Rare genetic disease +GARD:0001052,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0001052,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0001053,GARD:0022512,GARD:0009748,,Rare renal disease +GARD:0001053,GARD:0022525,GARD:0009748,,Rare systemic or rheumatologic disease +GARD:0001053,GARD:0022510,GARD:0009748,,Rare skin disease +GARD:0001053,GARD:0022517,GARD:0009748,,Rare respiratory disease +GARD:0001053,GARD:0021079,GARD:0009748,,Rare systemic or rheumatological disease of childhood +GARD:0001053,GARD:0022536,GARD:0009748,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001053,GARD:0022515,GARD:0009748,,Rare cardiac disease +GARD:0001057,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0001057,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0001057,GARD:0022531,GARD:0020399,,Rare genetic disease +GARD:0001058,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0001058,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0001058,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0001061,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001061,GARD:0022511,GARD:0019196,,Rare bone disease +GARD:0001061,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001061,GARD:0022531,GARD:0019196,,Rare genetic disease +GARD:0001061,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001061,GARD:0022513,GARD:0019196,,Rare developmental defect during embryogenesis +GARD:0001062,GARD:0022511,GARD:0022022,,Rare bone disease +GARD:0001062,GARD:0022531,GARD:0022022,,Rare genetic disease +GARD:0001062,GARD:0022513,GARD:0022022,,Rare developmental defect during embryogenesis +GARD:0001063,GARD:0022524,GARD:0020359,,Rare neurologic disease +GARD:0001064,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001064,GARD:0022511,GARD:0021572,,Rare bone disease +GARD:0001064,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001064,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001064,GARD:0022513,GARD:0021572,,Rare developmental defect during embryogenesis +GARD:0001067,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0001067,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0001068,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0001068,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0001068,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0001068,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0001068,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0001069,GARD:0022513,GARD:0019871,,Rare developmental defect during embryogenesis +GARD:0001069,GARD:0022531,GARD:0021728,,Rare genetic disease +GARD:0001071,GARD:0022531,GARD:0010027,,Rare genetic disease +GARD:0001071,GARD:0022511,GARD:0010027,,Rare bone disease +GARD:0001071,GARD:0022532,GARD:0010027,,Rare urogenital disease +GARD:0001071,GARD:0022521,GARD:0010027,,Rare endocrine disease +GARD:0001071,GARD:0022524,GARD:0010027,,Rare neurologic disease +GARD:0001071,GARD:0022513,GARD:0010027,,Rare developmental defect during embryogenesis +GARD:0001071,GARD:0022514,GARD:0010027,,Rare gynecologic or obstetric disease +GARD:0001072,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0001072,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0001072,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0001077,GARD:0022531,GARD:0020278,GARD:0016114,Rare genetic disease +GARD:0001077,GARD:0022531,GARD:0020278,GARD:0015981,Rare genetic disease +GARD:0001077,GARD:0022531,GARD:0020278,GARD:0015203,Rare genetic disease +GARD:0001077,GARD:0022510,GARD:0019019,GARD:0016114,Rare skin disease +GARD:0001077,GARD:0022523,GARD:0020322,GARD:0015203,Rare immune disease +GARD:0001077,GARD:0022523,GARD:0020322,GARD:0015194,Rare immune disease +GARD:0001077,GARD:0022531,GARD:0020278,GARD:0015418,Rare genetic disease +GARD:0001077,GARD:0022510,GARD:0019019,GARD:0015418,Rare skin disease +GARD:0001077,GARD:0022531,GARD:0020278,GARD:0015617,Rare genetic disease +GARD:0001077,GARD:0022510,GARD:0019019,GARD:0015732,Rare skin disease +GARD:0001077,GARD:0022523,GARD:0020322,GARD:0016114,Rare immune disease +GARD:0001077,GARD:0022523,GARD:0020322,GARD:0015732,Rare immune disease +GARD:0001077,GARD:0022510,GARD:0019019,GARD:0015093,Rare skin disease +GARD:0001077,GARD:0022510,GARD:0019019,GARD:0015981,Rare skin disease +GARD:0001077,GARD:0022523,GARD:0020322,GARD:0015418,Rare immune disease +GARD:0001077,GARD:0022531,GARD:0020322,GARD:0015203,Rare genetic disease +GARD:0001077,GARD:0022531,GARD:0020278,GARD:0015194,Rare genetic disease +GARD:0001077,GARD:0022523,GARD:0020322,GARD:0015981,Rare immune disease +GARD:0001077,GARD:0022510,GARD:0019019,GARD:0015617,Rare skin disease +GARD:0001077,GARD:0022531,GARD:0020278,GARD:0015093,Rare genetic disease +GARD:0001077,GARD:0022531,GARD:0020322,GARD:0015418,Rare genetic disease +GARD:0001077,GARD:0022523,GARD:0020322,GARD:0015617,Rare immune disease +GARD:0001077,GARD:0022510,GARD:0019019,GARD:0015203,Rare skin disease +GARD:0001077,GARD:0022531,GARD:0020278,GARD:0015732,Rare genetic disease +GARD:0001077,GARD:0022510,GARD:0019019,GARD:0015194,Rare skin disease +GARD:0001077,GARD:0022531,GARD:0020322,GARD:0015617,Rare genetic disease +GARD:0001077,GARD:0022531,GARD:0020322,GARD:0015194,Rare genetic disease +GARD:0001077,GARD:0022531,GARD:0020322,GARD:0016114,Rare genetic disease +GARD:0001077,GARD:0022531,GARD:0020322,GARD:0015981,Rare genetic disease +GARD:0001077,GARD:0022531,GARD:0020322,GARD:0015093,Rare genetic disease +GARD:0001077,GARD:0022531,GARD:0020322,GARD:0015732,Rare genetic disease +GARD:0001077,GARD:0022523,GARD:0020322,GARD:0015093,Rare immune disease +GARD:0001078,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001078,GARD:0022531,GARD:0020233,,Rare genetic disease +GARD:0001078,GARD:0022529,GARD:0020233,,Rare infertility +GARD:0001078,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001078,GARD:0022521,GARD:0020233,,Rare endocrine disease +GARD:0001078,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001084,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0001093,GARD:0022515,GARD:0010005,,Rare cardiac disease +GARD:0001093,GARD:0022531,GARD:0010005,,Rare genetic disease +GARD:0001094,GARD:0022513,GARD:0019094,,Rare developmental defect during embryogenesis +GARD:0001094,GARD:0022519,GARD:0019094,,Rare surgical cardiac disease +GARD:0001096,GARD:0022513,GARD:0019554,,Rare developmental defect during embryogenesis +GARD:0001096,GARD:0022531,GARD:0021969,,Rare genetic disease +GARD:0001096,GARD:0022519,GARD:0019554,,Rare surgical cardiac disease +GARD:0001100,GARD:0022531,GARD:0019561,GARD:0015518,Rare genetic disease +GARD:0001100,GARD:0022513,GARD:0019145,GARD:0015694,Rare developmental defect during embryogenesis +GARD:0001100,GARD:0022531,GARD:0019904,GARD:0015694,Rare genetic disease +GARD:0001100,GARD:0022531,GARD:0020259,GARD:0015694,Rare genetic disease +GARD:0001100,GARD:0022531,GARD:0020259,GARD:0015518,Rare genetic disease +GARD:0001100,GARD:0022531,GARD:0022461,GARD:0015518,Rare genetic disease +GARD:0001100,GARD:0022535,GARD:0020259,GARD:0015518,Rare neoplastic disease +GARD:0001100,GARD:0022531,GARD:0021507,GARD:0015518,Rare genetic disease +GARD:0001100,GARD:0022519,GARD:0019561,GARD:0015518,Rare surgical cardiac disease +GARD:0001100,GARD:0022519,GARD:0019561,GARD:0015694,Rare surgical cardiac disease +GARD:0001100,GARD:0022513,GARD:0019145,GARD:0015518,Rare developmental defect during embryogenesis +GARD:0001100,GARD:0022513,GARD:0019904,GARD:0015694,Rare developmental defect during embryogenesis +GARD:0001100,GARD:0022513,GARD:0019431,GARD:0015694,Rare developmental defect during embryogenesis +GARD:0001100,GARD:0022513,GARD:0019561,GARD:0015518,Rare developmental defect during embryogenesis +GARD:0001100,GARD:0022535,GARD:0022461,GARD:0015518,Rare neoplastic disease +GARD:0001100,GARD:0022515,GARD:0020523,GARD:0015518,Rare cardiac disease +GARD:0001100,GARD:0022531,GARD:0019145,GARD:0015518,Rare genetic disease +GARD:0001100,GARD:0022513,GARD:0019833,GARD:0015518,Rare developmental defect during embryogenesis +GARD:0001100,GARD:0022528,GARD:0019145,GARD:0015694,Rare otorhinolaryngologic disease +GARD:0001100,GARD:0022531,GARD:0019561,GARD:0015694,Rare genetic disease +GARD:0001100,GARD:0022535,GARD:0020259,GARD:0015694,Rare neoplastic disease +GARD:0001100,GARD:0022513,GARD:0019833,GARD:0015694,Rare developmental defect during embryogenesis +GARD:0001100,GARD:0022513,GARD:0019561,GARD:0015694,Rare developmental defect during embryogenesis +GARD:0001100,GARD:0022515,GARD:0020523,GARD:0015694,Rare cardiac disease +GARD:0001100,GARD:0022510,GARD:0019004,GARD:0015518,Rare skin disease +GARD:0001100,GARD:0022531,GARD:0020270,GARD:0015694,Rare genetic disease +GARD:0001100,GARD:0022528,GARD:0019145,GARD:0015518,Rare otorhinolaryngologic disease +GARD:0001100,GARD:0022531,GARD:0022461,GARD:0015694,Rare genetic disease +GARD:0001100,GARD:0022510,GARD:0019004,GARD:0015694,Rare skin disease +GARD:0001100,GARD:0022535,GARD:0022461,GARD:0015694,Rare neoplastic disease +GARD:0001100,GARD:0022531,GARD:0020523,GARD:0015694,Rare genetic disease +GARD:0001100,GARD:0022536,GARD:0020523,GARD:0015694,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001100,GARD:0022513,GARD:0019904,GARD:0015518,Rare developmental defect during embryogenesis +GARD:0001100,GARD:0022531,GARD:0020523,GARD:0015518,Rare genetic disease +GARD:0001100,GARD:0022531,GARD:0019904,GARD:0015518,Rare genetic disease +GARD:0001100,GARD:0022531,GARD:0020270,GARD:0015518,Rare genetic disease +GARD:0001100,GARD:0022531,GARD:0019431,GARD:0015518,Rare genetic disease +GARD:0001100,GARD:0022513,GARD:0019431,GARD:0015518,Rare developmental defect during embryogenesis +GARD:0001100,GARD:0022531,GARD:0019431,GARD:0015694,Rare genetic disease +GARD:0001100,GARD:0022531,GARD:0021507,GARD:0015694,Rare genetic disease +GARD:0001100,GARD:0022531,GARD:0019145,GARD:0015694,Rare genetic disease +GARD:0001100,GARD:0022536,GARD:0020523,GARD:0015518,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001102,GARD:0022536,GARD:0020529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001102,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0001102,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0001102,GARD:0022515,GARD:0020529,,Rare cardiac disease +GARD:0001102,GARD:0022531,GARD:0020529,,Rare genetic disease +GARD:0001104,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0001104,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001104,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0001118,GARD:0022524,GARD:0019832,GARD:0018428,Rare neurologic disease +GARD:0001118,GARD:0022531,GARD:0019911,GARD:0004049,Rare genetic disease +GARD:0001118,GARD:0022531,GARD:0022441,GARD:0004049,Rare genetic disease +GARD:0001118,GARD:0022513,GARD:0019911,GARD:0004049,Rare developmental defect during embryogenesis +GARD:0001118,GARD:0022531,GARD:0019911,GARD:0018428,Rare genetic disease +GARD:0001118,GARD:0022531,GARD:0019911,GARD:0008531,Rare genetic disease +GARD:0001118,GARD:0022524,GARD:0019832,GARD:0008531,Rare neurologic disease +GARD:0001118,GARD:0022524,GARD:0019832,GARD:0004049,Rare neurologic disease +GARD:0001118,GARD:0022531,GARD:0022441,GARD:0008531,Rare genetic disease +GARD:0001118,GARD:0022511,GARD:0019911,GARD:0004049,Rare bone disease +GARD:0001118,GARD:0022513,GARD:0019832,GARD:0008531,Rare developmental defect during embryogenesis +GARD:0001118,GARD:0022513,GARD:0019832,GARD:0004049,Rare developmental defect during embryogenesis +GARD:0001118,GARD:0022511,GARD:0019911,GARD:0018428,Rare bone disease +GARD:0001118,GARD:0022531,GARD:0022441,GARD:0018428,Rare genetic disease +GARD:0001118,GARD:0022513,GARD:0019911,GARD:0008531,Rare developmental defect during embryogenesis +GARD:0001118,GARD:0022511,GARD:0019911,GARD:0008531,Rare bone disease +GARD:0001118,GARD:0022513,GARD:0019911,GARD:0018428,Rare developmental defect during embryogenesis +GARD:0001118,GARD:0022513,GARD:0019832,GARD:0018428,Rare developmental defect during embryogenesis +GARD:0001119,GARD:0022535,GARD:0020097,GARD:0015090,Rare neoplastic disease +GARD:0001119,GARD:0022535,GARD:0019766,GARD:0015090,Rare neoplastic disease +GARD:0001119,GARD:0022515,GARD:0020097,GARD:0015090,Rare cardiac disease +GARD:0001119,GARD:0022535,GARD:0019765,GARD:0015090,Rare neoplastic disease +GARD:0001119,GARD:0022535,GARD:0019765,GARD:0015377,Rare neoplastic disease +GARD:0001119,GARD:0022521,GARD:0021388,GARD:0015090,Rare endocrine disease +GARD:0001119,GARD:0022521,GARD:0019765,GARD:0015090,Rare endocrine disease +GARD:0001119,GARD:0022531,GARD:0019766,GARD:0015377,Rare genetic disease +GARD:0001119,GARD:0022515,GARD:0020097,GARD:0015377,Rare cardiac disease +GARD:0001119,GARD:0022531,GARD:0021013,GARD:0015090,Rare genetic disease +GARD:0001119,GARD:0022510,GARD:0019004,GARD:0015090,Rare skin disease +GARD:0001119,GARD:0022535,GARD:0020097,GARD:0015377,Rare neoplastic disease +GARD:0001119,GARD:0022531,GARD:0020270,GARD:0015090,Rare genetic disease +GARD:0001119,GARD:0022531,GARD:0019766,GARD:0015090,Rare genetic disease +GARD:0001119,GARD:0022531,GARD:0020270,GARD:0015377,Rare genetic disease +GARD:0001119,GARD:0022521,GARD:0019766,GARD:0015090,Rare endocrine disease +GARD:0001119,GARD:0022521,GARD:0021388,GARD:0015377,Rare endocrine disease +GARD:0001119,GARD:0022535,GARD:0019766,GARD:0015377,Rare neoplastic disease +GARD:0001119,GARD:0022510,GARD:0019004,GARD:0015377,Rare skin disease +GARD:0001119,GARD:0022521,GARD:0019765,GARD:0015377,Rare endocrine disease +GARD:0001119,GARD:0022521,GARD:0019766,GARD:0015377,Rare endocrine disease +GARD:0001119,GARD:0022531,GARD:0021013,GARD:0015377,Rare genetic disease +GARD:0001120,GARD:0022531,GARD:0021320,,Rare genetic disease +GARD:0001120,GARD:0022508,GARD:0021320,,Rare inborn errors of metabolism +GARD:0001121,GARD:0022524,GARD:0020369,GARD:0017149,Rare neurologic disease +GARD:0001121,GARD:0022524,GARD:0020369,GARD:0017151,Rare neurologic disease +GARD:0001121,GARD:0022531,GARD:0021320,GARD:0017151,Rare genetic disease +GARD:0001121,GARD:0022508,GARD:0021320,GARD:0017149,Rare inborn errors of metabolism +GARD:0001121,GARD:0022508,GARD:0021320,GARD:0017151,Rare inborn errors of metabolism +GARD:0001121,GARD:0022531,GARD:0020369,GARD:0017151,Rare genetic disease +GARD:0001121,GARD:0022531,GARD:0020369,GARD:0017149,Rare genetic disease +GARD:0001121,GARD:0022531,GARD:0021320,GARD:0017150,Rare genetic disease +GARD:0001121,GARD:0022524,GARD:0020369,GARD:0017150,Rare neurologic disease +GARD:0001121,GARD:0022531,GARD:0021320,GARD:0017149,Rare genetic disease +GARD:0001121,GARD:0022508,GARD:0021320,GARD:0017150,Rare inborn errors of metabolism +GARD:0001121,GARD:0022531,GARD:0020369,GARD:0017150,Rare genetic disease +GARD:0001123,GARD:0022515,GARD:0020522,,Rare cardiac disease +GARD:0001123,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0001123,GARD:0022508,GARD:0021320,,Rare inborn errors of metabolism +GARD:0001123,GARD:0022531,GARD:0021320,,Rare genetic disease +GARD:0001123,GARD:0022536,GARD:0020522,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001123,GARD:0022531,GARD:0020522,,Rare genetic disease +GARD:0001123,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0001128,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0001128,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0001128,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0001130,GARD:0022530,GARD:0019398,,Rare allergic disease +GARD:0001130,GARD:0022517,GARD:0020246,,Rare respiratory disease +GARD:0001130,GARD:0022536,GARD:0020246,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001133,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001133,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001133,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001139,GARD:0022510,GARD:0021293,,Rare skin disease +GARD:0001139,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0001139,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0001139,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0001139,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0001139,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0001139,GARD:0022531,GARD:0021293,,Rare genetic disease +GARD:0001140,GARD:0022520,GARD:0016888,GARD:0015327,Rare ophthalmic disorder +GARD:0001140,GARD:0022531,GARD:0016888,GARD:0015327,Rare genetic disease +GARD:0001140,GARD:0022513,GARD:0016888,GARD:0015327,Rare developmental defect during embryogenesis +GARD:0001141,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0001141,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0001141,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0001141,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0001141,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0001141,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0001141,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0001142,GARD:0022515,GARD:0020521,GARD:0015961,Rare cardiac disease +GARD:0001142,GARD:0022520,GARD:0019527,GARD:0015961,Rare ophthalmic disorder +GARD:0001142,GARD:0022531,GARD:0020521,GARD:0015961,Rare genetic disease +GARD:0001142,GARD:0022508,GARD:0021519,GARD:0015961,Rare inborn errors of metabolism +GARD:0001142,GARD:0022531,GARD:0022157,GARD:0015961,Rare genetic disease +GARD:0001142,GARD:0022531,GARD:0022170,GARD:0015961,Rare genetic disease +GARD:0001142,GARD:0022531,GARD:0020762,GARD:0015961,Rare genetic disease +GARD:0001142,GARD:0022508,GARD:0020762,GARD:0015961,Rare inborn errors of metabolism +GARD:0001142,GARD:0022531,GARD:0021519,GARD:0015961,Rare genetic disease +GARD:0001142,GARD:0022536,GARD:0020521,GARD:0015961,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001142,GARD:0022520,GARD:0019542,GARD:0015961,Rare ophthalmic disorder +GARD:0001144,GARD:0022531,GARD:0001155,,Rare genetic disease +GARD:0001144,GARD:0022520,GARD:0001155,,Rare ophthalmic disorder +GARD:0001155,GARD:0022531,GARD:0022170,GARD:0001144,Rare genetic disease +GARD:0001155,GARD:0022520,GARD:0019527,GARD:0015335,Rare ophthalmic disorder +GARD:0001155,GARD:0022520,GARD:0019527,GARD:0015364,Rare ophthalmic disorder +GARD:0001155,GARD:0022531,GARD:0022170,GARD:0015047,Rare genetic disease +GARD:0001155,GARD:0022520,GARD:0019527,GARD:0015047,Rare ophthalmic disorder +GARD:0001155,GARD:0022531,GARD:0022170,GARD:0015335,Rare genetic disease +GARD:0001155,GARD:0022520,GARD:0019527,GARD:0001144,Rare ophthalmic disorder +GARD:0001155,GARD:0022531,GARD:0022170,GARD:0015364,Rare genetic disease +GARD:0001159,GARD:0022520,GARD:0016801,GARD:0016127,Rare ophthalmic disorder +GARD:0001159,GARD:0022531,GARD:0016801,GARD:0016350,Rare genetic disease +GARD:0001159,GARD:0022520,GARD:0016801,GARD:0016350,Rare ophthalmic disorder +GARD:0001159,GARD:0022513,GARD:0016801,GARD:0016350,Rare developmental defect during embryogenesis +GARD:0001159,GARD:0022531,GARD:0016801,GARD:0015335,Rare genetic disease +GARD:0001159,GARD:0022531,GARD:0016801,GARD:0016127,Rare genetic disease +GARD:0001159,GARD:0022520,GARD:0016801,GARD:0015335,Rare ophthalmic disorder +GARD:0001159,GARD:0022513,GARD:0016801,GARD:0015335,Rare developmental defect during embryogenesis +GARD:0001159,GARD:0022513,GARD:0016801,GARD:0016127,Rare developmental defect during embryogenesis +GARD:0001160,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0001160,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0001163,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0001163,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0001163,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001163,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001163,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001163,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0001164,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0001164,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0001164,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0001164,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0001164,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001164,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0001167,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001167,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001167,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0001167,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0001167,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001167,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0001167,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0001188,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0001188,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0001188,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0001188,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0001188,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0001188,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0001188,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0001189,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0001189,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0001189,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0001191,GARD:0022531,GARD:0018890,GARD:0015215,Rare genetic disease +GARD:0001191,GARD:0022524,GARD:0018890,GARD:0015215,Rare neurologic disease +GARD:0001191,GARD:0022531,GARD:0018890,GARD:0016183,Rare genetic disease +GARD:0001191,GARD:0022531,GARD:0004503,GARD:0015215,Rare genetic disease +GARD:0001191,GARD:0022520,GARD:0004503,GARD:0016183,Rare ophthalmic disorder +GARD:0001191,GARD:0022508,GARD:0020758,GARD:0015215,Rare inborn errors of metabolism +GARD:0001191,GARD:0022531,GARD:0004503,GARD:0016183,Rare genetic disease +GARD:0001191,GARD:0022531,GARD:0020758,GARD:0015215,Rare genetic disease +GARD:0001191,GARD:0022531,GARD:0020758,GARD:0016183,Rare genetic disease +GARD:0001191,GARD:0022520,GARD:0004503,GARD:0015215,Rare ophthalmic disorder +GARD:0001191,GARD:0022508,GARD:0020758,GARD:0016183,Rare inborn errors of metabolism +GARD:0001191,GARD:0022524,GARD:0018890,GARD:0016183,Rare neurologic disease +GARD:0001195,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0001195,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0001195,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0001195,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0001195,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0001195,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0001196,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0001196,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0001196,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0001196,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0001199,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0001199,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0001199,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0001199,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0001199,GARD:0022524,GARD:0019412,,Rare neurologic disease +GARD:0001199,GARD:0022531,GARD:0019412,,Rare genetic disease +GARD:0001200,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0001200,GARD:0022524,GARD:0020997,,Rare neurologic disease +GARD:0001200,GARD:0022513,GARD:0020997,,Rare developmental defect during embryogenesis +GARD:0001200,GARD:0022531,GARD:0021006,,Rare genetic disease +GARD:0001210,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0001210,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001210,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001210,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001210,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0001210,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0001217,GARD:0022525,GARD:0021957,,Rare systemic or rheumatologic disease +GARD:0001217,GARD:0022524,GARD:0021960,,Rare neurologic disease +GARD:0001217,GARD:0022531,GARD:0021960,,Rare genetic disease +GARD:0001217,GARD:0022531,GARD:0022184,,Rare genetic disease +GARD:0001217,GARD:0022531,GARD:0021957,,Rare genetic disease +GARD:0001217,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0001217,GARD:0022520,GARD:0022104,,Rare ophthalmic disorder +GARD:0001218,GARD:0022524,GARD:0004938,,Rare neurologic disease +GARD:0001218,GARD:0022520,GARD:0010973,,Rare ophthalmic disorder +GARD:0001218,GARD:0022508,GARD:0010973,,Rare inborn errors of metabolism +GARD:0001218,GARD:0022508,GARD:0017032,,Rare inborn errors of metabolism +GARD:0001218,GARD:0022524,GARD:0017031,,Rare neurologic disease +GARD:0001218,GARD:0022508,GARD:0004938,,Rare inborn errors of metabolism +GARD:0001218,GARD:0022531,GARD:0010973,,Rare genetic disease +GARD:0001218,GARD:0022520,GARD:0004938,,Rare ophthalmic disorder +GARD:0001218,GARD:0022531,GARD:0017032,,Rare genetic disease +GARD:0001218,GARD:0022520,GARD:0017032,,Rare ophthalmic disorder +GARD:0001218,GARD:0022508,GARD:0017031,,Rare inborn errors of metabolism +GARD:0001218,GARD:0022524,GARD:0010973,,Rare neurologic disease +GARD:0001218,GARD:0022531,GARD:0004938,,Rare genetic disease +GARD:0001218,GARD:0022531,GARD:0017031,,Rare genetic disease +GARD:0001218,GARD:0022524,GARD:0017032,,Rare neurologic disease +GARD:0001218,GARD:0022520,GARD:0017031,,Rare ophthalmic disorder +GARD:0001219,GARD:0022524,GARD:0004938,,Rare neurologic disease +GARD:0001219,GARD:0022520,GARD:0017032,,Rare ophthalmic disorder +GARD:0001219,GARD:0022531,GARD:0004938,,Rare genetic disease +GARD:0001219,GARD:0022508,GARD:0004938,,Rare inborn errors of metabolism +GARD:0001219,GARD:0022520,GARD:0009447,,Rare ophthalmic disorder +GARD:0001219,GARD:0022524,GARD:0009447,,Rare neurologic disease +GARD:0001219,GARD:0022520,GARD:0004938,,Rare ophthalmic disorder +GARD:0001219,GARD:0022531,GARD:0010973,,Rare genetic disease +GARD:0001219,GARD:0022524,GARD:0017032,,Rare neurologic disease +GARD:0001219,GARD:0022531,GARD:0017032,,Rare genetic disease +GARD:0001219,GARD:0022531,GARD:0009447,,Rare genetic disease +GARD:0001219,GARD:0022524,GARD:0010973,,Rare neurologic disease +GARD:0001219,GARD:0022508,GARD:0009447,,Rare inborn errors of metabolism +GARD:0001219,GARD:0022508,GARD:0017032,,Rare inborn errors of metabolism +GARD:0001219,GARD:0022508,GARD:0010973,,Rare inborn errors of metabolism +GARD:0001219,GARD:0022520,GARD:0010973,,Rare ophthalmic disorder +GARD:0001220,GARD:0022508,GARD:0017032,,Rare inborn errors of metabolism +GARD:0001220,GARD:0022531,GARD:0017032,,Rare genetic disease +GARD:0001220,GARD:0022524,GARD:0017032,,Rare neurologic disease +GARD:0001220,GARD:0022520,GARD:0017032,,Rare ophthalmic disorder +GARD:0001222,GARD:0022524,GARD:0010973,,Rare neurologic disease +GARD:0001222,GARD:0022508,GARD:0010973,,Rare inborn errors of metabolism +GARD:0001222,GARD:0022531,GARD:0010973,,Rare genetic disease +GARD:0001222,GARD:0022520,GARD:0010973,,Rare ophthalmic disorder +GARD:0001223,GARD:0022524,GARD:0017032,,Rare neurologic disease +GARD:0001223,GARD:0022520,GARD:0017032,,Rare ophthalmic disorder +GARD:0001223,GARD:0022531,GARD:0017032,,Rare genetic disease +GARD:0001223,GARD:0022508,GARD:0017032,,Rare inborn errors of metabolism +GARD:0001224,GARD:0022508,GARD:0017032,,Rare inborn errors of metabolism +GARD:0001224,GARD:0022520,GARD:0010973,,Rare ophthalmic disorder +GARD:0001224,GARD:0022531,GARD:0017032,,Rare genetic disease +GARD:0001224,GARD:0022524,GARD:0017032,,Rare neurologic disease +GARD:0001224,GARD:0022531,GARD:0010973,,Rare genetic disease +GARD:0001224,GARD:0022508,GARD:0010973,,Rare inborn errors of metabolism +GARD:0001224,GARD:0022520,GARD:0017032,,Rare ophthalmic disorder +GARD:0001224,GARD:0022524,GARD:0010973,,Rare neurologic disease +GARD:0001226,GARD:0022531,GARD:0018996,,Rare genetic disease +GARD:0001226,GARD:0022524,GARD:0021002,,Rare neurologic disease +GARD:0001226,GARD:0022513,GARD:0021002,,Rare developmental defect during embryogenesis +GARD:0001226,GARD:0022531,GARD:0021009,,Rare genetic disease +GARD:0001226,GARD:0022510,GARD:0018996,,Rare skin disease +GARD:0001233,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0001233,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0001233,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0001233,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0001233,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0001233,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0001233,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0001234,GARD:0022521,GARD:0020219,,Rare endocrine disease +GARD:0001234,GARD:0022529,GARD:0020219,,Rare infertility +GARD:0001234,GARD:0022514,GARD:0020219,,Rare gynecologic or obstetric disease +GARD:0001234,GARD:0022531,GARD:0020219,,Rare genetic disease +GARD:0001234,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0001234,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0001235,GARD:0022515,GARD:0020537,,Rare cardiac disease +GARD:0001237,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0001237,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0001237,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001237,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001237,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001237,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0001240,GARD:0022513,GARD:0012444,,Rare developmental defect during embryogenesis +GARD:0001240,GARD:0022524,GARD:0012444,,Rare neurologic disease +GARD:0001240,GARD:0022531,GARD:0012444,,Rare genetic disease +GARD:0001240,GARD:0022528,GARD:0012444,,Rare otorhinolaryngologic disease +GARD:0001243,GARD:0022528,GARD:0012444,,Rare otorhinolaryngologic disease +GARD:0001243,GARD:0022524,GARD:0012444,,Rare neurologic disease +GARD:0001243,GARD:0022513,GARD:0012444,,Rare developmental defect during embryogenesis +GARD:0001243,GARD:0022531,GARD:0012444,,Rare genetic disease +GARD:0001244,GARD:0022524,GARD:0012444,,Rare neurologic disease +GARD:0001244,GARD:0022531,GARD:0012444,,Rare genetic disease +GARD:0001244,GARD:0022513,GARD:0012444,,Rare developmental defect during embryogenesis +GARD:0001244,GARD:0022528,GARD:0012444,,Rare otorhinolaryngologic disease +GARD:0001245,GARD:0022531,GARD:0020870,,Rare genetic disease +GARD:0001245,GARD:0022513,GARD:0020870,,Rare developmental defect during embryogenesis +GARD:0001245,GARD:0022531,GARD:0012433,,Rare genetic disease +GARD:0001245,GARD:0022524,GARD:0012433,,Rare neurologic disease +GARD:0001246,GARD:0022531,GARD:0012433,,Rare genetic disease +GARD:0001246,GARD:0022524,GARD:0012433,,Rare neurologic disease +GARD:0001247,GARD:0022531,GARD:0012433,,Rare genetic disease +GARD:0001247,GARD:0022524,GARD:0012433,,Rare neurologic disease +GARD:0001248,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0001248,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0001249,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0001249,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0001250,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0001250,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0001251,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0001251,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0001252,GARD:0022524,GARD:0012440,,Rare neurologic disease +GARD:0001252,GARD:0022531,GARD:0012440,,Rare genetic disease +GARD:0001253,GARD:0022531,GARD:0012440,,Rare genetic disease +GARD:0001253,GARD:0022524,GARD:0012440,,Rare neurologic disease +GARD:0001258,GARD:0022524,GARD:0012444,,Rare neurologic disease +GARD:0001258,GARD:0022513,GARD:0012444,,Rare developmental defect during embryogenesis +GARD:0001258,GARD:0022528,GARD:0012444,,Rare otorhinolaryngologic disease +GARD:0001258,GARD:0022531,GARD:0012444,,Rare genetic disease +GARD:0001261,GARD:0022507,GARD:0004116,,Rare maxillo-facial surgical disease +GARD:0001261,GARD:0022513,GARD:0022030,,Rare developmental defect during embryogenesis +GARD:0001261,GARD:0022511,GARD:0022030,,Rare bone disease +GARD:0001261,GARD:0022531,GARD:0004116,,Rare genetic disease +GARD:0001261,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0001261,GARD:0022513,GARD:0004116,,Rare developmental defect during embryogenesis +GARD:0001261,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0001261,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0001261,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0001261,GARD:0022511,GARD:0004116,,Rare bone disease +GARD:0001261,GARD:0022531,GARD:0022030,,Rare genetic disease +GARD:0001274,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0001274,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0001274,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0001274,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0001280,GARD:0022506,GARD:0021868,GARD:0015344,Rare hepatic disease +GARD:0001280,GARD:0022536,GARD:0021868,GARD:0015344,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001288,GARD:0022531,GARD:0015255,GARD:0018621,Rare genetic disease +GARD:0001288,GARD:0022508,GARD:0015255,GARD:0018621,Rare inborn errors of metabolism +GARD:0001288,GARD:0022506,GARD:0015255,GARD:0018621,Rare hepatic disease +GARD:0001288,GARD:0022536,GARD:0015255,GARD:0018621,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001289,GARD:0022506,GARD:0015255,,Rare hepatic disease +GARD:0001289,GARD:0022531,GARD:0015255,,Rare genetic disease +GARD:0001289,GARD:0022536,GARD:0015255,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001289,GARD:0022508,GARD:0015255,,Rare inborn errors of metabolism +GARD:0001292,GARD:0022511,GARD:0019202,GARD:0006048,Rare bone disease +GARD:0001292,GARD:0022513,GARD:0019202,GARD:0006048,Rare developmental defect during embryogenesis +GARD:0001292,GARD:0022525,GARD:0020257,GARD:0006048,Rare systemic or rheumatologic disease +GARD:0001292,GARD:0022531,GARD:0021018,GARD:0006048,Rare genetic disease +GARD:0001292,GARD:0022531,GARD:0019202,GARD:0006048,Rare genetic disease +GARD:0001296,GARD:0022508,GARD:0019152,GARD:0015347,Rare inborn errors of metabolism +GARD:0001296,GARD:0022511,GARD:0018679,GARD:0015347,Rare bone disease +GARD:0001296,GARD:0022531,GARD:0018679,GARD:0015347,Rare genetic disease +GARD:0001296,GARD:0022513,GARD:0018679,GARD:0015347,Rare developmental defect during embryogenesis +GARD:0001296,GARD:0022531,GARD:0019152,GARD:0015347,Rare genetic disease +GARD:0001300,GARD:0022513,GARD:0000006,,Rare developmental defect during embryogenesis +GARD:0001300,GARD:0022511,GARD:0000006,,Rare bone disease +GARD:0001300,GARD:0022531,GARD:0000006,,Rare genetic disease +GARD:0001301,GARD:0022519,GARD:0020003,GARD:0016293,Rare surgical cardiac disease +GARD:0001301,GARD:0022531,GARD:0019986,GARD:0016293,Rare genetic disease +GARD:0001301,GARD:0022512,GARD:0019228,GARD:0016185,Rare renal disease +GARD:0001301,GARD:0022517,GARD:0018726,GARD:0016293,Rare respiratory disease +GARD:0001301,GARD:0022513,GARD:0020003,GARD:0016293,Rare developmental defect during embryogenesis +GARD:0001301,GARD:0022517,GARD:0018726,GARD:0016185,Rare respiratory disease +GARD:0001301,GARD:0022513,GARD:0018726,GARD:0016185,Rare developmental defect during embryogenesis +GARD:0001301,GARD:0022531,GARD:0018726,GARD:0016185,Rare genetic disease +GARD:0001301,GARD:0022531,GARD:0019986,GARD:0016185,Rare genetic disease +GARD:0001301,GARD:0022531,GARD:0006317,GARD:0016185,Rare genetic disease +GARD:0001301,GARD:0022536,GARD:0019218,GARD:0016185,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001301,GARD:0022513,GARD:0018726,GARD:0016293,Rare developmental defect during embryogenesis +GARD:0001301,GARD:0022511,GARD:0018726,GARD:0016293,Rare bone disease +GARD:0001301,GARD:0022531,GARD:0019987,GARD:0016293,Rare genetic disease +GARD:0001301,GARD:0022512,GARD:0019218,GARD:0016185,Rare renal disease +GARD:0001301,GARD:0022513,GARD:0006317,GARD:0016293,Rare developmental defect during embryogenesis +GARD:0001301,GARD:0022510,GARD:0006317,GARD:0016185,Rare skin disease +GARD:0001301,GARD:0022531,GARD:0019987,GARD:0016185,Rare genetic disease +GARD:0001301,GARD:0022510,GARD:0006317,GARD:0016293,Rare skin disease +GARD:0001301,GARD:0022531,GARD:0019218,GARD:0016293,Rare genetic disease +GARD:0001301,GARD:0022513,GARD:0006317,GARD:0016185,Rare developmental defect during embryogenesis +GARD:0001301,GARD:0022512,GARD:0019218,GARD:0016293,Rare renal disease +GARD:0001301,GARD:0022513,GARD:0019218,GARD:0016185,Rare developmental defect during embryogenesis +GARD:0001301,GARD:0022511,GARD:0018726,GARD:0016185,Rare bone disease +GARD:0001301,GARD:0022513,GARD:0019218,GARD:0016293,Rare developmental defect during embryogenesis +GARD:0001301,GARD:0022531,GARD:0019228,GARD:0016293,Rare genetic disease +GARD:0001301,GARD:0022531,GARD:0018726,GARD:0016293,Rare genetic disease +GARD:0001301,GARD:0022531,GARD:0020003,GARD:0016185,Rare genetic disease +GARD:0001301,GARD:0022512,GARD:0019228,GARD:0016293,Rare renal disease +GARD:0001301,GARD:0022531,GARD:0019228,GARD:0016185,Rare genetic disease +GARD:0001301,GARD:0022536,GARD:0019218,GARD:0016293,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001301,GARD:0022531,GARD:0006317,GARD:0016293,Rare genetic disease +GARD:0001301,GARD:0022513,GARD:0020003,GARD:0016185,Rare developmental defect during embryogenesis +GARD:0001301,GARD:0022531,GARD:0019218,GARD:0016185,Rare genetic disease +GARD:0001301,GARD:0022531,GARD:0020003,GARD:0016293,Rare genetic disease +GARD:0001301,GARD:0022519,GARD:0020003,GARD:0016185,Rare surgical cardiac disease +GARD:0001303,GARD:0022521,GARD:0019279,,Rare endocrine disease +GARD:0001303,GARD:0022511,GARD:0018892,,Rare bone disease +GARD:0001303,GARD:0022535,GARD:0018892,,Rare neoplastic disease +GARD:0001303,GARD:0022531,GARD:0020289,,Rare genetic disease +GARD:0001303,GARD:0022521,GARD:0019768,,Rare endocrine disease +GARD:0001303,GARD:0022531,GARD:0021015,,Rare genetic disease +GARD:0001303,GARD:0022535,GARD:0019768,,Rare neoplastic disease +GARD:0001305,GARD:0022524,GARD:0021271,GARD:0015152,Rare neurologic disease +GARD:0001305,GARD:0022531,GARD:0020029,GARD:0015152,Rare genetic disease +GARD:0001305,GARD:0022531,GARD:0021271,GARD:0015152,Rare genetic disease +GARD:0001305,GARD:0022524,GARD:0020029,GARD:0015152,Rare neurologic disease +GARD:0001313,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0001313,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0001313,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0001313,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0001319,GARD:0022509,GARD:0020047,,Rare infectious disease +GARD:0001320,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0001320,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0001322,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0001322,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001322,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001322,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0001322,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001323,GARD:0022513,GARD:0020814,,Rare developmental defect during embryogenesis +GARD:0001323,GARD:0022531,GARD:0020814,,Rare genetic disease +GARD:0001325,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0001325,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0001327,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0001327,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0001328,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0001328,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0001333,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0001333,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0001334,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0001334,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0001334,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0001334,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0001336,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0001336,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0001339,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0001339,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0001345,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0001345,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0001347,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0001347,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0001348,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0001348,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0001356,GARD:0022511,GARD:0022020,,Rare bone disease +GARD:0001356,GARD:0022510,GARD:0010927,,Rare skin disease +GARD:0001356,GARD:0021079,GARD:0010927,,Rare systemic or rheumatological disease of childhood +GARD:0001356,GARD:0022513,GARD:0022020,,Rare developmental defect during embryogenesis +GARD:0001356,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0001356,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0001356,GARD:0022525,GARD:0010927,,Rare systemic or rheumatologic disease +GARD:0001356,GARD:0022520,GARD:0021101,,Rare ophthalmic disorder +GARD:0001356,GARD:0022531,GARD:0022020,,Rare genetic disease +GARD:0001356,GARD:0022523,GARD:0010927,,Rare immune disease +GARD:0001356,GARD:0022531,GARD:0010927,,Rare genetic disease +GARD:0001358,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0001358,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0001358,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0001358,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0001359,GARD:0022534,GARD:0022534,,Rare abdominal surgical disease +GARD:0001360,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0001360,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0001360,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0001361,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0001361,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0001361,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0001369,GARD:0022511,GARD:0022030,GARD:0015572,Rare bone disease +GARD:0001369,GARD:0022511,GARD:0021186,GARD:0015572,Rare bone disease +GARD:0001369,GARD:0022511,GARD:0022030,GARD:0015050,Rare bone disease +GARD:0001369,GARD:0022513,GARD:0022030,GARD:0015572,Rare developmental defect during embryogenesis +GARD:0001369,GARD:0022528,GARD:0019908,GARD:0015572,Rare otorhinolaryngologic disease +GARD:0001369,GARD:0022531,GARD:0022030,GARD:0015492,Rare genetic disease +GARD:0001369,GARD:0022513,GARD:0021187,GARD:0015492,Rare developmental defect during embryogenesis +GARD:0001369,GARD:0022531,GARD:0021187,GARD:0015492,Rare genetic disease +GARD:0001369,GARD:0022531,GARD:0021727,GARD:0015572,Rare genetic disease +GARD:0001369,GARD:0022513,GARD:0021187,GARD:0015572,Rare developmental defect during embryogenesis +GARD:0001369,GARD:0022511,GARD:0021186,GARD:0015492,Rare bone disease +GARD:0001369,GARD:0022528,GARD:0019908,GARD:0015492,Rare otorhinolaryngologic disease +GARD:0001369,GARD:0022531,GARD:0021727,GARD:0015492,Rare genetic disease +GARD:0001369,GARD:0022531,GARD:0021187,GARD:0015572,Rare genetic disease +GARD:0001369,GARD:0022511,GARD:0022030,GARD:0015492,Rare bone disease +GARD:0001369,GARD:0022513,GARD:0022030,GARD:0015492,Rare developmental defect during embryogenesis +GARD:0001369,GARD:0022531,GARD:0019908,GARD:0015572,Rare genetic disease +GARD:0001369,GARD:0022513,GARD:0021186,GARD:0015050,Rare developmental defect during embryogenesis +GARD:0001369,GARD:0022531,GARD:0019908,GARD:0015050,Rare genetic disease +GARD:0001369,GARD:0022513,GARD:0021186,GARD:0015572,Rare developmental defect during embryogenesis +GARD:0001369,GARD:0022528,GARD:0019908,GARD:0015050,Rare otorhinolaryngologic disease +GARD:0001369,GARD:0022513,GARD:0022030,GARD:0015050,Rare developmental defect during embryogenesis +GARD:0001369,GARD:0022511,GARD:0021187,GARD:0015492,Rare bone disease +GARD:0001369,GARD:0022507,GARD:0019908,GARD:0015572,Rare maxillo-facial surgical disease +GARD:0001369,GARD:0022513,GARD:0021186,GARD:0015492,Rare developmental defect during embryogenesis +GARD:0001369,GARD:0022507,GARD:0019908,GARD:0015492,Rare maxillo-facial surgical disease +GARD:0001369,GARD:0022513,GARD:0019908,GARD:0015572,Rare developmental defect during embryogenesis +GARD:0001369,GARD:0022511,GARD:0021186,GARD:0015050,Rare bone disease +GARD:0001369,GARD:0022531,GARD:0022030,GARD:0015572,Rare genetic disease +GARD:0001369,GARD:0022531,GARD:0021727,GARD:0015050,Rare genetic disease +GARD:0001369,GARD:0022531,GARD:0022030,GARD:0015050,Rare genetic disease +GARD:0001369,GARD:0022511,GARD:0021187,GARD:0015050,Rare bone disease +GARD:0001369,GARD:0022531,GARD:0021187,GARD:0015050,Rare genetic disease +GARD:0001369,GARD:0022507,GARD:0019908,GARD:0015050,Rare maxillo-facial surgical disease +GARD:0001369,GARD:0022513,GARD:0019908,GARD:0015492,Rare developmental defect during embryogenesis +GARD:0001369,GARD:0022513,GARD:0021187,GARD:0015050,Rare developmental defect during embryogenesis +GARD:0001369,GARD:0022513,GARD:0019908,GARD:0015050,Rare developmental defect during embryogenesis +GARD:0001369,GARD:0022511,GARD:0021187,GARD:0015572,Rare bone disease +GARD:0001369,GARD:0022531,GARD:0019908,GARD:0015492,Rare genetic disease +GARD:0001391,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0001391,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0001391,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0001391,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0001391,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0001391,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0001392,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001392,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001392,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0001392,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0001392,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001392,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0001392,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0001393,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0001393,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0001393,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0001394,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0001394,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0001394,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0001394,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0001402,GARD:0022511,GARD:0000085,GARD:0001404,Rare bone disease +GARD:0001402,GARD:0022513,GARD:0000085,GARD:0001404,Rare developmental defect during embryogenesis +GARD:0001402,GARD:0022531,GARD:0000085,GARD:0001404,Rare genetic disease +GARD:0001404,GARD:0022511,GARD:0001402,,Rare bone disease +GARD:0001404,GARD:0022531,GARD:0001402,,Rare genetic disease +GARD:0001404,GARD:0022513,GARD:0001402,,Rare developmental defect during embryogenesis +GARD:0001410,GARD:0022520,GARD:0019931,GARD:0016423,Rare ophthalmic disorder +GARD:0001410,GARD:0022524,GARD:0019931,GARD:0016422,Rare neurologic disease +GARD:0001410,GARD:0022531,GARD:0019987,GARD:0016423,Rare genetic disease +GARD:0001410,GARD:0022531,GARD:0022441,GARD:0016423,Rare genetic disease +GARD:0001410,GARD:0022524,GARD:0019832,GARD:0015153,Rare neurologic disease +GARD:0001410,GARD:0022531,GARD:0020005,GARD:0016423,Rare genetic disease +GARD:0001410,GARD:0022520,GARD:0019931,GARD:0015153,Rare ophthalmic disorder +GARD:0001410,GARD:0022531,GARD:0020005,GARD:0016422,Rare genetic disease +GARD:0001410,GARD:0022531,GARD:0019986,GARD:0016422,Rare genetic disease +GARD:0001410,GARD:0022513,GARD:0020999,GARD:0016423,Rare developmental defect during embryogenesis +GARD:0001410,GARD:0022506,GARD:0019789,GARD:0015153,Rare hepatic disease +GARD:0001410,GARD:0022524,GARD:0020999,GARD:0016422,Rare neurologic disease +GARD:0001410,GARD:0022531,GARD:0019931,GARD:0016422,Rare genetic disease +GARD:0001410,GARD:0022524,GARD:0020999,GARD:0015153,Rare neurologic disease +GARD:0001410,GARD:0022524,GARD:0019832,GARD:0016422,Rare neurologic disease +GARD:0001410,GARD:0022531,GARD:0021008,GARD:0015153,Rare genetic disease +GARD:0001410,GARD:0022506,GARD:0019789,GARD:0016422,Rare hepatic disease +GARD:0001410,GARD:0022531,GARD:0019986,GARD:0016423,Rare genetic disease +GARD:0001410,GARD:0022531,GARD:0019931,GARD:0015153,Rare genetic disease +GARD:0001410,GARD:0022531,GARD:0022441,GARD:0015153,Rare genetic disease +GARD:0001410,GARD:0022531,GARD:0020005,GARD:0015153,Rare genetic disease +GARD:0001410,GARD:0022531,GARD:0021008,GARD:0016422,Rare genetic disease +GARD:0001410,GARD:0022531,GARD:0019986,GARD:0015153,Rare genetic disease +GARD:0001410,GARD:0022531,GARD:0021008,GARD:0016423,Rare genetic disease +GARD:0001410,GARD:0022524,GARD:0020999,GARD:0016423,Rare neurologic disease +GARD:0001410,GARD:0022513,GARD:0020999,GARD:0016422,Rare developmental defect during embryogenesis +GARD:0001410,GARD:0022506,GARD:0019789,GARD:0016423,Rare hepatic disease +GARD:0001410,GARD:0022520,GARD:0019931,GARD:0016422,Rare ophthalmic disorder +GARD:0001410,GARD:0022513,GARD:0019832,GARD:0016423,Rare developmental defect during embryogenesis +GARD:0001410,GARD:0022524,GARD:0019832,GARD:0016423,Rare neurologic disease +GARD:0001410,GARD:0022513,GARD:0020999,GARD:0015153,Rare developmental defect during embryogenesis +GARD:0001410,GARD:0022531,GARD:0019987,GARD:0016422,Rare genetic disease +GARD:0001410,GARD:0022513,GARD:0019832,GARD:0016422,Rare developmental defect during embryogenesis +GARD:0001410,GARD:0022513,GARD:0019832,GARD:0015153,Rare developmental defect during embryogenesis +GARD:0001410,GARD:0022531,GARD:0022441,GARD:0016422,Rare genetic disease +GARD:0001410,GARD:0022524,GARD:0019931,GARD:0016423,Rare neurologic disease +GARD:0001410,GARD:0022531,GARD:0019987,GARD:0015153,Rare genetic disease +GARD:0001410,GARD:0022531,GARD:0019931,GARD:0016423,Rare genetic disease +GARD:0001410,GARD:0022524,GARD:0019931,GARD:0015153,Rare neurologic disease +GARD:0001413,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0001413,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0001413,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0001413,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0001413,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0001413,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0001415,GARD:0022531,GARD:0006122,GARD:0015154,Rare genetic disease +GARD:0001415,GARD:0022510,GARD:0006122,GARD:0015067,Rare skin disease +GARD:0001415,GARD:0022513,GARD:0006122,GARD:0015067,Rare developmental defect during embryogenesis +GARD:0001415,GARD:0022513,GARD:0006122,GARD:0015154,Rare developmental defect during embryogenesis +GARD:0001415,GARD:0022535,GARD:0006122,GARD:0015154,Rare neoplastic disease +GARD:0001415,GARD:0022510,GARD:0006122,GARD:0015154,Rare skin disease +GARD:0001415,GARD:0022528,GARD:0006122,GARD:0015067,Rare otorhinolaryngologic disease +GARD:0001415,GARD:0022524,GARD:0006122,GARD:0015067,Rare neurologic disease +GARD:0001415,GARD:0022520,GARD:0006122,GARD:0015067,Rare ophthalmic disorder +GARD:0001415,GARD:0022535,GARD:0006122,GARD:0015067,Rare neoplastic disease +GARD:0001415,GARD:0022520,GARD:0006122,GARD:0015154,Rare ophthalmic disorder +GARD:0001415,GARD:0022524,GARD:0006122,GARD:0015154,Rare neurologic disease +GARD:0001415,GARD:0022531,GARD:0006122,GARD:0015067,Rare genetic disease +GARD:0001415,GARD:0022528,GARD:0006122,GARD:0015154,Rare otorhinolaryngologic disease +GARD:0001417,GARD:0022535,GARD:0006122,GARD:0015067,Rare neoplastic disease +GARD:0001417,GARD:0022510,GARD:0006122,GARD:0015154,Rare skin disease +GARD:0001417,GARD:0022520,GARD:0006122,GARD:0015067,Rare ophthalmic disorder +GARD:0001417,GARD:0022524,GARD:0006122,GARD:0015154,Rare neurologic disease +GARD:0001417,GARD:0022520,GARD:0006122,GARD:0015154,Rare ophthalmic disorder +GARD:0001417,GARD:0022513,GARD:0006122,GARD:0015067,Rare developmental defect during embryogenesis +GARD:0001417,GARD:0022513,GARD:0006122,GARD:0015154,Rare developmental defect during embryogenesis +GARD:0001417,GARD:0022528,GARD:0006122,GARD:0015067,Rare otorhinolaryngologic disease +GARD:0001417,GARD:0022535,GARD:0006122,GARD:0015154,Rare neoplastic disease +GARD:0001417,GARD:0022531,GARD:0006122,GARD:0015154,Rare genetic disease +GARD:0001417,GARD:0022524,GARD:0006122,GARD:0015067,Rare neurologic disease +GARD:0001417,GARD:0022528,GARD:0006122,GARD:0015154,Rare otorhinolaryngologic disease +GARD:0001417,GARD:0022531,GARD:0006122,GARD:0015067,Rare genetic disease +GARD:0001417,GARD:0022510,GARD:0006122,GARD:0015067,Rare skin disease +GARD:0001418,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0001418,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001418,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0001418,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001418,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0001418,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0001418,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001418,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0001418,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0001418,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0001420,GARD:0022535,GARD:0006122,GARD:0015067,Rare neoplastic disease +GARD:0001420,GARD:0022520,GARD:0006122,GARD:0015067,Rare ophthalmic disorder +GARD:0001420,GARD:0022513,GARD:0006122,GARD:0015067,Rare developmental defect during embryogenesis +GARD:0001420,GARD:0022531,GARD:0006122,GARD:0015067,Rare genetic disease +GARD:0001420,GARD:0022510,GARD:0006122,GARD:0015154,Rare skin disease +GARD:0001420,GARD:0022528,GARD:0006122,GARD:0015067,Rare otorhinolaryngologic disease +GARD:0001420,GARD:0022520,GARD:0006122,GARD:0015154,Rare ophthalmic disorder +GARD:0001420,GARD:0022513,GARD:0006122,GARD:0015154,Rare developmental defect during embryogenesis +GARD:0001420,GARD:0022524,GARD:0006122,GARD:0015067,Rare neurologic disease +GARD:0001420,GARD:0022528,GARD:0006122,GARD:0015154,Rare otorhinolaryngologic disease +GARD:0001420,GARD:0022524,GARD:0006122,GARD:0015154,Rare neurologic disease +GARD:0001420,GARD:0022510,GARD:0006122,GARD:0015067,Rare skin disease +GARD:0001420,GARD:0022531,GARD:0006122,GARD:0015154,Rare genetic disease +GARD:0001420,GARD:0022535,GARD:0006122,GARD:0015154,Rare neoplastic disease +GARD:0001421,GARD:0022527,GARD:0019981,,Rare circulatory system disease +GARD:0001421,GARD:0022520,GARD:0022091,,Rare ophthalmic disorder +GARD:0001421,GARD:0021079,GARD:0021081,,Rare systemic or rheumatological disease of childhood +GARD:0001421,GARD:0022528,GARD:0022528,,Rare otorhinolaryngologic disease +GARD:0001421,GARD:0022525,GARD:0019981,,Rare systemic or rheumatologic disease +GARD:0001425,GARD:0022513,GARD:0019201,GARD:0016077,Rare developmental defect during embryogenesis +GARD:0001425,GARD:0022520,GARD:0022094,GARD:0016077,Rare ophthalmic disorder +GARD:0001425,GARD:0022531,GARD:0020294,GARD:0016077,Rare genetic disease +GARD:0001425,GARD:0022531,GARD:0019201,GARD:0016077,Rare genetic disease +GARD:0001425,GARD:0022531,GARD:0022094,GARD:0016077,Rare genetic disease +GARD:0001425,GARD:0022511,GARD:0019201,GARD:0016077,Rare bone disease +GARD:0001425,GARD:0022513,GARD:0019833,GARD:0016077,Rare developmental defect during embryogenesis +GARD:0001425,GARD:0022531,GARD:0021507,GARD:0016077,Rare genetic disease +GARD:0001425,GARD:0022513,GARD:0019390,GARD:0016077,Rare developmental defect during embryogenesis +GARD:0001428,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0001428,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0001433,GARD:0022531,GARD:0020308,,Rare genetic disease +GARD:0001433,GARD:0022513,GARD:0016857,,Rare developmental defect during embryogenesis +GARD:0001433,GARD:0022520,GARD:0019525,,Rare ophthalmic disorder +GARD:0001433,GARD:0022531,GARD:0020298,,Rare genetic disease +GARD:0001434,GARD:0022513,GARD:0016484,,Rare developmental defect during embryogenesis +GARD:0001434,GARD:0022531,GARD:0016484,,Rare genetic disease +GARD:0001434,GARD:0022520,GARD:0016484,,Rare ophthalmic disorder +GARD:0001436,GARD:0022531,GARD:0022183,,Rare genetic disease +GARD:0001436,GARD:0022520,GARD:0022102,,Rare ophthalmic disorder +GARD:0001436,GARD:0022531,GARD:0020298,,Rare genetic disease +GARD:0001436,GARD:0022513,GARD:0016857,,Rare developmental defect during embryogenesis +GARD:0001437,GARD:0022531,GARD:0022107,,Rare genetic disease +GARD:0001437,GARD:0022531,GARD:0020298,,Rare genetic disease +GARD:0001437,GARD:0022520,GARD:0022107,,Rare ophthalmic disorder +GARD:0001437,GARD:0022513,GARD:0016857,,Rare developmental defect during embryogenesis +GARD:0001438,GARD:0022520,GARD:0022112,,Rare ophthalmic disorder +GARD:0001438,GARD:0022513,GARD:0022112,,Rare developmental defect during embryogenesis +GARD:0001438,GARD:0022531,GARD:0022154,,Rare genetic disease +GARD:0001440,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0001440,GARD:0022513,GARD:0022084,,Rare developmental defect during embryogenesis +GARD:0001440,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001440,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001440,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0001440,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001440,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0001440,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0001440,GARD:0022531,GARD:0022084,,Rare genetic disease +GARD:0001440,GARD:0022520,GARD:0022084,,Rare ophthalmic disorder +GARD:0001443,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001443,GARD:0022534,GARD:0019856,,Rare abdominal surgical disease +GARD:0001443,GARD:0022531,GARD:0021616,,Rare genetic disease +GARD:0001443,GARD:0022531,GARD:0019274,,Rare genetic disease +GARD:0001443,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0001443,GARD:0022513,GARD:0019856,,Rare developmental defect during embryogenesis +GARD:0001443,GARD:0022521,GARD:0019274,,Rare endocrine disease +GARD:0001443,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001443,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0001443,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0001443,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001446,GARD:0022534,GARD:0019859,,Rare abdominal surgical disease +GARD:0001446,GARD:0022513,GARD:0019859,,Rare developmental defect during embryogenesis +GARD:0001446,GARD:0022536,GARD:0019859,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001446,GARD:0022531,GARD:0019859,,Rare genetic disease +GARD:0001452,GARD:0022531,GARD:0015025,,Rare genetic disease +GARD:0001452,GARD:0022523,GARD:0015025,,Rare immune disease +GARD:0001454,GARD:0022513,GARD:0000802,GARD:0022322,Rare developmental defect during embryogenesis +GARD:0001454,GARD:0022531,GARD:0000802,GARD:0016893,Rare genetic disease +GARD:0001454,GARD:0022513,GARD:0000802,GARD:0016894,Rare developmental defect during embryogenesis +GARD:0001454,GARD:0022519,GARD:0000802,GARD:0022322,Rare surgical cardiac disease +GARD:0001454,GARD:0022519,GARD:0000802,GARD:0016893,Rare surgical cardiac disease +GARD:0001454,GARD:0022531,GARD:0000802,GARD:0022322,Rare genetic disease +GARD:0001454,GARD:0022513,GARD:0000802,GARD:0016893,Rare developmental defect during embryogenesis +GARD:0001454,GARD:0022519,GARD:0000802,GARD:0016894,Rare surgical cardiac disease +GARD:0001454,GARD:0022531,GARD:0000802,GARD:0016894,Rare genetic disease +GARD:0001460,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0001460,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0001460,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0001462,GARD:0022520,GARD:0011897,,Rare ophthalmic disorder +GARD:0001462,GARD:0022531,GARD:0011897,,Rare genetic disease +GARD:0001463,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0001463,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0001463,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0001463,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0001463,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0001465,GARD:0022513,GARD:0019150,GARD:0021473,Rare developmental defect during embryogenesis +GARD:0001465,GARD:0022536,GARD:0019150,GARD:0021474,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001465,GARD:0022532,GARD:0019150,GARD:0021473,Rare urogenital disease +GARD:0001465,GARD:0022521,GARD:0001467,GARD:0021473,Rare endocrine disease +GARD:0001465,GARD:0022531,GARD:0021992,GARD:0021473,Rare genetic disease +GARD:0001465,GARD:0022521,GARD:0019294,GARD:0021473,Rare endocrine disease +GARD:0001465,GARD:0022531,GARD:0021992,GARD:0021474,Rare genetic disease +GARD:0001465,GARD:0022521,GARD:0019150,GARD:0021473,Rare endocrine disease +GARD:0001465,GARD:0022529,GARD:0021681,GARD:0021474,Rare infertility +GARD:0001465,GARD:0022521,GARD:0001467,GARD:0021474,Rare endocrine disease +GARD:0001465,GARD:0022531,GARD:0019150,GARD:0021473,Rare genetic disease +GARD:0001465,GARD:0022531,GARD:0019150,GARD:0021474,Rare genetic disease +GARD:0001465,GARD:0022531,GARD:0001467,GARD:0021473,Rare genetic disease +GARD:0001465,GARD:0022521,GARD:0019294,GARD:0021474,Rare endocrine disease +GARD:0001465,GARD:0022532,GARD:0019150,GARD:0021474,Rare urogenital disease +GARD:0001465,GARD:0022514,GARD:0019294,GARD:0021474,Rare gynecologic or obstetric disease +GARD:0001465,GARD:0022531,GARD:0001467,GARD:0021474,Rare genetic disease +GARD:0001465,GARD:0022529,GARD:0021681,GARD:0021473,Rare infertility +GARD:0001465,GARD:0022513,GARD:0019150,GARD:0021474,Rare developmental defect during embryogenesis +GARD:0001465,GARD:0022521,GARD:0019150,GARD:0021474,Rare endocrine disease +GARD:0001465,GARD:0022514,GARD:0019150,GARD:0021474,Rare gynecologic or obstetric disease +GARD:0001465,GARD:0022531,GARD:0021692,GARD:0021474,Rare genetic disease +GARD:0001465,GARD:0022514,GARD:0019294,GARD:0021473,Rare gynecologic or obstetric disease +GARD:0001465,GARD:0022536,GARD:0019150,GARD:0021473,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001465,GARD:0022531,GARD:0021692,GARD:0021473,Rare genetic disease +GARD:0001465,GARD:0022514,GARD:0019150,GARD:0021473,Rare gynecologic or obstetric disease +GARD:0001467,GARD:0022521,GARD:0020226,GARD:0012665,Rare endocrine disease +GARD:0001467,GARD:0022531,GARD:0020012,GARD:0016665,Rare genetic disease +GARD:0001467,GARD:0022521,GARD:0019804,GARD:0016665,Rare endocrine disease +GARD:0001467,GARD:0022531,GARD:0020226,GARD:0001469,Rare genetic disease +GARD:0001467,GARD:0022531,GARD:0020012,GARD:0001469,Rare genetic disease +GARD:0001467,GARD:0022521,GARD:0019146,GARD:0001465,Rare endocrine disease +GARD:0001467,GARD:0022531,GARD:0020012,GARD:0001465,Rare genetic disease +GARD:0001467,GARD:0022531,GARD:0019804,GARD:0012665,Rare genetic disease +GARD:0001467,GARD:0022531,GARD:0019804,GARD:0009152,Rare genetic disease +GARD:0001467,GARD:0022531,GARD:0020226,GARD:0005658,Rare genetic disease +GARD:0001467,GARD:0022531,GARD:0019804,GARD:0012664,Rare genetic disease +GARD:0001467,GARD:0022521,GARD:0019804,GARD:0001465,Rare endocrine disease +GARD:0001467,GARD:0022521,GARD:0019804,GARD:0009152,Rare endocrine disease +GARD:0001467,GARD:0022521,GARD:0020226,GARD:0016665,Rare endocrine disease +GARD:0001467,GARD:0022531,GARD:0020226,GARD:0009152,Rare genetic disease +GARD:0001467,GARD:0022531,GARD:0020226,GARD:0016665,Rare genetic disease +GARD:0001467,GARD:0022521,GARD:0019146,GARD:0012664,Rare endocrine disease +GARD:0001467,GARD:0022521,GARD:0019146,GARD:0005658,Rare endocrine disease +GARD:0001467,GARD:0022521,GARD:0019804,GARD:0012664,Rare endocrine disease +GARD:0001467,GARD:0022531,GARD:0020012,GARD:0005658,Rare genetic disease +GARD:0001467,GARD:0022531,GARD:0019804,GARD:0016665,Rare genetic disease +GARD:0001467,GARD:0022531,GARD:0020226,GARD:0012664,Rare genetic disease +GARD:0001467,GARD:0022521,GARD:0019804,GARD:0005658,Rare endocrine disease +GARD:0001467,GARD:0022521,GARD:0020226,GARD:0001469,Rare endocrine disease +GARD:0001467,GARD:0022521,GARD:0019804,GARD:0012665,Rare endocrine disease +GARD:0001467,GARD:0022531,GARD:0019804,GARD:0001465,Rare genetic disease +GARD:0001467,GARD:0022531,GARD:0020226,GARD:0001465,Rare genetic disease +GARD:0001467,GARD:0022531,GARD:0020012,GARD:0012665,Rare genetic disease +GARD:0001467,GARD:0022531,GARD:0020012,GARD:0012664,Rare genetic disease +GARD:0001467,GARD:0022531,GARD:0020012,GARD:0009152,Rare genetic disease +GARD:0001467,GARD:0022521,GARD:0019146,GARD:0009152,Rare endocrine disease +GARD:0001467,GARD:0022521,GARD:0019146,GARD:0012665,Rare endocrine disease +GARD:0001467,GARD:0022521,GARD:0020226,GARD:0012664,Rare endocrine disease +GARD:0001467,GARD:0022521,GARD:0019804,GARD:0001469,Rare endocrine disease +GARD:0001467,GARD:0022521,GARD:0019146,GARD:0016665,Rare endocrine disease +GARD:0001467,GARD:0022531,GARD:0020226,GARD:0012665,Rare genetic disease +GARD:0001467,GARD:0022531,GARD:0019804,GARD:0005658,Rare genetic disease +GARD:0001467,GARD:0022521,GARD:0020226,GARD:0009152,Rare endocrine disease +GARD:0001467,GARD:0022531,GARD:0019804,GARD:0001469,Rare genetic disease +GARD:0001467,GARD:0022521,GARD:0020226,GARD:0001465,Rare endocrine disease +GARD:0001467,GARD:0022521,GARD:0019146,GARD:0001469,Rare endocrine disease +GARD:0001467,GARD:0022521,GARD:0020226,GARD:0005658,Rare endocrine disease +GARD:0001469,GARD:0022529,GARD:0021671,,Rare infertility +GARD:0001469,GARD:0022529,GARD:0021681,,Rare infertility +GARD:0001469,GARD:0022531,GARD:0019150,,Rare genetic disease +GARD:0001469,GARD:0022532,GARD:0019150,,Rare urogenital disease +GARD:0001469,GARD:0022521,GARD:0001467,,Rare endocrine disease +GARD:0001469,GARD:0022531,GARD:0021687,,Rare genetic disease +GARD:0001469,GARD:0022514,GARD:0019150,,Rare gynecologic or obstetric disease +GARD:0001469,GARD:0022514,GARD:0019294,,Rare gynecologic or obstetric disease +GARD:0001469,GARD:0022531,GARD:0001467,,Rare genetic disease +GARD:0001469,GARD:0022521,GARD:0019294,,Rare endocrine disease +GARD:0001469,GARD:0022531,GARD:0021692,,Rare genetic disease +GARD:0001469,GARD:0022521,GARD:0019150,,Rare endocrine disease +GARD:0001469,GARD:0022513,GARD:0019150,,Rare developmental defect during embryogenesis +GARD:0001469,GARD:0022536,GARD:0019150,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001469,GARD:0022531,GARD:0021992,,Rare genetic disease +GARD:0001470,GARD:0022510,GARD:0000613,,Rare skin disease +GARD:0001474,GARD:0022524,GARD:0019926,,Rare neurologic disease +GARD:0001474,GARD:0022531,GARD:0019926,,Rare genetic disease +GARD:0001475,GARD:0022518,GARD:0019867,,Rare surgical thoracic disease +GARD:0001475,GARD:0022534,GARD:0019861,,Rare abdominal surgical disease +GARD:0001475,GARD:0022513,GARD:0019867,,Rare developmental defect during embryogenesis +GARD:0001475,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0001475,GARD:0022536,GARD:0019861,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001475,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0001475,GARD:0022513,GARD:0019861,,Rare developmental defect during embryogenesis +GARD:0001480,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0001480,GARD:0022509,GARD:0020626,,Rare infectious disease +GARD:0001480,GARD:0022505,GARD:0020626,,Rare teratologic disease +GARD:0001480,GARD:0022513,GARD:0020626,,Rare developmental defect during embryogenesis +GARD:0001481,GARD:0022517,GARD:0019793,GARD:0015474,Rare respiratory disease +GARD:0001481,GARD:0022534,GARD:0019863,GARD:0015161,Rare abdominal surgical disease +GARD:0001481,GARD:0022517,GARD:0019793,GARD:0015161,Rare respiratory disease +GARD:0001481,GARD:0022518,GARD:0020211,GARD:0015474,Rare surgical thoracic disease +GARD:0001481,GARD:0022513,GARD:0019863,GARD:0015474,Rare developmental defect during embryogenesis +GARD:0001481,GARD:0022518,GARD:0020211,GARD:0015295,Rare surgical thoracic disease +GARD:0001481,GARD:0022513,GARD:0019863,GARD:0015295,Rare developmental defect during embryogenesis +GARD:0001481,GARD:0022517,GARD:0019793,GARD:0015295,Rare respiratory disease +GARD:0001481,GARD:0022534,GARD:0019863,GARD:0015474,Rare abdominal surgical disease +GARD:0001481,GARD:0022518,GARD:0020211,GARD:0015161,Rare surgical thoracic disease +GARD:0001481,GARD:0022534,GARD:0019863,GARD:0015295,Rare abdominal surgical disease +GARD:0001481,GARD:0022513,GARD:0019863,GARD:0015161,Rare developmental defect during embryogenesis +GARD:0001487,GARD:0022521,GARD:0020221,GARD:0020142,Rare endocrine disease +GARD:0001487,GARD:0022521,GARD:0019146,GARD:0020560,Rare endocrine disease +GARD:0001487,GARD:0022521,GARD:0020221,GARD:0020560,Rare endocrine disease +GARD:0001487,GARD:0022521,GARD:0019146,GARD:0020142,Rare endocrine disease +GARD:0001487,GARD:0022531,GARD:0020221,GARD:0020564,Rare genetic disease +GARD:0001487,GARD:0022531,GARD:0020221,GARD:0020560,Rare genetic disease +GARD:0001489,GARD:0022510,GARD:0021112,,Rare skin disease +GARD:0001489,GARD:0022531,GARD:0021112,,Rare genetic disease +GARD:0001493,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001493,GARD:0022512,GARD:0019233,,Rare renal disease +GARD:0001493,GARD:0022535,GARD:0019233,,Rare neoplastic disease +GARD:0001495,GARD:0022519,GARD:0019554,GARD:0019266,Rare surgical cardiac disease +GARD:0001495,GARD:0022513,GARD:0019554,GARD:0019266,Rare developmental defect during embryogenesis +GARD:0001495,GARD:0022519,GARD:0019554,GARD:0019267,Rare surgical cardiac disease +GARD:0001495,GARD:0022513,GARD:0019554,GARD:0019267,Rare developmental defect during embryogenesis +GARD:0001496,GARD:0022513,GARD:0019266,,Rare developmental defect during embryogenesis +GARD:0001496,GARD:0022519,GARD:0019266,,Rare surgical cardiac disease +GARD:0001500,GARD:0022531,GARD:0022265,,Rare genetic disease +GARD:0001500,GARD:0022512,GARD:0022265,,Rare renal disease +GARD:0001500,GARD:0022536,GARD:0022265,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001502,GARD:0022516,GARD:0019873,GARD:0021578,Rare gastroenterologic disease +GARD:0001502,GARD:0022536,GARD:0022062,GARD:0021578,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001502,GARD:0022536,GARD:0022062,GARD:0019258,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001502,GARD:0022516,GARD:0019873,GARD:0019258,Rare gastroenterologic disease +GARD:0001503,GARD:0022513,GARD:0021180,,Rare developmental defect during embryogenesis +GARD:0001503,GARD:0022531,GARD:0021180,,Rare genetic disease +GARD:0001503,GARD:0022511,GARD:0021180,,Rare bone disease +GARD:0001512,GARD:0022531,GARD:0020363,,Rare genetic disease +GARD:0001512,GARD:0022531,GARD:0019566,,Rare genetic disease +GARD:0001512,GARD:0022524,GARD:0019566,,Rare neurologic disease +GARD:0001512,GARD:0022524,GARD:0020363,,Rare neurologic disease +GARD:0001513,GARD:0022531,GARD:0019437,,Rare genetic disease +GARD:0001513,GARD:0022524,GARD:0019437,,Rare neurologic disease +GARD:0001515,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0001515,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001515,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0001515,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0001515,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0001515,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001515,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0001515,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001515,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0001515,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0001516,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0001516,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001516,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0001516,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001516,GARD:0022531,GARD:0021243,,Rare genetic disease +GARD:0001516,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001518,GARD:0022531,GARD:0020076,,Rare genetic disease +GARD:0001518,GARD:0022524,GARD:0020087,,Rare neurologic disease +GARD:0001518,GARD:0022531,GARD:0019569,,Rare genetic disease +GARD:0001518,GARD:0022531,GARD:0020087,,Rare genetic disease +GARD:0001518,GARD:0022524,GARD:0020076,,Rare neurologic disease +GARD:0001518,GARD:0022531,GARD:0019571,,Rare genetic disease +GARD:0001519,GARD:0022531,GARD:0019435,GARD:0015234,Rare genetic disease +GARD:0001519,GARD:0022524,GARD:0019435,GARD:0015054,Rare neurologic disease +GARD:0001519,GARD:0022524,GARD:0019435,GARD:0015234,Rare neurologic disease +GARD:0001519,GARD:0022524,GARD:0019435,GARD:0015427,Rare neurologic disease +GARD:0001519,GARD:0022531,GARD:0019571,GARD:0015427,Rare genetic disease +GARD:0001519,GARD:0022531,GARD:0019571,GARD:0015054,Rare genetic disease +GARD:0001519,GARD:0022531,GARD:0019435,GARD:0015054,Rare genetic disease +GARD:0001519,GARD:0022531,GARD:0019571,GARD:0015234,Rare genetic disease +GARD:0001519,GARD:0022531,GARD:0019435,GARD:0015427,Rare genetic disease +GARD:0001521,GARD:0022508,GARD:0021354,,Rare inborn errors of metabolism +GARD:0001521,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0001521,GARD:0022531,GARD:0020553,,Rare genetic disease +GARD:0001521,GARD:0022531,GARD:0021354,,Rare genetic disease +GARD:0001521,GARD:0022510,GARD:0018998,,Rare skin disease +GARD:0001521,GARD:0022524,GARD:0020553,,Rare neurologic disease +GARD:0001521,GARD:0022531,GARD:0018998,,Rare genetic disease +GARD:0001521,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0001521,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0001521,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0001522,GARD:0022508,GARD:0021354,,Rare inborn errors of metabolism +GARD:0001522,GARD:0022531,GARD:0021354,,Rare genetic disease +GARD:0001525,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0001525,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001525,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001525,GARD:0022531,GARD:0019521,,Rare genetic disease +GARD:0001525,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0001525,GARD:0022520,GARD:0019521,,Rare ophthalmic disorder +GARD:0001525,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001529,GARD:0022531,GARD:0019521,,Rare genetic disease +GARD:0001529,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0001529,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0001529,GARD:0022520,GARD:0019521,,Rare ophthalmic disorder +GARD:0001529,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0001531,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0001531,GARD:0022520,GARD:0019521,,Rare ophthalmic disorder +GARD:0001531,GARD:0022531,GARD:0019521,,Rare genetic disease +GARD:0001531,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0001531,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0001533,GARD:0022519,GARD:0001534,,Rare surgical cardiac disease +GARD:0001533,GARD:0022513,GARD:0001534,,Rare developmental defect during embryogenesis +GARD:0001534,GARD:0022519,GARD:0019094,GARD:0022230,Rare surgical cardiac disease +GARD:0001534,GARD:0022519,GARD:0019094,GARD:0001533,Rare surgical cardiac disease +GARD:0001534,GARD:0022513,GARD:0019094,GARD:0022230,Rare developmental defect during embryogenesis +GARD:0001534,GARD:0022513,GARD:0019094,GARD:0019273,Rare developmental defect during embryogenesis +GARD:0001534,GARD:0022513,GARD:0019094,GARD:0022227,Rare developmental defect during embryogenesis +GARD:0001534,GARD:0022513,GARD:0019094,GARD:0001533,Rare developmental defect during embryogenesis +GARD:0001534,GARD:0022513,GARD:0019094,GARD:0022226,Rare developmental defect during embryogenesis +GARD:0001534,GARD:0022519,GARD:0019094,GARD:0019273,Rare surgical cardiac disease +GARD:0001534,GARD:0022519,GARD:0019094,GARD:0022227,Rare surgical cardiac disease +GARD:0001534,GARD:0022519,GARD:0019094,GARD:0022226,Rare surgical cardiac disease +GARD:0001537,GARD:0022531,GARD:0021010,,Rare genetic disease +GARD:0001537,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0001537,GARD:0022524,GARD:0020381,,Rare neurologic disease +GARD:0001537,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001537,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001537,GARD:0022531,GARD:0020381,,Rare genetic disease +GARD:0001537,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0001537,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001544,GARD:0022519,GARD:0007795,,Rare surgical cardiac disease +GARD:0001544,GARD:0022513,GARD:0007795,,Rare developmental defect during embryogenesis +GARD:0001548,GARD:0022520,GARD:0022116,,Rare ophthalmic disorder +GARD:0001548,GARD:0022531,GARD:0022151,,Rare genetic disease +GARD:0001548,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001548,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001548,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001550,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0001550,GARD:0022536,GARD:0020523,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001550,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0001550,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001550,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001550,GARD:0022519,GARD:0019561,,Rare surgical cardiac disease +GARD:0001550,GARD:0022531,GARD:0021965,,Rare genetic disease +GARD:0001550,GARD:0022513,GARD:0019561,,Rare developmental defect during embryogenesis +GARD:0001550,GARD:0022531,GARD:0020574,,Rare genetic disease +GARD:0001550,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001550,GARD:0022515,GARD:0020523,,Rare cardiac disease +GARD:0001550,GARD:0022531,GARD:0019561,,Rare genetic disease +GARD:0001550,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0001550,GARD:0022510,GARD:0020574,,Rare skin disease +GARD:0001550,GARD:0022531,GARD:0020523,,Rare genetic disease +GARD:0001550,GARD:0022524,GARD:0021965,,Rare neurologic disease +GARD:0001550,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0001551,GARD:0022517,GARD:0020248,,Rare respiratory disease +GARD:0001555,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0001555,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0001555,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0001558,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0001558,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0001558,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0001561,GARD:0022510,GARD:0018998,,Rare skin disease +GARD:0001561,GARD:0022531,GARD:0018998,,Rare genetic disease +GARD:0001564,GARD:0022531,GARD:0020667,,Rare genetic disease +GARD:0001564,GARD:0022513,GARD:0020667,,Rare developmental defect during embryogenesis +GARD:0001564,GARD:0022511,GARD:0020667,,Rare bone disease +GARD:0001567,GARD:0022513,GARD:0019200,GARD:0000249,Rare developmental defect during embryogenesis +GARD:0001567,GARD:0022531,GARD:0020294,GARD:0000249,Rare genetic disease +GARD:0001567,GARD:0022531,GARD:0020294,GARD:0015156,Rare genetic disease +GARD:0001567,GARD:0022511,GARD:0019200,GARD:0015156,Rare bone disease +GARD:0001567,GARD:0022513,GARD:0019390,GARD:0015156,Rare developmental defect during embryogenesis +GARD:0001567,GARD:0022531,GARD:0019200,GARD:0015156,Rare genetic disease +GARD:0001567,GARD:0022513,GARD:0019390,GARD:0000249,Rare developmental defect during embryogenesis +GARD:0001567,GARD:0022513,GARD:0019200,GARD:0015156,Rare developmental defect during embryogenesis +GARD:0001567,GARD:0022511,GARD:0019200,GARD:0000249,Rare bone disease +GARD:0001567,GARD:0022531,GARD:0019200,GARD:0000249,Rare genetic disease +GARD:0001571,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0001571,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0001571,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0001571,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0001571,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0001575,GARD:0022511,GARD:0022474,,Rare bone disease +GARD:0001575,GARD:0022531,GARD:0022474,,Rare genetic disease +GARD:0001575,GARD:0022513,GARD:0022474,,Rare developmental defect during embryogenesis +GARD:0001578,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0001578,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001578,GARD:0022511,GARD:0002392,,Rare bone disease +GARD:0001578,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0001578,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0001578,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0001578,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001578,GARD:0022531,GARD:0002392,,Rare genetic disease +GARD:0001578,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0001578,GARD:0022513,GARD:0002392,,Rare developmental defect during embryogenesis +GARD:0001578,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0001578,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001581,GARD:0022513,GARD:0015013,,Rare developmental defect during embryogenesis +GARD:0001581,GARD:0022511,GARD:0015013,,Rare bone disease +GARD:0001581,GARD:0022531,GARD:0015013,,Rare genetic disease +GARD:0001582,GARD:0022513,GARD:0015013,,Rare developmental defect during embryogenesis +GARD:0001582,GARD:0022531,GARD:0015013,,Rare genetic disease +GARD:0001582,GARD:0022511,GARD:0015013,,Rare bone disease +GARD:0001583,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0001583,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0001583,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0001601,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0001601,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0001601,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0001601,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0001601,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0001601,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0001602,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0001602,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0001602,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0001602,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0001602,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0001602,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0001602,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001605,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0001605,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0001605,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0001605,GARD:0022513,GARD:0019820,,Rare developmental defect during embryogenesis +GARD:0001605,GARD:0022524,GARD:0019820,,Rare neurologic disease +GARD:0001605,GARD:0022531,GARD:0019820,,Rare genetic disease +GARD:0001608,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001608,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001608,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0001608,GARD:0022508,GARD:0018952,,Rare inborn errors of metabolism +GARD:0001608,GARD:0022524,GARD:0018952,,Rare neurologic disease +GARD:0001608,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0001608,GARD:0022531,GARD:0018952,,Rare genetic disease +GARD:0001608,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001609,GARD:0022509,GARD:0019723,,Rare infectious disease +GARD:0001611,GARD:0022531,GARD:0021708,,Rare genetic disease +GARD:0001611,GARD:0022524,GARD:0021708,,Rare neurologic disease +GARD:0001613,GARD:0022531,GARD:0020281,GARD:0015386,Rare genetic disease +GARD:0001613,GARD:0022531,GARD:0022184,GARD:0015068,Rare genetic disease +GARD:0001613,GARD:0022520,GARD:0022104,GARD:0015292,Rare ophthalmic disorder +GARD:0001613,GARD:0022531,GARD:0020281,GARD:0016238,Rare genetic disease +GARD:0001613,GARD:0022520,GARD:0022104,GARD:0015646,Rare ophthalmic disorder +GARD:0001613,GARD:0022520,GARD:0022098,GARD:0016238,Rare ophthalmic disorder +GARD:0001613,GARD:0022520,GARD:0022104,GARD:0016118,Rare ophthalmic disorder +GARD:0001613,GARD:0022531,GARD:0022184,GARD:0015292,Rare genetic disease +GARD:0001613,GARD:0022520,GARD:0022098,GARD:0015386,Rare ophthalmic disorder +GARD:0001613,GARD:0022531,GARD:0020281,GARD:0015337,Rare genetic disease +GARD:0001613,GARD:0022531,GARD:0022184,GARD:0016238,Rare genetic disease +GARD:0001613,GARD:0022531,GARD:0022098,GARD:0015386,Rare genetic disease +GARD:0001613,GARD:0022520,GARD:0022104,GARD:0015068,Rare ophthalmic disorder +GARD:0001613,GARD:0022520,GARD:0022104,GARD:0015386,Rare ophthalmic disorder +GARD:0001613,GARD:0022531,GARD:0022098,GARD:0015292,Rare genetic disease +GARD:0001613,GARD:0022531,GARD:0022184,GARD:0015646,Rare genetic disease +GARD:0001613,GARD:0022520,GARD:0022098,GARD:0015646,Rare ophthalmic disorder +GARD:0001613,GARD:0022524,GARD:0018911,GARD:0016238,Rare neurologic disease +GARD:0001613,GARD:0022531,GARD:0020281,GARD:0015068,Rare genetic disease +GARD:0001613,GARD:0022520,GARD:0022104,GARD:0015337,Rare ophthalmic disorder +GARD:0001613,GARD:0022524,GARD:0018911,GARD:0015386,Rare neurologic disease +GARD:0001613,GARD:0022531,GARD:0022098,GARD:0015337,Rare genetic disease +GARD:0001613,GARD:0022524,GARD:0018911,GARD:0015068,Rare neurologic disease +GARD:0001613,GARD:0022524,GARD:0018911,GARD:0015646,Rare neurologic disease +GARD:0001613,GARD:0022520,GARD:0022098,GARD:0015068,Rare ophthalmic disorder +GARD:0001613,GARD:0022531,GARD:0020281,GARD:0015646,Rare genetic disease +GARD:0001613,GARD:0022531,GARD:0022098,GARD:0015068,Rare genetic disease +GARD:0001613,GARD:0022520,GARD:0022104,GARD:0016238,Rare ophthalmic disorder +GARD:0001613,GARD:0022524,GARD:0018911,GARD:0016118,Rare neurologic disease +GARD:0001613,GARD:0022531,GARD:0020281,GARD:0015292,Rare genetic disease +GARD:0001613,GARD:0022524,GARD:0018911,GARD:0015337,Rare neurologic disease +GARD:0001613,GARD:0022520,GARD:0022098,GARD:0015337,Rare ophthalmic disorder +GARD:0001613,GARD:0022524,GARD:0018911,GARD:0015292,Rare neurologic disease +GARD:0001613,GARD:0022531,GARD:0022184,GARD:0015386,Rare genetic disease +GARD:0001613,GARD:0022531,GARD:0022184,GARD:0015337,Rare genetic disease +GARD:0001613,GARD:0022520,GARD:0022098,GARD:0015292,Rare ophthalmic disorder +GARD:0001613,GARD:0022531,GARD:0022098,GARD:0016118,Rare genetic disease +GARD:0001613,GARD:0022531,GARD:0022098,GARD:0016238,Rare genetic disease +GARD:0001613,GARD:0022531,GARD:0022184,GARD:0016118,Rare genetic disease +GARD:0001613,GARD:0022531,GARD:0020281,GARD:0016118,Rare genetic disease +GARD:0001613,GARD:0022520,GARD:0022098,GARD:0016118,Rare ophthalmic disorder +GARD:0001613,GARD:0022531,GARD:0022098,GARD:0015646,Rare genetic disease +GARD:0001614,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001614,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0001614,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0001614,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0001614,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0001617,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0001617,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0001617,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0001620,GARD:0022517,GARD:0013337,,Rare respiratory disease +GARD:0001620,GARD:0022536,GARD:0013337,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001626,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0001626,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0001626,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0001626,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0001626,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0001626,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001626,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0001626,GARD:0022514,GARD:0020187,,Rare gynecologic or obstetric disease +GARD:0001629,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0001633,GARD:0022516,GARD:0019849,,Rare gastroenterologic disease +GARD:0001633,GARD:0022536,GARD:0019849,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001638,GARD:0022531,GARD:0021604,GARD:0017546,Rare genetic disease +GARD:0001638,GARD:0022513,GARD:0021609,GARD:0017546,Rare developmental defect during embryogenesis +GARD:0001638,GARD:0022513,GARD:0019134,GARD:0017546,Rare developmental defect during embryogenesis +GARD:0001638,GARD:0022513,GARD:0019134,GARD:0000273,Rare developmental defect during embryogenesis +GARD:0001638,GARD:0022510,GARD:0021610,GARD:0000273,Rare skin disease +GARD:0001638,GARD:0022511,GARD:0019134,GARD:0017546,Rare bone disease +GARD:0001638,GARD:0022510,GARD:0021610,GARD:0017546,Rare skin disease +GARD:0001638,GARD:0022508,GARD:0021345,GARD:0017546,Rare inborn errors of metabolism +GARD:0001638,GARD:0022531,GARD:0019134,GARD:0017546,Rare genetic disease +GARD:0001638,GARD:0022518,GARD:0019134,GARD:0017546,Rare surgical thoracic disease +GARD:0001638,GARD:0022524,GARD:0021604,GARD:0000273,Rare neurologic disease +GARD:0001638,GARD:0022508,GARD:0021345,GARD:0000273,Rare inborn errors of metabolism +GARD:0001638,GARD:0022531,GARD:0021345,GARD:0000273,Rare genetic disease +GARD:0001638,GARD:0022531,GARD:0021609,GARD:0017546,Rare genetic disease +GARD:0001638,GARD:0022510,GARD:0019134,GARD:0000273,Rare skin disease +GARD:0001638,GARD:0022531,GARD:0021604,GARD:0000273,Rare genetic disease +GARD:0001638,GARD:0022531,GARD:0022440,GARD:0017546,Rare genetic disease +GARD:0001638,GARD:0022508,GARD:0019134,GARD:0017546,Rare inborn errors of metabolism +GARD:0001638,GARD:0022534,GARD:0019134,GARD:0000273,Rare abdominal surgical disease +GARD:0001638,GARD:0022534,GARD:0019134,GARD:0017546,Rare abdominal surgical disease +GARD:0001638,GARD:0022531,GARD:0021610,GARD:0000273,Rare genetic disease +GARD:0001638,GARD:0022524,GARD:0022440,GARD:0017546,Rare neurologic disease +GARD:0001638,GARD:0022531,GARD:0022440,GARD:0000273,Rare genetic disease +GARD:0001638,GARD:0022510,GARD:0019134,GARD:0017546,Rare skin disease +GARD:0001638,GARD:0022531,GARD:0021610,GARD:0017546,Rare genetic disease +GARD:0001638,GARD:0022518,GARD:0019134,GARD:0000273,Rare surgical thoracic disease +GARD:0001638,GARD:0022524,GARD:0022440,GARD:0000273,Rare neurologic disease +GARD:0001638,GARD:0022531,GARD:0021345,GARD:0017546,Rare genetic disease +GARD:0001638,GARD:0022524,GARD:0021604,GARD:0017546,Rare neurologic disease +GARD:0001638,GARD:0022531,GARD:0019134,GARD:0000273,Rare genetic disease +GARD:0001638,GARD:0022531,GARD:0021609,GARD:0000273,Rare genetic disease +GARD:0001638,GARD:0022511,GARD:0019134,GARD:0000273,Rare bone disease +GARD:0001638,GARD:0022508,GARD:0019134,GARD:0000273,Rare inborn errors of metabolism +GARD:0001638,GARD:0022513,GARD:0021609,GARD:0000273,Rare developmental defect during embryogenesis +GARD:0001639,GARD:0022518,GARD:0006227,GARD:0016143,Rare surgical thoracic disease +GARD:0001639,GARD:0022534,GARD:0006227,GARD:0015802,Rare abdominal surgical disease +GARD:0001639,GARD:0022510,GARD:0006227,GARD:0015802,Rare skin disease +GARD:0001639,GARD:0022534,GARD:0006227,GARD:0016143,Rare abdominal surgical disease +GARD:0001639,GARD:0022513,GARD:0006227,GARD:0015802,Rare developmental defect during embryogenesis +GARD:0001639,GARD:0022510,GARD:0006227,GARD:0016143,Rare skin disease +GARD:0001639,GARD:0022531,GARD:0006227,GARD:0015055,Rare genetic disease +GARD:0001639,GARD:0022510,GARD:0006227,GARD:0015055,Rare skin disease +GARD:0001639,GARD:0022513,GARD:0006227,GARD:0016143,Rare developmental defect during embryogenesis +GARD:0001639,GARD:0022531,GARD:0006227,GARD:0015802,Rare genetic disease +GARD:0001639,GARD:0022534,GARD:0006227,GARD:0015055,Rare abdominal surgical disease +GARD:0001639,GARD:0022531,GARD:0006227,GARD:0016143,Rare genetic disease +GARD:0001639,GARD:0022518,GARD:0006227,GARD:0015055,Rare surgical thoracic disease +GARD:0001639,GARD:0022513,GARD:0006227,GARD:0015055,Rare developmental defect during embryogenesis +GARD:0001639,GARD:0022518,GARD:0006227,GARD:0015802,Rare surgical thoracic disease +GARD:0001641,GARD:0022531,GARD:0019134,,Rare genetic disease +GARD:0001641,GARD:0022508,GARD:0019134,,Rare inborn errors of metabolism +GARD:0001641,GARD:0022518,GARD:0019134,,Rare surgical thoracic disease +GARD:0001641,GARD:0022510,GARD:0019134,,Rare skin disease +GARD:0001641,GARD:0022511,GARD:0019134,,Rare bone disease +GARD:0001641,GARD:0022534,GARD:0019134,,Rare abdominal surgical disease +GARD:0001641,GARD:0022513,GARD:0019134,,Rare developmental defect during embryogenesis +GARD:0001643,GARD:0022510,GARD:0019010,GARD:0021538,Rare skin disease +GARD:0001643,GARD:0022510,GARD:0019010,GARD:0021537,Rare skin disease +GARD:0001646,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0001646,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001646,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0001646,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0001654,GARD:0022518,GARD:0021130,,Rare surgical thoracic disease +GARD:0001654,GARD:0022531,GARD:0021130,,Rare genetic disease +GARD:0001654,GARD:0022527,GARD:0021130,,Rare circulatory system disease +GARD:0001666,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0001666,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0001669,GARD:0022524,GARD:0021002,,Rare neurologic disease +GARD:0001669,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0001669,GARD:0022513,GARD:0021002,,Rare developmental defect during embryogenesis +GARD:0001669,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0001669,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0001669,GARD:0022531,GARD:0021009,,Rare genetic disease +GARD:0001671,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0001671,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0001680,GARD:0022531,GARD:0022022,,Rare genetic disease +GARD:0001680,GARD:0022513,GARD:0022022,,Rare developmental defect during embryogenesis +GARD:0001680,GARD:0022511,GARD:0022022,,Rare bone disease +GARD:0001684,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0001684,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0001684,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0001685,GARD:0022531,GARD:0016624,,Rare genetic disease +GARD:0001685,GARD:0022524,GARD:0016624,,Rare neurologic disease +GARD:0001685,GARD:0022513,GARD:0016624,,Rare developmental defect during embryogenesis +GARD:0001685,GARD:0022510,GARD:0016624,,Rare skin disease +GARD:0001685,GARD:0022520,GARD:0016624,,Rare ophthalmic disorder +GARD:0001685,GARD:0022528,GARD:0016624,,Rare otorhinolaryngologic disease +GARD:0001686,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0001686,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0001686,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0001686,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0001686,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0001687,GARD:0022513,GARD:0006317,GARD:0016144,Rare developmental defect during embryogenesis +GARD:0001687,GARD:0022513,GARD:0019909,GARD:0016144,Rare developmental defect during embryogenesis +GARD:0001687,GARD:0022531,GARD:0020302,GARD:0016144,Rare genetic disease +GARD:0001687,GARD:0022528,GARD:0019145,GARD:0016144,Rare otorhinolaryngologic disease +GARD:0001687,GARD:0022526,GARD:0019909,GARD:0016144,Rare odontologic disease +GARD:0001687,GARD:0022510,GARD:0006317,GARD:0016144,Rare skin disease +GARD:0001687,GARD:0022531,GARD:0019145,GARD:0016144,Rare genetic disease +GARD:0001687,GARD:0022513,GARD:0019145,GARD:0016144,Rare developmental defect during embryogenesis +GARD:0001687,GARD:0022531,GARD:0006317,GARD:0016144,Rare genetic disease +GARD:0001688,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0001688,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0001688,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0001691,GARD:0022531,GARD:0020233,,Rare genetic disease +GARD:0001691,GARD:0022521,GARD:0020233,,Rare endocrine disease +GARD:0001691,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0001691,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0001691,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0001691,GARD:0022529,GARD:0020233,,Rare infertility +GARD:0001695,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0001695,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0001695,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0001695,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001695,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0001695,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0001695,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0001696,GARD:0022521,GARD:0012556,,Rare endocrine disease +GARD:0001696,GARD:0022531,GARD:0012556,,Rare genetic disease +GARD:0001697,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0001697,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0001698,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0001698,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0001698,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0001698,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0001698,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0001698,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0001705,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0001705,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0001705,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0001708,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0001708,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0001722,GARD:0022510,GARD:0018986,,Rare skin disease +GARD:0001722,GARD:0022531,GARD:0020262,,Rare genetic disease +GARD:0001727,GARD:0022531,GARD:0020294,,Rare genetic disease +GARD:0001727,GARD:0022513,GARD:0019206,,Rare developmental defect during embryogenesis +GARD:0001727,GARD:0022511,GARD:0019206,,Rare bone disease +GARD:0001727,GARD:0022531,GARD:0019206,,Rare genetic disease +GARD:0001727,GARD:0022513,GARD:0019390,,Rare developmental defect during embryogenesis +GARD:0001802,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0001804,GARD:0022511,GARD:0013105,GARD:0015305,Rare bone disease +GARD:0001804,GARD:0022536,GARD:0013105,GARD:0015011,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001804,GARD:0022513,GARD:0013105,GARD:0015011,Rare developmental defect during embryogenesis +GARD:0001804,GARD:0022521,GARD:0013105,GARD:0015011,Rare endocrine disease +GARD:0001804,GARD:0022531,GARD:0013105,GARD:0015011,Rare genetic disease +GARD:0001804,GARD:0022536,GARD:0013105,GARD:0015301,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001804,GARD:0022536,GARD:0013105,GARD:0015305,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001804,GARD:0022521,GARD:0013105,GARD:0015305,Rare endocrine disease +GARD:0001804,GARD:0022521,GARD:0013105,GARD:0015301,Rare endocrine disease +GARD:0001804,GARD:0022513,GARD:0013105,GARD:0015301,Rare developmental defect during embryogenesis +GARD:0001804,GARD:0022512,GARD:0013105,GARD:0015301,Rare renal disease +GARD:0001804,GARD:0022511,GARD:0013105,GARD:0015011,Rare bone disease +GARD:0001804,GARD:0022531,GARD:0013105,GARD:0015305,Rare genetic disease +GARD:0001804,GARD:0022531,GARD:0013105,GARD:0015301,Rare genetic disease +GARD:0001804,GARD:0022511,GARD:0013105,GARD:0015301,Rare bone disease +GARD:0001804,GARD:0022512,GARD:0013105,GARD:0015011,Rare renal disease +GARD:0001804,GARD:0022513,GARD:0013105,GARD:0015305,Rare developmental defect during embryogenesis +GARD:0001804,GARD:0022512,GARD:0013105,GARD:0015305,Rare renal disease +GARD:0001806,GARD:0022531,GARD:0016575,,Rare genetic disease +GARD:0001806,GARD:0022526,GARD:0016575,,Rare odontologic disease +GARD:0001807,GARD:0022526,GARD:0016575,,Rare odontologic disease +GARD:0001807,GARD:0022531,GARD:0016575,,Rare genetic disease +GARD:0001808,GARD:0022531,GARD:0018936,,Rare genetic disease +GARD:0001808,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0001810,GARD:0022513,GARD:0019212,,Rare developmental defect during embryogenesis +GARD:0001810,GARD:0022531,GARD:0019212,,Rare genetic disease +GARD:0001810,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0001810,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0001810,GARD:0022511,GARD:0019212,,Rare bone disease +GARD:0001810,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001810,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0001810,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001810,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001810,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0001810,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0001813,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0001813,GARD:0022531,GARD:0020574,,Rare genetic disease +GARD:0001813,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0001813,GARD:0022510,GARD:0020574,,Rare skin disease +GARD:0001814,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0001814,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0001814,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0001815,GARD:0022531,GARD:0021970,,Rare genetic disease +GARD:0001815,GARD:0022531,GARD:0019521,,Rare genetic disease +GARD:0001815,GARD:0022510,GARD:0019010,,Rare skin disease +GARD:0001815,GARD:0022520,GARD:0019521,,Rare ophthalmic disorder +GARD:0001816,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0001816,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0001816,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0001816,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0001816,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0001816,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0001818,GARD:0022531,GARD:0019524,GARD:0016451,Rare genetic disease +GARD:0001818,GARD:0022520,GARD:0019524,GARD:0016451,Rare ophthalmic disorder +GARD:0001818,GARD:0022531,GARD:0019198,GARD:0016466,Rare genetic disease +GARD:0001818,GARD:0022511,GARD:0019198,GARD:0016466,Rare bone disease +GARD:0001818,GARD:0022511,GARD:0019198,GARD:0016451,Rare bone disease +GARD:0001818,GARD:0022513,GARD:0019198,GARD:0016466,Rare developmental defect during embryogenesis +GARD:0001818,GARD:0022531,GARD:0019198,GARD:0016451,Rare genetic disease +GARD:0001818,GARD:0022513,GARD:0019198,GARD:0016451,Rare developmental defect during embryogenesis +GARD:0001818,GARD:0022513,GARD:0019905,GARD:0016466,Rare developmental defect during embryogenesis +GARD:0001818,GARD:0022531,GARD:0019524,GARD:0016466,Rare genetic disease +GARD:0001818,GARD:0022520,GARD:0019524,GARD:0016466,Rare ophthalmic disorder +GARD:0001818,GARD:0022531,GARD:0019905,GARD:0016466,Rare genetic disease +GARD:0001818,GARD:0022531,GARD:0019905,GARD:0016451,Rare genetic disease +GARD:0001818,GARD:0022513,GARD:0019905,GARD:0016451,Rare developmental defect during embryogenesis +GARD:0001820,GARD:0022535,GARD:0018907,GARD:0015070,Rare neoplastic disease +GARD:0001823,GARD:0022524,GARD:0020456,,Rare neurologic disease +GARD:0001827,GARD:0022513,GARD:0010875,,Rare developmental defect during embryogenesis +GARD:0001827,GARD:0022519,GARD:0010875,,Rare surgical cardiac disease +GARD:0001839,GARD:0022521,GARD:0018682,GARD:0015482,Rare endocrine disease +GARD:0001839,GARD:0022531,GARD:0018682,GARD:0015490,Rare genetic disease +GARD:0001839,GARD:0022521,GARD:0018682,GARD:0015490,Rare endocrine disease +GARD:0001839,GARD:0022531,GARD:0018682,GARD:0015482,Rare genetic disease +GARD:0001850,GARD:0022536,GARD:0020116,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001850,GARD:0022521,GARD:0019800,,Rare endocrine disease +GARD:0001850,GARD:0022531,GARD:0020116,,Rare genetic disease +GARD:0001850,GARD:0022536,GARD:0022148,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001850,GARD:0022516,GARD:0022148,,Rare gastroenterologic disease +GARD:0001850,GARD:0022531,GARD:0020317,,Rare genetic disease +GARD:0001850,GARD:0022531,GARD:0022148,,Rare genetic disease +GARD:0001850,GARD:0022523,GARD:0020116,,Rare immune disease +GARD:0001851,GARD:0022513,GARD:0022317,,Rare developmental defect during embryogenesis +GARD:0001851,GARD:0022531,GARD:0022317,,Rare genetic disease +GARD:0001851,GARD:0022524,GARD:0022317,,Rare neurologic disease +GARD:0001855,GARD:0022508,GARD:0018948,,Rare inborn errors of metabolism +GARD:0001855,GARD:0022531,GARD:0018948,,Rare genetic disease +GARD:0001859,GARD:0022529,GARD:0021684,,Rare infertility +GARD:0001859,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0001859,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0001859,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0001859,GARD:0022532,GARD:0020171,,Rare urogenital disease +GARD:0001859,GARD:0022536,GARD:0020171,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001859,GARD:0022513,GARD:0020171,,Rare developmental defect during embryogenesis +GARD:0001859,GARD:0022514,GARD:0020171,,Rare gynecologic or obstetric disease +GARD:0001861,GARD:0022527,GARD:0020458,,Rare circulatory system disease +GARD:0001861,GARD:0022535,GARD:0020458,,Rare neoplastic disease +GARD:0001861,GARD:0022513,GARD:0020458,,Rare developmental defect during embryogenesis +GARD:0001862,GARD:0022531,GARD:0019447,,Rare genetic disease +GARD:0001862,GARD:0022510,GARD:0019447,,Rare skin disease +GARD:0001872,GARD:0022513,GARD:0020252,,Rare developmental defect during embryogenesis +GARD:0001872,GARD:0022532,GARD:0020252,,Rare urogenital disease +GARD:0001872,GARD:0022536,GARD:0020252,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001874,GARD:0022531,GARD:0019460,,Rare genetic disease +GARD:0001874,GARD:0022522,GARD:0019460,,Rare hematologic disease +GARD:0001874,GARD:0022508,GARD:0019152,,Rare inborn errors of metabolism +GARD:0001874,GARD:0022531,GARD:0019152,,Rare genetic disease +GARD:0001875,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0001876,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0001883,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0001886,GARD:0022531,GARD:0010529,,Rare genetic disease +GARD:0001886,GARD:0022524,GARD:0010529,,Rare neurologic disease +GARD:0001886,GARD:0022531,GARD:0020429,,Rare genetic disease +GARD:0001886,GARD:0022524,GARD:0020361,,Rare neurologic disease +GARD:0001886,GARD:0022531,GARD:0020361,,Rare genetic disease +GARD:0001887,GARD:0022531,GARD:0020361,,Rare genetic disease +GARD:0001887,GARD:0022524,GARD:0020361,,Rare neurologic disease +GARD:0001891,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0001894,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0001894,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0001896,GARD:0022507,GARD:0022507,GARD:0016907,Rare maxillo-facial surgical disease +GARD:0001896,GARD:0022513,GARD:0019972,GARD:0019774,Rare developmental defect during embryogenesis +GARD:0001896,GARD:0022513,GARD:0019972,GARD:0019976,Rare developmental defect during embryogenesis +GARD:0001896,GARD:0022513,GARD:0019972,GARD:0019687,Rare developmental defect during embryogenesis +GARD:0001896,GARD:0022507,GARD:0022507,GARD:0019687,Rare maxillo-facial surgical disease +GARD:0001896,GARD:0022507,GARD:0022507,GARD:0019774,Rare maxillo-facial surgical disease +GARD:0001896,GARD:0022513,GARD:0019972,GARD:0016907,Rare developmental defect during embryogenesis +GARD:0001896,GARD:0022507,GARD:0022507,GARD:0019976,Rare maxillo-facial surgical disease +GARD:0001898,GARD:0022520,GARD:0016888,GARD:0016887,Rare ophthalmic disorder +GARD:0001898,GARD:0022531,GARD:0016888,GARD:0016885,Rare genetic disease +GARD:0001898,GARD:0022513,GARD:0016888,GARD:0013155,Rare developmental defect during embryogenesis +GARD:0001898,GARD:0022520,GARD:0016888,GARD:0016885,Rare ophthalmic disorder +GARD:0001898,GARD:0022531,GARD:0016888,GARD:0013155,Rare genetic disease +GARD:0001898,GARD:0022513,GARD:0016888,GARD:0016887,Rare developmental defect during embryogenesis +GARD:0001898,GARD:0022531,GARD:0016888,GARD:0016887,Rare genetic disease +GARD:0001898,GARD:0022520,GARD:0016888,GARD:0013155,Rare ophthalmic disorder +GARD:0001898,GARD:0022513,GARD:0016888,GARD:0016885,Rare developmental defect during embryogenesis +GARD:0001899,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0001899,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0001899,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0001899,GARD:0022518,GARD:0020212,,Rare surgical thoracic disease +GARD:0001899,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0001899,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0001902,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0001902,GARD:0022531,GARD:0021127,,Rare genetic disease +GARD:0001902,GARD:0022508,GARD:0012144,,Rare inborn errors of metabolism +GARD:0001902,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0001902,GARD:0022531,GARD:0012144,,Rare genetic disease +GARD:0001902,GARD:0022508,GARD:0021127,,Rare inborn errors of metabolism +GARD:0001902,GARD:0022524,GARD:0012144,,Rare neurologic disease +GARD:0001903,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0001903,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0001903,GARD:0022508,GARD:0021351,,Rare inborn errors of metabolism +GARD:0001903,GARD:0022531,GARD:0021878,,Rare genetic disease +GARD:0001903,GARD:0022524,GARD:0012959,,Rare neurologic disease +GARD:0001903,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0001903,GARD:0022531,GARD:0021351,,Rare genetic disease +GARD:0001903,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0001903,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0001904,GARD:0022531,GARD:0020041,GARD:0002250,Rare genetic disease +GARD:0001904,GARD:0022513,GARD:0020041,GARD:0002250,Rare developmental defect during embryogenesis +GARD:0001904,GARD:0022524,GARD:0020041,GARD:0002250,Rare neurologic disease +GARD:0001907,GARD:0022513,GARD:0008189,,Rare developmental defect during embryogenesis +GARD:0001907,GARD:0022519,GARD:0008189,,Rare surgical cardiac disease +GARD:0001908,GARD:0022531,GARD:0021016,GARD:0019617,Rare genetic disease +GARD:0001908,GARD:0022531,GARD:0021016,GARD:0019616,Rare genetic disease +GARD:0001908,GARD:0022519,GARD:0008189,GARD:0019616,Rare surgical cardiac disease +GARD:0001908,GARD:0022531,GARD:0021016,GARD:0019615,Rare genetic disease +GARD:0001908,GARD:0022513,GARD:0008189,GARD:0019617,Rare developmental defect during embryogenesis +GARD:0001908,GARD:0022519,GARD:0008189,GARD:0019615,Rare surgical cardiac disease +GARD:0001908,GARD:0022519,GARD:0008189,GARD:0021755,Rare surgical cardiac disease +GARD:0001908,GARD:0022513,GARD:0008189,GARD:0019615,Rare developmental defect during embryogenesis +GARD:0001908,GARD:0022513,GARD:0008189,GARD:0021755,Rare developmental defect during embryogenesis +GARD:0001908,GARD:0022519,GARD:0008189,GARD:0021756,Rare surgical cardiac disease +GARD:0001908,GARD:0022513,GARD:0008189,GARD:0019616,Rare developmental defect during embryogenesis +GARD:0001908,GARD:0022513,GARD:0008189,GARD:0021756,Rare developmental defect during embryogenesis +GARD:0001908,GARD:0022519,GARD:0008189,GARD:0019617,Rare surgical cardiac disease +GARD:0001908,GARD:0022531,GARD:0021016,GARD:0021755,Rare genetic disease +GARD:0001908,GARD:0022531,GARD:0021016,GARD:0021756,Rare genetic disease +GARD:0001910,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001910,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0001910,GARD:0022514,GARD:0020187,,Rare gynecologic or obstetric disease +GARD:0001910,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0001910,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0001910,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0001910,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0001912,GARD:0022520,GARD:0022105,GARD:0015060,Rare ophthalmic disorder +GARD:0001912,GARD:0022531,GARD:0022105,GARD:0015060,Rare genetic disease +GARD:0001917,GARD:0022510,GARD:0019028,GARD:0010075,Rare skin disease +GARD:0001975,GARD:0022531,GARD:0021540,,Rare genetic disease +GARD:0001975,GARD:0022536,GARD:0020253,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001975,GARD:0022532,GARD:0020253,,Rare urogenital disease +GARD:0001975,GARD:0022536,GARD:0019217,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001975,GARD:0022513,GARD:0020253,,Rare developmental defect during embryogenesis +GARD:0001975,GARD:0022512,GARD:0019217,,Rare renal disease +GARD:0001975,GARD:0022513,GARD:0019217,,Rare developmental defect during embryogenesis +GARD:0001993,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0001993,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0001993,GARD:0022510,GARD:0021114,,Rare skin disease +GARD:0001993,GARD:0022531,GARD:0021114,,Rare genetic disease +GARD:0001994,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0001994,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0001994,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0001994,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0001994,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0001994,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0001994,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0001996,GARD:0022531,GARD:0020270,GARD:0015581,Rare genetic disease +GARD:0001996,GARD:0022531,GARD:0020270,GARD:0015959,Rare genetic disease +GARD:0001996,GARD:0022510,GARD:0019004,GARD:0015959,Rare skin disease +GARD:0001996,GARD:0022510,GARD:0019004,GARD:0015581,Rare skin disease +GARD:0001998,GARD:0022531,GARD:0019412,GARD:0015930,Rare genetic disease +GARD:0001998,GARD:0022524,GARD:0019412,GARD:0015473,Rare neurologic disease +GARD:0001998,GARD:0022531,GARD:0022440,GARD:0015930,Rare genetic disease +GARD:0001998,GARD:0022524,GARD:0022440,GARD:0015930,Rare neurologic disease +GARD:0001998,GARD:0022524,GARD:0019412,GARD:0015634,Rare neurologic disease +GARD:0001998,GARD:0022524,GARD:0022440,GARD:0015634,Rare neurologic disease +GARD:0001998,GARD:0022531,GARD:0019412,GARD:0015634,Rare genetic disease +GARD:0001998,GARD:0022531,GARD:0022440,GARD:0015473,Rare genetic disease +GARD:0001998,GARD:0022524,GARD:0019412,GARD:0015930,Rare neurologic disease +GARD:0001998,GARD:0022531,GARD:0019412,GARD:0015473,Rare genetic disease +GARD:0001998,GARD:0022531,GARD:0022440,GARD:0015634,Rare genetic disease +GARD:0001998,GARD:0022524,GARD:0022440,GARD:0015473,Rare neurologic disease +GARD:0001999,GARD:0022522,GARD:0021172,GARD:0017344,Rare hematologic disease +GARD:0001999,GARD:0022522,GARD:0021172,GARD:0017574,Rare hematologic disease +GARD:0001999,GARD:0022531,GARD:0021172,GARD:0002000,Rare genetic disease +GARD:0001999,GARD:0022531,GARD:0021172,GARD:0002002,Rare genetic disease +GARD:0001999,GARD:0022522,GARD:0021172,GARD:0016676,Rare hematologic disease +GARD:0001999,GARD:0022531,GARD:0021172,GARD:0017344,Rare genetic disease +GARD:0001999,GARD:0022531,GARD:0021172,GARD:0002001,Rare genetic disease +GARD:0001999,GARD:0022531,GARD:0021172,GARD:0017574,Rare genetic disease +GARD:0001999,GARD:0022522,GARD:0021172,GARD:0002000,Rare hematologic disease +GARD:0001999,GARD:0022531,GARD:0021172,GARD:0016676,Rare genetic disease +GARD:0001999,GARD:0022522,GARD:0021172,GARD:0002001,Rare hematologic disease +GARD:0001999,GARD:0022522,GARD:0021172,GARD:0002002,Rare hematologic disease +GARD:0002000,GARD:0022522,GARD:0001999,GARD:0015994,Rare hematologic disease +GARD:0002000,GARD:0022531,GARD:0001999,GARD:0015994,Rare genetic disease +GARD:0002001,GARD:0022522,GARD:0001999,,Rare hematologic disease +GARD:0002001,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0002001,GARD:0022531,GARD:0001999,,Rare genetic disease +GARD:0002001,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0002002,GARD:0022531,GARD:0001999,,Rare genetic disease +GARD:0002002,GARD:0022522,GARD:0001999,,Rare hematologic disease +GARD:0002003,GARD:0022531,GARD:0020388,GARD:0020335,Rare genetic disease +GARD:0002003,GARD:0022531,GARD:0020388,GARD:0017080,Rare genetic disease +GARD:0002003,GARD:0022531,GARD:0020388,GARD:0009676,Rare genetic disease +GARD:0002003,GARD:0022531,GARD:0020388,GARD:0008574,Rare genetic disease +GARD:0002004,GARD:0022531,GARD:0002320,,Rare genetic disease +GARD:0002004,GARD:0022522,GARD:0002320,,Rare hematologic disease +GARD:0002005,GARD:0022536,GARD:0009325,GARD:0019162,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002005,GARD:0022535,GARD:0009325,GARD:0019162,Rare neoplastic disease +GARD:0002007,GARD:0022513,GARD:0010905,,Rare developmental defect during embryogenesis +GARD:0002007,GARD:0022523,GARD:0010905,,Rare immune disease +GARD:0002007,GARD:0022522,GARD:0010905,,Rare hematologic disease +GARD:0002007,GARD:0022510,GARD:0010905,,Rare skin disease +GARD:0002007,GARD:0022531,GARD:0010905,,Rare genetic disease +GARD:0002007,GARD:0022535,GARD:0010905,,Rare neoplastic disease +GARD:0002007,GARD:0022520,GARD:0010905,,Rare ophthalmic disorder +GARD:0002007,GARD:0022536,GARD:0010905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002007,GARD:0022524,GARD:0010905,,Rare neurologic disease +GARD:0002009,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0002009,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0002009,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0002009,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0002012,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0002012,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0002012,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002012,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0002013,GARD:0022511,GARD:0016620,,Rare bone disease +GARD:0002013,GARD:0022513,GARD:0016620,,Rare developmental defect during embryogenesis +GARD:0002013,GARD:0022524,GARD:0016620,,Rare neurologic disease +GARD:0002013,GARD:0022531,GARD:0016620,,Rare genetic disease +GARD:0002015,GARD:0022511,GARD:0019194,,Rare bone disease +GARD:0002015,GARD:0022513,GARD:0019194,,Rare developmental defect during embryogenesis +GARD:0002015,GARD:0022531,GARD:0019194,,Rare genetic disease +GARD:0002016,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0002016,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0002016,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0002019,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0002019,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0002019,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0002022,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0002022,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0002022,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0002026,GARD:0022531,GARD:0022094,,Rare genetic disease +GARD:0002026,GARD:0022531,GARD:0019189,,Rare genetic disease +GARD:0002026,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0002026,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0002026,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0002026,GARD:0022520,GARD:0022094,,Rare ophthalmic disorder +GARD:0002027,GARD:0022524,GARD:0021618,GARD:0009631,Rare neurologic disease +GARD:0002027,GARD:0022524,GARD:0021618,GARD:0015061,Rare neurologic disease +GARD:0002027,GARD:0022531,GARD:0021618,GARD:0015061,Rare genetic disease +GARD:0002027,GARD:0022531,GARD:0021618,GARD:0009631,Rare genetic disease +GARD:0002028,GARD:0022524,GARD:0018749,,Rare neurologic disease +GARD:0002028,GARD:0022531,GARD:0018749,,Rare genetic disease +GARD:0002031,GARD:0022531,GARD:0020388,GARD:0020350,Rare genetic disease +GARD:0002031,GARD:0022531,GARD:0020388,GARD:0005900,Rare genetic disease +GARD:0002031,GARD:0022531,GARD:0020388,GARD:0006291,Rare genetic disease +GARD:0002031,GARD:0022531,GARD:0020388,GARD:0002905,Rare genetic disease +GARD:0002031,GARD:0022531,GARD:0020388,GARD:0020356,Rare genetic disease +GARD:0002033,GARD:0022524,GARD:0021450,GARD:0016163,Rare neurologic disease +GARD:0002033,GARD:0022531,GARD:0020301,GARD:0016163,Rare genetic disease +GARD:0002033,GARD:0022531,GARD:0019197,GARD:0015710,Rare genetic disease +GARD:0002033,GARD:0022531,GARD:0020301,GARD:0016181,Rare genetic disease +GARD:0002033,GARD:0022531,GARD:0019209,GARD:0016181,Rare genetic disease +GARD:0002033,GARD:0022511,GARD:0019209,GARD:0016163,Rare bone disease +GARD:0002033,GARD:0022531,GARD:0021450,GARD:0015708,Rare genetic disease +GARD:0002033,GARD:0022524,GARD:0021450,GARD:0015708,Rare neurologic disease +GARD:0002033,GARD:0022531,GARD:0020301,GARD:0015710,Rare genetic disease +GARD:0002033,GARD:0022513,GARD:0019197,GARD:0015162,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022531,GARD:0019197,GARD:0016163,Rare genetic disease +GARD:0002033,GARD:0022531,GARD:0020301,GARD:0015162,Rare genetic disease +GARD:0002033,GARD:0022511,GARD:0019197,GARD:0015712,Rare bone disease +GARD:0002033,GARD:0022531,GARD:0019197,GARD:0015711,Rare genetic disease +GARD:0002033,GARD:0022531,GARD:0019197,GARD:0015162,Rare genetic disease +GARD:0002033,GARD:0022524,GARD:0021450,GARD:0015162,Rare neurologic disease +GARD:0002033,GARD:0022511,GARD:0019209,GARD:0015712,Rare bone disease +GARD:0002033,GARD:0022531,GARD:0019209,GARD:0015708,Rare genetic disease +GARD:0002033,GARD:0022513,GARD:0019907,GARD:0015710,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022513,GARD:0019197,GARD:0016163,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022513,GARD:0019197,GARD:0015710,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022531,GARD:0021450,GARD:0016163,Rare genetic disease +GARD:0002033,GARD:0022524,GARD:0021450,GARD:0016181,Rare neurologic disease +GARD:0002033,GARD:0022513,GARD:0019209,GARD:0015708,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022513,GARD:0021450,GARD:0015711,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022513,GARD:0021450,GARD:0015162,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022513,GARD:0019907,GARD:0015711,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022513,GARD:0019209,GARD:0015711,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022511,GARD:0019209,GARD:0015711,Rare bone disease +GARD:0002033,GARD:0022531,GARD:0019209,GARD:0015162,Rare genetic disease +GARD:0002033,GARD:0022513,GARD:0021450,GARD:0015708,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022511,GARD:0019197,GARD:0016163,Rare bone disease +GARD:0002033,GARD:0022511,GARD:0019209,GARD:0015162,Rare bone disease +GARD:0002033,GARD:0022513,GARD:0019209,GARD:0016181,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022513,GARD:0019209,GARD:0016163,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022531,GARD:0021450,GARD:0015162,Rare genetic disease +GARD:0002033,GARD:0022511,GARD:0019209,GARD:0015708,Rare bone disease +GARD:0002033,GARD:0022513,GARD:0019907,GARD:0015712,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022531,GARD:0020301,GARD:0015712,Rare genetic disease +GARD:0002033,GARD:0022513,GARD:0019209,GARD:0015162,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022511,GARD:0019197,GARD:0016181,Rare bone disease +GARD:0002033,GARD:0022511,GARD:0019209,GARD:0016181,Rare bone disease +GARD:0002033,GARD:0022531,GARD:0019197,GARD:0016181,Rare genetic disease +GARD:0002033,GARD:0022511,GARD:0019197,GARD:0015708,Rare bone disease +GARD:0002033,GARD:0022531,GARD:0019197,GARD:0015712,Rare genetic disease +GARD:0002033,GARD:0022531,GARD:0021450,GARD:0015711,Rare genetic disease +GARD:0002033,GARD:0022513,GARD:0019197,GARD:0016181,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022524,GARD:0021450,GARD:0015711,Rare neurologic disease +GARD:0002033,GARD:0022531,GARD:0019197,GARD:0015708,Rare genetic disease +GARD:0002033,GARD:0022531,GARD:0021450,GARD:0015712,Rare genetic disease +GARD:0002033,GARD:0022531,GARD:0020301,GARD:0015708,Rare genetic disease +GARD:0002033,GARD:0022513,GARD:0021450,GARD:0015712,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022511,GARD:0019197,GARD:0015711,Rare bone disease +GARD:0002033,GARD:0022524,GARD:0021450,GARD:0015710,Rare neurologic disease +GARD:0002033,GARD:0022513,GARD:0021450,GARD:0015710,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022513,GARD:0019209,GARD:0015712,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022531,GARD:0021450,GARD:0015710,Rare genetic disease +GARD:0002033,GARD:0022513,GARD:0019907,GARD:0015708,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022513,GARD:0019907,GARD:0015162,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022513,GARD:0021450,GARD:0016163,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022531,GARD:0019209,GARD:0016163,Rare genetic disease +GARD:0002033,GARD:0022511,GARD:0019197,GARD:0015162,Rare bone disease +GARD:0002033,GARD:0022511,GARD:0019209,GARD:0015710,Rare bone disease +GARD:0002033,GARD:0022531,GARD:0021450,GARD:0016181,Rare genetic disease +GARD:0002033,GARD:0022513,GARD:0019197,GARD:0015711,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022513,GARD:0021450,GARD:0016181,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022524,GARD:0021450,GARD:0015712,Rare neurologic disease +GARD:0002033,GARD:0022531,GARD:0019209,GARD:0015712,Rare genetic disease +GARD:0002033,GARD:0022531,GARD:0019209,GARD:0015711,Rare genetic disease +GARD:0002033,GARD:0022513,GARD:0019197,GARD:0015708,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022531,GARD:0020301,GARD:0015711,Rare genetic disease +GARD:0002033,GARD:0022513,GARD:0019907,GARD:0016163,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022531,GARD:0019209,GARD:0015710,Rare genetic disease +GARD:0002033,GARD:0022513,GARD:0019197,GARD:0015712,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022513,GARD:0019209,GARD:0015710,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022513,GARD:0019907,GARD:0016181,Rare developmental defect during embryogenesis +GARD:0002033,GARD:0022511,GARD:0019197,GARD:0015710,Rare bone disease +GARD:0002035,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0002044,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002044,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002044,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0002044,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0002044,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0002044,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002045,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0002045,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0002045,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0002045,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0002045,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0002045,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0002048,GARD:0022531,GARD:0000076,GARD:0018591,Rare genetic disease +GARD:0002048,GARD:0022510,GARD:0000076,GARD:0018591,Rare skin disease +GARD:0002048,GARD:0022513,GARD:0000076,GARD:0018593,Rare developmental defect during embryogenesis +GARD:0002048,GARD:0022526,GARD:0000076,GARD:0018593,Rare odontologic disease +GARD:0002048,GARD:0022510,GARD:0000076,GARD:0018593,Rare skin disease +GARD:0002048,GARD:0022520,GARD:0000076,GARD:0018592,Rare ophthalmic disorder +GARD:0002048,GARD:0022520,GARD:0000076,GARD:0018593,Rare ophthalmic disorder +GARD:0002048,GARD:0022526,GARD:0000076,GARD:0018592,Rare odontologic disease +GARD:0002048,GARD:0022520,GARD:0000076,GARD:0018591,Rare ophthalmic disorder +GARD:0002048,GARD:0022531,GARD:0000076,GARD:0018592,Rare genetic disease +GARD:0002048,GARD:0022531,GARD:0000076,GARD:0018593,Rare genetic disease +GARD:0002048,GARD:0022526,GARD:0000076,GARD:0018591,Rare odontologic disease +GARD:0002048,GARD:0022510,GARD:0000076,GARD:0018592,Rare skin disease +GARD:0002048,GARD:0022513,GARD:0000076,GARD:0018591,Rare developmental defect during embryogenesis +GARD:0002048,GARD:0022513,GARD:0000076,GARD:0018592,Rare developmental defect during embryogenesis +GARD:0002049,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0002049,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0002049,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0002049,GARD:0022521,GARD:0020137,,Rare endocrine disease +GARD:0002049,GARD:0022531,GARD:0020137,,Rare genetic disease +GARD:0002055,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0002055,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0002055,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0002055,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0002055,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0002055,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0002056,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0002056,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0002056,GARD:0022510,GARD:0019448,,Rare skin disease +GARD:0002056,GARD:0022531,GARD:0019448,,Rare genetic disease +GARD:0002056,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0002056,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0002056,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0002057,GARD:0022510,GARD:0000076,GARD:0015163,Rare skin disease +GARD:0002057,GARD:0022531,GARD:0000076,GARD:0015885,Rare genetic disease +GARD:0002057,GARD:0022520,GARD:0000076,GARD:0015163,Rare ophthalmic disorder +GARD:0002057,GARD:0022526,GARD:0000076,GARD:0016361,Rare odontologic disease +GARD:0002057,GARD:0022510,GARD:0000076,GARD:0016361,Rare skin disease +GARD:0002057,GARD:0022531,GARD:0000076,GARD:0016361,Rare genetic disease +GARD:0002057,GARD:0022526,GARD:0000076,GARD:0015163,Rare odontologic disease +GARD:0002057,GARD:0022531,GARD:0000076,GARD:0015163,Rare genetic disease +GARD:0002057,GARD:0022513,GARD:0000076,GARD:0015163,Rare developmental defect during embryogenesis +GARD:0002057,GARD:0022510,GARD:0000076,GARD:0015885,Rare skin disease +GARD:0002057,GARD:0022520,GARD:0000076,GARD:0016361,Rare ophthalmic disorder +GARD:0002057,GARD:0022513,GARD:0000076,GARD:0016361,Rare developmental defect during embryogenesis +GARD:0002057,GARD:0022513,GARD:0000076,GARD:0015885,Rare developmental defect during embryogenesis +GARD:0002057,GARD:0022520,GARD:0000076,GARD:0015885,Rare ophthalmic disorder +GARD:0002057,GARD:0022526,GARD:0000076,GARD:0015885,Rare odontologic disease +GARD:0002060,GARD:0022525,GARD:0012251,,Rare systemic or rheumatologic disease +GARD:0002060,GARD:0022513,GARD:0012251,,Rare developmental defect during embryogenesis +GARD:0002060,GARD:0022520,GARD:0012251,,Rare ophthalmic disorder +GARD:0002060,GARD:0022531,GARD:0012251,,Rare genetic disease +GARD:0002068,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0002068,GARD:0022513,GARD:0022030,,Rare developmental defect during embryogenesis +GARD:0002068,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0002068,GARD:0022531,GARD:0022030,,Rare genetic disease +GARD:0002068,GARD:0022511,GARD:0022030,,Rare bone disease +GARD:0002068,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0002071,GARD:0022510,GARD:0006317,GARD:0016244,Rare skin disease +GARD:0002071,GARD:0022531,GARD:0021507,GARD:0016244,Rare genetic disease +GARD:0002071,GARD:0022513,GARD:0006317,GARD:0016244,Rare developmental defect during embryogenesis +GARD:0002071,GARD:0022507,GARD:0019908,GARD:0016244,Rare maxillo-facial surgical disease +GARD:0002071,GARD:0022513,GARD:0019833,GARD:0016244,Rare developmental defect during embryogenesis +GARD:0002071,GARD:0022531,GARD:0020302,GARD:0016244,Rare genetic disease +GARD:0002071,GARD:0022531,GARD:0019502,GARD:0016244,Rare genetic disease +GARD:0002071,GARD:0022513,GARD:0019909,GARD:0016244,Rare developmental defect during embryogenesis +GARD:0002071,GARD:0022513,GARD:0019502,GARD:0016244,Rare developmental defect during embryogenesis +GARD:0002071,GARD:0022513,GARD:0019908,GARD:0016244,Rare developmental defect during embryogenesis +GARD:0002071,GARD:0022520,GARD:0019502,GARD:0016244,Rare ophthalmic disorder +GARD:0002071,GARD:0022531,GARD:0019908,GARD:0016244,Rare genetic disease +GARD:0002071,GARD:0022526,GARD:0019909,GARD:0016244,Rare odontologic disease +GARD:0002071,GARD:0022531,GARD:0006317,GARD:0016244,Rare genetic disease +GARD:0002071,GARD:0022528,GARD:0019908,GARD:0016244,Rare otorhinolaryngologic disease +GARD:0002074,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0002074,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0002076,GARD:0022528,GARD:0019998,GARD:0015063,Rare otorhinolaryngologic disease +GARD:0002076,GARD:0022513,GARD:0019512,GARD:0015063,Rare developmental defect during embryogenesis +GARD:0002076,GARD:0022511,GARD:0022030,GARD:0015063,Rare bone disease +GARD:0002076,GARD:0022513,GARD:0022030,GARD:0015063,Rare developmental defect during embryogenesis +GARD:0002076,GARD:0022512,GARD:0019218,GARD:0015063,Rare renal disease +GARD:0002076,GARD:0022510,GARD:0019512,GARD:0015063,Rare skin disease +GARD:0002076,GARD:0022513,GARD:0019998,GARD:0015063,Rare developmental defect during embryogenesis +GARD:0002076,GARD:0022531,GARD:0022030,GARD:0015063,Rare genetic disease +GARD:0002076,GARD:0022513,GARD:0019218,GARD:0015063,Rare developmental defect during embryogenesis +GARD:0002076,GARD:0022531,GARD:0022175,GARD:0015063,Rare genetic disease +GARD:0002076,GARD:0022536,GARD:0019218,GARD:0015063,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002076,GARD:0022531,GARD:0019512,GARD:0015063,Rare genetic disease +GARD:0002076,GARD:0022520,GARD:0019512,GARD:0015063,Rare ophthalmic disorder +GARD:0002076,GARD:0022531,GARD:0019218,GARD:0015063,Rare genetic disease +GARD:0002076,GARD:0022531,GARD:0019998,GARD:0015063,Rare genetic disease +GARD:0002076,GARD:0022520,GARD:0022090,GARD:0015063,Rare ophthalmic disorder +GARD:0002076,GARD:0022507,GARD:0019998,GARD:0015063,Rare maxillo-facial surgical disease +GARD:0002078,GARD:0022531,GARD:0022030,,Rare genetic disease +GARD:0002078,GARD:0022531,GARD:0022107,,Rare genetic disease +GARD:0002078,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0002078,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0002078,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0002078,GARD:0022513,GARD:0022030,,Rare developmental defect during embryogenesis +GARD:0002078,GARD:0022520,GARD:0022107,,Rare ophthalmic disorder +GARD:0002078,GARD:0022511,GARD:0022030,,Rare bone disease +GARD:0002081,GARD:0022510,GARD:0006322,,Rare skin disease +GARD:0002081,GARD:0022513,GARD:0006322,,Rare developmental defect during embryogenesis +GARD:0002081,GARD:0022531,GARD:0006322,,Rare genetic disease +GARD:0002081,GARD:0022525,GARD:0006322,,Rare systemic or rheumatologic disease +GARD:0002082,GARD:0022513,GARD:0006322,,Rare developmental defect during embryogenesis +GARD:0002082,GARD:0022531,GARD:0006322,,Rare genetic disease +GARD:0002082,GARD:0022510,GARD:0006322,,Rare skin disease +GARD:0002082,GARD:0022531,GARD:0021130,,Rare genetic disease +GARD:0002082,GARD:0022518,GARD:0021130,,Rare surgical thoracic disease +GARD:0002082,GARD:0022525,GARD:0006322,,Rare systemic or rheumatologic disease +GARD:0002082,GARD:0022527,GARD:0021130,,Rare circulatory system disease +GARD:0002083,GARD:0022510,GARD:0006322,GARD:0017361,Rare skin disease +GARD:0002083,GARD:0022510,GARD:0006322,GARD:0022216,Rare skin disease +GARD:0002083,GARD:0022531,GARD:0006322,GARD:0022216,Rare genetic disease +GARD:0002083,GARD:0022525,GARD:0006322,GARD:0022216,Rare systemic or rheumatologic disease +GARD:0002083,GARD:0022513,GARD:0006322,GARD:0022216,Rare developmental defect during embryogenesis +GARD:0002083,GARD:0022513,GARD:0006322,GARD:0017361,Rare developmental defect during embryogenesis +GARD:0002083,GARD:0022525,GARD:0006322,GARD:0017361,Rare systemic or rheumatologic disease +GARD:0002083,GARD:0022531,GARD:0006322,GARD:0017361,Rare genetic disease +GARD:0002084,GARD:0022525,GARD:0006322,GARD:0016256,Rare systemic or rheumatologic disease +GARD:0002084,GARD:0022531,GARD:0006322,GARD:0016256,Rare genetic disease +GARD:0002084,GARD:0022513,GARD:0006322,GARD:0016256,Rare developmental defect during embryogenesis +GARD:0002084,GARD:0022510,GARD:0006322,GARD:0016256,Rare skin disease +GARD:0002088,GARD:0022525,GARD:0006322,,Rare systemic or rheumatologic disease +GARD:0002088,GARD:0022531,GARD:0006322,,Rare genetic disease +GARD:0002088,GARD:0022510,GARD:0006322,,Rare skin disease +GARD:0002088,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0002088,GARD:0022531,GARD:0020095,,Rare genetic disease +GARD:0002088,GARD:0022526,GARD:0020095,,Rare odontologic disease +GARD:0002088,GARD:0022518,GARD:0020212,,Rare surgical thoracic disease +GARD:0002088,GARD:0022513,GARD:0006322,,Rare developmental defect during embryogenesis +GARD:0002088,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0002089,GARD:0022525,GARD:0006322,,Rare systemic or rheumatologic disease +GARD:0002089,GARD:0022513,GARD:0006322,,Rare developmental defect during embryogenesis +GARD:0002089,GARD:0022531,GARD:0006322,,Rare genetic disease +GARD:0002089,GARD:0022510,GARD:0006322,,Rare skin disease +GARD:0002092,GARD:0022509,GARD:0019827,,Rare infectious disease +GARD:0002096,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0002096,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0002096,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0002098,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002098,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002098,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0002098,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0002098,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0002102,GARD:0022531,GARD:0020435,,Rare genetic disease +GARD:0002102,GARD:0022524,GARD:0006329,,Rare neurologic disease +GARD:0002102,GARD:0022515,GARD:0006329,,Rare cardiac disease +GARD:0002102,GARD:0022536,GARD:0006329,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002102,GARD:0022531,GARD:0006329,,Rare genetic disease +GARD:0002104,GARD:0022513,GARD:0019867,,Rare developmental defect during embryogenesis +GARD:0002104,GARD:0022518,GARD:0019867,,Rare surgical thoracic disease +GARD:0002104,GARD:0022531,GARD:0020311,,Rare genetic disease +GARD:0002104,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0002104,GARD:0022531,GARD:0019867,,Rare genetic disease +GARD:0002108,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0002108,GARD:0022531,GARD:0020275,,Rare genetic disease +GARD:0002108,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0002113,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002113,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002113,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002123,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0002123,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0002125,GARD:0022531,GARD:0020370,,Rare genetic disease +GARD:0002125,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0002125,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0002125,GARD:0022524,GARD:0020370,,Rare neurologic disease +GARD:0002130,GARD:0022509,GARD:0020626,,Rare infectious disease +GARD:0002130,GARD:0022513,GARD:0020626,,Rare developmental defect during embryogenesis +GARD:0002130,GARD:0022505,GARD:0020626,,Rare teratologic disease +GARD:0002137,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0002137,GARD:0022531,GARD:0020437,,Rare genetic disease +GARD:0002137,GARD:0022524,GARD:0020360,,Rare neurologic disease +GARD:0002137,GARD:0022531,GARD:0020360,,Rare genetic disease +GARD:0002137,GARD:0022510,GARD:0022387,,Rare skin disease +GARD:0002137,GARD:0022520,GARD:0022090,,Rare ophthalmic disorder +GARD:0002137,GARD:0022531,GARD:0022175,,Rare genetic disease +GARD:0002137,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0002137,GARD:0022531,GARD:0022387,,Rare genetic disease +GARD:0002139,GARD:0022510,GARD:0002150,,Rare skin disease +GARD:0002139,GARD:0022531,GARD:0002150,,Rare genetic disease +GARD:0002139,GARD:0022513,GARD:0002150,,Rare developmental defect during embryogenesis +GARD:0002141,GARD:0022510,GARD:0022386,,Rare skin disease +GARD:0002141,GARD:0022531,GARD:0022386,,Rare genetic disease +GARD:0002143,GARD:0022531,GARD:0002152,,Rare genetic disease +GARD:0002143,GARD:0022510,GARD:0002152,,Rare skin disease +GARD:0002143,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0002143,GARD:0022513,GARD:0002152,,Rare developmental defect during embryogenesis +GARD:0002146,GARD:0022531,GARD:0022386,,Rare genetic disease +GARD:0002146,GARD:0022510,GARD:0022386,,Rare skin disease +GARD:0002147,GARD:0022531,GARD:0022386,,Rare genetic disease +GARD:0002147,GARD:0022510,GARD:0022386,,Rare skin disease +GARD:0002148,GARD:0022510,GARD:0022386,,Rare skin disease +GARD:0002148,GARD:0022531,GARD:0022386,,Rare genetic disease +GARD:0002150,GARD:0022531,GARD:0019904,GARD:0002139,Rare genetic disease +GARD:0002150,GARD:0022510,GARD:0018992,GARD:0016720,Rare skin disease +GARD:0002150,GARD:0022531,GARD:0018992,GARD:0010010,Rare genetic disease +GARD:0002150,GARD:0022513,GARD:0019904,GARD:0006308,Rare developmental defect during embryogenesis +GARD:0002150,GARD:0022531,GARD:0019904,GARD:0016779,Rare genetic disease +GARD:0002150,GARD:0022531,GARD:0019904,GARD:0010010,Rare genetic disease +GARD:0002150,GARD:0022513,GARD:0019904,GARD:0002139,Rare developmental defect during embryogenesis +GARD:0002150,GARD:0022510,GARD:0018992,GARD:0022388,Rare skin disease +GARD:0002150,GARD:0022510,GARD:0018992,GARD:0010010,Rare skin disease +GARD:0002150,GARD:0022531,GARD:0018992,GARD:0002139,Rare genetic disease +GARD:0002150,GARD:0022513,GARD:0019904,GARD:0022388,Rare developmental defect during embryogenesis +GARD:0002150,GARD:0022531,GARD:0019904,GARD:0012794,Rare genetic disease +GARD:0002150,GARD:0022531,GARD:0019904,GARD:0016720,Rare genetic disease +GARD:0002150,GARD:0022531,GARD:0018992,GARD:0012794,Rare genetic disease +GARD:0002150,GARD:0022513,GARD:0019904,GARD:0010010,Rare developmental defect during embryogenesis +GARD:0002150,GARD:0022531,GARD:0019904,GARD:0006308,Rare genetic disease +GARD:0002150,GARD:0022531,GARD:0019904,GARD:0022388,Rare genetic disease +GARD:0002150,GARD:0022513,GARD:0019904,GARD:0012794,Rare developmental defect during embryogenesis +GARD:0002150,GARD:0022513,GARD:0019904,GARD:0016779,Rare developmental defect during embryogenesis +GARD:0002150,GARD:0022510,GARD:0018992,GARD:0002139,Rare skin disease +GARD:0002150,GARD:0022510,GARD:0018992,GARD:0006308,Rare skin disease +GARD:0002150,GARD:0022531,GARD:0018992,GARD:0016779,Rare genetic disease +GARD:0002150,GARD:0022510,GARD:0018992,GARD:0016779,Rare skin disease +GARD:0002150,GARD:0022510,GARD:0018992,GARD:0012794,Rare skin disease +GARD:0002150,GARD:0022513,GARD:0019904,GARD:0016720,Rare developmental defect during embryogenesis +GARD:0002150,GARD:0022531,GARD:0018992,GARD:0006308,Rare genetic disease +GARD:0002150,GARD:0022531,GARD:0018992,GARD:0022388,Rare genetic disease +GARD:0002150,GARD:0022531,GARD:0018992,GARD:0016720,Rare genetic disease +GARD:0002152,GARD:0022513,GARD:0019904,GARD:0000299,Rare developmental defect during embryogenesis +GARD:0002152,GARD:0022513,GARD:0019904,GARD:0002143,Rare developmental defect during embryogenesis +GARD:0002152,GARD:0022510,GARD:0018992,GARD:0000299,Rare skin disease +GARD:0002152,GARD:0022513,GARD:0019904,GARD:0012922,Rare developmental defect during embryogenesis +GARD:0002152,GARD:0022513,GARD:0019904,GARD:0017377,Rare developmental defect during embryogenesis +GARD:0002152,GARD:0022510,GARD:0018992,GARD:0012923,Rare skin disease +GARD:0002152,GARD:0022531,GARD:0019904,GARD:0000299,Rare genetic disease +GARD:0002152,GARD:0022510,GARD:0018992,GARD:0012922,Rare skin disease +GARD:0002152,GARD:0022510,GARD:0018992,GARD:0002143,Rare skin disease +GARD:0002152,GARD:0022531,GARD:0018992,GARD:0012922,Rare genetic disease +GARD:0002152,GARD:0022531,GARD:0018992,GARD:0012923,Rare genetic disease +GARD:0002152,GARD:0022510,GARD:0018992,GARD:0000368,Rare skin disease +GARD:0002152,GARD:0022510,GARD:0018992,GARD:0002153,Rare skin disease +GARD:0002152,GARD:0022510,GARD:0018992,GARD:0012921,Rare skin disease +GARD:0002152,GARD:0022531,GARD:0018992,GARD:0017377,Rare genetic disease +GARD:0002152,GARD:0022531,GARD:0019904,GARD:0009694,Rare genetic disease +GARD:0002152,GARD:0022510,GARD:0018992,GARD:0017377,Rare skin disease +GARD:0002152,GARD:0022510,GARD:0018992,GARD:0009694,Rare skin disease +GARD:0002152,GARD:0022531,GARD:0019904,GARD:0002143,Rare genetic disease +GARD:0002152,GARD:0022531,GARD:0019904,GARD:0012922,Rare genetic disease +GARD:0002152,GARD:0022531,GARD:0019904,GARD:0000368,Rare genetic disease +GARD:0002152,GARD:0022513,GARD:0019904,GARD:0012923,Rare developmental defect during embryogenesis +GARD:0002152,GARD:0022531,GARD:0018992,GARD:0000368,Rare genetic disease +GARD:0002152,GARD:0022513,GARD:0019904,GARD:0000368,Rare developmental defect during embryogenesis +GARD:0002152,GARD:0022531,GARD:0018992,GARD:0002143,Rare genetic disease +GARD:0002152,GARD:0022531,GARD:0018992,GARD:0012921,Rare genetic disease +GARD:0002152,GARD:0022513,GARD:0019904,GARD:0012921,Rare developmental defect during embryogenesis +GARD:0002152,GARD:0022531,GARD:0018992,GARD:0009694,Rare genetic disease +GARD:0002152,GARD:0022531,GARD:0019904,GARD:0012923,Rare genetic disease +GARD:0002152,GARD:0022513,GARD:0019904,GARD:0009694,Rare developmental defect during embryogenesis +GARD:0002152,GARD:0022513,GARD:0019904,GARD:0002153,Rare developmental defect during embryogenesis +GARD:0002152,GARD:0022531,GARD:0019904,GARD:0012921,Rare genetic disease +GARD:0002152,GARD:0022531,GARD:0019904,GARD:0017377,Rare genetic disease +GARD:0002152,GARD:0022531,GARD:0018992,GARD:0000299,Rare genetic disease +GARD:0002152,GARD:0022531,GARD:0018992,GARD:0002153,Rare genetic disease +GARD:0002152,GARD:0022531,GARD:0019904,GARD:0002153,Rare genetic disease +GARD:0002153,GARD:0022531,GARD:0002152,,Rare genetic disease +GARD:0002153,GARD:0022520,GARD:0022090,,Rare ophthalmic disorder +GARD:0002153,GARD:0022531,GARD:0022175,,Rare genetic disease +GARD:0002153,GARD:0022510,GARD:0002152,,Rare skin disease +GARD:0002153,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0002153,GARD:0022513,GARD:0002152,,Rare developmental defect during embryogenesis +GARD:0002155,GARD:0022510,GARD:0022388,,Rare skin disease +GARD:0002155,GARD:0022531,GARD:0022388,,Rare genetic disease +GARD:0002155,GARD:0022513,GARD:0022388,,Rare developmental defect during embryogenesis +GARD:0002162,GARD:0022531,GARD:0002173,,Rare genetic disease +GARD:0002162,GARD:0022524,GARD:0002173,,Rare neurologic disease +GARD:0002166,GARD:0022524,GARD:0020090,,Rare neurologic disease +GARD:0002167,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0002167,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0002167,GARD:0022508,GARD:0009447,,Rare inborn errors of metabolism +GARD:0002167,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0002167,GARD:0022524,GARD:0009447,,Rare neurologic disease +GARD:0002167,GARD:0022531,GARD:0009447,,Rare genetic disease +GARD:0002167,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0002167,GARD:0022520,GARD:0009447,,Rare ophthalmic disorder +GARD:0002168,GARD:0022531,GARD:0020083,,Rare genetic disease +GARD:0002168,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002168,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002168,GARD:0022524,GARD:0020083,,Rare neurologic disease +GARD:0002168,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002169,GARD:0022531,GARD:0022440,GARD:0016367,Rare genetic disease +GARD:0002169,GARD:0022524,GARD:0022440,GARD:0016108,Rare neurologic disease +GARD:0002169,GARD:0022531,GARD:0019437,GARD:0016367,Rare genetic disease +GARD:0002169,GARD:0022524,GARD:0022440,GARD:0013197,Rare neurologic disease +GARD:0002169,GARD:0022531,GARD:0019437,GARD:0016108,Rare genetic disease +GARD:0002169,GARD:0022531,GARD:0022440,GARD:0013197,Rare genetic disease +GARD:0002169,GARD:0022531,GARD:0022440,GARD:0016108,Rare genetic disease +GARD:0002169,GARD:0022524,GARD:0019437,GARD:0016108,Rare neurologic disease +GARD:0002169,GARD:0022531,GARD:0019437,GARD:0013197,Rare genetic disease +GARD:0002169,GARD:0022524,GARD:0022440,GARD:0016367,Rare neurologic disease +GARD:0002169,GARD:0022524,GARD:0019437,GARD:0016367,Rare neurologic disease +GARD:0002169,GARD:0022524,GARD:0019437,GARD:0013197,Rare neurologic disease +GARD:0002170,GARD:0022524,GARD:0019437,GARD:0019582,Rare neurologic disease +GARD:0002170,GARD:0022531,GARD:0019437,GARD:0019582,Rare genetic disease +GARD:0002170,GARD:0022524,GARD:0019437,GARD:0019581,Rare neurologic disease +GARD:0002170,GARD:0022531,GARD:0019437,GARD:0019581,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0020242,GARD:0017001,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0020087,GARD:0011918,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0020242,GARD:0005135,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0019438,GARD:0011918,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0020087,GARD:0016667,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0020087,GARD:0010287,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0020242,GARD:0013295,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0019437,GARD:0018641,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0020242,GARD:0006808,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0020242,GARD:0017001,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0020087,GARD:0002162,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0020087,GARD:0006808,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019437,GARD:0002257,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0020087,GARD:0017011,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0020242,GARD:0018641,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0019437,GARD:0013295,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0020242,GARD:0016704,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0020242,GARD:0011918,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0020242,GARD:0017011,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019437,GARD:0006808,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0019438,GARD:0010287,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0020087,GARD:0017001,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0019438,GARD:0016704,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0020242,GARD:0005135,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019437,GARD:0017011,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0020087,GARD:0019684,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0020242,GARD:0010287,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0020087,GARD:0017011,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019437,GARD:0005135,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0019438,GARD:0018641,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0019438,GARD:0016704,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0020242,GARD:0002257,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0019437,GARD:0013295,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0020242,GARD:0016667,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0020087,GARD:0013295,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0020242,GARD:0018641,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019438,GARD:0002162,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0019437,GARD:0002257,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0019438,GARD:0011918,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0019438,GARD:0016667,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0020087,GARD:0017001,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0019438,GARD:0006808,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0019437,GARD:0016667,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0019437,GARD:0006808,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019437,GARD:0011918,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0020242,GARD:0010287,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0019437,GARD:0010287,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019437,GARD:0016704,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0020242,GARD:0002162,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0019438,GARD:0006808,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0020087,GARD:0010287,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0019438,GARD:0018641,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0020242,GARD:0019684,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019437,GARD:0018641,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0019438,GARD:0013295,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0019437,GARD:0017001,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0019438,GARD:0005135,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0019437,GARD:0016704,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0020087,GARD:0002162,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0019437,GARD:0019684,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0019437,GARD:0011918,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0019438,GARD:0010287,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0020087,GARD:0002257,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0019437,GARD:0019684,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0020242,GARD:0006808,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0019438,GARD:0002257,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0019438,GARD:0019684,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019438,GARD:0019684,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0020242,GARD:0016667,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019437,GARD:0016667,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0020242,GARD:0017011,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0019438,GARD:0017011,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0019438,GARD:0017011,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0019438,GARD:0002162,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0019437,GARD:0005135,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019437,GARD:0017001,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0020087,GARD:0005135,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0020087,GARD:0019684,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0020242,GARD:0002162,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0020242,GARD:0011918,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0020087,GARD:0018641,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0020087,GARD:0011918,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0020087,GARD:0018641,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019438,GARD:0005135,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0019438,GARD:0013295,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0020087,GARD:0016667,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0020087,GARD:0013295,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0020087,GARD:0005135,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0019438,GARD:0017001,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019437,GARD:0010287,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0020087,GARD:0016704,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0019437,GARD:0017011,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0020242,GARD:0013295,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019438,GARD:0017001,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0019437,GARD:0002162,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0020087,GARD:0006808,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0019438,GARD:0002257,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0020087,GARD:0016704,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0019438,GARD:0016667,Rare genetic disease +GARD:0002173,GARD:0022531,GARD:0019437,GARD:0002162,Rare genetic disease +GARD:0002173,GARD:0022524,GARD:0020242,GARD:0002257,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0020087,GARD:0002257,Rare neurologic disease +GARD:0002173,GARD:0022524,GARD:0020242,GARD:0016704,Rare neurologic disease +GARD:0002173,GARD:0022531,GARD:0020242,GARD:0019684,Rare genetic disease +GARD:0002178,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002178,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002178,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002180,GARD:0022511,GARD:0010756,,Rare bone disease +GARD:0002180,GARD:0022531,GARD:0010756,,Rare genetic disease +GARD:0002180,GARD:0022513,GARD:0010756,,Rare developmental defect during embryogenesis +GARD:0002188,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0002191,GARD:0022523,GARD:0017050,,Rare immune disease +GARD:0002191,GARD:0022531,GARD:0017050,,Rare genetic disease +GARD:0002192,GARD:0022531,GARD:0019013,,Rare genetic disease +GARD:0002192,GARD:0022510,GARD:0019013,,Rare skin disease +GARD:0002195,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0002195,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0002195,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0002197,GARD:0022524,GARD:0020718,,Rare neurologic disease +GARD:0002197,GARD:0022535,GARD:0020718,,Rare neoplastic disease +GARD:0002198,GARD:0022508,GARD:0020764,,Rare inborn errors of metabolism +GARD:0002198,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0002198,GARD:0022531,GARD:0020764,,Rare genetic disease +GARD:0002198,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0002202,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0002202,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0002202,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0002204,GARD:0022508,GARD:0007035,,Rare inborn errors of metabolism +GARD:0002204,GARD:0022511,GARD:0007035,,Rare bone disease +GARD:0002204,GARD:0022531,GARD:0007035,,Rare genetic disease +GARD:0002204,GARD:0022513,GARD:0007035,,Rare developmental defect during embryogenesis +GARD:0002204,GARD:0022535,GARD:0007035,,Rare neoplastic disease +GARD:0002205,GARD:0022511,GARD:0007035,,Rare bone disease +GARD:0002205,GARD:0022531,GARD:0007035,,Rare genetic disease +GARD:0002205,GARD:0022508,GARD:0007035,,Rare inborn errors of metabolism +GARD:0002205,GARD:0022535,GARD:0007035,,Rare neoplastic disease +GARD:0002205,GARD:0022513,GARD:0007035,,Rare developmental defect during embryogenesis +GARD:0002206,GARD:0022513,GARD:0007035,,Rare developmental defect during embryogenesis +GARD:0002206,GARD:0022508,GARD:0007035,,Rare inborn errors of metabolism +GARD:0002206,GARD:0022535,GARD:0007035,,Rare neoplastic disease +GARD:0002206,GARD:0022511,GARD:0007035,,Rare bone disease +GARD:0002206,GARD:0022531,GARD:0007035,,Rare genetic disease +GARD:0002207,GARD:0022532,GARD:0020253,GARD:0006398,Rare urogenital disease +GARD:0002207,GARD:0022512,GARD:0019217,GARD:0019235,Rare renal disease +GARD:0002207,GARD:0022513,GARD:0019217,GARD:0019235,Rare developmental defect during embryogenesis +GARD:0002207,GARD:0022513,GARD:0019863,GARD:0004080,Rare developmental defect during embryogenesis +GARD:0002207,GARD:0022531,GARD:0021540,GARD:0006398,Rare genetic disease +GARD:0002207,GARD:0022512,GARD:0019217,GARD:0004080,Rare renal disease +GARD:0002207,GARD:0022513,GARD:0020253,GARD:0019235,Rare developmental defect during embryogenesis +GARD:0002207,GARD:0022536,GARD:0019217,GARD:0004080,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002207,GARD:0022531,GARD:0021540,GARD:0019235,Rare genetic disease +GARD:0002207,GARD:0022531,GARD:0021540,GARD:0004080,Rare genetic disease +GARD:0002207,GARD:0022534,GARD:0019863,GARD:0019235,Rare abdominal surgical disease +GARD:0002207,GARD:0022513,GARD:0019217,GARD:0004080,Rare developmental defect during embryogenesis +GARD:0002207,GARD:0022532,GARD:0020253,GARD:0004080,Rare urogenital disease +GARD:0002207,GARD:0022534,GARD:0019863,GARD:0006398,Rare abdominal surgical disease +GARD:0002207,GARD:0022532,GARD:0020253,GARD:0019235,Rare urogenital disease +GARD:0002207,GARD:0022534,GARD:0019863,GARD:0004080,Rare abdominal surgical disease +GARD:0002207,GARD:0022536,GARD:0020253,GARD:0004080,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002207,GARD:0022513,GARD:0019863,GARD:0019235,Rare developmental defect during embryogenesis +GARD:0002207,GARD:0022536,GARD:0020253,GARD:0006398,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002207,GARD:0022513,GARD:0019217,GARD:0006398,Rare developmental defect during embryogenesis +GARD:0002207,GARD:0022513,GARD:0019863,GARD:0006398,Rare developmental defect during embryogenesis +GARD:0002207,GARD:0022536,GARD:0020253,GARD:0019235,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002207,GARD:0022536,GARD:0019217,GARD:0019235,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002207,GARD:0022536,GARD:0019217,GARD:0006398,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002207,GARD:0022512,GARD:0019217,GARD:0006398,Rare renal disease +GARD:0002207,GARD:0022513,GARD:0020253,GARD:0006398,Rare developmental defect during embryogenesis +GARD:0002207,GARD:0022513,GARD:0020253,GARD:0004080,Rare developmental defect during embryogenesis +GARD:0002213,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002213,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0002213,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0002213,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002213,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0002213,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0002213,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002216,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0002216,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0002216,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0002221,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002221,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002222,GARD:0022513,GARD:0021002,,Rare developmental defect during embryogenesis +GARD:0002222,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002222,GARD:0022524,GARD:0021002,,Rare neurologic disease +GARD:0002222,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002222,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002222,GARD:0022531,GARD:0021009,,Rare genetic disease +GARD:0002229,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0002229,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0002229,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0002229,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0002229,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0002230,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002230,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0002230,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002230,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0002230,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002230,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002230,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0002237,GARD:0022522,GARD:0018873,,Rare hematologic disease +GARD:0002237,GARD:0022531,GARD:0018873,,Rare genetic disease +GARD:0002238,GARD:0022522,GARD:0020121,,Rare hematologic disease +GARD:0002238,GARD:0022531,GARD:0020121,,Rare genetic disease +GARD:0002245,GARD:0022519,GARD:0008189,,Rare surgical cardiac disease +GARD:0002245,GARD:0022513,GARD:0008189,,Rare developmental defect during embryogenesis +GARD:0002249,GARD:0022518,GARD:0021130,GARD:0009876,Rare surgical thoracic disease +GARD:0002249,GARD:0022525,GARD:0021129,GARD:0012356,Rare systemic or rheumatologic disease +GARD:0002249,GARD:0022527,GARD:0021130,GARD:0016207,Rare circulatory system disease +GARD:0002249,GARD:0022525,GARD:0021129,GARD:0010588,Rare systemic or rheumatologic disease +GARD:0002249,GARD:0022531,GARD:0021130,GARD:0016067,Rare genetic disease +GARD:0002249,GARD:0022531,GARD:0021129,GARD:0010588,Rare genetic disease +GARD:0002249,GARD:0022531,GARD:0021129,GARD:0015408,Rare genetic disease +GARD:0002249,GARD:0022531,GARD:0021130,GARD:0010588,Rare genetic disease +GARD:0002249,GARD:0022531,GARD:0021130,GARD:0015408,Rare genetic disease +GARD:0002249,GARD:0022527,GARD:0021130,GARD:0012356,Rare circulatory system disease +GARD:0002249,GARD:0022531,GARD:0021130,GARD:0012356,Rare genetic disease +GARD:0002249,GARD:0022531,GARD:0021129,GARD:0015527,Rare genetic disease +GARD:0002249,GARD:0022531,GARD:0021129,GARD:0009876,Rare genetic disease +GARD:0002249,GARD:0022531,GARD:0021130,GARD:0015409,Rare genetic disease +GARD:0002249,GARD:0022525,GARD:0021129,GARD:0010586,Rare systemic or rheumatologic disease +GARD:0002249,GARD:0022531,GARD:0021129,GARD:0012356,Rare genetic disease +GARD:0002249,GARD:0022518,GARD:0021130,GARD:0010586,Rare surgical thoracic disease +GARD:0002249,GARD:0022527,GARD:0021130,GARD:0010586,Rare circulatory system disease +GARD:0002249,GARD:0022531,GARD:0021129,GARD:0015966,Rare genetic disease +GARD:0002249,GARD:0022531,GARD:0021129,GARD:0015409,Rare genetic disease +GARD:0002249,GARD:0022525,GARD:0021129,GARD:0015527,Rare systemic or rheumatologic disease +GARD:0002249,GARD:0022531,GARD:0021130,GARD:0015527,Rare genetic disease +GARD:0002249,GARD:0022531,GARD:0021129,GARD:0016207,Rare genetic disease +GARD:0002249,GARD:0022518,GARD:0021130,GARD:0015706,Rare surgical thoracic disease +GARD:0002249,GARD:0022525,GARD:0021129,GARD:0016207,Rare systemic or rheumatologic disease +GARD:0002249,GARD:0022525,GARD:0021129,GARD:0015409,Rare systemic or rheumatologic disease +GARD:0002249,GARD:0022518,GARD:0021130,GARD:0015409,Rare surgical thoracic disease +GARD:0002249,GARD:0022518,GARD:0021130,GARD:0015408,Rare surgical thoracic disease +GARD:0002249,GARD:0022527,GARD:0021130,GARD:0015966,Rare circulatory system disease +GARD:0002249,GARD:0022531,GARD:0021130,GARD:0010586,Rare genetic disease +GARD:0002249,GARD:0022531,GARD:0021129,GARD:0015706,Rare genetic disease +GARD:0002249,GARD:0022527,GARD:0021130,GARD:0015706,Rare circulatory system disease +GARD:0002249,GARD:0022527,GARD:0021130,GARD:0015527,Rare circulatory system disease +GARD:0002249,GARD:0022518,GARD:0021130,GARD:0015966,Rare surgical thoracic disease +GARD:0002249,GARD:0022525,GARD:0021129,GARD:0015408,Rare systemic or rheumatologic disease +GARD:0002249,GARD:0022518,GARD:0021130,GARD:0010588,Rare surgical thoracic disease +GARD:0002249,GARD:0022531,GARD:0021130,GARD:0016207,Rare genetic disease +GARD:0002249,GARD:0022527,GARD:0021130,GARD:0015408,Rare circulatory system disease +GARD:0002249,GARD:0022525,GARD:0021129,GARD:0015706,Rare systemic or rheumatologic disease +GARD:0002249,GARD:0022527,GARD:0021130,GARD:0015409,Rare circulatory system disease +GARD:0002249,GARD:0022525,GARD:0021129,GARD:0015966,Rare systemic or rheumatologic disease +GARD:0002249,GARD:0022531,GARD:0021130,GARD:0015706,Rare genetic disease +GARD:0002249,GARD:0022518,GARD:0021130,GARD:0016207,Rare surgical thoracic disease +GARD:0002249,GARD:0022531,GARD:0021129,GARD:0016067,Rare genetic disease +GARD:0002249,GARD:0022527,GARD:0021130,GARD:0010588,Rare circulatory system disease +GARD:0002249,GARD:0022531,GARD:0021130,GARD:0009876,Rare genetic disease +GARD:0002249,GARD:0022518,GARD:0021130,GARD:0015527,Rare surgical thoracic disease +GARD:0002249,GARD:0022527,GARD:0021130,GARD:0009876,Rare circulatory system disease +GARD:0002249,GARD:0022531,GARD:0021129,GARD:0010586,Rare genetic disease +GARD:0002249,GARD:0022518,GARD:0021130,GARD:0016067,Rare surgical thoracic disease +GARD:0002249,GARD:0022525,GARD:0021129,GARD:0016067,Rare systemic or rheumatologic disease +GARD:0002249,GARD:0022527,GARD:0021130,GARD:0016067,Rare circulatory system disease +GARD:0002249,GARD:0022531,GARD:0021130,GARD:0015966,Rare genetic disease +GARD:0002249,GARD:0022518,GARD:0021130,GARD:0012356,Rare surgical thoracic disease +GARD:0002249,GARD:0022525,GARD:0021129,GARD:0009876,Rare systemic or rheumatologic disease +GARD:0002250,GARD:0022531,GARD:0001904,,Rare genetic disease +GARD:0002250,GARD:0022524,GARD:0001904,,Rare neurologic disease +GARD:0002250,GARD:0022513,GARD:0001904,,Rare developmental defect during embryogenesis +GARD:0002252,GARD:0022531,GARD:0019272,GARD:0020140,Rare genetic disease +GARD:0002252,GARD:0022521,GARD:0019272,GARD:0019274,Rare endocrine disease +GARD:0002252,GARD:0022521,GARD:0019272,GARD:0020140,Rare endocrine disease +GARD:0002252,GARD:0022531,GARD:0019272,GARD:0019274,Rare genetic disease +GARD:0002254,GARD:0022528,GARD:0022528,,Rare otorhinolaryngologic disease +GARD:0002254,GARD:0022531,GARD:0021935,,Rare genetic disease +GARD:0002256,GARD:0022513,GARD:0022026,,Rare developmental defect during embryogenesis +GARD:0002256,GARD:0022511,GARD:0022026,,Rare bone disease +GARD:0002256,GARD:0022531,GARD:0022026,,Rare genetic disease +GARD:0002257,GARD:0022524,GARD:0002173,GARD:0016116,Rare neurologic disease +GARD:0002257,GARD:0022531,GARD:0002173,GARD:0016116,Rare genetic disease +GARD:0002257,GARD:0022531,GARD:0002173,GARD:0016112,Rare genetic disease +GARD:0002257,GARD:0022524,GARD:0002173,GARD:0016112,Rare neurologic disease +GARD:0002258,GARD:0022524,GARD:0021963,GARD:0015107,Rare neurologic disease +GARD:0002258,GARD:0022531,GARD:0021963,GARD:0015808,Rare genetic disease +GARD:0002258,GARD:0022524,GARD:0007430,GARD:0015808,Rare neurologic disease +GARD:0002258,GARD:0022513,GARD:0007430,GARD:0015808,Rare developmental defect during embryogenesis +GARD:0002258,GARD:0022531,GARD:0021963,GARD:0015107,Rare genetic disease +GARD:0002258,GARD:0022513,GARD:0007430,GARD:0015107,Rare developmental defect during embryogenesis +GARD:0002258,GARD:0022531,GARD:0007430,GARD:0015808,Rare genetic disease +GARD:0002258,GARD:0022524,GARD:0007430,GARD:0015107,Rare neurologic disease +GARD:0002258,GARD:0022531,GARD:0007430,GARD:0015107,Rare genetic disease +GARD:0002258,GARD:0022524,GARD:0021963,GARD:0015808,Rare neurologic disease +GARD:0002259,GARD:0022514,GARD:0020193,,Rare gynecologic or obstetric disease +GARD:0002268,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0002268,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0002268,GARD:0022531,GARD:0018957,,Rare genetic disease +GARD:0002268,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0002268,GARD:0022508,GARD:0018957,,Rare inborn errors of metabolism +GARD:0002268,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0002268,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0002268,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0002276,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002276,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002279,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0002279,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002279,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0002279,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0002279,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0002279,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0002279,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0002279,GARD:0022524,GARD:0020083,,Rare neurologic disease +GARD:0002279,GARD:0022531,GARD:0020083,,Rare genetic disease +GARD:0002285,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0002285,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0002285,GARD:0022511,GARD:0021187,,Rare bone disease +GARD:0002285,GARD:0022531,GARD:0021187,,Rare genetic disease +GARD:0002285,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0002285,GARD:0022513,GARD:0021187,,Rare developmental defect during embryogenesis +GARD:0002285,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0002285,GARD:0022513,GARD:0022030,,Rare developmental defect during embryogenesis +GARD:0002285,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0002285,GARD:0022511,GARD:0022030,,Rare bone disease +GARD:0002285,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0002285,GARD:0022531,GARD:0022030,,Rare genetic disease +GARD:0002286,GARD:0022511,GARD:0021187,,Rare bone disease +GARD:0002286,GARD:0022513,GARD:0021187,,Rare developmental defect during embryogenesis +GARD:0002286,GARD:0022531,GARD:0021187,,Rare genetic disease +GARD:0002287,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002287,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002287,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0002287,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002287,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0002293,GARD:0022531,GARD:0009634,,Rare genetic disease +GARD:0002293,GARD:0022513,GARD:0009634,,Rare developmental defect during embryogenesis +GARD:0002293,GARD:0022517,GARD:0009634,,Rare respiratory disease +GARD:0002293,GARD:0022518,GARD:0009634,,Rare surgical thoracic disease +GARD:0002294,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0002294,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0002294,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0002294,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0002294,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0002294,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0002295,GARD:0022522,GARD:0020675,,Rare hematologic disease +GARD:0002303,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0002303,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0002303,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0002303,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0002303,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0002303,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0002304,GARD:0022521,GARD:0020645,,Rare endocrine disease +GARD:0002304,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0002304,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0002304,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0002304,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0002304,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0002304,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0002305,GARD:0022519,GARD:0019094,,Rare surgical cardiac disease +GARD:0002305,GARD:0022513,GARD:0019094,,Rare developmental defect during embryogenesis +GARD:0002308,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0002308,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0002308,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0002308,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0002308,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0002308,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0002313,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0002313,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0002313,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0002313,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0002313,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0002317,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0002317,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0002317,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002317,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0002317,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002317,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002317,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0002317,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0002317,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002320,GARD:0022531,GARD:0018873,GARD:0002004,Rare genetic disease +GARD:0002320,GARD:0022531,GARD:0018873,GARD:0017202,Rare genetic disease +GARD:0002320,GARD:0022522,GARD:0018873,GARD:0002887,Rare hematologic disease +GARD:0002320,GARD:0022522,GARD:0018873,GARD:0002004,Rare hematologic disease +GARD:0002320,GARD:0022522,GARD:0018873,GARD:0005761,Rare hematologic disease +GARD:0002320,GARD:0022522,GARD:0018873,GARD:0017202,Rare hematologic disease +GARD:0002320,GARD:0022531,GARD:0018873,GARD:0005761,Rare genetic disease +GARD:0002320,GARD:0022531,GARD:0018873,GARD:0002887,Rare genetic disease +GARD:0002321,GARD:0022511,GARD:0019195,GARD:0015815,Rare bone disease +GARD:0002321,GARD:0022531,GARD:0019187,GARD:0015815,Rare genetic disease +GARD:0002321,GARD:0022513,GARD:0019195,GARD:0015815,Rare developmental defect during embryogenesis +GARD:0002321,GARD:0022531,GARD:0019195,GARD:0015815,Rare genetic disease +GARD:0002322,GARD:0022531,GARD:0021420,,Rare genetic disease +GARD:0002322,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0002322,GARD:0022512,GARD:0021420,,Rare renal disease +GARD:0002322,GARD:0022535,GARD:0021420,,Rare neoplastic disease +GARD:0002322,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0002322,GARD:0022531,GARD:0021544,,Rare genetic disease +GARD:0002322,GARD:0022536,GARD:0020932,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002322,GARD:0022517,GARD:0020932,,Rare respiratory disease +GARD:0002322,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0002322,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0002324,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0002324,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0002324,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0002324,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0002324,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0002324,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0002324,GARD:0022531,GARD:0018996,,Rare genetic disease +GARD:0002324,GARD:0022510,GARD:0018996,,Rare skin disease +GARD:0002327,GARD:0022535,GARD:0020547,,Rare neoplastic disease +GARD:0002327,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0002327,GARD:0022511,GARD:0020547,,Rare bone disease +GARD:0002331,GARD:0022511,GARD:0021187,,Rare bone disease +GARD:0002331,GARD:0022513,GARD:0022030,,Rare developmental defect during embryogenesis +GARD:0002331,GARD:0022531,GARD:0022030,,Rare genetic disease +GARD:0002331,GARD:0022511,GARD:0022030,,Rare bone disease +GARD:0002331,GARD:0022531,GARD:0021187,,Rare genetic disease +GARD:0002331,GARD:0022513,GARD:0021187,,Rare developmental defect during embryogenesis +GARD:0002336,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0002336,GARD:0022531,GARD:0018991,,Rare genetic disease +GARD:0002339,GARD:0022531,GARD:0020383,,Rare genetic disease +GARD:0002339,GARD:0022525,GARD:0018676,,Rare systemic or rheumatologic disease +GARD:0002339,GARD:0022524,GARD:0020383,,Rare neurologic disease +GARD:0002339,GARD:0022536,GARD:0018676,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002339,GARD:0022531,GARD:0019521,,Rare genetic disease +GARD:0002339,GARD:0022520,GARD:0019521,,Rare ophthalmic disorder +GARD:0002339,GARD:0022531,GARD:0006611,,Rare genetic disease +GARD:0002342,GARD:0022524,GARD:0019770,,Rare neurologic disease +GARD:0002342,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0002342,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0002342,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0002342,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0002342,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0002342,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0002342,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002342,GARD:0022531,GARD:0019770,,Rare genetic disease +GARD:0002344,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002344,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002344,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002346,GARD:0022510,GARD:0019001,,Rare skin disease +GARD:0002346,GARD:0022531,GARD:0019001,,Rare genetic disease +GARD:0002347,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0002347,GARD:0022531,GARD:0018915,,Rare genetic disease +GARD:0002347,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0002347,GARD:0022531,GARD:0019017,,Rare genetic disease +GARD:0002347,GARD:0022510,GARD:0019017,,Rare skin disease +GARD:0002347,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0002351,GARD:0022524,GARD:0020243,,Rare neurologic disease +GARD:0002356,GARD:0022535,GARD:0021244,GARD:0015608,Rare neoplastic disease +GARD:0002356,GARD:0022522,GARD:0021244,GARD:0015608,Rare hematologic disease +GARD:0002356,GARD:0022536,GARD:0021244,GARD:0015608,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002362,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0002362,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0002362,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0002365,GARD:0022532,GARD:0022532,,Rare urogenital disease +GARD:0002375,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0002375,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002375,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0002375,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0002375,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0002375,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0002375,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0002375,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0002375,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0002375,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0002375,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0002378,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0002378,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0002380,GARD:0022525,GARD:0012704,,Rare systemic or rheumatologic disease +GARD:0002380,GARD:0022511,GARD:0012704,,Rare bone disease +GARD:0002381,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0002381,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0002381,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0002381,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0002381,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0002381,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0002381,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0002381,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0002381,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0002381,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0002384,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002384,GARD:0022531,GARD:0020833,,Rare genetic disease +GARD:0002384,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002384,GARD:0022513,GARD:0020833,,Rare developmental defect during embryogenesis +GARD:0002390,GARD:0022513,GARD:0019499,,Rare developmental defect during embryogenesis +GARD:0002390,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0002390,GARD:0022520,GARD:0019499,,Rare ophthalmic disorder +GARD:0002390,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002390,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0002390,GARD:0022520,GARD:0019500,,Rare ophthalmic disorder +GARD:0002390,GARD:0022513,GARD:0019500,,Rare developmental defect during embryogenesis +GARD:0002390,GARD:0022531,GARD:0019500,,Rare genetic disease +GARD:0002390,GARD:0022531,GARD:0019499,,Rare genetic disease +GARD:0002390,GARD:0022507,GARD:0019965,,Rare maxillo-facial surgical disease +GARD:0002390,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002390,GARD:0022531,GARD:0002392,,Rare genetic disease +GARD:0002390,GARD:0022513,GARD:0019965,,Rare developmental defect during embryogenesis +GARD:0002390,GARD:0022511,GARD:0002392,,Rare bone disease +GARD:0002390,GARD:0022513,GARD:0002392,,Rare developmental defect during embryogenesis +GARD:0002392,GARD:0022531,GARD:0019207,GARD:0000957,Rare genetic disease +GARD:0002392,GARD:0022511,GARD:0019207,GARD:0001578,Rare bone disease +GARD:0002392,GARD:0022513,GARD:0019207,GARD:0022001,Rare developmental defect during embryogenesis +GARD:0002392,GARD:0022511,GARD:0019207,GARD:0022142,Rare bone disease +GARD:0002392,GARD:0022531,GARD:0019207,GARD:0002390,Rare genetic disease +GARD:0002392,GARD:0022531,GARD:0019207,GARD:0012641,Rare genetic disease +GARD:0002392,GARD:0022511,GARD:0019207,GARD:0005539,Rare bone disease +GARD:0002392,GARD:0022511,GARD:0019207,GARD:0002390,Rare bone disease +GARD:0002392,GARD:0022513,GARD:0019207,GARD:0012640,Rare developmental defect during embryogenesis +GARD:0002392,GARD:0022531,GARD:0019207,GARD:0016984,Rare genetic disease +GARD:0002392,GARD:0022513,GARD:0019207,GARD:0005539,Rare developmental defect during embryogenesis +GARD:0002392,GARD:0022531,GARD:0019207,GARD:0003439,Rare genetic disease +GARD:0002392,GARD:0022513,GARD:0019207,GARD:0000428,Rare developmental defect during embryogenesis +GARD:0002392,GARD:0022513,GARD:0019207,GARD:0001578,Rare developmental defect during embryogenesis +GARD:0002392,GARD:0022513,GARD:0019207,GARD:0012641,Rare developmental defect during embryogenesis +GARD:0002392,GARD:0022531,GARD:0019207,GARD:0004031,Rare genetic disease +GARD:0002392,GARD:0022531,GARD:0019207,GARD:0022142,Rare genetic disease +GARD:0002392,GARD:0022531,GARD:0019207,GARD:0005539,Rare genetic disease +GARD:0002392,GARD:0022531,GARD:0019207,GARD:0012640,Rare genetic disease +GARD:0002392,GARD:0022511,GARD:0019207,GARD:0012640,Rare bone disease +GARD:0002392,GARD:0022511,GARD:0019207,GARD:0016984,Rare bone disease +GARD:0002392,GARD:0022511,GARD:0019207,GARD:0012642,Rare bone disease +GARD:0002392,GARD:0022513,GARD:0019207,GARD:0016984,Rare developmental defect during embryogenesis +GARD:0002392,GARD:0022513,GARD:0019207,GARD:0000957,Rare developmental defect during embryogenesis +GARD:0002392,GARD:0022513,GARD:0019207,GARD:0002390,Rare developmental defect during embryogenesis +GARD:0002392,GARD:0022511,GARD:0019207,GARD:0004031,Rare bone disease +GARD:0002392,GARD:0022531,GARD:0019207,GARD:0012642,Rare genetic disease +GARD:0002392,GARD:0022511,GARD:0019207,GARD:0000957,Rare bone disease +GARD:0002392,GARD:0022531,GARD:0019207,GARD:0001578,Rare genetic disease +GARD:0002392,GARD:0022511,GARD:0019207,GARD:0022001,Rare bone disease +GARD:0002392,GARD:0022513,GARD:0019207,GARD:0022142,Rare developmental defect during embryogenesis +GARD:0002392,GARD:0022513,GARD:0019207,GARD:0003439,Rare developmental defect during embryogenesis +GARD:0002392,GARD:0022513,GARD:0019207,GARD:0012642,Rare developmental defect during embryogenesis +GARD:0002392,GARD:0022531,GARD:0019207,GARD:0022001,Rare genetic disease +GARD:0002392,GARD:0022511,GARD:0019207,GARD:0012641,Rare bone disease +GARD:0002392,GARD:0022531,GARD:0019207,GARD:0000428,Rare genetic disease +GARD:0002392,GARD:0022511,GARD:0019207,GARD:0000428,Rare bone disease +GARD:0002392,GARD:0022511,GARD:0019207,GARD:0003439,Rare bone disease +GARD:0002392,GARD:0022513,GARD:0019207,GARD:0004031,Rare developmental defect during embryogenesis +GARD:0002397,GARD:0022518,GARD:0020212,,Rare surgical thoracic disease +GARD:0002397,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002397,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0002397,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002397,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0002400,GARD:0022531,GARD:0018956,,Rare genetic disease +GARD:0002400,GARD:0022508,GARD:0018956,,Rare inborn errors of metabolism +GARD:0002400,GARD:0022508,GARD:0021307,,Rare inborn errors of metabolism +GARD:0002400,GARD:0022531,GARD:0021307,,Rare genetic disease +GARD:0002408,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0002408,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0002408,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0002409,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002409,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002409,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002410,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0002410,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0002410,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0002410,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0002410,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0002410,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0002410,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0002410,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0002410,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0002410,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0002417,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0002417,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0002417,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0002417,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0002418,GARD:0022509,GARD:0019723,GARD:0022260,Rare infectious disease +GARD:0002418,GARD:0022509,GARD:0019723,GARD:0022259,Rare infectious disease +GARD:0002418,GARD:0022509,GARD:0019723,GARD:0022261,Rare infectious disease +GARD:0002419,GARD:0022531,GARD:0021748,,Rare genetic disease +GARD:0002419,GARD:0022526,GARD:0020055,,Rare odontologic disease +GARD:0002422,GARD:0022512,GARD:0002424,,Rare renal disease +GARD:0002422,GARD:0022520,GARD:0002424,,Rare ophthalmic disorder +GARD:0002422,GARD:0022531,GARD:0002424,,Rare genetic disease +GARD:0002422,GARD:0022508,GARD:0002424,,Rare inborn errors of metabolism +GARD:0002424,GARD:0022512,GARD:0019229,GARD:0005392,Rare renal disease +GARD:0002424,GARD:0022531,GARD:0019529,GARD:0005392,Rare genetic disease +GARD:0002424,GARD:0022508,GARD:0021308,GARD:0005392,Rare inborn errors of metabolism +GARD:0002424,GARD:0022531,GARD:0021308,GARD:0013639,Rare genetic disease +GARD:0002424,GARD:0022512,GARD:0019229,GARD:0002422,Rare renal disease +GARD:0002424,GARD:0022520,GARD:0019529,GARD:0005392,Rare ophthalmic disorder +GARD:0002424,GARD:0022531,GARD:0021308,GARD:0018005,Rare genetic disease +GARD:0002424,GARD:0022520,GARD:0019529,GARD:0013639,Rare ophthalmic disorder +GARD:0002424,GARD:0022531,GARD:0019529,GARD:0013639,Rare genetic disease +GARD:0002424,GARD:0022531,GARD:0019529,GARD:0018005,Rare genetic disease +GARD:0002424,GARD:0022531,GARD:0019529,GARD:0002422,Rare genetic disease +GARD:0002424,GARD:0022531,GARD:0019229,GARD:0005392,Rare genetic disease +GARD:0002424,GARD:0022508,GARD:0021308,GARD:0002422,Rare inborn errors of metabolism +GARD:0002424,GARD:0022520,GARD:0019529,GARD:0018005,Rare ophthalmic disorder +GARD:0002424,GARD:0022531,GARD:0021308,GARD:0002422,Rare genetic disease +GARD:0002424,GARD:0022508,GARD:0021308,GARD:0013639,Rare inborn errors of metabolism +GARD:0002424,GARD:0022508,GARD:0021308,GARD:0018005,Rare inborn errors of metabolism +GARD:0002424,GARD:0022531,GARD:0019229,GARD:0018005,Rare genetic disease +GARD:0002424,GARD:0022512,GARD:0019229,GARD:0018005,Rare renal disease +GARD:0002424,GARD:0022531,GARD:0019229,GARD:0002422,Rare genetic disease +GARD:0002424,GARD:0022520,GARD:0019529,GARD:0002422,Rare ophthalmic disorder +GARD:0002424,GARD:0022531,GARD:0021308,GARD:0005392,Rare genetic disease +GARD:0002424,GARD:0022512,GARD:0019229,GARD:0013639,Rare renal disease +GARD:0002424,GARD:0022531,GARD:0019229,GARD:0013639,Rare genetic disease +GARD:0002427,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0002427,GARD:0022531,GARD:0020311,,Rare genetic disease +GARD:0002427,GARD:0022513,GARD:0019868,,Rare developmental defect during embryogenesis +GARD:0002427,GARD:0022518,GARD:0019868,,Rare surgical thoracic disease +GARD:0002428,GARD:0022508,GARD:0018953,,Rare inborn errors of metabolism +GARD:0002428,GARD:0022531,GARD:0018953,,Rare genetic disease +GARD:0002429,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0002429,GARD:0022531,GARD:0020526,,Rare genetic disease +GARD:0002429,GARD:0022536,GARD:0020526,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002429,GARD:0022515,GARD:0020526,,Rare cardiac disease +GARD:0002429,GARD:0022531,GARD:0020392,,Rare genetic disease +GARD:0002429,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0002430,GARD:0022524,GARD:0020728,GARD:0019950,Rare neurologic disease +GARD:0002430,GARD:0022535,GARD:0020728,GARD:0019950,Rare neoplastic disease +GARD:0002431,GARD:0022524,GARD:0010891,,Rare neurologic disease +GARD:0002431,GARD:0022536,GARD:0010891,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002431,GARD:0022531,GARD:0010891,,Rare genetic disease +GARD:0002431,GARD:0022508,GARD:0010891,,Rare inborn errors of metabolism +GARD:0002431,GARD:0022511,GARD:0010891,,Rare bone disease +GARD:0002432,GARD:0022531,GARD:0020915,GARD:0010097,Rare genetic disease +GARD:0002432,GARD:0022512,GARD:0005785,GARD:0010097,Rare renal disease +GARD:0002432,GARD:0022520,GARD:0005785,GARD:0010097,Rare ophthalmic disorder +GARD:0002432,GARD:0022536,GARD:0005785,GARD:0010097,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002432,GARD:0022531,GARD:0005785,GARD:0010097,Rare genetic disease +GARD:0002432,GARD:0022513,GARD:0005785,GARD:0010097,Rare developmental defect during embryogenesis +GARD:0002432,GARD:0022528,GARD:0005785,GARD:0010097,Rare otorhinolaryngologic disease +GARD:0002432,GARD:0022513,GARD:0020915,GARD:0010097,Rare developmental defect during embryogenesis +GARD:0002436,GARD:0022516,GARD:0019786,,Rare gastroenterologic disease +GARD:0002437,GARD:0022521,GARD:0009316,GARD:0021985,Rare endocrine disease +GARD:0002437,GARD:0022535,GARD:0009316,GARD:0021985,Rare neoplastic disease +GARD:0002437,GARD:0022535,GARD:0009316,GARD:0022052,Rare neoplastic disease +GARD:0002437,GARD:0022521,GARD:0009316,GARD:0022052,Rare endocrine disease +GARD:0002438,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0002438,GARD:0022531,GARD:0020061,,Rare genetic disease +GARD:0002438,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0002438,GARD:0022516,GARD:0019786,,Rare gastroenterologic disease +GARD:0002441,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0002441,GARD:0022536,GARD:0008233,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002441,GARD:0022531,GARD:0020533,,Rare genetic disease +GARD:0002441,GARD:0022531,GARD:0008233,,Rare genetic disease +GARD:0002441,GARD:0022508,GARD:0008233,,Rare inborn errors of metabolism +GARD:0002441,GARD:0022524,GARD:0019491,,Rare neurologic disease +GARD:0002441,GARD:0022536,GARD:0020533,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002441,GARD:0022517,GARD:0020940,,Rare respiratory disease +GARD:0002441,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0002441,GARD:0022511,GARD:0021662,,Rare bone disease +GARD:0002441,GARD:0022525,GARD:0021662,,Rare systemic or rheumatologic disease +GARD:0002441,GARD:0022515,GARD:0020533,,Rare cardiac disease +GARD:0002441,GARD:0022536,GARD:0020940,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002441,GARD:0022531,GARD:0019491,,Rare genetic disease +GARD:0002441,GARD:0022531,GARD:0021662,,Rare genetic disease +GARD:0002442,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0002442,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0002442,GARD:0022508,GARD:0008233,,Rare inborn errors of metabolism +GARD:0002442,GARD:0022536,GARD:0020930,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002442,GARD:0022531,GARD:0019491,,Rare genetic disease +GARD:0002442,GARD:0022524,GARD:0021615,,Rare neurologic disease +GARD:0002442,GARD:0022524,GARD:0019491,,Rare neurologic disease +GARD:0002442,GARD:0022531,GARD:0021615,,Rare genetic disease +GARD:0002442,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0002442,GARD:0022517,GARD:0020930,,Rare respiratory disease +GARD:0002442,GARD:0022531,GARD:0008233,,Rare genetic disease +GARD:0002442,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0002442,GARD:0022536,GARD:0008233,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002443,GARD:0022520,GARD:0022115,,Rare ophthalmic disorder +GARD:0002443,GARD:0022517,GARD:0020930,,Rare respiratory disease +GARD:0002443,GARD:0022531,GARD:0019547,,Rare genetic disease +GARD:0002443,GARD:0022536,GARD:0020930,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002443,GARD:0022511,GARD:0021662,,Rare bone disease +GARD:0002443,GARD:0022531,GARD:0021662,,Rare genetic disease +GARD:0002443,GARD:0022524,GARD:0019491,,Rare neurologic disease +GARD:0002443,GARD:0022531,GARD:0019491,,Rare genetic disease +GARD:0002443,GARD:0022531,GARD:0008233,,Rare genetic disease +GARD:0002443,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0002443,GARD:0022520,GARD:0019547,,Rare ophthalmic disorder +GARD:0002443,GARD:0022531,GARD:0021615,,Rare genetic disease +GARD:0002443,GARD:0022524,GARD:0021615,,Rare neurologic disease +GARD:0002443,GARD:0022508,GARD:0008233,,Rare inborn errors of metabolism +GARD:0002443,GARD:0022531,GARD:0022150,,Rare genetic disease +GARD:0002443,GARD:0022536,GARD:0008233,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002443,GARD:0022525,GARD:0021662,,Rare systemic or rheumatologic disease +GARD:0002443,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0002449,GARD:0022531,GARD:0019194,GARD:0016255,Rare genetic disease +GARD:0002449,GARD:0022513,GARD:0019194,GARD:0015172,Rare developmental defect during embryogenesis +GARD:0002449,GARD:0022513,GARD:0019194,GARD:0016255,Rare developmental defect during embryogenesis +GARD:0002449,GARD:0022531,GARD:0019194,GARD:0015172,Rare genetic disease +GARD:0002449,GARD:0022511,GARD:0019194,GARD:0015768,Rare bone disease +GARD:0002449,GARD:0022513,GARD:0019194,GARD:0015768,Rare developmental defect during embryogenesis +GARD:0002449,GARD:0022531,GARD:0019194,GARD:0015768,Rare genetic disease +GARD:0002449,GARD:0022511,GARD:0019194,GARD:0015172,Rare bone disease +GARD:0002449,GARD:0022511,GARD:0019194,GARD:0016255,Rare bone disease +GARD:0002451,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0002451,GARD:0022531,GARD:0019416,,Rare genetic disease +GARD:0002451,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0002451,GARD:0022524,GARD:0019416,,Rare neurologic disease +GARD:0002451,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0002452,GARD:0022513,GARD:0022093,,Rare developmental defect during embryogenesis +GARD:0002452,GARD:0022513,GARD:0022092,,Rare developmental defect during embryogenesis +GARD:0002452,GARD:0022520,GARD:0022092,,Rare ophthalmic disorder +GARD:0002452,GARD:0022531,GARD:0022093,,Rare genetic disease +GARD:0002452,GARD:0022520,GARD:0022093,,Rare ophthalmic disorder +GARD:0002452,GARD:0022531,GARD:0022173,,Rare genetic disease +GARD:0002454,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0002454,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0002454,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0002454,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0002454,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0002454,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0002454,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0002456,GARD:0022529,GARD:0007827,,Rare infertility +GARD:0002456,GARD:0022521,GARD:0007827,,Rare endocrine disease +GARD:0002456,GARD:0022509,GARD:0007827,,Rare infectious disease +GARD:0002456,GARD:0022517,GARD:0007827,,Rare respiratory disease +GARD:0002460,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0002460,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0002460,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0002460,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002460,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0002460,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0002460,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002460,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0002460,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0002460,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0002462,GARD:0022513,GARD:0019870,,Rare developmental defect during embryogenesis +GARD:0002462,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0002462,GARD:0022510,GARD:0018769,,Rare skin disease +GARD:0002462,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0002462,GARD:0022513,GARD:0018769,,Rare developmental defect during embryogenesis +GARD:0002462,GARD:0022527,GARD:0018769,,Rare circulatory system disease +GARD:0002462,GARD:0022531,GARD:0018769,,Rare genetic disease +GARD:0002462,GARD:0022531,GARD:0019870,,Rare genetic disease +GARD:0002469,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0002469,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0002469,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0002470,GARD:0022522,GARD:0020539,GARD:0015082,Rare hematologic disease +GARD:0002470,GARD:0022531,GARD:0020539,GARD:0015082,Rare genetic disease +GARD:0002474,GARD:0022526,GARD:0016582,,Rare odontologic disease +GARD:0002474,GARD:0022531,GARD:0016582,,Rare genetic disease +GARD:0002475,GARD:0022526,GARD:0016582,,Rare odontologic disease +GARD:0002475,GARD:0022531,GARD:0016582,,Rare genetic disease +GARD:0002478,GARD:0022531,GARD:0021020,GARD:0016439,Rare genetic disease +GARD:0002478,GARD:0022522,GARD:0021020,GARD:0015240,Rare hematologic disease +GARD:0002478,GARD:0022531,GARD:0021020,GARD:0015240,Rare genetic disease +GARD:0002478,GARD:0022522,GARD:0021020,GARD:0016439,Rare hematologic disease +GARD:0002483,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0002483,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0002483,GARD:0022524,GARD:0018879,,Rare neurologic disease +GARD:0002485,GARD:0022520,GARD:0016490,GARD:0002490,Rare ophthalmic disorder +GARD:0002485,GARD:0022520,GARD:0016490,GARD:0018226,Rare ophthalmic disorder +GARD:0002485,GARD:0022513,GARD:0016490,GARD:0002490,Rare developmental defect during embryogenesis +GARD:0002485,GARD:0022520,GARD:0016490,GARD:0018224,Rare ophthalmic disorder +GARD:0002485,GARD:0022513,GARD:0016490,GARD:0018226,Rare developmental defect during embryogenesis +GARD:0002485,GARD:0022513,GARD:0016490,GARD:0018225,Rare developmental defect during embryogenesis +GARD:0002485,GARD:0022513,GARD:0016490,GARD:0018224,Rare developmental defect during embryogenesis +GARD:0002485,GARD:0022531,GARD:0016490,GARD:0018226,Rare genetic disease +GARD:0002485,GARD:0022531,GARD:0016490,GARD:0018225,Rare genetic disease +GARD:0002485,GARD:0022531,GARD:0016490,GARD:0018227,Rare genetic disease +GARD:0002485,GARD:0022531,GARD:0016490,GARD:0002490,Rare genetic disease +GARD:0002485,GARD:0022520,GARD:0016490,GARD:0018225,Rare ophthalmic disorder +GARD:0002485,GARD:0022513,GARD:0016490,GARD:0018227,Rare developmental defect during embryogenesis +GARD:0002485,GARD:0022520,GARD:0016490,GARD:0018227,Rare ophthalmic disorder +GARD:0002485,GARD:0022531,GARD:0016490,GARD:0018224,Rare genetic disease +GARD:0002486,GARD:0022531,GARD:0022185,GARD:0022186,Rare genetic disease +GARD:0002486,GARD:0022531,GARD:0022185,GARD:0016490,Rare genetic disease +GARD:0002490,GARD:0022531,GARD:0002485,,Rare genetic disease +GARD:0002490,GARD:0022513,GARD:0002485,,Rare developmental defect during embryogenesis +GARD:0002490,GARD:0022520,GARD:0002485,,Rare ophthalmic disorder +GARD:0002491,GARD:0022524,GARD:0020704,GARD:0005653,Rare neurologic disease +GARD:0002491,GARD:0022535,GARD:0020704,GARD:0005653,Rare neoplastic disease +GARD:0002491,GARD:0022535,GARD:0020704,GARD:0020705,Rare neoplastic disease +GARD:0002491,GARD:0022524,GARD:0020704,GARD:0020705,Rare neurologic disease +GARD:0002492,GARD:0022527,GARD:0012827,,Rare circulatory system disease +GARD:0002492,GARD:0022531,GARD:0012827,,Rare genetic disease +GARD:0002492,GARD:0022513,GARD:0012827,,Rare developmental defect during embryogenesis +GARD:0002492,GARD:0022512,GARD:0012827,,Rare renal disease +GARD:0002492,GARD:0022510,GARD:0012827,,Rare skin disease +GARD:0002492,GARD:0022536,GARD:0012827,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002496,GARD:0022521,GARD:0022053,,Rare endocrine disease +GARD:0002496,GARD:0022535,GARD:0022053,,Rare neoplastic disease +GARD:0002496,GARD:0022516,GARD:0022053,,Rare gastroenterologic disease +GARD:0002498,GARD:0022531,GARD:0019804,GARD:0015412,Rare genetic disease +GARD:0002498,GARD:0022531,GARD:0022440,GARD:0015840,Rare genetic disease +GARD:0002498,GARD:0022524,GARD:0022440,GARD:0015840,Rare neurologic disease +GARD:0002498,GARD:0022524,GARD:0022440,GARD:0015133,Rare neurologic disease +GARD:0002498,GARD:0022524,GARD:0022440,GARD:0015412,Rare neurologic disease +GARD:0002498,GARD:0022524,GARD:0022440,GARD:0016257,Rare neurologic disease +GARD:0002498,GARD:0022521,GARD:0019804,GARD:0016257,Rare endocrine disease +GARD:0002498,GARD:0022531,GARD:0022440,GARD:0015412,Rare genetic disease +GARD:0002498,GARD:0022521,GARD:0019804,GARD:0015412,Rare endocrine disease +GARD:0002498,GARD:0022521,GARD:0019804,GARD:0015840,Rare endocrine disease +GARD:0002498,GARD:0022524,GARD:0022440,GARD:0015450,Rare neurologic disease +GARD:0002498,GARD:0022521,GARD:0019804,GARD:0015450,Rare endocrine disease +GARD:0002498,GARD:0022531,GARD:0019804,GARD:0015840,Rare genetic disease +GARD:0002498,GARD:0022531,GARD:0022440,GARD:0016257,Rare genetic disease +GARD:0002498,GARD:0022531,GARD:0022440,GARD:0015133,Rare genetic disease +GARD:0002498,GARD:0022531,GARD:0019804,GARD:0015450,Rare genetic disease +GARD:0002498,GARD:0022531,GARD:0022440,GARD:0015450,Rare genetic disease +GARD:0002498,GARD:0022521,GARD:0019804,GARD:0015133,Rare endocrine disease +GARD:0002498,GARD:0022531,GARD:0019804,GARD:0016257,Rare genetic disease +GARD:0002498,GARD:0022531,GARD:0019804,GARD:0015133,Rare genetic disease +GARD:0002499,GARD:0022531,GARD:0019148,,Rare genetic disease +GARD:0002499,GARD:0022531,GARD:0020226,,Rare genetic disease +GARD:0002499,GARD:0022513,GARD:0019148,,Rare developmental defect during embryogenesis +GARD:0002499,GARD:0022521,GARD:0020226,,Rare endocrine disease +GARD:0002499,GARD:0022532,GARD:0019148,,Rare urogenital disease +GARD:0002499,GARD:0022521,GARD:0019148,,Rare endocrine disease +GARD:0002499,GARD:0022514,GARD:0019148,,Rare gynecologic or obstetric disease +GARD:0002513,GARD:0022508,GARD:0021309,,Rare inborn errors of metabolism +GARD:0002513,GARD:0022531,GARD:0021309,,Rare genetic disease +GARD:0002515,GARD:0022508,GARD:0016523,GARD:0015173,Rare inborn errors of metabolism +GARD:0002515,GARD:0022531,GARD:0016523,GARD:0015173,Rare genetic disease +GARD:0002515,GARD:0022512,GARD:0016523,GARD:0015173,Rare renal disease +GARD:0002515,GARD:0022536,GARD:0016523,GARD:0015173,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002515,GARD:0022531,GARD:0021508,GARD:0015173,Rare genetic disease +GARD:0002515,GARD:0022536,GARD:0021508,GARD:0015173,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002515,GARD:0022523,GARD:0021508,GARD:0015173,Rare immune disease +GARD:0002515,GARD:0022506,GARD:0016523,GARD:0015173,Rare hepatic disease +GARD:0002520,GARD:0022531,GARD:0018973,GARD:0017399,Rare genetic disease +GARD:0002520,GARD:0022531,GARD:0019790,GARD:0017396,Rare genetic disease +GARD:0002520,GARD:0022536,GARD:0022060,GARD:0017394,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022531,GARD:0019790,GARD:0017397,Rare genetic disease +GARD:0002520,GARD:0022531,GARD:0020525,GARD:0017397,Rare genetic disease +GARD:0002520,GARD:0022506,GARD:0019790,GARD:0017398,Rare hepatic disease +GARD:0002520,GARD:0022506,GARD:0019790,GARD:0017396,Rare hepatic disease +GARD:0002520,GARD:0022506,GARD:0019790,GARD:0017400,Rare hepatic disease +GARD:0002520,GARD:0022524,GARD:0020370,GARD:0017399,Rare neurologic disease +GARD:0002520,GARD:0022515,GARD:0020525,GARD:0000108,Rare cardiac disease +GARD:0002520,GARD:0022515,GARD:0020525,GARD:0017397,Rare cardiac disease +GARD:0002520,GARD:0022515,GARD:0020525,GARD:0017396,Rare cardiac disease +GARD:0002520,GARD:0022531,GARD:0020525,GARD:0017395,Rare genetic disease +GARD:0002520,GARD:0022531,GARD:0018973,GARD:0017400,Rare genetic disease +GARD:0002520,GARD:0022531,GARD:0018973,GARD:0000108,Rare genetic disease +GARD:0002520,GARD:0022531,GARD:0019790,GARD:0017394,Rare genetic disease +GARD:0002520,GARD:0022531,GARD:0020370,GARD:0017399,Rare genetic disease +GARD:0002520,GARD:0022524,GARD:0020370,GARD:0017396,Rare neurologic disease +GARD:0002520,GARD:0022531,GARD:0018973,GARD:0017397,Rare genetic disease +GARD:0002520,GARD:0022508,GARD:0018973,GARD:0000108,Rare inborn errors of metabolism +GARD:0002520,GARD:0022515,GARD:0020525,GARD:0017394,Rare cardiac disease +GARD:0002520,GARD:0022515,GARD:0020525,GARD:0017398,Rare cardiac disease +GARD:0002520,GARD:0022531,GARD:0019790,GARD:0017398,Rare genetic disease +GARD:0002520,GARD:0022531,GARD:0020370,GARD:0017400,Rare genetic disease +GARD:0002520,GARD:0022536,GARD:0022065,GARD:0017399,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022536,GARD:0022065,GARD:0017398,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022531,GARD:0020525,GARD:0017400,Rare genetic disease +GARD:0002520,GARD:0022524,GARD:0020370,GARD:0017395,Rare neurologic disease +GARD:0002520,GARD:0022531,GARD:0018973,GARD:0017395,Rare genetic disease +GARD:0002520,GARD:0022531,GARD:0020370,GARD:0017394,Rare genetic disease +GARD:0002520,GARD:0022531,GARD:0020370,GARD:0017396,Rare genetic disease +GARD:0002520,GARD:0022536,GARD:0022065,GARD:0017395,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022531,GARD:0018973,GARD:0017398,Rare genetic disease +GARD:0002520,GARD:0022536,GARD:0022065,GARD:0000108,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022536,GARD:0022065,GARD:0017397,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022536,GARD:0022065,GARD:0017400,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022536,GARD:0022060,GARD:0000108,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022536,GARD:0022060,GARD:0017400,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022508,GARD:0018973,GARD:0017395,Rare inborn errors of metabolism +GARD:0002520,GARD:0022508,GARD:0018973,GARD:0017397,Rare inborn errors of metabolism +GARD:0002520,GARD:0022536,GARD:0022060,GARD:0017397,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022515,GARD:0020525,GARD:0017399,Rare cardiac disease +GARD:0002520,GARD:0022531,GARD:0020525,GARD:0017394,Rare genetic disease +GARD:0002520,GARD:0022536,GARD:0022065,GARD:0017396,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022531,GARD:0020525,GARD:0017398,Rare genetic disease +GARD:0002520,GARD:0022508,GARD:0018973,GARD:0017394,Rare inborn errors of metabolism +GARD:0002520,GARD:0022531,GARD:0020370,GARD:0000108,Rare genetic disease +GARD:0002520,GARD:0022531,GARD:0020525,GARD:0000108,Rare genetic disease +GARD:0002520,GARD:0022531,GARD:0020370,GARD:0017395,Rare genetic disease +GARD:0002520,GARD:0022524,GARD:0020370,GARD:0017398,Rare neurologic disease +GARD:0002520,GARD:0022506,GARD:0019790,GARD:0017394,Rare hepatic disease +GARD:0002520,GARD:0022536,GARD:0022060,GARD:0017398,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022531,GARD:0020525,GARD:0017399,Rare genetic disease +GARD:0002520,GARD:0022536,GARD:0022065,GARD:0017394,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022531,GARD:0020370,GARD:0017398,Rare genetic disease +GARD:0002520,GARD:0022515,GARD:0020525,GARD:0017395,Rare cardiac disease +GARD:0002520,GARD:0022531,GARD:0020370,GARD:0017397,Rare genetic disease +GARD:0002520,GARD:0022531,GARD:0019790,GARD:0017400,Rare genetic disease +GARD:0002520,GARD:0022506,GARD:0019790,GARD:0000108,Rare hepatic disease +GARD:0002520,GARD:0022524,GARD:0020370,GARD:0017400,Rare neurologic disease +GARD:0002520,GARD:0022524,GARD:0020370,GARD:0017394,Rare neurologic disease +GARD:0002520,GARD:0022506,GARD:0019790,GARD:0017395,Rare hepatic disease +GARD:0002520,GARD:0022536,GARD:0022060,GARD:0017399,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022531,GARD:0018973,GARD:0017396,Rare genetic disease +GARD:0002520,GARD:0022508,GARD:0018973,GARD:0017398,Rare inborn errors of metabolism +GARD:0002520,GARD:0022531,GARD:0020525,GARD:0017396,Rare genetic disease +GARD:0002520,GARD:0022506,GARD:0019790,GARD:0017397,Rare hepatic disease +GARD:0002520,GARD:0022508,GARD:0018973,GARD:0017396,Rare inborn errors of metabolism +GARD:0002520,GARD:0022524,GARD:0020370,GARD:0017397,Rare neurologic disease +GARD:0002520,GARD:0022515,GARD:0020525,GARD:0017400,Rare cardiac disease +GARD:0002520,GARD:0022531,GARD:0019790,GARD:0017399,Rare genetic disease +GARD:0002520,GARD:0022531,GARD:0019790,GARD:0000108,Rare genetic disease +GARD:0002520,GARD:0022531,GARD:0019790,GARD:0017395,Rare genetic disease +GARD:0002520,GARD:0022508,GARD:0018973,GARD:0017400,Rare inborn errors of metabolism +GARD:0002520,GARD:0022531,GARD:0018973,GARD:0017394,Rare genetic disease +GARD:0002520,GARD:0022536,GARD:0022060,GARD:0017396,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022508,GARD:0018973,GARD:0017399,Rare inborn errors of metabolism +GARD:0002520,GARD:0022536,GARD:0022060,GARD:0017395,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002520,GARD:0022524,GARD:0020370,GARD:0000108,Rare neurologic disease +GARD:0002520,GARD:0022506,GARD:0019790,GARD:0017399,Rare hepatic disease +GARD:0002521,GARD:0022508,GARD:0021323,GARD:0007604,Rare inborn errors of metabolism +GARD:0002521,GARD:0022520,GARD:0022108,GARD:0017405,Rare ophthalmic disorder +GARD:0002521,GARD:0022524,GARD:0020382,GARD:0007604,Rare neurologic disease +GARD:0002521,GARD:0022508,GARD:0021323,GARD:0017405,Rare inborn errors of metabolism +GARD:0002521,GARD:0022531,GARD:0019491,GARD:0017405,Rare genetic disease +GARD:0002521,GARD:0022531,GARD:0019491,GARD:0007604,Rare genetic disease +GARD:0002521,GARD:0022531,GARD:0020382,GARD:0007604,Rare genetic disease +GARD:0002521,GARD:0022531,GARD:0020382,GARD:0017405,Rare genetic disease +GARD:0002521,GARD:0022520,GARD:0022108,GARD:0017404,Rare ophthalmic disorder +GARD:0002521,GARD:0022531,GARD:0022108,GARD:0017405,Rare genetic disease +GARD:0002521,GARD:0022531,GARD:0020382,GARD:0017404,Rare genetic disease +GARD:0002521,GARD:0022531,GARD:0021323,GARD:0017404,Rare genetic disease +GARD:0002521,GARD:0022524,GARD:0019491,GARD:0007604,Rare neurologic disease +GARD:0002521,GARD:0022520,GARD:0022108,GARD:0007604,Rare ophthalmic disorder +GARD:0002521,GARD:0022531,GARD:0021323,GARD:0017405,Rare genetic disease +GARD:0002521,GARD:0022531,GARD:0022108,GARD:0017404,Rare genetic disease +GARD:0002521,GARD:0022524,GARD:0019491,GARD:0017404,Rare neurologic disease +GARD:0002521,GARD:0022531,GARD:0019491,GARD:0017404,Rare genetic disease +GARD:0002521,GARD:0022536,GARD:0021323,GARD:0017404,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002521,GARD:0022508,GARD:0021323,GARD:0017404,Rare inborn errors of metabolism +GARD:0002521,GARD:0022531,GARD:0021323,GARD:0007604,Rare genetic disease +GARD:0002521,GARD:0022524,GARD:0020382,GARD:0017405,Rare neurologic disease +GARD:0002521,GARD:0022524,GARD:0020382,GARD:0017404,Rare neurologic disease +GARD:0002521,GARD:0022524,GARD:0021323,GARD:0017404,Rare neurologic disease +GARD:0002521,GARD:0022531,GARD:0022108,GARD:0007604,Rare genetic disease +GARD:0002521,GARD:0022524,GARD:0019491,GARD:0017405,Rare neurologic disease +GARD:0002521,GARD:0022524,GARD:0021323,GARD:0017405,Rare neurologic disease +GARD:0002521,GARD:0022524,GARD:0021323,GARD:0007604,Rare neurologic disease +GARD:0002521,GARD:0022536,GARD:0021323,GARD:0017405,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002521,GARD:0022536,GARD:0021323,GARD:0007604,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002523,GARD:0022513,GARD:0022084,,Rare developmental defect during embryogenesis +GARD:0002523,GARD:0022531,GARD:0022084,,Rare genetic disease +GARD:0002523,GARD:0022520,GARD:0022084,,Rare ophthalmic disorder +GARD:0002523,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002523,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002523,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002541,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0002541,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002541,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0002541,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0002541,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0002541,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0002541,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0002542,GARD:0022508,GARD:0018814,GARD:0015882,Rare inborn errors of metabolism +GARD:0002542,GARD:0022521,GARD:0019294,GARD:0015882,Rare endocrine disease +GARD:0002542,GARD:0022528,GARD:0019145,GARD:0015882,Rare otorhinolaryngologic disease +GARD:0002542,GARD:0022521,GARD:0021467,GARD:0015943,Rare endocrine disease +GARD:0002542,GARD:0022528,GARD:0019145,GARD:0016237,Rare otorhinolaryngologic disease +GARD:0002542,GARD:0022531,GARD:0021992,GARD:0016062,Rare genetic disease +GARD:0002542,GARD:0022521,GARD:0019294,GARD:0015760,Rare endocrine disease +GARD:0002542,GARD:0022513,GARD:0019145,GARD:0016237,Rare developmental defect during embryogenesis +GARD:0002542,GARD:0022521,GARD:0021467,GARD:0015882,Rare endocrine disease +GARD:0002542,GARD:0022531,GARD:0021479,GARD:0015943,Rare genetic disease +GARD:0002542,GARD:0022531,GARD:0021479,GARD:0015760,Rare genetic disease +GARD:0002542,GARD:0022513,GARD:0021467,GARD:0015882,Rare developmental defect during embryogenesis +GARD:0002542,GARD:0022531,GARD:0019145,GARD:0015760,Rare genetic disease +GARD:0002542,GARD:0022531,GARD:0018814,GARD:0015760,Rare genetic disease +GARD:0002542,GARD:0022531,GARD:0019145,GARD:0016237,Rare genetic disease +GARD:0002542,GARD:0022514,GARD:0019294,GARD:0015943,Rare gynecologic or obstetric disease +GARD:0002542,GARD:0022528,GARD:0019145,GARD:0015943,Rare otorhinolaryngologic disease +GARD:0002542,GARD:0022508,GARD:0018814,GARD:0015760,Rare inborn errors of metabolism +GARD:0002542,GARD:0022529,GARD:0021683,GARD:0015882,Rare infertility +GARD:0002542,GARD:0022531,GARD:0021479,GARD:0015882,Rare genetic disease +GARD:0002542,GARD:0022514,GARD:0021479,GARD:0015760,Rare gynecologic or obstetric disease +GARD:0002542,GARD:0022531,GARD:0019145,GARD:0015882,Rare genetic disease +GARD:0002542,GARD:0022528,GARD:0019145,GARD:0015760,Rare otorhinolaryngologic disease +GARD:0002542,GARD:0022514,GARD:0021479,GARD:0015882,Rare gynecologic or obstetric disease +GARD:0002542,GARD:0022531,GARD:0018814,GARD:0016062,Rare genetic disease +GARD:0002542,GARD:0022513,GARD:0021467,GARD:0015943,Rare developmental defect during embryogenesis +GARD:0002542,GARD:0022514,GARD:0019294,GARD:0016237,Rare gynecologic or obstetric disease +GARD:0002542,GARD:0022531,GARD:0018814,GARD:0016237,Rare genetic disease +GARD:0002542,GARD:0022531,GARD:0021992,GARD:0015943,Rare genetic disease +GARD:0002542,GARD:0022521,GARD:0021467,GARD:0015760,Rare endocrine disease +GARD:0002542,GARD:0022529,GARD:0021683,GARD:0015760,Rare infertility +GARD:0002542,GARD:0022521,GARD:0021467,GARD:0016237,Rare endocrine disease +GARD:0002542,GARD:0022514,GARD:0021479,GARD:0015943,Rare gynecologic or obstetric disease +GARD:0002542,GARD:0022508,GARD:0018814,GARD:0015943,Rare inborn errors of metabolism +GARD:0002542,GARD:0022531,GARD:0018814,GARD:0015882,Rare genetic disease +GARD:0002542,GARD:0022514,GARD:0019294,GARD:0016062,Rare gynecologic or obstetric disease +GARD:0002542,GARD:0022529,GARD:0021683,GARD:0016062,Rare infertility +GARD:0002542,GARD:0022513,GARD:0019145,GARD:0015943,Rare developmental defect during embryogenesis +GARD:0002542,GARD:0022514,GARD:0021479,GARD:0016237,Rare gynecologic or obstetric disease +GARD:0002542,GARD:0022531,GARD:0021479,GARD:0016062,Rare genetic disease +GARD:0002542,GARD:0022532,GARD:0021467,GARD:0015943,Rare urogenital disease +GARD:0002542,GARD:0022529,GARD:0021683,GARD:0015943,Rare infertility +GARD:0002542,GARD:0022531,GARD:0021992,GARD:0015760,Rare genetic disease +GARD:0002542,GARD:0022531,GARD:0021479,GARD:0016237,Rare genetic disease +GARD:0002542,GARD:0022508,GARD:0018814,GARD:0016237,Rare inborn errors of metabolism +GARD:0002542,GARD:0022514,GARD:0019294,GARD:0015760,Rare gynecologic or obstetric disease +GARD:0002542,GARD:0022531,GARD:0021683,GARD:0015882,Rare genetic disease +GARD:0002542,GARD:0022532,GARD:0021467,GARD:0016237,Rare urogenital disease +GARD:0002542,GARD:0022513,GARD:0019145,GARD:0015882,Rare developmental defect during embryogenesis +GARD:0002542,GARD:0022531,GARD:0021683,GARD:0015760,Rare genetic disease +GARD:0002542,GARD:0022513,GARD:0021467,GARD:0016237,Rare developmental defect during embryogenesis +GARD:0002542,GARD:0022513,GARD:0021467,GARD:0016062,Rare developmental defect during embryogenesis +GARD:0002542,GARD:0022532,GARD:0021467,GARD:0016062,Rare urogenital disease +GARD:0002542,GARD:0022521,GARD:0019294,GARD:0015943,Rare endocrine disease +GARD:0002542,GARD:0022531,GARD:0019145,GARD:0016062,Rare genetic disease +GARD:0002542,GARD:0022521,GARD:0021467,GARD:0016062,Rare endocrine disease +GARD:0002542,GARD:0022513,GARD:0019145,GARD:0015760,Rare developmental defect during embryogenesis +GARD:0002542,GARD:0022531,GARD:0021683,GARD:0015943,Rare genetic disease +GARD:0002542,GARD:0022532,GARD:0021467,GARD:0015760,Rare urogenital disease +GARD:0002542,GARD:0022531,GARD:0018814,GARD:0015943,Rare genetic disease +GARD:0002542,GARD:0022513,GARD:0019145,GARD:0016062,Rare developmental defect during embryogenesis +GARD:0002542,GARD:0022531,GARD:0021467,GARD:0016237,Rare genetic disease +GARD:0002542,GARD:0022528,GARD:0019145,GARD:0016062,Rare otorhinolaryngologic disease +GARD:0002542,GARD:0022531,GARD:0021467,GARD:0015943,Rare genetic disease +GARD:0002542,GARD:0022514,GARD:0019294,GARD:0015882,Rare gynecologic or obstetric disease +GARD:0002542,GARD:0022508,GARD:0018814,GARD:0016062,Rare inborn errors of metabolism +GARD:0002542,GARD:0022529,GARD:0021683,GARD:0016237,Rare infertility +GARD:0002542,GARD:0022531,GARD:0021467,GARD:0016062,Rare genetic disease +GARD:0002542,GARD:0022521,GARD:0019294,GARD:0016062,Rare endocrine disease +GARD:0002542,GARD:0022531,GARD:0021683,GARD:0016237,Rare genetic disease +GARD:0002542,GARD:0022531,GARD:0021467,GARD:0015882,Rare genetic disease +GARD:0002542,GARD:0022531,GARD:0021683,GARD:0016062,Rare genetic disease +GARD:0002542,GARD:0022531,GARD:0021992,GARD:0015882,Rare genetic disease +GARD:0002542,GARD:0022531,GARD:0019145,GARD:0015943,Rare genetic disease +GARD:0002542,GARD:0022531,GARD:0021467,GARD:0015760,Rare genetic disease +GARD:0002542,GARD:0022532,GARD:0021467,GARD:0015882,Rare urogenital disease +GARD:0002542,GARD:0022514,GARD:0021479,GARD:0016062,Rare gynecologic or obstetric disease +GARD:0002542,GARD:0022521,GARD:0019294,GARD:0016237,Rare endocrine disease +GARD:0002542,GARD:0022531,GARD:0021992,GARD:0016237,Rare genetic disease +GARD:0002542,GARD:0022513,GARD:0021467,GARD:0015760,Rare developmental defect during embryogenesis +GARD:0002546,GARD:0022520,GARD:0022086,,Rare ophthalmic disorder +GARD:0002549,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002549,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0002549,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0002549,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002549,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0002551,GARD:0022527,GARD:0019983,,Rare circulatory system disease +GARD:0002551,GARD:0022536,GARD:0022292,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002551,GARD:0022536,GARD:0020939,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002551,GARD:0022517,GARD:0020939,,Rare respiratory disease +GARD:0002551,GARD:0022525,GARD:0019983,,Rare systemic or rheumatologic disease +GARD:0002551,GARD:0022512,GARD:0022292,,Rare renal disease +GARD:0002553,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0002553,GARD:0022531,GARD:0000786,,Rare genetic disease +GARD:0002553,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0002553,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002553,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0002553,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0002553,GARD:0022513,GARD:0000786,,Rare developmental defect during embryogenesis +GARD:0002553,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002557,GARD:0022512,GARD:0019233,,Rare renal disease +GARD:0002557,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0002557,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002557,GARD:0022535,GARD:0019233,,Rare neoplastic disease +GARD:0002557,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0002559,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0002559,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0002559,GARD:0022520,GARD:0022094,,Rare ophthalmic disorder +GARD:0002559,GARD:0022531,GARD:0022094,,Rare genetic disease +GARD:0002559,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0002562,GARD:0022522,GARD:0019469,GARD:0015117,Rare hematologic disease +GARD:0002562,GARD:0022531,GARD:0019469,GARD:0015117,Rare genetic disease +GARD:0002566,GARD:0022520,GARD:0010913,,Rare ophthalmic disorder +GARD:0002566,GARD:0022531,GARD:0010913,,Rare genetic disease +GARD:0002566,GARD:0022510,GARD:0010913,,Rare skin disease +GARD:0002566,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0002566,GARD:0022524,GARD:0019818,,Rare neurologic disease +GARD:0002566,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0002568,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0002568,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0002568,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0002572,GARD:0022531,GARD:0019194,,Rare genetic disease +GARD:0002572,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002572,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002572,GARD:0022511,GARD:0019194,,Rare bone disease +GARD:0002572,GARD:0022513,GARD:0019194,,Rare developmental defect during embryogenesis +GARD:0002572,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002576,GARD:0022531,GARD:0022094,,Rare genetic disease +GARD:0002576,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002576,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002576,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002576,GARD:0022520,GARD:0022094,,Rare ophthalmic disorder +GARD:0002578,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0002578,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0002578,GARD:0022531,GARD:0018952,,Rare genetic disease +GARD:0002578,GARD:0022508,GARD:0018952,,Rare inborn errors of metabolism +GARD:0002578,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0002578,GARD:0022524,GARD:0018952,,Rare neurologic disease +GARD:0002578,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0002579,GARD:0022520,GARD:0015012,,Rare ophthalmic disorder +GARD:0002579,GARD:0022513,GARD:0015012,,Rare developmental defect during embryogenesis +GARD:0002579,GARD:0022536,GARD:0015012,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002579,GARD:0022511,GARD:0015012,,Rare bone disease +GARD:0002579,GARD:0022531,GARD:0015012,,Rare genetic disease +GARD:0002580,GARD:0022531,GARD:0019521,,Rare genetic disease +GARD:0002580,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0002580,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0002580,GARD:0022520,GARD:0019521,,Rare ophthalmic disorder +GARD:0002586,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002586,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002586,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002589,GARD:0022531,GARD:0006034,,Rare genetic disease +GARD:0002589,GARD:0022524,GARD:0006034,,Rare neurologic disease +GARD:0002593,GARD:0022531,GARD:0021728,,Rare genetic disease +GARD:0002593,GARD:0022513,GARD:0019871,,Rare developmental defect during embryogenesis +GARD:0002594,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0002594,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002594,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002594,GARD:0022514,GARD:0020187,,Rare gynecologic or obstetric disease +GARD:0002594,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0002594,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0002597,GARD:0022531,GARD:0021728,,Rare genetic disease +GARD:0002597,GARD:0022513,GARD:0019871,,Rare developmental defect during embryogenesis +GARD:0002598,GARD:0022510,GARD:0019013,,Rare skin disease +GARD:0002598,GARD:0022531,GARD:0019013,,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021604,GARD:0015204,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020403,GARD:0016134,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0012588,GARD:0015625,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0020421,GARD:0015624,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012782,GARD:0015938,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0022109,GARD:0015626,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0021604,GARD:0016134,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0020404,GARD:0015829,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020424,GARD:0016294,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012588,GARD:0015846,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021604,GARD:0015626,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012782,GARD:0015624,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0022109,GARD:0015205,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0012588,GARD:0015898,Rare neurologic disease +GARD:0002599,GARD:0022508,GARD:0021340,GARD:0015625,Rare inborn errors of metabolism +GARD:0002599,GARD:0022513,GARD:0012588,GARD:0015829,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0021340,GARD:0015205,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012782,GARD:0015898,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020421,GARD:0016294,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020424,GARD:0015626,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012588,GARD:0015625,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0012588,GARD:0015625,Rare genetic disease +GARD:0002599,GARD:0022508,GARD:0021340,GARD:0015204,Rare inborn errors of metabolism +GARD:0002599,GARD:0022520,GARD:0022109,GARD:0015625,Rare ophthalmic disorder +GARD:0002599,GARD:0022508,GARD:0021340,GARD:0015626,Rare inborn errors of metabolism +GARD:0002599,GARD:0022508,GARD:0021340,GARD:0015624,Rare inborn errors of metabolism +GARD:0002599,GARD:0022520,GARD:0022109,GARD:0015898,Rare ophthalmic disorder +GARD:0002599,GARD:0022531,GARD:0020421,GARD:0015915,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012588,GARD:0015205,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0020424,GARD:0015205,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012782,GARD:0015626,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0021604,GARD:0015915,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0020423,GARD:0015898,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020424,GARD:0015927,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012782,GARD:0015829,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020421,GARD:0015205,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020423,GARD:0015204,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020403,GARD:0015624,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021604,GARD:0015624,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012588,GARD:0015626,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0022109,GARD:0015625,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020424,GARD:0015898,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012782,GARD:0015205,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020404,GARD:0015625,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020404,GARD:0015898,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021604,GARD:0015915,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020421,GARD:0015626,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0021604,GARD:0015625,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0020421,GARD:0015829,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021340,GARD:0015204,Rare genetic disease +GARD:0002599,GARD:0022520,GARD:0022109,GARD:0015204,Rare ophthalmic disorder +GARD:0002599,GARD:0022531,GARD:0020403,GARD:0015927,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012588,GARD:0015204,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0020424,GARD:0015829,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012782,GARD:0016134,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0020404,GARD:0015626,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020421,GARD:0015204,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021340,GARD:0015938,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020423,GARD:0015625,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012782,GARD:0015624,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0020403,GARD:0016294,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012588,GARD:0016294,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012782,GARD:0016134,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0021604,GARD:0015938,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0022109,GARD:0015624,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020421,GARD:0015625,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021604,GARD:0016294,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012782,GARD:0015205,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022508,GARD:0021340,GARD:0015915,Rare inborn errors of metabolism +GARD:0002599,GARD:0022524,GARD:0021604,GARD:0015204,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0020423,GARD:0015624,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021340,GARD:0016294,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021340,GARD:0015846,Rare genetic disease +GARD:0002599,GARD:0022508,GARD:0021340,GARD:0015898,Rare inborn errors of metabolism +GARD:0002599,GARD:0022531,GARD:0020424,GARD:0016134,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0012588,GARD:0015626,Rare neurologic disease +GARD:0002599,GARD:0022524,GARD:0012588,GARD:0015624,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0021340,GARD:0015625,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020403,GARD:0015846,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020424,GARD:0015915,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021604,GARD:0016134,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021604,GARD:0015205,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012588,GARD:0015846,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0020423,GARD:0016134,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012588,GARD:0015938,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012588,GARD:0015915,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0020423,GARD:0015927,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012588,GARD:0015898,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0022109,GARD:0016294,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0022109,GARD:0016134,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0021604,GARD:0015624,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0021604,GARD:0015625,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0022109,GARD:0015915,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021340,GARD:0015829,Rare genetic disease +GARD:0002599,GARD:0022508,GARD:0021340,GARD:0015829,Rare inborn errors of metabolism +GARD:0002599,GARD:0022513,GARD:0012782,GARD:0015938,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0020423,GARD:0015205,Rare genetic disease +GARD:0002599,GARD:0022508,GARD:0021340,GARD:0015846,Rare inborn errors of metabolism +GARD:0002599,GARD:0022531,GARD:0020423,GARD:0016294,Rare genetic disease +GARD:0002599,GARD:0022508,GARD:0021340,GARD:0016134,Rare inborn errors of metabolism +GARD:0002599,GARD:0022531,GARD:0020423,GARD:0015938,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0021604,GARD:0015898,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0020404,GARD:0015624,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021340,GARD:0015624,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020403,GARD:0015938,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012782,GARD:0015204,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0021340,GARD:0015626,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012588,GARD:0015204,Rare genetic disease +GARD:0002599,GARD:0022520,GARD:0022109,GARD:0015626,Rare ophthalmic disorder +GARD:0002599,GARD:0022531,GARD:0020423,GARD:0015915,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0012588,GARD:0016294,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0021604,GARD:0015829,Rare genetic disease +GARD:0002599,GARD:0022508,GARD:0021340,GARD:0015927,Rare inborn errors of metabolism +GARD:0002599,GARD:0022531,GARD:0012588,GARD:0015205,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012782,GARD:0015915,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022520,GARD:0022109,GARD:0015205,Rare ophthalmic disorder +GARD:0002599,GARD:0022508,GARD:0021340,GARD:0015938,Rare inborn errors of metabolism +GARD:0002599,GARD:0022531,GARD:0012588,GARD:0015829,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020421,GARD:0015938,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020424,GARD:0015204,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012782,GARD:0016294,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020424,GARD:0015846,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0021604,GARD:0015927,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0020404,GARD:0015927,Rare genetic disease +GARD:0002599,GARD:0022520,GARD:0022109,GARD:0016134,Rare ophthalmic disorder +GARD:0002599,GARD:0022520,GARD:0022109,GARD:0015915,Rare ophthalmic disorder +GARD:0002599,GARD:0022531,GARD:0020404,GARD:0015204,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021604,GARD:0015938,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012782,GARD:0015846,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0012782,GARD:0015846,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021340,GARD:0015898,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020404,GARD:0015846,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020421,GARD:0015846,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020403,GARD:0015829,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0022109,GARD:0015898,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012588,GARD:0015624,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022524,GARD:0012588,GARD:0015938,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0020404,GARD:0016294,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012588,GARD:0015898,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022524,GARD:0012588,GARD:0015846,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0020424,GARD:0015625,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020403,GARD:0015205,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020421,GARD:0015927,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012588,GARD:0015927,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0021604,GARD:0015829,Rare neurologic disease +GARD:0002599,GARD:0022524,GARD:0012588,GARD:0015927,Rare neurologic disease +GARD:0002599,GARD:0022524,GARD:0012588,GARD:0015829,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0020404,GARD:0015205,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0012588,GARD:0015915,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0021340,GARD:0015927,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012782,GARD:0015625,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0022109,GARD:0015204,Rare genetic disease +GARD:0002599,GARD:0022520,GARD:0022109,GARD:0016294,Rare ophthalmic disorder +GARD:0002599,GARD:0022531,GARD:0022109,GARD:0015829,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021340,GARD:0015915,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012782,GARD:0016294,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022520,GARD:0022109,GARD:0015938,Rare ophthalmic disorder +GARD:0002599,GARD:0022520,GARD:0022109,GARD:0015624,Rare ophthalmic disorder +GARD:0002599,GARD:0022531,GARD:0022109,GARD:0015938,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0021604,GARD:0015626,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0012588,GARD:0015626,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012782,GARD:0015829,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022520,GARD:0022109,GARD:0015829,Rare ophthalmic disorder +GARD:0002599,GARD:0022531,GARD:0021604,GARD:0015846,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020404,GARD:0015938,Rare genetic disease +GARD:0002599,GARD:0022508,GARD:0021340,GARD:0016294,Rare inborn errors of metabolism +GARD:0002599,GARD:0022513,GARD:0012782,GARD:0015626,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0021604,GARD:0015927,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0012588,GARD:0015205,Rare neurologic disease +GARD:0002599,GARD:0022513,GARD:0012588,GARD:0016294,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0012782,GARD:0015915,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012588,GARD:0015938,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0012782,GARD:0015927,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020403,GARD:0015915,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012782,GARD:0015625,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0020424,GARD:0015938,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020403,GARD:0015204,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020404,GARD:0016134,Rare genetic disease +GARD:0002599,GARD:0022520,GARD:0022109,GARD:0015846,Rare ophthalmic disorder +GARD:0002599,GARD:0022531,GARD:0020423,GARD:0015626,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012588,GARD:0015624,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021604,GARD:0015898,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0021604,GARD:0015205,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0012588,GARD:0015915,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012782,GARD:0015898,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0020404,GARD:0015915,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0021604,GARD:0015846,Rare neurologic disease +GARD:0002599,GARD:0022513,GARD:0012588,GARD:0015927,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0020424,GARD:0015624,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020423,GARD:0015846,Rare genetic disease +GARD:0002599,GARD:0022520,GARD:0022109,GARD:0015927,Rare ophthalmic disorder +GARD:0002599,GARD:0022531,GARD:0020403,GARD:0015625,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0012782,GARD:0015204,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0022109,GARD:0015927,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020403,GARD:0015626,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0021340,GARD:0016134,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012782,GARD:0015927,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022508,GARD:0021340,GARD:0015205,Rare inborn errors of metabolism +GARD:0002599,GARD:0022524,GARD:0012588,GARD:0015204,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0020423,GARD:0015829,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0022109,GARD:0015846,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0021604,GARD:0016294,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0012588,GARD:0016134,Rare genetic disease +GARD:0002599,GARD:0022513,GARD:0012588,GARD:0016134,Rare developmental defect during embryogenesis +GARD:0002599,GARD:0022531,GARD:0020421,GARD:0015898,Rare genetic disease +GARD:0002599,GARD:0022524,GARD:0012588,GARD:0016134,Rare neurologic disease +GARD:0002599,GARD:0022531,GARD:0020403,GARD:0015898,Rare genetic disease +GARD:0002599,GARD:0022531,GARD:0020421,GARD:0016134,Rare genetic disease +GARD:0002600,GARD:0022524,GARD:0019415,,Rare neurologic disease +GARD:0002600,GARD:0022531,GARD:0019415,,Rare genetic disease +GARD:0002601,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0002601,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002601,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0002601,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002601,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002605,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002605,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002610,GARD:0022531,GARD:0010005,,Rare genetic disease +GARD:0002610,GARD:0022515,GARD:0010005,,Rare cardiac disease +GARD:0002613,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0002613,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0002613,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0002613,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002613,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002613,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0002613,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0002613,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0002614,GARD:0022511,GARD:0020573,,Rare bone disease +GARD:0002614,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002614,GARD:0022531,GARD:0020573,,Rare genetic disease +GARD:0002614,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002614,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0002614,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0002614,GARD:0022513,GARD:0020573,,Rare developmental defect during embryogenesis +GARD:0002620,GARD:0022515,GARD:0020532,,Rare cardiac disease +GARD:0002620,GARD:0022515,GARD:0020535,,Rare cardiac disease +GARD:0002620,GARD:0022531,GARD:0020525,,Rare genetic disease +GARD:0002620,GARD:0022536,GARD:0021452,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002620,GARD:0022515,GARD:0021452,,Rare cardiac disease +GARD:0002620,GARD:0022531,GARD:0020532,,Rare genetic disease +GARD:0002620,GARD:0022515,GARD:0020525,,Rare cardiac disease +GARD:0002621,GARD:0022531,GARD:0000786,,Rare genetic disease +GARD:0002621,GARD:0022513,GARD:0000786,,Rare developmental defect during embryogenesis +GARD:0002622,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0002622,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0002622,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0002622,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0002622,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0002622,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0002627,GARD:0022535,GARD:0015014,,Rare neoplastic disease +GARD:0002630,GARD:0022513,GARD:0003342,,Rare developmental defect during embryogenesis +GARD:0002630,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0002630,GARD:0022531,GARD:0003342,,Rare genetic disease +GARD:0002630,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0002630,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0002630,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0002630,GARD:0022507,GARD:0003342,,Rare maxillo-facial surgical disease +GARD:0002633,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0002633,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002633,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0002633,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0002633,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0002633,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002637,GARD:0022524,GARD:0020088,,Rare neurologic disease +GARD:0002637,GARD:0022513,GARD:0022209,,Rare developmental defect during embryogenesis +GARD:0002637,GARD:0022531,GARD:0022209,,Rare genetic disease +GARD:0002637,GARD:0022524,GARD:0020338,,Rare neurologic disease +GARD:0002637,GARD:0022513,GARD:0020338,,Rare developmental defect during embryogenesis +GARD:0002637,GARD:0022531,GARD:0020088,,Rare genetic disease +GARD:0002638,GARD:0022531,GARD:0010768,,Rare genetic disease +GARD:0002638,GARD:0022524,GARD:0010768,,Rare neurologic disease +GARD:0002640,GARD:0022531,GARD:0021934,,Rare genetic disease +GARD:0002640,GARD:0022522,GARD:0018883,,Rare hematologic disease +GARD:0002640,GARD:0022536,GARD:0018883,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002641,GARD:0022522,GARD:0018883,,Rare hematologic disease +GARD:0002641,GARD:0022531,GARD:0021934,,Rare genetic disease +GARD:0002641,GARD:0022536,GARD:0018883,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002642,GARD:0022531,GARD:0020235,,Rare genetic disease +GARD:0002642,GARD:0022522,GARD:0020235,,Rare hematologic disease +GARD:0002642,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0002642,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0002642,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0002650,GARD:0022522,GARD:0020678,,Rare hematologic disease +GARD:0002651,GARD:0022506,GARD:0021257,,Rare hepatic disease +GARD:0002651,GARD:0022535,GARD:0021257,,Rare neoplastic disease +GARD:0002651,GARD:0022536,GARD:0021257,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002657,GARD:0022506,GARD:0021257,,Rare hepatic disease +GARD:0002657,GARD:0022535,GARD:0021257,,Rare neoplastic disease +GARD:0002657,GARD:0022536,GARD:0021257,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002658,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0002658,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0002658,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002658,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002658,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0002658,GARD:0022508,GARD:0021127,,Rare inborn errors of metabolism +GARD:0002658,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0002658,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0002658,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0002658,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0002658,GARD:0022531,GARD:0021127,,Rare genetic disease +GARD:0002658,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0002659,GARD:0022522,GARD:0018883,GARD:0015197,Rare hematologic disease +GARD:0002659,GARD:0022531,GARD:0021934,GARD:0015196,Rare genetic disease +GARD:0002659,GARD:0022524,GARD:0022440,GARD:0003909,Rare neurologic disease +GARD:0002659,GARD:0022524,GARD:0022440,GARD:0015196,Rare neurologic disease +GARD:0002659,GARD:0022536,GARD:0018883,GARD:0003909,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002659,GARD:0022531,GARD:0022440,GARD:0015197,Rare genetic disease +GARD:0002659,GARD:0022531,GARD:0022440,GARD:0015196,Rare genetic disease +GARD:0002659,GARD:0022522,GARD:0018883,GARD:0015196,Rare hematologic disease +GARD:0002659,GARD:0022536,GARD:0018883,GARD:0015197,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002659,GARD:0022524,GARD:0022440,GARD:0015197,Rare neurologic disease +GARD:0002659,GARD:0022536,GARD:0018883,GARD:0015196,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002659,GARD:0022522,GARD:0018883,GARD:0003909,Rare hematologic disease +GARD:0002659,GARD:0022531,GARD:0021934,GARD:0003909,Rare genetic disease +GARD:0002659,GARD:0022531,GARD:0021934,GARD:0015197,Rare genetic disease +GARD:0002659,GARD:0022531,GARD:0022440,GARD:0003909,Rare genetic disease +GARD:0002682,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0002682,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0002682,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0002684,GARD:0022531,GARD:0018873,,Rare genetic disease +GARD:0002684,GARD:0022522,GARD:0018873,,Rare hematologic disease +GARD:0002690,GARD:0022511,GARD:0019191,,Rare bone disease +GARD:0002690,GARD:0022531,GARD:0019191,,Rare genetic disease +GARD:0002690,GARD:0022513,GARD:0019191,,Rare developmental defect during embryogenesis +GARD:0002695,GARD:0022536,GARD:0019846,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002695,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0002695,GARD:0022516,GARD:0019846,,Rare gastroenterologic disease +GARD:0002695,GARD:0022531,GARD:0019846,,Rare genetic disease +GARD:0002695,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0002700,GARD:0022534,GARD:0022248,,Rare abdominal surgical disease +GARD:0002700,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002700,GARD:0022531,GARD:0019846,,Rare genetic disease +GARD:0002700,GARD:0022536,GARD:0022248,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002700,GARD:0022513,GARD:0022248,,Rare developmental defect during embryogenesis +GARD:0002700,GARD:0022531,GARD:0022248,,Rare genetic disease +GARD:0002700,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002700,GARD:0022536,GARD:0019846,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002700,GARD:0022516,GARD:0019846,,Rare gastroenterologic disease +GARD:0002706,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0002706,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0002708,GARD:0022508,GARD:0018959,,Rare inborn errors of metabolism +GARD:0002708,GARD:0022531,GARD:0018959,,Rare genetic disease +GARD:0002712,GARD:0022508,GARD:0021317,,Rare inborn errors of metabolism +GARD:0002712,GARD:0022531,GARD:0021317,,Rare genetic disease +GARD:0002714,GARD:0022535,GARD:0020548,GARD:0016529,Rare neoplastic disease +GARD:0002714,GARD:0022535,GARD:0021147,GARD:0019079,Rare neoplastic disease +GARD:0002714,GARD:0022522,GARD:0020548,GARD:0016529,Rare hematologic disease +GARD:0002714,GARD:0022535,GARD:0021147,GARD:0016529,Rare neoplastic disease +GARD:0002714,GARD:0022536,GARD:0020548,GARD:0019079,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002714,GARD:0022522,GARD:0020548,GARD:0019079,Rare hematologic disease +GARD:0002714,GARD:0022536,GARD:0020548,GARD:0016529,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002714,GARD:0022535,GARD:0020548,GARD:0019079,Rare neoplastic disease +GARD:0002721,GARD:0022510,GARD:0003824,,Rare skin disease +GARD:0002721,GARD:0022531,GARD:0003824,,Rare genetic disease +GARD:0002721,GARD:0022508,GARD:0003824,,Rare inborn errors of metabolism +GARD:0002722,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0002722,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0002725,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0002725,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002725,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0002725,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002725,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0002725,GARD:0022513,GARD:0022030,,Rare developmental defect during embryogenesis +GARD:0002725,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0002725,GARD:0022511,GARD:0022030,,Rare bone disease +GARD:0002725,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0002725,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002725,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0002725,GARD:0022531,GARD:0022030,,Rare genetic disease +GARD:0002725,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0002727,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002727,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0002727,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0002727,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002727,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002727,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002727,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0002728,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002728,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0002728,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002728,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0002728,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0002728,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0002734,GARD:0022508,GARD:0021131,,Rare inborn errors of metabolism +GARD:0002734,GARD:0022531,GARD:0020559,,Rare genetic disease +GARD:0002734,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0002734,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0002734,GARD:0022524,GARD:0020559,,Rare neurologic disease +GARD:0002734,GARD:0022531,GARD:0021131,,Rare genetic disease +GARD:0002742,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002742,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0002742,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0002742,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0002742,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0002742,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0002742,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0002742,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002748,GARD:0022511,GARD:0021183,,Rare bone disease +GARD:0002748,GARD:0022513,GARD:0021183,,Rare developmental defect during embryogenesis +GARD:0002748,GARD:0022531,GARD:0021183,,Rare genetic disease +GARD:0002749,GARD:0022531,GARD:0021183,,Rare genetic disease +GARD:0002749,GARD:0022513,GARD:0021183,,Rare developmental defect during embryogenesis +GARD:0002749,GARD:0022511,GARD:0021183,,Rare bone disease +GARD:0002750,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0002750,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0002750,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0002754,GARD:0022513,GARD:0019390,,Rare developmental defect during embryogenesis +GARD:0002756,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0002756,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0002756,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0002764,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0002765,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002765,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0002765,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002765,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0002765,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0002765,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002775,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0002775,GARD:0022521,GARD:0020233,,Rare endocrine disease +GARD:0002775,GARD:0022529,GARD:0020233,,Rare infertility +GARD:0002775,GARD:0022531,GARD:0020233,,Rare genetic disease +GARD:0002775,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0002775,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0002783,GARD:0022513,GARD:0022513,GARD:0017580,Rare developmental defect during embryogenesis +GARD:0002783,GARD:0022513,GARD:0022513,GARD:0021561,Rare developmental defect during embryogenesis +GARD:0002787,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0002788,GARD:0022525,GARD:0021315,,Rare systemic or rheumatologic disease +GARD:0002788,GARD:0022510,GARD:0021315,,Rare skin disease +GARD:0002788,GARD:0021079,GARD:0021315,,Rare systemic or rheumatological disease of childhood +GARD:0002788,GARD:0022531,GARD:0021315,,Rare genetic disease +GARD:0002788,GARD:0022513,GARD:0021315,,Rare developmental defect during embryogenesis +GARD:0002788,GARD:0022531,GARD:0021161,,Rare genetic disease +GARD:0002788,GARD:0022508,GARD:0021315,,Rare inborn errors of metabolism +GARD:0002788,GARD:0022523,GARD:0021161,,Rare immune disease +GARD:0002789,GARD:0022536,GARD:0020630,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002789,GARD:0022531,GARD:0020630,,Rare genetic disease +GARD:0002789,GARD:0022531,GARD:0021015,,Rare genetic disease +GARD:0002789,GARD:0022512,GARD:0020630,,Rare renal disease +GARD:0002789,GARD:0022521,GARD:0019765,,Rare endocrine disease +GARD:0002789,GARD:0022527,GARD:0020630,,Rare circulatory system disease +GARD:0002789,GARD:0022535,GARD:0019765,,Rare neoplastic disease +GARD:0002789,GARD:0022521,GARD:0020630,,Rare endocrine disease +GARD:0002790,GARD:0022512,GARD:0020630,,Rare renal disease +GARD:0002790,GARD:0022531,GARD:0020630,,Rare genetic disease +GARD:0002790,GARD:0022527,GARD:0020630,,Rare circulatory system disease +GARD:0002790,GARD:0022521,GARD:0020630,,Rare endocrine disease +GARD:0002790,GARD:0022536,GARD:0020630,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002791,GARD:0022531,GARD:0020004,,Rare genetic disease +GARD:0002791,GARD:0022506,GARD:0022506,,Rare hepatic disease +GARD:0002793,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0002793,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0002793,GARD:0022508,GARD:0021347,,Rare inborn errors of metabolism +GARD:0002793,GARD:0022531,GARD:0021347,,Rare genetic disease +GARD:0002796,GARD:0022517,GARD:0010828,,Rare respiratory disease +GARD:0002796,GARD:0022511,GARD:0010828,,Rare bone disease +GARD:0002796,GARD:0022531,GARD:0010828,,Rare genetic disease +GARD:0002796,GARD:0022536,GARD:0010828,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002796,GARD:0022521,GARD:0010828,,Rare endocrine disease +GARD:0002796,GARD:0022513,GARD:0010828,,Rare developmental defect during embryogenesis +GARD:0002804,GARD:0022535,GARD:0009319,GARD:0021395,Rare neoplastic disease +GARD:0002804,GARD:0022536,GARD:0009319,GARD:0016625,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002804,GARD:0022522,GARD:0009319,GARD:0021396,Rare hematologic disease +GARD:0002804,GARD:0022535,GARD:0009319,GARD:0016625,Rare neoplastic disease +GARD:0002804,GARD:0022522,GARD:0009319,GARD:0021395,Rare hematologic disease +GARD:0002804,GARD:0022536,GARD:0009319,GARD:0021396,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002804,GARD:0022535,GARD:0009319,GARD:0021396,Rare neoplastic disease +GARD:0002804,GARD:0022522,GARD:0009319,GARD:0016625,Rare hematologic disease +GARD:0002804,GARD:0022515,GARD:0020535,GARD:0021396,Rare cardiac disease +GARD:0002804,GARD:0022515,GARD:0020535,GARD:0021395,Rare cardiac disease +GARD:0002804,GARD:0022536,GARD:0009319,GARD:0021395,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002804,GARD:0022515,GARD:0020535,GARD:0016625,Rare cardiac disease +GARD:0002806,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0002806,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0002807,GARD:0022508,GARD:0021311,GARD:0017317,Rare inborn errors of metabolism +GARD:0002807,GARD:0022531,GARD:0021311,GARD:0017317,Rare genetic disease +GARD:0002807,GARD:0022508,GARD:0021311,GARD:0017316,Rare inborn errors of metabolism +GARD:0002807,GARD:0022531,GARD:0021311,GARD:0017316,Rare genetic disease +GARD:0002816,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0002816,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0002816,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002818,GARD:0022508,GARD:0021306,,Rare inborn errors of metabolism +GARD:0002818,GARD:0022513,GARD:0020067,,Rare developmental defect during embryogenesis +GARD:0002818,GARD:0022531,GARD:0020067,,Rare genetic disease +GARD:0002818,GARD:0022521,GARD:0020067,,Rare endocrine disease +GARD:0002818,GARD:0022531,GARD:0021306,,Rare genetic disease +GARD:0002824,GARD:0022531,GARD:0018991,,Rare genetic disease +GARD:0002824,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0002826,GARD:0022531,GARD:0019447,,Rare genetic disease +GARD:0002826,GARD:0022510,GARD:0019447,,Rare skin disease +GARD:0002828,GARD:0022531,GARD:0021155,GARD:0015183,Rare genetic disease +GARD:0002828,GARD:0022508,GARD:0021155,GARD:0015183,Rare inborn errors of metabolism +GARD:0002830,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0002830,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0002830,GARD:0022531,GARD:0007837,,Rare genetic disease +GARD:0002830,GARD:0022508,GARD:0007837,,Rare inborn errors of metabolism +GARD:0002831,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0002831,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0002831,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0002833,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0002833,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0002833,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0002835,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0002835,GARD:0022536,GARD:0016530,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002835,GARD:0022531,GARD:0016530,,Rare genetic disease +GARD:0002835,GARD:0022508,GARD:0012476,,Rare inborn errors of metabolism +GARD:0002835,GARD:0022536,GARD:0012476,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002835,GARD:0022512,GARD:0016530,,Rare renal disease +GARD:0002835,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0002835,GARD:0022531,GARD:0012476,,Rare genetic disease +GARD:0002835,GARD:0022508,GARD:0016530,,Rare inborn errors of metabolism +GARD:0002836,GARD:0022536,GARD:0016530,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002836,GARD:0022508,GARD:0016530,,Rare inborn errors of metabolism +GARD:0002836,GARD:0022531,GARD:0016530,,Rare genetic disease +GARD:0002836,GARD:0022512,GARD:0016530,,Rare renal disease +GARD:0002837,GARD:0022535,GARD:0019764,GARD:0010829,Rare neoplastic disease +GARD:0002837,GARD:0022535,GARD:0019764,GARD:0016923,Rare neoplastic disease +GARD:0002837,GARD:0022531,GARD:0020408,GARD:0003829,Rare genetic disease +GARD:0002837,GARD:0022531,GARD:0020408,GARD:0016923,Rare genetic disease +GARD:0002837,GARD:0022521,GARD:0019764,GARD:0010829,Rare endocrine disease +GARD:0002837,GARD:0022535,GARD:0019764,GARD:0003829,Rare neoplastic disease +GARD:0002837,GARD:0022521,GARD:0019764,GARD:0016923,Rare endocrine disease +GARD:0002837,GARD:0022521,GARD:0020225,GARD:0010829,Rare endocrine disease +GARD:0002837,GARD:0022531,GARD:0020408,GARD:0010829,Rare genetic disease +GARD:0002837,GARD:0022521,GARD:0020225,GARD:0016923,Rare endocrine disease +GARD:0002838,GARD:0022521,GARD:0020225,GARD:0016304,Rare endocrine disease +GARD:0002838,GARD:0022531,GARD:0020408,GARD:0016304,Rare genetic disease +GARD:0002838,GARD:0022513,GARD:0019202,GARD:0016304,Rare developmental defect during embryogenesis +GARD:0002838,GARD:0022531,GARD:0019202,GARD:0016304,Rare genetic disease +GARD:0002838,GARD:0022511,GARD:0019202,GARD:0016304,Rare bone disease +GARD:0002843,GARD:0022524,GARD:0007751,,Rare neurologic disease +GARD:0002843,GARD:0022531,GARD:0007751,,Rare genetic disease +GARD:0002843,GARD:0022508,GARD:0007751,,Rare inborn errors of metabolism +GARD:0002844,GARD:0022524,GARD:0007751,,Rare neurologic disease +GARD:0002844,GARD:0022531,GARD:0007751,,Rare genetic disease +GARD:0002844,GARD:0022508,GARD:0007751,,Rare inborn errors of metabolism +GARD:0002847,GARD:0022531,GARD:0020552,,Rare genetic disease +GARD:0002847,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0002847,GARD:0022531,GARD:0021157,,Rare genetic disease +GARD:0002847,GARD:0022508,GARD:0021157,,Rare inborn errors of metabolism +GARD:0002847,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0002847,GARD:0022524,GARD:0020552,,Rare neurologic disease +GARD:0002856,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0002856,GARD:0022513,GARD:0020702,,Rare developmental defect during embryogenesis +GARD:0002856,GARD:0022505,GARD:0020702,,Rare teratologic disease +GARD:0002856,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0002856,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0002858,GARD:0022521,GARD:0020222,,Rare endocrine disease +GARD:0002858,GARD:0022527,GARD:0020010,,Rare circulatory system disease +GARD:0002858,GARD:0022531,GARD:0020010,,Rare genetic disease +GARD:0002858,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002858,GARD:0022531,GARD:0020222,,Rare genetic disease +GARD:0002858,GARD:0022512,GARD:0020010,,Rare renal disease +GARD:0002863,GARD:0022510,GARD:0002865,,Rare skin disease +GARD:0002863,GARD:0022531,GARD:0002865,,Rare genetic disease +GARD:0002863,GARD:0022513,GARD:0002865,,Rare developmental defect during embryogenesis +GARD:0002864,GARD:0022510,GARD:0018996,,Rare skin disease +GARD:0002865,GARD:0022513,GARD:0006317,GARD:0008206,Rare developmental defect during embryogenesis +GARD:0002865,GARD:0022510,GARD:0018996,GARD:0002863,Rare skin disease +GARD:0002865,GARD:0022531,GARD:0006317,GARD:0002863,Rare genetic disease +GARD:0002865,GARD:0022531,GARD:0018996,GARD:0002863,Rare genetic disease +GARD:0002865,GARD:0022510,GARD:0018996,GARD:0008206,Rare skin disease +GARD:0002865,GARD:0022510,GARD:0006317,GARD:0002863,Rare skin disease +GARD:0002865,GARD:0022531,GARD:0018996,GARD:0008206,Rare genetic disease +GARD:0002865,GARD:0022513,GARD:0006317,GARD:0002863,Rare developmental defect during embryogenesis +GARD:0002865,GARD:0022510,GARD:0006317,GARD:0008206,Rare skin disease +GARD:0002865,GARD:0022531,GARD:0006317,GARD:0008206,Rare genetic disease +GARD:0002871,GARD:0022508,GARD:0021154,,Rare inborn errors of metabolism +GARD:0002871,GARD:0022531,GARD:0021154,,Rare genetic disease +GARD:0002872,GARD:0022508,GARD:0018801,,Rare inborn errors of metabolism +GARD:0002872,GARD:0022531,GARD:0018801,,Rare genetic disease +GARD:0002872,GARD:0022521,GARD:0018801,,Rare endocrine disease +GARD:0002876,GARD:0022531,GARD:0000005,,Rare genetic disease +GARD:0002876,GARD:0022524,GARD:0000005,,Rare neurologic disease +GARD:0002876,GARD:0022516,GARD:0000005,,Rare gastroenterologic disease +GARD:0002876,GARD:0022521,GARD:0000005,,Rare endocrine disease +GARD:0002876,GARD:0022508,GARD:0000005,,Rare inborn errors of metabolism +GARD:0002876,GARD:0022522,GARD:0000005,,Rare hematologic disease +GARD:0002876,GARD:0022520,GARD:0000005,,Rare ophthalmic disorder +GARD:0002877,GARD:0022520,GARD:0002910,GARD:0015951,Rare ophthalmic disorder +GARD:0002877,GARD:0022524,GARD:0020086,GARD:0015951,Rare neurologic disease +GARD:0002877,GARD:0022531,GARD:0002910,GARD:0015951,Rare genetic disease +GARD:0002877,GARD:0022521,GARD:0002910,GARD:0015951,Rare endocrine disease +GARD:0002877,GARD:0022531,GARD:0020086,GARD:0015951,Rare genetic disease +GARD:0002878,GARD:0022517,GARD:0010828,,Rare respiratory disease +GARD:0002878,GARD:0022531,GARD:0010828,,Rare genetic disease +GARD:0002878,GARD:0022513,GARD:0010828,,Rare developmental defect during embryogenesis +GARD:0002878,GARD:0022521,GARD:0010828,,Rare endocrine disease +GARD:0002878,GARD:0022511,GARD:0010828,,Rare bone disease +GARD:0002878,GARD:0022536,GARD:0010828,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002882,GARD:0022513,GARD:0019193,GARD:0000459,Rare developmental defect during embryogenesis +GARD:0002882,GARD:0022511,GARD:0019193,GARD:0000460,Rare bone disease +GARD:0002882,GARD:0022513,GARD:0019193,GARD:0016815,Rare developmental defect during embryogenesis +GARD:0002882,GARD:0022511,GARD:0019193,GARD:0008713,Rare bone disease +GARD:0002882,GARD:0022513,GARD:0019193,GARD:0000460,Rare developmental defect during embryogenesis +GARD:0002882,GARD:0022531,GARD:0019193,GARD:0000459,Rare genetic disease +GARD:0002882,GARD:0022513,GARD:0019193,GARD:0008713,Rare developmental defect during embryogenesis +GARD:0002882,GARD:0022531,GARD:0019193,GARD:0016815,Rare genetic disease +GARD:0002882,GARD:0022511,GARD:0019193,GARD:0016815,Rare bone disease +GARD:0002882,GARD:0022531,GARD:0019193,GARD:0000460,Rare genetic disease +GARD:0002882,GARD:0022511,GARD:0019193,GARD:0000459,Rare bone disease +GARD:0002882,GARD:0022531,GARD:0019193,GARD:0008713,Rare genetic disease +GARD:0002887,GARD:0022522,GARD:0002320,,Rare hematologic disease +GARD:0002887,GARD:0022531,GARD:0002320,,Rare genetic disease +GARD:0002897,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0002897,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0002897,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0002897,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015287,Rare cardiac disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015924,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015382,Rare cardiac disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015522,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015331,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015469,Rare cardiac disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015532,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0016305,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015434,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015588,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015689,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015832,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015689,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015469,Rare genetic disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015434,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015926,Rare genetic disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015469,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015382,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015627,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015522,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015323,Rare genetic disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015515,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015470,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015832,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015621,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015684,Rare genetic disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015543,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015690,Rare cardiac disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015621,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015522,Rare cardiac disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015639,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015726,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015531,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015397,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015916,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015621,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015470,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0012832,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015924,Rare cardiac disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015530,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015627,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015365,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015661,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015332,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015588,Rare genetic disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015726,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015621,Rare cardiac disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015323,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0012832,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0016031,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015531,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0005644,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015639,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015532,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0005644,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015397,Rare cardiac disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015332,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0016305,Rare cardiac disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0012832,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015916,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0001104,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015365,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015287,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015331,Rare cardiac disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015287,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0005644,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015397,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015365,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015434,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015323,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015661,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015434,Rare cardiac disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015323,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015661,Rare cardiac disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015661,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015832,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0001104,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015690,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015926,Rare cardiac disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0001104,Rare cardiac disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0012832,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015543,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015515,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015639,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015363,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0016031,Rare cardiac disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015413,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015916,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015532,Rare genetic disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015639,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015532,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015372,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015924,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015470,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015372,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015726,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015924,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015531,Rare cardiac disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015627,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015372,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015413,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015690,Rare genetic disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0016031,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015531,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015543,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015515,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015287,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015413,Rare genetic disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015690,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015684,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015382,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015627,Rare cardiac disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015397,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015689,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015926,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015832,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015332,Rare genetic disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015926,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015643,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015726,Rare genetic disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015372,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015588,Rare cardiac disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015689,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015332,Rare genetic disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0016305,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0005644,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015643,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015643,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015530,Rare genetic disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015363,Rare cardiac disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015363,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015469,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0016305,Rare genetic disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015363,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015916,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015530,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015331,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0016031,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015530,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015382,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015522,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0001104,Rare genetic disease +GARD:0002905,GARD:0022531,GARD:0020525,GARD:0015684,Rare genetic disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015365,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015470,Rare cardiac disease +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015413,Rare cardiac disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015331,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022531,GARD:0002031,GARD:0015543,Rare genetic disease +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015588,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015643,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022536,GARD:0022065,GARD:0015684,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002905,GARD:0022515,GARD:0020525,GARD:0015515,Rare cardiac disease +GARD:0002906,GARD:0022508,GARD:0021254,,Rare inborn errors of metabolism +GARD:0002906,GARD:0022512,GARD:0021254,,Rare renal disease +GARD:0002906,GARD:0022536,GARD:0021254,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002906,GARD:0022531,GARD:0021254,,Rare genetic disease +GARD:0002907,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002907,GARD:0022531,GARD:0020294,,Rare genetic disease +GARD:0002907,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002907,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002907,GARD:0022513,GARD:0019390,,Rare developmental defect during embryogenesis +GARD:0002908,GARD:0022514,GARD:0020187,,Rare gynecologic or obstetric disease +GARD:0002908,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002908,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0002908,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0002908,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0002908,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002910,GARD:0022531,GARD:0022170,GARD:0017088,Rare genetic disease +GARD:0002910,GARD:0022531,GARD:0020407,GARD:0016589,Rare genetic disease +GARD:0002910,GARD:0022521,GARD:0020224,GARD:0017088,Rare endocrine disease +GARD:0002910,GARD:0022531,GARD:0022170,GARD:0002877,Rare genetic disease +GARD:0002910,GARD:0022531,GARD:0022170,GARD:0016589,Rare genetic disease +GARD:0002910,GARD:0022520,GARD:0019527,GARD:0002877,Rare ophthalmic disorder +GARD:0002910,GARD:0022531,GARD:0020407,GARD:0017088,Rare genetic disease +GARD:0002910,GARD:0022520,GARD:0019527,GARD:0017088,Rare ophthalmic disorder +GARD:0002910,GARD:0022531,GARD:0020407,GARD:0002877,Rare genetic disease +GARD:0002910,GARD:0022520,GARD:0019527,GARD:0016589,Rare ophthalmic disorder +GARD:0002910,GARD:0022521,GARD:0020224,GARD:0002877,Rare endocrine disease +GARD:0002910,GARD:0022521,GARD:0020224,GARD:0016589,Rare endocrine disease +GARD:0002911,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002911,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0002911,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0002911,GARD:0022531,GARD:0020223,,Rare genetic disease +GARD:0002911,GARD:0022521,GARD:0020223,,Rare endocrine disease +GARD:0002911,GARD:0022531,GARD:0020814,,Rare genetic disease +GARD:0002911,GARD:0022513,GARD:0020814,,Rare developmental defect during embryogenesis +GARD:0002911,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0002911,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0002911,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0002911,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0002914,GARD:0022520,GARD:0016589,,Rare ophthalmic disorder +GARD:0002914,GARD:0022531,GARD:0016589,,Rare genetic disease +GARD:0002914,GARD:0022521,GARD:0016589,,Rare endocrine disease +GARD:0002922,GARD:0022513,GARD:0019269,GARD:0004600,Rare developmental defect during embryogenesis +GARD:0002922,GARD:0022519,GARD:0019269,GARD:0004721,Rare surgical cardiac disease +GARD:0002922,GARD:0022513,GARD:0019269,GARD:0004721,Rare developmental defect during embryogenesis +GARD:0002922,GARD:0022519,GARD:0019269,GARD:0004600,Rare surgical cardiac disease +GARD:0002926,GARD:0022522,GARD:0020121,,Rare hematologic disease +GARD:0002926,GARD:0022531,GARD:0020121,,Rare genetic disease +GARD:0002928,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0002928,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0002928,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0002928,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0002928,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0002928,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0002930,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0002930,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0002930,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0002930,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002930,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002943,GARD:0022531,GARD:0018890,GARD:0007226,Rare genetic disease +GARD:0002943,GARD:0022524,GARD:0022440,GARD:0007226,Rare neurologic disease +GARD:0002943,GARD:0022531,GARD:0019229,GARD:0007226,Rare genetic disease +GARD:0002943,GARD:0022512,GARD:0019229,GARD:0007226,Rare renal disease +GARD:0002943,GARD:0022531,GARD:0018965,GARD:0016710,Rare genetic disease +GARD:0002943,GARD:0022512,GARD:0019229,GARD:0016710,Rare renal disease +GARD:0002943,GARD:0022522,GARD:0019464,GARD:0007226,Rare hematologic disease +GARD:0002943,GARD:0022524,GARD:0022440,GARD:0016710,Rare neurologic disease +GARD:0002943,GARD:0022508,GARD:0018965,GARD:0016710,Rare inborn errors of metabolism +GARD:0002943,GARD:0022531,GARD:0022440,GARD:0007226,Rare genetic disease +GARD:0002943,GARD:0022536,GARD:0022061,GARD:0007226,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002943,GARD:0022536,GARD:0022061,GARD:0016710,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002943,GARD:0022531,GARD:0019229,GARD:0016710,Rare genetic disease +GARD:0002943,GARD:0022531,GARD:0019464,GARD:0007226,Rare genetic disease +GARD:0002943,GARD:0022531,GARD:0018890,GARD:0016710,Rare genetic disease +GARD:0002943,GARD:0022531,GARD:0022440,GARD:0016710,Rare genetic disease +GARD:0002943,GARD:0022508,GARD:0018965,GARD:0007226,Rare inborn errors of metabolism +GARD:0002943,GARD:0022531,GARD:0018965,GARD:0007226,Rare genetic disease +GARD:0002943,GARD:0022524,GARD:0018890,GARD:0016710,Rare neurologic disease +GARD:0002943,GARD:0022522,GARD:0019464,GARD:0016710,Rare hematologic disease +GARD:0002943,GARD:0022524,GARD:0018890,GARD:0007226,Rare neurologic disease +GARD:0002943,GARD:0022531,GARD:0019464,GARD:0016710,Rare genetic disease +GARD:0002945,GARD:0022531,GARD:0022440,GARD:0015751,Rare genetic disease +GARD:0002945,GARD:0022524,GARD:0022440,GARD:0015188,Rare neurologic disease +GARD:0002945,GARD:0022531,GARD:0020114,GARD:0016169,Rare genetic disease +GARD:0002945,GARD:0022531,GARD:0020114,GARD:0015751,Rare genetic disease +GARD:0002945,GARD:0022523,GARD:0020114,GARD:0015751,Rare immune disease +GARD:0002945,GARD:0022523,GARD:0020114,GARD:0016169,Rare immune disease +GARD:0002945,GARD:0022536,GARD:0020114,GARD:0015188,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002945,GARD:0022536,GARD:0020114,GARD:0015751,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002945,GARD:0022536,GARD:0020114,GARD:0016169,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002945,GARD:0022531,GARD:0022440,GARD:0016168,Rare genetic disease +GARD:0002945,GARD:0022524,GARD:0022440,GARD:0016169,Rare neurologic disease +GARD:0002945,GARD:0022523,GARD:0020114,GARD:0015188,Rare immune disease +GARD:0002945,GARD:0022536,GARD:0020114,GARD:0016168,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002945,GARD:0022524,GARD:0022440,GARD:0016168,Rare neurologic disease +GARD:0002945,GARD:0022531,GARD:0020114,GARD:0016168,Rare genetic disease +GARD:0002945,GARD:0022531,GARD:0020114,GARD:0015188,Rare genetic disease +GARD:0002945,GARD:0022524,GARD:0022440,GARD:0015751,Rare neurologic disease +GARD:0002945,GARD:0022523,GARD:0020114,GARD:0016168,Rare immune disease +GARD:0002945,GARD:0022531,GARD:0022440,GARD:0016169,Rare genetic disease +GARD:0002945,GARD:0022531,GARD:0022440,GARD:0015188,Rare genetic disease +GARD:0002946,GARD:0022510,GARD:0003113,,Rare skin disease +GARD:0002946,GARD:0022531,GARD:0003113,,Rare genetic disease +GARD:0002946,GARD:0022520,GARD:0003113,,Rare ophthalmic disorder +GARD:0002946,GARD:0022528,GARD:0003113,,Rare otorhinolaryngologic disease +GARD:0002946,GARD:0022513,GARD:0003113,,Rare developmental defect during embryogenesis +GARD:0002952,GARD:0022531,GARD:0021109,GARD:0016402,Rare genetic disease +GARD:0002952,GARD:0022531,GARD:0021109,GARD:0015297,Rare genetic disease +GARD:0002952,GARD:0022510,GARD:0018995,GARD:0015297,Rare skin disease +GARD:0002952,GARD:0022510,GARD:0018995,GARD:0016402,Rare skin disease +GARD:0002952,GARD:0022510,GARD:0021109,GARD:0015297,Rare skin disease +GARD:0002952,GARD:0022513,GARD:0019904,GARD:0016402,Rare developmental defect during embryogenesis +GARD:0002952,GARD:0022531,GARD:0021987,GARD:0016402,Rare genetic disease +GARD:0002952,GARD:0022531,GARD:0019904,GARD:0015297,Rare genetic disease +GARD:0002952,GARD:0022513,GARD:0019904,GARD:0015297,Rare developmental defect during embryogenesis +GARD:0002952,GARD:0022531,GARD:0021987,GARD:0015297,Rare genetic disease +GARD:0002952,GARD:0022531,GARD:0019904,GARD:0016402,Rare genetic disease +GARD:0002952,GARD:0022510,GARD:0021109,GARD:0016402,Rare skin disease +GARD:0002954,GARD:0022531,GARD:0021107,,Rare genetic disease +GARD:0002954,GARD:0022510,GARD:0021107,,Rare skin disease +GARD:0002960,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0002960,GARD:0022510,GARD:0021114,,Rare skin disease +GARD:0002960,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0002960,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0002960,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0002960,GARD:0022531,GARD:0021114,,Rare genetic disease +GARD:0002966,GARD:0022510,GARD:0021107,,Rare skin disease +GARD:0002966,GARD:0022531,GARD:0021107,,Rare genetic disease +GARD:0002978,GARD:0022531,GARD:0016482,,Rare genetic disease +GARD:0002978,GARD:0022513,GARD:0016485,,Rare developmental defect during embryogenesis +GARD:0002978,GARD:0022513,GARD:0016482,,Rare developmental defect during embryogenesis +GARD:0002978,GARD:0022520,GARD:0016482,,Rare ophthalmic disorder +GARD:0002978,GARD:0022531,GARD:0016485,,Rare genetic disease +GARD:0002978,GARD:0022520,GARD:0016485,,Rare ophthalmic disorder +GARD:0002981,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0002981,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0002981,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0002982,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0002982,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0002982,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0002984,GARD:0022523,GARD:0006140,,Rare immune disease +GARD:0002984,GARD:0022531,GARD:0006140,,Rare genetic disease +GARD:0002984,GARD:0022535,GARD:0006140,,Rare neoplastic disease +GARD:0002988,GARD:0022523,GARD:0021406,,Rare immune disease +GARD:0002988,GARD:0022536,GARD:0021406,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0002988,GARD:0022531,GARD:0021406,,Rare genetic disease +GARD:0002989,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0002989,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0002989,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0002995,GARD:0022524,GARD:0019436,,Rare neurologic disease +GARD:0002998,GARD:0022535,GARD:0018907,GARD:0015939,Rare neoplastic disease +GARD:0002998,GARD:0022531,GARD:0020276,GARD:0015939,Rare genetic disease +GARD:0002998,GARD:0022531,GARD:0021011,GARD:0015939,Rare genetic disease +GARD:0002998,GARD:0022535,GARD:0019014,GARD:0015939,Rare neoplastic disease +GARD:0002998,GARD:0022510,GARD:0019014,GARD:0015939,Rare skin disease +GARD:0002998,GARD:0022524,GARD:0020375,GARD:0015939,Rare neurologic disease +GARD:0003002,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0003002,GARD:0022531,GARD:0020083,,Rare genetic disease +GARD:0003002,GARD:0022524,GARD:0020083,,Rare neurologic disease +GARD:0003002,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0003006,GARD:0022524,GARD:0019929,,Rare neurologic disease +GARD:0003006,GARD:0022531,GARD:0019929,,Rare genetic disease +GARD:0003006,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003006,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003007,GARD:0022531,GARD:0019524,GARD:0015758,Rare genetic disease +GARD:0003007,GARD:0022520,GARD:0019528,GARD:0016240,Rare ophthalmic disorder +GARD:0003007,GARD:0022531,GARD:0020259,GARD:0016240,Rare genetic disease +GARD:0003007,GARD:0022531,GARD:0020259,GARD:0015758,Rare genetic disease +GARD:0003007,GARD:0022531,GARD:0018874,GARD:0016240,Rare genetic disease +GARD:0003007,GARD:0022524,GARD:0019832,GARD:0015758,Rare neurologic disease +GARD:0003007,GARD:0022531,GARD:0019528,GARD:0015758,Rare genetic disease +GARD:0003007,GARD:0022535,GARD:0020259,GARD:0015758,Rare neoplastic disease +GARD:0003007,GARD:0022520,GARD:0019524,GARD:0016240,Rare ophthalmic disorder +GARD:0003007,GARD:0022535,GARD:0020259,GARD:0016240,Rare neoplastic disease +GARD:0003007,GARD:0022524,GARD:0019832,GARD:0016240,Rare neurologic disease +GARD:0003007,GARD:0022531,GARD:0019524,GARD:0016240,Rare genetic disease +GARD:0003007,GARD:0022513,GARD:0018874,GARD:0015758,Rare developmental defect during embryogenesis +GARD:0003007,GARD:0022513,GARD:0019832,GARD:0016240,Rare developmental defect during embryogenesis +GARD:0003007,GARD:0022531,GARD:0018874,GARD:0015758,Rare genetic disease +GARD:0003007,GARD:0022520,GARD:0019528,GARD:0015758,Rare ophthalmic disorder +GARD:0003007,GARD:0022531,GARD:0022441,GARD:0015758,Rare genetic disease +GARD:0003007,GARD:0022520,GARD:0019524,GARD:0015758,Rare ophthalmic disorder +GARD:0003007,GARD:0022531,GARD:0019528,GARD:0016240,Rare genetic disease +GARD:0003007,GARD:0022513,GARD:0019832,GARD:0015758,Rare developmental defect during embryogenesis +GARD:0003007,GARD:0022531,GARD:0022441,GARD:0016240,Rare genetic disease +GARD:0003007,GARD:0022513,GARD:0018874,GARD:0016240,Rare developmental defect during embryogenesis +GARD:0003008,GARD:0022531,GARD:0021693,,Rare genetic disease +GARD:0003008,GARD:0022521,GARD:0020214,,Rare endocrine disease +GARD:0003008,GARD:0022531,GARD:0020214,,Rare genetic disease +GARD:0003008,GARD:0022529,GARD:0021682,,Rare infertility +GARD:0003009,GARD:0022531,GARD:0020214,,Rare genetic disease +GARD:0003009,GARD:0022521,GARD:0020214,,Rare endocrine disease +GARD:0003010,GARD:0022516,GARD:0022053,,Rare gastroenterologic disease +GARD:0003010,GARD:0022521,GARD:0022053,,Rare endocrine disease +GARD:0003010,GARD:0022535,GARD:0022053,,Rare neoplastic disease +GARD:0003012,GARD:0022527,GARD:0021917,,Rare circulatory system disease +GARD:0003012,GARD:0022513,GARD:0021917,,Rare developmental defect during embryogenesis +GARD:0003012,GARD:0022524,GARD:0019819,,Rare neurologic disease +GARD:0003013,GARD:0022531,GARD:0021510,,Rare genetic disease +GARD:0003013,GARD:0022536,GARD:0019859,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003013,GARD:0022531,GARD:0019859,,Rare genetic disease +GARD:0003013,GARD:0022534,GARD:0019859,,Rare abdominal surgical disease +GARD:0003013,GARD:0022513,GARD:0019859,,Rare developmental defect during embryogenesis +GARD:0003013,GARD:0022523,GARD:0021510,,Rare immune disease +GARD:0003013,GARD:0022536,GARD:0022063,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003017,GARD:0022534,GARD:0016592,,Rare abdominal surgical disease +GARD:0003017,GARD:0022531,GARD:0016592,,Rare genetic disease +GARD:0003017,GARD:0022536,GARD:0016592,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003017,GARD:0022516,GARD:0016592,,Rare gastroenterologic disease +GARD:0003017,GARD:0022513,GARD:0016592,,Rare developmental defect during embryogenesis +GARD:0003020,GARD:0022531,GARD:0020459,,Rare genetic disease +GARD:0003020,GARD:0022531,GARD:0021614,,Rare genetic disease +GARD:0003020,GARD:0022524,GARD:0019819,,Rare neurologic disease +GARD:0003020,GARD:0022527,GARD:0020464,,Rare circulatory system disease +GARD:0003020,GARD:0022513,GARD:0020464,,Rare developmental defect during embryogenesis +GARD:0003024,GARD:0022522,GARD:0019462,GARD:0015190,Rare hematologic disease +GARD:0003024,GARD:0022508,GARD:0018951,GARD:0015190,Rare inborn errors of metabolism +GARD:0003024,GARD:0022531,GARD:0019462,GARD:0015190,Rare genetic disease +GARD:0003024,GARD:0022531,GARD:0018951,GARD:0015190,Rare genetic disease +GARD:0003026,GARD:0022531,GARD:0016482,,Rare genetic disease +GARD:0003026,GARD:0022513,GARD:0016482,,Rare developmental defect during embryogenesis +GARD:0003026,GARD:0022520,GARD:0016482,,Rare ophthalmic disorder +GARD:0003030,GARD:0022513,GARD:0019209,,Rare developmental defect during embryogenesis +GARD:0003030,GARD:0022511,GARD:0019209,,Rare bone disease +GARD:0003030,GARD:0022531,GARD:0019209,,Rare genetic disease +GARD:0003033,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0003045,GARD:0022520,GARD:0017032,,Rare ophthalmic disorder +GARD:0003045,GARD:0022524,GARD:0004938,,Rare neurologic disease +GARD:0003045,GARD:0022531,GARD:0017032,,Rare genetic disease +GARD:0003045,GARD:0022520,GARD:0004938,,Rare ophthalmic disorder +GARD:0003045,GARD:0022508,GARD:0017032,,Rare inborn errors of metabolism +GARD:0003045,GARD:0022531,GARD:0004938,,Rare genetic disease +GARD:0003045,GARD:0022524,GARD:0017032,,Rare neurologic disease +GARD:0003045,GARD:0022508,GARD:0004938,,Rare inborn errors of metabolism +GARD:0003047,GARD:0022531,GARD:0018685,,Rare genetic disease +GARD:0003047,GARD:0022511,GARD:0018685,,Rare bone disease +GARD:0003047,GARD:0022531,GARD:0021577,,Rare genetic disease +GARD:0003047,GARD:0022513,GARD:0018685,,Rare developmental defect during embryogenesis +GARD:0003048,GARD:0022528,GARD:0019145,GARD:0010364,Rare otorhinolaryngologic disease +GARD:0003048,GARD:0022515,GARD:0016547,GARD:0010364,Rare cardiac disease +GARD:0003048,GARD:0022531,GARD:0019145,GARD:0010364,Rare genetic disease +GARD:0003048,GARD:0022531,GARD:0016547,GARD:0010364,Rare genetic disease +GARD:0003048,GARD:0022513,GARD:0019145,GARD:0010364,Rare developmental defect during embryogenesis +GARD:0003049,GARD:0022511,GARD:0018726,GARD:0015511,Rare bone disease +GARD:0003049,GARD:0022517,GARD:0018726,GARD:0015613,Rare respiratory disease +GARD:0003049,GARD:0022513,GARD:0018726,GARD:0015140,Rare developmental defect during embryogenesis +GARD:0003049,GARD:0022517,GARD:0018726,GARD:0015140,Rare respiratory disease +GARD:0003049,GARD:0022531,GARD:0019986,GARD:0015996,Rare genetic disease +GARD:0003049,GARD:0022512,GARD:0019230,GARD:0016079,Rare renal disease +GARD:0003049,GARD:0022531,GARD:0019987,GARD:0015613,Rare genetic disease +GARD:0003049,GARD:0022512,GARD:0019230,GARD:0015613,Rare renal disease +GARD:0003049,GARD:0022511,GARD:0018726,GARD:0015140,Rare bone disease +GARD:0003049,GARD:0022513,GARD:0018726,GARD:0015795,Rare developmental defect during embryogenesis +GARD:0003049,GARD:0022517,GARD:0018726,GARD:0015996,Rare respiratory disease +GARD:0003049,GARD:0022511,GARD:0018726,GARD:0015718,Rare bone disease +GARD:0003049,GARD:0022536,GARD:0022061,GARD:0016079,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003049,GARD:0022531,GARD:0019986,GARD:0015993,Rare genetic disease +GARD:0003049,GARD:0022531,GARD:0020306,GARD:0016079,Rare genetic disease +GARD:0003049,GARD:0022531,GARD:0020306,GARD:0015511,Rare genetic disease +GARD:0003049,GARD:0022517,GARD:0018726,GARD:0015993,Rare respiratory disease +GARD:0003049,GARD:0022531,GARD:0019987,GARD:0015993,Rare genetic disease +GARD:0003049,GARD:0022536,GARD:0022061,GARD:0015996,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003049,GARD:0022531,GARD:0020306,GARD:0015613,Rare genetic disease +GARD:0003049,GARD:0022512,GARD:0019230,GARD:0015511,Rare renal disease +GARD:0003049,GARD:0022513,GARD:0018726,GARD:0015996,Rare developmental defect during embryogenesis +GARD:0003049,GARD:0022511,GARD:0018726,GARD:0015613,Rare bone disease +GARD:0003049,GARD:0022517,GARD:0018726,GARD:0016185,Rare respiratory disease +GARD:0003049,GARD:0022531,GARD:0019987,GARD:0016185,Rare genetic disease +GARD:0003049,GARD:0022512,GARD:0019230,GARD:0015993,Rare renal disease +GARD:0003049,GARD:0022531,GARD:0018726,GARD:0016079,Rare genetic disease +GARD:0003049,GARD:0022512,GARD:0019230,GARD:0015996,Rare renal disease +GARD:0003049,GARD:0022531,GARD:0019986,GARD:0015613,Rare genetic disease +GARD:0003049,GARD:0022531,GARD:0018726,GARD:0016185,Rare genetic disease +GARD:0003049,GARD:0022511,GARD:0018726,GARD:0015795,Rare bone disease +GARD:0003049,GARD:0022512,GARD:0019230,GARD:0016185,Rare renal disease +GARD:0003049,GARD:0022531,GARD:0020306,GARD:0015993,Rare genetic disease +GARD:0003049,GARD:0022536,GARD:0022061,GARD:0016185,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003049,GARD:0022531,GARD:0018726,GARD:0015140,Rare genetic disease +GARD:0003049,GARD:0022513,GARD:0018726,GARD:0016185,Rare developmental defect during embryogenesis +GARD:0003049,GARD:0022513,GARD:0018726,GARD:0015613,Rare developmental defect during embryogenesis +GARD:0003049,GARD:0022536,GARD:0022061,GARD:0015795,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003049,GARD:0022531,GARD:0020306,GARD:0015996,Rare genetic disease +GARD:0003049,GARD:0022531,GARD:0018726,GARD:0015511,Rare genetic disease +GARD:0003049,GARD:0022512,GARD:0019230,GARD:0015718,Rare renal disease +GARD:0003049,GARD:0022517,GARD:0018726,GARD:0015718,Rare respiratory disease +GARD:0003049,GARD:0022531,GARD:0019987,GARD:0015511,Rare genetic disease +GARD:0003049,GARD:0022536,GARD:0022061,GARD:0015993,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003049,GARD:0022512,GARD:0019230,GARD:0015795,Rare renal disease +GARD:0003049,GARD:0022517,GARD:0018726,GARD:0016079,Rare respiratory disease +GARD:0003049,GARD:0022531,GARD:0019987,GARD:0015996,Rare genetic disease +GARD:0003049,GARD:0022513,GARD:0018726,GARD:0015511,Rare developmental defect during embryogenesis +GARD:0003049,GARD:0022531,GARD:0019987,GARD:0015140,Rare genetic disease +GARD:0003049,GARD:0022531,GARD:0019986,GARD:0015140,Rare genetic disease +GARD:0003049,GARD:0022512,GARD:0019230,GARD:0015140,Rare renal disease +GARD:0003049,GARD:0022531,GARD:0020306,GARD:0016185,Rare genetic disease +GARD:0003049,GARD:0022511,GARD:0018726,GARD:0016079,Rare bone disease +GARD:0003049,GARD:0022513,GARD:0018726,GARD:0015993,Rare developmental defect during embryogenesis +GARD:0003049,GARD:0022531,GARD:0019986,GARD:0015795,Rare genetic disease +GARD:0003049,GARD:0022511,GARD:0018726,GARD:0016185,Rare bone disease +GARD:0003049,GARD:0022536,GARD:0022061,GARD:0015718,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003049,GARD:0022531,GARD:0019987,GARD:0015795,Rare genetic disease +GARD:0003049,GARD:0022531,GARD:0020306,GARD:0015718,Rare genetic disease +GARD:0003049,GARD:0022511,GARD:0018726,GARD:0015993,Rare bone disease +GARD:0003049,GARD:0022531,GARD:0019986,GARD:0016185,Rare genetic disease +GARD:0003049,GARD:0022531,GARD:0019987,GARD:0015718,Rare genetic disease +GARD:0003049,GARD:0022536,GARD:0022061,GARD:0015613,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003049,GARD:0022531,GARD:0019986,GARD:0015718,Rare genetic disease +GARD:0003049,GARD:0022513,GARD:0018726,GARD:0015718,Rare developmental defect during embryogenesis +GARD:0003049,GARD:0022531,GARD:0019987,GARD:0016079,Rare genetic disease +GARD:0003049,GARD:0022531,GARD:0019986,GARD:0016079,Rare genetic disease +GARD:0003049,GARD:0022531,GARD:0018726,GARD:0015718,Rare genetic disease +GARD:0003049,GARD:0022517,GARD:0018726,GARD:0015511,Rare respiratory disease +GARD:0003049,GARD:0022536,GARD:0022061,GARD:0015140,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003049,GARD:0022531,GARD:0018726,GARD:0015996,Rare genetic disease +GARD:0003049,GARD:0022531,GARD:0018726,GARD:0015613,Rare genetic disease +GARD:0003049,GARD:0022531,GARD:0019986,GARD:0015511,Rare genetic disease +GARD:0003049,GARD:0022513,GARD:0018726,GARD:0016079,Rare developmental defect during embryogenesis +GARD:0003049,GARD:0022531,GARD:0020306,GARD:0015140,Rare genetic disease +GARD:0003049,GARD:0022531,GARD:0020306,GARD:0015795,Rare genetic disease +GARD:0003049,GARD:0022511,GARD:0018726,GARD:0015996,Rare bone disease +GARD:0003049,GARD:0022531,GARD:0018726,GARD:0015795,Rare genetic disease +GARD:0003049,GARD:0022517,GARD:0018726,GARD:0015795,Rare respiratory disease +GARD:0003049,GARD:0022536,GARD:0022061,GARD:0015511,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003049,GARD:0022531,GARD:0018726,GARD:0015993,Rare genetic disease +GARD:0003051,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0003051,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0003051,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0003053,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0003053,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0003054,GARD:0022531,GARD:0019905,,Rare genetic disease +GARD:0003054,GARD:0022510,GARD:0020574,,Rare skin disease +GARD:0003054,GARD:0022531,GARD:0021018,,Rare genetic disease +GARD:0003054,GARD:0022513,GARD:0019905,,Rare developmental defect during embryogenesis +GARD:0003054,GARD:0022531,GARD:0020574,,Rare genetic disease +GARD:0003054,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0003054,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0003054,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0003056,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0003056,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0003056,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0003056,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0003056,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0003056,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0003060,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0003060,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0003060,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003060,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0003060,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003060,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0003062,GARD:0022520,GARD:0022084,,Rare ophthalmic disorder +GARD:0003062,GARD:0022513,GARD:0022084,,Rare developmental defect during embryogenesis +GARD:0003062,GARD:0022521,GARD:0020137,,Rare endocrine disease +GARD:0003062,GARD:0022531,GARD:0022084,,Rare genetic disease +GARD:0003062,GARD:0022531,GARD:0020137,,Rare genetic disease +GARD:0003065,GARD:0022535,GARD:0019847,GARD:0017508,Rare neoplastic disease +GARD:0003065,GARD:0022516,GARD:0019847,GARD:0017508,Rare gastroenterologic disease +GARD:0003065,GARD:0022531,GARD:0021548,GARD:0017508,Rare genetic disease +GARD:0003065,GARD:0022536,GARD:0019847,GARD:0017508,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003065,GARD:0022531,GARD:0021548,GARD:0016696,Rare genetic disease +GARD:0003065,GARD:0022531,GARD:0019847,GARD:0017508,Rare genetic disease +GARD:0003065,GARD:0022531,GARD:0019847,GARD:0016696,Rare genetic disease +GARD:0003065,GARD:0022536,GARD:0019847,GARD:0016696,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003065,GARD:0022535,GARD:0019847,GARD:0016696,Rare neoplastic disease +GARD:0003065,GARD:0022516,GARD:0019847,GARD:0016696,Rare gastroenterologic disease +GARD:0003066,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0003066,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0003066,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0003066,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0003066,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0003068,GARD:0022527,GARD:0019981,,Rare circulatory system disease +GARD:0003068,GARD:0022525,GARD:0019981,,Rare systemic or rheumatologic disease +GARD:0003070,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0003070,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0003070,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0003070,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0003070,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0003070,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0003070,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0003070,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0003071,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0003071,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0003071,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0003071,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0003071,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0003071,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0003071,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0003071,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0003073,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0003073,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0003073,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0003073,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0003073,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0003073,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0003073,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0003073,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0003074,GARD:0022511,GARD:0019195,GARD:0015688,Rare bone disease +GARD:0003074,GARD:0022531,GARD:0019195,GARD:0015688,Rare genetic disease +GARD:0003074,GARD:0022513,GARD:0019195,GARD:0015688,Rare developmental defect during embryogenesis +GARD:0003075,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0003075,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0003075,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003075,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003075,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0003077,GARD:0022535,GARD:0020458,,Rare neoplastic disease +GARD:0003077,GARD:0022527,GARD:0020458,,Rare circulatory system disease +GARD:0003077,GARD:0022535,GARD:0018907,,Rare neoplastic disease +GARD:0003077,GARD:0022513,GARD:0020458,,Rare developmental defect during embryogenesis +GARD:0003078,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0003078,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0003078,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0003078,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003078,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0003078,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003078,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003084,GARD:0022520,GARD:0019505,,Rare ophthalmic disorder +GARD:0003084,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003084,GARD:0022513,GARD:0019505,,Rare developmental defect during embryogenesis +GARD:0003084,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003084,GARD:0022531,GARD:0019505,,Rare genetic disease +GARD:0003084,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003086,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003086,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0003086,GARD:0022513,GARD:0021467,,Rare developmental defect during embryogenesis +GARD:0003086,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003086,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0003086,GARD:0022531,GARD:0021467,,Rare genetic disease +GARD:0003086,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0003086,GARD:0022532,GARD:0021467,,Rare urogenital disease +GARD:0003086,GARD:0022521,GARD:0021467,,Rare endocrine disease +GARD:0003086,GARD:0022518,GARD:0020212,,Rare surgical thoracic disease +GARD:0003086,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0003086,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0003086,GARD:0022514,GARD:0020187,,Rare gynecologic or obstetric disease +GARD:0003086,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0003089,GARD:0022531,GARD:0022179,,Rare genetic disease +GARD:0003089,GARD:0022520,GARD:0022091,,Rare ophthalmic disorder +GARD:0003090,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0003090,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0003090,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0003092,GARD:0022510,GARD:0021292,,Rare skin disease +GARD:0003092,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0003092,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0003092,GARD:0022531,GARD:0021292,,Rare genetic disease +GARD:0003092,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0003094,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0003094,GARD:0022510,GARD:0019448,,Rare skin disease +GARD:0003094,GARD:0022531,GARD:0019448,,Rare genetic disease +GARD:0003094,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0003094,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0003095,GARD:0022510,GARD:0021301,,Rare skin disease +GARD:0003095,GARD:0022531,GARD:0021301,,Rare genetic disease +GARD:0003096,GARD:0022510,GARD:0019447,,Rare skin disease +GARD:0003096,GARD:0022531,GARD:0019447,,Rare genetic disease +GARD:0003098,GARD:0022510,GARD:0019449,,Rare skin disease +GARD:0003098,GARD:0022531,GARD:0019449,,Rare genetic disease +GARD:0003099,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003099,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003099,GARD:0022531,GARD:0018991,,Rare genetic disease +GARD:0003099,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003099,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0003100,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0003100,GARD:0022510,GARD:0021293,,Rare skin disease +GARD:0003100,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0003100,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0003100,GARD:0022531,GARD:0020321,,Rare genetic disease +GARD:0003100,GARD:0022531,GARD:0021293,,Rare genetic disease +GARD:0003100,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0003100,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0003100,GARD:0022531,GARD:0021334,,Rare genetic disease +GARD:0003100,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0003100,GARD:0022508,GARD:0021334,,Rare inborn errors of metabolism +GARD:0003100,GARD:0022523,GARD:0020321,,Rare immune disease +GARD:0003102,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0003102,GARD:0022531,GARD:0020061,,Rare genetic disease +GARD:0003102,GARD:0022516,GARD:0019786,,Rare gastroenterologic disease +GARD:0003102,GARD:0022510,GARD:0019449,,Rare skin disease +GARD:0003102,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0003102,GARD:0022531,GARD:0019449,,Rare genetic disease +GARD:0003103,GARD:0022531,GARD:0018768,GARD:0015081,Rare genetic disease +GARD:0003103,GARD:0022510,GARD:0018768,GARD:0015081,Rare skin disease +GARD:0003103,GARD:0022531,GARD:0018768,GARD:0015884,Rare genetic disease +GARD:0003103,GARD:0022510,GARD:0018768,GARD:0015884,Rare skin disease +GARD:0003105,GARD:0022510,GARD:0019451,,Rare skin disease +GARD:0003105,GARD:0022508,GARD:0021127,,Rare inborn errors of metabolism +GARD:0003105,GARD:0022531,GARD:0019451,,Rare genetic disease +GARD:0003105,GARD:0022520,GARD:0022090,,Rare ophthalmic disorder +GARD:0003105,GARD:0022531,GARD:0022175,,Rare genetic disease +GARD:0003105,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003105,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003105,GARD:0022531,GARD:0021127,,Rare genetic disease +GARD:0003109,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0003112,GARD:0022536,GARD:0020133,GARD:0021252,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003112,GARD:0022522,GARD:0020133,GARD:0021252,Rare hematologic disease +GARD:0003112,GARD:0022535,GARD:0020133,GARD:0021251,Rare neoplastic disease +GARD:0003112,GARD:0022535,GARD:0020133,GARD:0021252,Rare neoplastic disease +GARD:0003112,GARD:0022522,GARD:0020133,GARD:0021251,Rare hematologic disease +GARD:0003112,GARD:0022536,GARD:0020133,GARD:0021251,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003113,GARD:0022531,GARD:0021293,GARD:0002946,Rare genetic disease +GARD:0003113,GARD:0022510,GARD:0021293,GARD:0015349,Rare skin disease +GARD:0003113,GARD:0022520,GARD:0022091,GARD:0002946,Rare ophthalmic disorder +GARD:0003113,GARD:0022510,GARD:0019448,GARD:0015349,Rare skin disease +GARD:0003113,GARD:0022531,GARD:0019145,GARD:0002946,Rare genetic disease +GARD:0003113,GARD:0022531,GARD:0021293,GARD:0015349,Rare genetic disease +GARD:0003113,GARD:0022510,GARD:0021114,GARD:0015349,Rare skin disease +GARD:0003113,GARD:0022531,GARD:0022179,GARD:0002946,Rare genetic disease +GARD:0003113,GARD:0022531,GARD:0006317,GARD:0015349,Rare genetic disease +GARD:0003113,GARD:0022510,GARD:0021293,GARD:0002946,Rare skin disease +GARD:0003113,GARD:0022528,GARD:0019145,GARD:0015349,Rare otorhinolaryngologic disease +GARD:0003113,GARD:0022531,GARD:0006317,GARD:0002946,Rare genetic disease +GARD:0003113,GARD:0022531,GARD:0022179,GARD:0015349,Rare genetic disease +GARD:0003113,GARD:0022510,GARD:0021114,GARD:0002946,Rare skin disease +GARD:0003113,GARD:0022513,GARD:0019145,GARD:0002946,Rare developmental defect during embryogenesis +GARD:0003113,GARD:0022531,GARD:0019448,GARD:0002946,Rare genetic disease +GARD:0003113,GARD:0022531,GARD:0019448,GARD:0015349,Rare genetic disease +GARD:0003113,GARD:0022510,GARD:0006317,GARD:0002946,Rare skin disease +GARD:0003113,GARD:0022513,GARD:0006317,GARD:0002946,Rare developmental defect during embryogenesis +GARD:0003113,GARD:0022531,GARD:0021114,GARD:0002946,Rare genetic disease +GARD:0003113,GARD:0022513,GARD:0006317,GARD:0015349,Rare developmental defect during embryogenesis +GARD:0003113,GARD:0022510,GARD:0006317,GARD:0015349,Rare skin disease +GARD:0003113,GARD:0022520,GARD:0022091,GARD:0015349,Rare ophthalmic disorder +GARD:0003113,GARD:0022513,GARD:0019145,GARD:0015349,Rare developmental defect during embryogenesis +GARD:0003113,GARD:0022531,GARD:0019145,GARD:0015349,Rare genetic disease +GARD:0003113,GARD:0022510,GARD:0019448,GARD:0002946,Rare skin disease +GARD:0003113,GARD:0022531,GARD:0021114,GARD:0015349,Rare genetic disease +GARD:0003113,GARD:0022528,GARD:0019145,GARD:0002946,Rare otorhinolaryngologic disease +GARD:0003117,GARD:0022524,GARD:0018879,,Rare neurologic disease +GARD:0003118,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0003118,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0003118,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0003122,GARD:0022531,GARD:0021922,GARD:0009787,Rare genetic disease +GARD:0003122,GARD:0022531,GARD:0020273,GARD:0009787,Rare genetic disease +GARD:0003122,GARD:0022531,GARD:0019213,GARD:0016788,Rare genetic disease +GARD:0003122,GARD:0022527,GARD:0020465,GARD:0016788,Rare circulatory system disease +GARD:0003122,GARD:0022513,GARD:0020465,GARD:0009787,Rare developmental defect during embryogenesis +GARD:0003122,GARD:0022513,GARD:0019213,GARD:0016788,Rare developmental defect during embryogenesis +GARD:0003122,GARD:0022531,GARD:0019431,GARD:0016788,Rare genetic disease +GARD:0003122,GARD:0022511,GARD:0020629,GARD:0016788,Rare bone disease +GARD:0003122,GARD:0022531,GARD:0020273,GARD:0016788,Rare genetic disease +GARD:0003122,GARD:0022513,GARD:0020465,GARD:0016788,Rare developmental defect during embryogenesis +GARD:0003122,GARD:0022513,GARD:0019431,GARD:0009787,Rare developmental defect during embryogenesis +GARD:0003122,GARD:0022510,GARD:0019008,GARD:0016788,Rare skin disease +GARD:0003122,GARD:0022513,GARD:0019431,GARD:0016788,Rare developmental defect during embryogenesis +GARD:0003122,GARD:0022511,GARD:0020629,GARD:0009787,Rare bone disease +GARD:0003122,GARD:0022513,GARD:0019213,GARD:0009787,Rare developmental defect during embryogenesis +GARD:0003122,GARD:0022531,GARD:0020629,GARD:0009787,Rare genetic disease +GARD:0003122,GARD:0022531,GARD:0019431,GARD:0009787,Rare genetic disease +GARD:0003122,GARD:0022531,GARD:0020629,GARD:0016788,Rare genetic disease +GARD:0003122,GARD:0022520,GARD:0019527,GARD:0009787,Rare ophthalmic disorder +GARD:0003122,GARD:0022531,GARD:0022170,GARD:0009787,Rare genetic disease +GARD:0003122,GARD:0022531,GARD:0021922,GARD:0016788,Rare genetic disease +GARD:0003122,GARD:0022510,GARD:0019008,GARD:0009787,Rare skin disease +GARD:0003122,GARD:0022531,GARD:0022170,GARD:0016788,Rare genetic disease +GARD:0003122,GARD:0022520,GARD:0019527,GARD:0016788,Rare ophthalmic disorder +GARD:0003122,GARD:0022531,GARD:0019213,GARD:0009787,Rare genetic disease +GARD:0003122,GARD:0022527,GARD:0020465,GARD:0009787,Rare circulatory system disease +GARD:0003124,GARD:0022531,GARD:0019215,,Rare genetic disease +GARD:0003124,GARD:0022513,GARD:0019215,,Rare developmental defect during embryogenesis +GARD:0003124,GARD:0022511,GARD:0019215,,Rare bone disease +GARD:0003125,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0003125,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0003125,GARD:0022531,GARD:0019448,,Rare genetic disease +GARD:0003125,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0003125,GARD:0022510,GARD:0019448,,Rare skin disease +GARD:0003126,GARD:0022510,GARD:0011962,,Rare skin disease +GARD:0003126,GARD:0022531,GARD:0011962,,Rare genetic disease +GARD:0003126,GARD:0022521,GARD:0011962,,Rare endocrine disease +GARD:0003126,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0003126,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0003126,GARD:0022531,GARD:0021242,,Rare genetic disease +GARD:0003128,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0003128,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0003128,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003128,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0003128,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003128,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0003128,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0003128,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0003129,GARD:0022524,GARD:0021281,GARD:0016284,Rare neurologic disease +GARD:0003129,GARD:0022524,GARD:0018890,GARD:0016284,Rare neurologic disease +GARD:0003129,GARD:0022524,GARD:0018979,GARD:0015826,Rare neurologic disease +GARD:0003129,GARD:0022531,GARD:0020287,GARD:0015825,Rare genetic disease +GARD:0003129,GARD:0022531,GARD:0019572,GARD:0015826,Rare genetic disease +GARD:0003129,GARD:0022508,GARD:0018979,GARD:0015826,Rare inborn errors of metabolism +GARD:0003129,GARD:0022531,GARD:0018979,GARD:0015826,Rare genetic disease +GARD:0003129,GARD:0022531,GARD:0019572,GARD:0016284,Rare genetic disease +GARD:0003129,GARD:0022508,GARD:0018979,GARD:0015825,Rare inborn errors of metabolism +GARD:0003129,GARD:0022531,GARD:0018979,GARD:0015825,Rare genetic disease +GARD:0003129,GARD:0022531,GARD:0020287,GARD:0015826,Rare genetic disease +GARD:0003129,GARD:0022524,GARD:0018979,GARD:0015825,Rare neurologic disease +GARD:0003129,GARD:0022524,GARD:0021281,GARD:0015825,Rare neurologic disease +GARD:0003129,GARD:0022524,GARD:0018890,GARD:0015825,Rare neurologic disease +GARD:0003129,GARD:0022531,GARD:0020287,GARD:0016284,Rare genetic disease +GARD:0003129,GARD:0022524,GARD:0021281,GARD:0015826,Rare neurologic disease +GARD:0003129,GARD:0022531,GARD:0018890,GARD:0015825,Rare genetic disease +GARD:0003129,GARD:0022524,GARD:0018979,GARD:0016284,Rare neurologic disease +GARD:0003129,GARD:0022531,GARD:0018890,GARD:0015826,Rare genetic disease +GARD:0003129,GARD:0022531,GARD:0018979,GARD:0016284,Rare genetic disease +GARD:0003129,GARD:0022524,GARD:0018890,GARD:0015826,Rare neurologic disease +GARD:0003129,GARD:0022531,GARD:0019572,GARD:0015825,Rare genetic disease +GARD:0003129,GARD:0022508,GARD:0018979,GARD:0016284,Rare inborn errors of metabolism +GARD:0003129,GARD:0022531,GARD:0018890,GARD:0016284,Rare genetic disease +GARD:0003141,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003141,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003141,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003150,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0003150,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0003159,GARD:0022508,GARD:0018973,GARD:0003160,Rare inborn errors of metabolism +GARD:0003159,GARD:0022531,GARD:0018973,GARD:0003161,Rare genetic disease +GARD:0003159,GARD:0022508,GARD:0018973,GARD:0003161,Rare inborn errors of metabolism +GARD:0003159,GARD:0022531,GARD:0018973,GARD:0003160,Rare genetic disease +GARD:0003160,GARD:0022531,GARD:0003159,,Rare genetic disease +GARD:0003160,GARD:0022508,GARD:0003159,,Rare inborn errors of metabolism +GARD:0003160,GARD:0022524,GARD:0020370,,Rare neurologic disease +GARD:0003160,GARD:0022531,GARD:0020370,,Rare genetic disease +GARD:0003161,GARD:0022508,GARD:0003159,,Rare inborn errors of metabolism +GARD:0003161,GARD:0022531,GARD:0003159,,Rare genetic disease +GARD:0003163,GARD:0022524,GARD:0017225,,Rare neurologic disease +GARD:0003163,GARD:0022531,GARD:0017225,,Rare genetic disease +GARD:0003163,GARD:0022508,GARD:0017225,,Rare inborn errors of metabolism +GARD:0003169,GARD:0022507,GARD:0019994,,Rare maxillo-facial surgical disease +GARD:0003169,GARD:0022511,GARD:0019994,,Rare bone disease +GARD:0003169,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0003169,GARD:0022513,GARD:0019994,,Rare developmental defect during embryogenesis +GARD:0003169,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0003169,GARD:0022531,GARD:0019994,,Rare genetic disease +GARD:0003169,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003169,GARD:0022528,GARD:0019994,,Rare otorhinolaryngologic disease +GARD:0003169,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003169,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003170,GARD:0022513,GARD:0010803,,Rare developmental defect during embryogenesis +GARD:0003170,GARD:0022510,GARD:0010803,,Rare skin disease +GARD:0003170,GARD:0022520,GARD:0010803,,Rare ophthalmic disorder +GARD:0003170,GARD:0022531,GARD:0010803,,Rare genetic disease +GARD:0003178,GARD:0022522,GARD:0021245,GARD:0021250,Rare hematologic disease +GARD:0003178,GARD:0022535,GARD:0021245,GARD:0021246,Rare neoplastic disease +GARD:0003178,GARD:0022536,GARD:0021245,GARD:0021564,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003178,GARD:0022522,GARD:0021245,GARD:0019589,Rare hematologic disease +GARD:0003178,GARD:0022536,GARD:0021245,GARD:0021250,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003178,GARD:0022536,GARD:0021245,GARD:0021150,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003178,GARD:0022522,GARD:0021245,GARD:0012257,Rare hematologic disease +GARD:0003178,GARD:0022522,GARD:0021245,GARD:0019590,Rare hematologic disease +GARD:0003178,GARD:0022522,GARD:0021245,GARD:0021150,Rare hematologic disease +GARD:0003178,GARD:0022535,GARD:0021245,GARD:0021564,Rare neoplastic disease +GARD:0003178,GARD:0022535,GARD:0021245,GARD:0021150,Rare neoplastic disease +GARD:0003178,GARD:0022535,GARD:0021245,GARD:0019590,Rare neoplastic disease +GARD:0003178,GARD:0022522,GARD:0021245,GARD:0006943,Rare hematologic disease +GARD:0003178,GARD:0022536,GARD:0021245,GARD:0019590,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003178,GARD:0022536,GARD:0021245,GARD:0021246,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003178,GARD:0022535,GARD:0021245,GARD:0019589,Rare neoplastic disease +GARD:0003178,GARD:0022535,GARD:0021245,GARD:0012257,Rare neoplastic disease +GARD:0003178,GARD:0022535,GARD:0021245,GARD:0006943,Rare neoplastic disease +GARD:0003178,GARD:0022536,GARD:0021245,GARD:0012257,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003178,GARD:0022536,GARD:0021245,GARD:0019589,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003178,GARD:0022522,GARD:0021245,GARD:0021564,Rare hematologic disease +GARD:0003178,GARD:0022535,GARD:0021245,GARD:0021250,Rare neoplastic disease +GARD:0003178,GARD:0022536,GARD:0021245,GARD:0006943,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003178,GARD:0022522,GARD:0021245,GARD:0021246,Rare hematologic disease +GARD:0003181,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0003181,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0003181,GARD:0022513,GARD:0019905,,Rare developmental defect during embryogenesis +GARD:0003181,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0003181,GARD:0022531,GARD:0019905,,Rare genetic disease +GARD:0003188,GARD:0022518,GARD:0019867,GARD:0019236,Rare surgical thoracic disease +GARD:0003188,GARD:0022528,GARD:0020001,GARD:0019238,Rare otorhinolaryngologic disease +GARD:0003188,GARD:0022513,GARD:0019867,GARD:0016833,Rare developmental defect during embryogenesis +GARD:0003188,GARD:0022513,GARD:0019867,GARD:0021072,Rare developmental defect during embryogenesis +GARD:0003188,GARD:0022534,GARD:0019855,GARD:0016833,Rare abdominal surgical disease +GARD:0003188,GARD:0022534,GARD:0019855,GARD:0019236,Rare abdominal surgical disease +GARD:0003188,GARD:0022513,GARD:0019855,GARD:0019238,Rare developmental defect during embryogenesis +GARD:0003188,GARD:0022513,GARD:0019867,GARD:0019238,Rare developmental defect during embryogenesis +GARD:0003188,GARD:0022513,GARD:0019855,GARD:0021072,Rare developmental defect during embryogenesis +GARD:0003188,GARD:0022534,GARD:0019855,GARD:0019237,Rare abdominal surgical disease +GARD:0003188,GARD:0022518,GARD:0019867,GARD:0021072,Rare surgical thoracic disease +GARD:0003188,GARD:0022528,GARD:0020001,GARD:0016833,Rare otorhinolaryngologic disease +GARD:0003188,GARD:0022513,GARD:0020001,GARD:0016833,Rare developmental defect during embryogenesis +GARD:0003188,GARD:0022517,GARD:0020249,GARD:0019237,Rare respiratory disease +GARD:0003188,GARD:0022513,GARD:0019867,GARD:0019236,Rare developmental defect during embryogenesis +GARD:0003188,GARD:0022513,GARD:0019855,GARD:0019236,Rare developmental defect during embryogenesis +GARD:0003188,GARD:0022513,GARD:0019867,GARD:0019237,Rare developmental defect during embryogenesis +GARD:0003188,GARD:0022513,GARD:0020001,GARD:0021072,Rare developmental defect during embryogenesis +GARD:0003188,GARD:0022517,GARD:0020249,GARD:0019236,Rare respiratory disease +GARD:0003188,GARD:0022513,GARD:0019855,GARD:0019237,Rare developmental defect during embryogenesis +GARD:0003188,GARD:0022518,GARD:0019867,GARD:0019238,Rare surgical thoracic disease +GARD:0003188,GARD:0022528,GARD:0020001,GARD:0019236,Rare otorhinolaryngologic disease +GARD:0003188,GARD:0022528,GARD:0020001,GARD:0021072,Rare otorhinolaryngologic disease +GARD:0003188,GARD:0022517,GARD:0020249,GARD:0021072,Rare respiratory disease +GARD:0003188,GARD:0022517,GARD:0020249,GARD:0019238,Rare respiratory disease +GARD:0003188,GARD:0022513,GARD:0020001,GARD:0019237,Rare developmental defect during embryogenesis +GARD:0003188,GARD:0022513,GARD:0020001,GARD:0019236,Rare developmental defect during embryogenesis +GARD:0003188,GARD:0022518,GARD:0019867,GARD:0016833,Rare surgical thoracic disease +GARD:0003188,GARD:0022534,GARD:0019855,GARD:0021072,Rare abdominal surgical disease +GARD:0003188,GARD:0022513,GARD:0020001,GARD:0019238,Rare developmental defect during embryogenesis +GARD:0003188,GARD:0022528,GARD:0020001,GARD:0019237,Rare otorhinolaryngologic disease +GARD:0003188,GARD:0022518,GARD:0019867,GARD:0019237,Rare surgical thoracic disease +GARD:0003188,GARD:0022517,GARD:0020249,GARD:0016833,Rare respiratory disease +GARD:0003188,GARD:0022534,GARD:0019855,GARD:0019238,Rare abdominal surgical disease +GARD:0003188,GARD:0022513,GARD:0019855,GARD:0016833,Rare developmental defect during embryogenesis +GARD:0003191,GARD:0022528,GARD:0020001,,Rare otorhinolaryngologic disease +GARD:0003191,GARD:0022513,GARD:0020001,,Rare developmental defect during embryogenesis +GARD:0003194,GARD:0022528,GARD:0020001,,Rare otorhinolaryngologic disease +GARD:0003194,GARD:0022513,GARD:0020001,,Rare developmental defect during embryogenesis +GARD:0003194,GARD:0022531,GARD:0021811,,Rare genetic disease +GARD:0003195,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0003195,GARD:0022510,GARD:0020744,,Rare skin disease +GARD:0003196,GARD:0022531,GARD:0011897,,Rare genetic disease +GARD:0003196,GARD:0022520,GARD:0011897,,Rare ophthalmic disorder +GARD:0003203,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0003203,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003203,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003203,GARD:0022531,GARD:0021284,,Rare genetic disease +GARD:0003212,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0003212,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003212,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003212,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0003212,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0003212,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0003223,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0003223,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003223,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0003223,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003223,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003223,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0003224,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0003224,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0003224,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0003227,GARD:0022513,GARD:0012643,,Rare developmental defect during embryogenesis +GARD:0003227,GARD:0022517,GARD:0020248,,Rare respiratory disease +GARD:0003227,GARD:0022531,GARD:0019867,,Rare genetic disease +GARD:0003227,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003227,GARD:0022513,GARD:0019868,,Rare developmental defect during embryogenesis +GARD:0003227,GARD:0022518,GARD:0019868,,Rare surgical thoracic disease +GARD:0003227,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003227,GARD:0022531,GARD:0012643,,Rare genetic disease +GARD:0003228,GARD:0022508,GARD:0018971,GARD:0017265,Rare inborn errors of metabolism +GARD:0003228,GARD:0022531,GARD:0018971,GARD:0017264,Rare genetic disease +GARD:0003228,GARD:0022508,GARD:0018971,GARD:0017263,Rare inborn errors of metabolism +GARD:0003228,GARD:0022531,GARD:0018971,GARD:0017263,Rare genetic disease +GARD:0003228,GARD:0022508,GARD:0018971,GARD:0017266,Rare inborn errors of metabolism +GARD:0003228,GARD:0022508,GARD:0018971,GARD:0017264,Rare inborn errors of metabolism +GARD:0003228,GARD:0022531,GARD:0018971,GARD:0017266,Rare genetic disease +GARD:0003228,GARD:0022531,GARD:0018971,GARD:0017265,Rare genetic disease +GARD:0003230,GARD:0022524,GARD:0019490,GARD:0021330,Rare neurologic disease +GARD:0003230,GARD:0022524,GARD:0019490,GARD:0021329,Rare neurologic disease +GARD:0003230,GARD:0022524,GARD:0021615,GARD:0021329,Rare neurologic disease +GARD:0003230,GARD:0022531,GARD:0007672,GARD:0021328,Rare genetic disease +GARD:0003230,GARD:0022524,GARD:0020382,GARD:0021329,Rare neurologic disease +GARD:0003230,GARD:0022524,GARD:0018890,GARD:0021328,Rare neurologic disease +GARD:0003230,GARD:0022524,GARD:0018890,GARD:0021330,Rare neurologic disease +GARD:0003230,GARD:0022531,GARD:0007672,GARD:0021330,Rare genetic disease +GARD:0003230,GARD:0022531,GARD:0019490,GARD:0021328,Rare genetic disease +GARD:0003230,GARD:0022531,GARD:0020382,GARD:0021328,Rare genetic disease +GARD:0003230,GARD:0022531,GARD:0021845,GARD:0021328,Rare genetic disease +GARD:0003230,GARD:0022524,GARD:0019490,GARD:0021328,Rare neurologic disease +GARD:0003230,GARD:0022524,GARD:0021615,GARD:0021330,Rare neurologic disease +GARD:0003230,GARD:0022520,GARD:0021845,GARD:0021330,Rare ophthalmic disorder +GARD:0003230,GARD:0022531,GARD:0020382,GARD:0021330,Rare genetic disease +GARD:0003230,GARD:0022524,GARD:0018890,GARD:0021329,Rare neurologic disease +GARD:0003230,GARD:0022524,GARD:0006895,GARD:0021329,Rare neurologic disease +GARD:0003230,GARD:0022531,GARD:0018890,GARD:0021329,Rare genetic disease +GARD:0003230,GARD:0022531,GARD:0006895,GARD:0021328,Rare genetic disease +GARD:0003230,GARD:0022531,GARD:0021845,GARD:0021330,Rare genetic disease +GARD:0003230,GARD:0022531,GARD:0021845,GARD:0021329,Rare genetic disease +GARD:0003230,GARD:0022524,GARD:0021615,GARD:0021328,Rare neurologic disease +GARD:0003230,GARD:0022536,GARD:0007672,GARD:0021330,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003230,GARD:0022531,GARD:0021615,GARD:0021328,Rare genetic disease +GARD:0003230,GARD:0022531,GARD:0018890,GARD:0021328,Rare genetic disease +GARD:0003230,GARD:0022524,GARD:0006895,GARD:0021328,Rare neurologic disease +GARD:0003230,GARD:0022524,GARD:0006895,GARD:0021330,Rare neurologic disease +GARD:0003230,GARD:0022536,GARD:0007672,GARD:0021329,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003230,GARD:0022508,GARD:0007672,GARD:0021328,Rare inborn errors of metabolism +GARD:0003230,GARD:0022520,GARD:0021845,GARD:0021328,Rare ophthalmic disorder +GARD:0003230,GARD:0022524,GARD:0020382,GARD:0021330,Rare neurologic disease +GARD:0003230,GARD:0022524,GARD:0020382,GARD:0021328,Rare neurologic disease +GARD:0003230,GARD:0022536,GARD:0007672,GARD:0021328,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003230,GARD:0022508,GARD:0007672,GARD:0021329,Rare inborn errors of metabolism +GARD:0003230,GARD:0022531,GARD:0021615,GARD:0021330,Rare genetic disease +GARD:0003230,GARD:0022520,GARD:0021845,GARD:0021329,Rare ophthalmic disorder +GARD:0003230,GARD:0022531,GARD:0019490,GARD:0021329,Rare genetic disease +GARD:0003230,GARD:0022531,GARD:0021615,GARD:0021329,Rare genetic disease +GARD:0003230,GARD:0022531,GARD:0006895,GARD:0021330,Rare genetic disease +GARD:0003230,GARD:0022531,GARD:0018890,GARD:0021330,Rare genetic disease +GARD:0003230,GARD:0022531,GARD:0007672,GARD:0021329,Rare genetic disease +GARD:0003230,GARD:0022508,GARD:0007672,GARD:0021330,Rare inborn errors of metabolism +GARD:0003230,GARD:0022531,GARD:0020382,GARD:0021329,Rare genetic disease +GARD:0003230,GARD:0022531,GARD:0006895,GARD:0021329,Rare genetic disease +GARD:0003230,GARD:0022531,GARD:0019490,GARD:0021330,Rare genetic disease +GARD:0003231,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0003231,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0003232,GARD:0022510,GARD:0021302,,Rare skin disease +GARD:0003232,GARD:0022531,GARD:0021302,,Rare genetic disease +GARD:0003236,GARD:0022531,GARD:0022158,,Rare genetic disease +GARD:0003236,GARD:0022520,GARD:0022118,,Rare ophthalmic disorder +GARD:0003236,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003236,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003236,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003242,GARD:0022513,GARD:0021189,,Rare developmental defect during embryogenesis +GARD:0003242,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003242,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003242,GARD:0022531,GARD:0021189,,Rare genetic disease +GARD:0003242,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003242,GARD:0022507,GARD:0021189,,Rare maxillo-facial surgical disease +GARD:0003242,GARD:0022528,GARD:0021189,,Rare otorhinolaryngologic disease +GARD:0003242,GARD:0022520,GARD:0021189,,Rare ophthalmic disorder +GARD:0003244,GARD:0022529,GARD:0021672,GARD:0010127,Rare infertility +GARD:0003244,GARD:0022521,GARD:0021471,GARD:0016851,Rare endocrine disease +GARD:0003244,GARD:0022531,GARD:0021471,GARD:0016851,Rare genetic disease +GARD:0003244,GARD:0022529,GARD:0021672,GARD:0016852,Rare infertility +GARD:0003244,GARD:0022532,GARD:0021471,GARD:0016852,Rare urogenital disease +GARD:0003244,GARD:0022513,GARD:0021471,GARD:0016852,Rare developmental defect during embryogenesis +GARD:0003244,GARD:0022521,GARD:0021471,GARD:0010127,Rare endocrine disease +GARD:0003244,GARD:0022536,GARD:0021471,GARD:0010127,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003244,GARD:0022536,GARD:0021471,GARD:0016851,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003244,GARD:0022531,GARD:0021471,GARD:0016852,Rare genetic disease +GARD:0003244,GARD:0022531,GARD:0021672,GARD:0010127,Rare genetic disease +GARD:0003244,GARD:0022536,GARD:0021471,GARD:0016852,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003244,GARD:0022513,GARD:0021471,GARD:0016851,Rare developmental defect during embryogenesis +GARD:0003244,GARD:0022529,GARD:0021672,GARD:0016851,Rare infertility +GARD:0003244,GARD:0022531,GARD:0021471,GARD:0010127,Rare genetic disease +GARD:0003244,GARD:0022531,GARD:0021672,GARD:0016851,Rare genetic disease +GARD:0003244,GARD:0022531,GARD:0021672,GARD:0016852,Rare genetic disease +GARD:0003244,GARD:0022532,GARD:0021471,GARD:0010127,Rare urogenital disease +GARD:0003244,GARD:0022513,GARD:0021471,GARD:0010127,Rare developmental defect during embryogenesis +GARD:0003244,GARD:0022532,GARD:0021471,GARD:0016851,Rare urogenital disease +GARD:0003244,GARD:0022521,GARD:0021471,GARD:0016852,Rare endocrine disease +GARD:0003247,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0003247,GARD:0022510,GARD:0020744,,Rare skin disease +GARD:0003248,GARD:0022531,GARD:0021508,,Rare genetic disease +GARD:0003248,GARD:0022523,GARD:0021508,,Rare immune disease +GARD:0003248,GARD:0022536,GARD:0021508,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003251,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0003251,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0003252,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003252,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003252,GARD:0022513,GARD:0020881,,Rare developmental defect during embryogenesis +GARD:0003252,GARD:0022531,GARD:0020881,,Rare genetic disease +GARD:0003252,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003259,GARD:0022510,GARD:0021176,GARD:0005484,Rare skin disease +GARD:0003259,GARD:0022535,GARD:0021176,GARD:0005484,Rare neoplastic disease +GARD:0003259,GARD:0022535,GARD:0021176,GARD:0019020,Rare neoplastic disease +GARD:0003259,GARD:0022510,GARD:0021176,GARD:0005485,Rare skin disease +GARD:0003259,GARD:0022510,GARD:0021176,GARD:0019020,Rare skin disease +GARD:0003259,GARD:0022535,GARD:0021176,GARD:0005485,Rare neoplastic disease +GARD:0003262,GARD:0022524,GARD:0020369,GARD:0010288,Rare neurologic disease +GARD:0003262,GARD:0022531,GARD:0020369,GARD:0022267,Rare genetic disease +GARD:0003262,GARD:0022531,GARD:0020369,GARD:0003979,Rare genetic disease +GARD:0003262,GARD:0022531,GARD:0020369,GARD:0010288,Rare genetic disease +GARD:0003262,GARD:0022508,GARD:0021519,GARD:0022267,Rare inborn errors of metabolism +GARD:0003262,GARD:0022531,GARD:0021519,GARD:0010288,Rare genetic disease +GARD:0003262,GARD:0022508,GARD:0021519,GARD:0003979,Rare inborn errors of metabolism +GARD:0003262,GARD:0022508,GARD:0021519,GARD:0010288,Rare inborn errors of metabolism +GARD:0003262,GARD:0022531,GARD:0021519,GARD:0003979,Rare genetic disease +GARD:0003262,GARD:0022524,GARD:0020369,GARD:0022267,Rare neurologic disease +GARD:0003262,GARD:0022531,GARD:0021519,GARD:0022267,Rare genetic disease +GARD:0003262,GARD:0022524,GARD:0020369,GARD:0003979,Rare neurologic disease +GARD:0003263,GARD:0022524,GARD:0007513,,Rare neurologic disease +GARD:0003263,GARD:0022531,GARD:0012679,,Rare genetic disease +GARD:0003263,GARD:0022508,GARD:0012679,,Rare inborn errors of metabolism +GARD:0003263,GARD:0022531,GARD:0007513,,Rare genetic disease +GARD:0003263,GARD:0022508,GARD:0007513,,Rare inborn errors of metabolism +GARD:0003268,GARD:0022531,GARD:0021970,,Rare genetic disease +GARD:0003268,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0003268,GARD:0022510,GARD:0019010,,Rare skin disease +GARD:0003268,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0003277,GARD:0022524,GARD:0012291,GARD:0012588,Rare neurologic disease +GARD:0003277,GARD:0022531,GARD:0012291,GARD:0012588,Rare genetic disease +GARD:0003277,GARD:0022531,GARD:0012291,GARD:0017526,Rare genetic disease +GARD:0003277,GARD:0022513,GARD:0012291,GARD:0017526,Rare developmental defect during embryogenesis +GARD:0003277,GARD:0022513,GARD:0012291,GARD:0012588,Rare developmental defect during embryogenesis +GARD:0003277,GARD:0022524,GARD:0012291,GARD:0017526,Rare neurologic disease +GARD:0003283,GARD:0022509,GARD:0018757,,Rare infectious disease +GARD:0003284,GARD:0022515,GARD:0016547,GARD:0010433,Rare cardiac disease +GARD:0003284,GARD:0022515,GARD:0016547,GARD:0016073,Rare cardiac disease +GARD:0003284,GARD:0022515,GARD:0016547,GARD:0010435,Rare cardiac disease +GARD:0003284,GARD:0022531,GARD:0016547,GARD:0016074,Rare genetic disease +GARD:0003284,GARD:0022531,GARD:0016547,GARD:0003286,Rare genetic disease +GARD:0003284,GARD:0022515,GARD:0016547,GARD:0016074,Rare cardiac disease +GARD:0003284,GARD:0022531,GARD:0016547,GARD:0015595,Rare genetic disease +GARD:0003284,GARD:0022531,GARD:0016547,GARD:0010434,Rare genetic disease +GARD:0003284,GARD:0022515,GARD:0016547,GARD:0003285,Rare cardiac disease +GARD:0003284,GARD:0022515,GARD:0016547,GARD:0015595,Rare cardiac disease +GARD:0003284,GARD:0022515,GARD:0016547,GARD:0010434,Rare cardiac disease +GARD:0003284,GARD:0022531,GARD:0016547,GARD:0015666,Rare genetic disease +GARD:0003284,GARD:0022531,GARD:0016547,GARD:0010432,Rare genetic disease +GARD:0003284,GARD:0022515,GARD:0016547,GARD:0010437,Rare cardiac disease +GARD:0003284,GARD:0022515,GARD:0016547,GARD:0015666,Rare cardiac disease +GARD:0003284,GARD:0022531,GARD:0016547,GARD:0003285,Rare genetic disease +GARD:0003284,GARD:0022531,GARD:0016547,GARD:0016073,Rare genetic disease +GARD:0003284,GARD:0022531,GARD:0016547,GARD:0010433,Rare genetic disease +GARD:0003284,GARD:0022515,GARD:0016547,GARD:0010436,Rare cardiac disease +GARD:0003284,GARD:0022515,GARD:0016547,GARD:0010432,Rare cardiac disease +GARD:0003284,GARD:0022531,GARD:0016547,GARD:0010435,Rare genetic disease +GARD:0003284,GARD:0022515,GARD:0016547,GARD:0003286,Rare cardiac disease +GARD:0003284,GARD:0022531,GARD:0016547,GARD:0010436,Rare genetic disease +GARD:0003284,GARD:0022531,GARD:0016547,GARD:0010437,Rare genetic disease +GARD:0003285,GARD:0022531,GARD:0003284,,Rare genetic disease +GARD:0003285,GARD:0022515,GARD:0003284,,Rare cardiac disease +GARD:0003286,GARD:0022531,GARD:0003284,,Rare genetic disease +GARD:0003286,GARD:0022515,GARD:0003284,,Rare cardiac disease +GARD:0003287,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0003287,GARD:0022531,GARD:0021987,,Rare genetic disease +GARD:0003295,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0003295,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0003295,GARD:0022531,GARD:0019530,,Rare genetic disease +GARD:0003295,GARD:0022520,GARD:0019530,,Rare ophthalmic disorder +GARD:0003295,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0003295,GARD:0022508,GARD:0018948,,Rare inborn errors of metabolism +GARD:0003295,GARD:0022531,GARD:0018948,,Rare genetic disease +GARD:0003295,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003295,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0003295,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0003295,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0003295,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003295,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0003295,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003300,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0003300,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003300,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003300,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0003300,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0003300,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0003300,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0003300,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003303,GARD:0022531,GARD:0020061,,Rare genetic disease +GARD:0003303,GARD:0022516,GARD:0019786,,Rare gastroenterologic disease +GARD:0003307,GARD:0022524,GARD:0019832,GARD:0015264,Rare neurologic disease +GARD:0003307,GARD:0022531,GARD:0022441,GARD:0015264,Rare genetic disease +GARD:0003307,GARD:0022513,GARD:0019832,GARD:0015264,Rare developmental defect during embryogenesis +GARD:0003314,GARD:0022521,GARD:0020219,GARD:0015384,Rare endocrine disease +GARD:0003314,GARD:0022514,GARD:0020219,GARD:0015384,Rare gynecologic or obstetric disease +GARD:0003314,GARD:0022529,GARD:0020219,GARD:0015384,Rare infertility +GARD:0003314,GARD:0022531,GARD:0020219,GARD:0015384,Rare genetic disease +GARD:0003314,GARD:0022531,GARD:0020286,GARD:0015384,Rare genetic disease +GARD:0003314,GARD:0022524,GARD:0020286,GARD:0015384,Rare neurologic disease +GARD:0003318,GARD:0022531,GARD:0022297,GARD:0016296,Rare genetic disease +GARD:0003318,GARD:0022523,GARD:0021510,GARD:0016296,Rare immune disease +GARD:0003318,GARD:0022531,GARD:0022441,GARD:0016296,Rare genetic disease +GARD:0003318,GARD:0022523,GARD:0021510,GARD:0015181,Rare immune disease +GARD:0003318,GARD:0022513,GARD:0022297,GARD:0016296,Rare developmental defect during embryogenesis +GARD:0003318,GARD:0022531,GARD:0022441,GARD:0016047,Rare genetic disease +GARD:0003318,GARD:0022527,GARD:0022297,GARD:0016296,Rare circulatory system disease +GARD:0003318,GARD:0022531,GARD:0022441,GARD:0015181,Rare genetic disease +GARD:0003318,GARD:0022531,GARD:0022297,GARD:0015181,Rare genetic disease +GARD:0003318,GARD:0022531,GARD:0021510,GARD:0016047,Rare genetic disease +GARD:0003318,GARD:0022513,GARD:0022297,GARD:0015181,Rare developmental defect during embryogenesis +GARD:0003318,GARD:0022527,GARD:0022297,GARD:0015181,Rare circulatory system disease +GARD:0003318,GARD:0022531,GARD:0021510,GARD:0015181,Rare genetic disease +GARD:0003318,GARD:0022523,GARD:0021510,GARD:0016047,Rare immune disease +GARD:0003318,GARD:0022524,GARD:0019832,GARD:0015181,Rare neurologic disease +GARD:0003318,GARD:0022510,GARD:0022297,GARD:0016296,Rare skin disease +GARD:0003318,GARD:0022513,GARD:0019832,GARD:0016047,Rare developmental defect during embryogenesis +GARD:0003318,GARD:0022527,GARD:0022297,GARD:0016047,Rare circulatory system disease +GARD:0003318,GARD:0022513,GARD:0019832,GARD:0015181,Rare developmental defect during embryogenesis +GARD:0003318,GARD:0022513,GARD:0022297,GARD:0016047,Rare developmental defect during embryogenesis +GARD:0003318,GARD:0022524,GARD:0019832,GARD:0016296,Rare neurologic disease +GARD:0003318,GARD:0022510,GARD:0022297,GARD:0016047,Rare skin disease +GARD:0003318,GARD:0022531,GARD:0022297,GARD:0016047,Rare genetic disease +GARD:0003318,GARD:0022531,GARD:0021510,GARD:0016296,Rare genetic disease +GARD:0003318,GARD:0022510,GARD:0022297,GARD:0015181,Rare skin disease +GARD:0003318,GARD:0022524,GARD:0019832,GARD:0016047,Rare neurologic disease +GARD:0003318,GARD:0022513,GARD:0019832,GARD:0016296,Rare developmental defect during embryogenesis +GARD:0003319,GARD:0022517,GARD:0020932,,Rare respiratory disease +GARD:0003319,GARD:0022536,GARD:0020932,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003319,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0003321,GARD:0022509,GARD:0018757,,Rare infectious disease +GARD:0003324,GARD:0022510,GARD:0021153,,Rare skin disease +GARD:0003324,GARD:0022513,GARD:0021153,,Rare developmental defect during embryogenesis +GARD:0003324,GARD:0022527,GARD:0021153,,Rare circulatory system disease +GARD:0003324,GARD:0022531,GARD:0021153,,Rare genetic disease +GARD:0003328,GARD:0022510,GARD:0007220,,Rare skin disease +GARD:0003328,GARD:0022527,GARD:0007220,,Rare circulatory system disease +GARD:0003328,GARD:0022531,GARD:0007220,,Rare genetic disease +GARD:0003328,GARD:0022513,GARD:0007220,,Rare developmental defect during embryogenesis +GARD:0003335,GARD:0022508,GARD:0018948,,Rare inborn errors of metabolism +GARD:0003335,GARD:0022531,GARD:0018948,,Rare genetic disease +GARD:0003342,GARD:0022531,GARD:0020303,GARD:0016971,Rare genetic disease +GARD:0003342,GARD:0022531,GARD:0020303,GARD:0002630,Rare genetic disease +GARD:0003342,GARD:0022507,GARD:0022507,GARD:0016971,Rare maxillo-facial surgical disease +GARD:0003342,GARD:0022513,GARD:0019972,GARD:0016599,Rare developmental defect during embryogenesis +GARD:0003342,GARD:0022507,GARD:0022507,GARD:0016599,Rare maxillo-facial surgical disease +GARD:0003342,GARD:0022507,GARD:0022507,GARD:0003343,Rare maxillo-facial surgical disease +GARD:0003342,GARD:0022531,GARD:0020303,GARD:0007649,Rare genetic disease +GARD:0003342,GARD:0022513,GARD:0019972,GARD:0010084,Rare developmental defect during embryogenesis +GARD:0003342,GARD:0022513,GARD:0019972,GARD:0016971,Rare developmental defect during embryogenesis +GARD:0003342,GARD:0022531,GARD:0020303,GARD:0003343,Rare genetic disease +GARD:0003342,GARD:0022507,GARD:0022507,GARD:0007649,Rare maxillo-facial surgical disease +GARD:0003342,GARD:0022513,GARD:0019972,GARD:0007649,Rare developmental defect during embryogenesis +GARD:0003342,GARD:0022513,GARD:0019972,GARD:0003343,Rare developmental defect during embryogenesis +GARD:0003342,GARD:0022513,GARD:0019972,GARD:0002630,Rare developmental defect during embryogenesis +GARD:0003342,GARD:0022531,GARD:0020303,GARD:0016599,Rare genetic disease +GARD:0003342,GARD:0022507,GARD:0022507,GARD:0002630,Rare maxillo-facial surgical disease +GARD:0003342,GARD:0022507,GARD:0022507,GARD:0010084,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022531,GARD:0003342,GARD:0020602,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0020523,GARD:0020602,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0019213,GARD:0019342,Rare genetic disease +GARD:0003343,GARD:0022512,GARD:0019218,GARD:0020601,Rare renal disease +GARD:0003343,GARD:0022531,GARD:0021420,GARD:0020600,Rare genetic disease +GARD:0003343,GARD:0022536,GARD:0019218,GARD:0017160,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022531,GARD:0019998,GARD:0019308,Rare genetic disease +GARD:0003343,GARD:0022512,GARD:0021420,GARD:0019342,Rare renal disease +GARD:0003343,GARD:0022513,GARD:0019998,GARD:0017178,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022535,GARD:0021420,GARD:0017160,Rare neoplastic disease +GARD:0003343,GARD:0022536,GARD:0020523,GARD:0019342,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022513,GARD:0019213,GARD:0020602,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022535,GARD:0021420,GARD:0019342,Rare neoplastic disease +GARD:0003343,GARD:0022536,GARD:0019218,GARD:0019308,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022515,GARD:0020523,GARD:0019342,Rare cardiac disease +GARD:0003343,GARD:0022531,GARD:0019998,GARD:0019342,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0019998,GARD:0020601,Rare genetic disease +GARD:0003343,GARD:0022507,GARD:0003342,GARD:0017160,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022531,GARD:0020259,GARD:0020602,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0021420,GARD:0020601,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0019218,GARD:0019308,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0020523,GARD:0017160,Rare genetic disease +GARD:0003343,GARD:0022512,GARD:0019218,GARD:0020602,Rare renal disease +GARD:0003343,GARD:0022531,GARD:0019998,GARD:0020602,Rare genetic disease +GARD:0003343,GARD:0022513,GARD:0019213,GARD:0020601,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022513,GARD:0019213,GARD:0017178,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022536,GARD:0022060,GARD:0020600,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022507,GARD:0019998,GARD:0017160,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022536,GARD:0020523,GARD:0020601,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022531,GARD:0019213,GARD:0020602,Rare genetic disease +GARD:0003343,GARD:0022512,GARD:0021420,GARD:0017178,Rare renal disease +GARD:0003343,GARD:0022528,GARD:0019998,GARD:0017178,Rare otorhinolaryngologic disease +GARD:0003343,GARD:0022512,GARD:0021420,GARD:0017160,Rare renal disease +GARD:0003343,GARD:0022536,GARD:0022060,GARD:0017178,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022531,GARD:0019218,GARD:0017178,Rare genetic disease +GARD:0003343,GARD:0022512,GARD:0021420,GARD:0020602,Rare renal disease +GARD:0003343,GARD:0022531,GARD:0021420,GARD:0017160,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0019218,GARD:0017160,Rare genetic disease +GARD:0003343,GARD:0022535,GARD:0021420,GARD:0020602,Rare neoplastic disease +GARD:0003343,GARD:0022536,GARD:0019218,GARD:0020600,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022535,GARD:0020259,GARD:0017160,Rare neoplastic disease +GARD:0003343,GARD:0022513,GARD:0003342,GARD:0020601,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022512,GARD:0019218,GARD:0020600,Rare renal disease +GARD:0003343,GARD:0022513,GARD:0019998,GARD:0019308,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022531,GARD:0003342,GARD:0020600,Rare genetic disease +GARD:0003343,GARD:0022535,GARD:0020259,GARD:0019342,Rare neoplastic disease +GARD:0003343,GARD:0022528,GARD:0019998,GARD:0020601,Rare otorhinolaryngologic disease +GARD:0003343,GARD:0022513,GARD:0019218,GARD:0017160,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022531,GARD:0019213,GARD:0020600,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0020259,GARD:0020600,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0020259,GARD:0017178,Rare genetic disease +GARD:0003343,GARD:0022513,GARD:0019998,GARD:0017160,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022531,GARD:0020523,GARD:0019308,Rare genetic disease +GARD:0003343,GARD:0022507,GARD:0003342,GARD:0017178,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022535,GARD:0020259,GARD:0019308,Rare neoplastic disease +GARD:0003343,GARD:0022536,GARD:0022060,GARD:0019308,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022507,GARD:0003342,GARD:0020601,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022512,GARD:0019218,GARD:0019308,Rare renal disease +GARD:0003343,GARD:0022531,GARD:0020523,GARD:0020600,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0019218,GARD:0020600,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0019218,GARD:0020602,Rare genetic disease +GARD:0003343,GARD:0022507,GARD:0019998,GARD:0017178,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022513,GARD:0019998,GARD:0019342,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022513,GARD:0019218,GARD:0020602,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022531,GARD:0003342,GARD:0017178,Rare genetic disease +GARD:0003343,GARD:0022535,GARD:0020259,GARD:0020602,Rare neoplastic disease +GARD:0003343,GARD:0022507,GARD:0003342,GARD:0020602,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022507,GARD:0003342,GARD:0020600,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022528,GARD:0019998,GARD:0020600,Rare otorhinolaryngologic disease +GARD:0003343,GARD:0022528,GARD:0019998,GARD:0017160,Rare otorhinolaryngologic disease +GARD:0003343,GARD:0022536,GARD:0020523,GARD:0019308,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022507,GARD:0019998,GARD:0019308,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022513,GARD:0019218,GARD:0020601,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022513,GARD:0019998,GARD:0020601,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022513,GARD:0019218,GARD:0017178,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022535,GARD:0021420,GARD:0020600,Rare neoplastic disease +GARD:0003343,GARD:0022536,GARD:0019218,GARD:0020601,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022513,GARD:0003342,GARD:0020600,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022513,GARD:0019998,GARD:0020600,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022536,GARD:0022060,GARD:0020601,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022513,GARD:0019213,GARD:0020600,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022513,GARD:0019218,GARD:0019308,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022536,GARD:0019218,GARD:0019342,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022536,GARD:0020523,GARD:0017178,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022531,GARD:0019213,GARD:0019308,Rare genetic disease +GARD:0003343,GARD:0022528,GARD:0019998,GARD:0019342,Rare otorhinolaryngologic disease +GARD:0003343,GARD:0022535,GARD:0021420,GARD:0020601,Rare neoplastic disease +GARD:0003343,GARD:0022531,GARD:0021420,GARD:0017178,Rare genetic disease +GARD:0003343,GARD:0022507,GARD:0003342,GARD:0019308,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022513,GARD:0019213,GARD:0017160,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022535,GARD:0021420,GARD:0019308,Rare neoplastic disease +GARD:0003343,GARD:0022512,GARD:0021420,GARD:0020600,Rare renal disease +GARD:0003343,GARD:0022531,GARD:0003342,GARD:0017160,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0020259,GARD:0019342,Rare genetic disease +GARD:0003343,GARD:0022536,GARD:0019218,GARD:0020602,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022512,GARD:0019218,GARD:0017160,Rare renal disease +GARD:0003343,GARD:0022513,GARD:0003342,GARD:0019308,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022528,GARD:0019998,GARD:0019308,Rare otorhinolaryngologic disease +GARD:0003343,GARD:0022531,GARD:0020523,GARD:0019342,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0019213,GARD:0020601,Rare genetic disease +GARD:0003343,GARD:0022535,GARD:0020259,GARD:0020600,Rare neoplastic disease +GARD:0003343,GARD:0022536,GARD:0022060,GARD:0020602,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022531,GARD:0019998,GARD:0017160,Rare genetic disease +GARD:0003343,GARD:0022512,GARD:0021420,GARD:0020601,Rare renal disease +GARD:0003343,GARD:0022531,GARD:0020259,GARD:0017160,Rare genetic disease +GARD:0003343,GARD:0022515,GARD:0020523,GARD:0020600,Rare cardiac disease +GARD:0003343,GARD:0022531,GARD:0019998,GARD:0017178,Rare genetic disease +GARD:0003343,GARD:0022507,GARD:0003342,GARD:0019342,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022531,GARD:0021420,GARD:0019342,Rare genetic disease +GARD:0003343,GARD:0022536,GARD:0019218,GARD:0017178,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022507,GARD:0019998,GARD:0020600,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022531,GARD:0021420,GARD:0019308,Rare genetic disease +GARD:0003343,GARD:0022513,GARD:0003342,GARD:0020602,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022515,GARD:0020523,GARD:0020602,Rare cardiac disease +GARD:0003343,GARD:0022531,GARD:0020523,GARD:0020601,Rare genetic disease +GARD:0003343,GARD:0022513,GARD:0019218,GARD:0020600,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022515,GARD:0020523,GARD:0017160,Rare cardiac disease +GARD:0003343,GARD:0022531,GARD:0019213,GARD:0017178,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0019218,GARD:0020601,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0003342,GARD:0020601,Rare genetic disease +GARD:0003343,GARD:0022512,GARD:0019218,GARD:0019342,Rare renal disease +GARD:0003343,GARD:0022531,GARD:0021420,GARD:0020602,Rare genetic disease +GARD:0003343,GARD:0022531,GARD:0020259,GARD:0019308,Rare genetic disease +GARD:0003343,GARD:0022515,GARD:0020523,GARD:0019308,Rare cardiac disease +GARD:0003343,GARD:0022531,GARD:0003342,GARD:0019308,Rare genetic disease +GARD:0003343,GARD:0022536,GARD:0020523,GARD:0017160,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022507,GARD:0019998,GARD:0019342,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022531,GARD:0019213,GARD:0017160,Rare genetic disease +GARD:0003343,GARD:0022515,GARD:0020523,GARD:0020601,Rare cardiac disease +GARD:0003343,GARD:0022535,GARD:0020259,GARD:0020601,Rare neoplastic disease +GARD:0003343,GARD:0022512,GARD:0019218,GARD:0017178,Rare renal disease +GARD:0003343,GARD:0022513,GARD:0019218,GARD:0019342,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022513,GARD:0003342,GARD:0019342,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022513,GARD:0003342,GARD:0017178,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022531,GARD:0019218,GARD:0019342,Rare genetic disease +GARD:0003343,GARD:0022512,GARD:0021420,GARD:0019308,Rare renal disease +GARD:0003343,GARD:0022507,GARD:0019998,GARD:0020601,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022513,GARD:0003342,GARD:0017160,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022536,GARD:0020523,GARD:0020600,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022513,GARD:0019213,GARD:0019308,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022513,GARD:0019998,GARD:0020602,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022531,GARD:0003342,GARD:0019342,Rare genetic disease +GARD:0003343,GARD:0022515,GARD:0020523,GARD:0017178,Rare cardiac disease +GARD:0003343,GARD:0022531,GARD:0020523,GARD:0017178,Rare genetic disease +GARD:0003343,GARD:0022536,GARD:0022060,GARD:0019342,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022507,GARD:0019998,GARD:0020602,Rare maxillo-facial surgical disease +GARD:0003343,GARD:0022513,GARD:0019213,GARD:0019342,Rare developmental defect during embryogenesis +GARD:0003343,GARD:0022536,GARD:0022060,GARD:0017160,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022528,GARD:0019998,GARD:0020602,Rare otorhinolaryngologic disease +GARD:0003343,GARD:0022531,GARD:0020259,GARD:0020601,Rare genetic disease +GARD:0003343,GARD:0022536,GARD:0020523,GARD:0020602,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003343,GARD:0022535,GARD:0021420,GARD:0017178,Rare neoplastic disease +GARD:0003343,GARD:0022531,GARD:0019998,GARD:0020600,Rare genetic disease +GARD:0003343,GARD:0022535,GARD:0020259,GARD:0017178,Rare neoplastic disease +GARD:0003347,GARD:0022510,GARD:0019003,,Rare skin disease +GARD:0003347,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003347,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003347,GARD:0022531,GARD:0020269,,Rare genetic disease +GARD:0003348,GARD:0022520,GARD:0010892,,Rare ophthalmic disorder +GARD:0003348,GARD:0022531,GARD:0010892,,Rare genetic disease +GARD:0003348,GARD:0022524,GARD:0010892,,Rare neurologic disease +GARD:0003348,GARD:0022513,GARD:0010892,,Rare developmental defect during embryogenesis +GARD:0003350,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0003350,GARD:0022508,GARD:0021357,,Rare inborn errors of metabolism +GARD:0003350,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0003350,GARD:0022531,GARD:0021357,,Rare genetic disease +GARD:0003361,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0003361,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0003361,GARD:0022524,GARD:0021937,,Rare neurologic disease +GARD:0003361,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0003361,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0003361,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0003361,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0003363,GARD:0022531,GARD:0006964,,Rare genetic disease +GARD:0003363,GARD:0022524,GARD:0006964,,Rare neurologic disease +GARD:0003364,GARD:0022524,GARD:0006964,,Rare neurologic disease +GARD:0003364,GARD:0022531,GARD:0006964,,Rare genetic disease +GARD:0003365,GARD:0022524,GARD:0006964,,Rare neurologic disease +GARD:0003365,GARD:0022531,GARD:0006964,,Rare genetic disease +GARD:0003366,GARD:0022524,GARD:0006964,,Rare neurologic disease +GARD:0003366,GARD:0022531,GARD:0006964,,Rare genetic disease +GARD:0003367,GARD:0022531,GARD:0006964,,Rare genetic disease +GARD:0003367,GARD:0022524,GARD:0006964,,Rare neurologic disease +GARD:0003368,GARD:0022524,GARD:0006964,,Rare neurologic disease +GARD:0003368,GARD:0022531,GARD:0006964,,Rare genetic disease +GARD:0003371,GARD:0022508,GARD:0021321,,Rare inborn errors of metabolism +GARD:0003371,GARD:0022531,GARD:0021321,,Rare genetic disease +GARD:0003373,GARD:0022531,GARD:0020233,,Rare genetic disease +GARD:0003373,GARD:0022531,GARD:0020529,,Rare genetic disease +GARD:0003373,GARD:0022531,GARD:0021240,,Rare genetic disease +GARD:0003373,GARD:0022515,GARD:0020529,,Rare cardiac disease +GARD:0003373,GARD:0022521,GARD:0020233,,Rare endocrine disease +GARD:0003373,GARD:0022536,GARD:0020529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003373,GARD:0022529,GARD:0020233,,Rare infertility +GARD:0003374,GARD:0022513,GARD:0011893,,Rare developmental defect during embryogenesis +GARD:0003374,GARD:0022510,GARD:0011893,,Rare skin disease +GARD:0003374,GARD:0022531,GARD:0011893,,Rare genetic disease +GARD:0003374,GARD:0022520,GARD:0011893,,Rare ophthalmic disorder +GARD:0003374,GARD:0022511,GARD:0011893,,Rare bone disease +GARD:0003374,GARD:0022531,GARD:0021242,,Rare genetic disease +GARD:0003374,GARD:0022521,GARD:0011893,,Rare endocrine disease +GARD:0003378,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0003378,GARD:0022531,GARD:0019867,,Rare genetic disease +GARD:0003378,GARD:0022518,GARD:0019868,,Rare surgical thoracic disease +GARD:0003378,GARD:0022531,GARD:0020311,,Rare genetic disease +GARD:0003378,GARD:0022513,GARD:0019868,,Rare developmental defect during embryogenesis +GARD:0003382,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0003382,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0003382,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003382,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003382,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0003382,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0003382,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0003382,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0003388,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003388,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003388,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003390,GARD:0022531,GARD:0021987,GARD:0015585,Rare genetic disease +GARD:0003390,GARD:0022510,GARD:0018995,GARD:0015585,Rare skin disease +GARD:0003390,GARD:0022531,GARD:0021987,GARD:0015078,Rare genetic disease +GARD:0003390,GARD:0022510,GARD:0018995,GARD:0015078,Rare skin disease +GARD:0003395,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003395,GARD:0022531,GARD:0019500,,Rare genetic disease +GARD:0003395,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003395,GARD:0022520,GARD:0019500,,Rare ophthalmic disorder +GARD:0003395,GARD:0022513,GARD:0019500,,Rare developmental defect during embryogenesis +GARD:0003396,GARD:0022531,GARD:0020294,,Rare genetic disease +GARD:0003396,GARD:0022513,GARD:0019197,,Rare developmental defect during embryogenesis +GARD:0003396,GARD:0022531,GARD:0019197,,Rare genetic disease +GARD:0003396,GARD:0022511,GARD:0019197,,Rare bone disease +GARD:0003396,GARD:0022513,GARD:0019390,,Rare developmental defect during embryogenesis +GARD:0003399,GARD:0022513,GARD:0019215,,Rare developmental defect during embryogenesis +GARD:0003399,GARD:0022511,GARD:0019215,,Rare bone disease +GARD:0003399,GARD:0022531,GARD:0019215,,Rare genetic disease +GARD:0003401,GARD:0022531,GARD:0019860,,Rare genetic disease +GARD:0003401,GARD:0022513,GARD:0019860,,Rare developmental defect during embryogenesis +GARD:0003401,GARD:0022536,GARD:0019860,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003401,GARD:0022534,GARD:0019860,,Rare abdominal surgical disease +GARD:0003406,GARD:0022531,GARD:0020219,,Rare genetic disease +GARD:0003406,GARD:0022529,GARD:0020219,,Rare infertility +GARD:0003406,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0003406,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003406,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003406,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003406,GARD:0022514,GARD:0020219,,Rare gynecologic or obstetric disease +GARD:0003406,GARD:0022521,GARD:0020219,,Rare endocrine disease +GARD:0003406,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0003409,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003409,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003409,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003413,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0003413,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003413,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003413,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003413,GARD:0022505,GARD:0020702,,Rare teratologic disease +GARD:0003413,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0003413,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0003413,GARD:0022531,GARD:0021126,,Rare genetic disease +GARD:0003413,GARD:0022513,GARD:0020702,,Rare developmental defect during embryogenesis +GARD:0003413,GARD:0022508,GARD:0021126,,Rare inborn errors of metabolism +GARD:0003418,GARD:0022531,GARD:0003697,,Rare genetic disease +GARD:0003418,GARD:0022521,GARD:0003697,,Rare endocrine disease +GARD:0003424,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0003424,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003424,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0003424,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003424,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003426,GARD:0022513,GARD:0020113,,Rare developmental defect during embryogenesis +GARD:0003426,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003426,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003426,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003426,GARD:0022511,GARD:0020113,,Rare bone disease +GARD:0003426,GARD:0022531,GARD:0020113,,Rare genetic disease +GARD:0003427,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003427,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003427,GARD:0022531,GARD:0019993,,Rare genetic disease +GARD:0003427,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0003430,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003430,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0003430,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0003430,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0003430,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003430,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0003432,GARD:0022514,GARD:0020187,,Rare gynecologic or obstetric disease +GARD:0003432,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0003432,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0003432,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0003432,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0003432,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0003432,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0003436,GARD:0022513,GARD:0021188,GARD:0015957,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0021188,GARD:0008743,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022534,GARD:0019862,GARD:0015727,Rare abdominal surgical disease +GARD:0003436,GARD:0022513,GARD:0019908,GARD:0008743,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0019862,GARD:0015773,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019987,GARD:0008743,Rare genetic disease +GARD:0003436,GARD:0022512,GARD:0019228,GARD:0015727,Rare renal disease +GARD:0003436,GARD:0022513,GARD:0019536,GARD:0015458,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0021188,GARD:0015509,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0021925,GARD:0015548,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022511,GARD:0021188,GARD:0015957,Rare bone disease +GARD:0003436,GARD:0022531,GARD:0019862,GARD:0015520,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021947,GARD:0015458,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019218,GARD:0015773,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019228,GARD:0015520,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019862,GARD:0015548,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019987,GARD:0015548,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021188,GARD:0015520,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0021188,GARD:0015773,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022524,GARD:0021001,GARD:0015520,Rare neurologic disease +GARD:0003436,GARD:0022524,GARD:0021001,GARD:0015509,Rare neurologic disease +GARD:0003436,GARD:0022536,GARD:0019218,GARD:0015509,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003436,GARD:0022531,GARD:0019987,GARD:0008744,Rare genetic disease +GARD:0003436,GARD:0022536,GARD:0019218,GARD:0015520,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003436,GARD:0022513,GARD:0019218,GARD:0016236,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0021188,GARD:0015458,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019536,GARD:0015548,Rare genetic disease +GARD:0003436,GARD:0022511,GARD:0021188,GARD:0015458,Rare bone disease +GARD:0003436,GARD:0022513,GARD:0021001,GARD:0015509,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022507,GARD:0019908,GARD:0015957,Rare maxillo-facial surgical disease +GARD:0003436,GARD:0022512,GARD:0019228,GARD:0015773,Rare renal disease +GARD:0003436,GARD:0022531,GARD:0019228,GARD:0008743,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021947,GARD:0016236,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0021001,GARD:0015773,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0019536,GARD:0008743,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019228,GARD:0015957,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019228,GARD:0015773,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019536,GARD:0008744,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019218,GARD:0015458,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022534,GARD:0019862,GARD:0008743,Rare abdominal surgical disease +GARD:0003436,GARD:0022513,GARD:0019862,GARD:0015509,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0019862,GARD:0015957,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022524,GARD:0021001,GARD:0008744,Rare neurologic disease +GARD:0003436,GARD:0022512,GARD:0019218,GARD:0015520,Rare renal disease +GARD:0003436,GARD:0022520,GARD:0019536,GARD:0008743,Rare ophthalmic disorder +GARD:0003436,GARD:0022513,GARD:0019218,GARD:0015548,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019908,GARD:0015727,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019536,GARD:0016236,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022520,GARD:0019527,GARD:0015957,Rare ophthalmic disorder +GARD:0003436,GARD:0022520,GARD:0019527,GARD:0015520,Rare ophthalmic disorder +GARD:0003436,GARD:0022507,GARD:0019908,GARD:0008743,Rare maxillo-facial surgical disease +GARD:0003436,GARD:0022512,GARD:0019218,GARD:0015957,Rare renal disease +GARD:0003436,GARD:0022531,GARD:0019987,GARD:0016236,Rare genetic disease +GARD:0003436,GARD:0022536,GARD:0019218,GARD:0015458,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003436,GARD:0022513,GARD:0021188,GARD:0008744,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022520,GARD:0019527,GARD:0015458,Rare ophthalmic disorder +GARD:0003436,GARD:0022531,GARD:0019862,GARD:0008743,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019536,GARD:0015509,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019986,GARD:0015520,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021947,GARD:0015727,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019536,GARD:0015957,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0021188,GARD:0015458,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019536,GARD:0015773,Rare genetic disease +GARD:0003436,GARD:0022507,GARD:0019908,GARD:0015509,Rare maxillo-facial surgical disease +GARD:0003436,GARD:0022531,GARD:0019228,GARD:0015727,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019908,GARD:0016236,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0022170,GARD:0015727,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019862,GARD:0008744,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022512,GARD:0019228,GARD:0016236,Rare renal disease +GARD:0003436,GARD:0022513,GARD:0021001,GARD:0015548,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0021188,GARD:0008743,Rare genetic disease +GARD:0003436,GARD:0022534,GARD:0019862,GARD:0015773,Rare abdominal surgical disease +GARD:0003436,GARD:0022507,GARD:0019908,GARD:0015458,Rare maxillo-facial surgical disease +GARD:0003436,GARD:0022531,GARD:0019987,GARD:0015957,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0021925,GARD:0015957,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022534,GARD:0019862,GARD:0015957,Rare abdominal surgical disease +GARD:0003436,GARD:0022513,GARD:0021925,GARD:0015773,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0019218,GARD:0015520,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0019908,GARD:0015458,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0021188,GARD:0016236,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021188,GARD:0015548,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019862,GARD:0015458,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022524,GARD:0021001,GARD:0016236,Rare neurologic disease +GARD:0003436,GARD:0022531,GARD:0022170,GARD:0008744,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0021925,GARD:0015458,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0021188,GARD:0015773,Rare genetic disease +GARD:0003436,GARD:0022512,GARD:0019218,GARD:0015727,Rare renal disease +GARD:0003436,GARD:0022513,GARD:0019908,GARD:0015509,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0022170,GARD:0015548,Rare genetic disease +GARD:0003436,GARD:0022512,GARD:0019218,GARD:0015773,Rare renal disease +GARD:0003436,GARD:0022528,GARD:0019908,GARD:0015957,Rare otorhinolaryngologic disease +GARD:0003436,GARD:0022531,GARD:0019986,GARD:0015509,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021947,GARD:0015773,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019228,GARD:0008744,Rare genetic disease +GARD:0003436,GARD:0022536,GARD:0019218,GARD:0015773,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003436,GARD:0022531,GARD:0019986,GARD:0015548,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019862,GARD:0016236,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0021947,GARD:0015509,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0021001,GARD:0015727,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022520,GARD:0019527,GARD:0016236,Rare ophthalmic disorder +GARD:0003436,GARD:0022531,GARD:0019862,GARD:0015773,Rare genetic disease +GARD:0003436,GARD:0022511,GARD:0021188,GARD:0016236,Rare bone disease +GARD:0003436,GARD:0022512,GARD:0019218,GARD:0015509,Rare renal disease +GARD:0003436,GARD:0022512,GARD:0019228,GARD:0015520,Rare renal disease +GARD:0003436,GARD:0022520,GARD:0019536,GARD:0016236,Rare ophthalmic disorder +GARD:0003436,GARD:0022528,GARD:0019908,GARD:0016236,Rare otorhinolaryngologic disease +GARD:0003436,GARD:0022528,GARD:0019908,GARD:0008743,Rare otorhinolaryngologic disease +GARD:0003436,GARD:0022512,GARD:0019218,GARD:0015548,Rare renal disease +GARD:0003436,GARD:0022531,GARD:0019536,GARD:0015727,Rare genetic disease +GARD:0003436,GARD:0022507,GARD:0019908,GARD:0015773,Rare maxillo-facial surgical disease +GARD:0003436,GARD:0022531,GARD:0019986,GARD:0008743,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019228,GARD:0016236,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019536,GARD:0008744,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0021925,GARD:0016236,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022524,GARD:0021001,GARD:0015458,Rare neurologic disease +GARD:0003436,GARD:0022531,GARD:0019536,GARD:0008743,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021007,GARD:0015727,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019228,GARD:0015548,Rare genetic disease +GARD:0003436,GARD:0022512,GARD:0019218,GARD:0015458,Rare renal disease +GARD:0003436,GARD:0022531,GARD:0019986,GARD:0015727,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021188,GARD:0008744,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019536,GARD:0015773,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0019862,GARD:0008743,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019987,GARD:0015727,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0022170,GARD:0015957,Rare genetic disease +GARD:0003436,GARD:0022528,GARD:0019908,GARD:0015509,Rare otorhinolaryngologic disease +GARD:0003436,GARD:0022512,GARD:0019228,GARD:0008743,Rare renal disease +GARD:0003436,GARD:0022520,GARD:0019527,GARD:0015773,Rare ophthalmic disorder +GARD:0003436,GARD:0022531,GARD:0022170,GARD:0015520,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0021925,GARD:0015520,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022507,GARD:0019908,GARD:0015520,Rare maxillo-facial surgical disease +GARD:0003436,GARD:0022531,GARD:0019218,GARD:0008744,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019908,GARD:0015548,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019862,GARD:0015509,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021007,GARD:0015548,Rare genetic disease +GARD:0003436,GARD:0022512,GARD:0019218,GARD:0008743,Rare renal disease +GARD:0003436,GARD:0022512,GARD:0019228,GARD:0008744,Rare renal disease +GARD:0003436,GARD:0022513,GARD:0019536,GARD:0015548,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019218,GARD:0015727,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019218,GARD:0015548,Rare genetic disease +GARD:0003436,GARD:0022520,GARD:0019536,GARD:0015773,Rare ophthalmic disorder +GARD:0003436,GARD:0022531,GARD:0021007,GARD:0015957,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019908,GARD:0015520,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019987,GARD:0015773,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019862,GARD:0015727,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021007,GARD:0008744,Rare genetic disease +GARD:0003436,GARD:0022520,GARD:0019536,GARD:0015957,Rare ophthalmic disorder +GARD:0003436,GARD:0022531,GARD:0019986,GARD:0015773,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021947,GARD:0015957,Rare genetic disease +GARD:0003436,GARD:0022528,GARD:0019908,GARD:0008744,Rare otorhinolaryngologic disease +GARD:0003436,GARD:0022531,GARD:0021947,GARD:0015520,Rare genetic disease +GARD:0003436,GARD:0022512,GARD:0019218,GARD:0016236,Rare renal disease +GARD:0003436,GARD:0022520,GARD:0019536,GARD:0008744,Rare ophthalmic disorder +GARD:0003436,GARD:0022507,GARD:0019908,GARD:0008744,Rare maxillo-facial surgical disease +GARD:0003436,GARD:0022511,GARD:0021188,GARD:0015520,Rare bone disease +GARD:0003436,GARD:0022531,GARD:0019908,GARD:0015773,Rare genetic disease +GARD:0003436,GARD:0022524,GARD:0021001,GARD:0008743,Rare neurologic disease +GARD:0003436,GARD:0022531,GARD:0019908,GARD:0008744,Rare genetic disease +GARD:0003436,GARD:0022528,GARD:0019908,GARD:0015773,Rare otorhinolaryngologic disease +GARD:0003436,GARD:0022528,GARD:0019908,GARD:0015727,Rare otorhinolaryngologic disease +GARD:0003436,GARD:0022536,GARD:0019218,GARD:0008743,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003436,GARD:0022524,GARD:0021001,GARD:0015957,Rare neurologic disease +GARD:0003436,GARD:0022512,GARD:0019228,GARD:0015957,Rare renal disease +GARD:0003436,GARD:0022531,GARD:0021188,GARD:0015957,Rare genetic disease +GARD:0003436,GARD:0022536,GARD:0019218,GARD:0015548,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003436,GARD:0022520,GARD:0019527,GARD:0015727,Rare ophthalmic disorder +GARD:0003436,GARD:0022520,GARD:0019536,GARD:0015520,Rare ophthalmic disorder +GARD:0003436,GARD:0022513,GARD:0021925,GARD:0015509,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022524,GARD:0021001,GARD:0015727,Rare neurologic disease +GARD:0003436,GARD:0022531,GARD:0019218,GARD:0015520,Rare genetic disease +GARD:0003436,GARD:0022534,GARD:0019862,GARD:0015520,Rare abdominal surgical disease +GARD:0003436,GARD:0022513,GARD:0019908,GARD:0015727,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0021925,GARD:0008744,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019986,GARD:0015458,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0021001,GARD:0008743,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022520,GARD:0019527,GARD:0008744,Rare ophthalmic disorder +GARD:0003436,GARD:0022513,GARD:0021188,GARD:0015520,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022512,GARD:0019228,GARD:0015458,Rare renal disease +GARD:0003436,GARD:0022520,GARD:0019527,GARD:0015548,Rare ophthalmic disorder +GARD:0003436,GARD:0022513,GARD:0021001,GARD:0015458,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0021001,GARD:0016236,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022520,GARD:0019536,GARD:0015458,Rare ophthalmic disorder +GARD:0003436,GARD:0022531,GARD:0019536,GARD:0015520,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019862,GARD:0015727,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0022170,GARD:0015773,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0021001,GARD:0008744,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022528,GARD:0019908,GARD:0015458,Rare otorhinolaryngologic disease +GARD:0003436,GARD:0022531,GARD:0019987,GARD:0015509,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021007,GARD:0015773,Rare genetic disease +GARD:0003436,GARD:0022534,GARD:0019862,GARD:0015548,Rare abdominal surgical disease +GARD:0003436,GARD:0022513,GARD:0019908,GARD:0008744,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022520,GARD:0019536,GARD:0015548,Rare ophthalmic disorder +GARD:0003436,GARD:0022531,GARD:0019218,GARD:0015957,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019908,GARD:0015458,Rare genetic disease +GARD:0003436,GARD:0022536,GARD:0019218,GARD:0008744,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003436,GARD:0022531,GARD:0019218,GARD:0016236,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019986,GARD:0016236,Rare genetic disease +GARD:0003436,GARD:0022528,GARD:0019908,GARD:0015548,Rare otorhinolaryngologic disease +GARD:0003436,GARD:0022513,GARD:0021188,GARD:0015548,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022534,GARD:0019862,GARD:0016236,Rare abdominal surgical disease +GARD:0003436,GARD:0022531,GARD:0021007,GARD:0015509,Rare genetic disease +GARD:0003436,GARD:0022511,GARD:0021188,GARD:0015773,Rare bone disease +GARD:0003436,GARD:0022511,GARD:0021188,GARD:0008744,Rare bone disease +GARD:0003436,GARD:0022531,GARD:0021947,GARD:0008744,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0021925,GARD:0008743,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019536,GARD:0015957,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019862,GARD:0008744,Rare genetic disease +GARD:0003436,GARD:0022512,GARD:0019218,GARD:0008744,Rare renal disease +GARD:0003436,GARD:0022531,GARD:0019218,GARD:0015773,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019218,GARD:0015727,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019228,GARD:0015458,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019218,GARD:0015957,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0019536,GARD:0015520,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019986,GARD:0015957,Rare genetic disease +GARD:0003436,GARD:0022534,GARD:0019862,GARD:0008744,Rare abdominal surgical disease +GARD:0003436,GARD:0022531,GARD:0019228,GARD:0015509,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019986,GARD:0008744,Rare genetic disease +GARD:0003436,GARD:0022520,GARD:0019527,GARD:0015509,Rare ophthalmic disorder +GARD:0003436,GARD:0022511,GARD:0021188,GARD:0015509,Rare bone disease +GARD:0003436,GARD:0022513,GARD:0019908,GARD:0016236,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019536,GARD:0015509,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019536,GARD:0016236,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019862,GARD:0015548,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0022170,GARD:0016236,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019908,GARD:0008743,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021947,GARD:0008743,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0022170,GARD:0008743,Rare genetic disease +GARD:0003436,GARD:0022507,GARD:0019908,GARD:0015548,Rare maxillo-facial surgical disease +GARD:0003436,GARD:0022513,GARD:0019218,GARD:0008743,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0019218,GARD:0008744,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019908,GARD:0015957,Rare genetic disease +GARD:0003436,GARD:0022524,GARD:0021001,GARD:0015773,Rare neurologic disease +GARD:0003436,GARD:0022531,GARD:0019218,GARD:0015509,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0022170,GARD:0015458,Rare genetic disease +GARD:0003436,GARD:0022511,GARD:0021188,GARD:0015548,Rare bone disease +GARD:0003436,GARD:0022513,GARD:0021001,GARD:0015520,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022520,GARD:0019536,GARD:0015509,Rare ophthalmic disorder +GARD:0003436,GARD:0022512,GARD:0019228,GARD:0015509,Rare renal disease +GARD:0003436,GARD:0022507,GARD:0019908,GARD:0016236,Rare maxillo-facial surgical disease +GARD:0003436,GARD:0022513,GARD:0021188,GARD:0015727,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0021001,GARD:0015957,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019536,GARD:0015458,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019908,GARD:0015957,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019218,GARD:0015458,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019908,GARD:0015520,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0021188,GARD:0016236,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022513,GARD:0021925,GARD:0015727,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0021007,GARD:0016236,Rare genetic disease +GARD:0003436,GARD:0022534,GARD:0019862,GARD:0015458,Rare abdominal surgical disease +GARD:0003436,GARD:0022531,GARD:0019862,GARD:0016236,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0019987,GARD:0015458,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019862,GARD:0015520,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022524,GARD:0021001,GARD:0015548,Rare neurologic disease +GARD:0003436,GARD:0022531,GARD:0021188,GARD:0015727,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021947,GARD:0015548,Rare genetic disease +GARD:0003436,GARD:0022511,GARD:0021188,GARD:0008743,Rare bone disease +GARD:0003436,GARD:0022512,GARD:0019228,GARD:0015548,Rare renal disease +GARD:0003436,GARD:0022520,GARD:0019527,GARD:0008743,Rare ophthalmic disorder +GARD:0003436,GARD:0022520,GARD:0019536,GARD:0015727,Rare ophthalmic disorder +GARD:0003436,GARD:0022531,GARD:0019987,GARD:0015520,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019908,GARD:0015548,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019862,GARD:0015957,Rare genetic disease +GARD:0003436,GARD:0022536,GARD:0019218,GARD:0015957,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003436,GARD:0022531,GARD:0021007,GARD:0015520,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021007,GARD:0015458,Rare genetic disease +GARD:0003436,GARD:0022536,GARD:0019218,GARD:0016236,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003436,GARD:0022507,GARD:0019908,GARD:0015727,Rare maxillo-facial surgical disease +GARD:0003436,GARD:0022531,GARD:0019862,GARD:0015458,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019908,GARD:0015773,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0019908,GARD:0015509,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021188,GARD:0015509,Rare genetic disease +GARD:0003436,GARD:0022513,GARD:0019218,GARD:0015509,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022531,GARD:0022170,GARD:0015509,Rare genetic disease +GARD:0003436,GARD:0022531,GARD:0021007,GARD:0008743,Rare genetic disease +GARD:0003436,GARD:0022528,GARD:0019908,GARD:0015520,Rare otorhinolaryngologic disease +GARD:0003436,GARD:0022513,GARD:0019536,GARD:0015727,Rare developmental defect during embryogenesis +GARD:0003436,GARD:0022536,GARD:0019218,GARD:0015727,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003436,GARD:0022534,GARD:0019862,GARD:0015509,Rare abdominal surgical disease +GARD:0003436,GARD:0022511,GARD:0021188,GARD:0015727,Rare bone disease +GARD:0003436,GARD:0022531,GARD:0019218,GARD:0008743,Rare genetic disease +GARD:0003438,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0003438,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0003438,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0003438,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0003439,GARD:0022513,GARD:0002392,,Rare developmental defect during embryogenesis +GARD:0003439,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0003439,GARD:0022511,GARD:0002392,,Rare bone disease +GARD:0003439,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0003439,GARD:0022531,GARD:0002392,,Rare genetic disease +GARD:0003439,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0003439,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0003440,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003440,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003442,GARD:0022531,GARD:0019846,GARD:0016447,Rare genetic disease +GARD:0003442,GARD:0022516,GARD:0019846,GARD:0016447,Rare gastroenterologic disease +GARD:0003442,GARD:0022512,GARD:0019218,GARD:0015195,Rare renal disease +GARD:0003442,GARD:0022513,GARD:0019218,GARD:0016447,Rare developmental defect during embryogenesis +GARD:0003442,GARD:0022512,GARD:0019218,GARD:0016447,Rare renal disease +GARD:0003442,GARD:0022531,GARD:0019218,GARD:0016447,Rare genetic disease +GARD:0003442,GARD:0022531,GARD:0019218,GARD:0015195,Rare genetic disease +GARD:0003442,GARD:0022536,GARD:0019846,GARD:0016447,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003442,GARD:0022536,GARD:0019218,GARD:0016447,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003442,GARD:0022536,GARD:0019218,GARD:0015195,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003442,GARD:0022513,GARD:0019218,GARD:0015195,Rare developmental defect during embryogenesis +GARD:0003442,GARD:0022516,GARD:0019846,GARD:0015195,Rare gastroenterologic disease +GARD:0003442,GARD:0022531,GARD:0019846,GARD:0015195,Rare genetic disease +GARD:0003442,GARD:0022536,GARD:0019846,GARD:0015195,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003443,GARD:0022536,GARD:0019846,GARD:0016446,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003443,GARD:0022516,GARD:0019846,GARD:0016446,Rare gastroenterologic disease +GARD:0003443,GARD:0022531,GARD:0019846,GARD:0016446,Rare genetic disease +GARD:0003445,GARD:0022524,GARD:0006895,GARD:0015729,Rare neurologic disease +GARD:0003445,GARD:0022524,GARD:0006895,GARD:0015728,Rare neurologic disease +GARD:0003445,GARD:0022531,GARD:0006895,GARD:0015728,Rare genetic disease +GARD:0003445,GARD:0022531,GARD:0006895,GARD:0015729,Rare genetic disease +GARD:0003448,GARD:0022520,GARD:0022090,,Rare ophthalmic disorder +GARD:0003448,GARD:0022531,GARD:0022175,,Rare genetic disease +GARD:0003448,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003448,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003448,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003449,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0003449,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003449,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0003449,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003449,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003451,GARD:0022512,GARD:0021254,,Rare renal disease +GARD:0003451,GARD:0022536,GARD:0021254,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003451,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0003451,GARD:0022520,GARD:0022107,,Rare ophthalmic disorder +GARD:0003451,GARD:0022531,GARD:0021254,,Rare genetic disease +GARD:0003451,GARD:0022531,GARD:0022107,,Rare genetic disease +GARD:0003451,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0003451,GARD:0022508,GARD:0021254,,Rare inborn errors of metabolism +GARD:0003460,GARD:0022510,GARD:0019014,GARD:0018472,Rare skin disease +GARD:0003460,GARD:0022531,GARD:0020276,GARD:0018582,Rare genetic disease +GARD:0003460,GARD:0022531,GARD:0020276,GARD:0018581,Rare genetic disease +GARD:0003460,GARD:0022535,GARD:0019014,GARD:0018576,Rare neoplastic disease +GARD:0003460,GARD:0022535,GARD:0019014,GARD:0018582,Rare neoplastic disease +GARD:0003460,GARD:0022535,GARD:0019014,GARD:0018580,Rare neoplastic disease +GARD:0003460,GARD:0022535,GARD:0019014,GARD:0018472,Rare neoplastic disease +GARD:0003460,GARD:0022531,GARD:0020276,GARD:0018575,Rare genetic disease +GARD:0003460,GARD:0022510,GARD:0019014,GARD:0018580,Rare skin disease +GARD:0003460,GARD:0022510,GARD:0019014,GARD:0018575,Rare skin disease +GARD:0003460,GARD:0022535,GARD:0019014,GARD:0018579,Rare neoplastic disease +GARD:0003460,GARD:0022510,GARD:0019014,GARD:0018582,Rare skin disease +GARD:0003460,GARD:0022510,GARD:0019014,GARD:0018577,Rare skin disease +GARD:0003460,GARD:0022510,GARD:0019014,GARD:0018576,Rare skin disease +GARD:0003460,GARD:0022510,GARD:0019014,GARD:0018581,Rare skin disease +GARD:0003460,GARD:0022535,GARD:0019014,GARD:0018578,Rare neoplastic disease +GARD:0003460,GARD:0022535,GARD:0019014,GARD:0018581,Rare neoplastic disease +GARD:0003460,GARD:0022535,GARD:0019014,GARD:0018577,Rare neoplastic disease +GARD:0003460,GARD:0022531,GARD:0020276,GARD:0018577,Rare genetic disease +GARD:0003460,GARD:0022510,GARD:0019014,GARD:0018578,Rare skin disease +GARD:0003460,GARD:0022535,GARD:0019014,GARD:0018575,Rare neoplastic disease +GARD:0003460,GARD:0022531,GARD:0020276,GARD:0018579,Rare genetic disease +GARD:0003460,GARD:0022510,GARD:0019014,GARD:0018579,Rare skin disease +GARD:0003460,GARD:0022531,GARD:0020276,GARD:0018472,Rare genetic disease +GARD:0003460,GARD:0022531,GARD:0020276,GARD:0018578,Rare genetic disease +GARD:0003460,GARD:0022531,GARD:0020276,GARD:0018576,Rare genetic disease +GARD:0003460,GARD:0022531,GARD:0020276,GARD:0018580,Rare genetic disease +GARD:0003462,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0003462,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0003462,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0003475,GARD:0022524,GARD:0020958,GARD:0020963,Rare neurologic disease +GARD:0003475,GARD:0022531,GARD:0020958,GARD:0020961,Rare genetic disease +GARD:0003475,GARD:0022513,GARD:0020958,GARD:0020960,Rare developmental defect during embryogenesis +GARD:0003475,GARD:0022524,GARD:0020958,GARD:0020961,Rare neurologic disease +GARD:0003475,GARD:0022513,GARD:0020958,GARD:0020959,Rare developmental defect during embryogenesis +GARD:0003475,GARD:0022513,GARD:0020958,GARD:0020963,Rare developmental defect during embryogenesis +GARD:0003475,GARD:0022524,GARD:0020958,GARD:0020962,Rare neurologic disease +GARD:0003475,GARD:0022531,GARD:0020958,GARD:0020959,Rare genetic disease +GARD:0003475,GARD:0022524,GARD:0020958,GARD:0020964,Rare neurologic disease +GARD:0003475,GARD:0022524,GARD:0020958,GARD:0020960,Rare neurologic disease +GARD:0003475,GARD:0022513,GARD:0020958,GARD:0020964,Rare developmental defect during embryogenesis +GARD:0003475,GARD:0022513,GARD:0020958,GARD:0020961,Rare developmental defect during embryogenesis +GARD:0003475,GARD:0022531,GARD:0020958,GARD:0020960,Rare genetic disease +GARD:0003475,GARD:0022531,GARD:0020958,GARD:0020964,Rare genetic disease +GARD:0003475,GARD:0022531,GARD:0020958,GARD:0020962,Rare genetic disease +GARD:0003475,GARD:0022513,GARD:0020958,GARD:0020962,Rare developmental defect during embryogenesis +GARD:0003475,GARD:0022531,GARD:0020958,GARD:0020963,Rare genetic disease +GARD:0003475,GARD:0022524,GARD:0020958,GARD:0020959,Rare neurologic disease +GARD:0003480,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003480,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0003480,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0003480,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0003480,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003480,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003482,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003482,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003482,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0003482,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0003482,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003485,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003485,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003485,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003491,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003491,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003491,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003505,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003505,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003505,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003506,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003506,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003514,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003514,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003514,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003519,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003519,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003519,GARD:0022511,GARD:0019192,,Rare bone disease +GARD:0003519,GARD:0022531,GARD:0019192,,Rare genetic disease +GARD:0003519,GARD:0022513,GARD:0019192,,Rare developmental defect during embryogenesis +GARD:0003519,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003520,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003520,GARD:0022531,GARD:0019193,,Rare genetic disease +GARD:0003520,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003520,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003520,GARD:0022513,GARD:0019193,,Rare developmental defect during embryogenesis +GARD:0003520,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003520,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0003520,GARD:0022511,GARD:0019193,,Rare bone disease +GARD:0003520,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0003520,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0003521,GARD:0022536,GARD:0005864,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003521,GARD:0022524,GARD:0005864,,Rare neurologic disease +GARD:0003521,GARD:0022531,GARD:0005864,,Rare genetic disease +GARD:0003521,GARD:0022513,GARD:0005864,,Rare developmental defect during embryogenesis +GARD:0003521,GARD:0022522,GARD:0005864,,Rare hematologic disease +GARD:0003521,GARD:0022514,GARD:0005864,,Rare gynecologic or obstetric disease +GARD:0003521,GARD:0022532,GARD:0005864,,Rare urogenital disease +GARD:0003521,GARD:0022521,GARD:0005864,,Rare endocrine disease +GARD:0003523,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003523,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0003523,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0003523,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0003523,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003523,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003524,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003524,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003524,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0003524,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0003524,GARD:0022520,GARD:0019521,,Rare ophthalmic disorder +GARD:0003524,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003524,GARD:0022531,GARD:0019521,,Rare genetic disease +GARD:0003530,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003530,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003530,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003531,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003531,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0003531,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0003531,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003531,GARD:0022508,GARD:0018950,,Rare inborn errors of metabolism +GARD:0003531,GARD:0022531,GARD:0018950,,Rare genetic disease +GARD:0003537,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003537,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003537,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003552,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0003552,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0003552,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0003552,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0003552,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0003552,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003552,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0003552,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003552,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0003553,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0003553,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0003553,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0003554,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0003554,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0003554,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0003555,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0003555,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0003555,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0003559,GARD:0022511,GARD:0019100,,Rare bone disease +GARD:0003559,GARD:0022513,GARD:0019100,,Rare developmental defect during embryogenesis +GARD:0003559,GARD:0022531,GARD:0019100,,Rare genetic disease +GARD:0003560,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0003560,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0003560,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0003562,GARD:0022511,GARD:0019192,GARD:0015610,Rare bone disease +GARD:0003562,GARD:0022513,GARD:0019192,GARD:0015610,Rare developmental defect during embryogenesis +GARD:0003562,GARD:0022531,GARD:0019192,GARD:0015610,Rare genetic disease +GARD:0003563,GARD:0022511,GARD:0019192,,Rare bone disease +GARD:0003563,GARD:0022531,GARD:0019192,,Rare genetic disease +GARD:0003563,GARD:0022513,GARD:0019192,,Rare developmental defect during embryogenesis +GARD:0003566,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0003566,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0003566,GARD:0022511,GARD:0019192,,Rare bone disease +GARD:0003566,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003566,GARD:0022531,GARD:0019192,,Rare genetic disease +GARD:0003566,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003566,GARD:0022513,GARD:0019192,,Rare developmental defect during embryogenesis +GARD:0003566,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003566,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0003568,GARD:0022531,GARD:0019192,,Rare genetic disease +GARD:0003568,GARD:0022513,GARD:0019192,,Rare developmental defect during embryogenesis +GARD:0003568,GARD:0022511,GARD:0019192,,Rare bone disease +GARD:0003571,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0003571,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0003571,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0003571,GARD:0022531,GARD:0021577,,Rare genetic disease +GARD:0003573,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0003573,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0003573,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0003573,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0003573,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0003573,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0003575,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0003575,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0003575,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0003575,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0003575,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0003575,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0003576,GARD:0022522,GARD:0016537,,Rare hematologic disease +GARD:0003576,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003576,GARD:0022531,GARD:0016537,,Rare genetic disease +GARD:0003576,GARD:0022524,GARD:0016537,,Rare neurologic disease +GARD:0003576,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003576,GARD:0022508,GARD:0016537,,Rare inborn errors of metabolism +GARD:0003577,GARD:0022524,GARD:0016537,,Rare neurologic disease +GARD:0003577,GARD:0022522,GARD:0016537,,Rare hematologic disease +GARD:0003577,GARD:0022531,GARD:0016537,,Rare genetic disease +GARD:0003577,GARD:0022508,GARD:0016537,,Rare inborn errors of metabolism +GARD:0003579,GARD:0022531,GARD:0018951,GARD:0013137,Rare genetic disease +GARD:0003579,GARD:0022531,GARD:0019462,GARD:0012128,Rare genetic disease +GARD:0003579,GARD:0022508,GARD:0018951,GARD:0013137,Rare inborn errors of metabolism +GARD:0003579,GARD:0022522,GARD:0019462,GARD:0012621,Rare hematologic disease +GARD:0003579,GARD:0022531,GARD:0018951,GARD:0003582,Rare genetic disease +GARD:0003579,GARD:0022508,GARD:0018947,GARD:0013137,Rare inborn errors of metabolism +GARD:0003579,GARD:0022531,GARD:0018947,GARD:0003584,Rare genetic disease +GARD:0003579,GARD:0022508,GARD:0018947,GARD:0012621,Rare inborn errors of metabolism +GARD:0003579,GARD:0022508,GARD:0018947,GARD:0003584,Rare inborn errors of metabolism +GARD:0003579,GARD:0022531,GARD:0018951,GARD:0012621,Rare genetic disease +GARD:0003579,GARD:0022531,GARD:0018951,GARD:0003584,Rare genetic disease +GARD:0003579,GARD:0022522,GARD:0019462,GARD:0012128,Rare hematologic disease +GARD:0003579,GARD:0022531,GARD:0018947,GARD:0003582,Rare genetic disease +GARD:0003579,GARD:0022508,GARD:0018951,GARD:0012621,Rare inborn errors of metabolism +GARD:0003579,GARD:0022531,GARD:0018947,GARD:0013137,Rare genetic disease +GARD:0003579,GARD:0022522,GARD:0019462,GARD:0013137,Rare hematologic disease +GARD:0003579,GARD:0022531,GARD:0019462,GARD:0003582,Rare genetic disease +GARD:0003579,GARD:0022508,GARD:0018951,GARD:0003584,Rare inborn errors of metabolism +GARD:0003579,GARD:0022508,GARD:0018951,GARD:0003582,Rare inborn errors of metabolism +GARD:0003579,GARD:0022522,GARD:0019462,GARD:0003584,Rare hematologic disease +GARD:0003579,GARD:0022531,GARD:0018947,GARD:0012621,Rare genetic disease +GARD:0003579,GARD:0022508,GARD:0018947,GARD:0012128,Rare inborn errors of metabolism +GARD:0003579,GARD:0022508,GARD:0018947,GARD:0003582,Rare inborn errors of metabolism +GARD:0003579,GARD:0022508,GARD:0018951,GARD:0012128,Rare inborn errors of metabolism +GARD:0003579,GARD:0022522,GARD:0019462,GARD:0003582,Rare hematologic disease +GARD:0003579,GARD:0022531,GARD:0019462,GARD:0013137,Rare genetic disease +GARD:0003579,GARD:0022531,GARD:0018947,GARD:0012128,Rare genetic disease +GARD:0003579,GARD:0022531,GARD:0019462,GARD:0003584,Rare genetic disease +GARD:0003579,GARD:0022531,GARD:0018951,GARD:0012128,Rare genetic disease +GARD:0003579,GARD:0022531,GARD:0019462,GARD:0012621,Rare genetic disease +GARD:0003582,GARD:0022531,GARD:0003579,,Rare genetic disease +GARD:0003582,GARD:0022508,GARD:0003579,,Rare inborn errors of metabolism +GARD:0003582,GARD:0022522,GARD:0003579,,Rare hematologic disease +GARD:0003584,GARD:0022508,GARD:0003579,,Rare inborn errors of metabolism +GARD:0003584,GARD:0022531,GARD:0003579,,Rare genetic disease +GARD:0003584,GARD:0022522,GARD:0003579,,Rare hematologic disease +GARD:0003584,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003584,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003586,GARD:0022536,GARD:0022061,GARD:0016714,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003586,GARD:0022512,GARD:0019229,GARD:0016714,Rare renal disease +GARD:0003586,GARD:0022531,GARD:0013163,GARD:0017335,Rare genetic disease +GARD:0003586,GARD:0022536,GARD:0022061,GARD:0017335,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003586,GARD:0022531,GARD:0019229,GARD:0016714,Rare genetic disease +GARD:0003586,GARD:0022531,GARD:0019229,GARD:0017335,Rare genetic disease +GARD:0003586,GARD:0022531,GARD:0013163,GARD:0016714,Rare genetic disease +GARD:0003586,GARD:0022508,GARD:0013163,GARD:0017335,Rare inborn errors of metabolism +GARD:0003586,GARD:0022512,GARD:0019229,GARD:0017335,Rare renal disease +GARD:0003586,GARD:0022508,GARD:0013163,GARD:0016714,Rare inborn errors of metabolism +GARD:0003588,GARD:0022508,GARD:0021315,,Rare inborn errors of metabolism +GARD:0003588,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0003588,GARD:0021079,GARD:0021315,,Rare systemic or rheumatological disease of childhood +GARD:0003588,GARD:0022531,GARD:0021315,,Rare genetic disease +GARD:0003588,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003588,GARD:0022510,GARD:0021315,,Rare skin disease +GARD:0003588,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003588,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0003588,GARD:0022513,GARD:0021315,,Rare developmental defect during embryogenesis +GARD:0003588,GARD:0022525,GARD:0021315,,Rare systemic or rheumatologic disease +GARD:0003589,GARD:0022531,GARD:0019013,GARD:0016156,Rare genetic disease +GARD:0003589,GARD:0022524,GARD:0022440,GARD:0016156,Rare neurologic disease +GARD:0003589,GARD:0022531,GARD:0022440,GARD:0016156,Rare genetic disease +GARD:0003589,GARD:0022510,GARD:0019013,GARD:0016156,Rare skin disease +GARD:0003596,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0003596,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003596,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0003596,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0003596,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003596,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003596,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0003596,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0003596,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0003602,GARD:0022513,GARD:0021450,,Rare developmental defect during embryogenesis +GARD:0003602,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0003602,GARD:0022513,GARD:0019197,,Rare developmental defect during embryogenesis +GARD:0003602,GARD:0022511,GARD:0019197,,Rare bone disease +GARD:0003602,GARD:0022531,GARD:0021450,,Rare genetic disease +GARD:0003602,GARD:0022531,GARD:0019197,,Rare genetic disease +GARD:0003602,GARD:0022524,GARD:0021450,,Rare neurologic disease +GARD:0003602,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0003603,GARD:0022513,GARD:0020338,GARD:0012117,Rare developmental defect during embryogenesis +GARD:0003603,GARD:0022513,GARD:0020338,GARD:0003605,Rare developmental defect during embryogenesis +GARD:0003603,GARD:0022524,GARD:0020338,GARD:0012117,Rare neurologic disease +GARD:0003603,GARD:0022531,GARD:0021004,GARD:0012117,Rare genetic disease +GARD:0003603,GARD:0022531,GARD:0021004,GARD:0003605,Rare genetic disease +GARD:0003603,GARD:0022524,GARD:0020338,GARD:0003605,Rare neurologic disease +GARD:0003604,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003604,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003605,GARD:0022524,GARD:0019832,GARD:0016433,Rare neurologic disease +GARD:0003605,GARD:0022524,GARD:0003603,GARD:0016233,Rare neurologic disease +GARD:0003605,GARD:0022524,GARD:0003603,GARD:0016082,Rare neurologic disease +GARD:0003605,GARD:0022531,GARD:0003603,GARD:0016432,Rare genetic disease +GARD:0003605,GARD:0022513,GARD:0019832,GARD:0016433,Rare developmental defect during embryogenesis +GARD:0003605,GARD:0022524,GARD:0019832,GARD:0016432,Rare neurologic disease +GARD:0003605,GARD:0022531,GARD:0022441,GARD:0016233,Rare genetic disease +GARD:0003605,GARD:0022513,GARD:0019832,GARD:0016432,Rare developmental defect during embryogenesis +GARD:0003605,GARD:0022531,GARD:0003603,GARD:0016433,Rare genetic disease +GARD:0003605,GARD:0022513,GARD:0019832,GARD:0016082,Rare developmental defect during embryogenesis +GARD:0003605,GARD:0022531,GARD:0022441,GARD:0016432,Rare genetic disease +GARD:0003605,GARD:0022531,GARD:0022441,GARD:0016433,Rare genetic disease +GARD:0003605,GARD:0022513,GARD:0019832,GARD:0016233,Rare developmental defect during embryogenesis +GARD:0003605,GARD:0022513,GARD:0003603,GARD:0016082,Rare developmental defect during embryogenesis +GARD:0003605,GARD:0022524,GARD:0019832,GARD:0016233,Rare neurologic disease +GARD:0003605,GARD:0022513,GARD:0003603,GARD:0016432,Rare developmental defect during embryogenesis +GARD:0003605,GARD:0022524,GARD:0019832,GARD:0016082,Rare neurologic disease +GARD:0003605,GARD:0022531,GARD:0003603,GARD:0016233,Rare genetic disease +GARD:0003605,GARD:0022513,GARD:0003603,GARD:0016433,Rare developmental defect during embryogenesis +GARD:0003605,GARD:0022524,GARD:0003603,GARD:0016433,Rare neurologic disease +GARD:0003605,GARD:0022524,GARD:0003603,GARD:0016432,Rare neurologic disease +GARD:0003605,GARD:0022531,GARD:0022441,GARD:0016082,Rare genetic disease +GARD:0003605,GARD:0022513,GARD:0003603,GARD:0016233,Rare developmental defect during embryogenesis +GARD:0003605,GARD:0022531,GARD:0003603,GARD:0016082,Rare genetic disease +GARD:0003607,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003607,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0003607,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0003607,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0003607,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003607,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003609,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0003609,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0003609,GARD:0022515,GARD:0020529,,Rare cardiac disease +GARD:0003609,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003609,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003609,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003609,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0003609,GARD:0022531,GARD:0020529,,Rare genetic disease +GARD:0003609,GARD:0022536,GARD:0020529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003610,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0003610,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0003610,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003610,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003610,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003610,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0003615,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003615,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003615,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003617,GARD:0022529,GARD:0020233,,Rare infertility +GARD:0003617,GARD:0022521,GARD:0020233,,Rare endocrine disease +GARD:0003617,GARD:0022531,GARD:0020233,,Rare genetic disease +GARD:0003622,GARD:0022531,GARD:0018769,,Rare genetic disease +GARD:0003622,GARD:0022520,GARD:0022106,,Rare ophthalmic disorder +GARD:0003622,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0003622,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003622,GARD:0022527,GARD:0018769,,Rare circulatory system disease +GARD:0003622,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003622,GARD:0022510,GARD:0018769,,Rare skin disease +GARD:0003622,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0003622,GARD:0022531,GARD:0022106,,Rare genetic disease +GARD:0003622,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0003622,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0003622,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0003622,GARD:0022513,GARD:0018769,,Rare developmental defect during embryogenesis +GARD:0003627,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0003627,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0003627,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003627,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003627,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0003627,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0003627,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003627,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0003635,GARD:0022520,GARD:0016484,,Rare ophthalmic disorder +GARD:0003635,GARD:0022531,GARD:0016484,,Rare genetic disease +GARD:0003635,GARD:0022513,GARD:0016484,,Rare developmental defect during embryogenesis +GARD:0003637,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0003637,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0003640,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003640,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003640,GARD:0022534,GARD:0019858,,Rare abdominal surgical disease +GARD:0003640,GARD:0022513,GARD:0019858,,Rare developmental defect during embryogenesis +GARD:0003643,GARD:0022513,GARD:0016608,,Rare developmental defect during embryogenesis +GARD:0003643,GARD:0022511,GARD:0016608,,Rare bone disease +GARD:0003643,GARD:0022531,GARD:0016608,,Rare genetic disease +GARD:0003644,GARD:0022513,GARD:0012085,GARD:0015692,Rare developmental defect during embryogenesis +GARD:0003644,GARD:0022531,GARD:0012085,GARD:0015811,Rare genetic disease +GARD:0003644,GARD:0022520,GARD:0012085,GARD:0016110,Rare ophthalmic disorder +GARD:0003644,GARD:0022531,GARD:0012085,GARD:0015200,Rare genetic disease +GARD:0003644,GARD:0022520,GARD:0012085,GARD:0015471,Rare ophthalmic disorder +GARD:0003644,GARD:0022520,GARD:0012085,GARD:0015524,Rare ophthalmic disorder +GARD:0003644,GARD:0022520,GARD:0012085,GARD:0015200,Rare ophthalmic disorder +GARD:0003644,GARD:0022513,GARD:0012085,GARD:0015909,Rare developmental defect during embryogenesis +GARD:0003644,GARD:0022531,GARD:0012085,GARD:0016110,Rare genetic disease +GARD:0003644,GARD:0022513,GARD:0012085,GARD:0016110,Rare developmental defect during embryogenesis +GARD:0003644,GARD:0022531,GARD:0012085,GARD:0015909,Rare genetic disease +GARD:0003644,GARD:0022520,GARD:0012085,GARD:0015692,Rare ophthalmic disorder +GARD:0003644,GARD:0022513,GARD:0012085,GARD:0015524,Rare developmental defect during embryogenesis +GARD:0003644,GARD:0022520,GARD:0012085,GARD:0015909,Rare ophthalmic disorder +GARD:0003644,GARD:0022531,GARD:0012085,GARD:0015692,Rare genetic disease +GARD:0003644,GARD:0022531,GARD:0012085,GARD:0015524,Rare genetic disease +GARD:0003644,GARD:0022513,GARD:0012085,GARD:0015200,Rare developmental defect during embryogenesis +GARD:0003644,GARD:0022520,GARD:0012085,GARD:0015811,Rare ophthalmic disorder +GARD:0003644,GARD:0022513,GARD:0012085,GARD:0015471,Rare developmental defect during embryogenesis +GARD:0003644,GARD:0022513,GARD:0012085,GARD:0015385,Rare developmental defect during embryogenesis +GARD:0003644,GARD:0022513,GARD:0012085,GARD:0015811,Rare developmental defect during embryogenesis +GARD:0003644,GARD:0022520,GARD:0012085,GARD:0015385,Rare ophthalmic disorder +GARD:0003644,GARD:0022531,GARD:0012085,GARD:0015471,Rare genetic disease +GARD:0003644,GARD:0022531,GARD:0012085,GARD:0015385,Rare genetic disease +GARD:0003645,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0003645,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003645,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003645,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0003645,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0003645,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003645,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0003645,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0003650,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0003650,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0003650,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0003650,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0003650,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0003650,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0003650,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0003652,GARD:0022525,GARD:0013011,,Rare systemic or rheumatologic disease +GARD:0003652,GARD:0022527,GARD:0013011,,Rare circulatory system disease +GARD:0003652,GARD:0022536,GARD:0013011,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003652,GARD:0022517,GARD:0013011,,Rare respiratory disease +GARD:0003652,GARD:0022512,GARD:0022292,,Rare renal disease +GARD:0003652,GARD:0022524,GARD:0020416,,Rare neurologic disease +GARD:0003652,GARD:0021079,GARD:0013011,,Rare systemic or rheumatological disease of childhood +GARD:0003652,GARD:0022536,GARD:0022292,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003653,GARD:0022513,GARD:0019207,,Rare developmental defect during embryogenesis +GARD:0003653,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0003653,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003653,GARD:0022511,GARD:0019207,,Rare bone disease +GARD:0003653,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003653,GARD:0022531,GARD:0019207,,Rare genetic disease +GARD:0003653,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0003655,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0003659,GARD:0022531,GARD:0022441,GARD:0015272,Rare genetic disease +GARD:0003659,GARD:0022513,GARD:0019904,GARD:0015272,Rare developmental defect during embryogenesis +GARD:0003659,GARD:0022531,GARD:0019524,GARD:0015276,Rare genetic disease +GARD:0003659,GARD:0022524,GARD:0019832,GARD:0015276,Rare neurologic disease +GARD:0003659,GARD:0022531,GARD:0020342,GARD:0015272,Rare genetic disease +GARD:0003659,GARD:0022531,GARD:0020274,GARD:0015272,Rare genetic disease +GARD:0003659,GARD:0022513,GARD:0019874,GARD:0015272,Rare developmental defect during embryogenesis +GARD:0003659,GARD:0022531,GARD:0019524,GARD:0015272,Rare genetic disease +GARD:0003659,GARD:0022531,GARD:0020274,GARD:0015276,Rare genetic disease +GARD:0003659,GARD:0022520,GARD:0019524,GARD:0015272,Rare ophthalmic disorder +GARD:0003659,GARD:0022524,GARD:0019832,GARD:0015272,Rare neurologic disease +GARD:0003659,GARD:0022534,GARD:0019874,GARD:0015276,Rare abdominal surgical disease +GARD:0003659,GARD:0022513,GARD:0019832,GARD:0015272,Rare developmental defect during embryogenesis +GARD:0003659,GARD:0022513,GARD:0020342,GARD:0015272,Rare developmental defect during embryogenesis +GARD:0003659,GARD:0022531,GARD:0019874,GARD:0015276,Rare genetic disease +GARD:0003659,GARD:0022531,GARD:0022441,GARD:0015276,Rare genetic disease +GARD:0003659,GARD:0022513,GARD:0019874,GARD:0015276,Rare developmental defect during embryogenesis +GARD:0003659,GARD:0022531,GARD:0020342,GARD:0015276,Rare genetic disease +GARD:0003659,GARD:0022513,GARD:0019832,GARD:0015276,Rare developmental defect during embryogenesis +GARD:0003659,GARD:0022536,GARD:0019874,GARD:0015272,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003659,GARD:0022510,GARD:0019009,GARD:0015272,Rare skin disease +GARD:0003659,GARD:0022534,GARD:0019874,GARD:0015272,Rare abdominal surgical disease +GARD:0003659,GARD:0022531,GARD:0019874,GARD:0015272,Rare genetic disease +GARD:0003659,GARD:0022520,GARD:0019524,GARD:0015276,Rare ophthalmic disorder +GARD:0003659,GARD:0022510,GARD:0019009,GARD:0015276,Rare skin disease +GARD:0003659,GARD:0022531,GARD:0019904,GARD:0015272,Rare genetic disease +GARD:0003659,GARD:0022531,GARD:0019904,GARD:0015276,Rare genetic disease +GARD:0003659,GARD:0022513,GARD:0019904,GARD:0015276,Rare developmental defect during embryogenesis +GARD:0003659,GARD:0022520,GARD:0020342,GARD:0015272,Rare ophthalmic disorder +GARD:0003659,GARD:0022513,GARD:0020342,GARD:0015276,Rare developmental defect during embryogenesis +GARD:0003659,GARD:0022520,GARD:0020342,GARD:0015276,Rare ophthalmic disorder +GARD:0003659,GARD:0022536,GARD:0019874,GARD:0015276,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003668,GARD:0022524,GARD:0020612,,Rare neurologic disease +GARD:0003669,GARD:0022531,GARD:0020817,,Rare genetic disease +GARD:0003669,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0003669,GARD:0022524,GARD:0005049,,Rare neurologic disease +GARD:0003669,GARD:0022513,GARD:0005049,,Rare developmental defect during embryogenesis +GARD:0003669,GARD:0022531,GARD:0005049,,Rare genetic disease +GARD:0003669,GARD:0022513,GARD:0020817,,Rare developmental defect during embryogenesis +GARD:0003669,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0003671,GARD:0022531,GARD:0020756,,Rare genetic disease +GARD:0003671,GARD:0022508,GARD:0020756,,Rare inborn errors of metabolism +GARD:0003671,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0003671,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0003672,GARD:0022522,GARD:0019460,,Rare hematologic disease +GARD:0003672,GARD:0022531,GARD:0019460,,Rare genetic disease +GARD:0003681,GARD:0022531,GARD:0017225,,Rare genetic disease +GARD:0003681,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003681,GARD:0022508,GARD:0017225,,Rare inborn errors of metabolism +GARD:0003681,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003681,GARD:0022524,GARD:0017225,,Rare neurologic disease +GARD:0003682,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0003682,GARD:0022531,GARD:0020764,,Rare genetic disease +GARD:0003682,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0003682,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0003682,GARD:0022508,GARD:0020764,,Rare inborn errors of metabolism +GARD:0003682,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0003682,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0003684,GARD:0022508,GARD:0021317,,Rare inborn errors of metabolism +GARD:0003684,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0003684,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0003684,GARD:0022531,GARD:0021317,,Rare genetic disease +GARD:0003684,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0003684,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0003684,GARD:0022536,GARD:0020522,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003684,GARD:0022515,GARD:0020522,,Rare cardiac disease +GARD:0003684,GARD:0022531,GARD:0020522,,Rare genetic disease +GARD:0003685,GARD:0022513,GARD:0019266,,Rare developmental defect during embryogenesis +GARD:0003685,GARD:0022519,GARD:0019266,,Rare surgical cardiac disease +GARD:0003687,GARD:0022531,GARD:0021016,GARD:0003688,Rare genetic disease +GARD:0003687,GARD:0022531,GARD:0021016,GARD:0015421,Rare genetic disease +GARD:0003687,GARD:0022513,GARD:0019266,GARD:0003688,Rare developmental defect during embryogenesis +GARD:0003687,GARD:0022513,GARD:0019266,GARD:0015501,Rare developmental defect during embryogenesis +GARD:0003687,GARD:0022519,GARD:0019266,GARD:0015501,Rare surgical cardiac disease +GARD:0003687,GARD:0022519,GARD:0019266,GARD:0015421,Rare surgical cardiac disease +GARD:0003687,GARD:0022519,GARD:0019266,GARD:0003688,Rare surgical cardiac disease +GARD:0003687,GARD:0022513,GARD:0019266,GARD:0015421,Rare developmental defect during embryogenesis +GARD:0003687,GARD:0022531,GARD:0021016,GARD:0015501,Rare genetic disease +GARD:0003688,GARD:0022519,GARD:0003687,,Rare surgical cardiac disease +GARD:0003688,GARD:0022513,GARD:0003687,,Rare developmental defect during embryogenesis +GARD:0003688,GARD:0022531,GARD:0003687,,Rare genetic disease +GARD:0003690,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0003690,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0003690,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003690,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0003692,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0003692,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0003692,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0003693,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003693,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003693,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0003693,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003693,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0003693,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0003697,GARD:0022521,GARD:0020216,GARD:0016090,Rare endocrine disease +GARD:0003697,GARD:0022521,GARD:0020216,GARD:0016128,Rare endocrine disease +GARD:0003697,GARD:0022531,GARD:0020312,GARD:0015653,Rare genetic disease +GARD:0003697,GARD:0022531,GARD:0020312,GARD:0015392,Rare genetic disease +GARD:0003697,GARD:0022531,GARD:0020312,GARD:0003418,Rare genetic disease +GARD:0003697,GARD:0022531,GARD:0020312,GARD:0010657,Rare genetic disease +GARD:0003697,GARD:0022521,GARD:0020216,GARD:0010657,Rare endocrine disease +GARD:0003697,GARD:0022521,GARD:0020216,GARD:0015392,Rare endocrine disease +GARD:0003697,GARD:0022531,GARD:0020312,GARD:0016128,Rare genetic disease +GARD:0003697,GARD:0022531,GARD:0020312,GARD:0010658,Rare genetic disease +GARD:0003697,GARD:0022521,GARD:0020216,GARD:0003418,Rare endocrine disease +GARD:0003697,GARD:0022521,GARD:0020216,GARD:0010660,Rare endocrine disease +GARD:0003697,GARD:0022531,GARD:0020312,GARD:0010660,Rare genetic disease +GARD:0003697,GARD:0022531,GARD:0020312,GARD:0010663,Rare genetic disease +GARD:0003697,GARD:0022531,GARD:0020312,GARD:0016090,Rare genetic disease +GARD:0003697,GARD:0022521,GARD:0020216,GARD:0015653,Rare endocrine disease +GARD:0003697,GARD:0022531,GARD:0020312,GARD:0015652,Rare genetic disease +GARD:0003697,GARD:0022531,GARD:0020312,GARD:0010661,Rare genetic disease +GARD:0003697,GARD:0022521,GARD:0020216,GARD:0015652,Rare endocrine disease +GARD:0003697,GARD:0022521,GARD:0020216,GARD:0010661,Rare endocrine disease +GARD:0003697,GARD:0022521,GARD:0020216,GARD:0010663,Rare endocrine disease +GARD:0003697,GARD:0022531,GARD:0020312,GARD:0010662,Rare genetic disease +GARD:0003697,GARD:0022521,GARD:0020216,GARD:0010658,Rare endocrine disease +GARD:0003697,GARD:0022521,GARD:0020216,GARD:0010662,Rare endocrine disease +GARD:0003697,GARD:0022521,GARD:0020216,GARD:0010659,Rare endocrine disease +GARD:0003697,GARD:0022531,GARD:0020312,GARD:0010659,Rare genetic disease +GARD:0003698,GARD:0022529,GARD:0020219,,Rare infertility +GARD:0003698,GARD:0022531,GARD:0020219,,Rare genetic disease +GARD:0003698,GARD:0022521,GARD:0020219,,Rare endocrine disease +GARD:0003698,GARD:0022514,GARD:0020219,,Rare gynecologic or obstetric disease +GARD:0003699,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003699,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0003699,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003699,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0003699,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003701,GARD:0022528,GARD:0010692,,Rare otorhinolaryngologic disease +GARD:0003701,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0003701,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003701,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0003701,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0003701,GARD:0022513,GARD:0010692,,Rare developmental defect during embryogenesis +GARD:0003701,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003701,GARD:0022511,GARD:0010692,,Rare bone disease +GARD:0003701,GARD:0022531,GARD:0010692,,Rare genetic disease +GARD:0003701,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003701,GARD:0022507,GARD:0010692,,Rare maxillo-facial surgical disease +GARD:0003704,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0003704,GARD:0022531,GARD:0022106,,Rare genetic disease +GARD:0003704,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0003704,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0003704,GARD:0022520,GARD:0022106,,Rare ophthalmic disorder +GARD:0003705,GARD:0022513,GARD:0016549,GARD:0017388,Rare developmental defect during embryogenesis +GARD:0003705,GARD:0022531,GARD:0021352,GARD:0017388,Rare genetic disease +GARD:0003705,GARD:0022531,GARD:0016549,GARD:0017386,Rare genetic disease +GARD:0003705,GARD:0022508,GARD:0021352,GARD:0017386,Rare inborn errors of metabolism +GARD:0003705,GARD:0022524,GARD:0016549,GARD:0017388,Rare neurologic disease +GARD:0003705,GARD:0022531,GARD:0016549,GARD:0017387,Rare genetic disease +GARD:0003705,GARD:0022513,GARD:0016549,GARD:0017387,Rare developmental defect during embryogenesis +GARD:0003705,GARD:0022520,GARD:0016549,GARD:0017388,Rare ophthalmic disorder +GARD:0003705,GARD:0022531,GARD:0021352,GARD:0017386,Rare genetic disease +GARD:0003705,GARD:0022531,GARD:0016549,GARD:0017388,Rare genetic disease +GARD:0003705,GARD:0022524,GARD:0016549,GARD:0017387,Rare neurologic disease +GARD:0003705,GARD:0022520,GARD:0016549,GARD:0017387,Rare ophthalmic disorder +GARD:0003705,GARD:0022508,GARD:0021352,GARD:0017387,Rare inborn errors of metabolism +GARD:0003705,GARD:0022531,GARD:0021352,GARD:0017387,Rare genetic disease +GARD:0003705,GARD:0022524,GARD:0016549,GARD:0017386,Rare neurologic disease +GARD:0003705,GARD:0022508,GARD:0021352,GARD:0017388,Rare inborn errors of metabolism +GARD:0003705,GARD:0022508,GARD:0016549,GARD:0017387,Rare inborn errors of metabolism +GARD:0003705,GARD:0022508,GARD:0016549,GARD:0017388,Rare inborn errors of metabolism +GARD:0003705,GARD:0022520,GARD:0016549,GARD:0017386,Rare ophthalmic disorder +GARD:0003705,GARD:0022513,GARD:0016549,GARD:0017386,Rare developmental defect during embryogenesis +GARD:0003705,GARD:0022508,GARD:0016549,GARD:0017386,Rare inborn errors of metabolism +GARD:0003707,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0003707,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0003707,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0003711,GARD:0022531,GARD:0020830,,Rare genetic disease +GARD:0003711,GARD:0022513,GARD:0020830,,Rare developmental defect during embryogenesis +GARD:0003738,GARD:0022531,GARD:0020821,,Rare genetic disease +GARD:0003738,GARD:0022513,GARD:0020821,,Rare developmental defect during embryogenesis +GARD:0003746,GARD:0022513,GARD:0020822,,Rare developmental defect during embryogenesis +GARD:0003746,GARD:0022531,GARD:0020822,,Rare genetic disease +GARD:0003746,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0003746,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0003750,GARD:0022513,GARD:0000037,,Rare developmental defect during embryogenesis +GARD:0003750,GARD:0022531,GARD:0010892,,Rare genetic disease +GARD:0003750,GARD:0022513,GARD:0010892,,Rare developmental defect during embryogenesis +GARD:0003750,GARD:0022531,GARD:0000037,,Rare genetic disease +GARD:0003750,GARD:0022520,GARD:0010892,,Rare ophthalmic disorder +GARD:0003750,GARD:0022524,GARD:0010892,,Rare neurologic disease +GARD:0003764,GARD:0022513,GARD:0020826,,Rare developmental defect during embryogenesis +GARD:0003764,GARD:0022531,GARD:0020826,,Rare genetic disease +GARD:0003765,GARD:0022522,GARD:0007132,GARD:0018506,Rare hematologic disease +GARD:0003765,GARD:0022535,GARD:0007132,GARD:0018505,Rare neoplastic disease +GARD:0003765,GARD:0022522,GARD:0007132,GARD:0018505,Rare hematologic disease +GARD:0003765,GARD:0022536,GARD:0007132,GARD:0018506,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003765,GARD:0022536,GARD:0007132,GARD:0018505,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003765,GARD:0022535,GARD:0007132,GARD:0018506,Rare neoplastic disease +GARD:0003769,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0003769,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0003769,GARD:0022513,GARD:0020812,,Rare developmental defect during embryogenesis +GARD:0003769,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0003769,GARD:0022531,GARD:0020812,,Rare genetic disease +GARD:0003773,GARD:0022531,GARD:0020813,,Rare genetic disease +GARD:0003773,GARD:0022513,GARD:0020813,,Rare developmental defect during embryogenesis +GARD:0003785,GARD:0022511,GARD:0012562,,Rare bone disease +GARD:0003785,GARD:0022536,GARD:0012562,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003785,GARD:0022508,GARD:0012562,,Rare inborn errors of metabolism +GARD:0003785,GARD:0022520,GARD:0012562,,Rare ophthalmic disorder +GARD:0003785,GARD:0022513,GARD:0012562,,Rare developmental defect during embryogenesis +GARD:0003785,GARD:0022531,GARD:0012562,,Rare genetic disease +GARD:0003786,GARD:0022508,GARD:0012562,,Rare inborn errors of metabolism +GARD:0003786,GARD:0022536,GARD:0012562,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003786,GARD:0022531,GARD:0012562,,Rare genetic disease +GARD:0003786,GARD:0022511,GARD:0012562,,Rare bone disease +GARD:0003786,GARD:0022520,GARD:0012562,,Rare ophthalmic disorder +GARD:0003786,GARD:0022513,GARD:0012562,,Rare developmental defect during embryogenesis +GARD:0003787,GARD:0022521,GARD:0022053,,Rare endocrine disease +GARD:0003787,GARD:0022516,GARD:0022053,,Rare gastroenterologic disease +GARD:0003787,GARD:0022535,GARD:0022053,,Rare neoplastic disease +GARD:0003788,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0003788,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0003788,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0003788,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0003791,GARD:0022531,GARD:0021878,,Rare genetic disease +GARD:0003791,GARD:0022524,GARD:0012959,,Rare neurologic disease +GARD:0003793,GARD:0022517,GARD:0022517,,Rare respiratory disease +GARD:0003795,GARD:0022524,GARD:0021403,,Rare neurologic disease +GARD:0003795,GARD:0022520,GARD:0019521,,Rare ophthalmic disorder +GARD:0003795,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0003795,GARD:0022531,GARD:0021403,,Rare genetic disease +GARD:0003795,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0003795,GARD:0022531,GARD:0019521,,Rare genetic disease +GARD:0003806,GARD:0022508,GARD:0018975,GARD:0017704,Rare inborn errors of metabolism +GARD:0003806,GARD:0022531,GARD:0019203,GARD:0017705,Rare genetic disease +GARD:0003806,GARD:0022531,GARD:0019203,GARD:0017704,Rare genetic disease +GARD:0003806,GARD:0022511,GARD:0019203,GARD:0017705,Rare bone disease +GARD:0003806,GARD:0022511,GARD:0019203,GARD:0017704,Rare bone disease +GARD:0003806,GARD:0022531,GARD:0018975,GARD:0017704,Rare genetic disease +GARD:0003806,GARD:0022508,GARD:0018975,GARD:0017705,Rare inborn errors of metabolism +GARD:0003806,GARD:0022513,GARD:0018975,GARD:0017705,Rare developmental defect during embryogenesis +GARD:0003806,GARD:0022531,GARD:0018975,GARD:0017705,Rare genetic disease +GARD:0003806,GARD:0022513,GARD:0018975,GARD:0017704,Rare developmental defect during embryogenesis +GARD:0003807,GARD:0022511,GARD:0007065,GARD:0007071,Rare bone disease +GARD:0003807,GARD:0022511,GARD:0019203,GARD:0007074,Rare bone disease +GARD:0003807,GARD:0022531,GARD:0020550,GARD:0007073,Rare genetic disease +GARD:0003807,GARD:0022524,GARD:0018890,GARD:0007074,Rare neurologic disease +GARD:0003807,GARD:0022531,GARD:0019203,GARD:0007072,Rare genetic disease +GARD:0003807,GARD:0022511,GARD:0019203,GARD:0007071,Rare bone disease +GARD:0003807,GARD:0022531,GARD:0007065,GARD:0007072,Rare genetic disease +GARD:0003807,GARD:0022520,GARD:0019529,GARD:0007074,Rare ophthalmic disorder +GARD:0003807,GARD:0022508,GARD:0007065,GARD:0007074,Rare inborn errors of metabolism +GARD:0003807,GARD:0022511,GARD:0019203,GARD:0007073,Rare bone disease +GARD:0003807,GARD:0022524,GARD:0020550,GARD:0007072,Rare neurologic disease +GARD:0003807,GARD:0022513,GARD:0007065,GARD:0007072,Rare developmental defect during embryogenesis +GARD:0003807,GARD:0022524,GARD:0018890,GARD:0007073,Rare neurologic disease +GARD:0003807,GARD:0022524,GARD:0020550,GARD:0007074,Rare neurologic disease +GARD:0003807,GARD:0022508,GARD:0007065,GARD:0007072,Rare inborn errors of metabolism +GARD:0003807,GARD:0022513,GARD:0007065,GARD:0007071,Rare developmental defect during embryogenesis +GARD:0003807,GARD:0022536,GARD:0007065,GARD:0007073,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003807,GARD:0022524,GARD:0018890,GARD:0007072,Rare neurologic disease +GARD:0003807,GARD:0022531,GARD:0018890,GARD:0007074,Rare genetic disease +GARD:0003807,GARD:0022511,GARD:0019203,GARD:0007072,Rare bone disease +GARD:0003807,GARD:0022520,GARD:0007065,GARD:0007071,Rare ophthalmic disorder +GARD:0003807,GARD:0022520,GARD:0019529,GARD:0007073,Rare ophthalmic disorder +GARD:0003807,GARD:0022520,GARD:0019529,GARD:0007072,Rare ophthalmic disorder +GARD:0003807,GARD:0022520,GARD:0007065,GARD:0007073,Rare ophthalmic disorder +GARD:0003807,GARD:0022531,GARD:0007065,GARD:0007071,Rare genetic disease +GARD:0003807,GARD:0022511,GARD:0007065,GARD:0007074,Rare bone disease +GARD:0003807,GARD:0022513,GARD:0007065,GARD:0007074,Rare developmental defect during embryogenesis +GARD:0003807,GARD:0022536,GARD:0007065,GARD:0007072,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003807,GARD:0022520,GARD:0007065,GARD:0007072,Rare ophthalmic disorder +GARD:0003807,GARD:0022531,GARD:0019529,GARD:0007072,Rare genetic disease +GARD:0003807,GARD:0022524,GARD:0018890,GARD:0007071,Rare neurologic disease +GARD:0003807,GARD:0022513,GARD:0007065,GARD:0007073,Rare developmental defect during embryogenesis +GARD:0003807,GARD:0022531,GARD:0020550,GARD:0007074,Rare genetic disease +GARD:0003807,GARD:0022531,GARD:0019203,GARD:0007074,Rare genetic disease +GARD:0003807,GARD:0022508,GARD:0007065,GARD:0007071,Rare inborn errors of metabolism +GARD:0003807,GARD:0022531,GARD:0019529,GARD:0007074,Rare genetic disease +GARD:0003807,GARD:0022524,GARD:0020550,GARD:0007073,Rare neurologic disease +GARD:0003807,GARD:0022531,GARD:0018890,GARD:0007071,Rare genetic disease +GARD:0003807,GARD:0022531,GARD:0007065,GARD:0007074,Rare genetic disease +GARD:0003807,GARD:0022508,GARD:0007065,GARD:0007073,Rare inborn errors of metabolism +GARD:0003807,GARD:0022531,GARD:0019203,GARD:0007073,Rare genetic disease +GARD:0003807,GARD:0022520,GARD:0007065,GARD:0007074,Rare ophthalmic disorder +GARD:0003807,GARD:0022531,GARD:0019203,GARD:0007071,Rare genetic disease +GARD:0003807,GARD:0022531,GARD:0018890,GARD:0007072,Rare genetic disease +GARD:0003807,GARD:0022531,GARD:0020550,GARD:0007071,Rare genetic disease +GARD:0003807,GARD:0022536,GARD:0007065,GARD:0007074,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003807,GARD:0022531,GARD:0018890,GARD:0007073,Rare genetic disease +GARD:0003807,GARD:0022520,GARD:0019529,GARD:0007071,Rare ophthalmic disorder +GARD:0003807,GARD:0022524,GARD:0020550,GARD:0007071,Rare neurologic disease +GARD:0003807,GARD:0022536,GARD:0007065,GARD:0007071,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003807,GARD:0022511,GARD:0007065,GARD:0007073,Rare bone disease +GARD:0003807,GARD:0022511,GARD:0007065,GARD:0007072,Rare bone disease +GARD:0003807,GARD:0022531,GARD:0019529,GARD:0007071,Rare genetic disease +GARD:0003807,GARD:0022531,GARD:0020550,GARD:0007072,Rare genetic disease +GARD:0003807,GARD:0022531,GARD:0019529,GARD:0007073,Rare genetic disease +GARD:0003807,GARD:0022531,GARD:0007065,GARD:0007073,Rare genetic disease +GARD:0003818,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0003818,GARD:0022531,GARD:0019204,,Rare genetic disease +GARD:0003818,GARD:0022511,GARD:0019204,,Rare bone disease +GARD:0003818,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0003818,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003818,GARD:0022513,GARD:0019204,,Rare developmental defect during embryogenesis +GARD:0003818,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0003824,GARD:0022531,GARD:0018947,GARD:0002721,Rare genetic disease +GARD:0003824,GARD:0022510,GARD:0018978,GARD:0000894,Rare skin disease +GARD:0003824,GARD:0022531,GARD:0019015,GARD:0000894,Rare genetic disease +GARD:0003824,GARD:0022508,GARD:0018947,GARD:0002721,Rare inborn errors of metabolism +GARD:0003824,GARD:0022531,GARD:0018947,GARD:0000894,Rare genetic disease +GARD:0003824,GARD:0022531,GARD:0019015,GARD:0002721,Rare genetic disease +GARD:0003824,GARD:0022508,GARD:0018947,GARD:0000894,Rare inborn errors of metabolism +GARD:0003824,GARD:0022510,GARD:0018978,GARD:0002721,Rare skin disease +GARD:0003829,GARD:0022531,GARD:0021044,,Rare genetic disease +GARD:0003829,GARD:0022535,GARD:0021044,,Rare neoplastic disease +GARD:0003829,GARD:0022521,GARD:0021044,,Rare endocrine disease +GARD:0003829,GARD:0022535,GARD:0019765,,Rare neoplastic disease +GARD:0003829,GARD:0022535,GARD:0002837,,Rare neoplastic disease +GARD:0003829,GARD:0022531,GARD:0002837,,Rare genetic disease +GARD:0003829,GARD:0022521,GARD:0021388,,Rare endocrine disease +GARD:0003829,GARD:0022535,GARD:0021793,,Rare neoplastic disease +GARD:0003829,GARD:0022531,GARD:0021793,,Rare genetic disease +GARD:0003829,GARD:0022521,GARD:0019765,,Rare endocrine disease +GARD:0003829,GARD:0022516,GARD:0021793,,Rare gastroenterologic disease +GARD:0003830,GARD:0022535,GARD:0021793,GARD:0010225,Rare neoplastic disease +GARD:0003830,GARD:0022535,GARD:0021793,GARD:0004881,Rare neoplastic disease +GARD:0003830,GARD:0022521,GARD:0021044,GARD:0010225,Rare endocrine disease +GARD:0003830,GARD:0022535,GARD:0021044,GARD:0004881,Rare neoplastic disease +GARD:0003830,GARD:0022521,GARD:0019763,GARD:0010225,Rare endocrine disease +GARD:0003830,GARD:0022521,GARD:0019763,GARD:0004881,Rare endocrine disease +GARD:0003830,GARD:0022531,GARD:0021793,GARD:0010225,Rare genetic disease +GARD:0003830,GARD:0022535,GARD:0019763,GARD:0004881,Rare neoplastic disease +GARD:0003830,GARD:0022531,GARD:0021793,GARD:0004881,Rare genetic disease +GARD:0003830,GARD:0022516,GARD:0021793,GARD:0010225,Rare gastroenterologic disease +GARD:0003830,GARD:0022521,GARD:0021044,GARD:0004881,Rare endocrine disease +GARD:0003830,GARD:0022531,GARD:0021044,GARD:0010225,Rare genetic disease +GARD:0003830,GARD:0022535,GARD:0019763,GARD:0010225,Rare neoplastic disease +GARD:0003830,GARD:0022531,GARD:0021044,GARD:0004881,Rare genetic disease +GARD:0003830,GARD:0022535,GARD:0021044,GARD:0010225,Rare neoplastic disease +GARD:0003830,GARD:0022516,GARD:0021793,GARD:0004881,Rare gastroenterologic disease +GARD:0003834,GARD:0022531,GARD:0021177,,Rare genetic disease +GARD:0003834,GARD:0022513,GARD:0021177,,Rare developmental defect during embryogenesis +GARD:0003834,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0003834,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0003836,GARD:0022531,GARD:0019212,GARD:0015115,Rare genetic disease +GARD:0003836,GARD:0022528,GARD:0019145,GARD:0009916,Rare otorhinolaryngologic disease +GARD:0003836,GARD:0022513,GARD:0019212,GARD:0015597,Rare developmental defect during embryogenesis +GARD:0003836,GARD:0022513,GARD:0019212,GARD:0009916,Rare developmental defect during embryogenesis +GARD:0003836,GARD:0022513,GARD:0019145,GARD:0015115,Rare developmental defect during embryogenesis +GARD:0003836,GARD:0022511,GARD:0019212,GARD:0015597,Rare bone disease +GARD:0003836,GARD:0022528,GARD:0019145,GARD:0015597,Rare otorhinolaryngologic disease +GARD:0003836,GARD:0022511,GARD:0019212,GARD:0009916,Rare bone disease +GARD:0003836,GARD:0022513,GARD:0019145,GARD:0009916,Rare developmental defect during embryogenesis +GARD:0003836,GARD:0022531,GARD:0019145,GARD:0015115,Rare genetic disease +GARD:0003836,GARD:0022528,GARD:0019145,GARD:0015115,Rare otorhinolaryngologic disease +GARD:0003836,GARD:0022531,GARD:0019145,GARD:0009916,Rare genetic disease +GARD:0003836,GARD:0022513,GARD:0019145,GARD:0015597,Rare developmental defect during embryogenesis +GARD:0003836,GARD:0022511,GARD:0019212,GARD:0015115,Rare bone disease +GARD:0003836,GARD:0022531,GARD:0019212,GARD:0009916,Rare genetic disease +GARD:0003836,GARD:0022513,GARD:0019212,GARD:0015115,Rare developmental defect during embryogenesis +GARD:0003836,GARD:0022531,GARD:0019212,GARD:0015597,Rare genetic disease +GARD:0003836,GARD:0022531,GARD:0019145,GARD:0015597,Rare genetic disease +GARD:0003843,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003843,GARD:0022531,GARD:0020396,,Rare genetic disease +GARD:0003843,GARD:0022531,GARD:0009138,,Rare genetic disease +GARD:0003843,GARD:0022524,GARD:0009138,,Rare neurologic disease +GARD:0003843,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003844,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0003844,GARD:0022531,GARD:0020400,,Rare genetic disease +GARD:0003844,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0003851,GARD:0022531,GARD:0020526,,Rare genetic disease +GARD:0003851,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0003851,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0003851,GARD:0022515,GARD:0020526,,Rare cardiac disease +GARD:0003851,GARD:0022531,GARD:0020391,,Rare genetic disease +GARD:0003851,GARD:0022536,GARD:0020526,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003856,GARD:0022514,GARD:0020194,,Rare gynecologic or obstetric disease +GARD:0003856,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0003856,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0003856,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0003856,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0003856,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0003858,GARD:0022524,GARD:0020370,,Rare neurologic disease +GARD:0003858,GARD:0022531,GARD:0018691,,Rare genetic disease +GARD:0003858,GARD:0022508,GARD:0018691,,Rare inborn errors of metabolism +GARD:0003858,GARD:0022531,GARD:0020370,,Rare genetic disease +GARD:0003862,GARD:0022509,GARD:0020047,,Rare infectious disease +GARD:0003862,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0003863,GARD:0022536,GARD:0020166,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003863,GARD:0022510,GARD:0020166,,Rare skin disease +GARD:0003863,GARD:0022522,GARD:0020166,,Rare hematologic disease +GARD:0003863,GARD:0022535,GARD:0020166,,Rare neoplastic disease +GARD:0003865,GARD:0022531,GARD:0020285,,Rare genetic disease +GARD:0003865,GARD:0022524,GARD:0019815,,Rare neurologic disease +GARD:0003868,GARD:0022523,GARD:0020321,,Rare immune disease +GARD:0003868,GARD:0022531,GARD:0020321,,Rare genetic disease +GARD:0003872,GARD:0022531,GARD:0007140,,Rare genetic disease +GARD:0003872,GARD:0022524,GARD:0007140,,Rare neurologic disease +GARD:0003873,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0003873,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0003873,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0003873,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0003873,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0003875,GARD:0022531,GARD:0007140,,Rare genetic disease +GARD:0003875,GARD:0022524,GARD:0007140,,Rare neurologic disease +GARD:0003875,GARD:0022524,GARD:0019478,,Rare neurologic disease +GARD:0003875,GARD:0022531,GARD:0019478,,Rare genetic disease +GARD:0003876,GARD:0022531,GARD:0022440,GARD:0015556,Rare genetic disease +GARD:0003876,GARD:0022524,GARD:0022440,GARD:0015556,Rare neurologic disease +GARD:0003876,GARD:0022524,GARD:0007140,GARD:0015556,Rare neurologic disease +GARD:0003876,GARD:0022531,GARD:0007140,GARD:0015556,Rare genetic disease +GARD:0003879,GARD:0022531,GARD:0016916,,Rare genetic disease +GARD:0003879,GARD:0022524,GARD:0016916,,Rare neurologic disease +GARD:0003879,GARD:0022508,GARD:0016916,,Rare inborn errors of metabolism +GARD:0003881,GARD:0022508,GARD:0020757,,Rare inborn errors of metabolism +GARD:0003881,GARD:0022531,GARD:0020369,,Rare genetic disease +GARD:0003881,GARD:0022524,GARD:0020369,,Rare neurologic disease +GARD:0003881,GARD:0022521,GARD:0020217,,Rare endocrine disease +GARD:0003881,GARD:0022531,GARD:0020757,,Rare genetic disease +GARD:0003881,GARD:0022531,GARD:0020312,,Rare genetic disease +GARD:0003884,GARD:0022531,GARD:0005898,GARD:0016026,Rare genetic disease +GARD:0003884,GARD:0022524,GARD:0005898,GARD:0016026,Rare neurologic disease +GARD:0003885,GARD:0022524,GARD:0020371,GARD:0015676,Rare neurologic disease +GARD:0003885,GARD:0022531,GARD:0019453,GARD:0015676,Rare genetic disease +GARD:0003885,GARD:0022531,GARD:0018814,GARD:0015676,Rare genetic disease +GARD:0003885,GARD:0022531,GARD:0020371,GARD:0015312,Rare genetic disease +GARD:0003885,GARD:0022531,GARD:0019453,GARD:0015312,Rare genetic disease +GARD:0003885,GARD:0022522,GARD:0019453,GARD:0015676,Rare hematologic disease +GARD:0003885,GARD:0022508,GARD:0018814,GARD:0015676,Rare inborn errors of metabolism +GARD:0003885,GARD:0022522,GARD:0019453,GARD:0015312,Rare hematologic disease +GARD:0003885,GARD:0022524,GARD:0022440,GARD:0015312,Rare neurologic disease +GARD:0003885,GARD:0022524,GARD:0020371,GARD:0015312,Rare neurologic disease +GARD:0003885,GARD:0022531,GARD:0018814,GARD:0015312,Rare genetic disease +GARD:0003885,GARD:0022531,GARD:0022440,GARD:0015676,Rare genetic disease +GARD:0003885,GARD:0022531,GARD:0020371,GARD:0015676,Rare genetic disease +GARD:0003885,GARD:0022508,GARD:0018814,GARD:0015312,Rare inborn errors of metabolism +GARD:0003885,GARD:0022531,GARD:0022440,GARD:0015312,Rare genetic disease +GARD:0003885,GARD:0022524,GARD:0022440,GARD:0015676,Rare neurologic disease +GARD:0003889,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0003889,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0003889,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0003889,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003889,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0003889,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0003889,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003889,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0003889,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003892,GARD:0022531,GARD:0020360,,Rare genetic disease +GARD:0003892,GARD:0022524,GARD:0020364,,Rare neurologic disease +GARD:0003892,GARD:0022531,GARD:0020364,,Rare genetic disease +GARD:0003892,GARD:0022524,GARD:0020360,,Rare neurologic disease +GARD:0003896,GARD:0022525,GARD:0009128,,Rare systemic or rheumatologic disease +GARD:0003896,GARD:0022524,GARD:0009128,,Rare neurologic disease +GARD:0003902,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003902,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0003902,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003902,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0003902,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003902,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0003902,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0003902,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0003903,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0003903,GARD:0022531,GARD:0016621,,Rare genetic disease +GARD:0003903,GARD:0022520,GARD:0016621,,Rare ophthalmic disorder +GARD:0003903,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0003903,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0003903,GARD:0022508,GARD:0016621,,Rare inborn errors of metabolism +GARD:0003903,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0003903,GARD:0022524,GARD:0016621,,Rare neurologic disease +GARD:0003904,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003904,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0003904,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003904,GARD:0022523,GARD:0020114,,Rare immune disease +GARD:0003904,GARD:0022536,GARD:0020114,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003904,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003904,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003904,GARD:0022531,GARD:0020114,,Rare genetic disease +GARD:0003904,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0003904,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016315,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016431,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016313,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016328,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016320,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0015284,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016328,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016320,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016312,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016322,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016324,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016323,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016321,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016401,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016401,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016320,Rare neurologic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016321,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016326,Rare neurologic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016329,Rare inborn errors of metabolism +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016313,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016329,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016332,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016317,Rare inborn errors of metabolism +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016316,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016321,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016330,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016319,Rare neurologic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016312,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016319,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016327,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016315,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016321,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016319,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016314,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016332,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016378,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016431,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016314,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016315,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016331,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0015284,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016320,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016313,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016325,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016431,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016318,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0015283,Rare inborn errors of metabolism +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016320,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016312,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016327,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016332,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016378,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016401,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016329,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016312,Rare neurologic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016324,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016317,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016327,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016324,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016320,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016317,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016327,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016325,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016315,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016317,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016316,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016329,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0015284,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0015284,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016320,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016431,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016314,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016329,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016325,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016321,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016321,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016320,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016431,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016431,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0015283,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016313,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016331,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016330,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016401,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016312,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016322,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016312,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016324,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0015283,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016328,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016326,Rare genetic disease 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+GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016328,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0015201,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016440,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016329,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016440,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016325,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0015201,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016325,Rare inborn errors of metabolism +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016314,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016330,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016401,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016325,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0015283,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016401,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016314,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016314,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016317,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016330,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016331,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016317,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016312,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016324,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016316,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016401,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016326,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016330,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016318,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016325,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016331,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0015283,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0015284,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016323,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016327,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016431,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016323,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016328,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0015201,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016329,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016316,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016322,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016323,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0015284,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016321,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016323,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016324,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016317,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016317,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016313,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0015284,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016319,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016323,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0015283,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016327,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016331,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016322,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016324,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016330,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016401,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016440,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016431,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016320,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016316,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016326,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0015284,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016318,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016314,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016319,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016378,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016327,Rare inborn errors of metabolism +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016328,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016440,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016330,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016329,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016324,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016324,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016322,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016316,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0015201,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016315,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016440,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016326,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016322,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016378,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016378,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016329,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016440,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016318,Rare inborn errors of metabolism +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016322,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016313,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0015201,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016327,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016323,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016323,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016331,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016440,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016327,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016324,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016326,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0015283,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016326,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016330,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016316,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016378,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016328,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016315,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016440,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016332,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016331,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016332,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016328,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016322,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016319,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016401,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016313,Rare inborn errors of metabolism +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016322,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016378,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016317,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016312,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016326,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016431,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016330,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0015283,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016314,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016316,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016331,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0015201,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0015201,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016327,Rare neurologic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016323,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016378,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0018890,GARD:0016313,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016440,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020555,GARD:0016318,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016315,Rare inborn errors of metabolism +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016331,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0020371,GARD:0016328,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016329,Rare neurologic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016318,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0022440,GARD:0016328,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016322,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016326,Rare inborn errors of metabolism +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0015201,Rare genetic disease +GARD:0003908,GARD:0022524,GARD:0022440,GARD:0016315,Rare neurologic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016332,Rare genetic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016319,Rare inborn errors of metabolism +GARD:0003908,GARD:0022524,GARD:0020555,GARD:0016331,Rare neurologic disease +GARD:0003908,GARD:0022508,GARD:0020766,GARD:0016332,Rare inborn errors of metabolism +GARD:0003908,GARD:0022531,GARD:0020371,GARD:0016313,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0020766,GARD:0016378,Rare genetic disease +GARD:0003908,GARD:0022531,GARD:0018890,GARD:0016318,Rare genetic disease +GARD:0003909,GARD:0022536,GARD:0002659,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003909,GARD:0022531,GARD:0002659,,Rare genetic disease +GARD:0003909,GARD:0022524,GARD:0002659,,Rare neurologic disease +GARD:0003909,GARD:0022522,GARD:0002659,,Rare hematologic disease +GARD:0003912,GARD:0022510,GARD:0019448,,Rare skin disease +GARD:0003912,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0003912,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0003912,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0003912,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0003912,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0003912,GARD:0022531,GARD:0019448,,Rare genetic disease +GARD:0003916,GARD:0021079,GARD:0013824,,Rare systemic or rheumatological disease of childhood +GARD:0003916,GARD:0022521,GARD:0013824,,Rare endocrine disease +GARD:0003916,GARD:0022510,GARD:0013824,,Rare skin disease +GARD:0003916,GARD:0022531,GARD:0013824,,Rare genetic disease +GARD:0003916,GARD:0022525,GARD:0013824,,Rare systemic or rheumatologic disease +GARD:0003919,GARD:0022521,GARD:0012556,,Rare endocrine disease +GARD:0003919,GARD:0022531,GARD:0012556,,Rare genetic disease +GARD:0003921,GARD:0022521,GARD:0012556,GARD:0016538,Rare endocrine disease +GARD:0003921,GARD:0022521,GARD:0012556,GARD:0016677,Rare endocrine disease +GARD:0003921,GARD:0022531,GARD:0012556,GARD:0016538,Rare genetic disease +GARD:0003921,GARD:0022531,GARD:0012556,GARD:0016677,Rare genetic disease +GARD:0003924,GARD:0022531,GARD:0020012,GARD:0017133,Rare genetic disease +GARD:0003924,GARD:0022521,GARD:0019146,GARD:0006859,Rare endocrine disease +GARD:0003924,GARD:0022531,GARD:0020313,GARD:0006859,Rare genetic disease +GARD:0003924,GARD:0022521,GARD:0019146,GARD:0016964,Rare endocrine disease +GARD:0003924,GARD:0022521,GARD:0019146,GARD:0010609,Rare endocrine disease +GARD:0003924,GARD:0022521,GARD:0019146,GARD:0017435,Rare endocrine disease +GARD:0003924,GARD:0022531,GARD:0020012,GARD:0017435,Rare genetic disease +GARD:0003924,GARD:0022531,GARD:0020012,GARD:0010627,Rare genetic disease +GARD:0003924,GARD:0022531,GARD:0020313,GARD:0016964,Rare genetic disease +GARD:0003924,GARD:0022521,GARD:0019146,GARD:0017133,Rare endocrine disease +GARD:0003924,GARD:0022531,GARD:0020313,GARD:0010609,Rare genetic disease +GARD:0003924,GARD:0022531,GARD:0020012,GARD:0010609,Rare genetic disease +GARD:0003924,GARD:0022531,GARD:0020313,GARD:0010627,Rare genetic disease +GARD:0003924,GARD:0022531,GARD:0020012,GARD:0006859,Rare genetic disease +GARD:0003924,GARD:0022531,GARD:0020012,GARD:0016964,Rare genetic disease +GARD:0003924,GARD:0022531,GARD:0020313,GARD:0017435,Rare genetic disease +GARD:0003924,GARD:0022531,GARD:0020313,GARD:0017133,Rare genetic disease +GARD:0003924,GARD:0022521,GARD:0019146,GARD:0010627,Rare endocrine disease +GARD:0003927,GARD:0022520,GARD:0019500,,Rare ophthalmic disorder +GARD:0003927,GARD:0022531,GARD:0019500,,Rare genetic disease +GARD:0003927,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003927,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003927,GARD:0022513,GARD:0019500,,Rare developmental defect during embryogenesis +GARD:0003928,GARD:0022531,GARD:0012744,,Rare genetic disease +GARD:0003928,GARD:0022516,GARD:0012744,,Rare gastroenterologic disease +GARD:0003928,GARD:0022536,GARD:0012744,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003929,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0003929,GARD:0022536,GARD:0020529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003929,GARD:0022515,GARD:0020529,,Rare cardiac disease +GARD:0003929,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0003929,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0003929,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0003929,GARD:0022531,GARD:0020529,,Rare genetic disease +GARD:0003929,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0003931,GARD:0022517,GARD:0021729,,Rare respiratory disease +GARD:0003931,GARD:0021079,GARD:0021729,,Rare systemic or rheumatological disease of childhood +GARD:0003931,GARD:0022525,GARD:0021729,,Rare systemic or rheumatologic disease +GARD:0003931,GARD:0022520,GARD:0021101,,Rare ophthalmic disorder +GARD:0003931,GARD:0022536,GARD:0021729,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003936,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0003936,GARD:0022512,GARD:0021420,,Rare renal disease +GARD:0003936,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0003936,GARD:0022535,GARD:0021420,,Rare neoplastic disease +GARD:0003936,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0003936,GARD:0022531,GARD:0021420,,Rare genetic disease +GARD:0003936,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0003940,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0003940,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0003940,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0003943,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0003943,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0003943,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0003943,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003943,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003943,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003943,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0003943,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0003943,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0003943,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0003943,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0003943,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0015925,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0016045,Rare genetic disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0015353,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0016167,Rare renal disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0015564,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0016435,Rare genetic disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0015989,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0015422,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0015636,Rare genetic disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0015495,Rare genetic disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0016300,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0015353,Rare renal disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0015353,Rare genetic disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0015761,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0015925,Rare renal disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0015770,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0016155,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0015495,Rare renal disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0016428,Rare genetic disease +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0016299,Rare renal disease +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0015989,Rare renal disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0016428,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0016301,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0015285,Rare renal disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0015210,Rare genetic disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0015761,Rare genetic disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0015285,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0015564,Rare genetic disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0015422,Rare genetic disease +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0015362,Rare renal disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0016051,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0015761,Rare renal disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0016070,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0016167,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0016051,Rare genetic disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0015362,Rare genetic disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0015210,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0016045,Rare renal disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0015989,Rare genetic disease +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0016302,Rare renal disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0016302,Rare genetic disease +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0015636,Rare renal disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0016070,Rare genetic disease +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0016166,Rare renal disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0015285,Rare genetic disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0015636,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0016301,Rare genetic disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0016299,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0015210,Rare renal disease +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0016435,Rare renal disease +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0016070,Rare renal disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0016155,Rare genetic disease +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0015564,Rare renal disease +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0016428,Rare renal disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0016300,Rare genetic disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0016302,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0016299,Rare genetic disease +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0016300,Rare renal disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0015326,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0015422,Rare renal disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0015326,Rare genetic disease +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0015770,Rare renal disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0015495,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0016301,Rare renal disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0016166,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0016155,Rare renal disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0016045,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0016051,Rare renal disease +GARD:0003946,GARD:0022512,GARD:0022265,GARD:0015326,Rare renal disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0015925,Rare genetic disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0016167,Rare genetic disease +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0016166,Rare genetic disease +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0015362,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022536,GARD:0022265,GARD:0016435,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003946,GARD:0022531,GARD:0022265,GARD:0015770,Rare genetic disease +GARD:0003947,GARD:0022531,GARD:0019213,GARD:0021055,Rare genetic disease +GARD:0003947,GARD:0022521,GARD:0021053,GARD:0021055,Rare endocrine disease +GARD:0003947,GARD:0022513,GARD:0019213,GARD:0020067,Rare developmental defect during embryogenesis +GARD:0003947,GARD:0022521,GARD:0021053,GARD:0020067,Rare endocrine disease +GARD:0003947,GARD:0022513,GARD:0019213,GARD:0021055,Rare developmental defect during embryogenesis +GARD:0003947,GARD:0022531,GARD:0021053,GARD:0020067,Rare genetic disease +GARD:0003947,GARD:0022531,GARD:0019213,GARD:0020067,Rare genetic disease +GARD:0003947,GARD:0022531,GARD:0021053,GARD:0021055,Rare genetic disease +GARD:0003948,GARD:0022524,GARD:0021269,,Rare neurologic disease +GARD:0003949,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0003949,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0003953,GARD:0022531,GARD:0019203,,Rare genetic disease +GARD:0003953,GARD:0022508,GARD:0018977,,Rare inborn errors of metabolism +GARD:0003953,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0003953,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0003953,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0003953,GARD:0022531,GARD:0018977,,Rare genetic disease +GARD:0003953,GARD:0022511,GARD:0019203,,Rare bone disease +GARD:0003953,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0003955,GARD:0022524,GARD:0004228,,Rare neurologic disease +GARD:0003956,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0003956,GARD:0022524,GARD:0020559,,Rare neurologic disease +GARD:0003956,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0003956,GARD:0022531,GARD:0010902,,Rare genetic disease +GARD:0003956,GARD:0022531,GARD:0020559,,Rare genetic disease +GARD:0003956,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0003956,GARD:0022524,GARD:0010902,,Rare neurologic disease +GARD:0003956,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0003956,GARD:0022531,GARD:0018991,,Rare genetic disease +GARD:0003956,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0003957,GARD:0022508,GARD:0012567,GARD:0010688,Rare inborn errors of metabolism +GARD:0003957,GARD:0022531,GARD:0012567,GARD:0010688,Rare genetic disease +GARD:0003957,GARD:0022524,GARD:0012567,GARD:0010688,Rare neurologic disease +GARD:0003957,GARD:0022531,GARD:0010711,GARD:0010688,Rare genetic disease +GARD:0003957,GARD:0022524,GARD:0010711,GARD:0010688,Rare neurologic disease +GARD:0003964,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0003964,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0003964,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0003964,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0003964,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0003964,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0003964,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003967,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0003967,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0003971,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0003971,GARD:0022524,GARD:0021267,,Rare neurologic disease +GARD:0003971,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0003971,GARD:0022524,GARD:0019096,,Rare neurologic disease +GARD:0003971,GARD:0022531,GARD:0021285,,Rare genetic disease +GARD:0003972,GARD:0022506,GARD:0020769,,Rare hepatic disease +GARD:0003972,GARD:0022531,GARD:0020769,,Rare genetic disease +GARD:0003972,GARD:0022508,GARD:0020769,,Rare inborn errors of metabolism +GARD:0003973,GARD:0022524,GARD:0012440,,Rare neurologic disease +GARD:0003973,GARD:0022531,GARD:0012440,,Rare genetic disease +GARD:0003976,GARD:0022524,GARD:0019929,GARD:0015618,Rare neurologic disease +GARD:0003976,GARD:0022531,GARD:0019929,GARD:0015774,Rare genetic disease +GARD:0003976,GARD:0022524,GARD:0019929,GARD:0015774,Rare neurologic disease +GARD:0003976,GARD:0022531,GARD:0019929,GARD:0015129,Rare genetic disease +GARD:0003976,GARD:0022524,GARD:0019929,GARD:0015129,Rare neurologic disease +GARD:0003976,GARD:0022531,GARD:0019929,GARD:0015618,Rare genetic disease +GARD:0003979,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0003979,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0003979,GARD:0022531,GARD:0021114,,Rare genetic disease +GARD:0003979,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0003979,GARD:0022508,GARD:0003262,,Rare inborn errors of metabolism +GARD:0003979,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0003979,GARD:0022524,GARD:0003262,,Rare neurologic disease +GARD:0003979,GARD:0022510,GARD:0021114,,Rare skin disease +GARD:0003979,GARD:0022531,GARD:0003262,,Rare genetic disease +GARD:0003981,GARD:0022523,GARD:0013592,,Rare immune disease +GARD:0003981,GARD:0022531,GARD:0013592,,Rare genetic disease +GARD:0003981,GARD:0022536,GARD:0013592,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003982,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0003982,GARD:0022531,GARD:0021508,,Rare genetic disease +GARD:0003982,GARD:0022536,GARD:0021508,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0003982,GARD:0022523,GARD:0021508,,Rare immune disease +GARD:0003982,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0003982,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0003986,GARD:0022513,GARD:0020461,,Rare developmental defect during embryogenesis +GARD:0003986,GARD:0022531,GARD:0021921,,Rare genetic disease +GARD:0003986,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0003986,GARD:0022531,GARD:0020273,,Rare genetic disease +GARD:0003986,GARD:0022527,GARD:0020461,,Rare circulatory system disease +GARD:0003994,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0003994,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0003995,GARD:0022520,GARD:0022105,GARD:0015488,Rare ophthalmic disorder +GARD:0003995,GARD:0022531,GARD:0022105,GARD:0015096,Rare genetic disease +GARD:0003995,GARD:0022531,GARD:0022105,GARD:0015485,Rare genetic disease +GARD:0003995,GARD:0022520,GARD:0022105,GARD:0016099,Rare ophthalmic disorder +GARD:0003995,GARD:0022531,GARD:0022105,GARD:0015721,Rare genetic disease +GARD:0003995,GARD:0022520,GARD:0022105,GARD:0015721,Rare ophthalmic disorder +GARD:0003995,GARD:0022531,GARD:0022105,GARD:0015816,Rare genetic disease +GARD:0003995,GARD:0022520,GARD:0022105,GARD:0015096,Rare ophthalmic disorder +GARD:0003995,GARD:0022531,GARD:0022105,GARD:0015487,Rare genetic disease +GARD:0003995,GARD:0022520,GARD:0022105,GARD:0015816,Rare ophthalmic disorder +GARD:0003995,GARD:0022531,GARD:0022105,GARD:0015631,Rare genetic disease +GARD:0003995,GARD:0022520,GARD:0022105,GARD:0015251,Rare ophthalmic disorder +GARD:0003995,GARD:0022531,GARD:0022105,GARD:0016177,Rare genetic disease +GARD:0003995,GARD:0022531,GARD:0022105,GARD:0015306,Rare genetic disease +GARD:0003995,GARD:0022531,GARD:0022105,GARD:0015251,Rare genetic disease +GARD:0003995,GARD:0022520,GARD:0022105,GARD:0015306,Rare ophthalmic disorder +GARD:0003995,GARD:0022531,GARD:0022105,GARD:0015212,Rare genetic disease +GARD:0003995,GARD:0022520,GARD:0022105,GARD:0015899,Rare ophthalmic disorder +GARD:0003995,GARD:0022520,GARD:0022105,GARD:0015631,Rare ophthalmic disorder +GARD:0003995,GARD:0022531,GARD:0022105,GARD:0015899,Rare genetic disease +GARD:0003995,GARD:0022531,GARD:0022105,GARD:0015488,Rare genetic disease +GARD:0003995,GARD:0022520,GARD:0022105,GARD:0016177,Rare ophthalmic disorder +GARD:0003995,GARD:0022520,GARD:0022105,GARD:0015485,Rare ophthalmic disorder +GARD:0003995,GARD:0022531,GARD:0022105,GARD:0016099,Rare genetic disease +GARD:0003995,GARD:0022520,GARD:0022105,GARD:0015487,Rare ophthalmic disorder +GARD:0003995,GARD:0022520,GARD:0022105,GARD:0015212,Rare ophthalmic disorder +GARD:0003999,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0003999,GARD:0022520,GARD:0022096,,Rare ophthalmic disorder +GARD:0003999,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0003999,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0003999,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0003999,GARD:0022531,GARD:0022096,,Rare genetic disease +GARD:0004001,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0004003,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0004003,GARD:0022508,GARD:0020756,,Rare inborn errors of metabolism +GARD:0004003,GARD:0022521,GARD:0020217,,Rare endocrine disease +GARD:0004003,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0004003,GARD:0022531,GARD:0020312,,Rare genetic disease +GARD:0004003,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0004003,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0004003,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0004003,GARD:0022531,GARD:0020756,,Rare genetic disease +GARD:0004010,GARD:0022531,GARD:0010739,,Rare genetic disease +GARD:0004010,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004010,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004010,GARD:0022508,GARD:0010739,,Rare inborn errors of metabolism +GARD:0004010,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004010,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0004010,GARD:0022524,GARD:0007140,,Rare neurologic disease +GARD:0004010,GARD:0022531,GARD:0007140,,Rare genetic disease +GARD:0004010,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0004010,GARD:0022524,GARD:0010739,,Rare neurologic disease +GARD:0004011,GARD:0022512,GARD:0016539,,Rare renal disease +GARD:0004011,GARD:0022536,GARD:0016539,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004011,GARD:0022522,GARD:0020235,,Rare hematologic disease +GARD:0004011,GARD:0022508,GARD:0016539,,Rare inborn errors of metabolism +GARD:0004011,GARD:0022520,GARD:0016539,,Rare ophthalmic disorder +GARD:0004011,GARD:0022531,GARD:0016539,,Rare genetic disease +GARD:0004011,GARD:0022521,GARD:0016539,,Rare endocrine disease +GARD:0004011,GARD:0022531,GARD:0020235,,Rare genetic disease +GARD:0004014,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0004014,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0004014,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0004014,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0004014,GARD:0022513,GARD:0021914,,Rare developmental defect during embryogenesis +GARD:0004014,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0004014,GARD:0022531,GARD:0021914,,Rare genetic disease +GARD:0004014,GARD:0022527,GARD:0021914,,Rare circulatory system disease +GARD:0004017,GARD:0022518,GARD:0006227,,Rare surgical thoracic disease +GARD:0004017,GARD:0022513,GARD:0006227,,Rare developmental defect during embryogenesis +GARD:0004017,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004017,GARD:0022531,GARD:0021354,,Rare genetic disease +GARD:0004017,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004017,GARD:0022531,GARD:0006227,,Rare genetic disease +GARD:0004017,GARD:0022508,GARD:0021354,,Rare inborn errors of metabolism +GARD:0004017,GARD:0022510,GARD:0006227,,Rare skin disease +GARD:0004017,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004017,GARD:0022534,GARD:0006227,,Rare abdominal surgical disease +GARD:0004018,GARD:0022524,GARD:0020974,,Rare neurologic disease +GARD:0004018,GARD:0022513,GARD:0020974,,Rare developmental defect during embryogenesis +GARD:0004018,GARD:0022531,GARD:0020974,,Rare genetic disease +GARD:0004031,GARD:0022513,GARD:0002392,,Rare developmental defect during embryogenesis +GARD:0004031,GARD:0022531,GARD:0002392,,Rare genetic disease +GARD:0004031,GARD:0022511,GARD:0002392,,Rare bone disease +GARD:0004034,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004034,GARD:0022520,GARD:0021125,,Rare ophthalmic disorder +GARD:0004034,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0004034,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0004034,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0004034,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0004034,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004034,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0004034,GARD:0022531,GARD:0021125,,Rare genetic disease +GARD:0004034,GARD:0022510,GARD:0021125,,Rare skin disease +GARD:0004034,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004037,GARD:0022510,GARD:0010958,GARD:0016721,Rare skin disease +GARD:0004037,GARD:0022520,GARD:0010958,GARD:0016721,Rare ophthalmic disorder +GARD:0004037,GARD:0022508,GARD:0010958,GARD:0016721,Rare inborn errors of metabolism +GARD:0004037,GARD:0022531,GARD:0010958,GARD:0000594,Rare genetic disease +GARD:0004037,GARD:0022510,GARD:0010958,GARD:0017530,Rare skin disease +GARD:0004037,GARD:0022520,GARD:0010958,GARD:0000594,Rare ophthalmic disorder +GARD:0004037,GARD:0022531,GARD:0010958,GARD:0016721,Rare genetic disease +GARD:0004037,GARD:0022508,GARD:0010958,GARD:0000594,Rare inborn errors of metabolism +GARD:0004037,GARD:0022520,GARD:0010958,GARD:0017530,Rare ophthalmic disorder +GARD:0004037,GARD:0022531,GARD:0010958,GARD:0021529,Rare genetic disease +GARD:0004037,GARD:0022508,GARD:0010958,GARD:0017530,Rare inborn errors of metabolism +GARD:0004037,GARD:0022510,GARD:0010958,GARD:0021529,Rare skin disease +GARD:0004037,GARD:0022510,GARD:0010958,GARD:0000594,Rare skin disease +GARD:0004037,GARD:0022520,GARD:0010958,GARD:0021529,Rare ophthalmic disorder +GARD:0004037,GARD:0022531,GARD:0010958,GARD:0017530,Rare genetic disease +GARD:0004037,GARD:0022508,GARD:0010958,GARD:0021529,Rare inborn errors of metabolism +GARD:0004038,GARD:0022508,GARD:0010958,,Rare inborn errors of metabolism +GARD:0004038,GARD:0022531,GARD:0010958,,Rare genetic disease +GARD:0004038,GARD:0022520,GARD:0010958,,Rare ophthalmic disorder +GARD:0004038,GARD:0022510,GARD:0010958,,Rare skin disease +GARD:0004039,GARD:0022531,GARD:0010958,,Rare genetic disease +GARD:0004039,GARD:0022510,GARD:0010958,,Rare skin disease +GARD:0004039,GARD:0022508,GARD:0010958,,Rare inborn errors of metabolism +GARD:0004039,GARD:0022520,GARD:0010958,,Rare ophthalmic disorder +GARD:0004046,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0004046,GARD:0022511,GARD:0019207,,Rare bone disease +GARD:0004046,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0004046,GARD:0022531,GARD:0019207,,Rare genetic disease +GARD:0004046,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0004046,GARD:0022513,GARD:0019207,,Rare developmental defect during embryogenesis +GARD:0004046,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0004047,GARD:0022531,GARD:0000786,,Rare genetic disease +GARD:0004047,GARD:0022513,GARD:0000786,,Rare developmental defect during embryogenesis +GARD:0004049,GARD:0022513,GARD:0001118,,Rare developmental defect during embryogenesis +GARD:0004049,GARD:0022524,GARD:0001118,,Rare neurologic disease +GARD:0004049,GARD:0022511,GARD:0001118,,Rare bone disease +GARD:0004049,GARD:0022531,GARD:0001118,,Rare genetic disease +GARD:0004050,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0004050,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004050,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0004050,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004050,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0004050,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0004050,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0004050,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0004050,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004050,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004051,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0004051,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0004051,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0004051,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0004051,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0004051,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0004053,GARD:0022510,GARD:0019001,,Rare skin disease +GARD:0004053,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0004053,GARD:0022531,GARD:0019001,,Rare genetic disease +GARD:0004053,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0004054,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0004054,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0004054,GARD:0022510,GARD:0021293,,Rare skin disease +GARD:0004054,GARD:0022531,GARD:0021293,,Rare genetic disease +GARD:0004054,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0004054,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0004054,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0004054,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0004060,GARD:0022531,GARD:0010692,,Rare genetic disease +GARD:0004060,GARD:0022513,GARD:0010692,,Rare developmental defect during embryogenesis +GARD:0004060,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0004060,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0004060,GARD:0022507,GARD:0010692,,Rare maxillo-facial surgical disease +GARD:0004060,GARD:0022511,GARD:0010692,,Rare bone disease +GARD:0004060,GARD:0022528,GARD:0010692,,Rare otorhinolaryngologic disease +GARD:0004060,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0004061,GARD:0022511,GARD:0010692,,Rare bone disease +GARD:0004061,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004061,GARD:0022513,GARD:0010692,,Rare developmental defect during embryogenesis +GARD:0004061,GARD:0022507,GARD:0010692,,Rare maxillo-facial surgical disease +GARD:0004061,GARD:0022528,GARD:0010692,,Rare otorhinolaryngologic disease +GARD:0004061,GARD:0022531,GARD:0010692,,Rare genetic disease +GARD:0004061,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004061,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004062,GARD:0022508,GARD:0020769,,Rare inborn errors of metabolism +GARD:0004062,GARD:0022506,GARD:0020769,,Rare hepatic disease +GARD:0004062,GARD:0022524,GARD:0019415,,Rare neurologic disease +GARD:0004062,GARD:0022531,GARD:0019415,,Rare genetic disease +GARD:0004062,GARD:0022531,GARD:0020769,,Rare genetic disease +GARD:0004064,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004064,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004064,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004065,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0004065,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0004065,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0004066,GARD:0022512,GARD:0019217,,Rare renal disease +GARD:0004066,GARD:0022536,GARD:0019217,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004066,GARD:0022513,GARD:0019217,,Rare developmental defect during embryogenesis +GARD:0004069,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0004069,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0004069,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004069,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0004069,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004069,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004070,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0004070,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0004070,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0004071,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0004071,GARD:0022520,GARD:0022115,,Rare ophthalmic disorder +GARD:0004071,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0004071,GARD:0022531,GARD:0020029,,Rare genetic disease +GARD:0004071,GARD:0022524,GARD:0020029,,Rare neurologic disease +GARD:0004071,GARD:0022531,GARD:0022150,,Rare genetic disease +GARD:0004072,GARD:0022524,GARD:0020029,,Rare neurologic disease +GARD:0004072,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0004072,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0004072,GARD:0022520,GARD:0022115,,Rare ophthalmic disorder +GARD:0004072,GARD:0022531,GARD:0020029,,Rare genetic disease +GARD:0004072,GARD:0022531,GARD:0022150,,Rare genetic disease +GARD:0004075,GARD:0022510,GARD:0021292,GARD:0015273,Rare skin disease +GARD:0004075,GARD:0022531,GARD:0021292,GARD:0015273,Rare genetic disease +GARD:0004075,GARD:0022531,GARD:0021292,GARD:0015818,Rare genetic disease +GARD:0004075,GARD:0022531,GARD:0021292,GARD:0016437,Rare genetic disease +GARD:0004075,GARD:0022510,GARD:0021292,GARD:0015818,Rare skin disease +GARD:0004075,GARD:0022510,GARD:0021292,GARD:0016437,Rare skin disease +GARD:0004076,GARD:0022511,GARD:0016608,,Rare bone disease +GARD:0004076,GARD:0022531,GARD:0016608,,Rare genetic disease +GARD:0004076,GARD:0022513,GARD:0016608,,Rare developmental defect during embryogenesis +GARD:0004079,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0004079,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004079,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004079,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0004079,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004079,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0004079,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0004079,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0004079,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0004080,GARD:0022531,GARD:0002207,,Rare genetic disease +GARD:0004080,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0004080,GARD:0022532,GARD:0002207,,Rare urogenital disease +GARD:0004080,GARD:0022513,GARD:0002207,,Rare developmental defect during embryogenesis +GARD:0004080,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0004080,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004080,GARD:0022536,GARD:0002207,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004080,GARD:0022534,GARD:0002207,,Rare abdominal surgical disease +GARD:0004080,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0004080,GARD:0022512,GARD:0002207,,Rare renal disease +GARD:0004081,GARD:0022534,GARD:0019863,,Rare abdominal surgical disease +GARD:0004081,GARD:0022513,GARD:0019863,,Rare developmental defect during embryogenesis +GARD:0004083,GARD:0022510,GARD:0019001,,Rare skin disease +GARD:0004083,GARD:0022513,GARD:0022022,,Rare developmental defect during embryogenesis +GARD:0004083,GARD:0022531,GARD:0019001,,Rare genetic disease +GARD:0004083,GARD:0022511,GARD:0022022,,Rare bone disease +GARD:0004083,GARD:0022531,GARD:0022022,,Rare genetic disease +GARD:0004085,GARD:0022523,GARD:0021508,,Rare immune disease +GARD:0004085,GARD:0022531,GARD:0020545,,Rare genetic disease +GARD:0004085,GARD:0022510,GARD:0020545,,Rare skin disease +GARD:0004085,GARD:0022531,GARD:0021508,,Rare genetic disease +GARD:0004085,GARD:0022536,GARD:0021508,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004098,GARD:0022531,GARD:0019193,,Rare genetic disease +GARD:0004098,GARD:0022511,GARD:0019193,,Rare bone disease +GARD:0004098,GARD:0022513,GARD:0019193,,Rare developmental defect during embryogenesis +GARD:0004106,GARD:0022531,GARD:0022117,,Rare genetic disease +GARD:0004106,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0004106,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004106,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0004106,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0004106,GARD:0022513,GARD:0022117,,Rare developmental defect during embryogenesis +GARD:0004106,GARD:0022520,GARD:0022117,,Rare ophthalmic disorder +GARD:0004107,GARD:0022521,GARD:0019279,,Rare endocrine disease +GARD:0004107,GARD:0022535,GARD:0012697,,Rare neoplastic disease +GARD:0004107,GARD:0022524,GARD:0012697,,Rare neurologic disease +GARD:0004116,GARD:0022531,GARD:0021573,GARD:0001261,Rare genetic disease +GARD:0004116,GARD:0022507,GARD:0019996,GARD:0001261,Rare maxillo-facial surgical disease +GARD:0004116,GARD:0022513,GARD:0019996,GARD:0019954,Rare developmental defect during embryogenesis +GARD:0004116,GARD:0022513,GARD:0021573,GARD:0019954,Rare developmental defect during embryogenesis +GARD:0004116,GARD:0022507,GARD:0019996,GARD:0000068,Rare maxillo-facial surgical disease +GARD:0004116,GARD:0022513,GARD:0019996,GARD:0000068,Rare developmental defect during embryogenesis +GARD:0004116,GARD:0022531,GARD:0021573,GARD:0000068,Rare genetic disease +GARD:0004116,GARD:0022513,GARD:0021573,GARD:0001261,Rare developmental defect during embryogenesis +GARD:0004116,GARD:0022531,GARD:0021573,GARD:0019954,Rare genetic disease +GARD:0004116,GARD:0022511,GARD:0021573,GARD:0001261,Rare bone disease +GARD:0004116,GARD:0022531,GARD:0019996,GARD:0000068,Rare genetic disease +GARD:0004116,GARD:0022531,GARD:0019996,GARD:0019954,Rare genetic disease +GARD:0004116,GARD:0022513,GARD:0019996,GARD:0001261,Rare developmental defect during embryogenesis +GARD:0004116,GARD:0022511,GARD:0021573,GARD:0019954,Rare bone disease +GARD:0004116,GARD:0022531,GARD:0019996,GARD:0001261,Rare genetic disease +GARD:0004116,GARD:0022507,GARD:0019996,GARD:0019954,Rare maxillo-facial surgical disease +GARD:0004116,GARD:0022513,GARD:0021573,GARD:0000068,Rare developmental defect during embryogenesis +GARD:0004116,GARD:0022511,GARD:0021573,GARD:0000068,Rare bone disease +GARD:0004118,GARD:0022511,GARD:0010692,,Rare bone disease +GARD:0004118,GARD:0022528,GARD:0010692,,Rare otorhinolaryngologic disease +GARD:0004118,GARD:0022513,GARD:0010692,,Rare developmental defect during embryogenesis +GARD:0004118,GARD:0022507,GARD:0010692,,Rare maxillo-facial surgical disease +GARD:0004118,GARD:0022531,GARD:0010692,,Rare genetic disease +GARD:0004119,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004119,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004119,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004120,GARD:0022528,GARD:0010692,,Rare otorhinolaryngologic disease +GARD:0004120,GARD:0022507,GARD:0010692,,Rare maxillo-facial surgical disease +GARD:0004120,GARD:0022513,GARD:0010692,,Rare developmental defect during embryogenesis +GARD:0004120,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004120,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004120,GARD:0022511,GARD:0010692,,Rare bone disease +GARD:0004120,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004120,GARD:0022531,GARD:0010692,,Rare genetic disease +GARD:0004121,GARD:0022510,GARD:0019002,,Rare skin disease +GARD:0004121,GARD:0022513,GARD:0010692,,Rare developmental defect during embryogenesis +GARD:0004121,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0004121,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004121,GARD:0022528,GARD:0010692,,Rare otorhinolaryngologic disease +GARD:0004121,GARD:0022507,GARD:0010692,,Rare maxillo-facial surgical disease +GARD:0004121,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0004121,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0004121,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0004121,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0004121,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0004121,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0004121,GARD:0022531,GARD:0020268,,Rare genetic disease +GARD:0004121,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004121,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004121,GARD:0022531,GARD:0010692,,Rare genetic disease +GARD:0004121,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0004121,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004121,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0004121,GARD:0022511,GARD:0010692,,Rare bone disease +GARD:0004129,GARD:0022531,GARD:0019212,,Rare genetic disease +GARD:0004129,GARD:0022513,GARD:0019212,,Rare developmental defect during embryogenesis +GARD:0004129,GARD:0022511,GARD:0019212,,Rare bone disease +GARD:0004129,GARD:0022531,GARD:0020289,,Rare genetic disease +GARD:0004129,GARD:0022535,GARD:0018892,,Rare neoplastic disease +GARD:0004129,GARD:0022511,GARD:0018892,,Rare bone disease +GARD:0004130,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0004130,GARD:0022531,GARD:0019187,,Rare genetic disease +GARD:0004130,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0004130,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0004130,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0004131,GARD:0022531,GARD:0021669,,Rare genetic disease +GARD:0004131,GARD:0022511,GARD:0012704,,Rare bone disease +GARD:0004131,GARD:0022525,GARD:0012704,,Rare systemic or rheumatologic disease +GARD:0004133,GARD:0022525,GARD:0021657,,Rare systemic or rheumatologic disease +GARD:0004133,GARD:0022531,GARD:0021576,,Rare genetic disease +GARD:0004133,GARD:0022511,GARD:0021657,,Rare bone disease +GARD:0004133,GARD:0022531,GARD:0021667,,Rare genetic disease +GARD:0004136,GARD:0022513,GARD:0019207,,Rare developmental defect during embryogenesis +GARD:0004136,GARD:0022511,GARD:0019207,,Rare bone disease +GARD:0004136,GARD:0022531,GARD:0019207,,Rare genetic disease +GARD:0004139,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0004139,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0004139,GARD:0022531,GARD:0022094,,Rare genetic disease +GARD:0004139,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0004139,GARD:0022520,GARD:0022094,,Rare ophthalmic disorder +GARD:0004139,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0004139,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0004142,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0004142,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0004142,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0004142,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0004142,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0004142,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0004148,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0004148,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004148,GARD:0022513,GARD:0019390,,Rare developmental defect during embryogenesis +GARD:0004148,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0004148,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0004148,GARD:0022531,GARD:0020294,,Rare genetic disease +GARD:0004151,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0004151,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0004151,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004151,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0004153,GARD:0022536,GARD:0010082,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004153,GARD:0022511,GARD:0010082,,Rare bone disease +GARD:0004153,GARD:0022513,GARD:0010082,,Rare developmental defect during embryogenesis +GARD:0004153,GARD:0022531,GARD:0010082,,Rare genetic disease +GARD:0004154,GARD:0022513,GARD:0004155,GARD:0015228,Rare developmental defect during embryogenesis +GARD:0004154,GARD:0022524,GARD:0022440,GARD:0015228,Rare neurologic disease +GARD:0004154,GARD:0022531,GARD:0007552,GARD:0015228,Rare genetic disease +GARD:0004154,GARD:0022512,GARD:0007552,GARD:0015228,Rare renal disease +GARD:0004154,GARD:0022531,GARD:0004155,GARD:0015228,Rare genetic disease +GARD:0004154,GARD:0022511,GARD:0004155,GARD:0015228,Rare bone disease +GARD:0004154,GARD:0022536,GARD:0004155,GARD:0015228,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004154,GARD:0022531,GARD:0022440,GARD:0015228,Rare genetic disease +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0001044,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0015012,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0010106,Rare bone disease +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0017931,Rare genetic disease +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0017931,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0018021,Rare genetic disease +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0009474,Rare bone disease +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0009474,Rare genetic disease +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0004154,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0000383,Rare bone disease +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0016681,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0004156,Rare genetic disease +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0004154,Rare genetic disease +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0013390,Rare bone disease +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0010106,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0010082,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0018021,Rare bone disease +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0017027,Rare bone disease +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0004611,Rare genetic disease +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0022246,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0002012,Rare bone disease +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0018021,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0015012,Rare genetic disease +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0002012,Rare genetic disease +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0016915,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0002012,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0022246,Rare genetic disease +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0004148,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0015012,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0004156,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0016915,Rare genetic disease +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0009474,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0000391,Rare genetic disease +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0022246,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0022246,Rare bone disease +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0004151,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0004156,Rare bone disease +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0016681,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0000383,Rare genetic disease +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0009474,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0001044,Rare genetic disease +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0003690,Rare genetic disease +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0004611,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0010106,Rare genetic disease +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0010082,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0016681,Rare bone disease +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0004148,Rare bone disease +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0001044,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0016681,Rare genetic disease +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0018021,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0004151,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0000383,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0004151,Rare bone disease +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0003690,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0016915,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0003690,Rare bone disease +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0004151,Rare genetic disease +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0003690,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0017027,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0000391,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0013390,Rare genetic disease +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0010106,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0001044,Rare bone disease +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0002012,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0004154,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0004611,Rare bone disease +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0017931,Rare bone disease +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0000391,Rare bone disease +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0013390,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0013390,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0004156,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0015012,Rare bone disease +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0000391,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0000383,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0010082,Rare genetic disease +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0017027,Rare genetic disease +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0016915,Rare bone disease +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0010082,Rare bone disease +GARD:0004155,GARD:0022531,GARD:0019200,GARD:0004148,Rare genetic disease +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0017931,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022513,GARD:0019200,GARD:0004148,Rare developmental defect during embryogenesis +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0004611,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004155,GARD:0022511,GARD:0019200,GARD:0004154,Rare bone disease +GARD:0004155,GARD:0022536,GARD:0022063,GARD:0017027,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004156,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0004156,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0004156,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004156,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0004157,GARD:0022511,GARD:0015012,,Rare bone disease +GARD:0004157,GARD:0022536,GARD:0015012,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004157,GARD:0022531,GARD:0015012,,Rare genetic disease +GARD:0004157,GARD:0022513,GARD:0015012,,Rare developmental defect during embryogenesis +GARD:0004157,GARD:0022520,GARD:0015012,,Rare ophthalmic disorder +GARD:0004160,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0004160,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0004160,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0004160,GARD:0022531,GARD:0022109,,Rare genetic disease +GARD:0004160,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0004160,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004160,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004160,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004160,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0004160,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0004160,GARD:0022520,GARD:0022109,,Rare ophthalmic disorder +GARD:0004160,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0004163,GARD:0022527,GARD:0020464,,Rare circulatory system disease +GARD:0004163,GARD:0022513,GARD:0020464,,Rare developmental defect during embryogenesis +GARD:0004163,GARD:0022524,GARD:0019819,,Rare neurologic disease +GARD:0004166,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0004166,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0004168,GARD:0022531,GARD:0020831,,Rare genetic disease +GARD:0004168,GARD:0022513,GARD:0020831,,Rare developmental defect during embryogenesis +GARD:0004168,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0004168,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0004168,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0004169,GARD:0022524,GARD:0019832,GARD:0016503,Rare neurologic disease +GARD:0004169,GARD:0022513,GARD:0019832,GARD:0016502,Rare developmental defect during embryogenesis +GARD:0004169,GARD:0022531,GARD:0022441,GARD:0016503,Rare genetic disease +GARD:0004169,GARD:0022513,GARD:0019907,GARD:0016502,Rare developmental defect during embryogenesis +GARD:0004169,GARD:0022531,GARD:0022441,GARD:0016502,Rare genetic disease +GARD:0004169,GARD:0022513,GARD:0019907,GARD:0016503,Rare developmental defect during embryogenesis +GARD:0004169,GARD:0022531,GARD:0020301,GARD:0016502,Rare genetic disease +GARD:0004169,GARD:0022524,GARD:0019832,GARD:0016502,Rare neurologic disease +GARD:0004169,GARD:0022513,GARD:0019832,GARD:0016503,Rare developmental defect during embryogenesis +GARD:0004169,GARD:0022531,GARD:0020301,GARD:0016503,Rare genetic disease +GARD:0004170,GARD:0022511,GARD:0021572,,Rare bone disease +GARD:0004170,GARD:0022510,GARD:0019001,,Rare skin disease +GARD:0004170,GARD:0022531,GARD:0019001,,Rare genetic disease +GARD:0004170,GARD:0022531,GARD:0021726,,Rare genetic disease +GARD:0004170,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0004170,GARD:0022513,GARD:0021572,,Rare developmental defect during embryogenesis +GARD:0004170,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0004176,GARD:0022524,GARD:0021280,,Rare neurologic disease +GARD:0004176,GARD:0022531,GARD:0021280,,Rare genetic disease +GARD:0004183,GARD:0022531,GARD:0019456,,Rare genetic disease +GARD:0004183,GARD:0022522,GARD:0019456,,Rare hematologic disease +GARD:0004189,GARD:0022511,GARD:0019204,,Rare bone disease +GARD:0004189,GARD:0022531,GARD:0019204,,Rare genetic disease +GARD:0004189,GARD:0022513,GARD:0019204,,Rare developmental defect during embryogenesis +GARD:0004192,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0004192,GARD:0022535,GARD:0019407,,Rare neoplastic disease +GARD:0004192,GARD:0022514,GARD:0019407,,Rare gynecologic or obstetric disease +GARD:0004192,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0004199,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0004199,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0004199,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0004203,GARD:0022534,GARD:0019861,GARD:0015104,Rare abdominal surgical disease +GARD:0004203,GARD:0022536,GARD:0019861,GARD:0016033,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004203,GARD:0022531,GARD:0019861,GARD:0015220,Rare genetic disease +GARD:0004203,GARD:0022531,GARD:0019861,GARD:0016033,Rare genetic disease +GARD:0004203,GARD:0022513,GARD:0019861,GARD:0016033,Rare developmental defect during embryogenesis +GARD:0004203,GARD:0022513,GARD:0019861,GARD:0015220,Rare developmental defect during embryogenesis +GARD:0004203,GARD:0022536,GARD:0019861,GARD:0015104,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004203,GARD:0022534,GARD:0019861,GARD:0016033,Rare abdominal surgical disease +GARD:0004203,GARD:0022531,GARD:0019861,GARD:0015104,Rare genetic disease +GARD:0004203,GARD:0022534,GARD:0019861,GARD:0015220,Rare abdominal surgical disease +GARD:0004203,GARD:0022513,GARD:0019861,GARD:0015104,Rare developmental defect during embryogenesis +GARD:0004203,GARD:0022536,GARD:0019861,GARD:0015220,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004204,GARD:0022535,GARD:0021775,,Rare neoplastic disease +GARD:0004204,GARD:0022534,GARD:0022534,,Rare abdominal surgical disease +GARD:0004204,GARD:0022516,GARD:0021775,,Rare gastroenterologic disease +GARD:0004206,GARD:0022535,GARD:0020511,GARD:0015401,Rare neoplastic disease +GARD:0004206,GARD:0022531,GARD:0020062,GARD:0015401,Rare genetic disease +GARD:0004206,GARD:0022516,GARD:0020511,GARD:0015651,Rare gastroenterologic disease +GARD:0004206,GARD:0022535,GARD:0020511,GARD:0015788,Rare neoplastic disease +GARD:0004206,GARD:0022516,GARD:0020511,GARD:0015650,Rare gastroenterologic disease +GARD:0004206,GARD:0022535,GARD:0020511,GARD:0015650,Rare neoplastic disease +GARD:0004206,GARD:0022516,GARD:0020511,GARD:0015788,Rare gastroenterologic disease +GARD:0004206,GARD:0022531,GARD:0020062,GARD:0015651,Rare genetic disease +GARD:0004206,GARD:0022531,GARD:0020062,GARD:0015788,Rare genetic disease +GARD:0004206,GARD:0022535,GARD:0020511,GARD:0015651,Rare neoplastic disease +GARD:0004206,GARD:0022516,GARD:0020511,GARD:0015401,Rare gastroenterologic disease +GARD:0004206,GARD:0022531,GARD:0020062,GARD:0015650,Rare genetic disease +GARD:0004210,GARD:0022535,GARD:0021775,,Rare neoplastic disease +GARD:0004210,GARD:0022516,GARD:0021775,,Rare gastroenterologic disease +GARD:0004213,GARD:0022531,GARD:0006444,,Rare genetic disease +GARD:0004213,GARD:0022513,GARD:0006444,,Rare developmental defect during embryogenesis +GARD:0004213,GARD:0022511,GARD:0006444,,Rare bone disease +GARD:0004214,GARD:0022524,GARD:0020722,,Rare neurologic disease +GARD:0004214,GARD:0022535,GARD:0020722,,Rare neoplastic disease +GARD:0004219,GARD:0022531,GARD:0019926,,Rare genetic disease +GARD:0004219,GARD:0022524,GARD:0019926,,Rare neurologic disease +GARD:0004219,GARD:0022524,GARD:0019770,,Rare neurologic disease +GARD:0004219,GARD:0022531,GARD:0019770,,Rare genetic disease +GARD:0004222,GARD:0022531,GARD:0019196,,Rare genetic disease +GARD:0004222,GARD:0022513,GARD:0019196,,Rare developmental defect during embryogenesis +GARD:0004222,GARD:0022511,GARD:0019196,,Rare bone disease +GARD:0004222,GARD:0022531,GARD:0021577,,Rare genetic disease +GARD:0004223,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0004223,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0004223,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0004223,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0004223,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0004223,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0004224,GARD:0022531,GARD:0020831,GARD:0016230,Rare genetic disease +GARD:0004224,GARD:0022522,GARD:0019469,GARD:0016230,Rare hematologic disease +GARD:0004224,GARD:0022531,GARD:0019469,GARD:0016230,Rare genetic disease +GARD:0004224,GARD:0022513,GARD:0020831,GARD:0016230,Rare developmental defect during embryogenesis +GARD:0004227,GARD:0022515,GARD:0019785,GARD:0015596,Rare cardiac disease +GARD:0004227,GARD:0022531,GARD:0019785,GARD:0015596,Rare genetic disease +GARD:0004228,GARD:0022524,GARD:0020243,GARD:0003955,Rare neurologic disease +GARD:0004229,GARD:0022519,GARD:0000802,GARD:0022323,Rare surgical cardiac disease +GARD:0004229,GARD:0022519,GARD:0000802,GARD:0022324,Rare surgical cardiac disease +GARD:0004229,GARD:0022531,GARD:0000802,GARD:0022323,Rare genetic disease +GARD:0004229,GARD:0022513,GARD:0000802,GARD:0022324,Rare developmental defect during embryogenesis +GARD:0004229,GARD:0022513,GARD:0000802,GARD:0022323,Rare developmental defect during embryogenesis +GARD:0004229,GARD:0022531,GARD:0000802,GARD:0022324,Rare genetic disease +GARD:0004235,GARD:0022524,GARD:0020241,,Rare neurologic disease +GARD:0004235,GARD:0022531,GARD:0020241,,Rare genetic disease +GARD:0004235,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0004235,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0004236,GARD:0022505,GARD:0020626,,Rare teratologic disease +GARD:0004236,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0004236,GARD:0022513,GARD:0020626,,Rare developmental defect during embryogenesis +GARD:0004236,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0004236,GARD:0022509,GARD:0020626,,Rare infectious disease +GARD:0004236,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0004238,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004238,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0004238,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004238,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0004238,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004238,GARD:0022531,GARD:0021810,,Rare genetic disease +GARD:0004259,GARD:0022531,GARD:0020316,,Rare genetic disease +GARD:0004259,GARD:0022521,GARD:0021388,,Rare endocrine disease +GARD:0004260,GARD:0022531,GARD:0022030,,Rare genetic disease +GARD:0004260,GARD:0022513,GARD:0022030,,Rare developmental defect during embryogenesis +GARD:0004260,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0004260,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0004260,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0004260,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0004260,GARD:0022511,GARD:0022030,,Rare bone disease +GARD:0004260,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0004261,GARD:0022525,GARD:0018677,,Rare systemic or rheumatologic disease +GARD:0004261,GARD:0022536,GARD:0018677,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004261,GARD:0022517,GARD:0018677,,Rare respiratory disease +GARD:0004261,GARD:0021079,GARD:0018677,,Rare systemic or rheumatological disease of childhood +GARD:0004261,GARD:0022520,GARD:0021101,,Rare ophthalmic disorder +GARD:0004264,GARD:0022531,GARD:0020083,,Rare genetic disease +GARD:0004264,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0004264,GARD:0022531,GARD:0022298,,Rare genetic disease +GARD:0004264,GARD:0022513,GARD:0022298,,Rare developmental defect during embryogenesis +GARD:0004264,GARD:0022524,GARD:0020083,,Rare neurologic disease +GARD:0004264,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0004264,GARD:0022510,GARD:0022298,,Rare skin disease +GARD:0004264,GARD:0022527,GARD:0022298,,Rare circulatory system disease +GARD:0004264,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0004264,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0004265,GARD:0022531,GARD:0020280,GARD:0017292,Rare genetic disease +GARD:0004265,GARD:0022520,GARD:0021845,GARD:0021074,Rare ophthalmic disorder +GARD:0004265,GARD:0022520,GARD:0021845,GARD:0017291,Rare ophthalmic disorder +GARD:0004265,GARD:0022531,GARD:0020280,GARD:0021073,Rare genetic disease +GARD:0004265,GARD:0022524,GARD:0022440,GARD:0017291,Rare neurologic disease +GARD:0004265,GARD:0022524,GARD:0006895,GARD:0017292,Rare neurologic disease +GARD:0004265,GARD:0022531,GARD:0021845,GARD:0017291,Rare genetic disease +GARD:0004265,GARD:0022524,GARD:0020240,GARD:0021075,Rare neurologic disease +GARD:0004265,GARD:0022531,GARD:0022440,GARD:0017292,Rare genetic disease +GARD:0004265,GARD:0022520,GARD:0022115,GARD:0021074,Rare ophthalmic disorder +GARD:0004265,GARD:0022524,GARD:0020240,GARD:0021073,Rare neurologic disease +GARD:0004265,GARD:0022531,GARD:0006895,GARD:0017292,Rare genetic disease +GARD:0004265,GARD:0022531,GARD:0022150,GARD:0021075,Rare genetic disease +GARD:0004265,GARD:0022531,GARD:0022150,GARD:0021073,Rare genetic disease +GARD:0004265,GARD:0022520,GARD:0022115,GARD:0021073,Rare ophthalmic disorder +GARD:0004265,GARD:0022531,GARD:0021845,GARD:0021074,Rare genetic disease +GARD:0004265,GARD:0022520,GARD:0022115,GARD:0021075,Rare ophthalmic disorder +GARD:0004265,GARD:0022520,GARD:0022115,GARD:0017291,Rare ophthalmic disorder +GARD:0004265,GARD:0022531,GARD:0006895,GARD:0021075,Rare genetic disease +GARD:0004265,GARD:0022520,GARD:0021845,GARD:0021075,Rare ophthalmic disorder +GARD:0004265,GARD:0022524,GARD:0022440,GARD:0017292,Rare neurologic disease +GARD:0004265,GARD:0022524,GARD:0020240,GARD:0017292,Rare neurologic disease +GARD:0004265,GARD:0022531,GARD:0022150,GARD:0021074,Rare genetic disease +GARD:0004265,GARD:0022531,GARD:0022440,GARD:0017291,Rare genetic disease +GARD:0004265,GARD:0022531,GARD:0020280,GARD:0017291,Rare genetic disease +GARD:0004265,GARD:0022531,GARD:0006895,GARD:0021073,Rare genetic disease +GARD:0004265,GARD:0022524,GARD:0006895,GARD:0021075,Rare neurologic disease +GARD:0004265,GARD:0022531,GARD:0006895,GARD:0021074,Rare genetic disease +GARD:0004265,GARD:0022524,GARD:0006895,GARD:0021074,Rare neurologic disease +GARD:0004265,GARD:0022531,GARD:0020280,GARD:0021074,Rare genetic disease +GARD:0004265,GARD:0022531,GARD:0022150,GARD:0017291,Rare genetic disease +GARD:0004265,GARD:0022520,GARD:0021845,GARD:0017292,Rare ophthalmic disorder +GARD:0004265,GARD:0022520,GARD:0022115,GARD:0017292,Rare ophthalmic disorder +GARD:0004265,GARD:0022531,GARD:0006895,GARD:0017291,Rare genetic disease +GARD:0004265,GARD:0022524,GARD:0020240,GARD:0017291,Rare neurologic disease +GARD:0004265,GARD:0022531,GARD:0021845,GARD:0021073,Rare genetic disease +GARD:0004265,GARD:0022531,GARD:0022150,GARD:0017292,Rare genetic disease +GARD:0004265,GARD:0022524,GARD:0020240,GARD:0021074,Rare neurologic disease +GARD:0004265,GARD:0022531,GARD:0021845,GARD:0017292,Rare genetic disease +GARD:0004265,GARD:0022531,GARD:0022440,GARD:0021075,Rare genetic disease +GARD:0004265,GARD:0022524,GARD:0006895,GARD:0021073,Rare neurologic disease +GARD:0004265,GARD:0022524,GARD:0022440,GARD:0021074,Rare neurologic disease +GARD:0004265,GARD:0022524,GARD:0022440,GARD:0021075,Rare neurologic disease +GARD:0004265,GARD:0022531,GARD:0022440,GARD:0021074,Rare genetic disease +GARD:0004265,GARD:0022524,GARD:0006895,GARD:0017291,Rare neurologic disease +GARD:0004265,GARD:0022531,GARD:0020280,GARD:0021075,Rare genetic disease +GARD:0004265,GARD:0022524,GARD:0022440,GARD:0021073,Rare neurologic disease +GARD:0004265,GARD:0022531,GARD:0021845,GARD:0021075,Rare genetic disease +GARD:0004265,GARD:0022520,GARD:0021845,GARD:0021073,Rare ophthalmic disorder +GARD:0004265,GARD:0022531,GARD:0022440,GARD:0021073,Rare genetic disease +GARD:0004266,GARD:0022531,GARD:0012300,,Rare genetic disease +GARD:0004266,GARD:0022524,GARD:0012300,,Rare neurologic disease +GARD:0004269,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0004269,GARD:0022513,GARD:0000786,,Rare developmental defect during embryogenesis +GARD:0004269,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0004269,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0004269,GARD:0022531,GARD:0000786,,Rare genetic disease +GARD:0004270,GARD:0022510,GARD:0007355,,Rare skin disease +GARD:0004271,GARD:0022531,GARD:0020137,,Rare genetic disease +GARD:0004271,GARD:0022521,GARD:0020137,,Rare endocrine disease +GARD:0004271,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0004271,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0004271,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0004272,GARD:0022532,GARD:0008538,,Rare urogenital disease +GARD:0004272,GARD:0022521,GARD:0008538,,Rare endocrine disease +GARD:0004272,GARD:0022536,GARD:0020252,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004272,GARD:0022513,GARD:0020252,,Rare developmental defect during embryogenesis +GARD:0004272,GARD:0022513,GARD:0008538,,Rare developmental defect during embryogenesis +GARD:0004272,GARD:0022532,GARD:0020252,,Rare urogenital disease +GARD:0004273,GARD:0022513,GARD:0020252,,Rare developmental defect during embryogenesis +GARD:0004273,GARD:0022536,GARD:0020252,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004273,GARD:0022532,GARD:0020252,,Rare urogenital disease +GARD:0004276,GARD:0022531,GARD:0019017,,Rare genetic disease +GARD:0004276,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0004276,GARD:0022510,GARD:0019017,,Rare skin disease +GARD:0004276,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0004278,GARD:0022531,GARD:0016613,,Rare genetic disease +GARD:0004278,GARD:0022508,GARD:0016613,,Rare inborn errors of metabolism +GARD:0004279,GARD:0022508,GARD:0016613,,Rare inborn errors of metabolism +GARD:0004279,GARD:0022531,GARD:0016613,,Rare genetic disease +GARD:0004291,GARD:0022510,GARD:0000612,,Rare skin disease +GARD:0004291,GARD:0022531,GARD:0000612,,Rare genetic disease +GARD:0004291,GARD:0022524,GARD:0000612,,Rare neurologic disease +GARD:0004299,GARD:0022513,GARD:0019204,,Rare developmental defect during embryogenesis +GARD:0004299,GARD:0022511,GARD:0019204,,Rare bone disease +GARD:0004299,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004299,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004299,GARD:0022531,GARD:0019204,,Rare genetic disease +GARD:0004299,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004302,GARD:0022511,GARD:0000006,,Rare bone disease +GARD:0004302,GARD:0022513,GARD:0000006,,Rare developmental defect during embryogenesis +GARD:0004302,GARD:0022513,GARD:0020828,,Rare developmental defect during embryogenesis +GARD:0004302,GARD:0022531,GARD:0000006,,Rare genetic disease +GARD:0004302,GARD:0022531,GARD:0020828,,Rare genetic disease +GARD:0004303,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0004303,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004303,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004303,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0004303,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0004303,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0004303,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0004303,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0004303,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004304,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004304,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004304,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004305,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004305,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004305,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004311,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0004311,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0004311,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0004311,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0004311,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0004312,GARD:0022531,GARD:0019524,GARD:0019023,Rare genetic disease +GARD:0004312,GARD:0022510,GARD:0019004,GARD:0019024,Rare skin disease +GARD:0004312,GARD:0022513,GARD:0019431,GARD:0019025,Rare developmental defect during embryogenesis +GARD:0004312,GARD:0022531,GARD:0020270,GARD:0019025,Rare genetic disease +GARD:0004312,GARD:0022513,GARD:0019431,GARD:0019023,Rare developmental defect during embryogenesis +GARD:0004312,GARD:0022531,GARD:0019431,GARD:0019023,Rare genetic disease +GARD:0004312,GARD:0022531,GARD:0019431,GARD:0019024,Rare genetic disease +GARD:0004312,GARD:0022531,GARD:0019524,GARD:0019024,Rare genetic disease +GARD:0004312,GARD:0022513,GARD:0019431,GARD:0019024,Rare developmental defect during embryogenesis +GARD:0004312,GARD:0022520,GARD:0019524,GARD:0019025,Rare ophthalmic disorder +GARD:0004312,GARD:0022510,GARD:0019004,GARD:0019023,Rare skin disease +GARD:0004312,GARD:0022531,GARD:0020270,GARD:0019023,Rare genetic disease +GARD:0004312,GARD:0022531,GARD:0020270,GARD:0019024,Rare genetic disease +GARD:0004312,GARD:0022520,GARD:0019524,GARD:0019023,Rare ophthalmic disorder +GARD:0004312,GARD:0022531,GARD:0019524,GARD:0019025,Rare genetic disease +GARD:0004312,GARD:0022520,GARD:0019524,GARD:0019024,Rare ophthalmic disorder +GARD:0004312,GARD:0022531,GARD:0019431,GARD:0019025,Rare genetic disease +GARD:0004312,GARD:0022510,GARD:0019004,GARD:0019025,Rare skin disease +GARD:0004315,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0004315,GARD:0022533,GARD:0021594,,Rare disorder due to toxic effects +GARD:0004315,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0004315,GARD:0022505,GARD:0021594,,Rare teratologic disease +GARD:0004315,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0004315,GARD:0022513,GARD:0021594,,Rare developmental defect during embryogenesis +GARD:0004319,GARD:0022524,GARD:0007751,,Rare neurologic disease +GARD:0004319,GARD:0022531,GARD:0007751,,Rare genetic disease +GARD:0004319,GARD:0022508,GARD:0007751,,Rare inborn errors of metabolism +GARD:0004323,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0004323,GARD:0022531,GARD:0022030,,Rare genetic disease +GARD:0004323,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0004323,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0004323,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0004323,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0004323,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0004323,GARD:0022511,GARD:0022030,,Rare bone disease +GARD:0004323,GARD:0022513,GARD:0022030,,Rare developmental defect during embryogenesis +GARD:0004329,GARD:0022506,GARD:0021605,,Rare hepatic disease +GARD:0004329,GARD:0022515,GARD:0021606,,Rare cardiac disease +GARD:0004329,GARD:0022531,GARD:0021606,,Rare genetic disease +GARD:0004329,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0004329,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0004329,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0004329,GARD:0022536,GARD:0021606,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004329,GARD:0022531,GARD:0021605,,Rare genetic disease +GARD:0004329,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0004331,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0004331,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0004331,GARD:0022531,GARD:0010956,,Rare genetic disease +GARD:0004331,GARD:0022523,GARD:0010956,,Rare immune disease +GARD:0004331,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0004331,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0004337,GARD:0022524,GARD:0022440,GARD:0017682,Rare neurologic disease +GARD:0004337,GARD:0022531,GARD:0019229,GARD:0017681,Rare genetic disease +GARD:0004337,GARD:0022531,GARD:0019229,GARD:0017682,Rare genetic disease +GARD:0004337,GARD:0022524,GARD:0022440,GARD:0017681,Rare neurologic disease +GARD:0004337,GARD:0022531,GARD:0018965,GARD:0017681,Rare genetic disease +GARD:0004337,GARD:0022508,GARD:0018965,GARD:0017682,Rare inborn errors of metabolism +GARD:0004337,GARD:0022531,GARD:0022440,GARD:0017682,Rare genetic disease +GARD:0004337,GARD:0022512,GARD:0019229,GARD:0017681,Rare renal disease +GARD:0004337,GARD:0022531,GARD:0018965,GARD:0017682,Rare genetic disease +GARD:0004337,GARD:0022508,GARD:0018965,GARD:0017681,Rare inborn errors of metabolism +GARD:0004337,GARD:0022531,GARD:0022440,GARD:0017681,Rare genetic disease +GARD:0004337,GARD:0022512,GARD:0019229,GARD:0017682,Rare renal disease +GARD:0004344,GARD:0022510,GARD:0019005,,Rare skin disease +GARD:0004344,GARD:0022531,GARD:0020271,,Rare genetic disease +GARD:0004346,GARD:0022531,GARD:0020286,GARD:0019253,Rare genetic disease +GARD:0004346,GARD:0022531,GARD:0020286,GARD:0020405,Rare genetic disease +GARD:0004346,GARD:0022524,GARD:0020286,GARD:0019254,Rare neurologic disease +GARD:0004346,GARD:0022524,GARD:0020286,GARD:0020405,Rare neurologic disease +GARD:0004346,GARD:0022531,GARD:0019488,GARD:0019254,Rare genetic disease +GARD:0004346,GARD:0022531,GARD:0020286,GARD:0019252,Rare genetic disease +GARD:0004346,GARD:0022524,GARD:0020286,GARD:0019252,Rare neurologic disease +GARD:0004346,GARD:0022531,GARD:0020286,GARD:0019254,Rare genetic disease +GARD:0004346,GARD:0022531,GARD:0019488,GARD:0019253,Rare genetic disease +GARD:0004346,GARD:0022531,GARD:0019488,GARD:0019252,Rare genetic disease +GARD:0004346,GARD:0022524,GARD:0019488,GARD:0019252,Rare neurologic disease +GARD:0004346,GARD:0022524,GARD:0019488,GARD:0020405,Rare neurologic disease +GARD:0004346,GARD:0022524,GARD:0020286,GARD:0019253,Rare neurologic disease +GARD:0004346,GARD:0022524,GARD:0019488,GARD:0019253,Rare neurologic disease +GARD:0004346,GARD:0022531,GARD:0019488,GARD:0020405,Rare genetic disease +GARD:0004346,GARD:0022524,GARD:0019488,GARD:0019254,Rare neurologic disease +GARD:0004347,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0004347,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0004347,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0004347,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0004357,GARD:0022531,GARD:0022099,,Rare genetic disease +GARD:0004357,GARD:0022520,GARD:0022099,,Rare ophthalmic disorder +GARD:0004358,GARD:0022523,GARD:0021510,,Rare immune disease +GARD:0004358,GARD:0022531,GARD:0021510,,Rare genetic disease +GARD:0004359,GARD:0022531,GARD:0018997,,Rare genetic disease +GARD:0004359,GARD:0022510,GARD:0018997,,Rare skin disease +GARD:0004361,GARD:0022510,GARD:0018997,,Rare skin disease +GARD:0004361,GARD:0022531,GARD:0018997,,Rare genetic disease +GARD:0004362,GARD:0022531,GARD:0018998,,Rare genetic disease +GARD:0004362,GARD:0022510,GARD:0018998,,Rare skin disease +GARD:0004364,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0004364,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0004364,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0004365,GARD:0022531,GARD:0019521,,Rare genetic disease +GARD:0004365,GARD:0022520,GARD:0019521,,Rare ophthalmic disorder +GARD:0004369,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0004369,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0004369,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0004369,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0004369,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0004369,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0004372,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004372,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004372,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004372,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0004372,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0004375,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0004375,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004375,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004375,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0004375,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0004375,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004380,GARD:0022531,GARD:0022168,,Rare genetic disease +GARD:0004380,GARD:0022531,GARD:0021018,,Rare genetic disease +GARD:0004380,GARD:0022520,GARD:0019513,,Rare ophthalmic disorder +GARD:0004380,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0004381,GARD:0022531,GARD:0020684,,Rare genetic disease +GARD:0004381,GARD:0022531,GARD:0018873,,Rare genetic disease +GARD:0004381,GARD:0022522,GARD:0018873,,Rare hematologic disease +GARD:0004382,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0004382,GARD:0022531,GARD:0019193,,Rare genetic disease +GARD:0004382,GARD:0022513,GARD:0019193,,Rare developmental defect during embryogenesis +GARD:0004382,GARD:0022511,GARD:0019193,,Rare bone disease +GARD:0004386,GARD:0022509,GARD:0020047,,Rare infectious disease +GARD:0004391,GARD:0022510,GARD:0018992,,Rare skin disease +GARD:0004391,GARD:0022531,GARD:0020277,,Rare genetic disease +GARD:0004391,GARD:0022510,GARD:0019018,,Rare skin disease +GARD:0004391,GARD:0022531,GARD:0018992,,Rare genetic disease +GARD:0004392,GARD:0022513,GARD:0019906,GARD:0017134,Rare developmental defect during embryogenesis +GARD:0004392,GARD:0022531,GARD:0020545,GARD:0017134,Rare genetic disease +GARD:0004392,GARD:0022531,GARD:0020545,GARD:0017135,Rare genetic disease +GARD:0004392,GARD:0022531,GARD:0020277,GARD:0017135,Rare genetic disease +GARD:0004392,GARD:0022510,GARD:0020545,GARD:0017135,Rare skin disease +GARD:0004392,GARD:0022531,GARD:0019532,GARD:0017135,Rare genetic disease +GARD:0004392,GARD:0022510,GARD:0020545,GARD:0017134,Rare skin disease +GARD:0004392,GARD:0022520,GARD:0019532,GARD:0017134,Rare ophthalmic disorder +GARD:0004392,GARD:0022513,GARD:0019906,GARD:0017135,Rare developmental defect during embryogenesis +GARD:0004392,GARD:0022531,GARD:0021543,GARD:0017135,Rare genetic disease +GARD:0004392,GARD:0022531,GARD:0021543,GARD:0017134,Rare genetic disease +GARD:0004392,GARD:0022510,GARD:0019018,GARD:0017135,Rare skin disease +GARD:0004392,GARD:0022520,GARD:0019532,GARD:0017135,Rare ophthalmic disorder +GARD:0004392,GARD:0022510,GARD:0019018,GARD:0017134,Rare skin disease +GARD:0004392,GARD:0022531,GARD:0019532,GARD:0017134,Rare genetic disease +GARD:0004392,GARD:0022531,GARD:0020277,GARD:0017134,Rare genetic disease +GARD:0004410,GARD:0022513,GARD:0019211,GARD:0022028,Rare developmental defect during embryogenesis +GARD:0004410,GARD:0022511,GARD:0019211,GARD:0022028,Rare bone disease +GARD:0004410,GARD:0022531,GARD:0019211,GARD:0022027,Rare genetic disease +GARD:0004410,GARD:0022513,GARD:0019211,GARD:0022027,Rare developmental defect during embryogenesis +GARD:0004410,GARD:0022531,GARD:0019211,GARD:0022028,Rare genetic disease +GARD:0004410,GARD:0022511,GARD:0019211,GARD:0022026,Rare bone disease +GARD:0004410,GARD:0022511,GARD:0019211,GARD:0022027,Rare bone disease +GARD:0004410,GARD:0022531,GARD:0019211,GARD:0022026,Rare genetic disease +GARD:0004410,GARD:0022513,GARD:0019211,GARD:0022026,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022531,GARD:0010692,GARD:0015843,Rare genetic disease +GARD:0004412,GARD:0022513,GARD:0010692,GARD:0015843,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022507,GARD:0010692,GARD:0015999,Rare maxillo-facial surgical disease +GARD:0004412,GARD:0022528,GARD:0019145,GARD:0015265,Rare otorhinolaryngologic disease +GARD:0004412,GARD:0022524,GARD:0019832,GARD:0015999,Rare neurologic disease +GARD:0004412,GARD:0022507,GARD:0010692,GARD:0015843,Rare maxillo-facial surgical disease +GARD:0004412,GARD:0022524,GARD:0019931,GARD:0016376,Rare neurologic disease +GARD:0004412,GARD:0022524,GARD:0020999,GARD:0015843,Rare neurologic disease +GARD:0004412,GARD:0022507,GARD:0010692,GARD:0016376,Rare maxillo-facial surgical disease +GARD:0004412,GARD:0022524,GARD:0019832,GARD:0016197,Rare neurologic disease +GARD:0004412,GARD:0022513,GARD:0020999,GARD:0015999,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022524,GARD:0020999,GARD:0016197,Rare neurologic disease +GARD:0004412,GARD:0022513,GARD:0010692,GARD:0015999,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022528,GARD:0019145,GARD:0016376,Rare otorhinolaryngologic disease +GARD:0004412,GARD:0022531,GARD:0022441,GARD:0016197,Rare genetic disease +GARD:0004412,GARD:0022520,GARD:0019931,GARD:0016376,Rare ophthalmic disorder +GARD:0004412,GARD:0022528,GARD:0010692,GARD:0015843,Rare otorhinolaryngologic disease +GARD:0004412,GARD:0022513,GARD:0019145,GARD:0016376,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022531,GARD:0019931,GARD:0016376,Rare genetic disease +GARD:0004412,GARD:0022513,GARD:0019145,GARD:0015999,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022507,GARD:0010692,GARD:0016197,Rare maxillo-facial surgical disease +GARD:0004412,GARD:0022531,GARD:0022441,GARD:0015265,Rare genetic disease +GARD:0004412,GARD:0022513,GARD:0010692,GARD:0015265,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022513,GARD:0020999,GARD:0016376,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022531,GARD:0021008,GARD:0016197,Rare genetic disease +GARD:0004412,GARD:0022531,GARD:0019145,GARD:0015265,Rare genetic disease +GARD:0004412,GARD:0022513,GARD:0020999,GARD:0015843,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022528,GARD:0010692,GARD:0015999,Rare otorhinolaryngologic disease +GARD:0004412,GARD:0022513,GARD:0020999,GARD:0015265,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022531,GARD:0021008,GARD:0015999,Rare genetic disease +GARD:0004412,GARD:0022507,GARD:0010692,GARD:0015265,Rare maxillo-facial surgical disease +GARD:0004412,GARD:0022524,GARD:0019931,GARD:0015265,Rare neurologic disease +GARD:0004412,GARD:0022528,GARD:0019145,GARD:0015999,Rare otorhinolaryngologic disease +GARD:0004412,GARD:0022513,GARD:0010692,GARD:0016197,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022531,GARD:0010692,GARD:0015999,Rare genetic disease +GARD:0004412,GARD:0022531,GARD:0021008,GARD:0015843,Rare genetic disease +GARD:0004412,GARD:0022511,GARD:0010692,GARD:0015999,Rare bone disease +GARD:0004412,GARD:0022531,GARD:0021008,GARD:0015265,Rare genetic disease +GARD:0004412,GARD:0022511,GARD:0010692,GARD:0015265,Rare bone disease +GARD:0004412,GARD:0022524,GARD:0019832,GARD:0015265,Rare neurologic disease +GARD:0004412,GARD:0022524,GARD:0019931,GARD:0015843,Rare neurologic disease +GARD:0004412,GARD:0022531,GARD:0022441,GARD:0015999,Rare genetic disease +GARD:0004412,GARD:0022520,GARD:0019931,GARD:0015265,Rare ophthalmic disorder +GARD:0004412,GARD:0022531,GARD:0021008,GARD:0016376,Rare genetic disease +GARD:0004412,GARD:0022531,GARD:0019931,GARD:0015843,Rare genetic disease +GARD:0004412,GARD:0022531,GARD:0019145,GARD:0016197,Rare genetic disease +GARD:0004412,GARD:0022524,GARD:0020999,GARD:0016376,Rare neurologic disease +GARD:0004412,GARD:0022531,GARD:0019931,GARD:0016197,Rare genetic disease +GARD:0004412,GARD:0022528,GARD:0019145,GARD:0016197,Rare otorhinolaryngologic disease +GARD:0004412,GARD:0022513,GARD:0019832,GARD:0015265,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022511,GARD:0010692,GARD:0016376,Rare bone disease +GARD:0004412,GARD:0022513,GARD:0019832,GARD:0016197,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022513,GARD:0019832,GARD:0015999,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022513,GARD:0020999,GARD:0016197,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022524,GARD:0020999,GARD:0015999,Rare neurologic disease +GARD:0004412,GARD:0022531,GARD:0019145,GARD:0015843,Rare genetic disease +GARD:0004412,GARD:0022513,GARD:0019145,GARD:0015265,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022520,GARD:0019931,GARD:0015843,Rare ophthalmic disorder +GARD:0004412,GARD:0022513,GARD:0019145,GARD:0016197,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022520,GARD:0019931,GARD:0016197,Rare ophthalmic disorder +GARD:0004412,GARD:0022524,GARD:0019931,GARD:0015999,Rare neurologic disease +GARD:0004412,GARD:0022520,GARD:0019931,GARD:0015999,Rare ophthalmic disorder +GARD:0004412,GARD:0022531,GARD:0019145,GARD:0015999,Rare genetic disease +GARD:0004412,GARD:0022511,GARD:0010692,GARD:0016197,Rare bone disease +GARD:0004412,GARD:0022528,GARD:0019145,GARD:0015843,Rare otorhinolaryngologic disease +GARD:0004412,GARD:0022524,GARD:0019931,GARD:0016197,Rare neurologic disease +GARD:0004412,GARD:0022531,GARD:0019145,GARD:0016376,Rare genetic disease +GARD:0004412,GARD:0022528,GARD:0010692,GARD:0016376,Rare otorhinolaryngologic disease +GARD:0004412,GARD:0022513,GARD:0010692,GARD:0016376,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022531,GARD:0010692,GARD:0016376,Rare genetic disease +GARD:0004412,GARD:0022524,GARD:0019832,GARD:0016376,Rare neurologic disease +GARD:0004412,GARD:0022513,GARD:0019145,GARD:0015843,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022531,GARD:0022441,GARD:0016376,Rare genetic disease +GARD:0004412,GARD:0022531,GARD:0010692,GARD:0016197,Rare genetic disease +GARD:0004412,GARD:0022531,GARD:0010692,GARD:0015265,Rare genetic disease +GARD:0004412,GARD:0022528,GARD:0010692,GARD:0015265,Rare otorhinolaryngologic disease +GARD:0004412,GARD:0022524,GARD:0020999,GARD:0015265,Rare neurologic disease +GARD:0004412,GARD:0022513,GARD:0019832,GARD:0016376,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022531,GARD:0019931,GARD:0015265,Rare genetic disease +GARD:0004412,GARD:0022511,GARD:0010692,GARD:0015843,Rare bone disease +GARD:0004412,GARD:0022531,GARD:0022441,GARD:0015843,Rare genetic disease +GARD:0004412,GARD:0022524,GARD:0019832,GARD:0015843,Rare neurologic disease +GARD:0004412,GARD:0022513,GARD:0019832,GARD:0015843,Rare developmental defect during embryogenesis +GARD:0004412,GARD:0022531,GARD:0019931,GARD:0015999,Rare genetic disease +GARD:0004412,GARD:0022528,GARD:0010692,GARD:0016197,Rare otorhinolaryngologic disease +GARD:0004413,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0004413,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0004413,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0004414,GARD:0022513,GARD:0016817,,Rare developmental defect during embryogenesis +GARD:0004414,GARD:0022531,GARD:0016817,,Rare genetic disease +GARD:0004414,GARD:0022511,GARD:0016817,,Rare bone disease +GARD:0004417,GARD:0022531,GARD:0022026,,Rare genetic disease +GARD:0004417,GARD:0022513,GARD:0022026,,Rare developmental defect during embryogenesis +GARD:0004417,GARD:0022511,GARD:0022026,,Rare bone disease +GARD:0004421,GARD:0022531,GARD:0019785,GARD:0015744,Rare genetic disease +GARD:0004421,GARD:0022515,GARD:0019785,GARD:0015967,Rare cardiac disease +GARD:0004421,GARD:0022531,GARD:0019785,GARD:0015967,Rare genetic disease +GARD:0004421,GARD:0022515,GARD:0019785,GARD:0015880,Rare cardiac disease +GARD:0004421,GARD:0022531,GARD:0019785,GARD:0015880,Rare genetic disease +GARD:0004421,GARD:0022515,GARD:0019785,GARD:0015744,Rare cardiac disease +GARD:0004421,GARD:0022531,GARD:0019785,GARD:0015535,Rare genetic disease +GARD:0004421,GARD:0022515,GARD:0019785,GARD:0015535,Rare cardiac disease +GARD:0004424,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004424,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004424,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004427,GARD:0022531,GARD:0019847,,Rare genetic disease +GARD:0004427,GARD:0022516,GARD:0019847,,Rare gastroenterologic disease +GARD:0004427,GARD:0022536,GARD:0019847,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004427,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0004427,GARD:0022535,GARD:0019847,,Rare neoplastic disease +GARD:0004427,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0004428,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0004428,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0004434,GARD:0022511,GARD:0019100,,Rare bone disease +GARD:0004434,GARD:0022513,GARD:0019100,,Rare developmental defect during embryogenesis +GARD:0004434,GARD:0022531,GARD:0019100,,Rare genetic disease +GARD:0004436,GARD:0022520,GARD:0019500,GARD:0016444,Rare ophthalmic disorder +GARD:0004436,GARD:0022531,GARD:0019500,GARD:0016444,Rare genetic disease +GARD:0004436,GARD:0022513,GARD:0006317,GARD:0010570,Rare developmental defect during embryogenesis +GARD:0004436,GARD:0022507,GARD:0021189,GARD:0010570,Rare maxillo-facial surgical disease +GARD:0004436,GARD:0022513,GARD:0021189,GARD:0016444,Rare developmental defect during embryogenesis +GARD:0004436,GARD:0022528,GARD:0021189,GARD:0016444,Rare otorhinolaryngologic disease +GARD:0004436,GARD:0022513,GARD:0021189,GARD:0010570,Rare developmental defect during embryogenesis +GARD:0004436,GARD:0022507,GARD:0021189,GARD:0016444,Rare maxillo-facial surgical disease +GARD:0004436,GARD:0022513,GARD:0021925,GARD:0010570,Rare developmental defect during embryogenesis +GARD:0004436,GARD:0022531,GARD:0021189,GARD:0010570,Rare genetic disease +GARD:0004436,GARD:0022531,GARD:0006317,GARD:0016444,Rare genetic disease +GARD:0004436,GARD:0022520,GARD:0021189,GARD:0010570,Rare ophthalmic disorder +GARD:0004436,GARD:0022513,GARD:0019500,GARD:0016444,Rare developmental defect during embryogenesis +GARD:0004436,GARD:0022531,GARD:0019500,GARD:0010570,Rare genetic disease +GARD:0004436,GARD:0022510,GARD:0006317,GARD:0016444,Rare skin disease +GARD:0004436,GARD:0022510,GARD:0006317,GARD:0010570,Rare skin disease +GARD:0004436,GARD:0022513,GARD:0019500,GARD:0010570,Rare developmental defect during embryogenesis +GARD:0004436,GARD:0022531,GARD:0021189,GARD:0016444,Rare genetic disease +GARD:0004436,GARD:0022513,GARD:0006317,GARD:0016444,Rare developmental defect during embryogenesis +GARD:0004436,GARD:0022531,GARD:0021947,GARD:0016444,Rare genetic disease +GARD:0004436,GARD:0022528,GARD:0021189,GARD:0010570,Rare otorhinolaryngologic disease +GARD:0004436,GARD:0022520,GARD:0019500,GARD:0010570,Rare ophthalmic disorder +GARD:0004436,GARD:0022531,GARD:0006317,GARD:0010570,Rare genetic disease +GARD:0004436,GARD:0022520,GARD:0021189,GARD:0016444,Rare ophthalmic disorder +GARD:0004436,GARD:0022531,GARD:0021947,GARD:0010570,Rare genetic disease +GARD:0004436,GARD:0022513,GARD:0021925,GARD:0016444,Rare developmental defect during embryogenesis +GARD:0004437,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0004437,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0004438,GARD:0022531,GARD:0020264,GARD:0015108,Rare genetic disease +GARD:0004438,GARD:0022531,GARD:0020264,GARD:0009505,Rare genetic disease +GARD:0004438,GARD:0022510,GARD:0018989,GARD:0015108,Rare skin disease +GARD:0004438,GARD:0022510,GARD:0018989,GARD:0009505,Rare skin disease +GARD:0004439,GARD:0022510,GARD:0018768,,Rare skin disease +GARD:0004439,GARD:0022531,GARD:0018768,,Rare genetic disease +GARD:0004446,GARD:0022512,GARD:0010353,,Rare renal disease +GARD:0004446,GARD:0022531,GARD:0010353,,Rare genetic disease +GARD:0004446,GARD:0022510,GARD:0010353,,Rare skin disease +GARD:0004446,GARD:0022522,GARD:0019458,,Rare hematologic disease +GARD:0004446,GARD:0022531,GARD:0019458,,Rare genetic disease +GARD:0004446,GARD:0022508,GARD:0010353,,Rare inborn errors of metabolism +GARD:0004454,GARD:0022524,GARD:0019479,,Rare neurologic disease +GARD:0004457,GARD:0022520,GARD:0019549,GARD:0021066,Rare ophthalmic disorder +GARD:0004457,GARD:0022520,GARD:0019549,GARD:0019111,Rare ophthalmic disorder +GARD:0004457,GARD:0022520,GARD:0019549,GARD:0021102,Rare ophthalmic disorder +GARD:0004459,GARD:0022524,GARD:0019563,GARD:0016904,Rare neurologic disease +GARD:0004459,GARD:0022531,GARD:0020372,GARD:0016905,Rare genetic disease +GARD:0004459,GARD:0022531,GARD:0020372,GARD:0016906,Rare genetic disease +GARD:0004459,GARD:0022524,GARD:0019563,GARD:0016906,Rare neurologic disease +GARD:0004459,GARD:0022524,GARD:0020372,GARD:0016906,Rare neurologic disease +GARD:0004459,GARD:0022524,GARD:0019563,GARD:0016905,Rare neurologic disease +GARD:0004459,GARD:0022524,GARD:0020372,GARD:0016905,Rare neurologic disease +GARD:0004459,GARD:0022531,GARD:0019563,GARD:0016906,Rare genetic disease +GARD:0004459,GARD:0022531,GARD:0020372,GARD:0016904,Rare genetic disease +GARD:0004459,GARD:0022531,GARD:0019563,GARD:0016904,Rare genetic disease +GARD:0004459,GARD:0022524,GARD:0020372,GARD:0016904,Rare neurologic disease +GARD:0004459,GARD:0022531,GARD:0019563,GARD:0016905,Rare genetic disease +GARD:0004465,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0004465,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0004470,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0004470,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0004470,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0004470,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0004470,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0004470,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0004475,GARD:0022531,GARD:0020141,,Rare genetic disease +GARD:0004475,GARD:0022521,GARD:0020141,,Rare endocrine disease +GARD:0004477,GARD:0022522,GARD:0018873,,Rare hematologic disease +GARD:0004477,GARD:0022531,GARD:0018873,,Rare genetic disease +GARD:0004482,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004482,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004482,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004483,GARD:0022531,GARD:0020278,,Rare genetic disease +GARD:0004483,GARD:0022536,GARD:0021508,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004483,GARD:0022510,GARD:0019019,,Rare skin disease +GARD:0004483,GARD:0022536,GARD:0021515,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004483,GARD:0022523,GARD:0021515,,Rare immune disease +GARD:0004483,GARD:0022520,GARD:0010913,,Rare ophthalmic disorder +GARD:0004483,GARD:0022531,GARD:0010913,,Rare genetic disease +GARD:0004483,GARD:0022510,GARD:0010913,,Rare skin disease +GARD:0004483,GARD:0022531,GARD:0021508,,Rare genetic disease +GARD:0004483,GARD:0022523,GARD:0021508,,Rare immune disease +GARD:0004483,GARD:0022531,GARD:0021515,,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0001360,Rare respiratory disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015714,Rare infertility +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015968,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015940,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015974,Rare infertility +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0002982,Rare respiratory disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0016122,Rare infertility +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015972,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0016288,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0016288,Rare infertility +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015976,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0002981,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015280,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015835,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0016373,Rare infertility +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0016373,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015974,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0016383,Rare infertility +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0002982,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0016383,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015400,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015628,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015560,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0016187,Rare respiratory disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015902,Rare infertility +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0016239,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015868,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0016052,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0016288,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015835,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015546,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015558,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0016288,Rare respiratory disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015743,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015438,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0002981,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015714,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0016154,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015969,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015280,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0016187,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0016373,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015974,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015835,Rare infertility +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015974,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0016383,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015976,Rare respiratory disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015976,Rare infertility +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015574,Rare infertility +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015940,Rare infertility +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015940,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015972,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015558,Rare infertility +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0016187,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015437,Rare infertility +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015574,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015280,Rare infertility +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015502,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0016380,Rare infertility +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0016187,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015868,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015575,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0016373,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0016052,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015743,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015628,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0001361,Rare infertility +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0016025,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015280,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0001360,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0001360,Rare infertility +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0016122,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015437,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015976,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015971,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015502,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0016154,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0016373,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015968,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015972,Rare infertility +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015713,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0016154,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0002982,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015969,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015971,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015575,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015974,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0016380,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0016353,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015436,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015971,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0016187,Rare infertility +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015743,Rare infertility +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015743,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015971,Rare infertility +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015902,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015968,Rare respiratory disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015902,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0002981,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0016122,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015436,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015713,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015883,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015436,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015574,Rare respiratory disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015883,Rare infertility +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0002982,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015436,Rare infertility +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015546,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015560,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015436,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015575,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015533,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015560,Rare infertility +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0001360,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0016353,Rare infertility +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015502,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015977,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015575,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0016188,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0016052,Rare respiratory disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015868,Rare respiratory disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015714,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015976,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0016188,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015502,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015977,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0002981,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015743,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015628,Rare infertility +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015400,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0016025,Rare respiratory disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015533,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015968,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015835,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0016353,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015969,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0001361,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015713,Rare respiratory disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0016353,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015940,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015883,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015713,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0001361,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015546,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015438,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015714,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0016025,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015969,Rare infertility +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015558,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0016025,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0016025,Rare infertility +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015883,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015438,Rare infertility +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015714,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015437,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0016380,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0016052,Rare infertility +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0016188,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0016122,Rare respiratory disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015977,Rare infertility +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015713,Rare infertility +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015868,Rare infertility +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015968,Rare infertility +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015628,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0016239,Rare infertility +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015558,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0016380,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015940,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0016239,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015400,Rare infertility +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015628,Rare respiratory disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015437,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0001360,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015977,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015438,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015977,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0016052,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015400,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015883,Rare respiratory disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0002981,Rare infertility +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0016122,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015971,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0016288,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0016154,Rare infertility +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015574,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0016188,Rare infertility +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015280,Rare respiratory disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0016239,Rare respiratory disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0016188,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015438,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015560,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0016239,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0016353,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0001361,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0001361,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0002982,Rare infertility +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015558,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015902,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015533,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015437,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015546,Rare infertility +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015868,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0016383,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015546,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015835,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015533,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015574,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015972,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015575,Rare infertility +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0015560,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015400,Rare respiratory disease +GARD:0004484,GARD:0022531,GARD:0020007,GARD:0015969,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0016380,Rare genetic disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015502,Rare infertility +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0016383,Rare genetic disease +GARD:0004484,GARD:0022531,GARD:0021676,GARD:0016154,Rare genetic disease +GARD:0004484,GARD:0022517,GARD:0019793,GARD:0015972,Rare respiratory disease +GARD:0004484,GARD:0022529,GARD:0021676,GARD:0015533,Rare infertility +GARD:0004484,GARD:0022531,GARD:0019989,GARD:0015902,Rare genetic disease +GARD:0004485,GARD:0022531,GARD:0019478,,Rare genetic disease +GARD:0004485,GARD:0022524,GARD:0019478,,Rare neurologic disease +GARD:0004488,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004488,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004488,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004488,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0004488,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0004494,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0004494,GARD:0022531,GARD:0019017,,Rare genetic disease +GARD:0004494,GARD:0022510,GARD:0019017,,Rare skin disease +GARD:0004494,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0004494,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0004494,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0004497,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0004497,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0004497,GARD:0022531,GARD:0019017,,Rare genetic disease +GARD:0004497,GARD:0022510,GARD:0019017,,Rare skin disease +GARD:0004500,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0004503,GARD:0022531,GARD:0022158,GARD:0016479,Rare genetic disease +GARD:0004503,GARD:0022520,GARD:0022118,GARD:0001191,Rare ophthalmic disorder +GARD:0004503,GARD:0022520,GARD:0022118,GARD:0016486,Rare ophthalmic disorder +GARD:0004503,GARD:0022531,GARD:0022158,GARD:0016486,Rare genetic disease +GARD:0004503,GARD:0022531,GARD:0022158,GARD:0001191,Rare genetic disease +GARD:0004503,GARD:0022520,GARD:0022118,GARD:0016479,Rare ophthalmic disorder +GARD:0004504,GARD:0022531,GARD:0016792,,Rare genetic disease +GARD:0004504,GARD:0022528,GARD:0016792,,Rare otorhinolaryngologic disease +GARD:0004504,GARD:0022508,GARD:0016792,,Rare inborn errors of metabolism +GARD:0004507,GARD:0022520,GARD:0007471,GARD:0020648,Rare ophthalmic disorder +GARD:0004507,GARD:0022520,GARD:0007471,GARD:0020649,Rare ophthalmic disorder +GARD:0004507,GARD:0022531,GARD:0007471,GARD:0020647,Rare genetic disease +GARD:0004507,GARD:0022531,GARD:0007471,GARD:0020648,Rare genetic disease +GARD:0004507,GARD:0022520,GARD:0007471,GARD:0020647,Rare ophthalmic disorder +GARD:0004507,GARD:0022524,GARD:0007471,GARD:0020647,Rare neurologic disease +GARD:0004507,GARD:0022531,GARD:0007471,GARD:0017183,Rare genetic disease +GARD:0004507,GARD:0022520,GARD:0007471,GARD:0017183,Rare ophthalmic disorder +GARD:0004507,GARD:0022524,GARD:0007471,GARD:0017183,Rare neurologic disease +GARD:0004507,GARD:0022524,GARD:0007471,GARD:0020649,Rare neurologic disease +GARD:0004507,GARD:0022524,GARD:0007471,GARD:0020648,Rare neurologic disease +GARD:0004507,GARD:0022531,GARD:0007471,GARD:0020649,Rare genetic disease +GARD:0004508,GARD:0022521,GARD:0021389,,Rare endocrine disease +GARD:0004508,GARD:0022529,GARD:0021678,,Rare infertility +GARD:0004508,GARD:0022535,GARD:0021389,,Rare neoplastic disease +GARD:0004508,GARD:0022529,GARD:0021670,,Rare infertility +GARD:0004509,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0004509,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0004513,GARD:0022523,GARD:0021920,,Rare immune disease +GARD:0004513,GARD:0022531,GARD:0021920,,Rare genetic disease +GARD:0004518,GARD:0022531,GARD:0020978,,Rare genetic disease +GARD:0004518,GARD:0022513,GARD:0020978,,Rare developmental defect during embryogenesis +GARD:0004518,GARD:0022524,GARD:0020978,,Rare neurologic disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015440,Rare genetic disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015538,Rare urogenital disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015334,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015253,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015478,Rare genetic disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015439,Rare neoplastic disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015537,Rare urogenital disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015537,Rare neoplastic disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015351,Rare urogenital disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015536,Rare genetic disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015505,Rare neoplastic disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015260,Rare urogenital disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015536,Rare neoplastic disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015357,Rare genetic disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015455,Rare neoplastic disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015334,Rare urogenital disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015529,Rare genetic disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015529,Rare neoplastic disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015507,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015839,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015260,Rare genetic disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015439,Rare urogenital disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015455,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015462,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015462,Rare genetic disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015455,Rare urogenital disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015534,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015529,Rare genetic disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015260,Rare neoplastic disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015507,Rare genetic disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015478,Rare urogenital disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015507,Rare neoplastic disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015538,Rare neoplastic disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015537,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015505,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015538,Rare genetic disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015357,Rare neoplastic disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015334,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015536,Rare genetic disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015534,Rare urogenital disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015839,Rare urogenital disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015351,Rare neoplastic disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015253,Rare neoplastic disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015505,Rare urogenital disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015462,Rare neoplastic disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015357,Rare urogenital disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015440,Rare urogenital disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015839,Rare genetic disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015253,Rare urogenital disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015478,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015351,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015538,Rare genetic disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015462,Rare urogenital disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015439,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015351,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015505,Rare genetic disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015839,Rare neoplastic disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015478,Rare neoplastic disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015534,Rare neoplastic disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015439,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015537,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015455,Rare genetic disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015529,Rare urogenital disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015507,Rare urogenital disease +GARD:0004520,GARD:0022532,GARD:0019402,GARD:0015536,Rare urogenital disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015334,Rare neoplastic disease +GARD:0004520,GARD:0022535,GARD:0019402,GARD:0015440,Rare neoplastic disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015357,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015440,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015253,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0020008,GARD:0015260,Rare genetic disease +GARD:0004520,GARD:0022531,GARD:0021014,GARD:0015534,Rare genetic disease +GARD:0004522,GARD:0022531,GARD:0018951,,Rare genetic disease +GARD:0004522,GARD:0022508,GARD:0018951,,Rare inborn errors of metabolism +GARD:0004527,GARD:0022510,GARD:0010353,,Rare skin disease +GARD:0004527,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0004527,GARD:0022508,GARD:0010353,,Rare inborn errors of metabolism +GARD:0004527,GARD:0022512,GARD:0010353,,Rare renal disease +GARD:0004527,GARD:0022531,GARD:0010353,,Rare genetic disease +GARD:0004527,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0004528,GARD:0022513,GARD:0021753,,Rare developmental defect during embryogenesis +GARD:0004528,GARD:0022532,GARD:0021753,,Rare urogenital disease +GARD:0004528,GARD:0022531,GARD:0021753,,Rare genetic disease +GARD:0004528,GARD:0022524,GARD:0021753,,Rare neurologic disease +GARD:0004531,GARD:0022524,GARD:0019478,GARD:0007883,Rare neurologic disease +GARD:0004531,GARD:0022531,GARD:0019478,GARD:0004945,Rare genetic disease +GARD:0004531,GARD:0022531,GARD:0019478,GARD:0000198,Rare genetic disease +GARD:0004531,GARD:0022531,GARD:0019478,GARD:0000564,Rare genetic disease +GARD:0004531,GARD:0022531,GARD:0019478,GARD:0007883,Rare genetic disease +GARD:0004531,GARD:0022524,GARD:0019478,GARD:0000564,Rare neurologic disease +GARD:0004531,GARD:0022524,GARD:0019478,GARD:0000198,Rare neurologic disease +GARD:0004531,GARD:0022524,GARD:0019478,GARD:0004945,Rare neurologic disease +GARD:0004536,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0004539,GARD:0022536,GARD:0012470,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004539,GARD:0022508,GARD:0012470,,Rare inborn errors of metabolism +GARD:0004539,GARD:0022531,GARD:0012470,,Rare genetic disease +GARD:0004540,GARD:0022513,GARD:0019191,,Rare developmental defect during embryogenesis +GARD:0004540,GARD:0022531,GARD:0019191,,Rare genetic disease +GARD:0004540,GARD:0022511,GARD:0019191,,Rare bone disease +GARD:0004543,GARD:0022531,GARD:0012470,,Rare genetic disease +GARD:0004543,GARD:0022531,GARD:0020551,,Rare genetic disease +GARD:0004543,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0004543,GARD:0022508,GARD:0012470,,Rare inborn errors of metabolism +GARD:0004543,GARD:0022524,GARD:0020551,,Rare neurologic disease +GARD:0004543,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0004543,GARD:0022536,GARD:0012470,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004544,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004544,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004544,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004550,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0004550,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0004550,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0004550,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004550,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004550,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0004550,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0004550,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004550,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0004552,GARD:0022531,GARD:0016545,,Rare genetic disease +GARD:0004552,GARD:0022512,GARD:0016545,,Rare renal disease +GARD:0004553,GARD:0022531,GARD:0020010,GARD:0016777,Rare genetic disease +GARD:0004553,GARD:0022536,GARD:0022061,GARD:0016775,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004553,GARD:0022512,GARD:0021861,GARD:0016776,Rare renal disease +GARD:0004553,GARD:0022531,GARD:0020010,GARD:0017372,Rare genetic disease +GARD:0004553,GARD:0022512,GARD:0020010,GARD:0016776,Rare renal disease +GARD:0004553,GARD:0022527,GARD:0020010,GARD:0016776,Rare circulatory system disease +GARD:0004553,GARD:0022527,GARD:0020010,GARD:0016777,Rare circulatory system disease +GARD:0004553,GARD:0022512,GARD:0020010,GARD:0016775,Rare renal disease +GARD:0004553,GARD:0022512,GARD:0020010,GARD:0017372,Rare renal disease +GARD:0004553,GARD:0022531,GARD:0020010,GARD:0017373,Rare genetic disease +GARD:0004553,GARD:0022527,GARD:0020010,GARD:0017373,Rare circulatory system disease +GARD:0004553,GARD:0022536,GARD:0022061,GARD:0016776,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004553,GARD:0022531,GARD:0020010,GARD:0016776,Rare genetic disease +GARD:0004553,GARD:0022536,GARD:0022061,GARD:0017373,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004553,GARD:0022536,GARD:0022061,GARD:0017372,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004553,GARD:0022536,GARD:0022061,GARD:0016777,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004553,GARD:0022512,GARD:0021861,GARD:0016777,Rare renal disease +GARD:0004553,GARD:0022512,GARD:0020010,GARD:0017373,Rare renal disease +GARD:0004553,GARD:0022531,GARD:0020010,GARD:0016775,Rare genetic disease +GARD:0004553,GARD:0022512,GARD:0021861,GARD:0017372,Rare renal disease +GARD:0004553,GARD:0022512,GARD:0020010,GARD:0016777,Rare renal disease +GARD:0004553,GARD:0022512,GARD:0021861,GARD:0017373,Rare renal disease +GARD:0004553,GARD:0022527,GARD:0020010,GARD:0017372,Rare circulatory system disease +GARD:0004553,GARD:0022512,GARD:0021861,GARD:0016775,Rare renal disease +GARD:0004553,GARD:0022527,GARD:0020010,GARD:0016775,Rare circulatory system disease +GARD:0004559,GARD:0022531,GARD:0022114,,Rare genetic disease +GARD:0004559,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0004559,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0004559,GARD:0022520,GARD:0022114,,Rare ophthalmic disorder +GARD:0004559,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0004561,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0004568,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004568,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004568,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004569,GARD:0022520,GARD:0019513,,Rare ophthalmic disorder +GARD:0004570,GARD:0022510,GARD:0019010,,Rare skin disease +GARD:0004570,GARD:0022531,GARD:0021970,,Rare genetic disease +GARD:0004573,GARD:0022513,GARD:0021177,,Rare developmental defect during embryogenesis +GARD:0004573,GARD:0022531,GARD:0021177,,Rare genetic disease +GARD:0004577,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0004577,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0004577,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0004577,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0004577,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0004577,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0004577,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0004582,GARD:0022517,GARD:0019746,GARD:0015793,Rare respiratory disease +GARD:0004582,GARD:0022531,GARD:0019808,GARD:0015263,Rare genetic disease +GARD:0004582,GARD:0022531,GARD:0019808,GARD:0015793,Rare genetic disease +GARD:0004582,GARD:0022523,GARD:0019808,GARD:0015263,Rare immune disease +GARD:0004582,GARD:0022536,GARD:0019746,GARD:0015263,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004582,GARD:0022531,GARD:0019746,GARD:0015793,Rare genetic disease +GARD:0004582,GARD:0022517,GARD:0019746,GARD:0015263,Rare respiratory disease +GARD:0004582,GARD:0022536,GARD:0019746,GARD:0015793,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004582,GARD:0022523,GARD:0019808,GARD:0015793,Rare immune disease +GARD:0004582,GARD:0022531,GARD:0019746,GARD:0015263,Rare genetic disease +GARD:0004584,GARD:0022527,GARD:0020464,,Rare circulatory system disease +GARD:0004584,GARD:0022513,GARD:0019867,,Rare developmental defect during embryogenesis +GARD:0004584,GARD:0022513,GARD:0020464,,Rare developmental defect during embryogenesis +GARD:0004584,GARD:0022518,GARD:0019867,,Rare surgical thoracic disease +GARD:0004584,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0004586,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0004586,GARD:0022519,GARD:0018717,,Rare surgical cardiac disease +GARD:0004586,GARD:0022513,GARD:0018717,,Rare developmental defect during embryogenesis +GARD:0004588,GARD:0022513,GARD:0008189,,Rare developmental defect during embryogenesis +GARD:0004588,GARD:0022519,GARD:0008189,,Rare surgical cardiac disease +GARD:0004589,GARD:0022519,GARD:0019553,,Rare surgical cardiac disease +GARD:0004589,GARD:0022513,GARD:0019553,,Rare developmental defect during embryogenesis +GARD:0004589,GARD:0022527,GARD:0019553,,Rare circulatory system disease +GARD:0004593,GARD:0022513,GARD:0019867,GARD:0021091,Rare developmental defect during embryogenesis +GARD:0004593,GARD:0022517,GARD:0020249,GARD:0021090,Rare respiratory disease +GARD:0004593,GARD:0022513,GARD:0019867,GARD:0021092,Rare developmental defect during embryogenesis +GARD:0004593,GARD:0022518,GARD:0019867,GARD:0021090,Rare surgical thoracic disease +GARD:0004593,GARD:0022517,GARD:0020249,GARD:0021092,Rare respiratory disease +GARD:0004593,GARD:0022517,GARD:0020249,GARD:0021091,Rare respiratory disease +GARD:0004593,GARD:0022513,GARD:0019867,GARD:0021090,Rare developmental defect during embryogenesis +GARD:0004593,GARD:0022518,GARD:0019867,GARD:0021092,Rare surgical thoracic disease +GARD:0004593,GARD:0022518,GARD:0019867,GARD:0021091,Rare surgical thoracic disease +GARD:0004594,GARD:0022513,GARD:0016623,,Rare developmental defect during embryogenesis +GARD:0004594,GARD:0022519,GARD:0016623,,Rare surgical cardiac disease +GARD:0004594,GARD:0022527,GARD:0016623,,Rare circulatory system disease +GARD:0004597,GARD:0022519,GARD:0019553,GARD:0019618,Rare surgical cardiac disease +GARD:0004597,GARD:0022513,GARD:0019553,GARD:0019780,Rare developmental defect during embryogenesis +GARD:0004597,GARD:0022513,GARD:0008189,GARD:0019618,Rare developmental defect during embryogenesis +GARD:0004597,GARD:0022527,GARD:0019553,GARD:0019618,Rare circulatory system disease +GARD:0004597,GARD:0022519,GARD:0008189,GARD:0019618,Rare surgical cardiac disease +GARD:0004597,GARD:0022513,GARD:0019553,GARD:0019618,Rare developmental defect during embryogenesis +GARD:0004597,GARD:0022519,GARD:0008189,GARD:0019780,Rare surgical cardiac disease +GARD:0004597,GARD:0022527,GARD:0019553,GARD:0019780,Rare circulatory system disease +GARD:0004597,GARD:0022519,GARD:0019553,GARD:0019780,Rare surgical cardiac disease +GARD:0004597,GARD:0022513,GARD:0008189,GARD:0019780,Rare developmental defect during embryogenesis +GARD:0004598,GARD:0022536,GARD:0022064,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004598,GARD:0022513,GARD:0019556,,Rare developmental defect during embryogenesis +GARD:0004598,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0004598,GARD:0022519,GARD:0019556,,Rare surgical cardiac disease +GARD:0004598,GARD:0022527,GARD:0019556,,Rare circulatory system disease +GARD:0004599,GARD:0022513,GARD:0019559,GARD:0019665,Rare developmental defect during embryogenesis +GARD:0004599,GARD:0022519,GARD:0019559,GARD:0016896,Rare surgical cardiac disease +GARD:0004599,GARD:0022519,GARD:0019559,GARD:0019665,Rare surgical cardiac disease +GARD:0004599,GARD:0022513,GARD:0019559,GARD:0016896,Rare developmental defect during embryogenesis +GARD:0004599,GARD:0022527,GARD:0019559,GARD:0016896,Rare circulatory system disease +GARD:0004599,GARD:0022527,GARD:0019559,GARD:0019665,Rare circulatory system disease +GARD:0004600,GARD:0022513,GARD:0002922,,Rare developmental defect during embryogenesis +GARD:0004600,GARD:0022513,GARD:0019553,,Rare developmental defect during embryogenesis +GARD:0004600,GARD:0022519,GARD:0019553,,Rare surgical cardiac disease +GARD:0004600,GARD:0022527,GARD:0019553,,Rare circulatory system disease +GARD:0004600,GARD:0022519,GARD:0002922,,Rare surgical cardiac disease +GARD:0004603,GARD:0022531,GARD:0020263,,Rare genetic disease +GARD:0004603,GARD:0022510,GARD:0018987,,Rare skin disease +GARD:0004606,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0004606,GARD:0022531,GARD:0018965,,Rare genetic disease +GARD:0004606,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0004606,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004606,GARD:0022508,GARD:0018965,,Rare inborn errors of metabolism +GARD:0004606,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0004606,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0004607,GARD:0022522,GARD:0016659,,Rare hematologic disease +GARD:0004607,GARD:0022512,GARD:0016659,,Rare renal disease +GARD:0004607,GARD:0022536,GARD:0016659,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004610,GARD:0022531,GARD:0019215,,Rare genetic disease +GARD:0004610,GARD:0022513,GARD:0019215,,Rare developmental defect during embryogenesis +GARD:0004610,GARD:0022511,GARD:0019215,,Rare bone disease +GARD:0004611,GARD:0022508,GARD:0018884,,Rare inborn errors of metabolism +GARD:0004611,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0004611,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004611,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0004611,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0004611,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0004611,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0004611,GARD:0022531,GARD:0018884,,Rare genetic disease +GARD:0004611,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0004612,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0004612,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0004612,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0004614,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0004614,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0004620,GARD:0022524,GARD:0007513,,Rare neurologic disease +GARD:0004620,GARD:0022508,GARD:0007513,,Rare inborn errors of metabolism +GARD:0004620,GARD:0022531,GARD:0007513,,Rare genetic disease +GARD:0004627,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0004627,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0004627,GARD:0022531,GARD:0021810,,Rare genetic disease +GARD:0004627,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0004627,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0004628,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004628,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0004628,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0004628,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0004628,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0004628,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004628,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0004628,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0004628,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0004628,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0004628,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0004628,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0004628,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004633,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0004633,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0004633,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0004634,GARD:0022531,GARD:0016616,,Rare genetic disease +GARD:0004634,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0004634,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0004634,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0004634,GARD:0022523,GARD:0016616,,Rare immune disease +GARD:0004634,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0004634,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0004634,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0004634,GARD:0022520,GARD:0016616,,Rare ophthalmic disorder +GARD:0004635,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0004636,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0004636,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0004636,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0004636,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004636,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004636,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0004636,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004636,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0004637,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0004637,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0004637,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0004637,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0004637,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0004637,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0004637,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0004637,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0004637,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0004638,GARD:0022513,GARD:0021572,,Rare developmental defect during embryogenesis +GARD:0004638,GARD:0022528,GARD:0019999,,Rare otorhinolaryngologic disease +GARD:0004638,GARD:0022531,GARD:0021726,,Rare genetic disease +GARD:0004638,GARD:0022513,GARD:0019999,,Rare developmental defect during embryogenesis +GARD:0004638,GARD:0022531,GARD:0019999,,Rare genetic disease +GARD:0004638,GARD:0022511,GARD:0021572,,Rare bone disease +GARD:0004638,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0004638,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0004641,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0004641,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0004641,GARD:0022531,GARD:0021114,,Rare genetic disease +GARD:0004641,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0004641,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004641,GARD:0022510,GARD:0021114,,Rare skin disease +GARD:0004641,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004641,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004641,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0004641,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004641,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0004644,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0004644,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0004644,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0004644,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0004644,GARD:0022531,GARD:0020665,,Rare genetic disease +GARD:0004644,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0004644,GARD:0022524,GARD:0020665,,Rare neurologic disease +GARD:0004644,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0004644,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0004647,GARD:0022524,GARD:0022524,GARD:0016928,Rare neurologic disease +GARD:0004647,GARD:0022524,GARD:0022524,GARD:0019727,Rare neurologic disease +GARD:0004648,GARD:0022520,GARD:0011890,GARD:0015226,Rare ophthalmic disorder +GARD:0004648,GARD:0022524,GARD:0019413,GARD:0015875,Rare neurologic disease +GARD:0004648,GARD:0022531,GARD:0019900,GARD:0015865,Rare genetic disease +GARD:0004648,GARD:0022531,GARD:0019900,GARD:0015862,Rare genetic disease +GARD:0004648,GARD:0022524,GARD:0020551,GARD:0015865,Rare neurologic disease +GARD:0004648,GARD:0022524,GARD:0020551,GARD:0015867,Rare neurologic disease +GARD:0004648,GARD:0022520,GARD:0011890,GARD:0015865,Rare ophthalmic disorder +GARD:0004648,GARD:0022506,GARD:0011890,GARD:0015875,Rare hepatic disease +GARD:0004648,GARD:0022524,GARD:0019413,GARD:0015134,Rare neurologic disease +GARD:0004648,GARD:0022531,GARD:0019413,GARD:0015860,Rare genetic disease +GARD:0004648,GARD:0022531,GARD:0020551,GARD:0015881,Rare genetic disease +GARD:0004648,GARD:0022513,GARD:0019900,GARD:0015881,Rare developmental defect during embryogenesis +GARD:0004648,GARD:0022531,GARD:0011890,GARD:0015875,Rare genetic disease +GARD:0004648,GARD:0022531,GARD:0011890,GARD:0015134,Rare genetic disease +GARD:0004648,GARD:0022531,GARD:0020551,GARD:0015865,Rare genetic disease +GARD:0004648,GARD:0022508,GARD:0011890,GARD:0015862,Rare inborn errors of metabolism +GARD:0004648,GARD:0022531,GARD:0019413,GARD:0015226,Rare genetic disease +GARD:0004648,GARD:0022524,GARD:0011890,GARD:0015860,Rare neurologic disease +GARD:0004648,GARD:0022531,GARD:0019900,GARD:0015875,Rare genetic disease +GARD:0004648,GARD:0022513,GARD:0019900,GARD:0015862,Rare developmental defect during embryogenesis +GARD:0004648,GARD:0022531,GARD:0011890,GARD:0015867,Rare genetic disease +GARD:0004648,GARD:0022531,GARD:0011890,GARD:0015860,Rare genetic disease +GARD:0004648,GARD:0022506,GARD:0011890,GARD:0015860,Rare hepatic disease +GARD:0004648,GARD:0022520,GARD:0011890,GARD:0015860,Rare ophthalmic disorder +GARD:0004648,GARD:0022531,GARD:0019900,GARD:0015226,Rare genetic disease +GARD:0004648,GARD:0022531,GARD:0011890,GARD:0015226,Rare genetic disease +GARD:0004648,GARD:0022524,GARD:0019413,GARD:0015865,Rare neurologic disease +GARD:0004648,GARD:0022531,GARD:0019413,GARD:0015862,Rare genetic disease +GARD:0004648,GARD:0022506,GARD:0011890,GARD:0015226,Rare hepatic disease +GARD:0004648,GARD:0022508,GARD:0011890,GARD:0015865,Rare inborn errors of metabolism +GARD:0004648,GARD:0022524,GARD:0020551,GARD:0015881,Rare neurologic disease +GARD:0004648,GARD:0022524,GARD:0011890,GARD:0015134,Rare neurologic disease +GARD:0004648,GARD:0022531,GARD:0019900,GARD:0015870,Rare genetic disease +GARD:0004648,GARD:0022531,GARD:0019413,GARD:0015867,Rare genetic disease +GARD:0004648,GARD:0022524,GARD:0019413,GARD:0015862,Rare neurologic disease +GARD:0004648,GARD:0022508,GARD:0011890,GARD:0015870,Rare inborn errors of metabolism +GARD:0004648,GARD:0022520,GARD:0011890,GARD:0015881,Rare ophthalmic disorder +GARD:0004648,GARD:0022531,GARD:0011890,GARD:0015881,Rare genetic disease +GARD:0004648,GARD:0022531,GARD:0020551,GARD:0015867,Rare genetic disease +GARD:0004648,GARD:0022531,GARD:0019900,GARD:0015867,Rare genetic disease +GARD:0004648,GARD:0022531,GARD:0020551,GARD:0015134,Rare genetic disease +GARD:0004648,GARD:0022524,GARD:0011890,GARD:0015867,Rare neurologic disease +GARD:0004648,GARD:0022531,GARD:0011890,GARD:0015870,Rare genetic disease +GARD:0004648,GARD:0022531,GARD:0019900,GARD:0015860,Rare genetic disease +GARD:0004648,GARD:0022508,GARD:0011890,GARD:0015875,Rare inborn errors of metabolism +GARD:0004648,GARD:0022531,GARD:0020551,GARD:0015870,Rare genetic disease +GARD:0004648,GARD:0022531,GARD:0020551,GARD:0015875,Rare genetic disease +GARD:0004648,GARD:0022506,GARD:0011890,GARD:0015870,Rare hepatic disease +GARD:0004648,GARD:0022531,GARD:0019413,GARD:0015881,Rare genetic disease +GARD:0004648,GARD:0022524,GARD:0020551,GARD:0015870,Rare neurologic disease +GARD:0004648,GARD:0022513,GARD:0019900,GARD:0015875,Rare developmental defect during embryogenesis +GARD:0004648,GARD:0022508,GARD:0011890,GARD:0015226,Rare inborn errors of metabolism +GARD:0004648,GARD:0022524,GARD:0011890,GARD:0015226,Rare neurologic disease +GARD:0004648,GARD:0022531,GARD:0020551,GARD:0015860,Rare genetic disease +GARD:0004648,GARD:0022524,GARD:0019413,GARD:0015860,Rare neurologic disease +GARD:0004648,GARD:0022531,GARD:0019413,GARD:0015865,Rare genetic disease +GARD:0004648,GARD:0022520,GARD:0011890,GARD:0015875,Rare ophthalmic disorder +GARD:0004648,GARD:0022524,GARD:0020551,GARD:0015134,Rare neurologic disease +GARD:0004648,GARD:0022506,GARD:0011890,GARD:0015867,Rare hepatic disease +GARD:0004648,GARD:0022520,GARD:0011890,GARD:0015134,Rare ophthalmic disorder +GARD:0004648,GARD:0022531,GARD:0020551,GARD:0015862,Rare genetic disease +GARD:0004648,GARD:0022531,GARD:0011890,GARD:0015865,Rare genetic disease +GARD:0004648,GARD:0022524,GARD:0011890,GARD:0015881,Rare neurologic disease +GARD:0004648,GARD:0022524,GARD:0011890,GARD:0015862,Rare neurologic disease +GARD:0004648,GARD:0022513,GARD:0019900,GARD:0015865,Rare developmental defect during embryogenesis +GARD:0004648,GARD:0022513,GARD:0019900,GARD:0015134,Rare developmental defect during embryogenesis +GARD:0004648,GARD:0022520,GARD:0011890,GARD:0015862,Rare ophthalmic disorder +GARD:0004648,GARD:0022531,GARD:0019413,GARD:0015134,Rare genetic disease +GARD:0004648,GARD:0022506,GARD:0011890,GARD:0015881,Rare hepatic disease +GARD:0004648,GARD:0022524,GARD:0011890,GARD:0015870,Rare neurologic disease +GARD:0004648,GARD:0022508,GARD:0011890,GARD:0015881,Rare inborn errors of metabolism +GARD:0004648,GARD:0022524,GARD:0020551,GARD:0015875,Rare neurologic disease +GARD:0004648,GARD:0022531,GARD:0019900,GARD:0015134,Rare genetic disease +GARD:0004648,GARD:0022513,GARD:0019900,GARD:0015860,Rare developmental defect during embryogenesis +GARD:0004648,GARD:0022524,GARD:0019413,GARD:0015870,Rare neurologic disease +GARD:0004648,GARD:0022520,GARD:0011890,GARD:0015867,Rare ophthalmic disorder +GARD:0004648,GARD:0022520,GARD:0011890,GARD:0015870,Rare ophthalmic disorder +GARD:0004648,GARD:0022524,GARD:0020551,GARD:0015226,Rare neurologic disease +GARD:0004648,GARD:0022508,GARD:0011890,GARD:0015134,Rare inborn errors of metabolism +GARD:0004648,GARD:0022508,GARD:0011890,GARD:0015867,Rare inborn errors of metabolism +GARD:0004648,GARD:0022531,GARD:0011890,GARD:0015862,Rare genetic disease +GARD:0004648,GARD:0022513,GARD:0019900,GARD:0015226,Rare developmental defect during embryogenesis +GARD:0004648,GARD:0022508,GARD:0011890,GARD:0015860,Rare inborn errors of metabolism +GARD:0004648,GARD:0022513,GARD:0019900,GARD:0015870,Rare developmental defect during embryogenesis +GARD:0004648,GARD:0022506,GARD:0011890,GARD:0015862,Rare hepatic disease +GARD:0004648,GARD:0022524,GARD:0019413,GARD:0015226,Rare neurologic disease +GARD:0004648,GARD:0022506,GARD:0011890,GARD:0015134,Rare hepatic disease +GARD:0004648,GARD:0022531,GARD:0020551,GARD:0015226,Rare genetic disease +GARD:0004648,GARD:0022524,GARD:0020551,GARD:0015862,Rare neurologic disease +GARD:0004648,GARD:0022531,GARD:0019413,GARD:0015875,Rare genetic disease +GARD:0004648,GARD:0022506,GARD:0011890,GARD:0015865,Rare hepatic disease +GARD:0004648,GARD:0022524,GARD:0020551,GARD:0015860,Rare neurologic disease +GARD:0004648,GARD:0022513,GARD:0019900,GARD:0015867,Rare developmental defect during embryogenesis +GARD:0004648,GARD:0022524,GARD:0011890,GARD:0015865,Rare neurologic disease +GARD:0004648,GARD:0022524,GARD:0019413,GARD:0015881,Rare neurologic disease +GARD:0004648,GARD:0022524,GARD:0011890,GARD:0015875,Rare neurologic disease +GARD:0004648,GARD:0022524,GARD:0019413,GARD:0015867,Rare neurologic disease +GARD:0004648,GARD:0022531,GARD:0019900,GARD:0015881,Rare genetic disease +GARD:0004648,GARD:0022531,GARD:0019413,GARD:0015870,Rare genetic disease +GARD:0004655,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0004655,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0004655,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0004655,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0004655,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004655,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0004665,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0004665,GARD:0022524,GARD:0021002,,Rare neurologic disease +GARD:0004665,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0004665,GARD:0022531,GARD:0019992,,Rare genetic disease +GARD:0004665,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004665,GARD:0022531,GARD:0021009,,Rare genetic disease +GARD:0004665,GARD:0022513,GARD:0021002,,Rare developmental defect during embryogenesis +GARD:0004665,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0004665,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0004665,GARD:0022531,GARD:0020005,,Rare genetic disease +GARD:0004666,GARD:0022528,GARD:0019145,GARD:0015229,Rare otorhinolaryngologic disease +GARD:0004666,GARD:0022531,GARD:0019145,GARD:0015229,Rare genetic disease +GARD:0004666,GARD:0022536,GARD:0004667,GARD:0015229,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004666,GARD:0022531,GARD:0019145,GARD:0015350,Rare genetic disease +GARD:0004666,GARD:0022512,GARD:0004667,GARD:0015350,Rare renal disease +GARD:0004666,GARD:0022512,GARD:0004667,GARD:0015229,Rare renal disease +GARD:0004666,GARD:0022531,GARD:0004667,GARD:0015229,Rare genetic disease +GARD:0004666,GARD:0022513,GARD:0019145,GARD:0015229,Rare developmental defect during embryogenesis +GARD:0004666,GARD:0022536,GARD:0004667,GARD:0015350,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004666,GARD:0022528,GARD:0019145,GARD:0015350,Rare otorhinolaryngologic disease +GARD:0004666,GARD:0022513,GARD:0019145,GARD:0015350,Rare developmental defect during embryogenesis +GARD:0004666,GARD:0022531,GARD:0004667,GARD:0015350,Rare genetic disease +GARD:0004667,GARD:0022531,GARD:0007552,GARD:0012354,Rare genetic disease +GARD:0004667,GARD:0022536,GARD:0022061,GARD:0004666,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004667,GARD:0022531,GARD:0007552,GARD:0004668,Rare genetic disease +GARD:0004667,GARD:0022512,GARD:0007552,GARD:0004666,Rare renal disease +GARD:0004667,GARD:0022512,GARD:0007552,GARD:0004668,Rare renal disease +GARD:0004667,GARD:0022512,GARD:0007552,GARD:0012354,Rare renal disease +GARD:0004667,GARD:0022531,GARD:0007552,GARD:0004666,Rare genetic disease +GARD:0004667,GARD:0022536,GARD:0022061,GARD:0004668,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004667,GARD:0022536,GARD:0022061,GARD:0012354,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004668,GARD:0022536,GARD:0004667,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004668,GARD:0022512,GARD:0004667,,Rare renal disease +GARD:0004668,GARD:0022531,GARD:0004667,,Rare genetic disease +GARD:0004680,GARD:0022531,GARD:0022182,,Rare genetic disease +GARD:0004680,GARD:0022520,GARD:0022103,,Rare ophthalmic disorder +GARD:0004683,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0004683,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004683,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004683,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0004683,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0004683,GARD:0022531,GARD:0019987,,Rare genetic disease +GARD:0004683,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0004683,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0004683,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0004683,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0004683,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004684,GARD:0022513,GARD:0005442,,Rare developmental defect during embryogenesis +GARD:0004684,GARD:0022528,GARD:0005442,,Rare otorhinolaryngologic disease +GARD:0004684,GARD:0022531,GARD:0005442,,Rare genetic disease +GARD:0004684,GARD:0022520,GARD:0005442,,Rare ophthalmic disorder +GARD:0004690,GARD:0022513,GARD:0019522,,Rare developmental defect during embryogenesis +GARD:0004690,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0004690,GARD:0022520,GARD:0019522,,Rare ophthalmic disorder +GARD:0004690,GARD:0022531,GARD:0022189,,Rare genetic disease +GARD:0004690,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0004694,GARD:0022531,GARD:0020099,GARD:0018617,Rare genetic disease +GARD:0004694,GARD:0022524,GARD:0021279,GARD:0018617,Rare neurologic disease +GARD:0004694,GARD:0022524,GARD:0020086,GARD:0015664,Rare neurologic disease +GARD:0004694,GARD:0022524,GARD:0020086,GARD:0018617,Rare neurologic disease +GARD:0004694,GARD:0022531,GARD:0022440,GARD:0018617,Rare genetic disease +GARD:0004694,GARD:0022531,GARD:0020099,GARD:0015664,Rare genetic disease +GARD:0004694,GARD:0022531,GARD:0020086,GARD:0018617,Rare genetic disease +GARD:0004694,GARD:0022524,GARD:0022440,GARD:0018617,Rare neurologic disease +GARD:0004694,GARD:0022524,GARD:0022440,GARD:0015664,Rare neurologic disease +GARD:0004694,GARD:0022531,GARD:0021279,GARD:0018617,Rare genetic disease +GARD:0004694,GARD:0022524,GARD:0020099,GARD:0015664,Rare neurologic disease +GARD:0004694,GARD:0022531,GARD:0022440,GARD:0015664,Rare genetic disease +GARD:0004694,GARD:0022524,GARD:0021279,GARD:0015664,Rare neurologic disease +GARD:0004694,GARD:0022531,GARD:0021279,GARD:0015664,Rare genetic disease +GARD:0004694,GARD:0022531,GARD:0020086,GARD:0015664,Rare genetic disease +GARD:0004694,GARD:0022524,GARD:0020099,GARD:0018617,Rare neurologic disease +GARD:0004695,GARD:0022522,GARD:0018889,,Rare hematologic disease +GARD:0004695,GARD:0022531,GARD:0018889,,Rare genetic disease +GARD:0004695,GARD:0022536,GARD:0018889,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004695,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0004695,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0004697,GARD:0022510,GARD:0021160,,Rare skin disease +GARD:0004697,GARD:0022512,GARD:0022291,,Rare renal disease +GARD:0004697,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0004697,GARD:0022536,GARD:0022291,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004697,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0004701,GARD:0022535,GARD:0011951,,Rare neoplastic disease +GARD:0004701,GARD:0022524,GARD:0011951,,Rare neurologic disease +GARD:0004702,GARD:0022535,GARD:0011951,,Rare neoplastic disease +GARD:0004702,GARD:0022524,GARD:0011951,,Rare neurologic disease +GARD:0004703,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0004703,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0004703,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0004704,GARD:0022525,GARD:0020257,,Rare systemic or rheumatologic disease +GARD:0004705,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0004705,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0004705,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0004709,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0004709,GARD:0022531,GARD:0020373,,Rare genetic disease +GARD:0004709,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0004709,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004709,GARD:0022524,GARD:0020373,,Rare neurologic disease +GARD:0004709,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004709,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004709,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0004718,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0004718,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0004718,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0004718,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0004718,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0004718,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0004718,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0004718,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0004718,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0004721,GARD:0022519,GARD:0002922,,Rare surgical cardiac disease +GARD:0004721,GARD:0022513,GARD:0002922,,Rare developmental defect during embryogenesis +GARD:0004722,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0004722,GARD:0022531,GARD:0020828,,Rare genetic disease +GARD:0004722,GARD:0022513,GARD:0020828,,Rare developmental defect during embryogenesis +GARD:0004722,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0004723,GARD:0022531,GARD:0020436,,Rare genetic disease +GARD:0004723,GARD:0022531,GARD:0020426,,Rare genetic disease +GARD:0004723,GARD:0022524,GARD:0009138,,Rare neurologic disease +GARD:0004723,GARD:0022531,GARD:0009138,,Rare genetic disease +GARD:0004724,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0004724,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0004729,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0004729,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0004729,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0004729,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0004730,GARD:0022511,GARD:0007598,,Rare bone disease +GARD:0004730,GARD:0022531,GARD:0007598,,Rare genetic disease +GARD:0004730,GARD:0022535,GARD:0007598,,Rare neoplastic disease +GARD:0004730,GARD:0022520,GARD:0007598,,Rare ophthalmic disorder +GARD:0004730,GARD:0022513,GARD:0007598,,Rare developmental defect during embryogenesis +GARD:0004732,GARD:0022524,GARD:0016624,,Rare neurologic disease +GARD:0004732,GARD:0022531,GARD:0016624,,Rare genetic disease +GARD:0004732,GARD:0022520,GARD:0016624,,Rare ophthalmic disorder +GARD:0004732,GARD:0022513,GARD:0016624,,Rare developmental defect during embryogenesis +GARD:0004732,GARD:0022528,GARD:0016624,,Rare otorhinolaryngologic disease +GARD:0004732,GARD:0022510,GARD:0016624,,Rare skin disease +GARD:0004733,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0004733,GARD:0022531,GARD:0020275,,Rare genetic disease +GARD:0004737,GARD:0022536,GARD:0005445,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004737,GARD:0022531,GARD:0005445,,Rare genetic disease +GARD:0004737,GARD:0022512,GARD:0005445,,Rare renal disease +GARD:0004737,GARD:0022529,GARD:0005445,,Rare infertility +GARD:0004737,GARD:0022514,GARD:0005445,,Rare gynecologic or obstetric disease +GARD:0004737,GARD:0022532,GARD:0005445,,Rare urogenital disease +GARD:0004737,GARD:0022513,GARD:0005445,,Rare developmental defect during embryogenesis +GARD:0004738,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0004738,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0004738,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0004740,GARD:0022511,GARD:0019192,,Rare bone disease +GARD:0004740,GARD:0022513,GARD:0019192,,Rare developmental defect during embryogenesis +GARD:0004740,GARD:0022531,GARD:0019192,,Rare genetic disease +GARD:0004741,GARD:0022531,GARD:0019923,,Rare genetic disease +GARD:0004741,GARD:0022524,GARD:0019923,,Rare neurologic disease +GARD:0004744,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0004744,GARD:0022505,GARD:0020626,,Rare teratologic disease +GARD:0004744,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0004744,GARD:0022509,GARD:0020626,,Rare infectious disease +GARD:0004744,GARD:0022513,GARD:0020626,,Rare developmental defect during embryogenesis +GARD:0004748,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004748,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004748,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004752,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0004752,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0004754,GARD:0022524,GARD:0010870,,Rare neurologic disease +GARD:0004754,GARD:0022531,GARD:0010870,,Rare genetic disease +GARD:0004754,GARD:0022508,GARD:0010870,,Rare inborn errors of metabolism +GARD:0004767,GARD:0022535,GARD:0007180,GARD:0000223,Rare neoplastic disease +GARD:0004767,GARD:0022524,GARD:0007180,GARD:0000223,Rare neurologic disease +GARD:0004768,GARD:0022524,GARD:0020742,GARD:0015094,Rare neurologic disease +GARD:0004768,GARD:0022531,GARD:0019921,GARD:0015094,Rare genetic disease +GARD:0004768,GARD:0022531,GARD:0019921,GARD:0016000,Rare genetic disease +GARD:0004768,GARD:0022535,GARD:0019921,GARD:0016000,Rare neoplastic disease +GARD:0004768,GARD:0022524,GARD:0020742,GARD:0016000,Rare neurologic disease +GARD:0004768,GARD:0022531,GARD:0019431,GARD:0015094,Rare genetic disease +GARD:0004768,GARD:0022535,GARD:0019921,GARD:0015094,Rare neoplastic disease +GARD:0004768,GARD:0022531,GARD:0020270,GARD:0015094,Rare genetic disease +GARD:0004768,GARD:0022510,GARD:0019004,GARD:0016000,Rare skin disease +GARD:0004768,GARD:0022536,GARD:0022061,GARD:0015094,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004768,GARD:0022513,GARD:0019431,GARD:0015094,Rare developmental defect during embryogenesis +GARD:0004768,GARD:0022531,GARD:0019431,GARD:0016000,Rare genetic disease +GARD:0004768,GARD:0022536,GARD:0022061,GARD:0016000,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004768,GARD:0022513,GARD:0019431,GARD:0016000,Rare developmental defect during embryogenesis +GARD:0004768,GARD:0022531,GARD:0020270,GARD:0016000,Rare genetic disease +GARD:0004768,GARD:0022510,GARD:0019004,GARD:0015094,Rare skin disease +GARD:0004769,GARD:0022531,GARD:0020395,GARD:0016120,Rare genetic disease +GARD:0004769,GARD:0022531,GARD:0009138,GARD:0016120,Rare genetic disease +GARD:0004769,GARD:0022524,GARD:0009138,GARD:0016120,Rare neurologic disease +GARD:0004771,GARD:0022531,GARD:0019200,GARD:0015233,Rare genetic disease +GARD:0004771,GARD:0022511,GARD:0019200,GARD:0015233,Rare bone disease +GARD:0004771,GARD:0022511,GARD:0019200,GARD:0015786,Rare bone disease +GARD:0004771,GARD:0022513,GARD:0019200,GARD:0015233,Rare developmental defect during embryogenesis +GARD:0004771,GARD:0022513,GARD:0019200,GARD:0015786,Rare developmental defect during embryogenesis +GARD:0004771,GARD:0022531,GARD:0019200,GARD:0015786,Rare genetic disease +GARD:0004774,GARD:0022508,GARD:0018960,,Rare inborn errors of metabolism +GARD:0004774,GARD:0022531,GARD:0018960,,Rare genetic disease +GARD:0004775,GARD:0022532,GARD:0020064,GARD:0015029,Rare urogenital disease +GARD:0004775,GARD:0022531,GARD:0020064,GARD:0015029,Rare genetic disease +GARD:0004775,GARD:0022524,GARD:0019832,GARD:0015029,Rare neurologic disease +GARD:0004775,GARD:0022531,GARD:0020299,GARD:0015029,Rare genetic disease +GARD:0004775,GARD:0022531,GARD:0022441,GARD:0015029,Rare genetic disease +GARD:0004775,GARD:0022513,GARD:0020064,GARD:0015029,Rare developmental defect during embryogenesis +GARD:0004775,GARD:0022513,GARD:0019902,GARD:0015029,Rare developmental defect during embryogenesis +GARD:0004775,GARD:0022513,GARD:0019832,GARD:0015029,Rare developmental defect during embryogenesis +GARD:0004776,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004776,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004776,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004777,GARD:0022531,GARD:0021020,,Rare genetic disease +GARD:0004777,GARD:0022522,GARD:0021020,,Rare hematologic disease +GARD:0004778,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004778,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004778,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004792,GARD:0022536,GARD:0013047,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004792,GARD:0022532,GARD:0013047,,Rare urogenital disease +GARD:0004792,GARD:0022535,GARD:0013047,,Rare neoplastic disease +GARD:0004815,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0004818,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0004822,GARD:0022508,GARD:0021318,,Rare inborn errors of metabolism +GARD:0004822,GARD:0022524,GARD:0020369,,Rare neurologic disease +GARD:0004822,GARD:0022531,GARD:0020369,,Rare genetic disease +GARD:0004822,GARD:0022531,GARD:0021318,,Rare genetic disease +GARD:0004832,GARD:0022517,GARD:0018726,,Rare respiratory disease +GARD:0004832,GARD:0022531,GARD:0018726,,Rare genetic disease +GARD:0004832,GARD:0022513,GARD:0018726,,Rare developmental defect during embryogenesis +GARD:0004832,GARD:0022511,GARD:0018726,,Rare bone disease +GARD:0004833,GARD:0022511,GARD:0018726,GARD:0015613,Rare bone disease +GARD:0004833,GARD:0022517,GARD:0018726,GARD:0015224,Rare respiratory disease +GARD:0004833,GARD:0022517,GARD:0018726,GARD:0015613,Rare respiratory disease +GARD:0004833,GARD:0022531,GARD:0018726,GARD:0015224,Rare genetic disease +GARD:0004833,GARD:0022511,GARD:0018726,GARD:0015224,Rare bone disease +GARD:0004833,GARD:0022513,GARD:0018726,GARD:0015613,Rare developmental defect during embryogenesis +GARD:0004833,GARD:0022513,GARD:0018726,GARD:0015224,Rare developmental defect during embryogenesis +GARD:0004833,GARD:0022531,GARD:0018726,GARD:0015613,Rare genetic disease +GARD:0004834,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0004834,GARD:0022531,GARD:0018726,,Rare genetic disease +GARD:0004834,GARD:0022517,GARD:0018726,,Rare respiratory disease +GARD:0004834,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004834,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0004834,GARD:0022513,GARD:0018726,,Rare developmental defect during embryogenesis +GARD:0004834,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0004834,GARD:0022511,GARD:0018726,,Rare bone disease +GARD:0004835,GARD:0022513,GARD:0019874,GARD:0015996,Rare developmental defect during embryogenesis +GARD:0004835,GARD:0022534,GARD:0019874,GARD:0015996,Rare abdominal surgical disease +GARD:0004835,GARD:0022517,GARD:0018726,GARD:0015975,Rare respiratory disease +GARD:0004835,GARD:0022517,GARD:0018726,GARD:0015996,Rare respiratory disease +GARD:0004835,GARD:0022534,GARD:0019874,GARD:0015756,Rare abdominal surgical disease +GARD:0004835,GARD:0022534,GARD:0019874,GARD:0015613,Rare abdominal surgical disease +GARD:0004835,GARD:0022534,GARD:0019874,GARD:0015975,Rare abdominal surgical disease +GARD:0004835,GARD:0022511,GARD:0018726,GARD:0015975,Rare bone disease +GARD:0004835,GARD:0022536,GARD:0019874,GARD:0015613,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004835,GARD:0022531,GARD:0018726,GARD:0015975,Rare genetic disease +GARD:0004835,GARD:0022531,GARD:0018726,GARD:0015756,Rare genetic disease +GARD:0004835,GARD:0022531,GARD:0018726,GARD:0015996,Rare genetic disease +GARD:0004835,GARD:0022531,GARD:0019874,GARD:0015996,Rare genetic disease +GARD:0004835,GARD:0022513,GARD:0019874,GARD:0015613,Rare developmental defect during embryogenesis +GARD:0004835,GARD:0022531,GARD:0019874,GARD:0015975,Rare genetic disease +GARD:0004835,GARD:0022513,GARD:0018726,GARD:0015996,Rare developmental defect during embryogenesis +GARD:0004835,GARD:0022517,GARD:0018726,GARD:0015613,Rare respiratory disease +GARD:0004835,GARD:0022513,GARD:0019874,GARD:0015975,Rare developmental defect during embryogenesis +GARD:0004835,GARD:0022513,GARD:0018726,GARD:0015756,Rare developmental defect during embryogenesis +GARD:0004835,GARD:0022513,GARD:0018726,GARD:0015975,Rare developmental defect during embryogenesis +GARD:0004835,GARD:0022531,GARD:0018726,GARD:0015613,Rare genetic disease +GARD:0004835,GARD:0022536,GARD:0019874,GARD:0015996,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004835,GARD:0022531,GARD:0019874,GARD:0015613,Rare genetic disease +GARD:0004835,GARD:0022531,GARD:0019874,GARD:0015756,Rare genetic disease +GARD:0004835,GARD:0022511,GARD:0018726,GARD:0015613,Rare bone disease +GARD:0004835,GARD:0022511,GARD:0018726,GARD:0015756,Rare bone disease +GARD:0004835,GARD:0022513,GARD:0018726,GARD:0015613,Rare developmental defect during embryogenesis +GARD:0004835,GARD:0022513,GARD:0019874,GARD:0015756,Rare developmental defect during embryogenesis +GARD:0004835,GARD:0022536,GARD:0019874,GARD:0015756,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004835,GARD:0022511,GARD:0018726,GARD:0015996,Rare bone disease +GARD:0004835,GARD:0022536,GARD:0019874,GARD:0015975,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004835,GARD:0022517,GARD:0018726,GARD:0015756,Rare respiratory disease +GARD:0004838,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0004838,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0004838,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0004841,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0004841,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0004841,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0004856,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004856,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004856,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004861,GARD:0022525,GARD:0021129,,Rare systemic or rheumatologic disease +GARD:0004861,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004861,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0004861,GARD:0022531,GARD:0021129,,Rare genetic disease +GARD:0004861,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004861,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0004861,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0004861,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004863,GARD:0022531,GARD:0020321,GARD:0016272,Rare genetic disease +GARD:0004863,GARD:0022536,GARD:0018889,GARD:0016272,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004863,GARD:0022513,GARD:0019192,GARD:0015221,Rare developmental defect during embryogenesis +GARD:0004863,GARD:0022523,GARD:0020321,GARD:0016272,Rare immune disease +GARD:0004863,GARD:0022513,GARD:0019192,GARD:0016272,Rare developmental defect during embryogenesis +GARD:0004863,GARD:0022531,GARD:0019192,GARD:0016272,Rare genetic disease +GARD:0004863,GARD:0022531,GARD:0019192,GARD:0015221,Rare genetic disease +GARD:0004863,GARD:0022513,GARD:0019832,GARD:0015221,Rare developmental defect during embryogenesis +GARD:0004863,GARD:0022522,GARD:0018889,GARD:0016272,Rare hematologic disease +GARD:0004863,GARD:0022531,GARD:0020259,GARD:0015221,Rare genetic disease +GARD:0004863,GARD:0022531,GARD:0020321,GARD:0015221,Rare genetic disease +GARD:0004863,GARD:0022535,GARD:0020259,GARD:0016272,Rare neoplastic disease +GARD:0004863,GARD:0022536,GARD:0018889,GARD:0015221,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004863,GARD:0022531,GARD:0020062,GARD:0015221,Rare genetic disease +GARD:0004863,GARD:0022531,GARD:0022441,GARD:0015221,Rare genetic disease +GARD:0004863,GARD:0022511,GARD:0019192,GARD:0015221,Rare bone disease +GARD:0004863,GARD:0022522,GARD:0018889,GARD:0015221,Rare hematologic disease +GARD:0004863,GARD:0022531,GARD:0020259,GARD:0016272,Rare genetic disease +GARD:0004863,GARD:0022531,GARD:0018889,GARD:0016272,Rare genetic disease +GARD:0004863,GARD:0022535,GARD:0020259,GARD:0015221,Rare neoplastic disease +GARD:0004863,GARD:0022531,GARD:0018889,GARD:0015221,Rare genetic disease +GARD:0004863,GARD:0022511,GARD:0019192,GARD:0016272,Rare bone disease +GARD:0004863,GARD:0022524,GARD:0019832,GARD:0016272,Rare neurologic disease +GARD:0004863,GARD:0022513,GARD:0019832,GARD:0016272,Rare developmental defect during embryogenesis +GARD:0004863,GARD:0022516,GARD:0019787,GARD:0015221,Rare gastroenterologic disease +GARD:0004863,GARD:0022524,GARD:0019832,GARD:0015221,Rare neurologic disease +GARD:0004863,GARD:0022523,GARD:0020321,GARD:0015221,Rare immune disease +GARD:0004863,GARD:0022531,GARD:0022441,GARD:0016272,Rare genetic disease +GARD:0004863,GARD:0022531,GARD:0020062,GARD:0016272,Rare genetic disease +GARD:0004863,GARD:0022516,GARD:0019787,GARD:0016272,Rare gastroenterologic disease +GARD:0004865,GARD:0022508,GARD:0021332,,Rare inborn errors of metabolism +GARD:0004865,GARD:0022531,GARD:0021332,,Rare genetic disease +GARD:0004867,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0004867,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0004867,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0004867,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0004869,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0004869,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0004869,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0004870,GARD:0022513,GARD:0019832,GARD:0020605,Rare developmental defect during embryogenesis +GARD:0004870,GARD:0022535,GARD:0020259,GARD:0020603,Rare neoplastic disease +GARD:0004870,GARD:0022531,GARD:0022094,GARD:0017628,Rare genetic disease +GARD:0004870,GARD:0022531,GARD:0022094,GARD:0020603,Rare genetic disease +GARD:0004870,GARD:0022531,GARD:0022094,GARD:0020605,Rare genetic disease +GARD:0004870,GARD:0022531,GARD:0020299,GARD:0020604,Rare genetic disease +GARD:0004870,GARD:0022531,GARD:0022441,GARD:0020605,Rare genetic disease +GARD:0004870,GARD:0022513,GARD:0019832,GARD:0020604,Rare developmental defect during embryogenesis +GARD:0004870,GARD:0022531,GARD:0020259,GARD:0017628,Rare genetic disease +GARD:0004870,GARD:0022513,GARD:0019902,GARD:0020605,Rare developmental defect during embryogenesis +GARD:0004870,GARD:0022531,GARD:0020299,GARD:0020606,Rare genetic disease +GARD:0004870,GARD:0022531,GARD:0020299,GARD:0020603,Rare genetic disease +GARD:0004870,GARD:0022531,GARD:0020259,GARD:0020604,Rare genetic disease +GARD:0004870,GARD:0022520,GARD:0022094,GARD:0020603,Rare ophthalmic disorder +GARD:0004870,GARD:0022531,GARD:0020299,GARD:0020605,Rare genetic disease +GARD:0004870,GARD:0022535,GARD:0020259,GARD:0017628,Rare neoplastic disease +GARD:0004870,GARD:0022513,GARD:0019902,GARD:0017628,Rare developmental defect during embryogenesis +GARD:0004870,GARD:0022531,GARD:0020259,GARD:0020606,Rare genetic disease +GARD:0004870,GARD:0022535,GARD:0020259,GARD:0020604,Rare neoplastic disease +GARD:0004870,GARD:0022524,GARD:0019832,GARD:0020604,Rare neurologic disease +GARD:0004870,GARD:0022520,GARD:0022094,GARD:0020604,Rare ophthalmic disorder +GARD:0004870,GARD:0022524,GARD:0019832,GARD:0019334,Rare neurologic disease +GARD:0004870,GARD:0022531,GARD:0022441,GARD:0017628,Rare genetic disease +GARD:0004870,GARD:0022513,GARD:0019832,GARD:0019334,Rare developmental defect during embryogenesis +GARD:0004870,GARD:0022513,GARD:0019902,GARD:0020603,Rare developmental defect during embryogenesis +GARD:0004870,GARD:0022520,GARD:0022094,GARD:0020605,Rare ophthalmic disorder +GARD:0004870,GARD:0022513,GARD:0019902,GARD:0020604,Rare developmental defect during embryogenesis +GARD:0004870,GARD:0022531,GARD:0020259,GARD:0019334,Rare genetic disease +GARD:0004870,GARD:0022513,GARD:0019832,GARD:0017628,Rare developmental defect during embryogenesis +GARD:0004870,GARD:0022531,GARD:0022094,GARD:0020606,Rare genetic disease +GARD:0004870,GARD:0022531,GARD:0022441,GARD:0019334,Rare genetic disease +GARD:0004870,GARD:0022513,GARD:0019832,GARD:0020603,Rare developmental defect during embryogenesis +GARD:0004870,GARD:0022531,GARD:0020259,GARD:0020605,Rare genetic disease +GARD:0004870,GARD:0022535,GARD:0020259,GARD:0020606,Rare neoplastic disease +GARD:0004870,GARD:0022513,GARD:0019902,GARD:0019334,Rare developmental defect during embryogenesis +GARD:0004870,GARD:0022531,GARD:0022441,GARD:0020603,Rare genetic disease +GARD:0004870,GARD:0022524,GARD:0019832,GARD:0020605,Rare neurologic disease +GARD:0004870,GARD:0022520,GARD:0022094,GARD:0017628,Rare ophthalmic disorder +GARD:0004870,GARD:0022535,GARD:0020259,GARD:0019334,Rare neoplastic disease +GARD:0004870,GARD:0022524,GARD:0019832,GARD:0017628,Rare neurologic disease +GARD:0004870,GARD:0022531,GARD:0022094,GARD:0019334,Rare genetic disease +GARD:0004870,GARD:0022513,GARD:0019902,GARD:0020606,Rare developmental defect during embryogenesis +GARD:0004870,GARD:0022520,GARD:0022094,GARD:0019334,Rare ophthalmic disorder +GARD:0004870,GARD:0022531,GARD:0020299,GARD:0019334,Rare genetic disease +GARD:0004870,GARD:0022513,GARD:0019832,GARD:0020606,Rare developmental defect during embryogenesis +GARD:0004870,GARD:0022520,GARD:0022094,GARD:0020606,Rare ophthalmic disorder +GARD:0004870,GARD:0022524,GARD:0019832,GARD:0020606,Rare neurologic disease +GARD:0004870,GARD:0022531,GARD:0020259,GARD:0020603,Rare genetic disease +GARD:0004870,GARD:0022524,GARD:0019832,GARD:0020603,Rare neurologic disease +GARD:0004870,GARD:0022531,GARD:0020299,GARD:0017628,Rare genetic disease +GARD:0004870,GARD:0022535,GARD:0020259,GARD:0020605,Rare neoplastic disease +GARD:0004870,GARD:0022531,GARD:0022441,GARD:0020606,Rare genetic disease +GARD:0004870,GARD:0022531,GARD:0022094,GARD:0020604,Rare genetic disease +GARD:0004870,GARD:0022531,GARD:0022441,GARD:0020604,Rare genetic disease +GARD:0004873,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0004873,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0004877,GARD:0022531,GARD:0017290,,Rare genetic disease +GARD:0004877,GARD:0022513,GARD:0017290,,Rare developmental defect during embryogenesis +GARD:0004877,GARD:0022524,GARD:0017290,,Rare neurologic disease +GARD:0004879,GARD:0022531,GARD:0010005,,Rare genetic disease +GARD:0004879,GARD:0022515,GARD:0010005,,Rare cardiac disease +GARD:0004880,GARD:0022531,GARD:0013663,,Rare genetic disease +GARD:0004880,GARD:0022515,GARD:0013663,,Rare cardiac disease +GARD:0004881,GARD:0022535,GARD:0019765,,Rare neoplastic disease +GARD:0004881,GARD:0022521,GARD:0019765,,Rare endocrine disease +GARD:0004881,GARD:0022516,GARD:0003830,,Rare gastroenterologic disease +GARD:0004881,GARD:0022531,GARD:0003830,,Rare genetic disease +GARD:0004881,GARD:0022521,GARD:0003830,,Rare endocrine disease +GARD:0004881,GARD:0022535,GARD:0003830,,Rare neoplastic disease +GARD:0004883,GARD:0022536,GARD:0019861,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004883,GARD:0022513,GARD:0019861,,Rare developmental defect during embryogenesis +GARD:0004883,GARD:0022519,GARD:0010875,,Rare surgical cardiac disease +GARD:0004883,GARD:0022531,GARD:0019861,,Rare genetic disease +GARD:0004883,GARD:0022513,GARD:0010875,,Rare developmental defect during embryogenesis +GARD:0004883,GARD:0022534,GARD:0019861,,Rare abdominal surgical disease +GARD:0004883,GARD:0022531,GARD:0021016,,Rare genetic disease +GARD:0004886,GARD:0022531,GARD:0022022,,Rare genetic disease +GARD:0004886,GARD:0022511,GARD:0022022,,Rare bone disease +GARD:0004886,GARD:0022513,GARD:0022022,,Rare developmental defect during embryogenesis +GARD:0004891,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0004891,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0004891,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0004891,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0004891,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0004891,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0004891,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0010872,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0006913,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0015014,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0018941,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0007721,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0017105,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0002327,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0006963,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0021943,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0019081,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0011951,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0007572,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0009569,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0017600,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0020900,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0005654,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0006880,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0006265,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0017601,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0006814,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0022368,Rare neoplastic disease +GARD:0004898,GARD:0022535,GARD:0018907,GARD:0010181,Rare neoplastic disease +GARD:0004899,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004899,GARD:0022521,GARD:0020233,,Rare endocrine disease +GARD:0004899,GARD:0022531,GARD:0020233,,Rare genetic disease +GARD:0004899,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004899,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004899,GARD:0022529,GARD:0020233,,Rare infertility +GARD:0004900,GARD:0022535,GARD:0019751,,Rare neoplastic disease +GARD:0004900,GARD:0022516,GARD:0019752,,Rare gastroenterologic disease +GARD:0004900,GARD:0022535,GARD:0019752,,Rare neoplastic disease +GARD:0004900,GARD:0022516,GARD:0019751,,Rare gastroenterologic disease +GARD:0004900,GARD:0022516,GARD:0022053,,Rare gastroenterologic disease +GARD:0004900,GARD:0022521,GARD:0019752,,Rare endocrine disease +GARD:0004900,GARD:0022521,GARD:0022053,,Rare endocrine disease +GARD:0004900,GARD:0022536,GARD:0019752,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004900,GARD:0022535,GARD:0022053,,Rare neoplastic disease +GARD:0004900,GARD:0022536,GARD:0019751,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004900,GARD:0022521,GARD:0019751,,Rare endocrine disease +GARD:0004905,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0004905,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0004905,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0004910,GARD:0022524,GARD:0021403,,Rare neurologic disease +GARD:0004910,GARD:0022531,GARD:0021403,,Rare genetic disease +GARD:0004914,GARD:0022524,GARD:0019478,,Rare neurologic disease +GARD:0004914,GARD:0022531,GARD:0019478,,Rare genetic disease +GARD:0004918,GARD:0022531,GARD:0019770,,Rare genetic disease +GARD:0004918,GARD:0022524,GARD:0019770,,Rare neurologic disease +GARD:0004919,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0004919,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0004919,GARD:0022531,GARD:0021431,,Rare genetic disease +GARD:0004919,GARD:0022524,GARD:0021431,,Rare neurologic disease +GARD:0004921,GARD:0022524,GARD:0019770,,Rare neurologic disease +GARD:0004921,GARD:0022531,GARD:0019770,,Rare genetic disease +GARD:0004922,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0004922,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0004922,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0004922,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0004923,GARD:0022531,GARD:0021432,,Rare genetic disease +GARD:0004923,GARD:0022524,GARD:0021432,,Rare neurologic disease +GARD:0004923,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0004923,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0004923,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0004923,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0004924,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0004924,GARD:0022531,GARD:0021517,,Rare genetic disease +GARD:0004924,GARD:0022508,GARD:0021517,,Rare inborn errors of metabolism +GARD:0004924,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0004925,GARD:0022531,GARD:0021430,,Rare genetic disease +GARD:0004925,GARD:0022524,GARD:0021430,,Rare neurologic disease +GARD:0004926,GARD:0022524,GARD:0021431,,Rare neurologic disease +GARD:0004926,GARD:0022531,GARD:0021431,,Rare genetic disease +GARD:0004927,GARD:0022524,GARD:0021431,,Rare neurologic disease +GARD:0004927,GARD:0022531,GARD:0021430,,Rare genetic disease +GARD:0004927,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0004927,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0004927,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0004927,GARD:0022524,GARD:0021430,,Rare neurologic disease +GARD:0004927,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0004927,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0004927,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0004927,GARD:0022531,GARD:0021431,,Rare genetic disease +GARD:0004928,GARD:0022531,GARD:0021430,,Rare genetic disease +GARD:0004928,GARD:0022524,GARD:0021430,,Rare neurologic disease +GARD:0004931,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0004931,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0004931,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0004931,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0004931,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0004931,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0004932,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0004932,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0004932,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0004932,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0004936,GARD:0022531,GARD:0019194,GARD:0015844,Rare genetic disease +GARD:0004936,GARD:0022511,GARD:0019194,GARD:0015428,Rare bone disease +GARD:0004936,GARD:0022520,GARD:0019524,GARD:0015428,Rare ophthalmic disorder +GARD:0004936,GARD:0022531,GARD:0019524,GARD:0015844,Rare genetic disease +GARD:0004936,GARD:0022531,GARD:0022173,GARD:0015428,Rare genetic disease +GARD:0004936,GARD:0022513,GARD:0019833,GARD:0015246,Rare developmental defect during embryogenesis +GARD:0004936,GARD:0022531,GARD:0021507,GARD:0015428,Rare genetic disease +GARD:0004936,GARD:0022520,GARD:0022092,GARD:0015428,Rare ophthalmic disorder +GARD:0004936,GARD:0022520,GARD:0022093,GARD:0015428,Rare ophthalmic disorder +GARD:0004936,GARD:0022520,GARD:0022093,GARD:0015246,Rare ophthalmic disorder +GARD:0004936,GARD:0022531,GARD:0021507,GARD:0015844,Rare genetic disease +GARD:0004936,GARD:0022513,GARD:0019833,GARD:0015428,Rare developmental defect during embryogenesis +GARD:0004936,GARD:0022513,GARD:0022092,GARD:0015246,Rare developmental defect during embryogenesis +GARD:0004936,GARD:0022531,GARD:0022093,GARD:0015246,Rare genetic disease +GARD:0004936,GARD:0022511,GARD:0019194,GARD:0015246,Rare bone disease +GARD:0004936,GARD:0022531,GARD:0021507,GARD:0015246,Rare genetic disease +GARD:0004936,GARD:0022531,GARD:0022093,GARD:0015428,Rare genetic disease +GARD:0004936,GARD:0022513,GARD:0022093,GARD:0015428,Rare developmental defect during embryogenesis +GARD:0004936,GARD:0022520,GARD:0022092,GARD:0015844,Rare ophthalmic disorder +GARD:0004936,GARD:0022520,GARD:0019524,GARD:0015844,Rare ophthalmic disorder +GARD:0004936,GARD:0022513,GARD:0019194,GARD:0015844,Rare developmental defect during embryogenesis +GARD:0004936,GARD:0022531,GARD:0022173,GARD:0015246,Rare genetic disease +GARD:0004936,GARD:0022513,GARD:0022093,GARD:0015246,Rare developmental defect during embryogenesis +GARD:0004936,GARD:0022531,GARD:0019524,GARD:0015428,Rare genetic disease +GARD:0004936,GARD:0022531,GARD:0022173,GARD:0015844,Rare genetic disease +GARD:0004936,GARD:0022513,GARD:0022093,GARD:0015844,Rare developmental defect during embryogenesis +GARD:0004936,GARD:0022520,GARD:0022093,GARD:0015844,Rare ophthalmic disorder +GARD:0004936,GARD:0022520,GARD:0019524,GARD:0015246,Rare ophthalmic disorder +GARD:0004936,GARD:0022513,GARD:0022092,GARD:0015844,Rare developmental defect during embryogenesis +GARD:0004936,GARD:0022513,GARD:0019833,GARD:0015844,Rare developmental defect during embryogenesis +GARD:0004936,GARD:0022513,GARD:0019194,GARD:0015428,Rare developmental defect during embryogenesis +GARD:0004936,GARD:0022513,GARD:0022092,GARD:0015428,Rare developmental defect during embryogenesis +GARD:0004936,GARD:0022513,GARD:0019194,GARD:0015246,Rare developmental defect during embryogenesis +GARD:0004936,GARD:0022531,GARD:0022093,GARD:0015844,Rare genetic disease +GARD:0004936,GARD:0022531,GARD:0019194,GARD:0015428,Rare genetic disease +GARD:0004936,GARD:0022531,GARD:0019524,GARD:0015246,Rare genetic disease +GARD:0004936,GARD:0022531,GARD:0019194,GARD:0015246,Rare genetic disease +GARD:0004936,GARD:0022511,GARD:0019194,GARD:0015844,Rare bone disease +GARD:0004936,GARD:0022520,GARD:0022092,GARD:0015246,Rare ophthalmic disorder +GARD:0004938,GARD:0022531,GARD:0007140,GARD:0017152,Rare genetic disease +GARD:0004938,GARD:0022524,GARD:0010739,GARD:0005897,Rare neurologic disease +GARD:0004938,GARD:0022531,GARD:0007140,GARD:0006618,Rare genetic disease +GARD:0004938,GARD:0022531,GARD:0019491,GARD:0001218,Rare genetic disease +GARD:0004938,GARD:0022531,GARD:0022108,GARD:0017152,Rare genetic disease +GARD:0004938,GARD:0022524,GARD:0010739,GARD:0001218,Rare neurologic disease +GARD:0004938,GARD:0022531,GARD:0010739,GARD:0006618,Rare genetic disease +GARD:0004938,GARD:0022524,GARD:0007140,GARD:0003045,Rare neurologic disease +GARD:0004938,GARD:0022531,GARD:0007140,GARD:0005897,Rare genetic disease +GARD:0004938,GARD:0022531,GARD:0022108,GARD:0001218,Rare genetic disease +GARD:0004938,GARD:0022531,GARD:0010739,GARD:0017152,Rare genetic disease +GARD:0004938,GARD:0022531,GARD:0007140,GARD:0003045,Rare genetic disease +GARD:0004938,GARD:0022531,GARD:0019491,GARD:0005897,Rare genetic disease +GARD:0004938,GARD:0022531,GARD:0019491,GARD:0006618,Rare genetic disease +GARD:0004938,GARD:0022531,GARD:0010739,GARD:0003045,Rare genetic disease +GARD:0004938,GARD:0022531,GARD:0022108,GARD:0006618,Rare genetic disease +GARD:0004938,GARD:0022531,GARD:0010739,GARD:0001219,Rare genetic disease +GARD:0004938,GARD:0022520,GARD:0022108,GARD:0001219,Rare ophthalmic disorder +GARD:0004938,GARD:0022524,GARD:0010739,GARD:0003045,Rare neurologic disease +GARD:0004938,GARD:0022524,GARD:0010739,GARD:0001219,Rare neurologic disease +GARD:0004938,GARD:0022531,GARD:0007140,GARD:0001218,Rare genetic disease +GARD:0004938,GARD:0022508,GARD:0010739,GARD:0006618,Rare inborn errors of metabolism +GARD:0004938,GARD:0022508,GARD:0010739,GARD:0017152,Rare inborn errors of metabolism +GARD:0004938,GARD:0022531,GARD:0019491,GARD:0003045,Rare genetic disease +GARD:0004938,GARD:0022520,GARD:0022108,GARD:0003045,Rare ophthalmic disorder +GARD:0004938,GARD:0022531,GARD:0022108,GARD:0003045,Rare genetic disease +GARD:0004938,GARD:0022524,GARD:0007140,GARD:0006618,Rare neurologic disease +GARD:0004938,GARD:0022524,GARD:0010739,GARD:0006618,Rare neurologic disease +GARD:0004938,GARD:0022531,GARD:0007140,GARD:0001219,Rare genetic disease +GARD:0004938,GARD:0022524,GARD:0007140,GARD:0001218,Rare neurologic disease +GARD:0004938,GARD:0022524,GARD:0019491,GARD:0017152,Rare neurologic disease +GARD:0004938,GARD:0022531,GARD:0022108,GARD:0001219,Rare genetic disease +GARD:0004938,GARD:0022520,GARD:0022108,GARD:0005897,Rare ophthalmic disorder +GARD:0004938,GARD:0022508,GARD:0010739,GARD:0001219,Rare inborn errors of metabolism +GARD:0004938,GARD:0022524,GARD:0019491,GARD:0006618,Rare neurologic disease +GARD:0004938,GARD:0022508,GARD:0010739,GARD:0001218,Rare inborn errors of metabolism +GARD:0004938,GARD:0022524,GARD:0019491,GARD:0001218,Rare neurologic disease +GARD:0004938,GARD:0022520,GARD:0022108,GARD:0017152,Rare ophthalmic disorder +GARD:0004938,GARD:0022524,GARD:0007140,GARD:0001219,Rare neurologic disease +GARD:0004938,GARD:0022531,GARD:0019491,GARD:0001219,Rare genetic disease +GARD:0004938,GARD:0022524,GARD:0007140,GARD:0005897,Rare neurologic disease +GARD:0004938,GARD:0022524,GARD:0010739,GARD:0017152,Rare neurologic disease +GARD:0004938,GARD:0022524,GARD:0019491,GARD:0005897,Rare neurologic disease +GARD:0004938,GARD:0022531,GARD:0019491,GARD:0017152,Rare genetic disease +GARD:0004938,GARD:0022531,GARD:0010739,GARD:0005897,Rare genetic disease +GARD:0004938,GARD:0022508,GARD:0010739,GARD:0005897,Rare inborn errors of metabolism +GARD:0004938,GARD:0022524,GARD:0019491,GARD:0003045,Rare neurologic disease +GARD:0004938,GARD:0022520,GARD:0022108,GARD:0006618,Rare ophthalmic disorder +GARD:0004938,GARD:0022508,GARD:0010739,GARD:0003045,Rare inborn errors of metabolism +GARD:0004938,GARD:0022531,GARD:0010739,GARD:0001218,Rare genetic disease +GARD:0004938,GARD:0022531,GARD:0022108,GARD:0005897,Rare genetic disease +GARD:0004938,GARD:0022520,GARD:0022108,GARD:0001218,Rare ophthalmic disorder +GARD:0004938,GARD:0022524,GARD:0007140,GARD:0017152,Rare neurologic disease +GARD:0004938,GARD:0022524,GARD:0019491,GARD:0001219,Rare neurologic disease +GARD:0004940,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0004940,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0004940,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0004940,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0004940,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0004942,GARD:0022531,GARD:0020368,,Rare genetic disease +GARD:0004942,GARD:0022524,GARD:0020368,,Rare neurologic disease +GARD:0004945,GARD:0022531,GARD:0004531,,Rare genetic disease +GARD:0004945,GARD:0022524,GARD:0004531,,Rare neurologic disease +GARD:0004947,GARD:0022524,GARD:0017882,,Rare neurologic disease +GARD:0004947,GARD:0022513,GARD:0017882,,Rare developmental defect during embryogenesis +GARD:0004947,GARD:0022531,GARD:0017882,,Rare genetic disease +GARD:0004950,GARD:0022531,GARD:0019253,,Rare genetic disease +GARD:0004950,GARD:0022524,GARD:0019253,,Rare neurologic disease +GARD:0004952,GARD:0022524,GARD:0019416,,Rare neurologic disease +GARD:0004952,GARD:0022531,GARD:0019416,,Rare genetic disease +GARD:0004953,GARD:0022531,GARD:0019253,,Rare genetic disease +GARD:0004953,GARD:0022524,GARD:0019253,,Rare neurologic disease +GARD:0004954,GARD:0022531,GARD:0018718,,Rare genetic disease +GARD:0004954,GARD:0022524,GARD:0018718,,Rare neurologic disease +GARD:0004955,GARD:0022531,GARD:0020405,,Rare genetic disease +GARD:0004955,GARD:0022524,GARD:0020405,,Rare neurologic disease +GARD:0004955,GARD:0022531,GARD:0019546,,Rare genetic disease +GARD:0004955,GARD:0022520,GARD:0019546,,Rare ophthalmic disorder +GARD:0004956,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0004956,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0004958,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0004958,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0004963,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0004963,GARD:0022513,GARD:0019862,,Rare developmental defect during embryogenesis +GARD:0004963,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0004963,GARD:0022531,GARD:0019862,,Rare genetic disease +GARD:0004963,GARD:0022534,GARD:0019862,,Rare abdominal surgical disease +GARD:0004963,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0004963,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0004963,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0004967,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0004967,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0004967,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0004969,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0004969,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0004969,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0004969,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0004969,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0004970,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0004970,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0004970,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0004972,GARD:0022513,GARD:0019193,,Rare developmental defect during embryogenesis +GARD:0004972,GARD:0022531,GARD:0019193,,Rare genetic disease +GARD:0004972,GARD:0022511,GARD:0019193,,Rare bone disease +GARD:0004973,GARD:0022508,GARD:0006798,,Rare inborn errors of metabolism +GARD:0004973,GARD:0022511,GARD:0006798,,Rare bone disease +GARD:0004973,GARD:0022531,GARD:0006798,,Rare genetic disease +GARD:0004973,GARD:0022513,GARD:0006798,,Rare developmental defect during embryogenesis +GARD:0004974,GARD:0022531,GARD:0019190,,Rare genetic disease +GARD:0004974,GARD:0022511,GARD:0019193,,Rare bone disease +GARD:0004974,GARD:0022513,GARD:0019193,,Rare developmental defect during embryogenesis +GARD:0004974,GARD:0022531,GARD:0019193,,Rare genetic disease +GARD:0004976,GARD:0022511,GARD:0006798,,Rare bone disease +GARD:0004976,GARD:0022508,GARD:0006798,,Rare inborn errors of metabolism +GARD:0004976,GARD:0022531,GARD:0006798,,Rare genetic disease +GARD:0004976,GARD:0022513,GARD:0006798,,Rare developmental defect during embryogenesis +GARD:0004977,GARD:0022531,GARD:0013171,,Rare genetic disease +GARD:0004977,GARD:0022513,GARD:0013171,,Rare developmental defect during embryogenesis +GARD:0004977,GARD:0022511,GARD:0013171,,Rare bone disease +GARD:0004978,GARD:0022531,GARD:0021957,,Rare genetic disease +GARD:0004978,GARD:0021079,GARD:0021986,,Rare systemic or rheumatological disease of childhood +GARD:0004978,GARD:0022513,GARD:0018685,,Rare developmental defect during embryogenesis +GARD:0004978,GARD:0022531,GARD:0020116,,Rare genetic disease +GARD:0004978,GARD:0022523,GARD:0020116,,Rare immune disease +GARD:0004978,GARD:0022531,GARD:0018685,,Rare genetic disease +GARD:0004978,GARD:0022536,GARD:0020116,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004978,GARD:0022525,GARD:0021957,,Rare systemic or rheumatologic disease +GARD:0004978,GARD:0022511,GARD:0018685,,Rare bone disease +GARD:0004979,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0004979,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0004979,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0004980,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0004980,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0004980,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0004982,GARD:0022511,GARD:0019198,GARD:0016348,Rare bone disease +GARD:0004982,GARD:0022531,GARD:0022094,GARD:0016348,Rare genetic disease +GARD:0004982,GARD:0022511,GARD:0007687,GARD:0016348,Rare bone disease +GARD:0004982,GARD:0022513,GARD:0021609,GARD:0016348,Rare developmental defect during embryogenesis +GARD:0004982,GARD:0022531,GARD:0007687,GARD:0016348,Rare genetic disease +GARD:0004982,GARD:0022531,GARD:0021337,GARD:0016348,Rare genetic disease +GARD:0004982,GARD:0022531,GARD:0021610,GARD:0016348,Rare genetic disease +GARD:0004982,GARD:0022510,GARD:0021610,GARD:0016348,Rare skin disease +GARD:0004982,GARD:0022520,GARD:0022094,GARD:0016348,Rare ophthalmic disorder +GARD:0004982,GARD:0022513,GARD:0007687,GARD:0016348,Rare developmental defect during embryogenesis +GARD:0004982,GARD:0022531,GARD:0019198,GARD:0016348,Rare genetic disease +GARD:0004982,GARD:0022513,GARD:0019198,GARD:0016348,Rare developmental defect during embryogenesis +GARD:0004982,GARD:0022508,GARD:0021337,GARD:0016348,Rare inborn errors of metabolism +GARD:0004982,GARD:0022531,GARD:0021609,GARD:0016348,Rare genetic disease +GARD:0004984,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0004984,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0004984,GARD:0022523,GARD:0020115,,Rare immune disease +GARD:0004984,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0004984,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0004984,GARD:0022531,GARD:0020209,,Rare genetic disease +GARD:0004984,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0004984,GARD:0022526,GARD:0020209,,Rare odontologic disease +GARD:0004984,GARD:0022513,GARD:0020209,,Rare developmental defect during embryogenesis +GARD:0004984,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0004984,GARD:0022531,GARD:0020115,,Rare genetic disease +GARD:0004985,GARD:0022511,GARD:0010624,,Rare bone disease +GARD:0004985,GARD:0022531,GARD:0010624,,Rare genetic disease +GARD:0004985,GARD:0022513,GARD:0010624,,Rare developmental defect during embryogenesis +GARD:0004987,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0004987,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0004987,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0004987,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0004991,GARD:0022531,GARD:0018685,,Rare genetic disease +GARD:0004991,GARD:0022511,GARD:0018685,,Rare bone disease +GARD:0004991,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0004991,GARD:0022513,GARD:0018685,,Rare developmental defect during embryogenesis +GARD:0004993,GARD:0022513,GARD:0019193,,Rare developmental defect during embryogenesis +GARD:0004993,GARD:0022531,GARD:0019193,,Rare genetic disease +GARD:0004993,GARD:0022511,GARD:0019193,,Rare bone disease +GARD:0004994,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0004994,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0004994,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0004994,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0004997,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0004997,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0005003,GARD:0022510,GARD:0019002,,Rare skin disease +GARD:0005003,GARD:0022531,GARD:0020268,,Rare genetic disease +GARD:0005004,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0005004,GARD:0022510,GARD:0019002,,Rare skin disease +GARD:0005004,GARD:0022531,GARD:0020268,,Rare genetic disease +GARD:0005004,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0005004,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0005012,GARD:0022517,GARD:0020248,,Rare respiratory disease +GARD:0005012,GARD:0022518,GARD:0020211,,Rare surgical thoracic disease +GARD:0005015,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0005015,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0005015,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0005015,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0005015,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0005018,GARD:0022520,GARD:0019531,GARD:0015461,Rare ophthalmic disorder +GARD:0005018,GARD:0022531,GARD:0019531,GARD:0015461,Rare genetic disease +GARD:0005018,GARD:0022528,GARD:0010782,GARD:0015461,Rare otorhinolaryngologic disease +GARD:0005018,GARD:0022513,GARD:0010782,GARD:0015461,Rare developmental defect during embryogenesis +GARD:0005018,GARD:0022507,GARD:0010782,GARD:0015461,Rare maxillo-facial surgical disease +GARD:0005018,GARD:0022531,GARD:0010782,GARD:0015461,Rare genetic disease +GARD:0005018,GARD:0022520,GARD:0010782,GARD:0015461,Rare ophthalmic disorder +GARD:0005018,GARD:0022511,GARD:0010782,GARD:0015461,Rare bone disease +GARD:0005018,GARD:0022531,GARD:0019186,GARD:0015461,Rare genetic disease +GARD:0005020,GARD:0022513,GARD:0010782,,Rare developmental defect during embryogenesis +GARD:0005020,GARD:0022520,GARD:0019531,,Rare ophthalmic disorder +GARD:0005020,GARD:0022520,GARD:0010782,,Rare ophthalmic disorder +GARD:0005020,GARD:0022507,GARD:0010782,,Rare maxillo-facial surgical disease +GARD:0005020,GARD:0022531,GARD:0019531,,Rare genetic disease +GARD:0005020,GARD:0022531,GARD:0010782,,Rare genetic disease +GARD:0005020,GARD:0022531,GARD:0019187,,Rare genetic disease +GARD:0005020,GARD:0022528,GARD:0010782,,Rare otorhinolaryngologic disease +GARD:0005020,GARD:0022511,GARD:0010782,,Rare bone disease +GARD:0005021,GARD:0022513,GARD:0019894,,Rare developmental defect during embryogenesis +GARD:0005021,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0005021,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0005021,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0005021,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0005021,GARD:0022531,GARD:0019894,,Rare genetic disease +GARD:0005021,GARD:0022507,GARD:0019894,,Rare maxillo-facial surgical disease +GARD:0005021,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0005021,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0005021,GARD:0022531,GARD:0019187,,Rare genetic disease +GARD:0005021,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0005021,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0005021,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0005021,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0005021,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0005021,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0005021,GARD:0022528,GARD:0019894,,Rare otorhinolaryngologic disease +GARD:0005023,GARD:0022524,GARD:0019817,GARD:0017756,Rare neurologic disease +GARD:0005023,GARD:0022524,GARD:0020239,GARD:0017754,Rare neurologic disease +GARD:0005023,GARD:0022524,GARD:0019817,GARD:0013110,Rare neurologic disease +GARD:0005023,GARD:0022521,GARD:0020217,GARD:0013110,Rare endocrine disease +GARD:0005023,GARD:0022521,GARD:0020217,GARD:0017754,Rare endocrine disease +GARD:0005023,GARD:0022524,GARD:0020239,GARD:0013110,Rare neurologic disease +GARD:0005023,GARD:0022521,GARD:0020217,GARD:0017756,Rare endocrine disease +GARD:0005023,GARD:0022524,GARD:0019817,GARD:0017754,Rare neurologic disease +GARD:0005023,GARD:0022524,GARD:0020239,GARD:0017756,Rare neurologic disease +GARD:0005025,GARD:0022510,GARD:0019013,GARD:0015171,Rare skin disease +GARD:0005025,GARD:0022531,GARD:0019013,GARD:0015171,Rare genetic disease +GARD:0005026,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005026,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005026,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005027,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0005027,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0005027,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0005029,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0005029,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0005029,GARD:0022513,GARD:0000786,,Rare developmental defect during embryogenesis +GARD:0005029,GARD:0022531,GARD:0000786,,Rare genetic disease +GARD:0005029,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0005034,GARD:0022522,GARD:0021967,,Rare hematologic disease +GARD:0005034,GARD:0022531,GARD:0021967,,Rare genetic disease +GARD:0005036,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005036,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005036,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005040,GARD:0022524,GARD:0021267,GARD:0020549,Rare neurologic disease +GARD:0005040,GARD:0022524,GARD:0020240,GARD:0020549,Rare neurologic disease +GARD:0005040,GARD:0022531,GARD:0022440,GARD:0017141,Rare genetic disease +GARD:0005040,GARD:0022524,GARD:0022440,GARD:0017141,Rare neurologic disease +GARD:0005040,GARD:0022531,GARD:0020280,GARD:0020549,Rare genetic disease +GARD:0005040,GARD:0022531,GARD:0021285,GARD:0017141,Rare genetic disease +GARD:0005040,GARD:0022524,GARD:0022440,GARD:0020549,Rare neurologic disease +GARD:0005040,GARD:0022524,GARD:0021267,GARD:0017141,Rare neurologic disease +GARD:0005040,GARD:0022531,GARD:0021285,GARD:0020549,Rare genetic disease +GARD:0005040,GARD:0022531,GARD:0022440,GARD:0020549,Rare genetic disease +GARD:0005040,GARD:0022524,GARD:0020240,GARD:0017141,Rare neurologic disease +GARD:0005040,GARD:0022531,GARD:0020280,GARD:0017141,Rare genetic disease +GARD:0005041,GARD:0022524,GARD:0021430,,Rare neurologic disease +GARD:0005041,GARD:0022531,GARD:0021430,,Rare genetic disease +GARD:0005045,GARD:0022513,GARD:0019196,,Rare developmental defect during embryogenesis +GARD:0005045,GARD:0022531,GARD:0019196,,Rare genetic disease +GARD:0005045,GARD:0022511,GARD:0019196,,Rare bone disease +GARD:0005049,GARD:0022513,GARD:0012291,GARD:0018007,Rare developmental defect during embryogenesis +GARD:0005049,GARD:0022531,GARD:0012291,GARD:0018007,Rare genetic disease +GARD:0005049,GARD:0022524,GARD:0012291,GARD:0018007,Rare neurologic disease +GARD:0005049,GARD:0022513,GARD:0012291,GARD:0016838,Rare developmental defect during embryogenesis +GARD:0005049,GARD:0022524,GARD:0012291,GARD:0003669,Rare neurologic disease +GARD:0005049,GARD:0022524,GARD:0012291,GARD:0018715,Rare neurologic disease +GARD:0005049,GARD:0022531,GARD:0012291,GARD:0016838,Rare genetic disease +GARD:0005049,GARD:0022513,GARD:0012291,GARD:0003669,Rare developmental defect during embryogenesis +GARD:0005049,GARD:0022531,GARD:0012291,GARD:0018715,Rare genetic disease +GARD:0005049,GARD:0022513,GARD:0012291,GARD:0018715,Rare developmental defect during embryogenesis +GARD:0005049,GARD:0022531,GARD:0012291,GARD:0006914,Rare genetic disease +GARD:0005049,GARD:0022531,GARD:0012291,GARD:0003669,Rare genetic disease +GARD:0005049,GARD:0022524,GARD:0012291,GARD:0006914,Rare neurologic disease +GARD:0005049,GARD:0022513,GARD:0012291,GARD:0006914,Rare developmental defect during embryogenesis +GARD:0005049,GARD:0022524,GARD:0012291,GARD:0016838,Rare neurologic disease +GARD:0005050,GARD:0022524,GARD:0016586,,Rare neurologic disease +GARD:0005050,GARD:0022513,GARD:0016586,,Rare developmental defect during embryogenesis +GARD:0005050,GARD:0022531,GARD:0016586,,Rare genetic disease +GARD:0005051,GARD:0022513,GARD:0016623,,Rare developmental defect during embryogenesis +GARD:0005051,GARD:0022527,GARD:0016623,,Rare circulatory system disease +GARD:0005051,GARD:0022519,GARD:0016623,,Rare surgical cardiac disease +GARD:0005053,GARD:0022531,GARD:0020766,GARD:0016429,Rare genetic disease +GARD:0005053,GARD:0022531,GARD:0020371,GARD:0016430,Rare genetic disease +GARD:0005053,GARD:0022531,GARD:0020371,GARD:0015202,Rare genetic disease +GARD:0005053,GARD:0022531,GARD:0020766,GARD:0016438,Rare genetic disease +GARD:0005053,GARD:0022524,GARD:0022440,GARD:0016429,Rare neurologic disease +GARD:0005053,GARD:0022531,GARD:0020766,GARD:0015202,Rare genetic disease +GARD:0005053,GARD:0022531,GARD:0020371,GARD:0016438,Rare genetic disease +GARD:0005053,GARD:0022524,GARD:0020371,GARD:0015202,Rare neurologic disease +GARD:0005053,GARD:0022524,GARD:0022440,GARD:0016438,Rare neurologic disease +GARD:0005053,GARD:0022524,GARD:0020371,GARD:0016429,Rare neurologic disease +GARD:0005053,GARD:0022531,GARD:0022440,GARD:0016429,Rare genetic disease +GARD:0005053,GARD:0022524,GARD:0022440,GARD:0015202,Rare neurologic disease +GARD:0005053,GARD:0022531,GARD:0022440,GARD:0016430,Rare genetic disease +GARD:0005053,GARD:0022508,GARD:0020766,GARD:0016429,Rare inborn errors of metabolism +GARD:0005053,GARD:0022524,GARD:0020371,GARD:0016430,Rare neurologic disease +GARD:0005053,GARD:0022531,GARD:0020766,GARD:0016430,Rare genetic disease +GARD:0005053,GARD:0022531,GARD:0022440,GARD:0016438,Rare genetic disease +GARD:0005053,GARD:0022508,GARD:0020766,GARD:0016430,Rare inborn errors of metabolism +GARD:0005053,GARD:0022524,GARD:0022440,GARD:0016430,Rare neurologic disease +GARD:0005053,GARD:0022531,GARD:0020371,GARD:0016429,Rare genetic disease +GARD:0005053,GARD:0022524,GARD:0020371,GARD:0016438,Rare neurologic disease +GARD:0005053,GARD:0022508,GARD:0020766,GARD:0015202,Rare inborn errors of metabolism +GARD:0005053,GARD:0022531,GARD:0022440,GARD:0015202,Rare genetic disease +GARD:0005053,GARD:0022508,GARD:0020766,GARD:0016438,Rare inborn errors of metabolism +GARD:0005058,GARD:0022531,GARD:0022022,,Rare genetic disease +GARD:0005058,GARD:0022511,GARD:0022022,,Rare bone disease +GARD:0005058,GARD:0022513,GARD:0022022,,Rare developmental defect during embryogenesis +GARD:0005061,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0005061,GARD:0022513,GARD:0019900,,Rare developmental defect during embryogenesis +GARD:0005061,GARD:0022531,GARD:0021615,,Rare genetic disease +GARD:0005061,GARD:0022531,GARD:0019900,,Rare genetic disease +GARD:0005061,GARD:0022531,GARD:0007672,,Rare genetic disease +GARD:0005061,GARD:0022531,GARD:0021113,,Rare genetic disease +GARD:0005061,GARD:0022536,GARD:0007672,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005061,GARD:0022531,GARD:0019203,,Rare genetic disease +GARD:0005061,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0005061,GARD:0022524,GARD:0021615,,Rare neurologic disease +GARD:0005061,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0005061,GARD:0022508,GARD:0007672,,Rare inborn errors of metabolism +GARD:0005061,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0005061,GARD:0022510,GARD:0021113,,Rare skin disease +GARD:0005061,GARD:0022511,GARD:0019203,,Rare bone disease +GARD:0005062,GARD:0022531,GARD:0016549,,Rare genetic disease +GARD:0005062,GARD:0022508,GARD:0016549,,Rare inborn errors of metabolism +GARD:0005062,GARD:0022520,GARD:0016549,,Rare ophthalmic disorder +GARD:0005062,GARD:0022513,GARD:0016549,,Rare developmental defect during embryogenesis +GARD:0005062,GARD:0022524,GARD:0016549,,Rare neurologic disease +GARD:0005066,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0005066,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005066,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0005066,GARD:0022513,GARD:0019499,,Rare developmental defect during embryogenesis +GARD:0005066,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0005066,GARD:0022520,GARD:0019499,,Rare ophthalmic disorder +GARD:0005066,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005066,GARD:0022531,GARD:0019499,,Rare genetic disease +GARD:0005066,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005068,GARD:0022536,GARD:0020523,GARD:0015703,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005068,GARD:0022513,GARD:0021468,GARD:0015598,Rare developmental defect during embryogenesis +GARD:0005068,GARD:0022532,GARD:0021468,GARD:0009159,Rare urogenital disease +GARD:0005068,GARD:0022531,GARD:0021468,GARD:0015083,Rare genetic disease +GARD:0005068,GARD:0022515,GARD:0020523,GARD:0009159,Rare cardiac disease +GARD:0005068,GARD:0022536,GARD:0022061,GARD:0015174,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005068,GARD:0022536,GARD:0022061,GARD:0015083,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005068,GARD:0022515,GARD:0020523,GARD:0015083,Rare cardiac disease +GARD:0005068,GARD:0022531,GARD:0021468,GARD:0015611,Rare genetic disease +GARD:0005068,GARD:0022521,GARD:0021468,GARD:0009159,Rare endocrine disease +GARD:0005068,GARD:0022531,GARD:0019408,GARD:0015703,Rare genetic disease +GARD:0005068,GARD:0022514,GARD:0019408,GARD:0015174,Rare gynecologic or obstetric disease +GARD:0005068,GARD:0022531,GARD:0020523,GARD:0015083,Rare genetic disease +GARD:0005068,GARD:0022515,GARD:0020523,GARD:0015598,Rare cardiac disease +GARD:0005068,GARD:0022531,GARD:0021468,GARD:0015703,Rare genetic disease +GARD:0005068,GARD:0022531,GARD:0021468,GARD:0009159,Rare genetic disease +GARD:0005068,GARD:0022513,GARD:0021468,GARD:0015083,Rare developmental defect during embryogenesis +GARD:0005068,GARD:0022515,GARD:0020523,GARD:0015174,Rare cardiac disease +GARD:0005068,GARD:0022521,GARD:0021468,GARD:0015083,Rare endocrine disease +GARD:0005068,GARD:0022521,GARD:0021468,GARD:0015598,Rare endocrine disease +GARD:0005068,GARD:0022536,GARD:0020523,GARD:0016109,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005068,GARD:0022536,GARD:0020523,GARD:0015083,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005068,GARD:0022536,GARD:0022061,GARD:0009159,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005068,GARD:0022514,GARD:0019408,GARD:0015611,Rare gynecologic or obstetric disease +GARD:0005068,GARD:0022521,GARD:0021468,GARD:0015611,Rare endocrine disease +GARD:0005068,GARD:0022531,GARD:0019408,GARD:0009159,Rare genetic disease +GARD:0005068,GARD:0022514,GARD:0019408,GARD:0015703,Rare gynecologic or obstetric disease +GARD:0005068,GARD:0022536,GARD:0022061,GARD:0015611,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005068,GARD:0022536,GARD:0020523,GARD:0009159,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005068,GARD:0022521,GARD:0021468,GARD:0016109,Rare endocrine disease +GARD:0005068,GARD:0022531,GARD:0020523,GARD:0015598,Rare genetic disease +GARD:0005068,GARD:0022531,GARD:0020523,GARD:0016109,Rare genetic disease +GARD:0005068,GARD:0022521,GARD:0021468,GARD:0015174,Rare endocrine disease +GARD:0005068,GARD:0022531,GARD:0020523,GARD:0009159,Rare genetic disease +GARD:0005068,GARD:0022514,GARD:0019408,GARD:0009159,Rare gynecologic or obstetric disease +GARD:0005068,GARD:0022515,GARD:0020523,GARD:0015703,Rare cardiac disease +GARD:0005068,GARD:0022513,GARD:0021468,GARD:0016109,Rare developmental defect during embryogenesis +GARD:0005068,GARD:0022513,GARD:0021468,GARD:0009159,Rare developmental defect during embryogenesis +GARD:0005068,GARD:0022514,GARD:0019408,GARD:0015598,Rare gynecologic or obstetric disease +GARD:0005068,GARD:0022531,GARD:0020523,GARD:0015611,Rare genetic disease +GARD:0005068,GARD:0022513,GARD:0021468,GARD:0015611,Rare developmental defect during embryogenesis +GARD:0005068,GARD:0022521,GARD:0021468,GARD:0015703,Rare endocrine disease +GARD:0005068,GARD:0022531,GARD:0020523,GARD:0015703,Rare genetic disease +GARD:0005068,GARD:0022531,GARD:0021468,GARD:0015174,Rare genetic disease +GARD:0005068,GARD:0022532,GARD:0021468,GARD:0015703,Rare urogenital disease +GARD:0005068,GARD:0022531,GARD:0021468,GARD:0015598,Rare genetic disease +GARD:0005068,GARD:0022531,GARD:0020523,GARD:0015174,Rare genetic disease +GARD:0005068,GARD:0022531,GARD:0019408,GARD:0016109,Rare genetic disease +GARD:0005068,GARD:0022531,GARD:0019408,GARD:0015083,Rare genetic disease +GARD:0005068,GARD:0022515,GARD:0020523,GARD:0016109,Rare cardiac disease +GARD:0005068,GARD:0022536,GARD:0022061,GARD:0015598,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005068,GARD:0022536,GARD:0020523,GARD:0015598,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005068,GARD:0022513,GARD:0021468,GARD:0015703,Rare developmental defect during embryogenesis +GARD:0005068,GARD:0022531,GARD:0019408,GARD:0015174,Rare genetic disease +GARD:0005068,GARD:0022532,GARD:0021468,GARD:0016109,Rare urogenital disease +GARD:0005068,GARD:0022514,GARD:0019408,GARD:0016109,Rare gynecologic or obstetric disease +GARD:0005068,GARD:0022536,GARD:0022061,GARD:0015703,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005068,GARD:0022515,GARD:0020523,GARD:0015611,Rare cardiac disease +GARD:0005068,GARD:0022536,GARD:0020523,GARD:0015174,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005068,GARD:0022532,GARD:0021468,GARD:0015598,Rare urogenital disease +GARD:0005068,GARD:0022536,GARD:0022061,GARD:0016109,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005068,GARD:0022536,GARD:0020523,GARD:0015611,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005068,GARD:0022514,GARD:0019408,GARD:0015083,Rare gynecologic or obstetric disease +GARD:0005068,GARD:0022531,GARD:0021468,GARD:0016109,Rare genetic disease +GARD:0005068,GARD:0022532,GARD:0021468,GARD:0015174,Rare urogenital disease +GARD:0005068,GARD:0022532,GARD:0021468,GARD:0015083,Rare urogenital disease +GARD:0005068,GARD:0022513,GARD:0021468,GARD:0015174,Rare developmental defect during embryogenesis +GARD:0005068,GARD:0022532,GARD:0021468,GARD:0015611,Rare urogenital disease +GARD:0005068,GARD:0022531,GARD:0019408,GARD:0015611,Rare genetic disease +GARD:0005068,GARD:0022531,GARD:0019408,GARD:0015598,Rare genetic disease +GARD:0005070,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0005074,GARD:0022511,GARD:0021183,,Rare bone disease +GARD:0005074,GARD:0022513,GARD:0021183,,Rare developmental defect during embryogenesis +GARD:0005074,GARD:0022531,GARD:0021183,,Rare genetic disease +GARD:0005077,GARD:0022531,GARD:0019212,,Rare genetic disease +GARD:0005077,GARD:0022511,GARD:0019212,,Rare bone disease +GARD:0005077,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0005077,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0005077,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0005077,GARD:0022513,GARD:0019212,,Rare developmental defect during embryogenesis +GARD:0005081,GARD:0022511,GARD:0019100,GARD:0017357,Rare bone disease +GARD:0005081,GARD:0022531,GARD:0019100,GARD:0021215,Rare genetic disease +GARD:0005081,GARD:0022513,GARD:0019100,GARD:0021214,Rare developmental defect during embryogenesis +GARD:0005081,GARD:0022513,GARD:0019100,GARD:0017357,Rare developmental defect during embryogenesis +GARD:0005081,GARD:0022513,GARD:0019100,GARD:0021216,Rare developmental defect during embryogenesis +GARD:0005081,GARD:0022531,GARD:0019100,GARD:0021216,Rare genetic disease +GARD:0005081,GARD:0022513,GARD:0019100,GARD:0021215,Rare developmental defect during embryogenesis +GARD:0005081,GARD:0022511,GARD:0019100,GARD:0021214,Rare bone disease +GARD:0005081,GARD:0022511,GARD:0019100,GARD:0021215,Rare bone disease +GARD:0005081,GARD:0022531,GARD:0019100,GARD:0017357,Rare genetic disease +GARD:0005081,GARD:0022511,GARD:0019100,GARD:0021216,Rare bone disease +GARD:0005081,GARD:0022531,GARD:0019100,GARD:0021214,Rare genetic disease +GARD:0005084,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0005084,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0005084,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0005087,GARD:0022511,GARD:0019100,GARD:0017358,Rare bone disease +GARD:0005087,GARD:0022531,GARD:0019100,GARD:0017359,Rare genetic disease +GARD:0005087,GARD:0022513,GARD:0019100,GARD:0017360,Rare developmental defect during embryogenesis +GARD:0005087,GARD:0022531,GARD:0019100,GARD:0017360,Rare genetic disease +GARD:0005087,GARD:0022513,GARD:0019100,GARD:0017358,Rare developmental defect during embryogenesis +GARD:0005087,GARD:0022513,GARD:0019100,GARD:0017359,Rare developmental defect during embryogenesis +GARD:0005087,GARD:0022531,GARD:0019100,GARD:0017358,Rare genetic disease +GARD:0005087,GARD:0022511,GARD:0019100,GARD:0017359,Rare bone disease +GARD:0005087,GARD:0022511,GARD:0019100,GARD:0017360,Rare bone disease +GARD:0005088,GARD:0022511,GARD:0019100,,Rare bone disease +GARD:0005088,GARD:0022513,GARD:0019100,,Rare developmental defect during embryogenesis +GARD:0005088,GARD:0022531,GARD:0019100,,Rare genetic disease +GARD:0005089,GARD:0022511,GARD:0019100,,Rare bone disease +GARD:0005089,GARD:0022531,GARD:0019100,,Rare genetic disease +GARD:0005089,GARD:0022513,GARD:0019100,,Rare developmental defect during embryogenesis +GARD:0005090,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0005090,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0005090,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0005091,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0005091,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0005091,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0005091,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0005092,GARD:0022511,GARD:0019207,,Rare bone disease +GARD:0005092,GARD:0022513,GARD:0019207,,Rare developmental defect during embryogenesis +GARD:0005092,GARD:0022531,GARD:0019207,,Rare genetic disease +GARD:0005100,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0005100,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0005100,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0005104,GARD:0022524,GARD:0020369,,Rare neurologic disease +GARD:0005104,GARD:0022508,GARD:0021320,,Rare inborn errors of metabolism +GARD:0005104,GARD:0022531,GARD:0020369,,Rare genetic disease +GARD:0005104,GARD:0022531,GARD:0021320,,Rare genetic disease +GARD:0005104,GARD:0022531,GARD:0020528,,Rare genetic disease +GARD:0005104,GARD:0022515,GARD:0020528,,Rare cardiac disease +GARD:0005104,GARD:0022536,GARD:0020528,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005116,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0005116,GARD:0022531,GARD:0021967,,Rare genetic disease +GARD:0005116,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0005116,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0005116,GARD:0022522,GARD:0021967,,Rare hematologic disease +GARD:0005120,GARD:0022513,GARD:0019197,GARD:0015145,Rare developmental defect during embryogenesis +GARD:0005120,GARD:0022524,GARD:0021450,GARD:0015144,Rare neurologic disease +GARD:0005120,GARD:0022513,GARD:0021450,GARD:0015145,Rare developmental defect during embryogenesis +GARD:0005120,GARD:0022531,GARD:0019197,GARD:0015145,Rare genetic disease +GARD:0005120,GARD:0022520,GARD:0019524,GARD:0015144,Rare ophthalmic disorder +GARD:0005120,GARD:0022511,GARD:0019197,GARD:0015145,Rare bone disease +GARD:0005120,GARD:0022513,GARD:0019197,GARD:0015144,Rare developmental defect during embryogenesis +GARD:0005120,GARD:0022531,GARD:0019524,GARD:0015144,Rare genetic disease +GARD:0005120,GARD:0022524,GARD:0021450,GARD:0015145,Rare neurologic disease +GARD:0005120,GARD:0022520,GARD:0019524,GARD:0015145,Rare ophthalmic disorder +GARD:0005120,GARD:0022531,GARD:0019197,GARD:0015144,Rare genetic disease +GARD:0005120,GARD:0022513,GARD:0021450,GARD:0015144,Rare developmental defect during embryogenesis +GARD:0005120,GARD:0022511,GARD:0019197,GARD:0015144,Rare bone disease +GARD:0005120,GARD:0022531,GARD:0019524,GARD:0015145,Rare genetic disease +GARD:0005120,GARD:0022531,GARD:0021450,GARD:0015144,Rare genetic disease +GARD:0005120,GARD:0022531,GARD:0021450,GARD:0015145,Rare genetic disease +GARD:0005121,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0005121,GARD:0022531,GARD:0021570,,Rare genetic disease +GARD:0005121,GARD:0022511,GARD:0021570,,Rare bone disease +GARD:0005121,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005121,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0005121,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0005121,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005121,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0005121,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0005121,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0005121,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0005121,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0005121,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0005121,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0005121,GARD:0022513,GARD:0021570,,Rare developmental defect during embryogenesis +GARD:0005121,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0005121,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005123,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0005123,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0005124,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0005124,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0005124,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0005124,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0005124,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0005124,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0005124,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0005125,GARD:0022511,GARD:0019207,,Rare bone disease +GARD:0005125,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0005125,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0005125,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0005125,GARD:0022513,GARD:0019207,,Rare developmental defect during embryogenesis +GARD:0005125,GARD:0022531,GARD:0019207,,Rare genetic disease +GARD:0005126,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0005126,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0005128,GARD:0022511,GARD:0021572,,Rare bone disease +GARD:0005128,GARD:0022531,GARD:0020358,,Rare genetic disease +GARD:0005128,GARD:0022513,GARD:0021572,,Rare developmental defect during embryogenesis +GARD:0005128,GARD:0022524,GARD:0020358,,Rare neurologic disease +GARD:0005133,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0005133,GARD:0022531,GARD:0020271,,Rare genetic disease +GARD:0005133,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0005133,GARD:0022510,GARD:0019005,,Rare skin disease +GARD:0005135,GARD:0022531,GARD:0002173,GARD:0015523,Rare genetic disease +GARD:0005135,GARD:0022524,GARD:0002173,GARD:0015523,Rare neurologic disease +GARD:0005138,GARD:0022511,GARD:0021570,,Rare bone disease +GARD:0005138,GARD:0022513,GARD:0021570,,Rare developmental defect during embryogenesis +GARD:0005138,GARD:0022531,GARD:0021570,,Rare genetic disease +GARD:0005140,GARD:0022535,GARD:0019706,GARD:0018836,Rare neoplastic disease +GARD:0005140,GARD:0022536,GARD:0019706,GARD:0021137,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005140,GARD:0022535,GARD:0019706,GARD:0021137,Rare neoplastic disease +GARD:0005140,GARD:0022536,GARD:0019706,GARD:0018836,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005144,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0005144,GARD:0022524,GARD:0019386,,Rare neurologic disease +GARD:0005148,GARD:0022531,GARD:0021179,,Rare genetic disease +GARD:0005148,GARD:0022511,GARD:0021179,,Rare bone disease +GARD:0005148,GARD:0022513,GARD:0021179,,Rare developmental defect during embryogenesis +GARD:0005151,GARD:0022513,GARD:0019348,,Rare developmental defect during embryogenesis +GARD:0005151,GARD:0022531,GARD:0019348,,Rare genetic disease +GARD:0005153,GARD:0022531,GARD:0010248,,Rare genetic disease +GARD:0005153,GARD:0022513,GARD:0020906,,Rare developmental defect during embryogenesis +GARD:0005153,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0005153,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0005153,GARD:0022524,GARD:0010248,,Rare neurologic disease +GARD:0005153,GARD:0022531,GARD:0020906,,Rare genetic disease +GARD:0005158,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0005158,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0005170,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0005170,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0005170,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0005175,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0005175,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0005175,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0005175,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0005175,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0005175,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0005175,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0005175,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0005175,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0005175,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0005175,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0005175,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0005175,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005176,GARD:0022522,GARD:0017267,,Rare hematologic disease +GARD:0005176,GARD:0022531,GARD:0017267,,Rare genetic disease +GARD:0005177,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005177,GARD:0022512,GARD:0019228,,Rare renal disease +GARD:0005177,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005177,GARD:0022531,GARD:0019228,,Rare genetic disease +GARD:0005177,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005177,GARD:0022531,GARD:0020005,,Rare genetic disease +GARD:0005177,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005177,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005177,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0005180,GARD:0022517,GARD:0020248,,Rare respiratory disease +GARD:0005180,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0005180,GARD:0022511,GARD:0016822,,Rare bone disease +GARD:0005180,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0005180,GARD:0022513,GARD:0016822,,Rare developmental defect during embryogenesis +GARD:0005180,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0005180,GARD:0022531,GARD:0016822,,Rare genetic disease +GARD:0005181,GARD:0022534,GARD:0019860,,Rare abdominal surgical disease +GARD:0005181,GARD:0022531,GARD:0019860,,Rare genetic disease +GARD:0005181,GARD:0022513,GARD:0019860,,Rare developmental defect during embryogenesis +GARD:0005181,GARD:0022536,GARD:0019860,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005184,GARD:0022517,GARD:0020249,GARD:0015116,Rare respiratory disease +GARD:0005184,GARD:0022531,GARD:0020311,GARD:0015116,Rare genetic disease +GARD:0005184,GARD:0022513,GARD:0016822,GARD:0015116,Rare developmental defect during embryogenesis +GARD:0005184,GARD:0022531,GARD:0016822,GARD:0015116,Rare genetic disease +GARD:0005184,GARD:0022511,GARD:0016822,GARD:0015116,Rare bone disease +GARD:0005184,GARD:0022517,GARD:0020248,GARD:0015116,Rare respiratory disease +GARD:0005186,GARD:0022531,GARD:0019447,,Rare genetic disease +GARD:0005186,GARD:0022510,GARD:0019447,,Rare skin disease +GARD:0005188,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0005188,GARD:0022531,GARD:0021967,,Rare genetic disease +GARD:0005188,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0005188,GARD:0022522,GARD:0021967,,Rare hematologic disease +GARD:0005188,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0005188,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0005191,GARD:0022522,GARD:0017041,,Rare hematologic disease +GARD:0005191,GARD:0022531,GARD:0017041,,Rare genetic disease +GARD:0005194,GARD:0022522,GARD:0018906,,Rare hematologic disease +GARD:0005195,GARD:0022531,GARD:0020677,,Rare genetic disease +GARD:0005195,GARD:0022522,GARD:0020677,,Rare hematologic disease +GARD:0005199,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0005199,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0005199,GARD:0022513,GARD:0019871,,Rare developmental defect during embryogenesis +GARD:0005199,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0005199,GARD:0022531,GARD:0021728,,Rare genetic disease +GARD:0005201,GARD:0022535,GARD:0019767,GARD:0019695,Rare neoplastic disease +GARD:0005201,GARD:0022535,GARD:0019767,GARD:0019696,Rare neoplastic disease +GARD:0005201,GARD:0022535,GARD:0019767,GARD:0016922,Rare neoplastic disease +GARD:0005202,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0005202,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0005202,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0005202,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0005202,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005202,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0005204,GARD:0022528,GARD:0019973,,Rare otorhinolaryngologic disease +GARD:0005204,GARD:0022513,GARD:0019973,,Rare developmental defect during embryogenesis +GARD:0005204,GARD:0022521,GARD:0019299,,Rare endocrine disease +GARD:0005206,GARD:0022531,GARD:0008488,,Rare genetic disease +GARD:0005206,GARD:0022521,GARD:0008488,,Rare endocrine disease +GARD:0005206,GARD:0022535,GARD:0008488,,Rare neoplastic disease +GARD:0005210,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0005210,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0005210,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0005210,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0005210,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0005210,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0005210,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0005210,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0005216,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0005216,GARD:0022524,GARD:0019433,,Rare neurologic disease +GARD:0005216,GARD:0022509,GARD:0019433,,Rare infectious disease +GARD:0005221,GARD:0022524,GARD:0019923,,Rare neurologic disease +GARD:0005221,GARD:0022513,GARD:0020817,,Rare developmental defect during embryogenesis +GARD:0005221,GARD:0022531,GARD:0019923,,Rare genetic disease +GARD:0005221,GARD:0022531,GARD:0020817,,Rare genetic disease +GARD:0005225,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005225,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0005225,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0005225,GARD:0022531,GARD:0021010,,Rare genetic disease +GARD:0005225,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0005225,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0005225,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0005225,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0005225,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005225,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005230,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0005230,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0005230,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0005231,GARD:0022510,GARD:0021803,,Rare skin disease +GARD:0005231,GARD:0022510,GARD:0021293,,Rare skin disease +GARD:0005231,GARD:0022531,GARD:0021293,,Rare genetic disease +GARD:0005231,GARD:0022531,GARD:0021803,,Rare genetic disease +GARD:0005231,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0005231,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0005231,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0005232,GARD:0022513,GARD:0019196,,Rare developmental defect during embryogenesis +GARD:0005232,GARD:0022531,GARD:0019196,,Rare genetic disease +GARD:0005232,GARD:0022511,GARD:0019196,,Rare bone disease +GARD:0005233,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0005233,GARD:0022513,GARD:0019867,,Rare developmental defect during embryogenesis +GARD:0005233,GARD:0022513,GARD:0020002,,Rare developmental defect during embryogenesis +GARD:0005233,GARD:0022528,GARD:0020002,,Rare otorhinolaryngologic disease +GARD:0005233,GARD:0022518,GARD:0019867,,Rare surgical thoracic disease +GARD:0005235,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0005237,GARD:0022536,GARD:0019860,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005237,GARD:0022531,GARD:0019862,,Rare genetic disease +GARD:0005237,GARD:0022513,GARD:0019860,,Rare developmental defect during embryogenesis +GARD:0005237,GARD:0022534,GARD:0019862,,Rare abdominal surgical disease +GARD:0005237,GARD:0022531,GARD:0019860,,Rare genetic disease +GARD:0005237,GARD:0022534,GARD:0019860,,Rare abdominal surgical disease +GARD:0005237,GARD:0022513,GARD:0019862,,Rare developmental defect during embryogenesis +GARD:0005237,GARD:0022506,GARD:0022019,,Rare hepatic disease +GARD:0005238,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0005238,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005238,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0005238,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005238,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005243,GARD:0022531,GARD:0011972,GARD:0015057,Rare genetic disease +GARD:0005243,GARD:0022531,GARD:0019924,GARD:0016148,Rare genetic disease +GARD:0005243,GARD:0022508,GARD:0011972,GARD:0015057,Rare inborn errors of metabolism +GARD:0005243,GARD:0022524,GARD:0019924,GARD:0016148,Rare neurologic disease +GARD:0005243,GARD:0022508,GARD:0020758,GARD:0000402,Rare inborn errors of metabolism +GARD:0005243,GARD:0022531,GARD:0011972,GARD:0016148,Rare genetic disease +GARD:0005243,GARD:0022524,GARD:0019924,GARD:0000402,Rare neurologic disease +GARD:0005243,GARD:0022531,GARD:0020758,GARD:0000402,Rare genetic disease +GARD:0005243,GARD:0022524,GARD:0019924,GARD:0015057,Rare neurologic disease +GARD:0005243,GARD:0022531,GARD:0020758,GARD:0015057,Rare genetic disease +GARD:0005243,GARD:0022531,GARD:0011972,GARD:0000402,Rare genetic disease +GARD:0005243,GARD:0022520,GARD:0011972,GARD:0000402,Rare ophthalmic disorder +GARD:0005243,GARD:0022531,GARD:0020758,GARD:0016148,Rare genetic disease +GARD:0005243,GARD:0022531,GARD:0019924,GARD:0000402,Rare genetic disease +GARD:0005243,GARD:0022520,GARD:0011972,GARD:0016148,Rare ophthalmic disorder +GARD:0005243,GARD:0022520,GARD:0011972,GARD:0015057,Rare ophthalmic disorder +GARD:0005243,GARD:0022508,GARD:0011972,GARD:0000402,Rare inborn errors of metabolism +GARD:0005243,GARD:0022508,GARD:0011972,GARD:0016148,Rare inborn errors of metabolism +GARD:0005243,GARD:0022508,GARD:0020758,GARD:0016148,Rare inborn errors of metabolism +GARD:0005243,GARD:0022508,GARD:0020758,GARD:0015057,Rare inborn errors of metabolism +GARD:0005243,GARD:0022531,GARD:0019924,GARD:0015057,Rare genetic disease +GARD:0005250,GARD:0022524,GARD:0020379,,Rare neurologic disease +GARD:0005250,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0005258,GARD:0022506,GARD:0019789,GARD:0015819,Rare hepatic disease +GARD:0005258,GARD:0022531,GARD:0020117,GARD:0015819,Rare genetic disease +GARD:0005258,GARD:0022531,GARD:0021957,GARD:0015819,Rare genetic disease +GARD:0005258,GARD:0022523,GARD:0020117,GARD:0015819,Rare immune disease +GARD:0005258,GARD:0022531,GARD:0021546,GARD:0015819,Rare genetic disease +GARD:0005258,GARD:0022531,GARD:0020005,GARD:0015819,Rare genetic disease +GARD:0005258,GARD:0022516,GARD:0018918,GARD:0015819,Rare gastroenterologic disease +GARD:0005258,GARD:0022525,GARD:0021957,GARD:0015819,Rare systemic or rheumatologic disease +GARD:0005258,GARD:0021079,GARD:0021986,GARD:0015819,Rare systemic or rheumatological disease of childhood +GARD:0005258,GARD:0022536,GARD:0018918,GARD:0015819,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005261,GARD:0022531,GARD:0018998,,Rare genetic disease +GARD:0005261,GARD:0022510,GARD:0018998,,Rare skin disease +GARD:0005263,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0005263,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0005266,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0005266,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0005266,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0005266,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0005266,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005266,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005266,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0005266,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005267,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0005267,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0005267,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0005267,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0005267,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0005267,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0005270,GARD:0022513,GARD:0012109,,Rare developmental defect during embryogenesis +GARD:0005270,GARD:0022531,GARD:0012109,,Rare genetic disease +GARD:0005270,GARD:0022510,GARD:0012109,,Rare skin disease +GARD:0005270,GARD:0022529,GARD:0012109,,Rare infertility +GARD:0005270,GARD:0022524,GARD:0012109,,Rare neurologic disease +GARD:0005270,GARD:0022520,GARD:0012109,,Rare ophthalmic disorder +GARD:0005271,GARD:0022513,GARD:0012109,,Rare developmental defect during embryogenesis +GARD:0005271,GARD:0022520,GARD:0012109,,Rare ophthalmic disorder +GARD:0005271,GARD:0022510,GARD:0012109,,Rare skin disease +GARD:0005271,GARD:0022531,GARD:0012109,,Rare genetic disease +GARD:0005271,GARD:0022529,GARD:0012109,,Rare infertility +GARD:0005271,GARD:0022524,GARD:0012109,,Rare neurologic disease +GARD:0005274,GARD:0022513,GARD:0019555,,Rare developmental defect during embryogenesis +GARD:0005274,GARD:0022519,GARD:0019555,,Rare surgical cardiac disease +GARD:0005279,GARD:0022524,GARD:0019820,GARD:0015189,Rare neurologic disease +GARD:0005279,GARD:0022524,GARD:0019820,GARD:0015817,Rare neurologic disease +GARD:0005279,GARD:0022520,GARD:0019507,GARD:0015817,Rare ophthalmic disorder +GARD:0005279,GARD:0022531,GARD:0019820,GARD:0015817,Rare genetic disease +GARD:0005279,GARD:0022531,GARD:0019507,GARD:0015189,Rare genetic disease +GARD:0005279,GARD:0022520,GARD:0019507,GARD:0015189,Rare ophthalmic disorder +GARD:0005279,GARD:0022513,GARD:0019820,GARD:0015189,Rare developmental defect during embryogenesis +GARD:0005279,GARD:0022513,GARD:0019507,GARD:0015189,Rare developmental defect during embryogenesis +GARD:0005279,GARD:0022531,GARD:0019820,GARD:0015189,Rare genetic disease +GARD:0005279,GARD:0022513,GARD:0019507,GARD:0015817,Rare developmental defect during embryogenesis +GARD:0005279,GARD:0022531,GARD:0019507,GARD:0015817,Rare genetic disease +GARD:0005279,GARD:0022513,GARD:0019820,GARD:0015817,Rare developmental defect during embryogenesis +GARD:0005286,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0005286,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0005287,GARD:0022522,GARD:0019460,,Rare hematologic disease +GARD:0005287,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0005287,GARD:0022524,GARD:0020554,,Rare neurologic disease +GARD:0005287,GARD:0022531,GARD:0020554,,Rare genetic disease +GARD:0005287,GARD:0022531,GARD:0019460,,Rare genetic disease +GARD:0005287,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0005287,GARD:0022531,GARD:0021306,,Rare genetic disease +GARD:0005287,GARD:0022508,GARD:0021306,,Rare inborn errors of metabolism +GARD:0005289,GARD:0022531,GARD:0022026,,Rare genetic disease +GARD:0005289,GARD:0022511,GARD:0022026,,Rare bone disease +GARD:0005289,GARD:0022513,GARD:0022026,,Rare developmental defect during embryogenesis +GARD:0005290,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0005290,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0005290,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0005295,GARD:0022531,GARD:0019348,,Rare genetic disease +GARD:0005295,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0005295,GARD:0022513,GARD:0019348,,Rare developmental defect during embryogenesis +GARD:0005295,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0005295,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0005295,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0005299,GARD:0022513,GARD:0020867,,Rare developmental defect during embryogenesis +GARD:0005299,GARD:0022531,GARD:0020867,,Rare genetic disease +GARD:0005304,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0005304,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0005305,GARD:0022531,GARD:0020853,,Rare genetic disease +GARD:0005305,GARD:0022513,GARD:0020853,,Rare developmental defect during embryogenesis +GARD:0005313,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0005313,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0005317,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0005317,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0005318,GARD:0022513,GARD:0020870,,Rare developmental defect during embryogenesis +GARD:0005318,GARD:0022531,GARD:0020870,,Rare genetic disease +GARD:0005323,GARD:0022531,GARD:0020871,,Rare genetic disease +GARD:0005323,GARD:0022513,GARD:0020871,,Rare developmental defect during embryogenesis +GARD:0005331,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0005331,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0005333,GARD:0022531,GARD:0020858,,Rare genetic disease +GARD:0005333,GARD:0022513,GARD:0020858,,Rare developmental defect during embryogenesis +GARD:0005342,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0005342,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0005354,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0005354,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0005359,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0005359,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0005362,GARD:0022531,GARD:0020879,,Rare genetic disease +GARD:0005362,GARD:0022513,GARD:0020879,,Rare developmental defect during embryogenesis +GARD:0005372,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0005372,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0005372,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0005372,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0005388,GARD:0022531,GARD:0021127,,Rare genetic disease +GARD:0005388,GARD:0022508,GARD:0021127,,Rare inborn errors of metabolism +GARD:0005392,GARD:0022520,GARD:0002424,GARD:0017393,Rare ophthalmic disorder +GARD:0005392,GARD:0022531,GARD:0019790,GARD:0017392,Rare genetic disease +GARD:0005392,GARD:0022508,GARD:0002424,GARD:0017392,Rare inborn errors of metabolism +GARD:0005392,GARD:0022506,GARD:0019790,GARD:0017393,Rare hepatic disease +GARD:0005392,GARD:0022512,GARD:0002424,GARD:0017392,Rare renal disease +GARD:0005392,GARD:0022531,GARD:0019790,GARD:0017393,Rare genetic disease +GARD:0005392,GARD:0022508,GARD:0002424,GARD:0017393,Rare inborn errors of metabolism +GARD:0005392,GARD:0022520,GARD:0002424,GARD:0017392,Rare ophthalmic disorder +GARD:0005392,GARD:0022506,GARD:0019790,GARD:0017392,Rare hepatic disease +GARD:0005392,GARD:0022531,GARD:0002424,GARD:0017392,Rare genetic disease +GARD:0005392,GARD:0022531,GARD:0002424,GARD:0017393,Rare genetic disease +GARD:0005392,GARD:0022512,GARD:0002424,GARD:0017393,Rare renal disease +GARD:0005393,GARD:0022515,GARD:0020534,,Rare cardiac disease +GARD:0005394,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005394,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0005394,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0005394,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0005394,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005394,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005394,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005395,GARD:0022531,GARD:0018694,,Rare genetic disease +GARD:0005395,GARD:0022510,GARD:0018694,,Rare skin disease +GARD:0005398,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005398,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005398,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0005398,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0005398,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005398,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0005400,GARD:0022511,GARD:0021187,,Rare bone disease +GARD:0005400,GARD:0022531,GARD:0021187,,Rare genetic disease +GARD:0005400,GARD:0022513,GARD:0021187,,Rare developmental defect during embryogenesis +GARD:0005403,GARD:0022534,GARD:0019860,,Rare abdominal surgical disease +GARD:0005403,GARD:0022513,GARD:0019860,,Rare developmental defect during embryogenesis +GARD:0005403,GARD:0022531,GARD:0019860,,Rare genetic disease +GARD:0005403,GARD:0022536,GARD:0019860,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005404,GARD:0022510,GARD:0018997,GARD:0015122,Rare skin disease +GARD:0005404,GARD:0022531,GARD:0018997,GARD:0015122,Rare genetic disease +GARD:0005404,GARD:0022510,GARD:0018997,GARD:0016217,Rare skin disease +GARD:0005404,GARD:0022531,GARD:0018997,GARD:0016216,Rare genetic disease +GARD:0005404,GARD:0022531,GARD:0018997,GARD:0016217,Rare genetic disease +GARD:0005404,GARD:0022510,GARD:0018997,GARD:0016216,Rare skin disease +GARD:0005408,GARD:0022531,GARD:0020836,,Rare genetic disease +GARD:0005408,GARD:0022536,GARD:0007866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005408,GARD:0022513,GARD:0007866,,Rare developmental defect during embryogenesis +GARD:0005408,GARD:0022535,GARD:0007866,,Rare neoplastic disease +GARD:0005408,GARD:0022512,GARD:0007866,,Rare renal disease +GARD:0005408,GARD:0022510,GARD:0007866,,Rare skin disease +GARD:0005408,GARD:0022513,GARD:0020836,,Rare developmental defect during embryogenesis +GARD:0005408,GARD:0022520,GARD:0007866,,Rare ophthalmic disorder +GARD:0005408,GARD:0022524,GARD:0007866,,Rare neurologic disease +GARD:0005408,GARD:0022511,GARD:0007866,,Rare bone disease +GARD:0005408,GARD:0022527,GARD:0007866,,Rare circulatory system disease +GARD:0005408,GARD:0022531,GARD:0007866,,Rare genetic disease +GARD:0005409,GARD:0022531,GARD:0019425,,Rare genetic disease +GARD:0005409,GARD:0022513,GARD:0019425,,Rare developmental defect during embryogenesis +GARD:0005409,GARD:0022524,GARD:0017219,,Rare neurologic disease +GARD:0005409,GARD:0022531,GARD:0017219,,Rare genetic disease +GARD:0005409,GARD:0022513,GARD:0017219,,Rare developmental defect during embryogenesis +GARD:0005421,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0005421,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0005421,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0005425,GARD:0022536,GARD:0021814,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005425,GARD:0022513,GARD:0021814,,Rare developmental defect during embryogenesis +GARD:0005425,GARD:0022512,GARD:0021814,,Rare renal disease +GARD:0005425,GARD:0022532,GARD:0021814,,Rare urogenital disease +GARD:0005426,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005426,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005426,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005427,GARD:0022531,GARD:0020278,,Rare genetic disease +GARD:0005427,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0005427,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0005427,GARD:0022510,GARD:0019019,,Rare skin disease +GARD:0005429,GARD:0022531,GARD:0018967,,Rare genetic disease +GARD:0005429,GARD:0022531,GARD:0019464,,Rare genetic disease +GARD:0005429,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0005429,GARD:0022508,GARD:0018967,,Rare inborn errors of metabolism +GARD:0005429,GARD:0022522,GARD:0019464,,Rare hematologic disease +GARD:0005429,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0005430,GARD:0022527,GARD:0022298,,Rare circulatory system disease +GARD:0005430,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0005430,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0005430,GARD:0022513,GARD:0022298,,Rare developmental defect during embryogenesis +GARD:0005430,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0005430,GARD:0022510,GARD:0022298,,Rare skin disease +GARD:0005430,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0005430,GARD:0022531,GARD:0022298,,Rare genetic disease +GARD:0005430,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0005435,GARD:0022528,GARD:0007843,GARD:0005436,Rare otorhinolaryngologic disease +GARD:0005435,GARD:0022520,GARD:0007843,GARD:0015890,Rare ophthalmic disorder +GARD:0005435,GARD:0022531,GARD:0007843,GARD:0005439,Rare genetic disease +GARD:0005435,GARD:0022520,GARD:0007843,GARD:0015404,Rare ophthalmic disorder +GARD:0005435,GARD:0022520,GARD:0007843,GARD:0015573,Rare ophthalmic disorder +GARD:0005435,GARD:0022513,GARD:0007843,GARD:0016370,Rare developmental defect during embryogenesis +GARD:0005435,GARD:0022531,GARD:0007843,GARD:0005436,Rare genetic disease +GARD:0005435,GARD:0022528,GARD:0007843,GARD:0016370,Rare otorhinolaryngologic disease +GARD:0005435,GARD:0022528,GARD:0007843,GARD:0015863,Rare otorhinolaryngologic disease +GARD:0005435,GARD:0022520,GARD:0007843,GARD:0005437,Rare ophthalmic disorder +GARD:0005435,GARD:0022531,GARD:0007843,GARD:0015404,Rare genetic disease +GARD:0005435,GARD:0022531,GARD:0007843,GARD:0015890,Rare genetic disease +GARD:0005435,GARD:0022531,GARD:0007843,GARD:0015863,Rare genetic disease +GARD:0005435,GARD:0022513,GARD:0007843,GARD:0015863,Rare developmental defect during embryogenesis +GARD:0005435,GARD:0022513,GARD:0007843,GARD:0005436,Rare developmental defect during embryogenesis +GARD:0005435,GARD:0022520,GARD:0007843,GARD:0010043,Rare ophthalmic disorder +GARD:0005435,GARD:0022513,GARD:0007843,GARD:0015890,Rare developmental defect during embryogenesis +GARD:0005435,GARD:0022520,GARD:0007843,GARD:0015863,Rare ophthalmic disorder +GARD:0005435,GARD:0022531,GARD:0007843,GARD:0015573,Rare genetic disease +GARD:0005435,GARD:0022513,GARD:0007843,GARD:0015404,Rare developmental defect during embryogenesis +GARD:0005435,GARD:0022531,GARD:0007843,GARD:0005437,Rare genetic disease +GARD:0005435,GARD:0022520,GARD:0007843,GARD:0016370,Rare ophthalmic disorder +GARD:0005435,GARD:0022528,GARD:0007843,GARD:0015890,Rare otorhinolaryngologic disease +GARD:0005435,GARD:0022513,GARD:0007843,GARD:0010043,Rare developmental defect during embryogenesis +GARD:0005435,GARD:0022528,GARD:0007843,GARD:0015404,Rare otorhinolaryngologic disease +GARD:0005435,GARD:0022528,GARD:0007843,GARD:0005438,Rare otorhinolaryngologic disease +GARD:0005435,GARD:0022528,GARD:0007843,GARD:0005437,Rare otorhinolaryngologic disease +GARD:0005435,GARD:0022528,GARD:0007843,GARD:0005439,Rare otorhinolaryngologic disease +GARD:0005435,GARD:0022531,GARD:0007843,GARD:0005438,Rare genetic disease +GARD:0005435,GARD:0022513,GARD:0007843,GARD:0005437,Rare developmental defect during embryogenesis +GARD:0005435,GARD:0022528,GARD:0007843,GARD:0015573,Rare otorhinolaryngologic disease +GARD:0005435,GARD:0022531,GARD:0007843,GARD:0010043,Rare genetic disease +GARD:0005435,GARD:0022520,GARD:0007843,GARD:0005436,Rare ophthalmic disorder +GARD:0005435,GARD:0022520,GARD:0007843,GARD:0005438,Rare ophthalmic disorder +GARD:0005435,GARD:0022513,GARD:0007843,GARD:0005439,Rare developmental defect during embryogenesis +GARD:0005435,GARD:0022531,GARD:0007843,GARD:0016370,Rare genetic disease +GARD:0005435,GARD:0022520,GARD:0007843,GARD:0005439,Rare ophthalmic disorder +GARD:0005435,GARD:0022528,GARD:0007843,GARD:0010043,Rare otorhinolaryngologic disease +GARD:0005435,GARD:0022513,GARD:0007843,GARD:0005438,Rare developmental defect during embryogenesis +GARD:0005435,GARD:0022513,GARD:0007843,GARD:0015573,Rare developmental defect during embryogenesis +GARD:0005436,GARD:0022528,GARD:0005435,,Rare otorhinolaryngologic disease +GARD:0005436,GARD:0022513,GARD:0005435,,Rare developmental defect during embryogenesis +GARD:0005436,GARD:0022520,GARD:0005435,,Rare ophthalmic disorder +GARD:0005436,GARD:0022531,GARD:0005435,,Rare genetic disease +GARD:0005437,GARD:0022513,GARD:0005435,,Rare developmental defect during embryogenesis +GARD:0005437,GARD:0022528,GARD:0005435,,Rare otorhinolaryngologic disease +GARD:0005437,GARD:0022531,GARD:0005435,,Rare genetic disease +GARD:0005437,GARD:0022520,GARD:0005435,,Rare ophthalmic disorder +GARD:0005438,GARD:0022528,GARD:0005435,,Rare otorhinolaryngologic disease +GARD:0005438,GARD:0022520,GARD:0005435,,Rare ophthalmic disorder +GARD:0005438,GARD:0022513,GARD:0005435,,Rare developmental defect during embryogenesis +GARD:0005438,GARD:0022531,GARD:0005435,,Rare genetic disease +GARD:0005439,GARD:0022528,GARD:0005435,,Rare otorhinolaryngologic disease +GARD:0005439,GARD:0022513,GARD:0005435,,Rare developmental defect during embryogenesis +GARD:0005439,GARD:0022531,GARD:0005435,,Rare genetic disease +GARD:0005439,GARD:0022520,GARD:0005435,,Rare ophthalmic disorder +GARD:0005440,GARD:0022531,GARD:0007843,GARD:0015241,Rare genetic disease +GARD:0005440,GARD:0022531,GARD:0007843,GARD:0008497,Rare genetic disease +GARD:0005440,GARD:0022528,GARD:0007843,GARD:0015241,Rare otorhinolaryngologic disease +GARD:0005440,GARD:0022513,GARD:0007843,GARD:0015241,Rare developmental defect during embryogenesis +GARD:0005440,GARD:0022513,GARD:0007843,GARD:0008497,Rare developmental defect during embryogenesis +GARD:0005440,GARD:0022528,GARD:0007843,GARD:0015514,Rare otorhinolaryngologic disease +GARD:0005440,GARD:0022528,GARD:0007843,GARD:0008497,Rare otorhinolaryngologic disease +GARD:0005440,GARD:0022531,GARD:0007843,GARD:0015514,Rare genetic disease +GARD:0005440,GARD:0022513,GARD:0007843,GARD:0015514,Rare developmental defect during embryogenesis +GARD:0005440,GARD:0022520,GARD:0007843,GARD:0015241,Rare ophthalmic disorder +GARD:0005440,GARD:0022520,GARD:0007843,GARD:0015514,Rare ophthalmic disorder +GARD:0005440,GARD:0022520,GARD:0007843,GARD:0008497,Rare ophthalmic disorder +GARD:0005442,GARD:0022528,GARD:0007843,GARD:0015813,Rare otorhinolaryngologic disease +GARD:0005442,GARD:0022513,GARD:0007843,GARD:0015242,Rare developmental defect during embryogenesis +GARD:0005442,GARD:0022531,GARD:0007843,GARD:0004684,Rare genetic disease +GARD:0005442,GARD:0022528,GARD:0007843,GARD:0004684,Rare otorhinolaryngologic disease +GARD:0005442,GARD:0022513,GARD:0007843,GARD:0004684,Rare developmental defect during embryogenesis +GARD:0005442,GARD:0022520,GARD:0007843,GARD:0004684,Rare ophthalmic disorder +GARD:0005442,GARD:0022528,GARD:0007843,GARD:0015242,Rare otorhinolaryngologic disease +GARD:0005442,GARD:0022520,GARD:0007843,GARD:0015242,Rare ophthalmic disorder +GARD:0005442,GARD:0022513,GARD:0007843,GARD:0015813,Rare developmental defect during embryogenesis +GARD:0005442,GARD:0022520,GARD:0007843,GARD:0015813,Rare ophthalmic disorder +GARD:0005442,GARD:0022531,GARD:0007843,GARD:0015813,Rare genetic disease +GARD:0005442,GARD:0022531,GARD:0007843,GARD:0015242,Rare genetic disease +GARD:0005443,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0005443,GARD:0022513,GARD:0019856,,Rare developmental defect during embryogenesis +GARD:0005443,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005443,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005443,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0005443,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0005443,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0005443,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0005443,GARD:0022534,GARD:0019856,,Rare abdominal surgical disease +GARD:0005443,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0005443,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0005445,GARD:0022531,GARD:0019218,GARD:0004737,Rare genetic disease +GARD:0005445,GARD:0022513,GARD:0020172,GARD:0004737,Rare developmental defect during embryogenesis +GARD:0005445,GARD:0022514,GARD:0020172,GARD:0004737,Rare gynecologic or obstetric disease +GARD:0005445,GARD:0022513,GARD:0020172,GARD:0005513,Rare developmental defect during embryogenesis +GARD:0005445,GARD:0022531,GARD:0020172,GARD:0005513,Rare genetic disease +GARD:0005445,GARD:0022512,GARD:0019218,GARD:0005513,Rare renal disease +GARD:0005445,GARD:0022532,GARD:0020172,GARD:0004737,Rare urogenital disease +GARD:0005445,GARD:0022532,GARD:0020172,GARD:0005513,Rare urogenital disease +GARD:0005445,GARD:0022529,GARD:0021684,GARD:0005513,Rare infertility +GARD:0005445,GARD:0022536,GARD:0019218,GARD:0005513,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005445,GARD:0022536,GARD:0019218,GARD:0004737,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005445,GARD:0022513,GARD:0019218,GARD:0005513,Rare developmental defect during embryogenesis +GARD:0005445,GARD:0022531,GARD:0021694,GARD:0005513,Rare genetic disease +GARD:0005445,GARD:0022536,GARD:0020172,GARD:0005513,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005445,GARD:0022536,GARD:0020172,GARD:0004737,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005445,GARD:0022531,GARD:0021694,GARD:0004737,Rare genetic disease +GARD:0005445,GARD:0022513,GARD:0019218,GARD:0004737,Rare developmental defect during embryogenesis +GARD:0005445,GARD:0022512,GARD:0019218,GARD:0004737,Rare renal disease +GARD:0005445,GARD:0022514,GARD:0020172,GARD:0005513,Rare gynecologic or obstetric disease +GARD:0005445,GARD:0022529,GARD:0021684,GARD:0004737,Rare infertility +GARD:0005445,GARD:0022531,GARD:0019218,GARD:0005513,Rare genetic disease +GARD:0005445,GARD:0022531,GARD:0020172,GARD:0004737,Rare genetic disease +GARD:0005447,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0005447,GARD:0022513,GARD:0021594,,Rare developmental defect during embryogenesis +GARD:0005447,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0005447,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0005447,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0005447,GARD:0022533,GARD:0021594,,Rare disorder due to toxic effects +GARD:0005447,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0005447,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0005447,GARD:0022505,GARD:0021594,,Rare teratologic disease +GARD:0005453,GARD:0022520,GARD:0022106,,Rare ophthalmic disorder +GARD:0005453,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005453,GARD:0022531,GARD:0020263,,Rare genetic disease +GARD:0005453,GARD:0022510,GARD:0018987,,Rare skin disease +GARD:0005453,GARD:0022531,GARD:0022106,,Rare genetic disease +GARD:0005453,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005453,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005456,GARD:0022531,GARD:0022441,GARD:0015984,Rare genetic disease +GARD:0005456,GARD:0022513,GARD:0019832,GARD:0015984,Rare developmental defect during embryogenesis +GARD:0005456,GARD:0022524,GARD:0019832,GARD:0015984,Rare neurologic disease +GARD:0005461,GARD:0022531,GARD:0021688,GARD:0015243,Rare genetic disease +GARD:0005461,GARD:0022531,GARD:0020009,GARD:0015279,Rare genetic disease +GARD:0005461,GARD:0022529,GARD:0019446,GARD:0015279,Rare infertility +GARD:0005461,GARD:0022531,GARD:0020009,GARD:0015243,Rare genetic disease +GARD:0005461,GARD:0022529,GARD:0019446,GARD:0015243,Rare infertility +GARD:0005461,GARD:0022532,GARD:0020252,GARD:0015279,Rare urogenital disease +GARD:0005461,GARD:0022531,GARD:0021688,GARD:0015279,Rare genetic disease +GARD:0005461,GARD:0022532,GARD:0020252,GARD:0015243,Rare urogenital disease +GARD:0005461,GARD:0022536,GARD:0020252,GARD:0015279,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005461,GARD:0022513,GARD:0020252,GARD:0015279,Rare developmental defect during embryogenesis +GARD:0005461,GARD:0022513,GARD:0020252,GARD:0015243,Rare developmental defect during embryogenesis +GARD:0005461,GARD:0022536,GARD:0020252,GARD:0015243,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005467,GARD:0022524,GARD:0019819,GARD:0016307,Rare neurologic disease +GARD:0005467,GARD:0022531,GARD:0021614,GARD:0016307,Rare genetic disease +GARD:0005467,GARD:0022527,GARD:0020464,GARD:0016307,Rare circulatory system disease +GARD:0005467,GARD:0022531,GARD:0020459,GARD:0016307,Rare genetic disease +GARD:0005467,GARD:0022513,GARD:0020464,GARD:0016307,Rare developmental defect during embryogenesis +GARD:0005469,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0005469,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0005469,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0005469,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0005469,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0005469,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0005470,GARD:0022513,GARD:0020001,,Rare developmental defect during embryogenesis +GARD:0005470,GARD:0022528,GARD:0020001,,Rare otorhinolaryngologic disease +GARD:0005470,GARD:0022531,GARD:0021811,,Rare genetic disease +GARD:0005472,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0005472,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0005472,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0005472,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0005472,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0005472,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0005476,GARD:0022531,GARD:0021016,GARD:0020503,Rare genetic disease +GARD:0005476,GARD:0022519,GARD:0007795,GARD:0020503,Rare surgical cardiac disease +GARD:0005476,GARD:0022519,GARD:0007795,GARD:0020502,Rare surgical cardiac disease +GARD:0005476,GARD:0022531,GARD:0021016,GARD:0019614,Rare genetic disease +GARD:0005476,GARD:0022513,GARD:0007795,GARD:0020503,Rare developmental defect during embryogenesis +GARD:0005476,GARD:0022513,GARD:0007795,GARD:0019614,Rare developmental defect during embryogenesis +GARD:0005476,GARD:0022531,GARD:0021016,GARD:0020502,Rare genetic disease +GARD:0005476,GARD:0022513,GARD:0007795,GARD:0020502,Rare developmental defect during embryogenesis +GARD:0005476,GARD:0022519,GARD:0007795,GARD:0019614,Rare surgical cardiac disease +GARD:0005478,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0005478,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0005478,GARD:0022513,GARD:0010903,,Rare developmental defect during embryogenesis +GARD:0005478,GARD:0022511,GARD:0010903,,Rare bone disease +GARD:0005478,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0005478,GARD:0022531,GARD:0010903,,Rare genetic disease +GARD:0005481,GARD:0022531,GARD:0022093,,Rare genetic disease +GARD:0005481,GARD:0022513,GARD:0022093,,Rare developmental defect during embryogenesis +GARD:0005481,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0005481,GARD:0022520,GARD:0022093,,Rare ophthalmic disorder +GARD:0005481,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0005481,GARD:0022520,GARD:0022092,,Rare ophthalmic disorder +GARD:0005481,GARD:0022513,GARD:0022092,,Rare developmental defect during embryogenesis +GARD:0005481,GARD:0022531,GARD:0022173,,Rare genetic disease +GARD:0005482,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0005482,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0005482,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0005482,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0005482,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0005482,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0005484,GARD:0022510,GARD:0003259,,Rare skin disease +GARD:0005484,GARD:0022535,GARD:0003259,,Rare neoplastic disease +GARD:0005485,GARD:0022510,GARD:0003259,,Rare skin disease +GARD:0005485,GARD:0022535,GARD:0003259,,Rare neoplastic disease +GARD:0005488,GARD:0022513,GARD:0021181,GARD:0021218,Rare developmental defect during embryogenesis +GARD:0005488,GARD:0022513,GARD:0021181,GARD:0021217,Rare developmental defect during embryogenesis +GARD:0005488,GARD:0022531,GARD:0021181,GARD:0021218,Rare genetic disease +GARD:0005488,GARD:0022531,GARD:0021181,GARD:0021217,Rare genetic disease +GARD:0005490,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0005490,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0005490,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0005490,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005490,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005490,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0005490,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0005490,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0021412,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0000069,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0021410,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0021413,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0021411,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0019690,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0018689,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0019688,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0021416,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0008254,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0021414,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0008257,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0021415,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0002035,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0007914,Rare infectious disease +GARD:0005494,GARD:0022509,GARD:0020045,GARD:0009444,Rare infectious disease +GARD:0005495,GARD:0022535,GARD:0018816,,Rare neoplastic disease +GARD:0005495,GARD:0022514,GARD:0018816,,Rare gynecologic or obstetric disease +GARD:0005496,GARD:0022536,GARD:0019846,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005496,GARD:0022531,GARD:0022158,,Rare genetic disease +GARD:0005496,GARD:0022520,GARD:0022118,,Rare ophthalmic disorder +GARD:0005496,GARD:0022531,GARD:0019846,,Rare genetic disease +GARD:0005496,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0005496,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0005496,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0005496,GARD:0022516,GARD:0019846,,Rare gastroenterologic disease +GARD:0005500,GARD:0022508,GARD:0012623,,Rare inborn errors of metabolism +GARD:0005500,GARD:0022531,GARD:0012623,,Rare genetic disease +GARD:0005500,GARD:0022512,GARD:0012623,,Rare renal disease +GARD:0005500,GARD:0022536,GARD:0012623,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005507,GARD:0022531,GARD:0022093,,Rare genetic disease +GARD:0005507,GARD:0022520,GARD:0022098,,Rare ophthalmic disorder +GARD:0005507,GARD:0022531,GARD:0022098,,Rare genetic disease +GARD:0005507,GARD:0022520,GARD:0022093,,Rare ophthalmic disorder +GARD:0005507,GARD:0022513,GARD:0022093,,Rare developmental defect during embryogenesis +GARD:0005508,GARD:0022508,GARD:0021318,,Rare inborn errors of metabolism +GARD:0005508,GARD:0022531,GARD:0020369,,Rare genetic disease +GARD:0005508,GARD:0022515,GARD:0020522,,Rare cardiac disease +GARD:0005508,GARD:0022536,GARD:0020522,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005508,GARD:0022531,GARD:0020522,,Rare genetic disease +GARD:0005508,GARD:0022524,GARD:0020369,,Rare neurologic disease +GARD:0005508,GARD:0022531,GARD:0021318,,Rare genetic disease +GARD:0005509,GARD:0022531,GARD:0021811,,Rare genetic disease +GARD:0005509,GARD:0022528,GARD:0020001,,Rare otorhinolaryngologic disease +GARD:0005509,GARD:0022513,GARD:0020001,,Rare developmental defect during embryogenesis +GARD:0005513,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0005513,GARD:0022529,GARD:0005445,,Rare infertility +GARD:0005513,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0005513,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005513,GARD:0022514,GARD:0005445,,Rare gynecologic or obstetric disease +GARD:0005513,GARD:0022536,GARD:0005445,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005513,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0005513,GARD:0022531,GARD:0005445,,Rare genetic disease +GARD:0005513,GARD:0022512,GARD:0005445,,Rare renal disease +GARD:0005513,GARD:0022513,GARD:0005445,,Rare developmental defect during embryogenesis +GARD:0005513,GARD:0022532,GARD:0005445,,Rare urogenital disease +GARD:0005518,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005518,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005518,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005519,GARD:0022513,GARD:0019505,,Rare developmental defect during embryogenesis +GARD:0005519,GARD:0022531,GARD:0005525,,Rare genetic disease +GARD:0005519,GARD:0022510,GARD:0005525,,Rare skin disease +GARD:0005519,GARD:0022531,GARD:0019505,,Rare genetic disease +GARD:0005519,GARD:0022513,GARD:0005525,,Rare developmental defect during embryogenesis +GARD:0005519,GARD:0022528,GARD:0005525,,Rare otorhinolaryngologic disease +GARD:0005519,GARD:0022520,GARD:0019505,,Rare ophthalmic disorder +GARD:0005520,GARD:0022531,GARD:0005525,GARD:0015444,Rare genetic disease +GARD:0005520,GARD:0022528,GARD:0005525,GARD:0015444,Rare otorhinolaryngologic disease +GARD:0005520,GARD:0022510,GARD:0005525,GARD:0015444,Rare skin disease +GARD:0005520,GARD:0022528,GARD:0005525,GARD:0015396,Rare otorhinolaryngologic disease +GARD:0005520,GARD:0022528,GARD:0005525,GARD:0015521,Rare otorhinolaryngologic disease +GARD:0005520,GARD:0022528,GARD:0005525,GARD:0005522,Rare otorhinolaryngologic disease +GARD:0005520,GARD:0022510,GARD:0005525,GARD:0005522,Rare skin disease +GARD:0005520,GARD:0022531,GARD:0005525,GARD:0015396,Rare genetic disease +GARD:0005520,GARD:0022513,GARD:0005525,GARD:0015521,Rare developmental defect during embryogenesis +GARD:0005520,GARD:0022531,GARD:0005525,GARD:0015521,Rare genetic disease +GARD:0005520,GARD:0022513,GARD:0005525,GARD:0005522,Rare developmental defect during embryogenesis +GARD:0005520,GARD:0022513,GARD:0005525,GARD:0015396,Rare developmental defect during embryogenesis +GARD:0005520,GARD:0022531,GARD:0005525,GARD:0005522,Rare genetic disease +GARD:0005520,GARD:0022513,GARD:0005525,GARD:0015444,Rare developmental defect during embryogenesis +GARD:0005520,GARD:0022510,GARD:0005525,GARD:0015521,Rare skin disease +GARD:0005520,GARD:0022510,GARD:0005525,GARD:0015396,Rare skin disease +GARD:0005522,GARD:0022513,GARD:0005520,,Rare developmental defect during embryogenesis +GARD:0005522,GARD:0022510,GARD:0005520,,Rare skin disease +GARD:0005522,GARD:0022528,GARD:0005520,,Rare otorhinolaryngologic disease +GARD:0005522,GARD:0022531,GARD:0005520,,Rare genetic disease +GARD:0005523,GARD:0022513,GARD:0019505,,Rare developmental defect during embryogenesis +GARD:0005523,GARD:0022510,GARD:0005525,,Rare skin disease +GARD:0005523,GARD:0022513,GARD:0005525,,Rare developmental defect during embryogenesis +GARD:0005523,GARD:0022531,GARD:0005525,,Rare genetic disease +GARD:0005523,GARD:0022528,GARD:0005525,,Rare otorhinolaryngologic disease +GARD:0005523,GARD:0022520,GARD:0019505,,Rare ophthalmic disorder +GARD:0005523,GARD:0022531,GARD:0019505,,Rare genetic disease +GARD:0005524,GARD:0022534,GARD:0022248,GARD:0015642,Rare abdominal surgical disease +GARD:0005524,GARD:0022528,GARD:0019145,GARD:0015642,Rare otorhinolaryngologic disease +GARD:0005524,GARD:0022531,GARD:0019145,GARD:0015245,Rare genetic disease +GARD:0005524,GARD:0022531,GARD:0019846,GARD:0015245,Rare genetic disease +GARD:0005524,GARD:0022531,GARD:0019846,GARD:0015642,Rare genetic disease +GARD:0005524,GARD:0022536,GARD:0019846,GARD:0015642,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005524,GARD:0022534,GARD:0022248,GARD:0015641,Rare abdominal surgical disease +GARD:0005524,GARD:0022513,GARD:0022248,GARD:0015641,Rare developmental defect during embryogenesis +GARD:0005524,GARD:0022528,GARD:0019145,GARD:0015245,Rare otorhinolaryngologic disease +GARD:0005524,GARD:0022536,GARD:0022248,GARD:0015641,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005524,GARD:0022536,GARD:0022248,GARD:0015245,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005524,GARD:0022513,GARD:0019145,GARD:0015245,Rare developmental defect during embryogenesis +GARD:0005524,GARD:0022513,GARD:0019145,GARD:0015641,Rare developmental defect during embryogenesis +GARD:0005524,GARD:0022536,GARD:0019846,GARD:0015245,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005524,GARD:0022531,GARD:0019145,GARD:0015642,Rare genetic disease +GARD:0005524,GARD:0022536,GARD:0022248,GARD:0015642,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005524,GARD:0022534,GARD:0022248,GARD:0015245,Rare abdominal surgical disease +GARD:0005524,GARD:0022510,GARD:0019005,GARD:0015642,Rare skin disease +GARD:0005524,GARD:0022531,GARD:0019145,GARD:0015641,Rare genetic disease +GARD:0005524,GARD:0022531,GARD:0020271,GARD:0015245,Rare genetic disease +GARD:0005524,GARD:0022513,GARD:0022248,GARD:0015642,Rare developmental defect during embryogenesis +GARD:0005524,GARD:0022516,GARD:0019846,GARD:0015245,Rare gastroenterologic disease +GARD:0005524,GARD:0022510,GARD:0019005,GARD:0015641,Rare skin disease +GARD:0005524,GARD:0022531,GARD:0022248,GARD:0015642,Rare genetic disease +GARD:0005524,GARD:0022516,GARD:0019846,GARD:0015642,Rare gastroenterologic disease +GARD:0005524,GARD:0022531,GARD:0020271,GARD:0015642,Rare genetic disease +GARD:0005524,GARD:0022528,GARD:0019145,GARD:0015641,Rare otorhinolaryngologic disease +GARD:0005524,GARD:0022536,GARD:0019846,GARD:0015641,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005524,GARD:0022510,GARD:0019005,GARD:0015245,Rare skin disease +GARD:0005524,GARD:0022531,GARD:0022248,GARD:0015245,Rare genetic disease +GARD:0005524,GARD:0022516,GARD:0019846,GARD:0015641,Rare gastroenterologic disease +GARD:0005524,GARD:0022531,GARD:0022248,GARD:0015641,Rare genetic disease +GARD:0005524,GARD:0022531,GARD:0020271,GARD:0015641,Rare genetic disease +GARD:0005524,GARD:0022513,GARD:0022248,GARD:0015245,Rare developmental defect during embryogenesis +GARD:0005524,GARD:0022513,GARD:0019145,GARD:0015642,Rare developmental defect during embryogenesis +GARD:0005524,GARD:0022531,GARD:0019846,GARD:0015641,Rare genetic disease +GARD:0005525,GARD:0022531,GARD:0019904,GARD:0005523,Rare genetic disease +GARD:0005525,GARD:0022531,GARD:0021507,GARD:0005523,Rare genetic disease +GARD:0005525,GARD:0022510,GARD:0019005,GARD:0005519,Rare skin disease +GARD:0005525,GARD:0022513,GARD:0019833,GARD:0005519,Rare developmental defect during embryogenesis +GARD:0005525,GARD:0022513,GARD:0019833,GARD:0005520,Rare developmental defect during embryogenesis +GARD:0005525,GARD:0022531,GARD:0021507,GARD:0005520,Rare genetic disease +GARD:0005525,GARD:0022528,GARD:0019145,GARD:0005520,Rare otorhinolaryngologic disease +GARD:0005525,GARD:0022531,GARD:0020271,GARD:0005523,Rare genetic disease +GARD:0005525,GARD:0022531,GARD:0019145,GARD:0005520,Rare genetic disease +GARD:0005525,GARD:0022510,GARD:0019005,GARD:0005520,Rare skin disease +GARD:0005525,GARD:0022513,GARD:0019904,GARD:0005520,Rare developmental defect during embryogenesis +GARD:0005525,GARD:0022513,GARD:0019833,GARD:0005523,Rare developmental defect during embryogenesis +GARD:0005525,GARD:0022531,GARD:0020271,GARD:0005520,Rare genetic disease +GARD:0005525,GARD:0022513,GARD:0019145,GARD:0005520,Rare developmental defect during embryogenesis +GARD:0005525,GARD:0022531,GARD:0020271,GARD:0005519,Rare genetic disease +GARD:0005525,GARD:0022513,GARD:0019904,GARD:0005523,Rare developmental defect during embryogenesis +GARD:0005525,GARD:0022531,GARD:0021507,GARD:0005519,Rare genetic disease +GARD:0005525,GARD:0022531,GARD:0019145,GARD:0005519,Rare genetic disease +GARD:0005525,GARD:0022531,GARD:0019904,GARD:0005519,Rare genetic disease +GARD:0005525,GARD:0022531,GARD:0019904,GARD:0005520,Rare genetic disease +GARD:0005525,GARD:0022510,GARD:0019005,GARD:0005523,Rare skin disease +GARD:0005525,GARD:0022528,GARD:0019145,GARD:0005523,Rare otorhinolaryngologic disease +GARD:0005525,GARD:0022513,GARD:0019145,GARD:0005523,Rare developmental defect during embryogenesis +GARD:0005525,GARD:0022513,GARD:0019145,GARD:0005519,Rare developmental defect during embryogenesis +GARD:0005525,GARD:0022531,GARD:0019145,GARD:0005523,Rare genetic disease +GARD:0005525,GARD:0022528,GARD:0019145,GARD:0005519,Rare otorhinolaryngologic disease +GARD:0005525,GARD:0022513,GARD:0019904,GARD:0005519,Rare developmental defect during embryogenesis +GARD:0005528,GARD:0022521,GARD:0019411,GARD:0015559,Rare endocrine disease +GARD:0005528,GARD:0022520,GARD:0019524,GARD:0015559,Rare ophthalmic disorder +GARD:0005528,GARD:0022531,GARD:0019411,GARD:0015559,Rare genetic disease +GARD:0005528,GARD:0022513,GARD:0019832,GARD:0015559,Rare developmental defect during embryogenesis +GARD:0005528,GARD:0022513,GARD:0020815,GARD:0015559,Rare developmental defect during embryogenesis +GARD:0005528,GARD:0022531,GARD:0020259,GARD:0015559,Rare genetic disease +GARD:0005528,GARD:0022531,GARD:0020815,GARD:0015559,Rare genetic disease +GARD:0005528,GARD:0022513,GARD:0019218,GARD:0015559,Rare developmental defect during embryogenesis +GARD:0005528,GARD:0022531,GARD:0019218,GARD:0015559,Rare genetic disease +GARD:0005528,GARD:0022520,GARD:0019527,GARD:0015559,Rare ophthalmic disorder +GARD:0005528,GARD:0022520,GARD:0019494,GARD:0015559,Rare ophthalmic disorder +GARD:0005528,GARD:0022512,GARD:0021420,GARD:0015559,Rare renal disease +GARD:0005528,GARD:0022513,GARD:0019494,GARD:0015559,Rare developmental defect during embryogenesis +GARD:0005528,GARD:0022531,GARD:0019494,GARD:0015559,Rare genetic disease +GARD:0005528,GARD:0022535,GARD:0021420,GARD:0015559,Rare neoplastic disease +GARD:0005528,GARD:0022531,GARD:0019524,GARD:0015559,Rare genetic disease +GARD:0005528,GARD:0022536,GARD:0019218,GARD:0015559,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005528,GARD:0022513,GARD:0019411,GARD:0015559,Rare developmental defect during embryogenesis +GARD:0005528,GARD:0022531,GARD:0022170,GARD:0015559,Rare genetic disease +GARD:0005528,GARD:0022524,GARD:0019832,GARD:0015559,Rare neurologic disease +GARD:0005528,GARD:0022531,GARD:0020650,GARD:0015559,Rare genetic disease +GARD:0005528,GARD:0022532,GARD:0019411,GARD:0015559,Rare urogenital disease +GARD:0005528,GARD:0022531,GARD:0022441,GARD:0015559,Rare genetic disease +GARD:0005528,GARD:0022513,GARD:0020650,GARD:0015559,Rare developmental defect during embryogenesis +GARD:0005528,GARD:0022531,GARD:0021479,GARD:0015559,Rare genetic disease +GARD:0005528,GARD:0022514,GARD:0021479,GARD:0015559,Rare gynecologic or obstetric disease +GARD:0005528,GARD:0022531,GARD:0021420,GARD:0015559,Rare genetic disease +GARD:0005528,GARD:0022512,GARD:0019218,GARD:0015559,Rare renal disease +GARD:0005528,GARD:0022535,GARD:0020259,GARD:0015559,Rare neoplastic disease +GARD:0005528,GARD:0022521,GARD:0020650,GARD:0015559,Rare endocrine disease +GARD:0005530,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0005530,GARD:0022531,GARD:0019494,,Rare genetic disease +GARD:0005530,GARD:0022531,GARD:0022173,,Rare genetic disease +GARD:0005530,GARD:0022513,GARD:0022092,,Rare developmental defect during embryogenesis +GARD:0005530,GARD:0022513,GARD:0019494,,Rare developmental defect during embryogenesis +GARD:0005530,GARD:0022520,GARD:0019494,,Rare ophthalmic disorder +GARD:0005530,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005530,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005530,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005530,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0005530,GARD:0022520,GARD:0022092,,Rare ophthalmic disorder +GARD:0005532,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0005532,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0005532,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0005534,GARD:0022524,GARD:0021000,GARD:0015998,Rare neurologic disease +GARD:0005534,GARD:0022513,GARD:0020342,GARD:0015780,Rare developmental defect during embryogenesis +GARD:0005534,GARD:0022531,GARD:0020342,GARD:0015778,Rare genetic disease +GARD:0005534,GARD:0022524,GARD:0021000,GARD:0015778,Rare neurologic disease +GARD:0005534,GARD:0022513,GARD:0021000,GARD:0015778,Rare developmental defect during embryogenesis +GARD:0005534,GARD:0022513,GARD:0020339,GARD:0015998,Rare developmental defect during embryogenesis +GARD:0005534,GARD:0022531,GARD:0022170,GARD:0015998,Rare genetic disease +GARD:0005534,GARD:0022524,GARD:0019820,GARD:0015998,Rare neurologic disease +GARD:0005534,GARD:0022513,GARD:0019820,GARD:0015780,Rare developmental defect during embryogenesis +GARD:0005534,GARD:0022531,GARD:0021010,GARD:0015780,Rare genetic disease +GARD:0005534,GARD:0022513,GARD:0020339,GARD:0015778,Rare developmental defect during embryogenesis +GARD:0005534,GARD:0022520,GARD:0019527,GARD:0015998,Rare ophthalmic disorder +GARD:0005534,GARD:0022520,GARD:0019527,GARD:0015780,Rare ophthalmic disorder +GARD:0005534,GARD:0022524,GARD:0019820,GARD:0015780,Rare neurologic disease +GARD:0005534,GARD:0022513,GARD:0019820,GARD:0015998,Rare developmental defect during embryogenesis +GARD:0005534,GARD:0022524,GARD:0019820,GARD:0015778,Rare neurologic disease +GARD:0005534,GARD:0022531,GARD:0020342,GARD:0015780,Rare genetic disease +GARD:0005534,GARD:0022513,GARD:0020342,GARD:0015778,Rare developmental defect during embryogenesis +GARD:0005534,GARD:0022524,GARD:0020339,GARD:0015780,Rare neurologic disease +GARD:0005534,GARD:0022531,GARD:0022170,GARD:0015780,Rare genetic disease +GARD:0005534,GARD:0022513,GARD:0021000,GARD:0015998,Rare developmental defect during embryogenesis +GARD:0005534,GARD:0022524,GARD:0021000,GARD:0015780,Rare neurologic disease +GARD:0005534,GARD:0022531,GARD:0022170,GARD:0015778,Rare genetic disease +GARD:0005534,GARD:0022531,GARD:0020342,GARD:0015998,Rare genetic disease +GARD:0005534,GARD:0022531,GARD:0021000,GARD:0015998,Rare genetic disease +GARD:0005534,GARD:0022531,GARD:0019820,GARD:0015778,Rare genetic disease +GARD:0005534,GARD:0022513,GARD:0020342,GARD:0015998,Rare developmental defect during embryogenesis +GARD:0005534,GARD:0022524,GARD:0020339,GARD:0015778,Rare neurologic disease +GARD:0005534,GARD:0022531,GARD:0021010,GARD:0015998,Rare genetic disease +GARD:0005534,GARD:0022520,GARD:0020342,GARD:0015998,Rare ophthalmic disorder +GARD:0005534,GARD:0022520,GARD:0020342,GARD:0015780,Rare ophthalmic disorder +GARD:0005534,GARD:0022513,GARD:0020339,GARD:0015780,Rare developmental defect during embryogenesis +GARD:0005534,GARD:0022531,GARD:0021010,GARD:0015778,Rare genetic disease +GARD:0005534,GARD:0022531,GARD:0019820,GARD:0015780,Rare genetic disease +GARD:0005534,GARD:0022520,GARD:0019527,GARD:0015778,Rare ophthalmic disorder +GARD:0005534,GARD:0022531,GARD:0019820,GARD:0015998,Rare genetic disease +GARD:0005534,GARD:0022531,GARD:0021000,GARD:0015778,Rare genetic disease +GARD:0005534,GARD:0022513,GARD:0019820,GARD:0015778,Rare developmental defect during embryogenesis +GARD:0005534,GARD:0022524,GARD:0020339,GARD:0015998,Rare neurologic disease +GARD:0005534,GARD:0022520,GARD:0020342,GARD:0015778,Rare ophthalmic disorder +GARD:0005534,GARD:0022531,GARD:0021000,GARD:0015780,Rare genetic disease +GARD:0005534,GARD:0022513,GARD:0021000,GARD:0015780,Rare developmental defect during embryogenesis +GARD:0005535,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0005535,GARD:0022531,GARD:0020271,,Rare genetic disease +GARD:0005535,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0005535,GARD:0022510,GARD:0019005,,Rare skin disease +GARD:0005535,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0005535,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0005535,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0005538,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0005538,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0005538,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0005539,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0005539,GARD:0022513,GARD:0002392,,Rare developmental defect during embryogenesis +GARD:0005539,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0005539,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005539,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005539,GARD:0022531,GARD:0002392,,Rare genetic disease +GARD:0005539,GARD:0022511,GARD:0002392,,Rare bone disease +GARD:0005539,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005539,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0005545,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0005545,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005545,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005545,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0005545,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0005545,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0005545,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005552,GARD:0022531,GARD:0020361,,Rare genetic disease +GARD:0005552,GARD:0022524,GARD:0020361,,Rare neurologic disease +GARD:0005554,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0005554,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0005554,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0005554,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0005555,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0005555,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0005555,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0005560,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005560,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0005560,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005560,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0005560,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005562,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0005562,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0005562,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0005562,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0005562,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0005565,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005565,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005565,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005569,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0005569,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0005569,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0005569,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0005569,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0005573,GARD:0022522,GARD:0020093,,Rare hematologic disease +GARD:0005575,GARD:0022521,GARD:0020650,GARD:0017075,Rare endocrine disease +GARD:0005575,GARD:0022531,GARD:0020650,GARD:0016861,Rare genetic disease +GARD:0005575,GARD:0022531,GARD:0022441,GARD:0016861,Rare genetic disease +GARD:0005575,GARD:0022521,GARD:0020219,GARD:0017075,Rare endocrine disease +GARD:0005575,GARD:0022529,GARD:0020219,GARD:0017074,Rare infertility +GARD:0005575,GARD:0022529,GARD:0020219,GARD:0019576,Rare infertility +GARD:0005575,GARD:0022521,GARD:0020219,GARD:0017074,Rare endocrine disease +GARD:0005575,GARD:0022513,GARD:0020650,GARD:0019576,Rare developmental defect during embryogenesis +GARD:0005575,GARD:0022513,GARD:0019832,GARD:0017074,Rare developmental defect during embryogenesis +GARD:0005575,GARD:0022531,GARD:0021680,GARD:0016861,Rare genetic disease +GARD:0005575,GARD:0022529,GARD:0020219,GARD:0016861,Rare infertility +GARD:0005575,GARD:0022531,GARD:0021680,GARD:0019576,Rare genetic disease +GARD:0005575,GARD:0022524,GARD:0019389,GARD:0019576,Rare neurologic disease +GARD:0005575,GARD:0022521,GARD:0020219,GARD:0019576,Rare endocrine disease +GARD:0005575,GARD:0022529,GARD:0021680,GARD:0017075,Rare infertility +GARD:0005575,GARD:0022524,GARD:0019389,GARD:0016861,Rare neurologic disease +GARD:0005575,GARD:0022513,GARD:0020650,GARD:0017075,Rare developmental defect during embryogenesis +GARD:0005575,GARD:0022513,GARD:0019832,GARD:0017075,Rare developmental defect during embryogenesis +GARD:0005575,GARD:0022529,GARD:0021680,GARD:0017074,Rare infertility +GARD:0005575,GARD:0022531,GARD:0020650,GARD:0019576,Rare genetic disease +GARD:0005575,GARD:0022513,GARD:0019832,GARD:0016861,Rare developmental defect during embryogenesis +GARD:0005575,GARD:0022531,GARD:0021680,GARD:0017074,Rare genetic disease +GARD:0005575,GARD:0022524,GARD:0019389,GARD:0017075,Rare neurologic disease +GARD:0005575,GARD:0022513,GARD:0019832,GARD:0019576,Rare developmental defect during embryogenesis +GARD:0005575,GARD:0022531,GARD:0021680,GARD:0017075,Rare genetic disease +GARD:0005575,GARD:0022514,GARD:0020219,GARD:0016861,Rare gynecologic or obstetric disease +GARD:0005575,GARD:0022531,GARD:0020650,GARD:0017074,Rare genetic disease +GARD:0005575,GARD:0022524,GARD:0019832,GARD:0019576,Rare neurologic disease +GARD:0005575,GARD:0022514,GARD:0020219,GARD:0019576,Rare gynecologic or obstetric disease +GARD:0005575,GARD:0022524,GARD:0019832,GARD:0017075,Rare neurologic disease +GARD:0005575,GARD:0022524,GARD:0019832,GARD:0017074,Rare neurologic disease +GARD:0005575,GARD:0022529,GARD:0020219,GARD:0017075,Rare infertility +GARD:0005575,GARD:0022529,GARD:0021680,GARD:0019576,Rare infertility +GARD:0005575,GARD:0022531,GARD:0020219,GARD:0017075,Rare genetic disease +GARD:0005575,GARD:0022531,GARD:0020650,GARD:0017075,Rare genetic disease +GARD:0005575,GARD:0022521,GARD:0020650,GARD:0017074,Rare endocrine disease +GARD:0005575,GARD:0022521,GARD:0020650,GARD:0019576,Rare endocrine disease +GARD:0005575,GARD:0022531,GARD:0022441,GARD:0019576,Rare genetic disease +GARD:0005575,GARD:0022514,GARD:0020219,GARD:0017074,Rare gynecologic or obstetric disease +GARD:0005575,GARD:0022529,GARD:0021680,GARD:0016861,Rare infertility +GARD:0005575,GARD:0022513,GARD:0020650,GARD:0017074,Rare developmental defect during embryogenesis +GARD:0005575,GARD:0022531,GARD:0022441,GARD:0017075,Rare genetic disease +GARD:0005575,GARD:0022521,GARD:0020219,GARD:0016861,Rare endocrine disease +GARD:0005575,GARD:0022524,GARD:0019389,GARD:0017074,Rare neurologic disease +GARD:0005575,GARD:0022531,GARD:0020219,GARD:0019576,Rare genetic disease +GARD:0005575,GARD:0022513,GARD:0020650,GARD:0016861,Rare developmental defect during embryogenesis +GARD:0005575,GARD:0022524,GARD:0019832,GARD:0016861,Rare neurologic disease +GARD:0005575,GARD:0022531,GARD:0020219,GARD:0016861,Rare genetic disease +GARD:0005575,GARD:0022531,GARD:0022441,GARD:0017074,Rare genetic disease +GARD:0005575,GARD:0022521,GARD:0020650,GARD:0016861,Rare endocrine disease +GARD:0005575,GARD:0022531,GARD:0020219,GARD:0017074,Rare genetic disease +GARD:0005575,GARD:0022514,GARD:0020219,GARD:0017075,Rare gynecologic or obstetric disease +GARD:0005576,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0005576,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0005576,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005576,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0005576,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0005576,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0005576,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0005576,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0005576,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0005576,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0005576,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0005579,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005579,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0005579,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005579,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0005579,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0005579,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005584,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005584,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005584,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0005584,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0005584,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0005584,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005584,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0005584,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0005587,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0005587,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0005587,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0005587,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0005587,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0005587,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0005589,GARD:0022531,GARD:0020312,,Rare genetic disease +GARD:0005589,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005589,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0005589,GARD:0022521,GARD:0020217,,Rare endocrine disease +GARD:0005589,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005589,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005589,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0005589,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0005592,GARD:0022521,GARD:0020217,,Rare endocrine disease +GARD:0005592,GARD:0022531,GARD:0020219,,Rare genetic disease +GARD:0005592,GARD:0022521,GARD:0020219,,Rare endocrine disease +GARD:0005592,GARD:0022531,GARD:0020233,,Rare genetic disease +GARD:0005592,GARD:0022524,GARD:0011899,,Rare neurologic disease +GARD:0005592,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0005592,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0005592,GARD:0022529,GARD:0020219,,Rare infertility +GARD:0005592,GARD:0022531,GARD:0011899,,Rare genetic disease +GARD:0005592,GARD:0022524,GARD:0021596,,Rare neurologic disease +GARD:0005592,GARD:0022531,GARD:0020312,,Rare genetic disease +GARD:0005592,GARD:0022529,GARD:0020233,,Rare infertility +GARD:0005592,GARD:0022521,GARD:0020233,,Rare endocrine disease +GARD:0005592,GARD:0022514,GARD:0020219,,Rare gynecologic or obstetric disease +GARD:0005592,GARD:0022531,GARD:0021596,,Rare genetic disease +GARD:0005593,GARD:0022513,GARD:0008562,,Rare developmental defect during embryogenesis +GARD:0005593,GARD:0022524,GARD:0008562,,Rare neurologic disease +GARD:0005593,GARD:0022531,GARD:0008562,,Rare genetic disease +GARD:0005593,GARD:0022511,GARD:0008562,,Rare bone disease +GARD:0005595,GARD:0022515,GARD:0020529,GARD:0016014,Rare cardiac disease +GARD:0005595,GARD:0022510,GARD:0021803,GARD:0016014,Rare skin disease +GARD:0005595,GARD:0022531,GARD:0021803,GARD:0016014,Rare genetic disease +GARD:0005595,GARD:0022531,GARD:0006317,GARD:0016014,Rare genetic disease +GARD:0005595,GARD:0022536,GARD:0020529,GARD:0016014,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005595,GARD:0022531,GARD:0019451,GARD:0016014,Rare genetic disease +GARD:0005595,GARD:0022513,GARD:0006317,GARD:0016014,Rare developmental defect during embryogenesis +GARD:0005595,GARD:0022526,GARD:0019388,GARD:0016014,Rare odontologic disease +GARD:0005595,GARD:0022531,GARD:0020529,GARD:0016014,Rare genetic disease +GARD:0005595,GARD:0022510,GARD:0019451,GARD:0016014,Rare skin disease +GARD:0005595,GARD:0022510,GARD:0006317,GARD:0016014,Rare skin disease +GARD:0005597,GARD:0022510,GARD:0018997,GARD:0016029,Rare skin disease +GARD:0005597,GARD:0022510,GARD:0018997,GARD:0015247,Rare skin disease +GARD:0005597,GARD:0022531,GARD:0018997,GARD:0015247,Rare genetic disease +GARD:0005597,GARD:0022531,GARD:0018997,GARD:0008178,Rare genetic disease +GARD:0005597,GARD:0022510,GARD:0018997,GARD:0008178,Rare skin disease +GARD:0005597,GARD:0022531,GARD:0018997,GARD:0016157,Rare genetic disease +GARD:0005597,GARD:0022531,GARD:0018997,GARD:0016029,Rare genetic disease +GARD:0005597,GARD:0022510,GARD:0018997,GARD:0016157,Rare skin disease +GARD:0005598,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0005611,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005611,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0005611,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005611,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0005611,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005613,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0005613,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0005614,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0005614,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0005615,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005615,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005615,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005617,GARD:0022524,GARD:0021432,,Rare neurologic disease +GARD:0005617,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0005617,GARD:0022531,GARD:0022390,,Rare genetic disease +GARD:0005617,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0005617,GARD:0022521,GARD:0022390,,Rare endocrine disease +GARD:0005617,GARD:0022531,GARD:0021432,,Rare genetic disease +GARD:0005618,GARD:0022531,GARD:0021405,,Rare genetic disease +GARD:0005618,GARD:0022536,GARD:0021405,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005618,GARD:0022523,GARD:0021405,,Rare immune disease +GARD:0005620,GARD:0022531,GARD:0016628,,Rare genetic disease +GARD:0005620,GARD:0022512,GARD:0016628,,Rare renal disease +GARD:0005620,GARD:0022508,GARD:0016628,,Rare inborn errors of metabolism +GARD:0005621,GARD:0022531,GARD:0016628,,Rare genetic disease +GARD:0005621,GARD:0022512,GARD:0016628,,Rare renal disease +GARD:0005621,GARD:0022508,GARD:0016628,,Rare inborn errors of metabolism +GARD:0005622,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0005622,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0005622,GARD:0022531,GARD:0020275,,Rare genetic disease +GARD:0005622,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0005622,GARD:0022524,GARD:0019413,,Rare neurologic disease +GARD:0005622,GARD:0022524,GARD:0019491,,Rare neurologic disease +GARD:0005622,GARD:0022536,GARD:0020048,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005622,GARD:0022531,GARD:0020232,,Rare genetic disease +GARD:0005622,GARD:0022508,GARD:0020048,,Rare inborn errors of metabolism +GARD:0005622,GARD:0022506,GARD:0020048,,Rare hepatic disease +GARD:0005622,GARD:0022521,GARD:0020232,,Rare endocrine disease +GARD:0005622,GARD:0022531,GARD:0020558,,Rare genetic disease +GARD:0005622,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0005622,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0005622,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0005622,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0005622,GARD:0022508,GARD:0020232,,Rare inborn errors of metabolism +GARD:0005622,GARD:0022531,GARD:0020048,,Rare genetic disease +GARD:0005622,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0005622,GARD:0022524,GARD:0020558,,Rare neurologic disease +GARD:0005622,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0005622,GARD:0022531,GARD:0019491,,Rare genetic disease +GARD:0005622,GARD:0022531,GARD:0019413,,Rare genetic disease +GARD:0005623,GARD:0022531,GARD:0019456,GARD:0015126,Rare genetic disease +GARD:0005623,GARD:0022531,GARD:0019456,GARD:0016152,Rare genetic disease +GARD:0005623,GARD:0022522,GARD:0019456,GARD:0016152,Rare hematologic disease +GARD:0005623,GARD:0022522,GARD:0019456,GARD:0015126,Rare hematologic disease +GARD:0005624,GARD:0022513,GARD:0007910,,Rare developmental defect during embryogenesis +GARD:0005624,GARD:0022524,GARD:0007910,,Rare neurologic disease +GARD:0005624,GARD:0022535,GARD:0007910,,Rare neoplastic disease +GARD:0005624,GARD:0022520,GARD:0007910,,Rare ophthalmic disorder +GARD:0005624,GARD:0022510,GARD:0007910,,Rare skin disease +GARD:0005624,GARD:0022531,GARD:0007910,,Rare genetic disease +GARD:0005625,GARD:0022535,GARD:0007910,,Rare neoplastic disease +GARD:0005625,GARD:0022510,GARD:0007910,,Rare skin disease +GARD:0005625,GARD:0022524,GARD:0017130,,Rare neurologic disease +GARD:0005625,GARD:0022513,GARD:0017130,,Rare developmental defect during embryogenesis +GARD:0005625,GARD:0022535,GARD:0017130,,Rare neoplastic disease +GARD:0005625,GARD:0022520,GARD:0017130,,Rare ophthalmic disorder +GARD:0005625,GARD:0022524,GARD:0007910,,Rare neurologic disease +GARD:0005625,GARD:0022513,GARD:0007910,,Rare developmental defect during embryogenesis +GARD:0005625,GARD:0022520,GARD:0007910,,Rare ophthalmic disorder +GARD:0005625,GARD:0022531,GARD:0007910,,Rare genetic disease +GARD:0005625,GARD:0022510,GARD:0017130,,Rare skin disease +GARD:0005625,GARD:0022528,GARD:0017130,,Rare otorhinolaryngologic disease +GARD:0005625,GARD:0022531,GARD:0017130,,Rare genetic disease +GARD:0005626,GARD:0022531,GARD:0007910,,Rare genetic disease +GARD:0005626,GARD:0022524,GARD:0007910,,Rare neurologic disease +GARD:0005626,GARD:0022513,GARD:0007910,,Rare developmental defect during embryogenesis +GARD:0005626,GARD:0022510,GARD:0007910,,Rare skin disease +GARD:0005626,GARD:0022520,GARD:0007910,,Rare ophthalmic disorder +GARD:0005626,GARD:0022535,GARD:0007910,,Rare neoplastic disease +GARD:0005627,GARD:0022513,GARD:0007910,,Rare developmental defect during embryogenesis +GARD:0005627,GARD:0022520,GARD:0007910,,Rare ophthalmic disorder +GARD:0005627,GARD:0022531,GARD:0007910,,Rare genetic disease +GARD:0005627,GARD:0022510,GARD:0007910,,Rare skin disease +GARD:0005627,GARD:0022524,GARD:0007910,,Rare neurologic disease +GARD:0005627,GARD:0022535,GARD:0007910,,Rare neoplastic disease +GARD:0005628,GARD:0022528,GARD:0017130,,Rare otorhinolaryngologic disease +GARD:0005628,GARD:0022535,GARD:0017130,,Rare neoplastic disease +GARD:0005628,GARD:0022513,GARD:0017130,,Rare developmental defect during embryogenesis +GARD:0005628,GARD:0022510,GARD:0017130,,Rare skin disease +GARD:0005628,GARD:0022513,GARD:0007910,,Rare developmental defect during embryogenesis +GARD:0005628,GARD:0022531,GARD:0017130,,Rare genetic disease +GARD:0005628,GARD:0022510,GARD:0007910,,Rare skin disease +GARD:0005628,GARD:0022531,GARD:0007910,,Rare genetic disease +GARD:0005628,GARD:0022524,GARD:0007910,,Rare neurologic disease +GARD:0005628,GARD:0022520,GARD:0017130,,Rare ophthalmic disorder +GARD:0005628,GARD:0022524,GARD:0017130,,Rare neurologic disease +GARD:0005628,GARD:0022520,GARD:0007910,,Rare ophthalmic disorder +GARD:0005628,GARD:0022535,GARD:0007910,,Rare neoplastic disease +GARD:0005629,GARD:0022510,GARD:0017130,,Rare skin disease +GARD:0005629,GARD:0022528,GARD:0017130,,Rare otorhinolaryngologic disease +GARD:0005629,GARD:0022520,GARD:0017130,,Rare ophthalmic disorder +GARD:0005629,GARD:0022528,GARD:0006027,,Rare otorhinolaryngologic disease +GARD:0005629,GARD:0022520,GARD:0006027,,Rare ophthalmic disorder +GARD:0005629,GARD:0022535,GARD:0006027,,Rare neoplastic disease +GARD:0005629,GARD:0022513,GARD:0007910,,Rare developmental defect during embryogenesis +GARD:0005629,GARD:0022531,GARD:0007910,,Rare genetic disease +GARD:0005629,GARD:0022535,GARD:0017130,,Rare neoplastic disease +GARD:0005629,GARD:0022535,GARD:0007910,,Rare neoplastic disease +GARD:0005629,GARD:0022520,GARD:0007910,,Rare ophthalmic disorder +GARD:0005629,GARD:0022510,GARD:0007910,,Rare skin disease +GARD:0005629,GARD:0022510,GARD:0006027,,Rare skin disease +GARD:0005629,GARD:0022531,GARD:0017130,,Rare genetic disease +GARD:0005629,GARD:0022524,GARD:0007910,,Rare neurologic disease +GARD:0005629,GARD:0022513,GARD:0017130,,Rare developmental defect during embryogenesis +GARD:0005629,GARD:0022524,GARD:0006027,,Rare neurologic disease +GARD:0005629,GARD:0022524,GARD:0017130,,Rare neurologic disease +GARD:0005629,GARD:0022513,GARD:0006027,,Rare developmental defect during embryogenesis +GARD:0005629,GARD:0022531,GARD:0006027,,Rare genetic disease +GARD:0005630,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0005630,GARD:0022510,GARD:0019018,,Rare skin disease +GARD:0005630,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0005630,GARD:0022531,GARD:0019503,,Rare genetic disease +GARD:0005630,GARD:0022513,GARD:0019503,,Rare developmental defect during embryogenesis +GARD:0005630,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0005630,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0005630,GARD:0022531,GARD:0022162,,Rare genetic disease +GARD:0005630,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0005630,GARD:0022520,GARD:0019503,,Rare ophthalmic disorder +GARD:0005630,GARD:0022520,GARD:0022081,,Rare ophthalmic disorder +GARD:0005630,GARD:0022513,GARD:0022081,,Rare developmental defect during embryogenesis +GARD:0005630,GARD:0022531,GARD:0020277,,Rare genetic disease +GARD:0005630,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0005642,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0005642,GARD:0022513,GARD:0021002,,Rare developmental defect during embryogenesis +GARD:0005642,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0005642,GARD:0022531,GARD:0021009,,Rare genetic disease +GARD:0005642,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0005642,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0005642,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0005642,GARD:0022524,GARD:0021002,,Rare neurologic disease +GARD:0005642,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0005643,GARD:0022531,GARD:0020029,,Rare genetic disease +GARD:0005643,GARD:0022524,GARD:0019254,,Rare neurologic disease +GARD:0005643,GARD:0022531,GARD:0019254,,Rare genetic disease +GARD:0005643,GARD:0022524,GARD:0020029,,Rare neurologic disease +GARD:0005644,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0005644,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0005644,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005648,GARD:0022524,GARD:0018688,GARD:0015463,Rare neurologic disease +GARD:0005648,GARD:0022524,GARD:0018688,GARD:0015065,Rare neurologic disease +GARD:0005648,GARD:0022524,GARD:0018688,GARD:0015464,Rare neurologic disease +GARD:0005653,GARD:0022535,GARD:0002491,,Rare neoplastic disease +GARD:0005653,GARD:0022524,GARD:0002491,,Rare neurologic disease +GARD:0005654,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0005657,GARD:0022525,GARD:0019831,,Rare systemic or rheumatologic disease +GARD:0005657,GARD:0021079,GARD:0021462,,Rare systemic or rheumatological disease of childhood +GARD:0005658,GARD:0022514,GARD:0019148,,Rare gynecologic or obstetric disease +GARD:0005658,GARD:0022531,GARD:0001467,,Rare genetic disease +GARD:0005658,GARD:0022521,GARD:0001467,,Rare endocrine disease +GARD:0005658,GARD:0022532,GARD:0019148,,Rare urogenital disease +GARD:0005658,GARD:0022513,GARD:0019148,,Rare developmental defect during embryogenesis +GARD:0005658,GARD:0022531,GARD:0019148,,Rare genetic disease +GARD:0005658,GARD:0022521,GARD:0019148,,Rare endocrine disease +GARD:0005659,GARD:0022531,GARD:0021692,,Rare genetic disease +GARD:0005659,GARD:0022531,GARD:0021672,,Rare genetic disease +GARD:0005659,GARD:0022521,GARD:0019151,,Rare endocrine disease +GARD:0005659,GARD:0022513,GARD:0019151,,Rare developmental defect during embryogenesis +GARD:0005659,GARD:0022532,GARD:0019151,,Rare urogenital disease +GARD:0005659,GARD:0022529,GARD:0021672,,Rare infertility +GARD:0005659,GARD:0022514,GARD:0019151,,Rare gynecologic or obstetric disease +GARD:0005659,GARD:0022529,GARD:0021681,,Rare infertility +GARD:0005659,GARD:0022531,GARD:0019151,,Rare genetic disease +GARD:0005659,GARD:0022536,GARD:0019151,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005661,GARD:0022531,GARD:0010761,GARD:0015685,Rare genetic disease +GARD:0005661,GARD:0022508,GARD:0010761,GARD:0015685,Rare inborn errors of metabolism +GARD:0005661,GARD:0022524,GARD:0010761,GARD:0015685,Rare neurologic disease +GARD:0005662,GARD:0022531,GARD:0018947,,Rare genetic disease +GARD:0005662,GARD:0022508,GARD:0018947,,Rare inborn errors of metabolism +GARD:0005663,GARD:0022508,GARD:0012966,,Rare inborn errors of metabolism +GARD:0005663,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0005663,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0005663,GARD:0022531,GARD:0012966,,Rare genetic disease +GARD:0005665,GARD:0022508,GARD:0010954,,Rare inborn errors of metabolism +GARD:0005665,GARD:0022531,GARD:0010954,,Rare genetic disease +GARD:0005666,GARD:0022524,GARD:0019832,GARD:0016426,Rare neurologic disease +GARD:0005666,GARD:0022524,GARD:0021002,GARD:0015278,Rare neurologic disease +GARD:0005666,GARD:0022513,GARD:0019832,GARD:0015278,Rare developmental defect during embryogenesis +GARD:0005666,GARD:0022531,GARD:0022441,GARD:0015160,Rare genetic disease +GARD:0005666,GARD:0022513,GARD:0019832,GARD:0016426,Rare developmental defect during embryogenesis +GARD:0005666,GARD:0022531,GARD:0022441,GARD:0015278,Rare genetic disease +GARD:0005666,GARD:0022513,GARD:0021002,GARD:0015160,Rare developmental defect during embryogenesis +GARD:0005666,GARD:0022513,GARD:0021002,GARD:0015278,Rare developmental defect during embryogenesis +GARD:0005666,GARD:0022531,GARD:0022441,GARD:0016426,Rare genetic disease +GARD:0005666,GARD:0022524,GARD:0019832,GARD:0015278,Rare neurologic disease +GARD:0005666,GARD:0022531,GARD:0021009,GARD:0015278,Rare genetic disease +GARD:0005666,GARD:0022531,GARD:0021009,GARD:0016426,Rare genetic disease +GARD:0005666,GARD:0022524,GARD:0021002,GARD:0015160,Rare neurologic disease +GARD:0005666,GARD:0022524,GARD:0021002,GARD:0016426,Rare neurologic disease +GARD:0005666,GARD:0022513,GARD:0019832,GARD:0015160,Rare developmental defect during embryogenesis +GARD:0005666,GARD:0022524,GARD:0019832,GARD:0015160,Rare neurologic disease +GARD:0005666,GARD:0022531,GARD:0021009,GARD:0015160,Rare genetic disease +GARD:0005666,GARD:0022513,GARD:0021002,GARD:0016426,Rare developmental defect during embryogenesis +GARD:0005667,GARD:0022511,GARD:0019197,GARD:0015591,Rare bone disease +GARD:0005667,GARD:0022531,GARD:0021507,GARD:0015772,Rare genetic disease +GARD:0005667,GARD:0022511,GARD:0019197,GARD:0015239,Rare bone disease +GARD:0005667,GARD:0022513,GARD:0019902,GARD:0015239,Rare developmental defect during embryogenesis +GARD:0005667,GARD:0022513,GARD:0019197,GARD:0015239,Rare developmental defect during embryogenesis +GARD:0005667,GARD:0022531,GARD:0021507,GARD:0015239,Rare genetic disease +GARD:0005667,GARD:0022531,GARD:0020299,GARD:0015239,Rare genetic disease +GARD:0005667,GARD:0022513,GARD:0019833,GARD:0015772,Rare developmental defect during embryogenesis +GARD:0005667,GARD:0022531,GARD:0019197,GARD:0015239,Rare genetic disease +GARD:0005667,GARD:0022531,GARD:0020299,GARD:0015772,Rare genetic disease +GARD:0005667,GARD:0022531,GARD:0019197,GARD:0015772,Rare genetic disease +GARD:0005667,GARD:0022531,GARD:0020299,GARD:0015591,Rare genetic disease +GARD:0005667,GARD:0022513,GARD:0019197,GARD:0015591,Rare developmental defect during embryogenesis +GARD:0005667,GARD:0022513,GARD:0019833,GARD:0015591,Rare developmental defect during embryogenesis +GARD:0005667,GARD:0022513,GARD:0019197,GARD:0015772,Rare developmental defect during embryogenesis +GARD:0005667,GARD:0022531,GARD:0021507,GARD:0015591,Rare genetic disease +GARD:0005667,GARD:0022513,GARD:0019902,GARD:0015591,Rare developmental defect during embryogenesis +GARD:0005667,GARD:0022511,GARD:0019197,GARD:0015772,Rare bone disease +GARD:0005667,GARD:0022513,GARD:0019902,GARD:0015772,Rare developmental defect during embryogenesis +GARD:0005667,GARD:0022513,GARD:0019833,GARD:0015239,Rare developmental defect during embryogenesis +GARD:0005667,GARD:0022531,GARD:0019197,GARD:0015591,Rare genetic disease +GARD:0005668,GARD:0022531,GARD:0021127,,Rare genetic disease +GARD:0005668,GARD:0022508,GARD:0021127,,Rare inborn errors of metabolism +GARD:0005671,GARD:0022521,GARD:0021463,GARD:0018042,Rare endocrine disease +GARD:0005671,GARD:0022531,GARD:0021992,GARD:0018040,Rare genetic disease +GARD:0005671,GARD:0022514,GARD:0019294,GARD:0018041,Rare gynecologic or obstetric disease +GARD:0005671,GARD:0022529,GARD:0021683,GARD:0018044,Rare infertility +GARD:0005671,GARD:0022529,GARD:0021683,GARD:0018040,Rare infertility +GARD:0005671,GARD:0022529,GARD:0021683,GARD:0018041,Rare infertility +GARD:0005671,GARD:0022514,GARD:0019408,GARD:0018041,Rare gynecologic or obstetric disease +GARD:0005671,GARD:0022514,GARD:0019408,GARD:0018044,Rare gynecologic or obstetric disease +GARD:0005671,GARD:0022513,GARD:0021463,GARD:0018044,Rare developmental defect during embryogenesis +GARD:0005671,GARD:0022514,GARD:0019408,GARD:0018040,Rare gynecologic or obstetric disease +GARD:0005671,GARD:0022531,GARD:0021463,GARD:0018040,Rare genetic disease +GARD:0005671,GARD:0022531,GARD:0021463,GARD:0018039,Rare genetic disease +GARD:0005671,GARD:0022531,GARD:0019408,GARD:0018044,Rare genetic disease +GARD:0005671,GARD:0022531,GARD:0021992,GARD:0018042,Rare genetic disease +GARD:0005671,GARD:0022521,GARD:0021463,GARD:0018043,Rare endocrine disease +GARD:0005671,GARD:0022514,GARD:0019294,GARD:0018043,Rare gynecologic or obstetric disease +GARD:0005671,GARD:0022532,GARD:0021463,GARD:0018044,Rare urogenital disease +GARD:0005671,GARD:0022536,GARD:0022061,GARD:0018041,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005671,GARD:0022514,GARD:0019294,GARD:0018040,Rare gynecologic or obstetric disease +GARD:0005671,GARD:0022536,GARD:0022061,GARD:0018042,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005671,GARD:0022531,GARD:0019408,GARD:0018043,Rare genetic disease +GARD:0005671,GARD:0022532,GARD:0021463,GARD:0018040,Rare urogenital disease +GARD:0005671,GARD:0022513,GARD:0021463,GARD:0018039,Rare developmental defect during embryogenesis +GARD:0005671,GARD:0022513,GARD:0021463,GARD:0018040,Rare developmental defect during embryogenesis +GARD:0005671,GARD:0022531,GARD:0021683,GARD:0018039,Rare genetic disease +GARD:0005671,GARD:0022531,GARD:0021683,GARD:0018044,Rare genetic disease +GARD:0005671,GARD:0022531,GARD:0021992,GARD:0018043,Rare genetic disease +GARD:0005671,GARD:0022529,GARD:0021683,GARD:0018042,Rare infertility +GARD:0005671,GARD:0022532,GARD:0021463,GARD:0018042,Rare urogenital disease +GARD:0005671,GARD:0022514,GARD:0019294,GARD:0018039,Rare gynecologic or obstetric disease +GARD:0005671,GARD:0022531,GARD:0019408,GARD:0018039,Rare genetic disease +GARD:0005671,GARD:0022513,GARD:0021463,GARD:0018042,Rare developmental defect during embryogenesis +GARD:0005671,GARD:0022536,GARD:0022061,GARD:0018044,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005671,GARD:0022521,GARD:0021463,GARD:0018040,Rare endocrine disease +GARD:0005671,GARD:0022531,GARD:0019408,GARD:0018041,Rare genetic disease +GARD:0005671,GARD:0022514,GARD:0019408,GARD:0018043,Rare gynecologic or obstetric disease +GARD:0005671,GARD:0022536,GARD:0022061,GARD:0018043,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005671,GARD:0022521,GARD:0019294,GARD:0018042,Rare endocrine disease +GARD:0005671,GARD:0022531,GARD:0021992,GARD:0018039,Rare genetic disease +GARD:0005671,GARD:0022532,GARD:0021463,GARD:0018041,Rare urogenital disease +GARD:0005671,GARD:0022536,GARD:0022061,GARD:0018039,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005671,GARD:0022531,GARD:0021683,GARD:0018043,Rare genetic disease +GARD:0005671,GARD:0022514,GARD:0019408,GARD:0018039,Rare gynecologic or obstetric disease +GARD:0005671,GARD:0022531,GARD:0021463,GARD:0018042,Rare genetic disease +GARD:0005671,GARD:0022521,GARD:0019294,GARD:0018041,Rare endocrine disease +GARD:0005671,GARD:0022529,GARD:0021683,GARD:0018039,Rare infertility +GARD:0005671,GARD:0022521,GARD:0019294,GARD:0018039,Rare endocrine disease +GARD:0005671,GARD:0022521,GARD:0021463,GARD:0018041,Rare endocrine disease +GARD:0005671,GARD:0022514,GARD:0019294,GARD:0018044,Rare gynecologic or obstetric disease +GARD:0005671,GARD:0022531,GARD:0019408,GARD:0018042,Rare genetic disease +GARD:0005671,GARD:0022531,GARD:0019408,GARD:0018040,Rare genetic disease +GARD:0005671,GARD:0022531,GARD:0021683,GARD:0018040,Rare genetic disease +GARD:0005671,GARD:0022514,GARD:0019294,GARD:0018042,Rare gynecologic or obstetric disease +GARD:0005671,GARD:0022513,GARD:0021463,GARD:0018043,Rare developmental defect during embryogenesis +GARD:0005671,GARD:0022529,GARD:0021683,GARD:0018043,Rare infertility +GARD:0005671,GARD:0022521,GARD:0019294,GARD:0018044,Rare endocrine disease +GARD:0005671,GARD:0022531,GARD:0021683,GARD:0018042,Rare genetic disease +GARD:0005671,GARD:0022536,GARD:0022061,GARD:0018040,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005671,GARD:0022531,GARD:0021992,GARD:0018044,Rare genetic disease +GARD:0005671,GARD:0022532,GARD:0021463,GARD:0018039,Rare urogenital disease +GARD:0005671,GARD:0022514,GARD:0019408,GARD:0018042,Rare gynecologic or obstetric disease +GARD:0005671,GARD:0022531,GARD:0021463,GARD:0018043,Rare genetic disease +GARD:0005671,GARD:0022531,GARD:0021992,GARD:0018041,Rare genetic disease +GARD:0005671,GARD:0022532,GARD:0021463,GARD:0018043,Rare urogenital disease +GARD:0005671,GARD:0022521,GARD:0021463,GARD:0018044,Rare endocrine disease +GARD:0005671,GARD:0022531,GARD:0021463,GARD:0018041,Rare genetic disease +GARD:0005671,GARD:0022513,GARD:0021463,GARD:0018041,Rare developmental defect during embryogenesis +GARD:0005671,GARD:0022521,GARD:0019294,GARD:0018040,Rare endocrine disease +GARD:0005671,GARD:0022531,GARD:0021683,GARD:0018041,Rare genetic disease +GARD:0005671,GARD:0022531,GARD:0021463,GARD:0018044,Rare genetic disease +GARD:0005671,GARD:0022521,GARD:0019294,GARD:0018043,Rare endocrine disease +GARD:0005671,GARD:0022521,GARD:0021463,GARD:0018039,Rare endocrine disease +GARD:0005672,GARD:0022529,GARD:0021682,,Rare infertility +GARD:0005672,GARD:0022513,GARD:0020910,,Rare developmental defect during embryogenesis +GARD:0005672,GARD:0022521,GARD:0019294,,Rare endocrine disease +GARD:0005672,GARD:0022531,GARD:0021992,,Rare genetic disease +GARD:0005672,GARD:0022514,GARD:0019294,,Rare gynecologic or obstetric disease +GARD:0005672,GARD:0022531,GARD:0021693,,Rare genetic disease +GARD:0005672,GARD:0022531,GARD:0020910,,Rare genetic disease +GARD:0005674,GARD:0022513,GARD:0020913,,Rare developmental defect during embryogenesis +GARD:0005674,GARD:0022531,GARD:0020913,,Rare genetic disease +GARD:0005676,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0005676,GARD:0022529,GARD:0019445,,Rare infertility +GARD:0005676,GARD:0022531,GARD:0020909,,Rare genetic disease +GARD:0005676,GARD:0022532,GARD:0021476,,Rare urogenital disease +GARD:0005676,GARD:0022521,GARD:0021476,,Rare endocrine disease +GARD:0005676,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005676,GARD:0022531,GARD:0019445,,Rare genetic disease +GARD:0005676,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005676,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0005676,GARD:0022531,GARD:0021476,,Rare genetic disease +GARD:0005676,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0005676,GARD:0022513,GARD:0020909,,Rare developmental defect during embryogenesis +GARD:0005676,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005676,GARD:0022513,GARD:0021476,,Rare developmental defect during embryogenesis +GARD:0005677,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005677,GARD:0022531,GARD:0021476,,Rare genetic disease +GARD:0005677,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0005677,GARD:0022532,GARD:0021476,,Rare urogenital disease +GARD:0005677,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0005677,GARD:0022531,GARD:0020914,,Rare genetic disease +GARD:0005677,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005677,GARD:0022513,GARD:0020914,,Rare developmental defect during embryogenesis +GARD:0005677,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0005677,GARD:0022513,GARD:0021476,,Rare developmental defect during embryogenesis +GARD:0005677,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005677,GARD:0022521,GARD:0021476,,Rare endocrine disease +GARD:0005678,GARD:0022531,GARD:0020910,,Rare genetic disease +GARD:0005678,GARD:0022513,GARD:0020910,,Rare developmental defect during embryogenesis +GARD:0005679,GARD:0022532,GARD:0021476,,Rare urogenital disease +GARD:0005679,GARD:0022531,GARD:0021476,,Rare genetic disease +GARD:0005679,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005679,GARD:0022513,GARD:0020909,,Rare developmental defect during embryogenesis +GARD:0005679,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005679,GARD:0022521,GARD:0021476,,Rare endocrine disease +GARD:0005679,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005679,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0005679,GARD:0022513,GARD:0021476,,Rare developmental defect during embryogenesis +GARD:0005679,GARD:0022529,GARD:0019445,,Rare infertility +GARD:0005679,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0005679,GARD:0022531,GARD:0019445,,Rare genetic disease +GARD:0005679,GARD:0022531,GARD:0020909,,Rare genetic disease +GARD:0005679,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0005680,GARD:0022514,GARD:0019410,,Rare gynecologic or obstetric disease +GARD:0005680,GARD:0022521,GARD:0019410,,Rare endocrine disease +GARD:0005680,GARD:0022532,GARD:0019410,,Rare urogenital disease +GARD:0005680,GARD:0022531,GARD:0021672,,Rare genetic disease +GARD:0005680,GARD:0022536,GARD:0019410,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005680,GARD:0022531,GARD:0019410,,Rare genetic disease +GARD:0005680,GARD:0022529,GARD:0021672,,Rare infertility +GARD:0005680,GARD:0022513,GARD:0019410,,Rare developmental defect during embryogenesis +GARD:0005681,GARD:0022508,GARD:0018970,,Rare inborn errors of metabolism +GARD:0005681,GARD:0022531,GARD:0018970,,Rare genetic disease +GARD:0005682,GARD:0022531,GARD:0007751,,Rare genetic disease +GARD:0005682,GARD:0022508,GARD:0007751,,Rare inborn errors of metabolism +GARD:0005682,GARD:0022524,GARD:0007751,,Rare neurologic disease +GARD:0005683,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0005683,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005683,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0005683,GARD:0022531,GARD:0021472,,Rare genetic disease +GARD:0005683,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0005683,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0005683,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0005683,GARD:0022536,GARD:0021472,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005683,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0005683,GARD:0022531,GARD:0019504,,Rare genetic disease +GARD:0005683,GARD:0022521,GARD:0021472,,Rare endocrine disease +GARD:0005683,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005683,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0005683,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0005683,GARD:0022532,GARD:0021472,,Rare urogenital disease +GARD:0005683,GARD:0022531,GARD:0018969,,Rare genetic disease +GARD:0005683,GARD:0022508,GARD:0018969,,Rare inborn errors of metabolism +GARD:0005683,GARD:0022513,GARD:0021472,,Rare developmental defect during embryogenesis +GARD:0005683,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005683,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005683,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0005683,GARD:0022520,GARD:0019504,,Rare ophthalmic disorder +GARD:0005683,GARD:0022531,GARD:0019533,,Rare genetic disease +GARD:0005683,GARD:0022513,GARD:0018969,,Rare developmental defect during embryogenesis +GARD:0005683,GARD:0022520,GARD:0019533,,Rare ophthalmic disorder +GARD:0005683,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0005683,GARD:0022513,GARD:0019504,,Rare developmental defect during embryogenesis +GARD:0005683,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0005686,GARD:0022524,GARD:0020370,,Rare neurologic disease +GARD:0005686,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0005686,GARD:0022531,GARD:0020370,,Rare genetic disease +GARD:0005686,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0005686,GARD:0022531,GARD:0019460,,Rare genetic disease +GARD:0005686,GARD:0022522,GARD:0019460,,Rare hematologic disease +GARD:0005688,GARD:0022531,GARD:0021010,,Rare genetic disease +GARD:0005688,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005688,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005688,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0005688,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0005688,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005691,GARD:0022520,GARD:0019529,GARD:0015871,Rare ophthalmic disorder +GARD:0005691,GARD:0022531,GARD:0006895,GARD:0015871,Rare genetic disease +GARD:0005691,GARD:0022531,GARD:0018890,GARD:0015871,Rare genetic disease +GARD:0005691,GARD:0022520,GARD:0022089,GARD:0015871,Rare ophthalmic disorder +GARD:0005691,GARD:0022531,GARD:0020382,GARD:0015871,Rare genetic disease +GARD:0005691,GARD:0022531,GARD:0021112,GARD:0015871,Rare genetic disease +GARD:0005691,GARD:0022510,GARD:0021112,GARD:0015871,Rare skin disease +GARD:0005691,GARD:0022524,GARD:0019413,GARD:0015871,Rare neurologic disease +GARD:0005691,GARD:0022536,GARD:0012476,GARD:0015871,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005691,GARD:0022531,GARD:0012476,GARD:0015871,Rare genetic disease +GARD:0005691,GARD:0022520,GARD:0019538,GARD:0015871,Rare ophthalmic disorder +GARD:0005691,GARD:0022508,GARD:0012476,GARD:0015871,Rare inborn errors of metabolism +GARD:0005691,GARD:0022531,GARD:0022180,GARD:0015871,Rare genetic disease +GARD:0005691,GARD:0022531,GARD:0019538,GARD:0015871,Rare genetic disease +GARD:0005691,GARD:0022524,GARD:0006895,GARD:0015871,Rare neurologic disease +GARD:0005691,GARD:0022531,GARD:0019413,GARD:0015871,Rare genetic disease +GARD:0005691,GARD:0022524,GARD:0018890,GARD:0015871,Rare neurologic disease +GARD:0005691,GARD:0022524,GARD:0020382,GARD:0015871,Rare neurologic disease +GARD:0005691,GARD:0022531,GARD:0019529,GARD:0015871,Rare genetic disease +GARD:0005692,GARD:0022514,GARD:0005803,,Rare gynecologic or obstetric disease +GARD:0005692,GARD:0022529,GARD:0005803,,Rare infertility +GARD:0005692,GARD:0022521,GARD:0005803,,Rare endocrine disease +GARD:0005692,GARD:0022532,GARD:0005803,,Rare urogenital disease +GARD:0005692,GARD:0022531,GARD:0005803,,Rare genetic disease +GARD:0005692,GARD:0022513,GARD:0005803,,Rare developmental defect during embryogenesis +GARD:0005693,GARD:0022525,GARD:0020257,,Rare systemic or rheumatologic disease +GARD:0005693,GARD:0021079,GARD:0021997,,Rare systemic or rheumatological disease of childhood +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010384,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015682,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016135,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015682,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010382,Rare neurologic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016231,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016135,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015988,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010389,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015716,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015682,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010401,Rare neurologic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010391,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010382,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010400,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010393,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016221,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016368,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015310,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015110,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016119,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016298,Rare neurologic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010387,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016385,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010403,Rare neurologic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010397,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015716,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010376,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010382,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015508,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016196,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010389,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010379,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015679,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010394,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010396,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016311,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015724,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016298,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015720,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015720,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015709,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016252,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010380,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015508,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016306,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010392,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015629,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0016176,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015767,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016004,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015110,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015923,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015965,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015725,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016119,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015988,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015988,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015767,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0016368,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016229,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016385,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015678,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010388,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016101,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015682,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010379,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015923,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010381,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016252,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016196,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015720,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015679,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010393,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015701,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015662,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016101,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010402,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010378,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015725,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015677,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015766,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010380,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015702,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015709,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015508,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015679,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010398,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0016385,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015720,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015310,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0016135,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015230,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010381,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015701,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010381,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015716,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015310,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0009149,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016176,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010378,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015111,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015705,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016306,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016032,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015810,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010387,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010398,Rare genetic disease 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+GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015110,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016368,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010384,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0016011,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016342,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015678,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010405,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016135,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010385,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015767,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010397,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010386,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015231,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015230,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015110,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015677,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015704,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0009149,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016306,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010405,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015110,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016138,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010388,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015965,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015701,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010384,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015715,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015965,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016176,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010393,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015679,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015810,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015988,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015738,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010378,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0016004,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015665,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010385,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016231,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015310,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010378,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016032,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015678,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016385,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015724,Rare neurologic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015702,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015705,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010401,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010396,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015662,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010402,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010400,Rare neurologic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010394,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010390,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015700,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015662,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010403,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016229,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010377,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010405,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016011,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015716,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010404,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010382,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010391,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010386,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010383,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016135,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015725,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016229,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010381,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015700,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0016311,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010379,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010391,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016342,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010390,Rare neurologic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010383,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015810,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010383,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015508,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016101,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015705,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010382,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015988,Rare neurologic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015310,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015571,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010402,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015629,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010380,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016385,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010397,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010402,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016101,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010392,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016176,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015231,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016196,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010385,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0016342,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015702,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016229,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015700,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015716,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015738,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015682,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015725,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010389,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016311,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015571,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010400,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010394,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016342,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010400,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016032,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016221,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010392,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016221,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010379,Rare neurologic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015738,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015766,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010390,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015738,Rare neurologic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010389,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010386,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016176,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015665,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016298,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010384,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010391,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015923,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015767,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015810,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016368,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010380,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015230,Rare neurologic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010402,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015678,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016231,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015701,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010395,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016011,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016196,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010394,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010388,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0016032,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010397,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015965,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016221,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010385,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016196,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015677,Rare neurologic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010378,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015767,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010387,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010403,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016374,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015677,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016252,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010389,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015231,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016032,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016298,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010397,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0016101,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015593,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015700,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015810,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015701,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016311,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010383,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010402,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015716,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016119,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015231,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016176,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010391,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015508,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0016119,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010376,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016374,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015725,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010382,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015715,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015571,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016138,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016004,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010395,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010388,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015766,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015679,Rare neurologic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015682,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016231,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010383,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010377,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015665,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016374,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010392,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015593,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010385,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016119,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010395,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016342,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015111,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016004,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010405,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010376,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010387,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016138,Rare neurologic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010398,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016311,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010401,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016004,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010384,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010376,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015310,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0009149,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016101,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015767,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010395,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0016011,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016032,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016374,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015593,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010393,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015720,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015704,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010390,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015724,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016011,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010383,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010403,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015923,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010398,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010387,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015709,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010401,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010390,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010393,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010388,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016306,Rare ophthalmic disorder +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015923,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015678,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015593,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015702,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015704,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015766,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015665,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016306,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0016374,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010380,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015766,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0009149,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015662,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0016229,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010377,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010378,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016298,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015571,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015629,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015810,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010394,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010400,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015709,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015709,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015230,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0016385,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0010387,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010405,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0016306,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010395,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010386,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015738,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015724,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010376,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015701,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015677,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015724,Rare ophthalmic disorder +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0015709,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015111,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010392,Rare genetic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0016252,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0015715,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015662,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015679,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010404,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010404,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022440,GARD:0015715,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0015700,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0015988,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0010400,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010405,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0016374,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0022099,GARD:0010403,Rare genetic disease +GARD:0005694,GARD:0022531,GARD:0019989,GARD:0010377,Rare genetic disease +GARD:0005694,GARD:0022520,GARD:0022099,GARD:0016342,Rare ophthalmic disorder +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0015704,Rare neurologic disease +GARD:0005694,GARD:0022524,GARD:0022440,GARD:0010397,Rare neurologic disease +GARD:0005694,GARD:0022531,GARD:0019988,GARD:0010391,Rare genetic disease +GARD:0005695,GARD:0022520,GARD:0022104,,Rare ophthalmic disorder +GARD:0005696,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0005696,GARD:0022531,GARD:0021279,,Rare genetic disease +GARD:0005696,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0005696,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0005696,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0005696,GARD:0022531,GARD:0020099,,Rare genetic disease +GARD:0005696,GARD:0022524,GARD:0020099,,Rare neurologic disease +GARD:0005696,GARD:0022524,GARD:0021279,,Rare neurologic disease +GARD:0005697,GARD:0022525,GARD:0009568,,Rare systemic or rheumatologic disease +GARD:0005697,GARD:0022534,GARD:0009568,,Rare abdominal surgical disease +GARD:0005699,GARD:0022525,GARD:0020255,GARD:0015232,Rare systemic or rheumatologic disease +GARD:0005701,GARD:0022513,GARD:0019874,GARD:0009626,Rare developmental defect during embryogenesis +GARD:0005701,GARD:0022513,GARD:0019833,GARD:0010517,Rare developmental defect during embryogenesis +GARD:0005701,GARD:0022521,GARD:0019274,GARD:0010517,Rare endocrine disease +GARD:0005701,GARD:0022536,GARD:0019874,GARD:0009626,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005701,GARD:0022531,GARD:0021507,GARD:0010517,Rare genetic disease +GARD:0005701,GARD:0022513,GARD:0019874,GARD:0010517,Rare developmental defect during embryogenesis +GARD:0005701,GARD:0022531,GARD:0019524,GARD:0009626,Rare genetic disease +GARD:0005701,GARD:0022513,GARD:0019833,GARD:0009626,Rare developmental defect during embryogenesis +GARD:0005701,GARD:0022513,GARD:0022084,GARD:0009626,Rare developmental defect during embryogenesis +GARD:0005701,GARD:0022531,GARD:0021507,GARD:0010281,Rare genetic disease +GARD:0005701,GARD:0022520,GARD:0019524,GARD:0009626,Rare ophthalmic disorder +GARD:0005701,GARD:0022534,GARD:0019874,GARD:0010517,Rare abdominal surgical disease +GARD:0005701,GARD:0022513,GARD:0019833,GARD:0010281,Rare developmental defect during embryogenesis +GARD:0005701,GARD:0022520,GARD:0019524,GARD:0010517,Rare ophthalmic disorder +GARD:0005701,GARD:0022531,GARD:0019274,GARD:0010517,Rare genetic disease +GARD:0005701,GARD:0022513,GARD:0019874,GARD:0010281,Rare developmental defect during embryogenesis +GARD:0005701,GARD:0022531,GARD:0021507,GARD:0009626,Rare genetic disease +GARD:0005701,GARD:0022531,GARD:0019274,GARD:0010281,Rare genetic disease +GARD:0005701,GARD:0022534,GARD:0019874,GARD:0010281,Rare abdominal surgical disease +GARD:0005701,GARD:0022531,GARD:0019524,GARD:0010517,Rare genetic disease +GARD:0005701,GARD:0022536,GARD:0019874,GARD:0010281,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005701,GARD:0022531,GARD:0019524,GARD:0010281,Rare genetic disease +GARD:0005701,GARD:0022520,GARD:0019524,GARD:0010281,Rare ophthalmic disorder +GARD:0005701,GARD:0022520,GARD:0022084,GARD:0010517,Rare ophthalmic disorder +GARD:0005701,GARD:0022531,GARD:0019874,GARD:0009626,Rare genetic disease +GARD:0005701,GARD:0022513,GARD:0022084,GARD:0010281,Rare developmental defect during embryogenesis +GARD:0005701,GARD:0022521,GARD:0019274,GARD:0009626,Rare endocrine disease +GARD:0005701,GARD:0022531,GARD:0022084,GARD:0009626,Rare genetic disease +GARD:0005701,GARD:0022531,GARD:0019274,GARD:0009626,Rare genetic disease +GARD:0005701,GARD:0022531,GARD:0019874,GARD:0010281,Rare genetic disease +GARD:0005701,GARD:0022520,GARD:0022084,GARD:0009626,Rare ophthalmic disorder +GARD:0005701,GARD:0022536,GARD:0019874,GARD:0010517,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005701,GARD:0022520,GARD:0022084,GARD:0010281,Rare ophthalmic disorder +GARD:0005701,GARD:0022521,GARD:0019274,GARD:0010281,Rare endocrine disease +GARD:0005701,GARD:0022534,GARD:0019874,GARD:0009626,Rare abdominal surgical disease +GARD:0005701,GARD:0022513,GARD:0022084,GARD:0010517,Rare developmental defect during embryogenesis +GARD:0005701,GARD:0022531,GARD:0022084,GARD:0010517,Rare genetic disease +GARD:0005701,GARD:0022531,GARD:0022084,GARD:0010281,Rare genetic disease +GARD:0005701,GARD:0022531,GARD:0019874,GARD:0010517,Rare genetic disease +GARD:0005708,GARD:0022516,GARD:0019786,GARD:0000455,Rare gastroenterologic disease +GARD:0005714,GARD:0022515,GARD:0020520,GARD:0021310,Rare cardiac disease +GARD:0005714,GARD:0022531,GARD:0020520,GARD:0021746,Rare genetic disease +GARD:0005714,GARD:0022515,GARD:0020533,GARD:0021310,Rare cardiac disease +GARD:0005714,GARD:0022536,GARD:0020533,GARD:0021310,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005714,GARD:0022531,GARD:0020519,GARD:0021310,Rare genetic disease +GARD:0005714,GARD:0022508,GARD:0018973,GARD:0021310,Rare inborn errors of metabolism +GARD:0005714,GARD:0022536,GARD:0020533,GARD:0021746,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005714,GARD:0022515,GARD:0020520,GARD:0021746,Rare cardiac disease +GARD:0005714,GARD:0022536,GARD:0020519,GARD:0021746,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005714,GARD:0022536,GARD:0020520,GARD:0021310,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005714,GARD:0022531,GARD:0018973,GARD:0021746,Rare genetic disease +GARD:0005714,GARD:0022531,GARD:0021333,GARD:0021746,Rare genetic disease +GARD:0005714,GARD:0022524,GARD:0020370,GARD:0021310,Rare neurologic disease +GARD:0005714,GARD:0022515,GARD:0020519,GARD:0021746,Rare cardiac disease +GARD:0005714,GARD:0022524,GARD:0020370,GARD:0021746,Rare neurologic disease +GARD:0005714,GARD:0022531,GARD:0018973,GARD:0021310,Rare genetic disease +GARD:0005714,GARD:0022531,GARD:0020533,GARD:0021310,Rare genetic disease +GARD:0005714,GARD:0022508,GARD:0021333,GARD:0021746,Rare inborn errors of metabolism +GARD:0005714,GARD:0022531,GARD:0020519,GARD:0021746,Rare genetic disease +GARD:0005714,GARD:0022531,GARD:0020533,GARD:0021746,Rare genetic disease +GARD:0005714,GARD:0022508,GARD:0018973,GARD:0021746,Rare inborn errors of metabolism +GARD:0005714,GARD:0022515,GARD:0020519,GARD:0021310,Rare cardiac disease +GARD:0005714,GARD:0022536,GARD:0020520,GARD:0021746,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005714,GARD:0022531,GARD:0020520,GARD:0021310,Rare genetic disease +GARD:0005714,GARD:0022515,GARD:0020533,GARD:0021746,Rare cardiac disease +GARD:0005714,GARD:0022531,GARD:0020370,GARD:0021310,Rare genetic disease +GARD:0005714,GARD:0022536,GARD:0020519,GARD:0021310,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005714,GARD:0022531,GARD:0020370,GARD:0021746,Rare genetic disease +GARD:0005714,GARD:0022531,GARD:0021333,GARD:0021310,Rare genetic disease +GARD:0005714,GARD:0022508,GARD:0021333,GARD:0021310,Rare inborn errors of metabolism +GARD:0005721,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0005721,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005721,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0005721,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0005721,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0005721,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0005721,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005721,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0005721,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0005721,GARD:0022531,GARD:0021010,,Rare genetic disease +GARD:0005721,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005721,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0005723,GARD:0022508,GARD:0021356,,Rare inborn errors of metabolism +GARD:0005723,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0005723,GARD:0022510,GARD:0018978,,Rare skin disease +GARD:0005723,GARD:0022516,GARD:0019843,,Rare gastroenterologic disease +GARD:0005723,GARD:0022531,GARD:0021356,,Rare genetic disease +GARD:0005723,GARD:0022531,GARD:0019015,,Rare genetic disease +GARD:0005723,GARD:0022531,GARD:0021547,,Rare genetic disease +GARD:0005723,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0005724,GARD:0022513,GARD:0019194,GARD:0015823,Rare developmental defect during embryogenesis +GARD:0005724,GARD:0022531,GARD:0019194,GARD:0015823,Rare genetic disease +GARD:0005724,GARD:0022511,GARD:0019194,GARD:0015823,Rare bone disease +GARD:0005724,GARD:0022511,GARD:0019980,GARD:0015823,Rare bone disease +GARD:0005724,GARD:0022513,GARD:0019194,GARD:0015030,Rare developmental defect during embryogenesis +GARD:0005724,GARD:0022513,GARD:0019980,GARD:0015030,Rare developmental defect during embryogenesis +GARD:0005724,GARD:0022511,GARD:0019980,GARD:0015030,Rare bone disease +GARD:0005724,GARD:0022528,GARD:0019980,GARD:0015030,Rare otorhinolaryngologic disease +GARD:0005724,GARD:0022528,GARD:0019980,GARD:0015823,Rare otorhinolaryngologic disease +GARD:0005724,GARD:0022507,GARD:0019980,GARD:0015823,Rare maxillo-facial surgical disease +GARD:0005724,GARD:0022531,GARD:0019980,GARD:0015030,Rare genetic disease +GARD:0005724,GARD:0022531,GARD:0019194,GARD:0015030,Rare genetic disease +GARD:0005724,GARD:0022511,GARD:0019194,GARD:0015030,Rare bone disease +GARD:0005724,GARD:0022531,GARD:0019980,GARD:0015823,Rare genetic disease +GARD:0005724,GARD:0022507,GARD:0019980,GARD:0015030,Rare maxillo-facial surgical disease +GARD:0005724,GARD:0022513,GARD:0019980,GARD:0015823,Rare developmental defect during embryogenesis +GARD:0005725,GARD:0022529,GARD:0021678,GARD:0015274,Rare infertility +GARD:0005725,GARD:0022535,GARD:0016850,GARD:0015274,Rare neoplastic disease +GARD:0005725,GARD:0022521,GARD:0016850,GARD:0015274,Rare endocrine disease +GARD:0005727,GARD:0022531,GARD:0019272,,Rare genetic disease +GARD:0005727,GARD:0022521,GARD:0019272,,Rare endocrine disease +GARD:0005728,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0005732,GARD:0022506,GARD:0019255,,Rare hepatic disease +GARD:0005732,GARD:0022531,GARD:0019255,,Rare genetic disease +GARD:0005732,GARD:0022524,GARD:0019255,,Rare neurologic disease +GARD:0005732,GARD:0022508,GARD:0019255,,Rare inborn errors of metabolism +GARD:0005732,GARD:0022512,GARD:0019255,,Rare renal disease +GARD:0005732,GARD:0022510,GARD:0019255,,Rare skin disease +GARD:0005739,GARD:0022520,GARD:0019527,GARD:0015775,Rare ophthalmic disorder +GARD:0005739,GARD:0022531,GARD:0021727,GARD:0015775,Rare genetic disease +GARD:0005739,GARD:0022513,GARD:0021186,GARD:0015941,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022531,GARD:0022170,GARD:0015941,Rare genetic disease +GARD:0005739,GARD:0022520,GARD:0019527,GARD:0016142,Rare ophthalmic disorder +GARD:0005739,GARD:0022511,GARD:0022023,GARD:0016049,Rare bone disease +GARD:0005739,GARD:0022531,GARD:0022023,GARD:0015941,Rare genetic disease +GARD:0005739,GARD:0022531,GARD:0022170,GARD:0015775,Rare genetic disease +GARD:0005739,GARD:0022531,GARD:0020274,GARD:0015842,Rare genetic disease +GARD:0005739,GARD:0022531,GARD:0022170,GARD:0016049,Rare genetic disease +GARD:0005739,GARD:0022513,GARD:0019390,GARD:0015775,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022531,GARD:0020294,GARD:0015941,Rare genetic disease +GARD:0005739,GARD:0022511,GARD:0022023,GARD:0015775,Rare bone disease +GARD:0005739,GARD:0022513,GARD:0019832,GARD:0015941,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022513,GARD:0022023,GARD:0015941,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022524,GARD:0019832,GARD:0016049,Rare neurologic disease +GARD:0005739,GARD:0022531,GARD:0022170,GARD:0016142,Rare genetic disease +GARD:0005739,GARD:0022531,GARD:0022023,GARD:0015842,Rare genetic disease +GARD:0005739,GARD:0022513,GARD:0019832,GARD:0016142,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022531,GARD:0020274,GARD:0015775,Rare genetic disease +GARD:0005739,GARD:0022531,GARD:0021727,GARD:0016049,Rare genetic disease +GARD:0005739,GARD:0022513,GARD:0022023,GARD:0016142,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022520,GARD:0019527,GARD:0015842,Rare ophthalmic disorder +GARD:0005739,GARD:0022531,GARD:0020294,GARD:0015842,Rare genetic disease +GARD:0005739,GARD:0022511,GARD:0022023,GARD:0016142,Rare bone disease +GARD:0005739,GARD:0022531,GARD:0020274,GARD:0016049,Rare genetic disease +GARD:0005739,GARD:0022513,GARD:0019832,GARD:0016049,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022520,GARD:0019527,GARD:0015941,Rare ophthalmic disorder +GARD:0005739,GARD:0022510,GARD:0019009,GARD:0015941,Rare skin disease +GARD:0005739,GARD:0022510,GARD:0019009,GARD:0015775,Rare skin disease +GARD:0005739,GARD:0022531,GARD:0022023,GARD:0016049,Rare genetic disease +GARD:0005739,GARD:0022513,GARD:0019390,GARD:0016142,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022513,GARD:0021186,GARD:0016049,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022531,GARD:0021727,GARD:0016142,Rare genetic disease +GARD:0005739,GARD:0022531,GARD:0022441,GARD:0015775,Rare genetic disease +GARD:0005739,GARD:0022511,GARD:0021186,GARD:0015941,Rare bone disease +GARD:0005739,GARD:0022513,GARD:0021186,GARD:0016142,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022511,GARD:0021186,GARD:0016049,Rare bone disease +GARD:0005739,GARD:0022531,GARD:0022023,GARD:0015775,Rare genetic disease +GARD:0005739,GARD:0022513,GARD:0019832,GARD:0015842,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022531,GARD:0022441,GARD:0016142,Rare genetic disease +GARD:0005739,GARD:0022510,GARD:0019009,GARD:0016142,Rare skin disease +GARD:0005739,GARD:0022513,GARD:0019390,GARD:0015941,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022511,GARD:0021186,GARD:0015775,Rare bone disease +GARD:0005739,GARD:0022531,GARD:0022023,GARD:0016142,Rare genetic disease +GARD:0005739,GARD:0022531,GARD:0021727,GARD:0015941,Rare genetic disease +GARD:0005739,GARD:0022510,GARD:0019009,GARD:0015842,Rare skin disease +GARD:0005739,GARD:0022513,GARD:0022023,GARD:0015842,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022531,GARD:0020274,GARD:0015941,Rare genetic disease +GARD:0005739,GARD:0022524,GARD:0019832,GARD:0015775,Rare neurologic disease +GARD:0005739,GARD:0022511,GARD:0022023,GARD:0015842,Rare bone disease +GARD:0005739,GARD:0022531,GARD:0022170,GARD:0015842,Rare genetic disease +GARD:0005739,GARD:0022510,GARD:0019009,GARD:0016049,Rare skin disease +GARD:0005739,GARD:0022531,GARD:0020294,GARD:0016142,Rare genetic disease +GARD:0005739,GARD:0022513,GARD:0022023,GARD:0015775,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022531,GARD:0022441,GARD:0016049,Rare genetic disease +GARD:0005739,GARD:0022524,GARD:0019832,GARD:0015941,Rare neurologic disease +GARD:0005739,GARD:0022531,GARD:0020294,GARD:0016049,Rare genetic disease +GARD:0005739,GARD:0022520,GARD:0019527,GARD:0016049,Rare ophthalmic disorder +GARD:0005739,GARD:0022513,GARD:0022023,GARD:0016049,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022513,GARD:0019390,GARD:0015842,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022531,GARD:0020274,GARD:0016142,Rare genetic disease +GARD:0005739,GARD:0022511,GARD:0021186,GARD:0015842,Rare bone disease +GARD:0005739,GARD:0022524,GARD:0019832,GARD:0015842,Rare neurologic disease +GARD:0005739,GARD:0022513,GARD:0019832,GARD:0015775,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022513,GARD:0021186,GARD:0015842,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022511,GARD:0021186,GARD:0016142,Rare bone disease +GARD:0005739,GARD:0022531,GARD:0022441,GARD:0015941,Rare genetic disease +GARD:0005739,GARD:0022513,GARD:0021186,GARD:0015775,Rare developmental defect during embryogenesis +GARD:0005739,GARD:0022511,GARD:0022023,GARD:0015941,Rare bone disease +GARD:0005739,GARD:0022531,GARD:0020294,GARD:0015775,Rare genetic disease +GARD:0005739,GARD:0022524,GARD:0019832,GARD:0016142,Rare neurologic disease +GARD:0005739,GARD:0022531,GARD:0022441,GARD:0015842,Rare genetic disease +GARD:0005739,GARD:0022531,GARD:0021727,GARD:0015842,Rare genetic disease +GARD:0005739,GARD:0022513,GARD:0019390,GARD:0016049,Rare developmental defect during embryogenesis +GARD:0005740,GARD:0022521,GARD:0019805,GARD:0015033,Rare endocrine disease +GARD:0005747,GARD:0022535,GARD:0021370,,Rare neoplastic disease +GARD:0005747,GARD:0022526,GARD:0021370,,Rare odontologic disease +GARD:0005748,GARD:0022536,GARD:0021406,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005748,GARD:0022531,GARD:0018965,,Rare genetic disease +GARD:0005748,GARD:0022523,GARD:0021406,,Rare immune disease +GARD:0005748,GARD:0022531,GARD:0021406,,Rare genetic disease +GARD:0005748,GARD:0022508,GARD:0018965,,Rare inborn errors of metabolism +GARD:0005749,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0005750,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0005758,GARD:0022531,GARD:0006895,GARD:0010614,Rare genetic disease +GARD:0005758,GARD:0022521,GARD:0019804,GARD:0010614,Rare endocrine disease +GARD:0005758,GARD:0022531,GARD:0012470,GARD:0010614,Rare genetic disease +GARD:0005758,GARD:0022531,GARD:0012470,GARD:0009412,Rare genetic disease +GARD:0005758,GARD:0022521,GARD:0019804,GARD:0009412,Rare endocrine disease +GARD:0005758,GARD:0022521,GARD:0020233,GARD:0010614,Rare endocrine disease +GARD:0005758,GARD:0022524,GARD:0020240,GARD:0009412,Rare neurologic disease +GARD:0005758,GARD:0022531,GARD:0019804,GARD:0010614,Rare genetic disease +GARD:0005758,GARD:0022531,GARD:0020280,GARD:0010614,Rare genetic disease +GARD:0005758,GARD:0022529,GARD:0020233,GARD:0010614,Rare infertility +GARD:0005758,GARD:0022508,GARD:0012470,GARD:0009412,Rare inborn errors of metabolism +GARD:0005758,GARD:0022531,GARD:0019490,GARD:0009412,Rare genetic disease +GARD:0005758,GARD:0022524,GARD:0020240,GARD:0010614,Rare neurologic disease +GARD:0005758,GARD:0022529,GARD:0020233,GARD:0009412,Rare infertility +GARD:0005758,GARD:0022524,GARD:0006895,GARD:0009412,Rare neurologic disease +GARD:0005758,GARD:0022524,GARD:0019490,GARD:0009412,Rare neurologic disease +GARD:0005758,GARD:0022531,GARD:0018890,GARD:0010614,Rare genetic disease +GARD:0005758,GARD:0022531,GARD:0019490,GARD:0010614,Rare genetic disease +GARD:0005758,GARD:0022536,GARD:0012470,GARD:0010614,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005758,GARD:0022524,GARD:0006895,GARD:0010614,Rare neurologic disease +GARD:0005758,GARD:0022531,GARD:0020551,GARD:0009412,Rare genetic disease +GARD:0005758,GARD:0022508,GARD:0012470,GARD:0010614,Rare inborn errors of metabolism +GARD:0005758,GARD:0022531,GARD:0018890,GARD:0009412,Rare genetic disease +GARD:0005758,GARD:0022531,GARD:0020551,GARD:0010614,Rare genetic disease +GARD:0005758,GARD:0022524,GARD:0018890,GARD:0009412,Rare neurologic disease +GARD:0005758,GARD:0022531,GARD:0019804,GARD:0009412,Rare genetic disease +GARD:0005758,GARD:0022524,GARD:0019490,GARD:0010614,Rare neurologic disease +GARD:0005758,GARD:0022521,GARD:0020233,GARD:0009412,Rare endocrine disease +GARD:0005758,GARD:0022524,GARD:0018890,GARD:0010614,Rare neurologic disease +GARD:0005758,GARD:0022524,GARD:0020551,GARD:0009412,Rare neurologic disease +GARD:0005758,GARD:0022531,GARD:0020233,GARD:0009412,Rare genetic disease +GARD:0005758,GARD:0022531,GARD:0020280,GARD:0009412,Rare genetic disease +GARD:0005758,GARD:0022536,GARD:0012470,GARD:0009412,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005758,GARD:0022531,GARD:0006895,GARD:0009412,Rare genetic disease +GARD:0005758,GARD:0022531,GARD:0020233,GARD:0010614,Rare genetic disease +GARD:0005758,GARD:0022524,GARD:0020551,GARD:0010614,Rare neurologic disease +GARD:0005761,GARD:0022522,GARD:0002320,,Rare hematologic disease +GARD:0005761,GARD:0022531,GARD:0002320,,Rare genetic disease +GARD:0005764,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0005764,GARD:0022531,GARD:0021010,,Rare genetic disease +GARD:0005764,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0005764,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0005764,GARD:0022524,GARD:0020088,,Rare neurologic disease +GARD:0005764,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0005764,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0005764,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0005764,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0005764,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0005764,GARD:0022531,GARD:0020088,,Rare genetic disease +GARD:0005764,GARD:0022520,GARD:0022106,,Rare ophthalmic disorder +GARD:0005764,GARD:0022531,GARD:0022106,,Rare genetic disease +GARD:0005770,GARD:0022531,GARD:0019194,GARD:0010681,Rare genetic disease +GARD:0005770,GARD:0022521,GARD:0020650,GARD:0007860,Rare endocrine disease +GARD:0005770,GARD:0022531,GARD:0010758,GARD:0010681,Rare genetic disease +GARD:0005770,GARD:0022531,GARD:0021970,GARD:0007486,Rare genetic disease +GARD:0005770,GARD:0022531,GARD:0019531,GARD:0010681,Rare genetic disease +GARD:0005770,GARD:0022511,GARD:0019194,GARD:0007860,Rare bone disease +GARD:0005770,GARD:0022512,GARD:0010758,GARD:0007486,Rare renal disease +GARD:0005770,GARD:0022521,GARD:0010758,GARD:0007486,Rare endocrine disease +GARD:0005770,GARD:0022521,GARD:0020650,GARD:0010681,Rare endocrine disease +GARD:0005770,GARD:0022513,GARD:0020650,GARD:0007486,Rare developmental defect during embryogenesis +GARD:0005770,GARD:0022531,GARD:0019194,GARD:0007860,Rare genetic disease +GARD:0005770,GARD:0022513,GARD:0019194,GARD:0007860,Rare developmental defect during embryogenesis +GARD:0005770,GARD:0022513,GARD:0010758,GARD:0007486,Rare developmental defect during embryogenesis +GARD:0005770,GARD:0022512,GARD:0010758,GARD:0007860,Rare renal disease +GARD:0005770,GARD:0022510,GARD:0019010,GARD:0007860,Rare skin disease +GARD:0005770,GARD:0022521,GARD:0010758,GARD:0010681,Rare endocrine disease +GARD:0005770,GARD:0022531,GARD:0010758,GARD:0007486,Rare genetic disease +GARD:0005770,GARD:0022521,GARD:0020650,GARD:0007486,Rare endocrine disease +GARD:0005770,GARD:0022513,GARD:0010758,GARD:0010681,Rare developmental defect during embryogenesis +GARD:0005770,GARD:0022531,GARD:0021970,GARD:0007860,Rare genetic disease +GARD:0005770,GARD:0022513,GARD:0019194,GARD:0010681,Rare developmental defect during embryogenesis +GARD:0005770,GARD:0022531,GARD:0019531,GARD:0007860,Rare genetic disease +GARD:0005770,GARD:0022531,GARD:0021970,GARD:0010681,Rare genetic disease +GARD:0005770,GARD:0022520,GARD:0019531,GARD:0007486,Rare ophthalmic disorder +GARD:0005770,GARD:0022513,GARD:0020650,GARD:0007860,Rare developmental defect during embryogenesis +GARD:0005770,GARD:0022531,GARD:0019194,GARD:0007486,Rare genetic disease +GARD:0005770,GARD:0022521,GARD:0010758,GARD:0007860,Rare endocrine disease +GARD:0005770,GARD:0022511,GARD:0019194,GARD:0007486,Rare bone disease +GARD:0005770,GARD:0022520,GARD:0019531,GARD:0007860,Rare ophthalmic disorder +GARD:0005770,GARD:0022510,GARD:0019010,GARD:0010681,Rare skin disease +GARD:0005770,GARD:0022531,GARD:0020650,GARD:0007486,Rare genetic disease +GARD:0005770,GARD:0022510,GARD:0019010,GARD:0007486,Rare skin disease +GARD:0005770,GARD:0022511,GARD:0019194,GARD:0010681,Rare bone disease +GARD:0005770,GARD:0022513,GARD:0020650,GARD:0010681,Rare developmental defect during embryogenesis +GARD:0005770,GARD:0022531,GARD:0010758,GARD:0007860,Rare genetic disease +GARD:0005770,GARD:0022513,GARD:0019194,GARD:0007486,Rare developmental defect during embryogenesis +GARD:0005770,GARD:0022513,GARD:0010758,GARD:0007860,Rare developmental defect during embryogenesis +GARD:0005770,GARD:0022520,GARD:0019531,GARD:0010681,Rare ophthalmic disorder +GARD:0005770,GARD:0022531,GARD:0019531,GARD:0007486,Rare genetic disease +GARD:0005770,GARD:0022531,GARD:0020650,GARD:0007860,Rare genetic disease +GARD:0005770,GARD:0022512,GARD:0010758,GARD:0010681,Rare renal disease +GARD:0005770,GARD:0022531,GARD:0020650,GARD:0010681,Rare genetic disease +GARD:0005774,GARD:0022531,GARD:0020280,GARD:0017573,Rare genetic disease +GARD:0005774,GARD:0022531,GARD:0006895,GARD:0017572,Rare genetic disease +GARD:0005774,GARD:0022524,GARD:0020240,GARD:0017572,Rare neurologic disease +GARD:0005774,GARD:0022531,GARD:0006895,GARD:0017573,Rare genetic disease +GARD:0005774,GARD:0022524,GARD:0006895,GARD:0017572,Rare neurologic disease +GARD:0005774,GARD:0022524,GARD:0020240,GARD:0017573,Rare neurologic disease +GARD:0005774,GARD:0022531,GARD:0020280,GARD:0017572,Rare genetic disease +GARD:0005774,GARD:0022524,GARD:0006895,GARD:0017573,Rare neurologic disease +GARD:0005775,GARD:0022531,GARD:0019015,,Rare genetic disease +GARD:0005775,GARD:0022520,GARD:0022094,,Rare ophthalmic disorder +GARD:0005775,GARD:0022510,GARD:0018978,,Rare skin disease +GARD:0005775,GARD:0022508,GARD:0021127,,Rare inborn errors of metabolism +GARD:0005775,GARD:0022531,GARD:0021127,,Rare genetic disease +GARD:0005775,GARD:0022531,GARD:0022094,,Rare genetic disease +GARD:0005783,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0005783,GARD:0022531,GARD:0020555,,Rare genetic disease +GARD:0005783,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0005783,GARD:0022524,GARD:0020555,,Rare neurologic disease +GARD:0005783,GARD:0022508,GARD:0020769,,Rare inborn errors of metabolism +GARD:0005783,GARD:0022531,GARD:0020556,,Rare genetic disease +GARD:0005783,GARD:0022531,GARD:0020769,,Rare genetic disease +GARD:0005783,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0005783,GARD:0022524,GARD:0020556,,Rare neurologic disease +GARD:0005783,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0005783,GARD:0022506,GARD:0020769,,Rare hepatic disease +GARD:0005784,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0005784,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0005784,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0005784,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0005784,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0005784,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0005784,GARD:0022531,GARD:0019152,,Rare genetic disease +GARD:0005784,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005784,GARD:0022508,GARD:0019152,,Rare inborn errors of metabolism +GARD:0005784,GARD:0022531,GARD:0020684,,Rare genetic disease +GARD:0005785,GARD:0022531,GARD:0019145,GARD:0016774,Rare genetic disease +GARD:0005785,GARD:0022531,GARD:0019530,GARD:0002432,Rare genetic disease +GARD:0005785,GARD:0022531,GARD:0019530,GARD:0016774,Rare genetic disease +GARD:0005785,GARD:0022513,GARD:0019145,GARD:0000624,Rare developmental defect during embryogenesis +GARD:0005785,GARD:0022512,GARD:0022237,GARD:0002432,Rare renal disease +GARD:0005785,GARD:0022513,GARD:0019145,GARD:0000625,Rare developmental defect during embryogenesis +GARD:0005785,GARD:0022520,GARD:0019530,GARD:0016774,Rare ophthalmic disorder +GARD:0005785,GARD:0022531,GARD:0022237,GARD:0016774,Rare genetic disease +GARD:0005785,GARD:0022531,GARD:0019145,GARD:0000625,Rare genetic disease +GARD:0005785,GARD:0022531,GARD:0019530,GARD:0000625,Rare genetic disease +GARD:0005785,GARD:0022531,GARD:0019145,GARD:0000624,Rare genetic disease +GARD:0005785,GARD:0022531,GARD:0022237,GARD:0002432,Rare genetic disease +GARD:0005785,GARD:0022536,GARD:0022237,GARD:0016774,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005785,GARD:0022520,GARD:0019530,GARD:0002432,Rare ophthalmic disorder +GARD:0005785,GARD:0022520,GARD:0019530,GARD:0000625,Rare ophthalmic disorder +GARD:0005785,GARD:0022531,GARD:0019536,GARD:0002432,Rare genetic disease +GARD:0005785,GARD:0022513,GARD:0019536,GARD:0016774,Rare developmental defect during embryogenesis +GARD:0005785,GARD:0022531,GARD:0022237,GARD:0000624,Rare genetic disease +GARD:0005785,GARD:0022520,GARD:0019536,GARD:0000625,Rare ophthalmic disorder +GARD:0005785,GARD:0022520,GARD:0019536,GARD:0002432,Rare ophthalmic disorder +GARD:0005785,GARD:0022536,GARD:0022237,GARD:0000624,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005785,GARD:0022513,GARD:0019145,GARD:0002432,Rare developmental defect during embryogenesis +GARD:0005785,GARD:0022512,GARD:0022237,GARD:0000624,Rare renal disease +GARD:0005785,GARD:0022520,GARD:0019536,GARD:0016774,Rare ophthalmic disorder +GARD:0005785,GARD:0022520,GARD:0019536,GARD:0000624,Rare ophthalmic disorder +GARD:0005785,GARD:0022531,GARD:0019536,GARD:0000625,Rare genetic disease +GARD:0005785,GARD:0022531,GARD:0022237,GARD:0000625,Rare genetic disease +GARD:0005785,GARD:0022513,GARD:0019536,GARD:0002432,Rare developmental defect during embryogenesis +GARD:0005785,GARD:0022513,GARD:0019536,GARD:0000625,Rare developmental defect during embryogenesis +GARD:0005785,GARD:0022528,GARD:0019145,GARD:0002432,Rare otorhinolaryngologic disease +GARD:0005785,GARD:0022513,GARD:0019145,GARD:0016774,Rare developmental defect during embryogenesis +GARD:0005785,GARD:0022512,GARD:0022237,GARD:0000625,Rare renal disease +GARD:0005785,GARD:0022531,GARD:0019145,GARD:0002432,Rare genetic disease +GARD:0005785,GARD:0022531,GARD:0019536,GARD:0000624,Rare genetic disease +GARD:0005785,GARD:0022512,GARD:0022237,GARD:0016774,Rare renal disease +GARD:0005785,GARD:0022531,GARD:0019530,GARD:0000624,Rare genetic disease +GARD:0005785,GARD:0022536,GARD:0022237,GARD:0002432,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005785,GARD:0022528,GARD:0019145,GARD:0016774,Rare otorhinolaryngologic disease +GARD:0005785,GARD:0022520,GARD:0019530,GARD:0000624,Rare ophthalmic disorder +GARD:0005785,GARD:0022528,GARD:0019145,GARD:0000624,Rare otorhinolaryngologic disease +GARD:0005785,GARD:0022513,GARD:0019536,GARD:0000624,Rare developmental defect during embryogenesis +GARD:0005785,GARD:0022531,GARD:0019536,GARD:0016774,Rare genetic disease +GARD:0005785,GARD:0022536,GARD:0022237,GARD:0000625,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005785,GARD:0022528,GARD:0019145,GARD:0000625,Rare otorhinolaryngologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0009874,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0018619,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0015663,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0015980,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0010501,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0015138,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0016265,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0016262,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0015733,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0016113,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0016068,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0015322,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0010499,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0016068,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0015733,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0015540,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0015964,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0016427,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0016113,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0010500,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0010500,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0015138,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0016265,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0015663,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0010498,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0015269,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0015540,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0015980,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0015964,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0015841,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0015841,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0010498,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0010499,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0009874,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0015269,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0010496,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0018619,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0016425,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0010496,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0016427,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0015322,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0016425,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0019477,GARD:0016262,Rare neurologic disease +GARD:0005786,GARD:0022524,GARD:0020240,GARD:0010501,Rare neurologic disease +GARD:0005787,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0005787,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0005787,GARD:0022531,GARD:0020529,,Rare genetic disease +GARD:0005787,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005787,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0005787,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0005787,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0005787,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0005787,GARD:0022531,GARD:0020312,,Rare genetic disease +GARD:0005787,GARD:0022531,GARD:0019987,,Rare genetic disease +GARD:0005787,GARD:0022521,GARD:0020216,,Rare endocrine disease +GARD:0005787,GARD:0022515,GARD:0020529,,Rare cardiac disease +GARD:0005787,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0005787,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0005787,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0005787,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0005787,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0005787,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0005787,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0005787,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0005787,GARD:0022536,GARD:0020529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005787,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0005791,GARD:0022526,GARD:0020055,GARD:0000645,Rare odontologic disease +GARD:0005791,GARD:0022531,GARD:0021748,GARD:0000645,Rare genetic disease +GARD:0005791,GARD:0022531,GARD:0021748,GARD:0008349,Rare genetic disease +GARD:0005791,GARD:0022531,GARD:0021748,GARD:0016932,Rare genetic disease +GARD:0005791,GARD:0022526,GARD:0020055,GARD:0016931,Rare odontologic disease +GARD:0005791,GARD:0022526,GARD:0020055,GARD:0016932,Rare odontologic disease +GARD:0005791,GARD:0022526,GARD:0020055,GARD:0008349,Rare odontologic disease +GARD:0005791,GARD:0022531,GARD:0021748,GARD:0016931,Rare genetic disease +GARD:0005797,GARD:0022536,GARD:0018676,GARD:0021387,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005797,GARD:0022515,GARD:0020535,GARD:0017431,Rare cardiac disease +GARD:0005797,GARD:0022536,GARD:0022291,GARD:0017431,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005797,GARD:0022512,GARD:0022291,GARD:0021387,Rare renal disease +GARD:0005797,GARD:0022535,GARD:0019440,GARD:0017431,Rare neoplastic disease +GARD:0005797,GARD:0022515,GARD:0020535,GARD:0021387,Rare cardiac disease +GARD:0005797,GARD:0022515,GARD:0020524,GARD:0017431,Rare cardiac disease +GARD:0005797,GARD:0022525,GARD:0018676,GARD:0017431,Rare systemic or rheumatologic disease +GARD:0005797,GARD:0022512,GARD:0022291,GARD:0017431,Rare renal disease +GARD:0005797,GARD:0022536,GARD:0022291,GARD:0021387,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005797,GARD:0022536,GARD:0018676,GARD:0017431,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005797,GARD:0022536,GARD:0019440,GARD:0017431,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005797,GARD:0022522,GARD:0019440,GARD:0021387,Rare hematologic disease +GARD:0005797,GARD:0022525,GARD:0018676,GARD:0021387,Rare systemic or rheumatologic disease +GARD:0005797,GARD:0022536,GARD:0020524,GARD:0021387,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005797,GARD:0022536,GARD:0020524,GARD:0017431,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005797,GARD:0022535,GARD:0019440,GARD:0021387,Rare neoplastic disease +GARD:0005797,GARD:0022515,GARD:0020524,GARD:0021387,Rare cardiac disease +GARD:0005797,GARD:0022536,GARD:0019440,GARD:0021387,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005797,GARD:0022524,GARD:0020418,GARD:0017431,Rare neurologic disease +GARD:0005797,GARD:0022522,GARD:0019440,GARD:0017431,Rare hematologic disease +GARD:0005797,GARD:0022524,GARD:0020418,GARD:0021387,Rare neurologic disease +GARD:0005802,GARD:0022513,GARD:0021570,,Rare developmental defect during embryogenesis +GARD:0005802,GARD:0022511,GARD:0021570,,Rare bone disease +GARD:0005802,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0005802,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0005802,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005802,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0005802,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0005802,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0005802,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0005802,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0005802,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0005802,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005802,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005802,GARD:0022531,GARD:0021570,,Rare genetic disease +GARD:0005802,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0005802,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0005802,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0005803,GARD:0022531,GARD:0021484,GARD:0005692,Rare genetic disease +GARD:0005803,GARD:0022521,GARD:0021470,GARD:0005692,Rare endocrine disease +GARD:0005803,GARD:0022513,GARD:0021470,GARD:0010597,Rare developmental defect during embryogenesis +GARD:0005803,GARD:0022531,GARD:0021478,GARD:0010597,Rare genetic disease +GARD:0005803,GARD:0022529,GARD:0021672,GARD:0010597,Rare infertility +GARD:0005803,GARD:0022514,GARD:0021478,GARD:0010597,Rare gynecologic or obstetric disease +GARD:0005803,GARD:0022531,GARD:0021484,GARD:0010597,Rare genetic disease +GARD:0005803,GARD:0022521,GARD:0021470,GARD:0010597,Rare endocrine disease +GARD:0005803,GARD:0022531,GARD:0021672,GARD:0010597,Rare genetic disease +GARD:0005803,GARD:0022514,GARD:0021478,GARD:0005692,Rare gynecologic or obstetric disease +GARD:0005803,GARD:0022531,GARD:0021672,GARD:0005692,Rare genetic disease +GARD:0005803,GARD:0022529,GARD:0021672,GARD:0005692,Rare infertility +GARD:0005803,GARD:0022531,GARD:0021478,GARD:0005692,Rare genetic disease +GARD:0005803,GARD:0022532,GARD:0021470,GARD:0010597,Rare urogenital disease +GARD:0005803,GARD:0022532,GARD:0021470,GARD:0005692,Rare urogenital disease +GARD:0005803,GARD:0022513,GARD:0021470,GARD:0005692,Rare developmental defect during embryogenesis +GARD:0005808,GARD:0022524,GARD:0017268,GARD:0022255,Rare neurologic disease +GARD:0005808,GARD:0022524,GARD:0019832,GARD:0022254,Rare neurologic disease +GARD:0005808,GARD:0022513,GARD:0019832,GARD:0022255,Rare developmental defect during embryogenesis +GARD:0005808,GARD:0022524,GARD:0019832,GARD:0022255,Rare neurologic disease +GARD:0005808,GARD:0022513,GARD:0017268,GARD:0022254,Rare developmental defect during embryogenesis +GARD:0005808,GARD:0022513,GARD:0019832,GARD:0022254,Rare developmental defect during embryogenesis +GARD:0005808,GARD:0022524,GARD:0017268,GARD:0022254,Rare neurologic disease +GARD:0005808,GARD:0022513,GARD:0017268,GARD:0022255,Rare developmental defect during embryogenesis +GARD:0005810,GARD:0022513,GARD:0019832,GARD:0019577,Rare developmental defect during embryogenesis +GARD:0005810,GARD:0022531,GARD:0020085,GARD:0019577,Rare genetic disease +GARD:0005810,GARD:0022524,GARD:0019832,GARD:0021733,Rare neurologic disease +GARD:0005810,GARD:0022524,GARD:0019389,GARD:0021732,Rare neurologic disease +GARD:0005810,GARD:0022524,GARD:0020085,GARD:0019577,Rare neurologic disease +GARD:0005810,GARD:0022524,GARD:0019832,GARD:0019577,Rare neurologic disease +GARD:0005810,GARD:0022531,GARD:0020085,GARD:0021733,Rare genetic disease +GARD:0005810,GARD:0022531,GARD:0020085,GARD:0019578,Rare genetic disease +GARD:0005810,GARD:0022513,GARD:0019832,GARD:0019578,Rare developmental defect during embryogenesis +GARD:0005810,GARD:0022531,GARD:0022441,GARD:0021733,Rare genetic disease +GARD:0005810,GARD:0022524,GARD:0020085,GARD:0019578,Rare neurologic disease +GARD:0005810,GARD:0022524,GARD:0020085,GARD:0021732,Rare neurologic disease +GARD:0005810,GARD:0022524,GARD:0019389,GARD:0019578,Rare neurologic disease +GARD:0005810,GARD:0022531,GARD:0022441,GARD:0021732,Rare genetic disease +GARD:0005810,GARD:0022531,GARD:0022441,GARD:0019578,Rare genetic disease +GARD:0005810,GARD:0022531,GARD:0022441,GARD:0019577,Rare genetic disease +GARD:0005810,GARD:0022524,GARD:0019832,GARD:0021732,Rare neurologic disease +GARD:0005810,GARD:0022513,GARD:0019832,GARD:0021733,Rare developmental defect during embryogenesis +GARD:0005810,GARD:0022524,GARD:0019389,GARD:0019577,Rare neurologic disease +GARD:0005810,GARD:0022524,GARD:0020085,GARD:0021733,Rare neurologic disease +GARD:0005810,GARD:0022524,GARD:0019832,GARD:0019578,Rare neurologic disease +GARD:0005810,GARD:0022531,GARD:0020085,GARD:0021732,Rare genetic disease +GARD:0005810,GARD:0022513,GARD:0019832,GARD:0021732,Rare developmental defect during embryogenesis +GARD:0005810,GARD:0022524,GARD:0019389,GARD:0021733,Rare neurologic disease +GARD:0005816,GARD:0022531,GARD:0016484,GARD:0016200,Rare genetic disease +GARD:0005816,GARD:0022531,GARD:0022170,GARD:0016201,Rare genetic disease +GARD:0005816,GARD:0022531,GARD:0022170,GARD:0016200,Rare genetic disease +GARD:0005816,GARD:0022520,GARD:0016484,GARD:0016201,Rare ophthalmic disorder +GARD:0005816,GARD:0022520,GARD:0019527,GARD:0016201,Rare ophthalmic disorder +GARD:0005816,GARD:0022513,GARD:0016484,GARD:0016201,Rare developmental defect during embryogenesis +GARD:0005816,GARD:0022513,GARD:0016484,GARD:0016200,Rare developmental defect during embryogenesis +GARD:0005816,GARD:0022531,GARD:0016484,GARD:0016201,Rare genetic disease +GARD:0005816,GARD:0022520,GARD:0019527,GARD:0016200,Rare ophthalmic disorder +GARD:0005816,GARD:0022520,GARD:0016484,GARD:0016200,Rare ophthalmic disorder +GARD:0005818,GARD:0022531,GARD:0021748,,Rare genetic disease +GARD:0005818,GARD:0022526,GARD:0020055,,Rare odontologic disease +GARD:0005819,GARD:0022529,GARD:0019445,,Rare infertility +GARD:0005819,GARD:0022513,GARD:0021468,,Rare developmental defect during embryogenesis +GARD:0005819,GARD:0022531,GARD:0019445,,Rare genetic disease +GARD:0005819,GARD:0022521,GARD:0021468,,Rare endocrine disease +GARD:0005819,GARD:0022531,GARD:0021468,,Rare genetic disease +GARD:0005819,GARD:0022532,GARD:0021468,,Rare urogenital disease +GARD:0005824,GARD:0022514,GARD:0020049,,Rare gynecologic or obstetric disease +GARD:0005824,GARD:0022522,GARD:0020678,,Rare hematologic disease +GARD:0005824,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0005826,GARD:0022511,GARD:0019911,GARD:0022389,Rare bone disease +GARD:0005826,GARD:0022511,GARD:0019911,GARD:0016665,Rare bone disease +GARD:0005826,GARD:0022513,GARD:0019832,GARD:0016665,Rare developmental defect during embryogenesis +GARD:0005826,GARD:0022513,GARD:0019911,GARD:0022389,Rare developmental defect during embryogenesis +GARD:0005826,GARD:0022513,GARD:0019832,GARD:0022389,Rare developmental defect during embryogenesis +GARD:0005826,GARD:0022513,GARD:0019911,GARD:0016665,Rare developmental defect during embryogenesis +GARD:0005826,GARD:0022531,GARD:0019911,GARD:0022389,Rare genetic disease +GARD:0005826,GARD:0022531,GARD:0022441,GARD:0022389,Rare genetic disease +GARD:0005826,GARD:0022531,GARD:0019911,GARD:0016665,Rare genetic disease +GARD:0005826,GARD:0022531,GARD:0022441,GARD:0016665,Rare genetic disease +GARD:0005826,GARD:0022524,GARD:0019832,GARD:0022389,Rare neurologic disease +GARD:0005826,GARD:0022524,GARD:0019832,GARD:0016665,Rare neurologic disease +GARD:0005828,GARD:0022527,GARD:0019552,GARD:0018723,Rare circulatory system disease +GARD:0005828,GARD:0022519,GARD:0019552,GARD:0018722,Rare surgical cardiac disease +GARD:0005828,GARD:0022513,GARD:0019552,GARD:0018722,Rare developmental defect during embryogenesis +GARD:0005828,GARD:0022527,GARD:0019552,GARD:0018722,Rare circulatory system disease +GARD:0005828,GARD:0022519,GARD:0019552,GARD:0018723,Rare surgical cardiac disease +GARD:0005828,GARD:0022513,GARD:0019552,GARD:0018723,Rare developmental defect during embryogenesis +GARD:0005833,GARD:0022531,GARD:0019898,,Rare genetic disease +GARD:0005833,GARD:0022531,GARD:0019533,,Rare genetic disease +GARD:0005833,GARD:0022531,GARD:0019543,,Rare genetic disease +GARD:0005833,GARD:0022520,GARD:0019533,,Rare ophthalmic disorder +GARD:0005833,GARD:0022513,GARD:0019898,,Rare developmental defect during embryogenesis +GARD:0005833,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0005833,GARD:0022507,GARD:0019898,,Rare maxillo-facial surgical disease +GARD:0005833,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005833,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005833,GARD:0022520,GARD:0019543,,Rare ophthalmic disorder +GARD:0005833,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0005833,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005833,GARD:0022528,GARD:0019898,,Rare otorhinolaryngologic disease +GARD:0005833,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0005835,GARD:0022531,GARD:0020274,,Rare genetic disease +GARD:0005835,GARD:0022510,GARD:0019009,,Rare skin disease +GARD:0005835,GARD:0022531,GARD:0020294,,Rare genetic disease +GARD:0005835,GARD:0022513,GARD:0019390,,Rare developmental defect during embryogenesis +GARD:0005836,GARD:0022536,GARD:0020058,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005836,GARD:0022522,GARD:0020058,,Rare hematologic disease +GARD:0005839,GARD:0022524,GARD:0022524,GARD:0015113,Rare neurologic disease +GARD:0005840,GARD:0022508,GARD:0007837,,Rare inborn errors of metabolism +GARD:0005840,GARD:0022531,GARD:0007837,,Rare genetic disease +GARD:0005843,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0005843,GARD:0022531,GARD:0007837,,Rare genetic disease +GARD:0005843,GARD:0022508,GARD:0007837,,Rare inborn errors of metabolism +GARD:0005843,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0005847,GARD:0022531,GARD:0019399,GARD:0009795,Rare genetic disease +GARD:0005847,GARD:0022515,GARD:0020096,GARD:0009795,Rare cardiac disease +GARD:0005847,GARD:0022515,GARD:0020096,GARD:0017129,Rare cardiac disease +GARD:0005847,GARD:0022531,GARD:0019399,GARD:0017129,Rare genetic disease +GARD:0005847,GARD:0022536,GARD:0022065,GARD:0017129,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005847,GARD:0022536,GARD:0022065,GARD:0009795,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005852,GARD:0022536,GARD:0020245,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005852,GARD:0022517,GARD:0020245,,Rare respiratory disease +GARD:0005853,GARD:0022514,GARD:0020199,,Rare gynecologic or obstetric disease +GARD:0005854,GARD:0022531,GARD:0019203,,Rare genetic disease +GARD:0005854,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0005854,GARD:0022511,GARD:0019203,,Rare bone disease +GARD:0005854,GARD:0022524,GARD:0020550,,Rare neurologic disease +GARD:0005854,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0005854,GARD:0022531,GARD:0018977,,Rare genetic disease +GARD:0005854,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0005854,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0005854,GARD:0022508,GARD:0018977,,Rare inborn errors of metabolism +GARD:0005854,GARD:0022531,GARD:0020550,,Rare genetic disease +GARD:0005856,GARD:0022509,GARD:0020047,GARD:0015752,Rare infectious disease +GARD:0005860,GARD:0022524,GARD:0020704,,Rare neurologic disease +GARD:0005860,GARD:0022535,GARD:0020704,,Rare neoplastic disease +GARD:0005862,GARD:0022521,GARD:0019294,GARD:0015141,Rare endocrine disease +GARD:0005862,GARD:0022524,GARD:0022440,GARD:0015141,Rare neurologic disease +GARD:0005862,GARD:0022520,GARD:0022115,GARD:0015141,Rare ophthalmic disorder +GARD:0005862,GARD:0022520,GARD:0019542,GARD:0015141,Rare ophthalmic disorder +GARD:0005862,GARD:0022531,GARD:0020114,GARD:0015141,Rare genetic disease +GARD:0005862,GARD:0022531,GARD:0022440,GARD:0015141,Rare genetic disease +GARD:0005862,GARD:0022531,GARD:0022157,GARD:0015141,Rare genetic disease +GARD:0005862,GARD:0022531,GARD:0019904,GARD:0015141,Rare genetic disease +GARD:0005862,GARD:0022531,GARD:0019414,GARD:0015141,Rare genetic disease +GARD:0005862,GARD:0022514,GARD:0019294,GARD:0015141,Rare gynecologic or obstetric disease +GARD:0005862,GARD:0022531,GARD:0022150,GARD:0015141,Rare genetic disease +GARD:0005862,GARD:0022523,GARD:0020114,GARD:0015141,Rare immune disease +GARD:0005862,GARD:0022513,GARD:0019904,GARD:0015141,Rare developmental defect during embryogenesis +GARD:0005862,GARD:0022531,GARD:0020273,GARD:0015141,Rare genetic disease +GARD:0005862,GARD:0022536,GARD:0020114,GARD:0015141,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005862,GARD:0022535,GARD:0020259,GARD:0015141,Rare neoplastic disease +GARD:0005862,GARD:0022510,GARD:0019008,GARD:0015141,Rare skin disease +GARD:0005862,GARD:0022524,GARD:0020742,GARD:0015141,Rare neurologic disease +GARD:0005862,GARD:0022531,GARD:0020259,GARD:0015141,Rare genetic disease +GARD:0005862,GARD:0022531,GARD:0021992,GARD:0015141,Rare genetic disease +GARD:0005862,GARD:0022524,GARD:0019414,GARD:0015141,Rare neurologic disease +GARD:0005864,GARD:0022514,GARD:0021479,GARD:0003521,Rare gynecologic or obstetric disease +GARD:0005864,GARD:0022531,GARD:0022441,GARD:0003521,Rare genetic disease +GARD:0005864,GARD:0022513,GARD:0019411,GARD:0003521,Rare developmental defect during embryogenesis +GARD:0005864,GARD:0022536,GARD:0020627,GARD:0003521,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005864,GARD:0022524,GARD:0019832,GARD:0003521,Rare neurologic disease +GARD:0005864,GARD:0022531,GARD:0020627,GARD:0003521,Rare genetic disease +GARD:0005864,GARD:0022531,GARD:0019411,GARD:0003521,Rare genetic disease +GARD:0005864,GARD:0022513,GARD:0019832,GARD:0003521,Rare developmental defect during embryogenesis +GARD:0005864,GARD:0022521,GARD:0019411,GARD:0003521,Rare endocrine disease +GARD:0005864,GARD:0022522,GARD:0020627,GARD:0003521,Rare hematologic disease +GARD:0005864,GARD:0022531,GARD:0021479,GARD:0003521,Rare genetic disease +GARD:0005864,GARD:0022532,GARD:0019411,GARD:0003521,Rare urogenital disease +GARD:0005865,GARD:0022519,GARD:0015018,GARD:0015512,Rare surgical cardiac disease +GARD:0005865,GARD:0022519,GARD:0015018,GARD:0015755,Rare surgical cardiac disease +GARD:0005865,GARD:0022531,GARD:0015018,GARD:0015512,Rare genetic disease +GARD:0005865,GARD:0022531,GARD:0015018,GARD:0015755,Rare genetic disease +GARD:0005865,GARD:0022513,GARD:0015018,GARD:0015512,Rare developmental defect during embryogenesis +GARD:0005865,GARD:0022513,GARD:0015018,GARD:0015755,Rare developmental defect during embryogenesis +GARD:0005867,GARD:0022521,GARD:0012602,GARD:0019128,Rare endocrine disease +GARD:0005867,GARD:0022521,GARD:0012602,GARD:0019127,Rare endocrine disease +GARD:0005867,GARD:0022521,GARD:0012602,GARD:0019126,Rare endocrine disease +GARD:0005867,GARD:0022510,GARD:0012602,GARD:0019128,Rare skin disease +GARD:0005867,GARD:0022510,GARD:0012602,GARD:0019127,Rare skin disease +GARD:0005867,GARD:0022521,GARD:0012602,GARD:0019125,Rare endocrine disease +GARD:0005867,GARD:0022521,GARD:0012602,GARD:0019129,Rare endocrine disease +GARD:0005867,GARD:0022510,GARD:0012602,GARD:0019129,Rare skin disease +GARD:0005867,GARD:0022510,GARD:0012602,GARD:0019126,Rare skin disease +GARD:0005867,GARD:0022510,GARD:0012602,GARD:0019125,Rare skin disease +GARD:0005870,GARD:0022522,GARD:0020236,GARD:0017737,Rare hematologic disease +GARD:0005870,GARD:0022522,GARD:0020236,GARD:0006389,Rare hematologic disease +GARD:0005870,GARD:0022522,GARD:0020236,GARD:0007876,Rare hematologic disease +GARD:0005870,GARD:0022522,GARD:0020236,GARD:0020590,Rare hematologic disease +GARD:0005870,GARD:0022522,GARD:0020236,GARD:0019101,Rare hematologic disease +GARD:0005870,GARD:0022522,GARD:0020236,GARD:0019102,Rare hematologic disease +GARD:0005871,GARD:0022536,GARD:0022060,GARD:0022251,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005871,GARD:0022506,GARD:0019789,GARD:0022253,Rare hepatic disease +GARD:0005871,GARD:0022506,GARD:0019789,GARD:0022252,Rare hepatic disease +GARD:0005871,GARD:0022506,GARD:0019789,GARD:0022251,Rare hepatic disease +GARD:0005871,GARD:0022536,GARD:0022060,GARD:0022252,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005871,GARD:0022536,GARD:0022060,GARD:0022253,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005878,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0005885,GARD:0022524,GARD:0020571,,Rare neurologic disease +GARD:0005887,GARD:0022513,GARD:0020465,,Rare developmental defect during embryogenesis +GARD:0005887,GARD:0022535,GARD:0019847,,Rare neoplastic disease +GARD:0005887,GARD:0022516,GARD:0019847,,Rare gastroenterologic disease +GARD:0005887,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005887,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005887,GARD:0022531,GARD:0012800,,Rare genetic disease +GARD:0005887,GARD:0022513,GARD:0012800,,Rare developmental defect during embryogenesis +GARD:0005887,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0005887,GARD:0022531,GARD:0021922,,Rare genetic disease +GARD:0005887,GARD:0022527,GARD:0020465,,Rare circulatory system disease +GARD:0005887,GARD:0022531,GARD:0021548,,Rare genetic disease +GARD:0005887,GARD:0022510,GARD:0012800,,Rare skin disease +GARD:0005887,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005887,GARD:0022535,GARD:0012800,,Rare neoplastic disease +GARD:0005887,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0005887,GARD:0022536,GARD:0019847,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005887,GARD:0022531,GARD:0019847,,Rare genetic disease +GARD:0005890,GARD:0022536,GARD:0021508,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005890,GARD:0022531,GARD:0021508,,Rare genetic disease +GARD:0005890,GARD:0022523,GARD:0021508,,Rare immune disease +GARD:0005890,GARD:0022536,GARD:0020527,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005890,GARD:0022508,GARD:0021519,,Rare inborn errors of metabolism +GARD:0005890,GARD:0022531,GARD:0021519,,Rare genetic disease +GARD:0005890,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0005890,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0005890,GARD:0022515,GARD:0020527,,Rare cardiac disease +GARD:0005890,GARD:0022531,GARD:0012966,,Rare genetic disease +GARD:0005890,GARD:0022508,GARD:0012966,,Rare inborn errors of metabolism +GARD:0005890,GARD:0022531,GARD:0020527,,Rare genetic disease +GARD:0005893,GARD:0022512,GARD:0019230,GARD:0010508,Rare renal disease +GARD:0005893,GARD:0022531,GARD:0020306,GARD:0022308,Rare genetic disease +GARD:0005893,GARD:0022531,GARD:0020306,GARD:0022483,Rare genetic disease +GARD:0005893,GARD:0022512,GARD:0019230,GARD:0022483,Rare renal disease +GARD:0005893,GARD:0022512,GARD:0019230,GARD:0022308,Rare renal disease +GARD:0005893,GARD:0022512,GARD:0019230,GARD:0022482,Rare renal disease +GARD:0005893,GARD:0022531,GARD:0020306,GARD:0010508,Rare genetic disease +GARD:0005893,GARD:0022531,GARD:0020306,GARD:0009659,Rare genetic disease +GARD:0005893,GARD:0022531,GARD:0020306,GARD:0022482,Rare genetic disease +GARD:0005893,GARD:0022512,GARD:0019230,GARD:0009659,Rare renal disease +GARD:0005897,GARD:0022531,GARD:0004938,,Rare genetic disease +GARD:0005897,GARD:0022524,GARD:0004938,,Rare neurologic disease +GARD:0005897,GARD:0022508,GARD:0004938,,Rare inborn errors of metabolism +GARD:0005897,GARD:0022520,GARD:0004938,,Rare ophthalmic disorder +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0011915,Rare neurologic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0021445,Rare genetic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0012720,Rare neurologic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0020134,Rare neurologic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0000101,Rare neurologic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0012199,Rare neurologic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0008432,Rare genetic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0017989,Rare neurologic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0012162,Rare genetic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0017111,Rare neurologic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0017553,Rare neurologic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0012199,Rare genetic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0003884,Rare genetic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0003889,Rare genetic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0003889,Rare neurologic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0016869,Rare genetic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0016869,Rare neurologic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0011906,Rare neurologic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0007148,Rare genetic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0019354,Rare genetic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0021901,Rare neurologic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0008432,Rare neurologic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0017840,Rare genetic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0020129,Rare genetic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0006161,Rare neurologic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0000371,Rare neurologic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0017553,Rare genetic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0021445,Rare neurologic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0008433,Rare genetic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0021901,Rare genetic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0000371,Rare genetic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0001358,Rare genetic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0021783,Rare neurologic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0020134,Rare genetic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0012720,Rare genetic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0012162,Rare neurologic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0011906,Rare genetic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0017778,Rare neurologic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0007148,Rare neurologic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0017840,Rare neurologic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0000101,Rare genetic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0019354,Rare neurologic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0021783,Rare genetic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0020129,Rare neurologic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0003884,Rare neurologic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0008433,Rare neurologic disease +GARD:0005898,GARD:0022524,GARD:0020363,GARD:0001358,Rare neurologic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0017778,Rare genetic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0017989,Rare genetic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0017111,Rare genetic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0011915,Rare genetic disease +GARD:0005898,GARD:0022531,GARD:0020363,GARD:0006161,Rare genetic disease +GARD:0005899,GARD:0022531,GARD:0021129,,Rare genetic disease +GARD:0005899,GARD:0022511,GARD:0022021,,Rare bone disease +GARD:0005899,GARD:0022531,GARD:0000786,,Rare genetic disease +GARD:0005899,GARD:0022513,GARD:0022021,,Rare developmental defect during embryogenesis +GARD:0005899,GARD:0022513,GARD:0000786,,Rare developmental defect during embryogenesis +GARD:0005899,GARD:0022525,GARD:0021129,,Rare systemic or rheumatologic disease +GARD:0005899,GARD:0022531,GARD:0022021,,Rare genetic disease +GARD:0005900,GARD:0022524,GARD:0018686,GARD:0015089,Rare neurologic disease +GARD:0005900,GARD:0022531,GARD:0018686,GARD:0015089,Rare genetic disease +GARD:0005900,GARD:0022531,GARD:0002031,GARD:0015089,Rare genetic disease +GARD:0005900,GARD:0022536,GARD:0018686,GARD:0015089,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005900,GARD:0022515,GARD:0018686,GARD:0015089,Rare cardiac disease +GARD:0005907,GARD:0022535,GARD:0020706,GARD:0020709,Rare neoplastic disease +GARD:0005907,GARD:0022524,GARD:0020706,GARD:0020707,Rare neurologic disease +GARD:0005907,GARD:0022535,GARD:0020706,GARD:0020708,Rare neoplastic disease +GARD:0005907,GARD:0022535,GARD:0020706,GARD:0020707,Rare neoplastic disease +GARD:0005907,GARD:0022524,GARD:0020706,GARD:0020709,Rare neurologic disease +GARD:0005907,GARD:0022524,GARD:0020706,GARD:0020708,Rare neurologic disease +GARD:0005913,GARD:0022510,GARD:0019028,,Rare skin disease +GARD:0005913,GARD:0022513,GARD:0019501,,Rare developmental defect during embryogenesis +GARD:0005913,GARD:0022520,GARD:0019501,,Rare ophthalmic disorder +GARD:0005926,GARD:0022520,GARD:0019111,,Rare ophthalmic disorder +GARD:0005939,GARD:0022508,GARD:0018948,,Rare inborn errors of metabolism +GARD:0005939,GARD:0022531,GARD:0018948,,Rare genetic disease +GARD:0005940,GARD:0022531,GARD:0021924,,Rare genetic disease +GARD:0005940,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0005940,GARD:0022531,GARD:0020273,,Rare genetic disease +GARD:0005940,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0005940,GARD:0022527,GARD:0020462,,Rare circulatory system disease +GARD:0005940,GARD:0022513,GARD:0020462,,Rare developmental defect during embryogenesis +GARD:0005940,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0005950,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0005950,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005950,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005950,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005950,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0005950,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0005961,GARD:0022536,GARD:0022064,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005961,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0005962,GARD:0022513,GARD:0019867,,Rare developmental defect during embryogenesis +GARD:0005962,GARD:0022518,GARD:0019867,,Rare surgical thoracic disease +GARD:0005962,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0005966,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0005968,GARD:0022506,GARD:0019788,,Rare hepatic disease +GARD:0005968,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005969,GARD:0022536,GARD:0022292,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005969,GARD:0022525,GARD:0019982,,Rare systemic or rheumatologic disease +GARD:0005969,GARD:0022527,GARD:0019982,,Rare circulatory system disease +GARD:0005969,GARD:0022512,GARD:0022292,,Rare renal disease +GARD:0005972,GARD:0022510,GARD:0019028,,Rare skin disease +GARD:0005973,GARD:0022522,GARD:0021245,,Rare hematologic disease +GARD:0005973,GARD:0022535,GARD:0021147,,Rare neoplastic disease +GARD:0005973,GARD:0022536,GARD:0021245,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005973,GARD:0022535,GARD:0021245,,Rare neoplastic disease +GARD:0005974,GARD:0022524,GARD:0019387,,Rare neurologic disease +GARD:0005975,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0005978,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0005978,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0005978,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0005978,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0005978,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0005978,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0005979,GARD:0022531,GARD:0022531,GARD:0022195,Rare genetic disease +GARD:0005979,GARD:0022525,GARD:0018701,GARD:0022195,Rare systemic or rheumatologic disease +GARD:0005979,GARD:0022531,GARD:0022531,GARD:0022194,Rare genetic disease +GARD:0005979,GARD:0022525,GARD:0018701,GARD:0022194,Rare systemic or rheumatologic disease +GARD:0005979,GARD:0022530,GARD:0018701,GARD:0022194,Rare allergic disease +GARD:0005979,GARD:0022530,GARD:0018701,GARD:0022195,Rare allergic disease +GARD:0005980,GARD:0022525,GARD:0020255,GARD:0021070,Rare systemic or rheumatologic disease +GARD:0005980,GARD:0022525,GARD:0020255,GARD:0021071,Rare systemic or rheumatologic disease +GARD:0005980,GARD:0022527,GARD:0022014,GARD:0021071,Rare circulatory system disease +GARD:0005980,GARD:0022527,GARD:0022014,GARD:0021070,Rare circulatory system disease +GARD:0005984,GARD:0022524,GARD:0018890,GARD:0017437,Rare neurologic disease +GARD:0005984,GARD:0022524,GARD:0020552,GARD:0017438,Rare neurologic disease +GARD:0005984,GARD:0022531,GARD:0006895,GARD:0017437,Rare genetic disease +GARD:0005984,GARD:0022524,GARD:0020240,GARD:0017437,Rare neurologic disease +GARD:0005984,GARD:0022531,GARD:0018890,GARD:0017437,Rare genetic disease +GARD:0005984,GARD:0022508,GARD:0021304,GARD:0017437,Rare inborn errors of metabolism +GARD:0005984,GARD:0022508,GARD:0021304,GARD:0017438,Rare inborn errors of metabolism +GARD:0005984,GARD:0022531,GARD:0020552,GARD:0017437,Rare genetic disease +GARD:0005984,GARD:0022531,GARD:0020280,GARD:0017437,Rare genetic disease +GARD:0005984,GARD:0022524,GARD:0018890,GARD:0017438,Rare neurologic disease +GARD:0005984,GARD:0022531,GARD:0021304,GARD:0017438,Rare genetic disease +GARD:0005984,GARD:0022531,GARD:0006895,GARD:0017438,Rare genetic disease +GARD:0005984,GARD:0022531,GARD:0021304,GARD:0017437,Rare genetic disease +GARD:0005984,GARD:0022531,GARD:0020552,GARD:0017438,Rare genetic disease +GARD:0005984,GARD:0022524,GARD:0020552,GARD:0017437,Rare neurologic disease +GARD:0005984,GARD:0022531,GARD:0020280,GARD:0017438,Rare genetic disease +GARD:0005984,GARD:0022524,GARD:0020240,GARD:0017438,Rare neurologic disease +GARD:0005984,GARD:0022531,GARD:0018890,GARD:0017438,Rare genetic disease +GARD:0005984,GARD:0022524,GARD:0006895,GARD:0017438,Rare neurologic disease +GARD:0005984,GARD:0022524,GARD:0006895,GARD:0017437,Rare neurologic disease +GARD:0005993,GARD:0022531,GARD:0015012,,Rare genetic disease +GARD:0005993,GARD:0022513,GARD:0015012,,Rare developmental defect during embryogenesis +GARD:0005993,GARD:0022536,GARD:0015012,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0005993,GARD:0022520,GARD:0015012,,Rare ophthalmic disorder +GARD:0005993,GARD:0022511,GARD:0015012,,Rare bone disease +GARD:0005994,GARD:0022521,GARD:0009316,,Rare endocrine disease +GARD:0005994,GARD:0022535,GARD:0009316,,Rare neoplastic disease +GARD:0006001,GARD:0022531,GARD:0018963,,Rare genetic disease +GARD:0006001,GARD:0022508,GARD:0018963,,Rare inborn errors of metabolism +GARD:0006001,GARD:0022531,GARD:0021873,,Rare genetic disease +GARD:0006002,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006002,GARD:0022531,GARD:0020006,,Rare genetic disease +GARD:0006002,GARD:0022534,GARD:0019861,,Rare abdominal surgical disease +GARD:0006002,GARD:0022531,GARD:0019861,,Rare genetic disease +GARD:0006002,GARD:0022513,GARD:0019861,,Rare developmental defect during embryogenesis +GARD:0006002,GARD:0022536,GARD:0019861,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006002,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0006003,GARD:0022531,GARD:0021544,GARD:0015128,Rare genetic disease +GARD:0006003,GARD:0022531,GARD:0019911,GARD:0015889,Rare genetic disease +GARD:0006003,GARD:0022511,GARD:0019911,GARD:0015128,Rare bone disease +GARD:0006003,GARD:0022513,GARD:0020650,GARD:0015128,Rare developmental defect during embryogenesis +GARD:0006003,GARD:0022513,GARD:0019911,GARD:0015128,Rare developmental defect during embryogenesis +GARD:0006003,GARD:0022531,GARD:0022441,GARD:0015889,Rare genetic disease +GARD:0006003,GARD:0022513,GARD:0019832,GARD:0015889,Rare developmental defect during embryogenesis +GARD:0006003,GARD:0022531,GARD:0021544,GARD:0015889,Rare genetic disease +GARD:0006003,GARD:0022513,GARD:0019832,GARD:0015128,Rare developmental defect during embryogenesis +GARD:0006003,GARD:0022531,GARD:0019911,GARD:0015128,Rare genetic disease +GARD:0006003,GARD:0022531,GARD:0020650,GARD:0015889,Rare genetic disease +GARD:0006003,GARD:0022531,GARD:0020650,GARD:0015128,Rare genetic disease +GARD:0006003,GARD:0022524,GARD:0019832,GARD:0015889,Rare neurologic disease +GARD:0006003,GARD:0022521,GARD:0020650,GARD:0015889,Rare endocrine disease +GARD:0006003,GARD:0022513,GARD:0019911,GARD:0015889,Rare developmental defect during embryogenesis +GARD:0006003,GARD:0022531,GARD:0022441,GARD:0015128,Rare genetic disease +GARD:0006003,GARD:0022521,GARD:0020650,GARD:0015128,Rare endocrine disease +GARD:0006003,GARD:0022513,GARD:0020650,GARD:0015889,Rare developmental defect during embryogenesis +GARD:0006003,GARD:0022524,GARD:0019832,GARD:0015128,Rare neurologic disease +GARD:0006003,GARD:0022511,GARD:0019911,GARD:0015889,Rare bone disease +GARD:0006005,GARD:0022535,GARD:0012656,,Rare neoplastic disease +GARD:0006005,GARD:0022536,GARD:0012656,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006005,GARD:0022522,GARD:0012656,,Rare hematologic disease +GARD:0006007,GARD:0022534,GARD:0021862,,Rare abdominal surgical disease +GARD:0006007,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006007,GARD:0022513,GARD:0020974,,Rare developmental defect during embryogenesis +GARD:0006007,GARD:0022531,GARD:0021862,,Rare genetic disease +GARD:0006007,GARD:0022531,GARD:0020974,,Rare genetic disease +GARD:0006007,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0006007,GARD:0022513,GARD:0021862,,Rare developmental defect during embryogenesis +GARD:0006007,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0006007,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0006007,GARD:0022536,GARD:0021862,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006007,GARD:0022532,GARD:0021862,,Rare urogenital disease +GARD:0006007,GARD:0022524,GARD:0020974,,Rare neurologic disease +GARD:0006010,GARD:0022513,GARD:0021915,,Rare developmental defect during embryogenesis +GARD:0006010,GARD:0022527,GARD:0021915,,Rare circulatory system disease +GARD:0006011,GARD:0022531,GARD:0017269,GARD:0015256,Rare genetic disease +GARD:0006011,GARD:0022513,GARD:0017269,GARD:0016130,Rare developmental defect during embryogenesis +GARD:0006011,GARD:0022531,GARD:0017269,GARD:0016130,Rare genetic disease +GARD:0006011,GARD:0022531,GARD:0017269,GARD:0016009,Rare genetic disease +GARD:0006011,GARD:0022524,GARD:0017269,GARD:0016130,Rare neurologic disease +GARD:0006011,GARD:0022524,GARD:0017269,GARD:0016009,Rare neurologic disease +GARD:0006011,GARD:0022513,GARD:0017269,GARD:0016009,Rare developmental defect during embryogenesis +GARD:0006011,GARD:0022524,GARD:0017269,GARD:0015256,Rare neurologic disease +GARD:0006011,GARD:0022513,GARD:0017269,GARD:0015256,Rare developmental defect during embryogenesis +GARD:0006014,GARD:0022524,GARD:0019567,,Rare neurologic disease +GARD:0006014,GARD:0022531,GARD:0019567,,Rare genetic disease +GARD:0006014,GARD:0022531,GARD:0020134,,Rare genetic disease +GARD:0006014,GARD:0022524,GARD:0020134,,Rare neurologic disease +GARD:0006015,GARD:0022521,GARD:0019801,GARD:0019291,Rare endocrine disease +GARD:0006015,GARD:0022521,GARD:0019801,GARD:0016629,Rare endocrine disease +GARD:0006026,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0006026,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0006026,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0006026,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0006026,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0006026,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0006027,GARD:0022520,GARD:0019532,GARD:0016140,Rare ophthalmic disorder +GARD:0006027,GARD:0022513,GARD:0006122,GARD:0005629,Rare developmental defect during embryogenesis +GARD:0006027,GARD:0022520,GARD:0006122,GARD:0015498,Rare ophthalmic disorder +GARD:0006027,GARD:0022535,GARD:0006122,GARD:0005629,Rare neoplastic disease +GARD:0006027,GARD:0022531,GARD:0006122,GARD:0015497,Rare genetic disease +GARD:0006027,GARD:0022510,GARD:0006122,GARD:0005629,Rare skin disease +GARD:0006027,GARD:0022520,GARD:0019532,GARD:0005629,Rare ophthalmic disorder +GARD:0006027,GARD:0022513,GARD:0006122,GARD:0015497,Rare developmental defect during embryogenesis +GARD:0006027,GARD:0022531,GARD:0019532,GARD:0015150,Rare genetic disease +GARD:0006027,GARD:0022531,GARD:0019532,GARD:0016140,Rare genetic disease +GARD:0006027,GARD:0022513,GARD:0020342,GARD:0015498,Rare developmental defect during embryogenesis +GARD:0006027,GARD:0022513,GARD:0006122,GARD:0015498,Rare developmental defect during embryogenesis +GARD:0006027,GARD:0022528,GARD:0006122,GARD:0015498,Rare otorhinolaryngologic disease +GARD:0006027,GARD:0022510,GARD:0006122,GARD:0015497,Rare skin disease +GARD:0006027,GARD:0022531,GARD:0006122,GARD:0005629,Rare genetic disease +GARD:0006027,GARD:0022520,GARD:0006122,GARD:0015497,Rare ophthalmic disorder +GARD:0006027,GARD:0022524,GARD:0006122,GARD:0005629,Rare neurologic disease +GARD:0006027,GARD:0022535,GARD:0006122,GARD:0016140,Rare neoplastic disease +GARD:0006027,GARD:0022528,GARD:0006122,GARD:0005629,Rare otorhinolaryngologic disease +GARD:0006027,GARD:0022535,GARD:0006122,GARD:0015497,Rare neoplastic disease +GARD:0006027,GARD:0022510,GARD:0006122,GARD:0015498,Rare skin disease +GARD:0006027,GARD:0022531,GARD:0020342,GARD:0016140,Rare genetic disease +GARD:0006027,GARD:0022513,GARD:0006122,GARD:0015150,Rare developmental defect during embryogenesis +GARD:0006027,GARD:0022524,GARD:0006122,GARD:0015497,Rare neurologic disease +GARD:0006027,GARD:0022510,GARD:0006122,GARD:0016140,Rare skin disease +GARD:0006027,GARD:0022520,GARD:0020342,GARD:0015498,Rare ophthalmic disorder +GARD:0006027,GARD:0022520,GARD:0020342,GARD:0015150,Rare ophthalmic disorder +GARD:0006027,GARD:0022520,GARD:0020342,GARD:0005629,Rare ophthalmic disorder +GARD:0006027,GARD:0022513,GARD:0006122,GARD:0016140,Rare developmental defect during embryogenesis +GARD:0006027,GARD:0022520,GARD:0006122,GARD:0015150,Rare ophthalmic disorder +GARD:0006027,GARD:0022535,GARD:0006122,GARD:0015498,Rare neoplastic disease +GARD:0006027,GARD:0022531,GARD:0020342,GARD:0015498,Rare genetic disease +GARD:0006027,GARD:0022520,GARD:0020342,GARD:0015497,Rare ophthalmic disorder +GARD:0006027,GARD:0022531,GARD:0006122,GARD:0015498,Rare genetic disease +GARD:0006027,GARD:0022531,GARD:0019532,GARD:0015497,Rare genetic disease +GARD:0006027,GARD:0022520,GARD:0006122,GARD:0016140,Rare ophthalmic disorder +GARD:0006027,GARD:0022524,GARD:0006122,GARD:0015150,Rare neurologic disease +GARD:0006027,GARD:0022520,GARD:0019532,GARD:0015497,Rare ophthalmic disorder +GARD:0006027,GARD:0022528,GARD:0006122,GARD:0015497,Rare otorhinolaryngologic disease +GARD:0006027,GARD:0022520,GARD:0019532,GARD:0015498,Rare ophthalmic disorder +GARD:0006027,GARD:0022531,GARD:0019532,GARD:0005629,Rare genetic disease +GARD:0006027,GARD:0022513,GARD:0020342,GARD:0016140,Rare developmental defect during embryogenesis +GARD:0006027,GARD:0022510,GARD:0006122,GARD:0015150,Rare skin disease +GARD:0006027,GARD:0022524,GARD:0006122,GARD:0015498,Rare neurologic disease +GARD:0006027,GARD:0022531,GARD:0006122,GARD:0016140,Rare genetic disease +GARD:0006027,GARD:0022531,GARD:0020342,GARD:0005629,Rare genetic disease +GARD:0006027,GARD:0022531,GARD:0020342,GARD:0015150,Rare genetic disease +GARD:0006027,GARD:0022528,GARD:0006122,GARD:0016140,Rare otorhinolaryngologic disease +GARD:0006027,GARD:0022531,GARD:0020342,GARD:0015497,Rare genetic disease +GARD:0006027,GARD:0022535,GARD:0006122,GARD:0015150,Rare neoplastic disease +GARD:0006027,GARD:0022528,GARD:0006122,GARD:0015150,Rare otorhinolaryngologic disease +GARD:0006027,GARD:0022520,GARD:0020342,GARD:0016140,Rare ophthalmic disorder +GARD:0006027,GARD:0022531,GARD:0006122,GARD:0015150,Rare genetic disease +GARD:0006027,GARD:0022513,GARD:0020342,GARD:0015150,Rare developmental defect during embryogenesis +GARD:0006027,GARD:0022520,GARD:0006122,GARD:0005629,Rare ophthalmic disorder +GARD:0006027,GARD:0022513,GARD:0020342,GARD:0015497,Rare developmental defect during embryogenesis +GARD:0006027,GARD:0022513,GARD:0020342,GARD:0005629,Rare developmental defect during embryogenesis +GARD:0006027,GARD:0022520,GARD:0019532,GARD:0015150,Rare ophthalmic disorder +GARD:0006027,GARD:0022524,GARD:0006122,GARD:0016140,Rare neurologic disease +GARD:0006027,GARD:0022531,GARD:0019532,GARD:0015498,Rare genetic disease +GARD:0006033,GARD:0022520,GARD:0000060,,Rare ophthalmic disorder +GARD:0006033,GARD:0022531,GARD:0000060,,Rare genetic disease +GARD:0006033,GARD:0022513,GARD:0000060,,Rare developmental defect during embryogenesis +GARD:0006034,GARD:0022531,GARD:0010711,GARD:0021952,Rare genetic disease +GARD:0006034,GARD:0022531,GARD:0010711,GARD:0021954,Rare genetic disease +GARD:0006034,GARD:0022524,GARD:0010711,GARD:0021797,Rare neurologic disease +GARD:0006034,GARD:0022524,GARD:0010711,GARD:0002589,Rare neurologic disease +GARD:0006034,GARD:0022524,GARD:0010711,GARD:0012444,Rare neurologic disease +GARD:0006034,GARD:0022531,GARD:0010711,GARD:0002589,Rare genetic disease +GARD:0006034,GARD:0022524,GARD:0010711,GARD:0021954,Rare neurologic disease +GARD:0006034,GARD:0022531,GARD:0010711,GARD:0021951,Rare genetic disease +GARD:0006034,GARD:0022524,GARD:0010711,GARD:0021951,Rare neurologic disease +GARD:0006034,GARD:0022531,GARD:0010711,GARD:0012444,Rare genetic disease +GARD:0006034,GARD:0022531,GARD:0010711,GARD:0021797,Rare genetic disease +GARD:0006034,GARD:0022524,GARD:0010711,GARD:0021952,Rare neurologic disease +GARD:0006035,GARD:0022510,GARD:0021125,,Rare skin disease +GARD:0006035,GARD:0022523,GARD:0021515,,Rare immune disease +GARD:0006035,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0006035,GARD:0022531,GARD:0019470,,Rare genetic disease +GARD:0006035,GARD:0022531,GARD:0021334,,Rare genetic disease +GARD:0006035,GARD:0022531,GARD:0021515,,Rare genetic disease +GARD:0006035,GARD:0022531,GARD:0020278,,Rare genetic disease +GARD:0006035,GARD:0022524,GARD:0012733,,Rare neurologic disease +GARD:0006035,GARD:0022508,GARD:0021334,,Rare inborn errors of metabolism +GARD:0006035,GARD:0022523,GARD:0020321,,Rare immune disease +GARD:0006035,GARD:0022536,GARD:0021515,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006035,GARD:0022510,GARD:0019019,,Rare skin disease +GARD:0006035,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0006035,GARD:0022520,GARD:0021125,,Rare ophthalmic disorder +GARD:0006035,GARD:0022531,GARD:0021125,,Rare genetic disease +GARD:0006035,GARD:0022522,GARD:0019470,,Rare hematologic disease +GARD:0006035,GARD:0022531,GARD:0020321,,Rare genetic disease +GARD:0006035,GARD:0022531,GARD:0012733,,Rare genetic disease +GARD:0006036,GARD:0022523,GARD:0021161,,Rare immune disease +GARD:0006036,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0006036,GARD:0021079,GARD:0021461,,Rare systemic or rheumatological disease of childhood +GARD:0006036,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0006036,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0006036,GARD:0022525,GARD:0021457,,Rare systemic or rheumatologic disease +GARD:0006036,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0006036,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0006036,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0006036,GARD:0022531,GARD:0021161,,Rare genetic disease +GARD:0006038,GARD:0022509,GARD:0018690,,Rare infectious disease +GARD:0006039,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0006039,GARD:0022510,GARD:0021109,,Rare skin disease +GARD:0006039,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0006039,GARD:0022531,GARD:0008542,,Rare genetic disease +GARD:0006039,GARD:0022513,GARD:0018969,,Rare developmental defect during embryogenesis +GARD:0006039,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0006039,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0006039,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0006039,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0006039,GARD:0022513,GARD:0008542,,Rare developmental defect during embryogenesis +GARD:0006039,GARD:0022508,GARD:0018969,,Rare inborn errors of metabolism +GARD:0006039,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0006039,GARD:0022511,GARD:0008542,,Rare bone disease +GARD:0006039,GARD:0022531,GARD:0018969,,Rare genetic disease +GARD:0006039,GARD:0022531,GARD:0021109,,Rare genetic disease +GARD:0006040,GARD:0022524,GARD:0020099,,Rare neurologic disease +GARD:0006040,GARD:0022531,GARD:0020099,,Rare genetic disease +GARD:0006043,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0006048,GARD:0022531,GARD:0001292,,Rare genetic disease +GARD:0006048,GARD:0022511,GARD:0001292,,Rare bone disease +GARD:0006048,GARD:0022513,GARD:0001292,,Rare developmental defect during embryogenesis +GARD:0006048,GARD:0022525,GARD:0001292,,Rare systemic or rheumatologic disease +GARD:0006049,GARD:0022508,GARD:0013160,,Rare inborn errors of metabolism +GARD:0006049,GARD:0022531,GARD:0013160,,Rare genetic disease +GARD:0006049,GARD:0022511,GARD:0013160,,Rare bone disease +GARD:0006049,GARD:0022520,GARD:0013160,,Rare ophthalmic disorder +GARD:0006049,GARD:0022513,GARD:0013160,,Rare developmental defect during embryogenesis +GARD:0006049,GARD:0022524,GARD:0013160,,Rare neurologic disease +GARD:0006055,GARD:0022511,GARD:0020547,,Rare bone disease +GARD:0006055,GARD:0022535,GARD:0020547,,Rare neoplastic disease +GARD:0006061,GARD:0022520,GARD:0022096,,Rare ophthalmic disorder +GARD:0006061,GARD:0022531,GARD:0022096,,Rare genetic disease +GARD:0006064,GARD:0022512,GARD:0013215,,Rare renal disease +GARD:0006064,GARD:0022536,GARD:0013215,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006064,GARD:0022535,GARD:0013215,,Rare neoplastic disease +GARD:0006069,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006069,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0006069,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0006069,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0006069,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0006069,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0006072,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0006072,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0006072,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0006072,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0006077,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0006077,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0006082,GARD:0022531,GARD:0020529,,Rare genetic disease +GARD:0006082,GARD:0022531,GARD:0020806,,Rare genetic disease +GARD:0006082,GARD:0022536,GARD:0020529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006082,GARD:0022515,GARD:0020529,,Rare cardiac disease +GARD:0006082,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0006082,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0006082,GARD:0022513,GARD:0020806,,Rare developmental defect during embryogenesis +GARD:0006083,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0006083,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0006085,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0006085,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0006091,GARD:0022531,GARD:0020861,,Rare genetic disease +GARD:0006091,GARD:0022513,GARD:0020861,,Rare developmental defect during embryogenesis +GARD:0006093,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0006093,GARD:0022513,GARD:0019214,,Rare developmental defect during embryogenesis +GARD:0006093,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0006093,GARD:0022531,GARD:0020862,,Rare genetic disease +GARD:0006093,GARD:0022531,GARD:0019214,,Rare genetic disease +GARD:0006093,GARD:0022513,GARD:0020862,,Rare developmental defect during embryogenesis +GARD:0006095,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0006095,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0006100,GARD:0022531,GARD:0020321,GARD:0015176,Rare genetic disease +GARD:0006100,GARD:0022520,GARD:0021102,GARD:0015177,Rare ophthalmic disorder +GARD:0006100,GARD:0022536,GARD:0019849,GARD:0015294,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006100,GARD:0022520,GARD:0021103,GARD:0015736,Rare ophthalmic disorder +GARD:0006100,GARD:0022510,GARD:0019019,GARD:0015294,Rare skin disease +GARD:0006100,GARD:0022531,GARD:0022149,GARD:0016395,Rare genetic disease +GARD:0006100,GARD:0022510,GARD:0019019,GARD:0015175,Rare skin disease +GARD:0006100,GARD:0022531,GARD:0022149,GARD:0015175,Rare genetic disease +GARD:0006100,GARD:0022531,GARD:0020278,GARD:0015736,Rare genetic disease +GARD:0006100,GARD:0022536,GARD:0020929,GARD:0015177,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006100,GARD:0022510,GARD:0019019,GARD:0015177,Rare skin disease +GARD:0006100,GARD:0022517,GARD:0020929,GARD:0015177,Rare respiratory disease +GARD:0006100,GARD:0022531,GARD:0020321,GARD:0015177,Rare genetic disease +GARD:0006100,GARD:0022520,GARD:0021103,GARD:0015294,Rare ophthalmic disorder +GARD:0006100,GARD:0022531,GARD:0022149,GARD:0015294,Rare genetic disease +GARD:0006100,GARD:0022520,GARD:0021103,GARD:0015177,Rare ophthalmic disorder +GARD:0006100,GARD:0022516,GARD:0019849,GARD:0015175,Rare gastroenterologic disease +GARD:0006100,GARD:0022520,GARD:0021103,GARD:0015175,Rare ophthalmic disorder +GARD:0006100,GARD:0022536,GARD:0019849,GARD:0015176,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006100,GARD:0022516,GARD:0019849,GARD:0015736,Rare gastroenterologic disease +GARD:0006100,GARD:0022516,GARD:0019849,GARD:0016395,Rare gastroenterologic disease +GARD:0006100,GARD:0022517,GARD:0020929,GARD:0015176,Rare respiratory disease +GARD:0006100,GARD:0022523,GARD:0020321,GARD:0015175,Rare immune disease +GARD:0006100,GARD:0022517,GARD:0020929,GARD:0015175,Rare respiratory disease +GARD:0006100,GARD:0022536,GARD:0020929,GARD:0015175,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006100,GARD:0022520,GARD:0021101,GARD:0015176,Rare ophthalmic disorder +GARD:0006100,GARD:0022523,GARD:0020321,GARD:0015294,Rare immune disease +GARD:0006100,GARD:0022520,GARD:0021103,GARD:0016395,Rare ophthalmic disorder +GARD:0006100,GARD:0022536,GARD:0019849,GARD:0015736,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006100,GARD:0022516,GARD:0019849,GARD:0015177,Rare gastroenterologic disease +GARD:0006100,GARD:0022517,GARD:0020929,GARD:0015294,Rare respiratory disease +GARD:0006100,GARD:0022536,GARD:0019849,GARD:0015175,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006100,GARD:0022531,GARD:0020321,GARD:0015294,Rare genetic disease +GARD:0006100,GARD:0022531,GARD:0020321,GARD:0016395,Rare genetic disease +GARD:0006100,GARD:0022520,GARD:0021102,GARD:0015175,Rare ophthalmic disorder +GARD:0006100,GARD:0022531,GARD:0020321,GARD:0015736,Rare genetic disease +GARD:0006100,GARD:0022523,GARD:0020321,GARD:0015736,Rare immune disease +GARD:0006100,GARD:0022510,GARD:0019019,GARD:0015176,Rare skin disease +GARD:0006100,GARD:0022531,GARD:0020278,GARD:0015176,Rare genetic disease +GARD:0006100,GARD:0022531,GARD:0020278,GARD:0016395,Rare genetic disease +GARD:0006100,GARD:0022531,GARD:0020278,GARD:0015177,Rare genetic disease +GARD:0006100,GARD:0022520,GARD:0021101,GARD:0015736,Rare ophthalmic disorder +GARD:0006100,GARD:0022531,GARD:0020278,GARD:0015175,Rare genetic disease +GARD:0006100,GARD:0022517,GARD:0020929,GARD:0016395,Rare respiratory disease +GARD:0006100,GARD:0022536,GARD:0020929,GARD:0016395,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006100,GARD:0022523,GARD:0020321,GARD:0015176,Rare immune disease +GARD:0006100,GARD:0022517,GARD:0020929,GARD:0015736,Rare respiratory disease +GARD:0006100,GARD:0022520,GARD:0021102,GARD:0015736,Rare ophthalmic disorder +GARD:0006100,GARD:0022531,GARD:0020278,GARD:0015294,Rare genetic disease +GARD:0006100,GARD:0022520,GARD:0021102,GARD:0015294,Rare ophthalmic disorder +GARD:0006100,GARD:0022531,GARD:0022149,GARD:0015177,Rare genetic disease +GARD:0006100,GARD:0022536,GARD:0020929,GARD:0015176,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006100,GARD:0022516,GARD:0019849,GARD:0015294,Rare gastroenterologic disease +GARD:0006100,GARD:0022520,GARD:0021101,GARD:0016395,Rare ophthalmic disorder +GARD:0006100,GARD:0022523,GARD:0020321,GARD:0016395,Rare immune disease +GARD:0006100,GARD:0022531,GARD:0020321,GARD:0015175,Rare genetic disease +GARD:0006100,GARD:0022531,GARD:0022149,GARD:0015736,Rare genetic disease +GARD:0006100,GARD:0022520,GARD:0021101,GARD:0015175,Rare ophthalmic disorder +GARD:0006100,GARD:0022520,GARD:0021102,GARD:0016395,Rare ophthalmic disorder +GARD:0006100,GARD:0022536,GARD:0019849,GARD:0016395,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006100,GARD:0022516,GARD:0019849,GARD:0015176,Rare gastroenterologic disease +GARD:0006100,GARD:0022523,GARD:0020321,GARD:0015177,Rare immune disease +GARD:0006100,GARD:0022536,GARD:0020929,GARD:0015294,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006100,GARD:0022520,GARD:0021103,GARD:0015176,Rare ophthalmic disorder +GARD:0006100,GARD:0022536,GARD:0019849,GARD:0015177,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006100,GARD:0022531,GARD:0022149,GARD:0015176,Rare genetic disease +GARD:0006100,GARD:0022510,GARD:0019019,GARD:0015736,Rare skin disease +GARD:0006100,GARD:0022520,GARD:0021102,GARD:0015176,Rare ophthalmic disorder +GARD:0006100,GARD:0022536,GARD:0020929,GARD:0015736,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006100,GARD:0022520,GARD:0021101,GARD:0015294,Rare ophthalmic disorder +GARD:0006100,GARD:0022520,GARD:0021101,GARD:0015177,Rare ophthalmic disorder +GARD:0006100,GARD:0022510,GARD:0019019,GARD:0016395,Rare skin disease +GARD:0006102,GARD:0022524,GARD:0020410,GARD:0013070,Rare neurologic disease +GARD:0006102,GARD:0022524,GARD:0020239,GARD:0013070,Rare neurologic disease +GARD:0006104,GARD:0022535,GARD:0021244,GARD:0015567,Rare neoplastic disease +GARD:0006104,GARD:0022536,GARD:0021244,GARD:0015566,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006104,GARD:0022522,GARD:0021244,GARD:0015042,Rare hematologic disease +GARD:0006104,GARD:0022536,GARD:0021244,GARD:0015467,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006104,GARD:0022535,GARD:0021244,GARD:0015566,Rare neoplastic disease +GARD:0006104,GARD:0022536,GARD:0021244,GARD:0015567,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006104,GARD:0022522,GARD:0021244,GARD:0015467,Rare hematologic disease +GARD:0006104,GARD:0022522,GARD:0021244,GARD:0015566,Rare hematologic disease +GARD:0006104,GARD:0022522,GARD:0021244,GARD:0015565,Rare hematologic disease +GARD:0006104,GARD:0022535,GARD:0021244,GARD:0015565,Rare neoplastic disease +GARD:0006104,GARD:0022522,GARD:0021244,GARD:0015567,Rare hematologic disease +GARD:0006104,GARD:0022535,GARD:0021244,GARD:0015467,Rare neoplastic disease +GARD:0006104,GARD:0022536,GARD:0021244,GARD:0015042,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006104,GARD:0022536,GARD:0021244,GARD:0015565,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006104,GARD:0022535,GARD:0021244,GARD:0015042,Rare neoplastic disease +GARD:0006105,GARD:0022535,GARD:0009319,,Rare neoplastic disease +GARD:0006105,GARD:0022536,GARD:0009319,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006105,GARD:0022522,GARD:0009319,,Rare hematologic disease +GARD:0006107,GARD:0022531,GARD:0009558,,Rare genetic disease +GARD:0006107,GARD:0022536,GARD:0009558,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006107,GARD:0022523,GARD:0009558,,Rare immune disease +GARD:0006108,GARD:0021079,GARD:0021459,,Rare systemic or rheumatological disease of childhood +GARD:0006108,GARD:0022525,GARD:0021454,,Rare systemic or rheumatologic disease +GARD:0006108,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0006111,GARD:0022524,GARD:0020416,,Rare neurologic disease +GARD:0006111,GARD:0022515,GARD:0021452,,Rare cardiac disease +GARD:0006111,GARD:0021079,GARD:0013011,,Rare systemic or rheumatological disease of childhood +GARD:0006111,GARD:0022512,GARD:0022292,,Rare renal disease +GARD:0006111,GARD:0022527,GARD:0013011,,Rare circulatory system disease +GARD:0006111,GARD:0022536,GARD:0013011,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006111,GARD:0022536,GARD:0022292,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006111,GARD:0022536,GARD:0021452,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006111,GARD:0022517,GARD:0013011,,Rare respiratory disease +GARD:0006111,GARD:0022525,GARD:0013011,,Rare systemic or rheumatologic disease +GARD:0006114,GARD:0022508,GARD:0016522,GARD:0020659,Rare inborn errors of metabolism +GARD:0006114,GARD:0022531,GARD:0016522,GARD:0020659,Rare genetic disease +GARD:0006114,GARD:0022531,GARD:0016522,GARD:0020660,Rare genetic disease +GARD:0006114,GARD:0022508,GARD:0016522,GARD:0020660,Rare inborn errors of metabolism +GARD:0006118,GARD:0022513,GARD:0019206,GARD:0010623,Rare developmental defect during embryogenesis +GARD:0006118,GARD:0022511,GARD:0019206,GARD:0010623,Rare bone disease +GARD:0006118,GARD:0022531,GARD:0019206,GARD:0010623,Rare genetic disease +GARD:0006118,GARD:0022513,GARD:0019909,GARD:0010623,Rare developmental defect during embryogenesis +GARD:0006118,GARD:0022526,GARD:0019909,GARD:0010623,Rare odontologic disease +GARD:0006118,GARD:0022531,GARD:0020294,GARD:0010623,Rare genetic disease +GARD:0006118,GARD:0022513,GARD:0019390,GARD:0010623,Rare developmental defect during embryogenesis +GARD:0006121,GARD:0022531,GARD:0022189,,Rare genetic disease +GARD:0006121,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0006121,GARD:0022520,GARD:0019522,,Rare ophthalmic disorder +GARD:0006121,GARD:0022513,GARD:0019522,,Rare developmental defect during embryogenesis +GARD:0006121,GARD:0022520,GARD:0022104,,Rare ophthalmic disorder +GARD:0006121,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0006121,GARD:0022531,GARD:0022098,,Rare genetic disease +GARD:0006121,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0006121,GARD:0022531,GARD:0022184,,Rare genetic disease +GARD:0006121,GARD:0022520,GARD:0022098,,Rare ophthalmic disorder +GARD:0006121,GARD:0022531,GARD:0020281,,Rare genetic disease +GARD:0006122,GARD:0022528,GARD:0019145,GARD:0006027,Rare otorhinolaryngologic disease +GARD:0006122,GARD:0022531,GARD:0019017,GARD:0006027,Rare genetic disease +GARD:0006122,GARD:0022531,GARD:0019904,GARD:0001415,Rare genetic disease +GARD:0006122,GARD:0022535,GARD:0020259,GARD:0006027,Rare neoplastic disease +GARD:0006122,GARD:0022531,GARD:0019017,GARD:0001420,Rare genetic disease +GARD:0006122,GARD:0022513,GARD:0019906,GARD:0001417,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022531,GARD:0020259,GARD:0006027,Rare genetic disease +GARD:0006122,GARD:0022513,GARD:0019832,GARD:0001417,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022524,GARD:0020240,GARD:0001415,Rare neurologic disease +GARD:0006122,GARD:0022513,GARD:0019906,GARD:0006027,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022513,GARD:0019906,GARD:0001415,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022531,GARD:0021543,GARD:0006027,Rare genetic disease +GARD:0006122,GARD:0022513,GARD:0019904,GARD:0001417,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022528,GARD:0019145,GARD:0001420,Rare otorhinolaryngologic disease +GARD:0006122,GARD:0022531,GARD:0021543,GARD:0001417,Rare genetic disease +GARD:0006122,GARD:0022528,GARD:0019145,GARD:0001415,Rare otorhinolaryngologic disease +GARD:0006122,GARD:0022531,GARD:0019145,GARD:0006027,Rare genetic disease +GARD:0006122,GARD:0022531,GARD:0019904,GARD:0001420,Rare genetic disease +GARD:0006122,GARD:0022531,GARD:0020280,GARD:0001417,Rare genetic disease +GARD:0006122,GARD:0022535,GARD:0020259,GARD:0001417,Rare neoplastic disease +GARD:0006122,GARD:0022531,GARD:0019538,GARD:0001415,Rare genetic disease +GARD:0006122,GARD:0022513,GARD:0019832,GARD:0001420,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022531,GARD:0022441,GARD:0001420,Rare genetic disease +GARD:0006122,GARD:0022524,GARD:0020240,GARD:0006027,Rare neurologic disease +GARD:0006122,GARD:0022513,GARD:0019145,GARD:0001420,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022520,GARD:0019538,GARD:0001415,Rare ophthalmic disorder +GARD:0006122,GARD:0022531,GARD:0019145,GARD:0001417,Rare genetic disease +GARD:0006122,GARD:0022524,GARD:0019832,GARD:0006027,Rare neurologic disease +GARD:0006122,GARD:0022531,GARD:0020259,GARD:0001415,Rare genetic disease +GARD:0006122,GARD:0022510,GARD:0019017,GARD:0001420,Rare skin disease +GARD:0006122,GARD:0022531,GARD:0019145,GARD:0001420,Rare genetic disease +GARD:0006122,GARD:0022528,GARD:0019145,GARD:0001417,Rare otorhinolaryngologic disease +GARD:0006122,GARD:0022513,GARD:0019904,GARD:0006027,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022513,GARD:0019904,GARD:0001420,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022531,GARD:0019904,GARD:0001417,Rare genetic disease +GARD:0006122,GARD:0022520,GARD:0019538,GARD:0001420,Rare ophthalmic disorder +GARD:0006122,GARD:0022513,GARD:0019145,GARD:0001417,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022531,GARD:0019538,GARD:0001417,Rare genetic disease +GARD:0006122,GARD:0022520,GARD:0019538,GARD:0001417,Rare ophthalmic disorder +GARD:0006122,GARD:0022513,GARD:0019145,GARD:0006027,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022531,GARD:0019538,GARD:0001420,Rare genetic disease +GARD:0006122,GARD:0022531,GARD:0021543,GARD:0001415,Rare genetic disease +GARD:0006122,GARD:0022531,GARD:0020280,GARD:0001420,Rare genetic disease +GARD:0006122,GARD:0022535,GARD:0020259,GARD:0001420,Rare neoplastic disease +GARD:0006122,GARD:0022531,GARD:0020280,GARD:0006027,Rare genetic disease +GARD:0006122,GARD:0022513,GARD:0019832,GARD:0001415,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022531,GARD:0020280,GARD:0001415,Rare genetic disease +GARD:0006122,GARD:0022531,GARD:0022441,GARD:0006027,Rare genetic disease +GARD:0006122,GARD:0022535,GARD:0020259,GARD:0001415,Rare neoplastic disease +GARD:0006122,GARD:0022531,GARD:0020259,GARD:0001417,Rare genetic disease +GARD:0006122,GARD:0022510,GARD:0019017,GARD:0001415,Rare skin disease +GARD:0006122,GARD:0022513,GARD:0019832,GARD:0006027,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022531,GARD:0019145,GARD:0001415,Rare genetic disease +GARD:0006122,GARD:0022524,GARD:0019832,GARD:0001417,Rare neurologic disease +GARD:0006122,GARD:0022513,GARD:0019145,GARD:0001415,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022524,GARD:0019832,GARD:0001415,Rare neurologic disease +GARD:0006122,GARD:0022524,GARD:0019832,GARD:0001420,Rare neurologic disease +GARD:0006122,GARD:0022531,GARD:0019538,GARD:0006027,Rare genetic disease +GARD:0006122,GARD:0022510,GARD:0019017,GARD:0001417,Rare skin disease +GARD:0006122,GARD:0022524,GARD:0020240,GARD:0001417,Rare neurologic disease +GARD:0006122,GARD:0022531,GARD:0022441,GARD:0001417,Rare genetic disease +GARD:0006122,GARD:0022520,GARD:0019538,GARD:0006027,Rare ophthalmic disorder +GARD:0006122,GARD:0022531,GARD:0019904,GARD:0006027,Rare genetic disease +GARD:0006122,GARD:0022510,GARD:0019017,GARD:0006027,Rare skin disease +GARD:0006122,GARD:0022531,GARD:0019017,GARD:0001417,Rare genetic disease +GARD:0006122,GARD:0022531,GARD:0019017,GARD:0001415,Rare genetic disease +GARD:0006122,GARD:0022513,GARD:0019906,GARD:0001420,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022513,GARD:0019904,GARD:0001415,Rare developmental defect during embryogenesis +GARD:0006122,GARD:0022524,GARD:0020240,GARD:0001420,Rare neurologic disease +GARD:0006122,GARD:0022531,GARD:0020259,GARD:0001420,Rare genetic disease +GARD:0006122,GARD:0022531,GARD:0021543,GARD:0001420,Rare genetic disease +GARD:0006122,GARD:0022531,GARD:0022441,GARD:0001415,Rare genetic disease +GARD:0006123,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0006123,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0006123,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0006123,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0006123,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0006123,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0006124,GARD:0022511,GARD:0022023,GARD:0016254,Rare bone disease +GARD:0006124,GARD:0022511,GARD:0022023,GARD:0016379,Rare bone disease +GARD:0006124,GARD:0022531,GARD:0022023,GARD:0015822,Rare genetic disease +GARD:0006124,GARD:0022511,GARD:0019911,GARD:0016170,Rare bone disease +GARD:0006124,GARD:0022513,GARD:0022023,GARD:0016379,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022531,GARD:0022023,GARD:0016347,Rare genetic disease +GARD:0006124,GARD:0022524,GARD:0019832,GARD:0016254,Rare neurologic disease +GARD:0006124,GARD:0022531,GARD:0022441,GARD:0016379,Rare genetic disease +GARD:0006124,GARD:0022531,GARD:0019911,GARD:0016358,Rare genetic disease +GARD:0006124,GARD:0022531,GARD:0022023,GARD:0015072,Rare genetic disease +GARD:0006124,GARD:0022513,GARD:0019832,GARD:0016023,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022524,GARD:0019832,GARD:0015822,Rare neurologic disease +GARD:0006124,GARD:0022513,GARD:0019832,GARD:0016379,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022513,GARD:0019911,GARD:0016379,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022524,GARD:0019832,GARD:0015072,Rare neurologic disease +GARD:0006124,GARD:0022513,GARD:0019832,GARD:0016347,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022524,GARD:0019832,GARD:0016347,Rare neurologic disease +GARD:0006124,GARD:0022531,GARD:0022023,GARD:0015820,Rare genetic disease +GARD:0006124,GARD:0022511,GARD:0019911,GARD:0016379,Rare bone disease +GARD:0006124,GARD:0022511,GARD:0022023,GARD:0016358,Rare bone disease +GARD:0006124,GARD:0022531,GARD:0019911,GARD:0015822,Rare genetic disease +GARD:0006124,GARD:0022531,GARD:0019911,GARD:0015821,Rare genetic disease +GARD:0006124,GARD:0022513,GARD:0019911,GARD:0016254,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022531,GARD:0022441,GARD:0016254,Rare genetic disease +GARD:0006124,GARD:0022513,GARD:0022023,GARD:0016347,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022531,GARD:0022023,GARD:0016023,Rare genetic disease +GARD:0006124,GARD:0022513,GARD:0019911,GARD:0016347,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022511,GARD:0019911,GARD:0016347,Rare bone disease +GARD:0006124,GARD:0022513,GARD:0022023,GARD:0016443,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022513,GARD:0022023,GARD:0015072,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022513,GARD:0019911,GARD:0015822,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022531,GARD:0022023,GARD:0016358,Rare genetic disease +GARD:0006124,GARD:0022511,GARD:0019911,GARD:0015820,Rare bone disease +GARD:0006124,GARD:0022531,GARD:0022441,GARD:0016170,Rare genetic disease +GARD:0006124,GARD:0022511,GARD:0019911,GARD:0016254,Rare bone disease +GARD:0006124,GARD:0022513,GARD:0022023,GARD:0015820,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022531,GARD:0019911,GARD:0015820,Rare genetic disease +GARD:0006124,GARD:0022513,GARD:0022023,GARD:0016358,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022531,GARD:0022441,GARD:0015821,Rare genetic disease +GARD:0006124,GARD:0022511,GARD:0022023,GARD:0015822,Rare bone disease +GARD:0006124,GARD:0022513,GARD:0022023,GARD:0015821,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022511,GARD:0019911,GARD:0016443,Rare bone disease +GARD:0006124,GARD:0022511,GARD:0022023,GARD:0016347,Rare bone disease +GARD:0006124,GARD:0022531,GARD:0019911,GARD:0015072,Rare genetic disease +GARD:0006124,GARD:0022511,GARD:0022023,GARD:0015072,Rare bone disease +GARD:0006124,GARD:0022511,GARD:0019911,GARD:0015822,Rare bone disease +GARD:0006124,GARD:0022531,GARD:0022441,GARD:0016287,Rare genetic disease +GARD:0006124,GARD:0022513,GARD:0022023,GARD:0016170,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022513,GARD:0022023,GARD:0015822,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022531,GARD:0022023,GARD:0016287,Rare genetic disease +GARD:0006124,GARD:0022524,GARD:0019832,GARD:0016358,Rare neurologic disease +GARD:0006124,GARD:0022511,GARD:0019911,GARD:0015072,Rare bone disease +GARD:0006124,GARD:0022524,GARD:0019832,GARD:0015821,Rare neurologic disease +GARD:0006124,GARD:0022513,GARD:0022023,GARD:0016287,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022531,GARD:0019911,GARD:0016023,Rare genetic disease +GARD:0006124,GARD:0022513,GARD:0019832,GARD:0015821,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022513,GARD:0019911,GARD:0016443,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022513,GARD:0019911,GARD:0016170,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022511,GARD:0022023,GARD:0015821,Rare bone disease +GARD:0006124,GARD:0022511,GARD:0019911,GARD:0016287,Rare bone disease +GARD:0006124,GARD:0022531,GARD:0019911,GARD:0016443,Rare genetic disease +GARD:0006124,GARD:0022511,GARD:0022023,GARD:0016443,Rare bone disease +GARD:0006124,GARD:0022511,GARD:0022023,GARD:0015820,Rare bone disease +GARD:0006124,GARD:0022513,GARD:0019911,GARD:0015820,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022511,GARD:0022023,GARD:0016287,Rare bone disease +GARD:0006124,GARD:0022531,GARD:0019911,GARD:0016379,Rare genetic disease +GARD:0006124,GARD:0022511,GARD:0019911,GARD:0016023,Rare bone disease +GARD:0006124,GARD:0022513,GARD:0019832,GARD:0015822,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022513,GARD:0019911,GARD:0015821,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022513,GARD:0019911,GARD:0015072,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022531,GARD:0022023,GARD:0015821,Rare genetic disease +GARD:0006124,GARD:0022531,GARD:0022023,GARD:0016170,Rare genetic disease +GARD:0006124,GARD:0022511,GARD:0019911,GARD:0015821,Rare bone disease +GARD:0006124,GARD:0022531,GARD:0022023,GARD:0016443,Rare genetic disease +GARD:0006124,GARD:0022531,GARD:0019911,GARD:0016170,Rare genetic disease +GARD:0006124,GARD:0022513,GARD:0019832,GARD:0016287,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022513,GARD:0019832,GARD:0016443,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022524,GARD:0019832,GARD:0016287,Rare neurologic disease +GARD:0006124,GARD:0022531,GARD:0022023,GARD:0016379,Rare genetic disease +GARD:0006124,GARD:0022531,GARD:0022441,GARD:0016347,Rare genetic disease +GARD:0006124,GARD:0022524,GARD:0019832,GARD:0015820,Rare neurologic disease +GARD:0006124,GARD:0022511,GARD:0022023,GARD:0016170,Rare bone disease +GARD:0006124,GARD:0022511,GARD:0019911,GARD:0016358,Rare bone disease +GARD:0006124,GARD:0022513,GARD:0019832,GARD:0015820,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022531,GARD:0019911,GARD:0016347,Rare genetic disease +GARD:0006124,GARD:0022531,GARD:0022441,GARD:0015072,Rare genetic disease +GARD:0006124,GARD:0022531,GARD:0022441,GARD:0016358,Rare genetic disease +GARD:0006124,GARD:0022531,GARD:0022441,GARD:0015822,Rare genetic disease +GARD:0006124,GARD:0022513,GARD:0019832,GARD:0016254,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022531,GARD:0022023,GARD:0016254,Rare genetic disease +GARD:0006124,GARD:0022531,GARD:0022441,GARD:0016023,Rare genetic disease +GARD:0006124,GARD:0022513,GARD:0019911,GARD:0016023,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022524,GARD:0019832,GARD:0016443,Rare neurologic disease +GARD:0006124,GARD:0022531,GARD:0022441,GARD:0015820,Rare genetic disease +GARD:0006124,GARD:0022513,GARD:0019832,GARD:0015072,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022531,GARD:0019911,GARD:0016254,Rare genetic disease +GARD:0006124,GARD:0022531,GARD:0022441,GARD:0016443,Rare genetic disease +GARD:0006124,GARD:0022524,GARD:0019832,GARD:0016170,Rare neurologic disease +GARD:0006124,GARD:0022513,GARD:0019832,GARD:0016170,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022513,GARD:0022023,GARD:0016254,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022511,GARD:0022023,GARD:0016023,Rare bone disease +GARD:0006124,GARD:0022513,GARD:0019832,GARD:0016358,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022531,GARD:0019911,GARD:0016287,Rare genetic disease +GARD:0006124,GARD:0022524,GARD:0019832,GARD:0016379,Rare neurologic disease +GARD:0006124,GARD:0022524,GARD:0019832,GARD:0016023,Rare neurologic disease +GARD:0006124,GARD:0022513,GARD:0022023,GARD:0016023,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022513,GARD:0019911,GARD:0016358,Rare developmental defect during embryogenesis +GARD:0006124,GARD:0022513,GARD:0019911,GARD:0016287,Rare developmental defect during embryogenesis +GARD:0006125,GARD:0022531,GARD:0000060,,Rare genetic disease +GARD:0006125,GARD:0022520,GARD:0000060,,Rare ophthalmic disorder +GARD:0006125,GARD:0022513,GARD:0000060,,Rare developmental defect during embryogenesis +GARD:0006126,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0006126,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0006126,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0006126,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0006126,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0006126,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0006126,GARD:0022536,GARD:0021508,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006126,GARD:0022531,GARD:0021508,,Rare genetic disease +GARD:0006126,GARD:0022523,GARD:0021508,,Rare immune disease +GARD:0006126,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0006126,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0006130,GARD:0022522,GARD:0020590,,Rare hematologic disease +GARD:0006140,GARD:0022531,GARD:0019921,GARD:0015671,Rare genetic disease +GARD:0006140,GARD:0022523,GARD:0019807,GARD:0015670,Rare immune disease +GARD:0006140,GARD:0022523,GARD:0019807,GARD:0015836,Rare immune disease +GARD:0006140,GARD:0022531,GARD:0019807,GARD:0015184,Rare genetic disease +GARD:0006140,GARD:0022535,GARD:0019921,GARD:0015669,Rare neoplastic disease +GARD:0006140,GARD:0022535,GARD:0019921,GARD:0015668,Rare neoplastic disease +GARD:0006140,GARD:0022535,GARD:0019921,GARD:0015836,Rare neoplastic disease +GARD:0006140,GARD:0022535,GARD:0019921,GARD:0015184,Rare neoplastic disease +GARD:0006140,GARD:0022523,GARD:0019807,GARD:0015184,Rare immune disease +GARD:0006140,GARD:0022531,GARD:0019807,GARD:0016141,Rare genetic disease +GARD:0006140,GARD:0022523,GARD:0019807,GARD:0015669,Rare immune disease +GARD:0006140,GARD:0022531,GARD:0019921,GARD:0002984,Rare genetic disease +GARD:0006140,GARD:0022531,GARD:0019807,GARD:0015990,Rare genetic disease +GARD:0006140,GARD:0022523,GARD:0019807,GARD:0015990,Rare immune disease +GARD:0006140,GARD:0022535,GARD:0019921,GARD:0002984,Rare neoplastic disease +GARD:0006140,GARD:0022523,GARD:0019807,GARD:0015671,Rare immune disease +GARD:0006140,GARD:0022531,GARD:0019921,GARD:0016141,Rare genetic disease +GARD:0006140,GARD:0022531,GARD:0019807,GARD:0015668,Rare genetic disease +GARD:0006140,GARD:0022531,GARD:0019807,GARD:0015670,Rare genetic disease +GARD:0006140,GARD:0022531,GARD:0019921,GARD:0015670,Rare genetic disease +GARD:0006140,GARD:0022531,GARD:0019807,GARD:0002984,Rare genetic disease +GARD:0006140,GARD:0022535,GARD:0019921,GARD:0015670,Rare neoplastic disease +GARD:0006140,GARD:0022535,GARD:0019921,GARD:0015990,Rare neoplastic disease +GARD:0006140,GARD:0022535,GARD:0019921,GARD:0016141,Rare neoplastic disease +GARD:0006140,GARD:0022531,GARD:0019921,GARD:0015836,Rare genetic disease +GARD:0006140,GARD:0022531,GARD:0019921,GARD:0015669,Rare genetic disease +GARD:0006140,GARD:0022531,GARD:0019921,GARD:0015990,Rare genetic disease +GARD:0006140,GARD:0022523,GARD:0019807,GARD:0015668,Rare immune disease +GARD:0006140,GARD:0022523,GARD:0019807,GARD:0016141,Rare immune disease +GARD:0006140,GARD:0022523,GARD:0019807,GARD:0002984,Rare immune disease +GARD:0006140,GARD:0022535,GARD:0019921,GARD:0015671,Rare neoplastic disease +GARD:0006140,GARD:0022531,GARD:0019807,GARD:0015836,Rare genetic disease +GARD:0006140,GARD:0022531,GARD:0019807,GARD:0015671,Rare genetic disease +GARD:0006140,GARD:0022531,GARD:0019807,GARD:0015669,Rare genetic disease +GARD:0006140,GARD:0022531,GARD:0019921,GARD:0015184,Rare genetic disease +GARD:0006140,GARD:0022531,GARD:0019921,GARD:0015668,Rare genetic disease +GARD:0006145,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0006145,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0006148,GARD:0022525,GARD:0020515,,Rare systemic or rheumatologic disease +GARD:0006148,GARD:0022511,GARD:0020515,,Rare bone disease +GARD:0006148,GARD:0022522,GARD:0020515,,Rare hematologic disease +GARD:0006148,GARD:0022531,GARD:0020685,,Rare genetic disease +GARD:0006148,GARD:0022531,GARD:0020515,,Rare genetic disease +GARD:0006161,GARD:0022531,GARD:0021123,GARD:0015258,Rare genetic disease +GARD:0006161,GARD:0022531,GARD:0020436,GARD:0016250,Rare genetic disease +GARD:0006161,GARD:0022531,GARD:0020432,GARD:0015258,Rare genetic disease +GARD:0006161,GARD:0022531,GARD:0005898,GARD:0016250,Rare genetic disease +GARD:0006161,GARD:0022531,GARD:0005898,GARD:0015258,Rare genetic disease +GARD:0006161,GARD:0022531,GARD:0021123,GARD:0016250,Rare genetic disease +GARD:0006161,GARD:0022531,GARD:0020432,GARD:0016250,Rare genetic disease +GARD:0006161,GARD:0022524,GARD:0005898,GARD:0015258,Rare neurologic disease +GARD:0006161,GARD:0022524,GARD:0005898,GARD:0016250,Rare neurologic disease +GARD:0006161,GARD:0022531,GARD:0020436,GARD:0015258,Rare genetic disease +GARD:0006164,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0006164,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0006168,GARD:0022512,GARD:0008378,,Rare renal disease +GARD:0006168,GARD:0022506,GARD:0008378,,Rare hepatic disease +GARD:0006168,GARD:0022529,GARD:0008378,,Rare infertility +GARD:0006168,GARD:0022531,GARD:0008378,,Rare genetic disease +GARD:0006168,GARD:0022536,GARD:0008378,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006169,GARD:0022512,GARD:0019256,,Rare renal disease +GARD:0006169,GARD:0022508,GARD:0019256,,Rare inborn errors of metabolism +GARD:0006169,GARD:0022510,GARD:0019256,,Rare skin disease +GARD:0006169,GARD:0022506,GARD:0019256,,Rare hepatic disease +GARD:0006169,GARD:0022531,GARD:0019256,,Rare genetic disease +GARD:0006176,GARD:0022531,GARD:0012301,,Rare genetic disease +GARD:0006176,GARD:0022524,GARD:0012301,,Rare neurologic disease +GARD:0006189,GARD:0022531,GARD:0018679,,Rare genetic disease +GARD:0006189,GARD:0022531,GARD:0019531,,Rare genetic disease +GARD:0006189,GARD:0022510,GARD:0021109,,Rare skin disease +GARD:0006189,GARD:0022513,GARD:0018969,,Rare developmental defect during embryogenesis +GARD:0006189,GARD:0022513,GARD:0018679,,Rare developmental defect during embryogenesis +GARD:0006189,GARD:0022520,GARD:0019531,,Rare ophthalmic disorder +GARD:0006189,GARD:0022508,GARD:0018969,,Rare inborn errors of metabolism +GARD:0006189,GARD:0022531,GARD:0021109,,Rare genetic disease +GARD:0006189,GARD:0022511,GARD:0018679,,Rare bone disease +GARD:0006189,GARD:0022531,GARD:0018969,,Rare genetic disease +GARD:0006194,GARD:0022513,GARD:0019558,GARD:0012484,Rare developmental defect during embryogenesis +GARD:0006194,GARD:0022513,GARD:0019558,GARD:0012483,Rare developmental defect during embryogenesis +GARD:0006194,GARD:0022519,GARD:0019558,GARD:0012483,Rare surgical cardiac disease +GARD:0006194,GARD:0022519,GARD:0019558,GARD:0012484,Rare surgical cardiac disease +GARD:0006196,GARD:0022531,GARD:0019520,,Rare genetic disease +GARD:0006196,GARD:0022520,GARD:0019520,,Rare ophthalmic disorder +GARD:0006202,GARD:0022535,GARD:0012800,GARD:0016450,Rare neoplastic disease +GARD:0006202,GARD:0022535,GARD:0022360,GARD:0016450,Rare neoplastic disease +GARD:0006202,GARD:0022535,GARD:0019847,GARD:0016465,Rare neoplastic disease +GARD:0006202,GARD:0022510,GARD:0012800,GARD:0016465,Rare skin disease +GARD:0006202,GARD:0022531,GARD:0022489,GARD:0016464,Rare genetic disease +GARD:0006202,GARD:0022535,GARD:0022360,GARD:0016463,Rare neoplastic disease +GARD:0006202,GARD:0022531,GARD:0022360,GARD:0016463,Rare genetic disease +GARD:0006202,GARD:0022535,GARD:0021176,GARD:0016463,Rare neoplastic disease +GARD:0006202,GARD:0022531,GARD:0021012,GARD:0016450,Rare genetic disease +GARD:0006202,GARD:0022513,GARD:0012800,GARD:0016465,Rare developmental defect during embryogenesis +GARD:0006202,GARD:0022513,GARD:0012800,GARD:0016450,Rare developmental defect during embryogenesis +GARD:0006202,GARD:0022510,GARD:0012800,GARD:0016470,Rare skin disease +GARD:0006202,GARD:0022531,GARD:0012800,GARD:0016463,Rare genetic disease +GARD:0006202,GARD:0022513,GARD:0012800,GARD:0016464,Rare developmental defect during embryogenesis +GARD:0006202,GARD:0022531,GARD:0021012,GARD:0016463,Rare genetic disease +GARD:0006202,GARD:0022535,GARD:0022360,GARD:0016465,Rare neoplastic disease +GARD:0006202,GARD:0022535,GARD:0019847,GARD:0016450,Rare neoplastic disease +GARD:0006202,GARD:0022510,GARD:0021176,GARD:0016470,Rare skin disease +GARD:0006202,GARD:0022535,GARD:0019847,GARD:0016464,Rare neoplastic disease +GARD:0006202,GARD:0022531,GARD:0012800,GARD:0016465,Rare genetic disease +GARD:0006202,GARD:0022535,GARD:0019847,GARD:0016470,Rare neoplastic disease +GARD:0006202,GARD:0022535,GARD:0021176,GARD:0016470,Rare neoplastic disease +GARD:0006202,GARD:0022516,GARD:0019847,GARD:0016450,Rare gastroenterologic disease +GARD:0006202,GARD:0022516,GARD:0019847,GARD:0016463,Rare gastroenterologic disease +GARD:0006202,GARD:0022535,GARD:0022360,GARD:0016470,Rare neoplastic disease +GARD:0006202,GARD:0022531,GARD:0021012,GARD:0016464,Rare genetic disease +GARD:0006202,GARD:0022535,GARD:0021176,GARD:0016465,Rare neoplastic disease +GARD:0006202,GARD:0022531,GARD:0022360,GARD:0016450,Rare genetic disease +GARD:0006202,GARD:0022531,GARD:0012800,GARD:0016470,Rare genetic disease +GARD:0006202,GARD:0022531,GARD:0019847,GARD:0016465,Rare genetic disease +GARD:0006202,GARD:0022535,GARD:0012800,GARD:0016470,Rare neoplastic disease +GARD:0006202,GARD:0022535,GARD:0012800,GARD:0016465,Rare neoplastic disease +GARD:0006202,GARD:0022535,GARD:0012800,GARD:0016464,Rare neoplastic disease +GARD:0006202,GARD:0022531,GARD:0022360,GARD:0016464,Rare genetic disease +GARD:0006202,GARD:0022516,GARD:0019847,GARD:0016470,Rare gastroenterologic disease +GARD:0006202,GARD:0022531,GARD:0022360,GARD:0016470,Rare genetic disease +GARD:0006202,GARD:0022531,GARD:0019847,GARD:0016470,Rare genetic disease +GARD:0006202,GARD:0022536,GARD:0019847,GARD:0016465,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006202,GARD:0022510,GARD:0021176,GARD:0016463,Rare skin disease +GARD:0006202,GARD:0022510,GARD:0012800,GARD:0016450,Rare skin disease +GARD:0006202,GARD:0022531,GARD:0022489,GARD:0016450,Rare genetic disease +GARD:0006202,GARD:0022535,GARD:0021176,GARD:0016464,Rare neoplastic disease +GARD:0006202,GARD:0022531,GARD:0021012,GARD:0016470,Rare genetic disease +GARD:0006202,GARD:0022531,GARD:0019847,GARD:0016450,Rare genetic disease +GARD:0006202,GARD:0022531,GARD:0012800,GARD:0016464,Rare genetic disease +GARD:0006202,GARD:0022536,GARD:0019847,GARD:0016463,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006202,GARD:0022531,GARD:0022360,GARD:0016465,Rare genetic disease +GARD:0006202,GARD:0022510,GARD:0021176,GARD:0016450,Rare skin disease +GARD:0006202,GARD:0022510,GARD:0012800,GARD:0016464,Rare skin disease +GARD:0006202,GARD:0022531,GARD:0019847,GARD:0016464,Rare genetic disease +GARD:0006202,GARD:0022531,GARD:0022489,GARD:0016465,Rare genetic disease +GARD:0006202,GARD:0022531,GARD:0012800,GARD:0016450,Rare genetic disease +GARD:0006202,GARD:0022535,GARD:0019847,GARD:0016463,Rare neoplastic disease +GARD:0006202,GARD:0022510,GARD:0021176,GARD:0016464,Rare skin disease +GARD:0006202,GARD:0022516,GARD:0019847,GARD:0016465,Rare gastroenterologic disease +GARD:0006202,GARD:0022531,GARD:0022489,GARD:0016470,Rare genetic disease +GARD:0006202,GARD:0022513,GARD:0012800,GARD:0016463,Rare developmental defect during embryogenesis +GARD:0006202,GARD:0022535,GARD:0021176,GARD:0016450,Rare neoplastic disease +GARD:0006202,GARD:0022531,GARD:0019847,GARD:0016463,Rare genetic disease +GARD:0006202,GARD:0022536,GARD:0019847,GARD:0016450,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006202,GARD:0022516,GARD:0019847,GARD:0016464,Rare gastroenterologic disease +GARD:0006202,GARD:0022535,GARD:0012800,GARD:0016463,Rare neoplastic disease +GARD:0006202,GARD:0022510,GARD:0012800,GARD:0016463,Rare skin disease +GARD:0006202,GARD:0022513,GARD:0012800,GARD:0016470,Rare developmental defect during embryogenesis +GARD:0006202,GARD:0022535,GARD:0022360,GARD:0016464,Rare neoplastic disease +GARD:0006202,GARD:0022510,GARD:0021176,GARD:0016465,Rare skin disease +GARD:0006202,GARD:0022531,GARD:0021012,GARD:0016465,Rare genetic disease +GARD:0006202,GARD:0022536,GARD:0019847,GARD:0016464,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006202,GARD:0022531,GARD:0022489,GARD:0016463,Rare genetic disease +GARD:0006202,GARD:0022536,GARD:0019847,GARD:0016470,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006205,GARD:0022531,GARD:0021802,,Rare genetic disease +GARD:0006205,GARD:0022524,GARD:0019575,,Rare neurologic disease +GARD:0006205,GARD:0022524,GARD:0021754,,Rare neurologic disease +GARD:0006206,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0006206,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0006206,GARD:0022520,GARD:0019543,,Rare ophthalmic disorder +GARD:0006206,GARD:0022531,GARD:0019533,,Rare genetic disease +GARD:0006206,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0006206,GARD:0022520,GARD:0019533,,Rare ophthalmic disorder +GARD:0006206,GARD:0022531,GARD:0019543,,Rare genetic disease +GARD:0006209,GARD:0022511,GARD:0021571,GARD:0019911,Rare bone disease +GARD:0006209,GARD:0022531,GARD:0020294,GARD:0019911,Rare genetic disease +GARD:0006209,GARD:0022511,GARD:0021571,GARD:0019910,Rare bone disease +GARD:0006209,GARD:0022531,GARD:0021725,GARD:0019910,Rare genetic disease +GARD:0006209,GARD:0022531,GARD:0020294,GARD:0019910,Rare genetic disease +GARD:0006209,GARD:0022513,GARD:0019390,GARD:0019911,Rare developmental defect during embryogenesis +GARD:0006209,GARD:0022513,GARD:0021571,GARD:0019910,Rare developmental defect during embryogenesis +GARD:0006209,GARD:0022513,GARD:0021571,GARD:0019911,Rare developmental defect during embryogenesis +GARD:0006209,GARD:0022513,GARD:0019390,GARD:0019910,Rare developmental defect during embryogenesis +GARD:0006209,GARD:0022531,GARD:0021725,GARD:0019911,Rare genetic disease +GARD:0006213,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0006213,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0006213,GARD:0022531,GARD:0020809,,Rare genetic disease +GARD:0006213,GARD:0022513,GARD:0020809,,Rare developmental defect during embryogenesis +GARD:0006213,GARD:0022520,GARD:0019504,,Rare ophthalmic disorder +GARD:0006213,GARD:0022531,GARD:0019504,,Rare genetic disease +GARD:0006213,GARD:0022513,GARD:0019504,,Rare developmental defect during embryogenesis +GARD:0006217,GARD:0022522,GARD:0020678,,Rare hematologic disease +GARD:0006217,GARD:0022524,GARD:0020417,,Rare neurologic disease +GARD:0006217,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0006218,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0006224,GARD:0022521,GARD:0019798,GARD:0019700,Rare endocrine disease +GARD:0006224,GARD:0022521,GARD:0019798,GARD:0019699,Rare endocrine disease +GARD:0006224,GARD:0022521,GARD:0019798,GARD:0021388,Rare endocrine disease +GARD:0006224,GARD:0022521,GARD:0019798,GARD:0010824,Rare endocrine disease +GARD:0006225,GARD:0022510,GARD:0021400,GARD:0020043,Rare skin disease +GARD:0006225,GARD:0022510,GARD:0021400,GARD:0020042,Rare skin disease +GARD:0006226,GARD:0022522,GARD:0020133,GARD:0020161,Rare hematologic disease +GARD:0006226,GARD:0022535,GARD:0018698,GARD:0020161,Rare neoplastic disease +GARD:0006226,GARD:0022535,GARD:0020133,GARD:0020161,Rare neoplastic disease +GARD:0006226,GARD:0022536,GARD:0018698,GARD:0020162,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006226,GARD:0022535,GARD:0018698,GARD:0020162,Rare neoplastic disease +GARD:0006226,GARD:0022522,GARD:0018698,GARD:0020161,Rare hematologic disease +GARD:0006226,GARD:0022536,GARD:0020133,GARD:0020161,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006226,GARD:0022535,GARD:0020133,GARD:0020162,Rare neoplastic disease +GARD:0006226,GARD:0022536,GARD:0020133,GARD:0020162,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006226,GARD:0022510,GARD:0018698,GARD:0020161,Rare skin disease +GARD:0006226,GARD:0022522,GARD:0020133,GARD:0020162,Rare hematologic disease +GARD:0006226,GARD:0022510,GARD:0018698,GARD:0020162,Rare skin disease +GARD:0006226,GARD:0022522,GARD:0018698,GARD:0020162,Rare hematologic disease +GARD:0006226,GARD:0022536,GARD:0018698,GARD:0020161,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006227,GARD:0022510,GARD:0020574,GARD:0008480,Rare skin disease +GARD:0006227,GARD:0022531,GARD:0020574,GARD:0000774,Rare genetic disease +GARD:0006227,GARD:0022531,GARD:0019904,GARD:0001639,Rare genetic disease +GARD:0006227,GARD:0022534,GARD:0019864,GARD:0000247,Rare abdominal surgical disease +GARD:0006227,GARD:0022513,GARD:0019905,GARD:0017120,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0020574,GARD:0000049,Rare genetic disease +GARD:0006227,GARD:0022518,GARD:0020212,GARD:0001639,Rare surgical thoracic disease +GARD:0006227,GARD:0022513,GARD:0019905,GARD:0000247,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0020574,GARD:0017140,Rare genetic disease +GARD:0006227,GARD:0022510,GARD:0020574,GARD:0000247,Rare skin disease +GARD:0006227,GARD:0022510,GARD:0020574,GARD:0001639,Rare skin disease +GARD:0006227,GARD:0022513,GARD:0019904,GARD:0017140,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022518,GARD:0020212,GARD:0000247,Rare surgical thoracic disease +GARD:0006227,GARD:0022531,GARD:0019905,GARD:0019134,Rare genetic disease +GARD:0006227,GARD:0022531,GARD:0019905,GARD:0001639,Rare genetic disease +GARD:0006227,GARD:0022510,GARD:0020574,GARD:0019134,Rare skin disease +GARD:0006227,GARD:0022531,GARD:0019905,GARD:0000413,Rare genetic disease +GARD:0006227,GARD:0022518,GARD:0020212,GARD:0019134,Rare surgical thoracic disease +GARD:0006227,GARD:0022534,GARD:0019864,GARD:0017140,Rare abdominal surgical disease +GARD:0006227,GARD:0022510,GARD:0020574,GARD:0004017,Rare skin disease +GARD:0006227,GARD:0022513,GARD:0019904,GARD:0008480,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0019904,GARD:0017140,Rare genetic disease +GARD:0006227,GARD:0022513,GARD:0019864,GARD:0017140,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0019905,GARD:0017140,Rare genetic disease +GARD:0006227,GARD:0022513,GARD:0019864,GARD:0017432,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022513,GARD:0019905,GARD:0017432,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022513,GARD:0019864,GARD:0019134,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0019904,GARD:0019134,Rare genetic disease +GARD:0006227,GARD:0022531,GARD:0019904,GARD:0008480,Rare genetic disease +GARD:0006227,GARD:0022531,GARD:0019904,GARD:0000049,Rare genetic disease +GARD:0006227,GARD:0022534,GARD:0019864,GARD:0004017,Rare abdominal surgical disease +GARD:0006227,GARD:0022531,GARD:0019904,GARD:0000413,Rare genetic disease +GARD:0006227,GARD:0022513,GARD:0019904,GARD:0017432,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0019905,GARD:0017432,Rare genetic disease +GARD:0006227,GARD:0022513,GARD:0019904,GARD:0000774,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022518,GARD:0020212,GARD:0017432,Rare surgical thoracic disease +GARD:0006227,GARD:0022531,GARD:0019905,GARD:0000049,Rare genetic disease +GARD:0006227,GARD:0022513,GARD:0019904,GARD:0017120,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022513,GARD:0019904,GARD:0004017,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022534,GARD:0019864,GARD:0000049,Rare abdominal surgical disease +GARD:0006227,GARD:0022513,GARD:0019864,GARD:0000413,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0019905,GARD:0017120,Rare genetic disease +GARD:0006227,GARD:0022518,GARD:0020212,GARD:0017140,Rare surgical thoracic disease +GARD:0006227,GARD:0022518,GARD:0020212,GARD:0000413,Rare surgical thoracic disease +GARD:0006227,GARD:0022513,GARD:0019905,GARD:0001639,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022534,GARD:0019864,GARD:0017120,Rare abdominal surgical disease +GARD:0006227,GARD:0022531,GARD:0020574,GARD:0000247,Rare genetic disease +GARD:0006227,GARD:0022513,GARD:0019864,GARD:0000774,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022513,GARD:0019904,GARD:0000413,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0019904,GARD:0000774,Rare genetic disease +GARD:0006227,GARD:0022534,GARD:0019864,GARD:0019134,Rare abdominal surgical disease +GARD:0006227,GARD:0022513,GARD:0019905,GARD:0019134,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022510,GARD:0020574,GARD:0000774,Rare skin disease +GARD:0006227,GARD:0022513,GARD:0019864,GARD:0017120,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022513,GARD:0019864,GARD:0001639,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022513,GARD:0019864,GARD:0000049,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022513,GARD:0019905,GARD:0000049,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0020574,GARD:0019134,Rare genetic disease +GARD:0006227,GARD:0022513,GARD:0019905,GARD:0000413,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0019904,GARD:0004017,Rare genetic disease +GARD:0006227,GARD:0022531,GARD:0019904,GARD:0000247,Rare genetic disease +GARD:0006227,GARD:0022534,GARD:0019864,GARD:0008480,Rare abdominal surgical disease +GARD:0006227,GARD:0022534,GARD:0019864,GARD:0017432,Rare abdominal surgical disease +GARD:0006227,GARD:0022513,GARD:0019905,GARD:0004017,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0019905,GARD:0000247,Rare genetic disease +GARD:0006227,GARD:0022531,GARD:0019905,GARD:0000774,Rare genetic disease +GARD:0006227,GARD:0022513,GARD:0019864,GARD:0004017,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0019905,GARD:0004017,Rare genetic disease +GARD:0006227,GARD:0022534,GARD:0019864,GARD:0000413,Rare abdominal surgical disease +GARD:0006227,GARD:0022513,GARD:0019864,GARD:0017571,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0019904,GARD:0017432,Rare genetic disease +GARD:0006227,GARD:0022513,GARD:0019905,GARD:0017140,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022518,GARD:0020212,GARD:0000774,Rare surgical thoracic disease +GARD:0006227,GARD:0022518,GARD:0020212,GARD:0017571,Rare surgical thoracic disease +GARD:0006227,GARD:0022531,GARD:0019904,GARD:0017120,Rare genetic disease +GARD:0006227,GARD:0022534,GARD:0019864,GARD:0000774,Rare abdominal surgical disease +GARD:0006227,GARD:0022510,GARD:0020574,GARD:0017120,Rare skin disease +GARD:0006227,GARD:0022513,GARD:0019864,GARD:0000247,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022513,GARD:0019904,GARD:0001639,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0019904,GARD:0017571,Rare genetic disease +GARD:0006227,GARD:0022510,GARD:0020574,GARD:0000413,Rare skin disease +GARD:0006227,GARD:0022534,GARD:0019864,GARD:0001639,Rare abdominal surgical disease +GARD:0006227,GARD:0022513,GARD:0019904,GARD:0000247,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022534,GARD:0019864,GARD:0017571,Rare abdominal surgical disease +GARD:0006227,GARD:0022518,GARD:0020212,GARD:0008480,Rare surgical thoracic disease +GARD:0006227,GARD:0022531,GARD:0020574,GARD:0017432,Rare genetic disease +GARD:0006227,GARD:0022513,GARD:0019864,GARD:0008480,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022513,GARD:0019905,GARD:0017571,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0020574,GARD:0000413,Rare genetic disease +GARD:0006227,GARD:0022531,GARD:0019905,GARD:0017571,Rare genetic disease +GARD:0006227,GARD:0022531,GARD:0020574,GARD:0017571,Rare genetic disease +GARD:0006227,GARD:0022510,GARD:0020574,GARD:0017140,Rare skin disease +GARD:0006227,GARD:0022510,GARD:0020574,GARD:0000049,Rare skin disease +GARD:0006227,GARD:0022531,GARD:0019905,GARD:0008480,Rare genetic disease +GARD:0006227,GARD:0022513,GARD:0019904,GARD:0017571,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0020574,GARD:0017120,Rare genetic disease +GARD:0006227,GARD:0022513,GARD:0019904,GARD:0000049,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0020574,GARD:0001639,Rare genetic disease +GARD:0006227,GARD:0022518,GARD:0020212,GARD:0017120,Rare surgical thoracic disease +GARD:0006227,GARD:0022510,GARD:0020574,GARD:0017432,Rare skin disease +GARD:0006227,GARD:0022513,GARD:0019905,GARD:0000774,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022518,GARD:0020212,GARD:0000049,Rare surgical thoracic disease +GARD:0006227,GARD:0022518,GARD:0020212,GARD:0004017,Rare surgical thoracic disease +GARD:0006227,GARD:0022513,GARD:0019904,GARD:0019134,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022513,GARD:0019905,GARD:0008480,Rare developmental defect during embryogenesis +GARD:0006227,GARD:0022531,GARD:0020574,GARD:0008480,Rare genetic disease +GARD:0006227,GARD:0022510,GARD:0020574,GARD:0017571,Rare skin disease +GARD:0006227,GARD:0022531,GARD:0020574,GARD:0004017,Rare genetic disease +GARD:0006228,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0006228,GARD:0022513,GARD:0020461,,Rare developmental defect during embryogenesis +GARD:0006228,GARD:0022527,GARD:0020461,,Rare circulatory system disease +GARD:0006229,GARD:0022523,GARD:0019809,,Rare immune disease +GARD:0006229,GARD:0022531,GARD:0019809,,Rare genetic disease +GARD:0006229,GARD:0022536,GARD:0019809,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006233,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0006233,GARD:0022536,GARD:0022064,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006233,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0006233,GARD:0022529,GARD:0021677,,Rare infertility +GARD:0006233,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0006233,GARD:0022516,GARD:0019787,,Rare gastroenterologic disease +GARD:0006233,GARD:0022531,GARD:0020006,,Rare genetic disease +GARD:0006233,GARD:0022531,GARD:0021689,,Rare genetic disease +GARD:0006233,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006233,GARD:0022531,GARD:0020062,,Rare genetic disease +GARD:0006236,GARD:0022508,GARD:0018974,GARD:0009756,Rare inborn errors of metabolism +GARD:0006236,GARD:0022531,GARD:0018974,GARD:0009756,Rare genetic disease +GARD:0006236,GARD:0022531,GARD:0018974,GARD:0009755,Rare genetic disease +GARD:0006236,GARD:0022508,GARD:0018974,GARD:0017685,Rare inborn errors of metabolism +GARD:0006236,GARD:0022531,GARD:0018974,GARD:0017685,Rare genetic disease +GARD:0006236,GARD:0022508,GARD:0018974,GARD:0009755,Rare inborn errors of metabolism +GARD:0006237,GARD:0022531,GARD:0018948,GARD:0016827,Rare genetic disease +GARD:0006237,GARD:0022531,GARD:0018948,GARD:0016828,Rare genetic disease +GARD:0006237,GARD:0022536,GARD:0022061,GARD:0016828,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006237,GARD:0022512,GARD:0019230,GARD:0016827,Rare renal disease +GARD:0006237,GARD:0022536,GARD:0022061,GARD:0016827,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006237,GARD:0022531,GARD:0020306,GARD:0016828,Rare genetic disease +GARD:0006237,GARD:0022508,GARD:0018948,GARD:0016827,Rare inborn errors of metabolism +GARD:0006237,GARD:0022531,GARD:0020306,GARD:0016827,Rare genetic disease +GARD:0006237,GARD:0022512,GARD:0019230,GARD:0016828,Rare renal disease +GARD:0006237,GARD:0022508,GARD:0018948,GARD:0016828,Rare inborn errors of metabolism +GARD:0006242,GARD:0022524,GARD:0019483,GARD:0020994,Rare neurologic disease +GARD:0006242,GARD:0022513,GARD:0019483,GARD:0020994,Rare developmental defect during embryogenesis +GARD:0006242,GARD:0022531,GARD:0021005,GARD:0020994,Rare genetic disease +GARD:0006242,GARD:0022531,GARD:0021005,GARD:0020993,Rare genetic disease +GARD:0006242,GARD:0022513,GARD:0019483,GARD:0020993,Rare developmental defect during embryogenesis +GARD:0006242,GARD:0022524,GARD:0019483,GARD:0020993,Rare neurologic disease +GARD:0006243,GARD:0022531,GARD:0018991,,Rare genetic disease +GARD:0006243,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0006249,GARD:0022531,GARD:0020273,,Rare genetic disease +GARD:0006249,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0006249,GARD:0022531,GARD:0021018,,Rare genetic disease +GARD:0006249,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0006254,GARD:0022509,GARD:0018690,,Rare infectious disease +GARD:0006258,GARD:0022531,GARD:0020094,GARD:0012796,Rare genetic disease +GARD:0006258,GARD:0022526,GARD:0020094,GARD:0012796,Rare odontologic disease +GARD:0006258,GARD:0022526,GARD:0020094,GARD:0010144,Rare odontologic disease +GARD:0006258,GARD:0022531,GARD:0020094,GARD:0010144,Rare genetic disease +GARD:0006263,GARD:0022512,GARD:0022291,,Rare renal disease +GARD:0006263,GARD:0022536,GARD:0022291,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006263,GARD:0022524,GARD:0009128,,Rare neurologic disease +GARD:0006263,GARD:0022510,GARD:0021160,,Rare skin disease +GARD:0006263,GARD:0022525,GARD:0009128,,Rare systemic or rheumatologic disease +GARD:0006265,GARD:0022534,GARD:0020101,,Rare abdominal surgical disease +GARD:0006265,GARD:0022536,GARD:0020101,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006265,GARD:0022535,GARD:0020101,,Rare neoplastic disease +GARD:0006265,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0006267,GARD:0022520,GARD:0022037,GARD:0022373,Rare ophthalmic disorder +GARD:0006267,GARD:0022524,GARD:0020571,GARD:0022374,Rare neurologic disease +GARD:0006267,GARD:0022520,GARD:0022037,GARD:0022374,Rare ophthalmic disorder +GARD:0006267,GARD:0022520,GARD:0022037,GARD:0022372,Rare ophthalmic disorder +GARD:0006267,GARD:0022524,GARD:0020571,GARD:0022373,Rare neurologic disease +GARD:0006267,GARD:0022524,GARD:0020571,GARD:0022372,Rare neurologic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0015568,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0016338,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0016227,Rare neurologic disease +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0016340,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0015569,Rare neoplastic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0016228,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0015390,Rare inborn errors of metabolism +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0015645,Rare neoplastic disease +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0015645,Rare inborn errors of metabolism +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0015562,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0015985,Rare genetic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0015562,Rare neoplastic disease +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0015275,Rare genetic disease +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0008283,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0015645,Rare hematologic disease +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0015390,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0015561,Rare genetic disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0008283,Rare hematologic disease +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0016339,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0016340,Rare genetic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0015390,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0016339,Rare neurologic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0016339,Rare genetic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0016227,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0015985,Rare hematologic disease +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0016339,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0015570,Rare genetic disease +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0015039,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0015570,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0015985,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0015644,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0015985,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0015645,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0015985,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0016338,Rare genetic disease +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0015570,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0015039,Rare hematologic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0015985,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0016339,Rare genetic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0015985,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0015568,Rare neoplastic disease +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0016340,Rare inborn errors of metabolism +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0016339,Rare genetic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0016228,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0015879,Rare inborn errors of metabolism +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0016227,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0016030,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0015039,Rare neoplastic disease +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0016338,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0016030,Rare genetic disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0010241,Rare hematologic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0015568,Rare genetic disease +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0015570,Rare inborn errors of metabolism +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0016338,Rare neurologic disease +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0015879,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0015039,Rare neurologic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0010241,Rare neoplastic disease +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0016338,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0015562,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0008283,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0016228,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0015569,Rare genetic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0010241,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0015879,Rare hematologic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0016227,Rare genetic disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0015390,Rare neurologic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0010241,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0015568,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0015645,Rare neurologic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0015390,Rare neoplastic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0015561,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0016228,Rare hematologic disease +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0015569,Rare inborn errors of metabolism +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0015644,Rare neoplastic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0015569,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0016228,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0015570,Rare genetic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0015569,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0010241,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0016030,Rare genetic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0015561,Rare neoplastic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0015390,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0015570,Rare hematologic disease +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0016338,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0015879,Rare genetic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0016339,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0015644,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0015568,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0016338,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0016340,Rare genetic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0015275,Rare neoplastic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0016338,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0016339,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0015561,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0015645,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0016228,Rare genetic disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0015562,Rare neurologic disease +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0015568,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0015275,Rare genetic disease +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0015879,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0015644,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0015561,Rare genetic disease +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0015039,Rare inborn errors of metabolism +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0016228,Rare genetic disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0016228,Rare neurologic disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0015879,Rare neurologic disease +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0015879,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0008283,Rare genetic disease +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0015275,Rare inborn errors of metabolism +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0016030,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0015644,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0015275,Rare genetic disease +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0016227,Rare inborn errors of metabolism +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0015568,Rare inborn errors of metabolism +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0010241,Rare neurologic disease +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0015568,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0015570,Rare genetic disease +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0015039,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0015568,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0016340,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0015879,Rare genetic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0008283,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0016340,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0015562,Rare inborn errors of metabolism +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0015645,Rare genetic disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0015568,Rare neurologic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0015570,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0015879,Rare genetic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0016030,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0016227,Rare genetic disease +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0016339,Rare inborn errors of metabolism +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0008283,Rare inborn errors of metabolism +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0016228,Rare inborn errors of metabolism +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0008283,Rare neurologic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0016030,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0015390,Rare genetic disease +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0015569,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0015879,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0015275,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0016228,Rare genetic disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0015568,Rare hematologic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0015275,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0015390,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0016030,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0016227,Rare genetic disease +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0015561,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0015644,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0015568,Rare genetic disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0015275,Rare hematologic disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0015569,Rare neurologic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0016338,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0015039,Rare genetic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0015275,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0015644,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0015390,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0015985,Rare genetic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0016339,Rare neoplastic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0015569,Rare genetic disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0015569,Rare hematologic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0016227,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0015039,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0015562,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0010241,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0016340,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0010241,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0015879,Rare genetic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0015039,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0010241,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0015569,Rare genetic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0015645,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0015275,Rare neurologic disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0016339,Rare genetic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0015570,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0015644,Rare genetic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0015570,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0016030,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0015039,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0008283,Rare genetic disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0015644,Rare neurologic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0016228,Rare neoplastic disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0015561,Rare neurologic disease +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0016228,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0016030,Rare hematologic disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0015275,Rare genetic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0015568,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0015985,Rare inborn errors of metabolism +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0015561,Rare hematologic disease +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0015644,Rare genetic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0015570,Rare neoplastic disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0015390,Rare hematologic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0015390,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0016030,Rare genetic disease +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0016338,Rare inborn errors of metabolism +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0015561,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0015561,Rare genetic disease +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0015275,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0016340,Rare genetic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0016030,Rare neoplastic disease +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0015562,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0015390,Rare genetic disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0016338,Rare hematologic disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0015644,Rare hematologic disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0015985,Rare neurologic disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0015570,Rare neurologic disease +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0015644,Rare inborn errors of metabolism +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0016340,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0010241,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0015879,Rare neoplastic disease +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0016227,Rare genetic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0015275,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0015562,Rare genetic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0015039,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0016339,Rare hematologic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0016338,Rare neoplastic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0008283,Rare genetic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0015645,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0015562,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0015562,Rare genetic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0015562,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0015561,Rare genetic disease +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0015645,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0010241,Rare genetic disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0015562,Rare hematologic disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0016227,Rare hematologic disease +GARD:0006274,GARD:0022522,GARD:0018889,GARD:0016340,Rare hematologic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0015879,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0010241,Rare inborn errors of metabolism +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0015569,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0016030,Rare inborn errors of metabolism +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0016340,Rare neoplastic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0016227,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0015039,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0010241,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0015561,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0015644,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0020259,GARD:0015645,Rare genetic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0008283,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0016228,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0015570,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0015039,Rare genetic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0016227,Rare neoplastic disease +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0015985,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0015985,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0015390,Rare genetic disease +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0008283,Rare neoplastic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0016340,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022531,GARD:0018965,GARD:0015569,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0022440,GARD:0008283,Rare genetic disease +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0008283,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022531,GARD:0018889,GARD:0015645,Rare genetic disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0016030,Rare neurologic disease +GARD:0006274,GARD:0022524,GARD:0022440,GARD:0016340,Rare neurologic disease +GARD:0006274,GARD:0022507,GARD:0019908,GARD:0016339,Rare maxillo-facial surgical disease +GARD:0006274,GARD:0022528,GARD:0019908,GARD:0015562,Rare otorhinolaryngologic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0016338,Rare genetic disease +GARD:0006274,GARD:0022531,GARD:0019908,GARD:0015645,Rare genetic disease +GARD:0006274,GARD:0022536,GARD:0018889,GARD:0015569,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006274,GARD:0022513,GARD:0019908,GARD:0016227,Rare developmental defect during embryogenesis +GARD:0006274,GARD:0022508,GARD:0018965,GARD:0015561,Rare inborn errors of metabolism +GARD:0006274,GARD:0022535,GARD:0020259,GARD:0015985,Rare neoplastic disease +GARD:0006275,GARD:0022531,GARD:0021569,,Rare genetic disease +GARD:0006275,GARD:0022531,GARD:0019188,,Rare genetic disease +GARD:0006275,GARD:0022511,GARD:0021569,,Rare bone disease +GARD:0006275,GARD:0022513,GARD:0021569,,Rare developmental defect during embryogenesis +GARD:0006276,GARD:0022521,GARD:0020218,,Rare endocrine disease +GARD:0006286,GARD:0022509,GARD:0018757,,Rare infectious disease +GARD:0006288,GARD:0022524,GARD:0019482,GARD:0010691,Rare neurologic disease +GARD:0006288,GARD:0022513,GARD:0019482,GARD:0009966,Rare developmental defect during embryogenesis +GARD:0006288,GARD:0022531,GARD:0022150,GARD:0010691,Rare genetic disease +GARD:0006288,GARD:0022520,GARD:0022115,GARD:0010763,Rare ophthalmic disorder +GARD:0006288,GARD:0022524,GARD:0019482,GARD:0009966,Rare neurologic disease +GARD:0006288,GARD:0022513,GARD:0019482,GARD:0010691,Rare developmental defect during embryogenesis +GARD:0006288,GARD:0022531,GARD:0022150,GARD:0009966,Rare genetic disease +GARD:0006288,GARD:0022520,GARD:0022115,GARD:0009966,Rare ophthalmic disorder +GARD:0006288,GARD:0022524,GARD:0019482,GARD:0010763,Rare neurologic disease +GARD:0006288,GARD:0022513,GARD:0019482,GARD:0010763,Rare developmental defect during embryogenesis +GARD:0006288,GARD:0022531,GARD:0019482,GARD:0010763,Rare genetic disease +GARD:0006288,GARD:0022531,GARD:0019482,GARD:0009966,Rare genetic disease +GARD:0006288,GARD:0022531,GARD:0019482,GARD:0010691,Rare genetic disease +GARD:0006288,GARD:0022531,GARD:0022150,GARD:0010763,Rare genetic disease +GARD:0006288,GARD:0022520,GARD:0022115,GARD:0010691,Rare ophthalmic disorder +GARD:0006290,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0006290,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0006290,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0006290,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0006290,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0006290,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0006290,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0006290,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0006290,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0006290,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0006290,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0006290,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0006290,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0006290,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0006291,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0006291,GARD:0022520,GARD:0022118,,Rare ophthalmic disorder +GARD:0006291,GARD:0022524,GARD:0018686,,Rare neurologic disease +GARD:0006291,GARD:0022531,GARD:0018686,,Rare genetic disease +GARD:0006291,GARD:0022531,GARD:0022158,,Rare genetic disease +GARD:0006291,GARD:0022515,GARD:0018686,,Rare cardiac disease +GARD:0006291,GARD:0022536,GARD:0018686,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006291,GARD:0022531,GARD:0002031,,Rare genetic disease +GARD:0006291,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0006295,GARD:0022524,GARD:0019832,GARD:0015290,Rare neurologic disease +GARD:0006295,GARD:0022531,GARD:0007687,GARD:0015290,Rare genetic disease +GARD:0006295,GARD:0022513,GARD:0019832,GARD:0015290,Rare developmental defect during embryogenesis +GARD:0006295,GARD:0022531,GARD:0022441,GARD:0015290,Rare genetic disease +GARD:0006295,GARD:0022511,GARD:0007687,GARD:0015290,Rare bone disease +GARD:0006295,GARD:0022513,GARD:0007687,GARD:0015290,Rare developmental defect during embryogenesis +GARD:0006299,GARD:0022535,GARD:0010905,,Rare neoplastic disease +GARD:0006299,GARD:0022536,GARD:0010905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006299,GARD:0022513,GARD:0010905,,Rare developmental defect during embryogenesis +GARD:0006299,GARD:0022520,GARD:0010905,,Rare ophthalmic disorder +GARD:0006299,GARD:0022510,GARD:0010905,,Rare skin disease +GARD:0006299,GARD:0022524,GARD:0010905,,Rare neurologic disease +GARD:0006299,GARD:0022523,GARD:0010905,,Rare immune disease +GARD:0006299,GARD:0022522,GARD:0010905,,Rare hematologic disease +GARD:0006299,GARD:0022531,GARD:0010905,,Rare genetic disease +GARD:0006300,GARD:0022510,GARD:0010905,,Rare skin disease +GARD:0006300,GARD:0022536,GARD:0010905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006300,GARD:0022522,GARD:0010905,,Rare hematologic disease +GARD:0006300,GARD:0022520,GARD:0010905,,Rare ophthalmic disorder +GARD:0006300,GARD:0022531,GARD:0010905,,Rare genetic disease +GARD:0006300,GARD:0022513,GARD:0010905,,Rare developmental defect during embryogenesis +GARD:0006300,GARD:0022524,GARD:0010905,,Rare neurologic disease +GARD:0006300,GARD:0022523,GARD:0010905,,Rare immune disease +GARD:0006300,GARD:0022535,GARD:0010905,,Rare neoplastic disease +GARD:0006308,GARD:0022513,GARD:0002150,,Rare developmental defect during embryogenesis +GARD:0006308,GARD:0022531,GARD:0022175,,Rare genetic disease +GARD:0006308,GARD:0022531,GARD:0002150,,Rare genetic disease +GARD:0006308,GARD:0022510,GARD:0002150,,Rare skin disease +GARD:0006308,GARD:0022520,GARD:0022090,,Rare ophthalmic disorder +GARD:0006309,GARD:0022520,GARD:0022104,,Rare ophthalmic disorder +GARD:0006309,GARD:0022531,GARD:0022184,,Rare genetic disease +GARD:0006313,GARD:0022513,GARD:0019555,,Rare developmental defect during embryogenesis +GARD:0006313,GARD:0022519,GARD:0019555,,Rare surgical cardiac disease +GARD:0006313,GARD:0022531,GARD:0021969,,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0003100,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000605,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0003704,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0002056,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0006984,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000604,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000819,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000378,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0002044,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0008509,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0016649,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0008416,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0002381,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0008550,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0006457,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0010367,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0009705,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0017199,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0009146,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0002324,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0004369,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0003113,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0005231,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0006571,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0001233,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000292,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000288,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000604,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0001687,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0016624,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0010526,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0018763,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0003704,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0008509,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0005125,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0002078,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0006984,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0010367,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000305,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0005266,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000237,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0008416,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0004054,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0004121,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0017199,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0009705,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0016607,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0019512,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000992,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0012109,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0002056,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000117,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0002044,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0002078,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000076,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0016578,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0004121,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0001301,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0003100,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0012109,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000375,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0010163,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0022358,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0002049,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0001687,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0009705,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000605,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0004427,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000280,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0016903,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0005199,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0005029,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0003113,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0017384,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0002056,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0001814,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0019512,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0008509,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000280,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000359,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0001052,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0004121,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0004121,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000280,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000604,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0002045,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0010366,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000310,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0002055,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000265,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0009705,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0002682,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0003704,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000400,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000992,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000143,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0018763,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0004369,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0009936,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0006996,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0002055,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0017199,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0010366,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0017703,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0005267,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0009146,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0009723,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0006457,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0019512,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0001814,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0004051,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000400,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0021451,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0017384,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0017776,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000290,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0001139,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0001052,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0005267,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0006571,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0004364,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0001139,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0017198,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0003912,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000292,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000237,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0001233,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0016679,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0004364,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0009723,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000290,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0005266,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0017776,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0012109,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0003912,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000378,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0002324,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0001814,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0006290,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0005595,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000497,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0017384,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0003100,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0018943,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0022358,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0016682,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0007239,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0003066,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0001687,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000265,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000117,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0002056,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0002324,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0007799,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0008550,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0016680,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0010163,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0002045,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0002381,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000497,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000938,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000375,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0003066,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000469,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0016681,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0001139,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0017703,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000819,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0001233,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0006457,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0021408,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0006996,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000647,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0003128,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000159,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0016680,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0017198,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0003113,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0016680,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0010905,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0006290,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0016679,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000080,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000400,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000066,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0001816,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0004051,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0002045,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0005029,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000277,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000076,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000159,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0004436,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0007239,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0004054,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0009723,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0002071,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0002045,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0010367,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0006996,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0008416,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0005231,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000310,Rare skin disease 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+GARD:0006317,GARD:0022513,GARD:0019904,GARD:0010905,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0001189,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0009936,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0003128,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000265,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000497,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0001814,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0001687,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0001531,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0002055,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000277,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0005266,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0019683,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0004436,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0005199,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0016607,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0002044,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000932,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0004051,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0002049,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0010163,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000359,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0021408,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0006778,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000938,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0019683,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0005231,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0006290,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0005595,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0006457,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0010163,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000292,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0001531,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000290,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0007799,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0003066,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0004364,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0002381,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0010526,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000292,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000932,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0002682,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0002078,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0016682,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0003128,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0003100,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0016607,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000237,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0005587,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0000375,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0016624,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000080,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0006984,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0001515,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0002865,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0016682,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0003113,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0016578,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0010526,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000819,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0006778,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0001816,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0005199,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0008509,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0006996,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0016681,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0009723,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0016680,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0004436,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0004051,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0002865,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000143,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0009936,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0006571,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0017776,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0022358,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0016679,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0000932,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0018943,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0006290,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0000932,Rare skin disease +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000305,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0016624,Rare genetic disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0019683,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000076,Rare genetic disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0002044,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0003066,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0016624,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0010367,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0005587,Rare skin disease +GARD:0006317,GARD:0022510,GARD:0018993,GARD:0010526,Rare skin disease +GARD:0006317,GARD:0022513,GARD:0019904,GARD:0001052,Rare developmental defect during embryogenesis +GARD:0006317,GARD:0022531,GARD:0019904,GARD:0000159,Rare genetic disease +GARD:0006317,GARD:0022531,GARD:0020265,GARD:0001052,Rare genetic disease +GARD:0006319,GARD:0022511,GARD:0022030,GARD:0015166,Rare bone disease +GARD:0006319,GARD:0022513,GARD:0022030,GARD:0015378,Rare developmental defect during embryogenesis +GARD:0006319,GARD:0022531,GARD:0022030,GARD:0015308,Rare genetic disease +GARD:0006319,GARD:0022513,GARD:0022030,GARD:0015193,Rare developmental defect during embryogenesis +GARD:0006319,GARD:0022531,GARD:0022030,GARD:0015378,Rare genetic disease +GARD:0006319,GARD:0022511,GARD:0022030,GARD:0015398,Rare bone disease +GARD:0006319,GARD:0022531,GARD:0022030,GARD:0015398,Rare genetic disease +GARD:0006319,GARD:0022513,GARD:0022030,GARD:0015308,Rare developmental defect during embryogenesis +GARD:0006319,GARD:0022513,GARD:0022030,GARD:0015166,Rare developmental defect during embryogenesis +GARD:0006319,GARD:0022513,GARD:0022030,GARD:0015398,Rare developmental defect during embryogenesis +GARD:0006319,GARD:0022511,GARD:0022030,GARD:0015378,Rare bone disease +GARD:0006319,GARD:0022511,GARD:0022030,GARD:0015193,Rare bone disease +GARD:0006319,GARD:0022531,GARD:0022030,GARD:0015166,Rare genetic disease +GARD:0006319,GARD:0022511,GARD:0022030,GARD:0015308,Rare bone disease +GARD:0006319,GARD:0022531,GARD:0022030,GARD:0015193,Rare genetic disease +GARD:0006321,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0006321,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0006321,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0006321,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006321,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0006321,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0006321,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0006321,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0006321,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0006321,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006321,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0006321,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0006321,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0006321,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0012613,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0012613,Rare genetic disease +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0022214,Rare skin disease +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0002083,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0002083,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0001019,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0002084,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0002081,Rare genetic disease +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0022215,Rare skin disease +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0002084,Rare skin disease +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0001019,Rare genetic disease +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0017975,Rare skin disease +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0017975,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0012613,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0022214,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0002081,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0002089,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0012474,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0012613,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0002082,Rare skin disease +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0008507,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0002081,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0022215,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0008507,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0002082,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0017975,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0002081,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0008505,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0012474,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0008505,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0022214,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0022214,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0002084,Rare genetic disease +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0012474,Rare skin disease +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0008507,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0012613,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0002082,Rare genetic disease +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0022214,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0002088,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0017975,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0022214,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0002083,Rare genetic disease +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0002083,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0002089,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0002081,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0012474,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0002088,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0012474,Rare genetic disease +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0002088,Rare skin disease +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0002082,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0008507,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0002088,Rare genetic disease +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0008507,Rare skin disease +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0008505,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0022215,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0022215,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0008486,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0002084,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0017975,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0008486,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0002088,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0022215,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0008486,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0012613,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0022215,Rare genetic disease +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0008505,Rare skin disease +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0002083,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0022215,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0002082,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0017975,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0008505,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0001019,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0002089,Rare skin disease +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0012613,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0008486,Rare skin disease +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0012613,Rare skin disease +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0002088,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0001019,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0008486,Rare genetic disease +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0002081,Rare skin disease +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0002089,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0002089,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0008486,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0002083,Rare skin disease +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0002084,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0017975,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0002081,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0001019,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0022214,Rare genetic disease +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0008507,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0008505,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0008486,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0022214,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0002083,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0002083,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0008507,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0002082,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0002084,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019905,GARD:0022215,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0012474,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0017975,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022510,GARD:0020574,GARD:0001019,Rare skin disease +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0002084,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0002082,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0002089,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0001019,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0008507,Rare genetic disease +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0012474,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0008505,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0002088,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0002089,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019904,GARD:0001019,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022531,GARD:0020574,GARD:0002084,Rare genetic disease +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0008505,Rare genetic disease +GARD:0006322,GARD:0022513,GARD:0019905,GARD:0012474,Rare developmental defect during embryogenesis +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0002089,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0002081,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022531,GARD:0019904,GARD:0002082,Rare genetic disease +GARD:0006322,GARD:0022525,GARD:0020255,GARD:0008486,Rare systemic or rheumatologic disease +GARD:0006322,GARD:0022531,GARD:0022459,GARD:0002088,Rare genetic disease +GARD:0006323,GARD:0022517,GARD:0021029,,Rare respiratory disease +GARD:0006323,GARD:0022536,GARD:0021029,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006329,GARD:0022536,GARD:0020526,GARD:0016865,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006329,GARD:0022531,GARD:0020526,GARD:0002102,Rare genetic disease +GARD:0006329,GARD:0022531,GARD:0020526,GARD:0016866,Rare genetic disease +GARD:0006329,GARD:0022531,GARD:0020526,GARD:0016865,Rare genetic disease +GARD:0006329,GARD:0022531,GARD:0020360,GARD:0002102,Rare genetic disease +GARD:0006329,GARD:0022524,GARD:0020360,GARD:0002102,Rare neurologic disease +GARD:0006329,GARD:0022531,GARD:0020360,GARD:0016865,Rare genetic disease +GARD:0006329,GARD:0022524,GARD:0020360,GARD:0016866,Rare neurologic disease +GARD:0006329,GARD:0022531,GARD:0020360,GARD:0016866,Rare genetic disease +GARD:0006329,GARD:0022515,GARD:0020526,GARD:0002102,Rare cardiac disease +GARD:0006329,GARD:0022524,GARD:0020360,GARD:0016865,Rare neurologic disease +GARD:0006329,GARD:0022515,GARD:0020526,GARD:0016866,Rare cardiac disease +GARD:0006329,GARD:0022536,GARD:0020526,GARD:0002102,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006329,GARD:0022515,GARD:0020526,GARD:0016865,Rare cardiac disease +GARD:0006329,GARD:0022536,GARD:0020526,GARD:0016866,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006332,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0006332,GARD:0022524,GARD:0019434,,Rare neurologic disease +GARD:0006332,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0006333,GARD:0022531,GARD:0020967,GARD:0020971,Rare genetic disease +GARD:0006333,GARD:0022513,GARD:0020967,GARD:0018753,Rare developmental defect during embryogenesis +GARD:0006333,GARD:0022524,GARD:0020967,GARD:0020970,Rare neurologic disease +GARD:0006333,GARD:0022513,GARD:0020967,GARD:0019951,Rare developmental defect during embryogenesis +GARD:0006333,GARD:0022524,GARD:0020967,GARD:0018753,Rare neurologic disease +GARD:0006333,GARD:0022524,GARD:0020967,GARD:0019951,Rare neurologic disease +GARD:0006333,GARD:0022531,GARD:0020967,GARD:0020969,Rare genetic disease +GARD:0006333,GARD:0022513,GARD:0020967,GARD:0020969,Rare developmental defect during embryogenesis +GARD:0006333,GARD:0022531,GARD:0020967,GARD:0019951,Rare genetic disease +GARD:0006333,GARD:0022513,GARD:0020967,GARD:0020970,Rare developmental defect during embryogenesis +GARD:0006333,GARD:0022531,GARD:0020967,GARD:0018753,Rare genetic disease +GARD:0006333,GARD:0022524,GARD:0020967,GARD:0020969,Rare neurologic disease +GARD:0006333,GARD:0022524,GARD:0020967,GARD:0020971,Rare neurologic disease +GARD:0006333,GARD:0022531,GARD:0020967,GARD:0020970,Rare genetic disease +GARD:0006333,GARD:0022513,GARD:0020967,GARD:0020971,Rare developmental defect during embryogenesis +GARD:0006336,GARD:0022536,GARD:0022065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006336,GARD:0022515,GARD:0020535,,Rare cardiac disease +GARD:0006336,GARD:0022515,GARD:0020530,,Rare cardiac disease +GARD:0006337,GARD:0022515,GARD:0020535,,Rare cardiac disease +GARD:0006337,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0006339,GARD:0022514,GARD:0020470,,Rare gynecologic or obstetric disease +GARD:0006339,GARD:0022535,GARD:0020470,,Rare neoplastic disease +GARD:0006351,GARD:0022525,GARD:0009128,,Rare systemic or rheumatologic disease +GARD:0006351,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0006351,GARD:0022524,GARD:0009128,,Rare neurologic disease +GARD:0006351,GARD:0021079,GARD:0021082,,Rare systemic or rheumatological disease of childhood +GARD:0006353,GARD:0022524,GARD:0016527,,Rare neurologic disease +GARD:0006353,GARD:0022535,GARD:0016527,,Rare neoplastic disease +GARD:0006357,GARD:0022531,GARD:0019921,GARD:0016337,Rare genetic disease +GARD:0006357,GARD:0022523,GARD:0021509,GARD:0016334,Rare immune disease +GARD:0006357,GARD:0022523,GARD:0021509,GARD:0015291,Rare immune disease +GARD:0006357,GARD:0022531,GARD:0019921,GARD:0016334,Rare genetic disease +GARD:0006357,GARD:0022535,GARD:0019921,GARD:0016334,Rare neoplastic disease +GARD:0006357,GARD:0022510,GARD:0019019,GARD:0016334,Rare skin disease +GARD:0006357,GARD:0022510,GARD:0019019,GARD:0015291,Rare skin disease +GARD:0006357,GARD:0022531,GARD:0020278,GARD:0016337,Rare genetic disease +GARD:0006357,GARD:0022531,GARD:0021509,GARD:0016337,Rare genetic disease +GARD:0006357,GARD:0022523,GARD:0021509,GARD:0016337,Rare immune disease +GARD:0006357,GARD:0022531,GARD:0021509,GARD:0016334,Rare genetic disease +GARD:0006357,GARD:0022510,GARD:0019019,GARD:0016337,Rare skin disease +GARD:0006357,GARD:0022531,GARD:0020278,GARD:0016334,Rare genetic disease +GARD:0006357,GARD:0022535,GARD:0019921,GARD:0015291,Rare neoplastic disease +GARD:0006357,GARD:0022535,GARD:0019921,GARD:0016337,Rare neoplastic disease +GARD:0006357,GARD:0022531,GARD:0021509,GARD:0015291,Rare genetic disease +GARD:0006357,GARD:0022531,GARD:0019921,GARD:0015291,Rare genetic disease +GARD:0006357,GARD:0022531,GARD:0020278,GARD:0015291,Rare genetic disease +GARD:0006360,GARD:0022510,GARD:0019028,,Rare skin disease +GARD:0006369,GARD:0022510,GARD:0008231,,Rare skin disease +GARD:0006369,GARD:0022525,GARD:0021455,,Rare systemic or rheumatologic disease +GARD:0006369,GARD:0022525,GARD:0008231,,Rare systemic or rheumatologic disease +GARD:0006377,GARD:0022531,GARD:0019928,,Rare genetic disease +GARD:0006377,GARD:0022524,GARD:0019928,,Rare neurologic disease +GARD:0006381,GARD:0022534,GARD:0019855,,Rare abdominal surgical disease +GARD:0006381,GARD:0022513,GARD:0019855,,Rare developmental defect during embryogenesis +GARD:0006383,GARD:0022516,GARD:0020213,GARD:0021741,Rare gastroenterologic disease +GARD:0006383,GARD:0022535,GARD:0020213,GARD:0016927,Rare neoplastic disease +GARD:0006383,GARD:0022516,GARD:0020213,GARD:0021742,Rare gastroenterologic disease +GARD:0006383,GARD:0022535,GARD:0020213,GARD:0021742,Rare neoplastic disease +GARD:0006383,GARD:0022516,GARD:0020213,GARD:0016927,Rare gastroenterologic disease +GARD:0006383,GARD:0022516,GARD:0020213,GARD:0018901,Rare gastroenterologic disease +GARD:0006383,GARD:0022535,GARD:0020213,GARD:0021741,Rare neoplastic disease +GARD:0006383,GARD:0022535,GARD:0020213,GARD:0018901,Rare neoplastic disease +GARD:0006386,GARD:0022524,GARD:0020416,GARD:0019221,Rare neurologic disease +GARD:0006386,GARD:0022527,GARD:0019984,GARD:0019221,Rare circulatory system disease +GARD:0006386,GARD:0022536,GARD:0022292,GARD:0019221,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006386,GARD:0022512,GARD:0022292,GARD:0019221,Rare renal disease +GARD:0006386,GARD:0021079,GARD:0021081,GARD:0019220,Rare systemic or rheumatological disease of childhood +GARD:0006386,GARD:0022525,GARD:0019984,GARD:0019220,Rare systemic or rheumatologic disease +GARD:0006386,GARD:0022524,GARD:0020416,GARD:0019220,Rare neurologic disease +GARD:0006386,GARD:0022512,GARD:0022292,GARD:0019220,Rare renal disease +GARD:0006386,GARD:0022517,GARD:0020941,GARD:0019221,Rare respiratory disease +GARD:0006386,GARD:0022527,GARD:0019984,GARD:0019220,Rare circulatory system disease +GARD:0006386,GARD:0021079,GARD:0021081,GARD:0019221,Rare systemic or rheumatological disease of childhood +GARD:0006386,GARD:0022525,GARD:0019984,GARD:0019221,Rare systemic or rheumatologic disease +GARD:0006386,GARD:0022536,GARD:0020941,GARD:0019221,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006386,GARD:0022536,GARD:0022292,GARD:0019220,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006386,GARD:0022536,GARD:0020941,GARD:0019220,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006386,GARD:0022517,GARD:0020941,GARD:0019220,Rare respiratory disease +GARD:0006389,GARD:0022522,GARD:0005870,,Rare hematologic disease +GARD:0006389,GARD:0022522,GARD:0018906,,Rare hematologic disease +GARD:0006390,GARD:0022535,GARD:0020547,,Rare neoplastic disease +GARD:0006390,GARD:0022511,GARD:0020547,,Rare bone disease +GARD:0006398,GARD:0022534,GARD:0002207,,Rare abdominal surgical disease +GARD:0006398,GARD:0022513,GARD:0002207,,Rare developmental defect during embryogenesis +GARD:0006398,GARD:0022512,GARD:0002207,,Rare renal disease +GARD:0006398,GARD:0022532,GARD:0002207,,Rare urogenital disease +GARD:0006398,GARD:0022531,GARD:0002207,,Rare genetic disease +GARD:0006398,GARD:0022536,GARD:0002207,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006400,GARD:0022531,GARD:0020273,,Rare genetic disease +GARD:0006400,GARD:0022524,GARD:0021615,,Rare neurologic disease +GARD:0006400,GARD:0022536,GARD:0020533,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006400,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006400,GARD:0022531,GARD:0022298,,Rare genetic disease +GARD:0006400,GARD:0022531,GARD:0007672,,Rare genetic disease +GARD:0006400,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0006400,GARD:0022531,GARD:0020520,,Rare genetic disease +GARD:0006400,GARD:0022508,GARD:0007672,,Rare inborn errors of metabolism +GARD:0006400,GARD:0022536,GARD:0007672,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006400,GARD:0022531,GARD:0020533,,Rare genetic disease +GARD:0006400,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0006400,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0006400,GARD:0022515,GARD:0020520,,Rare cardiac disease +GARD:0006400,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0006400,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0006400,GARD:0022513,GARD:0019900,,Rare developmental defect during embryogenesis +GARD:0006400,GARD:0022536,GARD:0020520,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006400,GARD:0022531,GARD:0021615,,Rare genetic disease +GARD:0006400,GARD:0022510,GARD:0022298,,Rare skin disease +GARD:0006400,GARD:0022531,GARD:0019900,,Rare genetic disease +GARD:0006400,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0006400,GARD:0022527,GARD:0022298,,Rare circulatory system disease +GARD:0006400,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0006400,GARD:0022515,GARD:0020533,,Rare cardiac disease +GARD:0006400,GARD:0022513,GARD:0022298,,Rare developmental defect during embryogenesis +GARD:0006404,GARD:0022522,GARD:0020121,,Rare hematologic disease +GARD:0006404,GARD:0022531,GARD:0020121,,Rare genetic disease +GARD:0006405,GARD:0022522,GARD:0020093,,Rare hematologic disease +GARD:0006406,GARD:0022524,GARD:0022440,GARD:0016107,Rare neurologic disease +GARD:0006406,GARD:0022524,GARD:0022440,GARD:0015973,Rare neurologic disease +GARD:0006406,GARD:0022524,GARD:0021261,GARD:0015973,Rare neurologic disease +GARD:0006406,GARD:0022531,GARD:0022440,GARD:0015893,Rare genetic disease +GARD:0006406,GARD:0022531,GARD:0022440,GARD:0015973,Rare genetic disease +GARD:0006406,GARD:0022531,GARD:0021284,GARD:0015973,Rare genetic disease +GARD:0006406,GARD:0022524,GARD:0019096,GARD:0016107,Rare neurologic disease +GARD:0006406,GARD:0022531,GARD:0020028,GARD:0016107,Rare genetic disease +GARD:0006406,GARD:0022524,GARD:0022440,GARD:0016384,Rare neurologic disease +GARD:0006406,GARD:0022531,GARD:0021284,GARD:0016107,Rare genetic disease +GARD:0006406,GARD:0022531,GARD:0020028,GARD:0015893,Rare genetic disease +GARD:0006406,GARD:0022531,GARD:0022440,GARD:0016107,Rare genetic disease +GARD:0006406,GARD:0022524,GARD:0019096,GARD:0015893,Rare neurologic disease +GARD:0006406,GARD:0022524,GARD:0019096,GARD:0016384,Rare neurologic disease +GARD:0006406,GARD:0022524,GARD:0021261,GARD:0015893,Rare neurologic disease +GARD:0006406,GARD:0022524,GARD:0021261,GARD:0016384,Rare neurologic disease +GARD:0006406,GARD:0022531,GARD:0020028,GARD:0016384,Rare genetic disease +GARD:0006406,GARD:0022524,GARD:0022440,GARD:0015893,Rare neurologic disease +GARD:0006406,GARD:0022524,GARD:0021261,GARD:0016107,Rare neurologic disease +GARD:0006406,GARD:0022531,GARD:0022440,GARD:0016384,Rare genetic disease +GARD:0006406,GARD:0022531,GARD:0021284,GARD:0016384,Rare genetic disease +GARD:0006406,GARD:0022531,GARD:0020028,GARD:0015973,Rare genetic disease +GARD:0006406,GARD:0022524,GARD:0019096,GARD:0015973,Rare neurologic disease +GARD:0006406,GARD:0022531,GARD:0021284,GARD:0015893,Rare genetic disease +GARD:0006408,GARD:0022531,GARD:0021548,GARD:0016912,Rare genetic disease +GARD:0006408,GARD:0022531,GARD:0021012,GARD:0016912,Rare genetic disease +GARD:0006408,GARD:0022531,GARD:0021548,GARD:0020786,Rare genetic disease +GARD:0006408,GARD:0022516,GARD:0019847,GARD:0016912,Rare gastroenterologic disease +GARD:0006408,GARD:0022535,GARD:0019847,GARD:0006482,Rare neoplastic disease +GARD:0006408,GARD:0022531,GARD:0021548,GARD:0006482,Rare genetic disease +GARD:0006408,GARD:0022531,GARD:0019847,GARD:0016912,Rare genetic disease +GARD:0006408,GARD:0022536,GARD:0019847,GARD:0016912,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006408,GARD:0022531,GARD:0019847,GARD:0020786,Rare genetic disease +GARD:0006408,GARD:0022531,GARD:0021012,GARD:0020786,Rare genetic disease +GARD:0006408,GARD:0022516,GARD:0019847,GARD:0020786,Rare gastroenterologic disease +GARD:0006408,GARD:0022516,GARD:0019847,GARD:0006482,Rare gastroenterologic disease +GARD:0006408,GARD:0022531,GARD:0021012,GARD:0006482,Rare genetic disease +GARD:0006408,GARD:0022536,GARD:0019847,GARD:0006482,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006408,GARD:0022531,GARD:0019847,GARD:0006482,Rare genetic disease +GARD:0006408,GARD:0022535,GARD:0019847,GARD:0016912,Rare neoplastic disease +GARD:0006408,GARD:0022535,GARD:0019847,GARD:0020786,Rare neoplastic disease +GARD:0006408,GARD:0022536,GARD:0019847,GARD:0020786,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006414,GARD:0022508,GARD:0020229,GARD:0012241,Rare inborn errors of metabolism +GARD:0006414,GARD:0022508,GARD:0020229,GARD:0010244,Rare inborn errors of metabolism +GARD:0006414,GARD:0022521,GARD:0020229,GARD:0017973,Rare endocrine disease +GARD:0006414,GARD:0022531,GARD:0020229,GARD:0000759,Rare genetic disease +GARD:0006414,GARD:0022521,GARD:0020229,GARD:0010244,Rare endocrine disease +GARD:0006414,GARD:0022521,GARD:0020229,GARD:0000759,Rare endocrine disease +GARD:0006414,GARD:0022531,GARD:0020229,GARD:0012241,Rare genetic disease +GARD:0006414,GARD:0022531,GARD:0020229,GARD:0017973,Rare genetic disease +GARD:0006414,GARD:0022521,GARD:0020229,GARD:0006704,Rare endocrine disease +GARD:0006414,GARD:0022521,GARD:0020229,GARD:0012241,Rare endocrine disease +GARD:0006414,GARD:0022508,GARD:0020229,GARD:0000759,Rare inborn errors of metabolism +GARD:0006414,GARD:0022508,GARD:0020229,GARD:0017973,Rare inborn errors of metabolism +GARD:0006414,GARD:0022531,GARD:0020229,GARD:0010244,Rare genetic disease +GARD:0006414,GARD:0022508,GARD:0020229,GARD:0006704,Rare inborn errors of metabolism +GARD:0006414,GARD:0022531,GARD:0020229,GARD:0006704,Rare genetic disease +GARD:0006421,GARD:0022523,GARD:0021161,GARD:0015069,Rare immune disease +GARD:0006421,GARD:0022531,GARD:0021453,GARD:0015069,Rare genetic disease +GARD:0006421,GARD:0022536,GARD:0022290,GARD:0015069,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006421,GARD:0022525,GARD:0021453,GARD:0015069,Rare systemic or rheumatologic disease +GARD:0006421,GARD:0022531,GARD:0021161,GARD:0015069,Rare genetic disease +GARD:0006421,GARD:0021079,GARD:0021453,GARD:0015069,Rare systemic or rheumatological disease of childhood +GARD:0006421,GARD:0022531,GARD:0022290,GARD:0015069,Rare genetic disease +GARD:0006421,GARD:0022512,GARD:0022290,GARD:0015069,Rare renal disease +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0016213,Rare renal disease +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0015168,Rare neoplastic disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0015324,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0015500,Rare genetic disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0015448,Rare skin disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0015324,Rare skin disease +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0015170,Rare hematologic disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0015355,Rare bone disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0016215,Rare bone disease +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0015355,Rare hematologic disease +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0015168,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0016264,Rare genetic disease +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0015753,Rare renal disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0015656,Rare skin disease +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0015170,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0015169,Rare hematologic disease +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0016213,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0015324,Rare genetic disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0015257,Rare bone disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0016215,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0015449,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0016111,Rare genetic disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0016213,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0015753,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0015448,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0015257,Rare genetic disease +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0015355,Rare neoplastic disease +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0015449,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0015934,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0015169,Rare renal disease +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0015754,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0015169,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0015753,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0015754,Rare genetic disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0015754,Rare bone disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0015355,Rare skin disease +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0015324,Rare neurologic disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0015500,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0015500,Rare bone disease +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0015934,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0015324,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0015731,Rare genetic disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0016111,Rare skin disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0016214,Rare bone disease +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0015656,Rare hematologic disease +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0015355,Rare genetic disease +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0015500,Rare neurologic disease +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0016264,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0016214,Rare renal disease +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0015324,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0015170,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0015257,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0015753,Rare genetic disease +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0015500,Rare renal disease +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0016111,Rare hematologic disease +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0015731,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0015324,Rare hematologic disease +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0015500,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0015656,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0015934,Rare skin disease +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0015754,Rare renal disease +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0016215,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0015731,Rare neurologic disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0016264,Rare bone disease +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0015753,Rare neurologic disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0015257,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0016213,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0015169,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0016215,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0015168,Rare genetic disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0016215,Rare skin disease +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0015168,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0015257,Rare neoplastic disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0015355,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0015754,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0016213,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0015500,Rare genetic disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0015753,Rare bone disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0015168,Rare genetic disease +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0015168,Rare renal disease +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0016214,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0015731,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0016214,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0016213,Rare genetic disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0016111,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0016111,Rare bone disease +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0015500,Rare hematologic disease +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0015656,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0016213,Rare neurologic disease +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0015448,Rare neurologic disease +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0015170,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0016213,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0015170,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0015754,Rare genetic disease +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0016215,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0015934,Rare bone disease +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0016264,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0015449,Rare genetic disease +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0016214,Rare neoplastic disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0015449,Rare bone disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0015500,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0015168,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0015656,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0015656,Rare genetic disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0016214,Rare skin disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0015731,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0015257,Rare renal disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0015754,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0015731,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0016111,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0015257,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0015754,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0015731,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0016213,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0015656,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0015168,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0015355,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0015168,Rare neurologic disease +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0015656,Rare neoplastic disease +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0015170,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0015355,Rare neurologic disease +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0015753,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0015448,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0015753,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0015753,Rare neoplastic disease +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0015656,Rare genetic disease +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0015753,Rare hematologic disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0015656,Rare bone disease +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0016111,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0015754,Rare neoplastic disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0015753,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0015170,Rare skin disease +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0015753,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0016214,Rare hematologic disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0015168,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0016213,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0016214,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0015169,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0015168,Rare hematologic disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0015449,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0015170,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0016215,Rare genetic disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0016264,Rare skin disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0015731,Rare skin disease +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0016214,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0016264,Rare renal disease +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0015169,Rare neoplastic disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0015656,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0015934,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0015355,Rare genetic disease +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0016111,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0015753,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0015257,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0015257,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0015934,Rare genetic disease +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0015934,Rare hematologic disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0016111,Rare genetic disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0015500,Rare skin disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0015448,Rare bone disease +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0016111,Rare renal disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0015754,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0016214,Rare genetic disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0016213,Rare bone disease +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0016214,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0015754,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0015170,Rare neurologic disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0015257,Rare skin disease +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0016264,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0015169,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0016213,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0016214,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0015449,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0015656,Rare genetic disease +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0015170,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0015449,Rare skin disease +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0015170,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0015449,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0016214,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0015168,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0015731,Rare genetic disease +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0015731,Rare neoplastic disease +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0016215,Rare renal disease +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0015257,Rare neurologic disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0016214,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0015324,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0015324,Rare genetic disease +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0015324,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0015168,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0016215,Rare genetic disease +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0015656,Rare neurologic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0016111,Rare genetic disease +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0015500,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0016215,Rare hematologic disease +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0015448,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0016264,Rare hematologic disease +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0015448,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0015934,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0015753,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0015355,Rare genetic disease +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0015169,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0016111,Rare genetic disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0015168,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0015324,Rare genetic disease +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0016214,Rare neurologic disease +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0015257,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0015731,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0015324,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0015500,Rare genetic disease +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0016215,Rare neoplastic disease +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0016264,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0015754,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0016111,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0015448,Rare genetic disease +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0016214,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0015449,Rare renal disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0015753,Rare skin disease +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0015731,Rare renal disease +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0015449,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0015169,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0015934,Rare genetic disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0015754,Rare skin disease +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0015449,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0015324,Rare genetic disease +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0015170,Rare neoplastic disease +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0015355,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0015934,Rare neurologic disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0015448,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0016264,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0015324,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0015257,Rare genetic disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0015169,Rare bone disease +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0015934,Rare renal disease +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0015448,Rare neoplastic disease +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0015324,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0015754,Rare hematologic disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0015170,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0015170,Rare renal disease +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0015934,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0016215,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0015168,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0016215,Rare neurologic disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0015169,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0015449,Rare genetic disease +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0015500,Rare neoplastic disease +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0016264,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0015500,Rare genetic disease +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0016264,Rare neoplastic disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0015168,Rare bone disease +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0015448,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0016215,Rare genetic disease +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0015934,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0015934,Rare neoplastic disease +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0016213,Rare hematologic disease +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0016264,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0015656,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0015169,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0015500,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0016111,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0015656,Rare genetic disease +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0016213,Rare neoplastic disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0016213,Rare skin disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0015753,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0015656,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0015169,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0015257,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0015449,Rare hematologic disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0015355,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0015170,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0015754,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0015257,Rare genetic disease +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0015449,Rare neurologic disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0016214,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0015257,Rare genetic disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0015170,Rare bone disease +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0015656,Rare renal disease +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0015355,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0015448,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0015500,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0016264,Rare neurologic disease +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0015934,Rare genetic disease +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0015324,Rare renal disease +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0016215,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0015169,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0015934,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0015656,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0015355,Rare genetic disease +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0015324,Rare neoplastic disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0015448,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0016215,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0016214,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0015355,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0016111,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0015448,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0015731,Rare bone disease +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0015753,Rare genetic disease +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0015448,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0015754,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0015731,Rare hematologic disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0015257,Rare genetic disease +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0015169,Rare neurologic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0015753,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0015169,Rare genetic disease +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0016111,Rare neoplastic disease +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0015448,Rare renal disease +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0016213,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0015500,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0015355,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0022441,GARD:0016264,Rare genetic disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0016264,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022535,GARD:0020259,GARD:0015449,Rare neoplastic disease +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0016213,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0015448,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0021186,GARD:0016215,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0015448,Rare hematologic disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0016264,Rare genetic disease +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0016111,Rare neurologic disease +GARD:0006425,GARD:0022524,GARD:0019832,GARD:0015754,Rare neurologic disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0015449,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020259,GARD:0015731,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0016264,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021507,GARD:0015449,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0016111,Rare genetic disease +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0015169,Rare skin disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0015731,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0015170,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0016213,Rare genetic disease +GARD:0006425,GARD:0022511,GARD:0021186,GARD:0015324,Rare bone disease +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0015170,Rare genetic disease +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0015934,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022522,GARD:0018889,GARD:0015257,Rare hematologic disease +GARD:0006425,GARD:0022536,GARD:0018889,GARD:0015449,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0015169,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022513,GARD:0019833,GARD:0015355,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0015731,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0021727,GARD:0016215,Rare genetic disease +GARD:0006425,GARD:0022531,GARD:0019231,GARD:0015731,Rare genetic disease +GARD:0006425,GARD:0022536,GARD:0022061,GARD:0015168,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006425,GARD:0022510,GARD:0019004,GARD:0015168,Rare skin disease +GARD:0006425,GARD:0022513,GARD:0019832,GARD:0015934,Rare developmental defect during embryogenesis +GARD:0006425,GARD:0022531,GARD:0020270,GARD:0015500,Rare genetic disease +GARD:0006425,GARD:0022512,GARD:0019231,GARD:0015355,Rare renal disease +GARD:0006425,GARD:0022531,GARD:0018889,GARD:0015754,Rare genetic disease +GARD:0006426,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0006426,GARD:0022531,GARD:0021615,,Rare genetic disease +GARD:0006426,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0006426,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0006426,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0006426,GARD:0022531,GARD:0007672,,Rare genetic disease +GARD:0006426,GARD:0022508,GARD:0007672,,Rare inborn errors of metabolism +GARD:0006426,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0006426,GARD:0022524,GARD:0021615,,Rare neurologic disease +GARD:0006426,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0006426,GARD:0022536,GARD:0007672,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006426,GARD:0022531,GARD:0020275,,Rare genetic disease +GARD:0006426,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0006427,GARD:0022530,GARD:0019704,,Rare allergic disease +GARD:0006427,GARD:0022517,GARD:0019704,,Rare respiratory disease +GARD:0006427,GARD:0022536,GARD:0019704,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006429,GARD:0022524,GARD:0021085,,Rare neurologic disease +GARD:0006429,GARD:0022531,GARD:0021085,,Rare genetic disease +GARD:0006435,GARD:0022533,GARD:0021594,,Rare disorder due to toxic effects +GARD:0006435,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0006435,GARD:0022513,GARD:0021594,,Rare developmental defect during embryogenesis +GARD:0006435,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0006435,GARD:0022505,GARD:0021594,,Rare teratologic disease +GARD:0006435,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0006444,GARD:0022513,GARD:0022384,GARD:0019181,Rare developmental defect during embryogenesis +GARD:0006444,GARD:0022513,GARD:0022384,GARD:0004213,Rare developmental defect during embryogenesis +GARD:0006444,GARD:0022531,GARD:0022384,GARD:0004213,Rare genetic disease +GARD:0006444,GARD:0022511,GARD:0022384,GARD:0019181,Rare bone disease +GARD:0006444,GARD:0022531,GARD:0022384,GARD:0019181,Rare genetic disease +GARD:0006444,GARD:0022511,GARD:0022384,GARD:0004213,Rare bone disease +GARD:0006445,GARD:0022511,GARD:0021568,,Rare bone disease +GARD:0006445,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0006445,GARD:0022531,GARD:0020275,,Rare genetic disease +GARD:0006445,GARD:0022513,GARD:0021568,,Rare developmental defect during embryogenesis +GARD:0006445,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0006445,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0006445,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0006445,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0006445,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0006445,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0006445,GARD:0022531,GARD:0021568,,Rare genetic disease +GARD:0006447,GARD:0022508,GARD:0018937,,Rare inborn errors of metabolism +GARD:0006447,GARD:0022531,GARD:0018937,,Rare genetic disease +GARD:0006450,GARD:0022508,GARD:0016539,,Rare inborn errors of metabolism +GARD:0006450,GARD:0022531,GARD:0016539,,Rare genetic disease +GARD:0006450,GARD:0022536,GARD:0016539,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006450,GARD:0022521,GARD:0016539,,Rare endocrine disease +GARD:0006450,GARD:0022520,GARD:0016539,,Rare ophthalmic disorder +GARD:0006450,GARD:0022512,GARD:0016539,,Rare renal disease +GARD:0006455,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0006455,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0006455,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0006455,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0006455,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0006457,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0006457,GARD:0022531,GARD:0020274,,Rare genetic disease +GARD:0006457,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0006457,GARD:0022520,GARD:0022092,,Rare ophthalmic disorder +GARD:0006457,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0006457,GARD:0022513,GARD:0019536,,Rare developmental defect during embryogenesis +GARD:0006457,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0006457,GARD:0022531,GARD:0022173,,Rare genetic disease +GARD:0006457,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0006457,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0006457,GARD:0022513,GARD:0022092,,Rare developmental defect during embryogenesis +GARD:0006457,GARD:0022510,GARD:0019009,,Rare skin disease +GARD:0006457,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0006457,GARD:0022520,GARD:0019536,,Rare ophthalmic disorder +GARD:0006457,GARD:0022531,GARD:0019536,,Rare genetic disease +GARD:0006457,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0006464,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0006464,GARD:0022531,GARD:0021279,,Rare genetic disease +GARD:0006464,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0006464,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0006464,GARD:0022531,GARD:0010248,,Rare genetic disease +GARD:0006464,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0006464,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0006464,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0006464,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0006464,GARD:0022524,GARD:0021279,,Rare neurologic disease +GARD:0006464,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0006464,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0006464,GARD:0022524,GARD:0010248,,Rare neurologic disease +GARD:0006464,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0006465,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0006465,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0006465,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006465,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0006465,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0006465,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0006465,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0006465,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0006465,GARD:0022520,GARD:0010505,,Rare ophthalmic disorder +GARD:0006465,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0006465,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006465,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0006465,GARD:0022531,GARD:0010505,,Rare genetic disease +GARD:0006465,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0006465,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0006465,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0006465,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0006465,GARD:0022513,GARD:0010505,,Rare developmental defect during embryogenesis +GARD:0006465,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0006466,GARD:0022513,GARD:0019833,GARD:0010024,Rare developmental defect during embryogenesis +GARD:0006466,GARD:0022513,GARD:0000786,GARD:0010024,Rare developmental defect during embryogenesis +GARD:0006466,GARD:0022531,GARD:0019563,GARD:0010024,Rare genetic disease +GARD:0006466,GARD:0022513,GARD:0000786,GARD:0018622,Rare developmental defect during embryogenesis +GARD:0006466,GARD:0022531,GARD:0019563,GARD:0018622,Rare genetic disease +GARD:0006466,GARD:0022513,GARD:0019833,GARD:0018622,Rare developmental defect during embryogenesis +GARD:0006466,GARD:0022531,GARD:0000786,GARD:0010024,Rare genetic disease +GARD:0006466,GARD:0022524,GARD:0019563,GARD:0010024,Rare neurologic disease +GARD:0006466,GARD:0022531,GARD:0000786,GARD:0018622,Rare genetic disease +GARD:0006466,GARD:0022531,GARD:0021507,GARD:0018622,Rare genetic disease +GARD:0006466,GARD:0022524,GARD:0019563,GARD:0018622,Rare neurologic disease +GARD:0006466,GARD:0022531,GARD:0021507,GARD:0010024,Rare genetic disease +GARD:0006468,GARD:0022531,GARD:0018890,GARD:0015340,Rare genetic disease +GARD:0006468,GARD:0022524,GARD:0018890,GARD:0015340,Rare neurologic disease +GARD:0006468,GARD:0022524,GARD:0019415,GARD:0015340,Rare neurologic disease +GARD:0006468,GARD:0022531,GARD:0020385,GARD:0015340,Rare genetic disease +GARD:0006468,GARD:0022531,GARD:0020523,GARD:0015340,Rare genetic disease +GARD:0006468,GARD:0022515,GARD:0020523,GARD:0015340,Rare cardiac disease +GARD:0006468,GARD:0022520,GARD:0022115,GARD:0015340,Rare ophthalmic disorder +GARD:0006468,GARD:0022531,GARD:0019415,GARD:0015340,Rare genetic disease +GARD:0006468,GARD:0022536,GARD:0020523,GARD:0015340,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006468,GARD:0022524,GARD:0020385,GARD:0015340,Rare neurologic disease +GARD:0006468,GARD:0022531,GARD:0022150,GARD:0015340,Rare genetic disease +GARD:0006471,GARD:0022508,GARD:0021307,,Rare inborn errors of metabolism +GARD:0006471,GARD:0022531,GARD:0021307,,Rare genetic disease +GARD:0006473,GARD:0022531,GARD:0020520,,Rare genetic disease +GARD:0006473,GARD:0022508,GARD:0018977,,Rare inborn errors of metabolism +GARD:0006473,GARD:0022511,GARD:0019203,,Rare bone disease +GARD:0006473,GARD:0022515,GARD:0020520,,Rare cardiac disease +GARD:0006473,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0006473,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0006473,GARD:0022531,GARD:0018977,,Rare genetic disease +GARD:0006473,GARD:0022536,GARD:0020520,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006473,GARD:0022531,GARD:0019203,,Rare genetic disease +GARD:0006475,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0006475,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0006475,GARD:0022513,GARD:0012782,,Rare developmental defect during embryogenesis +GARD:0006475,GARD:0022531,GARD:0021340,,Rare genetic disease +GARD:0006475,GARD:0022531,GARD:0020404,,Rare genetic disease +GARD:0006475,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0006475,GARD:0022508,GARD:0021340,,Rare inborn errors of metabolism +GARD:0006475,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0006475,GARD:0022513,GARD:0012588,,Rare developmental defect during embryogenesis +GARD:0006475,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0006475,GARD:0022531,GARD:0012782,,Rare genetic disease +GARD:0006475,GARD:0022524,GARD:0012588,,Rare neurologic disease +GARD:0006475,GARD:0022531,GARD:0012588,,Rare genetic disease +GARD:0006475,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0006475,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0006475,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0006476,GARD:0022524,GARD:0020556,,Rare neurologic disease +GARD:0006476,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0006476,GARD:0022531,GARD:0020556,,Rare genetic disease +GARD:0006476,GARD:0022524,GARD:0020555,,Rare neurologic disease +GARD:0006476,GARD:0022531,GARD:0020753,,Rare genetic disease +GARD:0006476,GARD:0022531,GARD:0020555,,Rare genetic disease +GARD:0006476,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0006476,GARD:0022508,GARD:0020753,,Rare inborn errors of metabolism +GARD:0006479,GARD:0022511,GARD:0010891,,Rare bone disease +GARD:0006479,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0006479,GARD:0022531,GARD:0022150,,Rare genetic disease +GARD:0006479,GARD:0022520,GARD:0022115,,Rare ophthalmic disorder +GARD:0006479,GARD:0022536,GARD:0010891,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006479,GARD:0022524,GARD:0010891,,Rare neurologic disease +GARD:0006479,GARD:0022531,GARD:0010891,,Rare genetic disease +GARD:0006479,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0006479,GARD:0022508,GARD:0010891,,Rare inborn errors of metabolism +GARD:0006481,GARD:0022510,GARD:0021400,,Rare skin disease +GARD:0006482,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0006482,GARD:0022531,GARD:0006408,,Rare genetic disease +GARD:0006482,GARD:0022535,GARD:0006408,,Rare neoplastic disease +GARD:0006482,GARD:0022536,GARD:0006408,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006482,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0006482,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0006482,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0006482,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0006482,GARD:0022516,GARD:0006408,,Rare gastroenterologic disease +GARD:0006482,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0006482,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0006485,GARD:0022535,GARD:0013237,,Rare neoplastic disease +GARD:0006485,GARD:0022522,GARD:0013237,,Rare hematologic disease +GARD:0006485,GARD:0022536,GARD:0013237,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006497,GARD:0022510,GARD:0019028,,Rare skin disease +GARD:0006498,GARD:0022535,GARD:0020748,GARD:0019712,Rare neoplastic disease +GARD:0006498,GARD:0022514,GARD:0020748,GARD:0020750,Rare gynecologic or obstetric disease +GARD:0006498,GARD:0022514,GARD:0020748,GARD:0019712,Rare gynecologic or obstetric disease +GARD:0006498,GARD:0022535,GARD:0020748,GARD:0019711,Rare neoplastic disease +GARD:0006498,GARD:0022514,GARD:0020748,GARD:0007403,Rare gynecologic or obstetric disease +GARD:0006498,GARD:0022535,GARD:0020748,GARD:0007403,Rare neoplastic disease +GARD:0006498,GARD:0022514,GARD:0020748,GARD:0019711,Rare gynecologic or obstetric disease +GARD:0006498,GARD:0022535,GARD:0020748,GARD:0020750,Rare neoplastic disease +GARD:0006500,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0006500,GARD:0022524,GARD:0010711,,Rare neurologic disease +GARD:0006500,GARD:0022531,GARD:0010711,,Rare genetic disease +GARD:0006500,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0006506,GARD:0022521,GARD:0016850,,Rare endocrine disease +GARD:0006506,GARD:0022535,GARD:0016850,,Rare neoplastic disease +GARD:0006509,GARD:0022526,GARD:0016582,,Rare odontologic disease +GARD:0006509,GARD:0022531,GARD:0016582,,Rare genetic disease +GARD:0006513,GARD:0022535,GARD:0020703,GARD:0012928,Rare neoplastic disease +GARD:0006513,GARD:0022535,GARD:0020703,GARD:0016527,Rare neoplastic disease +GARD:0006513,GARD:0022535,GARD:0020703,GARD:0020713,Rare neoplastic disease +GARD:0006513,GARD:0022535,GARD:0020703,GARD:0020712,Rare neoplastic disease +GARD:0006513,GARD:0022524,GARD:0020703,GARD:0016527,Rare neurologic disease +GARD:0006513,GARD:0022524,GARD:0020703,GARD:0012928,Rare neurologic disease +GARD:0006513,GARD:0022524,GARD:0020703,GARD:0020712,Rare neurologic disease +GARD:0006513,GARD:0022524,GARD:0020703,GARD:0020713,Rare neurologic disease +GARD:0006513,GARD:0022535,GARD:0020703,GARD:0013156,Rare neoplastic disease +GARD:0006513,GARD:0022524,GARD:0020703,GARD:0013156,Rare neurologic disease +GARD:0006514,GARD:0022535,GARD:0020704,,Rare neoplastic disease +GARD:0006514,GARD:0022524,GARD:0020704,,Rare neurologic disease +GARD:0006519,GARD:0022524,GARD:0020542,,Rare neurologic disease +GARD:0006520,GARD:0022522,GARD:0019460,,Rare hematologic disease +GARD:0006520,GARD:0022531,GARD:0019460,,Rare genetic disease +GARD:0006521,GARD:0022531,GARD:0019841,,Rare genetic disease +GARD:0006521,GARD:0022536,GARD:0019841,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006521,GARD:0022516,GARD:0019841,,Rare gastroenterologic disease +GARD:0006521,GARD:0022508,GARD:0018957,,Rare inborn errors of metabolism +GARD:0006521,GARD:0022531,GARD:0018957,,Rare genetic disease +GARD:0006522,GARD:0022508,GARD:0018945,,Rare inborn errors of metabolism +GARD:0006522,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0006522,GARD:0022531,GARD:0018945,,Rare genetic disease +GARD:0006522,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0006523,GARD:0022531,GARD:0020369,GARD:0017626,Rare genetic disease +GARD:0006523,GARD:0022508,GARD:0021318,GARD:0017627,Rare inborn errors of metabolism +GARD:0006523,GARD:0022515,GARD:0020522,GARD:0017627,Rare cardiac disease +GARD:0006523,GARD:0022531,GARD:0020522,GARD:0017627,Rare genetic disease +GARD:0006523,GARD:0022524,GARD:0020369,GARD:0017627,Rare neurologic disease +GARD:0006523,GARD:0022508,GARD:0021318,GARD:0017626,Rare inborn errors of metabolism +GARD:0006523,GARD:0022531,GARD:0020369,GARD:0017627,Rare genetic disease +GARD:0006523,GARD:0022536,GARD:0020522,GARD:0017627,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006523,GARD:0022531,GARD:0021318,GARD:0017627,Rare genetic disease +GARD:0006523,GARD:0022515,GARD:0020522,GARD:0017626,Rare cardiac disease +GARD:0006523,GARD:0022524,GARD:0020369,GARD:0017626,Rare neurologic disease +GARD:0006523,GARD:0022531,GARD:0021318,GARD:0017626,Rare genetic disease +GARD:0006523,GARD:0022531,GARD:0020522,GARD:0017626,Rare genetic disease +GARD:0006523,GARD:0022536,GARD:0020522,GARD:0017626,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006528,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0006528,GARD:0022524,GARD:0020370,,Rare neurologic disease +GARD:0006528,GARD:0022531,GARD:0020370,,Rare genetic disease +GARD:0006528,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0006529,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0006529,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0006529,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0006529,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0006542,GARD:0022511,GARD:0020629,,Rare bone disease +GARD:0006542,GARD:0021079,GARD:0021997,,Rare systemic or rheumatological disease of childhood +GARD:0006542,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0006542,GARD:0022525,GARD:0020257,,Rare systemic or rheumatologic disease +GARD:0006542,GARD:0022527,GARD:0009789,,Rare circulatory system disease +GARD:0006542,GARD:0022531,GARD:0020629,,Rare genetic disease +GARD:0006542,GARD:0022513,GARD:0009789,,Rare developmental defect during embryogenesis +GARD:0006542,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0006542,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0006543,GARD:0022510,GARD:0019017,,Rare skin disease +GARD:0006543,GARD:0022531,GARD:0019017,,Rare genetic disease +GARD:0006544,GARD:0022536,GARD:0016642,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006544,GARD:0022523,GARD:0016642,,Rare immune disease +GARD:0006550,GARD:0022531,GARD:0021544,,Rare genetic disease +GARD:0006550,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0006550,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0006550,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0006550,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0006550,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0006550,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0006554,GARD:0022524,GARD:0020239,GARD:0020611,Rare neurologic disease +GARD:0006554,GARD:0022524,GARD:0020386,GARD:0016873,Rare neurologic disease +GARD:0006554,GARD:0022524,GARD:0020386,GARD:0019601,Rare neurologic disease +GARD:0006554,GARD:0022524,GARD:0020386,GARD:0019602,Rare neurologic disease +GARD:0006554,GARD:0022524,GARD:0020239,GARD:0016873,Rare neurologic disease +GARD:0006554,GARD:0022524,GARD:0020239,GARD:0019602,Rare neurologic disease +GARD:0006554,GARD:0022524,GARD:0020386,GARD:0020611,Rare neurologic disease +GARD:0006554,GARD:0022524,GARD:0020239,GARD:0019601,Rare neurologic disease +GARD:0006556,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0006556,GARD:0022508,GARD:0021158,,Rare inborn errors of metabolism +GARD:0006556,GARD:0022531,GARD:0021158,,Rare genetic disease +GARD:0006556,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0006556,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0006556,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0006558,GARD:0022531,GARD:0020677,,Rare genetic disease +GARD:0006558,GARD:0022522,GARD:0020677,,Rare hematologic disease +GARD:0006559,GARD:0022531,GARD:0020260,,Rare genetic disease +GARD:0006559,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0006560,GARD:0022536,GARD:0021244,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006560,GARD:0022535,GARD:0021244,,Rare neoplastic disease +GARD:0006560,GARD:0022522,GARD:0021244,,Rare hematologic disease +GARD:0006564,GARD:0022531,GARD:0022108,GARD:0017115,Rare genetic disease +GARD:0006564,GARD:0022508,GARD:0021352,GARD:0017114,Rare inborn errors of metabolism +GARD:0006564,GARD:0022531,GARD:0011899,GARD:0017115,Rare genetic disease +GARD:0006564,GARD:0022508,GARD:0021517,GARD:0017114,Rare inborn errors of metabolism +GARD:0006564,GARD:0022531,GARD:0010902,GARD:0017115,Rare genetic disease +GARD:0006564,GARD:0022531,GARD:0021352,GARD:0017115,Rare genetic disease +GARD:0006564,GARD:0022531,GARD:0021352,GARD:0017114,Rare genetic disease +GARD:0006564,GARD:0022520,GARD:0022108,GARD:0017115,Rare ophthalmic disorder +GARD:0006564,GARD:0022524,GARD:0011899,GARD:0017114,Rare neurologic disease +GARD:0006564,GARD:0022531,GARD:0021517,GARD:0017114,Rare genetic disease +GARD:0006564,GARD:0022531,GARD:0021517,GARD:0017115,Rare genetic disease +GARD:0006564,GARD:0022524,GARD:0010902,GARD:0017114,Rare neurologic disease +GARD:0006564,GARD:0022524,GARD:0011899,GARD:0017115,Rare neurologic disease +GARD:0006564,GARD:0022531,GARD:0022108,GARD:0017114,Rare genetic disease +GARD:0006564,GARD:0022531,GARD:0010902,GARD:0017114,Rare genetic disease +GARD:0006564,GARD:0022531,GARD:0011899,GARD:0017114,Rare genetic disease +GARD:0006564,GARD:0022508,GARD:0021352,GARD:0017115,Rare inborn errors of metabolism +GARD:0006564,GARD:0022524,GARD:0010902,GARD:0017115,Rare neurologic disease +GARD:0006564,GARD:0022508,GARD:0021517,GARD:0017115,Rare inborn errors of metabolism +GARD:0006564,GARD:0022520,GARD:0022108,GARD:0017114,Rare ophthalmic disorder +GARD:0006568,GARD:0022531,GARD:0021106,,Rare genetic disease +GARD:0006568,GARD:0022513,GARD:0021106,,Rare developmental defect during embryogenesis +GARD:0006568,GARD:0022510,GARD:0021106,,Rare skin disease +GARD:0006568,GARD:0022520,GARD:0021106,,Rare ophthalmic disorder +GARD:0006569,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0006569,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0006569,GARD:0022531,GARD:0020277,,Rare genetic disease +GARD:0006569,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0006569,GARD:0022531,GARD:0021305,,Rare genetic disease +GARD:0006569,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0006569,GARD:0022510,GARD:0019018,,Rare skin disease +GARD:0006569,GARD:0022508,GARD:0021305,,Rare inborn errors of metabolism +GARD:0006571,GARD:0022531,GARD:0006317,GARD:0000696,Rare genetic disease +GARD:0006571,GARD:0022513,GARD:0006317,GARD:0000697,Rare developmental defect during embryogenesis +GARD:0006571,GARD:0022531,GARD:0006317,GARD:0000697,Rare genetic disease +GARD:0006571,GARD:0022531,GARD:0019499,GARD:0000696,Rare genetic disease +GARD:0006571,GARD:0022531,GARD:0019998,GARD:0000696,Rare genetic disease +GARD:0006571,GARD:0022510,GARD:0006317,GARD:0000697,Rare skin disease +GARD:0006571,GARD:0022531,GARD:0019998,GARD:0000697,Rare genetic disease +GARD:0006571,GARD:0022513,GARD:0019499,GARD:0000697,Rare developmental defect during embryogenesis +GARD:0006571,GARD:0022513,GARD:0021186,GARD:0000697,Rare developmental defect during embryogenesis +GARD:0006571,GARD:0022510,GARD:0006317,GARD:0000696,Rare skin disease +GARD:0006571,GARD:0022520,GARD:0019499,GARD:0000696,Rare ophthalmic disorder +GARD:0006571,GARD:0022511,GARD:0021186,GARD:0000697,Rare bone disease +GARD:0006571,GARD:0022511,GARD:0021186,GARD:0000696,Rare bone disease +GARD:0006571,GARD:0022513,GARD:0006317,GARD:0000696,Rare developmental defect during embryogenesis +GARD:0006571,GARD:0022513,GARD:0019499,GARD:0000696,Rare developmental defect during embryogenesis +GARD:0006571,GARD:0022507,GARD:0019998,GARD:0000697,Rare maxillo-facial surgical disease +GARD:0006571,GARD:0022531,GARD:0021727,GARD:0000697,Rare genetic disease +GARD:0006571,GARD:0022528,GARD:0019998,GARD:0000697,Rare otorhinolaryngologic disease +GARD:0006571,GARD:0022513,GARD:0021186,GARD:0000696,Rare developmental defect during embryogenesis +GARD:0006571,GARD:0022528,GARD:0019998,GARD:0000696,Rare otorhinolaryngologic disease +GARD:0006571,GARD:0022507,GARD:0019998,GARD:0000696,Rare maxillo-facial surgical disease +GARD:0006571,GARD:0022513,GARD:0019998,GARD:0000696,Rare developmental defect during embryogenesis +GARD:0006571,GARD:0022513,GARD:0019998,GARD:0000697,Rare developmental defect during embryogenesis +GARD:0006571,GARD:0022531,GARD:0021727,GARD:0000696,Rare genetic disease +GARD:0006571,GARD:0022531,GARD:0019499,GARD:0000697,Rare genetic disease +GARD:0006571,GARD:0022520,GARD:0019499,GARD:0000697,Rare ophthalmic disorder +GARD:0006584,GARD:0022531,GARD:0012459,,Rare genetic disease +GARD:0006584,GARD:0022522,GARD:0012459,,Rare hematologic disease +GARD:0006584,GARD:0022536,GARD:0012459,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006588,GARD:0022536,GARD:0022234,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006588,GARD:0022522,GARD:0022234,,Rare hematologic disease +GARD:0006588,GARD:0022512,GARD:0022234,,Rare renal disease +GARD:0006589,GARD:0022523,GARD:0020025,GARD:0009928,Rare immune disease +GARD:0006589,GARD:0022523,GARD:0020025,GARD:0016400,Rare immune disease +GARD:0006589,GARD:0022524,GARD:0019818,GARD:0015614,Rare neurologic disease +GARD:0006589,GARD:0022524,GARD:0019818,GARD:0009929,Rare neurologic disease +GARD:0006589,GARD:0022531,GARD:0020025,GARD:0009929,Rare genetic disease +GARD:0006589,GARD:0022536,GARD:0020025,GARD:0015614,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006589,GARD:0022536,GARD:0020025,GARD:0009928,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006589,GARD:0022523,GARD:0020025,GARD:0009929,Rare immune disease +GARD:0006589,GARD:0022531,GARD:0020025,GARD:0009922,Rare genetic disease +GARD:0006589,GARD:0022536,GARD:0020025,GARD:0009929,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006589,GARD:0022524,GARD:0019818,GARD:0016400,Rare neurologic disease +GARD:0006589,GARD:0022531,GARD:0020025,GARD:0016400,Rare genetic disease +GARD:0006589,GARD:0022524,GARD:0019818,GARD:0009928,Rare neurologic disease +GARD:0006589,GARD:0022536,GARD:0020025,GARD:0009922,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006589,GARD:0022536,GARD:0020025,GARD:0016400,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006589,GARD:0022531,GARD:0020025,GARD:0009928,Rare genetic disease +GARD:0006589,GARD:0022523,GARD:0020025,GARD:0015614,Rare immune disease +GARD:0006589,GARD:0022531,GARD:0020025,GARD:0015614,Rare genetic disease +GARD:0006589,GARD:0022523,GARD:0020025,GARD:0009922,Rare immune disease +GARD:0006589,GARD:0022524,GARD:0019818,GARD:0009922,Rare neurologic disease +GARD:0006591,GARD:0022531,GARD:0010418,GARD:0017076,Rare genetic disease +GARD:0006591,GARD:0022531,GARD:0010418,GARD:0017061,Rare genetic disease +GARD:0006591,GARD:0022522,GARD:0010418,GARD:0017061,Rare hematologic disease +GARD:0006591,GARD:0022522,GARD:0010418,GARD:0017060,Rare hematologic disease +GARD:0006591,GARD:0022531,GARD:0010418,GARD:0017059,Rare genetic disease +GARD:0006591,GARD:0022522,GARD:0010418,GARD:0017059,Rare hematologic disease +GARD:0006591,GARD:0022522,GARD:0010418,GARD:0017076,Rare hematologic disease +GARD:0006591,GARD:0022531,GARD:0010418,GARD:0017060,Rare genetic disease +GARD:0006594,GARD:0022535,GARD:0009319,,Rare neoplastic disease +GARD:0006594,GARD:0022522,GARD:0009319,,Rare hematologic disease +GARD:0006594,GARD:0022536,GARD:0009319,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006594,GARD:0022522,GARD:0020681,,Rare hematologic disease +GARD:0006608,GARD:0022535,GARD:0016773,,Rare neoplastic disease +GARD:0006608,GARD:0022506,GARD:0016773,,Rare hepatic disease +GARD:0006608,GARD:0022536,GARD:0016773,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006611,GARD:0022531,GARD:0021018,GARD:0002339,Rare genetic disease +GARD:0006611,GARD:0022531,GARD:0021018,GARD:0021017,Rare genetic disease +GARD:0006611,GARD:0022531,GARD:0021018,GARD:0017741,Rare genetic disease +GARD:0006611,GARD:0022531,GARD:0021018,GARD:0010266,Rare genetic disease +GARD:0006611,GARD:0022531,GARD:0021018,GARD:0008282,Rare genetic disease +GARD:0006611,GARD:0022531,GARD:0021018,GARD:0021382,Rare genetic disease +GARD:0006618,GARD:0022508,GARD:0004938,,Rare inborn errors of metabolism +GARD:0006618,GARD:0022520,GARD:0004938,,Rare ophthalmic disorder +GARD:0006618,GARD:0022531,GARD:0004938,,Rare genetic disease +GARD:0006618,GARD:0022524,GARD:0004938,,Rare neurologic disease +GARD:0006619,GARD:0022531,GARD:0019255,,Rare genetic disease +GARD:0006619,GARD:0022512,GARD:0019255,,Rare renal disease +GARD:0006619,GARD:0022506,GARD:0019255,,Rare hepatic disease +GARD:0006619,GARD:0022508,GARD:0019255,,Rare inborn errors of metabolism +GARD:0006619,GARD:0022510,GARD:0019255,,Rare skin disease +GARD:0006619,GARD:0022524,GARD:0019255,,Rare neurologic disease +GARD:0006621,GARD:0022531,GARD:0019455,GARD:0015064,Rare genetic disease +GARD:0006621,GARD:0022522,GARD:0019455,GARD:0015179,Rare hematologic disease +GARD:0006621,GARD:0022522,GARD:0019455,GARD:0015528,Rare hematologic disease +GARD:0006621,GARD:0022531,GARD:0019455,GARD:0016273,Rare genetic disease +GARD:0006621,GARD:0022522,GARD:0019455,GARD:0016273,Rare hematologic disease +GARD:0006621,GARD:0022531,GARD:0019455,GARD:0015528,Rare genetic disease +GARD:0006621,GARD:0022522,GARD:0019455,GARD:0015064,Rare hematologic disease +GARD:0006621,GARD:0022531,GARD:0019455,GARD:0015179,Rare genetic disease +GARD:0006622,GARD:0022531,GARD:0019841,,Rare genetic disease +GARD:0006622,GARD:0022536,GARD:0019841,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006622,GARD:0022508,GARD:0021307,,Rare inborn errors of metabolism +GARD:0006622,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0006622,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006622,GARD:0022516,GARD:0019841,,Rare gastroenterologic disease +GARD:0006622,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0006622,GARD:0022508,GARD:0021313,,Rare inborn errors of metabolism +GARD:0006622,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0006622,GARD:0022531,GARD:0021313,,Rare genetic disease +GARD:0006622,GARD:0022531,GARD:0021307,,Rare genetic disease +GARD:0006622,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0006626,GARD:0022517,GARD:0020249,GARD:0009902,Rare respiratory disease +GARD:0006626,GARD:0022524,GARD:0019819,GARD:0009901,Rare neurologic disease +GARD:0006626,GARD:0022531,GARD:0020311,GARD:0009901,Rare genetic disease +GARD:0006626,GARD:0022524,GARD:0019819,GARD:0010615,Rare neurologic disease +GARD:0006626,GARD:0022513,GARD:0019431,GARD:0015978,Rare developmental defect during embryogenesis +GARD:0006626,GARD:0022513,GARD:0020461,GARD:0010615,Rare developmental defect during embryogenesis +GARD:0006626,GARD:0022513,GARD:0019431,GARD:0009902,Rare developmental defect during embryogenesis +GARD:0006626,GARD:0022513,GARD:0020461,GARD:0009902,Rare developmental defect during embryogenesis +GARD:0006626,GARD:0022520,GARD:0019513,GARD:0010615,Rare ophthalmic disorder +GARD:0006626,GARD:0022513,GARD:0019904,GARD:0009901,Rare developmental defect during embryogenesis +GARD:0006626,GARD:0022520,GARD:0019513,GARD:0009902,Rare ophthalmic disorder +GARD:0006626,GARD:0022510,GARD:0019008,GARD:0009901,Rare skin disease +GARD:0006626,GARD:0022525,GARD:0020255,GARD:0009901,Rare systemic or rheumatologic disease +GARD:0006626,GARD:0022531,GARD:0021614,GARD:0010615,Rare genetic disease +GARD:0006626,GARD:0022517,GARD:0020249,GARD:0015978,Rare respiratory disease +GARD:0006626,GARD:0022517,GARD:0020249,GARD:0009901,Rare respiratory disease +GARD:0006626,GARD:0022513,GARD:0019904,GARD:0015978,Rare developmental defect during embryogenesis +GARD:0006626,GARD:0022520,GARD:0019513,GARD:0009901,Rare ophthalmic disorder +GARD:0006626,GARD:0022524,GARD:0019819,GARD:0009902,Rare neurologic disease +GARD:0006626,GARD:0022531,GARD:0019904,GARD:0015978,Rare genetic disease +GARD:0006626,GARD:0022531,GARD:0020273,GARD:0009901,Rare genetic disease +GARD:0006626,GARD:0022527,GARD:0020461,GARD:0010615,Rare circulatory system disease +GARD:0006626,GARD:0022531,GARD:0020273,GARD:0010615,Rare genetic disease +GARD:0006626,GARD:0022525,GARD:0020255,GARD:0009902,Rare systemic or rheumatologic disease +GARD:0006626,GARD:0022531,GARD:0021614,GARD:0015978,Rare genetic disease +GARD:0006626,GARD:0022506,GARD:0019788,GARD:0009902,Rare hepatic disease +GARD:0006626,GARD:0022531,GARD:0019431,GARD:0010615,Rare genetic disease +GARD:0006626,GARD:0022513,GARD:0019904,GARD:0010615,Rare developmental defect during embryogenesis +GARD:0006626,GARD:0022513,GARD:0020461,GARD:0015978,Rare developmental defect during embryogenesis +GARD:0006626,GARD:0022525,GARD:0020255,GARD:0010615,Rare systemic or rheumatologic disease +GARD:0006626,GARD:0022510,GARD:0019008,GARD:0009902,Rare skin disease +GARD:0006626,GARD:0022517,GARD:0020249,GARD:0010615,Rare respiratory disease +GARD:0006626,GARD:0022531,GARD:0019431,GARD:0015978,Rare genetic disease +GARD:0006626,GARD:0022525,GARD:0020255,GARD:0015978,Rare systemic or rheumatologic disease +GARD:0006626,GARD:0022531,GARD:0021921,GARD:0009902,Rare genetic disease +GARD:0006626,GARD:0022527,GARD:0020461,GARD:0009902,Rare circulatory system disease +GARD:0006626,GARD:0022506,GARD:0019788,GARD:0010615,Rare hepatic disease +GARD:0006626,GARD:0022506,GARD:0019788,GARD:0009901,Rare hepatic disease +GARD:0006626,GARD:0022524,GARD:0019819,GARD:0015978,Rare neurologic disease +GARD:0006626,GARD:0022531,GARD:0020311,GARD:0015978,Rare genetic disease +GARD:0006626,GARD:0022531,GARD:0020273,GARD:0015978,Rare genetic disease +GARD:0006626,GARD:0022531,GARD:0021921,GARD:0015978,Rare genetic disease +GARD:0006626,GARD:0022531,GARD:0020311,GARD:0010615,Rare genetic disease +GARD:0006626,GARD:0022531,GARD:0019904,GARD:0010615,Rare genetic disease +GARD:0006626,GARD:0022531,GARD:0021921,GARD:0009901,Rare genetic disease +GARD:0006626,GARD:0022531,GARD:0021614,GARD:0009901,Rare genetic disease +GARD:0006626,GARD:0022531,GARD:0020273,GARD:0009902,Rare genetic disease +GARD:0006626,GARD:0022510,GARD:0019008,GARD:0010615,Rare skin disease +GARD:0006626,GARD:0022520,GARD:0019513,GARD:0015978,Rare ophthalmic disorder +GARD:0006626,GARD:0022527,GARD:0020461,GARD:0009901,Rare circulatory system disease +GARD:0006626,GARD:0022527,GARD:0020461,GARD:0015978,Rare circulatory system disease +GARD:0006626,GARD:0022506,GARD:0019788,GARD:0015978,Rare hepatic disease +GARD:0006626,GARD:0022531,GARD:0021921,GARD:0010615,Rare genetic disease +GARD:0006626,GARD:0022531,GARD:0019904,GARD:0009901,Rare genetic disease +GARD:0006626,GARD:0022513,GARD:0020461,GARD:0009901,Rare developmental defect during embryogenesis +GARD:0006626,GARD:0022510,GARD:0019008,GARD:0015978,Rare skin disease +GARD:0006626,GARD:0022513,GARD:0019431,GARD:0009901,Rare developmental defect during embryogenesis +GARD:0006626,GARD:0022531,GARD:0019431,GARD:0009902,Rare genetic disease +GARD:0006626,GARD:0022513,GARD:0019431,GARD:0010615,Rare developmental defect during embryogenesis +GARD:0006626,GARD:0022531,GARD:0021614,GARD:0009902,Rare genetic disease +GARD:0006626,GARD:0022513,GARD:0019904,GARD:0009902,Rare developmental defect during embryogenesis +GARD:0006626,GARD:0022531,GARD:0019431,GARD:0009901,Rare genetic disease +GARD:0006626,GARD:0022531,GARD:0019904,GARD:0009902,Rare genetic disease +GARD:0006626,GARD:0022531,GARD:0020311,GARD:0009902,Rare genetic disease +GARD:0006632,GARD:0022521,GARD:0020217,,Rare endocrine disease +GARD:0006632,GARD:0022531,GARD:0020312,,Rare genetic disease +GARD:0006632,GARD:0022516,GARD:0019787,,Rare gastroenterologic disease +GARD:0006632,GARD:0022531,GARD:0020062,,Rare genetic disease +GARD:0006635,GARD:0022531,GARD:0019928,GARD:0015995,Rare genetic disease +GARD:0006635,GARD:0022524,GARD:0019928,GARD:0015695,Rare neurologic disease +GARD:0006635,GARD:0022508,GARD:0021518,GARD:0015995,Rare inborn errors of metabolism +GARD:0006635,GARD:0022508,GARD:0021518,GARD:0015683,Rare inborn errors of metabolism +GARD:0006635,GARD:0022524,GARD:0019928,GARD:0015683,Rare neurologic disease +GARD:0006635,GARD:0022531,GARD:0019928,GARD:0015695,Rare genetic disease +GARD:0006635,GARD:0022531,GARD:0019928,GARD:0015683,Rare genetic disease +GARD:0006635,GARD:0022508,GARD:0021518,GARD:0015695,Rare inborn errors of metabolism +GARD:0006635,GARD:0022524,GARD:0019928,GARD:0015095,Rare neurologic disease +GARD:0006635,GARD:0022531,GARD:0021518,GARD:0015683,Rare genetic disease +GARD:0006635,GARD:0022531,GARD:0021518,GARD:0015095,Rare genetic disease +GARD:0006635,GARD:0022531,GARD:0021518,GARD:0015695,Rare genetic disease +GARD:0006635,GARD:0022531,GARD:0021518,GARD:0015995,Rare genetic disease +GARD:0006635,GARD:0022531,GARD:0019928,GARD:0015095,Rare genetic disease +GARD:0006635,GARD:0022508,GARD:0021518,GARD:0015095,Rare inborn errors of metabolism +GARD:0006635,GARD:0022524,GARD:0019928,GARD:0015995,Rare neurologic disease +GARD:0006637,GARD:0022531,GARD:0020280,GARD:0019822,Rare genetic disease +GARD:0006637,GARD:0022531,GARD:0020280,GARD:0021429,Rare genetic disease +GARD:0006637,GARD:0022524,GARD:0020240,GARD:0019822,Rare neurologic disease +GARD:0006637,GARD:0022524,GARD:0020240,GARD:0021429,Rare neurologic disease +GARD:0006637,GARD:0022531,GARD:0020280,GARD:0019823,Rare genetic disease +GARD:0006637,GARD:0022524,GARD:0020240,GARD:0019823,Rare neurologic disease +GARD:0006639,GARD:0022531,GARD:0019455,GARD:0015236,Rare genetic disease +GARD:0006639,GARD:0022531,GARD:0019455,GARD:0016149,Rare genetic disease +GARD:0006639,GARD:0022522,GARD:0019455,GARD:0015236,Rare hematologic disease +GARD:0006639,GARD:0022522,GARD:0019455,GARD:0016149,Rare hematologic disease +GARD:0006639,GARD:0022522,GARD:0019455,GARD:0015578,Rare hematologic disease +GARD:0006639,GARD:0022522,GARD:0019455,GARD:0015576,Rare hematologic disease +GARD:0006639,GARD:0022531,GARD:0019455,GARD:0015576,Rare genetic disease +GARD:0006639,GARD:0022531,GARD:0019455,GARD:0015578,Rare genetic disease +GARD:0006643,GARD:0022531,GARD:0019470,GARD:0017170,Rare genetic disease +GARD:0006643,GARD:0022508,GARD:0021334,GARD:0017168,Rare inborn errors of metabolism +GARD:0006643,GARD:0022531,GARD:0021125,GARD:0017170,Rare genetic disease +GARD:0006643,GARD:0022531,GARD:0019470,GARD:0017168,Rare genetic disease +GARD:0006643,GARD:0022508,GARD:0021334,GARD:0015026,Rare inborn errors of metabolism +GARD:0006643,GARD:0022522,GARD:0019470,GARD:0015026,Rare hematologic disease +GARD:0006643,GARD:0022510,GARD:0021125,GARD:0017170,Rare skin disease +GARD:0006643,GARD:0022520,GARD:0021125,GARD:0015026,Rare ophthalmic disorder +GARD:0006643,GARD:0022522,GARD:0019470,GARD:0017168,Rare hematologic disease +GARD:0006643,GARD:0022520,GARD:0021125,GARD:0017170,Rare ophthalmic disorder +GARD:0006643,GARD:0022531,GARD:0021125,GARD:0017169,Rare genetic disease +GARD:0006643,GARD:0022510,GARD:0021125,GARD:0017169,Rare skin disease +GARD:0006643,GARD:0022510,GARD:0021125,GARD:0015026,Rare skin disease +GARD:0006643,GARD:0022531,GARD:0021334,GARD:0015026,Rare genetic disease +GARD:0006643,GARD:0022508,GARD:0021334,GARD:0017170,Rare inborn errors of metabolism +GARD:0006643,GARD:0022520,GARD:0021125,GARD:0017169,Rare ophthalmic disorder +GARD:0006643,GARD:0022522,GARD:0019470,GARD:0017169,Rare hematologic disease +GARD:0006643,GARD:0022531,GARD:0019470,GARD:0017169,Rare genetic disease +GARD:0006643,GARD:0022531,GARD:0021125,GARD:0017168,Rare genetic disease +GARD:0006643,GARD:0022508,GARD:0021334,GARD:0017169,Rare inborn errors of metabolism +GARD:0006643,GARD:0022531,GARD:0021334,GARD:0017168,Rare genetic disease +GARD:0006643,GARD:0022510,GARD:0021125,GARD:0017168,Rare skin disease +GARD:0006643,GARD:0022522,GARD:0019470,GARD:0017170,Rare hematologic disease +GARD:0006643,GARD:0022520,GARD:0021125,GARD:0017168,Rare ophthalmic disorder +GARD:0006643,GARD:0022531,GARD:0021125,GARD:0015026,Rare genetic disease +GARD:0006643,GARD:0022531,GARD:0021334,GARD:0017169,Rare genetic disease +GARD:0006643,GARD:0022531,GARD:0019470,GARD:0015026,Rare genetic disease +GARD:0006643,GARD:0022531,GARD:0021334,GARD:0017170,Rare genetic disease +GARD:0006649,GARD:0022524,GARD:0019489,GARD:0016131,Rare neurologic disease +GARD:0006649,GARD:0022524,GARD:0020092,GARD:0015854,Rare neurologic disease +GARD:0006649,GARD:0022524,GARD:0020092,GARD:0015853,Rare neurologic disease +GARD:0006649,GARD:0022524,GARD:0020092,GARD:0016131,Rare neurologic disease +GARD:0006649,GARD:0022509,GARD:0019433,GARD:0016267,Rare infectious disease +GARD:0006649,GARD:0022531,GARD:0020322,GARD:0016267,Rare genetic disease +GARD:0006649,GARD:0022524,GARD:0019489,GARD:0016267,Rare neurologic disease +GARD:0006649,GARD:0022524,GARD:0019433,GARD:0016267,Rare neurologic disease +GARD:0006649,GARD:0022531,GARD:0020322,GARD:0015853,Rare genetic disease +GARD:0006649,GARD:0022531,GARD:0020322,GARD:0015854,Rare genetic disease +GARD:0006649,GARD:0022509,GARD:0019433,GARD:0015600,Rare infectious disease +GARD:0006649,GARD:0022524,GARD:0019433,GARD:0015600,Rare neurologic disease +GARD:0006649,GARD:0022523,GARD:0020322,GARD:0015854,Rare immune disease +GARD:0006649,GARD:0022531,GARD:0020322,GARD:0016131,Rare genetic disease +GARD:0006649,GARD:0022523,GARD:0020322,GARD:0016131,Rare immune disease +GARD:0006649,GARD:0022524,GARD:0019489,GARD:0015600,Rare neurologic disease +GARD:0006649,GARD:0022523,GARD:0020322,GARD:0015600,Rare immune disease +GARD:0006649,GARD:0022524,GARD:0019489,GARD:0015853,Rare neurologic disease +GARD:0006649,GARD:0022509,GARD:0019433,GARD:0015853,Rare infectious disease +GARD:0006649,GARD:0022524,GARD:0019433,GARD:0015853,Rare neurologic disease +GARD:0006649,GARD:0022509,GARD:0019433,GARD:0016131,Rare infectious disease +GARD:0006649,GARD:0022523,GARD:0020322,GARD:0015853,Rare immune disease +GARD:0006649,GARD:0022524,GARD:0020092,GARD:0016267,Rare neurologic disease +GARD:0006649,GARD:0022524,GARD:0019489,GARD:0015854,Rare neurologic disease +GARD:0006649,GARD:0022531,GARD:0020322,GARD:0015600,Rare genetic disease +GARD:0006649,GARD:0022524,GARD:0019433,GARD:0016131,Rare neurologic disease +GARD:0006649,GARD:0022524,GARD:0020092,GARD:0015600,Rare neurologic disease +GARD:0006649,GARD:0022509,GARD:0019433,GARD:0015854,Rare infectious disease +GARD:0006649,GARD:0022523,GARD:0020322,GARD:0016267,Rare immune disease +GARD:0006649,GARD:0022524,GARD:0019433,GARD:0015854,Rare neurologic disease +GARD:0006657,GARD:0022524,GARD:0021754,,Rare neurologic disease +GARD:0006660,GARD:0022516,GARD:0019846,GARD:0015315,Rare gastroenterologic disease +GARD:0006660,GARD:0022536,GARD:0019846,GARD:0015525,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006660,GARD:0022536,GARD:0019846,GARD:0015696,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006660,GARD:0022531,GARD:0019846,GARD:0015316,Rare genetic disease +GARD:0006660,GARD:0022516,GARD:0019846,GARD:0015432,Rare gastroenterologic disease +GARD:0006660,GARD:0022516,GARD:0019846,GARD:0015403,Rare gastroenterologic disease +GARD:0006660,GARD:0022536,GARD:0019846,GARD:0015315,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006660,GARD:0022516,GARD:0019846,GARD:0015697,Rare gastroenterologic disease +GARD:0006660,GARD:0022536,GARD:0019846,GARD:0015432,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006660,GARD:0022531,GARD:0019846,GARD:0015315,Rare genetic disease +GARD:0006660,GARD:0022531,GARD:0019846,GARD:0015402,Rare genetic disease +GARD:0006660,GARD:0022536,GARD:0019846,GARD:0015316,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006660,GARD:0022516,GARD:0019846,GARD:0015696,Rare gastroenterologic disease +GARD:0006660,GARD:0022536,GARD:0019846,GARD:0015403,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006660,GARD:0022536,GARD:0019846,GARD:0015697,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006660,GARD:0022536,GARD:0019846,GARD:0015076,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006660,GARD:0022536,GARD:0019846,GARD:0015402,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006660,GARD:0022516,GARD:0019846,GARD:0015525,Rare gastroenterologic disease +GARD:0006660,GARD:0022531,GARD:0019846,GARD:0015697,Rare genetic disease +GARD:0006660,GARD:0022531,GARD:0019846,GARD:0015076,Rare genetic disease +GARD:0006660,GARD:0022516,GARD:0019846,GARD:0015076,Rare gastroenterologic disease +GARD:0006660,GARD:0022516,GARD:0019846,GARD:0015402,Rare gastroenterologic disease +GARD:0006660,GARD:0022531,GARD:0019846,GARD:0015432,Rare genetic disease +GARD:0006660,GARD:0022516,GARD:0019846,GARD:0015316,Rare gastroenterologic disease +GARD:0006660,GARD:0022531,GARD:0019846,GARD:0015525,Rare genetic disease +GARD:0006660,GARD:0022531,GARD:0019846,GARD:0015403,Rare genetic disease +GARD:0006660,GARD:0022531,GARD:0019846,GARD:0015696,Rare genetic disease +GARD:0006661,GARD:0022508,GARD:0018959,,Rare inborn errors of metabolism +GARD:0006661,GARD:0022531,GARD:0018959,,Rare genetic disease +GARD:0006665,GARD:0022531,GARD:0022441,GARD:0016832,Rare genetic disease +GARD:0006665,GARD:0022524,GARD:0020088,GARD:0016830,Rare neurologic disease +GARD:0006665,GARD:0022531,GARD:0019274,GARD:0016830,Rare genetic disease +GARD:0006665,GARD:0022524,GARD:0019832,GARD:0016832,Rare neurologic disease +GARD:0006665,GARD:0022524,GARD:0020978,GARD:0017131,Rare neurologic disease +GARD:0006665,GARD:0022513,GARD:0020978,GARD:0017289,Rare developmental defect during embryogenesis +GARD:0006665,GARD:0022524,GARD:0019832,GARD:0016830,Rare neurologic disease +GARD:0006665,GARD:0022531,GARD:0020978,GARD:0017131,Rare genetic disease +GARD:0006665,GARD:0022513,GARD:0019832,GARD:0016831,Rare developmental defect during embryogenesis +GARD:0006665,GARD:0022521,GARD:0019274,GARD:0016831,Rare endocrine disease +GARD:0006665,GARD:0022531,GARD:0020088,GARD:0016831,Rare genetic disease +GARD:0006665,GARD:0022531,GARD:0020088,GARD:0016832,Rare genetic disease +GARD:0006665,GARD:0022513,GARD:0020978,GARD:0017131,Rare developmental defect during embryogenesis +GARD:0006665,GARD:0022513,GARD:0020978,GARD:0016830,Rare developmental defect during embryogenesis +GARD:0006665,GARD:0022524,GARD:0020978,GARD:0016831,Rare neurologic disease +GARD:0006665,GARD:0022531,GARD:0022441,GARD:0017289,Rare genetic disease +GARD:0006665,GARD:0022524,GARD:0019832,GARD:0016831,Rare neurologic disease +GARD:0006665,GARD:0022521,GARD:0019274,GARD:0016830,Rare endocrine disease +GARD:0006665,GARD:0022513,GARD:0019832,GARD:0017289,Rare developmental defect during embryogenesis +GARD:0006665,GARD:0022513,GARD:0019832,GARD:0016830,Rare developmental defect during embryogenesis +GARD:0006665,GARD:0022513,GARD:0019832,GARD:0017131,Rare developmental defect during embryogenesis +GARD:0006665,GARD:0022531,GARD:0019274,GARD:0017131,Rare genetic disease +GARD:0006665,GARD:0022524,GARD:0020088,GARD:0017289,Rare neurologic disease +GARD:0006665,GARD:0022521,GARD:0019274,GARD:0017289,Rare endocrine disease +GARD:0006665,GARD:0022521,GARD:0019274,GARD:0017131,Rare endocrine disease +GARD:0006665,GARD:0022531,GARD:0019274,GARD:0016831,Rare genetic disease +GARD:0006665,GARD:0022531,GARD:0020978,GARD:0016832,Rare genetic disease +GARD:0006665,GARD:0022513,GARD:0020978,GARD:0016831,Rare developmental defect during embryogenesis +GARD:0006665,GARD:0022521,GARD:0019274,GARD:0016832,Rare endocrine disease +GARD:0006665,GARD:0022524,GARD:0020088,GARD:0017131,Rare neurologic disease +GARD:0006665,GARD:0022531,GARD:0020978,GARD:0016830,Rare genetic disease +GARD:0006665,GARD:0022524,GARD:0020088,GARD:0016832,Rare neurologic disease +GARD:0006665,GARD:0022531,GARD:0022441,GARD:0016830,Rare genetic disease +GARD:0006665,GARD:0022531,GARD:0019274,GARD:0016832,Rare genetic disease +GARD:0006665,GARD:0022531,GARD:0022441,GARD:0017131,Rare genetic disease +GARD:0006665,GARD:0022531,GARD:0020088,GARD:0017131,Rare genetic disease +GARD:0006665,GARD:0022524,GARD:0020978,GARD:0017289,Rare neurologic disease +GARD:0006665,GARD:0022531,GARD:0020978,GARD:0016831,Rare genetic disease +GARD:0006665,GARD:0022531,GARD:0022441,GARD:0016831,Rare genetic disease +GARD:0006665,GARD:0022531,GARD:0020088,GARD:0017289,Rare genetic disease +GARD:0006665,GARD:0022531,GARD:0020978,GARD:0017289,Rare genetic disease +GARD:0006665,GARD:0022524,GARD:0019832,GARD:0017289,Rare neurologic disease +GARD:0006665,GARD:0022524,GARD:0020978,GARD:0016832,Rare neurologic disease +GARD:0006665,GARD:0022531,GARD:0020088,GARD:0016830,Rare genetic disease +GARD:0006665,GARD:0022524,GARD:0020978,GARD:0016830,Rare neurologic disease +GARD:0006665,GARD:0022531,GARD:0019274,GARD:0017289,Rare genetic disease +GARD:0006665,GARD:0022524,GARD:0020088,GARD:0016831,Rare neurologic disease +GARD:0006665,GARD:0022513,GARD:0019832,GARD:0016832,Rare developmental defect during embryogenesis +GARD:0006665,GARD:0022524,GARD:0019832,GARD:0017131,Rare neurologic disease +GARD:0006665,GARD:0022513,GARD:0020978,GARD:0016832,Rare developmental defect during embryogenesis +GARD:0006666,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0006666,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0006666,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0006666,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0006666,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0006666,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0006666,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0006666,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0006666,GARD:0022513,GARD:0020573,,Rare developmental defect during embryogenesis +GARD:0006666,GARD:0022511,GARD:0020573,,Rare bone disease +GARD:0006666,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0006666,GARD:0022531,GARD:0020573,,Rare genetic disease +GARD:0006666,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0006667,GARD:0022513,GARD:0022092,,Rare developmental defect during embryogenesis +GARD:0006667,GARD:0022513,GARD:0019900,,Rare developmental defect during embryogenesis +GARD:0006667,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0006667,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0006667,GARD:0022531,GARD:0020552,,Rare genetic disease +GARD:0006667,GARD:0022508,GARD:0018953,,Rare inborn errors of metabolism +GARD:0006667,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0006667,GARD:0022531,GARD:0018953,,Rare genetic disease +GARD:0006667,GARD:0022531,GARD:0019900,,Rare genetic disease +GARD:0006667,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0006667,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0006667,GARD:0022531,GARD:0022173,,Rare genetic disease +GARD:0006667,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0006667,GARD:0022524,GARD:0020552,,Rare neurologic disease +GARD:0006667,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0006667,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0006667,GARD:0022520,GARD:0022092,,Rare ophthalmic disorder +GARD:0006670,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0006670,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0006670,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0006670,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0006670,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0006675,GARD:0022513,GARD:0007065,GARD:0017118,Rare developmental defect during embryogenesis +GARD:0006675,GARD:0022515,GARD:0020520,GARD:0017118,Rare cardiac disease +GARD:0006675,GARD:0022524,GARD:0022440,GARD:0017118,Rare neurologic disease +GARD:0006675,GARD:0022531,GARD:0007065,GARD:0017119,Rare genetic disease +GARD:0006675,GARD:0022508,GARD:0007065,GARD:0017119,Rare inborn errors of metabolism +GARD:0006675,GARD:0022511,GARD:0007065,GARD:0017119,Rare bone disease +GARD:0006675,GARD:0022536,GARD:0020520,GARD:0017119,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006675,GARD:0022510,GARD:0019016,GARD:0017118,Rare skin disease +GARD:0006675,GARD:0022520,GARD:0019507,GARD:0017119,Rare ophthalmic disorder +GARD:0006675,GARD:0022524,GARD:0022440,GARD:0017119,Rare neurologic disease +GARD:0006675,GARD:0022531,GARD:0022440,GARD:0017119,Rare genetic disease +GARD:0006675,GARD:0022513,GARD:0019507,GARD:0017119,Rare developmental defect during embryogenesis +GARD:0006675,GARD:0022536,GARD:0007065,GARD:0017119,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006675,GARD:0022536,GARD:0020520,GARD:0017118,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006675,GARD:0022524,GARD:0018890,GARD:0017119,Rare neurologic disease +GARD:0006675,GARD:0022511,GARD:0019203,GARD:0017119,Rare bone disease +GARD:0006675,GARD:0022524,GARD:0018890,GARD:0017118,Rare neurologic disease +GARD:0006675,GARD:0022531,GARD:0019016,GARD:0017118,Rare genetic disease +GARD:0006675,GARD:0022531,GARD:0019507,GARD:0017118,Rare genetic disease +GARD:0006675,GARD:0022536,GARD:0007065,GARD:0017118,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006675,GARD:0022531,GARD:0019203,GARD:0017118,Rare genetic disease +GARD:0006675,GARD:0022531,GARD:0007065,GARD:0017118,Rare genetic disease +GARD:0006675,GARD:0022531,GARD:0022440,GARD:0017118,Rare genetic disease +GARD:0006675,GARD:0022531,GARD:0018890,GARD:0017118,Rare genetic disease +GARD:0006675,GARD:0022511,GARD:0007065,GARD:0017118,Rare bone disease +GARD:0006675,GARD:0022531,GARD:0019016,GARD:0017119,Rare genetic disease +GARD:0006675,GARD:0022513,GARD:0019507,GARD:0017118,Rare developmental defect during embryogenesis +GARD:0006675,GARD:0022520,GARD:0007065,GARD:0017118,Rare ophthalmic disorder +GARD:0006675,GARD:0022520,GARD:0007065,GARD:0017119,Rare ophthalmic disorder +GARD:0006675,GARD:0022531,GARD:0019507,GARD:0017119,Rare genetic disease +GARD:0006675,GARD:0022515,GARD:0020520,GARD:0017119,Rare cardiac disease +GARD:0006675,GARD:0022520,GARD:0019507,GARD:0017118,Rare ophthalmic disorder +GARD:0006675,GARD:0022531,GARD:0018890,GARD:0017119,Rare genetic disease +GARD:0006675,GARD:0022531,GARD:0020520,GARD:0017118,Rare genetic disease +GARD:0006675,GARD:0022513,GARD:0007065,GARD:0017119,Rare developmental defect during embryogenesis +GARD:0006675,GARD:0022510,GARD:0019016,GARD:0017119,Rare skin disease +GARD:0006675,GARD:0022511,GARD:0019203,GARD:0017118,Rare bone disease +GARD:0006675,GARD:0022531,GARD:0019203,GARD:0017119,Rare genetic disease +GARD:0006675,GARD:0022508,GARD:0007065,GARD:0017118,Rare inborn errors of metabolism +GARD:0006675,GARD:0022531,GARD:0020520,GARD:0017119,Rare genetic disease +GARD:0006677,GARD:0022520,GARD:0022118,,Rare ophthalmic disorder +GARD:0006677,GARD:0022524,GARD:0019484,,Rare neurologic disease +GARD:0006677,GARD:0022531,GARD:0021271,,Rare genetic disease +GARD:0006677,GARD:0022524,GARD:0021271,,Rare neurologic disease +GARD:0006677,GARD:0022531,GARD:0022158,,Rare genetic disease +GARD:0006677,GARD:0022531,GARD:0021039,,Rare genetic disease +GARD:0006681,GARD:0022524,GARD:0020987,,Rare neurologic disease +GARD:0006681,GARD:0022513,GARD:0020987,,Rare developmental defect during embryogenesis +GARD:0006681,GARD:0022531,GARD:0020987,,Rare genetic disease +GARD:0006682,GARD:0022513,GARD:0019865,GARD:0020998,Rare developmental defect during embryogenesis +GARD:0006682,GARD:0022524,GARD:0019865,GARD:0017272,Rare neurologic disease +GARD:0006682,GARD:0022531,GARD:0021003,GARD:0020998,Rare genetic disease +GARD:0006682,GARD:0022524,GARD:0019865,GARD:0020998,Rare neurologic disease +GARD:0006682,GARD:0022513,GARD:0019865,GARD:0017272,Rare developmental defect during embryogenesis +GARD:0006682,GARD:0022531,GARD:0021003,GARD:0017272,Rare genetic disease +GARD:0006683,GARD:0022524,GARD:0021001,GARD:0015182,Rare neurologic disease +GARD:0006683,GARD:0022531,GARD:0021544,GARD:0015182,Rare genetic disease +GARD:0006683,GARD:0022513,GARD:0019908,GARD:0015759,Rare developmental defect during embryogenesis +GARD:0006683,GARD:0022528,GARD:0019908,GARD:0015759,Rare otorhinolaryngologic disease +GARD:0006683,GARD:0022531,GARD:0021007,GARD:0015759,Rare genetic disease +GARD:0006683,GARD:0022513,GARD:0021001,GARD:0015759,Rare developmental defect during embryogenesis +GARD:0006683,GARD:0022513,GARD:0019908,GARD:0015182,Rare developmental defect during embryogenesis +GARD:0006683,GARD:0022513,GARD:0021001,GARD:0015182,Rare developmental defect during embryogenesis +GARD:0006683,GARD:0022524,GARD:0021001,GARD:0015759,Rare neurologic disease +GARD:0006683,GARD:0022531,GARD:0019908,GARD:0015759,Rare genetic disease +GARD:0006683,GARD:0022531,GARD:0019908,GARD:0015182,Rare genetic disease +GARD:0006683,GARD:0022531,GARD:0021007,GARD:0015182,Rare genetic disease +GARD:0006683,GARD:0022507,GARD:0019908,GARD:0015182,Rare maxillo-facial surgical disease +GARD:0006683,GARD:0022528,GARD:0019908,GARD:0015182,Rare otorhinolaryngologic disease +GARD:0006683,GARD:0022507,GARD:0019908,GARD:0015759,Rare maxillo-facial surgical disease +GARD:0006683,GARD:0022531,GARD:0021544,GARD:0015759,Rare genetic disease +GARD:0006703,GARD:0022531,GARD:0020229,,Rare genetic disease +GARD:0006703,GARD:0022508,GARD:0020229,,Rare inborn errors of metabolism +GARD:0006703,GARD:0022521,GARD:0020229,,Rare endocrine disease +GARD:0006704,GARD:0022508,GARD:0006414,,Rare inborn errors of metabolism +GARD:0006704,GARD:0022531,GARD:0006414,,Rare genetic disease +GARD:0006704,GARD:0022521,GARD:0006414,,Rare endocrine disease +GARD:0006710,GARD:0022531,GARD:0021157,,Rare genetic disease +GARD:0006710,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0006710,GARD:0022508,GARD:0021157,,Rare inborn errors of metabolism +GARD:0006710,GARD:0022524,GARD:0020552,,Rare neurologic disease +GARD:0006710,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0006710,GARD:0022531,GARD:0020552,,Rare genetic disease +GARD:0006724,GARD:0022531,GARD:0021569,,Rare genetic disease +GARD:0006724,GARD:0022511,GARD:0021569,,Rare bone disease +GARD:0006724,GARD:0022513,GARD:0021569,,Rare developmental defect during embryogenesis +GARD:0006724,GARD:0022531,GARD:0019185,,Rare genetic disease +GARD:0006725,GARD:0022512,GARD:0022290,,Rare renal disease +GARD:0006725,GARD:0022536,GARD:0022290,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006725,GARD:0021079,GARD:0021081,,Rare systemic or rheumatological disease of childhood +GARD:0006725,GARD:0022531,GARD:0022290,,Rare genetic disease +GARD:0006725,GARD:0022525,GARD:0019984,,Rare systemic or rheumatologic disease +GARD:0006725,GARD:0022527,GARD:0019984,,Rare circulatory system disease +GARD:0006729,GARD:0022531,GARD:0019565,GARD:0015649,Rare genetic disease +GARD:0006729,GARD:0022524,GARD:0020374,GARD:0015649,Rare neurologic disease +GARD:0006729,GARD:0022524,GARD:0019563,GARD:0015649,Rare neurologic disease +GARD:0006729,GARD:0022531,GARD:0021613,GARD:0015649,Rare genetic disease +GARD:0006729,GARD:0022531,GARD:0019566,GARD:0015649,Rare genetic disease +GARD:0006729,GARD:0022524,GARD:0019565,GARD:0015649,Rare neurologic disease +GARD:0006729,GARD:0022524,GARD:0019566,GARD:0015649,Rare neurologic disease +GARD:0006729,GARD:0022531,GARD:0019569,GARD:0015649,Rare genetic disease +GARD:0006729,GARD:0022531,GARD:0019563,GARD:0015649,Rare genetic disease +GARD:0006734,GARD:0022513,GARD:0019202,GARD:0020662,Rare developmental defect during embryogenesis +GARD:0006734,GARD:0022513,GARD:0019202,GARD:0008735,Rare developmental defect during embryogenesis +GARD:0006734,GARD:0022513,GARD:0019900,GARD:0017191,Rare developmental defect during embryogenesis +GARD:0006734,GARD:0022511,GARD:0019202,GARD:0017193,Rare bone disease +GARD:0006734,GARD:0022511,GARD:0019202,GARD:0008735,Rare bone disease +GARD:0006734,GARD:0022531,GARD:0019202,GARD:0017194,Rare genetic disease +GARD:0006734,GARD:0022531,GARD:0019900,GARD:0017191,Rare genetic disease +GARD:0006734,GARD:0022531,GARD:0019202,GARD:0017191,Rare genetic disease +GARD:0006734,GARD:0022513,GARD:0019900,GARD:0020662,Rare developmental defect during embryogenesis +GARD:0006734,GARD:0022531,GARD:0019202,GARD:0017192,Rare genetic disease +GARD:0006734,GARD:0022531,GARD:0019900,GARD:0017192,Rare genetic disease +GARD:0006734,GARD:0022531,GARD:0019202,GARD:0008735,Rare genetic disease +GARD:0006734,GARD:0022531,GARD:0019900,GARD:0008735,Rare genetic disease +GARD:0006734,GARD:0022511,GARD:0019202,GARD:0017191,Rare bone disease +GARD:0006734,GARD:0022511,GARD:0019202,GARD:0020662,Rare bone disease +GARD:0006734,GARD:0022531,GARD:0019900,GARD:0017193,Rare genetic disease +GARD:0006734,GARD:0022513,GARD:0019202,GARD:0017192,Rare developmental defect during embryogenesis +GARD:0006734,GARD:0022531,GARD:0019900,GARD:0020662,Rare genetic disease +GARD:0006734,GARD:0022513,GARD:0019900,GARD:0008735,Rare developmental defect during embryogenesis +GARD:0006734,GARD:0022513,GARD:0019900,GARD:0017192,Rare developmental defect during embryogenesis +GARD:0006734,GARD:0022511,GARD:0019202,GARD:0017194,Rare bone disease +GARD:0006734,GARD:0022513,GARD:0019900,GARD:0017193,Rare developmental defect during embryogenesis +GARD:0006734,GARD:0022513,GARD:0019900,GARD:0017194,Rare developmental defect during embryogenesis +GARD:0006734,GARD:0022531,GARD:0019202,GARD:0020662,Rare genetic disease +GARD:0006734,GARD:0022531,GARD:0019900,GARD:0017194,Rare genetic disease +GARD:0006734,GARD:0022513,GARD:0019202,GARD:0017193,Rare developmental defect during embryogenesis +GARD:0006734,GARD:0022513,GARD:0019202,GARD:0017194,Rare developmental defect during embryogenesis +GARD:0006734,GARD:0022531,GARD:0019202,GARD:0017193,Rare genetic disease +GARD:0006734,GARD:0022511,GARD:0019202,GARD:0017192,Rare bone disease +GARD:0006734,GARD:0022513,GARD:0019202,GARD:0017191,Rare developmental defect during embryogenesis +GARD:0006735,GARD:0022511,GARD:0021132,GARD:0012943,Rare bone disease +GARD:0006735,GARD:0022531,GARD:0021132,GARD:0013105,Rare genetic disease +GARD:0006735,GARD:0022531,GARD:0020306,GARD:0017320,Rare genetic disease +GARD:0006735,GARD:0022531,GARD:0021132,GARD:0012943,Rare genetic disease +GARD:0006735,GARD:0022512,GARD:0019230,GARD:0017186,Rare renal disease +GARD:0006735,GARD:0022513,GARD:0021132,GARD:0013105,Rare developmental defect during embryogenesis +GARD:0006735,GARD:0022521,GARD:0021132,GARD:0017320,Rare endocrine disease +GARD:0006735,GARD:0022511,GARD:0021132,GARD:0017186,Rare bone disease +GARD:0006735,GARD:0022512,GARD:0019230,GARD:0017320,Rare renal disease +GARD:0006735,GARD:0022511,GARD:0021132,GARD:0017320,Rare bone disease +GARD:0006735,GARD:0022531,GARD:0020306,GARD:0016781,Rare genetic disease +GARD:0006735,GARD:0022511,GARD:0021132,GARD:0016977,Rare bone disease +GARD:0006735,GARD:0022513,GARD:0021132,GARD:0017186,Rare developmental defect during embryogenesis +GARD:0006735,GARD:0022511,GARD:0021132,GARD:0016781,Rare bone disease +GARD:0006735,GARD:0022531,GARD:0021132,GARD:0017186,Rare genetic disease +GARD:0006735,GARD:0022521,GARD:0021132,GARD:0016977,Rare endocrine disease +GARD:0006735,GARD:0022521,GARD:0021132,GARD:0012943,Rare endocrine disease +GARD:0006735,GARD:0022512,GARD:0019230,GARD:0012943,Rare renal disease +GARD:0006735,GARD:0022531,GARD:0020306,GARD:0016977,Rare genetic disease +GARD:0006735,GARD:0022513,GARD:0021132,GARD:0017320,Rare developmental defect during embryogenesis +GARD:0006735,GARD:0022512,GARD:0019230,GARD:0013105,Rare renal disease +GARD:0006735,GARD:0022511,GARD:0021132,GARD:0013105,Rare bone disease +GARD:0006735,GARD:0022512,GARD:0019230,GARD:0016977,Rare renal disease +GARD:0006735,GARD:0022531,GARD:0021132,GARD:0016977,Rare genetic disease +GARD:0006735,GARD:0022531,GARD:0021132,GARD:0016781,Rare genetic disease +GARD:0006735,GARD:0022513,GARD:0021132,GARD:0016977,Rare developmental defect during embryogenesis +GARD:0006735,GARD:0022521,GARD:0021132,GARD:0016781,Rare endocrine disease +GARD:0006735,GARD:0022531,GARD:0020306,GARD:0013105,Rare genetic disease +GARD:0006735,GARD:0022513,GARD:0021132,GARD:0012943,Rare developmental defect during embryogenesis +GARD:0006735,GARD:0022513,GARD:0021132,GARD:0016781,Rare developmental defect during embryogenesis +GARD:0006735,GARD:0022512,GARD:0019230,GARD:0016781,Rare renal disease +GARD:0006735,GARD:0022531,GARD:0020306,GARD:0012943,Rare genetic disease +GARD:0006735,GARD:0022531,GARD:0020306,GARD:0017186,Rare genetic disease +GARD:0006735,GARD:0022521,GARD:0021132,GARD:0013105,Rare endocrine disease +GARD:0006735,GARD:0022531,GARD:0021132,GARD:0017320,Rare genetic disease +GARD:0006735,GARD:0022521,GARD:0021132,GARD:0017186,Rare endocrine disease +GARD:0006737,GARD:0022514,GARD:0015020,,Rare gynecologic or obstetric disease +GARD:0006737,GARD:0022521,GARD:0015020,,Rare endocrine disease +GARD:0006737,GARD:0022529,GARD:0015020,,Rare infertility +GARD:0006737,GARD:0022531,GARD:0015020,,Rare genetic disease +GARD:0006739,GARD:0022519,GARD:0019269,GARD:0015803,Rare surgical cardiac disease +GARD:0006739,GARD:0022513,GARD:0019269,GARD:0015803,Rare developmental defect during embryogenesis +GARD:0006749,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0006749,GARD:0022508,GARD:0018975,,Rare inborn errors of metabolism +GARD:0006749,GARD:0022513,GARD:0018975,,Rare developmental defect during embryogenesis +GARD:0006749,GARD:0022531,GARD:0019203,,Rare genetic disease +GARD:0006749,GARD:0022511,GARD:0019203,,Rare bone disease +GARD:0006749,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0006749,GARD:0022531,GARD:0018975,,Rare genetic disease +GARD:0006749,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0006757,GARD:0022519,GARD:0019553,,Rare surgical cardiac disease +GARD:0006757,GARD:0022513,GARD:0019553,,Rare developmental defect during embryogenesis +GARD:0006757,GARD:0022527,GARD:0019553,,Rare circulatory system disease +GARD:0006760,GARD:0021079,GARD:0021997,GARD:0015218,Rare systemic or rheumatological disease of childhood +GARD:0006760,GARD:0022513,GARD:0019201,GARD:0015218,Rare developmental defect during embryogenesis +GARD:0006760,GARD:0022525,GARD:0020257,GARD:0015218,Rare systemic or rheumatologic disease +GARD:0006760,GARD:0022511,GARD:0019201,GARD:0015218,Rare bone disease +GARD:0006760,GARD:0022531,GARD:0019201,GARD:0015218,Rare genetic disease +GARD:0006760,GARD:0021079,GARD:0021997,GARD:0015920,Rare systemic or rheumatological disease of childhood +GARD:0006760,GARD:0022513,GARD:0019201,GARD:0015920,Rare developmental defect during embryogenesis +GARD:0006760,GARD:0022511,GARD:0019201,GARD:0015920,Rare bone disease +GARD:0006760,GARD:0022531,GARD:0019201,GARD:0015920,Rare genetic disease +GARD:0006760,GARD:0022525,GARD:0020257,GARD:0015920,Rare systemic or rheumatologic disease +GARD:0006763,GARD:0022536,GARD:0020935,GARD:0015180,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006763,GARD:0022517,GARD:0020935,GARD:0015180,Rare respiratory disease +GARD:0006778,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0006778,GARD:0022520,GARD:0022109,,Rare ophthalmic disorder +GARD:0006778,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0006778,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0006778,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0006778,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0006778,GARD:0022531,GARD:0020084,,Rare genetic disease +GARD:0006778,GARD:0022524,GARD:0020084,,Rare neurologic disease +GARD:0006778,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0006778,GARD:0022531,GARD:0022109,,Rare genetic disease +GARD:0006779,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0006791,GARD:0022520,GARD:0021260,,Rare ophthalmic disorder +GARD:0006793,GARD:0022524,GARD:0019575,,Rare neurologic disease +GARD:0006793,GARD:0022524,GARD:0020543,,Rare neurologic disease +GARD:0006795,GARD:0022531,GARD:0019862,,Rare genetic disease +GARD:0006795,GARD:0022513,GARD:0010875,,Rare developmental defect during embryogenesis +GARD:0006795,GARD:0022513,GARD:0019862,,Rare developmental defect during embryogenesis +GARD:0006795,GARD:0022534,GARD:0019862,,Rare abdominal surgical disease +GARD:0006795,GARD:0022519,GARD:0010875,,Rare surgical cardiac disease +GARD:0006795,GARD:0022531,GARD:0021016,,Rare genetic disease +GARD:0006796,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0006796,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0006796,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0006797,GARD:0022524,GARD:0019433,,Rare neurologic disease +GARD:0006797,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0006797,GARD:0022509,GARD:0019433,,Rare infectious disease +GARD:0006798,GARD:0022508,GARD:0021341,GARD:0009703,Rare inborn errors of metabolism +GARD:0006798,GARD:0022511,GARD:0019208,GARD:0010726,Rare bone disease +GARD:0006798,GARD:0022513,GARD:0021609,GARD:0009703,Rare developmental defect during embryogenesis +GARD:0006798,GARD:0022531,GARD:0021609,GARD:0009703,Rare genetic disease +GARD:0006798,GARD:0022531,GARD:0021341,GARD:0004976,Rare genetic disease +GARD:0006798,GARD:0022513,GARD:0019208,GARD:0009703,Rare developmental defect during embryogenesis +GARD:0006798,GARD:0022531,GARD:0021609,GARD:0012807,Rare genetic disease +GARD:0006798,GARD:0022531,GARD:0019208,GARD:0012807,Rare genetic disease +GARD:0006798,GARD:0022531,GARD:0019208,GARD:0004976,Rare genetic disease +GARD:0006798,GARD:0022513,GARD:0021609,GARD:0012807,Rare developmental defect during embryogenesis +GARD:0006798,GARD:0022513,GARD:0019208,GARD:0004973,Rare developmental defect during embryogenesis +GARD:0006798,GARD:0022511,GARD:0019208,GARD:0004976,Rare bone disease +GARD:0006798,GARD:0022531,GARD:0019208,GARD:0009703,Rare genetic disease +GARD:0006798,GARD:0022513,GARD:0021609,GARD:0010726,Rare developmental defect during embryogenesis +GARD:0006798,GARD:0022531,GARD:0021341,GARD:0009703,Rare genetic disease +GARD:0006798,GARD:0022511,GARD:0019208,GARD:0004973,Rare bone disease +GARD:0006798,GARD:0022531,GARD:0021341,GARD:0012807,Rare genetic disease +GARD:0006798,GARD:0022531,GARD:0021609,GARD:0004976,Rare genetic disease +GARD:0006798,GARD:0022531,GARD:0021341,GARD:0010726,Rare genetic disease +GARD:0006798,GARD:0022508,GARD:0021341,GARD:0004973,Rare inborn errors of metabolism +GARD:0006798,GARD:0022513,GARD:0021609,GARD:0004973,Rare developmental defect during embryogenesis +GARD:0006798,GARD:0022531,GARD:0021609,GARD:0010726,Rare genetic disease +GARD:0006798,GARD:0022511,GARD:0019208,GARD:0012807,Rare bone disease +GARD:0006798,GARD:0022508,GARD:0021341,GARD:0012807,Rare inborn errors of metabolism +GARD:0006798,GARD:0022508,GARD:0021341,GARD:0004976,Rare inborn errors of metabolism +GARD:0006798,GARD:0022513,GARD:0019208,GARD:0012807,Rare developmental defect during embryogenesis +GARD:0006798,GARD:0022531,GARD:0019208,GARD:0010726,Rare genetic disease +GARD:0006798,GARD:0022531,GARD:0021341,GARD:0004973,Rare genetic disease +GARD:0006798,GARD:0022511,GARD:0019208,GARD:0009703,Rare bone disease +GARD:0006798,GARD:0022531,GARD:0021609,GARD:0004973,Rare genetic disease +GARD:0006798,GARD:0022531,GARD:0019208,GARD:0004973,Rare genetic disease +GARD:0006798,GARD:0022513,GARD:0019208,GARD:0010726,Rare developmental defect during embryogenesis +GARD:0006798,GARD:0022508,GARD:0021341,GARD:0010726,Rare inborn errors of metabolism +GARD:0006798,GARD:0022513,GARD:0021609,GARD:0004976,Rare developmental defect during embryogenesis +GARD:0006798,GARD:0022513,GARD:0019208,GARD:0004976,Rare developmental defect during embryogenesis +GARD:0006800,GARD:0022531,GARD:0020278,,Rare genetic disease +GARD:0006800,GARD:0022531,GARD:0010956,,Rare genetic disease +GARD:0006800,GARD:0022523,GARD:0010956,,Rare immune disease +GARD:0006800,GARD:0022510,GARD:0019019,,Rare skin disease +GARD:0006801,GARD:0022531,GARD:0019252,GARD:0021050,Rare genetic disease +GARD:0006801,GARD:0022531,GARD:0019252,GARD:0021049,Rare genetic disease +GARD:0006801,GARD:0022524,GARD:0019252,GARD:0021048,Rare neurologic disease +GARD:0006801,GARD:0022524,GARD:0020029,GARD:0021050,Rare neurologic disease +GARD:0006801,GARD:0022524,GARD:0019252,GARD:0021049,Rare neurologic disease +GARD:0006801,GARD:0022524,GARD:0019252,GARD:0021050,Rare neurologic disease +GARD:0006801,GARD:0022531,GARD:0020029,GARD:0021048,Rare genetic disease +GARD:0006801,GARD:0022524,GARD:0020029,GARD:0021049,Rare neurologic disease +GARD:0006801,GARD:0022531,GARD:0020029,GARD:0021049,Rare genetic disease +GARD:0006801,GARD:0022524,GARD:0020029,GARD:0021048,Rare neurologic disease +GARD:0006801,GARD:0022531,GARD:0019252,GARD:0021048,Rare genetic disease +GARD:0006801,GARD:0022531,GARD:0020029,GARD:0021050,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0016194,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0016150,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0016195,Rare genetic disease +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0016150,Rare neurologic disease +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0015550,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0016194,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0016251,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0016160,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0016243,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0016251,Rare genetic disease +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0016150,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0015887,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0015494,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0015550,Rare genetic disease +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0016160,Rare ophthalmic disorder +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0015997,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0015765,Rare genetic disease +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0015494,Rare neurologic disease +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0016243,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0015887,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0015765,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0015806,Rare genetic disease +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0015765,Rare neurologic disease +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0016150,Rare ophthalmic disorder +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0016434,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0015765,Rare neurologic disease +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0015801,Rare ophthalmic disorder +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0015887,Rare neurologic disease +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0016195,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0016195,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0016150,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0016194,Rare genetic disease +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0016159,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0015997,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0016124,Rare neurologic disease +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0015494,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0016297,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0016195,Rare genetic disease +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0015997,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0015550,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0016194,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0016159,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0015801,Rare genetic disease +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0016159,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0016194,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0016124,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0015887,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0015997,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0016194,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0016124,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0016159,Rare genetic disease +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0015806,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0015801,Rare genetic disease +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0016124,Rare neurologic disease +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0015887,Rare ophthalmic disorder +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0016297,Rare neurologic disease +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0015824,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0016195,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0016160,Rare genetic disease +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0015494,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0016195,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0016434,Rare genetic disease +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0015806,Rare ophthalmic disorder +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0015887,Rare genetic disease +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0015824,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0016297,Rare neurologic disease +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0016251,Rare ophthalmic disorder +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0015887,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0016251,Rare genetic disease +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0016243,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0016150,Rare neurologic disease +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0015887,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0016150,Rare genetic disease +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0015806,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0016159,Rare neurologic disease +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0016243,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0015997,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0016434,Rare genetic disease +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0016251,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0015494,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0015550,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0016251,Rare neurologic disease +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0015801,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0015494,Rare genetic disease +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0015765,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0016150,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0016150,Rare genetic disease +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0016297,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0016160,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0015824,Rare ophthalmic disorder +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0016297,Rare ophthalmic disorder +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0016434,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0016243,Rare genetic disease +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0015997,Rare ophthalmic disorder +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0016251,Rare genetic disease +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0015801,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0015801,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0015806,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0015824,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0015494,Rare genetic disease +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0016160,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0016243,Rare ophthalmic disorder +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0016124,Rare genetic disease +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0015997,Rare neurologic disease +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0016124,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0015494,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0016160,Rare neurologic disease +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0016434,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0015801,Rare neurologic disease +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0015824,Rare neurologic disease +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0015494,Rare ophthalmic disorder +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0016434,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0015550,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0016297,Rare genetic disease +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0016124,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0016195,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0015997,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0016297,Rare genetic disease +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0015806,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0016297,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0016159,Rare ophthalmic disorder +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0015887,Rare neurologic disease +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0016159,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0016434,Rare ophthalmic disorder +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0016160,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0016243,Rare genetic disease +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0015806,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0015801,Rare genetic disease +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0016194,Rare ophthalmic disorder +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0015550,Rare genetic disease +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0016194,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0015765,Rare ophthalmic disorder +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0016434,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0016159,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0015824,Rare genetic disease +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0015824,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0016159,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0016195,Rare genetic disease +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0016243,Rare neurologic disease +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0015765,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0016124,Rare ophthalmic disorder +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0015806,Rare genetic disease +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0016194,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0016124,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0019931,GARD:0015765,Rare genetic disease +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0016195,Rare ophthalmic disorder +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0015997,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0016160,Rare genetic disease +GARD:0006802,GARD:0022520,GARD:0019931,GARD:0015550,Rare ophthalmic disorder +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0015824,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019480,GARD:0015550,Rare neurologic disease +GARD:0006802,GARD:0022513,GARD:0019480,GARD:0015550,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0016297,Rare neurologic disease +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0015801,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019832,GARD:0016251,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0015824,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0015806,Rare genetic disease +GARD:0006802,GARD:0022513,GARD:0019832,GARD:0016251,Rare developmental defect during embryogenesis +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0016434,Rare neurologic disease +GARD:0006802,GARD:0022531,GARD:0021006,GARD:0016243,Rare genetic disease +GARD:0006802,GARD:0022531,GARD:0022441,GARD:0015765,Rare genetic disease +GARD:0006802,GARD:0022524,GARD:0019931,GARD:0016160,Rare neurologic disease +GARD:0006805,GARD:0022517,GARD:0020927,,Rare respiratory disease +GARD:0006805,GARD:0022536,GARD:0020927,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006805,GARD:0022524,GARD:0021496,,Rare neurologic disease +GARD:0006805,GARD:0022510,GARD:0021160,,Rare skin disease +GARD:0006805,GARD:0021079,GARD:0021082,,Rare systemic or rheumatological disease of childhood +GARD:0006805,GARD:0022536,GARD:0022291,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006805,GARD:0022512,GARD:0022291,,Rare renal disease +GARD:0006805,GARD:0022525,GARD:0021496,,Rare systemic or rheumatologic disease +GARD:0006807,GARD:0022513,GARD:0022029,,Rare developmental defect during embryogenesis +GARD:0006807,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0006807,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0006807,GARD:0022531,GARD:0022029,,Rare genetic disease +GARD:0006807,GARD:0022511,GARD:0022029,,Rare bone disease +GARD:0006808,GARD:0022531,GARD:0021278,GARD:0015443,Rare genetic disease +GARD:0006808,GARD:0022524,GARD:0021278,GARD:0016269,Rare neurologic disease +GARD:0006808,GARD:0022531,GARD:0021278,GARD:0016269,Rare genetic disease +GARD:0006808,GARD:0022531,GARD:0002173,GARD:0015513,Rare genetic disease +GARD:0006808,GARD:0022524,GARD:0002173,GARD:0016269,Rare neurologic disease +GARD:0006808,GARD:0022524,GARD:0021278,GARD:0015443,Rare neurologic disease +GARD:0006808,GARD:0022531,GARD:0019574,GARD:0015513,Rare genetic disease +GARD:0006808,GARD:0022531,GARD:0019574,GARD:0015443,Rare genetic disease +GARD:0006808,GARD:0022524,GARD:0021278,GARD:0015784,Rare neurologic disease +GARD:0006808,GARD:0022524,GARD:0021278,GARD:0015513,Rare neurologic disease +GARD:0006808,GARD:0022531,GARD:0021278,GARD:0015784,Rare genetic disease +GARD:0006808,GARD:0022531,GARD:0002173,GARD:0015443,Rare genetic disease +GARD:0006808,GARD:0022524,GARD:0002173,GARD:0015784,Rare neurologic disease +GARD:0006808,GARD:0022524,GARD:0002173,GARD:0015443,Rare neurologic disease +GARD:0006808,GARD:0022524,GARD:0002173,GARD:0015513,Rare neurologic disease +GARD:0006808,GARD:0022531,GARD:0019574,GARD:0016269,Rare genetic disease +GARD:0006808,GARD:0022531,GARD:0021278,GARD:0015513,Rare genetic disease +GARD:0006808,GARD:0022531,GARD:0002173,GARD:0016269,Rare genetic disease +GARD:0006808,GARD:0022531,GARD:0019574,GARD:0015784,Rare genetic disease +GARD:0006808,GARD:0022531,GARD:0002173,GARD:0015784,Rare genetic disease +GARD:0006810,GARD:0022531,GARD:0022441,GARD:0015270,Rare genetic disease +GARD:0006810,GARD:0022513,GARD:0019902,GARD:0015270,Rare developmental defect during embryogenesis +GARD:0006810,GARD:0022513,GARD:0019502,GARD:0015270,Rare developmental defect during embryogenesis +GARD:0006810,GARD:0022531,GARD:0020299,GARD:0015270,Rare genetic disease +GARD:0006810,GARD:0022513,GARD:0019864,GARD:0015270,Rare developmental defect during embryogenesis +GARD:0006810,GARD:0022536,GARD:0019874,GARD:0015270,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006810,GARD:0022524,GARD:0019832,GARD:0015270,Rare neurologic disease +GARD:0006810,GARD:0022531,GARD:0019874,GARD:0015270,Rare genetic disease +GARD:0006810,GARD:0022513,GARD:0019832,GARD:0015270,Rare developmental defect during embryogenesis +GARD:0006810,GARD:0022531,GARD:0019502,GARD:0015270,Rare genetic disease +GARD:0006810,GARD:0022534,GARD:0019874,GARD:0015270,Rare abdominal surgical disease +GARD:0006810,GARD:0022520,GARD:0019502,GARD:0015270,Rare ophthalmic disorder +GARD:0006810,GARD:0022513,GARD:0019874,GARD:0015270,Rare developmental defect during embryogenesis +GARD:0006810,GARD:0022534,GARD:0019864,GARD:0015270,Rare abdominal surgical disease +GARD:0006810,GARD:0022518,GARD:0020212,GARD:0015270,Rare surgical thoracic disease +GARD:0006814,GARD:0022535,GARD:0020458,GARD:0015080,Rare neoplastic disease +GARD:0006814,GARD:0022513,GARD:0020458,GARD:0015080,Rare developmental defect during embryogenesis +GARD:0006814,GARD:0022535,GARD:0019830,GARD:0015080,Rare neoplastic disease +GARD:0006814,GARD:0022535,GARD:0004898,GARD:0015080,Rare neoplastic disease +GARD:0006814,GARD:0022527,GARD:0020458,GARD:0015080,Rare circulatory system disease +GARD:0006816,GARD:0021079,GARD:0021081,,Rare systemic or rheumatological disease of childhood +GARD:0006816,GARD:0022525,GARD:0019982,,Rare systemic or rheumatologic disease +GARD:0006816,GARD:0022527,GARD:0019982,,Rare circulatory system disease +GARD:0006817,GARD:0022520,GARD:0022118,,Rare ophthalmic disorder +GARD:0006817,GARD:0022536,GARD:0020527,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006817,GARD:0022531,GARD:0020556,,Rare genetic disease +GARD:0006817,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0006817,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0006817,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0006817,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0006817,GARD:0022531,GARD:0020755,,Rare genetic disease +GARD:0006817,GARD:0022531,GARD:0020223,,Rare genetic disease +GARD:0006817,GARD:0022531,GARD:0020527,,Rare genetic disease +GARD:0006817,GARD:0022524,GARD:0020556,,Rare neurologic disease +GARD:0006817,GARD:0022521,GARD:0020223,,Rare endocrine disease +GARD:0006817,GARD:0022508,GARD:0020755,,Rare inborn errors of metabolism +GARD:0006817,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0006817,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0006817,GARD:0022524,GARD:0020555,,Rare neurologic disease +GARD:0006817,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0006817,GARD:0022515,GARD:0020527,,Rare cardiac disease +GARD:0006817,GARD:0022531,GARD:0022158,,Rare genetic disease +GARD:0006817,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0006817,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0006817,GARD:0022531,GARD:0020555,,Rare genetic disease +GARD:0006818,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0006818,GARD:0022531,GARD:0020367,,Rare genetic disease +GARD:0006818,GARD:0022524,GARD:0020367,,Rare neurologic disease +GARD:0006818,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0006818,GARD:0022531,GARD:0021672,,Rare genetic disease +GARD:0006818,GARD:0022529,GARD:0021672,,Rare infertility +GARD:0006821,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0006821,GARD:0022535,GARD:0008533,,Rare neoplastic disease +GARD:0006821,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0006821,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0006821,GARD:0022516,GARD:0008533,,Rare gastroenterologic disease +GARD:0006821,GARD:0022531,GARD:0008533,,Rare genetic disease +GARD:0006829,GARD:0022531,GARD:0018694,GARD:0015586,Rare genetic disease +GARD:0006829,GARD:0022510,GARD:0018694,GARD:0015586,Rare skin disease +GARD:0006829,GARD:0022531,GARD:0018694,GARD:0015299,Rare genetic disease +GARD:0006829,GARD:0022510,GARD:0018694,GARD:0015299,Rare skin disease +GARD:0006830,GARD:0022524,GARD:0018890,GARD:0022197,Rare neurologic disease +GARD:0006830,GARD:0022508,GARD:0021347,GARD:0022198,Rare inborn errors of metabolism +GARD:0006830,GARD:0022508,GARD:0021347,GARD:0022197,Rare inborn errors of metabolism +GARD:0006830,GARD:0022524,GARD:0018890,GARD:0022198,Rare neurologic disease +GARD:0006834,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0006835,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0006840,GARD:0022524,GARD:0019433,,Rare neurologic disease +GARD:0006840,GARD:0022509,GARD:0019433,,Rare infectious disease +GARD:0006840,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0006841,GARD:0022528,GARD:0019894,,Rare otorhinolaryngologic disease +GARD:0006841,GARD:0022531,GARD:0019894,,Rare genetic disease +GARD:0006841,GARD:0022507,GARD:0019894,,Rare maxillo-facial surgical disease +GARD:0006841,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0006841,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0006841,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0006841,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0006841,GARD:0022513,GARD:0019894,,Rare developmental defect during embryogenesis +GARD:0006842,GARD:0022511,GARD:0012704,,Rare bone disease +GARD:0006842,GARD:0022525,GARD:0012704,,Rare systemic or rheumatologic disease +GARD:0006844,GARD:0022520,GARD:0021845,GARD:0020343,Rare ophthalmic disorder +GARD:0006844,GARD:0022531,GARD:0007672,GARD:0020345,Rare genetic disease +GARD:0006844,GARD:0022531,GARD:0021845,GARD:0020344,Rare genetic disease +GARD:0006844,GARD:0022524,GARD:0006895,GARD:0020344,Rare neurologic disease +GARD:0006844,GARD:0022524,GARD:0020240,GARD:0020344,Rare neurologic disease +GARD:0006844,GARD:0022531,GARD:0020280,GARD:0020345,Rare genetic disease +GARD:0006844,GARD:0022531,GARD:0006895,GARD:0020344,Rare genetic disease +GARD:0006844,GARD:0022531,GARD:0021845,GARD:0020345,Rare genetic disease +GARD:0006844,GARD:0022524,GARD:0021615,GARD:0020343,Rare neurologic disease +GARD:0006844,GARD:0022524,GARD:0018890,GARD:0020345,Rare neurologic disease +GARD:0006844,GARD:0022520,GARD:0021845,GARD:0020345,Rare ophthalmic disorder +GARD:0006844,GARD:0022531,GARD:0018890,GARD:0020345,Rare genetic disease +GARD:0006844,GARD:0022524,GARD:0018890,GARD:0020344,Rare neurologic disease +GARD:0006844,GARD:0022531,GARD:0020280,GARD:0020343,Rare genetic disease +GARD:0006844,GARD:0022531,GARD:0007672,GARD:0020343,Rare genetic disease +GARD:0006844,GARD:0022536,GARD:0007672,GARD:0020343,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006844,GARD:0022536,GARD:0007672,GARD:0020345,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006844,GARD:0022508,GARD:0007672,GARD:0020344,Rare inborn errors of metabolism +GARD:0006844,GARD:0022531,GARD:0021615,GARD:0020344,Rare genetic disease +GARD:0006844,GARD:0022531,GARD:0021615,GARD:0020345,Rare genetic disease +GARD:0006844,GARD:0022508,GARD:0007672,GARD:0020343,Rare inborn errors of metabolism +GARD:0006844,GARD:0022524,GARD:0021615,GARD:0020345,Rare neurologic disease +GARD:0006844,GARD:0022531,GARD:0021845,GARD:0020343,Rare genetic disease +GARD:0006844,GARD:0022524,GARD:0006895,GARD:0020345,Rare neurologic disease +GARD:0006844,GARD:0022524,GARD:0020240,GARD:0020343,Rare neurologic disease +GARD:0006844,GARD:0022524,GARD:0018890,GARD:0020343,Rare neurologic disease +GARD:0006844,GARD:0022531,GARD:0021615,GARD:0020343,Rare genetic disease +GARD:0006844,GARD:0022531,GARD:0007672,GARD:0020344,Rare genetic disease +GARD:0006844,GARD:0022531,GARD:0006895,GARD:0020345,Rare genetic disease +GARD:0006844,GARD:0022536,GARD:0007672,GARD:0020344,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006844,GARD:0022524,GARD:0006895,GARD:0020343,Rare neurologic disease +GARD:0006844,GARD:0022524,GARD:0021615,GARD:0020344,Rare neurologic disease +GARD:0006844,GARD:0022531,GARD:0020280,GARD:0020344,Rare genetic disease +GARD:0006844,GARD:0022520,GARD:0021845,GARD:0020344,Rare ophthalmic disorder +GARD:0006844,GARD:0022508,GARD:0007672,GARD:0020345,Rare inborn errors of metabolism +GARD:0006844,GARD:0022531,GARD:0018890,GARD:0020343,Rare genetic disease +GARD:0006844,GARD:0022524,GARD:0020240,GARD:0020345,Rare neurologic disease +GARD:0006844,GARD:0022531,GARD:0006895,GARD:0020343,Rare genetic disease +GARD:0006844,GARD:0022531,GARD:0018890,GARD:0020344,Rare genetic disease +GARD:0006845,GARD:0022524,GARD:0010973,,Rare neurologic disease +GARD:0006845,GARD:0022531,GARD:0010973,,Rare genetic disease +GARD:0006845,GARD:0022508,GARD:0010973,,Rare inborn errors of metabolism +GARD:0006845,GARD:0022520,GARD:0010973,,Rare ophthalmic disorder +GARD:0006848,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0006848,GARD:0022520,GARD:0019512,,Rare ophthalmic disorder +GARD:0006848,GARD:0022510,GARD:0019512,,Rare skin disease +GARD:0006848,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0006848,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0006848,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0006848,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0006848,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0006848,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0006848,GARD:0022531,GARD:0021810,,Rare genetic disease +GARD:0006848,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0006848,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0006848,GARD:0022531,GARD:0019512,,Rare genetic disease +GARD:0006848,GARD:0022513,GARD:0019512,,Rare developmental defect during embryogenesis +GARD:0006848,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0006851,GARD:0022524,GARD:0007326,,Rare neurologic disease +GARD:0006851,GARD:0022524,GARD:0019575,,Rare neurologic disease +GARD:0006851,GARD:0022524,GARD:0021933,,Rare neurologic disease +GARD:0006855,GARD:0022524,GARD:0019437,,Rare neurologic disease +GARD:0006855,GARD:0022531,GARD:0019437,,Rare genetic disease +GARD:0006858,GARD:0022522,GARD:0008317,,Rare hematologic disease +GARD:0006858,GARD:0022536,GARD:0008317,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006858,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0006858,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0006858,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006858,GARD:0022535,GARD:0008317,,Rare neoplastic disease +GARD:0006859,GARD:0022531,GARD:0003924,,Rare genetic disease +GARD:0006859,GARD:0022521,GARD:0003924,,Rare endocrine disease +GARD:0006860,GARD:0022531,GARD:0019190,,Rare genetic disease +GARD:0006860,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0006860,GARD:0022531,GARD:0019905,,Rare genetic disease +GARD:0006860,GARD:0022513,GARD:0019905,,Rare developmental defect during embryogenesis +GARD:0006860,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0006860,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0006860,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0006860,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0006860,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0006860,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0006865,GARD:0022531,GARD:0021811,,Rare genetic disease +GARD:0006865,GARD:0022513,GARD:0020001,,Rare developmental defect during embryogenesis +GARD:0006865,GARD:0022528,GARD:0020001,,Rare otorhinolaryngologic disease +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0000823,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0010205,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0016193,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0016193,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0016193,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0010209,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0000821,Rare gastroenterologic disease +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0016040,Rare neurologic disease +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0000820,Rare ophthalmic disorder +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0010205,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0016038,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0016040,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0016226,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0000823,Rare gastroenterologic disease +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0010211,Rare ophthalmic disorder +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0010205,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0016041,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0016041,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0010210,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0016226,Rare endocrine disease +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0010210,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0016040,Rare genetic disease +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0010206,Rare abdominal surgical disease +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0016038,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0016043,Rare genetic disease +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0000820,Rare gastroenterologic disease 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indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0016193,Rare ophthalmic disorder +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0016042,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0010209,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0016043,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0016043,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0010205,Rare gastroenterologic disease +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0010208,Rare infertility +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0010204,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0016193,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0010207,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0016193,Rare infertility +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0016042,Rare genetic disease +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0010211,Rare abdominal surgical disease +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0000820,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0016226,Rare genetic disease +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0010204,Rare abdominal surgical disease +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0016043,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0016038,Rare gastroenterologic disease +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0010207,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0010209,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0016039,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0010206,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0016040,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0010204,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0016040,Rare genetic disease +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0016038,Rare infertility +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0000823,Rare genetic disease +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0016037,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0000823,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0016041,Rare genetic disease +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0000823,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0016193,Rare genetic disease +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0000821,Rare neurologic disease +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0016040,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0010209,Rare genetic disease +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0016226,Rare neurologic disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0016037,Rare genetic disease +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0010204,Rare renal disease +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0016038,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0010209,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0010205,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0010209,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0010211,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0000822,Rare genetic disease +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0010211,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0000822,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0010204,Rare genetic disease +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0010210,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0016039,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0010206,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0016043,Rare genetic disease +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0010204,Rare endocrine disease +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0010205,Rare infertility +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0016037,Rare renal disease +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0010206,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0010207,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0016039,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0000823,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0010211,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0010205,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0010208,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0016043,Rare ophthalmic disorder +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0010204,Rare genetic disease +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0016226,Rare renal disease +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0010207,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0016037,Rare neurologic disease +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0000820,Rare infertility +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0010209,Rare gastroenterologic disease +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0010205,Rare infertility +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0000821,Rare genetic disease +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0000822,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0000820,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0010211,Rare genetic disease +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0010211,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0010206,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0010208,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0010208,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0016039,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0000820,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0010209,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0010207,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0016193,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0010206,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0010210,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0010211,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0010204,Rare genetic disease +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0010205,Rare abdominal surgical disease +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0016037,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0016037,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0016040,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0010211,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0016040,Rare genetic disease +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0016193,Rare renal disease +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0016038,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0000821,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0000821,Rare endocrine disease +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0010209,Rare infertility +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0000820,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0016041,Rare genetic disease +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0010209,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0010204,Rare genetic disease +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0016040,Rare gastroenterologic disease +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0000822,Rare endocrine disease +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0016226,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0016039,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0016041,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0016040,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0016041,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0016038,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0010208,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0016226,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0016041,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0016039,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0016193,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0010206,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0010207,Rare gastroenterologic disease +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0016037,Rare infertility +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0010211,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0010204,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0016040,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0010207,Rare neurologic disease +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0000821,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0016039,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0000822,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0010208,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0000820,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0016039,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0000822,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0010206,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0016038,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0016041,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0016040,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0016039,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0016043,Rare gastroenterologic disease +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0016043,Rare neurologic disease +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0010211,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0010210,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0010205,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0010210,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0016043,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0016038,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0010208,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0000823,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0016042,Rare endocrine disease +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0010207,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0016039,Rare genetic disease +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0010209,Rare neurologic disease +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0000823,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0016193,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0016041,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0010205,Rare genetic disease +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0016226,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0016040,Rare ophthalmic disorder +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0000821,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0010210,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0010206,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0010206,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0016039,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0010209,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0010206,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0000820,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0010208,Rare neurologic disease +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0010208,Rare gastroenterologic disease +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0010207,Rare genetic disease +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0010209,Rare abdominal surgical disease +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0010211,Rare genetic disease +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0010206,Rare renal disease +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0016193,Rare gastroenterologic disease +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0016193,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0016037,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0000823,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0010204,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0010205,Rare genetic disease +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0016042,Rare endocrine disease +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0010205,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0000822,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0016041,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0000821,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0016039,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0016193,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0016039,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0016043,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0010205,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0010209,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0000820,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0016039,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0010204,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0016042,Rare genetic disease +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0016038,Rare renal disease +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0010209,Rare renal disease +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0016042,Rare neurologic disease 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+GARD:0006866,GARD:0022536,GARD:0022061,GARD:0000822,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0016042,Rare gastroenterologic disease +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0010208,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0000820,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0000821,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0000820,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0000822,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0000821,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0016193,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0016038,Rare genetic disease +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0010211,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0010205,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0010204,Rare genetic disease +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0010208,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0000823,Rare neurologic disease +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0010211,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0010211,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0000823,Rare genetic disease +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0000823,Rare abdominal surgical disease +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0010208,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0010204,Rare ophthalmic disorder +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0016193,Rare abdominal surgical disease +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0016037,Rare genetic disease 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+GARD:0006866,GARD:0022534,GARD:0022248,GARD:0016043,Rare abdominal surgical disease +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0016226,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0016038,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0000822,Rare gastroenterologic disease +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0016043,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0016193,Rare neurologic disease +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0000821,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0016043,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0016193,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0010211,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0016039,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0010207,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0000821,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0016193,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0016042,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0010210,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0016037,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0000821,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0010210,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0016039,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0010204,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0010210,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0010209,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0010205,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0016038,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0016038,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0000821,Rare genetic disease +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0016037,Rare ophthalmic disorder +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0016038,Rare endocrine disease +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0010205,Rare neurologic disease +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0010208,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0016040,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0016042,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0000820,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0016043,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0016226,Rare ophthalmic disorder +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0016043,Rare infertility +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0000822,Rare abdominal surgical disease +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0016042,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0010204,Rare genetic disease +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0016043,Rare infertility +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0010204,Rare infertility +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0016226,Rare genetic disease +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0010208,Rare renal disease +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0000821,Rare renal disease +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0010208,Rare infertility +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0016043,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0010205,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0000823,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0000820,Rare neurologic disease +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0010210,Rare infertility +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0010210,Rare gastroenterologic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0016041,Rare genetic disease +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0016226,Rare infertility +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0016040,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0000823,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0016042,Rare genetic disease +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0000823,Rare renal disease +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0016041,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0000820,Rare genetic disease +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0016193,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0016039,Rare gastroenterologic disease +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0010211,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0010208,Rare genetic disease +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0016038,Rare endocrine disease +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0010208,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0010208,Rare genetic disease +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0010210,Rare abdominal surgical disease +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0016037,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0016042,Rare renal disease +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0000821,Rare ophthalmic disorder +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0010208,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0010211,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0016042,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0016038,Rare genetic disease +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0016040,Rare abdominal surgical disease +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0010206,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0000820,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0010206,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0016039,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0016042,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0000822,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0016041,Rare infertility +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0000820,Rare genetic disease +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0016037,Rare abdominal surgical disease +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0000821,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0016043,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0010207,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0000821,Rare genetic disease +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0010208,Rare abdominal surgical disease +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0016040,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0016226,Rare genetic disease +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0016038,Rare abdominal surgical disease +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0010206,Rare endocrine disease +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0016040,Rare endocrine disease +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0016041,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0010205,Rare endocrine disease +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0016039,Rare neurologic disease +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0010210,Rare neurologic disease +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0010207,Rare genetic disease +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0000823,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0016038,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0010204,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0010204,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0016037,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0010205,Rare genetic disease +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0016041,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0016193,Rare infertility +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0010206,Rare gastroenterologic disease +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0010204,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0000821,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0010209,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0016037,Rare endocrine disease +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0016037,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0016038,Rare ophthalmic disorder +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0016039,Rare endocrine disease +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0016043,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0016042,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0010208,Rare ophthalmic disorder +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0000822,Rare neurologic disease +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0010210,Rare genetic disease +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0000820,Rare renal disease +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0000822,Rare genetic disease +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0000821,Rare abdominal surgical disease +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0010207,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0010206,Rare genetic disease +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0000820,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0016226,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0000822,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0010207,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0016039,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0010207,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0010211,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0000820,Rare endocrine disease +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0016042,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0010210,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0010206,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0016040,Rare renal disease +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0010210,Rare renal disease +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0016037,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0010210,Rare genetic disease +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0000822,Rare ophthalmic disorder +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0010207,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0016226,Rare genetic disease +GARD:0006866,GARD:0022521,GARD:0020219,GARD:0016037,Rare endocrine disease +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0016042,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0010209,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0010211,Rare gastroenterologic disease +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0010206,Rare neurologic disease +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0016226,Rare infertility +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0016042,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0010209,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0010207,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0016037,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0000823,Rare genetic disease +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0010204,Rare gastroenterologic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0016193,Rare genetic disease +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0000821,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0016042,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0010205,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0016040,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022441,GARD:0016037,Rare genetic disease +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0010204,Rare neurologic disease +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0000820,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0010207,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0022061,GARD:0016193,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0010208,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0016043,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0016041,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0016039,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0016040,Rare genetic disease +GARD:0006866,GARD:0022516,GARD:0019846,GARD:0016226,Rare gastroenterologic disease +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0016041,Rare endocrine disease +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0010209,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0016226,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0016226,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0016041,Rare genetic disease +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0010206,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0010208,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019992,GARD:0010206,Rare genetic disease +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0016043,Rare renal disease +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0016040,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022513,GARD:0022248,GARD:0016041,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0016040,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0010210,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0000821,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0016038,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0016037,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0000823,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0010205,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0010205,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0016037,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0010210,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0010210,Rare infertility +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0010206,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0016040,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0021680,GARD:0000823,Rare genetic disease +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0000821,Rare endocrine disease +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0010209,Rare ophthalmic disorder +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0010209,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0000822,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0016038,Rare genetic disease +GARD:0006866,GARD:0022529,GARD:0021680,GARD:0000823,Rare infertility +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0010210,Rare ophthalmic disorder +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0016039,Rare renal disease +GARD:0006866,GARD:0022531,GARD:0019228,GARD:0016043,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0010210,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0000822,Rare genetic disease +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0010207,Rare abdominal surgical disease +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0010205,Rare renal disease +GARD:0006866,GARD:0022513,GARD:0019832,GARD:0010204,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022514,GARD:0020219,GARD:0000823,Rare gynecologic or obstetric disease +GARD:0006866,GARD:0022529,GARD:0020219,GARD:0000823,Rare infertility +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0010209,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0022248,GARD:0016226,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0016043,Rare genetic disease +GARD:0006866,GARD:0022534,GARD:0022248,GARD:0000820,Rare abdominal surgical disease +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0010207,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020219,GARD:0016041,Rare genetic disease +GARD:0006866,GARD:0022524,GARD:0019832,GARD:0010211,Rare neurologic disease +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0010209,Rare genetic disease +GARD:0006866,GARD:0022520,GARD:0019538,GARD:0010207,Rare ophthalmic disorder +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0016037,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0000821,Rare genetic disease +GARD:0006866,GARD:0022512,GARD:0019228,GARD:0000822,Rare renal disease +GARD:0006866,GARD:0022513,GARD:0020650,GARD:0010204,Rare developmental defect during embryogenesis +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0000821,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0020650,GARD:0010205,Rare genetic disease +GARD:0006866,GARD:0022521,GARD:0020650,GARD:0010210,Rare endocrine disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0016040,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019538,GARD:0010207,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019986,GARD:0016043,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0022248,GARD:0016042,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0016043,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006866,GARD:0022531,GARD:0019846,GARD:0016226,Rare genetic disease +GARD:0006866,GARD:0022531,GARD:0019993,GARD:0016037,Rare genetic disease +GARD:0006866,GARD:0022536,GARD:0019846,GARD:0010210,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006867,GARD:0022508,GARD:0021319,,Rare inborn errors of metabolism +GARD:0006867,GARD:0022515,GARD:0020522,,Rare cardiac disease +GARD:0006867,GARD:0022521,GARD:0020223,,Rare endocrine disease +GARD:0006867,GARD:0022531,GARD:0020522,,Rare genetic disease +GARD:0006867,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0006867,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0006867,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0006867,GARD:0022536,GARD:0020522,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006867,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0006867,GARD:0022531,GARD:0021319,,Rare genetic disease +GARD:0006867,GARD:0022531,GARD:0020223,,Rare genetic disease +GARD:0006870,GARD:0022536,GARD:0020521,GARD:0015300,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006870,GARD:0022536,GARD:0020527,GARD:0015300,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006870,GARD:0022520,GARD:0019540,GARD:0015300,Rare ophthalmic disorder +GARD:0006870,GARD:0022531,GARD:0020527,GARD:0015300,Rare genetic disease +GARD:0006870,GARD:0022508,GARD:0020756,GARD:0015300,Rare inborn errors of metabolism +GARD:0006870,GARD:0022515,GARD:0020521,GARD:0015300,Rare cardiac disease +GARD:0006870,GARD:0022531,GARD:0020756,GARD:0015300,Rare genetic disease +GARD:0006870,GARD:0022515,GARD:0020527,GARD:0015300,Rare cardiac disease +GARD:0006870,GARD:0022531,GARD:0019540,GARD:0015300,Rare genetic disease +GARD:0006870,GARD:0022531,GARD:0020521,GARD:0015300,Rare genetic disease +GARD:0006873,GARD:0022510,GARD:0020328,,Rare skin disease +GARD:0006873,GARD:0022535,GARD:0020328,,Rare neoplastic disease +GARD:0006874,GARD:0022525,GARD:0012704,,Rare systemic or rheumatologic disease +GARD:0006874,GARD:0022511,GARD:0012704,,Rare bone disease +GARD:0006874,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0006876,GARD:0022509,GARD:0022419,,Rare infectious disease +GARD:0006877,GARD:0022531,GARD:0019546,GARD:0017238,Rare genetic disease +GARD:0006877,GARD:0022531,GARD:0018771,GARD:0008370,Rare genetic disease +GARD:0006877,GARD:0022508,GARD:0018771,GARD:0016685,Rare inborn errors of metabolism +GARD:0006877,GARD:0022508,GARD:0018771,GARD:0017239,Rare inborn errors of metabolism +GARD:0006877,GARD:0022531,GARD:0020556,GARD:0016685,Rare genetic disease +GARD:0006877,GARD:0022531,GARD:0018890,GARD:0008370,Rare genetic disease +GARD:0006877,GARD:0022531,GARD:0020555,GARD:0017238,Rare genetic disease +GARD:0006877,GARD:0022524,GARD:0018890,GARD:0017239,Rare neurologic disease +GARD:0006877,GARD:0022524,GARD:0020556,GARD:0017238,Rare neurologic disease +GARD:0006877,GARD:0022531,GARD:0019546,GARD:0016685,Rare genetic disease +GARD:0006877,GARD:0022524,GARD:0018890,GARD:0017238,Rare neurologic disease +GARD:0006877,GARD:0022531,GARD:0020556,GARD:0008370,Rare genetic disease +GARD:0006877,GARD:0022520,GARD:0019546,GARD:0016685,Rare ophthalmic disorder +GARD:0006877,GARD:0022524,GARD:0020556,GARD:0017239,Rare neurologic disease +GARD:0006877,GARD:0022531,GARD:0019546,GARD:0017239,Rare genetic disease +GARD:0006877,GARD:0022524,GARD:0020555,GARD:0017239,Rare neurologic disease +GARD:0006877,GARD:0022524,GARD:0020556,GARD:0016685,Rare neurologic disease +GARD:0006877,GARD:0022531,GARD:0020556,GARD:0017238,Rare genetic disease +GARD:0006877,GARD:0022524,GARD:0020555,GARD:0008370,Rare neurologic disease +GARD:0006877,GARD:0022531,GARD:0018771,GARD:0016685,Rare genetic disease +GARD:0006877,GARD:0022531,GARD:0019546,GARD:0008370,Rare genetic disease +GARD:0006877,GARD:0022531,GARD:0018771,GARD:0017238,Rare genetic disease +GARD:0006877,GARD:0022531,GARD:0018890,GARD:0017239,Rare genetic disease +GARD:0006877,GARD:0022524,GARD:0018890,GARD:0016685,Rare neurologic disease +GARD:0006877,GARD:0022524,GARD:0020555,GARD:0016685,Rare neurologic disease +GARD:0006877,GARD:0022531,GARD:0018890,GARD:0016685,Rare genetic disease +GARD:0006877,GARD:0022508,GARD:0018771,GARD:0017238,Rare inborn errors of metabolism +GARD:0006877,GARD:0022531,GARD:0018771,GARD:0017239,Rare genetic disease +GARD:0006877,GARD:0022531,GARD:0020556,GARD:0017239,Rare genetic disease +GARD:0006877,GARD:0022524,GARD:0020556,GARD:0008370,Rare neurologic disease +GARD:0006877,GARD:0022508,GARD:0018771,GARD:0008370,Rare inborn errors of metabolism +GARD:0006877,GARD:0022520,GARD:0019546,GARD:0017239,Rare ophthalmic disorder +GARD:0006877,GARD:0022531,GARD:0020555,GARD:0008370,Rare genetic disease +GARD:0006877,GARD:0022531,GARD:0020555,GARD:0017239,Rare genetic disease +GARD:0006877,GARD:0022531,GARD:0018890,GARD:0017238,Rare genetic disease +GARD:0006877,GARD:0022531,GARD:0020555,GARD:0016685,Rare genetic disease +GARD:0006877,GARD:0022524,GARD:0018890,GARD:0008370,Rare neurologic disease +GARD:0006877,GARD:0022520,GARD:0019546,GARD:0017238,Rare ophthalmic disorder +GARD:0006877,GARD:0022524,GARD:0020555,GARD:0017238,Rare neurologic disease +GARD:0006877,GARD:0022520,GARD:0019546,GARD:0008370,Rare ophthalmic disorder +GARD:0006878,GARD:0022510,GARD:0019019,,Rare skin disease +GARD:0006878,GARD:0022531,GARD:0020278,,Rare genetic disease +GARD:0006880,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0006880,GARD:0022535,GARD:0021149,,Rare neoplastic disease +GARD:0006881,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0006882,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0006885,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0006885,GARD:0022531,GARD:0018996,,Rare genetic disease +GARD:0006885,GARD:0022521,GARD:0020214,,Rare endocrine disease +GARD:0006885,GARD:0022510,GARD:0018996,,Rare skin disease +GARD:0006885,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0006885,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0006885,GARD:0022531,GARD:0020214,,Rare genetic disease +GARD:0006885,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0006886,GARD:0022529,GARD:0021677,GARD:0015415,Rare infertility +GARD:0006886,GARD:0022524,GARD:0020357,GARD:0015504,Rare neurologic disease +GARD:0006886,GARD:0022509,GARD:0020044,GARD:0015504,Rare infectious disease +GARD:0006886,GARD:0022529,GARD:0021677,GARD:0015192,Rare infertility +GARD:0006886,GARD:0022509,GARD:0020044,GARD:0015632,Rare infectious disease +GARD:0006886,GARD:0022524,GARD:0020357,GARD:0015415,Rare neurologic disease +GARD:0006886,GARD:0022524,GARD:0020357,GARD:0015632,Rare neurologic disease +GARD:0006886,GARD:0022529,GARD:0021677,GARD:0015504,Rare infertility +GARD:0006886,GARD:0022509,GARD:0020044,GARD:0015659,Rare infectious disease +GARD:0006886,GARD:0022524,GARD:0020357,GARD:0015192,Rare neurologic disease +GARD:0006886,GARD:0022529,GARD:0021677,GARD:0015659,Rare infertility +GARD:0006886,GARD:0022524,GARD:0020357,GARD:0015659,Rare neurologic disease +GARD:0006886,GARD:0022509,GARD:0020044,GARD:0015415,Rare infectious disease +GARD:0006886,GARD:0022509,GARD:0020044,GARD:0015192,Rare infectious disease +GARD:0006886,GARD:0022529,GARD:0021677,GARD:0015632,Rare infertility +GARD:0006893,GARD:0022520,GARD:0016616,,Rare ophthalmic disorder +GARD:0006893,GARD:0022531,GARD:0016616,,Rare genetic disease +GARD:0006893,GARD:0022523,GARD:0016616,,Rare immune disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0017936,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0017747,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0003231,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0005622,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0005774,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0003230,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0010327,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0011980,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0013199,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0001813,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0000575,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0006844,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0022405,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0000231,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0010587,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0000575,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0017809,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0005758,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0011890,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0017554,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0012893,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0017964,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0005774,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0019918,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0021140,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0000231,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0012300,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0009921,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0004891,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0018018,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0012472,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0017004,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0017964,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0010981,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0003445,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0004923,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0022405,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0018025,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0012893,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0012471,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0012300,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0004923,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0018025,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0010917,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0017837,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0019917,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0017747,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0013199,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0010327,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0017004,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0017910,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0021819,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0017910,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0003230,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0012472,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0010917,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0017565,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0017809,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0017734,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0005691,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0005622,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0005984,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0017936,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0010981,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0004891,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0018018,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0012652,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0017734,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0004265,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0005691,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0022246,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0019918,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0022246,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0003231,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0010587,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0009921,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0017565,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0006844,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0019917,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0021819,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0012471,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0005758,Rare genetic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0003445,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0017554,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0001813,Rare neurologic disease +GARD:0006895,GARD:0022531,GARD:0018915,GARD:0004265,Rare genetic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0011980,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0017837,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0012652,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0021140,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0011890,Rare neurologic disease +GARD:0006895,GARD:0022524,GARD:0022524,GARD:0005984,Rare neurologic disease +GARD:0006901,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0006901,GARD:0022535,GARD:0012800,,Rare neoplastic disease +GARD:0006901,GARD:0022524,GARD:0020728,,Rare neurologic disease +GARD:0006901,GARD:0022531,GARD:0012800,,Rare genetic disease +GARD:0006901,GARD:0022510,GARD:0012800,,Rare skin disease +GARD:0006901,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0006901,GARD:0022535,GARD:0020728,,Rare neoplastic disease +GARD:0006901,GARD:0022513,GARD:0012800,,Rare developmental defect during embryogenesis +GARD:0006901,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0006902,GARD:0022524,GARD:0020742,GARD:0016263,Rare neurologic disease +GARD:0006902,GARD:0022531,GARD:0022461,GARD:0016263,Rare genetic disease +GARD:0006902,GARD:0022535,GARD:0022461,GARD:0016263,Rare neoplastic disease +GARD:0006902,GARD:0022521,GARD:0021388,GARD:0016263,Rare endocrine disease +GARD:0006906,GARD:0022536,GARD:0019073,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006906,GARD:0022535,GARD:0019073,,Rare neoplastic disease +GARD:0006906,GARD:0022522,GARD:0019073,,Rare hematologic disease +GARD:0006906,GARD:0022512,GARD:0019073,,Rare renal disease +GARD:0006907,GARD:0022524,GARD:0020360,GARD:0019825,Rare neurologic disease +GARD:0006907,GARD:0022531,GARD:0020360,GARD:0019824,Rare genetic disease +GARD:0006907,GARD:0022524,GARD:0020360,GARD:0019824,Rare neurologic disease +GARD:0006907,GARD:0022531,GARD:0020360,GARD:0019825,Rare genetic disease +GARD:0006913,GARD:0022535,GARD:0004898,GARD:0019719,Rare neoplastic disease +GARD:0006913,GARD:0022535,GARD:0004898,GARD:0007157,Rare neoplastic disease +GARD:0006913,GARD:0022535,GARD:0004898,GARD:0019720,Rare neoplastic disease +GARD:0006913,GARD:0022535,GARD:0004898,GARD:0019721,Rare neoplastic disease +GARD:0006914,GARD:0022524,GARD:0005049,,Rare neurologic disease +GARD:0006914,GARD:0022513,GARD:0005049,,Rare developmental defect during embryogenesis +GARD:0006914,GARD:0022531,GARD:0005049,,Rare genetic disease +GARD:0006915,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0006919,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0006940,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0006943,GARD:0022536,GARD:0003178,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006943,GARD:0022535,GARD:0021147,,Rare neoplastic disease +GARD:0006943,GARD:0022522,GARD:0003178,,Rare hematologic disease +GARD:0006943,GARD:0022535,GARD:0003178,,Rare neoplastic disease +GARD:0006944,GARD:0022522,GARD:0018697,,Rare hematologic disease +GARD:0006944,GARD:0022510,GARD:0018697,,Rare skin disease +GARD:0006944,GARD:0022535,GARD:0018697,,Rare neoplastic disease +GARD:0006944,GARD:0022536,GARD:0018697,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006950,GARD:0022531,GARD:0022209,,Rare genetic disease +GARD:0006950,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0006950,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0006950,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0006950,GARD:0022531,GARD:0020273,,Rare genetic disease +GARD:0006950,GARD:0022527,GARD:0021914,,Rare circulatory system disease +GARD:0006950,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0006950,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0006950,GARD:0022531,GARD:0021914,,Rare genetic disease +GARD:0006950,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0006950,GARD:0022513,GARD:0021914,,Rare developmental defect during embryogenesis +GARD:0006950,GARD:0022513,GARD:0022209,,Rare developmental defect during embryogenesis +GARD:0006951,GARD:0022513,GARD:0021185,GARD:0021230,Rare developmental defect during embryogenesis +GARD:0006951,GARD:0022531,GARD:0021185,GARD:0021230,Rare genetic disease +GARD:0006951,GARD:0022531,GARD:0021185,GARD:0021229,Rare genetic disease +GARD:0006951,GARD:0022513,GARD:0021185,GARD:0021229,Rare developmental defect during embryogenesis +GARD:0006953,GARD:0022520,GARD:0019519,,Rare ophthalmic disorder +GARD:0006953,GARD:0022531,GARD:0019519,,Rare genetic disease +GARD:0006956,GARD:0022524,GARD:0022327,,Rare neurologic disease +GARD:0006956,GARD:0022524,GARD:0021267,,Rare neurologic disease +GARD:0006957,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0006957,GARD:0022531,GARD:0020275,,Rare genetic disease +GARD:0006958,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0006958,GARD:0022531,GARD:0020289,,Rare genetic disease +GARD:0006958,GARD:0022531,GARD:0021922,,Rare genetic disease +GARD:0006958,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0006958,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0006958,GARD:0022535,GARD:0018892,,Rare neoplastic disease +GARD:0006958,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0006958,GARD:0022511,GARD:0018892,,Rare bone disease +GARD:0006958,GARD:0022531,GARD:0020273,,Rare genetic disease +GARD:0006958,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0006958,GARD:0022527,GARD:0020465,,Rare circulatory system disease +GARD:0006958,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0006958,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0006958,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0006958,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0006958,GARD:0022513,GARD:0020465,,Rare developmental defect during embryogenesis +GARD:0006958,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0006959,GARD:0022528,GARD:0022528,,Rare otorhinolaryngologic disease +GARD:0006960,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0006961,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0006963,GARD:0022535,GARD:0020547,,Rare neoplastic disease +GARD:0006963,GARD:0022511,GARD:0020547,,Rare bone disease +GARD:0006963,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0006964,GARD:0022524,GARD:0019567,GARD:0003366,Rare neurologic disease +GARD:0006964,GARD:0022524,GARD:0021937,GARD:0003364,Rare neurologic disease +GARD:0006964,GARD:0022531,GARD:0019567,GARD:0003367,Rare genetic disease +GARD:0006964,GARD:0022531,GARD:0019567,GARD:0003366,Rare genetic disease +GARD:0006964,GARD:0022524,GARD:0019567,GARD:0003363,Rare neurologic disease +GARD:0006964,GARD:0022524,GARD:0019567,GARD:0003368,Rare neurologic disease +GARD:0006964,GARD:0022524,GARD:0021937,GARD:0003363,Rare neurologic disease +GARD:0006964,GARD:0022531,GARD:0019567,GARD:0003363,Rare genetic disease +GARD:0006964,GARD:0022524,GARD:0021937,GARD:0003367,Rare neurologic disease +GARD:0006964,GARD:0022531,GARD:0019567,GARD:0003365,Rare genetic disease +GARD:0006964,GARD:0022524,GARD:0019567,GARD:0003364,Rare neurologic disease +GARD:0006964,GARD:0022524,GARD:0019567,GARD:0003367,Rare neurologic disease +GARD:0006964,GARD:0022524,GARD:0021937,GARD:0003368,Rare neurologic disease +GARD:0006964,GARD:0022531,GARD:0019567,GARD:0003364,Rare genetic disease +GARD:0006964,GARD:0022524,GARD:0021937,GARD:0003365,Rare neurologic disease +GARD:0006964,GARD:0022531,GARD:0019567,GARD:0003368,Rare genetic disease +GARD:0006964,GARD:0022524,GARD:0021937,GARD:0003366,Rare neurologic disease +GARD:0006964,GARD:0022524,GARD:0019567,GARD:0003365,Rare neurologic disease +GARD:0006968,GARD:0022508,GARD:0018977,GARD:0017407,Rare inborn errors of metabolism +GARD:0006968,GARD:0022531,GARD:0019529,GARD:0017408,Rare genetic disease +GARD:0006968,GARD:0022511,GARD:0019203,GARD:0017407,Rare bone disease +GARD:0006968,GARD:0022520,GARD:0019529,GARD:0017407,Rare ophthalmic disorder +GARD:0006968,GARD:0022508,GARD:0018977,GARD:0017408,Rare inborn errors of metabolism +GARD:0006968,GARD:0022520,GARD:0019529,GARD:0017408,Rare ophthalmic disorder +GARD:0006968,GARD:0022531,GARD:0018890,GARD:0017407,Rare genetic disease +GARD:0006968,GARD:0022531,GARD:0019203,GARD:0017408,Rare genetic disease +GARD:0006968,GARD:0022531,GARD:0018977,GARD:0017407,Rare genetic disease +GARD:0006968,GARD:0022531,GARD:0019529,GARD:0017407,Rare genetic disease +GARD:0006968,GARD:0022531,GARD:0018890,GARD:0017408,Rare genetic disease +GARD:0006968,GARD:0022524,GARD:0018890,GARD:0017408,Rare neurologic disease +GARD:0006968,GARD:0022524,GARD:0018890,GARD:0017407,Rare neurologic disease +GARD:0006968,GARD:0022531,GARD:0019203,GARD:0017407,Rare genetic disease +GARD:0006968,GARD:0022531,GARD:0018977,GARD:0017408,Rare genetic disease +GARD:0006968,GARD:0022511,GARD:0019203,GARD:0017408,Rare bone disease +GARD:0006969,GARD:0022522,GARD:0021245,,Rare hematologic disease +GARD:0006969,GARD:0022535,GARD:0021245,,Rare neoplastic disease +GARD:0006969,GARD:0022536,GARD:0021245,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0006971,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0006972,GARD:0022520,GARD:0019507,GARD:0019779,Rare ophthalmic disorder +GARD:0006972,GARD:0022520,GARD:0019507,GARD:0019608,Rare ophthalmic disorder +GARD:0006972,GARD:0022531,GARD:0019507,GARD:0019779,Rare genetic disease +GARD:0006972,GARD:0022513,GARD:0019507,GARD:0019608,Rare developmental defect during embryogenesis +GARD:0006972,GARD:0022513,GARD:0019507,GARD:0019779,Rare developmental defect during embryogenesis +GARD:0006972,GARD:0022531,GARD:0019507,GARD:0019608,Rare genetic disease +GARD:0006973,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0006973,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0006973,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0006973,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0006973,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0006973,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0006973,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0006973,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0006973,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0006975,GARD:0022511,GARD:0016535,,Rare bone disease +GARD:0006975,GARD:0022520,GARD:0016535,,Rare ophthalmic disorder +GARD:0006975,GARD:0022513,GARD:0016535,,Rare developmental defect during embryogenesis +GARD:0006975,GARD:0022525,GARD:0016535,,Rare systemic or rheumatologic disease +GARD:0006975,GARD:0022527,GARD:0016535,,Rare circulatory system disease +GARD:0006975,GARD:0022531,GARD:0016535,,Rare genetic disease +GARD:0006975,GARD:0022518,GARD:0016535,,Rare surgical thoracic disease +GARD:0006984,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0006984,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0006984,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0006984,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0006984,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0006984,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0006984,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0006984,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0006984,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0006984,GARD:0022520,GARD:0022092,,Rare ophthalmic disorder +GARD:0006984,GARD:0022531,GARD:0019187,,Rare genetic disease +GARD:0006984,GARD:0022531,GARD:0022173,,Rare genetic disease +GARD:0006984,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0006984,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0006984,GARD:0022513,GARD:0022092,,Rare developmental defect during embryogenesis +GARD:0006984,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0006985,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0006985,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0006985,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0006985,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0006985,GARD:0022513,GARD:0022021,,Rare developmental defect during embryogenesis +GARD:0006985,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0006985,GARD:0022531,GARD:0022021,,Rare genetic disease +GARD:0006985,GARD:0022511,GARD:0022021,,Rare bone disease +GARD:0006986,GARD:0022513,GARD:0012524,,Rare developmental defect during embryogenesis +GARD:0006986,GARD:0022524,GARD:0019599,,Rare neurologic disease +GARD:0006986,GARD:0022531,GARD:0019599,,Rare genetic disease +GARD:0006986,GARD:0022524,GARD:0012524,,Rare neurologic disease +GARD:0006986,GARD:0022531,GARD:0012524,,Rare genetic disease +GARD:0006987,GARD:0022522,GARD:0018878,GARD:0018870,Rare hematologic disease +GARD:0006987,GARD:0022522,GARD:0018878,GARD:0008616,Rare hematologic disease +GARD:0006987,GARD:0022535,GARD:0018878,GARD:0007842,Rare neoplastic disease +GARD:0006987,GARD:0022535,GARD:0018878,GARD:0008616,Rare neoplastic disease +GARD:0006987,GARD:0022535,GARD:0018878,GARD:0018870,Rare neoplastic disease +GARD:0006987,GARD:0022535,GARD:0018878,GARD:0018871,Rare neoplastic disease +GARD:0006987,GARD:0022522,GARD:0018878,GARD:0007842,Rare hematologic disease +GARD:0006987,GARD:0022522,GARD:0018878,GARD:0018871,Rare hematologic disease +GARD:0006992,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0006992,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0006992,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0006992,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0006992,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0006992,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0006992,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0006992,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0006992,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0006995,GARD:0022521,GARD:0020141,,Rare endocrine disease +GARD:0006995,GARD:0022531,GARD:0022384,,Rare genetic disease +GARD:0006995,GARD:0022514,GARD:0021807,,Rare gynecologic or obstetric disease +GARD:0006995,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0006995,GARD:0022513,GARD:0022384,,Rare developmental defect during embryogenesis +GARD:0006995,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0006995,GARD:0022511,GARD:0022384,,Rare bone disease +GARD:0006995,GARD:0022521,GARD:0021388,,Rare endocrine disease +GARD:0006995,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0006995,GARD:0022531,GARD:0020141,,Rare genetic disease +GARD:0006995,GARD:0022531,GARD:0021808,,Rare genetic disease +GARD:0006995,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0006996,GARD:0022520,GARD:0022094,,Rare ophthalmic disorder +GARD:0006996,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0006996,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0006996,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0006996,GARD:0022511,GARD:0019192,,Rare bone disease +GARD:0006996,GARD:0022531,GARD:0019192,,Rare genetic disease +GARD:0006996,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0006996,GARD:0022513,GARD:0019192,,Rare developmental defect during embryogenesis +GARD:0006996,GARD:0022531,GARD:0020115,,Rare genetic disease +GARD:0006996,GARD:0022523,GARD:0020115,,Rare immune disease +GARD:0006996,GARD:0022531,GARD:0022094,,Rare genetic disease +GARD:0006996,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0007002,GARD:0022536,GARD:0010801,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007002,GARD:0022512,GARD:0010801,,Rare renal disease +GARD:0007002,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0007002,GARD:0022531,GARD:0010801,,Rare genetic disease +GARD:0007004,GARD:0022535,GARD:0019763,,Rare neoplastic disease +GARD:0007004,GARD:0022521,GARD:0019763,,Rare endocrine disease +GARD:0007005,GARD:0022524,GARD:0020716,GARD:0017216,Rare neurologic disease +GARD:0007005,GARD:0022524,GARD:0020716,GARD:0017214,Rare neurologic disease +GARD:0007005,GARD:0022524,GARD:0020716,GARD:0020717,Rare neurologic disease +GARD:0007005,GARD:0022535,GARD:0020716,GARD:0020717,Rare neoplastic disease +GARD:0007005,GARD:0022524,GARD:0020716,GARD:0017215,Rare neurologic disease +GARD:0007005,GARD:0022535,GARD:0020716,GARD:0017215,Rare neoplastic disease +GARD:0007005,GARD:0022535,GARD:0020716,GARD:0017216,Rare neoplastic disease +GARD:0007005,GARD:0022535,GARD:0020716,GARD:0017214,Rare neoplastic disease +GARD:0007006,GARD:0022522,GARD:0019462,,Rare hematologic disease +GARD:0007006,GARD:0022531,GARD:0019462,,Rare genetic disease +GARD:0007006,GARD:0022531,GARD:0018951,,Rare genetic disease +GARD:0007006,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0007006,GARD:0022516,GARD:0019842,,Rare gastroenterologic disease +GARD:0007006,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0007006,GARD:0022531,GARD:0019842,,Rare genetic disease +GARD:0007006,GARD:0022508,GARD:0018951,,Rare inborn errors of metabolism +GARD:0007008,GARD:0022531,GARD:0018749,,Rare genetic disease +GARD:0007008,GARD:0022524,GARD:0018749,,Rare neurologic disease +GARD:0007009,GARD:0022531,GARD:0022151,,Rare genetic disease +GARD:0007009,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0007009,GARD:0022524,GARD:0020556,,Rare neurologic disease +GARD:0007009,GARD:0022531,GARD:0020556,,Rare genetic disease +GARD:0007009,GARD:0022520,GARD:0022116,,Rare ophthalmic disorder +GARD:0007009,GARD:0022515,GARD:0020527,,Rare cardiac disease +GARD:0007009,GARD:0022531,GARD:0020521,,Rare genetic disease +GARD:0007009,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0007009,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0007009,GARD:0022524,GARD:0020555,,Rare neurologic disease +GARD:0007009,GARD:0022531,GARD:0020555,,Rare genetic disease +GARD:0007009,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0007009,GARD:0022531,GARD:0020756,,Rare genetic disease +GARD:0007009,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0007009,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0007009,GARD:0022515,GARD:0020521,,Rare cardiac disease +GARD:0007009,GARD:0022531,GARD:0020527,,Rare genetic disease +GARD:0007009,GARD:0022536,GARD:0020521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007009,GARD:0022508,GARD:0020756,,Rare inborn errors of metabolism +GARD:0007009,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0007009,GARD:0022536,GARD:0020527,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007010,GARD:0022530,GARD:0019012,,Rare allergic disease +GARD:0007010,GARD:0022510,GARD:0019012,,Rare skin disease +GARD:0007011,GARD:0022511,GARD:0021570,,Rare bone disease +GARD:0007011,GARD:0022531,GARD:0022165,,Rare genetic disease +GARD:0007011,GARD:0022513,GARD:0021570,,Rare developmental defect during embryogenesis +GARD:0007011,GARD:0022520,GARD:0022082,,Rare ophthalmic disorder +GARD:0007011,GARD:0022513,GARD:0022082,,Rare developmental defect during embryogenesis +GARD:0007011,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0007011,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0007011,GARD:0022531,GARD:0022094,,Rare genetic disease +GARD:0007011,GARD:0022531,GARD:0021570,,Rare genetic disease +GARD:0007011,GARD:0022520,GARD:0022094,,Rare ophthalmic disorder +GARD:0007015,GARD:0022535,GARD:0020737,GARD:0008491,Rare neoplastic disease +GARD:0007015,GARD:0022521,GARD:0019279,GARD:0008491,Rare endocrine disease +GARD:0007015,GARD:0022524,GARD:0020737,GARD:0008491,Rare neurologic disease +GARD:0007021,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0007026,GARD:0022517,GARD:0019794,,Rare respiratory disease +GARD:0007026,GARD:0022535,GARD:0019794,,Rare neoplastic disease +GARD:0007029,GARD:0022513,GARD:0019192,,Rare developmental defect during embryogenesis +GARD:0007029,GARD:0022511,GARD:0019192,,Rare bone disease +GARD:0007029,GARD:0022531,GARD:0019192,,Rare genetic disease +GARD:0007035,GARD:0022508,GARD:0021337,GARD:0002206,Rare inborn errors of metabolism +GARD:0007035,GARD:0022511,GARD:0019205,GARD:0002205,Rare bone disease +GARD:0007035,GARD:0022508,GARD:0021337,GARD:0002204,Rare inborn errors of metabolism +GARD:0007035,GARD:0022508,GARD:0021337,GARD:0002205,Rare inborn errors of metabolism +GARD:0007035,GARD:0022535,GARD:0018892,GARD:0002204,Rare neoplastic disease +GARD:0007035,GARD:0022513,GARD:0019205,GARD:0002206,Rare developmental defect during embryogenesis +GARD:0007035,GARD:0022531,GARD:0021609,GARD:0002204,Rare genetic disease +GARD:0007035,GARD:0022513,GARD:0021609,GARD:0002204,Rare developmental defect during embryogenesis +GARD:0007035,GARD:0022511,GARD:0018892,GARD:0002204,Rare bone disease +GARD:0007035,GARD:0022531,GARD:0021337,GARD:0002204,Rare genetic disease +GARD:0007035,GARD:0022531,GARD:0019205,GARD:0002206,Rare genetic disease +GARD:0007035,GARD:0022531,GARD:0019205,GARD:0002204,Rare genetic disease +GARD:0007035,GARD:0022535,GARD:0018892,GARD:0002206,Rare neoplastic disease +GARD:0007035,GARD:0022531,GARD:0021609,GARD:0002206,Rare genetic disease +GARD:0007035,GARD:0022531,GARD:0019205,GARD:0002205,Rare genetic disease +GARD:0007035,GARD:0022511,GARD:0019205,GARD:0002206,Rare bone disease +GARD:0007035,GARD:0022531,GARD:0021337,GARD:0002206,Rare genetic disease +GARD:0007035,GARD:0022513,GARD:0021609,GARD:0002205,Rare developmental defect during embryogenesis +GARD:0007035,GARD:0022531,GARD:0020289,GARD:0002204,Rare genetic disease +GARD:0007035,GARD:0022511,GARD:0018892,GARD:0002205,Rare bone disease +GARD:0007035,GARD:0022535,GARD:0018892,GARD:0002205,Rare neoplastic disease +GARD:0007035,GARD:0022513,GARD:0019205,GARD:0002204,Rare developmental defect during embryogenesis +GARD:0007035,GARD:0022511,GARD:0019205,GARD:0002204,Rare bone disease +GARD:0007035,GARD:0022513,GARD:0021609,GARD:0002206,Rare developmental defect during embryogenesis +GARD:0007035,GARD:0022531,GARD:0020289,GARD:0002205,Rare genetic disease +GARD:0007035,GARD:0022531,GARD:0021337,GARD:0002205,Rare genetic disease +GARD:0007035,GARD:0022531,GARD:0020289,GARD:0002206,Rare genetic disease +GARD:0007035,GARD:0022531,GARD:0021609,GARD:0002205,Rare genetic disease +GARD:0007035,GARD:0022511,GARD:0018892,GARD:0002206,Rare bone disease +GARD:0007035,GARD:0022513,GARD:0019205,GARD:0002205,Rare developmental defect during embryogenesis +GARD:0007039,GARD:0022516,GARD:0019845,,Rare gastroenterologic disease +GARD:0007039,GARD:0022536,GARD:0018918,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007039,GARD:0022531,GARD:0019845,,Rare genetic disease +GARD:0007039,GARD:0022536,GARD:0019845,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007039,GARD:0022531,GARD:0021546,,Rare genetic disease +GARD:0007039,GARD:0022516,GARD:0018918,,Rare gastroenterologic disease +GARD:0007041,GARD:0022535,GARD:0020162,,Rare neoplastic disease +GARD:0007041,GARD:0022535,GARD:0021147,,Rare neoplastic disease +GARD:0007041,GARD:0022522,GARD:0020162,,Rare hematologic disease +GARD:0007041,GARD:0022510,GARD:0020162,,Rare skin disease +GARD:0007041,GARD:0022536,GARD:0020162,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007043,GARD:0022520,GARD:0022078,,Rare ophthalmic disorder +GARD:0007043,GARD:0022525,GARD:0022391,,Rare systemic or rheumatologic disease +GARD:0007043,GARD:0022528,GARD:0022528,,Rare otorhinolaryngologic disease +GARD:0007051,GARD:0022524,GARD:0020416,,Rare neurologic disease +GARD:0007051,GARD:0022536,GARD:0022291,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007051,GARD:0022512,GARD:0022291,,Rare renal disease +GARD:0007051,GARD:0022517,GARD:0020247,,Rare respiratory disease +GARD:0007051,GARD:0022536,GARD:0020247,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007051,GARD:0022525,GARD:0020696,,Rare systemic or rheumatologic disease +GARD:0007051,GARD:0021079,GARD:0020696,,Rare systemic or rheumatological disease of childhood +GARD:0007058,GARD:0022510,GARD:0018705,,Rare skin disease +GARD:0007064,GARD:0022524,GARD:0021964,GARD:0015746,Rare neurologic disease +GARD:0007064,GARD:0022524,GARD:0021964,GARD:0015410,Rare neurologic disease +GARD:0007064,GARD:0022524,GARD:0021964,GARD:0015442,Rare neurologic disease +GARD:0007065,GARD:0022511,GARD:0019911,GARD:0010335,Rare bone disease +GARD:0007065,GARD:0022531,GARD:0019524,GARD:0003807,Rare genetic disease +GARD:0007065,GARD:0022513,GARD:0019911,GARD:0003807,Rare developmental defect during embryogenesis +GARD:0007065,GARD:0022536,GARD:0022063,GARD:0006675,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007065,GARD:0022511,GARD:0019911,GARD:0003807,Rare bone disease +GARD:0007065,GARD:0022531,GARD:0019911,GARD:0006675,Rare genetic disease +GARD:0007065,GARD:0022531,GARD:0019900,GARD:0007096,Rare genetic disease +GARD:0007065,GARD:0022531,GARD:0018884,GARD:0007096,Rare genetic disease +GARD:0007065,GARD:0022536,GARD:0022063,GARD:0016675,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007065,GARD:0022511,GARD:0019911,GARD:0006675,Rare bone disease +GARD:0007065,GARD:0022520,GARD:0019524,GARD:0006675,Rare ophthalmic disorder +GARD:0007065,GARD:0022520,GARD:0019524,GARD:0007095,Rare ophthalmic disorder +GARD:0007065,GARD:0022531,GARD:0018884,GARD:0010335,Rare genetic disease +GARD:0007065,GARD:0022508,GARD:0018884,GARD:0007095,Rare inborn errors of metabolism +GARD:0007065,GARD:0022513,GARD:0019900,GARD:0016675,Rare developmental defect during embryogenesis +GARD:0007065,GARD:0022520,GARD:0019524,GARD:0016675,Rare ophthalmic disorder +GARD:0007065,GARD:0022508,GARD:0018884,GARD:0010335,Rare inborn errors of metabolism +GARD:0007065,GARD:0022511,GARD:0019911,GARD:0007095,Rare bone disease +GARD:0007065,GARD:0022513,GARD:0019900,GARD:0003807,Rare developmental defect during embryogenesis +GARD:0007065,GARD:0022513,GARD:0019911,GARD:0006675,Rare developmental defect during embryogenesis +GARD:0007065,GARD:0022513,GARD:0019900,GARD:0012562,Rare developmental defect during embryogenesis +GARD:0007065,GARD:0022531,GARD:0019900,GARD:0012562,Rare genetic disease +GARD:0007065,GARD:0022531,GARD:0019524,GARD:0012562,Rare genetic disease +GARD:0007065,GARD:0022513,GARD:0019900,GARD:0010335,Rare developmental defect during embryogenesis +GARD:0007065,GARD:0022508,GARD:0018884,GARD:0003807,Rare inborn errors of metabolism +GARD:0007065,GARD:0022531,GARD:0018884,GARD:0016675,Rare genetic disease +GARD:0007065,GARD:0022511,GARD:0019911,GARD:0016675,Rare bone disease +GARD:0007065,GARD:0022511,GARD:0019911,GARD:0007096,Rare bone disease +GARD:0007065,GARD:0022531,GARD:0019524,GARD:0007095,Rare genetic disease +GARD:0007065,GARD:0022531,GARD:0019524,GARD:0007096,Rare genetic disease +GARD:0007065,GARD:0022508,GARD:0018884,GARD:0007096,Rare inborn errors of metabolism +GARD:0007065,GARD:0022520,GARD:0019524,GARD:0007096,Rare ophthalmic disorder +GARD:0007065,GARD:0022531,GARD:0019900,GARD:0003807,Rare genetic disease +GARD:0007065,GARD:0022513,GARD:0019911,GARD:0012562,Rare developmental defect during embryogenesis +GARD:0007065,GARD:0022520,GARD:0019524,GARD:0012562,Rare ophthalmic disorder +GARD:0007065,GARD:0022531,GARD:0019900,GARD:0007095,Rare genetic disease +GARD:0007065,GARD:0022536,GARD:0022063,GARD:0003807,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007065,GARD:0022520,GARD:0019524,GARD:0010335,Rare ophthalmic disorder +GARD:0007065,GARD:0022531,GARD:0019900,GARD:0006675,Rare genetic disease +GARD:0007065,GARD:0022513,GARD:0019900,GARD:0006675,Rare developmental defect during embryogenesis +GARD:0007065,GARD:0022531,GARD:0019911,GARD:0016675,Rare genetic disease +GARD:0007065,GARD:0022531,GARD:0019911,GARD:0007095,Rare genetic disease +GARD:0007065,GARD:0022531,GARD:0019524,GARD:0016675,Rare genetic disease +GARD:0007065,GARD:0022531,GARD:0018884,GARD:0007095,Rare genetic disease +GARD:0007065,GARD:0022513,GARD:0019911,GARD:0016675,Rare developmental defect during embryogenesis +GARD:0007065,GARD:0022513,GARD:0019911,GARD:0007095,Rare developmental defect during embryogenesis +GARD:0007065,GARD:0022508,GARD:0018884,GARD:0016675,Rare inborn errors of metabolism +GARD:0007065,GARD:0022513,GARD:0019911,GARD:0010335,Rare developmental defect during embryogenesis +GARD:0007065,GARD:0022513,GARD:0019900,GARD:0007096,Rare developmental defect during embryogenesis +GARD:0007065,GARD:0022531,GARD:0019911,GARD:0012562,Rare genetic disease +GARD:0007065,GARD:0022511,GARD:0019911,GARD:0012562,Rare bone disease +GARD:0007065,GARD:0022531,GARD:0019911,GARD:0007096,Rare genetic disease +GARD:0007065,GARD:0022508,GARD:0018884,GARD:0006675,Rare inborn errors of metabolism +GARD:0007065,GARD:0022536,GARD:0022063,GARD:0007096,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007065,GARD:0022508,GARD:0018884,GARD:0012562,Rare inborn errors of metabolism +GARD:0007065,GARD:0022531,GARD:0019911,GARD:0010335,Rare genetic disease +GARD:0007065,GARD:0022536,GARD:0022063,GARD:0010335,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007065,GARD:0022531,GARD:0019900,GARD:0016675,Rare genetic disease +GARD:0007065,GARD:0022536,GARD:0022063,GARD:0012562,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007065,GARD:0022531,GARD:0018884,GARD:0012562,Rare genetic disease +GARD:0007065,GARD:0022531,GARD:0019911,GARD:0003807,Rare genetic disease +GARD:0007065,GARD:0022513,GARD:0019900,GARD:0007095,Rare developmental defect during embryogenesis +GARD:0007065,GARD:0022513,GARD:0019911,GARD:0007096,Rare developmental defect during embryogenesis +GARD:0007065,GARD:0022531,GARD:0018884,GARD:0006675,Rare genetic disease +GARD:0007065,GARD:0022536,GARD:0022063,GARD:0007095,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007065,GARD:0022531,GARD:0018884,GARD:0003807,Rare genetic disease +GARD:0007065,GARD:0022531,GARD:0019524,GARD:0006675,Rare genetic disease +GARD:0007065,GARD:0022531,GARD:0019524,GARD:0010335,Rare genetic disease +GARD:0007065,GARD:0022520,GARD:0019524,GARD:0003807,Rare ophthalmic disorder +GARD:0007065,GARD:0022531,GARD:0019900,GARD:0010335,Rare genetic disease +GARD:0007071,GARD:0022536,GARD:0003807,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007071,GARD:0022511,GARD:0003807,,Rare bone disease +GARD:0007071,GARD:0022520,GARD:0003807,,Rare ophthalmic disorder +GARD:0007071,GARD:0022508,GARD:0003807,,Rare inborn errors of metabolism +GARD:0007071,GARD:0022513,GARD:0003807,,Rare developmental defect during embryogenesis +GARD:0007071,GARD:0022524,GARD:0003807,,Rare neurologic disease +GARD:0007071,GARD:0022531,GARD:0003807,,Rare genetic disease +GARD:0007072,GARD:0022524,GARD:0003807,,Rare neurologic disease +GARD:0007072,GARD:0022531,GARD:0003807,,Rare genetic disease +GARD:0007072,GARD:0022536,GARD:0003807,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007072,GARD:0022508,GARD:0003807,,Rare inborn errors of metabolism +GARD:0007072,GARD:0022513,GARD:0003807,,Rare developmental defect during embryogenesis +GARD:0007072,GARD:0022520,GARD:0003807,,Rare ophthalmic disorder +GARD:0007072,GARD:0022511,GARD:0003807,,Rare bone disease +GARD:0007073,GARD:0022511,GARD:0003807,,Rare bone disease +GARD:0007073,GARD:0022508,GARD:0003807,,Rare inborn errors of metabolism +GARD:0007073,GARD:0022520,GARD:0003807,,Rare ophthalmic disorder +GARD:0007073,GARD:0022531,GARD:0003807,,Rare genetic disease +GARD:0007073,GARD:0022513,GARD:0003807,,Rare developmental defect during embryogenesis +GARD:0007073,GARD:0022536,GARD:0003807,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007073,GARD:0022524,GARD:0003807,,Rare neurologic disease +GARD:0007074,GARD:0022513,GARD:0003807,,Rare developmental defect during embryogenesis +GARD:0007074,GARD:0022524,GARD:0003807,,Rare neurologic disease +GARD:0007074,GARD:0022508,GARD:0003807,,Rare inborn errors of metabolism +GARD:0007074,GARD:0022536,GARD:0003807,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007074,GARD:0022531,GARD:0003807,,Rare genetic disease +GARD:0007074,GARD:0022520,GARD:0003807,,Rare ophthalmic disorder +GARD:0007074,GARD:0022511,GARD:0003807,,Rare bone disease +GARD:0007079,GARD:0022524,GARD:0020240,GARD:0020565,Rare neurologic disease +GARD:0007079,GARD:0022524,GARD:0012959,GARD:0020565,Rare neurologic disease +GARD:0007079,GARD:0022524,GARD:0020240,GARD:0019604,Rare neurologic disease +GARD:0007079,GARD:0022524,GARD:0012959,GARD:0019604,Rare neurologic disease +GARD:0007079,GARD:0022524,GARD:0021267,GARD:0019604,Rare neurologic disease +GARD:0007079,GARD:0022524,GARD:0021267,GARD:0020565,Rare neurologic disease +GARD:0007095,GARD:0022511,GARD:0007065,GARD:0021046,Rare bone disease +GARD:0007095,GARD:0022508,GARD:0007065,GARD:0021046,Rare inborn errors of metabolism +GARD:0007095,GARD:0022511,GARD:0019203,GARD:0021046,Rare bone disease +GARD:0007095,GARD:0022531,GARD:0007065,GARD:0021047,Rare genetic disease +GARD:0007095,GARD:0022508,GARD:0007065,GARD:0021047,Rare inborn errors of metabolism +GARD:0007095,GARD:0022531,GARD:0007065,GARD:0021046,Rare genetic disease +GARD:0007095,GARD:0022531,GARD:0019203,GARD:0021046,Rare genetic disease +GARD:0007095,GARD:0022531,GARD:0019203,GARD:0021047,Rare genetic disease +GARD:0007095,GARD:0022520,GARD:0007065,GARD:0021047,Rare ophthalmic disorder +GARD:0007095,GARD:0022513,GARD:0007065,GARD:0021046,Rare developmental defect during embryogenesis +GARD:0007095,GARD:0022511,GARD:0007065,GARD:0021047,Rare bone disease +GARD:0007095,GARD:0022536,GARD:0007065,GARD:0021047,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007095,GARD:0022536,GARD:0007065,GARD:0021046,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007095,GARD:0022511,GARD:0019203,GARD:0021047,Rare bone disease +GARD:0007095,GARD:0022520,GARD:0007065,GARD:0021046,Rare ophthalmic disorder +GARD:0007095,GARD:0022513,GARD:0007065,GARD:0021047,Rare developmental defect during embryogenesis +GARD:0007096,GARD:0022511,GARD:0007065,,Rare bone disease +GARD:0007096,GARD:0022508,GARD:0007065,,Rare inborn errors of metabolism +GARD:0007096,GARD:0022536,GARD:0007065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007096,GARD:0022531,GARD:0007065,,Rare genetic disease +GARD:0007096,GARD:0022511,GARD:0019203,,Rare bone disease +GARD:0007096,GARD:0022531,GARD:0019203,,Rare genetic disease +GARD:0007096,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0007096,GARD:0022520,GARD:0007065,,Rare ophthalmic disorder +GARD:0007096,GARD:0022513,GARD:0007065,,Rare developmental defect during embryogenesis +GARD:0007096,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0007097,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0007097,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0007097,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0007097,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0007097,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0007097,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0007100,GARD:0022536,GARD:0020171,GARD:0020172,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007100,GARD:0022536,GARD:0020171,GARD:0020173,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007100,GARD:0022514,GARD:0020171,GARD:0020172,Rare gynecologic or obstetric disease +GARD:0007100,GARD:0022513,GARD:0020171,GARD:0020173,Rare developmental defect during embryogenesis +GARD:0007100,GARD:0022531,GARD:0020323,GARD:0020173,Rare genetic disease +GARD:0007100,GARD:0022532,GARD:0020171,GARD:0020172,Rare urogenital disease +GARD:0007100,GARD:0022513,GARD:0020171,GARD:0020172,Rare developmental defect during embryogenesis +GARD:0007100,GARD:0022532,GARD:0020171,GARD:0020173,Rare urogenital disease +GARD:0007100,GARD:0022531,GARD:0020009,GARD:0020173,Rare genetic disease +GARD:0007100,GARD:0022531,GARD:0020009,GARD:0020172,Rare genetic disease +GARD:0007100,GARD:0022514,GARD:0020171,GARD:0020173,Rare gynecologic or obstetric disease +GARD:0007100,GARD:0022531,GARD:0020323,GARD:0020172,Rare genetic disease +GARD:0007103,GARD:0022525,GARD:0008231,,Rare systemic or rheumatologic disease +GARD:0007103,GARD:0022510,GARD:0008231,,Rare skin disease +GARD:0007108,GARD:0022522,GARD:0019440,,Rare hematologic disease +GARD:0007108,GARD:0022536,GARD:0019440,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007108,GARD:0022535,GARD:0019440,,Rare neoplastic disease +GARD:0007108,GARD:0022524,GARD:0020419,,Rare neurologic disease +GARD:0007111,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0007111,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0007111,GARD:0022513,GARD:0021177,,Rare developmental defect during embryogenesis +GARD:0007111,GARD:0022531,GARD:0021177,,Rare genetic disease +GARD:0007122,GARD:0022524,GARD:0021933,GARD:0021625,Rare neurologic disease +GARD:0007122,GARD:0022524,GARD:0021933,GARD:0021624,Rare neurologic disease +GARD:0007122,GARD:0022520,GARD:0022118,GARD:0021625,Rare ophthalmic disorder +GARD:0007122,GARD:0022520,GARD:0022118,GARD:0021624,Rare ophthalmic disorder +GARD:0007122,GARD:0022524,GARD:0021933,GARD:0021623,Rare neurologic disease +GARD:0007122,GARD:0022520,GARD:0022118,GARD:0021623,Rare ophthalmic disorder +GARD:0007132,GARD:0022522,GARD:0020130,GARD:0019070,Rare hematologic disease +GARD:0007132,GARD:0022535,GARD:0020130,GARD:0019070,Rare neoplastic disease +GARD:0007132,GARD:0022522,GARD:0020130,GARD:0003765,Rare hematologic disease +GARD:0007132,GARD:0022536,GARD:0020130,GARD:0003765,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007132,GARD:0022536,GARD:0020130,GARD:0020108,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007132,GARD:0022522,GARD:0020130,GARD:0008723,Rare hematologic disease +GARD:0007132,GARD:0022535,GARD:0020130,GARD:0019069,Rare neoplastic disease +GARD:0007132,GARD:0022536,GARD:0020130,GARD:0008723,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007132,GARD:0022535,GARD:0020130,GARD:0008249,Rare neoplastic disease +GARD:0007132,GARD:0022535,GARD:0020130,GARD:0020108,Rare neoplastic disease +GARD:0007132,GARD:0022522,GARD:0020130,GARD:0008249,Rare hematologic disease +GARD:0007132,GARD:0022522,GARD:0020130,GARD:0019069,Rare hematologic disease +GARD:0007132,GARD:0022536,GARD:0020130,GARD:0019070,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007132,GARD:0022536,GARD:0020130,GARD:0019069,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007132,GARD:0022536,GARD:0020130,GARD:0008249,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007132,GARD:0022535,GARD:0020130,GARD:0008723,Rare neoplastic disease +GARD:0007132,GARD:0022522,GARD:0020130,GARD:0020108,Rare hematologic disease +GARD:0007132,GARD:0022535,GARD:0020130,GARD:0003765,Rare neoplastic disease +GARD:0007139,GARD:0022531,GARD:0021628,GARD:0016103,Rare genetic disease +GARD:0007139,GARD:0022524,GARD:0021628,GARD:0016103,Rare neurologic disease +GARD:0007139,GARD:0022531,GARD:0019566,GARD:0016103,Rare genetic disease +GARD:0007139,GARD:0022531,GARD:0021275,GARD:0018616,Rare genetic disease +GARD:0007139,GARD:0022524,GARD:0021275,GARD:0018616,Rare neurologic disease +GARD:0007139,GARD:0022524,GARD:0021275,GARD:0016103,Rare neurologic disease +GARD:0007139,GARD:0022531,GARD:0021628,GARD:0018616,Rare genetic disease +GARD:0007139,GARD:0022524,GARD:0019566,GARD:0016103,Rare neurologic disease +GARD:0007139,GARD:0022524,GARD:0021628,GARD:0018616,Rare neurologic disease +GARD:0007139,GARD:0022524,GARD:0019566,GARD:0018616,Rare neurologic disease +GARD:0007139,GARD:0022531,GARD:0021275,GARD:0016103,Rare genetic disease +GARD:0007139,GARD:0022531,GARD:0019566,GARD:0018616,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0017032,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0009447,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0017715,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0007144,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0009447,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0010037,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0017801,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0003875,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0004938,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0017671,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0017715,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0017032,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0004938,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0003875,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0017801,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0003876,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0010973,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0017706,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0007144,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0003872,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0008214,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0017031,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0017715,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0003872,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0017801,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0003875,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0017482,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0004010,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0017801,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0003876,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0017482,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0004938,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0010973,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0003872,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0008214,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0003875,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0004010,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0017715,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0017706,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0003875,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0017482,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0010037,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0017671,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0008214,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0010973,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0004010,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0017706,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0008214,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0008214,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0017671,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0009447,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0007144,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0004010,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0007144,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0017031,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0010973,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0010973,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0009447,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0010037,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0017671,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0017671,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0003876,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0008214,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0017032,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0003876,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0004938,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0017482,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0017671,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0017482,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0017031,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0004010,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0017032,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0003872,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0010037,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0017715,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0017032,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0017031,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0017801,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0017032,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0003872,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0017715,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0017706,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0004938,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0017031,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0010037,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0009447,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0017031,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0003876,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0009447,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0017706,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0004938,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0007144,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0003872,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0019437,GARD:0017801,Rare neurologic disease +GARD:0007140,GARD:0022524,GARD:0021277,GARD:0010973,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0010037,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0003875,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0003876,Rare neurologic disease +GARD:0007140,GARD:0022531,GARD:0021277,GARD:0004010,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019437,GARD:0007144,Rare genetic disease +GARD:0007140,GARD:0022531,GARD:0019438,GARD:0017482,Rare genetic disease +GARD:0007140,GARD:0022524,GARD:0019438,GARD:0017706,Rare neurologic disease +GARD:0007144,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0007144,GARD:0022531,GARD:0020556,,Rare genetic disease +GARD:0007144,GARD:0022536,GARD:0020527,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007144,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0007144,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0007144,GARD:0022531,GARD:0020521,,Rare genetic disease +GARD:0007144,GARD:0022508,GARD:0020756,,Rare inborn errors of metabolism +GARD:0007144,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0007144,GARD:0022531,GARD:0020527,,Rare genetic disease +GARD:0007144,GARD:0022524,GARD:0020555,,Rare neurologic disease +GARD:0007144,GARD:0022531,GARD:0007140,,Rare genetic disease +GARD:0007144,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0007144,GARD:0022531,GARD:0020555,,Rare genetic disease +GARD:0007144,GARD:0022531,GARD:0020756,,Rare genetic disease +GARD:0007144,GARD:0022515,GARD:0020527,,Rare cardiac disease +GARD:0007144,GARD:0022524,GARD:0020556,,Rare neurologic disease +GARD:0007144,GARD:0022536,GARD:0020521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007144,GARD:0022524,GARD:0007140,,Rare neurologic disease +GARD:0007144,GARD:0022515,GARD:0020521,,Rare cardiac disease +GARD:0007144,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0007146,GARD:0022535,GARD:0018907,,Rare neoplastic disease +GARD:0007148,GARD:0022524,GARD:0005898,GARD:0015207,Rare neurologic disease +GARD:0007148,GARD:0022531,GARD:0005898,GARD:0015429,Rare genetic disease +GARD:0007148,GARD:0022531,GARD:0005898,GARD:0015207,Rare genetic disease +GARD:0007148,GARD:0022531,GARD:0020434,GARD:0015429,Rare genetic disease +GARD:0007148,GARD:0022524,GARD:0005898,GARD:0015429,Rare neurologic disease +GARD:0007148,GARD:0022531,GARD:0020434,GARD:0015207,Rare genetic disease +GARD:0007157,GARD:0022535,GARD:0006913,GARD:0015667,Rare neoplastic disease +GARD:0007158,GARD:0022531,GARD:0007837,,Rare genetic disease +GARD:0007158,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0007158,GARD:0022508,GARD:0007837,,Rare inborn errors of metabolism +GARD:0007158,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0007160,GARD:0022513,GARD:0019209,,Rare developmental defect during embryogenesis +GARD:0007160,GARD:0022511,GARD:0019209,,Rare bone disease +GARD:0007160,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0007160,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0007160,GARD:0022510,GARD:0019001,,Rare skin disease +GARD:0007160,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0007160,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0007160,GARD:0022531,GARD:0019001,,Rare genetic disease +GARD:0007160,GARD:0022531,GARD:0019209,,Rare genetic disease +GARD:0007160,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007161,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0007161,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0007161,GARD:0022531,GARD:0019532,,Rare genetic disease +GARD:0007161,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0007161,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0007161,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0007161,GARD:0022520,GARD:0019532,,Rare ophthalmic disorder +GARD:0007161,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0007162,GARD:0022524,GARD:0022460,GARD:0015555,Rare neurologic disease +GARD:0007162,GARD:0022524,GARD:0022460,GARD:0015779,Rare neurologic disease +GARD:0007162,GARD:0022524,GARD:0022460,GARD:0015783,Rare neurologic disease +GARD:0007162,GARD:0022524,GARD:0022460,GARD:0015091,Rare neurologic disease +GARD:0007162,GARD:0022524,GARD:0022460,GARD:0015587,Rare neurologic disease +GARD:0007162,GARD:0022524,GARD:0022460,GARD:0015447,Rare neurologic disease +GARD:0007162,GARD:0022524,GARD:0022460,GARD:0015388,Rare neurologic disease +GARD:0007163,GARD:0022535,GARD:0019405,GARD:0015092,Rare neoplastic disease +GARD:0007163,GARD:0022517,GARD:0019404,GARD:0016184,Rare respiratory disease +GARD:0007163,GARD:0022517,GARD:0019404,GARD:0015092,Rare respiratory disease +GARD:0007163,GARD:0022528,GARD:0019405,GARD:0016184,Rare otorhinolaryngologic disease +GARD:0007163,GARD:0022535,GARD:0021148,GARD:0015092,Rare neoplastic disease +GARD:0007163,GARD:0022535,GARD:0019405,GARD:0016184,Rare neoplastic disease +GARD:0007163,GARD:0022535,GARD:0019404,GARD:0016184,Rare neoplastic disease +GARD:0007163,GARD:0022535,GARD:0021148,GARD:0016184,Rare neoplastic disease +GARD:0007163,GARD:0022528,GARD:0019405,GARD:0015092,Rare otorhinolaryngologic disease +GARD:0007163,GARD:0022535,GARD:0019404,GARD:0015092,Rare neoplastic disease +GARD:0007166,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0007166,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0007166,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0007166,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0007166,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0007166,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0007166,GARD:0022524,GARD:0020742,,Rare neurologic disease +GARD:0007166,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0007170,GARD:0022521,GARD:0021389,,Rare endocrine disease +GARD:0007170,GARD:0022535,GARD:0021389,,Rare neoplastic disease +GARD:0007171,GARD:0022524,GARD:0012033,GARD:0010111,Rare neurologic disease +GARD:0007171,GARD:0022531,GARD:0021123,GARD:0016222,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0020432,GARD:0015453,Rare genetic disease +GARD:0007171,GARD:0022524,GARD:0012033,GARD:0016222,Rare neurologic disease +GARD:0007171,GARD:0022524,GARD:0012033,GARD:0015209,Rare neurologic disease +GARD:0007171,GARD:0022531,GARD:0020432,GARD:0015209,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0020432,GARD:0015454,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0012033,GARD:0010111,Rare genetic disease +GARD:0007171,GARD:0022524,GARD:0012033,GARD:0015453,Rare neurologic disease +GARD:0007171,GARD:0022531,GARD:0020433,GARD:0015209,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0020432,GARD:0015452,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0021123,GARD:0015209,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0020432,GARD:0016222,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0020433,GARD:0015453,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0021123,GARD:0010111,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0012033,GARD:0016007,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0012033,GARD:0015453,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0021123,GARD:0016007,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0020433,GARD:0015454,Rare genetic disease +GARD:0007171,GARD:0022524,GARD:0012033,GARD:0015454,Rare neurologic disease +GARD:0007171,GARD:0022531,GARD:0021123,GARD:0015454,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0020432,GARD:0010111,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0020433,GARD:0016222,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0012033,GARD:0015452,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0012033,GARD:0015454,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0012033,GARD:0016222,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0020433,GARD:0010111,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0020432,GARD:0016007,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0012033,GARD:0015209,Rare genetic disease +GARD:0007171,GARD:0022524,GARD:0012033,GARD:0015452,Rare neurologic disease +GARD:0007171,GARD:0022531,GARD:0021123,GARD:0015452,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0020433,GARD:0016007,Rare genetic disease +GARD:0007171,GARD:0022531,GARD:0020433,GARD:0015452,Rare genetic disease +GARD:0007171,GARD:0022524,GARD:0012033,GARD:0016007,Rare neurologic disease +GARD:0007171,GARD:0022531,GARD:0021123,GARD:0015453,Rare genetic disease +GARD:0007172,GARD:0022508,GARD:0021355,,Rare inborn errors of metabolism +GARD:0007172,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007172,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0007172,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0007172,GARD:0022531,GARD:0021355,,Rare genetic disease +GARD:0007178,GARD:0022531,GARD:0020306,GARD:0015289,Rare genetic disease +GARD:0007178,GARD:0022512,GARD:0019230,GARD:0015058,Rare renal disease +GARD:0007178,GARD:0022531,GARD:0020306,GARD:0015058,Rare genetic disease +GARD:0007178,GARD:0022512,GARD:0019230,GARD:0015289,Rare renal disease +GARD:0007180,GARD:0022524,GARD:0012697,GARD:0022368,Rare neurologic disease +GARD:0007180,GARD:0022524,GARD:0012697,GARD:0004767,Rare neurologic disease +GARD:0007180,GARD:0022524,GARD:0012697,GARD:0011006,Rare neurologic disease +GARD:0007180,GARD:0022535,GARD:0012697,GARD:0007191,Rare neoplastic disease +GARD:0007180,GARD:0022524,GARD:0012697,GARD:0007191,Rare neurologic disease +GARD:0007180,GARD:0022535,GARD:0012697,GARD:0022368,Rare neoplastic disease +GARD:0007180,GARD:0022535,GARD:0012697,GARD:0011006,Rare neoplastic disease +GARD:0007180,GARD:0022535,GARD:0012697,GARD:0004767,Rare neoplastic disease +GARD:0007182,GARD:0022523,GARD:0010956,,Rare immune disease +GARD:0007182,GARD:0022531,GARD:0010956,,Rare genetic disease +GARD:0007182,GARD:0022510,GARD:0021111,,Rare skin disease +GARD:0007182,GARD:0022531,GARD:0021111,,Rare genetic disease +GARD:0007183,GARD:0022512,GARD:0019229,GARD:0019184,Rare renal disease +GARD:0007183,GARD:0022513,GARD:0019832,GARD:0019184,Rare developmental defect during embryogenesis +GARD:0007183,GARD:0022524,GARD:0019832,GARD:0019184,Rare neurologic disease +GARD:0007183,GARD:0022511,GARD:0019203,GARD:0019183,Rare bone disease +GARD:0007183,GARD:0022531,GARD:0019229,GARD:0019184,Rare genetic disease +GARD:0007183,GARD:0022508,GARD:0021331,GARD:0019184,Rare inborn errors of metabolism +GARD:0007183,GARD:0022513,GARD:0019832,GARD:0019183,Rare developmental defect during embryogenesis +GARD:0007183,GARD:0022511,GARD:0019203,GARD:0019184,Rare bone disease +GARD:0007183,GARD:0022508,GARD:0021331,GARD:0019183,Rare inborn errors of metabolism +GARD:0007183,GARD:0022520,GARD:0021331,GARD:0019183,Rare ophthalmic disorder +GARD:0007183,GARD:0022531,GARD:0022441,GARD:0019184,Rare genetic disease +GARD:0007183,GARD:0022531,GARD:0019203,GARD:0019183,Rare genetic disease +GARD:0007183,GARD:0022531,GARD:0021331,GARD:0019184,Rare genetic disease +GARD:0007183,GARD:0022524,GARD:0019832,GARD:0019183,Rare neurologic disease +GARD:0007183,GARD:0022531,GARD:0021331,GARD:0019183,Rare genetic disease +GARD:0007183,GARD:0022531,GARD:0022441,GARD:0019183,Rare genetic disease +GARD:0007183,GARD:0022513,GARD:0019900,GARD:0019184,Rare developmental defect during embryogenesis +GARD:0007183,GARD:0022513,GARD:0019900,GARD:0019183,Rare developmental defect during embryogenesis +GARD:0007183,GARD:0022520,GARD:0021331,GARD:0019184,Rare ophthalmic disorder +GARD:0007183,GARD:0022531,GARD:0019229,GARD:0019183,Rare genetic disease +GARD:0007183,GARD:0022531,GARD:0019203,GARD:0019184,Rare genetic disease +GARD:0007183,GARD:0022512,GARD:0019229,GARD:0019183,Rare renal disease +GARD:0007185,GARD:0022524,GARD:0020718,GARD:0015603,Rare neurologic disease +GARD:0007185,GARD:0022535,GARD:0020718,GARD:0015603,Rare neoplastic disease +GARD:0007185,GARD:0022535,GARD:0020718,GARD:0015607,Rare neoplastic disease +GARD:0007185,GARD:0022535,GARD:0020718,GARD:0015211,Rare neoplastic disease +GARD:0007185,GARD:0022535,GARD:0020718,GARD:0015605,Rare neoplastic disease +GARD:0007185,GARD:0022535,GARD:0020718,GARD:0016161,Rare neoplastic disease +GARD:0007185,GARD:0022524,GARD:0020718,GARD:0015605,Rare neurologic disease +GARD:0007185,GARD:0022524,GARD:0020718,GARD:0015607,Rare neurologic disease +GARD:0007185,GARD:0022524,GARD:0020718,GARD:0015211,Rare neurologic disease +GARD:0007185,GARD:0022524,GARD:0020718,GARD:0015604,Rare neurologic disease +GARD:0007185,GARD:0022535,GARD:0020718,GARD:0015606,Rare neoplastic disease +GARD:0007185,GARD:0022524,GARD:0020718,GARD:0016161,Rare neurologic disease +GARD:0007185,GARD:0022535,GARD:0020718,GARD:0015604,Rare neoplastic disease +GARD:0007185,GARD:0022524,GARD:0020718,GARD:0015606,Rare neurologic disease +GARD:0007186,GARD:0022524,GARD:0020742,,Rare neurologic disease +GARD:0007186,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0007186,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0007190,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0007190,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0007191,GARD:0022524,GARD:0007180,,Rare neurologic disease +GARD:0007191,GARD:0022535,GARD:0007180,,Rare neoplastic disease +GARD:0007193,GARD:0022524,GARD:0020742,,Rare neurologic disease +GARD:0007193,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0007193,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0007193,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007193,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0007193,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0007193,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0007193,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0007193,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0007195,GARD:0022524,GARD:0021937,,Rare neurologic disease +GARD:0007201,GARD:0022523,GARD:0021511,,Rare immune disease +GARD:0007201,GARD:0022531,GARD:0021511,,Rare genetic disease +GARD:0007206,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0007206,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0007206,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0007206,GARD:0022531,GARD:0022457,,Rare genetic disease +GARD:0007206,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0007206,GARD:0022506,GARD:0022457,,Rare hepatic disease +GARD:0007206,GARD:0022508,GARD:0022457,,Rare inborn errors of metabolism +GARD:0007206,GARD:0022531,GARD:0021615,,Rare genetic disease +GARD:0007206,GARD:0022524,GARD:0021615,,Rare neurologic disease +GARD:0007206,GARD:0022517,GARD:0022457,,Rare respiratory disease +GARD:0007206,GARD:0022536,GARD:0022457,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007207,GARD:0022524,GARD:0018890,GARD:0020505,Rare neurologic disease +GARD:0007207,GARD:0022508,GARD:0012511,GARD:0020508,Rare inborn errors of metabolism +GARD:0007207,GARD:0022536,GARD:0020940,GARD:0020508,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007207,GARD:0022531,GARD:0021615,GARD:0020504,Rare genetic disease +GARD:0007207,GARD:0022531,GARD:0018890,GARD:0020506,Rare genetic disease +GARD:0007207,GARD:0022536,GARD:0012511,GARD:0020507,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007207,GARD:0022531,GARD:0018890,GARD:0020507,Rare genetic disease +GARD:0007207,GARD:0022531,GARD:0019491,GARD:0020508,Rare genetic disease +GARD:0007207,GARD:0022524,GARD:0021615,GARD:0020507,Rare neurologic disease +GARD:0007207,GARD:0022531,GARD:0019546,GARD:0020507,Rare genetic disease +GARD:0007207,GARD:0022517,GARD:0020940,GARD:0020504,Rare respiratory disease +GARD:0007207,GARD:0022531,GARD:0021615,GARD:0020506,Rare genetic disease +GARD:0007207,GARD:0022536,GARD:0020940,GARD:0020505,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007207,GARD:0022524,GARD:0020240,GARD:0020505,Rare neurologic disease +GARD:0007207,GARD:0022524,GARD:0019491,GARD:0020505,Rare neurologic disease +GARD:0007207,GARD:0022531,GARD:0018890,GARD:0020508,Rare genetic disease +GARD:0007207,GARD:0022531,GARD:0019491,GARD:0020505,Rare genetic disease +GARD:0007207,GARD:0022531,GARD:0020280,GARD:0020506,Rare genetic disease +GARD:0007207,GARD:0022520,GARD:0019546,GARD:0020507,Rare ophthalmic disorder +GARD:0007207,GARD:0022508,GARD:0012511,GARD:0020504,Rare inborn errors of metabolism +GARD:0007207,GARD:0022524,GARD:0020240,GARD:0020508,Rare neurologic disease +GARD:0007207,GARD:0022524,GARD:0021615,GARD:0020504,Rare neurologic disease +GARD:0007207,GARD:0022536,GARD:0012511,GARD:0020508,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007207,GARD:0022531,GARD:0012511,GARD:0020504,Rare genetic disease +GARD:0007207,GARD:0022524,GARD:0020240,GARD:0020504,Rare neurologic disease +GARD:0007207,GARD:0022531,GARD:0019546,GARD:0020505,Rare genetic disease +GARD:0007207,GARD:0022531,GARD:0020280,GARD:0020507,Rare genetic disease +GARD:0007207,GARD:0022524,GARD:0019491,GARD:0020504,Rare neurologic disease +GARD:0007207,GARD:0022520,GARD:0019546,GARD:0020506,Rare ophthalmic disorder +GARD:0007207,GARD:0022524,GARD:0021615,GARD:0020506,Rare neurologic disease +GARD:0007207,GARD:0022531,GARD:0018890,GARD:0020504,Rare genetic disease +GARD:0007207,GARD:0022531,GARD:0020280,GARD:0020504,Rare genetic disease +GARD:0007207,GARD:0022524,GARD:0019491,GARD:0020508,Rare neurologic disease +GARD:0007207,GARD:0022531,GARD:0019546,GARD:0020504,Rare genetic disease +GARD:0007207,GARD:0022517,GARD:0020940,GARD:0020508,Rare respiratory disease +GARD:0007207,GARD:0022536,GARD:0012511,GARD:0020506,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007207,GARD:0022524,GARD:0021615,GARD:0020505,Rare neurologic disease +GARD:0007207,GARD:0022536,GARD:0012511,GARD:0020504,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007207,GARD:0022524,GARD:0019491,GARD:0020507,Rare neurologic disease +GARD:0007207,GARD:0022536,GARD:0020940,GARD:0020506,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007207,GARD:0022520,GARD:0019546,GARD:0020505,Rare ophthalmic disorder +GARD:0007207,GARD:0022531,GARD:0021615,GARD:0020507,Rare genetic disease +GARD:0007207,GARD:0022524,GARD:0019491,GARD:0020506,Rare neurologic disease +GARD:0007207,GARD:0022524,GARD:0018890,GARD:0020504,Rare neurologic disease +GARD:0007207,GARD:0022531,GARD:0019546,GARD:0020506,Rare genetic disease +GARD:0007207,GARD:0022536,GARD:0012511,GARD:0020505,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007207,GARD:0022531,GARD:0021615,GARD:0020508,Rare genetic disease +GARD:0007207,GARD:0022536,GARD:0020940,GARD:0020507,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007207,GARD:0022524,GARD:0018890,GARD:0020506,Rare neurologic disease +GARD:0007207,GARD:0022520,GARD:0019546,GARD:0020508,Rare ophthalmic disorder +GARD:0007207,GARD:0022508,GARD:0012511,GARD:0020507,Rare inborn errors of metabolism +GARD:0007207,GARD:0022531,GARD:0018890,GARD:0020505,Rare genetic disease +GARD:0007207,GARD:0022531,GARD:0012511,GARD:0020508,Rare genetic disease +GARD:0007207,GARD:0022531,GARD:0012511,GARD:0020505,Rare genetic disease +GARD:0007207,GARD:0022524,GARD:0020240,GARD:0020507,Rare neurologic disease +GARD:0007207,GARD:0022536,GARD:0020940,GARD:0020504,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007207,GARD:0022517,GARD:0020940,GARD:0020505,Rare respiratory disease +GARD:0007207,GARD:0022524,GARD:0018890,GARD:0020507,Rare neurologic disease +GARD:0007207,GARD:0022531,GARD:0012511,GARD:0020506,Rare genetic disease +GARD:0007207,GARD:0022508,GARD:0012511,GARD:0020505,Rare inborn errors of metabolism +GARD:0007207,GARD:0022531,GARD:0019546,GARD:0020508,Rare genetic disease +GARD:0007207,GARD:0022531,GARD:0020280,GARD:0020508,Rare genetic disease +GARD:0007207,GARD:0022531,GARD:0021615,GARD:0020505,Rare genetic disease +GARD:0007207,GARD:0022508,GARD:0012511,GARD:0020506,Rare inborn errors of metabolism +GARD:0007207,GARD:0022531,GARD:0020280,GARD:0020505,Rare genetic disease +GARD:0007207,GARD:0022517,GARD:0020940,GARD:0020506,Rare respiratory disease +GARD:0007207,GARD:0022531,GARD:0012511,GARD:0020507,Rare genetic disease +GARD:0007207,GARD:0022520,GARD:0019546,GARD:0020504,Rare ophthalmic disorder +GARD:0007207,GARD:0022524,GARD:0021615,GARD:0020508,Rare neurologic disease +GARD:0007207,GARD:0022517,GARD:0020940,GARD:0020507,Rare respiratory disease +GARD:0007207,GARD:0022531,GARD:0019491,GARD:0020507,Rare genetic disease +GARD:0007207,GARD:0022531,GARD:0019491,GARD:0020504,Rare genetic disease +GARD:0007207,GARD:0022531,GARD:0019491,GARD:0020506,Rare genetic disease +GARD:0007207,GARD:0022524,GARD:0020240,GARD:0020506,Rare neurologic disease +GARD:0007207,GARD:0022524,GARD:0018890,GARD:0020508,Rare neurologic disease +GARD:0007210,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0007219,GARD:0022531,GARD:0018890,GARD:0017334,Rare genetic disease +GARD:0007219,GARD:0022531,GARD:0020552,GARD:0017332,Rare genetic disease +GARD:0007219,GARD:0022531,GARD:0018968,GARD:0017332,Rare genetic disease +GARD:0007219,GARD:0022531,GARD:0018890,GARD:0017333,Rare genetic disease +GARD:0007219,GARD:0022524,GARD:0020552,GARD:0017333,Rare neurologic disease +GARD:0007219,GARD:0022524,GARD:0020552,GARD:0017332,Rare neurologic disease +GARD:0007219,GARD:0022531,GARD:0018968,GARD:0017333,Rare genetic disease +GARD:0007219,GARD:0022524,GARD:0018890,GARD:0017334,Rare neurologic disease +GARD:0007219,GARD:0022524,GARD:0020552,GARD:0017334,Rare neurologic disease +GARD:0007219,GARD:0022524,GARD:0018890,GARD:0017332,Rare neurologic disease +GARD:0007219,GARD:0022531,GARD:0020552,GARD:0017334,Rare genetic disease +GARD:0007219,GARD:0022508,GARD:0018968,GARD:0017333,Rare inborn errors of metabolism +GARD:0007219,GARD:0022531,GARD:0020552,GARD:0017333,Rare genetic disease +GARD:0007219,GARD:0022531,GARD:0018890,GARD:0017332,Rare genetic disease +GARD:0007219,GARD:0022531,GARD:0018968,GARD:0017334,Rare genetic disease +GARD:0007219,GARD:0022508,GARD:0018968,GARD:0017332,Rare inborn errors of metabolism +GARD:0007219,GARD:0022508,GARD:0018968,GARD:0017334,Rare inborn errors of metabolism +GARD:0007219,GARD:0022524,GARD:0018890,GARD:0017333,Rare neurologic disease +GARD:0007220,GARD:0022531,GARD:0018769,GARD:0016468,Rare genetic disease +GARD:0007220,GARD:0022510,GARD:0018769,GARD:0016468,Rare skin disease +GARD:0007220,GARD:0022513,GARD:0018769,GARD:0016453,Rare developmental defect during embryogenesis +GARD:0007220,GARD:0022527,GARD:0018769,GARD:0016453,Rare circulatory system disease +GARD:0007220,GARD:0022513,GARD:0018769,GARD:0016456,Rare developmental defect during embryogenesis +GARD:0007220,GARD:0022513,GARD:0018769,GARD:0003328,Rare developmental defect during embryogenesis +GARD:0007220,GARD:0022531,GARD:0018769,GARD:0016456,Rare genetic disease +GARD:0007220,GARD:0022527,GARD:0018769,GARD:0016456,Rare circulatory system disease +GARD:0007220,GARD:0022510,GARD:0018769,GARD:0016453,Rare skin disease +GARD:0007220,GARD:0022531,GARD:0018769,GARD:0016453,Rare genetic disease +GARD:0007220,GARD:0022531,GARD:0018769,GARD:0003328,Rare genetic disease +GARD:0007220,GARD:0022510,GARD:0018769,GARD:0016456,Rare skin disease +GARD:0007220,GARD:0022510,GARD:0018769,GARD:0003328,Rare skin disease +GARD:0007220,GARD:0022527,GARD:0018769,GARD:0003328,Rare circulatory system disease +GARD:0007220,GARD:0022513,GARD:0018769,GARD:0016468,Rare developmental defect during embryogenesis +GARD:0007220,GARD:0022527,GARD:0018769,GARD:0016468,Rare circulatory system disease +GARD:0007223,GARD:0022535,GARD:0010955,,Rare neoplastic disease +GARD:0007223,GARD:0022520,GARD:0010955,,Rare ophthalmic disorder +GARD:0007223,GARD:0022524,GARD:0010955,,Rare neurologic disease +GARD:0007223,GARD:0022519,GARD:0010955,,Rare surgical cardiac disease +GARD:0007223,GARD:0022521,GARD:0010955,,Rare endocrine disease +GARD:0007223,GARD:0022512,GARD:0010955,,Rare renal disease +GARD:0007223,GARD:0022515,GARD:0010955,,Rare cardiac disease +GARD:0007223,GARD:0022511,GARD:0010955,,Rare bone disease +GARD:0007223,GARD:0022527,GARD:0010955,,Rare circulatory system disease +GARD:0007223,GARD:0022510,GARD:0010955,,Rare skin disease +GARD:0007223,GARD:0022529,GARD:0010955,,Rare infertility +GARD:0007223,GARD:0022513,GARD:0010955,,Rare developmental defect during embryogenesis +GARD:0007223,GARD:0022536,GARD:0010955,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007223,GARD:0022531,GARD:0010955,,Rare genetic disease +GARD:0007224,GARD:0022531,GARD:0022109,,Rare genetic disease +GARD:0007224,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0007224,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0007224,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0007224,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0007224,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0007224,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0007224,GARD:0022520,GARD:0022109,,Rare ophthalmic disorder +GARD:0007224,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0007226,GARD:0022524,GARD:0002943,,Rare neurologic disease +GARD:0007226,GARD:0022512,GARD:0002943,,Rare renal disease +GARD:0007226,GARD:0022522,GARD:0002943,,Rare hematologic disease +GARD:0007226,GARD:0022508,GARD:0002943,,Rare inborn errors of metabolism +GARD:0007226,GARD:0022531,GARD:0002943,,Rare genetic disease +GARD:0007226,GARD:0022536,GARD:0002943,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007239,GARD:0022524,GARD:0019832,GARD:0015213,Rare neurologic disease +GARD:0007239,GARD:0022531,GARD:0022298,GARD:0015213,Rare genetic disease +GARD:0007239,GARD:0022520,GARD:0019527,GARD:0015213,Rare ophthalmic disorder +GARD:0007239,GARD:0022513,GARD:0006317,GARD:0015213,Rare developmental defect during embryogenesis +GARD:0007239,GARD:0022513,GARD:0019909,GARD:0015213,Rare developmental defect during embryogenesis +GARD:0007239,GARD:0022513,GARD:0019200,GARD:0015213,Rare developmental defect during embryogenesis +GARD:0007239,GARD:0022531,GARD:0022170,GARD:0015213,Rare genetic disease +GARD:0007239,GARD:0022511,GARD:0019200,GARD:0015213,Rare bone disease +GARD:0007239,GARD:0022531,GARD:0006317,GARD:0015213,Rare genetic disease +GARD:0007239,GARD:0022531,GARD:0022441,GARD:0015213,Rare genetic disease +GARD:0007239,GARD:0022510,GARD:0022298,GARD:0015213,Rare skin disease +GARD:0007239,GARD:0022513,GARD:0019832,GARD:0015213,Rare developmental defect during embryogenesis +GARD:0007239,GARD:0022527,GARD:0022298,GARD:0015213,Rare circulatory system disease +GARD:0007239,GARD:0022513,GARD:0022298,GARD:0015213,Rare developmental defect during embryogenesis +GARD:0007239,GARD:0022526,GARD:0019909,GARD:0015213,Rare odontologic disease +GARD:0007239,GARD:0022531,GARD:0019200,GARD:0015213,Rare genetic disease +GARD:0007239,GARD:0022531,GARD:0020302,GARD:0015213,Rare genetic disease +GARD:0007239,GARD:0022510,GARD:0006317,GARD:0015213,Rare skin disease +GARD:0007245,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0007245,GARD:0022531,GARD:0022158,,Rare genetic disease +GARD:0007245,GARD:0022520,GARD:0022118,,Rare ophthalmic disorder +GARD:0007245,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0007245,GARD:0022531,GARD:0020360,,Rare genetic disease +GARD:0007245,GARD:0022524,GARD:0020360,,Rare neurologic disease +GARD:0007245,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0007251,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0007251,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0007251,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0007251,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0007251,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0007251,GARD:0022531,GARD:0020289,,Rare genetic disease +GARD:0007251,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0007251,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0007251,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0007251,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0007251,GARD:0022511,GARD:0018892,,Rare bone disease +GARD:0007251,GARD:0022535,GARD:0018892,,Rare neoplastic disease +GARD:0007252,GARD:0022509,GARD:0018757,,Rare infectious disease +GARD:0007264,GARD:0022507,GARD:0022507,,Rare maxillo-facial surgical disease +GARD:0007269,GARD:0022508,GARD:0007837,,Rare inborn errors of metabolism +GARD:0007269,GARD:0022531,GARD:0007837,,Rare genetic disease +GARD:0007284,GARD:0022535,GARD:0020547,,Rare neoplastic disease +GARD:0007284,GARD:0022511,GARD:0020547,,Rare bone disease +GARD:0007284,GARD:0022536,GARD:0022063,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007295,GARD:0022514,GARD:0020201,GARD:0009362,Rare gynecologic or obstetric disease +GARD:0007295,GARD:0022535,GARD:0020201,GARD:0021650,Rare neoplastic disease +GARD:0007295,GARD:0022514,GARD:0020201,GARD:0021650,Rare gynecologic or obstetric disease +GARD:0007295,GARD:0022535,GARD:0020201,GARD:0009362,Rare neoplastic disease +GARD:0007296,GARD:0022514,GARD:0009362,,Rare gynecologic or obstetric disease +GARD:0007296,GARD:0022535,GARD:0009362,,Rare neoplastic disease +GARD:0007299,GARD:0022531,GARD:0020667,GARD:0015101,Rare genetic disease +GARD:0007299,GARD:0022510,GARD:0019010,GARD:0015805,Rare skin disease +GARD:0007299,GARD:0022511,GARD:0020667,GARD:0015805,Rare bone disease +GARD:0007299,GARD:0022511,GARD:0020667,GARD:0015216,Rare bone disease +GARD:0007299,GARD:0022510,GARD:0019010,GARD:0015216,Rare skin disease +GARD:0007299,GARD:0022531,GARD:0020667,GARD:0015805,Rare genetic disease +GARD:0007299,GARD:0022513,GARD:0020667,GARD:0015216,Rare developmental defect during embryogenesis +GARD:0007299,GARD:0022531,GARD:0021970,GARD:0015805,Rare genetic disease +GARD:0007299,GARD:0022513,GARD:0020667,GARD:0015805,Rare developmental defect during embryogenesis +GARD:0007299,GARD:0022511,GARD:0020667,GARD:0015101,Rare bone disease +GARD:0007299,GARD:0022531,GARD:0021970,GARD:0015216,Rare genetic disease +GARD:0007299,GARD:0022531,GARD:0020667,GARD:0015216,Rare genetic disease +GARD:0007299,GARD:0022531,GARD:0021970,GARD:0015101,Rare genetic disease +GARD:0007299,GARD:0022510,GARD:0019010,GARD:0015101,Rare skin disease +GARD:0007299,GARD:0022513,GARD:0020667,GARD:0015101,Rare developmental defect during embryogenesis +GARD:0007303,GARD:0022535,GARD:0012772,,Rare neoplastic disease +GARD:0007303,GARD:0022514,GARD:0012772,,Rare gynecologic or obstetric disease +GARD:0007305,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0007305,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0007305,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0007305,GARD:0022521,GARD:0019274,,Rare endocrine disease +GARD:0007305,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0007305,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007305,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0007305,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0007305,GARD:0022531,GARD:0019274,,Rare genetic disease +GARD:0007305,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007305,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0007305,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0007305,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0007305,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0007305,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0007305,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0007305,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0007312,GARD:0022524,GARD:0021272,,Rare neurologic disease +GARD:0007321,GARD:0022510,GARD:0021709,GARD:0019137,Rare skin disease +GARD:0007321,GARD:0022510,GARD:0021709,GARD:0019138,Rare skin disease +GARD:0007321,GARD:0022510,GARD:0021709,GARD:0019140,Rare skin disease +GARD:0007321,GARD:0022510,GARD:0021709,GARD:0019139,Rare skin disease +GARD:0007321,GARD:0022510,GARD:0021709,GARD:0019141,Rare skin disease +GARD:0007323,GARD:0022509,GARD:0020047,,Rare infectious disease +GARD:0007324,GARD:0022535,GARD:0011984,,Rare neoplastic disease +GARD:0007324,GARD:0022521,GARD:0011984,,Rare endocrine disease +GARD:0007324,GARD:0022531,GARD:0011984,,Rare genetic disease +GARD:0007325,GARD:0022531,GARD:0020372,,Rare genetic disease +GARD:0007325,GARD:0022524,GARD:0020372,,Rare neurologic disease +GARD:0007325,GARD:0022531,GARD:0019563,,Rare genetic disease +GARD:0007325,GARD:0022524,GARD:0019563,,Rare neurologic disease +GARD:0007326,GARD:0022524,GARD:0022524,GARD:0022499,Rare neurologic disease +GARD:0007326,GARD:0022524,GARD:0022524,GARD:0010009,Rare neurologic disease +GARD:0007326,GARD:0022524,GARD:0022524,GARD:0022493,Rare neurologic disease +GARD:0007326,GARD:0022524,GARD:0022524,GARD:0018912,Rare neurologic disease +GARD:0007326,GARD:0022524,GARD:0022524,GARD:0020414,Rare neurologic disease +GARD:0007326,GARD:0022524,GARD:0022524,GARD:0006851,Rare neurologic disease +GARD:0007329,GARD:0022521,GARD:0019764,,Rare endocrine disease +GARD:0007329,GARD:0022521,GARD:0020225,,Rare endocrine disease +GARD:0007329,GARD:0022535,GARD:0019764,,Rare neoplastic disease +GARD:0007335,GARD:0022522,GARD:0020590,,Rare hematologic disease +GARD:0007337,GARD:0022508,GARD:0021342,GARD:0015958,Rare inborn errors of metabolism +GARD:0007337,GARD:0022531,GARD:0020030,GARD:0015958,Rare genetic disease +GARD:0007337,GARD:0022522,GARD:0020058,GARD:0015958,Rare hematologic disease +GARD:0007337,GARD:0022536,GARD:0020058,GARD:0015958,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007337,GARD:0022522,GARD:0020236,GARD:0015958,Rare hematologic disease +GARD:0007337,GARD:0022531,GARD:0021342,GARD:0015958,Rare genetic disease +GARD:0007338,GARD:0022524,GARD:0020090,,Rare neurologic disease +GARD:0007338,GARD:0022524,GARD:0019818,,Rare neurologic disease +GARD:0007341,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0007341,GARD:0022531,GARD:0022109,,Rare genetic disease +GARD:0007341,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0007341,GARD:0022520,GARD:0022109,,Rare ophthalmic disorder +GARD:0007341,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0007341,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0007341,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0007341,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0007341,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0007341,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0007341,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0007341,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0007341,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007341,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0007341,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007341,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0007342,GARD:0022527,GARD:0017828,,Rare circulatory system disease +GARD:0007342,GARD:0022531,GARD:0017828,,Rare genetic disease +GARD:0007342,GARD:0022513,GARD:0017828,,Rare developmental defect during embryogenesis +GARD:0007342,GARD:0022519,GARD:0017828,,Rare surgical cardiac disease +GARD:0007343,GARD:0022531,GARD:0019453,,Rare genetic disease +GARD:0007343,GARD:0022531,GARD:0021508,,Rare genetic disease +GARD:0007343,GARD:0022522,GARD:0019453,,Rare hematologic disease +GARD:0007343,GARD:0022516,GARD:0019850,,Rare gastroenterologic disease +GARD:0007343,GARD:0022531,GARD:0020755,,Rare genetic disease +GARD:0007343,GARD:0022508,GARD:0020755,,Rare inborn errors of metabolism +GARD:0007343,GARD:0022523,GARD:0021508,,Rare immune disease +GARD:0007343,GARD:0022531,GARD:0020223,,Rare genetic disease +GARD:0007343,GARD:0022521,GARD:0020223,,Rare endocrine disease +GARD:0007343,GARD:0022531,GARD:0019850,,Rare genetic disease +GARD:0007343,GARD:0022536,GARD:0021508,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007347,GARD:0022510,GARD:0021104,GARD:0012863,Rare skin disease +GARD:0007347,GARD:0022531,GARD:0021104,GARD:0012862,Rare genetic disease +GARD:0007347,GARD:0022531,GARD:0021104,GARD:0012863,Rare genetic disease +GARD:0007347,GARD:0022510,GARD:0021104,GARD:0012862,Rare skin disease +GARD:0007354,GARD:0022510,GARD:0018833,,Rare skin disease +GARD:0007355,GARD:0022510,GARD:0019028,GARD:0004270,Rare skin disease +GARD:0007359,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0007359,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0007359,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0007359,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0007359,GARD:0022518,GARD:0020212,,Rare surgical thoracic disease +GARD:0007360,GARD:0022524,GARD:0020416,GARD:0021831,Rare neurologic disease +GARD:0007360,GARD:0022536,GARD:0022292,GARD:0021830,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007360,GARD:0022512,GARD:0022292,GARD:0021831,Rare renal disease +GARD:0007360,GARD:0022525,GARD:0019982,GARD:0021830,Rare systemic or rheumatologic disease +GARD:0007360,GARD:0022527,GARD:0019982,GARD:0021831,Rare circulatory system disease +GARD:0007360,GARD:0022536,GARD:0022292,GARD:0021831,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007360,GARD:0022512,GARD:0022292,GARD:0021830,Rare renal disease +GARD:0007360,GARD:0022527,GARD:0019982,GARD:0021830,Rare circulatory system disease +GARD:0007360,GARD:0022524,GARD:0020416,GARD:0021830,Rare neurologic disease +GARD:0007360,GARD:0022525,GARD:0019982,GARD:0021831,Rare systemic or rheumatologic disease +GARD:0007371,GARD:0022524,GARD:0012724,,Rare neurologic disease +GARD:0007371,GARD:0022531,GARD:0012724,,Rare genetic disease +GARD:0007371,GARD:0022513,GARD:0012724,,Rare developmental defect during embryogenesis +GARD:0007377,GARD:0022531,GARD:0016484,GARD:0015599,Rare genetic disease +GARD:0007377,GARD:0022520,GARD:0016484,GARD:0015599,Rare ophthalmic disorder +GARD:0007377,GARD:0022513,GARD:0016484,GARD:0015599,Rare developmental defect during embryogenesis +GARD:0007378,GARD:0022516,GARD:0019847,,Rare gastroenterologic disease +GARD:0007378,GARD:0022531,GARD:0021012,,Rare genetic disease +GARD:0007378,GARD:0022531,GARD:0021548,,Rare genetic disease +GARD:0007378,GARD:0022535,GARD:0019847,,Rare neoplastic disease +GARD:0007378,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0007378,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0007378,GARD:0022531,GARD:0022360,,Rare genetic disease +GARD:0007378,GARD:0022535,GARD:0022360,,Rare neoplastic disease +GARD:0007378,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0007378,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0007378,GARD:0022531,GARD:0019847,,Rare genetic disease +GARD:0007378,GARD:0022536,GARD:0019847,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007378,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0007378,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0007380,GARD:0022531,GARD:0019911,GARD:0016808,Rare genetic disease +GARD:0007380,GARD:0022511,GARD:0019911,GARD:0016807,Rare bone disease +GARD:0007380,GARD:0022531,GARD:0019543,GARD:0016808,Rare genetic disease +GARD:0007380,GARD:0022520,GARD:0019543,GARD:0016807,Rare ophthalmic disorder +GARD:0007380,GARD:0022513,GARD:0019911,GARD:0016809,Rare developmental defect during embryogenesis +GARD:0007380,GARD:0022513,GARD:0019911,GARD:0016807,Rare developmental defect during embryogenesis +GARD:0007380,GARD:0022513,GARD:0019911,GARD:0016808,Rare developmental defect during embryogenesis +GARD:0007380,GARD:0022520,GARD:0019543,GARD:0016808,Rare ophthalmic disorder +GARD:0007380,GARD:0022511,GARD:0019911,GARD:0016809,Rare bone disease +GARD:0007380,GARD:0022520,GARD:0019543,GARD:0016809,Rare ophthalmic disorder +GARD:0007380,GARD:0022511,GARD:0019911,GARD:0016808,Rare bone disease +GARD:0007380,GARD:0022531,GARD:0019911,GARD:0016807,Rare genetic disease +GARD:0007380,GARD:0022531,GARD:0019543,GARD:0016809,Rare genetic disease +GARD:0007380,GARD:0022531,GARD:0019911,GARD:0016809,Rare genetic disease +GARD:0007380,GARD:0022531,GARD:0019543,GARD:0016807,Rare genetic disease +GARD:0007381,GARD:0022527,GARD:0020010,,Rare circulatory system disease +GARD:0007381,GARD:0022531,GARD:0020010,,Rare genetic disease +GARD:0007381,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007381,GARD:0022512,GARD:0020010,,Rare renal disease +GARD:0007383,GARD:0022531,GARD:0021126,GARD:0010324,Rare genetic disease +GARD:0007383,GARD:0022531,GARD:0021126,GARD:0019027,Rare genetic disease +GARD:0007383,GARD:0022508,GARD:0021126,GARD:0021166,Rare inborn errors of metabolism +GARD:0007383,GARD:0022524,GARD:0020552,GARD:0018982,Rare neurologic disease +GARD:0007383,GARD:0022531,GARD:0021126,GARD:0018982,Rare genetic disease +GARD:0007383,GARD:0022531,GARD:0018890,GARD:0019027,Rare genetic disease +GARD:0007383,GARD:0022531,GARD:0018890,GARD:0018982,Rare genetic disease +GARD:0007383,GARD:0022524,GARD:0018890,GARD:0021166,Rare neurologic disease +GARD:0007383,GARD:0022531,GARD:0020552,GARD:0010324,Rare genetic disease +GARD:0007383,GARD:0022524,GARD:0020552,GARD:0010324,Rare neurologic disease +GARD:0007383,GARD:0022531,GARD:0018890,GARD:0021166,Rare genetic disease +GARD:0007383,GARD:0022531,GARD:0020552,GARD:0018982,Rare genetic disease +GARD:0007383,GARD:0022531,GARD:0020552,GARD:0019027,Rare genetic disease +GARD:0007383,GARD:0022524,GARD:0018890,GARD:0010324,Rare neurologic disease +GARD:0007383,GARD:0022524,GARD:0020552,GARD:0021166,Rare neurologic disease +GARD:0007383,GARD:0022531,GARD:0018890,GARD:0010324,Rare genetic disease +GARD:0007383,GARD:0022508,GARD:0021126,GARD:0010324,Rare inborn errors of metabolism +GARD:0007383,GARD:0022508,GARD:0021126,GARD:0019027,Rare inborn errors of metabolism +GARD:0007383,GARD:0022531,GARD:0020552,GARD:0021166,Rare genetic disease +GARD:0007383,GARD:0022524,GARD:0018890,GARD:0018982,Rare neurologic disease +GARD:0007383,GARD:0022508,GARD:0021126,GARD:0018982,Rare inborn errors of metabolism +GARD:0007383,GARD:0022524,GARD:0018890,GARD:0019027,Rare neurologic disease +GARD:0007383,GARD:0022524,GARD:0020552,GARD:0019027,Rare neurologic disease +GARD:0007383,GARD:0022531,GARD:0021126,GARD:0021166,Rare genetic disease +GARD:0007385,GARD:0022535,GARD:0022315,,Rare neoplastic disease +GARD:0007385,GARD:0022521,GARD:0022315,,Rare endocrine disease +GARD:0007387,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0007387,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0007387,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0007387,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0007387,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0007387,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0007387,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0007387,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0007387,GARD:0022520,GARD:0019531,,Rare ophthalmic disorder +GARD:0007387,GARD:0022531,GARD:0019531,,Rare genetic disease +GARD:0007387,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0007387,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0007389,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0007389,GARD:0022522,GARD:0019460,,Rare hematologic disease +GARD:0007389,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0007389,GARD:0022524,GARD:0020370,,Rare neurologic disease +GARD:0007389,GARD:0022531,GARD:0019460,,Rare genetic disease +GARD:0007389,GARD:0022531,GARD:0020370,,Rare genetic disease +GARD:0007389,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0007389,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0007392,GARD:0022524,GARD:0021268,GARD:0018395,Rare neurologic disease +GARD:0007392,GARD:0022531,GARD:0021268,GARD:0016113,Rare genetic disease +GARD:0007392,GARD:0022531,GARD:0008436,GARD:0015322,Rare genetic disease +GARD:0007392,GARD:0022524,GARD:0008436,GARD:0016113,Rare neurologic disease +GARD:0007392,GARD:0022531,GARD:0021268,GARD:0018395,Rare genetic disease +GARD:0007392,GARD:0022524,GARD:0021268,GARD:0015322,Rare neurologic disease +GARD:0007392,GARD:0022524,GARD:0008436,GARD:0015322,Rare neurologic disease +GARD:0007392,GARD:0022524,GARD:0021268,GARD:0016113,Rare neurologic disease +GARD:0007392,GARD:0022531,GARD:0008436,GARD:0018395,Rare genetic disease +GARD:0007392,GARD:0022524,GARD:0008436,GARD:0018395,Rare neurologic disease +GARD:0007392,GARD:0022531,GARD:0008436,GARD:0016113,Rare genetic disease +GARD:0007392,GARD:0022531,GARD:0021268,GARD:0015322,Rare genetic disease +GARD:0007396,GARD:0022525,GARD:0020257,,Rare systemic or rheumatologic disease +GARD:0007399,GARD:0022531,GARD:0012556,,Rare genetic disease +GARD:0007399,GARD:0022521,GARD:0012556,,Rare endocrine disease +GARD:0007401,GARD:0022531,GARD:0020262,,Rare genetic disease +GARD:0007401,GARD:0022510,GARD:0018986,,Rare skin disease +GARD:0007403,GARD:0022514,GARD:0006498,,Rare gynecologic or obstetric disease +GARD:0007403,GARD:0022535,GARD:0006498,,Rare neoplastic disease +GARD:0007411,GARD:0022522,GARD:0019440,,Rare hematologic disease +GARD:0007411,GARD:0022524,GARD:0020409,,Rare neurologic disease +GARD:0007411,GARD:0022535,GARD:0019440,,Rare neoplastic disease +GARD:0007411,GARD:0022536,GARD:0019440,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007411,GARD:0022524,GARD:0020417,,Rare neurologic disease +GARD:0007411,GARD:0022524,GARD:0020419,,Rare neurologic disease +GARD:0007412,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0007412,GARD:0022514,GARD:0020196,,Rare gynecologic or obstetric disease +GARD:0007412,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0007412,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0007413,GARD:0022524,GARD:0019479,,Rare neurologic disease +GARD:0007413,GARD:0022524,GARD:0019386,,Rare neurologic disease +GARD:0007415,GARD:0022525,GARD:0021830,,Rare systemic or rheumatologic disease +GARD:0007415,GARD:0022527,GARD:0021830,,Rare circulatory system disease +GARD:0007415,GARD:0022524,GARD:0021830,,Rare neurologic disease +GARD:0007415,GARD:0022536,GARD:0021830,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007415,GARD:0022512,GARD:0021830,,Rare renal disease +GARD:0007417,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0007417,GARD:0022512,GARD:0022292,,Rare renal disease +GARD:0007417,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0007417,GARD:0022536,GARD:0022292,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007422,GARD:0022535,GARD:0009319,,Rare neoplastic disease +GARD:0007422,GARD:0022522,GARD:0019466,,Rare hematologic disease +GARD:0007422,GARD:0022522,GARD:0009319,,Rare hematologic disease +GARD:0007422,GARD:0022536,GARD:0009319,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007425,GARD:0022536,GARD:0022291,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007425,GARD:0022512,GARD:0022291,,Rare renal disease +GARD:0007425,GARD:0022525,GARD:0009128,,Rare systemic or rheumatologic disease +GARD:0007425,GARD:0022524,GARD:0009128,,Rare neurologic disease +GARD:0007430,GARD:0022531,GARD:0020987,GARD:0021386,Rare genetic disease +GARD:0007430,GARD:0022524,GARD:0020088,GARD:0002258,Rare neurologic disease +GARD:0007430,GARD:0022524,GARD:0020987,GARD:0021386,Rare neurologic disease +GARD:0007430,GARD:0022524,GARD:0020987,GARD:0002258,Rare neurologic disease +GARD:0007430,GARD:0022531,GARD:0020088,GARD:0021386,Rare genetic disease +GARD:0007430,GARD:0022531,GARD:0020088,GARD:0002258,Rare genetic disease +GARD:0007430,GARD:0022513,GARD:0020987,GARD:0002258,Rare developmental defect during embryogenesis +GARD:0007430,GARD:0022513,GARD:0020987,GARD:0021386,Rare developmental defect during embryogenesis +GARD:0007430,GARD:0022524,GARD:0020088,GARD:0021386,Rare neurologic disease +GARD:0007430,GARD:0022531,GARD:0020987,GARD:0002258,Rare genetic disease +GARD:0007433,GARD:0022508,GARD:0019256,GARD:0017749,Rare inborn errors of metabolism +GARD:0007433,GARD:0022531,GARD:0019256,GARD:0017750,Rare genetic disease +GARD:0007433,GARD:0022512,GARD:0019256,GARD:0017749,Rare renal disease +GARD:0007433,GARD:0022510,GARD:0019256,GARD:0017750,Rare skin disease +GARD:0007433,GARD:0022531,GARD:0019256,GARD:0017749,Rare genetic disease +GARD:0007433,GARD:0022512,GARD:0019256,GARD:0017750,Rare renal disease +GARD:0007433,GARD:0022506,GARD:0019256,GARD:0017750,Rare hepatic disease +GARD:0007433,GARD:0022506,GARD:0019256,GARD:0017749,Rare hepatic disease +GARD:0007433,GARD:0022508,GARD:0019256,GARD:0017750,Rare inborn errors of metabolism +GARD:0007433,GARD:0022510,GARD:0019256,GARD:0017749,Rare skin disease +GARD:0007439,GARD:0022532,GARD:0021804,,Rare urogenital disease +GARD:0007439,GARD:0022531,GARD:0021804,,Rare genetic disease +GARD:0007439,GARD:0022513,GARD:0021804,,Rare developmental defect during embryogenesis +GARD:0007439,GARD:0022536,GARD:0021804,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007439,GARD:0022512,GARD:0021804,,Rare renal disease +GARD:0007446,GARD:0022521,GARD:0019146,GARD:0016546,Rare endocrine disease +GARD:0007446,GARD:0022521,GARD:0019146,GARD:0020141,Rare endocrine disease +GARD:0007459,GARD:0022506,GARD:0019791,GARD:0015777,Rare hepatic disease +GARD:0007459,GARD:0022536,GARD:0022060,GARD:0015777,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007459,GARD:0022536,GARD:0022060,GARD:0015601,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007459,GARD:0022536,GARD:0022060,GARD:0015602,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007459,GARD:0022506,GARD:0019791,GARD:0015776,Rare hepatic disease +GARD:0007459,GARD:0022536,GARD:0022060,GARD:0015043,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007459,GARD:0022506,GARD:0019791,GARD:0015043,Rare hepatic disease +GARD:0007459,GARD:0022536,GARD:0022060,GARD:0015776,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007459,GARD:0022506,GARD:0019791,GARD:0015601,Rare hepatic disease +GARD:0007459,GARD:0022506,GARD:0019791,GARD:0015602,Rare hepatic disease +GARD:0007467,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0007467,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0007467,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0007467,GARD:0022531,GARD:0019204,,Rare genetic disease +GARD:0007467,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0007467,GARD:0022531,GARD:0021243,,Rare genetic disease +GARD:0007467,GARD:0022511,GARD:0019204,,Rare bone disease +GARD:0007467,GARD:0022513,GARD:0019204,,Rare developmental defect during embryogenesis +GARD:0007467,GARD:0022531,GARD:0019017,,Rare genetic disease +GARD:0007467,GARD:0022510,GARD:0019017,,Rare skin disease +GARD:0007468,GARD:0022524,GARD:0019433,,Rare neurologic disease +GARD:0007468,GARD:0022509,GARD:0019433,,Rare infectious disease +GARD:0007471,GARD:0022531,GARD:0019546,GARD:0017182,Rare genetic disease +GARD:0007471,GARD:0022531,GARD:0021040,GARD:0004507,Rare genetic disease +GARD:0007471,GARD:0022524,GARD:0021268,GARD:0017182,Rare neurologic disease +GARD:0007471,GARD:0022531,GARD:0021268,GARD:0004507,Rare genetic disease +GARD:0007471,GARD:0022531,GARD:0019546,GARD:0004507,Rare genetic disease +GARD:0007471,GARD:0022531,GARD:0021040,GARD:0017182,Rare genetic disease +GARD:0007471,GARD:0022520,GARD:0019546,GARD:0017182,Rare ophthalmic disorder +GARD:0007471,GARD:0022524,GARD:0021268,GARD:0004507,Rare neurologic disease +GARD:0007471,GARD:0022524,GARD:0019485,GARD:0017182,Rare neurologic disease +GARD:0007471,GARD:0022524,GARD:0019485,GARD:0004507,Rare neurologic disease +GARD:0007471,GARD:0022531,GARD:0021268,GARD:0017182,Rare genetic disease +GARD:0007471,GARD:0022520,GARD:0019546,GARD:0004507,Rare ophthalmic disorder +GARD:0007473,GARD:0022531,GARD:0018963,,Rare genetic disease +GARD:0007473,GARD:0022510,GARD:0019015,,Rare skin disease +GARD:0007473,GARD:0022513,GARD:0022298,,Rare developmental defect during embryogenesis +GARD:0007473,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0007473,GARD:0022531,GARD:0022298,,Rare genetic disease +GARD:0007473,GARD:0022508,GARD:0018963,,Rare inborn errors of metabolism +GARD:0007473,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0007473,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0007473,GARD:0022510,GARD:0022298,,Rare skin disease +GARD:0007473,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0007473,GARD:0022527,GARD:0022298,,Rare circulatory system disease +GARD:0007473,GARD:0022531,GARD:0019015,,Rare genetic disease +GARD:0007475,GARD:0022513,GARD:0022021,,Rare developmental defect during embryogenesis +GARD:0007475,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0007475,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0007475,GARD:0022524,GARD:0020084,,Rare neurologic disease +GARD:0007475,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0007475,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0007475,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0007475,GARD:0022531,GARD:0021922,,Rare genetic disease +GARD:0007475,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0007475,GARD:0022527,GARD:0020465,,Rare circulatory system disease +GARD:0007475,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0007475,GARD:0022513,GARD:0020465,,Rare developmental defect during embryogenesis +GARD:0007475,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0007475,GARD:0022531,GARD:0022021,,Rare genetic disease +GARD:0007475,GARD:0022531,GARD:0020084,,Rare genetic disease +GARD:0007475,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0007475,GARD:0022511,GARD:0022021,,Rare bone disease +GARD:0007479,GARD:0022536,GARD:0021804,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007479,GARD:0022512,GARD:0021804,,Rare renal disease +GARD:0007479,GARD:0022532,GARD:0021804,,Rare urogenital disease +GARD:0007479,GARD:0022513,GARD:0021804,,Rare developmental defect during embryogenesis +GARD:0007479,GARD:0022531,GARD:0021804,,Rare genetic disease +GARD:0007482,GARD:0022524,GARD:0018979,,Rare neurologic disease +GARD:0007482,GARD:0022531,GARD:0018979,,Rare genetic disease +GARD:0007482,GARD:0022508,GARD:0018979,,Rare inborn errors of metabolism +GARD:0007486,GARD:0022531,GARD:0005770,,Rare genetic disease +GARD:0007486,GARD:0022520,GARD:0005770,,Rare ophthalmic disorder +GARD:0007486,GARD:0022510,GARD:0005770,,Rare skin disease +GARD:0007486,GARD:0022512,GARD:0005770,,Rare renal disease +GARD:0007486,GARD:0022511,GARD:0005770,,Rare bone disease +GARD:0007486,GARD:0022521,GARD:0005770,,Rare endocrine disease +GARD:0007486,GARD:0022513,GARD:0005770,,Rare developmental defect during embryogenesis +GARD:0007486,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0007486,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0007488,GARD:0022534,GARD:0020100,,Rare abdominal surgical disease +GARD:0007488,GARD:0022535,GARD:0020100,,Rare neoplastic disease +GARD:0007499,GARD:0022517,GARD:0020932,,Rare respiratory disease +GARD:0007499,GARD:0022536,GARD:0020932,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007501,GARD:0022517,GARD:0018904,GARD:0016531,Rare respiratory disease +GARD:0007501,GARD:0022536,GARD:0022064,GARD:0021027,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007501,GARD:0022536,GARD:0022064,GARD:0021026,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007501,GARD:0022517,GARD:0018904,GARD:0021027,Rare respiratory disease +GARD:0007501,GARD:0022536,GARD:0022064,GARD:0016531,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007501,GARD:0022517,GARD:0018904,GARD:0021026,Rare respiratory disease +GARD:0007503,GARD:0022520,GARD:0019111,,Rare ophthalmic disorder +GARD:0007503,GARD:0022520,GARD:0022100,,Rare ophthalmic disorder +GARD:0007510,GARD:0022525,GARD:0021454,GARD:0022223,Rare systemic or rheumatologic disease +GARD:0007510,GARD:0022510,GARD:0021162,GARD:0022223,Rare skin disease +GARD:0007510,GARD:0022525,GARD:0021454,GARD:0022220,Rare systemic or rheumatologic disease +GARD:0007510,GARD:0022525,GARD:0021454,GARD:0022221,Rare systemic or rheumatologic disease +GARD:0007510,GARD:0022510,GARD:0021162,GARD:0022220,Rare skin disease +GARD:0007510,GARD:0022510,GARD:0021162,GARD:0022222,Rare skin disease +GARD:0007510,GARD:0022510,GARD:0021162,GARD:0022221,Rare skin disease +GARD:0007510,GARD:0022525,GARD:0021454,GARD:0022222,Rare systemic or rheumatologic disease +GARD:0007512,GARD:0022531,GARD:0018956,GARD:0017537,Rare genetic disease +GARD:0007512,GARD:0022508,GARD:0018956,GARD:0017537,Rare inborn errors of metabolism +GARD:0007512,GARD:0022531,GARD:0018956,GARD:0017536,Rare genetic disease +GARD:0007512,GARD:0022531,GARD:0018956,GARD:0017538,Rare genetic disease +GARD:0007512,GARD:0022508,GARD:0018956,GARD:0017536,Rare inborn errors of metabolism +GARD:0007512,GARD:0022508,GARD:0018956,GARD:0017538,Rare inborn errors of metabolism +GARD:0007513,GARD:0022524,GARD:0020555,GARD:0017236,Rare neurologic disease +GARD:0007513,GARD:0022524,GARD:0022440,GARD:0009888,Rare neurologic disease +GARD:0007513,GARD:0022531,GARD:0022440,GARD:0003263,Rare genetic disease +GARD:0007513,GARD:0022531,GARD:0020556,GARD:0016712,Rare genetic disease +GARD:0007513,GARD:0022524,GARD:0020556,GARD:0017236,Rare neurologic disease +GARD:0007513,GARD:0022531,GARD:0020556,GARD:0003263,Rare genetic disease +GARD:0007513,GARD:0022524,GARD:0022440,GARD:0004620,Rare neurologic disease +GARD:0007513,GARD:0022524,GARD:0020556,GARD:0003263,Rare neurologic disease +GARD:0007513,GARD:0022531,GARD:0020752,GARD:0009888,Rare genetic disease +GARD:0007513,GARD:0022531,GARD:0022440,GARD:0009888,Rare genetic disease +GARD:0007513,GARD:0022524,GARD:0022440,GARD:0016712,Rare neurologic disease +GARD:0007513,GARD:0022524,GARD:0020555,GARD:0003263,Rare neurologic disease +GARD:0007513,GARD:0022524,GARD:0020556,GARD:0004620,Rare neurologic disease +GARD:0007513,GARD:0022531,GARD:0020555,GARD:0009888,Rare genetic disease +GARD:0007513,GARD:0022531,GARD:0022440,GARD:0004620,Rare genetic disease +GARD:0007513,GARD:0022508,GARD:0020752,GARD:0009888,Rare inborn errors of metabolism +GARD:0007513,GARD:0022531,GARD:0020752,GARD:0016712,Rare genetic disease +GARD:0007513,GARD:0022508,GARD:0020752,GARD:0003263,Rare inborn errors of metabolism +GARD:0007513,GARD:0022531,GARD:0020555,GARD:0017236,Rare genetic disease +GARD:0007513,GARD:0022531,GARD:0020752,GARD:0017236,Rare genetic disease +GARD:0007513,GARD:0022524,GARD:0022440,GARD:0017236,Rare neurologic disease +GARD:0007513,GARD:0022508,GARD:0020752,GARD:0017237,Rare inborn errors of metabolism +GARD:0007513,GARD:0022524,GARD:0020555,GARD:0017237,Rare neurologic disease +GARD:0007513,GARD:0022524,GARD:0022440,GARD:0003263,Rare neurologic disease +GARD:0007513,GARD:0022531,GARD:0020556,GARD:0009888,Rare genetic disease +GARD:0007513,GARD:0022531,GARD:0020556,GARD:0017236,Rare genetic disease +GARD:0007513,GARD:0022524,GARD:0020555,GARD:0009888,Rare neurologic disease +GARD:0007513,GARD:0022531,GARD:0020555,GARD:0003263,Rare genetic disease +GARD:0007513,GARD:0022508,GARD:0020752,GARD:0004620,Rare inborn errors of metabolism +GARD:0007513,GARD:0022508,GARD:0020752,GARD:0016712,Rare inborn errors of metabolism +GARD:0007513,GARD:0022531,GARD:0020752,GARD:0003263,Rare genetic disease +GARD:0007513,GARD:0022531,GARD:0022440,GARD:0017236,Rare genetic disease +GARD:0007513,GARD:0022524,GARD:0022440,GARD:0017237,Rare neurologic disease +GARD:0007513,GARD:0022531,GARD:0020555,GARD:0004620,Rare genetic disease +GARD:0007513,GARD:0022524,GARD:0020556,GARD:0017237,Rare neurologic disease +GARD:0007513,GARD:0022524,GARD:0020555,GARD:0004620,Rare neurologic disease +GARD:0007513,GARD:0022524,GARD:0020556,GARD:0016712,Rare neurologic disease +GARD:0007513,GARD:0022531,GARD:0020752,GARD:0017237,Rare genetic disease +GARD:0007513,GARD:0022524,GARD:0020556,GARD:0009888,Rare neurologic disease +GARD:0007513,GARD:0022508,GARD:0020752,GARD:0017236,Rare inborn errors of metabolism +GARD:0007513,GARD:0022524,GARD:0020555,GARD:0016712,Rare neurologic disease +GARD:0007513,GARD:0022531,GARD:0020556,GARD:0004620,Rare genetic disease +GARD:0007513,GARD:0022531,GARD:0020555,GARD:0016712,Rare genetic disease +GARD:0007513,GARD:0022531,GARD:0022440,GARD:0016712,Rare genetic disease +GARD:0007513,GARD:0022531,GARD:0020752,GARD:0004620,Rare genetic disease +GARD:0007513,GARD:0022531,GARD:0020556,GARD:0017237,Rare genetic disease +GARD:0007513,GARD:0022531,GARD:0022440,GARD:0017237,Rare genetic disease +GARD:0007513,GARD:0022531,GARD:0020555,GARD:0017237,Rare genetic disease +GARD:0007514,GARD:0022522,GARD:0019460,,Rare hematologic disease +GARD:0007514,GARD:0022531,GARD:0019460,,Rare genetic disease +GARD:0007514,GARD:0022531,GARD:0020752,,Rare genetic disease +GARD:0007514,GARD:0022508,GARD:0020752,,Rare inborn errors of metabolism +GARD:0007515,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0007516,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0007516,GARD:0022524,GARD:0019386,,Rare neurologic disease +GARD:0007523,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0007523,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0007523,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0007523,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0007523,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0007523,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0007523,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0007523,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0007523,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0007525,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0007525,GARD:0022524,GARD:0020357,,Rare neurologic disease +GARD:0007548,GARD:0022508,GARD:0018957,,Rare inborn errors of metabolism +GARD:0007548,GARD:0022531,GARD:0018957,,Rare genetic disease +GARD:0007548,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0007548,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0007552,GARD:0022531,GARD:0020306,GARD:0018789,Rare genetic disease +GARD:0007552,GARD:0022531,GARD:0020306,GARD:0016644,Rare genetic disease +GARD:0007552,GARD:0022512,GARD:0019230,GARD:0004154,Rare renal disease +GARD:0007552,GARD:0022512,GARD:0019230,GARD:0016644,Rare renal disease +GARD:0007552,GARD:0022531,GARD:0020306,GARD:0004154,Rare genetic disease +GARD:0007552,GARD:0022512,GARD:0019230,GARD:0004667,Rare renal disease +GARD:0007552,GARD:0022531,GARD:0020306,GARD:0004667,Rare genetic disease +GARD:0007552,GARD:0022512,GARD:0019230,GARD:0018789,Rare renal disease +GARD:0007563,GARD:0022520,GARD:0019795,GARD:0017545,Rare ophthalmic disorder +GARD:0007563,GARD:0022535,GARD:0019795,GARD:0017545,Rare neoplastic disease +GARD:0007563,GARD:0022520,GARD:0019795,GARD:0017544,Rare ophthalmic disorder +GARD:0007563,GARD:0022535,GARD:0019795,GARD:0017544,Rare neoplastic disease +GARD:0007570,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0007572,GARD:0022535,GARD:0004898,GARD:0016926,Rare neoplastic disease +GARD:0007572,GARD:0022535,GARD:0004898,GARD:0017159,Rare neoplastic disease +GARD:0007581,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0007581,GARD:0022531,GARD:0021970,,Rare genetic disease +GARD:0007581,GARD:0022531,GARD:0021878,,Rare genetic disease +GARD:0007581,GARD:0022524,GARD:0012959,,Rare neurologic disease +GARD:0007581,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0007581,GARD:0022524,GARD:0019929,,Rare neurologic disease +GARD:0007581,GARD:0022510,GARD:0019010,,Rare skin disease +GARD:0007581,GARD:0022531,GARD:0019510,,Rare genetic disease +GARD:0007581,GARD:0022531,GARD:0019929,,Rare genetic disease +GARD:0007581,GARD:0022520,GARD:0019510,,Rare ophthalmic disorder +GARD:0007585,GARD:0022509,GARD:0019828,,Rare infectious disease +GARD:0007588,GARD:0022525,GARD:0008231,,Rare systemic or rheumatologic disease +GARD:0007588,GARD:0022510,GARD:0008231,,Rare skin disease +GARD:0007593,GARD:0022521,GARD:0020650,GARD:0017535,Rare endocrine disease +GARD:0007593,GARD:0022531,GARD:0019536,GARD:0017535,Rare genetic disease +GARD:0007593,GARD:0022531,GARD:0020650,GARD:0017534,Rare genetic disease +GARD:0007593,GARD:0022536,GARD:0019218,GARD:0017534,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007593,GARD:0022513,GARD:0019536,GARD:0010754,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022531,GARD:0019524,GARD:0017534,Rare genetic disease +GARD:0007593,GARD:0022536,GARD:0019218,GARD:0010754,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007593,GARD:0022513,GARD:0019902,GARD:0010754,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022511,GARD:0022023,GARD:0017534,Rare bone disease +GARD:0007593,GARD:0022524,GARD:0019832,GARD:0010754,Rare neurologic disease +GARD:0007593,GARD:0022513,GARD:0020650,GARD:0017535,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022531,GARD:0020299,GARD:0017535,Rare genetic disease +GARD:0007593,GARD:0022511,GARD:0022023,GARD:0010754,Rare bone disease +GARD:0007593,GARD:0022531,GARD:0020259,GARD:0017535,Rare genetic disease +GARD:0007593,GARD:0022512,GARD:0019218,GARD:0010754,Rare renal disease +GARD:0007593,GARD:0022513,GARD:0019832,GARD:0017535,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022531,GARD:0019524,GARD:0017535,Rare genetic disease +GARD:0007593,GARD:0022513,GARD:0019902,GARD:0017534,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022513,GARD:0022023,GARD:0010754,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022524,GARD:0019832,GARD:0017535,Rare neurologic disease +GARD:0007593,GARD:0022512,GARD:0019218,GARD:0017535,Rare renal disease +GARD:0007593,GARD:0022521,GARD:0020650,GARD:0010754,Rare endocrine disease +GARD:0007593,GARD:0022513,GARD:0019536,GARD:0017534,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022531,GARD:0019218,GARD:0017534,Rare genetic disease +GARD:0007593,GARD:0022531,GARD:0020299,GARD:0010754,Rare genetic disease +GARD:0007593,GARD:0022531,GARD:0019536,GARD:0010754,Rare genetic disease +GARD:0007593,GARD:0022513,GARD:0020650,GARD:0017534,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022531,GARD:0022023,GARD:0017534,Rare genetic disease +GARD:0007593,GARD:0022520,GARD:0019524,GARD:0017534,Rare ophthalmic disorder +GARD:0007593,GARD:0022511,GARD:0022023,GARD:0017535,Rare bone disease +GARD:0007593,GARD:0022513,GARD:0019218,GARD:0017535,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022531,GARD:0022441,GARD:0017534,Rare genetic disease +GARD:0007593,GARD:0022513,GARD:0019902,GARD:0017535,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022520,GARD:0019536,GARD:0010754,Rare ophthalmic disorder +GARD:0007593,GARD:0022531,GARD:0019524,GARD:0010754,Rare genetic disease +GARD:0007593,GARD:0022531,GARD:0022023,GARD:0017535,Rare genetic disease +GARD:0007593,GARD:0022531,GARD:0022441,GARD:0010754,Rare genetic disease +GARD:0007593,GARD:0022535,GARD:0020259,GARD:0017535,Rare neoplastic disease +GARD:0007593,GARD:0022513,GARD:0019832,GARD:0010754,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022531,GARD:0022441,GARD:0017535,Rare genetic disease +GARD:0007593,GARD:0022524,GARD:0019832,GARD:0017534,Rare neurologic disease +GARD:0007593,GARD:0022536,GARD:0019218,GARD:0017535,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007593,GARD:0022520,GARD:0019536,GARD:0017535,Rare ophthalmic disorder +GARD:0007593,GARD:0022520,GARD:0019524,GARD:0010754,Rare ophthalmic disorder +GARD:0007593,GARD:0022531,GARD:0019536,GARD:0017534,Rare genetic disease +GARD:0007593,GARD:0022513,GARD:0022023,GARD:0017534,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022520,GARD:0019524,GARD:0017535,Rare ophthalmic disorder +GARD:0007593,GARD:0022531,GARD:0020650,GARD:0017535,Rare genetic disease +GARD:0007593,GARD:0022535,GARD:0020259,GARD:0017534,Rare neoplastic disease +GARD:0007593,GARD:0022524,GARD:0020742,GARD:0017534,Rare neurologic disease +GARD:0007593,GARD:0022531,GARD:0020259,GARD:0010754,Rare genetic disease +GARD:0007593,GARD:0022531,GARD:0020259,GARD:0017534,Rare genetic disease +GARD:0007593,GARD:0022521,GARD:0020650,GARD:0017534,Rare endocrine disease +GARD:0007593,GARD:0022513,GARD:0022023,GARD:0017535,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022535,GARD:0020259,GARD:0010754,Rare neoplastic disease +GARD:0007593,GARD:0022524,GARD:0020742,GARD:0010754,Rare neurologic disease +GARD:0007593,GARD:0022513,GARD:0020650,GARD:0010754,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022512,GARD:0019218,GARD:0017534,Rare renal disease +GARD:0007593,GARD:0022531,GARD:0020650,GARD:0010754,Rare genetic disease +GARD:0007593,GARD:0022531,GARD:0022023,GARD:0010754,Rare genetic disease +GARD:0007593,GARD:0022513,GARD:0019536,GARD:0017535,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022531,GARD:0019218,GARD:0017535,Rare genetic disease +GARD:0007593,GARD:0022531,GARD:0020299,GARD:0017534,Rare genetic disease +GARD:0007593,GARD:0022520,GARD:0019536,GARD:0017534,Rare ophthalmic disorder +GARD:0007593,GARD:0022513,GARD:0019832,GARD:0017534,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022513,GARD:0019218,GARD:0010754,Rare developmental defect during embryogenesis +GARD:0007593,GARD:0022524,GARD:0020742,GARD:0017535,Rare neurologic disease +GARD:0007593,GARD:0022531,GARD:0019218,GARD:0010754,Rare genetic disease +GARD:0007593,GARD:0022513,GARD:0019218,GARD:0017534,Rare developmental defect during embryogenesis +GARD:0007598,GARD:0022520,GARD:0019543,GARD:0004730,Rare ophthalmic disorder +GARD:0007598,GARD:0022531,GARD:0020259,GARD:0004730,Rare genetic disease +GARD:0007598,GARD:0022535,GARD:0020259,GARD:0004730,Rare neoplastic disease +GARD:0007598,GARD:0022513,GARD:0019507,GARD:0004730,Rare developmental defect during embryogenesis +GARD:0007598,GARD:0022531,GARD:0019911,GARD:0004730,Rare genetic disease +GARD:0007598,GARD:0022520,GARD:0019507,GARD:0004730,Rare ophthalmic disorder +GARD:0007598,GARD:0022511,GARD:0019911,GARD:0004730,Rare bone disease +GARD:0007598,GARD:0022513,GARD:0019911,GARD:0004730,Rare developmental defect during embryogenesis +GARD:0007598,GARD:0022531,GARD:0019543,GARD:0004730,Rare genetic disease +GARD:0007598,GARD:0022531,GARD:0019507,GARD:0004730,Rare genetic disease +GARD:0007604,GARD:0022524,GARD:0002521,,Rare neurologic disease +GARD:0007604,GARD:0022520,GARD:0002521,,Rare ophthalmic disorder +GARD:0007604,GARD:0022508,GARD:0002521,,Rare inborn errors of metabolism +GARD:0007604,GARD:0022536,GARD:0002521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007604,GARD:0022531,GARD:0002521,,Rare genetic disease +GARD:0007606,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0007606,GARD:0022525,GARD:0021454,,Rare systemic or rheumatologic disease +GARD:0007607,GARD:0021079,GARD:0021082,GARD:0018595,Rare systemic or rheumatological disease of childhood +GARD:0007607,GARD:0022517,GARD:0020933,GARD:0018595,Rare respiratory disease +GARD:0007607,GARD:0022515,GARD:0020535,GARD:0018594,Rare cardiac disease +GARD:0007607,GARD:0022520,GARD:0021101,GARD:0018594,Rare ophthalmic disorder +GARD:0007607,GARD:0022520,GARD:0021102,GARD:0018595,Rare ophthalmic disorder +GARD:0007607,GARD:0022520,GARD:0021103,GARD:0018594,Rare ophthalmic disorder +GARD:0007607,GARD:0022536,GARD:0020933,GARD:0018595,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007607,GARD:0022525,GARD:0020255,GARD:0018596,Rare systemic or rheumatologic disease +GARD:0007607,GARD:0022524,GARD:0020416,GARD:0018595,Rare neurologic disease +GARD:0007607,GARD:0022520,GARD:0021103,GARD:0018596,Rare ophthalmic disorder +GARD:0007607,GARD:0022521,GARD:0019288,GARD:0018594,Rare endocrine disease +GARD:0007607,GARD:0022536,GARD:0020933,GARD:0018594,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007607,GARD:0022520,GARD:0021101,GARD:0018595,Rare ophthalmic disorder +GARD:0007607,GARD:0022524,GARD:0020090,GARD:0018594,Rare neurologic disease +GARD:0007607,GARD:0022524,GARD:0020090,GARD:0018595,Rare neurologic disease +GARD:0007607,GARD:0021079,GARD:0021082,GARD:0018596,Rare systemic or rheumatological disease of childhood +GARD:0007607,GARD:0022520,GARD:0021101,GARD:0018596,Rare ophthalmic disorder +GARD:0007607,GARD:0022536,GARD:0022291,GARD:0018595,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007607,GARD:0022512,GARD:0022291,GARD:0018595,Rare renal disease +GARD:0007607,GARD:0022536,GARD:0022291,GARD:0018596,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007607,GARD:0022525,GARD:0020255,GARD:0018594,Rare systemic or rheumatologic disease +GARD:0007607,GARD:0022521,GARD:0019288,GARD:0018595,Rare endocrine disease +GARD:0007607,GARD:0022524,GARD:0020416,GARD:0018594,Rare neurologic disease +GARD:0007607,GARD:0021079,GARD:0021082,GARD:0018594,Rare systemic or rheumatological disease of childhood +GARD:0007607,GARD:0022525,GARD:0021455,GARD:0018594,Rare systemic or rheumatologic disease +GARD:0007607,GARD:0022517,GARD:0020933,GARD:0018596,Rare respiratory disease +GARD:0007607,GARD:0022520,GARD:0021103,GARD:0018595,Rare ophthalmic disorder +GARD:0007607,GARD:0022517,GARD:0020933,GARD:0018594,Rare respiratory disease +GARD:0007607,GARD:0022515,GARD:0020535,GARD:0018596,Rare cardiac disease +GARD:0007607,GARD:0022525,GARD:0021455,GARD:0018596,Rare systemic or rheumatologic disease +GARD:0007607,GARD:0022524,GARD:0020090,GARD:0018596,Rare neurologic disease +GARD:0007607,GARD:0022521,GARD:0019288,GARD:0018596,Rare endocrine disease +GARD:0007607,GARD:0022512,GARD:0022291,GARD:0018594,Rare renal disease +GARD:0007607,GARD:0022512,GARD:0022291,GARD:0018596,Rare renal disease +GARD:0007607,GARD:0022536,GARD:0022291,GARD:0018594,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007607,GARD:0022520,GARD:0021102,GARD:0018596,Rare ophthalmic disorder +GARD:0007607,GARD:0022536,GARD:0020933,GARD:0018596,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007607,GARD:0022520,GARD:0021102,GARD:0018594,Rare ophthalmic disorder +GARD:0007607,GARD:0022525,GARD:0021455,GARD:0018595,Rare systemic or rheumatologic disease +GARD:0007607,GARD:0022525,GARD:0020255,GARD:0018595,Rare systemic or rheumatologic disease +GARD:0007607,GARD:0022515,GARD:0020535,GARD:0018595,Rare cardiac disease +GARD:0007607,GARD:0022524,GARD:0020416,GARD:0018596,Rare neurologic disease +GARD:0007608,GARD:0022531,GARD:0021796,,Rare genetic disease +GARD:0007608,GARD:0022524,GARD:0021796,,Rare neurologic disease +GARD:0007610,GARD:0022531,GARD:0021669,,Rare genetic disease +GARD:0007610,GARD:0022511,GARD:0012704,,Rare bone disease +GARD:0007610,GARD:0022525,GARD:0012704,,Rare systemic or rheumatologic disease +GARD:0007611,GARD:0022521,GARD:0019805,,Rare endocrine disease +GARD:0007611,GARD:0022521,GARD:0019293,,Rare endocrine disease +GARD:0007611,GARD:0022531,GARD:0019293,,Rare genetic disease +GARD:0007611,GARD:0022514,GARD:0019293,,Rare gynecologic or obstetric disease +GARD:0007611,GARD:0022521,GARD:0021116,,Rare endocrine disease +GARD:0007611,GARD:0022529,GARD:0021682,,Rare infertility +GARD:0007615,GARD:0022510,GARD:0021709,,Rare skin disease +GARD:0007617,GARD:0022524,GARD:0021267,GARD:0015191,Rare neurologic disease +GARD:0007617,GARD:0022524,GARD:0022328,GARD:0015191,Rare neurologic disease +GARD:0007627,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0007627,GARD:0022513,GARD:0019888,,Rare developmental defect during embryogenesis +GARD:0007627,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0007627,GARD:0022521,GARD:0019274,,Rare endocrine disease +GARD:0007627,GARD:0022520,GARD:0019888,,Rare ophthalmic disorder +GARD:0007627,GARD:0022531,GARD:0019888,,Rare genetic disease +GARD:0007627,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0007627,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0007627,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0007627,GARD:0022531,GARD:0019274,,Rare genetic disease +GARD:0007628,GARD:0022523,GARD:0019806,GARD:0021406,Rare immune disease +GARD:0007628,GARD:0022536,GARD:0022063,GARD:0021406,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007628,GARD:0022531,GARD:0019806,GARD:0021405,Rare genetic disease +GARD:0007628,GARD:0022531,GARD:0019806,GARD:0021406,Rare genetic disease +GARD:0007628,GARD:0022523,GARD:0019806,GARD:0021636,Rare immune disease +GARD:0007628,GARD:0022536,GARD:0022063,GARD:0021636,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007628,GARD:0022536,GARD:0022063,GARD:0021405,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007628,GARD:0022531,GARD:0019806,GARD:0021636,Rare genetic disease +GARD:0007628,GARD:0022523,GARD:0019806,GARD:0021405,Rare immune disease +GARD:0007629,GARD:0022535,GARD:0020162,,Rare neoplastic disease +GARD:0007629,GARD:0022536,GARD:0020162,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007629,GARD:0022522,GARD:0020162,,Rare hematologic disease +GARD:0007629,GARD:0022510,GARD:0020162,,Rare skin disease +GARD:0007630,GARD:0022521,GARD:0019286,,Rare endocrine disease +GARD:0007633,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0007633,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0007633,GARD:0022531,GARD:0022084,,Rare genetic disease +GARD:0007633,GARD:0022521,GARD:0020214,,Rare endocrine disease +GARD:0007633,GARD:0022513,GARD:0022084,,Rare developmental defect during embryogenesis +GARD:0007633,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0007633,GARD:0022531,GARD:0012597,,Rare genetic disease +GARD:0007633,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0007633,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0007633,GARD:0022531,GARD:0019516,,Rare genetic disease +GARD:0007633,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0007633,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0007633,GARD:0022510,GARD:0012597,,Rare skin disease +GARD:0007633,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0007633,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0007633,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0007633,GARD:0022521,GARD:0012597,,Rare endocrine disease +GARD:0007633,GARD:0022520,GARD:0019516,,Rare ophthalmic disorder +GARD:0007633,GARD:0022520,GARD:0022084,,Rare ophthalmic disorder +GARD:0007633,GARD:0022531,GARD:0020214,,Rare genetic disease +GARD:0007633,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0007639,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0007639,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0007639,GARD:0022508,GARD:0021331,,Rare inborn errors of metabolism +GARD:0007639,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0007639,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0007639,GARD:0022520,GARD:0021331,,Rare ophthalmic disorder +GARD:0007639,GARD:0022531,GARD:0021331,,Rare genetic disease +GARD:0007649,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0007649,GARD:0022518,GARD:0020212,,Rare surgical thoracic disease +GARD:0007649,GARD:0022513,GARD:0003342,,Rare developmental defect during embryogenesis +GARD:0007649,GARD:0022531,GARD:0003342,,Rare genetic disease +GARD:0007649,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0007649,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0007649,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0007649,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0007649,GARD:0022507,GARD:0003342,,Rare maxillo-facial surgical disease +GARD:0007649,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0007649,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0007649,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0007649,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0007649,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0007649,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0007649,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0007649,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0007649,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0007649,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007649,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0007649,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0007652,GARD:0022513,GARD:0021862,,Rare developmental defect during embryogenesis +GARD:0007652,GARD:0022531,GARD:0021862,,Rare genetic disease +GARD:0007652,GARD:0022536,GARD:0021862,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007652,GARD:0022534,GARD:0021862,,Rare abdominal surgical disease +GARD:0007652,GARD:0022532,GARD:0021862,,Rare urogenital disease +GARD:0007653,GARD:0022531,GARD:0020232,GARD:0016372,Rare genetic disease +GARD:0007653,GARD:0022508,GARD:0020232,GARD:0016372,Rare inborn errors of metabolism +GARD:0007653,GARD:0022521,GARD:0020232,GARD:0016372,Rare endocrine disease +GARD:0007654,GARD:0022531,GARD:0021112,,Rare genetic disease +GARD:0007654,GARD:0022510,GARD:0021112,,Rare skin disease +GARD:0007654,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0007654,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0007654,GARD:0022508,GARD:0021517,,Rare inborn errors of metabolism +GARD:0007654,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0007654,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0007654,GARD:0022531,GARD:0021517,,Rare genetic disease +GARD:0007654,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0007654,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0007664,GARD:0022527,GARD:0022014,,Rare circulatory system disease +GARD:0007664,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0007664,GARD:0022531,GARD:0020628,,Rare genetic disease +GARD:0007664,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0007664,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0007672,GARD:0022531,GARD:0018884,GARD:0008233,Rare genetic disease +GARD:0007672,GARD:0022536,GARD:0022063,GARD:0012510,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007672,GARD:0022508,GARD:0018884,GARD:0012510,Rare inborn errors of metabolism +GARD:0007672,GARD:0022508,GARD:0018884,GARD:0005061,Rare inborn errors of metabolism +GARD:0007672,GARD:0022536,GARD:0022063,GARD:0022457,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007672,GARD:0022508,GARD:0018884,GARD:0022457,Rare inborn errors of metabolism +GARD:0007672,GARD:0022508,GARD:0018884,GARD:0006844,Rare inborn errors of metabolism +GARD:0007672,GARD:0022536,GARD:0022063,GARD:0006844,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007672,GARD:0022536,GARD:0022063,GARD:0005061,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007672,GARD:0022531,GARD:0018884,GARD:0021525,Rare genetic disease +GARD:0007672,GARD:0022531,GARD:0018884,GARD:0006400,Rare genetic disease +GARD:0007672,GARD:0022536,GARD:0022063,GARD:0006400,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007672,GARD:0022508,GARD:0018884,GARD:0021525,Rare inborn errors of metabolism +GARD:0007672,GARD:0022531,GARD:0018884,GARD:0012510,Rare genetic disease +GARD:0007672,GARD:0022531,GARD:0018884,GARD:0012505,Rare genetic disease +GARD:0007672,GARD:0022531,GARD:0018884,GARD:0003230,Rare genetic disease +GARD:0007672,GARD:0022508,GARD:0018884,GARD:0012511,Rare inborn errors of metabolism +GARD:0007672,GARD:0022508,GARD:0018884,GARD:0006400,Rare inborn errors of metabolism +GARD:0007672,GARD:0022508,GARD:0018884,GARD:0012505,Rare inborn errors of metabolism +GARD:0007672,GARD:0022536,GARD:0022063,GARD:0008233,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007672,GARD:0022531,GARD:0018884,GARD:0022457,Rare genetic disease +GARD:0007672,GARD:0022536,GARD:0022063,GARD:0006426,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007672,GARD:0022536,GARD:0022063,GARD:0012511,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007672,GARD:0022536,GARD:0022063,GARD:0012505,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007672,GARD:0022536,GARD:0022063,GARD:0003230,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007672,GARD:0022531,GARD:0018884,GARD:0006844,Rare genetic disease +GARD:0007672,GARD:0022531,GARD:0018884,GARD:0006426,Rare genetic disease +GARD:0007672,GARD:0022531,GARD:0018884,GARD:0005061,Rare genetic disease +GARD:0007672,GARD:0022508,GARD:0018884,GARD:0006426,Rare inborn errors of metabolism +GARD:0007672,GARD:0022531,GARD:0018884,GARD:0012511,Rare genetic disease +GARD:0007672,GARD:0022508,GARD:0018884,GARD:0003230,Rare inborn errors of metabolism +GARD:0007672,GARD:0022508,GARD:0018884,GARD:0008233,Rare inborn errors of metabolism +GARD:0007672,GARD:0022536,GARD:0022063,GARD:0021525,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007673,GARD:0022524,GARD:0017268,GARD:0020951,Rare neurologic disease +GARD:0007673,GARD:0022531,GARD:0017268,GARD:0020951,Rare genetic disease +GARD:0007673,GARD:0022513,GARD:0017268,GARD:0020951,Rare developmental defect during embryogenesis +GARD:0007673,GARD:0022513,GARD:0017268,GARD:0020958,Rare developmental defect during embryogenesis +GARD:0007673,GARD:0022524,GARD:0017268,GARD:0020958,Rare neurologic disease +GARD:0007673,GARD:0022531,GARD:0017268,GARD:0020958,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0000994,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0010629,Rare genetic disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0021750,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0002026,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0000960,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0017154,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0004987,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0004994,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0016996,Rare genetic disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0004982,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0009810,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0009163,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0004980,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0004979,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0005021,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0004984,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0016814,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0010624,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0016813,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0004709,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0010513,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0010616,Rare genetic disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0004709,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0004984,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0010741,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0006841,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0004891,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0009184,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0016814,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0000134,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0017812,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0010782,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0004130,Rare genetic disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0016819,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0009866,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0010220,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0021586,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0001418,Rare genetic disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0017913,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0018025,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0010782,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0017913,Rare genetic disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0003571,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0010611,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0010620,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0016995,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0010057,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0003571,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0006984,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0004970,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0010101,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0006295,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0017030,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0016996,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0004982,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0005589,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0006984,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0017030,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0010618,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0016819,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0016995,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0004980,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0017815,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0017808,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0009184,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0017808,Rare genetic disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0009657,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0004891,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0021750,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0010741,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0009657,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0010629,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0016812,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0000250,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0000960,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0010616,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0010611,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0021750,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0010057,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0010513,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0001418,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0001418,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0002026,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0016813,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0004891,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0017812,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0004970,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0016994,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0012610,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0018025,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0010624,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0012610,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0010220,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0009866,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0017815,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0016819,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0006984,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0010618,Rare genetic disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0010620,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0005589,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0016814,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0016993,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0021586,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0004987,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0009810,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0009810,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0010620,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0006841,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0002026,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0004994,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0005021,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0000994,Rare genetic disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0016996,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0010618,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0000134,Rare genetic disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0010782,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0009184,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0010513,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0010220,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0003571,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0004984,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0000960,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0017154,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0016813,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0010624,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0004709,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0004982,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0009163,Rare genetic disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0016993,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0016993,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0016995,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0004130,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0005021,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0021586,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0004979,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0010101,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0010101,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0009866,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0010057,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0017154,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0004994,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0012610,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0004980,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0006295,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0006295,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0004979,Rare genetic disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0010616,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0006841,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0009657,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0010629,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0017030,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0018025,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0017815,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0000250,Rare bone disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0004970,Rare genetic disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0016994,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0000250,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0010741,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0016994,Rare genetic disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0016812,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0017727,Rare genetic disease +GARD:0007687,GARD:0022531,GARD:0021567,GARD:0017812,Rare genetic disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0010611,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0017727,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0017727,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0016812,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0004987,Rare bone disease +GARD:0007687,GARD:0022511,GARD:0021567,GARD:0017913,Rare bone disease +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0000134,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0005589,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0004130,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0000994,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0009163,Rare developmental defect during embryogenesis +GARD:0007687,GARD:0022513,GARD:0021567,GARD:0017808,Rare developmental defect during embryogenesis +GARD:0007690,GARD:0022531,GARD:0021085,,Rare genetic disease +GARD:0007690,GARD:0022524,GARD:0021085,,Rare neurologic disease +GARD:0007692,GARD:0022509,GARD:0020047,,Rare infectious disease +GARD:0007693,GARD:0022517,GARD:0020248,,Rare respiratory disease +GARD:0007695,GARD:0022531,GARD:0020557,,Rare genetic disease +GARD:0007695,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0007695,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0007695,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0007695,GARD:0022508,GARD:0018955,,Rare inborn errors of metabolism +GARD:0007695,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0007695,GARD:0022524,GARD:0020557,,Rare neurologic disease +GARD:0007695,GARD:0022531,GARD:0018955,,Rare genetic disease +GARD:0007700,GARD:0022510,GARD:0007743,,Rare skin disease +GARD:0007706,GARD:0022531,GARD:0020084,,Rare genetic disease +GARD:0007706,GARD:0022531,GARD:0021914,,Rare genetic disease +GARD:0007706,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0007706,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0007706,GARD:0022524,GARD:0020084,,Rare neurologic disease +GARD:0007706,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0007706,GARD:0022524,GARD:0019819,,Rare neurologic disease +GARD:0007706,GARD:0022513,GARD:0021914,,Rare developmental defect during embryogenesis +GARD:0007706,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0007706,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0007706,GARD:0022524,GARD:0020091,,Rare neurologic disease +GARD:0007706,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0007706,GARD:0022531,GARD:0020091,,Rare genetic disease +GARD:0007706,GARD:0022527,GARD:0021914,,Rare circulatory system disease +GARD:0007706,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0007706,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0007706,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0007706,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0007706,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0007706,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0007708,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0007708,GARD:0022524,GARD:0019434,,Rare neurologic disease +GARD:0007710,GARD:0022531,GARD:0021313,,Rare genetic disease +GARD:0007710,GARD:0022508,GARD:0021313,,Rare inborn errors of metabolism +GARD:0007710,GARD:0022516,GARD:0019844,,Rare gastroenterologic disease +GARD:0007710,GARD:0022531,GARD:0019844,,Rare genetic disease +GARD:0007712,GARD:0022534,GARD:0022534,,Rare abdominal surgical disease +GARD:0007712,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0007713,GARD:0022531,GARD:0022184,,Rare genetic disease +GARD:0007713,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0007713,GARD:0022520,GARD:0022104,,Rare ophthalmic disorder +GARD:0007713,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0007713,GARD:0022527,GARD:0022014,,Rare circulatory system disease +GARD:0007716,GARD:0022524,GARD:0021272,,Rare neurologic disease +GARD:0007721,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0007725,GARD:0022524,GARD:0019815,GARD:0019692,Rare neurologic disease +GARD:0007725,GARD:0022524,GARD:0019815,GARD:0019691,Rare neurologic disease +GARD:0007730,GARD:0022536,GARD:0022292,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007730,GARD:0022512,GARD:0022292,,Rare renal disease +GARD:0007730,GARD:0021079,GARD:0021081,,Rare systemic or rheumatological disease of childhood +GARD:0007730,GARD:0022527,GARD:0019981,,Rare circulatory system disease +GARD:0007730,GARD:0022525,GARD:0019981,,Rare systemic or rheumatologic disease +GARD:0007731,GARD:0022521,GARD:0018801,,Rare endocrine disease +GARD:0007731,GARD:0022531,GARD:0020383,,Rare genetic disease +GARD:0007731,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0007731,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0007731,GARD:0022508,GARD:0018801,,Rare inborn errors of metabolism +GARD:0007731,GARD:0022531,GARD:0018801,,Rare genetic disease +GARD:0007731,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0007731,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0007731,GARD:0022524,GARD:0020383,,Rare neurologic disease +GARD:0007737,GARD:0022531,GARD:0020382,GARD:0021325,Rare genetic disease +GARD:0007737,GARD:0022531,GARD:0021323,GARD:0021325,Rare genetic disease +GARD:0007737,GARD:0022524,GARD:0020382,GARD:0021325,Rare neurologic disease +GARD:0007737,GARD:0022531,GARD:0019491,GARD:0021325,Rare genetic disease +GARD:0007737,GARD:0022531,GARD:0021323,GARD:0021327,Rare genetic disease +GARD:0007737,GARD:0022531,GARD:0020382,GARD:0021327,Rare genetic disease +GARD:0007737,GARD:0022531,GARD:0022108,GARD:0021325,Rare genetic disease +GARD:0007737,GARD:0022524,GARD:0019491,GARD:0021327,Rare neurologic disease +GARD:0007737,GARD:0022524,GARD:0020382,GARD:0021327,Rare neurologic disease +GARD:0007737,GARD:0022508,GARD:0021323,GARD:0021327,Rare inborn errors of metabolism +GARD:0007737,GARD:0022524,GARD:0021323,GARD:0021325,Rare neurologic disease +GARD:0007737,GARD:0022524,GARD:0020382,GARD:0021326,Rare neurologic disease +GARD:0007737,GARD:0022524,GARD:0021323,GARD:0021326,Rare neurologic disease +GARD:0007737,GARD:0022524,GARD:0019491,GARD:0021326,Rare neurologic disease +GARD:0007737,GARD:0022508,GARD:0021323,GARD:0021326,Rare inborn errors of metabolism +GARD:0007737,GARD:0022531,GARD:0019491,GARD:0021326,Rare genetic disease +GARD:0007737,GARD:0022531,GARD:0020382,GARD:0021326,Rare genetic disease +GARD:0007737,GARD:0022520,GARD:0022108,GARD:0021327,Rare ophthalmic disorder +GARD:0007737,GARD:0022531,GARD:0021323,GARD:0021326,Rare genetic disease +GARD:0007737,GARD:0022536,GARD:0021323,GARD:0021326,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007737,GARD:0022531,GARD:0019491,GARD:0021327,Rare genetic disease +GARD:0007737,GARD:0022524,GARD:0021323,GARD:0021324,Rare neurologic disease +GARD:0007737,GARD:0022508,GARD:0021323,GARD:0021325,Rare inborn errors of metabolism +GARD:0007737,GARD:0022536,GARD:0021323,GARD:0021324,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007737,GARD:0022531,GARD:0019491,GARD:0021324,Rare genetic disease +GARD:0007737,GARD:0022520,GARD:0022108,GARD:0021326,Rare ophthalmic disorder +GARD:0007737,GARD:0022531,GARD:0022108,GARD:0021324,Rare genetic disease +GARD:0007737,GARD:0022531,GARD:0022108,GARD:0021326,Rare genetic disease +GARD:0007737,GARD:0022524,GARD:0019491,GARD:0021325,Rare neurologic disease +GARD:0007737,GARD:0022531,GARD:0020382,GARD:0021324,Rare genetic disease +GARD:0007737,GARD:0022536,GARD:0021323,GARD:0021327,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007737,GARD:0022524,GARD:0020382,GARD:0021324,Rare neurologic disease +GARD:0007737,GARD:0022531,GARD:0021323,GARD:0021324,Rare genetic disease +GARD:0007737,GARD:0022520,GARD:0022108,GARD:0021324,Rare ophthalmic disorder +GARD:0007737,GARD:0022508,GARD:0021323,GARD:0021324,Rare inborn errors of metabolism +GARD:0007737,GARD:0022524,GARD:0021323,GARD:0021327,Rare neurologic disease +GARD:0007737,GARD:0022531,GARD:0022108,GARD:0021327,Rare genetic disease +GARD:0007737,GARD:0022536,GARD:0021323,GARD:0021325,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007737,GARD:0022524,GARD:0019491,GARD:0021324,Rare neurologic disease +GARD:0007737,GARD:0022520,GARD:0022108,GARD:0021325,Rare ophthalmic disorder +GARD:0007743,GARD:0022510,GARD:0021171,GARD:0018696,Rare skin disease +GARD:0007743,GARD:0022510,GARD:0021171,GARD:0007700,Rare skin disease +GARD:0007743,GARD:0022510,GARD:0021171,GARD:0022066,Rare skin disease +GARD:0007751,GARD:0022524,GARD:0021348,GARD:0002844,Rare neurologic disease +GARD:0007751,GARD:0022531,GARD:0021348,GARD:0004319,Rare genetic disease +GARD:0007751,GARD:0022508,GARD:0021348,GARD:0002844,Rare inborn errors of metabolism +GARD:0007751,GARD:0022531,GARD:0021348,GARD:0002843,Rare genetic disease +GARD:0007751,GARD:0022531,GARD:0021348,GARD:0005682,Rare genetic disease +GARD:0007751,GARD:0022508,GARD:0021348,GARD:0004319,Rare inborn errors of metabolism +GARD:0007751,GARD:0022508,GARD:0021348,GARD:0005682,Rare inborn errors of metabolism +GARD:0007751,GARD:0022524,GARD:0021348,GARD:0004319,Rare neurologic disease +GARD:0007751,GARD:0022531,GARD:0021348,GARD:0002844,Rare genetic disease +GARD:0007751,GARD:0022508,GARD:0021348,GARD:0002843,Rare inborn errors of metabolism +GARD:0007751,GARD:0022524,GARD:0021348,GARD:0005682,Rare neurologic disease +GARD:0007751,GARD:0022524,GARD:0021348,GARD:0002843,Rare neurologic disease +GARD:0007754,GARD:0022521,GARD:0019294,,Rare endocrine disease +GARD:0007754,GARD:0022514,GARD:0019294,,Rare gynecologic or obstetric disease +GARD:0007754,GARD:0022513,GARD:0020910,,Rare developmental defect during embryogenesis +GARD:0007754,GARD:0022531,GARD:0021693,,Rare genetic disease +GARD:0007754,GARD:0022529,GARD:0021682,,Rare infertility +GARD:0007754,GARD:0022531,GARD:0020910,,Rare genetic disease +GARD:0007754,GARD:0022531,GARD:0021992,,Rare genetic disease +GARD:0007759,GARD:0022518,GARD:0022518,GARD:0021535,Rare surgical thoracic disease +GARD:0007759,GARD:0022518,GARD:0022518,GARD:0019749,Rare surgical thoracic disease +GARD:0007759,GARD:0022518,GARD:0022518,GARD:0021536,Rare surgical thoracic disease +GARD:0007772,GARD:0022510,GARD:0019005,,Rare skin disease +GARD:0007772,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0007772,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0007772,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0007772,GARD:0022531,GARD:0020271,,Rare genetic disease +GARD:0007777,GARD:0022531,GARD:0022152,,Rare genetic disease +GARD:0007777,GARD:0022520,GARD:0022119,,Rare ophthalmic disorder +GARD:0007784,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0007784,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0007784,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0007784,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007784,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0007784,GARD:0022511,GARD:0019994,,Rare bone disease +GARD:0007784,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0007784,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0007784,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0007784,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007784,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0007784,GARD:0022507,GARD:0019994,,Rare maxillo-facial surgical disease +GARD:0007784,GARD:0022513,GARD:0019994,,Rare developmental defect during embryogenesis +GARD:0007784,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0007784,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0007784,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0007784,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0007784,GARD:0022528,GARD:0019994,,Rare otorhinolaryngologic disease +GARD:0007784,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0007784,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0007784,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0007784,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0007784,GARD:0022531,GARD:0019994,,Rare genetic disease +GARD:0007784,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0007784,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0007784,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0007793,GARD:0022522,GARD:0019465,,Rare hematologic disease +GARD:0007793,GARD:0022536,GARD:0019465,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007795,GARD:0022519,GARD:0019551,GARD:0001544,Rare surgical cardiac disease +GARD:0007795,GARD:0022513,GARD:0019551,GARD:0005476,Rare developmental defect during embryogenesis +GARD:0007795,GARD:0022519,GARD:0019551,GARD:0005476,Rare surgical cardiac disease +GARD:0007795,GARD:0022513,GARD:0019551,GARD:0001544,Rare developmental defect during embryogenesis +GARD:0007799,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0007799,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0007799,GARD:0022510,GARD:0018998,,Rare skin disease +GARD:0007799,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0007799,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0007799,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0007799,GARD:0022531,GARD:0018998,,Rare genetic disease +GARD:0007799,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0007799,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0007799,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0007799,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0007800,GARD:0022513,GARD:0015017,,Rare developmental defect during embryogenesis +GARD:0007800,GARD:0022531,GARD:0015017,,Rare genetic disease +GARD:0007800,GARD:0022511,GARD:0015017,,Rare bone disease +GARD:0007800,GARD:0022510,GARD:0015017,,Rare skin disease +GARD:0007801,GARD:0022531,GARD:0020828,,Rare genetic disease +GARD:0007801,GARD:0022513,GARD:0021451,,Rare developmental defect during embryogenesis +GARD:0007801,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0007801,GARD:0022510,GARD:0021451,,Rare skin disease +GARD:0007801,GARD:0022531,GARD:0021451,,Rare genetic disease +GARD:0007801,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0007801,GARD:0022511,GARD:0021451,,Rare bone disease +GARD:0007801,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0007801,GARD:0022513,GARD:0020828,,Rare developmental defect during embryogenesis +GARD:0007802,GARD:0022511,GARD:0015017,,Rare bone disease +GARD:0007802,GARD:0022513,GARD:0015017,,Rare developmental defect during embryogenesis +GARD:0007802,GARD:0022510,GARD:0015017,,Rare skin disease +GARD:0007802,GARD:0022531,GARD:0015017,,Rare genetic disease +GARD:0007805,GARD:0022524,GARD:0020542,,Rare neurologic disease +GARD:0007826,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0007827,GARD:0022529,GARD:0021677,GARD:0002456,Rare infertility +GARD:0007827,GARD:0022517,GARD:0019793,GARD:0002456,Rare respiratory disease +GARD:0007827,GARD:0022509,GARD:0020044,GARD:0002456,Rare infectious disease +GARD:0007827,GARD:0022521,GARD:0019288,GARD:0002456,Rare endocrine disease +GARD:0007828,GARD:0022524,GARD:0019386,,Rare neurologic disease +GARD:0007828,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0007830,GARD:0022527,GARD:0022298,GARD:0015640,Rare circulatory system disease +GARD:0007830,GARD:0022531,GARD:0019431,GARD:0015640,Rare genetic disease +GARD:0007830,GARD:0022524,GARD:0020742,GARD:0015640,Rare neurologic disease +GARD:0007830,GARD:0022510,GARD:0019009,GARD:0015121,Rare skin disease +GARD:0007830,GARD:0022510,GARD:0019014,GARD:0015121,Rare skin disease +GARD:0007830,GARD:0022512,GARD:0019228,GARD:0015640,Rare renal disease +GARD:0007830,GARD:0022535,GARD:0020259,GARD:0015121,Rare neoplastic disease +GARD:0007830,GARD:0022513,GARD:0022298,GARD:0015640,Rare developmental defect during embryogenesis +GARD:0007830,GARD:0022524,GARD:0022440,GARD:0015121,Rare neurologic disease +GARD:0007830,GARD:0022535,GARD:0019014,GARD:0015121,Rare neoplastic disease +GARD:0007830,GARD:0022512,GARD:0021420,GARD:0015640,Rare renal disease +GARD:0007830,GARD:0022531,GARD:0022298,GARD:0015640,Rare genetic disease +GARD:0007830,GARD:0022513,GARD:0019431,GARD:0015640,Rare developmental defect during embryogenesis +GARD:0007830,GARD:0022531,GARD:0020259,GARD:0015640,Rare genetic disease +GARD:0007830,GARD:0022531,GARD:0019986,GARD:0015640,Rare genetic disease +GARD:0007830,GARD:0022531,GARD:0020084,GARD:0015640,Rare genetic disease +GARD:0007830,GARD:0022531,GARD:0022440,GARD:0015121,Rare genetic disease +GARD:0007830,GARD:0022531,GARD:0019431,GARD:0015121,Rare genetic disease +GARD:0007830,GARD:0022536,GARD:0022061,GARD:0015640,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007830,GARD:0022535,GARD:0021420,GARD:0015121,Rare neoplastic disease +GARD:0007830,GARD:0022527,GARD:0022298,GARD:0015121,Rare circulatory system disease +GARD:0007830,GARD:0022531,GARD:0019228,GARD:0015121,Rare genetic disease +GARD:0007830,GARD:0022535,GARD:0021420,GARD:0015640,Rare neoplastic disease +GARD:0007830,GARD:0022524,GARD:0022440,GARD:0015640,Rare neurologic disease +GARD:0007830,GARD:0022510,GARD:0022298,GARD:0015121,Rare skin disease +GARD:0007830,GARD:0022535,GARD:0019014,GARD:0015640,Rare neoplastic disease +GARD:0007830,GARD:0022531,GARD:0010248,GARD:0015121,Rare genetic disease +GARD:0007830,GARD:0022512,GARD:0019228,GARD:0015121,Rare renal disease +GARD:0007830,GARD:0022536,GARD:0022061,GARD:0015121,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007830,GARD:0022513,GARD:0019431,GARD:0015121,Rare developmental defect during embryogenesis +GARD:0007830,GARD:0022531,GARD:0022298,GARD:0015121,Rare genetic disease +GARD:0007830,GARD:0022531,GARD:0022440,GARD:0015640,Rare genetic disease +GARD:0007830,GARD:0022510,GARD:0022298,GARD:0015640,Rare skin disease +GARD:0007830,GARD:0022531,GARD:0020084,GARD:0015121,Rare genetic disease +GARD:0007830,GARD:0022531,GARD:0020274,GARD:0015121,Rare genetic disease +GARD:0007830,GARD:0022513,GARD:0022298,GARD:0015121,Rare developmental defect during embryogenesis +GARD:0007830,GARD:0022535,GARD:0020259,GARD:0015640,Rare neoplastic disease +GARD:0007830,GARD:0022510,GARD:0019009,GARD:0015640,Rare skin disease +GARD:0007830,GARD:0022524,GARD:0010248,GARD:0015640,Rare neurologic disease +GARD:0007830,GARD:0022531,GARD:0020259,GARD:0015121,Rare genetic disease +GARD:0007830,GARD:0022531,GARD:0010248,GARD:0015640,Rare genetic disease +GARD:0007830,GARD:0022524,GARD:0010248,GARD:0015121,Rare neurologic disease +GARD:0007830,GARD:0022524,GARD:0020742,GARD:0015121,Rare neurologic disease +GARD:0007830,GARD:0022531,GARD:0021420,GARD:0015121,Rare genetic disease +GARD:0007830,GARD:0022531,GARD:0019228,GARD:0015640,Rare genetic disease +GARD:0007830,GARD:0022531,GARD:0019986,GARD:0015121,Rare genetic disease +GARD:0007830,GARD:0022510,GARD:0019014,GARD:0015640,Rare skin disease +GARD:0007830,GARD:0022531,GARD:0021420,GARD:0015640,Rare genetic disease +GARD:0007830,GARD:0022524,GARD:0020084,GARD:0015640,Rare neurologic disease +GARD:0007830,GARD:0022531,GARD:0020276,GARD:0015121,Rare genetic disease +GARD:0007830,GARD:0022524,GARD:0020084,GARD:0015121,Rare neurologic disease +GARD:0007830,GARD:0022512,GARD:0021420,GARD:0015121,Rare renal disease +GARD:0007830,GARD:0022531,GARD:0020274,GARD:0015640,Rare genetic disease +GARD:0007830,GARD:0022531,GARD:0020276,GARD:0015640,Rare genetic disease +GARD:0007831,GARD:0022524,GARD:0021965,GARD:0019677,Rare neurologic disease +GARD:0007831,GARD:0022536,GARD:0019218,GARD:0019681,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007831,GARD:0022531,GARD:0019504,GARD:0019677,Rare genetic disease +GARD:0007831,GARD:0022531,GARD:0021683,GARD:0019681,Rare genetic disease +GARD:0007831,GARD:0022513,GARD:0019218,GARD:0019677,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022520,GARD:0019528,GARD:0019677,Rare ophthalmic disorder +GARD:0007831,GARD:0022531,GARD:0019528,GARD:0019677,Rare genetic disease +GARD:0007831,GARD:0022510,GARD:0022298,GARD:0019677,Rare skin disease +GARD:0007831,GARD:0022531,GARD:0021683,GARD:0019676,Rare genetic disease +GARD:0007831,GARD:0022513,GARD:0022298,GARD:0019677,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022531,GARD:0021965,GARD:0019677,Rare genetic disease +GARD:0007831,GARD:0022521,GARD:0019294,GARD:0019676,Rare endocrine disease +GARD:0007831,GARD:0022531,GARD:0019504,GARD:0019681,Rare genetic disease +GARD:0007831,GARD:0022531,GARD:0022298,GARD:0019677,Rare genetic disease +GARD:0007831,GARD:0022532,GARD:0020064,GARD:0019677,Rare urogenital disease +GARD:0007831,GARD:0022520,GARD:0019504,GARD:0019676,Rare ophthalmic disorder +GARD:0007831,GARD:0022531,GARD:0020064,GARD:0019681,Rare genetic disease +GARD:0007831,GARD:0022513,GARD:0019504,GARD:0019681,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022513,GARD:0020908,GARD:0019681,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022531,GARD:0021683,GARD:0019677,Rare genetic disease +GARD:0007831,GARD:0022531,GARD:0021992,GARD:0019681,Rare genetic disease +GARD:0007831,GARD:0022512,GARD:0019218,GARD:0019676,Rare renal disease +GARD:0007831,GARD:0022536,GARD:0019218,GARD:0019676,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007831,GARD:0022521,GARD:0021476,GARD:0019681,Rare endocrine disease +GARD:0007831,GARD:0022529,GARD:0021683,GARD:0019676,Rare infertility +GARD:0007831,GARD:0022531,GARD:0021992,GARD:0019677,Rare genetic disease +GARD:0007831,GARD:0022514,GARD:0021479,GARD:0019681,Rare gynecologic or obstetric disease +GARD:0007831,GARD:0022531,GARD:0021476,GARD:0019681,Rare genetic disease +GARD:0007831,GARD:0022531,GARD:0022298,GARD:0019681,Rare genetic disease +GARD:0007831,GARD:0022513,GARD:0020064,GARD:0019677,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022520,GARD:0019504,GARD:0019677,Rare ophthalmic disorder +GARD:0007831,GARD:0022514,GARD:0019294,GARD:0019676,Rare gynecologic or obstetric disease +GARD:0007831,GARD:0022513,GARD:0020064,GARD:0019681,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022527,GARD:0022298,GARD:0019677,Rare circulatory system disease +GARD:0007831,GARD:0022513,GARD:0019218,GARD:0019676,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022514,GARD:0019294,GARD:0019677,Rare gynecologic or obstetric disease +GARD:0007831,GARD:0022531,GARD:0021479,GARD:0019676,Rare genetic disease +GARD:0007831,GARD:0022513,GARD:0022298,GARD:0019681,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022521,GARD:0021476,GARD:0019677,Rare endocrine disease +GARD:0007831,GARD:0022532,GARD:0020064,GARD:0019676,Rare urogenital disease +GARD:0007831,GARD:0022531,GARD:0019528,GARD:0019681,Rare genetic disease +GARD:0007831,GARD:0022531,GARD:0021479,GARD:0019681,Rare genetic disease +GARD:0007831,GARD:0022531,GARD:0020908,GARD:0019676,Rare genetic disease +GARD:0007831,GARD:0022531,GARD:0019218,GARD:0019676,Rare genetic disease +GARD:0007831,GARD:0022513,GARD:0020908,GARD:0019676,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022524,GARD:0021965,GARD:0019681,Rare neurologic disease +GARD:0007831,GARD:0022531,GARD:0020908,GARD:0019681,Rare genetic disease +GARD:0007831,GARD:0022531,GARD:0021479,GARD:0019677,Rare genetic disease +GARD:0007831,GARD:0022531,GARD:0020064,GARD:0019676,Rare genetic disease +GARD:0007831,GARD:0022512,GARD:0019218,GARD:0019681,Rare renal disease +GARD:0007831,GARD:0022513,GARD:0020908,GARD:0019677,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022521,GARD:0021476,GARD:0019676,Rare endocrine disease +GARD:0007831,GARD:0022531,GARD:0019504,GARD:0019676,Rare genetic disease +GARD:0007831,GARD:0022520,GARD:0019528,GARD:0019676,Rare ophthalmic disorder +GARD:0007831,GARD:0022531,GARD:0022298,GARD:0019676,Rare genetic disease +GARD:0007831,GARD:0022513,GARD:0019218,GARD:0019681,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022531,GARD:0021965,GARD:0019681,Rare genetic disease +GARD:0007831,GARD:0022510,GARD:0022298,GARD:0019681,Rare skin disease +GARD:0007831,GARD:0022531,GARD:0019528,GARD:0019676,Rare genetic disease +GARD:0007831,GARD:0022532,GARD:0020064,GARD:0019681,Rare urogenital disease +GARD:0007831,GARD:0022513,GARD:0022298,GARD:0019676,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022531,GARD:0019218,GARD:0019677,Rare genetic disease +GARD:0007831,GARD:0022512,GARD:0019218,GARD:0019677,Rare renal disease +GARD:0007831,GARD:0022514,GARD:0021479,GARD:0019677,Rare gynecologic or obstetric disease +GARD:0007831,GARD:0022531,GARD:0020064,GARD:0019677,Rare genetic disease +GARD:0007831,GARD:0022513,GARD:0020064,GARD:0019676,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022520,GARD:0019504,GARD:0019681,Rare ophthalmic disorder +GARD:0007831,GARD:0022521,GARD:0019294,GARD:0019681,Rare endocrine disease +GARD:0007831,GARD:0022527,GARD:0022298,GARD:0019676,Rare circulatory system disease +GARD:0007831,GARD:0022532,GARD:0021476,GARD:0019677,Rare urogenital disease +GARD:0007831,GARD:0022521,GARD:0019294,GARD:0019677,Rare endocrine disease +GARD:0007831,GARD:0022510,GARD:0022298,GARD:0019676,Rare skin disease +GARD:0007831,GARD:0022532,GARD:0021476,GARD:0019676,Rare urogenital disease +GARD:0007831,GARD:0022527,GARD:0022298,GARD:0019681,Rare circulatory system disease +GARD:0007831,GARD:0022524,GARD:0021965,GARD:0019676,Rare neurologic disease +GARD:0007831,GARD:0022520,GARD:0019528,GARD:0019681,Rare ophthalmic disorder +GARD:0007831,GARD:0022513,GARD:0021476,GARD:0019677,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022529,GARD:0021683,GARD:0019681,Rare infertility +GARD:0007831,GARD:0022531,GARD:0021476,GARD:0019677,Rare genetic disease +GARD:0007831,GARD:0022531,GARD:0021965,GARD:0019676,Rare genetic disease +GARD:0007831,GARD:0022529,GARD:0021683,GARD:0019677,Rare infertility +GARD:0007831,GARD:0022513,GARD:0021476,GARD:0019676,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022531,GARD:0020908,GARD:0019677,Rare genetic disease +GARD:0007831,GARD:0022531,GARD:0021992,GARD:0019676,Rare genetic disease +GARD:0007831,GARD:0022532,GARD:0021476,GARD:0019681,Rare urogenital disease +GARD:0007831,GARD:0022536,GARD:0019218,GARD:0019677,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007831,GARD:0022513,GARD:0019504,GARD:0019677,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022513,GARD:0019504,GARD:0019676,Rare developmental defect during embryogenesis +GARD:0007831,GARD:0022514,GARD:0021479,GARD:0019676,Rare gynecologic or obstetric disease +GARD:0007831,GARD:0022514,GARD:0019294,GARD:0019681,Rare gynecologic or obstetric disease +GARD:0007831,GARD:0022531,GARD:0019218,GARD:0019681,Rare genetic disease +GARD:0007831,GARD:0022531,GARD:0021476,GARD:0019676,Rare genetic disease +GARD:0007831,GARD:0022513,GARD:0021476,GARD:0019681,Rare developmental defect during embryogenesis +GARD:0007837,GARD:0022531,GARD:0018937,GARD:0013201,Rare genetic disease +GARD:0007837,GARD:0022508,GARD:0018937,GARD:0008391,Rare inborn errors of metabolism +GARD:0007837,GARD:0022508,GARD:0018937,GARD:0007269,Rare inborn errors of metabolism +GARD:0007837,GARD:0022508,GARD:0018937,GARD:0013201,Rare inborn errors of metabolism +GARD:0007837,GARD:0022531,GARD:0018937,GARD:0007269,Rare genetic disease +GARD:0007837,GARD:0022531,GARD:0018937,GARD:0005840,Rare genetic disease +GARD:0007837,GARD:0022508,GARD:0018937,GARD:0005840,Rare inborn errors of metabolism +GARD:0007837,GARD:0022531,GARD:0018937,GARD:0002830,Rare genetic disease +GARD:0007837,GARD:0022508,GARD:0018937,GARD:0005843,Rare inborn errors of metabolism +GARD:0007837,GARD:0022531,GARD:0018937,GARD:0005843,Rare genetic disease +GARD:0007837,GARD:0022531,GARD:0018937,GARD:0008391,Rare genetic disease +GARD:0007837,GARD:0022531,GARD:0018937,GARD:0007158,Rare genetic disease +GARD:0007837,GARD:0022508,GARD:0018937,GARD:0002830,Rare inborn errors of metabolism +GARD:0007837,GARD:0022508,GARD:0018937,GARD:0009931,Rare inborn errors of metabolism +GARD:0007837,GARD:0022531,GARD:0018937,GARD:0016522,Rare genetic disease +GARD:0007837,GARD:0022531,GARD:0018937,GARD:0009931,Rare genetic disease +GARD:0007837,GARD:0022508,GARD:0018937,GARD:0016522,Rare inborn errors of metabolism +GARD:0007837,GARD:0022508,GARD:0018937,GARD:0007158,Rare inborn errors of metabolism +GARD:0007842,GARD:0022510,GARD:0019119,GARD:0016723,Rare skin disease +GARD:0007842,GARD:0022510,GARD:0019119,GARD:0012686,Rare skin disease +GARD:0007842,GARD:0022535,GARD:0006987,GARD:0016723,Rare neoplastic disease +GARD:0007842,GARD:0022510,GARD:0019119,GARD:0012687,Rare skin disease +GARD:0007842,GARD:0022535,GARD:0006987,GARD:0012687,Rare neoplastic disease +GARD:0007842,GARD:0022522,GARD:0006987,GARD:0012687,Rare hematologic disease +GARD:0007842,GARD:0022522,GARD:0006987,GARD:0012686,Rare hematologic disease +GARD:0007842,GARD:0022535,GARD:0006987,GARD:0012686,Rare neoplastic disease +GARD:0007842,GARD:0022522,GARD:0006987,GARD:0016723,Rare hematologic disease +GARD:0007843,GARD:0022528,GARD:0019145,GARD:0005442,Rare otorhinolaryngologic disease +GARD:0007843,GARD:0022531,GARD:0019991,GARD:0005435,Rare genetic disease +GARD:0007843,GARD:0022531,GARD:0019538,GARD:0005435,Rare genetic disease +GARD:0007843,GARD:0022513,GARD:0019145,GARD:0005435,Rare developmental defect during embryogenesis +GARD:0007843,GARD:0022528,GARD:0019145,GARD:0005435,Rare otorhinolaryngologic disease +GARD:0007843,GARD:0022531,GARD:0019538,GARD:0005440,Rare genetic disease +GARD:0007843,GARD:0022531,GARD:0019145,GARD:0005442,Rare genetic disease +GARD:0007843,GARD:0022531,GARD:0019991,GARD:0005442,Rare genetic disease +GARD:0007843,GARD:0022513,GARD:0019145,GARD:0005440,Rare developmental defect during embryogenesis +GARD:0007843,GARD:0022513,GARD:0019145,GARD:0005442,Rare developmental defect during embryogenesis +GARD:0007843,GARD:0022528,GARD:0019145,GARD:0005440,Rare otorhinolaryngologic disease +GARD:0007843,GARD:0022520,GARD:0019538,GARD:0005442,Rare ophthalmic disorder +GARD:0007843,GARD:0022531,GARD:0019145,GARD:0005435,Rare genetic disease +GARD:0007843,GARD:0022520,GARD:0019538,GARD:0005440,Rare ophthalmic disorder +GARD:0007843,GARD:0022531,GARD:0019991,GARD:0005440,Rare genetic disease +GARD:0007843,GARD:0022531,GARD:0019538,GARD:0005442,Rare genetic disease +GARD:0007843,GARD:0022531,GARD:0019145,GARD:0005440,Rare genetic disease +GARD:0007843,GARD:0022520,GARD:0019538,GARD:0005435,Rare ophthalmic disorder +GARD:0007846,GARD:0022513,GARD:0008414,,Rare developmental defect during embryogenesis +GARD:0007846,GARD:0022528,GARD:0008414,,Rare otorhinolaryngologic disease +GARD:0007846,GARD:0022507,GARD:0008414,,Rare maxillo-facial surgical disease +GARD:0007846,GARD:0022531,GARD:0008414,,Rare genetic disease +GARD:0007848,GARD:0022512,GARD:0019255,,Rare renal disease +GARD:0007848,GARD:0022508,GARD:0019255,,Rare inborn errors of metabolism +GARD:0007848,GARD:0022531,GARD:0019255,,Rare genetic disease +GARD:0007848,GARD:0022510,GARD:0019255,,Rare skin disease +GARD:0007848,GARD:0022524,GARD:0019255,,Rare neurologic disease +GARD:0007848,GARD:0022506,GARD:0019255,,Rare hepatic disease +GARD:0007851,GARD:0022525,GARD:0019984,,Rare systemic or rheumatologic disease +GARD:0007851,GARD:0022527,GARD:0019984,,Rare circulatory system disease +GARD:0007854,GARD:0022520,GARD:0019517,,Rare ophthalmic disorder +GARD:0007854,GARD:0022520,GARD:0022086,,Rare ophthalmic disorder +GARD:0007855,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0007855,GARD:0022512,GARD:0021420,,Rare renal disease +GARD:0007855,GARD:0022531,GARD:0019228,,Rare genetic disease +GARD:0007855,GARD:0022521,GARD:0019766,,Rare endocrine disease +GARD:0007855,GARD:0022524,GARD:0020742,,Rare neurologic disease +GARD:0007855,GARD:0022512,GARD:0019228,,Rare renal disease +GARD:0007855,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0007855,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0007855,GARD:0022535,GARD:0019765,,Rare neoplastic disease +GARD:0007855,GARD:0022531,GARD:0020281,,Rare genetic disease +GARD:0007855,GARD:0022531,GARD:0021420,,Rare genetic disease +GARD:0007855,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0007855,GARD:0022535,GARD:0021420,,Rare neoplastic disease +GARD:0007855,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0007855,GARD:0022531,GARD:0019766,,Rare genetic disease +GARD:0007855,GARD:0022521,GARD:0019765,,Rare endocrine disease +GARD:0007855,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0007855,GARD:0022535,GARD:0019766,,Rare neoplastic disease +GARD:0007857,GARD:0022523,GARD:0020026,,Rare immune disease +GARD:0007860,GARD:0022521,GARD:0005770,,Rare endocrine disease +GARD:0007860,GARD:0022513,GARD:0005770,,Rare developmental defect during embryogenesis +GARD:0007860,GARD:0022520,GARD:0005770,,Rare ophthalmic disorder +GARD:0007860,GARD:0022512,GARD:0005770,,Rare renal disease +GARD:0007860,GARD:0022510,GARD:0005770,,Rare skin disease +GARD:0007860,GARD:0022511,GARD:0005770,,Rare bone disease +GARD:0007860,GARD:0022531,GARD:0005770,,Rare genetic disease +GARD:0007862,GARD:0022524,GARD:0020239,,Rare neurologic disease +GARD:0007862,GARD:0022520,GARD:0008577,,Rare ophthalmic disorder +GARD:0007862,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0007864,GARD:0022531,GARD:0016523,,Rare genetic disease +GARD:0007864,GARD:0022536,GARD:0016523,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007864,GARD:0022512,GARD:0016523,,Rare renal disease +GARD:0007864,GARD:0022506,GARD:0016523,,Rare hepatic disease +GARD:0007864,GARD:0022508,GARD:0016523,,Rare inborn errors of metabolism +GARD:0007866,GARD:0022535,GARD:0019921,GARD:0017570,Rare neoplastic disease +GARD:0007866,GARD:0022531,GARD:0019431,GARD:0005408,Rare genetic disease +GARD:0007866,GARD:0022520,GARD:0019795,GARD:0017570,Rare ophthalmic disorder +GARD:0007866,GARD:0022531,GARD:0022213,GARD:0005408,Rare genetic disease +GARD:0007866,GARD:0022536,GARD:0022061,GARD:0005408,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007866,GARD:0022520,GARD:0019795,GARD:0005408,Rare ophthalmic disorder +GARD:0007866,GARD:0022535,GARD:0019014,GARD:0017570,Rare neoplastic disease +GARD:0007866,GARD:0022531,GARD:0019205,GARD:0017570,Rare genetic disease +GARD:0007866,GARD:0022524,GARD:0020742,GARD:0005408,Rare neurologic disease +GARD:0007866,GARD:0022527,GARD:0020010,GARD:0005408,Rare circulatory system disease +GARD:0007866,GARD:0022512,GARD:0020010,GARD:0005408,Rare renal disease +GARD:0007866,GARD:0022531,GARD:0020276,GARD:0017570,Rare genetic disease +GARD:0007866,GARD:0022531,GARD:0020270,GARD:0005408,Rare genetic disease +GARD:0007866,GARD:0022531,GARD:0020010,GARD:0005408,Rare genetic disease +GARD:0007866,GARD:0022531,GARD:0020310,GARD:0005408,Rare genetic disease +GARD:0007866,GARD:0022524,GARD:0020742,GARD:0017570,Rare neurologic disease +GARD:0007866,GARD:0022531,GARD:0019431,GARD:0017570,Rare genetic disease +GARD:0007866,GARD:0022535,GARD:0019014,GARD:0005408,Rare neoplastic disease +GARD:0007866,GARD:0022513,GARD:0019431,GARD:0017570,Rare developmental defect during embryogenesis +GARD:0007866,GARD:0022527,GARD:0020010,GARD:0017570,Rare circulatory system disease +GARD:0007866,GARD:0022531,GARD:0020270,GARD:0017570,Rare genetic disease +GARD:0007866,GARD:0022531,GARD:0020276,GARD:0005408,Rare genetic disease +GARD:0007866,GARD:0022510,GARD:0019014,GARD:0005408,Rare skin disease +GARD:0007866,GARD:0022511,GARD:0019205,GARD:0017570,Rare bone disease +GARD:0007866,GARD:0022531,GARD:0020084,GARD:0005408,Rare genetic disease +GARD:0007866,GARD:0022531,GARD:0020084,GARD:0017570,Rare genetic disease +GARD:0007866,GARD:0022531,GARD:0019921,GARD:0005408,Rare genetic disease +GARD:0007866,GARD:0022531,GARD:0021965,GARD:0005408,Rare genetic disease +GARD:0007866,GARD:0022512,GARD:0020010,GARD:0017570,Rare renal disease +GARD:0007866,GARD:0022510,GARD:0019004,GARD:0017570,Rare skin disease +GARD:0007866,GARD:0022524,GARD:0020084,GARD:0017570,Rare neurologic disease +GARD:0007866,GARD:0022524,GARD:0021965,GARD:0005408,Rare neurologic disease +GARD:0007866,GARD:0022535,GARD:0019795,GARD:0017570,Rare neoplastic disease +GARD:0007866,GARD:0022535,GARD:0019795,GARD:0005408,Rare neoplastic disease +GARD:0007866,GARD:0022536,GARD:0022061,GARD:0017570,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007866,GARD:0022524,GARD:0020084,GARD:0005408,Rare neurologic disease +GARD:0007866,GARD:0022531,GARD:0019921,GARD:0017570,Rare genetic disease +GARD:0007866,GARD:0022513,GARD:0019431,GARD:0005408,Rare developmental defect during embryogenesis +GARD:0007866,GARD:0022513,GARD:0019205,GARD:0005408,Rare developmental defect during embryogenesis +GARD:0007866,GARD:0022511,GARD:0019205,GARD:0005408,Rare bone disease +GARD:0007866,GARD:0022531,GARD:0021965,GARD:0017570,Rare genetic disease +GARD:0007866,GARD:0022513,GARD:0019205,GARD:0017570,Rare developmental defect during embryogenesis +GARD:0007866,GARD:0022531,GARD:0020310,GARD:0017570,Rare genetic disease +GARD:0007866,GARD:0022535,GARD:0019921,GARD:0005408,Rare neoplastic disease +GARD:0007866,GARD:0022531,GARD:0020010,GARD:0017570,Rare genetic disease +GARD:0007866,GARD:0022510,GARD:0019004,GARD:0005408,Rare skin disease +GARD:0007866,GARD:0022531,GARD:0019205,GARD:0005408,Rare genetic disease +GARD:0007866,GARD:0022524,GARD:0021965,GARD:0017570,Rare neurologic disease +GARD:0007866,GARD:0022510,GARD:0019014,GARD:0017570,Rare skin disease +GARD:0007866,GARD:0022531,GARD:0022213,GARD:0017570,Rare genetic disease +GARD:0007867,GARD:0022531,GARD:0018873,GARD:0017025,Rare genetic disease +GARD:0007867,GARD:0022531,GARD:0018873,GARD:0017020,Rare genetic disease +GARD:0007867,GARD:0022522,GARD:0018873,GARD:0017025,Rare hematologic disease +GARD:0007867,GARD:0022522,GARD:0018873,GARD:0017020,Rare hematologic disease +GARD:0007867,GARD:0022522,GARD:0018873,GARD:0017019,Rare hematologic disease +GARD:0007867,GARD:0022531,GARD:0018873,GARD:0017019,Rare genetic disease +GARD:0007871,GARD:0022531,GARD:0022098,,Rare genetic disease +GARD:0007871,GARD:0022520,GARD:0022098,,Rare ophthalmic disorder +GARD:0007872,GARD:0022536,GARD:0021244,GARD:0015486,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007872,GARD:0022522,GARD:0021244,GARD:0015486,Rare hematologic disease +GARD:0007872,GARD:0022535,GARD:0021244,GARD:0015486,Rare neoplastic disease +GARD:0007872,GARD:0022524,GARD:0020387,GARD:0015486,Rare neurologic disease +GARD:0007873,GARD:0022516,GARD:0012331,,Rare gastroenterologic disease +GARD:0007873,GARD:0022531,GARD:0020060,,Rare genetic disease +GARD:0007876,GARD:0022522,GARD:0005870,,Rare hematologic disease +GARD:0007878,GARD:0022531,GARD:0019213,GARD:0016381,Rare genetic disease +GARD:0007878,GARD:0022513,GARD:0019832,GARD:0016381,Rare developmental defect during embryogenesis +GARD:0007878,GARD:0022531,GARD:0022021,GARD:0016381,Rare genetic disease +GARD:0007878,GARD:0022531,GARD:0022021,GARD:0016235,Rare genetic disease +GARD:0007878,GARD:0022513,GARD:0022021,GARD:0016381,Rare developmental defect during embryogenesis +GARD:0007878,GARD:0022524,GARD:0019832,GARD:0016235,Rare neurologic disease +GARD:0007878,GARD:0022511,GARD:0022021,GARD:0016381,Rare bone disease +GARD:0007878,GARD:0022531,GARD:0019213,GARD:0016235,Rare genetic disease +GARD:0007878,GARD:0022513,GARD:0019213,GARD:0016381,Rare developmental defect during embryogenesis +GARD:0007878,GARD:0022513,GARD:0022021,GARD:0016235,Rare developmental defect during embryogenesis +GARD:0007878,GARD:0022511,GARD:0022021,GARD:0016235,Rare bone disease +GARD:0007878,GARD:0022524,GARD:0019832,GARD:0016381,Rare neurologic disease +GARD:0007878,GARD:0022531,GARD:0022441,GARD:0016381,Rare genetic disease +GARD:0007878,GARD:0022513,GARD:0019213,GARD:0016235,Rare developmental defect during embryogenesis +GARD:0007878,GARD:0022513,GARD:0019832,GARD:0016235,Rare developmental defect during embryogenesis +GARD:0007878,GARD:0022531,GARD:0022441,GARD:0016235,Rare genetic disease +GARD:0007879,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0007880,GARD:0022525,GARD:0013011,,Rare systemic or rheumatologic disease +GARD:0007880,GARD:0022524,GARD:0020416,,Rare neurologic disease +GARD:0007880,GARD:0022536,GARD:0013011,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007880,GARD:0022512,GARD:0022292,,Rare renal disease +GARD:0007880,GARD:0022524,GARD:0020090,,Rare neurologic disease +GARD:0007880,GARD:0022536,GARD:0022292,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007880,GARD:0021079,GARD:0013011,,Rare systemic or rheumatological disease of childhood +GARD:0007880,GARD:0022527,GARD:0013011,,Rare circulatory system disease +GARD:0007880,GARD:0022517,GARD:0013011,,Rare respiratory disease +GARD:0007881,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0007883,GARD:0022524,GARD:0004531,,Rare neurologic disease +GARD:0007883,GARD:0022531,GARD:0004531,,Rare genetic disease +GARD:0007885,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0007885,GARD:0022531,GARD:0020545,,Rare genetic disease +GARD:0007885,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0007885,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0007885,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0007885,GARD:0022510,GARD:0019017,,Rare skin disease +GARD:0007885,GARD:0022510,GARD:0020545,,Rare skin disease +GARD:0007885,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0007885,GARD:0022531,GARD:0019017,,Rare genetic disease +GARD:0007885,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0007885,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0007885,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0019436,GARD:0018617,Rare neurologic disease +GARD:0007887,GARD:0022524,GARD:0022440,GARD:0015892,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0020241,GARD:0013318,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0022440,GARD:0013318,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0019436,GARD:0016093,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0022440,GARD:0016270,Rare neurologic disease +GARD:0007887,GARD:0022524,GARD:0020241,GARD:0016336,Rare neurologic disease +GARD:0007887,GARD:0022524,GARD:0022440,GARD:0015298,Rare neurologic disease +GARD:0007887,GARD:0022524,GARD:0022440,GARD:0016336,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0020241,GARD:0016182,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0019436,GARD:0016093,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0020241,GARD:0016336,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0022440,GARD:0016063,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0019569,GARD:0013318,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0019436,GARD:0016270,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0019569,GARD:0015298,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0022440,GARD:0018617,Rare neurologic disease +GARD:0007887,GARD:0022524,GARD:0020241,GARD:0018617,Rare neurologic disease +GARD:0007887,GARD:0022524,GARD:0019436,GARD:0013318,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0020241,GARD:0016063,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0020241,GARD:0016093,Rare neurologic disease +GARD:0007887,GARD:0022524,GARD:0022440,GARD:0016093,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0019436,GARD:0016182,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0022440,GARD:0016336,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0019436,GARD:0016336,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0020241,GARD:0016270,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0020241,GARD:0016093,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0019436,GARD:0012949,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0019569,GARD:0016336,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0022440,GARD:0016182,Rare neurologic disease +GARD:0007887,GARD:0022524,GARD:0019436,GARD:0016063,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0019569,GARD:0012949,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0022440,GARD:0016270,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0019436,GARD:0012949,Rare neurologic disease +GARD:0007887,GARD:0022524,GARD:0020241,GARD:0016182,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0022440,GARD:0016093,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0022440,GARD:0018617,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0019436,GARD:0015298,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0019436,GARD:0015298,Rare neurologic disease +GARD:0007887,GARD:0022524,GARD:0019436,GARD:0016270,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0022440,GARD:0016063,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0020241,GARD:0012949,Rare neurologic disease +GARD:0007887,GARD:0022524,GARD:0022440,GARD:0012949,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0022440,GARD:0015298,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0020241,GARD:0012949,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0019436,GARD:0016182,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0020241,GARD:0018617,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0019569,GARD:0018617,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0022440,GARD:0015892,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0020241,GARD:0016270,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0022440,GARD:0016182,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0020241,GARD:0013318,Rare neurologic disease +GARD:0007887,GARD:0022524,GARD:0022440,GARD:0013318,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0019436,GARD:0015892,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0019436,GARD:0013318,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0022440,GARD:0012949,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0019569,GARD:0016270,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0020241,GARD:0016063,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0019569,GARD:0016063,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0020241,GARD:0015298,Rare neurologic disease +GARD:0007887,GARD:0022524,GARD:0019436,GARD:0016336,Rare neurologic disease +GARD:0007887,GARD:0022524,GARD:0019436,GARD:0015892,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0019569,GARD:0016182,Rare genetic disease +GARD:0007887,GARD:0022524,GARD:0020241,GARD:0015892,Rare neurologic disease +GARD:0007887,GARD:0022531,GARD:0020241,GARD:0015298,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0019436,GARD:0016063,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0019569,GARD:0016093,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0019569,GARD:0015892,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0020241,GARD:0015892,Rare genetic disease +GARD:0007887,GARD:0022531,GARD:0019436,GARD:0018617,Rare genetic disease +GARD:0007888,GARD:0022509,GARD:0019433,,Rare infectious disease +GARD:0007888,GARD:0022524,GARD:0019433,,Rare neurologic disease +GARD:0007888,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0007889,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0007889,GARD:0022523,GARD:0020322,,Rare immune disease +GARD:0007889,GARD:0022531,GARD:0020322,,Rare genetic disease +GARD:0007889,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0007889,GARD:0022524,GARD:0021276,,Rare neurologic disease +GARD:0007890,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0007890,GARD:0022524,GARD:0020358,,Rare neurologic disease +GARD:0007890,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0007890,GARD:0022531,GARD:0020358,,Rare genetic disease +GARD:0007890,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0007890,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0007890,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0007891,GARD:0022531,GARD:0020827,,Rare genetic disease +GARD:0007891,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0007891,GARD:0022513,GARD:0019504,,Rare developmental defect during embryogenesis +GARD:0007891,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0007891,GARD:0022513,GARD:0020827,,Rare developmental defect during embryogenesis +GARD:0007891,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0007891,GARD:0022531,GARD:0020010,,Rare genetic disease +GARD:0007891,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0007891,GARD:0022512,GARD:0020010,,Rare renal disease +GARD:0007891,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0007891,GARD:0022531,GARD:0019504,,Rare genetic disease +GARD:0007891,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0007891,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0007891,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0007891,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007891,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0007891,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0007891,GARD:0022520,GARD:0019504,,Rare ophthalmic disorder +GARD:0007891,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0007891,GARD:0022527,GARD:0020010,,Rare circulatory system disease +GARD:0007891,GARD:0022524,GARD:0019389,,Rare neurologic disease +GARD:0007891,GARD:0022531,GARD:0021279,,Rare genetic disease +GARD:0007891,GARD:0022524,GARD:0021279,,Rare neurologic disease +GARD:0007892,GARD:0022535,GARD:0019233,GARD:0015336,Rare neoplastic disease +GARD:0007892,GARD:0022512,GARD:0019233,GARD:0015336,Rare renal disease +GARD:0007892,GARD:0022536,GARD:0022061,GARD:0016162,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007892,GARD:0022536,GARD:0022061,GARD:0015328,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007892,GARD:0022531,GARD:0020307,GARD:0015328,Rare genetic disease +GARD:0007892,GARD:0022531,GARD:0020307,GARD:0015124,Rare genetic disease +GARD:0007892,GARD:0022536,GARD:0022061,GARD:0008559,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007892,GARD:0022531,GARD:0020307,GARD:0016162,Rare genetic disease +GARD:0007892,GARD:0022512,GARD:0019233,GARD:0015125,Rare renal disease +GARD:0007892,GARD:0022531,GARD:0020307,GARD:0015336,Rare genetic disease +GARD:0007892,GARD:0022535,GARD:0019233,GARD:0015124,Rare neoplastic disease +GARD:0007892,GARD:0022535,GARD:0019233,GARD:0016162,Rare neoplastic disease +GARD:0007892,GARD:0022535,GARD:0019233,GARD:0015125,Rare neoplastic disease +GARD:0007892,GARD:0022512,GARD:0019233,GARD:0008559,Rare renal disease +GARD:0007892,GARD:0022535,GARD:0019233,GARD:0015328,Rare neoplastic disease +GARD:0007892,GARD:0022531,GARD:0020307,GARD:0008559,Rare genetic disease +GARD:0007892,GARD:0022512,GARD:0019233,GARD:0015328,Rare renal disease +GARD:0007892,GARD:0022536,GARD:0022061,GARD:0015336,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007892,GARD:0022512,GARD:0019233,GARD:0015124,Rare renal disease +GARD:0007892,GARD:0022536,GARD:0022061,GARD:0015125,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007892,GARD:0022536,GARD:0022061,GARD:0015124,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007892,GARD:0022512,GARD:0019233,GARD:0016162,Rare renal disease +GARD:0007892,GARD:0022531,GARD:0020307,GARD:0015125,Rare genetic disease +GARD:0007892,GARD:0022535,GARD:0019233,GARD:0008559,Rare neoplastic disease +GARD:0007893,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0007893,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0007893,GARD:0022508,GARD:0021354,,Rare inborn errors of metabolism +GARD:0007893,GARD:0022531,GARD:0019546,,Rare genetic disease +GARD:0007893,GARD:0022524,GARD:0019389,,Rare neurologic disease +GARD:0007893,GARD:0022520,GARD:0019546,,Rare ophthalmic disorder +GARD:0007893,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0007893,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007893,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0007893,GARD:0022531,GARD:0020553,,Rare genetic disease +GARD:0007893,GARD:0022524,GARD:0021596,,Rare neurologic disease +GARD:0007893,GARD:0022531,GARD:0021596,,Rare genetic disease +GARD:0007893,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0007893,GARD:0022531,GARD:0021286,,Rare genetic disease +GARD:0007893,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0007893,GARD:0022524,GARD:0021269,,Rare neurologic disease +GARD:0007893,GARD:0022531,GARD:0021354,,Rare genetic disease +GARD:0007893,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0007893,GARD:0022524,GARD:0020553,,Rare neurologic disease +GARD:0007893,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0007894,GARD:0022511,GARD:0017610,,Rare bone disease +GARD:0007894,GARD:0022513,GARD:0017610,,Rare developmental defect during embryogenesis +GARD:0007894,GARD:0022531,GARD:0017610,,Rare genetic disease +GARD:0007895,GARD:0022531,GARD:0020259,GARD:0015325,Rare genetic disease +GARD:0007895,GARD:0022531,GARD:0020278,GARD:0015809,Rare genetic disease +GARD:0007895,GARD:0022531,GARD:0019470,GARD:0015809,Rare genetic disease +GARD:0007895,GARD:0022536,GARD:0022063,GARD:0015809,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007895,GARD:0022523,GARD:0021510,GARD:0015325,Rare immune disease +GARD:0007895,GARD:0022510,GARD:0019019,GARD:0015325,Rare skin disease +GARD:0007895,GARD:0022536,GARD:0022063,GARD:0015325,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007895,GARD:0022510,GARD:0019019,GARD:0015809,Rare skin disease +GARD:0007895,GARD:0022522,GARD:0019470,GARD:0015325,Rare hematologic disease +GARD:0007895,GARD:0022531,GARD:0020259,GARD:0015809,Rare genetic disease +GARD:0007895,GARD:0022535,GARD:0020259,GARD:0015809,Rare neoplastic disease +GARD:0007895,GARD:0022531,GARD:0021510,GARD:0015809,Rare genetic disease +GARD:0007895,GARD:0022523,GARD:0021510,GARD:0015809,Rare immune disease +GARD:0007895,GARD:0022531,GARD:0020278,GARD:0015325,Rare genetic disease +GARD:0007895,GARD:0022531,GARD:0019470,GARD:0015325,Rare genetic disease +GARD:0007895,GARD:0022535,GARD:0020259,GARD:0015325,Rare neoplastic disease +GARD:0007895,GARD:0022522,GARD:0019470,GARD:0015809,Rare hematologic disease +GARD:0007895,GARD:0022531,GARD:0021510,GARD:0015325,Rare genetic disease +GARD:0007896,GARD:0022513,GARD:0020808,,Rare developmental defect during embryogenesis +GARD:0007896,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0007896,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0007896,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0007896,GARD:0022518,GARD:0020212,,Rare surgical thoracic disease +GARD:0007896,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0007896,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0007896,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0007896,GARD:0022531,GARD:0020808,,Rare genetic disease +GARD:0007896,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0007896,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0007896,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0007896,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0007896,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0007896,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0007898,GARD:0022520,GARD:0021845,GARD:0015313,Rare ophthalmic disorder +GARD:0007898,GARD:0022531,GARD:0019145,GARD:0015374,Rare genetic disease +GARD:0007898,GARD:0022528,GARD:0019145,GARD:0015374,Rare otorhinolaryngologic disease +GARD:0007898,GARD:0022521,GARD:0020215,GARD:0015374,Rare endocrine disease +GARD:0007898,GARD:0022531,GARD:0020312,GARD:0015313,Rare genetic disease +GARD:0007898,GARD:0022520,GARD:0021845,GARD:0015374,Rare ophthalmic disorder +GARD:0007898,GARD:0022521,GARD:0020215,GARD:0015313,Rare endocrine disease +GARD:0007898,GARD:0022528,GARD:0019145,GARD:0015313,Rare otorhinolaryngologic disease +GARD:0007898,GARD:0022531,GARD:0021845,GARD:0015374,Rare genetic disease +GARD:0007898,GARD:0022531,GARD:0019145,GARD:0015313,Rare genetic disease +GARD:0007898,GARD:0022513,GARD:0019145,GARD:0015313,Rare developmental defect during embryogenesis +GARD:0007898,GARD:0022513,GARD:0019145,GARD:0015374,Rare developmental defect during embryogenesis +GARD:0007898,GARD:0022531,GARD:0020312,GARD:0015374,Rare genetic disease +GARD:0007898,GARD:0022531,GARD:0021845,GARD:0015313,Rare genetic disease +GARD:0007899,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0007899,GARD:0022521,GARD:0012097,,Rare endocrine disease +GARD:0007899,GARD:0022508,GARD:0012097,,Rare inborn errors of metabolism +GARD:0007899,GARD:0022531,GARD:0012097,,Rare genetic disease +GARD:0007899,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0007899,GARD:0022536,GARD:0012097,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007900,GARD:0022527,GARD:0012662,,Rare circulatory system disease +GARD:0007900,GARD:0022513,GARD:0012662,,Rare developmental defect during embryogenesis +GARD:0007900,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0007900,GARD:0022524,GARD:0012662,,Rare neurologic disease +GARD:0007904,GARD:0022520,GARD:0019521,GARD:0015250,Rare ophthalmic disorder +GARD:0007904,GARD:0022510,GARD:0021104,GARD:0015250,Rare skin disease +GARD:0007904,GARD:0022531,GARD:0019521,GARD:0015250,Rare genetic disease +GARD:0007904,GARD:0022531,GARD:0021104,GARD:0015250,Rare genetic disease +GARD:0007906,GARD:0022535,GARD:0010915,,Rare neoplastic disease +GARD:0007906,GARD:0022536,GARD:0010915,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007906,GARD:0022523,GARD:0010915,,Rare immune disease +GARD:0007906,GARD:0022531,GARD:0010915,,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0022170,GARD:0005624,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0019503,GARD:0016452,Rare genetic disease +GARD:0007910,GARD:0022513,GARD:0019906,GARD:0005624,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022520,GARD:0019527,GARD:0005625,Rare ophthalmic disorder +GARD:0007910,GARD:0022531,GARD:0021543,GARD:0005627,Rare genetic disease +GARD:0007910,GARD:0022513,GARD:0019904,GARD:0005629,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022520,GARD:0022081,GARD:0005624,Rare ophthalmic disorder +GARD:0007910,GARD:0022513,GARD:0019906,GARD:0016452,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022513,GARD:0019904,GARD:0005626,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022531,GARD:0019904,GARD:0005628,Rare genetic disease +GARD:0007910,GARD:0022520,GARD:0019527,GARD:0005628,Rare ophthalmic disorder +GARD:0007910,GARD:0022524,GARD:0019414,GARD:0005628,Rare neurologic disease +GARD:0007910,GARD:0022520,GARD:0022081,GARD:0005626,Rare ophthalmic disorder +GARD:0007910,GARD:0022524,GARD:0022440,GARD:0005624,Rare neurologic disease +GARD:0007910,GARD:0022524,GARD:0022440,GARD:0005626,Rare neurologic disease +GARD:0007910,GARD:0022531,GARD:0022170,GARD:0005626,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0019503,GARD:0005624,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0020259,GARD:0005628,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0019414,GARD:0016452,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0020259,GARD:0005627,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0019414,GARD:0005627,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0020259,GARD:0005624,Rare genetic disease +GARD:0007910,GARD:0022520,GARD:0019527,GARD:0005627,Rare ophthalmic disorder +GARD:0007910,GARD:0022531,GARD:0022170,GARD:0005629,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0019904,GARD:0005627,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0020277,GARD:0005624,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0019414,GARD:0005629,Rare genetic disease +GARD:0007910,GARD:0022510,GARD:0019018,GARD:0005626,Rare skin disease +GARD:0007910,GARD:0022520,GARD:0019527,GARD:0016452,Rare ophthalmic disorder +GARD:0007910,GARD:0022524,GARD:0022440,GARD:0005627,Rare neurologic disease +GARD:0007910,GARD:0022531,GARD:0020277,GARD:0005626,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0022162,GARD:0005626,Rare genetic disease +GARD:0007910,GARD:0022513,GARD:0019503,GARD:0016452,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022513,GARD:0019503,GARD:0005629,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022531,GARD:0022440,GARD:0005626,Rare genetic disease +GARD:0007910,GARD:0022535,GARD:0020259,GARD:0005624,Rare neoplastic disease +GARD:0007910,GARD:0022513,GARD:0019503,GARD:0005624,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022535,GARD:0020259,GARD:0005625,Rare neoplastic disease +GARD:0007910,GARD:0022531,GARD:0019414,GARD:0005628,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0019904,GARD:0005625,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0021543,GARD:0016452,Rare genetic disease +GARD:0007910,GARD:0022513,GARD:0022081,GARD:0016452,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022520,GARD:0019527,GARD:0005629,Rare ophthalmic disorder +GARD:0007910,GARD:0022535,GARD:0020259,GARD:0005627,Rare neoplastic disease +GARD:0007910,GARD:0022510,GARD:0019018,GARD:0005624,Rare skin disease +GARD:0007910,GARD:0022531,GARD:0020259,GARD:0005626,Rare genetic disease +GARD:0007910,GARD:0022520,GARD:0022081,GARD:0016452,Rare ophthalmic disorder +GARD:0007910,GARD:0022531,GARD:0020259,GARD:0005625,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0020277,GARD:0005627,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0021543,GARD:0005628,Rare genetic disease +GARD:0007910,GARD:0022520,GARD:0019503,GARD:0005628,Rare ophthalmic disorder +GARD:0007910,GARD:0022513,GARD:0019503,GARD:0005628,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022531,GARD:0022162,GARD:0005628,Rare genetic disease 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+GARD:0007910,GARD:0022513,GARD:0022081,GARD:0005624,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022520,GARD:0019527,GARD:0005626,Rare ophthalmic disorder +GARD:0007910,GARD:0022524,GARD:0019414,GARD:0005629,Rare neurologic disease +GARD:0007910,GARD:0022531,GARD:0022170,GARD:0016452,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0022170,GARD:0005625,Rare genetic disease +GARD:0007910,GARD:0022524,GARD:0019414,GARD:0016452,Rare neurologic disease +GARD:0007910,GARD:0022531,GARD:0021543,GARD:0005626,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0020259,GARD:0005629,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0022162,GARD:0005627,Rare genetic disease +GARD:0007910,GARD:0022513,GARD:0019904,GARD:0016452,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022510,GARD:0019018,GARD:0005629,Rare skin disease +GARD:0007910,GARD:0022513,GARD:0019906,GARD:0005628,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022531,GARD:0019904,GARD:0016452,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0021543,GARD:0005625,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0019503,GARD:0005627,Rare genetic disease +GARD:0007910,GARD:0022510,GARD:0019018,GARD:0005625,Rare skin disease +GARD:0007910,GARD:0022524,GARD:0022440,GARD:0005628,Rare neurologic disease +GARD:0007910,GARD:0022531,GARD:0020277,GARD:0005629,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0022440,GARD:0016452,Rare genetic disease +GARD:0007910,GARD:0022510,GARD:0019018,GARD:0016452,Rare skin disease +GARD:0007910,GARD:0022524,GARD:0019414,GARD:0005627,Rare neurologic disease +GARD:0007910,GARD:0022531,GARD:0020259,GARD:0016452,Rare genetic disease +GARD:0007910,GARD:0022520,GARD:0019503,GARD:0005626,Rare ophthalmic disorder +GARD:0007910,GARD:0022513,GARD:0019904,GARD:0005625,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022535,GARD:0020259,GARD:0005629,Rare neoplastic disease +GARD:0007910,GARD:0022513,GARD:0022081,GARD:0005628,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022513,GARD:0022081,GARD:0005625,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022535,GARD:0020259,GARD:0005628,Rare neoplastic disease +GARD:0007910,GARD:0022520,GARD:0019527,GARD:0005624,Rare ophthalmic disorder +GARD:0007910,GARD:0022531,GARD:0019503,GARD:0005628,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0020277,GARD:0005625,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0022170,GARD:0005628,Rare genetic disease +GARD:0007910,GARD:0022520,GARD:0019503,GARD:0016452,Rare ophthalmic disorder +GARD:0007910,GARD:0022531,GARD:0022162,GARD:0005624,Rare genetic disease +GARD:0007910,GARD:0022524,GARD:0022440,GARD:0016452,Rare neurologic disease +GARD:0007910,GARD:0022531,GARD:0020277,GARD:0016452,Rare genetic disease +GARD:0007910,GARD:0022535,GARD:0020259,GARD:0005626,Rare neoplastic disease +GARD:0007910,GARD:0022520,GARD:0022081,GARD:0005627,Rare ophthalmic disorder +GARD:0007910,GARD:0022531,GARD:0019904,GARD:0005624,Rare genetic disease +GARD:0007910,GARD:0022520,GARD:0022081,GARD:0005628,Rare ophthalmic disorder +GARD:0007910,GARD:0022531,GARD:0019503,GARD:0005625,Rare genetic disease +GARD:0007910,GARD:0022513,GARD:0022081,GARD:0005626,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022531,GARD:0021543,GARD:0005629,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0022440,GARD:0005627,Rare genetic disease +GARD:0007910,GARD:0022510,GARD:0019018,GARD:0005628,Rare skin disease +GARD:0007910,GARD:0022513,GARD:0019906,GARD:0005626,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022520,GARD:0022081,GARD:0005625,Rare ophthalmic disorder +GARD:0007910,GARD:0022513,GARD:0019906,GARD:0005625,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022531,GARD:0022440,GARD:0005625,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0022170,GARD:0005627,Rare genetic disease +GARD:0007910,GARD:0022513,GARD:0019503,GARD:0005626,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022513,GARD:0019906,GARD:0005627,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022520,GARD:0019503,GARD:0005629,Rare ophthalmic disorder +GARD:0007910,GARD:0022520,GARD:0019503,GARD:0005627,Rare ophthalmic disorder +GARD:0007910,GARD:0022531,GARD:0019904,GARD:0005629,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0020277,GARD:0005628,Rare genetic disease +GARD:0007910,GARD:0022535,GARD:0020259,GARD:0016452,Rare neoplastic disease +GARD:0007910,GARD:0022513,GARD:0019904,GARD:0005628,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022513,GARD:0019904,GARD:0005624,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022524,GARD:0019414,GARD:0005626,Rare neurologic disease +GARD:0007910,GARD:0022531,GARD:0022440,GARD:0005629,Rare genetic disease +GARD:0007910,GARD:0022520,GARD:0022081,GARD:0005629,Rare ophthalmic disorder +GARD:0007910,GARD:0022520,GARD:0019503,GARD:0005625,Rare ophthalmic disorder +GARD:0007910,GARD:0022520,GARD:0019503,GARD:0005624,Rare ophthalmic disorder +GARD:0007910,GARD:0022531,GARD:0019904,GARD:0005626,Rare genetic disease +GARD:0007910,GARD:0022513,GARD:0019904,GARD:0005627,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022531,GARD:0019414,GARD:0005625,Rare genetic disease +GARD:0007910,GARD:0022531,GARD:0022162,GARD:0005629,Rare genetic disease +GARD:0007910,GARD:0022524,GARD:0019414,GARD:0005624,Rare neurologic disease +GARD:0007910,GARD:0022531,GARD:0021543,GARD:0005624,Rare genetic disease +GARD:0007910,GARD:0022513,GARD:0019503,GARD:0005627,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022531,GARD:0022440,GARD:0005624,Rare genetic disease +GARD:0007910,GARD:0022524,GARD:0022440,GARD:0005629,Rare neurologic disease +GARD:0007910,GARD:0022513,GARD:0019906,GARD:0005629,Rare developmental defect during embryogenesis +GARD:0007910,GARD:0022531,GARD:0019503,GARD:0005626,Rare genetic disease +GARD:0007914,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0007914,GARD:0022509,GARD:0018690,,Rare infectious disease +GARD:0007917,GARD:0022531,GARD:0019900,GARD:0015877,Rare genetic disease +GARD:0007917,GARD:0022506,GARD:0011890,GARD:0015149,Rare hepatic disease +GARD:0007917,GARD:0022531,GARD:0019900,GARD:0015864,Rare genetic disease +GARD:0007917,GARD:0022520,GARD:0011890,GARD:0015874,Rare ophthalmic disorder +GARD:0007917,GARD:0022520,GARD:0011890,GARD:0015864,Rare ophthalmic disorder +GARD:0007917,GARD:0022531,GARD:0019900,GARD:0015874,Rare genetic disease +GARD:0007917,GARD:0022524,GARD:0020551,GARD:0015859,Rare neurologic disease +GARD:0007917,GARD:0022513,GARD:0019900,GARD:0015876,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022524,GARD:0020551,GARD:0015873,Rare neurologic disease +GARD:0007917,GARD:0022524,GARD:0011890,GARD:0015877,Rare neurologic disease +GARD:0007917,GARD:0022531,GARD:0019533,GARD:0015877,Rare genetic disease +GARD:0007917,GARD:0022520,GARD:0011890,GARD:0015873,Rare ophthalmic disorder +GARD:0007917,GARD:0022512,GARD:0019229,GARD:0015864,Rare renal disease +GARD:0007917,GARD:0022520,GARD:0011890,GARD:0015861,Rare ophthalmic disorder +GARD:0007917,GARD:0022513,GARD:0019900,GARD:0015858,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022531,GARD:0011890,GARD:0015866,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0020551,GARD:0015858,Rare genetic disease +GARD:0007917,GARD:0022524,GARD:0020551,GARD:0015864,Rare neurologic disease +GARD:0007917,GARD:0022531,GARD:0019229,GARD:0015866,Rare genetic disease +GARD:0007917,GARD:0022513,GARD:0019832,GARD:0015877,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022524,GARD:0011890,GARD:0015864,Rare neurologic disease +GARD:0007917,GARD:0022506,GARD:0011890,GARD:0015876,Rare hepatic disease +GARD:0007917,GARD:0022520,GARD:0019533,GARD:0015866,Rare ophthalmic disorder +GARD:0007917,GARD:0022524,GARD:0011890,GARD:0015861,Rare neurologic disease +GARD:0007917,GARD:0022520,GARD:0019533,GARD:0015876,Rare ophthalmic disorder +GARD:0007917,GARD:0022524,GARD:0019832,GARD:0015874,Rare neurologic disease +GARD:0007917,GARD:0022531,GARD:0022441,GARD:0015876,Rare genetic disease +GARD:0007917,GARD:0022513,GARD:0019900,GARD:0015864,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022520,GARD:0019533,GARD:0015877,Rare ophthalmic disorder +GARD:0007917,GARD:0022531,GARD:0011890,GARD:0015874,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0019229,GARD:0015869,Rare genetic disease +GARD:0007917,GARD:0022520,GARD:0019533,GARD:0015874,Rare ophthalmic disorder +GARD:0007917,GARD:0022531,GARD:0019900,GARD:0015859,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0019533,GARD:0015149,Rare genetic disease +GARD:0007917,GARD:0022508,GARD:0011890,GARD:0015859,Rare inborn errors of metabolism +GARD:0007917,GARD:0022524,GARD:0019832,GARD:0015877,Rare neurologic disease +GARD:0007917,GARD:0022524,GARD:0020551,GARD:0015877,Rare neurologic disease +GARD:0007917,GARD:0022531,GARD:0022441,GARD:0015858,Rare genetic disease +GARD:0007917,GARD:0022524,GARD:0020551,GARD:0015861,Rare neurologic disease +GARD:0007917,GARD:0022513,GARD:0019832,GARD:0015858,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022506,GARD:0011890,GARD:0015864,Rare hepatic disease +GARD:0007917,GARD:0022524,GARD:0011890,GARD:0015873,Rare neurologic disease +GARD:0007917,GARD:0022524,GARD:0020551,GARD:0015149,Rare neurologic disease +GARD:0007917,GARD:0022508,GARD:0011890,GARD:0015864,Rare inborn errors of metabolism +GARD:0007917,GARD:0022531,GARD:0019900,GARD:0015149,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0019533,GARD:0015869,Rare genetic disease +GARD:0007917,GARD:0022520,GARD:0011890,GARD:0015859,Rare ophthalmic disorder +GARD:0007917,GARD:0022508,GARD:0011890,GARD:0015873,Rare inborn errors of metabolism +GARD:0007917,GARD:0022524,GARD:0019832,GARD:0015149,Rare neurologic disease +GARD:0007917,GARD:0022524,GARD:0019832,GARD:0015864,Rare neurologic disease +GARD:0007917,GARD:0022513,GARD:0019900,GARD:0015869,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022508,GARD:0011890,GARD:0015877,Rare inborn errors of metabolism +GARD:0007917,GARD:0022520,GARD:0011890,GARD:0015866,Rare ophthalmic disorder +GARD:0007917,GARD:0022513,GARD:0019900,GARD:0015877,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022508,GARD:0011890,GARD:0015866,Rare inborn errors of metabolism +GARD:0007917,GARD:0022536,GARD:0022061,GARD:0015873,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007917,GARD:0022512,GARD:0019229,GARD:0015869,Rare renal disease +GARD:0007917,GARD:0022531,GARD:0019533,GARD:0015858,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0019229,GARD:0015149,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0022441,GARD:0015874,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0022441,GARD:0015866,Rare genetic disease +GARD:0007917,GARD:0022536,GARD:0022061,GARD:0015876,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007917,GARD:0022520,GARD:0019533,GARD:0015873,Rare ophthalmic disorder +GARD:0007917,GARD:0022524,GARD:0019832,GARD:0015876,Rare neurologic disease +GARD:0007917,GARD:0022508,GARD:0011890,GARD:0015858,Rare inborn errors of metabolism +GARD:0007917,GARD:0022531,GARD:0019229,GARD:0015864,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0020551,GARD:0015866,Rare genetic disease +GARD:0007917,GARD:0022524,GARD:0019832,GARD:0015861,Rare neurologic disease +GARD:0007917,GARD:0022531,GARD:0020551,GARD:0015149,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0019229,GARD:0015877,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0022441,GARD:0015861,Rare genetic disease +GARD:0007917,GARD:0022520,GARD:0011890,GARD:0015869,Rare ophthalmic disorder +GARD:0007917,GARD:0022531,GARD:0020551,GARD:0015876,Rare genetic disease +GARD:0007917,GARD:0022506,GARD:0011890,GARD:0015861,Rare hepatic disease +GARD:0007917,GARD:0022531,GARD:0019229,GARD:0015861,Rare genetic disease +GARD:0007917,GARD:0022513,GARD:0019900,GARD:0015149,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022536,GARD:0022061,GARD:0015861,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007917,GARD:0022536,GARD:0022061,GARD:0015877,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007917,GARD:0022506,GARD:0011890,GARD:0015873,Rare hepatic disease +GARD:0007917,GARD:0022531,GARD:0011890,GARD:0015858,Rare genetic disease +GARD:0007917,GARD:0022513,GARD:0019832,GARD:0015869,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022536,GARD:0022061,GARD:0015864,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007917,GARD:0022531,GARD:0019533,GARD:0015864,Rare genetic disease +GARD:0007917,GARD:0022512,GARD:0019229,GARD:0015149,Rare renal disease +GARD:0007917,GARD:0022520,GARD:0011890,GARD:0015877,Rare ophthalmic disorder +GARD:0007917,GARD:0022524,GARD:0011890,GARD:0015874,Rare neurologic disease +GARD:0007917,GARD:0022531,GARD:0022441,GARD:0015149,Rare genetic disease +GARD:0007917,GARD:0022513,GARD:0019900,GARD:0015861,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022520,GARD:0011890,GARD:0015876,Rare ophthalmic disorder +GARD:0007917,GARD:0022531,GARD:0020551,GARD:0015869,Rare genetic disease +GARD:0007917,GARD:0022524,GARD:0020551,GARD:0015874,Rare neurologic disease +GARD:0007917,GARD:0022531,GARD:0020551,GARD:0015874,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0020551,GARD:0015873,Rare genetic disease +GARD:0007917,GARD:0022512,GARD:0019229,GARD:0015859,Rare renal disease +GARD:0007917,GARD:0022508,GARD:0011890,GARD:0015874,Rare inborn errors of metabolism +GARD:0007917,GARD:0022513,GARD:0019832,GARD:0015864,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022531,GARD:0011890,GARD:0015873,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0011890,GARD:0015149,Rare genetic disease +GARD:0007917,GARD:0022536,GARD:0022061,GARD:0015859,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007917,GARD:0022531,GARD:0022441,GARD:0015873,Rare genetic disease +GARD:0007917,GARD:0022512,GARD:0019229,GARD:0015873,Rare renal disease +GARD:0007917,GARD:0022524,GARD:0019832,GARD:0015873,Rare neurologic disease +GARD:0007917,GARD:0022531,GARD:0019229,GARD:0015874,Rare genetic disease +GARD:0007917,GARD:0022520,GARD:0011890,GARD:0015858,Rare ophthalmic disorder +GARD:0007917,GARD:0022520,GARD:0019533,GARD:0015859,Rare ophthalmic disorder +GARD:0007917,GARD:0022531,GARD:0019900,GARD:0015858,Rare genetic disease +GARD:0007917,GARD:0022513,GARD:0019900,GARD:0015859,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022531,GARD:0019533,GARD:0015866,Rare genetic disease +GARD:0007917,GARD:0022506,GARD:0011890,GARD:0015869,Rare hepatic disease +GARD:0007917,GARD:0022520,GARD:0019533,GARD:0015858,Rare ophthalmic disorder +GARD:0007917,GARD:0022531,GARD:0019533,GARD:0015873,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0022441,GARD:0015864,Rare genetic disease +GARD:0007917,GARD:0022524,GARD:0011890,GARD:0015869,Rare neurologic disease +GARD:0007917,GARD:0022531,GARD:0019900,GARD:0015866,Rare genetic disease +GARD:0007917,GARD:0022513,GARD:0019832,GARD:0015873,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022513,GARD:0019900,GARD:0015866,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022531,GARD:0020551,GARD:0015861,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0019533,GARD:0015859,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0019900,GARD:0015876,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0019900,GARD:0015873,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0020551,GARD:0015859,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0022441,GARD:0015877,Rare genetic disease +GARD:0007917,GARD:0022512,GARD:0019229,GARD:0015866,Rare renal disease +GARD:0007917,GARD:0022508,GARD:0011890,GARD:0015876,Rare inborn errors of metabolism +GARD:0007917,GARD:0022520,GARD:0011890,GARD:0015149,Rare ophthalmic disorder +GARD:0007917,GARD:0022524,GARD:0011890,GARD:0015876,Rare neurologic disease +GARD:0007917,GARD:0022524,GARD:0011890,GARD:0015859,Rare neurologic disease +GARD:0007917,GARD:0022513,GARD:0019832,GARD:0015866,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022520,GARD:0019533,GARD:0015861,Rare ophthalmic disorder +GARD:0007917,GARD:0022536,GARD:0022061,GARD:0015149,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007917,GARD:0022531,GARD:0011890,GARD:0015876,Rare genetic disease +GARD:0007917,GARD:0022536,GARD:0022061,GARD:0015874,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007917,GARD:0022512,GARD:0019229,GARD:0015858,Rare renal disease +GARD:0007917,GARD:0022531,GARD:0019533,GARD:0015874,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0022441,GARD:0015869,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0011890,GARD:0015877,Rare genetic disease +GARD:0007917,GARD:0022508,GARD:0011890,GARD:0015149,Rare inborn errors of metabolism +GARD:0007917,GARD:0022531,GARD:0019229,GARD:0015876,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0019229,GARD:0015859,Rare genetic disease +GARD:0007917,GARD:0022513,GARD:0019832,GARD:0015876,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022506,GARD:0011890,GARD:0015866,Rare hepatic disease +GARD:0007917,GARD:0022506,GARD:0011890,GARD:0015877,Rare hepatic disease +GARD:0007917,GARD:0022531,GARD:0011890,GARD:0015864,Rare genetic disease +GARD:0007917,GARD:0022524,GARD:0019832,GARD:0015858,Rare neurologic disease +GARD:0007917,GARD:0022536,GARD:0022061,GARD:0015869,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007917,GARD:0022513,GARD:0019832,GARD:0015149,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022531,GARD:0019229,GARD:0015873,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0019900,GARD:0015869,Rare genetic disease +GARD:0007917,GARD:0022513,GARD:0019832,GARD:0015859,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022508,GARD:0011890,GARD:0015861,Rare inborn errors of metabolism +GARD:0007917,GARD:0022531,GARD:0011890,GARD:0015859,Rare genetic disease +GARD:0007917,GARD:0022536,GARD:0022061,GARD:0015858,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007917,GARD:0022531,GARD:0020551,GARD:0015877,Rare genetic disease +GARD:0007917,GARD:0022506,GARD:0011890,GARD:0015858,Rare hepatic disease +GARD:0007917,GARD:0022520,GARD:0019533,GARD:0015869,Rare ophthalmic disorder +GARD:0007917,GARD:0022524,GARD:0019832,GARD:0015859,Rare neurologic disease +GARD:0007917,GARD:0022512,GARD:0019229,GARD:0015877,Rare renal disease +GARD:0007917,GARD:0022524,GARD:0019832,GARD:0015866,Rare neurologic disease +GARD:0007917,GARD:0022531,GARD:0011890,GARD:0015861,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0019229,GARD:0015858,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0022441,GARD:0015859,Rare genetic disease +GARD:0007917,GARD:0022512,GARD:0019229,GARD:0015876,Rare renal disease +GARD:0007917,GARD:0022513,GARD:0019832,GARD:0015874,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022513,GARD:0019900,GARD:0015874,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022524,GARD:0020551,GARD:0015866,Rare neurologic disease +GARD:0007917,GARD:0022524,GARD:0020551,GARD:0015876,Rare neurologic disease +GARD:0007917,GARD:0022531,GARD:0011890,GARD:0015869,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0019533,GARD:0015876,Rare genetic disease +GARD:0007917,GARD:0022506,GARD:0011890,GARD:0015859,Rare hepatic disease +GARD:0007917,GARD:0022520,GARD:0019533,GARD:0015149,Rare ophthalmic disorder +GARD:0007917,GARD:0022524,GARD:0020551,GARD:0015869,Rare neurologic disease +GARD:0007917,GARD:0022513,GARD:0019832,GARD:0015861,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022512,GARD:0019229,GARD:0015874,Rare renal disease +GARD:0007917,GARD:0022512,GARD:0019229,GARD:0015861,Rare renal disease +GARD:0007917,GARD:0022524,GARD:0019832,GARD:0015869,Rare neurologic disease +GARD:0007917,GARD:0022508,GARD:0011890,GARD:0015869,Rare inborn errors of metabolism +GARD:0007917,GARD:0022513,GARD:0019900,GARD:0015873,Rare developmental defect during embryogenesis +GARD:0007917,GARD:0022524,GARD:0020551,GARD:0015858,Rare neurologic disease +GARD:0007917,GARD:0022524,GARD:0011890,GARD:0015866,Rare neurologic disease +GARD:0007917,GARD:0022524,GARD:0011890,GARD:0015149,Rare neurologic disease +GARD:0007917,GARD:0022531,GARD:0019533,GARD:0015861,Rare genetic disease +GARD:0007917,GARD:0022531,GARD:0019900,GARD:0015861,Rare genetic disease +GARD:0007917,GARD:0022536,GARD:0022061,GARD:0015866,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007917,GARD:0022520,GARD:0019533,GARD:0015864,Rare ophthalmic disorder +GARD:0007917,GARD:0022524,GARD:0011890,GARD:0015858,Rare neurologic disease +GARD:0007917,GARD:0022531,GARD:0020551,GARD:0015864,Rare genetic disease +GARD:0007917,GARD:0022506,GARD:0011890,GARD:0015874,Rare hepatic disease +GARD:0007918,GARD:0022516,GARD:0019751,,Rare gastroenterologic disease +GARD:0007918,GARD:0022521,GARD:0019751,,Rare endocrine disease +GARD:0007918,GARD:0022516,GARD:0022053,,Rare gastroenterologic disease +GARD:0007918,GARD:0022535,GARD:0022053,,Rare neoplastic disease +GARD:0007918,GARD:0022521,GARD:0022053,,Rare endocrine disease +GARD:0007918,GARD:0022535,GARD:0019751,,Rare neoplastic disease +GARD:0007918,GARD:0022536,GARD:0019751,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0007922,GARD:0022524,GARD:0020358,GARD:0009138,Rare neurologic disease +GARD:0007922,GARD:0022531,GARD:0020358,GARD:0009138,Rare genetic disease +GARD:0007922,GARD:0022524,GARD:0020358,GARD:0020360,Rare neurologic disease +GARD:0007922,GARD:0022531,GARD:0020358,GARD:0020360,Rare genetic disease +GARD:0008169,GARD:0022525,GARD:0022391,,Rare systemic or rheumatologic disease +GARD:0008169,GARD:0022534,GARD:0022534,,Rare abdominal surgical disease +GARD:0008173,GARD:0022511,GARD:0021569,,Rare bone disease +GARD:0008173,GARD:0022531,GARD:0019185,,Rare genetic disease +GARD:0008173,GARD:0022531,GARD:0021569,,Rare genetic disease +GARD:0008173,GARD:0022513,GARD:0021569,,Rare developmental defect during embryogenesis +GARD:0008174,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0008174,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0008178,GARD:0022531,GARD:0005597,,Rare genetic disease +GARD:0008178,GARD:0022531,GARD:0009170,,Rare genetic disease +GARD:0008178,GARD:0022510,GARD:0009170,,Rare skin disease +GARD:0008178,GARD:0022510,GARD:0005597,,Rare skin disease +GARD:0008182,GARD:0022513,GARD:0019212,GARD:0015942,Rare developmental defect during embryogenesis +GARD:0008182,GARD:0022531,GARD:0019212,GARD:0015942,Rare genetic disease +GARD:0008182,GARD:0022511,GARD:0019212,GARD:0015942,Rare bone disease +GARD:0008189,GARD:0022513,GARD:0019551,GARD:0004588,Rare developmental defect during embryogenesis +GARD:0008189,GARD:0022519,GARD:0019551,GARD:0004588,Rare surgical cardiac disease +GARD:0008189,GARD:0022519,GARD:0019551,GARD:0004597,Rare surgical cardiac disease +GARD:0008189,GARD:0022513,GARD:0019551,GARD:0018717,Rare developmental defect during embryogenesis +GARD:0008189,GARD:0022519,GARD:0019551,GARD:0016627,Rare surgical cardiac disease +GARD:0008189,GARD:0022513,GARD:0019551,GARD:0004597,Rare developmental defect during embryogenesis +GARD:0008189,GARD:0022513,GARD:0019551,GARD:0000738,Rare developmental defect during embryogenesis +GARD:0008189,GARD:0022519,GARD:0019551,GARD:0000738,Rare surgical cardiac disease +GARD:0008189,GARD:0022519,GARD:0019551,GARD:0018717,Rare surgical cardiac disease +GARD:0008189,GARD:0022513,GARD:0019551,GARD:0016627,Rare developmental defect during embryogenesis +GARD:0008189,GARD:0022513,GARD:0019551,GARD:0002245,Rare developmental defect during embryogenesis +GARD:0008189,GARD:0022513,GARD:0019551,GARD:0001907,Rare developmental defect during embryogenesis +GARD:0008189,GARD:0022519,GARD:0019551,GARD:0002245,Rare surgical cardiac disease +GARD:0008189,GARD:0022519,GARD:0019551,GARD:0001907,Rare surgical cardiac disease +GARD:0008189,GARD:0022519,GARD:0019551,GARD:0001908,Rare surgical cardiac disease +GARD:0008189,GARD:0022513,GARD:0019551,GARD:0001908,Rare developmental defect during embryogenesis +GARD:0008194,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0008195,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0008197,GARD:0022531,GARD:0020817,,Rare genetic disease +GARD:0008197,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0008197,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0008197,GARD:0022513,GARD:0020817,,Rare developmental defect during embryogenesis +GARD:0008197,GARD:0022524,GARD:0010248,,Rare neurologic disease +GARD:0008197,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0008197,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0008197,GARD:0022531,GARD:0010248,,Rare genetic disease +GARD:0008197,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0008197,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0008198,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008198,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0008198,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0008204,GARD:0021079,GARD:0021081,,Rare systemic or rheumatological disease of childhood +GARD:0008204,GARD:0022536,GARD:0022292,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008204,GARD:0022536,GARD:0020928,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008204,GARD:0022517,GARD:0020928,,Rare respiratory disease +GARD:0008204,GARD:0022527,GARD:0019984,,Rare circulatory system disease +GARD:0008204,GARD:0022525,GARD:0019984,,Rare systemic or rheumatologic disease +GARD:0008204,GARD:0022512,GARD:0022292,,Rare renal disease +GARD:0008206,GARD:0022513,GARD:0002865,,Rare developmental defect during embryogenesis +GARD:0008206,GARD:0022510,GARD:0002865,,Rare skin disease +GARD:0008206,GARD:0022531,GARD:0002865,,Rare genetic disease +GARD:0008207,GARD:0022524,GARD:0020724,,Rare neurologic disease +GARD:0008207,GARD:0022535,GARD:0020724,,Rare neoplastic disease +GARD:0008208,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0008208,GARD:0022524,GARD:0019386,,Rare neurologic disease +GARD:0008214,GARD:0022524,GARD:0007140,,Rare neurologic disease +GARD:0008214,GARD:0022531,GARD:0007140,,Rare genetic disease +GARD:0008216,GARD:0022509,GARD:0018757,,Rare infectious disease +GARD:0008223,GARD:0022535,GARD:0021245,,Rare neoplastic disease +GARD:0008223,GARD:0022522,GARD:0021245,,Rare hematologic disease +GARD:0008223,GARD:0022536,GARD:0021245,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008225,GARD:0022522,GARD:0009351,,Rare hematologic disease +GARD:0008225,GARD:0022536,GARD:0009351,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008225,GARD:0022535,GARD:0009351,,Rare neoplastic disease +GARD:0008231,GARD:0022525,GARD:0020255,GARD:0007588,Rare systemic or rheumatologic disease +GARD:0008231,GARD:0022525,GARD:0020255,GARD:0020019,Rare systemic or rheumatologic disease +GARD:0008231,GARD:0022525,GARD:0020255,GARD:0020022,Rare systemic or rheumatologic disease +GARD:0008231,GARD:0022510,GARD:0021160,GARD:0006369,Rare skin disease +GARD:0008231,GARD:0022525,GARD:0020255,GARD:0007103,Rare systemic or rheumatologic disease +GARD:0008231,GARD:0022525,GARD:0020255,GARD:0010951,Rare systemic or rheumatologic disease +GARD:0008231,GARD:0022510,GARD:0021160,GARD:0010951,Rare skin disease +GARD:0008231,GARD:0022510,GARD:0021160,GARD:0020023,Rare skin disease +GARD:0008231,GARD:0022510,GARD:0021160,GARD:0020021,Rare skin disease +GARD:0008231,GARD:0022510,GARD:0021160,GARD:0020022,Rare skin disease +GARD:0008231,GARD:0022525,GARD:0020255,GARD:0020021,Rare systemic or rheumatologic disease +GARD:0008231,GARD:0022525,GARD:0020255,GARD:0020023,Rare systemic or rheumatologic disease +GARD:0008231,GARD:0022510,GARD:0021160,GARD:0007588,Rare skin disease +GARD:0008231,GARD:0022525,GARD:0020255,GARD:0013186,Rare systemic or rheumatologic disease +GARD:0008231,GARD:0022510,GARD:0021160,GARD:0016989,Rare skin disease +GARD:0008231,GARD:0022510,GARD:0021160,GARD:0020019,Rare skin disease +GARD:0008231,GARD:0022510,GARD:0021160,GARD:0007103,Rare skin disease +GARD:0008231,GARD:0022525,GARD:0020255,GARD:0006369,Rare systemic or rheumatologic disease +GARD:0008231,GARD:0022525,GARD:0020255,GARD:0020020,Rare systemic or rheumatologic disease +GARD:0008231,GARD:0022525,GARD:0020255,GARD:0016989,Rare systemic or rheumatologic disease +GARD:0008231,GARD:0022510,GARD:0021160,GARD:0020018,Rare skin disease +GARD:0008231,GARD:0022510,GARD:0021160,GARD:0020020,Rare skin disease +GARD:0008231,GARD:0022525,GARD:0020255,GARD:0020018,Rare systemic or rheumatologic disease +GARD:0008231,GARD:0022510,GARD:0021160,GARD:0013186,Rare skin disease +GARD:0008232,GARD:0022535,GARD:0019406,,Rare neoplastic disease +GARD:0008232,GARD:0022524,GARD:0019406,,Rare neurologic disease +GARD:0008233,GARD:0022531,GARD:0007672,GARD:0002441,Rare genetic disease +GARD:0008233,GARD:0022536,GARD:0007672,GARD:0012504,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008233,GARD:0022508,GARD:0007672,GARD:0002442,Rare inborn errors of metabolism +GARD:0008233,GARD:0022536,GARD:0007672,GARD:0002442,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008233,GARD:0022536,GARD:0007672,GARD:0012503,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008233,GARD:0022531,GARD:0007672,GARD:0012503,Rare genetic disease +GARD:0008233,GARD:0022536,GARD:0007672,GARD:0002441,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008233,GARD:0022531,GARD:0007672,GARD:0010675,Rare genetic disease +GARD:0008233,GARD:0022508,GARD:0007672,GARD:0010675,Rare inborn errors of metabolism +GARD:0008233,GARD:0022531,GARD:0007672,GARD:0002443,Rare genetic disease +GARD:0008233,GARD:0022536,GARD:0007672,GARD:0002443,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008233,GARD:0022531,GARD:0007672,GARD:0002442,Rare genetic disease +GARD:0008233,GARD:0022508,GARD:0007672,GARD:0002441,Rare inborn errors of metabolism +GARD:0008233,GARD:0022508,GARD:0007672,GARD:0012503,Rare inborn errors of metabolism +GARD:0008233,GARD:0022508,GARD:0007672,GARD:0002443,Rare inborn errors of metabolism +GARD:0008233,GARD:0022508,GARD:0007672,GARD:0012504,Rare inborn errors of metabolism +GARD:0008233,GARD:0022531,GARD:0007672,GARD:0012504,Rare genetic disease +GARD:0008233,GARD:0022536,GARD:0007672,GARD:0010675,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008234,GARD:0022525,GARD:0020257,,Rare systemic or rheumatologic disease +GARD:0008234,GARD:0022523,GARD:0020167,,Rare immune disease +GARD:0008238,GARD:0022524,GARD:0020722,,Rare neurologic disease +GARD:0008238,GARD:0022535,GARD:0020722,,Rare neoplastic disease +GARD:0008240,GARD:0022530,GARD:0016924,,Rare allergic disease +GARD:0008240,GARD:0022536,GARD:0016924,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008240,GARD:0022517,GARD:0016924,,Rare respiratory disease +GARD:0008241,GARD:0022531,GARD:0022531,,Rare genetic disease +GARD:0008249,GARD:0022536,GARD:0007132,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008249,GARD:0022522,GARD:0018714,,Rare hematologic disease +GARD:0008249,GARD:0022535,GARD:0007132,,Rare neoplastic disease +GARD:0008249,GARD:0022522,GARD:0007132,,Rare hematologic disease +GARD:0008254,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0008257,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0008259,GARD:0022516,GARD:0019786,,Rare gastroenterologic disease +GARD:0008259,GARD:0022522,GARD:0020670,,Rare hematologic disease +GARD:0008270,GARD:0022521,GARD:0020137,,Rare endocrine disease +GARD:0008270,GARD:0022531,GARD:0020137,,Rare genetic disease +GARD:0008275,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0008275,GARD:0022531,GARD:0018991,,Rare genetic disease +GARD:0008282,GARD:0022525,GARD:0018676,GARD:0019226,Rare systemic or rheumatologic disease +GARD:0008282,GARD:0022512,GARD:0022290,GARD:0020631,Rare renal disease +GARD:0008282,GARD:0022536,GARD:0018676,GARD:0019225,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008282,GARD:0022531,GARD:0022290,GARD:0019224,Rare genetic disease +GARD:0008282,GARD:0022531,GARD:0022290,GARD:0020631,Rare genetic disease +GARD:0008282,GARD:0022531,GARD:0006611,GARD:0019225,Rare genetic disease +GARD:0008282,GARD:0022536,GARD:0018676,GARD:0019226,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008282,GARD:0022525,GARD:0018676,GARD:0019224,Rare systemic or rheumatologic disease +GARD:0008282,GARD:0022536,GARD:0022290,GARD:0019225,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008282,GARD:0022512,GARD:0022290,GARD:0019226,Rare renal disease +GARD:0008282,GARD:0022531,GARD:0006611,GARD:0019224,Rare genetic disease +GARD:0008282,GARD:0022536,GARD:0022290,GARD:0019224,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008282,GARD:0022536,GARD:0022290,GARD:0020631,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008282,GARD:0022531,GARD:0022290,GARD:0019225,Rare genetic disease +GARD:0008282,GARD:0022531,GARD:0006611,GARD:0020631,Rare genetic disease +GARD:0008282,GARD:0022531,GARD:0006611,GARD:0019226,Rare genetic disease +GARD:0008282,GARD:0022512,GARD:0022290,GARD:0019225,Rare renal disease +GARD:0008282,GARD:0022512,GARD:0022290,GARD:0019224,Rare renal disease +GARD:0008282,GARD:0022536,GARD:0018676,GARD:0020631,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008282,GARD:0022536,GARD:0022290,GARD:0019226,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008282,GARD:0022525,GARD:0018676,GARD:0019225,Rare systemic or rheumatologic disease +GARD:0008282,GARD:0022525,GARD:0018676,GARD:0020631,Rare systemic or rheumatologic disease +GARD:0008282,GARD:0022536,GARD:0018676,GARD:0019224,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008282,GARD:0022531,GARD:0022290,GARD:0019226,Rare genetic disease +GARD:0008283,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0008283,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0008283,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0008283,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0008283,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0008283,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0008283,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0008283,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008283,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0008295,GARD:0022531,GARD:0020766,GARD:0015912,Rare genetic disease +GARD:0008295,GARD:0022531,GARD:0020766,GARD:0015910,Rare genetic disease +GARD:0008295,GARD:0022531,GARD:0020766,GARD:0015970,Rare genetic disease +GARD:0008295,GARD:0022531,GARD:0020766,GARD:0016018,Rare genetic disease +GARD:0008295,GARD:0022508,GARD:0020766,GARD:0016377,Rare inborn errors of metabolism +GARD:0008295,GARD:0022531,GARD:0020766,GARD:0015056,Rare genetic disease +GARD:0008295,GARD:0022508,GARD:0020766,GARD:0015913,Rare inborn errors of metabolism +GARD:0008295,GARD:0022531,GARD:0020766,GARD:0016060,Rare genetic disease +GARD:0008295,GARD:0022508,GARD:0020766,GARD:0015912,Rare inborn errors of metabolism +GARD:0008295,GARD:0022531,GARD:0020766,GARD:0016015,Rare genetic disease +GARD:0008295,GARD:0022531,GARD:0020766,GARD:0016377,Rare genetic disease +GARD:0008295,GARD:0022531,GARD:0020766,GARD:0015911,Rare genetic disease +GARD:0008295,GARD:0022508,GARD:0020766,GARD:0015970,Rare inborn errors of metabolism +GARD:0008295,GARD:0022508,GARD:0020766,GARD:0015911,Rare inborn errors of metabolism +GARD:0008295,GARD:0022508,GARD:0020766,GARD:0016015,Rare inborn errors of metabolism +GARD:0008295,GARD:0022508,GARD:0020766,GARD:0016060,Rare inborn errors of metabolism +GARD:0008295,GARD:0022508,GARD:0020766,GARD:0015056,Rare inborn errors of metabolism +GARD:0008295,GARD:0022508,GARD:0020766,GARD:0015910,Rare inborn errors of metabolism +GARD:0008295,GARD:0022531,GARD:0020766,GARD:0015913,Rare genetic disease +GARD:0008295,GARD:0022508,GARD:0020766,GARD:0016018,Rare inborn errors of metabolism +GARD:0008309,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0008309,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0008309,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0008310,GARD:0022531,GARD:0019531,GARD:0022362,Rare genetic disease +GARD:0008310,GARD:0022531,GARD:0010419,GARD:0022365,Rare genetic disease +GARD:0008310,GARD:0022531,GARD:0019507,GARD:0022364,Rare genetic disease +GARD:0008310,GARD:0022531,GARD:0019531,GARD:0022361,Rare genetic disease +GARD:0008310,GARD:0022536,GARD:0020523,GARD:0022365,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008310,GARD:0022513,GARD:0019507,GARD:0022363,Rare developmental defect during embryogenesis +GARD:0008310,GARD:0022531,GARD:0019531,GARD:0022364,Rare genetic disease +GARD:0008310,GARD:0022531,GARD:0022158,GARD:0022362,Rare genetic disease +GARD:0008310,GARD:0022513,GARD:0019507,GARD:0022364,Rare developmental defect during embryogenesis +GARD:0008310,GARD:0022536,GARD:0020523,GARD:0022363,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008310,GARD:0022520,GARD:0022118,GARD:0022363,Rare ophthalmic disorder +GARD:0008310,GARD:0022531,GARD:0019507,GARD:0022362,Rare genetic disease +GARD:0008310,GARD:0022524,GARD:0019389,GARD:0022363,Rare neurologic disease +GARD:0008310,GARD:0022531,GARD:0010419,GARD:0022363,Rare genetic disease +GARD:0008310,GARD:0022536,GARD:0020523,GARD:0022364,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008310,GARD:0022520,GARD:0019531,GARD:0022361,Rare ophthalmic disorder +GARD:0008310,GARD:0022524,GARD:0010419,GARD:0022364,Rare neurologic disease +GARD:0008310,GARD:0022520,GARD:0019507,GARD:0022363,Rare ophthalmic disorder +GARD:0008310,GARD:0022520,GARD:0019531,GARD:0022365,Rare ophthalmic disorder +GARD:0008310,GARD:0022524,GARD:0019389,GARD:0022362,Rare neurologic disease +GARD:0008310,GARD:0022513,GARD:0019507,GARD:0022362,Rare developmental defect during embryogenesis +GARD:0008310,GARD:0022524,GARD:0019389,GARD:0022364,Rare neurologic disease +GARD:0008310,GARD:0022531,GARD:0010419,GARD:0022362,Rare genetic disease +GARD:0008310,GARD:0022524,GARD:0019389,GARD:0022365,Rare neurologic disease +GARD:0008310,GARD:0022520,GARD:0019507,GARD:0022365,Rare ophthalmic disorder +GARD:0008310,GARD:0022531,GARD:0019507,GARD:0022363,Rare genetic disease +GARD:0008310,GARD:0022531,GARD:0022158,GARD:0022361,Rare genetic disease +GARD:0008310,GARD:0022531,GARD:0010419,GARD:0022361,Rare genetic disease +GARD:0008310,GARD:0022531,GARD:0020523,GARD:0022362,Rare genetic disease +GARD:0008310,GARD:0022531,GARD:0020523,GARD:0022364,Rare genetic disease +GARD:0008310,GARD:0022515,GARD:0020523,GARD:0022365,Rare cardiac disease +GARD:0008310,GARD:0022536,GARD:0020523,GARD:0022361,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008310,GARD:0022531,GARD:0022158,GARD:0022364,Rare genetic disease +GARD:0008310,GARD:0022531,GARD:0019531,GARD:0022363,Rare genetic disease +GARD:0008310,GARD:0022531,GARD:0010419,GARD:0022364,Rare genetic disease +GARD:0008310,GARD:0022524,GARD:0010419,GARD:0022361,Rare neurologic disease +GARD:0008310,GARD:0022520,GARD:0019531,GARD:0022364,Rare ophthalmic disorder +GARD:0008310,GARD:0022515,GARD:0020523,GARD:0022364,Rare cardiac disease +GARD:0008310,GARD:0022531,GARD:0022158,GARD:0022365,Rare genetic disease +GARD:0008310,GARD:0022515,GARD:0020523,GARD:0022361,Rare cardiac disease +GARD:0008310,GARD:0022524,GARD:0010419,GARD:0022362,Rare neurologic disease +GARD:0008310,GARD:0022524,GARD:0010419,GARD:0022363,Rare neurologic disease +GARD:0008310,GARD:0022524,GARD:0010419,GARD:0022365,Rare neurologic disease +GARD:0008310,GARD:0022520,GARD:0019507,GARD:0022364,Rare ophthalmic disorder +GARD:0008310,GARD:0022531,GARD:0022158,GARD:0022363,Rare genetic disease +GARD:0008310,GARD:0022520,GARD:0022118,GARD:0022365,Rare ophthalmic disorder +GARD:0008310,GARD:0022531,GARD:0020523,GARD:0022361,Rare genetic disease +GARD:0008310,GARD:0022520,GARD:0019531,GARD:0022363,Rare ophthalmic disorder +GARD:0008310,GARD:0022520,GARD:0022118,GARD:0022364,Rare ophthalmic disorder +GARD:0008310,GARD:0022515,GARD:0020523,GARD:0022363,Rare cardiac disease +GARD:0008310,GARD:0022513,GARD:0019507,GARD:0022365,Rare developmental defect during embryogenesis +GARD:0008310,GARD:0022520,GARD:0019507,GARD:0022362,Rare ophthalmic disorder +GARD:0008310,GARD:0022520,GARD:0019531,GARD:0022362,Rare ophthalmic disorder +GARD:0008310,GARD:0022531,GARD:0020523,GARD:0022363,Rare genetic disease +GARD:0008310,GARD:0022520,GARD:0022118,GARD:0022361,Rare ophthalmic disorder +GARD:0008310,GARD:0022531,GARD:0019507,GARD:0022365,Rare genetic disease +GARD:0008310,GARD:0022536,GARD:0020523,GARD:0022362,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008310,GARD:0022531,GARD:0019531,GARD:0022365,Rare genetic disease +GARD:0008310,GARD:0022524,GARD:0019389,GARD:0022361,Rare neurologic disease +GARD:0008310,GARD:0022531,GARD:0019507,GARD:0022361,Rare genetic disease +GARD:0008310,GARD:0022513,GARD:0019507,GARD:0022361,Rare developmental defect during embryogenesis +GARD:0008310,GARD:0022520,GARD:0022118,GARD:0022362,Rare ophthalmic disorder +GARD:0008310,GARD:0022520,GARD:0019507,GARD:0022361,Rare ophthalmic disorder +GARD:0008310,GARD:0022531,GARD:0020523,GARD:0022365,Rare genetic disease +GARD:0008310,GARD:0022515,GARD:0020523,GARD:0022362,Rare cardiac disease +GARD:0008312,GARD:0022531,GARD:0021020,,Rare genetic disease +GARD:0008312,GARD:0022522,GARD:0021020,,Rare hematologic disease +GARD:0008317,GARD:0022535,GARD:0019441,GARD:0006858,Rare neoplastic disease +GARD:0008317,GARD:0022522,GARD:0019441,GARD:0020022,Rare hematologic disease +GARD:0008317,GARD:0022536,GARD:0019441,GARD:0019082,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008317,GARD:0022522,GARD:0019441,GARD:0019082,Rare hematologic disease +GARD:0008317,GARD:0022535,GARD:0019441,GARD:0019082,Rare neoplastic disease +GARD:0008317,GARD:0022535,GARD:0019441,GARD:0010491,Rare neoplastic disease +GARD:0008317,GARD:0022522,GARD:0019441,GARD:0006858,Rare hematologic disease +GARD:0008317,GARD:0022536,GARD:0019441,GARD:0016765,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008317,GARD:0022535,GARD:0019441,GARD:0016765,Rare neoplastic disease +GARD:0008317,GARD:0022535,GARD:0019441,GARD:0020022,Rare neoplastic disease +GARD:0008317,GARD:0022536,GARD:0019441,GARD:0006858,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008317,GARD:0022522,GARD:0019441,GARD:0010491,Rare hematologic disease +GARD:0008317,GARD:0022522,GARD:0019441,GARD:0016765,Rare hematologic disease +GARD:0008317,GARD:0022536,GARD:0019441,GARD:0010491,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008317,GARD:0022536,GARD:0019441,GARD:0020022,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008329,GARD:0022513,GARD:0019898,,Rare developmental defect during embryogenesis +GARD:0008329,GARD:0022531,GARD:0019898,,Rare genetic disease +GARD:0008329,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0008329,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0008329,GARD:0022507,GARD:0019898,,Rare maxillo-facial surgical disease +GARD:0008329,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0008329,GARD:0022531,GARD:0019188,,Rare genetic disease +GARD:0008329,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0008329,GARD:0022528,GARD:0019898,,Rare otorhinolaryngologic disease +GARD:0008329,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0008329,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0008331,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0008331,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0008331,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0008331,GARD:0022508,GARD:0020763,,Rare inborn errors of metabolism +GARD:0008331,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0008331,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0008331,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0008331,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0008331,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0008331,GARD:0022531,GARD:0020763,,Rare genetic disease +GARD:0008331,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0008333,GARD:0022531,GARD:0018915,,Rare genetic disease +GARD:0008333,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0008333,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0008333,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0008333,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0008334,GARD:0022531,GARD:0021122,,Rare genetic disease +GARD:0008334,GARD:0022531,GARD:0021901,,Rare genetic disease +GARD:0008334,GARD:0022524,GARD:0012033,,Rare neurologic disease +GARD:0008334,GARD:0022531,GARD:0012033,,Rare genetic disease +GARD:0008334,GARD:0022524,GARD:0021901,,Rare neurologic disease +GARD:0008337,GARD:0022517,GARD:0022517,,Rare respiratory disease +GARD:0008337,GARD:0022525,GARD:0022391,,Rare systemic or rheumatologic disease +GARD:0008338,GARD:0022513,GARD:0021913,,Rare developmental defect during embryogenesis +GARD:0008338,GARD:0022524,GARD:0021965,,Rare neurologic disease +GARD:0008338,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0008338,GARD:0022535,GARD:0021913,,Rare neoplastic disease +GARD:0008338,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0008338,GARD:0022531,GARD:0021923,,Rare genetic disease +GARD:0008338,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0008338,GARD:0022531,GARD:0021965,,Rare genetic disease +GARD:0008338,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0008338,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0008338,GARD:0022531,GARD:0021614,,Rare genetic disease +GARD:0008338,GARD:0022524,GARD:0019819,,Rare neurologic disease +GARD:0008338,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0008338,GARD:0022527,GARD:0021913,,Rare circulatory system disease +GARD:0008338,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0008338,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0008338,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0008341,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0008341,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0008341,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0008341,GARD:0022520,GARD:0019504,,Rare ophthalmic disorder +GARD:0008341,GARD:0022524,GARD:0020385,,Rare neurologic disease +GARD:0008341,GARD:0022513,GARD:0019504,,Rare developmental defect during embryogenesis +GARD:0008341,GARD:0022531,GARD:0020385,,Rare genetic disease +GARD:0008341,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0008341,GARD:0022531,GARD:0019415,,Rare genetic disease +GARD:0008341,GARD:0022531,GARD:0019504,,Rare genetic disease +GARD:0008341,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0008341,GARD:0022524,GARD:0019415,,Rare neurologic disease +GARD:0008341,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0008343,GARD:0022531,GARD:0018685,,Rare genetic disease +GARD:0008343,GARD:0022511,GARD:0018685,,Rare bone disease +GARD:0008343,GARD:0022513,GARD:0018685,,Rare developmental defect during embryogenesis +GARD:0008344,GARD:0022524,GARD:0017741,,Rare neurologic disease +GARD:0008344,GARD:0022531,GARD:0017741,,Rare genetic disease +GARD:0008344,GARD:0022525,GARD:0017741,,Rare systemic or rheumatologic disease +GARD:0008344,GARD:0022536,GARD:0017741,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008345,GARD:0022522,GARD:0019469,,Rare hematologic disease +GARD:0008345,GARD:0022531,GARD:0019469,,Rare genetic disease +GARD:0008349,GARD:0022526,GARD:0005791,GARD:0016211,Rare odontologic disease +GARD:0008349,GARD:0022526,GARD:0005791,GARD:0015563,Rare odontologic disease +GARD:0008349,GARD:0022531,GARD:0005791,GARD:0016211,Rare genetic disease +GARD:0008349,GARD:0022526,GARD:0005791,GARD:0015630,Rare odontologic disease +GARD:0008349,GARD:0022526,GARD:0005791,GARD:0009943,Rare odontologic disease +GARD:0008349,GARD:0022531,GARD:0005791,GARD:0009943,Rare genetic disease +GARD:0008349,GARD:0022531,GARD:0005791,GARD:0009495,Rare genetic disease +GARD:0008349,GARD:0022526,GARD:0005791,GARD:0009495,Rare odontologic disease +GARD:0008349,GARD:0022526,GARD:0005791,GARD:0016028,Rare odontologic disease +GARD:0008349,GARD:0022531,GARD:0005791,GARD:0015847,Rare genetic disease +GARD:0008349,GARD:0022531,GARD:0005791,GARD:0015630,Rare genetic disease +GARD:0008349,GARD:0022531,GARD:0005791,GARD:0015563,Rare genetic disease +GARD:0008349,GARD:0022531,GARD:0005791,GARD:0016028,Rare genetic disease +GARD:0008349,GARD:0022526,GARD:0005791,GARD:0015847,Rare odontologic disease +GARD:0008360,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0008360,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0008360,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0008360,GARD:0022513,GARD:0020912,,Rare developmental defect during embryogenesis +GARD:0008360,GARD:0022531,GARD:0020912,,Rare genetic disease +GARD:0008360,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0008367,GARD:0022531,GARD:0016594,,Rare genetic disease +GARD:0008367,GARD:0022521,GARD:0016594,,Rare endocrine disease +GARD:0008367,GARD:0022511,GARD:0016594,,Rare bone disease +GARD:0008367,GARD:0022513,GARD:0016594,,Rare developmental defect during embryogenesis +GARD:0008370,GARD:0022520,GARD:0006877,GARD:0015159,Rare ophthalmic disorder +GARD:0008370,GARD:0022508,GARD:0006877,GARD:0016418,Rare inborn errors of metabolism +GARD:0008370,GARD:0022524,GARD:0006877,GARD:0015159,Rare neurologic disease +GARD:0008370,GARD:0022520,GARD:0006877,GARD:0016418,Rare ophthalmic disorder +GARD:0008370,GARD:0022508,GARD:0006877,GARD:0015159,Rare inborn errors of metabolism +GARD:0008370,GARD:0022531,GARD:0006877,GARD:0016418,Rare genetic disease +GARD:0008370,GARD:0022524,GARD:0006877,GARD:0016418,Rare neurologic disease +GARD:0008370,GARD:0022531,GARD:0006877,GARD:0015159,Rare genetic disease +GARD:0008378,GARD:0022531,GARD:0021689,GARD:0016242,Rare genetic disease +GARD:0008378,GARD:0022529,GARD:0021677,GARD:0016242,Rare infertility +GARD:0008378,GARD:0022536,GARD:0022061,GARD:0006168,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008378,GARD:0022512,GARD:0019228,GARD:0006168,Rare renal disease +GARD:0008378,GARD:0022531,GARD:0019228,GARD:0006168,Rare genetic disease +GARD:0008378,GARD:0022531,GARD:0019986,GARD:0016242,Rare genetic disease +GARD:0008378,GARD:0022531,GARD:0020005,GARD:0006168,Rare genetic disease +GARD:0008378,GARD:0022506,GARD:0019789,GARD:0006168,Rare hepatic disease +GARD:0008378,GARD:0022529,GARD:0021677,GARD:0006168,Rare infertility +GARD:0008378,GARD:0022531,GARD:0019986,GARD:0006168,Rare genetic disease +GARD:0008378,GARD:0022531,GARD:0020005,GARD:0016242,Rare genetic disease +GARD:0008378,GARD:0022536,GARD:0022061,GARD:0016242,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008378,GARD:0022531,GARD:0021689,GARD:0006168,Rare genetic disease +GARD:0008378,GARD:0022531,GARD:0019228,GARD:0016242,Rare genetic disease +GARD:0008378,GARD:0022512,GARD:0019228,GARD:0016242,Rare renal disease +GARD:0008378,GARD:0022506,GARD:0019789,GARD:0016242,Rare hepatic disease +GARD:0008380,GARD:0022531,GARD:0020628,,Rare genetic disease +GARD:0008380,GARD:0022527,GARD:0020628,,Rare circulatory system disease +GARD:0008387,GARD:0022531,GARD:0021317,,Rare genetic disease +GARD:0008387,GARD:0022508,GARD:0021317,,Rare inborn errors of metabolism +GARD:0008387,GARD:0022531,GARD:0018947,,Rare genetic disease +GARD:0008387,GARD:0022508,GARD:0018947,,Rare inborn errors of metabolism +GARD:0008391,GARD:0022508,GARD:0007837,,Rare inborn errors of metabolism +GARD:0008391,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0008391,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0008391,GARD:0022531,GARD:0007837,,Rare genetic disease +GARD:0008397,GARD:0022508,GARD:0018953,,Rare inborn errors of metabolism +GARD:0008397,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0008397,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0008397,GARD:0022531,GARD:0018953,,Rare genetic disease +GARD:0008406,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0008406,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0008407,GARD:0022531,GARD:0019858,GARD:0017624,Rare genetic disease +GARD:0008407,GARD:0022513,GARD:0019832,GARD:0017624,Rare developmental defect during embryogenesis +GARD:0008407,GARD:0022513,GARD:0019856,GARD:0017625,Rare developmental defect during embryogenesis +GARD:0008407,GARD:0022531,GARD:0019867,GARD:0017624,Rare genetic disease +GARD:0008407,GARD:0022513,GARD:0019856,GARD:0017624,Rare developmental defect during embryogenesis +GARD:0008407,GARD:0022531,GARD:0019867,GARD:0017625,Rare genetic disease +GARD:0008407,GARD:0022534,GARD:0019874,GARD:0017624,Rare abdominal surgical disease +GARD:0008407,GARD:0022513,GARD:0019858,GARD:0017625,Rare developmental defect during embryogenesis +GARD:0008407,GARD:0022536,GARD:0019874,GARD:0017624,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008407,GARD:0022534,GARD:0019858,GARD:0017625,Rare abdominal surgical disease +GARD:0008407,GARD:0022524,GARD:0019832,GARD:0017625,Rare neurologic disease +GARD:0008407,GARD:0022531,GARD:0019858,GARD:0017625,Rare genetic disease +GARD:0008407,GARD:0022513,GARD:0019858,GARD:0017624,Rare developmental defect during embryogenesis +GARD:0008407,GARD:0022534,GARD:0019856,GARD:0017625,Rare abdominal surgical disease +GARD:0008407,GARD:0022513,GARD:0019874,GARD:0017625,Rare developmental defect during embryogenesis +GARD:0008407,GARD:0022511,GARD:0022023,GARD:0017625,Rare bone disease +GARD:0008407,GARD:0022534,GARD:0019856,GARD:0017624,Rare abdominal surgical disease +GARD:0008407,GARD:0022513,GARD:0019832,GARD:0017625,Rare developmental defect during embryogenesis +GARD:0008407,GARD:0022513,GARD:0022023,GARD:0017625,Rare developmental defect during embryogenesis +GARD:0008407,GARD:0022536,GARD:0019874,GARD:0017625,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008407,GARD:0022531,GARD:0022023,GARD:0017624,Rare genetic disease +GARD:0008407,GARD:0022531,GARD:0022441,GARD:0017624,Rare genetic disease +GARD:0008407,GARD:0022511,GARD:0022023,GARD:0017624,Rare bone disease +GARD:0008407,GARD:0022531,GARD:0019874,GARD:0017624,Rare genetic disease +GARD:0008407,GARD:0022513,GARD:0022023,GARD:0017624,Rare developmental defect during embryogenesis +GARD:0008407,GARD:0022534,GARD:0019874,GARD:0017625,Rare abdominal surgical disease +GARD:0008407,GARD:0022531,GARD:0022441,GARD:0017625,Rare genetic disease +GARD:0008407,GARD:0022531,GARD:0022023,GARD:0017625,Rare genetic disease +GARD:0008407,GARD:0022513,GARD:0019874,GARD:0017624,Rare developmental defect during embryogenesis +GARD:0008407,GARD:0022531,GARD:0021616,GARD:0017624,Rare genetic disease +GARD:0008407,GARD:0022531,GARD:0019874,GARD:0017625,Rare genetic disease +GARD:0008407,GARD:0022534,GARD:0019858,GARD:0017624,Rare abdominal surgical disease +GARD:0008407,GARD:0022524,GARD:0019832,GARD:0017624,Rare neurologic disease +GARD:0008407,GARD:0022531,GARD:0021616,GARD:0017625,Rare genetic disease +GARD:0008410,GARD:0022520,GARD:0019500,,Rare ophthalmic disorder +GARD:0008410,GARD:0022520,GARD:0019503,,Rare ophthalmic disorder +GARD:0008410,GARD:0022513,GARD:0019503,,Rare developmental defect during embryogenesis +GARD:0008410,GARD:0022531,GARD:0019503,,Rare genetic disease +GARD:0008410,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0008410,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0008410,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0008410,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0008410,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0008410,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0008410,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0008410,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0008410,GARD:0022531,GARD:0019500,,Rare genetic disease +GARD:0008410,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0008410,GARD:0022513,GARD:0019500,,Rare developmental defect during embryogenesis +GARD:0008410,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0008410,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0008414,GARD:0022531,GARD:0019998,GARD:0015370,Rare genetic disease +GARD:0008414,GARD:0022531,GARD:0019998,GARD:0007846,Rare genetic disease +GARD:0008414,GARD:0022528,GARD:0019998,GARD:0007846,Rare otorhinolaryngologic disease +GARD:0008414,GARD:0022531,GARD:0021507,GARD:0007846,Rare genetic disease +GARD:0008414,GARD:0022513,GARD:0019998,GARD:0007846,Rare developmental defect during embryogenesis +GARD:0008414,GARD:0022513,GARD:0019833,GARD:0015370,Rare developmental defect during embryogenesis +GARD:0008414,GARD:0022513,GARD:0019998,GARD:0015370,Rare developmental defect during embryogenesis +GARD:0008414,GARD:0022531,GARD:0021507,GARD:0015370,Rare genetic disease +GARD:0008414,GARD:0022507,GARD:0019998,GARD:0007846,Rare maxillo-facial surgical disease +GARD:0008414,GARD:0022528,GARD:0019998,GARD:0015370,Rare otorhinolaryngologic disease +GARD:0008414,GARD:0022513,GARD:0019833,GARD:0007846,Rare developmental defect during embryogenesis +GARD:0008414,GARD:0022507,GARD:0019998,GARD:0015370,Rare maxillo-facial surgical disease +GARD:0008416,GARD:0022510,GARD:0006317,GARD:0016524,Rare skin disease +GARD:0008416,GARD:0022513,GARD:0006317,GARD:0016524,Rare developmental defect during embryogenesis +GARD:0008416,GARD:0022531,GARD:0006317,GARD:0016524,Rare genetic disease +GARD:0008416,GARD:0022510,GARD:0006317,GARD:0000121,Rare skin disease +GARD:0008416,GARD:0022510,GARD:0006317,GARD:0017650,Rare skin disease +GARD:0008416,GARD:0022513,GARD:0006317,GARD:0017650,Rare developmental defect during embryogenesis +GARD:0008416,GARD:0022513,GARD:0006317,GARD:0000121,Rare developmental defect during embryogenesis +GARD:0008416,GARD:0022531,GARD:0006317,GARD:0017649,Rare genetic disease +GARD:0008416,GARD:0022531,GARD:0006317,GARD:0000121,Rare genetic disease +GARD:0008416,GARD:0022513,GARD:0006317,GARD:0017649,Rare developmental defect during embryogenesis +GARD:0008416,GARD:0022510,GARD:0006317,GARD:0017649,Rare skin disease +GARD:0008416,GARD:0022531,GARD:0006317,GARD:0017650,Rare genetic disease +GARD:0008419,GARD:0022520,GARD:0022120,,Rare ophthalmic disorder +GARD:0008419,GARD:0022513,GARD:0016857,,Rare developmental defect during embryogenesis +GARD:0008419,GARD:0022531,GARD:0022153,,Rare genetic disease +GARD:0008419,GARD:0022531,GARD:0020298,,Rare genetic disease +GARD:0008421,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0008421,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0008421,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008421,GARD:0022513,GARD:0020853,,Rare developmental defect during embryogenesis +GARD:0008421,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0008421,GARD:0022531,GARD:0020853,,Rare genetic disease +GARD:0008421,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0008421,GARD:0022531,GARD:0019214,,Rare genetic disease +GARD:0008421,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0008421,GARD:0022518,GARD:0020212,,Rare surgical thoracic disease +GARD:0008421,GARD:0022513,GARD:0019214,,Rare developmental defect during embryogenesis +GARD:0008421,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0008421,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0008422,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0008422,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0008422,GARD:0022531,GARD:0021341,,Rare genetic disease +GARD:0008422,GARD:0022531,GARD:0021607,,Rare genetic disease +GARD:0008422,GARD:0022519,GARD:0021607,,Rare surgical cardiac disease +GARD:0008422,GARD:0022508,GARD:0021341,,Rare inborn errors of metabolism +GARD:0008422,GARD:0022513,GARD:0022084,,Rare developmental defect during embryogenesis +GARD:0008422,GARD:0022520,GARD:0022084,,Rare ophthalmic disorder +GARD:0008422,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0008422,GARD:0022513,GARD:0021607,,Rare developmental defect during embryogenesis +GARD:0008422,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0008422,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0008422,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0008422,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0008422,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0008422,GARD:0022531,GARD:0022084,,Rare genetic disease +GARD:0008422,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0008423,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0008423,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0008423,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0008423,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0008423,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0008423,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0008423,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0008423,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0008424,GARD:0022508,GARD:0021305,,Rare inborn errors of metabolism +GARD:0008424,GARD:0022531,GARD:0021305,,Rare genetic disease +GARD:0008426,GARD:0022521,GARD:0019299,GARD:0015165,Rare endocrine disease +GARD:0008426,GARD:0022531,GARD:0019295,GARD:0015165,Rare genetic disease +GARD:0008426,GARD:0022521,GARD:0019295,GARD:0015165,Rare endocrine disease +GARD:0008427,GARD:0022523,GARD:0021981,GARD:0015185,Rare immune disease +GARD:0008427,GARD:0022531,GARD:0021981,GARD:0015185,Rare genetic disease +GARD:0008427,GARD:0022536,GARD:0021981,GARD:0015185,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008428,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0008428,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0008428,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0008428,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0008428,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0008428,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0008428,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0008432,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0008432,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0008432,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0008432,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0008432,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0008432,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0008432,GARD:0022524,GARD:0021937,,Rare neurologic disease +GARD:0008433,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0008433,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0008433,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0008433,GARD:0022524,GARD:0021937,,Rare neurologic disease +GARD:0008433,GARD:0022531,GARD:0019567,,Rare genetic disease +GARD:0008433,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0008433,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0008433,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0008433,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0008433,GARD:0022524,GARD:0019567,,Rare neurologic disease +GARD:0008435,GARD:0022529,GARD:0021677,,Rare infertility +GARD:0008435,GARD:0022531,GARD:0021689,,Rare genetic disease +GARD:0008435,GARD:0022532,GARD:0021470,,Rare urogenital disease +GARD:0008435,GARD:0022513,GARD:0021470,,Rare developmental defect during embryogenesis +GARD:0008435,GARD:0022521,GARD:0021470,,Rare endocrine disease +GARD:0008436,GARD:0022524,GARD:0019485,GARD:0007392,Rare neurologic disease +GARD:0008436,GARD:0022524,GARD:0019485,GARD:0010793,Rare neurologic disease +GARD:0008436,GARD:0022531,GARD:0021040,GARD:0010792,Rare genetic disease +GARD:0008436,GARD:0022531,GARD:0021040,GARD:0010793,Rare genetic disease +GARD:0008436,GARD:0022524,GARD:0019485,GARD:0010792,Rare neurologic disease +GARD:0008436,GARD:0022531,GARD:0021040,GARD:0007392,Rare genetic disease +GARD:0008438,GARD:0022510,GARD:0018996,,Rare skin disease +GARD:0008438,GARD:0022531,GARD:0018996,,Rare genetic disease +GARD:0008449,GARD:0022511,GARD:0008542,,Rare bone disease +GARD:0008449,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0008449,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0008449,GARD:0022531,GARD:0008542,,Rare genetic disease +GARD:0008449,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0008449,GARD:0022513,GARD:0008542,,Rare developmental defect during embryogenesis +GARD:0008457,GARD:0022531,GARD:0022488,,Rare genetic disease +GARD:0008457,GARD:0021079,GARD:0021453,,Rare systemic or rheumatological disease of childhood +GARD:0008457,GARD:0022523,GARD:0021161,,Rare immune disease +GARD:0008457,GARD:0022525,GARD:0021453,,Rare systemic or rheumatologic disease +GARD:0008457,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0008457,GARD:0022531,GARD:0021453,,Rare genetic disease +GARD:0008457,GARD:0022531,GARD:0021161,,Rare genetic disease +GARD:0008466,GARD:0022531,GARD:0020116,,Rare genetic disease +GARD:0008466,GARD:0022529,GARD:0021682,,Rare infertility +GARD:0008466,GARD:0022531,GARD:0020317,,Rare genetic disease +GARD:0008466,GARD:0022521,GARD:0021116,,Rare endocrine disease +GARD:0008466,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0008466,GARD:0022531,GARD:0019804,,Rare genetic disease +GARD:0008466,GARD:0022523,GARD:0020116,,Rare immune disease +GARD:0008466,GARD:0022531,GARD:0019293,,Rare genetic disease +GARD:0008466,GARD:0022536,GARD:0022148,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008466,GARD:0022521,GARD:0020224,,Rare endocrine disease +GARD:0008466,GARD:0022514,GARD:0019293,,Rare gynecologic or obstetric disease +GARD:0008466,GARD:0022531,GARD:0022148,,Rare genetic disease +GARD:0008466,GARD:0022531,GARD:0020407,,Rare genetic disease +GARD:0008466,GARD:0022516,GARD:0022148,,Rare gastroenterologic disease +GARD:0008466,GARD:0022536,GARD:0020116,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008466,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0008466,GARD:0022521,GARD:0019293,,Rare endocrine disease +GARD:0008466,GARD:0022521,GARD:0019804,,Rare endocrine disease +GARD:0008468,GARD:0022524,GARD:0020742,,Rare neurologic disease +GARD:0008468,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0008468,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0008471,GARD:0022520,GARD:0021124,,Rare ophthalmic disorder +GARD:0008471,GARD:0022508,GARD:0021124,,Rare inborn errors of metabolism +GARD:0008471,GARD:0022531,GARD:0021124,,Rare genetic disease +GARD:0008472,GARD:0021079,GARD:0010927,,Rare systemic or rheumatological disease of childhood +GARD:0008472,GARD:0022531,GARD:0010927,,Rare genetic disease +GARD:0008472,GARD:0022523,GARD:0010927,,Rare immune disease +GARD:0008472,GARD:0022510,GARD:0010927,,Rare skin disease +GARD:0008472,GARD:0022531,GARD:0022290,,Rare genetic disease +GARD:0008472,GARD:0022512,GARD:0022290,,Rare renal disease +GARD:0008472,GARD:0022536,GARD:0022290,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008472,GARD:0022525,GARD:0010927,,Rare systemic or rheumatologic disease +GARD:0008476,GARD:0022508,GARD:0020756,GARD:0015098,Rare inborn errors of metabolism +GARD:0008476,GARD:0022531,GARD:0020756,GARD:0015098,Rare genetic disease +GARD:0008476,GARD:0022515,GARD:0020527,GARD:0015098,Rare cardiac disease +GARD:0008476,GARD:0022515,GARD:0020521,GARD:0015311,Rare cardiac disease +GARD:0008476,GARD:0022536,GARD:0020521,GARD:0015098,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008476,GARD:0022508,GARD:0020756,GARD:0015311,Rare inborn errors of metabolism +GARD:0008476,GARD:0022531,GARD:0020527,GARD:0015098,Rare genetic disease +GARD:0008476,GARD:0022520,GARD:0019540,GARD:0015098,Rare ophthalmic disorder +GARD:0008476,GARD:0022531,GARD:0020527,GARD:0015311,Rare genetic disease +GARD:0008476,GARD:0022515,GARD:0020527,GARD:0015311,Rare cardiac disease +GARD:0008476,GARD:0022531,GARD:0020521,GARD:0015098,Rare genetic disease +GARD:0008476,GARD:0022531,GARD:0019540,GARD:0015311,Rare genetic disease +GARD:0008476,GARD:0022531,GARD:0019540,GARD:0015098,Rare genetic disease +GARD:0008476,GARD:0022536,GARD:0020521,GARD:0015311,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008476,GARD:0022520,GARD:0019540,GARD:0015311,Rare ophthalmic disorder +GARD:0008476,GARD:0022536,GARD:0020527,GARD:0015098,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008476,GARD:0022531,GARD:0020521,GARD:0015311,Rare genetic disease +GARD:0008476,GARD:0022531,GARD:0020756,GARD:0015311,Rare genetic disease +GARD:0008476,GARD:0022536,GARD:0020527,GARD:0015311,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008476,GARD:0022515,GARD:0020521,GARD:0015098,Rare cardiac disease +GARD:0008479,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0008479,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0008479,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0008480,GARD:0022534,GARD:0006227,GARD:0015804,Rare abdominal surgical disease +GARD:0008480,GARD:0022513,GARD:0006227,GARD:0015157,Rare developmental defect during embryogenesis +GARD:0008480,GARD:0022518,GARD:0006227,GARD:0015804,Rare surgical thoracic disease +GARD:0008480,GARD:0022527,GARD:0020628,GARD:0015804,Rare circulatory system disease +GARD:0008480,GARD:0022510,GARD:0006227,GARD:0015157,Rare skin disease +GARD:0008480,GARD:0022527,GARD:0020628,GARD:0015157,Rare circulatory system disease +GARD:0008480,GARD:0022531,GARD:0006227,GARD:0015157,Rare genetic disease +GARD:0008480,GARD:0022531,GARD:0020628,GARD:0015157,Rare genetic disease +GARD:0008480,GARD:0022513,GARD:0006227,GARD:0015804,Rare developmental defect during embryogenesis +GARD:0008480,GARD:0022518,GARD:0006227,GARD:0015157,Rare surgical thoracic disease +GARD:0008480,GARD:0022531,GARD:0006227,GARD:0015804,Rare genetic disease +GARD:0008480,GARD:0022510,GARD:0006227,GARD:0015804,Rare skin disease +GARD:0008480,GARD:0022531,GARD:0020628,GARD:0015804,Rare genetic disease +GARD:0008480,GARD:0022534,GARD:0006227,GARD:0015157,Rare abdominal surgical disease +GARD:0008485,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0008485,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0008485,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0008486,GARD:0022531,GARD:0006322,GARD:0015982,Rare genetic disease +GARD:0008486,GARD:0022531,GARD:0021603,GARD:0015982,Rare genetic disease +GARD:0008486,GARD:0022513,GARD:0006322,GARD:0015982,Rare developmental defect during embryogenesis +GARD:0008486,GARD:0022510,GARD:0006322,GARD:0015982,Rare skin disease +GARD:0008486,GARD:0022513,GARD:0000786,GARD:0015982,Rare developmental defect during embryogenesis +GARD:0008486,GARD:0022519,GARD:0021607,GARD:0015982,Rare surgical cardiac disease +GARD:0008486,GARD:0022531,GARD:0021611,GARD:0015982,Rare genetic disease +GARD:0008486,GARD:0022508,GARD:0021337,GARD:0015982,Rare inborn errors of metabolism +GARD:0008486,GARD:0022510,GARD:0021610,GARD:0015982,Rare skin disease +GARD:0008486,GARD:0022524,GARD:0021603,GARD:0015982,Rare neurologic disease +GARD:0008486,GARD:0022531,GARD:0021337,GARD:0015982,Rare genetic disease +GARD:0008486,GARD:0022531,GARD:0021607,GARD:0015982,Rare genetic disease +GARD:0008486,GARD:0022525,GARD:0006322,GARD:0015982,Rare systemic or rheumatologic disease +GARD:0008486,GARD:0022513,GARD:0021607,GARD:0015982,Rare developmental defect during embryogenesis +GARD:0008486,GARD:0022512,GARD:0021611,GARD:0015982,Rare renal disease +GARD:0008486,GARD:0022531,GARD:0000786,GARD:0015982,Rare genetic disease +GARD:0008486,GARD:0022531,GARD:0021610,GARD:0015982,Rare genetic disease +GARD:0008487,GARD:0022510,GARD:0020328,,Rare skin disease +GARD:0008487,GARD:0022535,GARD:0020328,,Rare neoplastic disease +GARD:0008488,GARD:0022535,GARD:0021421,GARD:0016132,Rare neoplastic disease +GARD:0008488,GARD:0022521,GARD:0021421,GARD:0015358,Rare endocrine disease +GARD:0008488,GARD:0022535,GARD:0021421,GARD:0015358,Rare neoplastic disease +GARD:0008488,GARD:0022535,GARD:0021421,GARD:0016133,Rare neoplastic disease +GARD:0008488,GARD:0022531,GARD:0021421,GARD:0016133,Rare genetic disease +GARD:0008488,GARD:0022521,GARD:0021421,GARD:0015391,Rare endocrine disease +GARD:0008488,GARD:0022535,GARD:0021421,GARD:0015391,Rare neoplastic disease +GARD:0008488,GARD:0022535,GARD:0021421,GARD:0005206,Rare neoplastic disease +GARD:0008488,GARD:0022521,GARD:0021421,GARD:0016133,Rare endocrine disease +GARD:0008488,GARD:0022531,GARD:0021421,GARD:0015354,Rare genetic disease +GARD:0008488,GARD:0022521,GARD:0021421,GARD:0016132,Rare endocrine disease +GARD:0008488,GARD:0022521,GARD:0021421,GARD:0005206,Rare endocrine disease +GARD:0008488,GARD:0022535,GARD:0021421,GARD:0015354,Rare neoplastic disease +GARD:0008488,GARD:0022531,GARD:0021421,GARD:0005206,Rare genetic disease +GARD:0008488,GARD:0022531,GARD:0021421,GARD:0015391,Rare genetic disease +GARD:0008488,GARD:0022531,GARD:0021421,GARD:0015358,Rare genetic disease +GARD:0008488,GARD:0022531,GARD:0021421,GARD:0016132,Rare genetic disease +GARD:0008488,GARD:0022521,GARD:0021421,GARD:0015354,Rare endocrine disease +GARD:0008491,GARD:0022524,GARD:0007015,,Rare neurologic disease +GARD:0008491,GARD:0022535,GARD:0007015,,Rare neoplastic disease +GARD:0008491,GARD:0022521,GARD:0007015,,Rare endocrine disease +GARD:0008495,GARD:0022508,GARD:0021355,,Rare inborn errors of metabolism +GARD:0008495,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0008495,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0008495,GARD:0022531,GARD:0021355,,Rare genetic disease +GARD:0008497,GARD:0022531,GARD:0005440,,Rare genetic disease +GARD:0008497,GARD:0022528,GARD:0005440,,Rare otorhinolaryngologic disease +GARD:0008497,GARD:0022520,GARD:0005440,,Rare ophthalmic disorder +GARD:0008497,GARD:0022513,GARD:0005440,,Rare developmental defect during embryogenesis +GARD:0008501,GARD:0022510,GARD:0021176,GARD:0016012,Rare skin disease +GARD:0008501,GARD:0022535,GARD:0021176,GARD:0016012,Rare neoplastic disease +GARD:0008501,GARD:0022531,GARD:0022489,GARD:0016012,Rare genetic disease +GARD:0008505,GARD:0022531,GARD:0006322,,Rare genetic disease +GARD:0008505,GARD:0022513,GARD:0006322,,Rare developmental defect during embryogenesis +GARD:0008505,GARD:0022525,GARD:0006322,,Rare systemic or rheumatologic disease +GARD:0008505,GARD:0022510,GARD:0006322,,Rare skin disease +GARD:0008507,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0008507,GARD:0022510,GARD:0006322,,Rare skin disease +GARD:0008507,GARD:0022531,GARD:0020095,,Rare genetic disease +GARD:0008507,GARD:0022525,GARD:0006322,,Rare systemic or rheumatologic disease +GARD:0008507,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0008507,GARD:0022518,GARD:0020212,,Rare surgical thoracic disease +GARD:0008507,GARD:0022531,GARD:0006322,,Rare genetic disease +GARD:0008507,GARD:0022526,GARD:0020095,,Rare odontologic disease +GARD:0008507,GARD:0022513,GARD:0006322,,Rare developmental defect during embryogenesis +GARD:0008509,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008509,GARD:0022521,GARD:0020217,,Rare endocrine disease +GARD:0008509,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0008509,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0008509,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0008509,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0008509,GARD:0022531,GARD:0020312,,Rare genetic disease +GARD:0008509,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0008509,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0008517,GARD:0022531,GARD:0019448,,Rare genetic disease +GARD:0008517,GARD:0022510,GARD:0019448,,Rare skin disease +GARD:0008520,GARD:0022524,GARD:0021002,,Rare neurologic disease +GARD:0008520,GARD:0022513,GARD:0021002,,Rare developmental defect during embryogenesis +GARD:0008520,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0008520,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0008520,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0008520,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0008520,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0008520,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0008521,GARD:0022524,GARD:0021724,,Rare neurologic disease +GARD:0008521,GARD:0022531,GARD:0021724,,Rare genetic disease +GARD:0008521,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0008521,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0008526,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0008527,GARD:0022531,GARD:0015027,,Rare genetic disease +GARD:0008527,GARD:0022517,GARD:0015027,,Rare respiratory disease +GARD:0008528,GARD:0022514,GARD:0020049,,Rare gynecologic or obstetric disease +GARD:0008528,GARD:0022522,GARD:0020675,,Rare hematologic disease +GARD:0008529,GARD:0022513,GARD:0021185,GARD:0021228,Rare developmental defect during embryogenesis +GARD:0008529,GARD:0022513,GARD:0021185,GARD:0021227,Rare developmental defect during embryogenesis +GARD:0008529,GARD:0022531,GARD:0021185,GARD:0021227,Rare genetic disease +GARD:0008529,GARD:0022531,GARD:0021185,GARD:0021228,Rare genetic disease +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0016020,Rare infertility +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0016274,Rare genetic disease +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0016245,Rare genetic disease +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0016019,Rare infertility +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0016246,Rare infertility +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0016291,Rare genetic disease +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0015041,Rare genetic disease +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0015734,Rare genetic disease +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0015302,Rare genetic disease +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0016245,Rare infertility +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0016292,Rare infertility +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0015041,Rare infertility +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0015904,Rare infertility +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0015960,Rare infertility +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0008406,Rare genetic disease +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0016246,Rare genetic disease +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0016290,Rare genetic disease +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0016274,Rare infertility +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0015734,Rare infertility +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0015235,Rare infertility +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0015960,Rare genetic disease +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0016020,Rare genetic disease +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0015235,Rare genetic disease +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0016019,Rare genetic disease +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0015214,Rare infertility +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0016420,Rare genetic disease +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0016173,Rare infertility +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0016436,Rare genetic disease +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0015904,Rare genetic disease +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0016292,Rare genetic disease +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0016173,Rare genetic disease +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0016420,Rare infertility +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0016290,Rare infertility +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0016436,Rare infertility +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0015302,Rare infertility +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0008406,Rare infertility +GARD:0008530,GARD:0022531,GARD:0012513,GARD:0015214,Rare genetic disease +GARD:0008530,GARD:0022529,GARD:0012513,GARD:0016291,Rare infertility +GARD:0008531,GARD:0022513,GARD:0001118,,Rare developmental defect during embryogenesis +GARD:0008531,GARD:0022531,GARD:0001118,,Rare genetic disease +GARD:0008531,GARD:0022524,GARD:0001118,,Rare neurologic disease +GARD:0008531,GARD:0022511,GARD:0001118,,Rare bone disease +GARD:0008532,GARD:0022531,GARD:0019847,GARD:0010805,Rare genetic disease +GARD:0008532,GARD:0022535,GARD:0019847,GARD:0017197,Rare neoplastic disease +GARD:0008532,GARD:0022535,GARD:0019847,GARD:0021703,Rare neoplastic disease +GARD:0008532,GARD:0022531,GARD:0019847,GARD:0021703,Rare genetic disease +GARD:0008532,GARD:0022531,GARD:0021012,GARD:0017790,Rare genetic disease +GARD:0008532,GARD:0022516,GARD:0019847,GARD:0010805,Rare gastroenterologic disease +GARD:0008532,GARD:0022531,GARD:0021548,GARD:0021703,Rare genetic disease +GARD:0008532,GARD:0022531,GARD:0019847,GARD:0017868,Rare genetic disease +GARD:0008532,GARD:0022536,GARD:0019847,GARD:0017790,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008532,GARD:0022516,GARD:0019847,GARD:0017790,Rare gastroenterologic disease +GARD:0008532,GARD:0022536,GARD:0019847,GARD:0021703,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008532,GARD:0022531,GARD:0021548,GARD:0017772,Rare genetic disease +GARD:0008532,GARD:0022531,GARD:0019847,GARD:0017197,Rare genetic disease +GARD:0008532,GARD:0022516,GARD:0019847,GARD:0017197,Rare gastroenterologic disease +GARD:0008532,GARD:0022531,GARD:0019847,GARD:0017772,Rare genetic disease +GARD:0008532,GARD:0022535,GARD:0019847,GARD:0017868,Rare neoplastic disease +GARD:0008532,GARD:0022531,GARD:0021548,GARD:0010805,Rare genetic disease +GARD:0008532,GARD:0022516,GARD:0019847,GARD:0017772,Rare gastroenterologic disease +GARD:0008532,GARD:0022531,GARD:0021548,GARD:0017197,Rare genetic disease +GARD:0008532,GARD:0022531,GARD:0021548,GARD:0017868,Rare genetic disease +GARD:0008532,GARD:0022531,GARD:0021012,GARD:0017772,Rare genetic disease +GARD:0008532,GARD:0022536,GARD:0019847,GARD:0017197,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008532,GARD:0022536,GARD:0019847,GARD:0017772,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008532,GARD:0022535,GARD:0019847,GARD:0017790,Rare neoplastic disease +GARD:0008532,GARD:0022516,GARD:0019847,GARD:0021703,Rare gastroenterologic disease +GARD:0008532,GARD:0022536,GARD:0019847,GARD:0010805,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008532,GARD:0022535,GARD:0019847,GARD:0017772,Rare neoplastic disease +GARD:0008532,GARD:0022531,GARD:0021012,GARD:0021703,Rare genetic disease +GARD:0008532,GARD:0022531,GARD:0021012,GARD:0017197,Rare genetic disease +GARD:0008532,GARD:0022531,GARD:0021548,GARD:0017790,Rare genetic disease +GARD:0008532,GARD:0022516,GARD:0019847,GARD:0017868,Rare gastroenterologic disease +GARD:0008532,GARD:0022531,GARD:0021012,GARD:0017868,Rare genetic disease +GARD:0008532,GARD:0022535,GARD:0019847,GARD:0010805,Rare neoplastic disease +GARD:0008532,GARD:0022531,GARD:0019847,GARD:0017790,Rare genetic disease +GARD:0008532,GARD:0022531,GARD:0021012,GARD:0010805,Rare genetic disease +GARD:0008532,GARD:0022536,GARD:0019847,GARD:0017868,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008533,GARD:0022531,GARD:0021012,GARD:0021840,Rare genetic disease +GARD:0008533,GARD:0022531,GARD:0021012,GARD:0009905,Rare genetic disease +GARD:0008533,GARD:0022535,GARD:0021793,GARD:0006821,Rare neoplastic disease +GARD:0008533,GARD:0022516,GARD:0021793,GARD:0021840,Rare gastroenterologic disease +GARD:0008533,GARD:0022531,GARD:0021793,GARD:0009905,Rare genetic disease +GARD:0008533,GARD:0022531,GARD:0022360,GARD:0021840,Rare genetic disease +GARD:0008533,GARD:0022535,GARD:0022360,GARD:0021840,Rare neoplastic disease +GARD:0008533,GARD:0022531,GARD:0021793,GARD:0006821,Rare genetic disease +GARD:0008533,GARD:0022516,GARD:0021793,GARD:0009905,Rare gastroenterologic disease +GARD:0008533,GARD:0022535,GARD:0022360,GARD:0009905,Rare neoplastic disease +GARD:0008533,GARD:0022516,GARD:0021793,GARD:0006821,Rare gastroenterologic disease +GARD:0008533,GARD:0022531,GARD:0022360,GARD:0006821,Rare genetic disease +GARD:0008533,GARD:0022535,GARD:0021793,GARD:0021840,Rare neoplastic disease +GARD:0008533,GARD:0022535,GARD:0022360,GARD:0006821,Rare neoplastic disease +GARD:0008533,GARD:0022531,GARD:0021012,GARD:0006821,Rare genetic disease +GARD:0008533,GARD:0022531,GARD:0021793,GARD:0021840,Rare genetic disease +GARD:0008533,GARD:0022531,GARD:0022360,GARD:0009905,Rare genetic disease +GARD:0008533,GARD:0022535,GARD:0021793,GARD:0009905,Rare neoplastic disease +GARD:0008535,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0008535,GARD:0022524,GARD:0021754,,Rare neurologic disease +GARD:0008535,GARD:0022531,GARD:0021802,,Rare genetic disease +GARD:0008535,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0008538,GARD:0022532,GARD:0019147,GARD:0019411,Rare urogenital disease +GARD:0008538,GARD:0022532,GARD:0019147,GARD:0021468,Rare urogenital disease +GARD:0008538,GARD:0022513,GARD:0019147,GARD:0021470,Rare developmental defect during embryogenesis +GARD:0008538,GARD:0022532,GARD:0019147,GARD:0004272,Rare urogenital disease +GARD:0008538,GARD:0022513,GARD:0019147,GARD:0021468,Rare developmental defect during embryogenesis +GARD:0008538,GARD:0022521,GARD:0019147,GARD:0004272,Rare endocrine disease +GARD:0008538,GARD:0022521,GARD:0019147,GARD:0021468,Rare endocrine disease +GARD:0008538,GARD:0022521,GARD:0019147,GARD:0019411,Rare endocrine disease +GARD:0008538,GARD:0022513,GARD:0019147,GARD:0019411,Rare developmental defect during embryogenesis +GARD:0008538,GARD:0022513,GARD:0019147,GARD:0004272,Rare developmental defect during embryogenesis +GARD:0008538,GARD:0022521,GARD:0019147,GARD:0021470,Rare endocrine disease +GARD:0008538,GARD:0022532,GARD:0019147,GARD:0021470,Rare urogenital disease +GARD:0008539,GARD:0022508,GARD:0018959,,Rare inborn errors of metabolism +GARD:0008539,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0008539,GARD:0022531,GARD:0018959,,Rare genetic disease +GARD:0008539,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0008541,GARD:0022524,GARD:0019484,GARD:0010792,Rare neurologic disease +GARD:0008541,GARD:0022524,GARD:0019484,GARD:0010793,Rare neurologic disease +GARD:0008541,GARD:0022524,GARD:0019484,GARD:0010791,Rare neurologic disease +GARD:0008542,GARD:0022513,GARD:0021567,GARD:0008449,Rare developmental defect during embryogenesis +GARD:0008542,GARD:0022531,GARD:0021567,GARD:0013160,Rare genetic disease +GARD:0008542,GARD:0022511,GARD:0021567,GARD:0008449,Rare bone disease +GARD:0008542,GARD:0022513,GARD:0021567,GARD:0008754,Rare developmental defect during embryogenesis +GARD:0008542,GARD:0022513,GARD:0021567,GARD:0019050,Rare developmental defect during embryogenesis +GARD:0008542,GARD:0022511,GARD:0021567,GARD:0008754,Rare bone disease +GARD:0008542,GARD:0022511,GARD:0021567,GARD:0018679,Rare bone disease +GARD:0008542,GARD:0022531,GARD:0021567,GARD:0006039,Rare genetic disease +GARD:0008542,GARD:0022513,GARD:0021567,GARD:0018679,Rare developmental defect during embryogenesis +GARD:0008542,GARD:0022531,GARD:0021567,GARD:0008449,Rare genetic disease +GARD:0008542,GARD:0022511,GARD:0021567,GARD:0006039,Rare bone disease +GARD:0008542,GARD:0022513,GARD:0021567,GARD:0013160,Rare developmental defect during embryogenesis +GARD:0008542,GARD:0022513,GARD:0021567,GARD:0006039,Rare developmental defect during embryogenesis +GARD:0008542,GARD:0022511,GARD:0021567,GARD:0013160,Rare bone disease +GARD:0008542,GARD:0022531,GARD:0021567,GARD:0019050,Rare genetic disease +GARD:0008542,GARD:0022511,GARD:0021567,GARD:0019050,Rare bone disease +GARD:0008542,GARD:0022531,GARD:0021567,GARD:0008754,Rare genetic disease +GARD:0008542,GARD:0022531,GARD:0021567,GARD:0018679,Rare genetic disease +GARD:0008547,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0008547,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0008548,GARD:0022531,GARD:0021241,,Rare genetic disease +GARD:0008548,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0008548,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0008549,GARD:0022513,GARD:0019482,,Rare developmental defect during embryogenesis +GARD:0008549,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0008549,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0008549,GARD:0022513,GARD:0019997,,Rare developmental defect during embryogenesis +GARD:0008549,GARD:0022531,GARD:0019482,,Rare genetic disease +GARD:0008549,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0008549,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0008549,GARD:0022531,GARD:0019997,,Rare genetic disease +GARD:0008549,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0008549,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0008549,GARD:0022524,GARD:0019482,,Rare neurologic disease +GARD:0008549,GARD:0022507,GARD:0019997,,Rare maxillo-facial surgical disease +GARD:0008549,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0008550,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0008550,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0008550,GARD:0022510,GARD:0019448,,Rare skin disease +GARD:0008550,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0008550,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0008550,GARD:0022531,GARD:0019448,,Rare genetic disease +GARD:0008550,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0008553,GARD:0022531,GARD:0020076,,Rare genetic disease +GARD:0008553,GARD:0022524,GARD:0018721,,Rare neurologic disease +GARD:0008553,GARD:0022531,GARD:0018721,,Rare genetic disease +GARD:0008553,GARD:0022531,GARD:0019569,,Rare genetic disease +GARD:0008553,GARD:0022524,GARD:0020076,,Rare neurologic disease +GARD:0008555,GARD:0022512,GARD:0017507,,Rare renal disease +GARD:0008555,GARD:0022536,GARD:0017507,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008555,GARD:0022531,GARD:0017507,,Rare genetic disease +GARD:0008557,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0008557,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0008559,GARD:0022536,GARD:0007892,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008559,GARD:0022512,GARD:0007892,,Rare renal disease +GARD:0008559,GARD:0022531,GARD:0007892,,Rare genetic disease +GARD:0008559,GARD:0022535,GARD:0007892,,Rare neoplastic disease +GARD:0008562,GARD:0022513,GARD:0021450,GARD:0015687,Rare developmental defect during embryogenesis +GARD:0008562,GARD:0022513,GARD:0021450,GARD:0005593,Rare developmental defect during embryogenesis +GARD:0008562,GARD:0022531,GARD:0019197,GARD:0015687,Rare genetic disease +GARD:0008562,GARD:0022531,GARD:0019197,GARD:0015399,Rare genetic disease +GARD:0008562,GARD:0022524,GARD:0021450,GARD:0015143,Rare neurologic disease +GARD:0008562,GARD:0022513,GARD:0019197,GARD:0015719,Rare developmental defect during embryogenesis +GARD:0008562,GARD:0022531,GARD:0021450,GARD:0005593,Rare genetic disease +GARD:0008562,GARD:0022513,GARD:0019197,GARD:0016158,Rare developmental defect during embryogenesis +GARD:0008562,GARD:0022531,GARD:0021450,GARD:0015143,Rare genetic disease +GARD:0008562,GARD:0022524,GARD:0021450,GARD:0016158,Rare neurologic disease +GARD:0008562,GARD:0022531,GARD:0021450,GARD:0016158,Rare genetic disease +GARD:0008562,GARD:0022513,GARD:0021450,GARD:0016013,Rare developmental defect during embryogenesis +GARD:0008562,GARD:0022513,GARD:0019197,GARD:0015399,Rare developmental defect during embryogenesis +GARD:0008562,GARD:0022531,GARD:0019197,GARD:0016013,Rare genetic disease +GARD:0008562,GARD:0022531,GARD:0021450,GARD:0015687,Rare genetic disease +GARD:0008562,GARD:0022513,GARD:0021450,GARD:0015719,Rare developmental defect during embryogenesis +GARD:0008562,GARD:0022513,GARD:0019197,GARD:0016013,Rare developmental defect during embryogenesis +GARD:0008562,GARD:0022531,GARD:0021450,GARD:0015719,Rare genetic disease +GARD:0008562,GARD:0022513,GARD:0019197,GARD:0015143,Rare developmental defect during embryogenesis +GARD:0008562,GARD:0022513,GARD:0021450,GARD:0016158,Rare developmental defect during embryogenesis +GARD:0008562,GARD:0022531,GARD:0019197,GARD:0015719,Rare genetic disease +GARD:0008562,GARD:0022531,GARD:0019197,GARD:0016158,Rare genetic disease +GARD:0008562,GARD:0022531,GARD:0019197,GARD:0005593,Rare genetic disease +GARD:0008562,GARD:0022524,GARD:0021450,GARD:0016013,Rare neurologic disease +GARD:0008562,GARD:0022513,GARD:0019197,GARD:0015687,Rare developmental defect during embryogenesis +GARD:0008562,GARD:0022524,GARD:0021450,GARD:0015687,Rare neurologic disease +GARD:0008562,GARD:0022513,GARD:0019197,GARD:0005593,Rare developmental defect during embryogenesis +GARD:0008562,GARD:0022511,GARD:0019197,GARD:0005593,Rare bone disease +GARD:0008562,GARD:0022511,GARD:0019197,GARD:0015399,Rare bone disease +GARD:0008562,GARD:0022513,GARD:0021450,GARD:0015143,Rare developmental defect during embryogenesis +GARD:0008562,GARD:0022511,GARD:0019197,GARD:0016013,Rare bone disease +GARD:0008562,GARD:0022513,GARD:0021450,GARD:0015399,Rare developmental defect during embryogenesis +GARD:0008562,GARD:0022524,GARD:0021450,GARD:0015399,Rare neurologic disease +GARD:0008562,GARD:0022511,GARD:0019197,GARD:0015143,Rare bone disease +GARD:0008562,GARD:0022511,GARD:0019197,GARD:0015719,Rare bone disease +GARD:0008562,GARD:0022531,GARD:0019197,GARD:0015143,Rare genetic disease +GARD:0008562,GARD:0022531,GARD:0021450,GARD:0015399,Rare genetic disease +GARD:0008562,GARD:0022531,GARD:0021450,GARD:0016013,Rare genetic disease +GARD:0008562,GARD:0022524,GARD:0021450,GARD:0005593,Rare neurologic disease +GARD:0008562,GARD:0022524,GARD:0021450,GARD:0015719,Rare neurologic disease +GARD:0008562,GARD:0022511,GARD:0019197,GARD:0015687,Rare bone disease +GARD:0008562,GARD:0022511,GARD:0019197,GARD:0016158,Rare bone disease +GARD:0008563,GARD:0022524,GARD:0021269,,Rare neurologic disease +GARD:0008570,GARD:0022521,GARD:0020136,,Rare endocrine disease +GARD:0008570,GARD:0022524,GARD:0019389,,Rare neurologic disease +GARD:0008570,GARD:0022524,GARD:0020656,,Rare neurologic disease +GARD:0008570,GARD:0022524,GARD:0011979,,Rare neurologic disease +GARD:0008573,GARD:0022536,GARD:0020526,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008573,GARD:0022531,GARD:0020393,,Rare genetic disease +GARD:0008573,GARD:0022515,GARD:0020526,,Rare cardiac disease +GARD:0008573,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0008573,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0008573,GARD:0022531,GARD:0020526,,Rare genetic disease +GARD:0008574,GARD:0022531,GARD:0002003,,Rare genetic disease +GARD:0008574,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0008574,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0008577,GARD:0022520,GARD:0019549,GARD:0021103,Rare ophthalmic disorder +GARD:0008577,GARD:0022520,GARD:0019549,GARD:0020442,Rare ophthalmic disorder +GARD:0008577,GARD:0022520,GARD:0019549,GARD:0007862,Rare ophthalmic disorder +GARD:0008577,GARD:0022520,GARD:0019549,GARD:0021068,Rare ophthalmic disorder +GARD:0008577,GARD:0022520,GARD:0019549,GARD:0021100,Rare ophthalmic disorder +GARD:0008578,GARD:0022524,GARD:0016610,,Rare neurologic disease +GARD:0008578,GARD:0022531,GARD:0016610,,Rare genetic disease +GARD:0008580,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0008580,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0008580,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0008580,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0008580,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0008580,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0008583,GARD:0022513,GARD:0019482,,Rare developmental defect during embryogenesis +GARD:0008583,GARD:0022531,GARD:0019997,,Rare genetic disease +GARD:0008583,GARD:0022524,GARD:0019482,,Rare neurologic disease +GARD:0008583,GARD:0022513,GARD:0019997,,Rare developmental defect during embryogenesis +GARD:0008583,GARD:0022507,GARD:0019997,,Rare maxillo-facial surgical disease +GARD:0008583,GARD:0022531,GARD:0019482,,Rare genetic disease +GARD:0008585,GARD:0022513,GARD:0019207,,Rare developmental defect during embryogenesis +GARD:0008585,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0008585,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0008585,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0008585,GARD:0022511,GARD:0019207,,Rare bone disease +GARD:0008585,GARD:0022531,GARD:0019207,,Rare genetic disease +GARD:0008586,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0008586,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0008586,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0008586,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0008586,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0008586,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0008588,GARD:0022521,GARD:0010416,,Rare endocrine disease +GARD:0008588,GARD:0022508,GARD:0010416,,Rare inborn errors of metabolism +GARD:0008588,GARD:0022531,GARD:0010416,,Rare genetic disease +GARD:0008592,GARD:0022531,GARD:0019927,,Rare genetic disease +GARD:0008592,GARD:0022524,GARD:0019927,,Rare neurologic disease +GARD:0008593,GARD:0022513,GARD:0019390,,Rare developmental defect during embryogenesis +GARD:0008593,GARD:0022531,GARD:0020294,,Rare genetic disease +GARD:0008595,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0008595,GARD:0022524,GARD:0019413,,Rare neurologic disease +GARD:0008595,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0008595,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0008595,GARD:0022531,GARD:0019413,,Rare genetic disease +GARD:0008595,GARD:0022508,GARD:0021352,,Rare inborn errors of metabolism +GARD:0008595,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0008595,GARD:0022531,GARD:0021352,,Rare genetic disease +GARD:0008595,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0008595,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0008598,GARD:0022535,GARD:0021761,GARD:0015106,Rare neoplastic disease +GARD:0008598,GARD:0022516,GARD:0021761,GARD:0015106,Rare gastroenterologic disease +GARD:0008598,GARD:0022531,GARD:0021012,GARD:0015106,Rare genetic disease +GARD:0008598,GARD:0022536,GARD:0021761,GARD:0015106,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008600,GARD:0022513,GARD:0016822,GARD:0015227,Rare developmental defect during embryogenesis +GARD:0008600,GARD:0022531,GARD:0019228,GARD:0015227,Rare genetic disease +GARD:0008600,GARD:0022512,GARD:0019228,GARD:0015227,Rare renal disease +GARD:0008600,GARD:0022531,GARD:0019538,GARD:0015227,Rare genetic disease +GARD:0008600,GARD:0022511,GARD:0016822,GARD:0015227,Rare bone disease +GARD:0008600,GARD:0022536,GARD:0022061,GARD:0015227,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008600,GARD:0022520,GARD:0019538,GARD:0015227,Rare ophthalmic disorder +GARD:0008600,GARD:0022531,GARD:0019986,GARD:0015227,Rare genetic disease +GARD:0008600,GARD:0022531,GARD:0016822,GARD:0015227,Rare genetic disease +GARD:0008605,GARD:0022530,GARD:0018701,GARD:0016936,Rare allergic disease +GARD:0008605,GARD:0022530,GARD:0018701,GARD:0022196,Rare allergic disease +GARD:0008605,GARD:0022525,GARD:0018701,GARD:0022196,Rare systemic or rheumatologic disease +GARD:0008605,GARD:0022525,GARD:0018701,GARD:0016936,Rare systemic or rheumatologic disease +GARD:0008606,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0008606,GARD:0022508,GARD:0021231,,Rare inborn errors of metabolism +GARD:0008606,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0008606,GARD:0022531,GARD:0021231,,Rare genetic disease +GARD:0008606,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0008609,GARD:0022517,GARD:0013337,GARD:0016098,Rare respiratory disease +GARD:0008609,GARD:0022536,GARD:0013337,GARD:0016097,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008609,GARD:0022517,GARD:0013337,GARD:0016097,Rare respiratory disease +GARD:0008609,GARD:0022536,GARD:0013337,GARD:0016098,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008610,GARD:0022531,GARD:0021802,,Rare genetic disease +GARD:0008610,GARD:0022524,GARD:0021754,,Rare neurologic disease +GARD:0008614,GARD:0022512,GARD:0019231,,Rare renal disease +GARD:0008614,GARD:0022522,GARD:0021024,,Rare hematologic disease +GARD:0008614,GARD:0022524,GARD:0021965,,Rare neurologic disease +GARD:0008614,GARD:0022511,GARD:0021662,,Rare bone disease +GARD:0008614,GARD:0022525,GARD:0021662,,Rare systemic or rheumatologic disease +GARD:0008614,GARD:0022531,GARD:0021662,,Rare genetic disease +GARD:0008614,GARD:0022531,GARD:0021024,,Rare genetic disease +GARD:0008614,GARD:0022531,GARD:0019231,,Rare genetic disease +GARD:0008614,GARD:0022531,GARD:0021965,,Rare genetic disease +GARD:0008614,GARD:0022536,GARD:0021024,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008616,GARD:0022522,GARD:0006987,GARD:0019598,Rare hematologic disease +GARD:0008616,GARD:0022522,GARD:0006987,GARD:0020036,Rare hematologic disease +GARD:0008616,GARD:0022535,GARD:0006987,GARD:0019598,Rare neoplastic disease +GARD:0008616,GARD:0022535,GARD:0006987,GARD:0019596,Rare neoplastic disease +GARD:0008616,GARD:0022522,GARD:0006987,GARD:0019595,Rare hematologic disease +GARD:0008616,GARD:0022535,GARD:0006987,GARD:0020036,Rare neoplastic disease +GARD:0008616,GARD:0022535,GARD:0006987,GARD:0019597,Rare neoplastic disease +GARD:0008616,GARD:0022522,GARD:0006987,GARD:0020037,Rare hematologic disease +GARD:0008616,GARD:0022535,GARD:0006987,GARD:0019595,Rare neoplastic disease +GARD:0008616,GARD:0022522,GARD:0006987,GARD:0019596,Rare hematologic disease +GARD:0008616,GARD:0022522,GARD:0006987,GARD:0019597,Rare hematologic disease +GARD:0008616,GARD:0022535,GARD:0006987,GARD:0020037,Rare neoplastic disease +GARD:0008618,GARD:0022536,GARD:0009319,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008618,GARD:0022535,GARD:0009319,,Rare neoplastic disease +GARD:0008618,GARD:0022522,GARD:0009319,,Rare hematologic disease +GARD:0008618,GARD:0022536,GARD:0020058,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008618,GARD:0022522,GARD:0020058,,Rare hematologic disease +GARD:0008621,GARD:0022535,GARD:0019795,GARD:0015395,Rare neoplastic disease +GARD:0008621,GARD:0022520,GARD:0019795,GARD:0015395,Rare ophthalmic disorder +GARD:0008621,GARD:0022520,GARD:0019795,GARD:0015394,Rare ophthalmic disorder +GARD:0008621,GARD:0022535,GARD:0019795,GARD:0015394,Rare neoplastic disease +GARD:0008622,GARD:0022523,GARD:0021359,,Rare immune disease +GARD:0008623,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0008623,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0008623,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0008623,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0008623,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0008623,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0008623,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0008625,GARD:0022536,GARD:0021406,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008625,GARD:0022531,GARD:0021406,,Rare genetic disease +GARD:0008625,GARD:0022523,GARD:0021406,,Rare immune disease +GARD:0008631,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0008631,GARD:0022531,GARD:0020818,,Rare genetic disease +GARD:0008631,GARD:0022513,GARD:0020818,,Rare developmental defect during embryogenesis +GARD:0008631,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0008638,GARD:0022536,GARD:0012757,GARD:0016863,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008638,GARD:0022522,GARD:0012757,GARD:0016863,Rare hematologic disease +GARD:0008638,GARD:0022535,GARD:0012757,GARD:0017972,Rare neoplastic disease +GARD:0008638,GARD:0022522,GARD:0012757,GARD:0017972,Rare hematologic disease +GARD:0008638,GARD:0022535,GARD:0012757,GARD:0016863,Rare neoplastic disease +GARD:0008638,GARD:0022536,GARD:0012757,GARD:0017972,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008639,GARD:0022524,GARD:0020571,GARD:0022378,Rare neurologic disease +GARD:0008639,GARD:0022520,GARD:0022037,GARD:0022379,Rare ophthalmic disorder +GARD:0008639,GARD:0022520,GARD:0022037,GARD:0022378,Rare ophthalmic disorder +GARD:0008639,GARD:0022524,GARD:0020092,GARD:0022378,Rare neurologic disease +GARD:0008639,GARD:0022524,GARD:0011979,GARD:0022379,Rare neurologic disease +GARD:0008639,GARD:0022524,GARD:0011979,GARD:0022378,Rare neurologic disease +GARD:0008639,GARD:0022524,GARD:0020571,GARD:0022379,Rare neurologic disease +GARD:0008639,GARD:0022524,GARD:0020092,GARD:0022379,Rare neurologic disease +GARD:0008640,GARD:0022520,GARD:0022103,,Rare ophthalmic disorder +GARD:0008644,GARD:0022517,GARD:0020923,,Rare respiratory disease +GARD:0008644,GARD:0022536,GARD:0020923,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008644,GARD:0022531,GARD:0020944,,Rare genetic disease +GARD:0008653,GARD:0022527,GARD:0019984,,Rare circulatory system disease +GARD:0008653,GARD:0022525,GARD:0019984,,Rare systemic or rheumatologic disease +GARD:0008653,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0008659,GARD:0022513,GARD:0018761,,Rare developmental defect during embryogenesis +GARD:0008659,GARD:0022531,GARD:0018761,,Rare genetic disease +GARD:0008659,GARD:0022511,GARD:0018761,,Rare bone disease +GARD:0008660,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0008661,GARD:0022536,GARD:0021578,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008661,GARD:0022516,GARD:0021578,,Rare gastroenterologic disease +GARD:0008661,GARD:0022513,GARD:0019863,,Rare developmental defect during embryogenesis +GARD:0008661,GARD:0022534,GARD:0019863,,Rare abdominal surgical disease +GARD:0008663,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0008663,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0008663,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0008672,GARD:0022513,GARD:0019832,GARD:0016846,Rare developmental defect during embryogenesis +GARD:0008672,GARD:0022513,GARD:0019832,GARD:0017253,Rare developmental defect during embryogenesis +GARD:0008672,GARD:0022524,GARD:0019832,GARD:0017253,Rare neurologic disease +GARD:0008672,GARD:0022531,GARD:0022441,GARD:0016846,Rare genetic disease +GARD:0008672,GARD:0022524,GARD:0019832,GARD:0016846,Rare neurologic disease +GARD:0008672,GARD:0022531,GARD:0022441,GARD:0017253,Rare genetic disease +GARD:0008683,GARD:0022536,GARD:0016526,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008683,GARD:0022531,GARD:0016526,,Rare genetic disease +GARD:0008683,GARD:0022506,GARD:0016526,,Rare hepatic disease +GARD:0008683,GARD:0022508,GARD:0016526,,Rare inborn errors of metabolism +GARD:0008686,GARD:0022536,GARD:0020633,GARD:0016360,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008686,GARD:0022536,GARD:0020633,GARD:0015987,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008686,GARD:0022536,GARD:0020633,GARD:0015361,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008686,GARD:0022523,GARD:0020633,GARD:0015987,Rare immune disease +GARD:0008686,GARD:0022535,GARD:0020131,GARD:0015361,Rare neoplastic disease +GARD:0008686,GARD:0022535,GARD:0020131,GARD:0016360,Rare neoplastic disease +GARD:0008686,GARD:0022522,GARD:0020131,GARD:0016360,Rare hematologic disease +GARD:0008686,GARD:0022522,GARD:0020131,GARD:0015361,Rare hematologic disease +GARD:0008686,GARD:0022523,GARD:0020116,GARD:0015987,Rare immune disease +GARD:0008686,GARD:0022536,GARD:0020116,GARD:0015361,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008686,GARD:0022523,GARD:0020633,GARD:0016360,Rare immune disease +GARD:0008686,GARD:0022536,GARD:0020131,GARD:0015361,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008686,GARD:0022531,GARD:0020116,GARD:0015361,Rare genetic disease +GARD:0008686,GARD:0022523,GARD:0020633,GARD:0015361,Rare immune disease +GARD:0008686,GARD:0022531,GARD:0020116,GARD:0015987,Rare genetic disease +GARD:0008686,GARD:0022535,GARD:0020633,GARD:0016360,Rare neoplastic disease +GARD:0008686,GARD:0022535,GARD:0020633,GARD:0015987,Rare neoplastic disease +GARD:0008686,GARD:0022531,GARD:0020116,GARD:0016360,Rare genetic disease +GARD:0008686,GARD:0022535,GARD:0020131,GARD:0015987,Rare neoplastic disease +GARD:0008686,GARD:0022522,GARD:0020131,GARD:0015987,Rare hematologic disease +GARD:0008686,GARD:0022536,GARD:0020116,GARD:0016360,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008686,GARD:0022531,GARD:0020633,GARD:0015361,Rare genetic disease +GARD:0008686,GARD:0022531,GARD:0020633,GARD:0016360,Rare genetic disease +GARD:0008686,GARD:0022536,GARD:0020131,GARD:0015987,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008686,GARD:0022536,GARD:0020131,GARD:0016360,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008686,GARD:0022531,GARD:0020633,GARD:0015987,Rare genetic disease +GARD:0008686,GARD:0022535,GARD:0020633,GARD:0015361,Rare neoplastic disease +GARD:0008686,GARD:0022536,GARD:0020116,GARD:0015987,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008686,GARD:0022523,GARD:0020116,GARD:0015361,Rare immune disease +GARD:0008686,GARD:0022523,GARD:0020116,GARD:0016360,Rare immune disease +GARD:0008689,GARD:0022516,GARD:0019873,GARD:0022147,Rare gastroenterologic disease +GARD:0008689,GARD:0022516,GARD:0019873,GARD:0022148,Rare gastroenterologic disease +GARD:0008689,GARD:0022516,GARD:0019873,GARD:0017646,Rare gastroenterologic disease +GARD:0008689,GARD:0022516,GARD:0019873,GARD:0017288,Rare gastroenterologic disease +GARD:0008689,GARD:0022516,GARD:0019873,GARD:0000824,Rare gastroenterologic disease +GARD:0008692,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0008694,GARD:0022531,GARD:0022094,GARD:0015100,Rare genetic disease +GARD:0008694,GARD:0022511,GARD:0001017,GARD:0015100,Rare bone disease +GARD:0008694,GARD:0022520,GARD:0022094,GARD:0015100,Rare ophthalmic disorder +GARD:0008694,GARD:0022531,GARD:0001017,GARD:0015100,Rare genetic disease +GARD:0008694,GARD:0022513,GARD:0001017,GARD:0015100,Rare developmental defect during embryogenesis +GARD:0008695,GARD:0022526,GARD:0020095,GARD:0015919,Rare odontologic disease +GARD:0008695,GARD:0022520,GARD:0022094,GARD:0012874,Rare ophthalmic disorder +GARD:0008695,GARD:0022531,GARD:0001017,GARD:0008701,Rare genetic disease +GARD:0008695,GARD:0022531,GARD:0020095,GARD:0012875,Rare genetic disease +GARD:0008695,GARD:0022520,GARD:0022094,GARD:0008700,Rare ophthalmic disorder +GARD:0008695,GARD:0022511,GARD:0001017,GARD:0012874,Rare bone disease +GARD:0008695,GARD:0022511,GARD:0001017,GARD:0010152,Rare bone disease +GARD:0008695,GARD:0022531,GARD:0020095,GARD:0008701,Rare genetic disease +GARD:0008695,GARD:0022531,GARD:0022094,GARD:0015919,Rare genetic disease +GARD:0008695,GARD:0022511,GARD:0001017,GARD:0015919,Rare bone disease +GARD:0008695,GARD:0022526,GARD:0020095,GARD:0010619,Rare odontologic disease +GARD:0008695,GARD:0022531,GARD:0001017,GARD:0016072,Rare genetic disease +GARD:0008695,GARD:0022520,GARD:0022094,GARD:0015919,Rare ophthalmic disorder +GARD:0008695,GARD:0022531,GARD:0022094,GARD:0015856,Rare genetic disease +GARD:0008695,GARD:0022511,GARD:0001017,GARD:0015856,Rare bone disease +GARD:0008695,GARD:0022520,GARD:0022094,GARD:0012875,Rare ophthalmic disorder +GARD:0008695,GARD:0022526,GARD:0020095,GARD:0016072,Rare odontologic disease +GARD:0008695,GARD:0022531,GARD:0022094,GARD:0008700,Rare genetic disease +GARD:0008695,GARD:0022511,GARD:0001017,GARD:0012875,Rare bone disease +GARD:0008695,GARD:0022531,GARD:0020095,GARD:0010619,Rare genetic disease +GARD:0008695,GARD:0022520,GARD:0022094,GARD:0015856,Rare ophthalmic disorder +GARD:0008695,GARD:0022531,GARD:0020095,GARD:0010152,Rare genetic disease +GARD:0008695,GARD:0022531,GARD:0022094,GARD:0010152,Rare genetic disease +GARD:0008695,GARD:0022531,GARD:0001017,GARD:0015919,Rare genetic disease +GARD:0008695,GARD:0022513,GARD:0001017,GARD:0015856,Rare developmental defect during embryogenesis +GARD:0008695,GARD:0022520,GARD:0022094,GARD:0008701,Rare ophthalmic disorder +GARD:0008695,GARD:0022531,GARD:0001017,GARD:0015856,Rare genetic disease +GARD:0008695,GARD:0022511,GARD:0001017,GARD:0016072,Rare bone disease +GARD:0008695,GARD:0022520,GARD:0022094,GARD:0010152,Rare ophthalmic disorder +GARD:0008695,GARD:0022513,GARD:0001017,GARD:0008701,Rare developmental defect during embryogenesis +GARD:0008695,GARD:0022513,GARD:0001017,GARD:0012874,Rare developmental defect during embryogenesis +GARD:0008695,GARD:0022513,GARD:0001017,GARD:0010619,Rare developmental defect during embryogenesis +GARD:0008695,GARD:0022531,GARD:0001017,GARD:0008700,Rare genetic disease +GARD:0008695,GARD:0022531,GARD:0022094,GARD:0012875,Rare genetic disease +GARD:0008695,GARD:0022531,GARD:0022094,GARD:0010619,Rare genetic disease +GARD:0008695,GARD:0022520,GARD:0022094,GARD:0010619,Rare ophthalmic disorder +GARD:0008695,GARD:0022531,GARD:0001017,GARD:0012875,Rare genetic disease +GARD:0008695,GARD:0022526,GARD:0020095,GARD:0012874,Rare odontologic disease +GARD:0008695,GARD:0022526,GARD:0020095,GARD:0012875,Rare odontologic disease +GARD:0008695,GARD:0022513,GARD:0001017,GARD:0010152,Rare developmental defect during embryogenesis +GARD:0008695,GARD:0022513,GARD:0001017,GARD:0015919,Rare developmental defect during embryogenesis +GARD:0008695,GARD:0022520,GARD:0022094,GARD:0016072,Rare ophthalmic disorder +GARD:0008695,GARD:0022531,GARD:0001017,GARD:0012874,Rare genetic disease +GARD:0008695,GARD:0022531,GARD:0001017,GARD:0010152,Rare genetic disease +GARD:0008695,GARD:0022531,GARD:0022094,GARD:0012874,Rare genetic disease +GARD:0008695,GARD:0022513,GARD:0001017,GARD:0016072,Rare developmental defect during embryogenesis +GARD:0008695,GARD:0022531,GARD:0020095,GARD:0015856,Rare genetic disease +GARD:0008695,GARD:0022526,GARD:0020095,GARD:0010152,Rare odontologic disease +GARD:0008695,GARD:0022531,GARD:0020095,GARD:0015919,Rare genetic disease +GARD:0008695,GARD:0022531,GARD:0022094,GARD:0016072,Rare genetic disease +GARD:0008695,GARD:0022513,GARD:0001017,GARD:0008700,Rare developmental defect during embryogenesis +GARD:0008695,GARD:0022526,GARD:0020095,GARD:0008700,Rare odontologic disease +GARD:0008695,GARD:0022531,GARD:0001017,GARD:0010619,Rare genetic disease +GARD:0008695,GARD:0022511,GARD:0001017,GARD:0008701,Rare bone disease +GARD:0008695,GARD:0022513,GARD:0001017,GARD:0012875,Rare developmental defect during embryogenesis +GARD:0008695,GARD:0022511,GARD:0001017,GARD:0010619,Rare bone disease +GARD:0008695,GARD:0022531,GARD:0020095,GARD:0008700,Rare genetic disease +GARD:0008695,GARD:0022526,GARD:0020095,GARD:0015856,Rare odontologic disease +GARD:0008695,GARD:0022511,GARD:0001017,GARD:0008700,Rare bone disease +GARD:0008695,GARD:0022531,GARD:0020095,GARD:0012874,Rare genetic disease +GARD:0008695,GARD:0022531,GARD:0020095,GARD:0016072,Rare genetic disease +GARD:0008695,GARD:0022526,GARD:0020095,GARD:0008701,Rare odontologic disease +GARD:0008695,GARD:0022531,GARD:0022094,GARD:0008701,Rare genetic disease +GARD:0008696,GARD:0022531,GARD:0001017,GARD:0016126,Rare genetic disease +GARD:0008696,GARD:0022531,GARD:0022094,GARD:0015919,Rare genetic disease +GARD:0008696,GARD:0022513,GARD:0001017,GARD:0012875,Rare developmental defect during embryogenesis +GARD:0008696,GARD:0022520,GARD:0022094,GARD:0015919,Rare ophthalmic disorder +GARD:0008696,GARD:0022531,GARD:0001017,GARD:0008701,Rare genetic disease +GARD:0008696,GARD:0022520,GARD:0022094,GARD:0010619,Rare ophthalmic disorder +GARD:0008696,GARD:0022531,GARD:0001017,GARD:0012875,Rare genetic disease +GARD:0008696,GARD:0022531,GARD:0022094,GARD:0008700,Rare genetic disease +GARD:0008696,GARD:0022526,GARD:0020095,GARD:0015919,Rare odontologic disease +GARD:0008696,GARD:0022531,GARD:0020095,GARD:0016126,Rare genetic disease +GARD:0008696,GARD:0022513,GARD:0001017,GARD:0015919,Rare developmental defect during embryogenesis +GARD:0008696,GARD:0022520,GARD:0022094,GARD:0015722,Rare ophthalmic disorder +GARD:0008696,GARD:0022531,GARD:0001017,GARD:0015919,Rare genetic disease +GARD:0008696,GARD:0022513,GARD:0001017,GARD:0008700,Rare developmental defect during embryogenesis +GARD:0008696,GARD:0022531,GARD:0022094,GARD:0015722,Rare genetic disease +GARD:0008696,GARD:0022520,GARD:0022094,GARD:0008700,Rare ophthalmic disorder +GARD:0008696,GARD:0022531,GARD:0022094,GARD:0010619,Rare genetic disease +GARD:0008696,GARD:0022526,GARD:0020095,GARD:0016126,Rare odontologic disease +GARD:0008696,GARD:0022531,GARD:0020095,GARD:0015901,Rare genetic disease +GARD:0008696,GARD:0022531,GARD:0020095,GARD:0012875,Rare genetic disease +GARD:0008696,GARD:0022520,GARD:0022094,GARD:0012875,Rare ophthalmic disorder +GARD:0008696,GARD:0022526,GARD:0020095,GARD:0012875,Rare odontologic disease +GARD:0008696,GARD:0022513,GARD:0001017,GARD:0015901,Rare developmental defect during embryogenesis +GARD:0008696,GARD:0022531,GARD:0001017,GARD:0015722,Rare genetic disease +GARD:0008696,GARD:0022531,GARD:0022094,GARD:0015901,Rare genetic disease +GARD:0008696,GARD:0022531,GARD:0022094,GARD:0008701,Rare genetic disease +GARD:0008696,GARD:0022511,GARD:0001017,GARD:0008700,Rare bone disease +GARD:0008696,GARD:0022511,GARD:0001017,GARD:0016126,Rare bone disease +GARD:0008696,GARD:0022511,GARD:0001017,GARD:0015901,Rare bone disease +GARD:0008696,GARD:0022511,GARD:0001017,GARD:0010619,Rare bone disease +GARD:0008696,GARD:0022511,GARD:0001017,GARD:0015722,Rare bone disease +GARD:0008696,GARD:0022526,GARD:0020095,GARD:0015901,Rare odontologic disease +GARD:0008696,GARD:0022511,GARD:0001017,GARD:0015919,Rare bone disease +GARD:0008696,GARD:0022531,GARD:0001017,GARD:0010619,Rare genetic disease +GARD:0008696,GARD:0022531,GARD:0020095,GARD:0010619,Rare genetic disease +GARD:0008696,GARD:0022531,GARD:0001017,GARD:0008700,Rare genetic disease +GARD:0008696,GARD:0022513,GARD:0001017,GARD:0016126,Rare developmental defect during embryogenesis +GARD:0008696,GARD:0022531,GARD:0001017,GARD:0015901,Rare genetic disease +GARD:0008696,GARD:0022526,GARD:0020095,GARD:0015722,Rare odontologic disease +GARD:0008696,GARD:0022520,GARD:0022094,GARD:0008701,Rare ophthalmic disorder +GARD:0008696,GARD:0022531,GARD:0020095,GARD:0008701,Rare genetic disease +GARD:0008696,GARD:0022531,GARD:0022094,GARD:0016126,Rare genetic disease +GARD:0008696,GARD:0022520,GARD:0022094,GARD:0015901,Rare ophthalmic disorder +GARD:0008696,GARD:0022513,GARD:0001017,GARD:0010619,Rare developmental defect during embryogenesis +GARD:0008696,GARD:0022531,GARD:0020095,GARD:0015919,Rare genetic disease +GARD:0008696,GARD:0022531,GARD:0020095,GARD:0015722,Rare genetic disease +GARD:0008696,GARD:0022513,GARD:0001017,GARD:0008701,Rare developmental defect during embryogenesis +GARD:0008696,GARD:0022520,GARD:0022094,GARD:0016126,Rare ophthalmic disorder +GARD:0008696,GARD:0022511,GARD:0001017,GARD:0008701,Rare bone disease +GARD:0008696,GARD:0022526,GARD:0020095,GARD:0010619,Rare odontologic disease +GARD:0008696,GARD:0022526,GARD:0020095,GARD:0008701,Rare odontologic disease +GARD:0008696,GARD:0022511,GARD:0001017,GARD:0012875,Rare bone disease +GARD:0008696,GARD:0022513,GARD:0001017,GARD:0015722,Rare developmental defect during embryogenesis +GARD:0008696,GARD:0022531,GARD:0022094,GARD:0012875,Rare genetic disease +GARD:0008696,GARD:0022531,GARD:0020095,GARD:0008700,Rare genetic disease +GARD:0008696,GARD:0022526,GARD:0020095,GARD:0008700,Rare odontologic disease +GARD:0008698,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0008698,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0008698,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0008698,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0008698,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0008698,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0008699,GARD:0022513,GARD:0001017,,Rare developmental defect during embryogenesis +GARD:0008699,GARD:0022531,GARD:0001017,,Rare genetic disease +GARD:0008699,GARD:0022511,GARD:0001017,,Rare bone disease +GARD:0008700,GARD:0022531,GARD:0008695,,Rare genetic disease +GARD:0008700,GARD:0022513,GARD:0008696,,Rare developmental defect during embryogenesis +GARD:0008700,GARD:0022513,GARD:0008695,,Rare developmental defect during embryogenesis +GARD:0008700,GARD:0022526,GARD:0008695,,Rare odontologic disease +GARD:0008700,GARD:0022520,GARD:0008696,,Rare ophthalmic disorder +GARD:0008700,GARD:0022520,GARD:0008695,,Rare ophthalmic disorder +GARD:0008700,GARD:0022511,GARD:0008695,,Rare bone disease +GARD:0008700,GARD:0022511,GARD:0008696,,Rare bone disease +GARD:0008700,GARD:0022526,GARD:0008696,,Rare odontologic disease +GARD:0008700,GARD:0022531,GARD:0008696,,Rare genetic disease +GARD:0008701,GARD:0022531,GARD:0008696,,Rare genetic disease +GARD:0008701,GARD:0022520,GARD:0010142,,Rare ophthalmic disorder +GARD:0008701,GARD:0022526,GARD:0008695,,Rare odontologic disease +GARD:0008701,GARD:0022531,GARD:0010142,,Rare genetic disease +GARD:0008701,GARD:0022531,GARD:0008695,,Rare genetic disease +GARD:0008701,GARD:0022511,GARD:0008696,,Rare bone disease +GARD:0008701,GARD:0022526,GARD:0008696,,Rare odontologic disease +GARD:0008701,GARD:0022513,GARD:0010142,,Rare developmental defect during embryogenesis +GARD:0008701,GARD:0022513,GARD:0008695,,Rare developmental defect during embryogenesis +GARD:0008701,GARD:0022520,GARD:0008695,,Rare ophthalmic disorder +GARD:0008701,GARD:0022513,GARD:0008696,,Rare developmental defect during embryogenesis +GARD:0008701,GARD:0022520,GARD:0008696,,Rare ophthalmic disorder +GARD:0008701,GARD:0022511,GARD:0010142,,Rare bone disease +GARD:0008701,GARD:0022511,GARD:0008695,,Rare bone disease +GARD:0008702,GARD:0022522,GARD:0022330,GARD:0017986,Rare hematologic disease +GARD:0008702,GARD:0022512,GARD:0022233,GARD:0017986,Rare renal disease +GARD:0008702,GARD:0022512,GARD:0022233,GARD:0016823,Rare renal disease +GARD:0008702,GARD:0022531,GARD:0022330,GARD:0016823,Rare genetic disease +GARD:0008702,GARD:0022536,GARD:0022233,GARD:0016823,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008702,GARD:0022531,GARD:0022330,GARD:0017986,Rare genetic disease +GARD:0008702,GARD:0022522,GARD:0022330,GARD:0016823,Rare hematologic disease +GARD:0008702,GARD:0022536,GARD:0022233,GARD:0017986,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008703,GARD:0022527,GARD:0019983,,Rare circulatory system disease +GARD:0008703,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0008703,GARD:0022531,GARD:0020281,,Rare genetic disease +GARD:0008703,GARD:0022525,GARD:0019982,,Rare systemic or rheumatologic disease +GARD:0008703,GARD:0022525,GARD:0019983,,Rare systemic or rheumatologic disease +GARD:0008703,GARD:0022527,GARD:0019982,,Rare circulatory system disease +GARD:0008707,GARD:0022513,GARD:0018761,,Rare developmental defect during embryogenesis +GARD:0008707,GARD:0022531,GARD:0018761,,Rare genetic disease +GARD:0008707,GARD:0022511,GARD:0018761,,Rare bone disease +GARD:0008709,GARD:0022511,GARD:0019209,,Rare bone disease +GARD:0008709,GARD:0022531,GARD:0019872,,Rare genetic disease +GARD:0008709,GARD:0022513,GARD:0019209,,Rare developmental defect during embryogenesis +GARD:0008709,GARD:0022513,GARD:0019872,,Rare developmental defect during embryogenesis +GARD:0008709,GARD:0022531,GARD:0019209,,Rare genetic disease +GARD:0008711,GARD:0022531,GARD:0020440,,Rare genetic disease +GARD:0008711,GARD:0022524,GARD:0020440,,Rare neurologic disease +GARD:0008713,GARD:0022511,GARD:0002882,,Rare bone disease +GARD:0008713,GARD:0022531,GARD:0002882,,Rare genetic disease +GARD:0008713,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0008713,GARD:0022513,GARD:0002882,,Rare developmental defect during embryogenesis +GARD:0008717,GARD:0022526,GARD:0020209,,Rare odontologic disease +GARD:0008717,GARD:0022531,GARD:0020209,,Rare genetic disease +GARD:0008717,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0008717,GARD:0022531,GARD:0018685,,Rare genetic disease +GARD:0008717,GARD:0022513,GARD:0020209,,Rare developmental defect during embryogenesis +GARD:0008717,GARD:0022511,GARD:0018685,,Rare bone disease +GARD:0008717,GARD:0022513,GARD:0018685,,Rare developmental defect during embryogenesis +GARD:0008719,GARD:0022531,GARD:0018685,,Rare genetic disease +GARD:0008719,GARD:0022511,GARD:0018685,,Rare bone disease +GARD:0008719,GARD:0022513,GARD:0018685,,Rare developmental defect during embryogenesis +GARD:0008720,GARD:0022513,GARD:0018685,,Rare developmental defect during embryogenesis +GARD:0008720,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0008720,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0008720,GARD:0022531,GARD:0018685,,Rare genetic disease +GARD:0008720,GARD:0022511,GARD:0018685,,Rare bone disease +GARD:0008721,GARD:0022531,GARD:0018721,GARD:0015506,Rare genetic disease +GARD:0008721,GARD:0022531,GARD:0019571,GARD:0015506,Rare genetic disease +GARD:0008721,GARD:0022524,GARD:0018721,GARD:0015506,Rare neurologic disease +GARD:0008722,GARD:0022531,GARD:0018721,GARD:0015510,Rare genetic disease +GARD:0008722,GARD:0022524,GARD:0018721,GARD:0015510,Rare neurologic disease +GARD:0008723,GARD:0022536,GARD:0007132,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008723,GARD:0022535,GARD:0007132,,Rare neoplastic disease +GARD:0008723,GARD:0022522,GARD:0007132,,Rare hematologic disease +GARD:0008732,GARD:0022531,GARD:0010418,GARD:0017057,Rare genetic disease +GARD:0008732,GARD:0022522,GARD:0010418,GARD:0017056,Rare hematologic disease +GARD:0008732,GARD:0022522,GARD:0010418,GARD:0017077,Rare hematologic disease +GARD:0008732,GARD:0022522,GARD:0010418,GARD:0017058,Rare hematologic disease +GARD:0008732,GARD:0022531,GARD:0010418,GARD:0022455,Rare genetic disease +GARD:0008732,GARD:0022522,GARD:0010418,GARD:0017057,Rare hematologic disease +GARD:0008732,GARD:0022522,GARD:0010418,GARD:0022455,Rare hematologic disease +GARD:0008732,GARD:0022531,GARD:0010418,GARD:0017058,Rare genetic disease +GARD:0008732,GARD:0022531,GARD:0010418,GARD:0017056,Rare genetic disease +GARD:0008732,GARD:0022531,GARD:0010418,GARD:0017077,Rare genetic disease +GARD:0008735,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0008735,GARD:0022531,GARD:0006734,,Rare genetic disease +GARD:0008735,GARD:0022513,GARD:0006734,,Rare developmental defect during embryogenesis +GARD:0008735,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0008735,GARD:0022511,GARD:0006734,,Rare bone disease +GARD:0008735,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0008735,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0008737,GARD:0022524,GARD:0018879,,Rare neurologic disease +GARD:0008743,GARD:0022534,GARD:0003436,,Rare abdominal surgical disease +GARD:0008743,GARD:0022536,GARD:0003436,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008743,GARD:0022513,GARD:0003436,,Rare developmental defect during embryogenesis +GARD:0008743,GARD:0022524,GARD:0003436,,Rare neurologic disease +GARD:0008743,GARD:0022531,GARD:0003436,,Rare genetic disease +GARD:0008743,GARD:0022528,GARD:0003436,,Rare otorhinolaryngologic disease +GARD:0008743,GARD:0022511,GARD:0003436,,Rare bone disease +GARD:0008743,GARD:0022507,GARD:0003436,,Rare maxillo-facial surgical disease +GARD:0008743,GARD:0022512,GARD:0003436,,Rare renal disease +GARD:0008743,GARD:0022520,GARD:0003436,,Rare ophthalmic disorder +GARD:0008744,GARD:0022534,GARD:0003436,,Rare abdominal surgical disease +GARD:0008744,GARD:0022512,GARD:0003436,,Rare renal disease +GARD:0008744,GARD:0022520,GARD:0003436,,Rare ophthalmic disorder +GARD:0008744,GARD:0022513,GARD:0003436,,Rare developmental defect during embryogenesis +GARD:0008744,GARD:0022511,GARD:0003436,,Rare bone disease +GARD:0008744,GARD:0022507,GARD:0003436,,Rare maxillo-facial surgical disease +GARD:0008744,GARD:0022536,GARD:0003436,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0008744,GARD:0022528,GARD:0003436,,Rare otorhinolaryngologic disease +GARD:0008744,GARD:0022531,GARD:0003436,,Rare genetic disease +GARD:0008744,GARD:0022524,GARD:0003436,,Rare neurologic disease +GARD:0008754,GARD:0022513,GARD:0008542,,Rare developmental defect during embryogenesis +GARD:0008754,GARD:0022511,GARD:0008542,,Rare bone disease +GARD:0008754,GARD:0022508,GARD:0018969,,Rare inborn errors of metabolism +GARD:0008754,GARD:0022531,GARD:0008542,,Rare genetic disease +GARD:0008754,GARD:0022513,GARD:0018969,,Rare developmental defect during embryogenesis +GARD:0008754,GARD:0022531,GARD:0018969,,Rare genetic disease +GARD:0008755,GARD:0022531,GARD:0021810,,Rare genetic disease +GARD:0008755,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0008755,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0008755,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0008755,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0008756,GARD:0022524,GARD:0020665,,Rare neurologic disease +GARD:0008756,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0008756,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0008756,GARD:0022508,GARD:0018965,,Rare inborn errors of metabolism +GARD:0008756,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0008756,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0008756,GARD:0022531,GARD:0018965,,Rare genetic disease +GARD:0008756,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0008756,GARD:0022531,GARD:0020665,,Rare genetic disease +GARD:0008757,GARD:0022517,GARD:0019794,GARD:0021118,Rare respiratory disease +GARD:0008757,GARD:0022535,GARD:0019794,GARD:0019715,Rare neoplastic disease +GARD:0008757,GARD:0022517,GARD:0019794,GARD:0019715,Rare respiratory disease +GARD:0008757,GARD:0022517,GARD:0019794,GARD:0019717,Rare respiratory disease +GARD:0008757,GARD:0022535,GARD:0019794,GARD:0019716,Rare neoplastic disease +GARD:0008757,GARD:0022535,GARD:0019794,GARD:0010734,Rare neoplastic disease +GARD:0008757,GARD:0022535,GARD:0019794,GARD:0021118,Rare neoplastic disease +GARD:0008757,GARD:0022517,GARD:0019794,GARD:0019716,Rare respiratory disease +GARD:0008757,GARD:0022535,GARD:0019794,GARD:0019717,Rare neoplastic disease +GARD:0008757,GARD:0022517,GARD:0019794,GARD:0010734,Rare respiratory disease +GARD:0008759,GARD:0022520,GARD:0019513,,Rare ophthalmic disorder +GARD:0009118,GARD:0022512,GARD:0019230,GARD:0015655,Rare renal disease +GARD:0009118,GARD:0022536,GARD:0022061,GARD:0015991,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009118,GARD:0022536,GARD:0022061,GARD:0015655,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009118,GARD:0022531,GARD:0020306,GARD:0015655,Rare genetic disease +GARD:0009118,GARD:0022512,GARD:0019230,GARD:0015991,Rare renal disease +GARD:0009118,GARD:0022531,GARD:0020306,GARD:0015991,Rare genetic disease +GARD:0009118,GARD:0022536,GARD:0022061,GARD:0016392,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009118,GARD:0022531,GARD:0020306,GARD:0016392,Rare genetic disease +GARD:0009118,GARD:0022512,GARD:0019230,GARD:0016392,Rare renal disease +GARD:0009119,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0009119,GARD:0022518,GARD:0019867,,Rare surgical thoracic disease +GARD:0009119,GARD:0022513,GARD:0019867,,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022528,GARD:0019145,GARD:0009125,Rare otorhinolaryngologic disease +GARD:0009124,GARD:0022531,GARD:0019145,GARD:0009125,Rare genetic disease +GARD:0009124,GARD:0022531,GARD:0019507,GARD:0009125,Rare genetic disease +GARD:0009124,GARD:0022528,GARD:0019897,GARD:0015698,Rare otorhinolaryngologic disease +GARD:0009124,GARD:0022513,GARD:0019897,GARD:0016396,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022528,GARD:0019980,GARD:0016396,Rare otorhinolaryngologic disease +GARD:0009124,GARD:0022513,GARD:0019907,GARD:0016396,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022528,GARD:0019980,GARD:0015698,Rare otorhinolaryngologic disease +GARD:0009124,GARD:0022528,GARD:0019980,GARD:0009125,Rare otorhinolaryngologic disease +GARD:0009124,GARD:0022513,GARD:0019145,GARD:0009125,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022531,GARD:0019507,GARD:0015698,Rare genetic disease +GARD:0009124,GARD:0022513,GARD:0019145,GARD:0016396,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022513,GARD:0019507,GARD:0015698,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022507,GARD:0019897,GARD:0009125,Rare maxillo-facial surgical disease +GARD:0009124,GARD:0022531,GARD:0019500,GARD:0015698,Rare genetic disease +GARD:0009124,GARD:0022531,GARD:0019980,GARD:0009125,Rare genetic disease +GARD:0009124,GARD:0022507,GARD:0019980,GARD:0009125,Rare maxillo-facial surgical disease +GARD:0009124,GARD:0022513,GARD:0019500,GARD:0016396,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022520,GARD:0019500,GARD:0009125,Rare ophthalmic disorder +GARD:0009124,GARD:0022513,GARD:0019833,GARD:0009125,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022531,GARD:0019980,GARD:0016396,Rare genetic disease +GARD:0009124,GARD:0022520,GARD:0019500,GARD:0015698,Rare ophthalmic disorder +GARD:0009124,GARD:0022531,GARD:0019980,GARD:0015698,Rare genetic disease +GARD:0009124,GARD:0022520,GARD:0019542,GARD:0009125,Rare ophthalmic disorder +GARD:0009124,GARD:0022507,GARD:0019897,GARD:0015698,Rare maxillo-facial surgical disease +GARD:0009124,GARD:0022513,GARD:0019897,GARD:0009125,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022520,GARD:0019506,GARD:0015698,Rare ophthalmic disorder +GARD:0009124,GARD:0022513,GARD:0019506,GARD:0009125,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022531,GARD:0019507,GARD:0016396,Rare genetic disease +GARD:0009124,GARD:0022528,GARD:0019897,GARD:0009125,Rare otorhinolaryngologic disease +GARD:0009124,GARD:0022513,GARD:0019897,GARD:0015698,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022528,GARD:0019145,GARD:0015698,Rare otorhinolaryngologic disease +GARD:0009124,GARD:0022520,GARD:0019500,GARD:0016396,Rare ophthalmic disorder +GARD:0009124,GARD:0022507,GARD:0019980,GARD:0016396,Rare maxillo-facial surgical disease +GARD:0009124,GARD:0022531,GARD:0020301,GARD:0016396,Rare genetic disease +GARD:0009124,GARD:0022513,GARD:0019980,GARD:0015698,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022513,GARD:0019506,GARD:0015698,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022531,GARD:0019500,GARD:0016396,Rare genetic disease +GARD:0009124,GARD:0022531,GARD:0019897,GARD:0015698,Rare genetic disease +GARD:0009124,GARD:0022513,GARD:0019907,GARD:0015698,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022513,GARD:0019145,GARD:0015698,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022513,GARD:0019500,GARD:0009125,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022531,GARD:0020301,GARD:0009125,Rare genetic disease +GARD:0009124,GARD:0022520,GARD:0019542,GARD:0016396,Rare ophthalmic disorder +GARD:0009124,GARD:0022531,GARD:0022157,GARD:0009125,Rare genetic disease +GARD:0009124,GARD:0022513,GARD:0019506,GARD:0016396,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022513,GARD:0019980,GARD:0016396,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022513,GARD:0019507,GARD:0016396,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022531,GARD:0022157,GARD:0016396,Rare genetic disease +GARD:0009124,GARD:0022511,GARD:0019980,GARD:0016396,Rare bone disease +GARD:0009124,GARD:0022511,GARD:0019980,GARD:0009125,Rare bone disease +GARD:0009124,GARD:0022520,GARD:0019506,GARD:0009125,Rare ophthalmic disorder +GARD:0009124,GARD:0022531,GARD:0019897,GARD:0016396,Rare genetic disease +GARD:0009124,GARD:0022531,GARD:0019506,GARD:0015698,Rare genetic disease +GARD:0009124,GARD:0022531,GARD:0019506,GARD:0016396,Rare genetic disease +GARD:0009124,GARD:0022513,GARD:0019833,GARD:0016396,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022513,GARD:0019507,GARD:0009125,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022511,GARD:0019980,GARD:0015698,Rare bone disease +GARD:0009124,GARD:0022528,GARD:0019897,GARD:0016396,Rare otorhinolaryngologic disease +GARD:0009124,GARD:0022520,GARD:0019506,GARD:0016396,Rare ophthalmic disorder +GARD:0009124,GARD:0022513,GARD:0019907,GARD:0009125,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022520,GARD:0019507,GARD:0016396,Rare ophthalmic disorder +GARD:0009124,GARD:0022520,GARD:0019507,GARD:0015698,Rare ophthalmic disorder +GARD:0009124,GARD:0022531,GARD:0021507,GARD:0015698,Rare genetic disease +GARD:0009124,GARD:0022528,GARD:0019145,GARD:0016396,Rare otorhinolaryngologic disease +GARD:0009124,GARD:0022520,GARD:0019542,GARD:0015698,Rare ophthalmic disorder +GARD:0009124,GARD:0022531,GARD:0022157,GARD:0015698,Rare genetic disease +GARD:0009124,GARD:0022513,GARD:0019500,GARD:0015698,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022531,GARD:0021507,GARD:0016396,Rare genetic disease +GARD:0009124,GARD:0022507,GARD:0019980,GARD:0015698,Rare maxillo-facial surgical disease +GARD:0009124,GARD:0022513,GARD:0019980,GARD:0009125,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022507,GARD:0019897,GARD:0016396,Rare maxillo-facial surgical disease +GARD:0009124,GARD:0022531,GARD:0019897,GARD:0009125,Rare genetic disease +GARD:0009124,GARD:0022531,GARD:0020301,GARD:0015698,Rare genetic disease +GARD:0009124,GARD:0022520,GARD:0019507,GARD:0009125,Rare ophthalmic disorder +GARD:0009124,GARD:0022513,GARD:0019833,GARD:0015698,Rare developmental defect during embryogenesis +GARD:0009124,GARD:0022531,GARD:0019145,GARD:0015698,Rare genetic disease +GARD:0009124,GARD:0022531,GARD:0019500,GARD:0009125,Rare genetic disease +GARD:0009124,GARD:0022531,GARD:0019145,GARD:0016396,Rare genetic disease +GARD:0009124,GARD:0022531,GARD:0021507,GARD:0009125,Rare genetic disease +GARD:0009124,GARD:0022531,GARD:0019506,GARD:0009125,Rare genetic disease +GARD:0009125,GARD:0022531,GARD:0009124,,Rare genetic disease +GARD:0009125,GARD:0022511,GARD:0009124,,Rare bone disease +GARD:0009125,GARD:0022520,GARD:0009124,,Rare ophthalmic disorder +GARD:0009125,GARD:0022513,GARD:0009124,,Rare developmental defect during embryogenesis +GARD:0009125,GARD:0022528,GARD:0009124,,Rare otorhinolaryngologic disease +GARD:0009125,GARD:0022507,GARD:0009124,,Rare maxillo-facial surgical disease +GARD:0009126,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009126,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009126,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009128,GARD:0022525,GARD:0020256,GARD:0021496,Rare systemic or rheumatologic disease +GARD:0009128,GARD:0022524,GARD:0020359,GARD:0020351,Rare neurologic disease +GARD:0009128,GARD:0022524,GARD:0020359,GARD:0006263,Rare neurologic disease +GARD:0009128,GARD:0022525,GARD:0020256,GARD:0020352,Rare systemic or rheumatologic disease +GARD:0009128,GARD:0022524,GARD:0020359,GARD:0003896,Rare neurologic disease +GARD:0009128,GARD:0022524,GARD:0020359,GARD:0006351,Rare neurologic disease +GARD:0009128,GARD:0022525,GARD:0020256,GARD:0020663,Rare systemic or rheumatologic disease +GARD:0009128,GARD:0022524,GARD:0020359,GARD:0007425,Rare neurologic disease +GARD:0009128,GARD:0022525,GARD:0020256,GARD:0000735,Rare systemic or rheumatologic disease +GARD:0009128,GARD:0022524,GARD:0020359,GARD:0000735,Rare neurologic disease +GARD:0009128,GARD:0022524,GARD:0020359,GARD:0020352,Rare neurologic disease +GARD:0009128,GARD:0022524,GARD:0020359,GARD:0021496,Rare neurologic disease +GARD:0009128,GARD:0022525,GARD:0020256,GARD:0020351,Rare systemic or rheumatologic disease +GARD:0009128,GARD:0022524,GARD:0020359,GARD:0018837,Rare neurologic disease +GARD:0009128,GARD:0022524,GARD:0020359,GARD:0020664,Rare neurologic disease +GARD:0009128,GARD:0022525,GARD:0020256,GARD:0007425,Rare systemic or rheumatologic disease +GARD:0009128,GARD:0022524,GARD:0020359,GARD:0020663,Rare neurologic disease +GARD:0009128,GARD:0022525,GARD:0020256,GARD:0020664,Rare systemic or rheumatologic disease +GARD:0009128,GARD:0022525,GARD:0020256,GARD:0018837,Rare systemic or rheumatologic disease +GARD:0009128,GARD:0022525,GARD:0020256,GARD:0003896,Rare systemic or rheumatologic disease +GARD:0009128,GARD:0022525,GARD:0020256,GARD:0006263,Rare systemic or rheumatologic disease +GARD:0009128,GARD:0022525,GARD:0020256,GARD:0006351,Rare systemic or rheumatologic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0003843,Rare genetic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0017447,Rare neurologic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0012587,Rare neurologic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0012584,Rare neurologic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0020335,Rare genetic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0004723,Rare neurologic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0012584,Rare genetic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0017447,Rare genetic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0012586,Rare neurologic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0017883,Rare genetic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0020335,Rare neurologic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0022215,Rare genetic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0000873,Rare neurologic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0012585,Rare neurologic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0012585,Rare genetic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0000835,Rare neurologic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0000873,Rare genetic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0012586,Rare genetic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0000835,Rare genetic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0010317,Rare neurologic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0021600,Rare genetic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0004723,Rare genetic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0017883,Rare neurologic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0022215,Rare neurologic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0004769,Rare neurologic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0010317,Rare genetic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0003843,Rare neurologic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0004769,Rare genetic disease +GARD:0009138,GARD:0022531,GARD:0007922,GARD:0012587,Rare genetic disease +GARD:0009138,GARD:0022524,GARD:0007922,GARD:0021600,Rare neurologic disease +GARD:0009142,GARD:0022516,GARD:0019786,,Rare gastroenterologic disease +GARD:0009142,GARD:0022516,GARD:0021714,,Rare gastroenterologic disease +GARD:0009145,GARD:0022512,GARD:0016545,,Rare renal disease +GARD:0009145,GARD:0022531,GARD:0016545,,Rare genetic disease +GARD:0009146,GARD:0022531,GARD:0020523,GARD:0015936,Rare genetic disease +GARD:0009146,GARD:0022513,GARD:0019561,GARD:0015936,Rare developmental defect during embryogenesis +GARD:0009146,GARD:0022513,GARD:0019561,GARD:0015937,Rare developmental defect during embryogenesis +GARD:0009146,GARD:0022531,GARD:0022298,GARD:0015937,Rare genetic disease +GARD:0009146,GARD:0022513,GARD:0006317,GARD:0015937,Rare developmental defect during embryogenesis +GARD:0009146,GARD:0022513,GARD:0006317,GARD:0015936,Rare developmental defect during embryogenesis +GARD:0009146,GARD:0022515,GARD:0020523,GARD:0015937,Rare cardiac disease +GARD:0009146,GARD:0022510,GARD:0022298,GARD:0015937,Rare skin disease +GARD:0009146,GARD:0022527,GARD:0022298,GARD:0015936,Rare circulatory system disease +GARD:0009146,GARD:0022531,GARD:0020523,GARD:0015935,Rare genetic disease +GARD:0009146,GARD:0022513,GARD:0022298,GARD:0015937,Rare developmental defect during embryogenesis +GARD:0009146,GARD:0022536,GARD:0020523,GARD:0015937,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009146,GARD:0022531,GARD:0022441,GARD:0015937,Rare genetic disease +GARD:0009146,GARD:0022524,GARD:0019832,GARD:0015935,Rare neurologic disease +GARD:0009146,GARD:0022527,GARD:0022298,GARD:0015935,Rare circulatory system disease +GARD:0009146,GARD:0022513,GARD:0019561,GARD:0015935,Rare developmental defect during embryogenesis +GARD:0009146,GARD:0022519,GARD:0019561,GARD:0015935,Rare surgical cardiac disease +GARD:0009146,GARD:0022510,GARD:0022298,GARD:0015936,Rare skin disease +GARD:0009146,GARD:0022531,GARD:0022441,GARD:0015935,Rare genetic disease +GARD:0009146,GARD:0022531,GARD:0019561,GARD:0015936,Rare genetic disease +GARD:0009146,GARD:0022513,GARD:0022298,GARD:0015936,Rare developmental defect during embryogenesis +GARD:0009146,GARD:0022531,GARD:0006317,GARD:0015937,Rare genetic disease +GARD:0009146,GARD:0022513,GARD:0022298,GARD:0015935,Rare developmental defect during embryogenesis +GARD:0009146,GARD:0022519,GARD:0019561,GARD:0015937,Rare surgical cardiac disease +GARD:0009146,GARD:0022513,GARD:0019832,GARD:0015937,Rare developmental defect during embryogenesis +GARD:0009146,GARD:0022510,GARD:0006317,GARD:0015936,Rare skin disease +GARD:0009146,GARD:0022513,GARD:0019832,GARD:0015936,Rare developmental defect during embryogenesis +GARD:0009146,GARD:0022513,GARD:0019832,GARD:0015935,Rare developmental defect during embryogenesis +GARD:0009146,GARD:0022531,GARD:0006317,GARD:0015935,Rare genetic disease +GARD:0009146,GARD:0022536,GARD:0020523,GARD:0015936,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009146,GARD:0022531,GARD:0022298,GARD:0015936,Rare genetic disease +GARD:0009146,GARD:0022524,GARD:0019832,GARD:0015936,Rare neurologic disease +GARD:0009146,GARD:0022510,GARD:0022298,GARD:0015935,Rare skin disease +GARD:0009146,GARD:0022531,GARD:0020523,GARD:0015937,Rare genetic disease +GARD:0009146,GARD:0022519,GARD:0019561,GARD:0015936,Rare surgical cardiac disease +GARD:0009146,GARD:0022515,GARD:0020523,GARD:0015936,Rare cardiac disease +GARD:0009146,GARD:0022531,GARD:0022441,GARD:0015936,Rare genetic disease +GARD:0009146,GARD:0022531,GARD:0019561,GARD:0015935,Rare genetic disease +GARD:0009146,GARD:0022531,GARD:0022298,GARD:0015935,Rare genetic disease +GARD:0009146,GARD:0022515,GARD:0020523,GARD:0015935,Rare cardiac disease +GARD:0009146,GARD:0022513,GARD:0006317,GARD:0015935,Rare developmental defect during embryogenesis +GARD:0009146,GARD:0022531,GARD:0006317,GARD:0015936,Rare genetic disease +GARD:0009146,GARD:0022536,GARD:0020523,GARD:0015935,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009146,GARD:0022510,GARD:0006317,GARD:0015937,Rare skin disease +GARD:0009146,GARD:0022527,GARD:0022298,GARD:0015937,Rare circulatory system disease +GARD:0009146,GARD:0022510,GARD:0006317,GARD:0015935,Rare skin disease +GARD:0009146,GARD:0022524,GARD:0019832,GARD:0015937,Rare neurologic disease +GARD:0009146,GARD:0022531,GARD:0019561,GARD:0015937,Rare genetic disease +GARD:0009149,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0009149,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0009149,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0009151,GARD:0022508,GARD:0010954,,Rare inborn errors of metabolism +GARD:0009151,GARD:0022531,GARD:0010954,,Rare genetic disease +GARD:0009152,GARD:0022531,GARD:0019150,,Rare genetic disease +GARD:0009152,GARD:0022521,GARD:0001467,,Rare endocrine disease +GARD:0009152,GARD:0022521,GARD:0019150,,Rare endocrine disease +GARD:0009152,GARD:0022514,GARD:0019150,,Rare gynecologic or obstetric disease +GARD:0009152,GARD:0022513,GARD:0019150,,Rare developmental defect during embryogenesis +GARD:0009152,GARD:0022536,GARD:0019150,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009152,GARD:0022521,GARD:0019148,,Rare endocrine disease +GARD:0009152,GARD:0022532,GARD:0019150,,Rare urogenital disease +GARD:0009152,GARD:0022531,GARD:0019148,,Rare genetic disease +GARD:0009152,GARD:0022513,GARD:0019148,,Rare developmental defect during embryogenesis +GARD:0009152,GARD:0022531,GARD:0001467,,Rare genetic disease +GARD:0009152,GARD:0022532,GARD:0019148,,Rare urogenital disease +GARD:0009152,GARD:0022514,GARD:0019148,,Rare gynecologic or obstetric disease +GARD:0009156,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009156,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009156,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009157,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009157,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009157,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009158,GARD:0022524,GARD:0020363,,Rare neurologic disease +GARD:0009158,GARD:0022531,GARD:0020363,,Rare genetic disease +GARD:0009158,GARD:0022531,GARD:0020438,,Rare genetic disease +GARD:0009159,GARD:0022532,GARD:0005068,,Rare urogenital disease +GARD:0009159,GARD:0022529,GARD:0017211,,Rare infertility +GARD:0009159,GARD:0022521,GARD:0017211,,Rare endocrine disease +GARD:0009159,GARD:0022513,GARD:0005068,,Rare developmental defect during embryogenesis +GARD:0009159,GARD:0022531,GARD:0017211,,Rare genetic disease +GARD:0009159,GARD:0022536,GARD:0005068,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009159,GARD:0022532,GARD:0017211,,Rare urogenital disease +GARD:0009159,GARD:0022513,GARD:0017211,,Rare developmental defect during embryogenesis +GARD:0009159,GARD:0022515,GARD:0005068,,Rare cardiac disease +GARD:0009159,GARD:0022514,GARD:0017211,,Rare gynecologic or obstetric disease +GARD:0009159,GARD:0022536,GARD:0017211,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009159,GARD:0022514,GARD:0005068,,Rare gynecologic or obstetric disease +GARD:0009159,GARD:0022521,GARD:0005068,,Rare endocrine disease +GARD:0009159,GARD:0022531,GARD:0005068,,Rare genetic disease +GARD:0009161,GARD:0022524,GARD:0016621,,Rare neurologic disease +GARD:0009161,GARD:0022531,GARD:0016621,,Rare genetic disease +GARD:0009161,GARD:0022520,GARD:0016621,,Rare ophthalmic disorder +GARD:0009161,GARD:0022508,GARD:0016621,,Rare inborn errors of metabolism +GARD:0009163,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009163,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0009163,GARD:0022531,GARD:0020115,,Rare genetic disease +GARD:0009163,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0009163,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009163,GARD:0022523,GARD:0020115,,Rare immune disease +GARD:0009163,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009163,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0009164,GARD:0022524,GARD:0020363,GARD:0009165,Rare neurologic disease +GARD:0009164,GARD:0022531,GARD:0020363,GARD:0009165,Rare genetic disease +GARD:0009164,GARD:0022531,GARD:0020394,GARD:0009165,Rare genetic disease +GARD:0009165,GARD:0022524,GARD:0009164,,Rare neurologic disease +GARD:0009165,GARD:0022531,GARD:0009164,,Rare genetic disease +GARD:0009166,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0009166,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0009167,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0009167,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0009168,GARD:0022531,GARD:0019204,,Rare genetic disease +GARD:0009168,GARD:0022511,GARD:0019204,,Rare bone disease +GARD:0009168,GARD:0022513,GARD:0019204,,Rare developmental defect during embryogenesis +GARD:0009169,GARD:0022525,GARD:0017741,,Rare systemic or rheumatologic disease +GARD:0009169,GARD:0022524,GARD:0017741,,Rare neurologic disease +GARD:0009169,GARD:0022531,GARD:0017741,,Rare genetic disease +GARD:0009169,GARD:0022536,GARD:0017741,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009170,GARD:0022531,GARD:0021987,GARD:0016335,Rare genetic disease +GARD:0009170,GARD:0022510,GARD:0018995,GARD:0015423,Rare skin disease +GARD:0009170,GARD:0022531,GARD:0021987,GARD:0015781,Rare genetic disease +GARD:0009170,GARD:0022531,GARD:0021987,GARD:0008178,Rare genetic disease +GARD:0009170,GARD:0022531,GARD:0021987,GARD:0015423,Rare genetic disease +GARD:0009170,GARD:0022531,GARD:0021987,GARD:0015247,Rare genetic disease +GARD:0009170,GARD:0022510,GARD:0018995,GARD:0015782,Rare skin disease +GARD:0009170,GARD:0022510,GARD:0018995,GARD:0015247,Rare skin disease +GARD:0009170,GARD:0022510,GARD:0018995,GARD:0015900,Rare skin disease +GARD:0009170,GARD:0022510,GARD:0018995,GARD:0016335,Rare skin disease +GARD:0009170,GARD:0022510,GARD:0018995,GARD:0008178,Rare skin disease +GARD:0009170,GARD:0022531,GARD:0021987,GARD:0016027,Rare genetic disease +GARD:0009170,GARD:0022510,GARD:0018995,GARD:0015781,Rare skin disease +GARD:0009170,GARD:0022510,GARD:0018995,GARD:0016027,Rare skin disease +GARD:0009170,GARD:0022531,GARD:0021987,GARD:0015900,Rare genetic disease +GARD:0009170,GARD:0022531,GARD:0021987,GARD:0015782,Rare genetic disease +GARD:0009172,GARD:0022531,GARD:0015016,,Rare genetic disease +GARD:0009172,GARD:0022510,GARD:0015016,,Rare skin disease +GARD:0009173,GARD:0022510,GARD:0015016,,Rare skin disease +GARD:0009173,GARD:0022531,GARD:0015016,,Rare genetic disease +GARD:0009174,GARD:0022531,GARD:0019546,,Rare genetic disease +GARD:0009174,GARD:0022524,GARD:0022077,,Rare neurologic disease +GARD:0009174,GARD:0022524,GARD:0011899,,Rare neurologic disease +GARD:0009174,GARD:0022531,GARD:0022077,,Rare genetic disease +GARD:0009174,GARD:0022520,GARD:0019546,,Rare ophthalmic disorder +GARD:0009174,GARD:0022531,GARD:0011899,,Rare genetic disease +GARD:0009175,GARD:0022524,GARD:0021261,GARD:0010359,Rare neurologic disease +GARD:0009175,GARD:0022531,GARD:0021284,GARD:0010359,Rare genetic disease +GARD:0009176,GARD:0022531,GARD:0022488,,Rare genetic disease +GARD:0009176,GARD:0022525,GARD:0021454,,Rare systemic or rheumatologic disease +GARD:0009176,GARD:0022523,GARD:0021161,,Rare immune disease +GARD:0009176,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0009176,GARD:0022531,GARD:0021161,,Rare genetic disease +GARD:0009176,GARD:0021079,GARD:0021459,,Rare systemic or rheumatological disease of childhood +GARD:0009177,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0009177,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0009177,GARD:0022513,GARD:0012643,,Rare developmental defect during embryogenesis +GARD:0009177,GARD:0022531,GARD:0012643,,Rare genetic disease +GARD:0009178,GARD:0022531,GARD:0020555,,Rare genetic disease +GARD:0009178,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0009178,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009178,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0009178,GARD:0022524,GARD:0020556,,Rare neurologic disease +GARD:0009178,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0009178,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009178,GARD:0022524,GARD:0020555,,Rare neurologic disease +GARD:0009178,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009178,GARD:0022531,GARD:0020556,,Rare genetic disease +GARD:0009179,GARD:0022520,GARD:0022097,,Rare ophthalmic disorder +GARD:0009179,GARD:0022531,GARD:0022097,,Rare genetic disease +GARD:0009180,GARD:0022536,GARD:0012736,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009180,GARD:0022512,GARD:0012736,,Rare renal disease +GARD:0009181,GARD:0022531,GARD:0020628,GARD:0016493,Rare genetic disease +GARD:0009181,GARD:0022531,GARD:0020628,GARD:0016494,Rare genetic disease +GARD:0009181,GARD:0022531,GARD:0020628,GARD:0016491,Rare genetic disease +GARD:0009181,GARD:0022527,GARD:0020628,GARD:0016494,Rare circulatory system disease +GARD:0009181,GARD:0022527,GARD:0020628,GARD:0016491,Rare circulatory system disease +GARD:0009181,GARD:0022527,GARD:0020628,GARD:0016493,Rare circulatory system disease +GARD:0009181,GARD:0022527,GARD:0020628,GARD:0016492,Rare circulatory system disease +GARD:0009181,GARD:0022531,GARD:0020628,GARD:0016492,Rare genetic disease +GARD:0009182,GARD:0022531,GARD:0019874,GARD:0020787,Rare genetic disease +GARD:0009182,GARD:0022520,GARD:0019542,GARD:0020787,Rare ophthalmic disorder +GARD:0009182,GARD:0022531,GARD:0022157,GARD:0020787,Rare genetic disease +GARD:0009182,GARD:0022534,GARD:0019874,GARD:0020787,Rare abdominal surgical disease +GARD:0009182,GARD:0022534,GARD:0019874,GARD:0020788,Rare abdominal surgical disease +GARD:0009182,GARD:0022531,GARD:0019874,GARD:0020788,Rare genetic disease +GARD:0009182,GARD:0022531,GARD:0021727,GARD:0020787,Rare genetic disease +GARD:0009182,GARD:0022513,GARD:0021186,GARD:0020788,Rare developmental defect during embryogenesis +GARD:0009182,GARD:0022531,GARD:0021727,GARD:0020788,Rare genetic disease +GARD:0009182,GARD:0022536,GARD:0019874,GARD:0020787,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009182,GARD:0022513,GARD:0019874,GARD:0020788,Rare developmental defect during embryogenesis +GARD:0009182,GARD:0022531,GARD:0022157,GARD:0020788,Rare genetic disease +GARD:0009182,GARD:0022513,GARD:0021186,GARD:0020787,Rare developmental defect during embryogenesis +GARD:0009182,GARD:0022511,GARD:0021186,GARD:0020788,Rare bone disease +GARD:0009182,GARD:0022536,GARD:0019874,GARD:0020788,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009182,GARD:0022511,GARD:0021186,GARD:0020787,Rare bone disease +GARD:0009182,GARD:0022513,GARD:0019874,GARD:0020787,Rare developmental defect during embryogenesis +GARD:0009182,GARD:0022520,GARD:0019542,GARD:0020788,Rare ophthalmic disorder +GARD:0009184,GARD:0022513,GARD:0022020,,Rare developmental defect during embryogenesis +GARD:0009184,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0009184,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0009184,GARD:0022511,GARD:0022020,,Rare bone disease +GARD:0009184,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0009184,GARD:0022531,GARD:0022020,,Rare genetic disease +GARD:0009185,GARD:0022531,GARD:0021422,,Rare genetic disease +GARD:0009185,GARD:0022523,GARD:0021422,,Rare immune disease +GARD:0009189,GARD:0022531,GARD:0012433,,Rare genetic disease +GARD:0009189,GARD:0022524,GARD:0012433,,Rare neurologic disease +GARD:0009190,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0009190,GARD:0022524,GARD:0012433,,Rare neurologic disease +GARD:0009190,GARD:0022531,GARD:0012433,,Rare genetic disease +GARD:0009190,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0009190,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0009191,GARD:0022531,GARD:0012433,,Rare genetic disease +GARD:0009191,GARD:0022524,GARD:0012433,,Rare neurologic disease +GARD:0009192,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0009192,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0009193,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0009193,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0009194,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0009194,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0009195,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0009195,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0009196,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0009196,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0009197,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0009197,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0009198,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0009198,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0009199,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0009199,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0009200,GARD:0022524,GARD:0012440,,Rare neurologic disease +GARD:0009200,GARD:0022531,GARD:0012440,,Rare genetic disease +GARD:0009201,GARD:0022531,GARD:0012440,,Rare genetic disease +GARD:0009201,GARD:0022524,GARD:0012440,,Rare neurologic disease +GARD:0009203,GARD:0022531,GARD:0012440,,Rare genetic disease +GARD:0009203,GARD:0022524,GARD:0012440,,Rare neurologic disease +GARD:0009204,GARD:0022531,GARD:0019923,,Rare genetic disease +GARD:0009204,GARD:0022524,GARD:0019923,,Rare neurologic disease +GARD:0009204,GARD:0022524,GARD:0019925,,Rare neurologic disease +GARD:0009204,GARD:0022531,GARD:0019925,,Rare genetic disease +GARD:0009206,GARD:0022524,GARD:0012436,,Rare neurologic disease +GARD:0009206,GARD:0022531,GARD:0012436,,Rare genetic disease +GARD:0009207,GARD:0022524,GARD:0012436,,Rare neurologic disease +GARD:0009207,GARD:0022531,GARD:0012436,,Rare genetic disease +GARD:0009208,GARD:0022524,GARD:0019924,,Rare neurologic disease +GARD:0009208,GARD:0022531,GARD:0019924,,Rare genetic disease +GARD:0009210,GARD:0022531,GARD:0021231,,Rare genetic disease +GARD:0009210,GARD:0022522,GARD:0019453,,Rare hematologic disease +GARD:0009210,GARD:0022531,GARD:0020312,,Rare genetic disease +GARD:0009210,GARD:0022508,GARD:0021231,,Rare inborn errors of metabolism +GARD:0009210,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0009210,GARD:0022531,GARD:0019464,,Rare genetic disease +GARD:0009210,GARD:0022522,GARD:0019464,,Rare hematologic disease +GARD:0009210,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0009210,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0009210,GARD:0022521,GARD:0020217,,Rare endocrine disease +GARD:0009210,GARD:0022531,GARD:0019453,,Rare genetic disease +GARD:0009212,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0009212,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0009212,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0009217,GARD:0022513,GARD:0020465,,Rare developmental defect during embryogenesis +GARD:0009217,GARD:0022527,GARD:0020465,,Rare circulatory system disease +GARD:0009225,GARD:0022511,GARD:0019212,GARD:0009863,Rare bone disease +GARD:0009225,GARD:0022531,GARD:0019212,GARD:0009863,Rare genetic disease +GARD:0009225,GARD:0022513,GARD:0019212,GARD:0009863,Rare developmental defect during embryogenesis +GARD:0009228,GARD:0022536,GARD:0019217,GARD:0016804,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009228,GARD:0022513,GARD:0019217,GARD:0016579,Rare developmental defect during embryogenesis +GARD:0009228,GARD:0022536,GARD:0019217,GARD:0016579,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009228,GARD:0022513,GARD:0019217,GARD:0016804,Rare developmental defect during embryogenesis +GARD:0009228,GARD:0022531,GARD:0021540,GARD:0016804,Rare genetic disease +GARD:0009228,GARD:0022512,GARD:0019217,GARD:0016804,Rare renal disease +GARD:0009228,GARD:0022531,GARD:0021540,GARD:0016579,Rare genetic disease +GARD:0009228,GARD:0022512,GARD:0019217,GARD:0016579,Rare renal disease +GARD:0009232,GARD:0022513,GARD:0020958,,Rare developmental defect during embryogenesis +GARD:0009232,GARD:0022524,GARD:0020958,,Rare neurologic disease +GARD:0009232,GARD:0022531,GARD:0020958,,Rare genetic disease +GARD:0009233,GARD:0022531,GARD:0020974,,Rare genetic disease +GARD:0009233,GARD:0022513,GARD:0020974,,Rare developmental defect during embryogenesis +GARD:0009233,GARD:0022524,GARD:0020974,,Rare neurologic disease +GARD:0009237,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0009237,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0009239,GARD:0022524,GARD:0019484,,Rare neurologic disease +GARD:0009242,GARD:0022531,GARD:0018915,GARD:0015922,Rare genetic disease +GARD:0009242,GARD:0022524,GARD:0018879,GARD:0015922,Rare neurologic disease +GARD:0009242,GARD:0022531,GARD:0018915,GARD:0015368,Rare genetic disease +GARD:0009242,GARD:0022524,GARD:0018879,GARD:0016165,Rare neurologic disease +GARD:0009242,GARD:0022524,GARD:0018879,GARD:0015368,Rare neurologic disease +GARD:0009242,GARD:0022531,GARD:0018915,GARD:0016165,Rare genetic disease +GARD:0009247,GARD:0022535,GARD:0021245,,Rare neoplastic disease +GARD:0009247,GARD:0022522,GARD:0021245,,Rare hematologic disease +GARD:0009247,GARD:0022535,GARD:0019830,,Rare neoplastic disease +GARD:0009247,GARD:0022535,GARD:0021147,,Rare neoplastic disease +GARD:0009247,GARD:0022536,GARD:0021245,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009252,GARD:0022520,GARD:0021101,,Rare ophthalmic disorder +GARD:0009252,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0016241,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0016232,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0016223,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0016224,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0016223,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0010933,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0015456,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0016225,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0015456,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0015298,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0016225,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0016218,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0015699,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0016445,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0018617,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0016223,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0010933,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0010933,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0013378,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0016232,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0016232,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0015456,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0016223,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0016363,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0013378,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0016093,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0016218,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0018617,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0016224,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0016445,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0016224,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0012900,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0016241,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0016218,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0013378,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0016223,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0010933,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0015699,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0016363,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0012900,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0016225,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0018617,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0018617,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0016223,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0016224,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0016223,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0016363,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0016363,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0016225,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0016241,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0016093,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0016223,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0016363,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0015699,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0016093,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0015699,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0016218,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0015456,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0012900,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0015456,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0016093,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0016224,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0015456,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0016445,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0016445,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0015699,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0016232,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0016241,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0016224,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0016225,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0016218,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0016218,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0013378,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0015298,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0012900,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0015699,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0016225,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0016232,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0012900,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0016093,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0015456,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0015298,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0010933,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0015699,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0015456,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0016218,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0016225,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0013378,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0016445,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0010933,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0016241,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0016241,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0012900,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0013378,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0018617,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0016093,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0016241,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0015456,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0016232,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0016224,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0016232,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0015298,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0018617,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0016218,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0015298,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0013378,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0015699,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0015456,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0015699,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0016363,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0016224,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0016241,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0016241,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0015298,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0016225,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0016223,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0016093,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0016218,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0012900,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0016445,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0015298,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0016224,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0010933,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0016445,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0016363,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0013378,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0016232,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0016224,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0012900,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0016232,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0016093,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0016225,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0016093,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0015298,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0018617,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0010933,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0010933,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0016445,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0013378,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0016363,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0015298,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0022440,GARD:0016218,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0016232,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0016241,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0020241,GARD:0015699,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0022440,GARD:0018617,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0016223,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0013378,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020241,GARD:0018617,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0016445,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0015298,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0016225,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019435,GARD:0010933,Rare genetic disease +GARD:0009255,GARD:0022531,GARD:0019569,GARD:0016363,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0016093,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0019571,GARD:0018617,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0016445,Rare neurologic disease +GARD:0009255,GARD:0022531,GARD:0020242,GARD:0016363,Rare genetic disease +GARD:0009255,GARD:0022524,GARD:0019435,GARD:0012900,Rare neurologic disease +GARD:0009255,GARD:0022524,GARD:0020242,GARD:0012900,Rare neurologic disease +GARD:0009257,GARD:0022524,GARD:0020017,,Rare neurologic disease +GARD:0009258,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0009265,GARD:0022531,GARD:0018957,,Rare genetic disease +GARD:0009265,GARD:0022508,GARD:0018957,,Rare inborn errors of metabolism +GARD:0009265,GARD:0022531,GARD:0020559,,Rare genetic disease +GARD:0009265,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0009265,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0009265,GARD:0022524,GARD:0020559,,Rare neurologic disease +GARD:0009266,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0009266,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0009266,GARD:0022521,GARD:0019768,,Rare endocrine disease +GARD:0009266,GARD:0022535,GARD:0019768,,Rare neoplastic disease +GARD:0009266,GARD:0022535,GARD:0021145,,Rare neoplastic disease +GARD:0009268,GARD:0022531,GARD:0015019,,Rare genetic disease +GARD:0009268,GARD:0022536,GARD:0015019,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009268,GARD:0022512,GARD:0015019,,Rare renal disease +GARD:0009275,GARD:0022520,GARD:0019518,,Rare ophthalmic disorder +GARD:0009275,GARD:0022531,GARD:0022177,,Rare genetic disease +GARD:0009276,GARD:0022520,GARD:0019518,,Rare ophthalmic disorder +GARD:0009276,GARD:0022531,GARD:0022177,,Rare genetic disease +GARD:0009277,GARD:0022531,GARD:0019519,,Rare genetic disease +GARD:0009277,GARD:0022520,GARD:0019519,,Rare ophthalmic disorder +GARD:0009278,GARD:0022520,GARD:0019519,,Rare ophthalmic disorder +GARD:0009278,GARD:0022531,GARD:0019519,,Rare genetic disease +GARD:0009279,GARD:0022531,GARD:0019463,,Rare genetic disease +GARD:0009279,GARD:0022508,GARD:0021131,,Rare inborn errors of metabolism +GARD:0009279,GARD:0022531,GARD:0021131,,Rare genetic disease +GARD:0009279,GARD:0022522,GARD:0019463,,Rare hematologic disease +GARD:0009280,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0009280,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0009280,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0009280,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0009280,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0009281,GARD:0022535,GARD:0019921,GARD:0018472,Rare neoplastic disease +GARD:0009281,GARD:0022535,GARD:0019921,GARD:0018473,Rare neoplastic disease +GARD:0009281,GARD:0022510,GARD:0019014,GARD:0018472,Rare skin disease +GARD:0009281,GARD:0022535,GARD:0019014,GARD:0018473,Rare neoplastic disease +GARD:0009281,GARD:0022531,GARD:0020276,GARD:0018472,Rare genetic disease +GARD:0009281,GARD:0022531,GARD:0019921,GARD:0018472,Rare genetic disease +GARD:0009281,GARD:0022531,GARD:0019921,GARD:0018473,Rare genetic disease +GARD:0009281,GARD:0022510,GARD:0019014,GARD:0018473,Rare skin disease +GARD:0009281,GARD:0022531,GARD:0020276,GARD:0018473,Rare genetic disease +GARD:0009281,GARD:0022535,GARD:0019014,GARD:0018472,Rare neoplastic disease +GARD:0009282,GARD:0022531,GARD:0019469,,Rare genetic disease +GARD:0009282,GARD:0022522,GARD:0019469,,Rare hematologic disease +GARD:0009283,GARD:0022524,GARD:0019414,,Rare neurologic disease +GARD:0009283,GARD:0022524,GARD:0010423,,Rare neurologic disease +GARD:0009283,GARD:0022508,GARD:0010423,,Rare inborn errors of metabolism +GARD:0009283,GARD:0022520,GARD:0022115,,Rare ophthalmic disorder +GARD:0009283,GARD:0022531,GARD:0010423,,Rare genetic disease +GARD:0009283,GARD:0022531,GARD:0019414,,Rare genetic disease +GARD:0009283,GARD:0022531,GARD:0022150,,Rare genetic disease +GARD:0009285,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0009285,GARD:0022520,GARD:0022085,,Rare ophthalmic disorder +GARD:0009287,GARD:0022507,GARD:0019898,,Rare maxillo-facial surgical disease +GARD:0009287,GARD:0022513,GARD:0019898,,Rare developmental defect during embryogenesis +GARD:0009287,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0009287,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0009287,GARD:0022528,GARD:0019898,,Rare otorhinolaryngologic disease +GARD:0009287,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0009287,GARD:0022531,GARD:0019898,,Rare genetic disease +GARD:0009287,GARD:0022531,GARD:0019190,,Rare genetic disease +GARD:0009288,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009288,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009288,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009292,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0009292,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009292,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0009292,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009292,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0009292,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0009292,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0009292,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009294,GARD:0022531,GARD:0016547,GARD:0022382,Rare genetic disease +GARD:0009294,GARD:0022515,GARD:0016547,GARD:0022380,Rare cardiac disease +GARD:0009294,GARD:0022524,GARD:0010248,GARD:0022380,Rare neurologic disease +GARD:0009294,GARD:0022531,GARD:0010248,GARD:0022380,Rare genetic disease +GARD:0009294,GARD:0022531,GARD:0016547,GARD:0022381,Rare genetic disease +GARD:0009294,GARD:0022524,GARD:0010248,GARD:0022382,Rare neurologic disease +GARD:0009294,GARD:0022531,GARD:0010248,GARD:0022382,Rare genetic disease +GARD:0009294,GARD:0022531,GARD:0010248,GARD:0022381,Rare genetic disease +GARD:0009294,GARD:0022515,GARD:0016547,GARD:0022382,Rare cardiac disease +GARD:0009294,GARD:0022531,GARD:0016547,GARD:0022380,Rare genetic disease +GARD:0009294,GARD:0022515,GARD:0016547,GARD:0022381,Rare cardiac disease +GARD:0009294,GARD:0022524,GARD:0010248,GARD:0022381,Rare neurologic disease +GARD:0009295,GARD:0022531,GARD:0000085,,Rare genetic disease +GARD:0009295,GARD:0022511,GARD:0000085,,Rare bone disease +GARD:0009295,GARD:0022513,GARD:0000085,,Rare developmental defect during embryogenesis +GARD:0009296,GARD:0022524,GARD:0019773,,Rare neurologic disease +GARD:0009296,GARD:0022531,GARD:0019773,,Rare genetic disease +GARD:0009297,GARD:0022536,GARD:0021508,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009297,GARD:0022531,GARD:0021508,,Rare genetic disease +GARD:0009297,GARD:0022531,GARD:0021509,,Rare genetic disease +GARD:0009297,GARD:0022523,GARD:0021509,,Rare immune disease +GARD:0009297,GARD:0022523,GARD:0021508,,Rare immune disease +GARD:0009298,GARD:0022508,GARD:0018966,,Rare inborn errors of metabolism +GARD:0009298,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0009298,GARD:0022524,GARD:0020557,,Rare neurologic disease +GARD:0009298,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009298,GARD:0022531,GARD:0020557,,Rare genetic disease +GARD:0009298,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009298,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0009298,GARD:0022531,GARD:0018966,,Rare genetic disease +GARD:0009299,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0009304,GARD:0022506,GARD:0018850,GARD:0015992,Rare hepatic disease +GARD:0009304,GARD:0022535,GARD:0018850,GARD:0015992,Rare neoplastic disease +GARD:0009304,GARD:0022535,GARD:0021786,GARD:0015992,Rare neoplastic disease +GARD:0009304,GARD:0022506,GARD:0021786,GARD:0015992,Rare hepatic disease +GARD:0009304,GARD:0022536,GARD:0018850,GARD:0015992,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009304,GARD:0022536,GARD:0021786,GARD:0015992,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009316,GARD:0022521,GARD:0022521,GARD:0002437,Rare endocrine disease +GARD:0009316,GARD:0022535,GARD:0020254,GARD:0019768,Rare neoplastic disease +GARD:0009316,GARD:0022521,GARD:0022521,GARD:0005994,Rare endocrine disease +GARD:0009316,GARD:0022535,GARD:0020254,GARD:0005994,Rare neoplastic disease +GARD:0009316,GARD:0022535,GARD:0020254,GARD:0002437,Rare neoplastic disease +GARD:0009316,GARD:0022521,GARD:0022521,GARD:0019768,Rare endocrine disease +GARD:0009318,GARD:0022535,GARD:0021064,,Rare neoplastic disease +GARD:0009318,GARD:0022524,GARD:0019406,,Rare neurologic disease +GARD:0009318,GARD:0022535,GARD:0021147,,Rare neoplastic disease +GARD:0009318,GARD:0022536,GARD:0021064,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009318,GARD:0022522,GARD:0021064,,Rare hematologic disease +GARD:0009318,GARD:0022535,GARD:0019406,,Rare neoplastic disease +GARD:0009319,GARD:0022522,GARD:0020130,GARD:0006105,Rare hematologic disease +GARD:0009319,GARD:0022535,GARD:0020130,GARD:0002804,Rare neoplastic disease +GARD:0009319,GARD:0022535,GARD:0020130,GARD:0006105,Rare neoplastic disease +GARD:0009319,GARD:0022522,GARD:0020130,GARD:0016764,Rare hematologic disease +GARD:0009319,GARD:0022535,GARD:0020130,GARD:0017890,Rare neoplastic disease +GARD:0009319,GARD:0022536,GARD:0020130,GARD:0007422,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009319,GARD:0022536,GARD:0020130,GARD:0010585,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009319,GARD:0022536,GARD:0020130,GARD:0002804,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009319,GARD:0022522,GARD:0020130,GARD:0008618,Rare hematologic disease +GARD:0009319,GARD:0022536,GARD:0020130,GARD:0008618,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009319,GARD:0022522,GARD:0020130,GARD:0010585,Rare hematologic disease +GARD:0009319,GARD:0022535,GARD:0020130,GARD:0016764,Rare neoplastic disease +GARD:0009319,GARD:0022522,GARD:0020130,GARD:0020104,Rare hematologic disease +GARD:0009319,GARD:0022536,GARD:0020130,GARD:0020104,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009319,GARD:0022535,GARD:0020130,GARD:0017870,Rare neoplastic disease +GARD:0009319,GARD:0022536,GARD:0020130,GARD:0016764,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009319,GARD:0022535,GARD:0020130,GARD:0012765,Rare neoplastic disease +GARD:0009319,GARD:0022536,GARD:0020130,GARD:0012765,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009319,GARD:0022535,GARD:0020130,GARD:0010585,Rare neoplastic disease +GARD:0009319,GARD:0022535,GARD:0020130,GARD:0006594,Rare neoplastic disease +GARD:0009319,GARD:0022522,GARD:0020130,GARD:0006594,Rare hematologic disease +GARD:0009319,GARD:0022522,GARD:0020130,GARD:0007422,Rare hematologic disease +GARD:0009319,GARD:0022522,GARD:0020130,GARD:0012765,Rare hematologic disease +GARD:0009319,GARD:0022535,GARD:0020130,GARD:0008618,Rare neoplastic disease +GARD:0009319,GARD:0022522,GARD:0020130,GARD:0017870,Rare hematologic disease +GARD:0009319,GARD:0022522,GARD:0020130,GARD:0002804,Rare hematologic disease +GARD:0009319,GARD:0022536,GARD:0020130,GARD:0017870,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009319,GARD:0022536,GARD:0020130,GARD:0006105,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009319,GARD:0022535,GARD:0020130,GARD:0020104,Rare neoplastic disease +GARD:0009319,GARD:0022535,GARD:0020130,GARD:0007422,Rare neoplastic disease +GARD:0009319,GARD:0022522,GARD:0020130,GARD:0017890,Rare hematologic disease +GARD:0009319,GARD:0022536,GARD:0020130,GARD:0017890,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009319,GARD:0022536,GARD:0020130,GARD:0006594,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009325,GARD:0022536,GARD:0018797,GARD:0020732,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009325,GARD:0022536,GARD:0018797,GARD:0002005,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009325,GARD:0022536,GARD:0018797,GARD:0019706,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009325,GARD:0022535,GARD:0018797,GARD:0019706,Rare neoplastic disease +GARD:0009325,GARD:0022535,GARD:0018797,GARD:0020732,Rare neoplastic disease +GARD:0009325,GARD:0022535,GARD:0018797,GARD:0002005,Rare neoplastic disease +GARD:0009330,GARD:0022536,GARD:0021554,GARD:0019705,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009330,GARD:0022535,GARD:0021554,GARD:0021136,Rare neoplastic disease +GARD:0009330,GARD:0022535,GARD:0021554,GARD:0020349,Rare neoplastic disease +GARD:0009330,GARD:0022514,GARD:0021650,GARD:0019705,Rare gynecologic or obstetric disease +GARD:0009330,GARD:0022536,GARD:0021554,GARD:0021136,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009330,GARD:0022535,GARD:0021650,GARD:0021136,Rare neoplastic disease +GARD:0009330,GARD:0022535,GARD:0021554,GARD:0019705,Rare neoplastic disease +GARD:0009330,GARD:0022536,GARD:0021554,GARD:0020349,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009330,GARD:0022535,GARD:0021650,GARD:0020349,Rare neoplastic disease +GARD:0009330,GARD:0022535,GARD:0021650,GARD:0019705,Rare neoplastic disease +GARD:0009330,GARD:0022514,GARD:0021650,GARD:0020349,Rare gynecologic or obstetric disease +GARD:0009330,GARD:0022514,GARD:0021650,GARD:0021136,Rare gynecologic or obstetric disease +GARD:0009331,GARD:0022506,GARD:0016773,,Rare hepatic disease +GARD:0009331,GARD:0022536,GARD:0016773,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009331,GARD:0022535,GARD:0016773,,Rare neoplastic disease +GARD:0009344,GARD:0022535,GARD:0019794,,Rare neoplastic disease +GARD:0009344,GARD:0022517,GARD:0019794,,Rare respiratory disease +GARD:0009348,GARD:0022514,GARD:0020208,,Rare gynecologic or obstetric disease +GARD:0009348,GARD:0022535,GARD:0020208,,Rare neoplastic disease +GARD:0009349,GARD:0022514,GARD:0020208,GARD:0022006,Rare gynecologic or obstetric disease +GARD:0009349,GARD:0022535,GARD:0020208,GARD:0022005,Rare neoplastic disease +GARD:0009349,GARD:0022535,GARD:0020208,GARD:0022007,Rare neoplastic disease +GARD:0009349,GARD:0022535,GARD:0020208,GARD:0022006,Rare neoplastic disease +GARD:0009349,GARD:0022514,GARD:0020208,GARD:0022005,Rare gynecologic or obstetric disease +GARD:0009349,GARD:0022514,GARD:0020208,GARD:0022007,Rare gynecologic or obstetric disease +GARD:0009351,GARD:0022522,GARD:0020130,GARD:0009884,Rare hematologic disease +GARD:0009351,GARD:0022535,GARD:0020130,GARD:0019583,Rare neoplastic disease +GARD:0009351,GARD:0022536,GARD:0020130,GARD:0019584,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009351,GARD:0022536,GARD:0020130,GARD:0009884,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009351,GARD:0022535,GARD:0020130,GARD:0008225,Rare neoplastic disease +GARD:0009351,GARD:0022522,GARD:0020130,GARD:0019583,Rare hematologic disease +GARD:0009351,GARD:0022536,GARD:0020130,GARD:0019583,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009351,GARD:0022522,GARD:0020130,GARD:0008225,Rare hematologic disease +GARD:0009351,GARD:0022535,GARD:0020130,GARD:0019584,Rare neoplastic disease +GARD:0009351,GARD:0022522,GARD:0020130,GARD:0019584,Rare hematologic disease +GARD:0009351,GARD:0022536,GARD:0020130,GARD:0008225,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009351,GARD:0022535,GARD:0020130,GARD:0009884,Rare neoplastic disease +GARD:0009362,GARD:0022535,GARD:0007295,GARD:0021653,Rare neoplastic disease +GARD:0009362,GARD:0022535,GARD:0007295,GARD:0021652,Rare neoplastic disease +GARD:0009362,GARD:0022514,GARD:0007295,GARD:0007296,Rare gynecologic or obstetric disease +GARD:0009362,GARD:0022535,GARD:0007295,GARD:0021651,Rare neoplastic disease +GARD:0009362,GARD:0022514,GARD:0007295,GARD:0021653,Rare gynecologic or obstetric disease +GARD:0009362,GARD:0022514,GARD:0007295,GARD:0021652,Rare gynecologic or obstetric disease +GARD:0009362,GARD:0022535,GARD:0007295,GARD:0021893,Rare neoplastic disease +GARD:0009362,GARD:0022535,GARD:0007295,GARD:0009363,Rare neoplastic disease +GARD:0009362,GARD:0022514,GARD:0007295,GARD:0021893,Rare gynecologic or obstetric disease +GARD:0009362,GARD:0022514,GARD:0007295,GARD:0021651,Rare gynecologic or obstetric disease +GARD:0009362,GARD:0022535,GARD:0007295,GARD:0020466,Rare neoplastic disease +GARD:0009362,GARD:0022514,GARD:0007295,GARD:0020466,Rare gynecologic or obstetric disease +GARD:0009362,GARD:0022535,GARD:0007295,GARD:0007296,Rare neoplastic disease +GARD:0009362,GARD:0022514,GARD:0007295,GARD:0009363,Rare gynecologic or obstetric disease +GARD:0009363,GARD:0022514,GARD:0009362,,Rare gynecologic or obstetric disease +GARD:0009363,GARD:0022535,GARD:0009362,,Rare neoplastic disease +GARD:0009364,GARD:0022535,GARD:0019403,GARD:0021775,Rare neoplastic disease +GARD:0009364,GARD:0022516,GARD:0019787,GARD:0021775,Rare gastroenterologic disease +GARD:0009364,GARD:0022535,GARD:0019403,GARD:0010460,Rare neoplastic disease +GARD:0009364,GARD:0022516,GARD:0019787,GARD:0010460,Rare gastroenterologic disease +GARD:0009366,GARD:0022532,GARD:0020250,GARD:0021638,Rare urogenital disease +GARD:0009366,GARD:0022532,GARD:0020250,GARD:0021639,Rare urogenital disease +GARD:0009366,GARD:0022535,GARD:0020250,GARD:0021638,Rare neoplastic disease +GARD:0009366,GARD:0022535,GARD:0020250,GARD:0021639,Rare neoplastic disease +GARD:0009369,GARD:0022535,GARD:0020724,,Rare neoplastic disease +GARD:0009369,GARD:0022524,GARD:0020724,,Rare neurologic disease +GARD:0009371,GARD:0022535,GARD:0021253,,Rare neoplastic disease +GARD:0009373,GARD:0022535,GARD:0019440,,Rare neoplastic disease +GARD:0009373,GARD:0022536,GARD:0019440,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009373,GARD:0022522,GARD:0019440,,Rare hematologic disease +GARD:0009376,GARD:0022532,GARD:0019402,,Rare urogenital disease +GARD:0009376,GARD:0022535,GARD:0019402,,Rare neoplastic disease +GARD:0009400,GARD:0022515,GARD:0020534,,Rare cardiac disease +GARD:0009404,GARD:0022532,GARD:0019402,,Rare urogenital disease +GARD:0009404,GARD:0022535,GARD:0019402,,Rare neoplastic disease +GARD:0009412,GARD:0022529,GARD:0005758,,Rare infertility +GARD:0009412,GARD:0022508,GARD:0005758,,Rare inborn errors of metabolism +GARD:0009412,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009412,GARD:0022531,GARD:0005758,,Rare genetic disease +GARD:0009412,GARD:0022524,GARD:0005758,,Rare neurologic disease +GARD:0009412,GARD:0022536,GARD:0005758,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009412,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009412,GARD:0022521,GARD:0005758,,Rare endocrine disease +GARD:0009418,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0009418,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0009418,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0009418,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0009418,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0009420,GARD:0022520,GARD:0022084,,Rare ophthalmic disorder +GARD:0009420,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0009420,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009420,GARD:0022531,GARD:0022084,,Rare genetic disease +GARD:0009420,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0009420,GARD:0022513,GARD:0022084,,Rare developmental defect during embryogenesis +GARD:0009428,GARD:0022521,GARD:0012027,,Rare endocrine disease +GARD:0009428,GARD:0022535,GARD:0012027,,Rare neoplastic disease +GARD:0009429,GARD:0022520,GARD:0013160,,Rare ophthalmic disorder +GARD:0009429,GARD:0022531,GARD:0013160,,Rare genetic disease +GARD:0009429,GARD:0022508,GARD:0013160,,Rare inborn errors of metabolism +GARD:0009429,GARD:0022513,GARD:0013160,,Rare developmental defect during embryogenesis +GARD:0009429,GARD:0022524,GARD:0013160,,Rare neurologic disease +GARD:0009429,GARD:0022511,GARD:0013160,,Rare bone disease +GARD:0009430,GARD:0022522,GARD:0016659,,Rare hematologic disease +GARD:0009430,GARD:0022536,GARD:0016659,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009430,GARD:0022531,GARD:0020319,,Rare genetic disease +GARD:0009430,GARD:0022512,GARD:0016659,,Rare renal disease +GARD:0009430,GARD:0022531,GARD:0020305,,Rare genetic disease +GARD:0009433,GARD:0022531,GARD:0018937,GARD:0018945,Rare genetic disease +GARD:0009433,GARD:0022508,GARD:0018937,GARD:0018945,Rare inborn errors of metabolism +GARD:0009433,GARD:0022508,GARD:0018937,GARD:0018947,Rare inborn errors of metabolism +GARD:0009433,GARD:0022531,GARD:0018937,GARD:0018947,Rare genetic disease +GARD:0009435,GARD:0022523,GARD:0015026,,Rare immune disease +GARD:0009435,GARD:0022531,GARD:0015026,,Rare genetic disease +GARD:0009435,GARD:0022522,GARD:0015026,,Rare hematologic disease +GARD:0009435,GARD:0022510,GARD:0015026,,Rare skin disease +GARD:0009435,GARD:0022520,GARD:0015026,,Rare ophthalmic disorder +GARD:0009435,GARD:0022508,GARD:0015026,,Rare inborn errors of metabolism +GARD:0009435,GARD:0022536,GARD:0015026,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009441,GARD:0022531,GARD:0019001,,Rare genetic disease +GARD:0009441,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009441,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009441,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009441,GARD:0022510,GARD:0019001,,Rare skin disease +GARD:0009442,GARD:0022531,GARD:0020370,,Rare genetic disease +GARD:0009442,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0009442,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0009442,GARD:0022536,GARD:0020519,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009442,GARD:0022515,GARD:0020519,,Rare cardiac disease +GARD:0009442,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0009442,GARD:0022531,GARD:0020519,,Rare genetic disease +GARD:0009442,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0009442,GARD:0022524,GARD:0020370,,Rare neurologic disease +GARD:0009443,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0009443,GARD:0022513,GARD:0021569,,Rare developmental defect during embryogenesis +GARD:0009443,GARD:0022511,GARD:0021569,,Rare bone disease +GARD:0009443,GARD:0022531,GARD:0018991,,Rare genetic disease +GARD:0009443,GARD:0022531,GARD:0021569,,Rare genetic disease +GARD:0009443,GARD:0022531,GARD:0019185,,Rare genetic disease +GARD:0009444,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0009447,GARD:0022520,GARD:0022108,GARD:0002167,Rare ophthalmic disorder +GARD:0009447,GARD:0022524,GARD:0007140,GARD:0002167,Rare neurologic disease +GARD:0009447,GARD:0022531,GARD:0019491,GARD:0002167,Rare genetic disease +GARD:0009447,GARD:0022524,GARD:0019491,GARD:0001219,Rare neurologic disease +GARD:0009447,GARD:0022508,GARD:0010739,GARD:0002167,Rare inborn errors of metabolism +GARD:0009447,GARD:0022520,GARD:0022108,GARD:0001219,Rare ophthalmic disorder +GARD:0009447,GARD:0022524,GARD:0019491,GARD:0002167,Rare neurologic disease +GARD:0009447,GARD:0022531,GARD:0022108,GARD:0002167,Rare genetic disease +GARD:0009447,GARD:0022531,GARD:0022108,GARD:0001219,Rare genetic disease +GARD:0009447,GARD:0022508,GARD:0010739,GARD:0001219,Rare inborn errors of metabolism +GARD:0009447,GARD:0022524,GARD:0010739,GARD:0001219,Rare neurologic disease +GARD:0009447,GARD:0022524,GARD:0007140,GARD:0001219,Rare neurologic disease +GARD:0009447,GARD:0022531,GARD:0019491,GARD:0001219,Rare genetic disease +GARD:0009447,GARD:0022524,GARD:0010739,GARD:0002167,Rare neurologic disease +GARD:0009447,GARD:0022531,GARD:0007140,GARD:0001219,Rare genetic disease +GARD:0009447,GARD:0022531,GARD:0010739,GARD:0001219,Rare genetic disease +GARD:0009447,GARD:0022531,GARD:0010739,GARD:0002167,Rare genetic disease +GARD:0009447,GARD:0022531,GARD:0007140,GARD:0002167,Rare genetic disease +GARD:0009448,GARD:0022513,GARD:0021182,,Rare developmental defect during embryogenesis +GARD:0009448,GARD:0022531,GARD:0021182,,Rare genetic disease +GARD:0009449,GARD:0022521,GARD:0019257,,Rare endocrine disease +GARD:0009450,GARD:0022514,GARD:0020193,,Rare gynecologic or obstetric disease +GARD:0009452,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0009452,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0009453,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0009453,GARD:0022531,GARD:0019566,,Rare genetic disease +GARD:0009453,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0009453,GARD:0022524,GARD:0019566,,Rare neurologic disease +GARD:0009453,GARD:0022524,GARD:0020374,,Rare neurologic disease +GARD:0009453,GARD:0022531,GARD:0021613,,Rare genetic disease +GARD:0009455,GARD:0022520,GARD:0019931,GARD:0015549,Rare ophthalmic disorder +GARD:0009455,GARD:0022531,GARD:0019228,GARD:0015801,Rare genetic disease +GARD:0009455,GARD:0022531,GARD:0021008,GARD:0015801,Rare genetic disease +GARD:0009455,GARD:0022512,GARD:0019228,GARD:0010167,Rare renal disease +GARD:0009455,GARD:0022513,GARD:0019832,GARD:0015801,Rare developmental defect during embryogenesis +GARD:0009455,GARD:0022520,GARD:0019931,GARD:0015807,Rare ophthalmic disorder +GARD:0009455,GARD:0022531,GARD:0022108,GARD:0015807,Rare genetic disease +GARD:0009455,GARD:0022536,GARD:0022061,GARD:0015807,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009455,GARD:0022513,GARD:0020999,GARD:0010167,Rare developmental defect during embryogenesis +GARD:0009455,GARD:0022531,GARD:0022108,GARD:0015801,Rare genetic disease +GARD:0009455,GARD:0022524,GARD:0019931,GARD:0015549,Rare neurologic disease +GARD:0009455,GARD:0022512,GARD:0019228,GARD:0015549,Rare renal disease +GARD:0009455,GARD:0022520,GARD:0022108,GARD:0010167,Rare ophthalmic disorder +GARD:0009455,GARD:0022513,GARD:0019832,GARD:0015549,Rare developmental defect during embryogenesis +GARD:0009455,GARD:0022520,GARD:0022108,GARD:0015549,Rare ophthalmic disorder +GARD:0009455,GARD:0022531,GARD:0019986,GARD:0015549,Rare genetic disease +GARD:0009455,GARD:0022531,GARD:0021008,GARD:0015807,Rare genetic disease +GARD:0009455,GARD:0022512,GARD:0019228,GARD:0015801,Rare renal disease +GARD:0009455,GARD:0022531,GARD:0022441,GARD:0015549,Rare genetic disease +GARD:0009455,GARD:0022520,GARD:0019931,GARD:0010167,Rare ophthalmic disorder +GARD:0009455,GARD:0022513,GARD:0020999,GARD:0015801,Rare developmental defect during embryogenesis +GARD:0009455,GARD:0022512,GARD:0019228,GARD:0015807,Rare renal disease +GARD:0009455,GARD:0022524,GARD:0019832,GARD:0015549,Rare neurologic disease +GARD:0009455,GARD:0022531,GARD:0022441,GARD:0010167,Rare genetic disease +GARD:0009455,GARD:0022524,GARD:0020999,GARD:0015801,Rare neurologic disease +GARD:0009455,GARD:0022513,GARD:0019832,GARD:0010167,Rare developmental defect during embryogenesis +GARD:0009455,GARD:0022512,GARD:0019228,GARD:0015475,Rare renal disease +GARD:0009455,GARD:0022524,GARD:0020999,GARD:0010167,Rare neurologic disease +GARD:0009455,GARD:0022531,GARD:0019228,GARD:0015807,Rare genetic disease +GARD:0009455,GARD:0022524,GARD:0019931,GARD:0015475,Rare neurologic disease +GARD:0009455,GARD:0022531,GARD:0019931,GARD:0015549,Rare genetic disease +GARD:0009455,GARD:0022531,GARD:0019986,GARD:0015475,Rare genetic disease +GARD:0009455,GARD:0022524,GARD:0020999,GARD:0015549,Rare neurologic disease +GARD:0009455,GARD:0022513,GARD:0019832,GARD:0015807,Rare developmental defect during embryogenesis +GARD:0009455,GARD:0022531,GARD:0019228,GARD:0010167,Rare genetic disease +GARD:0009455,GARD:0022513,GARD:0020999,GARD:0015549,Rare developmental defect during embryogenesis +GARD:0009455,GARD:0022520,GARD:0022108,GARD:0015807,Rare ophthalmic disorder +GARD:0009455,GARD:0022524,GARD:0020999,GARD:0015807,Rare neurologic disease +GARD:0009455,GARD:0022531,GARD:0019931,GARD:0015801,Rare genetic disease +GARD:0009455,GARD:0022513,GARD:0020999,GARD:0015807,Rare developmental defect during embryogenesis +GARD:0009455,GARD:0022524,GARD:0019931,GARD:0015801,Rare neurologic disease +GARD:0009455,GARD:0022520,GARD:0022108,GARD:0015801,Rare ophthalmic disorder +GARD:0009455,GARD:0022531,GARD:0019931,GARD:0015807,Rare genetic disease +GARD:0009455,GARD:0022524,GARD:0019931,GARD:0010167,Rare neurologic disease +GARD:0009455,GARD:0022531,GARD:0019228,GARD:0015549,Rare genetic disease +GARD:0009455,GARD:0022531,GARD:0019931,GARD:0015475,Rare genetic disease +GARD:0009455,GARD:0022524,GARD:0019832,GARD:0015801,Rare neurologic disease +GARD:0009455,GARD:0022524,GARD:0019832,GARD:0010167,Rare neurologic disease +GARD:0009455,GARD:0022513,GARD:0019832,GARD:0015475,Rare developmental defect during embryogenesis +GARD:0009455,GARD:0022536,GARD:0022061,GARD:0015549,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009455,GARD:0022531,GARD:0022441,GARD:0015475,Rare genetic disease +GARD:0009455,GARD:0022536,GARD:0022061,GARD:0010167,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009455,GARD:0022531,GARD:0019228,GARD:0015475,Rare genetic disease +GARD:0009455,GARD:0022531,GARD:0022108,GARD:0015475,Rare genetic disease +GARD:0009455,GARD:0022531,GARD:0019986,GARD:0015801,Rare genetic disease +GARD:0009455,GARD:0022524,GARD:0020999,GARD:0015475,Rare neurologic disease +GARD:0009455,GARD:0022520,GARD:0022108,GARD:0015475,Rare ophthalmic disorder +GARD:0009455,GARD:0022531,GARD:0019986,GARD:0010167,Rare genetic disease +GARD:0009455,GARD:0022531,GARD:0021008,GARD:0010167,Rare genetic disease +GARD:0009455,GARD:0022531,GARD:0022108,GARD:0010167,Rare genetic disease +GARD:0009455,GARD:0022536,GARD:0022061,GARD:0015801,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009455,GARD:0022531,GARD:0022441,GARD:0015801,Rare genetic disease +GARD:0009455,GARD:0022531,GARD:0022441,GARD:0015807,Rare genetic disease +GARD:0009455,GARD:0022531,GARD:0022108,GARD:0015549,Rare genetic disease +GARD:0009455,GARD:0022520,GARD:0019931,GARD:0015475,Rare ophthalmic disorder +GARD:0009455,GARD:0022531,GARD:0021008,GARD:0015475,Rare genetic disease +GARD:0009455,GARD:0022520,GARD:0019931,GARD:0015801,Rare ophthalmic disorder +GARD:0009455,GARD:0022531,GARD:0019986,GARD:0015807,Rare genetic disease +GARD:0009455,GARD:0022524,GARD:0019931,GARD:0015807,Rare neurologic disease +GARD:0009455,GARD:0022524,GARD:0019832,GARD:0015475,Rare neurologic disease +GARD:0009455,GARD:0022531,GARD:0021008,GARD:0015549,Rare genetic disease +GARD:0009455,GARD:0022513,GARD:0020999,GARD:0015475,Rare developmental defect during embryogenesis +GARD:0009455,GARD:0022536,GARD:0022061,GARD:0015475,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009455,GARD:0022524,GARD:0019832,GARD:0015807,Rare neurologic disease +GARD:0009455,GARD:0022531,GARD:0019931,GARD:0010167,Rare genetic disease +GARD:0009456,GARD:0022522,GARD:0019453,,Rare hematologic disease +GARD:0009456,GARD:0022531,GARD:0019453,,Rare genetic disease +GARD:0009456,GARD:0022508,GARD:0021346,,Rare inborn errors of metabolism +GARD:0009456,GARD:0022531,GARD:0021346,,Rare genetic disease +GARD:0009457,GARD:0022536,GARD:0022060,GARD:0016174,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009457,GARD:0022531,GARD:0020006,GARD:0016174,Rare genetic disease +GARD:0009457,GARD:0022506,GARD:0019791,GARD:0016174,Rare hepatic disease +GARD:0009458,GARD:0022518,GARD:0010788,,Rare surgical thoracic disease +GARD:0009458,GARD:0022513,GARD:0010788,,Rare developmental defect during embryogenesis +GARD:0009458,GARD:0022525,GARD:0010788,,Rare systemic or rheumatologic disease +GARD:0009458,GARD:0022527,GARD:0010788,,Rare circulatory system disease +GARD:0009458,GARD:0022531,GARD:0010788,,Rare genetic disease +GARD:0009458,GARD:0022511,GARD:0010788,,Rare bone disease +GARD:0009463,GARD:0022513,GARD:0019905,,Rare developmental defect during embryogenesis +GARD:0009463,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0009463,GARD:0022531,GARD:0019905,,Rare genetic disease +GARD:0009463,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0009463,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0009465,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0009465,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0009472,GARD:0022535,GARD:0013156,,Rare neoplastic disease +GARD:0009472,GARD:0022524,GARD:0013156,,Rare neurologic disease +GARD:0009474,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0009474,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0009474,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0009474,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009479,GARD:0022531,GARD:0012623,,Rare genetic disease +GARD:0009479,GARD:0022508,GARD:0012623,,Rare inborn errors of metabolism +GARD:0009479,GARD:0022536,GARD:0012623,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009479,GARD:0022512,GARD:0012623,,Rare renal disease +GARD:0009481,GARD:0022531,GARD:0019228,,Rare genetic disease +GARD:0009481,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009481,GARD:0022531,GARD:0020816,,Rare genetic disease +GARD:0009481,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0009481,GARD:0022513,GARD:0020816,,Rare developmental defect during embryogenesis +GARD:0009481,GARD:0022512,GARD:0019228,,Rare renal disease +GARD:0009484,GARD:0022524,GARD:0020656,,Rare neurologic disease +GARD:0009485,GARD:0022531,GARD:0016883,,Rare genetic disease +GARD:0009485,GARD:0022520,GARD:0016883,,Rare ophthalmic disorder +GARD:0009485,GARD:0022513,GARD:0016883,,Rare developmental defect during embryogenesis +GARD:0009486,GARD:0022531,GARD:0021935,,Rare genetic disease +GARD:0009486,GARD:0022528,GARD:0022528,,Rare otorhinolaryngologic disease +GARD:0009487,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0009487,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0009487,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0009487,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0009487,GARD:0022524,GARD:0020358,,Rare neurologic disease +GARD:0009487,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0009487,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0009487,GARD:0022531,GARD:0020358,,Rare genetic disease +GARD:0009489,GARD:0022514,GARD:0020194,GARD:0015045,Rare gynecologic or obstetric disease +GARD:0009489,GARD:0022531,GARD:0020323,GARD:0016044,Rare genetic disease +GARD:0009489,GARD:0022514,GARD:0020194,GARD:0016044,Rare gynecologic or obstetric disease +GARD:0009489,GARD:0022531,GARD:0020323,GARD:0015045,Rare genetic disease +GARD:0009491,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0009491,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0009491,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0009492,GARD:0022520,GARD:0016887,,Rare ophthalmic disorder +GARD:0009492,GARD:0022531,GARD:0016887,,Rare genetic disease +GARD:0009492,GARD:0022513,GARD:0016887,,Rare developmental defect during embryogenesis +GARD:0009493,GARD:0022508,GARD:0021343,GARD:0016204,Rare inborn errors of metabolism +GARD:0009493,GARD:0022531,GARD:0021967,GARD:0016204,Rare genetic disease +GARD:0009493,GARD:0022522,GARD:0021967,GARD:0016204,Rare hematologic disease +GARD:0009493,GARD:0022531,GARD:0020362,GARD:0016204,Rare genetic disease +GARD:0009493,GARD:0022524,GARD:0021603,GARD:0016204,Rare neurologic disease +GARD:0009493,GARD:0022531,GARD:0020439,GARD:0016204,Rare genetic disease +GARD:0009493,GARD:0022524,GARD:0020362,GARD:0016204,Rare neurologic disease +GARD:0009493,GARD:0022531,GARD:0020364,GARD:0016204,Rare genetic disease +GARD:0009493,GARD:0022524,GARD:0020364,GARD:0016204,Rare neurologic disease +GARD:0009493,GARD:0022531,GARD:0021343,GARD:0016204,Rare genetic disease +GARD:0009493,GARD:0022531,GARD:0021603,GARD:0016204,Rare genetic disease +GARD:0009494,GARD:0022531,GARD:0020364,,Rare genetic disease +GARD:0009494,GARD:0022524,GARD:0020364,,Rare neurologic disease +GARD:0009495,GARD:0022526,GARD:0008349,,Rare odontologic disease +GARD:0009495,GARD:0022531,GARD:0008349,,Rare genetic disease +GARD:0009496,GARD:0022536,GARD:0022061,GARD:0015541,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009496,GARD:0022531,GARD:0020306,GARD:0015296,Rare genetic disease +GARD:0009496,GARD:0022536,GARD:0022061,GARD:0015296,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009496,GARD:0022531,GARD:0020306,GARD:0015541,Rare genetic disease +GARD:0009496,GARD:0022531,GARD:0020306,GARD:0015186,Rare genetic disease +GARD:0009496,GARD:0022512,GARD:0019230,GARD:0015296,Rare renal disease +GARD:0009496,GARD:0022512,GARD:0019230,GARD:0015541,Rare renal disease +GARD:0009496,GARD:0022512,GARD:0019230,GARD:0015186,Rare renal disease +GARD:0009496,GARD:0022536,GARD:0022061,GARD:0015186,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009499,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0009499,GARD:0022531,GARD:0011899,,Rare genetic disease +GARD:0009499,GARD:0022531,GARD:0019452,,Rare genetic disease +GARD:0009499,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0009499,GARD:0022522,GARD:0019452,,Rare hematologic disease +GARD:0009499,GARD:0022508,GARD:0021355,,Rare inborn errors of metabolism +GARD:0009499,GARD:0022531,GARD:0021355,,Rare genetic disease +GARD:0009499,GARD:0022524,GARD:0011899,,Rare neurologic disease +GARD:0009501,GARD:0022524,GARD:0021269,,Rare neurologic disease +GARD:0009501,GARD:0022531,GARD:0021286,,Rare genetic disease +GARD:0009504,GARD:0022510,GARD:0010983,,Rare skin disease +GARD:0009504,GARD:0022531,GARD:0010983,,Rare genetic disease +GARD:0009505,GARD:0022510,GARD:0010983,,Rare skin disease +GARD:0009505,GARD:0022510,GARD:0004438,,Rare skin disease +GARD:0009505,GARD:0022531,GARD:0010983,,Rare genetic disease +GARD:0009505,GARD:0022531,GARD:0004438,,Rare genetic disease +GARD:0009506,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0009506,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0009506,GARD:0022531,GARD:0019206,,Rare genetic disease +GARD:0009506,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0009506,GARD:0022511,GARD:0019206,,Rare bone disease +GARD:0009506,GARD:0022513,GARD:0019206,,Rare developmental defect during embryogenesis +GARD:0009508,GARD:0022513,GARD:0016888,GARD:0015800,Rare developmental defect during embryogenesis +GARD:0009508,GARD:0022531,GARD:0016888,GARD:0015046,Rare genetic disease +GARD:0009508,GARD:0022513,GARD:0016888,GARD:0015046,Rare developmental defect during embryogenesis +GARD:0009508,GARD:0022531,GARD:0016888,GARD:0015800,Rare genetic disease +GARD:0009508,GARD:0022520,GARD:0016888,GARD:0015800,Rare ophthalmic disorder +GARD:0009508,GARD:0022520,GARD:0016888,GARD:0015046,Rare ophthalmic disorder +GARD:0009509,GARD:0022524,GARD:0019832,GARD:0019239,Rare neurologic disease +GARD:0009509,GARD:0022513,GARD:0019832,GARD:0019239,Rare developmental defect during embryogenesis +GARD:0009509,GARD:0022531,GARD:0022441,GARD:0019241,Rare genetic disease +GARD:0009509,GARD:0022513,GARD:0019832,GARD:0019242,Rare developmental defect during embryogenesis +GARD:0009509,GARD:0022524,GARD:0019832,GARD:0019242,Rare neurologic disease +GARD:0009509,GARD:0022531,GARD:0022441,GARD:0019239,Rare genetic disease +GARD:0009509,GARD:0022513,GARD:0019832,GARD:0019240,Rare developmental defect during embryogenesis +GARD:0009509,GARD:0022531,GARD:0022441,GARD:0019242,Rare genetic disease +GARD:0009509,GARD:0022513,GARD:0019832,GARD:0019241,Rare developmental defect during embryogenesis +GARD:0009509,GARD:0022524,GARD:0019832,GARD:0019240,Rare neurologic disease +GARD:0009509,GARD:0022531,GARD:0022441,GARD:0019240,Rare genetic disease +GARD:0009509,GARD:0022524,GARD:0019832,GARD:0019241,Rare neurologic disease +GARD:0009511,GARD:0022531,GARD:0020764,GARD:0015148,Rare genetic disease +GARD:0009511,GARD:0022536,GARD:0020527,GARD:0015148,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009511,GARD:0022508,GARD:0020764,GARD:0015148,Rare inborn errors of metabolism +GARD:0009511,GARD:0022515,GARD:0020527,GARD:0015148,Rare cardiac disease +GARD:0009511,GARD:0022515,GARD:0019785,GARD:0015148,Rare cardiac disease +GARD:0009511,GARD:0022531,GARD:0019785,GARD:0015148,Rare genetic disease +GARD:0009511,GARD:0022531,GARD:0020527,GARD:0015148,Rare genetic disease +GARD:0009514,GARD:0022535,GARD:0012775,,Rare neoplastic disease +GARD:0009514,GARD:0022514,GARD:0012775,,Rare gynecologic or obstetric disease +GARD:0009514,GARD:0022514,GARD:0012772,,Rare gynecologic or obstetric disease +GARD:0009514,GARD:0022535,GARD:0012772,,Rare neoplastic disease +GARD:0009517,GARD:0022513,GARD:0018748,,Rare developmental defect during embryogenesis +GARD:0009517,GARD:0022531,GARD:0018748,,Rare genetic disease +GARD:0009517,GARD:0022512,GARD:0018748,,Rare renal disease +GARD:0009517,GARD:0022536,GARD:0018748,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009525,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0009528,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0009534,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0009535,GARD:0021079,GARD:0010927,GARD:0015051,Rare systemic or rheumatological disease of childhood +GARD:0009535,GARD:0022523,GARD:0010927,GARD:0015051,Rare immune disease +GARD:0009535,GARD:0022531,GARD:0010927,GARD:0015051,Rare genetic disease +GARD:0009535,GARD:0021079,GARD:0010927,GARD:0016061,Rare systemic or rheumatological disease of childhood +GARD:0009535,GARD:0022531,GARD:0010927,GARD:0016061,Rare genetic disease +GARD:0009535,GARD:0022525,GARD:0010927,GARD:0015051,Rare systemic or rheumatologic disease +GARD:0009535,GARD:0022523,GARD:0010927,GARD:0016061,Rare immune disease +GARD:0009535,GARD:0022510,GARD:0010927,GARD:0015051,Rare skin disease +GARD:0009535,GARD:0022510,GARD:0010927,GARD:0016061,Rare skin disease +GARD:0009535,GARD:0022525,GARD:0010927,GARD:0016061,Rare systemic or rheumatologic disease +GARD:0009546,GARD:0022509,GARD:0020044,GARD:0015986,Rare infectious disease +GARD:0009550,GARD:0022524,GARD:0017788,,Rare neurologic disease +GARD:0009553,GARD:0022536,GARD:0020133,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009553,GARD:0022535,GARD:0021147,,Rare neoplastic disease +GARD:0009553,GARD:0022522,GARD:0020133,,Rare hematologic disease +GARD:0009553,GARD:0022535,GARD:0020133,,Rare neoplastic disease +GARD:0009553,GARD:0022522,GARD:0019443,,Rare hematologic disease +GARD:0009553,GARD:0022535,GARD:0019443,,Rare neoplastic disease +GARD:0009553,GARD:0022536,GARD:0019443,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009557,GARD:0022509,GARD:0020044,GARD:0019702,Rare infectious disease +GARD:0009557,GARD:0022509,GARD:0020044,GARD:0019701,Rare infectious disease +GARD:0009558,GARD:0022536,GARD:0013592,GARD:0006107,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009558,GARD:0022523,GARD:0013592,GARD:0015616,Rare immune disease +GARD:0009558,GARD:0022531,GARD:0013592,GARD:0016375,Rare genetic disease +GARD:0009558,GARD:0022536,GARD:0013592,GARD:0015616,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009558,GARD:0022523,GARD:0013592,GARD:0006107,Rare immune disease +GARD:0009558,GARD:0022523,GARD:0013592,GARD:0016375,Rare immune disease +GARD:0009558,GARD:0022531,GARD:0013592,GARD:0006107,Rare genetic disease +GARD:0009558,GARD:0022536,GARD:0013592,GARD:0016375,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009558,GARD:0022531,GARD:0013592,GARD:0015616,Rare genetic disease +GARD:0009560,GARD:0022509,GARD:0020044,GARD:0019709,Rare infectious disease +GARD:0009560,GARD:0022509,GARD:0020044,GARD:0019710,Rare infectious disease +GARD:0009564,GARD:0022509,GARD:0018704,,Rare infectious disease +GARD:0009568,GARD:0022534,GARD:0022534,GARD:0005697,Rare abdominal surgical disease +GARD:0009568,GARD:0022525,GARD:0022391,GARD:0005697,Rare systemic or rheumatologic disease +GARD:0009569,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0009569,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0009569,GARD:0022531,GARD:0021011,,Rare genetic disease +GARD:0009569,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0009569,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0009571,GARD:0022531,GARD:0021420,,Rare genetic disease +GARD:0009571,GARD:0022535,GARD:0021420,,Rare neoplastic disease +GARD:0009571,GARD:0022512,GARD:0021420,,Rare renal disease +GARD:0009572,GARD:0022512,GARD:0013215,,Rare renal disease +GARD:0009572,GARD:0022535,GARD:0013215,,Rare neoplastic disease +GARD:0009572,GARD:0022536,GARD:0013215,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009573,GARD:0022535,GARD:0013215,,Rare neoplastic disease +GARD:0009573,GARD:0022536,GARD:0013215,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009573,GARD:0022512,GARD:0013215,,Rare renal disease +GARD:0009574,GARD:0022535,GARD:0013215,GARD:0021417,Rare neoplastic disease +GARD:0009574,GARD:0022512,GARD:0013215,GARD:0021417,Rare renal disease +GARD:0009574,GARD:0022512,GARD:0013215,GARD:0021721,Rare renal disease +GARD:0009574,GARD:0022536,GARD:0013215,GARD:0021417,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009574,GARD:0022536,GARD:0013215,GARD:0021721,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009574,GARD:0022535,GARD:0013215,GARD:0021721,Rare neoplastic disease +GARD:0009578,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0009578,GARD:0022514,GARD:0020049,,Rare gynecologic or obstetric disease +GARD:0009581,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009581,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0009581,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0009581,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009582,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0009582,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0009583,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0009583,GARD:0022524,GARD:0019770,,Rare neurologic disease +GARD:0009583,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0009583,GARD:0022531,GARD:0019770,,Rare genetic disease +GARD:0009585,GARD:0022531,GARD:0021432,,Rare genetic disease +GARD:0009585,GARD:0022524,GARD:0021432,,Rare neurologic disease +GARD:0009586,GARD:0022531,GARD:0019771,,Rare genetic disease +GARD:0009586,GARD:0022524,GARD:0019771,,Rare neurologic disease +GARD:0009587,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0009587,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009587,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0009587,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009588,GARD:0022524,GARD:0019771,,Rare neurologic disease +GARD:0009588,GARD:0022531,GARD:0019771,,Rare genetic disease +GARD:0009589,GARD:0022524,GARD:0021431,,Rare neurologic disease +GARD:0009589,GARD:0022531,GARD:0021431,,Rare genetic disease +GARD:0009590,GARD:0022531,GARD:0021430,,Rare genetic disease +GARD:0009590,GARD:0022524,GARD:0021430,,Rare neurologic disease +GARD:0009591,GARD:0022524,GARD:0021430,,Rare neurologic disease +GARD:0009591,GARD:0022531,GARD:0021430,,Rare genetic disease +GARD:0009595,GARD:0022508,GARD:0021355,,Rare inborn errors of metabolism +GARD:0009595,GARD:0022531,GARD:0019452,,Rare genetic disease +GARD:0009595,GARD:0022531,GARD:0021355,,Rare genetic disease +GARD:0009595,GARD:0022522,GARD:0019452,,Rare hematologic disease +GARD:0009598,GARD:0022523,GARD:0000575,,Rare immune disease +GARD:0009598,GARD:0022524,GARD:0000575,,Rare neurologic disease +GARD:0009598,GARD:0022525,GARD:0000575,,Rare systemic or rheumatologic disease +GARD:0009598,GARD:0022531,GARD:0000575,,Rare genetic disease +GARD:0009598,GARD:0021079,GARD:0000575,,Rare systemic or rheumatological disease of childhood +GARD:0009602,GARD:0022524,GARD:0020457,,Rare neurologic disease +GARD:0009602,GARD:0022531,GARD:0019570,,Rare genetic disease +GARD:0009602,GARD:0022531,GARD:0020457,,Rare genetic disease +GARD:0009611,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0009611,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0009611,GARD:0022531,GARD:0019571,,Rare genetic disease +GARD:0009615,GARD:0022536,GARD:0022292,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009615,GARD:0022512,GARD:0022292,,Rare renal disease +GARD:0009615,GARD:0022527,GARD:0019981,,Rare circulatory system disease +GARD:0009615,GARD:0022525,GARD:0019981,,Rare systemic or rheumatologic disease +GARD:0009616,GARD:0022524,GARD:0021430,,Rare neurologic disease +GARD:0009616,GARD:0022531,GARD:0021430,,Rare genetic disease +GARD:0009620,GARD:0022536,GARD:0012760,GARD:0015066,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009620,GARD:0022535,GARD:0012760,GARD:0015066,Rare neoplastic disease +GARD:0009620,GARD:0022522,GARD:0012760,GARD:0015066,Rare hematologic disease +GARD:0009621,GARD:0022536,GARD:0019706,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009621,GARD:0022535,GARD:0019706,,Rare neoplastic disease +GARD:0009626,GARD:0022536,GARD:0005701,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009626,GARD:0022531,GARD:0016482,,Rare genetic disease +GARD:0009626,GARD:0022531,GARD:0005701,,Rare genetic disease +GARD:0009626,GARD:0022520,GARD:0005701,,Rare ophthalmic disorder +GARD:0009626,GARD:0022520,GARD:0016482,,Rare ophthalmic disorder +GARD:0009626,GARD:0022531,GARD:0016485,,Rare genetic disease +GARD:0009626,GARD:0022513,GARD:0005701,,Rare developmental defect during embryogenesis +GARD:0009626,GARD:0022534,GARD:0005701,,Rare abdominal surgical disease +GARD:0009626,GARD:0022521,GARD:0005701,,Rare endocrine disease +GARD:0009626,GARD:0022520,GARD:0016485,,Rare ophthalmic disorder +GARD:0009626,GARD:0022513,GARD:0016485,,Rare developmental defect during embryogenesis +GARD:0009626,GARD:0022513,GARD:0016482,,Rare developmental defect during embryogenesis +GARD:0009628,GARD:0022531,GARD:0021628,,Rare genetic disease +GARD:0009628,GARD:0022531,GARD:0021283,,Rare genetic disease +GARD:0009628,GARD:0022524,GARD:0021628,,Rare neurologic disease +GARD:0009628,GARD:0022524,GARD:0018891,,Rare neurologic disease +GARD:0009630,GARD:0022531,GARD:0021618,,Rare genetic disease +GARD:0009630,GARD:0022524,GARD:0021618,,Rare neurologic disease +GARD:0009631,GARD:0022524,GARD:0002027,,Rare neurologic disease +GARD:0009631,GARD:0022531,GARD:0002027,,Rare genetic disease +GARD:0009632,GARD:0022524,GARD:0021140,,Rare neurologic disease +GARD:0009632,GARD:0022531,GARD:0021140,,Rare genetic disease +GARD:0009633,GARD:0022531,GARD:0016480,,Rare genetic disease +GARD:0009633,GARD:0022520,GARD:0016480,,Rare ophthalmic disorder +GARD:0009634,GARD:0022513,GARD:0000777,GARD:0002293,Rare developmental defect during embryogenesis +GARD:0009634,GARD:0022513,GARD:0000777,GARD:0016495,Rare developmental defect during embryogenesis +GARD:0009634,GARD:0022513,GARD:0000777,GARD:0016497,Rare developmental defect during embryogenesis +GARD:0009634,GARD:0022531,GARD:0019867,GARD:0016497,Rare genetic disease +GARD:0009634,GARD:0022518,GARD:0019868,GARD:0002293,Rare surgical thoracic disease +GARD:0009634,GARD:0022517,GARD:0020248,GARD:0016495,Rare respiratory disease +GARD:0009634,GARD:0022517,GARD:0020248,GARD:0016496,Rare respiratory disease +GARD:0009634,GARD:0022513,GARD:0000777,GARD:0016496,Rare developmental defect during embryogenesis +GARD:0009634,GARD:0022513,GARD:0019868,GARD:0002293,Rare developmental defect during embryogenesis +GARD:0009634,GARD:0022531,GARD:0021507,GARD:0002293,Rare genetic disease +GARD:0009634,GARD:0022517,GARD:0020248,GARD:0002293,Rare respiratory disease +GARD:0009634,GARD:0022531,GARD:0000777,GARD:0016497,Rare genetic disease +GARD:0009634,GARD:0022531,GARD:0019867,GARD:0002293,Rare genetic disease +GARD:0009634,GARD:0022513,GARD:0019868,GARD:0016497,Rare developmental defect during embryogenesis +GARD:0009634,GARD:0022531,GARD:0021507,GARD:0016495,Rare genetic disease +GARD:0009634,GARD:0022531,GARD:0021507,GARD:0016496,Rare genetic disease +GARD:0009634,GARD:0022517,GARD:0020248,GARD:0016497,Rare respiratory disease +GARD:0009634,GARD:0022531,GARD:0019867,GARD:0016496,Rare genetic disease +GARD:0009634,GARD:0022531,GARD:0000777,GARD:0002293,Rare genetic disease +GARD:0009634,GARD:0022513,GARD:0019868,GARD:0016495,Rare developmental defect during embryogenesis +GARD:0009634,GARD:0022513,GARD:0019833,GARD:0016496,Rare developmental defect during embryogenesis +GARD:0009634,GARD:0022518,GARD:0019868,GARD:0016495,Rare surgical thoracic disease +GARD:0009634,GARD:0022531,GARD:0000777,GARD:0016495,Rare genetic disease +GARD:0009634,GARD:0022513,GARD:0019833,GARD:0016495,Rare developmental defect during embryogenesis +GARD:0009634,GARD:0022531,GARD:0021507,GARD:0016497,Rare genetic disease +GARD:0009634,GARD:0022531,GARD:0000777,GARD:0016496,Rare genetic disease +GARD:0009634,GARD:0022513,GARD:0019868,GARD:0016496,Rare developmental defect during embryogenesis +GARD:0009634,GARD:0022531,GARD:0019867,GARD:0016495,Rare genetic disease +GARD:0009634,GARD:0022513,GARD:0019833,GARD:0016497,Rare developmental defect during embryogenesis +GARD:0009634,GARD:0022518,GARD:0019868,GARD:0016496,Rare surgical thoracic disease +GARD:0009634,GARD:0022518,GARD:0019868,GARD:0016497,Rare surgical thoracic disease +GARD:0009634,GARD:0022513,GARD:0019833,GARD:0002293,Rare developmental defect during embryogenesis +GARD:0009635,GARD:0022510,GARD:0019012,,Rare skin disease +GARD:0009635,GARD:0022530,GARD:0019012,,Rare allergic disease +GARD:0009635,GARD:0022514,GARD:0020049,,Rare gynecologic or obstetric disease +GARD:0009640,GARD:0022531,GARD:0017155,GARD:0015673,Rare genetic disease +GARD:0009640,GARD:0022531,GARD:0017155,GARD:0016171,Rare genetic disease +GARD:0009640,GARD:0022531,GARD:0017155,GARD:0015675,Rare genetic disease +GARD:0009640,GARD:0022531,GARD:0017155,GARD:0015674,Rare genetic disease +GARD:0009640,GARD:0022523,GARD:0017155,GARD:0015673,Rare immune disease +GARD:0009640,GARD:0022531,GARD:0017155,GARD:0015672,Rare genetic disease +GARD:0009640,GARD:0022531,GARD:0017155,GARD:0015579,Rare genetic disease +GARD:0009640,GARD:0022523,GARD:0017155,GARD:0016171,Rare immune disease +GARD:0009640,GARD:0022523,GARD:0017155,GARD:0015918,Rare immune disease +GARD:0009640,GARD:0022523,GARD:0017155,GARD:0015675,Rare immune disease +GARD:0009640,GARD:0022523,GARD:0017155,GARD:0015674,Rare immune disease +GARD:0009640,GARD:0022523,GARD:0017155,GARD:0015579,Rare immune disease +GARD:0009640,GARD:0022531,GARD:0017155,GARD:0015918,Rare genetic disease +GARD:0009640,GARD:0022523,GARD:0017155,GARD:0015672,Rare immune disease +GARD:0009642,GARD:0022531,GARD:0016610,,Rare genetic disease +GARD:0009642,GARD:0022524,GARD:0016610,,Rare neurologic disease +GARD:0009643,GARD:0022531,GARD:0022108,GARD:0010104,Rare genetic disease +GARD:0009643,GARD:0022510,GARD:0020574,GARD:0010104,Rare skin disease +GARD:0009643,GARD:0022527,GARD:0020010,GARD:0010104,Rare circulatory system disease +GARD:0009643,GARD:0022531,GARD:0020281,GARD:0010104,Rare genetic disease +GARD:0009643,GARD:0022531,GARD:0020574,GARD:0010104,Rare genetic disease +GARD:0009643,GARD:0022531,GARD:0020010,GARD:0010104,Rare genetic disease +GARD:0009643,GARD:0022512,GARD:0020010,GARD:0010104,Rare renal disease +GARD:0009643,GARD:0022536,GARD:0022061,GARD:0010104,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009643,GARD:0022531,GARD:0019905,GARD:0010104,Rare genetic disease +GARD:0009643,GARD:0022531,GARD:0020532,GARD:0010104,Rare genetic disease +GARD:0009643,GARD:0022531,GARD:0019904,GARD:0010104,Rare genetic disease +GARD:0009643,GARD:0022520,GARD:0022108,GARD:0010104,Rare ophthalmic disorder +GARD:0009643,GARD:0022513,GARD:0019904,GARD:0010104,Rare developmental defect during embryogenesis +GARD:0009643,GARD:0022513,GARD:0019905,GARD:0010104,Rare developmental defect during embryogenesis +GARD:0009643,GARD:0022524,GARD:0018911,GARD:0010104,Rare neurologic disease +GARD:0009643,GARD:0022515,GARD:0020532,GARD:0010104,Rare cardiac disease +GARD:0009647,GARD:0022531,GARD:0022177,,Rare genetic disease +GARD:0009647,GARD:0022520,GARD:0019518,,Rare ophthalmic disorder +GARD:0009649,GARD:0022520,GARD:0015015,,Rare ophthalmic disorder +GARD:0009649,GARD:0022531,GARD:0015015,,Rare genetic disease +GARD:0009650,GARD:0022531,GARD:0015015,,Rare genetic disease +GARD:0009650,GARD:0022520,GARD:0015015,,Rare ophthalmic disorder +GARD:0009652,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0009652,GARD:0022521,GARD:0018893,,Rare endocrine disease +GARD:0009652,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0009652,GARD:0022511,GARD:0022511,,Rare bone disease +GARD:0009654,GARD:0022510,GARD:0019018,,Rare skin disease +GARD:0009657,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0009657,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0009657,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0009659,GARD:0022531,GARD:0005893,,Rare genetic disease +GARD:0009659,GARD:0022512,GARD:0005893,,Rare renal disease +GARD:0009659,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009661,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0009661,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0009661,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0009662,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0009662,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0009662,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0009665,GARD:0022535,GARD:0018816,,Rare neoplastic disease +GARD:0009665,GARD:0022514,GARD:0018816,,Rare gynecologic or obstetric disease +GARD:0009670,GARD:0022522,GARD:0018873,,Rare hematologic disease +GARD:0009670,GARD:0022531,GARD:0018873,,Rare genetic disease +GARD:0009673,GARD:0022513,GARD:0019832,GARD:0017248,Rare developmental defect during embryogenesis +GARD:0009673,GARD:0022531,GARD:0022248,GARD:0017248,Rare genetic disease +GARD:0009673,GARD:0022513,GARD:0019832,GARD:0017249,Rare developmental defect during embryogenesis +GARD:0009673,GARD:0022524,GARD:0020086,GARD:0017248,Rare neurologic disease +GARD:0009673,GARD:0022534,GARD:0022248,GARD:0017249,Rare abdominal surgical disease +GARD:0009673,GARD:0022536,GARD:0022248,GARD:0017249,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009673,GARD:0022531,GARD:0020086,GARD:0017249,Rare genetic disease +GARD:0009673,GARD:0022531,GARD:0020086,GARD:0017248,Rare genetic disease +GARD:0009673,GARD:0022531,GARD:0022441,GARD:0017248,Rare genetic disease +GARD:0009673,GARD:0022531,GARD:0022441,GARD:0017249,Rare genetic disease +GARD:0009673,GARD:0022524,GARD:0019832,GARD:0017248,Rare neurologic disease +GARD:0009673,GARD:0022536,GARD:0022248,GARD:0017248,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009673,GARD:0022513,GARD:0022248,GARD:0017249,Rare developmental defect during embryogenesis +GARD:0009673,GARD:0022524,GARD:0020086,GARD:0017249,Rare neurologic disease +GARD:0009673,GARD:0022531,GARD:0022248,GARD:0017249,Rare genetic disease +GARD:0009673,GARD:0022534,GARD:0022248,GARD:0017248,Rare abdominal surgical disease +GARD:0009673,GARD:0022524,GARD:0019832,GARD:0017249,Rare neurologic disease +GARD:0009673,GARD:0022513,GARD:0022248,GARD:0017248,Rare developmental defect during embryogenesis +GARD:0009675,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009675,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009675,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009676,GARD:0022531,GARD:0002003,GARD:0015648,Rare genetic disease +GARD:0009676,GARD:0022524,GARD:0020362,GARD:0015648,Rare neurologic disease +GARD:0009676,GARD:0022531,GARD:0020362,GARD:0015648,Rare genetic disease +GARD:0009677,GARD:0022531,GARD:0019519,,Rare genetic disease +GARD:0009677,GARD:0022520,GARD:0019519,,Rare ophthalmic disorder +GARD:0009678,GARD:0022520,GARD:0019519,GARD:0010320,Rare ophthalmic disorder +GARD:0009678,GARD:0022531,GARD:0019519,GARD:0010320,Rare genetic disease +GARD:0009679,GARD:0022513,GARD:0021609,,Rare developmental defect during embryogenesis +GARD:0009679,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009679,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0009679,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0009679,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0009679,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0009679,GARD:0022531,GARD:0021612,,Rare genetic disease +GARD:0009679,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009679,GARD:0022513,GARD:0021612,,Rare developmental defect during embryogenesis +GARD:0009679,GARD:0022531,GARD:0021609,,Rare genetic disease +GARD:0009679,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0009679,GARD:0022528,GARD:0021612,,Rare otorhinolaryngologic disease +GARD:0009679,GARD:0022531,GARD:0021337,,Rare genetic disease +GARD:0009679,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0009679,GARD:0022508,GARD:0021337,,Rare inborn errors of metabolism +GARD:0009679,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0009681,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009681,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0009681,GARD:0022512,GARD:0019228,,Rare renal disease +GARD:0009681,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0009681,GARD:0022531,GARD:0019228,,Rare genetic disease +GARD:0009681,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0009682,GARD:0022513,GARD:0013160,,Rare developmental defect during embryogenesis +GARD:0009682,GARD:0022520,GARD:0013160,,Rare ophthalmic disorder +GARD:0009682,GARD:0022511,GARD:0013160,,Rare bone disease +GARD:0009682,GARD:0022531,GARD:0013160,,Rare genetic disease +GARD:0009682,GARD:0022508,GARD:0013160,,Rare inborn errors of metabolism +GARD:0009682,GARD:0022524,GARD:0013160,,Rare neurologic disease +GARD:0009683,GARD:0022508,GARD:0018802,,Rare inborn errors of metabolism +GARD:0009683,GARD:0022531,GARD:0021547,,Rare genetic disease +GARD:0009683,GARD:0022521,GARD:0018802,,Rare endocrine disease +GARD:0009683,GARD:0022531,GARD:0018802,,Rare genetic disease +GARD:0009683,GARD:0022516,GARD:0019843,,Rare gastroenterologic disease +GARD:0009684,GARD:0022516,GARD:0019786,,Rare gastroenterologic disease +GARD:0009684,GARD:0022524,GARD:0021280,,Rare neurologic disease +GARD:0009687,GARD:0022509,GARD:0020046,GARD:0015112,Rare infectious disease +GARD:0009688,GARD:0022520,GARD:0019518,,Rare ophthalmic disorder +GARD:0009688,GARD:0022531,GARD:0022177,,Rare genetic disease +GARD:0009689,GARD:0022524,GARD:0015023,,Rare neurologic disease +GARD:0009689,GARD:0022531,GARD:0015023,,Rare genetic disease +GARD:0009689,GARD:0022520,GARD:0015023,,Rare ophthalmic disorder +GARD:0009689,GARD:0022513,GARD:0015023,,Rare developmental defect during embryogenesis +GARD:0009690,GARD:0022511,GARD:0012704,,Rare bone disease +GARD:0009690,GARD:0022525,GARD:0012704,,Rare systemic or rheumatologic disease +GARD:0009692,GARD:0022513,GARD:0021184,,Rare developmental defect during embryogenesis +GARD:0009692,GARD:0022531,GARD:0021184,,Rare genetic disease +GARD:0009694,GARD:0022510,GARD:0002152,,Rare skin disease +GARD:0009694,GARD:0022513,GARD:0002152,,Rare developmental defect during embryogenesis +GARD:0009694,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0009694,GARD:0022531,GARD:0002152,,Rare genetic disease +GARD:0009696,GARD:0022535,GARD:0019795,,Rare neoplastic disease +GARD:0009696,GARD:0022531,GARD:0020310,,Rare genetic disease +GARD:0009696,GARD:0022520,GARD:0019795,,Rare ophthalmic disorder +GARD:0009697,GARD:0022524,GARD:0019479,,Rare neurologic disease +GARD:0009698,GARD:0022513,GARD:0020906,,Rare developmental defect during embryogenesis +GARD:0009698,GARD:0022531,GARD:0020906,,Rare genetic disease +GARD:0009701,GARD:0022524,GARD:0000017,,Rare neurologic disease +GARD:0009701,GARD:0022521,GARD:0000017,,Rare endocrine disease +GARD:0009701,GARD:0022531,GARD:0000017,,Rare genetic disease +GARD:0009701,GARD:0022513,GARD:0000017,,Rare developmental defect during embryogenesis +GARD:0009703,GARD:0022511,GARD:0006798,,Rare bone disease +GARD:0009703,GARD:0022508,GARD:0006798,,Rare inborn errors of metabolism +GARD:0009703,GARD:0022513,GARD:0006798,,Rare developmental defect during embryogenesis +GARD:0009703,GARD:0022531,GARD:0006798,,Rare genetic disease +GARD:0009704,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009704,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009704,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009705,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0009705,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0009705,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0009706,GARD:0022531,GARD:0022098,,Rare genetic disease +GARD:0009706,GARD:0022520,GARD:0022098,,Rare ophthalmic disorder +GARD:0009706,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0009706,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0009707,GARD:0022531,GARD:0010179,,Rare genetic disease +GARD:0009707,GARD:0022510,GARD:0010179,,Rare skin disease +GARD:0009707,GARD:0022535,GARD:0010179,,Rare neoplastic disease +GARD:0009711,GARD:0022531,GARD:0018969,,Rare genetic disease +GARD:0009711,GARD:0022513,GARD:0018969,,Rare developmental defect during embryogenesis +GARD:0009711,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009711,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0009711,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0009711,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009711,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009711,GARD:0022508,GARD:0018969,,Rare inborn errors of metabolism +GARD:0009715,GARD:0022510,GARD:0010913,,Rare skin disease +GARD:0009715,GARD:0022531,GARD:0010913,,Rare genetic disease +GARD:0009715,GARD:0022520,GARD:0010913,,Rare ophthalmic disorder +GARD:0009723,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0009723,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0009723,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0009723,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0009723,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0009723,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0009725,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0009726,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0009726,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0009728,GARD:0022521,GARD:0020233,,Rare endocrine disease +GARD:0009728,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0009728,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0009728,GARD:0022531,GARD:0020233,,Rare genetic disease +GARD:0009728,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0009728,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0009728,GARD:0022531,GARD:0010419,,Rare genetic disease +GARD:0009728,GARD:0022529,GARD:0020233,,Rare infertility +GARD:0009728,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0009728,GARD:0022524,GARD:0010419,,Rare neurologic disease +GARD:0009729,GARD:0022524,GARD:0019770,,Rare neurologic disease +GARD:0009729,GARD:0022531,GARD:0019770,,Rare genetic disease +GARD:0009730,GARD:0022531,GARD:0020370,,Rare genetic disease +GARD:0009730,GARD:0022531,GARD:0020519,,Rare genetic disease +GARD:0009730,GARD:0022508,GARD:0021333,,Rare inborn errors of metabolism +GARD:0009730,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0009730,GARD:0022515,GARD:0020519,,Rare cardiac disease +GARD:0009730,GARD:0022536,GARD:0020519,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009730,GARD:0022524,GARD:0020370,,Rare neurologic disease +GARD:0009730,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0009730,GARD:0022531,GARD:0021333,,Rare genetic disease +GARD:0009730,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009730,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009730,GARD:0022515,GARD:0020525,,Rare cardiac disease +GARD:0009730,GARD:0022531,GARD:0020525,,Rare genetic disease +GARD:0009732,GARD:0022531,GARD:0022177,,Rare genetic disease +GARD:0009732,GARD:0022520,GARD:0019518,,Rare ophthalmic disorder +GARD:0009733,GARD:0022531,GARD:0010803,,Rare genetic disease +GARD:0009733,GARD:0022513,GARD:0010803,,Rare developmental defect during embryogenesis +GARD:0009733,GARD:0022520,GARD:0010803,,Rare ophthalmic disorder +GARD:0009733,GARD:0022510,GARD:0010803,,Rare skin disease +GARD:0009734,GARD:0022510,GARD:0010803,,Rare skin disease +GARD:0009734,GARD:0022531,GARD:0010803,,Rare genetic disease +GARD:0009734,GARD:0022520,GARD:0010803,,Rare ophthalmic disorder +GARD:0009734,GARD:0022513,GARD:0010803,,Rare developmental defect during embryogenesis +GARD:0009736,GARD:0022513,GARD:0021106,GARD:0015897,Rare developmental defect during embryogenesis +GARD:0009736,GARD:0022531,GARD:0021106,GARD:0015547,Rare genetic disease +GARD:0009736,GARD:0022513,GARD:0021106,GARD:0015187,Rare developmental defect during embryogenesis +GARD:0009736,GARD:0022520,GARD:0021106,GARD:0015393,Rare ophthalmic disorder +GARD:0009736,GARD:0022513,GARD:0021106,GARD:0015895,Rare developmental defect during embryogenesis +GARD:0009736,GARD:0022510,GARD:0021106,GARD:0015547,Rare skin disease +GARD:0009736,GARD:0022531,GARD:0021106,GARD:0015187,Rare genetic disease +GARD:0009736,GARD:0022510,GARD:0021106,GARD:0015896,Rare skin disease +GARD:0009736,GARD:0022520,GARD:0021106,GARD:0015896,Rare ophthalmic disorder +GARD:0009736,GARD:0022510,GARD:0021106,GARD:0015393,Rare skin disease +GARD:0009736,GARD:0022520,GARD:0021106,GARD:0015547,Rare ophthalmic disorder +GARD:0009736,GARD:0022531,GARD:0021106,GARD:0015897,Rare genetic disease +GARD:0009736,GARD:0022513,GARD:0021106,GARD:0015547,Rare developmental defect during embryogenesis +GARD:0009736,GARD:0022520,GARD:0021106,GARD:0015897,Rare ophthalmic disorder +GARD:0009736,GARD:0022531,GARD:0021106,GARD:0015393,Rare genetic disease +GARD:0009736,GARD:0022510,GARD:0021106,GARD:0015187,Rare skin disease +GARD:0009736,GARD:0022510,GARD:0021106,GARD:0015897,Rare skin disease +GARD:0009736,GARD:0022513,GARD:0021106,GARD:0015393,Rare developmental defect during embryogenesis +GARD:0009736,GARD:0022520,GARD:0021106,GARD:0015187,Rare ophthalmic disorder +GARD:0009736,GARD:0022531,GARD:0021106,GARD:0015896,Rare genetic disease +GARD:0009736,GARD:0022513,GARD:0021106,GARD:0015896,Rare developmental defect during embryogenesis +GARD:0009736,GARD:0022531,GARD:0021106,GARD:0015895,Rare genetic disease +GARD:0009736,GARD:0022510,GARD:0021106,GARD:0015895,Rare skin disease +GARD:0009736,GARD:0022520,GARD:0021106,GARD:0015895,Rare ophthalmic disorder +GARD:0009737,GARD:0022531,GARD:0022386,,Rare genetic disease +GARD:0009737,GARD:0022510,GARD:0022386,,Rare skin disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0015609,Rare cardiac disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0015737,Rare cardiac disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0015747,Rare cardiac disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0015544,Rare cardiac disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0015737,Rare genetic disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0015545,Rare genetic disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0015748,Rare cardiac disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0015609,Rare genetic disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0015955,Rare genetic disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0015747,Rare genetic disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0015745,Rare genetic disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0016219,Rare genetic disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0015954,Rare genetic disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0015955,Rare cardiac disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0015748,Rare genetic disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0015446,Rare genetic disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0016010,Rare genetic disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0015954,Rare cardiac disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0015446,Rare cardiac disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0016219,Rare cardiac disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0015516,Rare cardiac disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0015544,Rare genetic disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0016010,Rare cardiac disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0015414,Rare cardiac disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0015545,Rare cardiac disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0015517,Rare genetic disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0015745,Rare cardiac disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0015414,Rare genetic disease +GARD:0009740,GARD:0022515,GARD:0019785,GARD:0015517,Rare cardiac disease +GARD:0009740,GARD:0022531,GARD:0019785,GARD:0015516,Rare genetic disease +GARD:0009741,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009741,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009741,GARD:0022531,GARD:0021304,,Rare genetic disease +GARD:0009741,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0009741,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0009741,GARD:0022508,GARD:0021304,,Rare inborn errors of metabolism +GARD:0009742,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0009744,GARD:0022531,GARD:0018694,,Rare genetic disease +GARD:0009744,GARD:0022510,GARD:0018694,,Rare skin disease +GARD:0009748,GARD:0022512,GARD:0022291,GARD:0009751,Rare renal disease +GARD:0009748,GARD:0022517,GARD:0019793,GARD:0009751,Rare respiratory disease +GARD:0009748,GARD:0022517,GARD:0019793,GARD:0009749,Rare respiratory disease +GARD:0009748,GARD:0022510,GARD:0018705,GARD:0009749,Rare skin disease +GARD:0009748,GARD:0022515,GARD:0020535,GARD:0001053,Rare cardiac disease +GARD:0009748,GARD:0022536,GARD:0022291,GARD:0009749,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009748,GARD:0022515,GARD:0020535,GARD:0009749,Rare cardiac disease +GARD:0009748,GARD:0022525,GARD:0020256,GARD:0009751,Rare systemic or rheumatologic disease +GARD:0009748,GARD:0022512,GARD:0022291,GARD:0001053,Rare renal disease +GARD:0009748,GARD:0021079,GARD:0021082,GARD:0001053,Rare systemic or rheumatological disease of childhood +GARD:0009748,GARD:0022536,GARD:0022291,GARD:0009751,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009748,GARD:0021079,GARD:0021082,GARD:0009751,Rare systemic or rheumatological disease of childhood +GARD:0009748,GARD:0022510,GARD:0018705,GARD:0001053,Rare skin disease +GARD:0009748,GARD:0022510,GARD:0018705,GARD:0009751,Rare skin disease +GARD:0009748,GARD:0022512,GARD:0022291,GARD:0009749,Rare renal disease +GARD:0009748,GARD:0022525,GARD:0020256,GARD:0001053,Rare systemic or rheumatologic disease +GARD:0009748,GARD:0022525,GARD:0020256,GARD:0009749,Rare systemic or rheumatologic disease +GARD:0009748,GARD:0022517,GARD:0019793,GARD:0001053,Rare respiratory disease +GARD:0009748,GARD:0021079,GARD:0021082,GARD:0009749,Rare systemic or rheumatological disease of childhood +GARD:0009748,GARD:0022536,GARD:0022291,GARD:0001053,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009748,GARD:0022515,GARD:0020535,GARD:0009751,Rare cardiac disease +GARD:0009749,GARD:0022510,GARD:0009748,,Rare skin disease +GARD:0009749,GARD:0021079,GARD:0009748,,Rare systemic or rheumatological disease of childhood +GARD:0009749,GARD:0022512,GARD:0009748,,Rare renal disease +GARD:0009749,GARD:0022525,GARD:0009748,,Rare systemic or rheumatologic disease +GARD:0009749,GARD:0022536,GARD:0009748,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009749,GARD:0022517,GARD:0009748,,Rare respiratory disease +GARD:0009749,GARD:0022515,GARD:0009748,,Rare cardiac disease +GARD:0009751,GARD:0022510,GARD:0009748,,Rare skin disease +GARD:0009751,GARD:0022515,GARD:0009748,,Rare cardiac disease +GARD:0009751,GARD:0022512,GARD:0009748,,Rare renal disease +GARD:0009751,GARD:0022517,GARD:0009748,,Rare respiratory disease +GARD:0009751,GARD:0022525,GARD:0009748,,Rare systemic or rheumatologic disease +GARD:0009751,GARD:0021079,GARD:0009748,,Rare systemic or rheumatological disease of childhood +GARD:0009751,GARD:0022536,GARD:0009748,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009755,GARD:0022508,GARD:0006236,,Rare inborn errors of metabolism +GARD:0009755,GARD:0022531,GARD:0006236,,Rare genetic disease +GARD:0009755,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0009755,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009755,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0009756,GARD:0022508,GARD:0006236,,Rare inborn errors of metabolism +GARD:0009756,GARD:0022531,GARD:0019521,,Rare genetic disease +GARD:0009756,GARD:0022520,GARD:0019521,,Rare ophthalmic disorder +GARD:0009756,GARD:0022531,GARD:0006236,,Rare genetic disease +GARD:0009758,GARD:0022517,GARD:0010828,,Rare respiratory disease +GARD:0009758,GARD:0022536,GARD:0010828,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009758,GARD:0022521,GARD:0010828,,Rare endocrine disease +GARD:0009758,GARD:0022511,GARD:0010828,,Rare bone disease +GARD:0009758,GARD:0022513,GARD:0010828,,Rare developmental defect during embryogenesis +GARD:0009758,GARD:0022531,GARD:0010828,,Rare genetic disease +GARD:0009759,GARD:0022531,GARD:0019000,,Rare genetic disease +GARD:0009759,GARD:0022510,GARD:0019000,,Rare skin disease +GARD:0009761,GARD:0022510,GARD:0019000,,Rare skin disease +GARD:0009762,GARD:0022513,GARD:0020815,,Rare developmental defect during embryogenesis +GARD:0009762,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009762,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009762,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009762,GARD:0022531,GARD:0020815,,Rare genetic disease +GARD:0009766,GARD:0022524,GARD:0020090,,Rare neurologic disease +GARD:0009766,GARD:0022524,GARD:0019575,,Rare neurologic disease +GARD:0009766,GARD:0022524,GARD:0020543,,Rare neurologic disease +GARD:0009767,GARD:0022536,GARD:0019849,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009767,GARD:0022516,GARD:0019849,,Rare gastroenterologic disease +GARD:0009769,GARD:0022535,GARD:0020712,,Rare neoplastic disease +GARD:0009769,GARD:0022524,GARD:0020712,,Rare neurologic disease +GARD:0009775,GARD:0022531,GARD:0021341,GARD:0016001,Rare genetic disease +GARD:0009775,GARD:0022531,GARD:0020270,GARD:0016001,Rare genetic disease +GARD:0009775,GARD:0022508,GARD:0021341,GARD:0016001,Rare inborn errors of metabolism +GARD:0009775,GARD:0022510,GARD:0019004,GARD:0016002,Rare skin disease +GARD:0009775,GARD:0022508,GARD:0021341,GARD:0016002,Rare inborn errors of metabolism +GARD:0009775,GARD:0022508,GARD:0021341,GARD:0015944,Rare inborn errors of metabolism +GARD:0009775,GARD:0022531,GARD:0021610,GARD:0015944,Rare genetic disease +GARD:0009775,GARD:0022510,GARD:0021610,GARD:0015944,Rare skin disease +GARD:0009775,GARD:0022531,GARD:0021341,GARD:0016002,Rare genetic disease +GARD:0009775,GARD:0022531,GARD:0021610,GARD:0016001,Rare genetic disease +GARD:0009775,GARD:0022531,GARD:0021610,GARD:0016002,Rare genetic disease +GARD:0009775,GARD:0022531,GARD:0021341,GARD:0015944,Rare genetic disease +GARD:0009775,GARD:0022531,GARD:0020270,GARD:0016002,Rare genetic disease +GARD:0009775,GARD:0022510,GARD:0021610,GARD:0016002,Rare skin disease +GARD:0009775,GARD:0022531,GARD:0020270,GARD:0015944,Rare genetic disease +GARD:0009775,GARD:0022510,GARD:0019004,GARD:0015944,Rare skin disease +GARD:0009775,GARD:0022510,GARD:0021610,GARD:0016001,Rare skin disease +GARD:0009775,GARD:0022510,GARD:0019004,GARD:0016001,Rare skin disease +GARD:0009778,GARD:0022524,GARD:0020417,,Rare neurologic disease +GARD:0009778,GARD:0022524,GARD:0020239,,Rare neurologic disease +GARD:0009778,GARD:0022524,GARD:0020409,,Rare neurologic disease +GARD:0009781,GARD:0022524,GARD:0019832,GARD:0015254,Rare neurologic disease +GARD:0009781,GARD:0022531,GARD:0022441,GARD:0015254,Rare genetic disease +GARD:0009781,GARD:0022531,GARD:0020917,GARD:0015254,Rare genetic disease +GARD:0009781,GARD:0022524,GARD:0019832,GARD:0015266,Rare neurologic disease +GARD:0009781,GARD:0022531,GARD:0020917,GARD:0015266,Rare genetic disease +GARD:0009781,GARD:0022531,GARD:0022441,GARD:0015266,Rare genetic disease +GARD:0009781,GARD:0022513,GARD:0019832,GARD:0015254,Rare developmental defect during embryogenesis +GARD:0009781,GARD:0022513,GARD:0019832,GARD:0015266,Rare developmental defect during embryogenesis +GARD:0009781,GARD:0022513,GARD:0020917,GARD:0015254,Rare developmental defect during embryogenesis +GARD:0009781,GARD:0022513,GARD:0020917,GARD:0015266,Rare developmental defect during embryogenesis +GARD:0009787,GARD:0022511,GARD:0003122,,Rare bone disease +GARD:0009787,GARD:0022510,GARD:0003122,,Rare skin disease +GARD:0009787,GARD:0022531,GARD:0003122,,Rare genetic disease +GARD:0009787,GARD:0022527,GARD:0003122,,Rare circulatory system disease +GARD:0009787,GARD:0022513,GARD:0003122,,Rare developmental defect during embryogenesis +GARD:0009787,GARD:0022520,GARD:0003122,,Rare ophthalmic disorder +GARD:0009789,GARD:0022527,GARD:0020463,GARD:0006542,Rare circulatory system disease +GARD:0009789,GARD:0022527,GARD:0020463,GARD:0021915,Rare circulatory system disease +GARD:0009789,GARD:0022527,GARD:0020463,GARD:0019961,Rare circulatory system disease +GARD:0009789,GARD:0022513,GARD:0020463,GARD:0016898,Rare developmental defect during embryogenesis +GARD:0009789,GARD:0022513,GARD:0020463,GARD:0021915,Rare developmental defect during embryogenesis +GARD:0009789,GARD:0022513,GARD:0020463,GARD:0019961,Rare developmental defect during embryogenesis +GARD:0009789,GARD:0022527,GARD:0020463,GARD:0010467,Rare circulatory system disease +GARD:0009789,GARD:0022513,GARD:0020463,GARD:0006542,Rare developmental defect during embryogenesis +GARD:0009789,GARD:0022527,GARD:0020463,GARD:0016898,Rare circulatory system disease +GARD:0009789,GARD:0022513,GARD:0020463,GARD:0010467,Rare developmental defect during embryogenesis +GARD:0009791,GARD:0022513,GARD:0015024,,Rare developmental defect during embryogenesis +GARD:0009791,GARD:0022531,GARD:0015024,,Rare genetic disease +GARD:0009791,GARD:0022511,GARD:0015024,,Rare bone disease +GARD:0009792,GARD:0022531,GARD:0015024,,Rare genetic disease +GARD:0009792,GARD:0022511,GARD:0015024,,Rare bone disease +GARD:0009792,GARD:0022513,GARD:0015024,,Rare developmental defect during embryogenesis +GARD:0009793,GARD:0022531,GARD:0019188,,Rare genetic disease +GARD:0009793,GARD:0022513,GARD:0010756,,Rare developmental defect during embryogenesis +GARD:0009793,GARD:0022531,GARD:0010756,,Rare genetic disease +GARD:0009793,GARD:0022511,GARD:0010756,,Rare bone disease +GARD:0009794,GARD:0022531,GARD:0010756,,Rare genetic disease +GARD:0009794,GARD:0022513,GARD:0010756,,Rare developmental defect during embryogenesis +GARD:0009794,GARD:0022511,GARD:0010756,,Rare bone disease +GARD:0009795,GARD:0022531,GARD:0021293,,Rare genetic disease +GARD:0009795,GARD:0022531,GARD:0021803,,Rare genetic disease +GARD:0009795,GARD:0022510,GARD:0021293,,Rare skin disease +GARD:0009795,GARD:0022536,GARD:0005847,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009795,GARD:0022510,GARD:0021803,,Rare skin disease +GARD:0009795,GARD:0022515,GARD:0005847,,Rare cardiac disease +GARD:0009795,GARD:0022531,GARD:0005847,,Rare genetic disease +GARD:0009796,GARD:0022523,GARD:0020116,,Rare immune disease +GARD:0009796,GARD:0022531,GARD:0020633,,Rare genetic disease +GARD:0009796,GARD:0022535,GARD:0020633,,Rare neoplastic disease +GARD:0009796,GARD:0022536,GARD:0020116,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009796,GARD:0022531,GARD:0020116,,Rare genetic disease +GARD:0009796,GARD:0022536,GARD:0020633,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009796,GARD:0022523,GARD:0020633,,Rare immune disease +GARD:0009797,GARD:0022531,GARD:0020633,,Rare genetic disease +GARD:0009797,GARD:0022523,GARD:0020633,,Rare immune disease +GARD:0009797,GARD:0022535,GARD:0020633,,Rare neoplastic disease +GARD:0009797,GARD:0022536,GARD:0020633,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009798,GARD:0022531,GARD:0020301,GARD:0015346,Rare genetic disease +GARD:0009798,GARD:0022513,GARD:0019907,GARD:0015583,Rare developmental defect during embryogenesis +GARD:0009798,GARD:0022507,GARD:0019979,GARD:0015346,Rare maxillo-facial surgical disease +GARD:0009798,GARD:0022511,GARD:0019979,GARD:0016003,Rare bone disease +GARD:0009798,GARD:0022513,GARD:0019907,GARD:0015831,Rare developmental defect during embryogenesis +GARD:0009798,GARD:0022511,GARD:0019979,GARD:0015346,Rare bone disease +GARD:0009798,GARD:0022511,GARD:0019979,GARD:0015583,Rare bone disease +GARD:0009798,GARD:0022531,GARD:0020301,GARD:0016003,Rare genetic disease +GARD:0009798,GARD:0022531,GARD:0019979,GARD:0015831,Rare genetic disease +GARD:0009798,GARD:0022513,GARD:0019979,GARD:0015583,Rare developmental defect during embryogenesis +GARD:0009798,GARD:0022531,GARD:0019979,GARD:0016003,Rare genetic disease +GARD:0009798,GARD:0022507,GARD:0019979,GARD:0015831,Rare maxillo-facial surgical disease +GARD:0009798,GARD:0022513,GARD:0019979,GARD:0015831,Rare developmental defect during embryogenesis +GARD:0009798,GARD:0022531,GARD:0019979,GARD:0015346,Rare genetic disease +GARD:0009798,GARD:0022513,GARD:0019979,GARD:0015346,Rare developmental defect during embryogenesis +GARD:0009798,GARD:0022531,GARD:0020301,GARD:0015583,Rare genetic disease +GARD:0009798,GARD:0022507,GARD:0019979,GARD:0015583,Rare maxillo-facial surgical disease +GARD:0009798,GARD:0022531,GARD:0019979,GARD:0015583,Rare genetic disease +GARD:0009798,GARD:0022513,GARD:0019907,GARD:0016003,Rare developmental defect during embryogenesis +GARD:0009798,GARD:0022528,GARD:0019979,GARD:0015583,Rare otorhinolaryngologic disease +GARD:0009798,GARD:0022528,GARD:0019979,GARD:0015346,Rare otorhinolaryngologic disease +GARD:0009798,GARD:0022507,GARD:0019979,GARD:0016003,Rare maxillo-facial surgical disease +GARD:0009798,GARD:0022513,GARD:0019979,GARD:0016003,Rare developmental defect during embryogenesis +GARD:0009798,GARD:0022528,GARD:0019979,GARD:0016003,Rare otorhinolaryngologic disease +GARD:0009798,GARD:0022531,GARD:0020301,GARD:0015831,Rare genetic disease +GARD:0009798,GARD:0022513,GARD:0019907,GARD:0015346,Rare developmental defect during embryogenesis +GARD:0009798,GARD:0022528,GARD:0019979,GARD:0015831,Rare otorhinolaryngologic disease +GARD:0009798,GARD:0022511,GARD:0019979,GARD:0015831,Rare bone disease +GARD:0009799,GARD:0022510,GARD:0020574,,Rare skin disease +GARD:0009799,GARD:0022531,GARD:0020574,,Rare genetic disease +GARD:0009802,GARD:0022536,GARD:0015255,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009802,GARD:0022506,GARD:0015255,,Rare hepatic disease +GARD:0009802,GARD:0022531,GARD:0015255,,Rare genetic disease +GARD:0009802,GARD:0022508,GARD:0015255,,Rare inborn errors of metabolism +GARD:0009803,GARD:0022531,GARD:0015255,,Rare genetic disease +GARD:0009803,GARD:0022508,GARD:0015255,,Rare inborn errors of metabolism +GARD:0009803,GARD:0022536,GARD:0015255,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009803,GARD:0022506,GARD:0015255,,Rare hepatic disease +GARD:0009804,GARD:0022514,GARD:0020049,GARD:0015888,Rare gynecologic or obstetric disease +GARD:0009804,GARD:0022514,GARD:0020049,GARD:0015079,Rare gynecologic or obstetric disease +GARD:0009804,GARD:0022506,GARD:0019790,GARD:0015888,Rare hepatic disease +GARD:0009804,GARD:0022506,GARD:0019790,GARD:0015079,Rare hepatic disease +GARD:0009806,GARD:0022531,GARD:0020258,,Rare genetic disease +GARD:0009806,GARD:0022530,GARD:0019012,,Rare allergic disease +GARD:0009806,GARD:0022510,GARD:0019012,,Rare skin disease +GARD:0009808,GARD:0022524,GARD:0020706,GARD:0020710,Rare neurologic disease +GARD:0009808,GARD:0022535,GARD:0020706,GARD:0020710,Rare neoplastic disease +GARD:0009809,GARD:0022536,GARD:0020133,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009809,GARD:0022535,GARD:0020133,,Rare neoplastic disease +GARD:0009809,GARD:0022522,GARD:0020133,,Rare hematologic disease +GARD:0009809,GARD:0022516,GARD:0021760,,Rare gastroenterologic disease +GARD:0009809,GARD:0022535,GARD:0021760,,Rare neoplastic disease +GARD:0009809,GARD:0022536,GARD:0021760,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009810,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0009810,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0009810,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0009811,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009811,GARD:0022521,GARD:0020233,,Rare endocrine disease +GARD:0009811,GARD:0022529,GARD:0020233,,Rare infertility +GARD:0009811,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009811,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009811,GARD:0022531,GARD:0020312,,Rare genetic disease +GARD:0009811,GARD:0022531,GARD:0020233,,Rare genetic disease +GARD:0009811,GARD:0022521,GARD:0020215,,Rare endocrine disease +GARD:0009812,GARD:0022522,GARD:0022073,,Rare hematologic disease +GARD:0009812,GARD:0022536,GARD:0022073,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009812,GARD:0022535,GARD:0022073,,Rare neoplastic disease +GARD:0009812,GARD:0022523,GARD:0020167,,Rare immune disease +GARD:0009813,GARD:0022531,GARD:0021996,,Rare genetic disease +GARD:0009813,GARD:0022506,GARD:0021996,,Rare hepatic disease +GARD:0009813,GARD:0022508,GARD:0021996,,Rare inborn errors of metabolism +GARD:0009813,GARD:0022536,GARD:0021996,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009814,GARD:0022524,GARD:0012590,,Rare neurologic disease +GARD:0009814,GARD:0022520,GARD:0012590,,Rare ophthalmic disorder +GARD:0009814,GARD:0022531,GARD:0012590,,Rare genetic disease +GARD:0009814,GARD:0022513,GARD:0012590,,Rare developmental defect during embryogenesis +GARD:0009817,GARD:0022531,GARD:0012144,,Rare genetic disease +GARD:0009817,GARD:0022508,GARD:0012144,,Rare inborn errors of metabolism +GARD:0009817,GARD:0022524,GARD:0012144,,Rare neurologic disease +GARD:0009818,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0009818,GARD:0022524,GARD:0021596,,Rare neurologic disease +GARD:0009818,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0009818,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0009818,GARD:0022531,GARD:0021596,,Rare genetic disease +GARD:0009818,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0009818,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0009818,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0009818,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0009820,GARD:0022522,GARD:0020678,,Rare hematologic disease +GARD:0009820,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0009821,GARD:0022531,GARD:0022097,GARD:0016890,Rare genetic disease +GARD:0009821,GARD:0022531,GARD:0022097,GARD:0016891,Rare genetic disease +GARD:0009821,GARD:0022531,GARD:0022097,GARD:0019613,Rare genetic disease +GARD:0009821,GARD:0022520,GARD:0022097,GARD:0019612,Rare ophthalmic disorder +GARD:0009821,GARD:0022520,GARD:0022097,GARD:0019613,Rare ophthalmic disorder +GARD:0009821,GARD:0022520,GARD:0022097,GARD:0016890,Rare ophthalmic disorder +GARD:0009821,GARD:0022520,GARD:0022097,GARD:0010909,Rare ophthalmic disorder +GARD:0009821,GARD:0022531,GARD:0022097,GARD:0010909,Rare genetic disease +GARD:0009821,GARD:0022531,GARD:0022097,GARD:0019612,Rare genetic disease +GARD:0009821,GARD:0022520,GARD:0022097,GARD:0016891,Rare ophthalmic disorder +GARD:0009826,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0009826,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009826,GARD:0022506,GARD:0021605,,Rare hepatic disease +GARD:0009826,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009826,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0009826,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0009826,GARD:0022531,GARD:0021610,,Rare genetic disease +GARD:0009826,GARD:0022510,GARD:0021610,,Rare skin disease +GARD:0009826,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0009826,GARD:0022531,GARD:0021605,,Rare genetic disease +GARD:0009827,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0009827,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0009827,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009827,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009827,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0009827,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0009828,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0009828,GARD:0022519,GARD:0021607,,Rare surgical cardiac disease +GARD:0009828,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0009828,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009828,GARD:0022513,GARD:0021607,,Rare developmental defect during embryogenesis +GARD:0009828,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0009828,GARD:0022531,GARD:0021607,,Rare genetic disease +GARD:0009828,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0009828,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009829,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0009829,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0009829,GARD:0022516,GARD:0021608,,Rare gastroenterologic disease +GARD:0009829,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0009829,GARD:0022531,GARD:0021608,,Rare genetic disease +GARD:0009829,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009829,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009829,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0009830,GARD:0022531,GARD:0021608,,Rare genetic disease +GARD:0009830,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009830,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009830,GARD:0022506,GARD:0021605,,Rare hepatic disease +GARD:0009830,GARD:0022516,GARD:0021608,,Rare gastroenterologic disease +GARD:0009830,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0009830,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0009830,GARD:0022531,GARD:0021605,,Rare genetic disease +GARD:0009831,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0009831,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0009831,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009831,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0009831,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009831,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0009832,GARD:0022531,GARD:0021610,,Rare genetic disease +GARD:0009832,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009832,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0009832,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009832,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0009832,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0009832,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0009832,GARD:0022510,GARD:0021610,,Rare skin disease +GARD:0009833,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0009833,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0009833,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009833,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0009833,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0009833,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009834,GARD:0022531,GARD:0021605,,Rare genetic disease +GARD:0009834,GARD:0022516,GARD:0021608,,Rare gastroenterologic disease +GARD:0009834,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0009834,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009834,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0009834,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0009834,GARD:0022506,GARD:0021605,,Rare hepatic disease +GARD:0009834,GARD:0022512,GARD:0021611,,Rare renal disease +GARD:0009834,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0009834,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009834,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0009834,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0009834,GARD:0022531,GARD:0021608,,Rare genetic disease +GARD:0009834,GARD:0022531,GARD:0021611,,Rare genetic disease +GARD:0009835,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0009835,GARD:0022518,GARD:0020212,,Rare surgical thoracic disease +GARD:0009835,GARD:0022513,GARD:0020906,,Rare developmental defect during embryogenesis +GARD:0009835,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0009835,GARD:0022531,GARD:0020906,,Rare genetic disease +GARD:0009836,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0009836,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009836,GARD:0022531,GARD:0021605,,Rare genetic disease +GARD:0009836,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0009836,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0009836,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0009836,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0009836,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009836,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0009836,GARD:0022506,GARD:0021605,,Rare hepatic disease +GARD:0009837,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009837,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0009837,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0009837,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009837,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0009837,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0009838,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0009838,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0009838,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009838,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009838,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0009838,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0009839,GARD:0022531,GARD:0021335,GARD:0015223,Rare genetic disease +GARD:0009839,GARD:0022524,GARD:0022440,GARD:0015223,Rare neurologic disease +GARD:0009839,GARD:0022524,GARD:0021604,GARD:0015223,Rare neurologic disease +GARD:0009839,GARD:0022506,GARD:0021605,GARD:0015223,Rare hepatic disease +GARD:0009839,GARD:0022531,GARD:0022440,GARD:0015223,Rare genetic disease +GARD:0009839,GARD:0022531,GARD:0021604,GARD:0015223,Rare genetic disease +GARD:0009839,GARD:0022508,GARD:0021335,GARD:0015223,Rare inborn errors of metabolism +GARD:0009839,GARD:0022531,GARD:0021605,GARD:0015223,Rare genetic disease +GARD:0009841,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0009841,GARD:0022531,GARD:0021009,,Rare genetic disease +GARD:0009841,GARD:0022531,GARD:0021605,,Rare genetic disease +GARD:0009841,GARD:0022506,GARD:0021605,,Rare hepatic disease +GARD:0009841,GARD:0022513,GARD:0012782,,Rare developmental defect during embryogenesis +GARD:0009841,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0009841,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0009841,GARD:0022531,GARD:0012782,,Rare genetic disease +GARD:0009841,GARD:0022513,GARD:0021002,,Rare developmental defect during embryogenesis +GARD:0009841,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0009841,GARD:0022524,GARD:0021002,,Rare neurologic disease +GARD:0009842,GARD:0022531,GARD:0021607,,Rare genetic disease +GARD:0009842,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009842,GARD:0022508,GARD:0021344,,Rare inborn errors of metabolism +GARD:0009842,GARD:0022531,GARD:0021344,,Rare genetic disease +GARD:0009842,GARD:0022519,GARD:0021607,,Rare surgical cardiac disease +GARD:0009842,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009842,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0009842,GARD:0022513,GARD:0021607,,Rare developmental defect during embryogenesis +GARD:0009842,GARD:0022531,GARD:0021610,,Rare genetic disease +GARD:0009842,GARD:0022510,GARD:0021610,,Rare skin disease +GARD:0009842,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009842,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0009843,GARD:0022531,GARD:0020682,,Rare genetic disease +GARD:0009843,GARD:0022522,GARD:0019466,,Rare hematologic disease +GARD:0009844,GARD:0022513,GARD:0019197,,Rare developmental defect during embryogenesis +GARD:0009844,GARD:0022524,GARD:0021450,,Rare neurologic disease +GARD:0009844,GARD:0022524,GARD:0021965,,Rare neurologic disease +GARD:0009844,GARD:0022531,GARD:0019197,,Rare genetic disease +GARD:0009844,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0009844,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0009844,GARD:0022531,GARD:0021450,,Rare genetic disease +GARD:0009844,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0009844,GARD:0022513,GARD:0021450,,Rare developmental defect during embryogenesis +GARD:0009844,GARD:0022511,GARD:0019197,,Rare bone disease +GARD:0009844,GARD:0022531,GARD:0021965,,Rare genetic disease +GARD:0009846,GARD:0022531,GARD:0020529,,Rare genetic disease +GARD:0009846,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0009846,GARD:0022513,GARD:0020573,,Rare developmental defect during embryogenesis +GARD:0009846,GARD:0022536,GARD:0020529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009846,GARD:0022515,GARD:0020529,,Rare cardiac disease +GARD:0009846,GARD:0022531,GARD:0020573,,Rare genetic disease +GARD:0009846,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0009846,GARD:0022531,GARD:0021240,,Rare genetic disease +GARD:0009846,GARD:0022511,GARD:0020573,,Rare bone disease +GARD:0009847,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0009847,GARD:0022531,GARD:0020573,,Rare genetic disease +GARD:0009847,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0009847,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0009847,GARD:0022513,GARD:0020573,,Rare developmental defect during embryogenesis +GARD:0009847,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0009847,GARD:0022511,GARD:0020573,,Rare bone disease +GARD:0009848,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0009848,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0009848,GARD:0022508,GARD:0021156,,Rare inborn errors of metabolism +GARD:0009848,GARD:0022531,GARD:0021156,,Rare genetic disease +GARD:0009849,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0009849,GARD:0022534,GARD:0022248,,Rare abdominal surgical disease +GARD:0009849,GARD:0022531,GARD:0022248,,Rare genetic disease +GARD:0009849,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0009849,GARD:0022536,GARD:0019846,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009849,GARD:0022536,GARD:0022248,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009849,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009849,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0009849,GARD:0022516,GARD:0019846,,Rare gastroenterologic disease +GARD:0009849,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009849,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0009849,GARD:0022513,GARD:0022248,,Rare developmental defect during embryogenesis +GARD:0009849,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0009849,GARD:0022531,GARD:0019846,,Rare genetic disease +GARD:0009849,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0009849,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009849,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0009850,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0009850,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0009850,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009850,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009850,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009863,GARD:0022513,GARD:0009225,,Rare developmental defect during embryogenesis +GARD:0009863,GARD:0022511,GARD:0009225,,Rare bone disease +GARD:0009863,GARD:0022531,GARD:0009225,,Rare genetic disease +GARD:0009866,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0009866,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0009866,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0009866,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0009866,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0009866,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0009867,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0009867,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0009867,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009867,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009870,GARD:0022524,GARD:0020554,,Rare neurologic disease +GARD:0009870,GARD:0022508,GARD:0021319,,Rare inborn errors of metabolism +GARD:0009870,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0009870,GARD:0022531,GARD:0020067,,Rare genetic disease +GARD:0009870,GARD:0022521,GARD:0020067,,Rare endocrine disease +GARD:0009870,GARD:0022531,GARD:0020554,,Rare genetic disease +GARD:0009870,GARD:0022513,GARD:0020067,,Rare developmental defect during embryogenesis +GARD:0009870,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0009870,GARD:0022531,GARD:0021319,,Rare genetic disease +GARD:0009873,GARD:0022524,GARD:0020974,,Rare neurologic disease +GARD:0009873,GARD:0022531,GARD:0020974,,Rare genetic disease +GARD:0009873,GARD:0022513,GARD:0020974,,Rare developmental defect during embryogenesis +GARD:0009874,GARD:0022524,GARD:0017273,,Rare neurologic disease +GARD:0009874,GARD:0022531,GARD:0017273,,Rare genetic disease +GARD:0009874,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0009876,GARD:0022518,GARD:0002249,,Rare surgical thoracic disease +GARD:0009876,GARD:0022531,GARD:0002249,,Rare genetic disease +GARD:0009876,GARD:0022527,GARD:0002249,,Rare circulatory system disease +GARD:0009876,GARD:0022525,GARD:0002249,,Rare systemic or rheumatologic disease +GARD:0009879,GARD:0022511,GARD:0000006,,Rare bone disease +GARD:0009879,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0009879,GARD:0022531,GARD:0000006,,Rare genetic disease +GARD:0009879,GARD:0022513,GARD:0000006,,Rare developmental defect during embryogenesis +GARD:0009879,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0009879,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0009882,GARD:0022531,GARD:0020226,GARD:0015830,Rare genetic disease +GARD:0009882,GARD:0022531,GARD:0020226,GARD:0015375,Rare genetic disease +GARD:0009882,GARD:0022514,GARD:0020200,GARD:0015375,Rare gynecologic or obstetric disease +GARD:0009882,GARD:0022521,GARD:0020226,GARD:0015830,Rare endocrine disease +GARD:0009882,GARD:0022514,GARD:0020200,GARD:0015830,Rare gynecologic or obstetric disease +GARD:0009882,GARD:0022531,GARD:0020341,GARD:0015830,Rare genetic disease +GARD:0009882,GARD:0022531,GARD:0020341,GARD:0015375,Rare genetic disease +GARD:0009882,GARD:0022521,GARD:0020226,GARD:0015375,Rare endocrine disease +GARD:0009884,GARD:0022535,GARD:0009351,,Rare neoplastic disease +GARD:0009884,GARD:0022536,GARD:0009351,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009884,GARD:0022522,GARD:0009351,,Rare hematologic disease +GARD:0009885,GARD:0022527,GARD:0010955,,Rare circulatory system disease +GARD:0009885,GARD:0022531,GARD:0010955,,Rare genetic disease +GARD:0009885,GARD:0022535,GARD:0010955,,Rare neoplastic disease +GARD:0009885,GARD:0022529,GARD:0010955,,Rare infertility +GARD:0009885,GARD:0022524,GARD:0010955,,Rare neurologic disease +GARD:0009885,GARD:0022511,GARD:0010955,,Rare bone disease +GARD:0009885,GARD:0022510,GARD:0010955,,Rare skin disease +GARD:0009885,GARD:0022513,GARD:0010955,,Rare developmental defect during embryogenesis +GARD:0009885,GARD:0022520,GARD:0010955,,Rare ophthalmic disorder +GARD:0009885,GARD:0022521,GARD:0010955,,Rare endocrine disease +GARD:0009885,GARD:0022515,GARD:0010955,,Rare cardiac disease +GARD:0009885,GARD:0022536,GARD:0010955,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009885,GARD:0022512,GARD:0010955,,Rare renal disease +GARD:0009885,GARD:0022519,GARD:0010955,,Rare surgical cardiac disease +GARD:0009886,GARD:0022531,GARD:0021114,,Rare genetic disease +GARD:0009886,GARD:0022510,GARD:0021114,,Rare skin disease +GARD:0009887,GARD:0022520,GARD:0022097,,Rare ophthalmic disorder +GARD:0009887,GARD:0022531,GARD:0022097,,Rare genetic disease +GARD:0009888,GARD:0022524,GARD:0007513,,Rare neurologic disease +GARD:0009888,GARD:0022508,GARD:0007513,,Rare inborn errors of metabolism +GARD:0009888,GARD:0022531,GARD:0007513,,Rare genetic disease +GARD:0009890,GARD:0022508,GARD:0020760,GARD:0016399,Rare inborn errors of metabolism +GARD:0009890,GARD:0022508,GARD:0020760,GARD:0010201,Rare inborn errors of metabolism +GARD:0009890,GARD:0022531,GARD:0020760,GARD:0016399,Rare genetic disease +GARD:0009890,GARD:0022508,GARD:0011972,GARD:0015099,Rare inborn errors of metabolism +GARD:0009890,GARD:0022531,GARD:0020760,GARD:0010201,Rare genetic disease +GARD:0009890,GARD:0022508,GARD:0020760,GARD:0015379,Rare inborn errors of metabolism +GARD:0009890,GARD:0022520,GARD:0011972,GARD:0010201,Rare ophthalmic disorder +GARD:0009890,GARD:0022531,GARD:0011972,GARD:0015099,Rare genetic disease +GARD:0009890,GARD:0022508,GARD:0011972,GARD:0010201,Rare inborn errors of metabolism +GARD:0009890,GARD:0022508,GARD:0011972,GARD:0015379,Rare inborn errors of metabolism +GARD:0009890,GARD:0022520,GARD:0011972,GARD:0015099,Rare ophthalmic disorder +GARD:0009890,GARD:0022531,GARD:0011972,GARD:0016399,Rare genetic disease +GARD:0009890,GARD:0022531,GARD:0020760,GARD:0015379,Rare genetic disease +GARD:0009890,GARD:0022508,GARD:0011972,GARD:0016399,Rare inborn errors of metabolism +GARD:0009890,GARD:0022531,GARD:0011972,GARD:0015379,Rare genetic disease +GARD:0009890,GARD:0022520,GARD:0011972,GARD:0016399,Rare ophthalmic disorder +GARD:0009890,GARD:0022531,GARD:0020760,GARD:0015099,Rare genetic disease +GARD:0009890,GARD:0022520,GARD:0011972,GARD:0015379,Rare ophthalmic disorder +GARD:0009890,GARD:0022508,GARD:0020760,GARD:0015099,Rare inborn errors of metabolism +GARD:0009890,GARD:0022531,GARD:0011972,GARD:0010201,Rare genetic disease +GARD:0009892,GARD:0022520,GARD:0016887,,Rare ophthalmic disorder +GARD:0009892,GARD:0022513,GARD:0016887,,Rare developmental defect during embryogenesis +GARD:0009892,GARD:0022531,GARD:0016887,,Rare genetic disease +GARD:0009895,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0009895,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0009895,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0009895,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0009898,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009898,GARD:0022524,GARD:0019415,,Rare neurologic disease +GARD:0009898,GARD:0022531,GARD:0019415,,Rare genetic disease +GARD:0009898,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009900,GARD:0022517,GARD:0020923,,Rare respiratory disease +GARD:0009900,GARD:0022536,GARD:0020923,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009900,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0009900,GARD:0022518,GARD:0019867,,Rare surgical thoracic disease +GARD:0009900,GARD:0022531,GARD:0020944,,Rare genetic disease +GARD:0009900,GARD:0022513,GARD:0019867,,Rare developmental defect during embryogenesis +GARD:0009901,GARD:0022520,GARD:0006626,,Rare ophthalmic disorder +GARD:0009901,GARD:0022531,GARD:0006626,,Rare genetic disease +GARD:0009901,GARD:0022517,GARD:0006626,,Rare respiratory disease +GARD:0009901,GARD:0022524,GARD:0006626,,Rare neurologic disease +GARD:0009901,GARD:0022513,GARD:0006626,,Rare developmental defect during embryogenesis +GARD:0009901,GARD:0022525,GARD:0006626,,Rare systemic or rheumatologic disease +GARD:0009901,GARD:0022510,GARD:0006626,,Rare skin disease +GARD:0009901,GARD:0022506,GARD:0006626,,Rare hepatic disease +GARD:0009901,GARD:0022527,GARD:0006626,,Rare circulatory system disease +GARD:0009902,GARD:0022531,GARD:0006626,,Rare genetic disease +GARD:0009902,GARD:0022506,GARD:0006626,,Rare hepatic disease +GARD:0009902,GARD:0022524,GARD:0006626,,Rare neurologic disease +GARD:0009902,GARD:0022513,GARD:0006626,,Rare developmental defect during embryogenesis +GARD:0009902,GARD:0022510,GARD:0006626,,Rare skin disease +GARD:0009902,GARD:0022525,GARD:0006626,,Rare systemic or rheumatologic disease +GARD:0009902,GARD:0022517,GARD:0006626,,Rare respiratory disease +GARD:0009902,GARD:0022520,GARD:0006626,,Rare ophthalmic disorder +GARD:0009902,GARD:0022527,GARD:0006626,,Rare circulatory system disease +GARD:0009903,GARD:0022531,GARD:0022026,,Rare genetic disease +GARD:0009903,GARD:0022513,GARD:0022026,,Rare developmental defect during embryogenesis +GARD:0009903,GARD:0022511,GARD:0022026,,Rare bone disease +GARD:0009904,GARD:0022514,GARD:0019294,,Rare gynecologic or obstetric disease +GARD:0009904,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0009904,GARD:0022510,GARD:0021114,,Rare skin disease +GARD:0009904,GARD:0022531,GARD:0021114,,Rare genetic disease +GARD:0009904,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0009904,GARD:0022521,GARD:0019294,,Rare endocrine disease +GARD:0009904,GARD:0022529,GARD:0021682,,Rare infertility +GARD:0009904,GARD:0022531,GARD:0021992,,Rare genetic disease +GARD:0009904,GARD:0022531,GARD:0021693,,Rare genetic disease +GARD:0009904,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0009905,GARD:0022531,GARD:0008533,GARD:0015052,Rare genetic disease +GARD:0009905,GARD:0022535,GARD:0008533,GARD:0015638,Rare neoplastic disease +GARD:0009905,GARD:0022516,GARD:0008533,GARD:0015792,Rare gastroenterologic disease +GARD:0009905,GARD:0022516,GARD:0008533,GARD:0015799,Rare gastroenterologic disease +GARD:0009905,GARD:0022535,GARD:0008533,GARD:0015792,Rare neoplastic disease +GARD:0009905,GARD:0022516,GARD:0008533,GARD:0015638,Rare gastroenterologic disease +GARD:0009905,GARD:0022531,GARD:0008533,GARD:0015799,Rare genetic disease +GARD:0009905,GARD:0022531,GARD:0008533,GARD:0015792,Rare genetic disease +GARD:0009905,GARD:0022535,GARD:0008533,GARD:0015799,Rare neoplastic disease +GARD:0009905,GARD:0022516,GARD:0008533,GARD:0015457,Rare gastroenterologic disease +GARD:0009905,GARD:0022531,GARD:0008533,GARD:0015789,Rare genetic disease +GARD:0009905,GARD:0022516,GARD:0008533,GARD:0015789,Rare gastroenterologic disease +GARD:0009905,GARD:0022531,GARD:0008533,GARD:0015457,Rare genetic disease +GARD:0009905,GARD:0022535,GARD:0008533,GARD:0015789,Rare neoplastic disease +GARD:0009905,GARD:0022535,GARD:0008533,GARD:0015457,Rare neoplastic disease +GARD:0009905,GARD:0022516,GARD:0008533,GARD:0015052,Rare gastroenterologic disease +GARD:0009905,GARD:0022531,GARD:0008533,GARD:0015638,Rare genetic disease +GARD:0009905,GARD:0022531,GARD:0008533,GARD:0015791,Rare genetic disease +GARD:0009905,GARD:0022535,GARD:0008533,GARD:0015791,Rare neoplastic disease +GARD:0009905,GARD:0022516,GARD:0008533,GARD:0015791,Rare gastroenterologic disease +GARD:0009905,GARD:0022535,GARD:0008533,GARD:0015052,Rare neoplastic disease +GARD:0009909,GARD:0022531,GARD:0016556,,Rare genetic disease +GARD:0009909,GARD:0022513,GARD:0016556,,Rare developmental defect during embryogenesis +GARD:0009909,GARD:0022524,GARD:0016556,,Rare neurologic disease +GARD:0009910,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0009910,GARD:0022531,GARD:0018991,,Rare genetic disease +GARD:0009911,GARD:0022531,GARD:0016582,,Rare genetic disease +GARD:0009911,GARD:0022526,GARD:0016582,,Rare odontologic disease +GARD:0009912,GARD:0022524,GARD:0022440,GARD:0016295,Rare neurologic disease +GARD:0009912,GARD:0022524,GARD:0022440,GARD:0013197,Rare neurologic disease +GARD:0009912,GARD:0022531,GARD:0019437,GARD:0016094,Rare genetic disease +GARD:0009912,GARD:0022531,GARD:0019437,GARD:0013197,Rare genetic disease +GARD:0009912,GARD:0022531,GARD:0019574,GARD:0016295,Rare genetic disease +GARD:0009912,GARD:0022531,GARD:0022440,GARD:0016192,Rare genetic disease +GARD:0009912,GARD:0022531,GARD:0019574,GARD:0016192,Rare genetic disease +GARD:0009912,GARD:0022524,GARD:0019437,GARD:0016094,Rare neurologic disease +GARD:0009912,GARD:0022531,GARD:0019569,GARD:0016192,Rare genetic disease +GARD:0009912,GARD:0022531,GARD:0019437,GARD:0016295,Rare genetic disease +GARD:0009912,GARD:0022531,GARD:0019569,GARD:0016094,Rare genetic disease +GARD:0009912,GARD:0022531,GARD:0019569,GARD:0016295,Rare genetic disease +GARD:0009912,GARD:0022531,GARD:0022440,GARD:0016295,Rare genetic disease +GARD:0009912,GARD:0022531,GARD:0022440,GARD:0016094,Rare genetic disease +GARD:0009912,GARD:0022531,GARD:0019437,GARD:0016192,Rare genetic disease +GARD:0009912,GARD:0022531,GARD:0019574,GARD:0013197,Rare genetic disease +GARD:0009912,GARD:0022531,GARD:0022440,GARD:0013197,Rare genetic disease +GARD:0009912,GARD:0022531,GARD:0019569,GARD:0013197,Rare genetic disease +GARD:0009912,GARD:0022524,GARD:0022440,GARD:0016094,Rare neurologic disease +GARD:0009912,GARD:0022524,GARD:0019437,GARD:0016192,Rare neurologic disease +GARD:0009912,GARD:0022531,GARD:0019574,GARD:0016094,Rare genetic disease +GARD:0009912,GARD:0022524,GARD:0019437,GARD:0013197,Rare neurologic disease +GARD:0009912,GARD:0022524,GARD:0019437,GARD:0016295,Rare neurologic disease +GARD:0009912,GARD:0022524,GARD:0022440,GARD:0016192,Rare neurologic disease +GARD:0009914,GARD:0022536,GARD:0015019,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009914,GARD:0022531,GARD:0015019,,Rare genetic disease +GARD:0009914,GARD:0022512,GARD:0015019,,Rare renal disease +GARD:0009916,GARD:0022511,GARD:0003836,,Rare bone disease +GARD:0009916,GARD:0022513,GARD:0003836,,Rare developmental defect during embryogenesis +GARD:0009916,GARD:0022528,GARD:0003836,,Rare otorhinolaryngologic disease +GARD:0009916,GARD:0022531,GARD:0003836,,Rare genetic disease +GARD:0009918,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0009918,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0009919,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0009919,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0009920,GARD:0022524,GARD:0020556,,Rare neurologic disease +GARD:0009920,GARD:0022508,GARD:0021520,,Rare inborn errors of metabolism +GARD:0009920,GARD:0022524,GARD:0020555,,Rare neurologic disease +GARD:0009920,GARD:0022531,GARD:0020556,,Rare genetic disease +GARD:0009920,GARD:0022531,GARD:0018967,,Rare genetic disease +GARD:0009920,GARD:0022531,GARD:0021520,,Rare genetic disease +GARD:0009920,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0009920,GARD:0022508,GARD:0018967,,Rare inborn errors of metabolism +GARD:0009920,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0009920,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0009920,GARD:0022531,GARD:0022158,,Rare genetic disease +GARD:0009920,GARD:0022531,GARD:0020555,,Rare genetic disease +GARD:0009920,GARD:0022516,GARD:0019850,,Rare gastroenterologic disease +GARD:0009920,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0009920,GARD:0022531,GARD:0019850,,Rare genetic disease +GARD:0009920,GARD:0022520,GARD:0022118,,Rare ophthalmic disorder +GARD:0009920,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0009921,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0009921,GARD:0022531,GARD:0021039,,Rare genetic disease +GARD:0009921,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0009921,GARD:0022524,GARD:0019484,,Rare neurologic disease +GARD:0009921,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0009921,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0009921,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0009922,GARD:0022523,GARD:0006589,,Rare immune disease +GARD:0009922,GARD:0022536,GARD:0006589,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009922,GARD:0022531,GARD:0006589,,Rare genetic disease +GARD:0009922,GARD:0022524,GARD:0006589,,Rare neurologic disease +GARD:0009928,GARD:0022536,GARD:0006589,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009928,GARD:0022524,GARD:0006589,,Rare neurologic disease +GARD:0009928,GARD:0022531,GARD:0006589,,Rare genetic disease +GARD:0009928,GARD:0022523,GARD:0006589,,Rare immune disease +GARD:0009929,GARD:0022523,GARD:0006589,,Rare immune disease +GARD:0009929,GARD:0022531,GARD:0006589,,Rare genetic disease +GARD:0009929,GARD:0022536,GARD:0006589,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009929,GARD:0022524,GARD:0006589,,Rare neurologic disease +GARD:0009931,GARD:0022531,GARD:0007837,,Rare genetic disease +GARD:0009931,GARD:0022508,GARD:0007837,,Rare inborn errors of metabolism +GARD:0009931,GARD:0022521,GARD:0020067,,Rare endocrine disease +GARD:0009931,GARD:0022513,GARD:0020067,,Rare developmental defect during embryogenesis +GARD:0009931,GARD:0022531,GARD:0020067,,Rare genetic disease +GARD:0009932,GARD:0022513,GARD:0020067,,Rare developmental defect during embryogenesis +GARD:0009932,GARD:0022531,GARD:0020067,,Rare genetic disease +GARD:0009932,GARD:0022531,GARD:0021313,,Rare genetic disease +GARD:0009932,GARD:0022508,GARD:0021313,,Rare inborn errors of metabolism +GARD:0009932,GARD:0022521,GARD:0020067,,Rare endocrine disease +GARD:0009933,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0009933,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0009934,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0009934,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0009935,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0009935,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0009936,GARD:0022513,GARD:0006317,GARD:0015542,Rare developmental defect during embryogenesis +GARD:0009936,GARD:0022531,GARD:0006317,GARD:0015542,Rare genetic disease +GARD:0009936,GARD:0022523,GARD:0021510,GARD:0015542,Rare immune disease +GARD:0009936,GARD:0022520,GARD:0019510,GARD:0015542,Rare ophthalmic disorder +GARD:0009936,GARD:0022526,GARD:0019388,GARD:0015542,Rare odontologic disease +GARD:0009936,GARD:0022510,GARD:0006317,GARD:0015542,Rare skin disease +GARD:0009936,GARD:0022536,GARD:0022063,GARD:0015542,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009936,GARD:0022531,GARD:0021510,GARD:0015542,Rare genetic disease +GARD:0009936,GARD:0022531,GARD:0019510,GARD:0015542,Rare genetic disease +GARD:0009937,GARD:0022520,GARD:0016859,,Rare ophthalmic disorder +GARD:0009937,GARD:0022531,GARD:0016859,,Rare genetic disease +GARD:0009940,GARD:0022510,GARD:0021113,,Rare skin disease +GARD:0009940,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009940,GARD:0022531,GARD:0021293,,Rare genetic disease +GARD:0009940,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009940,GARD:0022510,GARD:0021293,,Rare skin disease +GARD:0009940,GARD:0022531,GARD:0021113,,Rare genetic disease +GARD:0009941,GARD:0022524,GARD:0020360,GARD:0015088,Rare neurologic disease +GARD:0009941,GARD:0022524,GARD:0020360,GARD:0015317,Rare neurologic disease +GARD:0009941,GARD:0022531,GARD:0020360,GARD:0015317,Rare genetic disease +GARD:0009941,GARD:0022531,GARD:0020360,GARD:0015087,Rare genetic disease +GARD:0009941,GARD:0022524,GARD:0020360,GARD:0015087,Rare neurologic disease +GARD:0009941,GARD:0022531,GARD:0020360,GARD:0015088,Rare genetic disease +GARD:0009943,GARD:0022531,GARD:0008349,,Rare genetic disease +GARD:0009943,GARD:0022526,GARD:0008349,,Rare odontologic disease +GARD:0009944,GARD:0022526,GARD:0000645,,Rare odontologic disease +GARD:0009944,GARD:0022531,GARD:0000645,,Rare genetic disease +GARD:0009947,GARD:0022531,GARD:0020088,,Rare genetic disease +GARD:0009947,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009947,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009947,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009947,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0009947,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0009947,GARD:0022524,GARD:0020088,,Rare neurologic disease +GARD:0009947,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0009950,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0009950,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0009951,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0009951,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0009951,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0009951,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0009952,GARD:0022513,GARD:0016857,,Rare developmental defect during embryogenesis +GARD:0009952,GARD:0022520,GARD:0019525,,Rare ophthalmic disorder +GARD:0009952,GARD:0022531,GARD:0020308,,Rare genetic disease +GARD:0009952,GARD:0022531,GARD:0020298,,Rare genetic disease +GARD:0009953,GARD:0022524,GARD:0013156,,Rare neurologic disease +GARD:0009953,GARD:0022535,GARD:0013156,,Rare neoplastic disease +GARD:0009959,GARD:0022524,GARD:0019433,GARD:0015483,Rare neurologic disease +GARD:0009959,GARD:0022524,GARD:0020092,GARD:0015483,Rare neurologic disease +GARD:0009959,GARD:0022509,GARD:0019433,GARD:0015483,Rare infectious disease +GARD:0009963,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0009963,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0009964,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0009964,GARD:0022531,GARD:0020370,,Rare genetic disease +GARD:0009964,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0009964,GARD:0022524,GARD:0020370,,Rare neurologic disease +GARD:0009965,GARD:0022522,GARD:0020677,,Rare hematologic disease +GARD:0009965,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0009965,GARD:0022531,GARD:0021342,,Rare genetic disease +GARD:0009965,GARD:0022508,GARD:0021342,,Rare inborn errors of metabolism +GARD:0009965,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0009965,GARD:0022531,GARD:0020677,,Rare genetic disease +GARD:0009966,GARD:0022520,GARD:0006288,,Rare ophthalmic disorder +GARD:0009966,GARD:0022531,GARD:0006288,,Rare genetic disease +GARD:0009966,GARD:0022524,GARD:0006288,,Rare neurologic disease +GARD:0009966,GARD:0022513,GARD:0006288,,Rare developmental defect during embryogenesis +GARD:0009970,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0009970,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0009971,GARD:0022524,GARD:0019416,,Rare neurologic disease +GARD:0009971,GARD:0022531,GARD:0019416,,Rare genetic disease +GARD:0009975,GARD:0022531,GARD:0019253,,Rare genetic disease +GARD:0009975,GARD:0022524,GARD:0019253,,Rare neurologic disease +GARD:0009976,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0009976,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0009977,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0009977,GARD:0022524,GARD:0019412,,Rare neurologic disease +GARD:0009977,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009977,GARD:0022531,GARD:0019412,,Rare genetic disease +GARD:0009977,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009977,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009977,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0009980,GARD:0022531,GARD:0020665,,Rare genetic disease +GARD:0009980,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0009980,GARD:0022524,GARD:0019096,,Rare neurologic disease +GARD:0009980,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009980,GARD:0022524,GARD:0020665,,Rare neurologic disease +GARD:0009980,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0009981,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009981,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009981,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009981,GARD:0022524,GARD:0020665,,Rare neurologic disease +GARD:0009981,GARD:0022531,GARD:0020665,,Rare genetic disease +GARD:0009983,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0009983,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0009983,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0009984,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0009984,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009984,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009984,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0009984,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009987,GARD:0022536,GARD:0021406,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0009987,GARD:0022523,GARD:0021406,,Rare immune disease +GARD:0009987,GARD:0022531,GARD:0021406,,Rare genetic disease +GARD:0009989,GARD:0022520,GARD:0011893,,Rare ophthalmic disorder +GARD:0009989,GARD:0022510,GARD:0011893,,Rare skin disease +GARD:0009989,GARD:0022531,GARD:0011893,,Rare genetic disease +GARD:0009989,GARD:0022513,GARD:0011893,,Rare developmental defect during embryogenesis +GARD:0009989,GARD:0022511,GARD:0011893,,Rare bone disease +GARD:0009989,GARD:0022521,GARD:0011893,,Rare endocrine disease +GARD:0009991,GARD:0022531,GARD:0021337,GARD:0015947,Rare genetic disease +GARD:0009991,GARD:0022524,GARD:0019832,GARD:0015947,Rare neurologic disease +GARD:0009991,GARD:0022513,GARD:0019212,GARD:0015947,Rare developmental defect during embryogenesis +GARD:0009991,GARD:0022531,GARD:0022214,GARD:0015947,Rare genetic disease +GARD:0009991,GARD:0022531,GARD:0022441,GARD:0015947,Rare genetic disease +GARD:0009991,GARD:0022513,GARD:0019832,GARD:0015947,Rare developmental defect during embryogenesis +GARD:0009991,GARD:0022525,GARD:0022214,GARD:0015947,Rare systemic or rheumatologic disease +GARD:0009991,GARD:0022508,GARD:0021337,GARD:0015947,Rare inborn errors of metabolism +GARD:0009991,GARD:0022511,GARD:0019212,GARD:0015947,Rare bone disease +GARD:0009991,GARD:0022531,GARD:0019212,GARD:0015947,Rare genetic disease +GARD:0009991,GARD:0022513,GARD:0022214,GARD:0015947,Rare developmental defect during embryogenesis +GARD:0009991,GARD:0022510,GARD:0022214,GARD:0015947,Rare skin disease +GARD:0009991,GARD:0022531,GARD:0021609,GARD:0015947,Rare genetic disease +GARD:0009991,GARD:0022513,GARD:0021609,GARD:0015947,Rare developmental defect during embryogenesis +GARD:0009993,GARD:0022531,GARD:0019145,GARD:0012861,Rare genetic disease +GARD:0009993,GARD:0022528,GARD:0019145,GARD:0012861,Rare otorhinolaryngologic disease +GARD:0009993,GARD:0022531,GARD:0021845,GARD:0018010,Rare genetic disease +GARD:0009993,GARD:0022513,GARD:0019145,GARD:0018010,Rare developmental defect during embryogenesis +GARD:0009993,GARD:0022520,GARD:0021845,GARD:0018010,Rare ophthalmic disorder +GARD:0009993,GARD:0022528,GARD:0019145,GARD:0018010,Rare otorhinolaryngologic disease +GARD:0009993,GARD:0022520,GARD:0021845,GARD:0012861,Rare ophthalmic disorder +GARD:0009993,GARD:0022524,GARD:0020366,GARD:0018010,Rare neurologic disease +GARD:0009993,GARD:0022531,GARD:0020366,GARD:0018010,Rare genetic disease +GARD:0009993,GARD:0022531,GARD:0020366,GARD:0012861,Rare genetic disease +GARD:0009993,GARD:0022513,GARD:0019145,GARD:0012861,Rare developmental defect during embryogenesis +GARD:0009993,GARD:0022524,GARD:0020366,GARD:0012861,Rare neurologic disease +GARD:0009993,GARD:0022531,GARD:0021845,GARD:0012861,Rare genetic disease +GARD:0009993,GARD:0022531,GARD:0019145,GARD:0018010,Rare genetic disease +GARD:0009994,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0009994,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0009994,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0009994,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0009994,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0009994,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0009995,GARD:0022531,GARD:0019253,,Rare genetic disease +GARD:0009995,GARD:0022524,GARD:0019253,,Rare neurologic disease +GARD:0009996,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0009996,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0009997,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0009997,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0009998,GARD:0022524,GARD:0020555,,Rare neurologic disease +GARD:0009998,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0009998,GARD:0022524,GARD:0020556,,Rare neurologic disease +GARD:0009998,GARD:0022508,GARD:0020759,,Rare inborn errors of metabolism +GARD:0009998,GARD:0022531,GARD:0020759,,Rare genetic disease +GARD:0009998,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0009998,GARD:0022531,GARD:0020555,,Rare genetic disease +GARD:0009998,GARD:0022531,GARD:0020556,,Rare genetic disease +GARD:0009999,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0009999,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0009999,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0009999,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010000,GARD:0022524,GARD:0010711,,Rare neurologic disease +GARD:0010000,GARD:0022524,GARD:0019414,,Rare neurologic disease +GARD:0010000,GARD:0022531,GARD:0019414,,Rare genetic disease +GARD:0010000,GARD:0022531,GARD:0010711,,Rare genetic disease +GARD:0010001,GARD:0022531,GARD:0019841,,Rare genetic disease +GARD:0010001,GARD:0022516,GARD:0019841,,Rare gastroenterologic disease +GARD:0010001,GARD:0022536,GARD:0019841,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010005,GARD:0022515,GARD:0019785,GARD:0002610,Rare cardiac disease +GARD:0010005,GARD:0022515,GARD:0019785,GARD:0004879,Rare cardiac disease +GARD:0010005,GARD:0022531,GARD:0019785,GARD:0001093,Rare genetic disease +GARD:0010005,GARD:0022531,GARD:0019785,GARD:0004879,Rare genetic disease +GARD:0010005,GARD:0022515,GARD:0019785,GARD:0001093,Rare cardiac disease +GARD:0010005,GARD:0022531,GARD:0019785,GARD:0002610,Rare genetic disease +GARD:0010007,GARD:0022523,GARD:0001033,,Rare immune disease +GARD:0010007,GARD:0022531,GARD:0001033,,Rare genetic disease +GARD:0010009,GARD:0022524,GARD:0007326,,Rare neurologic disease +GARD:0010009,GARD:0022524,GARD:0019818,,Rare neurologic disease +GARD:0010009,GARD:0022524,GARD:0021276,,Rare neurologic disease +GARD:0010009,GARD:0022520,GARD:0022115,,Rare ophthalmic disorder +GARD:0010010,GARD:0022513,GARD:0002150,,Rare developmental defect during embryogenesis +GARD:0010010,GARD:0022510,GARD:0002150,,Rare skin disease +GARD:0010010,GARD:0022531,GARD:0002150,,Rare genetic disease +GARD:0010011,GARD:0022523,GARD:0020596,,Rare immune disease +GARD:0010011,GARD:0022510,GARD:0019019,,Rare skin disease +GARD:0010011,GARD:0022531,GARD:0020596,,Rare genetic disease +GARD:0010011,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010011,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010011,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010011,GARD:0022531,GARD:0020278,,Rare genetic disease +GARD:0010012,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0010012,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0010012,GARD:0022531,GARD:0019185,,Rare genetic disease +GARD:0010012,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0010014,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0010018,GARD:0022531,GARD:0019520,GARD:0018216,Rare genetic disease +GARD:0010018,GARD:0022531,GARD:0019520,GARD:0018222,Rare genetic disease +GARD:0010018,GARD:0022520,GARD:0019520,GARD:0018219,Rare ophthalmic disorder +GARD:0010018,GARD:0022520,GARD:0019520,GARD:0018222,Rare ophthalmic disorder +GARD:0010018,GARD:0022531,GARD:0019520,GARD:0018223,Rare genetic disease +GARD:0010018,GARD:0022531,GARD:0019520,GARD:0018220,Rare genetic disease +GARD:0010018,GARD:0022520,GARD:0019520,GARD:0018216,Rare ophthalmic disorder +GARD:0010018,GARD:0022520,GARD:0019520,GARD:0018223,Rare ophthalmic disorder +GARD:0010018,GARD:0022520,GARD:0019520,GARD:0018217,Rare ophthalmic disorder +GARD:0010018,GARD:0022531,GARD:0019520,GARD:0018217,Rare genetic disease +GARD:0010018,GARD:0022520,GARD:0019520,GARD:0018218,Rare ophthalmic disorder +GARD:0010018,GARD:0022531,GARD:0019520,GARD:0018218,Rare genetic disease +GARD:0010018,GARD:0022531,GARD:0019520,GARD:0018221,Rare genetic disease +GARD:0010018,GARD:0022520,GARD:0019520,GARD:0018221,Rare ophthalmic disorder +GARD:0010018,GARD:0022520,GARD:0019520,GARD:0018220,Rare ophthalmic disorder +GARD:0010018,GARD:0022531,GARD:0019520,GARD:0018219,Rare genetic disease +GARD:0010023,GARD:0022526,GARD:0001029,,Rare odontologic disease +GARD:0010023,GARD:0022511,GARD:0001029,,Rare bone disease +GARD:0010023,GARD:0022531,GARD:0001029,,Rare genetic disease +GARD:0010023,GARD:0022513,GARD:0001029,,Rare developmental defect during embryogenesis +GARD:0010024,GARD:0022524,GARD:0006466,,Rare neurologic disease +GARD:0010024,GARD:0022513,GARD:0006466,,Rare developmental defect during embryogenesis +GARD:0010024,GARD:0022531,GARD:0006466,,Rare genetic disease +GARD:0010025,GARD:0022531,GARD:0022166,,Rare genetic disease +GARD:0010025,GARD:0022531,GARD:0020298,,Rare genetic disease +GARD:0010025,GARD:0022520,GARD:0022088,GARD:0016484,Rare ophthalmic disorder +GARD:0010025,GARD:0022513,GARD:0016857,GARD:0016484,Rare developmental defect during embryogenesis +GARD:0010025,GARD:0022513,GARD:0016857,GARD:0022084,Rare developmental defect during embryogenesis +GARD:0010025,GARD:0022520,GARD:0022088,GARD:0022084,Rare ophthalmic disorder +GARD:0010027,GARD:0022521,GARD:0019411,GARD:0001071,Rare endocrine disease +GARD:0010027,GARD:0022531,GARD:0021479,GARD:0010090,Rare genetic disease +GARD:0010027,GARD:0022514,GARD:0021479,GARD:0010090,Rare gynecologic or obstetric disease +GARD:0010027,GARD:0022531,GARD:0019196,GARD:0001071,Rare genetic disease +GARD:0010027,GARD:0022531,GARD:0019411,GARD:0010090,Rare genetic disease +GARD:0010027,GARD:0022513,GARD:0019196,GARD:0010090,Rare developmental defect during embryogenesis +GARD:0010027,GARD:0022524,GARD:0019832,GARD:0010090,Rare neurologic disease +GARD:0010027,GARD:0022532,GARD:0019411,GARD:0001071,Rare urogenital disease +GARD:0010027,GARD:0022531,GARD:0019411,GARD:0001071,Rare genetic disease +GARD:0010027,GARD:0022531,GARD:0021479,GARD:0001071,Rare genetic disease +GARD:0010027,GARD:0022524,GARD:0019832,GARD:0001071,Rare neurologic disease +GARD:0010027,GARD:0022513,GARD:0019411,GARD:0010090,Rare developmental defect during embryogenesis +GARD:0010027,GARD:0022511,GARD:0019196,GARD:0010090,Rare bone disease +GARD:0010027,GARD:0022513,GARD:0019411,GARD:0001071,Rare developmental defect during embryogenesis +GARD:0010027,GARD:0022531,GARD:0022441,GARD:0010090,Rare genetic disease +GARD:0010027,GARD:0022532,GARD:0019411,GARD:0010090,Rare urogenital disease +GARD:0010027,GARD:0022521,GARD:0019411,GARD:0010090,Rare endocrine disease +GARD:0010027,GARD:0022513,GARD:0019832,GARD:0010090,Rare developmental defect during embryogenesis +GARD:0010027,GARD:0022531,GARD:0022441,GARD:0001071,Rare genetic disease +GARD:0010027,GARD:0022531,GARD:0019196,GARD:0010090,Rare genetic disease +GARD:0010027,GARD:0022511,GARD:0019196,GARD:0001071,Rare bone disease +GARD:0010027,GARD:0022513,GARD:0019832,GARD:0001071,Rare developmental defect during embryogenesis +GARD:0010027,GARD:0022513,GARD:0019196,GARD:0001071,Rare developmental defect during embryogenesis +GARD:0010027,GARD:0022514,GARD:0021479,GARD:0001071,Rare gynecologic or obstetric disease +GARD:0010028,GARD:0022531,GARD:0012185,,Rare genetic disease +GARD:0010028,GARD:0022536,GARD:0012185,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010028,GARD:0022506,GARD:0012185,,Rare hepatic disease +GARD:0010028,GARD:0022508,GARD:0012185,,Rare inborn errors of metabolism +GARD:0010029,GARD:0022508,GARD:0012185,,Rare inborn errors of metabolism +GARD:0010029,GARD:0022536,GARD:0012185,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010029,GARD:0022506,GARD:0012185,,Rare hepatic disease +GARD:0010029,GARD:0022531,GARD:0012185,,Rare genetic disease +GARD:0010033,GARD:0022531,GARD:0017161,,Rare genetic disease +GARD:0010033,GARD:0022524,GARD:0017161,,Rare neurologic disease +GARD:0010034,GARD:0022524,GARD:0010711,,Rare neurologic disease +GARD:0010034,GARD:0022531,GARD:0022152,,Rare genetic disease +GARD:0010034,GARD:0022520,GARD:0022119,,Rare ophthalmic disorder +GARD:0010034,GARD:0022531,GARD:0010711,,Rare genetic disease +GARD:0010037,GARD:0022531,GARD:0007140,GARD:0022207,Rare genetic disease +GARD:0010037,GARD:0022524,GARD:0007140,GARD:0022208,Rare neurologic disease +GARD:0010037,GARD:0022531,GARD:0020684,GARD:0022207,Rare genetic disease +GARD:0010037,GARD:0022531,GARD:0020684,GARD:0022208,Rare genetic disease +GARD:0010037,GARD:0022531,GARD:0007140,GARD:0022208,Rare genetic disease +GARD:0010037,GARD:0022524,GARD:0007140,GARD:0022207,Rare neurologic disease +GARD:0010039,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0010039,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0010039,GARD:0022531,GARD:0021154,,Rare genetic disease +GARD:0010039,GARD:0022508,GARD:0021154,,Rare inborn errors of metabolism +GARD:0010041,GARD:0022528,GARD:0020000,GARD:0016117,Rare otorhinolaryngologic disease +GARD:0010041,GARD:0022513,GARD:0019833,GARD:0016117,Rare developmental defect during embryogenesis +GARD:0010041,GARD:0022531,GARD:0021507,GARD:0016117,Rare genetic disease +GARD:0010041,GARD:0022531,GARD:0021810,GARD:0016117,Rare genetic disease +GARD:0010041,GARD:0022513,GARD:0019145,GARD:0016117,Rare developmental defect during embryogenesis +GARD:0010041,GARD:0022528,GARD:0019145,GARD:0016117,Rare otorhinolaryngologic disease +GARD:0010041,GARD:0022531,GARD:0019145,GARD:0016117,Rare genetic disease +GARD:0010041,GARD:0022513,GARD:0020000,GARD:0016117,Rare developmental defect during embryogenesis +GARD:0010043,GARD:0022513,GARD:0005435,,Rare developmental defect during embryogenesis +GARD:0010043,GARD:0022528,GARD:0005435,,Rare otorhinolaryngologic disease +GARD:0010043,GARD:0022531,GARD:0005435,,Rare genetic disease +GARD:0010043,GARD:0022520,GARD:0005435,,Rare ophthalmic disorder +GARD:0010045,GARD:0022536,GARD:0021996,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010045,GARD:0022506,GARD:0021996,,Rare hepatic disease +GARD:0010045,GARD:0022531,GARD:0021996,,Rare genetic disease +GARD:0010045,GARD:0022508,GARD:0021996,,Rare inborn errors of metabolism +GARD:0010046,GARD:0022506,GARD:0021996,GARD:0015787,Rare hepatic disease +GARD:0010046,GARD:0022531,GARD:0012476,GARD:0015787,Rare genetic disease +GARD:0010046,GARD:0022508,GARD:0012476,GARD:0015787,Rare inborn errors of metabolism +GARD:0010046,GARD:0022536,GARD:0021996,GARD:0015787,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010046,GARD:0022524,GARD:0020382,GARD:0015787,Rare neurologic disease +GARD:0010046,GARD:0022508,GARD:0021996,GARD:0015787,Rare inborn errors of metabolism +GARD:0010046,GARD:0022531,GARD:0021996,GARD:0015787,Rare genetic disease +GARD:0010046,GARD:0022531,GARD:0020382,GARD:0015787,Rare genetic disease +GARD:0010046,GARD:0022536,GARD:0012476,GARD:0015787,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010047,GARD:0022508,GARD:0018970,GARD:0017331,Rare inborn errors of metabolism +GARD:0010047,GARD:0022531,GARD:0018970,GARD:0017331,Rare genetic disease +GARD:0010047,GARD:0022531,GARD:0019459,GARD:0017331,Rare genetic disease +GARD:0010047,GARD:0022522,GARD:0019459,GARD:0017330,Rare hematologic disease +GARD:0010047,GARD:0022508,GARD:0018970,GARD:0017330,Rare inborn errors of metabolism +GARD:0010047,GARD:0022522,GARD:0019459,GARD:0017331,Rare hematologic disease +GARD:0010047,GARD:0022531,GARD:0019459,GARD:0017330,Rare genetic disease +GARD:0010047,GARD:0022531,GARD:0018970,GARD:0017330,Rare genetic disease +GARD:0010048,GARD:0022510,GARD:0019000,GARD:0016837,Rare skin disease +GARD:0010048,GARD:0022531,GARD:0019904,GARD:0000710,Rare genetic disease +GARD:0010048,GARD:0022510,GARD:0019000,GARD:0000710,Rare skin disease +GARD:0010048,GARD:0022513,GARD:0019904,GARD:0000710,Rare developmental defect during embryogenesis +GARD:0010048,GARD:0022513,GARD:0019904,GARD:0016837,Rare developmental defect during embryogenesis +GARD:0010048,GARD:0022531,GARD:0019000,GARD:0016837,Rare genetic disease +GARD:0010048,GARD:0022531,GARD:0019000,GARD:0000710,Rare genetic disease +GARD:0010048,GARD:0022531,GARD:0019904,GARD:0016837,Rare genetic disease +GARD:0010049,GARD:0022520,GARD:0022096,GARD:0015615,Rare ophthalmic disorder +GARD:0010049,GARD:0022531,GARD:0022096,GARD:0015615,Rare genetic disease +GARD:0010049,GARD:0022531,GARD:0022096,GARD:0015623,Rare genetic disease +GARD:0010049,GARD:0022520,GARD:0022097,GARD:0015615,Rare ophthalmic disorder +GARD:0010049,GARD:0022520,GARD:0022097,GARD:0015623,Rare ophthalmic disorder +GARD:0010049,GARD:0022531,GARD:0022097,GARD:0015615,Rare genetic disease +GARD:0010049,GARD:0022520,GARD:0022096,GARD:0015623,Rare ophthalmic disorder +GARD:0010049,GARD:0022531,GARD:0022097,GARD:0015623,Rare genetic disease +GARD:0010050,GARD:0022520,GARD:0022096,,Rare ophthalmic disorder +GARD:0010050,GARD:0022531,GARD:0022096,,Rare genetic disease +GARD:0010050,GARD:0022531,GARD:0022105,,Rare genetic disease +GARD:0010050,GARD:0022520,GARD:0022105,,Rare ophthalmic disorder +GARD:0010051,GARD:0022514,GARD:0020194,,Rare gynecologic or obstetric disease +GARD:0010051,GARD:0022511,GARD:0022030,,Rare bone disease +GARD:0010051,GARD:0022531,GARD:0022030,,Rare genetic disease +GARD:0010051,GARD:0022520,GARD:0019512,,Rare ophthalmic disorder +GARD:0010051,GARD:0022513,GARD:0019512,,Rare developmental defect during embryogenesis +GARD:0010051,GARD:0022510,GARD:0019512,,Rare skin disease +GARD:0010051,GARD:0022531,GARD:0019512,,Rare genetic disease +GARD:0010051,GARD:0022513,GARD:0022030,,Rare developmental defect during embryogenesis +GARD:0010053,GARD:0022513,GARD:0020972,,Rare developmental defect during embryogenesis +GARD:0010053,GARD:0022531,GARD:0020972,,Rare genetic disease +GARD:0010053,GARD:0022524,GARD:0020972,,Rare neurologic disease +GARD:0010054,GARD:0022511,GARD:0019212,,Rare bone disease +GARD:0010054,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0010054,GARD:0022513,GARD:0019212,,Rare developmental defect during embryogenesis +GARD:0010054,GARD:0022531,GARD:0019212,,Rare genetic disease +GARD:0010054,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0010056,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0010056,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0010056,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0010056,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0010056,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010056,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0010056,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0010056,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0010056,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010056,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010056,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0010056,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0010057,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0010057,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0010057,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0010061,GARD:0022513,GARD:0019204,,Rare developmental defect during embryogenesis +GARD:0010061,GARD:0022511,GARD:0019204,,Rare bone disease +GARD:0010061,GARD:0022531,GARD:0019204,,Rare genetic disease +GARD:0010066,GARD:0022511,GARD:0022021,,Rare bone disease +GARD:0010066,GARD:0022531,GARD:0022021,,Rare genetic disease +GARD:0010066,GARD:0022513,GARD:0022021,,Rare developmental defect during embryogenesis +GARD:0010070,GARD:0022535,GARD:0016527,,Rare neoplastic disease +GARD:0010070,GARD:0022524,GARD:0016527,,Rare neurologic disease +GARD:0010072,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0010072,GARD:0022511,GARD:0018892,,Rare bone disease +GARD:0010072,GARD:0022531,GARD:0020289,,Rare genetic disease +GARD:0010072,GARD:0022535,GARD:0018892,,Rare neoplastic disease +GARD:0010072,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0010072,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0010075,GARD:0022510,GARD:0001917,,Rare skin disease +GARD:0010081,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0010081,GARD:0022531,GARD:0022094,,Rare genetic disease +GARD:0010081,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0010081,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0010081,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0010081,GARD:0022520,GARD:0022094,,Rare ophthalmic disorder +GARD:0010081,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0010082,GARD:0022531,GARD:0004155,GARD:0004153,Rare genetic disease +GARD:0010082,GARD:0022513,GARD:0004155,GARD:0004153,Rare developmental defect during embryogenesis +GARD:0010082,GARD:0022536,GARD:0004155,GARD:0004153,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010082,GARD:0022511,GARD:0004155,GARD:0004153,Rare bone disease +GARD:0010083,GARD:0022506,GARD:0019788,,Rare hepatic disease +GARD:0010083,GARD:0022531,GARD:0020004,,Rare genetic disease +GARD:0010083,GARD:0022531,GARD:0021510,,Rare genetic disease +GARD:0010083,GARD:0022523,GARD:0021510,,Rare immune disease +GARD:0010084,GARD:0022507,GARD:0003342,,Rare maxillo-facial surgical disease +GARD:0010084,GARD:0022513,GARD:0003342,,Rare developmental defect during embryogenesis +GARD:0010088,GARD:0022531,GARD:0021172,,Rare genetic disease +GARD:0010088,GARD:0021079,GARD:0021459,,Rare systemic or rheumatological disease of childhood +GARD:0010088,GARD:0022531,GARD:0021161,,Rare genetic disease +GARD:0010088,GARD:0022531,GARD:0022488,,Rare genetic disease +GARD:0010088,GARD:0022522,GARD:0021172,,Rare hematologic disease +GARD:0010088,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0010088,GARD:0022513,GARD:0022020,,Rare developmental defect during embryogenesis +GARD:0010088,GARD:0022525,GARD:0021454,,Rare systemic or rheumatologic disease +GARD:0010088,GARD:0022531,GARD:0022020,,Rare genetic disease +GARD:0010088,GARD:0022511,GARD:0022020,,Rare bone disease +GARD:0010088,GARD:0022523,GARD:0021161,,Rare immune disease +GARD:0010089,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010089,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010089,GARD:0022507,GARD:0019895,,Rare maxillo-facial surgical disease +GARD:0010089,GARD:0022513,GARD:0019895,,Rare developmental defect during embryogenesis +GARD:0010089,GARD:0022531,GARD:0021545,,Rare genetic disease +GARD:0010089,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0010089,GARD:0022528,GARD:0019895,,Rare otorhinolaryngologic disease +GARD:0010089,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0010089,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010089,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0010090,GARD:0022531,GARD:0010027,,Rare genetic disease +GARD:0010090,GARD:0022524,GARD:0010027,,Rare neurologic disease +GARD:0010090,GARD:0022521,GARD:0010027,,Rare endocrine disease +GARD:0010090,GARD:0022514,GARD:0010027,,Rare gynecologic or obstetric disease +GARD:0010090,GARD:0022513,GARD:0010027,,Rare developmental defect during embryogenesis +GARD:0010090,GARD:0022511,GARD:0010027,,Rare bone disease +GARD:0010090,GARD:0022532,GARD:0010027,,Rare urogenital disease +GARD:0010091,GARD:0022520,GARD:0019527,GARD:0016208,Rare ophthalmic disorder +GARD:0010091,GARD:0022531,GARD:0019213,GARD:0015048,Rare genetic disease +GARD:0010091,GARD:0022513,GARD:0022021,GARD:0015048,Rare developmental defect during embryogenesis +GARD:0010091,GARD:0022513,GARD:0019832,GARD:0015048,Rare developmental defect during embryogenesis +GARD:0010091,GARD:0022531,GARD:0022170,GARD:0016208,Rare genetic disease +GARD:0010091,GARD:0022511,GARD:0022021,GARD:0016208,Rare bone disease +GARD:0010091,GARD:0022535,GARD:0020259,GARD:0016208,Rare neoplastic disease +GARD:0010091,GARD:0022520,GARD:0019527,GARD:0015048,Rare ophthalmic disorder +GARD:0010091,GARD:0022513,GARD:0019213,GARD:0015048,Rare developmental defect during embryogenesis +GARD:0010091,GARD:0022531,GARD:0022170,GARD:0015048,Rare genetic disease +GARD:0010091,GARD:0022513,GARD:0020825,GARD:0015048,Rare developmental defect during embryogenesis +GARD:0010091,GARD:0022531,GARD:0022441,GARD:0016208,Rare genetic disease +GARD:0010091,GARD:0022511,GARD:0022021,GARD:0015048,Rare bone disease +GARD:0010091,GARD:0022513,GARD:0022021,GARD:0016208,Rare developmental defect during embryogenesis +GARD:0010091,GARD:0022524,GARD:0019832,GARD:0015048,Rare neurologic disease +GARD:0010091,GARD:0022531,GARD:0022441,GARD:0015048,Rare genetic disease +GARD:0010091,GARD:0022513,GARD:0019213,GARD:0016208,Rare developmental defect during embryogenesis +GARD:0010091,GARD:0022531,GARD:0019213,GARD:0016208,Rare genetic disease +GARD:0010091,GARD:0022524,GARD:0019832,GARD:0016208,Rare neurologic disease +GARD:0010091,GARD:0022531,GARD:0022021,GARD:0016208,Rare genetic disease +GARD:0010091,GARD:0022531,GARD:0022021,GARD:0015048,Rare genetic disease +GARD:0010091,GARD:0022535,GARD:0020259,GARD:0015048,Rare neoplastic disease +GARD:0010091,GARD:0022531,GARD:0020259,GARD:0016208,Rare genetic disease +GARD:0010091,GARD:0022531,GARD:0020259,GARD:0015048,Rare genetic disease +GARD:0010091,GARD:0022513,GARD:0020825,GARD:0016208,Rare developmental defect during embryogenesis +GARD:0010091,GARD:0022513,GARD:0019832,GARD:0016208,Rare developmental defect during embryogenesis +GARD:0010091,GARD:0022531,GARD:0020825,GARD:0016208,Rare genetic disease +GARD:0010091,GARD:0022531,GARD:0020825,GARD:0015048,Rare genetic disease +GARD:0010092,GARD:0022508,GARD:0020540,GARD:0015647,Rare inborn errors of metabolism +GARD:0010092,GARD:0022536,GARD:0020540,GARD:0015647,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010092,GARD:0022531,GARD:0020540,GARD:0015647,Rare genetic disease +GARD:0010092,GARD:0022506,GARD:0020540,GARD:0015647,Rare hepatic disease +GARD:0010093,GARD:0022531,GARD:0020540,,Rare genetic disease +GARD:0010093,GARD:0022508,GARD:0020540,,Rare inborn errors of metabolism +GARD:0010093,GARD:0022536,GARD:0020540,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010093,GARD:0022506,GARD:0020540,,Rare hepatic disease +GARD:0010094,GARD:0022531,GARD:0020540,,Rare genetic disease +GARD:0010094,GARD:0022508,GARD:0020540,,Rare inborn errors of metabolism +GARD:0010094,GARD:0022506,GARD:0020540,,Rare hepatic disease +GARD:0010094,GARD:0022536,GARD:0020540,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010095,GARD:0022531,GARD:0010768,,Rare genetic disease +GARD:0010095,GARD:0022524,GARD:0010768,,Rare neurologic disease +GARD:0010096,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0010096,GARD:0022512,GARD:0021420,,Rare renal disease +GARD:0010096,GARD:0022531,GARD:0022360,,Rare genetic disease +GARD:0010096,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0010096,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0010096,GARD:0022535,GARD:0022360,,Rare neoplastic disease +GARD:0010096,GARD:0022531,GARD:0021420,,Rare genetic disease +GARD:0010096,GARD:0022535,GARD:0021420,,Rare neoplastic disease +GARD:0010097,GARD:0022512,GARD:0002432,,Rare renal disease +GARD:0010097,GARD:0022531,GARD:0002432,,Rare genetic disease +GARD:0010097,GARD:0022536,GARD:0002432,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010097,GARD:0022528,GARD:0002432,,Rare otorhinolaryngologic disease +GARD:0010097,GARD:0022513,GARD:0002432,,Rare developmental defect during embryogenesis +GARD:0010097,GARD:0022520,GARD:0002432,,Rare ophthalmic disorder +GARD:0010099,GARD:0022531,GARD:0018970,,Rare genetic disease +GARD:0010099,GARD:0022508,GARD:0018970,,Rare inborn errors of metabolism +GARD:0010101,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0010101,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0010101,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0010103,GARD:0022510,GARD:0020577,,Rare skin disease +GARD:0010104,GARD:0022536,GARD:0009643,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010104,GARD:0022520,GARD:0009643,,Rare ophthalmic disorder +GARD:0010104,GARD:0022512,GARD:0009643,,Rare renal disease +GARD:0010104,GARD:0022513,GARD:0009643,,Rare developmental defect during embryogenesis +GARD:0010104,GARD:0022510,GARD:0009643,,Rare skin disease +GARD:0010104,GARD:0022527,GARD:0009643,,Rare circulatory system disease +GARD:0010104,GARD:0022531,GARD:0009643,,Rare genetic disease +GARD:0010104,GARD:0022524,GARD:0009643,,Rare neurologic disease +GARD:0010104,GARD:0022515,GARD:0009643,,Rare cardiac disease +GARD:0010106,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010106,GARD:0022523,GARD:0021514,,Rare immune disease +GARD:0010106,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0010106,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0010106,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0010106,GARD:0022531,GARD:0021514,,Rare genetic disease +GARD:0010108,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0010108,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0010108,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0010108,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0010109,GARD:0022534,GARD:0019864,GARD:0015259,Rare abdominal surgical disease +GARD:0010109,GARD:0022513,GARD:0019898,GARD:0015271,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022513,GARD:0019898,GARD:0015837,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022520,GARD:0019507,GARD:0015499,Rare ophthalmic disorder +GARD:0010109,GARD:0022531,GARD:0019898,GARD:0015271,Rare genetic disease +GARD:0010109,GARD:0022528,GARD:0019898,GARD:0015271,Rare otorhinolaryngologic disease +GARD:0010109,GARD:0022518,GARD:0020212,GARD:0015499,Rare surgical thoracic disease +GARD:0010109,GARD:0022524,GARD:0019832,GARD:0015837,Rare neurologic disease +GARD:0010109,GARD:0022531,GARD:0021727,GARD:0015259,Rare genetic disease +GARD:0010109,GARD:0022518,GARD:0020212,GARD:0015837,Rare surgical thoracic disease +GARD:0010109,GARD:0022507,GARD:0019898,GARD:0015271,Rare maxillo-facial surgical disease +GARD:0010109,GARD:0022513,GARD:0019507,GARD:0015259,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022524,GARD:0019832,GARD:0015259,Rare neurologic disease +GARD:0010109,GARD:0022513,GARD:0019902,GARD:0015271,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022513,GARD:0019832,GARD:0015837,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022524,GARD:0019832,GARD:0015499,Rare neurologic disease +GARD:0010109,GARD:0022511,GARD:0021186,GARD:0015271,Rare bone disease +GARD:0010109,GARD:0022513,GARD:0019507,GARD:0015499,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022531,GARD:0022441,GARD:0015271,Rare genetic disease +GARD:0010109,GARD:0022507,GARD:0019898,GARD:0015499,Rare maxillo-facial surgical disease +GARD:0010109,GARD:0022511,GARD:0021186,GARD:0015499,Rare bone disease +GARD:0010109,GARD:0022534,GARD:0019864,GARD:0015271,Rare abdominal surgical disease +GARD:0010109,GARD:0022513,GARD:0019864,GARD:0015837,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022531,GARD:0019507,GARD:0015259,Rare genetic disease +GARD:0010109,GARD:0022513,GARD:0019902,GARD:0015837,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022513,GARD:0019898,GARD:0015259,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022531,GARD:0019898,GARD:0015259,Rare genetic disease +GARD:0010109,GARD:0022513,GARD:0019864,GARD:0015271,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022513,GARD:0019507,GARD:0015271,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022528,GARD:0019898,GARD:0015259,Rare otorhinolaryngologic disease +GARD:0010109,GARD:0022531,GARD:0020299,GARD:0015499,Rare genetic disease +GARD:0010109,GARD:0022513,GARD:0019898,GARD:0015499,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022518,GARD:0020212,GARD:0015259,Rare surgical thoracic disease +GARD:0010109,GARD:0022531,GARD:0019898,GARD:0015837,Rare genetic disease +GARD:0010109,GARD:0022513,GARD:0019902,GARD:0015259,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022531,GARD:0022441,GARD:0015259,Rare genetic disease +GARD:0010109,GARD:0022513,GARD:0019832,GARD:0015259,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022513,GARD:0019864,GARD:0015259,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022511,GARD:0021186,GARD:0015837,Rare bone disease +GARD:0010109,GARD:0022513,GARD:0021186,GARD:0015259,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022531,GARD:0020299,GARD:0015271,Rare genetic disease +GARD:0010109,GARD:0022531,GARD:0021727,GARD:0015499,Rare genetic disease +GARD:0010109,GARD:0022531,GARD:0019898,GARD:0015499,Rare genetic disease +GARD:0010109,GARD:0022513,GARD:0019832,GARD:0015499,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022513,GARD:0019832,GARD:0015271,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022513,GARD:0019864,GARD:0015499,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022513,GARD:0021186,GARD:0015499,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022520,GARD:0019507,GARD:0015837,Rare ophthalmic disorder +GARD:0010109,GARD:0022531,GARD:0022441,GARD:0015837,Rare genetic disease +GARD:0010109,GARD:0022507,GARD:0019898,GARD:0015837,Rare maxillo-facial surgical disease +GARD:0010109,GARD:0022518,GARD:0020212,GARD:0015271,Rare surgical thoracic disease +GARD:0010109,GARD:0022531,GARD:0020299,GARD:0015837,Rare genetic disease +GARD:0010109,GARD:0022534,GARD:0019864,GARD:0015499,Rare abdominal surgical disease +GARD:0010109,GARD:0022513,GARD:0021186,GARD:0015837,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022513,GARD:0021186,GARD:0015271,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022531,GARD:0021727,GARD:0015837,Rare genetic disease +GARD:0010109,GARD:0022531,GARD:0021727,GARD:0015271,Rare genetic disease +GARD:0010109,GARD:0022534,GARD:0019864,GARD:0015837,Rare abdominal surgical disease +GARD:0010109,GARD:0022511,GARD:0021186,GARD:0015259,Rare bone disease +GARD:0010109,GARD:0022528,GARD:0019898,GARD:0015499,Rare otorhinolaryngologic disease +GARD:0010109,GARD:0022528,GARD:0019898,GARD:0015837,Rare otorhinolaryngologic disease +GARD:0010109,GARD:0022513,GARD:0019902,GARD:0015499,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022513,GARD:0019507,GARD:0015837,Rare developmental defect during embryogenesis +GARD:0010109,GARD:0022531,GARD:0019507,GARD:0015271,Rare genetic disease +GARD:0010109,GARD:0022520,GARD:0019507,GARD:0015259,Rare ophthalmic disorder +GARD:0010109,GARD:0022531,GARD:0020299,GARD:0015259,Rare genetic disease +GARD:0010109,GARD:0022520,GARD:0019507,GARD:0015271,Rare ophthalmic disorder +GARD:0010109,GARD:0022507,GARD:0019898,GARD:0015259,Rare maxillo-facial surgical disease +GARD:0010109,GARD:0022524,GARD:0019832,GARD:0015271,Rare neurologic disease +GARD:0010109,GARD:0022531,GARD:0022441,GARD:0015499,Rare genetic disease +GARD:0010109,GARD:0022531,GARD:0019507,GARD:0015837,Rare genetic disease +GARD:0010109,GARD:0022531,GARD:0019507,GARD:0015499,Rare genetic disease +GARD:0010111,GARD:0022531,GARD:0012822,,Rare genetic disease +GARD:0010111,GARD:0022531,GARD:0012821,,Rare genetic disease +GARD:0010111,GARD:0022531,GARD:0007171,,Rare genetic disease +GARD:0010111,GARD:0022524,GARD:0007171,,Rare neurologic disease +GARD:0010111,GARD:0022524,GARD:0012823,,Rare neurologic disease +GARD:0010111,GARD:0022524,GARD:0012821,,Rare neurologic disease +GARD:0010111,GARD:0022531,GARD:0012823,,Rare genetic disease +GARD:0010111,GARD:0022524,GARD:0012822,,Rare neurologic disease +GARD:0010116,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0010116,GARD:0022531,GARD:0021111,,Rare genetic disease +GARD:0010116,GARD:0022531,GARD:0021987,,Rare genetic disease +GARD:0010116,GARD:0022510,GARD:0021111,,Rare skin disease +GARD:0010118,GARD:0022531,GARD:0022105,GARD:0015660,Rare genetic disease +GARD:0010118,GARD:0022520,GARD:0022105,GARD:0015660,Rare ophthalmic disorder +GARD:0010119,GARD:0022520,GARD:0011897,,Rare ophthalmic disorder +GARD:0010119,GARD:0022531,GARD:0011897,,Rare genetic disease +GARD:0010120,GARD:0022520,GARD:0010909,,Rare ophthalmic disorder +GARD:0010120,GARD:0022531,GARD:0010909,,Rare genetic disease +GARD:0010121,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0010121,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010121,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0010121,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0010121,GARD:0022531,GARD:0019987,,Rare genetic disease +GARD:0010121,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0010121,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010121,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0010123,GARD:0022531,GARD:0022096,,Rare genetic disease +GARD:0010123,GARD:0022520,GARD:0022096,,Rare ophthalmic disorder +GARD:0010126,GARD:0022511,GARD:0010891,,Rare bone disease +GARD:0010126,GARD:0022524,GARD:0010891,,Rare neurologic disease +GARD:0010126,GARD:0022520,GARD:0022115,,Rare ophthalmic disorder +GARD:0010126,GARD:0022508,GARD:0010891,,Rare inborn errors of metabolism +GARD:0010126,GARD:0022536,GARD:0010891,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010126,GARD:0022531,GARD:0022150,,Rare genetic disease +GARD:0010126,GARD:0022531,GARD:0010891,,Rare genetic disease +GARD:0010127,GARD:0022513,GARD:0003244,,Rare developmental defect during embryogenesis +GARD:0010127,GARD:0022532,GARD:0003244,,Rare urogenital disease +GARD:0010127,GARD:0022529,GARD:0003244,,Rare infertility +GARD:0010127,GARD:0022531,GARD:0003244,,Rare genetic disease +GARD:0010127,GARD:0022536,GARD:0003244,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010127,GARD:0022521,GARD:0003244,,Rare endocrine disease +GARD:0010128,GARD:0022521,GARD:0020135,,Rare endocrine disease +GARD:0010128,GARD:0022531,GARD:0021691,,Rare genetic disease +GARD:0010128,GARD:0022529,GARD:0020135,,Rare infertility +GARD:0010128,GARD:0022531,GARD:0020135,,Rare genetic disease +GARD:0010128,GARD:0022514,GARD:0020135,,Rare gynecologic or obstetric disease +GARD:0010129,GARD:0022531,GARD:0012280,,Rare genetic disease +GARD:0010129,GARD:0022521,GARD:0012280,,Rare endocrine disease +GARD:0010129,GARD:0022531,GARD:0019272,,Rare genetic disease +GARD:0010129,GARD:0022521,GARD:0019272,,Rare endocrine disease +GARD:0010130,GARD:0022513,GARD:0020841,,Rare developmental defect during embryogenesis +GARD:0010130,GARD:0022531,GARD:0022298,,Rare genetic disease +GARD:0010130,GARD:0022513,GARD:0022298,,Rare developmental defect during embryogenesis +GARD:0010130,GARD:0022510,GARD:0022298,,Rare skin disease +GARD:0010130,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010130,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010130,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010130,GARD:0022531,GARD:0020841,,Rare genetic disease +GARD:0010130,GARD:0022527,GARD:0022298,,Rare circulatory system disease +GARD:0010131,GARD:0022524,GARD:0019924,,Rare neurologic disease +GARD:0010131,GARD:0022531,GARD:0019924,,Rare genetic disease +GARD:0010132,GARD:0022524,GARD:0012440,,Rare neurologic disease +GARD:0010132,GARD:0022531,GARD:0012440,,Rare genetic disease +GARD:0010133,GARD:0022531,GARD:0019927,,Rare genetic disease +GARD:0010133,GARD:0022524,GARD:0019927,,Rare neurologic disease +GARD:0010138,GARD:0022531,GARD:0018749,,Rare genetic disease +GARD:0010138,GARD:0022524,GARD:0018749,,Rare neurologic disease +GARD:0010140,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0010140,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010140,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0010140,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0010140,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010140,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010142,GARD:0022520,GARD:0022094,GARD:0010152,Rare ophthalmic disorder +GARD:0010142,GARD:0022531,GARD:0001017,GARD:0010619,Rare genetic disease +GARD:0010142,GARD:0022513,GARD:0001017,GARD:0008701,Rare developmental defect during embryogenesis +GARD:0010142,GARD:0022520,GARD:0022094,GARD:0008701,Rare ophthalmic disorder +GARD:0010142,GARD:0022531,GARD:0022094,GARD:0010619,Rare genetic disease +GARD:0010142,GARD:0022511,GARD:0001017,GARD:0010619,Rare bone disease +GARD:0010142,GARD:0022531,GARD:0022094,GARD:0010152,Rare genetic disease +GARD:0010142,GARD:0022511,GARD:0001017,GARD:0008701,Rare bone disease +GARD:0010142,GARD:0022520,GARD:0022094,GARD:0010619,Rare ophthalmic disorder +GARD:0010142,GARD:0022531,GARD:0001017,GARD:0008701,Rare genetic disease +GARD:0010142,GARD:0022513,GARD:0001017,GARD:0010619,Rare developmental defect during embryogenesis +GARD:0010142,GARD:0022531,GARD:0001017,GARD:0010152,Rare genetic disease +GARD:0010142,GARD:0022531,GARD:0022094,GARD:0008701,Rare genetic disease +GARD:0010142,GARD:0022511,GARD:0001017,GARD:0010152,Rare bone disease +GARD:0010142,GARD:0022513,GARD:0001017,GARD:0010152,Rare developmental defect during embryogenesis +GARD:0010144,GARD:0022526,GARD:0006258,,Rare odontologic disease +GARD:0010144,GARD:0022531,GARD:0006258,,Rare genetic disease +GARD:0010145,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010145,GARD:0022513,GARD:0020870,,Rare developmental defect during embryogenesis +GARD:0010145,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010145,GARD:0022531,GARD:0020870,,Rare genetic disease +GARD:0010145,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010147,GARD:0022513,GARD:0019145,GARD:0015503,Rare developmental defect during embryogenesis +GARD:0010147,GARD:0022513,GARD:0019833,GARD:0015503,Rare developmental defect during embryogenesis +GARD:0010147,GARD:0022512,GARD:0019218,GARD:0015503,Rare renal disease +GARD:0010147,GARD:0022513,GARD:0019218,GARD:0015503,Rare developmental defect during embryogenesis +GARD:0010147,GARD:0022513,GARD:0019994,GARD:0015503,Rare developmental defect during embryogenesis +GARD:0010147,GARD:0022528,GARD:0019145,GARD:0015503,Rare otorhinolaryngologic disease +GARD:0010147,GARD:0022531,GARD:0019145,GARD:0015503,Rare genetic disease +GARD:0010147,GARD:0022528,GARD:0019998,GARD:0015503,Rare otorhinolaryngologic disease +GARD:0010147,GARD:0022531,GARD:0020301,GARD:0015503,Rare genetic disease +GARD:0010147,GARD:0022507,GARD:0019998,GARD:0015503,Rare maxillo-facial surgical disease +GARD:0010147,GARD:0022531,GARD:0019218,GARD:0015503,Rare genetic disease +GARD:0010147,GARD:0022531,GARD:0019998,GARD:0015503,Rare genetic disease +GARD:0010147,GARD:0022513,GARD:0019907,GARD:0015503,Rare developmental defect during embryogenesis +GARD:0010147,GARD:0022528,GARD:0019994,GARD:0015503,Rare otorhinolaryngologic disease +GARD:0010147,GARD:0022511,GARD:0019994,GARD:0015503,Rare bone disease +GARD:0010147,GARD:0022536,GARD:0019218,GARD:0015503,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010147,GARD:0022513,GARD:0019998,GARD:0015503,Rare developmental defect during embryogenesis +GARD:0010147,GARD:0022531,GARD:0019994,GARD:0015503,Rare genetic disease +GARD:0010147,GARD:0022507,GARD:0019994,GARD:0015503,Rare maxillo-facial surgical disease +GARD:0010147,GARD:0022531,GARD:0021507,GARD:0015503,Rare genetic disease +GARD:0010148,GARD:0022528,GARD:0019145,GARD:0015430,Rare otorhinolaryngologic disease +GARD:0010148,GARD:0022531,GARD:0019145,GARD:0015430,Rare genetic disease +GARD:0010148,GARD:0022513,GARD:0019145,GARD:0015430,Rare developmental defect during embryogenesis +GARD:0010148,GARD:0022531,GARD:0021507,GARD:0015430,Rare genetic disease +GARD:0010148,GARD:0022513,GARD:0019833,GARD:0015053,Rare developmental defect during embryogenesis +GARD:0010148,GARD:0022513,GARD:0019833,GARD:0015430,Rare developmental defect during embryogenesis +GARD:0010148,GARD:0022513,GARD:0019145,GARD:0015053,Rare developmental defect during embryogenesis +GARD:0010148,GARD:0022531,GARD:0019145,GARD:0015053,Rare genetic disease +GARD:0010148,GARD:0022531,GARD:0021507,GARD:0015053,Rare genetic disease +GARD:0010148,GARD:0022528,GARD:0019145,GARD:0015053,Rare otorhinolaryngologic disease +GARD:0010149,GARD:0022531,GARD:0019196,,Rare genetic disease +GARD:0010149,GARD:0022511,GARD:0019196,,Rare bone disease +GARD:0010149,GARD:0022513,GARD:0019196,,Rare developmental defect during embryogenesis +GARD:0010151,GARD:0022531,GARD:0000575,,Rare genetic disease +GARD:0010151,GARD:0022525,GARD:0000575,,Rare systemic or rheumatologic disease +GARD:0010151,GARD:0022523,GARD:0000575,,Rare immune disease +GARD:0010151,GARD:0022524,GARD:0000575,,Rare neurologic disease +GARD:0010151,GARD:0021079,GARD:0000575,,Rare systemic or rheumatological disease of childhood +GARD:0010152,GARD:0022513,GARD:0008695,,Rare developmental defect during embryogenesis +GARD:0010152,GARD:0022526,GARD:0008695,,Rare odontologic disease +GARD:0010152,GARD:0022531,GARD:0008695,,Rare genetic disease +GARD:0010152,GARD:0022520,GARD:0008695,,Rare ophthalmic disorder +GARD:0010152,GARD:0022513,GARD:0010142,,Rare developmental defect during embryogenesis +GARD:0010152,GARD:0022511,GARD:0010142,,Rare bone disease +GARD:0010152,GARD:0022520,GARD:0010142,,Rare ophthalmic disorder +GARD:0010152,GARD:0022511,GARD:0008695,,Rare bone disease +GARD:0010152,GARD:0022531,GARD:0010142,,Rare genetic disease +GARD:0010153,GARD:0022531,GARD:0021801,,Rare genetic disease +GARD:0010153,GARD:0022517,GARD:0021801,,Rare respiratory disease +GARD:0010156,GARD:0022517,GARD:0020923,,Rare respiratory disease +GARD:0010156,GARD:0022536,GARD:0020923,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010163,GARD:0022531,GARD:0019448,,Rare genetic disease +GARD:0010163,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0010163,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0010163,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0010163,GARD:0022510,GARD:0019448,,Rare skin disease +GARD:0010163,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0010163,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0010167,GARD:0022536,GARD:0009455,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010167,GARD:0022512,GARD:0009455,,Rare renal disease +GARD:0010167,GARD:0022520,GARD:0009455,,Rare ophthalmic disorder +GARD:0010167,GARD:0022524,GARD:0009455,,Rare neurologic disease +GARD:0010167,GARD:0022513,GARD:0009455,,Rare developmental defect during embryogenesis +GARD:0010167,GARD:0022531,GARD:0009455,,Rare genetic disease +GARD:0010168,GARD:0022531,GARD:0022441,GARD:0016195,Rare genetic disease +GARD:0010168,GARD:0022524,GARD:0019832,GARD:0015435,Rare neurologic disease +GARD:0010168,GARD:0022513,GARD:0020999,GARD:0016195,Rare developmental defect during embryogenesis +GARD:0010168,GARD:0022524,GARD:0019832,GARD:0015801,Rare neurologic disease +GARD:0010168,GARD:0022524,GARD:0019931,GARD:0015801,Rare neurologic disease +GARD:0010168,GARD:0022524,GARD:0019931,GARD:0015435,Rare neurologic disease +GARD:0010168,GARD:0022513,GARD:0019832,GARD:0015887,Rare developmental defect during embryogenesis +GARD:0010168,GARD:0022513,GARD:0020999,GARD:0015435,Rare developmental defect during embryogenesis +GARD:0010168,GARD:0022520,GARD:0022108,GARD:0015801,Rare ophthalmic disorder +GARD:0010168,GARD:0022524,GARD:0020999,GARD:0015435,Rare neurologic disease +GARD:0010168,GARD:0022531,GARD:0022441,GARD:0015435,Rare genetic disease +GARD:0010168,GARD:0022520,GARD:0022108,GARD:0015435,Rare ophthalmic disorder +GARD:0010168,GARD:0022524,GARD:0019931,GARD:0015806,Rare neurologic disease +GARD:0010168,GARD:0022520,GARD:0022108,GARD:0015887,Rare ophthalmic disorder +GARD:0010168,GARD:0022531,GARD:0021008,GARD:0015801,Rare genetic disease +GARD:0010168,GARD:0022524,GARD:0019832,GARD:0015806,Rare neurologic disease +GARD:0010168,GARD:0022531,GARD:0019987,GARD:0016195,Rare genetic disease +GARD:0010168,GARD:0022513,GARD:0020999,GARD:0015801,Rare developmental defect during embryogenesis +GARD:0010168,GARD:0022531,GARD:0019987,GARD:0015887,Rare genetic disease +GARD:0010168,GARD:0022531,GARD:0019987,GARD:0015801,Rare genetic disease +GARD:0010168,GARD:0022524,GARD:0020999,GARD:0015801,Rare neurologic disease +GARD:0010168,GARD:0022531,GARD:0022108,GARD:0015806,Rare genetic disease +GARD:0010168,GARD:0022531,GARD:0019931,GARD:0015435,Rare genetic disease +GARD:0010168,GARD:0022531,GARD:0019987,GARD:0015806,Rare genetic disease +GARD:0010168,GARD:0022513,GARD:0019832,GARD:0016195,Rare developmental defect during embryogenesis +GARD:0010168,GARD:0022524,GARD:0019832,GARD:0016195,Rare neurologic disease +GARD:0010168,GARD:0022520,GARD:0019931,GARD:0015806,Rare ophthalmic disorder +GARD:0010168,GARD:0022513,GARD:0019832,GARD:0015801,Rare developmental defect during embryogenesis +GARD:0010168,GARD:0022531,GARD:0021008,GARD:0016195,Rare genetic disease +GARD:0010168,GARD:0022531,GARD:0022108,GARD:0015801,Rare genetic disease +GARD:0010168,GARD:0022513,GARD:0019832,GARD:0015435,Rare developmental defect during embryogenesis +GARD:0010168,GARD:0022520,GARD:0019931,GARD:0015887,Rare ophthalmic disorder +GARD:0010168,GARD:0022531,GARD:0022441,GARD:0015801,Rare genetic disease +GARD:0010168,GARD:0022524,GARD:0020999,GARD:0016195,Rare neurologic disease +GARD:0010168,GARD:0022531,GARD:0022108,GARD:0015887,Rare genetic disease +GARD:0010168,GARD:0022520,GARD:0022108,GARD:0015806,Rare ophthalmic disorder +GARD:0010168,GARD:0022531,GARD:0021008,GARD:0015806,Rare genetic disease +GARD:0010168,GARD:0022531,GARD:0021008,GARD:0015435,Rare genetic disease +GARD:0010168,GARD:0022531,GARD:0021008,GARD:0015887,Rare genetic disease +GARD:0010168,GARD:0022531,GARD:0019931,GARD:0016195,Rare genetic disease +GARD:0010168,GARD:0022524,GARD:0020999,GARD:0015887,Rare neurologic disease +GARD:0010168,GARD:0022531,GARD:0019931,GARD:0015887,Rare genetic disease +GARD:0010168,GARD:0022513,GARD:0020999,GARD:0015806,Rare developmental defect during embryogenesis +GARD:0010168,GARD:0022520,GARD:0019931,GARD:0016195,Rare ophthalmic disorder +GARD:0010168,GARD:0022520,GARD:0022108,GARD:0016195,Rare ophthalmic disorder +GARD:0010168,GARD:0022524,GARD:0019832,GARD:0015887,Rare neurologic disease +GARD:0010168,GARD:0022524,GARD:0019931,GARD:0015887,Rare neurologic disease +GARD:0010168,GARD:0022531,GARD:0022108,GARD:0015435,Rare genetic disease +GARD:0010168,GARD:0022520,GARD:0019931,GARD:0015435,Rare ophthalmic disorder +GARD:0010168,GARD:0022531,GARD:0019931,GARD:0015801,Rare genetic disease +GARD:0010168,GARD:0022531,GARD:0022441,GARD:0015806,Rare genetic disease +GARD:0010168,GARD:0022513,GARD:0020999,GARD:0015887,Rare developmental defect during embryogenesis +GARD:0010168,GARD:0022524,GARD:0020999,GARD:0015806,Rare neurologic disease +GARD:0010168,GARD:0022513,GARD:0019832,GARD:0015806,Rare developmental defect during embryogenesis +GARD:0010168,GARD:0022531,GARD:0019931,GARD:0015806,Rare genetic disease +GARD:0010168,GARD:0022520,GARD:0019931,GARD:0015801,Rare ophthalmic disorder +GARD:0010168,GARD:0022531,GARD:0019987,GARD:0015435,Rare genetic disease +GARD:0010168,GARD:0022531,GARD:0022108,GARD:0016195,Rare genetic disease +GARD:0010168,GARD:0022531,GARD:0022441,GARD:0015887,Rare genetic disease +GARD:0010168,GARD:0022524,GARD:0019931,GARD:0016195,Rare neurologic disease +GARD:0010169,GARD:0022513,GARD:0020999,GARD:0015465,Rare developmental defect during embryogenesis +GARD:0010169,GARD:0022536,GARD:0022061,GARD:0015465,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010169,GARD:0022512,GARD:0019228,GARD:0015465,Rare renal disease +GARD:0010169,GARD:0022513,GARD:0020999,GARD:0015519,Rare developmental defect during embryogenesis +GARD:0010169,GARD:0022531,GARD:0022441,GARD:0015465,Rare genetic disease +GARD:0010169,GARD:0022524,GARD:0019832,GARD:0015801,Rare neurologic disease +GARD:0010169,GARD:0022531,GARD:0019992,GARD:0015465,Rare genetic disease +GARD:0010169,GARD:0022531,GARD:0021008,GARD:0015801,Rare genetic disease +GARD:0010169,GARD:0022531,GARD:0019228,GARD:0015519,Rare genetic disease +GARD:0010169,GARD:0022531,GARD:0022441,GARD:0015801,Rare genetic disease +GARD:0010169,GARD:0022531,GARD:0019931,GARD:0015519,Rare genetic disease +GARD:0010169,GARD:0022520,GARD:0019931,GARD:0015519,Rare ophthalmic disorder +GARD:0010169,GARD:0022531,GARD:0019931,GARD:0015801,Rare genetic disease +GARD:0010169,GARD:0022536,GARD:0022061,GARD:0015519,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010169,GARD:0022531,GARD:0019992,GARD:0015519,Rare genetic disease +GARD:0010169,GARD:0022531,GARD:0019228,GARD:0015465,Rare genetic disease +GARD:0010169,GARD:0022513,GARD:0019832,GARD:0015465,Rare developmental defect during embryogenesis +GARD:0010169,GARD:0022513,GARD:0019832,GARD:0015801,Rare developmental defect during embryogenesis +GARD:0010169,GARD:0022531,GARD:0022441,GARD:0015519,Rare genetic disease +GARD:0010169,GARD:0022524,GARD:0019832,GARD:0015519,Rare neurologic disease +GARD:0010169,GARD:0022531,GARD:0019228,GARD:0015801,Rare genetic disease +GARD:0010169,GARD:0022524,GARD:0020999,GARD:0015465,Rare neurologic disease +GARD:0010169,GARD:0022531,GARD:0021008,GARD:0015465,Rare genetic disease +GARD:0010169,GARD:0022531,GARD:0019992,GARD:0015801,Rare genetic disease +GARD:0010169,GARD:0022531,GARD:0019986,GARD:0015519,Rare genetic disease +GARD:0010169,GARD:0022520,GARD:0019931,GARD:0015465,Rare ophthalmic disorder +GARD:0010169,GARD:0022531,GARD:0019931,GARD:0015465,Rare genetic disease +GARD:0010169,GARD:0022512,GARD:0019228,GARD:0015519,Rare renal disease +GARD:0010169,GARD:0022524,GARD:0020999,GARD:0015519,Rare neurologic disease +GARD:0010169,GARD:0022524,GARD:0020999,GARD:0015801,Rare neurologic disease +GARD:0010169,GARD:0022524,GARD:0019931,GARD:0015519,Rare neurologic disease +GARD:0010169,GARD:0022513,GARD:0020999,GARD:0015801,Rare developmental defect during embryogenesis +GARD:0010169,GARD:0022531,GARD:0019986,GARD:0015801,Rare genetic disease +GARD:0010169,GARD:0022513,GARD:0019832,GARD:0015519,Rare developmental defect during embryogenesis +GARD:0010169,GARD:0022531,GARD:0021008,GARD:0015519,Rare genetic disease +GARD:0010169,GARD:0022524,GARD:0019931,GARD:0015801,Rare neurologic disease +GARD:0010169,GARD:0022512,GARD:0019228,GARD:0015801,Rare renal disease +GARD:0010169,GARD:0022524,GARD:0019931,GARD:0015465,Rare neurologic disease +GARD:0010169,GARD:0022531,GARD:0019986,GARD:0015465,Rare genetic disease +GARD:0010169,GARD:0022524,GARD:0019832,GARD:0015465,Rare neurologic disease +GARD:0010169,GARD:0022520,GARD:0019931,GARD:0015801,Rare ophthalmic disorder +GARD:0010169,GARD:0022536,GARD:0022061,GARD:0015801,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010173,GARD:0022526,GARD:0020055,,Rare odontologic disease +GARD:0010175,GARD:0022535,GARD:0018850,,Rare neoplastic disease +GARD:0010175,GARD:0022506,GARD:0018850,,Rare hepatic disease +GARD:0010175,GARD:0022536,GARD:0018850,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010177,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0010179,GARD:0022531,GARD:0020276,GARD:0010867,Rare genetic disease +GARD:0010179,GARD:0022510,GARD:0019014,GARD:0010867,Rare skin disease +GARD:0010179,GARD:0022510,GARD:0019014,GARD:0009707,Rare skin disease +GARD:0010179,GARD:0022535,GARD:0019014,GARD:0009707,Rare neoplastic disease +GARD:0010179,GARD:0022531,GARD:0020276,GARD:0009707,Rare genetic disease +GARD:0010179,GARD:0022535,GARD:0019014,GARD:0010867,Rare neoplastic disease +GARD:0010181,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0010184,GARD:0022531,GARD:0019456,,Rare genetic disease +GARD:0010184,GARD:0022522,GARD:0019456,,Rare hematologic disease +GARD:0010188,GARD:0022531,GARD:0015021,,Rare genetic disease +GARD:0010188,GARD:0022527,GARD:0015021,,Rare circulatory system disease +GARD:0010188,GARD:0022513,GARD:0015021,,Rare developmental defect during embryogenesis +GARD:0010188,GARD:0022510,GARD:0015021,,Rare skin disease +GARD:0010189,GARD:0022510,GARD:0015021,,Rare skin disease +GARD:0010189,GARD:0022527,GARD:0015021,,Rare circulatory system disease +GARD:0010189,GARD:0022513,GARD:0015021,,Rare developmental defect during embryogenesis +GARD:0010189,GARD:0022531,GARD:0015021,,Rare genetic disease +GARD:0010190,GARD:0022531,GARD:0016671,GARD:0017270,Rare genetic disease +GARD:0010190,GARD:0022513,GARD:0016671,GARD:0017270,Rare developmental defect during embryogenesis +GARD:0010190,GARD:0022524,GARD:0016671,GARD:0017270,Rare neurologic disease +GARD:0010190,GARD:0022524,GARD:0016671,GARD:0017271,Rare neurologic disease +GARD:0010190,GARD:0022513,GARD:0016671,GARD:0017271,Rare developmental defect during embryogenesis +GARD:0010190,GARD:0022531,GARD:0016671,GARD:0017271,Rare genetic disease +GARD:0010193,GARD:0022536,GARD:0020161,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010193,GARD:0022510,GARD:0020161,,Rare skin disease +GARD:0010193,GARD:0022535,GARD:0020161,,Rare neoplastic disease +GARD:0010193,GARD:0022522,GARD:0020161,,Rare hematologic disease +GARD:0010199,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0010199,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010199,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010199,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0010200,GARD:0022520,GARD:0016860,,Rare ophthalmic disorder +GARD:0010200,GARD:0022531,GARD:0016860,,Rare genetic disease +GARD:0010201,GARD:0022508,GARD:0009890,,Rare inborn errors of metabolism +GARD:0010201,GARD:0022520,GARD:0009890,,Rare ophthalmic disorder +GARD:0010201,GARD:0022531,GARD:0009890,,Rare genetic disease +GARD:0010202,GARD:0022531,GARD:0020822,,Rare genetic disease +GARD:0010202,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0010202,GARD:0022513,GARD:0020822,,Rare developmental defect during embryogenesis +GARD:0010202,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010202,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0010202,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010202,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0010202,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010203,GARD:0022520,GARD:0011972,,Rare ophthalmic disorder +GARD:0010203,GARD:0022508,GARD:0020760,,Rare inborn errors of metabolism +GARD:0010203,GARD:0022531,GARD:0020760,,Rare genetic disease +GARD:0010203,GARD:0022531,GARD:0011972,,Rare genetic disease +GARD:0010203,GARD:0022508,GARD:0011972,,Rare inborn errors of metabolism +GARD:0010204,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0010204,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0010204,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0010204,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0010204,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0010204,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0010204,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010204,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0010204,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0010204,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0010204,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0010205,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0010205,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0010205,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0010205,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0010205,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0010205,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0010205,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0010205,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0010205,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010205,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0010205,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0010206,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0010206,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0010206,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0010206,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0010206,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0010206,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0010206,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0010206,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0010206,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010206,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0010206,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0010207,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0010207,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0010207,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0010207,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0010207,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0010207,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0010207,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0010207,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0010207,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010207,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0010207,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0010208,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0010208,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0010208,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0010208,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0010208,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010208,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0010208,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0010208,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0010208,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0010208,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0010208,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0010209,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0010209,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0010209,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0010209,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0010209,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0010209,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0010209,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0010209,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0010209,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010209,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0010209,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0010210,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010210,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0010210,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0010210,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0010210,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0010210,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0010210,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0010210,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0010210,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0010210,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0010210,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0010211,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0010211,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010211,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0010211,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0010211,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0010211,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0010211,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0010211,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0010211,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0010211,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0010211,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0010212,GARD:0022510,GARD:0013388,,Rare skin disease +GARD:0010212,GARD:0022524,GARD:0013388,,Rare neurologic disease +GARD:0010212,GARD:0022513,GARD:0013388,,Rare developmental defect during embryogenesis +GARD:0010212,GARD:0022531,GARD:0013388,,Rare genetic disease +GARD:0010212,GARD:0022521,GARD:0013388,,Rare endocrine disease +GARD:0010213,GARD:0022513,GARD:0000023,,Rare developmental defect during embryogenesis +GARD:0010213,GARD:0022520,GARD:0000023,,Rare ophthalmic disorder +GARD:0010213,GARD:0022531,GARD:0000023,,Rare genetic disease +GARD:0010214,GARD:0022508,GARD:0020661,,Rare inborn errors of metabolism +GARD:0010214,GARD:0022531,GARD:0020661,,Rare genetic disease +GARD:0010215,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0010215,GARD:0022508,GARD:0020661,,Rare inborn errors of metabolism +GARD:0010215,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0010215,GARD:0022531,GARD:0020661,,Rare genetic disease +GARD:0010216,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0010216,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0010216,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0010216,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0010216,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0010216,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0010216,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0010216,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0010220,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0010220,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0010220,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0010220,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0010221,GARD:0022531,GARD:0020312,GARD:0016048,Rare genetic disease +GARD:0010221,GARD:0022536,GARD:0019218,GARD:0016048,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010221,GARD:0022531,GARD:0010801,GARD:0016048,Rare genetic disease +GARD:0010221,GARD:0022536,GARD:0010801,GARD:0016048,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010221,GARD:0022512,GARD:0010801,GARD:0016048,Rare renal disease +GARD:0010221,GARD:0022531,GARD:0019218,GARD:0016048,Rare genetic disease +GARD:0010221,GARD:0022512,GARD:0019218,GARD:0016048,Rare renal disease +GARD:0010221,GARD:0022521,GARD:0020216,GARD:0016048,Rare endocrine disease +GARD:0010221,GARD:0022513,GARD:0019218,GARD:0016048,Rare developmental defect during embryogenesis +GARD:0010223,GARD:0022515,GARD:0020529,,Rare cardiac disease +GARD:0010223,GARD:0022536,GARD:0020529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010223,GARD:0022531,GARD:0018947,,Rare genetic disease +GARD:0010223,GARD:0022508,GARD:0018947,,Rare inborn errors of metabolism +GARD:0010223,GARD:0022531,GARD:0020529,,Rare genetic disease +GARD:0010224,GARD:0022509,GARD:0020047,,Rare infectious disease +GARD:0010225,GARD:0022535,GARD:0019765,,Rare neoplastic disease +GARD:0010225,GARD:0022535,GARD:0003830,,Rare neoplastic disease +GARD:0010225,GARD:0022531,GARD:0003830,,Rare genetic disease +GARD:0010225,GARD:0022521,GARD:0019765,,Rare endocrine disease +GARD:0010225,GARD:0022521,GARD:0003830,,Rare endocrine disease +GARD:0010225,GARD:0022516,GARD:0003830,,Rare gastroenterologic disease +GARD:0010226,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0010226,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010226,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0010226,GARD:0022531,GARD:0021344,,Rare genetic disease +GARD:0010226,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010226,GARD:0022513,GARD:0021607,,Rare developmental defect during embryogenesis +GARD:0010226,GARD:0022531,GARD:0021607,,Rare genetic disease +GARD:0010226,GARD:0022531,GARD:0021609,,Rare genetic disease +GARD:0010226,GARD:0022528,GARD:0021612,,Rare otorhinolaryngologic disease +GARD:0010226,GARD:0022531,GARD:0021612,,Rare genetic disease +GARD:0010226,GARD:0022508,GARD:0021344,,Rare inborn errors of metabolism +GARD:0010226,GARD:0022519,GARD:0021607,,Rare surgical cardiac disease +GARD:0010226,GARD:0022513,GARD:0021609,,Rare developmental defect during embryogenesis +GARD:0010226,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0010226,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0010226,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0010226,GARD:0022513,GARD:0021612,,Rare developmental defect during embryogenesis +GARD:0010229,GARD:0022524,GARD:0019824,,Rare neurologic disease +GARD:0010229,GARD:0022531,GARD:0020440,,Rare genetic disease +GARD:0010229,GARD:0022531,GARD:0019824,,Rare genetic disease +GARD:0010229,GARD:0022524,GARD:0020440,,Rare neurologic disease +GARD:0010230,GARD:0022536,GARD:0016865,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010230,GARD:0022524,GARD:0016865,,Rare neurologic disease +GARD:0010230,GARD:0022531,GARD:0016865,,Rare genetic disease +GARD:0010230,GARD:0022515,GARD:0016865,,Rare cardiac disease +GARD:0010237,GARD:0022508,GARD:0021231,,Rare inborn errors of metabolism +GARD:0010237,GARD:0022531,GARD:0021231,,Rare genetic disease +GARD:0010237,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0010237,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0010238,GARD:0022531,GARD:0022531,,Rare genetic disease +GARD:0010239,GARD:0022531,GARD:0020312,,Rare genetic disease +GARD:0010239,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0010239,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0010239,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0010239,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0010239,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0010239,GARD:0022521,GARD:0020215,,Rare endocrine disease +GARD:0010241,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0010241,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0010241,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0010241,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0010241,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0010241,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0010241,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0010241,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0010241,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010244,GARD:0022508,GARD:0006414,,Rare inborn errors of metabolism +GARD:0010244,GARD:0022531,GARD:0006414,,Rare genetic disease +GARD:0010244,GARD:0022521,GARD:0006414,,Rare endocrine disease +GARD:0010247,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0010247,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0010247,GARD:0022531,GARD:0019506,,Rare genetic disease +GARD:0010247,GARD:0022531,GARD:0019504,,Rare genetic disease +GARD:0010247,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010247,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0010247,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0010247,GARD:0022513,GARD:0019503,,Rare developmental defect during embryogenesis +GARD:0010247,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010247,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0010247,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0010247,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0010247,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0010247,GARD:0022524,GARD:0021965,,Rare neurologic disease +GARD:0010247,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0010247,GARD:0022520,GARD:0019506,,Rare ophthalmic disorder +GARD:0010247,GARD:0022531,GARD:0022178,,Rare genetic disease +GARD:0010247,GARD:0022513,GARD:0019504,,Rare developmental defect during embryogenesis +GARD:0010247,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0010247,GARD:0022531,GARD:0021965,,Rare genetic disease +GARD:0010247,GARD:0022520,GARD:0019504,,Rare ophthalmic disorder +GARD:0010247,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010247,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010247,GARD:0022531,GARD:0019503,,Rare genetic disease +GARD:0010247,GARD:0022520,GARD:0019503,,Rare ophthalmic disorder +GARD:0010247,GARD:0022520,GARD:0019517,,Rare ophthalmic disorder +GARD:0010247,GARD:0022513,GARD:0019506,,Rare developmental defect during embryogenesis +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0017930,Rare genetic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0017930,Rare neurologic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0005153,Rare genetic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0006464,Rare genetic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0008197,Rare neurologic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0017496,Rare neurologic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0017112,Rare genetic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0017520,Rare genetic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0021369,Rare genetic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0007830,Rare genetic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0006464,Rare neurologic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0022356,Rare genetic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0021369,Rare neurologic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0000550,Rare neurologic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0017604,Rare neurologic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0017604,Rare genetic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0007830,Rare neurologic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0010303,Rare neurologic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0022356,Rare neurologic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0019685,Rare genetic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0021173,Rare genetic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0021173,Rare neurologic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0017112,Rare neurologic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0009294,Rare genetic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0019685,Rare neurologic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0005153,Rare neurologic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0010303,Rare genetic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0000550,Rare genetic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0017520,Rare neurologic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0008197,Rare genetic disease +GARD:0010248,GARD:0022524,GARD:0020099,GARD:0009294,Rare neurologic disease +GARD:0010248,GARD:0022531,GARD:0020099,GARD:0017496,Rare genetic disease +GARD:0010252,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0010252,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0010263,GARD:0022514,GARD:0020748,GARD:0020749,Rare gynecologic or obstetric disease +GARD:0010263,GARD:0022535,GARD:0020748,GARD:0017224,Rare neoplastic disease +GARD:0010263,GARD:0022514,GARD:0020748,GARD:0017224,Rare gynecologic or obstetric disease +GARD:0010263,GARD:0022535,GARD:0020748,GARD:0020749,Rare neoplastic disease +GARD:0010266,GARD:0022531,GARD:0019492,GARD:0017492,Rare genetic disease +GARD:0010266,GARD:0022531,GARD:0006611,GARD:0017493,Rare genetic disease +GARD:0010266,GARD:0022531,GARD:0019492,GARD:0016929,Rare genetic disease +GARD:0010266,GARD:0022531,GARD:0006611,GARD:0017489,Rare genetic disease +GARD:0010266,GARD:0022524,GARD:0021960,GARD:0016930,Rare neurologic disease +GARD:0010266,GARD:0022531,GARD:0019492,GARD:0016930,Rare genetic disease +GARD:0010266,GARD:0022524,GARD:0021960,GARD:0017492,Rare neurologic disease +GARD:0010266,GARD:0022536,GARD:0018676,GARD:0016930,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010266,GARD:0022524,GARD:0019492,GARD:0017492,Rare neurologic disease +GARD:0010266,GARD:0022531,GARD:0019492,GARD:0017489,Rare genetic disease +GARD:0010266,GARD:0022524,GARD:0019492,GARD:0017493,Rare neurologic disease +GARD:0010266,GARD:0022525,GARD:0018676,GARD:0017490,Rare systemic or rheumatologic disease +GARD:0010266,GARD:0022524,GARD:0021960,GARD:0016929,Rare neurologic disease +GARD:0010266,GARD:0022525,GARD:0018676,GARD:0016929,Rare systemic or rheumatologic disease +GARD:0010266,GARD:0022524,GARD:0021960,GARD:0017489,Rare neurologic disease +GARD:0010266,GARD:0022524,GARD:0019492,GARD:0017491,Rare neurologic disease +GARD:0010266,GARD:0022525,GARD:0018676,GARD:0017492,Rare systemic or rheumatologic disease +GARD:0010266,GARD:0022531,GARD:0019492,GARD:0017490,Rare genetic disease +GARD:0010266,GARD:0022524,GARD:0019492,GARD:0017490,Rare neurologic disease +GARD:0010266,GARD:0022525,GARD:0018676,GARD:0017489,Rare systemic or rheumatologic disease +GARD:0010266,GARD:0022531,GARD:0021960,GARD:0017491,Rare genetic disease +GARD:0010266,GARD:0022531,GARD:0021960,GARD:0016930,Rare genetic disease +GARD:0010266,GARD:0022524,GARD:0021960,GARD:0017490,Rare neurologic disease +GARD:0010266,GARD:0022536,GARD:0018676,GARD:0017491,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010266,GARD:0022536,GARD:0018676,GARD:0017490,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010266,GARD:0022525,GARD:0018676,GARD:0017493,Rare systemic or rheumatologic disease +GARD:0010266,GARD:0022536,GARD:0018676,GARD:0017493,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010266,GARD:0022524,GARD:0021960,GARD:0017491,Rare neurologic disease +GARD:0010266,GARD:0022525,GARD:0018676,GARD:0017491,Rare systemic or rheumatologic disease +GARD:0010266,GARD:0022531,GARD:0006611,GARD:0017491,Rare genetic disease +GARD:0010266,GARD:0022531,GARD:0006611,GARD:0017490,Rare genetic disease +GARD:0010266,GARD:0022531,GARD:0019492,GARD:0017491,Rare genetic disease +GARD:0010266,GARD:0022524,GARD:0021960,GARD:0017493,Rare neurologic disease +GARD:0010266,GARD:0022524,GARD:0019492,GARD:0016929,Rare neurologic disease +GARD:0010266,GARD:0022536,GARD:0018676,GARD:0017489,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010266,GARD:0022536,GARD:0018676,GARD:0016929,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010266,GARD:0022531,GARD:0019492,GARD:0017493,Rare genetic disease +GARD:0010266,GARD:0022531,GARD:0021960,GARD:0017492,Rare genetic disease +GARD:0010266,GARD:0022531,GARD:0021960,GARD:0017493,Rare genetic disease +GARD:0010266,GARD:0022524,GARD:0019492,GARD:0016930,Rare neurologic disease +GARD:0010266,GARD:0022531,GARD:0021960,GARD:0016929,Rare genetic disease +GARD:0010266,GARD:0022531,GARD:0006611,GARD:0016930,Rare genetic disease +GARD:0010266,GARD:0022531,GARD:0021960,GARD:0017489,Rare genetic disease +GARD:0010266,GARD:0022531,GARD:0021960,GARD:0017490,Rare genetic disease +GARD:0010266,GARD:0022525,GARD:0018676,GARD:0016930,Rare systemic or rheumatologic disease +GARD:0010266,GARD:0022524,GARD:0019492,GARD:0017489,Rare neurologic disease +GARD:0010266,GARD:0022531,GARD:0006611,GARD:0016929,Rare genetic disease +GARD:0010266,GARD:0022531,GARD:0006611,GARD:0017492,Rare genetic disease +GARD:0010266,GARD:0022536,GARD:0018676,GARD:0017492,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010267,GARD:0022524,GARD:0020552,,Rare neurologic disease +GARD:0010267,GARD:0022531,GARD:0018967,,Rare genetic disease +GARD:0010267,GARD:0022508,GARD:0018967,,Rare inborn errors of metabolism +GARD:0010267,GARD:0022531,GARD:0020552,,Rare genetic disease +GARD:0010277,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0010277,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0010277,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0010277,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0010277,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0010277,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0010280,GARD:0022536,GARD:0019874,GARD:0015691,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010280,GARD:0022531,GARD:0019208,GARD:0015049,Rare genetic disease +GARD:0010280,GARD:0022513,GARD:0019208,GARD:0015151,Rare developmental defect during embryogenesis +GARD:0010280,GARD:0022511,GARD:0019208,GARD:0015691,Rare bone disease +GARD:0010280,GARD:0022536,GARD:0019874,GARD:0015151,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010280,GARD:0022534,GARD:0019874,GARD:0015151,Rare abdominal surgical disease +GARD:0010280,GARD:0022513,GARD:0019208,GARD:0015049,Rare developmental defect during embryogenesis +GARD:0010280,GARD:0022534,GARD:0019874,GARD:0015049,Rare abdominal surgical disease +GARD:0010280,GARD:0022511,GARD:0019208,GARD:0015049,Rare bone disease +GARD:0010280,GARD:0022531,GARD:0019874,GARD:0015049,Rare genetic disease +GARD:0010280,GARD:0022513,GARD:0019874,GARD:0015049,Rare developmental defect during embryogenesis +GARD:0010280,GARD:0022511,GARD:0019208,GARD:0015151,Rare bone disease +GARD:0010280,GARD:0022513,GARD:0019874,GARD:0015151,Rare developmental defect during embryogenesis +GARD:0010280,GARD:0022531,GARD:0019208,GARD:0015691,Rare genetic disease +GARD:0010280,GARD:0022531,GARD:0019874,GARD:0015691,Rare genetic disease +GARD:0010280,GARD:0022534,GARD:0019874,GARD:0015691,Rare abdominal surgical disease +GARD:0010280,GARD:0022531,GARD:0019208,GARD:0015151,Rare genetic disease +GARD:0010280,GARD:0022513,GARD:0019874,GARD:0015691,Rare developmental defect during embryogenesis +GARD:0010280,GARD:0022513,GARD:0019208,GARD:0015691,Rare developmental defect during embryogenesis +GARD:0010280,GARD:0022531,GARD:0019874,GARD:0015151,Rare genetic disease +GARD:0010280,GARD:0022536,GARD:0019874,GARD:0015049,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010281,GARD:0022520,GARD:0005701,,Rare ophthalmic disorder +GARD:0010281,GARD:0022531,GARD:0005701,,Rare genetic disease +GARD:0010281,GARD:0022534,GARD:0005701,,Rare abdominal surgical disease +GARD:0010281,GARD:0022536,GARD:0005701,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010281,GARD:0022521,GARD:0005701,,Rare endocrine disease +GARD:0010281,GARD:0022513,GARD:0005701,,Rare developmental defect during embryogenesis +GARD:0010283,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010283,GARD:0022531,GARD:0018969,,Rare genetic disease +GARD:0010283,GARD:0022531,GARD:0019199,,Rare genetic disease +GARD:0010283,GARD:0022513,GARD:0018969,,Rare developmental defect during embryogenesis +GARD:0010283,GARD:0022513,GARD:0019199,,Rare developmental defect during embryogenesis +GARD:0010283,GARD:0022508,GARD:0018969,,Rare inborn errors of metabolism +GARD:0010283,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010283,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010283,GARD:0022511,GARD:0019199,,Rare bone disease +GARD:0010287,GARD:0022531,GARD:0019574,,Rare genetic disease +GARD:0010287,GARD:0022524,GARD:0002173,,Rare neurologic disease +GARD:0010287,GARD:0022531,GARD:0002173,,Rare genetic disease +GARD:0010288,GARD:0022531,GARD:0003262,,Rare genetic disease +GARD:0010288,GARD:0022508,GARD:0003262,,Rare inborn errors of metabolism +GARD:0010288,GARD:0022524,GARD:0003262,,Rare neurologic disease +GARD:0010290,GARD:0022513,GARD:0020209,,Rare developmental defect during embryogenesis +GARD:0010290,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0010290,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0010290,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0010290,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0010290,GARD:0022526,GARD:0020209,,Rare odontologic disease +GARD:0010290,GARD:0022531,GARD:0020209,,Rare genetic disease +GARD:0010291,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0010291,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0010291,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0010291,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0010291,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0010294,GARD:0022508,GARD:0010423,GARD:0016403,Rare inborn errors of metabolism +GARD:0010294,GARD:0022531,GARD:0022440,GARD:0015539,Rare genetic disease +GARD:0010294,GARD:0022531,GARD:0010423,GARD:0015539,Rare genetic disease +GARD:0010294,GARD:0022524,GARD:0022440,GARD:0015539,Rare neurologic disease +GARD:0010294,GARD:0022524,GARD:0018718,GARD:0015539,Rare neurologic disease +GARD:0010294,GARD:0022531,GARD:0022440,GARD:0016403,Rare genetic disease +GARD:0010294,GARD:0022524,GARD:0010423,GARD:0016403,Rare neurologic disease +GARD:0010294,GARD:0022524,GARD:0022440,GARD:0016403,Rare neurologic disease +GARD:0010294,GARD:0022531,GARD:0018718,GARD:0015539,Rare genetic disease +GARD:0010294,GARD:0022508,GARD:0010423,GARD:0015539,Rare inborn errors of metabolism +GARD:0010294,GARD:0022531,GARD:0018718,GARD:0016403,Rare genetic disease +GARD:0010294,GARD:0022531,GARD:0010423,GARD:0016403,Rare genetic disease +GARD:0010294,GARD:0022524,GARD:0018718,GARD:0016403,Rare neurologic disease +GARD:0010294,GARD:0022524,GARD:0010423,GARD:0015539,Rare neurologic disease +GARD:0010295,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0010295,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0010295,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0010295,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0010295,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010295,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0010295,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0010295,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0010295,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0010296,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0010296,GARD:0022524,GARD:0019389,,Rare neurologic disease +GARD:0010296,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0010296,GARD:0022513,GARD:0020834,,Rare developmental defect during embryogenesis +GARD:0010296,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010296,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010296,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010296,GARD:0022531,GARD:0020834,,Rare genetic disease +GARD:0010297,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0010297,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0010297,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0010299,GARD:0022531,GARD:0022441,GARD:0015118,Rare genetic disease +GARD:0010299,GARD:0022531,GARD:0020223,GARD:0015123,Rare genetic disease +GARD:0010299,GARD:0022528,GARD:0019145,GARD:0015123,Rare otorhinolaryngologic disease +GARD:0010299,GARD:0022536,GARD:0019218,GARD:0015118,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010299,GARD:0022531,GARD:0019896,GARD:0015118,Rare genetic disease +GARD:0010299,GARD:0022531,GARD:0019145,GARD:0015118,Rare genetic disease +GARD:0010299,GARD:0022507,GARD:0019896,GARD:0015118,Rare maxillo-facial surgical disease +GARD:0010299,GARD:0022513,GARD:0019145,GARD:0015123,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022513,GARD:0019145,GARD:0015118,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022523,GARD:0021511,GARD:0015118,Rare immune disease +GARD:0010299,GARD:0022507,GARD:0019896,GARD:0015123,Rare maxillo-facial surgical disease +GARD:0010299,GARD:0022521,GARD:0020223,GARD:0015118,Rare endocrine disease +GARD:0010299,GARD:0022513,GARD:0019218,GARD:0015123,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022534,GARD:0019874,GARD:0015123,Rare abdominal surgical disease +GARD:0010299,GARD:0022524,GARD:0019389,GARD:0015118,Rare neurologic disease +GARD:0010299,GARD:0022528,GARD:0019145,GARD:0015118,Rare otorhinolaryngologic disease +GARD:0010299,GARD:0022531,GARD:0019874,GARD:0015123,Rare genetic disease +GARD:0010299,GARD:0022523,GARD:0021511,GARD:0015123,Rare immune disease +GARD:0010299,GARD:0022513,GARD:0020003,GARD:0015123,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022512,GARD:0019218,GARD:0015123,Rare renal disease +GARD:0010299,GARD:0022513,GARD:0020841,GARD:0015118,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022531,GARD:0021511,GARD:0015123,Rare genetic disease +GARD:0010299,GARD:0022513,GARD:0019907,GARD:0015123,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022531,GARD:0021511,GARD:0015118,Rare genetic disease +GARD:0010299,GARD:0022531,GARD:0019218,GARD:0015118,Rare genetic disease +GARD:0010299,GARD:0022524,GARD:0019832,GARD:0015123,Rare neurologic disease +GARD:0010299,GARD:0022531,GARD:0020003,GARD:0015118,Rare genetic disease +GARD:0010299,GARD:0022531,GARD:0020841,GARD:0015118,Rare genetic disease +GARD:0010299,GARD:0022521,GARD:0020223,GARD:0015123,Rare endocrine disease +GARD:0010299,GARD:0022531,GARD:0019145,GARD:0015123,Rare genetic disease +GARD:0010299,GARD:0022531,GARD:0020223,GARD:0015118,Rare genetic disease +GARD:0010299,GARD:0022534,GARD:0019874,GARD:0015118,Rare abdominal surgical disease +GARD:0010299,GARD:0022524,GARD:0019832,GARD:0015118,Rare neurologic disease +GARD:0010299,GARD:0022513,GARD:0019896,GARD:0015118,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022513,GARD:0019832,GARD:0015123,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022519,GARD:0020003,GARD:0015123,Rare surgical cardiac disease +GARD:0010299,GARD:0022524,GARD:0019389,GARD:0015123,Rare neurologic disease +GARD:0010299,GARD:0022512,GARD:0019218,GARD:0015118,Rare renal disease +GARD:0010299,GARD:0022513,GARD:0019896,GARD:0015123,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022513,GARD:0019874,GARD:0015118,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022536,GARD:0019218,GARD:0015123,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010299,GARD:0022531,GARD:0020841,GARD:0015123,Rare genetic disease +GARD:0010299,GARD:0022528,GARD:0019896,GARD:0015118,Rare otorhinolaryngologic disease +GARD:0010299,GARD:0022513,GARD:0019874,GARD:0015123,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022531,GARD:0020003,GARD:0015123,Rare genetic disease +GARD:0010299,GARD:0022536,GARD:0019874,GARD:0015118,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010299,GARD:0022531,GARD:0019218,GARD:0015123,Rare genetic disease +GARD:0010299,GARD:0022513,GARD:0020003,GARD:0015118,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022513,GARD:0019218,GARD:0015118,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022519,GARD:0020003,GARD:0015118,Rare surgical cardiac disease +GARD:0010299,GARD:0022528,GARD:0019896,GARD:0015123,Rare otorhinolaryngologic disease +GARD:0010299,GARD:0022531,GARD:0019874,GARD:0015118,Rare genetic disease +GARD:0010299,GARD:0022531,GARD:0022441,GARD:0015123,Rare genetic disease +GARD:0010299,GARD:0022513,GARD:0019907,GARD:0015118,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022531,GARD:0019896,GARD:0015123,Rare genetic disease +GARD:0010299,GARD:0022536,GARD:0019874,GARD:0015123,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010299,GARD:0022513,GARD:0019832,GARD:0015118,Rare developmental defect during embryogenesis +GARD:0010299,GARD:0022513,GARD:0020841,GARD:0015123,Rare developmental defect during embryogenesis +GARD:0010300,GARD:0022520,GARD:0022100,,Rare ophthalmic disorder +GARD:0010300,GARD:0022531,GARD:0022084,,Rare genetic disease +GARD:0010300,GARD:0022520,GARD:0022084,,Rare ophthalmic disorder +GARD:0010300,GARD:0022531,GARD:0022187,,Rare genetic disease +GARD:0010300,GARD:0022513,GARD:0022084,,Rare developmental defect during embryogenesis +GARD:0010301,GARD:0022520,GARD:0022099,,Rare ophthalmic disorder +GARD:0010301,GARD:0022531,GARD:0022099,,Rare genetic disease +GARD:0010302,GARD:0022513,GARD:0021467,,Rare developmental defect during embryogenesis +GARD:0010302,GARD:0022521,GARD:0021467,,Rare endocrine disease +GARD:0010302,GARD:0022531,GARD:0021467,,Rare genetic disease +GARD:0010302,GARD:0022532,GARD:0021467,,Rare urogenital disease +GARD:0010303,GARD:0022531,GARD:0010248,,Rare genetic disease +GARD:0010303,GARD:0022524,GARD:0010248,,Rare neurologic disease +GARD:0010304,GARD:0022513,GARD:0020865,,Rare developmental defect during embryogenesis +GARD:0010304,GARD:0022531,GARD:0020865,,Rare genetic disease +GARD:0010306,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0010306,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0010307,GARD:0022508,GARD:0022508,GARD:0021336,Rare inborn errors of metabolism +GARD:0010307,GARD:0022508,GARD:0022508,GARD:0021342,Rare inborn errors of metabolism +GARD:0010307,GARD:0022531,GARD:0022508,GARD:0021336,Rare genetic disease +GARD:0010307,GARD:0022531,GARD:0022508,GARD:0021343,Rare genetic disease +GARD:0010307,GARD:0022531,GARD:0022508,GARD:0021342,Rare genetic disease +GARD:0010307,GARD:0022508,GARD:0022508,GARD:0021343,Rare inborn errors of metabolism +GARD:0010307,GARD:0022531,GARD:0022508,GARD:0021335,Rare genetic disease +GARD:0010307,GARD:0022508,GARD:0022508,GARD:0021335,Rare inborn errors of metabolism +GARD:0010311,GARD:0022531,GARD:0020322,,Rare genetic disease +GARD:0010311,GARD:0022523,GARD:0020322,,Rare immune disease +GARD:0010312,GARD:0022531,GARD:0020426,,Rare genetic disease +GARD:0010312,GARD:0022531,GARD:0019478,,Rare genetic disease +GARD:0010312,GARD:0022524,GARD:0019478,,Rare neurologic disease +GARD:0010313,GARD:0022531,GARD:0021796,,Rare genetic disease +GARD:0010313,GARD:0022524,GARD:0021796,,Rare neurologic disease +GARD:0010313,GARD:0022531,GARD:0020434,,Rare genetic disease +GARD:0010314,GARD:0022531,GARD:0019478,,Rare genetic disease +GARD:0010314,GARD:0022524,GARD:0019478,,Rare neurologic disease +GARD:0010316,GARD:0022531,GARD:0019567,,Rare genetic disease +GARD:0010316,GARD:0022524,GARD:0019567,,Rare neurologic disease +GARD:0010316,GARD:0022524,GARD:0016536,,Rare neurologic disease +GARD:0010316,GARD:0022531,GARD:0016536,,Rare genetic disease +GARD:0010317,GARD:0022531,GARD:0009138,,Rare genetic disease +GARD:0010317,GARD:0022524,GARD:0009138,,Rare neurologic disease +GARD:0010317,GARD:0022531,GARD:0021519,,Rare genetic disease +GARD:0010317,GARD:0022508,GARD:0021519,,Rare inborn errors of metabolism +GARD:0010319,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0010319,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0010320,GARD:0022520,GARD:0009678,,Rare ophthalmic disorder +GARD:0010320,GARD:0022531,GARD:0009678,,Rare genetic disease +GARD:0010321,GARD:0022508,GARD:0012966,,Rare inborn errors of metabolism +GARD:0010321,GARD:0022531,GARD:0012966,,Rare genetic disease +GARD:0010321,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010321,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010322,GARD:0022531,GARD:0020552,,Rare genetic disease +GARD:0010322,GARD:0022531,GARD:0018947,,Rare genetic disease +GARD:0010322,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0010322,GARD:0022508,GARD:0018947,,Rare inborn errors of metabolism +GARD:0010322,GARD:0022524,GARD:0020552,,Rare neurologic disease +GARD:0010322,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0010323,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0010323,GARD:0022524,GARD:0018952,,Rare neurologic disease +GARD:0010323,GARD:0022508,GARD:0018952,,Rare inborn errors of metabolism +GARD:0010323,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0010323,GARD:0022531,GARD:0018952,,Rare genetic disease +GARD:0010324,GARD:0022508,GARD:0007383,,Rare inborn errors of metabolism +GARD:0010324,GARD:0022531,GARD:0007383,,Rare genetic disease +GARD:0010324,GARD:0022524,GARD:0007383,,Rare neurologic disease +GARD:0010327,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0010327,GARD:0022531,GARD:0021517,,Rare genetic disease +GARD:0010327,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0010327,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0010327,GARD:0022508,GARD:0021517,,Rare inborn errors of metabolism +GARD:0010327,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0010332,GARD:0022531,GARD:0021127,,Rare genetic disease +GARD:0010332,GARD:0022508,GARD:0021127,,Rare inborn errors of metabolism +GARD:0010333,GARD:0022536,GARD:0012459,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010333,GARD:0022522,GARD:0012459,,Rare hematologic disease +GARD:0010333,GARD:0022531,GARD:0012459,,Rare genetic disease +GARD:0010335,GARD:0022531,GARD:0007065,GARD:0012561,Rare genetic disease +GARD:0010335,GARD:0022508,GARD:0007065,GARD:0012561,Rare inborn errors of metabolism +GARD:0010335,GARD:0022511,GARD:0019203,GARD:0012561,Rare bone disease +GARD:0010335,GARD:0022531,GARD:0019203,GARD:0012561,Rare genetic disease +GARD:0010335,GARD:0022520,GARD:0007065,GARD:0012561,Rare ophthalmic disorder +GARD:0010335,GARD:0022508,GARD:0007065,GARD:0012559,Rare inborn errors of metabolism +GARD:0010335,GARD:0022513,GARD:0007065,GARD:0012560,Rare developmental defect during embryogenesis +GARD:0010335,GARD:0022536,GARD:0007065,GARD:0012559,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010335,GARD:0022531,GARD:0007065,GARD:0012560,Rare genetic disease +GARD:0010335,GARD:0022531,GARD:0019203,GARD:0012559,Rare genetic disease +GARD:0010335,GARD:0022511,GARD:0007065,GARD:0012559,Rare bone disease +GARD:0010335,GARD:0022513,GARD:0007065,GARD:0012561,Rare developmental defect during embryogenesis +GARD:0010335,GARD:0022511,GARD:0007065,GARD:0012560,Rare bone disease +GARD:0010335,GARD:0022531,GARD:0019203,GARD:0012560,Rare genetic disease +GARD:0010335,GARD:0022531,GARD:0018890,GARD:0012559,Rare genetic disease +GARD:0010335,GARD:0022511,GARD:0019203,GARD:0012560,Rare bone disease +GARD:0010335,GARD:0022508,GARD:0007065,GARD:0012560,Rare inborn errors of metabolism +GARD:0010335,GARD:0022520,GARD:0007065,GARD:0012559,Rare ophthalmic disorder +GARD:0010335,GARD:0022531,GARD:0007065,GARD:0012559,Rare genetic disease +GARD:0010335,GARD:0022524,GARD:0018890,GARD:0012561,Rare neurologic disease +GARD:0010335,GARD:0022531,GARD:0018890,GARD:0012561,Rare genetic disease +GARD:0010335,GARD:0022536,GARD:0007065,GARD:0012560,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010335,GARD:0022536,GARD:0007065,GARD:0012561,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010335,GARD:0022524,GARD:0018890,GARD:0012559,Rare neurologic disease +GARD:0010335,GARD:0022531,GARD:0018890,GARD:0012560,Rare genetic disease +GARD:0010335,GARD:0022520,GARD:0007065,GARD:0012560,Rare ophthalmic disorder +GARD:0010335,GARD:0022511,GARD:0019203,GARD:0012559,Rare bone disease +GARD:0010335,GARD:0022511,GARD:0007065,GARD:0012561,Rare bone disease +GARD:0010335,GARD:0022513,GARD:0007065,GARD:0012559,Rare developmental defect during embryogenesis +GARD:0010335,GARD:0022524,GARD:0018890,GARD:0012560,Rare neurologic disease +GARD:0010339,GARD:0022531,GARD:0021406,,Rare genetic disease +GARD:0010339,GARD:0022523,GARD:0021406,,Rare immune disease +GARD:0010339,GARD:0022536,GARD:0021406,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010341,GARD:0022531,GARD:0022441,GARD:0018079,Rare genetic disease +GARD:0010341,GARD:0022513,GARD:0019832,GARD:0018079,Rare developmental defect during embryogenesis +GARD:0010341,GARD:0022524,GARD:0020339,GARD:0018077,Rare neurologic disease +GARD:0010341,GARD:0022524,GARD:0019832,GARD:0018079,Rare neurologic disease +GARD:0010341,GARD:0022513,GARD:0020339,GARD:0018079,Rare developmental defect during embryogenesis +GARD:0010341,GARD:0022524,GARD:0019832,GARD:0018078,Rare neurologic disease +GARD:0010341,GARD:0022531,GARD:0022441,GARD:0018078,Rare genetic disease +GARD:0010341,GARD:0022513,GARD:0020339,GARD:0018078,Rare developmental defect during embryogenesis +GARD:0010341,GARD:0022531,GARD:0021010,GARD:0018077,Rare genetic disease +GARD:0010341,GARD:0022524,GARD:0020339,GARD:0018078,Rare neurologic disease +GARD:0010341,GARD:0022531,GARD:0022441,GARD:0018077,Rare genetic disease +GARD:0010341,GARD:0022524,GARD:0019832,GARD:0018077,Rare neurologic disease +GARD:0010341,GARD:0022531,GARD:0021010,GARD:0018079,Rare genetic disease +GARD:0010341,GARD:0022513,GARD:0020339,GARD:0018077,Rare developmental defect during embryogenesis +GARD:0010341,GARD:0022513,GARD:0019832,GARD:0018078,Rare developmental defect during embryogenesis +GARD:0010341,GARD:0022524,GARD:0020339,GARD:0018079,Rare neurologic disease +GARD:0010341,GARD:0022531,GARD:0021010,GARD:0018078,Rare genetic disease +GARD:0010341,GARD:0022513,GARD:0019832,GARD:0018077,Rare developmental defect during embryogenesis +GARD:0010342,GARD:0022508,GARD:0012966,,Rare inborn errors of metabolism +GARD:0010342,GARD:0022531,GARD:0012966,,Rare genetic disease +GARD:0010342,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0010342,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0010346,GARD:0022535,GARD:0019074,,Rare neoplastic disease +GARD:0010346,GARD:0022536,GARD:0019074,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010346,GARD:0022522,GARD:0019074,,Rare hematologic disease +GARD:0010351,GARD:0022531,GARD:0019570,,Rare genetic disease +GARD:0010351,GARD:0022531,GARD:0019253,,Rare genetic disease +GARD:0010351,GARD:0022524,GARD:0019253,,Rare neurologic disease +GARD:0010352,GARD:0022535,GARD:0022461,GARD:0015329,Rare neoplastic disease +GARD:0010352,GARD:0022531,GARD:0019470,GARD:0015329,Rare genetic disease +GARD:0010352,GARD:0022531,GARD:0022461,GARD:0015329,Rare genetic disease +GARD:0010352,GARD:0022522,GARD:0019470,GARD:0015329,Rare hematologic disease +GARD:0010352,GARD:0022522,GARD:0021968,GARD:0015329,Rare hematologic disease +GARD:0010352,GARD:0022531,GARD:0021968,GARD:0015329,Rare genetic disease +GARD:0010353,GARD:0022531,GARD:0020277,GARD:0004446,Rare genetic disease +GARD:0010353,GARD:0022531,GARD:0021346,GARD:0010948,Rare genetic disease +GARD:0010353,GARD:0022531,GARD:0019229,GARD:0017755,Rare genetic disease +GARD:0010353,GARD:0022510,GARD:0019018,GARD:0019255,Rare skin disease +GARD:0010353,GARD:0022531,GARD:0019015,GARD:0004527,Rare genetic disease +GARD:0010353,GARD:0022531,GARD:0019015,GARD:0019255,Rare genetic disease +GARD:0010353,GARD:0022508,GARD:0021346,GARD:0004446,Rare inborn errors of metabolism +GARD:0010353,GARD:0022531,GARD:0021346,GARD:0004527,Rare genetic disease +GARD:0010353,GARD:0022531,GARD:0021346,GARD:0019256,Rare genetic disease +GARD:0010353,GARD:0022508,GARD:0021346,GARD:0017755,Rare inborn errors of metabolism +GARD:0010353,GARD:0022531,GARD:0020277,GARD:0019255,Rare genetic disease +GARD:0010353,GARD:0022531,GARD:0019015,GARD:0010948,Rare genetic disease +GARD:0010353,GARD:0022531,GARD:0020277,GARD:0017755,Rare genetic disease +GARD:0010353,GARD:0022531,GARD:0019229,GARD:0010948,Rare genetic disease +GARD:0010353,GARD:0022510,GARD:0019018,GARD:0010948,Rare skin disease +GARD:0010353,GARD:0022512,GARD:0019229,GARD:0010948,Rare renal disease +GARD:0010353,GARD:0022512,GARD:0019229,GARD:0004527,Rare renal disease +GARD:0010353,GARD:0022510,GARD:0019015,GARD:0019255,Rare skin disease +GARD:0010353,GARD:0022531,GARD:0019229,GARD:0019256,Rare genetic disease +GARD:0010353,GARD:0022531,GARD:0019015,GARD:0004446,Rare genetic disease +GARD:0010353,GARD:0022531,GARD:0021346,GARD:0004446,Rare genetic disease +GARD:0010353,GARD:0022510,GARD:0019015,GARD:0010948,Rare skin disease +GARD:0010353,GARD:0022508,GARD:0021346,GARD:0004527,Rare inborn errors of metabolism +GARD:0010353,GARD:0022510,GARD:0019018,GARD:0004527,Rare skin disease +GARD:0010353,GARD:0022531,GARD:0021346,GARD:0017755,Rare genetic disease +GARD:0010353,GARD:0022512,GARD:0019229,GARD:0017755,Rare renal disease +GARD:0010353,GARD:0022531,GARD:0020277,GARD:0004527,Rare genetic disease +GARD:0010353,GARD:0022531,GARD:0021346,GARD:0019255,Rare genetic disease +GARD:0010353,GARD:0022531,GARD:0019015,GARD:0019256,Rare genetic disease +GARD:0010353,GARD:0022531,GARD:0019229,GARD:0004527,Rare genetic disease +GARD:0010353,GARD:0022512,GARD:0019229,GARD:0019255,Rare renal disease +GARD:0010353,GARD:0022510,GARD:0019018,GARD:0017755,Rare skin disease +GARD:0010353,GARD:0022510,GARD:0019015,GARD:0019256,Rare skin disease +GARD:0010353,GARD:0022531,GARD:0019229,GARD:0019255,Rare genetic disease +GARD:0010353,GARD:0022531,GARD:0020277,GARD:0010948,Rare genetic disease +GARD:0010353,GARD:0022512,GARD:0019229,GARD:0004446,Rare renal disease +GARD:0010353,GARD:0022508,GARD:0021346,GARD:0019255,Rare inborn errors of metabolism +GARD:0010353,GARD:0022510,GARD:0019015,GARD:0004446,Rare skin disease +GARD:0010353,GARD:0022531,GARD:0019229,GARD:0004446,Rare genetic disease +GARD:0010353,GARD:0022512,GARD:0019229,GARD:0019256,Rare renal disease +GARD:0010353,GARD:0022510,GARD:0019015,GARD:0004527,Rare skin disease +GARD:0010353,GARD:0022510,GARD:0019015,GARD:0017755,Rare skin disease +GARD:0010353,GARD:0022510,GARD:0019018,GARD:0019256,Rare skin disease +GARD:0010353,GARD:0022531,GARD:0020277,GARD:0019256,Rare genetic disease +GARD:0010353,GARD:0022510,GARD:0019018,GARD:0004446,Rare skin disease +GARD:0010353,GARD:0022531,GARD:0019015,GARD:0017755,Rare genetic disease +GARD:0010353,GARD:0022508,GARD:0021346,GARD:0010948,Rare inborn errors of metabolism +GARD:0010353,GARD:0022508,GARD:0021346,GARD:0019256,Rare inborn errors of metabolism +GARD:0010354,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010354,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0010354,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010354,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0010354,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0010354,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0010354,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0010354,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0010354,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0010354,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0010354,GARD:0022518,GARD:0020212,,Rare surgical thoracic disease +GARD:0010354,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0010354,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010355,GARD:0022520,GARD:0022121,,Rare ophthalmic disorder +GARD:0010355,GARD:0022531,GARD:0022121,,Rare genetic disease +GARD:0010358,GARD:0022531,GARD:0019571,,Rare genetic disease +GARD:0010358,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010358,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010359,GARD:0022531,GARD:0009175,,Rare genetic disease +GARD:0010359,GARD:0022524,GARD:0009175,,Rare neurologic disease +GARD:0010360,GARD:0022531,GARD:0020874,,Rare genetic disease +GARD:0010360,GARD:0022513,GARD:0020874,,Rare developmental defect during embryogenesis +GARD:0010361,GARD:0022515,GARD:0001030,,Rare cardiac disease +GARD:0010361,GARD:0022531,GARD:0001030,,Rare genetic disease +GARD:0010362,GARD:0022531,GARD:0001030,,Rare genetic disease +GARD:0010362,GARD:0022515,GARD:0001030,,Rare cardiac disease +GARD:0010363,GARD:0022531,GARD:0019000,,Rare genetic disease +GARD:0010363,GARD:0022510,GARD:0019000,,Rare skin disease +GARD:0010364,GARD:0022513,GARD:0003048,,Rare developmental defect during embryogenesis +GARD:0010364,GARD:0022515,GARD:0003048,,Rare cardiac disease +GARD:0010364,GARD:0022528,GARD:0003048,,Rare otorhinolaryngologic disease +GARD:0010364,GARD:0022531,GARD:0003048,,Rare genetic disease +GARD:0010365,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010365,GARD:0022531,GARD:0012144,,Rare genetic disease +GARD:0010365,GARD:0022524,GARD:0012144,,Rare neurologic disease +GARD:0010365,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010365,GARD:0022508,GARD:0012144,,Rare inborn errors of metabolism +GARD:0010366,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0010366,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0010366,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0010367,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0010367,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0010367,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0010372,GARD:0022531,GARD:0021313,,Rare genetic disease +GARD:0010372,GARD:0022508,GARD:0021313,,Rare inborn errors of metabolism +GARD:0010372,GARD:0022531,GARD:0019844,,Rare genetic disease +GARD:0010372,GARD:0022516,GARD:0019844,,Rare gastroenterologic disease +GARD:0010373,GARD:0022531,GARD:0010867,,Rare genetic disease +GARD:0010373,GARD:0022535,GARD:0010867,,Rare neoplastic disease +GARD:0010373,GARD:0022510,GARD:0010867,,Rare skin disease +GARD:0010376,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010376,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010376,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010377,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010377,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010377,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010378,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010378,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010378,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010379,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010379,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010379,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010380,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010380,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010380,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010381,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010381,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010381,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010382,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010382,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010382,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010383,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010383,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010383,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010384,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010384,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010384,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010385,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010385,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010385,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010386,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010386,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010386,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010387,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010387,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010387,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010388,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010388,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010388,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010389,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010389,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010389,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010390,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010390,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010390,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010391,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010391,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010391,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010392,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010392,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010392,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010393,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010393,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010393,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010394,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010394,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010394,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010395,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010395,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010395,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010396,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010396,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010396,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010397,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010397,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010397,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010398,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010398,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010398,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010400,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010400,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010400,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010401,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010401,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010401,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010402,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010402,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010402,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010403,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010403,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010403,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010404,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010404,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010404,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010405,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0010405,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0010405,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0010407,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0010407,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0010407,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0010407,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0010407,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0010411,GARD:0022514,GARD:0021650,,Rare gynecologic or obstetric disease +GARD:0010411,GARD:0022535,GARD:0021650,,Rare neoplastic disease +GARD:0010413,GARD:0022529,GARD:0021677,GARD:0018598,Rare infertility +GARD:0010413,GARD:0022531,GARD:0019986,GARD:0018599,Rare genetic disease +GARD:0010413,GARD:0022531,GARD:0019228,GARD:0018599,Rare genetic disease +GARD:0010413,GARD:0022536,GARD:0022061,GARD:0018597,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010413,GARD:0022531,GARD:0021689,GARD:0018599,Rare genetic disease +GARD:0010413,GARD:0022536,GARD:0022061,GARD:0018599,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010413,GARD:0022536,GARD:0022061,GARD:0018598,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010413,GARD:0022531,GARD:0019228,GARD:0018598,Rare genetic disease +GARD:0010413,GARD:0022529,GARD:0021677,GARD:0018597,Rare infertility +GARD:0010413,GARD:0022512,GARD:0019228,GARD:0018597,Rare renal disease +GARD:0010413,GARD:0022531,GARD:0019228,GARD:0018597,Rare genetic disease +GARD:0010413,GARD:0022531,GARD:0021689,GARD:0018598,Rare genetic disease +GARD:0010413,GARD:0022531,GARD:0021689,GARD:0018597,Rare genetic disease +GARD:0010413,GARD:0022531,GARD:0019986,GARD:0018597,Rare genetic disease +GARD:0010413,GARD:0022529,GARD:0021677,GARD:0018599,Rare infertility +GARD:0010413,GARD:0022512,GARD:0019228,GARD:0018598,Rare renal disease +GARD:0010413,GARD:0022531,GARD:0019986,GARD:0018598,Rare genetic disease +GARD:0010413,GARD:0022512,GARD:0019228,GARD:0018599,Rare renal disease +GARD:0010414,GARD:0022521,GARD:0019754,,Rare endocrine disease +GARD:0010414,GARD:0022536,GARD:0019754,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010414,GARD:0022535,GARD:0019754,,Rare neoplastic disease +GARD:0010414,GARD:0022516,GARD:0019754,,Rare gastroenterologic disease +GARD:0010416,GARD:0022531,GARD:0021971,GARD:0018613,Rare genetic disease +GARD:0010416,GARD:0022531,GARD:0021971,GARD:0018614,Rare genetic disease +GARD:0010416,GARD:0022508,GARD:0021971,GARD:0008588,Rare inborn errors of metabolism +GARD:0010416,GARD:0022531,GARD:0021971,GARD:0008588,Rare genetic disease +GARD:0010416,GARD:0022508,GARD:0021971,GARD:0018614,Rare inborn errors of metabolism +GARD:0010416,GARD:0022521,GARD:0021971,GARD:0008588,Rare endocrine disease +GARD:0010416,GARD:0022508,GARD:0021971,GARD:0018613,Rare inborn errors of metabolism +GARD:0010416,GARD:0022521,GARD:0021971,GARD:0018614,Rare endocrine disease +GARD:0010416,GARD:0022521,GARD:0021971,GARD:0018613,Rare endocrine disease +GARD:0010417,GARD:0022536,GARD:0020540,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010417,GARD:0022508,GARD:0020540,,Rare inborn errors of metabolism +GARD:0010417,GARD:0022531,GARD:0020540,,Rare genetic disease +GARD:0010417,GARD:0022506,GARD:0020540,,Rare hepatic disease +GARD:0010418,GARD:0022522,GARD:0018873,GARD:0006591,Rare hematologic disease +GARD:0010418,GARD:0022531,GARD:0018873,GARD:0008732,Rare genetic disease +GARD:0010418,GARD:0022522,GARD:0018873,GARD:0008732,Rare hematologic disease +GARD:0010418,GARD:0022531,GARD:0018873,GARD:0006591,Rare genetic disease +GARD:0010419,GARD:0022524,GARD:0020360,GARD:0008310,Rare neurologic disease +GARD:0010419,GARD:0022531,GARD:0020372,GARD:0008310,Rare genetic disease +GARD:0010419,GARD:0022531,GARD:0020360,GARD:0009728,Rare genetic disease +GARD:0010419,GARD:0022531,GARD:0020360,GARD:0008310,Rare genetic disease +GARD:0010419,GARD:0022524,GARD:0020372,GARD:0008310,Rare neurologic disease +GARD:0010419,GARD:0022524,GARD:0020360,GARD:0009728,Rare neurologic disease +GARD:0010419,GARD:0022524,GARD:0020372,GARD:0009728,Rare neurologic disease +GARD:0010419,GARD:0022531,GARD:0020372,GARD:0009728,Rare genetic disease +GARD:0010423,GARD:0022524,GARD:0020555,GARD:0009283,Rare neurologic disease +GARD:0010423,GARD:0022524,GARD:0020555,GARD:0017239,Rare neurologic disease +GARD:0010423,GARD:0022524,GARD:0018890,GARD:0017796,Rare neurologic disease +GARD:0010423,GARD:0022508,GARD:0018771,GARD:0017239,Rare inborn errors of metabolism +GARD:0010423,GARD:0022524,GARD:0018890,GARD:0010294,Rare neurologic disease +GARD:0010423,GARD:0022524,GARD:0020555,GARD:0010294,Rare neurologic disease +GARD:0010423,GARD:0022524,GARD:0020556,GARD:0009283,Rare neurologic disease +GARD:0010423,GARD:0022531,GARD:0018771,GARD:0017295,Rare genetic disease +GARD:0010423,GARD:0022524,GARD:0020555,GARD:0017796,Rare neurologic disease +GARD:0010423,GARD:0022524,GARD:0020556,GARD:0017470,Rare neurologic disease +GARD:0010423,GARD:0022531,GARD:0018890,GARD:0010294,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0018890,GARD:0017796,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0020555,GARD:0017295,Rare genetic disease +GARD:0010423,GARD:0022508,GARD:0018771,GARD:0009283,Rare inborn errors of metabolism +GARD:0010423,GARD:0022531,GARD:0020556,GARD:0010294,Rare genetic disease +GARD:0010423,GARD:0022524,GARD:0020556,GARD:0017796,Rare neurologic disease +GARD:0010423,GARD:0022531,GARD:0020555,GARD:0017230,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0018890,GARD:0017230,Rare genetic disease +GARD:0010423,GARD:0022524,GARD:0018890,GARD:0009283,Rare neurologic disease +GARD:0010423,GARD:0022531,GARD:0018771,GARD:0017796,Rare genetic disease +GARD:0010423,GARD:0022524,GARD:0018890,GARD:0017295,Rare neurologic disease +GARD:0010423,GARD:0022531,GARD:0020555,GARD:0017796,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0018771,GARD:0010294,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0020556,GARD:0017796,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0018890,GARD:0009283,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0020556,GARD:0017295,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0018771,GARD:0017239,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0018771,GARD:0017470,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0020556,GARD:0017239,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0020556,GARD:0017470,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0020555,GARD:0017470,Rare genetic disease +GARD:0010423,GARD:0022508,GARD:0018771,GARD:0017230,Rare inborn errors of metabolism +GARD:0010423,GARD:0022531,GARD:0018771,GARD:0009283,Rare genetic disease +GARD:0010423,GARD:0022524,GARD:0020556,GARD:0017295,Rare neurologic disease +GARD:0010423,GARD:0022508,GARD:0018771,GARD:0010294,Rare inborn errors of metabolism +GARD:0010423,GARD:0022508,GARD:0018771,GARD:0017295,Rare inborn errors of metabolism +GARD:0010423,GARD:0022508,GARD:0018771,GARD:0017796,Rare inborn errors of metabolism +GARD:0010423,GARD:0022531,GARD:0018771,GARD:0017230,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0018890,GARD:0017239,Rare genetic disease +GARD:0010423,GARD:0022524,GARD:0020555,GARD:0017295,Rare neurologic disease +GARD:0010423,GARD:0022524,GARD:0020556,GARD:0017230,Rare neurologic disease +GARD:0010423,GARD:0022531,GARD:0018890,GARD:0017470,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0020555,GARD:0010294,Rare genetic disease +GARD:0010423,GARD:0022524,GARD:0020556,GARD:0010294,Rare neurologic disease +GARD:0010423,GARD:0022524,GARD:0018890,GARD:0017470,Rare neurologic disease +GARD:0010423,GARD:0022531,GARD:0020556,GARD:0009283,Rare genetic disease +GARD:0010423,GARD:0022531,GARD:0020556,GARD:0017230,Rare genetic disease +GARD:0010423,GARD:0022524,GARD:0018890,GARD:0017239,Rare neurologic disease +GARD:0010423,GARD:0022531,GARD:0018890,GARD:0017295,Rare genetic disease +GARD:0010423,GARD:0022524,GARD:0020555,GARD:0017470,Rare neurologic disease +GARD:0010423,GARD:0022524,GARD:0020555,GARD:0017230,Rare neurologic disease +GARD:0010423,GARD:0022531,GARD:0020555,GARD:0017239,Rare genetic disease +GARD:0010423,GARD:0022524,GARD:0018890,GARD:0017230,Rare neurologic disease +GARD:0010423,GARD:0022524,GARD:0020556,GARD:0017239,Rare neurologic disease +GARD:0010423,GARD:0022508,GARD:0018771,GARD:0017470,Rare inborn errors of metabolism +GARD:0010423,GARD:0022531,GARD:0020555,GARD:0009283,Rare genetic disease +GARD:0010424,GARD:0022524,GARD:0021988,,Rare neurologic disease +GARD:0010424,GARD:0022531,GARD:0021988,,Rare genetic disease +GARD:0010427,GARD:0022513,GARD:0000076,,Rare developmental defect during embryogenesis +GARD:0010427,GARD:0022526,GARD:0000076,,Rare odontologic disease +GARD:0010427,GARD:0022531,GARD:0000076,,Rare genetic disease +GARD:0010427,GARD:0022510,GARD:0000076,,Rare skin disease +GARD:0010427,GARD:0022520,GARD:0000076,,Rare ophthalmic disorder +GARD:0010428,GARD:0022524,GARD:0012959,,Rare neurologic disease +GARD:0010428,GARD:0022524,GARD:0021754,,Rare neurologic disease +GARD:0010429,GARD:0022511,GARD:0010903,,Rare bone disease +GARD:0010429,GARD:0022531,GARD:0021577,,Rare genetic disease +GARD:0010429,GARD:0022513,GARD:0010903,,Rare developmental defect during embryogenesis +GARD:0010429,GARD:0022531,GARD:0010903,,Rare genetic disease +GARD:0010430,GARD:0022531,GARD:0019569,GARD:0016008,Rare genetic disease +GARD:0010430,GARD:0022524,GARD:0019436,GARD:0016008,Rare neurologic disease +GARD:0010430,GARD:0022531,GARD:0019436,GARD:0016008,Rare genetic disease +GARD:0010430,GARD:0022531,GARD:0019574,GARD:0012900,Rare genetic disease +GARD:0010430,GARD:0022531,GARD:0020242,GARD:0016008,Rare genetic disease +GARD:0010430,GARD:0022531,GARD:0019574,GARD:0016008,Rare genetic disease +GARD:0010430,GARD:0022524,GARD:0019436,GARD:0012900,Rare neurologic disease +GARD:0010430,GARD:0022524,GARD:0022440,GARD:0016008,Rare neurologic disease +GARD:0010430,GARD:0022531,GARD:0019436,GARD:0012900,Rare genetic disease +GARD:0010430,GARD:0022531,GARD:0022440,GARD:0012900,Rare genetic disease +GARD:0010430,GARD:0022531,GARD:0022440,GARD:0016008,Rare genetic disease +GARD:0010430,GARD:0022524,GARD:0020242,GARD:0016008,Rare neurologic disease +GARD:0010430,GARD:0022524,GARD:0022440,GARD:0012900,Rare neurologic disease +GARD:0010430,GARD:0022531,GARD:0020242,GARD:0012900,Rare genetic disease +GARD:0010430,GARD:0022531,GARD:0019569,GARD:0012900,Rare genetic disease +GARD:0010430,GARD:0022524,GARD:0020242,GARD:0012900,Rare neurologic disease +GARD:0010432,GARD:0022515,GARD:0003284,,Rare cardiac disease +GARD:0010432,GARD:0022531,GARD:0003284,,Rare genetic disease +GARD:0010433,GARD:0022515,GARD:0003284,,Rare cardiac disease +GARD:0010433,GARD:0022531,GARD:0003284,,Rare genetic disease +GARD:0010434,GARD:0022515,GARD:0003284,,Rare cardiac disease +GARD:0010434,GARD:0022531,GARD:0003284,,Rare genetic disease +GARD:0010435,GARD:0022515,GARD:0003284,,Rare cardiac disease +GARD:0010435,GARD:0022531,GARD:0003284,,Rare genetic disease +GARD:0010436,GARD:0022515,GARD:0003284,,Rare cardiac disease +GARD:0010436,GARD:0022531,GARD:0003284,,Rare genetic disease +GARD:0010437,GARD:0022515,GARD:0003284,,Rare cardiac disease +GARD:0010437,GARD:0022531,GARD:0003284,,Rare genetic disease +GARD:0010443,GARD:0022524,GARD:0020571,,Rare neurologic disease +GARD:0010445,GARD:0022531,GARD:0018962,,Rare genetic disease +GARD:0010445,GARD:0022508,GARD:0018962,,Rare inborn errors of metabolism +GARD:0010453,GARD:0022531,GARD:0021284,,Rare genetic disease +GARD:0010453,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0010457,GARD:0022531,GARD:0018682,GARD:0016389,Rare genetic disease +GARD:0010457,GARD:0022531,GARD:0018682,GARD:0016388,Rare genetic disease +GARD:0010457,GARD:0022521,GARD:0018682,GARD:0016390,Rare endocrine disease +GARD:0010457,GARD:0022521,GARD:0018682,GARD:0016389,Rare endocrine disease +GARD:0010457,GARD:0022521,GARD:0018682,GARD:0016388,Rare endocrine disease +GARD:0010457,GARD:0022531,GARD:0018682,GARD:0016390,Rare genetic disease +GARD:0010460,GARD:0022534,GARD:0022534,,Rare abdominal surgical disease +GARD:0010460,GARD:0022535,GARD:0009364,,Rare neoplastic disease +GARD:0010460,GARD:0022516,GARD:0009364,,Rare gastroenterologic disease +GARD:0010467,GARD:0022522,GARD:0020675,,Rare hematologic disease +GARD:0010467,GARD:0022513,GARD:0009789,,Rare developmental defect during embryogenesis +GARD:0010467,GARD:0022527,GARD:0009789,,Rare circulatory system disease +GARD:0010469,GARD:0022531,GARD:0021285,,Rare genetic disease +GARD:0010469,GARD:0022524,GARD:0020029,,Rare neurologic disease +GARD:0010469,GARD:0022531,GARD:0020029,,Rare genetic disease +GARD:0010469,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0010469,GARD:0022524,GARD:0021267,,Rare neurologic disease +GARD:0010469,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0010471,GARD:0022531,GARD:0020431,,Rare genetic disease +GARD:0010471,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0010471,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0010472,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010472,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010472,GARD:0022524,GARD:0010761,,Rare neurologic disease +GARD:0010472,GARD:0022508,GARD:0010761,,Rare inborn errors of metabolism +GARD:0010472,GARD:0022531,GARD:0010761,,Rare genetic disease +GARD:0010474,GARD:0022531,GARD:0019254,,Rare genetic disease +GARD:0010474,GARD:0022524,GARD:0019254,,Rare neurologic disease +GARD:0010475,GARD:0022531,GARD:0019253,,Rare genetic disease +GARD:0010475,GARD:0022524,GARD:0019253,,Rare neurologic disease +GARD:0010476,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0010476,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0010477,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0010477,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0010480,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0010480,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0010484,GARD:0022531,GARD:0021284,,Rare genetic disease +GARD:0010484,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0010484,GARD:0022524,GARD:0021628,,Rare neurologic disease +GARD:0010484,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010484,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010484,GARD:0022531,GARD:0021628,,Rare genetic disease +GARD:0010486,GARD:0022531,GARD:0020012,,Rare genetic disease +GARD:0010486,GARD:0022535,GARD:0019406,,Rare neoplastic disease +GARD:0010486,GARD:0022524,GARD:0019406,,Rare neurologic disease +GARD:0010486,GARD:0022521,GARD:0019279,,Rare endocrine disease +GARD:0010486,GARD:0022521,GARD:0019146,,Rare endocrine disease +GARD:0010487,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0010487,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0010487,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0010488,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0010488,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0010488,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0010489,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0010489,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0010489,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0010490,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0010490,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0010490,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0010491,GARD:0022536,GARD:0008317,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010491,GARD:0022535,GARD:0008317,,Rare neoplastic disease +GARD:0010491,GARD:0022522,GARD:0008317,,Rare hematologic disease +GARD:0010493,GARD:0022535,GARD:0022073,,Rare neoplastic disease +GARD:0010493,GARD:0022522,GARD:0022073,,Rare hematologic disease +GARD:0010493,GARD:0022536,GARD:0022073,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010494,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0010496,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0010498,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0010499,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0010500,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0010501,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0010502,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0010502,GARD:0022524,GARD:0019478,,Rare neurologic disease +GARD:0010502,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0010502,GARD:0022531,GARD:0019478,,Rare genetic disease +GARD:0010504,GARD:0022513,GARD:0017268,,Rare developmental defect during embryogenesis +GARD:0010504,GARD:0022531,GARD:0017268,,Rare genetic disease +GARD:0010504,GARD:0022524,GARD:0017268,,Rare neurologic disease +GARD:0010505,GARD:0022520,GARD:0019496,GARD:0006465,Rare ophthalmic disorder +GARD:0010505,GARD:0022531,GARD:0019496,GARD:0016797,Rare genetic disease +GARD:0010505,GARD:0022531,GARD:0019496,GARD:0006465,Rare genetic disease +GARD:0010505,GARD:0022520,GARD:0019496,GARD:0016797,Rare ophthalmic disorder +GARD:0010505,GARD:0022513,GARD:0019496,GARD:0016797,Rare developmental defect during embryogenesis +GARD:0010505,GARD:0022513,GARD:0019496,GARD:0006465,Rare developmental defect during embryogenesis +GARD:0010506,GARD:0022513,GARD:0017268,GARD:0020949,Rare developmental defect during embryogenesis +GARD:0010506,GARD:0022531,GARD:0017268,GARD:0020949,Rare genetic disease +GARD:0010506,GARD:0022531,GARD:0017268,GARD:0020950,Rare genetic disease +GARD:0010506,GARD:0022524,GARD:0017268,GARD:0020950,Rare neurologic disease +GARD:0010506,GARD:0022524,GARD:0017268,GARD:0020949,Rare neurologic disease +GARD:0010506,GARD:0022513,GARD:0017268,GARD:0020950,Rare developmental defect during embryogenesis +GARD:0010508,GARD:0022513,GARD:0019145,GARD:0015348,Rare developmental defect during embryogenesis +GARD:0010508,GARD:0022531,GARD:0005893,GARD:0015348,Rare genetic disease +GARD:0010508,GARD:0022531,GARD:0019145,GARD:0015612,Rare genetic disease +GARD:0010508,GARD:0022528,GARD:0019145,GARD:0015348,Rare otorhinolaryngologic disease +GARD:0010508,GARD:0022512,GARD:0005893,GARD:0015348,Rare renal disease +GARD:0010508,GARD:0022536,GARD:0022061,GARD:0015612,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010508,GARD:0022531,GARD:0019145,GARD:0015348,Rare genetic disease +GARD:0010508,GARD:0022528,GARD:0019145,GARD:0015612,Rare otorhinolaryngologic disease +GARD:0010508,GARD:0022512,GARD:0005893,GARD:0015612,Rare renal disease +GARD:0010508,GARD:0022513,GARD:0019145,GARD:0015612,Rare developmental defect during embryogenesis +GARD:0010508,GARD:0022531,GARD:0005893,GARD:0015612,Rare genetic disease +GARD:0010508,GARD:0022536,GARD:0022061,GARD:0015348,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010509,GARD:0022510,GARD:0012602,,Rare skin disease +GARD:0010509,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0010509,GARD:0022521,GARD:0012602,,Rare endocrine disease +GARD:0010510,GARD:0022524,GARD:0021271,,Rare neurologic disease +GARD:0010510,GARD:0022524,GARD:0019484,,Rare neurologic disease +GARD:0010510,GARD:0022531,GARD:0021039,,Rare genetic disease +GARD:0010510,GARD:0022531,GARD:0022158,,Rare genetic disease +GARD:0010510,GARD:0022531,GARD:0021271,,Rare genetic disease +GARD:0010510,GARD:0022520,GARD:0022118,,Rare ophthalmic disorder +GARD:0010511,GARD:0022520,GARD:0016480,,Rare ophthalmic disorder +GARD:0010511,GARD:0022531,GARD:0016480,,Rare genetic disease +GARD:0010513,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0010513,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0010513,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0010513,GARD:0022531,GARD:0021576,,Rare genetic disease +GARD:0010514,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0010514,GARD:0022524,GARD:0020242,,Rare neurologic disease +GARD:0010514,GARD:0022531,GARD:0019571,,Rare genetic disease +GARD:0010514,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0010514,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0010514,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0010514,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0010514,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010514,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0010514,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010514,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0010514,GARD:0022531,GARD:0020242,,Rare genetic disease +GARD:0010515,GARD:0022531,GARD:0021812,,Rare genetic disease +GARD:0010515,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0010515,GARD:0022518,GARD:0019867,,Rare surgical thoracic disease +GARD:0010515,GARD:0022513,GARD:0019867,,Rare developmental defect during embryogenesis +GARD:0010515,GARD:0022513,GARD:0020002,,Rare developmental defect during embryogenesis +GARD:0010515,GARD:0022531,GARD:0019867,,Rare genetic disease +GARD:0010515,GARD:0022528,GARD:0020002,,Rare otorhinolaryngologic disease +GARD:0010516,GARD:0022531,GARD:0021161,,Rare genetic disease +GARD:0010516,GARD:0022513,GARD:0022020,,Rare developmental defect during embryogenesis +GARD:0010516,GARD:0022511,GARD:0022020,,Rare bone disease +GARD:0010516,GARD:0022523,GARD:0021161,,Rare immune disease +GARD:0010516,GARD:0021079,GARD:0021459,,Rare systemic or rheumatological disease of childhood +GARD:0010516,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0010516,GARD:0022525,GARD:0021454,,Rare systemic or rheumatologic disease +GARD:0010516,GARD:0022531,GARD:0022488,,Rare genetic disease +GARD:0010516,GARD:0022531,GARD:0022020,,Rare genetic disease +GARD:0010517,GARD:0022513,GARD:0005701,,Rare developmental defect during embryogenesis +GARD:0010517,GARD:0022534,GARD:0005701,,Rare abdominal surgical disease +GARD:0010517,GARD:0022536,GARD:0005701,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010517,GARD:0022520,GARD:0005701,,Rare ophthalmic disorder +GARD:0010517,GARD:0022531,GARD:0005701,,Rare genetic disease +GARD:0010517,GARD:0022521,GARD:0005701,,Rare endocrine disease +GARD:0010518,GARD:0022511,GARD:0010692,,Rare bone disease +GARD:0010518,GARD:0022528,GARD:0010692,,Rare otorhinolaryngologic disease +GARD:0010518,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010518,GARD:0022507,GARD:0010692,,Rare maxillo-facial surgical disease +GARD:0010518,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0010518,GARD:0022531,GARD:0010692,,Rare genetic disease +GARD:0010518,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0010518,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0010518,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0010518,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010518,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010518,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0010518,GARD:0022513,GARD:0010692,,Rare developmental defect during embryogenesis +GARD:0010520,GARD:0022531,GARD:0010692,,Rare genetic disease +GARD:0010520,GARD:0022513,GARD:0010692,,Rare developmental defect during embryogenesis +GARD:0010520,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0010520,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0010520,GARD:0022507,GARD:0010692,,Rare maxillo-facial surgical disease +GARD:0010520,GARD:0022511,GARD:0010692,,Rare bone disease +GARD:0010520,GARD:0022528,GARD:0010692,,Rare otorhinolaryngologic disease +GARD:0010522,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0010522,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0010522,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0010522,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010522,GARD:0022508,GARD:0018771,,Rare inborn errors of metabolism +GARD:0010522,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0010522,GARD:0022531,GARD:0018771,,Rare genetic disease +GARD:0010522,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010522,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0010522,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0010522,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0010523,GARD:0022536,GARD:0017048,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010523,GARD:0022531,GARD:0017048,,Rare genetic disease +GARD:0010523,GARD:0022523,GARD:0017048,,Rare immune disease +GARD:0010524,GARD:0022523,GARD:0017048,,Rare immune disease +GARD:0010524,GARD:0022536,GARD:0017048,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010524,GARD:0022531,GARD:0017048,,Rare genetic disease +GARD:0010525,GARD:0022513,GARD:0020834,,Rare developmental defect during embryogenesis +GARD:0010525,GARD:0022531,GARD:0020834,,Rare genetic disease +GARD:0010526,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0010526,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0010526,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0010526,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0010526,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0010526,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0010528,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0010528,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0010528,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0010528,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0010528,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0010529,GARD:0022524,GARD:0020363,GARD:0020440,Rare neurologic disease +GARD:0010529,GARD:0022531,GARD:0020363,GARD:0017096,Rare genetic disease +GARD:0010529,GARD:0022524,GARD:0020363,GARD:0017096,Rare neurologic disease +GARD:0010529,GARD:0022524,GARD:0020363,GARD:0019600,Rare neurologic disease +GARD:0010529,GARD:0022531,GARD:0020363,GARD:0021955,Rare genetic disease +GARD:0010529,GARD:0022524,GARD:0020363,GARD:0017062,Rare neurologic disease +GARD:0010529,GARD:0022531,GARD:0020363,GARD:0017912,Rare genetic disease +GARD:0010529,GARD:0022524,GARD:0020363,GARD:0001886,Rare neurologic disease +GARD:0010529,GARD:0022531,GARD:0020363,GARD:0019600,Rare genetic disease +GARD:0010529,GARD:0022524,GARD:0020363,GARD:0016870,Rare neurologic disease +GARD:0010529,GARD:0022531,GARD:0020363,GARD:0020440,Rare genetic disease +GARD:0010529,GARD:0022524,GARD:0020363,GARD:0021955,Rare neurologic disease +GARD:0010529,GARD:0022524,GARD:0020363,GARD:0021949,Rare neurologic disease +GARD:0010529,GARD:0022531,GARD:0020363,GARD:0001886,Rare genetic disease +GARD:0010529,GARD:0022524,GARD:0020363,GARD:0017912,Rare neurologic disease +GARD:0010529,GARD:0022531,GARD:0020363,GARD:0021949,Rare genetic disease +GARD:0010529,GARD:0022531,GARD:0020363,GARD:0017062,Rare genetic disease +GARD:0010529,GARD:0022531,GARD:0020363,GARD:0016870,Rare genetic disease +GARD:0010533,GARD:0022524,GARD:0021628,,Rare neurologic disease +GARD:0010533,GARD:0022531,GARD:0021284,,Rare genetic disease +GARD:0010533,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0010533,GARD:0022531,GARD:0021628,,Rare genetic disease +GARD:0010536,GARD:0022524,GARD:0018749,,Rare neurologic disease +GARD:0010536,GARD:0022531,GARD:0018749,,Rare genetic disease +GARD:0010537,GARD:0022531,GARD:0018749,,Rare genetic disease +GARD:0010537,GARD:0022524,GARD:0018749,,Rare neurologic disease +GARD:0010538,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0010538,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0010539,GARD:0022531,GARD:0021284,,Rare genetic disease +GARD:0010539,GARD:0022524,GARD:0021628,,Rare neurologic disease +GARD:0010539,GARD:0022531,GARD:0021628,,Rare genetic disease +GARD:0010539,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0010541,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010541,GARD:0022524,GARD:0018721,,Rare neurologic disease +GARD:0010541,GARD:0022531,GARD:0018721,,Rare genetic disease +GARD:0010541,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010544,GARD:0022535,GARD:0011984,,Rare neoplastic disease +GARD:0010544,GARD:0022531,GARD:0011984,,Rare genetic disease +GARD:0010544,GARD:0022521,GARD:0011984,,Rare endocrine disease +GARD:0010545,GARD:0022535,GARD:0011984,,Rare neoplastic disease +GARD:0010545,GARD:0022531,GARD:0011984,,Rare genetic disease +GARD:0010545,GARD:0022521,GARD:0011984,,Rare endocrine disease +GARD:0010546,GARD:0022531,GARD:0011984,,Rare genetic disease +GARD:0010546,GARD:0022535,GARD:0011984,,Rare neoplastic disease +GARD:0010546,GARD:0022521,GARD:0011984,,Rare endocrine disease +GARD:0010556,GARD:0022535,GARD:0020133,,Rare neoplastic disease +GARD:0010556,GARD:0022522,GARD:0020133,,Rare hematologic disease +GARD:0010556,GARD:0022536,GARD:0020133,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010557,GARD:0022513,GARD:0020891,,Rare developmental defect during embryogenesis +GARD:0010557,GARD:0022531,GARD:0020891,,Rare genetic disease +GARD:0010559,GARD:0022517,GARD:0020921,GARD:0020922,Rare respiratory disease +GARD:0010559,GARD:0022517,GARD:0020921,GARD:0016947,Rare respiratory disease +GARD:0010559,GARD:0022536,GARD:0020921,GARD:0020922,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010559,GARD:0022517,GARD:0020921,GARD:0020925,Rare respiratory disease +GARD:0010559,GARD:0022536,GARD:0020921,GARD:0016947,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010559,GARD:0022536,GARD:0020921,GARD:0020925,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010559,GARD:0022536,GARD:0020921,GARD:0020923,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010559,GARD:0022517,GARD:0020921,GARD:0020923,Rare respiratory disease +GARD:0010560,GARD:0022536,GARD:0018676,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010560,GARD:0022536,GARD:0022291,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010560,GARD:0022515,GARD:0020535,,Rare cardiac disease +GARD:0010560,GARD:0022512,GARD:0022291,,Rare renal disease +GARD:0010560,GARD:0022524,GARD:0020418,,Rare neurologic disease +GARD:0010560,GARD:0022525,GARD:0018676,,Rare systemic or rheumatologic disease +GARD:0010562,GARD:0022510,GARD:0000132,,Rare skin disease +GARD:0010570,GARD:0022507,GARD:0004436,,Rare maxillo-facial surgical disease +GARD:0010570,GARD:0022531,GARD:0004436,,Rare genetic disease +GARD:0010570,GARD:0022513,GARD:0004436,,Rare developmental defect during embryogenesis +GARD:0010570,GARD:0022510,GARD:0004436,,Rare skin disease +GARD:0010570,GARD:0022520,GARD:0004436,,Rare ophthalmic disorder +GARD:0010570,GARD:0022528,GARD:0004436,,Rare otorhinolaryngologic disease +GARD:0010572,GARD:0022531,GARD:0020088,,Rare genetic disease +GARD:0010572,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010572,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010572,GARD:0022524,GARD:0020088,,Rare neurologic disease +GARD:0010572,GARD:0022531,GARD:0020665,,Rare genetic disease +GARD:0010572,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0010572,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0010572,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010572,GARD:0022524,GARD:0020665,,Rare neurologic disease +GARD:0010573,GARD:0022511,GARD:0021572,,Rare bone disease +GARD:0010573,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010573,GARD:0022531,GARD:0021726,,Rare genetic disease +GARD:0010573,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010573,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010573,GARD:0022513,GARD:0021572,,Rare developmental defect during embryogenesis +GARD:0010574,GARD:0022531,GARD:0022099,,Rare genetic disease +GARD:0010574,GARD:0022520,GARD:0022099,,Rare ophthalmic disorder +GARD:0010578,GARD:0022523,GARD:0017085,,Rare immune disease +GARD:0010578,GARD:0022531,GARD:0017085,,Rare genetic disease +GARD:0010578,GARD:0022536,GARD:0017085,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010579,GARD:0022536,GARD:0017084,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010579,GARD:0022531,GARD:0017084,,Rare genetic disease +GARD:0010579,GARD:0022523,GARD:0017084,,Rare immune disease +GARD:0010580,GARD:0022531,GARD:0017085,,Rare genetic disease +GARD:0010580,GARD:0022536,GARD:0017085,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010580,GARD:0022523,GARD:0017085,,Rare immune disease +GARD:0010581,GARD:0022523,GARD:0017085,,Rare immune disease +GARD:0010581,GARD:0022531,GARD:0017085,,Rare genetic disease +GARD:0010581,GARD:0022536,GARD:0017085,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010582,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010582,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010582,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010583,GARD:0022531,GARD:0021111,,Rare genetic disease +GARD:0010583,GARD:0022510,GARD:0021111,,Rare skin disease +GARD:0010583,GARD:0022506,GARD:0021868,,Rare hepatic disease +GARD:0010583,GARD:0022531,GARD:0020006,,Rare genetic disease +GARD:0010583,GARD:0022536,GARD:0021868,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010584,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0010584,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0010584,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0010585,GARD:0022522,GARD:0009319,,Rare hematologic disease +GARD:0010585,GARD:0022535,GARD:0009319,,Rare neoplastic disease +GARD:0010585,GARD:0022536,GARD:0009319,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010586,GARD:0022531,GARD:0002249,,Rare genetic disease +GARD:0010586,GARD:0022531,GARD:0010788,,Rare genetic disease +GARD:0010586,GARD:0022511,GARD:0010788,,Rare bone disease +GARD:0010586,GARD:0022525,GARD:0010788,,Rare systemic or rheumatologic disease +GARD:0010586,GARD:0022525,GARD:0002249,,Rare systemic or rheumatologic disease +GARD:0010586,GARD:0022527,GARD:0010788,,Rare circulatory system disease +GARD:0010586,GARD:0022518,GARD:0002249,,Rare surgical thoracic disease +GARD:0010586,GARD:0022518,GARD:0010788,,Rare surgical thoracic disease +GARD:0010586,GARD:0022513,GARD:0010788,,Rare developmental defect during embryogenesis +GARD:0010586,GARD:0022527,GARD:0002249,,Rare circulatory system disease +GARD:0010587,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0010587,GARD:0022513,GARD:0020876,,Rare developmental defect during embryogenesis +GARD:0010587,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0010587,GARD:0022531,GARD:0022150,,Rare genetic disease +GARD:0010587,GARD:0022531,GARD:0020876,,Rare genetic disease +GARD:0010587,GARD:0022520,GARD:0022115,,Rare ophthalmic disorder +GARD:0010588,GARD:0022527,GARD:0002249,,Rare circulatory system disease +GARD:0010588,GARD:0022531,GARD:0002249,,Rare genetic disease +GARD:0010588,GARD:0022518,GARD:0002249,,Rare surgical thoracic disease +GARD:0010588,GARD:0022525,GARD:0002249,,Rare systemic or rheumatologic disease +GARD:0010590,GARD:0022531,GARD:0019100,,Rare genetic disease +GARD:0010590,GARD:0022511,GARD:0019100,,Rare bone disease +GARD:0010590,GARD:0022513,GARD:0019100,,Rare developmental defect during embryogenesis +GARD:0010591,GARD:0022513,GARD:0020872,,Rare developmental defect during embryogenesis +GARD:0010591,GARD:0022531,GARD:0020872,,Rare genetic disease +GARD:0010592,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010592,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010592,GARD:0022531,GARD:0020838,,Rare genetic disease +GARD:0010592,GARD:0022513,GARD:0020838,,Rare developmental defect during embryogenesis +GARD:0010592,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010593,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0010593,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0010593,GARD:0022531,GARD:0020005,,Rare genetic disease +GARD:0010593,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0010593,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0010593,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0010594,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0010594,GARD:0022508,GARD:0021131,,Rare inborn errors of metabolism +GARD:0010594,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0010594,GARD:0022524,GARD:0020559,,Rare neurologic disease +GARD:0010594,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0010594,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0010594,GARD:0022531,GARD:0020559,,Rare genetic disease +GARD:0010594,GARD:0022531,GARD:0021131,,Rare genetic disease +GARD:0010595,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0010595,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0010595,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0010595,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0010595,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0010595,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0010595,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0010595,GARD:0022531,GARD:0021810,,Rare genetic disease +GARD:0010595,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0010595,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0010595,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010595,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0010595,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010597,GARD:0022521,GARD:0005803,,Rare endocrine disease +GARD:0010597,GARD:0022514,GARD:0005803,,Rare gynecologic or obstetric disease +GARD:0010597,GARD:0022529,GARD:0005803,,Rare infertility +GARD:0010597,GARD:0022532,GARD:0005803,,Rare urogenital disease +GARD:0010597,GARD:0022531,GARD:0005803,,Rare genetic disease +GARD:0010597,GARD:0022513,GARD:0005803,,Rare developmental defect during embryogenesis +GARD:0010602,GARD:0022529,GARD:0020220,GARD:0015222,Rare infertility +GARD:0010602,GARD:0022521,GARD:0020220,GARD:0016519,Rare endocrine disease +GARD:0010602,GARD:0022531,GARD:0020220,GARD:0015222,Rare genetic disease +GARD:0010602,GARD:0022521,GARD:0020140,GARD:0016519,Rare endocrine disease +GARD:0010602,GARD:0022531,GARD:0020140,GARD:0016519,Rare genetic disease +GARD:0010602,GARD:0022531,GARD:0020220,GARD:0016520,Rare genetic disease +GARD:0010602,GARD:0022521,GARD:0020220,GARD:0015222,Rare endocrine disease +GARD:0010602,GARD:0022521,GARD:0020140,GARD:0016520,Rare endocrine disease +GARD:0010602,GARD:0022531,GARD:0020140,GARD:0016520,Rare genetic disease +GARD:0010602,GARD:0022514,GARD:0020220,GARD:0016520,Rare gynecologic or obstetric disease +GARD:0010602,GARD:0022514,GARD:0020220,GARD:0015222,Rare gynecologic or obstetric disease +GARD:0010602,GARD:0022529,GARD:0020220,GARD:0016519,Rare infertility +GARD:0010602,GARD:0022531,GARD:0020140,GARD:0015222,Rare genetic disease +GARD:0010602,GARD:0022521,GARD:0020220,GARD:0016520,Rare endocrine disease +GARD:0010602,GARD:0022514,GARD:0020220,GARD:0016519,Rare gynecologic or obstetric disease +GARD:0010602,GARD:0022521,GARD:0020140,GARD:0015222,Rare endocrine disease +GARD:0010602,GARD:0022529,GARD:0020220,GARD:0016520,Rare infertility +GARD:0010602,GARD:0022531,GARD:0020220,GARD:0016519,Rare genetic disease +GARD:0010603,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0010603,GARD:0022521,GARD:0019274,,Rare endocrine disease +GARD:0010603,GARD:0022531,GARD:0019274,,Rare genetic disease +GARD:0010603,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0010603,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0010604,GARD:0022521,GARD:0019274,,Rare endocrine disease +GARD:0010604,GARD:0022531,GARD:0019274,,Rare genetic disease +GARD:0010605,GARD:0022511,GARD:0019194,,Rare bone disease +GARD:0010605,GARD:0022513,GARD:0019194,,Rare developmental defect during embryogenesis +GARD:0010605,GARD:0022531,GARD:0019194,,Rare genetic disease +GARD:0010608,GARD:0022531,GARD:0019898,,Rare genetic disease +GARD:0010608,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010608,GARD:0022531,GARD:0019190,,Rare genetic disease +GARD:0010608,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010608,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0010608,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0010608,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0010608,GARD:0022513,GARD:0019898,,Rare developmental defect during embryogenesis +GARD:0010608,GARD:0022507,GARD:0019898,,Rare maxillo-facial surgical disease +GARD:0010608,GARD:0022528,GARD:0019898,,Rare otorhinolaryngologic disease +GARD:0010608,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010609,GARD:0022531,GARD:0003924,,Rare genetic disease +GARD:0010609,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010609,GARD:0022521,GARD:0003924,,Rare endocrine disease +GARD:0010609,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010611,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0010611,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0010611,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0010612,GARD:0022511,GARD:0016822,,Rare bone disease +GARD:0010612,GARD:0022513,GARD:0016822,,Rare developmental defect during embryogenesis +GARD:0010612,GARD:0022517,GARD:0020248,,Rare respiratory disease +GARD:0010612,GARD:0022531,GARD:0016822,,Rare genetic disease +GARD:0010614,GARD:0022529,GARD:0005758,,Rare infertility +GARD:0010614,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0010614,GARD:0022531,GARD:0005758,,Rare genetic disease +GARD:0010614,GARD:0022524,GARD:0005758,,Rare neurologic disease +GARD:0010614,GARD:0022508,GARD:0005758,,Rare inborn errors of metabolism +GARD:0010614,GARD:0022521,GARD:0005758,,Rare endocrine disease +GARD:0010614,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0010614,GARD:0022536,GARD:0005758,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010615,GARD:0022506,GARD:0006626,,Rare hepatic disease +GARD:0010615,GARD:0022510,GARD:0006626,,Rare skin disease +GARD:0010615,GARD:0022527,GARD:0006626,,Rare circulatory system disease +GARD:0010615,GARD:0022531,GARD:0006626,,Rare genetic disease +GARD:0010615,GARD:0022524,GARD:0006626,,Rare neurologic disease +GARD:0010615,GARD:0022525,GARD:0006626,,Rare systemic or rheumatologic disease +GARD:0010615,GARD:0022517,GARD:0006626,,Rare respiratory disease +GARD:0010615,GARD:0022513,GARD:0006626,,Rare developmental defect during embryogenesis +GARD:0010615,GARD:0022520,GARD:0006626,,Rare ophthalmic disorder +GARD:0010616,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0010616,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0010616,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0010617,GARD:0022513,GARD:0022082,,Rare developmental defect during embryogenesis +GARD:0010617,GARD:0022520,GARD:0022082,,Rare ophthalmic disorder +GARD:0010618,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0010618,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0010618,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0010619,GARD:0022511,GARD:0008696,,Rare bone disease +GARD:0010619,GARD:0022520,GARD:0008695,,Rare ophthalmic disorder +GARD:0010619,GARD:0022513,GARD:0008695,,Rare developmental defect during embryogenesis +GARD:0010619,GARD:0022526,GARD:0008695,,Rare odontologic disease +GARD:0010619,GARD:0022513,GARD:0010142,,Rare developmental defect during embryogenesis +GARD:0010619,GARD:0022520,GARD:0010142,,Rare ophthalmic disorder +GARD:0010619,GARD:0022513,GARD:0008696,,Rare developmental defect during embryogenesis +GARD:0010619,GARD:0022526,GARD:0008696,,Rare odontologic disease +GARD:0010619,GARD:0022511,GARD:0010142,,Rare bone disease +GARD:0010619,GARD:0022531,GARD:0008695,,Rare genetic disease +GARD:0010619,GARD:0022520,GARD:0008696,,Rare ophthalmic disorder +GARD:0010619,GARD:0022511,GARD:0008695,,Rare bone disease +GARD:0010619,GARD:0022531,GARD:0008696,,Rare genetic disease +GARD:0010619,GARD:0022531,GARD:0010142,,Rare genetic disease +GARD:0010620,GARD:0022511,GARD:0007687,GARD:0015411,Rare bone disease +GARD:0010620,GARD:0022531,GARD:0007687,GARD:0015411,Rare genetic disease +GARD:0010620,GARD:0022513,GARD:0007687,GARD:0015411,Rare developmental defect during embryogenesis +GARD:0010620,GARD:0022531,GARD:0007687,GARD:0015921,Rare genetic disease +GARD:0010620,GARD:0022511,GARD:0007687,GARD:0015921,Rare bone disease +GARD:0010620,GARD:0022513,GARD:0007687,GARD:0015921,Rare developmental defect during embryogenesis +GARD:0010623,GARD:0022511,GARD:0006118,,Rare bone disease +GARD:0010623,GARD:0022531,GARD:0006118,,Rare genetic disease +GARD:0010623,GARD:0022513,GARD:0006118,,Rare developmental defect during embryogenesis +GARD:0010623,GARD:0022526,GARD:0006118,,Rare odontologic disease +GARD:0010624,GARD:0022513,GARD:0007687,GARD:0004985,Rare developmental defect during embryogenesis +GARD:0010624,GARD:0022513,GARD:0007687,GARD:0015237,Rare developmental defect during embryogenesis +GARD:0010624,GARD:0022511,GARD:0007687,GARD:0015237,Rare bone disease +GARD:0010624,GARD:0022531,GARD:0007687,GARD:0004985,Rare genetic disease +GARD:0010624,GARD:0022531,GARD:0007687,GARD:0015237,Rare genetic disease +GARD:0010624,GARD:0022513,GARD:0007687,GARD:0015114,Rare developmental defect during embryogenesis +GARD:0010624,GARD:0022531,GARD:0007687,GARD:0015114,Rare genetic disease +GARD:0010624,GARD:0022511,GARD:0007687,GARD:0004985,Rare bone disease +GARD:0010624,GARD:0022511,GARD:0007687,GARD:0015114,Rare bone disease +GARD:0010625,GARD:0022531,GARD:0017050,,Rare genetic disease +GARD:0010625,GARD:0022523,GARD:0017050,,Rare immune disease +GARD:0010626,GARD:0022531,GARD:0017050,,Rare genetic disease +GARD:0010626,GARD:0022523,GARD:0017050,,Rare immune disease +GARD:0010627,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010627,GARD:0022531,GARD:0003924,,Rare genetic disease +GARD:0010627,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010627,GARD:0022521,GARD:0003924,,Rare endocrine disease +GARD:0010629,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0010629,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0010629,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0010630,GARD:0022516,GARD:0019845,,Rare gastroenterologic disease +GARD:0010630,GARD:0022536,GARD:0019845,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010630,GARD:0022516,GARD:0018918,,Rare gastroenterologic disease +GARD:0010630,GARD:0022531,GARD:0021546,,Rare genetic disease +GARD:0010630,GARD:0022536,GARD:0018918,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010630,GARD:0022531,GARD:0019845,,Rare genetic disease +GARD:0010631,GARD:0022524,GARD:0020706,,Rare neurologic disease +GARD:0010631,GARD:0022535,GARD:0020706,,Rare neoplastic disease +GARD:0010632,GARD:0022524,GARD:0020706,,Rare neurologic disease +GARD:0010632,GARD:0022535,GARD:0020706,,Rare neoplastic disease +GARD:0010633,GARD:0022524,GARD:0016527,,Rare neurologic disease +GARD:0010633,GARD:0022535,GARD:0016527,,Rare neoplastic disease +GARD:0010634,GARD:0022535,GARD:0016527,,Rare neoplastic disease +GARD:0010634,GARD:0022524,GARD:0016527,,Rare neurologic disease +GARD:0010635,GARD:0022524,GARD:0020713,,Rare neurologic disease +GARD:0010635,GARD:0022535,GARD:0020713,,Rare neoplastic disease +GARD:0010637,GARD:0022524,GARD:0020712,,Rare neurologic disease +GARD:0010637,GARD:0022535,GARD:0020712,,Rare neoplastic disease +GARD:0010638,GARD:0022535,GARD:0020728,,Rare neoplastic disease +GARD:0010638,GARD:0022524,GARD:0020728,,Rare neurologic disease +GARD:0010639,GARD:0022535,GARD:0020728,,Rare neoplastic disease +GARD:0010639,GARD:0022524,GARD:0020728,,Rare neurologic disease +GARD:0010640,GARD:0022535,GARD:0020728,,Rare neoplastic disease +GARD:0010640,GARD:0022524,GARD:0020728,,Rare neurologic disease +GARD:0010641,GARD:0022524,GARD:0020726,,Rare neurologic disease +GARD:0010641,GARD:0022535,GARD:0020726,,Rare neoplastic disease +GARD:0010642,GARD:0022535,GARD:0020726,,Rare neoplastic disease +GARD:0010642,GARD:0022524,GARD:0020726,,Rare neurologic disease +GARD:0010643,GARD:0022521,GARD:0019766,,Rare endocrine disease +GARD:0010643,GARD:0022531,GARD:0019766,,Rare genetic disease +GARD:0010643,GARD:0022535,GARD:0019766,,Rare neoplastic disease +GARD:0010644,GARD:0022524,GARD:0020724,,Rare neurologic disease +GARD:0010644,GARD:0022535,GARD:0020724,,Rare neoplastic disease +GARD:0010645,GARD:0022536,GARD:0013105,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010645,GARD:0022512,GARD:0013105,,Rare renal disease +GARD:0010645,GARD:0022531,GARD:0013105,,Rare genetic disease +GARD:0010645,GARD:0022513,GARD:0013105,,Rare developmental defect during embryogenesis +GARD:0010645,GARD:0022511,GARD:0013105,,Rare bone disease +GARD:0010645,GARD:0022521,GARD:0013105,,Rare endocrine disease +GARD:0010647,GARD:0022531,GARD:0018685,,Rare genetic disease +GARD:0010647,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0010647,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0010647,GARD:0022511,GARD:0018685,,Rare bone disease +GARD:0010647,GARD:0022513,GARD:0018685,,Rare developmental defect during embryogenesis +GARD:0010648,GARD:0022531,GARD:0015015,,Rare genetic disease +GARD:0010648,GARD:0022520,GARD:0015015,,Rare ophthalmic disorder +GARD:0010649,GARD:0022520,GARD:0022099,,Rare ophthalmic disorder +GARD:0010649,GARD:0022531,GARD:0022099,,Rare genetic disease +GARD:0010650,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0010650,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0010651,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0010651,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0010652,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0010652,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0010653,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0010653,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0010654,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0010654,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0010655,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0010655,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0010656,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0010656,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0010657,GARD:0022521,GARD:0003697,,Rare endocrine disease +GARD:0010657,GARD:0022531,GARD:0003697,,Rare genetic disease +GARD:0010658,GARD:0022521,GARD:0003697,,Rare endocrine disease +GARD:0010658,GARD:0022531,GARD:0003697,,Rare genetic disease +GARD:0010659,GARD:0022521,GARD:0003697,,Rare endocrine disease +GARD:0010659,GARD:0022531,GARD:0003697,,Rare genetic disease +GARD:0010660,GARD:0022531,GARD:0003697,,Rare genetic disease +GARD:0010660,GARD:0022521,GARD:0003697,,Rare endocrine disease +GARD:0010661,GARD:0022531,GARD:0003697,,Rare genetic disease +GARD:0010661,GARD:0022521,GARD:0003697,,Rare endocrine disease +GARD:0010662,GARD:0022531,GARD:0003697,,Rare genetic disease +GARD:0010662,GARD:0022521,GARD:0003697,,Rare endocrine disease +GARD:0010663,GARD:0022531,GARD:0003697,,Rare genetic disease +GARD:0010663,GARD:0022521,GARD:0003697,,Rare endocrine disease +GARD:0010664,GARD:0022524,GARD:0021754,,Rare neurologic disease +GARD:0010667,GARD:0022524,GARD:0018749,,Rare neurologic disease +GARD:0010667,GARD:0022531,GARD:0018749,,Rare genetic disease +GARD:0010670,GARD:0022508,GARD:0018884,GARD:0018975,Rare inborn errors of metabolism +GARD:0010670,GARD:0022531,GARD:0018884,GARD:0018975,Rare genetic disease +GARD:0010670,GARD:0022531,GARD:0018884,GARD:0018977,Rare genetic disease +GARD:0010670,GARD:0022508,GARD:0018884,GARD:0018977,Rare inborn errors of metabolism +GARD:0010675,GARD:0022510,GARD:0021113,,Rare skin disease +GARD:0010675,GARD:0022536,GARD:0008233,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010675,GARD:0022531,GARD:0021113,,Rare genetic disease +GARD:0010675,GARD:0022531,GARD:0008233,,Rare genetic disease +GARD:0010675,GARD:0022508,GARD:0008233,,Rare inborn errors of metabolism +GARD:0010679,GARD:0022531,GARD:0010801,,Rare genetic disease +GARD:0010679,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0010679,GARD:0022512,GARD:0010801,,Rare renal disease +GARD:0010679,GARD:0022536,GARD:0010801,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010680,GARD:0022513,GARD:0021900,,Rare developmental defect during embryogenesis +GARD:0010680,GARD:0022531,GARD:0021900,,Rare genetic disease +GARD:0010680,GARD:0022521,GARD:0021900,,Rare endocrine disease +GARD:0010680,GARD:0022512,GARD:0021900,,Rare renal disease +GARD:0010681,GARD:0022513,GARD:0005770,,Rare developmental defect during embryogenesis +GARD:0010681,GARD:0022531,GARD:0005770,,Rare genetic disease +GARD:0010681,GARD:0022521,GARD:0005770,,Rare endocrine disease +GARD:0010681,GARD:0022520,GARD:0005770,,Rare ophthalmic disorder +GARD:0010681,GARD:0022512,GARD:0005770,,Rare renal disease +GARD:0010681,GARD:0022510,GARD:0005770,,Rare skin disease +GARD:0010681,GARD:0022511,GARD:0005770,,Rare bone disease +GARD:0010682,GARD:0022512,GARD:0021900,,Rare renal disease +GARD:0010682,GARD:0022513,GARD:0021900,,Rare developmental defect during embryogenesis +GARD:0010682,GARD:0022531,GARD:0021900,,Rare genetic disease +GARD:0010682,GARD:0022521,GARD:0021900,,Rare endocrine disease +GARD:0010684,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0010684,GARD:0022524,GARD:0019477,,Rare neurologic disease +GARD:0010684,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0010686,GARD:0022531,GARD:0021355,,Rare genetic disease +GARD:0010686,GARD:0022531,GARD:0011899,,Rare genetic disease +GARD:0010686,GARD:0022508,GARD:0021355,,Rare inborn errors of metabolism +GARD:0010686,GARD:0022524,GARD:0020029,,Rare neurologic disease +GARD:0010686,GARD:0022531,GARD:0020029,,Rare genetic disease +GARD:0010686,GARD:0022524,GARD:0011899,,Rare neurologic disease +GARD:0010688,GARD:0022524,GARD:0003957,,Rare neurologic disease +GARD:0010688,GARD:0022531,GARD:0003957,,Rare genetic disease +GARD:0010688,GARD:0022508,GARD:0003957,,Rare inborn errors of metabolism +GARD:0010691,GARD:0022520,GARD:0006288,,Rare ophthalmic disorder +GARD:0010691,GARD:0022531,GARD:0006288,,Rare genetic disease +GARD:0010691,GARD:0022524,GARD:0006288,,Rare neurologic disease +GARD:0010691,GARD:0022513,GARD:0006288,,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019207,GARD:0004118,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022507,GARD:0019996,GARD:0000816,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022531,GARD:0020301,GARD:0010694,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0021188,GARD:0022069,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0019907,GARD:0004061,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0021188,GARD:0004118,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0021188,GARD:0013655,Rare genetic disease +GARD:0010692,GARD:0022507,GARD:0019996,GARD:0004060,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022531,GARD:0021188,GARD:0000816,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0019907,GARD:0004121,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0021188,GARD:0010693,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0021188,GARD:0010520,Rare genetic disease +GARD:0010692,GARD:0022507,GARD:0019996,GARD:0022069,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022531,GARD:0019998,GARD:0004118,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0019996,GARD:0004120,Rare genetic disease +GARD:0010692,GARD:0022511,GARD:0019207,GARD:0000816,Rare bone disease +GARD:0010692,GARD:0022513,GARD:0019996,GARD:0004061,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019207,GARD:0010520,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0020301,GARD:0010518,Rare genetic disease +GARD:0010692,GARD:0022511,GARD:0021188,GARD:0010518,Rare bone disease +GARD:0010692,GARD:0022531,GARD:0019998,GARD:0010694,Rare genetic disease +GARD:0010692,GARD:0022507,GARD:0019998,GARD:0022069,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022528,GARD:0019998,GARD:0004121,Rare otorhinolaryngologic disease +GARD:0010692,GARD:0022507,GARD:0019996,GARD:0004118,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022513,GARD:0019998,GARD:0004412,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022507,GARD:0019996,GARD:0004061,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022513,GARD:0019907,GARD:0010693,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019998,GARD:0010518,Rare genetic disease +GARD:0010692,GARD:0022507,GARD:0019998,GARD:0010520,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022531,GARD:0019996,GARD:0004412,Rare genetic disease +GARD:0010692,GARD:0022528,GARD:0019998,GARD:0004060,Rare otorhinolaryngologic disease +GARD:0010692,GARD:0022531,GARD:0019207,GARD:0010518,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0019996,GARD:0010693,Rare genetic disease +GARD:0010692,GARD:0022507,GARD:0019996,GARD:0010520,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022511,GARD:0019207,GARD:0003701,Rare bone disease +GARD:0010692,GARD:0022511,GARD:0019207,GARD:0004060,Rare bone disease +GARD:0010692,GARD:0022531,GARD:0019998,GARD:0010693,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0021188,GARD:0010518,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0019996,GARD:0004121,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0019207,GARD:0004121,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0021188,GARD:0004412,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022528,GARD:0019998,GARD:0010694,Rare otorhinolaryngologic disease +GARD:0010692,GARD:0022531,GARD:0019996,GARD:0000816,Rare genetic disease +GARD:0010692,GARD:0022528,GARD:0019998,GARD:0010520,Rare otorhinolaryngologic disease +GARD:0010692,GARD:0022511,GARD:0021188,GARD:0022069,Rare bone disease +GARD:0010692,GARD:0022531,GARD:0019207,GARD:0004412,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0020301,GARD:0004121,Rare genetic disease +GARD:0010692,GARD:0022507,GARD:0019998,GARD:0004061,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022531,GARD:0019998,GARD:0004412,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0019996,GARD:0004121,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019998,GARD:0004121,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0021188,GARD:0004121,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019207,GARD:0000816,Rare genetic disease +GARD:0010692,GARD:0022528,GARD:0019998,GARD:0010518,Rare otorhinolaryngologic disease +GARD:0010692,GARD:0022531,GARD:0019998,GARD:0004061,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0019907,GARD:0010694,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019998,GARD:0004060,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0020301,GARD:0004060,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0021188,GARD:0010518,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0021188,GARD:0004121,Rare genetic disease +GARD:0010692,GARD:0022511,GARD:0021188,GARD:0010520,Rare bone disease +GARD:0010692,GARD:0022513,GARD:0019998,GARD:0004120,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022507,GARD:0019996,GARD:0010693,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022507,GARD:0019998,GARD:0004120,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022528,GARD:0019998,GARD:0004120,Rare otorhinolaryngologic disease +GARD:0010692,GARD:0022507,GARD:0019998,GARD:0004060,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022511,GARD:0019207,GARD:0010518,Rare bone disease +GARD:0010692,GARD:0022513,GARD:0019996,GARD:0000816,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019207,GARD:0003701,Rare genetic disease +GARD:0010692,GARD:0022528,GARD:0019998,GARD:0010693,Rare otorhinolaryngologic disease +GARD:0010692,GARD:0022511,GARD:0021188,GARD:0013655,Rare bone disease +GARD:0010692,GARD:0022528,GARD:0019998,GARD:0013655,Rare otorhinolaryngologic disease +GARD:0010692,GARD:0022513,GARD:0019996,GARD:0003701,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019207,GARD:0010694,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0019998,GARD:0004061,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019996,GARD:0003701,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0020301,GARD:0010693,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0019907,GARD:0004120,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019996,GARD:0010694,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019998,GARD:0010520,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022511,GARD:0021188,GARD:0004061,Rare bone disease +GARD:0010692,GARD:0022513,GARD:0019907,GARD:0004060,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019996,GARD:0010520,Rare genetic disease +GARD:0010692,GARD:0022511,GARD:0021188,GARD:0004118,Rare bone disease +GARD:0010692,GARD:0022531,GARD:0020301,GARD:0013655,Rare genetic disease +GARD:0010692,GARD:0022511,GARD:0019207,GARD:0004061,Rare bone disease +GARD:0010692,GARD:0022513,GARD:0019998,GARD:0010694,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019207,GARD:0004412,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019996,GARD:0004120,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022507,GARD:0019998,GARD:0010693,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022511,GARD:0021188,GARD:0004060,Rare bone disease +GARD:0010692,GARD:0022531,GARD:0019207,GARD:0004060,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0019998,GARD:0022069,Rare genetic disease +GARD:0010692,GARD:0022511,GARD:0021188,GARD:0000816,Rare bone disease +GARD:0010692,GARD:0022511,GARD:0021188,GARD:0003701,Rare bone disease +GARD:0010692,GARD:0022513,GARD:0021188,GARD:0004120,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019998,GARD:0004121,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0019996,GARD:0010694,Rare genetic disease +GARD:0010692,GARD:0022528,GARD:0019998,GARD:0004118,Rare otorhinolaryngologic disease +GARD:0010692,GARD:0022507,GARD:0019996,GARD:0004121,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022513,GARD:0019207,GARD:0013655,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022507,GARD:0019996,GARD:0003701,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022531,GARD:0019207,GARD:0004120,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0021188,GARD:0004118,Rare genetic disease +GARD:0010692,GARD:0022511,GARD:0019207,GARD:0004121,Rare bone disease +GARD:0010692,GARD:0022531,GARD:0019996,GARD:0022069,Rare genetic disease +GARD:0010692,GARD:0022511,GARD:0019207,GARD:0013655,Rare bone disease +GARD:0010692,GARD:0022511,GARD:0021188,GARD:0004412,Rare bone disease +GARD:0010692,GARD:0022507,GARD:0019998,GARD:0000816,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022531,GARD:0019998,GARD:0003701,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0019996,GARD:0010518,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0021188,GARD:0004060,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022507,GARD:0019996,GARD:0010518,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022513,GARD:0019998,GARD:0010693,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019998,GARD:0022069,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019996,GARD:0004118,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019998,GARD:0010518,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019998,GARD:0013655,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0021188,GARD:0000816,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022507,GARD:0019998,GARD:0004412,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022513,GARD:0019207,GARD:0010693,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019996,GARD:0022069,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0020301,GARD:0000816,Rare genetic disease +GARD:0010692,GARD:0022511,GARD:0021188,GARD:0010693,Rare bone disease +GARD:0010692,GARD:0022513,GARD:0019907,GARD:0003701,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022511,GARD:0021188,GARD:0010694,Rare bone disease +GARD:0010692,GARD:0022513,GARD:0019998,GARD:0003701,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019996,GARD:0004118,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0019207,GARD:0004061,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019907,GARD:0010518,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019996,GARD:0004061,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0021188,GARD:0004060,Rare genetic disease +GARD:0010692,GARD:0022511,GARD:0021188,GARD:0004121,Rare bone disease +GARD:0010692,GARD:0022531,GARD:0019207,GARD:0022069,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0021188,GARD:0010693,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019207,GARD:0004121,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022511,GARD:0019207,GARD:0004118,Rare bone disease +GARD:0010692,GARD:0022528,GARD:0019998,GARD:0000816,Rare otorhinolaryngologic disease +GARD:0010692,GARD:0022507,GARD:0019998,GARD:0004121,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022513,GARD:0019996,GARD:0013655,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0020301,GARD:0010520,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0019996,GARD:0004060,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019907,GARD:0022069,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019996,GARD:0010518,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022507,GARD:0019998,GARD:0013655,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022531,GARD:0020301,GARD:0004120,Rare genetic disease +GARD:0010692,GARD:0022528,GARD:0019998,GARD:0022069,Rare otorhinolaryngologic disease +GARD:0010692,GARD:0022531,GARD:0019207,GARD:0010693,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0019907,GARD:0010520,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0021188,GARD:0004412,Rare genetic disease +GARD:0010692,GARD:0022507,GARD:0019996,GARD:0004120,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022507,GARD:0019996,GARD:0013655,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022531,GARD:0021188,GARD:0010694,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0021188,GARD:0010520,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0021188,GARD:0004061,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019996,GARD:0004412,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0021188,GARD:0010694,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022511,GARD:0019207,GARD:0010520,Rare bone disease +GARD:0010692,GARD:0022513,GARD:0021188,GARD:0003701,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0020301,GARD:0004412,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0021188,GARD:0004061,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0019207,GARD:0004060,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019207,GARD:0010694,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022511,GARD:0019207,GARD:0004412,Rare bone disease +GARD:0010692,GARD:0022513,GARD:0019998,GARD:0004118,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022507,GARD:0019998,GARD:0004118,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022511,GARD:0019207,GARD:0022069,Rare bone disease +GARD:0010692,GARD:0022513,GARD:0019207,GARD:0022069,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019907,GARD:0013655,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019207,GARD:0010518,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0021188,GARD:0003701,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0019207,GARD:0003701,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022511,GARD:0019207,GARD:0010693,Rare bone disease +GARD:0010692,GARD:0022528,GARD:0019998,GARD:0004412,Rare otorhinolaryngologic disease +GARD:0010692,GARD:0022528,GARD:0019998,GARD:0004061,Rare otorhinolaryngologic disease +GARD:0010692,GARD:0022531,GARD:0021188,GARD:0004120,Rare genetic disease +GARD:0010692,GARD:0022507,GARD:0019998,GARD:0010518,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022513,GARD:0021188,GARD:0013655,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019207,GARD:0004061,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0019207,GARD:0013655,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0020301,GARD:0003701,Rare genetic disease +GARD:0010692,GARD:0022511,GARD:0021188,GARD:0004120,Rare bone disease +GARD:0010692,GARD:0022513,GARD:0019998,GARD:0013655,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022507,GARD:0019998,GARD:0003701,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022513,GARD:0019907,GARD:0000816,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019998,GARD:0000816,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0021188,GARD:0022069,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0020301,GARD:0022069,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0019996,GARD:0004060,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0020301,GARD:0004118,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0019996,GARD:0010693,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019207,GARD:0004118,Rare genetic disease +GARD:0010692,GARD:0022507,GARD:0019996,GARD:0010694,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022528,GARD:0019998,GARD:0003701,Rare otorhinolaryngologic disease +GARD:0010692,GARD:0022507,GARD:0019998,GARD:0010694,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022513,GARD:0019907,GARD:0004412,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019907,GARD:0004118,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019998,GARD:0000816,Rare genetic disease +GARD:0010692,GARD:0022531,GARD:0020301,GARD:0004061,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0019996,GARD:0010520,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019998,GARD:0010520,Rare genetic disease +GARD:0010692,GARD:0022511,GARD:0019207,GARD:0004120,Rare bone disease +GARD:0010692,GARD:0022511,GARD:0019207,GARD:0010694,Rare bone disease +GARD:0010692,GARD:0022513,GARD:0019207,GARD:0010520,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019207,GARD:0004120,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022531,GARD:0019998,GARD:0004120,Rare genetic disease +GARD:0010692,GARD:0022507,GARD:0019996,GARD:0004412,Rare maxillo-facial surgical disease +GARD:0010692,GARD:0022531,GARD:0019996,GARD:0013655,Rare genetic disease +GARD:0010692,GARD:0022513,GARD:0019207,GARD:0000816,Rare developmental defect during embryogenesis +GARD:0010692,GARD:0022513,GARD:0019998,GARD:0004060,Rare developmental defect during embryogenesis +GARD:0010693,GARD:0022511,GARD:0010692,,Rare bone disease +GARD:0010693,GARD:0022528,GARD:0010692,,Rare otorhinolaryngologic disease +GARD:0010693,GARD:0022507,GARD:0010692,,Rare maxillo-facial surgical disease +GARD:0010693,GARD:0022531,GARD:0010692,,Rare genetic disease +GARD:0010693,GARD:0022513,GARD:0010692,,Rare developmental defect during embryogenesis +GARD:0010694,GARD:0022528,GARD:0010692,,Rare otorhinolaryngologic disease +GARD:0010694,GARD:0022513,GARD:0010692,,Rare developmental defect during embryogenesis +GARD:0010694,GARD:0022511,GARD:0010692,,Rare bone disease +GARD:0010694,GARD:0022531,GARD:0010692,,Rare genetic disease +GARD:0010694,GARD:0022507,GARD:0010692,,Rare maxillo-facial surgical disease +GARD:0010695,GARD:0022531,GARD:0015018,,Rare genetic disease +GARD:0010695,GARD:0022519,GARD:0015018,,Rare surgical cardiac disease +GARD:0010695,GARD:0022513,GARD:0015018,,Rare developmental defect during embryogenesis +GARD:0010696,GARD:0022513,GARD:0015018,,Rare developmental defect during embryogenesis +GARD:0010696,GARD:0022531,GARD:0015018,,Rare genetic disease +GARD:0010696,GARD:0022519,GARD:0015018,,Rare surgical cardiac disease +GARD:0010697,GARD:0022513,GARD:0015018,,Rare developmental defect during embryogenesis +GARD:0010697,GARD:0022519,GARD:0015018,,Rare surgical cardiac disease +GARD:0010697,GARD:0022531,GARD:0015018,,Rare genetic disease +GARD:0010698,GARD:0022513,GARD:0010955,,Rare developmental defect during embryogenesis +GARD:0010698,GARD:0022529,GARD:0010955,,Rare infertility +GARD:0010698,GARD:0022511,GARD:0010955,,Rare bone disease +GARD:0010698,GARD:0022536,GARD:0010955,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010698,GARD:0022521,GARD:0010955,,Rare endocrine disease +GARD:0010698,GARD:0022527,GARD:0010955,,Rare circulatory system disease +GARD:0010698,GARD:0022520,GARD:0010955,,Rare ophthalmic disorder +GARD:0010698,GARD:0022510,GARD:0010955,,Rare skin disease +GARD:0010698,GARD:0022512,GARD:0010955,,Rare renal disease +GARD:0010698,GARD:0022531,GARD:0010955,,Rare genetic disease +GARD:0010698,GARD:0022524,GARD:0010955,,Rare neurologic disease +GARD:0010698,GARD:0022515,GARD:0010955,,Rare cardiac disease +GARD:0010698,GARD:0022535,GARD:0010955,,Rare neoplastic disease +GARD:0010698,GARD:0022519,GARD:0010955,,Rare surgical cardiac disease +GARD:0010699,GARD:0022515,GARD:0010955,,Rare cardiac disease +GARD:0010699,GARD:0022511,GARD:0010955,,Rare bone disease +GARD:0010699,GARD:0022529,GARD:0010955,,Rare infertility +GARD:0010699,GARD:0022536,GARD:0010955,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010699,GARD:0022527,GARD:0010955,,Rare circulatory system disease +GARD:0010699,GARD:0022524,GARD:0010955,,Rare neurologic disease +GARD:0010699,GARD:0022519,GARD:0010955,,Rare surgical cardiac disease +GARD:0010699,GARD:0022510,GARD:0010955,,Rare skin disease +GARD:0010699,GARD:0022513,GARD:0010955,,Rare developmental defect during embryogenesis +GARD:0010699,GARD:0022512,GARD:0010955,,Rare renal disease +GARD:0010699,GARD:0022535,GARD:0010955,,Rare neoplastic disease +GARD:0010699,GARD:0022531,GARD:0010955,,Rare genetic disease +GARD:0010699,GARD:0022521,GARD:0010955,,Rare endocrine disease +GARD:0010699,GARD:0022520,GARD:0010955,,Rare ophthalmic disorder +GARD:0010700,GARD:0022524,GARD:0010955,,Rare neurologic disease +GARD:0010700,GARD:0022527,GARD:0010955,,Rare circulatory system disease +GARD:0010700,GARD:0022520,GARD:0010955,,Rare ophthalmic disorder +GARD:0010700,GARD:0022512,GARD:0010955,,Rare renal disease +GARD:0010700,GARD:0022510,GARD:0010955,,Rare skin disease +GARD:0010700,GARD:0022535,GARD:0010955,,Rare neoplastic disease +GARD:0010700,GARD:0022536,GARD:0010955,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010700,GARD:0022531,GARD:0010955,,Rare genetic disease +GARD:0010700,GARD:0022511,GARD:0010955,,Rare bone disease +GARD:0010700,GARD:0022529,GARD:0010955,,Rare infertility +GARD:0010700,GARD:0022513,GARD:0010955,,Rare developmental defect during embryogenesis +GARD:0010700,GARD:0022519,GARD:0010955,,Rare surgical cardiac disease +GARD:0010700,GARD:0022521,GARD:0010955,,Rare endocrine disease +GARD:0010700,GARD:0022515,GARD:0010955,,Rare cardiac disease +GARD:0010701,GARD:0022515,GARD:0010955,,Rare cardiac disease +GARD:0010701,GARD:0022521,GARD:0010955,,Rare endocrine disease +GARD:0010701,GARD:0022520,GARD:0010955,,Rare ophthalmic disorder +GARD:0010701,GARD:0022524,GARD:0010955,,Rare neurologic disease +GARD:0010701,GARD:0022512,GARD:0010955,,Rare renal disease +GARD:0010701,GARD:0022519,GARD:0010955,,Rare surgical cardiac disease +GARD:0010701,GARD:0022536,GARD:0010955,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010701,GARD:0022510,GARD:0010955,,Rare skin disease +GARD:0010701,GARD:0022513,GARD:0010955,,Rare developmental defect during embryogenesis +GARD:0010701,GARD:0022527,GARD:0010955,,Rare circulatory system disease +GARD:0010701,GARD:0022535,GARD:0010955,,Rare neoplastic disease +GARD:0010701,GARD:0022529,GARD:0010955,,Rare infertility +GARD:0010701,GARD:0022531,GARD:0010955,,Rare genetic disease +GARD:0010701,GARD:0022511,GARD:0010955,,Rare bone disease +GARD:0010704,GARD:0022531,GARD:0020381,GARD:0016289,Rare genetic disease +GARD:0010704,GARD:0022524,GARD:0020381,GARD:0015416,Rare neurologic disease +GARD:0010704,GARD:0022524,GARD:0020381,GARD:0016442,Rare neurologic disease +GARD:0010704,GARD:0022513,GARD:0010977,GARD:0015834,Rare developmental defect during embryogenesis +GARD:0010704,GARD:0022513,GARD:0010977,GARD:0016441,Rare developmental defect during embryogenesis +GARD:0010704,GARD:0022524,GARD:0020381,GARD:0016289,Rare neurologic disease +GARD:0010704,GARD:0022524,GARD:0020381,GARD:0016441,Rare neurologic disease +GARD:0010704,GARD:0022513,GARD:0010977,GARD:0016442,Rare developmental defect during embryogenesis +GARD:0010704,GARD:0022524,GARD:0010977,GARD:0016442,Rare neurologic disease +GARD:0010704,GARD:0022513,GARD:0010977,GARD:0016058,Rare developmental defect during embryogenesis +GARD:0010704,GARD:0022524,GARD:0020381,GARD:0015834,Rare neurologic disease +GARD:0010704,GARD:0022531,GARD:0020381,GARD:0016058,Rare genetic disease +GARD:0010704,GARD:0022524,GARD:0010977,GARD:0016289,Rare neurologic disease +GARD:0010704,GARD:0022531,GARD:0020381,GARD:0016441,Rare genetic disease +GARD:0010704,GARD:0022513,GARD:0010977,GARD:0015416,Rare developmental defect during embryogenesis +GARD:0010704,GARD:0022531,GARD:0010977,GARD:0016289,Rare genetic disease +GARD:0010704,GARD:0022531,GARD:0020381,GARD:0015416,Rare genetic disease +GARD:0010704,GARD:0022531,GARD:0010977,GARD:0016441,Rare genetic disease +GARD:0010704,GARD:0022524,GARD:0010977,GARD:0016441,Rare neurologic disease +GARD:0010704,GARD:0022513,GARD:0010977,GARD:0016289,Rare developmental defect during embryogenesis +GARD:0010704,GARD:0022531,GARD:0020381,GARD:0015834,Rare genetic disease +GARD:0010704,GARD:0022524,GARD:0010977,GARD:0015416,Rare neurologic disease +GARD:0010704,GARD:0022531,GARD:0010977,GARD:0016058,Rare genetic disease +GARD:0010704,GARD:0022524,GARD:0010977,GARD:0016058,Rare neurologic disease +GARD:0010704,GARD:0022524,GARD:0020381,GARD:0016058,Rare neurologic disease +GARD:0010704,GARD:0022531,GARD:0020381,GARD:0016442,Rare genetic disease +GARD:0010704,GARD:0022531,GARD:0010977,GARD:0015834,Rare genetic disease +GARD:0010704,GARD:0022531,GARD:0010977,GARD:0015416,Rare genetic disease +GARD:0010704,GARD:0022524,GARD:0010977,GARD:0015834,Rare neurologic disease +GARD:0010704,GARD:0022531,GARD:0010977,GARD:0016442,Rare genetic disease +GARD:0010705,GARD:0022531,GARD:0010977,GARD:0015244,Rare genetic disease +GARD:0010705,GARD:0022524,GARD:0010977,GARD:0015554,Rare neurologic disease +GARD:0010705,GARD:0022513,GARD:0010977,GARD:0015554,Rare developmental defect during embryogenesis +GARD:0010705,GARD:0022524,GARD:0020381,GARD:0015244,Rare neurologic disease +GARD:0010705,GARD:0022524,GARD:0010977,GARD:0015717,Rare neurologic disease +GARD:0010705,GARD:0022531,GARD:0010977,GARD:0015554,Rare genetic disease +GARD:0010705,GARD:0022524,GARD:0010977,GARD:0015244,Rare neurologic disease +GARD:0010705,GARD:0022513,GARD:0010977,GARD:0015717,Rare developmental defect during embryogenesis +GARD:0010705,GARD:0022524,GARD:0020381,GARD:0015553,Rare neurologic disease +GARD:0010705,GARD:0022524,GARD:0020381,GARD:0015554,Rare neurologic disease +GARD:0010705,GARD:0022531,GARD:0020381,GARD:0015553,Rare genetic disease +GARD:0010705,GARD:0022513,GARD:0010977,GARD:0015553,Rare developmental defect during embryogenesis +GARD:0010705,GARD:0022531,GARD:0020381,GARD:0016178,Rare genetic disease +GARD:0010705,GARD:0022513,GARD:0010977,GARD:0016178,Rare developmental defect during embryogenesis +GARD:0010705,GARD:0022531,GARD:0020381,GARD:0015554,Rare genetic disease +GARD:0010705,GARD:0022531,GARD:0010977,GARD:0015717,Rare genetic disease +GARD:0010705,GARD:0022531,GARD:0010977,GARD:0016178,Rare genetic disease +GARD:0010705,GARD:0022524,GARD:0020381,GARD:0016178,Rare neurologic disease +GARD:0010705,GARD:0022531,GARD:0020381,GARD:0015244,Rare genetic disease +GARD:0010705,GARD:0022513,GARD:0010977,GARD:0015244,Rare developmental defect during embryogenesis +GARD:0010705,GARD:0022524,GARD:0020381,GARD:0015717,Rare neurologic disease +GARD:0010705,GARD:0022531,GARD:0010977,GARD:0015553,Rare genetic disease +GARD:0010705,GARD:0022524,GARD:0010977,GARD:0016178,Rare neurologic disease +GARD:0010705,GARD:0022531,GARD:0020381,GARD:0015717,Rare genetic disease +GARD:0010705,GARD:0022524,GARD:0010977,GARD:0015553,Rare neurologic disease +GARD:0010706,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0010706,GARD:0022531,GARD:0021358,,Rare genetic disease +GARD:0010706,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0010706,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0010706,GARD:0022508,GARD:0021358,,Rare inborn errors of metabolism +GARD:0010706,GARD:0022531,GARD:0021284,,Rare genetic disease +GARD:0010707,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0010707,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0010707,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0010708,GARD:0022531,GARD:0010977,,Rare genetic disease +GARD:0010708,GARD:0022513,GARD:0010977,,Rare developmental defect during embryogenesis +GARD:0010708,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0010708,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0010708,GARD:0022524,GARD:0010977,,Rare neurologic disease +GARD:0010710,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0010710,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0010710,GARD:0022524,GARD:0010977,,Rare neurologic disease +GARD:0010710,GARD:0022513,GARD:0010977,,Rare developmental defect during embryogenesis +GARD:0010710,GARD:0022531,GARD:0010977,,Rare genetic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0017382,Rare neurologic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0006500,Rare genetic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0010034,Rare genetic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0017004,Rare neurologic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0013111,Rare neurologic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0013111,Rare genetic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0010034,Rare neurologic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0016609,Rare neurologic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0006034,Rare neurologic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0012684,Rare neurologic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0006034,Rare genetic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0003957,Rare neurologic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0017054,Rare genetic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0012688,Rare neurologic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0010000,Rare genetic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0012733,Rare genetic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0012860,Rare neurologic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0012683,Rare neurologic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0012860,Rare genetic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0003957,Rare genetic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0012688,Rare genetic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0017004,Rare genetic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0012684,Rare genetic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0012683,Rare genetic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0012733,Rare neurologic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0010000,Rare neurologic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0006500,Rare neurologic disease +GARD:0010711,GARD:0022524,GARD:0019476,GARD:0017054,Rare neurologic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0017382,Rare genetic disease +GARD:0010711,GARD:0022531,GARD:0018915,GARD:0016609,Rare genetic disease +GARD:0010713,GARD:0022524,GARD:0020243,,Rare neurologic disease +GARD:0010714,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0010714,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0010714,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0010714,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0010714,GARD:0022531,GARD:0022213,,Rare genetic disease +GARD:0010716,GARD:0022524,GARD:0022440,GARD:0016749,Rare neurologic disease +GARD:0010716,GARD:0022524,GARD:0022440,GARD:0017623,Rare neurologic disease +GARD:0010716,GARD:0022524,GARD:0022440,GARD:0017622,Rare neurologic disease +GARD:0010716,GARD:0022508,GARD:0018945,GARD:0017622,Rare inborn errors of metabolism +GARD:0010716,GARD:0022508,GARD:0018945,GARD:0016749,Rare inborn errors of metabolism +GARD:0010716,GARD:0022531,GARD:0022440,GARD:0016749,Rare genetic disease +GARD:0010716,GARD:0022531,GARD:0022440,GARD:0017623,Rare genetic disease +GARD:0010716,GARD:0022524,GARD:0018890,GARD:0017622,Rare neurologic disease +GARD:0010716,GARD:0022524,GARD:0018890,GARD:0016749,Rare neurologic disease +GARD:0010716,GARD:0022531,GARD:0022440,GARD:0017622,Rare genetic disease +GARD:0010716,GARD:0022531,GARD:0018945,GARD:0016749,Rare genetic disease +GARD:0010716,GARD:0022508,GARD:0018945,GARD:0017623,Rare inborn errors of metabolism +GARD:0010716,GARD:0022531,GARD:0018945,GARD:0017623,Rare genetic disease +GARD:0010716,GARD:0022531,GARD:0018890,GARD:0016749,Rare genetic disease +GARD:0010716,GARD:0022531,GARD:0018945,GARD:0017622,Rare genetic disease +GARD:0010716,GARD:0022531,GARD:0018890,GARD:0017622,Rare genetic disease +GARD:0010716,GARD:0022531,GARD:0018890,GARD:0017623,Rare genetic disease +GARD:0010716,GARD:0022524,GARD:0018890,GARD:0017623,Rare neurologic disease +GARD:0010719,GARD:0022531,GARD:0020523,,Rare genetic disease +GARD:0010719,GARD:0022536,GARD:0020523,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010719,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010719,GARD:0022531,GARD:0019561,,Rare genetic disease +GARD:0010719,GARD:0022513,GARD:0019506,,Rare developmental defect during embryogenesis +GARD:0010719,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010719,GARD:0022531,GARD:0021987,,Rare genetic disease +GARD:0010719,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010719,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0010719,GARD:0022515,GARD:0020523,,Rare cardiac disease +GARD:0010719,GARD:0022520,GARD:0019506,,Rare ophthalmic disorder +GARD:0010719,GARD:0022513,GARD:0019561,,Rare developmental defect during embryogenesis +GARD:0010719,GARD:0022531,GARD:0019506,,Rare genetic disease +GARD:0010719,GARD:0022519,GARD:0019561,,Rare surgical cardiac disease +GARD:0010726,GARD:0022513,GARD:0006798,,Rare developmental defect during embryogenesis +GARD:0010726,GARD:0022531,GARD:0006798,,Rare genetic disease +GARD:0010726,GARD:0022511,GARD:0006798,,Rare bone disease +GARD:0010726,GARD:0022508,GARD:0006798,,Rare inborn errors of metabolism +GARD:0010727,GARD:0022524,GARD:0019832,GARD:0017576,Rare neurologic disease +GARD:0010727,GARD:0022513,GARD:0019832,GARD:0021559,Rare developmental defect during embryogenesis +GARD:0010727,GARD:0022531,GARD:0019911,GARD:0021559,Rare genetic disease +GARD:0010727,GARD:0022513,GARD:0019832,GARD:0017576,Rare developmental defect during embryogenesis +GARD:0010727,GARD:0022531,GARD:0019911,GARD:0017576,Rare genetic disease +GARD:0010727,GARD:0022524,GARD:0019832,GARD:0021559,Rare neurologic disease +GARD:0010727,GARD:0022513,GARD:0019911,GARD:0017576,Rare developmental defect during embryogenesis +GARD:0010727,GARD:0022531,GARD:0022441,GARD:0017576,Rare genetic disease +GARD:0010727,GARD:0022531,GARD:0022441,GARD:0021559,Rare genetic disease +GARD:0010727,GARD:0022513,GARD:0019911,GARD:0021559,Rare developmental defect during embryogenesis +GARD:0010727,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0010728,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0010728,GARD:0022515,GARD:0020519,,Rare cardiac disease +GARD:0010728,GARD:0022536,GARD:0020519,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010728,GARD:0022531,GARD:0020519,,Rare genetic disease +GARD:0010728,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0010729,GARD:0022531,GARD:0021971,,Rare genetic disease +GARD:0010729,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0010729,GARD:0022521,GARD:0021971,,Rare endocrine disease +GARD:0010729,GARD:0022517,GARD:0022457,,Rare respiratory disease +GARD:0010729,GARD:0022536,GARD:0022457,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010729,GARD:0022508,GARD:0021971,,Rare inborn errors of metabolism +GARD:0010729,GARD:0022506,GARD:0022457,,Rare hepatic disease +GARD:0010729,GARD:0022508,GARD:0022457,,Rare inborn errors of metabolism +GARD:0010729,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0010729,GARD:0022531,GARD:0022457,,Rare genetic disease +GARD:0010730,GARD:0022531,GARD:0021352,,Rare genetic disease +GARD:0010730,GARD:0022508,GARD:0021352,,Rare inborn errors of metabolism +GARD:0010730,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010730,GARD:0022531,GARD:0018966,,Rare genetic disease +GARD:0010730,GARD:0022531,GARD:0020557,,Rare genetic disease +GARD:0010730,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0010730,GARD:0022524,GARD:0020557,,Rare neurologic disease +GARD:0010730,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010730,GARD:0022508,GARD:0018966,,Rare inborn errors of metabolism +GARD:0010730,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0010731,GARD:0022524,GARD:0020559,,Rare neurologic disease +GARD:0010731,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0010731,GARD:0022531,GARD:0010902,,Rare genetic disease +GARD:0010731,GARD:0022531,GARD:0020559,,Rare genetic disease +GARD:0010731,GARD:0022536,GARD:0020529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010731,GARD:0022524,GARD:0010902,,Rare neurologic disease +GARD:0010731,GARD:0022531,GARD:0020529,,Rare genetic disease +GARD:0010731,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0010731,GARD:0022531,GARD:0019457,,Rare genetic disease +GARD:0010731,GARD:0022522,GARD:0019457,,Rare hematologic disease +GARD:0010731,GARD:0022515,GARD:0020529,,Rare cardiac disease +GARD:0010732,GARD:0022524,GARD:0021960,,Rare neurologic disease +GARD:0010732,GARD:0022531,GARD:0021960,,Rare genetic disease +GARD:0010734,GARD:0022535,GARD:0008757,,Rare neoplastic disease +GARD:0010734,GARD:0022517,GARD:0008757,,Rare respiratory disease +GARD:0010738,GARD:0022512,GARD:0016530,,Rare renal disease +GARD:0010738,GARD:0022536,GARD:0016530,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010738,GARD:0022508,GARD:0016530,,Rare inborn errors of metabolism +GARD:0010738,GARD:0022531,GARD:0016530,,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0019490,GARD:0009447,Rare neurologic disease +GARD:0010739,GARD:0022524,GARD:0020240,GARD:0009447,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0020280,GARD:0009447,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0018890,GARD:0010973,Rare neurologic disease +GARD:0010739,GARD:0022524,GARD:0019490,GARD:0010973,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0018890,GARD:0004938,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0018890,GARD:0004938,Rare neurologic disease +GARD:0010739,GARD:0022524,GARD:0018890,GARD:0004010,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0019490,GARD:0017032,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0020550,GARD:0017031,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0020550,GARD:0017031,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0019490,GARD:0004938,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0019490,GARD:0004938,Rare genetic disease +GARD:0010739,GARD:0022508,GARD:0018884,GARD:0009447,Rare inborn errors of metabolism +GARD:0010739,GARD:0022524,GARD:0019490,GARD:0017032,Rare neurologic disease +GARD:0010739,GARD:0022524,GARD:0020550,GARD:0009447,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0018890,GARD:0017032,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0020240,GARD:0017427,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0020550,GARD:0010973,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0018890,GARD:0009447,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0020240,GARD:0017032,Rare neurologic disease +GARD:0010739,GARD:0022524,GARD:0020550,GARD:0010973,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0020550,GARD:0004938,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0019490,GARD:0004010,Rare neurologic disease +GARD:0010739,GARD:0022524,GARD:0018890,GARD:0017032,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0018884,GARD:0004938,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0020550,GARD:0017427,Rare neurologic disease +GARD:0010739,GARD:0022524,GARD:0020550,GARD:0017032,Rare neurologic disease +GARD:0010739,GARD:0022508,GARD:0018884,GARD:0004010,Rare inborn errors of metabolism +GARD:0010739,GARD:0022524,GARD:0018890,GARD:0017427,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0020550,GARD:0017032,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0018884,GARD:0004010,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0019490,GARD:0017031,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0019490,GARD:0009447,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0020550,GARD:0009447,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0018890,GARD:0017031,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0020280,GARD:0004938,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0018890,GARD:0017031,Rare neurologic disease +GARD:0010739,GARD:0022524,GARD:0018890,GARD:0009447,Rare neurologic disease +GARD:0010739,GARD:0022508,GARD:0018884,GARD:0017427,Rare inborn errors of metabolism +GARD:0010739,GARD:0022508,GARD:0018884,GARD:0017032,Rare inborn errors of metabolism +GARD:0010739,GARD:0022531,GARD:0018890,GARD:0017427,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0020550,GARD:0004938,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0019490,GARD:0004010,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0020280,GARD:0004010,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0020550,GARD:0004010,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0018884,GARD:0017427,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0019490,GARD:0017427,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0020550,GARD:0017427,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0020280,GARD:0010973,Rare genetic disease +GARD:0010739,GARD:0022508,GARD:0018884,GARD:0017031,Rare inborn errors of metabolism +GARD:0010739,GARD:0022524,GARD:0020240,GARD:0017031,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0020280,GARD:0017031,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0018884,GARD:0009447,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0018890,GARD:0004010,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0018884,GARD:0010973,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0018890,GARD:0010973,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0019490,GARD:0017427,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0018884,GARD:0017031,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0018884,GARD:0017032,Rare genetic disease +GARD:0010739,GARD:0022524,GARD:0020240,GARD:0010973,Rare neurologic disease +GARD:0010739,GARD:0022524,GARD:0020240,GARD:0004938,Rare neurologic disease +GARD:0010739,GARD:0022508,GARD:0018884,GARD:0010973,Rare inborn errors of metabolism +GARD:0010739,GARD:0022524,GARD:0020240,GARD:0004010,Rare neurologic disease +GARD:0010739,GARD:0022531,GARD:0020550,GARD:0004010,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0019490,GARD:0010973,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0020280,GARD:0017032,Rare genetic disease +GARD:0010739,GARD:0022508,GARD:0018884,GARD:0004938,Rare inborn errors of metabolism +GARD:0010739,GARD:0022531,GARD:0020280,GARD:0017427,Rare genetic disease +GARD:0010739,GARD:0022531,GARD:0019490,GARD:0017031,Rare genetic disease +GARD:0010740,GARD:0022513,GARD:0020816,,Rare developmental defect during embryogenesis +GARD:0010740,GARD:0022531,GARD:0020816,,Rare genetic disease +GARD:0010741,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0010741,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0010741,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0010744,GARD:0022520,GARD:0019795,,Rare ophthalmic disorder +GARD:0010744,GARD:0022535,GARD:0019795,,Rare neoplastic disease +GARD:0010752,GARD:0022510,GARD:0018992,GARD:0022387,Rare skin disease +GARD:0010752,GARD:0022510,GARD:0018992,GARD:0022386,Rare skin disease +GARD:0010752,GARD:0022531,GARD:0018992,GARD:0022387,Rare genetic disease +GARD:0010752,GARD:0022531,GARD:0018992,GARD:0022386,Rare genetic disease +GARD:0010753,GARD:0022531,GARD:0019001,GARD:0015219,Rare genetic disease +GARD:0010753,GARD:0022513,GARD:0019904,GARD:0015103,Rare developmental defect during embryogenesis +GARD:0010753,GARD:0022531,GARD:0019001,GARD:0016005,Rare genetic disease +GARD:0010753,GARD:0022513,GARD:0019904,GARD:0015102,Rare developmental defect during embryogenesis +GARD:0010753,GARD:0022510,GARD:0019449,GARD:0015102,Rare skin disease +GARD:0010753,GARD:0022510,GARD:0019001,GARD:0016006,Rare skin disease +GARD:0010753,GARD:0022513,GARD:0019904,GARD:0016005,Rare developmental defect during embryogenesis +GARD:0010753,GARD:0022510,GARD:0019001,GARD:0015103,Rare skin disease +GARD:0010753,GARD:0022531,GARD:0019904,GARD:0016005,Rare genetic disease +GARD:0010753,GARD:0022531,GARD:0019904,GARD:0015103,Rare genetic disease +GARD:0010753,GARD:0022510,GARD:0019449,GARD:0015219,Rare skin disease +GARD:0010753,GARD:0022531,GARD:0019449,GARD:0015103,Rare genetic disease +GARD:0010753,GARD:0022510,GARD:0019001,GARD:0015102,Rare skin disease +GARD:0010753,GARD:0022531,GARD:0019904,GARD:0016006,Rare genetic disease +GARD:0010753,GARD:0022531,GARD:0019904,GARD:0015102,Rare genetic disease +GARD:0010753,GARD:0022531,GARD:0019001,GARD:0015103,Rare genetic disease +GARD:0010753,GARD:0022531,GARD:0019904,GARD:0015219,Rare genetic disease +GARD:0010753,GARD:0022510,GARD:0019449,GARD:0016005,Rare skin disease +GARD:0010753,GARD:0022531,GARD:0019449,GARD:0015102,Rare genetic disease +GARD:0010753,GARD:0022510,GARD:0019001,GARD:0015219,Rare skin disease +GARD:0010753,GARD:0022513,GARD:0019904,GARD:0016006,Rare developmental defect during embryogenesis +GARD:0010753,GARD:0022510,GARD:0019449,GARD:0015103,Rare skin disease +GARD:0010753,GARD:0022531,GARD:0019449,GARD:0016005,Rare genetic disease +GARD:0010753,GARD:0022531,GARD:0019001,GARD:0015102,Rare genetic disease +GARD:0010753,GARD:0022510,GARD:0019449,GARD:0016006,Rare skin disease +GARD:0010753,GARD:0022513,GARD:0019904,GARD:0015219,Rare developmental defect during embryogenesis +GARD:0010753,GARD:0022510,GARD:0019001,GARD:0016005,Rare skin disease +GARD:0010753,GARD:0022531,GARD:0019001,GARD:0016006,Rare genetic disease +GARD:0010753,GARD:0022531,GARD:0019449,GARD:0015219,Rare genetic disease +GARD:0010753,GARD:0022531,GARD:0019449,GARD:0016006,Rare genetic disease +GARD:0010754,GARD:0022513,GARD:0007593,,Rare developmental defect during embryogenesis +GARD:0010754,GARD:0022512,GARD:0007593,,Rare renal disease +GARD:0010754,GARD:0022513,GARD:0020816,,Rare developmental defect during embryogenesis +GARD:0010754,GARD:0022524,GARD:0007593,,Rare neurologic disease +GARD:0010754,GARD:0022536,GARD:0007593,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010754,GARD:0022511,GARD:0007593,,Rare bone disease +GARD:0010754,GARD:0022531,GARD:0020816,,Rare genetic disease +GARD:0010754,GARD:0022521,GARD:0007593,,Rare endocrine disease +GARD:0010754,GARD:0022531,GARD:0007593,,Rare genetic disease +GARD:0010754,GARD:0022535,GARD:0007593,,Rare neoplastic disease +GARD:0010754,GARD:0022520,GARD:0007593,,Rare ophthalmic disorder +GARD:0010755,GARD:0022531,GARD:0020869,,Rare genetic disease +GARD:0010755,GARD:0022513,GARD:0020869,,Rare developmental defect during embryogenesis +GARD:0010756,GARD:0022531,GARD:0019191,GARD:0017014,Rare genetic disease +GARD:0010756,GARD:0022531,GARD:0019191,GARD:0009794,Rare genetic disease +GARD:0010756,GARD:0022531,GARD:0019191,GARD:0002180,Rare genetic disease +GARD:0010756,GARD:0022513,GARD:0019191,GARD:0017012,Rare developmental defect during embryogenesis +GARD:0010756,GARD:0022513,GARD:0019191,GARD:0017015,Rare developmental defect during embryogenesis +GARD:0010756,GARD:0022531,GARD:0019191,GARD:0009793,Rare genetic disease +GARD:0010756,GARD:0022511,GARD:0019191,GARD:0017013,Rare bone disease +GARD:0010756,GARD:0022511,GARD:0019191,GARD:0009794,Rare bone disease +GARD:0010756,GARD:0022513,GARD:0019191,GARD:0009794,Rare developmental defect during embryogenesis +GARD:0010756,GARD:0022531,GARD:0019191,GARD:0017015,Rare genetic disease +GARD:0010756,GARD:0022531,GARD:0019191,GARD:0017016,Rare genetic disease +GARD:0010756,GARD:0022511,GARD:0019191,GARD:0009793,Rare bone disease +GARD:0010756,GARD:0022513,GARD:0019191,GARD:0017013,Rare developmental defect during embryogenesis +GARD:0010756,GARD:0022513,GARD:0019191,GARD:0015024,Rare developmental defect during embryogenesis +GARD:0010756,GARD:0022511,GARD:0019191,GARD:0017015,Rare bone disease +GARD:0010756,GARD:0022513,GARD:0019191,GARD:0017016,Rare developmental defect during embryogenesis +GARD:0010756,GARD:0022531,GARD:0019191,GARD:0017013,Rare genetic disease +GARD:0010756,GARD:0022531,GARD:0019191,GARD:0017012,Rare genetic disease +GARD:0010756,GARD:0022513,GARD:0019191,GARD:0002180,Rare developmental defect during embryogenesis +GARD:0010756,GARD:0022511,GARD:0019191,GARD:0017016,Rare bone disease +GARD:0010756,GARD:0022531,GARD:0019191,GARD:0015024,Rare genetic disease +GARD:0010756,GARD:0022513,GARD:0019191,GARD:0017014,Rare developmental defect during embryogenesis +GARD:0010756,GARD:0022513,GARD:0019191,GARD:0009793,Rare developmental defect during embryogenesis +GARD:0010756,GARD:0022511,GARD:0019191,GARD:0015024,Rare bone disease +GARD:0010756,GARD:0022511,GARD:0019191,GARD:0017012,Rare bone disease +GARD:0010756,GARD:0022511,GARD:0019191,GARD:0017014,Rare bone disease +GARD:0010756,GARD:0022511,GARD:0019191,GARD:0002180,Rare bone disease +GARD:0010758,GARD:0022513,GARD:0019900,GARD:0021900,Rare developmental defect during embryogenesis +GARD:0010758,GARD:0022531,GARD:0020306,GARD:0005770,Rare genetic disease +GARD:0010758,GARD:0022531,GARD:0020306,GARD:0021900,Rare genetic disease +GARD:0010758,GARD:0022513,GARD:0019900,GARD:0005770,Rare developmental defect during embryogenesis +GARD:0010758,GARD:0022521,GARD:0020224,GARD:0021900,Rare endocrine disease +GARD:0010758,GARD:0022512,GARD:0019230,GARD:0005770,Rare renal disease +GARD:0010758,GARD:0022521,GARD:0020224,GARD:0005770,Rare endocrine disease +GARD:0010758,GARD:0022531,GARD:0019900,GARD:0021900,Rare genetic disease +GARD:0010758,GARD:0022512,GARD:0019230,GARD:0021900,Rare renal disease +GARD:0010758,GARD:0022531,GARD:0020407,GARD:0005770,Rare genetic disease +GARD:0010758,GARD:0022531,GARD:0019900,GARD:0005770,Rare genetic disease +GARD:0010758,GARD:0022531,GARD:0020407,GARD:0021900,Rare genetic disease +GARD:0010760,GARD:0022515,GARD:0020519,,Rare cardiac disease +GARD:0010760,GARD:0022508,GARD:0021309,,Rare inborn errors of metabolism +GARD:0010760,GARD:0022536,GARD:0020519,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010760,GARD:0022531,GARD:0020519,,Rare genetic disease +GARD:0010760,GARD:0022531,GARD:0021309,,Rare genetic disease +GARD:0010761,GARD:0022508,GARD:0018945,GARD:0010472,Rare inborn errors of metabolism +GARD:0010761,GARD:0022524,GARD:0020552,GARD:0017540,Rare neurologic disease +GARD:0010761,GARD:0022531,GARD:0018890,GARD:0017540,Rare genetic disease +GARD:0010761,GARD:0022524,GARD:0018890,GARD:0017540,Rare neurologic disease +GARD:0010761,GARD:0022524,GARD:0020552,GARD:0010472,Rare neurologic disease +GARD:0010761,GARD:0022531,GARD:0018945,GARD:0005661,Rare genetic disease +GARD:0010761,GARD:0022531,GARD:0018890,GARD:0010472,Rare genetic disease +GARD:0010761,GARD:0022524,GARD:0020552,GARD:0005661,Rare neurologic disease +GARD:0010761,GARD:0022508,GARD:0018945,GARD:0017540,Rare inborn errors of metabolism +GARD:0010761,GARD:0022531,GARD:0018945,GARD:0017540,Rare genetic disease +GARD:0010761,GARD:0022531,GARD:0020552,GARD:0017540,Rare genetic disease +GARD:0010761,GARD:0022531,GARD:0018945,GARD:0010472,Rare genetic disease +GARD:0010761,GARD:0022531,GARD:0020552,GARD:0010472,Rare genetic disease +GARD:0010761,GARD:0022508,GARD:0018945,GARD:0005661,Rare inborn errors of metabolism +GARD:0010761,GARD:0022531,GARD:0020552,GARD:0005661,Rare genetic disease +GARD:0010761,GARD:0022524,GARD:0018890,GARD:0010472,Rare neurologic disease +GARD:0010761,GARD:0022524,GARD:0018890,GARD:0005661,Rare neurologic disease +GARD:0010761,GARD:0022531,GARD:0018890,GARD:0005661,Rare genetic disease +GARD:0010762,GARD:0022531,GARD:0020628,,Rare genetic disease +GARD:0010762,GARD:0022527,GARD:0020628,,Rare circulatory system disease +GARD:0010763,GARD:0022524,GARD:0006288,,Rare neurologic disease +GARD:0010763,GARD:0022520,GARD:0006288,,Rare ophthalmic disorder +GARD:0010763,GARD:0022513,GARD:0006288,,Rare developmental defect during embryogenesis +GARD:0010763,GARD:0022531,GARD:0006288,,Rare genetic disease +GARD:0010764,GARD:0022508,GARD:0018953,,Rare inborn errors of metabolism +GARD:0010764,GARD:0022531,GARD:0018953,,Rare genetic disease +GARD:0010766,GARD:0022531,GARD:0018873,GARD:0015635,Rare genetic disease +GARD:0010766,GARD:0022522,GARD:0018873,GARD:0015635,Rare hematologic disease +GARD:0010766,GARD:0022522,GARD:0018873,GARD:0015633,Rare hematologic disease +GARD:0010766,GARD:0022531,GARD:0018873,GARD:0015633,Rare genetic disease +GARD:0010767,GARD:0022506,GARD:0021605,,Rare hepatic disease +GARD:0010767,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0010767,GARD:0022531,GARD:0021605,,Rare genetic disease +GARD:0010767,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0010767,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0010767,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0010768,GARD:0022531,GARD:0020076,GARD:0010974,Rare genetic disease +GARD:0010768,GARD:0022531,GARD:0019570,GARD:0010095,Rare genetic disease +GARD:0010768,GARD:0022531,GARD:0020281,GARD:0010974,Rare genetic disease +GARD:0010768,GARD:0022524,GARD:0018911,GARD:0010974,Rare neurologic disease +GARD:0010768,GARD:0022524,GARD:0020076,GARD:0002638,Rare neurologic disease +GARD:0010768,GARD:0022531,GARD:0019569,GARD:0010095,Rare genetic disease +GARD:0010768,GARD:0022524,GARD:0019387,GARD:0002638,Rare neurologic disease +GARD:0010768,GARD:0022524,GARD:0020076,GARD:0010095,Rare neurologic disease +GARD:0010768,GARD:0022531,GARD:0020076,GARD:0002638,Rare genetic disease +GARD:0010768,GARD:0022524,GARD:0020076,GARD:0010974,Rare neurologic disease +GARD:0010768,GARD:0022531,GARD:0020283,GARD:0010974,Rare genetic disease +GARD:0010768,GARD:0022531,GARD:0019569,GARD:0002638,Rare genetic disease +GARD:0010768,GARD:0022531,GARD:0020283,GARD:0010095,Rare genetic disease +GARD:0010768,GARD:0022531,GARD:0020076,GARD:0010095,Rare genetic disease +GARD:0010768,GARD:0022524,GARD:0018911,GARD:0010095,Rare neurologic disease +GARD:0010768,GARD:0022531,GARD:0019569,GARD:0010974,Rare genetic disease +GARD:0010768,GARD:0022531,GARD:0020281,GARD:0010095,Rare genetic disease +GARD:0010768,GARD:0022531,GARD:0020283,GARD:0002638,Rare genetic disease +GARD:0010768,GARD:0022531,GARD:0020281,GARD:0002638,Rare genetic disease +GARD:0010768,GARD:0022524,GARD:0019387,GARD:0010095,Rare neurologic disease +GARD:0010768,GARD:0022524,GARD:0019387,GARD:0010974,Rare neurologic disease +GARD:0010768,GARD:0022531,GARD:0019570,GARD:0002638,Rare genetic disease +GARD:0010768,GARD:0022524,GARD:0018911,GARD:0002638,Rare neurologic disease +GARD:0010768,GARD:0022531,GARD:0019570,GARD:0010974,Rare genetic disease +GARD:0010769,GARD:0022531,GARD:0020434,,Rare genetic disease +GARD:0010769,GARD:0022524,GARD:0020361,,Rare neurologic disease +GARD:0010769,GARD:0022531,GARD:0020361,,Rare genetic disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0015878,Rare endocrine disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0015857,Rare infertility +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0010772,Rare genetic disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0015851,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0015931,Rare infertility +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0015933,Rare infertility +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0003071,Rare genetic disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0015932,Rare endocrine disease +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0015933,Rare genetic disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0015849,Rare infertility +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0015929,Rare genetic disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0010773,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0003070,Rare infertility +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0016050,Rare infertility +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0010773,Rare endocrine disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0015931,Rare endocrine disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0010774,Rare infertility +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0015872,Rare endocrine disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0010773,Rare infertility +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0015851,Rare genetic disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0015850,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0003070,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0015928,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0015929,Rare infertility +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0010774,Rare genetic disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0015933,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0015849,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0010772,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0010774,Rare endocrine disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0016050,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0003070,Rare endocrine disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0010774,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0015850,Rare infertility +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0016387,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0016050,Rare endocrine disease +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0016387,Rare genetic disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0015929,Rare endocrine disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0015857,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0016387,Rare endocrine disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0015932,Rare infertility +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0015850,Rare endocrine disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0010772,Rare infertility +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0015878,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0015878,Rare genetic disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0015933,Rare endocrine disease +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0015928,Rare genetic disease +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0010773,Rare genetic disease +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0015931,Rare genetic disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0015857,Rare endocrine disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0015928,Rare infertility +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0003071,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0015931,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0003073,Rare infertility +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0003073,Rare endocrine disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0015872,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0003071,Rare endocrine disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0003073,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0015849,Rare endocrine disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0003071,Rare infertility +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0016050,Rare genetic disease +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0015849,Rare genetic disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0016387,Rare infertility +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0015878,Rare infertility +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0015857,Rare genetic disease +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0015932,Rare genetic disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0015932,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0003073,Rare genetic disease +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0015850,Rare genetic disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0015928,Rare endocrine disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0015851,Rare endocrine disease +GARD:0010771,GARD:0022514,GARD:0020643,GARD:0015929,Rare gynecologic or obstetric disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0015851,Rare infertility +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0003070,Rare genetic disease +GARD:0010771,GARD:0022521,GARD:0020643,GARD:0010772,Rare endocrine disease +GARD:0010771,GARD:0022531,GARD:0020643,GARD:0015872,Rare genetic disease +GARD:0010771,GARD:0022529,GARD:0020643,GARD:0015872,Rare infertility +GARD:0010772,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0010772,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0010772,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0010772,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0010772,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0010772,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0010772,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0010772,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0010773,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0010773,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0010773,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0010773,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0010773,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0010773,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0010773,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0010773,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0010774,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0010774,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0010774,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0010774,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0010774,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0010774,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0010774,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0010774,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0010775,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0010775,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010775,GARD:0022531,GARD:0022148,,Rare genetic disease +GARD:0010775,GARD:0022531,GARD:0020116,,Rare genetic disease +GARD:0010775,GARD:0022536,GARD:0022148,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010775,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0010775,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010775,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010775,GARD:0022536,GARD:0020116,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010775,GARD:0022516,GARD:0022148,,Rare gastroenterologic disease +GARD:0010775,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0010775,GARD:0022523,GARD:0020116,,Rare immune disease +GARD:0010777,GARD:0022535,GARD:0020101,,Rare neoplastic disease +GARD:0010777,GARD:0022534,GARD:0020101,,Rare abdominal surgical disease +GARD:0010777,GARD:0022536,GARD:0020101,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010778,GARD:0022531,GARD:0020321,,Rare genetic disease +GARD:0010778,GARD:0022523,GARD:0020321,,Rare immune disease +GARD:0010779,GARD:0022524,GARD:0020239,,Rare neurologic disease +GARD:0010780,GARD:0022517,GARD:0020932,,Rare respiratory disease +GARD:0010780,GARD:0022536,GARD:0020932,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010781,GARD:0022531,GARD:0022099,,Rare genetic disease +GARD:0010781,GARD:0022531,GARD:0022098,,Rare genetic disease +GARD:0010781,GARD:0022520,GARD:0022098,,Rare ophthalmic disorder +GARD:0010781,GARD:0022520,GARD:0022099,,Rare ophthalmic disorder +GARD:0010782,GARD:0022531,GARD:0019524,GARD:0005018,Rare genetic disease +GARD:0010782,GARD:0022520,GARD:0022109,GARD:0017203,Rare ophthalmic disorder +GARD:0010782,GARD:0022531,GARD:0022109,GARD:0005018,Rare genetic disease +GARD:0010782,GARD:0022520,GARD:0019524,GARD:0017203,Rare ophthalmic disorder +GARD:0010782,GARD:0022531,GARD:0019145,GARD:0005020,Rare genetic disease +GARD:0010782,GARD:0022511,GARD:0007687,GARD:0005020,Rare bone disease +GARD:0010782,GARD:0022528,GARD:0019145,GARD:0005020,Rare otorhinolaryngologic disease +GARD:0010782,GARD:0022531,GARD:0022108,GARD:0005020,Rare genetic disease +GARD:0010782,GARD:0022513,GARD:0019894,GARD:0005020,Rare developmental defect during embryogenesis +GARD:0010782,GARD:0022531,GARD:0022109,GARD:0017203,Rare genetic disease +GARD:0010782,GARD:0022528,GARD:0019894,GARD:0005020,Rare otorhinolaryngologic disease +GARD:0010782,GARD:0022520,GARD:0022108,GARD:0005020,Rare ophthalmic disorder +GARD:0010782,GARD:0022531,GARD:0019894,GARD:0017203,Rare genetic disease +GARD:0010782,GARD:0022531,GARD:0022108,GARD:0017203,Rare genetic disease +GARD:0010782,GARD:0022528,GARD:0019145,GARD:0017203,Rare otorhinolaryngologic disease +GARD:0010782,GARD:0022531,GARD:0019524,GARD:0017203,Rare genetic disease +GARD:0010782,GARD:0022531,GARD:0007687,GARD:0017203,Rare genetic disease +GARD:0010782,GARD:0022531,GARD:0019524,GARD:0005020,Rare genetic disease +GARD:0010782,GARD:0022520,GARD:0022108,GARD:0005018,Rare ophthalmic disorder +GARD:0010782,GARD:0022520,GARD:0022109,GARD:0005020,Rare ophthalmic disorder +GARD:0010782,GARD:0022520,GARD:0019524,GARD:0005018,Rare ophthalmic disorder +GARD:0010782,GARD:0022513,GARD:0019145,GARD:0005018,Rare developmental defect during embryogenesis +GARD:0010782,GARD:0022531,GARD:0019145,GARD:0017203,Rare genetic disease +GARD:0010782,GARD:0022513,GARD:0019894,GARD:0017203,Rare developmental defect during embryogenesis +GARD:0010782,GARD:0022531,GARD:0019894,GARD:0005018,Rare genetic disease +GARD:0010782,GARD:0022513,GARD:0007687,GARD:0017203,Rare developmental defect during embryogenesis +GARD:0010782,GARD:0022528,GARD:0019894,GARD:0017203,Rare otorhinolaryngologic disease +GARD:0010782,GARD:0022513,GARD:0019145,GARD:0017203,Rare developmental defect during embryogenesis +GARD:0010782,GARD:0022531,GARD:0022109,GARD:0005020,Rare genetic disease +GARD:0010782,GARD:0022531,GARD:0019894,GARD:0005020,Rare genetic disease +GARD:0010782,GARD:0022511,GARD:0007687,GARD:0005018,Rare bone disease +GARD:0010782,GARD:0022528,GARD:0019894,GARD:0005018,Rare otorhinolaryngologic disease +GARD:0010782,GARD:0022507,GARD:0019894,GARD:0005018,Rare maxillo-facial surgical disease +GARD:0010782,GARD:0022513,GARD:0007687,GARD:0005020,Rare developmental defect during embryogenesis +GARD:0010782,GARD:0022520,GARD:0019524,GARD:0005020,Rare ophthalmic disorder +GARD:0010782,GARD:0022531,GARD:0007687,GARD:0005018,Rare genetic disease +GARD:0010782,GARD:0022531,GARD:0019145,GARD:0005018,Rare genetic disease +GARD:0010782,GARD:0022513,GARD:0019145,GARD:0005020,Rare developmental defect during embryogenesis +GARD:0010782,GARD:0022513,GARD:0019894,GARD:0005018,Rare developmental defect during embryogenesis +GARD:0010782,GARD:0022507,GARD:0019894,GARD:0017203,Rare maxillo-facial surgical disease +GARD:0010782,GARD:0022513,GARD:0007687,GARD:0005018,Rare developmental defect during embryogenesis +GARD:0010782,GARD:0022520,GARD:0022108,GARD:0017203,Rare ophthalmic disorder +GARD:0010782,GARD:0022528,GARD:0019145,GARD:0005018,Rare otorhinolaryngologic disease +GARD:0010782,GARD:0022531,GARD:0007687,GARD:0005020,Rare genetic disease +GARD:0010782,GARD:0022511,GARD:0007687,GARD:0017203,Rare bone disease +GARD:0010782,GARD:0022531,GARD:0022108,GARD:0005018,Rare genetic disease +GARD:0010782,GARD:0022507,GARD:0019894,GARD:0005020,Rare maxillo-facial surgical disease +GARD:0010782,GARD:0022520,GARD:0022109,GARD:0005018,Rare ophthalmic disorder +GARD:0010783,GARD:0022524,GARD:0017269,,Rare neurologic disease +GARD:0010783,GARD:0022531,GARD:0017269,,Rare genetic disease +GARD:0010783,GARD:0022513,GARD:0017269,,Rare developmental defect during embryogenesis +GARD:0010784,GARD:0022524,GARD:0017269,,Rare neurologic disease +GARD:0010784,GARD:0022531,GARD:0017269,,Rare genetic disease +GARD:0010784,GARD:0022513,GARD:0017269,,Rare developmental defect during embryogenesis +GARD:0010785,GARD:0022524,GARD:0017269,,Rare neurologic disease +GARD:0010785,GARD:0022531,GARD:0017269,,Rare genetic disease +GARD:0010785,GARD:0022513,GARD:0017269,,Rare developmental defect during embryogenesis +GARD:0010786,GARD:0022524,GARD:0017269,,Rare neurologic disease +GARD:0010786,GARD:0022531,GARD:0017269,,Rare genetic disease +GARD:0010786,GARD:0022513,GARD:0017269,,Rare developmental defect during embryogenesis +GARD:0010788,GARD:0022525,GARD:0021129,GARD:0009458,Rare systemic or rheumatologic disease +GARD:0010788,GARD:0022525,GARD:0021129,GARD:0010586,Rare systemic or rheumatologic disease +GARD:0010788,GARD:0022518,GARD:0021130,GARD:0009458,Rare surgical thoracic disease +GARD:0010788,GARD:0022513,GARD:0022021,GARD:0009458,Rare developmental defect during embryogenesis +GARD:0010788,GARD:0022531,GARD:0021129,GARD:0009458,Rare genetic disease +GARD:0010788,GARD:0022531,GARD:0021130,GARD:0010586,Rare genetic disease +GARD:0010788,GARD:0022518,GARD:0021130,GARD:0010586,Rare surgical thoracic disease +GARD:0010788,GARD:0022531,GARD:0021130,GARD:0009458,Rare genetic disease +GARD:0010788,GARD:0022531,GARD:0022021,GARD:0009458,Rare genetic disease +GARD:0010788,GARD:0022531,GARD:0022021,GARD:0010586,Rare genetic disease +GARD:0010788,GARD:0022527,GARD:0021130,GARD:0010586,Rare circulatory system disease +GARD:0010788,GARD:0022511,GARD:0022021,GARD:0009458,Rare bone disease +GARD:0010788,GARD:0022513,GARD:0022021,GARD:0010586,Rare developmental defect during embryogenesis +GARD:0010788,GARD:0022527,GARD:0021130,GARD:0009458,Rare circulatory system disease +GARD:0010788,GARD:0022511,GARD:0022021,GARD:0010586,Rare bone disease +GARD:0010788,GARD:0022531,GARD:0021129,GARD:0010586,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0006145,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0010654,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0016125,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0015577,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0015426,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0010656,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0010652,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0015582,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0010655,Rare ophthalmic disorder +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0010653,Rare ophthalmic disorder +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0010652,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0010650,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0015356,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0015381,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0010656,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0015686,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0015577,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0016125,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0015812,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0015953,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0010655,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0015953,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0016364,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0015268,Rare ophthalmic disorder +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0010656,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0016036,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0015577,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0010651,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0015686,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0010653,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0015914,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0015484,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0015582,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0010650,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0015686,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0010654,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0010651,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0015484,Rare ophthalmic disorder +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0016036,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0016036,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0010653,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0015477,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0016036,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0015426,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0015812,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0015953,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0015381,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0015582,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0015356,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0015356,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0015686,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0016125,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0015477,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0010650,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0015381,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0015356,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0015484,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0015953,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0010652,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0010655,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0015426,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0016022,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0016364,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0016125,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0015477,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0010652,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0015484,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0015914,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0016022,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0015582,Rare ophthalmic disorder +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0010654,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0016022,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0010655,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0015812,Rare ophthalmic disorder +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0006145,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0010654,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0015477,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0015914,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0016364,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0015812,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0015268,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0010650,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0010656,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0015914,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0010651,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0006145,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0010651,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0010653,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0016364,Rare ophthalmic disorder +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0015426,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0015268,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019989,GARD:0015268,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0015381,Rare genetic disease +GARD:0010790,GARD:0022531,GARD:0022099,GARD:0006145,Rare genetic disease +GARD:0010790,GARD:0022520,GARD:0022099,GARD:0016022,Rare ophthalmic disorder +GARD:0010790,GARD:0022531,GARD:0019990,GARD:0015577,Rare genetic disease +GARD:0010791,GARD:0022524,GARD:0008541,,Rare neurologic disease +GARD:0010792,GARD:0022524,GARD:0008541,,Rare neurologic disease +GARD:0010792,GARD:0022531,GARD:0008436,,Rare genetic disease +GARD:0010792,GARD:0022524,GARD:0008436,,Rare neurologic disease +GARD:0010793,GARD:0022524,GARD:0021268,,Rare neurologic disease +GARD:0010793,GARD:0022524,GARD:0008436,,Rare neurologic disease +GARD:0010793,GARD:0022531,GARD:0008436,,Rare genetic disease +GARD:0010793,GARD:0022531,GARD:0021268,,Rare genetic disease +GARD:0010793,GARD:0022524,GARD:0008541,,Rare neurologic disease +GARD:0010794,GARD:0022524,GARD:0020017,,Rare neurologic disease +GARD:0010795,GARD:0022524,GARD:0020017,,Rare neurologic disease +GARD:0010796,GARD:0022524,GARD:0019387,,Rare neurologic disease +GARD:0010801,GARD:0022536,GARD:0022061,GARD:0013461,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010801,GARD:0022512,GARD:0019228,GARD:0010221,Rare renal disease +GARD:0010801,GARD:0022531,GARD:0019228,GARD:0013461,Rare genetic disease +GARD:0010801,GARD:0022531,GARD:0019228,GARD:0010679,Rare genetic disease +GARD:0010801,GARD:0022531,GARD:0020306,GARD:0013461,Rare genetic disease +GARD:0010801,GARD:0022512,GARD:0019228,GARD:0013461,Rare renal disease +GARD:0010801,GARD:0022536,GARD:0022061,GARD:0010679,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010801,GARD:0022531,GARD:0019228,GARD:0007002,Rare genetic disease +GARD:0010801,GARD:0022512,GARD:0019228,GARD:0007002,Rare renal disease +GARD:0010801,GARD:0022536,GARD:0022061,GARD:0007002,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010801,GARD:0022512,GARD:0019228,GARD:0010679,Rare renal disease +GARD:0010801,GARD:0022531,GARD:0019228,GARD:0010221,Rare genetic disease +GARD:0010801,GARD:0022531,GARD:0020306,GARD:0010679,Rare genetic disease +GARD:0010801,GARD:0022531,GARD:0020306,GARD:0010221,Rare genetic disease +GARD:0010801,GARD:0022531,GARD:0020306,GARD:0007002,Rare genetic disease +GARD:0010801,GARD:0022536,GARD:0022061,GARD:0010221,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010803,GARD:0022520,GARD:0021106,GARD:0015393,Rare ophthalmic disorder +GARD:0010803,GARD:0022531,GARD:0021106,GARD:0015547,Rare genetic disease +GARD:0010803,GARD:0022510,GARD:0021106,GARD:0003170,Rare skin disease +GARD:0010803,GARD:0022510,GARD:0021106,GARD:0009733,Rare skin disease +GARD:0010803,GARD:0022510,GARD:0021106,GARD:0016457,Rare skin disease +GARD:0010803,GARD:0022520,GARD:0021106,GARD:0009733,Rare ophthalmic disorder +GARD:0010803,GARD:0022531,GARD:0021106,GARD:0015393,Rare genetic disease +GARD:0010803,GARD:0022531,GARD:0021106,GARD:0016457,Rare genetic disease +GARD:0010803,GARD:0022513,GARD:0021106,GARD:0015393,Rare developmental defect during embryogenesis +GARD:0010803,GARD:0022520,GARD:0021106,GARD:0016471,Rare ophthalmic disorder +GARD:0010803,GARD:0022510,GARD:0021106,GARD:0015547,Rare skin disease +GARD:0010803,GARD:0022531,GARD:0021106,GARD:0003170,Rare genetic disease +GARD:0010803,GARD:0022513,GARD:0021106,GARD:0009734,Rare developmental defect during embryogenesis +GARD:0010803,GARD:0022531,GARD:0021106,GARD:0009733,Rare genetic disease +GARD:0010803,GARD:0022531,GARD:0021106,GARD:0009734,Rare genetic disease +GARD:0010803,GARD:0022510,GARD:0021106,GARD:0015393,Rare skin disease +GARD:0010803,GARD:0022520,GARD:0021106,GARD:0015547,Rare ophthalmic disorder +GARD:0010803,GARD:0022520,GARD:0021106,GARD:0016457,Rare ophthalmic disorder +GARD:0010803,GARD:0022510,GARD:0021106,GARD:0016471,Rare skin disease +GARD:0010803,GARD:0022513,GARD:0021106,GARD:0016471,Rare developmental defect during embryogenesis +GARD:0010803,GARD:0022520,GARD:0021106,GARD:0009734,Rare ophthalmic disorder +GARD:0010803,GARD:0022520,GARD:0021106,GARD:0003170,Rare ophthalmic disorder +GARD:0010803,GARD:0022513,GARD:0021106,GARD:0015547,Rare developmental defect during embryogenesis +GARD:0010803,GARD:0022513,GARD:0021106,GARD:0003170,Rare developmental defect during embryogenesis +GARD:0010803,GARD:0022513,GARD:0021106,GARD:0009733,Rare developmental defect during embryogenesis +GARD:0010803,GARD:0022510,GARD:0021106,GARD:0009734,Rare skin disease +GARD:0010803,GARD:0022513,GARD:0021106,GARD:0016457,Rare developmental defect during embryogenesis +GARD:0010803,GARD:0022531,GARD:0021106,GARD:0016471,Rare genetic disease +GARD:0010804,GARD:0022514,GARD:0012772,,Rare gynecologic or obstetric disease +GARD:0010804,GARD:0022535,GARD:0012772,,Rare neoplastic disease +GARD:0010805,GARD:0022536,GARD:0008532,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010805,GARD:0022516,GARD:0008532,,Rare gastroenterologic disease +GARD:0010805,GARD:0022531,GARD:0008532,,Rare genetic disease +GARD:0010805,GARD:0022535,GARD:0008532,,Rare neoplastic disease +GARD:0010806,GARD:0022531,GARD:0016584,,Rare genetic disease +GARD:0010806,GARD:0022524,GARD:0016584,,Rare neurologic disease +GARD:0010808,GARD:0022521,GARD:0021849,,Rare endocrine disease +GARD:0010809,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0010810,GARD:0022531,GARD:0011899,,Rare genetic disease +GARD:0010810,GARD:0022508,GARD:0021517,,Rare inborn errors of metabolism +GARD:0010810,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0010810,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0010810,GARD:0022531,GARD:0021517,,Rare genetic disease +GARD:0010810,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0010810,GARD:0022524,GARD:0011899,,Rare neurologic disease +GARD:0010810,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0010813,GARD:0022513,GARD:0020821,,Rare developmental defect during embryogenesis +GARD:0010813,GARD:0022531,GARD:0020821,,Rare genetic disease +GARD:0010814,GARD:0022524,GARD:0020374,GARD:0015637,Rare neurologic disease +GARD:0010814,GARD:0022524,GARD:0020374,GARD:0015119,Rare neurologic disease +GARD:0010814,GARD:0022524,GARD:0020374,GARD:0015848,Rare neurologic disease +GARD:0010816,GARD:0022510,GARD:0020744,,Rare skin disease +GARD:0010817,GARD:0022524,GARD:0021430,,Rare neurologic disease +GARD:0010817,GARD:0022531,GARD:0021430,,Rare genetic disease +GARD:0010818,GARD:0022508,GARD:0018947,,Rare inborn errors of metabolism +GARD:0010818,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0010818,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0010818,GARD:0022531,GARD:0018947,,Rare genetic disease +GARD:0010821,GARD:0022509,GARD:0019433,,Rare infectious disease +GARD:0010821,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0010821,GARD:0022524,GARD:0019433,,Rare neurologic disease +GARD:0010822,GARD:0022527,GARD:0022014,,Rare circulatory system disease +GARD:0010823,GARD:0022531,GARD:0020169,,Rare genetic disease +GARD:0010823,GARD:0022521,GARD:0020169,,Rare endocrine disease +GARD:0010824,GARD:0022521,GARD:0006224,GARD:0016034,Rare endocrine disease +GARD:0010824,GARD:0022531,GARD:0021687,GARD:0016034,Rare genetic disease +GARD:0010824,GARD:0022531,GARD:0020316,GARD:0016034,Rare genetic disease +GARD:0010824,GARD:0022529,GARD:0021671,GARD:0016034,Rare infertility +GARD:0010828,GARD:0022511,GARD:0019202,GARD:0009758,Rare bone disease +GARD:0010828,GARD:0022513,GARD:0019202,GARD:0002878,Rare developmental defect during embryogenesis +GARD:0010828,GARD:0022531,GARD:0020315,GARD:0002878,Rare genetic disease +GARD:0010828,GARD:0022536,GARD:0020930,GARD:0009758,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010828,GARD:0022531,GARD:0019202,GARD:0002878,Rare genetic disease +GARD:0010828,GARD:0022511,GARD:0019202,GARD:0002878,Rare bone disease +GARD:0010828,GARD:0022513,GARD:0019202,GARD:0009758,Rare developmental defect during embryogenesis +GARD:0010828,GARD:0022531,GARD:0020315,GARD:0002796,Rare genetic disease +GARD:0010828,GARD:0022531,GARD:0019202,GARD:0002796,Rare genetic disease +GARD:0010828,GARD:0022517,GARD:0020930,GARD:0002878,Rare respiratory disease +GARD:0010828,GARD:0022521,GARD:0018893,GARD:0002878,Rare endocrine disease +GARD:0010828,GARD:0022521,GARD:0018893,GARD:0009758,Rare endocrine disease +GARD:0010828,GARD:0022536,GARD:0020930,GARD:0002796,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010828,GARD:0022517,GARD:0020930,GARD:0009758,Rare respiratory disease +GARD:0010828,GARD:0022531,GARD:0019202,GARD:0009758,Rare genetic disease +GARD:0010828,GARD:0022511,GARD:0019202,GARD:0002796,Rare bone disease +GARD:0010828,GARD:0022513,GARD:0019202,GARD:0002796,Rare developmental defect during embryogenesis +GARD:0010828,GARD:0022517,GARD:0020930,GARD:0002796,Rare respiratory disease +GARD:0010828,GARD:0022531,GARD:0020315,GARD:0009758,Rare genetic disease +GARD:0010828,GARD:0022521,GARD:0018893,GARD:0002796,Rare endocrine disease +GARD:0010828,GARD:0022536,GARD:0020930,GARD:0002878,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010829,GARD:0022531,GARD:0021420,,Rare genetic disease +GARD:0010829,GARD:0022535,GARD:0021420,,Rare neoplastic disease +GARD:0010829,GARD:0022521,GARD:0002837,,Rare endocrine disease +GARD:0010829,GARD:0022512,GARD:0021420,,Rare renal disease +GARD:0010829,GARD:0022535,GARD:0002837,,Rare neoplastic disease +GARD:0010829,GARD:0022531,GARD:0002837,,Rare genetic disease +GARD:0010830,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0010830,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0010837,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0010837,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0010839,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0010839,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0010841,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0010841,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0010846,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0010846,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0010855,GARD:0022531,GARD:0021542,,Rare genetic disease +GARD:0010855,GARD:0022513,GARD:0021542,,Rare developmental defect during embryogenesis +GARD:0010860,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0010860,GARD:0022513,GARD:0019421,,Rare developmental defect during embryogenesis +GARD:0010860,GARD:0022531,GARD:0019421,,Rare genetic disease +GARD:0010860,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0010865,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0010865,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0010865,GARD:0022531,GARD:0020837,,Rare genetic disease +GARD:0010865,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0010865,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0010865,GARD:0022513,GARD:0020837,,Rare developmental defect during embryogenesis +GARD:0010865,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0010865,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0010867,GARD:0022531,GARD:0010179,GARD:0010373,Rare genetic disease +GARD:0010867,GARD:0022510,GARD:0010179,GARD:0010373,Rare skin disease +GARD:0010867,GARD:0022535,GARD:0010179,GARD:0010373,Rare neoplastic disease +GARD:0010870,GARD:0022531,GARD:0020550,GARD:0010871,Rare genetic disease +GARD:0010870,GARD:0022524,GARD:0020550,GARD:0000175,Rare neurologic disease +GARD:0010870,GARD:0022531,GARD:0018974,GARD:0000175,Rare genetic disease +GARD:0010870,GARD:0022524,GARD:0018890,GARD:0000175,Rare neurologic disease +GARD:0010870,GARD:0022531,GARD:0018890,GARD:0004754,Rare genetic disease +GARD:0010870,GARD:0022508,GARD:0018974,GARD:0000175,Rare inborn errors of metabolism +GARD:0010870,GARD:0022531,GARD:0018974,GARD:0004754,Rare genetic disease +GARD:0010870,GARD:0022531,GARD:0020550,GARD:0004754,Rare genetic disease +GARD:0010870,GARD:0022524,GARD:0020550,GARD:0010871,Rare neurologic disease +GARD:0010870,GARD:0022524,GARD:0018890,GARD:0004754,Rare neurologic disease +GARD:0010870,GARD:0022531,GARD:0020550,GARD:0000175,Rare genetic disease +GARD:0010870,GARD:0022524,GARD:0020550,GARD:0004754,Rare neurologic disease +GARD:0010870,GARD:0022508,GARD:0018974,GARD:0004754,Rare inborn errors of metabolism +GARD:0010870,GARD:0022531,GARD:0018974,GARD:0010871,Rare genetic disease +GARD:0010870,GARD:0022531,GARD:0018890,GARD:0010871,Rare genetic disease +GARD:0010870,GARD:0022531,GARD:0018890,GARD:0000175,Rare genetic disease +GARD:0010870,GARD:0022524,GARD:0018890,GARD:0010871,Rare neurologic disease +GARD:0010870,GARD:0022508,GARD:0018974,GARD:0010871,Rare inborn errors of metabolism +GARD:0010871,GARD:0022508,GARD:0010870,,Rare inborn errors of metabolism +GARD:0010871,GARD:0022531,GARD:0010870,,Rare genetic disease +GARD:0010871,GARD:0022524,GARD:0010870,,Rare neurologic disease +GARD:0010872,GARD:0022535,GARD:0004898,GARD:0020741,Rare neoplastic disease +GARD:0010872,GARD:0022535,GARD:0004898,GARD:0020743,Rare neoplastic disease +GARD:0010872,GARD:0022524,GARD:0012697,GARD:0020743,Rare neurologic disease +GARD:0010872,GARD:0022535,GARD:0012697,GARD:0020741,Rare neoplastic disease +GARD:0010872,GARD:0022524,GARD:0012697,GARD:0020741,Rare neurologic disease +GARD:0010872,GARD:0022535,GARD:0012697,GARD:0020743,Rare neoplastic disease +GARD:0010875,GARD:0022513,GARD:0019550,GARD:0004883,Rare developmental defect during embryogenesis +GARD:0010875,GARD:0022513,GARD:0019550,GARD:0006795,Rare developmental defect during embryogenesis +GARD:0010875,GARD:0022513,GARD:0019550,GARD:0020013,Rare developmental defect during embryogenesis +GARD:0010875,GARD:0022513,GARD:0019550,GARD:0012032,Rare developmental defect during embryogenesis +GARD:0010875,GARD:0022519,GARD:0019550,GARD:0012032,Rare surgical cardiac disease +GARD:0010875,GARD:0022519,GARD:0019550,GARD:0020013,Rare surgical cardiac disease +GARD:0010875,GARD:0022519,GARD:0019550,GARD:0004883,Rare surgical cardiac disease +GARD:0010875,GARD:0022513,GARD:0019550,GARD:0001827,Rare developmental defect during embryogenesis +GARD:0010875,GARD:0022519,GARD:0019550,GARD:0006795,Rare surgical cardiac disease +GARD:0010875,GARD:0022513,GARD:0019550,GARD:0022282,Rare developmental defect during embryogenesis +GARD:0010875,GARD:0022519,GARD:0019550,GARD:0022282,Rare surgical cardiac disease +GARD:0010875,GARD:0022519,GARD:0019550,GARD:0001827,Rare surgical cardiac disease +GARD:0010876,GARD:0022511,GARD:0021183,GARD:0021221,Rare bone disease +GARD:0010876,GARD:0022511,GARD:0021183,GARD:0021222,Rare bone disease +GARD:0010876,GARD:0022531,GARD:0021183,GARD:0021222,Rare genetic disease +GARD:0010876,GARD:0022531,GARD:0021183,GARD:0021221,Rare genetic disease +GARD:0010876,GARD:0022513,GARD:0021183,GARD:0021222,Rare developmental defect during embryogenesis +GARD:0010876,GARD:0022513,GARD:0021183,GARD:0021221,Rare developmental defect during embryogenesis +GARD:0010877,GARD:0022535,GARD:0019014,GARD:0010879,Rare neoplastic disease +GARD:0010877,GARD:0022521,GARD:0018893,GARD:0010878,Rare endocrine disease +GARD:0010877,GARD:0022521,GARD:0018893,GARD:0010879,Rare endocrine disease +GARD:0010877,GARD:0022513,GARD:0022020,GARD:0010878,Rare developmental defect during embryogenesis +GARD:0010877,GARD:0022510,GARD:0019014,GARD:0010878,Rare skin disease +GARD:0010877,GARD:0022511,GARD:0022020,GARD:0010879,Rare bone disease +GARD:0010877,GARD:0022531,GARD:0022020,GARD:0010879,Rare genetic disease +GARD:0010877,GARD:0022531,GARD:0020276,GARD:0010878,Rare genetic disease +GARD:0010877,GARD:0022531,GARD:0022020,GARD:0010878,Rare genetic disease +GARD:0010877,GARD:0022531,GARD:0020276,GARD:0010879,Rare genetic disease +GARD:0010877,GARD:0022531,GARD:0020315,GARD:0010879,Rare genetic disease +GARD:0010877,GARD:0022511,GARD:0022020,GARD:0010878,Rare bone disease +GARD:0010877,GARD:0022535,GARD:0019014,GARD:0010878,Rare neoplastic disease +GARD:0010877,GARD:0022510,GARD:0019014,GARD:0010879,Rare skin disease +GARD:0010877,GARD:0022513,GARD:0022020,GARD:0010879,Rare developmental defect during embryogenesis +GARD:0010877,GARD:0022531,GARD:0020315,GARD:0010878,Rare genetic disease +GARD:0010877,GARD:0022535,GARD:0020254,GARD:0010878,Rare neoplastic disease +GARD:0010877,GARD:0022535,GARD:0020254,GARD:0010879,Rare neoplastic disease +GARD:0010878,GARD:0022535,GARD:0010877,,Rare neoplastic disease +GARD:0010878,GARD:0022531,GARD:0010877,,Rare genetic disease +GARD:0010878,GARD:0022510,GARD:0010877,,Rare skin disease +GARD:0010878,GARD:0022511,GARD:0010877,,Rare bone disease +GARD:0010878,GARD:0022513,GARD:0010877,,Rare developmental defect during embryogenesis +GARD:0010878,GARD:0022521,GARD:0010877,,Rare endocrine disease +GARD:0010879,GARD:0022511,GARD:0010877,GARD:0015146,Rare bone disease +GARD:0010879,GARD:0022513,GARD:0010877,GARD:0016281,Rare developmental defect during embryogenesis +GARD:0010879,GARD:0022521,GARD:0010877,GARD:0015146,Rare endocrine disease +GARD:0010879,GARD:0022508,GARD:0021338,GARD:0016282,Rare inborn errors of metabolism +GARD:0010879,GARD:0022508,GARD:0021338,GARD:0016281,Rare inborn errors of metabolism +GARD:0010879,GARD:0022510,GARD:0021610,GARD:0016281,Rare skin disease +GARD:0010879,GARD:0022531,GARD:0021610,GARD:0016282,Rare genetic disease +GARD:0010879,GARD:0022510,GARD:0021610,GARD:0016282,Rare skin disease +GARD:0010879,GARD:0022521,GARD:0010877,GARD:0016282,Rare endocrine disease +GARD:0010879,GARD:0022531,GARD:0010877,GARD:0016282,Rare genetic disease +GARD:0010879,GARD:0022510,GARD:0010877,GARD:0015146,Rare skin disease +GARD:0010879,GARD:0022513,GARD:0010877,GARD:0016282,Rare developmental defect during embryogenesis +GARD:0010879,GARD:0022531,GARD:0021610,GARD:0015146,Rare genetic disease +GARD:0010879,GARD:0022531,GARD:0021338,GARD:0016281,Rare genetic disease +GARD:0010879,GARD:0022535,GARD:0010877,GARD:0016281,Rare neoplastic disease +GARD:0010879,GARD:0022511,GARD:0010877,GARD:0016282,Rare bone disease +GARD:0010879,GARD:0022531,GARD:0010877,GARD:0015146,Rare genetic disease +GARD:0010879,GARD:0022511,GARD:0010877,GARD:0016281,Rare bone disease +GARD:0010879,GARD:0022531,GARD:0021610,GARD:0016281,Rare genetic disease +GARD:0010879,GARD:0022535,GARD:0010877,GARD:0015146,Rare neoplastic disease +GARD:0010879,GARD:0022535,GARD:0010877,GARD:0016282,Rare neoplastic disease +GARD:0010879,GARD:0022510,GARD:0021610,GARD:0015146,Rare skin disease +GARD:0010879,GARD:0022521,GARD:0010877,GARD:0016281,Rare endocrine disease +GARD:0010879,GARD:0022510,GARD:0010877,GARD:0016281,Rare skin disease +GARD:0010879,GARD:0022508,GARD:0021338,GARD:0015146,Rare inborn errors of metabolism +GARD:0010879,GARD:0022531,GARD:0021338,GARD:0015146,Rare genetic disease +GARD:0010879,GARD:0022513,GARD:0010877,GARD:0015146,Rare developmental defect during embryogenesis +GARD:0010879,GARD:0022510,GARD:0010877,GARD:0016282,Rare skin disease +GARD:0010879,GARD:0022531,GARD:0021338,GARD:0016282,Rare genetic disease +GARD:0010879,GARD:0022531,GARD:0010877,GARD:0016281,Rare genetic disease +GARD:0010880,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0010880,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0010880,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0010881,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0010881,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0010881,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0010882,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0010882,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0010882,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0010883,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0010883,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0010883,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0010884,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0010884,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0010884,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0010885,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0010885,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0010885,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0010886,GARD:0022510,GARD:0020744,,Rare skin disease +GARD:0010886,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0010887,GARD:0022513,GARD:0021567,,Rare developmental defect during embryogenesis +GARD:0010887,GARD:0022511,GARD:0021567,,Rare bone disease +GARD:0010887,GARD:0022531,GARD:0021567,,Rare genetic disease +GARD:0010889,GARD:0022512,GARD:0022237,,Rare renal disease +GARD:0010889,GARD:0022531,GARD:0021963,,Rare genetic disease +GARD:0010889,GARD:0022524,GARD:0021963,,Rare neurologic disease +GARD:0010889,GARD:0022536,GARD:0022237,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010889,GARD:0022531,GARD:0022237,,Rare genetic disease +GARD:0010890,GARD:0022535,GARD:0021910,,Rare neoplastic disease +GARD:0010890,GARD:0022513,GARD:0021910,,Rare developmental defect during embryogenesis +GARD:0010890,GARD:0022527,GARD:0021910,,Rare circulatory system disease +GARD:0010891,GARD:0022536,GARD:0012510,GARD:0002431,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010891,GARD:0022536,GARD:0012510,GARD:0006479,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010891,GARD:0022524,GARD:0012510,GARD:0010126,Rare neurologic disease +GARD:0010891,GARD:0022531,GARD:0012510,GARD:0006479,Rare genetic disease +GARD:0010891,GARD:0022531,GARD:0019203,GARD:0002431,Rare genetic disease +GARD:0010891,GARD:0022531,GARD:0012510,GARD:0002431,Rare genetic disease +GARD:0010891,GARD:0022524,GARD:0012510,GARD:0002431,Rare neurologic disease +GARD:0010891,GARD:0022531,GARD:0018890,GARD:0010126,Rare genetic disease +GARD:0010891,GARD:0022524,GARD:0018890,GARD:0002431,Rare neurologic disease +GARD:0010891,GARD:0022511,GARD:0019203,GARD:0002431,Rare bone disease +GARD:0010891,GARD:0022508,GARD:0012510,GARD:0002431,Rare inborn errors of metabolism +GARD:0010891,GARD:0022536,GARD:0012510,GARD:0010126,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010891,GARD:0022531,GARD:0012510,GARD:0010126,Rare genetic disease +GARD:0010891,GARD:0022511,GARD:0019203,GARD:0006479,Rare bone disease +GARD:0010891,GARD:0022508,GARD:0012510,GARD:0010126,Rare inborn errors of metabolism +GARD:0010891,GARD:0022524,GARD:0018890,GARD:0006479,Rare neurologic disease +GARD:0010891,GARD:0022531,GARD:0019203,GARD:0006479,Rare genetic disease +GARD:0010891,GARD:0022524,GARD:0012510,GARD:0006479,Rare neurologic disease +GARD:0010891,GARD:0022531,GARD:0018890,GARD:0006479,Rare genetic disease +GARD:0010891,GARD:0022531,GARD:0019203,GARD:0010126,Rare genetic disease +GARD:0010891,GARD:0022524,GARD:0018890,GARD:0010126,Rare neurologic disease +GARD:0010891,GARD:0022511,GARD:0019203,GARD:0010126,Rare bone disease +GARD:0010891,GARD:0022508,GARD:0012510,GARD:0006479,Rare inborn errors of metabolism +GARD:0010891,GARD:0022531,GARD:0018890,GARD:0002431,Rare genetic disease +GARD:0010892,GARD:0022524,GARD:0019832,GARD:0017342,Rare neurologic disease +GARD:0010892,GARD:0022513,GARD:0019832,GARD:0016618,Rare developmental defect during embryogenesis +GARD:0010892,GARD:0022520,GARD:0019507,GARD:0003348,Rare ophthalmic disorder +GARD:0010892,GARD:0022513,GARD:0019832,GARD:0017341,Rare developmental defect during embryogenesis +GARD:0010892,GARD:0022513,GARD:0019507,GARD:0003750,Rare developmental defect during embryogenesis +GARD:0010892,GARD:0022524,GARD:0019832,GARD:0003750,Rare neurologic disease +GARD:0010892,GARD:0022531,GARD:0022441,GARD:0003348,Rare genetic disease +GARD:0010892,GARD:0022531,GARD:0019507,GARD:0017341,Rare genetic disease +GARD:0010892,GARD:0022531,GARD:0022441,GARD:0003750,Rare genetic disease +GARD:0010892,GARD:0022513,GARD:0019507,GARD:0017342,Rare developmental defect during embryogenesis +GARD:0010892,GARD:0022520,GARD:0019507,GARD:0017341,Rare ophthalmic disorder +GARD:0010892,GARD:0022520,GARD:0019507,GARD:0017342,Rare ophthalmic disorder +GARD:0010892,GARD:0022524,GARD:0019832,GARD:0003348,Rare neurologic disease +GARD:0010892,GARD:0022531,GARD:0022441,GARD:0017341,Rare genetic disease +GARD:0010892,GARD:0022531,GARD:0019507,GARD:0003750,Rare genetic disease +GARD:0010892,GARD:0022513,GARD:0019832,GARD:0017342,Rare developmental defect during embryogenesis +GARD:0010892,GARD:0022531,GARD:0022441,GARD:0016618,Rare genetic disease +GARD:0010892,GARD:0022531,GARD:0022441,GARD:0017342,Rare genetic disease +GARD:0010892,GARD:0022520,GARD:0019507,GARD:0003750,Rare ophthalmic disorder +GARD:0010892,GARD:0022513,GARD:0019507,GARD:0017341,Rare developmental defect during embryogenesis +GARD:0010892,GARD:0022520,GARD:0019507,GARD:0016618,Rare ophthalmic disorder +GARD:0010892,GARD:0022531,GARD:0019507,GARD:0003348,Rare genetic disease +GARD:0010892,GARD:0022531,GARD:0019507,GARD:0016618,Rare genetic disease +GARD:0010892,GARD:0022524,GARD:0019832,GARD:0017341,Rare neurologic disease +GARD:0010892,GARD:0022531,GARD:0019507,GARD:0017342,Rare genetic disease +GARD:0010892,GARD:0022513,GARD:0019507,GARD:0016618,Rare developmental defect during embryogenesis +GARD:0010892,GARD:0022513,GARD:0019832,GARD:0003348,Rare developmental defect during embryogenesis +GARD:0010892,GARD:0022524,GARD:0019832,GARD:0016618,Rare neurologic disease +GARD:0010892,GARD:0022513,GARD:0019507,GARD:0003348,Rare developmental defect during embryogenesis +GARD:0010892,GARD:0022513,GARD:0019832,GARD:0003750,Rare developmental defect during embryogenesis +GARD:0010898,GARD:0022536,GARD:0019465,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010898,GARD:0022522,GARD:0019465,,Rare hematologic disease +GARD:0010899,GARD:0022531,GARD:0019205,GARD:0015962,Rare genetic disease +GARD:0010899,GARD:0022524,GARD:0019485,GARD:0015963,Rare neurologic disease +GARD:0010899,GARD:0022511,GARD:0019200,GARD:0015963,Rare bone disease +GARD:0010899,GARD:0022531,GARD:0019200,GARD:0015962,Rare genetic disease +GARD:0010899,GARD:0022524,GARD:0019485,GARD:0015962,Rare neurologic disease +GARD:0010899,GARD:0022513,GARD:0019205,GARD:0015963,Rare developmental defect during embryogenesis +GARD:0010899,GARD:0022513,GARD:0019205,GARD:0015962,Rare developmental defect during embryogenesis +GARD:0010899,GARD:0022531,GARD:0021040,GARD:0015963,Rare genetic disease +GARD:0010899,GARD:0022531,GARD:0019200,GARD:0015963,Rare genetic disease +GARD:0010899,GARD:0022511,GARD:0019200,GARD:0015962,Rare bone disease +GARD:0010899,GARD:0022513,GARD:0019200,GARD:0015962,Rare developmental defect during embryogenesis +GARD:0010899,GARD:0022531,GARD:0020364,GARD:0015962,Rare genetic disease +GARD:0010899,GARD:0022511,GARD:0019205,GARD:0015963,Rare bone disease +GARD:0010899,GARD:0022524,GARD:0020364,GARD:0015962,Rare neurologic disease +GARD:0010899,GARD:0022511,GARD:0019205,GARD:0015962,Rare bone disease +GARD:0010899,GARD:0022524,GARD:0020364,GARD:0015963,Rare neurologic disease +GARD:0010899,GARD:0022531,GARD:0021040,GARD:0015962,Rare genetic disease +GARD:0010899,GARD:0022513,GARD:0019200,GARD:0015963,Rare developmental defect during embryogenesis +GARD:0010899,GARD:0022531,GARD:0019205,GARD:0015963,Rare genetic disease +GARD:0010899,GARD:0022531,GARD:0020364,GARD:0015963,Rare genetic disease +GARD:0010900,GARD:0022516,GARD:0021758,,Rare gastroenterologic disease +GARD:0010900,GARD:0022531,GARD:0020061,,Rare genetic disease +GARD:0010900,GARD:0022535,GARD:0021758,,Rare neoplastic disease +GARD:0010900,GARD:0022531,GARD:0021012,,Rare genetic disease +GARD:0010902,GARD:0022531,GARD:0020029,GARD:0016874,Rare genetic disease +GARD:0010902,GARD:0022531,GARD:0020029,GARD:0006564,Rare genetic disease +GARD:0010902,GARD:0022531,GARD:0021039,GARD:0016874,Rare genetic disease +GARD:0010902,GARD:0022524,GARD:0019484,GARD:0006564,Rare neurologic disease +GARD:0010902,GARD:0022524,GARD:0020029,GARD:0010731,Rare neurologic disease +GARD:0010902,GARD:0022531,GARD:0021285,GARD:0003956,Rare genetic disease +GARD:0010902,GARD:0022524,GARD:0019484,GARD:0010731,Rare neurologic disease +GARD:0010902,GARD:0022524,GARD:0020029,GARD:0016874,Rare neurologic disease +GARD:0010902,GARD:0022531,GARD:0020029,GARD:0010731,Rare genetic disease +GARD:0010902,GARD:0022524,GARD:0021267,GARD:0006564,Rare neurologic disease +GARD:0010902,GARD:0022531,GARD:0021039,GARD:0006564,Rare genetic disease +GARD:0010902,GARD:0022524,GARD:0019484,GARD:0003956,Rare neurologic disease +GARD:0010902,GARD:0022531,GARD:0021039,GARD:0010731,Rare genetic disease +GARD:0010902,GARD:0022531,GARD:0021285,GARD:0010731,Rare genetic disease +GARD:0010902,GARD:0022531,GARD:0021039,GARD:0003956,Rare genetic disease +GARD:0010902,GARD:0022524,GARD:0020029,GARD:0006564,Rare neurologic disease +GARD:0010902,GARD:0022524,GARD:0021267,GARD:0003956,Rare neurologic disease +GARD:0010902,GARD:0022531,GARD:0021285,GARD:0016874,Rare genetic disease +GARD:0010902,GARD:0022524,GARD:0019484,GARD:0016874,Rare neurologic disease +GARD:0010902,GARD:0022531,GARD:0021285,GARD:0006564,Rare genetic disease +GARD:0010902,GARD:0022524,GARD:0021267,GARD:0016874,Rare neurologic disease +GARD:0010902,GARD:0022531,GARD:0020029,GARD:0003956,Rare genetic disease +GARD:0010902,GARD:0022524,GARD:0020029,GARD:0003956,Rare neurologic disease +GARD:0010902,GARD:0022524,GARD:0021267,GARD:0010731,Rare neurologic disease +GARD:0010903,GARD:0022511,GARD:0019193,GARD:0013171,Rare bone disease +GARD:0010903,GARD:0022513,GARD:0019193,GARD:0005478,Rare developmental defect during embryogenesis +GARD:0010903,GARD:0022511,GARD:0019193,GARD:0016816,Rare bone disease +GARD:0010903,GARD:0022531,GARD:0019193,GARD:0016816,Rare genetic disease +GARD:0010903,GARD:0022511,GARD:0019193,GARD:0010429,Rare bone disease +GARD:0010903,GARD:0022513,GARD:0019193,GARD:0010429,Rare developmental defect during embryogenesis +GARD:0010903,GARD:0022531,GARD:0019193,GARD:0013171,Rare genetic disease +GARD:0010903,GARD:0022513,GARD:0019193,GARD:0016816,Rare developmental defect during embryogenesis +GARD:0010903,GARD:0022513,GARD:0019193,GARD:0013171,Rare developmental defect during embryogenesis +GARD:0010903,GARD:0022531,GARD:0019193,GARD:0005478,Rare genetic disease +GARD:0010903,GARD:0022511,GARD:0019193,GARD:0005478,Rare bone disease +GARD:0010903,GARD:0022531,GARD:0019193,GARD:0010429,Rare genetic disease +GARD:0010905,GARD:0022535,GARD:0019921,GARD:0015742,Rare neoplastic disease +GARD:0010905,GARD:0022531,GARD:0019921,GARD:0015917,Rare genetic disease +GARD:0010905,GARD:0022510,GARD:0006317,GARD:0015739,Rare skin disease +GARD:0010905,GARD:0022520,GARD:0022083,GARD:0006300,Rare ophthalmic disorder +GARD:0010905,GARD:0022531,GARD:0019921,GARD:0015739,Rare genetic disease +GARD:0010905,GARD:0022535,GARD:0019921,GARD:0016095,Rare neoplastic disease +GARD:0010905,GARD:0022531,GARD:0021510,GARD:0006299,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0019431,GARD:0015740,Rare genetic disease +GARD:0010905,GARD:0022510,GARD:0006317,GARD:0006299,Rare skin disease +GARD:0010905,GARD:0022513,GARD:0019431,GARD:0015739,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022524,GARD:0022440,GARD:0015917,Rare neurologic disease +GARD:0010905,GARD:0022531,GARD:0020270,GARD:0006300,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0018889,GARD:0016095,Rare genetic disease +GARD:0010905,GARD:0022510,GARD:0006317,GARD:0006300,Rare skin disease +GARD:0010905,GARD:0022531,GARD:0019921,GARD:0016095,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0022083,GARD:0015741,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0020545,GARD:0002007,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0021510,GARD:0002007,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0022083,GARD:0015742,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0019921,GARD:0015741,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0022440,GARD:0016095,Rare genetic disease +GARD:0010905,GARD:0022510,GARD:0006317,GARD:0002007,Rare skin disease +GARD:0010905,GARD:0022510,GARD:0019004,GARD:0006300,Rare skin disease +GARD:0010905,GARD:0022510,GARD:0006317,GARD:0015741,Rare skin disease +GARD:0010905,GARD:0022531,GARD:0006317,GARD:0016095,Rare genetic disease +GARD:0010905,GARD:0022535,GARD:0019921,GARD:0015740,Rare neoplastic disease +GARD:0010905,GARD:0022535,GARD:0019921,GARD:0006300,Rare neoplastic disease +GARD:0010905,GARD:0022513,GARD:0022083,GARD:0015917,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022531,GARD:0021510,GARD:0015739,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0022083,GARD:0016095,Rare genetic disease +GARD:0010905,GARD:0022535,GARD:0019921,GARD:0015739,Rare neoplastic disease +GARD:0010905,GARD:0022531,GARD:0020545,GARD:0006299,Rare genetic disease +GARD:0010905,GARD:0022510,GARD:0020545,GARD:0015740,Rare skin disease +GARD:0010905,GARD:0022531,GARD:0022083,GARD:0015739,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0020545,GARD:0016095,Rare genetic disease +GARD:0010905,GARD:0022535,GARD:0019921,GARD:0015917,Rare neoplastic disease +GARD:0010905,GARD:0022531,GARD:0006317,GARD:0015739,Rare genetic disease +GARD:0010905,GARD:0022520,GARD:0022083,GARD:0006299,Rare ophthalmic disorder +GARD:0010905,GARD:0022513,GARD:0006317,GARD:0015917,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022523,GARD:0021510,GARD:0015739,Rare immune disease +GARD:0010905,GARD:0022520,GARD:0022083,GARD:0002007,Rare ophthalmic disorder +GARD:0010905,GARD:0022531,GARD:0020270,GARD:0015917,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0020270,GARD:0015740,Rare genetic disease +GARD:0010905,GARD:0022536,GARD:0018889,GARD:0015741,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010905,GARD:0022510,GARD:0019004,GARD:0015917,Rare skin disease +GARD:0010905,GARD:0022510,GARD:0019004,GARD:0006299,Rare skin disease +GARD:0010905,GARD:0022531,GARD:0021510,GARD:0016095,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0022440,GARD:0006299,Rare genetic disease +GARD:0010905,GARD:0022536,GARD:0018889,GARD:0006299,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010905,GARD:0022510,GARD:0020545,GARD:0015917,Rare skin disease +GARD:0010905,GARD:0022513,GARD:0006317,GARD:0015739,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022531,GARD:0018889,GARD:0006300,Rare genetic disease +GARD:0010905,GARD:0022536,GARD:0018889,GARD:0016095,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010905,GARD:0022510,GARD:0006317,GARD:0015742,Rare skin disease +GARD:0010905,GARD:0022523,GARD:0021510,GARD:0015742,Rare immune disease +GARD:0010905,GARD:0022531,GARD:0022440,GARD:0015740,Rare genetic disease +GARD:0010905,GARD:0022510,GARD:0020545,GARD:0006300,Rare skin disease +GARD:0010905,GARD:0022522,GARD:0018889,GARD:0015740,Rare hematologic disease +GARD:0010905,GARD:0022535,GARD:0019921,GARD:0002007,Rare neoplastic disease +GARD:0010905,GARD:0022510,GARD:0019004,GARD:0015739,Rare skin disease +GARD:0010905,GARD:0022523,GARD:0021510,GARD:0016095,Rare immune disease +GARD:0010905,GARD:0022531,GARD:0022440,GARD:0015917,Rare genetic disease +GARD:0010905,GARD:0022522,GARD:0018889,GARD:0006300,Rare hematologic disease +GARD:0010905,GARD:0022520,GARD:0022083,GARD:0016095,Rare ophthalmic disorder +GARD:0010905,GARD:0022531,GARD:0020270,GARD:0006299,Rare genetic disease +GARD:0010905,GARD:0022510,GARD:0020545,GARD:0015739,Rare skin disease +GARD:0010905,GARD:0022523,GARD:0021510,GARD:0015741,Rare immune disease +GARD:0010905,GARD:0022531,GARD:0006317,GARD:0015740,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0022083,GARD:0006300,Rare genetic disease +GARD:0010905,GARD:0022524,GARD:0022440,GARD:0006300,Rare neurologic disease +GARD:0010905,GARD:0022531,GARD:0006317,GARD:0015742,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0021510,GARD:0015740,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0020270,GARD:0015739,Rare genetic disease +GARD:0010905,GARD:0022510,GARD:0019004,GARD:0015740,Rare skin disease +GARD:0010905,GARD:0022513,GARD:0006317,GARD:0015742,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022510,GARD:0019004,GARD:0002007,Rare skin disease +GARD:0010905,GARD:0022513,GARD:0006317,GARD:0006300,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022531,GARD:0022440,GARD:0015739,Rare genetic disease +GARD:0010905,GARD:0022522,GARD:0018889,GARD:0002007,Rare hematologic disease +GARD:0010905,GARD:0022531,GARD:0019431,GARD:0006299,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0022440,GARD:0015741,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0006317,GARD:0015741,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0022440,GARD:0002007,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0018889,GARD:0015740,Rare genetic disease +GARD:0010905,GARD:0022513,GARD:0019431,GARD:0006299,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022524,GARD:0022440,GARD:0015741,Rare neurologic disease +GARD:0010905,GARD:0022531,GARD:0022440,GARD:0015742,Rare genetic disease +GARD:0010905,GARD:0022510,GARD:0020545,GARD:0015741,Rare skin disease +GARD:0010905,GARD:0022524,GARD:0022440,GARD:0015739,Rare neurologic disease +GARD:0010905,GARD:0022513,GARD:0019431,GARD:0015741,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022513,GARD:0006317,GARD:0015740,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022531,GARD:0006317,GARD:0006299,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0018889,GARD:0002007,Rare genetic disease +GARD:0010905,GARD:0022513,GARD:0022083,GARD:0006299,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022531,GARD:0019431,GARD:0015741,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0020545,GARD:0015739,Rare genetic disease +GARD:0010905,GARD:0022513,GARD:0022083,GARD:0006300,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022524,GARD:0022440,GARD:0016095,Rare neurologic disease +GARD:0010905,GARD:0022520,GARD:0022083,GARD:0015917,Rare ophthalmic disorder +GARD:0010905,GARD:0022510,GARD:0020545,GARD:0016095,Rare skin disease +GARD:0010905,GARD:0022510,GARD:0019004,GARD:0015741,Rare skin disease +GARD:0010905,GARD:0022522,GARD:0018889,GARD:0015917,Rare hematologic disease +GARD:0010905,GARD:0022522,GARD:0018889,GARD:0006299,Rare hematologic disease +GARD:0010905,GARD:0022524,GARD:0022440,GARD:0015740,Rare neurologic disease +GARD:0010905,GARD:0022510,GARD:0019004,GARD:0015742,Rare skin disease +GARD:0010905,GARD:0022531,GARD:0006317,GARD:0002007,Rare genetic disease +GARD:0010905,GARD:0022510,GARD:0020545,GARD:0015742,Rare skin disease +GARD:0010905,GARD:0022520,GARD:0022083,GARD:0015742,Rare ophthalmic disorder +GARD:0010905,GARD:0022520,GARD:0022083,GARD:0015741,Rare ophthalmic disorder +GARD:0010905,GARD:0022510,GARD:0020545,GARD:0006299,Rare skin disease +GARD:0010905,GARD:0022513,GARD:0022083,GARD:0002007,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022536,GARD:0018889,GARD:0015917,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010905,GARD:0022531,GARD:0018889,GARD:0015739,Rare genetic disease +GARD:0010905,GARD:0022536,GARD:0018889,GARD:0015742,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010905,GARD:0022513,GARD:0022083,GARD:0015741,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022531,GARD:0018889,GARD:0006299,Rare genetic disease +GARD:0010905,GARD:0022513,GARD:0019431,GARD:0006300,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022531,GARD:0019431,GARD:0006300,Rare genetic disease +GARD:0010905,GARD:0022524,GARD:0022440,GARD:0002007,Rare neurologic disease +GARD:0010905,GARD:0022531,GARD:0006317,GARD:0015917,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0019431,GARD:0015739,Rare genetic disease +GARD:0010905,GARD:0022513,GARD:0022083,GARD:0016095,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022524,GARD:0022440,GARD:0015742,Rare neurologic disease +GARD:0010905,GARD:0022531,GARD:0022083,GARD:0002007,Rare genetic disease +GARD:0010905,GARD:0022535,GARD:0019921,GARD:0015741,Rare neoplastic disease +GARD:0010905,GARD:0022531,GARD:0020270,GARD:0002007,Rare genetic disease +GARD:0010905,GARD:0022510,GARD:0020545,GARD:0002007,Rare skin disease +GARD:0010905,GARD:0022531,GARD:0020270,GARD:0015742,Rare genetic disease +GARD:0010905,GARD:0022513,GARD:0006317,GARD:0006299,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022531,GARD:0018889,GARD:0015742,Rare genetic disease +GARD:0010905,GARD:0022523,GARD:0021510,GARD:0006299,Rare immune disease +GARD:0010905,GARD:0022531,GARD:0021510,GARD:0015917,Rare genetic disease +GARD:0010905,GARD:0022535,GARD:0019921,GARD:0006299,Rare neoplastic disease +GARD:0010905,GARD:0022536,GARD:0018889,GARD:0015739,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010905,GARD:0022531,GARD:0021510,GARD:0015742,Rare genetic disease +GARD:0010905,GARD:0022536,GARD:0018889,GARD:0006300,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010905,GARD:0022531,GARD:0018889,GARD:0015741,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0022083,GARD:0015740,Rare genetic disease +GARD:0010905,GARD:0022513,GARD:0019431,GARD:0002007,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022513,GARD:0019431,GARD:0015740,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022522,GARD:0018889,GARD:0015739,Rare hematologic disease +GARD:0010905,GARD:0022523,GARD:0021510,GARD:0015740,Rare immune disease +GARD:0010905,GARD:0022524,GARD:0022440,GARD:0006299,Rare neurologic disease +GARD:0010905,GARD:0022531,GARD:0022440,GARD:0006300,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0020270,GARD:0016095,Rare genetic disease +GARD:0010905,GARD:0022523,GARD:0021510,GARD:0006300,Rare immune disease +GARD:0010905,GARD:0022520,GARD:0022083,GARD:0015740,Rare ophthalmic disorder +GARD:0010905,GARD:0022531,GARD:0021510,GARD:0006300,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0019431,GARD:0015742,Rare genetic disease +GARD:0010905,GARD:0022513,GARD:0019431,GARD:0015742,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022522,GARD:0018889,GARD:0015742,Rare hematologic disease +GARD:0010905,GARD:0022531,GARD:0021510,GARD:0015741,Rare genetic disease +GARD:0010905,GARD:0022522,GARD:0018889,GARD:0015741,Rare hematologic disease +GARD:0010905,GARD:0022531,GARD:0018889,GARD:0015917,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0006317,GARD:0006300,Rare genetic disease +GARD:0010905,GARD:0022536,GARD:0018889,GARD:0002007,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010905,GARD:0022513,GARD:0022083,GARD:0015742,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022510,GARD:0006317,GARD:0015740,Rare skin disease +GARD:0010905,GARD:0022510,GARD:0006317,GARD:0016095,Rare skin disease +GARD:0010905,GARD:0022531,GARD:0019431,GARD:0016095,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0022083,GARD:0006299,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0020545,GARD:0015742,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0019921,GARD:0002007,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0020545,GARD:0006300,Rare genetic disease +GARD:0010905,GARD:0022520,GARD:0022083,GARD:0015739,Rare ophthalmic disorder +GARD:0010905,GARD:0022522,GARD:0018889,GARD:0016095,Rare hematologic disease +GARD:0010905,GARD:0022531,GARD:0019921,GARD:0006300,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0020545,GARD:0015740,Rare genetic disease +GARD:0010905,GARD:0022513,GARD:0019431,GARD:0015917,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022531,GARD:0019431,GARD:0002007,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0019921,GARD:0015742,Rare genetic disease +GARD:0010905,GARD:0022510,GARD:0019004,GARD:0016095,Rare skin disease +GARD:0010905,GARD:0022513,GARD:0006317,GARD:0015741,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022531,GARD:0020545,GARD:0015917,Rare genetic disease +GARD:0010905,GARD:0022513,GARD:0006317,GARD:0002007,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022510,GARD:0006317,GARD:0015917,Rare skin disease +GARD:0010905,GARD:0022513,GARD:0022083,GARD:0015739,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022531,GARD:0019921,GARD:0006299,Rare genetic disease +GARD:0010905,GARD:0022536,GARD:0018889,GARD:0015740,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010905,GARD:0022513,GARD:0022083,GARD:0015740,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022513,GARD:0019431,GARD:0016095,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022531,GARD:0020545,GARD:0015741,Rare genetic disease +GARD:0010905,GARD:0022513,GARD:0006317,GARD:0016095,Rare developmental defect during embryogenesis +GARD:0010905,GARD:0022531,GARD:0020270,GARD:0015741,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0019431,GARD:0015917,Rare genetic disease +GARD:0010905,GARD:0022523,GARD:0021510,GARD:0002007,Rare immune disease +GARD:0010905,GARD:0022523,GARD:0021510,GARD:0015917,Rare immune disease +GARD:0010905,GARD:0022531,GARD:0019921,GARD:0015740,Rare genetic disease +GARD:0010905,GARD:0022531,GARD:0022083,GARD:0015917,Rare genetic disease +GARD:0010906,GARD:0022529,GARD:0019700,GARD:0015489,Rare infertility +GARD:0010906,GARD:0022521,GARD:0019700,GARD:0015769,Rare endocrine disease +GARD:0010906,GARD:0022529,GARD:0019700,GARD:0015769,Rare infertility +GARD:0010906,GARD:0022531,GARD:0020316,GARD:0018620,Rare genetic disease +GARD:0010906,GARD:0022531,GARD:0020316,GARD:0015769,Rare genetic disease +GARD:0010906,GARD:0022521,GARD:0019700,GARD:0018620,Rare endocrine disease +GARD:0010906,GARD:0022529,GARD:0019700,GARD:0018620,Rare infertility +GARD:0010906,GARD:0022521,GARD:0019700,GARD:0015489,Rare endocrine disease +GARD:0010906,GARD:0022531,GARD:0020316,GARD:0016016,Rare genetic disease +GARD:0010906,GARD:0022531,GARD:0020316,GARD:0015489,Rare genetic disease +GARD:0010906,GARD:0022529,GARD:0019700,GARD:0016016,Rare infertility +GARD:0010906,GARD:0022521,GARD:0019700,GARD:0016016,Rare endocrine disease +GARD:0010907,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0010907,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0010907,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010909,GARD:0022520,GARD:0009821,GARD:0016064,Rare ophthalmic disorder +GARD:0010909,GARD:0022520,GARD:0009821,GARD:0010120,Rare ophthalmic disorder +GARD:0010909,GARD:0022531,GARD:0009821,GARD:0016064,Rare genetic disease +GARD:0010909,GARD:0022520,GARD:0009821,GARD:0016065,Rare ophthalmic disorder +GARD:0010909,GARD:0022531,GARD:0009821,GARD:0016065,Rare genetic disease +GARD:0010909,GARD:0022531,GARD:0009821,GARD:0010120,Rare genetic disease +GARD:0010910,GARD:0022511,GARD:0012704,,Rare bone disease +GARD:0010910,GARD:0022525,GARD:0012704,,Rare systemic or rheumatologic disease +GARD:0010911,GARD:0022516,GARD:0019787,GARD:0021076,Rare gastroenterologic disease +GARD:0010911,GARD:0022525,GARD:0012521,GARD:0021076,Rare systemic or rheumatologic disease +GARD:0010911,GARD:0022516,GARD:0019787,GARD:0021077,Rare gastroenterologic disease +GARD:0010911,GARD:0022525,GARD:0012521,GARD:0021077,Rare systemic or rheumatologic disease +GARD:0010913,GARD:0022531,GARD:0021125,GARD:0002566,Rare genetic disease +GARD:0010913,GARD:0022520,GARD:0021125,GARD:0004483,Rare ophthalmic disorder +GARD:0010913,GARD:0022510,GARD:0021125,GARD:0009715,Rare skin disease +GARD:0010913,GARD:0022510,GARD:0021125,GARD:0004483,Rare skin disease +GARD:0010913,GARD:0022520,GARD:0021125,GARD:0002566,Rare ophthalmic disorder +GARD:0010913,GARD:0022531,GARD:0021125,GARD:0004483,Rare genetic disease +GARD:0010913,GARD:0022531,GARD:0021125,GARD:0009715,Rare genetic disease +GARD:0010913,GARD:0022520,GARD:0021125,GARD:0009715,Rare ophthalmic disorder +GARD:0010913,GARD:0022510,GARD:0021125,GARD:0002566,Rare skin disease +GARD:0010914,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0010914,GARD:0022511,GARD:0021664,,Rare bone disease +GARD:0010914,GARD:0022531,GARD:0021668,,Rare genetic disease +GARD:0010914,GARD:0022525,GARD:0021664,,Rare systemic or rheumatologic disease +GARD:0010915,GARD:0022523,GARD:0020633,GARD:0007906,Rare immune disease +GARD:0010915,GARD:0022523,GARD:0020025,GARD:0007906,Rare immune disease +GARD:0010915,GARD:0022523,GARD:0020633,GARD:0010916,Rare immune disease +GARD:0010915,GARD:0022531,GARD:0020025,GARD:0007906,Rare genetic disease +GARD:0010915,GARD:0022535,GARD:0020633,GARD:0007906,Rare neoplastic disease +GARD:0010915,GARD:0022531,GARD:0020025,GARD:0010916,Rare genetic disease +GARD:0010915,GARD:0022531,GARD:0020633,GARD:0010916,Rare genetic disease +GARD:0010915,GARD:0022531,GARD:0020633,GARD:0007906,Rare genetic disease +GARD:0010915,GARD:0022536,GARD:0020633,GARD:0010916,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010915,GARD:0022536,GARD:0020633,GARD:0007906,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010915,GARD:0022523,GARD:0020025,GARD:0010916,Rare immune disease +GARD:0010915,GARD:0022535,GARD:0020633,GARD:0010916,Rare neoplastic disease +GARD:0010915,GARD:0022536,GARD:0020025,GARD:0007906,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010915,GARD:0022536,GARD:0020025,GARD:0010916,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010916,GARD:0022516,GARD:0019849,,Rare gastroenterologic disease +GARD:0010916,GARD:0022531,GARD:0010915,,Rare genetic disease +GARD:0010916,GARD:0022535,GARD:0010915,,Rare neoplastic disease +GARD:0010916,GARD:0022523,GARD:0010915,,Rare immune disease +GARD:0010916,GARD:0022531,GARD:0020060,,Rare genetic disease +GARD:0010916,GARD:0022536,GARD:0010915,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010916,GARD:0022536,GARD:0019849,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010917,GARD:0022524,GARD:0006895,GARD:0015557,Rare neurologic disease +GARD:0010917,GARD:0022531,GARD:0006895,GARD:0015557,Rare genetic disease +GARD:0010917,GARD:0022531,GARD:0006895,GARD:0016266,Rare genetic disease +GARD:0010917,GARD:0022524,GARD:0006895,GARD:0016266,Rare neurologic disease +GARD:0010919,GARD:0022524,GARD:0019483,,Rare neurologic disease +GARD:0010919,GARD:0022513,GARD:0019483,,Rare developmental defect during embryogenesis +GARD:0010921,GARD:0022524,GARD:0012698,,Rare neurologic disease +GARD:0010921,GARD:0022535,GARD:0012698,,Rare neoplastic disease +GARD:0010922,GARD:0022513,GARD:0020914,,Rare developmental defect during embryogenesis +GARD:0010922,GARD:0022531,GARD:0020914,,Rare genetic disease +GARD:0010923,GARD:0022510,GARD:0018986,GARD:0016528,Rare skin disease +GARD:0010923,GARD:0022531,GARD:0020262,GARD:0016528,Rare genetic disease +GARD:0010923,GARD:0022531,GARD:0020262,GARD:0018639,Rare genetic disease +GARD:0010923,GARD:0022531,GARD:0020262,GARD:0021504,Rare genetic disease +GARD:0010923,GARD:0022510,GARD:0018986,GARD:0018639,Rare skin disease +GARD:0010923,GARD:0022510,GARD:0018986,GARD:0021504,Rare skin disease +GARD:0010924,GARD:0022531,GARD:0019766,,Rare genetic disease +GARD:0010924,GARD:0022535,GARD:0019766,,Rare neoplastic disease +GARD:0010924,GARD:0022521,GARD:0019766,,Rare endocrine disease +GARD:0010925,GARD:0022509,GARD:0019433,,Rare infectious disease +GARD:0010925,GARD:0022524,GARD:0019433,,Rare neurologic disease +GARD:0010925,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0010927,GARD:0022510,GARD:0021162,GARD:0001356,Rare skin disease +GARD:0010927,GARD:0022510,GARD:0021162,GARD:0022454,Rare skin disease +GARD:0010927,GARD:0022531,GARD:0022488,GARD:0001356,Rare genetic disease +GARD:0010927,GARD:0022531,GARD:0021453,GARD:0001356,Rare genetic disease +GARD:0010927,GARD:0022525,GARD:0021453,GARD:0022454,Rare systemic or rheumatologic disease +GARD:0010927,GARD:0022525,GARD:0021453,GARD:0001356,Rare systemic or rheumatologic disease +GARD:0010927,GARD:0021079,GARD:0021453,GARD:0001356,Rare systemic or rheumatological disease of childhood +GARD:0010927,GARD:0022531,GARD:0021161,GARD:0001356,Rare genetic disease +GARD:0010927,GARD:0022531,GARD:0021161,GARD:0008472,Rare genetic disease +GARD:0010927,GARD:0022523,GARD:0021161,GARD:0008472,Rare immune disease +GARD:0010927,GARD:0022525,GARD:0021453,GARD:0008472,Rare systemic or rheumatologic disease +GARD:0010927,GARD:0022510,GARD:0021162,GARD:0009535,Rare skin disease +GARD:0010927,GARD:0022523,GARD:0021161,GARD:0001356,Rare immune disease +GARD:0010927,GARD:0021079,GARD:0021453,GARD:0009535,Rare systemic or rheumatological disease of childhood +GARD:0010927,GARD:0022525,GARD:0021453,GARD:0009535,Rare systemic or rheumatologic disease +GARD:0010927,GARD:0022523,GARD:0021161,GARD:0022454,Rare immune disease +GARD:0010927,GARD:0022523,GARD:0021161,GARD:0009535,Rare immune disease +GARD:0010927,GARD:0022531,GARD:0021453,GARD:0009535,Rare genetic disease +GARD:0010927,GARD:0022531,GARD:0022488,GARD:0008472,Rare genetic disease +GARD:0010927,GARD:0021079,GARD:0021453,GARD:0008472,Rare systemic or rheumatological disease of childhood +GARD:0010927,GARD:0022531,GARD:0022488,GARD:0009535,Rare genetic disease +GARD:0010927,GARD:0022510,GARD:0021162,GARD:0008472,Rare skin disease +GARD:0010927,GARD:0022531,GARD:0021453,GARD:0008472,Rare genetic disease +GARD:0010927,GARD:0022531,GARD:0021161,GARD:0022454,Rare genetic disease +GARD:0010927,GARD:0022531,GARD:0021161,GARD:0009535,Rare genetic disease +GARD:0010927,GARD:0021079,GARD:0021453,GARD:0022454,Rare systemic or rheumatological disease of childhood +GARD:0010927,GARD:0022531,GARD:0022488,GARD:0022454,Rare genetic disease +GARD:0010927,GARD:0022531,GARD:0021453,GARD:0022454,Rare genetic disease +GARD:0010929,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010929,GARD:0022506,GARD:0022393,,Rare hepatic disease +GARD:0010933,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0010933,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0010934,GARD:0022523,GARD:0019808,,Rare immune disease +GARD:0010934,GARD:0022531,GARD:0019808,,Rare genetic disease +GARD:0010935,GARD:0022513,GARD:0020835,,Rare developmental defect during embryogenesis +GARD:0010935,GARD:0022531,GARD:0020835,,Rare genetic disease +GARD:0010936,GARD:0022513,GARD:0020836,,Rare developmental defect during embryogenesis +GARD:0010936,GARD:0022531,GARD:0020836,,Rare genetic disease +GARD:0010937,GARD:0022531,GARD:0013388,,Rare genetic disease +GARD:0010937,GARD:0022524,GARD:0013388,,Rare neurologic disease +GARD:0010937,GARD:0022513,GARD:0013388,,Rare developmental defect during embryogenesis +GARD:0010937,GARD:0022521,GARD:0013388,,Rare endocrine disease +GARD:0010937,GARD:0022510,GARD:0013388,,Rare skin disease +GARD:0010938,GARD:0022520,GARD:0022092,,Rare ophthalmic disorder +GARD:0010938,GARD:0022513,GARD:0022092,,Rare developmental defect during embryogenesis +GARD:0010939,GARD:0022513,GARD:0022209,,Rare developmental defect during embryogenesis +GARD:0010939,GARD:0022511,GARD:0022021,,Rare bone disease +GARD:0010939,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0010939,GARD:0022513,GARD:0020465,,Rare developmental defect during embryogenesis +GARD:0010939,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0010939,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0010939,GARD:0022531,GARD:0022021,,Rare genetic disease +GARD:0010939,GARD:0022513,GARD:0022021,,Rare developmental defect during embryogenesis +GARD:0010939,GARD:0022531,GARD:0021922,,Rare genetic disease +GARD:0010939,GARD:0022531,GARD:0022209,,Rare genetic disease +GARD:0010939,GARD:0022527,GARD:0020465,,Rare circulatory system disease +GARD:0010939,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0010939,GARD:0022531,GARD:0020275,,Rare genetic disease +GARD:0010940,GARD:0022520,GARD:0022086,,Rare ophthalmic disorder +GARD:0010941,GARD:0022520,GARD:0019549,GARD:0021101,Rare ophthalmic disorder +GARD:0010941,GARD:0022520,GARD:0019549,GARD:0021098,Rare ophthalmic disorder +GARD:0010941,GARD:0022520,GARD:0019549,GARD:0021260,Rare ophthalmic disorder +GARD:0010941,GARD:0022520,GARD:0019549,GARD:0021067,Rare ophthalmic disorder +GARD:0010942,GARD:0022513,GARD:0019522,,Rare developmental defect during embryogenesis +GARD:0010942,GARD:0022531,GARD:0022189,,Rare genetic disease +GARD:0010942,GARD:0022520,GARD:0019522,,Rare ophthalmic disorder +GARD:0010943,GARD:0022531,GARD:0020821,,Rare genetic disease +GARD:0010943,GARD:0022513,GARD:0020821,,Rare developmental defect during embryogenesis +GARD:0010944,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0010944,GARD:0022531,GARD:0021344,,Rare genetic disease +GARD:0010944,GARD:0022508,GARD:0021344,,Rare inborn errors of metabolism +GARD:0010944,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0010945,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0010945,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0010945,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0010945,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0010946,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0010947,GARD:0022531,GARD:0020277,GARD:0015320,Rare genetic disease +GARD:0010947,GARD:0022510,GARD:0019018,GARD:0015827,Rare skin disease +GARD:0010947,GARD:0022510,GARD:0019018,GARD:0015828,Rare skin disease +GARD:0010947,GARD:0022531,GARD:0020277,GARD:0015827,Rare genetic disease +GARD:0010947,GARD:0022510,GARD:0019018,GARD:0015320,Rare skin disease +GARD:0010947,GARD:0022531,GARD:0020277,GARD:0015828,Rare genetic disease +GARD:0010948,GARD:0022512,GARD:0010353,,Rare renal disease +GARD:0010948,GARD:0022510,GARD:0010353,,Rare skin disease +GARD:0010948,GARD:0022531,GARD:0010353,,Rare genetic disease +GARD:0010948,GARD:0022508,GARD:0010353,,Rare inborn errors of metabolism +GARD:0010949,GARD:0022524,GARD:0018879,,Rare neurologic disease +GARD:0010951,GARD:0022525,GARD:0008231,,Rare systemic or rheumatologic disease +GARD:0010951,GARD:0022510,GARD:0008231,,Rare skin disease +GARD:0010954,GARD:0022508,GARD:0018947,GARD:0009151,Rare inborn errors of metabolism +GARD:0010954,GARD:0022531,GARD:0018947,GARD:0009151,Rare genetic disease +GARD:0010954,GARD:0022508,GARD:0018947,GARD:0005665,Rare inborn errors of metabolism +GARD:0010954,GARD:0022531,GARD:0018947,GARD:0005665,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019506,GARD:0010700,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019911,GARD:0016419,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022515,GARD:0020523,GARD:0010699,Rare cardiac disease +GARD:0010955,GARD:0022527,GARD:0022298,GARD:0009885,Rare circulatory system disease +GARD:0010955,GARD:0022531,GARD:0020233,GARD:0009885,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019218,GARD:0015693,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019911,GARD:0015693,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0020259,GARD:0009885,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022298,GARD:0016139,Rare genetic disease +GARD:0010955,GARD:0022512,GARD:0019218,GARD:0015949,Rare renal disease +GARD:0010955,GARD:0022531,GARD:0020259,GARD:0016369,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020523,GARD:0016357,Rare genetic disease +GARD:0010955,GARD:0022511,GARD:0019911,GARD:0010701,Rare bone disease +GARD:0010955,GARD:0022531,GARD:0022298,GARD:0010698,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0020259,GARD:0016139,Rare neoplastic disease +GARD:0010955,GARD:0022527,GARD:0022298,GARD:0015693,Rare circulatory system disease +GARD:0010955,GARD:0022531,GARD:0019218,GARD:0016137,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020259,GARD:0007223,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0021965,GARD:0015949,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019218,GARD:0010698,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022529,GARD:0020233,GARD:0007223,Rare infertility +GARD:0010955,GARD:0022513,GARD:0019507,GARD:0010701,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022519,GARD:0019561,GARD:0010698,Rare surgical cardiac disease +GARD:0010955,GARD:0022513,GARD:0022298,GARD:0010700,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0022461,GARD:0016139,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0020259,GARD:0010699,Rare neoplastic disease +GARD:0010955,GARD:0022535,GARD:0020259,GARD:0010698,Rare neoplastic disease +GARD:0010955,GARD:0022513,GARD:0019911,GARD:0016357,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022524,GARD:0019832,GARD:0016139,Rare neurologic disease +GARD:0010955,GARD:0022511,GARD:0019911,GARD:0016369,Rare bone disease +GARD:0010955,GARD:0022521,GARD:0020233,GARD:0010701,Rare endocrine disease +GARD:0010955,GARD:0022531,GARD:0019218,GARD:0016357,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019561,GARD:0009885,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020523,GARD:0016369,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019506,GARD:0009885,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019507,GARD:0016357,Rare genetic disease +GARD:0010955,GARD:0022536,GARD:0019218,GARD:0010698,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022521,GARD:0020233,GARD:0015949,Rare endocrine disease +GARD:0010955,GARD:0022513,GARD:0019506,GARD:0009885,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019832,GARD:0016369,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022521,GARD:0020233,GARD:0010699,Rare endocrine disease +GARD:0010955,GARD:0022513,GARD:0019506,GARD:0016139,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022524,GARD:0019832,GARD:0015693,Rare neurologic disease +GARD:0010955,GARD:0022531,GARD:0019911,GARD:0016419,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019911,GARD:0010699,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019561,GARD:0010698,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022527,GARD:0022298,GARD:0010698,Rare circulatory system disease +GARD:0010955,GARD:0022512,GARD:0019218,GARD:0016139,Rare renal disease +GARD:0010955,GARD:0022524,GARD:0021965,GARD:0016139,Rare neurologic disease +GARD:0010955,GARD:0022521,GARD:0020233,GARD:0016357,Rare endocrine disease +GARD:0010955,GARD:0022521,GARD:0020233,GARD:0010698,Rare endocrine disease +GARD:0010955,GARD:0022524,GARD:0021965,GARD:0009885,Rare neurologic disease +GARD:0010955,GARD:0022512,GARD:0019218,GARD:0016419,Rare renal disease +GARD:0010955,GARD:0022515,GARD:0020523,GARD:0016357,Rare cardiac disease +GARD:0010955,GARD:0022512,GARD:0019218,GARD:0009885,Rare renal disease +GARD:0010955,GARD:0022529,GARD:0020233,GARD:0010698,Rare infertility +GARD:0010955,GARD:0022531,GARD:0022461,GARD:0016357,Rare genetic disease +GARD:0010955,GARD:0022536,GARD:0019218,GARD:0009885,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022513,GARD:0019507,GARD:0016139,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0019561,GARD:0016369,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0021965,GARD:0016419,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020233,GARD:0016419,Rare genetic disease +GARD:0010955,GARD:0022515,GARD:0020523,GARD:0010700,Rare cardiac disease +GARD:0010955,GARD:0022520,GARD:0019507,GARD:0015949,Rare ophthalmic disorder +GARD:0010955,GARD:0022531,GARD:0020233,GARD:0016137,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0022461,GARD:0016369,Rare neoplastic disease +GARD:0010955,GARD:0022510,GARD:0022298,GARD:0009885,Rare skin disease +GARD:0010955,GARD:0022521,GARD:0020233,GARD:0016137,Rare endocrine disease +GARD:0010955,GARD:0022512,GARD:0019218,GARD:0016137,Rare renal disease +GARD:0010955,GARD:0022520,GARD:0019507,GARD:0009885,Rare ophthalmic disorder +GARD:0010955,GARD:0022520,GARD:0019507,GARD:0016137,Rare ophthalmic disorder +GARD:0010955,GARD:0022535,GARD:0020259,GARD:0016419,Rare neoplastic disease +GARD:0010955,GARD:0022536,GARD:0020523,GARD:0016137,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022519,GARD:0019561,GARD:0009885,Rare surgical cardiac disease +GARD:0010955,GARD:0022531,GARD:0022441,GARD:0015949,Rare genetic disease +GARD:0010955,GARD:0022536,GARD:0019218,GARD:0010701,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022521,GARD:0020233,GARD:0016369,Rare endocrine disease +GARD:0010955,GARD:0022527,GARD:0022298,GARD:0010701,Rare circulatory system disease +GARD:0010955,GARD:0022519,GARD:0019561,GARD:0007223,Rare surgical cardiac disease +GARD:0010955,GARD:0022520,GARD:0019506,GARD:0016139,Rare ophthalmic disorder +GARD:0010955,GARD:0022527,GARD:0022298,GARD:0016137,Rare circulatory system disease +GARD:0010955,GARD:0022531,GARD:0020259,GARD:0016419,Rare genetic disease +GARD:0010955,GARD:0022536,GARD:0019218,GARD:0016419,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022536,GARD:0019218,GARD:0016369,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022531,GARD:0019911,GARD:0016139,Rare genetic disease +GARD:0010955,GARD:0022524,GARD:0019832,GARD:0016357,Rare neurologic disease +GARD:0010955,GARD:0022531,GARD:0019218,GARD:0010699,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019506,GARD:0015949,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019911,GARD:0015949,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022441,GARD:0010698,Rare genetic disease +GARD:0010955,GARD:0022520,GARD:0019507,GARD:0016139,Rare ophthalmic disorder +GARD:0010955,GARD:0022529,GARD:0020233,GARD:0010701,Rare infertility +GARD:0010955,GARD:0022531,GARD:0019561,GARD:0015693,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019911,GARD:0007223,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0022298,GARD:0016369,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0019506,GARD:0010700,Rare genetic disease +GARD:0010955,GARD:0022520,GARD:0019507,GARD:0016369,Rare ophthalmic disorder +GARD:0010955,GARD:0022524,GARD:0019832,GARD:0010700,Rare neurologic disease +GARD:0010955,GARD:0022520,GARD:0019507,GARD:0010698,Rare ophthalmic disorder +GARD:0010955,GARD:0022524,GARD:0021965,GARD:0010698,Rare neurologic disease +GARD:0010955,GARD:0022531,GARD:0022461,GARD:0016369,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019911,GARD:0010698,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022524,GARD:0021965,GARD:0010700,Rare neurologic disease +GARD:0010955,GARD:0022535,GARD:0022461,GARD:0015693,Rare neoplastic disease +GARD:0010955,GARD:0022520,GARD:0019506,GARD:0016369,Rare ophthalmic disorder +GARD:0010955,GARD:0022531,GARD:0019561,GARD:0010698,Rare genetic disease +GARD:0010955,GARD:0022536,GARD:0020523,GARD:0015949,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022531,GARD:0019507,GARD:0016137,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019506,GARD:0010698,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022520,GARD:0019506,GARD:0015693,Rare ophthalmic disorder +GARD:0010955,GARD:0022527,GARD:0022298,GARD:0016139,Rare circulatory system disease +GARD:0010955,GARD:0022531,GARD:0020523,GARD:0015693,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0021965,GARD:0007223,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0020259,GARD:0016369,Rare neoplastic disease +GARD:0010955,GARD:0022515,GARD:0020523,GARD:0007223,Rare cardiac disease +GARD:0010955,GARD:0022520,GARD:0019506,GARD:0010701,Rare ophthalmic disorder +GARD:0010955,GARD:0022531,GARD:0019507,GARD:0016139,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0022461,GARD:0010701,Rare neoplastic disease +GARD:0010955,GARD:0022513,GARD:0019561,GARD:0009885,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0020523,GARD:0016137,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0020259,GARD:0016137,Rare neoplastic disease +GARD:0010955,GARD:0022531,GARD:0019218,GARD:0016419,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0022298,GARD:0010699,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0019218,GARD:0007223,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022461,GARD:0010698,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0022298,GARD:0015949,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0019218,GARD:0009885,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019911,GARD:0016137,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022515,GARD:0020523,GARD:0016139,Rare cardiac disease +GARD:0010955,GARD:0022524,GARD:0019832,GARD:0010699,Rare neurologic disease +GARD:0010955,GARD:0022531,GARD:0022441,GARD:0016369,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019832,GARD:0010700,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0022441,GARD:0016419,Rare genetic disease +GARD:0010955,GARD:0022519,GARD:0019561,GARD:0010699,Rare surgical cardiac disease +GARD:0010955,GARD:0022531,GARD:0022441,GARD:0009885,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019218,GARD:0010701,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019561,GARD:0016137,Rare genetic disease +GARD:0010955,GARD:0022524,GARD:0019832,GARD:0016419,Rare neurologic disease +GARD:0010955,GARD:0022527,GARD:0022298,GARD:0007223,Rare circulatory system disease +GARD:0010955,GARD:0022513,GARD:0019218,GARD:0010700,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019561,GARD:0010699,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0022298,GARD:0016419,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022515,GARD:0020523,GARD:0016369,Rare cardiac disease +GARD:0010955,GARD:0022515,GARD:0020523,GARD:0015949,Rare cardiac disease +GARD:0010955,GARD:0022531,GARD:0021965,GARD:0016357,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019911,GARD:0010699,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022524,GARD:0019832,GARD:0010701,Rare neurologic disease +GARD:0010955,GARD:0022531,GARD:0019911,GARD:0016357,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019911,GARD:0015693,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020259,GARD:0010700,Rare genetic disease +GARD:0010955,GARD:0022512,GARD:0019218,GARD:0016357,Rare renal disease +GARD:0010955,GARD:0022513,GARD:0019832,GARD:0016419,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022536,GARD:0020523,GARD:0010700,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022531,GARD:0022298,GARD:0016137,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019506,GARD:0015949,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019507,GARD:0016369,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0022441,GARD:0016139,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0020259,GARD:0015949,Rare neoplastic disease +GARD:0010955,GARD:0022524,GARD:0019832,GARD:0010698,Rare neurologic disease +GARD:0010955,GARD:0022527,GARD:0022298,GARD:0010700,Rare circulatory system disease +GARD:0010955,GARD:0022513,GARD:0019561,GARD:0016139,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019832,GARD:0016357,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022519,GARD:0019561,GARD:0010700,Rare surgical cardiac disease +GARD:0010955,GARD:0022531,GARD:0020523,GARD:0009885,Rare genetic disease +GARD:0010955,GARD:0022536,GARD:0019218,GARD:0010699,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022511,GARD:0019911,GARD:0010699,Rare bone disease +GARD:0010955,GARD:0022531,GARD:0022298,GARD:0016419,Rare genetic disease +GARD:0010955,GARD:0022515,GARD:0020523,GARD:0016419,Rare cardiac disease +GARD:0010955,GARD:0022529,GARD:0020233,GARD:0010699,Rare infertility +GARD:0010955,GARD:0022531,GARD:0019911,GARD:0010700,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020259,GARD:0010699,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022461,GARD:0007223,Rare genetic disease +GARD:0010955,GARD:0022515,GARD:0020523,GARD:0015693,Rare cardiac disease +GARD:0010955,GARD:0022513,GARD:0019832,GARD:0010701,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0019507,GARD:0009885,Rare genetic disease +GARD:0010955,GARD:0022536,GARD:0020523,GARD:0016139,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022512,GARD:0019218,GARD:0015693,Rare renal disease +GARD:0010955,GARD:0022531,GARD:0022298,GARD:0016369,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020233,GARD:0010701,Rare genetic disease +GARD:0010955,GARD:0022520,GARD:0019506,GARD:0015949,Rare ophthalmic disorder +GARD:0010955,GARD:0022535,GARD:0020259,GARD:0009885,Rare neoplastic disease +GARD:0010955,GARD:0022513,GARD:0019832,GARD:0010699,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022519,GARD:0019561,GARD:0016139,Rare surgical cardiac disease +GARD:0010955,GARD:0022527,GARD:0022298,GARD:0016369,Rare circulatory system disease +GARD:0010955,GARD:0022510,GARD:0022298,GARD:0010698,Rare skin disease +GARD:0010955,GARD:0022513,GARD:0022298,GARD:0010698,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0019507,GARD:0010700,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020523,GARD:0010701,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022298,GARD:0010699,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0020259,GARD:0015693,Rare neoplastic disease +GARD:0010955,GARD:0022536,GARD:0019218,GARD:0015693,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022513,GARD:0019218,GARD:0007223,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022519,GARD:0019561,GARD:0010701,Rare surgical cardiac disease +GARD:0010955,GARD:0022531,GARD:0019507,GARD:0016369,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0021965,GARD:0010698,Rare genetic disease +GARD:0010955,GARD:0022510,GARD:0022298,GARD:0016369,Rare skin disease +GARD:0010955,GARD:0022511,GARD:0019911,GARD:0010698,Rare bone disease +GARD:0010955,GARD:0022527,GARD:0022298,GARD:0015949,Rare circulatory system disease +GARD:0010955,GARD:0022531,GARD:0020523,GARD:0010699,Rare genetic disease +GARD:0010955,GARD:0022524,GARD:0021965,GARD:0016357,Rare neurologic disease +GARD:0010955,GARD:0022531,GARD:0022461,GARD:0015949,Rare genetic disease +GARD:0010955,GARD:0022520,GARD:0019507,GARD:0007223,Rare ophthalmic disorder +GARD:0010955,GARD:0022510,GARD:0022298,GARD:0010700,Rare skin disease +GARD:0010955,GARD:0022512,GARD:0019218,GARD:0010699,Rare renal disease +GARD:0010955,GARD:0022520,GARD:0019506,GARD:0010698,Rare ophthalmic disorder +GARD:0010955,GARD:0022531,GARD:0019218,GARD:0010698,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0021965,GARD:0010701,Rare genetic disease +GARD:0010955,GARD:0022519,GARD:0019561,GARD:0016419,Rare surgical cardiac disease +GARD:0010955,GARD:0022531,GARD:0020259,GARD:0010698,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019218,GARD:0015949,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0022298,GARD:0009885,Rare genetic disease +GARD:0010955,GARD:0022511,GARD:0019911,GARD:0007223,Rare bone disease +GARD:0010955,GARD:0022513,GARD:0019911,GARD:0010700,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0022298,GARD:0016137,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022520,GARD:0019507,GARD:0015693,Rare ophthalmic disorder +GARD:0010955,GARD:0022531,GARD:0019561,GARD:0015949,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022461,GARD:0010700,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019832,GARD:0010698,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0022441,GARD:0010699,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022461,GARD:0016419,Rare genetic disease +GARD:0010955,GARD:0022524,GARD:0021965,GARD:0007223,Rare neurologic disease +GARD:0010955,GARD:0022531,GARD:0020259,GARD:0015949,Rare genetic disease +GARD:0010955,GARD:0022536,GARD:0019218,GARD:0016137,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022513,GARD:0019218,GARD:0016137,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019561,GARD:0015949,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022524,GARD:0021965,GARD:0010699,Rare neurologic disease +GARD:0010955,GARD:0022529,GARD:0020233,GARD:0015693,Rare infertility +GARD:0010955,GARD:0022531,GARD:0019506,GARD:0016419,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0022461,GARD:0016139,Rare neoplastic disease +GARD:0010955,GARD:0022529,GARD:0020233,GARD:0009885,Rare infertility +GARD:0010955,GARD:0022520,GARD:0019507,GARD:0016419,Rare ophthalmic disorder +GARD:0010955,GARD:0022531,GARD:0019507,GARD:0010699,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020233,GARD:0010699,Rare genetic disease +GARD:0010955,GARD:0022511,GARD:0019911,GARD:0010700,Rare bone disease +GARD:0010955,GARD:0022524,GARD:0019832,GARD:0009885,Rare neurologic disease +GARD:0010955,GARD:0022535,GARD:0022461,GARD:0016137,Rare neoplastic disease +GARD:0010955,GARD:0022535,GARD:0022461,GARD:0007223,Rare neoplastic disease +GARD:0010955,GARD:0022510,GARD:0022298,GARD:0016139,Rare skin disease +GARD:0010955,GARD:0022520,GARD:0019507,GARD:0010701,Rare ophthalmic disorder +GARD:0010955,GARD:0022524,GARD:0019832,GARD:0015949,Rare neurologic disease +GARD:0010955,GARD:0022535,GARD:0022461,GARD:0015949,Rare neoplastic disease +GARD:0010955,GARD:0022531,GARD:0022298,GARD:0015693,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022461,GARD:0015693,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019506,GARD:0010701,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022536,GARD:0019218,GARD:0007223,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022513,GARD:0019506,GARD:0016357,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022535,GARD:0020259,GARD:0007223,Rare neoplastic disease +GARD:0010955,GARD:0022531,GARD:0019561,GARD:0007223,Rare genetic disease +GARD:0010955,GARD:0022511,GARD:0019911,GARD:0015949,Rare bone disease +GARD:0010955,GARD:0022531,GARD:0019218,GARD:0010700,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019561,GARD:0010700,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022298,GARD:0007223,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020233,GARD:0010700,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020259,GARD:0016137,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019507,GARD:0015949,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0022298,GARD:0010701,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022521,GARD:0020233,GARD:0016419,Rare endocrine disease +GARD:0010955,GARD:0022531,GARD:0020259,GARD:0016139,Rare genetic disease +GARD:0010955,GARD:0022510,GARD:0022298,GARD:0007223,Rare skin disease +GARD:0010955,GARD:0022520,GARD:0019506,GARD:0016357,Rare ophthalmic disorder +GARD:0010955,GARD:0022524,GARD:0021965,GARD:0016137,Rare neurologic disease +GARD:0010955,GARD:0022531,GARD:0020523,GARD:0010698,Rare genetic disease +GARD:0010955,GARD:0022536,GARD:0020523,GARD:0009885,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022513,GARD:0019218,GARD:0010699,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019561,GARD:0016357,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022511,GARD:0019911,GARD:0015693,Rare bone disease +GARD:0010955,GARD:0022513,GARD:0022298,GARD:0009885,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022524,GARD:0021965,GARD:0010701,Rare neurologic disease +GARD:0010955,GARD:0022531,GARD:0019218,GARD:0016139,Rare genetic disease +GARD:0010955,GARD:0022510,GARD:0022298,GARD:0010699,Rare skin disease +GARD:0010955,GARD:0022513,GARD:0019507,GARD:0009885,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022521,GARD:0020233,GARD:0016139,Rare endocrine disease +GARD:0010955,GARD:0022531,GARD:0019911,GARD:0016369,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019561,GARD:0010701,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0020259,GARD:0010700,Rare neoplastic disease +GARD:0010955,GARD:0022535,GARD:0022461,GARD:0016357,Rare neoplastic disease +GARD:0010955,GARD:0022513,GARD:0019911,GARD:0009885,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022515,GARD:0020523,GARD:0016137,Rare cardiac disease +GARD:0010955,GARD:0022529,GARD:0020233,GARD:0016419,Rare infertility +GARD:0010955,GARD:0022531,GARD:0019218,GARD:0015693,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019507,GARD:0015693,Rare genetic disease +GARD:0010955,GARD:0022536,GARD:0020523,GARD:0010699,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022531,GARD:0019506,GARD:0016139,Rare genetic disease +GARD:0010955,GARD:0022536,GARD:0020523,GARD:0016419,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022536,GARD:0020523,GARD:0010698,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022513,GARD:0019507,GARD:0007223,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0020259,GARD:0010701,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0021965,GARD:0016139,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0020259,GARD:0016357,Rare neoplastic disease +GARD:0010955,GARD:0022536,GARD:0020523,GARD:0015693,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022529,GARD:0020233,GARD:0016357,Rare infertility +GARD:0010955,GARD:0022531,GARD:0021965,GARD:0016369,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019911,GARD:0009885,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019911,GARD:0010701,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022515,GARD:0020523,GARD:0010698,Rare cardiac disease +GARD:0010955,GARD:0022519,GARD:0019561,GARD:0016357,Rare surgical cardiac disease +GARD:0010955,GARD:0022513,GARD:0019506,GARD:0015693,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019507,GARD:0010698,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022524,GARD:0021965,GARD:0016369,Rare neurologic disease +GARD:0010955,GARD:0022536,GARD:0019218,GARD:0010700,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022513,GARD:0019506,GARD:0007223,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019832,GARD:0016137,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0022298,GARD:0016357,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0022298,GARD:0007223,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022515,GARD:0020523,GARD:0010701,Rare cardiac disease +GARD:0010955,GARD:0022527,GARD:0022298,GARD:0016357,Rare circulatory system disease +GARD:0010955,GARD:0022531,GARD:0020233,GARD:0016369,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019561,GARD:0007223,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0022298,GARD:0016139,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022521,GARD:0020233,GARD:0015693,Rare endocrine disease +GARD:0010955,GARD:0022531,GARD:0020259,GARD:0016357,Rare genetic disease +GARD:0010955,GARD:0022511,GARD:0019911,GARD:0016137,Rare bone disease +GARD:0010955,GARD:0022527,GARD:0022298,GARD:0010699,Rare circulatory system disease +GARD:0010955,GARD:0022531,GARD:0020523,GARD:0016139,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0021965,GARD:0010699,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022441,GARD:0016357,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019507,GARD:0015693,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022527,GARD:0022298,GARD:0016419,Rare circulatory system disease +GARD:0010955,GARD:0022513,GARD:0019561,GARD:0016369,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0020233,GARD:0016357,Rare genetic disease +GARD:0010955,GARD:0022512,GARD:0019218,GARD:0007223,Rare renal disease +GARD:0010955,GARD:0022513,GARD:0022298,GARD:0015693,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0020523,GARD:0007223,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022441,GARD:0007223,Rare genetic disease +GARD:0010955,GARD:0022520,GARD:0019506,GARD:0016419,Rare ophthalmic disorder +GARD:0010955,GARD:0022536,GARD:0019218,GARD:0016139,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022536,GARD:0020523,GARD:0010701,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022513,GARD:0019506,GARD:0016369,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019507,GARD:0016357,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0022441,GARD:0015693,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019507,GARD:0015949,Rare genetic disease +GARD:0010955,GARD:0022536,GARD:0019218,GARD:0016357,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022510,GARD:0022298,GARD:0016357,Rare skin disease +GARD:0010955,GARD:0022531,GARD:0020523,GARD:0010700,Rare genetic disease +GARD:0010955,GARD:0022520,GARD:0019507,GARD:0010700,Rare ophthalmic disorder +GARD:0010955,GARD:0022531,GARD:0022461,GARD:0010701,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019832,GARD:0016139,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022529,GARD:0020233,GARD:0015949,Rare infertility +GARD:0010955,GARD:0022536,GARD:0020523,GARD:0016357,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022513,GARD:0019832,GARD:0015693,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022529,GARD:0020233,GARD:0016369,Rare infertility +GARD:0010955,GARD:0022531,GARD:0019911,GARD:0007223,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019561,GARD:0016139,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020523,GARD:0016419,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0020259,GARD:0010701,Rare neoplastic disease +GARD:0010955,GARD:0022531,GARD:0019506,GARD:0016369,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019506,GARD:0010699,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022519,GARD:0019561,GARD:0015949,Rare surgical cardiac disease +GARD:0010955,GARD:0022524,GARD:0021965,GARD:0015693,Rare neurologic disease +GARD:0010955,GARD:0022531,GARD:0019507,GARD:0007223,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019911,GARD:0016369,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0019218,GARD:0015949,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019561,GARD:0016357,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0022461,GARD:0016419,Rare neoplastic disease +GARD:0010955,GARD:0022531,GARD:0021965,GARD:0009885,Rare genetic disease +GARD:0010955,GARD:0022524,GARD:0019832,GARD:0016137,Rare neurologic disease +GARD:0010955,GARD:0022531,GARD:0020233,GARD:0015693,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019506,GARD:0016419,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019832,GARD:0007223,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022520,GARD:0019506,GARD:0010699,Rare ophthalmic disorder +GARD:0010955,GARD:0022513,GARD:0019561,GARD:0010701,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0019506,GARD:0010701,Rare genetic disease +GARD:0010955,GARD:0022520,GARD:0019506,GARD:0016137,Rare ophthalmic disorder +GARD:0010955,GARD:0022529,GARD:0020233,GARD:0016137,Rare infertility +GARD:0010955,GARD:0022531,GARD:0019507,GARD:0010701,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019911,GARD:0010701,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0022461,GARD:0009885,Rare neoplastic disease +GARD:0010955,GARD:0022531,GARD:0020523,GARD:0015949,Rare genetic disease +GARD:0010955,GARD:0022536,GARD:0020523,GARD:0007223,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022513,GARD:0019218,GARD:0016369,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022524,GARD:0019832,GARD:0007223,Rare neurologic disease +GARD:0010955,GARD:0022531,GARD:0022441,GARD:0010700,Rare genetic disease +GARD:0010955,GARD:0022512,GARD:0019218,GARD:0010701,Rare renal disease +GARD:0010955,GARD:0022531,GARD:0022461,GARD:0016137,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022441,GARD:0010701,Rare genetic disease +GARD:0010955,GARD:0022535,GARD:0022461,GARD:0010698,Rare neoplastic disease +GARD:0010955,GARD:0022510,GARD:0022298,GARD:0016137,Rare skin disease +GARD:0010955,GARD:0022511,GARD:0019911,GARD:0016419,Rare bone disease +GARD:0010955,GARD:0022513,GARD:0019218,GARD:0009885,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022520,GARD:0019506,GARD:0009885,Rare ophthalmic disorder +GARD:0010955,GARD:0022521,GARD:0020233,GARD:0010700,Rare endocrine disease +GARD:0010955,GARD:0022521,GARD:0020233,GARD:0009885,Rare endocrine disease +GARD:0010955,GARD:0022512,GARD:0019218,GARD:0016369,Rare renal disease +GARD:0010955,GARD:0022512,GARD:0019218,GARD:0010698,Rare renal disease +GARD:0010955,GARD:0022513,GARD:0019218,GARD:0016139,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019507,GARD:0010700,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022529,GARD:0020233,GARD:0016139,Rare infertility +GARD:0010955,GARD:0022510,GARD:0022298,GARD:0010701,Rare skin disease +GARD:0010955,GARD:0022513,GARD:0019507,GARD:0016137,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0019506,GARD:0010698,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019218,GARD:0016357,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0022461,GARD:0010699,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019561,GARD:0010699,Rare genetic disease +GARD:0010955,GARD:0022511,GARD:0019911,GARD:0009885,Rare bone disease +GARD:0010955,GARD:0022531,GARD:0019506,GARD:0015693,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019506,GARD:0010699,Rare genetic disease +GARD:0010955,GARD:0022524,GARD:0021965,GARD:0016419,Rare neurologic disease +GARD:0010955,GARD:0022513,GARD:0019561,GARD:0016137,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019911,GARD:0016139,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022520,GARD:0019506,GARD:0010700,Rare ophthalmic disorder +GARD:0010955,GARD:0022531,GARD:0019911,GARD:0016137,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020233,GARD:0007223,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019561,GARD:0016419,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019561,GARD:0015693,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022513,GARD:0019561,GARD:0010700,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0019506,GARD:0016357,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022298,GARD:0015949,Rare genetic disease +GARD:0010955,GARD:0022519,GARD:0019561,GARD:0015693,Rare surgical cardiac disease +GARD:0010955,GARD:0022520,GARD:0019507,GARD:0010699,Rare ophthalmic disorder +GARD:0010955,GARD:0022531,GARD:0022298,GARD:0010701,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019507,GARD:0016419,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022519,GARD:0019561,GARD:0016137,Rare surgical cardiac disease +GARD:0010955,GARD:0022531,GARD:0021965,GARD:0010700,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019218,GARD:0010701,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0022441,GARD:0016137,Rare genetic disease +GARD:0010955,GARD:0022512,GARD:0019218,GARD:0010700,Rare renal disease +GARD:0010955,GARD:0022513,GARD:0019911,GARD:0015949,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0019506,GARD:0016137,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020233,GARD:0016139,Rare genetic disease +GARD:0010955,GARD:0022529,GARD:0020233,GARD:0010700,Rare infertility +GARD:0010955,GARD:0022531,GARD:0021965,GARD:0015693,Rare genetic disease +GARD:0010955,GARD:0022510,GARD:0022298,GARD:0015949,Rare skin disease +GARD:0010955,GARD:0022515,GARD:0020523,GARD:0009885,Rare cardiac disease +GARD:0010955,GARD:0022511,GARD:0019911,GARD:0016139,Rare bone disease +GARD:0010955,GARD:0022524,GARD:0019832,GARD:0016369,Rare neurologic disease +GARD:0010955,GARD:0022535,GARD:0022461,GARD:0010699,Rare neoplastic disease +GARD:0010955,GARD:0022513,GARD:0019507,GARD:0010699,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0019506,GARD:0007223,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020233,GARD:0015949,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0020233,GARD:0010698,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019218,GARD:0016419,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0019911,GARD:0010698,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0021965,GARD:0016137,Rare genetic disease +GARD:0010955,GARD:0022513,GARD:0019832,GARD:0015949,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022524,GARD:0021965,GARD:0015949,Rare neurologic disease +GARD:0010955,GARD:0022531,GARD:0019561,GARD:0016419,Rare genetic disease +GARD:0010955,GARD:0022520,GARD:0019506,GARD:0007223,Rare ophthalmic disorder +GARD:0010955,GARD:0022520,GARD:0019507,GARD:0016357,Rare ophthalmic disorder +GARD:0010955,GARD:0022519,GARD:0019561,GARD:0016369,Rare surgical cardiac disease +GARD:0010955,GARD:0022531,GARD:0020259,GARD:0015693,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022298,GARD:0010700,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022461,GARD:0009885,Rare genetic disease +GARD:0010955,GARD:0022536,GARD:0019218,GARD:0015949,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022536,GARD:0020523,GARD:0016369,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010955,GARD:0022513,GARD:0019506,GARD:0016137,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022531,GARD:0019507,GARD:0016419,Rare genetic disease +GARD:0010955,GARD:0022510,GARD:0022298,GARD:0016419,Rare skin disease +GARD:0010955,GARD:0022513,GARD:0019832,GARD:0009885,Rare developmental defect during embryogenesis +GARD:0010955,GARD:0022521,GARD:0020233,GARD:0007223,Rare endocrine disease +GARD:0010955,GARD:0022535,GARD:0022461,GARD:0010700,Rare neoplastic disease +GARD:0010955,GARD:0022510,GARD:0022298,GARD:0015693,Rare skin disease +GARD:0010955,GARD:0022511,GARD:0019911,GARD:0016357,Rare bone disease +GARD:0010955,GARD:0022531,GARD:0019218,GARD:0016369,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0019507,GARD:0010698,Rare genetic disease +GARD:0010955,GARD:0022531,GARD:0022298,GARD:0016357,Rare genetic disease +GARD:0010956,GARD:0022523,GARD:0021510,GARD:0017594,Rare immune disease +GARD:0010956,GARD:0022523,GARD:0021510,GARD:0022467,Rare immune disease +GARD:0010956,GARD:0022531,GARD:0021510,GARD:0007182,Rare genetic disease +GARD:0010956,GARD:0022531,GARD:0021510,GARD:0006800,Rare genetic disease +GARD:0010956,GARD:0022523,GARD:0021510,GARD:0006800,Rare immune disease +GARD:0010956,GARD:0022531,GARD:0021510,GARD:0017594,Rare genetic disease +GARD:0010956,GARD:0022523,GARD:0021510,GARD:0007182,Rare immune disease +GARD:0010956,GARD:0022531,GARD:0021510,GARD:0022467,Rare genetic disease +GARD:0010956,GARD:0022523,GARD:0021510,GARD:0004331,Rare immune disease +GARD:0010956,GARD:0022531,GARD:0021510,GARD:0004331,Rare genetic disease +GARD:0010957,GARD:0022522,GARD:0019452,,Rare hematologic disease +GARD:0010957,GARD:0022531,GARD:0019452,,Rare genetic disease +GARD:0010958,GARD:0022531,GARD:0020271,GARD:0018017,Rare genetic disease +GARD:0010958,GARD:0022531,GARD:0021528,GARD:0004039,Rare genetic disease +GARD:0010958,GARD:0022508,GARD:0021528,GARD:0004037,Rare inborn errors of metabolism +GARD:0010958,GARD:0022531,GARD:0021528,GARD:0016722,Rare genetic disease +GARD:0010958,GARD:0022508,GARD:0021528,GARD:0018017,Rare inborn errors of metabolism +GARD:0010958,GARD:0022510,GARD:0019005,GARD:0018017,Rare skin disease +GARD:0010958,GARD:0022520,GARD:0019548,GARD:0004038,Rare ophthalmic disorder +GARD:0010958,GARD:0022531,GARD:0020271,GARD:0017599,Rare genetic disease +GARD:0010958,GARD:0022531,GARD:0021528,GARD:0017599,Rare genetic disease +GARD:0010958,GARD:0022531,GARD:0019548,GARD:0004038,Rare genetic disease +GARD:0010958,GARD:0022531,GARD:0019548,GARD:0017599,Rare genetic disease +GARD:0010958,GARD:0022520,GARD:0019548,GARD:0017599,Rare ophthalmic disorder +GARD:0010958,GARD:0022510,GARD:0019005,GARD:0017599,Rare skin disease +GARD:0010958,GARD:0022531,GARD:0021528,GARD:0017598,Rare genetic disease +GARD:0010958,GARD:0022520,GARD:0019548,GARD:0004037,Rare ophthalmic disorder +GARD:0010958,GARD:0022531,GARD:0020271,GARD:0016722,Rare genetic disease +GARD:0010958,GARD:0022531,GARD:0021528,GARD:0018017,Rare genetic disease +GARD:0010958,GARD:0022531,GARD:0019548,GARD:0017598,Rare genetic disease +GARD:0010958,GARD:0022508,GARD:0021528,GARD:0004038,Rare inborn errors of metabolism +GARD:0010958,GARD:0022510,GARD:0019005,GARD:0004037,Rare skin disease +GARD:0010958,GARD:0022510,GARD:0019005,GARD:0004039,Rare skin disease +GARD:0010958,GARD:0022531,GARD:0020271,GARD:0017531,Rare genetic disease +GARD:0010958,GARD:0022520,GARD:0019548,GARD:0017598,Rare ophthalmic disorder +GARD:0010958,GARD:0022531,GARD:0020271,GARD:0004038,Rare genetic disease +GARD:0010958,GARD:0022531,GARD:0019548,GARD:0004039,Rare genetic disease +GARD:0010958,GARD:0022510,GARD:0019005,GARD:0017598,Rare skin disease +GARD:0010958,GARD:0022531,GARD:0020271,GARD:0004039,Rare genetic disease +GARD:0010958,GARD:0022520,GARD:0019548,GARD:0018017,Rare ophthalmic disorder +GARD:0010958,GARD:0022510,GARD:0019005,GARD:0004038,Rare skin disease +GARD:0010958,GARD:0022508,GARD:0021528,GARD:0016722,Rare inborn errors of metabolism +GARD:0010958,GARD:0022520,GARD:0019548,GARD:0017531,Rare ophthalmic disorder +GARD:0010958,GARD:0022531,GARD:0019548,GARD:0004037,Rare genetic disease +GARD:0010958,GARD:0022510,GARD:0019005,GARD:0016722,Rare skin disease +GARD:0010958,GARD:0022508,GARD:0021528,GARD:0017531,Rare inborn errors of metabolism +GARD:0010958,GARD:0022531,GARD:0019548,GARD:0016722,Rare genetic disease +GARD:0010958,GARD:0022508,GARD:0021528,GARD:0017599,Rare inborn errors of metabolism +GARD:0010958,GARD:0022510,GARD:0019005,GARD:0017531,Rare skin disease +GARD:0010958,GARD:0022531,GARD:0021528,GARD:0004037,Rare genetic disease +GARD:0010958,GARD:0022520,GARD:0019548,GARD:0016722,Rare ophthalmic disorder +GARD:0010958,GARD:0022531,GARD:0020271,GARD:0017598,Rare genetic disease +GARD:0010958,GARD:0022531,GARD:0021528,GARD:0004038,Rare genetic disease +GARD:0010958,GARD:0022508,GARD:0021528,GARD:0004039,Rare inborn errors of metabolism +GARD:0010958,GARD:0022531,GARD:0019548,GARD:0018017,Rare genetic disease +GARD:0010958,GARD:0022508,GARD:0021528,GARD:0017598,Rare inborn errors of metabolism +GARD:0010958,GARD:0022531,GARD:0019548,GARD:0017531,Rare genetic disease +GARD:0010958,GARD:0022531,GARD:0021528,GARD:0017531,Rare genetic disease +GARD:0010958,GARD:0022520,GARD:0019548,GARD:0004039,Rare ophthalmic disorder +GARD:0010958,GARD:0022531,GARD:0020271,GARD:0004037,Rare genetic disease +GARD:0010959,GARD:0022521,GARD:0019680,,Rare endocrine disease +GARD:0010959,GARD:0022535,GARD:0019680,,Rare neoplastic disease +GARD:0010962,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0010964,GARD:0022523,GARD:0016642,,Rare immune disease +GARD:0010964,GARD:0022536,GARD:0016642,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010965,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0010965,GARD:0022513,GARD:0019196,,Rare developmental defect during embryogenesis +GARD:0010965,GARD:0022511,GARD:0019196,,Rare bone disease +GARD:0010965,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0010965,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0010965,GARD:0022531,GARD:0019196,,Rare genetic disease +GARD:0010966,GARD:0022536,GARD:0018677,GARD:0016382,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010966,GARD:0022517,GARD:0018677,GARD:0016382,Rare respiratory disease +GARD:0010966,GARD:0022525,GARD:0018677,GARD:0016382,Rare systemic or rheumatologic disease +GARD:0010966,GARD:0021079,GARD:0018677,GARD:0016382,Rare systemic or rheumatological disease of childhood +GARD:0010969,GARD:0022525,GARD:0018677,,Rare systemic or rheumatologic disease +GARD:0010969,GARD:0022520,GARD:0021101,,Rare ophthalmic disorder +GARD:0010969,GARD:0022536,GARD:0018677,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010969,GARD:0022517,GARD:0018677,,Rare respiratory disease +GARD:0010969,GARD:0021079,GARD:0018677,,Rare systemic or rheumatological disease of childhood +GARD:0010970,GARD:0022525,GARD:0018677,,Rare systemic or rheumatologic disease +GARD:0010970,GARD:0021079,GARD:0018677,,Rare systemic or rheumatological disease of childhood +GARD:0010970,GARD:0022536,GARD:0018677,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010970,GARD:0022517,GARD:0018677,,Rare respiratory disease +GARD:0010972,GARD:0022513,GARD:0020836,,Rare developmental defect during embryogenesis +GARD:0010972,GARD:0022531,GARD:0020836,,Rare genetic disease +GARD:0010973,GARD:0022531,GARD:0019491,GARD:0006845,Rare genetic disease +GARD:0010973,GARD:0022520,GARD:0022108,GARD:0017426,Rare ophthalmic disorder +GARD:0010973,GARD:0022524,GARD:0010739,GARD:0001219,Rare neurologic disease +GARD:0010973,GARD:0022524,GARD:0010739,GARD:0001224,Rare neurologic disease +GARD:0010973,GARD:0022524,GARD:0007140,GARD:0001218,Rare neurologic disease +GARD:0010973,GARD:0022531,GARD:0007140,GARD:0017426,Rare genetic disease +GARD:0010973,GARD:0022508,GARD:0010739,GARD:0001219,Rare inborn errors of metabolism +GARD:0010973,GARD:0022508,GARD:0010739,GARD:0001218,Rare inborn errors of metabolism +GARD:0010973,GARD:0022524,GARD:0010739,GARD:0001218,Rare neurologic disease +GARD:0010973,GARD:0022531,GARD:0010739,GARD:0006845,Rare genetic disease +GARD:0010973,GARD:0022520,GARD:0022108,GARD:0001222,Rare ophthalmic disorder +GARD:0010973,GARD:0022508,GARD:0010739,GARD:0017527,Rare inborn errors of metabolism +GARD:0010973,GARD:0022520,GARD:0022108,GARD:0001219,Rare ophthalmic disorder +GARD:0010973,GARD:0022531,GARD:0019491,GARD:0001218,Rare genetic disease +GARD:0010973,GARD:0022524,GARD:0010739,GARD:0006845,Rare neurologic disease +GARD:0010973,GARD:0022508,GARD:0010739,GARD:0001222,Rare inborn errors of metabolism +GARD:0010973,GARD:0022531,GARD:0007140,GARD:0001218,Rare genetic disease +GARD:0010973,GARD:0022531,GARD:0022108,GARD:0017426,Rare genetic disease +GARD:0010973,GARD:0022531,GARD:0007140,GARD:0017527,Rare genetic disease +GARD:0010973,GARD:0022531,GARD:0019491,GARD:0017426,Rare genetic disease +GARD:0010973,GARD:0022531,GARD:0019491,GARD:0017527,Rare genetic disease +GARD:0010973,GARD:0022508,GARD:0010739,GARD:0001224,Rare inborn errors of metabolism +GARD:0010973,GARD:0022531,GARD:0010739,GARD:0017426,Rare genetic disease +GARD:0010973,GARD:0022524,GARD:0010739,GARD:0017527,Rare neurologic disease +GARD:0010973,GARD:0022531,GARD:0022108,GARD:0017527,Rare genetic disease +GARD:0010973,GARD:0022524,GARD:0007140,GARD:0017426,Rare neurologic disease +GARD:0010973,GARD:0022531,GARD:0010739,GARD:0001218,Rare genetic disease +GARD:0010973,GARD:0022524,GARD:0019491,GARD:0001224,Rare neurologic disease +GARD:0010973,GARD:0022531,GARD:0010739,GARD:0017527,Rare genetic disease +GARD:0010973,GARD:0022508,GARD:0010739,GARD:0006845,Rare inborn errors of metabolism +GARD:0010973,GARD:0022524,GARD:0019491,GARD:0017527,Rare neurologic disease +GARD:0010973,GARD:0022531,GARD:0007140,GARD:0001224,Rare genetic disease +GARD:0010973,GARD:0022524,GARD:0007140,GARD:0001222,Rare neurologic disease +GARD:0010973,GARD:0022531,GARD:0022108,GARD:0006845,Rare genetic disease +GARD:0010973,GARD:0022531,GARD:0022108,GARD:0001224,Rare genetic disease +GARD:0010973,GARD:0022524,GARD:0010739,GARD:0001222,Rare neurologic disease +GARD:0010973,GARD:0022531,GARD:0007140,GARD:0001222,Rare genetic disease +GARD:0010973,GARD:0022524,GARD:0007140,GARD:0001219,Rare neurologic disease +GARD:0010973,GARD:0022531,GARD:0019491,GARD:0001222,Rare genetic disease +GARD:0010973,GARD:0022524,GARD:0019491,GARD:0001219,Rare neurologic disease +GARD:0010973,GARD:0022520,GARD:0022108,GARD:0017527,Rare ophthalmic disorder +GARD:0010973,GARD:0022508,GARD:0010739,GARD:0017426,Rare inborn errors of metabolism +GARD:0010973,GARD:0022531,GARD:0010739,GARD:0001222,Rare genetic disease +GARD:0010973,GARD:0022531,GARD:0010739,GARD:0001224,Rare genetic disease +GARD:0010973,GARD:0022531,GARD:0019491,GARD:0001219,Rare genetic disease +GARD:0010973,GARD:0022524,GARD:0007140,GARD:0001224,Rare neurologic disease +GARD:0010973,GARD:0022524,GARD:0019491,GARD:0017426,Rare neurologic disease +GARD:0010973,GARD:0022531,GARD:0007140,GARD:0001219,Rare genetic disease +GARD:0010973,GARD:0022520,GARD:0022108,GARD:0001224,Rare ophthalmic disorder +GARD:0010973,GARD:0022524,GARD:0019491,GARD:0006845,Rare neurologic disease +GARD:0010973,GARD:0022524,GARD:0007140,GARD:0017527,Rare neurologic disease +GARD:0010973,GARD:0022531,GARD:0022108,GARD:0001222,Rare genetic disease +GARD:0010973,GARD:0022524,GARD:0019491,GARD:0001218,Rare neurologic disease +GARD:0010973,GARD:0022524,GARD:0010739,GARD:0017426,Rare neurologic disease +GARD:0010973,GARD:0022520,GARD:0022108,GARD:0006845,Rare ophthalmic disorder +GARD:0010973,GARD:0022531,GARD:0007140,GARD:0006845,Rare genetic disease +GARD:0010973,GARD:0022531,GARD:0010739,GARD:0001219,Rare genetic disease +GARD:0010973,GARD:0022531,GARD:0022108,GARD:0001219,Rare genetic disease +GARD:0010973,GARD:0022531,GARD:0022108,GARD:0001218,Rare genetic disease +GARD:0010973,GARD:0022520,GARD:0022108,GARD:0001218,Rare ophthalmic disorder +GARD:0010973,GARD:0022524,GARD:0007140,GARD:0006845,Rare neurologic disease +GARD:0010973,GARD:0022524,GARD:0019491,GARD:0001222,Rare neurologic disease +GARD:0010973,GARD:0022531,GARD:0019491,GARD:0001224,Rare genetic disease +GARD:0010974,GARD:0022531,GARD:0010768,,Rare genetic disease +GARD:0010974,GARD:0022524,GARD:0010768,,Rare neurologic disease +GARD:0010977,GARD:0022531,GARD:0021005,GARD:0010710,Rare genetic disease +GARD:0010977,GARD:0022524,GARD:0020088,GARD:0010710,Rare neurologic disease +GARD:0010977,GARD:0022531,GARD:0021005,GARD:0017590,Rare genetic disease +GARD:0010977,GARD:0022524,GARD:0020088,GARD:0010705,Rare neurologic disease +GARD:0010977,GARD:0022513,GARD:0019483,GARD:0017680,Rare developmental defect during embryogenesis +GARD:0010977,GARD:0022531,GARD:0020088,GARD:0017590,Rare genetic disease +GARD:0010977,GARD:0022513,GARD:0019483,GARD:0010710,Rare developmental defect during embryogenesis +GARD:0010977,GARD:0022531,GARD:0021005,GARD:0018032,Rare genetic disease +GARD:0010977,GARD:0022524,GARD:0019483,GARD:0010704,Rare neurologic disease +GARD:0010977,GARD:0022513,GARD:0019483,GARD:0017315,Rare developmental defect during embryogenesis +GARD:0010977,GARD:0022531,GARD:0021005,GARD:0017315,Rare genetic disease +GARD:0010977,GARD:0022531,GARD:0021005,GARD:0000343,Rare genetic disease +GARD:0010977,GARD:0022531,GARD:0021005,GARD:0010705,Rare genetic disease +GARD:0010977,GARD:0022524,GARD:0020088,GARD:0017590,Rare neurologic disease +GARD:0010977,GARD:0022513,GARD:0019483,GARD:0018031,Rare developmental defect during embryogenesis +GARD:0010977,GARD:0022531,GARD:0020088,GARD:0010710,Rare genetic disease +GARD:0010977,GARD:0022531,GARD:0021005,GARD:0018030,Rare genetic disease +GARD:0010977,GARD:0022531,GARD:0021005,GARD:0018031,Rare genetic disease +GARD:0010977,GARD:0022513,GARD:0019483,GARD:0017488,Rare developmental defect during embryogenesis +GARD:0010977,GARD:0022524,GARD:0019483,GARD:0010708,Rare neurologic disease +GARD:0010977,GARD:0022524,GARD:0019483,GARD:0017488,Rare neurologic disease +GARD:0010977,GARD:0022531,GARD:0020088,GARD:0018032,Rare genetic disease +GARD:0010977,GARD:0022524,GARD:0020088,GARD:0018031,Rare neurologic disease +GARD:0010977,GARD:0022524,GARD:0019483,GARD:0018030,Rare neurologic disease +GARD:0010977,GARD:0022513,GARD:0019483,GARD:0010705,Rare developmental defect during embryogenesis +GARD:0010977,GARD:0022531,GARD:0020088,GARD:0000343,Rare genetic disease +GARD:0010977,GARD:0022524,GARD:0019483,GARD:0018029,Rare neurologic disease +GARD:0010977,GARD:0022524,GARD:0019483,GARD:0010710,Rare neurologic disease +GARD:0010977,GARD:0022513,GARD:0019483,GARD:0010704,Rare developmental defect during embryogenesis +GARD:0010977,GARD:0022531,GARD:0020088,GARD:0017680,Rare genetic disease +GARD:0010977,GARD:0022531,GARD:0020088,GARD:0010704,Rare genetic disease +GARD:0010977,GARD:0022513,GARD:0019483,GARD:0018030,Rare developmental defect during embryogenesis +GARD:0010977,GARD:0022524,GARD:0020088,GARD:0010708,Rare neurologic disease +GARD:0010977,GARD:0022531,GARD:0020088,GARD:0010705,Rare genetic disease +GARD:0010977,GARD:0022531,GARD:0020088,GARD:0017315,Rare genetic disease +GARD:0010977,GARD:0022513,GARD:0019483,GARD:0018032,Rare developmental defect during embryogenesis +GARD:0010977,GARD:0022513,GARD:0019483,GARD:0017590,Rare developmental defect during embryogenesis +GARD:0010977,GARD:0022531,GARD:0020088,GARD:0018029,Rare genetic disease +GARD:0010977,GARD:0022524,GARD:0019483,GARD:0017315,Rare neurologic disease +GARD:0010977,GARD:0022524,GARD:0020088,GARD:0017488,Rare neurologic disease +GARD:0010977,GARD:0022524,GARD:0020088,GARD:0018032,Rare neurologic disease +GARD:0010977,GARD:0022531,GARD:0020088,GARD:0010708,Rare genetic disease +GARD:0010977,GARD:0022524,GARD:0020088,GARD:0018030,Rare neurologic disease +GARD:0010977,GARD:0022524,GARD:0020088,GARD:0017315,Rare neurologic disease +GARD:0010977,GARD:0022524,GARD:0019483,GARD:0010705,Rare neurologic disease +GARD:0010977,GARD:0022531,GARD:0021005,GARD:0010704,Rare genetic disease +GARD:0010977,GARD:0022531,GARD:0021005,GARD:0017488,Rare genetic disease +GARD:0010977,GARD:0022524,GARD:0019483,GARD:0018031,Rare neurologic disease +GARD:0010977,GARD:0022524,GARD:0020088,GARD:0010704,Rare neurologic disease +GARD:0010977,GARD:0022524,GARD:0019483,GARD:0018032,Rare neurologic disease +GARD:0010977,GARD:0022513,GARD:0019483,GARD:0010708,Rare developmental defect during embryogenesis +GARD:0010977,GARD:0022513,GARD:0019483,GARD:0018029,Rare developmental defect during embryogenesis +GARD:0010977,GARD:0022524,GARD:0020088,GARD:0018029,Rare neurologic disease +GARD:0010977,GARD:0022531,GARD:0021005,GARD:0018029,Rare genetic disease +GARD:0010977,GARD:0022524,GARD:0019483,GARD:0017680,Rare neurologic disease +GARD:0010977,GARD:0022524,GARD:0019483,GARD:0000343,Rare neurologic disease +GARD:0010977,GARD:0022531,GARD:0020088,GARD:0017488,Rare genetic disease +GARD:0010977,GARD:0022531,GARD:0020088,GARD:0018031,Rare genetic disease +GARD:0010977,GARD:0022524,GARD:0019483,GARD:0017590,Rare neurologic disease +GARD:0010977,GARD:0022524,GARD:0020088,GARD:0000343,Rare neurologic disease +GARD:0010977,GARD:0022531,GARD:0021005,GARD:0017680,Rare genetic disease +GARD:0010977,GARD:0022513,GARD:0019483,GARD:0000343,Rare developmental defect during embryogenesis +GARD:0010977,GARD:0022524,GARD:0020088,GARD:0017680,Rare neurologic disease +GARD:0010977,GARD:0022531,GARD:0021005,GARD:0010708,Rare genetic disease +GARD:0010977,GARD:0022531,GARD:0020088,GARD:0018030,Rare genetic disease +GARD:0010980,GARD:0022521,GARD:0020136,,Rare endocrine disease +GARD:0010980,GARD:0022521,GARD:0020215,,Rare endocrine disease +GARD:0010980,GARD:0022521,GARD:0021116,,Rare endocrine disease +GARD:0010981,GARD:0022531,GARD:0021039,,Rare genetic disease +GARD:0010981,GARD:0022524,GARD:0019484,,Rare neurologic disease +GARD:0010981,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0010981,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0010983,GARD:0022510,GARD:0018989,GARD:0015551,Rare skin disease +GARD:0010983,GARD:0022531,GARD:0020264,GARD:0009505,Rare genetic disease +GARD:0010983,GARD:0022510,GARD:0018989,GARD:0015552,Rare skin disease +GARD:0010983,GARD:0022510,GARD:0018989,GARD:0016146,Rare skin disease +GARD:0010983,GARD:0022510,GARD:0018989,GARD:0015838,Rare skin disease +GARD:0010983,GARD:0022531,GARD:0020264,GARD:0015551,Rare genetic disease +GARD:0010983,GARD:0022531,GARD:0020264,GARD:0015838,Rare genetic disease +GARD:0010983,GARD:0022531,GARD:0020264,GARD:0016146,Rare genetic disease +GARD:0010983,GARD:0022510,GARD:0018989,GARD:0009504,Rare skin disease +GARD:0010983,GARD:0022531,GARD:0020264,GARD:0015552,Rare genetic disease +GARD:0010983,GARD:0022510,GARD:0018989,GARD:0016056,Rare skin disease +GARD:0010983,GARD:0022531,GARD:0020264,GARD:0009504,Rare genetic disease +GARD:0010983,GARD:0022510,GARD:0018989,GARD:0009505,Rare skin disease +GARD:0010983,GARD:0022531,GARD:0020264,GARD:0016056,Rare genetic disease +GARD:0010984,GARD:0022531,GARD:0021422,,Rare genetic disease +GARD:0010984,GARD:0022523,GARD:0021422,,Rare immune disease +GARD:0010985,GARD:0022515,GARD:0020534,GARD:0015952,Rare cardiac disease +GARD:0010985,GARD:0022531,GARD:0021240,GARD:0015956,Rare genetic disease +GARD:0010985,GARD:0022531,GARD:0021969,GARD:0015952,Rare genetic disease +GARD:0010985,GARD:0022531,GARD:0021969,GARD:0015460,Rare genetic disease +GARD:0010985,GARD:0022531,GARD:0021240,GARD:0015460,Rare genetic disease +GARD:0010985,GARD:0022515,GARD:0020534,GARD:0015956,Rare cardiac disease +GARD:0010985,GARD:0022531,GARD:0021969,GARD:0015906,Rare genetic disease +GARD:0010985,GARD:0022531,GARD:0021240,GARD:0015952,Rare genetic disease +GARD:0010985,GARD:0022531,GARD:0021969,GARD:0015956,Rare genetic disease +GARD:0010985,GARD:0022531,GARD:0021240,GARD:0015906,Rare genetic disease +GARD:0010985,GARD:0022515,GARD:0020534,GARD:0015460,Rare cardiac disease +GARD:0010985,GARD:0022515,GARD:0020534,GARD:0015906,Rare cardiac disease +GARD:0010986,GARD:0022510,GARD:0020166,,Rare skin disease +GARD:0010986,GARD:0022522,GARD:0020166,,Rare hematologic disease +GARD:0010986,GARD:0022535,GARD:0020166,,Rare neoplastic disease +GARD:0010986,GARD:0022536,GARD:0020166,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0010989,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0010989,GARD:0022531,GARD:0012597,,Rare genetic disease +GARD:0010989,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0010989,GARD:0022521,GARD:0012597,,Rare endocrine disease +GARD:0010989,GARD:0022531,GARD:0019017,,Rare genetic disease +GARD:0010989,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0010989,GARD:0022510,GARD:0019017,,Rare skin disease +GARD:0010989,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0010989,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0010989,GARD:0022510,GARD:0012597,,Rare skin disease +GARD:0010991,GARD:0022513,GARD:0020819,,Rare developmental defect during embryogenesis +GARD:0010991,GARD:0022531,GARD:0020819,,Rare genetic disease +GARD:0010992,GARD:0022531,GARD:0021403,,Rare genetic disease +GARD:0010992,GARD:0022524,GARD:0021403,,Rare neurologic disease +GARD:0010992,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0010992,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0010994,GARD:0022531,GARD:0022399,,Rare genetic disease +GARD:0010994,GARD:0022511,GARD:0022399,,Rare bone disease +GARD:0010994,GARD:0022532,GARD:0022399,,Rare urogenital disease +GARD:0010994,GARD:0022524,GARD:0022399,,Rare neurologic disease +GARD:0010994,GARD:0022513,GARD:0022399,,Rare developmental defect during embryogenesis +GARD:0010995,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0010995,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0010995,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0010996,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010996,GARD:0022531,GARD:0020817,,Rare genetic disease +GARD:0010996,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010996,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010996,GARD:0022513,GARD:0020817,,Rare developmental defect during embryogenesis +GARD:0010997,GARD:0022525,GARD:0021129,,Rare systemic or rheumatologic disease +GARD:0010997,GARD:0022518,GARD:0021130,,Rare surgical thoracic disease +GARD:0010997,GARD:0022531,GARD:0021129,,Rare genetic disease +GARD:0010997,GARD:0022531,GARD:0021130,,Rare genetic disease +GARD:0010997,GARD:0022527,GARD:0021130,,Rare circulatory system disease +GARD:0010998,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0010998,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0010998,GARD:0022531,GARD:0020822,,Rare genetic disease +GARD:0010998,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0010998,GARD:0022513,GARD:0020822,,Rare developmental defect during embryogenesis +GARD:0010998,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0010998,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0010999,GARD:0022531,GARD:0019772,GARD:0015749,Rare genetic disease +GARD:0010999,GARD:0022524,GARD:0019772,GARD:0015750,Rare neurologic disease +GARD:0010999,GARD:0022524,GARD:0022440,GARD:0015592,Rare neurologic disease +GARD:0010999,GARD:0022524,GARD:0022440,GARD:0015750,Rare neurologic disease +GARD:0010999,GARD:0022524,GARD:0022440,GARD:0013737,Rare neurologic disease +GARD:0010999,GARD:0022531,GARD:0022440,GARD:0015750,Rare genetic disease +GARD:0010999,GARD:0022531,GARD:0019772,GARD:0013737,Rare genetic disease +GARD:0010999,GARD:0022531,GARD:0019772,GARD:0015592,Rare genetic disease +GARD:0010999,GARD:0022524,GARD:0019772,GARD:0013737,Rare neurologic disease +GARD:0010999,GARD:0022524,GARD:0019772,GARD:0015592,Rare neurologic disease +GARD:0010999,GARD:0022531,GARD:0019772,GARD:0015750,Rare genetic disease +GARD:0010999,GARD:0022531,GARD:0022440,GARD:0015592,Rare genetic disease +GARD:0010999,GARD:0022531,GARD:0022440,GARD:0015749,Rare genetic disease +GARD:0010999,GARD:0022524,GARD:0022440,GARD:0015749,Rare neurologic disease +GARD:0010999,GARD:0022524,GARD:0019772,GARD:0015749,Rare neurologic disease +GARD:0010999,GARD:0022531,GARD:0022440,GARD:0013737,Rare genetic disease +GARD:0011000,GARD:0022531,GARD:0021131,,Rare genetic disease +GARD:0011000,GARD:0022508,GARD:0021131,,Rare inborn errors of metabolism +GARD:0011000,GARD:0022531,GARD:0019463,,Rare genetic disease +GARD:0011000,GARD:0022522,GARD:0019463,,Rare hematologic disease +GARD:0011000,GARD:0022531,GARD:0020559,,Rare genetic disease +GARD:0011000,GARD:0022524,GARD:0020559,,Rare neurologic disease +GARD:0011003,GARD:0022531,GARD:0019228,,Rare genetic disease +GARD:0011003,GARD:0022512,GARD:0019228,,Rare renal disease +GARD:0011003,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0011004,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0011004,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0011005,GARD:0022524,GARD:0021553,,Rare neurologic disease +GARD:0011006,GARD:0022524,GARD:0007180,,Rare neurologic disease +GARD:0011006,GARD:0022535,GARD:0007180,,Rare neoplastic disease +GARD:0011007,GARD:0022510,GARD:0021235,,Rare skin disease +GARD:0011007,GARD:0022535,GARD:0021235,,Rare neoplastic disease +GARD:0011008,GARD:0022511,GARD:0019204,,Rare bone disease +GARD:0011008,GARD:0022510,GARD:0019017,,Rare skin disease +GARD:0011008,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0011008,GARD:0022521,GARD:0012597,,Rare endocrine disease +GARD:0011008,GARD:0022513,GARD:0019204,,Rare developmental defect during embryogenesis +GARD:0011008,GARD:0022531,GARD:0012597,,Rare genetic disease +GARD:0011008,GARD:0022510,GARD:0012597,,Rare skin disease +GARD:0011008,GARD:0022531,GARD:0019204,,Rare genetic disease +GARD:0011008,GARD:0022531,GARD:0019017,,Rare genetic disease +GARD:0011008,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0011009,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0011009,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0011009,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0011010,GARD:0022524,GARD:0019923,,Rare neurologic disease +GARD:0011010,GARD:0022531,GARD:0019923,,Rare genetic disease +GARD:0011011,GARD:0022524,GARD:0020409,,Rare neurologic disease +GARD:0011855,GARD:0022535,GARD:0021370,,Rare neoplastic disease +GARD:0011855,GARD:0022526,GARD:0021370,,Rare odontologic disease +GARD:0011890,GARD:0022531,GARD:0020382,GARD:0007917,Rare genetic disease +GARD:0011890,GARD:0022524,GARD:0020382,GARD:0000559,Rare neurologic disease +GARD:0011890,GARD:0022524,GARD:0018890,GARD:0004648,Rare neurologic disease +GARD:0011890,GARD:0022524,GARD:0006895,GARD:0007917,Rare neurologic disease +GARD:0011890,GARD:0022531,GARD:0019790,GARD:0000559,Rare genetic disease +GARD:0011890,GARD:0022520,GARD:0019538,GARD:0004648,Rare ophthalmic disorder +GARD:0011890,GARD:0022531,GARD:0019538,GARD:0000559,Rare genetic disease +GARD:0011890,GARD:0022508,GARD:0018885,GARD:0000559,Rare inborn errors of metabolism +GARD:0011890,GARD:0022531,GARD:0020382,GARD:0000559,Rare genetic disease +GARD:0011890,GARD:0022531,GARD:0019538,GARD:0007917,Rare genetic disease +GARD:0011890,GARD:0022531,GARD:0018885,GARD:0007917,Rare genetic disease +GARD:0011890,GARD:0022520,GARD:0019538,GARD:0007917,Rare ophthalmic disorder +GARD:0011890,GARD:0022531,GARD:0019538,GARD:0004648,Rare genetic disease +GARD:0011890,GARD:0022531,GARD:0020382,GARD:0004648,Rare genetic disease +GARD:0011890,GARD:0022506,GARD:0019790,GARD:0004648,Rare hepatic disease +GARD:0011890,GARD:0022506,GARD:0019790,GARD:0007917,Rare hepatic disease +GARD:0011890,GARD:0022524,GARD:0020382,GARD:0004648,Rare neurologic disease +GARD:0011890,GARD:0022531,GARD:0018890,GARD:0000559,Rare genetic disease +GARD:0011890,GARD:0022520,GARD:0019538,GARD:0000559,Rare ophthalmic disorder +GARD:0011890,GARD:0022524,GARD:0020382,GARD:0007917,Rare neurologic disease +GARD:0011890,GARD:0022531,GARD:0006895,GARD:0000559,Rare genetic disease +GARD:0011890,GARD:0022524,GARD:0006895,GARD:0004648,Rare neurologic disease +GARD:0011890,GARD:0022508,GARD:0018885,GARD:0007917,Rare inborn errors of metabolism +GARD:0011890,GARD:0022531,GARD:0019790,GARD:0004648,Rare genetic disease +GARD:0011890,GARD:0022506,GARD:0019790,GARD:0000559,Rare hepatic disease +GARD:0011890,GARD:0022531,GARD:0006895,GARD:0004648,Rare genetic disease +GARD:0011890,GARD:0022531,GARD:0006895,GARD:0007917,Rare genetic disease +GARD:0011890,GARD:0022531,GARD:0019790,GARD:0007917,Rare genetic disease +GARD:0011890,GARD:0022531,GARD:0018890,GARD:0004648,Rare genetic disease +GARD:0011890,GARD:0022531,GARD:0018885,GARD:0004648,Rare genetic disease +GARD:0011890,GARD:0022524,GARD:0006895,GARD:0000559,Rare neurologic disease +GARD:0011890,GARD:0022524,GARD:0018890,GARD:0000559,Rare neurologic disease +GARD:0011890,GARD:0022531,GARD:0018885,GARD:0000559,Rare genetic disease +GARD:0011890,GARD:0022524,GARD:0018890,GARD:0007917,Rare neurologic disease +GARD:0011890,GARD:0022531,GARD:0018890,GARD:0007917,Rare genetic disease +GARD:0011890,GARD:0022508,GARD:0018885,GARD:0004648,Rare inborn errors of metabolism +GARD:0011892,GARD:0022527,GARD:0020464,,Rare circulatory system disease +GARD:0011892,GARD:0022513,GARD:0020464,,Rare developmental defect during embryogenesis +GARD:0011892,GARD:0022524,GARD:0019819,,Rare neurologic disease +GARD:0011892,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0011893,GARD:0022531,GARD:0019204,GARD:0009989,Rare genetic disease +GARD:0011893,GARD:0022531,GARD:0019204,GARD:0003374,Rare genetic disease +GARD:0011893,GARD:0022531,GARD:0012597,GARD:0003374,Rare genetic disease +GARD:0011893,GARD:0022531,GARD:0022170,GARD:0003374,Rare genetic disease +GARD:0011893,GARD:0022531,GARD:0012597,GARD:0009989,Rare genetic disease +GARD:0011893,GARD:0022513,GARD:0019833,GARD:0003374,Rare developmental defect during embryogenesis +GARD:0011893,GARD:0022520,GARD:0019527,GARD:0009989,Rare ophthalmic disorder +GARD:0011893,GARD:0022513,GARD:0019906,GARD:0009989,Rare developmental defect during embryogenesis +GARD:0011893,GARD:0022531,GARD:0021507,GARD:0003374,Rare genetic disease +GARD:0011893,GARD:0022521,GARD:0012597,GARD:0003374,Rare endocrine disease +GARD:0011893,GARD:0022531,GARD:0021507,GARD:0009989,Rare genetic disease +GARD:0011893,GARD:0022511,GARD:0019204,GARD:0009989,Rare bone disease +GARD:0011893,GARD:0022511,GARD:0019204,GARD:0003374,Rare bone disease +GARD:0011893,GARD:0022521,GARD:0012597,GARD:0009989,Rare endocrine disease +GARD:0011893,GARD:0022513,GARD:0019833,GARD:0009989,Rare developmental defect during embryogenesis +GARD:0011893,GARD:0022513,GARD:0019204,GARD:0009989,Rare developmental defect during embryogenesis +GARD:0011893,GARD:0022513,GARD:0019204,GARD:0003374,Rare developmental defect during embryogenesis +GARD:0011893,GARD:0022513,GARD:0019906,GARD:0003374,Rare developmental defect during embryogenesis +GARD:0011893,GARD:0022531,GARD:0021543,GARD:0003374,Rare genetic disease +GARD:0011893,GARD:0022520,GARD:0019527,GARD:0003374,Rare ophthalmic disorder +GARD:0011893,GARD:0022531,GARD:0022170,GARD:0009989,Rare genetic disease +GARD:0011893,GARD:0022510,GARD:0012597,GARD:0003374,Rare skin disease +GARD:0011893,GARD:0022510,GARD:0012597,GARD:0009989,Rare skin disease +GARD:0011893,GARD:0022531,GARD:0021543,GARD:0009989,Rare genetic disease +GARD:0011894,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0011894,GARD:0022517,GARD:0022517,,Rare respiratory disease +GARD:0011895,GARD:0022520,GARD:0022090,,Rare ophthalmic disorder +GARD:0011897,GARD:0022520,GARD:0022099,GARD:0010119,Rare ophthalmic disorder +GARD:0011897,GARD:0022520,GARD:0022099,GARD:0001462,Rare ophthalmic disorder +GARD:0011897,GARD:0022520,GARD:0022099,GARD:0003196,Rare ophthalmic disorder +GARD:0011897,GARD:0022531,GARD:0019989,GARD:0003196,Rare genetic disease +GARD:0011897,GARD:0022520,GARD:0022099,GARD:0016449,Rare ophthalmic disorder +GARD:0011897,GARD:0022520,GARD:0022099,GARD:0015342,Rare ophthalmic disorder +GARD:0011897,GARD:0022531,GARD:0019989,GARD:0015342,Rare genetic disease +GARD:0011897,GARD:0022531,GARD:0022099,GARD:0016449,Rare genetic disease +GARD:0011897,GARD:0022531,GARD:0022099,GARD:0003196,Rare genetic disease +GARD:0011897,GARD:0022531,GARD:0019989,GARD:0001462,Rare genetic disease +GARD:0011897,GARD:0022531,GARD:0019989,GARD:0010119,Rare genetic disease +GARD:0011897,GARD:0022531,GARD:0019989,GARD:0016449,Rare genetic disease +GARD:0011897,GARD:0022531,GARD:0022099,GARD:0001462,Rare genetic disease +GARD:0011897,GARD:0022531,GARD:0022099,GARD:0010119,Rare genetic disease +GARD:0011897,GARD:0022531,GARD:0022099,GARD:0015342,Rare genetic disease +GARD:0011898,GARD:0022510,GARD:0020744,,Rare skin disease +GARD:0011899,GARD:0022531,GARD:0018890,GARD:0012571,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0021285,GARD:0012567,Rare genetic disease +GARD:0011899,GARD:0022524,GARD:0018890,GARD:0005592,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0021267,GARD:0005592,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0021267,GARD:0006564,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0021267,GARD:0009499,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0018890,GARD:0010686,Rare neurologic disease +GARD:0011899,GARD:0022531,GARD:0021285,GARD:0012571,Rare genetic disease +GARD:0011899,GARD:0022524,GARD:0021267,GARD:0010686,Rare neurologic disease +GARD:0011899,GARD:0022531,GARD:0021039,GARD:0006564,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0018890,GARD:0012570,Rare genetic disease +GARD:0011899,GARD:0022524,GARD:0019484,GARD:0012570,Rare neurologic disease +GARD:0011899,GARD:0022531,GARD:0021039,GARD:0012570,Rare genetic disease +GARD:0011899,GARD:0022524,GARD:0021267,GARD:0012570,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0021267,GARD:0010810,Rare neurologic disease +GARD:0011899,GARD:0022531,GARD:0021039,GARD:0012569,Rare genetic disease +GARD:0011899,GARD:0022524,GARD:0019484,GARD:0010810,Rare neurologic disease +GARD:0011899,GARD:0022531,GARD:0021039,GARD:0005592,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0021285,GARD:0012570,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0021039,GARD:0009174,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0018890,GARD:0012567,Rare genetic disease +GARD:0011899,GARD:0022524,GARD:0018890,GARD:0009174,Rare neurologic disease +GARD:0011899,GARD:0022531,GARD:0021285,GARD:0012569,Rare genetic disease +GARD:0011899,GARD:0022524,GARD:0018890,GARD:0012567,Rare neurologic disease +GARD:0011899,GARD:0022531,GARD:0021285,GARD:0017914,Rare genetic disease +GARD:0011899,GARD:0022524,GARD:0021267,GARD:0012569,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0018890,GARD:0012570,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0018890,GARD:0012569,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0019484,GARD:0009174,Rare neurologic disease +GARD:0011899,GARD:0022531,GARD:0018890,GARD:0012569,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0021039,GARD:0012567,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0021039,GARD:0012571,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0021285,GARD:0009499,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0021039,GARD:0010686,Rare genetic disease +GARD:0011899,GARD:0022524,GARD:0018890,GARD:0006564,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0019484,GARD:0005592,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0018890,GARD:0009499,Rare neurologic disease +GARD:0011899,GARD:0022531,GARD:0021039,GARD:0009499,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0021285,GARD:0005592,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0018890,GARD:0006564,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0021039,GARD:0010810,Rare genetic disease +GARD:0011899,GARD:0022524,GARD:0021267,GARD:0012571,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0019484,GARD:0012567,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0019484,GARD:0012571,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0021267,GARD:0017914,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0019484,GARD:0012569,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0018890,GARD:0017914,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0019484,GARD:0017914,Rare neurologic disease +GARD:0011899,GARD:0022531,GARD:0018890,GARD:0010810,Rare genetic disease +GARD:0011899,GARD:0022524,GARD:0021267,GARD:0012567,Rare neurologic disease +GARD:0011899,GARD:0022531,GARD:0021285,GARD:0010686,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0018890,GARD:0010686,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0018890,GARD:0005592,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0021285,GARD:0010810,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0018890,GARD:0009499,Rare genetic disease +GARD:0011899,GARD:0022524,GARD:0019484,GARD:0009499,Rare neurologic disease +GARD:0011899,GARD:0022531,GARD:0018890,GARD:0009174,Rare genetic disease +GARD:0011899,GARD:0022524,GARD:0021267,GARD:0009174,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0018890,GARD:0012571,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0018890,GARD:0010810,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0019484,GARD:0006564,Rare neurologic disease +GARD:0011899,GARD:0022524,GARD:0019484,GARD:0010686,Rare neurologic disease +GARD:0011899,GARD:0022531,GARD:0018890,GARD:0017914,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0021039,GARD:0017914,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0021285,GARD:0006564,Rare genetic disease +GARD:0011899,GARD:0022531,GARD:0021285,GARD:0009174,Rare genetic disease +GARD:0011901,GARD:0022524,GARD:0019478,GARD:0015343,Rare neurologic disease +GARD:0011901,GARD:0022531,GARD:0019478,GARD:0015794,Rare genetic disease +GARD:0011901,GARD:0022524,GARD:0019478,GARD:0015794,Rare neurologic disease +GARD:0011901,GARD:0022531,GARD:0019478,GARD:0015137,Rare genetic disease +GARD:0011901,GARD:0022531,GARD:0019478,GARD:0015343,Rare genetic disease +GARD:0011901,GARD:0022524,GARD:0019478,GARD:0015137,Rare neurologic disease +GARD:0011902,GARD:0022531,GARD:0019475,GARD:0015023,Rare genetic disease +GARD:0011902,GARD:0022513,GARD:0019507,GARD:0015023,Rare developmental defect during embryogenesis +GARD:0011902,GARD:0022531,GARD:0019475,GARD:0017539,Rare genetic disease +GARD:0011902,GARD:0022520,GARD:0022118,GARD:0015023,Rare ophthalmic disorder +GARD:0011902,GARD:0022531,GARD:0019507,GARD:0015023,Rare genetic disease +GARD:0011902,GARD:0022531,GARD:0019475,GARD:0016872,Rare genetic disease +GARD:0011902,GARD:0022531,GARD:0019507,GARD:0017539,Rare genetic disease +GARD:0011902,GARD:0022531,GARD:0019507,GARD:0016872,Rare genetic disease +GARD:0011902,GARD:0022520,GARD:0022118,GARD:0016872,Rare ophthalmic disorder +GARD:0011902,GARD:0022513,GARD:0019507,GARD:0016872,Rare developmental defect during embryogenesis +GARD:0011902,GARD:0022520,GARD:0019507,GARD:0016872,Rare ophthalmic disorder +GARD:0011902,GARD:0022520,GARD:0022118,GARD:0017539,Rare ophthalmic disorder +GARD:0011902,GARD:0022520,GARD:0019507,GARD:0017539,Rare ophthalmic disorder +GARD:0011902,GARD:0022531,GARD:0022158,GARD:0016872,Rare genetic disease +GARD:0011902,GARD:0022520,GARD:0019507,GARD:0015022,Rare ophthalmic disorder +GARD:0011902,GARD:0022531,GARD:0022158,GARD:0017539,Rare genetic disease +GARD:0011902,GARD:0022524,GARD:0019475,GARD:0017539,Rare neurologic disease +GARD:0011902,GARD:0022531,GARD:0022158,GARD:0015023,Rare genetic disease +GARD:0011902,GARD:0022531,GARD:0019507,GARD:0015022,Rare genetic disease +GARD:0011902,GARD:0022524,GARD:0019475,GARD:0015022,Rare neurologic disease +GARD:0011902,GARD:0022513,GARD:0019507,GARD:0017539,Rare developmental defect during embryogenesis +GARD:0011902,GARD:0022520,GARD:0022118,GARD:0015022,Rare ophthalmic disorder +GARD:0011902,GARD:0022524,GARD:0019475,GARD:0015023,Rare neurologic disease +GARD:0011902,GARD:0022531,GARD:0019475,GARD:0015022,Rare genetic disease +GARD:0011902,GARD:0022513,GARD:0019507,GARD:0015022,Rare developmental defect during embryogenesis +GARD:0011902,GARD:0022524,GARD:0019475,GARD:0016872,Rare neurologic disease +GARD:0011902,GARD:0022520,GARD:0019507,GARD:0015023,Rare ophthalmic disorder +GARD:0011902,GARD:0022531,GARD:0022158,GARD:0015022,Rare genetic disease +GARD:0011903,GARD:0022531,GARD:0020118,,Rare genetic disease +GARD:0011903,GARD:0022523,GARD:0020118,,Rare immune disease +GARD:0011904,GARD:0022536,GARD:0022064,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0011904,GARD:0022531,GARD:0020459,,Rare genetic disease +GARD:0011904,GARD:0022531,GARD:0022213,,Rare genetic disease +GARD:0011904,GARD:0022527,GARD:0020461,,Rare circulatory system disease +GARD:0011904,GARD:0022513,GARD:0020461,,Rare developmental defect during embryogenesis +GARD:0011906,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0011906,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0011907,GARD:0022522,GARD:0012760,,Rare hematologic disease +GARD:0011907,GARD:0022535,GARD:0012760,,Rare neoplastic disease +GARD:0011907,GARD:0022536,GARD:0012760,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0011908,GARD:0022509,GARD:0018757,,Rare infectious disease +GARD:0011910,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0011910,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0011910,GARD:0022531,GARD:0021243,,Rare genetic disease +GARD:0011911,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0011911,GARD:0022513,GARD:0020834,,Rare developmental defect during embryogenesis +GARD:0011911,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0011911,GARD:0022531,GARD:0020834,,Rare genetic disease +GARD:0011911,GARD:0022531,GARD:0021676,,Rare genetic disease +GARD:0011911,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0011911,GARD:0022529,GARD:0021676,,Rare infertility +GARD:0011914,GARD:0022517,GARD:0016531,GARD:0018394,Rare respiratory disease +GARD:0011914,GARD:0022531,GARD:0016531,GARD:0018394,Rare genetic disease +GARD:0011914,GARD:0022536,GARD:0016531,GARD:0018394,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0011915,GARD:0022531,GARD:0021123,,Rare genetic disease +GARD:0011915,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0011915,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0011918,GARD:0022531,GARD:0019571,GARD:0015352,Rare genetic disease +GARD:0011918,GARD:0022531,GARD:0002173,GARD:0015352,Rare genetic disease +GARD:0011918,GARD:0022531,GARD:0019571,GARD:0015891,Rare genetic disease +GARD:0011918,GARD:0022531,GARD:0002173,GARD:0015380,Rare genetic disease +GARD:0011918,GARD:0022531,GARD:0002173,GARD:0015891,Rare genetic disease +GARD:0011918,GARD:0022531,GARD:0002173,GARD:0015319,Rare genetic disease +GARD:0011918,GARD:0022531,GARD:0019573,GARD:0015380,Rare genetic disease +GARD:0011918,GARD:0022524,GARD:0002173,GARD:0015380,Rare neurologic disease +GARD:0011918,GARD:0022531,GARD:0019573,GARD:0015891,Rare genetic disease +GARD:0011918,GARD:0022531,GARD:0019571,GARD:0015481,Rare genetic disease +GARD:0011918,GARD:0022524,GARD:0002173,GARD:0015481,Rare neurologic disease +GARD:0011918,GARD:0022531,GARD:0019571,GARD:0015380,Rare genetic disease +GARD:0011918,GARD:0022524,GARD:0002173,GARD:0015352,Rare neurologic disease +GARD:0011918,GARD:0022531,GARD:0019571,GARD:0015319,Rare genetic disease +GARD:0011918,GARD:0022531,GARD:0019573,GARD:0015481,Rare genetic disease +GARD:0011918,GARD:0022524,GARD:0002173,GARD:0015319,Rare neurologic disease +GARD:0011918,GARD:0022531,GARD:0002173,GARD:0015481,Rare genetic disease +GARD:0011918,GARD:0022531,GARD:0019573,GARD:0015319,Rare genetic disease +GARD:0011918,GARD:0022524,GARD:0002173,GARD:0015891,Rare neurologic disease +GARD:0011918,GARD:0022531,GARD:0019573,GARD:0015352,Rare genetic disease +GARD:0011923,GARD:0022521,GARD:0019768,,Rare endocrine disease +GARD:0011923,GARD:0022535,GARD:0019768,,Rare neoplastic disease +GARD:0011923,GARD:0022532,GARD:0019402,,Rare urogenital disease +GARD:0011923,GARD:0022535,GARD:0019402,,Rare neoplastic disease +GARD:0011925,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0011925,GARD:0022531,GARD:0000101,,Rare genetic disease +GARD:0011925,GARD:0022531,GARD:0020401,,Rare genetic disease +GARD:0011925,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0011925,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0011925,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0011925,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0011925,GARD:0022524,GARD:0000101,,Rare neurologic disease +GARD:0011927,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0011927,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0011927,GARD:0022531,GARD:0019928,,Rare genetic disease +GARD:0011927,GARD:0022524,GARD:0019928,,Rare neurologic disease +GARD:0011927,GARD:0022531,GARD:0021039,,Rare genetic disease +GARD:0011927,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0011927,GARD:0022524,GARD:0019484,,Rare neurologic disease +GARD:0011951,GARD:0022535,GARD:0004898,GARD:0021165,Rare neoplastic disease +GARD:0011951,GARD:0022524,GARD:0020375,GARD:0021165,Rare neurologic disease +GARD:0011951,GARD:0022524,GARD:0020375,GARD:0004702,Rare neurologic disease +GARD:0011951,GARD:0022524,GARD:0020375,GARD:0004701,Rare neurologic disease +GARD:0011951,GARD:0022535,GARD:0004898,GARD:0004702,Rare neoplastic disease +GARD:0011951,GARD:0022535,GARD:0004898,GARD:0004701,Rare neoplastic disease +GARD:0011953,GARD:0022522,GARD:0020548,GARD:0020133,Rare hematologic disease +GARD:0011953,GARD:0022535,GARD:0020548,GARD:0020133,Rare neoplastic disease +GARD:0011953,GARD:0022535,GARD:0020548,GARD:0000522,Rare neoplastic disease +GARD:0011953,GARD:0022522,GARD:0020548,GARD:0000522,Rare hematologic disease +GARD:0011953,GARD:0022536,GARD:0020548,GARD:0020133,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0011953,GARD:0022522,GARD:0020548,GARD:0020132,Rare hematologic disease +GARD:0011953,GARD:0022536,GARD:0020548,GARD:0000522,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0011953,GARD:0022536,GARD:0020548,GARD:0020132,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0011953,GARD:0022535,GARD:0020548,GARD:0020132,Rare neoplastic disease +GARD:0011962,GARD:0022531,GARD:0012597,GARD:0013125,Rare genetic disease +GARD:0011962,GARD:0022521,GARD:0012597,GARD:0003126,Rare endocrine disease +GARD:0011962,GARD:0022510,GARD:0012597,GARD:0003126,Rare skin disease +GARD:0011962,GARD:0022510,GARD:0012597,GARD:0012600,Rare skin disease +GARD:0011962,GARD:0022531,GARD:0012597,GARD:0013126,Rare genetic disease +GARD:0011962,GARD:0022531,GARD:0012597,GARD:0012600,Rare genetic disease +GARD:0011962,GARD:0022510,GARD:0012597,GARD:0012601,Rare skin disease +GARD:0011962,GARD:0022531,GARD:0012597,GARD:0012599,Rare genetic disease +GARD:0011962,GARD:0022510,GARD:0012597,GARD:0013125,Rare skin disease +GARD:0011962,GARD:0022521,GARD:0012597,GARD:0012598,Rare endocrine disease +GARD:0011962,GARD:0022510,GARD:0012597,GARD:0013126,Rare skin disease +GARD:0011962,GARD:0022521,GARD:0012597,GARD:0013126,Rare endocrine disease +GARD:0011962,GARD:0022521,GARD:0012597,GARD:0012599,Rare endocrine disease +GARD:0011962,GARD:0022521,GARD:0012597,GARD:0012600,Rare endocrine disease +GARD:0011962,GARD:0022531,GARD:0012597,GARD:0003126,Rare genetic disease +GARD:0011962,GARD:0022510,GARD:0012597,GARD:0012599,Rare skin disease +GARD:0011962,GARD:0022510,GARD:0012597,GARD:0012598,Rare skin disease +GARD:0011962,GARD:0022521,GARD:0012597,GARD:0012601,Rare endocrine disease +GARD:0011962,GARD:0022531,GARD:0012597,GARD:0012601,Rare genetic disease +GARD:0011962,GARD:0022531,GARD:0012597,GARD:0012598,Rare genetic disease +GARD:0011962,GARD:0022510,GARD:0012597,GARD:0021080,Rare skin disease +GARD:0011962,GARD:0022521,GARD:0012597,GARD:0013125,Rare endocrine disease +GARD:0011962,GARD:0022531,GARD:0012597,GARD:0021080,Rare genetic disease +GARD:0011962,GARD:0022521,GARD:0012597,GARD:0021080,Rare endocrine disease +GARD:0011971,GARD:0022534,GARD:0022534,,Rare abdominal surgical disease +GARD:0011971,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0011971,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0011971,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0011972,GARD:0022520,GARD:0019540,GARD:0020686,Rare ophthalmic disorder +GARD:0011972,GARD:0022531,GARD:0019540,GARD:0020686,Rare genetic disease +GARD:0011972,GARD:0022531,GARD:0020764,GARD:0010203,Rare genetic disease +GARD:0011972,GARD:0022531,GARD:0019540,GARD:0005243,Rare genetic disease +GARD:0011972,GARD:0022531,GARD:0019540,GARD:0010203,Rare genetic disease +GARD:0011972,GARD:0022531,GARD:0020764,GARD:0020686,Rare genetic disease +GARD:0011972,GARD:0022508,GARD:0020764,GARD:0010203,Rare inborn errors of metabolism +GARD:0011972,GARD:0022531,GARD:0019540,GARD:0009890,Rare genetic disease +GARD:0011972,GARD:0022531,GARD:0020764,GARD:0005243,Rare genetic disease +GARD:0011972,GARD:0022531,GARD:0020764,GARD:0009890,Rare genetic disease +GARD:0011972,GARD:0022508,GARD:0020764,GARD:0009890,Rare inborn errors of metabolism +GARD:0011972,GARD:0022520,GARD:0019540,GARD:0009890,Rare ophthalmic disorder +GARD:0011972,GARD:0022508,GARD:0020764,GARD:0020686,Rare inborn errors of metabolism +GARD:0011972,GARD:0022508,GARD:0020764,GARD:0005243,Rare inborn errors of metabolism +GARD:0011972,GARD:0022520,GARD:0019540,GARD:0010203,Rare ophthalmic disorder +GARD:0011972,GARD:0022520,GARD:0019540,GARD:0005243,Rare ophthalmic disorder +GARD:0011973,GARD:0022536,GARD:0020133,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0011973,GARD:0022522,GARD:0020133,,Rare hematologic disease +GARD:0011973,GARD:0022535,GARD:0020133,,Rare neoplastic disease +GARD:0011974,GARD:0022531,GARD:0020823,,Rare genetic disease +GARD:0011974,GARD:0022513,GARD:0020823,,Rare developmental defect during embryogenesis +GARD:0011979,GARD:0022524,GARD:0019357,GARD:0022500,Rare neurologic disease +GARD:0011979,GARD:0022524,GARD:0019357,GARD:0022499,Rare neurologic disease +GARD:0011979,GARD:0022524,GARD:0019357,GARD:0022492,Rare neurologic disease +GARD:0011979,GARD:0022524,GARD:0019357,GARD:0022498,Rare neurologic disease +GARD:0011979,GARD:0022524,GARD:0019357,GARD:0008570,Rare neurologic disease +GARD:0011979,GARD:0022524,GARD:0019357,GARD:0022501,Rare neurologic disease +GARD:0011979,GARD:0022524,GARD:0019357,GARD:0018944,Rare neurologic disease +GARD:0011979,GARD:0022524,GARD:0019357,GARD:0008639,Rare neurologic disease +GARD:0011979,GARD:0022524,GARD:0019357,GARD:0022494,Rare neurologic disease +GARD:0011979,GARD:0022524,GARD:0019357,GARD:0020513,Rare neurologic disease +GARD:0011979,GARD:0022524,GARD:0019357,GARD:0022497,Rare neurologic disease +GARD:0011980,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0011980,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0011980,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0011980,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0011980,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0011980,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0011982,GARD:0022531,GARD:0020304,GARD:0017507,Rare genetic disease +GARD:0011982,GARD:0022536,GARD:0012736,GARD:0017506,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0011982,GARD:0022536,GARD:0012736,GARD:0017507,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0011982,GARD:0022512,GARD:0012736,GARD:0017506,Rare renal disease +GARD:0011982,GARD:0022531,GARD:0020304,GARD:0017506,Rare genetic disease +GARD:0011982,GARD:0022512,GARD:0012736,GARD:0017507,Rare renal disease +GARD:0011983,GARD:0022531,GARD:0020320,GARD:0015979,Rare genetic disease +GARD:0011983,GARD:0022523,GARD:0020320,GARD:0015979,Rare immune disease +GARD:0011983,GARD:0022531,GARD:0020320,GARD:0016046,Rare genetic disease +GARD:0011983,GARD:0022523,GARD:0020320,GARD:0016046,Rare immune disease +GARD:0011984,GARD:0022521,GARD:0022315,GARD:0015105,Rare endocrine disease +GARD:0011984,GARD:0022531,GARD:0020316,GARD:0010544,Rare genetic disease +GARD:0011984,GARD:0022531,GARD:0021015,GARD:0010546,Rare genetic disease +GARD:0011984,GARD:0022535,GARD:0022315,GARD:0016356,Rare neoplastic disease +GARD:0011984,GARD:0022531,GARD:0021015,GARD:0007324,Rare genetic disease +GARD:0011984,GARD:0022535,GARD:0022315,GARD:0010546,Rare neoplastic disease +GARD:0011984,GARD:0022521,GARD:0022315,GARD:0015763,Rare endocrine disease +GARD:0011984,GARD:0022531,GARD:0020316,GARD:0010546,Rare genetic disease +GARD:0011984,GARD:0022531,GARD:0020316,GARD:0016354,Rare genetic disease +GARD:0011984,GARD:0022521,GARD:0022315,GARD:0010546,Rare endocrine disease +GARD:0011984,GARD:0022521,GARD:0022315,GARD:0010544,Rare endocrine disease +GARD:0011984,GARD:0022531,GARD:0021015,GARD:0016354,Rare genetic disease +GARD:0011984,GARD:0022535,GARD:0022315,GARD:0016354,Rare neoplastic disease +GARD:0011984,GARD:0022535,GARD:0022315,GARD:0015105,Rare neoplastic disease +GARD:0011984,GARD:0022521,GARD:0022315,GARD:0007324,Rare endocrine disease +GARD:0011984,GARD:0022531,GARD:0020316,GARD:0016356,Rare genetic disease +GARD:0011984,GARD:0022531,GARD:0021015,GARD:0015105,Rare genetic disease +GARD:0011984,GARD:0022535,GARD:0022315,GARD:0015763,Rare neoplastic disease +GARD:0011984,GARD:0022521,GARD:0022315,GARD:0016354,Rare endocrine disease +GARD:0011984,GARD:0022521,GARD:0022315,GARD:0016356,Rare endocrine disease +GARD:0011984,GARD:0022531,GARD:0021015,GARD:0016356,Rare genetic disease +GARD:0011984,GARD:0022531,GARD:0020316,GARD:0015763,Rare genetic disease +GARD:0011984,GARD:0022535,GARD:0022315,GARD:0010545,Rare neoplastic disease +GARD:0011984,GARD:0022535,GARD:0022315,GARD:0010544,Rare neoplastic disease +GARD:0011984,GARD:0022531,GARD:0021015,GARD:0015763,Rare genetic disease +GARD:0011984,GARD:0022531,GARD:0020316,GARD:0007324,Rare genetic disease +GARD:0011984,GARD:0022531,GARD:0021015,GARD:0010545,Rare genetic disease +GARD:0011984,GARD:0022531,GARD:0020316,GARD:0010545,Rare genetic disease +GARD:0011984,GARD:0022521,GARD:0022315,GARD:0010545,Rare endocrine disease +GARD:0011984,GARD:0022535,GARD:0022315,GARD:0007324,Rare neoplastic disease +GARD:0011984,GARD:0022531,GARD:0020316,GARD:0015105,Rare genetic disease +GARD:0011984,GARD:0022531,GARD:0021015,GARD:0010544,Rare genetic disease +GARD:0011985,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0011985,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0011985,GARD:0022513,GARD:0020913,,Rare developmental defect during embryogenesis +GARD:0011985,GARD:0022531,GARD:0019445,,Rare genetic disease +GARD:0011985,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0011985,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0011985,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0011985,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0011985,GARD:0022531,GARD:0020913,,Rare genetic disease +GARD:0011985,GARD:0022529,GARD:0019445,,Rare infertility +GARD:0011992,GARD:0022523,GARD:0021359,,Rare immune disease +GARD:0012008,GARD:0022513,GARD:0020002,,Rare developmental defect during embryogenesis +GARD:0012008,GARD:0022528,GARD:0020002,,Rare otorhinolaryngologic disease +GARD:0012008,GARD:0022531,GARD:0021812,,Rare genetic disease +GARD:0012010,GARD:0022534,GARD:0019861,,Rare abdominal surgical disease +GARD:0012010,GARD:0022536,GARD:0019861,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012010,GARD:0022506,GARD:0022018,,Rare hepatic disease +GARD:0012010,GARD:0022513,GARD:0019861,,Rare developmental defect during embryogenesis +GARD:0012010,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012011,GARD:0022524,GARD:0012436,,Rare neurologic disease +GARD:0012011,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0012011,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0012011,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012011,GARD:0022531,GARD:0012436,,Rare genetic disease +GARD:0012015,GARD:0022535,GARD:0018907,,Rare neoplastic disease +GARD:0012016,GARD:0022524,GARD:0020738,,Rare neurologic disease +GARD:0012016,GARD:0022535,GARD:0020738,,Rare neoplastic disease +GARD:0012027,GARD:0022535,GARD:0019763,GARD:0009428,Rare neoplastic disease +GARD:0012027,GARD:0022521,GARD:0019763,GARD:0009428,Rare endocrine disease +GARD:0012032,GARD:0022519,GARD:0010875,,Rare surgical cardiac disease +GARD:0012032,GARD:0022513,GARD:0010875,,Rare developmental defect during embryogenesis +GARD:0012033,GARD:0022531,GARD:0020363,GARD:0012821,Rare genetic disease +GARD:0012033,GARD:0022524,GARD:0020363,GARD:0012822,Rare neurologic disease +GARD:0012033,GARD:0022524,GARD:0020363,GARD:0012824,Rare neurologic disease +GARD:0012033,GARD:0022531,GARD:0020363,GARD:0008334,Rare genetic disease +GARD:0012033,GARD:0022531,GARD:0020363,GARD:0012824,Rare genetic disease +GARD:0012033,GARD:0022524,GARD:0020363,GARD:0012821,Rare neurologic disease +GARD:0012033,GARD:0022524,GARD:0020363,GARD:0007171,Rare neurologic disease +GARD:0012033,GARD:0022524,GARD:0020363,GARD:0012823,Rare neurologic disease +GARD:0012033,GARD:0022531,GARD:0020363,GARD:0007171,Rare genetic disease +GARD:0012033,GARD:0022531,GARD:0020363,GARD:0012823,Rare genetic disease +GARD:0012033,GARD:0022524,GARD:0020363,GARD:0008334,Rare neurologic disease +GARD:0012033,GARD:0022531,GARD:0020363,GARD:0012822,Rare genetic disease +GARD:0012036,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0012036,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0012048,GARD:0022536,GARD:0012741,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012048,GARD:0022512,GARD:0012741,,Rare renal disease +GARD:0012059,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012059,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0012059,GARD:0022531,GARD:0021517,,Rare genetic disease +GARD:0012059,GARD:0022531,GARD:0021342,,Rare genetic disease +GARD:0012059,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012059,GARD:0022508,GARD:0021517,,Rare inborn errors of metabolism +GARD:0012059,GARD:0022531,GARD:0021610,,Rare genetic disease +GARD:0012059,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0012059,GARD:0022508,GARD:0021342,,Rare inborn errors of metabolism +GARD:0012059,GARD:0022510,GARD:0021610,,Rare skin disease +GARD:0012062,GARD:0022520,GARD:0022116,,Rare ophthalmic disorder +GARD:0012074,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0012074,GARD:0022507,GARD:0019979,,Rare maxillo-facial surgical disease +GARD:0012074,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0012074,GARD:0022511,GARD:0019979,,Rare bone disease +GARD:0012074,GARD:0022513,GARD:0019979,,Rare developmental defect during embryogenesis +GARD:0012074,GARD:0022531,GARD:0019979,,Rare genetic disease +GARD:0012074,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0012074,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0012074,GARD:0022528,GARD:0019979,,Rare otorhinolaryngologic disease +GARD:0012074,GARD:0022520,GARD:0022110,,Rare ophthalmic disorder +GARD:0012076,GARD:0022513,GARD:0020878,,Rare developmental defect during embryogenesis +GARD:0012076,GARD:0022531,GARD:0020878,,Rare genetic disease +GARD:0012085,GARD:0022520,GARD:0019493,GARD:0016637,Rare ophthalmic disorder +GARD:0012085,GARD:0022520,GARD:0019493,GARD:0003644,Rare ophthalmic disorder +GARD:0012085,GARD:0022531,GARD:0019493,GARD:0016637,Rare genetic disease +GARD:0012085,GARD:0022513,GARD:0019493,GARD:0003644,Rare developmental defect during embryogenesis +GARD:0012085,GARD:0022531,GARD:0019493,GARD:0003644,Rare genetic disease +GARD:0012085,GARD:0022513,GARD:0019493,GARD:0016637,Rare developmental defect during embryogenesis +GARD:0012097,GARD:0022508,GARD:0012511,GARD:0012099,Rare inborn errors of metabolism +GARD:0012097,GARD:0022531,GARD:0020232,GARD:0012099,Rare genetic disease +GARD:0012097,GARD:0022508,GARD:0012511,GARD:0007899,Rare inborn errors of metabolism +GARD:0012097,GARD:0022521,GARD:0020232,GARD:0012099,Rare endocrine disease +GARD:0012097,GARD:0022531,GARD:0020232,GARD:0007899,Rare genetic disease +GARD:0012097,GARD:0022536,GARD:0012511,GARD:0007899,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012097,GARD:0022531,GARD:0012511,GARD:0012099,Rare genetic disease +GARD:0012097,GARD:0022536,GARD:0012511,GARD:0012099,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012097,GARD:0022508,GARD:0020232,GARD:0007899,Rare inborn errors of metabolism +GARD:0012097,GARD:0022521,GARD:0020232,GARD:0007899,Rare endocrine disease +GARD:0012097,GARD:0022531,GARD:0012511,GARD:0007899,Rare genetic disease +GARD:0012097,GARD:0022508,GARD:0020232,GARD:0012099,Rare inborn errors of metabolism +GARD:0012099,GARD:0022521,GARD:0012097,,Rare endocrine disease +GARD:0012099,GARD:0022531,GARD:0012097,,Rare genetic disease +GARD:0012099,GARD:0022536,GARD:0012097,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012099,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0012099,GARD:0022508,GARD:0012097,,Rare inborn errors of metabolism +GARD:0012099,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0016475,Rare neurologic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0016459,Rare neurologic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0016478,Rare neurologic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0016477,Rare genetic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0016462,Rare genetic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0012558,Rare genetic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0016478,Rare genetic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0016475,Rare genetic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0016462,Rare neurologic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0016469,Rare genetic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0016476,Rare neurologic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0016461,Rare genetic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0016472,Rare genetic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0013179,Rare neurologic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0013179,Rare genetic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0016460,Rare neurologic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0013136,Rare genetic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0012851,Rare neurologic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0016476,Rare genetic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0016459,Rare genetic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0016474,Rare neurologic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0016467,Rare genetic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0016467,Rare neurologic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0013524,Rare neurologic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0018623,Rare genetic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0013539,Rare neurologic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0016469,Rare neurologic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0016454,Rare genetic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0016472,Rare neurologic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0012851,Rare genetic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0013524,Rare genetic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0016473,Rare neurologic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0016454,Rare neurologic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0012558,Rare neurologic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0018623,Rare neurologic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0016455,Rare neurologic disease +GARD:0012107,GARD:0022531,GARD:0019783,GARD:0016455,Rare genetic disease +GARD:0012107,GARD:0022524,GARD:0019783,GARD:0016461,Rare neurologic disease 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embryogenesis +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0016105,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0016054,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022531,GARD:0003603,GARD:0016057,Rare genetic disease +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0015366,Rare neurologic disease +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0015366,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0015366,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0015373,Rare neurologic disease +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0016123,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0016057,Rare neurologic disease +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0015833,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0015198,Rare genetic disease 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+GARD:0012117,GARD:0022524,GARD:0019832,GARD:0016302,Rare neurologic disease +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0016280,Rare genetic disease +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0016346,Rare neurologic disease +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0015833,Rare neurologic disease +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0016123,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0015441,Rare genetic disease +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0015366,Rare ophthalmic disorder +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0016302,Rare ophthalmic disorder +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0015373,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0016253,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0016302,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0015373,Rare genetic disease +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0015833,Rare neurologic disease +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0015366,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0015580,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0003603,GARD:0016268,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0003603,GARD:0016280,Rare genetic disease +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0016253,Rare neurologic disease +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0015431,Rare ophthalmic disorder +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0015431,Rare neurologic disease +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0016123,Rare neurologic disease +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0016253,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0016278,Rare ophthalmic disorder +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0015198,Rare neurologic disease +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0015198,Rare ophthalmic disorder +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0016279,Rare genetic disease +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0015198,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0016278,Rare neurologic disease +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0015360,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0015580,Rare ophthalmic disorder +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0016279,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0015855,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0015360,Rare genetic disease +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0016123,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0016346,Rare ophthalmic disorder +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0016151,Rare neurologic disease +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0015580,Rare neurologic disease 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disease +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0015580,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0016278,Rare genetic disease +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0016057,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0016253,Rare ophthalmic disorder +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0015441,Rare neurologic disease +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0016268,Rare neurologic disease +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0015367,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0003603,GARD:0016123,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0003603,GARD:0016151,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0015198,Rare genetic disease +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0015431,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0016057,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0016302,Rare neurologic disease +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0015373,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0016280,Rare neurologic disease +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0015441,Rare ophthalmic disorder +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0016186,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0015360,Rare ophthalmic disorder +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0016279,Rare neurologic disease +GARD:0012117,GARD:0022531,GARD:0003603,GARD:0015198,Rare genetic disease +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0016054,Rare neurologic disease +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0015441,Rare neurologic disease +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0016346,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0016151,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0016253,Rare genetic disease +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0016302,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0016151,Rare neurologic disease +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0016105,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0015833,Rare genetic disease +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0016280,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0016057,Rare neurologic disease +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0015833,Rare genetic disease +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0015580,Rare neurologic disease +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0016268,Rare genetic disease +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0016268,Rare ophthalmic disorder +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0016278,Rare neurologic disease +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0015367,Rare neurologic disease +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0016346,Rare neurologic disease +GARD:0012117,GARD:0022531,GARD:0003603,GARD:0015855,Rare genetic disease +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0015373,Rare ophthalmic disorder +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0015366,Rare neurologic disease +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0016278,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0015833,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0016105,Rare neurologic disease +GARD:0012117,GARD:0022531,GARD:0003603,GARD:0015360,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0015580,Rare genetic disease +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0016279,Rare neurologic disease +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0016123,Rare neurologic disease +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0016123,Rare ophthalmic disorder +GARD:0012117,GARD:0022531,GARD:0003603,GARD:0015580,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0016280,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0016278,Rare genetic disease +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0016151,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0016268,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0016268,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0016302,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0016054,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0016054,Rare ophthalmic disorder +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0016186,Rare genetic disease +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0016280,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022531,GARD:0003603,GARD:0015366,Rare genetic disease +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0015855,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0016186,Rare neurologic disease +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0015431,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0016054,Rare genetic disease +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0016278,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0016151,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0015855,Rare ophthalmic disorder +GARD:0012117,GARD:0022531,GARD:0003603,GARD:0015373,Rare genetic disease +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0015367,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0016057,Rare genetic disease +GARD:0012117,GARD:0022524,GARD:0019832,GARD:0016186,Rare neurologic disease +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0016105,Rare ophthalmic disorder +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0015580,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022531,GARD:0003603,GARD:0016186,Rare genetic disease +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0015855,Rare neurologic disease +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0015431,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0016186,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0016151,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0003603,GARD:0015441,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0016279,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0015431,Rare genetic disease +GARD:0012117,GARD:0022531,GARD:0022151,GARD:0015366,Rare genetic disease +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0015855,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0015441,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0016151,Rare ophthalmic disorder +GARD:0012117,GARD:0022531,GARD:0003603,GARD:0015431,Rare genetic disease +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0016253,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0016186,Rare ophthalmic disorder +GARD:0012117,GARD:0022531,GARD:0022441,GARD:0015855,Rare genetic disease +GARD:0012117,GARD:0022513,GARD:0003603,GARD:0016346,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0016105,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022513,GARD:0019832,GARD:0015367,Rare developmental defect during embryogenesis +GARD:0012117,GARD:0022520,GARD:0022116,GARD:0016057,Rare ophthalmic disorder +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0016268,Rare neurologic disease +GARD:0012117,GARD:0022524,GARD:0003603,GARD:0015367,Rare neurologic disease +GARD:0012123,GARD:0022531,GARD:0021180,,Rare genetic disease +GARD:0012123,GARD:0022511,GARD:0021180,,Rare bone disease +GARD:0012123,GARD:0022513,GARD:0021180,,Rare developmental defect during embryogenesis +GARD:0012124,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0012124,GARD:0022523,GARD:0020026,,Rare immune disease +GARD:0012124,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012125,GARD:0022536,GARD:0021245,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012125,GARD:0022535,GARD:0021245,,Rare neoplastic disease +GARD:0012125,GARD:0022535,GARD:0021147,,Rare neoplastic disease +GARD:0012125,GARD:0022522,GARD:0021245,,Rare hematologic disease +GARD:0012128,GARD:0022522,GARD:0003579,,Rare hematologic disease +GARD:0012128,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0012128,GARD:0022508,GARD:0003579,,Rare inborn errors of metabolism +GARD:0012128,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012128,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0012128,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0012128,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012128,GARD:0022531,GARD:0022330,,Rare genetic disease +GARD:0012128,GARD:0022522,GARD:0022330,,Rare hematologic disease +GARD:0012128,GARD:0022536,GARD:0022233,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012128,GARD:0022512,GARD:0022233,,Rare renal disease +GARD:0012128,GARD:0022531,GARD:0003579,,Rare genetic disease +GARD:0012128,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0012144,GARD:0022508,GARD:0021348,GARD:0001902,Rare inborn errors of metabolism +GARD:0012144,GARD:0022508,GARD:0021348,GARD:0010365,Rare inborn errors of metabolism +GARD:0012144,GARD:0022531,GARD:0021348,GARD:0009817,Rare genetic disease +GARD:0012144,GARD:0022531,GARD:0021628,GARD:0009817,Rare genetic disease +GARD:0012144,GARD:0022524,GARD:0021348,GARD:0001902,Rare neurologic disease +GARD:0012144,GARD:0022524,GARD:0021628,GARD:0009817,Rare neurologic disease +GARD:0012144,GARD:0022524,GARD:0021348,GARD:0010365,Rare neurologic disease +GARD:0012144,GARD:0022531,GARD:0021348,GARD:0010365,Rare genetic disease +GARD:0012144,GARD:0022508,GARD:0021348,GARD:0009817,Rare inborn errors of metabolism +GARD:0012144,GARD:0022524,GARD:0021628,GARD:0001902,Rare neurologic disease +GARD:0012144,GARD:0022524,GARD:0021348,GARD:0009817,Rare neurologic disease +GARD:0012144,GARD:0022531,GARD:0021628,GARD:0010365,Rare genetic disease +GARD:0012144,GARD:0022524,GARD:0021628,GARD:0010365,Rare neurologic disease +GARD:0012144,GARD:0022531,GARD:0021628,GARD:0001902,Rare genetic disease +GARD:0012144,GARD:0022531,GARD:0021348,GARD:0001902,Rare genetic disease +GARD:0012162,GARD:0022531,GARD:0005898,GARD:0015262,Rare genetic disease +GARD:0012162,GARD:0022524,GARD:0005898,GARD:0015261,Rare neurologic disease +GARD:0012162,GARD:0022524,GARD:0005898,GARD:0015262,Rare neurologic disease +GARD:0012162,GARD:0022531,GARD:0005898,GARD:0015261,Rare genetic disease +GARD:0012163,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012163,GARD:0022524,GARD:0021271,,Rare neurologic disease +GARD:0012163,GARD:0022531,GARD:0020137,,Rare genetic disease +GARD:0012163,GARD:0022531,GARD:0019746,,Rare genetic disease +GARD:0012163,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012163,GARD:0022531,GARD:0021271,,Rare genetic disease +GARD:0012163,GARD:0022517,GARD:0019746,,Rare respiratory disease +GARD:0012163,GARD:0022521,GARD:0020137,,Rare endocrine disease +GARD:0012163,GARD:0022536,GARD:0019746,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012166,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0012166,GARD:0022531,GARD:0020825,,Rare genetic disease +GARD:0012166,GARD:0022513,GARD:0020825,,Rare developmental defect during embryogenesis +GARD:0012166,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012166,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012166,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012166,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0012173,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012173,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012173,GARD:0022531,GARD:0020099,,Rare genetic disease +GARD:0012173,GARD:0022524,GARD:0020099,,Rare neurologic disease +GARD:0012173,GARD:0022531,GARD:0021279,,Rare genetic disease +GARD:0012173,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0012173,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0012173,GARD:0022524,GARD:0021279,,Rare neurologic disease +GARD:0012185,GARD:0022531,GARD:0021119,GARD:0010028,Rare genetic disease +GARD:0012185,GARD:0022531,GARD:0021119,GARD:0010029,Rare genetic disease +GARD:0012185,GARD:0022508,GARD:0021347,GARD:0010029,Rare inborn errors of metabolism +GARD:0012185,GARD:0022508,GARD:0021347,GARD:0010028,Rare inborn errors of metabolism +GARD:0012185,GARD:0022531,GARD:0021347,GARD:0010028,Rare genetic disease +GARD:0012185,GARD:0022506,GARD:0021119,GARD:0010029,Rare hepatic disease +GARD:0012185,GARD:0022506,GARD:0021119,GARD:0010028,Rare hepatic disease +GARD:0012185,GARD:0022531,GARD:0021347,GARD:0010029,Rare genetic disease +GARD:0012185,GARD:0022536,GARD:0021119,GARD:0010029,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012185,GARD:0022536,GARD:0021119,GARD:0010028,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012199,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0012199,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0012219,GARD:0022513,GARD:0020834,,Rare developmental defect during embryogenesis +GARD:0012219,GARD:0022531,GARD:0022043,,Rare genetic disease +GARD:0012219,GARD:0022531,GARD:0020834,,Rare genetic disease +GARD:0012219,GARD:0022524,GARD:0022043,,Rare neurologic disease +GARD:0012219,GARD:0022513,GARD:0022043,,Rare developmental defect during embryogenesis +GARD:0012232,GARD:0022531,GARD:0018718,,Rare genetic disease +GARD:0012232,GARD:0022524,GARD:0018718,,Rare neurologic disease +GARD:0012234,GARD:0022531,GARD:0018718,,Rare genetic disease +GARD:0012234,GARD:0022524,GARD:0018718,,Rare neurologic disease +GARD:0012241,GARD:0022508,GARD:0006414,GARD:0015077,Rare inborn errors of metabolism +GARD:0012241,GARD:0022521,GARD:0006414,GARD:0015077,Rare endocrine disease +GARD:0012241,GARD:0022531,GARD:0006414,GARD:0015077,Rare genetic disease +GARD:0012244,GARD:0022524,GARD:0019438,,Rare neurologic disease +GARD:0012244,GARD:0022524,GARD:0021553,,Rare neurologic disease +GARD:0012251,GARD:0022525,GARD:0021129,GARD:0002060,Rare systemic or rheumatologic disease +GARD:0012251,GARD:0022531,GARD:0022172,GARD:0015062,Rare genetic disease +GARD:0012251,GARD:0022520,GARD:0019535,GARD:0002060,Rare ophthalmic disorder +GARD:0012251,GARD:0022520,GARD:0019535,GARD:0015164,Rare ophthalmic disorder +GARD:0012251,GARD:0022531,GARD:0021129,GARD:0015062,Rare genetic disease +GARD:0012251,GARD:0022531,GARD:0022172,GARD:0002060,Rare genetic disease +GARD:0012251,GARD:0022525,GARD:0021129,GARD:0015062,Rare systemic or rheumatologic disease +GARD:0012251,GARD:0022531,GARD:0022172,GARD:0015164,Rare genetic disease +GARD:0012251,GARD:0022513,GARD:0019535,GARD:0002060,Rare developmental defect during embryogenesis +GARD:0012251,GARD:0022513,GARD:0019535,GARD:0015062,Rare developmental defect during embryogenesis +GARD:0012251,GARD:0022531,GARD:0021129,GARD:0002060,Rare genetic disease +GARD:0012251,GARD:0022513,GARD:0019535,GARD:0015164,Rare developmental defect during embryogenesis +GARD:0012251,GARD:0022520,GARD:0019535,GARD:0015062,Rare ophthalmic disorder +GARD:0012251,GARD:0022525,GARD:0021129,GARD:0015164,Rare systemic or rheumatologic disease +GARD:0012251,GARD:0022531,GARD:0021129,GARD:0015164,Rare genetic disease +GARD:0012257,GARD:0022522,GARD:0003178,,Rare hematologic disease +GARD:0012257,GARD:0022535,GARD:0003178,,Rare neoplastic disease +GARD:0012257,GARD:0022536,GARD:0003178,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012264,GARD:0022531,GARD:0021963,,Rare genetic disease +GARD:0012264,GARD:0022524,GARD:0021963,,Rare neurologic disease +GARD:0012267,GARD:0022531,GARD:0019929,,Rare genetic disease +GARD:0012267,GARD:0022524,GARD:0019929,,Rare neurologic disease +GARD:0012280,GARD:0022521,GARD:0020560,GARD:0017499,Rare endocrine disease +GARD:0012280,GARD:0022531,GARD:0020560,GARD:0020562,Rare genetic disease +GARD:0012280,GARD:0022531,GARD:0020560,GARD:0017179,Rare genetic disease +GARD:0012280,GARD:0022521,GARD:0020560,GARD:0017179,Rare endocrine disease +GARD:0012280,GARD:0022521,GARD:0020560,GARD:0016914,Rare endocrine disease +GARD:0012280,GARD:0022531,GARD:0020560,GARD:0016914,Rare genetic disease +GARD:0012280,GARD:0022531,GARD:0020560,GARD:0017499,Rare genetic disease +GARD:0012280,GARD:0022531,GARD:0020560,GARD:0010129,Rare genetic disease +GARD:0012280,GARD:0022521,GARD:0020560,GARD:0010129,Rare endocrine disease +GARD:0012280,GARD:0022521,GARD:0020560,GARD:0020562,Rare endocrine disease +GARD:0012281,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0012281,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0012281,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0012281,GARD:0022531,GARD:0020060,,Rare genetic disease +GARD:0012291,GARD:0022513,GARD:0019866,GARD:0017066,Rare developmental defect during embryogenesis +GARD:0012291,GARD:0022513,GARD:0019866,GARD:0019821,Rare developmental defect during embryogenesis +GARD:0012291,GARD:0022524,GARD:0019832,GARD:0019821,Rare neurologic disease +GARD:0012291,GARD:0022531,GARD:0021007,GARD:0017066,Rare genetic disease +GARD:0012291,GARD:0022513,GARD:0019832,GARD:0019820,Rare developmental defect during embryogenesis +GARD:0012291,GARD:0022531,GARD:0022441,GARD:0019820,Rare genetic disease +GARD:0012291,GARD:0022513,GARD:0019866,GARD:0019068,Rare developmental defect during embryogenesis +GARD:0012291,GARD:0022531,GARD:0022441,GARD:0017066,Rare genetic disease +GARD:0012291,GARD:0022531,GARD:0021007,GARD:0019068,Rare genetic disease +GARD:0012291,GARD:0022513,GARD:0019866,GARD:0005049,Rare developmental defect during embryogenesis +GARD:0012291,GARD:0022531,GARD:0022441,GARD:0003277,Rare genetic disease +GARD:0012291,GARD:0022531,GARD:0022441,GARD:0005049,Rare genetic disease +GARD:0012291,GARD:0022524,GARD:0019866,GARD:0019820,Rare neurologic disease +GARD:0012291,GARD:0022524,GARD:0020088,GARD:0005049,Rare neurologic disease +GARD:0012291,GARD:0022513,GARD:0019832,GARD:0016555,Rare developmental defect during embryogenesis +GARD:0012291,GARD:0022531,GARD:0020088,GARD:0019821,Rare genetic disease +GARD:0012291,GARD:0022524,GARD:0019866,GARD:0005049,Rare neurologic disease +GARD:0012291,GARD:0022524,GARD:0019832,GARD:0019820,Rare neurologic disease +GARD:0012291,GARD:0022524,GARD:0019866,GARD:0019068,Rare neurologic disease +GARD:0012291,GARD:0022531,GARD:0022441,GARD:0019821,Rare genetic disease +GARD:0012291,GARD:0022524,GARD:0020088,GARD:0019821,Rare neurologic disease +GARD:0012291,GARD:0022531,GARD:0022441,GARD:0016555,Rare genetic disease +GARD:0012291,GARD:0022531,GARD:0020088,GARD:0016555,Rare genetic disease +GARD:0012291,GARD:0022513,GARD:0019866,GARD:0019820,Rare developmental defect during embryogenesis +GARD:0012291,GARD:0022524,GARD:0020088,GARD:0017066,Rare neurologic disease +GARD:0012291,GARD:0022524,GARD:0019866,GARD:0019821,Rare neurologic disease +GARD:0012291,GARD:0022531,GARD:0021007,GARD:0019820,Rare genetic disease +GARD:0012291,GARD:0022524,GARD:0019832,GARD:0003277,Rare neurologic disease +GARD:0012291,GARD:0022531,GARD:0020088,GARD:0005049,Rare genetic disease +GARD:0012291,GARD:0022524,GARD:0020088,GARD:0019820,Rare neurologic disease +GARD:0012291,GARD:0022524,GARD:0019832,GARD:0019068,Rare neurologic disease +GARD:0012291,GARD:0022531,GARD:0022441,GARD:0019068,Rare genetic disease +GARD:0012291,GARD:0022524,GARD:0019866,GARD:0003277,Rare neurologic disease +GARD:0012291,GARD:0022531,GARD:0021007,GARD:0019821,Rare genetic disease +GARD:0012291,GARD:0022531,GARD:0021007,GARD:0005049,Rare genetic disease +GARD:0012291,GARD:0022531,GARD:0020088,GARD:0017066,Rare genetic disease +GARD:0012291,GARD:0022513,GARD:0019866,GARD:0003277,Rare developmental defect during embryogenesis +GARD:0012291,GARD:0022513,GARD:0019832,GARD:0003277,Rare developmental defect during embryogenesis +GARD:0012291,GARD:0022513,GARD:0019832,GARD:0019821,Rare developmental defect during embryogenesis +GARD:0012291,GARD:0022524,GARD:0019832,GARD:0016555,Rare neurologic disease +GARD:0012291,GARD:0022524,GARD:0020088,GARD:0003277,Rare neurologic disease +GARD:0012291,GARD:0022524,GARD:0019832,GARD:0017066,Rare neurologic disease +GARD:0012291,GARD:0022524,GARD:0019866,GARD:0017066,Rare neurologic disease +GARD:0012291,GARD:0022531,GARD:0020088,GARD:0019820,Rare genetic disease +GARD:0012291,GARD:0022531,GARD:0020088,GARD:0019068,Rare genetic disease +GARD:0012291,GARD:0022524,GARD:0020088,GARD:0019068,Rare neurologic disease +GARD:0012291,GARD:0022531,GARD:0020088,GARD:0003277,Rare genetic disease +GARD:0012291,GARD:0022513,GARD:0019832,GARD:0005049,Rare developmental defect during embryogenesis +GARD:0012291,GARD:0022513,GARD:0019832,GARD:0017066,Rare developmental defect during embryogenesis +GARD:0012291,GARD:0022531,GARD:0021007,GARD:0003277,Rare genetic disease +GARD:0012291,GARD:0022513,GARD:0019832,GARD:0019068,Rare developmental defect during embryogenesis +GARD:0012291,GARD:0022524,GARD:0020088,GARD:0016555,Rare neurologic disease +GARD:0012291,GARD:0022524,GARD:0019866,GARD:0016555,Rare neurologic disease +GARD:0012291,GARD:0022513,GARD:0019866,GARD:0016555,Rare developmental defect during embryogenesis +GARD:0012291,GARD:0022531,GARD:0021007,GARD:0016555,Rare genetic disease +GARD:0012291,GARD:0022524,GARD:0019832,GARD:0005049,Rare neurologic disease +GARD:0012299,GARD:0022531,GARD:0022182,,Rare genetic disease +GARD:0012299,GARD:0022520,GARD:0022103,,Rare ophthalmic disorder +GARD:0012300,GARD:0022524,GARD:0006895,GARD:0017294,Rare neurologic disease +GARD:0012300,GARD:0022524,GARD:0006895,GARD:0004266,Rare neurologic disease +GARD:0012300,GARD:0022531,GARD:0006895,GARD:0017294,Rare genetic disease +GARD:0012300,GARD:0022524,GARD:0006895,GARD:0017293,Rare neurologic disease +GARD:0012300,GARD:0022531,GARD:0006895,GARD:0017293,Rare genetic disease +GARD:0012300,GARD:0022531,GARD:0006895,GARD:0004266,Rare genetic disease +GARD:0012301,GARD:0022531,GARD:0020373,GARD:0006176,Rare genetic disease +GARD:0012301,GARD:0022524,GARD:0019564,GARD:0006176,Rare neurologic disease +GARD:0012301,GARD:0022531,GARD:0020373,GARD:0000844,Rare genetic disease +GARD:0012301,GARD:0022531,GARD:0019564,GARD:0000844,Rare genetic disease +GARD:0012301,GARD:0022524,GARD:0020373,GARD:0000844,Rare neurologic disease +GARD:0012301,GARD:0022524,GARD:0020373,GARD:0006176,Rare neurologic disease +GARD:0012301,GARD:0022531,GARD:0019564,GARD:0006176,Rare genetic disease +GARD:0012301,GARD:0022524,GARD:0019564,GARD:0000844,Rare neurologic disease +GARD:0012308,GARD:0022534,GARD:0022534,,Rare abdominal surgical disease +GARD:0012311,GARD:0022531,GARD:0019844,,Rare genetic disease +GARD:0012311,GARD:0022516,GARD:0019844,,Rare gastroenterologic disease +GARD:0012311,GARD:0022531,GARD:0021313,,Rare genetic disease +GARD:0012311,GARD:0022508,GARD:0021313,,Rare inborn errors of metabolism +GARD:0012312,GARD:0022531,GARD:0020012,,Rare genetic disease +GARD:0012312,GARD:0022511,GARD:0019197,,Rare bone disease +GARD:0012312,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0012312,GARD:0022531,GARD:0022385,,Rare genetic disease +GARD:0012312,GARD:0022513,GARD:0019197,,Rare developmental defect during embryogenesis +GARD:0012312,GARD:0022531,GARD:0019197,,Rare genetic disease +GARD:0012312,GARD:0022521,GARD:0022385,,Rare endocrine disease +GARD:0012312,GARD:0022521,GARD:0019146,,Rare endocrine disease +GARD:0012312,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0012312,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0012314,GARD:0022536,GARD:0020116,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012314,GARD:0022521,GARD:0019800,,Rare endocrine disease +GARD:0012314,GARD:0022531,GARD:0020116,,Rare genetic disease +GARD:0012314,GARD:0022523,GARD:0020116,,Rare immune disease +GARD:0012314,GARD:0022531,GARD:0022148,,Rare genetic disease +GARD:0012314,GARD:0022531,GARD:0020317,,Rare genetic disease +GARD:0012314,GARD:0022536,GARD:0022148,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012314,GARD:0022516,GARD:0022148,,Rare gastroenterologic disease +GARD:0012314,GARD:0022531,GARD:0020322,,Rare genetic disease +GARD:0012314,GARD:0022523,GARD:0020322,,Rare immune disease +GARD:0012315,GARD:0022520,GARD:0019510,,Rare ophthalmic disorder +GARD:0012315,GARD:0022531,GARD:0019152,,Rare genetic disease +GARD:0012315,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012315,GARD:0022510,GARD:0021114,,Rare skin disease +GARD:0012315,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012315,GARD:0022531,GARD:0020275,,Rare genetic disease +GARD:0012315,GARD:0022531,GARD:0021114,,Rare genetic disease +GARD:0012315,GARD:0022531,GARD:0019510,,Rare genetic disease +GARD:0012315,GARD:0022508,GARD:0019152,,Rare inborn errors of metabolism +GARD:0012315,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0012316,GARD:0022523,GARD:0020633,,Rare immune disease +GARD:0012316,GARD:0022516,GARD:0022148,,Rare gastroenterologic disease +GARD:0012316,GARD:0022536,GARD:0022148,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012316,GARD:0022531,GARD:0022148,,Rare genetic disease +GARD:0012316,GARD:0022531,GARD:0020633,,Rare genetic disease +GARD:0012316,GARD:0022536,GARD:0020633,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012316,GARD:0022535,GARD:0020633,,Rare neoplastic disease +GARD:0012328,GARD:0022524,GARD:0019929,,Rare neurologic disease +GARD:0012328,GARD:0022531,GARD:0019929,,Rare genetic disease +GARD:0012331,GARD:0022516,GARD:0019873,GARD:0007873,Rare gastroenterologic disease +GARD:0012331,GARD:0022516,GARD:0019873,GARD:0019135,Rare gastroenterologic disease +GARD:0012331,GARD:0022516,GARD:0019873,GARD:0015003,Rare gastroenterologic disease +GARD:0012335,GARD:0022535,GARD:0020472,,Rare neoplastic disease +GARD:0012335,GARD:0022514,GARD:0020472,,Rare gynecologic or obstetric disease +GARD:0012338,GARD:0022531,GARD:0018951,,Rare genetic disease +GARD:0012338,GARD:0022508,GARD:0018951,,Rare inborn errors of metabolism +GARD:0012338,GARD:0022523,GARD:0021510,,Rare immune disease +GARD:0012338,GARD:0022531,GARD:0021510,,Rare genetic disease +GARD:0012338,GARD:0022531,GARD:0019462,,Rare genetic disease +GARD:0012338,GARD:0022522,GARD:0019462,,Rare hematologic disease +GARD:0012344,GARD:0022510,GARD:0018984,GARD:0020745,Rare skin disease +GARD:0012344,GARD:0022510,GARD:0018984,GARD:0020744,Rare skin disease +GARD:0012347,GARD:0022531,GARD:0018967,,Rare genetic disease +GARD:0012347,GARD:0022508,GARD:0018967,,Rare inborn errors of metabolism +GARD:0012348,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0012348,GARD:0022531,GARD:0021344,,Rare genetic disease +GARD:0012348,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012348,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012348,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0012348,GARD:0022508,GARD:0021344,,Rare inborn errors of metabolism +GARD:0012351,GARD:0022535,GARD:0015010,,Rare neoplastic disease +GARD:0012351,GARD:0022531,GARD:0015010,,Rare genetic disease +GARD:0012351,GARD:0022514,GARD:0015010,,Rare gynecologic or obstetric disease +GARD:0012352,GARD:0022535,GARD:0015010,,Rare neoplastic disease +GARD:0012352,GARD:0022514,GARD:0015010,,Rare gynecologic or obstetric disease +GARD:0012352,GARD:0022531,GARD:0015010,,Rare genetic disease +GARD:0012353,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0012353,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0012354,GARD:0022512,GARD:0004667,,Rare renal disease +GARD:0012354,GARD:0022531,GARD:0019455,,Rare genetic disease +GARD:0012354,GARD:0022536,GARD:0004667,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012354,GARD:0022522,GARD:0019455,,Rare hematologic disease +GARD:0012354,GARD:0022531,GARD:0004667,,Rare genetic disease +GARD:0012356,GARD:0022527,GARD:0002249,,Rare circulatory system disease +GARD:0012356,GARD:0022518,GARD:0002249,,Rare surgical thoracic disease +GARD:0012356,GARD:0022525,GARD:0002249,,Rare systemic or rheumatologic disease +GARD:0012356,GARD:0022531,GARD:0002249,,Rare genetic disease +GARD:0012357,GARD:0022527,GARD:0019983,,Rare circulatory system disease +GARD:0012357,GARD:0022531,GARD:0021957,,Rare genetic disease +GARD:0012357,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0012357,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0012357,GARD:0022525,GARD:0019983,,Rare systemic or rheumatologic disease +GARD:0012357,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0012357,GARD:0022523,GARD:0020117,,Rare immune disease +GARD:0012357,GARD:0022525,GARD:0021957,,Rare systemic or rheumatologic disease +GARD:0012357,GARD:0022531,GARD:0020628,,Rare genetic disease +GARD:0012357,GARD:0022531,GARD:0020117,,Rare genetic disease +GARD:0012357,GARD:0021079,GARD:0021986,,Rare systemic or rheumatological disease of childhood +GARD:0012357,GARD:0021079,GARD:0021461,,Rare systemic or rheumatological disease of childhood +GARD:0012357,GARD:0021079,GARD:0021081,,Rare systemic or rheumatological disease of childhood +GARD:0012357,GARD:0022531,GARD:0022488,,Rare genetic disease +GARD:0012360,GARD:0022531,GARD:0019452,,Rare genetic disease +GARD:0012360,GARD:0022531,GARD:0021355,,Rare genetic disease +GARD:0012360,GARD:0022508,GARD:0021355,,Rare inborn errors of metabolism +GARD:0012360,GARD:0022522,GARD:0019452,,Rare hematologic disease +GARD:0012362,GARD:0022521,GARD:0020630,,Rare endocrine disease +GARD:0012362,GARD:0022531,GARD:0020630,,Rare genetic disease +GARD:0012362,GARD:0022536,GARD:0020630,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012362,GARD:0022527,GARD:0020630,,Rare circulatory system disease +GARD:0012362,GARD:0022512,GARD:0020630,,Rare renal disease +GARD:0012365,GARD:0022531,GARD:0019571,,Rare genetic disease +GARD:0012365,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0012365,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0012366,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0012366,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0012367,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0012367,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0012368,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0012368,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0012369,GARD:0022524,GARD:0019253,,Rare neurologic disease +GARD:0012369,GARD:0022508,GARD:0021517,,Rare inborn errors of metabolism +GARD:0012369,GARD:0022531,GARD:0019253,,Rare genetic disease +GARD:0012369,GARD:0022531,GARD:0021517,,Rare genetic disease +GARD:0012371,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0012371,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0012372,GARD:0022524,GARD:0018879,,Rare neurologic disease +GARD:0012372,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0012372,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0012372,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0012372,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0012372,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0012375,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0012375,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0012375,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012382,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0012382,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0012382,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0012382,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0012382,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0012382,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0012383,GARD:0021079,GARD:0021986,,Rare systemic or rheumatological disease of childhood +GARD:0012383,GARD:0022527,GARD:0019982,,Rare circulatory system disease +GARD:0012383,GARD:0022525,GARD:0019982,,Rare systemic or rheumatologic disease +GARD:0012383,GARD:0022525,GARD:0021957,,Rare systemic or rheumatologic disease +GARD:0012383,GARD:0021079,GARD:0021081,,Rare systemic or rheumatological disease of childhood +GARD:0012383,GARD:0022531,GARD:0020628,,Rare genetic disease +GARD:0012383,GARD:0022523,GARD:0020117,,Rare immune disease +GARD:0012383,GARD:0022531,GARD:0021957,,Rare genetic disease +GARD:0012383,GARD:0022531,GARD:0020117,,Rare genetic disease +GARD:0012384,GARD:0022531,GARD:0021301,,Rare genetic disease +GARD:0012384,GARD:0022510,GARD:0021301,,Rare skin disease +GARD:0012385,GARD:0022529,GARD:0017654,,Rare infertility +GARD:0012385,GARD:0022531,GARD:0017654,,Rare genetic disease +GARD:0012388,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012388,GARD:0022513,GARD:0020869,,Rare developmental defect during embryogenesis +GARD:0012388,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012388,GARD:0022531,GARD:0020869,,Rare genetic disease +GARD:0012390,GARD:0022525,GARD:0019831,,Rare systemic or rheumatologic disease +GARD:0012391,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0012391,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0012393,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0012393,GARD:0022515,GARD:0021606,,Rare cardiac disease +GARD:0012393,GARD:0022536,GARD:0021606,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012393,GARD:0022531,GARD:0021610,,Rare genetic disease +GARD:0012393,GARD:0022531,GARD:0021606,,Rare genetic disease +GARD:0012393,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0012393,GARD:0022510,GARD:0021114,,Rare skin disease +GARD:0012393,GARD:0022510,GARD:0021610,,Rare skin disease +GARD:0012393,GARD:0022531,GARD:0021114,,Rare genetic disease +GARD:0012394,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012394,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0012394,GARD:0022531,GARD:0021605,,Rare genetic disease +GARD:0012394,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0012394,GARD:0022506,GARD:0021605,,Rare hepatic disease +GARD:0012394,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0012394,GARD:0022513,GARD:0021612,,Rare developmental defect during embryogenesis +GARD:0012394,GARD:0022528,GARD:0021612,,Rare otorhinolaryngologic disease +GARD:0012394,GARD:0022531,GARD:0021612,,Rare genetic disease +GARD:0012394,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012394,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0012395,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0012395,GARD:0022515,GARD:0021606,,Rare cardiac disease +GARD:0012395,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0012395,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0012395,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012395,GARD:0022524,GARD:0012584,,Rare neurologic disease +GARD:0012395,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0012395,GARD:0022531,GARD:0021606,,Rare genetic disease +GARD:0012395,GARD:0022536,GARD:0021606,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012395,GARD:0022531,GARD:0012584,,Rare genetic disease +GARD:0012395,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012396,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0012396,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0012396,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012396,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0012396,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0012396,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012397,GARD:0022520,GARD:0022117,,Rare ophthalmic disorder +GARD:0012397,GARD:0022531,GARD:0021610,,Rare genetic disease +GARD:0012397,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0012397,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012397,GARD:0022510,GARD:0021610,,Rare skin disease +GARD:0012397,GARD:0022531,GARD:0022117,,Rare genetic disease +GARD:0012397,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0012397,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012397,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0012397,GARD:0022513,GARD:0022117,,Rare developmental defect during embryogenesis +GARD:0012397,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0012398,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012398,GARD:0022531,GARD:0021605,,Rare genetic disease +GARD:0012398,GARD:0022506,GARD:0021605,,Rare hepatic disease +GARD:0012398,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0012398,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0012398,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012398,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0012398,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0012401,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0012401,GARD:0022506,GARD:0021605,,Rare hepatic disease +GARD:0012401,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012401,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0012401,GARD:0022531,GARD:0021605,,Rare genetic disease +GARD:0012401,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012401,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0012401,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0012403,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0012403,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012403,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012403,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0012403,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0012403,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0012403,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0012403,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0012403,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0012403,GARD:0022513,GARD:0012782,,Rare developmental defect during embryogenesis +GARD:0012403,GARD:0022531,GARD:0012782,,Rare genetic disease +GARD:0012404,GARD:0022521,GARD:0000457,,Rare endocrine disease +GARD:0012404,GARD:0022534,GARD:0000457,,Rare abdominal surgical disease +GARD:0012404,GARD:0022531,GARD:0000457,,Rare genetic disease +GARD:0012404,GARD:0022513,GARD:0000457,,Rare developmental defect during embryogenesis +GARD:0012404,GARD:0022524,GARD:0000457,,Rare neurologic disease +GARD:0012404,GARD:0022520,GARD:0000457,,Rare ophthalmic disorder +GARD:0012405,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0012405,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0012405,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0012405,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012405,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0012405,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012405,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012409,GARD:0022531,GARD:0021611,,Rare genetic disease +GARD:0012409,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0012409,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0012409,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0012409,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012409,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012409,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0012409,GARD:0022512,GARD:0021611,,Rare renal disease +GARD:0012411,GARD:0022508,GARD:0021344,,Rare inborn errors of metabolism +GARD:0012411,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0012411,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012411,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0012411,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012411,GARD:0022531,GARD:0021344,,Rare genetic disease +GARD:0012412,GARD:0022506,GARD:0021605,,Rare hepatic disease +GARD:0012412,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012412,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0012412,GARD:0022508,GARD:0021344,,Rare inborn errors of metabolism +GARD:0012412,GARD:0022531,GARD:0021605,,Rare genetic disease +GARD:0012412,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012412,GARD:0022531,GARD:0021344,,Rare genetic disease +GARD:0012412,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0012413,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0012413,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0012413,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0012413,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0012413,GARD:0022513,GARD:0021609,,Rare developmental defect during embryogenesis +GARD:0012413,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0012413,GARD:0022506,GARD:0021605,,Rare hepatic disease +GARD:0012413,GARD:0022531,GARD:0021609,,Rare genetic disease +GARD:0012413,GARD:0022531,GARD:0021605,,Rare genetic disease +GARD:0012413,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0012413,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0012416,GARD:0022531,GARD:0021605,,Rare genetic disease +GARD:0012416,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0012416,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012416,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0012416,GARD:0022524,GARD:0012584,,Rare neurologic disease +GARD:0012416,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0012416,GARD:0022531,GARD:0012584,,Rare genetic disease +GARD:0012416,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0012416,GARD:0022506,GARD:0021605,,Rare hepatic disease +GARD:0012416,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012417,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0012417,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012417,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0012417,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012417,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0012417,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0012421,GARD:0022513,GARD:0020916,GARD:0021117,Rare developmental defect during embryogenesis +GARD:0012421,GARD:0022531,GARD:0020916,GARD:0021117,Rare genetic disease +GARD:0012421,GARD:0022513,GARD:0020916,GARD:0012766,Rare developmental defect during embryogenesis +GARD:0012421,GARD:0022531,GARD:0020916,GARD:0012766,Rare genetic disease +GARD:0012426,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012426,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012426,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012428,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0012429,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0012429,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0017714,Rare neurologic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0017891,Rare neurologic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0012446,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0009194,Rare genetic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0017714,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0012429,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0017891,Rare genetic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0009198,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0021447,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0021447,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0017829,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0012434,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0009199,Rare neurologic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0016925,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0012435,Rare genetic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0001250,Rare genetic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0009193,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0009198,Rare neurologic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0017777,Rare neurologic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0001251,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0012446,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0017959,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0021999,Rare genetic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0016925,Rare genetic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0012429,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0021815,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0001248,Rare genetic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0009197,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0009194,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0009199,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0017638,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0012432,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0012434,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0017916,Rare genetic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0017638,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0012447,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0021815,Rare genetic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0009195,Rare genetic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0001251,Rare genetic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0012447,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0009195,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0017829,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0001248,Rare neurologic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0009193,Rare neurologic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0017916,Rare neurologic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0021999,Rare neurologic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0001250,Rare neurologic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0009192,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0017959,Rare genetic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0017777,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0012432,Rare neurologic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0017147,Rare neurologic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0009197,Rare neurologic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0017147,Rare genetic disease +GARD:0012431,GARD:0022531,GARD:0019924,GARD:0009192,Rare genetic disease +GARD:0012431,GARD:0022524,GARD:0019924,GARD:0012435,Rare neurologic disease +GARD:0012432,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0012432,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0012433,GARD:0022524,GARD:0019923,GARD:0009190,Rare neurologic disease +GARD:0012433,GARD:0022524,GARD:0019923,GARD:0009189,Rare neurologic disease +GARD:0012433,GARD:0022531,GARD:0019923,GARD:0001247,Rare genetic disease +GARD:0012433,GARD:0022524,GARD:0019923,GARD:0001245,Rare neurologic disease +GARD:0012433,GARD:0022524,GARD:0019923,GARD:0009191,Rare neurologic disease +GARD:0012433,GARD:0022531,GARD:0019923,GARD:0001245,Rare genetic disease +GARD:0012433,GARD:0022531,GARD:0019923,GARD:0009190,Rare genetic disease +GARD:0012433,GARD:0022531,GARD:0019923,GARD:0009189,Rare genetic disease +GARD:0012433,GARD:0022524,GARD:0019923,GARD:0001247,Rare neurologic disease +GARD:0012433,GARD:0022531,GARD:0019923,GARD:0001246,Rare genetic disease +GARD:0012433,GARD:0022524,GARD:0019923,GARD:0001246,Rare neurologic disease +GARD:0012433,GARD:0022531,GARD:0019923,GARD:0009191,Rare genetic disease +GARD:0012434,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0012434,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0012435,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0012435,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0012435,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0012435,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0012436,GARD:0022531,GARD:0021954,GARD:0009207,Rare genetic disease +GARD:0012436,GARD:0022524,GARD:0021954,GARD:0012011,Rare neurologic disease +GARD:0012436,GARD:0022524,GARD:0021954,GARD:0012439,Rare neurologic disease +GARD:0012436,GARD:0022524,GARD:0021954,GARD:0012437,Rare neurologic disease +GARD:0012436,GARD:0022524,GARD:0021954,GARD:0021446,Rare neurologic disease +GARD:0012436,GARD:0022524,GARD:0021954,GARD:0009207,Rare neurologic disease +GARD:0012436,GARD:0022531,GARD:0021954,GARD:0012438,Rare genetic disease +GARD:0012436,GARD:0022531,GARD:0021954,GARD:0012439,Rare genetic disease +GARD:0012436,GARD:0022531,GARD:0021954,GARD:0021446,Rare genetic disease +GARD:0012436,GARD:0022524,GARD:0021954,GARD:0009206,Rare neurologic disease +GARD:0012436,GARD:0022531,GARD:0021954,GARD:0009206,Rare genetic disease +GARD:0012436,GARD:0022524,GARD:0021954,GARD:0012438,Rare neurologic disease +GARD:0012436,GARD:0022531,GARD:0021954,GARD:0012011,Rare genetic disease +GARD:0012436,GARD:0022531,GARD:0021954,GARD:0012437,Rare genetic disease +GARD:0012437,GARD:0022531,GARD:0012436,,Rare genetic disease +GARD:0012437,GARD:0022524,GARD:0012436,,Rare neurologic disease +GARD:0012438,GARD:0022531,GARD:0012436,,Rare genetic disease +GARD:0012438,GARD:0022524,GARD:0012436,,Rare neurologic disease +GARD:0012439,GARD:0022531,GARD:0012436,,Rare genetic disease +GARD:0012439,GARD:0022524,GARD:0012436,,Rare neurologic disease +GARD:0012440,GARD:0022524,GARD:0019925,GARD:0009203,Rare neurologic disease +GARD:0012440,GARD:0022531,GARD:0019925,GARD:0012443,Rare genetic disease +GARD:0012440,GARD:0022524,GARD:0019925,GARD:0012441,Rare neurologic disease +GARD:0012440,GARD:0022531,GARD:0019925,GARD:0003973,Rare genetic disease +GARD:0012440,GARD:0022524,GARD:0019925,GARD:0010132,Rare neurologic disease +GARD:0012440,GARD:0022531,GARD:0019925,GARD:0017578,Rare genetic disease +GARD:0012440,GARD:0022524,GARD:0019925,GARD:0009200,Rare neurologic disease +GARD:0012440,GARD:0022531,GARD:0019925,GARD:0009203,Rare genetic disease +GARD:0012440,GARD:0022524,GARD:0019925,GARD:0012443,Rare neurologic disease +GARD:0012440,GARD:0022524,GARD:0019925,GARD:0009201,Rare neurologic disease +GARD:0012440,GARD:0022531,GARD:0019925,GARD:0017616,Rare genetic disease +GARD:0012440,GARD:0022531,GARD:0019925,GARD:0009201,Rare genetic disease +GARD:0012440,GARD:0022524,GARD:0019925,GARD:0012442,Rare neurologic disease +GARD:0012440,GARD:0022524,GARD:0019925,GARD:0017616,Rare neurologic disease +GARD:0012440,GARD:0022531,GARD:0019925,GARD:0012442,Rare genetic disease +GARD:0012440,GARD:0022524,GARD:0019925,GARD:0017578,Rare neurologic disease +GARD:0012440,GARD:0022524,GARD:0019925,GARD:0003973,Rare neurologic disease +GARD:0012440,GARD:0022531,GARD:0019925,GARD:0009200,Rare genetic disease +GARD:0012440,GARD:0022531,GARD:0019925,GARD:0012441,Rare genetic disease +GARD:0012440,GARD:0022531,GARD:0019925,GARD:0001253,Rare genetic disease +GARD:0012440,GARD:0022524,GARD:0019925,GARD:0001252,Rare neurologic disease +GARD:0012440,GARD:0022524,GARD:0019925,GARD:0001253,Rare neurologic disease +GARD:0012440,GARD:0022531,GARD:0019925,GARD:0010132,Rare genetic disease +GARD:0012440,GARD:0022531,GARD:0019925,GARD:0001252,Rare genetic disease +GARD:0012441,GARD:0022531,GARD:0012440,,Rare genetic disease +GARD:0012441,GARD:0022524,GARD:0012440,,Rare neurologic disease +GARD:0012442,GARD:0022524,GARD:0012440,,Rare neurologic disease +GARD:0012442,GARD:0022531,GARD:0012440,,Rare genetic disease +GARD:0012443,GARD:0022524,GARD:0012440,,Rare neurologic disease +GARD:0012443,GARD:0022531,GARD:0012440,,Rare genetic disease +GARD:0012444,GARD:0022531,GARD:0019145,GARD:0001240,Rare genetic disease +GARD:0012444,GARD:0022513,GARD:0019145,GARD:0012445,Rare developmental defect during embryogenesis +GARD:0012444,GARD:0022528,GARD:0019145,GARD:0001240,Rare otorhinolaryngologic disease +GARD:0012444,GARD:0022524,GARD:0022440,GARD:0001240,Rare neurologic disease +GARD:0012444,GARD:0022531,GARD:0006034,GARD:0001240,Rare genetic disease +GARD:0012444,GARD:0022531,GARD:0019145,GARD:0000114,Rare genetic disease +GARD:0012444,GARD:0022513,GARD:0019145,GARD:0001258,Rare developmental defect during embryogenesis +GARD:0012444,GARD:0022528,GARD:0019145,GARD:0001243,Rare otorhinolaryngologic disease +GARD:0012444,GARD:0022531,GARD:0006034,GARD:0001244,Rare genetic disease +GARD:0012444,GARD:0022531,GARD:0022440,GARD:0001244,Rare genetic disease +GARD:0012444,GARD:0022531,GARD:0019145,GARD:0012445,Rare genetic disease +GARD:0012444,GARD:0022524,GARD:0006034,GARD:0001240,Rare neurologic disease +GARD:0012444,GARD:0022524,GARD:0022440,GARD:0000114,Rare neurologic disease +GARD:0012444,GARD:0022513,GARD:0019145,GARD:0001244,Rare developmental defect during embryogenesis +GARD:0012444,GARD:0022531,GARD:0022440,GARD:0001258,Rare genetic disease +GARD:0012444,GARD:0022524,GARD:0006034,GARD:0012445,Rare neurologic disease +GARD:0012444,GARD:0022528,GARD:0019145,GARD:0001258,Rare otorhinolaryngologic disease +GARD:0012444,GARD:0022531,GARD:0006034,GARD:0012445,Rare genetic disease +GARD:0012444,GARD:0022531,GARD:0022440,GARD:0012445,Rare genetic disease +GARD:0012444,GARD:0022513,GARD:0019145,GARD:0001243,Rare developmental defect during embryogenesis +GARD:0012444,GARD:0022524,GARD:0022440,GARD:0001258,Rare neurologic disease +GARD:0012444,GARD:0022531,GARD:0022440,GARD:0001243,Rare genetic disease +GARD:0012444,GARD:0022531,GARD:0019145,GARD:0001244,Rare genetic disease +GARD:0012444,GARD:0022524,GARD:0006034,GARD:0001244,Rare neurologic disease +GARD:0012444,GARD:0022531,GARD:0022440,GARD:0000114,Rare genetic disease +GARD:0012444,GARD:0022513,GARD:0019145,GARD:0000114,Rare developmental defect during embryogenesis +GARD:0012444,GARD:0022531,GARD:0006034,GARD:0001258,Rare genetic disease +GARD:0012444,GARD:0022528,GARD:0019145,GARD:0001244,Rare otorhinolaryngologic disease +GARD:0012444,GARD:0022531,GARD:0006034,GARD:0000114,Rare genetic disease +GARD:0012444,GARD:0022531,GARD:0022440,GARD:0001240,Rare genetic disease +GARD:0012444,GARD:0022528,GARD:0019145,GARD:0000114,Rare otorhinolaryngologic disease +GARD:0012444,GARD:0022531,GARD:0019145,GARD:0001243,Rare genetic disease +GARD:0012444,GARD:0022524,GARD:0022440,GARD:0001244,Rare neurologic disease +GARD:0012444,GARD:0022524,GARD:0022440,GARD:0001243,Rare neurologic disease +GARD:0012444,GARD:0022513,GARD:0019145,GARD:0001240,Rare developmental defect during embryogenesis +GARD:0012444,GARD:0022528,GARD:0019145,GARD:0012445,Rare otorhinolaryngologic disease +GARD:0012444,GARD:0022524,GARD:0006034,GARD:0001258,Rare neurologic disease +GARD:0012444,GARD:0022524,GARD:0022440,GARD:0012445,Rare neurologic disease +GARD:0012444,GARD:0022531,GARD:0019145,GARD:0001258,Rare genetic disease +GARD:0012444,GARD:0022524,GARD:0006034,GARD:0001243,Rare neurologic disease +GARD:0012444,GARD:0022531,GARD:0006034,GARD:0001243,Rare genetic disease +GARD:0012444,GARD:0022524,GARD:0006034,GARD:0000114,Rare neurologic disease +GARD:0012445,GARD:0022524,GARD:0012444,,Rare neurologic disease +GARD:0012445,GARD:0022531,GARD:0012444,,Rare genetic disease +GARD:0012445,GARD:0022528,GARD:0012444,,Rare otorhinolaryngologic disease +GARD:0012445,GARD:0022513,GARD:0012444,,Rare developmental defect during embryogenesis +GARD:0012446,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0012446,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0012447,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0012447,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0012448,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0012448,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0016787,Rare neurologic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0018653,Rare genetic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0017153,Rare neurologic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0019123,Rare genetic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0017976,Rare genetic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0019124,Rare neurologic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0017751,Rare neurologic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0022218,Rare genetic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0001249,Rare neurologic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0017909,Rare neurologic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0019123,Rare neurologic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0017833,Rare neurologic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0012353,Rare genetic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0022143,Rare genetic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0018653,Rare neurologic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0012448,Rare genetic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0009196,Rare neurologic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0012451,Rare neurologic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0019124,Rare genetic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0009196,Rare genetic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0016787,Rare genetic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0001249,Rare genetic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0021762,Rare neurologic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0017833,Rare genetic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0012448,Rare neurologic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0017830,Rare genetic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0012353,Rare neurologic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0017751,Rare genetic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0012435,Rare genetic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0017909,Rare genetic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0021904,Rare genetic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0012435,Rare neurologic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0017976,Rare neurologic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0008548,Rare genetic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0021762,Rare genetic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0008548,Rare neurologic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0017830,Rare neurologic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0017153,Rare genetic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0021904,Rare neurologic disease +GARD:0012449,GARD:0022531,GARD:0021951,GARD:0012451,Rare genetic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0022218,Rare neurologic disease +GARD:0012449,GARD:0022524,GARD:0021951,GARD:0022143,Rare neurologic disease +GARD:0012451,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0012451,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0012452,GARD:0022531,GARD:0021954,GARD:0012453,Rare genetic disease +GARD:0012452,GARD:0022524,GARD:0021954,GARD:0012454,Rare neurologic disease +GARD:0012452,GARD:0022524,GARD:0021954,GARD:0017723,Rare neurologic disease +GARD:0012452,GARD:0022531,GARD:0021954,GARD:0017723,Rare genetic disease +GARD:0012452,GARD:0022531,GARD:0021954,GARD:0017587,Rare genetic disease +GARD:0012452,GARD:0022524,GARD:0021954,GARD:0017587,Rare neurologic disease +GARD:0012452,GARD:0022524,GARD:0021954,GARD:0012453,Rare neurologic disease +GARD:0012452,GARD:0022531,GARD:0021954,GARD:0012454,Rare genetic disease +GARD:0012453,GARD:0022524,GARD:0012452,,Rare neurologic disease +GARD:0012453,GARD:0022531,GARD:0012452,,Rare genetic disease +GARD:0012454,GARD:0022531,GARD:0012452,,Rare genetic disease +GARD:0012454,GARD:0022524,GARD:0012452,,Rare neurologic disease +GARD:0012458,GARD:0022522,GARD:0012459,,Rare hematologic disease +GARD:0012458,GARD:0022536,GARD:0012459,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012458,GARD:0022531,GARD:0012459,,Rare genetic disease +GARD:0012459,GARD:0022531,GARD:0021024,GARD:0018648,Rare genetic disease +GARD:0012459,GARD:0022536,GARD:0021024,GARD:0010333,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012459,GARD:0022522,GARD:0021024,GARD:0018648,Rare hematologic disease +GARD:0012459,GARD:0022522,GARD:0021024,GARD:0010333,Rare hematologic disease +GARD:0012459,GARD:0022536,GARD:0021024,GARD:0020700,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012459,GARD:0022536,GARD:0021024,GARD:0006584,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012459,GARD:0022522,GARD:0021024,GARD:0006584,Rare hematologic disease +GARD:0012459,GARD:0022531,GARD:0021024,GARD:0012458,Rare genetic disease +GARD:0012459,GARD:0022536,GARD:0021024,GARD:0018648,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012459,GARD:0022522,GARD:0021024,GARD:0012458,Rare hematologic disease +GARD:0012459,GARD:0022522,GARD:0021024,GARD:0020700,Rare hematologic disease +GARD:0012459,GARD:0022536,GARD:0021024,GARD:0012458,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012459,GARD:0022531,GARD:0021024,GARD:0020700,Rare genetic disease +GARD:0012459,GARD:0022531,GARD:0021024,GARD:0006584,Rare genetic disease +GARD:0012459,GARD:0022531,GARD:0021024,GARD:0010333,Rare genetic disease +GARD:0012469,GARD:0022531,GARD:0020554,,Rare genetic disease +GARD:0012469,GARD:0022524,GARD:0020554,,Rare neurologic disease +GARD:0012469,GARD:0022536,GARD:0012476,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012469,GARD:0022508,GARD:0012476,,Rare inborn errors of metabolism +GARD:0012469,GARD:0022531,GARD:0012476,,Rare genetic disease +GARD:0012470,GARD:0022536,GARD:0012476,GARD:0004543,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012470,GARD:0022536,GARD:0012476,GARD:0005758,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012470,GARD:0022531,GARD:0012476,GARD:0004543,Rare genetic disease +GARD:0012470,GARD:0022531,GARD:0012476,GARD:0004539,Rare genetic disease +GARD:0012470,GARD:0022508,GARD:0012476,GARD:0005758,Rare inborn errors of metabolism +GARD:0012470,GARD:0022531,GARD:0012476,GARD:0012471,Rare genetic disease +GARD:0012470,GARD:0022531,GARD:0012476,GARD:0005758,Rare genetic disease +GARD:0012470,GARD:0022508,GARD:0012476,GARD:0004543,Rare inborn errors of metabolism +GARD:0012470,GARD:0022508,GARD:0012476,GARD:0004539,Rare inborn errors of metabolism +GARD:0012470,GARD:0022508,GARD:0012476,GARD:0012471,Rare inborn errors of metabolism +GARD:0012470,GARD:0022536,GARD:0012476,GARD:0012471,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012470,GARD:0022536,GARD:0012476,GARD:0004539,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012471,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0012471,GARD:0022531,GARD:0012470,,Rare genetic disease +GARD:0012471,GARD:0022508,GARD:0012470,,Rare inborn errors of metabolism +GARD:0012471,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0012471,GARD:0022536,GARD:0012470,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012472,GARD:0022513,GARD:0019900,,Rare developmental defect during embryogenesis +GARD:0012472,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0012472,GARD:0022508,GARD:0018885,,Rare inborn errors of metabolism +GARD:0012472,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0012472,GARD:0022531,GARD:0019900,,Rare genetic disease +GARD:0012472,GARD:0022531,GARD:0018885,,Rare genetic disease +GARD:0012472,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0012472,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0012472,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0012472,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0012474,GARD:0022513,GARD:0006322,GARD:0016209,Rare developmental defect during embryogenesis +GARD:0012474,GARD:0022525,GARD:0006322,GARD:0016209,Rare systemic or rheumatologic disease +GARD:0012474,GARD:0022510,GARD:0006322,GARD:0016209,Rare skin disease +GARD:0012474,GARD:0022531,GARD:0006322,GARD:0016209,Rare genetic disease +GARD:0012474,GARD:0022526,GARD:0019388,GARD:0016209,Rare odontologic disease +GARD:0012476,GARD:0022536,GARD:0022063,GARD:0012469,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012476,GARD:0022508,GARD:0018885,GARD:0000363,Rare inborn errors of metabolism +GARD:0012476,GARD:0022531,GARD:0018885,GARD:0012469,Rare genetic disease +GARD:0012476,GARD:0022531,GARD:0018885,GARD:0000363,Rare genetic disease +GARD:0012476,GARD:0022508,GARD:0018885,GARD:0002835,Rare inborn errors of metabolism +GARD:0012476,GARD:0022531,GARD:0018885,GARD:0010046,Rare genetic disease +GARD:0012476,GARD:0022536,GARD:0022063,GARD:0010046,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012476,GARD:0022531,GARD:0018885,GARD:0012470,Rare genetic disease +GARD:0012476,GARD:0022536,GARD:0022063,GARD:0005691,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012476,GARD:0022508,GARD:0018885,GARD:0010046,Rare inborn errors of metabolism +GARD:0012476,GARD:0022508,GARD:0018885,GARD:0012469,Rare inborn errors of metabolism +GARD:0012476,GARD:0022531,GARD:0018885,GARD:0005691,Rare genetic disease +GARD:0012476,GARD:0022508,GARD:0018885,GARD:0005691,Rare inborn errors of metabolism +GARD:0012476,GARD:0022508,GARD:0018885,GARD:0012470,Rare inborn errors of metabolism +GARD:0012476,GARD:0022531,GARD:0018885,GARD:0002835,Rare genetic disease +GARD:0012476,GARD:0022536,GARD:0022063,GARD:0002835,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012476,GARD:0022536,GARD:0022063,GARD:0012470,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012476,GARD:0022536,GARD:0022063,GARD:0000363,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012478,GARD:0022522,GARD:0021020,,Rare hematologic disease +GARD:0012478,GARD:0022531,GARD:0021020,,Rare genetic disease +GARD:0012480,GARD:0022513,GARD:0019420,,Rare developmental defect during embryogenesis +GARD:0012480,GARD:0022531,GARD:0019420,,Rare genetic disease +GARD:0012483,GARD:0022519,GARD:0006194,,Rare surgical cardiac disease +GARD:0012483,GARD:0022513,GARD:0006194,,Rare developmental defect during embryogenesis +GARD:0012484,GARD:0022519,GARD:0006194,,Rare surgical cardiac disease +GARD:0012484,GARD:0022513,GARD:0006194,,Rare developmental defect during embryogenesis +GARD:0012486,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0012486,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012486,GARD:0022531,GARD:0022084,,Rare genetic disease +GARD:0012486,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0012486,GARD:0022531,GARD:0021010,,Rare genetic disease +GARD:0012486,GARD:0022520,GARD:0022084,,Rare ophthalmic disorder +GARD:0012486,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012486,GARD:0022531,GARD:0022117,,Rare genetic disease +GARD:0012486,GARD:0022520,GARD:0022117,,Rare ophthalmic disorder +GARD:0012486,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012486,GARD:0022513,GARD:0022084,,Rare developmental defect during embryogenesis +GARD:0012486,GARD:0022513,GARD:0022117,,Rare developmental defect during embryogenesis +GARD:0012487,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012487,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012487,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012487,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0012487,GARD:0022531,GARD:0021010,,Rare genetic disease +GARD:0012487,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0012491,GARD:0022531,GARD:0021753,,Rare genetic disease +GARD:0012491,GARD:0022513,GARD:0019820,,Rare developmental defect during embryogenesis +GARD:0012491,GARD:0022532,GARD:0021753,,Rare urogenital disease +GARD:0012491,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0012491,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0012491,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0012491,GARD:0022524,GARD:0019820,,Rare neurologic disease +GARD:0012491,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0012491,GARD:0022531,GARD:0019820,,Rare genetic disease +GARD:0012491,GARD:0022513,GARD:0021753,,Rare developmental defect during embryogenesis +GARD:0012491,GARD:0022524,GARD:0021753,,Rare neurologic disease +GARD:0012492,GARD:0022531,GARD:0020820,,Rare genetic disease +GARD:0012492,GARD:0022513,GARD:0020820,,Rare developmental defect during embryogenesis +GARD:0012494,GARD:0022531,GARD:0021808,,Rare genetic disease +GARD:0012494,GARD:0022514,GARD:0021807,,Rare gynecologic or obstetric disease +GARD:0012494,GARD:0022531,GARD:0020141,,Rare genetic disease +GARD:0012494,GARD:0022521,GARD:0020141,,Rare endocrine disease +GARD:0012501,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012501,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012501,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012502,GARD:0022529,GARD:0017654,GARD:0015735,Rare infertility +GARD:0012502,GARD:0022531,GARD:0017654,GARD:0015735,Rare genetic disease +GARD:0012502,GARD:0022529,GARD:0017654,GARD:0015032,Rare infertility +GARD:0012502,GARD:0022531,GARD:0017654,GARD:0015032,Rare genetic disease +GARD:0012503,GARD:0022508,GARD:0008233,,Rare inborn errors of metabolism +GARD:0012503,GARD:0022531,GARD:0008233,,Rare genetic disease +GARD:0012503,GARD:0022536,GARD:0008233,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012504,GARD:0022531,GARD:0008233,,Rare genetic disease +GARD:0012504,GARD:0022536,GARD:0008233,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012504,GARD:0022520,GARD:0019547,,Rare ophthalmic disorder +GARD:0012504,GARD:0022531,GARD:0019547,,Rare genetic disease +GARD:0012504,GARD:0022508,GARD:0008233,,Rare inborn errors of metabolism +GARD:0012505,GARD:0022536,GARD:0007672,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012505,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0012505,GARD:0022524,GARD:0021615,,Rare neurologic disease +GARD:0012505,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0012505,GARD:0022531,GARD:0007672,,Rare genetic disease +GARD:0012505,GARD:0022508,GARD:0007672,,Rare inborn errors of metabolism +GARD:0012505,GARD:0022531,GARD:0021615,,Rare genetic disease +GARD:0012510,GARD:0022524,GARD:0021615,GARD:0021323,Rare neurologic disease +GARD:0012510,GARD:0022536,GARD:0007672,GARD:0010891,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012510,GARD:0022531,GARD:0007672,GARD:0010891,Rare genetic disease +GARD:0012510,GARD:0022508,GARD:0007672,GARD:0010891,Rare inborn errors of metabolism +GARD:0012510,GARD:0022536,GARD:0007672,GARD:0021323,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012510,GARD:0022531,GARD:0007672,GARD:0021323,Rare genetic disease +GARD:0012510,GARD:0022531,GARD:0021615,GARD:0021323,Rare genetic disease +GARD:0012510,GARD:0022524,GARD:0021615,GARD:0010891,Rare neurologic disease +GARD:0012510,GARD:0022508,GARD:0007672,GARD:0021323,Rare inborn errors of metabolism +GARD:0012510,GARD:0022531,GARD:0021615,GARD:0010891,Rare genetic disease +GARD:0012511,GARD:0022536,GARD:0007672,GARD:0012097,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012511,GARD:0022531,GARD:0007672,GARD:0012097,Rare genetic disease +GARD:0012511,GARD:0022531,GARD:0007672,GARD:0007207,Rare genetic disease +GARD:0012511,GARD:0022508,GARD:0007672,GARD:0012097,Rare inborn errors of metabolism +GARD:0012511,GARD:0022508,GARD:0007672,GARD:0007207,Rare inborn errors of metabolism +GARD:0012511,GARD:0022536,GARD:0007672,GARD:0007207,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012513,GARD:0022531,GARD:0021675,GARD:0017654,Rare genetic disease +GARD:0012513,GARD:0022529,GARD:0021675,GARD:0017654,Rare infertility +GARD:0012513,GARD:0022529,GARD:0021675,GARD:0008530,Rare infertility +GARD:0012513,GARD:0022531,GARD:0021675,GARD:0008530,Rare genetic disease +GARD:0012521,GARD:0022525,GARD:0020256,GARD:0022240,Rare systemic or rheumatologic disease +GARD:0012521,GARD:0022525,GARD:0020256,GARD:0010911,Rare systemic or rheumatologic disease +GARD:0012521,GARD:0022525,GARD:0020256,GARD:0021886,Rare systemic or rheumatologic disease +GARD:0012521,GARD:0022525,GARD:0020256,GARD:0021889,Rare systemic or rheumatologic disease +GARD:0012521,GARD:0022525,GARD:0020256,GARD:0021888,Rare systemic or rheumatologic disease +GARD:0012521,GARD:0022525,GARD:0020256,GARD:0022391,Rare systemic or rheumatologic disease +GARD:0012524,GARD:0022524,GARD:0020339,GARD:0000434,Rare neurologic disease +GARD:0012524,GARD:0022513,GARD:0020339,GARD:0006986,Rare developmental defect during embryogenesis +GARD:0012524,GARD:0022513,GARD:0020339,GARD:0000434,Rare developmental defect during embryogenesis +GARD:0012524,GARD:0022524,GARD:0020339,GARD:0012525,Rare neurologic disease +GARD:0012524,GARD:0022524,GARD:0022440,GARD:0006986,Rare neurologic disease +GARD:0012524,GARD:0022531,GARD:0022440,GARD:0006986,Rare genetic disease +GARD:0012524,GARD:0022513,GARD:0020339,GARD:0012526,Rare developmental defect during embryogenesis +GARD:0012524,GARD:0022513,GARD:0020339,GARD:0012525,Rare developmental defect during embryogenesis +GARD:0012524,GARD:0022524,GARD:0022440,GARD:0012525,Rare neurologic disease +GARD:0012524,GARD:0022531,GARD:0021010,GARD:0012525,Rare genetic disease +GARD:0012524,GARD:0022524,GARD:0020339,GARD:0012526,Rare neurologic disease +GARD:0012524,GARD:0022531,GARD:0022440,GARD:0000434,Rare genetic disease +GARD:0012524,GARD:0022531,GARD:0021010,GARD:0012526,Rare genetic disease +GARD:0012524,GARD:0022531,GARD:0021010,GARD:0000434,Rare genetic disease +GARD:0012524,GARD:0022531,GARD:0022440,GARD:0012526,Rare genetic disease +GARD:0012524,GARD:0022531,GARD:0022440,GARD:0012525,Rare genetic disease +GARD:0012524,GARD:0022524,GARD:0022440,GARD:0012526,Rare neurologic disease +GARD:0012524,GARD:0022531,GARD:0021010,GARD:0006986,Rare genetic disease +GARD:0012524,GARD:0022524,GARD:0022440,GARD:0000434,Rare neurologic disease +GARD:0012524,GARD:0022524,GARD:0020339,GARD:0006986,Rare neurologic disease +GARD:0012525,GARD:0022513,GARD:0012524,,Rare developmental defect during embryogenesis +GARD:0012525,GARD:0022524,GARD:0012524,,Rare neurologic disease +GARD:0012525,GARD:0022531,GARD:0012524,,Rare genetic disease +GARD:0012526,GARD:0022531,GARD:0012524,,Rare genetic disease +GARD:0012526,GARD:0022513,GARD:0012524,,Rare developmental defect during embryogenesis +GARD:0012526,GARD:0022524,GARD:0012524,,Rare neurologic disease +GARD:0012528,GARD:0022531,GARD:0019824,,Rare genetic disease +GARD:0012528,GARD:0022524,GARD:0019824,,Rare neurologic disease +GARD:0012530,GARD:0022531,GARD:0019824,,Rare genetic disease +GARD:0012530,GARD:0022524,GARD:0019824,,Rare neurologic disease +GARD:0012531,GARD:0022531,GARD:0019824,,Rare genetic disease +GARD:0012531,GARD:0022524,GARD:0019824,,Rare neurologic disease +GARD:0012532,GARD:0022531,GARD:0019824,,Rare genetic disease +GARD:0012532,GARD:0022524,GARD:0019824,,Rare neurologic disease +GARD:0012533,GARD:0022531,GARD:0020403,,Rare genetic disease +GARD:0012533,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0012533,GARD:0022508,GARD:0021340,,Rare inborn errors of metabolism +GARD:0012533,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0012533,GARD:0022531,GARD:0021340,,Rare genetic disease +GARD:0012533,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0012533,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0012534,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0012534,GARD:0022531,GARD:0020430,,Rare genetic disease +GARD:0012534,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0012535,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0012535,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012535,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0012535,GARD:0022531,GARD:0020423,,Rare genetic disease +GARD:0012535,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012535,GARD:0022508,GARD:0021340,,Rare inborn errors of metabolism +GARD:0012535,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0012535,GARD:0022531,GARD:0021340,,Rare genetic disease +GARD:0012535,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0012536,GARD:0022531,GARD:0020404,,Rare genetic disease +GARD:0012536,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0012536,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0012538,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0012538,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0012538,GARD:0022515,GARD:0020526,,Rare cardiac disease +GARD:0012538,GARD:0022515,GARD:0021606,,Rare cardiac disease +GARD:0012538,GARD:0022531,GARD:0020526,,Rare genetic disease +GARD:0012538,GARD:0022508,GARD:0021340,,Rare inborn errors of metabolism +GARD:0012538,GARD:0022531,GARD:0021340,,Rare genetic disease +GARD:0012538,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0012538,GARD:0022536,GARD:0021606,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012538,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0012538,GARD:0022531,GARD:0020404,,Rare genetic disease +GARD:0012538,GARD:0022536,GARD:0020526,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012538,GARD:0022531,GARD:0021606,,Rare genetic disease +GARD:0012539,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012539,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012539,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0012539,GARD:0022531,GARD:0021340,,Rare genetic disease +GARD:0012539,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0012539,GARD:0022508,GARD:0021340,,Rare inborn errors of metabolism +GARD:0012539,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0012539,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0012539,GARD:0022531,GARD:0020424,,Rare genetic disease +GARD:0012540,GARD:0022508,GARD:0021340,,Rare inborn errors of metabolism +GARD:0012540,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0012540,GARD:0022531,GARD:0021340,,Rare genetic disease +GARD:0012540,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0012540,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0012540,GARD:0022531,GARD:0020421,,Rare genetic disease +GARD:0012540,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0012541,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012541,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0012541,GARD:0022531,GARD:0021602,,Rare genetic disease +GARD:0012541,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012541,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0012541,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0012541,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0012542,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0012542,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0012542,GARD:0022531,GARD:0020437,,Rare genetic disease +GARD:0012543,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0012543,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0012544,GARD:0022508,GARD:0021340,,Rare inborn errors of metabolism +GARD:0012544,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0012544,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0012544,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012544,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012544,GARD:0022531,GARD:0021340,,Rare genetic disease +GARD:0012544,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0012544,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0012547,GARD:0022531,GARD:0021512,,Rare genetic disease +GARD:0012547,GARD:0022523,GARD:0021512,,Rare immune disease +GARD:0012550,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0012550,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0012551,GARD:0022524,GARD:0022440,GARD:0015814,Rare neurologic disease +GARD:0012551,GARD:0022531,GARD:0020287,GARD:0015086,Rare genetic disease +GARD:0012551,GARD:0022524,GARD:0019817,GARD:0016333,Rare neurologic disease +GARD:0012551,GARD:0022531,GARD:0020287,GARD:0016333,Rare genetic disease +GARD:0012551,GARD:0022524,GARD:0019817,GARD:0016055,Rare neurologic disease +GARD:0012551,GARD:0022524,GARD:0019817,GARD:0015086,Rare neurologic disease +GARD:0012551,GARD:0022531,GARD:0022440,GARD:0015086,Rare genetic disease +GARD:0012551,GARD:0022524,GARD:0022440,GARD:0015086,Rare neurologic disease +GARD:0012551,GARD:0022531,GARD:0022440,GARD:0016333,Rare genetic disease +GARD:0012551,GARD:0022524,GARD:0022440,GARD:0016055,Rare neurologic disease +GARD:0012551,GARD:0022531,GARD:0020287,GARD:0016055,Rare genetic disease +GARD:0012551,GARD:0022531,GARD:0020287,GARD:0015814,Rare genetic disease +GARD:0012551,GARD:0022531,GARD:0022440,GARD:0016055,Rare genetic disease +GARD:0012551,GARD:0022524,GARD:0022440,GARD:0016333,Rare neurologic disease +GARD:0012551,GARD:0022531,GARD:0022440,GARD:0015814,Rare genetic disease +GARD:0012551,GARD:0022524,GARD:0019817,GARD:0015814,Rare neurologic disease +GARD:0012556,GARD:0022531,GARD:0019272,GARD:0000408,Rare genetic disease +GARD:0012556,GARD:0022521,GARD:0019272,GARD:0001696,Rare endocrine disease +GARD:0012556,GARD:0022521,GARD:0019272,GARD:0003921,Rare endocrine disease +GARD:0012556,GARD:0022531,GARD:0019272,GARD:0003919,Rare genetic disease +GARD:0012556,GARD:0022531,GARD:0019272,GARD:0007399,Rare genetic disease +GARD:0012556,GARD:0022531,GARD:0019272,GARD:0003921,Rare genetic disease +GARD:0012556,GARD:0022521,GARD:0019272,GARD:0007399,Rare endocrine disease +GARD:0012556,GARD:0022521,GARD:0019272,GARD:0003919,Rare endocrine disease +GARD:0012556,GARD:0022521,GARD:0019272,GARD:0000408,Rare endocrine disease +GARD:0012556,GARD:0022531,GARD:0019272,GARD:0001696,Rare genetic disease +GARD:0012558,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0012558,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0012559,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012559,GARD:0022536,GARD:0020520,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012559,GARD:0022524,GARD:0010335,,Rare neurologic disease +GARD:0012559,GARD:0022531,GARD:0020533,,Rare genetic disease +GARD:0012559,GARD:0022520,GARD:0010335,,Rare ophthalmic disorder +GARD:0012559,GARD:0022508,GARD:0010335,,Rare inborn errors of metabolism +GARD:0012559,GARD:0022531,GARD:0010335,,Rare genetic disease +GARD:0012559,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012559,GARD:0022536,GARD:0010335,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012559,GARD:0022531,GARD:0020520,,Rare genetic disease +GARD:0012559,GARD:0022515,GARD:0020520,,Rare cardiac disease +GARD:0012559,GARD:0022511,GARD:0010335,,Rare bone disease +GARD:0012559,GARD:0022536,GARD:0020533,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012559,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012559,GARD:0022513,GARD:0010335,,Rare developmental defect during embryogenesis +GARD:0012559,GARD:0022515,GARD:0020533,,Rare cardiac disease +GARD:0012560,GARD:0022513,GARD:0010335,,Rare developmental defect during embryogenesis +GARD:0012560,GARD:0022515,GARD:0020520,,Rare cardiac disease +GARD:0012560,GARD:0022524,GARD:0010335,,Rare neurologic disease +GARD:0012560,GARD:0022536,GARD:0010335,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012560,GARD:0022531,GARD:0010335,,Rare genetic disease +GARD:0012560,GARD:0022508,GARD:0010335,,Rare inborn errors of metabolism +GARD:0012560,GARD:0022536,GARD:0020520,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012560,GARD:0022511,GARD:0010335,,Rare bone disease +GARD:0012560,GARD:0022520,GARD:0010335,,Rare ophthalmic disorder +GARD:0012560,GARD:0022531,GARD:0020520,,Rare genetic disease +GARD:0012561,GARD:0022524,GARD:0010335,,Rare neurologic disease +GARD:0012561,GARD:0022520,GARD:0010335,,Rare ophthalmic disorder +GARD:0012561,GARD:0022536,GARD:0010335,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012561,GARD:0022513,GARD:0010335,,Rare developmental defect during embryogenesis +GARD:0012561,GARD:0022531,GARD:0010335,,Rare genetic disease +GARD:0012561,GARD:0022508,GARD:0010335,,Rare inborn errors of metabolism +GARD:0012561,GARD:0022511,GARD:0010335,,Rare bone disease +GARD:0012562,GARD:0022531,GARD:0019203,GARD:0003786,Rare genetic disease +GARD:0012562,GARD:0022531,GARD:0019203,GARD:0003785,Rare genetic disease +GARD:0012562,GARD:0022511,GARD:0019203,GARD:0003786,Rare bone disease +GARD:0012562,GARD:0022511,GARD:0019203,GARD:0003785,Rare bone disease +GARD:0012562,GARD:0022520,GARD:0007065,GARD:0003786,Rare ophthalmic disorder +GARD:0012562,GARD:0022531,GARD:0007065,GARD:0003786,Rare genetic disease +GARD:0012562,GARD:0022513,GARD:0007065,GARD:0003786,Rare developmental defect during embryogenesis +GARD:0012562,GARD:0022531,GARD:0007065,GARD:0003785,Rare genetic disease +GARD:0012562,GARD:0022508,GARD:0007065,GARD:0003786,Rare inborn errors of metabolism +GARD:0012562,GARD:0022508,GARD:0007065,GARD:0003785,Rare inborn errors of metabolism +GARD:0012562,GARD:0022511,GARD:0007065,GARD:0003785,Rare bone disease +GARD:0012562,GARD:0022520,GARD:0007065,GARD:0003785,Rare ophthalmic disorder +GARD:0012562,GARD:0022536,GARD:0007065,GARD:0003786,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012562,GARD:0022513,GARD:0007065,GARD:0003785,Rare developmental defect during embryogenesis +GARD:0012562,GARD:0022536,GARD:0007065,GARD:0003785,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012562,GARD:0022511,GARD:0007065,GARD:0003786,Rare bone disease +GARD:0012567,GARD:0022508,GARD:0021517,GARD:0012568,Rare inborn errors of metabolism +GARD:0012567,GARD:0022531,GARD:0011899,GARD:0012568,Rare genetic disease +GARD:0012567,GARD:0022508,GARD:0021517,GARD:0003957,Rare inborn errors of metabolism +GARD:0012567,GARD:0022531,GARD:0011899,GARD:0003957,Rare genetic disease +GARD:0012567,GARD:0022524,GARD:0011899,GARD:0012568,Rare neurologic disease +GARD:0012567,GARD:0022531,GARD:0021517,GARD:0003957,Rare genetic disease +GARD:0012567,GARD:0022531,GARD:0021517,GARD:0012568,Rare genetic disease +GARD:0012567,GARD:0022524,GARD:0011899,GARD:0003957,Rare neurologic disease +GARD:0012568,GARD:0022524,GARD:0012567,,Rare neurologic disease +GARD:0012568,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0012568,GARD:0022524,GARD:0021628,,Rare neurologic disease +GARD:0012568,GARD:0022508,GARD:0012567,,Rare inborn errors of metabolism +GARD:0012568,GARD:0022531,GARD:0021628,,Rare genetic disease +GARD:0012568,GARD:0022531,GARD:0021284,,Rare genetic disease +GARD:0012568,GARD:0022531,GARD:0012567,,Rare genetic disease +GARD:0012569,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0012569,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0012569,GARD:0022524,GARD:0011899,,Rare neurologic disease +GARD:0012569,GARD:0022531,GARD:0011899,,Rare genetic disease +GARD:0012570,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012570,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012570,GARD:0022524,GARD:0011899,,Rare neurologic disease +GARD:0012570,GARD:0022531,GARD:0011899,,Rare genetic disease +GARD:0012571,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012571,GARD:0022531,GARD:0011899,,Rare genetic disease +GARD:0012571,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012571,GARD:0022524,GARD:0011899,,Rare neurologic disease +GARD:0012584,GARD:0022531,GARD:0009138,GARD:0012416,Rare genetic disease +GARD:0012584,GARD:0022531,GARD:0009138,GARD:0012395,Rare genetic disease +GARD:0012584,GARD:0022531,GARD:0009138,GARD:0017606,Rare genetic disease +GARD:0012584,GARD:0022524,GARD:0009138,GARD:0017605,Rare neurologic disease +GARD:0012584,GARD:0022524,GARD:0009138,GARD:0012588,Rare neurologic disease +GARD:0012584,GARD:0022524,GARD:0009138,GARD:0017606,Rare neurologic disease +GARD:0012584,GARD:0022531,GARD:0009138,GARD:0017605,Rare genetic disease +GARD:0012584,GARD:0022531,GARD:0009138,GARD:0017607,Rare genetic disease +GARD:0012584,GARD:0022524,GARD:0009138,GARD:0012416,Rare neurologic disease +GARD:0012584,GARD:0022524,GARD:0009138,GARD:0017607,Rare neurologic disease +GARD:0012584,GARD:0022524,GARD:0009138,GARD:0012395,Rare neurologic disease +GARD:0012584,GARD:0022531,GARD:0009138,GARD:0012588,Rare genetic disease +GARD:0012585,GARD:0022531,GARD:0009138,,Rare genetic disease +GARD:0012585,GARD:0022531,GARD:0021240,,Rare genetic disease +GARD:0012585,GARD:0022524,GARD:0009138,,Rare neurologic disease +GARD:0012586,GARD:0022524,GARD:0009138,,Rare neurologic disease +GARD:0012586,GARD:0022531,GARD:0009138,,Rare genetic disease +GARD:0012587,GARD:0022524,GARD:0009138,,Rare neurologic disease +GARD:0012587,GARD:0022531,GARD:0020397,,Rare genetic disease +GARD:0012587,GARD:0022531,GARD:0009138,,Rare genetic disease +GARD:0012588,GARD:0022513,GARD:0003277,GARD:0006475,Rare developmental defect during embryogenesis +GARD:0012588,GARD:0022524,GARD:0012584,GARD:0000156,Rare neurologic disease +GARD:0012588,GARD:0022531,GARD:0012584,GARD:0002599,Rare genetic disease +GARD:0012588,GARD:0022513,GARD:0003277,GARD:0017608,Rare developmental defect during embryogenesis +GARD:0012588,GARD:0022513,GARD:0003277,GARD:0000156,Rare developmental defect during embryogenesis +GARD:0012588,GARD:0022531,GARD:0012584,GARD:0017608,Rare genetic disease +GARD:0012588,GARD:0022524,GARD:0003277,GARD:0000156,Rare neurologic disease +GARD:0012588,GARD:0022531,GARD:0003277,GARD:0006475,Rare genetic disease +GARD:0012588,GARD:0022513,GARD:0003277,GARD:0002599,Rare developmental defect during embryogenesis +GARD:0012588,GARD:0022531,GARD:0012584,GARD:0006475,Rare genetic disease +GARD:0012588,GARD:0022524,GARD:0003277,GARD:0006475,Rare neurologic disease +GARD:0012588,GARD:0022524,GARD:0012584,GARD:0002599,Rare neurologic disease +GARD:0012588,GARD:0022524,GARD:0003277,GARD:0017608,Rare neurologic disease +GARD:0012588,GARD:0022524,GARD:0012584,GARD:0006475,Rare neurologic disease +GARD:0012588,GARD:0022531,GARD:0003277,GARD:0017608,Rare genetic disease +GARD:0012588,GARD:0022524,GARD:0012584,GARD:0017608,Rare neurologic disease +GARD:0012588,GARD:0022524,GARD:0003277,GARD:0002599,Rare neurologic disease +GARD:0012588,GARD:0022531,GARD:0003277,GARD:0002599,Rare genetic disease +GARD:0012588,GARD:0022531,GARD:0003277,GARD:0000156,Rare genetic disease +GARD:0012588,GARD:0022531,GARD:0012584,GARD:0000156,Rare genetic disease +GARD:0012590,GARD:0022513,GARD:0019507,GARD:0015466,Rare developmental defect during embryogenesis +GARD:0012590,GARD:0022531,GARD:0019507,GARD:0015466,Rare genetic disease +GARD:0012590,GARD:0022520,GARD:0019542,GARD:0015466,Rare ophthalmic disorder +GARD:0012590,GARD:0022520,GARD:0019542,GARD:0015321,Rare ophthalmic disorder +GARD:0012590,GARD:0022531,GARD:0019507,GARD:0009814,Rare genetic disease +GARD:0012590,GARD:0022531,GARD:0020360,GARD:0015466,Rare genetic disease +GARD:0012590,GARD:0022531,GARD:0019507,GARD:0015341,Rare genetic disease +GARD:0012590,GARD:0022531,GARD:0020360,GARD:0015341,Rare genetic disease +GARD:0012590,GARD:0022524,GARD:0020360,GARD:0009814,Rare neurologic disease +GARD:0012590,GARD:0022513,GARD:0019507,GARD:0015321,Rare developmental defect during embryogenesis +GARD:0012590,GARD:0022520,GARD:0019507,GARD:0015466,Rare ophthalmic disorder +GARD:0012590,GARD:0022520,GARD:0019507,GARD:0015341,Rare ophthalmic disorder +GARD:0012590,GARD:0022524,GARD:0020360,GARD:0015341,Rare neurologic disease +GARD:0012590,GARD:0022531,GARD:0020360,GARD:0009814,Rare genetic disease +GARD:0012590,GARD:0022531,GARD:0020360,GARD:0015459,Rare genetic disease +GARD:0012590,GARD:0022520,GARD:0019507,GARD:0015321,Rare ophthalmic disorder +GARD:0012590,GARD:0022520,GARD:0019542,GARD:0015459,Rare ophthalmic disorder +GARD:0012590,GARD:0022531,GARD:0022157,GARD:0009814,Rare genetic disease +GARD:0012590,GARD:0022524,GARD:0020360,GARD:0015459,Rare neurologic disease +GARD:0012590,GARD:0022531,GARD:0020360,GARD:0015321,Rare genetic disease +GARD:0012590,GARD:0022531,GARD:0022157,GARD:0015321,Rare genetic disease +GARD:0012590,GARD:0022520,GARD:0019507,GARD:0015459,Rare ophthalmic disorder +GARD:0012590,GARD:0022531,GARD:0019507,GARD:0015321,Rare genetic disease +GARD:0012590,GARD:0022520,GARD:0019542,GARD:0009814,Rare ophthalmic disorder +GARD:0012590,GARD:0022520,GARD:0019507,GARD:0009814,Rare ophthalmic disorder +GARD:0012590,GARD:0022531,GARD:0022157,GARD:0015466,Rare genetic disease +GARD:0012590,GARD:0022513,GARD:0019507,GARD:0015341,Rare developmental defect during embryogenesis +GARD:0012590,GARD:0022524,GARD:0020360,GARD:0015321,Rare neurologic disease +GARD:0012590,GARD:0022513,GARD:0019507,GARD:0015459,Rare developmental defect during embryogenesis +GARD:0012590,GARD:0022520,GARD:0019542,GARD:0015341,Rare ophthalmic disorder +GARD:0012590,GARD:0022531,GARD:0022157,GARD:0015459,Rare genetic disease +GARD:0012590,GARD:0022524,GARD:0020360,GARD:0015466,Rare neurologic disease +GARD:0012590,GARD:0022513,GARD:0019507,GARD:0009814,Rare developmental defect during embryogenesis +GARD:0012590,GARD:0022531,GARD:0019507,GARD:0015459,Rare genetic disease +GARD:0012590,GARD:0022531,GARD:0022157,GARD:0015341,Rare genetic disease +GARD:0012591,GARD:0022531,GARD:0020430,,Rare genetic disease +GARD:0012591,GARD:0022524,GARD:0020360,,Rare neurologic disease +GARD:0012591,GARD:0022531,GARD:0020360,,Rare genetic disease +GARD:0012591,GARD:0022531,GARD:0020364,,Rare genetic disease +GARD:0012591,GARD:0022524,GARD:0020364,,Rare neurologic disease +GARD:0012592,GARD:0022531,GARD:0022158,GARD:0015097,Rare genetic disease +GARD:0012592,GARD:0022531,GARD:0020361,GARD:0016397,Rare genetic disease +GARD:0012592,GARD:0022531,GARD:0020361,GARD:0015097,Rare genetic disease +GARD:0012592,GARD:0022520,GARD:0019507,GARD:0015097,Rare ophthalmic disorder +GARD:0012592,GARD:0022513,GARD:0019507,GARD:0015097,Rare developmental defect during embryogenesis +GARD:0012592,GARD:0022531,GARD:0020362,GARD:0015097,Rare genetic disease +GARD:0012592,GARD:0022524,GARD:0020362,GARD:0015097,Rare neurologic disease +GARD:0012592,GARD:0022524,GARD:0020362,GARD:0016397,Rare neurologic disease +GARD:0012592,GARD:0022531,GARD:0022158,GARD:0016397,Rare genetic disease +GARD:0012592,GARD:0022524,GARD:0020361,GARD:0016397,Rare neurologic disease +GARD:0012592,GARD:0022520,GARD:0022118,GARD:0015097,Rare ophthalmic disorder +GARD:0012592,GARD:0022524,GARD:0020360,GARD:0015097,Rare neurologic disease +GARD:0012592,GARD:0022531,GARD:0020360,GARD:0015097,Rare genetic disease +GARD:0012592,GARD:0022531,GARD:0020362,GARD:0016397,Rare genetic disease +GARD:0012592,GARD:0022524,GARD:0020361,GARD:0015097,Rare neurologic disease +GARD:0012592,GARD:0022531,GARD:0019507,GARD:0015097,Rare genetic disease +GARD:0012592,GARD:0022520,GARD:0019507,GARD:0016397,Rare ophthalmic disorder +GARD:0012592,GARD:0022520,GARD:0022118,GARD:0016397,Rare ophthalmic disorder +GARD:0012592,GARD:0022531,GARD:0020360,GARD:0016397,Rare genetic disease +GARD:0012592,GARD:0022513,GARD:0019507,GARD:0016397,Rare developmental defect during embryogenesis +GARD:0012592,GARD:0022531,GARD:0019507,GARD:0016397,Rare genetic disease +GARD:0012592,GARD:0022524,GARD:0020360,GARD:0016397,Rare neurologic disease +GARD:0012596,GARD:0022510,GARD:0019011,GARD:0012602,Rare skin disease +GARD:0012596,GARD:0022521,GARD:0022521,GARD:0012597,Rare endocrine disease +GARD:0012596,GARD:0022521,GARD:0022521,GARD:0012602,Rare endocrine disease +GARD:0012596,GARD:0022510,GARD:0019011,GARD:0012597,Rare skin disease +GARD:0012597,GARD:0022510,GARD:0012596,GARD:0012604,Rare skin disease +GARD:0012597,GARD:0022510,GARD:0012596,GARD:0007633,Rare skin disease +GARD:0012597,GARD:0022521,GARD:0012596,GARD:0010989,Rare endocrine disease +GARD:0012597,GARD:0022531,GARD:0020011,GARD:0011008,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020275,GARD:0010989,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020275,GARD:0017716,Rare genetic disease +GARD:0012597,GARD:0022521,GARD:0012596,GARD:0013388,Rare endocrine disease +GARD:0012597,GARD:0022521,GARD:0012596,GARD:0000330,Rare endocrine disease +GARD:0012597,GARD:0022521,GARD:0012596,GARD:0007633,Rare endocrine disease +GARD:0012597,GARD:0022531,GARD:0020275,GARD:0011962,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020275,GARD:0013824,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020275,GARD:0012604,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020275,GARD:0007633,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020275,GARD:0011893,Rare genetic disease +GARD:0012597,GARD:0022510,GARD:0012596,GARD:0016646,Rare skin disease +GARD:0012597,GARD:0022521,GARD:0012596,GARD:0017716,Rare endocrine disease +GARD:0012597,GARD:0022521,GARD:0012596,GARD:0011893,Rare endocrine disease +GARD:0012597,GARD:0022510,GARD:0012596,GARD:0011962,Rare skin disease +GARD:0012597,GARD:0022521,GARD:0012596,GARD:0011962,Rare endocrine disease +GARD:0012597,GARD:0022531,GARD:0020011,GARD:0011962,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020011,GARD:0017552,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020275,GARD:0016646,Rare genetic disease +GARD:0012597,GARD:0022521,GARD:0012596,GARD:0017552,Rare endocrine disease +GARD:0012597,GARD:0022531,GARD:0020011,GARD:0000330,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020275,GARD:0013388,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020011,GARD:0011893,Rare genetic disease +GARD:0012597,GARD:0022521,GARD:0012596,GARD:0012604,Rare endocrine disease +GARD:0012597,GARD:0022531,GARD:0020275,GARD:0000330,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020011,GARD:0010989,Rare genetic disease +GARD:0012597,GARD:0022521,GARD:0012596,GARD:0016646,Rare endocrine disease +GARD:0012597,GARD:0022510,GARD:0012596,GARD:0017716,Rare skin disease +GARD:0012597,GARD:0022531,GARD:0020011,GARD:0007633,Rare genetic disease +GARD:0012597,GARD:0022510,GARD:0012596,GARD:0013388,Rare skin disease +GARD:0012597,GARD:0022510,GARD:0012596,GARD:0011008,Rare skin disease +GARD:0012597,GARD:0022510,GARD:0012596,GARD:0017552,Rare skin disease +GARD:0012597,GARD:0022531,GARD:0020011,GARD:0013388,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020011,GARD:0016646,Rare genetic disease +GARD:0012597,GARD:0022521,GARD:0012596,GARD:0011008,Rare endocrine disease +GARD:0012597,GARD:0022510,GARD:0012596,GARD:0010989,Rare skin disease +GARD:0012597,GARD:0022531,GARD:0020011,GARD:0012604,Rare genetic disease +GARD:0012597,GARD:0022510,GARD:0012596,GARD:0013824,Rare skin disease +GARD:0012597,GARD:0022531,GARD:0020011,GARD:0013824,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020275,GARD:0017552,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020011,GARD:0017716,Rare genetic disease +GARD:0012597,GARD:0022531,GARD:0020275,GARD:0011008,Rare genetic disease +GARD:0012597,GARD:0022510,GARD:0012596,GARD:0000330,Rare skin disease +GARD:0012597,GARD:0022510,GARD:0012596,GARD:0011893,Rare skin disease +GARD:0012597,GARD:0022521,GARD:0012596,GARD:0013824,Rare endocrine disease +GARD:0012598,GARD:0022521,GARD:0011962,,Rare endocrine disease +GARD:0012598,GARD:0022531,GARD:0021242,,Rare genetic disease +GARD:0012598,GARD:0022510,GARD:0011962,,Rare skin disease +GARD:0012598,GARD:0022531,GARD:0011962,,Rare genetic disease +GARD:0012599,GARD:0022531,GARD:0011962,,Rare genetic disease +GARD:0012599,GARD:0022510,GARD:0011962,,Rare skin disease +GARD:0012599,GARD:0022521,GARD:0011962,,Rare endocrine disease +GARD:0012600,GARD:0022521,GARD:0011962,,Rare endocrine disease +GARD:0012600,GARD:0022531,GARD:0011962,,Rare genetic disease +GARD:0012600,GARD:0022510,GARD:0011962,,Rare skin disease +GARD:0012601,GARD:0022510,GARD:0011962,,Rare skin disease +GARD:0012601,GARD:0022531,GARD:0020214,,Rare genetic disease +GARD:0012601,GARD:0022521,GARD:0020214,,Rare endocrine disease +GARD:0012601,GARD:0022531,GARD:0011962,,Rare genetic disease +GARD:0012601,GARD:0022521,GARD:0011962,,Rare endocrine disease +GARD:0012602,GARD:0022521,GARD:0012596,GARD:0012603,Rare endocrine disease +GARD:0012602,GARD:0022521,GARD:0012596,GARD:0010509,Rare endocrine disease +GARD:0012602,GARD:0022510,GARD:0012596,GARD:0005867,Rare skin disease +GARD:0012602,GARD:0022510,GARD:0012596,GARD:0012603,Rare skin disease +GARD:0012602,GARD:0022521,GARD:0012596,GARD:0005867,Rare endocrine disease +GARD:0012602,GARD:0022510,GARD:0012596,GARD:0010509,Rare skin disease +GARD:0012603,GARD:0022521,GARD:0012602,,Rare endocrine disease +GARD:0012603,GARD:0022510,GARD:0012602,,Rare skin disease +GARD:0012603,GARD:0022521,GARD:0020214,,Rare endocrine disease +GARD:0012604,GARD:0022521,GARD:0012597,,Rare endocrine disease +GARD:0012604,GARD:0022510,GARD:0012597,,Rare skin disease +GARD:0012604,GARD:0022531,GARD:0012597,,Rare genetic disease +GARD:0012610,GARD:0022531,GARD:0022214,,Rare genetic disease +GARD:0012610,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0012610,GARD:0022513,GARD:0022214,,Rare developmental defect during embryogenesis +GARD:0012610,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0012610,GARD:0022531,GARD:0022094,,Rare genetic disease +GARD:0012610,GARD:0022520,GARD:0022094,,Rare ophthalmic disorder +GARD:0012610,GARD:0022525,GARD:0022214,,Rare systemic or rheumatologic disease +GARD:0012610,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0012610,GARD:0022510,GARD:0022214,,Rare skin disease +GARD:0012613,GARD:0022510,GARD:0006322,,Rare skin disease +GARD:0012613,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0012613,GARD:0022525,GARD:0006322,,Rare systemic or rheumatologic disease +GARD:0012613,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0012613,GARD:0022513,GARD:0006322,,Rare developmental defect during embryogenesis +GARD:0012613,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0012613,GARD:0022531,GARD:0006322,,Rare genetic disease +GARD:0012621,GARD:0022508,GARD:0003579,,Rare inborn errors of metabolism +GARD:0012621,GARD:0022531,GARD:0003579,,Rare genetic disease +GARD:0012621,GARD:0022522,GARD:0003579,,Rare hematologic disease +GARD:0012623,GARD:0022531,GARD:0019229,GARD:0009479,Rare genetic disease +GARD:0012623,GARD:0022531,GARD:0018951,GARD:0005500,Rare genetic disease +GARD:0012623,GARD:0022531,GARD:0018951,GARD:0009479,Rare genetic disease +GARD:0012623,GARD:0022531,GARD:0018951,GARD:0017391,Rare genetic disease +GARD:0012623,GARD:0022512,GARD:0019229,GARD:0005500,Rare renal disease +GARD:0012623,GARD:0022508,GARD:0013163,GARD:0005500,Rare inborn errors of metabolism +GARD:0012623,GARD:0022531,GARD:0013163,GARD:0017391,Rare genetic disease +GARD:0012623,GARD:0022512,GARD:0019229,GARD:0009479,Rare renal disease +GARD:0012623,GARD:0022508,GARD:0018951,GARD:0009479,Rare inborn errors of metabolism +GARD:0012623,GARD:0022512,GARD:0019229,GARD:0017391,Rare renal disease +GARD:0012623,GARD:0022531,GARD:0013163,GARD:0005500,Rare genetic disease +GARD:0012623,GARD:0022531,GARD:0019229,GARD:0017391,Rare genetic disease +GARD:0012623,GARD:0022536,GARD:0022061,GARD:0017391,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012623,GARD:0022531,GARD:0013163,GARD:0009479,Rare genetic disease +GARD:0012623,GARD:0022536,GARD:0022061,GARD:0005500,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012623,GARD:0022508,GARD:0018951,GARD:0005500,Rare inborn errors of metabolism +GARD:0012623,GARD:0022508,GARD:0013163,GARD:0009479,Rare inborn errors of metabolism +GARD:0012623,GARD:0022531,GARD:0019229,GARD:0005500,Rare genetic disease +GARD:0012623,GARD:0022508,GARD:0013163,GARD:0017391,Rare inborn errors of metabolism +GARD:0012623,GARD:0022536,GARD:0022061,GARD:0009479,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012623,GARD:0022508,GARD:0018951,GARD:0017391,Rare inborn errors of metabolism +GARD:0012631,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0012631,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0012631,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0012632,GARD:0022531,GARD:0018890,GARD:0017662,Rare genetic disease +GARD:0012632,GARD:0022531,GARD:0021322,GARD:0017809,Rare genetic disease +GARD:0012632,GARD:0022531,GARD:0018890,GARD:0017555,Rare genetic disease +GARD:0012632,GARD:0022508,GARD:0012679,GARD:0022305,Rare inborn errors of metabolism +GARD:0012632,GARD:0022531,GARD:0021322,GARD:0017555,Rare genetic disease +GARD:0012632,GARD:0022508,GARD:0012679,GARD:0018004,Rare inborn errors of metabolism +GARD:0012632,GARD:0022531,GARD:0021322,GARD:0017662,Rare genetic disease +GARD:0012632,GARD:0022508,GARD:0021322,GARD:0022305,Rare inborn errors of metabolism +GARD:0012632,GARD:0022531,GARD:0012679,GARD:0017661,Rare genetic disease +GARD:0012632,GARD:0022531,GARD:0018890,GARD:0017661,Rare genetic disease +GARD:0012632,GARD:0022508,GARD:0021322,GARD:0017662,Rare inborn errors of metabolism +GARD:0012632,GARD:0022508,GARD:0012679,GARD:0017662,Rare inborn errors of metabolism +GARD:0012632,GARD:0022524,GARD:0018890,GARD:0017662,Rare neurologic disease +GARD:0012632,GARD:0022531,GARD:0012679,GARD:0017809,Rare genetic disease +GARD:0012632,GARD:0022508,GARD:0012679,GARD:0017809,Rare inborn errors of metabolism +GARD:0012632,GARD:0022531,GARD:0021322,GARD:0018004,Rare genetic disease +GARD:0012632,GARD:0022508,GARD:0021322,GARD:0017809,Rare inborn errors of metabolism +GARD:0012632,GARD:0022508,GARD:0012679,GARD:0017661,Rare inborn errors of metabolism +GARD:0012632,GARD:0022524,GARD:0018890,GARD:0018004,Rare neurologic disease +GARD:0012632,GARD:0022508,GARD:0021322,GARD:0017555,Rare inborn errors of metabolism +GARD:0012632,GARD:0022531,GARD:0012679,GARD:0017662,Rare genetic disease +GARD:0012632,GARD:0022531,GARD:0018890,GARD:0022305,Rare genetic disease +GARD:0012632,GARD:0022524,GARD:0018890,GARD:0022305,Rare neurologic disease +GARD:0012632,GARD:0022531,GARD:0018890,GARD:0017809,Rare genetic disease +GARD:0012632,GARD:0022531,GARD:0018890,GARD:0018004,Rare genetic disease +GARD:0012632,GARD:0022531,GARD:0012679,GARD:0022305,Rare genetic disease +GARD:0012632,GARD:0022531,GARD:0012679,GARD:0017555,Rare genetic disease +GARD:0012632,GARD:0022524,GARD:0018890,GARD:0017809,Rare neurologic disease +GARD:0012632,GARD:0022524,GARD:0018890,GARD:0017555,Rare neurologic disease +GARD:0012632,GARD:0022531,GARD:0012679,GARD:0018004,Rare genetic disease +GARD:0012632,GARD:0022524,GARD:0018890,GARD:0017661,Rare neurologic disease +GARD:0012632,GARD:0022508,GARD:0012679,GARD:0017555,Rare inborn errors of metabolism +GARD:0012632,GARD:0022531,GARD:0021322,GARD:0022305,Rare genetic disease +GARD:0012632,GARD:0022508,GARD:0021322,GARD:0017661,Rare inborn errors of metabolism +GARD:0012632,GARD:0022531,GARD:0021322,GARD:0017661,Rare genetic disease +GARD:0012632,GARD:0022508,GARD:0021322,GARD:0018004,Rare inborn errors of metabolism +GARD:0012635,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0012635,GARD:0022531,GARD:0019993,,Rare genetic disease +GARD:0012635,GARD:0022531,GARD:0020219,,Rare genetic disease +GARD:0012635,GARD:0022529,GARD:0020219,,Rare infertility +GARD:0012635,GARD:0022514,GARD:0020219,,Rare gynecologic or obstetric disease +GARD:0012635,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012635,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012635,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0012635,GARD:0022521,GARD:0020219,,Rare endocrine disease +GARD:0012635,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012638,GARD:0022523,GARD:0020322,,Rare immune disease +GARD:0012638,GARD:0022531,GARD:0020322,,Rare genetic disease +GARD:0012640,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0012640,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0012640,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0012640,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0012640,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0012640,GARD:0022513,GARD:0002392,,Rare developmental defect during embryogenesis +GARD:0012640,GARD:0022531,GARD:0002392,,Rare genetic disease +GARD:0012640,GARD:0022511,GARD:0002392,,Rare bone disease +GARD:0012640,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0012641,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0012641,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0012641,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012641,GARD:0022513,GARD:0002392,,Rare developmental defect during embryogenesis +GARD:0012641,GARD:0022531,GARD:0021987,,Rare genetic disease +GARD:0012641,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012641,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0012641,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012641,GARD:0022531,GARD:0002392,,Rare genetic disease +GARD:0012641,GARD:0022511,GARD:0002392,,Rare bone disease +GARD:0012642,GARD:0022513,GARD:0002392,,Rare developmental defect during embryogenesis +GARD:0012642,GARD:0022531,GARD:0021740,,Rare genetic disease +GARD:0012642,GARD:0022511,GARD:0002392,,Rare bone disease +GARD:0012642,GARD:0022531,GARD:0002392,,Rare genetic disease +GARD:0012642,GARD:0022507,GARD:0019965,,Rare maxillo-facial surgical disease +GARD:0012642,GARD:0022513,GARD:0019965,,Rare developmental defect during embryogenesis +GARD:0012643,GARD:0022531,GARD:0019870,GARD:0003227,Rare genetic disease +GARD:0012643,GARD:0022531,GARD:0019870,GARD:0009177,Rare genetic disease +GARD:0012643,GARD:0022513,GARD:0019870,GARD:0003227,Rare developmental defect during embryogenesis +GARD:0012643,GARD:0022531,GARD:0019870,GARD:0012644,Rare genetic disease +GARD:0012643,GARD:0022513,GARD:0019870,GARD:0009177,Rare developmental defect during embryogenesis +GARD:0012643,GARD:0022513,GARD:0019870,GARD:0012644,Rare developmental defect during embryogenesis +GARD:0012644,GARD:0022513,GARD:0019833,GARD:0012645,Rare developmental defect during embryogenesis +GARD:0012644,GARD:0022531,GARD:0021507,GARD:0012645,Rare genetic disease +GARD:0012644,GARD:0022531,GARD:0012643,GARD:0012645,Rare genetic disease +GARD:0012644,GARD:0022513,GARD:0012643,GARD:0012645,Rare developmental defect during embryogenesis +GARD:0012645,GARD:0022531,GARD:0012644,,Rare genetic disease +GARD:0012645,GARD:0022513,GARD:0012644,,Rare developmental defect during embryogenesis +GARD:0012648,GARD:0022513,GARD:0019523,,Rare developmental defect during embryogenesis +GARD:0012648,GARD:0022520,GARD:0019523,,Rare ophthalmic disorder +GARD:0012648,GARD:0022531,GARD:0019523,,Rare genetic disease +GARD:0012650,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0012652,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0012652,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012652,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0012652,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012652,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0012652,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0012653,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0012653,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0012653,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012656,GARD:0022522,GARD:0020131,GARD:0022309,Rare hematologic disease +GARD:0012656,GARD:0022535,GARD:0020131,GARD:0022309,Rare neoplastic disease +GARD:0012656,GARD:0022536,GARD:0020131,GARD:0022309,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012656,GARD:0022536,GARD:0020131,GARD:0006005,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012656,GARD:0022536,GARD:0020131,GARD:0022310,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012656,GARD:0022535,GARD:0020131,GARD:0006005,Rare neoplastic disease +GARD:0012656,GARD:0022522,GARD:0020131,GARD:0022310,Rare hematologic disease +GARD:0012656,GARD:0022522,GARD:0020131,GARD:0006005,Rare hematologic disease +GARD:0012656,GARD:0022535,GARD:0020131,GARD:0022310,Rare neoplastic disease +GARD:0012662,GARD:0022513,GARD:0020464,GARD:0019960,Rare developmental defect during embryogenesis +GARD:0012662,GARD:0022524,GARD:0019819,GARD:0019959,Rare neurologic disease +GARD:0012662,GARD:0022524,GARD:0019819,GARD:0007900,Rare neurologic disease +GARD:0012662,GARD:0022513,GARD:0020464,GARD:0007900,Rare developmental defect during embryogenesis +GARD:0012662,GARD:0022527,GARD:0020464,GARD:0019959,Rare circulatory system disease +GARD:0012662,GARD:0022513,GARD:0020464,GARD:0019959,Rare developmental defect during embryogenesis +GARD:0012662,GARD:0022527,GARD:0020464,GARD:0007900,Rare circulatory system disease +GARD:0012662,GARD:0022527,GARD:0020464,GARD:0019960,Rare circulatory system disease +GARD:0012662,GARD:0022524,GARD:0019819,GARD:0019960,Rare neurologic disease +GARD:0012663,GARD:0022513,GARD:0020464,GARD:0019956,Rare developmental defect during embryogenesis +GARD:0012663,GARD:0022527,GARD:0020464,GARD:0019957,Rare circulatory system disease +GARD:0012663,GARD:0022513,GARD:0020464,GARD:0019955,Rare developmental defect during embryogenesis +GARD:0012663,GARD:0022527,GARD:0020464,GARD:0019955,Rare circulatory system disease +GARD:0012663,GARD:0022513,GARD:0020464,GARD:0019957,Rare developmental defect during embryogenesis +GARD:0012663,GARD:0022527,GARD:0020464,GARD:0019956,Rare circulatory system disease +GARD:0012664,GARD:0022514,GARD:0019150,,Rare gynecologic or obstetric disease +GARD:0012664,GARD:0022531,GARD:0019148,,Rare genetic disease +GARD:0012664,GARD:0022531,GARD:0001467,,Rare genetic disease +GARD:0012664,GARD:0022532,GARD:0019150,,Rare urogenital disease +GARD:0012664,GARD:0022513,GARD:0019148,,Rare developmental defect during embryogenesis +GARD:0012664,GARD:0022513,GARD:0019150,,Rare developmental defect during embryogenesis +GARD:0012664,GARD:0022514,GARD:0019148,,Rare gynecologic or obstetric disease +GARD:0012664,GARD:0022536,GARD:0019150,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012664,GARD:0022521,GARD:0019148,,Rare endocrine disease +GARD:0012664,GARD:0022521,GARD:0019150,,Rare endocrine disease +GARD:0012664,GARD:0022532,GARD:0019148,,Rare urogenital disease +GARD:0012664,GARD:0022521,GARD:0001467,,Rare endocrine disease +GARD:0012664,GARD:0022531,GARD:0019150,,Rare genetic disease +GARD:0012665,GARD:0022529,GARD:0021681,GARD:0021399,Rare infertility +GARD:0012665,GARD:0022531,GARD:0021687,GARD:0021398,Rare genetic disease +GARD:0012665,GARD:0022531,GARD:0001467,GARD:0021398,Rare genetic disease +GARD:0012665,GARD:0022532,GARD:0019148,GARD:0021398,Rare urogenital disease +GARD:0012665,GARD:0022529,GARD:0021681,GARD:0021398,Rare infertility +GARD:0012665,GARD:0022513,GARD:0019148,GARD:0021399,Rare developmental defect during embryogenesis +GARD:0012665,GARD:0022531,GARD:0019148,GARD:0021398,Rare genetic disease +GARD:0012665,GARD:0022514,GARD:0019148,GARD:0021398,Rare gynecologic or obstetric disease +GARD:0012665,GARD:0022531,GARD:0021692,GARD:0021398,Rare genetic disease +GARD:0012665,GARD:0022531,GARD:0001467,GARD:0021399,Rare genetic disease +GARD:0012665,GARD:0022514,GARD:0019148,GARD:0021399,Rare gynecologic or obstetric disease +GARD:0012665,GARD:0022531,GARD:0021692,GARD:0021399,Rare genetic disease +GARD:0012665,GARD:0022521,GARD:0019148,GARD:0021398,Rare endocrine disease +GARD:0012665,GARD:0022529,GARD:0021671,GARD:0021399,Rare infertility +GARD:0012665,GARD:0022521,GARD:0001467,GARD:0021398,Rare endocrine disease +GARD:0012665,GARD:0022513,GARD:0019148,GARD:0021398,Rare developmental defect during embryogenesis +GARD:0012665,GARD:0022532,GARD:0019148,GARD:0021399,Rare urogenital disease +GARD:0012665,GARD:0022531,GARD:0019148,GARD:0021399,Rare genetic disease +GARD:0012665,GARD:0022529,GARD:0021671,GARD:0021398,Rare infertility +GARD:0012665,GARD:0022531,GARD:0021687,GARD:0021399,Rare genetic disease +GARD:0012665,GARD:0022521,GARD:0001467,GARD:0021399,Rare endocrine disease +GARD:0012665,GARD:0022521,GARD:0019148,GARD:0021399,Rare endocrine disease +GARD:0012669,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012669,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012669,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0012669,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012669,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0012669,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0012669,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0012669,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0012673,GARD:0022510,GARD:0020744,,Rare skin disease +GARD:0012674,GARD:0022510,GARD:0020744,,Rare skin disease +GARD:0012675,GARD:0022510,GARD:0020744,,Rare skin disease +GARD:0012676,GARD:0022510,GARD:0020744,,Rare skin disease +GARD:0012677,GARD:0022510,GARD:0020744,,Rare skin disease +GARD:0012678,GARD:0022508,GARD:0012679,,Rare inborn errors of metabolism +GARD:0012678,GARD:0022531,GARD:0020555,,Rare genetic disease +GARD:0012678,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0012678,GARD:0022531,GARD:0012679,,Rare genetic disease +GARD:0012678,GARD:0022524,GARD:0020555,,Rare neurologic disease +GARD:0012678,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0012679,GARD:0022531,GARD:0018887,GARD:0013488,Rare genetic disease +GARD:0012679,GARD:0022531,GARD:0018887,GARD:0003263,Rare genetic disease +GARD:0012679,GARD:0022531,GARD:0018887,GARD:0012678,Rare genetic disease +GARD:0012679,GARD:0022508,GARD:0018887,GARD:0003263,Rare inborn errors of metabolism +GARD:0012679,GARD:0022531,GARD:0018887,GARD:0012680,Rare genetic disease +GARD:0012679,GARD:0022508,GARD:0018887,GARD:0012678,Rare inborn errors of metabolism +GARD:0012679,GARD:0022531,GARD:0018887,GARD:0012681,Rare genetic disease +GARD:0012679,GARD:0022508,GARD:0018887,GARD:0012681,Rare inborn errors of metabolism +GARD:0012679,GARD:0022508,GARD:0018887,GARD:0012632,Rare inborn errors of metabolism +GARD:0012679,GARD:0022508,GARD:0018887,GARD:0012680,Rare inborn errors of metabolism +GARD:0012679,GARD:0022531,GARD:0018887,GARD:0012632,Rare genetic disease +GARD:0012679,GARD:0022508,GARD:0018887,GARD:0013488,Rare inborn errors of metabolism +GARD:0012680,GARD:0022508,GARD:0012679,,Rare inborn errors of metabolism +GARD:0012680,GARD:0022531,GARD:0012679,,Rare genetic disease +GARD:0012681,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0012681,GARD:0022531,GARD:0021401,,Rare genetic disease +GARD:0012681,GARD:0022531,GARD:0012679,,Rare genetic disease +GARD:0012681,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0012681,GARD:0022508,GARD:0012679,,Rare inborn errors of metabolism +GARD:0012681,GARD:0022524,GARD:0021401,,Rare neurologic disease +GARD:0012682,GARD:0022513,GARD:0021001,GARD:0016234,Rare developmental defect during embryogenesis +GARD:0012682,GARD:0022524,GARD:0021001,GARD:0016234,Rare neurologic disease +GARD:0012682,GARD:0022531,GARD:0021007,GARD:0016234,Rare genetic disease +GARD:0012682,GARD:0022520,GARD:0019542,GARD:0016234,Rare ophthalmic disorder +GARD:0012682,GARD:0022531,GARD:0022157,GARD:0016234,Rare genetic disease +GARD:0012683,GARD:0022524,GARD:0010711,GARD:0019927,Rare neurologic disease +GARD:0012683,GARD:0022531,GARD:0019478,GARD:0019926,Rare genetic disease +GARD:0012683,GARD:0022524,GARD:0010711,GARD:0021724,Rare neurologic disease +GARD:0012683,GARD:0022524,GARD:0010711,GARD:0019926,Rare neurologic disease +GARD:0012683,GARD:0022524,GARD:0019478,GARD:0019927,Rare neurologic disease +GARD:0012683,GARD:0022531,GARD:0010711,GARD:0021724,Rare genetic disease +GARD:0012683,GARD:0022531,GARD:0019478,GARD:0021724,Rare genetic disease +GARD:0012683,GARD:0022524,GARD:0019478,GARD:0021724,Rare neurologic disease +GARD:0012683,GARD:0022531,GARD:0010711,GARD:0019927,Rare genetic disease +GARD:0012683,GARD:0022531,GARD:0019478,GARD:0019927,Rare genetic disease +GARD:0012683,GARD:0022531,GARD:0010711,GARD:0019926,Rare genetic disease +GARD:0012683,GARD:0022524,GARD:0019478,GARD:0019926,Rare neurologic disease +GARD:0012684,GARD:0022531,GARD:0010711,GARD:0017619,Rare genetic disease +GARD:0012684,GARD:0022531,GARD:0010711,GARD:0017618,Rare genetic disease +GARD:0012684,GARD:0022524,GARD:0010711,GARD:0017619,Rare neurologic disease +GARD:0012684,GARD:0022524,GARD:0010711,GARD:0017618,Rare neurologic disease +GARD:0012686,GARD:0022510,GARD:0007842,GARD:0021089,Rare skin disease +GARD:0012686,GARD:0022535,GARD:0007842,GARD:0021088,Rare neoplastic disease +GARD:0012686,GARD:0022535,GARD:0007842,GARD:0021089,Rare neoplastic disease +GARD:0012686,GARD:0022522,GARD:0007842,GARD:0021088,Rare hematologic disease +GARD:0012686,GARD:0022522,GARD:0007842,GARD:0021089,Rare hematologic disease +GARD:0012686,GARD:0022510,GARD:0007842,GARD:0021088,Rare skin disease +GARD:0012687,GARD:0022510,GARD:0007842,,Rare skin disease +GARD:0012687,GARD:0022522,GARD:0007842,,Rare hematologic disease +GARD:0012687,GARD:0022535,GARD:0007842,,Rare neoplastic disease +GARD:0012688,GARD:0022524,GARD:0010711,GARD:0020514,Rare neurologic disease +GARD:0012688,GARD:0022531,GARD:0010711,GARD:0020514,Rare genetic disease +GARD:0012688,GARD:0022524,GARD:0010711,GARD:0019928,Rare neurologic disease +GARD:0012688,GARD:0022531,GARD:0010711,GARD:0012731,Rare genetic disease +GARD:0012688,GARD:0022524,GARD:0010711,GARD:0012731,Rare neurologic disease +GARD:0012688,GARD:0022531,GARD:0010711,GARD:0019928,Rare genetic disease +GARD:0012688,GARD:0022524,GARD:0010711,GARD:0019929,Rare neurologic disease +GARD:0012688,GARD:0022531,GARD:0010711,GARD:0019929,Rare genetic disease +GARD:0012697,GARD:0022535,GARD:0019406,GARD:0012698,Rare neoplastic disease +GARD:0012697,GARD:0022535,GARD:0019406,GARD:0004107,Rare neoplastic disease +GARD:0012697,GARD:0022524,GARD:0019406,GARD:0004107,Rare neurologic disease +GARD:0012697,GARD:0022524,GARD:0019406,GARD:0010872,Rare neurologic disease +GARD:0012697,GARD:0022524,GARD:0019406,GARD:0007180,Rare neurologic disease +GARD:0012697,GARD:0022524,GARD:0019406,GARD:0012698,Rare neurologic disease +GARD:0012697,GARD:0022535,GARD:0019406,GARD:0007180,Rare neoplastic disease +GARD:0012697,GARD:0022535,GARD:0019406,GARD:0010872,Rare neoplastic disease +GARD:0012698,GARD:0022524,GARD:0012697,GARD:0010921,Rare neurologic disease +GARD:0012698,GARD:0022535,GARD:0012697,GARD:0010921,Rare neoplastic disease +GARD:0012698,GARD:0022524,GARD:0012697,GARD:0019730,Rare neurologic disease +GARD:0012698,GARD:0022535,GARD:0012697,GARD:0019730,Rare neoplastic disease +GARD:0012703,GARD:0022525,GARD:0021657,,Rare systemic or rheumatologic disease +GARD:0012703,GARD:0022511,GARD:0021657,,Rare bone disease +GARD:0012704,GARD:0022525,GARD:0021657,GARD:0010910,Rare systemic or rheumatologic disease +GARD:0012704,GARD:0022511,GARD:0021657,GARD:0019365,Rare bone disease +GARD:0012704,GARD:0022511,GARD:0021657,GARD:0010910,Rare bone disease +GARD:0012704,GARD:0022511,GARD:0021657,GARD:0019366,Rare bone disease +GARD:0012704,GARD:0022525,GARD:0021657,GARD:0006874,Rare systemic or rheumatologic disease +GARD:0012704,GARD:0022511,GARD:0021657,GARD:0006874,Rare bone disease +GARD:0012704,GARD:0022511,GARD:0021657,GARD:0002380,Rare bone disease +GARD:0012704,GARD:0022525,GARD:0021657,GARD:0007610,Rare systemic or rheumatologic disease +GARD:0012704,GARD:0022511,GARD:0021657,GARD:0007610,Rare bone disease +GARD:0012704,GARD:0022511,GARD:0021657,GARD:0006842,Rare bone disease +GARD:0012704,GARD:0022525,GARD:0021657,GARD:0004131,Rare systemic or rheumatologic disease +GARD:0012704,GARD:0022525,GARD:0021657,GARD:0009690,Rare systemic or rheumatologic disease +GARD:0012704,GARD:0022511,GARD:0021657,GARD:0019364,Rare bone disease +GARD:0012704,GARD:0022525,GARD:0021657,GARD:0019365,Rare systemic or rheumatologic disease +GARD:0012704,GARD:0022525,GARD:0021657,GARD:0002380,Rare systemic or rheumatologic disease +GARD:0012704,GARD:0022511,GARD:0021657,GARD:0004131,Rare bone disease +GARD:0012704,GARD:0022525,GARD:0021657,GARD:0019366,Rare systemic or rheumatologic disease +GARD:0012704,GARD:0022525,GARD:0021657,GARD:0006842,Rare systemic or rheumatologic disease +GARD:0012704,GARD:0022525,GARD:0021657,GARD:0019364,Rare systemic or rheumatologic disease +GARD:0012704,GARD:0022511,GARD:0021657,GARD:0009690,Rare bone disease +GARD:0012706,GARD:0022524,GARD:0019817,,Rare neurologic disease +GARD:0012713,GARD:0022513,GARD:0020001,,Rare developmental defect during embryogenesis +GARD:0012713,GARD:0022528,GARD:0020001,,Rare otorhinolaryngologic disease +GARD:0012713,GARD:0022524,GARD:0020243,,Rare neurologic disease +GARD:0012715,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012715,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012716,GARD:0022510,GARD:0020577,,Rare skin disease +GARD:0012718,GARD:0022531,GARD:0020430,GARD:0016035,Rare genetic disease +GARD:0012718,GARD:0022524,GARD:0000101,GARD:0015208,Rare neurologic disease +GARD:0012718,GARD:0022524,GARD:0019567,GARD:0015208,Rare neurologic disease +GARD:0012718,GARD:0022531,GARD:0000101,GARD:0016035,Rare genetic disease +GARD:0012718,GARD:0022531,GARD:0019567,GARD:0016035,Rare genetic disease +GARD:0012718,GARD:0022524,GARD:0000101,GARD:0016035,Rare neurologic disease +GARD:0012718,GARD:0022524,GARD:0019567,GARD:0016035,Rare neurologic disease +GARD:0012718,GARD:0022531,GARD:0020430,GARD:0015208,Rare genetic disease +GARD:0012718,GARD:0022531,GARD:0000101,GARD:0015208,Rare genetic disease +GARD:0012718,GARD:0022531,GARD:0019567,GARD:0015208,Rare genetic disease +GARD:0012719,GARD:0022531,GARD:0000101,,Rare genetic disease +GARD:0012719,GARD:0022524,GARD:0000101,,Rare neurologic disease +GARD:0012720,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0012720,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0012722,GARD:0022524,GARD:0021280,,Rare neurologic disease +GARD:0012722,GARD:0022531,GARD:0021280,,Rare genetic disease +GARD:0012724,GARD:0022524,GARD:0016586,GARD:0007371,Rare neurologic disease +GARD:0012724,GARD:0022524,GARD:0016586,GARD:0015424,Rare neurologic disease +GARD:0012724,GARD:0022513,GARD:0016586,GARD:0015424,Rare developmental defect during embryogenesis +GARD:0012724,GARD:0022531,GARD:0016586,GARD:0015589,Rare genetic disease +GARD:0012724,GARD:0022524,GARD:0016586,GARD:0015425,Rare neurologic disease +GARD:0012724,GARD:0022513,GARD:0016586,GARD:0016303,Rare developmental defect during embryogenesis +GARD:0012724,GARD:0022513,GARD:0016586,GARD:0015589,Rare developmental defect during embryogenesis +GARD:0012724,GARD:0022531,GARD:0016586,GARD:0015983,Rare genetic disease +GARD:0012724,GARD:0022531,GARD:0016586,GARD:0016210,Rare genetic disease +GARD:0012724,GARD:0022513,GARD:0016586,GARD:0015983,Rare developmental defect during embryogenesis +GARD:0012724,GARD:0022531,GARD:0016586,GARD:0015425,Rare genetic disease +GARD:0012724,GARD:0022524,GARD:0016586,GARD:0015589,Rare neurologic disease +GARD:0012724,GARD:0022524,GARD:0016586,GARD:0016394,Rare neurologic disease +GARD:0012724,GARD:0022513,GARD:0016586,GARD:0007371,Rare developmental defect during embryogenesis +GARD:0012724,GARD:0022513,GARD:0016586,GARD:0015425,Rare developmental defect during embryogenesis +GARD:0012724,GARD:0022531,GARD:0016586,GARD:0015424,Rare genetic disease +GARD:0012724,GARD:0022531,GARD:0016586,GARD:0016394,Rare genetic disease +GARD:0012724,GARD:0022513,GARD:0016586,GARD:0016210,Rare developmental defect during embryogenesis +GARD:0012724,GARD:0022513,GARD:0016586,GARD:0016394,Rare developmental defect during embryogenesis +GARD:0012724,GARD:0022531,GARD:0016586,GARD:0007371,Rare genetic disease +GARD:0012724,GARD:0022524,GARD:0016586,GARD:0016303,Rare neurologic disease +GARD:0012724,GARD:0022524,GARD:0016586,GARD:0016210,Rare neurologic disease +GARD:0012724,GARD:0022531,GARD:0016586,GARD:0016303,Rare genetic disease +GARD:0012724,GARD:0022524,GARD:0016586,GARD:0015983,Rare neurologic disease +GARD:0012731,GARD:0022531,GARD:0012688,,Rare genetic disease +GARD:0012731,GARD:0022524,GARD:0012688,,Rare neurologic disease +GARD:0012732,GARD:0022531,GARD:0019928,,Rare genetic disease +GARD:0012732,GARD:0022524,GARD:0019928,,Rare neurologic disease +GARD:0012733,GARD:0022524,GARD:0010711,GARD:0017071,Rare neurologic disease +GARD:0012733,GARD:0022531,GARD:0010711,GARD:0006035,Rare genetic disease +GARD:0012733,GARD:0022524,GARD:0010711,GARD:0021527,Rare neurologic disease +GARD:0012733,GARD:0022531,GARD:0010711,GARD:0020384,Rare genetic disease +GARD:0012733,GARD:0022524,GARD:0010711,GARD:0020382,Rare neurologic disease +GARD:0012733,GARD:0022531,GARD:0010711,GARD:0020383,Rare genetic disease +GARD:0012733,GARD:0022524,GARD:0010711,GARD:0020384,Rare neurologic disease +GARD:0012733,GARD:0022531,GARD:0010711,GARD:0000457,Rare genetic disease +GARD:0012733,GARD:0022531,GARD:0010711,GARD:0021527,Rare genetic disease +GARD:0012733,GARD:0022524,GARD:0010711,GARD:0006035,Rare neurologic disease +GARD:0012733,GARD:0022531,GARD:0010711,GARD:0017071,Rare genetic disease +GARD:0012733,GARD:0022524,GARD:0010711,GARD:0020383,Rare neurologic disease +GARD:0012733,GARD:0022531,GARD:0010711,GARD:0020382,Rare genetic disease +GARD:0012733,GARD:0022524,GARD:0010711,GARD:0000457,Rare neurologic disease +GARD:0012736,GARD:0022536,GARD:0022061,GARD:0022294,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012736,GARD:0022512,GARD:0022512,GARD:0022285,Rare renal disease +GARD:0012736,GARD:0022512,GARD:0022512,GARD:0022294,Rare renal disease +GARD:0012736,GARD:0022536,GARD:0022061,GARD:0022285,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012736,GARD:0022512,GARD:0022512,GARD:0022237,Rare renal disease +GARD:0012736,GARD:0022536,GARD:0022061,GARD:0022237,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012736,GARD:0022536,GARD:0022061,GARD:0011982,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012736,GARD:0022536,GARD:0022061,GARD:0022293,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012736,GARD:0022536,GARD:0022061,GARD:0009180,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012736,GARD:0022512,GARD:0022512,GARD:0022293,Rare renal disease +GARD:0012736,GARD:0022512,GARD:0022512,GARD:0022289,Rare renal disease +GARD:0012736,GARD:0022512,GARD:0022512,GARD:0011982,Rare renal disease +GARD:0012736,GARD:0022512,GARD:0022512,GARD:0009180,Rare renal disease +GARD:0012736,GARD:0022536,GARD:0022061,GARD:0022289,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012740,GARD:0022512,GARD:0012741,,Rare renal disease +GARD:0012740,GARD:0022536,GARD:0012741,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012741,GARD:0022536,GARD:0022291,GARD:0012048,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012741,GARD:0022512,GARD:0022291,GARD:0012740,Rare renal disease +GARD:0012741,GARD:0022512,GARD:0022291,GARD:0012048,Rare renal disease +GARD:0012741,GARD:0022536,GARD:0022291,GARD:0012740,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012742,GARD:0022525,GARD:0021496,,Rare systemic or rheumatologic disease +GARD:0012742,GARD:0022524,GARD:0021496,,Rare neurologic disease +GARD:0012742,GARD:0022536,GARD:0022291,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012742,GARD:0021079,GARD:0021082,,Rare systemic or rheumatological disease of childhood +GARD:0012742,GARD:0022536,GARD:0020927,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012742,GARD:0022512,GARD:0022291,,Rare renal disease +GARD:0012742,GARD:0022517,GARD:0020927,,Rare respiratory disease +GARD:0012744,GARD:0022536,GARD:0019846,GARD:0019853,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012744,GARD:0022531,GARD:0019846,GARD:0019853,Rare genetic disease +GARD:0012744,GARD:0022531,GARD:0019846,GARD:0003928,Rare genetic disease +GARD:0012744,GARD:0022516,GARD:0019846,GARD:0019854,Rare gastroenterologic disease +GARD:0012744,GARD:0022536,GARD:0019846,GARD:0003928,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012744,GARD:0022536,GARD:0019846,GARD:0019854,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012744,GARD:0022516,GARD:0019846,GARD:0003928,Rare gastroenterologic disease +GARD:0012744,GARD:0022531,GARD:0019846,GARD:0019854,Rare genetic disease +GARD:0012744,GARD:0022516,GARD:0019846,GARD:0019853,Rare gastroenterologic disease +GARD:0012749,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0012749,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0012757,GARD:0022522,GARD:0020130,GARD:0012758,Rare hematologic disease +GARD:0012757,GARD:0022536,GARD:0020130,GARD:0012758,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012757,GARD:0022535,GARD:0020130,GARD:0017450,Rare neoplastic disease +GARD:0012757,GARD:0022522,GARD:0020130,GARD:0008638,Rare hematologic disease +GARD:0012757,GARD:0022522,GARD:0020130,GARD:0017450,Rare hematologic disease +GARD:0012757,GARD:0022522,GARD:0020130,GARD:0012761,Rare hematologic disease +GARD:0012757,GARD:0022535,GARD:0020130,GARD:0008638,Rare neoplastic disease +GARD:0012757,GARD:0022536,GARD:0020130,GARD:0012762,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012757,GARD:0022535,GARD:0020130,GARD:0012762,Rare neoplastic disease +GARD:0012757,GARD:0022536,GARD:0020130,GARD:0012761,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012757,GARD:0022536,GARD:0020130,GARD:0017450,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012757,GARD:0022522,GARD:0020130,GARD:0012762,Rare hematologic disease +GARD:0012757,GARD:0022536,GARD:0020130,GARD:0012760,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012757,GARD:0022535,GARD:0020130,GARD:0012758,Rare neoplastic disease +GARD:0012757,GARD:0022522,GARD:0020130,GARD:0012760,Rare hematologic disease +GARD:0012757,GARD:0022535,GARD:0020130,GARD:0012761,Rare neoplastic disease +GARD:0012757,GARD:0022535,GARD:0020130,GARD:0012760,Rare neoplastic disease +GARD:0012757,GARD:0022536,GARD:0020130,GARD:0008638,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012758,GARD:0022522,GARD:0012757,GARD:0012759,Rare hematologic disease +GARD:0012758,GARD:0022535,GARD:0012757,GARD:0021711,Rare neoplastic disease +GARD:0012758,GARD:0022535,GARD:0012757,GARD:0012759,Rare neoplastic disease +GARD:0012758,GARD:0022535,GARD:0012757,GARD:0019837,Rare neoplastic disease +GARD:0012758,GARD:0022536,GARD:0012757,GARD:0021710,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012758,GARD:0022536,GARD:0012757,GARD:0022340,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012758,GARD:0022536,GARD:0012757,GARD:0017451,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012758,GARD:0022522,GARD:0012757,GARD:0021712,Rare hematologic disease +GARD:0012758,GARD:0022536,GARD:0012757,GARD:0021712,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012758,GARD:0022522,GARD:0012757,GARD:0021713,Rare hematologic disease +GARD:0012758,GARD:0022535,GARD:0012757,GARD:0000538,Rare neoplastic disease +GARD:0012758,GARD:0022535,GARD:0012757,GARD:0022340,Rare neoplastic disease +GARD:0012758,GARD:0022536,GARD:0012757,GARD:0021711,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012758,GARD:0022522,GARD:0012757,GARD:0021711,Rare hematologic disease +GARD:0012758,GARD:0022535,GARD:0012757,GARD:0021710,Rare neoplastic disease +GARD:0012758,GARD:0022536,GARD:0012757,GARD:0000536,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012758,GARD:0022535,GARD:0012757,GARD:0000536,Rare neoplastic disease +GARD:0012758,GARD:0022522,GARD:0012757,GARD:0021588,Rare hematologic disease +GARD:0012758,GARD:0022522,GARD:0012757,GARD:0019837,Rare hematologic disease +GARD:0012758,GARD:0022522,GARD:0012757,GARD:0017451,Rare hematologic disease +GARD:0012758,GARD:0022522,GARD:0012757,GARD:0000538,Rare hematologic disease +GARD:0012758,GARD:0022522,GARD:0012757,GARD:0022340,Rare hematologic disease +GARD:0012758,GARD:0022536,GARD:0012757,GARD:0019837,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012758,GARD:0022535,GARD:0012757,GARD:0021712,Rare neoplastic disease +GARD:0012758,GARD:0022536,GARD:0012757,GARD:0019587,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012758,GARD:0022535,GARD:0012757,GARD:0021713,Rare neoplastic disease +GARD:0012758,GARD:0022522,GARD:0012757,GARD:0000536,Rare hematologic disease +GARD:0012758,GARD:0022522,GARD:0012757,GARD:0019587,Rare hematologic disease +GARD:0012758,GARD:0022535,GARD:0012757,GARD:0017451,Rare neoplastic disease +GARD:0012758,GARD:0022536,GARD:0012757,GARD:0000538,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012758,GARD:0022536,GARD:0012757,GARD:0012759,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012758,GARD:0022536,GARD:0012757,GARD:0021588,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012758,GARD:0022535,GARD:0012757,GARD:0019587,Rare neoplastic disease +GARD:0012758,GARD:0022535,GARD:0012757,GARD:0021588,Rare neoplastic disease +GARD:0012758,GARD:0022522,GARD:0012757,GARD:0021710,Rare hematologic disease +GARD:0012758,GARD:0022536,GARD:0012757,GARD:0021713,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012759,GARD:0022536,GARD:0012758,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012759,GARD:0022522,GARD:0012758,,Rare hematologic disease +GARD:0012759,GARD:0022535,GARD:0012758,,Rare neoplastic disease +GARD:0012760,GARD:0022536,GARD:0012757,GARD:0000524,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012760,GARD:0022522,GARD:0012757,GARD:0012763,Rare hematologic disease +GARD:0012760,GARD:0022535,GARD:0012757,GARD:0019071,Rare neoplastic disease +GARD:0012760,GARD:0022535,GARD:0012757,GARD:0000524,Rare neoplastic disease +GARD:0012760,GARD:0022522,GARD:0012757,GARD:0019071,Rare hematologic disease +GARD:0012760,GARD:0022536,GARD:0012757,GARD:0019588,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012760,GARD:0022535,GARD:0012757,GARD:0000525,Rare neoplastic disease +GARD:0012760,GARD:0022535,GARD:0012757,GARD:0011907,Rare neoplastic disease +GARD:0012760,GARD:0022535,GARD:0012757,GARD:0000529,Rare neoplastic disease +GARD:0012760,GARD:0022535,GARD:0012757,GARD:0000527,Rare neoplastic disease +GARD:0012760,GARD:0022522,GARD:0012757,GARD:0011907,Rare hematologic disease +GARD:0012760,GARD:0022522,GARD:0012757,GARD:0000529,Rare hematologic disease +GARD:0012760,GARD:0022522,GARD:0012757,GARD:0000527,Rare hematologic disease +GARD:0012760,GARD:0022535,GARD:0012757,GARD:0000526,Rare neoplastic disease +GARD:0012760,GARD:0022536,GARD:0012757,GARD:0000526,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012760,GARD:0022536,GARD:0012757,GARD:0011907,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012760,GARD:0022522,GARD:0012757,GARD:0000524,Rare hematologic disease +GARD:0012760,GARD:0022522,GARD:0012757,GARD:0009620,Rare hematologic disease +GARD:0012760,GARD:0022536,GARD:0012757,GARD:0019071,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012760,GARD:0022522,GARD:0012757,GARD:0000525,Rare hematologic disease +GARD:0012760,GARD:0022535,GARD:0012757,GARD:0019588,Rare neoplastic disease +GARD:0012760,GARD:0022536,GARD:0012757,GARD:0009620,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012760,GARD:0022522,GARD:0012757,GARD:0000526,Rare hematologic disease +GARD:0012760,GARD:0022536,GARD:0012757,GARD:0000527,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012760,GARD:0022536,GARD:0012757,GARD:0000525,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012760,GARD:0022536,GARD:0012757,GARD:0000529,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012760,GARD:0022535,GARD:0012757,GARD:0012763,Rare neoplastic disease +GARD:0012760,GARD:0022536,GARD:0012757,GARD:0012763,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012760,GARD:0022535,GARD:0012757,GARD:0009620,Rare neoplastic disease +GARD:0012760,GARD:0022522,GARD:0012757,GARD:0019588,Rare hematologic disease +GARD:0012761,GARD:0022522,GARD:0012757,,Rare hematologic disease +GARD:0012761,GARD:0022535,GARD:0012757,,Rare neoplastic disease +GARD:0012761,GARD:0022536,GARD:0012757,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012762,GARD:0022536,GARD:0012757,GARD:0019835,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012762,GARD:0022522,GARD:0012757,GARD:0019835,Rare hematologic disease +GARD:0012762,GARD:0022535,GARD:0012757,GARD:0019835,Rare neoplastic disease +GARD:0012762,GARD:0022536,GARD:0012757,GARD:0019836,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012762,GARD:0022522,GARD:0012757,GARD:0019836,Rare hematologic disease +GARD:0012762,GARD:0022535,GARD:0012757,GARD:0020057,Rare neoplastic disease +GARD:0012762,GARD:0022535,GARD:0012757,GARD:0019836,Rare neoplastic disease +GARD:0012762,GARD:0022536,GARD:0012757,GARD:0020057,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012762,GARD:0022522,GARD:0012757,GARD:0020057,Rare hematologic disease +GARD:0012763,GARD:0022522,GARD:0012760,,Rare hematologic disease +GARD:0012763,GARD:0022536,GARD:0012760,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012763,GARD:0022535,GARD:0012760,,Rare neoplastic disease +GARD:0012765,GARD:0022535,GARD:0009319,,Rare neoplastic disease +GARD:0012765,GARD:0022522,GARD:0009319,,Rare hematologic disease +GARD:0012765,GARD:0022536,GARD:0009319,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012766,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012766,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012766,GARD:0022531,GARD:0012421,,Rare genetic disease +GARD:0012766,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0012766,GARD:0022513,GARD:0012421,,Rare developmental defect during embryogenesis +GARD:0012766,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0012766,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012768,GARD:0022524,GARD:0019387,,Rare neurologic disease +GARD:0012772,GARD:0022514,GARD:0020205,GARD:0012774,Rare gynecologic or obstetric disease +GARD:0012772,GARD:0022535,GARD:0020205,GARD:0015010,Rare neoplastic disease +GARD:0012772,GARD:0022535,GARD:0020205,GARD:0012774,Rare neoplastic disease +GARD:0012772,GARD:0022535,GARD:0020205,GARD:0009514,Rare neoplastic disease +GARD:0012772,GARD:0022535,GARD:0020205,GARD:0007303,Rare neoplastic disease +GARD:0012772,GARD:0022535,GARD:0020205,GARD:0010804,Rare neoplastic disease +GARD:0012772,GARD:0022514,GARD:0020205,GARD:0012773,Rare gynecologic or obstetric disease +GARD:0012772,GARD:0022514,GARD:0020205,GARD:0017142,Rare gynecologic or obstetric disease +GARD:0012772,GARD:0022514,GARD:0020205,GARD:0009514,Rare gynecologic or obstetric disease +GARD:0012772,GARD:0022514,GARD:0020205,GARD:0015010,Rare gynecologic or obstetric disease +GARD:0012772,GARD:0022535,GARD:0020205,GARD:0017142,Rare neoplastic disease +GARD:0012772,GARD:0022514,GARD:0020205,GARD:0007303,Rare gynecologic or obstetric disease +GARD:0012772,GARD:0022535,GARD:0020205,GARD:0012773,Rare neoplastic disease +GARD:0012772,GARD:0022514,GARD:0020205,GARD:0010804,Rare gynecologic or obstetric disease +GARD:0012773,GARD:0022514,GARD:0012772,,Rare gynecologic or obstetric disease +GARD:0012773,GARD:0022535,GARD:0012772,,Rare neoplastic disease +GARD:0012774,GARD:0022514,GARD:0012772,,Rare gynecologic or obstetric disease +GARD:0012774,GARD:0022535,GARD:0012772,,Rare neoplastic disease +GARD:0012775,GARD:0022514,GARD:0020205,GARD:0020206,Rare gynecologic or obstetric disease +GARD:0012775,GARD:0022535,GARD:0020205,GARD:0020206,Rare neoplastic disease +GARD:0012775,GARD:0022514,GARD:0020205,GARD:0009514,Rare gynecologic or obstetric disease +GARD:0012775,GARD:0022535,GARD:0020205,GARD:0009514,Rare neoplastic disease +GARD:0012777,GARD:0022513,GARD:0012782,,Rare developmental defect during embryogenesis +GARD:0012777,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012777,GARD:0022531,GARD:0012782,,Rare genetic disease +GARD:0012777,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012777,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012777,GARD:0022531,GARD:0021342,,Rare genetic disease +GARD:0012777,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0012777,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0012777,GARD:0022508,GARD:0021342,,Rare inborn errors of metabolism +GARD:0012779,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0012779,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0012779,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0012779,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0012779,GARD:0022531,GARD:0022184,,Rare genetic disease +GARD:0012779,GARD:0022531,GARD:0020281,,Rare genetic disease +GARD:0012779,GARD:0022520,GARD:0022104,,Rare ophthalmic disorder +GARD:0012781,GARD:0022513,GARD:0012782,,Rare developmental defect during embryogenesis +GARD:0012781,GARD:0022531,GARD:0021342,,Rare genetic disease +GARD:0012781,GARD:0022508,GARD:0021342,,Rare inborn errors of metabolism +GARD:0012781,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0012781,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0012781,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012781,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012781,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012781,GARD:0022531,GARD:0012782,,Rare genetic disease +GARD:0012782,GARD:0022513,GARD:0019900,GARD:0021612,Rare developmental defect during embryogenesis +GARD:0012782,GARD:0022513,GARD:0019900,GARD:0012781,Rare developmental defect during embryogenesis +GARD:0012782,GARD:0022513,GARD:0019900,GARD:0017604,Rare developmental defect during embryogenesis +GARD:0012782,GARD:0022513,GARD:0019900,GARD:0000156,Rare developmental defect during embryogenesis +GARD:0012782,GARD:0022531,GARD:0019900,GARD:0017604,Rare genetic disease +GARD:0012782,GARD:0022531,GARD:0019900,GARD:0021607,Rare genetic disease +GARD:0012782,GARD:0022531,GARD:0019900,GARD:0021612,Rare genetic disease +GARD:0012782,GARD:0022513,GARD:0019900,GARD:0021599,Rare developmental defect during embryogenesis +GARD:0012782,GARD:0022531,GARD:0019900,GARD:0012781,Rare genetic disease +GARD:0012782,GARD:0022513,GARD:0019900,GARD:0012403,Rare developmental defect during embryogenesis +GARD:0012782,GARD:0022513,GARD:0019900,GARD:0021609,Rare developmental defect during embryogenesis +GARD:0012782,GARD:0022513,GARD:0019900,GARD:0009841,Rare developmental defect during embryogenesis +GARD:0012782,GARD:0022531,GARD:0019900,GARD:0021599,Rare genetic disease +GARD:0012782,GARD:0022531,GARD:0019900,GARD:0002599,Rare genetic disease +GARD:0012782,GARD:0022531,GARD:0019900,GARD:0021609,Rare genetic disease +GARD:0012782,GARD:0022513,GARD:0019900,GARD:0021607,Rare developmental defect during embryogenesis +GARD:0012782,GARD:0022531,GARD:0019900,GARD:0012403,Rare genetic disease +GARD:0012782,GARD:0022513,GARD:0019900,GARD:0012777,Rare developmental defect during embryogenesis +GARD:0012782,GARD:0022513,GARD:0019900,GARD:0002599,Rare developmental defect during embryogenesis +GARD:0012782,GARD:0022513,GARD:0019900,GARD:0006475,Rare developmental defect during embryogenesis +GARD:0012782,GARD:0022531,GARD:0019900,GARD:0000156,Rare genetic disease +GARD:0012782,GARD:0022531,GARD:0019900,GARD:0009841,Rare genetic disease +GARD:0012782,GARD:0022531,GARD:0019900,GARD:0006475,Rare genetic disease +GARD:0012782,GARD:0022531,GARD:0019900,GARD:0012777,Rare genetic disease +GARD:0012784,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0012784,GARD:0022527,GARD:0022014,,Rare circulatory system disease +GARD:0012794,GARD:0022520,GARD:0022090,,Rare ophthalmic disorder +GARD:0012794,GARD:0022510,GARD:0002150,,Rare skin disease +GARD:0012794,GARD:0022531,GARD:0002150,,Rare genetic disease +GARD:0012794,GARD:0022531,GARD:0022175,,Rare genetic disease +GARD:0012794,GARD:0022513,GARD:0002150,,Rare developmental defect during embryogenesis +GARD:0012796,GARD:0022526,GARD:0006258,GARD:0015383,Rare odontologic disease +GARD:0012796,GARD:0022531,GARD:0006258,GARD:0015383,Rare genetic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0016510,Rare neurologic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0016509,Rare neurologic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0016518,Rare genetic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0016517,Rare neurologic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0016513,Rare neurologic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0012799,Rare genetic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0016516,Rare neurologic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0016511,Rare genetic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0016515,Rare neurologic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0016512,Rare neurologic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0016509,Rare genetic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0007190,Rare neurologic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0016511,Rare neurologic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0016514,Rare neurologic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0012799,Rare neurologic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0009465,Rare genetic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0016514,Rare genetic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0016510,Rare genetic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0016518,Rare neurologic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0016512,Rare genetic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0016508,Rare genetic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0009465,Rare neurologic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0016508,Rare neurologic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0016515,Rare genetic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0016516,Rare genetic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0016513,Rare genetic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0007190,Rare genetic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0016517,Rare genetic disease +GARD:0012798,GARD:0022524,GARD:0019484,GARD:0016507,Rare neurologic disease +GARD:0012798,GARD:0022531,GARD:0021039,GARD:0016507,Rare genetic disease +GARD:0012799,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0012799,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0012800,GARD:0022531,GARD:0020276,GARD:0006901,Rare genetic disease +GARD:0012800,GARD:0022535,GARD:0020259,GARD:0006901,Rare neoplastic disease +GARD:0012800,GARD:0022535,GARD:0020259,GARD:0019881,Rare neoplastic disease +GARD:0012800,GARD:0022513,GARD:0019431,GARD:0005887,Rare developmental defect during embryogenesis +GARD:0012800,GARD:0022531,GARD:0020259,GARD:0006901,Rare genetic disease +GARD:0012800,GARD:0022535,GARD:0019014,GARD:0006901,Rare neoplastic disease +GARD:0012800,GARD:0022513,GARD:0019431,GARD:0006901,Rare developmental defect during embryogenesis +GARD:0012800,GARD:0022531,GARD:0020259,GARD:0019881,Rare genetic disease +GARD:0012800,GARD:0022531,GARD:0020259,GARD:0006202,Rare genetic disease +GARD:0012800,GARD:0022531,GARD:0019431,GARD:0019881,Rare genetic disease +GARD:0012800,GARD:0022513,GARD:0019431,GARD:0012801,Rare developmental defect during embryogenesis +GARD:0012800,GARD:0022510,GARD:0019014,GARD:0012801,Rare skin disease +GARD:0012800,GARD:0022535,GARD:0020259,GARD:0012801,Rare neoplastic disease +GARD:0012800,GARD:0022531,GARD:0020276,GARD:0006202,Rare genetic disease +GARD:0012800,GARD:0022531,GARD:0019431,GARD:0012801,Rare genetic disease +GARD:0012800,GARD:0022510,GARD:0019014,GARD:0006202,Rare skin disease +GARD:0012800,GARD:0022510,GARD:0019014,GARD:0005887,Rare skin disease +GARD:0012800,GARD:0022531,GARD:0019431,GARD:0006901,Rare genetic disease +GARD:0012800,GARD:0022531,GARD:0019431,GARD:0005887,Rare genetic disease +GARD:0012800,GARD:0022531,GARD:0020259,GARD:0005887,Rare genetic disease +GARD:0012800,GARD:0022535,GARD:0019014,GARD:0006202,Rare neoplastic disease +GARD:0012800,GARD:0022531,GARD:0020276,GARD:0012801,Rare genetic disease +GARD:0012800,GARD:0022535,GARD:0019014,GARD:0005887,Rare neoplastic disease +GARD:0012800,GARD:0022535,GARD:0020259,GARD:0005887,Rare neoplastic disease +GARD:0012800,GARD:0022535,GARD:0019014,GARD:0019881,Rare neoplastic disease +GARD:0012800,GARD:0022513,GARD:0019431,GARD:0006202,Rare developmental defect during embryogenesis +GARD:0012800,GARD:0022531,GARD:0019431,GARD:0006202,Rare genetic disease +GARD:0012800,GARD:0022531,GARD:0020276,GARD:0005887,Rare genetic disease +GARD:0012800,GARD:0022510,GARD:0019014,GARD:0006901,Rare skin disease +GARD:0012800,GARD:0022531,GARD:0020259,GARD:0012801,Rare genetic disease +GARD:0012800,GARD:0022513,GARD:0019431,GARD:0019881,Rare developmental defect during embryogenesis +GARD:0012800,GARD:0022510,GARD:0019014,GARD:0019881,Rare skin disease +GARD:0012800,GARD:0022535,GARD:0020259,GARD:0006202,Rare neoplastic disease +GARD:0012800,GARD:0022531,GARD:0020276,GARD:0019881,Rare genetic disease +GARD:0012800,GARD:0022535,GARD:0019014,GARD:0012801,Rare neoplastic disease +GARD:0012801,GARD:0022510,GARD:0012800,,Rare skin disease +GARD:0012801,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0012801,GARD:0022535,GARD:0012800,,Rare neoplastic disease +GARD:0012801,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0012801,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0012801,GARD:0022531,GARD:0012800,,Rare genetic disease +GARD:0012801,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0012801,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0012801,GARD:0022513,GARD:0012800,,Rare developmental defect during embryogenesis +GARD:0012801,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0012801,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0012806,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0012806,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0012806,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0012807,GARD:0022508,GARD:0006798,,Rare inborn errors of metabolism +GARD:0012807,GARD:0022511,GARD:0006798,,Rare bone disease +GARD:0012807,GARD:0022531,GARD:0006798,,Rare genetic disease +GARD:0012807,GARD:0022513,GARD:0006798,,Rare developmental defect during embryogenesis +GARD:0012811,GARD:0022532,GARD:0022532,,Rare urogenital disease +GARD:0012811,GARD:0022516,GARD:0019846,,Rare gastroenterologic disease +GARD:0012811,GARD:0022536,GARD:0019846,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012811,GARD:0022527,GARD:0021130,,Rare circulatory system disease +GARD:0012811,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0012811,GARD:0022531,GARD:0019846,,Rare genetic disease +GARD:0012811,GARD:0022518,GARD:0021130,,Rare surgical thoracic disease +GARD:0012811,GARD:0022531,GARD:0021130,,Rare genetic disease +GARD:0012811,GARD:0022531,GARD:0020281,,Rare genetic disease +GARD:0012811,GARD:0022531,GARD:0020008,,Rare genetic disease +GARD:0012814,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0012814,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012814,GARD:0022513,GARD:0020828,,Rare developmental defect during embryogenesis +GARD:0012814,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0012814,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0012814,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012814,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0012814,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0012814,GARD:0022531,GARD:0020828,,Rare genetic disease +GARD:0012814,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0012814,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012814,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0012814,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012814,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0012815,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012815,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012815,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012816,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0012816,GARD:0022513,GARD:0020879,,Rare developmental defect during embryogenesis +GARD:0012816,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0012816,GARD:0022531,GARD:0020879,,Rare genetic disease +GARD:0012819,GARD:0022531,GARD:0018991,GARD:0016059,Rare genetic disease +GARD:0012819,GARD:0022510,GARD:0018990,GARD:0016059,Rare skin disease +GARD:0012820,GARD:0022531,GARD:0018991,,Rare genetic disease +GARD:0012820,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0012821,GARD:0022531,GARD:0020433,GARD:0016066,Rare genetic disease +GARD:0012821,GARD:0022524,GARD:0021901,GARD:0016066,Rare neurologic disease +GARD:0012821,GARD:0022531,GARD:0020432,GARD:0016066,Rare genetic disease +GARD:0012821,GARD:0022524,GARD:0012033,GARD:0016066,Rare neurologic disease +GARD:0012821,GARD:0022524,GARD:0012033,GARD:0015209,Rare neurologic disease +GARD:0012821,GARD:0022531,GARD:0020433,GARD:0015946,Rare genetic disease +GARD:0012821,GARD:0022524,GARD:0021901,GARD:0016007,Rare neurologic disease +GARD:0012821,GARD:0022531,GARD:0012033,GARD:0016007,Rare genetic disease +GARD:0012821,GARD:0022531,GARD:0020433,GARD:0015209,Rare genetic disease +GARD:0012821,GARD:0022531,GARD:0012033,GARD:0015946,Rare genetic disease +GARD:0012821,GARD:0022531,GARD:0021901,GARD:0015209,Rare genetic disease +GARD:0012821,GARD:0022531,GARD:0021901,GARD:0016066,Rare genetic disease +GARD:0012821,GARD:0022531,GARD:0012033,GARD:0016066,Rare genetic disease +GARD:0012821,GARD:0022531,GARD:0020433,GARD:0016007,Rare genetic disease +GARD:0012821,GARD:0022524,GARD:0012033,GARD:0010111,Rare neurologic disease +GARD:0012821,GARD:0022531,GARD:0020432,GARD:0010111,Rare genetic disease +GARD:0012821,GARD:0022531,GARD:0021901,GARD:0010111,Rare genetic disease +GARD:0012821,GARD:0022531,GARD:0020432,GARD:0015209,Rare genetic disease +GARD:0012821,GARD:0022531,GARD:0012033,GARD:0010111,Rare genetic disease +GARD:0012821,GARD:0022531,GARD:0020432,GARD:0016007,Rare genetic disease +GARD:0012821,GARD:0022524,GARD:0012033,GARD:0016007,Rare neurologic disease +GARD:0012821,GARD:0022531,GARD:0020433,GARD:0010111,Rare genetic disease +GARD:0012821,GARD:0022524,GARD:0021901,GARD:0015946,Rare neurologic disease +GARD:0012821,GARD:0022531,GARD:0012033,GARD:0015209,Rare genetic disease +GARD:0012821,GARD:0022531,GARD:0021901,GARD:0016007,Rare genetic disease +GARD:0012821,GARD:0022531,GARD:0020432,GARD:0015946,Rare genetic disease +GARD:0012821,GARD:0022524,GARD:0021901,GARD:0015209,Rare neurologic disease +GARD:0012821,GARD:0022531,GARD:0021901,GARD:0015946,Rare genetic disease +GARD:0012821,GARD:0022524,GARD:0012033,GARD:0015946,Rare neurologic disease +GARD:0012821,GARD:0022524,GARD:0021901,GARD:0010111,Rare neurologic disease +GARD:0012822,GARD:0022531,GARD:0021123,GARD:0016066,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0020433,GARD:0010111,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0020433,GARD:0015209,Rare genetic disease +GARD:0012822,GARD:0022524,GARD:0012033,GARD:0016066,Rare neurologic disease +GARD:0012822,GARD:0022524,GARD:0021901,GARD:0015454,Rare neurologic disease +GARD:0012822,GARD:0022524,GARD:0021901,GARD:0015493,Rare neurologic disease +GARD:0012822,GARD:0022531,GARD:0021901,GARD:0015493,Rare genetic disease +GARD:0012822,GARD:0022524,GARD:0012033,GARD:0015493,Rare neurologic disease +GARD:0012822,GARD:0022531,GARD:0012033,GARD:0016007,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0021901,GARD:0016066,Rare genetic disease +GARD:0012822,GARD:0022524,GARD:0012033,GARD:0016007,Rare neurologic disease +GARD:0012822,GARD:0022531,GARD:0012033,GARD:0015209,Rare genetic disease +GARD:0012822,GARD:0022524,GARD:0021901,GARD:0010111,Rare neurologic disease +GARD:0012822,GARD:0022531,GARD:0012033,GARD:0015493,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0012033,GARD:0010111,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0021123,GARD:0015454,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0021123,GARD:0016007,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0021123,GARD:0010111,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0021901,GARD:0015454,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0021901,GARD:0010111,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0021123,GARD:0015493,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0012033,GARD:0016066,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0012033,GARD:0015454,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0020433,GARD:0015454,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0020433,GARD:0015493,Rare genetic disease +GARD:0012822,GARD:0022524,GARD:0021901,GARD:0016066,Rare neurologic disease +GARD:0012822,GARD:0022531,GARD:0020432,GARD:0010111,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0020432,GARD:0015454,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0020433,GARD:0016007,Rare genetic disease +GARD:0012822,GARD:0022524,GARD:0012033,GARD:0015454,Rare neurologic disease +GARD:0012822,GARD:0022531,GARD:0020432,GARD:0016007,Rare genetic disease +GARD:0012822,GARD:0022524,GARD:0021901,GARD:0016007,Rare neurologic disease +GARD:0012822,GARD:0022531,GARD:0021901,GARD:0015209,Rare genetic disease +GARD:0012822,GARD:0022524,GARD:0021901,GARD:0015209,Rare neurologic disease +GARD:0012822,GARD:0022531,GARD:0020432,GARD:0015493,Rare genetic disease +GARD:0012822,GARD:0022524,GARD:0012033,GARD:0010111,Rare neurologic disease +GARD:0012822,GARD:0022531,GARD:0020433,GARD:0016066,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0020432,GARD:0015209,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0021901,GARD:0016007,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0021123,GARD:0015209,Rare genetic disease +GARD:0012822,GARD:0022531,GARD:0020432,GARD:0016066,Rare genetic disease +GARD:0012822,GARD:0022524,GARD:0012033,GARD:0015209,Rare neurologic disease +GARD:0012823,GARD:0022524,GARD:0012033,GARD:0010111,Rare neurologic disease +GARD:0012823,GARD:0022524,GARD:0021901,GARD:0015453,Rare neurologic disease +GARD:0012823,GARD:0022531,GARD:0021901,GARD:0015209,Rare genetic disease +GARD:0012823,GARD:0022524,GARD:0021901,GARD:0015209,Rare neurologic disease +GARD:0012823,GARD:0022531,GARD:0020432,GARD:0010111,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0021123,GARD:0010111,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0020432,GARD:0016007,Rare genetic disease +GARD:0012823,GARD:0022524,GARD:0012033,GARD:0016007,Rare neurologic disease +GARD:0012823,GARD:0022531,GARD:0020432,GARD:0015453,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0020433,GARD:0015209,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0021123,GARD:0016007,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0012033,GARD:0010111,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0021901,GARD:0015453,Rare genetic disease +GARD:0012823,GARD:0022524,GARD:0021901,GARD:0016007,Rare neurologic disease +GARD:0012823,GARD:0022524,GARD:0012033,GARD:0015209,Rare neurologic disease +GARD:0012823,GARD:0022524,GARD:0021901,GARD:0010111,Rare neurologic disease +GARD:0012823,GARD:0022531,GARD:0021123,GARD:0015209,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0020432,GARD:0015209,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0021901,GARD:0010111,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0020433,GARD:0010111,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0021123,GARD:0015453,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0020433,GARD:0016007,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0012033,GARD:0015209,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0012033,GARD:0016007,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0021901,GARD:0016007,Rare genetic disease +GARD:0012823,GARD:0022524,GARD:0012033,GARD:0015453,Rare neurologic disease +GARD:0012823,GARD:0022531,GARD:0012033,GARD:0015453,Rare genetic disease +GARD:0012823,GARD:0022531,GARD:0020433,GARD:0015453,Rare genetic disease +GARD:0012824,GARD:0022531,GARD:0012033,,Rare genetic disease +GARD:0012824,GARD:0022531,GARD:0020432,,Rare genetic disease +GARD:0012824,GARD:0022531,GARD:0020433,,Rare genetic disease +GARD:0012824,GARD:0022524,GARD:0012033,,Rare neurologic disease +GARD:0012825,GARD:0022531,GARD:0020086,GARD:0022402,Rare genetic disease +GARD:0012825,GARD:0022531,GARD:0021279,GARD:0022402,Rare genetic disease +GARD:0012825,GARD:0022524,GARD:0021279,GARD:0022402,Rare neurologic disease +GARD:0012825,GARD:0022524,GARD:0022440,GARD:0022402,Rare neurologic disease +GARD:0012825,GARD:0022524,GARD:0020099,GARD:0020771,Rare neurologic disease +GARD:0012825,GARD:0022524,GARD:0021279,GARD:0020771,Rare neurologic disease +GARD:0012825,GARD:0022524,GARD:0020099,GARD:0022402,Rare neurologic disease +GARD:0012825,GARD:0022531,GARD:0020099,GARD:0022402,Rare genetic disease +GARD:0012825,GARD:0022524,GARD:0022440,GARD:0020771,Rare neurologic disease +GARD:0012825,GARD:0022531,GARD:0020099,GARD:0020771,Rare genetic disease +GARD:0012825,GARD:0022531,GARD:0022440,GARD:0020771,Rare genetic disease +GARD:0012825,GARD:0022524,GARD:0020086,GARD:0022402,Rare neurologic disease +GARD:0012825,GARD:0022524,GARD:0020086,GARD:0020771,Rare neurologic disease +GARD:0012825,GARD:0022531,GARD:0022440,GARD:0022402,Rare genetic disease +GARD:0012825,GARD:0022531,GARD:0020086,GARD:0020771,Rare genetic disease +GARD:0012825,GARD:0022531,GARD:0021279,GARD:0020771,Rare genetic disease +GARD:0012827,GARD:0022510,GARD:0022297,GARD:0002492,Rare skin disease +GARD:0012827,GARD:0022536,GARD:0022293,GARD:0002492,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012827,GARD:0022513,GARD:0022297,GARD:0015420,Rare developmental defect during embryogenesis +GARD:0012827,GARD:0022531,GARD:0022293,GARD:0015420,Rare genetic disease +GARD:0012827,GARD:0022531,GARD:0022297,GARD:0015420,Rare genetic disease +GARD:0012827,GARD:0022510,GARD:0022297,GARD:0015420,Rare skin disease +GARD:0012827,GARD:0022527,GARD:0022297,GARD:0002492,Rare circulatory system disease +GARD:0012827,GARD:0022531,GARD:0022297,GARD:0002492,Rare genetic disease +GARD:0012827,GARD:0022527,GARD:0022297,GARD:0015420,Rare circulatory system disease +GARD:0012827,GARD:0022512,GARD:0022293,GARD:0002492,Rare renal disease +GARD:0012827,GARD:0022536,GARD:0022293,GARD:0015420,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012827,GARD:0022531,GARD:0022293,GARD:0002492,Rare genetic disease +GARD:0012827,GARD:0022513,GARD:0022297,GARD:0002492,Rare developmental defect during embryogenesis +GARD:0012827,GARD:0022512,GARD:0022293,GARD:0015420,Rare renal disease +GARD:0012829,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0012829,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0012832,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012832,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0012832,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0012835,GARD:0022536,GARD:0013337,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012835,GARD:0022517,GARD:0013337,,Rare respiratory disease +GARD:0012843,GARD:0022534,GARD:0020100,,Rare abdominal surgical disease +GARD:0012843,GARD:0022535,GARD:0020100,,Rare neoplastic disease +GARD:0012843,GARD:0022536,GARD:0022062,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012844,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0012844,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0012844,GARD:0022531,GARD:0022165,,Rare genetic disease +GARD:0012844,GARD:0022513,GARD:0022082,,Rare developmental defect during embryogenesis +GARD:0012844,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0012844,GARD:0022520,GARD:0022082,,Rare ophthalmic disorder +GARD:0012845,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0012845,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0012845,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0012845,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0012845,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012845,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0012845,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0012845,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0012845,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0012845,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0012845,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0012845,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012845,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012845,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0012851,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0012851,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0012854,GARD:0022531,GARD:0018915,,Rare genetic disease +GARD:0012854,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0012860,GARD:0022524,GARD:0010711,GARD:0013112,Rare neurologic disease +GARD:0012860,GARD:0022531,GARD:0019414,GARD:0013112,Rare genetic disease +GARD:0012860,GARD:0022531,GARD:0010711,GARD:0013112,Rare genetic disease +GARD:0012860,GARD:0022531,GARD:0022150,GARD:0013112,Rare genetic disease +GARD:0012860,GARD:0022531,GARD:0019414,GARD:0015389,Rare genetic disease +GARD:0012860,GARD:0022531,GARD:0010711,GARD:0015389,Rare genetic disease +GARD:0012860,GARD:0022531,GARD:0022150,GARD:0015389,Rare genetic disease +GARD:0012860,GARD:0022520,GARD:0022115,GARD:0013112,Rare ophthalmic disorder +GARD:0012860,GARD:0022524,GARD:0019414,GARD:0013112,Rare neurologic disease +GARD:0012860,GARD:0022524,GARD:0010711,GARD:0015389,Rare neurologic disease +GARD:0012860,GARD:0022520,GARD:0022115,GARD:0015389,Rare ophthalmic disorder +GARD:0012860,GARD:0022524,GARD:0019414,GARD:0015389,Rare neurologic disease +GARD:0012861,GARD:0022524,GARD:0009993,,Rare neurologic disease +GARD:0012861,GARD:0022513,GARD:0009993,,Rare developmental defect during embryogenesis +GARD:0012861,GARD:0022531,GARD:0009993,,Rare genetic disease +GARD:0012861,GARD:0022528,GARD:0009993,,Rare otorhinolaryngologic disease +GARD:0012861,GARD:0022520,GARD:0009993,,Rare ophthalmic disorder +GARD:0012862,GARD:0022531,GARD:0007347,GARD:0017258,Rare genetic disease +GARD:0012862,GARD:0022531,GARD:0007347,GARD:0020904,Rare genetic disease +GARD:0012862,GARD:0022510,GARD:0007347,GARD:0017258,Rare skin disease +GARD:0012862,GARD:0022510,GARD:0007347,GARD:0017259,Rare skin disease +GARD:0012862,GARD:0022531,GARD:0007347,GARD:0017259,Rare genetic disease +GARD:0012862,GARD:0022510,GARD:0007347,GARD:0020904,Rare skin disease +GARD:0012863,GARD:0022510,GARD:0007347,,Rare skin disease +GARD:0012863,GARD:0022531,GARD:0007347,,Rare genetic disease +GARD:0012864,GARD:0022508,GARD:0020230,,Rare inborn errors of metabolism +GARD:0012864,GARD:0022531,GARD:0020230,,Rare genetic disease +GARD:0012864,GARD:0022521,GARD:0020230,,Rare endocrine disease +GARD:0012867,GARD:0022535,GARD:0021389,,Rare neoplastic disease +GARD:0012867,GARD:0022529,GARD:0019699,,Rare infertility +GARD:0012867,GARD:0022521,GARD:0019699,,Rare endocrine disease +GARD:0012867,GARD:0022521,GARD:0021389,,Rare endocrine disease +GARD:0012868,GARD:0022531,GARD:0022184,,Rare genetic disease +GARD:0012868,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0012868,GARD:0022520,GARD:0022104,,Rare ophthalmic disorder +GARD:0012874,GARD:0022531,GARD:0008695,,Rare genetic disease +GARD:0012874,GARD:0022511,GARD:0008695,,Rare bone disease +GARD:0012874,GARD:0022526,GARD:0008695,,Rare odontologic disease +GARD:0012874,GARD:0022513,GARD:0008695,,Rare developmental defect during embryogenesis +GARD:0012874,GARD:0022520,GARD:0008695,,Rare ophthalmic disorder +GARD:0012875,GARD:0022520,GARD:0008695,,Rare ophthalmic disorder +GARD:0012875,GARD:0022531,GARD:0008695,,Rare genetic disease +GARD:0012875,GARD:0022526,GARD:0008695,,Rare odontologic disease +GARD:0012875,GARD:0022531,GARD:0008696,,Rare genetic disease +GARD:0012875,GARD:0022511,GARD:0008695,,Rare bone disease +GARD:0012875,GARD:0022511,GARD:0008696,,Rare bone disease +GARD:0012875,GARD:0022520,GARD:0008696,,Rare ophthalmic disorder +GARD:0012875,GARD:0022513,GARD:0008696,,Rare developmental defect during embryogenesis +GARD:0012875,GARD:0022526,GARD:0008696,,Rare odontologic disease +GARD:0012875,GARD:0022513,GARD:0008695,,Rare developmental defect during embryogenesis +GARD:0012889,GARD:0022524,GARD:0020456,,Rare neurologic disease +GARD:0012889,GARD:0022531,GARD:0018915,,Rare genetic disease +GARD:0012892,GARD:0022515,GARD:0020521,,Rare cardiac disease +GARD:0012892,GARD:0022536,GARD:0020521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012892,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0012892,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0012892,GARD:0022531,GARD:0020521,,Rare genetic disease +GARD:0012893,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0012893,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0012893,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0012893,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0012894,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0012900,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0012900,GARD:0022524,GARD:0010430,,Rare neurologic disease +GARD:0012900,GARD:0022531,GARD:0010430,,Rare genetic disease +GARD:0012900,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0012901,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0012901,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0012903,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0012903,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012903,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012903,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0012913,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012913,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012913,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0012913,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012913,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0012915,GARD:0022523,GARD:0017464,,Rare immune disease +GARD:0012915,GARD:0022531,GARD:0017464,,Rare genetic disease +GARD:0012916,GARD:0022522,GARD:0019456,GARD:0016275,Rare hematologic disease +GARD:0012916,GARD:0022531,GARD:0019456,GARD:0016275,Rare genetic disease +GARD:0012919,GARD:0022524,GARD:0020242,GARD:0016147,Rare neurologic disease +GARD:0012919,GARD:0022531,GARD:0020242,GARD:0013318,Rare genetic disease +GARD:0012919,GARD:0022531,GARD:0019435,GARD:0015945,Rare genetic disease +GARD:0012919,GARD:0022524,GARD:0019435,GARD:0013318,Rare neurologic disease +GARD:0012919,GARD:0022531,GARD:0019569,GARD:0013318,Rare genetic disease +GARD:0012919,GARD:0022524,GARD:0020242,GARD:0013318,Rare neurologic disease +GARD:0012919,GARD:0022531,GARD:0020242,GARD:0016147,Rare genetic disease +GARD:0012919,GARD:0022531,GARD:0019569,GARD:0016147,Rare genetic disease +GARD:0012919,GARD:0022531,GARD:0019435,GARD:0016147,Rare genetic disease +GARD:0012919,GARD:0022531,GARD:0019569,GARD:0015886,Rare genetic disease +GARD:0012919,GARD:0022524,GARD:0020242,GARD:0015886,Rare neurologic disease +GARD:0012919,GARD:0022531,GARD:0019435,GARD:0015886,Rare genetic disease +GARD:0012919,GARD:0022524,GARD:0019435,GARD:0016147,Rare neurologic disease +GARD:0012919,GARD:0022531,GARD:0020242,GARD:0015945,Rare genetic disease +GARD:0012919,GARD:0022531,GARD:0019569,GARD:0015945,Rare genetic disease +GARD:0012919,GARD:0022531,GARD:0019435,GARD:0013318,Rare genetic disease +GARD:0012919,GARD:0022524,GARD:0019435,GARD:0015945,Rare neurologic disease +GARD:0012919,GARD:0022531,GARD:0020242,GARD:0015886,Rare genetic disease +GARD:0012919,GARD:0022524,GARD:0020242,GARD:0015945,Rare neurologic disease +GARD:0012919,GARD:0022524,GARD:0019435,GARD:0015886,Rare neurologic disease +GARD:0012921,GARD:0022531,GARD:0002152,,Rare genetic disease +GARD:0012921,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0012921,GARD:0022513,GARD:0002152,,Rare developmental defect during embryogenesis +GARD:0012921,GARD:0022510,GARD:0002152,,Rare skin disease +GARD:0012922,GARD:0022513,GARD:0002152,,Rare developmental defect during embryogenesis +GARD:0012922,GARD:0022510,GARD:0002152,,Rare skin disease +GARD:0012922,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0012922,GARD:0022531,GARD:0002152,,Rare genetic disease +GARD:0012923,GARD:0022510,GARD:0002152,,Rare skin disease +GARD:0012923,GARD:0022531,GARD:0002152,,Rare genetic disease +GARD:0012923,GARD:0022513,GARD:0002152,,Rare developmental defect during embryogenesis +GARD:0012923,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0012924,GARD:0022514,GARD:0020049,GARD:0018392,Rare gynecologic or obstetric disease +GARD:0012924,GARD:0022514,GARD:0020049,GARD:0018393,Rare gynecologic or obstetric disease +GARD:0012924,GARD:0022514,GARD:0020049,GARD:0018391,Rare gynecologic or obstetric disease +GARD:0012924,GARD:0022514,GARD:0020049,GARD:0018389,Rare gynecologic or obstetric disease +GARD:0012924,GARD:0022514,GARD:0020049,GARD:0018390,Rare gynecologic or obstetric disease +GARD:0012925,GARD:0022531,GARD:0020275,,Rare genetic disease +GARD:0012925,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0012927,GARD:0022528,GARD:0018880,,Rare otorhinolaryngologic disease +GARD:0012928,GARD:0022535,GARD:0006513,GARD:0020704,Rare neoplastic disease +GARD:0012928,GARD:0022524,GARD:0006513,GARD:0020706,Rare neurologic disease +GARD:0012928,GARD:0022535,GARD:0006513,GARD:0020706,Rare neoplastic disease +GARD:0012928,GARD:0022524,GARD:0006513,GARD:0020704,Rare neurologic disease +GARD:0012931,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0012931,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0012931,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0012943,GARD:0022521,GARD:0006735,,Rare endocrine disease +GARD:0012943,GARD:0022511,GARD:0006735,,Rare bone disease +GARD:0012943,GARD:0022512,GARD:0006735,,Rare renal disease +GARD:0012943,GARD:0022513,GARD:0006735,,Rare developmental defect during embryogenesis +GARD:0012943,GARD:0022531,GARD:0006735,,Rare genetic disease +GARD:0012949,GARD:0022524,GARD:0007887,,Rare neurologic disease +GARD:0012949,GARD:0022531,GARD:0007887,,Rare genetic disease +GARD:0012958,GARD:0022523,GARD:0015025,,Rare immune disease +GARD:0012958,GARD:0022531,GARD:0015025,,Rare genetic disease +GARD:0012959,GARD:0022524,GARD:0022141,GARD:0016610,Rare neurologic disease +GARD:0012959,GARD:0022524,GARD:0022141,GARD:0010428,Rare neurologic disease +GARD:0012959,GARD:0022524,GARD:0022141,GARD:0001903,Rare neurologic disease +GARD:0012959,GARD:0022524,GARD:0022141,GARD:0007079,Rare neurologic disease +GARD:0012959,GARD:0022524,GARD:0022141,GARD:0007581,Rare neurologic disease +GARD:0012959,GARD:0022524,GARD:0022141,GARD:0003791,Rare neurologic disease +GARD:0012959,GARD:0022524,GARD:0022141,GARD:0017684,Rare neurologic disease +GARD:0012963,GARD:0022508,GARD:0012966,,Rare inborn errors of metabolism +GARD:0012963,GARD:0022508,GARD:0021322,,Rare inborn errors of metabolism +GARD:0012963,GARD:0022531,GARD:0012966,,Rare genetic disease +GARD:0012963,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0012963,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0012963,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0012963,GARD:0022531,GARD:0021322,,Rare genetic disease +GARD:0012963,GARD:0022508,GARD:0021517,,Rare inborn errors of metabolism +GARD:0012963,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0012963,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0012963,GARD:0022531,GARD:0021517,,Rare genetic disease +GARD:0012964,GARD:0022536,GARD:0020529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012964,GARD:0022508,GARD:0012966,,Rare inborn errors of metabolism +GARD:0012964,GARD:0022531,GARD:0020529,,Rare genetic disease +GARD:0012964,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012964,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012964,GARD:0022531,GARD:0012966,,Rare genetic disease +GARD:0012964,GARD:0022515,GARD:0020529,,Rare cardiac disease +GARD:0012966,GARD:0022508,GARD:0018947,GARD:0022050,Rare inborn errors of metabolism +GARD:0012966,GARD:0022508,GARD:0018947,GARD:0005663,Rare inborn errors of metabolism +GARD:0012966,GARD:0022508,GARD:0018947,GARD:0005890,Rare inborn errors of metabolism +GARD:0012966,GARD:0022531,GARD:0018947,GARD:0010321,Rare genetic disease +GARD:0012966,GARD:0022508,GARD:0018947,GARD:0017940,Rare inborn errors of metabolism +GARD:0012966,GARD:0022531,GARD:0018947,GARD:0012964,Rare genetic disease +GARD:0012966,GARD:0022508,GARD:0018947,GARD:0010342,Rare inborn errors of metabolism +GARD:0012966,GARD:0022531,GARD:0018947,GARD:0005663,Rare genetic disease +GARD:0012966,GARD:0022508,GARD:0018947,GARD:0012963,Rare inborn errors of metabolism +GARD:0012966,GARD:0022531,GARD:0018947,GARD:0017767,Rare genetic disease +GARD:0012966,GARD:0022508,GARD:0018947,GARD:0017767,Rare inborn errors of metabolism +GARD:0012966,GARD:0022531,GARD:0018947,GARD:0010342,Rare genetic disease +GARD:0012966,GARD:0022531,GARD:0018947,GARD:0017940,Rare genetic disease +GARD:0012966,GARD:0022531,GARD:0018947,GARD:0022050,Rare genetic disease +GARD:0012966,GARD:0022531,GARD:0018947,GARD:0005890,Rare genetic disease +GARD:0012966,GARD:0022508,GARD:0018947,GARD:0012964,Rare inborn errors of metabolism +GARD:0012966,GARD:0022531,GARD:0018947,GARD:0012963,Rare genetic disease +GARD:0012966,GARD:0022508,GARD:0018947,GARD:0010321,Rare inborn errors of metabolism +GARD:0012976,GARD:0022531,GARD:0021422,,Rare genetic disease +GARD:0012976,GARD:0022523,GARD:0021422,,Rare immune disease +GARD:0012977,GARD:0022531,GARD:0020322,GARD:0021422,Rare genetic disease +GARD:0012977,GARD:0022531,GARD:0020322,GARD:0021423,Rare genetic disease +GARD:0012977,GARD:0022531,GARD:0020322,GARD:0017464,Rare genetic disease +GARD:0012977,GARD:0022523,GARD:0020322,GARD:0021423,Rare immune disease +GARD:0012977,GARD:0022523,GARD:0020322,GARD:0021424,Rare immune disease +GARD:0012977,GARD:0022523,GARD:0020322,GARD:0017464,Rare immune disease +GARD:0012977,GARD:0022531,GARD:0020322,GARD:0021424,Rare genetic disease +GARD:0012977,GARD:0022523,GARD:0020322,GARD:0021422,Rare immune disease +GARD:0012978,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0012978,GARD:0022524,GARD:0020363,,Rare neurologic disease +GARD:0012978,GARD:0022524,GARD:0021267,,Rare neurologic disease +GARD:0012978,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012978,GARD:0022531,GARD:0020363,,Rare genetic disease +GARD:0012978,GARD:0022531,GARD:0021285,,Rare genetic disease +GARD:0012978,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012978,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0012980,GARD:0022535,GARD:0018878,,Rare neoplastic disease +GARD:0012980,GARD:0022522,GARD:0018878,,Rare hematologic disease +GARD:0012983,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0012983,GARD:0022531,GARD:0019463,,Rare genetic disease +GARD:0012983,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0012983,GARD:0022516,GARD:0019842,,Rare gastroenterologic disease +GARD:0012983,GARD:0022508,GARD:0021131,,Rare inborn errors of metabolism +GARD:0012983,GARD:0022522,GARD:0019463,,Rare hematologic disease +GARD:0012983,GARD:0022531,GARD:0021131,,Rare genetic disease +GARD:0012983,GARD:0022531,GARD:0021510,,Rare genetic disease +GARD:0012983,GARD:0022531,GARD:0019842,,Rare genetic disease +GARD:0012983,GARD:0022523,GARD:0021510,,Rare immune disease +GARD:0012986,GARD:0022536,GARD:0020528,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012986,GARD:0022515,GARD:0020528,,Rare cardiac disease +GARD:0012986,GARD:0022531,GARD:0020765,,Rare genetic disease +GARD:0012986,GARD:0022531,GARD:0020528,,Rare genetic disease +GARD:0012986,GARD:0022531,GARD:0020522,,Rare genetic disease +GARD:0012986,GARD:0022536,GARD:0020522,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0012986,GARD:0022515,GARD:0020522,,Rare cardiac disease +GARD:0012986,GARD:0022508,GARD:0020765,,Rare inborn errors of metabolism +GARD:0012987,GARD:0022531,GARD:0019929,,Rare genetic disease +GARD:0012987,GARD:0022524,GARD:0019929,,Rare neurologic disease +GARD:0012991,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0013003,GARD:0022510,GARD:0020043,,Rare skin disease +GARD:0013004,GARD:0022506,GARD:0019788,,Rare hepatic disease +GARD:0013004,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013007,GARD:0022522,GARD:0018883,GARD:0016276,Rare hematologic disease +GARD:0013007,GARD:0022536,GARD:0018883,GARD:0016277,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013007,GARD:0022531,GARD:0021934,GARD:0016277,Rare genetic disease +GARD:0013007,GARD:0022531,GARD:0021934,GARD:0016276,Rare genetic disease +GARD:0013007,GARD:0022536,GARD:0018883,GARD:0016276,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013007,GARD:0022522,GARD:0018883,GARD:0016277,Rare hematologic disease +GARD:0013011,GARD:0022525,GARD:0019983,GARD:0003652,Rare systemic or rheumatologic disease +GARD:0013011,GARD:0022536,GARD:0020941,GARD:0003652,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013011,GARD:0022536,GARD:0020941,GARD:0006111,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013011,GARD:0022517,GARD:0020941,GARD:0007880,Rare respiratory disease +GARD:0013011,GARD:0022527,GARD:0019983,GARD:0006111,Rare circulatory system disease +GARD:0013011,GARD:0021079,GARD:0021081,GARD:0003652,Rare systemic or rheumatological disease of childhood +GARD:0013011,GARD:0022527,GARD:0019983,GARD:0003652,Rare circulatory system disease +GARD:0013011,GARD:0022525,GARD:0019983,GARD:0006111,Rare systemic or rheumatologic disease +GARD:0013011,GARD:0021079,GARD:0021081,GARD:0006111,Rare systemic or rheumatological disease of childhood +GARD:0013011,GARD:0022517,GARD:0020941,GARD:0006111,Rare respiratory disease +GARD:0013011,GARD:0022517,GARD:0020941,GARD:0003652,Rare respiratory disease +GARD:0013011,GARD:0022525,GARD:0019983,GARD:0007880,Rare systemic or rheumatologic disease +GARD:0013011,GARD:0022527,GARD:0019983,GARD:0007880,Rare circulatory system disease +GARD:0013011,GARD:0022536,GARD:0020941,GARD:0007880,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013011,GARD:0021079,GARD:0021081,GARD:0007880,Rare systemic or rheumatological disease of childhood +GARD:0013015,GARD:0022529,GARD:0020220,,Rare infertility +GARD:0013015,GARD:0022531,GARD:0019439,,Rare genetic disease +GARD:0013015,GARD:0022514,GARD:0020220,,Rare gynecologic or obstetric disease +GARD:0013015,GARD:0022521,GARD:0019439,,Rare endocrine disease +GARD:0013015,GARD:0022531,GARD:0020220,,Rare genetic disease +GARD:0013015,GARD:0022521,GARD:0020220,,Rare endocrine disease +GARD:0013016,GARD:0022531,GARD:0022459,GARD:0018342,Rare genetic disease +GARD:0013016,GARD:0022525,GARD:0020257,GARD:0018343,Rare systemic or rheumatologic disease +GARD:0013016,GARD:0022531,GARD:0022203,GARD:0018342,Rare genetic disease +GARD:0013016,GARD:0022531,GARD:0022459,GARD:0018343,Rare genetic disease +GARD:0013016,GARD:0022523,GARD:0022203,GARD:0018343,Rare immune disease +GARD:0013016,GARD:0022536,GARD:0022203,GARD:0018342,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013016,GARD:0022531,GARD:0022203,GARD:0018343,Rare genetic disease +GARD:0013016,GARD:0022536,GARD:0022203,GARD:0018343,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013016,GARD:0022525,GARD:0020257,GARD:0018342,Rare systemic or rheumatologic disease +GARD:0013016,GARD:0022523,GARD:0022203,GARD:0018342,Rare immune disease +GARD:0013016,GARD:0022516,GARD:0022203,GARD:0018343,Rare gastroenterologic disease +GARD:0013016,GARD:0022516,GARD:0022203,GARD:0018342,Rare gastroenterologic disease +GARD:0013019,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0013019,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0013019,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0013019,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0013020,GARD:0022513,GARD:0021915,,Rare developmental defect during embryogenesis +GARD:0013020,GARD:0022527,GARD:0021915,,Rare circulatory system disease +GARD:0013025,GARD:0022510,GARD:0018997,,Rare skin disease +GARD:0013025,GARD:0022531,GARD:0018997,,Rare genetic disease +GARD:0013030,GARD:0022536,GARD:0022063,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013030,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0013030,GARD:0022513,GARD:0021153,,Rare developmental defect during embryogenesis +GARD:0013030,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0013030,GARD:0022527,GARD:0021153,,Rare circulatory system disease +GARD:0013030,GARD:0022522,GARD:0018878,,Rare hematologic disease +GARD:0013030,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0013030,GARD:0022535,GARD:0018878,,Rare neoplastic disease +GARD:0013030,GARD:0022531,GARD:0021153,,Rare genetic disease +GARD:0013030,GARD:0022510,GARD:0021153,,Rare skin disease +GARD:0013032,GARD:0022531,GARD:0020041,,Rare genetic disease +GARD:0013032,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013032,GARD:0022513,GARD:0020041,,Rare developmental defect during embryogenesis +GARD:0013032,GARD:0022524,GARD:0020041,,Rare neurologic disease +GARD:0013032,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013032,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013034,GARD:0022516,GARD:0022052,GARD:0022054,Rare gastroenterologic disease +GARD:0013034,GARD:0022535,GARD:0022052,GARD:0022054,Rare neoplastic disease +GARD:0013034,GARD:0022535,GARD:0022052,GARD:0022053,Rare neoplastic disease +GARD:0013034,GARD:0022516,GARD:0022052,GARD:0022053,Rare gastroenterologic disease +GARD:0013034,GARD:0022521,GARD:0022052,GARD:0022053,Rare endocrine disease +GARD:0013034,GARD:0022521,GARD:0022052,GARD:0022054,Rare endocrine disease +GARD:0013040,GARD:0022510,GARD:0019010,,Rare skin disease +GARD:0013041,GARD:0022531,GARD:0016544,,Rare genetic disease +GARD:0013041,GARD:0022522,GARD:0016544,,Rare hematologic disease +GARD:0013041,GARD:0022525,GARD:0016544,,Rare systemic or rheumatologic disease +GARD:0013041,GARD:0022511,GARD:0016544,,Rare bone disease +GARD:0013043,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013043,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013043,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013046,GARD:0022511,GARD:0020547,,Rare bone disease +GARD:0013046,GARD:0022535,GARD:0020547,,Rare neoplastic disease +GARD:0013047,GARD:0022535,GARD:0021549,GARD:0016921,Rare neoplastic disease +GARD:0013047,GARD:0022535,GARD:0021554,GARD:0017561,Rare neoplastic disease +GARD:0013047,GARD:0022532,GARD:0021549,GARD:0004792,Rare urogenital disease +GARD:0013047,GARD:0022536,GARD:0021554,GARD:0004792,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013047,GARD:0022535,GARD:0021554,GARD:0004792,Rare neoplastic disease +GARD:0013047,GARD:0022532,GARD:0021549,GARD:0016921,Rare urogenital disease +GARD:0013047,GARD:0022535,GARD:0021549,GARD:0017561,Rare neoplastic disease +GARD:0013047,GARD:0022532,GARD:0021549,GARD:0017561,Rare urogenital disease +GARD:0013047,GARD:0022535,GARD:0021549,GARD:0004792,Rare neoplastic disease +GARD:0013047,GARD:0022536,GARD:0021554,GARD:0017561,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013047,GARD:0022535,GARD:0021554,GARD:0016921,Rare neoplastic disease +GARD:0013047,GARD:0022536,GARD:0021554,GARD:0016921,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013056,GARD:0022531,GARD:0020030,,Rare genetic disease +GARD:0013056,GARD:0022522,GARD:0022522,,Rare hematologic disease +GARD:0013058,GARD:0022531,GARD:0021177,,Rare genetic disease +GARD:0013058,GARD:0022531,GARD:0000786,,Rare genetic disease +GARD:0013058,GARD:0022513,GARD:0000786,,Rare developmental defect during embryogenesis +GARD:0013058,GARD:0022513,GARD:0021177,,Rare developmental defect during embryogenesis +GARD:0013059,GARD:0022513,GARD:0000786,,Rare developmental defect during embryogenesis +GARD:0013059,GARD:0022531,GARD:0000786,,Rare genetic disease +GARD:0013060,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0013060,GARD:0022531,GARD:0019571,,Rare genetic disease +GARD:0013060,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0013060,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0013060,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0013063,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0013063,GARD:0022527,GARD:0020462,,Rare circulatory system disease +GARD:0013063,GARD:0022513,GARD:0020462,,Rare developmental defect during embryogenesis +GARD:0013070,GARD:0022524,GARD:0006102,,Rare neurologic disease +GARD:0013072,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0013072,GARD:0022508,GARD:0021357,,Rare inborn errors of metabolism +GARD:0013072,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0013072,GARD:0022531,GARD:0021357,,Rare genetic disease +GARD:0013073,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0013073,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0013073,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0013075,GARD:0022524,GARD:0020704,,Rare neurologic disease +GARD:0013075,GARD:0022535,GARD:0020704,,Rare neoplastic disease +GARD:0013085,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0013085,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0013101,GARD:0022521,GARD:0019798,,Rare endocrine disease +GARD:0013101,GARD:0022531,GARD:0020316,,Rare genetic disease +GARD:0013101,GARD:0022531,GARD:0020685,,Rare genetic disease +GARD:0013105,GARD:0022512,GARD:0006735,GARD:0001804,Rare renal disease +GARD:0013105,GARD:0022531,GARD:0006735,GARD:0001804,Rare genetic disease +GARD:0013105,GARD:0022536,GARD:0022061,GARD:0001804,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013105,GARD:0022521,GARD:0006735,GARD:0001804,Rare endocrine disease +GARD:0013105,GARD:0022513,GARD:0006735,GARD:0001804,Rare developmental defect during embryogenesis +GARD:0013105,GARD:0022531,GARD:0006735,GARD:0010645,Rare genetic disease +GARD:0013105,GARD:0022511,GARD:0006735,GARD:0001804,Rare bone disease +GARD:0013105,GARD:0022512,GARD:0006735,GARD:0010645,Rare renal disease +GARD:0013105,GARD:0022511,GARD:0006735,GARD:0010645,Rare bone disease +GARD:0013105,GARD:0022521,GARD:0006735,GARD:0010645,Rare endocrine disease +GARD:0013105,GARD:0022513,GARD:0006735,GARD:0010645,Rare developmental defect during embryogenesis +GARD:0013105,GARD:0022536,GARD:0022061,GARD:0010645,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013108,GARD:0022521,GARD:0022385,,Rare endocrine disease +GARD:0013108,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0013108,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0013108,GARD:0022521,GARD:0020226,,Rare endocrine disease +GARD:0013108,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0013108,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0013108,GARD:0022531,GARD:0020226,,Rare genetic disease +GARD:0013108,GARD:0022531,GARD:0022385,,Rare genetic disease +GARD:0013108,GARD:0022521,GARD:0019146,,Rare endocrine disease +GARD:0013108,GARD:0022531,GARD:0020012,,Rare genetic disease +GARD:0013110,GARD:0022524,GARD:0005023,,Rare neurologic disease +GARD:0013110,GARD:0022521,GARD:0005023,,Rare endocrine disease +GARD:0013111,GARD:0022531,GARD:0010711,,Rare genetic disease +GARD:0013111,GARD:0022520,GARD:0019547,,Rare ophthalmic disorder +GARD:0013111,GARD:0022531,GARD:0021596,,Rare genetic disease +GARD:0013111,GARD:0022524,GARD:0019416,,Rare neurologic disease +GARD:0013111,GARD:0022524,GARD:0010711,,Rare neurologic disease +GARD:0013111,GARD:0022524,GARD:0021596,,Rare neurologic disease +GARD:0013111,GARD:0022531,GARD:0019416,,Rare genetic disease +GARD:0013111,GARD:0022531,GARD:0019547,,Rare genetic disease +GARD:0013112,GARD:0022520,GARD:0012860,,Rare ophthalmic disorder +GARD:0013112,GARD:0022531,GARD:0012860,,Rare genetic disease +GARD:0013112,GARD:0022524,GARD:0012860,,Rare neurologic disease +GARD:0013113,GARD:0022531,GARD:0017820,,Rare genetic disease +GARD:0013113,GARD:0022506,GARD:0017820,,Rare hepatic disease +GARD:0013114,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0013114,GARD:0022531,GARD:0020005,,Rare genetic disease +GARD:0013124,GARD:0022517,GARD:0018904,,Rare respiratory disease +GARD:0013125,GARD:0022521,GARD:0011962,,Rare endocrine disease +GARD:0013125,GARD:0022531,GARD:0011962,,Rare genetic disease +GARD:0013125,GARD:0022510,GARD:0011962,,Rare skin disease +GARD:0013126,GARD:0022521,GARD:0011962,,Rare endocrine disease +GARD:0013126,GARD:0022510,GARD:0011962,,Rare skin disease +GARD:0013126,GARD:0022531,GARD:0011962,,Rare genetic disease +GARD:0013136,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0013136,GARD:0022524,GARD:0017724,,Rare neurologic disease +GARD:0013136,GARD:0022531,GARD:0017724,,Rare genetic disease +GARD:0013136,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0013136,GARD:0022513,GARD:0017724,,Rare developmental defect during embryogenesis +GARD:0013137,GARD:0022522,GARD:0003579,,Rare hematologic disease +GARD:0013137,GARD:0022531,GARD:0003579,,Rare genetic disease +GARD:0013137,GARD:0022508,GARD:0003579,,Rare inborn errors of metabolism +GARD:0013142,GARD:0022524,GARD:0019815,,Rare neurologic disease +GARD:0013154,GARD:0022531,GARD:0020361,,Rare genetic disease +GARD:0013154,GARD:0022531,GARD:0020430,,Rare genetic disease +GARD:0013154,GARD:0022524,GARD:0020361,,Rare neurologic disease +GARD:0013155,GARD:0022520,GARD:0001898,,Rare ophthalmic disorder +GARD:0013155,GARD:0022531,GARD:0001898,,Rare genetic disease +GARD:0013155,GARD:0022513,GARD:0001898,,Rare developmental defect during embryogenesis +GARD:0013156,GARD:0022535,GARD:0006513,GARD:0009472,Rare neoplastic disease +GARD:0013156,GARD:0022535,GARD:0006513,GARD:0009953,Rare neoplastic disease +GARD:0013156,GARD:0022524,GARD:0006513,GARD:0009953,Rare neurologic disease +GARD:0013156,GARD:0022524,GARD:0006513,GARD:0009472,Rare neurologic disease +GARD:0013157,GARD:0022512,GARD:0021420,,Rare renal disease +GARD:0013157,GARD:0022531,GARD:0021420,,Rare genetic disease +GARD:0013157,GARD:0022535,GARD:0021420,,Rare neoplastic disease +GARD:0013158,GARD:0022509,GARD:0021239,,Rare infectious disease +GARD:0013160,GARD:0022531,GARD:0019531,GARD:0009682,Rare genetic disease +GARD:0013160,GARD:0022531,GARD:0018890,GARD:0006049,Rare genetic disease +GARD:0013160,GARD:0022531,GARD:0008542,GARD:0009682,Rare genetic disease +GARD:0013160,GARD:0022511,GARD:0008542,GARD:0009682,Rare bone disease +GARD:0013160,GARD:0022524,GARD:0018890,GARD:0013320,Rare neurologic disease +GARD:0013160,GARD:0022508,GARD:0018790,GARD:0009429,Rare inborn errors of metabolism +GARD:0013160,GARD:0022513,GARD:0008542,GARD:0013320,Rare developmental defect during embryogenesis +GARD:0013160,GARD:0022531,GARD:0018890,GARD:0009429,Rare genetic disease +GARD:0013160,GARD:0022531,GARD:0020551,GARD:0009429,Rare genetic disease +GARD:0013160,GARD:0022531,GARD:0020551,GARD:0013320,Rare genetic disease +GARD:0013160,GARD:0022524,GARD:0018890,GARD:0009682,Rare neurologic disease +GARD:0013160,GARD:0022508,GARD:0018790,GARD:0013320,Rare inborn errors of metabolism +GARD:0013160,GARD:0022524,GARD:0020551,GARD:0009429,Rare neurologic disease +GARD:0013160,GARD:0022520,GARD:0019531,GARD:0006049,Rare ophthalmic disorder +GARD:0013160,GARD:0022524,GARD:0018890,GARD:0009429,Rare neurologic disease +GARD:0013160,GARD:0022511,GARD:0008542,GARD:0009429,Rare bone disease +GARD:0013160,GARD:0022513,GARD:0008542,GARD:0006049,Rare developmental defect during embryogenesis +GARD:0013160,GARD:0022531,GARD:0018890,GARD:0013320,Rare genetic disease +GARD:0013160,GARD:0022531,GARD:0008542,GARD:0009429,Rare genetic disease +GARD:0013160,GARD:0022531,GARD:0020551,GARD:0006049,Rare genetic disease +GARD:0013160,GARD:0022531,GARD:0018790,GARD:0006049,Rare genetic disease +GARD:0013160,GARD:0022508,GARD:0018790,GARD:0006049,Rare inborn errors of metabolism +GARD:0013160,GARD:0022520,GARD:0019531,GARD:0013320,Rare ophthalmic disorder +GARD:0013160,GARD:0022511,GARD:0008542,GARD:0006049,Rare bone disease +GARD:0013160,GARD:0022524,GARD:0020551,GARD:0009682,Rare neurologic disease +GARD:0013160,GARD:0022520,GARD:0019531,GARD:0009682,Rare ophthalmic disorder +GARD:0013160,GARD:0022531,GARD:0019531,GARD:0013320,Rare genetic disease +GARD:0013160,GARD:0022531,GARD:0019531,GARD:0006049,Rare genetic disease +GARD:0013160,GARD:0022508,GARD:0018790,GARD:0009682,Rare inborn errors of metabolism +GARD:0013160,GARD:0022531,GARD:0008542,GARD:0006049,Rare genetic disease +GARD:0013160,GARD:0022531,GARD:0018890,GARD:0009682,Rare genetic disease +GARD:0013160,GARD:0022511,GARD:0008542,GARD:0013320,Rare bone disease +GARD:0013160,GARD:0022524,GARD:0020551,GARD:0013320,Rare neurologic disease +GARD:0013160,GARD:0022513,GARD:0008542,GARD:0009429,Rare developmental defect during embryogenesis +GARD:0013160,GARD:0022531,GARD:0018790,GARD:0009682,Rare genetic disease +GARD:0013160,GARD:0022513,GARD:0008542,GARD:0009682,Rare developmental defect during embryogenesis +GARD:0013160,GARD:0022520,GARD:0019531,GARD:0009429,Rare ophthalmic disorder +GARD:0013160,GARD:0022524,GARD:0018890,GARD:0006049,Rare neurologic disease +GARD:0013160,GARD:0022531,GARD:0019531,GARD:0009429,Rare genetic disease +GARD:0013160,GARD:0022524,GARD:0020551,GARD:0006049,Rare neurologic disease +GARD:0013160,GARD:0022531,GARD:0008542,GARD:0013320,Rare genetic disease +GARD:0013160,GARD:0022531,GARD:0018790,GARD:0013320,Rare genetic disease +GARD:0013160,GARD:0022531,GARD:0020551,GARD:0009682,Rare genetic disease +GARD:0013160,GARD:0022531,GARD:0018790,GARD:0009429,Rare genetic disease +GARD:0013163,GARD:0022508,GARD:0018947,GARD:0017390,Rare inborn errors of metabolism +GARD:0013163,GARD:0022508,GARD:0018947,GARD:0012623,Rare inborn errors of metabolism +GARD:0013163,GARD:0022531,GARD:0018947,GARD:0003586,Rare genetic disease +GARD:0013163,GARD:0022508,GARD:0018947,GARD:0003586,Rare inborn errors of metabolism +GARD:0013163,GARD:0022531,GARD:0018947,GARD:0012623,Rare genetic disease +GARD:0013163,GARD:0022531,GARD:0018947,GARD:0017390,Rare genetic disease +GARD:0013167,GARD:0022531,GARD:0020266,,Rare genetic disease +GARD:0013167,GARD:0022510,GARD:0018994,,Rare skin disease +GARD:0013168,GARD:0022524,GARD:0021268,,Rare neurologic disease +GARD:0013168,GARD:0022531,GARD:0021268,,Rare genetic disease +GARD:0013168,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0013168,GARD:0022524,GARD:0019485,,Rare neurologic disease +GARD:0013169,GARD:0022531,GARD:0021609,,Rare genetic disease +GARD:0013169,GARD:0022508,GARD:0021337,,Rare inborn errors of metabolism +GARD:0013169,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0013169,GARD:0022513,GARD:0021609,,Rare developmental defect during embryogenesis +GARD:0013169,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0013169,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0013169,GARD:0022531,GARD:0021337,,Rare genetic disease +GARD:0013171,GARD:0022531,GARD:0010903,GARD:0004977,Rare genetic disease +GARD:0013171,GARD:0022513,GARD:0010903,GARD:0004977,Rare developmental defect during embryogenesis +GARD:0013171,GARD:0022531,GARD:0010903,GARD:0000995,Rare genetic disease +GARD:0013171,GARD:0022513,GARD:0010903,GARD:0000995,Rare developmental defect during embryogenesis +GARD:0013171,GARD:0022511,GARD:0010903,GARD:0000995,Rare bone disease +GARD:0013171,GARD:0022511,GARD:0010903,GARD:0004977,Rare bone disease +GARD:0013173,GARD:0022524,GARD:0020239,,Rare neurologic disease +GARD:0013173,GARD:0022524,GARD:0020417,,Rare neurologic disease +GARD:0013173,GARD:0022524,GARD:0020409,,Rare neurologic disease +GARD:0013174,GARD:0022524,GARD:0016486,,Rare neurologic disease +GARD:0013174,GARD:0022520,GARD:0016486,,Rare ophthalmic disorder +GARD:0013174,GARD:0022531,GARD:0016486,,Rare genetic disease +GARD:0013174,GARD:0022508,GARD:0016486,,Rare inborn errors of metabolism +GARD:0013175,GARD:0022512,GARD:0013215,,Rare renal disease +GARD:0013175,GARD:0022536,GARD:0013215,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013175,GARD:0022535,GARD:0013215,,Rare neoplastic disease +GARD:0013177,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013177,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013177,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013177,GARD:0022531,GARD:0018953,,Rare genetic disease +GARD:0013177,GARD:0022508,GARD:0018953,,Rare inborn errors of metabolism +GARD:0013179,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0013179,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0013186,GARD:0022525,GARD:0008231,,Rare systemic or rheumatologic disease +GARD:0013186,GARD:0022510,GARD:0008231,,Rare skin disease +GARD:0013197,GARD:0022524,GARD:0002169,,Rare neurologic disease +GARD:0013197,GARD:0022531,GARD:0009912,,Rare genetic disease +GARD:0013197,GARD:0022524,GARD:0009912,,Rare neurologic disease +GARD:0013197,GARD:0022531,GARD:0002169,,Rare genetic disease +GARD:0013198,GARD:0022525,GARD:0021453,,Rare systemic or rheumatologic disease +GARD:0013198,GARD:0021079,GARD:0021453,,Rare systemic or rheumatological disease of childhood +GARD:0013198,GARD:0022531,GARD:0021453,,Rare genetic disease +GARD:0013199,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0013199,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0013200,GARD:0022524,GARD:0017225,,Rare neurologic disease +GARD:0013200,GARD:0022531,GARD:0017225,,Rare genetic disease +GARD:0013200,GARD:0022508,GARD:0017225,,Rare inborn errors of metabolism +GARD:0013201,GARD:0022508,GARD:0018956,,Rare inborn errors of metabolism +GARD:0013201,GARD:0022508,GARD:0007837,,Rare inborn errors of metabolism +GARD:0013201,GARD:0022531,GARD:0018971,,Rare genetic disease +GARD:0013201,GARD:0022531,GARD:0007837,,Rare genetic disease +GARD:0013201,GARD:0022531,GARD:0018956,,Rare genetic disease +GARD:0013201,GARD:0022508,GARD:0018971,,Rare inborn errors of metabolism +GARD:0013202,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0013202,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0013202,GARD:0022531,GARD:0018947,,Rare genetic disease +GARD:0013202,GARD:0022508,GARD:0018947,,Rare inborn errors of metabolism +GARD:0013202,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0013202,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0013206,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013206,GARD:0022513,GARD:0020822,,Rare developmental defect during embryogenesis +GARD:0013206,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013206,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013206,GARD:0022531,GARD:0020822,,Rare genetic disease +GARD:0013209,GARD:0022521,GARD:0019272,,Rare endocrine disease +GARD:0013209,GARD:0022531,GARD:0019272,,Rare genetic disease +GARD:0013215,GARD:0022535,GARD:0019233,GARD:0009574,Rare neoplastic disease +GARD:0013215,GARD:0022512,GARD:0019233,GARD:0009573,Rare renal disease +GARD:0013215,GARD:0022536,GARD:0022061,GARD:0021418,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013215,GARD:0022512,GARD:0019233,GARD:0006064,Rare renal disease +GARD:0013215,GARD:0022535,GARD:0019233,GARD:0009573,Rare neoplastic disease +GARD:0013215,GARD:0022536,GARD:0022061,GARD:0021419,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013215,GARD:0022536,GARD:0022061,GARD:0009573,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013215,GARD:0022535,GARD:0019233,GARD:0021419,Rare neoplastic disease +GARD:0013215,GARD:0022512,GARD:0019233,GARD:0013175,Rare renal disease +GARD:0013215,GARD:0022535,GARD:0019233,GARD:0021722,Rare neoplastic disease +GARD:0013215,GARD:0022535,GARD:0019233,GARD:0013175,Rare neoplastic disease +GARD:0013215,GARD:0022536,GARD:0022061,GARD:0021722,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013215,GARD:0022536,GARD:0022061,GARD:0013175,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013215,GARD:0022535,GARD:0019233,GARD:0006064,Rare neoplastic disease +GARD:0013215,GARD:0022512,GARD:0019233,GARD:0021419,Rare renal disease +GARD:0013215,GARD:0022536,GARD:0022061,GARD:0009572,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013215,GARD:0022512,GARD:0019233,GARD:0021722,Rare renal disease +GARD:0013215,GARD:0022512,GARD:0019233,GARD:0021418,Rare renal disease +GARD:0013215,GARD:0022512,GARD:0019233,GARD:0017446,Rare renal disease +GARD:0013215,GARD:0022535,GARD:0019233,GARD:0021418,Rare neoplastic disease +GARD:0013215,GARD:0022536,GARD:0022061,GARD:0006064,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013215,GARD:0022536,GARD:0022061,GARD:0009574,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013215,GARD:0022512,GARD:0019233,GARD:0009574,Rare renal disease +GARD:0013215,GARD:0022535,GARD:0019233,GARD:0017446,Rare neoplastic disease +GARD:0013215,GARD:0022535,GARD:0019233,GARD:0009572,Rare neoplastic disease +GARD:0013215,GARD:0022536,GARD:0022061,GARD:0017446,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013215,GARD:0022512,GARD:0019233,GARD:0009572,Rare renal disease +GARD:0013218,GARD:0022536,GARD:0020932,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013218,GARD:0022510,GARD:0020545,,Rare skin disease +GARD:0013218,GARD:0022524,GARD:0020363,,Rare neurologic disease +GARD:0013218,GARD:0022531,GARD:0020545,,Rare genetic disease +GARD:0013218,GARD:0022517,GARD:0020932,,Rare respiratory disease +GARD:0013218,GARD:0022531,GARD:0020363,,Rare genetic disease +GARD:0013218,GARD:0022531,GARD:0020944,,Rare genetic disease +GARD:0013219,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0013219,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0013221,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0013221,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0013221,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0013221,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0013222,GARD:0022531,GARD:0017559,,Rare genetic disease +GARD:0013222,GARD:0022524,GARD:0017559,,Rare neurologic disease +GARD:0013232,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0013232,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0013235,GARD:0022513,GARD:0000713,,Rare developmental defect during embryogenesis +GARD:0013235,GARD:0022520,GARD:0000713,,Rare ophthalmic disorder +GARD:0013235,GARD:0022534,GARD:0000713,,Rare abdominal surgical disease +GARD:0013235,GARD:0022518,GARD:0000713,,Rare surgical thoracic disease +GARD:0013235,GARD:0022524,GARD:0000713,,Rare neurologic disease +GARD:0013235,GARD:0022517,GARD:0000713,,Rare respiratory disease +GARD:0013235,GARD:0022531,GARD:0000713,,Rare genetic disease +GARD:0013237,GARD:0022535,GARD:0021244,GARD:0021248,Rare neoplastic disease +GARD:0013237,GARD:0022536,GARD:0021244,GARD:0019072,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013237,GARD:0022522,GARD:0021244,GARD:0019075,Rare hematologic disease +GARD:0013237,GARD:0022535,GARD:0021244,GARD:0019072,Rare neoplastic disease +GARD:0013237,GARD:0022522,GARD:0021244,GARD:0006485,Rare hematologic disease +GARD:0013237,GARD:0022536,GARD:0021244,GARD:0021248,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013237,GARD:0022536,GARD:0021244,GARD:0019075,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013237,GARD:0022535,GARD:0021244,GARD:0019075,Rare neoplastic disease +GARD:0013237,GARD:0022536,GARD:0021244,GARD:0006485,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013237,GARD:0022522,GARD:0021244,GARD:0021248,Rare hematologic disease +GARD:0013237,GARD:0022522,GARD:0021244,GARD:0019072,Rare hematologic disease +GARD:0013237,GARD:0022535,GARD:0021244,GARD:0006485,Rare neoplastic disease +GARD:0013244,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013244,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013244,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013256,GARD:0022525,GARD:0022391,,Rare systemic or rheumatologic disease +GARD:0013256,GARD:0022524,GARD:0019818,,Rare neurologic disease +GARD:0013259,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013259,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013259,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013264,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0013264,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0013264,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0013264,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0013264,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0013264,GARD:0022531,GARD:0020753,,Rare genetic disease +GARD:0013264,GARD:0022508,GARD:0020753,,Rare inborn errors of metabolism +GARD:0013264,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0013264,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0013264,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0013273,GARD:0022531,GARD:0022334,,Rare genetic disease +GARD:0013273,GARD:0022524,GARD:0022334,,Rare neurologic disease +GARD:0013273,GARD:0022508,GARD:0022334,,Rare inborn errors of metabolism +GARD:0013293,GARD:0022531,GARD:0016691,,Rare genetic disease +GARD:0013293,GARD:0022522,GARD:0016691,,Rare hematologic disease +GARD:0013295,GARD:0022531,GARD:0002173,GARD:0018202,Rare genetic disease +GARD:0013295,GARD:0022524,GARD:0002173,GARD:0018203,Rare neurologic disease +GARD:0013295,GARD:0022531,GARD:0002173,GARD:0018203,Rare genetic disease +GARD:0013295,GARD:0022531,GARD:0002173,GARD:0018204,Rare genetic disease +GARD:0013295,GARD:0022524,GARD:0002173,GARD:0018204,Rare neurologic disease +GARD:0013295,GARD:0022524,GARD:0002173,GARD:0018202,Rare neurologic disease +GARD:0013296,GARD:0022513,GARD:0020887,,Rare developmental defect during embryogenesis +GARD:0013296,GARD:0022531,GARD:0020887,,Rare genetic disease +GARD:0013297,GARD:0022513,GARD:0020836,,Rare developmental defect during embryogenesis +GARD:0013297,GARD:0022531,GARD:0020836,,Rare genetic disease +GARD:0013298,GARD:0022531,GARD:0017225,,Rare genetic disease +GARD:0013298,GARD:0022508,GARD:0017225,,Rare inborn errors of metabolism +GARD:0013298,GARD:0022524,GARD:0017225,,Rare neurologic disease +GARD:0013316,GARD:0022529,GARD:0021641,,Rare infertility +GARD:0013316,GARD:0022524,GARD:0021641,,Rare neurologic disease +GARD:0013316,GARD:0022531,GARD:0021641,,Rare genetic disease +GARD:0013316,GARD:0022514,GARD:0021641,,Rare gynecologic or obstetric disease +GARD:0013316,GARD:0022513,GARD:0021641,,Rare developmental defect during embryogenesis +GARD:0013316,GARD:0022521,GARD:0021641,,Rare endocrine disease +GARD:0013318,GARD:0022524,GARD:0007887,,Rare neurologic disease +GARD:0013318,GARD:0022531,GARD:0007887,,Rare genetic disease +GARD:0013318,GARD:0022531,GARD:0012919,,Rare genetic disease +GARD:0013318,GARD:0022524,GARD:0012919,,Rare neurologic disease +GARD:0013319,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0013319,GARD:0022508,GARD:0018790,,Rare inborn errors of metabolism +GARD:0013319,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0013319,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0013319,GARD:0022524,GARD:0020551,,Rare neurologic disease +GARD:0013319,GARD:0022531,GARD:0018790,,Rare genetic disease +GARD:0013319,GARD:0022531,GARD:0020551,,Rare genetic disease +GARD:0013319,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0013319,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0013319,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0013320,GARD:0022524,GARD:0013160,,Rare neurologic disease +GARD:0013320,GARD:0022511,GARD:0013160,,Rare bone disease +GARD:0013320,GARD:0022520,GARD:0013160,,Rare ophthalmic disorder +GARD:0013320,GARD:0022508,GARD:0013160,,Rare inborn errors of metabolism +GARD:0013320,GARD:0022513,GARD:0013160,,Rare developmental defect during embryogenesis +GARD:0013320,GARD:0022531,GARD:0013160,,Rare genetic disease +GARD:0013331,GARD:0022510,GARD:0020574,,Rare skin disease +GARD:0013331,GARD:0022531,GARD:0020574,,Rare genetic disease +GARD:0013337,GARD:0022536,GARD:0020932,GARD:0022004,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013337,GARD:0022536,GARD:0020932,GARD:0016700,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013337,GARD:0022536,GARD:0020932,GARD:0008609,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013337,GARD:0022517,GARD:0020932,GARD:0001620,Rare respiratory disease +GARD:0013337,GARD:0022536,GARD:0020932,GARD:0018942,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013337,GARD:0022517,GARD:0020932,GARD:0008609,Rare respiratory disease +GARD:0013337,GARD:0022536,GARD:0020932,GARD:0019167,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013337,GARD:0022517,GARD:0020932,GARD:0022004,Rare respiratory disease +GARD:0013337,GARD:0022517,GARD:0020932,GARD:0016864,Rare respiratory disease +GARD:0013337,GARD:0022536,GARD:0020932,GARD:0021238,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013337,GARD:0022517,GARD:0020932,GARD:0018942,Rare respiratory disease +GARD:0013337,GARD:0022517,GARD:0020932,GARD:0012835,Rare respiratory disease +GARD:0013337,GARD:0022536,GARD:0020932,GARD:0016864,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013337,GARD:0022536,GARD:0020932,GARD:0001620,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013337,GARD:0022517,GARD:0020932,GARD:0016700,Rare respiratory disease +GARD:0013337,GARD:0022517,GARD:0020932,GARD:0021238,Rare respiratory disease +GARD:0013337,GARD:0022517,GARD:0020932,GARD:0019167,Rare respiratory disease +GARD:0013337,GARD:0022536,GARD:0020932,GARD:0012835,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013339,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0013339,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013339,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0013349,GARD:0022531,GARD:0019274,,Rare genetic disease +GARD:0013349,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0013349,GARD:0022521,GARD:0019274,,Rare endocrine disease +GARD:0013349,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0013349,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0013354,GARD:0022531,GARD:0022154,,Rare genetic disease +GARD:0013354,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0013354,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0013354,GARD:0022520,GARD:0022112,,Rare ophthalmic disorder +GARD:0013354,GARD:0022513,GARD:0022112,,Rare developmental defect during embryogenesis +GARD:0013371,GARD:0022525,GARD:0021457,,Rare systemic or rheumatologic disease +GARD:0013376,GARD:0022531,GARD:0015024,,Rare genetic disease +GARD:0013376,GARD:0022511,GARD:0015024,,Rare bone disease +GARD:0013376,GARD:0022513,GARD:0015024,,Rare developmental defect during embryogenesis +GARD:0013378,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0013378,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0013379,GARD:0022524,GARD:0017724,,Rare neurologic disease +GARD:0013379,GARD:0022531,GARD:0017724,,Rare genetic disease +GARD:0013379,GARD:0022513,GARD:0017724,,Rare developmental defect during embryogenesis +GARD:0013388,GARD:0022513,GARD:0019906,GARD:0018038,Rare developmental defect during embryogenesis +GARD:0013388,GARD:0022521,GARD:0020214,GARD:0010937,Rare endocrine disease +GARD:0013388,GARD:0022521,GARD:0020214,GARD:0010212,Rare endocrine disease +GARD:0013388,GARD:0022521,GARD:0012597,GARD:0013389,Rare endocrine disease +GARD:0013388,GARD:0022531,GARD:0012597,GARD:0010937,Rare genetic disease +GARD:0013388,GARD:0022531,GARD:0021543,GARD:0010937,Rare genetic disease +GARD:0013388,GARD:0022510,GARD:0012597,GARD:0013389,Rare skin disease +GARD:0013388,GARD:0022531,GARD:0012597,GARD:0013389,Rare genetic disease +GARD:0013388,GARD:0022531,GARD:0020214,GARD:0018038,Rare genetic disease +GARD:0013388,GARD:0022521,GARD:0012597,GARD:0010937,Rare endocrine disease +GARD:0013388,GARD:0022524,GARD:0019832,GARD:0010212,Rare neurologic disease +GARD:0013388,GARD:0022531,GARD:0020214,GARD:0010212,Rare genetic disease +GARD:0013388,GARD:0022531,GARD:0021543,GARD:0018038,Rare genetic disease +GARD:0013388,GARD:0022521,GARD:0020214,GARD:0013389,Rare endocrine disease +GARD:0013388,GARD:0022531,GARD:0020214,GARD:0000084,Rare genetic disease +GARD:0013388,GARD:0022531,GARD:0022441,GARD:0000084,Rare genetic disease +GARD:0013388,GARD:0022510,GARD:0012597,GARD:0018038,Rare skin disease +GARD:0013388,GARD:0022531,GARD:0012597,GARD:0000084,Rare genetic disease +GARD:0013388,GARD:0022513,GARD:0019832,GARD:0018038,Rare developmental defect during embryogenesis +GARD:0013388,GARD:0022531,GARD:0021543,GARD:0000084,Rare genetic disease +GARD:0013388,GARD:0022521,GARD:0020214,GARD:0000084,Rare endocrine disease +GARD:0013388,GARD:0022524,GARD:0019832,GARD:0010937,Rare neurologic disease +GARD:0013388,GARD:0022510,GARD:0012597,GARD:0010937,Rare skin disease +GARD:0013388,GARD:0022531,GARD:0021543,GARD:0010212,Rare genetic disease +GARD:0013388,GARD:0022521,GARD:0012597,GARD:0000084,Rare endocrine disease +GARD:0013388,GARD:0022531,GARD:0020214,GARD:0010937,Rare genetic disease +GARD:0013388,GARD:0022524,GARD:0019832,GARD:0018038,Rare neurologic disease +GARD:0013388,GARD:0022531,GARD:0012597,GARD:0010212,Rare genetic disease +GARD:0013388,GARD:0022521,GARD:0020214,GARD:0018038,Rare endocrine disease +GARD:0013388,GARD:0022531,GARD:0020214,GARD:0013389,Rare genetic disease +GARD:0013388,GARD:0022513,GARD:0019832,GARD:0000084,Rare developmental defect during embryogenesis +GARD:0013388,GARD:0022513,GARD:0019832,GARD:0010937,Rare developmental defect during embryogenesis +GARD:0013388,GARD:0022531,GARD:0022441,GARD:0010212,Rare genetic disease +GARD:0013388,GARD:0022531,GARD:0022441,GARD:0018038,Rare genetic disease +GARD:0013388,GARD:0022513,GARD:0019832,GARD:0013389,Rare developmental defect during embryogenesis +GARD:0013388,GARD:0022531,GARD:0022441,GARD:0010937,Rare genetic disease +GARD:0013388,GARD:0022513,GARD:0019906,GARD:0010937,Rare developmental defect during embryogenesis +GARD:0013388,GARD:0022524,GARD:0019832,GARD:0000084,Rare neurologic disease +GARD:0013388,GARD:0022510,GARD:0012597,GARD:0010212,Rare skin disease +GARD:0013388,GARD:0022531,GARD:0021543,GARD:0013389,Rare genetic disease +GARD:0013388,GARD:0022524,GARD:0019832,GARD:0013389,Rare neurologic disease +GARD:0013388,GARD:0022513,GARD:0019832,GARD:0010212,Rare developmental defect during embryogenesis +GARD:0013388,GARD:0022513,GARD:0019906,GARD:0010212,Rare developmental defect during embryogenesis +GARD:0013388,GARD:0022510,GARD:0012597,GARD:0000084,Rare skin disease +GARD:0013388,GARD:0022521,GARD:0012597,GARD:0018038,Rare endocrine disease +GARD:0013388,GARD:0022531,GARD:0012597,GARD:0018038,Rare genetic disease +GARD:0013388,GARD:0022513,GARD:0019906,GARD:0013389,Rare developmental defect during embryogenesis +GARD:0013388,GARD:0022513,GARD:0019906,GARD:0000084,Rare developmental defect during embryogenesis +GARD:0013388,GARD:0022521,GARD:0012597,GARD:0010212,Rare endocrine disease +GARD:0013388,GARD:0022531,GARD:0022441,GARD:0013389,Rare genetic disease +GARD:0013389,GARD:0022510,GARD:0013388,,Rare skin disease +GARD:0013389,GARD:0022513,GARD:0013388,,Rare developmental defect during embryogenesis +GARD:0013389,GARD:0022524,GARD:0013388,,Rare neurologic disease +GARD:0013389,GARD:0022521,GARD:0013388,,Rare endocrine disease +GARD:0013389,GARD:0022531,GARD:0013388,,Rare genetic disease +GARD:0013390,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013390,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0013390,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013390,GARD:0022513,GARD:0020800,,Rare developmental defect during embryogenesis +GARD:0013390,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0013390,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0013390,GARD:0022531,GARD:0020800,,Rare genetic disease +GARD:0013390,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013390,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013391,GARD:0022531,GARD:0020807,,Rare genetic disease +GARD:0013391,GARD:0022513,GARD:0020807,,Rare developmental defect during embryogenesis +GARD:0013409,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0013409,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0013418,GARD:0022531,GARD:0017785,,Rare genetic disease +GARD:0013418,GARD:0022524,GARD:0017785,,Rare neurologic disease +GARD:0013418,GARD:0022519,GARD:0017785,,Rare surgical cardiac disease +GARD:0013418,GARD:0022511,GARD:0017785,,Rare bone disease +GARD:0013418,GARD:0022513,GARD:0017785,,Rare developmental defect during embryogenesis +GARD:0013423,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0013423,GARD:0022524,GARD:0020559,,Rare neurologic disease +GARD:0013423,GARD:0022531,GARD:0020559,,Rare genetic disease +GARD:0013423,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0013423,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0013423,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0013423,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0013423,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0013425,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0013425,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0013425,GARD:0022508,GARD:0018815,,Rare inborn errors of metabolism +GARD:0013425,GARD:0022531,GARD:0018815,,Rare genetic disease +GARD:0013425,GARD:0022524,GARD:0018815,,Rare neurologic disease +GARD:0013431,GARD:0022524,GARD:0019832,GARD:0017222,Rare neurologic disease +GARD:0013431,GARD:0022531,GARD:0022441,GARD:0016848,Rare genetic disease +GARD:0013431,GARD:0022531,GARD:0022441,GARD:0017220,Rare genetic disease +GARD:0013431,GARD:0022521,GARD:0020650,GARD:0017222,Rare endocrine disease +GARD:0013431,GARD:0022521,GARD:0020650,GARD:0016848,Rare endocrine disease +GARD:0013431,GARD:0022513,GARD:0020650,GARD:0016848,Rare developmental defect during embryogenesis +GARD:0013431,GARD:0022521,GARD:0020650,GARD:0017220,Rare endocrine disease +GARD:0013431,GARD:0022531,GARD:0020650,GARD:0017220,Rare genetic disease +GARD:0013431,GARD:0022531,GARD:0020650,GARD:0017222,Rare genetic disease +GARD:0013431,GARD:0022513,GARD:0019832,GARD:0016848,Rare developmental defect during embryogenesis +GARD:0013431,GARD:0022524,GARD:0019832,GARD:0017220,Rare neurologic disease +GARD:0013431,GARD:0022513,GARD:0020650,GARD:0017222,Rare developmental defect during embryogenesis +GARD:0013431,GARD:0022531,GARD:0020650,GARD:0016848,Rare genetic disease +GARD:0013431,GARD:0022531,GARD:0022441,GARD:0017222,Rare genetic disease +GARD:0013431,GARD:0022513,GARD:0020650,GARD:0017220,Rare developmental defect during embryogenesis +GARD:0013431,GARD:0022513,GARD:0019832,GARD:0017220,Rare developmental defect during embryogenesis +GARD:0013431,GARD:0022513,GARD:0019832,GARD:0017222,Rare developmental defect during embryogenesis +GARD:0013431,GARD:0022524,GARD:0019832,GARD:0016848,Rare neurologic disease +GARD:0013446,GARD:0022524,GARD:0020419,GARD:0019740,Rare neurologic disease +GARD:0013446,GARD:0022522,GARD:0019440,GARD:0019739,Rare hematologic disease +GARD:0013446,GARD:0022535,GARD:0019440,GARD:0019739,Rare neoplastic disease +GARD:0013446,GARD:0022524,GARD:0020419,GARD:0019739,Rare neurologic disease +GARD:0013446,GARD:0022522,GARD:0019440,GARD:0019740,Rare hematologic disease +GARD:0013446,GARD:0022535,GARD:0019440,GARD:0019740,Rare neoplastic disease +GARD:0013446,GARD:0022536,GARD:0019440,GARD:0019740,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013446,GARD:0022536,GARD:0019440,GARD:0019739,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013447,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0013447,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0013447,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0013451,GARD:0022527,GARD:0020458,,Rare circulatory system disease +GARD:0013451,GARD:0022513,GARD:0020458,,Rare developmental defect during embryogenesis +GARD:0013451,GARD:0022535,GARD:0020458,,Rare neoplastic disease +GARD:0013461,GARD:0022512,GARD:0010801,,Rare renal disease +GARD:0013461,GARD:0022536,GARD:0010801,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013461,GARD:0022531,GARD:0010801,,Rare genetic disease +GARD:0013472,GARD:0022531,GARD:0021355,,Rare genetic disease +GARD:0013472,GARD:0022508,GARD:0021355,,Rare inborn errors of metabolism +GARD:0013472,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0013472,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0013474,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0013474,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0013488,GARD:0022508,GARD:0012679,,Rare inborn errors of metabolism +GARD:0013488,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0013488,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0013488,GARD:0022531,GARD:0021628,,Rare genetic disease +GARD:0013488,GARD:0022531,GARD:0012679,,Rare genetic disease +GARD:0013488,GARD:0022524,GARD:0021628,,Rare neurologic disease +GARD:0013488,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0013488,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0013488,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0013488,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0013489,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0013489,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0013489,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0013489,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013489,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013489,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013519,GARD:0022524,GARD:0017559,,Rare neurologic disease +GARD:0013519,GARD:0022531,GARD:0017559,,Rare genetic disease +GARD:0013524,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0013524,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0013524,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0013524,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0013527,GARD:0022531,GARD:0022441,GARD:0020947,Rare genetic disease +GARD:0013527,GARD:0022531,GARD:0022441,GARD:0021926,Rare genetic disease +GARD:0013527,GARD:0022513,GARD:0019832,GARD:0021926,Rare developmental defect during embryogenesis +GARD:0013527,GARD:0022513,GARD:0019832,GARD:0020947,Rare developmental defect during embryogenesis +GARD:0013527,GARD:0022524,GARD:0019832,GARD:0021926,Rare neurologic disease +GARD:0013527,GARD:0022524,GARD:0019832,GARD:0020947,Rare neurologic disease +GARD:0013539,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0013539,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0013565,GARD:0022521,GARD:0019800,,Rare endocrine disease +GARD:0013565,GARD:0022531,GARD:0020317,,Rare genetic disease +GARD:0013565,GARD:0022536,GARD:0022148,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013565,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0013565,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0013565,GARD:0022516,GARD:0022148,,Rare gastroenterologic disease +GARD:0013565,GARD:0022531,GARD:0022148,,Rare genetic disease +GARD:0013565,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013568,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0013568,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0013568,GARD:0022531,GARD:0019929,,Rare genetic disease +GARD:0013568,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0013568,GARD:0022524,GARD:0019929,,Rare neurologic disease +GARD:0013568,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0013571,GARD:0022508,GARD:0021231,,Rare inborn errors of metabolism +GARD:0013571,GARD:0022531,GARD:0021231,,Rare genetic disease +GARD:0013587,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0013587,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0013587,GARD:0022531,GARD:0020278,,Rare genetic disease +GARD:0013587,GARD:0022510,GARD:0019019,,Rare skin disease +GARD:0013587,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013588,GARD:0022509,GARD:0022419,,Rare infectious disease +GARD:0013591,GARD:0022524,GARD:0022141,,Rare neurologic disease +GARD:0013591,GARD:0022531,GARD:0022140,,Rare genetic disease +GARD:0013592,GARD:0022523,GARD:0019809,GARD:0021834,Rare immune disease +GARD:0013592,GARD:0022531,GARD:0019809,GARD:0003981,Rare genetic disease +GARD:0013592,GARD:0022536,GARD:0019809,GARD:0021834,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013592,GARD:0022523,GARD:0019809,GARD:0003981,Rare immune disease +GARD:0013592,GARD:0022531,GARD:0019809,GARD:0021834,Rare genetic disease +GARD:0013592,GARD:0022531,GARD:0019809,GARD:0009558,Rare genetic disease +GARD:0013592,GARD:0022536,GARD:0019809,GARD:0003981,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013592,GARD:0022523,GARD:0019809,GARD:0009558,Rare immune disease +GARD:0013592,GARD:0022536,GARD:0019809,GARD:0009558,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013593,GARD:0022524,GARD:0020728,,Rare neurologic disease +GARD:0013593,GARD:0022535,GARD:0020728,,Rare neoplastic disease +GARD:0013594,GARD:0022531,GARD:0018950,,Rare genetic disease +GARD:0013594,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0013594,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0013594,GARD:0022508,GARD:0018950,,Rare inborn errors of metabolism +GARD:0013594,GARD:0022531,GARD:0021628,,Rare genetic disease +GARD:0013594,GARD:0022524,GARD:0021628,,Rare neurologic disease +GARD:0013606,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0013613,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0013621,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0013621,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0013621,GARD:0022531,GARD:0018967,,Rare genetic disease +GARD:0013621,GARD:0022508,GARD:0018967,,Rare inborn errors of metabolism +GARD:0013629,GARD:0022510,GARD:0021171,,Rare skin disease +GARD:0013636,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013636,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013636,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013638,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0013638,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0013638,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013638,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013638,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013639,GARD:0022531,GARD:0021992,,Rare genetic disease +GARD:0013639,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0013639,GARD:0022514,GARD:0019294,,Rare gynecologic or obstetric disease +GARD:0013639,GARD:0022521,GARD:0019294,,Rare endocrine disease +GARD:0013639,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0013639,GARD:0022531,GARD:0021693,,Rare genetic disease +GARD:0013639,GARD:0022508,GARD:0002424,,Rare inborn errors of metabolism +GARD:0013639,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0013639,GARD:0022531,GARD:0002424,,Rare genetic disease +GARD:0013639,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013639,GARD:0022520,GARD:0002424,,Rare ophthalmic disorder +GARD:0013639,GARD:0022529,GARD:0021682,,Rare infertility +GARD:0013639,GARD:0022512,GARD:0002424,,Rare renal disease +GARD:0013639,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0013641,GARD:0022531,GARD:0021614,GARD:0018314,Rare genetic disease +GARD:0013641,GARD:0022531,GARD:0021614,GARD:0018313,Rare genetic disease +GARD:0013641,GARD:0022527,GARD:0020462,GARD:0018313,Rare circulatory system disease +GARD:0013641,GARD:0022524,GARD:0019819,GARD:0018314,Rare neurologic disease +GARD:0013641,GARD:0022513,GARD:0020462,GARD:0018313,Rare developmental defect during embryogenesis +GARD:0013641,GARD:0022531,GARD:0021924,GARD:0018313,Rare genetic disease +GARD:0013641,GARD:0022531,GARD:0021924,GARD:0018314,Rare genetic disease +GARD:0013641,GARD:0022513,GARD:0020462,GARD:0018314,Rare developmental defect during embryogenesis +GARD:0013641,GARD:0022524,GARD:0019819,GARD:0018313,Rare neurologic disease +GARD:0013641,GARD:0022527,GARD:0020462,GARD:0018314,Rare circulatory system disease +GARD:0013643,GARD:0022531,GARD:0019850,GARD:0017228,Rare genetic disease +GARD:0013643,GARD:0022531,GARD:0021520,GARD:0017225,Rare genetic disease +GARD:0013643,GARD:0022508,GARD:0021520,GARD:0017409,Rare inborn errors of metabolism +GARD:0013643,GARD:0022531,GARD:0019850,GARD:0017409,Rare genetic disease +GARD:0013643,GARD:0022508,GARD:0021520,GARD:0020769,Rare inborn errors of metabolism +GARD:0013643,GARD:0022508,GARD:0021520,GARD:0017225,Rare inborn errors of metabolism +GARD:0013643,GARD:0022531,GARD:0021520,GARD:0020769,Rare genetic disease +GARD:0013643,GARD:0022531,GARD:0021520,GARD:0017409,Rare genetic disease +GARD:0013643,GARD:0022508,GARD:0021520,GARD:0017228,Rare inborn errors of metabolism +GARD:0013643,GARD:0022531,GARD:0019850,GARD:0020769,Rare genetic disease +GARD:0013643,GARD:0022531,GARD:0019850,GARD:0017225,Rare genetic disease +GARD:0013643,GARD:0022531,GARD:0021520,GARD:0017228,Rare genetic disease +GARD:0013644,GARD:0022506,GARD:0020769,,Rare hepatic disease +GARD:0013644,GARD:0022508,GARD:0018965,,Rare inborn errors of metabolism +GARD:0013644,GARD:0022531,GARD:0018965,,Rare genetic disease +GARD:0013644,GARD:0022508,GARD:0020769,,Rare inborn errors of metabolism +GARD:0013644,GARD:0022531,GARD:0020769,,Rare genetic disease +GARD:0013655,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013655,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0013655,GARD:0022507,GARD:0010692,,Rare maxillo-facial surgical disease +GARD:0013655,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0013655,GARD:0022511,GARD:0010692,,Rare bone disease +GARD:0013655,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013655,GARD:0022531,GARD:0010692,,Rare genetic disease +GARD:0013655,GARD:0022528,GARD:0010692,,Rare otorhinolaryngologic disease +GARD:0013655,GARD:0022513,GARD:0010692,,Rare developmental defect during embryogenesis +GARD:0013655,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013655,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0013658,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0013658,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0013658,GARD:0022531,GARD:0021285,,Rare genetic disease +GARD:0013658,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0013658,GARD:0022524,GARD:0021267,,Rare neurologic disease +GARD:0013658,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0013661,GARD:0022524,GARD:0016536,,Rare neurologic disease +GARD:0013661,GARD:0022531,GARD:0016536,,Rare genetic disease +GARD:0013663,GARD:0022515,GARD:0019785,GARD:0018284,Rare cardiac disease +GARD:0013663,GARD:0022515,GARD:0019785,GARD:0004880,Rare cardiac disease +GARD:0013663,GARD:0022531,GARD:0019785,GARD:0018284,Rare genetic disease +GARD:0013663,GARD:0022531,GARD:0019785,GARD:0004880,Rare genetic disease +GARD:0013663,GARD:0022531,GARD:0019785,GARD:0018285,Rare genetic disease +GARD:0013663,GARD:0022515,GARD:0019785,GARD:0018285,Rare cardiac disease +GARD:0013676,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0013676,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0013686,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0013686,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0013701,GARD:0022536,GARD:0020164,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013701,GARD:0022535,GARD:0020164,,Rare neoplastic disease +GARD:0013701,GARD:0022522,GARD:0020164,,Rare hematologic disease +GARD:0013701,GARD:0022510,GARD:0020164,,Rare skin disease +GARD:0013708,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0013708,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0013708,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0013708,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0013712,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013712,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0013712,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0013731,GARD:0022535,GARD:0020133,,Rare neoplastic disease +GARD:0013731,GARD:0022522,GARD:0020133,,Rare hematologic disease +GARD:0013731,GARD:0022536,GARD:0020133,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013737,GARD:0022531,GARD:0010999,,Rare genetic disease +GARD:0013737,GARD:0022524,GARD:0010999,,Rare neurologic disease +GARD:0013743,GARD:0022531,GARD:0017610,,Rare genetic disease +GARD:0013743,GARD:0022513,GARD:0017610,,Rare developmental defect during embryogenesis +GARD:0013743,GARD:0022511,GARD:0017610,,Rare bone disease +GARD:0013774,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013774,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013774,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013781,GARD:0022508,GARD:0018965,,Rare inborn errors of metabolism +GARD:0013781,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013781,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013781,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013781,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0013781,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0013781,GARD:0022531,GARD:0018965,,Rare genetic disease +GARD:0013789,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013789,GARD:0022531,GARD:0022021,,Rare genetic disease +GARD:0013789,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013789,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0013789,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0013789,GARD:0022513,GARD:0022021,,Rare developmental defect during embryogenesis +GARD:0013789,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013789,GARD:0022511,GARD:0022021,,Rare bone disease +GARD:0013806,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013806,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013806,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013809,GARD:0022531,GARD:0022105,,Rare genetic disease +GARD:0013809,GARD:0022520,GARD:0022105,,Rare ophthalmic disorder +GARD:0013811,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0013811,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0013811,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0013811,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0013811,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0013818,GARD:0022508,GARD:0021516,,Rare inborn errors of metabolism +GARD:0013818,GARD:0022521,GARD:0022385,,Rare endocrine disease +GARD:0013818,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0013818,GARD:0022531,GARD:0021516,,Rare genetic disease +GARD:0013818,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0013818,GARD:0022531,GARD:0022385,,Rare genetic disease +GARD:0013818,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0013824,GARD:0021079,GARD:0021986,GARD:0003916,Rare systemic or rheumatological disease of childhood +GARD:0013824,GARD:0022531,GARD:0012597,GARD:0018446,Rare genetic disease +GARD:0013824,GARD:0022510,GARD:0012597,GARD:0018447,Rare skin disease +GARD:0013824,GARD:0022531,GARD:0012597,GARD:0018447,Rare genetic disease +GARD:0013824,GARD:0022510,GARD:0021162,GARD:0018449,Rare skin disease +GARD:0013824,GARD:0022510,GARD:0012597,GARD:0018448,Rare skin disease +GARD:0013824,GARD:0022531,GARD:0012597,GARD:0018449,Rare genetic disease +GARD:0013824,GARD:0022521,GARD:0012597,GARD:0018449,Rare endocrine disease +GARD:0013824,GARD:0022510,GARD:0012597,GARD:0018449,Rare skin disease +GARD:0013824,GARD:0022510,GARD:0021162,GARD:0018446,Rare skin disease +GARD:0013824,GARD:0022525,GARD:0021957,GARD:0018448,Rare systemic or rheumatologic disease +GARD:0013824,GARD:0022531,GARD:0022488,GARD:0018448,Rare genetic disease +GARD:0013824,GARD:0022510,GARD:0021162,GARD:0018447,Rare skin disease +GARD:0013824,GARD:0022531,GARD:0021957,GARD:0018446,Rare genetic disease +GARD:0013824,GARD:0022510,GARD:0012597,GARD:0018446,Rare skin disease +GARD:0013824,GARD:0022521,GARD:0012597,GARD:0003916,Rare endocrine disease +GARD:0013824,GARD:0022521,GARD:0012597,GARD:0018448,Rare endocrine disease +GARD:0013824,GARD:0022531,GARD:0021957,GARD:0018447,Rare genetic disease +GARD:0013824,GARD:0022510,GARD:0012597,GARD:0003916,Rare skin disease +GARD:0013824,GARD:0022525,GARD:0021957,GARD:0018449,Rare systemic or rheumatologic disease +GARD:0013824,GARD:0022531,GARD:0012597,GARD:0018448,Rare genetic disease +GARD:0013824,GARD:0022531,GARD:0021957,GARD:0003916,Rare genetic disease +GARD:0013824,GARD:0022531,GARD:0022488,GARD:0018446,Rare genetic disease +GARD:0013824,GARD:0021079,GARD:0021986,GARD:0018447,Rare systemic or rheumatological disease of childhood +GARD:0013824,GARD:0022510,GARD:0021162,GARD:0018448,Rare skin disease +GARD:0013824,GARD:0022525,GARD:0021957,GARD:0003916,Rare systemic or rheumatologic disease +GARD:0013824,GARD:0022531,GARD:0022488,GARD:0018449,Rare genetic disease +GARD:0013824,GARD:0022531,GARD:0021957,GARD:0018448,Rare genetic disease +GARD:0013824,GARD:0022531,GARD:0012597,GARD:0003916,Rare genetic disease +GARD:0013824,GARD:0022510,GARD:0021162,GARD:0003916,Rare skin disease +GARD:0013824,GARD:0022531,GARD:0022488,GARD:0018447,Rare genetic disease +GARD:0013824,GARD:0022521,GARD:0012597,GARD:0018447,Rare endocrine disease +GARD:0013824,GARD:0021079,GARD:0021986,GARD:0018446,Rare systemic or rheumatological disease of childhood +GARD:0013824,GARD:0022531,GARD:0021957,GARD:0018449,Rare genetic disease +GARD:0013824,GARD:0022531,GARD:0022488,GARD:0003916,Rare genetic disease +GARD:0013824,GARD:0022525,GARD:0021957,GARD:0018447,Rare systemic or rheumatologic disease +GARD:0013824,GARD:0022521,GARD:0012597,GARD:0018446,Rare endocrine disease +GARD:0013824,GARD:0022525,GARD:0021957,GARD:0018446,Rare systemic or rheumatologic disease +GARD:0013824,GARD:0021079,GARD:0021986,GARD:0018449,Rare systemic or rheumatological disease of childhood +GARD:0013824,GARD:0021079,GARD:0021986,GARD:0018448,Rare systemic or rheumatological disease of childhood +GARD:0015000,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0015000,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015000,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0015000,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0015000,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0015000,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0015000,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0015000,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0015001,GARD:0022525,GARD:0019982,,Rare systemic or rheumatologic disease +GARD:0015001,GARD:0022525,GARD:0021457,,Rare systemic or rheumatologic disease +GARD:0015001,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0015001,GARD:0022527,GARD:0019982,,Rare circulatory system disease +GARD:0015003,GARD:0022516,GARD:0012331,,Rare gastroenterologic disease +GARD:0015003,GARD:0022536,GARD:0019849,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015003,GARD:0022531,GARD:0020060,,Rare genetic disease +GARD:0015003,GARD:0022516,GARD:0019849,,Rare gastroenterologic disease +GARD:0015004,GARD:0022523,GARD:0020116,,Rare immune disease +GARD:0015004,GARD:0022536,GARD:0020116,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015004,GARD:0022531,GARD:0020116,,Rare genetic disease +GARD:0015010,GARD:0022514,GARD:0020467,GARD:0015785,Rare gynecologic or obstetric disease +GARD:0015010,GARD:0022535,GARD:0020467,GARD:0015657,Rare neoplastic disease +GARD:0015010,GARD:0022531,GARD:0020467,GARD:0015785,Rare genetic disease +GARD:0015010,GARD:0022531,GARD:0020467,GARD:0012352,Rare genetic disease +GARD:0015010,GARD:0022514,GARD:0020467,GARD:0015657,Rare gynecologic or obstetric disease +GARD:0015010,GARD:0022535,GARD:0012772,GARD:0012352,Rare neoplastic disease +GARD:0015010,GARD:0022535,GARD:0020467,GARD:0012351,Rare neoplastic disease +GARD:0015010,GARD:0022531,GARD:0020323,GARD:0012352,Rare genetic disease +GARD:0015010,GARD:0022531,GARD:0020323,GARD:0015657,Rare genetic disease +GARD:0015010,GARD:0022514,GARD:0020467,GARD:0012351,Rare gynecologic or obstetric disease +GARD:0015010,GARD:0022531,GARD:0020323,GARD:0012351,Rare genetic disease +GARD:0015010,GARD:0022531,GARD:0020467,GARD:0015657,Rare genetic disease +GARD:0015010,GARD:0022535,GARD:0020467,GARD:0015785,Rare neoplastic disease +GARD:0015010,GARD:0022535,GARD:0012772,GARD:0015657,Rare neoplastic disease +GARD:0015010,GARD:0022514,GARD:0012772,GARD:0012352,Rare gynecologic or obstetric disease +GARD:0015010,GARD:0022514,GARD:0020467,GARD:0012352,Rare gynecologic or obstetric disease +GARD:0015010,GARD:0022531,GARD:0020467,GARD:0012351,Rare genetic disease +GARD:0015010,GARD:0022535,GARD:0012772,GARD:0012351,Rare neoplastic disease +GARD:0015010,GARD:0022535,GARD:0020467,GARD:0012352,Rare neoplastic disease +GARD:0015010,GARD:0022514,GARD:0012772,GARD:0012351,Rare gynecologic or obstetric disease +GARD:0015010,GARD:0022535,GARD:0012772,GARD:0015785,Rare neoplastic disease +GARD:0015010,GARD:0022531,GARD:0020323,GARD:0015785,Rare genetic disease +GARD:0015010,GARD:0022514,GARD:0012772,GARD:0015785,Rare gynecologic or obstetric disease +GARD:0015010,GARD:0022514,GARD:0012772,GARD:0015657,Rare gynecologic or obstetric disease +GARD:0015011,GARD:0022512,GARD:0001804,,Rare renal disease +GARD:0015011,GARD:0022513,GARD:0001804,,Rare developmental defect during embryogenesis +GARD:0015011,GARD:0022521,GARD:0001804,,Rare endocrine disease +GARD:0015011,GARD:0022511,GARD:0001804,,Rare bone disease +GARD:0015011,GARD:0022536,GARD:0001804,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015011,GARD:0022531,GARD:0001804,,Rare genetic disease +GARD:0015012,GARD:0022511,GARD:0004155,GARD:0005993,Rare bone disease +GARD:0015012,GARD:0022536,GARD:0004155,GARD:0002579,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015012,GARD:0022520,GARD:0022113,GARD:0002579,Rare ophthalmic disorder +GARD:0015012,GARD:0022511,GARD:0004155,GARD:0002579,Rare bone disease +GARD:0015012,GARD:0022531,GARD:0022113,GARD:0015905,Rare genetic disease +GARD:0015012,GARD:0022531,GARD:0022113,GARD:0005993,Rare genetic disease +GARD:0015012,GARD:0022531,GARD:0004155,GARD:0004157,Rare genetic disease +GARD:0015012,GARD:0022513,GARD:0004155,GARD:0002579,Rare developmental defect during embryogenesis +GARD:0015012,GARD:0022531,GARD:0004155,GARD:0015905,Rare genetic disease +GARD:0015012,GARD:0022520,GARD:0022113,GARD:0015905,Rare ophthalmic disorder +GARD:0015012,GARD:0022536,GARD:0004155,GARD:0015905,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015012,GARD:0022531,GARD:0004155,GARD:0002579,Rare genetic disease +GARD:0015012,GARD:0022531,GARD:0022113,GARD:0004157,Rare genetic disease +GARD:0015012,GARD:0022511,GARD:0004155,GARD:0015905,Rare bone disease +GARD:0015012,GARD:0022513,GARD:0004155,GARD:0005993,Rare developmental defect during embryogenesis +GARD:0015012,GARD:0022511,GARD:0004155,GARD:0004157,Rare bone disease +GARD:0015012,GARD:0022520,GARD:0022113,GARD:0005993,Rare ophthalmic disorder +GARD:0015012,GARD:0022513,GARD:0004155,GARD:0004157,Rare developmental defect during embryogenesis +GARD:0015012,GARD:0022536,GARD:0004155,GARD:0005993,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015012,GARD:0022520,GARD:0022113,GARD:0004157,Rare ophthalmic disorder +GARD:0015012,GARD:0022513,GARD:0004155,GARD:0015905,Rare developmental defect during embryogenesis +GARD:0015012,GARD:0022536,GARD:0004155,GARD:0004157,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015012,GARD:0022531,GARD:0004155,GARD:0005993,Rare genetic disease +GARD:0015012,GARD:0022531,GARD:0022113,GARD:0002579,Rare genetic disease +GARD:0015013,GARD:0022531,GARD:0020294,GARD:0001581,Rare genetic disease +GARD:0015013,GARD:0022531,GARD:0020294,GARD:0001582,Rare genetic disease +GARD:0015013,GARD:0022513,GARD:0019200,GARD:0001582,Rare developmental defect during embryogenesis +GARD:0015013,GARD:0022513,GARD:0019390,GARD:0001582,Rare developmental defect during embryogenesis +GARD:0015013,GARD:0022531,GARD:0019200,GARD:0001582,Rare genetic disease +GARD:0015013,GARD:0022513,GARD:0019390,GARD:0001581,Rare developmental defect during embryogenesis +GARD:0015013,GARD:0022513,GARD:0019200,GARD:0001581,Rare developmental defect during embryogenesis +GARD:0015013,GARD:0022511,GARD:0019200,GARD:0001582,Rare bone disease +GARD:0015013,GARD:0022531,GARD:0019200,GARD:0001581,Rare genetic disease +GARD:0015013,GARD:0022511,GARD:0019200,GARD:0001581,Rare bone disease +GARD:0015014,GARD:0022535,GARD:0004898,GARD:0002627,Rare neoplastic disease +GARD:0015015,GARD:0022520,GARD:0019537,GARD:0016129,Rare ophthalmic disorder +GARD:0015015,GARD:0022520,GARD:0022105,GARD:0015723,Rare ophthalmic disorder +GARD:0015015,GARD:0022531,GARD:0022105,GARD:0015723,Rare genetic disease +GARD:0015015,GARD:0022531,GARD:0019537,GARD:0016129,Rare genetic disease +GARD:0015015,GARD:0022520,GARD:0019537,GARD:0015723,Rare ophthalmic disorder +GARD:0015015,GARD:0022520,GARD:0019537,GARD:0009649,Rare ophthalmic disorder +GARD:0015015,GARD:0022520,GARD:0022105,GARD:0016129,Rare ophthalmic disorder +GARD:0015015,GARD:0022531,GARD:0022105,GARD:0009649,Rare genetic disease +GARD:0015015,GARD:0022531,GARD:0022105,GARD:0009650,Rare genetic disease +GARD:0015015,GARD:0022520,GARD:0019537,GARD:0010648,Rare ophthalmic disorder +GARD:0015015,GARD:0022531,GARD:0022105,GARD:0010648,Rare genetic disease +GARD:0015015,GARD:0022520,GARD:0022105,GARD:0009649,Rare ophthalmic disorder +GARD:0015015,GARD:0022520,GARD:0022105,GARD:0009650,Rare ophthalmic disorder +GARD:0015015,GARD:0022531,GARD:0019537,GARD:0015723,Rare genetic disease +GARD:0015015,GARD:0022520,GARD:0022105,GARD:0010648,Rare ophthalmic disorder +GARD:0015015,GARD:0022531,GARD:0019537,GARD:0009650,Rare genetic disease +GARD:0015015,GARD:0022531,GARD:0019537,GARD:0009649,Rare genetic disease +GARD:0015015,GARD:0022531,GARD:0019537,GARD:0010648,Rare genetic disease +GARD:0015015,GARD:0022531,GARD:0022105,GARD:0016129,Rare genetic disease +GARD:0015015,GARD:0022520,GARD:0019537,GARD:0009650,Rare ophthalmic disorder +GARD:0015016,GARD:0022510,GARD:0021295,GARD:0009173,Rare skin disease +GARD:0015016,GARD:0022510,GARD:0021295,GARD:0009172,Rare skin disease +GARD:0015016,GARD:0022531,GARD:0021295,GARD:0015590,Rare genetic disease +GARD:0015016,GARD:0022531,GARD:0021295,GARD:0009173,Rare genetic disease +GARD:0015016,GARD:0022510,GARD:0021295,GARD:0015590,Rare skin disease +GARD:0015016,GARD:0022531,GARD:0021295,GARD:0009172,Rare genetic disease +GARD:0015017,GARD:0022511,GARD:0021451,GARD:0007802,Rare bone disease +GARD:0015017,GARD:0022510,GARD:0021451,GARD:0007802,Rare skin disease +GARD:0015017,GARD:0022531,GARD:0021451,GARD:0007800,Rare genetic disease +GARD:0015017,GARD:0022513,GARD:0021451,GARD:0007800,Rare developmental defect during embryogenesis +GARD:0015017,GARD:0022513,GARD:0021451,GARD:0007802,Rare developmental defect during embryogenesis +GARD:0015017,GARD:0022511,GARD:0021451,GARD:0007800,Rare bone disease +GARD:0015017,GARD:0022531,GARD:0021451,GARD:0007802,Rare genetic disease +GARD:0015017,GARD:0022510,GARD:0021451,GARD:0007800,Rare skin disease +GARD:0015018,GARD:0022531,GARD:0021016,GARD:0010697,Rare genetic disease +GARD:0015018,GARD:0022519,GARD:0019558,GARD:0005865,Rare surgical cardiac disease +GARD:0015018,GARD:0022531,GARD:0021016,GARD:0010695,Rare genetic disease +GARD:0015018,GARD:0022513,GARD:0019558,GARD:0005865,Rare developmental defect during embryogenesis +GARD:0015018,GARD:0022519,GARD:0019558,GARD:0010697,Rare surgical cardiac disease +GARD:0015018,GARD:0022513,GARD:0019558,GARD:0010696,Rare developmental defect during embryogenesis +GARD:0015018,GARD:0022513,GARD:0019558,GARD:0010697,Rare developmental defect during embryogenesis +GARD:0015018,GARD:0022531,GARD:0021016,GARD:0010696,Rare genetic disease +GARD:0015018,GARD:0022519,GARD:0019558,GARD:0010696,Rare surgical cardiac disease +GARD:0015018,GARD:0022519,GARD:0019558,GARD:0010695,Rare surgical cardiac disease +GARD:0015018,GARD:0022513,GARD:0019558,GARD:0010695,Rare developmental defect during embryogenesis +GARD:0015018,GARD:0022531,GARD:0021016,GARD:0005865,Rare genetic disease +GARD:0015019,GARD:0022531,GARD:0022290,GARD:0009268,Rare genetic disease +GARD:0015019,GARD:0022536,GARD:0022290,GARD:0009914,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015019,GARD:0022531,GARD:0022290,GARD:0009914,Rare genetic disease +GARD:0015019,GARD:0022512,GARD:0022290,GARD:0009268,Rare renal disease +GARD:0015019,GARD:0022512,GARD:0022290,GARD:0009914,Rare renal disease +GARD:0015019,GARD:0022536,GARD:0022290,GARD:0009268,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015020,GARD:0022531,GARD:0020140,GARD:0015222,Rare genetic disease +GARD:0015020,GARD:0022531,GARD:0020220,GARD:0015222,Rare genetic disease +GARD:0015020,GARD:0022514,GARD:0020220,GARD:0006737,Rare gynecologic or obstetric disease +GARD:0015020,GARD:0022521,GARD:0020140,GARD:0015222,Rare endocrine disease +GARD:0015020,GARD:0022531,GARD:0020140,GARD:0006737,Rare genetic disease +GARD:0015020,GARD:0022521,GARD:0020220,GARD:0006737,Rare endocrine disease +GARD:0015020,GARD:0022521,GARD:0020140,GARD:0006737,Rare endocrine disease +GARD:0015020,GARD:0022531,GARD:0020220,GARD:0006737,Rare genetic disease +GARD:0015020,GARD:0022529,GARD:0020220,GARD:0006737,Rare infertility +GARD:0015020,GARD:0022529,GARD:0020220,GARD:0015222,Rare infertility +GARD:0015020,GARD:0022514,GARD:0020220,GARD:0015222,Rare gynecologic or obstetric disease +GARD:0015020,GARD:0022521,GARD:0020220,GARD:0015222,Rare endocrine disease +GARD:0015021,GARD:0022513,GARD:0020461,GARD:0010189,Rare developmental defect during embryogenesis +GARD:0015021,GARD:0022531,GARD:0020273,GARD:0010189,Rare genetic disease +GARD:0015021,GARD:0022527,GARD:0020461,GARD:0010189,Rare circulatory system disease +GARD:0015021,GARD:0022531,GARD:0020273,GARD:0010188,Rare genetic disease +GARD:0015021,GARD:0022527,GARD:0020461,GARD:0010188,Rare circulatory system disease +GARD:0015021,GARD:0022510,GARD:0019008,GARD:0010189,Rare skin disease +GARD:0015021,GARD:0022513,GARD:0020461,GARD:0010188,Rare developmental defect during embryogenesis +GARD:0015021,GARD:0022510,GARD:0019008,GARD:0010188,Rare skin disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0016085,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0010108,Rare genetic disease +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0009895,Rare genetic disease +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0010108,Rare genetic disease +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0015445,Rare neurologic disease +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0015908,Rare genetic disease +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0015330,Rare genetic disease +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0010108,Rare neurologic disease +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0016088,Rare neurologic disease +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0009895,Rare neurologic disease +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0016080,Rare neurologic disease +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0016080,Rare genetic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0015908,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0016153,Rare neurologic disease +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0016087,Rare neurologic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0016084,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0015330,Rare neurologic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0016088,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0016084,Rare ophthalmic disorder +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0016089,Rare neurologic disease +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0016153,Rare ophthalmic disorder +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0016153,Rare neurologic disease +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0016085,Rare genetic disease +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0016153,Rare genetic disease +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0016080,Rare genetic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0016083,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0009895,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0015908,Rare neurologic disease +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0016083,Rare genetic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0016086,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0016085,Rare ophthalmic disorder +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0009895,Rare neurologic disease +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0015387,Rare genetic disease +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0016084,Rare genetic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0015771,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0016086,Rare neurologic disease +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0009895,Rare ophthalmic disorder +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0016087,Rare neurologic disease +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0015387,Rare neurologic disease +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0016085,Rare genetic disease +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0016083,Rare genetic disease +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0015206,Rare neurologic disease +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0016087,Rare genetic disease +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0016084,Rare neurologic disease +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0016083,Rare neurologic disease +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0016088,Rare genetic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0016089,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0016089,Rare neurologic disease +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0016086,Rare genetic disease +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0015206,Rare genetic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0015445,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0016087,Rare ophthalmic disorder +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0015771,Rare genetic disease +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0015771,Rare genetic disease +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0015445,Rare ophthalmic disorder +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0009895,Rare genetic disease +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0015908,Rare ophthalmic disorder +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0016084,Rare neurologic disease +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0016087,Rare genetic disease +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0016088,Rare neurologic disease +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0015330,Rare neurologic disease +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0016088,Rare genetic disease +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0015445,Rare genetic disease +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0016084,Rare genetic disease +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0015206,Rare ophthalmic disorder +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0016083,Rare neurologic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0016080,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0015771,Rare neurologic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0016087,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0015445,Rare neurologic disease +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0016085,Rare neurologic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0010108,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0016086,Rare neurologic disease +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0016153,Rare genetic disease +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0016088,Rare ophthalmic disorder +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0016085,Rare neurologic disease +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0015771,Rare neurologic disease +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0015387,Rare ophthalmic disorder +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0015206,Rare genetic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0016153,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0015771,Rare ophthalmic disorder +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0016086,Rare genetic disease +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0015330,Rare genetic disease +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0016083,Rare ophthalmic disorder +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0015445,Rare genetic disease +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0016089,Rare ophthalmic disorder +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0010108,Rare neurologic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0015387,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0016080,Rare ophthalmic disorder +GARD:0015022,GARD:0022531,GARD:0011902,GARD:0016089,Rare genetic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0015330,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0016080,Rare neurologic disease +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0016089,Rare genetic disease +GARD:0015022,GARD:0022513,GARD:0011902,GARD:0015206,Rare developmental defect during embryogenesis +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0016086,Rare ophthalmic disorder +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0015387,Rare neurologic disease +GARD:0015022,GARD:0022524,GARD:0011902,GARD:0015206,Rare neurologic disease +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0015330,Rare ophthalmic disorder +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0015387,Rare genetic disease +GARD:0015022,GARD:0022531,GARD:0019563,GARD:0015908,Rare genetic disease +GARD:0015022,GARD:0022520,GARD:0011902,GARD:0010108,Rare ophthalmic disorder +GARD:0015022,GARD:0022524,GARD:0019563,GARD:0015908,Rare neurologic disease +GARD:0015023,GARD:0022524,GARD:0022440,GARD:0016202,Rare neurologic disease +GARD:0015023,GARD:0022513,GARD:0011902,GARD:0016202,Rare developmental defect during embryogenesis +GARD:0015023,GARD:0022513,GARD:0011902,GARD:0016053,Rare developmental defect during embryogenesis +GARD:0015023,GARD:0022524,GARD:0011902,GARD:0016309,Rare neurologic disease +GARD:0015023,GARD:0022531,GARD:0022440,GARD:0016053,Rare genetic disease +GARD:0015023,GARD:0022531,GARD:0022440,GARD:0009689,Rare genetic disease +GARD:0015023,GARD:0022524,GARD:0011902,GARD:0016341,Rare neurologic disease +GARD:0015023,GARD:0022531,GARD:0022440,GARD:0016309,Rare genetic disease +GARD:0015023,GARD:0022524,GARD:0022440,GARD:0016091,Rare neurologic disease +GARD:0015023,GARD:0022520,GARD:0011902,GARD:0016309,Rare ophthalmic disorder +GARD:0015023,GARD:0022513,GARD:0011902,GARD:0015908,Rare developmental defect during embryogenesis +GARD:0015023,GARD:0022520,GARD:0011902,GARD:0009689,Rare ophthalmic disorder +GARD:0015023,GARD:0022524,GARD:0022440,GARD:0009689,Rare neurologic disease +GARD:0015023,GARD:0022524,GARD:0022440,GARD:0016053,Rare neurologic disease +GARD:0015023,GARD:0022531,GARD:0011902,GARD:0015908,Rare genetic disease +GARD:0015023,GARD:0022531,GARD:0011902,GARD:0016153,Rare genetic disease +GARD:0015023,GARD:0022531,GARD:0022440,GARD:0016153,Rare genetic disease +GARD:0015023,GARD:0022524,GARD:0022440,GARD:0016309,Rare neurologic disease +GARD:0015023,GARD:0022531,GARD:0011902,GARD:0016202,Rare genetic disease +GARD:0015023,GARD:0022520,GARD:0011902,GARD:0016212,Rare ophthalmic disorder +GARD:0015023,GARD:0022520,GARD:0011902,GARD:0016153,Rare ophthalmic disorder +GARD:0015023,GARD:0022531,GARD:0022440,GARD:0016341,Rare genetic disease +GARD:0015023,GARD:0022524,GARD:0011902,GARD:0016053,Rare neurologic disease +GARD:0015023,GARD:0022524,GARD:0022440,GARD:0016341,Rare neurologic disease +GARD:0015023,GARD:0022520,GARD:0011902,GARD:0016053,Rare ophthalmic disorder +GARD:0015023,GARD:0022524,GARD:0022440,GARD:0016212,Rare neurologic disease +GARD:0015023,GARD:0022520,GARD:0011902,GARD:0015908,Rare ophthalmic disorder +GARD:0015023,GARD:0022524,GARD:0011902,GARD:0016212,Rare neurologic disease +GARD:0015023,GARD:0022531,GARD:0011902,GARD:0016309,Rare genetic disease +GARD:0015023,GARD:0022520,GARD:0011902,GARD:0016091,Rare ophthalmic disorder +GARD:0015023,GARD:0022524,GARD:0011902,GARD:0016202,Rare neurologic disease +GARD:0015023,GARD:0022531,GARD:0011902,GARD:0016091,Rare genetic disease +GARD:0015023,GARD:0022531,GARD:0022440,GARD:0016202,Rare genetic disease +GARD:0015023,GARD:0022524,GARD:0011902,GARD:0015908,Rare neurologic disease +GARD:0015023,GARD:0022520,GARD:0011902,GARD:0016341,Rare ophthalmic disorder +GARD:0015023,GARD:0022513,GARD:0011902,GARD:0016153,Rare developmental defect during embryogenesis +GARD:0015023,GARD:0022524,GARD:0022440,GARD:0016153,Rare neurologic disease +GARD:0015023,GARD:0022531,GARD:0011902,GARD:0009689,Rare genetic disease +GARD:0015023,GARD:0022531,GARD:0011902,GARD:0016212,Rare genetic disease +GARD:0015023,GARD:0022531,GARD:0011902,GARD:0016308,Rare genetic disease +GARD:0015023,GARD:0022531,GARD:0011902,GARD:0016053,Rare genetic disease +GARD:0015023,GARD:0022531,GARD:0022440,GARD:0016091,Rare genetic disease +GARD:0015023,GARD:0022524,GARD:0022440,GARD:0015908,Rare neurologic disease +GARD:0015023,GARD:0022524,GARD:0011902,GARD:0016153,Rare neurologic disease +GARD:0015023,GARD:0022524,GARD:0011902,GARD:0009689,Rare neurologic disease +GARD:0015023,GARD:0022524,GARD:0011902,GARD:0016091,Rare neurologic disease +GARD:0015023,GARD:0022513,GARD:0011902,GARD:0016309,Rare developmental defect during embryogenesis +GARD:0015023,GARD:0022513,GARD:0011902,GARD:0016091,Rare developmental defect during embryogenesis +GARD:0015023,GARD:0022531,GARD:0022440,GARD:0016308,Rare genetic disease +GARD:0015023,GARD:0022513,GARD:0011902,GARD:0016308,Rare developmental defect during embryogenesis +GARD:0015023,GARD:0022524,GARD:0022440,GARD:0016308,Rare neurologic disease +GARD:0015023,GARD:0022513,GARD:0011902,GARD:0009689,Rare developmental defect during embryogenesis +GARD:0015023,GARD:0022524,GARD:0011902,GARD:0016308,Rare neurologic disease +GARD:0015023,GARD:0022520,GARD:0011902,GARD:0016202,Rare ophthalmic disorder +GARD:0015023,GARD:0022531,GARD:0022440,GARD:0016212,Rare genetic disease +GARD:0015023,GARD:0022531,GARD:0022440,GARD:0015908,Rare genetic disease +GARD:0015023,GARD:0022513,GARD:0011902,GARD:0016341,Rare developmental defect during embryogenesis +GARD:0015023,GARD:0022520,GARD:0011902,GARD:0016308,Rare ophthalmic disorder +GARD:0015023,GARD:0022531,GARD:0011902,GARD:0016341,Rare genetic disease +GARD:0015023,GARD:0022513,GARD:0011902,GARD:0016212,Rare developmental defect during embryogenesis +GARD:0015024,GARD:0022531,GARD:0010756,GARD:0013376,Rare genetic disease +GARD:0015024,GARD:0022513,GARD:0010756,GARD:0009791,Rare developmental defect during embryogenesis +GARD:0015024,GARD:0022531,GARD:0010756,GARD:0009792,Rare genetic disease +GARD:0015024,GARD:0022513,GARD:0010756,GARD:0009792,Rare developmental defect during embryogenesis +GARD:0015024,GARD:0022511,GARD:0010756,GARD:0009791,Rare bone disease +GARD:0015024,GARD:0022513,GARD:0010756,GARD:0013376,Rare developmental defect during embryogenesis +GARD:0015024,GARD:0022511,GARD:0010756,GARD:0009792,Rare bone disease +GARD:0015024,GARD:0022511,GARD:0010756,GARD:0013376,Rare bone disease +GARD:0015024,GARD:0022531,GARD:0010756,GARD:0009791,Rare genetic disease +GARD:0015025,GARD:0022531,GARD:0021919,GARD:0015155,Rare genetic disease +GARD:0015025,GARD:0022523,GARD:0021919,GARD:0012958,Rare immune disease +GARD:0015025,GARD:0022531,GARD:0021919,GARD:0015797,Rare genetic disease +GARD:0015025,GARD:0022523,GARD:0021919,GARD:0015155,Rare immune disease +GARD:0015025,GARD:0022523,GARD:0021919,GARD:0015707,Rare immune disease +GARD:0015025,GARD:0022523,GARD:0021919,GARD:0015797,Rare immune disease +GARD:0015025,GARD:0022523,GARD:0021919,GARD:0001452,Rare immune disease +GARD:0015025,GARD:0022531,GARD:0021919,GARD:0001452,Rare genetic disease +GARD:0015025,GARD:0022523,GARD:0021919,GARD:0015798,Rare immune disease +GARD:0015025,GARD:0022531,GARD:0021919,GARD:0012958,Rare genetic disease +GARD:0015025,GARD:0022531,GARD:0021919,GARD:0015798,Rare genetic disease +GARD:0015025,GARD:0022531,GARD:0021919,GARD:0015707,Rare genetic disease +GARD:0015026,GARD:0022520,GARD:0006643,GARD:0009435,Rare ophthalmic disorder +GARD:0015026,GARD:0022531,GARD:0021508,GARD:0016180,Rare genetic disease +GARD:0015026,GARD:0022508,GARD:0006643,GARD:0016180,Rare inborn errors of metabolism +GARD:0015026,GARD:0022510,GARD:0006643,GARD:0016180,Rare skin disease +GARD:0015026,GARD:0022523,GARD:0021508,GARD:0009435,Rare immune disease +GARD:0015026,GARD:0022536,GARD:0021508,GARD:0009435,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015026,GARD:0022508,GARD:0006643,GARD:0009435,Rare inborn errors of metabolism +GARD:0015026,GARD:0022536,GARD:0021515,GARD:0009435,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015026,GARD:0022520,GARD:0006643,GARD:0016180,Rare ophthalmic disorder +GARD:0015026,GARD:0022531,GARD:0021515,GARD:0009435,Rare genetic disease +GARD:0015026,GARD:0022523,GARD:0021508,GARD:0016180,Rare immune disease +GARD:0015026,GARD:0022522,GARD:0006643,GARD:0016180,Rare hematologic disease +GARD:0015026,GARD:0022536,GARD:0021515,GARD:0016180,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015026,GARD:0022510,GARD:0006643,GARD:0009435,Rare skin disease +GARD:0015026,GARD:0022531,GARD:0006643,GARD:0016180,Rare genetic disease +GARD:0015026,GARD:0022531,GARD:0021508,GARD:0009435,Rare genetic disease +GARD:0015026,GARD:0022536,GARD:0021508,GARD:0016180,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015026,GARD:0022523,GARD:0021515,GARD:0009435,Rare immune disease +GARD:0015026,GARD:0022531,GARD:0006643,GARD:0009435,Rare genetic disease +GARD:0015026,GARD:0022531,GARD:0021515,GARD:0016180,Rare genetic disease +GARD:0015026,GARD:0022523,GARD:0021515,GARD:0016180,Rare immune disease +GARD:0015026,GARD:0022522,GARD:0006643,GARD:0009435,Rare hematologic disease +GARD:0015027,GARD:0022531,GARD:0021801,GARD:0008527,Rare genetic disease +GARD:0015027,GARD:0022517,GARD:0021801,GARD:0008527,Rare respiratory disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016391,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016258,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016259,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0013524,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0012901,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016259,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016203,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016355,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016106,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0013676,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016424,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016398,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016393,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016258,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016092,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016271,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016198,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016355,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016069,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016393,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016424,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016285,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016191,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0012391,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016285,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016393,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016310,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016398,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016366,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016096,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016175,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016092,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016259,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016094,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016191,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016398,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016366,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016349,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016017,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016352,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0013085,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016198,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016096,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016310,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016355,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016258,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016366,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0012391,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0012391,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016352,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016283,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0015286,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016191,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0013085,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016283,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0015286,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016024,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016260,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016094,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016365,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016398,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0013524,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016092,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0012901,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016424,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016190,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016175,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016175,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016366,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016366,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016198,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016285,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016203,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016352,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0015282,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016069,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016190,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016424,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016198,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0015286,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016198,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0012391,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016398,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016069,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016106,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016259,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016310,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016106,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016365,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016260,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016175,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016175,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0013085,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0015282,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016271,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016203,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016191,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0013676,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0013676,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016393,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016310,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0012901,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016017,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016175,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0012391,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0013524,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016024,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0015282,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016258,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016017,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016391,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016352,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016398,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016260,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016365,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016205,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0013676,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016285,Rare genetic disease 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+GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016283,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016206,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0012901,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016261,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016424,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0013676,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016258,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016017,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016393,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016349,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016424,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016285,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016261,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016092,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0013676,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016391,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016366,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016175,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0012901,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016261,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016096,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016190,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016096,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016094,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016106,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016024,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016261,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016096,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016198,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016203,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016393,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016092,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016260,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016092,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016355,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0012391,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0015282,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016259,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016424,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016191,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0015282,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016206,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0015286,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016017,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016283,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016310,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016106,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016285,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016261,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0012901,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016393,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0015282,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0015286,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016259,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016355,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016259,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016190,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016205,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016258,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016203,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016190,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0012391,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0013085,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0013676,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016069,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016310,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016024,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016205,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016259,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016094,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016205,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0015286,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016094,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016365,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016175,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016175,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0013524,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016391,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016206,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016259,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016069,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016190,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0015282,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0013085,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016096,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0013085,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016106,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016258,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016365,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016349,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016206,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016352,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016094,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016017,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016271,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016355,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016106,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016271,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016203,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016190,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016260,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016366,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016206,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016096,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016017,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016258,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016283,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016191,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016205,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016094,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016206,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016393,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016391,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016024,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016271,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016349,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016024,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016203,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016391,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016203,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016352,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016024,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016260,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016271,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016391,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016205,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016069,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0013676,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019436,GARD:0016198,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016258,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0015282,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016283,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0012391,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016259,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016349,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016198,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016198,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016260,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016352,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016271,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016206,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016261,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0013524,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0012901,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0012901,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0013524,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016391,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016175,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019574,GARD:0016260,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016424,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0016310,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0015282,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016096,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016092,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016260,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0015286,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0016355,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016205,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0016398,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019435,GARD:0016391,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0013524,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019571,GARD:0016352,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0022440,GARD:0015286,Rare genetic disease +GARD:0015028,GARD:0022524,GARD:0019435,GARD:0013524,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0016271,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0013676,Rare neurologic disease +GARD:0015028,GARD:0022524,GARD:0022440,GARD:0012901,Rare neurologic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016069,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019436,GARD:0016258,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019569,GARD:0013676,Rare genetic disease +GARD:0015028,GARD:0022531,GARD:0019570,GARD:0016355,Rare genetic disease +GARD:0015029,GARD:0022513,GARD:0004775,,Rare developmental defect during embryogenesis +GARD:0015029,GARD:0022524,GARD:0004775,,Rare neurologic disease +GARD:0015029,GARD:0022531,GARD:0004775,,Rare genetic disease +GARD:0015029,GARD:0022532,GARD:0004775,,Rare urogenital disease +GARD:0015030,GARD:0022507,GARD:0005724,,Rare maxillo-facial surgical disease +GARD:0015030,GARD:0022528,GARD:0005724,,Rare otorhinolaryngologic disease +GARD:0015030,GARD:0022528,GARD:0017300,,Rare otorhinolaryngologic disease +GARD:0015030,GARD:0022531,GARD:0005724,,Rare genetic disease +GARD:0015030,GARD:0022513,GARD:0005724,,Rare developmental defect during embryogenesis +GARD:0015030,GARD:0022511,GARD:0017300,,Rare bone disease +GARD:0015030,GARD:0022507,GARD:0017300,,Rare maxillo-facial surgical disease +GARD:0015030,GARD:0022511,GARD:0005724,,Rare bone disease +GARD:0015030,GARD:0022531,GARD:0017300,,Rare genetic disease +GARD:0015030,GARD:0022513,GARD:0017300,,Rare developmental defect during embryogenesis +GARD:0015030,GARD:0022521,GARD:0017300,,Rare endocrine disease +GARD:0015031,GARD:0022536,GARD:0000508,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015031,GARD:0022513,GARD:0000508,,Rare developmental defect during embryogenesis +GARD:0015031,GARD:0021079,GARD:0000508,,Rare systemic or rheumatological disease of childhood +GARD:0015031,GARD:0022511,GARD:0000508,,Rare bone disease +GARD:0015031,GARD:0022512,GARD:0000508,,Rare renal disease +GARD:0015031,GARD:0022531,GARD:0000508,,Rare genetic disease +GARD:0015031,GARD:0022525,GARD:0000508,,Rare systemic or rheumatologic disease +GARD:0015032,GARD:0022531,GARD:0012502,,Rare genetic disease +GARD:0015032,GARD:0022529,GARD:0012502,,Rare infertility +GARD:0015033,GARD:0022521,GARD:0005740,,Rare endocrine disease +GARD:0015034,GARD:0022530,GARD:0000602,,Rare allergic disease +GARD:0015034,GARD:0022517,GARD:0000602,,Rare respiratory disease +GARD:0015035,GARD:0022510,GARD:0000613,,Rare skin disease +GARD:0015036,GARD:0022524,GARD:0000011,,Rare neurologic disease +GARD:0015036,GARD:0022531,GARD:0000011,,Rare genetic disease +GARD:0015037,GARD:0022531,GARD:0000645,,Rare genetic disease +GARD:0015037,GARD:0022526,GARD:0000645,,Rare odontologic disease +GARD:0015038,GARD:0022526,GARD:0000645,,Rare odontologic disease +GARD:0015038,GARD:0022531,GARD:0000645,,Rare genetic disease +GARD:0015039,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0015039,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0015039,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0015039,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015039,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0015039,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0015039,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0015039,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0015039,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0015040,GARD:0022531,GARD:0000710,,Rare genetic disease +GARD:0015040,GARD:0022513,GARD:0000710,,Rare developmental defect during embryogenesis +GARD:0015040,GARD:0022510,GARD:0000710,,Rare skin disease +GARD:0015041,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0015041,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0015042,GARD:0022522,GARD:0006104,,Rare hematologic disease +GARD:0015042,GARD:0022536,GARD:0006104,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015042,GARD:0022535,GARD:0006104,,Rare neoplastic disease +GARD:0015043,GARD:0022536,GARD:0007459,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015043,GARD:0022506,GARD:0007459,,Rare hepatic disease +GARD:0015044,GARD:0022507,GARD:0000884,,Rare maxillo-facial surgical disease +GARD:0015044,GARD:0022513,GARD:0000884,,Rare developmental defect during embryogenesis +GARD:0015044,GARD:0022531,GARD:0000884,,Rare genetic disease +GARD:0015044,GARD:0022528,GARD:0000884,,Rare otorhinolaryngologic disease +GARD:0015045,GARD:0022531,GARD:0009489,,Rare genetic disease +GARD:0015045,GARD:0022514,GARD:0009489,,Rare gynecologic or obstetric disease +GARD:0015046,GARD:0022513,GARD:0009508,,Rare developmental defect during embryogenesis +GARD:0015046,GARD:0022520,GARD:0009508,,Rare ophthalmic disorder +GARD:0015046,GARD:0022531,GARD:0009508,,Rare genetic disease +GARD:0015047,GARD:0022520,GARD:0001155,,Rare ophthalmic disorder +GARD:0015047,GARD:0022531,GARD:0001155,,Rare genetic disease +GARD:0015048,GARD:0022535,GARD:0010091,,Rare neoplastic disease +GARD:0015048,GARD:0022520,GARD:0010091,,Rare ophthalmic disorder +GARD:0015048,GARD:0022513,GARD:0010091,,Rare developmental defect during embryogenesis +GARD:0015048,GARD:0022531,GARD:0010091,,Rare genetic disease +GARD:0015048,GARD:0022511,GARD:0010091,,Rare bone disease +GARD:0015048,GARD:0022524,GARD:0010091,,Rare neurologic disease +GARD:0015049,GARD:0022513,GARD:0010280,,Rare developmental defect during embryogenesis +GARD:0015049,GARD:0022531,GARD:0010280,,Rare genetic disease +GARD:0015049,GARD:0022511,GARD:0010280,,Rare bone disease +GARD:0015049,GARD:0022536,GARD:0010280,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015049,GARD:0022534,GARD:0010280,,Rare abdominal surgical disease +GARD:0015050,GARD:0022531,GARD:0001369,,Rare genetic disease +GARD:0015050,GARD:0022511,GARD:0001369,,Rare bone disease +GARD:0015050,GARD:0022507,GARD:0001369,,Rare maxillo-facial surgical disease +GARD:0015050,GARD:0022528,GARD:0001369,,Rare otorhinolaryngologic disease +GARD:0015050,GARD:0022513,GARD:0001369,,Rare developmental defect during embryogenesis +GARD:0015051,GARD:0022523,GARD:0009535,,Rare immune disease +GARD:0015051,GARD:0022525,GARD:0009535,,Rare systemic or rheumatologic disease +GARD:0015051,GARD:0022531,GARD:0009535,,Rare genetic disease +GARD:0015051,GARD:0022510,GARD:0009535,,Rare skin disease +GARD:0015051,GARD:0021079,GARD:0009535,,Rare systemic or rheumatological disease of childhood +GARD:0015052,GARD:0022516,GARD:0009905,,Rare gastroenterologic disease +GARD:0015052,GARD:0022531,GARD:0009905,,Rare genetic disease +GARD:0015052,GARD:0022535,GARD:0009905,,Rare neoplastic disease +GARD:0015053,GARD:0022531,GARD:0010148,,Rare genetic disease +GARD:0015053,GARD:0022528,GARD:0010148,,Rare otorhinolaryngologic disease +GARD:0015053,GARD:0022513,GARD:0010148,,Rare developmental defect during embryogenesis +GARD:0015054,GARD:0022531,GARD:0001519,,Rare genetic disease +GARD:0015054,GARD:0022524,GARD:0001519,,Rare neurologic disease +GARD:0015055,GARD:0022510,GARD:0001639,,Rare skin disease +GARD:0015055,GARD:0022531,GARD:0001639,,Rare genetic disease +GARD:0015055,GARD:0022513,GARD:0001639,,Rare developmental defect during embryogenesis +GARD:0015055,GARD:0022518,GARD:0001639,,Rare surgical thoracic disease +GARD:0015055,GARD:0022534,GARD:0001639,,Rare abdominal surgical disease +GARD:0015056,GARD:0022508,GARD:0008295,,Rare inborn errors of metabolism +GARD:0015056,GARD:0022531,GARD:0008295,,Rare genetic disease +GARD:0015057,GARD:0022508,GARD:0005243,,Rare inborn errors of metabolism +GARD:0015057,GARD:0022524,GARD:0005243,,Rare neurologic disease +GARD:0015057,GARD:0022520,GARD:0005243,,Rare ophthalmic disorder +GARD:0015057,GARD:0022531,GARD:0005243,,Rare genetic disease +GARD:0015058,GARD:0022531,GARD:0007178,,Rare genetic disease +GARD:0015058,GARD:0022512,GARD:0007178,,Rare renal disease +GARD:0015059,GARD:0022513,GARD:0000787,,Rare developmental defect during embryogenesis +GARD:0015059,GARD:0022531,GARD:0000787,,Rare genetic disease +GARD:0015059,GARD:0022524,GARD:0000787,,Rare neurologic disease +GARD:0015060,GARD:0022531,GARD:0001912,,Rare genetic disease +GARD:0015060,GARD:0022520,GARD:0001912,,Rare ophthalmic disorder +GARD:0015061,GARD:0022531,GARD:0002027,,Rare genetic disease +GARD:0015061,GARD:0022524,GARD:0002027,,Rare neurologic disease +GARD:0015062,GARD:0022525,GARD:0012251,,Rare systemic or rheumatologic disease +GARD:0015062,GARD:0022531,GARD:0012251,,Rare genetic disease +GARD:0015062,GARD:0022513,GARD:0012251,,Rare developmental defect during embryogenesis +GARD:0015062,GARD:0022520,GARD:0012251,,Rare ophthalmic disorder +GARD:0015063,GARD:0022531,GARD:0002076,,Rare genetic disease +GARD:0015063,GARD:0022510,GARD:0002076,,Rare skin disease +GARD:0015063,GARD:0022507,GARD:0002076,,Rare maxillo-facial surgical disease +GARD:0015063,GARD:0022528,GARD:0002076,,Rare otorhinolaryngologic disease +GARD:0015063,GARD:0022520,GARD:0002076,,Rare ophthalmic disorder +GARD:0015063,GARD:0022513,GARD:0002076,,Rare developmental defect during embryogenesis +GARD:0015063,GARD:0022511,GARD:0002076,,Rare bone disease +GARD:0015063,GARD:0022512,GARD:0002076,,Rare renal disease +GARD:0015063,GARD:0022536,GARD:0002076,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015064,GARD:0022522,GARD:0006621,,Rare hematologic disease +GARD:0015064,GARD:0022531,GARD:0006621,,Rare genetic disease +GARD:0015065,GARD:0022524,GARD:0005648,,Rare neurologic disease +GARD:0015066,GARD:0022535,GARD:0009620,,Rare neoplastic disease +GARD:0015066,GARD:0022536,GARD:0009620,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015066,GARD:0022522,GARD:0009620,,Rare hematologic disease +GARD:0015067,GARD:0022510,GARD:0001420,,Rare skin disease +GARD:0015067,GARD:0022513,GARD:0001417,,Rare developmental defect during embryogenesis +GARD:0015067,GARD:0022528,GARD:0001417,,Rare otorhinolaryngologic disease +GARD:0015067,GARD:0022524,GARD:0001415,,Rare neurologic disease +GARD:0015067,GARD:0022531,GARD:0001420,,Rare genetic disease +GARD:0015067,GARD:0022510,GARD:0001417,,Rare skin disease +GARD:0015067,GARD:0022520,GARD:0001415,,Rare ophthalmic disorder +GARD:0015067,GARD:0022520,GARD:0001417,,Rare ophthalmic disorder +GARD:0015067,GARD:0022524,GARD:0001417,,Rare neurologic disease +GARD:0015067,GARD:0022513,GARD:0001420,,Rare developmental defect during embryogenesis +GARD:0015067,GARD:0022535,GARD:0001420,,Rare neoplastic disease +GARD:0015067,GARD:0022513,GARD:0001415,,Rare developmental defect during embryogenesis +GARD:0015067,GARD:0022535,GARD:0001415,,Rare neoplastic disease +GARD:0015067,GARD:0022531,GARD:0001417,,Rare genetic disease +GARD:0015067,GARD:0022528,GARD:0001415,,Rare otorhinolaryngologic disease +GARD:0015067,GARD:0022510,GARD:0001415,,Rare skin disease +GARD:0015067,GARD:0022524,GARD:0001420,,Rare neurologic disease +GARD:0015067,GARD:0022528,GARD:0001420,,Rare otorhinolaryngologic disease +GARD:0015067,GARD:0022535,GARD:0001417,,Rare neoplastic disease +GARD:0015067,GARD:0022520,GARD:0001420,,Rare ophthalmic disorder +GARD:0015067,GARD:0022531,GARD:0001415,,Rare genetic disease +GARD:0015068,GARD:0022524,GARD:0001613,,Rare neurologic disease +GARD:0015068,GARD:0022531,GARD:0001613,,Rare genetic disease +GARD:0015068,GARD:0022520,GARD:0001613,,Rare ophthalmic disorder +GARD:0015069,GARD:0022525,GARD:0006421,,Rare systemic or rheumatologic disease +GARD:0015069,GARD:0022536,GARD:0006421,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015069,GARD:0022531,GARD:0006421,,Rare genetic disease +GARD:0015069,GARD:0021079,GARD:0006421,,Rare systemic or rheumatological disease of childhood +GARD:0015069,GARD:0022523,GARD:0006421,,Rare immune disease +GARD:0015069,GARD:0022512,GARD:0006421,,Rare renal disease +GARD:0015070,GARD:0022535,GARD:0001820,,Rare neoplastic disease +GARD:0015071,GARD:0022524,GARD:0000385,,Rare neurologic disease +GARD:0015071,GARD:0022531,GARD:0000385,,Rare genetic disease +GARD:0015071,GARD:0022513,GARD:0000385,,Rare developmental defect during embryogenesis +GARD:0015071,GARD:0022526,GARD:0000385,,Rare odontologic disease +GARD:0015072,GARD:0022531,GARD:0006124,,Rare genetic disease +GARD:0015072,GARD:0022524,GARD:0006124,,Rare neurologic disease +GARD:0015072,GARD:0022513,GARD:0006124,,Rare developmental defect during embryogenesis +GARD:0015072,GARD:0022511,GARD:0006124,,Rare bone disease +GARD:0015076,GARD:0022516,GARD:0006660,,Rare gastroenterologic disease +GARD:0015076,GARD:0022531,GARD:0006660,,Rare genetic disease +GARD:0015076,GARD:0022536,GARD:0006660,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015077,GARD:0022531,GARD:0012241,,Rare genetic disease +GARD:0015077,GARD:0022508,GARD:0012241,,Rare inborn errors of metabolism +GARD:0015077,GARD:0022521,GARD:0012241,,Rare endocrine disease +GARD:0015078,GARD:0022510,GARD:0003390,,Rare skin disease +GARD:0015078,GARD:0022531,GARD:0003390,,Rare genetic disease +GARD:0015079,GARD:0022506,GARD:0009804,,Rare hepatic disease +GARD:0015079,GARD:0022514,GARD:0009804,,Rare gynecologic or obstetric disease +GARD:0015080,GARD:0022527,GARD:0006814,,Rare circulatory system disease +GARD:0015080,GARD:0022513,GARD:0006814,,Rare developmental defect during embryogenesis +GARD:0015080,GARD:0022535,GARD:0006814,,Rare neoplastic disease +GARD:0015081,GARD:0022510,GARD:0003103,,Rare skin disease +GARD:0015081,GARD:0022531,GARD:0003103,,Rare genetic disease +GARD:0015082,GARD:0022531,GARD:0002470,,Rare genetic disease +GARD:0015082,GARD:0022522,GARD:0002470,,Rare hematologic disease +GARD:0015083,GARD:0022536,GARD:0005068,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015083,GARD:0022513,GARD:0005068,,Rare developmental defect during embryogenesis +GARD:0015083,GARD:0022521,GARD:0005068,,Rare endocrine disease +GARD:0015083,GARD:0022529,GARD:0017211,,Rare infertility +GARD:0015083,GARD:0022514,GARD:0005068,,Rare gynecologic or obstetric disease +GARD:0015083,GARD:0022514,GARD:0017211,,Rare gynecologic or obstetric disease +GARD:0015083,GARD:0022515,GARD:0005068,,Rare cardiac disease +GARD:0015083,GARD:0022521,GARD:0017211,,Rare endocrine disease +GARD:0015083,GARD:0022531,GARD:0005068,,Rare genetic disease +GARD:0015083,GARD:0022536,GARD:0017211,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015083,GARD:0022532,GARD:0005068,,Rare urogenital disease +GARD:0015083,GARD:0022513,GARD:0017211,,Rare developmental defect during embryogenesis +GARD:0015083,GARD:0022531,GARD:0017211,,Rare genetic disease +GARD:0015083,GARD:0022532,GARD:0017211,,Rare urogenital disease +GARD:0015086,GARD:0022524,GARD:0012551,,Rare neurologic disease +GARD:0015086,GARD:0022531,GARD:0012551,,Rare genetic disease +GARD:0015087,GARD:0022531,GARD:0009941,,Rare genetic disease +GARD:0015087,GARD:0022524,GARD:0009941,,Rare neurologic disease +GARD:0015088,GARD:0022531,GARD:0009941,,Rare genetic disease +GARD:0015088,GARD:0022524,GARD:0009941,,Rare neurologic disease +GARD:0015089,GARD:0022531,GARD:0005900,,Rare genetic disease +GARD:0015089,GARD:0022515,GARD:0005900,,Rare cardiac disease +GARD:0015089,GARD:0022536,GARD:0005900,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015089,GARD:0022524,GARD:0005900,,Rare neurologic disease +GARD:0015090,GARD:0022535,GARD:0001119,,Rare neoplastic disease +GARD:0015090,GARD:0022521,GARD:0001119,,Rare endocrine disease +GARD:0015090,GARD:0022531,GARD:0001119,,Rare genetic disease +GARD:0015090,GARD:0022515,GARD:0001119,,Rare cardiac disease +GARD:0015090,GARD:0022510,GARD:0001119,,Rare skin disease +GARD:0015091,GARD:0022524,GARD:0007162,,Rare neurologic disease +GARD:0015092,GARD:0022517,GARD:0007163,,Rare respiratory disease +GARD:0015092,GARD:0022528,GARD:0007163,,Rare otorhinolaryngologic disease +GARD:0015092,GARD:0022535,GARD:0007163,,Rare neoplastic disease +GARD:0015093,GARD:0022531,GARD:0001077,,Rare genetic disease +GARD:0015093,GARD:0022523,GARD:0001077,,Rare immune disease +GARD:0015093,GARD:0022510,GARD:0001077,,Rare skin disease +GARD:0015094,GARD:0022536,GARD:0004768,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015094,GARD:0022535,GARD:0004768,,Rare neoplastic disease +GARD:0015094,GARD:0022531,GARD:0004768,,Rare genetic disease +GARD:0015094,GARD:0022513,GARD:0004768,,Rare developmental defect during embryogenesis +GARD:0015094,GARD:0022524,GARD:0004768,,Rare neurologic disease +GARD:0015094,GARD:0022510,GARD:0004768,,Rare skin disease +GARD:0015095,GARD:0022531,GARD:0006635,,Rare genetic disease +GARD:0015095,GARD:0022524,GARD:0006635,,Rare neurologic disease +GARD:0015095,GARD:0022508,GARD:0006635,,Rare inborn errors of metabolism +GARD:0015096,GARD:0022520,GARD:0003995,,Rare ophthalmic disorder +GARD:0015096,GARD:0022531,GARD:0003995,,Rare genetic disease +GARD:0015097,GARD:0022524,GARD:0012592,,Rare neurologic disease +GARD:0015097,GARD:0022520,GARD:0012592,,Rare ophthalmic disorder +GARD:0015097,GARD:0022531,GARD:0012592,,Rare genetic disease +GARD:0015097,GARD:0022513,GARD:0012592,,Rare developmental defect during embryogenesis +GARD:0015098,GARD:0022531,GARD:0008476,,Rare genetic disease +GARD:0015098,GARD:0022536,GARD:0008476,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015098,GARD:0022508,GARD:0008476,,Rare inborn errors of metabolism +GARD:0015098,GARD:0022520,GARD:0008476,,Rare ophthalmic disorder +GARD:0015098,GARD:0022515,GARD:0008476,,Rare cardiac disease +GARD:0015099,GARD:0022520,GARD:0009890,,Rare ophthalmic disorder +GARD:0015099,GARD:0022508,GARD:0009890,,Rare inborn errors of metabolism +GARD:0015099,GARD:0022531,GARD:0009890,,Rare genetic disease +GARD:0015100,GARD:0022513,GARD:0008694,,Rare developmental defect during embryogenesis +GARD:0015100,GARD:0022520,GARD:0008694,,Rare ophthalmic disorder +GARD:0015100,GARD:0022531,GARD:0008694,,Rare genetic disease +GARD:0015100,GARD:0022511,GARD:0008694,,Rare bone disease +GARD:0015101,GARD:0022531,GARD:0007299,,Rare genetic disease +GARD:0015101,GARD:0022510,GARD:0007299,,Rare skin disease +GARD:0015101,GARD:0022511,GARD:0007299,,Rare bone disease +GARD:0015101,GARD:0022513,GARD:0007299,,Rare developmental defect during embryogenesis +GARD:0015102,GARD:0022513,GARD:0010753,,Rare developmental defect during embryogenesis +GARD:0015102,GARD:0022510,GARD:0010753,,Rare skin disease +GARD:0015102,GARD:0022531,GARD:0010753,,Rare genetic disease +GARD:0015103,GARD:0022531,GARD:0010753,,Rare genetic disease +GARD:0015103,GARD:0022513,GARD:0010753,,Rare developmental defect during embryogenesis +GARD:0015103,GARD:0022510,GARD:0010753,,Rare skin disease +GARD:0015104,GARD:0022513,GARD:0004203,,Rare developmental defect during embryogenesis +GARD:0015104,GARD:0022536,GARD:0004203,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015104,GARD:0022531,GARD:0004203,,Rare genetic disease +GARD:0015104,GARD:0022534,GARD:0004203,,Rare abdominal surgical disease +GARD:0015105,GARD:0022535,GARD:0011984,,Rare neoplastic disease +GARD:0015105,GARD:0022531,GARD:0011984,,Rare genetic disease +GARD:0015105,GARD:0022521,GARD:0011984,,Rare endocrine disease +GARD:0015106,GARD:0022516,GARD:0008598,,Rare gastroenterologic disease +GARD:0015106,GARD:0022536,GARD:0008598,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015106,GARD:0022531,GARD:0008598,,Rare genetic disease +GARD:0015106,GARD:0022535,GARD:0008598,,Rare neoplastic disease +GARD:0015107,GARD:0022531,GARD:0002258,,Rare genetic disease +GARD:0015107,GARD:0022524,GARD:0002258,,Rare neurologic disease +GARD:0015107,GARD:0022513,GARD:0002258,,Rare developmental defect during embryogenesis +GARD:0015108,GARD:0022510,GARD:0004438,,Rare skin disease +GARD:0015108,GARD:0022531,GARD:0004438,,Rare genetic disease +GARD:0015109,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0015109,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0015109,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0015110,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015110,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015110,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015111,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015111,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015111,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015112,GARD:0022509,GARD:0009687,,Rare infectious disease +GARD:0015113,GARD:0022524,GARD:0005839,,Rare neurologic disease +GARD:0015114,GARD:0022531,GARD:0010624,,Rare genetic disease +GARD:0015114,GARD:0022513,GARD:0010624,,Rare developmental defect during embryogenesis +GARD:0015114,GARD:0022511,GARD:0010624,,Rare bone disease +GARD:0015115,GARD:0022513,GARD:0003836,,Rare developmental defect during embryogenesis +GARD:0015115,GARD:0022528,GARD:0003836,,Rare otorhinolaryngologic disease +GARD:0015115,GARD:0022531,GARD:0003836,,Rare genetic disease +GARD:0015115,GARD:0022511,GARD:0003836,,Rare bone disease +GARD:0015116,GARD:0022513,GARD:0005184,,Rare developmental defect during embryogenesis +GARD:0015116,GARD:0022531,GARD:0005184,,Rare genetic disease +GARD:0015116,GARD:0022517,GARD:0005184,,Rare respiratory disease +GARD:0015116,GARD:0022511,GARD:0005184,,Rare bone disease +GARD:0015117,GARD:0022522,GARD:0002562,,Rare hematologic disease +GARD:0015117,GARD:0022531,GARD:0002562,,Rare genetic disease +GARD:0015118,GARD:0022523,GARD:0010299,,Rare immune disease +GARD:0015118,GARD:0022528,GARD:0010299,,Rare otorhinolaryngologic disease +GARD:0015118,GARD:0022512,GARD:0010299,,Rare renal disease +GARD:0015118,GARD:0022521,GARD:0010299,,Rare endocrine disease +GARD:0015118,GARD:0022536,GARD:0010299,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015118,GARD:0022513,GARD:0010299,,Rare developmental defect during embryogenesis +GARD:0015118,GARD:0022519,GARD:0010299,,Rare surgical cardiac disease +GARD:0015118,GARD:0022531,GARD:0010299,,Rare genetic disease +GARD:0015118,GARD:0022534,GARD:0010299,,Rare abdominal surgical disease +GARD:0015118,GARD:0022524,GARD:0010299,,Rare neurologic disease +GARD:0015118,GARD:0022507,GARD:0010299,,Rare maxillo-facial surgical disease +GARD:0015119,GARD:0022524,GARD:0010814,,Rare neurologic disease +GARD:0015120,GARD:0022511,GARD:0000916,,Rare bone disease +GARD:0015120,GARD:0022513,GARD:0000916,,Rare developmental defect during embryogenesis +GARD:0015120,GARD:0022531,GARD:0000916,,Rare genetic disease +GARD:0015121,GARD:0022536,GARD:0007830,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015121,GARD:0022510,GARD:0007830,,Rare skin disease +GARD:0015121,GARD:0022535,GARD:0007830,,Rare neoplastic disease +GARD:0015121,GARD:0022524,GARD:0007830,,Rare neurologic disease +GARD:0015121,GARD:0022512,GARD:0007830,,Rare renal disease +GARD:0015121,GARD:0022513,GARD:0007830,,Rare developmental defect during embryogenesis +GARD:0015121,GARD:0022527,GARD:0007830,,Rare circulatory system disease +GARD:0015121,GARD:0022531,GARD:0007830,,Rare genetic disease +GARD:0015122,GARD:0022531,GARD:0005404,,Rare genetic disease +GARD:0015122,GARD:0022510,GARD:0005404,,Rare skin disease +GARD:0015123,GARD:0022519,GARD:0010299,,Rare surgical cardiac disease +GARD:0015123,GARD:0022531,GARD:0010299,,Rare genetic disease +GARD:0015123,GARD:0022536,GARD:0010299,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015123,GARD:0022524,GARD:0010299,,Rare neurologic disease +GARD:0015123,GARD:0022534,GARD:0010299,,Rare abdominal surgical disease +GARD:0015123,GARD:0022512,GARD:0010299,,Rare renal disease +GARD:0015123,GARD:0022513,GARD:0010299,,Rare developmental defect during embryogenesis +GARD:0015123,GARD:0022523,GARD:0010299,,Rare immune disease +GARD:0015123,GARD:0022521,GARD:0010299,,Rare endocrine disease +GARD:0015123,GARD:0022507,GARD:0010299,,Rare maxillo-facial surgical disease +GARD:0015123,GARD:0022528,GARD:0010299,,Rare otorhinolaryngologic disease +GARD:0015124,GARD:0022536,GARD:0007892,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015124,GARD:0022535,GARD:0007892,,Rare neoplastic disease +GARD:0015124,GARD:0022512,GARD:0007892,,Rare renal disease +GARD:0015124,GARD:0022531,GARD:0007892,,Rare genetic disease +GARD:0015125,GARD:0022535,GARD:0007892,,Rare neoplastic disease +GARD:0015125,GARD:0022531,GARD:0007892,,Rare genetic disease +GARD:0015125,GARD:0022536,GARD:0007892,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015125,GARD:0022512,GARD:0007892,,Rare renal disease +GARD:0015126,GARD:0022531,GARD:0005623,,Rare genetic disease +GARD:0015126,GARD:0022522,GARD:0005623,,Rare hematologic disease +GARD:0015127,GARD:0022516,GARD:0000005,,Rare gastroenterologic disease +GARD:0015127,GARD:0022531,GARD:0000005,,Rare genetic disease +GARD:0015127,GARD:0022522,GARD:0000005,,Rare hematologic disease +GARD:0015127,GARD:0022508,GARD:0000005,,Rare inborn errors of metabolism +GARD:0015127,GARD:0022521,GARD:0000005,,Rare endocrine disease +GARD:0015127,GARD:0022520,GARD:0000005,,Rare ophthalmic disorder +GARD:0015127,GARD:0022524,GARD:0000005,,Rare neurologic disease +GARD:0015128,GARD:0022524,GARD:0006003,,Rare neurologic disease +GARD:0015128,GARD:0022531,GARD:0006003,,Rare genetic disease +GARD:0015128,GARD:0022511,GARD:0006003,,Rare bone disease +GARD:0015128,GARD:0022521,GARD:0006003,,Rare endocrine disease +GARD:0015128,GARD:0022513,GARD:0006003,,Rare developmental defect during embryogenesis +GARD:0015129,GARD:0022524,GARD:0003976,,Rare neurologic disease +GARD:0015129,GARD:0022531,GARD:0003976,,Rare genetic disease +GARD:0015130,GARD:0022531,GARD:0000514,,Rare genetic disease +GARD:0015130,GARD:0022513,GARD:0000514,,Rare developmental defect during embryogenesis +GARD:0015130,GARD:0022512,GARD:0000514,,Rare renal disease +GARD:0015130,GARD:0022536,GARD:0000514,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015131,GARD:0022531,GARD:0000555,,Rare genetic disease +GARD:0015131,GARD:0022529,GARD:0000555,,Rare infertility +GARD:0015131,GARD:0022521,GARD:0000555,,Rare endocrine disease +GARD:0015131,GARD:0022514,GARD:0000555,,Rare gynecologic or obstetric disease +GARD:0015132,GARD:0022529,GARD:0000558,,Rare infertility +GARD:0015132,GARD:0022535,GARD:0000558,,Rare neoplastic disease +GARD:0015132,GARD:0022521,GARD:0000558,,Rare endocrine disease +GARD:0015133,GARD:0022531,GARD:0002498,,Rare genetic disease +GARD:0015133,GARD:0022521,GARD:0002498,,Rare endocrine disease +GARD:0015133,GARD:0022524,GARD:0002498,,Rare neurologic disease +GARD:0015134,GARD:0022520,GARD:0000559,,Rare ophthalmic disorder +GARD:0015134,GARD:0022521,GARD:0000559,,Rare endocrine disease +GARD:0015134,GARD:0022513,GARD:0004648,,Rare developmental defect during embryogenesis +GARD:0015134,GARD:0022506,GARD:0004648,,Rare hepatic disease +GARD:0015134,GARD:0022531,GARD:0004648,,Rare genetic disease +GARD:0015134,GARD:0022531,GARD:0000559,,Rare genetic disease +GARD:0015134,GARD:0022520,GARD:0004648,,Rare ophthalmic disorder +GARD:0015134,GARD:0022506,GARD:0000559,,Rare hepatic disease +GARD:0015134,GARD:0022508,GARD:0000559,,Rare inborn errors of metabolism +GARD:0015134,GARD:0022524,GARD:0004648,,Rare neurologic disease +GARD:0015134,GARD:0022508,GARD:0004648,,Rare inborn errors of metabolism +GARD:0015134,GARD:0022524,GARD:0000559,,Rare neurologic disease +GARD:0015135,GARD:0022531,GARD:0000614,,Rare genetic disease +GARD:0015135,GARD:0022510,GARD:0000614,,Rare skin disease +GARD:0015136,GARD:0022531,GARD:0000645,,Rare genetic disease +GARD:0015136,GARD:0022526,GARD:0000645,,Rare odontologic disease +GARD:0015137,GARD:0022531,GARD:0011901,,Rare genetic disease +GARD:0015137,GARD:0022524,GARD:0011901,,Rare neurologic disease +GARD:0015138,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0015139,GARD:0022513,GARD:0000794,,Rare developmental defect during embryogenesis +GARD:0015139,GARD:0022506,GARD:0000794,,Rare hepatic disease +GARD:0015139,GARD:0022536,GARD:0000794,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015139,GARD:0022512,GARD:0000794,,Rare renal disease +GARD:0015139,GARD:0022508,GARD:0000794,,Rare inborn errors of metabolism +GARD:0015139,GARD:0022510,GARD:0000794,,Rare skin disease +GARD:0015139,GARD:0022531,GARD:0000794,,Rare genetic disease +GARD:0015140,GARD:0022531,GARD:0003049,,Rare genetic disease +GARD:0015140,GARD:0022536,GARD:0003049,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015140,GARD:0022511,GARD:0003049,,Rare bone disease +GARD:0015140,GARD:0022512,GARD:0003049,,Rare renal disease +GARD:0015140,GARD:0022517,GARD:0003049,,Rare respiratory disease +GARD:0015140,GARD:0022513,GARD:0003049,,Rare developmental defect during embryogenesis +GARD:0015141,GARD:0022520,GARD:0005862,,Rare ophthalmic disorder +GARD:0015141,GARD:0022531,GARD:0005862,,Rare genetic disease +GARD:0015141,GARD:0022513,GARD:0005862,,Rare developmental defect during embryogenesis +GARD:0015141,GARD:0022523,GARD:0005862,,Rare immune disease +GARD:0015141,GARD:0022514,GARD:0005862,,Rare gynecologic or obstetric disease +GARD:0015141,GARD:0022535,GARD:0005862,,Rare neoplastic disease +GARD:0015141,GARD:0022524,GARD:0005862,,Rare neurologic disease +GARD:0015141,GARD:0022521,GARD:0005862,,Rare endocrine disease +GARD:0015141,GARD:0022536,GARD:0005862,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015141,GARD:0022510,GARD:0005862,,Rare skin disease +GARD:0015142,GARD:0022528,GARD:0000884,,Rare otorhinolaryngologic disease +GARD:0015142,GARD:0022531,GARD:0000884,,Rare genetic disease +GARD:0015142,GARD:0022507,GARD:0000884,,Rare maxillo-facial surgical disease +GARD:0015142,GARD:0022513,GARD:0000884,,Rare developmental defect during embryogenesis +GARD:0015143,GARD:0022511,GARD:0008562,,Rare bone disease +GARD:0015143,GARD:0022513,GARD:0008562,,Rare developmental defect during embryogenesis +GARD:0015143,GARD:0022524,GARD:0008562,,Rare neurologic disease +GARD:0015143,GARD:0022531,GARD:0008562,,Rare genetic disease +GARD:0015144,GARD:0022524,GARD:0005120,,Rare neurologic disease +GARD:0015144,GARD:0022511,GARD:0005120,,Rare bone disease +GARD:0015144,GARD:0022531,GARD:0005120,,Rare genetic disease +GARD:0015144,GARD:0022513,GARD:0005120,,Rare developmental defect during embryogenesis +GARD:0015144,GARD:0022520,GARD:0005120,,Rare ophthalmic disorder +GARD:0015145,GARD:0022513,GARD:0005120,,Rare developmental defect during embryogenesis +GARD:0015145,GARD:0022524,GARD:0005120,,Rare neurologic disease +GARD:0015145,GARD:0022520,GARD:0005120,,Rare ophthalmic disorder +GARD:0015145,GARD:0022511,GARD:0005120,,Rare bone disease +GARD:0015145,GARD:0022531,GARD:0005120,,Rare genetic disease +GARD:0015146,GARD:0022535,GARD:0010879,,Rare neoplastic disease +GARD:0015146,GARD:0022521,GARD:0010879,,Rare endocrine disease +GARD:0015146,GARD:0022513,GARD:0010879,,Rare developmental defect during embryogenesis +GARD:0015146,GARD:0022531,GARD:0010879,,Rare genetic disease +GARD:0015146,GARD:0022510,GARD:0010879,,Rare skin disease +GARD:0015146,GARD:0022511,GARD:0010879,,Rare bone disease +GARD:0015146,GARD:0022508,GARD:0010879,,Rare inborn errors of metabolism +GARD:0015148,GARD:0022536,GARD:0009511,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015148,GARD:0022515,GARD:0009511,,Rare cardiac disease +GARD:0015148,GARD:0022531,GARD:0009511,,Rare genetic disease +GARD:0015148,GARD:0022508,GARD:0009511,,Rare inborn errors of metabolism +GARD:0015149,GARD:0022536,GARD:0007917,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015149,GARD:0022524,GARD:0007917,,Rare neurologic disease +GARD:0015149,GARD:0022531,GARD:0007917,,Rare genetic disease +GARD:0015149,GARD:0022512,GARD:0007917,,Rare renal disease +GARD:0015149,GARD:0022513,GARD:0007917,,Rare developmental defect during embryogenesis +GARD:0015149,GARD:0022506,GARD:0007917,,Rare hepatic disease +GARD:0015149,GARD:0022520,GARD:0007917,,Rare ophthalmic disorder +GARD:0015149,GARD:0022508,GARD:0007917,,Rare inborn errors of metabolism +GARD:0015150,GARD:0022524,GARD:0006027,,Rare neurologic disease +GARD:0015150,GARD:0022528,GARD:0006027,,Rare otorhinolaryngologic disease +GARD:0015150,GARD:0022531,GARD:0006027,,Rare genetic disease +GARD:0015150,GARD:0022520,GARD:0006027,,Rare ophthalmic disorder +GARD:0015150,GARD:0022535,GARD:0006027,,Rare neoplastic disease +GARD:0015150,GARD:0022510,GARD:0006027,,Rare skin disease +GARD:0015150,GARD:0022513,GARD:0006027,,Rare developmental defect during embryogenesis +GARD:0015151,GARD:0022534,GARD:0010280,,Rare abdominal surgical disease +GARD:0015151,GARD:0022513,GARD:0010280,,Rare developmental defect during embryogenesis +GARD:0015151,GARD:0022511,GARD:0010280,,Rare bone disease +GARD:0015151,GARD:0022536,GARD:0010280,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015151,GARD:0022531,GARD:0010280,,Rare genetic disease +GARD:0015152,GARD:0022524,GARD:0001305,,Rare neurologic disease +GARD:0015152,GARD:0022531,GARD:0001305,,Rare genetic disease +GARD:0015153,GARD:0022513,GARD:0001410,,Rare developmental defect during embryogenesis +GARD:0015153,GARD:0022531,GARD:0001410,,Rare genetic disease +GARD:0015153,GARD:0022524,GARD:0001410,,Rare neurologic disease +GARD:0015153,GARD:0022506,GARD:0001410,,Rare hepatic disease +GARD:0015153,GARD:0022520,GARD:0001410,,Rare ophthalmic disorder +GARD:0015154,GARD:0022520,GARD:0001417,,Rare ophthalmic disorder +GARD:0015154,GARD:0022520,GARD:0001415,,Rare ophthalmic disorder +GARD:0015154,GARD:0022513,GARD:0001420,,Rare developmental defect during embryogenesis +GARD:0015154,GARD:0022520,GARD:0001420,,Rare ophthalmic disorder +GARD:0015154,GARD:0022528,GARD:0001417,,Rare otorhinolaryngologic disease +GARD:0015154,GARD:0022513,GARD:0001417,,Rare developmental defect during embryogenesis +GARD:0015154,GARD:0022528,GARD:0001415,,Rare otorhinolaryngologic disease +GARD:0015154,GARD:0022531,GARD:0001415,,Rare genetic disease +GARD:0015154,GARD:0022535,GARD:0001420,,Rare neoplastic disease +GARD:0015154,GARD:0022524,GARD:0001415,,Rare neurologic disease +GARD:0015154,GARD:0022535,GARD:0001415,,Rare neoplastic disease +GARD:0015154,GARD:0022524,GARD:0001420,,Rare neurologic disease +GARD:0015154,GARD:0022524,GARD:0001417,,Rare neurologic disease +GARD:0015154,GARD:0022528,GARD:0001420,,Rare otorhinolaryngologic disease +GARD:0015154,GARD:0022531,GARD:0001417,,Rare genetic disease +GARD:0015154,GARD:0022510,GARD:0001415,,Rare skin disease +GARD:0015154,GARD:0022510,GARD:0001417,,Rare skin disease +GARD:0015154,GARD:0022513,GARD:0001415,,Rare developmental defect during embryogenesis +GARD:0015154,GARD:0022510,GARD:0001420,,Rare skin disease +GARD:0015154,GARD:0022531,GARD:0001420,,Rare genetic disease +GARD:0015154,GARD:0022535,GARD:0001417,,Rare neoplastic disease +GARD:0015155,GARD:0022523,GARD:0015025,,Rare immune disease +GARD:0015155,GARD:0022531,GARD:0015025,,Rare genetic disease +GARD:0015156,GARD:0022531,GARD:0001567,,Rare genetic disease +GARD:0015156,GARD:0022511,GARD:0001567,,Rare bone disease +GARD:0015156,GARD:0022513,GARD:0001567,,Rare developmental defect during embryogenesis +GARD:0015157,GARD:0022534,GARD:0008480,,Rare abdominal surgical disease +GARD:0015157,GARD:0022531,GARD:0008480,,Rare genetic disease +GARD:0015157,GARD:0022527,GARD:0008480,,Rare circulatory system disease +GARD:0015157,GARD:0022510,GARD:0008480,,Rare skin disease +GARD:0015157,GARD:0022513,GARD:0008480,,Rare developmental defect during embryogenesis +GARD:0015157,GARD:0022518,GARD:0008480,,Rare surgical thoracic disease +GARD:0015158,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0015158,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0015159,GARD:0022508,GARD:0008370,,Rare inborn errors of metabolism +GARD:0015159,GARD:0022520,GARD:0008370,,Rare ophthalmic disorder +GARD:0015159,GARD:0022524,GARD:0008370,,Rare neurologic disease +GARD:0015159,GARD:0022531,GARD:0008370,,Rare genetic disease +GARD:0015160,GARD:0022531,GARD:0005666,,Rare genetic disease +GARD:0015160,GARD:0022524,GARD:0005666,,Rare neurologic disease +GARD:0015160,GARD:0022513,GARD:0005666,,Rare developmental defect during embryogenesis +GARD:0015161,GARD:0022517,GARD:0001481,,Rare respiratory disease +GARD:0015161,GARD:0022534,GARD:0001481,,Rare abdominal surgical disease +GARD:0015161,GARD:0022513,GARD:0001481,,Rare developmental defect during embryogenesis +GARD:0015161,GARD:0022518,GARD:0001481,,Rare surgical thoracic disease +GARD:0015162,GARD:0022513,GARD:0002033,,Rare developmental defect during embryogenesis +GARD:0015162,GARD:0022511,GARD:0002033,,Rare bone disease +GARD:0015162,GARD:0022531,GARD:0002033,,Rare genetic disease +GARD:0015162,GARD:0022524,GARD:0002033,,Rare neurologic disease +GARD:0015163,GARD:0022513,GARD:0002057,,Rare developmental defect during embryogenesis +GARD:0015163,GARD:0022526,GARD:0002057,,Rare odontologic disease +GARD:0015163,GARD:0022520,GARD:0002057,,Rare ophthalmic disorder +GARD:0015163,GARD:0022531,GARD:0002057,,Rare genetic disease +GARD:0015163,GARD:0022510,GARD:0002057,,Rare skin disease +GARD:0015164,GARD:0022520,GARD:0012251,,Rare ophthalmic disorder +GARD:0015164,GARD:0022531,GARD:0012251,,Rare genetic disease +GARD:0015164,GARD:0022525,GARD:0012251,,Rare systemic or rheumatologic disease +GARD:0015164,GARD:0022513,GARD:0012251,,Rare developmental defect during embryogenesis +GARD:0015165,GARD:0022531,GARD:0008426,,Rare genetic disease +GARD:0015165,GARD:0022521,GARD:0008426,,Rare endocrine disease +GARD:0015165,GARD:0022531,GARD:0016842,,Rare genetic disease +GARD:0015165,GARD:0022521,GARD:0016841,,Rare endocrine disease +GARD:0015165,GARD:0022531,GARD:0016841,,Rare genetic disease +GARD:0015165,GARD:0022521,GARD:0016842,,Rare endocrine disease +GARD:0015166,GARD:0022531,GARD:0006319,,Rare genetic disease +GARD:0015166,GARD:0022513,GARD:0006319,,Rare developmental defect during embryogenesis +GARD:0015166,GARD:0022511,GARD:0006319,,Rare bone disease +GARD:0015167,GARD:0022525,GARD:0000575,,Rare systemic or rheumatologic disease +GARD:0015167,GARD:0022524,GARD:0000575,,Rare neurologic disease +GARD:0015167,GARD:0022531,GARD:0000575,,Rare genetic disease +GARD:0015167,GARD:0021079,GARD:0000575,,Rare systemic or rheumatological disease of childhood +GARD:0015167,GARD:0022523,GARD:0000575,,Rare immune disease +GARD:0015168,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0015168,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0015168,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015168,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0015168,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0015168,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0015168,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0015168,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0015168,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0015169,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015169,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0015169,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0015169,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0015169,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0015169,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0015169,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0015169,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0015169,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0015170,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015170,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0015170,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0015170,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0015170,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0015170,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0015170,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0015170,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0015170,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0015171,GARD:0022510,GARD:0005025,,Rare skin disease +GARD:0015171,GARD:0022531,GARD:0005025,,Rare genetic disease +GARD:0015172,GARD:0022513,GARD:0002449,,Rare developmental defect during embryogenesis +GARD:0015172,GARD:0022511,GARD:0002449,,Rare bone disease +GARD:0015172,GARD:0022531,GARD:0002449,,Rare genetic disease +GARD:0015173,GARD:0022508,GARD:0002515,,Rare inborn errors of metabolism +GARD:0015173,GARD:0022536,GARD:0002515,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015173,GARD:0022523,GARD:0002515,,Rare immune disease +GARD:0015173,GARD:0022506,GARD:0002515,,Rare hepatic disease +GARD:0015173,GARD:0022531,GARD:0002515,,Rare genetic disease +GARD:0015173,GARD:0022512,GARD:0002515,,Rare renal disease +GARD:0015174,GARD:0022531,GARD:0005068,,Rare genetic disease +GARD:0015174,GARD:0022514,GARD:0005068,,Rare gynecologic or obstetric disease +GARD:0015174,GARD:0022521,GARD:0005068,,Rare endocrine disease +GARD:0015174,GARD:0022536,GARD:0005068,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015174,GARD:0022532,GARD:0005068,,Rare urogenital disease +GARD:0015174,GARD:0022513,GARD:0005068,,Rare developmental defect during embryogenesis +GARD:0015174,GARD:0022515,GARD:0005068,,Rare cardiac disease +GARD:0015175,GARD:0022516,GARD:0006100,,Rare gastroenterologic disease +GARD:0015175,GARD:0022523,GARD:0006100,,Rare immune disease +GARD:0015175,GARD:0022536,GARD:0006100,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015175,GARD:0022520,GARD:0006100,,Rare ophthalmic disorder +GARD:0015175,GARD:0022510,GARD:0006100,,Rare skin disease +GARD:0015175,GARD:0022531,GARD:0006100,,Rare genetic disease +GARD:0015175,GARD:0022517,GARD:0006100,,Rare respiratory disease +GARD:0015176,GARD:0022517,GARD:0006100,,Rare respiratory disease +GARD:0015176,GARD:0022531,GARD:0006100,,Rare genetic disease +GARD:0015176,GARD:0022536,GARD:0006100,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015176,GARD:0022510,GARD:0006100,,Rare skin disease +GARD:0015176,GARD:0022516,GARD:0006100,,Rare gastroenterologic disease +GARD:0015176,GARD:0022520,GARD:0006100,,Rare ophthalmic disorder +GARD:0015176,GARD:0022523,GARD:0006100,,Rare immune disease +GARD:0015177,GARD:0022531,GARD:0006100,,Rare genetic disease +GARD:0015177,GARD:0022510,GARD:0006100,,Rare skin disease +GARD:0015177,GARD:0022523,GARD:0006100,,Rare immune disease +GARD:0015177,GARD:0022520,GARD:0006100,,Rare ophthalmic disorder +GARD:0015177,GARD:0022517,GARD:0006100,,Rare respiratory disease +GARD:0015177,GARD:0022516,GARD:0006100,,Rare gastroenterologic disease +GARD:0015177,GARD:0022536,GARD:0006100,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015179,GARD:0022531,GARD:0006621,,Rare genetic disease +GARD:0015179,GARD:0022522,GARD:0006621,,Rare hematologic disease +GARD:0015180,GARD:0022517,GARD:0006763,,Rare respiratory disease +GARD:0015180,GARD:0022536,GARD:0006763,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015181,GARD:0022524,GARD:0003318,,Rare neurologic disease +GARD:0015181,GARD:0022513,GARD:0003318,,Rare developmental defect during embryogenesis +GARD:0015181,GARD:0022531,GARD:0003318,,Rare genetic disease +GARD:0015181,GARD:0022527,GARD:0003318,,Rare circulatory system disease +GARD:0015181,GARD:0022523,GARD:0003318,,Rare immune disease +GARD:0015181,GARD:0022510,GARD:0003318,,Rare skin disease +GARD:0015182,GARD:0022513,GARD:0006683,,Rare developmental defect during embryogenesis +GARD:0015182,GARD:0022507,GARD:0006683,,Rare maxillo-facial surgical disease +GARD:0015182,GARD:0022531,GARD:0006683,,Rare genetic disease +GARD:0015182,GARD:0022528,GARD:0006683,,Rare otorhinolaryngologic disease +GARD:0015182,GARD:0022524,GARD:0006683,,Rare neurologic disease +GARD:0015183,GARD:0022508,GARD:0002828,,Rare inborn errors of metabolism +GARD:0015183,GARD:0022531,GARD:0002828,,Rare genetic disease +GARD:0015184,GARD:0022523,GARD:0006140,,Rare immune disease +GARD:0015184,GARD:0022535,GARD:0006140,,Rare neoplastic disease +GARD:0015184,GARD:0022531,GARD:0006140,,Rare genetic disease +GARD:0015185,GARD:0022523,GARD:0008427,,Rare immune disease +GARD:0015185,GARD:0022531,GARD:0008427,,Rare genetic disease +GARD:0015185,GARD:0022536,GARD:0008427,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015186,GARD:0022512,GARD:0009496,,Rare renal disease +GARD:0015186,GARD:0022531,GARD:0009496,,Rare genetic disease +GARD:0015186,GARD:0022536,GARD:0009496,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015187,GARD:0022513,GARD:0017303,,Rare developmental defect during embryogenesis +GARD:0015187,GARD:0022513,GARD:0009736,,Rare developmental defect during embryogenesis +GARD:0015187,GARD:0022520,GARD:0009736,,Rare ophthalmic disorder +GARD:0015187,GARD:0022520,GARD:0017303,,Rare ophthalmic disorder +GARD:0015187,GARD:0022531,GARD:0017303,,Rare genetic disease +GARD:0015187,GARD:0022531,GARD:0009736,,Rare genetic disease +GARD:0015187,GARD:0022510,GARD:0017303,,Rare skin disease +GARD:0015187,GARD:0022510,GARD:0009736,,Rare skin disease +GARD:0015188,GARD:0022524,GARD:0002945,,Rare neurologic disease +GARD:0015188,GARD:0022536,GARD:0002945,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015188,GARD:0022531,GARD:0002945,,Rare genetic disease +GARD:0015188,GARD:0022523,GARD:0002945,,Rare immune disease +GARD:0015189,GARD:0022531,GARD:0005279,,Rare genetic disease +GARD:0015189,GARD:0022524,GARD:0005279,,Rare neurologic disease +GARD:0015189,GARD:0022513,GARD:0005279,,Rare developmental defect during embryogenesis +GARD:0015189,GARD:0022520,GARD:0005279,,Rare ophthalmic disorder +GARD:0015190,GARD:0022531,GARD:0003024,,Rare genetic disease +GARD:0015190,GARD:0022522,GARD:0003024,,Rare hematologic disease +GARD:0015190,GARD:0022508,GARD:0003024,,Rare inborn errors of metabolism +GARD:0015191,GARD:0022524,GARD:0007617,,Rare neurologic disease +GARD:0015192,GARD:0022509,GARD:0006886,,Rare infectious disease +GARD:0015192,GARD:0022529,GARD:0006886,,Rare infertility +GARD:0015192,GARD:0022524,GARD:0006886,,Rare neurologic disease +GARD:0015193,GARD:0022531,GARD:0006319,,Rare genetic disease +GARD:0015193,GARD:0022513,GARD:0006319,,Rare developmental defect during embryogenesis +GARD:0015193,GARD:0022511,GARD:0006319,,Rare bone disease +GARD:0015194,GARD:0022510,GARD:0001077,,Rare skin disease +GARD:0015194,GARD:0022523,GARD:0001077,,Rare immune disease +GARD:0015194,GARD:0022531,GARD:0001077,,Rare genetic disease +GARD:0015195,GARD:0022531,GARD:0003442,,Rare genetic disease +GARD:0015195,GARD:0022512,GARD:0003442,,Rare renal disease +GARD:0015195,GARD:0022516,GARD:0003442,,Rare gastroenterologic disease +GARD:0015195,GARD:0022536,GARD:0003442,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015195,GARD:0022513,GARD:0003442,,Rare developmental defect during embryogenesis +GARD:0015196,GARD:0022522,GARD:0002659,,Rare hematologic disease +GARD:0015196,GARD:0022524,GARD:0002659,,Rare neurologic disease +GARD:0015196,GARD:0022531,GARD:0002659,,Rare genetic disease +GARD:0015196,GARD:0022536,GARD:0002659,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015197,GARD:0022531,GARD:0002659,,Rare genetic disease +GARD:0015197,GARD:0022522,GARD:0002659,,Rare hematologic disease +GARD:0015197,GARD:0022524,GARD:0002659,,Rare neurologic disease +GARD:0015197,GARD:0022536,GARD:0002659,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015198,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0015198,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0015198,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0015198,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0015199,GARD:0022513,GARD:0000065,,Rare developmental defect during embryogenesis +GARD:0015199,GARD:0022524,GARD:0000065,,Rare neurologic disease +GARD:0015199,GARD:0022536,GARD:0000065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015199,GARD:0022531,GARD:0000065,,Rare genetic disease +GARD:0015199,GARD:0022512,GARD:0000065,,Rare renal disease +GARD:0015200,GARD:0022531,GARD:0003644,,Rare genetic disease +GARD:0015200,GARD:0022513,GARD:0003644,,Rare developmental defect during embryogenesis +GARD:0015200,GARD:0022520,GARD:0003644,,Rare ophthalmic disorder +GARD:0015201,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0015201,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0015201,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0015201,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0015201,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0015201,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0015201,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0015202,GARD:0022508,GARD:0005053,,Rare inborn errors of metabolism +GARD:0015202,GARD:0022524,GARD:0005053,,Rare neurologic disease +GARD:0015202,GARD:0022531,GARD:0005053,,Rare genetic disease +GARD:0015203,GARD:0022523,GARD:0001077,,Rare immune disease +GARD:0015203,GARD:0022531,GARD:0001077,,Rare genetic disease +GARD:0015203,GARD:0022510,GARD:0001077,,Rare skin disease +GARD:0015204,GARD:0022513,GARD:0000156,,Rare developmental defect during embryogenesis +GARD:0015204,GARD:0022508,GARD:0000156,,Rare inborn errors of metabolism +GARD:0015204,GARD:0022520,GARD:0002599,,Rare ophthalmic disorder +GARD:0015204,GARD:0022508,GARD:0002599,,Rare inborn errors of metabolism +GARD:0015204,GARD:0022513,GARD:0002599,,Rare developmental defect during embryogenesis +GARD:0015204,GARD:0022524,GARD:0002599,,Rare neurologic disease +GARD:0015204,GARD:0022520,GARD:0000156,,Rare ophthalmic disorder +GARD:0015204,GARD:0022531,GARD:0000156,,Rare genetic disease +GARD:0015204,GARD:0022524,GARD:0000156,,Rare neurologic disease +GARD:0015204,GARD:0022531,GARD:0002599,,Rare genetic disease +GARD:0015205,GARD:0022520,GARD:0000156,,Rare ophthalmic disorder +GARD:0015205,GARD:0022524,GARD:0002599,,Rare neurologic disease +GARD:0015205,GARD:0022531,GARD:0000156,,Rare genetic disease +GARD:0015205,GARD:0022524,GARD:0000156,,Rare neurologic disease +GARD:0015205,GARD:0022520,GARD:0002599,,Rare ophthalmic disorder +GARD:0015205,GARD:0022508,GARD:0000156,,Rare inborn errors of metabolism +GARD:0015205,GARD:0022508,GARD:0002599,,Rare inborn errors of metabolism +GARD:0015205,GARD:0022513,GARD:0000156,,Rare developmental defect during embryogenesis +GARD:0015205,GARD:0022531,GARD:0002599,,Rare genetic disease +GARD:0015205,GARD:0022513,GARD:0002599,,Rare developmental defect during embryogenesis +GARD:0015206,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0015206,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0015206,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0015206,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0015207,GARD:0022531,GARD:0007148,,Rare genetic disease +GARD:0015207,GARD:0022524,GARD:0007148,,Rare neurologic disease +GARD:0015208,GARD:0022524,GARD:0012718,,Rare neurologic disease +GARD:0015208,GARD:0022531,GARD:0012718,,Rare genetic disease +GARD:0015209,GARD:0022524,GARD:0007171,,Rare neurologic disease +GARD:0015209,GARD:0022524,GARD:0012822,,Rare neurologic disease +GARD:0015209,GARD:0022524,GARD:0012823,,Rare neurologic disease +GARD:0015209,GARD:0022531,GARD:0012821,,Rare genetic disease +GARD:0015209,GARD:0022531,GARD:0012822,,Rare genetic disease +GARD:0015209,GARD:0022531,GARD:0007171,,Rare genetic disease +GARD:0015209,GARD:0022531,GARD:0012823,,Rare genetic disease +GARD:0015209,GARD:0022524,GARD:0012821,,Rare neurologic disease +GARD:0015210,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0015210,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0015210,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015211,GARD:0022535,GARD:0007185,,Rare neoplastic disease +GARD:0015211,GARD:0022524,GARD:0007185,,Rare neurologic disease +GARD:0015212,GARD:0022531,GARD:0003995,,Rare genetic disease +GARD:0015212,GARD:0022520,GARD:0003995,,Rare ophthalmic disorder +GARD:0015213,GARD:0022513,GARD:0007239,,Rare developmental defect during embryogenesis +GARD:0015213,GARD:0022531,GARD:0007239,,Rare genetic disease +GARD:0015213,GARD:0022510,GARD:0007239,,Rare skin disease +GARD:0015213,GARD:0022527,GARD:0007239,,Rare circulatory system disease +GARD:0015213,GARD:0022511,GARD:0007239,,Rare bone disease +GARD:0015213,GARD:0022524,GARD:0007239,,Rare neurologic disease +GARD:0015213,GARD:0022526,GARD:0007239,,Rare odontologic disease +GARD:0015213,GARD:0022520,GARD:0007239,,Rare ophthalmic disorder +GARD:0015214,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0015214,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0015215,GARD:0022520,GARD:0001191,,Rare ophthalmic disorder +GARD:0015215,GARD:0022524,GARD:0001191,,Rare neurologic disease +GARD:0015215,GARD:0022531,GARD:0001191,,Rare genetic disease +GARD:0015215,GARD:0022508,GARD:0001191,,Rare inborn errors of metabolism +GARD:0015216,GARD:0022531,GARD:0007299,,Rare genetic disease +GARD:0015216,GARD:0022510,GARD:0007299,,Rare skin disease +GARD:0015216,GARD:0022513,GARD:0007299,,Rare developmental defect during embryogenesis +GARD:0015216,GARD:0022511,GARD:0007299,,Rare bone disease +GARD:0015217,GARD:0022531,GARD:0000916,,Rare genetic disease +GARD:0015217,GARD:0022511,GARD:0000916,,Rare bone disease +GARD:0015217,GARD:0022513,GARD:0000916,,Rare developmental defect during embryogenesis +GARD:0015218,GARD:0022513,GARD:0006760,,Rare developmental defect during embryogenesis +GARD:0015218,GARD:0022531,GARD:0006760,,Rare genetic disease +GARD:0015218,GARD:0022511,GARD:0006760,,Rare bone disease +GARD:0015218,GARD:0022525,GARD:0006760,,Rare systemic or rheumatologic disease +GARD:0015218,GARD:0021079,GARD:0006760,,Rare systemic or rheumatological disease of childhood +GARD:0015219,GARD:0022510,GARD:0010753,,Rare skin disease +GARD:0015219,GARD:0022531,GARD:0010753,,Rare genetic disease +GARD:0015219,GARD:0022513,GARD:0010753,,Rare developmental defect during embryogenesis +GARD:0015220,GARD:0022534,GARD:0004203,,Rare abdominal surgical disease +GARD:0015220,GARD:0022531,GARD:0004203,,Rare genetic disease +GARD:0015220,GARD:0022536,GARD:0004203,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015220,GARD:0022513,GARD:0004203,,Rare developmental defect during embryogenesis +GARD:0015221,GARD:0022524,GARD:0004863,,Rare neurologic disease +GARD:0015221,GARD:0022511,GARD:0004863,,Rare bone disease +GARD:0015221,GARD:0022531,GARD:0004863,,Rare genetic disease +GARD:0015221,GARD:0022523,GARD:0004863,,Rare immune disease +GARD:0015221,GARD:0022536,GARD:0004863,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015221,GARD:0022516,GARD:0004863,,Rare gastroenterologic disease +GARD:0015221,GARD:0022513,GARD:0004863,,Rare developmental defect during embryogenesis +GARD:0015221,GARD:0022522,GARD:0004863,,Rare hematologic disease +GARD:0015221,GARD:0022535,GARD:0004863,,Rare neoplastic disease +GARD:0015222,GARD:0022521,GARD:0015020,,Rare endocrine disease +GARD:0015222,GARD:0022529,GARD:0010602,,Rare infertility +GARD:0015222,GARD:0022514,GARD:0010602,,Rare gynecologic or obstetric disease +GARD:0015222,GARD:0022521,GARD:0010602,,Rare endocrine disease +GARD:0015222,GARD:0022529,GARD:0015020,,Rare infertility +GARD:0015222,GARD:0022531,GARD:0010602,,Rare genetic disease +GARD:0015222,GARD:0022531,GARD:0015020,,Rare genetic disease +GARD:0015222,GARD:0022514,GARD:0015020,,Rare gynecologic or obstetric disease +GARD:0015223,GARD:0022506,GARD:0009839,,Rare hepatic disease +GARD:0015223,GARD:0022524,GARD:0009839,,Rare neurologic disease +GARD:0015223,GARD:0022531,GARD:0009839,,Rare genetic disease +GARD:0015223,GARD:0022508,GARD:0009839,,Rare inborn errors of metabolism +GARD:0015224,GARD:0022531,GARD:0004833,,Rare genetic disease +GARD:0015224,GARD:0022517,GARD:0004833,,Rare respiratory disease +GARD:0015224,GARD:0022513,GARD:0004833,,Rare developmental defect during embryogenesis +GARD:0015224,GARD:0022511,GARD:0004833,,Rare bone disease +GARD:0015225,GARD:0022531,GARD:0000953,,Rare genetic disease +GARD:0015225,GARD:0022511,GARD:0000953,,Rare bone disease +GARD:0015225,GARD:0022513,GARD:0000953,,Rare developmental defect during embryogenesis +GARD:0015226,GARD:0022520,GARD:0004648,,Rare ophthalmic disorder +GARD:0015226,GARD:0022520,GARD:0000559,,Rare ophthalmic disorder +GARD:0015226,GARD:0022506,GARD:0000559,,Rare hepatic disease +GARD:0015226,GARD:0022531,GARD:0004648,,Rare genetic disease +GARD:0015226,GARD:0022524,GARD:0000559,,Rare neurologic disease +GARD:0015226,GARD:0022508,GARD:0004648,,Rare inborn errors of metabolism +GARD:0015226,GARD:0022513,GARD:0004648,,Rare developmental defect during embryogenesis +GARD:0015226,GARD:0022521,GARD:0000559,,Rare endocrine disease +GARD:0015226,GARD:0022524,GARD:0004648,,Rare neurologic disease +GARD:0015226,GARD:0022506,GARD:0004648,,Rare hepatic disease +GARD:0015226,GARD:0022508,GARD:0000559,,Rare inborn errors of metabolism +GARD:0015226,GARD:0022531,GARD:0000559,,Rare genetic disease +GARD:0015227,GARD:0022512,GARD:0008600,,Rare renal disease +GARD:0015227,GARD:0022513,GARD:0008600,,Rare developmental defect during embryogenesis +GARD:0015227,GARD:0022511,GARD:0008600,,Rare bone disease +GARD:0015227,GARD:0022531,GARD:0008600,,Rare genetic disease +GARD:0015227,GARD:0022536,GARD:0008600,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015227,GARD:0022520,GARD:0008600,,Rare ophthalmic disorder +GARD:0015228,GARD:0022511,GARD:0004154,,Rare bone disease +GARD:0015228,GARD:0022531,GARD:0004154,,Rare genetic disease +GARD:0015228,GARD:0022536,GARD:0004154,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015228,GARD:0022513,GARD:0004154,,Rare developmental defect during embryogenesis +GARD:0015228,GARD:0022512,GARD:0004154,,Rare renal disease +GARD:0015228,GARD:0022524,GARD:0004154,,Rare neurologic disease +GARD:0015229,GARD:0022536,GARD:0004666,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015229,GARD:0022531,GARD:0004666,,Rare genetic disease +GARD:0015229,GARD:0022513,GARD:0004666,,Rare developmental defect during embryogenesis +GARD:0015229,GARD:0022528,GARD:0004666,,Rare otorhinolaryngologic disease +GARD:0015229,GARD:0022512,GARD:0004666,,Rare renal disease +GARD:0015230,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015230,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015230,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015231,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015231,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015231,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015232,GARD:0022525,GARD:0005699,,Rare systemic or rheumatologic disease +GARD:0015233,GARD:0022513,GARD:0004771,,Rare developmental defect during embryogenesis +GARD:0015233,GARD:0022531,GARD:0004771,,Rare genetic disease +GARD:0015233,GARD:0022511,GARD:0004771,,Rare bone disease +GARD:0015234,GARD:0022531,GARD:0001519,,Rare genetic disease +GARD:0015234,GARD:0022524,GARD:0001519,,Rare neurologic disease +GARD:0015235,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0015235,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0015236,GARD:0022522,GARD:0006639,,Rare hematologic disease +GARD:0015236,GARD:0022531,GARD:0006639,,Rare genetic disease +GARD:0015237,GARD:0022511,GARD:0010624,,Rare bone disease +GARD:0015237,GARD:0022513,GARD:0010624,,Rare developmental defect during embryogenesis +GARD:0015237,GARD:0022531,GARD:0010624,,Rare genetic disease +GARD:0015238,GARD:0022531,GARD:0000386,,Rare genetic disease +GARD:0015238,GARD:0022511,GARD:0000386,,Rare bone disease +GARD:0015238,GARD:0022513,GARD:0000386,,Rare developmental defect during embryogenesis +GARD:0015238,GARD:0022520,GARD:0000386,,Rare ophthalmic disorder +GARD:0015239,GARD:0022511,GARD:0005667,,Rare bone disease +GARD:0015239,GARD:0022513,GARD:0005667,,Rare developmental defect during embryogenesis +GARD:0015239,GARD:0022531,GARD:0005667,,Rare genetic disease +GARD:0015240,GARD:0022531,GARD:0002478,,Rare genetic disease +GARD:0015240,GARD:0022522,GARD:0002478,,Rare hematologic disease +GARD:0015241,GARD:0022528,GARD:0005440,,Rare otorhinolaryngologic disease +GARD:0015241,GARD:0022531,GARD:0005440,,Rare genetic disease +GARD:0015241,GARD:0022520,GARD:0005440,,Rare ophthalmic disorder +GARD:0015241,GARD:0022513,GARD:0005440,,Rare developmental defect during embryogenesis +GARD:0015242,GARD:0022528,GARD:0005442,,Rare otorhinolaryngologic disease +GARD:0015242,GARD:0022531,GARD:0005442,,Rare genetic disease +GARD:0015242,GARD:0022520,GARD:0005442,,Rare ophthalmic disorder +GARD:0015242,GARD:0022513,GARD:0005442,,Rare developmental defect during embryogenesis +GARD:0015243,GARD:0022531,GARD:0005461,,Rare genetic disease +GARD:0015243,GARD:0022536,GARD:0005461,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015243,GARD:0022513,GARD:0005461,,Rare developmental defect during embryogenesis +GARD:0015243,GARD:0022529,GARD:0005461,,Rare infertility +GARD:0015243,GARD:0022532,GARD:0005461,,Rare urogenital disease +GARD:0015244,GARD:0022524,GARD:0010705,,Rare neurologic disease +GARD:0015244,GARD:0022513,GARD:0010705,,Rare developmental defect during embryogenesis +GARD:0015244,GARD:0022531,GARD:0010705,,Rare genetic disease +GARD:0015245,GARD:0022534,GARD:0005524,,Rare abdominal surgical disease +GARD:0015245,GARD:0022531,GARD:0005524,,Rare genetic disease +GARD:0015245,GARD:0022536,GARD:0005524,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015245,GARD:0022513,GARD:0005524,,Rare developmental defect during embryogenesis +GARD:0015245,GARD:0022510,GARD:0005524,,Rare skin disease +GARD:0015245,GARD:0022528,GARD:0005524,,Rare otorhinolaryngologic disease +GARD:0015245,GARD:0022516,GARD:0005524,,Rare gastroenterologic disease +GARD:0015246,GARD:0022531,GARD:0004936,,Rare genetic disease +GARD:0015246,GARD:0022513,GARD:0004936,,Rare developmental defect during embryogenesis +GARD:0015246,GARD:0022520,GARD:0004936,,Rare ophthalmic disorder +GARD:0015246,GARD:0022511,GARD:0004936,,Rare bone disease +GARD:0015247,GARD:0022510,GARD:0009170,,Rare skin disease +GARD:0015247,GARD:0022510,GARD:0005597,,Rare skin disease +GARD:0015247,GARD:0022531,GARD:0009170,,Rare genetic disease +GARD:0015247,GARD:0022531,GARD:0005597,,Rare genetic disease +GARD:0015248,GARD:0022524,GARD:0000547,,Rare neurologic disease +GARD:0015248,GARD:0022508,GARD:0000547,,Rare inborn errors of metabolism +GARD:0015248,GARD:0022531,GARD:0000547,,Rare genetic disease +GARD:0015249,GARD:0022532,GARD:0000399,,Rare urogenital disease +GARD:0015249,GARD:0022529,GARD:0000399,,Rare infertility +GARD:0015249,GARD:0022536,GARD:0000399,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015249,GARD:0022531,GARD:0000399,,Rare genetic disease +GARD:0015249,GARD:0022521,GARD:0000399,,Rare endocrine disease +GARD:0015249,GARD:0022513,GARD:0000399,,Rare developmental defect during embryogenesis +GARD:0015250,GARD:0022520,GARD:0007904,,Rare ophthalmic disorder +GARD:0015250,GARD:0022510,GARD:0007904,,Rare skin disease +GARD:0015250,GARD:0022531,GARD:0007904,,Rare genetic disease +GARD:0015251,GARD:0022520,GARD:0003995,,Rare ophthalmic disorder +GARD:0015251,GARD:0022531,GARD:0003995,,Rare genetic disease +GARD:0015253,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015253,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015253,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015254,GARD:0022531,GARD:0009781,,Rare genetic disease +GARD:0015254,GARD:0022513,GARD:0009781,,Rare developmental defect during embryogenesis +GARD:0015254,GARD:0022524,GARD:0009781,,Rare neurologic disease +GARD:0015255,GARD:0022531,GARD:0021119,GARD:0021972,Rare genetic disease +GARD:0015255,GARD:0022508,GARD:0021347,GARD:0001289,Rare inborn errors of metabolism +GARD:0015255,GARD:0022506,GARD:0021119,GARD:0017867,Rare hepatic disease +GARD:0015255,GARD:0022508,GARD:0021347,GARD:0021972,Rare inborn errors of metabolism +GARD:0015255,GARD:0022536,GARD:0021119,GARD:0001289,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015255,GARD:0022531,GARD:0021119,GARD:0009803,Rare genetic disease +GARD:0015255,GARD:0022536,GARD:0021119,GARD:0009803,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015255,GARD:0022536,GARD:0021119,GARD:0021972,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015255,GARD:0022508,GARD:0021347,GARD:0001288,Rare inborn errors of metabolism +GARD:0015255,GARD:0022508,GARD:0021347,GARD:0017867,Rare inborn errors of metabolism +GARD:0015255,GARD:0022531,GARD:0021347,GARD:0009802,Rare genetic disease +GARD:0015255,GARD:0022531,GARD:0021119,GARD:0001288,Rare genetic disease +GARD:0015255,GARD:0022506,GARD:0021119,GARD:0009803,Rare hepatic disease +GARD:0015255,GARD:0022536,GARD:0021119,GARD:0017867,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015255,GARD:0022508,GARD:0021347,GARD:0009802,Rare inborn errors of metabolism +GARD:0015255,GARD:0022536,GARD:0021119,GARD:0017037,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015255,GARD:0022506,GARD:0021119,GARD:0001289,Rare hepatic disease +GARD:0015255,GARD:0022531,GARD:0021347,GARD:0017867,Rare genetic disease +GARD:0015255,GARD:0022506,GARD:0021119,GARD:0009802,Rare hepatic disease +GARD:0015255,GARD:0022531,GARD:0021119,GARD:0001289,Rare genetic disease +GARD:0015255,GARD:0022531,GARD:0021347,GARD:0009803,Rare genetic disease +GARD:0015255,GARD:0022531,GARD:0021119,GARD:0009802,Rare genetic disease +GARD:0015255,GARD:0022531,GARD:0021347,GARD:0021972,Rare genetic disease +GARD:0015255,GARD:0022508,GARD:0021347,GARD:0009803,Rare inborn errors of metabolism +GARD:0015255,GARD:0022531,GARD:0021347,GARD:0001288,Rare genetic disease +GARD:0015255,GARD:0022536,GARD:0021119,GARD:0009802,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015255,GARD:0022531,GARD:0021119,GARD:0017037,Rare genetic disease +GARD:0015255,GARD:0022508,GARD:0021347,GARD:0017037,Rare inborn errors of metabolism +GARD:0015255,GARD:0022531,GARD:0021119,GARD:0017867,Rare genetic disease +GARD:0015255,GARD:0022506,GARD:0021119,GARD:0021972,Rare hepatic disease +GARD:0015255,GARD:0022531,GARD:0021347,GARD:0017037,Rare genetic disease +GARD:0015255,GARD:0022531,GARD:0021347,GARD:0001289,Rare genetic disease +GARD:0015255,GARD:0022506,GARD:0021119,GARD:0017037,Rare hepatic disease +GARD:0015255,GARD:0022536,GARD:0021119,GARD:0001288,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015255,GARD:0022506,GARD:0021119,GARD:0001288,Rare hepatic disease +GARD:0015256,GARD:0022524,GARD:0006011,,Rare neurologic disease +GARD:0015256,GARD:0022531,GARD:0006011,,Rare genetic disease +GARD:0015256,GARD:0022513,GARD:0006011,,Rare developmental defect during embryogenesis +GARD:0015257,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015257,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0015257,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0015257,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0015257,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0015257,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0015257,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0015257,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0015257,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0015258,GARD:0022524,GARD:0006161,,Rare neurologic disease +GARD:0015258,GARD:0022531,GARD:0006161,,Rare genetic disease +GARD:0015259,GARD:0022534,GARD:0010109,,Rare abdominal surgical disease +GARD:0015259,GARD:0022524,GARD:0010109,,Rare neurologic disease +GARD:0015259,GARD:0022511,GARD:0010109,,Rare bone disease +GARD:0015259,GARD:0022531,GARD:0010109,,Rare genetic disease +GARD:0015259,GARD:0022513,GARD:0010109,,Rare developmental defect during embryogenesis +GARD:0015259,GARD:0022520,GARD:0010109,,Rare ophthalmic disorder +GARD:0015259,GARD:0022528,GARD:0010109,,Rare otorhinolaryngologic disease +GARD:0015259,GARD:0022507,GARD:0010109,,Rare maxillo-facial surgical disease +GARD:0015259,GARD:0022518,GARD:0010109,,Rare surgical thoracic disease +GARD:0015260,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015260,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015260,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015261,GARD:0022531,GARD:0012162,,Rare genetic disease +GARD:0015261,GARD:0022524,GARD:0012162,,Rare neurologic disease +GARD:0015262,GARD:0022524,GARD:0012162,,Rare neurologic disease +GARD:0015262,GARD:0022531,GARD:0012162,,Rare genetic disease +GARD:0015263,GARD:0022517,GARD:0004582,,Rare respiratory disease +GARD:0015263,GARD:0022523,GARD:0004582,,Rare immune disease +GARD:0015263,GARD:0022531,GARD:0004582,,Rare genetic disease +GARD:0015263,GARD:0022536,GARD:0004582,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015264,GARD:0022531,GARD:0003307,,Rare genetic disease +GARD:0015264,GARD:0022524,GARD:0003307,,Rare neurologic disease +GARD:0015264,GARD:0022513,GARD:0003307,,Rare developmental defect during embryogenesis +GARD:0015265,GARD:0022507,GARD:0004412,,Rare maxillo-facial surgical disease +GARD:0015265,GARD:0022528,GARD:0004412,,Rare otorhinolaryngologic disease +GARD:0015265,GARD:0022531,GARD:0004412,,Rare genetic disease +GARD:0015265,GARD:0022513,GARD:0004412,,Rare developmental defect during embryogenesis +GARD:0015265,GARD:0022511,GARD:0004412,,Rare bone disease +GARD:0015265,GARD:0022524,GARD:0004412,,Rare neurologic disease +GARD:0015265,GARD:0022520,GARD:0004412,,Rare ophthalmic disorder +GARD:0015266,GARD:0022513,GARD:0009781,,Rare developmental defect during embryogenesis +GARD:0015266,GARD:0022531,GARD:0009781,,Rare genetic disease +GARD:0015266,GARD:0022524,GARD:0009781,,Rare neurologic disease +GARD:0015267,GARD:0022536,GARD:0000399,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015267,GARD:0022513,GARD:0000399,,Rare developmental defect during embryogenesis +GARD:0015267,GARD:0022529,GARD:0000399,,Rare infertility +GARD:0015267,GARD:0022521,GARD:0000399,,Rare endocrine disease +GARD:0015267,GARD:0022532,GARD:0000399,,Rare urogenital disease +GARD:0015267,GARD:0022531,GARD:0000399,,Rare genetic disease +GARD:0015268,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0015268,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0015269,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0015270,GARD:0022518,GARD:0006810,,Rare surgical thoracic disease +GARD:0015270,GARD:0022524,GARD:0006810,,Rare neurologic disease +GARD:0015270,GARD:0022534,GARD:0006810,,Rare abdominal surgical disease +GARD:0015270,GARD:0022531,GARD:0006810,,Rare genetic disease +GARD:0015270,GARD:0022536,GARD:0006810,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015270,GARD:0022520,GARD:0006810,,Rare ophthalmic disorder +GARD:0015270,GARD:0022513,GARD:0006810,,Rare developmental defect during embryogenesis +GARD:0015271,GARD:0022507,GARD:0010109,,Rare maxillo-facial surgical disease +GARD:0015271,GARD:0022524,GARD:0010109,,Rare neurologic disease +GARD:0015271,GARD:0022528,GARD:0010109,,Rare otorhinolaryngologic disease +GARD:0015271,GARD:0022511,GARD:0010109,,Rare bone disease +GARD:0015271,GARD:0022520,GARD:0010109,,Rare ophthalmic disorder +GARD:0015271,GARD:0022534,GARD:0010109,,Rare abdominal surgical disease +GARD:0015271,GARD:0022513,GARD:0010109,,Rare developmental defect during embryogenesis +GARD:0015271,GARD:0022531,GARD:0010109,,Rare genetic disease +GARD:0015271,GARD:0022518,GARD:0010109,,Rare surgical thoracic disease +GARD:0015272,GARD:0022531,GARD:0003659,,Rare genetic disease +GARD:0015272,GARD:0022524,GARD:0003659,,Rare neurologic disease +GARD:0015272,GARD:0022510,GARD:0003659,,Rare skin disease +GARD:0015272,GARD:0022534,GARD:0003659,,Rare abdominal surgical disease +GARD:0015272,GARD:0022513,GARD:0003659,,Rare developmental defect during embryogenesis +GARD:0015272,GARD:0022536,GARD:0003659,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015272,GARD:0022520,GARD:0003659,,Rare ophthalmic disorder +GARD:0015273,GARD:0022510,GARD:0004075,,Rare skin disease +GARD:0015273,GARD:0022531,GARD:0004075,,Rare genetic disease +GARD:0015274,GARD:0022535,GARD:0005725,,Rare neoplastic disease +GARD:0015274,GARD:0022521,GARD:0005725,,Rare endocrine disease +GARD:0015274,GARD:0022529,GARD:0005725,,Rare infertility +GARD:0015275,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0015275,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0015275,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015275,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0015275,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0015275,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0015275,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0015275,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0015275,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0015276,GARD:0022534,GARD:0003659,,Rare abdominal surgical disease +GARD:0015276,GARD:0022531,GARD:0003659,,Rare genetic disease +GARD:0015276,GARD:0022513,GARD:0003659,,Rare developmental defect during embryogenesis +GARD:0015276,GARD:0022524,GARD:0003659,,Rare neurologic disease +GARD:0015276,GARD:0022510,GARD:0003659,,Rare skin disease +GARD:0015276,GARD:0022536,GARD:0003659,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015276,GARD:0022520,GARD:0003659,,Rare ophthalmic disorder +GARD:0015277,GARD:0022529,GARD:0012109,,Rare infertility +GARD:0015277,GARD:0022510,GARD:0012109,,Rare skin disease +GARD:0015277,GARD:0022524,GARD:0012109,,Rare neurologic disease +GARD:0015277,GARD:0022520,GARD:0012109,,Rare ophthalmic disorder +GARD:0015277,GARD:0022531,GARD:0012109,,Rare genetic disease +GARD:0015277,GARD:0022513,GARD:0012109,,Rare developmental defect during embryogenesis +GARD:0015278,GARD:0022531,GARD:0005666,,Rare genetic disease +GARD:0015278,GARD:0022513,GARD:0005666,,Rare developmental defect during embryogenesis +GARD:0015278,GARD:0022524,GARD:0005666,,Rare neurologic disease +GARD:0015279,GARD:0022529,GARD:0005461,,Rare infertility +GARD:0015279,GARD:0022513,GARD:0005461,,Rare developmental defect during embryogenesis +GARD:0015279,GARD:0022536,GARD:0005461,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015279,GARD:0022531,GARD:0005461,,Rare genetic disease +GARD:0015279,GARD:0022532,GARD:0005461,,Rare urogenital disease +GARD:0015280,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015280,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015280,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015281,GARD:0022513,GARD:0000065,,Rare developmental defect during embryogenesis +GARD:0015281,GARD:0022512,GARD:0000065,,Rare renal disease +GARD:0015281,GARD:0022531,GARD:0000065,,Rare genetic disease +GARD:0015281,GARD:0022524,GARD:0000065,,Rare neurologic disease +GARD:0015281,GARD:0022536,GARD:0000065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015282,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0015282,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0015283,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0015283,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0015283,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0015284,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0015284,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0015284,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0015285,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0015285,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015285,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0015286,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0015286,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0015287,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015287,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015287,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015289,GARD:0022531,GARD:0007178,,Rare genetic disease +GARD:0015289,GARD:0022512,GARD:0007178,,Rare renal disease +GARD:0015290,GARD:0022531,GARD:0006295,,Rare genetic disease +GARD:0015290,GARD:0022524,GARD:0006295,,Rare neurologic disease +GARD:0015290,GARD:0022513,GARD:0006295,,Rare developmental defect during embryogenesis +GARD:0015290,GARD:0022511,GARD:0006295,,Rare bone disease +GARD:0015291,GARD:0022535,GARD:0006357,,Rare neoplastic disease +GARD:0015291,GARD:0022531,GARD:0006357,,Rare genetic disease +GARD:0015291,GARD:0022510,GARD:0006357,,Rare skin disease +GARD:0015291,GARD:0022523,GARD:0006357,,Rare immune disease +GARD:0015292,GARD:0022524,GARD:0001613,,Rare neurologic disease +GARD:0015292,GARD:0022531,GARD:0001613,,Rare genetic disease +GARD:0015292,GARD:0022520,GARD:0001613,,Rare ophthalmic disorder +GARD:0015293,GARD:0022513,GARD:0000826,,Rare developmental defect during embryogenesis +GARD:0015293,GARD:0022511,GARD:0000826,,Rare bone disease +GARD:0015293,GARD:0022531,GARD:0000826,,Rare genetic disease +GARD:0015293,GARD:0022524,GARD:0000826,,Rare neurologic disease +GARD:0015294,GARD:0022536,GARD:0006100,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015294,GARD:0022531,GARD:0006100,,Rare genetic disease +GARD:0015294,GARD:0022523,GARD:0006100,,Rare immune disease +GARD:0015294,GARD:0022520,GARD:0006100,,Rare ophthalmic disorder +GARD:0015294,GARD:0022510,GARD:0006100,,Rare skin disease +GARD:0015294,GARD:0022516,GARD:0006100,,Rare gastroenterologic disease +GARD:0015294,GARD:0022517,GARD:0006100,,Rare respiratory disease +GARD:0015295,GARD:0022517,GARD:0001481,,Rare respiratory disease +GARD:0015295,GARD:0022534,GARD:0001481,,Rare abdominal surgical disease +GARD:0015295,GARD:0022518,GARD:0001481,,Rare surgical thoracic disease +GARD:0015295,GARD:0022513,GARD:0001481,,Rare developmental defect during embryogenesis +GARD:0015296,GARD:0022536,GARD:0009496,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015296,GARD:0022531,GARD:0009496,,Rare genetic disease +GARD:0015296,GARD:0022512,GARD:0009496,,Rare renal disease +GARD:0015297,GARD:0022510,GARD:0002952,,Rare skin disease +GARD:0015297,GARD:0022531,GARD:0002952,,Rare genetic disease +GARD:0015297,GARD:0022513,GARD:0002952,,Rare developmental defect during embryogenesis +GARD:0015298,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0015298,GARD:0022524,GARD:0007887,,Rare neurologic disease +GARD:0015298,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0015298,GARD:0022531,GARD:0007887,,Rare genetic disease +GARD:0015299,GARD:0022531,GARD:0006829,,Rare genetic disease +GARD:0015299,GARD:0022510,GARD:0006829,,Rare skin disease +GARD:0015300,GARD:0022520,GARD:0006870,,Rare ophthalmic disorder +GARD:0015300,GARD:0022531,GARD:0006870,,Rare genetic disease +GARD:0015300,GARD:0022515,GARD:0006870,,Rare cardiac disease +GARD:0015300,GARD:0022508,GARD:0006870,,Rare inborn errors of metabolism +GARD:0015300,GARD:0022536,GARD:0006870,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015301,GARD:0022521,GARD:0001804,,Rare endocrine disease +GARD:0015301,GARD:0022511,GARD:0001804,,Rare bone disease +GARD:0015301,GARD:0022513,GARD:0001804,,Rare developmental defect during embryogenesis +GARD:0015301,GARD:0022512,GARD:0001804,,Rare renal disease +GARD:0015301,GARD:0022536,GARD:0001804,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015301,GARD:0022531,GARD:0001804,,Rare genetic disease +GARD:0015302,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0015302,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0015304,GARD:0022520,GARD:0000087,,Rare ophthalmic disorder +GARD:0015304,GARD:0022513,GARD:0000087,,Rare developmental defect during embryogenesis +GARD:0015304,GARD:0022524,GARD:0000087,,Rare neurologic disease +GARD:0015304,GARD:0022531,GARD:0000087,,Rare genetic disease +GARD:0015305,GARD:0022513,GARD:0001804,,Rare developmental defect during embryogenesis +GARD:0015305,GARD:0022511,GARD:0001804,,Rare bone disease +GARD:0015305,GARD:0022512,GARD:0001804,,Rare renal disease +GARD:0015305,GARD:0022531,GARD:0001804,,Rare genetic disease +GARD:0015305,GARD:0022536,GARD:0001804,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015305,GARD:0022521,GARD:0001804,,Rare endocrine disease +GARD:0015306,GARD:0022531,GARD:0003995,,Rare genetic disease +GARD:0015306,GARD:0022520,GARD:0003995,,Rare ophthalmic disorder +GARD:0015308,GARD:0022511,GARD:0006319,,Rare bone disease +GARD:0015308,GARD:0022531,GARD:0006319,,Rare genetic disease +GARD:0015308,GARD:0022513,GARD:0006319,,Rare developmental defect during embryogenesis +GARD:0015309,GARD:0022513,GARD:0000272,,Rare developmental defect during embryogenesis +GARD:0015309,GARD:0022524,GARD:0000272,,Rare neurologic disease +GARD:0015309,GARD:0022531,GARD:0000272,,Rare genetic disease +GARD:0015309,GARD:0022536,GARD:0000272,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015309,GARD:0022534,GARD:0000272,,Rare abdominal surgical disease +GARD:0015310,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015310,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015310,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015311,GARD:0022531,GARD:0008476,,Rare genetic disease +GARD:0015311,GARD:0022515,GARD:0008476,,Rare cardiac disease +GARD:0015311,GARD:0022520,GARD:0008476,,Rare ophthalmic disorder +GARD:0015311,GARD:0022508,GARD:0008476,,Rare inborn errors of metabolism +GARD:0015311,GARD:0022536,GARD:0008476,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015312,GARD:0022508,GARD:0003885,,Rare inborn errors of metabolism +GARD:0015312,GARD:0022524,GARD:0003885,,Rare neurologic disease +GARD:0015312,GARD:0022522,GARD:0003885,,Rare hematologic disease +GARD:0015312,GARD:0022531,GARD:0003885,,Rare genetic disease +GARD:0015313,GARD:0022520,GARD:0007898,,Rare ophthalmic disorder +GARD:0015313,GARD:0022531,GARD:0007898,,Rare genetic disease +GARD:0015313,GARD:0022528,GARD:0007898,,Rare otorhinolaryngologic disease +GARD:0015313,GARD:0022513,GARD:0007898,,Rare developmental defect during embryogenesis +GARD:0015313,GARD:0022521,GARD:0007898,,Rare endocrine disease +GARD:0015314,GARD:0022531,GARD:0000181,,Rare genetic disease +GARD:0015314,GARD:0022520,GARD:0000181,,Rare ophthalmic disorder +GARD:0015315,GARD:0022516,GARD:0006660,,Rare gastroenterologic disease +GARD:0015315,GARD:0022531,GARD:0006660,,Rare genetic disease +GARD:0015315,GARD:0022536,GARD:0006660,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015316,GARD:0022531,GARD:0006660,,Rare genetic disease +GARD:0015316,GARD:0022536,GARD:0006660,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015316,GARD:0022516,GARD:0006660,,Rare gastroenterologic disease +GARD:0015317,GARD:0022524,GARD:0009941,,Rare neurologic disease +GARD:0015317,GARD:0022531,GARD:0009941,,Rare genetic disease +GARD:0015319,GARD:0022531,GARD:0011918,,Rare genetic disease +GARD:0015319,GARD:0022524,GARD:0011918,,Rare neurologic disease +GARD:0015320,GARD:0022531,GARD:0010947,,Rare genetic disease +GARD:0015320,GARD:0022510,GARD:0010947,,Rare skin disease +GARD:0015321,GARD:0022531,GARD:0012590,,Rare genetic disease +GARD:0015321,GARD:0022520,GARD:0012590,,Rare ophthalmic disorder +GARD:0015321,GARD:0022524,GARD:0012590,,Rare neurologic disease +GARD:0015321,GARD:0022513,GARD:0012590,,Rare developmental defect during embryogenesis +GARD:0015322,GARD:0022524,GARD:0007392,,Rare neurologic disease +GARD:0015322,GARD:0022531,GARD:0007392,,Rare genetic disease +GARD:0015322,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0015323,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015323,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015323,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015324,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0015324,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0015324,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0015324,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015324,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0015324,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0015324,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0015324,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0015324,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0015325,GARD:0022536,GARD:0007895,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015325,GARD:0022522,GARD:0007895,,Rare hematologic disease +GARD:0015325,GARD:0022535,GARD:0007895,,Rare neoplastic disease +GARD:0015325,GARD:0022523,GARD:0007895,,Rare immune disease +GARD:0015325,GARD:0022510,GARD:0007895,,Rare skin disease +GARD:0015325,GARD:0022531,GARD:0007895,,Rare genetic disease +GARD:0015326,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0015326,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015326,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0015327,GARD:0022513,GARD:0001140,,Rare developmental defect during embryogenesis +GARD:0015327,GARD:0022531,GARD:0001140,,Rare genetic disease +GARD:0015327,GARD:0022520,GARD:0001140,,Rare ophthalmic disorder +GARD:0015328,GARD:0022531,GARD:0007892,,Rare genetic disease +GARD:0015328,GARD:0022512,GARD:0007892,,Rare renal disease +GARD:0015328,GARD:0022536,GARD:0007892,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015328,GARD:0022535,GARD:0007892,,Rare neoplastic disease +GARD:0015329,GARD:0022522,GARD:0010352,,Rare hematologic disease +GARD:0015329,GARD:0022531,GARD:0010352,,Rare genetic disease +GARD:0015329,GARD:0022535,GARD:0010352,,Rare neoplastic disease +GARD:0015330,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0015330,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0015330,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0015330,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0015331,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015331,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015331,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015332,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015332,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015332,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015334,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015334,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015334,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015335,GARD:0022531,GARD:0001155,,Rare genetic disease +GARD:0015335,GARD:0022531,GARD:0001159,,Rare genetic disease +GARD:0015335,GARD:0022513,GARD:0001159,,Rare developmental defect during embryogenesis +GARD:0015335,GARD:0022520,GARD:0001159,,Rare ophthalmic disorder +GARD:0015335,GARD:0022520,GARD:0001155,,Rare ophthalmic disorder +GARD:0015336,GARD:0022512,GARD:0007892,,Rare renal disease +GARD:0015336,GARD:0022536,GARD:0007892,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015336,GARD:0022535,GARD:0007892,,Rare neoplastic disease +GARD:0015336,GARD:0022531,GARD:0007892,,Rare genetic disease +GARD:0015337,GARD:0022531,GARD:0001613,,Rare genetic disease +GARD:0015337,GARD:0022524,GARD:0001613,,Rare neurologic disease +GARD:0015337,GARD:0022520,GARD:0001613,,Rare ophthalmic disorder +GARD:0015340,GARD:0022536,GARD:0006468,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015340,GARD:0022531,GARD:0006468,,Rare genetic disease +GARD:0015340,GARD:0022524,GARD:0006468,,Rare neurologic disease +GARD:0015340,GARD:0022515,GARD:0006468,,Rare cardiac disease +GARD:0015340,GARD:0022520,GARD:0006468,,Rare ophthalmic disorder +GARD:0015341,GARD:0022531,GARD:0012590,,Rare genetic disease +GARD:0015341,GARD:0022524,GARD:0012590,,Rare neurologic disease +GARD:0015341,GARD:0022513,GARD:0012590,,Rare developmental defect during embryogenesis +GARD:0015341,GARD:0022520,GARD:0012590,,Rare ophthalmic disorder +GARD:0015342,GARD:0022520,GARD:0011897,,Rare ophthalmic disorder +GARD:0015342,GARD:0022531,GARD:0011897,,Rare genetic disease +GARD:0015343,GARD:0022524,GARD:0011901,,Rare neurologic disease +GARD:0015343,GARD:0022531,GARD:0011901,,Rare genetic disease +GARD:0015344,GARD:0022506,GARD:0001280,,Rare hepatic disease +GARD:0015344,GARD:0022536,GARD:0001280,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015346,GARD:0022507,GARD:0009798,,Rare maxillo-facial surgical disease +GARD:0015346,GARD:0022511,GARD:0009798,,Rare bone disease +GARD:0015346,GARD:0022513,GARD:0009798,,Rare developmental defect during embryogenesis +GARD:0015346,GARD:0022528,GARD:0009798,,Rare otorhinolaryngologic disease +GARD:0015346,GARD:0022531,GARD:0009798,,Rare genetic disease +GARD:0015347,GARD:0022511,GARD:0001296,,Rare bone disease +GARD:0015347,GARD:0022508,GARD:0001296,,Rare inborn errors of metabolism +GARD:0015347,GARD:0022531,GARD:0001296,,Rare genetic disease +GARD:0015347,GARD:0022513,GARD:0001296,,Rare developmental defect during embryogenesis +GARD:0015348,GARD:0022513,GARD:0010508,,Rare developmental defect during embryogenesis +GARD:0015348,GARD:0022536,GARD:0010508,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015348,GARD:0022528,GARD:0010508,,Rare otorhinolaryngologic disease +GARD:0015348,GARD:0022531,GARD:0010508,,Rare genetic disease +GARD:0015348,GARD:0022512,GARD:0010508,,Rare renal disease +GARD:0015349,GARD:0022520,GARD:0003113,,Rare ophthalmic disorder +GARD:0015349,GARD:0022513,GARD:0003113,,Rare developmental defect during embryogenesis +GARD:0015349,GARD:0022531,GARD:0003113,,Rare genetic disease +GARD:0015349,GARD:0022510,GARD:0003113,,Rare skin disease +GARD:0015349,GARD:0022528,GARD:0003113,,Rare otorhinolaryngologic disease +GARD:0015350,GARD:0022513,GARD:0004666,,Rare developmental defect during embryogenesis +GARD:0015350,GARD:0022536,GARD:0004666,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015350,GARD:0022512,GARD:0004666,,Rare renal disease +GARD:0015350,GARD:0022528,GARD:0004666,,Rare otorhinolaryngologic disease +GARD:0015350,GARD:0022531,GARD:0004666,,Rare genetic disease +GARD:0015351,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015351,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015351,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015352,GARD:0022531,GARD:0011918,,Rare genetic disease +GARD:0015352,GARD:0022524,GARD:0011918,,Rare neurologic disease +GARD:0015353,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015353,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0015353,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0015354,GARD:0022531,GARD:0008488,,Rare genetic disease +GARD:0015354,GARD:0022521,GARD:0008488,,Rare endocrine disease +GARD:0015354,GARD:0022535,GARD:0008488,,Rare neoplastic disease +GARD:0015355,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015355,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0015355,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0015355,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0015355,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0015355,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0015355,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0015355,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0015355,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0015356,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0015356,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0015357,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015357,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015357,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015358,GARD:0022531,GARD:0008488,,Rare genetic disease +GARD:0015358,GARD:0022535,GARD:0008488,,Rare neoplastic disease +GARD:0015358,GARD:0022521,GARD:0008488,,Rare endocrine disease +GARD:0015359,GARD:0022520,GARD:0000181,,Rare ophthalmic disorder +GARD:0015359,GARD:0022531,GARD:0000181,,Rare genetic disease +GARD:0015360,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0015360,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0015360,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0015360,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0015361,GARD:0022536,GARD:0008686,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015361,GARD:0022535,GARD:0008686,,Rare neoplastic disease +GARD:0015361,GARD:0022523,GARD:0008686,,Rare immune disease +GARD:0015361,GARD:0022531,GARD:0008686,,Rare genetic disease +GARD:0015361,GARD:0022522,GARD:0008686,,Rare hematologic disease +GARD:0015362,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0015362,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0015362,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015363,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015363,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015363,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015364,GARD:0022520,GARD:0001155,,Rare ophthalmic disorder +GARD:0015364,GARD:0022531,GARD:0001155,,Rare genetic disease +GARD:0015365,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015365,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015365,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015366,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0015366,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0015366,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0015366,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0015367,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0015367,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0015367,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0015367,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0015368,GARD:0022524,GARD:0009242,,Rare neurologic disease +GARD:0015368,GARD:0022531,GARD:0009242,,Rare genetic disease +GARD:0015370,GARD:0022531,GARD:0008414,,Rare genetic disease +GARD:0015370,GARD:0022507,GARD:0008414,,Rare maxillo-facial surgical disease +GARD:0015370,GARD:0022513,GARD:0008414,,Rare developmental defect during embryogenesis +GARD:0015370,GARD:0022528,GARD:0008414,,Rare otorhinolaryngologic disease +GARD:0015372,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015372,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015372,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015373,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0015373,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0015373,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0015373,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0015374,GARD:0022513,GARD:0007898,,Rare developmental defect during embryogenesis +GARD:0015374,GARD:0022528,GARD:0007898,,Rare otorhinolaryngologic disease +GARD:0015374,GARD:0022520,GARD:0007898,,Rare ophthalmic disorder +GARD:0015374,GARD:0022531,GARD:0007898,,Rare genetic disease +GARD:0015374,GARD:0022521,GARD:0007898,,Rare endocrine disease +GARD:0015375,GARD:0022531,GARD:0009882,,Rare genetic disease +GARD:0015375,GARD:0022521,GARD:0009882,,Rare endocrine disease +GARD:0015375,GARD:0022514,GARD:0009882,,Rare gynecologic or obstetric disease +GARD:0015376,GARD:0022520,GARD:0000005,,Rare ophthalmic disorder +GARD:0015376,GARD:0022522,GARD:0000005,,Rare hematologic disease +GARD:0015376,GARD:0022521,GARD:0000005,,Rare endocrine disease +GARD:0015376,GARD:0022508,GARD:0000005,,Rare inborn errors of metabolism +GARD:0015376,GARD:0022516,GARD:0000005,,Rare gastroenterologic disease +GARD:0015376,GARD:0022524,GARD:0000005,,Rare neurologic disease +GARD:0015376,GARD:0022531,GARD:0000005,,Rare genetic disease +GARD:0015377,GARD:0022510,GARD:0001119,,Rare skin disease +GARD:0015377,GARD:0022521,GARD:0001119,,Rare endocrine disease +GARD:0015377,GARD:0022515,GARD:0001119,,Rare cardiac disease +GARD:0015377,GARD:0022535,GARD:0001119,,Rare neoplastic disease +GARD:0015377,GARD:0022531,GARD:0001119,,Rare genetic disease +GARD:0015378,GARD:0022513,GARD:0006319,,Rare developmental defect during embryogenesis +GARD:0015378,GARD:0022531,GARD:0006319,,Rare genetic disease +GARD:0015378,GARD:0022511,GARD:0006319,,Rare bone disease +GARD:0015379,GARD:0022531,GARD:0009890,,Rare genetic disease +GARD:0015379,GARD:0022520,GARD:0009890,,Rare ophthalmic disorder +GARD:0015379,GARD:0022508,GARD:0009890,,Rare inborn errors of metabolism +GARD:0015380,GARD:0022524,GARD:0011918,,Rare neurologic disease +GARD:0015380,GARD:0022531,GARD:0011918,,Rare genetic disease +GARD:0015381,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0015381,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0015382,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015382,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015382,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015383,GARD:0022526,GARD:0012796,,Rare odontologic disease +GARD:0015383,GARD:0022531,GARD:0012796,,Rare genetic disease +GARD:0015384,GARD:0022529,GARD:0003314,,Rare infertility +GARD:0015384,GARD:0022514,GARD:0003314,,Rare gynecologic or obstetric disease +GARD:0015384,GARD:0022531,GARD:0003314,,Rare genetic disease +GARD:0015384,GARD:0022521,GARD:0003314,,Rare endocrine disease +GARD:0015384,GARD:0022524,GARD:0003314,,Rare neurologic disease +GARD:0015385,GARD:0022513,GARD:0003644,,Rare developmental defect during embryogenesis +GARD:0015385,GARD:0022531,GARD:0003644,,Rare genetic disease +GARD:0015385,GARD:0022520,GARD:0003644,,Rare ophthalmic disorder +GARD:0015386,GARD:0022531,GARD:0001613,,Rare genetic disease +GARD:0015386,GARD:0022520,GARD:0001613,,Rare ophthalmic disorder +GARD:0015386,GARD:0022524,GARD:0001613,,Rare neurologic disease +GARD:0015387,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0015387,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0015387,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0015387,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0015388,GARD:0022524,GARD:0007162,,Rare neurologic disease +GARD:0015389,GARD:0022531,GARD:0012860,,Rare genetic disease +GARD:0015389,GARD:0022524,GARD:0012860,,Rare neurologic disease +GARD:0015389,GARD:0022520,GARD:0012860,,Rare ophthalmic disorder +GARD:0015390,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0015390,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0015390,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0015390,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015390,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0015390,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0015390,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0015390,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0015390,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0015391,GARD:0022535,GARD:0008488,,Rare neoplastic disease +GARD:0015391,GARD:0022531,GARD:0008488,,Rare genetic disease +GARD:0015391,GARD:0022521,GARD:0008488,,Rare endocrine disease +GARD:0015392,GARD:0022531,GARD:0003697,,Rare genetic disease +GARD:0015392,GARD:0022521,GARD:0003697,,Rare endocrine disease +GARD:0015393,GARD:0022531,GARD:0017303,,Rare genetic disease +GARD:0015393,GARD:0022520,GARD:0009736,,Rare ophthalmic disorder +GARD:0015393,GARD:0022513,GARD:0010803,,Rare developmental defect during embryogenesis +GARD:0015393,GARD:0022520,GARD:0017303,,Rare ophthalmic disorder +GARD:0015393,GARD:0022513,GARD:0009736,,Rare developmental defect during embryogenesis +GARD:0015393,GARD:0022520,GARD:0010803,,Rare ophthalmic disorder +GARD:0015393,GARD:0022510,GARD:0009736,,Rare skin disease +GARD:0015393,GARD:0022531,GARD:0009736,,Rare genetic disease +GARD:0015393,GARD:0022531,GARD:0010803,,Rare genetic disease +GARD:0015393,GARD:0022513,GARD:0017303,,Rare developmental defect during embryogenesis +GARD:0015393,GARD:0022510,GARD:0017303,,Rare skin disease +GARD:0015393,GARD:0022510,GARD:0010803,,Rare skin disease +GARD:0015394,GARD:0022520,GARD:0008621,,Rare ophthalmic disorder +GARD:0015394,GARD:0022535,GARD:0008621,,Rare neoplastic disease +GARD:0015395,GARD:0022535,GARD:0008621,,Rare neoplastic disease +GARD:0015395,GARD:0022520,GARD:0008621,,Rare ophthalmic disorder +GARD:0015396,GARD:0022531,GARD:0005520,,Rare genetic disease +GARD:0015396,GARD:0022510,GARD:0005520,,Rare skin disease +GARD:0015396,GARD:0022513,GARD:0005520,,Rare developmental defect during embryogenesis +GARD:0015396,GARD:0022528,GARD:0005520,,Rare otorhinolaryngologic disease +GARD:0015397,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015397,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015397,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015398,GARD:0022531,GARD:0006319,,Rare genetic disease +GARD:0015398,GARD:0022511,GARD:0006319,,Rare bone disease +GARD:0015398,GARD:0022513,GARD:0006319,,Rare developmental defect during embryogenesis +GARD:0015399,GARD:0022531,GARD:0008562,,Rare genetic disease +GARD:0015399,GARD:0022511,GARD:0008562,,Rare bone disease +GARD:0015399,GARD:0022513,GARD:0008562,,Rare developmental defect during embryogenesis +GARD:0015399,GARD:0022524,GARD:0008562,,Rare neurologic disease +GARD:0015400,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015400,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015400,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015401,GARD:0022535,GARD:0004206,,Rare neoplastic disease +GARD:0015401,GARD:0022531,GARD:0004206,,Rare genetic disease +GARD:0015401,GARD:0022516,GARD:0004206,,Rare gastroenterologic disease +GARD:0015402,GARD:0022536,GARD:0006660,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015402,GARD:0022516,GARD:0006660,,Rare gastroenterologic disease +GARD:0015402,GARD:0022531,GARD:0006660,,Rare genetic disease +GARD:0015403,GARD:0022516,GARD:0006660,,Rare gastroenterologic disease +GARD:0015403,GARD:0022531,GARD:0006660,,Rare genetic disease +GARD:0015403,GARD:0022536,GARD:0006660,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015404,GARD:0022513,GARD:0005435,,Rare developmental defect during embryogenesis +GARD:0015404,GARD:0022531,GARD:0005435,,Rare genetic disease +GARD:0015404,GARD:0022520,GARD:0005435,,Rare ophthalmic disorder +GARD:0015404,GARD:0022528,GARD:0005435,,Rare otorhinolaryngologic disease +GARD:0015405,GARD:0022531,GARD:0000322,,Rare genetic disease +GARD:0015405,GARD:0022520,GARD:0000322,,Rare ophthalmic disorder +GARD:0015405,GARD:0022512,GARD:0000322,,Rare renal disease +GARD:0015405,GARD:0022536,GARD:0000322,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015406,GARD:0022536,GARD:0000322,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015406,GARD:0022531,GARD:0000322,,Rare genetic disease +GARD:0015406,GARD:0022512,GARD:0000322,,Rare renal disease +GARD:0015406,GARD:0022520,GARD:0000322,,Rare ophthalmic disorder +GARD:0015407,GARD:0022511,GARD:0000978,,Rare bone disease +GARD:0015407,GARD:0022513,GARD:0000978,,Rare developmental defect during embryogenesis +GARD:0015407,GARD:0022531,GARD:0000978,,Rare genetic disease +GARD:0015408,GARD:0022525,GARD:0002249,,Rare systemic or rheumatologic disease +GARD:0015408,GARD:0022527,GARD:0002249,,Rare circulatory system disease +GARD:0015408,GARD:0022531,GARD:0002249,,Rare genetic disease +GARD:0015408,GARD:0022518,GARD:0002249,,Rare surgical thoracic disease +GARD:0015409,GARD:0022525,GARD:0002249,,Rare systemic or rheumatologic disease +GARD:0015409,GARD:0022518,GARD:0002249,,Rare surgical thoracic disease +GARD:0015409,GARD:0022527,GARD:0002249,,Rare circulatory system disease +GARD:0015409,GARD:0022531,GARD:0002249,,Rare genetic disease +GARD:0015410,GARD:0022524,GARD:0007064,,Rare neurologic disease +GARD:0015411,GARD:0022511,GARD:0010620,,Rare bone disease +GARD:0015411,GARD:0022531,GARD:0010620,,Rare genetic disease +GARD:0015411,GARD:0022513,GARD:0010620,,Rare developmental defect during embryogenesis +GARD:0015412,GARD:0022521,GARD:0002498,,Rare endocrine disease +GARD:0015412,GARD:0022531,GARD:0002498,,Rare genetic disease +GARD:0015412,GARD:0022524,GARD:0002498,,Rare neurologic disease +GARD:0015413,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015413,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015413,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015414,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0015414,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0015415,GARD:0022524,GARD:0006886,,Rare neurologic disease +GARD:0015415,GARD:0022509,GARD:0006886,,Rare infectious disease +GARD:0015415,GARD:0022529,GARD:0006886,,Rare infertility +GARD:0015416,GARD:0022513,GARD:0010704,,Rare developmental defect during embryogenesis +GARD:0015416,GARD:0022531,GARD:0010704,,Rare genetic disease +GARD:0015416,GARD:0022524,GARD:0010704,,Rare neurologic disease +GARD:0015417,GARD:0022510,GARD:0001039,,Rare skin disease +GARD:0015417,GARD:0022531,GARD:0001039,,Rare genetic disease +GARD:0015418,GARD:0022531,GARD:0001077,,Rare genetic disease +GARD:0015418,GARD:0022523,GARD:0001077,,Rare immune disease +GARD:0015418,GARD:0022510,GARD:0001077,,Rare skin disease +GARD:0015420,GARD:0022510,GARD:0012827,,Rare skin disease +GARD:0015420,GARD:0022536,GARD:0012827,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015420,GARD:0022527,GARD:0012827,,Rare circulatory system disease +GARD:0015420,GARD:0022531,GARD:0012827,,Rare genetic disease +GARD:0015420,GARD:0022513,GARD:0012827,,Rare developmental defect during embryogenesis +GARD:0015420,GARD:0022512,GARD:0012827,,Rare renal disease +GARD:0015421,GARD:0022519,GARD:0003687,,Rare surgical cardiac disease +GARD:0015421,GARD:0022513,GARD:0003687,,Rare developmental defect during embryogenesis +GARD:0015421,GARD:0022531,GARD:0003687,,Rare genetic disease +GARD:0015422,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0015422,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015422,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0015423,GARD:0022531,GARD:0009170,,Rare genetic disease +GARD:0015423,GARD:0022510,GARD:0009170,,Rare skin disease +GARD:0015424,GARD:0022513,GARD:0012724,,Rare developmental defect during embryogenesis +GARD:0015424,GARD:0022531,GARD:0012724,,Rare genetic disease +GARD:0015424,GARD:0022524,GARD:0012724,,Rare neurologic disease +GARD:0015425,GARD:0022531,GARD:0012724,,Rare genetic disease +GARD:0015425,GARD:0022524,GARD:0012724,,Rare neurologic disease +GARD:0015425,GARD:0022513,GARD:0012724,,Rare developmental defect during embryogenesis +GARD:0015426,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0015426,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0015427,GARD:0022531,GARD:0001519,,Rare genetic disease +GARD:0015427,GARD:0022524,GARD:0001519,,Rare neurologic disease +GARD:0015428,GARD:0022511,GARD:0004936,,Rare bone disease +GARD:0015428,GARD:0022520,GARD:0004936,,Rare ophthalmic disorder +GARD:0015428,GARD:0022513,GARD:0004936,,Rare developmental defect during embryogenesis +GARD:0015428,GARD:0022531,GARD:0004936,,Rare genetic disease +GARD:0015429,GARD:0022531,GARD:0007148,,Rare genetic disease +GARD:0015429,GARD:0022524,GARD:0007148,,Rare neurologic disease +GARD:0015430,GARD:0022528,GARD:0010148,,Rare otorhinolaryngologic disease +GARD:0015430,GARD:0022513,GARD:0010148,,Rare developmental defect during embryogenesis +GARD:0015430,GARD:0022531,GARD:0010148,,Rare genetic disease +GARD:0015431,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0015431,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0015431,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0015431,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0015432,GARD:0022516,GARD:0006660,,Rare gastroenterologic disease +GARD:0015432,GARD:0022536,GARD:0006660,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015432,GARD:0022531,GARD:0006660,,Rare genetic disease +GARD:0015434,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015434,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015434,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015435,GARD:0022520,GARD:0010168,,Rare ophthalmic disorder +GARD:0015435,GARD:0022513,GARD:0010168,,Rare developmental defect during embryogenesis +GARD:0015435,GARD:0022531,GARD:0010168,,Rare genetic disease +GARD:0015435,GARD:0022524,GARD:0010168,,Rare neurologic disease +GARD:0015436,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015436,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015436,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015437,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015437,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015437,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015438,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015438,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015438,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015439,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015439,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015439,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015440,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015440,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015440,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015441,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0015441,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0015441,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0015441,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0015442,GARD:0022524,GARD:0007064,,Rare neurologic disease +GARD:0015443,GARD:0022524,GARD:0006808,,Rare neurologic disease +GARD:0015443,GARD:0022531,GARD:0006808,,Rare genetic disease +GARD:0015444,GARD:0022510,GARD:0005520,,Rare skin disease +GARD:0015444,GARD:0022528,GARD:0005520,,Rare otorhinolaryngologic disease +GARD:0015444,GARD:0022513,GARD:0005520,,Rare developmental defect during embryogenesis +GARD:0015444,GARD:0022531,GARD:0005520,,Rare genetic disease +GARD:0015445,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0015445,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0015445,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0015445,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0015446,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0015446,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0015447,GARD:0022524,GARD:0007162,,Rare neurologic disease +GARD:0015448,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0015448,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015448,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0015448,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0015448,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0015448,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0015448,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0015448,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0015448,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0015449,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0015449,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0015449,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0015449,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0015449,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0015449,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0015449,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0015449,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0015449,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015450,GARD:0022524,GARD:0002498,,Rare neurologic disease +GARD:0015450,GARD:0022531,GARD:0002498,,Rare genetic disease +GARD:0015450,GARD:0022521,GARD:0002498,,Rare endocrine disease +GARD:0015451,GARD:0022536,GARD:0000322,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015451,GARD:0022520,GARD:0000322,,Rare ophthalmic disorder +GARD:0015451,GARD:0022512,GARD:0000322,,Rare renal disease +GARD:0015451,GARD:0022531,GARD:0000322,,Rare genetic disease +GARD:0015452,GARD:0022524,GARD:0007171,,Rare neurologic disease +GARD:0015452,GARD:0022531,GARD:0007171,,Rare genetic disease +GARD:0015453,GARD:0022531,GARD:0007171,,Rare genetic disease +GARD:0015453,GARD:0022531,GARD:0012823,,Rare genetic disease +GARD:0015453,GARD:0022524,GARD:0007171,,Rare neurologic disease +GARD:0015453,GARD:0022524,GARD:0012823,,Rare neurologic disease +GARD:0015454,GARD:0022531,GARD:0012822,,Rare genetic disease +GARD:0015454,GARD:0022524,GARD:0007171,,Rare neurologic disease +GARD:0015454,GARD:0022531,GARD:0007171,,Rare genetic disease +GARD:0015454,GARD:0022524,GARD:0012822,,Rare neurologic disease +GARD:0015455,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015455,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015455,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015456,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0015456,GARD:0022531,GARD:0016581,,Rare genetic disease +GARD:0015456,GARD:0022524,GARD:0016581,,Rare neurologic disease +GARD:0015456,GARD:0022508,GARD:0016581,,Rare inborn errors of metabolism +GARD:0015456,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0015457,GARD:0022531,GARD:0009905,,Rare genetic disease +GARD:0015457,GARD:0022535,GARD:0009905,,Rare neoplastic disease +GARD:0015457,GARD:0022516,GARD:0009905,,Rare gastroenterologic disease +GARD:0015458,GARD:0022512,GARD:0003436,,Rare renal disease +GARD:0015458,GARD:0022524,GARD:0003436,,Rare neurologic disease +GARD:0015458,GARD:0022531,GARD:0003436,,Rare genetic disease +GARD:0015458,GARD:0022536,GARD:0003436,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015458,GARD:0022511,GARD:0003436,,Rare bone disease +GARD:0015458,GARD:0022513,GARD:0003436,,Rare developmental defect during embryogenesis +GARD:0015458,GARD:0022520,GARD:0003436,,Rare ophthalmic disorder +GARD:0015458,GARD:0022534,GARD:0003436,,Rare abdominal surgical disease +GARD:0015458,GARD:0022507,GARD:0003436,,Rare maxillo-facial surgical disease +GARD:0015458,GARD:0022528,GARD:0003436,,Rare otorhinolaryngologic disease +GARD:0015459,GARD:0022513,GARD:0012590,,Rare developmental defect during embryogenesis +GARD:0015459,GARD:0022520,GARD:0012590,,Rare ophthalmic disorder +GARD:0015459,GARD:0022524,GARD:0012590,,Rare neurologic disease +GARD:0015459,GARD:0022531,GARD:0012590,,Rare genetic disease +GARD:0015460,GARD:0022531,GARD:0010985,,Rare genetic disease +GARD:0015460,GARD:0022515,GARD:0010985,,Rare cardiac disease +GARD:0015461,GARD:0022511,GARD:0005018,,Rare bone disease +GARD:0015461,GARD:0022507,GARD:0005018,,Rare maxillo-facial surgical disease +GARD:0015461,GARD:0022528,GARD:0005018,,Rare otorhinolaryngologic disease +GARD:0015461,GARD:0022531,GARD:0005018,,Rare genetic disease +GARD:0015461,GARD:0022513,GARD:0005018,,Rare developmental defect during embryogenesis +GARD:0015461,GARD:0022520,GARD:0005018,,Rare ophthalmic disorder +GARD:0015462,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015462,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015462,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015463,GARD:0022524,GARD:0005648,,Rare neurologic disease +GARD:0015464,GARD:0022524,GARD:0005648,,Rare neurologic disease +GARD:0015465,GARD:0022512,GARD:0010169,,Rare renal disease +GARD:0015465,GARD:0022513,GARD:0010169,,Rare developmental defect during embryogenesis +GARD:0015465,GARD:0022536,GARD:0010169,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015465,GARD:0022520,GARD:0010169,,Rare ophthalmic disorder +GARD:0015465,GARD:0022524,GARD:0010169,,Rare neurologic disease +GARD:0015465,GARD:0022531,GARD:0010169,,Rare genetic disease +GARD:0015466,GARD:0022520,GARD:0012590,,Rare ophthalmic disorder +GARD:0015466,GARD:0022513,GARD:0012590,,Rare developmental defect during embryogenesis +GARD:0015466,GARD:0022524,GARD:0012590,,Rare neurologic disease +GARD:0015466,GARD:0022531,GARD:0012590,,Rare genetic disease +GARD:0015467,GARD:0022522,GARD:0006104,,Rare hematologic disease +GARD:0015467,GARD:0022535,GARD:0006104,,Rare neoplastic disease +GARD:0015467,GARD:0022536,GARD:0006104,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015469,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015469,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015469,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015470,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015470,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015470,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015471,GARD:0022520,GARD:0003644,,Rare ophthalmic disorder +GARD:0015471,GARD:0022513,GARD:0003644,,Rare developmental defect during embryogenesis +GARD:0015471,GARD:0022531,GARD:0003644,,Rare genetic disease +GARD:0015472,GARD:0022525,GARD:0000575,,Rare systemic or rheumatologic disease +GARD:0015472,GARD:0022524,GARD:0000575,,Rare neurologic disease +GARD:0015472,GARD:0021079,GARD:0000575,,Rare systemic or rheumatological disease of childhood +GARD:0015472,GARD:0022531,GARD:0000575,,Rare genetic disease +GARD:0015472,GARD:0022523,GARD:0000575,,Rare immune disease +GARD:0015473,GARD:0022524,GARD:0001998,,Rare neurologic disease +GARD:0015473,GARD:0022531,GARD:0001998,,Rare genetic disease +GARD:0015474,GARD:0022518,GARD:0001481,,Rare surgical thoracic disease +GARD:0015474,GARD:0022517,GARD:0001481,,Rare respiratory disease +GARD:0015474,GARD:0022513,GARD:0001481,,Rare developmental defect during embryogenesis +GARD:0015474,GARD:0022534,GARD:0001481,,Rare abdominal surgical disease +GARD:0015475,GARD:0022513,GARD:0009455,,Rare developmental defect during embryogenesis +GARD:0015475,GARD:0022524,GARD:0009455,,Rare neurologic disease +GARD:0015475,GARD:0022512,GARD:0009455,,Rare renal disease +GARD:0015475,GARD:0022520,GARD:0009455,,Rare ophthalmic disorder +GARD:0015475,GARD:0022536,GARD:0009455,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015475,GARD:0022531,GARD:0009455,,Rare genetic disease +GARD:0015476,GARD:0022531,GARD:0000322,,Rare genetic disease +GARD:0015476,GARD:0022536,GARD:0000322,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015476,GARD:0022512,GARD:0000322,,Rare renal disease +GARD:0015476,GARD:0022520,GARD:0000322,,Rare ophthalmic disorder +GARD:0015477,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0015477,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0015478,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015478,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015478,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015479,GARD:0022524,GARD:0000575,,Rare neurologic disease +GARD:0015479,GARD:0021079,GARD:0000575,,Rare systemic or rheumatological disease of childhood +GARD:0015479,GARD:0022523,GARD:0000575,,Rare immune disease +GARD:0015479,GARD:0022525,GARD:0000575,,Rare systemic or rheumatologic disease +GARD:0015479,GARD:0022531,GARD:0000575,,Rare genetic disease +GARD:0015480,GARD:0022524,GARD:0000575,,Rare neurologic disease +GARD:0015480,GARD:0022525,GARD:0000575,,Rare systemic or rheumatologic disease +GARD:0015480,GARD:0022523,GARD:0000575,,Rare immune disease +GARD:0015480,GARD:0022531,GARD:0000575,,Rare genetic disease +GARD:0015480,GARD:0021079,GARD:0000575,,Rare systemic or rheumatological disease of childhood +GARD:0015481,GARD:0022524,GARD:0011918,,Rare neurologic disease +GARD:0015481,GARD:0022531,GARD:0011918,,Rare genetic disease +GARD:0015482,GARD:0022521,GARD:0001839,,Rare endocrine disease +GARD:0015482,GARD:0022531,GARD:0001839,,Rare genetic disease +GARD:0015483,GARD:0022509,GARD:0009959,,Rare infectious disease +GARD:0015483,GARD:0022524,GARD:0009959,,Rare neurologic disease +GARD:0015484,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0015484,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0015485,GARD:0022531,GARD:0003995,,Rare genetic disease +GARD:0015485,GARD:0022520,GARD:0003995,,Rare ophthalmic disorder +GARD:0015486,GARD:0022536,GARD:0007872,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015486,GARD:0022522,GARD:0007872,,Rare hematologic disease +GARD:0015486,GARD:0022524,GARD:0007872,,Rare neurologic disease +GARD:0015486,GARD:0022535,GARD:0007872,,Rare neoplastic disease +GARD:0015487,GARD:0022531,GARD:0003995,,Rare genetic disease +GARD:0015487,GARD:0022520,GARD:0003995,,Rare ophthalmic disorder +GARD:0015488,GARD:0022520,GARD:0003995,,Rare ophthalmic disorder +GARD:0015488,GARD:0022531,GARD:0003995,,Rare genetic disease +GARD:0015489,GARD:0022529,GARD:0010906,,Rare infertility +GARD:0015489,GARD:0022531,GARD:0010906,,Rare genetic disease +GARD:0015489,GARD:0022521,GARD:0010906,,Rare endocrine disease +GARD:0015490,GARD:0022531,GARD:0001839,,Rare genetic disease +GARD:0015490,GARD:0022521,GARD:0001839,,Rare endocrine disease +GARD:0015492,GARD:0022531,GARD:0001369,,Rare genetic disease +GARD:0015492,GARD:0022528,GARD:0001369,,Rare otorhinolaryngologic disease +GARD:0015492,GARD:0022513,GARD:0001369,,Rare developmental defect during embryogenesis +GARD:0015492,GARD:0022507,GARD:0001369,,Rare maxillo-facial surgical disease +GARD:0015492,GARD:0022511,GARD:0001369,,Rare bone disease +GARD:0015493,GARD:0022524,GARD:0012822,,Rare neurologic disease +GARD:0015493,GARD:0022531,GARD:0012822,,Rare genetic disease +GARD:0015494,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0015494,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0015494,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0015494,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0015495,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015495,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0015495,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0015496,GARD:0022510,GARD:0000613,,Rare skin disease +GARD:0015496,GARD:0022510,GARD:0000614,,Rare skin disease +GARD:0015496,GARD:0022531,GARD:0000614,,Rare genetic disease +GARD:0015497,GARD:0022528,GARD:0006027,,Rare otorhinolaryngologic disease +GARD:0015497,GARD:0022510,GARD:0006027,,Rare skin disease +GARD:0015497,GARD:0022524,GARD:0006027,,Rare neurologic disease +GARD:0015497,GARD:0022513,GARD:0006027,,Rare developmental defect during embryogenesis +GARD:0015497,GARD:0022535,GARD:0006027,,Rare neoplastic disease +GARD:0015497,GARD:0022520,GARD:0006027,,Rare ophthalmic disorder +GARD:0015497,GARD:0022531,GARD:0006027,,Rare genetic disease +GARD:0015498,GARD:0022535,GARD:0006027,,Rare neoplastic disease +GARD:0015498,GARD:0022524,GARD:0006027,,Rare neurologic disease +GARD:0015498,GARD:0022510,GARD:0006027,,Rare skin disease +GARD:0015498,GARD:0022531,GARD:0006027,,Rare genetic disease +GARD:0015498,GARD:0022513,GARD:0006027,,Rare developmental defect during embryogenesis +GARD:0015498,GARD:0022528,GARD:0006027,,Rare otorhinolaryngologic disease +GARD:0015498,GARD:0022520,GARD:0006027,,Rare ophthalmic disorder +GARD:0015499,GARD:0022511,GARD:0010109,,Rare bone disease +GARD:0015499,GARD:0022528,GARD:0010109,,Rare otorhinolaryngologic disease +GARD:0015499,GARD:0022513,GARD:0010109,,Rare developmental defect during embryogenesis +GARD:0015499,GARD:0022534,GARD:0010109,,Rare abdominal surgical disease +GARD:0015499,GARD:0022507,GARD:0010109,,Rare maxillo-facial surgical disease +GARD:0015499,GARD:0022531,GARD:0010109,,Rare genetic disease +GARD:0015499,GARD:0022524,GARD:0010109,,Rare neurologic disease +GARD:0015499,GARD:0022518,GARD:0010109,,Rare surgical thoracic disease +GARD:0015499,GARD:0022520,GARD:0010109,,Rare ophthalmic disorder +GARD:0015500,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0015500,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0015500,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015500,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0015500,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0015500,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0015500,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0015500,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0015500,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0015501,GARD:0022531,GARD:0003687,,Rare genetic disease +GARD:0015501,GARD:0022513,GARD:0003687,,Rare developmental defect during embryogenesis +GARD:0015501,GARD:0022519,GARD:0003687,,Rare surgical cardiac disease +GARD:0015502,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015502,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015502,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015503,GARD:0022507,GARD:0010147,,Rare maxillo-facial surgical disease +GARD:0015503,GARD:0022528,GARD:0010147,,Rare otorhinolaryngologic disease +GARD:0015503,GARD:0022531,GARD:0010147,,Rare genetic disease +GARD:0015503,GARD:0022536,GARD:0010147,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015503,GARD:0022513,GARD:0010147,,Rare developmental defect during embryogenesis +GARD:0015503,GARD:0022512,GARD:0010147,,Rare renal disease +GARD:0015503,GARD:0022511,GARD:0010147,,Rare bone disease +GARD:0015504,GARD:0022529,GARD:0006886,,Rare infertility +GARD:0015504,GARD:0022509,GARD:0006886,,Rare infectious disease +GARD:0015504,GARD:0022524,GARD:0006886,,Rare neurologic disease +GARD:0015505,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015505,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015505,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015506,GARD:0022524,GARD:0008721,,Rare neurologic disease +GARD:0015506,GARD:0022531,GARD:0008721,,Rare genetic disease +GARD:0015507,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015507,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015507,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015508,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015508,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015508,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015509,GARD:0022531,GARD:0003436,,Rare genetic disease +GARD:0015509,GARD:0022536,GARD:0003436,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015509,GARD:0022512,GARD:0003436,,Rare renal disease +GARD:0015509,GARD:0022520,GARD:0003436,,Rare ophthalmic disorder +GARD:0015509,GARD:0022513,GARD:0003436,,Rare developmental defect during embryogenesis +GARD:0015509,GARD:0022507,GARD:0003436,,Rare maxillo-facial surgical disease +GARD:0015509,GARD:0022528,GARD:0003436,,Rare otorhinolaryngologic disease +GARD:0015509,GARD:0022524,GARD:0003436,,Rare neurologic disease +GARD:0015509,GARD:0022534,GARD:0003436,,Rare abdominal surgical disease +GARD:0015509,GARD:0022511,GARD:0003436,,Rare bone disease +GARD:0015510,GARD:0022531,GARD:0008722,,Rare genetic disease +GARD:0015510,GARD:0022524,GARD:0008722,,Rare neurologic disease +GARD:0015511,GARD:0022517,GARD:0003049,,Rare respiratory disease +GARD:0015511,GARD:0022531,GARD:0003049,,Rare genetic disease +GARD:0015511,GARD:0022512,GARD:0003049,,Rare renal disease +GARD:0015511,GARD:0022536,GARD:0003049,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015511,GARD:0022513,GARD:0003049,,Rare developmental defect during embryogenesis +GARD:0015511,GARD:0022511,GARD:0003049,,Rare bone disease +GARD:0015512,GARD:0022513,GARD:0005865,,Rare developmental defect during embryogenesis +GARD:0015512,GARD:0022531,GARD:0005865,,Rare genetic disease +GARD:0015512,GARD:0022519,GARD:0005865,,Rare surgical cardiac disease +GARD:0015513,GARD:0022524,GARD:0006808,,Rare neurologic disease +GARD:0015513,GARD:0022531,GARD:0006808,,Rare genetic disease +GARD:0015514,GARD:0022513,GARD:0005440,,Rare developmental defect during embryogenesis +GARD:0015514,GARD:0022528,GARD:0005440,,Rare otorhinolaryngologic disease +GARD:0015514,GARD:0022520,GARD:0005440,,Rare ophthalmic disorder +GARD:0015514,GARD:0022531,GARD:0005440,,Rare genetic disease +GARD:0015515,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015515,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015515,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015516,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0015516,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0015517,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0015517,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0015518,GARD:0022531,GARD:0001100,,Rare genetic disease +GARD:0015518,GARD:0022515,GARD:0001100,,Rare cardiac disease +GARD:0015518,GARD:0022519,GARD:0001100,,Rare surgical cardiac disease +GARD:0015518,GARD:0022528,GARD:0001100,,Rare otorhinolaryngologic disease +GARD:0015518,GARD:0022513,GARD:0001100,,Rare developmental defect during embryogenesis +GARD:0015518,GARD:0022535,GARD:0001100,,Rare neoplastic disease +GARD:0015518,GARD:0022536,GARD:0001100,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015518,GARD:0022510,GARD:0001100,,Rare skin disease +GARD:0015519,GARD:0022524,GARD:0010169,,Rare neurologic disease +GARD:0015519,GARD:0022531,GARD:0010169,,Rare genetic disease +GARD:0015519,GARD:0022513,GARD:0010169,,Rare developmental defect during embryogenesis +GARD:0015519,GARD:0022520,GARD:0010169,,Rare ophthalmic disorder +GARD:0015519,GARD:0022512,GARD:0010169,,Rare renal disease +GARD:0015519,GARD:0022536,GARD:0010169,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015520,GARD:0022513,GARD:0003436,,Rare developmental defect during embryogenesis +GARD:0015520,GARD:0022520,GARD:0003436,,Rare ophthalmic disorder +GARD:0015520,GARD:0022531,GARD:0003436,,Rare genetic disease +GARD:0015520,GARD:0022528,GARD:0003436,,Rare otorhinolaryngologic disease +GARD:0015520,GARD:0022507,GARD:0003436,,Rare maxillo-facial surgical disease +GARD:0015520,GARD:0022536,GARD:0003436,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015520,GARD:0022512,GARD:0003436,,Rare renal disease +GARD:0015520,GARD:0022534,GARD:0003436,,Rare abdominal surgical disease +GARD:0015520,GARD:0022524,GARD:0003436,,Rare neurologic disease +GARD:0015520,GARD:0022511,GARD:0003436,,Rare bone disease +GARD:0015521,GARD:0022531,GARD:0005520,,Rare genetic disease +GARD:0015521,GARD:0022513,GARD:0005520,,Rare developmental defect during embryogenesis +GARD:0015521,GARD:0022510,GARD:0005520,,Rare skin disease +GARD:0015521,GARD:0022528,GARD:0005520,,Rare otorhinolaryngologic disease +GARD:0015522,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015522,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015522,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015523,GARD:0022524,GARD:0005135,,Rare neurologic disease +GARD:0015523,GARD:0022531,GARD:0005135,,Rare genetic disease +GARD:0015524,GARD:0022531,GARD:0003644,,Rare genetic disease +GARD:0015524,GARD:0022520,GARD:0003644,,Rare ophthalmic disorder +GARD:0015524,GARD:0022513,GARD:0003644,,Rare developmental defect during embryogenesis +GARD:0015525,GARD:0022516,GARD:0006660,,Rare gastroenterologic disease +GARD:0015525,GARD:0022536,GARD:0006660,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015525,GARD:0022531,GARD:0006660,,Rare genetic disease +GARD:0015526,GARD:0022515,GARD:0001030,,Rare cardiac disease +GARD:0015526,GARD:0022531,GARD:0001030,,Rare genetic disease +GARD:0015527,GARD:0022531,GARD:0002249,,Rare genetic disease +GARD:0015527,GARD:0022527,GARD:0002249,,Rare circulatory system disease +GARD:0015527,GARD:0022525,GARD:0002249,,Rare systemic or rheumatologic disease +GARD:0015527,GARD:0022518,GARD:0002249,,Rare surgical thoracic disease +GARD:0015528,GARD:0022531,GARD:0006621,,Rare genetic disease +GARD:0015528,GARD:0022522,GARD:0006621,,Rare hematologic disease +GARD:0015529,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015529,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015529,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015530,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015530,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015530,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015531,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015531,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015531,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015532,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015532,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015532,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015533,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015533,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015533,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015534,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015534,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015534,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015535,GARD:0022531,GARD:0004421,,Rare genetic disease +GARD:0015535,GARD:0022515,GARD:0004421,,Rare cardiac disease +GARD:0015536,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015536,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015536,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015537,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015537,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015537,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015538,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015538,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015538,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015539,GARD:0022531,GARD:0010294,,Rare genetic disease +GARD:0015539,GARD:0022524,GARD:0010294,,Rare neurologic disease +GARD:0015539,GARD:0022508,GARD:0010294,,Rare inborn errors of metabolism +GARD:0015540,GARD:0022531,GARD:0017273,,Rare genetic disease +GARD:0015540,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0015540,GARD:0022524,GARD:0017273,,Rare neurologic disease +GARD:0015541,GARD:0022536,GARD:0009496,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015541,GARD:0022531,GARD:0009496,,Rare genetic disease +GARD:0015541,GARD:0022512,GARD:0009496,,Rare renal disease +GARD:0015542,GARD:0022510,GARD:0009936,,Rare skin disease +GARD:0015542,GARD:0022526,GARD:0009936,,Rare odontologic disease +GARD:0015542,GARD:0022513,GARD:0009936,,Rare developmental defect during embryogenesis +GARD:0015542,GARD:0022523,GARD:0009936,,Rare immune disease +GARD:0015542,GARD:0022531,GARD:0009936,,Rare genetic disease +GARD:0015542,GARD:0022520,GARD:0009936,,Rare ophthalmic disorder +GARD:0015542,GARD:0022536,GARD:0009936,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015543,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015543,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015543,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015544,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0015544,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0015545,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0015545,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0015546,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015546,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015546,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015547,GARD:0022510,GARD:0009736,,Rare skin disease +GARD:0015547,GARD:0022510,GARD:0010803,,Rare skin disease +GARD:0015547,GARD:0022520,GARD:0009736,,Rare ophthalmic disorder +GARD:0015547,GARD:0022520,GARD:0010803,,Rare ophthalmic disorder +GARD:0015547,GARD:0022531,GARD:0010803,,Rare genetic disease +GARD:0015547,GARD:0022531,GARD:0009736,,Rare genetic disease +GARD:0015547,GARD:0022513,GARD:0010803,,Rare developmental defect during embryogenesis +GARD:0015547,GARD:0022513,GARD:0009736,,Rare developmental defect during embryogenesis +GARD:0015548,GARD:0022531,GARD:0003436,,Rare genetic disease +GARD:0015548,GARD:0022534,GARD:0003436,,Rare abdominal surgical disease +GARD:0015548,GARD:0022520,GARD:0003436,,Rare ophthalmic disorder +GARD:0015548,GARD:0022528,GARD:0003436,,Rare otorhinolaryngologic disease +GARD:0015548,GARD:0022507,GARD:0003436,,Rare maxillo-facial surgical disease +GARD:0015548,GARD:0022511,GARD:0003436,,Rare bone disease +GARD:0015548,GARD:0022536,GARD:0003436,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015548,GARD:0022513,GARD:0003436,,Rare developmental defect during embryogenesis +GARD:0015548,GARD:0022524,GARD:0003436,,Rare neurologic disease +GARD:0015548,GARD:0022512,GARD:0003436,,Rare renal disease +GARD:0015549,GARD:0022524,GARD:0009455,,Rare neurologic disease +GARD:0015549,GARD:0022513,GARD:0009455,,Rare developmental defect during embryogenesis +GARD:0015549,GARD:0022520,GARD:0009455,,Rare ophthalmic disorder +GARD:0015549,GARD:0022512,GARD:0009455,,Rare renal disease +GARD:0015549,GARD:0022531,GARD:0009455,,Rare genetic disease +GARD:0015549,GARD:0022536,GARD:0009455,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015550,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0015550,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0015550,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0015550,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0015551,GARD:0022510,GARD:0010983,,Rare skin disease +GARD:0015551,GARD:0022531,GARD:0010983,,Rare genetic disease +GARD:0015552,GARD:0022531,GARD:0010983,,Rare genetic disease +GARD:0015552,GARD:0022510,GARD:0010983,,Rare skin disease +GARD:0015553,GARD:0022513,GARD:0010705,,Rare developmental defect during embryogenesis +GARD:0015553,GARD:0022524,GARD:0010705,,Rare neurologic disease +GARD:0015553,GARD:0022531,GARD:0010705,,Rare genetic disease +GARD:0015554,GARD:0022513,GARD:0010705,,Rare developmental defect during embryogenesis +GARD:0015554,GARD:0022531,GARD:0010705,,Rare genetic disease +GARD:0015554,GARD:0022524,GARD:0010705,,Rare neurologic disease +GARD:0015555,GARD:0022524,GARD:0007162,,Rare neurologic disease +GARD:0015556,GARD:0022531,GARD:0003876,,Rare genetic disease +GARD:0015556,GARD:0022524,GARD:0003876,,Rare neurologic disease +GARD:0015557,GARD:0022531,GARD:0010917,,Rare genetic disease +GARD:0015557,GARD:0022524,GARD:0010917,,Rare neurologic disease +GARD:0015558,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015558,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015558,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015559,GARD:0022536,GARD:0005528,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015559,GARD:0022532,GARD:0005528,,Rare urogenital disease +GARD:0015559,GARD:0022513,GARD:0005528,,Rare developmental defect during embryogenesis +GARD:0015559,GARD:0022521,GARD:0005528,,Rare endocrine disease +GARD:0015559,GARD:0022524,GARD:0005528,,Rare neurologic disease +GARD:0015559,GARD:0022520,GARD:0005528,,Rare ophthalmic disorder +GARD:0015559,GARD:0022514,GARD:0005528,,Rare gynecologic or obstetric disease +GARD:0015559,GARD:0022531,GARD:0005528,,Rare genetic disease +GARD:0015559,GARD:0022512,GARD:0005528,,Rare renal disease +GARD:0015559,GARD:0022535,GARD:0005528,,Rare neoplastic disease +GARD:0015560,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015560,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015560,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015561,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0015561,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0015561,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0015561,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015561,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0015561,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0015561,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0015561,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0015561,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0015562,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015562,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0015562,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0015562,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0015562,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0015562,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0015562,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0015562,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0015562,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0015563,GARD:0022531,GARD:0008349,,Rare genetic disease +GARD:0015563,GARD:0022526,GARD:0008349,,Rare odontologic disease +GARD:0015564,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0015564,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015564,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0015565,GARD:0022535,GARD:0006104,,Rare neoplastic disease +GARD:0015565,GARD:0022536,GARD:0006104,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015565,GARD:0022522,GARD:0006104,,Rare hematologic disease +GARD:0015566,GARD:0022536,GARD:0006104,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015566,GARD:0022522,GARD:0006104,,Rare hematologic disease +GARD:0015566,GARD:0022535,GARD:0006104,,Rare neoplastic disease +GARD:0015567,GARD:0022522,GARD:0006104,,Rare hematologic disease +GARD:0015567,GARD:0022535,GARD:0006104,,Rare neoplastic disease +GARD:0015567,GARD:0022536,GARD:0006104,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015568,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0015568,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0015568,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015568,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0015568,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0015568,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0015568,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0015568,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0015568,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0015569,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0015569,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0015569,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0015569,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0015569,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0015569,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0015569,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0015569,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015569,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0015570,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015570,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0015570,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0015570,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0015570,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0015570,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0015570,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0015570,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0015570,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0015571,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015571,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015571,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015572,GARD:0022511,GARD:0001369,,Rare bone disease +GARD:0015572,GARD:0022531,GARD:0001369,,Rare genetic disease +GARD:0015572,GARD:0022507,GARD:0001369,,Rare maxillo-facial surgical disease +GARD:0015572,GARD:0022513,GARD:0001369,,Rare developmental defect during embryogenesis +GARD:0015572,GARD:0022528,GARD:0001369,,Rare otorhinolaryngologic disease +GARD:0015573,GARD:0022513,GARD:0005435,,Rare developmental defect during embryogenesis +GARD:0015573,GARD:0022528,GARD:0005435,,Rare otorhinolaryngologic disease +GARD:0015573,GARD:0022520,GARD:0005435,,Rare ophthalmic disorder +GARD:0015573,GARD:0022531,GARD:0005435,,Rare genetic disease +GARD:0015574,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015574,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015574,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015575,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015575,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015575,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015576,GARD:0022522,GARD:0006639,,Rare hematologic disease +GARD:0015576,GARD:0022531,GARD:0006639,,Rare genetic disease +GARD:0015577,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0015577,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0015578,GARD:0022522,GARD:0006639,,Rare hematologic disease +GARD:0015578,GARD:0022531,GARD:0006639,,Rare genetic disease +GARD:0015579,GARD:0022531,GARD:0009640,,Rare genetic disease +GARD:0015579,GARD:0022523,GARD:0009640,,Rare immune disease +GARD:0015580,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0015580,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0015580,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0015580,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0015581,GARD:0022510,GARD:0001996,,Rare skin disease +GARD:0015581,GARD:0022531,GARD:0001996,,Rare genetic disease +GARD:0015582,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0015582,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0015583,GARD:0022513,GARD:0009798,,Rare developmental defect during embryogenesis +GARD:0015583,GARD:0022531,GARD:0009798,,Rare genetic disease +GARD:0015583,GARD:0022511,GARD:0009798,,Rare bone disease +GARD:0015583,GARD:0022528,GARD:0009798,,Rare otorhinolaryngologic disease +GARD:0015583,GARD:0022507,GARD:0009798,,Rare maxillo-facial surgical disease +GARD:0015584,GARD:0022515,GARD:0001030,,Rare cardiac disease +GARD:0015584,GARD:0022531,GARD:0001030,,Rare genetic disease +GARD:0015585,GARD:0022510,GARD:0003390,,Rare skin disease +GARD:0015585,GARD:0022531,GARD:0003390,,Rare genetic disease +GARD:0015586,GARD:0022510,GARD:0006829,,Rare skin disease +GARD:0015586,GARD:0022531,GARD:0006829,,Rare genetic disease +GARD:0015587,GARD:0022524,GARD:0007162,,Rare neurologic disease +GARD:0015588,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015588,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015588,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015589,GARD:0022524,GARD:0012724,,Rare neurologic disease +GARD:0015589,GARD:0022531,GARD:0012724,,Rare genetic disease +GARD:0015589,GARD:0022513,GARD:0012724,,Rare developmental defect during embryogenesis +GARD:0015590,GARD:0022531,GARD:0015016,,Rare genetic disease +GARD:0015590,GARD:0022510,GARD:0015016,,Rare skin disease +GARD:0015591,GARD:0022513,GARD:0005667,,Rare developmental defect during embryogenesis +GARD:0015591,GARD:0022531,GARD:0005667,,Rare genetic disease +GARD:0015591,GARD:0022511,GARD:0005667,,Rare bone disease +GARD:0015592,GARD:0022531,GARD:0010999,,Rare genetic disease +GARD:0015592,GARD:0022524,GARD:0010999,,Rare neurologic disease +GARD:0015593,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015593,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015593,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015595,GARD:0022515,GARD:0003284,,Rare cardiac disease +GARD:0015595,GARD:0022531,GARD:0003284,,Rare genetic disease +GARD:0015596,GARD:0022531,GARD:0004227,,Rare genetic disease +GARD:0015596,GARD:0022515,GARD:0004227,,Rare cardiac disease +GARD:0015597,GARD:0022511,GARD:0003836,,Rare bone disease +GARD:0015597,GARD:0022528,GARD:0003836,,Rare otorhinolaryngologic disease +GARD:0015597,GARD:0022513,GARD:0003836,,Rare developmental defect during embryogenesis +GARD:0015597,GARD:0022531,GARD:0003836,,Rare genetic disease +GARD:0015598,GARD:0022514,GARD:0005068,,Rare gynecologic or obstetric disease +GARD:0015598,GARD:0022521,GARD:0017211,,Rare endocrine disease +GARD:0015598,GARD:0022514,GARD:0017211,,Rare gynecologic or obstetric disease +GARD:0015598,GARD:0022536,GARD:0005068,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015598,GARD:0022529,GARD:0017211,,Rare infertility +GARD:0015598,GARD:0022532,GARD:0005068,,Rare urogenital disease +GARD:0015598,GARD:0022515,GARD:0005068,,Rare cardiac disease +GARD:0015598,GARD:0022513,GARD:0005068,,Rare developmental defect during embryogenesis +GARD:0015598,GARD:0022536,GARD:0017211,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015598,GARD:0022513,GARD:0017211,,Rare developmental defect during embryogenesis +GARD:0015598,GARD:0022531,GARD:0017211,,Rare genetic disease +GARD:0015598,GARD:0022521,GARD:0005068,,Rare endocrine disease +GARD:0015598,GARD:0022531,GARD:0005068,,Rare genetic disease +GARD:0015598,GARD:0022532,GARD:0017211,,Rare urogenital disease +GARD:0015599,GARD:0022513,GARD:0007377,,Rare developmental defect during embryogenesis +GARD:0015599,GARD:0022520,GARD:0007377,,Rare ophthalmic disorder +GARD:0015599,GARD:0022531,GARD:0007377,,Rare genetic disease +GARD:0015600,GARD:0022523,GARD:0006649,,Rare immune disease +GARD:0015600,GARD:0022531,GARD:0006649,,Rare genetic disease +GARD:0015600,GARD:0022509,GARD:0006649,,Rare infectious disease +GARD:0015600,GARD:0022524,GARD:0006649,,Rare neurologic disease +GARD:0015601,GARD:0022536,GARD:0007459,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015601,GARD:0022506,GARD:0007459,,Rare hepatic disease +GARD:0015602,GARD:0022506,GARD:0007459,,Rare hepatic disease +GARD:0015602,GARD:0022536,GARD:0007459,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015603,GARD:0022524,GARD:0007185,,Rare neurologic disease +GARD:0015603,GARD:0022535,GARD:0007185,,Rare neoplastic disease +GARD:0015604,GARD:0022524,GARD:0007185,,Rare neurologic disease +GARD:0015604,GARD:0022535,GARD:0007185,,Rare neoplastic disease +GARD:0015605,GARD:0022524,GARD:0007185,,Rare neurologic disease +GARD:0015605,GARD:0022535,GARD:0007185,,Rare neoplastic disease +GARD:0015606,GARD:0022524,GARD:0007185,,Rare neurologic disease +GARD:0015606,GARD:0022535,GARD:0007185,,Rare neoplastic disease +GARD:0015607,GARD:0022524,GARD:0007185,,Rare neurologic disease +GARD:0015607,GARD:0022535,GARD:0007185,,Rare neoplastic disease +GARD:0015608,GARD:0022522,GARD:0002356,,Rare hematologic disease +GARD:0015608,GARD:0022536,GARD:0002356,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015608,GARD:0022535,GARD:0002356,,Rare neoplastic disease +GARD:0015609,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0015609,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0015610,GARD:0022511,GARD:0003562,,Rare bone disease +GARD:0015610,GARD:0022531,GARD:0003562,,Rare genetic disease +GARD:0015610,GARD:0022513,GARD:0003562,,Rare developmental defect during embryogenesis +GARD:0015611,GARD:0022521,GARD:0005068,,Rare endocrine disease +GARD:0015611,GARD:0022536,GARD:0005068,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015611,GARD:0022513,GARD:0005068,,Rare developmental defect during embryogenesis +GARD:0015611,GARD:0022532,GARD:0005068,,Rare urogenital disease +GARD:0015611,GARD:0022515,GARD:0005068,,Rare cardiac disease +GARD:0015611,GARD:0022531,GARD:0005068,,Rare genetic disease +GARD:0015611,GARD:0022514,GARD:0005068,,Rare gynecologic or obstetric disease +GARD:0015612,GARD:0022513,GARD:0010508,,Rare developmental defect during embryogenesis +GARD:0015612,GARD:0022528,GARD:0010508,,Rare otorhinolaryngologic disease +GARD:0015612,GARD:0022531,GARD:0010508,,Rare genetic disease +GARD:0015612,GARD:0022536,GARD:0010508,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015612,GARD:0022512,GARD:0010508,,Rare renal disease +GARD:0015613,GARD:0022536,GARD:0003049,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015613,GARD:0022513,GARD:0004835,,Rare developmental defect during embryogenesis +GARD:0015613,GARD:0022517,GARD:0004833,,Rare respiratory disease +GARD:0015613,GARD:0022511,GARD:0003049,,Rare bone disease +GARD:0015613,GARD:0022531,GARD:0004833,,Rare genetic disease +GARD:0015613,GARD:0022513,GARD:0004833,,Rare developmental defect during embryogenesis +GARD:0015613,GARD:0022531,GARD:0004835,,Rare genetic disease +GARD:0015613,GARD:0022531,GARD:0003049,,Rare genetic disease +GARD:0015613,GARD:0022536,GARD:0004835,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015613,GARD:0022517,GARD:0003049,,Rare respiratory disease +GARD:0015613,GARD:0022512,GARD:0003049,,Rare renal disease +GARD:0015613,GARD:0022534,GARD:0004835,,Rare abdominal surgical disease +GARD:0015613,GARD:0022511,GARD:0004835,,Rare bone disease +GARD:0015613,GARD:0022517,GARD:0004835,,Rare respiratory disease +GARD:0015613,GARD:0022513,GARD:0003049,,Rare developmental defect during embryogenesis +GARD:0015613,GARD:0022511,GARD:0004833,,Rare bone disease +GARD:0015614,GARD:0022536,GARD:0006589,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015614,GARD:0022531,GARD:0006589,,Rare genetic disease +GARD:0015614,GARD:0022523,GARD:0006589,,Rare immune disease +GARD:0015614,GARD:0022524,GARD:0006589,,Rare neurologic disease +GARD:0015615,GARD:0022520,GARD:0010049,,Rare ophthalmic disorder +GARD:0015615,GARD:0022531,GARD:0010049,,Rare genetic disease +GARD:0015616,GARD:0022531,GARD:0009558,,Rare genetic disease +GARD:0015616,GARD:0022523,GARD:0009558,,Rare immune disease +GARD:0015616,GARD:0022536,GARD:0009558,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015617,GARD:0022531,GARD:0001077,,Rare genetic disease +GARD:0015617,GARD:0022510,GARD:0001077,,Rare skin disease +GARD:0015617,GARD:0022523,GARD:0001077,,Rare immune disease +GARD:0015618,GARD:0022524,GARD:0003976,,Rare neurologic disease +GARD:0015618,GARD:0022531,GARD:0003976,,Rare genetic disease +GARD:0015619,GARD:0022531,GARD:0001030,,Rare genetic disease +GARD:0015619,GARD:0022515,GARD:0001030,,Rare cardiac disease +GARD:0015620,GARD:0022531,GARD:0001030,,Rare genetic disease +GARD:0015620,GARD:0022515,GARD:0001030,,Rare cardiac disease +GARD:0015621,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015621,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015621,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015622,GARD:0022531,GARD:0001030,,Rare genetic disease +GARD:0015622,GARD:0022515,GARD:0001030,,Rare cardiac disease +GARD:0015623,GARD:0022531,GARD:0010049,,Rare genetic disease +GARD:0015623,GARD:0022520,GARD:0010049,,Rare ophthalmic disorder +GARD:0015624,GARD:0022520,GARD:0002599,,Rare ophthalmic disorder +GARD:0015624,GARD:0022531,GARD:0000156,,Rare genetic disease +GARD:0015624,GARD:0022524,GARD:0002599,,Rare neurologic disease +GARD:0015624,GARD:0022513,GARD:0000156,,Rare developmental defect during embryogenesis +GARD:0015624,GARD:0022520,GARD:0000156,,Rare ophthalmic disorder +GARD:0015624,GARD:0022524,GARD:0000156,,Rare neurologic disease +GARD:0015624,GARD:0022508,GARD:0000156,,Rare inborn errors of metabolism +GARD:0015624,GARD:0022508,GARD:0002599,,Rare inborn errors of metabolism +GARD:0015624,GARD:0022531,GARD:0002599,,Rare genetic disease +GARD:0015624,GARD:0022513,GARD:0002599,,Rare developmental defect during embryogenesis +GARD:0015625,GARD:0022513,GARD:0000156,,Rare developmental defect during embryogenesis +GARD:0015625,GARD:0022513,GARD:0002599,,Rare developmental defect during embryogenesis +GARD:0015625,GARD:0022531,GARD:0000156,,Rare genetic disease +GARD:0015625,GARD:0022524,GARD:0002599,,Rare neurologic disease +GARD:0015625,GARD:0022508,GARD:0002599,,Rare inborn errors of metabolism +GARD:0015625,GARD:0022508,GARD:0000156,,Rare inborn errors of metabolism +GARD:0015625,GARD:0022531,GARD:0002599,,Rare genetic disease +GARD:0015625,GARD:0022524,GARD:0000156,,Rare neurologic disease +GARD:0015625,GARD:0022520,GARD:0002599,,Rare ophthalmic disorder +GARD:0015625,GARD:0022520,GARD:0000156,,Rare ophthalmic disorder +GARD:0015626,GARD:0022520,GARD:0002599,,Rare ophthalmic disorder +GARD:0015626,GARD:0022524,GARD:0002599,,Rare neurologic disease +GARD:0015626,GARD:0022513,GARD:0000156,,Rare developmental defect during embryogenesis +GARD:0015626,GARD:0022520,GARD:0000156,,Rare ophthalmic disorder +GARD:0015626,GARD:0022508,GARD:0000156,,Rare inborn errors of metabolism +GARD:0015626,GARD:0022513,GARD:0002599,,Rare developmental defect during embryogenesis +GARD:0015626,GARD:0022531,GARD:0002599,,Rare genetic disease +GARD:0015626,GARD:0022531,GARD:0000156,,Rare genetic disease +GARD:0015626,GARD:0022524,GARD:0000156,,Rare neurologic disease +GARD:0015626,GARD:0022508,GARD:0002599,,Rare inborn errors of metabolism +GARD:0015627,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015627,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015627,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015628,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015628,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015628,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015629,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015629,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015629,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015630,GARD:0022531,GARD:0008349,,Rare genetic disease +GARD:0015630,GARD:0022526,GARD:0008349,,Rare odontologic disease +GARD:0015631,GARD:0022531,GARD:0003995,,Rare genetic disease +GARD:0015631,GARD:0022520,GARD:0003995,,Rare ophthalmic disorder +GARD:0015632,GARD:0022524,GARD:0006886,,Rare neurologic disease +GARD:0015632,GARD:0022529,GARD:0006886,,Rare infertility +GARD:0015632,GARD:0022509,GARD:0006886,,Rare infectious disease +GARD:0015633,GARD:0022522,GARD:0010766,,Rare hematologic disease +GARD:0015633,GARD:0022531,GARD:0010766,,Rare genetic disease +GARD:0015634,GARD:0022531,GARD:0001998,,Rare genetic disease +GARD:0015634,GARD:0022524,GARD:0001998,,Rare neurologic disease +GARD:0015635,GARD:0022531,GARD:0010766,,Rare genetic disease +GARD:0015635,GARD:0022522,GARD:0010766,,Rare hematologic disease +GARD:0015636,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015636,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0015636,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0015637,GARD:0022524,GARD:0010814,,Rare neurologic disease +GARD:0015638,GARD:0022516,GARD:0009905,,Rare gastroenterologic disease +GARD:0015638,GARD:0022531,GARD:0009905,,Rare genetic disease +GARD:0015638,GARD:0022535,GARD:0009905,,Rare neoplastic disease +GARD:0015639,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015639,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015639,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015640,GARD:0022524,GARD:0007830,,Rare neurologic disease +GARD:0015640,GARD:0022513,GARD:0007830,,Rare developmental defect during embryogenesis +GARD:0015640,GARD:0022527,GARD:0007830,,Rare circulatory system disease +GARD:0015640,GARD:0022536,GARD:0007830,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015640,GARD:0022512,GARD:0007830,,Rare renal disease +GARD:0015640,GARD:0022510,GARD:0007830,,Rare skin disease +GARD:0015640,GARD:0022535,GARD:0007830,,Rare neoplastic disease +GARD:0015640,GARD:0022531,GARD:0007830,,Rare genetic disease +GARD:0015641,GARD:0022534,GARD:0005524,,Rare abdominal surgical disease +GARD:0015641,GARD:0022531,GARD:0005524,,Rare genetic disease +GARD:0015641,GARD:0022528,GARD:0005524,,Rare otorhinolaryngologic disease +GARD:0015641,GARD:0022516,GARD:0005524,,Rare gastroenterologic disease +GARD:0015641,GARD:0022510,GARD:0005524,,Rare skin disease +GARD:0015641,GARD:0022513,GARD:0005524,,Rare developmental defect during embryogenesis +GARD:0015641,GARD:0022536,GARD:0005524,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015642,GARD:0022516,GARD:0005524,,Rare gastroenterologic disease +GARD:0015642,GARD:0022531,GARD:0005524,,Rare genetic disease +GARD:0015642,GARD:0022534,GARD:0005524,,Rare abdominal surgical disease +GARD:0015642,GARD:0022513,GARD:0005524,,Rare developmental defect during embryogenesis +GARD:0015642,GARD:0022510,GARD:0005524,,Rare skin disease +GARD:0015642,GARD:0022536,GARD:0005524,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015642,GARD:0022528,GARD:0005524,,Rare otorhinolaryngologic disease +GARD:0015643,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015643,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015643,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015644,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0015644,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0015644,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0015644,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0015644,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0015644,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0015644,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0015644,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0015644,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015645,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0015645,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0015645,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0015645,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0015645,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0015645,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0015645,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0015645,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0015645,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015646,GARD:0022531,GARD:0001613,,Rare genetic disease +GARD:0015646,GARD:0022520,GARD:0001613,,Rare ophthalmic disorder +GARD:0015646,GARD:0022524,GARD:0001613,,Rare neurologic disease +GARD:0015647,GARD:0022508,GARD:0010092,,Rare inborn errors of metabolism +GARD:0015647,GARD:0022506,GARD:0010092,,Rare hepatic disease +GARD:0015647,GARD:0022531,GARD:0010092,,Rare genetic disease +GARD:0015647,GARD:0022536,GARD:0010092,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015648,GARD:0022531,GARD:0009676,,Rare genetic disease +GARD:0015648,GARD:0022524,GARD:0009676,,Rare neurologic disease +GARD:0015649,GARD:0022524,GARD:0006729,,Rare neurologic disease +GARD:0015649,GARD:0022531,GARD:0006729,,Rare genetic disease +GARD:0015650,GARD:0022516,GARD:0004206,,Rare gastroenterologic disease +GARD:0015650,GARD:0022531,GARD:0004206,,Rare genetic disease +GARD:0015650,GARD:0022535,GARD:0004206,,Rare neoplastic disease +GARD:0015651,GARD:0022535,GARD:0004206,,Rare neoplastic disease +GARD:0015651,GARD:0022516,GARD:0004206,,Rare gastroenterologic disease +GARD:0015651,GARD:0022531,GARD:0004206,,Rare genetic disease +GARD:0015652,GARD:0022531,GARD:0003697,,Rare genetic disease +GARD:0015652,GARD:0022521,GARD:0003697,,Rare endocrine disease +GARD:0015653,GARD:0022531,GARD:0003697,,Rare genetic disease +GARD:0015653,GARD:0022521,GARD:0003697,,Rare endocrine disease +GARD:0015654,GARD:0022511,GARD:0000987,,Rare bone disease +GARD:0015654,GARD:0022513,GARD:0000987,,Rare developmental defect during embryogenesis +GARD:0015654,GARD:0022531,GARD:0000987,,Rare genetic disease +GARD:0015655,GARD:0022531,GARD:0009118,,Rare genetic disease +GARD:0015655,GARD:0022536,GARD:0009118,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015655,GARD:0022512,GARD:0009118,,Rare renal disease +GARD:0015656,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015656,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0015656,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0015656,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0015656,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0015656,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0015656,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0015656,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0015656,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0015657,GARD:0022531,GARD:0015010,,Rare genetic disease +GARD:0015657,GARD:0022514,GARD:0015010,,Rare gynecologic or obstetric disease +GARD:0015657,GARD:0022535,GARD:0015010,,Rare neoplastic disease +GARD:0015658,GARD:0022536,GARD:0000794,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015658,GARD:0022513,GARD:0000794,,Rare developmental defect during embryogenesis +GARD:0015658,GARD:0022506,GARD:0000794,,Rare hepatic disease +GARD:0015658,GARD:0022508,GARD:0000794,,Rare inborn errors of metabolism +GARD:0015658,GARD:0022510,GARD:0000794,,Rare skin disease +GARD:0015658,GARD:0022531,GARD:0000794,,Rare genetic disease +GARD:0015658,GARD:0022512,GARD:0000794,,Rare renal disease +GARD:0015659,GARD:0022509,GARD:0006886,,Rare infectious disease +GARD:0015659,GARD:0022524,GARD:0006886,,Rare neurologic disease +GARD:0015659,GARD:0022529,GARD:0006886,,Rare infertility +GARD:0015660,GARD:0022531,GARD:0010118,,Rare genetic disease +GARD:0015660,GARD:0022520,GARD:0010118,,Rare ophthalmic disorder +GARD:0015661,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015661,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015661,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015662,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015662,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015662,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015663,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0015664,GARD:0022531,GARD:0004694,,Rare genetic disease +GARD:0015664,GARD:0022524,GARD:0004694,,Rare neurologic disease +GARD:0015665,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015665,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015665,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015666,GARD:0022515,GARD:0003284,,Rare cardiac disease +GARD:0015666,GARD:0022531,GARD:0003284,,Rare genetic disease +GARD:0015667,GARD:0022535,GARD:0007157,,Rare neoplastic disease +GARD:0015668,GARD:0022531,GARD:0006140,,Rare genetic disease +GARD:0015668,GARD:0022535,GARD:0006140,,Rare neoplastic disease +GARD:0015668,GARD:0022523,GARD:0006140,,Rare immune disease +GARD:0015669,GARD:0022535,GARD:0006140,,Rare neoplastic disease +GARD:0015669,GARD:0022523,GARD:0006140,,Rare immune disease +GARD:0015669,GARD:0022531,GARD:0006140,,Rare genetic disease +GARD:0015670,GARD:0022535,GARD:0006140,,Rare neoplastic disease +GARD:0015670,GARD:0022523,GARD:0006140,,Rare immune disease +GARD:0015670,GARD:0022531,GARD:0006140,,Rare genetic disease +GARD:0015671,GARD:0022523,GARD:0006140,,Rare immune disease +GARD:0015671,GARD:0022535,GARD:0006140,,Rare neoplastic disease +GARD:0015671,GARD:0022531,GARD:0006140,,Rare genetic disease +GARD:0015672,GARD:0022531,GARD:0009640,,Rare genetic disease +GARD:0015672,GARD:0022523,GARD:0009640,,Rare immune disease +GARD:0015673,GARD:0022531,GARD:0009640,,Rare genetic disease +GARD:0015673,GARD:0022523,GARD:0009640,,Rare immune disease +GARD:0015674,GARD:0022523,GARD:0009640,,Rare immune disease +GARD:0015674,GARD:0022531,GARD:0009640,,Rare genetic disease +GARD:0015675,GARD:0022523,GARD:0009640,,Rare immune disease +GARD:0015675,GARD:0022531,GARD:0009640,,Rare genetic disease +GARD:0015676,GARD:0022524,GARD:0003885,,Rare neurologic disease +GARD:0015676,GARD:0022531,GARD:0003885,,Rare genetic disease +GARD:0015676,GARD:0022522,GARD:0003885,,Rare hematologic disease +GARD:0015676,GARD:0022508,GARD:0003885,,Rare inborn errors of metabolism +GARD:0015677,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015677,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015677,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015678,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015678,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015678,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015679,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015679,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015679,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015680,GARD:0022513,GARD:0000359,,Rare developmental defect during embryogenesis +GARD:0015680,GARD:0022531,GARD:0000359,,Rare genetic disease +GARD:0015680,GARD:0022520,GARD:0000359,,Rare ophthalmic disorder +GARD:0015680,GARD:0022511,GARD:0000359,,Rare bone disease +GARD:0015680,GARD:0022536,GARD:0000359,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015680,GARD:0022510,GARD:0000359,,Rare skin disease +GARD:0015680,GARD:0022517,GARD:0000359,,Rare respiratory disease +GARD:0015680,GARD:0022512,GARD:0000359,,Rare renal disease +GARD:0015681,GARD:0022512,GARD:0000322,,Rare renal disease +GARD:0015681,GARD:0022536,GARD:0000322,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015681,GARD:0022531,GARD:0000322,,Rare genetic disease +GARD:0015681,GARD:0022520,GARD:0000322,,Rare ophthalmic disorder +GARD:0015682,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015682,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015682,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015683,GARD:0022524,GARD:0006635,,Rare neurologic disease +GARD:0015683,GARD:0022508,GARD:0006635,,Rare inborn errors of metabolism +GARD:0015683,GARD:0022531,GARD:0006635,,Rare genetic disease +GARD:0015684,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015684,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015684,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015685,GARD:0022508,GARD:0005661,,Rare inborn errors of metabolism +GARD:0015685,GARD:0022524,GARD:0005661,,Rare neurologic disease +GARD:0015685,GARD:0022531,GARD:0005661,,Rare genetic disease +GARD:0015686,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0015686,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0015687,GARD:0022531,GARD:0008562,,Rare genetic disease +GARD:0015687,GARD:0022511,GARD:0008562,,Rare bone disease +GARD:0015687,GARD:0022524,GARD:0008562,,Rare neurologic disease +GARD:0015687,GARD:0022513,GARD:0008562,,Rare developmental defect during embryogenesis +GARD:0015688,GARD:0022511,GARD:0003074,,Rare bone disease +GARD:0015688,GARD:0022531,GARD:0003074,,Rare genetic disease +GARD:0015688,GARD:0022513,GARD:0003074,,Rare developmental defect during embryogenesis +GARD:0015689,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015689,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015689,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015690,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015690,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015690,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015691,GARD:0022531,GARD:0010280,,Rare genetic disease +GARD:0015691,GARD:0022534,GARD:0010280,,Rare abdominal surgical disease +GARD:0015691,GARD:0022513,GARD:0010280,,Rare developmental defect during embryogenesis +GARD:0015691,GARD:0022536,GARD:0010280,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015691,GARD:0022511,GARD:0010280,,Rare bone disease +GARD:0015692,GARD:0022513,GARD:0003644,,Rare developmental defect during embryogenesis +GARD:0015692,GARD:0022531,GARD:0003644,,Rare genetic disease +GARD:0015692,GARD:0022520,GARD:0003644,,Rare ophthalmic disorder +GARD:0015693,GARD:0022531,GARD:0010955,,Rare genetic disease +GARD:0015693,GARD:0022510,GARD:0010955,,Rare skin disease +GARD:0015693,GARD:0022529,GARD:0010955,,Rare infertility +GARD:0015693,GARD:0022527,GARD:0010955,,Rare circulatory system disease +GARD:0015693,GARD:0022524,GARD:0010955,,Rare neurologic disease +GARD:0015693,GARD:0022512,GARD:0010955,,Rare renal disease +GARD:0015693,GARD:0022519,GARD:0010955,,Rare surgical cardiac disease +GARD:0015693,GARD:0022536,GARD:0010955,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015693,GARD:0022535,GARD:0010955,,Rare neoplastic disease +GARD:0015693,GARD:0022521,GARD:0010955,,Rare endocrine disease +GARD:0015693,GARD:0022511,GARD:0010955,,Rare bone disease +GARD:0015693,GARD:0022515,GARD:0010955,,Rare cardiac disease +GARD:0015693,GARD:0022513,GARD:0010955,,Rare developmental defect during embryogenesis +GARD:0015693,GARD:0022520,GARD:0010955,,Rare ophthalmic disorder +GARD:0015694,GARD:0022531,GARD:0001100,,Rare genetic disease +GARD:0015694,GARD:0022513,GARD:0001100,,Rare developmental defect during embryogenesis +GARD:0015694,GARD:0022528,GARD:0001100,,Rare otorhinolaryngologic disease +GARD:0015694,GARD:0022535,GARD:0001100,,Rare neoplastic disease +GARD:0015694,GARD:0022515,GARD:0001100,,Rare cardiac disease +GARD:0015694,GARD:0022519,GARD:0001100,,Rare surgical cardiac disease +GARD:0015694,GARD:0022510,GARD:0001100,,Rare skin disease +GARD:0015694,GARD:0022536,GARD:0001100,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015695,GARD:0022531,GARD:0006635,,Rare genetic disease +GARD:0015695,GARD:0022508,GARD:0006635,,Rare inborn errors of metabolism +GARD:0015695,GARD:0022524,GARD:0006635,,Rare neurologic disease +GARD:0015696,GARD:0022536,GARD:0006660,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015696,GARD:0022516,GARD:0006660,,Rare gastroenterologic disease +GARD:0015696,GARD:0022531,GARD:0006660,,Rare genetic disease +GARD:0015697,GARD:0022536,GARD:0006660,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015697,GARD:0022516,GARD:0006660,,Rare gastroenterologic disease +GARD:0015697,GARD:0022531,GARD:0006660,,Rare genetic disease +GARD:0015698,GARD:0022520,GARD:0009124,,Rare ophthalmic disorder +GARD:0015698,GARD:0022507,GARD:0009124,,Rare maxillo-facial surgical disease +GARD:0015698,GARD:0022528,GARD:0009124,,Rare otorhinolaryngologic disease +GARD:0015698,GARD:0022513,GARD:0009124,,Rare developmental defect during embryogenesis +GARD:0015698,GARD:0022511,GARD:0009124,,Rare bone disease +GARD:0015698,GARD:0022531,GARD:0009124,,Rare genetic disease +GARD:0015699,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0015699,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0015700,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015700,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015700,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015701,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015701,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015701,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015702,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015702,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015702,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015703,GARD:0022531,GARD:0005068,,Rare genetic disease +GARD:0015703,GARD:0022531,GARD:0017211,,Rare genetic disease +GARD:0015703,GARD:0022521,GARD:0017211,,Rare endocrine disease +GARD:0015703,GARD:0022515,GARD:0005068,,Rare cardiac disease +GARD:0015703,GARD:0022514,GARD:0005068,,Rare gynecologic or obstetric disease +GARD:0015703,GARD:0022514,GARD:0017211,,Rare gynecologic or obstetric disease +GARD:0015703,GARD:0022521,GARD:0005068,,Rare endocrine disease +GARD:0015703,GARD:0022529,GARD:0017211,,Rare infertility +GARD:0015703,GARD:0022536,GARD:0017211,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015703,GARD:0022532,GARD:0017211,,Rare urogenital disease +GARD:0015703,GARD:0022536,GARD:0005068,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015703,GARD:0022513,GARD:0005068,,Rare developmental defect during embryogenesis +GARD:0015703,GARD:0022513,GARD:0017211,,Rare developmental defect during embryogenesis +GARD:0015703,GARD:0022532,GARD:0005068,,Rare urogenital disease +GARD:0015704,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015704,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015704,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015705,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015705,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015705,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015706,GARD:0022525,GARD:0002249,,Rare systemic or rheumatologic disease +GARD:0015706,GARD:0022531,GARD:0002249,,Rare genetic disease +GARD:0015706,GARD:0022518,GARD:0002249,,Rare surgical thoracic disease +GARD:0015706,GARD:0022527,GARD:0002249,,Rare circulatory system disease +GARD:0015707,GARD:0022531,GARD:0015025,,Rare genetic disease +GARD:0015707,GARD:0022523,GARD:0015025,,Rare immune disease +GARD:0015708,GARD:0022513,GARD:0002033,,Rare developmental defect during embryogenesis +GARD:0015708,GARD:0022531,GARD:0002033,,Rare genetic disease +GARD:0015708,GARD:0022511,GARD:0002033,,Rare bone disease +GARD:0015708,GARD:0022524,GARD:0002033,,Rare neurologic disease +GARD:0015709,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015709,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015709,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015710,GARD:0022511,GARD:0002033,,Rare bone disease +GARD:0015710,GARD:0022531,GARD:0002033,,Rare genetic disease +GARD:0015710,GARD:0022524,GARD:0002033,,Rare neurologic disease +GARD:0015710,GARD:0022513,GARD:0002033,,Rare developmental defect during embryogenesis +GARD:0015711,GARD:0022531,GARD:0002033,,Rare genetic disease +GARD:0015711,GARD:0022511,GARD:0002033,,Rare bone disease +GARD:0015711,GARD:0022524,GARD:0002033,,Rare neurologic disease +GARD:0015711,GARD:0022513,GARD:0002033,,Rare developmental defect during embryogenesis +GARD:0015712,GARD:0022531,GARD:0002033,,Rare genetic disease +GARD:0015712,GARD:0022513,GARD:0002033,,Rare developmental defect during embryogenesis +GARD:0015712,GARD:0022511,GARD:0002033,,Rare bone disease +GARD:0015712,GARD:0022524,GARD:0002033,,Rare neurologic disease +GARD:0015713,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015713,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015713,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015714,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015714,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015714,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015715,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015715,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015715,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015716,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015716,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015716,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015717,GARD:0022513,GARD:0010705,,Rare developmental defect during embryogenesis +GARD:0015717,GARD:0022524,GARD:0010705,,Rare neurologic disease +GARD:0015717,GARD:0022531,GARD:0010705,,Rare genetic disease +GARD:0015718,GARD:0022512,GARD:0003049,,Rare renal disease +GARD:0015718,GARD:0022531,GARD:0003049,,Rare genetic disease +GARD:0015718,GARD:0022511,GARD:0003049,,Rare bone disease +GARD:0015718,GARD:0022513,GARD:0003049,,Rare developmental defect during embryogenesis +GARD:0015718,GARD:0022536,GARD:0003049,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015718,GARD:0022517,GARD:0003049,,Rare respiratory disease +GARD:0015719,GARD:0022531,GARD:0008562,,Rare genetic disease +GARD:0015719,GARD:0022524,GARD:0008562,,Rare neurologic disease +GARD:0015719,GARD:0022511,GARD:0008562,,Rare bone disease +GARD:0015719,GARD:0022513,GARD:0008562,,Rare developmental defect during embryogenesis +GARD:0015720,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015720,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015720,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015721,GARD:0022520,GARD:0003995,,Rare ophthalmic disorder +GARD:0015721,GARD:0022531,GARD:0003995,,Rare genetic disease +GARD:0015722,GARD:0022531,GARD:0008696,,Rare genetic disease +GARD:0015722,GARD:0022526,GARD:0008696,,Rare odontologic disease +GARD:0015722,GARD:0022520,GARD:0008696,,Rare ophthalmic disorder +GARD:0015722,GARD:0022513,GARD:0008696,,Rare developmental defect during embryogenesis +GARD:0015722,GARD:0022511,GARD:0008696,,Rare bone disease +GARD:0015723,GARD:0022531,GARD:0015015,,Rare genetic disease +GARD:0015723,GARD:0022520,GARD:0015015,,Rare ophthalmic disorder +GARD:0015724,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015724,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015724,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015725,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015725,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015725,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015726,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015726,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015726,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015727,GARD:0022507,GARD:0003436,,Rare maxillo-facial surgical disease +GARD:0015727,GARD:0022511,GARD:0003436,,Rare bone disease +GARD:0015727,GARD:0022536,GARD:0003436,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015727,GARD:0022524,GARD:0003436,,Rare neurologic disease +GARD:0015727,GARD:0022531,GARD:0003436,,Rare genetic disease +GARD:0015727,GARD:0022520,GARD:0003436,,Rare ophthalmic disorder +GARD:0015727,GARD:0022528,GARD:0003436,,Rare otorhinolaryngologic disease +GARD:0015727,GARD:0022534,GARD:0003436,,Rare abdominal surgical disease +GARD:0015727,GARD:0022513,GARD:0003436,,Rare developmental defect during embryogenesis +GARD:0015727,GARD:0022512,GARD:0003436,,Rare renal disease +GARD:0015728,GARD:0022524,GARD:0003445,,Rare neurologic disease +GARD:0015728,GARD:0022531,GARD:0003445,,Rare genetic disease +GARD:0015729,GARD:0022524,GARD:0003445,,Rare neurologic disease +GARD:0015729,GARD:0022531,GARD:0003445,,Rare genetic disease +GARD:0015729,GARD:0022513,GARD:0017112,,Rare developmental defect during embryogenesis +GARD:0015729,GARD:0022531,GARD:0017112,,Rare genetic disease +GARD:0015729,GARD:0022524,GARD:0017112,,Rare neurologic disease +GARD:0015730,GARD:0022531,GARD:0000612,,Rare genetic disease +GARD:0015730,GARD:0022524,GARD:0000612,,Rare neurologic disease +GARD:0015730,GARD:0022510,GARD:0000612,,Rare skin disease +GARD:0015731,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0015731,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0015731,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015731,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0015731,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0015731,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0015731,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0015731,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0015731,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0015732,GARD:0022531,GARD:0001077,,Rare genetic disease +GARD:0015732,GARD:0022510,GARD:0001077,,Rare skin disease +GARD:0015732,GARD:0022523,GARD:0001077,,Rare immune disease +GARD:0015733,GARD:0022531,GARD:0017273,,Rare genetic disease +GARD:0015733,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0015733,GARD:0022524,GARD:0017273,,Rare neurologic disease +GARD:0015734,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0015734,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0015735,GARD:0022531,GARD:0012502,,Rare genetic disease +GARD:0015735,GARD:0022529,GARD:0012502,,Rare infertility +GARD:0015736,GARD:0022516,GARD:0006100,,Rare gastroenterologic disease +GARD:0015736,GARD:0022510,GARD:0006100,,Rare skin disease +GARD:0015736,GARD:0022531,GARD:0006100,,Rare genetic disease +GARD:0015736,GARD:0022517,GARD:0006100,,Rare respiratory disease +GARD:0015736,GARD:0022536,GARD:0006100,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015736,GARD:0022523,GARD:0006100,,Rare immune disease +GARD:0015736,GARD:0022520,GARD:0006100,,Rare ophthalmic disorder +GARD:0015737,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0015737,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0015738,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015738,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015738,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015739,GARD:0022535,GARD:0010905,,Rare neoplastic disease +GARD:0015739,GARD:0022523,GARD:0010905,,Rare immune disease +GARD:0015739,GARD:0022510,GARD:0010905,,Rare skin disease +GARD:0015739,GARD:0022520,GARD:0010905,,Rare ophthalmic disorder +GARD:0015739,GARD:0022536,GARD:0010905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015739,GARD:0022524,GARD:0010905,,Rare neurologic disease +GARD:0015739,GARD:0022513,GARD:0010905,,Rare developmental defect during embryogenesis +GARD:0015739,GARD:0022522,GARD:0010905,,Rare hematologic disease +GARD:0015739,GARD:0022531,GARD:0010905,,Rare genetic disease +GARD:0015740,GARD:0022523,GARD:0010905,,Rare immune disease +GARD:0015740,GARD:0022524,GARD:0010905,,Rare neurologic disease +GARD:0015740,GARD:0022536,GARD:0010905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015740,GARD:0022510,GARD:0010905,,Rare skin disease +GARD:0015740,GARD:0022531,GARD:0010905,,Rare genetic disease +GARD:0015740,GARD:0022535,GARD:0010905,,Rare neoplastic disease +GARD:0015740,GARD:0022520,GARD:0010905,,Rare ophthalmic disorder +GARD:0015740,GARD:0022522,GARD:0010905,,Rare hematologic disease +GARD:0015740,GARD:0022513,GARD:0010905,,Rare developmental defect during embryogenesis +GARD:0015741,GARD:0022510,GARD:0010905,,Rare skin disease +GARD:0015741,GARD:0022531,GARD:0000346,,Rare genetic disease +GARD:0015741,GARD:0022522,GARD:0010905,,Rare hematologic disease +GARD:0015741,GARD:0022523,GARD:0000346,,Rare immune disease +GARD:0015741,GARD:0022536,GARD:0000346,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015741,GARD:0022513,GARD:0000346,,Rare developmental defect during embryogenesis +GARD:0015741,GARD:0022520,GARD:0010905,,Rare ophthalmic disorder +GARD:0015741,GARD:0022522,GARD:0000346,,Rare hematologic disease +GARD:0015741,GARD:0022524,GARD:0000346,,Rare neurologic disease +GARD:0015741,GARD:0022536,GARD:0010905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015741,GARD:0022523,GARD:0010905,,Rare immune disease +GARD:0015741,GARD:0022535,GARD:0010905,,Rare neoplastic disease +GARD:0015741,GARD:0022513,GARD:0010905,,Rare developmental defect during embryogenesis +GARD:0015741,GARD:0022524,GARD:0010905,,Rare neurologic disease +GARD:0015741,GARD:0022531,GARD:0010905,,Rare genetic disease +GARD:0015742,GARD:0022531,GARD:0000346,,Rare genetic disease +GARD:0015742,GARD:0022523,GARD:0000346,,Rare immune disease +GARD:0015742,GARD:0022536,GARD:0000346,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015742,GARD:0022510,GARD:0010905,,Rare skin disease +GARD:0015742,GARD:0022523,GARD:0010905,,Rare immune disease +GARD:0015742,GARD:0022513,GARD:0000346,,Rare developmental defect during embryogenesis +GARD:0015742,GARD:0022522,GARD:0010905,,Rare hematologic disease +GARD:0015742,GARD:0022520,GARD:0010905,,Rare ophthalmic disorder +GARD:0015742,GARD:0022536,GARD:0010905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015742,GARD:0022531,GARD:0010905,,Rare genetic disease +GARD:0015742,GARD:0022513,GARD:0010905,,Rare developmental defect during embryogenesis +GARD:0015742,GARD:0022522,GARD:0000346,,Rare hematologic disease +GARD:0015742,GARD:0022535,GARD:0010905,,Rare neoplastic disease +GARD:0015742,GARD:0022524,GARD:0010905,,Rare neurologic disease +GARD:0015742,GARD:0022524,GARD:0000346,,Rare neurologic disease +GARD:0015743,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015743,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015743,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015744,GARD:0022531,GARD:0004421,,Rare genetic disease +GARD:0015744,GARD:0022515,GARD:0004421,,Rare cardiac disease +GARD:0015745,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0015745,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0015746,GARD:0022524,GARD:0007064,,Rare neurologic disease +GARD:0015747,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0015747,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0015748,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0015748,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0015749,GARD:0022524,GARD:0010999,,Rare neurologic disease +GARD:0015749,GARD:0022531,GARD:0010999,,Rare genetic disease +GARD:0015750,GARD:0022524,GARD:0010999,,Rare neurologic disease +GARD:0015750,GARD:0022531,GARD:0010999,,Rare genetic disease +GARD:0015751,GARD:0022523,GARD:0002945,,Rare immune disease +GARD:0015751,GARD:0022531,GARD:0002945,,Rare genetic disease +GARD:0015751,GARD:0022524,GARD:0002945,,Rare neurologic disease +GARD:0015751,GARD:0022536,GARD:0002945,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015752,GARD:0022509,GARD:0005856,,Rare infectious disease +GARD:0015753,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0015753,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015753,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0015753,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0015753,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0015753,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0015753,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0015753,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0015753,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0015754,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0015754,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0015754,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0015754,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0015754,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0015754,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0015754,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0015754,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0015754,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015755,GARD:0022519,GARD:0005865,,Rare surgical cardiac disease +GARD:0015755,GARD:0022531,GARD:0005865,,Rare genetic disease +GARD:0015755,GARD:0022513,GARD:0005865,,Rare developmental defect during embryogenesis +GARD:0015756,GARD:0022513,GARD:0004835,,Rare developmental defect during embryogenesis +GARD:0015756,GARD:0022534,GARD:0004835,,Rare abdominal surgical disease +GARD:0015756,GARD:0022531,GARD:0004835,,Rare genetic disease +GARD:0015756,GARD:0022517,GARD:0004835,,Rare respiratory disease +GARD:0015756,GARD:0022536,GARD:0004835,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015756,GARD:0022511,GARD:0004835,,Rare bone disease +GARD:0015757,GARD:0022510,GARD:0000359,,Rare skin disease +GARD:0015757,GARD:0022517,GARD:0000359,,Rare respiratory disease +GARD:0015757,GARD:0022536,GARD:0000359,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015757,GARD:0022531,GARD:0000359,,Rare genetic disease +GARD:0015757,GARD:0022520,GARD:0000359,,Rare ophthalmic disorder +GARD:0015757,GARD:0022513,GARD:0000359,,Rare developmental defect during embryogenesis +GARD:0015757,GARD:0022511,GARD:0000359,,Rare bone disease +GARD:0015757,GARD:0022512,GARD:0000359,,Rare renal disease +GARD:0015758,GARD:0022520,GARD:0003007,,Rare ophthalmic disorder +GARD:0015758,GARD:0022524,GARD:0003007,,Rare neurologic disease +GARD:0015758,GARD:0022535,GARD:0003007,,Rare neoplastic disease +GARD:0015758,GARD:0022531,GARD:0003007,,Rare genetic disease +GARD:0015758,GARD:0022513,GARD:0003007,,Rare developmental defect during embryogenesis +GARD:0015759,GARD:0022507,GARD:0006683,,Rare maxillo-facial surgical disease +GARD:0015759,GARD:0022524,GARD:0006683,,Rare neurologic disease +GARD:0015759,GARD:0022513,GARD:0006683,,Rare developmental defect during embryogenesis +GARD:0015759,GARD:0022531,GARD:0006683,,Rare genetic disease +GARD:0015759,GARD:0022528,GARD:0006683,,Rare otorhinolaryngologic disease +GARD:0015760,GARD:0022508,GARD:0002542,,Rare inborn errors of metabolism +GARD:0015760,GARD:0022531,GARD:0002542,,Rare genetic disease +GARD:0015760,GARD:0022529,GARD:0002542,,Rare infertility +GARD:0015760,GARD:0022532,GARD:0002542,,Rare urogenital disease +GARD:0015760,GARD:0022513,GARD:0002542,,Rare developmental defect during embryogenesis +GARD:0015760,GARD:0022514,GARD:0002542,,Rare gynecologic or obstetric disease +GARD:0015760,GARD:0022528,GARD:0002542,,Rare otorhinolaryngologic disease +GARD:0015760,GARD:0022521,GARD:0002542,,Rare endocrine disease +GARD:0015761,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0015761,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015761,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0015762,GARD:0022531,GARD:0000710,,Rare genetic disease +GARD:0015762,GARD:0022513,GARD:0000710,,Rare developmental defect during embryogenesis +GARD:0015762,GARD:0022510,GARD:0000710,,Rare skin disease +GARD:0015763,GARD:0022535,GARD:0011984,,Rare neoplastic disease +GARD:0015763,GARD:0022531,GARD:0011984,,Rare genetic disease +GARD:0015763,GARD:0022521,GARD:0011984,,Rare endocrine disease +GARD:0015764,GARD:0022520,GARD:0001019,,Rare ophthalmic disorder +GARD:0015764,GARD:0022525,GARD:0001019,,Rare systemic or rheumatologic disease +GARD:0015764,GARD:0022513,GARD:0001019,,Rare developmental defect during embryogenesis +GARD:0015764,GARD:0022531,GARD:0001019,,Rare genetic disease +GARD:0015764,GARD:0022510,GARD:0001019,,Rare skin disease +GARD:0015765,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0015765,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0015765,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0015765,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0015766,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015766,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015766,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015767,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015767,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015767,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015768,GARD:0022513,GARD:0002449,,Rare developmental defect during embryogenesis +GARD:0015768,GARD:0022511,GARD:0002449,,Rare bone disease +GARD:0015768,GARD:0022531,GARD:0002449,,Rare genetic disease +GARD:0015769,GARD:0022531,GARD:0010906,,Rare genetic disease +GARD:0015769,GARD:0022529,GARD:0010906,,Rare infertility +GARD:0015769,GARD:0022521,GARD:0010906,,Rare endocrine disease +GARD:0015770,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015770,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0015770,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0015771,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0015771,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0015771,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0015771,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0015772,GARD:0022513,GARD:0005667,,Rare developmental defect during embryogenesis +GARD:0015772,GARD:0022511,GARD:0005667,,Rare bone disease +GARD:0015772,GARD:0022531,GARD:0005667,,Rare genetic disease +GARD:0015773,GARD:0022536,GARD:0003436,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015773,GARD:0022513,GARD:0003436,,Rare developmental defect during embryogenesis +GARD:0015773,GARD:0022524,GARD:0003436,,Rare neurologic disease +GARD:0015773,GARD:0022531,GARD:0003436,,Rare genetic disease +GARD:0015773,GARD:0022520,GARD:0003436,,Rare ophthalmic disorder +GARD:0015773,GARD:0022534,GARD:0003436,,Rare abdominal surgical disease +GARD:0015773,GARD:0022528,GARD:0003436,,Rare otorhinolaryngologic disease +GARD:0015773,GARD:0022507,GARD:0003436,,Rare maxillo-facial surgical disease +GARD:0015773,GARD:0022512,GARD:0003436,,Rare renal disease +GARD:0015773,GARD:0022511,GARD:0003436,,Rare bone disease +GARD:0015774,GARD:0022524,GARD:0003976,,Rare neurologic disease +GARD:0015774,GARD:0022531,GARD:0003976,,Rare genetic disease +GARD:0015775,GARD:0022524,GARD:0005739,,Rare neurologic disease +GARD:0015775,GARD:0022520,GARD:0005739,,Rare ophthalmic disorder +GARD:0015775,GARD:0022513,GARD:0005739,,Rare developmental defect during embryogenesis +GARD:0015775,GARD:0022531,GARD:0005739,,Rare genetic disease +GARD:0015775,GARD:0022510,GARD:0005739,,Rare skin disease +GARD:0015775,GARD:0022511,GARD:0005739,,Rare bone disease +GARD:0015776,GARD:0022536,GARD:0007459,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015776,GARD:0022506,GARD:0007459,,Rare hepatic disease +GARD:0015777,GARD:0022506,GARD:0007459,,Rare hepatic disease +GARD:0015777,GARD:0022536,GARD:0007459,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015778,GARD:0022520,GARD:0005534,,Rare ophthalmic disorder +GARD:0015778,GARD:0022524,GARD:0005534,,Rare neurologic disease +GARD:0015778,GARD:0022531,GARD:0005534,,Rare genetic disease +GARD:0015778,GARD:0022513,GARD:0005534,,Rare developmental defect during embryogenesis +GARD:0015779,GARD:0022524,GARD:0007162,,Rare neurologic disease +GARD:0015780,GARD:0022524,GARD:0005534,,Rare neurologic disease +GARD:0015780,GARD:0022513,GARD:0005534,,Rare developmental defect during embryogenesis +GARD:0015780,GARD:0022531,GARD:0005534,,Rare genetic disease +GARD:0015780,GARD:0022520,GARD:0005534,,Rare ophthalmic disorder +GARD:0015781,GARD:0022531,GARD:0009170,,Rare genetic disease +GARD:0015781,GARD:0022510,GARD:0009170,,Rare skin disease +GARD:0015782,GARD:0022531,GARD:0009170,,Rare genetic disease +GARD:0015782,GARD:0022510,GARD:0009170,,Rare skin disease +GARD:0015783,GARD:0022524,GARD:0007162,,Rare neurologic disease +GARD:0015784,GARD:0022524,GARD:0006808,,Rare neurologic disease +GARD:0015784,GARD:0022531,GARD:0006808,,Rare genetic disease +GARD:0015785,GARD:0022514,GARD:0015010,,Rare gynecologic or obstetric disease +GARD:0015785,GARD:0022531,GARD:0015010,,Rare genetic disease +GARD:0015785,GARD:0022535,GARD:0015010,,Rare neoplastic disease +GARD:0015786,GARD:0022531,GARD:0004771,,Rare genetic disease +GARD:0015786,GARD:0022511,GARD:0004771,,Rare bone disease +GARD:0015786,GARD:0022513,GARD:0004771,,Rare developmental defect during embryogenesis +GARD:0015787,GARD:0022524,GARD:0010046,,Rare neurologic disease +GARD:0015787,GARD:0022506,GARD:0010046,,Rare hepatic disease +GARD:0015787,GARD:0022508,GARD:0010046,,Rare inborn errors of metabolism +GARD:0015787,GARD:0022536,GARD:0010046,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015787,GARD:0022531,GARD:0010046,,Rare genetic disease +GARD:0015788,GARD:0022531,GARD:0004206,,Rare genetic disease +GARD:0015788,GARD:0022535,GARD:0004206,,Rare neoplastic disease +GARD:0015788,GARD:0022516,GARD:0004206,,Rare gastroenterologic disease +GARD:0015789,GARD:0022516,GARD:0009905,,Rare gastroenterologic disease +GARD:0015789,GARD:0022535,GARD:0009905,,Rare neoplastic disease +GARD:0015789,GARD:0022531,GARD:0009905,,Rare genetic disease +GARD:0015790,GARD:0022524,GARD:0000787,,Rare neurologic disease +GARD:0015790,GARD:0022513,GARD:0000787,,Rare developmental defect during embryogenesis +GARD:0015790,GARD:0022531,GARD:0000787,,Rare genetic disease +GARD:0015791,GARD:0022535,GARD:0009905,,Rare neoplastic disease +GARD:0015791,GARD:0022516,GARD:0009905,,Rare gastroenterologic disease +GARD:0015791,GARD:0022531,GARD:0009905,,Rare genetic disease +GARD:0015792,GARD:0022531,GARD:0009905,,Rare genetic disease +GARD:0015792,GARD:0022516,GARD:0009905,,Rare gastroenterologic disease +GARD:0015792,GARD:0022535,GARD:0009905,,Rare neoplastic disease +GARD:0015793,GARD:0022517,GARD:0004582,,Rare respiratory disease +GARD:0015793,GARD:0022531,GARD:0004582,,Rare genetic disease +GARD:0015793,GARD:0022536,GARD:0004582,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015793,GARD:0022523,GARD:0004582,,Rare immune disease +GARD:0015794,GARD:0022531,GARD:0011901,,Rare genetic disease +GARD:0015794,GARD:0022524,GARD:0011901,,Rare neurologic disease +GARD:0015795,GARD:0022517,GARD:0003049,,Rare respiratory disease +GARD:0015795,GARD:0022512,GARD:0003049,,Rare renal disease +GARD:0015795,GARD:0022536,GARD:0003049,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015795,GARD:0022513,GARD:0003049,,Rare developmental defect during embryogenesis +GARD:0015795,GARD:0022511,GARD:0003049,,Rare bone disease +GARD:0015795,GARD:0022531,GARD:0003049,,Rare genetic disease +GARD:0015796,GARD:0022517,GARD:0000359,,Rare respiratory disease +GARD:0015796,GARD:0022511,GARD:0000359,,Rare bone disease +GARD:0015796,GARD:0022513,GARD:0000359,,Rare developmental defect during embryogenesis +GARD:0015796,GARD:0022510,GARD:0000359,,Rare skin disease +GARD:0015796,GARD:0022512,GARD:0000359,,Rare renal disease +GARD:0015796,GARD:0022520,GARD:0000359,,Rare ophthalmic disorder +GARD:0015796,GARD:0022531,GARD:0000359,,Rare genetic disease +GARD:0015796,GARD:0022536,GARD:0000359,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015797,GARD:0022531,GARD:0015025,,Rare genetic disease +GARD:0015797,GARD:0022523,GARD:0015025,,Rare immune disease +GARD:0015798,GARD:0022531,GARD:0015025,,Rare genetic disease +GARD:0015798,GARD:0022523,GARD:0015025,,Rare immune disease +GARD:0015799,GARD:0022516,GARD:0009905,,Rare gastroenterologic disease +GARD:0015799,GARD:0022531,GARD:0009905,,Rare genetic disease +GARD:0015799,GARD:0022535,GARD:0009905,,Rare neoplastic disease +GARD:0015800,GARD:0022513,GARD:0009508,,Rare developmental defect during embryogenesis +GARD:0015800,GARD:0022520,GARD:0009508,,Rare ophthalmic disorder +GARD:0015800,GARD:0022531,GARD:0009508,,Rare genetic disease +GARD:0015801,GARD:0022512,GARD:0010169,,Rare renal disease +GARD:0015801,GARD:0022520,GARD:0010169,,Rare ophthalmic disorder +GARD:0015801,GARD:0022531,GARD:0010169,,Rare genetic disease +GARD:0015801,GARD:0022531,GARD:0010168,,Rare genetic disease +GARD:0015801,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0015801,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0015801,GARD:0022513,GARD:0010169,,Rare developmental defect during embryogenesis +GARD:0015801,GARD:0022531,GARD:0009455,,Rare genetic disease +GARD:0015801,GARD:0022512,GARD:0009455,,Rare renal disease +GARD:0015801,GARD:0022536,GARD:0010169,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015801,GARD:0022524,GARD:0010169,,Rare neurologic disease +GARD:0015801,GARD:0022520,GARD:0009455,,Rare ophthalmic disorder +GARD:0015801,GARD:0022513,GARD:0010168,,Rare developmental defect during embryogenesis +GARD:0015801,GARD:0022524,GARD:0010168,,Rare neurologic disease +GARD:0015801,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0015801,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0015801,GARD:0022520,GARD:0010168,,Rare ophthalmic disorder +GARD:0015801,GARD:0022513,GARD:0009455,,Rare developmental defect during embryogenesis +GARD:0015801,GARD:0022524,GARD:0009455,,Rare neurologic disease +GARD:0015801,GARD:0022536,GARD:0009455,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015802,GARD:0022513,GARD:0001639,,Rare developmental defect during embryogenesis +GARD:0015802,GARD:0022531,GARD:0001639,,Rare genetic disease +GARD:0015802,GARD:0022534,GARD:0001639,,Rare abdominal surgical disease +GARD:0015802,GARD:0022518,GARD:0001639,,Rare surgical thoracic disease +GARD:0015802,GARD:0022510,GARD:0001639,,Rare skin disease +GARD:0015803,GARD:0022513,GARD:0006739,,Rare developmental defect during embryogenesis +GARD:0015803,GARD:0022519,GARD:0006739,,Rare surgical cardiac disease +GARD:0015804,GARD:0022518,GARD:0008480,,Rare surgical thoracic disease +GARD:0015804,GARD:0022531,GARD:0008480,,Rare genetic disease +GARD:0015804,GARD:0022513,GARD:0008480,,Rare developmental defect during embryogenesis +GARD:0015804,GARD:0022510,GARD:0008480,,Rare skin disease +GARD:0015804,GARD:0022527,GARD:0008480,,Rare circulatory system disease +GARD:0015804,GARD:0022534,GARD:0008480,,Rare abdominal surgical disease +GARD:0015805,GARD:0022510,GARD:0007299,,Rare skin disease +GARD:0015805,GARD:0022513,GARD:0007299,,Rare developmental defect during embryogenesis +GARD:0015805,GARD:0022511,GARD:0007299,,Rare bone disease +GARD:0015805,GARD:0022531,GARD:0007299,,Rare genetic disease +GARD:0015806,GARD:0022513,GARD:0010168,,Rare developmental defect during embryogenesis +GARD:0015806,GARD:0022520,GARD:0010168,,Rare ophthalmic disorder +GARD:0015806,GARD:0022524,GARD:0010168,,Rare neurologic disease +GARD:0015806,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0015806,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0015806,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0015806,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0015806,GARD:0022531,GARD:0010168,,Rare genetic disease +GARD:0015807,GARD:0022536,GARD:0009455,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015807,GARD:0022512,GARD:0009455,,Rare renal disease +GARD:0015807,GARD:0022531,GARD:0009455,,Rare genetic disease +GARD:0015807,GARD:0022524,GARD:0009455,,Rare neurologic disease +GARD:0015807,GARD:0022520,GARD:0009455,,Rare ophthalmic disorder +GARD:0015807,GARD:0022513,GARD:0009455,,Rare developmental defect during embryogenesis +GARD:0015808,GARD:0022531,GARD:0002258,,Rare genetic disease +GARD:0015808,GARD:0022524,GARD:0002258,,Rare neurologic disease +GARD:0015808,GARD:0022513,GARD:0002258,,Rare developmental defect during embryogenesis +GARD:0015809,GARD:0022523,GARD:0007895,,Rare immune disease +GARD:0015809,GARD:0022531,GARD:0007895,,Rare genetic disease +GARD:0015809,GARD:0022522,GARD:0007895,,Rare hematologic disease +GARD:0015809,GARD:0022536,GARD:0007895,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015809,GARD:0022535,GARD:0007895,,Rare neoplastic disease +GARD:0015809,GARD:0022510,GARD:0007895,,Rare skin disease +GARD:0015810,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015810,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015810,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015811,GARD:0022531,GARD:0003644,,Rare genetic disease +GARD:0015811,GARD:0022513,GARD:0003644,,Rare developmental defect during embryogenesis +GARD:0015811,GARD:0022520,GARD:0003644,,Rare ophthalmic disorder +GARD:0015812,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0015812,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0015813,GARD:0022531,GARD:0005442,,Rare genetic disease +GARD:0015813,GARD:0022528,GARD:0005442,,Rare otorhinolaryngologic disease +GARD:0015813,GARD:0022520,GARD:0005442,,Rare ophthalmic disorder +GARD:0015813,GARD:0022513,GARD:0005442,,Rare developmental defect during embryogenesis +GARD:0015814,GARD:0022524,GARD:0012551,,Rare neurologic disease +GARD:0015814,GARD:0022531,GARD:0012551,,Rare genetic disease +GARD:0015815,GARD:0022513,GARD:0002321,,Rare developmental defect during embryogenesis +GARD:0015815,GARD:0022511,GARD:0002321,,Rare bone disease +GARD:0015815,GARD:0022531,GARD:0002321,,Rare genetic disease +GARD:0015816,GARD:0022520,GARD:0003995,,Rare ophthalmic disorder +GARD:0015816,GARD:0022531,GARD:0003995,,Rare genetic disease +GARD:0015817,GARD:0022513,GARD:0005279,,Rare developmental defect during embryogenesis +GARD:0015817,GARD:0022524,GARD:0005279,,Rare neurologic disease +GARD:0015817,GARD:0022531,GARD:0005279,,Rare genetic disease +GARD:0015817,GARD:0022520,GARD:0005279,,Rare ophthalmic disorder +GARD:0015818,GARD:0022531,GARD:0004075,,Rare genetic disease +GARD:0015818,GARD:0022510,GARD:0004075,,Rare skin disease +GARD:0015819,GARD:0022531,GARD:0005258,,Rare genetic disease +GARD:0015819,GARD:0022516,GARD:0005258,,Rare gastroenterologic disease +GARD:0015819,GARD:0022536,GARD:0005258,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015819,GARD:0022523,GARD:0005258,,Rare immune disease +GARD:0015819,GARD:0022525,GARD:0005258,,Rare systemic or rheumatologic disease +GARD:0015819,GARD:0021079,GARD:0005258,,Rare systemic or rheumatological disease of childhood +GARD:0015819,GARD:0022506,GARD:0005258,,Rare hepatic disease +GARD:0015820,GARD:0022531,GARD:0006124,,Rare genetic disease +GARD:0015820,GARD:0022524,GARD:0006124,,Rare neurologic disease +GARD:0015820,GARD:0022513,GARD:0006124,,Rare developmental defect during embryogenesis +GARD:0015820,GARD:0022511,GARD:0006124,,Rare bone disease +GARD:0015821,GARD:0022531,GARD:0006124,,Rare genetic disease +GARD:0015821,GARD:0022513,GARD:0006124,,Rare developmental defect during embryogenesis +GARD:0015821,GARD:0022511,GARD:0006124,,Rare bone disease +GARD:0015821,GARD:0022524,GARD:0006124,,Rare neurologic disease +GARD:0015822,GARD:0022511,GARD:0006124,,Rare bone disease +GARD:0015822,GARD:0022531,GARD:0006124,,Rare genetic disease +GARD:0015822,GARD:0022524,GARD:0006124,,Rare neurologic disease +GARD:0015822,GARD:0022513,GARD:0006124,,Rare developmental defect during embryogenesis +GARD:0015823,GARD:0022513,GARD:0005724,,Rare developmental defect during embryogenesis +GARD:0015823,GARD:0022511,GARD:0017300,,Rare bone disease +GARD:0015823,GARD:0022507,GARD:0017300,,Rare maxillo-facial surgical disease +GARD:0015823,GARD:0022511,GARD:0005724,,Rare bone disease +GARD:0015823,GARD:0022531,GARD:0005724,,Rare genetic disease +GARD:0015823,GARD:0022507,GARD:0005724,,Rare maxillo-facial surgical disease +GARD:0015823,GARD:0022528,GARD:0005724,,Rare otorhinolaryngologic disease +GARD:0015823,GARD:0022513,GARD:0017300,,Rare developmental defect during embryogenesis +GARD:0015823,GARD:0022528,GARD:0017300,,Rare otorhinolaryngologic disease +GARD:0015823,GARD:0022521,GARD:0017300,,Rare endocrine disease +GARD:0015823,GARD:0022531,GARD:0017300,,Rare genetic disease +GARD:0015824,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0015824,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0015824,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0015824,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0015825,GARD:0022508,GARD:0003129,,Rare inborn errors of metabolism +GARD:0015825,GARD:0022531,GARD:0003129,,Rare genetic disease +GARD:0015825,GARD:0022524,GARD:0003129,,Rare neurologic disease +GARD:0015826,GARD:0022531,GARD:0003129,,Rare genetic disease +GARD:0015826,GARD:0022508,GARD:0003129,,Rare inborn errors of metabolism +GARD:0015826,GARD:0022524,GARD:0003129,,Rare neurologic disease +GARD:0015827,GARD:0022510,GARD:0010947,,Rare skin disease +GARD:0015827,GARD:0022531,GARD:0010947,,Rare genetic disease +GARD:0015828,GARD:0022531,GARD:0010947,,Rare genetic disease +GARD:0015828,GARD:0022510,GARD:0010947,,Rare skin disease +GARD:0015829,GARD:0022524,GARD:0002599,,Rare neurologic disease +GARD:0015829,GARD:0022520,GARD:0002599,,Rare ophthalmic disorder +GARD:0015829,GARD:0022531,GARD:0002599,,Rare genetic disease +GARD:0015829,GARD:0022508,GARD:0002599,,Rare inborn errors of metabolism +GARD:0015829,GARD:0022513,GARD:0002599,,Rare developmental defect during embryogenesis +GARD:0015830,GARD:0022531,GARD:0009882,,Rare genetic disease +GARD:0015830,GARD:0022514,GARD:0009882,,Rare gynecologic or obstetric disease +GARD:0015830,GARD:0022521,GARD:0009882,,Rare endocrine disease +GARD:0015831,GARD:0022528,GARD:0009798,,Rare otorhinolaryngologic disease +GARD:0015831,GARD:0022511,GARD:0009798,,Rare bone disease +GARD:0015831,GARD:0022513,GARD:0009798,,Rare developmental defect during embryogenesis +GARD:0015831,GARD:0022507,GARD:0009798,,Rare maxillo-facial surgical disease +GARD:0015831,GARD:0022531,GARD:0009798,,Rare genetic disease +GARD:0015832,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015832,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015832,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015833,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0015833,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0015833,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0015833,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0015834,GARD:0022513,GARD:0010704,,Rare developmental defect during embryogenesis +GARD:0015834,GARD:0022524,GARD:0010704,,Rare neurologic disease +GARD:0015834,GARD:0022531,GARD:0010704,,Rare genetic disease +GARD:0015835,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015835,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015835,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015836,GARD:0022531,GARD:0006140,,Rare genetic disease +GARD:0015836,GARD:0022535,GARD:0006140,,Rare neoplastic disease +GARD:0015836,GARD:0022523,GARD:0006140,,Rare immune disease +GARD:0015837,GARD:0022507,GARD:0010109,,Rare maxillo-facial surgical disease +GARD:0015837,GARD:0022520,GARD:0010109,,Rare ophthalmic disorder +GARD:0015837,GARD:0022528,GARD:0010109,,Rare otorhinolaryngologic disease +GARD:0015837,GARD:0022513,GARD:0010109,,Rare developmental defect during embryogenesis +GARD:0015837,GARD:0022511,GARD:0010109,,Rare bone disease +GARD:0015837,GARD:0022518,GARD:0010109,,Rare surgical thoracic disease +GARD:0015837,GARD:0022534,GARD:0010109,,Rare abdominal surgical disease +GARD:0015837,GARD:0022524,GARD:0010109,,Rare neurologic disease +GARD:0015837,GARD:0022531,GARD:0010109,,Rare genetic disease +GARD:0015838,GARD:0022510,GARD:0010983,,Rare skin disease +GARD:0015838,GARD:0022531,GARD:0010983,,Rare genetic disease +GARD:0015839,GARD:0022531,GARD:0004520,,Rare genetic disease +GARD:0015839,GARD:0022532,GARD:0004520,,Rare urogenital disease +GARD:0015839,GARD:0022535,GARD:0004520,,Rare neoplastic disease +GARD:0015840,GARD:0022531,GARD:0002498,,Rare genetic disease +GARD:0015840,GARD:0022524,GARD:0002498,,Rare neurologic disease +GARD:0015840,GARD:0022521,GARD:0002498,,Rare endocrine disease +GARD:0015841,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0015842,GARD:0022531,GARD:0005739,,Rare genetic disease +GARD:0015842,GARD:0022513,GARD:0005739,,Rare developmental defect during embryogenesis +GARD:0015842,GARD:0022524,GARD:0005739,,Rare neurologic disease +GARD:0015842,GARD:0022511,GARD:0005739,,Rare bone disease +GARD:0015842,GARD:0022520,GARD:0005739,,Rare ophthalmic disorder +GARD:0015842,GARD:0022510,GARD:0005739,,Rare skin disease +GARD:0015843,GARD:0022524,GARD:0004412,,Rare neurologic disease +GARD:0015843,GARD:0022528,GARD:0004412,,Rare otorhinolaryngologic disease +GARD:0015843,GARD:0022520,GARD:0004412,,Rare ophthalmic disorder +GARD:0015843,GARD:0022531,GARD:0004412,,Rare genetic disease +GARD:0015843,GARD:0022507,GARD:0004412,,Rare maxillo-facial surgical disease +GARD:0015843,GARD:0022511,GARD:0004412,,Rare bone disease +GARD:0015843,GARD:0022513,GARD:0004412,,Rare developmental defect during embryogenesis +GARD:0015844,GARD:0022520,GARD:0004936,,Rare ophthalmic disorder +GARD:0015844,GARD:0022513,GARD:0004936,,Rare developmental defect during embryogenesis +GARD:0015844,GARD:0022511,GARD:0004936,,Rare bone disease +GARD:0015844,GARD:0022531,GARD:0004936,,Rare genetic disease +GARD:0015845,GARD:0022524,GARD:0000011,,Rare neurologic disease +GARD:0015845,GARD:0022531,GARD:0000011,,Rare genetic disease +GARD:0015846,GARD:0022513,GARD:0002599,,Rare developmental defect during embryogenesis +GARD:0015846,GARD:0022508,GARD:0002599,,Rare inborn errors of metabolism +GARD:0015846,GARD:0022531,GARD:0002599,,Rare genetic disease +GARD:0015846,GARD:0022524,GARD:0002599,,Rare neurologic disease +GARD:0015846,GARD:0022520,GARD:0002599,,Rare ophthalmic disorder +GARD:0015847,GARD:0022531,GARD:0008349,,Rare genetic disease +GARD:0015847,GARD:0022526,GARD:0008349,,Rare odontologic disease +GARD:0015848,GARD:0022524,GARD:0010814,,Rare neurologic disease +GARD:0015849,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0015849,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0015849,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0015849,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0015849,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0015849,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0015849,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0015849,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0015850,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0015850,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0015850,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0015850,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0015850,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0015850,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0015850,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0015850,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0015851,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0015851,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0015851,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0015851,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0015851,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0015851,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0015851,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0015851,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0015852,GARD:0022531,GARD:0000322,,Rare genetic disease +GARD:0015852,GARD:0022512,GARD:0000322,,Rare renal disease +GARD:0015852,GARD:0022536,GARD:0000322,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015852,GARD:0022520,GARD:0000322,,Rare ophthalmic disorder +GARD:0015853,GARD:0022523,GARD:0006649,,Rare immune disease +GARD:0015853,GARD:0022524,GARD:0006649,,Rare neurologic disease +GARD:0015853,GARD:0022531,GARD:0006649,,Rare genetic disease +GARD:0015853,GARD:0022509,GARD:0006649,,Rare infectious disease +GARD:0015854,GARD:0022524,GARD:0006649,,Rare neurologic disease +GARD:0015854,GARD:0022523,GARD:0006649,,Rare immune disease +GARD:0015854,GARD:0022531,GARD:0006649,,Rare genetic disease +GARD:0015854,GARD:0022509,GARD:0006649,,Rare infectious disease +GARD:0015855,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0015855,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0015855,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0015855,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0015856,GARD:0022511,GARD:0008695,,Rare bone disease +GARD:0015856,GARD:0022526,GARD:0008695,,Rare odontologic disease +GARD:0015856,GARD:0022513,GARD:0008695,,Rare developmental defect during embryogenesis +GARD:0015856,GARD:0022520,GARD:0008695,,Rare ophthalmic disorder +GARD:0015856,GARD:0022531,GARD:0008695,,Rare genetic disease +GARD:0015857,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0015857,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0015857,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0015857,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0015857,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0015857,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0015857,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0015857,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0015858,GARD:0022508,GARD:0007917,,Rare inborn errors of metabolism +GARD:0015858,GARD:0022536,GARD:0007917,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015858,GARD:0022512,GARD:0007917,,Rare renal disease +GARD:0015858,GARD:0022520,GARD:0007917,,Rare ophthalmic disorder +GARD:0015858,GARD:0022524,GARD:0007917,,Rare neurologic disease +GARD:0015858,GARD:0022513,GARD:0007917,,Rare developmental defect during embryogenesis +GARD:0015858,GARD:0022531,GARD:0007917,,Rare genetic disease +GARD:0015858,GARD:0022506,GARD:0007917,,Rare hepatic disease +GARD:0015859,GARD:0022536,GARD:0007917,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015859,GARD:0022520,GARD:0007917,,Rare ophthalmic disorder +GARD:0015859,GARD:0022524,GARD:0007917,,Rare neurologic disease +GARD:0015859,GARD:0022506,GARD:0007917,,Rare hepatic disease +GARD:0015859,GARD:0022512,GARD:0007917,,Rare renal disease +GARD:0015859,GARD:0022508,GARD:0007917,,Rare inborn errors of metabolism +GARD:0015859,GARD:0022513,GARD:0007917,,Rare developmental defect during embryogenesis +GARD:0015859,GARD:0022531,GARD:0007917,,Rare genetic disease +GARD:0015860,GARD:0022524,GARD:0004648,,Rare neurologic disease +GARD:0015860,GARD:0022513,GARD:0004648,,Rare developmental defect during embryogenesis +GARD:0015860,GARD:0022520,GARD:0000559,,Rare ophthalmic disorder +GARD:0015860,GARD:0022506,GARD:0000559,,Rare hepatic disease +GARD:0015860,GARD:0022521,GARD:0000559,,Rare endocrine disease +GARD:0015860,GARD:0022531,GARD:0004648,,Rare genetic disease +GARD:0015860,GARD:0022531,GARD:0000559,,Rare genetic disease +GARD:0015860,GARD:0022508,GARD:0004648,,Rare inborn errors of metabolism +GARD:0015860,GARD:0022524,GARD:0000559,,Rare neurologic disease +GARD:0015860,GARD:0022506,GARD:0004648,,Rare hepatic disease +GARD:0015860,GARD:0022508,GARD:0000559,,Rare inborn errors of metabolism +GARD:0015860,GARD:0022520,GARD:0004648,,Rare ophthalmic disorder +GARD:0015861,GARD:0022531,GARD:0007917,,Rare genetic disease +GARD:0015861,GARD:0022524,GARD:0007917,,Rare neurologic disease +GARD:0015861,GARD:0022520,GARD:0007917,,Rare ophthalmic disorder +GARD:0015861,GARD:0022508,GARD:0007917,,Rare inborn errors of metabolism +GARD:0015861,GARD:0022506,GARD:0007917,,Rare hepatic disease +GARD:0015861,GARD:0022536,GARD:0007917,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015861,GARD:0022513,GARD:0007917,,Rare developmental defect during embryogenesis +GARD:0015861,GARD:0022512,GARD:0007917,,Rare renal disease +GARD:0015862,GARD:0022508,GARD:0004648,,Rare inborn errors of metabolism +GARD:0015862,GARD:0022513,GARD:0004648,,Rare developmental defect during embryogenesis +GARD:0015862,GARD:0022531,GARD:0000559,,Rare genetic disease +GARD:0015862,GARD:0022520,GARD:0000559,,Rare ophthalmic disorder +GARD:0015862,GARD:0022506,GARD:0004648,,Rare hepatic disease +GARD:0015862,GARD:0022521,GARD:0000559,,Rare endocrine disease +GARD:0015862,GARD:0022506,GARD:0000559,,Rare hepatic disease +GARD:0015862,GARD:0022524,GARD:0004648,,Rare neurologic disease +GARD:0015862,GARD:0022520,GARD:0004648,,Rare ophthalmic disorder +GARD:0015862,GARD:0022508,GARD:0000559,,Rare inborn errors of metabolism +GARD:0015862,GARD:0022531,GARD:0004648,,Rare genetic disease +GARD:0015862,GARD:0022524,GARD:0000559,,Rare neurologic disease +GARD:0015863,GARD:0022531,GARD:0005435,,Rare genetic disease +GARD:0015863,GARD:0022528,GARD:0005435,,Rare otorhinolaryngologic disease +GARD:0015863,GARD:0022513,GARD:0005435,,Rare developmental defect during embryogenesis +GARD:0015863,GARD:0022520,GARD:0005435,,Rare ophthalmic disorder +GARD:0015864,GARD:0022524,GARD:0007917,,Rare neurologic disease +GARD:0015864,GARD:0022508,GARD:0007917,,Rare inborn errors of metabolism +GARD:0015864,GARD:0022536,GARD:0007917,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015864,GARD:0022520,GARD:0007917,,Rare ophthalmic disorder +GARD:0015864,GARD:0022531,GARD:0007917,,Rare genetic disease +GARD:0015864,GARD:0022513,GARD:0007917,,Rare developmental defect during embryogenesis +GARD:0015864,GARD:0022512,GARD:0007917,,Rare renal disease +GARD:0015864,GARD:0022506,GARD:0007917,,Rare hepatic disease +GARD:0015865,GARD:0022520,GARD:0004648,,Rare ophthalmic disorder +GARD:0015865,GARD:0022531,GARD:0004648,,Rare genetic disease +GARD:0015865,GARD:0022520,GARD:0000559,,Rare ophthalmic disorder +GARD:0015865,GARD:0022531,GARD:0000559,,Rare genetic disease +GARD:0015865,GARD:0022521,GARD:0000559,,Rare endocrine disease +GARD:0015865,GARD:0022508,GARD:0004648,,Rare inborn errors of metabolism +GARD:0015865,GARD:0022524,GARD:0000559,,Rare neurologic disease +GARD:0015865,GARD:0022506,GARD:0000559,,Rare hepatic disease +GARD:0015865,GARD:0022506,GARD:0004648,,Rare hepatic disease +GARD:0015865,GARD:0022524,GARD:0004648,,Rare neurologic disease +GARD:0015865,GARD:0022513,GARD:0004648,,Rare developmental defect during embryogenesis +GARD:0015865,GARD:0022508,GARD:0000559,,Rare inborn errors of metabolism +GARD:0015866,GARD:0022520,GARD:0007917,,Rare ophthalmic disorder +GARD:0015866,GARD:0022531,GARD:0007917,,Rare genetic disease +GARD:0015866,GARD:0022524,GARD:0007917,,Rare neurologic disease +GARD:0015866,GARD:0022536,GARD:0007917,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015866,GARD:0022513,GARD:0007917,,Rare developmental defect during embryogenesis +GARD:0015866,GARD:0022512,GARD:0007917,,Rare renal disease +GARD:0015866,GARD:0022508,GARD:0007917,,Rare inborn errors of metabolism +GARD:0015866,GARD:0022506,GARD:0007917,,Rare hepatic disease +GARD:0015867,GARD:0022508,GARD:0000559,,Rare inborn errors of metabolism +GARD:0015867,GARD:0022513,GARD:0004648,,Rare developmental defect during embryogenesis +GARD:0015867,GARD:0022506,GARD:0000559,,Rare hepatic disease +GARD:0015867,GARD:0022531,GARD:0000559,,Rare genetic disease +GARD:0015867,GARD:0022524,GARD:0000559,,Rare neurologic disease +GARD:0015867,GARD:0022521,GARD:0000559,,Rare endocrine disease +GARD:0015867,GARD:0022506,GARD:0004648,,Rare hepatic disease +GARD:0015867,GARD:0022531,GARD:0004648,,Rare genetic disease +GARD:0015867,GARD:0022524,GARD:0004648,,Rare neurologic disease +GARD:0015867,GARD:0022508,GARD:0004648,,Rare inborn errors of metabolism +GARD:0015867,GARD:0022520,GARD:0004648,,Rare ophthalmic disorder +GARD:0015867,GARD:0022520,GARD:0000559,,Rare ophthalmic disorder +GARD:0015868,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015868,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015868,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015869,GARD:0022536,GARD:0007917,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015869,GARD:0022508,GARD:0007917,,Rare inborn errors of metabolism +GARD:0015869,GARD:0022512,GARD:0007917,,Rare renal disease +GARD:0015869,GARD:0022513,GARD:0007917,,Rare developmental defect during embryogenesis +GARD:0015869,GARD:0022531,GARD:0007917,,Rare genetic disease +GARD:0015869,GARD:0022524,GARD:0007917,,Rare neurologic disease +GARD:0015869,GARD:0022520,GARD:0007917,,Rare ophthalmic disorder +GARD:0015869,GARD:0022506,GARD:0007917,,Rare hepatic disease +GARD:0015870,GARD:0022520,GARD:0004648,,Rare ophthalmic disorder +GARD:0015870,GARD:0022521,GARD:0000559,,Rare endocrine disease +GARD:0015870,GARD:0022531,GARD:0004648,,Rare genetic disease +GARD:0015870,GARD:0022508,GARD:0004648,,Rare inborn errors of metabolism +GARD:0015870,GARD:0022506,GARD:0004648,,Rare hepatic disease +GARD:0015870,GARD:0022520,GARD:0000559,,Rare ophthalmic disorder +GARD:0015870,GARD:0022508,GARD:0000559,,Rare inborn errors of metabolism +GARD:0015870,GARD:0022524,GARD:0000559,,Rare neurologic disease +GARD:0015870,GARD:0022513,GARD:0004648,,Rare developmental defect during embryogenesis +GARD:0015870,GARD:0022531,GARD:0000559,,Rare genetic disease +GARD:0015870,GARD:0022506,GARD:0000559,,Rare hepatic disease +GARD:0015870,GARD:0022524,GARD:0004648,,Rare neurologic disease +GARD:0015871,GARD:0022524,GARD:0005691,,Rare neurologic disease +GARD:0015871,GARD:0022536,GARD:0005691,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015871,GARD:0022531,GARD:0005691,,Rare genetic disease +GARD:0015871,GARD:0022520,GARD:0005691,,Rare ophthalmic disorder +GARD:0015871,GARD:0022508,GARD:0005691,,Rare inborn errors of metabolism +GARD:0015871,GARD:0022510,GARD:0005691,,Rare skin disease +GARD:0015872,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0015872,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0015872,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0015872,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0015872,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0015872,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0015872,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0015872,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0015873,GARD:0022520,GARD:0007917,,Rare ophthalmic disorder +GARD:0015873,GARD:0022512,GARD:0007917,,Rare renal disease +GARD:0015873,GARD:0022513,GARD:0007917,,Rare developmental defect during embryogenesis +GARD:0015873,GARD:0022508,GARD:0007917,,Rare inborn errors of metabolism +GARD:0015873,GARD:0022506,GARD:0007917,,Rare hepatic disease +GARD:0015873,GARD:0022536,GARD:0007917,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015873,GARD:0022524,GARD:0007917,,Rare neurologic disease +GARD:0015873,GARD:0022531,GARD:0007917,,Rare genetic disease +GARD:0015874,GARD:0022524,GARD:0007917,,Rare neurologic disease +GARD:0015874,GARD:0022536,GARD:0007917,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015874,GARD:0022512,GARD:0007917,,Rare renal disease +GARD:0015874,GARD:0022520,GARD:0007917,,Rare ophthalmic disorder +GARD:0015874,GARD:0022513,GARD:0007917,,Rare developmental defect during embryogenesis +GARD:0015874,GARD:0022508,GARD:0007917,,Rare inborn errors of metabolism +GARD:0015874,GARD:0022506,GARD:0007917,,Rare hepatic disease +GARD:0015874,GARD:0022531,GARD:0007917,,Rare genetic disease +GARD:0015875,GARD:0022521,GARD:0000559,,Rare endocrine disease +GARD:0015875,GARD:0022524,GARD:0004648,,Rare neurologic disease +GARD:0015875,GARD:0022508,GARD:0004648,,Rare inborn errors of metabolism +GARD:0015875,GARD:0022513,GARD:0004648,,Rare developmental defect during embryogenesis +GARD:0015875,GARD:0022520,GARD:0004648,,Rare ophthalmic disorder +GARD:0015875,GARD:0022506,GARD:0004648,,Rare hepatic disease +GARD:0015875,GARD:0022531,GARD:0000559,,Rare genetic disease +GARD:0015875,GARD:0022531,GARD:0004648,,Rare genetic disease +GARD:0015875,GARD:0022508,GARD:0000559,,Rare inborn errors of metabolism +GARD:0015875,GARD:0022524,GARD:0000559,,Rare neurologic disease +GARD:0015875,GARD:0022520,GARD:0000559,,Rare ophthalmic disorder +GARD:0015875,GARD:0022506,GARD:0000559,,Rare hepatic disease +GARD:0015876,GARD:0022520,GARD:0007917,,Rare ophthalmic disorder +GARD:0015876,GARD:0022531,GARD:0007917,,Rare genetic disease +GARD:0015876,GARD:0022506,GARD:0007917,,Rare hepatic disease +GARD:0015876,GARD:0022512,GARD:0007917,,Rare renal disease +GARD:0015876,GARD:0022536,GARD:0007917,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015876,GARD:0022508,GARD:0007917,,Rare inborn errors of metabolism +GARD:0015876,GARD:0022524,GARD:0007917,,Rare neurologic disease +GARD:0015876,GARD:0022513,GARD:0007917,,Rare developmental defect during embryogenesis +GARD:0015877,GARD:0022512,GARD:0007917,,Rare renal disease +GARD:0015877,GARD:0022506,GARD:0007917,,Rare hepatic disease +GARD:0015877,GARD:0022536,GARD:0007917,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015877,GARD:0022508,GARD:0007917,,Rare inborn errors of metabolism +GARD:0015877,GARD:0022513,GARD:0007917,,Rare developmental defect during embryogenesis +GARD:0015877,GARD:0022531,GARD:0007917,,Rare genetic disease +GARD:0015877,GARD:0022520,GARD:0007917,,Rare ophthalmic disorder +GARD:0015877,GARD:0022524,GARD:0007917,,Rare neurologic disease +GARD:0015878,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0015878,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0015878,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0015878,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0015879,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0015879,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0015879,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0015879,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0015879,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0015879,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0015879,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015879,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0015879,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0015880,GARD:0022515,GARD:0004421,,Rare cardiac disease +GARD:0015880,GARD:0022531,GARD:0004421,,Rare genetic disease +GARD:0015881,GARD:0022520,GARD:0000559,,Rare ophthalmic disorder +GARD:0015881,GARD:0022508,GARD:0004648,,Rare inborn errors of metabolism +GARD:0015881,GARD:0022524,GARD:0004648,,Rare neurologic disease +GARD:0015881,GARD:0022531,GARD:0000559,,Rare genetic disease +GARD:0015881,GARD:0022521,GARD:0000559,,Rare endocrine disease +GARD:0015881,GARD:0022506,GARD:0000559,,Rare hepatic disease +GARD:0015881,GARD:0022506,GARD:0004648,,Rare hepatic disease +GARD:0015881,GARD:0022513,GARD:0004648,,Rare developmental defect during embryogenesis +GARD:0015881,GARD:0022524,GARD:0000559,,Rare neurologic disease +GARD:0015881,GARD:0022531,GARD:0004648,,Rare genetic disease +GARD:0015881,GARD:0022520,GARD:0004648,,Rare ophthalmic disorder +GARD:0015881,GARD:0022508,GARD:0000559,,Rare inborn errors of metabolism +GARD:0015882,GARD:0022514,GARD:0002542,,Rare gynecologic or obstetric disease +GARD:0015882,GARD:0022529,GARD:0002542,,Rare infertility +GARD:0015882,GARD:0022513,GARD:0002542,,Rare developmental defect during embryogenesis +GARD:0015882,GARD:0022532,GARD:0002542,,Rare urogenital disease +GARD:0015882,GARD:0022508,GARD:0002542,,Rare inborn errors of metabolism +GARD:0015882,GARD:0022528,GARD:0002542,,Rare otorhinolaryngologic disease +GARD:0015882,GARD:0022531,GARD:0002542,,Rare genetic disease +GARD:0015882,GARD:0022521,GARD:0002542,,Rare endocrine disease +GARD:0015883,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015883,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015883,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015884,GARD:0022531,GARD:0003103,,Rare genetic disease +GARD:0015884,GARD:0022510,GARD:0003103,,Rare skin disease +GARD:0015885,GARD:0022520,GARD:0002057,,Rare ophthalmic disorder +GARD:0015885,GARD:0022526,GARD:0002057,,Rare odontologic disease +GARD:0015885,GARD:0022513,GARD:0002057,,Rare developmental defect during embryogenesis +GARD:0015885,GARD:0022531,GARD:0002057,,Rare genetic disease +GARD:0015885,GARD:0022510,GARD:0002057,,Rare skin disease +GARD:0015886,GARD:0022531,GARD:0012919,,Rare genetic disease +GARD:0015886,GARD:0022524,GARD:0012919,,Rare neurologic disease +GARD:0015887,GARD:0022524,GARD:0010168,,Rare neurologic disease +GARD:0015887,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0015887,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0015887,GARD:0022520,GARD:0010168,,Rare ophthalmic disorder +GARD:0015887,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0015887,GARD:0022531,GARD:0010168,,Rare genetic disease +GARD:0015887,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0015887,GARD:0022513,GARD:0010168,,Rare developmental defect during embryogenesis +GARD:0015888,GARD:0022506,GARD:0009804,,Rare hepatic disease +GARD:0015888,GARD:0022514,GARD:0009804,,Rare gynecologic or obstetric disease +GARD:0015889,GARD:0022513,GARD:0006003,,Rare developmental defect during embryogenesis +GARD:0015889,GARD:0022521,GARD:0006003,,Rare endocrine disease +GARD:0015889,GARD:0022524,GARD:0006003,,Rare neurologic disease +GARD:0015889,GARD:0022531,GARD:0006003,,Rare genetic disease +GARD:0015889,GARD:0022511,GARD:0006003,,Rare bone disease +GARD:0015890,GARD:0022513,GARD:0005435,,Rare developmental defect during embryogenesis +GARD:0015890,GARD:0022531,GARD:0005435,,Rare genetic disease +GARD:0015890,GARD:0022520,GARD:0005435,,Rare ophthalmic disorder +GARD:0015890,GARD:0022528,GARD:0005435,,Rare otorhinolaryngologic disease +GARD:0015891,GARD:0022524,GARD:0011918,,Rare neurologic disease +GARD:0015891,GARD:0022531,GARD:0011918,,Rare genetic disease +GARD:0015892,GARD:0022531,GARD:0007887,,Rare genetic disease +GARD:0015892,GARD:0022524,GARD:0007887,,Rare neurologic disease +GARD:0015893,GARD:0022531,GARD:0006406,,Rare genetic disease +GARD:0015893,GARD:0022524,GARD:0006406,,Rare neurologic disease +GARD:0015894,GARD:0021079,GARD:0000575,,Rare systemic or rheumatological disease of childhood +GARD:0015894,GARD:0022531,GARD:0000575,,Rare genetic disease +GARD:0015894,GARD:0022523,GARD:0000575,,Rare immune disease +GARD:0015894,GARD:0022524,GARD:0000575,,Rare neurologic disease +GARD:0015894,GARD:0022525,GARD:0000575,,Rare systemic or rheumatologic disease +GARD:0015895,GARD:0022510,GARD:0009736,,Rare skin disease +GARD:0015895,GARD:0022520,GARD:0009736,,Rare ophthalmic disorder +GARD:0015895,GARD:0022513,GARD:0009736,,Rare developmental defect during embryogenesis +GARD:0015895,GARD:0022531,GARD:0009736,,Rare genetic disease +GARD:0015896,GARD:0022531,GARD:0009736,,Rare genetic disease +GARD:0015896,GARD:0022520,GARD:0009736,,Rare ophthalmic disorder +GARD:0015896,GARD:0022513,GARD:0009736,,Rare developmental defect during embryogenesis +GARD:0015896,GARD:0022510,GARD:0009736,,Rare skin disease +GARD:0015897,GARD:0022531,GARD:0009736,,Rare genetic disease +GARD:0015897,GARD:0022520,GARD:0009736,,Rare ophthalmic disorder +GARD:0015897,GARD:0022513,GARD:0009736,,Rare developmental defect during embryogenesis +GARD:0015897,GARD:0022510,GARD:0009736,,Rare skin disease +GARD:0015898,GARD:0022513,GARD:0002599,,Rare developmental defect during embryogenesis +GARD:0015898,GARD:0022524,GARD:0002599,,Rare neurologic disease +GARD:0015898,GARD:0022508,GARD:0002599,,Rare inborn errors of metabolism +GARD:0015898,GARD:0022531,GARD:0002599,,Rare genetic disease +GARD:0015898,GARD:0022520,GARD:0002599,,Rare ophthalmic disorder +GARD:0015899,GARD:0022531,GARD:0003995,,Rare genetic disease +GARD:0015899,GARD:0022520,GARD:0003995,,Rare ophthalmic disorder +GARD:0015900,GARD:0022531,GARD:0009170,,Rare genetic disease +GARD:0015900,GARD:0022510,GARD:0009170,,Rare skin disease +GARD:0015901,GARD:0022520,GARD:0008696,,Rare ophthalmic disorder +GARD:0015901,GARD:0022511,GARD:0008696,,Rare bone disease +GARD:0015901,GARD:0022531,GARD:0008696,,Rare genetic disease +GARD:0015901,GARD:0022526,GARD:0008696,,Rare odontologic disease +GARD:0015901,GARD:0022513,GARD:0008696,,Rare developmental defect during embryogenesis +GARD:0015902,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015902,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015902,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015903,GARD:0022513,GARD:0000978,,Rare developmental defect during embryogenesis +GARD:0015903,GARD:0022531,GARD:0000978,,Rare genetic disease +GARD:0015903,GARD:0022511,GARD:0000978,,Rare bone disease +GARD:0015904,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0015904,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0015905,GARD:0022536,GARD:0015012,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015905,GARD:0022513,GARD:0015012,,Rare developmental defect during embryogenesis +GARD:0015905,GARD:0022520,GARD:0015012,,Rare ophthalmic disorder +GARD:0015905,GARD:0022531,GARD:0015012,,Rare genetic disease +GARD:0015905,GARD:0022511,GARD:0015012,,Rare bone disease +GARD:0015906,GARD:0022531,GARD:0010985,,Rare genetic disease +GARD:0015906,GARD:0022515,GARD:0010985,,Rare cardiac disease +GARD:0015907,GARD:0022536,GARD:0000104,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015907,GARD:0022512,GARD:0000104,,Rare renal disease +GARD:0015907,GARD:0022531,GARD:0000104,,Rare genetic disease +GARD:0015907,GARD:0022513,GARD:0000104,,Rare developmental defect during embryogenesis +GARD:0015908,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0015908,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0015908,GARD:0022524,GARD:0015023,,Rare neurologic disease +GARD:0015908,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0015908,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0015908,GARD:0022513,GARD:0015023,,Rare developmental defect during embryogenesis +GARD:0015908,GARD:0022520,GARD:0015023,,Rare ophthalmic disorder +GARD:0015908,GARD:0022531,GARD:0015023,,Rare genetic disease +GARD:0015909,GARD:0022520,GARD:0003644,,Rare ophthalmic disorder +GARD:0015909,GARD:0022513,GARD:0003644,,Rare developmental defect during embryogenesis +GARD:0015909,GARD:0022531,GARD:0003644,,Rare genetic disease +GARD:0015910,GARD:0022508,GARD:0008295,,Rare inborn errors of metabolism +GARD:0015910,GARD:0022531,GARD:0008295,,Rare genetic disease +GARD:0015911,GARD:0022508,GARD:0008295,,Rare inborn errors of metabolism +GARD:0015911,GARD:0022531,GARD:0008295,,Rare genetic disease +GARD:0015912,GARD:0022508,GARD:0008295,,Rare inborn errors of metabolism +GARD:0015912,GARD:0022531,GARD:0008295,,Rare genetic disease +GARD:0015913,GARD:0022508,GARD:0008295,,Rare inborn errors of metabolism +GARD:0015913,GARD:0022531,GARD:0008295,,Rare genetic disease +GARD:0015914,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0015914,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0015915,GARD:0022513,GARD:0000156,,Rare developmental defect during embryogenesis +GARD:0015915,GARD:0022531,GARD:0002599,,Rare genetic disease +GARD:0015915,GARD:0022508,GARD:0002599,,Rare inborn errors of metabolism +GARD:0015915,GARD:0022524,GARD:0002599,,Rare neurologic disease +GARD:0015915,GARD:0022520,GARD:0002599,,Rare ophthalmic disorder +GARD:0015915,GARD:0022508,GARD:0000156,,Rare inborn errors of metabolism +GARD:0015915,GARD:0022531,GARD:0000156,,Rare genetic disease +GARD:0015915,GARD:0022520,GARD:0000156,,Rare ophthalmic disorder +GARD:0015915,GARD:0022513,GARD:0002599,,Rare developmental defect during embryogenesis +GARD:0015915,GARD:0022524,GARD:0000156,,Rare neurologic disease +GARD:0015916,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015916,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015916,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015917,GARD:0022524,GARD:0010905,,Rare neurologic disease +GARD:0015917,GARD:0022523,GARD:0000346,,Rare immune disease +GARD:0015917,GARD:0022513,GARD:0000346,,Rare developmental defect during embryogenesis +GARD:0015917,GARD:0022522,GARD:0000346,,Rare hematologic disease +GARD:0015917,GARD:0022520,GARD:0010905,,Rare ophthalmic disorder +GARD:0015917,GARD:0022513,GARD:0010905,,Rare developmental defect during embryogenesis +GARD:0015917,GARD:0022523,GARD:0010905,,Rare immune disease +GARD:0015917,GARD:0022536,GARD:0000346,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015917,GARD:0022524,GARD:0000346,,Rare neurologic disease +GARD:0015917,GARD:0022536,GARD:0010905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015917,GARD:0022531,GARD:0010905,,Rare genetic disease +GARD:0015917,GARD:0022522,GARD:0010905,,Rare hematologic disease +GARD:0015917,GARD:0022535,GARD:0010905,,Rare neoplastic disease +GARD:0015917,GARD:0022510,GARD:0010905,,Rare skin disease +GARD:0015917,GARD:0022531,GARD:0000346,,Rare genetic disease +GARD:0015918,GARD:0022531,GARD:0009640,,Rare genetic disease +GARD:0015918,GARD:0022523,GARD:0009640,,Rare immune disease +GARD:0015919,GARD:0022513,GARD:0008696,,Rare developmental defect during embryogenesis +GARD:0015919,GARD:0022513,GARD:0008695,,Rare developmental defect during embryogenesis +GARD:0015919,GARD:0022511,GARD:0008696,,Rare bone disease +GARD:0015919,GARD:0022531,GARD:0008695,,Rare genetic disease +GARD:0015919,GARD:0022520,GARD:0008696,,Rare ophthalmic disorder +GARD:0015919,GARD:0022531,GARD:0008696,,Rare genetic disease +GARD:0015919,GARD:0022526,GARD:0008696,,Rare odontologic disease +GARD:0015919,GARD:0022520,GARD:0008695,,Rare ophthalmic disorder +GARD:0015919,GARD:0022526,GARD:0008695,,Rare odontologic disease +GARD:0015919,GARD:0022511,GARD:0008695,,Rare bone disease +GARD:0015920,GARD:0021079,GARD:0006760,,Rare systemic or rheumatological disease of childhood +GARD:0015920,GARD:0022513,GARD:0006760,,Rare developmental defect during embryogenesis +GARD:0015920,GARD:0022531,GARD:0006760,,Rare genetic disease +GARD:0015920,GARD:0022511,GARD:0006760,,Rare bone disease +GARD:0015920,GARD:0022525,GARD:0006760,,Rare systemic or rheumatologic disease +GARD:0015921,GARD:0022511,GARD:0010620,,Rare bone disease +GARD:0015921,GARD:0022513,GARD:0010620,,Rare developmental defect during embryogenesis +GARD:0015921,GARD:0022531,GARD:0010620,,Rare genetic disease +GARD:0015922,GARD:0022524,GARD:0009242,,Rare neurologic disease +GARD:0015922,GARD:0022531,GARD:0009242,,Rare genetic disease +GARD:0015923,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015923,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015923,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015924,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015924,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015924,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015925,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0015925,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015925,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0015926,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015926,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0015926,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0015927,GARD:0022524,GARD:0002599,,Rare neurologic disease +GARD:0015927,GARD:0022508,GARD:0002599,,Rare inborn errors of metabolism +GARD:0015927,GARD:0022513,GARD:0002599,,Rare developmental defect during embryogenesis +GARD:0015927,GARD:0022531,GARD:0002599,,Rare genetic disease +GARD:0015927,GARD:0022520,GARD:0002599,,Rare ophthalmic disorder +GARD:0015928,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0015928,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0015928,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0015928,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0015928,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0015928,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0015928,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0015928,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0015929,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0015929,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0015929,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0015929,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0015930,GARD:0022531,GARD:0001998,,Rare genetic disease +GARD:0015930,GARD:0022524,GARD:0001998,,Rare neurologic disease +GARD:0015931,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0015931,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0015931,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0015931,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0015931,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0015931,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0015931,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0015931,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0015932,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0015932,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0015932,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0015932,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0015932,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0015932,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0015932,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0015932,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0015933,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0015933,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0015933,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0015933,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0015934,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0015934,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015934,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0015934,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0015934,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0015934,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0015934,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0015934,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0015934,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0015935,GARD:0022510,GARD:0009146,,Rare skin disease +GARD:0015935,GARD:0022519,GARD:0009146,,Rare surgical cardiac disease +GARD:0015935,GARD:0022527,GARD:0009146,,Rare circulatory system disease +GARD:0015935,GARD:0022524,GARD:0009146,,Rare neurologic disease +GARD:0015935,GARD:0022515,GARD:0009146,,Rare cardiac disease +GARD:0015935,GARD:0022531,GARD:0009146,,Rare genetic disease +GARD:0015935,GARD:0022536,GARD:0009146,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015935,GARD:0022513,GARD:0009146,,Rare developmental defect during embryogenesis +GARD:0015936,GARD:0022513,GARD:0009146,,Rare developmental defect during embryogenesis +GARD:0015936,GARD:0022510,GARD:0009146,,Rare skin disease +GARD:0015936,GARD:0022515,GARD:0009146,,Rare cardiac disease +GARD:0015936,GARD:0022519,GARD:0009146,,Rare surgical cardiac disease +GARD:0015936,GARD:0022524,GARD:0009146,,Rare neurologic disease +GARD:0015936,GARD:0022527,GARD:0009146,,Rare circulatory system disease +GARD:0015936,GARD:0022531,GARD:0009146,,Rare genetic disease +GARD:0015936,GARD:0022536,GARD:0009146,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015937,GARD:0022531,GARD:0009146,,Rare genetic disease +GARD:0015937,GARD:0022513,GARD:0009146,,Rare developmental defect during embryogenesis +GARD:0015937,GARD:0022510,GARD:0009146,,Rare skin disease +GARD:0015937,GARD:0022527,GARD:0009146,,Rare circulatory system disease +GARD:0015937,GARD:0022519,GARD:0009146,,Rare surgical cardiac disease +GARD:0015937,GARD:0022536,GARD:0009146,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015937,GARD:0022515,GARD:0009146,,Rare cardiac disease +GARD:0015937,GARD:0022524,GARD:0009146,,Rare neurologic disease +GARD:0015938,GARD:0022524,GARD:0002599,,Rare neurologic disease +GARD:0015938,GARD:0022508,GARD:0002599,,Rare inborn errors of metabolism +GARD:0015938,GARD:0022520,GARD:0002599,,Rare ophthalmic disorder +GARD:0015938,GARD:0022513,GARD:0002599,,Rare developmental defect during embryogenesis +GARD:0015938,GARD:0022531,GARD:0002599,,Rare genetic disease +GARD:0015939,GARD:0022524,GARD:0002998,,Rare neurologic disease +GARD:0015939,GARD:0022531,GARD:0002998,,Rare genetic disease +GARD:0015939,GARD:0022535,GARD:0002998,,Rare neoplastic disease +GARD:0015939,GARD:0022510,GARD:0002998,,Rare skin disease +GARD:0015940,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015940,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015940,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015941,GARD:0022513,GARD:0005739,,Rare developmental defect during embryogenesis +GARD:0015941,GARD:0022520,GARD:0005739,,Rare ophthalmic disorder +GARD:0015941,GARD:0022511,GARD:0005739,,Rare bone disease +GARD:0015941,GARD:0022524,GARD:0005739,,Rare neurologic disease +GARD:0015941,GARD:0022510,GARD:0005739,,Rare skin disease +GARD:0015941,GARD:0022531,GARD:0005739,,Rare genetic disease +GARD:0015942,GARD:0022531,GARD:0008182,,Rare genetic disease +GARD:0015942,GARD:0022511,GARD:0008182,,Rare bone disease +GARD:0015942,GARD:0022513,GARD:0008182,,Rare developmental defect during embryogenesis +GARD:0015943,GARD:0022529,GARD:0002542,,Rare infertility +GARD:0015943,GARD:0022528,GARD:0002542,,Rare otorhinolaryngologic disease +GARD:0015943,GARD:0022521,GARD:0002542,,Rare endocrine disease +GARD:0015943,GARD:0022531,GARD:0002542,,Rare genetic disease +GARD:0015943,GARD:0022514,GARD:0002542,,Rare gynecologic or obstetric disease +GARD:0015943,GARD:0022532,GARD:0002542,,Rare urogenital disease +GARD:0015943,GARD:0022508,GARD:0002542,,Rare inborn errors of metabolism +GARD:0015943,GARD:0022513,GARD:0002542,,Rare developmental defect during embryogenesis +GARD:0015944,GARD:0022510,GARD:0009775,,Rare skin disease +GARD:0015944,GARD:0022531,GARD:0009775,,Rare genetic disease +GARD:0015944,GARD:0022508,GARD:0009775,,Rare inborn errors of metabolism +GARD:0015945,GARD:0022531,GARD:0012919,,Rare genetic disease +GARD:0015945,GARD:0022524,GARD:0012919,,Rare neurologic disease +GARD:0015946,GARD:0022524,GARD:0012821,,Rare neurologic disease +GARD:0015946,GARD:0022531,GARD:0012821,,Rare genetic disease +GARD:0015947,GARD:0022531,GARD:0009991,,Rare genetic disease +GARD:0015947,GARD:0022510,GARD:0009991,,Rare skin disease +GARD:0015947,GARD:0022524,GARD:0009991,,Rare neurologic disease +GARD:0015947,GARD:0022511,GARD:0009991,,Rare bone disease +GARD:0015947,GARD:0022508,GARD:0009991,,Rare inborn errors of metabolism +GARD:0015947,GARD:0022525,GARD:0009991,,Rare systemic or rheumatologic disease +GARD:0015947,GARD:0022513,GARD:0009991,,Rare developmental defect during embryogenesis +GARD:0015948,GARD:0022524,GARD:0000156,,Rare neurologic disease +GARD:0015948,GARD:0022508,GARD:0000156,,Rare inborn errors of metabolism +GARD:0015948,GARD:0022513,GARD:0000156,,Rare developmental defect during embryogenesis +GARD:0015948,GARD:0022531,GARD:0000156,,Rare genetic disease +GARD:0015948,GARD:0022520,GARD:0000156,,Rare ophthalmic disorder +GARD:0015949,GARD:0022515,GARD:0010955,,Rare cardiac disease +GARD:0015949,GARD:0022519,GARD:0010955,,Rare surgical cardiac disease +GARD:0015949,GARD:0022513,GARD:0010955,,Rare developmental defect during embryogenesis +GARD:0015949,GARD:0022535,GARD:0010955,,Rare neoplastic disease +GARD:0015949,GARD:0022520,GARD:0010955,,Rare ophthalmic disorder +GARD:0015949,GARD:0022529,GARD:0010955,,Rare infertility +GARD:0015949,GARD:0022511,GARD:0010955,,Rare bone disease +GARD:0015949,GARD:0022536,GARD:0010955,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015949,GARD:0022510,GARD:0010955,,Rare skin disease +GARD:0015949,GARD:0022531,GARD:0010955,,Rare genetic disease +GARD:0015949,GARD:0022521,GARD:0010955,,Rare endocrine disease +GARD:0015949,GARD:0022524,GARD:0010955,,Rare neurologic disease +GARD:0015949,GARD:0022527,GARD:0010955,,Rare circulatory system disease +GARD:0015949,GARD:0022512,GARD:0010955,,Rare renal disease +GARD:0015950,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0015950,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0015950,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0015951,GARD:0022520,GARD:0002877,,Rare ophthalmic disorder +GARD:0015951,GARD:0022524,GARD:0002877,,Rare neurologic disease +GARD:0015951,GARD:0022521,GARD:0002877,,Rare endocrine disease +GARD:0015951,GARD:0022531,GARD:0002877,,Rare genetic disease +GARD:0015952,GARD:0022531,GARD:0010985,,Rare genetic disease +GARD:0015952,GARD:0022515,GARD:0010985,,Rare cardiac disease +GARD:0015953,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0015953,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0015954,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0015954,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0015955,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0015955,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0015956,GARD:0022531,GARD:0010985,,Rare genetic disease +GARD:0015956,GARD:0022515,GARD:0010985,,Rare cardiac disease +GARD:0015957,GARD:0022507,GARD:0003436,,Rare maxillo-facial surgical disease +GARD:0015957,GARD:0022528,GARD:0003436,,Rare otorhinolaryngologic disease +GARD:0015957,GARD:0022512,GARD:0003436,,Rare renal disease +GARD:0015957,GARD:0022536,GARD:0003436,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015957,GARD:0022524,GARD:0003436,,Rare neurologic disease +GARD:0015957,GARD:0022531,GARD:0003436,,Rare genetic disease +GARD:0015957,GARD:0022513,GARD:0003436,,Rare developmental defect during embryogenesis +GARD:0015957,GARD:0022511,GARD:0003436,,Rare bone disease +GARD:0015957,GARD:0022534,GARD:0003436,,Rare abdominal surgical disease +GARD:0015957,GARD:0022520,GARD:0003436,,Rare ophthalmic disorder +GARD:0015958,GARD:0022508,GARD:0007337,,Rare inborn errors of metabolism +GARD:0015958,GARD:0022531,GARD:0007337,,Rare genetic disease +GARD:0015958,GARD:0022536,GARD:0007337,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015958,GARD:0022522,GARD:0007337,,Rare hematologic disease +GARD:0015959,GARD:0022510,GARD:0001996,,Rare skin disease +GARD:0015959,GARD:0022531,GARD:0001996,,Rare genetic disease +GARD:0015960,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0015960,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0015961,GARD:0022515,GARD:0001142,,Rare cardiac disease +GARD:0015961,GARD:0022520,GARD:0001142,,Rare ophthalmic disorder +GARD:0015961,GARD:0022531,GARD:0001142,,Rare genetic disease +GARD:0015961,GARD:0022508,GARD:0001142,,Rare inborn errors of metabolism +GARD:0015961,GARD:0022536,GARD:0001142,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015962,GARD:0022524,GARD:0010899,,Rare neurologic disease +GARD:0015962,GARD:0022511,GARD:0010899,,Rare bone disease +GARD:0015962,GARD:0022531,GARD:0010899,,Rare genetic disease +GARD:0015962,GARD:0022513,GARD:0010899,,Rare developmental defect during embryogenesis +GARD:0015963,GARD:0022524,GARD:0010899,,Rare neurologic disease +GARD:0015963,GARD:0022513,GARD:0010899,,Rare developmental defect during embryogenesis +GARD:0015963,GARD:0022511,GARD:0010899,,Rare bone disease +GARD:0015963,GARD:0022531,GARD:0010899,,Rare genetic disease +GARD:0015964,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0015965,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015965,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015965,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015966,GARD:0022518,GARD:0002249,,Rare surgical thoracic disease +GARD:0015966,GARD:0022527,GARD:0002249,,Rare circulatory system disease +GARD:0015966,GARD:0022525,GARD:0002249,,Rare systemic or rheumatologic disease +GARD:0015966,GARD:0022531,GARD:0002249,,Rare genetic disease +GARD:0015967,GARD:0022515,GARD:0004421,,Rare cardiac disease +GARD:0015967,GARD:0022531,GARD:0004421,,Rare genetic disease +GARD:0015968,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015968,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015968,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015969,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015969,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015969,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015970,GARD:0022508,GARD:0008295,,Rare inborn errors of metabolism +GARD:0015970,GARD:0022531,GARD:0008295,,Rare genetic disease +GARD:0015971,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015971,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015971,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015972,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015972,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015972,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015973,GARD:0022531,GARD:0006406,,Rare genetic disease +GARD:0015973,GARD:0022524,GARD:0006406,,Rare neurologic disease +GARD:0015974,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015974,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015974,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015975,GARD:0022534,GARD:0004835,,Rare abdominal surgical disease +GARD:0015975,GARD:0022511,GARD:0004835,,Rare bone disease +GARD:0015975,GARD:0022517,GARD:0004835,,Rare respiratory disease +GARD:0015975,GARD:0022513,GARD:0004835,,Rare developmental defect during embryogenesis +GARD:0015975,GARD:0022531,GARD:0004835,,Rare genetic disease +GARD:0015975,GARD:0022536,GARD:0004835,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015976,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015976,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015976,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015977,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0015977,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0015977,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0015978,GARD:0022506,GARD:0006626,,Rare hepatic disease +GARD:0015978,GARD:0022520,GARD:0006626,,Rare ophthalmic disorder +GARD:0015978,GARD:0022531,GARD:0006626,,Rare genetic disease +GARD:0015978,GARD:0022525,GARD:0006626,,Rare systemic or rheumatologic disease +GARD:0015978,GARD:0022524,GARD:0006626,,Rare neurologic disease +GARD:0015978,GARD:0022517,GARD:0006626,,Rare respiratory disease +GARD:0015978,GARD:0022510,GARD:0006626,,Rare skin disease +GARD:0015978,GARD:0022513,GARD:0006626,,Rare developmental defect during embryogenesis +GARD:0015978,GARD:0022527,GARD:0006626,,Rare circulatory system disease +GARD:0015979,GARD:0022523,GARD:0011983,,Rare immune disease +GARD:0015979,GARD:0022531,GARD:0011983,,Rare genetic disease +GARD:0015980,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0015981,GARD:0022510,GARD:0001077,,Rare skin disease +GARD:0015981,GARD:0022523,GARD:0001077,,Rare immune disease +GARD:0015981,GARD:0022531,GARD:0001077,,Rare genetic disease +GARD:0015982,GARD:0022519,GARD:0008486,,Rare surgical cardiac disease +GARD:0015982,GARD:0022510,GARD:0008486,,Rare skin disease +GARD:0015982,GARD:0022524,GARD:0008486,,Rare neurologic disease +GARD:0015982,GARD:0022508,GARD:0008486,,Rare inborn errors of metabolism +GARD:0015982,GARD:0022512,GARD:0008486,,Rare renal disease +GARD:0015982,GARD:0022531,GARD:0008486,,Rare genetic disease +GARD:0015982,GARD:0022525,GARD:0008486,,Rare systemic or rheumatologic disease +GARD:0015982,GARD:0022513,GARD:0008486,,Rare developmental defect during embryogenesis +GARD:0015983,GARD:0022531,GARD:0012724,,Rare genetic disease +GARD:0015983,GARD:0022513,GARD:0012724,,Rare developmental defect during embryogenesis +GARD:0015983,GARD:0022524,GARD:0012724,,Rare neurologic disease +GARD:0015984,GARD:0022513,GARD:0005456,,Rare developmental defect during embryogenesis +GARD:0015984,GARD:0022531,GARD:0005456,,Rare genetic disease +GARD:0015984,GARD:0022524,GARD:0005456,,Rare neurologic disease +GARD:0015985,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0015985,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0015985,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0015985,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0015985,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0015985,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015985,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0015985,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0015985,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0015986,GARD:0022509,GARD:0009546,,Rare infectious disease +GARD:0015987,GARD:0022531,GARD:0008686,,Rare genetic disease +GARD:0015987,GARD:0022535,GARD:0008686,,Rare neoplastic disease +GARD:0015987,GARD:0022522,GARD:0008686,,Rare hematologic disease +GARD:0015987,GARD:0022523,GARD:0008686,,Rare immune disease +GARD:0015987,GARD:0022536,GARD:0008686,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015988,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0015988,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0015988,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0015989,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015989,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0015989,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0015990,GARD:0022535,GARD:0006140,,Rare neoplastic disease +GARD:0015990,GARD:0022523,GARD:0006140,,Rare immune disease +GARD:0015990,GARD:0022531,GARD:0006140,,Rare genetic disease +GARD:0015991,GARD:0022531,GARD:0009118,,Rare genetic disease +GARD:0015991,GARD:0022512,GARD:0009118,,Rare renal disease +GARD:0015991,GARD:0022536,GARD:0009118,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015992,GARD:0022506,GARD:0009304,,Rare hepatic disease +GARD:0015992,GARD:0022535,GARD:0009304,,Rare neoplastic disease +GARD:0015992,GARD:0022536,GARD:0009304,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015993,GARD:0022511,GARD:0003049,,Rare bone disease +GARD:0015993,GARD:0022513,GARD:0003049,,Rare developmental defect during embryogenesis +GARD:0015993,GARD:0022517,GARD:0003049,,Rare respiratory disease +GARD:0015993,GARD:0022536,GARD:0003049,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015993,GARD:0022512,GARD:0003049,,Rare renal disease +GARD:0015993,GARD:0022531,GARD:0003049,,Rare genetic disease +GARD:0015994,GARD:0022531,GARD:0002000,,Rare genetic disease +GARD:0015994,GARD:0022522,GARD:0002000,,Rare hematologic disease +GARD:0015995,GARD:0022531,GARD:0006635,,Rare genetic disease +GARD:0015995,GARD:0022524,GARD:0006635,,Rare neurologic disease +GARD:0015995,GARD:0022508,GARD:0006635,,Rare inborn errors of metabolism +GARD:0015996,GARD:0022512,GARD:0003049,,Rare renal disease +GARD:0015996,GARD:0022534,GARD:0004835,,Rare abdominal surgical disease +GARD:0015996,GARD:0022511,GARD:0004835,,Rare bone disease +GARD:0015996,GARD:0022517,GARD:0004835,,Rare respiratory disease +GARD:0015996,GARD:0022513,GARD:0003049,,Rare developmental defect during embryogenesis +GARD:0015996,GARD:0022531,GARD:0003049,,Rare genetic disease +GARD:0015996,GARD:0022513,GARD:0004835,,Rare developmental defect during embryogenesis +GARD:0015996,GARD:0022511,GARD:0003049,,Rare bone disease +GARD:0015996,GARD:0022531,GARD:0004835,,Rare genetic disease +GARD:0015996,GARD:0022536,GARD:0004835,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015996,GARD:0022517,GARD:0003049,,Rare respiratory disease +GARD:0015996,GARD:0022536,GARD:0003049,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0015997,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0015997,GARD:0022524,GARD:0017637,,Rare neurologic disease +GARD:0015997,GARD:0022517,GARD:0017637,,Rare respiratory disease +GARD:0015997,GARD:0022513,GARD:0017637,,Rare developmental defect during embryogenesis +GARD:0015997,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0015997,GARD:0022511,GARD:0017637,,Rare bone disease +GARD:0015997,GARD:0022520,GARD:0017637,,Rare ophthalmic disorder +GARD:0015997,GARD:0022531,GARD:0017637,,Rare genetic disease +GARD:0015997,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0015997,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0015998,GARD:0022524,GARD:0005534,,Rare neurologic disease +GARD:0015998,GARD:0022520,GARD:0005534,,Rare ophthalmic disorder +GARD:0015998,GARD:0022513,GARD:0005534,,Rare developmental defect during embryogenesis +GARD:0015998,GARD:0022531,GARD:0005534,,Rare genetic disease +GARD:0015999,GARD:0022520,GARD:0004412,,Rare ophthalmic disorder +GARD:0015999,GARD:0022528,GARD:0004412,,Rare otorhinolaryngologic disease +GARD:0015999,GARD:0022531,GARD:0004412,,Rare genetic disease +GARD:0015999,GARD:0022511,GARD:0004412,,Rare bone disease +GARD:0015999,GARD:0022507,GARD:0004412,,Rare maxillo-facial surgical disease +GARD:0015999,GARD:0022513,GARD:0004412,,Rare developmental defect during embryogenesis +GARD:0015999,GARD:0022524,GARD:0004412,,Rare neurologic disease +GARD:0016000,GARD:0022535,GARD:0004768,,Rare neoplastic disease +GARD:0016000,GARD:0022524,GARD:0004768,,Rare neurologic disease +GARD:0016000,GARD:0022531,GARD:0004768,,Rare genetic disease +GARD:0016000,GARD:0022510,GARD:0004768,,Rare skin disease +GARD:0016000,GARD:0022536,GARD:0004768,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016000,GARD:0022513,GARD:0004768,,Rare developmental defect during embryogenesis +GARD:0016001,GARD:0022510,GARD:0009775,,Rare skin disease +GARD:0016001,GARD:0022508,GARD:0009775,,Rare inborn errors of metabolism +GARD:0016001,GARD:0022531,GARD:0009775,,Rare genetic disease +GARD:0016002,GARD:0022508,GARD:0009775,,Rare inborn errors of metabolism +GARD:0016002,GARD:0022510,GARD:0009775,,Rare skin disease +GARD:0016002,GARD:0022531,GARD:0009775,,Rare genetic disease +GARD:0016003,GARD:0022511,GARD:0009798,,Rare bone disease +GARD:0016003,GARD:0022531,GARD:0009798,,Rare genetic disease +GARD:0016003,GARD:0022507,GARD:0009798,,Rare maxillo-facial surgical disease +GARD:0016003,GARD:0022528,GARD:0009798,,Rare otorhinolaryngologic disease +GARD:0016003,GARD:0022513,GARD:0009798,,Rare developmental defect during embryogenesis +GARD:0016004,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016004,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016004,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016005,GARD:0022513,GARD:0010753,,Rare developmental defect during embryogenesis +GARD:0016005,GARD:0022531,GARD:0010753,,Rare genetic disease +GARD:0016005,GARD:0022510,GARD:0010753,,Rare skin disease +GARD:0016006,GARD:0022513,GARD:0010753,,Rare developmental defect during embryogenesis +GARD:0016006,GARD:0022531,GARD:0010753,,Rare genetic disease +GARD:0016006,GARD:0022510,GARD:0010753,,Rare skin disease +GARD:0016007,GARD:0022531,GARD:0012823,,Rare genetic disease +GARD:0016007,GARD:0022524,GARD:0012822,,Rare neurologic disease +GARD:0016007,GARD:0022531,GARD:0012822,,Rare genetic disease +GARD:0016007,GARD:0022531,GARD:0007171,,Rare genetic disease +GARD:0016007,GARD:0022524,GARD:0012821,,Rare neurologic disease +GARD:0016007,GARD:0022531,GARD:0012821,,Rare genetic disease +GARD:0016007,GARD:0022524,GARD:0007171,,Rare neurologic disease +GARD:0016007,GARD:0022524,GARD:0012823,,Rare neurologic disease +GARD:0016008,GARD:0022531,GARD:0010430,,Rare genetic disease +GARD:0016008,GARD:0022524,GARD:0010430,,Rare neurologic disease +GARD:0016009,GARD:0022531,GARD:0006011,,Rare genetic disease +GARD:0016009,GARD:0022524,GARD:0006011,,Rare neurologic disease +GARD:0016009,GARD:0022513,GARD:0006011,,Rare developmental defect during embryogenesis +GARD:0016010,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0016010,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0016011,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016011,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016011,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016012,GARD:0022510,GARD:0008501,,Rare skin disease +GARD:0016012,GARD:0022531,GARD:0008501,,Rare genetic disease +GARD:0016012,GARD:0022535,GARD:0008501,,Rare neoplastic disease +GARD:0016013,GARD:0022524,GARD:0008562,,Rare neurologic disease +GARD:0016013,GARD:0022513,GARD:0008562,,Rare developmental defect during embryogenesis +GARD:0016013,GARD:0022511,GARD:0008562,,Rare bone disease +GARD:0016013,GARD:0022531,GARD:0008562,,Rare genetic disease +GARD:0016014,GARD:0022526,GARD:0005595,,Rare odontologic disease +GARD:0016014,GARD:0022531,GARD:0005595,,Rare genetic disease +GARD:0016014,GARD:0022515,GARD:0005595,,Rare cardiac disease +GARD:0016014,GARD:0022510,GARD:0005595,,Rare skin disease +GARD:0016014,GARD:0022536,GARD:0005595,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016014,GARD:0022513,GARD:0005595,,Rare developmental defect during embryogenesis +GARD:0016015,GARD:0022508,GARD:0008295,,Rare inborn errors of metabolism +GARD:0016015,GARD:0022531,GARD:0008295,,Rare genetic disease +GARD:0016016,GARD:0022529,GARD:0010906,,Rare infertility +GARD:0016016,GARD:0022531,GARD:0010906,,Rare genetic disease +GARD:0016016,GARD:0022521,GARD:0010906,,Rare endocrine disease +GARD:0016017,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016017,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016018,GARD:0022508,GARD:0008295,,Rare inborn errors of metabolism +GARD:0016018,GARD:0022531,GARD:0008295,,Rare genetic disease +GARD:0016019,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0016019,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0016020,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0016020,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0016021,GARD:0022525,GARD:0000575,,Rare systemic or rheumatologic disease +GARD:0016021,GARD:0022531,GARD:0000575,,Rare genetic disease +GARD:0016021,GARD:0022523,GARD:0000575,,Rare immune disease +GARD:0016021,GARD:0021079,GARD:0000575,,Rare systemic or rheumatological disease of childhood +GARD:0016021,GARD:0022524,GARD:0000575,,Rare neurologic disease +GARD:0016022,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0016022,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0016023,GARD:0022524,GARD:0006124,,Rare neurologic disease +GARD:0016023,GARD:0022511,GARD:0006124,,Rare bone disease +GARD:0016023,GARD:0022531,GARD:0006124,,Rare genetic disease +GARD:0016023,GARD:0022513,GARD:0006124,,Rare developmental defect during embryogenesis +GARD:0016024,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016024,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016025,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0016025,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0016025,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0016026,GARD:0022531,GARD:0003884,,Rare genetic disease +GARD:0016026,GARD:0022524,GARD:0003884,,Rare neurologic disease +GARD:0016027,GARD:0022531,GARD:0009170,,Rare genetic disease +GARD:0016027,GARD:0022510,GARD:0009170,,Rare skin disease +GARD:0016028,GARD:0022531,GARD:0008349,,Rare genetic disease +GARD:0016028,GARD:0022526,GARD:0008349,,Rare odontologic disease +GARD:0016029,GARD:0022531,GARD:0005597,,Rare genetic disease +GARD:0016029,GARD:0022510,GARD:0005597,,Rare skin disease +GARD:0016030,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0016030,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0016030,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0016030,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0016030,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0016030,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0016030,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016030,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0016030,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0016031,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0016031,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0016031,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016032,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016032,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016032,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016033,GARD:0022536,GARD:0004203,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016033,GARD:0022513,GARD:0004203,,Rare developmental defect during embryogenesis +GARD:0016033,GARD:0022534,GARD:0004203,,Rare abdominal surgical disease +GARD:0016033,GARD:0022531,GARD:0004203,,Rare genetic disease +GARD:0016034,GARD:0022529,GARD:0010824,,Rare infertility +GARD:0016034,GARD:0022531,GARD:0010824,,Rare genetic disease +GARD:0016034,GARD:0022521,GARD:0010824,,Rare endocrine disease +GARD:0016035,GARD:0022524,GARD:0012718,,Rare neurologic disease +GARD:0016035,GARD:0022531,GARD:0012718,,Rare genetic disease +GARD:0016036,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0016036,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0016037,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016037,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0016037,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0016037,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0016037,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0016037,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0016037,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0016037,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0016037,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0016037,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0016037,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0016038,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0016038,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0016038,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0016038,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0016038,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0016038,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0016038,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016038,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0016038,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0016038,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0016038,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0016039,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0016039,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0016039,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0016039,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0016039,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0016039,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0016039,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0016039,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0016039,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016039,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0016039,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0016040,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0016040,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0016040,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0016040,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0016040,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0016040,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0016040,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016040,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0016040,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0016040,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0016040,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0016041,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0016041,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016041,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0016041,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0016041,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0016041,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0016041,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0016041,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0016041,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0016041,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0016041,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0016042,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0016042,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0016042,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0016042,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0016042,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0016042,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0016042,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0016042,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0016042,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0016042,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0016042,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016043,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016043,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0016043,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0016043,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0016043,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0016043,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0016043,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0016043,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0016043,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0016043,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0016043,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0016044,GARD:0022531,GARD:0009489,,Rare genetic disease +GARD:0016044,GARD:0022514,GARD:0009489,,Rare gynecologic or obstetric disease +GARD:0016045,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0016045,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016045,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0016046,GARD:0022523,GARD:0011983,,Rare immune disease +GARD:0016046,GARD:0022531,GARD:0011983,,Rare genetic disease +GARD:0016047,GARD:0022524,GARD:0003318,,Rare neurologic disease +GARD:0016047,GARD:0022513,GARD:0003318,,Rare developmental defect during embryogenesis +GARD:0016047,GARD:0022510,GARD:0003318,,Rare skin disease +GARD:0016047,GARD:0022523,GARD:0003318,,Rare immune disease +GARD:0016047,GARD:0022527,GARD:0003318,,Rare circulatory system disease +GARD:0016047,GARD:0022531,GARD:0003318,,Rare genetic disease +GARD:0016048,GARD:0022536,GARD:0010221,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016048,GARD:0022513,GARD:0010221,,Rare developmental defect during embryogenesis +GARD:0016048,GARD:0022512,GARD:0010221,,Rare renal disease +GARD:0016048,GARD:0022521,GARD:0010221,,Rare endocrine disease +GARD:0016048,GARD:0022531,GARD:0010221,,Rare genetic disease +GARD:0016049,GARD:0022520,GARD:0005739,,Rare ophthalmic disorder +GARD:0016049,GARD:0022524,GARD:0005739,,Rare neurologic disease +GARD:0016049,GARD:0022513,GARD:0005739,,Rare developmental defect during embryogenesis +GARD:0016049,GARD:0022510,GARD:0005739,,Rare skin disease +GARD:0016049,GARD:0022531,GARD:0005739,,Rare genetic disease +GARD:0016049,GARD:0022511,GARD:0005739,,Rare bone disease +GARD:0016050,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0016050,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0016050,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0016050,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0016051,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016051,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0016051,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0016052,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0016052,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0016052,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0016053,GARD:0022513,GARD:0015023,,Rare developmental defect during embryogenesis +GARD:0016053,GARD:0022520,GARD:0015023,,Rare ophthalmic disorder +GARD:0016053,GARD:0022531,GARD:0015023,,Rare genetic disease +GARD:0016053,GARD:0022524,GARD:0015023,,Rare neurologic disease +GARD:0016054,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0016054,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0016054,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0016054,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0016055,GARD:0022531,GARD:0012551,,Rare genetic disease +GARD:0016055,GARD:0022524,GARD:0012551,,Rare neurologic disease +GARD:0016056,GARD:0022531,GARD:0010983,,Rare genetic disease +GARD:0016056,GARD:0022510,GARD:0010983,,Rare skin disease +GARD:0016057,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0016057,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0016057,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0016057,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0016058,GARD:0022531,GARD:0010704,,Rare genetic disease +GARD:0016058,GARD:0022513,GARD:0010704,,Rare developmental defect during embryogenesis +GARD:0016058,GARD:0022524,GARD:0010704,,Rare neurologic disease +GARD:0016059,GARD:0022531,GARD:0012819,,Rare genetic disease +GARD:0016059,GARD:0022510,GARD:0012819,,Rare skin disease +GARD:0016060,GARD:0022531,GARD:0008295,,Rare genetic disease +GARD:0016060,GARD:0022508,GARD:0008295,,Rare inborn errors of metabolism +GARD:0016061,GARD:0022531,GARD:0009535,,Rare genetic disease +GARD:0016061,GARD:0022523,GARD:0009535,,Rare immune disease +GARD:0016061,GARD:0022510,GARD:0009535,,Rare skin disease +GARD:0016061,GARD:0022525,GARD:0009535,,Rare systemic or rheumatologic disease +GARD:0016061,GARD:0021079,GARD:0009535,,Rare systemic or rheumatological disease of childhood +GARD:0016062,GARD:0022528,GARD:0002542,,Rare otorhinolaryngologic disease +GARD:0016062,GARD:0022532,GARD:0002542,,Rare urogenital disease +GARD:0016062,GARD:0022508,GARD:0002542,,Rare inborn errors of metabolism +GARD:0016062,GARD:0022521,GARD:0002542,,Rare endocrine disease +GARD:0016062,GARD:0022529,GARD:0002542,,Rare infertility +GARD:0016062,GARD:0022531,GARD:0002542,,Rare genetic disease +GARD:0016062,GARD:0022513,GARD:0002542,,Rare developmental defect during embryogenesis +GARD:0016062,GARD:0022514,GARD:0002542,,Rare gynecologic or obstetric disease +GARD:0016063,GARD:0022531,GARD:0007887,,Rare genetic disease +GARD:0016063,GARD:0022524,GARD:0007887,,Rare neurologic disease +GARD:0016064,GARD:0022520,GARD:0010909,,Rare ophthalmic disorder +GARD:0016064,GARD:0022531,GARD:0010909,,Rare genetic disease +GARD:0016065,GARD:0022520,GARD:0010909,,Rare ophthalmic disorder +GARD:0016065,GARD:0022531,GARD:0010909,,Rare genetic disease +GARD:0016066,GARD:0022524,GARD:0012821,,Rare neurologic disease +GARD:0016066,GARD:0022524,GARD:0012822,,Rare neurologic disease +GARD:0016066,GARD:0022531,GARD:0012821,,Rare genetic disease +GARD:0016066,GARD:0022531,GARD:0012822,,Rare genetic disease +GARD:0016067,GARD:0022527,GARD:0002249,,Rare circulatory system disease +GARD:0016067,GARD:0022531,GARD:0002249,,Rare genetic disease +GARD:0016067,GARD:0022525,GARD:0002249,,Rare systemic or rheumatologic disease +GARD:0016067,GARD:0022518,GARD:0002249,,Rare surgical thoracic disease +GARD:0016068,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0016069,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016069,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016070,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016070,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0016070,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0016071,GARD:0022526,GARD:0016931,,Rare odontologic disease +GARD:0016071,GARD:0022531,GARD:0000645,,Rare genetic disease +GARD:0016071,GARD:0022526,GARD:0000645,,Rare odontologic disease +GARD:0016071,GARD:0022531,GARD:0016931,,Rare genetic disease +GARD:0016072,GARD:0022531,GARD:0008695,,Rare genetic disease +GARD:0016072,GARD:0022520,GARD:0008695,,Rare ophthalmic disorder +GARD:0016072,GARD:0022511,GARD:0008695,,Rare bone disease +GARD:0016072,GARD:0022513,GARD:0008695,,Rare developmental defect during embryogenesis +GARD:0016072,GARD:0022526,GARD:0008695,,Rare odontologic disease +GARD:0016073,GARD:0022515,GARD:0003284,,Rare cardiac disease +GARD:0016073,GARD:0022531,GARD:0003284,,Rare genetic disease +GARD:0016074,GARD:0022515,GARD:0003284,,Rare cardiac disease +GARD:0016074,GARD:0022531,GARD:0003284,,Rare genetic disease +GARD:0016075,GARD:0022524,GARD:0019563,,Rare neurologic disease +GARD:0016075,GARD:0022531,GARD:0019563,,Rare genetic disease +GARD:0016075,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016075,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016075,GARD:0022513,GARD:0000786,,Rare developmental defect during embryogenesis +GARD:0016075,GARD:0022531,GARD:0000786,,Rare genetic disease +GARD:0016075,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016076,GARD:0022531,GARD:0000645,,Rare genetic disease +GARD:0016076,GARD:0022526,GARD:0000645,,Rare odontologic disease +GARD:0016077,GARD:0022513,GARD:0001425,,Rare developmental defect during embryogenesis +GARD:0016077,GARD:0022531,GARD:0001425,,Rare genetic disease +GARD:0016077,GARD:0022511,GARD:0001425,,Rare bone disease +GARD:0016077,GARD:0022520,GARD:0001425,,Rare ophthalmic disorder +GARD:0016078,GARD:0022523,GARD:0000122,,Rare immune disease +GARD:0016078,GARD:0022511,GARD:0000122,,Rare bone disease +GARD:0016078,GARD:0021079,GARD:0000122,,Rare systemic or rheumatological disease of childhood +GARD:0016078,GARD:0022531,GARD:0000122,,Rare genetic disease +GARD:0016078,GARD:0022525,GARD:0000122,,Rare systemic or rheumatologic disease +GARD:0016078,GARD:0022513,GARD:0000122,,Rare developmental defect during embryogenesis +GARD:0016079,GARD:0022531,GARD:0003049,,Rare genetic disease +GARD:0016079,GARD:0022513,GARD:0003049,,Rare developmental defect during embryogenesis +GARD:0016079,GARD:0022536,GARD:0003049,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016079,GARD:0022511,GARD:0003049,,Rare bone disease +GARD:0016079,GARD:0022512,GARD:0003049,,Rare renal disease +GARD:0016079,GARD:0022517,GARD:0003049,,Rare respiratory disease +GARD:0016080,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0016080,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0016080,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0016080,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0016081,GARD:0022512,GARD:0000322,,Rare renal disease +GARD:0016081,GARD:0022536,GARD:0000322,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016081,GARD:0022520,GARD:0000322,,Rare ophthalmic disorder +GARD:0016081,GARD:0022531,GARD:0000322,,Rare genetic disease +GARD:0016082,GARD:0022524,GARD:0003605,,Rare neurologic disease +GARD:0016082,GARD:0022513,GARD:0003605,,Rare developmental defect during embryogenesis +GARD:0016082,GARD:0022531,GARD:0003605,,Rare genetic disease +GARD:0016083,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0016083,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0016083,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0016083,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0016084,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0016084,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0016084,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0016084,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0016085,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0016085,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0016085,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0016085,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0016086,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0016086,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0016086,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0016086,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0016087,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0016087,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0016087,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0016087,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0016088,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0016088,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0016088,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0016088,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0016089,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0016089,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0016089,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0016089,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0016090,GARD:0022531,GARD:0003697,,Rare genetic disease +GARD:0016090,GARD:0022521,GARD:0003697,,Rare endocrine disease +GARD:0016091,GARD:0022524,GARD:0015023,,Rare neurologic disease +GARD:0016091,GARD:0022513,GARD:0015023,,Rare developmental defect during embryogenesis +GARD:0016091,GARD:0022531,GARD:0015023,,Rare genetic disease +GARD:0016091,GARD:0022520,GARD:0015023,,Rare ophthalmic disorder +GARD:0016092,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016092,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016093,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0016093,GARD:0022531,GARD:0016581,,Rare genetic disease +GARD:0016093,GARD:0022524,GARD:0016581,,Rare neurologic disease +GARD:0016093,GARD:0022524,GARD:0007887,,Rare neurologic disease +GARD:0016093,GARD:0022508,GARD:0016581,,Rare inborn errors of metabolism +GARD:0016093,GARD:0022531,GARD:0007887,,Rare genetic disease +GARD:0016093,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0016094,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016094,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016094,GARD:0022524,GARD:0009912,,Rare neurologic disease +GARD:0016094,GARD:0022531,GARD:0009912,,Rare genetic disease +GARD:0016095,GARD:0022522,GARD:0010905,,Rare hematologic disease +GARD:0016095,GARD:0022510,GARD:0010905,,Rare skin disease +GARD:0016095,GARD:0022513,GARD:0010905,,Rare developmental defect during embryogenesis +GARD:0016095,GARD:0022524,GARD:0010905,,Rare neurologic disease +GARD:0016095,GARD:0022520,GARD:0010905,,Rare ophthalmic disorder +GARD:0016095,GARD:0022513,GARD:0000346,,Rare developmental defect during embryogenesis +GARD:0016095,GARD:0022523,GARD:0000346,,Rare immune disease +GARD:0016095,GARD:0022536,GARD:0010905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016095,GARD:0022535,GARD:0010905,,Rare neoplastic disease +GARD:0016095,GARD:0022531,GARD:0010905,,Rare genetic disease +GARD:0016095,GARD:0022523,GARD:0010905,,Rare immune disease +GARD:0016095,GARD:0022524,GARD:0000346,,Rare neurologic disease +GARD:0016095,GARD:0022531,GARD:0000346,,Rare genetic disease +GARD:0016095,GARD:0022522,GARD:0000346,,Rare hematologic disease +GARD:0016095,GARD:0022536,GARD:0000346,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016096,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016096,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016097,GARD:0022536,GARD:0008609,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016097,GARD:0022517,GARD:0008609,,Rare respiratory disease +GARD:0016098,GARD:0022517,GARD:0008609,,Rare respiratory disease +GARD:0016098,GARD:0022536,GARD:0008609,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016099,GARD:0022520,GARD:0003995,,Rare ophthalmic disorder +GARD:0016099,GARD:0022531,GARD:0003995,,Rare genetic disease +GARD:0016100,GARD:0022531,GARD:0012109,,Rare genetic disease +GARD:0016100,GARD:0022510,GARD:0012109,,Rare skin disease +GARD:0016100,GARD:0022529,GARD:0012109,,Rare infertility +GARD:0016100,GARD:0022524,GARD:0012109,,Rare neurologic disease +GARD:0016100,GARD:0022520,GARD:0012109,,Rare ophthalmic disorder +GARD:0016100,GARD:0022513,GARD:0012109,,Rare developmental defect during embryogenesis +GARD:0016101,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016101,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016101,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016102,GARD:0022510,GARD:0012109,,Rare skin disease +GARD:0016102,GARD:0022529,GARD:0012109,,Rare infertility +GARD:0016102,GARD:0022531,GARD:0012109,,Rare genetic disease +GARD:0016102,GARD:0022520,GARD:0012109,,Rare ophthalmic disorder +GARD:0016102,GARD:0022513,GARD:0012109,,Rare developmental defect during embryogenesis +GARD:0016102,GARD:0022524,GARD:0012109,,Rare neurologic disease +GARD:0016103,GARD:0022531,GARD:0007139,,Rare genetic disease +GARD:0016103,GARD:0022524,GARD:0007139,,Rare neurologic disease +GARD:0016104,GARD:0022531,GARD:0001030,,Rare genetic disease +GARD:0016104,GARD:0022515,GARD:0001030,,Rare cardiac disease +GARD:0016105,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0016105,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0016105,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0016105,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0016106,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016106,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016107,GARD:0022524,GARD:0006406,,Rare neurologic disease +GARD:0016107,GARD:0022531,GARD:0006406,,Rare genetic disease +GARD:0016108,GARD:0022524,GARD:0002169,,Rare neurologic disease +GARD:0016108,GARD:0022531,GARD:0002169,,Rare genetic disease +GARD:0016109,GARD:0022513,GARD:0005068,,Rare developmental defect during embryogenesis +GARD:0016109,GARD:0022515,GARD:0005068,,Rare cardiac disease +GARD:0016109,GARD:0022532,GARD:0005068,,Rare urogenital disease +GARD:0016109,GARD:0022536,GARD:0017211,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016109,GARD:0022514,GARD:0017211,,Rare gynecologic or obstetric disease +GARD:0016109,GARD:0022513,GARD:0017211,,Rare developmental defect during embryogenesis +GARD:0016109,GARD:0022536,GARD:0005068,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016109,GARD:0022529,GARD:0017211,,Rare infertility +GARD:0016109,GARD:0022514,GARD:0005068,,Rare gynecologic or obstetric disease +GARD:0016109,GARD:0022531,GARD:0005068,,Rare genetic disease +GARD:0016109,GARD:0022521,GARD:0017211,,Rare endocrine disease +GARD:0016109,GARD:0022521,GARD:0005068,,Rare endocrine disease +GARD:0016109,GARD:0022532,GARD:0017211,,Rare urogenital disease +GARD:0016109,GARD:0022531,GARD:0017211,,Rare genetic disease +GARD:0016110,GARD:0022531,GARD:0003644,,Rare genetic disease +GARD:0016110,GARD:0022513,GARD:0003644,,Rare developmental defect during embryogenesis +GARD:0016110,GARD:0022520,GARD:0003644,,Rare ophthalmic disorder +GARD:0016111,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0016111,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016111,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0016111,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0016111,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0016111,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0016111,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0016111,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0016111,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0016112,GARD:0022531,GARD:0002257,,Rare genetic disease +GARD:0016112,GARD:0022524,GARD:0002257,,Rare neurologic disease +GARD:0016113,GARD:0022524,GARD:0017273,,Rare neurologic disease +GARD:0016113,GARD:0022524,GARD:0007392,,Rare neurologic disease +GARD:0016113,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0016113,GARD:0022531,GARD:0007392,,Rare genetic disease +GARD:0016113,GARD:0022531,GARD:0017273,,Rare genetic disease +GARD:0016114,GARD:0022531,GARD:0001077,,Rare genetic disease +GARD:0016114,GARD:0022510,GARD:0001077,,Rare skin disease +GARD:0016114,GARD:0022523,GARD:0001077,,Rare immune disease +GARD:0016115,GARD:0022531,GARD:0000385,,Rare genetic disease +GARD:0016115,GARD:0022526,GARD:0000385,,Rare odontologic disease +GARD:0016115,GARD:0022513,GARD:0000385,,Rare developmental defect during embryogenesis +GARD:0016115,GARD:0022524,GARD:0000385,,Rare neurologic disease +GARD:0016116,GARD:0022531,GARD:0002257,,Rare genetic disease +GARD:0016116,GARD:0022524,GARD:0002257,,Rare neurologic disease +GARD:0016117,GARD:0022528,GARD:0010041,,Rare otorhinolaryngologic disease +GARD:0016117,GARD:0022531,GARD:0010041,,Rare genetic disease +GARD:0016117,GARD:0022513,GARD:0010041,,Rare developmental defect during embryogenesis +GARD:0016118,GARD:0022524,GARD:0001613,,Rare neurologic disease +GARD:0016118,GARD:0022520,GARD:0001613,,Rare ophthalmic disorder +GARD:0016118,GARD:0022531,GARD:0001613,,Rare genetic disease +GARD:0016119,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016119,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016119,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016120,GARD:0022531,GARD:0004769,,Rare genetic disease +GARD:0016120,GARD:0022524,GARD:0004769,,Rare neurologic disease +GARD:0016121,GARD:0022531,GARD:0000873,,Rare genetic disease +GARD:0016121,GARD:0022524,GARD:0000873,,Rare neurologic disease +GARD:0016122,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0016122,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0016122,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0016123,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0016123,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0016123,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0016123,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0016124,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0016124,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0016124,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0016124,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0016125,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0016125,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0016126,GARD:0022513,GARD:0008696,,Rare developmental defect during embryogenesis +GARD:0016126,GARD:0022526,GARD:0008696,,Rare odontologic disease +GARD:0016126,GARD:0022520,GARD:0008696,,Rare ophthalmic disorder +GARD:0016126,GARD:0022531,GARD:0008696,,Rare genetic disease +GARD:0016126,GARD:0022511,GARD:0008696,,Rare bone disease +GARD:0016127,GARD:0022513,GARD:0001159,,Rare developmental defect during embryogenesis +GARD:0016127,GARD:0022520,GARD:0001159,,Rare ophthalmic disorder +GARD:0016127,GARD:0022531,GARD:0001159,,Rare genetic disease +GARD:0016128,GARD:0022531,GARD:0003697,,Rare genetic disease +GARD:0016128,GARD:0022521,GARD:0003697,,Rare endocrine disease +GARD:0016129,GARD:0022531,GARD:0015015,,Rare genetic disease +GARD:0016129,GARD:0022520,GARD:0015015,,Rare ophthalmic disorder +GARD:0016130,GARD:0022531,GARD:0006011,,Rare genetic disease +GARD:0016130,GARD:0022513,GARD:0006011,,Rare developmental defect during embryogenesis +GARD:0016130,GARD:0022524,GARD:0006011,,Rare neurologic disease +GARD:0016131,GARD:0022523,GARD:0006649,,Rare immune disease +GARD:0016131,GARD:0022531,GARD:0006649,,Rare genetic disease +GARD:0016131,GARD:0022524,GARD:0006649,,Rare neurologic disease +GARD:0016131,GARD:0022509,GARD:0006649,,Rare infectious disease +GARD:0016132,GARD:0022531,GARD:0008488,,Rare genetic disease +GARD:0016132,GARD:0022535,GARD:0008488,,Rare neoplastic disease +GARD:0016132,GARD:0022521,GARD:0008488,,Rare endocrine disease +GARD:0016133,GARD:0022535,GARD:0008488,,Rare neoplastic disease +GARD:0016133,GARD:0022531,GARD:0008488,,Rare genetic disease +GARD:0016133,GARD:0022521,GARD:0008488,,Rare endocrine disease +GARD:0016134,GARD:0022520,GARD:0002599,,Rare ophthalmic disorder +GARD:0016134,GARD:0022524,GARD:0002599,,Rare neurologic disease +GARD:0016134,GARD:0022508,GARD:0002599,,Rare inborn errors of metabolism +GARD:0016134,GARD:0022531,GARD:0002599,,Rare genetic disease +GARD:0016134,GARD:0022513,GARD:0002599,,Rare developmental defect during embryogenesis +GARD:0016135,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016135,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016135,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016136,GARD:0022522,GARD:0017635,,Rare hematologic disease +GARD:0016136,GARD:0022524,GARD:0000346,,Rare neurologic disease +GARD:0016136,GARD:0022531,GARD:0000346,,Rare genetic disease +GARD:0016136,GARD:0022513,GARD:0000346,,Rare developmental defect during embryogenesis +GARD:0016136,GARD:0022523,GARD:0000346,,Rare immune disease +GARD:0016136,GARD:0022536,GARD:0000346,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016136,GARD:0022536,GARD:0017635,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016136,GARD:0022522,GARD:0000346,,Rare hematologic disease +GARD:0016136,GARD:0022531,GARD:0017635,,Rare genetic disease +GARD:0016137,GARD:0022535,GARD:0010955,,Rare neoplastic disease +GARD:0016137,GARD:0022536,GARD:0010955,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016137,GARD:0022520,GARD:0010955,,Rare ophthalmic disorder +GARD:0016137,GARD:0022510,GARD:0010955,,Rare skin disease +GARD:0016137,GARD:0022515,GARD:0010955,,Rare cardiac disease +GARD:0016137,GARD:0022531,GARD:0010955,,Rare genetic disease +GARD:0016137,GARD:0022519,GARD:0010955,,Rare surgical cardiac disease +GARD:0016137,GARD:0022511,GARD:0010955,,Rare bone disease +GARD:0016137,GARD:0022529,GARD:0010955,,Rare infertility +GARD:0016137,GARD:0022513,GARD:0010955,,Rare developmental defect during embryogenesis +GARD:0016137,GARD:0022524,GARD:0010955,,Rare neurologic disease +GARD:0016137,GARD:0022521,GARD:0010955,,Rare endocrine disease +GARD:0016137,GARD:0022512,GARD:0010955,,Rare renal disease +GARD:0016137,GARD:0022527,GARD:0010955,,Rare circulatory system disease +GARD:0016138,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016138,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016138,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016139,GARD:0022524,GARD:0010955,,Rare neurologic disease +GARD:0016139,GARD:0022513,GARD:0010955,,Rare developmental defect during embryogenesis +GARD:0016139,GARD:0022521,GARD:0010955,,Rare endocrine disease +GARD:0016139,GARD:0022512,GARD:0010955,,Rare renal disease +GARD:0016139,GARD:0022520,GARD:0010955,,Rare ophthalmic disorder +GARD:0016139,GARD:0022510,GARD:0010955,,Rare skin disease +GARD:0016139,GARD:0022519,GARD:0010955,,Rare surgical cardiac disease +GARD:0016139,GARD:0022511,GARD:0010955,,Rare bone disease +GARD:0016139,GARD:0022536,GARD:0010955,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016139,GARD:0022515,GARD:0010955,,Rare cardiac disease +GARD:0016139,GARD:0022531,GARD:0010955,,Rare genetic disease +GARD:0016139,GARD:0022535,GARD:0010955,,Rare neoplastic disease +GARD:0016139,GARD:0022529,GARD:0010955,,Rare infertility +GARD:0016139,GARD:0022527,GARD:0010955,,Rare circulatory system disease +GARD:0016140,GARD:0022528,GARD:0006027,,Rare otorhinolaryngologic disease +GARD:0016140,GARD:0022510,GARD:0006027,,Rare skin disease +GARD:0016140,GARD:0022513,GARD:0006027,,Rare developmental defect during embryogenesis +GARD:0016140,GARD:0022535,GARD:0006027,,Rare neoplastic disease +GARD:0016140,GARD:0022531,GARD:0006027,,Rare genetic disease +GARD:0016140,GARD:0022524,GARD:0006027,,Rare neurologic disease +GARD:0016140,GARD:0022520,GARD:0006027,,Rare ophthalmic disorder +GARD:0016141,GARD:0022531,GARD:0006140,,Rare genetic disease +GARD:0016141,GARD:0022535,GARD:0006140,,Rare neoplastic disease +GARD:0016141,GARD:0022523,GARD:0006140,,Rare immune disease +GARD:0016142,GARD:0022510,GARD:0005739,,Rare skin disease +GARD:0016142,GARD:0022513,GARD:0005739,,Rare developmental defect during embryogenesis +GARD:0016142,GARD:0022531,GARD:0005739,,Rare genetic disease +GARD:0016142,GARD:0022520,GARD:0005739,,Rare ophthalmic disorder +GARD:0016142,GARD:0022511,GARD:0005739,,Rare bone disease +GARD:0016142,GARD:0022524,GARD:0005739,,Rare neurologic disease +GARD:0016143,GARD:0022531,GARD:0001639,,Rare genetic disease +GARD:0016143,GARD:0022518,GARD:0001639,,Rare surgical thoracic disease +GARD:0016143,GARD:0022534,GARD:0001639,,Rare abdominal surgical disease +GARD:0016143,GARD:0022513,GARD:0001639,,Rare developmental defect during embryogenesis +GARD:0016143,GARD:0022510,GARD:0001639,,Rare skin disease +GARD:0016144,GARD:0022526,GARD:0001687,,Rare odontologic disease +GARD:0016144,GARD:0022531,GARD:0001687,,Rare genetic disease +GARD:0016144,GARD:0022510,GARD:0001687,,Rare skin disease +GARD:0016144,GARD:0022513,GARD:0001687,,Rare developmental defect during embryogenesis +GARD:0016144,GARD:0022528,GARD:0001687,,Rare otorhinolaryngologic disease +GARD:0016145,GARD:0022531,GARD:0000322,,Rare genetic disease +GARD:0016145,GARD:0022512,GARD:0000322,,Rare renal disease +GARD:0016145,GARD:0022536,GARD:0000322,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016145,GARD:0022520,GARD:0000322,,Rare ophthalmic disorder +GARD:0016146,GARD:0022510,GARD:0010983,,Rare skin disease +GARD:0016146,GARD:0022531,GARD:0010983,,Rare genetic disease +GARD:0016147,GARD:0022524,GARD:0012919,,Rare neurologic disease +GARD:0016147,GARD:0022531,GARD:0012919,,Rare genetic disease +GARD:0016148,GARD:0022531,GARD:0005243,,Rare genetic disease +GARD:0016148,GARD:0022524,GARD:0005243,,Rare neurologic disease +GARD:0016148,GARD:0022508,GARD:0005243,,Rare inborn errors of metabolism +GARD:0016148,GARD:0022520,GARD:0005243,,Rare ophthalmic disorder +GARD:0016149,GARD:0022522,GARD:0006639,,Rare hematologic disease +GARD:0016149,GARD:0022531,GARD:0006639,,Rare genetic disease +GARD:0016150,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0016150,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0016150,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0016150,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0016151,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0016151,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0016151,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0016151,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0016152,GARD:0022522,GARD:0005623,,Rare hematologic disease +GARD:0016152,GARD:0022531,GARD:0005623,,Rare genetic disease +GARD:0016153,GARD:0022531,GARD:0015022,,Rare genetic disease +GARD:0016153,GARD:0022520,GARD:0015022,,Rare ophthalmic disorder +GARD:0016153,GARD:0022524,GARD:0015022,,Rare neurologic disease +GARD:0016153,GARD:0022513,GARD:0015023,,Rare developmental defect during embryogenesis +GARD:0016153,GARD:0022520,GARD:0015023,,Rare ophthalmic disorder +GARD:0016153,GARD:0022524,GARD:0015023,,Rare neurologic disease +GARD:0016153,GARD:0022513,GARD:0015022,,Rare developmental defect during embryogenesis +GARD:0016153,GARD:0022531,GARD:0015023,,Rare genetic disease +GARD:0016154,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0016154,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0016154,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0016155,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0016155,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016155,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0016156,GARD:0022531,GARD:0003589,,Rare genetic disease +GARD:0016156,GARD:0022524,GARD:0003589,,Rare neurologic disease +GARD:0016156,GARD:0022510,GARD:0003589,,Rare skin disease +GARD:0016157,GARD:0022510,GARD:0005597,,Rare skin disease +GARD:0016157,GARD:0022531,GARD:0005597,,Rare genetic disease +GARD:0016158,GARD:0022511,GARD:0008562,,Rare bone disease +GARD:0016158,GARD:0022524,GARD:0008562,,Rare neurologic disease +GARD:0016158,GARD:0022513,GARD:0008562,,Rare developmental defect during embryogenesis +GARD:0016158,GARD:0022531,GARD:0008562,,Rare genetic disease +GARD:0016159,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0016159,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0016159,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0016159,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0016160,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0016160,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0016160,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0016160,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0016161,GARD:0022524,GARD:0007185,,Rare neurologic disease +GARD:0016161,GARD:0022535,GARD:0007185,,Rare neoplastic disease +GARD:0016162,GARD:0022536,GARD:0007892,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016162,GARD:0022512,GARD:0007892,,Rare renal disease +GARD:0016162,GARD:0022531,GARD:0007892,,Rare genetic disease +GARD:0016162,GARD:0022535,GARD:0007892,,Rare neoplastic disease +GARD:0016163,GARD:0022531,GARD:0002033,,Rare genetic disease +GARD:0016163,GARD:0022524,GARD:0002033,,Rare neurologic disease +GARD:0016163,GARD:0022511,GARD:0002033,,Rare bone disease +GARD:0016163,GARD:0022513,GARD:0002033,,Rare developmental defect during embryogenesis +GARD:0016164,GARD:0022513,GARD:0000978,,Rare developmental defect during embryogenesis +GARD:0016164,GARD:0022531,GARD:0000978,,Rare genetic disease +GARD:0016164,GARD:0022511,GARD:0000978,,Rare bone disease +GARD:0016165,GARD:0022524,GARD:0009242,,Rare neurologic disease +GARD:0016165,GARD:0022531,GARD:0009242,,Rare genetic disease +GARD:0016166,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0016166,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0016166,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016167,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0016167,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016167,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0016168,GARD:0022524,GARD:0002945,,Rare neurologic disease +GARD:0016168,GARD:0022531,GARD:0002945,,Rare genetic disease +GARD:0016168,GARD:0022536,GARD:0002945,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016168,GARD:0022523,GARD:0002945,,Rare immune disease +GARD:0016169,GARD:0022523,GARD:0002945,,Rare immune disease +GARD:0016169,GARD:0022536,GARD:0002945,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016169,GARD:0022531,GARD:0002945,,Rare genetic disease +GARD:0016169,GARD:0022524,GARD:0002945,,Rare neurologic disease +GARD:0016170,GARD:0022511,GARD:0006124,,Rare bone disease +GARD:0016170,GARD:0022513,GARD:0006124,,Rare developmental defect during embryogenesis +GARD:0016170,GARD:0022531,GARD:0006124,,Rare genetic disease +GARD:0016170,GARD:0022524,GARD:0006124,,Rare neurologic disease +GARD:0016171,GARD:0022523,GARD:0009640,,Rare immune disease +GARD:0016171,GARD:0022531,GARD:0009640,,Rare genetic disease +GARD:0016172,GARD:0022520,GARD:0012109,,Rare ophthalmic disorder +GARD:0016172,GARD:0022524,GARD:0012109,,Rare neurologic disease +GARD:0016172,GARD:0022529,GARD:0012109,,Rare infertility +GARD:0016172,GARD:0022510,GARD:0012109,,Rare skin disease +GARD:0016172,GARD:0022513,GARD:0012109,,Rare developmental defect during embryogenesis +GARD:0016172,GARD:0022531,GARD:0012109,,Rare genetic disease +GARD:0016173,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0016173,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0016174,GARD:0022531,GARD:0009457,,Rare genetic disease +GARD:0016174,GARD:0022536,GARD:0009457,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016174,GARD:0022506,GARD:0009457,,Rare hepatic disease +GARD:0016175,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016175,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016176,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016176,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016176,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016177,GARD:0022520,GARD:0003995,,Rare ophthalmic disorder +GARD:0016177,GARD:0022531,GARD:0003995,,Rare genetic disease +GARD:0016178,GARD:0022524,GARD:0010705,,Rare neurologic disease +GARD:0016178,GARD:0022513,GARD:0010705,,Rare developmental defect during embryogenesis +GARD:0016178,GARD:0022531,GARD:0010705,,Rare genetic disease +GARD:0016180,GARD:0022536,GARD:0015026,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016180,GARD:0022523,GARD:0015026,,Rare immune disease +GARD:0016180,GARD:0022531,GARD:0015026,,Rare genetic disease +GARD:0016180,GARD:0022520,GARD:0015026,,Rare ophthalmic disorder +GARD:0016180,GARD:0022522,GARD:0015026,,Rare hematologic disease +GARD:0016180,GARD:0022508,GARD:0015026,,Rare inborn errors of metabolism +GARD:0016180,GARD:0022510,GARD:0015026,,Rare skin disease +GARD:0016181,GARD:0022531,GARD:0002033,,Rare genetic disease +GARD:0016181,GARD:0022524,GARD:0002033,,Rare neurologic disease +GARD:0016181,GARD:0022511,GARD:0002033,,Rare bone disease +GARD:0016181,GARD:0022513,GARD:0002033,,Rare developmental defect during embryogenesis +GARD:0016182,GARD:0022524,GARD:0007887,,Rare neurologic disease +GARD:0016182,GARD:0022531,GARD:0007887,,Rare genetic disease +GARD:0016183,GARD:0022520,GARD:0001191,,Rare ophthalmic disorder +GARD:0016183,GARD:0022531,GARD:0001191,,Rare genetic disease +GARD:0016183,GARD:0022508,GARD:0001191,,Rare inborn errors of metabolism +GARD:0016183,GARD:0022524,GARD:0001191,,Rare neurologic disease +GARD:0016184,GARD:0022517,GARD:0007163,,Rare respiratory disease +GARD:0016184,GARD:0022535,GARD:0007163,,Rare neoplastic disease +GARD:0016184,GARD:0022528,GARD:0007163,,Rare otorhinolaryngologic disease +GARD:0016185,GARD:0022513,GARD:0003049,,Rare developmental defect during embryogenesis +GARD:0016185,GARD:0022510,GARD:0001301,,Rare skin disease +GARD:0016185,GARD:0022512,GARD:0001301,,Rare renal disease +GARD:0016185,GARD:0022536,GARD:0001301,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016185,GARD:0022536,GARD:0003049,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016185,GARD:0022531,GARD:0003049,,Rare genetic disease +GARD:0016185,GARD:0022517,GARD:0003049,,Rare respiratory disease +GARD:0016185,GARD:0022511,GARD:0003049,,Rare bone disease +GARD:0016185,GARD:0022512,GARD:0003049,,Rare renal disease +GARD:0016185,GARD:0022511,GARD:0001301,,Rare bone disease +GARD:0016185,GARD:0022513,GARD:0001301,,Rare developmental defect during embryogenesis +GARD:0016185,GARD:0022531,GARD:0001301,,Rare genetic disease +GARD:0016185,GARD:0022519,GARD:0001301,,Rare surgical cardiac disease +GARD:0016185,GARD:0022517,GARD:0001301,,Rare respiratory disease +GARD:0016186,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0016186,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0016186,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0016186,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0016187,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0016187,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0016187,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0016188,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0016188,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0016188,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0016189,GARD:0022531,GARD:0000359,,Rare genetic disease +GARD:0016189,GARD:0022513,GARD:0000359,,Rare developmental defect during embryogenesis +GARD:0016189,GARD:0022520,GARD:0000359,,Rare ophthalmic disorder +GARD:0016189,GARD:0022517,GARD:0000359,,Rare respiratory disease +GARD:0016189,GARD:0022512,GARD:0000359,,Rare renal disease +GARD:0016189,GARD:0022511,GARD:0000359,,Rare bone disease +GARD:0016189,GARD:0022510,GARD:0000359,,Rare skin disease +GARD:0016189,GARD:0022536,GARD:0000359,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016190,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016190,GARD:0022508,GARD:0016581,,Rare inborn errors of metabolism +GARD:0016190,GARD:0022531,GARD:0016581,,Rare genetic disease +GARD:0016190,GARD:0022524,GARD:0016581,,Rare neurologic disease +GARD:0016190,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016191,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016191,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016192,GARD:0022531,GARD:0009912,,Rare genetic disease +GARD:0016192,GARD:0022524,GARD:0009912,,Rare neurologic disease +GARD:0016193,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016193,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0016193,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0016193,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0016193,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0016193,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0016193,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0016193,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0016193,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0016193,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0016193,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0016194,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0016194,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0016194,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0016194,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0016195,GARD:0022520,GARD:0010168,,Rare ophthalmic disorder +GARD:0016195,GARD:0022531,GARD:0010168,,Rare genetic disease +GARD:0016195,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0016195,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0016195,GARD:0022524,GARD:0010168,,Rare neurologic disease +GARD:0016195,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0016195,GARD:0022513,GARD:0010168,,Rare developmental defect during embryogenesis +GARD:0016195,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0016196,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016196,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016196,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016197,GARD:0022520,GARD:0004412,,Rare ophthalmic disorder +GARD:0016197,GARD:0022511,GARD:0004412,,Rare bone disease +GARD:0016197,GARD:0022513,GARD:0004412,,Rare developmental defect during embryogenesis +GARD:0016197,GARD:0022507,GARD:0004412,,Rare maxillo-facial surgical disease +GARD:0016197,GARD:0022531,GARD:0004412,,Rare genetic disease +GARD:0016197,GARD:0022528,GARD:0004412,,Rare otorhinolaryngologic disease +GARD:0016197,GARD:0022524,GARD:0004412,,Rare neurologic disease +GARD:0016198,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016198,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016199,GARD:0022531,GARD:0000826,,Rare genetic disease +GARD:0016199,GARD:0022513,GARD:0000826,,Rare developmental defect during embryogenesis +GARD:0016199,GARD:0022511,GARD:0000826,,Rare bone disease +GARD:0016199,GARD:0022524,GARD:0000826,,Rare neurologic disease +GARD:0016200,GARD:0022531,GARD:0005816,,Rare genetic disease +GARD:0016200,GARD:0022513,GARD:0005816,,Rare developmental defect during embryogenesis +GARD:0016200,GARD:0022520,GARD:0005816,,Rare ophthalmic disorder +GARD:0016201,GARD:0022520,GARD:0005816,,Rare ophthalmic disorder +GARD:0016201,GARD:0022531,GARD:0005816,,Rare genetic disease +GARD:0016201,GARD:0022513,GARD:0005816,,Rare developmental defect during embryogenesis +GARD:0016202,GARD:0022520,GARD:0015023,,Rare ophthalmic disorder +GARD:0016202,GARD:0022531,GARD:0015023,,Rare genetic disease +GARD:0016202,GARD:0022524,GARD:0015023,,Rare neurologic disease +GARD:0016202,GARD:0022513,GARD:0015023,,Rare developmental defect during embryogenesis +GARD:0016203,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016203,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016204,GARD:0022508,GARD:0009493,,Rare inborn errors of metabolism +GARD:0016204,GARD:0022531,GARD:0009493,,Rare genetic disease +GARD:0016204,GARD:0022524,GARD:0009493,,Rare neurologic disease +GARD:0016204,GARD:0022522,GARD:0009493,,Rare hematologic disease +GARD:0016205,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016205,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016206,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016206,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016207,GARD:0022525,GARD:0002249,,Rare systemic or rheumatologic disease +GARD:0016207,GARD:0022518,GARD:0002249,,Rare surgical thoracic disease +GARD:0016207,GARD:0022527,GARD:0002249,,Rare circulatory system disease +GARD:0016207,GARD:0022531,GARD:0002249,,Rare genetic disease +GARD:0016208,GARD:0022531,GARD:0010091,,Rare genetic disease +GARD:0016208,GARD:0022535,GARD:0010091,,Rare neoplastic disease +GARD:0016208,GARD:0022511,GARD:0010091,,Rare bone disease +GARD:0016208,GARD:0022513,GARD:0010091,,Rare developmental defect during embryogenesis +GARD:0016208,GARD:0022520,GARD:0010091,,Rare ophthalmic disorder +GARD:0016208,GARD:0022524,GARD:0010091,,Rare neurologic disease +GARD:0016209,GARD:0022526,GARD:0012474,,Rare odontologic disease +GARD:0016209,GARD:0022510,GARD:0012474,,Rare skin disease +GARD:0016209,GARD:0022531,GARD:0012474,,Rare genetic disease +GARD:0016209,GARD:0022513,GARD:0012474,,Rare developmental defect during embryogenesis +GARD:0016209,GARD:0022525,GARD:0012474,,Rare systemic or rheumatologic disease +GARD:0016210,GARD:0022513,GARD:0012724,,Rare developmental defect during embryogenesis +GARD:0016210,GARD:0022524,GARD:0012724,,Rare neurologic disease +GARD:0016210,GARD:0022531,GARD:0012724,,Rare genetic disease +GARD:0016211,GARD:0022531,GARD:0008349,,Rare genetic disease +GARD:0016211,GARD:0022526,GARD:0008349,,Rare odontologic disease +GARD:0016212,GARD:0022520,GARD:0015023,,Rare ophthalmic disorder +GARD:0016212,GARD:0022531,GARD:0015023,,Rare genetic disease +GARD:0016212,GARD:0022513,GARD:0015023,,Rare developmental defect during embryogenesis +GARD:0016212,GARD:0022524,GARD:0015023,,Rare neurologic disease +GARD:0016213,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0016213,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0016213,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0016213,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0016213,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0016213,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0016213,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0016213,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016213,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0016214,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0016214,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0016214,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0016214,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0016214,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016214,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0016214,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0016214,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0016214,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0016215,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0016215,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0016215,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0016215,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0016215,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0016215,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016215,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0016215,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0016215,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0016216,GARD:0022531,GARD:0005404,,Rare genetic disease +GARD:0016216,GARD:0022510,GARD:0005404,,Rare skin disease +GARD:0016217,GARD:0022510,GARD:0005404,,Rare skin disease +GARD:0016217,GARD:0022531,GARD:0005404,,Rare genetic disease +GARD:0016218,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0016218,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0016219,GARD:0022515,GARD:0009740,,Rare cardiac disease +GARD:0016219,GARD:0022531,GARD:0009740,,Rare genetic disease +GARD:0016220,GARD:0022531,GARD:0000645,,Rare genetic disease +GARD:0016220,GARD:0022526,GARD:0000645,,Rare odontologic disease +GARD:0016221,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016221,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016221,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016222,GARD:0022524,GARD:0007171,,Rare neurologic disease +GARD:0016222,GARD:0022531,GARD:0007171,,Rare genetic disease +GARD:0016223,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0016223,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0016224,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0016224,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0016225,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0016225,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0016226,GARD:0022520,GARD:0006866,,Rare ophthalmic disorder +GARD:0016226,GARD:0022512,GARD:0006866,,Rare renal disease +GARD:0016226,GARD:0022513,GARD:0006866,,Rare developmental defect during embryogenesis +GARD:0016226,GARD:0022524,GARD:0006866,,Rare neurologic disease +GARD:0016226,GARD:0022521,GARD:0006866,,Rare endocrine disease +GARD:0016226,GARD:0022536,GARD:0006866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016226,GARD:0022514,GARD:0006866,,Rare gynecologic or obstetric disease +GARD:0016226,GARD:0022516,GARD:0006866,,Rare gastroenterologic disease +GARD:0016226,GARD:0022534,GARD:0006866,,Rare abdominal surgical disease +GARD:0016226,GARD:0022531,GARD:0006866,,Rare genetic disease +GARD:0016226,GARD:0022529,GARD:0006866,,Rare infertility +GARD:0016227,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0016227,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0016227,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0016227,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0016227,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016227,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0016227,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0016227,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0016227,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0016228,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0016228,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0016228,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0016228,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0016228,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0016228,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0016228,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0016228,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016228,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0016229,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016229,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016229,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016230,GARD:0022531,GARD:0004224,,Rare genetic disease +GARD:0016230,GARD:0022522,GARD:0004224,,Rare hematologic disease +GARD:0016230,GARD:0022513,GARD:0004224,,Rare developmental defect during embryogenesis +GARD:0016231,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016231,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016231,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016232,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0016232,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0016233,GARD:0022531,GARD:0003605,,Rare genetic disease +GARD:0016233,GARD:0022513,GARD:0003605,,Rare developmental defect during embryogenesis +GARD:0016233,GARD:0022524,GARD:0003605,,Rare neurologic disease +GARD:0016234,GARD:0022513,GARD:0012682,,Rare developmental defect during embryogenesis +GARD:0016234,GARD:0022520,GARD:0012682,,Rare ophthalmic disorder +GARD:0016234,GARD:0022524,GARD:0012682,,Rare neurologic disease +GARD:0016234,GARD:0022531,GARD:0012682,,Rare genetic disease +GARD:0016235,GARD:0022524,GARD:0007878,,Rare neurologic disease +GARD:0016235,GARD:0022531,GARD:0007878,,Rare genetic disease +GARD:0016235,GARD:0022511,GARD:0007878,,Rare bone disease +GARD:0016235,GARD:0022513,GARD:0007878,,Rare developmental defect during embryogenesis +GARD:0016236,GARD:0022524,GARD:0003436,,Rare neurologic disease +GARD:0016236,GARD:0022511,GARD:0003436,,Rare bone disease +GARD:0016236,GARD:0022531,GARD:0003436,,Rare genetic disease +GARD:0016236,GARD:0022513,GARD:0003436,,Rare developmental defect during embryogenesis +GARD:0016236,GARD:0022528,GARD:0003436,,Rare otorhinolaryngologic disease +GARD:0016236,GARD:0022512,GARD:0003436,,Rare renal disease +GARD:0016236,GARD:0022507,GARD:0003436,,Rare maxillo-facial surgical disease +GARD:0016236,GARD:0022536,GARD:0003436,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016236,GARD:0022534,GARD:0003436,,Rare abdominal surgical disease +GARD:0016236,GARD:0022520,GARD:0003436,,Rare ophthalmic disorder +GARD:0016237,GARD:0022514,GARD:0002542,,Rare gynecologic or obstetric disease +GARD:0016237,GARD:0022508,GARD:0002542,,Rare inborn errors of metabolism +GARD:0016237,GARD:0022532,GARD:0002542,,Rare urogenital disease +GARD:0016237,GARD:0022513,GARD:0002542,,Rare developmental defect during embryogenesis +GARD:0016237,GARD:0022521,GARD:0002542,,Rare endocrine disease +GARD:0016237,GARD:0022528,GARD:0002542,,Rare otorhinolaryngologic disease +GARD:0016237,GARD:0022531,GARD:0002542,,Rare genetic disease +GARD:0016237,GARD:0022529,GARD:0002542,,Rare infertility +GARD:0016238,GARD:0022531,GARD:0001613,,Rare genetic disease +GARD:0016238,GARD:0022520,GARD:0001613,,Rare ophthalmic disorder +GARD:0016238,GARD:0022524,GARD:0001613,,Rare neurologic disease +GARD:0016239,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0016239,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0016239,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0016240,GARD:0022531,GARD:0003007,,Rare genetic disease +GARD:0016240,GARD:0022535,GARD:0003007,,Rare neoplastic disease +GARD:0016240,GARD:0022520,GARD:0003007,,Rare ophthalmic disorder +GARD:0016240,GARD:0022524,GARD:0003007,,Rare neurologic disease +GARD:0016240,GARD:0022513,GARD:0003007,,Rare developmental defect during embryogenesis +GARD:0016241,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0016241,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0016242,GARD:0022529,GARD:0008378,,Rare infertility +GARD:0016242,GARD:0022536,GARD:0008378,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016242,GARD:0022506,GARD:0008378,,Rare hepatic disease +GARD:0016242,GARD:0022531,GARD:0008378,,Rare genetic disease +GARD:0016242,GARD:0022512,GARD:0008378,,Rare renal disease +GARD:0016243,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0016243,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0016243,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0016243,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0016244,GARD:0022513,GARD:0002071,,Rare developmental defect during embryogenesis +GARD:0016244,GARD:0022531,GARD:0002071,,Rare genetic disease +GARD:0016244,GARD:0022528,GARD:0002071,,Rare otorhinolaryngologic disease +GARD:0016244,GARD:0022510,GARD:0002071,,Rare skin disease +GARD:0016244,GARD:0022507,GARD:0002071,,Rare maxillo-facial surgical disease +GARD:0016244,GARD:0022520,GARD:0002071,,Rare ophthalmic disorder +GARD:0016244,GARD:0022526,GARD:0002071,,Rare odontologic disease +GARD:0016245,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0016245,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0016246,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0016246,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0016247,GARD:0022512,GARD:0000065,,Rare renal disease +GARD:0016247,GARD:0022513,GARD:0000065,,Rare developmental defect during embryogenesis +GARD:0016247,GARD:0022524,GARD:0000065,,Rare neurologic disease +GARD:0016247,GARD:0022536,GARD:0000065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016247,GARD:0022531,GARD:0000065,,Rare genetic disease +GARD:0016248,GARD:0022524,GARD:0000065,,Rare neurologic disease +GARD:0016248,GARD:0022512,GARD:0000065,,Rare renal disease +GARD:0016248,GARD:0022536,GARD:0000065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016248,GARD:0022531,GARD:0000065,,Rare genetic disease +GARD:0016248,GARD:0022513,GARD:0000065,,Rare developmental defect during embryogenesis +GARD:0016249,GARD:0022513,GARD:0000065,,Rare developmental defect during embryogenesis +GARD:0016249,GARD:0022531,GARD:0000065,,Rare genetic disease +GARD:0016249,GARD:0022524,GARD:0000065,,Rare neurologic disease +GARD:0016249,GARD:0022536,GARD:0000065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016249,GARD:0022512,GARD:0000065,,Rare renal disease +GARD:0016250,GARD:0022531,GARD:0006161,,Rare genetic disease +GARD:0016250,GARD:0022524,GARD:0006161,,Rare neurologic disease +GARD:0016251,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0016251,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0016251,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0016251,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0016252,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016252,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016252,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016253,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0016253,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0016253,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0016253,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0016254,GARD:0022511,GARD:0006124,,Rare bone disease +GARD:0016254,GARD:0022524,GARD:0006124,,Rare neurologic disease +GARD:0016254,GARD:0022531,GARD:0006124,,Rare genetic disease +GARD:0016254,GARD:0022513,GARD:0006124,,Rare developmental defect during embryogenesis +GARD:0016255,GARD:0022531,GARD:0002449,,Rare genetic disease +GARD:0016255,GARD:0022513,GARD:0002449,,Rare developmental defect during embryogenesis +GARD:0016255,GARD:0022511,GARD:0002449,,Rare bone disease +GARD:0016256,GARD:0022513,GARD:0002084,,Rare developmental defect during embryogenesis +GARD:0016256,GARD:0022531,GARD:0002084,,Rare genetic disease +GARD:0016256,GARD:0022510,GARD:0002084,,Rare skin disease +GARD:0016256,GARD:0022525,GARD:0002084,,Rare systemic or rheumatologic disease +GARD:0016257,GARD:0022521,GARD:0002498,,Rare endocrine disease +GARD:0016257,GARD:0022531,GARD:0002498,,Rare genetic disease +GARD:0016257,GARD:0022524,GARD:0002498,,Rare neurologic disease +GARD:0016258,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016258,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016259,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016259,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016260,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016260,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016261,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016261,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016262,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0016263,GARD:0022535,GARD:0006902,,Rare neoplastic disease +GARD:0016263,GARD:0022521,GARD:0006902,,Rare endocrine disease +GARD:0016263,GARD:0022531,GARD:0006902,,Rare genetic disease +GARD:0016263,GARD:0022524,GARD:0006902,,Rare neurologic disease +GARD:0016264,GARD:0022531,GARD:0006425,,Rare genetic disease +GARD:0016264,GARD:0022510,GARD:0006425,,Rare skin disease +GARD:0016264,GARD:0022536,GARD:0006425,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016264,GARD:0022535,GARD:0006425,,Rare neoplastic disease +GARD:0016264,GARD:0022512,GARD:0006425,,Rare renal disease +GARD:0016264,GARD:0022511,GARD:0006425,,Rare bone disease +GARD:0016264,GARD:0022524,GARD:0006425,,Rare neurologic disease +GARD:0016264,GARD:0022522,GARD:0006425,,Rare hematologic disease +GARD:0016264,GARD:0022513,GARD:0006425,,Rare developmental defect during embryogenesis +GARD:0016265,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0016266,GARD:0022524,GARD:0010917,,Rare neurologic disease +GARD:0016266,GARD:0022531,GARD:0010917,,Rare genetic disease +GARD:0016267,GARD:0022531,GARD:0006649,,Rare genetic disease +GARD:0016267,GARD:0022524,GARD:0006649,,Rare neurologic disease +GARD:0016267,GARD:0022509,GARD:0006649,,Rare infectious disease +GARD:0016267,GARD:0022523,GARD:0006649,,Rare immune disease +GARD:0016268,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0016268,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0016268,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0016268,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0016269,GARD:0022531,GARD:0006808,,Rare genetic disease +GARD:0016269,GARD:0022524,GARD:0006808,,Rare neurologic disease +GARD:0016270,GARD:0022531,GARD:0007887,,Rare genetic disease +GARD:0016270,GARD:0022524,GARD:0007887,,Rare neurologic disease +GARD:0016271,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016271,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016272,GARD:0022511,GARD:0004863,,Rare bone disease +GARD:0016272,GARD:0022535,GARD:0004863,,Rare neoplastic disease +GARD:0016272,GARD:0022516,GARD:0004863,,Rare gastroenterologic disease +GARD:0016272,GARD:0022522,GARD:0004863,,Rare hematologic disease +GARD:0016272,GARD:0022524,GARD:0004863,,Rare neurologic disease +GARD:0016272,GARD:0022513,GARD:0004863,,Rare developmental defect during embryogenesis +GARD:0016272,GARD:0022523,GARD:0004863,,Rare immune disease +GARD:0016272,GARD:0022536,GARD:0004863,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016272,GARD:0022531,GARD:0004863,,Rare genetic disease +GARD:0016273,GARD:0022522,GARD:0006621,,Rare hematologic disease +GARD:0016273,GARD:0022531,GARD:0006621,,Rare genetic disease +GARD:0016274,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0016274,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0016275,GARD:0022531,GARD:0012916,,Rare genetic disease +GARD:0016275,GARD:0022522,GARD:0012916,,Rare hematologic disease +GARD:0016276,GARD:0022531,GARD:0013007,,Rare genetic disease +GARD:0016276,GARD:0022536,GARD:0013007,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016276,GARD:0022522,GARD:0013007,,Rare hematologic disease +GARD:0016277,GARD:0022531,GARD:0013007,,Rare genetic disease +GARD:0016277,GARD:0022522,GARD:0013007,,Rare hematologic disease +GARD:0016277,GARD:0022536,GARD:0013007,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016278,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0016278,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0016278,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0016278,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0016279,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0016279,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0016279,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0016279,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0016280,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0016280,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0016280,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0016280,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0016281,GARD:0022508,GARD:0010879,,Rare inborn errors of metabolism +GARD:0016281,GARD:0022521,GARD:0010879,,Rare endocrine disease +GARD:0016281,GARD:0022510,GARD:0010879,,Rare skin disease +GARD:0016281,GARD:0022531,GARD:0010879,,Rare genetic disease +GARD:0016281,GARD:0022511,GARD:0010879,,Rare bone disease +GARD:0016281,GARD:0022535,GARD:0010879,,Rare neoplastic disease +GARD:0016281,GARD:0022513,GARD:0010879,,Rare developmental defect during embryogenesis +GARD:0016282,GARD:0022531,GARD:0010879,,Rare genetic disease +GARD:0016282,GARD:0022521,GARD:0010879,,Rare endocrine disease +GARD:0016282,GARD:0022511,GARD:0010879,,Rare bone disease +GARD:0016282,GARD:0022513,GARD:0010879,,Rare developmental defect during embryogenesis +GARD:0016282,GARD:0022508,GARD:0010879,,Rare inborn errors of metabolism +GARD:0016282,GARD:0022510,GARD:0010879,,Rare skin disease +GARD:0016282,GARD:0022535,GARD:0010879,,Rare neoplastic disease +GARD:0016283,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016283,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016284,GARD:0022508,GARD:0003129,,Rare inborn errors of metabolism +GARD:0016284,GARD:0022524,GARD:0003129,,Rare neurologic disease +GARD:0016284,GARD:0022531,GARD:0003129,,Rare genetic disease +GARD:0016285,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016285,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016286,GARD:0022520,GARD:0000386,,Rare ophthalmic disorder +GARD:0016286,GARD:0022513,GARD:0000386,,Rare developmental defect during embryogenesis +GARD:0016286,GARD:0022511,GARD:0000386,,Rare bone disease +GARD:0016286,GARD:0022531,GARD:0000386,,Rare genetic disease +GARD:0016287,GARD:0022513,GARD:0006124,,Rare developmental defect during embryogenesis +GARD:0016287,GARD:0022531,GARD:0006124,,Rare genetic disease +GARD:0016287,GARD:0022524,GARD:0006124,,Rare neurologic disease +GARD:0016287,GARD:0022511,GARD:0006124,,Rare bone disease +GARD:0016288,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0016288,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0016288,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0016289,GARD:0022524,GARD:0010704,,Rare neurologic disease +GARD:0016289,GARD:0022531,GARD:0010704,,Rare genetic disease +GARD:0016289,GARD:0022513,GARD:0010704,,Rare developmental defect during embryogenesis +GARD:0016290,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0016290,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0016291,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0016291,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0016292,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0016292,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0016293,GARD:0022510,GARD:0001301,,Rare skin disease +GARD:0016293,GARD:0022512,GARD:0001301,,Rare renal disease +GARD:0016293,GARD:0022519,GARD:0001301,,Rare surgical cardiac disease +GARD:0016293,GARD:0022531,GARD:0001301,,Rare genetic disease +GARD:0016293,GARD:0022536,GARD:0001301,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016293,GARD:0022511,GARD:0001301,,Rare bone disease +GARD:0016293,GARD:0022513,GARD:0001301,,Rare developmental defect during embryogenesis +GARD:0016293,GARD:0022517,GARD:0001301,,Rare respiratory disease +GARD:0016294,GARD:0022531,GARD:0002599,,Rare genetic disease +GARD:0016294,GARD:0022520,GARD:0002599,,Rare ophthalmic disorder +GARD:0016294,GARD:0022513,GARD:0002599,,Rare developmental defect during embryogenesis +GARD:0016294,GARD:0022524,GARD:0002599,,Rare neurologic disease +GARD:0016294,GARD:0022508,GARD:0002599,,Rare inborn errors of metabolism +GARD:0016295,GARD:0022524,GARD:0009912,,Rare neurologic disease +GARD:0016295,GARD:0022531,GARD:0009912,,Rare genetic disease +GARD:0016296,GARD:0022510,GARD:0003318,,Rare skin disease +GARD:0016296,GARD:0022527,GARD:0003318,,Rare circulatory system disease +GARD:0016296,GARD:0022524,GARD:0003318,,Rare neurologic disease +GARD:0016296,GARD:0022523,GARD:0003318,,Rare immune disease +GARD:0016296,GARD:0022531,GARD:0003318,,Rare genetic disease +GARD:0016296,GARD:0022513,GARD:0003318,,Rare developmental defect during embryogenesis +GARD:0016297,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0016297,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0016297,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0016297,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0016298,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016298,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016298,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016299,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016299,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0016299,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0016300,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016300,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0016300,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0016301,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0016301,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016301,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0016302,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0016302,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0016302,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0016302,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016302,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0016302,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0016302,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0016303,GARD:0022531,GARD:0012724,,Rare genetic disease +GARD:0016303,GARD:0022513,GARD:0012724,,Rare developmental defect during embryogenesis +GARD:0016303,GARD:0022524,GARD:0012724,,Rare neurologic disease +GARD:0016304,GARD:0022511,GARD:0002838,,Rare bone disease +GARD:0016304,GARD:0022513,GARD:0002838,,Rare developmental defect during embryogenesis +GARD:0016304,GARD:0022521,GARD:0002838,,Rare endocrine disease +GARD:0016304,GARD:0022531,GARD:0002838,,Rare genetic disease +GARD:0016305,GARD:0022515,GARD:0002905,,Rare cardiac disease +GARD:0016305,GARD:0022531,GARD:0002905,,Rare genetic disease +GARD:0016305,GARD:0022536,GARD:0002905,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016306,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016306,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016306,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016307,GARD:0022527,GARD:0005467,,Rare circulatory system disease +GARD:0016307,GARD:0022524,GARD:0005467,,Rare neurologic disease +GARD:0016307,GARD:0022513,GARD:0005467,,Rare developmental defect during embryogenesis +GARD:0016307,GARD:0022531,GARD:0005467,,Rare genetic disease +GARD:0016308,GARD:0022513,GARD:0015023,,Rare developmental defect during embryogenesis +GARD:0016308,GARD:0022531,GARD:0015023,,Rare genetic disease +GARD:0016308,GARD:0022520,GARD:0015023,,Rare ophthalmic disorder +GARD:0016308,GARD:0022524,GARD:0015023,,Rare neurologic disease +GARD:0016309,GARD:0022513,GARD:0015023,,Rare developmental defect during embryogenesis +GARD:0016309,GARD:0022531,GARD:0015023,,Rare genetic disease +GARD:0016309,GARD:0022520,GARD:0015023,,Rare ophthalmic disorder +GARD:0016309,GARD:0022524,GARD:0015023,,Rare neurologic disease +GARD:0016310,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016310,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016311,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016311,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016311,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016312,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016312,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0016312,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0016312,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016312,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0016312,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016312,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0016313,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0016313,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0016313,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0016313,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0016313,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016313,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016313,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016314,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016314,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0016314,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0016314,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016314,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0016314,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0016314,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016315,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0016315,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016315,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0016315,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0016315,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016315,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016315,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0016316,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0016316,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016316,GARD:0022524,GARD:0016685,,Rare neurologic disease +GARD:0016316,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0016316,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0016316,GARD:0022508,GARD:0016685,,Rare inborn errors of metabolism +GARD:0016316,GARD:0022531,GARD:0016685,,Rare genetic disease +GARD:0016316,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016316,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0016316,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016316,GARD:0022520,GARD:0016685,,Rare ophthalmic disorder +GARD:0016317,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0016317,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0016317,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016317,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016317,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0016317,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0016317,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016318,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016318,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0016318,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016318,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0016318,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0016318,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0016318,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016319,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016319,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016319,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016320,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0016320,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0016320,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016320,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016320,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0016320,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016320,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0016321,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016321,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016321,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016322,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016322,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016322,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016323,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016323,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016323,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016324,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016324,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016324,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016325,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016325,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0016325,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016325,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0016325,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016325,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0016325,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0016326,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0016326,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0016326,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016326,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016326,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0016326,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0016326,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016327,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016327,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016327,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016328,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016328,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016328,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016329,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016329,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016329,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016330,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016330,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016330,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016331,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016331,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016331,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016332,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016332,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016332,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016333,GARD:0022524,GARD:0012551,,Rare neurologic disease +GARD:0016333,GARD:0022531,GARD:0012551,,Rare genetic disease +GARD:0016334,GARD:0022531,GARD:0006357,,Rare genetic disease +GARD:0016334,GARD:0022523,GARD:0006357,,Rare immune disease +GARD:0016334,GARD:0022510,GARD:0006357,,Rare skin disease +GARD:0016334,GARD:0022535,GARD:0006357,,Rare neoplastic disease +GARD:0016335,GARD:0022531,GARD:0009170,,Rare genetic disease +GARD:0016335,GARD:0022510,GARD:0009170,,Rare skin disease +GARD:0016336,GARD:0022531,GARD:0007887,,Rare genetic disease +GARD:0016336,GARD:0022524,GARD:0007887,,Rare neurologic disease +GARD:0016337,GARD:0022523,GARD:0006357,,Rare immune disease +GARD:0016337,GARD:0022535,GARD:0006357,,Rare neoplastic disease +GARD:0016337,GARD:0022531,GARD:0006357,,Rare genetic disease +GARD:0016337,GARD:0022510,GARD:0006357,,Rare skin disease +GARD:0016338,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0016338,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0016338,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0016338,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016338,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0016338,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0016338,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0016338,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0016338,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0016339,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0016339,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016339,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0016339,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0016339,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0016339,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0016339,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0016339,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0016339,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0016340,GARD:0022528,GARD:0006274,,Rare otorhinolaryngologic disease +GARD:0016340,GARD:0022508,GARD:0006274,,Rare inborn errors of metabolism +GARD:0016340,GARD:0022507,GARD:0006274,,Rare maxillo-facial surgical disease +GARD:0016340,GARD:0022535,GARD:0006274,,Rare neoplastic disease +GARD:0016340,GARD:0022524,GARD:0006274,,Rare neurologic disease +GARD:0016340,GARD:0022513,GARD:0006274,,Rare developmental defect during embryogenesis +GARD:0016340,GARD:0022531,GARD:0006274,,Rare genetic disease +GARD:0016340,GARD:0022522,GARD:0006274,,Rare hematologic disease +GARD:0016340,GARD:0022536,GARD:0006274,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016341,GARD:0022524,GARD:0015023,,Rare neurologic disease +GARD:0016341,GARD:0022513,GARD:0015023,,Rare developmental defect during embryogenesis +GARD:0016341,GARD:0022520,GARD:0015023,,Rare ophthalmic disorder +GARD:0016341,GARD:0022531,GARD:0015023,,Rare genetic disease +GARD:0016342,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016342,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016342,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016343,GARD:0022524,GARD:0000065,,Rare neurologic disease +GARD:0016343,GARD:0022536,GARD:0000065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016343,GARD:0022512,GARD:0000065,,Rare renal disease +GARD:0016343,GARD:0022513,GARD:0000065,,Rare developmental defect during embryogenesis +GARD:0016343,GARD:0022531,GARD:0000065,,Rare genetic disease +GARD:0016344,GARD:0022536,GARD:0000065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016344,GARD:0022531,GARD:0000065,,Rare genetic disease +GARD:0016344,GARD:0022524,GARD:0000065,,Rare neurologic disease +GARD:0016344,GARD:0022512,GARD:0000065,,Rare renal disease +GARD:0016344,GARD:0022513,GARD:0000065,,Rare developmental defect during embryogenesis +GARD:0016345,GARD:0022524,GARD:0000065,,Rare neurologic disease +GARD:0016345,GARD:0022536,GARD:0000065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016345,GARD:0022512,GARD:0000065,,Rare renal disease +GARD:0016345,GARD:0022531,GARD:0000065,,Rare genetic disease +GARD:0016345,GARD:0022513,GARD:0000065,,Rare developmental defect during embryogenesis +GARD:0016346,GARD:0022524,GARD:0012117,,Rare neurologic disease +GARD:0016346,GARD:0022513,GARD:0012117,,Rare developmental defect during embryogenesis +GARD:0016346,GARD:0022531,GARD:0012117,,Rare genetic disease +GARD:0016346,GARD:0022520,GARD:0012117,,Rare ophthalmic disorder +GARD:0016347,GARD:0022513,GARD:0006124,,Rare developmental defect during embryogenesis +GARD:0016347,GARD:0022524,GARD:0006124,,Rare neurologic disease +GARD:0016347,GARD:0022511,GARD:0006124,,Rare bone disease +GARD:0016347,GARD:0022531,GARD:0006124,,Rare genetic disease +GARD:0016348,GARD:0022510,GARD:0004982,,Rare skin disease +GARD:0016348,GARD:0022513,GARD:0004982,,Rare developmental defect during embryogenesis +GARD:0016348,GARD:0022508,GARD:0004982,,Rare inborn errors of metabolism +GARD:0016348,GARD:0022531,GARD:0004982,,Rare genetic disease +GARD:0016348,GARD:0022511,GARD:0004982,,Rare bone disease +GARD:0016348,GARD:0022520,GARD:0004982,,Rare ophthalmic disorder +GARD:0016349,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016349,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016350,GARD:0022513,GARD:0001159,,Rare developmental defect during embryogenesis +GARD:0016350,GARD:0022531,GARD:0001159,,Rare genetic disease +GARD:0016350,GARD:0022520,GARD:0001159,,Rare ophthalmic disorder +GARD:0016351,GARD:0022531,GARD:0016556,,Rare genetic disease +GARD:0016351,GARD:0022513,GARD:0016556,,Rare developmental defect during embryogenesis +GARD:0016351,GARD:0022524,GARD:0016556,,Rare neurologic disease +GARD:0016351,GARD:0022513,GARD:0000787,,Rare developmental defect during embryogenesis +GARD:0016351,GARD:0022524,GARD:0000787,,Rare neurologic disease +GARD:0016351,GARD:0022531,GARD:0000787,,Rare genetic disease +GARD:0016352,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016352,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016353,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0016353,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0016353,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0016354,GARD:0022521,GARD:0011984,,Rare endocrine disease +GARD:0016354,GARD:0022535,GARD:0011984,,Rare neoplastic disease +GARD:0016354,GARD:0022531,GARD:0011984,,Rare genetic disease +GARD:0016355,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016355,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016356,GARD:0022535,GARD:0011984,,Rare neoplastic disease +GARD:0016356,GARD:0022521,GARD:0011984,,Rare endocrine disease +GARD:0016356,GARD:0022531,GARD:0011984,,Rare genetic disease +GARD:0016357,GARD:0022520,GARD:0010955,,Rare ophthalmic disorder +GARD:0016357,GARD:0022529,GARD:0010955,,Rare infertility +GARD:0016357,GARD:0022513,GARD:0010955,,Rare developmental defect during embryogenesis +GARD:0016357,GARD:0022536,GARD:0010955,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016357,GARD:0022515,GARD:0010955,,Rare cardiac disease +GARD:0016357,GARD:0022531,GARD:0010955,,Rare genetic disease +GARD:0016357,GARD:0022521,GARD:0010955,,Rare endocrine disease +GARD:0016357,GARD:0022527,GARD:0010955,,Rare circulatory system disease +GARD:0016357,GARD:0022535,GARD:0010955,,Rare neoplastic disease +GARD:0016357,GARD:0022519,GARD:0010955,,Rare surgical cardiac disease +GARD:0016357,GARD:0022524,GARD:0010955,,Rare neurologic disease +GARD:0016357,GARD:0022510,GARD:0010955,,Rare skin disease +GARD:0016357,GARD:0022512,GARD:0010955,,Rare renal disease +GARD:0016357,GARD:0022511,GARD:0010955,,Rare bone disease +GARD:0016358,GARD:0022511,GARD:0006124,,Rare bone disease +GARD:0016358,GARD:0022524,GARD:0006124,,Rare neurologic disease +GARD:0016358,GARD:0022513,GARD:0006124,,Rare developmental defect during embryogenesis +GARD:0016358,GARD:0022531,GARD:0006124,,Rare genetic disease +GARD:0016359,GARD:0022524,GARD:0000634,,Rare neurologic disease +GARD:0016359,GARD:0022531,GARD:0000634,,Rare genetic disease +GARD:0016359,GARD:0022520,GARD:0000634,,Rare ophthalmic disorder +GARD:0016360,GARD:0022531,GARD:0008686,,Rare genetic disease +GARD:0016360,GARD:0022536,GARD:0008686,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016360,GARD:0022535,GARD:0008686,,Rare neoplastic disease +GARD:0016360,GARD:0022522,GARD:0008686,,Rare hematologic disease +GARD:0016360,GARD:0022523,GARD:0008686,,Rare immune disease +GARD:0016361,GARD:0022510,GARD:0002057,,Rare skin disease +GARD:0016361,GARD:0022526,GARD:0002057,,Rare odontologic disease +GARD:0016361,GARD:0022531,GARD:0002057,,Rare genetic disease +GARD:0016361,GARD:0022520,GARD:0002057,,Rare ophthalmic disorder +GARD:0016361,GARD:0022513,GARD:0002057,,Rare developmental defect during embryogenesis +GARD:0016362,GARD:0022524,GARD:0012109,,Rare neurologic disease +GARD:0016362,GARD:0022513,GARD:0012109,,Rare developmental defect during embryogenesis +GARD:0016362,GARD:0022510,GARD:0012109,,Rare skin disease +GARD:0016362,GARD:0022531,GARD:0012109,,Rare genetic disease +GARD:0016362,GARD:0022529,GARD:0012109,,Rare infertility +GARD:0016362,GARD:0022520,GARD:0012109,,Rare ophthalmic disorder +GARD:0016363,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0016363,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0016364,GARD:0022520,GARD:0010790,,Rare ophthalmic disorder +GARD:0016364,GARD:0022531,GARD:0010790,,Rare genetic disease +GARD:0016365,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016365,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016366,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016366,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016367,GARD:0022524,GARD:0002169,,Rare neurologic disease +GARD:0016367,GARD:0022531,GARD:0002169,,Rare genetic disease +GARD:0016368,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016368,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016368,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016369,GARD:0022527,GARD:0010955,,Rare circulatory system disease +GARD:0016369,GARD:0022510,GARD:0010955,,Rare skin disease +GARD:0016369,GARD:0022511,GARD:0010955,,Rare bone disease +GARD:0016369,GARD:0022515,GARD:0010955,,Rare cardiac disease +GARD:0016369,GARD:0022529,GARD:0010955,,Rare infertility +GARD:0016369,GARD:0022531,GARD:0010955,,Rare genetic disease +GARD:0016369,GARD:0022520,GARD:0010955,,Rare ophthalmic disorder +GARD:0016369,GARD:0022524,GARD:0010955,,Rare neurologic disease +GARD:0016369,GARD:0022513,GARD:0010955,,Rare developmental defect during embryogenesis +GARD:0016369,GARD:0022521,GARD:0010955,,Rare endocrine disease +GARD:0016369,GARD:0022512,GARD:0010955,,Rare renal disease +GARD:0016369,GARD:0022519,GARD:0010955,,Rare surgical cardiac disease +GARD:0016369,GARD:0022535,GARD:0010955,,Rare neoplastic disease +GARD:0016369,GARD:0022536,GARD:0010955,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016370,GARD:0022520,GARD:0005435,,Rare ophthalmic disorder +GARD:0016370,GARD:0022531,GARD:0005435,,Rare genetic disease +GARD:0016370,GARD:0022513,GARD:0005435,,Rare developmental defect during embryogenesis +GARD:0016370,GARD:0022528,GARD:0005435,,Rare otorhinolaryngologic disease +GARD:0016371,GARD:0022526,GARD:0000385,,Rare odontologic disease +GARD:0016371,GARD:0022513,GARD:0000385,,Rare developmental defect during embryogenesis +GARD:0016371,GARD:0022531,GARD:0000385,,Rare genetic disease +GARD:0016371,GARD:0022524,GARD:0000385,,Rare neurologic disease +GARD:0016372,GARD:0022508,GARD:0007653,,Rare inborn errors of metabolism +GARD:0016372,GARD:0022521,GARD:0007653,,Rare endocrine disease +GARD:0016372,GARD:0022531,GARD:0007653,,Rare genetic disease +GARD:0016373,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0016373,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0016373,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0016374,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016374,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016374,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016375,GARD:0022536,GARD:0009558,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016375,GARD:0022523,GARD:0009558,,Rare immune disease +GARD:0016375,GARD:0022531,GARD:0009558,,Rare genetic disease +GARD:0016376,GARD:0022513,GARD:0004412,,Rare developmental defect during embryogenesis +GARD:0016376,GARD:0022511,GARD:0004412,,Rare bone disease +GARD:0016376,GARD:0022507,GARD:0004412,,Rare maxillo-facial surgical disease +GARD:0016376,GARD:0022528,GARD:0004412,,Rare otorhinolaryngologic disease +GARD:0016376,GARD:0022524,GARD:0004412,,Rare neurologic disease +GARD:0016376,GARD:0022531,GARD:0004412,,Rare genetic disease +GARD:0016376,GARD:0022520,GARD:0004412,,Rare ophthalmic disorder +GARD:0016377,GARD:0022508,GARD:0008295,,Rare inborn errors of metabolism +GARD:0016377,GARD:0022531,GARD:0008295,,Rare genetic disease +GARD:0016378,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016378,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016378,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016379,GARD:0022511,GARD:0006124,,Rare bone disease +GARD:0016379,GARD:0022513,GARD:0006124,,Rare developmental defect during embryogenesis +GARD:0016379,GARD:0022524,GARD:0006124,,Rare neurologic disease +GARD:0016379,GARD:0022531,GARD:0006124,,Rare genetic disease +GARD:0016380,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0016380,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0016380,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0016381,GARD:0022513,GARD:0007878,,Rare developmental defect during embryogenesis +GARD:0016381,GARD:0022511,GARD:0007878,,Rare bone disease +GARD:0016381,GARD:0022524,GARD:0007878,,Rare neurologic disease +GARD:0016381,GARD:0022531,GARD:0007878,,Rare genetic disease +GARD:0016382,GARD:0021079,GARD:0010966,,Rare systemic or rheumatological disease of childhood +GARD:0016382,GARD:0022517,GARD:0010966,,Rare respiratory disease +GARD:0016382,GARD:0022525,GARD:0010966,,Rare systemic or rheumatologic disease +GARD:0016382,GARD:0022536,GARD:0010966,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016383,GARD:0022529,GARD:0004484,,Rare infertility +GARD:0016383,GARD:0022531,GARD:0004484,,Rare genetic disease +GARD:0016383,GARD:0022517,GARD:0004484,,Rare respiratory disease +GARD:0016384,GARD:0022524,GARD:0006406,,Rare neurologic disease +GARD:0016384,GARD:0022531,GARD:0006406,,Rare genetic disease +GARD:0016385,GARD:0022531,GARD:0005694,,Rare genetic disease +GARD:0016385,GARD:0022520,GARD:0005694,,Rare ophthalmic disorder +GARD:0016385,GARD:0022524,GARD:0005694,,Rare neurologic disease +GARD:0016386,GARD:0022510,GARD:0000612,,Rare skin disease +GARD:0016386,GARD:0022531,GARD:0000612,,Rare genetic disease +GARD:0016386,GARD:0022524,GARD:0000612,,Rare neurologic disease +GARD:0016387,GARD:0022514,GARD:0010771,,Rare gynecologic or obstetric disease +GARD:0016387,GARD:0022521,GARD:0010771,,Rare endocrine disease +GARD:0016387,GARD:0022531,GARD:0010771,,Rare genetic disease +GARD:0016387,GARD:0022529,GARD:0010771,,Rare infertility +GARD:0016388,GARD:0022531,GARD:0010457,,Rare genetic disease +GARD:0016388,GARD:0022521,GARD:0010457,,Rare endocrine disease +GARD:0016389,GARD:0022531,GARD:0010457,,Rare genetic disease +GARD:0016389,GARD:0022521,GARD:0010457,,Rare endocrine disease +GARD:0016390,GARD:0022521,GARD:0010457,,Rare endocrine disease +GARD:0016390,GARD:0022531,GARD:0010457,,Rare genetic disease +GARD:0016391,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016391,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016392,GARD:0022536,GARD:0009118,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016392,GARD:0022531,GARD:0009118,,Rare genetic disease +GARD:0016392,GARD:0022512,GARD:0009118,,Rare renal disease +GARD:0016393,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016393,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016394,GARD:0022531,GARD:0012724,,Rare genetic disease +GARD:0016394,GARD:0022524,GARD:0012724,,Rare neurologic disease +GARD:0016394,GARD:0022513,GARD:0012724,,Rare developmental defect during embryogenesis +GARD:0016395,GARD:0022516,GARD:0006100,,Rare gastroenterologic disease +GARD:0016395,GARD:0022510,GARD:0006100,,Rare skin disease +GARD:0016395,GARD:0022523,GARD:0006100,,Rare immune disease +GARD:0016395,GARD:0022517,GARD:0006100,,Rare respiratory disease +GARD:0016395,GARD:0022536,GARD:0006100,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016395,GARD:0022531,GARD:0006100,,Rare genetic disease +GARD:0016395,GARD:0022520,GARD:0006100,,Rare ophthalmic disorder +GARD:0016396,GARD:0022520,GARD:0009124,,Rare ophthalmic disorder +GARD:0016396,GARD:0022528,GARD:0009124,,Rare otorhinolaryngologic disease +GARD:0016396,GARD:0022531,GARD:0009124,,Rare genetic disease +GARD:0016396,GARD:0022513,GARD:0009124,,Rare developmental defect during embryogenesis +GARD:0016396,GARD:0022511,GARD:0009124,,Rare bone disease +GARD:0016396,GARD:0022507,GARD:0009124,,Rare maxillo-facial surgical disease +GARD:0016397,GARD:0022531,GARD:0012592,,Rare genetic disease +GARD:0016397,GARD:0022513,GARD:0012592,,Rare developmental defect during embryogenesis +GARD:0016397,GARD:0022520,GARD:0012592,,Rare ophthalmic disorder +GARD:0016397,GARD:0022524,GARD:0012592,,Rare neurologic disease +GARD:0016398,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016398,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016399,GARD:0022531,GARD:0009890,,Rare genetic disease +GARD:0016399,GARD:0022508,GARD:0009890,,Rare inborn errors of metabolism +GARD:0016399,GARD:0022520,GARD:0009890,,Rare ophthalmic disorder +GARD:0016400,GARD:0022531,GARD:0006589,,Rare genetic disease +GARD:0016400,GARD:0022536,GARD:0006589,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016400,GARD:0022524,GARD:0006589,,Rare neurologic disease +GARD:0016400,GARD:0022523,GARD:0006589,,Rare immune disease +GARD:0016401,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016401,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016401,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016402,GARD:0022510,GARD:0002952,,Rare skin disease +GARD:0016402,GARD:0022531,GARD:0002952,,Rare genetic disease +GARD:0016402,GARD:0022513,GARD:0002952,,Rare developmental defect during embryogenesis +GARD:0016403,GARD:0022524,GARD:0010294,,Rare neurologic disease +GARD:0016403,GARD:0022531,GARD:0010294,,Rare genetic disease +GARD:0016403,GARD:0022508,GARD:0010294,,Rare inborn errors of metabolism +GARD:0016404,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016404,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016405,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016405,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016406,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016406,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016407,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016407,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016408,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016408,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016409,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016409,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016410,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016410,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016411,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016411,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016412,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016412,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016413,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016413,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016414,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016414,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016415,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016415,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016416,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016416,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016417,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016417,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016418,GARD:0022520,GARD:0008370,,Rare ophthalmic disorder +GARD:0016418,GARD:0022508,GARD:0008370,,Rare inborn errors of metabolism +GARD:0016418,GARD:0022531,GARD:0008370,,Rare genetic disease +GARD:0016418,GARD:0022524,GARD:0008370,,Rare neurologic disease +GARD:0016419,GARD:0022531,GARD:0010955,,Rare genetic disease +GARD:0016419,GARD:0022524,GARD:0010955,,Rare neurologic disease +GARD:0016419,GARD:0022513,GARD:0010955,,Rare developmental defect during embryogenesis +GARD:0016419,GARD:0022512,GARD:0010955,,Rare renal disease +GARD:0016419,GARD:0022519,GARD:0010955,,Rare surgical cardiac disease +GARD:0016419,GARD:0022521,GARD:0010955,,Rare endocrine disease +GARD:0016419,GARD:0022536,GARD:0010955,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016419,GARD:0022510,GARD:0010955,,Rare skin disease +GARD:0016419,GARD:0022520,GARD:0010955,,Rare ophthalmic disorder +GARD:0016419,GARD:0022515,GARD:0010955,,Rare cardiac disease +GARD:0016419,GARD:0022511,GARD:0010955,,Rare bone disease +GARD:0016419,GARD:0022529,GARD:0010955,,Rare infertility +GARD:0016419,GARD:0022527,GARD:0010955,,Rare circulatory system disease +GARD:0016419,GARD:0022535,GARD:0010955,,Rare neoplastic disease +GARD:0016420,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0016420,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0016421,GARD:0022513,GARD:0000787,,Rare developmental defect during embryogenesis +GARD:0016421,GARD:0022524,GARD:0000787,,Rare neurologic disease +GARD:0016421,GARD:0022531,GARD:0000787,,Rare genetic disease +GARD:0016422,GARD:0022524,GARD:0001410,,Rare neurologic disease +GARD:0016422,GARD:0022506,GARD:0001410,,Rare hepatic disease +GARD:0016422,GARD:0022520,GARD:0001410,,Rare ophthalmic disorder +GARD:0016422,GARD:0022531,GARD:0001410,,Rare genetic disease +GARD:0016422,GARD:0022513,GARD:0001410,,Rare developmental defect during embryogenesis +GARD:0016423,GARD:0022531,GARD:0001410,,Rare genetic disease +GARD:0016423,GARD:0022506,GARD:0001410,,Rare hepatic disease +GARD:0016423,GARD:0022520,GARD:0001410,,Rare ophthalmic disorder +GARD:0016423,GARD:0022513,GARD:0001410,,Rare developmental defect during embryogenesis +GARD:0016423,GARD:0022524,GARD:0001410,,Rare neurologic disease +GARD:0016424,GARD:0022531,GARD:0015028,,Rare genetic disease +GARD:0016424,GARD:0022524,GARD:0015028,,Rare neurologic disease +GARD:0016425,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0016425,GARD:0022531,GARD:0017273,,Rare genetic disease +GARD:0016425,GARD:0022524,GARD:0017273,,Rare neurologic disease +GARD:0016426,GARD:0022524,GARD:0005666,,Rare neurologic disease +GARD:0016426,GARD:0022513,GARD:0005666,,Rare developmental defect during embryogenesis +GARD:0016426,GARD:0022531,GARD:0005666,,Rare genetic disease +GARD:0016427,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0016427,GARD:0022524,GARD:0017273,,Rare neurologic disease +GARD:0016427,GARD:0022531,GARD:0017273,,Rare genetic disease +GARD:0016428,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0016428,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016428,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0016429,GARD:0022524,GARD:0005053,,Rare neurologic disease +GARD:0016429,GARD:0022531,GARD:0005053,,Rare genetic disease +GARD:0016429,GARD:0022508,GARD:0005053,,Rare inborn errors of metabolism +GARD:0016430,GARD:0022508,GARD:0005053,,Rare inborn errors of metabolism +GARD:0016430,GARD:0022524,GARD:0005053,,Rare neurologic disease +GARD:0016430,GARD:0022531,GARD:0005053,,Rare genetic disease +GARD:0016431,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016431,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016431,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016432,GARD:0022524,GARD:0003605,,Rare neurologic disease +GARD:0016432,GARD:0022513,GARD:0003605,,Rare developmental defect during embryogenesis +GARD:0016432,GARD:0022531,GARD:0003605,,Rare genetic disease +GARD:0016433,GARD:0022513,GARD:0003605,,Rare developmental defect during embryogenesis +GARD:0016433,GARD:0022531,GARD:0003605,,Rare genetic disease +GARD:0016433,GARD:0022524,GARD:0003605,,Rare neurologic disease +GARD:0016434,GARD:0022513,GARD:0006802,,Rare developmental defect during embryogenesis +GARD:0016434,GARD:0022520,GARD:0006802,,Rare ophthalmic disorder +GARD:0016434,GARD:0022524,GARD:0006802,,Rare neurologic disease +GARD:0016434,GARD:0022531,GARD:0006802,,Rare genetic disease +GARD:0016435,GARD:0022531,GARD:0003946,,Rare genetic disease +GARD:0016435,GARD:0022536,GARD:0003946,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016435,GARD:0022512,GARD:0003946,,Rare renal disease +GARD:0016436,GARD:0022529,GARD:0008530,,Rare infertility +GARD:0016436,GARD:0022531,GARD:0008530,,Rare genetic disease +GARD:0016437,GARD:0022531,GARD:0004075,,Rare genetic disease +GARD:0016437,GARD:0022510,GARD:0004075,,Rare skin disease +GARD:0016438,GARD:0022508,GARD:0005053,,Rare inborn errors of metabolism +GARD:0016438,GARD:0022531,GARD:0005053,,Rare genetic disease +GARD:0016438,GARD:0022524,GARD:0005053,,Rare neurologic disease +GARD:0016439,GARD:0022522,GARD:0002478,,Rare hematologic disease +GARD:0016439,GARD:0022531,GARD:0002478,,Rare genetic disease +GARD:0016440,GARD:0022508,GARD:0003908,,Rare inborn errors of metabolism +GARD:0016440,GARD:0022524,GARD:0003908,,Rare neurologic disease +GARD:0016440,GARD:0022531,GARD:0003908,,Rare genetic disease +GARD:0016441,GARD:0022513,GARD:0010704,,Rare developmental defect during embryogenesis +GARD:0016441,GARD:0022524,GARD:0010704,,Rare neurologic disease +GARD:0016441,GARD:0022531,GARD:0010704,,Rare genetic disease +GARD:0016442,GARD:0022513,GARD:0010704,,Rare developmental defect during embryogenesis +GARD:0016442,GARD:0022524,GARD:0010704,,Rare neurologic disease +GARD:0016442,GARD:0022531,GARD:0010704,,Rare genetic disease +GARD:0016443,GARD:0022513,GARD:0006124,,Rare developmental defect during embryogenesis +GARD:0016443,GARD:0022524,GARD:0006124,,Rare neurologic disease +GARD:0016443,GARD:0022511,GARD:0006124,,Rare bone disease +GARD:0016443,GARD:0022531,GARD:0006124,,Rare genetic disease +GARD:0016444,GARD:0022513,GARD:0004436,,Rare developmental defect during embryogenesis +GARD:0016444,GARD:0022520,GARD:0004436,,Rare ophthalmic disorder +GARD:0016444,GARD:0022507,GARD:0004436,,Rare maxillo-facial surgical disease +GARD:0016444,GARD:0022528,GARD:0004436,,Rare otorhinolaryngologic disease +GARD:0016444,GARD:0022510,GARD:0004436,,Rare skin disease +GARD:0016444,GARD:0022531,GARD:0004436,,Rare genetic disease +GARD:0016445,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0016445,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0016446,GARD:0022531,GARD:0003443,,Rare genetic disease +GARD:0016446,GARD:0022536,GARD:0003443,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016446,GARD:0022516,GARD:0003443,,Rare gastroenterologic disease +GARD:0016447,GARD:0022513,GARD:0003442,,Rare developmental defect during embryogenesis +GARD:0016447,GARD:0022536,GARD:0003442,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016447,GARD:0022516,GARD:0003442,,Rare gastroenterologic disease +GARD:0016447,GARD:0022512,GARD:0003442,,Rare renal disease +GARD:0016447,GARD:0022531,GARD:0003442,,Rare genetic disease +GARD:0016448,GARD:0022531,GARD:0000048,,Rare genetic disease +GARD:0016448,GARD:0022508,GARD:0000048,,Rare inborn errors of metabolism +GARD:0016449,GARD:0022520,GARD:0011897,,Rare ophthalmic disorder +GARD:0016449,GARD:0022531,GARD:0011897,,Rare genetic disease +GARD:0016450,GARD:0022516,GARD:0006202,,Rare gastroenterologic disease +GARD:0016450,GARD:0022531,GARD:0006202,,Rare genetic disease +GARD:0016450,GARD:0022535,GARD:0006202,,Rare neoplastic disease +GARD:0016450,GARD:0022536,GARD:0006202,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016450,GARD:0022510,GARD:0006202,,Rare skin disease +GARD:0016450,GARD:0022513,GARD:0006202,,Rare developmental defect during embryogenesis +GARD:0016451,GARD:0022511,GARD:0001818,,Rare bone disease +GARD:0016451,GARD:0022513,GARD:0001818,,Rare developmental defect during embryogenesis +GARD:0016451,GARD:0022531,GARD:0001818,,Rare genetic disease +GARD:0016451,GARD:0022520,GARD:0001818,,Rare ophthalmic disorder +GARD:0016452,GARD:0022520,GARD:0017130,,Rare ophthalmic disorder +GARD:0016452,GARD:0022531,GARD:0007910,,Rare genetic disease +GARD:0016452,GARD:0022510,GARD:0007910,,Rare skin disease +GARD:0016452,GARD:0022513,GARD:0007910,,Rare developmental defect during embryogenesis +GARD:0016452,GARD:0022535,GARD:0007910,,Rare neoplastic disease +GARD:0016452,GARD:0022531,GARD:0017130,,Rare genetic disease +GARD:0016452,GARD:0022528,GARD:0017130,,Rare otorhinolaryngologic disease +GARD:0016452,GARD:0022524,GARD:0007910,,Rare neurologic disease +GARD:0016452,GARD:0022510,GARD:0017130,,Rare skin disease +GARD:0016452,GARD:0022513,GARD:0017130,,Rare developmental defect during embryogenesis +GARD:0016452,GARD:0022524,GARD:0017130,,Rare neurologic disease +GARD:0016452,GARD:0022535,GARD:0017130,,Rare neoplastic disease +GARD:0016452,GARD:0022520,GARD:0007910,,Rare ophthalmic disorder +GARD:0016453,GARD:0022510,GARD:0007220,,Rare skin disease +GARD:0016453,GARD:0022531,GARD:0007220,,Rare genetic disease +GARD:0016453,GARD:0022527,GARD:0007220,,Rare circulatory system disease +GARD:0016453,GARD:0022513,GARD:0007220,,Rare developmental defect during embryogenesis +GARD:0016454,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016454,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016455,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016455,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016456,GARD:0022513,GARD:0007220,,Rare developmental defect during embryogenesis +GARD:0016456,GARD:0022510,GARD:0007220,,Rare skin disease +GARD:0016456,GARD:0022531,GARD:0007220,,Rare genetic disease +GARD:0016456,GARD:0022527,GARD:0007220,,Rare circulatory system disease +GARD:0016457,GARD:0022520,GARD:0010803,,Rare ophthalmic disorder +GARD:0016457,GARD:0022531,GARD:0010803,,Rare genetic disease +GARD:0016457,GARD:0022510,GARD:0010803,,Rare skin disease +GARD:0016457,GARD:0022513,GARD:0010803,,Rare developmental defect during embryogenesis +GARD:0016458,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016458,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016459,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016459,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016460,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016460,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016461,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016461,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016462,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016462,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016463,GARD:0022531,GARD:0006202,,Rare genetic disease +GARD:0016463,GARD:0022510,GARD:0006202,,Rare skin disease +GARD:0016463,GARD:0022536,GARD:0006202,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016463,GARD:0022516,GARD:0006202,,Rare gastroenterologic disease +GARD:0016463,GARD:0022535,GARD:0006202,,Rare neoplastic disease +GARD:0016463,GARD:0022513,GARD:0006202,,Rare developmental defect during embryogenesis +GARD:0016464,GARD:0022536,GARD:0006202,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016464,GARD:0022535,GARD:0006202,,Rare neoplastic disease +GARD:0016464,GARD:0022513,GARD:0006202,,Rare developmental defect during embryogenesis +GARD:0016464,GARD:0022531,GARD:0006202,,Rare genetic disease +GARD:0016464,GARD:0022516,GARD:0006202,,Rare gastroenterologic disease +GARD:0016464,GARD:0022510,GARD:0006202,,Rare skin disease +GARD:0016465,GARD:0022531,GARD:0006202,,Rare genetic disease +GARD:0016465,GARD:0022536,GARD:0006202,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016465,GARD:0022510,GARD:0006202,,Rare skin disease +GARD:0016465,GARD:0022516,GARD:0006202,,Rare gastroenterologic disease +GARD:0016465,GARD:0022513,GARD:0006202,,Rare developmental defect during embryogenesis +GARD:0016465,GARD:0022535,GARD:0006202,,Rare neoplastic disease +GARD:0016466,GARD:0022520,GARD:0001818,,Rare ophthalmic disorder +GARD:0016466,GARD:0022513,GARD:0001818,,Rare developmental defect during embryogenesis +GARD:0016466,GARD:0022531,GARD:0001818,,Rare genetic disease +GARD:0016466,GARD:0022511,GARD:0001818,,Rare bone disease +GARD:0016467,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016467,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016468,GARD:0022510,GARD:0007220,,Rare skin disease +GARD:0016468,GARD:0022531,GARD:0007220,,Rare genetic disease +GARD:0016468,GARD:0022513,GARD:0007220,,Rare developmental defect during embryogenesis +GARD:0016468,GARD:0022527,GARD:0007220,,Rare circulatory system disease +GARD:0016469,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016469,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016470,GARD:0022516,GARD:0006202,,Rare gastroenterologic disease +GARD:0016470,GARD:0022531,GARD:0006202,,Rare genetic disease +GARD:0016470,GARD:0022513,GARD:0006202,,Rare developmental defect during embryogenesis +GARD:0016470,GARD:0022536,GARD:0006202,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016470,GARD:0022510,GARD:0006202,,Rare skin disease +GARD:0016470,GARD:0022535,GARD:0006202,,Rare neoplastic disease +GARD:0016471,GARD:0022520,GARD:0010803,,Rare ophthalmic disorder +GARD:0016471,GARD:0022510,GARD:0010803,,Rare skin disease +GARD:0016471,GARD:0022513,GARD:0010803,,Rare developmental defect during embryogenesis +GARD:0016471,GARD:0022531,GARD:0010803,,Rare genetic disease +GARD:0016472,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016472,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016473,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016473,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016474,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016474,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016475,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016475,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016476,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016476,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016477,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016477,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016478,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0016478,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0016479,GARD:0022531,GARD:0004503,,Rare genetic disease +GARD:0016479,GARD:0022508,GARD:0020755,,Rare inborn errors of metabolism +GARD:0016479,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0016479,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0016479,GARD:0022531,GARD:0020755,,Rare genetic disease +GARD:0016479,GARD:0022520,GARD:0004503,,Rare ophthalmic disorder +GARD:0016479,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0016479,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0016479,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0016479,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0016479,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0016480,GARD:0022520,GARD:0022097,GARD:0009633,Rare ophthalmic disorder +GARD:0016480,GARD:0022520,GARD:0022096,GARD:0010511,Rare ophthalmic disorder +GARD:0016480,GARD:0022531,GARD:0022097,GARD:0009633,Rare genetic disease +GARD:0016480,GARD:0022531,GARD:0022097,GARD:0010511,Rare genetic disease +GARD:0016480,GARD:0022520,GARD:0022096,GARD:0009633,Rare ophthalmic disorder +GARD:0016480,GARD:0022531,GARD:0022096,GARD:0010511,Rare genetic disease +GARD:0016480,GARD:0022520,GARD:0022097,GARD:0010511,Rare ophthalmic disorder +GARD:0016480,GARD:0022531,GARD:0022096,GARD:0009633,Rare genetic disease +GARD:0016481,GARD:0022508,GARD:0018951,,Rare inborn errors of metabolism +GARD:0016481,GARD:0022531,GARD:0018951,,Rare genetic disease +GARD:0016482,GARD:0022520,GARD:0016484,GARD:0003026,Rare ophthalmic disorder +GARD:0016482,GARD:0022520,GARD:0016484,GARD:0002978,Rare ophthalmic disorder +GARD:0016482,GARD:0022513,GARD:0016484,GARD:0002978,Rare developmental defect during embryogenesis +GARD:0016482,GARD:0022531,GARD:0016484,GARD:0009626,Rare genetic disease +GARD:0016482,GARD:0022531,GARD:0016484,GARD:0002978,Rare genetic disease +GARD:0016482,GARD:0022520,GARD:0016484,GARD:0009626,Rare ophthalmic disorder +GARD:0016482,GARD:0022531,GARD:0016484,GARD:0003026,Rare genetic disease +GARD:0016482,GARD:0022513,GARD:0016484,GARD:0009626,Rare developmental defect during embryogenesis +GARD:0016482,GARD:0022513,GARD:0016484,GARD:0003026,Rare developmental defect during embryogenesis +GARD:0016483,GARD:0022506,GARD:0017820,,Rare hepatic disease +GARD:0016483,GARD:0022531,GARD:0017820,,Rare genetic disease +GARD:0016484,GARD:0022520,GARD:0019522,GARD:0019169,Rare ophthalmic disorder +GARD:0016484,GARD:0022520,GARD:0019522,GARD:0016482,Rare ophthalmic disorder +GARD:0016484,GARD:0022520,GARD:0010025,GARD:0003635,Rare ophthalmic disorder +GARD:0016484,GARD:0022513,GARD:0010025,GARD:0001434,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022513,GARD:0010025,GARD:0017888,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022520,GARD:0019522,GARD:0003635,Rare ophthalmic disorder +GARD:0016484,GARD:0022520,GARD:0019522,GARD:0016485,Rare ophthalmic disorder +GARD:0016484,GARD:0022520,GARD:0019522,GARD:0018897,Rare ophthalmic disorder +GARD:0016484,GARD:0022520,GARD:0019522,GARD:0022125,Rare ophthalmic disorder +GARD:0016484,GARD:0022520,GARD:0010025,GARD:0007377,Rare ophthalmic disorder +GARD:0016484,GARD:0022531,GARD:0022189,GARD:0016485,Rare genetic disease +GARD:0016484,GARD:0022520,GARD:0019522,GARD:0017954,Rare ophthalmic disorder +GARD:0016484,GARD:0022520,GARD:0010025,GARD:0016485,Rare ophthalmic disorder +GARD:0016484,GARD:0022513,GARD:0019522,GARD:0016482,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022520,GARD:0010025,GARD:0018897,Rare ophthalmic disorder +GARD:0016484,GARD:0022513,GARD:0010025,GARD:0016482,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022513,GARD:0019522,GARD:0018897,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022520,GARD:0010025,GARD:0019169,Rare ophthalmic disorder +GARD:0016484,GARD:0022513,GARD:0010025,GARD:0016485,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022520,GARD:0010025,GARD:0005816,Rare ophthalmic disorder +GARD:0016484,GARD:0022531,GARD:0022189,GARD:0018897,Rare genetic disease +GARD:0016484,GARD:0022531,GARD:0022167,GARD:0017888,Rare genetic disease +GARD:0016484,GARD:0022531,GARD:0022167,GARD:0018897,Rare genetic disease +GARD:0016484,GARD:0022513,GARD:0010025,GARD:0022125,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022520,GARD:0010025,GARD:0017954,Rare ophthalmic disorder +GARD:0016484,GARD:0022513,GARD:0019522,GARD:0016485,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022531,GARD:0022189,GARD:0007377,Rare genetic disease +GARD:0016484,GARD:0022531,GARD:0022167,GARD:0016482,Rare genetic disease +GARD:0016484,GARD:0022531,GARD:0022167,GARD:0003635,Rare genetic disease +GARD:0016484,GARD:0022513,GARD:0019522,GARD:0003635,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022520,GARD:0010025,GARD:0022125,Rare ophthalmic disorder +GARD:0016484,GARD:0022520,GARD:0019522,GARD:0017888,Rare ophthalmic disorder +GARD:0016484,GARD:0022513,GARD:0019522,GARD:0001434,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022513,GARD:0010025,GARD:0003635,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022513,GARD:0019522,GARD:0007377,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022513,GARD:0010025,GARD:0018897,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022513,GARD:0019522,GARD:0017888,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022513,GARD:0019522,GARD:0019169,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022531,GARD:0022189,GARD:0019169,Rare genetic disease +GARD:0016484,GARD:0022513,GARD:0019522,GARD:0017954,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022513,GARD:0010025,GARD:0019169,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022520,GARD:0010025,GARD:0001434,Rare ophthalmic disorder +GARD:0016484,GARD:0022531,GARD:0022167,GARD:0007377,Rare genetic disease +GARD:0016484,GARD:0022513,GARD:0010025,GARD:0005816,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022520,GARD:0019522,GARD:0005816,Rare ophthalmic disorder +GARD:0016484,GARD:0022531,GARD:0022167,GARD:0017954,Rare genetic disease +GARD:0016484,GARD:0022520,GARD:0010025,GARD:0017888,Rare ophthalmic disorder +GARD:0016484,GARD:0022520,GARD:0010025,GARD:0016482,Rare ophthalmic disorder +GARD:0016484,GARD:0022531,GARD:0022167,GARD:0005816,Rare genetic disease +GARD:0016484,GARD:0022531,GARD:0022189,GARD:0005816,Rare genetic disease +GARD:0016484,GARD:0022531,GARD:0022189,GARD:0003635,Rare genetic disease +GARD:0016484,GARD:0022513,GARD:0019522,GARD:0005816,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022520,GARD:0019522,GARD:0001434,Rare ophthalmic disorder +GARD:0016484,GARD:0022531,GARD:0022167,GARD:0001434,Rare genetic disease +GARD:0016484,GARD:0022531,GARD:0022189,GARD:0017888,Rare genetic disease +GARD:0016484,GARD:0022513,GARD:0010025,GARD:0017954,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022531,GARD:0022189,GARD:0016482,Rare genetic disease +GARD:0016484,GARD:0022531,GARD:0022189,GARD:0017954,Rare genetic disease +GARD:0016484,GARD:0022531,GARD:0022167,GARD:0016485,Rare genetic disease +GARD:0016484,GARD:0022513,GARD:0019522,GARD:0022125,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022531,GARD:0022167,GARD:0019169,Rare genetic disease +GARD:0016484,GARD:0022513,GARD:0010025,GARD:0007377,Rare developmental defect during embryogenesis +GARD:0016484,GARD:0022520,GARD:0019522,GARD:0007377,Rare ophthalmic disorder +GARD:0016484,GARD:0022531,GARD:0022189,GARD:0001434,Rare genetic disease +GARD:0016485,GARD:0022513,GARD:0016484,GARD:0002978,Rare developmental defect during embryogenesis +GARD:0016485,GARD:0022520,GARD:0016484,GARD:0009626,Rare ophthalmic disorder +GARD:0016485,GARD:0022531,GARD:0016484,GARD:0009626,Rare genetic disease +GARD:0016485,GARD:0022513,GARD:0016484,GARD:0009626,Rare developmental defect during embryogenesis +GARD:0016485,GARD:0022520,GARD:0016484,GARD:0002978,Rare ophthalmic disorder +GARD:0016485,GARD:0022531,GARD:0016484,GARD:0002978,Rare genetic disease +GARD:0016486,GARD:0022531,GARD:0018890,GARD:0016498,Rare genetic disease +GARD:0016486,GARD:0022531,GARD:0018890,GARD:0016500,Rare genetic disease +GARD:0016486,GARD:0022531,GARD:0004503,GARD:0016499,Rare genetic disease +GARD:0016486,GARD:0022508,GARD:0020758,GARD:0016499,Rare inborn errors of metabolism +GARD:0016486,GARD:0022531,GARD:0020758,GARD:0013174,Rare genetic disease +GARD:0016486,GARD:0022520,GARD:0004503,GARD:0016501,Rare ophthalmic disorder +GARD:0016486,GARD:0022520,GARD:0004503,GARD:0016498,Rare ophthalmic disorder +GARD:0016486,GARD:0022520,GARD:0004503,GARD:0016499,Rare ophthalmic disorder +GARD:0016486,GARD:0022508,GARD:0020758,GARD:0016498,Rare inborn errors of metabolism +GARD:0016486,GARD:0022520,GARD:0004503,GARD:0013174,Rare ophthalmic disorder +GARD:0016486,GARD:0022508,GARD:0020758,GARD:0013174,Rare inborn errors of metabolism +GARD:0016486,GARD:0022520,GARD:0004503,GARD:0016500,Rare ophthalmic disorder +GARD:0016486,GARD:0022531,GARD:0020758,GARD:0016500,Rare genetic disease +GARD:0016486,GARD:0022531,GARD:0020758,GARD:0016499,Rare genetic disease +GARD:0016486,GARD:0022508,GARD:0020758,GARD:0016501,Rare inborn errors of metabolism +GARD:0016486,GARD:0022531,GARD:0004503,GARD:0016501,Rare genetic disease +GARD:0016486,GARD:0022531,GARD:0004503,GARD:0016498,Rare genetic disease +GARD:0016486,GARD:0022531,GARD:0018890,GARD:0013174,Rare genetic disease +GARD:0016486,GARD:0022524,GARD:0018890,GARD:0016500,Rare neurologic disease +GARD:0016486,GARD:0022531,GARD:0020758,GARD:0016498,Rare genetic disease +GARD:0016486,GARD:0022531,GARD:0018890,GARD:0016499,Rare genetic disease +GARD:0016486,GARD:0022524,GARD:0018890,GARD:0016499,Rare neurologic disease +GARD:0016486,GARD:0022531,GARD:0020758,GARD:0016501,Rare genetic disease +GARD:0016486,GARD:0022524,GARD:0018890,GARD:0013174,Rare neurologic disease +GARD:0016486,GARD:0022531,GARD:0018890,GARD:0016501,Rare genetic disease +GARD:0016486,GARD:0022524,GARD:0018890,GARD:0016498,Rare neurologic disease +GARD:0016486,GARD:0022508,GARD:0020758,GARD:0016500,Rare inborn errors of metabolism +GARD:0016486,GARD:0022531,GARD:0004503,GARD:0013174,Rare genetic disease +GARD:0016486,GARD:0022524,GARD:0018890,GARD:0016501,Rare neurologic disease +GARD:0016486,GARD:0022531,GARD:0004503,GARD:0016500,Rare genetic disease +GARD:0016487,GARD:0022531,GARD:0017507,,Rare genetic disease +GARD:0016487,GARD:0022512,GARD:0017507,,Rare renal disease +GARD:0016487,GARD:0022536,GARD:0017507,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016489,GARD:0022531,GARD:0021919,,Rare genetic disease +GARD:0016489,GARD:0022523,GARD:0021919,,Rare immune disease +GARD:0016490,GARD:0022520,GARD:0022188,GARD:0002485,Rare ophthalmic disorder +GARD:0016490,GARD:0022531,GARD:0020298,GARD:0002485,Rare genetic disease +GARD:0016490,GARD:0022513,GARD:0016857,GARD:0016883,Rare developmental defect during embryogenesis +GARD:0016490,GARD:0022531,GARD:0002486,GARD:0016883,Rare genetic disease +GARD:0016490,GARD:0022520,GARD:0022188,GARD:0016883,Rare ophthalmic disorder +GARD:0016490,GARD:0022513,GARD:0016857,GARD:0002485,Rare developmental defect during embryogenesis +GARD:0016490,GARD:0022531,GARD:0020298,GARD:0016883,Rare genetic disease +GARD:0016490,GARD:0022531,GARD:0002486,GARD:0002485,Rare genetic disease +GARD:0016491,GARD:0022531,GARD:0009181,,Rare genetic disease +GARD:0016491,GARD:0022527,GARD:0009181,,Rare circulatory system disease +GARD:0016492,GARD:0022531,GARD:0009181,,Rare genetic disease +GARD:0016492,GARD:0022527,GARD:0009181,,Rare circulatory system disease +GARD:0016493,GARD:0022527,GARD:0009181,,Rare circulatory system disease +GARD:0016493,GARD:0022531,GARD:0009181,,Rare genetic disease +GARD:0016494,GARD:0022531,GARD:0009181,,Rare genetic disease +GARD:0016494,GARD:0022527,GARD:0009181,,Rare circulatory system disease +GARD:0016495,GARD:0022518,GARD:0009634,,Rare surgical thoracic disease +GARD:0016495,GARD:0022531,GARD:0009634,,Rare genetic disease +GARD:0016495,GARD:0022513,GARD:0009634,,Rare developmental defect during embryogenesis +GARD:0016495,GARD:0022517,GARD:0009634,,Rare respiratory disease +GARD:0016496,GARD:0022513,GARD:0009634,,Rare developmental defect during embryogenesis +GARD:0016496,GARD:0022517,GARD:0009634,,Rare respiratory disease +GARD:0016496,GARD:0022518,GARD:0009634,,Rare surgical thoracic disease +GARD:0016496,GARD:0022531,GARD:0009634,,Rare genetic disease +GARD:0016497,GARD:0022517,GARD:0009634,,Rare respiratory disease +GARD:0016497,GARD:0022518,GARD:0009634,,Rare surgical thoracic disease +GARD:0016497,GARD:0022513,GARD:0009634,,Rare developmental defect during embryogenesis +GARD:0016497,GARD:0022531,GARD:0009634,,Rare genetic disease +GARD:0016498,GARD:0022531,GARD:0016486,,Rare genetic disease +GARD:0016498,GARD:0022520,GARD:0016486,,Rare ophthalmic disorder +GARD:0016498,GARD:0022508,GARD:0016486,,Rare inborn errors of metabolism +GARD:0016498,GARD:0022524,GARD:0016486,,Rare neurologic disease +GARD:0016499,GARD:0022508,GARD:0016486,,Rare inborn errors of metabolism +GARD:0016499,GARD:0022520,GARD:0016486,,Rare ophthalmic disorder +GARD:0016499,GARD:0022531,GARD:0016486,,Rare genetic disease +GARD:0016499,GARD:0022524,GARD:0016486,,Rare neurologic disease +GARD:0016500,GARD:0022524,GARD:0016486,,Rare neurologic disease +GARD:0016500,GARD:0022508,GARD:0016486,,Rare inborn errors of metabolism +GARD:0016500,GARD:0022531,GARD:0016486,,Rare genetic disease +GARD:0016500,GARD:0022520,GARD:0016486,,Rare ophthalmic disorder +GARD:0016501,GARD:0022524,GARD:0016486,,Rare neurologic disease +GARD:0016501,GARD:0022508,GARD:0016486,,Rare inborn errors of metabolism +GARD:0016501,GARD:0022520,GARD:0016486,,Rare ophthalmic disorder +GARD:0016501,GARD:0022531,GARD:0016486,,Rare genetic disease +GARD:0016502,GARD:0022513,GARD:0004169,,Rare developmental defect during embryogenesis +GARD:0016502,GARD:0022524,GARD:0004169,,Rare neurologic disease +GARD:0016502,GARD:0022531,GARD:0004169,,Rare genetic disease +GARD:0016503,GARD:0022524,GARD:0004169,,Rare neurologic disease +GARD:0016503,GARD:0022531,GARD:0004169,,Rare genetic disease +GARD:0016503,GARD:0022513,GARD:0004169,,Rare developmental defect during embryogenesis +GARD:0016504,GARD:0022531,GARD:0000857,,Rare genetic disease +GARD:0016504,GARD:0022524,GARD:0000857,,Rare neurologic disease +GARD:0016505,GARD:0022531,GARD:0000857,,Rare genetic disease +GARD:0016505,GARD:0022524,GARD:0000857,,Rare neurologic disease +GARD:0016506,GARD:0022531,GARD:0000857,,Rare genetic disease +GARD:0016506,GARD:0022524,GARD:0000857,,Rare neurologic disease +GARD:0016507,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0016507,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0016508,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0016508,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0016509,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0016509,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0016510,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0016510,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0016511,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0016511,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0016512,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0016512,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0016513,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0016513,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0016514,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0016514,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0016515,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0016515,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0016516,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0016516,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0016517,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0016517,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0016518,GARD:0022524,GARD:0012798,,Rare neurologic disease +GARD:0016518,GARD:0022531,GARD:0012798,,Rare genetic disease +GARD:0016519,GARD:0022521,GARD:0010602,,Rare endocrine disease +GARD:0016519,GARD:0022531,GARD:0010602,,Rare genetic disease +GARD:0016519,GARD:0022529,GARD:0010602,,Rare infertility +GARD:0016519,GARD:0022514,GARD:0010602,,Rare gynecologic or obstetric disease +GARD:0016520,GARD:0022521,GARD:0010602,,Rare endocrine disease +GARD:0016520,GARD:0022531,GARD:0010602,,Rare genetic disease +GARD:0016520,GARD:0022514,GARD:0010602,,Rare gynecologic or obstetric disease +GARD:0016520,GARD:0022529,GARD:0010602,,Rare infertility +GARD:0016521,GARD:0022524,GARD:0000857,,Rare neurologic disease +GARD:0016521,GARD:0022531,GARD:0000857,,Rare genetic disease +GARD:0016522,GARD:0022508,GARD:0007837,GARD:0006114,Rare inborn errors of metabolism +GARD:0016522,GARD:0022508,GARD:0007837,GARD:0020661,Rare inborn errors of metabolism +GARD:0016522,GARD:0022531,GARD:0007837,GARD:0006114,Rare genetic disease +GARD:0016522,GARD:0022531,GARD:0007837,GARD:0020661,Rare genetic disease +GARD:0016523,GARD:0022508,GARD:0018973,GARD:0002515,Rare inborn errors of metabolism +GARD:0016523,GARD:0022506,GARD:0019790,GARD:0002515,Rare hepatic disease +GARD:0016523,GARD:0022536,GARD:0022060,GARD:0002515,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016523,GARD:0022531,GARD:0018973,GARD:0002515,Rare genetic disease +GARD:0016523,GARD:0022512,GARD:0019229,GARD:0002515,Rare renal disease +GARD:0016523,GARD:0022531,GARD:0018973,GARD:0007864,Rare genetic disease +GARD:0016523,GARD:0022512,GARD:0019229,GARD:0007864,Rare renal disease +GARD:0016523,GARD:0022531,GARD:0019229,GARD:0007864,Rare genetic disease +GARD:0016523,GARD:0022536,GARD:0022060,GARD:0007864,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016523,GARD:0022531,GARD:0019229,GARD:0002515,Rare genetic disease +GARD:0016523,GARD:0022506,GARD:0019790,GARD:0007864,Rare hepatic disease +GARD:0016523,GARD:0022508,GARD:0018973,GARD:0007864,Rare inborn errors of metabolism +GARD:0016523,GARD:0022531,GARD:0019790,GARD:0002515,Rare genetic disease +GARD:0016523,GARD:0022531,GARD:0019790,GARD:0007864,Rare genetic disease +GARD:0016524,GARD:0022513,GARD:0008416,,Rare developmental defect during embryogenesis +GARD:0016524,GARD:0022531,GARD:0008416,,Rare genetic disease +GARD:0016524,GARD:0022510,GARD:0008416,,Rare skin disease +GARD:0016526,GARD:0022536,GARD:0022060,GARD:0000047,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016526,GARD:0022506,GARD:0019790,GARD:0000047,Rare hepatic disease +GARD:0016526,GARD:0022531,GARD:0021347,GARD:0000047,Rare genetic disease +GARD:0016526,GARD:0022508,GARD:0021347,GARD:0008683,Rare inborn errors of metabolism +GARD:0016526,GARD:0022536,GARD:0022060,GARD:0008683,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016526,GARD:0022506,GARD:0019790,GARD:0008683,Rare hepatic disease +GARD:0016526,GARD:0022531,GARD:0021347,GARD:0008683,Rare genetic disease +GARD:0016526,GARD:0022508,GARD:0021347,GARD:0000047,Rare inborn errors of metabolism +GARD:0016526,GARD:0022531,GARD:0019790,GARD:0000047,Rare genetic disease +GARD:0016526,GARD:0022531,GARD:0019790,GARD:0008683,Rare genetic disease +GARD:0016527,GARD:0022524,GARD:0006513,GARD:0022210,Rare neurologic disease +GARD:0016527,GARD:0022524,GARD:0006513,GARD:0010070,Rare neurologic disease +GARD:0016527,GARD:0022524,GARD:0006513,GARD:0006353,Rare neurologic disease +GARD:0016527,GARD:0022524,GARD:0006513,GARD:0010634,Rare neurologic disease +GARD:0016527,GARD:0022535,GARD:0006513,GARD:0010633,Rare neoplastic disease +GARD:0016527,GARD:0022535,GARD:0006513,GARD:0022210,Rare neoplastic disease +GARD:0016527,GARD:0022535,GARD:0006513,GARD:0006353,Rare neoplastic disease +GARD:0016527,GARD:0022524,GARD:0006513,GARD:0010633,Rare neurologic disease +GARD:0016527,GARD:0022535,GARD:0006513,GARD:0010070,Rare neoplastic disease +GARD:0016527,GARD:0022535,GARD:0006513,GARD:0010634,Rare neoplastic disease +GARD:0016528,GARD:0022531,GARD:0021104,GARD:0018590,Rare genetic disease +GARD:0016528,GARD:0022510,GARD:0021104,GARD:0018589,Rare skin disease +GARD:0016528,GARD:0022531,GARD:0021104,GARD:0018588,Rare genetic disease +GARD:0016528,GARD:0022520,GARD:0019527,GARD:0018589,Rare ophthalmic disorder +GARD:0016528,GARD:0022531,GARD:0010923,GARD:0018588,Rare genetic disease +GARD:0016528,GARD:0022510,GARD:0021104,GARD:0018588,Rare skin disease +GARD:0016528,GARD:0022510,GARD:0010923,GARD:0018590,Rare skin disease +GARD:0016528,GARD:0022531,GARD:0022170,GARD:0018589,Rare genetic disease +GARD:0016528,GARD:0022531,GARD:0022170,GARD:0018590,Rare genetic disease +GARD:0016528,GARD:0022531,GARD:0010923,GARD:0018590,Rare genetic disease +GARD:0016528,GARD:0022520,GARD:0019527,GARD:0018590,Rare ophthalmic disorder +GARD:0016528,GARD:0022531,GARD:0010923,GARD:0018589,Rare genetic disease +GARD:0016528,GARD:0022510,GARD:0021104,GARD:0018590,Rare skin disease +GARD:0016528,GARD:0022510,GARD:0010923,GARD:0018589,Rare skin disease +GARD:0016528,GARD:0022531,GARD:0022170,GARD:0018588,Rare genetic disease +GARD:0016528,GARD:0022520,GARD:0019527,GARD:0018588,Rare ophthalmic disorder +GARD:0016528,GARD:0022531,GARD:0021104,GARD:0018589,Rare genetic disease +GARD:0016528,GARD:0022510,GARD:0010923,GARD:0018588,Rare skin disease +GARD:0016529,GARD:0022522,GARD:0002714,GARD:0019592,Rare hematologic disease +GARD:0016529,GARD:0022535,GARD:0002714,GARD:0019593,Rare neoplastic disease +GARD:0016529,GARD:0022536,GARD:0002714,GARD:0019594,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016529,GARD:0022522,GARD:0002714,GARD:0019593,Rare hematologic disease +GARD:0016529,GARD:0022535,GARD:0002714,GARD:0019594,Rare neoplastic disease +GARD:0016529,GARD:0022536,GARD:0002714,GARD:0019591,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016529,GARD:0022536,GARD:0002714,GARD:0019593,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016529,GARD:0022535,GARD:0002714,GARD:0019591,Rare neoplastic disease +GARD:0016529,GARD:0022536,GARD:0002714,GARD:0019592,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016529,GARD:0022522,GARD:0002714,GARD:0019591,Rare hematologic disease +GARD:0016529,GARD:0022535,GARD:0002714,GARD:0019592,Rare neoplastic disease +GARD:0016529,GARD:0022522,GARD:0002714,GARD:0019594,Rare hematologic disease +GARD:0016530,GARD:0022512,GARD:0019229,GARD:0010738,Rare renal disease +GARD:0016530,GARD:0022531,GARD:0021312,GARD:0010738,Rare genetic disease +GARD:0016530,GARD:0022531,GARD:0021312,GARD:0002836,Rare genetic disease +GARD:0016530,GARD:0022512,GARD:0019229,GARD:0002835,Rare renal disease +GARD:0016530,GARD:0022536,GARD:0022061,GARD:0002836,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016530,GARD:0022531,GARD:0021312,GARD:0002835,Rare genetic disease +GARD:0016530,GARD:0022508,GARD:0021312,GARD:0002836,Rare inborn errors of metabolism +GARD:0016530,GARD:0022531,GARD:0019229,GARD:0010738,Rare genetic disease +GARD:0016530,GARD:0022531,GARD:0019229,GARD:0002836,Rare genetic disease +GARD:0016530,GARD:0022536,GARD:0022061,GARD:0002835,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016530,GARD:0022508,GARD:0021312,GARD:0002835,Rare inborn errors of metabolism +GARD:0016530,GARD:0022512,GARD:0019229,GARD:0002836,Rare renal disease +GARD:0016530,GARD:0022536,GARD:0022061,GARD:0010738,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016530,GARD:0022531,GARD:0019229,GARD:0002835,Rare genetic disease +GARD:0016530,GARD:0022508,GARD:0021312,GARD:0010738,Rare inborn errors of metabolism +GARD:0016531,GARD:0022531,GARD:0020007,GARD:0021025,Rare genetic disease +GARD:0016531,GARD:0022517,GARD:0007501,GARD:0021025,Rare respiratory disease +GARD:0016531,GARD:0022517,GARD:0007501,GARD:0011914,Rare respiratory disease +GARD:0016531,GARD:0022531,GARD:0020007,GARD:0011914,Rare genetic disease +GARD:0016531,GARD:0022536,GARD:0007501,GARD:0011914,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016531,GARD:0022536,GARD:0007501,GARD:0021025,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016532,GARD:0022531,GARD:0020316,GARD:0022243,Rare genetic disease +GARD:0016532,GARD:0022521,GARD:0020228,GARD:0022243,Rare endocrine disease +GARD:0016532,GARD:0022521,GARD:0020228,GARD:0022244,Rare endocrine disease +GARD:0016532,GARD:0022531,GARD:0020316,GARD:0022244,Rare genetic disease +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0015931,Rare genetic disease +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0015931,Rare endocrine disease +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0003071,Rare infertility +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0015928,Rare endocrine disease +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0010772,Rare endocrine disease +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0010774,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0010774,Rare genetic disease +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0015931,Rare infertility +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0000276,Rare infertility +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0015872,Rare endocrine disease +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0000276,Rare endocrine disease +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0010773,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0018600,Rare infertility +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0018601,Rare genetic disease +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0015928,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0010774,Rare endocrine disease +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0010774,Rare infertility +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0018601,Rare infertility +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0015850,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0010773,Rare infertility +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0015857,Rare infertility +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0015851,Rare infertility +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0018601,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0010772,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0010773,Rare endocrine disease +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0003073,Rare endocrine disease +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0015849,Rare genetic disease +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0003073,Rare genetic disease +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0015928,Rare genetic disease +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0015872,Rare infertility +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0003070,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0003071,Rare genetic disease +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0015931,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0015932,Rare infertility +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0015928,Rare infertility +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0015849,Rare endocrine disease +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0015857,Rare endocrine disease +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0003070,Rare infertility +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0010773,Rare genetic disease +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0015872,Rare genetic disease +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0015857,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0003070,Rare endocrine disease +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0002897,Rare infertility +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0010772,Rare genetic disease +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0015850,Rare endocrine disease +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0018600,Rare endocrine disease +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0015932,Rare endocrine disease +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0003070,Rare genetic disease +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0000276,Rare genetic disease +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0015849,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0015851,Rare genetic disease +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0010772,Rare infertility +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0003071,Rare endocrine disease +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0002897,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0015932,Rare genetic disease +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0015849,Rare infertility +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0015850,Rare genetic disease +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0002897,Rare genetic disease +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0015857,Rare genetic disease +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0003073,Rare infertility +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0018600,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0002897,Rare endocrine disease +GARD:0016533,GARD:0022529,GARD:0020643,GARD:0015850,Rare infertility +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0015872,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0015932,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0015851,Rare endocrine disease +GARD:0016533,GARD:0022521,GARD:0020643,GARD:0018601,Rare endocrine disease +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0000276,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0003073,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0003071,Rare gynecologic or obstetric disease +GARD:0016533,GARD:0022531,GARD:0020643,GARD:0018600,Rare genetic disease +GARD:0016533,GARD:0022514,GARD:0020643,GARD:0015851,Rare gynecologic or obstetric disease +GARD:0016534,GARD:0022531,GARD:0019351,GARD:0022431,Rare genetic disease +GARD:0016534,GARD:0022534,GARD:0019351,GARD:0022424,Rare abdominal surgical disease +GARD:0016534,GARD:0022513,GARD:0019351,GARD:0022430,Rare developmental defect during embryogenesis +GARD:0016534,GARD:0022534,GARD:0019351,GARD:0022432,Rare abdominal surgical disease +GARD:0016534,GARD:0022534,GARD:0019351,GARD:0022426,Rare abdominal surgical disease +GARD:0016534,GARD:0022534,GARD:0019351,GARD:0022431,Rare abdominal surgical disease +GARD:0016534,GARD:0022531,GARD:0019351,GARD:0022430,Rare genetic disease +GARD:0016534,GARD:0022531,GARD:0019351,GARD:0022420,Rare genetic disease +GARD:0016534,GARD:0022531,GARD:0019351,GARD:0022433,Rare genetic disease +GARD:0016534,GARD:0022536,GARD:0019351,GARD:0022427,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016534,GARD:0022536,GARD:0019351,GARD:0022429,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016534,GARD:0022536,GARD:0019351,GARD:0022432,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016534,GARD:0022534,GARD:0019351,GARD:0022420,Rare abdominal surgical disease +GARD:0016534,GARD:0022536,GARD:0019351,GARD:0022431,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016534,GARD:0022513,GARD:0019351,GARD:0022428,Rare developmental defect during embryogenesis +GARD:0016534,GARD:0022534,GARD:0019351,GARD:0022428,Rare abdominal surgical disease +GARD:0016534,GARD:0022534,GARD:0019351,GARD:0022430,Rare abdominal surgical disease +GARD:0016534,GARD:0022531,GARD:0019351,GARD:0022428,Rare genetic disease +GARD:0016534,GARD:0022534,GARD:0019351,GARD:0022425,Rare abdominal surgical disease +GARD:0016534,GARD:0022531,GARD:0019351,GARD:0022425,Rare genetic disease +GARD:0016534,GARD:0022513,GARD:0019351,GARD:0022429,Rare developmental defect during embryogenesis +GARD:0016534,GARD:0022513,GARD:0019351,GARD:0022420,Rare developmental defect during embryogenesis +GARD:0016534,GARD:0022534,GARD:0019351,GARD:0022433,Rare abdominal surgical disease +GARD:0016534,GARD:0022513,GARD:0019351,GARD:0022426,Rare developmental defect during embryogenesis +GARD:0016534,GARD:0022531,GARD:0019351,GARD:0022421,Rare genetic disease +GARD:0016534,GARD:0022513,GARD:0019351,GARD:0022427,Rare developmental defect during embryogenesis +GARD:0016534,GARD:0022513,GARD:0019351,GARD:0022421,Rare developmental defect during embryogenesis +GARD:0016534,GARD:0022536,GARD:0019351,GARD:0022421,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016534,GARD:0022536,GARD:0019351,GARD:0022430,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016534,GARD:0022536,GARD:0019351,GARD:0022426,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016534,GARD:0022536,GARD:0019351,GARD:0022424,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016534,GARD:0022513,GARD:0019351,GARD:0022424,Rare developmental defect during embryogenesis +GARD:0016534,GARD:0022513,GARD:0019351,GARD:0022432,Rare developmental defect during embryogenesis +GARD:0016534,GARD:0022531,GARD:0019351,GARD:0022426,Rare genetic disease +GARD:0016534,GARD:0022536,GARD:0019351,GARD:0022433,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016534,GARD:0022536,GARD:0019351,GARD:0022425,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016534,GARD:0022531,GARD:0019351,GARD:0022429,Rare genetic disease +GARD:0016534,GARD:0022531,GARD:0019351,GARD:0022427,Rare genetic disease +GARD:0016534,GARD:0022531,GARD:0019351,GARD:0022424,Rare genetic disease +GARD:0016534,GARD:0022534,GARD:0019351,GARD:0022429,Rare abdominal surgical disease +GARD:0016534,GARD:0022531,GARD:0019351,GARD:0022432,Rare genetic disease +GARD:0016534,GARD:0022513,GARD:0019351,GARD:0022425,Rare developmental defect during embryogenesis +GARD:0016534,GARD:0022513,GARD:0019351,GARD:0022433,Rare developmental defect during embryogenesis +GARD:0016534,GARD:0022534,GARD:0019351,GARD:0022427,Rare abdominal surgical disease +GARD:0016534,GARD:0022513,GARD:0019351,GARD:0022431,Rare developmental defect during embryogenesis +GARD:0016534,GARD:0022536,GARD:0019351,GARD:0022428,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016534,GARD:0022536,GARD:0019351,GARD:0022420,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016534,GARD:0022534,GARD:0019351,GARD:0022421,Rare abdominal surgical disease +GARD:0016535,GARD:0022513,GARD:0022021,GARD:0017318,Rare developmental defect during embryogenesis +GARD:0016535,GARD:0022513,GARD:0022092,GARD:0006975,Rare developmental defect during embryogenesis +GARD:0016535,GARD:0022531,GARD:0022178,GARD:0017318,Rare genetic disease +GARD:0016535,GARD:0022518,GARD:0021130,GARD:0006975,Rare surgical thoracic disease +GARD:0016535,GARD:0022520,GARD:0019517,GARD:0017318,Rare ophthalmic disorder +GARD:0016535,GARD:0022527,GARD:0021130,GARD:0006975,Rare circulatory system disease +GARD:0016535,GARD:0022520,GARD:0022092,GARD:0017318,Rare ophthalmic disorder +GARD:0016535,GARD:0022531,GARD:0022021,GARD:0017318,Rare genetic disease +GARD:0016535,GARD:0022520,GARD:0019517,GARD:0006975,Rare ophthalmic disorder +GARD:0016535,GARD:0022520,GARD:0022092,GARD:0006975,Rare ophthalmic disorder +GARD:0016535,GARD:0022513,GARD:0019905,GARD:0017318,Rare developmental defect during embryogenesis +GARD:0016535,GARD:0022531,GARD:0019905,GARD:0017318,Rare genetic disease +GARD:0016535,GARD:0022531,GARD:0022021,GARD:0006975,Rare genetic disease +GARD:0016535,GARD:0022531,GARD:0022173,GARD:0017318,Rare genetic disease +GARD:0016535,GARD:0022525,GARD:0021129,GARD:0006975,Rare systemic or rheumatologic disease +GARD:0016535,GARD:0022511,GARD:0022021,GARD:0017318,Rare bone disease +GARD:0016535,GARD:0022531,GARD:0021130,GARD:0017318,Rare genetic disease +GARD:0016535,GARD:0022513,GARD:0019905,GARD:0006975,Rare developmental defect during embryogenesis +GARD:0016535,GARD:0022527,GARD:0021130,GARD:0017318,Rare circulatory system disease +GARD:0016535,GARD:0022511,GARD:0022021,GARD:0006975,Rare bone disease +GARD:0016535,GARD:0022525,GARD:0021129,GARD:0017318,Rare systemic or rheumatologic disease +GARD:0016535,GARD:0022531,GARD:0021129,GARD:0006975,Rare genetic disease +GARD:0016535,GARD:0022518,GARD:0021130,GARD:0017318,Rare surgical thoracic disease +GARD:0016535,GARD:0022531,GARD:0021130,GARD:0006975,Rare genetic disease +GARD:0016535,GARD:0022531,GARD:0022173,GARD:0006975,Rare genetic disease +GARD:0016535,GARD:0022513,GARD:0022092,GARD:0017318,Rare developmental defect during embryogenesis +GARD:0016535,GARD:0022531,GARD:0021129,GARD:0017318,Rare genetic disease +GARD:0016535,GARD:0022531,GARD:0019905,GARD:0006975,Rare genetic disease +GARD:0016535,GARD:0022513,GARD:0022021,GARD:0006975,Rare developmental defect during embryogenesis +GARD:0016535,GARD:0022531,GARD:0022178,GARD:0006975,Rare genetic disease +GARD:0016536,GARD:0022531,GARD:0020436,GARD:0013661,Rare genetic disease +GARD:0016536,GARD:0022531,GARD:0020436,GARD:0010316,Rare genetic disease +GARD:0016536,GARD:0022524,GARD:0021937,GARD:0013661,Rare neurologic disease +GARD:0016536,GARD:0022524,GARD:0021937,GARD:0017078,Rare neurologic disease +GARD:0016536,GARD:0022531,GARD:0020436,GARD:0020143,Rare genetic disease +GARD:0016536,GARD:0022524,GARD:0021937,GARD:0020143,Rare neurologic disease +GARD:0016536,GARD:0022531,GARD:0020134,GARD:0017078,Rare genetic disease +GARD:0016536,GARD:0022524,GARD:0020134,GARD:0017078,Rare neurologic disease +GARD:0016536,GARD:0022524,GARD:0020134,GARD:0013661,Rare neurologic disease +GARD:0016536,GARD:0022531,GARD:0020134,GARD:0020143,Rare genetic disease +GARD:0016536,GARD:0022524,GARD:0021937,GARD:0010316,Rare neurologic disease +GARD:0016536,GARD:0022531,GARD:0020436,GARD:0017078,Rare genetic disease +GARD:0016536,GARD:0022524,GARD:0020134,GARD:0010316,Rare neurologic disease +GARD:0016536,GARD:0022531,GARD:0020134,GARD:0010316,Rare genetic disease +GARD:0016536,GARD:0022531,GARD:0020134,GARD:0013661,Rare genetic disease +GARD:0016536,GARD:0022524,GARD:0020134,GARD:0020143,Rare neurologic disease +GARD:0016537,GARD:0022508,GARD:0018951,GARD:0017385,Rare inborn errors of metabolism +GARD:0016537,GARD:0022524,GARD:0018890,GARD:0003576,Rare neurologic disease +GARD:0016537,GARD:0022531,GARD:0018951,GARD:0003577,Rare genetic disease +GARD:0016537,GARD:0022531,GARD:0018951,GARD:0003576,Rare genetic disease +GARD:0016537,GARD:0022531,GARD:0018953,GARD:0003577,Rare genetic disease +GARD:0016537,GARD:0022531,GARD:0018953,GARD:0017385,Rare genetic disease +GARD:0016537,GARD:0022531,GARD:0018951,GARD:0017385,Rare genetic disease +GARD:0016537,GARD:0022531,GARD:0018890,GARD:0017385,Rare genetic disease +GARD:0016537,GARD:0022531,GARD:0018953,GARD:0003576,Rare genetic disease +GARD:0016537,GARD:0022524,GARD:0018890,GARD:0017385,Rare neurologic disease +GARD:0016537,GARD:0022531,GARD:0019462,GARD:0003576,Rare genetic disease +GARD:0016537,GARD:0022508,GARD:0018953,GARD:0003576,Rare inborn errors of metabolism +GARD:0016537,GARD:0022531,GARD:0018890,GARD:0003577,Rare genetic disease +GARD:0016537,GARD:0022508,GARD:0018951,GARD:0003576,Rare inborn errors of metabolism +GARD:0016537,GARD:0022508,GARD:0018953,GARD:0003577,Rare inborn errors of metabolism +GARD:0016537,GARD:0022524,GARD:0018890,GARD:0003577,Rare neurologic disease +GARD:0016537,GARD:0022522,GARD:0019462,GARD:0003577,Rare hematologic disease +GARD:0016537,GARD:0022508,GARD:0018953,GARD:0017385,Rare inborn errors of metabolism +GARD:0016537,GARD:0022531,GARD:0018890,GARD:0003576,Rare genetic disease +GARD:0016537,GARD:0022522,GARD:0019462,GARD:0017385,Rare hematologic disease +GARD:0016537,GARD:0022531,GARD:0019462,GARD:0003577,Rare genetic disease +GARD:0016537,GARD:0022522,GARD:0019462,GARD:0003576,Rare hematologic disease +GARD:0016537,GARD:0022531,GARD:0019462,GARD:0017385,Rare genetic disease +GARD:0016537,GARD:0022508,GARD:0018951,GARD:0003577,Rare inborn errors of metabolism +GARD:0016538,GARD:0022531,GARD:0003921,,Rare genetic disease +GARD:0016538,GARD:0022521,GARD:0003921,,Rare endocrine disease +GARD:0016538,GARD:0022531,GARD:0020596,,Rare genetic disease +GARD:0016538,GARD:0022523,GARD:0020596,,Rare immune disease +GARD:0016539,GARD:0022531,GARD:0018801,GARD:0004011,Rare genetic disease +GARD:0016539,GARD:0022536,GARD:0022061,GARD:0004011,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016539,GARD:0022512,GARD:0019229,GARD:0006450,Rare renal disease +GARD:0016539,GARD:0022531,GARD:0019521,GARD:0004011,Rare genetic disease +GARD:0016539,GARD:0022521,GARD:0018801,GARD:0006450,Rare endocrine disease +GARD:0016539,GARD:0022521,GARD:0018801,GARD:0004011,Rare endocrine disease +GARD:0016539,GARD:0022520,GARD:0019521,GARD:0006450,Rare ophthalmic disorder +GARD:0016539,GARD:0022531,GARD:0019229,GARD:0004011,Rare genetic disease +GARD:0016539,GARD:0022508,GARD:0018801,GARD:0006450,Rare inborn errors of metabolism +GARD:0016539,GARD:0022520,GARD:0019521,GARD:0004011,Rare ophthalmic disorder +GARD:0016539,GARD:0022531,GARD:0019521,GARD:0006450,Rare genetic disease +GARD:0016539,GARD:0022508,GARD:0018801,GARD:0004011,Rare inborn errors of metabolism +GARD:0016539,GARD:0022536,GARD:0022061,GARD:0006450,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016539,GARD:0022512,GARD:0019229,GARD:0004011,Rare renal disease +GARD:0016539,GARD:0022531,GARD:0018801,GARD:0006450,Rare genetic disease +GARD:0016539,GARD:0022531,GARD:0019229,GARD:0006450,Rare genetic disease +GARD:0016540,GARD:0022513,GARD:0019863,GARD:0018586,Rare developmental defect during embryogenesis +GARD:0016540,GARD:0022534,GARD:0019863,GARD:0018587,Rare abdominal surgical disease +GARD:0016540,GARD:0022534,GARD:0019863,GARD:0018586,Rare abdominal surgical disease +GARD:0016540,GARD:0022513,GARD:0019863,GARD:0018587,Rare developmental defect during embryogenesis +GARD:0016541,GARD:0022531,GARD:0019460,,Rare genetic disease +GARD:0016541,GARD:0022531,GARD:0021306,,Rare genetic disease +GARD:0016541,GARD:0022522,GARD:0019460,,Rare hematologic disease +GARD:0016541,GARD:0022508,GARD:0021306,,Rare inborn errors of metabolism +GARD:0016542,GARD:0022510,GARD:0018768,,Rare skin disease +GARD:0016542,GARD:0022531,GARD:0018768,,Rare genetic disease +GARD:0016542,GARD:0022531,GARD:0020264,,Rare genetic disease +GARD:0016542,GARD:0022510,GARD:0018989,,Rare skin disease +GARD:0016543,GARD:0022525,GARD:0020515,GARD:0018568,Rare systemic or rheumatologic disease +GARD:0016543,GARD:0022511,GARD:0020515,GARD:0018569,Rare bone disease +GARD:0016543,GARD:0022531,GARD:0020515,GARD:0018569,Rare genetic disease +GARD:0016543,GARD:0022531,GARD:0020515,GARD:0018568,Rare genetic disease +GARD:0016543,GARD:0022522,GARD:0020515,GARD:0018569,Rare hematologic disease +GARD:0016543,GARD:0022511,GARD:0020515,GARD:0018568,Rare bone disease +GARD:0016543,GARD:0022525,GARD:0020515,GARD:0018569,Rare systemic or rheumatologic disease +GARD:0016543,GARD:0022522,GARD:0020515,GARD:0018568,Rare hematologic disease +GARD:0016544,GARD:0022511,GARD:0020515,GARD:0013041,Rare bone disease +GARD:0016544,GARD:0022522,GARD:0020515,GARD:0013041,Rare hematologic disease +GARD:0016544,GARD:0022525,GARD:0020515,GARD:0013041,Rare systemic or rheumatologic disease +GARD:0016544,GARD:0022531,GARD:0020515,GARD:0018574,Rare genetic disease +GARD:0016544,GARD:0022531,GARD:0020515,GARD:0013041,Rare genetic disease +GARD:0016544,GARD:0022525,GARD:0020515,GARD:0018574,Rare systemic or rheumatologic disease +GARD:0016544,GARD:0022511,GARD:0020515,GARD:0018574,Rare bone disease +GARD:0016544,GARD:0022522,GARD:0020515,GARD:0018574,Rare hematologic disease +GARD:0016545,GARD:0022531,GARD:0020306,GARD:0009145,Rare genetic disease +GARD:0016545,GARD:0022531,GARD:0020306,GARD:0004552,Rare genetic disease +GARD:0016545,GARD:0022512,GARD:0021861,GARD:0004552,Rare renal disease +GARD:0016545,GARD:0022512,GARD:0021861,GARD:0009145,Rare renal disease +GARD:0016546,GARD:0022514,GARD:0021807,GARD:0020120,Rare gynecologic or obstetric disease +GARD:0016546,GARD:0022521,GARD:0007446,GARD:0020120,Rare endocrine disease +GARD:0016546,GARD:0022521,GARD:0007446,GARD:0020119,Rare endocrine disease +GARD:0016546,GARD:0022514,GARD:0021807,GARD:0020119,Rare gynecologic or obstetric disease +GARD:0016547,GARD:0022515,GARD:0019785,GARD:0009294,Rare cardiac disease +GARD:0016547,GARD:0022531,GARD:0019785,GARD:0003284,Rare genetic disease +GARD:0016547,GARD:0022531,GARD:0019785,GARD:0009294,Rare genetic disease +GARD:0016547,GARD:0022515,GARD:0019785,GARD:0003048,Rare cardiac disease +GARD:0016547,GARD:0022531,GARD:0019785,GARD:0003048,Rare genetic disease +GARD:0016547,GARD:0022515,GARD:0019785,GARD:0003284,Rare cardiac disease +GARD:0016548,GARD:0022531,GARD:0020011,,Rare genetic disease +GARD:0016548,GARD:0022514,GARD:0020200,,Rare gynecologic or obstetric disease +GARD:0016548,GARD:0022521,GARD:0022521,,Rare endocrine disease +GARD:0016548,GARD:0022529,GARD:0021678,,Rare infertility +GARD:0016548,GARD:0022531,GARD:0021691,,Rare genetic disease +GARD:0016548,GARD:0022531,GARD:0020341,,Rare genetic disease +GARD:0016549,GARD:0022513,GARD:0022092,GARD:0005062,Rare developmental defect during embryogenesis +GARD:0016549,GARD:0022508,GARD:0018953,GARD:0003705,Rare inborn errors of metabolism +GARD:0016549,GARD:0022531,GARD:0020552,GARD:0005062,Rare genetic disease +GARD:0016549,GARD:0022531,GARD:0018953,GARD:0003705,Rare genetic disease +GARD:0016549,GARD:0022531,GARD:0019900,GARD:0005062,Rare genetic disease +GARD:0016549,GARD:0022508,GARD:0018953,GARD:0005062,Rare inborn errors of metabolism +GARD:0016549,GARD:0022531,GARD:0022173,GARD:0003705,Rare genetic disease +GARD:0016549,GARD:0022520,GARD:0022092,GARD:0005062,Rare ophthalmic disorder +GARD:0016549,GARD:0022524,GARD:0020552,GARD:0003705,Rare neurologic disease +GARD:0016549,GARD:0022513,GARD:0019900,GARD:0005062,Rare developmental defect during embryogenesis +GARD:0016549,GARD:0022524,GARD:0018890,GARD:0005062,Rare neurologic disease +GARD:0016549,GARD:0022531,GARD:0019900,GARD:0003705,Rare genetic disease +GARD:0016549,GARD:0022531,GARD:0020552,GARD:0003705,Rare genetic disease +GARD:0016549,GARD:0022531,GARD:0018890,GARD:0005062,Rare genetic disease +GARD:0016549,GARD:0022531,GARD:0018890,GARD:0003705,Rare genetic disease +GARD:0016549,GARD:0022524,GARD:0020552,GARD:0005062,Rare neurologic disease +GARD:0016549,GARD:0022513,GARD:0022092,GARD:0003705,Rare developmental defect during embryogenesis +GARD:0016549,GARD:0022531,GARD:0022173,GARD:0005062,Rare genetic disease +GARD:0016549,GARD:0022531,GARD:0018953,GARD:0005062,Rare genetic disease +GARD:0016549,GARD:0022524,GARD:0018890,GARD:0003705,Rare neurologic disease +GARD:0016549,GARD:0022520,GARD:0022092,GARD:0003705,Rare ophthalmic disorder +GARD:0016549,GARD:0022513,GARD:0019900,GARD:0003705,Rare developmental defect during embryogenesis +GARD:0016550,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0016550,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0016551,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0016551,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0016552,GARD:0022531,GARD:0021468,,Rare genetic disease +GARD:0016552,GARD:0022531,GARD:0019445,,Rare genetic disease +GARD:0016552,GARD:0022529,GARD:0019445,,Rare infertility +GARD:0016552,GARD:0022521,GARD:0021468,,Rare endocrine disease +GARD:0016552,GARD:0022532,GARD:0021468,,Rare urogenital disease +GARD:0016552,GARD:0022513,GARD:0021468,,Rare developmental defect during embryogenesis +GARD:0016553,GARD:0022531,GARD:0021987,,Rare genetic disease +GARD:0016553,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016553,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016553,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016553,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0016554,GARD:0022531,GARD:0021187,,Rare genetic disease +GARD:0016554,GARD:0022511,GARD:0021187,,Rare bone disease +GARD:0016554,GARD:0022513,GARD:0021187,,Rare developmental defect during embryogenesis +GARD:0016555,GARD:0022531,GARD:0012291,GARD:0016780,Rare genetic disease +GARD:0016555,GARD:0022513,GARD:0020339,GARD:0016780,Rare developmental defect during embryogenesis +GARD:0016555,GARD:0022524,GARD:0020339,GARD:0016780,Rare neurologic disease +GARD:0016555,GARD:0022513,GARD:0012291,GARD:0016780,Rare developmental defect during embryogenesis +GARD:0016555,GARD:0022524,GARD:0012291,GARD:0016780,Rare neurologic disease +GARD:0016555,GARD:0022531,GARD:0021010,GARD:0016780,Rare genetic disease +GARD:0016556,GARD:0022531,GARD:0019563,GARD:0018622,Rare genetic disease +GARD:0016556,GARD:0022524,GARD:0019563,GARD:0009909,Rare neurologic disease +GARD:0016556,GARD:0022524,GARD:0019563,GARD:0016351,Rare neurologic disease +GARD:0016556,GARD:0022531,GARD:0000786,GARD:0016351,Rare genetic disease +GARD:0016556,GARD:0022513,GARD:0000786,GARD:0016351,Rare developmental defect during embryogenesis +GARD:0016556,GARD:0022513,GARD:0000786,GARD:0018622,Rare developmental defect during embryogenesis +GARD:0016556,GARD:0022524,GARD:0019563,GARD:0018622,Rare neurologic disease +GARD:0016556,GARD:0022513,GARD:0000786,GARD:0009909,Rare developmental defect during embryogenesis +GARD:0016556,GARD:0022531,GARD:0000786,GARD:0018622,Rare genetic disease +GARD:0016556,GARD:0022531,GARD:0019563,GARD:0016351,Rare genetic disease +GARD:0016556,GARD:0022531,GARD:0019563,GARD:0009909,Rare genetic disease +GARD:0016556,GARD:0022531,GARD:0000786,GARD:0009909,Rare genetic disease +GARD:0016557,GARD:0022513,GARD:0019972,,Rare developmental defect during embryogenesis +GARD:0016558,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0016558,GARD:0022531,GARD:0020665,,Rare genetic disease +GARD:0016558,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0016558,GARD:0022524,GARD:0020665,,Rare neurologic disease +GARD:0016559,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0016559,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0016560,GARD:0022524,GARD:0021402,,Rare neurologic disease +GARD:0016560,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0016560,GARD:0022531,GARD:0021402,,Rare genetic disease +GARD:0016560,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0016561,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0016561,GARD:0022508,GARD:0021322,,Rare inborn errors of metabolism +GARD:0016561,GARD:0022531,GARD:0021322,,Rare genetic disease +GARD:0016561,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0016562,GARD:0022514,GARD:0020219,,Rare gynecologic or obstetric disease +GARD:0016562,GARD:0022521,GARD:0020219,,Rare endocrine disease +GARD:0016562,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0016562,GARD:0022531,GARD:0020219,,Rare genetic disease +GARD:0016562,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0016562,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0016562,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0016562,GARD:0022529,GARD:0020219,,Rare infertility +GARD:0016562,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0016563,GARD:0022510,GARD:0021301,,Rare skin disease +GARD:0016563,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0016563,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0016563,GARD:0022531,GARD:0021301,,Rare genetic disease +GARD:0016564,GARD:0022515,GARD:0020532,GARD:0018612,Rare cardiac disease +GARD:0016564,GARD:0022531,GARD:0020532,GARD:0018612,Rare genetic disease +GARD:0016564,GARD:0022531,GARD:0019785,GARD:0018612,Rare genetic disease +GARD:0016564,GARD:0022515,GARD:0019785,GARD:0018612,Rare cardiac disease +GARD:0016564,GARD:0022515,GARD:0020532,GARD:0018611,Rare cardiac disease +GARD:0016564,GARD:0022515,GARD:0019785,GARD:0018611,Rare cardiac disease +GARD:0016564,GARD:0022531,GARD:0020532,GARD:0018611,Rare genetic disease +GARD:0016564,GARD:0022531,GARD:0019785,GARD:0018611,Rare genetic disease +GARD:0016565,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0016565,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0016565,GARD:0022511,GARD:0021569,,Rare bone disease +GARD:0016565,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0016565,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0016565,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0016565,GARD:0022531,GARD:0021569,,Rare genetic disease +GARD:0016565,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0016565,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0016565,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0016565,GARD:0022513,GARD:0021569,,Rare developmental defect during embryogenesis +GARD:0016566,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0016566,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0016566,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0016566,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0016566,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0016567,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016567,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016567,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016568,GARD:0022513,GARD:0000312,,Rare developmental defect during embryogenesis +GARD:0016568,GARD:0022524,GARD:0000312,,Rare neurologic disease +GARD:0016568,GARD:0022511,GARD:0000312,,Rare bone disease +GARD:0016568,GARD:0022531,GARD:0000312,,Rare genetic disease +GARD:0016569,GARD:0022508,GARD:0018771,GARD:0018572,Rare inborn errors of metabolism +GARD:0016569,GARD:0022508,GARD:0018771,GARD:0018571,Rare inborn errors of metabolism +GARD:0016569,GARD:0022531,GARD:0018771,GARD:0018572,Rare genetic disease +GARD:0016569,GARD:0022531,GARD:0018771,GARD:0018571,Rare genetic disease +GARD:0016569,GARD:0022531,GARD:0018771,GARD:0018570,Rare genetic disease +GARD:0016569,GARD:0022508,GARD:0018771,GARD:0018570,Rare inborn errors of metabolism +GARD:0016569,GARD:0022531,GARD:0018771,GARD:0018573,Rare genetic disease +GARD:0016569,GARD:0022508,GARD:0018771,GARD:0018573,Rare inborn errors of metabolism +GARD:0016570,GARD:0022520,GARD:0019504,,Rare ophthalmic disorder +GARD:0016570,GARD:0022531,GARD:0019504,,Rare genetic disease +GARD:0016570,GARD:0022513,GARD:0019504,,Rare developmental defect during embryogenesis +GARD:0016570,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0016570,GARD:0022531,GARD:0020832,,Rare genetic disease +GARD:0016570,GARD:0022513,GARD:0020832,,Rare developmental defect during embryogenesis +GARD:0016570,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0016571,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0016571,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0016571,GARD:0022531,GARD:0020832,,Rare genetic disease +GARD:0016571,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0016571,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0016571,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0016571,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016571,GARD:0022513,GARD:0020832,,Rare developmental defect during embryogenesis +GARD:0016572,GARD:0022531,GARD:0020834,,Rare genetic disease +GARD:0016572,GARD:0022513,GARD:0020834,,Rare developmental defect during embryogenesis +GARD:0016573,GARD:0022531,GARD:0020823,,Rare genetic disease +GARD:0016573,GARD:0022513,GARD:0020823,,Rare developmental defect during embryogenesis +GARD:0016574,GARD:0022531,GARD:0019429,GARD:0018504,Rare genetic disease +GARD:0016574,GARD:0022531,GARD:0021675,GARD:0018503,Rare genetic disease +GARD:0016574,GARD:0022529,GARD:0021675,GARD:0018503,Rare infertility +GARD:0016574,GARD:0022529,GARD:0021675,GARD:0018504,Rare infertility +GARD:0016574,GARD:0022513,GARD:0019429,GARD:0018503,Rare developmental defect during embryogenesis +GARD:0016574,GARD:0022531,GARD:0021675,GARD:0018504,Rare genetic disease +GARD:0016574,GARD:0022531,GARD:0019429,GARD:0018503,Rare genetic disease +GARD:0016574,GARD:0022513,GARD:0019429,GARD:0018504,Rare developmental defect during embryogenesis +GARD:0016575,GARD:0022531,GARD:0020094,GARD:0001806,Rare genetic disease +GARD:0016575,GARD:0022531,GARD:0020094,GARD:0001807,Rare genetic disease +GARD:0016575,GARD:0022526,GARD:0020094,GARD:0001806,Rare odontologic disease +GARD:0016575,GARD:0022526,GARD:0020094,GARD:0017433,Rare odontologic disease +GARD:0016575,GARD:0022526,GARD:0020094,GARD:0001807,Rare odontologic disease +GARD:0016575,GARD:0022531,GARD:0020094,GARD:0017433,Rare genetic disease +GARD:0016576,GARD:0022516,GARD:0018918,,Rare gastroenterologic disease +GARD:0016576,GARD:0022508,GARD:0020755,,Rare inborn errors of metabolism +GARD:0016576,GARD:0022531,GARD:0021546,,Rare genetic disease +GARD:0016576,GARD:0022531,GARD:0020755,,Rare genetic disease +GARD:0016576,GARD:0022536,GARD:0018918,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016577,GARD:0022527,GARD:0022014,,Rare circulatory system disease +GARD:0016578,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016578,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016578,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016578,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0016578,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0016578,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0016579,GARD:0022536,GARD:0009228,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016579,GARD:0022512,GARD:0009228,,Rare renal disease +GARD:0016579,GARD:0022531,GARD:0009228,,Rare genetic disease +GARD:0016579,GARD:0022513,GARD:0009228,,Rare developmental defect during embryogenesis +GARD:0016580,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0016580,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0016580,GARD:0022505,GARD:0020702,,Rare teratologic disease +GARD:0016580,GARD:0022536,GARD:0020524,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016580,GARD:0022515,GARD:0020524,,Rare cardiac disease +GARD:0016580,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0016580,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0016580,GARD:0022513,GARD:0020702,,Rare developmental defect during embryogenesis +GARD:0016581,GARD:0022531,GARD:0020762,GARD:0016190,Rare genetic disease +GARD:0016581,GARD:0022531,GARD:0020762,GARD:0016093,Rare genetic disease +GARD:0016581,GARD:0022508,GARD:0020762,GARD:0016190,Rare inborn errors of metabolism +GARD:0016581,GARD:0022531,GARD:0019435,GARD:0015456,Rare genetic disease +GARD:0016581,GARD:0022531,GARD:0019435,GARD:0016190,Rare genetic disease +GARD:0016581,GARD:0022531,GARD:0019435,GARD:0016093,Rare genetic disease +GARD:0016581,GARD:0022524,GARD:0019435,GARD:0015456,Rare neurologic disease +GARD:0016581,GARD:0022508,GARD:0020762,GARD:0016093,Rare inborn errors of metabolism +GARD:0016581,GARD:0022524,GARD:0019435,GARD:0016190,Rare neurologic disease +GARD:0016581,GARD:0022508,GARD:0020762,GARD:0015456,Rare inborn errors of metabolism +GARD:0016581,GARD:0022531,GARD:0020762,GARD:0015456,Rare genetic disease +GARD:0016581,GARD:0022524,GARD:0019435,GARD:0016093,Rare neurologic disease +GARD:0016582,GARD:0022526,GARD:0020055,GARD:0002474,Rare odontologic disease +GARD:0016582,GARD:0022531,GARD:0020302,GARD:0002475,Rare genetic disease +GARD:0016582,GARD:0022531,GARD:0021748,GARD:0002474,Rare genetic disease +GARD:0016582,GARD:0022526,GARD:0020055,GARD:0009911,Rare odontologic disease +GARD:0016582,GARD:0022531,GARD:0021748,GARD:0009911,Rare genetic disease +GARD:0016582,GARD:0022531,GARD:0021748,GARD:0018357,Rare genetic disease +GARD:0016582,GARD:0022531,GARD:0020302,GARD:0018357,Rare genetic disease +GARD:0016582,GARD:0022531,GARD:0021748,GARD:0006509,Rare genetic disease +GARD:0016582,GARD:0022531,GARD:0020302,GARD:0006509,Rare genetic disease +GARD:0016582,GARD:0022531,GARD:0020302,GARD:0009911,Rare genetic disease +GARD:0016582,GARD:0022531,GARD:0021748,GARD:0002475,Rare genetic disease +GARD:0016582,GARD:0022531,GARD:0020302,GARD:0002474,Rare genetic disease +GARD:0016582,GARD:0022526,GARD:0020055,GARD:0018357,Rare odontologic disease +GARD:0016582,GARD:0022526,GARD:0020055,GARD:0006509,Rare odontologic disease +GARD:0016582,GARD:0022526,GARD:0020055,GARD:0002475,Rare odontologic disease +GARD:0016583,GARD:0022535,GARD:0018907,,Rare neoplastic disease +GARD:0016583,GARD:0022513,GARD:0022029,,Rare developmental defect during embryogenesis +GARD:0016583,GARD:0022531,GARD:0022029,,Rare genetic disease +GARD:0016583,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0016583,GARD:0022510,GARD:0019010,,Rare skin disease +GARD:0016583,GARD:0022531,GARD:0021970,,Rare genetic disease +GARD:0016583,GARD:0022511,GARD:0022029,,Rare bone disease +GARD:0016583,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0016583,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0016584,GARD:0022531,GARD:0022440,GARD:0010806,Rare genetic disease +GARD:0016584,GARD:0022524,GARD:0022440,GARD:0010806,Rare neurologic disease +GARD:0016584,GARD:0022524,GARD:0022440,GARD:0017010,Rare neurologic disease +GARD:0016584,GARD:0022531,GARD:0020086,GARD:0016834,Rare genetic disease +GARD:0016584,GARD:0022531,GARD:0020086,GARD:0010806,Rare genetic disease +GARD:0016584,GARD:0022531,GARD:0020086,GARD:0017010,Rare genetic disease +GARD:0016584,GARD:0022531,GARD:0022440,GARD:0017010,Rare genetic disease +GARD:0016584,GARD:0022524,GARD:0020086,GARD:0017010,Rare neurologic disease +GARD:0016584,GARD:0022524,GARD:0020086,GARD:0016834,Rare neurologic disease +GARD:0016584,GARD:0022524,GARD:0020086,GARD:0010806,Rare neurologic disease +GARD:0016584,GARD:0022531,GARD:0022440,GARD:0016834,Rare genetic disease +GARD:0016584,GARD:0022524,GARD:0022440,GARD:0016834,Rare neurologic disease +GARD:0016585,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016585,GARD:0022514,GARD:0019408,,Rare gynecologic or obstetric disease +GARD:0016585,GARD:0022532,GARD:0021463,,Rare urogenital disease +GARD:0016585,GARD:0022529,GARD:0021683,,Rare infertility +GARD:0016585,GARD:0022531,GARD:0019408,,Rare genetic disease +GARD:0016585,GARD:0022521,GARD:0021463,,Rare endocrine disease +GARD:0016585,GARD:0022513,GARD:0021463,,Rare developmental defect during embryogenesis +GARD:0016585,GARD:0022531,GARD:0021463,,Rare genetic disease +GARD:0016585,GARD:0022531,GARD:0021683,,Rare genetic disease +GARD:0016586,GARD:0022524,GARD:0019832,GARD:0019775,Rare neurologic disease +GARD:0016586,GARD:0022531,GARD:0022441,GARD:0012724,Rare genetic disease +GARD:0016586,GARD:0022513,GARD:0020041,GARD:0005050,Rare developmental defect during embryogenesis +GARD:0016586,GARD:0022513,GARD:0019832,GARD:0012724,Rare developmental defect during embryogenesis +GARD:0016586,GARD:0022531,GARD:0020041,GARD:0005050,Rare genetic disease +GARD:0016586,GARD:0022524,GARD:0020041,GARD:0019775,Rare neurologic disease +GARD:0016586,GARD:0022524,GARD:0019832,GARD:0005050,Rare neurologic disease +GARD:0016586,GARD:0022531,GARD:0020041,GARD:0019775,Rare genetic disease +GARD:0016586,GARD:0022531,GARD:0022441,GARD:0019775,Rare genetic disease +GARD:0016586,GARD:0022513,GARD:0020041,GARD:0012724,Rare developmental defect during embryogenesis +GARD:0016586,GARD:0022513,GARD:0019832,GARD:0019775,Rare developmental defect during embryogenesis +GARD:0016586,GARD:0022524,GARD:0020041,GARD:0012724,Rare neurologic disease +GARD:0016586,GARD:0022513,GARD:0019832,GARD:0005050,Rare developmental defect during embryogenesis +GARD:0016586,GARD:0022531,GARD:0020041,GARD:0012724,Rare genetic disease +GARD:0016586,GARD:0022531,GARD:0022441,GARD:0005050,Rare genetic disease +GARD:0016586,GARD:0022513,GARD:0020041,GARD:0019775,Rare developmental defect during embryogenesis +GARD:0016586,GARD:0022524,GARD:0019832,GARD:0012724,Rare neurologic disease +GARD:0016586,GARD:0022524,GARD:0020041,GARD:0005050,Rare neurologic disease +GARD:0016587,GARD:0022512,GARD:0019230,GARD:0018583,Rare renal disease +GARD:0016587,GARD:0022531,GARD:0020306,GARD:0018584,Rare genetic disease +GARD:0016587,GARD:0022536,GARD:0022061,GARD:0018584,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016587,GARD:0022512,GARD:0019230,GARD:0018584,Rare renal disease +GARD:0016587,GARD:0022536,GARD:0022061,GARD:0018583,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016587,GARD:0022531,GARD:0020306,GARD:0018583,Rare genetic disease +GARD:0016588,GARD:0022529,GARD:0020233,,Rare infertility +GARD:0016588,GARD:0022531,GARD:0020233,,Rare genetic disease +GARD:0016588,GARD:0022521,GARD:0020233,,Rare endocrine disease +GARD:0016589,GARD:0022520,GARD:0002910,GARD:0002914,Rare ophthalmic disorder +GARD:0016589,GARD:0022521,GARD:0002910,GARD:0002914,Rare endocrine disease +GARD:0016589,GARD:0022531,GARD:0002910,GARD:0002914,Rare genetic disease +GARD:0016590,GARD:0022529,GARD:0020219,,Rare infertility +GARD:0016590,GARD:0022521,GARD:0020219,,Rare endocrine disease +GARD:0016590,GARD:0022514,GARD:0020219,,Rare gynecologic or obstetric disease +GARD:0016590,GARD:0022531,GARD:0020219,,Rare genetic disease +GARD:0016590,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0016590,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0016591,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0016591,GARD:0022513,GARD:0019867,,Rare developmental defect during embryogenesis +GARD:0016591,GARD:0022518,GARD:0019867,,Rare surgical thoracic disease +GARD:0016591,GARD:0022531,GARD:0020311,,Rare genetic disease +GARD:0016591,GARD:0022531,GARD:0019867,,Rare genetic disease +GARD:0016592,GARD:0022536,GARD:0019859,GARD:0018585,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016592,GARD:0022513,GARD:0019859,GARD:0018585,Rare developmental defect during embryogenesis +GARD:0016592,GARD:0022531,GARD:0019859,GARD:0018585,Rare genetic disease +GARD:0016592,GARD:0022536,GARD:0021578,GARD:0003017,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016592,GARD:0022536,GARD:0021578,GARD:0018585,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016592,GARD:0022516,GARD:0021578,GARD:0018585,Rare gastroenterologic disease +GARD:0016592,GARD:0022516,GARD:0021578,GARD:0003017,Rare gastroenterologic disease +GARD:0016592,GARD:0022513,GARD:0019859,GARD:0003017,Rare developmental defect during embryogenesis +GARD:0016592,GARD:0022534,GARD:0019859,GARD:0003017,Rare abdominal surgical disease +GARD:0016592,GARD:0022531,GARD:0021578,GARD:0003017,Rare genetic disease +GARD:0016592,GARD:0022531,GARD:0019859,GARD:0003017,Rare genetic disease +GARD:0016592,GARD:0022531,GARD:0021578,GARD:0018585,Rare genetic disease +GARD:0016592,GARD:0022536,GARD:0019859,GARD:0003017,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016592,GARD:0022534,GARD:0019859,GARD:0018585,Rare abdominal surgical disease +GARD:0016593,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0016593,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0016593,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0016593,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0016593,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0016594,GARD:0022511,GARD:0019197,GARD:0000083,Rare bone disease +GARD:0016594,GARD:0022521,GARD:0020223,GARD:0008367,Rare endocrine disease +GARD:0016594,GARD:0022531,GARD:0019197,GARD:0008367,Rare genetic disease +GARD:0016594,GARD:0022531,GARD:0020299,GARD:0008367,Rare genetic disease +GARD:0016594,GARD:0022511,GARD:0019197,GARD:0008367,Rare bone disease +GARD:0016594,GARD:0022531,GARD:0020299,GARD:0000083,Rare genetic disease +GARD:0016594,GARD:0022513,GARD:0019902,GARD:0000083,Rare developmental defect during embryogenesis +GARD:0016594,GARD:0022513,GARD:0019197,GARD:0008367,Rare developmental defect during embryogenesis +GARD:0016594,GARD:0022531,GARD:0019197,GARD:0000083,Rare genetic disease +GARD:0016594,GARD:0022531,GARD:0020223,GARD:0008367,Rare genetic disease +GARD:0016594,GARD:0022531,GARD:0020223,GARD:0000083,Rare genetic disease +GARD:0016594,GARD:0022521,GARD:0020223,GARD:0000083,Rare endocrine disease +GARD:0016594,GARD:0022513,GARD:0019902,GARD:0008367,Rare developmental defect during embryogenesis +GARD:0016594,GARD:0022513,GARD:0019197,GARD:0000083,Rare developmental defect during embryogenesis +GARD:0016595,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0016595,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0016595,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0016596,GARD:0022528,GARD:0020001,,Rare otorhinolaryngologic disease +GARD:0016596,GARD:0022531,GARD:0021811,,Rare genetic disease +GARD:0016596,GARD:0022513,GARD:0020001,,Rare developmental defect during embryogenesis +GARD:0016597,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0016597,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0016598,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016598,GARD:0022531,GARD:0021431,,Rare genetic disease +GARD:0016598,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016598,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016598,GARD:0022524,GARD:0021431,,Rare neurologic disease +GARD:0016599,GARD:0022531,GARD:0003342,,Rare genetic disease +GARD:0016599,GARD:0022513,GARD:0003342,,Rare developmental defect during embryogenesis +GARD:0016599,GARD:0022507,GARD:0003342,,Rare maxillo-facial surgical disease +GARD:0016600,GARD:0022527,GARD:0020462,,Rare circulatory system disease +GARD:0016600,GARD:0022513,GARD:0020462,,Rare developmental defect during embryogenesis +GARD:0016600,GARD:0022531,GARD:0021924,,Rare genetic disease +GARD:0016601,GARD:0022513,GARD:0020338,GARD:0020977,Rare developmental defect during embryogenesis +GARD:0016601,GARD:0022524,GARD:0020338,GARD:0020977,Rare neurologic disease +GARD:0016602,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016602,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0016602,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0016602,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016602,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016603,GARD:0022531,GARD:0022441,GARD:0018482,Rare genetic disease +GARD:0016603,GARD:0022531,GARD:0022441,GARD:0018481,Rare genetic disease +GARD:0016603,GARD:0022520,GARD:0022108,GARD:0018482,Rare ophthalmic disorder +GARD:0016603,GARD:0022520,GARD:0022106,GARD:0018482,Rare ophthalmic disorder +GARD:0016603,GARD:0022531,GARD:0022106,GARD:0018482,Rare genetic disease +GARD:0016603,GARD:0022531,GARD:0022106,GARD:0018481,Rare genetic disease +GARD:0016603,GARD:0022531,GARD:0022108,GARD:0018481,Rare genetic disease +GARD:0016603,GARD:0022520,GARD:0022106,GARD:0018481,Rare ophthalmic disorder +GARD:0016603,GARD:0022513,GARD:0019832,GARD:0018481,Rare developmental defect during embryogenesis +GARD:0016603,GARD:0022513,GARD:0019832,GARD:0018482,Rare developmental defect during embryogenesis +GARD:0016603,GARD:0022520,GARD:0022108,GARD:0018481,Rare ophthalmic disorder +GARD:0016603,GARD:0022531,GARD:0022108,GARD:0018482,Rare genetic disease +GARD:0016603,GARD:0022524,GARD:0019832,GARD:0018482,Rare neurologic disease +GARD:0016603,GARD:0022524,GARD:0019832,GARD:0018481,Rare neurologic disease +GARD:0016604,GARD:0022531,GARD:0000777,GARD:0018566,Rare genetic disease +GARD:0016604,GARD:0022513,GARD:0000777,GARD:0018566,Rare developmental defect during embryogenesis +GARD:0016604,GARD:0022531,GARD:0000777,GARD:0018564,Rare genetic disease +GARD:0016604,GARD:0022513,GARD:0000777,GARD:0018565,Rare developmental defect during embryogenesis +GARD:0016604,GARD:0022531,GARD:0000777,GARD:0018567,Rare genetic disease +GARD:0016604,GARD:0022531,GARD:0000777,GARD:0018565,Rare genetic disease +GARD:0016604,GARD:0022513,GARD:0000777,GARD:0018564,Rare developmental defect during embryogenesis +GARD:0016604,GARD:0022513,GARD:0000777,GARD:0018567,Rare developmental defect during embryogenesis +GARD:0016605,GARD:0022523,GARD:0020167,,Rare immune disease +GARD:0016606,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0016606,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0016606,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016606,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016606,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016606,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0016606,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0016606,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0016606,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0016607,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0016607,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0016607,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0016607,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0016607,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0016608,GARD:0022513,GARD:0019195,GARD:0003643,Rare developmental defect during embryogenesis +GARD:0016608,GARD:0022531,GARD:0019195,GARD:0003643,Rare genetic disease +GARD:0016608,GARD:0022511,GARD:0019195,GARD:0004076,Rare bone disease +GARD:0016608,GARD:0022513,GARD:0019195,GARD:0004076,Rare developmental defect during embryogenesis +GARD:0016608,GARD:0022531,GARD:0019195,GARD:0004076,Rare genetic disease +GARD:0016608,GARD:0022511,GARD:0019195,GARD:0003643,Rare bone disease +GARD:0016609,GARD:0022531,GARD:0010711,,Rare genetic disease +GARD:0016609,GARD:0022524,GARD:0010711,,Rare neurologic disease +GARD:0016610,GARD:0022524,GARD:0012959,GARD:0018605,Rare neurologic disease +GARD:0016610,GARD:0022524,GARD:0012959,GARD:0018609,Rare neurologic disease +GARD:0016610,GARD:0022531,GARD:0021878,GARD:0018604,Rare genetic disease +GARD:0016610,GARD:0022524,GARD:0012959,GARD:0018608,Rare neurologic disease +GARD:0016610,GARD:0022524,GARD:0012959,GARD:0018604,Rare neurologic disease +GARD:0016610,GARD:0022524,GARD:0012959,GARD:0008578,Rare neurologic disease +GARD:0016610,GARD:0022524,GARD:0021261,GARD:0009642,Rare neurologic disease +GARD:0016610,GARD:0022524,GARD:0012959,GARD:0018610,Rare neurologic disease +GARD:0016610,GARD:0022531,GARD:0021284,GARD:0018609,Rare genetic disease +GARD:0016610,GARD:0022531,GARD:0021284,GARD:0018604,Rare genetic disease +GARD:0016610,GARD:0022524,GARD:0021261,GARD:0018606,Rare neurologic disease +GARD:0016610,GARD:0022531,GARD:0021878,GARD:0018610,Rare genetic disease +GARD:0016610,GARD:0022531,GARD:0021284,GARD:0018606,Rare genetic disease +GARD:0016610,GARD:0022524,GARD:0012959,GARD:0018607,Rare neurologic disease +GARD:0016610,GARD:0022524,GARD:0012959,GARD:0009642,Rare neurologic disease +GARD:0016610,GARD:0022531,GARD:0021878,GARD:0008578,Rare genetic disease +GARD:0016610,GARD:0022531,GARD:0021284,GARD:0018605,Rare genetic disease +GARD:0016610,GARD:0022524,GARD:0021261,GARD:0018607,Rare neurologic disease +GARD:0016610,GARD:0022531,GARD:0021284,GARD:0008578,Rare genetic disease +GARD:0016610,GARD:0022524,GARD:0012959,GARD:0018606,Rare neurologic disease +GARD:0016610,GARD:0022531,GARD:0021284,GARD:0009642,Rare genetic disease +GARD:0016610,GARD:0022531,GARD:0021284,GARD:0018608,Rare genetic disease +GARD:0016610,GARD:0022531,GARD:0021878,GARD:0018608,Rare genetic disease +GARD:0016610,GARD:0022524,GARD:0021261,GARD:0018608,Rare neurologic disease +GARD:0016610,GARD:0022524,GARD:0021261,GARD:0018605,Rare neurologic disease +GARD:0016610,GARD:0022531,GARD:0021878,GARD:0018606,Rare genetic disease +GARD:0016610,GARD:0022531,GARD:0021878,GARD:0018605,Rare genetic disease +GARD:0016610,GARD:0022524,GARD:0021261,GARD:0018610,Rare neurologic disease +GARD:0016610,GARD:0022531,GARD:0021878,GARD:0018609,Rare genetic disease +GARD:0016610,GARD:0022524,GARD:0021261,GARD:0018609,Rare neurologic disease +GARD:0016610,GARD:0022531,GARD:0021284,GARD:0018610,Rare genetic disease +GARD:0016610,GARD:0022524,GARD:0021261,GARD:0008578,Rare neurologic disease +GARD:0016610,GARD:0022531,GARD:0021878,GARD:0009642,Rare genetic disease +GARD:0016610,GARD:0022524,GARD:0021261,GARD:0018604,Rare neurologic disease +GARD:0016610,GARD:0022531,GARD:0021878,GARD:0018607,Rare genetic disease +GARD:0016610,GARD:0022531,GARD:0021284,GARD:0018607,Rare genetic disease +GARD:0016611,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0016611,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0016611,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0016612,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0016612,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0016613,GARD:0022531,GARD:0018956,GARD:0004278,Rare genetic disease +GARD:0016613,GARD:0022508,GARD:0018956,GARD:0004278,Rare inborn errors of metabolism +GARD:0016613,GARD:0022508,GARD:0018956,GARD:0004279,Rare inborn errors of metabolism +GARD:0016613,GARD:0022531,GARD:0018956,GARD:0004279,Rare genetic disease +GARD:0016614,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0016614,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0016614,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0016615,GARD:0022523,GARD:0021510,,Rare immune disease +GARD:0016615,GARD:0022531,GARD:0021510,,Rare genetic disease +GARD:0016616,GARD:0022531,GARD:0020321,GARD:0006893,Rare genetic disease +GARD:0016616,GARD:0022531,GARD:0022157,GARD:0016915,Rare genetic disease +GARD:0016616,GARD:0022520,GARD:0019542,GARD:0016915,Rare ophthalmic disorder +GARD:0016616,GARD:0022520,GARD:0019542,GARD:0004634,Rare ophthalmic disorder +GARD:0016616,GARD:0022531,GARD:0020321,GARD:0004634,Rare genetic disease +GARD:0016616,GARD:0022531,GARD:0022157,GARD:0006893,Rare genetic disease +GARD:0016616,GARD:0022523,GARD:0020321,GARD:0004634,Rare immune disease +GARD:0016616,GARD:0022523,GARD:0020321,GARD:0006893,Rare immune disease +GARD:0016616,GARD:0022531,GARD:0020321,GARD:0016915,Rare genetic disease +GARD:0016616,GARD:0022520,GARD:0019542,GARD:0006893,Rare ophthalmic disorder +GARD:0016616,GARD:0022523,GARD:0020321,GARD:0016915,Rare immune disease +GARD:0016616,GARD:0022531,GARD:0022157,GARD:0004634,Rare genetic disease +GARD:0016617,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0016617,GARD:0022532,GARD:0021467,,Rare urogenital disease +GARD:0016617,GARD:0022513,GARD:0021467,,Rare developmental defect during embryogenesis +GARD:0016617,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0016617,GARD:0022531,GARD:0021467,,Rare genetic disease +GARD:0016617,GARD:0022521,GARD:0021467,,Rare endocrine disease +GARD:0016618,GARD:0022524,GARD:0010892,,Rare neurologic disease +GARD:0016618,GARD:0022524,GARD:0022399,,Rare neurologic disease +GARD:0016618,GARD:0022513,GARD:0010892,,Rare developmental defect during embryogenesis +GARD:0016618,GARD:0022520,GARD:0010892,,Rare ophthalmic disorder +GARD:0016618,GARD:0022513,GARD:0022399,,Rare developmental defect during embryogenesis +GARD:0016618,GARD:0022531,GARD:0022399,,Rare genetic disease +GARD:0016618,GARD:0022521,GARD:0020137,,Rare endocrine disease +GARD:0016618,GARD:0022531,GARD:0020137,,Rare genetic disease +GARD:0016618,GARD:0022532,GARD:0022399,,Rare urogenital disease +GARD:0016618,GARD:0022531,GARD:0010892,,Rare genetic disease +GARD:0016618,GARD:0022511,GARD:0022399,,Rare bone disease +GARD:0016619,GARD:0022527,GARD:0019552,GARD:0019621,Rare circulatory system disease +GARD:0016619,GARD:0022519,GARD:0019552,GARD:0019621,Rare surgical cardiac disease +GARD:0016619,GARD:0022519,GARD:0019552,GARD:0019620,Rare surgical cardiac disease +GARD:0016619,GARD:0022513,GARD:0019552,GARD:0016892,Rare developmental defect during embryogenesis +GARD:0016619,GARD:0022513,GARD:0019552,GARD:0019620,Rare developmental defect during embryogenesis +GARD:0016619,GARD:0022519,GARD:0019552,GARD:0016892,Rare surgical cardiac disease +GARD:0016619,GARD:0022527,GARD:0019552,GARD:0019620,Rare circulatory system disease +GARD:0016619,GARD:0022527,GARD:0019552,GARD:0016892,Rare circulatory system disease +GARD:0016619,GARD:0022513,GARD:0019552,GARD:0019621,Rare developmental defect during embryogenesis +GARD:0016620,GARD:0022511,GARD:0000312,GARD:0002013,Rare bone disease +GARD:0016620,GARD:0022511,GARD:0000312,GARD:0018549,Rare bone disease +GARD:0016620,GARD:0022511,GARD:0000312,GARD:0018548,Rare bone disease +GARD:0016620,GARD:0022513,GARD:0000312,GARD:0018549,Rare developmental defect during embryogenesis +GARD:0016620,GARD:0022531,GARD:0000312,GARD:0018548,Rare genetic disease +GARD:0016620,GARD:0022513,GARD:0000312,GARD:0002013,Rare developmental defect during embryogenesis +GARD:0016620,GARD:0022513,GARD:0000312,GARD:0018548,Rare developmental defect during embryogenesis +GARD:0016620,GARD:0022524,GARD:0000312,GARD:0018548,Rare neurologic disease +GARD:0016620,GARD:0022524,GARD:0000312,GARD:0002013,Rare neurologic disease +GARD:0016620,GARD:0022531,GARD:0000312,GARD:0018549,Rare genetic disease +GARD:0016620,GARD:0022531,GARD:0000312,GARD:0002013,Rare genetic disease +GARD:0016620,GARD:0022524,GARD:0000312,GARD:0018549,Rare neurologic disease +GARD:0016621,GARD:0022531,GARD:0018890,GARD:0003903,Rare genetic disease +GARD:0016621,GARD:0022531,GARD:0020550,GARD:0009161,Rare genetic disease +GARD:0016621,GARD:0022508,GARD:0018977,GARD:0000116,Rare inborn errors of metabolism +GARD:0016621,GARD:0022524,GARD:0020550,GARD:0000116,Rare neurologic disease +GARD:0016621,GARD:0022524,GARD:0018890,GARD:0003903,Rare neurologic disease +GARD:0016621,GARD:0022531,GARD:0018890,GARD:0000116,Rare genetic disease +GARD:0016621,GARD:0022520,GARD:0019527,GARD:0000116,Rare ophthalmic disorder +GARD:0016621,GARD:0022524,GARD:0020550,GARD:0009161,Rare neurologic disease +GARD:0016621,GARD:0022531,GARD:0022170,GARD:0000116,Rare genetic disease +GARD:0016621,GARD:0022520,GARD:0019527,GARD:0009161,Rare ophthalmic disorder +GARD:0016621,GARD:0022531,GARD:0018977,GARD:0000116,Rare genetic disease +GARD:0016621,GARD:0022531,GARD:0018977,GARD:0009161,Rare genetic disease +GARD:0016621,GARD:0022531,GARD:0022170,GARD:0009161,Rare genetic disease +GARD:0016621,GARD:0022508,GARD:0018977,GARD:0009161,Rare inborn errors of metabolism +GARD:0016621,GARD:0022531,GARD:0022170,GARD:0003903,Rare genetic disease +GARD:0016621,GARD:0022520,GARD:0019527,GARD:0003903,Rare ophthalmic disorder +GARD:0016621,GARD:0022524,GARD:0018890,GARD:0009161,Rare neurologic disease +GARD:0016621,GARD:0022531,GARD:0020550,GARD:0003903,Rare genetic disease +GARD:0016621,GARD:0022531,GARD:0020550,GARD:0000116,Rare genetic disease +GARD:0016621,GARD:0022531,GARD:0018890,GARD:0009161,Rare genetic disease +GARD:0016621,GARD:0022531,GARD:0018977,GARD:0003903,Rare genetic disease +GARD:0016621,GARD:0022508,GARD:0018977,GARD:0003903,Rare inborn errors of metabolism +GARD:0016621,GARD:0022524,GARD:0018890,GARD:0000116,Rare neurologic disease +GARD:0016621,GARD:0022524,GARD:0020550,GARD:0003903,Rare neurologic disease +GARD:0016622,GARD:0022531,GARD:0020241,,Rare genetic disease +GARD:0016622,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0016622,GARD:0022524,GARD:0020241,,Rare neurologic disease +GARD:0016622,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0016623,GARD:0022519,GARD:0019553,GARD:0004594,Rare surgical cardiac disease +GARD:0016623,GARD:0022527,GARD:0019553,GARD:0019622,Rare circulatory system disease +GARD:0016623,GARD:0022513,GARD:0019553,GARD:0005051,Rare developmental defect during embryogenesis +GARD:0016623,GARD:0022527,GARD:0019553,GARD:0005051,Rare circulatory system disease +GARD:0016623,GARD:0022519,GARD:0019553,GARD:0019622,Rare surgical cardiac disease +GARD:0016623,GARD:0022513,GARD:0019553,GARD:0004594,Rare developmental defect during embryogenesis +GARD:0016623,GARD:0022519,GARD:0019553,GARD:0005051,Rare surgical cardiac disease +GARD:0016623,GARD:0022513,GARD:0019553,GARD:0019622,Rare developmental defect during embryogenesis +GARD:0016623,GARD:0022527,GARD:0019553,GARD:0004594,Rare circulatory system disease +GARD:0016624,GARD:0022510,GARD:0006317,GARD:0001685,Rare skin disease +GARD:0016624,GARD:0022531,GARD:0019001,GARD:0004732,Rare genetic disease +GARD:0016624,GARD:0022531,GARD:0022170,GARD:0004732,Rare genetic disease +GARD:0016624,GARD:0022513,GARD:0006317,GARD:0001685,Rare developmental defect during embryogenesis +GARD:0016624,GARD:0022520,GARD:0019527,GARD:0004732,Rare ophthalmic disorder +GARD:0016624,GARD:0022520,GARD:0019527,GARD:0001685,Rare ophthalmic disorder +GARD:0016624,GARD:0022513,GARD:0019832,GARD:0004732,Rare developmental defect during embryogenesis +GARD:0016624,GARD:0022513,GARD:0019145,GARD:0004732,Rare developmental defect during embryogenesis +GARD:0016624,GARD:0022513,GARD:0006317,GARD:0004732,Rare developmental defect during embryogenesis +GARD:0016624,GARD:0022513,GARD:0019145,GARD:0001685,Rare developmental defect during embryogenesis +GARD:0016624,GARD:0022531,GARD:0019145,GARD:0001685,Rare genetic disease +GARD:0016624,GARD:0022510,GARD:0019001,GARD:0004732,Rare skin disease +GARD:0016624,GARD:0022531,GARD:0019001,GARD:0001685,Rare genetic disease +GARD:0016624,GARD:0022531,GARD:0006317,GARD:0004732,Rare genetic disease +GARD:0016624,GARD:0022528,GARD:0019145,GARD:0004732,Rare otorhinolaryngologic disease +GARD:0016624,GARD:0022531,GARD:0006317,GARD:0001685,Rare genetic disease +GARD:0016624,GARD:0022510,GARD:0006317,GARD:0004732,Rare skin disease +GARD:0016624,GARD:0022513,GARD:0019832,GARD:0001685,Rare developmental defect during embryogenesis +GARD:0016624,GARD:0022531,GARD:0022441,GARD:0004732,Rare genetic disease +GARD:0016624,GARD:0022510,GARD:0019001,GARD:0001685,Rare skin disease +GARD:0016624,GARD:0022531,GARD:0022441,GARD:0001685,Rare genetic disease +GARD:0016624,GARD:0022524,GARD:0019832,GARD:0004732,Rare neurologic disease +GARD:0016624,GARD:0022531,GARD:0022170,GARD:0001685,Rare genetic disease +GARD:0016624,GARD:0022528,GARD:0019145,GARD:0001685,Rare otorhinolaryngologic disease +GARD:0016624,GARD:0022524,GARD:0019832,GARD:0001685,Rare neurologic disease +GARD:0016624,GARD:0022531,GARD:0019145,GARD:0004732,Rare genetic disease +GARD:0016625,GARD:0022522,GARD:0002804,,Rare hematologic disease +GARD:0016625,GARD:0022535,GARD:0002804,,Rare neoplastic disease +GARD:0016625,GARD:0022536,GARD:0002804,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016625,GARD:0022515,GARD:0002804,,Rare cardiac disease +GARD:0016626,GARD:0022511,GARD:0022469,GARD:0018558,Rare bone disease +GARD:0016626,GARD:0022531,GARD:0022469,GARD:0018558,Rare genetic disease +GARD:0016626,GARD:0022520,GARD:0019543,GARD:0018558,Rare ophthalmic disorder +GARD:0016626,GARD:0022511,GARD:0022469,GARD:0018559,Rare bone disease +GARD:0016626,GARD:0022531,GARD:0019543,GARD:0018558,Rare genetic disease +GARD:0016626,GARD:0022513,GARD:0022469,GARD:0018559,Rare developmental defect during embryogenesis +GARD:0016626,GARD:0022513,GARD:0022469,GARD:0018558,Rare developmental defect during embryogenesis +GARD:0016626,GARD:0022520,GARD:0019543,GARD:0018559,Rare ophthalmic disorder +GARD:0016626,GARD:0022531,GARD:0022469,GARD:0018559,Rare genetic disease +GARD:0016626,GARD:0022531,GARD:0019543,GARD:0018559,Rare genetic disease +GARD:0016627,GARD:0022531,GARD:0021969,,Rare genetic disease +GARD:0016627,GARD:0022513,GARD:0008189,,Rare developmental defect during embryogenesis +GARD:0016627,GARD:0022519,GARD:0008189,,Rare surgical cardiac disease +GARD:0016628,GARD:0022512,GARD:0019229,GARD:0005620,Rare renal disease +GARD:0016628,GARD:0022512,GARD:0019229,GARD:0005621,Rare renal disease +GARD:0016628,GARD:0022531,GARD:0018965,GARD:0005621,Rare genetic disease +GARD:0016628,GARD:0022531,GARD:0019229,GARD:0005620,Rare genetic disease +GARD:0016628,GARD:0022531,GARD:0019229,GARD:0005621,Rare genetic disease +GARD:0016628,GARD:0022508,GARD:0018965,GARD:0005620,Rare inborn errors of metabolism +GARD:0016628,GARD:0022531,GARD:0018965,GARD:0005620,Rare genetic disease +GARD:0016628,GARD:0022508,GARD:0018965,GARD:0005621,Rare inborn errors of metabolism +GARD:0016629,GARD:0022531,GARD:0019801,GARD:0018603,Rare genetic disease +GARD:0016629,GARD:0022521,GARD:0006015,GARD:0018602,Rare endocrine disease +GARD:0016629,GARD:0022531,GARD:0019801,GARD:0018602,Rare genetic disease +GARD:0016629,GARD:0022521,GARD:0006015,GARD:0018603,Rare endocrine disease +GARD:0016630,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0016630,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0016630,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0016630,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0016630,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0016630,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0016630,GARD:0022524,GARD:0020084,,Rare neurologic disease +GARD:0016630,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0016630,GARD:0022531,GARD:0020084,,Rare genetic disease +GARD:0016630,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0016631,GARD:0022522,GARD:0019459,,Rare hematologic disease +GARD:0016631,GARD:0022531,GARD:0018970,,Rare genetic disease +GARD:0016631,GARD:0022531,GARD:0019459,,Rare genetic disease +GARD:0016631,GARD:0022508,GARD:0018970,,Rare inborn errors of metabolism +GARD:0016632,GARD:0022531,GARD:0021405,,Rare genetic disease +GARD:0016632,GARD:0022536,GARD:0021405,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016632,GARD:0022523,GARD:0021405,,Rare immune disease +GARD:0016633,GARD:0022520,GARD:0019543,GARD:0018045,Rare ophthalmic disorder +GARD:0016633,GARD:0022531,GARD:0022469,GARD:0018046,Rare genetic disease +GARD:0016633,GARD:0022531,GARD:0022469,GARD:0018045,Rare genetic disease +GARD:0016633,GARD:0022531,GARD:0019543,GARD:0018046,Rare genetic disease +GARD:0016633,GARD:0022511,GARD:0022469,GARD:0018046,Rare bone disease +GARD:0016633,GARD:0022513,GARD:0022469,GARD:0018046,Rare developmental defect during embryogenesis +GARD:0016633,GARD:0022511,GARD:0022469,GARD:0018045,Rare bone disease +GARD:0016633,GARD:0022513,GARD:0022469,GARD:0018045,Rare developmental defect during embryogenesis +GARD:0016633,GARD:0022531,GARD:0019543,GARD:0018045,Rare genetic disease +GARD:0016633,GARD:0022520,GARD:0019543,GARD:0018046,Rare ophthalmic disorder +GARD:0016634,GARD:0022520,GARD:0019543,GARD:0018047,Rare ophthalmic disorder +GARD:0016634,GARD:0022511,GARD:0022474,GARD:0018047,Rare bone disease +GARD:0016634,GARD:0022520,GARD:0019543,GARD:0018048,Rare ophthalmic disorder +GARD:0016634,GARD:0022511,GARD:0022474,GARD:0018045,Rare bone disease +GARD:0016634,GARD:0022531,GARD:0019543,GARD:0018047,Rare genetic disease +GARD:0016634,GARD:0022511,GARD:0022474,GARD:0018048,Rare bone disease +GARD:0016634,GARD:0022531,GARD:0019543,GARD:0018048,Rare genetic disease +GARD:0016634,GARD:0022513,GARD:0022474,GARD:0018045,Rare developmental defect during embryogenesis +GARD:0016634,GARD:0022520,GARD:0019543,GARD:0018045,Rare ophthalmic disorder +GARD:0016634,GARD:0022531,GARD:0022474,GARD:0018048,Rare genetic disease +GARD:0016634,GARD:0022531,GARD:0019543,GARD:0018045,Rare genetic disease +GARD:0016634,GARD:0022531,GARD:0022474,GARD:0018047,Rare genetic disease +GARD:0016634,GARD:0022513,GARD:0022474,GARD:0018048,Rare developmental defect during embryogenesis +GARD:0016634,GARD:0022513,GARD:0022474,GARD:0018047,Rare developmental defect during embryogenesis +GARD:0016634,GARD:0022531,GARD:0022474,GARD:0018045,Rare genetic disease +GARD:0016635,GARD:0022508,GARD:0018967,,Rare inborn errors of metabolism +GARD:0016635,GARD:0022531,GARD:0019461,,Rare genetic disease +GARD:0016635,GARD:0022522,GARD:0019461,,Rare hematologic disease +GARD:0016635,GARD:0022531,GARD:0018967,,Rare genetic disease +GARD:0016636,GARD:0022508,GARD:0018884,,Rare inborn errors of metabolism +GARD:0016636,GARD:0022531,GARD:0018884,,Rare genetic disease +GARD:0016637,GARD:0022531,GARD:0022157,GARD:0018628,Rare genetic disease +GARD:0016637,GARD:0022520,GARD:0019522,GARD:0018628,Rare ophthalmic disorder +GARD:0016637,GARD:0022531,GARD:0022189,GARD:0018629,Rare genetic disease +GARD:0016637,GARD:0022520,GARD:0019542,GARD:0018629,Rare ophthalmic disorder +GARD:0016637,GARD:0022520,GARD:0012085,GARD:0018625,Rare ophthalmic disorder +GARD:0016637,GARD:0022513,GARD:0019522,GARD:0018625,Rare developmental defect during embryogenesis +GARD:0016637,GARD:0022531,GARD:0022157,GARD:0018625,Rare genetic disease +GARD:0016637,GARD:0022513,GARD:0019522,GARD:0018628,Rare developmental defect during embryogenesis +GARD:0016637,GARD:0022531,GARD:0022157,GARD:0018627,Rare genetic disease +GARD:0016637,GARD:0022520,GARD:0019522,GARD:0018625,Rare ophthalmic disorder +GARD:0016637,GARD:0022520,GARD:0019522,GARD:0018629,Rare ophthalmic disorder +GARD:0016637,GARD:0022513,GARD:0012085,GARD:0018627,Rare developmental defect during embryogenesis +GARD:0016637,GARD:0022513,GARD:0012085,GARD:0018628,Rare developmental defect during embryogenesis +GARD:0016637,GARD:0022513,GARD:0019522,GARD:0018626,Rare developmental defect during embryogenesis +GARD:0016637,GARD:0022531,GARD:0012085,GARD:0018629,Rare genetic disease +GARD:0016637,GARD:0022520,GARD:0019542,GARD:0018626,Rare ophthalmic disorder +GARD:0016637,GARD:0022513,GARD:0012085,GARD:0018629,Rare developmental defect during embryogenesis +GARD:0016637,GARD:0022531,GARD:0022189,GARD:0018625,Rare genetic disease +GARD:0016637,GARD:0022520,GARD:0012085,GARD:0018628,Rare ophthalmic disorder +GARD:0016637,GARD:0022513,GARD:0012085,GARD:0018625,Rare developmental defect during embryogenesis +GARD:0016637,GARD:0022531,GARD:0022189,GARD:0018627,Rare genetic disease +GARD:0016637,GARD:0022531,GARD:0022189,GARD:0018628,Rare genetic disease +GARD:0016637,GARD:0022513,GARD:0019522,GARD:0018627,Rare developmental defect during embryogenesis +GARD:0016637,GARD:0022520,GARD:0012085,GARD:0018629,Rare ophthalmic disorder +GARD:0016637,GARD:0022520,GARD:0012085,GARD:0018626,Rare ophthalmic disorder +GARD:0016637,GARD:0022531,GARD:0012085,GARD:0018626,Rare genetic disease +GARD:0016637,GARD:0022513,GARD:0019522,GARD:0018629,Rare developmental defect during embryogenesis +GARD:0016637,GARD:0022513,GARD:0012085,GARD:0018626,Rare developmental defect during embryogenesis +GARD:0016637,GARD:0022520,GARD:0019522,GARD:0018626,Rare ophthalmic disorder +GARD:0016637,GARD:0022531,GARD:0012085,GARD:0018625,Rare genetic disease +GARD:0016637,GARD:0022531,GARD:0012085,GARD:0018627,Rare genetic disease +GARD:0016637,GARD:0022531,GARD:0012085,GARD:0018628,Rare genetic disease +GARD:0016637,GARD:0022520,GARD:0019522,GARD:0018627,Rare ophthalmic disorder +GARD:0016637,GARD:0022531,GARD:0022157,GARD:0018629,Rare genetic disease +GARD:0016637,GARD:0022520,GARD:0019542,GARD:0018628,Rare ophthalmic disorder +GARD:0016637,GARD:0022531,GARD:0022157,GARD:0018626,Rare genetic disease +GARD:0016637,GARD:0022520,GARD:0019542,GARD:0018627,Rare ophthalmic disorder +GARD:0016637,GARD:0022520,GARD:0019542,GARD:0018625,Rare ophthalmic disorder +GARD:0016637,GARD:0022520,GARD:0012085,GARD:0018627,Rare ophthalmic disorder +GARD:0016637,GARD:0022531,GARD:0022189,GARD:0018626,Rare genetic disease +GARD:0016638,GARD:0022531,GARD:0000049,,Rare genetic disease +GARD:0016638,GARD:0022518,GARD:0000049,,Rare surgical thoracic disease +GARD:0016638,GARD:0022524,GARD:0000049,,Rare neurologic disease +GARD:0016638,GARD:0022520,GARD:0000049,,Rare ophthalmic disorder +GARD:0016638,GARD:0022508,GARD:0000049,,Rare inborn errors of metabolism +GARD:0016638,GARD:0022510,GARD:0000049,,Rare skin disease +GARD:0016638,GARD:0022534,GARD:0000049,,Rare abdominal surgical disease +GARD:0016638,GARD:0022513,GARD:0000049,,Rare developmental defect during embryogenesis +GARD:0016639,GARD:0022522,GARD:0018873,GARD:0018632,Rare hematologic disease +GARD:0016639,GARD:0022531,GARD:0018873,GARD:0018632,Rare genetic disease +GARD:0016639,GARD:0022522,GARD:0018873,GARD:0018631,Rare hematologic disease +GARD:0016639,GARD:0022531,GARD:0018873,GARD:0018631,Rare genetic disease +GARD:0016639,GARD:0022531,GARD:0018873,GARD:0018630,Rare genetic disease +GARD:0016639,GARD:0022522,GARD:0018873,GARD:0018630,Rare hematologic disease +GARD:0016640,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016640,GARD:0022531,GARD:0020821,,Rare genetic disease +GARD:0016640,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016640,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016640,GARD:0022513,GARD:0020821,,Rare developmental defect during embryogenesis +GARD:0016641,GARD:0022531,GARD:0020457,,Rare genetic disease +GARD:0016641,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0016641,GARD:0022531,GARD:0019571,,Rare genetic disease +GARD:0016641,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0016641,GARD:0022524,GARD:0020457,,Rare neurologic disease +GARD:0016642,GARD:0022536,GARD:0022536,GARD:0006544,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016642,GARD:0022523,GARD:0022523,GARD:0006544,Rare immune disease +GARD:0016642,GARD:0022536,GARD:0022536,GARD:0010964,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016642,GARD:0022523,GARD:0022523,GARD:0010964,Rare immune disease +GARD:0016643,GARD:0022531,GARD:0020765,,Rare genetic disease +GARD:0016643,GARD:0022531,GARD:0019472,,Rare genetic disease +GARD:0016643,GARD:0022524,GARD:0019472,,Rare neurologic disease +GARD:0016643,GARD:0022508,GARD:0020765,,Rare inborn errors of metabolism +GARD:0016644,GARD:0022512,GARD:0007552,GARD:0021394,Rare renal disease +GARD:0016644,GARD:0022531,GARD:0007552,GARD:0021394,Rare genetic disease +GARD:0016644,GARD:0022512,GARD:0007552,GARD:0016826,Rare renal disease +GARD:0016644,GARD:0022531,GARD:0007552,GARD:0016826,Rare genetic disease +GARD:0016645,GARD:0022531,GARD:0020385,,Rare genetic disease +GARD:0016645,GARD:0022513,GARD:0019504,,Rare developmental defect during embryogenesis +GARD:0016645,GARD:0022524,GARD:0019925,,Rare neurologic disease +GARD:0016645,GARD:0022531,GARD:0019504,,Rare genetic disease +GARD:0016645,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016645,GARD:0022524,GARD:0020385,,Rare neurologic disease +GARD:0016645,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016645,GARD:0022520,GARD:0019504,,Rare ophthalmic disorder +GARD:0016645,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0016645,GARD:0022531,GARD:0019925,,Rare genetic disease +GARD:0016645,GARD:0022524,GARD:0019415,,Rare neurologic disease +GARD:0016645,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016645,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0016645,GARD:0022531,GARD:0019415,,Rare genetic disease +GARD:0016646,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0016646,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016646,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0016646,GARD:0022510,GARD:0012597,,Rare skin disease +GARD:0016646,GARD:0022513,GARD:0019202,,Rare developmental defect during embryogenesis +GARD:0016646,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016646,GARD:0022531,GARD:0019202,,Rare genetic disease +GARD:0016646,GARD:0022513,GARD:0019197,,Rare developmental defect during embryogenesis +GARD:0016646,GARD:0022531,GARD:0019197,,Rare genetic disease +GARD:0016646,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016646,GARD:0022531,GARD:0012597,,Rare genetic disease +GARD:0016646,GARD:0022521,GARD:0012597,,Rare endocrine disease +GARD:0016646,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0016646,GARD:0022511,GARD:0019197,,Rare bone disease +GARD:0016646,GARD:0022511,GARD:0019202,,Rare bone disease +GARD:0016646,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0016646,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0016647,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0016647,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0016647,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0016647,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0016648,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016648,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0016648,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016648,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0016648,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0016648,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016648,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0016648,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0016649,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0016649,GARD:0022510,GARD:0021293,,Rare skin disease +GARD:0016649,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0016649,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0016649,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0016649,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0016649,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0016649,GARD:0022531,GARD:0021293,,Rare genetic disease +GARD:0016649,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0016649,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0016650,GARD:0022515,GARD:0019785,GARD:0018633,Rare cardiac disease +GARD:0016650,GARD:0022531,GARD:0019785,GARD:0018635,Rare genetic disease +GARD:0016650,GARD:0022515,GARD:0019785,GARD:0018634,Rare cardiac disease +GARD:0016650,GARD:0022531,GARD:0019785,GARD:0018634,Rare genetic disease +GARD:0016650,GARD:0022531,GARD:0019785,GARD:0018633,Rare genetic disease +GARD:0016650,GARD:0022515,GARD:0019785,GARD:0018635,Rare cardiac disease +GARD:0016651,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0016651,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0016652,GARD:0022520,GARD:0022094,,Rare ophthalmic disorder +GARD:0016652,GARD:0022517,GARD:0021036,,Rare respiratory disease +GARD:0016652,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0016652,GARD:0022531,GARD:0022094,,Rare genetic disease +GARD:0016652,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0016653,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0016653,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0016653,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0016654,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0016654,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0016654,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0016655,GARD:0022520,GARD:0022099,,Rare ophthalmic disorder +GARD:0016655,GARD:0022531,GARD:0022099,,Rare genetic disease +GARD:0016656,GARD:0022524,GARD:0020340,,Rare neurologic disease +GARD:0016656,GARD:0022531,GARD:0020340,,Rare genetic disease +GARD:0016657,GARD:0022513,GARD:0016857,GARD:0018050,Rare developmental defect during embryogenesis +GARD:0016657,GARD:0022531,GARD:0020298,GARD:0018050,Rare genetic disease +GARD:0016657,GARD:0022531,GARD:0019515,GARD:0018049,Rare genetic disease +GARD:0016657,GARD:0022520,GARD:0019515,GARD:0018050,Rare ophthalmic disorder +GARD:0016657,GARD:0022520,GARD:0022087,GARD:0018050,Rare ophthalmic disorder +GARD:0016657,GARD:0022513,GARD:0016857,GARD:0018049,Rare developmental defect during embryogenesis +GARD:0016657,GARD:0022520,GARD:0019515,GARD:0018049,Rare ophthalmic disorder +GARD:0016657,GARD:0022531,GARD:0020298,GARD:0018049,Rare genetic disease +GARD:0016657,GARD:0022531,GARD:0022174,GARD:0018049,Rare genetic disease +GARD:0016657,GARD:0022520,GARD:0022087,GARD:0018049,Rare ophthalmic disorder +GARD:0016657,GARD:0022531,GARD:0022174,GARD:0018050,Rare genetic disease +GARD:0016657,GARD:0022531,GARD:0019515,GARD:0018050,Rare genetic disease +GARD:0016658,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0016658,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0016659,GARD:0022536,GARD:0022061,GARD:0009430,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016659,GARD:0022512,GARD:0019227,GARD:0004607,Rare renal disease +GARD:0016659,GARD:0022536,GARD:0022061,GARD:0004607,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016659,GARD:0022512,GARD:0019227,GARD:0009430,Rare renal disease +GARD:0016659,GARD:0022522,GARD:0020679,GARD:0004607,Rare hematologic disease +GARD:0016659,GARD:0022522,GARD:0020679,GARD:0009430,Rare hematologic disease +GARD:0016660,GARD:0022535,GARD:0018892,,Rare neoplastic disease +GARD:0016660,GARD:0022511,GARD:0018892,,Rare bone disease +GARD:0016661,GARD:0022524,GARD:0020571,,Rare neurologic disease +GARD:0016662,GARD:0022511,GARD:0019206,GARD:0018052,Rare bone disease +GARD:0016662,GARD:0022513,GARD:0019206,GARD:0018051,Rare developmental defect during embryogenesis +GARD:0016662,GARD:0022531,GARD:0020294,GARD:0018051,Rare genetic disease +GARD:0016662,GARD:0022513,GARD:0019206,GARD:0018053,Rare developmental defect during embryogenesis +GARD:0016662,GARD:0022513,GARD:0019390,GARD:0018051,Rare developmental defect during embryogenesis +GARD:0016662,GARD:0022531,GARD:0019206,GARD:0018052,Rare genetic disease +GARD:0016662,GARD:0022531,GARD:0020294,GARD:0018053,Rare genetic disease +GARD:0016662,GARD:0022531,GARD:0019206,GARD:0018051,Rare genetic disease +GARD:0016662,GARD:0022531,GARD:0019206,GARD:0018053,Rare genetic disease +GARD:0016662,GARD:0022513,GARD:0019390,GARD:0018052,Rare developmental defect during embryogenesis +GARD:0016662,GARD:0022513,GARD:0019206,GARD:0018052,Rare developmental defect during embryogenesis +GARD:0016662,GARD:0022511,GARD:0019206,GARD:0018051,Rare bone disease +GARD:0016662,GARD:0022531,GARD:0020294,GARD:0018052,Rare genetic disease +GARD:0016662,GARD:0022511,GARD:0019206,GARD:0018053,Rare bone disease +GARD:0016662,GARD:0022513,GARD:0019390,GARD:0018053,Rare developmental defect during embryogenesis +GARD:0016663,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0016664,GARD:0022531,GARD:0020007,GARD:0018055,Rare genetic disease +GARD:0016664,GARD:0022517,GARD:0019793,GARD:0018055,Rare respiratory disease +GARD:0016664,GARD:0022531,GARD:0020007,GARD:0018056,Rare genetic disease +GARD:0016664,GARD:0022517,GARD:0019793,GARD:0018056,Rare respiratory disease +GARD:0016664,GARD:0022517,GARD:0019793,GARD:0018054,Rare respiratory disease +GARD:0016664,GARD:0022531,GARD:0020007,GARD:0018054,Rare genetic disease +GARD:0016665,GARD:0022532,GARD:0019148,,Rare urogenital disease +GARD:0016665,GARD:0022536,GARD:0019150,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016665,GARD:0022513,GARD:0019148,,Rare developmental defect during embryogenesis +GARD:0016665,GARD:0022531,GARD:0001467,,Rare genetic disease +GARD:0016665,GARD:0022531,GARD:0005826,,Rare genetic disease +GARD:0016665,GARD:0022514,GARD:0019150,,Rare gynecologic or obstetric disease +GARD:0016665,GARD:0022513,GARD:0019150,,Rare developmental defect during embryogenesis +GARD:0016665,GARD:0022531,GARD:0019148,,Rare genetic disease +GARD:0016665,GARD:0022521,GARD:0019148,,Rare endocrine disease +GARD:0016665,GARD:0022511,GARD:0005826,,Rare bone disease +GARD:0016665,GARD:0022531,GARD:0019150,,Rare genetic disease +GARD:0016665,GARD:0022532,GARD:0019150,,Rare urogenital disease +GARD:0016665,GARD:0022513,GARD:0005826,,Rare developmental defect during embryogenesis +GARD:0016665,GARD:0022521,GARD:0001467,,Rare endocrine disease +GARD:0016665,GARD:0022514,GARD:0019148,,Rare gynecologic or obstetric disease +GARD:0016665,GARD:0022524,GARD:0005826,,Rare neurologic disease +GARD:0016665,GARD:0022521,GARD:0019150,,Rare endocrine disease +GARD:0016666,GARD:0022524,GARD:0020361,,Rare neurologic disease +GARD:0016666,GARD:0022531,GARD:0020361,,Rare genetic disease +GARD:0016667,GARD:0022531,GARD:0019574,GARD:0018058,Rare genetic disease +GARD:0016667,GARD:0022531,GARD:0002173,GARD:0018057,Rare genetic disease +GARD:0016667,GARD:0022531,GARD:0019574,GARD:0018061,Rare genetic disease +GARD:0016667,GARD:0022531,GARD:0002173,GARD:0018061,Rare genetic disease +GARD:0016667,GARD:0022531,GARD:0002173,GARD:0018060,Rare genetic disease +GARD:0016667,GARD:0022531,GARD:0019574,GARD:0018057,Rare genetic disease +GARD:0016667,GARD:0022524,GARD:0002173,GARD:0018061,Rare neurologic disease +GARD:0016667,GARD:0022524,GARD:0002173,GARD:0018058,Rare neurologic disease +GARD:0016667,GARD:0022531,GARD:0019574,GARD:0018060,Rare genetic disease +GARD:0016667,GARD:0022531,GARD:0019570,GARD:0018059,Rare genetic disease +GARD:0016667,GARD:0022524,GARD:0002173,GARD:0018059,Rare neurologic disease +GARD:0016667,GARD:0022524,GARD:0002173,GARD:0018060,Rare neurologic disease +GARD:0016667,GARD:0022531,GARD:0002173,GARD:0018059,Rare genetic disease +GARD:0016667,GARD:0022531,GARD:0019570,GARD:0018061,Rare genetic disease +GARD:0016667,GARD:0022531,GARD:0019574,GARD:0018059,Rare genetic disease +GARD:0016667,GARD:0022531,GARD:0019570,GARD:0018058,Rare genetic disease +GARD:0016667,GARD:0022531,GARD:0019570,GARD:0018057,Rare genetic disease +GARD:0016667,GARD:0022531,GARD:0019570,GARD:0018060,Rare genetic disease +GARD:0016667,GARD:0022531,GARD:0002173,GARD:0018058,Rare genetic disease +GARD:0016667,GARD:0022524,GARD:0002173,GARD:0018057,Rare neurologic disease +GARD:0016668,GARD:0022514,GARD:0020207,,Rare gynecologic or obstetric disease +GARD:0016668,GARD:0022531,GARD:0020323,,Rare genetic disease +GARD:0016669,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0016669,GARD:0022508,GARD:0018967,,Rare inborn errors of metabolism +GARD:0016669,GARD:0022524,GARD:0020557,,Rare neurologic disease +GARD:0016669,GARD:0022531,GARD:0020557,,Rare genetic disease +GARD:0016669,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0016669,GARD:0022531,GARD:0018967,,Rare genetic disease +GARD:0016670,GARD:0022521,GARD:0018682,,Rare endocrine disease +GARD:0016670,GARD:0022531,GARD:0018682,,Rare genetic disease +GARD:0016670,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0016670,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0016670,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0016671,GARD:0022513,GARD:0020982,GARD:0020983,Rare developmental defect during embryogenesis +GARD:0016671,GARD:0022524,GARD:0020982,GARD:0010190,Rare neurologic disease +GARD:0016671,GARD:0022531,GARD:0020982,GARD:0020983,Rare genetic disease +GARD:0016671,GARD:0022531,GARD:0020982,GARD:0010190,Rare genetic disease +GARD:0016671,GARD:0022524,GARD:0020982,GARD:0020983,Rare neurologic disease +GARD:0016671,GARD:0022513,GARD:0020982,GARD:0010190,Rare developmental defect during embryogenesis +GARD:0016672,GARD:0022513,GARD:0000786,,Rare developmental defect during embryogenesis +GARD:0016672,GARD:0022531,GARD:0000786,,Rare genetic disease +GARD:0016673,GARD:0022531,GARD:0021725,,Rare genetic disease +GARD:0016673,GARD:0022513,GARD:0021571,,Rare developmental defect during embryogenesis +GARD:0016673,GARD:0022511,GARD:0021571,,Rare bone disease +GARD:0016674,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0016674,GARD:0022513,GARD:0019193,,Rare developmental defect during embryogenesis +GARD:0016674,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0016674,GARD:0022511,GARD:0019193,,Rare bone disease +GARD:0016674,GARD:0022531,GARD:0019193,,Rare genetic disease +GARD:0016674,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0016675,GARD:0022536,GARD:0007065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016675,GARD:0022520,GARD:0007065,,Rare ophthalmic disorder +GARD:0016675,GARD:0022508,GARD:0007065,,Rare inborn errors of metabolism +GARD:0016675,GARD:0022531,GARD:0019203,,Rare genetic disease +GARD:0016675,GARD:0022531,GARD:0007065,,Rare genetic disease +GARD:0016675,GARD:0022513,GARD:0007065,,Rare developmental defect during embryogenesis +GARD:0016675,GARD:0022511,GARD:0007065,,Rare bone disease +GARD:0016675,GARD:0022511,GARD:0019203,,Rare bone disease +GARD:0016676,GARD:0022531,GARD:0001999,,Rare genetic disease +GARD:0016676,GARD:0022531,GARD:0020539,,Rare genetic disease +GARD:0016676,GARD:0022522,GARD:0020539,,Rare hematologic disease +GARD:0016676,GARD:0022522,GARD:0001999,,Rare hematologic disease +GARD:0016677,GARD:0022531,GARD:0003921,,Rare genetic disease +GARD:0016677,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0016677,GARD:0022521,GARD:0003921,,Rare endocrine disease +GARD:0016677,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0016678,GARD:0022536,GARD:0021539,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016678,GARD:0022512,GARD:0021539,,Rare renal disease +GARD:0016679,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0016679,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0016679,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0016679,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0016679,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0016679,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0016680,GARD:0022510,GARD:0006317,GARD:0018064,Rare skin disease +GARD:0016680,GARD:0022513,GARD:0006317,GARD:0018065,Rare developmental defect during embryogenesis +GARD:0016680,GARD:0022510,GARD:0006317,GARD:0018066,Rare skin disease +GARD:0016680,GARD:0022531,GARD:0006317,GARD:0018066,Rare genetic disease +GARD:0016680,GARD:0022513,GARD:0006317,GARD:0018064,Rare developmental defect during embryogenesis +GARD:0016680,GARD:0022513,GARD:0006317,GARD:0018062,Rare developmental defect during embryogenesis +GARD:0016680,GARD:0022531,GARD:0006317,GARD:0018064,Rare genetic disease +GARD:0016680,GARD:0022531,GARD:0006317,GARD:0018065,Rare genetic disease +GARD:0016680,GARD:0022513,GARD:0006317,GARD:0018066,Rare developmental defect during embryogenesis +GARD:0016680,GARD:0022510,GARD:0006317,GARD:0018063,Rare skin disease +GARD:0016680,GARD:0022513,GARD:0006317,GARD:0018063,Rare developmental defect during embryogenesis +GARD:0016680,GARD:0022510,GARD:0006317,GARD:0018065,Rare skin disease +GARD:0016680,GARD:0022531,GARD:0006317,GARD:0018063,Rare genetic disease +GARD:0016680,GARD:0022510,GARD:0006317,GARD:0018062,Rare skin disease +GARD:0016680,GARD:0022531,GARD:0006317,GARD:0018062,Rare genetic disease +GARD:0016681,GARD:0022531,GARD:0021510,,Rare genetic disease +GARD:0016681,GARD:0022527,GARD:0022298,,Rare circulatory system disease +GARD:0016681,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0016681,GARD:0022510,GARD:0022298,,Rare skin disease +GARD:0016681,GARD:0022523,GARD:0021510,,Rare immune disease +GARD:0016681,GARD:0022531,GARD:0022298,,Rare genetic disease +GARD:0016681,GARD:0022513,GARD:0022298,,Rare developmental defect during embryogenesis +GARD:0016681,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0016681,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016681,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0016681,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0016681,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0016681,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0016682,GARD:0022531,GARD:0019001,,Rare genetic disease +GARD:0016682,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0016682,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0016682,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0016682,GARD:0022510,GARD:0019001,,Rare skin disease +GARD:0016683,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0016683,GARD:0022531,GARD:0020006,,Rare genetic disease +GARD:0016684,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0016684,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0016684,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0016684,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016684,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0016684,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0016684,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016684,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016684,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0016685,GARD:0022524,GARD:0006877,GARD:0018067,Rare neurologic disease +GARD:0016685,GARD:0022524,GARD:0006877,GARD:0016316,Rare neurologic disease +GARD:0016685,GARD:0022531,GARD:0022440,GARD:0018067,Rare genetic disease +GARD:0016685,GARD:0022524,GARD:0022440,GARD:0018067,Rare neurologic disease +GARD:0016685,GARD:0022508,GARD:0006877,GARD:0018067,Rare inborn errors of metabolism +GARD:0016685,GARD:0022508,GARD:0006877,GARD:0016316,Rare inborn errors of metabolism +GARD:0016685,GARD:0022531,GARD:0006877,GARD:0016316,Rare genetic disease +GARD:0016685,GARD:0022531,GARD:0022440,GARD:0016316,Rare genetic disease +GARD:0016685,GARD:0022524,GARD:0022440,GARD:0016316,Rare neurologic disease +GARD:0016685,GARD:0022520,GARD:0006877,GARD:0018067,Rare ophthalmic disorder +GARD:0016685,GARD:0022520,GARD:0006877,GARD:0016316,Rare ophthalmic disorder +GARD:0016685,GARD:0022531,GARD:0006877,GARD:0018067,Rare genetic disease +GARD:0016686,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0016686,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0016686,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0016686,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0016686,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0016686,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0016686,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0016686,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0016686,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0016686,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0016686,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0016687,GARD:0022531,GARD:0021967,GARD:0018068,Rare genetic disease +GARD:0016687,GARD:0022513,GARD:0019212,GARD:0018069,Rare developmental defect during embryogenesis +GARD:0016687,GARD:0022531,GARD:0021967,GARD:0018069,Rare genetic disease +GARD:0016687,GARD:0022522,GARD:0021967,GARD:0018069,Rare hematologic disease +GARD:0016687,GARD:0022522,GARD:0021967,GARD:0018068,Rare hematologic disease +GARD:0016687,GARD:0022511,GARD:0019212,GARD:0018069,Rare bone disease +GARD:0016687,GARD:0022511,GARD:0019212,GARD:0018068,Rare bone disease +GARD:0016687,GARD:0022531,GARD:0019212,GARD:0018069,Rare genetic disease +GARD:0016687,GARD:0022513,GARD:0019212,GARD:0018068,Rare developmental defect during embryogenesis +GARD:0016687,GARD:0022531,GARD:0019212,GARD:0018068,Rare genetic disease +GARD:0016688,GARD:0022531,GARD:0020680,,Rare genetic disease +GARD:0016688,GARD:0022522,GARD:0020680,,Rare hematologic disease +GARD:0016689,GARD:0022529,GARD:0020220,,Rare infertility +GARD:0016689,GARD:0022521,GARD:0020169,,Rare endocrine disease +GARD:0016689,GARD:0022531,GARD:0020220,,Rare genetic disease +GARD:0016689,GARD:0022531,GARD:0020169,,Rare genetic disease +GARD:0016689,GARD:0022521,GARD:0020220,,Rare endocrine disease +GARD:0016689,GARD:0022514,GARD:0020220,,Rare gynecologic or obstetric disease +GARD:0016690,GARD:0022521,GARD:0020169,,Rare endocrine disease +GARD:0016690,GARD:0022531,GARD:0020169,,Rare genetic disease +GARD:0016691,GARD:0022531,GARD:0021020,GARD:0016868,Rare genetic disease +GARD:0016691,GARD:0022522,GARD:0021020,GARD:0013293,Rare hematologic disease +GARD:0016691,GARD:0022522,GARD:0021020,GARD:0016868,Rare hematologic disease +GARD:0016691,GARD:0022531,GARD:0021020,GARD:0013293,Rare genetic disease +GARD:0016692,GARD:0022515,GARD:0020532,GARD:0018071,Rare cardiac disease +GARD:0016692,GARD:0022515,GARD:0020532,GARD:0018072,Rare cardiac disease +GARD:0016692,GARD:0022536,GARD:0022065,GARD:0018072,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016692,GARD:0022531,GARD:0020532,GARD:0018072,Rare genetic disease +GARD:0016692,GARD:0022531,GARD:0020532,GARD:0018070,Rare genetic disease +GARD:0016692,GARD:0022531,GARD:0020532,GARD:0018071,Rare genetic disease +GARD:0016692,GARD:0022536,GARD:0022065,GARD:0018070,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016692,GARD:0022536,GARD:0022065,GARD:0018071,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016692,GARD:0022515,GARD:0020532,GARD:0018070,Rare cardiac disease +GARD:0016693,GARD:0022531,GARD:0021963,,Rare genetic disease +GARD:0016693,GARD:0022524,GARD:0021963,,Rare neurologic disease +GARD:0016694,GARD:0022531,GARD:0022097,,Rare genetic disease +GARD:0016694,GARD:0022520,GARD:0022097,,Rare ophthalmic disorder +GARD:0016695,GARD:0022523,GARD:0020114,,Rare immune disease +GARD:0016695,GARD:0022536,GARD:0020114,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016695,GARD:0022531,GARD:0020114,,Rare genetic disease +GARD:0016696,GARD:0022535,GARD:0003065,,Rare neoplastic disease +GARD:0016696,GARD:0022536,GARD:0003065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016696,GARD:0022531,GARD:0020830,,Rare genetic disease +GARD:0016696,GARD:0022531,GARD:0003065,,Rare genetic disease +GARD:0016696,GARD:0022513,GARD:0020830,,Rare developmental defect during embryogenesis +GARD:0016696,GARD:0022516,GARD:0003065,,Rare gastroenterologic disease +GARD:0016697,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016697,GARD:0022531,GARD:0019905,,Rare genetic disease +GARD:0016697,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016697,GARD:0022513,GARD:0019905,,Rare developmental defect during embryogenesis +GARD:0016697,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0016697,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0016697,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016698,GARD:0022513,GARD:0019192,,Rare developmental defect during embryogenesis +GARD:0016698,GARD:0022513,GARD:0019202,,Rare developmental defect during embryogenesis +GARD:0016698,GARD:0022511,GARD:0019192,,Rare bone disease +GARD:0016698,GARD:0022531,GARD:0019202,,Rare genetic disease +GARD:0016698,GARD:0022511,GARD:0019202,,Rare bone disease +GARD:0016698,GARD:0022531,GARD:0019192,,Rare genetic disease +GARD:0016699,GARD:0022512,GARD:0019228,,Rare renal disease +GARD:0016699,GARD:0022531,GARD:0019228,,Rare genetic disease +GARD:0016700,GARD:0022536,GARD:0013337,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016700,GARD:0022517,GARD:0013337,,Rare respiratory disease +GARD:0016701,GARD:0022521,GARD:0018682,,Rare endocrine disease +GARD:0016701,GARD:0022531,GARD:0020083,,Rare genetic disease +GARD:0016701,GARD:0022524,GARD:0020083,,Rare neurologic disease +GARD:0016701,GARD:0022531,GARD:0018682,,Rare genetic disease +GARD:0016702,GARD:0022531,GARD:0020457,,Rare genetic disease +GARD:0016702,GARD:0022524,GARD:0020457,,Rare neurologic disease +GARD:0016703,GARD:0022524,GARD:0020457,,Rare neurologic disease +GARD:0016703,GARD:0022531,GARD:0020457,,Rare genetic disease +GARD:0016704,GARD:0022531,GARD:0002173,,Rare genetic disease +GARD:0016704,GARD:0022531,GARD:0019571,,Rare genetic disease +GARD:0016704,GARD:0022524,GARD:0002173,,Rare neurologic disease +GARD:0016705,GARD:0022531,GARD:0021295,,Rare genetic disease +GARD:0016705,GARD:0022510,GARD:0021295,,Rare skin disease +GARD:0016706,GARD:0022531,GARD:0020270,GARD:0018074,Rare genetic disease +GARD:0016706,GARD:0022510,GARD:0019004,GARD:0018073,Rare skin disease +GARD:0016706,GARD:0022510,GARD:0019004,GARD:0018074,Rare skin disease +GARD:0016706,GARD:0022531,GARD:0020270,GARD:0018073,Rare genetic disease +GARD:0016707,GARD:0022510,GARD:0018987,,Rare skin disease +GARD:0016707,GARD:0022531,GARD:0020263,,Rare genetic disease +GARD:0016708,GARD:0022531,GARD:0021155,,Rare genetic disease +GARD:0016708,GARD:0022508,GARD:0021155,,Rare inborn errors of metabolism +GARD:0016709,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016709,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016709,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016709,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0016709,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0016709,GARD:0022531,GARD:0021155,,Rare genetic disease +GARD:0016709,GARD:0022508,GARD:0021155,,Rare inborn errors of metabolism +GARD:0016710,GARD:0022522,GARD:0002943,,Rare hematologic disease +GARD:0016710,GARD:0022508,GARD:0002943,,Rare inborn errors of metabolism +GARD:0016710,GARD:0022524,GARD:0002943,,Rare neurologic disease +GARD:0016710,GARD:0022512,GARD:0002943,,Rare renal disease +GARD:0016710,GARD:0022536,GARD:0002943,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016710,GARD:0022531,GARD:0002943,,Rare genetic disease +GARD:0016711,GARD:0022531,GARD:0020370,,Rare genetic disease +GARD:0016711,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0016711,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0016711,GARD:0022508,GARD:0018691,,Rare inborn errors of metabolism +GARD:0016711,GARD:0022531,GARD:0018691,,Rare genetic disease +GARD:0016711,GARD:0022524,GARD:0020370,,Rare neurologic disease +GARD:0016712,GARD:0022524,GARD:0007513,,Rare neurologic disease +GARD:0016712,GARD:0022531,GARD:0007513,,Rare genetic disease +GARD:0016712,GARD:0022508,GARD:0007513,,Rare inborn errors of metabolism +GARD:0016713,GARD:0022536,GARD:0021996,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016713,GARD:0022508,GARD:0021996,,Rare inborn errors of metabolism +GARD:0016713,GARD:0022531,GARD:0021996,,Rare genetic disease +GARD:0016713,GARD:0022506,GARD:0021996,,Rare hepatic disease +GARD:0016714,GARD:0022508,GARD:0003586,,Rare inborn errors of metabolism +GARD:0016714,GARD:0022531,GARD:0003586,,Rare genetic disease +GARD:0016714,GARD:0022536,GARD:0003586,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016714,GARD:0022512,GARD:0003586,,Rare renal disease +GARD:0016715,GARD:0022531,GARD:0018679,,Rare genetic disease +GARD:0016715,GARD:0022511,GARD:0018679,,Rare bone disease +GARD:0016715,GARD:0022513,GARD:0018679,,Rare developmental defect during embryogenesis +GARD:0016716,GARD:0022531,GARD:0018679,,Rare genetic disease +GARD:0016716,GARD:0022511,GARD:0018679,,Rare bone disease +GARD:0016716,GARD:0022513,GARD:0018679,,Rare developmental defect during embryogenesis +GARD:0016717,GARD:0022531,GARD:0022334,,Rare genetic disease +GARD:0016717,GARD:0022508,GARD:0022334,,Rare inborn errors of metabolism +GARD:0016717,GARD:0022524,GARD:0022334,,Rare neurologic disease +GARD:0016718,GARD:0022531,GARD:0022334,,Rare genetic disease +GARD:0016718,GARD:0022508,GARD:0022334,,Rare inborn errors of metabolism +GARD:0016718,GARD:0022524,GARD:0022334,,Rare neurologic disease +GARD:0016719,GARD:0022510,GARD:0021104,,Rare skin disease +GARD:0016719,GARD:0022510,GARD:0021292,,Rare skin disease +GARD:0016719,GARD:0022531,GARD:0021292,,Rare genetic disease +GARD:0016719,GARD:0022531,GARD:0021104,,Rare genetic disease +GARD:0016720,GARD:0022513,GARD:0002150,,Rare developmental defect during embryogenesis +GARD:0016720,GARD:0022531,GARD:0002150,,Rare genetic disease +GARD:0016720,GARD:0022510,GARD:0002150,,Rare skin disease +GARD:0016721,GARD:0022520,GARD:0004037,,Rare ophthalmic disorder +GARD:0016721,GARD:0022508,GARD:0004037,,Rare inborn errors of metabolism +GARD:0016721,GARD:0022510,GARD:0004037,,Rare skin disease +GARD:0016721,GARD:0022531,GARD:0004037,,Rare genetic disease +GARD:0016722,GARD:0022510,GARD:0010958,,Rare skin disease +GARD:0016722,GARD:0022531,GARD:0010958,,Rare genetic disease +GARD:0016722,GARD:0022508,GARD:0010958,,Rare inborn errors of metabolism +GARD:0016722,GARD:0022520,GARD:0010958,,Rare ophthalmic disorder +GARD:0016722,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0016722,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0016723,GARD:0022510,GARD:0007842,GARD:0020034,Rare skin disease +GARD:0016723,GARD:0022510,GARD:0007842,GARD:0019136,Rare skin disease +GARD:0016723,GARD:0022522,GARD:0007842,GARD:0020035,Rare hematologic disease +GARD:0016723,GARD:0022522,GARD:0007842,GARD:0019136,Rare hematologic disease +GARD:0016723,GARD:0022510,GARD:0007842,GARD:0020035,Rare skin disease +GARD:0016723,GARD:0022510,GARD:0007842,GARD:0020033,Rare skin disease +GARD:0016723,GARD:0022535,GARD:0007842,GARD:0020035,Rare neoplastic disease +GARD:0016723,GARD:0022535,GARD:0007842,GARD:0019136,Rare neoplastic disease +GARD:0016723,GARD:0022522,GARD:0007842,GARD:0020033,Rare hematologic disease +GARD:0016723,GARD:0022522,GARD:0007842,GARD:0020034,Rare hematologic disease +GARD:0016723,GARD:0022535,GARD:0007842,GARD:0020034,Rare neoplastic disease +GARD:0016723,GARD:0022535,GARD:0007842,GARD:0020033,Rare neoplastic disease +GARD:0016724,GARD:0022521,GARD:0020230,GARD:0018076,Rare endocrine disease +GARD:0016724,GARD:0022508,GARD:0020230,GARD:0018076,Rare inborn errors of metabolism +GARD:0016724,GARD:0022521,GARD:0020230,GARD:0018075,Rare endocrine disease +GARD:0016724,GARD:0022531,GARD:0020230,GARD:0018075,Rare genetic disease +GARD:0016724,GARD:0022508,GARD:0020230,GARD:0018075,Rare inborn errors of metabolism +GARD:0016724,GARD:0022531,GARD:0020230,GARD:0018076,Rare genetic disease +GARD:0016725,GARD:0022508,GARD:0019152,,Rare inborn errors of metabolism +GARD:0016725,GARD:0022531,GARD:0019152,,Rare genetic disease +GARD:0016726,GARD:0022521,GARD:0020068,,Rare endocrine disease +GARD:0016726,GARD:0022513,GARD:0020068,,Rare developmental defect during embryogenesis +GARD:0016726,GARD:0022531,GARD:0020068,,Rare genetic disease +GARD:0016727,GARD:0022531,GARD:0020068,,Rare genetic disease +GARD:0016727,GARD:0022513,GARD:0020068,,Rare developmental defect during embryogenesis +GARD:0016727,GARD:0022521,GARD:0020068,,Rare endocrine disease +GARD:0016728,GARD:0022527,GARD:0020462,,Rare circulatory system disease +GARD:0016728,GARD:0022513,GARD:0020462,,Rare developmental defect during embryogenesis +GARD:0016728,GARD:0022524,GARD:0019819,,Rare neurologic disease +GARD:0016728,GARD:0022531,GARD:0021924,,Rare genetic disease +GARD:0016728,GARD:0022531,GARD:0021614,,Rare genetic disease +GARD:0016729,GARD:0022531,GARD:0019845,,Rare genetic disease +GARD:0016729,GARD:0022536,GARD:0019845,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016729,GARD:0022516,GARD:0019845,,Rare gastroenterologic disease +GARD:0016730,GARD:0022512,GARD:0019228,GARD:0018080,Rare renal disease +GARD:0016730,GARD:0022531,GARD:0019228,GARD:0018080,Rare genetic disease +GARD:0016730,GARD:0022512,GARD:0019228,GARD:0018081,Rare renal disease +GARD:0016730,GARD:0022531,GARD:0019986,GARD:0018080,Rare genetic disease +GARD:0016730,GARD:0022531,GARD:0019228,GARD:0018081,Rare genetic disease +GARD:0016730,GARD:0022531,GARD:0019986,GARD:0018081,Rare genetic disease +GARD:0016730,GARD:0022536,GARD:0022061,GARD:0018080,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016730,GARD:0022536,GARD:0022061,GARD:0018081,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016731,GARD:0022524,GARD:0019923,,Rare neurologic disease +GARD:0016731,GARD:0022531,GARD:0019923,,Rare genetic disease +GARD:0016732,GARD:0022531,GARD:0020436,,Rare genetic disease +GARD:0016732,GARD:0022524,GARD:0020364,,Rare neurologic disease +GARD:0016732,GARD:0022531,GARD:0020426,,Rare genetic disease +GARD:0016732,GARD:0022531,GARD:0020364,,Rare genetic disease +GARD:0016733,GARD:0022531,GARD:0021293,,Rare genetic disease +GARD:0016733,GARD:0022532,GARD:0021467,,Rare urogenital disease +GARD:0016733,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0016733,GARD:0022521,GARD:0021467,,Rare endocrine disease +GARD:0016733,GARD:0022510,GARD:0021293,,Rare skin disease +GARD:0016733,GARD:0022531,GARD:0021467,,Rare genetic disease +GARD:0016733,GARD:0022513,GARD:0021467,,Rare developmental defect during embryogenesis +GARD:0016733,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0016734,GARD:0022520,GARD:0022099,,Rare ophthalmic disorder +GARD:0016734,GARD:0022531,GARD:0022099,,Rare genetic disease +GARD:0016735,GARD:0022531,GARD:0021577,,Rare genetic disease +GARD:0016735,GARD:0022511,GARD:0022022,,Rare bone disease +GARD:0016735,GARD:0022513,GARD:0022022,,Rare developmental defect during embryogenesis +GARD:0016735,GARD:0022531,GARD:0022022,,Rare genetic disease +GARD:0016736,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0016736,GARD:0022524,GARD:0021450,,Rare neurologic disease +GARD:0016736,GARD:0022513,GARD:0021450,,Rare developmental defect during embryogenesis +GARD:0016736,GARD:0022511,GARD:0019197,,Rare bone disease +GARD:0016736,GARD:0022513,GARD:0019197,,Rare developmental defect during embryogenesis +GARD:0016736,GARD:0022531,GARD:0019197,,Rare genetic disease +GARD:0016736,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0016736,GARD:0022531,GARD:0021450,,Rare genetic disease +GARD:0016737,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0016737,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0016737,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0016738,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0016738,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0016738,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0016739,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0016739,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0016739,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0016740,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016740,GARD:0022531,GARD:0022093,,Rare genetic disease +GARD:0016740,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0016740,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0016740,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016740,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016740,GARD:0022520,GARD:0022109,,Rare ophthalmic disorder +GARD:0016740,GARD:0022531,GARD:0022109,,Rare genetic disease +GARD:0016740,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0016740,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0016740,GARD:0022513,GARD:0022093,,Rare developmental defect during embryogenesis +GARD:0016740,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0016740,GARD:0022520,GARD:0022093,,Rare ophthalmic disorder +GARD:0016741,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0016741,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0016741,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0016742,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016742,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016742,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016742,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0016742,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0016743,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0016743,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0016744,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0016744,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016744,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016744,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0016744,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016745,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016745,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016745,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016746,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016746,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016746,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016747,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0016747,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0016748,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0016748,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0016748,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0016748,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0016749,GARD:0022531,GARD:0010716,,Rare genetic disease +GARD:0016749,GARD:0022524,GARD:0010716,,Rare neurologic disease +GARD:0016749,GARD:0022508,GARD:0010716,,Rare inborn errors of metabolism +GARD:0016750,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016750,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0016750,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016750,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0016750,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0016750,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0016750,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0016750,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016751,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016751,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016751,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016752,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016752,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016752,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016753,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016753,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016753,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016754,GARD:0022515,GARD:0021017,,Rare cardiac disease +GARD:0016754,GARD:0022531,GARD:0021017,,Rare genetic disease +GARD:0016754,GARD:0022531,GARD:0020383,,Rare genetic disease +GARD:0016754,GARD:0022536,GARD:0021017,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016754,GARD:0022524,GARD:0020383,,Rare neurologic disease +GARD:0016754,GARD:0022525,GARD:0021017,,Rare systemic or rheumatologic disease +GARD:0016755,GARD:0022536,GARD:0021017,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016755,GARD:0022525,GARD:0021017,,Rare systemic or rheumatologic disease +GARD:0016755,GARD:0022515,GARD:0021017,,Rare cardiac disease +GARD:0016755,GARD:0022536,GARD:0022065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016755,GARD:0022531,GARD:0021017,,Rare genetic disease +GARD:0016756,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0016756,GARD:0021079,GARD:0021986,,Rare systemic or rheumatological disease of childhood +GARD:0016756,GARD:0022523,GARD:0020117,,Rare immune disease +GARD:0016756,GARD:0022531,GARD:0019521,,Rare genetic disease +GARD:0016756,GARD:0022520,GARD:0019521,,Rare ophthalmic disorder +GARD:0016756,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0016756,GARD:0022531,GARD:0021957,,Rare genetic disease +GARD:0016756,GARD:0022525,GARD:0021957,,Rare systemic or rheumatologic disease +GARD:0016756,GARD:0022531,GARD:0020117,,Rare genetic disease +GARD:0016757,GARD:0022531,GARD:0022096,,Rare genetic disease +GARD:0016757,GARD:0022520,GARD:0022096,,Rare ophthalmic disorder +GARD:0016758,GARD:0022524,GARD:0021275,GARD:0018084,Rare neurologic disease +GARD:0016758,GARD:0022524,GARD:0019438,GARD:0018084,Rare neurologic disease +GARD:0016758,GARD:0022531,GARD:0019438,GARD:0018082,Rare genetic disease +GARD:0016758,GARD:0022524,GARD:0019438,GARD:0018086,Rare neurologic disease +GARD:0016758,GARD:0022531,GARD:0021275,GARD:0018084,Rare genetic disease +GARD:0016758,GARD:0022531,GARD:0021275,GARD:0018083,Rare genetic disease +GARD:0016758,GARD:0022531,GARD:0019438,GARD:0018083,Rare genetic disease +GARD:0016758,GARD:0022531,GARD:0021275,GARD:0018085,Rare genetic disease +GARD:0016758,GARD:0022531,GARD:0021275,GARD:0018086,Rare genetic disease +GARD:0016758,GARD:0022531,GARD:0019438,GARD:0018085,Rare genetic disease +GARD:0016758,GARD:0022524,GARD:0019438,GARD:0018082,Rare neurologic disease +GARD:0016758,GARD:0022524,GARD:0019438,GARD:0018083,Rare neurologic disease +GARD:0016758,GARD:0022531,GARD:0021275,GARD:0018082,Rare genetic disease +GARD:0016758,GARD:0022524,GARD:0021275,GARD:0018083,Rare neurologic disease +GARD:0016758,GARD:0022531,GARD:0019438,GARD:0018086,Rare genetic disease +GARD:0016758,GARD:0022524,GARD:0021275,GARD:0018085,Rare neurologic disease +GARD:0016758,GARD:0022524,GARD:0019438,GARD:0018085,Rare neurologic disease +GARD:0016758,GARD:0022524,GARD:0021275,GARD:0018086,Rare neurologic disease +GARD:0016758,GARD:0022531,GARD:0019438,GARD:0018084,Rare genetic disease +GARD:0016758,GARD:0022524,GARD:0021275,GARD:0018082,Rare neurologic disease +GARD:0016759,GARD:0022520,GARD:0019510,,Rare ophthalmic disorder +GARD:0016759,GARD:0022531,GARD:0019510,,Rare genetic disease +GARD:0016760,GARD:0022531,GARD:0019461,,Rare genetic disease +GARD:0016760,GARD:0022522,GARD:0019461,,Rare hematologic disease +GARD:0016761,GARD:0022513,GARD:0020915,,Rare developmental defect during embryogenesis +GARD:0016761,GARD:0022531,GARD:0020235,,Rare genetic disease +GARD:0016761,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016761,GARD:0022531,GARD:0020915,,Rare genetic disease +GARD:0016761,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016761,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016761,GARD:0022522,GARD:0020235,,Rare hematologic disease +GARD:0016762,GARD:0022531,GARD:0021987,,Rare genetic disease +GARD:0016762,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0016763,GARD:0022531,GARD:0019821,,Rare genetic disease +GARD:0016763,GARD:0022524,GARD:0019821,,Rare neurologic disease +GARD:0016763,GARD:0022513,GARD:0019821,,Rare developmental defect during embryogenesis +GARD:0016764,GARD:0022522,GARD:0009319,,Rare hematologic disease +GARD:0016764,GARD:0022536,GARD:0009319,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016764,GARD:0022535,GARD:0009319,,Rare neoplastic disease +GARD:0016765,GARD:0022522,GARD:0008317,,Rare hematologic disease +GARD:0016765,GARD:0022536,GARD:0008317,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016765,GARD:0022535,GARD:0008317,,Rare neoplastic disease +GARD:0016766,GARD:0022531,GARD:0019448,,Rare genetic disease +GARD:0016766,GARD:0022510,GARD:0019448,,Rare skin disease +GARD:0016767,GARD:0022510,GARD:0019450,,Rare skin disease +GARD:0016767,GARD:0022531,GARD:0019450,,Rare genetic disease +GARD:0016768,GARD:0022531,GARD:0019537,,Rare genetic disease +GARD:0016768,GARD:0022520,GARD:0019537,,Rare ophthalmic disorder +GARD:0016769,GARD:0022531,GARD:0019194,,Rare genetic disease +GARD:0016769,GARD:0022511,GARD:0019194,,Rare bone disease +GARD:0016769,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0016769,GARD:0022513,GARD:0019194,,Rare developmental defect during embryogenesis +GARD:0016769,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0016769,GARD:0022531,GARD:0019190,,Rare genetic disease +GARD:0016770,GARD:0022524,GARD:0020358,,Rare neurologic disease +GARD:0016770,GARD:0022531,GARD:0020358,,Rare genetic disease +GARD:0016770,GARD:0022531,GARD:0020438,,Rare genetic disease +GARD:0016771,GARD:0022521,GARD:0020219,GARD:0018088,Rare endocrine disease +GARD:0016771,GARD:0022531,GARD:0021140,GARD:0018087,Rare genetic disease +GARD:0016771,GARD:0022521,GARD:0020219,GARD:0018624,Rare endocrine disease +GARD:0016771,GARD:0022514,GARD:0020219,GARD:0018624,Rare gynecologic or obstetric disease +GARD:0016771,GARD:0022521,GARD:0020219,GARD:0018087,Rare endocrine disease +GARD:0016771,GARD:0022531,GARD:0020219,GARD:0018624,Rare genetic disease +GARD:0016771,GARD:0022531,GARD:0021140,GARD:0018624,Rare genetic disease +GARD:0016771,GARD:0022529,GARD:0020219,GARD:0018087,Rare infertility +GARD:0016771,GARD:0022531,GARD:0022440,GARD:0018088,Rare genetic disease +GARD:0016771,GARD:0022524,GARD:0022440,GARD:0018624,Rare neurologic disease +GARD:0016771,GARD:0022531,GARD:0022440,GARD:0018087,Rare genetic disease +GARD:0016771,GARD:0022524,GARD:0021140,GARD:0018087,Rare neurologic disease +GARD:0016771,GARD:0022529,GARD:0020219,GARD:0018624,Rare infertility +GARD:0016771,GARD:0022514,GARD:0020219,GARD:0018088,Rare gynecologic or obstetric disease +GARD:0016771,GARD:0022531,GARD:0020219,GARD:0018088,Rare genetic disease +GARD:0016771,GARD:0022524,GARD:0021140,GARD:0018088,Rare neurologic disease +GARD:0016771,GARD:0022524,GARD:0022440,GARD:0018088,Rare neurologic disease +GARD:0016771,GARD:0022531,GARD:0022440,GARD:0018624,Rare genetic disease +GARD:0016771,GARD:0022514,GARD:0020219,GARD:0018087,Rare gynecologic or obstetric disease +GARD:0016771,GARD:0022531,GARD:0021140,GARD:0018088,Rare genetic disease +GARD:0016771,GARD:0022529,GARD:0020219,GARD:0018088,Rare infertility +GARD:0016771,GARD:0022524,GARD:0021140,GARD:0018624,Rare neurologic disease +GARD:0016771,GARD:0022524,GARD:0022440,GARD:0018087,Rare neurologic disease +GARD:0016771,GARD:0022531,GARD:0020219,GARD:0018087,Rare genetic disease +GARD:0016772,GARD:0022512,GARD:0020010,,Rare renal disease +GARD:0016772,GARD:0022527,GARD:0020010,,Rare circulatory system disease +GARD:0016772,GARD:0022531,GARD:0020010,,Rare genetic disease +GARD:0016772,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016773,GARD:0022536,GARD:0021786,GARD:0006608,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016773,GARD:0022506,GARD:0021786,GARD:0006608,Rare hepatic disease +GARD:0016773,GARD:0022536,GARD:0021786,GARD:0009331,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016773,GARD:0022535,GARD:0021786,GARD:0006608,Rare neoplastic disease +GARD:0016773,GARD:0022535,GARD:0021786,GARD:0009331,Rare neoplastic disease +GARD:0016773,GARD:0022506,GARD:0021786,GARD:0009331,Rare hepatic disease +GARD:0016774,GARD:0022536,GARD:0005785,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016774,GARD:0022531,GARD:0005785,,Rare genetic disease +GARD:0016774,GARD:0022513,GARD:0005785,,Rare developmental defect during embryogenesis +GARD:0016774,GARD:0022528,GARD:0005785,,Rare otorhinolaryngologic disease +GARD:0016774,GARD:0022512,GARD:0005785,,Rare renal disease +GARD:0016774,GARD:0022520,GARD:0005785,,Rare ophthalmic disorder +GARD:0016775,GARD:0022527,GARD:0004553,,Rare circulatory system disease +GARD:0016775,GARD:0022536,GARD:0004553,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016775,GARD:0022512,GARD:0004553,,Rare renal disease +GARD:0016775,GARD:0022531,GARD:0004553,,Rare genetic disease +GARD:0016776,GARD:0022527,GARD:0004553,,Rare circulatory system disease +GARD:0016776,GARD:0022536,GARD:0004553,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016776,GARD:0022512,GARD:0004553,,Rare renal disease +GARD:0016776,GARD:0022531,GARD:0004553,,Rare genetic disease +GARD:0016777,GARD:0022527,GARD:0004553,,Rare circulatory system disease +GARD:0016777,GARD:0022536,GARD:0004553,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016777,GARD:0022531,GARD:0004553,,Rare genetic disease +GARD:0016777,GARD:0022512,GARD:0004553,,Rare renal disease +GARD:0016778,GARD:0022531,GARD:0022386,,Rare genetic disease +GARD:0016778,GARD:0022510,GARD:0022386,,Rare skin disease +GARD:0016779,GARD:0022510,GARD:0002150,,Rare skin disease +GARD:0016779,GARD:0022513,GARD:0002150,,Rare developmental defect during embryogenesis +GARD:0016779,GARD:0022531,GARD:0002150,,Rare genetic disease +GARD:0016780,GARD:0022531,GARD:0016555,,Rare genetic disease +GARD:0016780,GARD:0022513,GARD:0016555,,Rare developmental defect during embryogenesis +GARD:0016780,GARD:0022524,GARD:0016555,,Rare neurologic disease +GARD:0016781,GARD:0022513,GARD:0006735,,Rare developmental defect during embryogenesis +GARD:0016781,GARD:0022531,GARD:0006735,,Rare genetic disease +GARD:0016781,GARD:0022521,GARD:0006735,,Rare endocrine disease +GARD:0016781,GARD:0022512,GARD:0006735,,Rare renal disease +GARD:0016781,GARD:0022511,GARD:0006735,,Rare bone disease +GARD:0016782,GARD:0022531,GARD:0022105,,Rare genetic disease +GARD:0016782,GARD:0022520,GARD:0022105,,Rare ophthalmic disorder +GARD:0016783,GARD:0022523,GARD:0021508,,Rare immune disease +GARD:0016783,GARD:0022531,GARD:0021508,,Rare genetic disease +GARD:0016783,GARD:0022536,GARD:0021508,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016784,GARD:0022531,GARD:0019459,GARD:0018089,Rare genetic disease +GARD:0016784,GARD:0022531,GARD:0019459,GARD:0018090,Rare genetic disease +GARD:0016784,GARD:0022522,GARD:0019459,GARD:0018089,Rare hematologic disease +GARD:0016784,GARD:0022522,GARD:0019459,GARD:0018090,Rare hematologic disease +GARD:0016785,GARD:0022531,GARD:0019456,,Rare genetic disease +GARD:0016785,GARD:0022522,GARD:0019456,,Rare hematologic disease +GARD:0016786,GARD:0022531,GARD:0019925,,Rare genetic disease +GARD:0016786,GARD:0022524,GARD:0019925,,Rare neurologic disease +GARD:0016786,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0016786,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0016786,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0016786,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0016786,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0016787,GARD:0022524,GARD:0019924,GARD:0018091,Rare neurologic disease +GARD:0016787,GARD:0022531,GARD:0019924,GARD:0018092,Rare genetic disease +GARD:0016787,GARD:0022531,GARD:0019924,GARD:0018091,Rare genetic disease +GARD:0016787,GARD:0022524,GARD:0012449,GARD:0018092,Rare neurologic disease +GARD:0016787,GARD:0022524,GARD:0019924,GARD:0018092,Rare neurologic disease +GARD:0016787,GARD:0022531,GARD:0012449,GARD:0018092,Rare genetic disease +GARD:0016787,GARD:0022524,GARD:0012449,GARD:0018091,Rare neurologic disease +GARD:0016787,GARD:0022531,GARD:0012449,GARD:0018091,Rare genetic disease +GARD:0016788,GARD:0022520,GARD:0003122,,Rare ophthalmic disorder +GARD:0016788,GARD:0022531,GARD:0003122,,Rare genetic disease +GARD:0016788,GARD:0022513,GARD:0003122,,Rare developmental defect during embryogenesis +GARD:0016788,GARD:0022527,GARD:0003122,,Rare circulatory system disease +GARD:0016788,GARD:0022510,GARD:0003122,,Rare skin disease +GARD:0016788,GARD:0022511,GARD:0003122,,Rare bone disease +GARD:0016789,GARD:0022531,GARD:0021987,GARD:0018093,Rare genetic disease +GARD:0016789,GARD:0022531,GARD:0021987,GARD:0018094,Rare genetic disease +GARD:0016789,GARD:0022510,GARD:0018995,GARD:0018094,Rare skin disease +GARD:0016789,GARD:0022510,GARD:0018995,GARD:0018093,Rare skin disease +GARD:0016790,GARD:0022531,GARD:0019091,GARD:0018095,Rare genetic disease +GARD:0016790,GARD:0022528,GARD:0019091,GARD:0018095,Rare otorhinolaryngologic disease +GARD:0016790,GARD:0022528,GARD:0019091,GARD:0018097,Rare otorhinolaryngologic disease +GARD:0016790,GARD:0022528,GARD:0019091,GARD:0018096,Rare otorhinolaryngologic disease +GARD:0016790,GARD:0022528,GARD:0019091,GARD:0018098,Rare otorhinolaryngologic disease +GARD:0016790,GARD:0022531,GARD:0019091,GARD:0018098,Rare genetic disease +GARD:0016790,GARD:0022531,GARD:0019091,GARD:0018097,Rare genetic disease +GARD:0016790,GARD:0022531,GARD:0019091,GARD:0018096,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018109,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018122,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018158,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018146,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018125,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018156,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018133,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018123,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018142,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018118,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018158,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018145,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0009933,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018131,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018139,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018122,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018102,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018134,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018135,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018127,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018155,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018111,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018104,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018131,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018153,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018120,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018110,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018147,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018111,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018126,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018116,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018129,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0009934,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018149,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0009933,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0009167,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018117,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018147,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018137,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018128,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0009934,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018101,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018138,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0001708,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018140,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018103,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018157,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018108,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018148,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018144,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018100,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018112,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018125,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018124,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018140,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018117,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018113,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018116,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018151,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018150,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018146,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018144,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018137,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018139,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018135,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018108,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018106,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018104,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018156,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018118,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018152,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018141,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0009166,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018107,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018132,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018107,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018119,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018142,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018127,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018134,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018120,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018132,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018130,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018114,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018145,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018100,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018105,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018155,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018150,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018110,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018123,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018101,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018153,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018151,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018129,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018143,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018149,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018099,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018099,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0009167,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0009166,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018136,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018143,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018121,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018114,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0001708,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018152,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018102,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018126,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018133,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018115,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018154,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018130,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018113,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0009726,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018141,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018136,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0009726,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018128,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018124,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018109,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018112,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018148,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018103,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018106,Rare genetic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018105,Rare genetic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018157,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018154,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018119,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018138,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022528,GARD:0019091,GARD:0018121,Rare otorhinolaryngologic disease +GARD:0016791,GARD:0022531,GARD:0019091,GARD:0018115,Rare genetic disease +GARD:0016792,GARD:0022531,GARD:0020756,GARD:0004504,Rare genetic disease +GARD:0016792,GARD:0022528,GARD:0019091,GARD:0004504,Rare otorhinolaryngologic disease +GARD:0016792,GARD:0022531,GARD:0020756,GARD:0018160,Rare genetic disease +GARD:0016792,GARD:0022508,GARD:0020756,GARD:0018160,Rare inborn errors of metabolism +GARD:0016792,GARD:0022531,GARD:0020756,GARD:0018159,Rare genetic disease +GARD:0016792,GARD:0022508,GARD:0020756,GARD:0018161,Rare inborn errors of metabolism +GARD:0016792,GARD:0022508,GARD:0020756,GARD:0004504,Rare inborn errors of metabolism +GARD:0016792,GARD:0022531,GARD:0019091,GARD:0018159,Rare genetic disease +GARD:0016792,GARD:0022531,GARD:0019091,GARD:0004504,Rare genetic disease +GARD:0016792,GARD:0022531,GARD:0020756,GARD:0018161,Rare genetic disease +GARD:0016792,GARD:0022528,GARD:0019091,GARD:0018159,Rare otorhinolaryngologic disease +GARD:0016792,GARD:0022528,GARD:0019091,GARD:0018160,Rare otorhinolaryngologic disease +GARD:0016792,GARD:0022528,GARD:0019091,GARD:0018161,Rare otorhinolaryngologic disease +GARD:0016792,GARD:0022531,GARD:0019091,GARD:0018160,Rare genetic disease +GARD:0016792,GARD:0022508,GARD:0020756,GARD:0018159,Rare inborn errors of metabolism +GARD:0016792,GARD:0022531,GARD:0019091,GARD:0018161,Rare genetic disease +GARD:0016793,GARD:0022531,GARD:0019296,,Rare genetic disease +GARD:0016793,GARD:0022521,GARD:0019296,,Rare endocrine disease +GARD:0016794,GARD:0022531,GARD:0019151,,Rare genetic disease +GARD:0016794,GARD:0022514,GARD:0019151,,Rare gynecologic or obstetric disease +GARD:0016794,GARD:0022532,GARD:0019151,,Rare urogenital disease +GARD:0016794,GARD:0022513,GARD:0019151,,Rare developmental defect during embryogenesis +GARD:0016794,GARD:0022536,GARD:0019151,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016794,GARD:0022521,GARD:0019151,,Rare endocrine disease +GARD:0016795,GARD:0022531,GARD:0020762,,Rare genetic disease +GARD:0016795,GARD:0022531,GARD:0020523,,Rare genetic disease +GARD:0016795,GARD:0022508,GARD:0020762,,Rare inborn errors of metabolism +GARD:0016795,GARD:0022515,GARD:0020523,,Rare cardiac disease +GARD:0016795,GARD:0022536,GARD:0020523,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016796,GARD:0022531,GARD:0020574,,Rare genetic disease +GARD:0016796,GARD:0022510,GARD:0020574,,Rare skin disease +GARD:0016797,GARD:0022513,GARD:0010505,GARD:0019607,Rare developmental defect during embryogenesis +GARD:0016797,GARD:0022513,GARD:0010505,GARD:0019606,Rare developmental defect during embryogenesis +GARD:0016797,GARD:0022520,GARD:0010505,GARD:0019606,Rare ophthalmic disorder +GARD:0016797,GARD:0022531,GARD:0010505,GARD:0019607,Rare genetic disease +GARD:0016797,GARD:0022513,GARD:0010505,GARD:0016876,Rare developmental defect during embryogenesis +GARD:0016797,GARD:0022520,GARD:0010505,GARD:0019607,Rare ophthalmic disorder +GARD:0016797,GARD:0022531,GARD:0010505,GARD:0016876,Rare genetic disease +GARD:0016797,GARD:0022520,GARD:0010505,GARD:0016876,Rare ophthalmic disorder +GARD:0016797,GARD:0022531,GARD:0010505,GARD:0019606,Rare genetic disease +GARD:0016798,GARD:0022513,GARD:0019507,GARD:0018163,Rare developmental defect during embryogenesis +GARD:0016798,GARD:0022520,GARD:0019507,GARD:0018163,Rare ophthalmic disorder +GARD:0016798,GARD:0022531,GARD:0019507,GARD:0018162,Rare genetic disease +GARD:0016798,GARD:0022513,GARD:0019507,GARD:0018162,Rare developmental defect during embryogenesis +GARD:0016798,GARD:0022520,GARD:0019507,GARD:0018164,Rare ophthalmic disorder +GARD:0016798,GARD:0022520,GARD:0019507,GARD:0018162,Rare ophthalmic disorder +GARD:0016798,GARD:0022531,GARD:0019507,GARD:0018164,Rare genetic disease +GARD:0016798,GARD:0022531,GARD:0019507,GARD:0018163,Rare genetic disease +GARD:0016798,GARD:0022513,GARD:0019507,GARD:0018164,Rare developmental defect during embryogenesis +GARD:0016799,GARD:0022531,GARD:0019510,GARD:0018165,Rare genetic disease +GARD:0016799,GARD:0022520,GARD:0019510,GARD:0018166,Rare ophthalmic disorder +GARD:0016799,GARD:0022520,GARD:0019510,GARD:0018165,Rare ophthalmic disorder +GARD:0016799,GARD:0022531,GARD:0019510,GARD:0018166,Rare genetic disease +GARD:0016800,GARD:0022513,GARD:0019523,,Rare developmental defect during embryogenesis +GARD:0016800,GARD:0022520,GARD:0019523,,Rare ophthalmic disorder +GARD:0016800,GARD:0022531,GARD:0019523,,Rare genetic disease +GARD:0016801,GARD:0022531,GARD:0020298,GARD:0016888,Rare genetic disease +GARD:0016801,GARD:0022513,GARD:0016857,GARD:0001159,Rare developmental defect during embryogenesis +GARD:0016801,GARD:0022531,GARD:0022169,GARD:0001159,Rare genetic disease +GARD:0016801,GARD:0022531,GARD:0022169,GARD:0016888,Rare genetic disease +GARD:0016801,GARD:0022520,GARD:0019526,GARD:0001159,Rare ophthalmic disorder +GARD:0016801,GARD:0022513,GARD:0016857,GARD:0016888,Rare developmental defect during embryogenesis +GARD:0016801,GARD:0022531,GARD:0020298,GARD:0001159,Rare genetic disease +GARD:0016801,GARD:0022520,GARD:0019526,GARD:0016888,Rare ophthalmic disorder +GARD:0016802,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0016802,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0016802,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0016802,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0016802,GARD:0022513,GARD:0016857,,Rare developmental defect during embryogenesis +GARD:0016802,GARD:0022531,GARD:0020298,,Rare genetic disease +GARD:0016802,GARD:0022531,GARD:0022107,,Rare genetic disease +GARD:0016802,GARD:0022520,GARD:0022107,,Rare ophthalmic disorder +GARD:0016803,GARD:0022520,GARD:0019527,GARD:0018168,Rare ophthalmic disorder +GARD:0016803,GARD:0022531,GARD:0022170,GARD:0018167,Rare genetic disease +GARD:0016803,GARD:0022531,GARD:0022098,GARD:0018168,Rare genetic disease +GARD:0016803,GARD:0022520,GARD:0019527,GARD:0018167,Rare ophthalmic disorder +GARD:0016803,GARD:0022531,GARD:0022098,GARD:0018167,Rare genetic disease +GARD:0016803,GARD:0022520,GARD:0022098,GARD:0018167,Rare ophthalmic disorder +GARD:0016803,GARD:0022520,GARD:0022098,GARD:0018168,Rare ophthalmic disorder +GARD:0016803,GARD:0022531,GARD:0022170,GARD:0018168,Rare genetic disease +GARD:0016804,GARD:0022531,GARD:0009228,,Rare genetic disease +GARD:0016804,GARD:0022513,GARD:0009228,,Rare developmental defect during embryogenesis +GARD:0016804,GARD:0022536,GARD:0009228,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016804,GARD:0022512,GARD:0009228,,Rare renal disease +GARD:0016805,GARD:0022531,GARD:0021133,GARD:0018170,Rare genetic disease +GARD:0016805,GARD:0022511,GARD:0021133,GARD:0018170,Rare bone disease +GARD:0016805,GARD:0022531,GARD:0021133,GARD:0018171,Rare genetic disease +GARD:0016805,GARD:0022531,GARD:0021133,GARD:0018169,Rare genetic disease +GARD:0016805,GARD:0022513,GARD:0021133,GARD:0018171,Rare developmental defect during embryogenesis +GARD:0016805,GARD:0022513,GARD:0021133,GARD:0018170,Rare developmental defect during embryogenesis +GARD:0016805,GARD:0022511,GARD:0021133,GARD:0018169,Rare bone disease +GARD:0016805,GARD:0022513,GARD:0021133,GARD:0018169,Rare developmental defect during embryogenesis +GARD:0016805,GARD:0022521,GARD:0021133,GARD:0018170,Rare endocrine disease +GARD:0016805,GARD:0022511,GARD:0021133,GARD:0018171,Rare bone disease +GARD:0016805,GARD:0022521,GARD:0021133,GARD:0018171,Rare endocrine disease +GARD:0016805,GARD:0022521,GARD:0021133,GARD:0018169,Rare endocrine disease +GARD:0016806,GARD:0022524,GARD:0021269,,Rare neurologic disease +GARD:0016806,GARD:0022524,GARD:0020665,,Rare neurologic disease +GARD:0016806,GARD:0022531,GARD:0020665,,Rare genetic disease +GARD:0016806,GARD:0022531,GARD:0021286,,Rare genetic disease +GARD:0016807,GARD:0022531,GARD:0007380,,Rare genetic disease +GARD:0016807,GARD:0022513,GARD:0007380,,Rare developmental defect during embryogenesis +GARD:0016807,GARD:0022511,GARD:0007380,,Rare bone disease +GARD:0016807,GARD:0022520,GARD:0007380,,Rare ophthalmic disorder +GARD:0016808,GARD:0022520,GARD:0007380,,Rare ophthalmic disorder +GARD:0016808,GARD:0022511,GARD:0007380,,Rare bone disease +GARD:0016808,GARD:0022513,GARD:0007380,,Rare developmental defect during embryogenesis +GARD:0016808,GARD:0022531,GARD:0007380,,Rare genetic disease +GARD:0016809,GARD:0022531,GARD:0007380,,Rare genetic disease +GARD:0016809,GARD:0022511,GARD:0007380,,Rare bone disease +GARD:0016809,GARD:0022520,GARD:0007380,,Rare ophthalmic disorder +GARD:0016809,GARD:0022513,GARD:0007380,,Rare developmental defect during embryogenesis +GARD:0016810,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0016810,GARD:0022531,GARD:0019543,,Rare genetic disease +GARD:0016810,GARD:0022520,GARD:0019543,,Rare ophthalmic disorder +GARD:0016810,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0016810,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0016811,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0016811,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0016811,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0016811,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0016811,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0016812,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0016812,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0016812,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0016812,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0016813,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0016813,GARD:0022531,GARD:0019188,,Rare genetic disease +GARD:0016813,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0016813,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0016814,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0016814,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0016814,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0016814,GARD:0022531,GARD:0021576,,Rare genetic disease +GARD:0016815,GARD:0022513,GARD:0002882,,Rare developmental defect during embryogenesis +GARD:0016815,GARD:0022531,GARD:0002882,,Rare genetic disease +GARD:0016815,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0016815,GARD:0022511,GARD:0002882,,Rare bone disease +GARD:0016816,GARD:0022511,GARD:0010903,,Rare bone disease +GARD:0016816,GARD:0022531,GARD:0010903,,Rare genetic disease +GARD:0016816,GARD:0022513,GARD:0010903,,Rare developmental defect during embryogenesis +GARD:0016817,GARD:0022511,GARD:0022027,GARD:0018173,Rare bone disease +GARD:0016817,GARD:0022511,GARD:0022027,GARD:0018176,Rare bone disease +GARD:0016817,GARD:0022511,GARD:0022027,GARD:0018178,Rare bone disease +GARD:0016817,GARD:0022513,GARD:0022027,GARD:0018174,Rare developmental defect during embryogenesis +GARD:0016817,GARD:0022513,GARD:0022027,GARD:0018176,Rare developmental defect during embryogenesis +GARD:0016817,GARD:0022531,GARD:0022027,GARD:0018175,Rare genetic disease +GARD:0016817,GARD:0022513,GARD:0022027,GARD:0018177,Rare developmental defect during embryogenesis +GARD:0016817,GARD:0022513,GARD:0022027,GARD:0018172,Rare developmental defect during embryogenesis +GARD:0016817,GARD:0022531,GARD:0022027,GARD:0018173,Rare genetic disease +GARD:0016817,GARD:0022513,GARD:0022027,GARD:0018173,Rare developmental defect during embryogenesis +GARD:0016817,GARD:0022531,GARD:0022027,GARD:0018177,Rare genetic disease +GARD:0016817,GARD:0022511,GARD:0022027,GARD:0018172,Rare bone disease +GARD:0016817,GARD:0022513,GARD:0022027,GARD:0018175,Rare developmental defect during embryogenesis +GARD:0016817,GARD:0022531,GARD:0022027,GARD:0018174,Rare genetic disease +GARD:0016817,GARD:0022513,GARD:0022027,GARD:0004414,Rare developmental defect during embryogenesis +GARD:0016817,GARD:0022531,GARD:0022027,GARD:0004414,Rare genetic disease +GARD:0016817,GARD:0022511,GARD:0022027,GARD:0004414,Rare bone disease +GARD:0016817,GARD:0022511,GARD:0022027,GARD:0018177,Rare bone disease +GARD:0016817,GARD:0022511,GARD:0022027,GARD:0018175,Rare bone disease +GARD:0016817,GARD:0022531,GARD:0022027,GARD:0018176,Rare genetic disease +GARD:0016817,GARD:0022531,GARD:0022027,GARD:0018172,Rare genetic disease +GARD:0016817,GARD:0022511,GARD:0022027,GARD:0018174,Rare bone disease +GARD:0016817,GARD:0022531,GARD:0022027,GARD:0018178,Rare genetic disease +GARD:0016817,GARD:0022513,GARD:0022027,GARD:0018178,Rare developmental defect during embryogenesis +GARD:0016818,GARD:0022513,GARD:0022027,,Rare developmental defect during embryogenesis +GARD:0016818,GARD:0022511,GARD:0022027,,Rare bone disease +GARD:0016818,GARD:0022531,GARD:0022027,,Rare genetic disease +GARD:0016819,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0016819,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0016819,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0016820,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0016820,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0016820,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0016821,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0016821,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0016821,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0016822,GARD:0022531,GARD:0021575,GARD:0010612,Rare genetic disease +GARD:0016822,GARD:0022513,GARD:0021567,GARD:0008600,Rare developmental defect during embryogenesis +GARD:0016822,GARD:0022511,GARD:0021567,GARD:0008600,Rare bone disease +GARD:0016822,GARD:0022513,GARD:0021567,GARD:0017818,Rare developmental defect during embryogenesis +GARD:0016822,GARD:0022511,GARD:0021567,GARD:0017818,Rare bone disease +GARD:0016822,GARD:0022511,GARD:0021567,GARD:0010612,Rare bone disease +GARD:0016822,GARD:0022531,GARD:0021567,GARD:0005184,Rare genetic disease +GARD:0016822,GARD:0022531,GARD:0021567,GARD:0018726,Rare genetic disease +GARD:0016822,GARD:0022531,GARD:0021567,GARD:0010612,Rare genetic disease +GARD:0016822,GARD:0022511,GARD:0021567,GARD:0005180,Rare bone disease +GARD:0016822,GARD:0022531,GARD:0021575,GARD:0005180,Rare genetic disease +GARD:0016822,GARD:0022513,GARD:0021567,GARD:0018726,Rare developmental defect during embryogenesis +GARD:0016822,GARD:0022531,GARD:0021575,GARD:0017818,Rare genetic disease +GARD:0016822,GARD:0022531,GARD:0021575,GARD:0008600,Rare genetic disease +GARD:0016822,GARD:0022531,GARD:0021567,GARD:0008600,Rare genetic disease +GARD:0016822,GARD:0022531,GARD:0021575,GARD:0005184,Rare genetic disease +GARD:0016822,GARD:0022513,GARD:0021567,GARD:0010612,Rare developmental defect during embryogenesis +GARD:0016822,GARD:0022531,GARD:0021575,GARD:0018726,Rare genetic disease +GARD:0016822,GARD:0022513,GARD:0021567,GARD:0000816,Rare developmental defect during embryogenesis +GARD:0016822,GARD:0022511,GARD:0021567,GARD:0018726,Rare bone disease +GARD:0016822,GARD:0022531,GARD:0021567,GARD:0005180,Rare genetic disease +GARD:0016822,GARD:0022513,GARD:0021567,GARD:0005184,Rare developmental defect during embryogenesis +GARD:0016822,GARD:0022531,GARD:0021575,GARD:0000816,Rare genetic disease +GARD:0016822,GARD:0022531,GARD:0021567,GARD:0017818,Rare genetic disease +GARD:0016822,GARD:0022531,GARD:0021567,GARD:0000816,Rare genetic disease +GARD:0016822,GARD:0022513,GARD:0021567,GARD:0005180,Rare developmental defect during embryogenesis +GARD:0016822,GARD:0022511,GARD:0021567,GARD:0005184,Rare bone disease +GARD:0016822,GARD:0022511,GARD:0021567,GARD:0000816,Rare bone disease +GARD:0016823,GARD:0022512,GARD:0008702,,Rare renal disease +GARD:0016823,GARD:0022536,GARD:0008702,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016823,GARD:0022522,GARD:0008702,,Rare hematologic disease +GARD:0016823,GARD:0022531,GARD:0008702,,Rare genetic disease +GARD:0016824,GARD:0022512,GARD:0000206,GARD:0018179,Rare renal disease +GARD:0016824,GARD:0022531,GARD:0000206,GARD:0018179,Rare genetic disease +GARD:0016824,GARD:0022536,GARD:0000206,GARD:0018181,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016824,GARD:0022512,GARD:0000206,GARD:0018181,Rare renal disease +GARD:0016824,GARD:0022536,GARD:0000206,GARD:0018180,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016824,GARD:0022531,GARD:0000206,GARD:0018180,Rare genetic disease +GARD:0016824,GARD:0022531,GARD:0000206,GARD:0018181,Rare genetic disease +GARD:0016824,GARD:0022512,GARD:0000206,GARD:0018180,Rare renal disease +GARD:0016824,GARD:0022536,GARD:0000206,GARD:0018179,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016825,GARD:0022531,GARD:0000206,GARD:0018182,Rare genetic disease +GARD:0016825,GARD:0022536,GARD:0000206,GARD:0018183,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016825,GARD:0022531,GARD:0000206,GARD:0018183,Rare genetic disease +GARD:0016825,GARD:0022536,GARD:0000206,GARD:0018182,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016825,GARD:0022512,GARD:0000206,GARD:0018182,Rare renal disease +GARD:0016825,GARD:0022512,GARD:0000206,GARD:0018183,Rare renal disease +GARD:0016826,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0016826,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0016826,GARD:0022531,GARD:0016644,,Rare genetic disease +GARD:0016826,GARD:0022512,GARD:0016644,,Rare renal disease +GARD:0016827,GARD:0022512,GARD:0006237,,Rare renal disease +GARD:0016827,GARD:0022531,GARD:0006237,,Rare genetic disease +GARD:0016827,GARD:0022508,GARD:0006237,,Rare inborn errors of metabolism +GARD:0016827,GARD:0022536,GARD:0006237,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016828,GARD:0022531,GARD:0006237,,Rare genetic disease +GARD:0016828,GARD:0022512,GARD:0006237,,Rare renal disease +GARD:0016828,GARD:0022508,GARD:0006237,,Rare inborn errors of metabolism +GARD:0016828,GARD:0022536,GARD:0006237,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016829,GARD:0022536,GARD:0000621,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016829,GARD:0022531,GARD:0000621,,Rare genetic disease +GARD:0016829,GARD:0022521,GARD:0019289,,Rare endocrine disease +GARD:0016829,GARD:0022522,GARD:0000621,,Rare hematologic disease +GARD:0016830,GARD:0022524,GARD:0006665,,Rare neurologic disease +GARD:0016830,GARD:0022521,GARD:0006665,,Rare endocrine disease +GARD:0016830,GARD:0022513,GARD:0006665,,Rare developmental defect during embryogenesis +GARD:0016830,GARD:0022531,GARD:0006665,,Rare genetic disease +GARD:0016831,GARD:0022524,GARD:0006665,,Rare neurologic disease +GARD:0016831,GARD:0022521,GARD:0006665,,Rare endocrine disease +GARD:0016831,GARD:0022531,GARD:0006665,,Rare genetic disease +GARD:0016831,GARD:0022513,GARD:0006665,,Rare developmental defect during embryogenesis +GARD:0016832,GARD:0022531,GARD:0006665,,Rare genetic disease +GARD:0016832,GARD:0022524,GARD:0006665,,Rare neurologic disease +GARD:0016832,GARD:0022513,GARD:0006665,,Rare developmental defect during embryogenesis +GARD:0016832,GARD:0022521,GARD:0006665,,Rare endocrine disease +GARD:0016833,GARD:0022528,GARD:0003188,,Rare otorhinolaryngologic disease +GARD:0016833,GARD:0022518,GARD:0003188,,Rare surgical thoracic disease +GARD:0016833,GARD:0022534,GARD:0003188,,Rare abdominal surgical disease +GARD:0016833,GARD:0022513,GARD:0003188,,Rare developmental defect during embryogenesis +GARD:0016833,GARD:0022517,GARD:0003188,,Rare respiratory disease +GARD:0016834,GARD:0022531,GARD:0016584,,Rare genetic disease +GARD:0016834,GARD:0022524,GARD:0016584,,Rare neurologic disease +GARD:0016835,GARD:0022513,GARD:0019999,,Rare developmental defect during embryogenesis +GARD:0016835,GARD:0022531,GARD:0019999,,Rare genetic disease +GARD:0016835,GARD:0022528,GARD:0019999,,Rare otorhinolaryngologic disease +GARD:0016836,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0016836,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0016836,GARD:0022524,GARD:0019412,,Rare neurologic disease +GARD:0016836,GARD:0022531,GARD:0019412,,Rare genetic disease +GARD:0016837,GARD:0022513,GARD:0010048,,Rare developmental defect during embryogenesis +GARD:0016837,GARD:0022510,GARD:0010048,,Rare skin disease +GARD:0016837,GARD:0022531,GARD:0010048,,Rare genetic disease +GARD:0016838,GARD:0022531,GARD:0005049,,Rare genetic disease +GARD:0016838,GARD:0022524,GARD:0005049,,Rare neurologic disease +GARD:0016838,GARD:0022513,GARD:0005049,,Rare developmental defect during embryogenesis +GARD:0016839,GARD:0022531,GARD:0022385,,Rare genetic disease +GARD:0016839,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0016839,GARD:0022521,GARD:0020220,,Rare endocrine disease +GARD:0016839,GARD:0022521,GARD:0022385,,Rare endocrine disease +GARD:0016839,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0016839,GARD:0022514,GARD:0020220,,Rare gynecologic or obstetric disease +GARD:0016839,GARD:0022529,GARD:0020220,,Rare infertility +GARD:0016839,GARD:0022531,GARD:0020220,,Rare genetic disease +GARD:0016839,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0016839,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0016840,GARD:0022531,GARD:0020009,GARD:0018186,Rare genetic disease +GARD:0016840,GARD:0022532,GARD:0020252,GARD:0018184,Rare urogenital disease +GARD:0016840,GARD:0022536,GARD:0020252,GARD:0018186,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016840,GARD:0022531,GARD:0020009,GARD:0018185,Rare genetic disease +GARD:0016840,GARD:0022513,GARD:0020252,GARD:0018184,Rare developmental defect during embryogenesis +GARD:0016840,GARD:0022532,GARD:0020252,GARD:0018186,Rare urogenital disease +GARD:0016840,GARD:0022532,GARD:0020252,GARD:0018185,Rare urogenital disease +GARD:0016840,GARD:0022513,GARD:0020252,GARD:0018186,Rare developmental defect during embryogenesis +GARD:0016840,GARD:0022531,GARD:0020009,GARD:0018187,Rare genetic disease +GARD:0016840,GARD:0022536,GARD:0020252,GARD:0018184,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016840,GARD:0022513,GARD:0020252,GARD:0018185,Rare developmental defect during embryogenesis +GARD:0016840,GARD:0022532,GARD:0020252,GARD:0018187,Rare urogenital disease +GARD:0016840,GARD:0022531,GARD:0020009,GARD:0018184,Rare genetic disease +GARD:0016840,GARD:0022536,GARD:0020252,GARD:0018187,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016840,GARD:0022513,GARD:0020252,GARD:0018187,Rare developmental defect during embryogenesis +GARD:0016840,GARD:0022536,GARD:0020252,GARD:0018185,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016841,GARD:0022531,GARD:0019295,GARD:0015165,Rare genetic disease +GARD:0016841,GARD:0022521,GARD:0019295,GARD:0015165,Rare endocrine disease +GARD:0016842,GARD:0022521,GARD:0019295,GARD:0015165,Rare endocrine disease +GARD:0016842,GARD:0022531,GARD:0019295,GARD:0015165,Rare genetic disease +GARD:0016843,GARD:0022531,GARD:0019296,GARD:0018189,Rare genetic disease +GARD:0016843,GARD:0022521,GARD:0019296,GARD:0018193,Rare endocrine disease +GARD:0016843,GARD:0022531,GARD:0019296,GARD:0018191,Rare genetic disease +GARD:0016843,GARD:0022524,GARD:0022440,GARD:0018188,Rare neurologic disease +GARD:0016843,GARD:0022521,GARD:0019296,GARD:0018191,Rare endocrine disease +GARD:0016843,GARD:0022531,GARD:0022440,GARD:0018192,Rare genetic disease +GARD:0016843,GARD:0022531,GARD:0019296,GARD:0018190,Rare genetic disease +GARD:0016843,GARD:0022531,GARD:0022440,GARD:0018189,Rare genetic disease +GARD:0016843,GARD:0022531,GARD:0019296,GARD:0018193,Rare genetic disease +GARD:0016843,GARD:0022524,GARD:0022440,GARD:0018189,Rare neurologic disease +GARD:0016843,GARD:0022524,GARD:0022440,GARD:0018191,Rare neurologic disease +GARD:0016843,GARD:0022521,GARD:0019296,GARD:0018188,Rare endocrine disease +GARD:0016843,GARD:0022531,GARD:0022440,GARD:0018190,Rare genetic disease +GARD:0016843,GARD:0022531,GARD:0022440,GARD:0018191,Rare genetic disease +GARD:0016843,GARD:0022531,GARD:0019296,GARD:0018192,Rare genetic disease +GARD:0016843,GARD:0022524,GARD:0022440,GARD:0018192,Rare neurologic disease +GARD:0016843,GARD:0022531,GARD:0019296,GARD:0018188,Rare genetic disease +GARD:0016843,GARD:0022531,GARD:0022440,GARD:0018188,Rare genetic disease +GARD:0016843,GARD:0022524,GARD:0022440,GARD:0018190,Rare neurologic disease +GARD:0016843,GARD:0022521,GARD:0019296,GARD:0018190,Rare endocrine disease +GARD:0016843,GARD:0022524,GARD:0022440,GARD:0018193,Rare neurologic disease +GARD:0016843,GARD:0022521,GARD:0019296,GARD:0018192,Rare endocrine disease +GARD:0016843,GARD:0022521,GARD:0019296,GARD:0018189,Rare endocrine disease +GARD:0016843,GARD:0022531,GARD:0022440,GARD:0018193,Rare genetic disease +GARD:0016844,GARD:0022531,GARD:0019295,,Rare genetic disease +GARD:0016844,GARD:0022521,GARD:0019299,,Rare endocrine disease +GARD:0016844,GARD:0022521,GARD:0019295,,Rare endocrine disease +GARD:0016845,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016845,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016845,GARD:0022531,GARD:0022084,,Rare genetic disease +GARD:0016845,GARD:0022531,GARD:0020810,,Rare genetic disease +GARD:0016845,GARD:0022520,GARD:0019524,,Rare ophthalmic disorder +GARD:0016845,GARD:0022531,GARD:0019524,,Rare genetic disease +GARD:0016845,GARD:0022520,GARD:0022084,,Rare ophthalmic disorder +GARD:0016845,GARD:0022513,GARD:0022084,,Rare developmental defect during embryogenesis +GARD:0016845,GARD:0022513,GARD:0020810,,Rare developmental defect during embryogenesis +GARD:0016845,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016846,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0016846,GARD:0022531,GARD:0008672,,Rare genetic disease +GARD:0016846,GARD:0022513,GARD:0020829,,Rare developmental defect during embryogenesis +GARD:0016846,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0016846,GARD:0022524,GARD:0008672,,Rare neurologic disease +GARD:0016846,GARD:0022531,GARD:0020829,,Rare genetic disease +GARD:0016846,GARD:0022513,GARD:0008672,,Rare developmental defect during embryogenesis +GARD:0016847,GARD:0022531,GARD:0020832,,Rare genetic disease +GARD:0016847,GARD:0022513,GARD:0020832,,Rare developmental defect during embryogenesis +GARD:0016847,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0016847,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0016848,GARD:0022524,GARD:0013431,,Rare neurologic disease +GARD:0016848,GARD:0022531,GARD:0019424,,Rare genetic disease +GARD:0016848,GARD:0022513,GARD:0013431,,Rare developmental defect during embryogenesis +GARD:0016848,GARD:0022521,GARD:0013431,,Rare endocrine disease +GARD:0016848,GARD:0022531,GARD:0013431,,Rare genetic disease +GARD:0016848,GARD:0022513,GARD:0019424,,Rare developmental defect during embryogenesis +GARD:0016849,GARD:0022513,GARD:0019424,,Rare developmental defect during embryogenesis +GARD:0016849,GARD:0022531,GARD:0019424,,Rare genetic disease +GARD:0016850,GARD:0022521,GARD:0021389,GARD:0006506,Rare endocrine disease +GARD:0016850,GARD:0022521,GARD:0021389,GARD:0005725,Rare endocrine disease +GARD:0016850,GARD:0022535,GARD:0021389,GARD:0005725,Rare neoplastic disease +GARD:0016850,GARD:0022535,GARD:0021389,GARD:0006506,Rare neoplastic disease +GARD:0016851,GARD:0022521,GARD:0003244,,Rare endocrine disease +GARD:0016851,GARD:0022532,GARD:0003244,,Rare urogenital disease +GARD:0016851,GARD:0022531,GARD:0003244,,Rare genetic disease +GARD:0016851,GARD:0022513,GARD:0003244,,Rare developmental defect during embryogenesis +GARD:0016851,GARD:0022529,GARD:0003244,,Rare infertility +GARD:0016851,GARD:0022536,GARD:0003244,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016852,GARD:0022531,GARD:0003244,,Rare genetic disease +GARD:0016852,GARD:0022513,GARD:0003244,,Rare developmental defect during embryogenesis +GARD:0016852,GARD:0022532,GARD:0003244,,Rare urogenital disease +GARD:0016852,GARD:0022536,GARD:0003244,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016852,GARD:0022521,GARD:0003244,,Rare endocrine disease +GARD:0016852,GARD:0022529,GARD:0003244,,Rare infertility +GARD:0016853,GARD:0022531,GARD:0021421,,Rare genetic disease +GARD:0016853,GARD:0022531,GARD:0021420,,Rare genetic disease +GARD:0016853,GARD:0022535,GARD:0021421,,Rare neoplastic disease +GARD:0016853,GARD:0022535,GARD:0021420,,Rare neoplastic disease +GARD:0016853,GARD:0022512,GARD:0021420,,Rare renal disease +GARD:0016853,GARD:0022521,GARD:0021421,,Rare endocrine disease +GARD:0016854,GARD:0022513,GARD:0000379,,Rare developmental defect during embryogenesis +GARD:0016854,GARD:0022531,GARD:0021540,,Rare genetic disease +GARD:0016854,GARD:0022512,GARD:0000379,,Rare renal disease +GARD:0016854,GARD:0022536,GARD:0000379,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016855,GARD:0022536,GARD:0019443,GARD:0018194,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016855,GARD:0022535,GARD:0019443,GARD:0018194,Rare neoplastic disease +GARD:0016855,GARD:0022522,GARD:0019443,GARD:0018194,Rare hematologic disease +GARD:0016856,GARD:0022531,GARD:0020121,GARD:0018195,Rare genetic disease +GARD:0016856,GARD:0022508,GARD:0021352,GARD:0018195,Rare inborn errors of metabolism +GARD:0016856,GARD:0022508,GARD:0021352,GARD:0018196,Rare inborn errors of metabolism +GARD:0016856,GARD:0022522,GARD:0020121,GARD:0018196,Rare hematologic disease +GARD:0016856,GARD:0022531,GARD:0020121,GARD:0018196,Rare genetic disease +GARD:0016856,GARD:0022522,GARD:0020121,GARD:0018195,Rare hematologic disease +GARD:0016856,GARD:0022531,GARD:0021352,GARD:0018196,Rare genetic disease +GARD:0016856,GARD:0022531,GARD:0021352,GARD:0018195,Rare genetic disease +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0016802,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0019522,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0001433,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0022117,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0016657,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0019536,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0010025,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0009952,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0019888,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0019511,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0019495,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0016801,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0016490,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0022082,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0001436,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0022112,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0019508,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0019535,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0019523,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0016875,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0001437,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0008419,Rare developmental defect during embryogenesis +GARD:0016857,GARD:0022513,GARD:0022513,GARD:0019534,Rare developmental defect during embryogenesis +GARD:0016858,GARD:0022531,GARD:0022083,,Rare genetic disease +GARD:0016858,GARD:0022520,GARD:0022083,,Rare ophthalmic disorder +GARD:0016858,GARD:0022513,GARD:0022083,,Rare developmental defect during embryogenesis +GARD:0016859,GARD:0022520,GARD:0019514,GARD:0009937,Rare ophthalmic disorder +GARD:0016859,GARD:0022531,GARD:0019514,GARD:0018197,Rare genetic disease +GARD:0016859,GARD:0022531,GARD:0019514,GARD:0009937,Rare genetic disease +GARD:0016859,GARD:0022531,GARD:0019514,GARD:0018198,Rare genetic disease +GARD:0016859,GARD:0022520,GARD:0019514,GARD:0018198,Rare ophthalmic disorder +GARD:0016859,GARD:0022520,GARD:0019514,GARD:0018197,Rare ophthalmic disorder +GARD:0016860,GARD:0022520,GARD:0019540,GARD:0018199,Rare ophthalmic disorder +GARD:0016860,GARD:0022531,GARD:0019540,GARD:0010200,Rare genetic disease +GARD:0016860,GARD:0022520,GARD:0019540,GARD:0018201,Rare ophthalmic disorder +GARD:0016860,GARD:0022531,GARD:0019540,GARD:0018201,Rare genetic disease +GARD:0016860,GARD:0022531,GARD:0019540,GARD:0018200,Rare genetic disease +GARD:0016860,GARD:0022520,GARD:0019540,GARD:0018200,Rare ophthalmic disorder +GARD:0016860,GARD:0022520,GARD:0019540,GARD:0010200,Rare ophthalmic disorder +GARD:0016860,GARD:0022531,GARD:0019540,GARD:0018199,Rare genetic disease +GARD:0016861,GARD:0022513,GARD:0019424,,Rare developmental defect during embryogenesis +GARD:0016861,GARD:0022529,GARD:0005575,,Rare infertility +GARD:0016861,GARD:0022521,GARD:0005575,,Rare endocrine disease +GARD:0016861,GARD:0022531,GARD:0005575,,Rare genetic disease +GARD:0016861,GARD:0022524,GARD:0005575,,Rare neurologic disease +GARD:0016861,GARD:0022514,GARD:0005575,,Rare gynecologic or obstetric disease +GARD:0016861,GARD:0022513,GARD:0005575,,Rare developmental defect during embryogenesis +GARD:0016861,GARD:0022531,GARD:0019424,,Rare genetic disease +GARD:0016862,GARD:0022536,GARD:0020627,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016862,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0016862,GARD:0022531,GARD:0020816,,Rare genetic disease +GARD:0016862,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0016862,GARD:0022522,GARD:0020627,,Rare hematologic disease +GARD:0016862,GARD:0022513,GARD:0020816,,Rare developmental defect during embryogenesis +GARD:0016862,GARD:0022531,GARD:0020627,,Rare genetic disease +GARD:0016863,GARD:0022536,GARD:0008638,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016863,GARD:0022522,GARD:0008638,,Rare hematologic disease +GARD:0016863,GARD:0022535,GARD:0008638,,Rare neoplastic disease +GARD:0016864,GARD:0022517,GARD:0013337,GARD:0018205,Rare respiratory disease +GARD:0016864,GARD:0022536,GARD:0013337,GARD:0018205,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016865,GARD:0022524,GARD:0006329,GARD:0018208,Rare neurologic disease +GARD:0016865,GARD:0022536,GARD:0006329,GARD:0018207,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016865,GARD:0022515,GARD:0006329,GARD:0010230,Rare cardiac disease +GARD:0016865,GARD:0022515,GARD:0006329,GARD:0018207,Rare cardiac disease +GARD:0016865,GARD:0022531,GARD:0021240,GARD:0010230,Rare genetic disease +GARD:0016865,GARD:0022536,GARD:0006329,GARD:0010230,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016865,GARD:0022531,GARD:0006329,GARD:0018207,Rare genetic disease +GARD:0016865,GARD:0022531,GARD:0021240,GARD:0018207,Rare genetic disease +GARD:0016865,GARD:0022536,GARD:0006329,GARD:0018206,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016865,GARD:0022515,GARD:0006329,GARD:0018208,Rare cardiac disease +GARD:0016865,GARD:0022531,GARD:0021240,GARD:0018206,Rare genetic disease +GARD:0016865,GARD:0022515,GARD:0006329,GARD:0018206,Rare cardiac disease +GARD:0016865,GARD:0022524,GARD:0006329,GARD:0018206,Rare neurologic disease +GARD:0016865,GARD:0022531,GARD:0006329,GARD:0010230,Rare genetic disease +GARD:0016865,GARD:0022524,GARD:0006329,GARD:0010230,Rare neurologic disease +GARD:0016865,GARD:0022524,GARD:0006329,GARD:0018207,Rare neurologic disease +GARD:0016865,GARD:0022536,GARD:0006329,GARD:0018208,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016865,GARD:0022531,GARD:0006329,GARD:0018208,Rare genetic disease +GARD:0016865,GARD:0022531,GARD:0006329,GARD:0018206,Rare genetic disease +GARD:0016865,GARD:0022531,GARD:0021240,GARD:0018208,Rare genetic disease +GARD:0016866,GARD:0022531,GARD:0006329,GARD:0018209,Rare genetic disease +GARD:0016866,GARD:0022524,GARD:0006329,GARD:0018209,Rare neurologic disease +GARD:0016866,GARD:0022515,GARD:0006329,GARD:0018209,Rare cardiac disease +GARD:0016866,GARD:0022531,GARD:0021240,GARD:0018209,Rare genetic disease +GARD:0016866,GARD:0022536,GARD:0006329,GARD:0018209,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016867,GARD:0022522,GARD:0019456,,Rare hematologic disease +GARD:0016867,GARD:0022531,GARD:0019456,,Rare genetic disease +GARD:0016868,GARD:0022522,GARD:0016691,,Rare hematologic disease +GARD:0016868,GARD:0022531,GARD:0016691,,Rare genetic disease +GARD:0016869,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0016869,GARD:0022531,GARD:0020432,,Rare genetic disease +GARD:0016869,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0016870,GARD:0022524,GARD:0020361,,Rare neurologic disease +GARD:0016870,GARD:0022531,GARD:0020526,,Rare genetic disease +GARD:0016870,GARD:0022536,GARD:0020523,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016870,GARD:0022531,GARD:0020523,,Rare genetic disease +GARD:0016870,GARD:0022515,GARD:0020526,,Rare cardiac disease +GARD:0016870,GARD:0022515,GARD:0020532,,Rare cardiac disease +GARD:0016870,GARD:0022531,GARD:0010529,,Rare genetic disease +GARD:0016870,GARD:0022524,GARD:0010529,,Rare neurologic disease +GARD:0016870,GARD:0022515,GARD:0020523,,Rare cardiac disease +GARD:0016870,GARD:0022524,GARD:0020364,,Rare neurologic disease +GARD:0016870,GARD:0022531,GARD:0020361,,Rare genetic disease +GARD:0016870,GARD:0022531,GARD:0020426,,Rare genetic disease +GARD:0016870,GARD:0022531,GARD:0020364,,Rare genetic disease +GARD:0016870,GARD:0022536,GARD:0020526,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016870,GARD:0022531,GARD:0020532,,Rare genetic disease +GARD:0016871,GARD:0022524,GARD:0020440,,Rare neurologic disease +GARD:0016871,GARD:0022524,GARD:0020361,,Rare neurologic disease +GARD:0016871,GARD:0022531,GARD:0020440,,Rare genetic disease +GARD:0016871,GARD:0022531,GARD:0020361,,Rare genetic disease +GARD:0016872,GARD:0022520,GARD:0011902,GARD:0018210,Rare ophthalmic disorder +GARD:0016872,GARD:0022531,GARD:0011902,GARD:0018210,Rare genetic disease +GARD:0016872,GARD:0022513,GARD:0011902,GARD:0018210,Rare developmental defect during embryogenesis +GARD:0016872,GARD:0022524,GARD:0011902,GARD:0018210,Rare neurologic disease +GARD:0016873,GARD:0022524,GARD:0006554,GARD:0018211,Rare neurologic disease +GARD:0016874,GARD:0022531,GARD:0010902,,Rare genetic disease +GARD:0016874,GARD:0022524,GARD:0010902,,Rare neurologic disease +GARD:0016875,GARD:0022531,GARD:0022181,,Rare genetic disease +GARD:0016875,GARD:0022531,GARD:0020298,,Rare genetic disease +GARD:0016875,GARD:0022513,GARD:0016857,,Rare developmental defect during embryogenesis +GARD:0016875,GARD:0022520,GARD:0022101,,Rare ophthalmic disorder +GARD:0016876,GARD:0022531,GARD:0016797,,Rare genetic disease +GARD:0016876,GARD:0022513,GARD:0016797,,Rare developmental defect during embryogenesis +GARD:0016876,GARD:0022520,GARD:0016797,,Rare ophthalmic disorder +GARD:0016877,GARD:0022531,GARD:0022177,,Rare genetic disease +GARD:0016877,GARD:0022520,GARD:0019518,,Rare ophthalmic disorder +GARD:0016878,GARD:0022520,GARD:0019518,,Rare ophthalmic disorder +GARD:0016878,GARD:0022531,GARD:0022177,,Rare genetic disease +GARD:0016879,GARD:0022531,GARD:0019519,,Rare genetic disease +GARD:0016879,GARD:0022520,GARD:0019519,,Rare ophthalmic disorder +GARD:0016880,GARD:0022520,GARD:0019519,,Rare ophthalmic disorder +GARD:0016880,GARD:0022531,GARD:0019519,,Rare genetic disease +GARD:0016881,GARD:0022520,GARD:0019519,,Rare ophthalmic disorder +GARD:0016881,GARD:0022531,GARD:0019519,,Rare genetic disease +GARD:0016882,GARD:0022531,GARD:0022189,GARD:0018213,Rare genetic disease +GARD:0016882,GARD:0022531,GARD:0019520,GARD:0018215,Rare genetic disease +GARD:0016882,GARD:0022520,GARD:0019522,GARD:0018213,Rare ophthalmic disorder +GARD:0016882,GARD:0022531,GARD:0022189,GARD:0018212,Rare genetic disease +GARD:0016882,GARD:0022520,GARD:0019520,GARD:0018213,Rare ophthalmic disorder +GARD:0016882,GARD:0022513,GARD:0019522,GARD:0018212,Rare developmental defect during embryogenesis +GARD:0016882,GARD:0022531,GARD:0022189,GARD:0018215,Rare genetic disease +GARD:0016882,GARD:0022513,GARD:0019522,GARD:0018213,Rare developmental defect during embryogenesis +GARD:0016882,GARD:0022513,GARD:0019522,GARD:0018214,Rare developmental defect during embryogenesis +GARD:0016882,GARD:0022520,GARD:0019522,GARD:0018214,Rare ophthalmic disorder +GARD:0016882,GARD:0022531,GARD:0022189,GARD:0018214,Rare genetic disease +GARD:0016882,GARD:0022520,GARD:0019522,GARD:0018212,Rare ophthalmic disorder +GARD:0016882,GARD:0022531,GARD:0019520,GARD:0018213,Rare genetic disease +GARD:0016882,GARD:0022531,GARD:0019520,GARD:0018212,Rare genetic disease +GARD:0016882,GARD:0022520,GARD:0019522,GARD:0018215,Rare ophthalmic disorder +GARD:0016882,GARD:0022520,GARD:0019520,GARD:0018215,Rare ophthalmic disorder +GARD:0016882,GARD:0022520,GARD:0019520,GARD:0018214,Rare ophthalmic disorder +GARD:0016882,GARD:0022520,GARD:0019520,GARD:0018212,Rare ophthalmic disorder +GARD:0016882,GARD:0022531,GARD:0019520,GARD:0018214,Rare genetic disease +GARD:0016882,GARD:0022513,GARD:0019522,GARD:0018215,Rare developmental defect during embryogenesis +GARD:0016883,GARD:0022513,GARD:0016490,GARD:0018231,Rare developmental defect during embryogenesis +GARD:0016883,GARD:0022531,GARD:0016490,GARD:0018229,Rare genetic disease +GARD:0016883,GARD:0022520,GARD:0016490,GARD:0018231,Rare ophthalmic disorder +GARD:0016883,GARD:0022520,GARD:0016490,GARD:0018230,Rare ophthalmic disorder +GARD:0016883,GARD:0022531,GARD:0016490,GARD:0018224,Rare genetic disease +GARD:0016883,GARD:0022520,GARD:0016490,GARD:0009485,Rare ophthalmic disorder +GARD:0016883,GARD:0022513,GARD:0016490,GARD:0018230,Rare developmental defect during embryogenesis +GARD:0016883,GARD:0022531,GARD:0016490,GARD:0018231,Rare genetic disease +GARD:0016883,GARD:0022520,GARD:0016490,GARD:0018224,Rare ophthalmic disorder +GARD:0016883,GARD:0022513,GARD:0016490,GARD:0018228,Rare developmental defect during embryogenesis +GARD:0016883,GARD:0022513,GARD:0016490,GARD:0018224,Rare developmental defect during embryogenesis +GARD:0016883,GARD:0022520,GARD:0016490,GARD:0018229,Rare ophthalmic disorder +GARD:0016883,GARD:0022531,GARD:0016490,GARD:0018228,Rare genetic disease +GARD:0016883,GARD:0022513,GARD:0016490,GARD:0018229,Rare developmental defect during embryogenesis +GARD:0016883,GARD:0022531,GARD:0016490,GARD:0009485,Rare genetic disease +GARD:0016883,GARD:0022520,GARD:0016490,GARD:0018228,Rare ophthalmic disorder +GARD:0016883,GARD:0022513,GARD:0016490,GARD:0009485,Rare developmental defect during embryogenesis +GARD:0016883,GARD:0022531,GARD:0016490,GARD:0018230,Rare genetic disease +GARD:0016884,GARD:0022520,GARD:0016888,,Rare ophthalmic disorder +GARD:0016884,GARD:0022531,GARD:0016888,,Rare genetic disease +GARD:0016884,GARD:0022513,GARD:0016888,,Rare developmental defect during embryogenesis +GARD:0016885,GARD:0022513,GARD:0001898,GARD:0018232,Rare developmental defect during embryogenesis +GARD:0016885,GARD:0022531,GARD:0001898,GARD:0018232,Rare genetic disease +GARD:0016885,GARD:0022520,GARD:0001898,GARD:0018232,Rare ophthalmic disorder +GARD:0016886,GARD:0022520,GARD:0016888,GARD:0018233,Rare ophthalmic disorder +GARD:0016886,GARD:0022531,GARD:0016888,GARD:0018233,Rare genetic disease +GARD:0016886,GARD:0022513,GARD:0016888,GARD:0018233,Rare developmental defect during embryogenesis +GARD:0016887,GARD:0022513,GARD:0001898,GARD:0009492,Rare developmental defect during embryogenesis +GARD:0016887,GARD:0022531,GARD:0001898,GARD:0009492,Rare genetic disease +GARD:0016887,GARD:0022513,GARD:0001898,GARD:0018236,Rare developmental defect during embryogenesis +GARD:0016887,GARD:0022513,GARD:0001898,GARD:0018235,Rare developmental defect during embryogenesis +GARD:0016887,GARD:0022520,GARD:0001898,GARD:0009892,Rare ophthalmic disorder +GARD:0016887,GARD:0022531,GARD:0001898,GARD:0018235,Rare genetic disease +GARD:0016887,GARD:0022513,GARD:0001898,GARD:0018234,Rare developmental defect during embryogenesis +GARD:0016887,GARD:0022520,GARD:0001898,GARD:0018234,Rare ophthalmic disorder +GARD:0016887,GARD:0022520,GARD:0001898,GARD:0018235,Rare ophthalmic disorder +GARD:0016887,GARD:0022513,GARD:0001898,GARD:0009892,Rare developmental defect during embryogenesis +GARD:0016887,GARD:0022531,GARD:0001898,GARD:0018234,Rare genetic disease +GARD:0016887,GARD:0022520,GARD:0001898,GARD:0009492,Rare ophthalmic disorder +GARD:0016887,GARD:0022531,GARD:0001898,GARD:0018236,Rare genetic disease +GARD:0016887,GARD:0022531,GARD:0001898,GARD:0009892,Rare genetic disease +GARD:0016887,GARD:0022520,GARD:0001898,GARD:0018236,Rare ophthalmic disorder +GARD:0016888,GARD:0022513,GARD:0016801,GARD:0016884,Rare developmental defect during embryogenesis +GARD:0016888,GARD:0022520,GARD:0016801,GARD:0001140,Rare ophthalmic disorder +GARD:0016888,GARD:0022513,GARD:0016801,GARD:0021846,Rare developmental defect during embryogenesis +GARD:0016888,GARD:0022513,GARD:0016801,GARD:0009508,Rare developmental defect during embryogenesis +GARD:0016888,GARD:0022520,GARD:0016801,GARD:0016889,Rare ophthalmic disorder +GARD:0016888,GARD:0022520,GARD:0016801,GARD:0016884,Rare ophthalmic disorder +GARD:0016888,GARD:0022531,GARD:0016801,GARD:0016884,Rare genetic disease +GARD:0016888,GARD:0022531,GARD:0016801,GARD:0016886,Rare genetic disease +GARD:0016888,GARD:0022513,GARD:0016801,GARD:0016886,Rare developmental defect during embryogenesis +GARD:0016888,GARD:0022531,GARD:0016801,GARD:0009508,Rare genetic disease +GARD:0016888,GARD:0022531,GARD:0016801,GARD:0001898,Rare genetic disease +GARD:0016888,GARD:0022531,GARD:0016801,GARD:0021846,Rare genetic disease +GARD:0016888,GARD:0022531,GARD:0016801,GARD:0016889,Rare genetic disease +GARD:0016888,GARD:0022520,GARD:0016801,GARD:0021846,Rare ophthalmic disorder +GARD:0016888,GARD:0022513,GARD:0016801,GARD:0001898,Rare developmental defect during embryogenesis +GARD:0016888,GARD:0022520,GARD:0016801,GARD:0016886,Rare ophthalmic disorder +GARD:0016888,GARD:0022513,GARD:0016801,GARD:0016889,Rare developmental defect during embryogenesis +GARD:0016888,GARD:0022513,GARD:0016801,GARD:0001140,Rare developmental defect during embryogenesis +GARD:0016888,GARD:0022520,GARD:0016801,GARD:0009508,Rare ophthalmic disorder +GARD:0016888,GARD:0022531,GARD:0016801,GARD:0001140,Rare genetic disease +GARD:0016888,GARD:0022520,GARD:0016801,GARD:0001898,Rare ophthalmic disorder +GARD:0016889,GARD:0022513,GARD:0016888,,Rare developmental defect during embryogenesis +GARD:0016889,GARD:0022531,GARD:0016888,,Rare genetic disease +GARD:0016889,GARD:0022520,GARD:0016888,,Rare ophthalmic disorder +GARD:0016890,GARD:0022520,GARD:0009821,GARD:0018237,Rare ophthalmic disorder +GARD:0016890,GARD:0022520,GARD:0009821,GARD:0018238,Rare ophthalmic disorder +GARD:0016890,GARD:0022531,GARD:0009821,GARD:0018237,Rare genetic disease +GARD:0016890,GARD:0022531,GARD:0009821,GARD:0018238,Rare genetic disease +GARD:0016891,GARD:0022531,GARD:0009821,GARD:0018241,Rare genetic disease +GARD:0016891,GARD:0022520,GARD:0009821,GARD:0018240,Rare ophthalmic disorder +GARD:0016891,GARD:0022531,GARD:0009821,GARD:0018239,Rare genetic disease +GARD:0016891,GARD:0022520,GARD:0009821,GARD:0018241,Rare ophthalmic disorder +GARD:0016891,GARD:0022520,GARD:0009821,GARD:0018239,Rare ophthalmic disorder +GARD:0016891,GARD:0022531,GARD:0009821,GARD:0018240,Rare genetic disease +GARD:0016892,GARD:0022519,GARD:0016619,GARD:0018242,Rare surgical cardiac disease +GARD:0016892,GARD:0022513,GARD:0016619,GARD:0018242,Rare developmental defect during embryogenesis +GARD:0016892,GARD:0022527,GARD:0016619,GARD:0018242,Rare circulatory system disease +GARD:0016893,GARD:0022513,GARD:0001454,,Rare developmental defect during embryogenesis +GARD:0016893,GARD:0022519,GARD:0001454,,Rare surgical cardiac disease +GARD:0016893,GARD:0022531,GARD:0001454,,Rare genetic disease +GARD:0016894,GARD:0022513,GARD:0001454,,Rare developmental defect during embryogenesis +GARD:0016894,GARD:0022519,GARD:0001454,,Rare surgical cardiac disease +GARD:0016894,GARD:0022531,GARD:0001454,,Rare genetic disease +GARD:0016895,GARD:0022513,GARD:0021948,,Rare developmental defect during embryogenesis +GARD:0016895,GARD:0022519,GARD:0021948,,Rare surgical cardiac disease +GARD:0016896,GARD:0022513,GARD:0004599,,Rare developmental defect during embryogenesis +GARD:0016896,GARD:0022519,GARD:0004599,,Rare surgical cardiac disease +GARD:0016896,GARD:0022527,GARD:0004599,,Rare circulatory system disease +GARD:0016897,GARD:0022531,GARD:0019459,,Rare genetic disease +GARD:0016897,GARD:0022522,GARD:0019459,,Rare hematologic disease +GARD:0016898,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0016898,GARD:0022510,GARD:0021153,,Rare skin disease +GARD:0016898,GARD:0022531,GARD:0021153,,Rare genetic disease +GARD:0016898,GARD:0022531,GARD:0021810,,Rare genetic disease +GARD:0016898,GARD:0022513,GARD:0021153,,Rare developmental defect during embryogenesis +GARD:0016898,GARD:0022527,GARD:0021153,,Rare circulatory system disease +GARD:0016898,GARD:0022513,GARD:0009789,,Rare developmental defect during embryogenesis +GARD:0016898,GARD:0022527,GARD:0009789,,Rare circulatory system disease +GARD:0016898,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0016899,GARD:0022531,GARD:0019508,,Rare genetic disease +GARD:0016899,GARD:0022520,GARD:0019508,,Rare ophthalmic disorder +GARD:0016899,GARD:0022513,GARD:0019508,,Rare developmental defect during embryogenesis +GARD:0016900,GARD:0022520,GARD:0022105,,Rare ophthalmic disorder +GARD:0016900,GARD:0022531,GARD:0022105,,Rare genetic disease +GARD:0016901,GARD:0022531,GARD:0021793,,Rare genetic disease +GARD:0016901,GARD:0022535,GARD:0019763,,Rare neoplastic disease +GARD:0016901,GARD:0022535,GARD:0021793,,Rare neoplastic disease +GARD:0016901,GARD:0022521,GARD:0019763,,Rare endocrine disease +GARD:0016901,GARD:0022516,GARD:0021793,,Rare gastroenterologic disease +GARD:0016902,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0016902,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0016902,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0016903,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0016903,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0016903,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0016904,GARD:0022524,GARD:0004459,,Rare neurologic disease +GARD:0016904,GARD:0022531,GARD:0004459,,Rare genetic disease +GARD:0016905,GARD:0022531,GARD:0004459,,Rare genetic disease +GARD:0016905,GARD:0022524,GARD:0004459,,Rare neurologic disease +GARD:0016906,GARD:0022524,GARD:0004459,,Rare neurologic disease +GARD:0016906,GARD:0022531,GARD:0004459,,Rare genetic disease +GARD:0016907,GARD:0022507,GARD:0001896,GARD:0018243,Rare maxillo-facial surgical disease +GARD:0016907,GARD:0022513,GARD:0001896,GARD:0018243,Rare developmental defect during embryogenesis +GARD:0016908,GARD:0022526,GARD:0020055,GARD:0018248,Rare odontologic disease +GARD:0016908,GARD:0022526,GARD:0020055,GARD:0018245,Rare odontologic disease +GARD:0016908,GARD:0022531,GARD:0021748,GARD:0018246,Rare genetic disease +GARD:0016908,GARD:0022531,GARD:0021748,GARD:0018244,Rare genetic disease +GARD:0016908,GARD:0022531,GARD:0021748,GARD:0018248,Rare genetic disease +GARD:0016908,GARD:0022526,GARD:0020055,GARD:0018250,Rare odontologic disease +GARD:0016908,GARD:0022531,GARD:0021748,GARD:0018249,Rare genetic disease +GARD:0016908,GARD:0022526,GARD:0020055,GARD:0018247,Rare odontologic disease +GARD:0016908,GARD:0022531,GARD:0021748,GARD:0018247,Rare genetic disease +GARD:0016908,GARD:0022526,GARD:0020055,GARD:0018249,Rare odontologic disease +GARD:0016908,GARD:0022531,GARD:0021748,GARD:0018245,Rare genetic disease +GARD:0016908,GARD:0022526,GARD:0020055,GARD:0018244,Rare odontologic disease +GARD:0016908,GARD:0022531,GARD:0021748,GARD:0018250,Rare genetic disease +GARD:0016908,GARD:0022526,GARD:0020055,GARD:0018246,Rare odontologic disease +GARD:0016909,GARD:0022513,GARD:0022248,,Rare developmental defect during embryogenesis +GARD:0016909,GARD:0022531,GARD:0019846,,Rare genetic disease +GARD:0016909,GARD:0022524,GARD:0021754,,Rare neurologic disease +GARD:0016909,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0016909,GARD:0022534,GARD:0022248,,Rare abdominal surgical disease +GARD:0016909,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0016909,GARD:0022531,GARD:0021802,,Rare genetic disease +GARD:0016909,GARD:0022516,GARD:0019846,,Rare gastroenterologic disease +GARD:0016909,GARD:0022531,GARD:0022248,,Rare genetic disease +GARD:0016909,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0016909,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0016909,GARD:0022536,GARD:0022248,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016909,GARD:0022536,GARD:0019846,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016910,GARD:0022531,GARD:0020831,,Rare genetic disease +GARD:0016910,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0016910,GARD:0022513,GARD:0020831,,Rare developmental defect during embryogenesis +GARD:0016910,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0016910,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0016911,GARD:0022531,GARD:0020083,,Rare genetic disease +GARD:0016911,GARD:0022527,GARD:0022298,,Rare circulatory system disease +GARD:0016911,GARD:0022531,GARD:0022298,,Rare genetic disease +GARD:0016911,GARD:0022513,GARD:0022298,,Rare developmental defect during embryogenesis +GARD:0016911,GARD:0022510,GARD:0022298,,Rare skin disease +GARD:0016911,GARD:0022524,GARD:0020083,,Rare neurologic disease +GARD:0016912,GARD:0022524,GARD:0020742,,Rare neurologic disease +GARD:0016912,GARD:0022516,GARD:0006408,,Rare gastroenterologic disease +GARD:0016912,GARD:0022535,GARD:0006408,,Rare neoplastic disease +GARD:0016912,GARD:0022531,GARD:0006408,,Rare genetic disease +GARD:0016912,GARD:0022536,GARD:0006408,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016913,GARD:0022514,GARD:0020049,,Rare gynecologic or obstetric disease +GARD:0016913,GARD:0022521,GARD:0020222,,Rare endocrine disease +GARD:0016913,GARD:0022531,GARD:0020222,,Rare genetic disease +GARD:0016914,GARD:0022521,GARD:0012280,,Rare endocrine disease +GARD:0016914,GARD:0022531,GARD:0012280,,Rare genetic disease +GARD:0016915,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016915,GARD:0022523,GARD:0016616,,Rare immune disease +GARD:0016915,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0016915,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0016915,GARD:0022520,GARD:0016616,,Rare ophthalmic disorder +GARD:0016915,GARD:0022531,GARD:0016616,,Rare genetic disease +GARD:0016915,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0016916,GARD:0022531,GARD:0019152,GARD:0018251,Rare genetic disease +GARD:0016916,GARD:0022524,GARD:0020369,GARD:0003879,Rare neurologic disease +GARD:0016916,GARD:0022524,GARD:0020369,GARD:0018251,Rare neurologic disease +GARD:0016916,GARD:0022531,GARD:0021519,GARD:0003879,Rare genetic disease +GARD:0016916,GARD:0022531,GARD:0020369,GARD:0003879,Rare genetic disease +GARD:0016916,GARD:0022531,GARD:0021519,GARD:0018251,Rare genetic disease +GARD:0016916,GARD:0022508,GARD:0019152,GARD:0003879,Rare inborn errors of metabolism +GARD:0016916,GARD:0022508,GARD:0019152,GARD:0018251,Rare inborn errors of metabolism +GARD:0016916,GARD:0022508,GARD:0021519,GARD:0003879,Rare inborn errors of metabolism +GARD:0016916,GARD:0022531,GARD:0020369,GARD:0018251,Rare genetic disease +GARD:0016916,GARD:0022508,GARD:0021519,GARD:0018251,Rare inborn errors of metabolism +GARD:0016916,GARD:0022531,GARD:0019152,GARD:0003879,Rare genetic disease +GARD:0016917,GARD:0022508,GARD:0019152,,Rare inborn errors of metabolism +GARD:0016917,GARD:0022524,GARD:0020369,,Rare neurologic disease +GARD:0016917,GARD:0022531,GARD:0020369,,Rare genetic disease +GARD:0016917,GARD:0022531,GARD:0019152,,Rare genetic disease +GARD:0016918,GARD:0022531,GARD:0000231,GARD:0018252,Rare genetic disease +GARD:0016918,GARD:0022524,GARD:0000231,GARD:0018252,Rare neurologic disease +GARD:0016919,GARD:0022531,GARD:0000231,,Rare genetic disease +GARD:0016919,GARD:0022524,GARD:0000231,,Rare neurologic disease +GARD:0016920,GARD:0022522,GARD:0000522,GARD:0022341,Rare hematologic disease +GARD:0016920,GARD:0022536,GARD:0000522,GARD:0022341,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016920,GARD:0022535,GARD:0000522,GARD:0022341,Rare neoplastic disease +GARD:0016921,GARD:0022532,GARD:0013047,,Rare urogenital disease +GARD:0016921,GARD:0022535,GARD:0013047,,Rare neoplastic disease +GARD:0016921,GARD:0022536,GARD:0013047,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016922,GARD:0022535,GARD:0005201,GARD:0020892,Rare neoplastic disease +GARD:0016922,GARD:0022535,GARD:0005201,GARD:0020894,Rare neoplastic disease +GARD:0016922,GARD:0022535,GARD:0005201,GARD:0020893,Rare neoplastic disease +GARD:0016923,GARD:0022535,GARD:0002837,GARD:0018256,Rare neoplastic disease +GARD:0016923,GARD:0022531,GARD:0002837,GARD:0018255,Rare genetic disease +GARD:0016923,GARD:0022531,GARD:0002837,GARD:0018254,Rare genetic disease +GARD:0016923,GARD:0022521,GARD:0002837,GARD:0018253,Rare endocrine disease +GARD:0016923,GARD:0022535,GARD:0002837,GARD:0018253,Rare neoplastic disease +GARD:0016923,GARD:0022531,GARD:0002837,GARD:0018257,Rare genetic disease +GARD:0016923,GARD:0022531,GARD:0002837,GARD:0018256,Rare genetic disease +GARD:0016923,GARD:0022531,GARD:0002837,GARD:0018253,Rare genetic disease +GARD:0016923,GARD:0022521,GARD:0002837,GARD:0018256,Rare endocrine disease +GARD:0016923,GARD:0022521,GARD:0002837,GARD:0018257,Rare endocrine disease +GARD:0016923,GARD:0022521,GARD:0002837,GARD:0018254,Rare endocrine disease +GARD:0016923,GARD:0022535,GARD:0002837,GARD:0018257,Rare neoplastic disease +GARD:0016923,GARD:0022535,GARD:0002837,GARD:0018255,Rare neoplastic disease +GARD:0016923,GARD:0022521,GARD:0002837,GARD:0018255,Rare endocrine disease +GARD:0016923,GARD:0022535,GARD:0002837,GARD:0018254,Rare neoplastic disease +GARD:0016924,GARD:0022530,GARD:0019704,GARD:0008240,Rare allergic disease +GARD:0016924,GARD:0022517,GARD:0019704,GARD:0008240,Rare respiratory disease +GARD:0016924,GARD:0022536,GARD:0019704,GARD:0008240,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016925,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0016925,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0016926,GARD:0022535,GARD:0020716,,Rare neoplastic disease +GARD:0016926,GARD:0022535,GARD:0007572,,Rare neoplastic disease +GARD:0016926,GARD:0022524,GARD:0020716,,Rare neurologic disease +GARD:0016927,GARD:0022535,GARD:0006383,,Rare neoplastic disease +GARD:0016927,GARD:0022516,GARD:0006383,,Rare gastroenterologic disease +GARD:0016928,GARD:0022524,GARD:0004647,,Rare neurologic disease +GARD:0016929,GARD:0022531,GARD:0010266,,Rare genetic disease +GARD:0016929,GARD:0022525,GARD:0010266,,Rare systemic or rheumatologic disease +GARD:0016929,GARD:0022536,GARD:0010266,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016929,GARD:0022524,GARD:0010266,,Rare neurologic disease +GARD:0016930,GARD:0022525,GARD:0010266,,Rare systemic or rheumatologic disease +GARD:0016930,GARD:0022531,GARD:0010266,,Rare genetic disease +GARD:0016930,GARD:0022536,GARD:0010266,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016930,GARD:0022524,GARD:0010266,,Rare neurologic disease +GARD:0016931,GARD:0022531,GARD:0005791,GARD:0018258,Rare genetic disease +GARD:0016931,GARD:0022526,GARD:0005791,GARD:0016071,Rare odontologic disease +GARD:0016931,GARD:0022531,GARD:0005791,GARD:0016071,Rare genetic disease +GARD:0016931,GARD:0022526,GARD:0005791,GARD:0018258,Rare odontologic disease +GARD:0016932,GARD:0022526,GARD:0005791,,Rare odontologic disease +GARD:0016932,GARD:0022531,GARD:0005791,,Rare genetic disease +GARD:0016933,GARD:0022531,GARD:0022194,,Rare genetic disease +GARD:0016933,GARD:0022525,GARD:0022194,,Rare systemic or rheumatologic disease +GARD:0016933,GARD:0022530,GARD:0022194,,Rare allergic disease +GARD:0016934,GARD:0022530,GARD:0022194,,Rare allergic disease +GARD:0016934,GARD:0022531,GARD:0022194,,Rare genetic disease +GARD:0016934,GARD:0022525,GARD:0022194,,Rare systemic or rheumatologic disease +GARD:0016935,GARD:0022525,GARD:0022195,,Rare systemic or rheumatologic disease +GARD:0016935,GARD:0022530,GARD:0022195,,Rare allergic disease +GARD:0016935,GARD:0022531,GARD:0022195,,Rare genetic disease +GARD:0016936,GARD:0022525,GARD:0008605,GARD:0018259,Rare systemic or rheumatologic disease +GARD:0016936,GARD:0022530,GARD:0008605,GARD:0018259,Rare allergic disease +GARD:0016937,GARD:0022506,GARD:0019255,,Rare hepatic disease +GARD:0016937,GARD:0022508,GARD:0019255,,Rare inborn errors of metabolism +GARD:0016937,GARD:0022531,GARD:0019255,,Rare genetic disease +GARD:0016937,GARD:0022510,GARD:0019255,,Rare skin disease +GARD:0016937,GARD:0022524,GARD:0019255,,Rare neurologic disease +GARD:0016937,GARD:0022512,GARD:0019255,,Rare renal disease +GARD:0016938,GARD:0022531,GARD:0021106,,Rare genetic disease +GARD:0016938,GARD:0022510,GARD:0021106,,Rare skin disease +GARD:0016938,GARD:0022520,GARD:0021106,,Rare ophthalmic disorder +GARD:0016938,GARD:0022513,GARD:0021106,,Rare developmental defect during embryogenesis +GARD:0016939,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0016939,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0016940,GARD:0022531,GARD:0021431,,Rare genetic disease +GARD:0016940,GARD:0022524,GARD:0021431,,Rare neurologic disease +GARD:0016941,GARD:0022524,GARD:0019773,,Rare neurologic disease +GARD:0016941,GARD:0022531,GARD:0019773,,Rare genetic disease +GARD:0016942,GARD:0022531,GARD:0021430,,Rare genetic disease +GARD:0016942,GARD:0022531,GARD:0021431,,Rare genetic disease +GARD:0016942,GARD:0022524,GARD:0021430,,Rare neurologic disease +GARD:0016942,GARD:0022524,GARD:0021431,,Rare neurologic disease +GARD:0016943,GARD:0022520,GARD:0019519,,Rare ophthalmic disorder +GARD:0016943,GARD:0022531,GARD:0019519,,Rare genetic disease +GARD:0016944,GARD:0022523,GARD:0021509,,Rare immune disease +GARD:0016944,GARD:0022531,GARD:0021509,,Rare genetic disease +GARD:0016944,GARD:0022536,GARD:0019861,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016944,GARD:0022534,GARD:0019861,,Rare abdominal surgical disease +GARD:0016944,GARD:0022513,GARD:0019861,,Rare developmental defect during embryogenesis +GARD:0016944,GARD:0022531,GARD:0019861,,Rare genetic disease +GARD:0016945,GARD:0022531,GARD:0019841,GARD:0018261,Rare genetic disease +GARD:0016945,GARD:0022516,GARD:0019841,GARD:0018261,Rare gastroenterologic disease +GARD:0016945,GARD:0022531,GARD:0019841,GARD:0018260,Rare genetic disease +GARD:0016945,GARD:0022536,GARD:0019841,GARD:0018260,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016945,GARD:0022516,GARD:0018918,GARD:0018261,Rare gastroenterologic disease +GARD:0016945,GARD:0022536,GARD:0018918,GARD:0018260,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016945,GARD:0022536,GARD:0018918,GARD:0018261,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016945,GARD:0022536,GARD:0019841,GARD:0018261,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016945,GARD:0022531,GARD:0021546,GARD:0018260,Rare genetic disease +GARD:0016945,GARD:0022516,GARD:0019841,GARD:0018260,Rare gastroenterologic disease +GARD:0016945,GARD:0022516,GARD:0018918,GARD:0018260,Rare gastroenterologic disease +GARD:0016945,GARD:0022531,GARD:0021546,GARD:0018261,Rare genetic disease +GARD:0016946,GARD:0022516,GARD:0019787,,Rare gastroenterologic disease +GARD:0016947,GARD:0022513,GARD:0021467,,Rare developmental defect during embryogenesis +GARD:0016947,GARD:0022523,GARD:0021405,,Rare immune disease +GARD:0016947,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0016947,GARD:0022532,GARD:0021467,,Rare urogenital disease +GARD:0016947,GARD:0022531,GARD:0021405,,Rare genetic disease +GARD:0016947,GARD:0022531,GARD:0021467,,Rare genetic disease +GARD:0016947,GARD:0022521,GARD:0021467,,Rare endocrine disease +GARD:0016947,GARD:0022536,GARD:0010559,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016947,GARD:0022517,GARD:0010559,,Rare respiratory disease +GARD:0016947,GARD:0022531,GARD:0020944,,Rare genetic disease +GARD:0016947,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0016947,GARD:0022536,GARD:0021405,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016948,GARD:0022524,GARD:0021140,,Rare neurologic disease +GARD:0016948,GARD:0022531,GARD:0021140,,Rare genetic disease +GARD:0016949,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0016949,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0016949,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0016949,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0016950,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0016950,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0016951,GARD:0022513,GARD:0020000,GARD:0019889,Rare developmental defect during embryogenesis +GARD:0016951,GARD:0022528,GARD:0020000,GARD:0019890,Rare otorhinolaryngologic disease +GARD:0016951,GARD:0022513,GARD:0020000,GARD:0019890,Rare developmental defect during embryogenesis +GARD:0016951,GARD:0022528,GARD:0020000,GARD:0019889,Rare otorhinolaryngologic disease +GARD:0016952,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016952,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016952,GARD:0022513,GARD:0020887,,Rare developmental defect during embryogenesis +GARD:0016952,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016952,GARD:0022531,GARD:0020887,,Rare genetic disease +GARD:0016953,GARD:0022524,GARD:0019926,,Rare neurologic disease +GARD:0016953,GARD:0022531,GARD:0019926,,Rare genetic disease +GARD:0016954,GARD:0022531,GARD:0019926,GARD:0018265,Rare genetic disease +GARD:0016954,GARD:0022531,GARD:0019926,GARD:0018263,Rare genetic disease +GARD:0016954,GARD:0022524,GARD:0019926,GARD:0018262,Rare neurologic disease +GARD:0016954,GARD:0022531,GARD:0019926,GARD:0018264,Rare genetic disease +GARD:0016954,GARD:0022524,GARD:0019926,GARD:0018264,Rare neurologic disease +GARD:0016954,GARD:0022524,GARD:0019926,GARD:0018265,Rare neurologic disease +GARD:0016954,GARD:0022524,GARD:0019926,GARD:0018263,Rare neurologic disease +GARD:0016954,GARD:0022531,GARD:0019926,GARD:0018262,Rare genetic disease +GARD:0016955,GARD:0022524,GARD:0019926,GARD:0018268,Rare neurologic disease +GARD:0016955,GARD:0022524,GARD:0019926,GARD:0018266,Rare neurologic disease +GARD:0016955,GARD:0022531,GARD:0019926,GARD:0018266,Rare genetic disease +GARD:0016955,GARD:0022531,GARD:0019926,GARD:0018267,Rare genetic disease +GARD:0016955,GARD:0022524,GARD:0019926,GARD:0018267,Rare neurologic disease +GARD:0016955,GARD:0022531,GARD:0019926,GARD:0018268,Rare genetic disease +GARD:0016956,GARD:0022524,GARD:0019927,,Rare neurologic disease +GARD:0016956,GARD:0022531,GARD:0019927,,Rare genetic disease +GARD:0016957,GARD:0022524,GARD:0021724,,Rare neurologic disease +GARD:0016957,GARD:0022531,GARD:0021724,,Rare genetic disease +GARD:0016958,GARD:0022531,GARD:0019928,,Rare genetic disease +GARD:0016958,GARD:0022524,GARD:0019928,,Rare neurologic disease +GARD:0016959,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0016959,GARD:0022531,GARD:0019929,,Rare genetic disease +GARD:0016959,GARD:0022524,GARD:0019929,,Rare neurologic disease +GARD:0016959,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0016960,GARD:0022524,GARD:0019926,GARD:0018269,Rare neurologic disease +GARD:0016960,GARD:0022531,GARD:0019926,GARD:0018269,Rare genetic disease +GARD:0016960,GARD:0022524,GARD:0019926,GARD:0018270,Rare neurologic disease +GARD:0016960,GARD:0022531,GARD:0019926,GARD:0018270,Rare genetic disease +GARD:0016961,GARD:0022531,GARD:0020629,,Rare genetic disease +GARD:0016961,GARD:0022513,GARD:0020453,,Rare developmental defect during embryogenesis +GARD:0016961,GARD:0022527,GARD:0020453,,Rare circulatory system disease +GARD:0016961,GARD:0022535,GARD:0020453,,Rare neoplastic disease +GARD:0016961,GARD:0022511,GARD:0020629,,Rare bone disease +GARD:0016962,GARD:0022524,GARD:0019923,,Rare neurologic disease +GARD:0016962,GARD:0022531,GARD:0019923,,Rare genetic disease +GARD:0016963,GARD:0022511,GARD:0000985,,Rare bone disease +GARD:0016963,GARD:0022513,GARD:0000985,,Rare developmental defect during embryogenesis +GARD:0016963,GARD:0022531,GARD:0000985,,Rare genetic disease +GARD:0016964,GARD:0022521,GARD:0003924,,Rare endocrine disease +GARD:0016964,GARD:0022531,GARD:0003924,,Rare genetic disease +GARD:0016965,GARD:0022522,GARD:0020539,GARD:0018273,Rare hematologic disease +GARD:0016965,GARD:0022522,GARD:0020539,GARD:0018272,Rare hematologic disease +GARD:0016965,GARD:0022531,GARD:0020539,GARD:0018273,Rare genetic disease +GARD:0016965,GARD:0022531,GARD:0020539,GARD:0018272,Rare genetic disease +GARD:0016965,GARD:0022522,GARD:0020539,GARD:0018271,Rare hematologic disease +GARD:0016965,GARD:0022531,GARD:0020539,GARD:0018271,Rare genetic disease +GARD:0016966,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0016966,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0016966,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0016966,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0016966,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0016966,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0016966,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0016967,GARD:0022510,GARD:0019450,,Rare skin disease +GARD:0016967,GARD:0022531,GARD:0020685,,Rare genetic disease +GARD:0016967,GARD:0022531,GARD:0019450,,Rare genetic disease +GARD:0016968,GARD:0022528,GARD:0019973,,Rare otorhinolaryngologic disease +GARD:0016968,GARD:0022513,GARD:0019973,,Rare developmental defect during embryogenesis +GARD:0016969,GARD:0022528,GARD:0019999,GARD:0018275,Rare otorhinolaryngologic disease +GARD:0016969,GARD:0022528,GARD:0019999,GARD:0018274,Rare otorhinolaryngologic disease +GARD:0016969,GARD:0022531,GARD:0019999,GARD:0018275,Rare genetic disease +GARD:0016969,GARD:0022531,GARD:0019999,GARD:0018274,Rare genetic disease +GARD:0016969,GARD:0022513,GARD:0019999,GARD:0018274,Rare developmental defect during embryogenesis +GARD:0016969,GARD:0022513,GARD:0019999,GARD:0018275,Rare developmental defect during embryogenesis +GARD:0016970,GARD:0022513,GARD:0019973,,Rare developmental defect during embryogenesis +GARD:0016970,GARD:0022528,GARD:0019973,,Rare otorhinolaryngologic disease +GARD:0016971,GARD:0022507,GARD:0003342,,Rare maxillo-facial surgical disease +GARD:0016971,GARD:0022513,GARD:0003342,,Rare developmental defect during embryogenesis +GARD:0016971,GARD:0022531,GARD:0003342,,Rare genetic disease +GARD:0016972,GARD:0022507,GARD:0019995,GARD:0022264,Rare maxillo-facial surgical disease +GARD:0016972,GARD:0022507,GARD:0019995,GARD:0022263,Rare maxillo-facial surgical disease +GARD:0016972,GARD:0022531,GARD:0019995,GARD:0022263,Rare genetic disease +GARD:0016972,GARD:0022513,GARD:0019995,GARD:0022263,Rare developmental defect during embryogenesis +GARD:0016972,GARD:0022531,GARD:0019995,GARD:0022264,Rare genetic disease +GARD:0016972,GARD:0022513,GARD:0019995,GARD:0022264,Rare developmental defect during embryogenesis +GARD:0016973,GARD:0022513,GARD:0019975,,Rare developmental defect during embryogenesis +GARD:0016973,GARD:0022507,GARD:0019975,,Rare maxillo-facial surgical disease +GARD:0016974,GARD:0022507,GARD:0019967,,Rare maxillo-facial surgical disease +GARD:0016974,GARD:0022513,GARD:0019967,,Rare developmental defect during embryogenesis +GARD:0016974,GARD:0022531,GARD:0021740,,Rare genetic disease +GARD:0016975,GARD:0022513,GARD:0019970,,Rare developmental defect during embryogenesis +GARD:0016975,GARD:0022507,GARD:0019970,,Rare maxillo-facial surgical disease +GARD:0016975,GARD:0022531,GARD:0019970,,Rare genetic disease +GARD:0016976,GARD:0022513,GARD:0018754,,Rare developmental defect during embryogenesis +GARD:0016976,GARD:0022507,GARD:0018754,,Rare maxillo-facial surgical disease +GARD:0016977,GARD:0022521,GARD:0006735,,Rare endocrine disease +GARD:0016977,GARD:0022512,GARD:0006735,,Rare renal disease +GARD:0016977,GARD:0022531,GARD:0006735,,Rare genetic disease +GARD:0016977,GARD:0022513,GARD:0006735,,Rare developmental defect during embryogenesis +GARD:0016977,GARD:0022511,GARD:0006735,,Rare bone disease +GARD:0016978,GARD:0022531,GARD:0000231,,Rare genetic disease +GARD:0016978,GARD:0022524,GARD:0000231,,Rare neurologic disease +GARD:0016979,GARD:0022524,GARD:0000231,,Rare neurologic disease +GARD:0016979,GARD:0022531,GARD:0000231,,Rare genetic disease +GARD:0016980,GARD:0022531,GARD:0000231,,Rare genetic disease +GARD:0016980,GARD:0022524,GARD:0000231,,Rare neurologic disease +GARD:0016981,GARD:0022531,GARD:0019847,GARD:0018276,Rare genetic disease +GARD:0016981,GARD:0022536,GARD:0019847,GARD:0018276,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016981,GARD:0022535,GARD:0019847,GARD:0018276,Rare neoplastic disease +GARD:0016981,GARD:0022516,GARD:0019847,GARD:0018276,Rare gastroenterologic disease +GARD:0016981,GARD:0022531,GARD:0021548,GARD:0018276,Rare genetic disease +GARD:0016982,GARD:0022531,GARD:0021548,,Rare genetic disease +GARD:0016982,GARD:0022531,GARD:0019847,,Rare genetic disease +GARD:0016982,GARD:0022516,GARD:0019847,,Rare gastroenterologic disease +GARD:0016982,GARD:0022536,GARD:0019847,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016982,GARD:0022535,GARD:0019847,,Rare neoplastic disease +GARD:0016983,GARD:0022524,GARD:0021708,GARD:0018277,Rare neurologic disease +GARD:0016983,GARD:0022531,GARD:0021708,GARD:0018278,Rare genetic disease +GARD:0016983,GARD:0022531,GARD:0021708,GARD:0018277,Rare genetic disease +GARD:0016983,GARD:0022524,GARD:0021708,GARD:0018278,Rare neurologic disease +GARD:0016984,GARD:0022511,GARD:0002392,,Rare bone disease +GARD:0016984,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0016984,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0016984,GARD:0022513,GARD:0002392,,Rare developmental defect during embryogenesis +GARD:0016984,GARD:0022531,GARD:0002392,,Rare genetic disease +GARD:0016985,GARD:0022531,GARD:0021271,,Rare genetic disease +GARD:0016985,GARD:0022531,GARD:0021085,,Rare genetic disease +GARD:0016985,GARD:0022524,GARD:0021085,,Rare neurologic disease +GARD:0016985,GARD:0022524,GARD:0021271,,Rare neurologic disease +GARD:0016986,GARD:0022524,GARD:0020029,,Rare neurologic disease +GARD:0016986,GARD:0022531,GARD:0020029,,Rare genetic disease +GARD:0016986,GARD:0022524,GARD:0021267,,Rare neurologic disease +GARD:0016986,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0016986,GARD:0022531,GARD:0021285,,Rare genetic disease +GARD:0016987,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0016987,GARD:0022521,GARD:0019274,,Rare endocrine disease +GARD:0016987,GARD:0022531,GARD:0019274,,Rare genetic disease +GARD:0016987,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0016987,GARD:0022514,GARD:0020219,,Rare gynecologic or obstetric disease +GARD:0016987,GARD:0022531,GARD:0020219,,Rare genetic disease +GARD:0016987,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0016987,GARD:0022531,GARD:0021987,,Rare genetic disease +GARD:0016987,GARD:0022521,GARD:0020219,,Rare endocrine disease +GARD:0016987,GARD:0022529,GARD:0020219,,Rare infertility +GARD:0016988,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0016988,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0016988,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0016989,GARD:0022510,GARD:0008231,,Rare skin disease +GARD:0016989,GARD:0022525,GARD:0008231,,Rare systemic or rheumatologic disease +GARD:0016990,GARD:0022510,GARD:0022386,,Rare skin disease +GARD:0016990,GARD:0022531,GARD:0022386,,Rare genetic disease +GARD:0016991,GARD:0022510,GARD:0022387,,Rare skin disease +GARD:0016991,GARD:0022531,GARD:0022387,,Rare genetic disease +GARD:0016992,GARD:0022536,GARD:0000621,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016992,GARD:0022531,GARD:0000621,,Rare genetic disease +GARD:0016992,GARD:0022522,GARD:0000621,,Rare hematologic disease +GARD:0016993,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0016993,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016993,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0016993,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0016993,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0016993,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016993,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0016993,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016993,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0016993,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0016994,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0016994,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0016994,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0016995,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0016995,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0016995,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0016995,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0016995,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0016995,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0016996,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0016996,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0016996,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0016996,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0016996,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0016996,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0016997,GARD:0022531,GARD:0020083,,Rare genetic disease +GARD:0016997,GARD:0022524,GARD:0020083,,Rare neurologic disease +GARD:0016998,GARD:0022513,GARD:0020634,,Rare developmental defect during embryogenesis +GARD:0016998,GARD:0022531,GARD:0020634,,Rare genetic disease +GARD:0016998,GARD:0022512,GARD:0020634,,Rare renal disease +GARD:0016998,GARD:0022536,GARD:0020634,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016998,GARD:0022508,GARD:0020634,,Rare inborn errors of metabolism +GARD:0016999,GARD:0022513,GARD:0020634,,Rare developmental defect during embryogenesis +GARD:0016999,GARD:0022536,GARD:0020634,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0016999,GARD:0022531,GARD:0020634,,Rare genetic disease +GARD:0016999,GARD:0022512,GARD:0020634,,Rare renal disease +GARD:0016999,GARD:0022508,GARD:0020634,,Rare inborn errors of metabolism +GARD:0017000,GARD:0022524,GARD:0020083,,Rare neurologic disease +GARD:0017000,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0017000,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017000,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0017000,GARD:0022531,GARD:0020083,,Rare genetic disease +GARD:0017001,GARD:0022524,GARD:0002173,GARD:0018279,Rare neurologic disease +GARD:0017001,GARD:0022531,GARD:0002173,GARD:0018280,Rare genetic disease +GARD:0017001,GARD:0022531,GARD:0002173,GARD:0018279,Rare genetic disease +GARD:0017001,GARD:0022524,GARD:0002173,GARD:0018281,Rare neurologic disease +GARD:0017001,GARD:0022524,GARD:0002173,GARD:0018280,Rare neurologic disease +GARD:0017001,GARD:0022531,GARD:0002173,GARD:0018281,Rare genetic disease +GARD:0017002,GARD:0022524,GARD:0022440,GARD:0018282,Rare neurologic disease +GARD:0017002,GARD:0022524,GARD:0019437,GARD:0018282,Rare neurologic disease +GARD:0017002,GARD:0022531,GARD:0019437,GARD:0018282,Rare genetic disease +GARD:0017002,GARD:0022531,GARD:0022440,GARD:0018282,Rare genetic disease +GARD:0017003,GARD:0022531,GARD:0019437,,Rare genetic disease +GARD:0017003,GARD:0022524,GARD:0019437,,Rare neurologic disease +GARD:0017004,GARD:0022531,GARD:0022248,,Rare genetic disease +GARD:0017004,GARD:0022536,GARD:0019846,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017004,GARD:0022513,GARD:0022248,,Rare developmental defect during embryogenesis +GARD:0017004,GARD:0022531,GARD:0020271,,Rare genetic disease +GARD:0017004,GARD:0022510,GARD:0019005,,Rare skin disease +GARD:0017004,GARD:0022534,GARD:0022248,,Rare abdominal surgical disease +GARD:0017004,GARD:0022524,GARD:0010711,,Rare neurologic disease +GARD:0017004,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0017004,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017004,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017004,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017004,GARD:0022531,GARD:0019846,,Rare genetic disease +GARD:0017004,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0017004,GARD:0022536,GARD:0022248,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017004,GARD:0022516,GARD:0019846,,Rare gastroenterologic disease +GARD:0017004,GARD:0022531,GARD:0010711,,Rare genetic disease +GARD:0017005,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017005,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017005,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017006,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0017006,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0017006,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0017006,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017006,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017006,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017007,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017007,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017007,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0017007,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0017007,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0017007,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017008,GARD:0022531,GARD:0020233,,Rare genetic disease +GARD:0017008,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017008,GARD:0022529,GARD:0020233,,Rare infertility +GARD:0017008,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017008,GARD:0022521,GARD:0020233,,Rare endocrine disease +GARD:0017008,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017009,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017009,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017009,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017010,GARD:0022524,GARD:0021281,,Rare neurologic disease +GARD:0017010,GARD:0022524,GARD:0016584,,Rare neurologic disease +GARD:0017010,GARD:0022531,GARD:0020287,,Rare genetic disease +GARD:0017010,GARD:0022531,GARD:0016584,,Rare genetic disease +GARD:0017011,GARD:0022531,GARD:0002173,GARD:0018283,Rare genetic disease +GARD:0017011,GARD:0022524,GARD:0002173,GARD:0018283,Rare neurologic disease +GARD:0017012,GARD:0022513,GARD:0010756,,Rare developmental defect during embryogenesis +GARD:0017012,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0017012,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0017012,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0017012,GARD:0022531,GARD:0010756,,Rare genetic disease +GARD:0017012,GARD:0022511,GARD:0010756,,Rare bone disease +GARD:0017013,GARD:0022531,GARD:0010756,,Rare genetic disease +GARD:0017013,GARD:0022513,GARD:0010756,,Rare developmental defect during embryogenesis +GARD:0017013,GARD:0022511,GARD:0010756,,Rare bone disease +GARD:0017014,GARD:0022513,GARD:0010756,,Rare developmental defect during embryogenesis +GARD:0017014,GARD:0022531,GARD:0010756,,Rare genetic disease +GARD:0017014,GARD:0022511,GARD:0010756,,Rare bone disease +GARD:0017015,GARD:0022513,GARD:0010756,,Rare developmental defect during embryogenesis +GARD:0017015,GARD:0022511,GARD:0010756,,Rare bone disease +GARD:0017015,GARD:0022531,GARD:0010756,,Rare genetic disease +GARD:0017016,GARD:0022511,GARD:0010756,,Rare bone disease +GARD:0017016,GARD:0022513,GARD:0010756,,Rare developmental defect during embryogenesis +GARD:0017016,GARD:0022531,GARD:0010756,,Rare genetic disease +GARD:0017017,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0017017,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017017,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0017017,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017017,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017017,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0017017,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0017017,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0017018,GARD:0022511,GARD:0019192,,Rare bone disease +GARD:0017018,GARD:0022513,GARD:0019192,,Rare developmental defect during embryogenesis +GARD:0017018,GARD:0022531,GARD:0019192,,Rare genetic disease +GARD:0017019,GARD:0022522,GARD:0007867,,Rare hematologic disease +GARD:0017019,GARD:0022531,GARD:0007867,,Rare genetic disease +GARD:0017020,GARD:0022531,GARD:0007867,GARD:0017021,Rare genetic disease +GARD:0017020,GARD:0022531,GARD:0007867,GARD:0017022,Rare genetic disease +GARD:0017020,GARD:0022531,GARD:0007867,GARD:0017024,Rare genetic disease +GARD:0017020,GARD:0022522,GARD:0007867,GARD:0017023,Rare hematologic disease +GARD:0017020,GARD:0022522,GARD:0007867,GARD:0017022,Rare hematologic disease +GARD:0017020,GARD:0022531,GARD:0007867,GARD:0017023,Rare genetic disease +GARD:0017020,GARD:0022522,GARD:0007867,GARD:0017024,Rare hematologic disease +GARD:0017020,GARD:0022522,GARD:0007867,GARD:0017021,Rare hematologic disease +GARD:0017021,GARD:0022522,GARD:0017020,,Rare hematologic disease +GARD:0017021,GARD:0022531,GARD:0017020,,Rare genetic disease +GARD:0017022,GARD:0022531,GARD:0017020,,Rare genetic disease +GARD:0017022,GARD:0022522,GARD:0017020,,Rare hematologic disease +GARD:0017023,GARD:0022531,GARD:0017020,,Rare genetic disease +GARD:0017023,GARD:0022522,GARD:0017020,,Rare hematologic disease +GARD:0017024,GARD:0022522,GARD:0017020,,Rare hematologic disease +GARD:0017024,GARD:0022531,GARD:0017020,,Rare genetic disease +GARD:0017025,GARD:0022531,GARD:0007867,,Rare genetic disease +GARD:0017025,GARD:0022522,GARD:0007867,,Rare hematologic disease +GARD:0017026,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017026,GARD:0022531,GARD:0020760,,Rare genetic disease +GARD:0017026,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017026,GARD:0022508,GARD:0020760,,Rare inborn errors of metabolism +GARD:0017027,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0017027,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0017027,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0017027,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017028,GARD:0022531,GARD:0019437,GARD:0018286,Rare genetic disease +GARD:0017028,GARD:0022524,GARD:0018688,GARD:0018286,Rare neurologic disease +GARD:0017028,GARD:0022524,GARD:0018688,GARD:0018287,Rare neurologic disease +GARD:0017028,GARD:0022531,GARD:0019437,GARD:0018287,Rare genetic disease +GARD:0017029,GARD:0022524,GARD:0018688,,Rare neurologic disease +GARD:0017030,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0017030,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0017030,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0017031,GARD:0022524,GARD:0010739,GARD:0001218,Rare neurologic disease +GARD:0017031,GARD:0022531,GARD:0022108,GARD:0001218,Rare genetic disease +GARD:0017031,GARD:0022524,GARD:0007140,GARD:0001218,Rare neurologic disease +GARD:0017031,GARD:0022520,GARD:0022108,GARD:0001218,Rare ophthalmic disorder +GARD:0017031,GARD:0022531,GARD:0007140,GARD:0001218,Rare genetic disease +GARD:0017031,GARD:0022531,GARD:0010739,GARD:0001218,Rare genetic disease +GARD:0017031,GARD:0022508,GARD:0010739,GARD:0001218,Rare inborn errors of metabolism +GARD:0017032,GARD:0022520,GARD:0022108,GARD:0001223,Rare ophthalmic disorder +GARD:0017032,GARD:0022524,GARD:0010739,GARD:0001224,Rare neurologic disease +GARD:0017032,GARD:0022524,GARD:0010739,GARD:0001219,Rare neurologic disease +GARD:0017032,GARD:0022531,GARD:0007140,GARD:0001224,Rare genetic disease +GARD:0017032,GARD:0022531,GARD:0010739,GARD:0003045,Rare genetic disease +GARD:0017032,GARD:0022531,GARD:0007140,GARD:0003045,Rare genetic disease +GARD:0017032,GARD:0022531,GARD:0007140,GARD:0017152,Rare genetic disease +GARD:0017032,GARD:0022531,GARD:0022108,GARD:0001219,Rare genetic disease +GARD:0017032,GARD:0022524,GARD:0010739,GARD:0017152,Rare neurologic disease +GARD:0017032,GARD:0022508,GARD:0010739,GARD:0001223,Rare inborn errors of metabolism +GARD:0017032,GARD:0022524,GARD:0007140,GARD:0001223,Rare neurologic disease +GARD:0017032,GARD:0022520,GARD:0022108,GARD:0003045,Rare ophthalmic disorder +GARD:0017032,GARD:0022531,GARD:0010739,GARD:0001219,Rare genetic disease +GARD:0017032,GARD:0022531,GARD:0010739,GARD:0001224,Rare genetic disease +GARD:0017032,GARD:0022531,GARD:0010739,GARD:0017152,Rare genetic disease +GARD:0017032,GARD:0022508,GARD:0010739,GARD:0003045,Rare inborn errors of metabolism +GARD:0017032,GARD:0022524,GARD:0007140,GARD:0001219,Rare neurologic disease +GARD:0017032,GARD:0022531,GARD:0007140,GARD:0001223,Rare genetic disease +GARD:0017032,GARD:0022524,GARD:0007140,GARD:0017152,Rare neurologic disease +GARD:0017032,GARD:0022520,GARD:0022108,GARD:0001220,Rare ophthalmic disorder +GARD:0017032,GARD:0022531,GARD:0022108,GARD:0001224,Rare genetic disease +GARD:0017032,GARD:0022508,GARD:0010739,GARD:0001218,Rare inborn errors of metabolism +GARD:0017032,GARD:0022531,GARD:0007140,GARD:0001220,Rare genetic disease +GARD:0017032,GARD:0022531,GARD:0007140,GARD:0001219,Rare genetic disease +GARD:0017032,GARD:0022531,GARD:0007140,GARD:0001218,Rare genetic disease +GARD:0017032,GARD:0022531,GARD:0010739,GARD:0001218,Rare genetic disease +GARD:0017032,GARD:0022524,GARD:0010739,GARD:0001218,Rare neurologic disease +GARD:0017032,GARD:0022531,GARD:0010739,GARD:0001223,Rare genetic disease +GARD:0017032,GARD:0022524,GARD:0010739,GARD:0003045,Rare neurologic disease +GARD:0017032,GARD:0022520,GARD:0022108,GARD:0001219,Rare ophthalmic disorder +GARD:0017032,GARD:0022524,GARD:0007140,GARD:0001220,Rare neurologic disease +GARD:0017032,GARD:0022520,GARD:0022108,GARD:0001224,Rare ophthalmic disorder +GARD:0017032,GARD:0022520,GARD:0022108,GARD:0001218,Rare ophthalmic disorder +GARD:0017032,GARD:0022524,GARD:0007140,GARD:0003045,Rare neurologic disease +GARD:0017032,GARD:0022531,GARD:0022108,GARD:0001218,Rare genetic disease +GARD:0017032,GARD:0022524,GARD:0007140,GARD:0001224,Rare neurologic disease +GARD:0017032,GARD:0022508,GARD:0010739,GARD:0001220,Rare inborn errors of metabolism +GARD:0017032,GARD:0022531,GARD:0022108,GARD:0001223,Rare genetic disease +GARD:0017032,GARD:0022531,GARD:0022108,GARD:0003045,Rare genetic disease +GARD:0017032,GARD:0022524,GARD:0007140,GARD:0001218,Rare neurologic disease +GARD:0017032,GARD:0022531,GARD:0022108,GARD:0001220,Rare genetic disease +GARD:0017032,GARD:0022520,GARD:0022108,GARD:0017152,Rare ophthalmic disorder +GARD:0017032,GARD:0022524,GARD:0010739,GARD:0001223,Rare neurologic disease +GARD:0017032,GARD:0022524,GARD:0010739,GARD:0001220,Rare neurologic disease +GARD:0017032,GARD:0022531,GARD:0010739,GARD:0001220,Rare genetic disease +GARD:0017032,GARD:0022508,GARD:0010739,GARD:0001224,Rare inborn errors of metabolism +GARD:0017032,GARD:0022508,GARD:0010739,GARD:0001219,Rare inborn errors of metabolism +GARD:0017032,GARD:0022531,GARD:0022108,GARD:0017152,Rare genetic disease +GARD:0017032,GARD:0022508,GARD:0010739,GARD:0017152,Rare inborn errors of metabolism +GARD:0017033,GARD:0022521,GARD:0019804,,Rare endocrine disease +GARD:0017033,GARD:0022536,GARD:0019150,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017033,GARD:0022513,GARD:0019150,,Rare developmental defect during embryogenesis +GARD:0017033,GARD:0022514,GARD:0019150,,Rare gynecologic or obstetric disease +GARD:0017033,GARD:0022531,GARD:0019150,,Rare genetic disease +GARD:0017033,GARD:0022521,GARD:0019150,,Rare endocrine disease +GARD:0017033,GARD:0022531,GARD:0019804,,Rare genetic disease +GARD:0017033,GARD:0022532,GARD:0019150,,Rare urogenital disease +GARD:0017034,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0017034,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0017034,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0017034,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017034,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0017034,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0017034,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0017035,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017035,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017036,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017036,GARD:0022531,GARD:0019456,,Rare genetic disease +GARD:0017036,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017036,GARD:0022522,GARD:0019456,,Rare hematologic disease +GARD:0017037,GARD:0022506,GARD:0015255,,Rare hepatic disease +GARD:0017037,GARD:0022508,GARD:0015255,,Rare inborn errors of metabolism +GARD:0017037,GARD:0022531,GARD:0015255,,Rare genetic disease +GARD:0017037,GARD:0022536,GARD:0015255,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017038,GARD:0022531,GARD:0019844,,Rare genetic disease +GARD:0017038,GARD:0022516,GARD:0019844,,Rare gastroenterologic disease +GARD:0017039,GARD:0022531,GARD:0020260,,Rare genetic disease +GARD:0017039,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0017040,GARD:0022531,GARD:0021873,,Rare genetic disease +GARD:0017041,GARD:0022531,GARD:0017267,GARD:0005191,Rare genetic disease +GARD:0017041,GARD:0022522,GARD:0017267,GARD:0005191,Rare hematologic disease +GARD:0017041,GARD:0022522,GARD:0017267,GARD:0018288,Rare hematologic disease +GARD:0017041,GARD:0022531,GARD:0017267,GARD:0018288,Rare genetic disease +GARD:0017041,GARD:0022531,GARD:0017267,GARD:0018289,Rare genetic disease +GARD:0017041,GARD:0022522,GARD:0017267,GARD:0018289,Rare hematologic disease +GARD:0017042,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0017042,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0017042,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0017043,GARD:0022522,GARD:0020105,,Rare hematologic disease +GARD:0017043,GARD:0022535,GARD:0020105,,Rare neoplastic disease +GARD:0017043,GARD:0022536,GARD:0020105,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017044,GARD:0022527,GARD:0020465,,Rare circulatory system disease +GARD:0017044,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0017044,GARD:0022513,GARD:0020465,,Rare developmental defect during embryogenesis +GARD:0017044,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0017045,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0017045,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0017045,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017045,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0017045,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0017046,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0017046,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017046,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0017047,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0017047,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0017047,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017048,GARD:0022531,GARD:0021510,GARD:0010523,Rare genetic disease +GARD:0017048,GARD:0022536,GARD:0022063,GARD:0010524,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017048,GARD:0022523,GARD:0021510,GARD:0010523,Rare immune disease +GARD:0017048,GARD:0022536,GARD:0022063,GARD:0010523,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017048,GARD:0022523,GARD:0021510,GARD:0010524,Rare immune disease +GARD:0017048,GARD:0022531,GARD:0021510,GARD:0010524,Rare genetic disease +GARD:0017049,GARD:0022536,GARD:0022148,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017049,GARD:0022523,GARD:0020116,,Rare immune disease +GARD:0017049,GARD:0022531,GARD:0020116,,Rare genetic disease +GARD:0017049,GARD:0022531,GARD:0022148,,Rare genetic disease +GARD:0017049,GARD:0022516,GARD:0022148,,Rare gastroenterologic disease +GARD:0017049,GARD:0022536,GARD:0020116,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017050,GARD:0022523,GARD:0021919,GARD:0018292,Rare immune disease +GARD:0017050,GARD:0022523,GARD:0021919,GARD:0002191,Rare immune disease +GARD:0017050,GARD:0022523,GARD:0021919,GARD:0018291,Rare immune disease +GARD:0017050,GARD:0022531,GARD:0021919,GARD:0018292,Rare genetic disease +GARD:0017050,GARD:0022531,GARD:0021919,GARD:0002191,Rare genetic disease +GARD:0017050,GARD:0022523,GARD:0021919,GARD:0018290,Rare immune disease +GARD:0017050,GARD:0022523,GARD:0021919,GARD:0010626,Rare immune disease +GARD:0017050,GARD:0022531,GARD:0021919,GARD:0018291,Rare genetic disease +GARD:0017050,GARD:0022531,GARD:0021919,GARD:0010626,Rare genetic disease +GARD:0017050,GARD:0022523,GARD:0021919,GARD:0010625,Rare immune disease +GARD:0017050,GARD:0022531,GARD:0021919,GARD:0018290,Rare genetic disease +GARD:0017050,GARD:0022531,GARD:0021919,GARD:0010625,Rare genetic disease +GARD:0017051,GARD:0022531,GARD:0021405,,Rare genetic disease +GARD:0017051,GARD:0022536,GARD:0021405,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017051,GARD:0022523,GARD:0021405,,Rare immune disease +GARD:0017052,GARD:0022523,GARD:0021405,,Rare immune disease +GARD:0017052,GARD:0022531,GARD:0021405,,Rare genetic disease +GARD:0017052,GARD:0022536,GARD:0021405,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017053,GARD:0022531,GARD:0021405,GARD:0018295,Rare genetic disease +GARD:0017053,GARD:0022531,GARD:0021405,GARD:0018296,Rare genetic disease +GARD:0017053,GARD:0022531,GARD:0021405,GARD:0018294,Rare genetic disease +GARD:0017053,GARD:0022523,GARD:0021405,GARD:0018293,Rare immune disease +GARD:0017053,GARD:0022523,GARD:0021405,GARD:0018296,Rare immune disease +GARD:0017053,GARD:0022523,GARD:0021405,GARD:0018294,Rare immune disease +GARD:0017053,GARD:0022536,GARD:0021405,GARD:0018296,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017053,GARD:0022536,GARD:0021405,GARD:0018293,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017053,GARD:0022531,GARD:0021405,GARD:0018293,Rare genetic disease +GARD:0017053,GARD:0022536,GARD:0021405,GARD:0018295,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017053,GARD:0022523,GARD:0021405,GARD:0018295,Rare immune disease +GARD:0017053,GARD:0022536,GARD:0021405,GARD:0018294,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017054,GARD:0022522,GARD:0019455,,Rare hematologic disease +GARD:0017054,GARD:0022523,GARD:0021920,,Rare immune disease +GARD:0017054,GARD:0022531,GARD:0019455,,Rare genetic disease +GARD:0017054,GARD:0022531,GARD:0021920,,Rare genetic disease +GARD:0017054,GARD:0022531,GARD:0010711,,Rare genetic disease +GARD:0017054,GARD:0022524,GARD:0010711,,Rare neurologic disease +GARD:0017055,GARD:0022523,GARD:0021920,,Rare immune disease +GARD:0017055,GARD:0022531,GARD:0021920,,Rare genetic disease +GARD:0017056,GARD:0022531,GARD:0008732,,Rare genetic disease +GARD:0017056,GARD:0022522,GARD:0008732,,Rare hematologic disease +GARD:0017057,GARD:0022531,GARD:0008732,,Rare genetic disease +GARD:0017057,GARD:0022522,GARD:0008732,,Rare hematologic disease +GARD:0017058,GARD:0022531,GARD:0008732,,Rare genetic disease +GARD:0017058,GARD:0022522,GARD:0008732,,Rare hematologic disease +GARD:0017059,GARD:0022522,GARD:0006591,,Rare hematologic disease +GARD:0017059,GARD:0022531,GARD:0006591,,Rare genetic disease +GARD:0017060,GARD:0022522,GARD:0006591,,Rare hematologic disease +GARD:0017060,GARD:0022531,GARD:0006591,,Rare genetic disease +GARD:0017061,GARD:0022522,GARD:0006591,,Rare hematologic disease +GARD:0017061,GARD:0022531,GARD:0006591,,Rare genetic disease +GARD:0017062,GARD:0022531,GARD:0010529,,Rare genetic disease +GARD:0017062,GARD:0022524,GARD:0010529,,Rare neurologic disease +GARD:0017062,GARD:0022531,GARD:0020428,,Rare genetic disease +GARD:0017063,GARD:0022531,GARD:0021428,,Rare genetic disease +GARD:0017063,GARD:0022524,GARD:0021428,,Rare neurologic disease +GARD:0017064,GARD:0022531,GARD:0019771,,Rare genetic disease +GARD:0017064,GARD:0022524,GARD:0019771,,Rare neurologic disease +GARD:0017065,GARD:0022524,GARD:0019770,,Rare neurologic disease +GARD:0017065,GARD:0022531,GARD:0019770,,Rare genetic disease +GARD:0017066,GARD:0022513,GARD:0012291,,Rare developmental defect during embryogenesis +GARD:0017066,GARD:0022531,GARD:0012291,,Rare genetic disease +GARD:0017066,GARD:0022524,GARD:0012291,,Rare neurologic disease +GARD:0017067,GARD:0022524,GARD:0019472,,Rare neurologic disease +GARD:0017067,GARD:0022531,GARD:0019472,,Rare genetic disease +GARD:0017068,GARD:0022521,GARD:0022390,,Rare endocrine disease +GARD:0017068,GARD:0022531,GARD:0022390,,Rare genetic disease +GARD:0017069,GARD:0022531,GARD:0021129,,Rare genetic disease +GARD:0017069,GARD:0022531,GARD:0019905,,Rare genetic disease +GARD:0017069,GARD:0022525,GARD:0021129,,Rare systemic or rheumatologic disease +GARD:0017069,GARD:0022513,GARD:0019905,,Rare developmental defect during embryogenesis +GARD:0017070,GARD:0022531,GARD:0022173,,Rare genetic disease +GARD:0017070,GARD:0022513,GARD:0019905,,Rare developmental defect during embryogenesis +GARD:0017070,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0017070,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0017070,GARD:0022531,GARD:0019905,,Rare genetic disease +GARD:0017070,GARD:0022513,GARD:0022092,,Rare developmental defect during embryogenesis +GARD:0017070,GARD:0022520,GARD:0022092,,Rare ophthalmic disorder +GARD:0017071,GARD:0022531,GARD:0021518,,Rare genetic disease +GARD:0017071,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017071,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0017071,GARD:0022524,GARD:0012733,,Rare neurologic disease +GARD:0017071,GARD:0022531,GARD:0012733,,Rare genetic disease +GARD:0017071,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017071,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017071,GARD:0022508,GARD:0021518,,Rare inborn errors of metabolism +GARD:0017071,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0017072,GARD:0022508,GARD:0021354,,Rare inborn errors of metabolism +GARD:0017072,GARD:0022531,GARD:0021112,,Rare genetic disease +GARD:0017072,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017072,GARD:0022531,GARD:0021354,,Rare genetic disease +GARD:0017072,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017072,GARD:0022531,GARD:0020262,,Rare genetic disease +GARD:0017072,GARD:0022510,GARD:0021112,,Rare skin disease +GARD:0017072,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017072,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017072,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017072,GARD:0022510,GARD:0018986,,Rare skin disease +GARD:0017073,GARD:0022524,GARD:0019771,,Rare neurologic disease +GARD:0017073,GARD:0022531,GARD:0019771,,Rare genetic disease +GARD:0017074,GARD:0022529,GARD:0005575,,Rare infertility +GARD:0017074,GARD:0022531,GARD:0005575,,Rare genetic disease +GARD:0017074,GARD:0022513,GARD:0005575,,Rare developmental defect during embryogenesis +GARD:0017074,GARD:0022514,GARD:0005575,,Rare gynecologic or obstetric disease +GARD:0017074,GARD:0022521,GARD:0005575,,Rare endocrine disease +GARD:0017074,GARD:0022524,GARD:0005575,,Rare neurologic disease +GARD:0017075,GARD:0022521,GARD:0005575,,Rare endocrine disease +GARD:0017075,GARD:0022531,GARD:0005575,,Rare genetic disease +GARD:0017075,GARD:0022513,GARD:0005575,,Rare developmental defect during embryogenesis +GARD:0017075,GARD:0022514,GARD:0005575,,Rare gynecologic or obstetric disease +GARD:0017075,GARD:0022529,GARD:0005575,,Rare infertility +GARD:0017075,GARD:0022524,GARD:0005575,,Rare neurologic disease +GARD:0017076,GARD:0022522,GARD:0006591,,Rare hematologic disease +GARD:0017076,GARD:0022531,GARD:0006591,,Rare genetic disease +GARD:0017077,GARD:0022522,GARD:0008732,,Rare hematologic disease +GARD:0017077,GARD:0022531,GARD:0008732,,Rare genetic disease +GARD:0017078,GARD:0022531,GARD:0016536,,Rare genetic disease +GARD:0017078,GARD:0022531,GARD:0019567,,Rare genetic disease +GARD:0017078,GARD:0022524,GARD:0019567,,Rare neurologic disease +GARD:0017078,GARD:0022524,GARD:0016536,,Rare neurologic disease +GARD:0017079,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0017079,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0017080,GARD:0022531,GARD:0020362,,Rare genetic disease +GARD:0017080,GARD:0022524,GARD:0020362,,Rare neurologic disease +GARD:0017080,GARD:0022531,GARD:0002003,,Rare genetic disease +GARD:0017081,GARD:0022531,GARD:0020360,,Rare genetic disease +GARD:0017081,GARD:0022524,GARD:0020360,,Rare neurologic disease +GARD:0017082,GARD:0022531,GARD:0018915,GARD:0018298,Rare genetic disease +GARD:0017082,GARD:0022524,GARD:0022524,GARD:0018298,Rare neurologic disease +GARD:0017082,GARD:0022531,GARD:0018915,GARD:0018297,Rare genetic disease +GARD:0017082,GARD:0022524,GARD:0022524,GARD:0018297,Rare neurologic disease +GARD:0017083,GARD:0022521,GARD:0020220,,Rare endocrine disease +GARD:0017083,GARD:0022531,GARD:0020220,,Rare genetic disease +GARD:0017083,GARD:0022514,GARD:0020220,,Rare gynecologic or obstetric disease +GARD:0017083,GARD:0022531,GARD:0020169,,Rare genetic disease +GARD:0017083,GARD:0022521,GARD:0020169,,Rare endocrine disease +GARD:0017083,GARD:0022529,GARD:0020220,,Rare infertility +GARD:0017084,GARD:0022536,GARD:0021981,GARD:0000073,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017084,GARD:0022531,GARD:0021981,GARD:0000073,Rare genetic disease +GARD:0017084,GARD:0022536,GARD:0021981,GARD:0010579,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017084,GARD:0022531,GARD:0021981,GARD:0010579,Rare genetic disease +GARD:0017084,GARD:0022523,GARD:0021981,GARD:0010579,Rare immune disease +GARD:0017084,GARD:0022523,GARD:0021981,GARD:0000073,Rare immune disease +GARD:0017085,GARD:0022536,GARD:0021513,GARD:0010578,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017085,GARD:0022536,GARD:0021513,GARD:0010580,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017085,GARD:0022531,GARD:0021513,GARD:0010580,Rare genetic disease +GARD:0017085,GARD:0022536,GARD:0021513,GARD:0010581,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017085,GARD:0022523,GARD:0021513,GARD:0010580,Rare immune disease +GARD:0017085,GARD:0022523,GARD:0021513,GARD:0010578,Rare immune disease +GARD:0017085,GARD:0022531,GARD:0021513,GARD:0010581,Rare genetic disease +GARD:0017085,GARD:0022531,GARD:0021513,GARD:0010578,Rare genetic disease +GARD:0017085,GARD:0022523,GARD:0021513,GARD:0010581,Rare immune disease +GARD:0017086,GARD:0022523,GARD:0021512,,Rare immune disease +GARD:0017086,GARD:0022531,GARD:0021512,,Rare genetic disease +GARD:0017087,GARD:0022531,GARD:0020321,GARD:0018299,Rare genetic disease +GARD:0017087,GARD:0022523,GARD:0020321,GARD:0018300,Rare immune disease +GARD:0017087,GARD:0022531,GARD:0020321,GARD:0018300,Rare genetic disease +GARD:0017087,GARD:0022523,GARD:0020321,GARD:0018299,Rare immune disease +GARD:0017088,GARD:0022531,GARD:0002910,,Rare genetic disease +GARD:0017088,GARD:0022521,GARD:0002910,,Rare endocrine disease +GARD:0017088,GARD:0022520,GARD:0002910,,Rare ophthalmic disorder +GARD:0017089,GARD:0022531,GARD:0020275,,Rare genetic disease +GARD:0017089,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0017090,GARD:0022531,GARD:0021352,GARD:0018302,Rare genetic disease +GARD:0017090,GARD:0022508,GARD:0021352,GARD:0018302,Rare inborn errors of metabolism +GARD:0017090,GARD:0022508,GARD:0021352,GARD:0018301,Rare inborn errors of metabolism +GARD:0017090,GARD:0022531,GARD:0021352,GARD:0018301,Rare genetic disease +GARD:0017091,GARD:0022513,GARD:0018754,,Rare developmental defect during embryogenesis +GARD:0017091,GARD:0022507,GARD:0018754,,Rare maxillo-facial surgical disease +GARD:0017092,GARD:0022513,GARD:0018754,GARD:0018304,Rare developmental defect during embryogenesis +GARD:0017092,GARD:0022507,GARD:0018754,GARD:0018305,Rare maxillo-facial surgical disease +GARD:0017092,GARD:0022507,GARD:0018754,GARD:0018307,Rare maxillo-facial surgical disease +GARD:0017092,GARD:0022507,GARD:0018754,GARD:0018306,Rare maxillo-facial surgical disease +GARD:0017092,GARD:0022507,GARD:0018754,GARD:0018304,Rare maxillo-facial surgical disease +GARD:0017092,GARD:0022507,GARD:0018754,GARD:0018308,Rare maxillo-facial surgical disease +GARD:0017092,GARD:0022513,GARD:0018754,GARD:0018306,Rare developmental defect during embryogenesis +GARD:0017092,GARD:0022513,GARD:0018754,GARD:0018307,Rare developmental defect during embryogenesis +GARD:0017092,GARD:0022513,GARD:0018754,GARD:0018305,Rare developmental defect during embryogenesis +GARD:0017092,GARD:0022507,GARD:0018754,GARD:0018303,Rare maxillo-facial surgical disease +GARD:0017092,GARD:0022513,GARD:0018754,GARD:0018308,Rare developmental defect during embryogenesis +GARD:0017092,GARD:0022513,GARD:0018754,GARD:0018303,Rare developmental defect during embryogenesis +GARD:0017093,GARD:0022511,GARD:0021572,GARD:0017336,Rare bone disease +GARD:0017093,GARD:0022513,GARD:0019871,GARD:0017337,Rare developmental defect during embryogenesis +GARD:0017093,GARD:0022513,GARD:0021572,GARD:0017177,Rare developmental defect during embryogenesis +GARD:0017093,GARD:0022531,GARD:0021728,GARD:0017337,Rare genetic disease +GARD:0017093,GARD:0022511,GARD:0021572,GARD:0017177,Rare bone disease +GARD:0017093,GARD:0022531,GARD:0021726,GARD:0017177,Rare genetic disease +GARD:0017093,GARD:0022531,GARD:0021728,GARD:0017177,Rare genetic disease +GARD:0017093,GARD:0022531,GARD:0021726,GARD:0017336,Rare genetic disease +GARD:0017093,GARD:0022513,GARD:0019871,GARD:0017177,Rare developmental defect during embryogenesis +GARD:0017093,GARD:0022513,GARD:0021572,GARD:0017337,Rare developmental defect during embryogenesis +GARD:0017093,GARD:0022511,GARD:0021572,GARD:0017337,Rare bone disease +GARD:0017093,GARD:0022513,GARD:0019871,GARD:0017336,Rare developmental defect during embryogenesis +GARD:0017093,GARD:0022513,GARD:0021572,GARD:0017336,Rare developmental defect during embryogenesis +GARD:0017093,GARD:0022531,GARD:0021726,GARD:0017337,Rare genetic disease +GARD:0017093,GARD:0022531,GARD:0021728,GARD:0017336,Rare genetic disease +GARD:0017094,GARD:0022531,GARD:0019804,,Rare genetic disease +GARD:0017094,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0017094,GARD:0022531,GARD:0021573,,Rare genetic disease +GARD:0017094,GARD:0022521,GARD:0019804,,Rare endocrine disease +GARD:0017094,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0017094,GARD:0022511,GARD:0021573,,Rare bone disease +GARD:0017094,GARD:0022513,GARD:0021573,,Rare developmental defect during embryogenesis +GARD:0017095,GARD:0022531,GARD:0021172,,Rare genetic disease +GARD:0017095,GARD:0022508,GARD:0018771,,Rare inborn errors of metabolism +GARD:0017095,GARD:0022516,GARD:0019787,,Rare gastroenterologic disease +GARD:0017095,GARD:0022522,GARD:0021172,,Rare hematologic disease +GARD:0017095,GARD:0022531,GARD:0018771,,Rare genetic disease +GARD:0017095,GARD:0022531,GARD:0020062,,Rare genetic disease +GARD:0017096,GARD:0022524,GARD:0010529,,Rare neurologic disease +GARD:0017096,GARD:0022531,GARD:0010529,,Rare genetic disease +GARD:0017097,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0017097,GARD:0022531,GARD:0021231,,Rare genetic disease +GARD:0017097,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0017097,GARD:0022508,GARD:0021231,,Rare inborn errors of metabolism +GARD:0017098,GARD:0022523,GARD:0021920,,Rare immune disease +GARD:0017098,GARD:0022531,GARD:0021920,,Rare genetic disease +GARD:0017099,GARD:0022531,GARD:0021920,,Rare genetic disease +GARD:0017099,GARD:0022523,GARD:0021920,,Rare immune disease +GARD:0017100,GARD:0022532,GARD:0021549,,Rare urogenital disease +GARD:0017100,GARD:0022535,GARD:0021650,,Rare neoplastic disease +GARD:0017100,GARD:0022514,GARD:0021650,,Rare gynecologic or obstetric disease +GARD:0017100,GARD:0022535,GARD:0021549,,Rare neoplastic disease +GARD:0017101,GARD:0022531,GARD:0020368,,Rare genetic disease +GARD:0017101,GARD:0022524,GARD:0020368,,Rare neurologic disease +GARD:0017102,GARD:0022524,GARD:0020454,,Rare neurologic disease +GARD:0017102,GARD:0022531,GARD:0020454,,Rare genetic disease +GARD:0017103,GARD:0022524,GARD:0019435,,Rare neurologic disease +GARD:0017103,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0017103,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0017103,GARD:0022531,GARD:0019435,,Rare genetic disease +GARD:0017104,GARD:0022520,GARD:0022103,,Rare ophthalmic disorder +GARD:0017104,GARD:0022531,GARD:0022182,,Rare genetic disease +GARD:0017105,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0017106,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0017107,GARD:0022524,GARD:0020457,,Rare neurologic disease +GARD:0017107,GARD:0022531,GARD:0020457,,Rare genetic disease +GARD:0017108,GARD:0022531,GARD:0020457,,Rare genetic disease +GARD:0017108,GARD:0022524,GARD:0020457,,Rare neurologic disease +GARD:0017109,GARD:0022531,GARD:0018915,GARD:0018309,Rare genetic disease +GARD:0017109,GARD:0022524,GARD:0022524,GARD:0018309,Rare neurologic disease +GARD:0017109,GARD:0022531,GARD:0018915,GARD:0018310,Rare genetic disease +GARD:0017109,GARD:0022524,GARD:0022524,GARD:0018310,Rare neurologic disease +GARD:0017110,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0017110,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0017111,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0017111,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0017111,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0017111,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0017112,GARD:0022524,GARD:0021001,GARD:0015729,Rare neurologic disease +GARD:0017112,GARD:0022524,GARD:0019832,GARD:0015729,Rare neurologic disease +GARD:0017112,GARD:0022531,GARD:0022441,GARD:0015729,Rare genetic disease +GARD:0017112,GARD:0022513,GARD:0021001,GARD:0015729,Rare developmental defect during embryogenesis +GARD:0017112,GARD:0022524,GARD:0010248,GARD:0015729,Rare neurologic disease +GARD:0017112,GARD:0022513,GARD:0019832,GARD:0015729,Rare developmental defect during embryogenesis +GARD:0017112,GARD:0022531,GARD:0010248,GARD:0015729,Rare genetic disease +GARD:0017112,GARD:0022531,GARD:0021007,GARD:0015729,Rare genetic disease +GARD:0017113,GARD:0022524,GARD:0020457,,Rare neurologic disease +GARD:0017113,GARD:0022531,GARD:0020457,,Rare genetic disease +GARD:0017114,GARD:0022508,GARD:0006564,,Rare inborn errors of metabolism +GARD:0017114,GARD:0022531,GARD:0006564,,Rare genetic disease +GARD:0017114,GARD:0022520,GARD:0006564,,Rare ophthalmic disorder +GARD:0017114,GARD:0022524,GARD:0006564,,Rare neurologic disease +GARD:0017115,GARD:0022508,GARD:0006564,,Rare inborn errors of metabolism +GARD:0017115,GARD:0022520,GARD:0006564,,Rare ophthalmic disorder +GARD:0017115,GARD:0022524,GARD:0006564,,Rare neurologic disease +GARD:0017115,GARD:0022531,GARD:0006564,,Rare genetic disease +GARD:0017116,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0017116,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0017116,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0017116,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0017116,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0017116,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0017116,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0017117,GARD:0022531,GARD:0019000,,Rare genetic disease +GARD:0017117,GARD:0022513,GARD:0021183,,Rare developmental defect during embryogenesis +GARD:0017117,GARD:0022510,GARD:0019000,,Rare skin disease +GARD:0017117,GARD:0022531,GARD:0021183,,Rare genetic disease +GARD:0017117,GARD:0022511,GARD:0021183,,Rare bone disease +GARD:0017118,GARD:0022508,GARD:0006675,,Rare inborn errors of metabolism +GARD:0017118,GARD:0022510,GARD:0006675,,Rare skin disease +GARD:0017118,GARD:0022513,GARD:0006675,,Rare developmental defect during embryogenesis +GARD:0017118,GARD:0022536,GARD:0006675,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017118,GARD:0022520,GARD:0006675,,Rare ophthalmic disorder +GARD:0017118,GARD:0022524,GARD:0006675,,Rare neurologic disease +GARD:0017118,GARD:0022511,GARD:0006675,,Rare bone disease +GARD:0017118,GARD:0022515,GARD:0006675,,Rare cardiac disease +GARD:0017118,GARD:0022531,GARD:0006675,,Rare genetic disease +GARD:0017119,GARD:0022515,GARD:0006675,,Rare cardiac disease +GARD:0017119,GARD:0022524,GARD:0006675,,Rare neurologic disease +GARD:0017119,GARD:0022511,GARD:0006675,,Rare bone disease +GARD:0017119,GARD:0022510,GARD:0006675,,Rare skin disease +GARD:0017119,GARD:0022513,GARD:0006675,,Rare developmental defect during embryogenesis +GARD:0017119,GARD:0022520,GARD:0006675,,Rare ophthalmic disorder +GARD:0017119,GARD:0022531,GARD:0006675,,Rare genetic disease +GARD:0017119,GARD:0022508,GARD:0006675,,Rare inborn errors of metabolism +GARD:0017119,GARD:0022536,GARD:0006675,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017120,GARD:0022518,GARD:0006227,,Rare surgical thoracic disease +GARD:0017120,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017120,GARD:0022510,GARD:0006227,,Rare skin disease +GARD:0017120,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017120,GARD:0022513,GARD:0006227,,Rare developmental defect during embryogenesis +GARD:0017120,GARD:0022534,GARD:0006227,,Rare abdominal surgical disease +GARD:0017120,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017120,GARD:0022531,GARD:0006227,,Rare genetic disease +GARD:0017121,GARD:0022531,GARD:0020887,,Rare genetic disease +GARD:0017121,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017121,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017121,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017121,GARD:0022513,GARD:0020887,,Rare developmental defect during embryogenesis +GARD:0017122,GARD:0022513,GARD:0020870,,Rare developmental defect during embryogenesis +GARD:0017122,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017122,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017122,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017122,GARD:0022531,GARD:0020870,,Rare genetic disease +GARD:0017123,GARD:0022508,GARD:0021231,,Rare inborn errors of metabolism +GARD:0017123,GARD:0022531,GARD:0021231,,Rare genetic disease +GARD:0017123,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017123,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017124,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0017124,GARD:0022531,GARD:0021987,,Rare genetic disease +GARD:0017125,GARD:0022511,GARD:0020515,,Rare bone disease +GARD:0017125,GARD:0022531,GARD:0020515,,Rare genetic disease +GARD:0017125,GARD:0022522,GARD:0020515,,Rare hematologic disease +GARD:0017125,GARD:0022525,GARD:0020515,,Rare systemic or rheumatologic disease +GARD:0017126,GARD:0022517,GARD:0019746,,Rare respiratory disease +GARD:0017126,GARD:0022536,GARD:0019746,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017126,GARD:0022531,GARD:0019746,,Rare genetic disease +GARD:0017127,GARD:0022517,GARD:0020936,,Rare respiratory disease +GARD:0017127,GARD:0022536,GARD:0020936,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017127,GARD:0022531,GARD:0020944,,Rare genetic disease +GARD:0017128,GARD:0022531,GARD:0020529,,Rare genetic disease +GARD:0017128,GARD:0022515,GARD:0020529,,Rare cardiac disease +GARD:0017128,GARD:0022536,GARD:0020529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017129,GARD:0022531,GARD:0021240,GARD:0017345,Rare genetic disease +GARD:0017129,GARD:0022531,GARD:0005847,GARD:0017346,Rare genetic disease +GARD:0017129,GARD:0022531,GARD:0021240,GARD:0017346,Rare genetic disease +GARD:0017129,GARD:0022515,GARD:0005847,GARD:0017345,Rare cardiac disease +GARD:0017129,GARD:0022515,GARD:0005847,GARD:0017346,Rare cardiac disease +GARD:0017129,GARD:0022531,GARD:0005847,GARD:0017347,Rare genetic disease +GARD:0017129,GARD:0022531,GARD:0021240,GARD:0017347,Rare genetic disease +GARD:0017129,GARD:0022536,GARD:0005847,GARD:0017345,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017129,GARD:0022515,GARD:0005847,GARD:0017347,Rare cardiac disease +GARD:0017129,GARD:0022536,GARD:0005847,GARD:0017346,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017129,GARD:0022536,GARD:0005847,GARD:0017347,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017129,GARD:0022531,GARD:0005847,GARD:0017345,Rare genetic disease +GARD:0017130,GARD:0022510,GARD:0019018,GARD:0005628,Rare skin disease +GARD:0017130,GARD:0022513,GARD:0022081,GARD:0005628,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022510,GARD:0019018,GARD:0005629,Rare skin disease +GARD:0017130,GARD:0022510,GARD:0019017,GARD:0016452,Rare skin disease +GARD:0017130,GARD:0022531,GARD:0019503,GARD:0016452,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0022162,GARD:0016452,Rare genetic disease +GARD:0017130,GARD:0022520,GARD:0019538,GARD:0016452,Rare ophthalmic disorder +GARD:0017130,GARD:0022513,GARD:0019503,GARD:0005629,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022531,GARD:0019017,GARD:0005625,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0022162,GARD:0005628,Rare genetic disease +GARD:0017130,GARD:0022513,GARD:0019145,GARD:0005629,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022513,GARD:0019906,GARD:0005629,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022531,GARD:0022440,GARD:0005625,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0022440,GARD:0005629,Rare genetic disease +GARD:0017130,GARD:0022520,GARD:0022081,GARD:0005629,Rare ophthalmic disorder +GARD:0017130,GARD:0022524,GARD:0022440,GARD:0005628,Rare neurologic disease +GARD:0017130,GARD:0022528,GARD:0019145,GARD:0005625,Rare otorhinolaryngologic disease +GARD:0017130,GARD:0022531,GARD:0020277,GARD:0005629,Rare genetic disease +GARD:0017130,GARD:0022510,GARD:0019017,GARD:0005625,Rare skin disease +GARD:0017130,GARD:0022524,GARD:0019414,GARD:0005628,Rare neurologic disease +GARD:0017130,GARD:0022520,GARD:0019538,GARD:0005629,Rare ophthalmic disorder +GARD:0017130,GARD:0022531,GARD:0019414,GARD:0005628,Rare genetic disease +GARD:0017130,GARD:0022524,GARD:0019414,GARD:0005625,Rare neurologic disease +GARD:0017130,GARD:0022513,GARD:0019904,GARD:0005625,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022531,GARD:0019017,GARD:0005629,Rare genetic disease +GARD:0017130,GARD:0022520,GARD:0019503,GARD:0005628,Rare ophthalmic disorder +GARD:0017130,GARD:0022531,GARD:0019904,GARD:0005625,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0019538,GARD:0016452,Rare genetic disease +GARD:0017130,GARD:0022513,GARD:0022081,GARD:0005625,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022520,GARD:0022081,GARD:0005628,Rare ophthalmic disorder +GARD:0017130,GARD:0022528,GARD:0019145,GARD:0005629,Rare otorhinolaryngologic disease +GARD:0017130,GARD:0022520,GARD:0022081,GARD:0016452,Rare ophthalmic disorder +GARD:0017130,GARD:0022520,GARD:0019538,GARD:0005625,Rare ophthalmic disorder +GARD:0017130,GARD:0022531,GARD:0019538,GARD:0005628,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0019904,GARD:0016452,Rare genetic disease +GARD:0017130,GARD:0022524,GARD:0022440,GARD:0016452,Rare neurologic disease +GARD:0017130,GARD:0022531,GARD:0021543,GARD:0005628,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0019017,GARD:0005628,Rare genetic disease +GARD:0017130,GARD:0022513,GARD:0019503,GARD:0005628,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022520,GARD:0019538,GARD:0005628,Rare ophthalmic disorder +GARD:0017130,GARD:0022520,GARD:0019503,GARD:0005625,Rare ophthalmic disorder +GARD:0017130,GARD:0022531,GARD:0019145,GARD:0005629,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0019145,GARD:0016452,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0019145,GARD:0005628,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0020277,GARD:0005625,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0019904,GARD:0005628,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0020259,GARD:0005628,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0022440,GARD:0016452,Rare genetic disease +GARD:0017130,GARD:0022520,GARD:0019503,GARD:0005629,Rare ophthalmic disorder +GARD:0017130,GARD:0022524,GARD:0022440,GARD:0005629,Rare neurologic disease +GARD:0017130,GARD:0022520,GARD:0022081,GARD:0005625,Rare ophthalmic disorder +GARD:0017130,GARD:0022528,GARD:0019145,GARD:0016452,Rare otorhinolaryngologic disease +GARD:0017130,GARD:0022531,GARD:0022440,GARD:0005628,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0019503,GARD:0005625,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0019145,GARD:0005625,Rare genetic disease +GARD:0017130,GARD:0022510,GARD:0019017,GARD:0005628,Rare skin disease +GARD:0017130,GARD:0022513,GARD:0022081,GARD:0005629,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022531,GARD:0019017,GARD:0016452,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0020259,GARD:0016452,Rare genetic disease +GARD:0017130,GARD:0022520,GARD:0019503,GARD:0016452,Rare ophthalmic disorder +GARD:0017130,GARD:0022510,GARD:0019018,GARD:0005625,Rare skin disease +GARD:0017130,GARD:0022535,GARD:0020259,GARD:0005625,Rare neoplastic disease +GARD:0017130,GARD:0022513,GARD:0019503,GARD:0016452,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022531,GARD:0019503,GARD:0005628,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0021543,GARD:0005629,Rare genetic disease +GARD:0017130,GARD:0022513,GARD:0019904,GARD:0005628,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022531,GARD:0019414,GARD:0005629,Rare genetic disease +GARD:0017130,GARD:0022513,GARD:0019904,GARD:0016452,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022528,GARD:0019145,GARD:0005628,Rare otorhinolaryngologic disease +GARD:0017130,GARD:0022513,GARD:0022081,GARD:0016452,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022531,GARD:0019538,GARD:0005625,Rare genetic disease +GARD:0017130,GARD:0022510,GARD:0019017,GARD:0005629,Rare skin disease +GARD:0017130,GARD:0022524,GARD:0019414,GARD:0005629,Rare neurologic disease +GARD:0017130,GARD:0022524,GARD:0022440,GARD:0005625,Rare neurologic disease +GARD:0017130,GARD:0022531,GARD:0022162,GARD:0005625,Rare genetic disease +GARD:0017130,GARD:0022535,GARD:0020259,GARD:0005628,Rare neoplastic disease +GARD:0017130,GARD:0022513,GARD:0019904,GARD:0005629,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022513,GARD:0019145,GARD:0005625,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022513,GARD:0019906,GARD:0005628,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022513,GARD:0019906,GARD:0016452,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022531,GARD:0021543,GARD:0005625,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0019503,GARD:0005629,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0020259,GARD:0005625,Rare genetic disease +GARD:0017130,GARD:0022513,GARD:0019503,GARD:0005625,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022513,GARD:0019145,GARD:0016452,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022531,GARD:0020259,GARD:0005629,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0021543,GARD:0016452,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0020277,GARD:0016452,Rare genetic disease +GARD:0017130,GARD:0022524,GARD:0019414,GARD:0016452,Rare neurologic disease +GARD:0017130,GARD:0022531,GARD:0019414,GARD:0016452,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0019414,GARD:0005625,Rare genetic disease +GARD:0017130,GARD:0022513,GARD:0019145,GARD:0005628,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022531,GARD:0019904,GARD:0005629,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0022162,GARD:0005629,Rare genetic disease +GARD:0017130,GARD:0022535,GARD:0020259,GARD:0016452,Rare neoplastic disease +GARD:0017130,GARD:0022531,GARD:0019538,GARD:0005629,Rare genetic disease +GARD:0017130,GARD:0022531,GARD:0020277,GARD:0005628,Rare genetic disease +GARD:0017130,GARD:0022535,GARD:0020259,GARD:0005629,Rare neoplastic disease +GARD:0017130,GARD:0022513,GARD:0019906,GARD:0005625,Rare developmental defect during embryogenesis +GARD:0017130,GARD:0022510,GARD:0019018,GARD:0016452,Rare skin disease +GARD:0017131,GARD:0022524,GARD:0006665,,Rare neurologic disease +GARD:0017131,GARD:0022531,GARD:0006665,,Rare genetic disease +GARD:0017131,GARD:0022513,GARD:0006665,,Rare developmental defect during embryogenesis +GARD:0017131,GARD:0022521,GARD:0006665,,Rare endocrine disease +GARD:0017132,GARD:0022522,GARD:0021968,,Rare hematologic disease +GARD:0017132,GARD:0022531,GARD:0021968,,Rare genetic disease +GARD:0017133,GARD:0022531,GARD:0003924,GARD:0018311,Rare genetic disease +GARD:0017133,GARD:0022531,GARD:0003924,GARD:0018312,Rare genetic disease +GARD:0017133,GARD:0022516,GARD:0022148,GARD:0018312,Rare gastroenterologic disease +GARD:0017133,GARD:0022516,GARD:0022148,GARD:0018311,Rare gastroenterologic disease +GARD:0017133,GARD:0022536,GARD:0022148,GARD:0018312,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017133,GARD:0022531,GARD:0021510,GARD:0018312,Rare genetic disease +GARD:0017133,GARD:0022521,GARD:0003924,GARD:0018311,Rare endocrine disease +GARD:0017133,GARD:0022536,GARD:0022148,GARD:0018311,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017133,GARD:0022531,GARD:0022148,GARD:0018311,Rare genetic disease +GARD:0017133,GARD:0022523,GARD:0021510,GARD:0018312,Rare immune disease +GARD:0017133,GARD:0022521,GARD:0003924,GARD:0018312,Rare endocrine disease +GARD:0017133,GARD:0022531,GARD:0022148,GARD:0018312,Rare genetic disease +GARD:0017133,GARD:0022523,GARD:0021510,GARD:0018311,Rare immune disease +GARD:0017133,GARD:0022531,GARD:0021510,GARD:0018311,Rare genetic disease +GARD:0017134,GARD:0022531,GARD:0004392,,Rare genetic disease +GARD:0017134,GARD:0022513,GARD:0004392,,Rare developmental defect during embryogenesis +GARD:0017134,GARD:0022520,GARD:0004392,,Rare ophthalmic disorder +GARD:0017134,GARD:0022510,GARD:0004392,,Rare skin disease +GARD:0017135,GARD:0022531,GARD:0004392,,Rare genetic disease +GARD:0017135,GARD:0022510,GARD:0004392,,Rare skin disease +GARD:0017135,GARD:0022513,GARD:0004392,,Rare developmental defect during embryogenesis +GARD:0017135,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0017135,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0017135,GARD:0022520,GARD:0004392,,Rare ophthalmic disorder +GARD:0017136,GARD:0022510,GARD:0020545,,Rare skin disease +GARD:0017136,GARD:0022531,GARD:0020545,,Rare genetic disease +GARD:0017137,GARD:0022524,GARD:0020543,,Rare neurologic disease +GARD:0017138,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0017138,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0017138,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0017139,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0017139,GARD:0022531,GARD:0020115,,Rare genetic disease +GARD:0017139,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0017139,GARD:0022536,GARD:0022063,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017139,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017139,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0017139,GARD:0022523,GARD:0020115,,Rare immune disease +GARD:0017139,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017139,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017140,GARD:0022531,GARD:0006227,,Rare genetic disease +GARD:0017140,GARD:0022518,GARD:0006227,,Rare surgical thoracic disease +GARD:0017140,GARD:0022534,GARD:0006227,,Rare abdominal surgical disease +GARD:0017140,GARD:0022510,GARD:0006227,,Rare skin disease +GARD:0017140,GARD:0022513,GARD:0006227,,Rare developmental defect during embryogenesis +GARD:0017141,GARD:0022531,GARD:0005040,GARD:0018315,Rare genetic disease +GARD:0017141,GARD:0022524,GARD:0005040,GARD:0018315,Rare neurologic disease +GARD:0017142,GARD:0022531,GARD:0020324,,Rare genetic disease +GARD:0017142,GARD:0022514,GARD:0012772,,Rare gynecologic or obstetric disease +GARD:0017142,GARD:0022535,GARD:0012772,,Rare neoplastic disease +GARD:0017143,GARD:0022531,GARD:0020760,,Rare genetic disease +GARD:0017143,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0017143,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0017143,GARD:0022508,GARD:0020760,,Rare inborn errors of metabolism +GARD:0017144,GARD:0022531,GARD:0021405,,Rare genetic disease +GARD:0017144,GARD:0022536,GARD:0021405,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017144,GARD:0022523,GARD:0021405,,Rare immune disease +GARD:0017145,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017145,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0017145,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017145,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0017145,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017145,GARD:0022536,GARD:0020523,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017145,GARD:0022531,GARD:0020523,,Rare genetic disease +GARD:0017145,GARD:0022515,GARD:0020523,,Rare cardiac disease +GARD:0017146,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0017146,GARD:0022531,GARD:0021284,,Rare genetic disease +GARD:0017147,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0017147,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0017148,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0017148,GARD:0022513,GARD:0020573,,Rare developmental defect during embryogenesis +GARD:0017148,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0017148,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0017148,GARD:0022511,GARD:0020573,,Rare bone disease +GARD:0017148,GARD:0022531,GARD:0020573,,Rare genetic disease +GARD:0017149,GARD:0022508,GARD:0001121,,Rare inborn errors of metabolism +GARD:0017149,GARD:0022524,GARD:0001121,,Rare neurologic disease +GARD:0017149,GARD:0022531,GARD:0001121,,Rare genetic disease +GARD:0017150,GARD:0022508,GARD:0001121,,Rare inborn errors of metabolism +GARD:0017150,GARD:0022531,GARD:0001121,,Rare genetic disease +GARD:0017150,GARD:0022524,GARD:0001121,,Rare neurologic disease +GARD:0017151,GARD:0022508,GARD:0001121,,Rare inborn errors of metabolism +GARD:0017151,GARD:0022531,GARD:0001121,,Rare genetic disease +GARD:0017151,GARD:0022524,GARD:0001121,,Rare neurologic disease +GARD:0017152,GARD:0022531,GARD:0017032,,Rare genetic disease +GARD:0017152,GARD:0022520,GARD:0004938,,Rare ophthalmic disorder +GARD:0017152,GARD:0022531,GARD:0004938,,Rare genetic disease +GARD:0017152,GARD:0022508,GARD:0004938,,Rare inborn errors of metabolism +GARD:0017152,GARD:0022524,GARD:0017032,,Rare neurologic disease +GARD:0017152,GARD:0022520,GARD:0017032,,Rare ophthalmic disorder +GARD:0017152,GARD:0022508,GARD:0017032,,Rare inborn errors of metabolism +GARD:0017152,GARD:0022524,GARD:0004938,,Rare neurologic disease +GARD:0017153,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0017153,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0017154,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0017154,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0017154,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0017155,GARD:0022523,GARD:0020320,GARD:0009640,Rare immune disease +GARD:0017155,GARD:0022523,GARD:0020320,GARD:0001033,Rare immune disease +GARD:0017155,GARD:0022531,GARD:0020320,GARD:0001033,Rare genetic disease +GARD:0017155,GARD:0022531,GARD:0020320,GARD:0009640,Rare genetic disease +GARD:0017156,GARD:0022525,GARD:0020255,GARD:0018316,Rare systemic or rheumatologic disease +GARD:0017156,GARD:0022531,GARD:0019904,GARD:0018317,Rare genetic disease +GARD:0017156,GARD:0022531,GARD:0020574,GARD:0018316,Rare genetic disease +GARD:0017156,GARD:0022531,GARD:0019905,GARD:0018317,Rare genetic disease +GARD:0017156,GARD:0022510,GARD:0020574,GARD:0018317,Rare skin disease +GARD:0017156,GARD:0022531,GARD:0019904,GARD:0018316,Rare genetic disease +GARD:0017156,GARD:0022531,GARD:0019201,GARD:0018316,Rare genetic disease +GARD:0017156,GARD:0022525,GARD:0020255,GARD:0018317,Rare systemic or rheumatologic disease +GARD:0017156,GARD:0022513,GARD:0019905,GARD:0018317,Rare developmental defect during embryogenesis +GARD:0017156,GARD:0022513,GARD:0019905,GARD:0018316,Rare developmental defect during embryogenesis +GARD:0017156,GARD:0022513,GARD:0019904,GARD:0018317,Rare developmental defect during embryogenesis +GARD:0017156,GARD:0022531,GARD:0022459,GARD:0018316,Rare genetic disease +GARD:0017156,GARD:0022510,GARD:0020574,GARD:0018316,Rare skin disease +GARD:0017156,GARD:0022531,GARD:0022459,GARD:0018317,Rare genetic disease +GARD:0017156,GARD:0022513,GARD:0019201,GARD:0018316,Rare developmental defect during embryogenesis +GARD:0017156,GARD:0022511,GARD:0019201,GARD:0018316,Rare bone disease +GARD:0017156,GARD:0022513,GARD:0019201,GARD:0018317,Rare developmental defect during embryogenesis +GARD:0017156,GARD:0022531,GARD:0019905,GARD:0018316,Rare genetic disease +GARD:0017156,GARD:0022513,GARD:0019904,GARD:0018316,Rare developmental defect during embryogenesis +GARD:0017156,GARD:0022511,GARD:0019201,GARD:0018317,Rare bone disease +GARD:0017156,GARD:0022531,GARD:0019201,GARD:0018317,Rare genetic disease +GARD:0017156,GARD:0022531,GARD:0020574,GARD:0018317,Rare genetic disease +GARD:0017157,GARD:0022510,GARD:0019013,,Rare skin disease +GARD:0017157,GARD:0022531,GARD:0019013,,Rare genetic disease +GARD:0017158,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0017158,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0017159,GARD:0022535,GARD:0007572,GARD:0018318,Rare neoplastic disease +GARD:0017159,GARD:0022531,GARD:0021011,GARD:0018318,Rare genetic disease +GARD:0017159,GARD:0022531,GARD:0021011,GARD:0018319,Rare genetic disease +GARD:0017159,GARD:0022535,GARD:0007572,GARD:0018319,Rare neoplastic disease +GARD:0017160,GARD:0022515,GARD:0003343,,Rare cardiac disease +GARD:0017160,GARD:0022513,GARD:0003343,,Rare developmental defect during embryogenesis +GARD:0017160,GARD:0022531,GARD:0003343,,Rare genetic disease +GARD:0017160,GARD:0022536,GARD:0003343,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017160,GARD:0022528,GARD:0003343,,Rare otorhinolaryngologic disease +GARD:0017160,GARD:0022512,GARD:0003343,,Rare renal disease +GARD:0017160,GARD:0022535,GARD:0003343,,Rare neoplastic disease +GARD:0017160,GARD:0022507,GARD:0003343,,Rare maxillo-facial surgical disease +GARD:0017161,GARD:0022524,GARD:0019819,GARD:0018326,Rare neurologic disease +GARD:0017161,GARD:0022531,GARD:0021614,GARD:0018324,Rare genetic disease +GARD:0017161,GARD:0022524,GARD:0019819,GARD:0018330,Rare neurologic disease +GARD:0017161,GARD:0022524,GARD:0019819,GARD:0018329,Rare neurologic disease +GARD:0017161,GARD:0022531,GARD:0021614,GARD:0018322,Rare genetic disease +GARD:0017161,GARD:0022531,GARD:0021614,GARD:0018328,Rare genetic disease +GARD:0017161,GARD:0022524,GARD:0019819,GARD:0018324,Rare neurologic disease +GARD:0017161,GARD:0022524,GARD:0019819,GARD:0018323,Rare neurologic disease +GARD:0017161,GARD:0022531,GARD:0021614,GARD:0018327,Rare genetic disease +GARD:0017161,GARD:0022531,GARD:0021614,GARD:0018329,Rare genetic disease +GARD:0017161,GARD:0022524,GARD:0019819,GARD:0018328,Rare neurologic disease +GARD:0017161,GARD:0022531,GARD:0021614,GARD:0018325,Rare genetic disease +GARD:0017161,GARD:0022524,GARD:0019819,GARD:0018321,Rare neurologic disease +GARD:0017161,GARD:0022531,GARD:0021614,GARD:0018323,Rare genetic disease +GARD:0017161,GARD:0022524,GARD:0019819,GARD:0018325,Rare neurologic disease +GARD:0017161,GARD:0022531,GARD:0021614,GARD:0018330,Rare genetic disease +GARD:0017161,GARD:0022531,GARD:0021614,GARD:0018321,Rare genetic disease +GARD:0017161,GARD:0022531,GARD:0021614,GARD:0010033,Rare genetic disease +GARD:0017161,GARD:0022524,GARD:0019819,GARD:0010033,Rare neurologic disease +GARD:0017161,GARD:0022531,GARD:0021614,GARD:0018320,Rare genetic disease +GARD:0017161,GARD:0022524,GARD:0019819,GARD:0018320,Rare neurologic disease +GARD:0017161,GARD:0022531,GARD:0021614,GARD:0018326,Rare genetic disease +GARD:0017161,GARD:0022524,GARD:0019819,GARD:0018327,Rare neurologic disease +GARD:0017161,GARD:0022524,GARD:0019819,GARD:0018322,Rare neurologic disease +GARD:0017162,GARD:0022536,GARD:0000871,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017162,GARD:0022522,GARD:0000871,,Rare hematologic disease +GARD:0017162,GARD:0022521,GARD:0000871,,Rare endocrine disease +GARD:0017162,GARD:0022531,GARD:0000871,,Rare genetic disease +GARD:0017162,GARD:0022512,GARD:0000871,,Rare renal disease +GARD:0017163,GARD:0022512,GARD:0000871,,Rare renal disease +GARD:0017163,GARD:0022531,GARD:0000871,,Rare genetic disease +GARD:0017163,GARD:0022536,GARD:0000871,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017163,GARD:0022522,GARD:0000871,,Rare hematologic disease +GARD:0017163,GARD:0022521,GARD:0000871,,Rare endocrine disease +GARD:0017164,GARD:0022536,GARD:0000871,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017164,GARD:0022512,GARD:0000871,,Rare renal disease +GARD:0017164,GARD:0022522,GARD:0000871,,Rare hematologic disease +GARD:0017164,GARD:0022521,GARD:0000871,,Rare endocrine disease +GARD:0017164,GARD:0022531,GARD:0000871,,Rare genetic disease +GARD:0017165,GARD:0022536,GARD:0020607,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017165,GARD:0022522,GARD:0020607,,Rare hematologic disease +GARD:0017165,GARD:0022531,GARD:0020607,,Rare genetic disease +GARD:0017166,GARD:0022522,GARD:0020610,,Rare hematologic disease +GARD:0017166,GARD:0022531,GARD:0020610,,Rare genetic disease +GARD:0017166,GARD:0022536,GARD:0020610,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017167,GARD:0022536,GARD:0020627,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017167,GARD:0022531,GARD:0020627,,Rare genetic disease +GARD:0017167,GARD:0022522,GARD:0020627,,Rare hematologic disease +GARD:0017168,GARD:0022510,GARD:0006643,GARD:0018332,Rare skin disease +GARD:0017168,GARD:0022520,GARD:0006643,GARD:0018332,Rare ophthalmic disorder +GARD:0017168,GARD:0022510,GARD:0006643,GARD:0018331,Rare skin disease +GARD:0017168,GARD:0022508,GARD:0006643,GARD:0018331,Rare inborn errors of metabolism +GARD:0017168,GARD:0022536,GARD:0020930,GARD:0018331,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017168,GARD:0022522,GARD:0006643,GARD:0018331,Rare hematologic disease +GARD:0017168,GARD:0022536,GARD:0020930,GARD:0018332,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017168,GARD:0022531,GARD:0006643,GARD:0018331,Rare genetic disease +GARD:0017168,GARD:0022517,GARD:0020930,GARD:0018332,Rare respiratory disease +GARD:0017168,GARD:0022508,GARD:0006643,GARD:0018332,Rare inborn errors of metabolism +GARD:0017168,GARD:0022517,GARD:0020930,GARD:0018331,Rare respiratory disease +GARD:0017168,GARD:0022531,GARD:0006643,GARD:0018332,Rare genetic disease +GARD:0017168,GARD:0022520,GARD:0006643,GARD:0018331,Rare ophthalmic disorder +GARD:0017168,GARD:0022522,GARD:0006643,GARD:0018332,Rare hematologic disease +GARD:0017169,GARD:0022508,GARD:0006643,GARD:0018333,Rare inborn errors of metabolism +GARD:0017169,GARD:0022531,GARD:0006643,GARD:0018334,Rare genetic disease +GARD:0017169,GARD:0022520,GARD:0006643,GARD:0018335,Rare ophthalmic disorder +GARD:0017169,GARD:0022510,GARD:0006643,GARD:0018333,Rare skin disease +GARD:0017169,GARD:0022522,GARD:0006643,GARD:0018333,Rare hematologic disease +GARD:0017169,GARD:0022522,GARD:0006643,GARD:0018334,Rare hematologic disease +GARD:0017169,GARD:0022510,GARD:0006643,GARD:0018335,Rare skin disease +GARD:0017169,GARD:0022522,GARD:0006643,GARD:0018335,Rare hematologic disease +GARD:0017169,GARD:0022510,GARD:0006643,GARD:0018334,Rare skin disease +GARD:0017169,GARD:0022508,GARD:0006643,GARD:0018334,Rare inborn errors of metabolism +GARD:0017169,GARD:0022531,GARD:0006643,GARD:0018333,Rare genetic disease +GARD:0017169,GARD:0022520,GARD:0006643,GARD:0018333,Rare ophthalmic disorder +GARD:0017169,GARD:0022508,GARD:0006643,GARD:0018335,Rare inborn errors of metabolism +GARD:0017169,GARD:0022531,GARD:0006643,GARD:0018335,Rare genetic disease +GARD:0017169,GARD:0022520,GARD:0006643,GARD:0018334,Rare ophthalmic disorder +GARD:0017170,GARD:0022508,GARD:0006643,GARD:0018339,Rare inborn errors of metabolism +GARD:0017170,GARD:0022510,GARD:0006643,GARD:0018339,Rare skin disease +GARD:0017170,GARD:0022520,GARD:0006643,GARD:0018336,Rare ophthalmic disorder +GARD:0017170,GARD:0022510,GARD:0006643,GARD:0018336,Rare skin disease +GARD:0017170,GARD:0022520,GARD:0006643,GARD:0018339,Rare ophthalmic disorder +GARD:0017170,GARD:0022522,GARD:0006643,GARD:0018339,Rare hematologic disease +GARD:0017170,GARD:0022531,GARD:0006643,GARD:0018337,Rare genetic disease +GARD:0017170,GARD:0022510,GARD:0006643,GARD:0018338,Rare skin disease +GARD:0017170,GARD:0022508,GARD:0006643,GARD:0018338,Rare inborn errors of metabolism +GARD:0017170,GARD:0022510,GARD:0006643,GARD:0018337,Rare skin disease +GARD:0017170,GARD:0022531,GARD:0006643,GARD:0018336,Rare genetic disease +GARD:0017170,GARD:0022520,GARD:0006643,GARD:0018337,Rare ophthalmic disorder +GARD:0017170,GARD:0022522,GARD:0006643,GARD:0018338,Rare hematologic disease +GARD:0017170,GARD:0022531,GARD:0006643,GARD:0018338,Rare genetic disease +GARD:0017170,GARD:0022508,GARD:0006643,GARD:0018336,Rare inborn errors of metabolism +GARD:0017170,GARD:0022531,GARD:0006643,GARD:0018339,Rare genetic disease +GARD:0017170,GARD:0022522,GARD:0006643,GARD:0018336,Rare hematologic disease +GARD:0017170,GARD:0022508,GARD:0006643,GARD:0018337,Rare inborn errors of metabolism +GARD:0017170,GARD:0022522,GARD:0006643,GARD:0018337,Rare hematologic disease +GARD:0017170,GARD:0022520,GARD:0006643,GARD:0018338,Rare ophthalmic disorder +GARD:0017171,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017171,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017171,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017171,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017171,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017171,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017172,GARD:0022531,GARD:0020885,,Rare genetic disease +GARD:0017172,GARD:0022513,GARD:0020885,,Rare developmental defect during embryogenesis +GARD:0017173,GARD:0022536,GARD:0020048,GARD:0018341,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017173,GARD:0022536,GARD:0020048,GARD:0018340,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017173,GARD:0022531,GARD:0020048,GARD:0018341,Rare genetic disease +GARD:0017173,GARD:0022506,GARD:0020048,GARD:0018341,Rare hepatic disease +GARD:0017173,GARD:0022508,GARD:0020048,GARD:0018341,Rare inborn errors of metabolism +GARD:0017173,GARD:0022508,GARD:0020048,GARD:0018340,Rare inborn errors of metabolism +GARD:0017173,GARD:0022506,GARD:0020048,GARD:0018340,Rare hepatic disease +GARD:0017173,GARD:0022531,GARD:0020048,GARD:0018340,Rare genetic disease +GARD:0017174,GARD:0022531,GARD:0020633,,Rare genetic disease +GARD:0017174,GARD:0022523,GARD:0020633,,Rare immune disease +GARD:0017174,GARD:0022536,GARD:0020633,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017174,GARD:0022535,GARD:0020633,,Rare neoplastic disease +GARD:0017175,GARD:0022536,GARD:0020634,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017175,GARD:0022508,GARD:0020634,,Rare inborn errors of metabolism +GARD:0017175,GARD:0022513,GARD:0020634,,Rare developmental defect during embryogenesis +GARD:0017175,GARD:0022512,GARD:0020634,,Rare renal disease +GARD:0017175,GARD:0022531,GARD:0020634,,Rare genetic disease +GARD:0017176,GARD:0022531,GARD:0020635,,Rare genetic disease +GARD:0017176,GARD:0022522,GARD:0020635,,Rare hematologic disease +GARD:0017177,GARD:0022513,GARD:0020887,,Rare developmental defect during embryogenesis +GARD:0017177,GARD:0022531,GARD:0017093,,Rare genetic disease +GARD:0017177,GARD:0022511,GARD:0017093,,Rare bone disease +GARD:0017177,GARD:0022513,GARD:0017093,,Rare developmental defect during embryogenesis +GARD:0017177,GARD:0022531,GARD:0020887,,Rare genetic disease +GARD:0017178,GARD:0022513,GARD:0003343,,Rare developmental defect during embryogenesis +GARD:0017178,GARD:0022528,GARD:0003343,,Rare otorhinolaryngologic disease +GARD:0017178,GARD:0022531,GARD:0003343,,Rare genetic disease +GARD:0017178,GARD:0022515,GARD:0003343,,Rare cardiac disease +GARD:0017178,GARD:0022507,GARD:0003343,,Rare maxillo-facial surgical disease +GARD:0017178,GARD:0022535,GARD:0003343,,Rare neoplastic disease +GARD:0017178,GARD:0022512,GARD:0003343,,Rare renal disease +GARD:0017178,GARD:0022536,GARD:0003343,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017179,GARD:0022521,GARD:0012280,,Rare endocrine disease +GARD:0017179,GARD:0022531,GARD:0012280,,Rare genetic disease +GARD:0017180,GARD:0022531,GARD:0020323,,Rare genetic disease +GARD:0017180,GARD:0022514,GARD:0020193,,Rare gynecologic or obstetric disease +GARD:0017180,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0017180,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0017180,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0017181,GARD:0022531,GARD:0020824,,Rare genetic disease +GARD:0017181,GARD:0022513,GARD:0020824,,Rare developmental defect during embryogenesis +GARD:0017182,GARD:0022531,GARD:0007471,GARD:0018344,Rare genetic disease +GARD:0017182,GARD:0022520,GARD:0007471,GARD:0018345,Rare ophthalmic disorder +GARD:0017182,GARD:0022524,GARD:0007471,GARD:0018344,Rare neurologic disease +GARD:0017182,GARD:0022520,GARD:0007471,GARD:0018344,Rare ophthalmic disorder +GARD:0017182,GARD:0022531,GARD:0007471,GARD:0018345,Rare genetic disease +GARD:0017182,GARD:0022524,GARD:0007471,GARD:0018345,Rare neurologic disease +GARD:0017183,GARD:0022520,GARD:0004507,,Rare ophthalmic disorder +GARD:0017183,GARD:0022524,GARD:0004507,,Rare neurologic disease +GARD:0017183,GARD:0022531,GARD:0004507,,Rare genetic disease +GARD:0017183,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0017184,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0017184,GARD:0022536,GARD:0020114,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017184,GARD:0022531,GARD:0020114,,Rare genetic disease +GARD:0017184,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0017184,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0017184,GARD:0022523,GARD:0020114,,Rare immune disease +GARD:0017184,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0017185,GARD:0022531,GARD:0018968,,Rare genetic disease +GARD:0017185,GARD:0022508,GARD:0018968,,Rare inborn errors of metabolism +GARD:0017186,GARD:0022512,GARD:0019230,GARD:0018346,Rare renal disease +GARD:0017186,GARD:0022512,GARD:0006735,GARD:0018346,Rare renal disease +GARD:0017186,GARD:0022513,GARD:0006735,GARD:0018347,Rare developmental defect during embryogenesis +GARD:0017186,GARD:0022512,GARD:0006735,GARD:0018347,Rare renal disease +GARD:0017186,GARD:0022521,GARD:0006735,GARD:0018347,Rare endocrine disease +GARD:0017186,GARD:0022531,GARD:0006735,GARD:0018347,Rare genetic disease +GARD:0017186,GARD:0022512,GARD:0019230,GARD:0018347,Rare renal disease +GARD:0017186,GARD:0022513,GARD:0006735,GARD:0018346,Rare developmental defect during embryogenesis +GARD:0017186,GARD:0022531,GARD:0020306,GARD:0018346,Rare genetic disease +GARD:0017186,GARD:0022536,GARD:0022061,GARD:0018346,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017186,GARD:0022531,GARD:0006735,GARD:0018346,Rare genetic disease +GARD:0017186,GARD:0022521,GARD:0006735,GARD:0018346,Rare endocrine disease +GARD:0017186,GARD:0022511,GARD:0006735,GARD:0018347,Rare bone disease +GARD:0017186,GARD:0022536,GARD:0022061,GARD:0018347,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017186,GARD:0022511,GARD:0006735,GARD:0018346,Rare bone disease +GARD:0017186,GARD:0022531,GARD:0020306,GARD:0018347,Rare genetic disease +GARD:0017187,GARD:0022524,GARD:0021001,GARD:0018348,Rare neurologic disease +GARD:0017187,GARD:0022513,GARD:0021001,GARD:0018348,Rare developmental defect during embryogenesis +GARD:0017187,GARD:0022531,GARD:0021007,GARD:0018348,Rare genetic disease +GARD:0017188,GARD:0022508,GARD:0021342,GARD:0018354,Rare inborn errors of metabolism +GARD:0017188,GARD:0022511,GARD:0022023,GARD:0018353,Rare bone disease +GARD:0017188,GARD:0022513,GARD:0021609,GARD:0018353,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022531,GARD:0022441,GARD:0018349,Rare genetic disease +GARD:0017188,GARD:0022531,GARD:0022023,GARD:0018354,Rare genetic disease +GARD:0017188,GARD:0022508,GARD:0021342,GARD:0018352,Rare inborn errors of metabolism +GARD:0017188,GARD:0022508,GARD:0021342,GARD:0018351,Rare inborn errors of metabolism +GARD:0017188,GARD:0022513,GARD:0021609,GARD:0018351,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022508,GARD:0021342,GARD:0018350,Rare inborn errors of metabolism +GARD:0017188,GARD:0022511,GARD:0022023,GARD:0018352,Rare bone disease +GARD:0017188,GARD:0022531,GARD:0021342,GARD:0018349,Rare genetic disease +GARD:0017188,GARD:0022513,GARD:0022023,GARD:0018353,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022531,GARD:0022441,GARD:0018352,Rare genetic disease +GARD:0017188,GARD:0022513,GARD:0019832,GARD:0018353,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022513,GARD:0021609,GARD:0018352,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022524,GARD:0019832,GARD:0018351,Rare neurologic disease +GARD:0017188,GARD:0022524,GARD:0019832,GARD:0018349,Rare neurologic disease +GARD:0017188,GARD:0022531,GARD:0021342,GARD:0018352,Rare genetic disease +GARD:0017188,GARD:0022524,GARD:0019832,GARD:0018353,Rare neurologic disease +GARD:0017188,GARD:0022531,GARD:0021609,GARD:0018349,Rare genetic disease +GARD:0017188,GARD:0022513,GARD:0019832,GARD:0018352,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022531,GARD:0021342,GARD:0018351,Rare genetic disease +GARD:0017188,GARD:0022511,GARD:0022023,GARD:0018349,Rare bone disease +GARD:0017188,GARD:0022531,GARD:0021609,GARD:0018351,Rare genetic disease +GARD:0017188,GARD:0022531,GARD:0022023,GARD:0018353,Rare genetic disease +GARD:0017188,GARD:0022513,GARD:0022023,GARD:0018350,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022531,GARD:0021609,GARD:0018353,Rare genetic disease +GARD:0017188,GARD:0022513,GARD:0021609,GARD:0018354,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022513,GARD:0022023,GARD:0018352,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022513,GARD:0019832,GARD:0018350,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022531,GARD:0022023,GARD:0018352,Rare genetic disease +GARD:0017188,GARD:0022531,GARD:0021609,GARD:0018350,Rare genetic disease +GARD:0017188,GARD:0022531,GARD:0022441,GARD:0018351,Rare genetic disease +GARD:0017188,GARD:0022531,GARD:0021609,GARD:0018352,Rare genetic disease +GARD:0017188,GARD:0022531,GARD:0022441,GARD:0018350,Rare genetic disease +GARD:0017188,GARD:0022513,GARD:0021609,GARD:0018350,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022531,GARD:0021342,GARD:0018354,Rare genetic disease +GARD:0017188,GARD:0022531,GARD:0022023,GARD:0018350,Rare genetic disease +GARD:0017188,GARD:0022531,GARD:0021342,GARD:0018353,Rare genetic disease +GARD:0017188,GARD:0022513,GARD:0022023,GARD:0018351,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022531,GARD:0022441,GARD:0018353,Rare genetic disease +GARD:0017188,GARD:0022531,GARD:0022023,GARD:0018349,Rare genetic disease +GARD:0017188,GARD:0022524,GARD:0019832,GARD:0018354,Rare neurologic disease +GARD:0017188,GARD:0022511,GARD:0022023,GARD:0018350,Rare bone disease +GARD:0017188,GARD:0022511,GARD:0022023,GARD:0018354,Rare bone disease +GARD:0017188,GARD:0022531,GARD:0022023,GARD:0018351,Rare genetic disease +GARD:0017188,GARD:0022513,GARD:0022023,GARD:0018349,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022508,GARD:0021342,GARD:0018349,Rare inborn errors of metabolism +GARD:0017188,GARD:0022513,GARD:0019832,GARD:0018354,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022513,GARD:0019832,GARD:0018351,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022524,GARD:0019832,GARD:0018352,Rare neurologic disease +GARD:0017188,GARD:0022511,GARD:0022023,GARD:0018351,Rare bone disease +GARD:0017188,GARD:0022513,GARD:0021609,GARD:0018349,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022524,GARD:0019832,GARD:0018350,Rare neurologic disease +GARD:0017188,GARD:0022531,GARD:0021609,GARD:0018354,Rare genetic disease +GARD:0017188,GARD:0022531,GARD:0021342,GARD:0018350,Rare genetic disease +GARD:0017188,GARD:0022513,GARD:0019832,GARD:0018349,Rare developmental defect during embryogenesis +GARD:0017188,GARD:0022531,GARD:0022441,GARD:0018354,Rare genetic disease +GARD:0017188,GARD:0022508,GARD:0021342,GARD:0018353,Rare inborn errors of metabolism +GARD:0017188,GARD:0022513,GARD:0022023,GARD:0018354,Rare developmental defect during embryogenesis +GARD:0017189,GARD:0022522,GARD:0020635,GARD:0018355,Rare hematologic disease +GARD:0017189,GARD:0022531,GARD:0020635,GARD:0018356,Rare genetic disease +GARD:0017189,GARD:0022522,GARD:0020635,GARD:0018356,Rare hematologic disease +GARD:0017189,GARD:0022531,GARD:0020635,GARD:0018355,Rare genetic disease +GARD:0017190,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0017190,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0017190,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0017190,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0017191,GARD:0022511,GARD:0006734,,Rare bone disease +GARD:0017191,GARD:0022531,GARD:0006734,,Rare genetic disease +GARD:0017191,GARD:0022513,GARD:0006734,,Rare developmental defect during embryogenesis +GARD:0017192,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0017192,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0017192,GARD:0022513,GARD:0006734,,Rare developmental defect during embryogenesis +GARD:0017192,GARD:0022511,GARD:0006734,,Rare bone disease +GARD:0017192,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0017192,GARD:0022531,GARD:0006734,,Rare genetic disease +GARD:0017192,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0017193,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0017193,GARD:0022513,GARD:0006734,,Rare developmental defect during embryogenesis +GARD:0017193,GARD:0022531,GARD:0006734,,Rare genetic disease +GARD:0017193,GARD:0022511,GARD:0006734,,Rare bone disease +GARD:0017194,GARD:0022513,GARD:0006734,,Rare developmental defect during embryogenesis +GARD:0017194,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0017194,GARD:0022531,GARD:0006734,,Rare genetic disease +GARD:0017194,GARD:0022511,GARD:0006734,,Rare bone disease +GARD:0017195,GARD:0022531,GARD:0021467,,Rare genetic disease +GARD:0017195,GARD:0022531,GARD:0020172,,Rare genetic disease +GARD:0017195,GARD:0022532,GARD:0021467,,Rare urogenital disease +GARD:0017195,GARD:0022514,GARD:0020172,,Rare gynecologic or obstetric disease +GARD:0017195,GARD:0022513,GARD:0020172,,Rare developmental defect during embryogenesis +GARD:0017195,GARD:0022536,GARD:0020172,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017195,GARD:0022532,GARD:0020172,,Rare urogenital disease +GARD:0017195,GARD:0022521,GARD:0021467,,Rare endocrine disease +GARD:0017195,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0017195,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0017195,GARD:0022513,GARD:0021467,,Rare developmental defect during embryogenesis +GARD:0017196,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0017196,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0017196,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0017196,GARD:0022531,GARD:0021313,,Rare genetic disease +GARD:0017196,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0017196,GARD:0022508,GARD:0021313,,Rare inborn errors of metabolism +GARD:0017197,GARD:0022536,GARD:0008532,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017197,GARD:0022516,GARD:0008532,,Rare gastroenterologic disease +GARD:0017197,GARD:0022535,GARD:0008532,,Rare neoplastic disease +GARD:0017197,GARD:0022531,GARD:0008532,,Rare genetic disease +GARD:0017198,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0017198,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0017198,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0017199,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0017199,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0017199,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0017200,GARD:0022531,GARD:0022097,,Rare genetic disease +GARD:0017200,GARD:0022520,GARD:0022097,,Rare ophthalmic disorder +GARD:0017201,GARD:0022525,GARD:0021453,,Rare systemic or rheumatologic disease +GARD:0017201,GARD:0022531,GARD:0021453,,Rare genetic disease +GARD:0017201,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0017201,GARD:0021079,GARD:0021453,,Rare systemic or rheumatological disease of childhood +GARD:0017201,GARD:0022531,GARD:0022488,,Rare genetic disease +GARD:0017202,GARD:0022522,GARD:0002320,,Rare hematologic disease +GARD:0017202,GARD:0022531,GARD:0002320,,Rare genetic disease +GARD:0017203,GARD:0022531,GARD:0010782,GARD:0018358,Rare genetic disease +GARD:0017203,GARD:0022513,GARD:0019191,GARD:0018358,Rare developmental defect during embryogenesis +GARD:0017203,GARD:0022531,GARD:0010782,GARD:0018359,Rare genetic disease +GARD:0017203,GARD:0022511,GARD:0010782,GARD:0018359,Rare bone disease +GARD:0017203,GARD:0022513,GARD:0010782,GARD:0018358,Rare developmental defect during embryogenesis +GARD:0017203,GARD:0022528,GARD:0010782,GARD:0018359,Rare otorhinolaryngologic disease +GARD:0017203,GARD:0022511,GARD:0019191,GARD:0018359,Rare bone disease +GARD:0017203,GARD:0022520,GARD:0010782,GARD:0018358,Rare ophthalmic disorder +GARD:0017203,GARD:0022511,GARD:0010782,GARD:0018358,Rare bone disease +GARD:0017203,GARD:0022520,GARD:0010782,GARD:0018359,Rare ophthalmic disorder +GARD:0017203,GARD:0022528,GARD:0010782,GARD:0018358,Rare otorhinolaryngologic disease +GARD:0017203,GARD:0022531,GARD:0019191,GARD:0018358,Rare genetic disease +GARD:0017203,GARD:0022513,GARD:0010782,GARD:0018359,Rare developmental defect during embryogenesis +GARD:0017203,GARD:0022513,GARD:0019191,GARD:0018359,Rare developmental defect during embryogenesis +GARD:0017203,GARD:0022507,GARD:0010782,GARD:0018359,Rare maxillo-facial surgical disease +GARD:0017203,GARD:0022531,GARD:0019191,GARD:0018359,Rare genetic disease +GARD:0017203,GARD:0022507,GARD:0010782,GARD:0018358,Rare maxillo-facial surgical disease +GARD:0017203,GARD:0022511,GARD:0019191,GARD:0018358,Rare bone disease +GARD:0017204,GARD:0022507,GARD:0022326,,Rare maxillo-facial surgical disease +GARD:0017204,GARD:0022531,GARD:0020822,,Rare genetic disease +GARD:0017204,GARD:0022513,GARD:0020822,,Rare developmental defect during embryogenesis +GARD:0017204,GARD:0022528,GARD:0022326,,Rare otorhinolaryngologic disease +GARD:0017204,GARD:0022524,GARD:0022326,,Rare neurologic disease +GARD:0017204,GARD:0022526,GARD:0022326,,Rare odontologic disease +GARD:0017204,GARD:0022513,GARD:0022326,,Rare developmental defect during embryogenesis +GARD:0017204,GARD:0022531,GARD:0022326,,Rare genetic disease +GARD:0017205,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0017205,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0017205,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0017206,GARD:0022524,GARD:0021402,,Rare neurologic disease +GARD:0017206,GARD:0022531,GARD:0021402,,Rare genetic disease +GARD:0017207,GARD:0022513,GARD:0019390,,Rare developmental defect during embryogenesis +GARD:0017207,GARD:0022511,GARD:0019206,,Rare bone disease +GARD:0017207,GARD:0022531,GARD:0019206,,Rare genetic disease +GARD:0017207,GARD:0022513,GARD:0019206,,Rare developmental defect during embryogenesis +GARD:0017208,GARD:0022531,GARD:0022096,,Rare genetic disease +GARD:0017208,GARD:0022520,GARD:0022096,,Rare ophthalmic disorder +GARD:0017209,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017209,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0017209,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017209,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0017209,GARD:0022524,GARD:0019414,,Rare neurologic disease +GARD:0017209,GARD:0022524,GARD:0020742,,Rare neurologic disease +GARD:0017209,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0017209,GARD:0022531,GARD:0019414,,Rare genetic disease +GARD:0017210,GARD:0022508,GARD:0018969,,Rare inborn errors of metabolism +GARD:0017210,GARD:0022531,GARD:0018969,,Rare genetic disease +GARD:0017210,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0017210,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017210,GARD:0022513,GARD:0018969,,Rare developmental defect during embryogenesis +GARD:0017210,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0017210,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0017210,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017211,GARD:0022531,GARD:0019408,GARD:0018361,Rare genetic disease +GARD:0017211,GARD:0022513,GARD:0021468,GARD:0015598,Rare developmental defect during embryogenesis +GARD:0017211,GARD:0022529,GARD:0019445,GARD:0015083,Rare infertility +GARD:0017211,GARD:0022531,GARD:0019408,GARD:0015703,Rare genetic disease +GARD:0017211,GARD:0022513,GARD:0021468,GARD:0015083,Rare developmental defect during embryogenesis +GARD:0017211,GARD:0022513,GARD:0021468,GARD:0009159,Rare developmental defect during embryogenesis +GARD:0017211,GARD:0022531,GARD:0019408,GARD:0016109,Rare genetic disease +GARD:0017211,GARD:0022531,GARD:0021468,GARD:0016109,Rare genetic disease +GARD:0017211,GARD:0022531,GARD:0021468,GARD:0015703,Rare genetic disease +GARD:0017211,GARD:0022536,GARD:0022061,GARD:0018360,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017211,GARD:0022536,GARD:0022061,GARD:0016109,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017211,GARD:0022529,GARD:0021683,GARD:0015598,Rare infertility +GARD:0017211,GARD:0022531,GARD:0019445,GARD:0015598,Rare genetic disease +GARD:0017211,GARD:0022531,GARD:0021683,GARD:0015598,Rare genetic disease +GARD:0017211,GARD:0022531,GARD:0021683,GARD:0009159,Rare genetic disease +GARD:0017211,GARD:0022514,GARD:0019408,GARD:0018361,Rare gynecologic or obstetric disease +GARD:0017211,GARD:0022521,GARD:0021468,GARD:0018360,Rare endocrine disease +GARD:0017211,GARD:0022531,GARD:0021683,GARD:0016109,Rare genetic disease +GARD:0017211,GARD:0022531,GARD:0019445,GARD:0016109,Rare genetic disease +GARD:0017211,GARD:0022531,GARD:0021468,GARD:0018360,Rare genetic disease +GARD:0017211,GARD:0022521,GARD:0021468,GARD:0009159,Rare endocrine disease +GARD:0017211,GARD:0022529,GARD:0019445,GARD:0015703,Rare infertility +GARD:0017211,GARD:0022532,GARD:0021468,GARD:0015598,Rare urogenital disease +GARD:0017211,GARD:0022513,GARD:0021468,GARD:0018361,Rare developmental defect during embryogenesis +GARD:0017211,GARD:0022521,GARD:0021468,GARD:0015598,Rare endocrine disease +GARD:0017211,GARD:0022521,GARD:0021468,GARD:0015083,Rare endocrine disease +GARD:0017211,GARD:0022531,GARD:0021468,GARD:0015083,Rare genetic disease +GARD:0017211,GARD:0022531,GARD:0019408,GARD:0015598,Rare genetic disease +GARD:0017211,GARD:0022514,GARD:0019408,GARD:0015598,Rare gynecologic or obstetric disease +GARD:0017211,GARD:0022531,GARD:0019408,GARD:0009159,Rare genetic disease +GARD:0017211,GARD:0022531,GARD:0021468,GARD:0009159,Rare genetic disease +GARD:0017211,GARD:0022536,GARD:0022061,GARD:0015083,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017211,GARD:0022529,GARD:0021683,GARD:0009159,Rare infertility +GARD:0017211,GARD:0022531,GARD:0021683,GARD:0015083,Rare genetic disease +GARD:0017211,GARD:0022514,GARD:0019408,GARD:0009159,Rare gynecologic or obstetric disease +GARD:0017211,GARD:0022536,GARD:0022061,GARD:0018361,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017211,GARD:0022514,GARD:0019408,GARD:0015703,Rare gynecologic or obstetric disease +GARD:0017211,GARD:0022513,GARD:0021468,GARD:0015703,Rare developmental defect during embryogenesis +GARD:0017211,GARD:0022536,GARD:0022061,GARD:0009159,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017211,GARD:0022531,GARD:0019445,GARD:0009159,Rare genetic disease +GARD:0017211,GARD:0022529,GARD:0019445,GARD:0018360,Rare infertility +GARD:0017211,GARD:0022531,GARD:0019445,GARD:0015083,Rare genetic disease +GARD:0017211,GARD:0022514,GARD:0019408,GARD:0018360,Rare gynecologic or obstetric disease +GARD:0017211,GARD:0022521,GARD:0021468,GARD:0016109,Rare endocrine disease +GARD:0017211,GARD:0022532,GARD:0021468,GARD:0009159,Rare urogenital disease +GARD:0017211,GARD:0022529,GARD:0021683,GARD:0016109,Rare infertility +GARD:0017211,GARD:0022531,GARD:0019408,GARD:0015083,Rare genetic disease +GARD:0017211,GARD:0022513,GARD:0021468,GARD:0016109,Rare developmental defect during embryogenesis +GARD:0017211,GARD:0022514,GARD:0019408,GARD:0016109,Rare gynecologic or obstetric disease +GARD:0017211,GARD:0022531,GARD:0021683,GARD:0015703,Rare genetic disease +GARD:0017211,GARD:0022532,GARD:0021468,GARD:0018361,Rare urogenital disease +GARD:0017211,GARD:0022521,GARD:0021468,GARD:0018361,Rare endocrine disease +GARD:0017211,GARD:0022529,GARD:0019445,GARD:0016109,Rare infertility +GARD:0017211,GARD:0022521,GARD:0021468,GARD:0015703,Rare endocrine disease +GARD:0017211,GARD:0022531,GARD:0021683,GARD:0018361,Rare genetic disease +GARD:0017211,GARD:0022531,GARD:0021468,GARD:0018361,Rare genetic disease +GARD:0017211,GARD:0022532,GARD:0021468,GARD:0018360,Rare urogenital disease +GARD:0017211,GARD:0022531,GARD:0021468,GARD:0015598,Rare genetic disease +GARD:0017211,GARD:0022531,GARD:0019445,GARD:0015703,Rare genetic disease +GARD:0017211,GARD:0022529,GARD:0021683,GARD:0015703,Rare infertility +GARD:0017211,GARD:0022531,GARD:0019445,GARD:0018360,Rare genetic disease +GARD:0017211,GARD:0022532,GARD:0021468,GARD:0016109,Rare urogenital disease +GARD:0017211,GARD:0022536,GARD:0022061,GARD:0015598,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017211,GARD:0022532,GARD:0021468,GARD:0015703,Rare urogenital disease +GARD:0017211,GARD:0022529,GARD:0021683,GARD:0018361,Rare infertility +GARD:0017211,GARD:0022529,GARD:0021683,GARD:0018360,Rare infertility +GARD:0017211,GARD:0022531,GARD:0019408,GARD:0018360,Rare genetic disease +GARD:0017211,GARD:0022536,GARD:0022061,GARD:0015703,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017211,GARD:0022513,GARD:0021468,GARD:0018360,Rare developmental defect during embryogenesis +GARD:0017211,GARD:0022529,GARD:0019445,GARD:0018361,Rare infertility +GARD:0017211,GARD:0022531,GARD:0021683,GARD:0018360,Rare genetic disease +GARD:0017211,GARD:0022529,GARD:0019445,GARD:0015598,Rare infertility +GARD:0017211,GARD:0022529,GARD:0019445,GARD:0009159,Rare infertility +GARD:0017211,GARD:0022529,GARD:0021683,GARD:0015083,Rare infertility +GARD:0017211,GARD:0022514,GARD:0019408,GARD:0015083,Rare gynecologic or obstetric disease +GARD:0017211,GARD:0022531,GARD:0019445,GARD:0018361,Rare genetic disease +GARD:0017211,GARD:0022532,GARD:0021468,GARD:0015083,Rare urogenital disease +GARD:0017212,GARD:0022513,GARD:0000786,,Rare developmental defect during embryogenesis +GARD:0017212,GARD:0022531,GARD:0000786,,Rare genetic disease +GARD:0017213,GARD:0022531,GARD:0019015,,Rare genetic disease +GARD:0017213,GARD:0022508,GARD:0021356,,Rare inborn errors of metabolism +GARD:0017213,GARD:0022510,GARD:0019015,,Rare skin disease +GARD:0017213,GARD:0022525,GARD:0021454,,Rare systemic or rheumatologic disease +GARD:0017213,GARD:0022531,GARD:0022488,,Rare genetic disease +GARD:0017213,GARD:0021079,GARD:0021459,,Rare systemic or rheumatological disease of childhood +GARD:0017213,GARD:0022531,GARD:0021356,,Rare genetic disease +GARD:0017213,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0017214,GARD:0022524,GARD:0007005,,Rare neurologic disease +GARD:0017214,GARD:0022535,GARD:0007005,,Rare neoplastic disease +GARD:0017215,GARD:0022535,GARD:0007005,,Rare neoplastic disease +GARD:0017215,GARD:0022524,GARD:0007005,,Rare neurologic disease +GARD:0017216,GARD:0022524,GARD:0007005,,Rare neurologic disease +GARD:0017216,GARD:0022535,GARD:0007005,,Rare neoplastic disease +GARD:0017217,GARD:0022535,GARD:0019921,GARD:0018364,Rare neoplastic disease +GARD:0017217,GARD:0022524,GARD:0020742,GARD:0018363,Rare neurologic disease +GARD:0017217,GARD:0022531,GARD:0019921,GARD:0018362,Rare genetic disease +GARD:0017217,GARD:0022531,GARD:0021513,GARD:0000420,Rare genetic disease +GARD:0017217,GARD:0022531,GARD:0021513,GARD:0018362,Rare genetic disease +GARD:0017217,GARD:0022531,GARD:0019921,GARD:0018363,Rare genetic disease +GARD:0017217,GARD:0022536,GARD:0021513,GARD:0018362,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017217,GARD:0022535,GARD:0019921,GARD:0018363,Rare neoplastic disease +GARD:0017217,GARD:0022535,GARD:0019921,GARD:0018362,Rare neoplastic disease +GARD:0017217,GARD:0022524,GARD:0020742,GARD:0000420,Rare neurologic disease +GARD:0017217,GARD:0022531,GARD:0021513,GARD:0018363,Rare genetic disease +GARD:0017217,GARD:0022523,GARD:0021513,GARD:0000420,Rare immune disease +GARD:0017217,GARD:0022531,GARD:0021513,GARD:0018364,Rare genetic disease +GARD:0017217,GARD:0022531,GARD:0019921,GARD:0000420,Rare genetic disease +GARD:0017217,GARD:0022524,GARD:0020742,GARD:0018362,Rare neurologic disease +GARD:0017217,GARD:0022523,GARD:0021513,GARD:0018362,Rare immune disease +GARD:0017217,GARD:0022535,GARD:0019921,GARD:0000420,Rare neoplastic disease +GARD:0017217,GARD:0022531,GARD:0019921,GARD:0018364,Rare genetic disease +GARD:0017217,GARD:0022524,GARD:0020742,GARD:0018364,Rare neurologic disease +GARD:0017217,GARD:0022523,GARD:0021513,GARD:0018364,Rare immune disease +GARD:0017217,GARD:0022536,GARD:0021513,GARD:0018363,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017217,GARD:0022536,GARD:0021513,GARD:0000420,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017217,GARD:0022523,GARD:0021513,GARD:0018363,Rare immune disease +GARD:0017217,GARD:0022536,GARD:0021513,GARD:0018364,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017218,GARD:0022513,GARD:0020827,,Rare developmental defect during embryogenesis +GARD:0017218,GARD:0022531,GARD:0020827,,Rare genetic disease +GARD:0017219,GARD:0022513,GARD:0019832,GARD:0017221,Rare developmental defect during embryogenesis +GARD:0017219,GARD:0022513,GARD:0019832,GARD:0017223,Rare developmental defect during embryogenesis +GARD:0017219,GARD:0022524,GARD:0019832,GARD:0017221,Rare neurologic disease +GARD:0017219,GARD:0022531,GARD:0022441,GARD:0017223,Rare genetic disease +GARD:0017219,GARD:0022531,GARD:0022441,GARD:0005409,Rare genetic disease +GARD:0017219,GARD:0022531,GARD:0022441,GARD:0017221,Rare genetic disease +GARD:0017219,GARD:0022524,GARD:0019832,GARD:0017223,Rare neurologic disease +GARD:0017219,GARD:0022524,GARD:0019832,GARD:0005409,Rare neurologic disease +GARD:0017219,GARD:0022513,GARD:0019832,GARD:0005409,Rare developmental defect during embryogenesis +GARD:0017220,GARD:0022521,GARD:0013431,,Rare endocrine disease +GARD:0017220,GARD:0022513,GARD:0013431,,Rare developmental defect during embryogenesis +GARD:0017220,GARD:0022513,GARD:0020833,,Rare developmental defect during embryogenesis +GARD:0017220,GARD:0022524,GARD:0013431,,Rare neurologic disease +GARD:0017220,GARD:0022531,GARD:0013431,,Rare genetic disease +GARD:0017220,GARD:0022531,GARD:0020833,,Rare genetic disease +GARD:0017221,GARD:0022513,GARD:0017219,,Rare developmental defect during embryogenesis +GARD:0017221,GARD:0022524,GARD:0017219,,Rare neurologic disease +GARD:0017221,GARD:0022513,GARD:0020833,,Rare developmental defect during embryogenesis +GARD:0017221,GARD:0022531,GARD:0020833,,Rare genetic disease +GARD:0017221,GARD:0022531,GARD:0017219,,Rare genetic disease +GARD:0017222,GARD:0022531,GARD:0013431,,Rare genetic disease +GARD:0017222,GARD:0022524,GARD:0013431,,Rare neurologic disease +GARD:0017222,GARD:0022521,GARD:0013431,,Rare endocrine disease +GARD:0017222,GARD:0022513,GARD:0013431,,Rare developmental defect during embryogenesis +GARD:0017223,GARD:0022513,GARD:0017219,,Rare developmental defect during embryogenesis +GARD:0017223,GARD:0022524,GARD:0017219,,Rare neurologic disease +GARD:0017223,GARD:0022531,GARD:0017219,,Rare genetic disease +GARD:0017224,GARD:0022535,GARD:0010263,GARD:0018365,Rare neoplastic disease +GARD:0017224,GARD:0022514,GARD:0010263,GARD:0018366,Rare gynecologic or obstetric disease +GARD:0017224,GARD:0022514,GARD:0010263,GARD:0018365,Rare gynecologic or obstetric disease +GARD:0017224,GARD:0022514,GARD:0010263,GARD:0018368,Rare gynecologic or obstetric disease +GARD:0017224,GARD:0022535,GARD:0010263,GARD:0018367,Rare neoplastic disease +GARD:0017224,GARD:0022535,GARD:0010263,GARD:0018368,Rare neoplastic disease +GARD:0017224,GARD:0022514,GARD:0010263,GARD:0018367,Rare gynecologic or obstetric disease +GARD:0017224,GARD:0022535,GARD:0010263,GARD:0018366,Rare neoplastic disease +GARD:0017225,GARD:0022531,GARD:0013643,GARD:0003681,Rare genetic disease +GARD:0017225,GARD:0022508,GARD:0013643,GARD:0003681,Rare inborn errors of metabolism +GARD:0017225,GARD:0022524,GARD:0018890,GARD:0003681,Rare neurologic disease +GARD:0017225,GARD:0022508,GARD:0013643,GARD:0013200,Rare inborn errors of metabolism +GARD:0017225,GARD:0022531,GARD:0013643,GARD:0013298,Rare genetic disease +GARD:0017225,GARD:0022508,GARD:0013643,GARD:0013298,Rare inborn errors of metabolism +GARD:0017225,GARD:0022531,GARD:0018890,GARD:0003163,Rare genetic disease +GARD:0017225,GARD:0022531,GARD:0018890,GARD:0013298,Rare genetic disease +GARD:0017225,GARD:0022524,GARD:0018890,GARD:0003163,Rare neurologic disease +GARD:0017225,GARD:0022531,GARD:0013643,GARD:0013200,Rare genetic disease +GARD:0017225,GARD:0022531,GARD:0018890,GARD:0003681,Rare genetic disease +GARD:0017225,GARD:0022531,GARD:0013643,GARD:0003163,Rare genetic disease +GARD:0017225,GARD:0022531,GARD:0018890,GARD:0013200,Rare genetic disease +GARD:0017225,GARD:0022524,GARD:0018890,GARD:0013298,Rare neurologic disease +GARD:0017225,GARD:0022524,GARD:0018890,GARD:0013200,Rare neurologic disease +GARD:0017225,GARD:0022508,GARD:0013643,GARD:0003163,Rare inborn errors of metabolism +GARD:0017226,GARD:0022508,GARD:0020757,,Rare inborn errors of metabolism +GARD:0017226,GARD:0022531,GARD:0020757,,Rare genetic disease +GARD:0017227,GARD:0022508,GARD:0020757,,Rare inborn errors of metabolism +GARD:0017227,GARD:0022531,GARD:0020757,,Rare genetic disease +GARD:0017228,GARD:0022508,GARD:0018967,GARD:0018369,Rare inborn errors of metabolism +GARD:0017228,GARD:0022531,GARD:0018890,GARD:0018369,Rare genetic disease +GARD:0017228,GARD:0022531,GARD:0013643,GARD:0018370,Rare genetic disease +GARD:0017228,GARD:0022524,GARD:0020371,GARD:0018369,Rare neurologic disease +GARD:0017228,GARD:0022508,GARD:0018967,GARD:0018370,Rare inborn errors of metabolism +GARD:0017228,GARD:0022524,GARD:0018890,GARD:0018370,Rare neurologic disease +GARD:0017228,GARD:0022508,GARD:0013643,GARD:0018369,Rare inborn errors of metabolism +GARD:0017228,GARD:0022531,GARD:0018890,GARD:0018370,Rare genetic disease +GARD:0017228,GARD:0022531,GARD:0020371,GARD:0018370,Rare genetic disease +GARD:0017228,GARD:0022531,GARD:0018967,GARD:0018369,Rare genetic disease +GARD:0017228,GARD:0022531,GARD:0020371,GARD:0018369,Rare genetic disease +GARD:0017228,GARD:0022531,GARD:0013643,GARD:0018369,Rare genetic disease +GARD:0017228,GARD:0022524,GARD:0020371,GARD:0018370,Rare neurologic disease +GARD:0017228,GARD:0022508,GARD:0013643,GARD:0018370,Rare inborn errors of metabolism +GARD:0017228,GARD:0022531,GARD:0018967,GARD:0018370,Rare genetic disease +GARD:0017228,GARD:0022524,GARD:0018890,GARD:0018369,Rare neurologic disease +GARD:0017229,GARD:0022508,GARD:0020759,,Rare inborn errors of metabolism +GARD:0017229,GARD:0022531,GARD:0020759,,Rare genetic disease +GARD:0017230,GARD:0022531,GARD:0010423,,Rare genetic disease +GARD:0017230,GARD:0022508,GARD:0010423,,Rare inborn errors of metabolism +GARD:0017230,GARD:0022524,GARD:0010423,,Rare neurologic disease +GARD:0017231,GARD:0022531,GARD:0021322,,Rare genetic disease +GARD:0017231,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0017231,GARD:0022508,GARD:0021322,,Rare inborn errors of metabolism +GARD:0017231,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0017232,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017232,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017233,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017233,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017234,GARD:0022531,GARD:0022015,,Rare genetic disease +GARD:0017234,GARD:0022524,GARD:0022015,,Rare neurologic disease +GARD:0017234,GARD:0022520,GARD:0022015,,Rare ophthalmic disorder +GARD:0017234,GARD:0022508,GARD:0022015,,Rare inborn errors of metabolism +GARD:0017235,GARD:0022531,GARD:0019453,,Rare genetic disease +GARD:0017235,GARD:0022522,GARD:0019453,,Rare hematologic disease +GARD:0017235,GARD:0022531,GARD:0020762,,Rare genetic disease +GARD:0017235,GARD:0022508,GARD:0020762,,Rare inborn errors of metabolism +GARD:0017236,GARD:0022531,GARD:0007513,,Rare genetic disease +GARD:0017236,GARD:0022508,GARD:0007513,,Rare inborn errors of metabolism +GARD:0017236,GARD:0022524,GARD:0007513,,Rare neurologic disease +GARD:0017237,GARD:0022524,GARD:0007513,,Rare neurologic disease +GARD:0017237,GARD:0022531,GARD:0007513,,Rare genetic disease +GARD:0017237,GARD:0022508,GARD:0007513,,Rare inborn errors of metabolism +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0016314,Rare inborn errors of metabolism +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0016315,Rare neurologic disease +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0016315,Rare neurologic disease +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0016312,Rare inborn errors of metabolism +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0018377,Rare neurologic disease +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0018374,Rare inborn errors of metabolism +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0016325,Rare genetic disease +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0016318,Rare neurologic disease +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0018373,Rare inborn errors of metabolism +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0016318,Rare inborn errors of metabolism +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0018371,Rare inborn errors of metabolism +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0015201,Rare genetic disease +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0013019,Rare neurologic disease +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0016313,Rare ophthalmic disorder +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0016325,Rare genetic disease +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0016315,Rare ophthalmic disorder +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0015201,Rare ophthalmic disorder +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0018375,Rare neurologic disease +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0016318,Rare ophthalmic disorder +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0018375,Rare genetic disease +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0016326,Rare neurologic disease +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0016325,Rare neurologic disease +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0018372,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0016313,Rare genetic disease +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0013019,Rare inborn errors of metabolism +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0016326,Rare ophthalmic disorder +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0016316,Rare inborn errors of metabolism +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0018372,Rare inborn errors of metabolism +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0018373,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0018377,Rare genetic disease +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0013019,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0018377,Rare genetic disease +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0016315,Rare inborn errors of metabolism +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0016315,Rare genetic disease +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0016313,Rare inborn errors of metabolism +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0016317,Rare neurologic disease +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0018371,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0018372,Rare genetic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0015201,Rare genetic disease +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0018375,Rare ophthalmic disorder +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0018372,Rare ophthalmic disorder +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0018376,Rare ophthalmic disorder +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0016326,Rare neurologic disease +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0016312,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0018374,Rare genetic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0013019,Rare genetic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0016317,Rare genetic disease +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0016320,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0016320,Rare genetic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0018371,Rare genetic disease +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0018373,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0016326,Rare genetic disease +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0018371,Rare ophthalmic disorder +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0018374,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0013019,Rare genetic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0018371,Rare genetic disease +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0016325,Rare inborn errors of metabolism +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0015201,Rare inborn errors of metabolism +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0016326,Rare genetic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0016313,Rare genetic disease +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0016314,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0016320,Rare genetic disease +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0015201,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0016312,Rare genetic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0018376,Rare genetic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0018376,Rare genetic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0016316,Rare genetic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0016317,Rare genetic disease +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0016325,Rare neurologic disease +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0016316,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0018375,Rare genetic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0016315,Rare genetic disease +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0016312,Rare ophthalmic disorder +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0018374,Rare genetic disease +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0016320,Rare inborn errors of metabolism +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0016316,Rare ophthalmic disorder +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0016312,Rare genetic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0018373,Rare genetic disease +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0016314,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0016318,Rare genetic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0016318,Rare genetic disease +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0016318,Rare neurologic disease +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0013019,Rare ophthalmic disorder +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0018376,Rare neurologic disease +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0018374,Rare ophthalmic disorder +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0018373,Rare ophthalmic disorder +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0016317,Rare ophthalmic disorder +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0018375,Rare inborn errors of metabolism +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0018372,Rare neurologic disease +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0016317,Rare inborn errors of metabolism +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0016313,Rare neurologic disease +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0015201,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0018372,Rare genetic disease +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0016326,Rare inborn errors of metabolism +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0016313,Rare neurologic disease +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0018374,Rare neurologic disease +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0016314,Rare ophthalmic disorder +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0016320,Rare ophthalmic disorder +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0016325,Rare ophthalmic disorder +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0016320,Rare neurologic disease +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0018376,Rare neurologic disease +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0018377,Rare inborn errors of metabolism +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0016317,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0016316,Rare genetic disease +GARD:0017238,GARD:0022508,GARD:0006877,GARD:0018376,Rare inborn errors of metabolism +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0018375,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0016314,Rare genetic disease +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0016316,Rare neurologic disease +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0018377,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0022440,GARD:0018373,Rare genetic disease +GARD:0017238,GARD:0022520,GARD:0006877,GARD:0018377,Rare ophthalmic disorder +GARD:0017238,GARD:0022524,GARD:0006877,GARD:0018371,Rare neurologic disease +GARD:0017238,GARD:0022531,GARD:0006877,GARD:0016314,Rare genetic disease +GARD:0017238,GARD:0022524,GARD:0022440,GARD:0016312,Rare neurologic disease +GARD:0017239,GARD:0022531,GARD:0022293,GARD:0018378,Rare genetic disease +GARD:0017239,GARD:0022508,GARD:0010423,GARD:0018379,Rare inborn errors of metabolism +GARD:0017239,GARD:0022524,GARD:0010423,GARD:0018378,Rare neurologic disease +GARD:0017239,GARD:0022508,GARD:0010423,GARD:0018378,Rare inborn errors of metabolism +GARD:0017239,GARD:0022531,GARD:0022440,GARD:0018379,Rare genetic disease +GARD:0017239,GARD:0022536,GARD:0022293,GARD:0018378,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017239,GARD:0022531,GARD:0022293,GARD:0018379,Rare genetic disease +GARD:0017239,GARD:0022524,GARD:0022440,GARD:0018379,Rare neurologic disease +GARD:0017239,GARD:0022520,GARD:0006877,GARD:0018379,Rare ophthalmic disorder +GARD:0017239,GARD:0022524,GARD:0006877,GARD:0018379,Rare neurologic disease +GARD:0017239,GARD:0022508,GARD:0006877,GARD:0018379,Rare inborn errors of metabolism +GARD:0017239,GARD:0022536,GARD:0022293,GARD:0018379,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017239,GARD:0022531,GARD:0022440,GARD:0018378,Rare genetic disease +GARD:0017239,GARD:0022531,GARD:0010423,GARD:0018379,Rare genetic disease +GARD:0017239,GARD:0022524,GARD:0022440,GARD:0018378,Rare neurologic disease +GARD:0017239,GARD:0022512,GARD:0019229,GARD:0018378,Rare renal disease +GARD:0017239,GARD:0022531,GARD:0006877,GARD:0018379,Rare genetic disease +GARD:0017239,GARD:0022520,GARD:0006877,GARD:0018378,Rare ophthalmic disorder +GARD:0017239,GARD:0022531,GARD:0019229,GARD:0018378,Rare genetic disease +GARD:0017239,GARD:0022531,GARD:0019229,GARD:0018379,Rare genetic disease +GARD:0017239,GARD:0022512,GARD:0022293,GARD:0018379,Rare renal disease +GARD:0017239,GARD:0022512,GARD:0019229,GARD:0018379,Rare renal disease +GARD:0017239,GARD:0022508,GARD:0006877,GARD:0018378,Rare inborn errors of metabolism +GARD:0017239,GARD:0022512,GARD:0022293,GARD:0018378,Rare renal disease +GARD:0017239,GARD:0022524,GARD:0006877,GARD:0018378,Rare neurologic disease +GARD:0017239,GARD:0022531,GARD:0006877,GARD:0018378,Rare genetic disease +GARD:0017239,GARD:0022524,GARD:0010423,GARD:0018379,Rare neurologic disease +GARD:0017239,GARD:0022531,GARD:0010423,GARD:0018378,Rare genetic disease +GARD:0017240,GARD:0022531,GARD:0019453,GARD:0018381,Rare genetic disease +GARD:0017240,GARD:0022522,GARD:0019453,GARD:0018381,Rare hematologic disease +GARD:0017240,GARD:0022522,GARD:0019453,GARD:0018380,Rare hematologic disease +GARD:0017240,GARD:0022531,GARD:0019453,GARD:0018380,Rare genetic disease +GARD:0017241,GARD:0022513,GARD:0020833,,Rare developmental defect during embryogenesis +GARD:0017241,GARD:0022531,GARD:0020833,,Rare genetic disease +GARD:0017242,GARD:0022531,GARD:0020834,,Rare genetic disease +GARD:0017242,GARD:0022513,GARD:0020834,,Rare developmental defect during embryogenesis +GARD:0017243,GARD:0022531,GARD:0020816,,Rare genetic disease +GARD:0017243,GARD:0022513,GARD:0020816,,Rare developmental defect during embryogenesis +GARD:0017244,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0017244,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0017244,GARD:0022531,GARD:0020816,,Rare genetic disease +GARD:0017244,GARD:0022513,GARD:0020816,,Rare developmental defect during embryogenesis +GARD:0017244,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0017245,GARD:0022513,GARD:0020841,,Rare developmental defect during embryogenesis +GARD:0017245,GARD:0022531,GARD:0020841,,Rare genetic disease +GARD:0017246,GARD:0022508,GARD:0021311,,Rare inborn errors of metabolism +GARD:0017246,GARD:0022513,GARD:0020912,,Rare developmental defect during embryogenesis +GARD:0017246,GARD:0022531,GARD:0020912,,Rare genetic disease +GARD:0017246,GARD:0022531,GARD:0021311,,Rare genetic disease +GARD:0017246,GARD:0022531,GARD:0022385,,Rare genetic disease +GARD:0017246,GARD:0022521,GARD:0022385,,Rare endocrine disease +GARD:0017247,GARD:0022531,GARD:0020917,,Rare genetic disease +GARD:0017247,GARD:0022513,GARD:0020917,,Rare developmental defect during embryogenesis +GARD:0017248,GARD:0022513,GARD:0020822,,Rare developmental defect during embryogenesis +GARD:0017248,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0017248,GARD:0022534,GARD:0009673,,Rare abdominal surgical disease +GARD:0017248,GARD:0022531,GARD:0020822,,Rare genetic disease +GARD:0017248,GARD:0022536,GARD:0009673,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017248,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0017248,GARD:0022513,GARD:0009673,,Rare developmental defect during embryogenesis +GARD:0017248,GARD:0022524,GARD:0009673,,Rare neurologic disease +GARD:0017248,GARD:0022531,GARD:0009673,,Rare genetic disease +GARD:0017249,GARD:0022536,GARD:0009673,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017249,GARD:0022513,GARD:0009673,,Rare developmental defect during embryogenesis +GARD:0017249,GARD:0022534,GARD:0009673,,Rare abdominal surgical disease +GARD:0017249,GARD:0022531,GARD:0009673,,Rare genetic disease +GARD:0017249,GARD:0022524,GARD:0009673,,Rare neurologic disease +GARD:0017250,GARD:0022531,GARD:0020820,,Rare genetic disease +GARD:0017250,GARD:0022535,GARD:0000804,,Rare neoplastic disease +GARD:0017250,GARD:0022513,GARD:0000804,,Rare developmental defect during embryogenesis +GARD:0017250,GARD:0022536,GARD:0000804,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017250,GARD:0022512,GARD:0000804,,Rare renal disease +GARD:0017250,GARD:0022534,GARD:0000804,,Rare abdominal surgical disease +GARD:0017250,GARD:0022519,GARD:0000804,,Rare surgical cardiac disease +GARD:0017250,GARD:0022513,GARD:0020820,,Rare developmental defect during embryogenesis +GARD:0017250,GARD:0022520,GARD:0000804,,Rare ophthalmic disorder +GARD:0017250,GARD:0022531,GARD:0000804,,Rare genetic disease +GARD:0017250,GARD:0022506,GARD:0000804,,Rare hepatic disease +GARD:0017251,GARD:0022534,GARD:0000804,,Rare abdominal surgical disease +GARD:0017251,GARD:0022512,GARD:0000804,,Rare renal disease +GARD:0017251,GARD:0022506,GARD:0000804,,Rare hepatic disease +GARD:0017251,GARD:0022531,GARD:0000804,,Rare genetic disease +GARD:0017251,GARD:0022535,GARD:0000804,,Rare neoplastic disease +GARD:0017251,GARD:0022520,GARD:0000804,,Rare ophthalmic disorder +GARD:0017251,GARD:0022519,GARD:0000804,,Rare surgical cardiac disease +GARD:0017251,GARD:0022536,GARD:0000804,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017251,GARD:0022513,GARD:0000804,,Rare developmental defect during embryogenesis +GARD:0017252,GARD:0022531,GARD:0000804,,Rare genetic disease +GARD:0017252,GARD:0022513,GARD:0000804,,Rare developmental defect during embryogenesis +GARD:0017252,GARD:0022506,GARD:0000804,,Rare hepatic disease +GARD:0017252,GARD:0022512,GARD:0000804,,Rare renal disease +GARD:0017252,GARD:0022520,GARD:0000804,,Rare ophthalmic disorder +GARD:0017252,GARD:0022534,GARD:0000804,,Rare abdominal surgical disease +GARD:0017252,GARD:0022536,GARD:0000804,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017252,GARD:0022519,GARD:0000804,,Rare surgical cardiac disease +GARD:0017252,GARD:0022535,GARD:0000804,,Rare neoplastic disease +GARD:0017253,GARD:0022524,GARD:0008672,GARD:0018382,Rare neurologic disease +GARD:0017253,GARD:0022531,GARD:0008672,GARD:0018382,Rare genetic disease +GARD:0017253,GARD:0022513,GARD:0008672,GARD:0018382,Rare developmental defect during embryogenesis +GARD:0017254,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0017254,GARD:0022531,GARD:0020370,,Rare genetic disease +GARD:0017254,GARD:0022524,GARD:0020370,,Rare neurologic disease +GARD:0017254,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0017255,GARD:0022531,GARD:0019538,GARD:0018383,Rare genetic disease +GARD:0017255,GARD:0022531,GARD:0022170,GARD:0018383,Rare genetic disease +GARD:0017255,GARD:0022520,GARD:0019538,GARD:0018383,Rare ophthalmic disorder +GARD:0017255,GARD:0022520,GARD:0019527,GARD:0018383,Rare ophthalmic disorder +GARD:0017256,GARD:0022531,GARD:0021053,,Rare genetic disease +GARD:0017256,GARD:0022521,GARD:0021053,,Rare endocrine disease +GARD:0017257,GARD:0022509,GARD:0019433,GARD:0018384,Rare infectious disease +GARD:0017257,GARD:0022524,GARD:0019433,GARD:0018384,Rare neurologic disease +GARD:0017258,GARD:0022531,GARD:0012862,,Rare genetic disease +GARD:0017258,GARD:0022510,GARD:0012862,,Rare skin disease +GARD:0017259,GARD:0022531,GARD:0012862,,Rare genetic disease +GARD:0017259,GARD:0022510,GARD:0012862,,Rare skin disease +GARD:0017260,GARD:0022524,GARD:0020737,GARD:0018385,Rare neurologic disease +GARD:0017260,GARD:0022535,GARD:0020737,GARD:0018385,Rare neoplastic disease +GARD:0017261,GARD:0022508,GARD:0018691,GARD:0018387,Rare inborn errors of metabolism +GARD:0017261,GARD:0022508,GARD:0018691,GARD:0018386,Rare inborn errors of metabolism +GARD:0017261,GARD:0022531,GARD:0019790,GARD:0018387,Rare genetic disease +GARD:0017261,GARD:0022506,GARD:0019790,GARD:0018387,Rare hepatic disease +GARD:0017261,GARD:0022531,GARD:0018691,GARD:0018387,Rare genetic disease +GARD:0017261,GARD:0022531,GARD:0018691,GARD:0018386,Rare genetic disease +GARD:0017261,GARD:0022531,GARD:0019790,GARD:0018386,Rare genetic disease +GARD:0017261,GARD:0022506,GARD:0019790,GARD:0018386,Rare hepatic disease +GARD:0017262,GARD:0022523,GARD:0020116,,Rare immune disease +GARD:0017262,GARD:0022522,GARD:0020131,,Rare hematologic disease +GARD:0017262,GARD:0022531,GARD:0020116,,Rare genetic disease +GARD:0017262,GARD:0022535,GARD:0020633,,Rare neoplastic disease +GARD:0017262,GARD:0022535,GARD:0020131,,Rare neoplastic disease +GARD:0017262,GARD:0022523,GARD:0020633,,Rare immune disease +GARD:0017262,GARD:0022531,GARD:0020633,,Rare genetic disease +GARD:0017262,GARD:0022536,GARD:0020131,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017262,GARD:0022536,GARD:0020633,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017262,GARD:0022536,GARD:0020116,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017263,GARD:0022508,GARD:0003228,,Rare inborn errors of metabolism +GARD:0017263,GARD:0022531,GARD:0003228,,Rare genetic disease +GARD:0017264,GARD:0022508,GARD:0003228,GARD:0018388,Rare inborn errors of metabolism +GARD:0017264,GARD:0022531,GARD:0003228,GARD:0018388,Rare genetic disease +GARD:0017265,GARD:0022508,GARD:0003228,,Rare inborn errors of metabolism +GARD:0017265,GARD:0022531,GARD:0003228,,Rare genetic disease +GARD:0017266,GARD:0022531,GARD:0003228,,Rare genetic disease +GARD:0017266,GARD:0022508,GARD:0003228,,Rare inborn errors of metabolism +GARD:0017267,GARD:0022522,GARD:0021968,GARD:0005176,Rare hematologic disease +GARD:0017267,GARD:0022531,GARD:0021968,GARD:0017041,Rare genetic disease +GARD:0017267,GARD:0022531,GARD:0021968,GARD:0005176,Rare genetic disease +GARD:0017267,GARD:0022522,GARD:0021968,GARD:0017041,Rare hematologic disease +GARD:0017268,GARD:0022524,GARD:0018796,GARD:0007673,Rare neurologic disease +GARD:0017268,GARD:0022531,GARD:0018796,GARD:0010504,Rare genetic disease +GARD:0017268,GARD:0022513,GARD:0018796,GARD:0020967,Rare developmental defect during embryogenesis +GARD:0017268,GARD:0022524,GARD:0018796,GARD:0010504,Rare neurologic disease +GARD:0017268,GARD:0022513,GARD:0018796,GARD:0007673,Rare developmental defect during embryogenesis +GARD:0017268,GARD:0022524,GARD:0018796,GARD:0010506,Rare neurologic disease +GARD:0017268,GARD:0022531,GARD:0018796,GARD:0010506,Rare genetic disease +GARD:0017268,GARD:0022531,GARD:0018796,GARD:0007673,Rare genetic disease +GARD:0017268,GARD:0022513,GARD:0018796,GARD:0020972,Rare developmental defect during embryogenesis +GARD:0017268,GARD:0022513,GARD:0018796,GARD:0010504,Rare developmental defect during embryogenesis +GARD:0017268,GARD:0022531,GARD:0018796,GARD:0020972,Rare genetic disease +GARD:0017268,GARD:0022513,GARD:0018796,GARD:0010506,Rare developmental defect during embryogenesis +GARD:0017268,GARD:0022524,GARD:0018796,GARD:0020967,Rare neurologic disease +GARD:0017268,GARD:0022513,GARD:0018796,GARD:0005808,Rare developmental defect during embryogenesis +GARD:0017268,GARD:0022524,GARD:0018796,GARD:0005808,Rare neurologic disease +GARD:0017268,GARD:0022524,GARD:0018796,GARD:0020972,Rare neurologic disease +GARD:0017268,GARD:0022531,GARD:0018796,GARD:0020967,Rare genetic disease +GARD:0017269,GARD:0022531,GARD:0018818,GARD:0010783,Rare genetic disease +GARD:0017269,GARD:0022513,GARD:0018818,GARD:0010786,Rare developmental defect during embryogenesis +GARD:0017269,GARD:0022531,GARD:0018818,GARD:0010786,Rare genetic disease +GARD:0017269,GARD:0022531,GARD:0018818,GARD:0010785,Rare genetic disease +GARD:0017269,GARD:0022531,GARD:0018818,GARD:0010784,Rare genetic disease +GARD:0017269,GARD:0022524,GARD:0018818,GARD:0010784,Rare neurologic disease +GARD:0017269,GARD:0022524,GARD:0018818,GARD:0010783,Rare neurologic disease +GARD:0017269,GARD:0022524,GARD:0018818,GARD:0010785,Rare neurologic disease +GARD:0017269,GARD:0022531,GARD:0018818,GARD:0006011,Rare genetic disease +GARD:0017269,GARD:0022524,GARD:0018818,GARD:0010786,Rare neurologic disease +GARD:0017269,GARD:0022513,GARD:0018818,GARD:0010783,Rare developmental defect during embryogenesis +GARD:0017269,GARD:0022513,GARD:0018818,GARD:0006011,Rare developmental defect during embryogenesis +GARD:0017269,GARD:0022524,GARD:0018818,GARD:0006011,Rare neurologic disease +GARD:0017269,GARD:0022513,GARD:0018818,GARD:0010785,Rare developmental defect during embryogenesis +GARD:0017269,GARD:0022513,GARD:0018818,GARD:0010784,Rare developmental defect during embryogenesis +GARD:0017270,GARD:0022513,GARD:0010190,,Rare developmental defect during embryogenesis +GARD:0017270,GARD:0022531,GARD:0010190,,Rare genetic disease +GARD:0017270,GARD:0022524,GARD:0010190,,Rare neurologic disease +GARD:0017271,GARD:0022524,GARD:0010190,,Rare neurologic disease +GARD:0017271,GARD:0022513,GARD:0010190,,Rare developmental defect during embryogenesis +GARD:0017271,GARD:0022531,GARD:0010190,,Rare genetic disease +GARD:0017272,GARD:0022531,GARD:0006682,,Rare genetic disease +GARD:0017272,GARD:0022524,GARD:0006682,,Rare neurologic disease +GARD:0017272,GARD:0022513,GARD:0006682,,Rare developmental defect during embryogenesis +GARD:0017273,GARD:0022524,GARD:0021268,GARD:0016425,Rare neurologic disease +GARD:0017273,GARD:0022531,GARD:0021268,GARD:0015733,Rare genetic disease +GARD:0017273,GARD:0022531,GARD:0021040,GARD:0016425,Rare genetic disease +GARD:0017273,GARD:0022524,GARD:0021268,GARD:0016113,Rare neurologic disease +GARD:0017273,GARD:0022524,GARD:0019485,GARD:0016425,Rare neurologic disease +GARD:0017273,GARD:0022531,GARD:0021040,GARD:0018396,Rare genetic disease +GARD:0017273,GARD:0022524,GARD:0019485,GARD:0015733,Rare neurologic disease +GARD:0017273,GARD:0022531,GARD:0021268,GARD:0016427,Rare genetic disease +GARD:0017273,GARD:0022524,GARD:0019485,GARD:0016113,Rare neurologic disease +GARD:0017273,GARD:0022524,GARD:0019485,GARD:0018398,Rare neurologic disease +GARD:0017273,GARD:0022524,GARD:0021268,GARD:0015540,Rare neurologic disease +GARD:0017273,GARD:0022524,GARD:0019485,GARD:0015540,Rare neurologic disease +GARD:0017273,GARD:0022531,GARD:0021040,GARD:0009874,Rare genetic disease +GARD:0017273,GARD:0022524,GARD:0019485,GARD:0016427,Rare neurologic disease +GARD:0017273,GARD:0022531,GARD:0021268,GARD:0016425,Rare genetic disease +GARD:0017273,GARD:0022531,GARD:0021040,GARD:0018398,Rare genetic disease +GARD:0017273,GARD:0022524,GARD:0021268,GARD:0009874,Rare neurologic disease +GARD:0017273,GARD:0022531,GARD:0021040,GARD:0016427,Rare genetic disease +GARD:0017273,GARD:0022524,GARD:0021268,GARD:0016427,Rare neurologic disease +GARD:0017273,GARD:0022524,GARD:0021268,GARD:0018398,Rare neurologic disease +GARD:0017273,GARD:0022524,GARD:0019485,GARD:0009874,Rare neurologic disease +GARD:0017273,GARD:0022531,GARD:0021268,GARD:0009874,Rare genetic disease +GARD:0017273,GARD:0022531,GARD:0021040,GARD:0015733,Rare genetic disease +GARD:0017273,GARD:0022524,GARD:0021268,GARD:0015733,Rare neurologic disease +GARD:0017273,GARD:0022531,GARD:0021268,GARD:0018396,Rare genetic disease +GARD:0017273,GARD:0022531,GARD:0021268,GARD:0018397,Rare genetic disease +GARD:0017273,GARD:0022531,GARD:0021268,GARD:0018398,Rare genetic disease +GARD:0017273,GARD:0022524,GARD:0019485,GARD:0018397,Rare neurologic disease +GARD:0017273,GARD:0022531,GARD:0021268,GARD:0015540,Rare genetic disease +GARD:0017273,GARD:0022524,GARD:0021268,GARD:0018397,Rare neurologic disease +GARD:0017273,GARD:0022531,GARD:0021268,GARD:0016113,Rare genetic disease +GARD:0017273,GARD:0022531,GARD:0021040,GARD:0018397,Rare genetic disease +GARD:0017273,GARD:0022524,GARD:0019485,GARD:0018396,Rare neurologic disease +GARD:0017273,GARD:0022531,GARD:0021040,GARD:0015540,Rare genetic disease +GARD:0017273,GARD:0022531,GARD:0021040,GARD:0016113,Rare genetic disease +GARD:0017273,GARD:0022524,GARD:0021268,GARD:0018396,Rare neurologic disease +GARD:0017274,GARD:0022516,GARD:0021042,GARD:0017789,Rare gastroenterologic disease +GARD:0017274,GARD:0022535,GARD:0021042,GARD:0017789,Rare neoplastic disease +GARD:0017275,GARD:0022535,GARD:0021044,,Rare neoplastic disease +GARD:0017275,GARD:0022521,GARD:0021044,,Rare endocrine disease +GARD:0017275,GARD:0022531,GARD:0021044,,Rare genetic disease +GARD:0017276,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017276,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0017276,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0017276,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018410,Rare genetic disease +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018402,Rare genetic disease +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018405,Rare genetic disease +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018414,Rare genetic disease +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018408,Rare infertility +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018407,Rare genetic disease +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018402,Rare infertility +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018399,Rare genetic disease +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018411,Rare infertility +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018400,Rare infertility +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018404,Rare genetic disease +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018411,Rare genetic disease +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018405,Rare infertility +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018407,Rare infertility +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018406,Rare infertility +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018399,Rare infertility +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018412,Rare genetic disease +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018401,Rare infertility +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018409,Rare infertility +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018406,Rare genetic disease +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018413,Rare infertility +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018403,Rare genetic disease +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018413,Rare genetic disease +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018409,Rare genetic disease +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018408,Rare genetic disease +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018403,Rare infertility +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018412,Rare infertility +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018410,Rare infertility +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018400,Rare genetic disease +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018414,Rare infertility +GARD:0017277,GARD:0022529,GARD:0021676,GARD:0018404,Rare infertility +GARD:0017277,GARD:0022531,GARD:0021676,GARD:0018401,Rare genetic disease +GARD:0017278,GARD:0022521,GARD:0019799,,Rare endocrine disease +GARD:0017278,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0017278,GARD:0022531,GARD:0020314,,Rare genetic disease +GARD:0017278,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0017279,GARD:0022506,GARD:0022506,,Rare hepatic disease +GARD:0017279,GARD:0022531,GARD:0020004,,Rare genetic disease +GARD:0017280,GARD:0022531,GARD:0020830,,Rare genetic disease +GARD:0017280,GARD:0022513,GARD:0020830,,Rare developmental defect during embryogenesis +GARD:0017281,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017281,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017281,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0017281,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017281,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0017282,GARD:0022524,GARD:0020454,,Rare neurologic disease +GARD:0017282,GARD:0022531,GARD:0020454,,Rare genetic disease +GARD:0017283,GARD:0022531,GARD:0020067,,Rare genetic disease +GARD:0017283,GARD:0022521,GARD:0020067,,Rare endocrine disease +GARD:0017283,GARD:0022513,GARD:0020067,,Rare developmental defect during embryogenesis +GARD:0017284,GARD:0022513,GARD:0020067,,Rare developmental defect during embryogenesis +GARD:0017284,GARD:0022531,GARD:0020067,,Rare genetic disease +GARD:0017284,GARD:0022521,GARD:0020067,,Rare endocrine disease +GARD:0017285,GARD:0022513,GARD:0018983,,Rare developmental defect during embryogenesis +GARD:0017285,GARD:0022531,GARD:0018983,,Rare genetic disease +GARD:0017285,GARD:0022521,GARD:0018983,,Rare endocrine disease +GARD:0017286,GARD:0022531,GARD:0018983,,Rare genetic disease +GARD:0017286,GARD:0022513,GARD:0018983,,Rare developmental defect during embryogenesis +GARD:0017286,GARD:0022521,GARD:0018983,,Rare endocrine disease +GARD:0017287,GARD:0022531,GARD:0020327,,Rare genetic disease +GARD:0017287,GARD:0022523,GARD:0022523,,Rare immune disease +GARD:0017288,GARD:0022516,GARD:0008689,,Rare gastroenterologic disease +GARD:0017288,GARD:0022536,GARD:0021406,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017288,GARD:0022531,GARD:0021406,,Rare genetic disease +GARD:0017288,GARD:0022523,GARD:0021406,,Rare immune disease +GARD:0017289,GARD:0022513,GARD:0006665,,Rare developmental defect during embryogenesis +GARD:0017289,GARD:0022521,GARD:0006665,,Rare endocrine disease +GARD:0017289,GARD:0022524,GARD:0006665,,Rare neurologic disease +GARD:0017289,GARD:0022531,GARD:0006665,,Rare genetic disease +GARD:0017290,GARD:0022524,GARD:0020978,GARD:0004877,Rare neurologic disease +GARD:0017290,GARD:0022531,GARD:0020978,GARD:0004877,Rare genetic disease +GARD:0017290,GARD:0022513,GARD:0020978,GARD:0004877,Rare developmental defect during embryogenesis +GARD:0017291,GARD:0022531,GARD:0004265,,Rare genetic disease +GARD:0017291,GARD:0022524,GARD:0004265,,Rare neurologic disease +GARD:0017291,GARD:0022520,GARD:0004265,,Rare ophthalmic disorder +GARD:0017292,GARD:0022520,GARD:0004265,,Rare ophthalmic disorder +GARD:0017292,GARD:0022524,GARD:0004265,,Rare neurologic disease +GARD:0017292,GARD:0022531,GARD:0004265,,Rare genetic disease +GARD:0017293,GARD:0022524,GARD:0012300,,Rare neurologic disease +GARD:0017293,GARD:0022531,GARD:0012300,,Rare genetic disease +GARD:0017294,GARD:0022531,GARD:0012300,,Rare genetic disease +GARD:0017294,GARD:0022524,GARD:0012300,,Rare neurologic disease +GARD:0017295,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017295,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017295,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017295,GARD:0022531,GARD:0010423,,Rare genetic disease +GARD:0017295,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0017295,GARD:0022508,GARD:0010423,,Rare inborn errors of metabolism +GARD:0017295,GARD:0022524,GARD:0010423,,Rare neurologic disease +GARD:0017295,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017295,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0017296,GARD:0022531,GARD:0021955,,Rare genetic disease +GARD:0017296,GARD:0022524,GARD:0019600,,Rare neurologic disease +GARD:0017296,GARD:0022524,GARD:0021955,,Rare neurologic disease +GARD:0017296,GARD:0022531,GARD:0019600,,Rare genetic disease +GARD:0017297,GARD:0022522,GARD:0018883,,Rare hematologic disease +GARD:0017297,GARD:0022531,GARD:0021934,,Rare genetic disease +GARD:0017297,GARD:0022536,GARD:0018883,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017298,GARD:0022531,GARD:0020269,,Rare genetic disease +GARD:0017298,GARD:0022510,GARD:0019003,,Rare skin disease +GARD:0017299,GARD:0022513,GARD:0020041,,Rare developmental defect during embryogenesis +GARD:0017299,GARD:0022531,GARD:0020041,,Rare genetic disease +GARD:0017299,GARD:0022524,GARD:0020041,,Rare neurologic disease +GARD:0017300,GARD:0022531,GARD:0021574,GARD:0015823,Rare genetic disease +GARD:0017300,GARD:0022531,GARD:0020317,GARD:0015823,Rare genetic disease +GARD:0017300,GARD:0022513,GARD:0019980,GARD:0015823,Rare developmental defect during embryogenesis +GARD:0017300,GARD:0022511,GARD:0019980,GARD:0015823,Rare bone disease +GARD:0017300,GARD:0022531,GARD:0021574,GARD:0015030,Rare genetic disease +GARD:0017300,GARD:0022507,GARD:0019980,GARD:0015030,Rare maxillo-facial surgical disease +GARD:0017300,GARD:0022531,GARD:0019980,GARD:0015030,Rare genetic disease +GARD:0017300,GARD:0022511,GARD:0019980,GARD:0015030,Rare bone disease +GARD:0017300,GARD:0022513,GARD:0021574,GARD:0015030,Rare developmental defect during embryogenesis +GARD:0017300,GARD:0022528,GARD:0019980,GARD:0015030,Rare otorhinolaryngologic disease +GARD:0017300,GARD:0022511,GARD:0021574,GARD:0015823,Rare bone disease +GARD:0017300,GARD:0022531,GARD:0019980,GARD:0015823,Rare genetic disease +GARD:0017300,GARD:0022528,GARD:0019980,GARD:0015823,Rare otorhinolaryngologic disease +GARD:0017300,GARD:0022507,GARD:0019980,GARD:0015823,Rare maxillo-facial surgical disease +GARD:0017300,GARD:0022521,GARD:0019800,GARD:0015030,Rare endocrine disease +GARD:0017300,GARD:0022511,GARD:0021574,GARD:0015030,Rare bone disease +GARD:0017300,GARD:0022521,GARD:0019800,GARD:0015823,Rare endocrine disease +GARD:0017300,GARD:0022513,GARD:0019980,GARD:0015030,Rare developmental defect during embryogenesis +GARD:0017300,GARD:0022531,GARD:0020317,GARD:0015030,Rare genetic disease +GARD:0017300,GARD:0022513,GARD:0021574,GARD:0015823,Rare developmental defect during embryogenesis +GARD:0017301,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017301,GARD:0022521,GARD:0020233,,Rare endocrine disease +GARD:0017301,GARD:0022524,GARD:0021965,,Rare neurologic disease +GARD:0017301,GARD:0022531,GARD:0020233,,Rare genetic disease +GARD:0017301,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017301,GARD:0022531,GARD:0021965,,Rare genetic disease +GARD:0017301,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017301,GARD:0022529,GARD:0020233,,Rare infertility +GARD:0017302,GARD:0022531,GARD:0021109,,Rare genetic disease +GARD:0017302,GARD:0022510,GARD:0021109,,Rare skin disease +GARD:0017303,GARD:0022513,GARD:0021106,GARD:0015187,Rare developmental defect during embryogenesis +GARD:0017303,GARD:0022513,GARD:0021106,GARD:0015393,Rare developmental defect during embryogenesis +GARD:0017303,GARD:0022510,GARD:0021106,GARD:0015187,Rare skin disease +GARD:0017303,GARD:0022531,GARD:0021106,GARD:0015187,Rare genetic disease +GARD:0017303,GARD:0022520,GARD:0021106,GARD:0015187,Rare ophthalmic disorder +GARD:0017303,GARD:0022531,GARD:0021106,GARD:0015393,Rare genetic disease +GARD:0017303,GARD:0022520,GARD:0021106,GARD:0015393,Rare ophthalmic disorder +GARD:0017303,GARD:0022510,GARD:0021106,GARD:0015393,Rare skin disease +GARD:0017304,GARD:0022531,GARD:0021107,,Rare genetic disease +GARD:0017304,GARD:0022510,GARD:0021107,,Rare skin disease +GARD:0017305,GARD:0022510,GARD:0021107,,Rare skin disease +GARD:0017305,GARD:0022531,GARD:0021107,,Rare genetic disease +GARD:0017306,GARD:0022510,GARD:0021104,,Rare skin disease +GARD:0017306,GARD:0022510,GARD:0021292,,Rare skin disease +GARD:0017306,GARD:0022531,GARD:0021104,,Rare genetic disease +GARD:0017306,GARD:0022531,GARD:0021292,,Rare genetic disease +GARD:0017307,GARD:0022524,GARD:0021085,,Rare neurologic disease +GARD:0017307,GARD:0022531,GARD:0021085,,Rare genetic disease +GARD:0017307,GARD:0022531,GARD:0021285,,Rare genetic disease +GARD:0017307,GARD:0022524,GARD:0021267,,Rare neurologic disease +GARD:0017308,GARD:0022513,GARD:0021609,,Rare developmental defect during embryogenesis +GARD:0017308,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0017308,GARD:0022519,GARD:0021607,,Rare surgical cardiac disease +GARD:0017308,GARD:0022531,GARD:0021609,,Rare genetic disease +GARD:0017308,GARD:0022531,GARD:0019905,,Rare genetic disease +GARD:0017308,GARD:0022513,GARD:0021607,,Rare developmental defect during embryogenesis +GARD:0017308,GARD:0022513,GARD:0019905,,Rare developmental defect during embryogenesis +GARD:0017308,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0017308,GARD:0022531,GARD:0021607,,Rare genetic disease +GARD:0017308,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0017308,GARD:0022508,GARD:0021337,,Rare inborn errors of metabolism +GARD:0017308,GARD:0022531,GARD:0021337,,Rare genetic disease +GARD:0017309,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0017309,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0017309,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0017309,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0017309,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0017309,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0017310,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017310,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017310,GARD:0022513,GARD:0020828,,Rare developmental defect during embryogenesis +GARD:0017310,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017310,GARD:0022531,GARD:0020828,,Rare genetic disease +GARD:0017311,GARD:0022513,GARD:0020814,,Rare developmental defect during embryogenesis +GARD:0017311,GARD:0022531,GARD:0020814,,Rare genetic disease +GARD:0017311,GARD:0022513,GARD:0017838,,Rare developmental defect during embryogenesis +GARD:0017311,GARD:0022524,GARD:0017838,,Rare neurologic disease +GARD:0017311,GARD:0022531,GARD:0017838,,Rare genetic disease +GARD:0017312,GARD:0022524,GARD:0019416,,Rare neurologic disease +GARD:0017312,GARD:0022531,GARD:0019416,,Rare genetic disease +GARD:0017312,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017312,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017313,GARD:0022524,GARD:0021719,,Rare neurologic disease +GARD:0017313,GARD:0022531,GARD:0021719,,Rare genetic disease +GARD:0017314,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017314,GARD:0022524,GARD:0018718,,Rare neurologic disease +GARD:0017314,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017314,GARD:0022531,GARD:0018718,,Rare genetic disease +GARD:0017315,GARD:0022524,GARD:0010977,,Rare neurologic disease +GARD:0017315,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017315,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017315,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017315,GARD:0022513,GARD:0010977,,Rare developmental defect during embryogenesis +GARD:0017315,GARD:0022531,GARD:0010977,,Rare genetic disease +GARD:0017316,GARD:0022531,GARD:0002807,,Rare genetic disease +GARD:0017316,GARD:0022508,GARD:0002807,,Rare inborn errors of metabolism +GARD:0017317,GARD:0022531,GARD:0002807,,Rare genetic disease +GARD:0017317,GARD:0022508,GARD:0002807,,Rare inborn errors of metabolism +GARD:0017318,GARD:0022527,GARD:0016535,,Rare circulatory system disease +GARD:0017318,GARD:0022513,GARD:0016535,,Rare developmental defect during embryogenesis +GARD:0017318,GARD:0022520,GARD:0016535,,Rare ophthalmic disorder +GARD:0017318,GARD:0022525,GARD:0016535,,Rare systemic or rheumatologic disease +GARD:0017318,GARD:0022511,GARD:0016535,,Rare bone disease +GARD:0017318,GARD:0022531,GARD:0016535,,Rare genetic disease +GARD:0017318,GARD:0022518,GARD:0016535,,Rare surgical thoracic disease +GARD:0017319,GARD:0022511,GARD:0021133,GARD:0018636,Rare bone disease +GARD:0017319,GARD:0022513,GARD:0021133,GARD:0018636,Rare developmental defect during embryogenesis +GARD:0017319,GARD:0022521,GARD:0021133,GARD:0018415,Rare endocrine disease +GARD:0017319,GARD:0022513,GARD:0021133,GARD:0018415,Rare developmental defect during embryogenesis +GARD:0017319,GARD:0022521,GARD:0021133,GARD:0018636,Rare endocrine disease +GARD:0017319,GARD:0022531,GARD:0021133,GARD:0018636,Rare genetic disease +GARD:0017319,GARD:0022511,GARD:0021133,GARD:0018415,Rare bone disease +GARD:0017319,GARD:0022531,GARD:0021133,GARD:0018415,Rare genetic disease +GARD:0017320,GARD:0022531,GARD:0006735,GARD:0018416,Rare genetic disease +GARD:0017320,GARD:0022521,GARD:0006735,GARD:0018416,Rare endocrine disease +GARD:0017320,GARD:0022512,GARD:0006735,GARD:0018416,Rare renal disease +GARD:0017320,GARD:0022513,GARD:0006735,GARD:0018416,Rare developmental defect during embryogenesis +GARD:0017320,GARD:0022531,GARD:0006735,GARD:0018417,Rare genetic disease +GARD:0017320,GARD:0022521,GARD:0006735,GARD:0018417,Rare endocrine disease +GARD:0017320,GARD:0022511,GARD:0006735,GARD:0018416,Rare bone disease +GARD:0017320,GARD:0022512,GARD:0006735,GARD:0018417,Rare renal disease +GARD:0017320,GARD:0022513,GARD:0006735,GARD:0018417,Rare developmental defect during embryogenesis +GARD:0017320,GARD:0022511,GARD:0006735,GARD:0018417,Rare bone disease +GARD:0017321,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017321,GARD:0022531,GARD:0018953,,Rare genetic disease +GARD:0017321,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017321,GARD:0022508,GARD:0018953,,Rare inborn errors of metabolism +GARD:0017322,GARD:0022531,GARD:0018971,,Rare genetic disease +GARD:0017322,GARD:0022508,GARD:0018971,,Rare inborn errors of metabolism +GARD:0017323,GARD:0022532,GARD:0020253,GARD:0018418,Rare urogenital disease +GARD:0017323,GARD:0022512,GARD:0019217,GARD:0018423,Rare renal disease +GARD:0017323,GARD:0022536,GARD:0019217,GARD:0018421,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022513,GARD:0020253,GARD:0018424,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022536,GARD:0020253,GARD:0018421,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022513,GARD:0019217,GARD:0018418,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022513,GARD:0020253,GARD:0018423,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022531,GARD:0020009,GARD:0018425,Rare genetic disease +GARD:0017323,GARD:0022513,GARD:0020253,GARD:0018425,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022531,GARD:0020009,GARD:0018424,Rare genetic disease +GARD:0017323,GARD:0022513,GARD:0020253,GARD:0018422,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022532,GARD:0020253,GARD:0018425,Rare urogenital disease +GARD:0017323,GARD:0022513,GARD:0019217,GARD:0018422,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022536,GARD:0020253,GARD:0018423,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022513,GARD:0019217,GARD:0018419,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022532,GARD:0020253,GARD:0018422,Rare urogenital disease +GARD:0017323,GARD:0022513,GARD:0020253,GARD:0018421,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022536,GARD:0019217,GARD:0018420,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022512,GARD:0019217,GARD:0018420,Rare renal disease +GARD:0017323,GARD:0022531,GARD:0020009,GARD:0018423,Rare genetic disease +GARD:0017323,GARD:0022512,GARD:0019217,GARD:0018424,Rare renal disease +GARD:0017323,GARD:0022536,GARD:0020253,GARD:0018418,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022536,GARD:0019217,GARD:0018424,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022536,GARD:0019217,GARD:0018423,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022536,GARD:0020253,GARD:0018420,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022532,GARD:0020253,GARD:0018424,Rare urogenital disease +GARD:0017323,GARD:0022536,GARD:0020253,GARD:0018419,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022513,GARD:0019217,GARD:0018420,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022512,GARD:0019217,GARD:0018418,Rare renal disease +GARD:0017323,GARD:0022532,GARD:0020253,GARD:0018421,Rare urogenital disease +GARD:0017323,GARD:0022532,GARD:0020253,GARD:0018423,Rare urogenital disease +GARD:0017323,GARD:0022536,GARD:0020253,GARD:0018422,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022531,GARD:0020009,GARD:0018419,Rare genetic disease +GARD:0017323,GARD:0022531,GARD:0020009,GARD:0018418,Rare genetic disease +GARD:0017323,GARD:0022513,GARD:0019217,GARD:0018425,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022536,GARD:0019217,GARD:0018422,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022536,GARD:0020253,GARD:0018424,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022531,GARD:0020009,GARD:0018421,Rare genetic disease +GARD:0017323,GARD:0022531,GARD:0020009,GARD:0018420,Rare genetic disease +GARD:0017323,GARD:0022536,GARD:0020253,GARD:0018425,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022512,GARD:0019217,GARD:0018419,Rare renal disease +GARD:0017323,GARD:0022513,GARD:0019217,GARD:0018424,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022513,GARD:0020253,GARD:0018420,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022513,GARD:0020253,GARD:0018419,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022513,GARD:0019217,GARD:0018421,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022536,GARD:0019217,GARD:0018418,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022532,GARD:0020253,GARD:0018420,Rare urogenital disease +GARD:0017323,GARD:0022512,GARD:0019217,GARD:0018421,Rare renal disease +GARD:0017323,GARD:0022512,GARD:0019217,GARD:0018425,Rare renal disease +GARD:0017323,GARD:0022513,GARD:0019217,GARD:0018423,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022532,GARD:0020253,GARD:0018419,Rare urogenital disease +GARD:0017323,GARD:0022512,GARD:0019217,GARD:0018422,Rare renal disease +GARD:0017323,GARD:0022513,GARD:0020253,GARD:0018418,Rare developmental defect during embryogenesis +GARD:0017323,GARD:0022536,GARD:0019217,GARD:0018419,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017323,GARD:0022531,GARD:0020009,GARD:0018422,Rare genetic disease +GARD:0017323,GARD:0022536,GARD:0019217,GARD:0018425,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017324,GARD:0022531,GARD:0020526,,Rare genetic disease +GARD:0017324,GARD:0022515,GARD:0020526,,Rare cardiac disease +GARD:0017324,GARD:0022524,GARD:0020363,,Rare neurologic disease +GARD:0017324,GARD:0022531,GARD:0020363,,Rare genetic disease +GARD:0017324,GARD:0022531,GARD:0020430,,Rare genetic disease +GARD:0017324,GARD:0022536,GARD:0020526,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017325,GARD:0022524,GARD:0020363,,Rare neurologic disease +GARD:0017325,GARD:0022531,GARD:0020363,,Rare genetic disease +GARD:0017325,GARD:0022531,GARD:0020395,,Rare genetic disease +GARD:0017326,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017326,GARD:0022520,GARD:0019510,,Rare ophthalmic disorder +GARD:0017326,GARD:0022531,GARD:0019510,,Rare genetic disease +GARD:0017326,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017327,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0017327,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0017328,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017328,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017328,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017328,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017328,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017328,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017329,GARD:0022531,GARD:0021106,GARD:0018426,Rare genetic disease +GARD:0017329,GARD:0022510,GARD:0021106,GARD:0018426,Rare skin disease +GARD:0017329,GARD:0022510,GARD:0021106,GARD:0018427,Rare skin disease +GARD:0017329,GARD:0022531,GARD:0020685,GARD:0018426,Rare genetic disease +GARD:0017329,GARD:0022531,GARD:0020685,GARD:0018427,Rare genetic disease +GARD:0017329,GARD:0022513,GARD:0021106,GARD:0018427,Rare developmental defect during embryogenesis +GARD:0017329,GARD:0022520,GARD:0021106,GARD:0018427,Rare ophthalmic disorder +GARD:0017329,GARD:0022513,GARD:0021106,GARD:0018426,Rare developmental defect during embryogenesis +GARD:0017329,GARD:0022531,GARD:0021106,GARD:0018427,Rare genetic disease +GARD:0017329,GARD:0022520,GARD:0021106,GARD:0018426,Rare ophthalmic disorder +GARD:0017330,GARD:0022531,GARD:0010047,,Rare genetic disease +GARD:0017330,GARD:0022508,GARD:0010047,,Rare inborn errors of metabolism +GARD:0017330,GARD:0022522,GARD:0010047,,Rare hematologic disease +GARD:0017331,GARD:0022508,GARD:0010047,,Rare inborn errors of metabolism +GARD:0017331,GARD:0022522,GARD:0010047,,Rare hematologic disease +GARD:0017331,GARD:0022531,GARD:0010047,,Rare genetic disease +GARD:0017332,GARD:0022524,GARD:0007219,,Rare neurologic disease +GARD:0017332,GARD:0022508,GARD:0007219,,Rare inborn errors of metabolism +GARD:0017332,GARD:0022531,GARD:0007219,,Rare genetic disease +GARD:0017333,GARD:0022524,GARD:0007219,,Rare neurologic disease +GARD:0017333,GARD:0022508,GARD:0007219,,Rare inborn errors of metabolism +GARD:0017333,GARD:0022531,GARD:0007219,,Rare genetic disease +GARD:0017334,GARD:0022508,GARD:0007219,,Rare inborn errors of metabolism +GARD:0017334,GARD:0022531,GARD:0007219,,Rare genetic disease +GARD:0017334,GARD:0022524,GARD:0007219,,Rare neurologic disease +GARD:0017335,GARD:0022531,GARD:0003586,,Rare genetic disease +GARD:0017335,GARD:0022536,GARD:0003586,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017335,GARD:0022512,GARD:0003586,,Rare renal disease +GARD:0017335,GARD:0022508,GARD:0003586,,Rare inborn errors of metabolism +GARD:0017336,GARD:0022531,GARD:0017093,,Rare genetic disease +GARD:0017336,GARD:0022511,GARD:0017093,,Rare bone disease +GARD:0017336,GARD:0022513,GARD:0017093,,Rare developmental defect during embryogenesis +GARD:0017337,GARD:0022511,GARD:0019209,,Rare bone disease +GARD:0017337,GARD:0022531,GARD:0017093,,Rare genetic disease +GARD:0017337,GARD:0022531,GARD:0019209,,Rare genetic disease +GARD:0017337,GARD:0022511,GARD:0017093,,Rare bone disease +GARD:0017337,GARD:0022513,GARD:0019209,,Rare developmental defect during embryogenesis +GARD:0017337,GARD:0022513,GARD:0017093,,Rare developmental defect during embryogenesis +GARD:0017338,GARD:0022531,GARD:0022177,,Rare genetic disease +GARD:0017338,GARD:0022520,GARD:0019518,,Rare ophthalmic disorder +GARD:0017339,GARD:0022531,GARD:0019520,,Rare genetic disease +GARD:0017339,GARD:0022520,GARD:0019520,,Rare ophthalmic disorder +GARD:0017340,GARD:0022510,GARD:0000049,,Rare skin disease +GARD:0017340,GARD:0022513,GARD:0000049,,Rare developmental defect during embryogenesis +GARD:0017340,GARD:0022508,GARD:0000049,,Rare inborn errors of metabolism +GARD:0017340,GARD:0022524,GARD:0000049,,Rare neurologic disease +GARD:0017340,GARD:0022534,GARD:0000049,,Rare abdominal surgical disease +GARD:0017340,GARD:0022520,GARD:0000049,,Rare ophthalmic disorder +GARD:0017340,GARD:0022518,GARD:0000049,,Rare surgical thoracic disease +GARD:0017340,GARD:0022531,GARD:0000049,,Rare genetic disease +GARD:0017341,GARD:0022531,GARD:0010892,,Rare genetic disease +GARD:0017341,GARD:0022520,GARD:0010892,,Rare ophthalmic disorder +GARD:0017341,GARD:0022524,GARD:0010892,,Rare neurologic disease +GARD:0017341,GARD:0022513,GARD:0010892,,Rare developmental defect during embryogenesis +GARD:0017342,GARD:0022513,GARD:0010892,,Rare developmental defect during embryogenesis +GARD:0017342,GARD:0022520,GARD:0010892,,Rare ophthalmic disorder +GARD:0017342,GARD:0022531,GARD:0010892,,Rare genetic disease +GARD:0017342,GARD:0022524,GARD:0010892,,Rare neurologic disease +GARD:0017343,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0017343,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0017344,GARD:0022522,GARD:0001999,,Rare hematologic disease +GARD:0017344,GARD:0022531,GARD:0001999,,Rare genetic disease +GARD:0017345,GARD:0022536,GARD:0017129,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017345,GARD:0022531,GARD:0017129,,Rare genetic disease +GARD:0017345,GARD:0022515,GARD:0017129,,Rare cardiac disease +GARD:0017346,GARD:0022536,GARD:0017129,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017346,GARD:0022515,GARD:0017129,,Rare cardiac disease +GARD:0017346,GARD:0022531,GARD:0017129,,Rare genetic disease +GARD:0017347,GARD:0022515,GARD:0017129,,Rare cardiac disease +GARD:0017347,GARD:0022536,GARD:0017129,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017347,GARD:0022531,GARD:0017129,,Rare genetic disease +GARD:0017348,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0017348,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0017348,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0017349,GARD:0022531,GARD:0022178,,Rare genetic disease +GARD:0017349,GARD:0022520,GARD:0019517,,Rare ophthalmic disorder +GARD:0017350,GARD:0022513,GARD:0020917,,Rare developmental defect during embryogenesis +GARD:0017350,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017350,GARD:0022531,GARD:0020917,,Rare genetic disease +GARD:0017350,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017351,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017351,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017351,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017352,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0017352,GARD:0022521,GARD:0022521,,Rare endocrine disease +GARD:0017352,GARD:0022531,GARD:0020011,,Rare genetic disease +GARD:0017352,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0017353,GARD:0022531,GARD:0021514,,Rare genetic disease +GARD:0017353,GARD:0022531,GARD:0019274,,Rare genetic disease +GARD:0017353,GARD:0022521,GARD:0019274,,Rare endocrine disease +GARD:0017353,GARD:0022523,GARD:0021514,,Rare immune disease +GARD:0017354,GARD:0022527,GARD:0021914,,Rare circulatory system disease +GARD:0017354,GARD:0022513,GARD:0021914,,Rare developmental defect during embryogenesis +GARD:0017354,GARD:0022531,GARD:0021914,,Rare genetic disease +GARD:0017354,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0017354,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0017354,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0017355,GARD:0022523,GARD:0021161,GARD:0018430,Rare immune disease +GARD:0017355,GARD:0022531,GARD:0018991,GARD:0018430,Rare genetic disease +GARD:0017355,GARD:0022524,GARD:0022440,GARD:0018430,Rare neurologic disease +GARD:0017355,GARD:0022531,GARD:0021161,GARD:0018429,Rare genetic disease +GARD:0017355,GARD:0022525,GARD:0021454,GARD:0018429,Rare systemic or rheumatologic disease +GARD:0017355,GARD:0022531,GARD:0020060,GARD:0018429,Rare genetic disease +GARD:0017355,GARD:0022531,GARD:0018991,GARD:0018429,Rare genetic disease +GARD:0017355,GARD:0022523,GARD:0021161,GARD:0018429,Rare immune disease +GARD:0017355,GARD:0022536,GARD:0019849,GARD:0018429,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017355,GARD:0022516,GARD:0019849,GARD:0018430,Rare gastroenterologic disease +GARD:0017355,GARD:0022531,GARD:0022488,GARD:0018429,Rare genetic disease +GARD:0017355,GARD:0022510,GARD:0021162,GARD:0018430,Rare skin disease +GARD:0017355,GARD:0022524,GARD:0022440,GARD:0018429,Rare neurologic disease +GARD:0017355,GARD:0022531,GARD:0021161,GARD:0018430,Rare genetic disease +GARD:0017355,GARD:0022531,GARD:0022440,GARD:0018430,Rare genetic disease +GARD:0017355,GARD:0021079,GARD:0021459,GARD:0018430,Rare systemic or rheumatological disease of childhood +GARD:0017355,GARD:0022531,GARD:0022440,GARD:0018429,Rare genetic disease +GARD:0017355,GARD:0022510,GARD:0018990,GARD:0018429,Rare skin disease +GARD:0017355,GARD:0022516,GARD:0019849,GARD:0018429,Rare gastroenterologic disease +GARD:0017355,GARD:0022510,GARD:0021162,GARD:0018429,Rare skin disease +GARD:0017355,GARD:0022531,GARD:0021018,GARD:0018430,Rare genetic disease +GARD:0017355,GARD:0022531,GARD:0020060,GARD:0018430,Rare genetic disease +GARD:0017355,GARD:0022536,GARD:0019849,GARD:0018430,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017355,GARD:0021079,GARD:0021459,GARD:0018429,Rare systemic or rheumatological disease of childhood +GARD:0017355,GARD:0022531,GARD:0022488,GARD:0018430,Rare genetic disease +GARD:0017355,GARD:0022531,GARD:0021018,GARD:0018429,Rare genetic disease +GARD:0017355,GARD:0022525,GARD:0021454,GARD:0018430,Rare systemic or rheumatologic disease +GARD:0017355,GARD:0022510,GARD:0018990,GARD:0018430,Rare skin disease +GARD:0017356,GARD:0022506,GARD:0019789,GARD:0018431,Rare hepatic disease +GARD:0017356,GARD:0022513,GARD:0019862,GARD:0018432,Rare developmental defect during embryogenesis +GARD:0017356,GARD:0022531,GARD:0019992,GARD:0018431,Rare genetic disease +GARD:0017356,GARD:0022536,GARD:0022061,GARD:0018431,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017356,GARD:0022531,GARD:0019986,GARD:0018432,Rare genetic disease +GARD:0017356,GARD:0022531,GARD:0020005,GARD:0018431,Rare genetic disease +GARD:0017356,GARD:0022512,GARD:0019228,GARD:0018431,Rare renal disease +GARD:0017356,GARD:0022531,GARD:0019992,GARD:0018432,Rare genetic disease +GARD:0017356,GARD:0022531,GARD:0020005,GARD:0018432,Rare genetic disease +GARD:0017356,GARD:0022531,GARD:0019862,GARD:0018432,Rare genetic disease +GARD:0017356,GARD:0022531,GARD:0019862,GARD:0018431,Rare genetic disease +GARD:0017356,GARD:0022536,GARD:0022061,GARD:0018432,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017356,GARD:0022531,GARD:0019986,GARD:0018431,Rare genetic disease +GARD:0017356,GARD:0022534,GARD:0019862,GARD:0018431,Rare abdominal surgical disease +GARD:0017356,GARD:0022534,GARD:0019862,GARD:0018432,Rare abdominal surgical disease +GARD:0017356,GARD:0022531,GARD:0019228,GARD:0018432,Rare genetic disease +GARD:0017356,GARD:0022506,GARD:0019789,GARD:0018432,Rare hepatic disease +GARD:0017356,GARD:0022513,GARD:0019862,GARD:0018431,Rare developmental defect during embryogenesis +GARD:0017356,GARD:0022531,GARD:0019228,GARD:0018431,Rare genetic disease +GARD:0017356,GARD:0022512,GARD:0019228,GARD:0018432,Rare renal disease +GARD:0017357,GARD:0022513,GARD:0005081,,Rare developmental defect during embryogenesis +GARD:0017357,GARD:0022511,GARD:0005081,,Rare bone disease +GARD:0017357,GARD:0022531,GARD:0005081,,Rare genetic disease +GARD:0017358,GARD:0022513,GARD:0005087,,Rare developmental defect during embryogenesis +GARD:0017358,GARD:0022511,GARD:0005087,,Rare bone disease +GARD:0017358,GARD:0022531,GARD:0005087,,Rare genetic disease +GARD:0017359,GARD:0022511,GARD:0005087,,Rare bone disease +GARD:0017359,GARD:0022531,GARD:0005087,,Rare genetic disease +GARD:0017359,GARD:0022513,GARD:0005087,,Rare developmental defect during embryogenesis +GARD:0017360,GARD:0022511,GARD:0005087,,Rare bone disease +GARD:0017360,GARD:0022513,GARD:0005087,,Rare developmental defect during embryogenesis +GARD:0017360,GARD:0022531,GARD:0005087,,Rare genetic disease +GARD:0017361,GARD:0022531,GARD:0002083,,Rare genetic disease +GARD:0017361,GARD:0022525,GARD:0002083,,Rare systemic or rheumatologic disease +GARD:0017361,GARD:0022510,GARD:0002083,,Rare skin disease +GARD:0017361,GARD:0022513,GARD:0002083,,Rare developmental defect during embryogenesis +GARD:0017362,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0017362,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017362,GARD:0022531,GARD:0019905,,Rare genetic disease +GARD:0017362,GARD:0022531,GARD:0022459,,Rare genetic disease +GARD:0017362,GARD:0022513,GARD:0019905,,Rare developmental defect during embryogenesis +GARD:0017362,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017362,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017363,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0017363,GARD:0022531,GARD:0020005,,Rare genetic disease +GARD:0017364,GARD:0022531,GARD:0019453,,Rare genetic disease +GARD:0017364,GARD:0022531,GARD:0019452,,Rare genetic disease +GARD:0017364,GARD:0022522,GARD:0019453,,Rare hematologic disease +GARD:0017364,GARD:0022522,GARD:0019452,,Rare hematologic disease +GARD:0017365,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0017365,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0017365,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017365,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017366,GARD:0022522,GARD:0020131,,Rare hematologic disease +GARD:0017366,GARD:0022535,GARD:0020131,,Rare neoplastic disease +GARD:0017366,GARD:0022536,GARD:0020131,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017367,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017367,GARD:0022510,GARD:0022387,,Rare skin disease +GARD:0017367,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017367,GARD:0022531,GARD:0022387,,Rare genetic disease +GARD:0017367,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017367,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0017367,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0017367,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017368,GARD:0021079,GARD:0021986,,Rare systemic or rheumatological disease of childhood +GARD:0017368,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0017368,GARD:0022525,GARD:0021957,,Rare systemic or rheumatologic disease +GARD:0017368,GARD:0022531,GARD:0021957,,Rare genetic disease +GARD:0017368,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017369,GARD:0022531,GARD:0021161,,Rare genetic disease +GARD:0017369,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0017369,GARD:0021079,GARD:0021456,,Rare systemic or rheumatological disease of childhood +GARD:0017369,GARD:0022525,GARD:0021456,,Rare systemic or rheumatologic disease +GARD:0017369,GARD:0022510,GARD:0019019,,Rare skin disease +GARD:0017369,GARD:0022523,GARD:0021161,,Rare immune disease +GARD:0017369,GARD:0021079,GARD:0021082,,Rare systemic or rheumatological disease of childhood +GARD:0017369,GARD:0022531,GARD:0021456,,Rare genetic disease +GARD:0017370,GARD:0022531,GARD:0020313,GARD:0018433,Rare genetic disease +GARD:0017370,GARD:0022521,GARD:0020218,GARD:0018433,Rare endocrine disease +GARD:0017371,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0017371,GARD:0022531,GARD:0021018,,Rare genetic disease +GARD:0017372,GARD:0022536,GARD:0004553,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017372,GARD:0022512,GARD:0004553,,Rare renal disease +GARD:0017372,GARD:0022531,GARD:0004553,,Rare genetic disease +GARD:0017372,GARD:0022527,GARD:0004553,,Rare circulatory system disease +GARD:0017373,GARD:0022527,GARD:0004553,,Rare circulatory system disease +GARD:0017373,GARD:0022536,GARD:0004553,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017373,GARD:0022531,GARD:0004553,,Rare genetic disease +GARD:0017373,GARD:0022512,GARD:0004553,,Rare renal disease +GARD:0017374,GARD:0022536,GARD:0022061,GARD:0018434,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017374,GARD:0022521,GARD:0018893,GARD:0018434,Rare endocrine disease +GARD:0017374,GARD:0022512,GARD:0019229,GARD:0018435,Rare renal disease +GARD:0017374,GARD:0022531,GARD:0019229,GARD:0018434,Rare genetic disease +GARD:0017374,GARD:0022512,GARD:0019229,GARD:0018434,Rare renal disease +GARD:0017374,GARD:0022531,GARD:0020315,GARD:0018435,Rare genetic disease +GARD:0017374,GARD:0022531,GARD:0020315,GARD:0018434,Rare genetic disease +GARD:0017374,GARD:0022536,GARD:0022061,GARD:0018435,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017374,GARD:0022521,GARD:0018893,GARD:0018435,Rare endocrine disease +GARD:0017374,GARD:0022531,GARD:0019229,GARD:0018435,Rare genetic disease +GARD:0017375,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017375,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0017375,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0017375,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017375,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0017375,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017375,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0017375,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0017376,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0017376,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0017376,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0017376,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0017377,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0017377,GARD:0022536,GARD:0020922,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017377,GARD:0022517,GARD:0020922,,Rare respiratory disease +GARD:0017377,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0017377,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017377,GARD:0022531,GARD:0002152,,Rare genetic disease +GARD:0017377,GARD:0022531,GARD:0020944,,Rare genetic disease +GARD:0017377,GARD:0022510,GARD:0002152,,Rare skin disease +GARD:0017377,GARD:0022513,GARD:0002152,,Rare developmental defect during embryogenesis +GARD:0017378,GARD:0022531,GARD:0021431,,Rare genetic disease +GARD:0017378,GARD:0022524,GARD:0021431,,Rare neurologic disease +GARD:0017378,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017378,GARD:0022508,GARD:0018884,,Rare inborn errors of metabolism +GARD:0017378,GARD:0022524,GARD:0021430,,Rare neurologic disease +GARD:0017378,GARD:0022531,GARD:0021430,,Rare genetic disease +GARD:0017378,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017378,GARD:0022531,GARD:0018884,,Rare genetic disease +GARD:0017379,GARD:0022513,GARD:0019997,GARD:0018436,Rare developmental defect during embryogenesis +GARD:0017379,GARD:0022524,GARD:0019482,GARD:0018437,Rare neurologic disease +GARD:0017379,GARD:0022524,GARD:0019482,GARD:0018436,Rare neurologic disease +GARD:0017379,GARD:0022531,GARD:0019997,GARD:0018436,Rare genetic disease +GARD:0017379,GARD:0022531,GARD:0019997,GARD:0018437,Rare genetic disease +GARD:0017379,GARD:0022513,GARD:0019482,GARD:0018436,Rare developmental defect during embryogenesis +GARD:0017379,GARD:0022531,GARD:0019482,GARD:0018436,Rare genetic disease +GARD:0017379,GARD:0022513,GARD:0019482,GARD:0018437,Rare developmental defect during embryogenesis +GARD:0017379,GARD:0022507,GARD:0019997,GARD:0018437,Rare maxillo-facial surgical disease +GARD:0017379,GARD:0022531,GARD:0019482,GARD:0018437,Rare genetic disease +GARD:0017379,GARD:0022507,GARD:0019997,GARD:0018436,Rare maxillo-facial surgical disease +GARD:0017379,GARD:0022513,GARD:0019997,GARD:0018437,Rare developmental defect during embryogenesis +GARD:0017380,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0017380,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0017380,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0017381,GARD:0022521,GARD:0020217,GARD:0018438,Rare endocrine disease +GARD:0017381,GARD:0022521,GARD:0020217,GARD:0018439,Rare endocrine disease +GARD:0017381,GARD:0022531,GARD:0020088,GARD:0018438,Rare genetic disease +GARD:0017381,GARD:0022531,GARD:0020088,GARD:0018439,Rare genetic disease +GARD:0017381,GARD:0022524,GARD:0020088,GARD:0018438,Rare neurologic disease +GARD:0017381,GARD:0022524,GARD:0021000,GARD:0018438,Rare neurologic disease +GARD:0017381,GARD:0022524,GARD:0021000,GARD:0018439,Rare neurologic disease +GARD:0017381,GARD:0022531,GARD:0020312,GARD:0018439,Rare genetic disease +GARD:0017381,GARD:0022531,GARD:0021000,GARD:0018438,Rare genetic disease +GARD:0017381,GARD:0022531,GARD:0020312,GARD:0018438,Rare genetic disease +GARD:0017381,GARD:0022513,GARD:0021000,GARD:0018439,Rare developmental defect during embryogenesis +GARD:0017381,GARD:0022513,GARD:0021000,GARD:0018438,Rare developmental defect during embryogenesis +GARD:0017381,GARD:0022531,GARD:0021000,GARD:0018439,Rare genetic disease +GARD:0017381,GARD:0022524,GARD:0020088,GARD:0018439,Rare neurologic disease +GARD:0017382,GARD:0022524,GARD:0010711,GARD:0018440,Rare neurologic disease +GARD:0017382,GARD:0022531,GARD:0010711,GARD:0018440,Rare genetic disease +GARD:0017383,GARD:0022531,GARD:0021618,,Rare genetic disease +GARD:0017383,GARD:0022524,GARD:0021618,,Rare neurologic disease +GARD:0017384,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0017384,GARD:0022510,GARD:0019449,,Rare skin disease +GARD:0017384,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0017384,GARD:0022531,GARD:0019449,,Rare genetic disease +GARD:0017384,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0017384,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0017384,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0017385,GARD:0022531,GARD:0016537,,Rare genetic disease +GARD:0017385,GARD:0022508,GARD:0016537,,Rare inborn errors of metabolism +GARD:0017385,GARD:0022524,GARD:0016537,,Rare neurologic disease +GARD:0017385,GARD:0022522,GARD:0016537,,Rare hematologic disease +GARD:0017386,GARD:0022520,GARD:0003705,,Rare ophthalmic disorder +GARD:0017386,GARD:0022524,GARD:0003705,,Rare neurologic disease +GARD:0017386,GARD:0022508,GARD:0003705,,Rare inborn errors of metabolism +GARD:0017386,GARD:0022531,GARD:0003705,,Rare genetic disease +GARD:0017386,GARD:0022513,GARD:0003705,,Rare developmental defect during embryogenesis +GARD:0017387,GARD:0022524,GARD:0003705,,Rare neurologic disease +GARD:0017387,GARD:0022531,GARD:0003705,,Rare genetic disease +GARD:0017387,GARD:0022520,GARD:0003705,,Rare ophthalmic disorder +GARD:0017387,GARD:0022508,GARD:0003705,,Rare inborn errors of metabolism +GARD:0017387,GARD:0022513,GARD:0003705,,Rare developmental defect during embryogenesis +GARD:0017388,GARD:0022513,GARD:0003705,,Rare developmental defect during embryogenesis +GARD:0017388,GARD:0022524,GARD:0003705,,Rare neurologic disease +GARD:0017388,GARD:0022520,GARD:0003705,,Rare ophthalmic disorder +GARD:0017388,GARD:0022508,GARD:0003705,,Rare inborn errors of metabolism +GARD:0017388,GARD:0022531,GARD:0003705,,Rare genetic disease +GARD:0017389,GARD:0022508,GARD:0018971,,Rare inborn errors of metabolism +GARD:0017389,GARD:0022531,GARD:0020552,,Rare genetic disease +GARD:0017389,GARD:0022531,GARD:0018971,,Rare genetic disease +GARD:0017389,GARD:0022524,GARD:0020552,,Rare neurologic disease +GARD:0017390,GARD:0022531,GARD:0013163,,Rare genetic disease +GARD:0017390,GARD:0022508,GARD:0013163,,Rare inborn errors of metabolism +GARD:0017391,GARD:0022508,GARD:0012623,,Rare inborn errors of metabolism +GARD:0017391,GARD:0022512,GARD:0012623,,Rare renal disease +GARD:0017391,GARD:0022536,GARD:0012623,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017391,GARD:0022531,GARD:0012623,,Rare genetic disease +GARD:0017392,GARD:0022512,GARD:0005392,,Rare renal disease +GARD:0017392,GARD:0022520,GARD:0005392,,Rare ophthalmic disorder +GARD:0017392,GARD:0022506,GARD:0005392,,Rare hepatic disease +GARD:0017392,GARD:0022508,GARD:0005392,,Rare inborn errors of metabolism +GARD:0017392,GARD:0022531,GARD:0005392,,Rare genetic disease +GARD:0017393,GARD:0022531,GARD:0005392,,Rare genetic disease +GARD:0017393,GARD:0022506,GARD:0005392,,Rare hepatic disease +GARD:0017393,GARD:0022520,GARD:0005392,,Rare ophthalmic disorder +GARD:0017393,GARD:0022508,GARD:0005392,,Rare inborn errors of metabolism +GARD:0017393,GARD:0022512,GARD:0005392,,Rare renal disease +GARD:0017394,GARD:0022506,GARD:0002520,,Rare hepatic disease +GARD:0017394,GARD:0022515,GARD:0002520,,Rare cardiac disease +GARD:0017394,GARD:0022508,GARD:0002520,,Rare inborn errors of metabolism +GARD:0017394,GARD:0022524,GARD:0002520,,Rare neurologic disease +GARD:0017394,GARD:0022536,GARD:0002520,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017394,GARD:0022531,GARD:0002520,,Rare genetic disease +GARD:0017395,GARD:0022508,GARD:0002520,,Rare inborn errors of metabolism +GARD:0017395,GARD:0022531,GARD:0002520,,Rare genetic disease +GARD:0017395,GARD:0022536,GARD:0002520,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017395,GARD:0022506,GARD:0002520,,Rare hepatic disease +GARD:0017395,GARD:0022524,GARD:0002520,,Rare neurologic disease +GARD:0017395,GARD:0022515,GARD:0002520,,Rare cardiac disease +GARD:0017396,GARD:0022515,GARD:0002520,,Rare cardiac disease +GARD:0017396,GARD:0022524,GARD:0002520,,Rare neurologic disease +GARD:0017396,GARD:0022506,GARD:0002520,,Rare hepatic disease +GARD:0017396,GARD:0022536,GARD:0002520,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017396,GARD:0022508,GARD:0002520,,Rare inborn errors of metabolism +GARD:0017396,GARD:0022531,GARD:0002520,,Rare genetic disease +GARD:0017397,GARD:0022531,GARD:0002520,,Rare genetic disease +GARD:0017397,GARD:0022515,GARD:0002520,,Rare cardiac disease +GARD:0017397,GARD:0022508,GARD:0002520,,Rare inborn errors of metabolism +GARD:0017397,GARD:0022536,GARD:0002520,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017397,GARD:0022524,GARD:0002520,,Rare neurologic disease +GARD:0017397,GARD:0022506,GARD:0002520,,Rare hepatic disease +GARD:0017398,GARD:0022515,GARD:0002520,,Rare cardiac disease +GARD:0017398,GARD:0022524,GARD:0002520,,Rare neurologic disease +GARD:0017398,GARD:0022506,GARD:0002520,,Rare hepatic disease +GARD:0017398,GARD:0022536,GARD:0002520,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017398,GARD:0022531,GARD:0002520,,Rare genetic disease +GARD:0017398,GARD:0022508,GARD:0002520,,Rare inborn errors of metabolism +GARD:0017399,GARD:0022515,GARD:0002520,,Rare cardiac disease +GARD:0017399,GARD:0022536,GARD:0002520,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017399,GARD:0022524,GARD:0002520,,Rare neurologic disease +GARD:0017399,GARD:0022531,GARD:0002520,,Rare genetic disease +GARD:0017399,GARD:0022506,GARD:0002520,,Rare hepatic disease +GARD:0017399,GARD:0022508,GARD:0002520,,Rare inborn errors of metabolism +GARD:0017400,GARD:0022524,GARD:0002520,,Rare neurologic disease +GARD:0017400,GARD:0022506,GARD:0002520,,Rare hepatic disease +GARD:0017400,GARD:0022536,GARD:0002520,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017400,GARD:0022515,GARD:0002520,,Rare cardiac disease +GARD:0017400,GARD:0022531,GARD:0002520,,Rare genetic disease +GARD:0017400,GARD:0022508,GARD:0002520,,Rare inborn errors of metabolism +GARD:0017401,GARD:0022516,GARD:0021316,,Rare gastroenterologic disease +GARD:0017401,GARD:0022508,GARD:0021316,,Rare inborn errors of metabolism +GARD:0017401,GARD:0022531,GARD:0021316,,Rare genetic disease +GARD:0017402,GARD:0022531,GARD:0021316,,Rare genetic disease +GARD:0017402,GARD:0022516,GARD:0021316,,Rare gastroenterologic disease +GARD:0017402,GARD:0022508,GARD:0021316,,Rare inborn errors of metabolism +GARD:0017403,GARD:0022508,GARD:0021316,,Rare inborn errors of metabolism +GARD:0017403,GARD:0022516,GARD:0021316,,Rare gastroenterologic disease +GARD:0017403,GARD:0022531,GARD:0021316,,Rare genetic disease +GARD:0017404,GARD:0022524,GARD:0002521,,Rare neurologic disease +GARD:0017404,GARD:0022508,GARD:0002521,,Rare inborn errors of metabolism +GARD:0017404,GARD:0022531,GARD:0002521,,Rare genetic disease +GARD:0017404,GARD:0022520,GARD:0002521,,Rare ophthalmic disorder +GARD:0017404,GARD:0022536,GARD:0002521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017405,GARD:0022536,GARD:0002521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017405,GARD:0022508,GARD:0002521,,Rare inborn errors of metabolism +GARD:0017405,GARD:0022531,GARD:0002521,,Rare genetic disease +GARD:0017405,GARD:0022524,GARD:0002521,,Rare neurologic disease +GARD:0017405,GARD:0022520,GARD:0002521,,Rare ophthalmic disorder +GARD:0017406,GARD:0022531,GARD:0021323,,Rare genetic disease +GARD:0017406,GARD:0022536,GARD:0021323,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017406,GARD:0022524,GARD:0021323,,Rare neurologic disease +GARD:0017406,GARD:0022508,GARD:0021323,,Rare inborn errors of metabolism +GARD:0017407,GARD:0022511,GARD:0006968,,Rare bone disease +GARD:0017407,GARD:0022524,GARD:0006968,,Rare neurologic disease +GARD:0017407,GARD:0022508,GARD:0006968,,Rare inborn errors of metabolism +GARD:0017407,GARD:0022520,GARD:0006968,,Rare ophthalmic disorder +GARD:0017407,GARD:0022531,GARD:0006968,,Rare genetic disease +GARD:0017408,GARD:0022531,GARD:0006968,,Rare genetic disease +GARD:0017408,GARD:0022511,GARD:0006968,,Rare bone disease +GARD:0017408,GARD:0022520,GARD:0006968,,Rare ophthalmic disorder +GARD:0017408,GARD:0022508,GARD:0006968,,Rare inborn errors of metabolism +GARD:0017408,GARD:0022524,GARD:0006968,,Rare neurologic disease +GARD:0017409,GARD:0022508,GARD:0013643,,Rare inborn errors of metabolism +GARD:0017409,GARD:0022531,GARD:0013643,,Rare genetic disease +GARD:0017409,GARD:0022531,GARD:0021403,,Rare genetic disease +GARD:0017409,GARD:0022524,GARD:0021403,,Rare neurologic disease +GARD:0017410,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0017410,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0017410,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017410,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017410,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017410,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0017411,GARD:0022534,GARD:0022534,,Rare abdominal surgical disease +GARD:0017411,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0017411,GARD:0022531,GARD:0022114,,Rare genetic disease +GARD:0017411,GARD:0022520,GARD:0022114,,Rare ophthalmic disorder +GARD:0017411,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0017412,GARD:0022524,GARD:0021960,GARD:0018441,Rare neurologic disease +GARD:0017412,GARD:0022531,GARD:0022109,GARD:0018441,Rare genetic disease +GARD:0017412,GARD:0022531,GARD:0022109,GARD:0018442,Rare genetic disease +GARD:0017412,GARD:0022531,GARD:0021960,GARD:0018441,Rare genetic disease +GARD:0017412,GARD:0022531,GARD:0022184,GARD:0018441,Rare genetic disease +GARD:0017412,GARD:0022524,GARD:0021960,GARD:0018442,Rare neurologic disease +GARD:0017412,GARD:0022520,GARD:0022104,GARD:0018442,Rare ophthalmic disorder +GARD:0017412,GARD:0022520,GARD:0022104,GARD:0018441,Rare ophthalmic disorder +GARD:0017412,GARD:0022531,GARD:0021960,GARD:0018442,Rare genetic disease +GARD:0017412,GARD:0022531,GARD:0022184,GARD:0018442,Rare genetic disease +GARD:0017412,GARD:0022520,GARD:0022109,GARD:0018441,Rare ophthalmic disorder +GARD:0017412,GARD:0022520,GARD:0022109,GARD:0018442,Rare ophthalmic disorder +GARD:0017413,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0017413,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0017413,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0017413,GARD:0022531,GARD:0020273,,Rare genetic disease +GARD:0017414,GARD:0022531,GARD:0021404,,Rare genetic disease +GARD:0017414,GARD:0022513,GARD:0021404,,Rare developmental defect during embryogenesis +GARD:0017414,GARD:0022524,GARD:0022211,,Rare neurologic disease +GARD:0017414,GARD:0022513,GARD:0022211,,Rare developmental defect during embryogenesis +GARD:0017414,GARD:0022531,GARD:0022211,,Rare genetic disease +GARD:0017415,GARD:0022513,GARD:0022211,,Rare developmental defect during embryogenesis +GARD:0017415,GARD:0022531,GARD:0022211,,Rare genetic disease +GARD:0017415,GARD:0022524,GARD:0022211,,Rare neurologic disease +GARD:0017416,GARD:0022535,GARD:0021758,,Rare neoplastic disease +GARD:0017416,GARD:0022516,GARD:0021758,,Rare gastroenterologic disease +GARD:0017417,GARD:0022531,GARD:0019846,,Rare genetic disease +GARD:0017417,GARD:0022516,GARD:0019846,,Rare gastroenterologic disease +GARD:0017417,GARD:0022536,GARD:0019846,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017418,GARD:0022531,GARD:0019846,,Rare genetic disease +GARD:0017418,GARD:0022516,GARD:0019846,,Rare gastroenterologic disease +GARD:0017418,GARD:0022536,GARD:0019846,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017419,GARD:0022511,GARD:0019197,,Rare bone disease +GARD:0017419,GARD:0022531,GARD:0021544,,Rare genetic disease +GARD:0017419,GARD:0022513,GARD:0019197,,Rare developmental defect during embryogenesis +GARD:0017419,GARD:0022531,GARD:0019197,,Rare genetic disease +GARD:0017420,GARD:0022531,GARD:0018889,,Rare genetic disease +GARD:0017420,GARD:0022536,GARD:0018889,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017420,GARD:0022522,GARD:0018889,,Rare hematologic disease +GARD:0017421,GARD:0022531,GARD:0019927,GARD:0018443,Rare genetic disease +GARD:0017421,GARD:0022524,GARD:0019927,GARD:0018443,Rare neurologic disease +GARD:0017421,GARD:0022531,GARD:0019927,GARD:0018444,Rare genetic disease +GARD:0017421,GARD:0022524,GARD:0019927,GARD:0018444,Rare neurologic disease +GARD:0017422,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0017422,GARD:0022513,GARD:0019207,,Rare developmental defect during embryogenesis +GARD:0017422,GARD:0022520,GARD:0022110,,Rare ophthalmic disorder +GARD:0017422,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017422,GARD:0022531,GARD:0019207,,Rare genetic disease +GARD:0017422,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017422,GARD:0022531,GARD:0021748,,Rare genetic disease +GARD:0017422,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0017422,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017422,GARD:0022531,GARD:0022185,,Rare genetic disease +GARD:0017422,GARD:0022511,GARD:0019207,,Rare bone disease +GARD:0017423,GARD:0022513,GARD:0019214,GARD:0018740,Rare developmental defect during embryogenesis +GARD:0017423,GARD:0022513,GARD:0020885,GARD:0018740,Rare developmental defect during embryogenesis +GARD:0017423,GARD:0022531,GARD:0022441,GARD:0018740,Rare genetic disease +GARD:0017423,GARD:0022513,GARD:0019214,GARD:0017424,Rare developmental defect during embryogenesis +GARD:0017423,GARD:0022531,GARD:0019528,GARD:0018740,Rare genetic disease +GARD:0017423,GARD:0022531,GARD:0019214,GARD:0017424,Rare genetic disease +GARD:0017423,GARD:0022524,GARD:0019832,GARD:0017424,Rare neurologic disease +GARD:0017423,GARD:0022531,GARD:0020885,GARD:0018740,Rare genetic disease +GARD:0017423,GARD:0022513,GARD:0019832,GARD:0017424,Rare developmental defect during embryogenesis +GARD:0017423,GARD:0022524,GARD:0019832,GARD:0018740,Rare neurologic disease +GARD:0017423,GARD:0022531,GARD:0022441,GARD:0017424,Rare genetic disease +GARD:0017423,GARD:0022513,GARD:0020885,GARD:0017424,Rare developmental defect during embryogenesis +GARD:0017423,GARD:0022520,GARD:0019528,GARD:0018740,Rare ophthalmic disorder +GARD:0017423,GARD:0022531,GARD:0020885,GARD:0017424,Rare genetic disease +GARD:0017423,GARD:0022520,GARD:0019528,GARD:0017424,Rare ophthalmic disorder +GARD:0017423,GARD:0022531,GARD:0019214,GARD:0018740,Rare genetic disease +GARD:0017423,GARD:0022513,GARD:0019832,GARD:0018740,Rare developmental defect during embryogenesis +GARD:0017423,GARD:0022531,GARD:0019528,GARD:0017424,Rare genetic disease +GARD:0017424,GARD:0022531,GARD:0017423,,Rare genetic disease +GARD:0017424,GARD:0022520,GARD:0017423,,Rare ophthalmic disorder +GARD:0017424,GARD:0022513,GARD:0017423,,Rare developmental defect during embryogenesis +GARD:0017424,GARD:0022524,GARD:0017423,,Rare neurologic disease +GARD:0017425,GARD:0022531,GARD:0021403,,Rare genetic disease +GARD:0017425,GARD:0022524,GARD:0021403,,Rare neurologic disease +GARD:0017425,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017425,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017425,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017425,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017426,GARD:0022520,GARD:0010973,,Rare ophthalmic disorder +GARD:0017426,GARD:0022508,GARD:0010973,,Rare inborn errors of metabolism +GARD:0017426,GARD:0022524,GARD:0010973,,Rare neurologic disease +GARD:0017426,GARD:0022531,GARD:0010973,,Rare genetic disease +GARD:0017427,GARD:0022531,GARD:0010739,,Rare genetic disease +GARD:0017427,GARD:0022531,GARD:0022077,,Rare genetic disease +GARD:0017427,GARD:0022524,GARD:0010739,,Rare neurologic disease +GARD:0017427,GARD:0022524,GARD:0022077,,Rare neurologic disease +GARD:0017427,GARD:0022508,GARD:0010739,,Rare inborn errors of metabolism +GARD:0017428,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017428,GARD:0022515,GARD:0020521,,Rare cardiac disease +GARD:0017428,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017428,GARD:0022536,GARD:0020521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017428,GARD:0022531,GARD:0020521,,Rare genetic disease +GARD:0017429,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017429,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017429,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0017429,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0017430,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0017430,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0017430,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017431,GARD:0022525,GARD:0005797,,Rare systemic or rheumatologic disease +GARD:0017431,GARD:0022522,GARD:0005797,,Rare hematologic disease +GARD:0017431,GARD:0022536,GARD:0005797,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017431,GARD:0022524,GARD:0005797,,Rare neurologic disease +GARD:0017431,GARD:0022515,GARD:0005797,,Rare cardiac disease +GARD:0017431,GARD:0022512,GARD:0005797,,Rare renal disease +GARD:0017431,GARD:0022535,GARD:0005797,,Rare neoplastic disease +GARD:0017432,GARD:0022534,GARD:0006227,,Rare abdominal surgical disease +GARD:0017432,GARD:0022531,GARD:0020628,,Rare genetic disease +GARD:0017432,GARD:0022531,GARD:0006227,,Rare genetic disease +GARD:0017432,GARD:0022518,GARD:0006227,,Rare surgical thoracic disease +GARD:0017432,GARD:0022513,GARD:0006227,,Rare developmental defect during embryogenesis +GARD:0017432,GARD:0022527,GARD:0020628,,Rare circulatory system disease +GARD:0017432,GARD:0022510,GARD:0006227,,Rare skin disease +GARD:0017433,GARD:0022526,GARD:0016575,,Rare odontologic disease +GARD:0017433,GARD:0022531,GARD:0016575,,Rare genetic disease +GARD:0017434,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0017434,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0017434,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0017435,GARD:0022531,GARD:0003924,,Rare genetic disease +GARD:0017435,GARD:0022521,GARD:0003924,,Rare endocrine disease +GARD:0017436,GARD:0022531,GARD:0019272,,Rare genetic disease +GARD:0017436,GARD:0022521,GARD:0019272,,Rare endocrine disease +GARD:0017437,GARD:0022508,GARD:0005984,,Rare inborn errors of metabolism +GARD:0017437,GARD:0022524,GARD:0005984,,Rare neurologic disease +GARD:0017437,GARD:0022531,GARD:0005984,,Rare genetic disease +GARD:0017438,GARD:0022508,GARD:0005984,,Rare inborn errors of metabolism +GARD:0017438,GARD:0022531,GARD:0005984,,Rare genetic disease +GARD:0017438,GARD:0022524,GARD:0005984,,Rare neurologic disease +GARD:0017439,GARD:0022531,GARD:0020665,,Rare genetic disease +GARD:0017439,GARD:0022524,GARD:0020665,,Rare neurologic disease +GARD:0017440,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0017440,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0017440,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0017440,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0017440,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0017441,GARD:0022531,GARD:0021406,,Rare genetic disease +GARD:0017441,GARD:0022523,GARD:0021406,,Rare immune disease +GARD:0017441,GARD:0022536,GARD:0021406,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017442,GARD:0022523,GARD:0021510,,Rare immune disease +GARD:0017442,GARD:0022531,GARD:0021510,,Rare genetic disease +GARD:0017443,GARD:0022524,GARD:0020134,,Rare neurologic disease +GARD:0017443,GARD:0022531,GARD:0000101,,Rare genetic disease +GARD:0017443,GARD:0022524,GARD:0000101,,Rare neurologic disease +GARD:0017443,GARD:0022531,GARD:0020134,,Rare genetic disease +GARD:0017444,GARD:0022531,GARD:0021275,,Rare genetic disease +GARD:0017444,GARD:0022524,GARD:0021275,,Rare neurologic disease +GARD:0017445,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017445,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017445,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017445,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017446,GARD:0022535,GARD:0013215,GARD:0018445,Rare neoplastic disease +GARD:0017446,GARD:0022536,GARD:0013215,GARD:0018445,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017446,GARD:0022512,GARD:0013215,GARD:0018445,Rare renal disease +GARD:0017447,GARD:0022531,GARD:0009138,,Rare genetic disease +GARD:0017447,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0017447,GARD:0022524,GARD:0009138,,Rare neurologic disease +GARD:0017447,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0017448,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0017448,GARD:0022535,GARD:0020097,,Rare neoplastic disease +GARD:0017448,GARD:0022515,GARD:0020097,,Rare cardiac disease +GARD:0017448,GARD:0022531,GARD:0020573,,Rare genetic disease +GARD:0017448,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0017448,GARD:0022511,GARD:0020573,,Rare bone disease +GARD:0017448,GARD:0022531,GARD:0021013,,Rare genetic disease +GARD:0017448,GARD:0022513,GARD:0020573,,Rare developmental defect during embryogenesis +GARD:0017449,GARD:0022531,GARD:0021420,,Rare genetic disease +GARD:0017449,GARD:0022512,GARD:0021420,,Rare renal disease +GARD:0017449,GARD:0022535,GARD:0021420,,Rare neoplastic disease +GARD:0017450,GARD:0022535,GARD:0012757,,Rare neoplastic disease +GARD:0017450,GARD:0022536,GARD:0012757,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017450,GARD:0022522,GARD:0012757,,Rare hematologic disease +GARD:0017450,GARD:0022535,GARD:0022461,,Rare neoplastic disease +GARD:0017450,GARD:0022531,GARD:0022461,,Rare genetic disease +GARD:0017450,GARD:0022531,GARD:0021434,,Rare genetic disease +GARD:0017451,GARD:0022536,GARD:0012758,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017451,GARD:0022535,GARD:0012758,,Rare neoplastic disease +GARD:0017451,GARD:0022531,GARD:0021434,,Rare genetic disease +GARD:0017451,GARD:0022522,GARD:0012758,,Rare hematologic disease +GARD:0017452,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017452,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017453,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017453,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017454,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017454,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017455,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017455,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017456,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017456,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017457,GARD:0022523,GARD:0021422,,Rare immune disease +GARD:0017457,GARD:0022531,GARD:0021422,,Rare genetic disease +GARD:0017458,GARD:0022531,GARD:0021422,,Rare genetic disease +GARD:0017458,GARD:0022525,GARD:0021957,,Rare systemic or rheumatologic disease +GARD:0017458,GARD:0021079,GARD:0021986,,Rare systemic or rheumatological disease of childhood +GARD:0017458,GARD:0022523,GARD:0021422,,Rare immune disease +GARD:0017458,GARD:0022531,GARD:0021957,,Rare genetic disease +GARD:0017459,GARD:0022531,GARD:0021423,,Rare genetic disease +GARD:0017459,GARD:0022523,GARD:0021423,,Rare immune disease +GARD:0017460,GARD:0022531,GARD:0021423,,Rare genetic disease +GARD:0017460,GARD:0022523,GARD:0021423,,Rare immune disease +GARD:0017461,GARD:0022531,GARD:0021424,,Rare genetic disease +GARD:0017461,GARD:0022523,GARD:0021424,,Rare immune disease +GARD:0017462,GARD:0022523,GARD:0021424,,Rare immune disease +GARD:0017462,GARD:0022531,GARD:0021424,,Rare genetic disease +GARD:0017463,GARD:0022531,GARD:0021424,,Rare genetic disease +GARD:0017463,GARD:0022523,GARD:0021424,,Rare immune disease +GARD:0017464,GARD:0022531,GARD:0012977,GARD:0017465,Rare genetic disease +GARD:0017464,GARD:0022531,GARD:0012977,GARD:0012915,Rare genetic disease +GARD:0017464,GARD:0022523,GARD:0012977,GARD:0017465,Rare immune disease +GARD:0017464,GARD:0022523,GARD:0012977,GARD:0012915,Rare immune disease +GARD:0017465,GARD:0022531,GARD:0017464,,Rare genetic disease +GARD:0017465,GARD:0022523,GARD:0017464,,Rare immune disease +GARD:0017466,GARD:0022510,GARD:0000132,,Rare skin disease +GARD:0017467,GARD:0022520,GARD:0022097,,Rare ophthalmic disorder +GARD:0017467,GARD:0022531,GARD:0022097,,Rare genetic disease +GARD:0017468,GARD:0022513,GARD:0021450,,Rare developmental defect during embryogenesis +GARD:0017468,GARD:0022531,GARD:0021450,,Rare genetic disease +GARD:0017468,GARD:0022524,GARD:0021450,,Rare neurologic disease +GARD:0017469,GARD:0022531,GARD:0021450,,Rare genetic disease +GARD:0017469,GARD:0022513,GARD:0021450,,Rare developmental defect during embryogenesis +GARD:0017469,GARD:0022524,GARD:0021450,,Rare neurologic disease +GARD:0017470,GARD:0022531,GARD:0010423,,Rare genetic disease +GARD:0017470,GARD:0022515,GARD:0020521,,Rare cardiac disease +GARD:0017470,GARD:0022536,GARD:0020521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017470,GARD:0022508,GARD:0010423,,Rare inborn errors of metabolism +GARD:0017470,GARD:0022531,GARD:0020521,,Rare genetic disease +GARD:0017470,GARD:0022524,GARD:0010423,,Rare neurologic disease +GARD:0017471,GARD:0022524,GARD:0019771,,Rare neurologic disease +GARD:0017471,GARD:0022531,GARD:0019771,,Rare genetic disease +GARD:0017472,GARD:0022524,GARD:0019770,,Rare neurologic disease +GARD:0017472,GARD:0022531,GARD:0019770,,Rare genetic disease +GARD:0017473,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017473,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017474,GARD:0022524,GARD:0021797,,Rare neurologic disease +GARD:0017474,GARD:0022524,GARD:0022015,,Rare neurologic disease +GARD:0017474,GARD:0022531,GARD:0021797,,Rare genetic disease +GARD:0017474,GARD:0022508,GARD:0022015,,Rare inborn errors of metabolism +GARD:0017474,GARD:0022520,GARD:0021797,,Rare ophthalmic disorder +GARD:0017474,GARD:0022531,GARD:0022015,,Rare genetic disease +GARD:0017474,GARD:0022520,GARD:0022015,,Rare ophthalmic disorder +GARD:0017475,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017475,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017475,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017475,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017476,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017476,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017476,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017476,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017477,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017477,GARD:0022531,GARD:0021431,,Rare genetic disease +GARD:0017477,GARD:0022524,GARD:0021431,,Rare neurologic disease +GARD:0017477,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017478,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017478,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017479,GARD:0022531,GARD:0021797,,Rare genetic disease +GARD:0017479,GARD:0022524,GARD:0021797,,Rare neurologic disease +GARD:0017479,GARD:0022520,GARD:0021797,,Rare ophthalmic disorder +GARD:0017480,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017480,GARD:0022524,GARD:0021431,,Rare neurologic disease +GARD:0017480,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017480,GARD:0022531,GARD:0021431,,Rare genetic disease +GARD:0017481,GARD:0022524,GARD:0017556,,Rare neurologic disease +GARD:0017481,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017481,GARD:0022508,GARD:0017556,,Rare inborn errors of metabolism +GARD:0017481,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017481,GARD:0022531,GARD:0017556,,Rare genetic disease +GARD:0017482,GARD:0022531,GARD:0007140,,Rare genetic disease +GARD:0017482,GARD:0022524,GARD:0007140,,Rare neurologic disease +GARD:0017483,GARD:0022523,GARD:0021509,,Rare immune disease +GARD:0017483,GARD:0022536,GARD:0022063,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017483,GARD:0022531,GARD:0021509,,Rare genetic disease +GARD:0017484,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017484,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017484,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0017484,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017484,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0017485,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017485,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0017485,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017485,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0017486,GARD:0021079,GARD:0021456,,Rare systemic or rheumatological disease of childhood +GARD:0017486,GARD:0022525,GARD:0021456,,Rare systemic or rheumatologic disease +GARD:0017486,GARD:0022531,GARD:0021456,,Rare genetic disease +GARD:0017487,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017487,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017487,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017487,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017488,GARD:0022531,GARD:0010977,,Rare genetic disease +GARD:0017488,GARD:0022513,GARD:0010977,,Rare developmental defect during embryogenesis +GARD:0017488,GARD:0022524,GARD:0010977,,Rare neurologic disease +GARD:0017489,GARD:0022536,GARD:0010266,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017489,GARD:0022525,GARD:0010266,,Rare systemic or rheumatologic disease +GARD:0017489,GARD:0022524,GARD:0010266,,Rare neurologic disease +GARD:0017489,GARD:0022531,GARD:0010266,,Rare genetic disease +GARD:0017490,GARD:0022524,GARD:0010266,,Rare neurologic disease +GARD:0017490,GARD:0022531,GARD:0010266,,Rare genetic disease +GARD:0017490,GARD:0022536,GARD:0010266,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017490,GARD:0022525,GARD:0010266,,Rare systemic or rheumatologic disease +GARD:0017491,GARD:0022525,GARD:0010266,,Rare systemic or rheumatologic disease +GARD:0017491,GARD:0022531,GARD:0010266,,Rare genetic disease +GARD:0017491,GARD:0022536,GARD:0010266,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017491,GARD:0022524,GARD:0010266,,Rare neurologic disease +GARD:0017492,GARD:0022525,GARD:0010266,,Rare systemic or rheumatologic disease +GARD:0017492,GARD:0022524,GARD:0010266,,Rare neurologic disease +GARD:0017492,GARD:0022536,GARD:0010266,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017492,GARD:0022531,GARD:0010266,,Rare genetic disease +GARD:0017493,GARD:0022531,GARD:0010266,,Rare genetic disease +GARD:0017493,GARD:0022536,GARD:0010266,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017493,GARD:0022525,GARD:0010266,,Rare systemic or rheumatologic disease +GARD:0017493,GARD:0022524,GARD:0010266,,Rare neurologic disease +GARD:0017494,GARD:0022531,GARD:0021456,,Rare genetic disease +GARD:0017494,GARD:0021079,GARD:0021456,,Rare systemic or rheumatological disease of childhood +GARD:0017494,GARD:0022523,GARD:0021510,,Rare immune disease +GARD:0017494,GARD:0022531,GARD:0021510,,Rare genetic disease +GARD:0017494,GARD:0022525,GARD:0021456,,Rare systemic or rheumatologic disease +GARD:0017495,GARD:0022513,GARD:0022021,,Rare developmental defect during embryogenesis +GARD:0017495,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0017495,GARD:0022511,GARD:0022021,,Rare bone disease +GARD:0017495,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0017495,GARD:0022531,GARD:0022021,,Rare genetic disease +GARD:0017495,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0017496,GARD:0022531,GARD:0010248,,Rare genetic disease +GARD:0017496,GARD:0022524,GARD:0010248,,Rare neurologic disease +GARD:0017497,GARD:0022520,GARD:0022104,,Rare ophthalmic disorder +GARD:0017497,GARD:0022520,GARD:0022098,,Rare ophthalmic disorder +GARD:0017497,GARD:0022531,GARD:0022098,,Rare genetic disease +GARD:0017497,GARD:0022531,GARD:0022184,,Rare genetic disease +GARD:0017498,GARD:0022531,GARD:0021450,,Rare genetic disease +GARD:0017498,GARD:0022524,GARD:0021450,,Rare neurologic disease +GARD:0017498,GARD:0022513,GARD:0021450,,Rare developmental defect during embryogenesis +GARD:0017499,GARD:0022531,GARD:0012280,,Rare genetic disease +GARD:0017499,GARD:0022521,GARD:0012280,,Rare endocrine disease +GARD:0017500,GARD:0022536,GARD:0018918,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017500,GARD:0022516,GARD:0018918,,Rare gastroenterologic disease +GARD:0017500,GARD:0022531,GARD:0021546,,Rare genetic disease +GARD:0017501,GARD:0022508,GARD:0020758,,Rare inborn errors of metabolism +GARD:0017501,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0017501,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0017501,GARD:0022531,GARD:0020758,,Rare genetic disease +GARD:0017502,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017502,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0017502,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017502,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017502,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0017502,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0017503,GARD:0022524,GARD:0020371,GARD:0018450,Rare neurologic disease +GARD:0017503,GARD:0022531,GARD:0020755,GARD:0018450,Rare genetic disease +GARD:0017503,GARD:0022531,GARD:0020371,GARD:0018450,Rare genetic disease +GARD:0017503,GARD:0022531,GARD:0022158,GARD:0018450,Rare genetic disease +GARD:0017503,GARD:0022528,GARD:0019145,GARD:0018450,Rare otorhinolaryngologic disease +GARD:0017503,GARD:0022531,GARD:0019145,GARD:0018450,Rare genetic disease +GARD:0017503,GARD:0022524,GARD:0018890,GARD:0018450,Rare neurologic disease +GARD:0017503,GARD:0022508,GARD:0020755,GARD:0018450,Rare inborn errors of metabolism +GARD:0017503,GARD:0022531,GARD:0018890,GARD:0018450,Rare genetic disease +GARD:0017503,GARD:0022520,GARD:0022118,GARD:0018450,Rare ophthalmic disorder +GARD:0017503,GARD:0022513,GARD:0019145,GARD:0018450,Rare developmental defect during embryogenesis +GARD:0017504,GARD:0022508,GARD:0020232,,Rare inborn errors of metabolism +GARD:0017504,GARD:0022536,GARD:0022290,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017504,GARD:0022531,GARD:0022290,,Rare genetic disease +GARD:0017504,GARD:0022531,GARD:0020232,,Rare genetic disease +GARD:0017504,GARD:0022521,GARD:0020232,,Rare endocrine disease +GARD:0017504,GARD:0022512,GARD:0022290,,Rare renal disease +GARD:0017505,GARD:0022513,GARD:0020862,,Rare developmental defect during embryogenesis +GARD:0017505,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017505,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017505,GARD:0022531,GARD:0020862,,Rare genetic disease +GARD:0017505,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017506,GARD:0022512,GARD:0011982,,Rare renal disease +GARD:0017506,GARD:0022531,GARD:0011982,,Rare genetic disease +GARD:0017506,GARD:0022536,GARD:0011982,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017507,GARD:0022512,GARD:0011982,GARD:0008555,Rare renal disease +GARD:0017507,GARD:0022531,GARD:0011982,GARD:0016487,Rare genetic disease +GARD:0017507,GARD:0022512,GARD:0011982,GARD:0016487,Rare renal disease +GARD:0017507,GARD:0022536,GARD:0011982,GARD:0016487,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017507,GARD:0022531,GARD:0011982,GARD:0008555,Rare genetic disease +GARD:0017507,GARD:0022536,GARD:0011982,GARD:0008555,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017508,GARD:0022531,GARD:0003065,,Rare genetic disease +GARD:0017508,GARD:0022516,GARD:0003065,,Rare gastroenterologic disease +GARD:0017508,GARD:0022535,GARD:0003065,,Rare neoplastic disease +GARD:0017508,GARD:0022536,GARD:0003065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017509,GARD:0022524,GARD:0022192,,Rare neurologic disease +GARD:0017509,GARD:0022531,GARD:0022192,,Rare genetic disease +GARD:0017509,GARD:0022508,GARD:0022192,,Rare inborn errors of metabolism +GARD:0017510,GARD:0022510,GARD:0019018,,Rare skin disease +GARD:0017511,GARD:0022536,GARD:0021834,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017511,GARD:0022523,GARD:0021834,,Rare immune disease +GARD:0017511,GARD:0022531,GARD:0021834,,Rare genetic disease +GARD:0017512,GARD:0022523,GARD:0021919,,Rare immune disease +GARD:0017512,GARD:0022531,GARD:0021919,,Rare genetic disease +GARD:0017513,GARD:0022523,GARD:0021919,,Rare immune disease +GARD:0017513,GARD:0022531,GARD:0021919,,Rare genetic disease +GARD:0017514,GARD:0022523,GARD:0021423,,Rare immune disease +GARD:0017514,GARD:0022531,GARD:0021423,,Rare genetic disease +GARD:0017515,GARD:0022531,GARD:0021112,,Rare genetic disease +GARD:0017515,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017515,GARD:0022508,GARD:0021517,,Rare inborn errors of metabolism +GARD:0017515,GARD:0022531,GARD:0021517,,Rare genetic disease +GARD:0017515,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017515,GARD:0022510,GARD:0021112,,Rare skin disease +GARD:0017515,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017515,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017516,GARD:0022524,GARD:0018718,,Rare neurologic disease +GARD:0017516,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017516,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017516,GARD:0022531,GARD:0018718,,Rare genetic disease +GARD:0017517,GARD:0022508,GARD:0021520,,Rare inborn errors of metabolism +GARD:0017517,GARD:0022531,GARD:0022158,,Rare genetic disease +GARD:0017517,GARD:0022531,GARD:0021520,,Rare genetic disease +GARD:0017517,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017517,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0017517,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017517,GARD:0022520,GARD:0022118,,Rare ophthalmic disorder +GARD:0017517,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017517,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017517,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0017518,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0017518,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0017518,GARD:0022508,GARD:0020758,,Rare inborn errors of metabolism +GARD:0017518,GARD:0022531,GARD:0020758,,Rare genetic disease +GARD:0017519,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0017519,GARD:0022531,GARD:0020402,,Rare genetic disease +GARD:0017519,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0017519,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017519,GARD:0022508,GARD:0021340,,Rare inborn errors of metabolism +GARD:0017519,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0017519,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0017519,GARD:0022531,GARD:0021340,,Rare genetic disease +GARD:0017519,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017520,GARD:0022531,GARD:0010248,,Rare genetic disease +GARD:0017520,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017520,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017520,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017520,GARD:0022524,GARD:0010248,,Rare neurologic disease +GARD:0017521,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017521,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0017521,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0017521,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017521,GARD:0022524,GARD:0019436,,Rare neurologic disease +GARD:0017521,GARD:0022531,GARD:0019436,,Rare genetic disease +GARD:0017522,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0017522,GARD:0022531,GARD:0019436,,Rare genetic disease +GARD:0017522,GARD:0022524,GARD:0019436,,Rare neurologic disease +GARD:0017522,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0017523,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0017523,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0017523,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0017523,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0017524,GARD:0022531,GARD:0022177,,Rare genetic disease +GARD:0017524,GARD:0022520,GARD:0019518,,Rare ophthalmic disorder +GARD:0017525,GARD:0022531,GARD:0022177,,Rare genetic disease +GARD:0017525,GARD:0022510,GARD:0019448,,Rare skin disease +GARD:0017525,GARD:0022531,GARD:0019448,,Rare genetic disease +GARD:0017525,GARD:0022520,GARD:0019518,,Rare ophthalmic disorder +GARD:0017526,GARD:0022524,GARD:0003277,,Rare neurologic disease +GARD:0017526,GARD:0022531,GARD:0003277,,Rare genetic disease +GARD:0017526,GARD:0022513,GARD:0003277,,Rare developmental defect during embryogenesis +GARD:0017527,GARD:0022531,GARD:0010973,,Rare genetic disease +GARD:0017527,GARD:0022524,GARD:0010973,,Rare neurologic disease +GARD:0017527,GARD:0022508,GARD:0010973,,Rare inborn errors of metabolism +GARD:0017527,GARD:0022520,GARD:0010973,,Rare ophthalmic disorder +GARD:0017528,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0017528,GARD:0022523,GARD:0021510,,Rare immune disease +GARD:0017528,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0017528,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0017528,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0017528,GARD:0022531,GARD:0021510,,Rare genetic disease +GARD:0017529,GARD:0022531,GARD:0021352,,Rare genetic disease +GARD:0017529,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0017529,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0017529,GARD:0022508,GARD:0021352,,Rare inborn errors of metabolism +GARD:0017530,GARD:0022520,GARD:0004037,,Rare ophthalmic disorder +GARD:0017530,GARD:0022508,GARD:0004037,,Rare inborn errors of metabolism +GARD:0017530,GARD:0022531,GARD:0004037,,Rare genetic disease +GARD:0017530,GARD:0022510,GARD:0004037,,Rare skin disease +GARD:0017531,GARD:0022531,GARD:0010958,,Rare genetic disease +GARD:0017531,GARD:0022508,GARD:0010958,,Rare inborn errors of metabolism +GARD:0017531,GARD:0022510,GARD:0010958,,Rare skin disease +GARD:0017531,GARD:0022520,GARD:0010958,,Rare ophthalmic disorder +GARD:0017532,GARD:0022524,GARD:0019435,,Rare neurologic disease +GARD:0017532,GARD:0022531,GARD:0020762,,Rare genetic disease +GARD:0017532,GARD:0022508,GARD:0020762,,Rare inborn errors of metabolism +GARD:0017532,GARD:0022531,GARD:0019435,,Rare genetic disease +GARD:0017533,GARD:0022510,GARD:0000132,GARD:0018638,Rare skin disease +GARD:0017533,GARD:0022531,GARD:0021970,GARD:0018637,Rare genetic disease +GARD:0017533,GARD:0022531,GARD:0021970,GARD:0018638,Rare genetic disease +GARD:0017533,GARD:0022510,GARD:0000132,GARD:0018637,Rare skin disease +GARD:0017534,GARD:0022535,GARD:0007593,,Rare neoplastic disease +GARD:0017534,GARD:0022511,GARD:0007593,,Rare bone disease +GARD:0017534,GARD:0022512,GARD:0007593,,Rare renal disease +GARD:0017534,GARD:0022513,GARD:0007593,,Rare developmental defect during embryogenesis +GARD:0017534,GARD:0022531,GARD:0007593,,Rare genetic disease +GARD:0017534,GARD:0022524,GARD:0007593,,Rare neurologic disease +GARD:0017534,GARD:0022536,GARD:0007593,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017534,GARD:0022520,GARD:0007593,,Rare ophthalmic disorder +GARD:0017534,GARD:0022521,GARD:0007593,,Rare endocrine disease +GARD:0017535,GARD:0022512,GARD:0007593,,Rare renal disease +GARD:0017535,GARD:0022535,GARD:0007593,,Rare neoplastic disease +GARD:0017535,GARD:0022513,GARD:0007593,,Rare developmental defect during embryogenesis +GARD:0017535,GARD:0022520,GARD:0007593,,Rare ophthalmic disorder +GARD:0017535,GARD:0022536,GARD:0007593,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017535,GARD:0022521,GARD:0007593,,Rare endocrine disease +GARD:0017535,GARD:0022531,GARD:0007593,,Rare genetic disease +GARD:0017535,GARD:0022511,GARD:0007593,,Rare bone disease +GARD:0017535,GARD:0022524,GARD:0007593,,Rare neurologic disease +GARD:0017536,GARD:0022531,GARD:0007512,,Rare genetic disease +GARD:0017536,GARD:0022508,GARD:0007512,,Rare inborn errors of metabolism +GARD:0017537,GARD:0022531,GARD:0007512,,Rare genetic disease +GARD:0017537,GARD:0022508,GARD:0007512,,Rare inborn errors of metabolism +GARD:0017538,GARD:0022508,GARD:0007512,,Rare inborn errors of metabolism +GARD:0017538,GARD:0022531,GARD:0007512,,Rare genetic disease +GARD:0017539,GARD:0022531,GARD:0021335,GARD:0018453,Rare genetic disease +GARD:0017539,GARD:0022520,GARD:0011902,GARD:0018452,Rare ophthalmic disorder +GARD:0017539,GARD:0022531,GARD:0021603,GARD:0018452,Rare genetic disease +GARD:0017539,GARD:0022524,GARD:0021603,GARD:0018452,Rare neurologic disease +GARD:0017539,GARD:0022520,GARD:0011902,GARD:0018451,Rare ophthalmic disorder +GARD:0017539,GARD:0022531,GARD:0021603,GARD:0018451,Rare genetic disease +GARD:0017539,GARD:0022520,GARD:0011902,GARD:0018454,Rare ophthalmic disorder +GARD:0017539,GARD:0022531,GARD:0011902,GARD:0018454,Rare genetic disease +GARD:0017539,GARD:0022531,GARD:0011902,GARD:0018451,Rare genetic disease +GARD:0017539,GARD:0022524,GARD:0011902,GARD:0018451,Rare neurologic disease +GARD:0017539,GARD:0022531,GARD:0021603,GARD:0018453,Rare genetic disease +GARD:0017539,GARD:0022513,GARD:0011902,GARD:0018454,Rare developmental defect during embryogenesis +GARD:0017539,GARD:0022524,GARD:0021603,GARD:0018453,Rare neurologic disease +GARD:0017539,GARD:0022531,GARD:0011902,GARD:0018453,Rare genetic disease +GARD:0017539,GARD:0022508,GARD:0021335,GARD:0018454,Rare inborn errors of metabolism +GARD:0017539,GARD:0022524,GARD:0011902,GARD:0018453,Rare neurologic disease +GARD:0017539,GARD:0022508,GARD:0021335,GARD:0018453,Rare inborn errors of metabolism +GARD:0017539,GARD:0022513,GARD:0011902,GARD:0018453,Rare developmental defect during embryogenesis +GARD:0017539,GARD:0022508,GARD:0021335,GARD:0018451,Rare inborn errors of metabolism +GARD:0017539,GARD:0022508,GARD:0021335,GARD:0018452,Rare inborn errors of metabolism +GARD:0017539,GARD:0022524,GARD:0011902,GARD:0018452,Rare neurologic disease +GARD:0017539,GARD:0022531,GARD:0011902,GARD:0018452,Rare genetic disease +GARD:0017539,GARD:0022531,GARD:0021335,GARD:0018454,Rare genetic disease +GARD:0017539,GARD:0022524,GARD:0021603,GARD:0018454,Rare neurologic disease +GARD:0017539,GARD:0022524,GARD:0021603,GARD:0018451,Rare neurologic disease +GARD:0017539,GARD:0022520,GARD:0011902,GARD:0018453,Rare ophthalmic disorder +GARD:0017539,GARD:0022513,GARD:0011902,GARD:0018452,Rare developmental defect during embryogenesis +GARD:0017539,GARD:0022513,GARD:0011902,GARD:0018451,Rare developmental defect during embryogenesis +GARD:0017539,GARD:0022524,GARD:0011902,GARD:0018454,Rare neurologic disease +GARD:0017539,GARD:0022531,GARD:0021335,GARD:0018451,Rare genetic disease +GARD:0017539,GARD:0022531,GARD:0021335,GARD:0018452,Rare genetic disease +GARD:0017539,GARD:0022531,GARD:0021603,GARD:0018454,Rare genetic disease +GARD:0017540,GARD:0022524,GARD:0010761,,Rare neurologic disease +GARD:0017540,GARD:0022531,GARD:0010761,,Rare genetic disease +GARD:0017540,GARD:0022508,GARD:0010761,,Rare inborn errors of metabolism +GARD:0017541,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017541,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017542,GARD:0022531,GARD:0020819,,Rare genetic disease +GARD:0017542,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017542,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017542,GARD:0022513,GARD:0020819,,Rare developmental defect during embryogenesis +GARD:0017542,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017543,GARD:0022512,GARD:0022233,,Rare renal disease +GARD:0017543,GARD:0022531,GARD:0022330,,Rare genetic disease +GARD:0017543,GARD:0022536,GARD:0022233,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017543,GARD:0022522,GARD:0022330,,Rare hematologic disease +GARD:0017544,GARD:0022520,GARD:0007563,,Rare ophthalmic disorder +GARD:0017544,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0017544,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0017544,GARD:0022535,GARD:0007563,,Rare neoplastic disease +GARD:0017544,GARD:0022531,GARD:0020310,,Rare genetic disease +GARD:0017545,GARD:0022520,GARD:0007563,,Rare ophthalmic disorder +GARD:0017545,GARD:0022535,GARD:0007563,,Rare neoplastic disease +GARD:0017546,GARD:0022513,GARD:0001638,,Rare developmental defect during embryogenesis +GARD:0017546,GARD:0022508,GARD:0001638,,Rare inborn errors of metabolism +GARD:0017546,GARD:0022531,GARD:0001638,,Rare genetic disease +GARD:0017546,GARD:0022534,GARD:0001638,,Rare abdominal surgical disease +GARD:0017546,GARD:0022510,GARD:0001638,,Rare skin disease +GARD:0017546,GARD:0022518,GARD:0001638,,Rare surgical thoracic disease +GARD:0017546,GARD:0022524,GARD:0001638,,Rare neurologic disease +GARD:0017546,GARD:0022511,GARD:0001638,,Rare bone disease +GARD:0017547,GARD:0022507,GARD:0019980,,Rare maxillo-facial surgical disease +GARD:0017547,GARD:0022511,GARD:0019980,,Rare bone disease +GARD:0017547,GARD:0022513,GARD:0019980,,Rare developmental defect during embryogenesis +GARD:0017547,GARD:0022531,GARD:0019502,,Rare genetic disease +GARD:0017547,GARD:0022528,GARD:0019980,,Rare otorhinolaryngologic disease +GARD:0017547,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0017547,GARD:0022513,GARD:0019502,,Rare developmental defect during embryogenesis +GARD:0017547,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0017547,GARD:0022520,GARD:0019502,,Rare ophthalmic disorder +GARD:0017547,GARD:0022531,GARD:0019980,,Rare genetic disease +GARD:0017548,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017548,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017548,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017549,GARD:0022531,GARD:0021636,,Rare genetic disease +GARD:0017549,GARD:0022536,GARD:0021636,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017549,GARD:0022523,GARD:0021636,,Rare immune disease +GARD:0017550,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017550,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0017550,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0017551,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0017551,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0017551,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0017552,GARD:0022521,GARD:0012597,,Rare endocrine disease +GARD:0017552,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0017552,GARD:0022531,GARD:0012597,,Rare genetic disease +GARD:0017552,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0017552,GARD:0022510,GARD:0012597,,Rare skin disease +GARD:0017553,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0017553,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0017554,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0017554,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0017555,GARD:0022531,GARD:0012632,,Rare genetic disease +GARD:0017555,GARD:0022508,GARD:0012632,,Rare inborn errors of metabolism +GARD:0017555,GARD:0022524,GARD:0012632,,Rare neurologic disease +GARD:0017556,GARD:0022524,GARD:0019413,GARD:0017481,Rare neurologic disease +GARD:0017556,GARD:0022531,GARD:0019413,GARD:0017481,Rare genetic disease +GARD:0017556,GARD:0022531,GARD:0018948,GARD:0017557,Rare genetic disease +GARD:0017556,GARD:0022524,GARD:0019413,GARD:0017557,Rare neurologic disease +GARD:0017556,GARD:0022531,GARD:0019413,GARD:0017557,Rare genetic disease +GARD:0017556,GARD:0022508,GARD:0018948,GARD:0017481,Rare inborn errors of metabolism +GARD:0017556,GARD:0022508,GARD:0018948,GARD:0017557,Rare inborn errors of metabolism +GARD:0017556,GARD:0022531,GARD:0018948,GARD:0017481,Rare genetic disease +GARD:0017557,GARD:0022508,GARD:0017556,,Rare inborn errors of metabolism +GARD:0017557,GARD:0022531,GARD:0017556,,Rare genetic disease +GARD:0017557,GARD:0022524,GARD:0017556,,Rare neurologic disease +GARD:0017557,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017557,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017558,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017558,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017558,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017559,GARD:0022531,GARD:0020454,GARD:0013222,Rare genetic disease +GARD:0017559,GARD:0022531,GARD:0020454,GARD:0013519,Rare genetic disease +GARD:0017559,GARD:0022524,GARD:0020454,GARD:0013519,Rare neurologic disease +GARD:0017559,GARD:0022524,GARD:0020454,GARD:0013222,Rare neurologic disease +GARD:0017560,GARD:0022535,GARD:0021549,,Rare neoplastic disease +GARD:0017560,GARD:0022532,GARD:0021549,,Rare urogenital disease +GARD:0017561,GARD:0022536,GARD:0013047,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017561,GARD:0022532,GARD:0013047,,Rare urogenital disease +GARD:0017561,GARD:0022535,GARD:0013047,,Rare neoplastic disease +GARD:0017562,GARD:0022531,GARD:0021293,,Rare genetic disease +GARD:0017562,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017562,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0017562,GARD:0022510,GARD:0021293,,Rare skin disease +GARD:0017562,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017563,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0017563,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017563,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017563,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0017563,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017564,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0017564,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017564,GARD:0022531,GARD:0020769,,Rare genetic disease +GARD:0017564,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017564,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017564,GARD:0022506,GARD:0020769,,Rare hepatic disease +GARD:0017564,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0017564,GARD:0022508,GARD:0020769,,Rare inborn errors of metabolism +GARD:0017565,GARD:0022531,GARD:0022219,,Rare genetic disease +GARD:0017565,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0017565,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0017566,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017566,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017566,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017567,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0017567,GARD:0022531,GARD:0021284,,Rare genetic disease +GARD:0017568,GARD:0022531,GARD:0020364,,Rare genetic disease +GARD:0017568,GARD:0022531,GARD:0022158,,Rare genetic disease +GARD:0017568,GARD:0022524,GARD:0020364,,Rare neurologic disease +GARD:0017568,GARD:0022520,GARD:0022118,,Rare ophthalmic disorder +GARD:0017569,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0017569,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017569,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017569,GARD:0022517,GARD:0021036,,Rare respiratory disease +GARD:0017569,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0017569,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017570,GARD:0022535,GARD:0007866,,Rare neoplastic disease +GARD:0017570,GARD:0022512,GARD:0007866,,Rare renal disease +GARD:0017570,GARD:0022531,GARD:0007866,,Rare genetic disease +GARD:0017570,GARD:0022513,GARD:0007866,,Rare developmental defect during embryogenesis +GARD:0017570,GARD:0022536,GARD:0007866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017570,GARD:0022527,GARD:0007866,,Rare circulatory system disease +GARD:0017570,GARD:0022511,GARD:0007866,,Rare bone disease +GARD:0017570,GARD:0022510,GARD:0007866,,Rare skin disease +GARD:0017570,GARD:0022524,GARD:0007866,,Rare neurologic disease +GARD:0017570,GARD:0022520,GARD:0007866,,Rare ophthalmic disorder +GARD:0017571,GARD:0022513,GARD:0019207,,Rare developmental defect during embryogenesis +GARD:0017571,GARD:0022518,GARD:0006227,,Rare surgical thoracic disease +GARD:0017571,GARD:0022531,GARD:0006227,,Rare genetic disease +GARD:0017571,GARD:0022513,GARD:0006227,,Rare developmental defect during embryogenesis +GARD:0017571,GARD:0022531,GARD:0019207,,Rare genetic disease +GARD:0017571,GARD:0022511,GARD:0019207,,Rare bone disease +GARD:0017571,GARD:0022510,GARD:0006227,,Rare skin disease +GARD:0017571,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017571,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017571,GARD:0022534,GARD:0006227,,Rare abdominal surgical disease +GARD:0017571,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017572,GARD:0022524,GARD:0005774,,Rare neurologic disease +GARD:0017572,GARD:0022531,GARD:0005774,,Rare genetic disease +GARD:0017573,GARD:0022531,GARD:0022151,,Rare genetic disease +GARD:0017573,GARD:0022520,GARD:0022116,,Rare ophthalmic disorder +GARD:0017573,GARD:0022531,GARD:0005774,,Rare genetic disease +GARD:0017573,GARD:0022524,GARD:0005774,,Rare neurologic disease +GARD:0017574,GARD:0022531,GARD:0020539,,Rare genetic disease +GARD:0017574,GARD:0022522,GARD:0001999,,Rare hematologic disease +GARD:0017574,GARD:0022522,GARD:0020539,,Rare hematologic disease +GARD:0017574,GARD:0022531,GARD:0001999,,Rare genetic disease +GARD:0017575,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0017575,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0017575,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017575,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0017575,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017575,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0017575,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0017575,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017575,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0017576,GARD:0022524,GARD:0010727,,Rare neurologic disease +GARD:0017576,GARD:0022513,GARD:0010727,,Rare developmental defect during embryogenesis +GARD:0017576,GARD:0022531,GARD:0010727,,Rare genetic disease +GARD:0017576,GARD:0022513,GARD:0020836,,Rare developmental defect during embryogenesis +GARD:0017576,GARD:0022531,GARD:0020836,,Rare genetic disease +GARD:0017577,GARD:0022531,GARD:0019561,,Rare genetic disease +GARD:0017577,GARD:0022519,GARD:0019561,,Rare surgical cardiac disease +GARD:0017577,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0017577,GARD:0022513,GARD:0019561,,Rare developmental defect during embryogenesis +GARD:0017577,GARD:0022536,GARD:0020523,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017577,GARD:0022515,GARD:0020523,,Rare cardiac disease +GARD:0017577,GARD:0022531,GARD:0020523,,Rare genetic disease +GARD:0017577,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0017577,GARD:0022524,GARD:0021965,,Rare neurologic disease +GARD:0017577,GARD:0022531,GARD:0021965,,Rare genetic disease +GARD:0017578,GARD:0022531,GARD:0012440,,Rare genetic disease +GARD:0017578,GARD:0022524,GARD:0012440,,Rare neurologic disease +GARD:0017579,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0017579,GARD:0022520,GARD:0022093,,Rare ophthalmic disorder +GARD:0017579,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0017579,GARD:0022531,GARD:0021114,,Rare genetic disease +GARD:0017579,GARD:0022513,GARD:0022093,,Rare developmental defect during embryogenesis +GARD:0017579,GARD:0022531,GARD:0022093,,Rare genetic disease +GARD:0017579,GARD:0022510,GARD:0021114,,Rare skin disease +GARD:0017580,GARD:0022513,GARD:0002783,,Rare developmental defect during embryogenesis +GARD:0017580,GARD:0022531,GARD:0020290,,Rare genetic disease +GARD:0017581,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017581,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017581,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017582,GARD:0022524,GARD:0020241,,Rare neurologic disease +GARD:0017582,GARD:0022531,GARD:0020241,,Rare genetic disease +GARD:0017582,GARD:0022524,GARD:0021628,,Rare neurologic disease +GARD:0017582,GARD:0022531,GARD:0021628,,Rare genetic disease +GARD:0017583,GARD:0022513,GARD:0019895,,Rare developmental defect during embryogenesis +GARD:0017583,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017583,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017583,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0017583,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017583,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0017583,GARD:0022507,GARD:0019895,,Rare maxillo-facial surgical disease +GARD:0017583,GARD:0022531,GARD:0021545,,Rare genetic disease +GARD:0017583,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0017583,GARD:0022528,GARD:0019895,,Rare otorhinolaryngologic disease +GARD:0017584,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017584,GARD:0022508,GARD:0021342,,Rare inborn errors of metabolism +GARD:0017584,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017584,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017584,GARD:0022531,GARD:0021342,,Rare genetic disease +GARD:0017584,GARD:0022513,GARD:0021609,,Rare developmental defect during embryogenesis +GARD:0017584,GARD:0022531,GARD:0021609,,Rare genetic disease +GARD:0017584,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0017584,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0017584,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0017585,GARD:0022536,GARD:0021508,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017585,GARD:0022531,GARD:0021508,,Rare genetic disease +GARD:0017585,GARD:0022523,GARD:0021508,,Rare immune disease +GARD:0017586,GARD:0022531,GARD:0021514,,Rare genetic disease +GARD:0017586,GARD:0022523,GARD:0021514,,Rare immune disease +GARD:0017586,GARD:0022522,GARD:0019453,,Rare hematologic disease +GARD:0017586,GARD:0022531,GARD:0019453,,Rare genetic disease +GARD:0017587,GARD:0022524,GARD:0012452,,Rare neurologic disease +GARD:0017587,GARD:0022531,GARD:0012452,,Rare genetic disease +GARD:0017588,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0017588,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017588,GARD:0022531,GARD:0021016,,Rare genetic disease +GARD:0017588,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0017588,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0017588,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017588,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017589,GARD:0022515,GARD:0020521,,Rare cardiac disease +GARD:0017589,GARD:0022531,GARD:0020521,,Rare genetic disease +GARD:0017589,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017589,GARD:0022536,GARD:0020521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017589,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017590,GARD:0022513,GARD:0010977,,Rare developmental defect during embryogenesis +GARD:0017590,GARD:0022531,GARD:0010977,,Rare genetic disease +GARD:0017590,GARD:0022524,GARD:0010977,,Rare neurologic disease +GARD:0017591,GARD:0022521,GARD:0020623,,Rare endocrine disease +GARD:0017591,GARD:0022531,GARD:0021617,,Rare genetic disease +GARD:0017592,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017592,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017592,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017592,GARD:0022524,GARD:0021596,,Rare neurologic disease +GARD:0017592,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017592,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017592,GARD:0022531,GARD:0021596,,Rare genetic disease +GARD:0017592,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017593,GARD:0022520,GARD:0022106,,Rare ophthalmic disorder +GARD:0017593,GARD:0022531,GARD:0022106,,Rare genetic disease +GARD:0017594,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0017594,GARD:0022531,GARD:0018991,,Rare genetic disease +GARD:0017594,GARD:0022531,GARD:0010956,,Rare genetic disease +GARD:0017594,GARD:0022523,GARD:0010956,,Rare immune disease +GARD:0017594,GARD:0022530,GARD:0022530,,Rare allergic disease +GARD:0017595,GARD:0022531,GARD:0019447,,Rare genetic disease +GARD:0017595,GARD:0022510,GARD:0019447,,Rare skin disease +GARD:0017596,GARD:0022510,GARD:0021295,,Rare skin disease +GARD:0017596,GARD:0022531,GARD:0021295,,Rare genetic disease +GARD:0017597,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0017597,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017597,GARD:0022520,GARD:0019547,,Rare ophthalmic disorder +GARD:0017597,GARD:0022531,GARD:0019547,,Rare genetic disease +GARD:0017597,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0017597,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017597,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0017598,GARD:0022508,GARD:0010958,,Rare inborn errors of metabolism +GARD:0017598,GARD:0022520,GARD:0010958,,Rare ophthalmic disorder +GARD:0017598,GARD:0022510,GARD:0010958,,Rare skin disease +GARD:0017598,GARD:0022531,GARD:0010958,,Rare genetic disease +GARD:0017599,GARD:0022531,GARD:0010958,,Rare genetic disease +GARD:0017599,GARD:0022508,GARD:0010958,,Rare inborn errors of metabolism +GARD:0017599,GARD:0022510,GARD:0010958,,Rare skin disease +GARD:0017599,GARD:0022520,GARD:0010958,,Rare ophthalmic disorder +GARD:0017600,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0017600,GARD:0022536,GARD:0022063,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017601,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0017601,GARD:0022511,GARD:0020547,,Rare bone disease +GARD:0017601,GARD:0022535,GARD:0020547,,Rare neoplastic disease +GARD:0017602,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017602,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0017602,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0017602,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0017602,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017602,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0017603,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0017603,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017603,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017603,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0017603,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0017603,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0017604,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0017604,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017604,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0017604,GARD:0022513,GARD:0000786,,Rare developmental defect during embryogenesis +GARD:0017604,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0017604,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017604,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0017604,GARD:0022524,GARD:0010248,,Rare neurologic disease +GARD:0017604,GARD:0022531,GARD:0012782,,Rare genetic disease +GARD:0017604,GARD:0022513,GARD:0012782,,Rare developmental defect during embryogenesis +GARD:0017604,GARD:0022531,GARD:0010248,,Rare genetic disease +GARD:0017604,GARD:0022531,GARD:0000786,,Rare genetic disease +GARD:0017605,GARD:0022524,GARD:0022440,GARD:0018455,Rare neurologic disease +GARD:0017605,GARD:0022531,GARD:0021603,GARD:0018455,Rare genetic disease +GARD:0017605,GARD:0022531,GARD:0012584,GARD:0018455,Rare genetic disease +GARD:0017605,GARD:0022531,GARD:0021340,GARD:0018455,Rare genetic disease +GARD:0017605,GARD:0022531,GARD:0022440,GARD:0018455,Rare genetic disease +GARD:0017605,GARD:0022524,GARD:0012584,GARD:0018455,Rare neurologic disease +GARD:0017605,GARD:0022524,GARD:0021603,GARD:0018455,Rare neurologic disease +GARD:0017605,GARD:0022508,GARD:0021340,GARD:0018455,Rare inborn errors of metabolism +GARD:0017606,GARD:0022524,GARD:0012584,,Rare neurologic disease +GARD:0017606,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017606,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0017606,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017606,GARD:0022531,GARD:0012584,,Rare genetic disease +GARD:0017606,GARD:0022531,GARD:0021340,,Rare genetic disease +GARD:0017606,GARD:0022508,GARD:0021340,,Rare inborn errors of metabolism +GARD:0017606,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0017607,GARD:0022531,GARD:0012584,GARD:0018456,Rare genetic disease +GARD:0017607,GARD:0022508,GARD:0021340,GARD:0018456,Rare inborn errors of metabolism +GARD:0017607,GARD:0022531,GARD:0021603,GARD:0018456,Rare genetic disease +GARD:0017607,GARD:0022524,GARD:0012584,GARD:0018456,Rare neurologic disease +GARD:0017607,GARD:0022531,GARD:0021340,GARD:0018456,Rare genetic disease +GARD:0017607,GARD:0022524,GARD:0021603,GARD:0018456,Rare neurologic disease +GARD:0017608,GARD:0022513,GARD:0012588,,Rare developmental defect during embryogenesis +GARD:0017608,GARD:0022531,GARD:0021602,,Rare genetic disease +GARD:0017608,GARD:0022531,GARD:0012588,,Rare genetic disease +GARD:0017608,GARD:0022524,GARD:0012588,,Rare neurologic disease +GARD:0017609,GARD:0022524,GARD:0019563,GARD:0018458,Rare neurologic disease +GARD:0017609,GARD:0022531,GARD:0019563,GARD:0018458,Rare genetic disease +GARD:0017609,GARD:0022524,GARD:0019832,GARD:0018457,Rare neurologic disease +GARD:0017609,GARD:0022531,GARD:0020280,GARD:0018457,Rare genetic disease +GARD:0017609,GARD:0022513,GARD:0019832,GARD:0018458,Rare developmental defect during embryogenesis +GARD:0017609,GARD:0022524,GARD:0020240,GARD:0018457,Rare neurologic disease +GARD:0017609,GARD:0022531,GARD:0022441,GARD:0018457,Rare genetic disease +GARD:0017609,GARD:0022531,GARD:0020280,GARD:0018458,Rare genetic disease +GARD:0017609,GARD:0022513,GARD:0019832,GARD:0018457,Rare developmental defect during embryogenesis +GARD:0017609,GARD:0022531,GARD:0019563,GARD:0018457,Rare genetic disease +GARD:0017609,GARD:0022524,GARD:0019832,GARD:0018458,Rare neurologic disease +GARD:0017609,GARD:0022531,GARD:0022441,GARD:0018458,Rare genetic disease +GARD:0017609,GARD:0022524,GARD:0019563,GARD:0018457,Rare neurologic disease +GARD:0017609,GARD:0022524,GARD:0020240,GARD:0018458,Rare neurologic disease +GARD:0017610,GARD:0022513,GARD:0019204,GARD:0013743,Rare developmental defect during embryogenesis +GARD:0017610,GARD:0022511,GARD:0019204,GARD:0013743,Rare bone disease +GARD:0017610,GARD:0022531,GARD:0019204,GARD:0013743,Rare genetic disease +GARD:0017610,GARD:0022511,GARD:0019204,GARD:0007894,Rare bone disease +GARD:0017610,GARD:0022513,GARD:0019204,GARD:0007894,Rare developmental defect during embryogenesis +GARD:0017610,GARD:0022531,GARD:0019204,GARD:0007894,Rare genetic disease +GARD:0017611,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017611,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017611,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017612,GARD:0022531,GARD:0020322,,Rare genetic disease +GARD:0017612,GARD:0022523,GARD:0020322,,Rare immune disease +GARD:0017613,GARD:0022531,GARD:0022413,,Rare genetic disease +GARD:0017613,GARD:0022522,GARD:0022413,,Rare hematologic disease +GARD:0017614,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0017614,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0017614,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0017615,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017615,GARD:0022531,GARD:0020760,,Rare genetic disease +GARD:0017615,GARD:0022508,GARD:0020760,,Rare inborn errors of metabolism +GARD:0017615,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017616,GARD:0022531,GARD:0012440,,Rare genetic disease +GARD:0017616,GARD:0022524,GARD:0012440,,Rare neurologic disease +GARD:0017616,GARD:0022508,GARD:0018771,,Rare inborn errors of metabolism +GARD:0017616,GARD:0022531,GARD:0018771,,Rare genetic disease +GARD:0017617,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017617,GARD:0022508,GARD:0021622,,Rare inborn errors of metabolism +GARD:0017617,GARD:0022531,GARD:0021622,,Rare genetic disease +GARD:0017617,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017618,GARD:0022524,GARD:0012684,,Rare neurologic disease +GARD:0017618,GARD:0022531,GARD:0012684,,Rare genetic disease +GARD:0017619,GARD:0022524,GARD:0012684,,Rare neurologic disease +GARD:0017619,GARD:0022531,GARD:0012684,,Rare genetic disease +GARD:0017620,GARD:0022531,GARD:0022441,GARD:0018459,Rare genetic disease +GARD:0017620,GARD:0022513,GARD:0021000,GARD:0018460,Rare developmental defect during embryogenesis +GARD:0017620,GARD:0022531,GARD:0020312,GARD:0018459,Rare genetic disease +GARD:0017620,GARD:0022513,GARD:0021000,GARD:0018459,Rare developmental defect during embryogenesis +GARD:0017620,GARD:0022524,GARD:0021000,GARD:0018459,Rare neurologic disease +GARD:0017620,GARD:0022531,GARD:0021000,GARD:0018459,Rare genetic disease +GARD:0017620,GARD:0022524,GARD:0021000,GARD:0018460,Rare neurologic disease +GARD:0017620,GARD:0022524,GARD:0019832,GARD:0018459,Rare neurologic disease +GARD:0017620,GARD:0022521,GARD:0020216,GARD:0018460,Rare endocrine disease +GARD:0017620,GARD:0022524,GARD:0019832,GARD:0018460,Rare neurologic disease +GARD:0017620,GARD:0022531,GARD:0022441,GARD:0018460,Rare genetic disease +GARD:0017620,GARD:0022513,GARD:0019832,GARD:0018459,Rare developmental defect during embryogenesis +GARD:0017620,GARD:0022513,GARD:0019832,GARD:0018460,Rare developmental defect during embryogenesis +GARD:0017620,GARD:0022531,GARD:0021000,GARD:0018460,Rare genetic disease +GARD:0017620,GARD:0022531,GARD:0020312,GARD:0018460,Rare genetic disease +GARD:0017620,GARD:0022521,GARD:0020216,GARD:0018459,Rare endocrine disease +GARD:0017621,GARD:0022531,GARD:0021284,GARD:0018461,Rare genetic disease +GARD:0017621,GARD:0022531,GARD:0021284,GARD:0018462,Rare genetic disease +GARD:0017621,GARD:0022524,GARD:0021261,GARD:0018461,Rare neurologic disease +GARD:0017621,GARD:0022524,GARD:0021261,GARD:0018462,Rare neurologic disease +GARD:0017622,GARD:0022531,GARD:0010716,,Rare genetic disease +GARD:0017622,GARD:0022508,GARD:0010716,,Rare inborn errors of metabolism +GARD:0017622,GARD:0022524,GARD:0010716,,Rare neurologic disease +GARD:0017623,GARD:0022531,GARD:0010716,,Rare genetic disease +GARD:0017623,GARD:0022524,GARD:0010716,,Rare neurologic disease +GARD:0017623,GARD:0022508,GARD:0010716,,Rare inborn errors of metabolism +GARD:0017624,GARD:0022531,GARD:0008407,,Rare genetic disease +GARD:0017624,GARD:0022524,GARD:0008407,,Rare neurologic disease +GARD:0017624,GARD:0022511,GARD:0008407,,Rare bone disease +GARD:0017624,GARD:0022536,GARD:0008407,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017624,GARD:0022534,GARD:0008407,,Rare abdominal surgical disease +GARD:0017624,GARD:0022513,GARD:0008407,,Rare developmental defect during embryogenesis +GARD:0017625,GARD:0022513,GARD:0008407,,Rare developmental defect during embryogenesis +GARD:0017625,GARD:0022536,GARD:0008407,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017625,GARD:0022534,GARD:0008407,,Rare abdominal surgical disease +GARD:0017625,GARD:0022511,GARD:0008407,,Rare bone disease +GARD:0017625,GARD:0022531,GARD:0008407,,Rare genetic disease +GARD:0017625,GARD:0022524,GARD:0008407,,Rare neurologic disease +GARD:0017626,GARD:0022531,GARD:0006523,,Rare genetic disease +GARD:0017626,GARD:0022508,GARD:0006523,,Rare inborn errors of metabolism +GARD:0017626,GARD:0022536,GARD:0006523,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017626,GARD:0022524,GARD:0006523,,Rare neurologic disease +GARD:0017626,GARD:0022515,GARD:0006523,,Rare cardiac disease +GARD:0017627,GARD:0022536,GARD:0006523,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017627,GARD:0022531,GARD:0006523,,Rare genetic disease +GARD:0017627,GARD:0022508,GARD:0006523,,Rare inborn errors of metabolism +GARD:0017627,GARD:0022515,GARD:0006523,,Rare cardiac disease +GARD:0017627,GARD:0022524,GARD:0006523,,Rare neurologic disease +GARD:0017628,GARD:0022535,GARD:0004870,GARD:0018464,Rare neoplastic disease +GARD:0017628,GARD:0022513,GARD:0004870,GARD:0018465,Rare developmental defect during embryogenesis +GARD:0017628,GARD:0022513,GARD:0004870,GARD:0018463,Rare developmental defect during embryogenesis +GARD:0017628,GARD:0022513,GARD:0004870,GARD:0018464,Rare developmental defect during embryogenesis +GARD:0017628,GARD:0022520,GARD:0004870,GARD:0018465,Rare ophthalmic disorder +GARD:0017628,GARD:0022531,GARD:0004870,GARD:0018463,Rare genetic disease +GARD:0017628,GARD:0022524,GARD:0004870,GARD:0018465,Rare neurologic disease +GARD:0017628,GARD:0022535,GARD:0004870,GARD:0018465,Rare neoplastic disease +GARD:0017628,GARD:0022524,GARD:0004870,GARD:0018464,Rare neurologic disease +GARD:0017628,GARD:0022535,GARD:0004870,GARD:0018463,Rare neoplastic disease +GARD:0017628,GARD:0022520,GARD:0004870,GARD:0018463,Rare ophthalmic disorder +GARD:0017628,GARD:0022531,GARD:0004870,GARD:0018465,Rare genetic disease +GARD:0017628,GARD:0022524,GARD:0004870,GARD:0018463,Rare neurologic disease +GARD:0017628,GARD:0022531,GARD:0004870,GARD:0018464,Rare genetic disease +GARD:0017628,GARD:0022520,GARD:0004870,GARD:0018464,Rare ophthalmic disorder +GARD:0017629,GARD:0022531,GARD:0021322,GARD:0018466,Rare genetic disease +GARD:0017629,GARD:0022508,GARD:0021322,GARD:0018466,Rare inborn errors of metabolism +GARD:0017630,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017630,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017630,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017631,GARD:0022521,GARD:0019439,,Rare endocrine disease +GARD:0017631,GARD:0022531,GARD:0019439,,Rare genetic disease +GARD:0017632,GARD:0022520,GARD:0022119,,Rare ophthalmic disorder +GARD:0017632,GARD:0022531,GARD:0022152,,Rare genetic disease +GARD:0017633,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0017633,GARD:0022513,GARD:0019999,,Rare developmental defect during embryogenesis +GARD:0017633,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0017633,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017633,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0017633,GARD:0022531,GARD:0019999,,Rare genetic disease +GARD:0017633,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0017633,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017633,GARD:0022528,GARD:0019999,,Rare otorhinolaryngologic disease +GARD:0017633,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0017633,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0017633,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0017633,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017634,GARD:0022531,GARD:0021691,,Rare genetic disease +GARD:0017634,GARD:0022531,GARD:0021686,,Rare genetic disease +GARD:0017634,GARD:0022521,GARD:0020218,,Rare endocrine disease +GARD:0017634,GARD:0022531,GARD:0020313,,Rare genetic disease +GARD:0017634,GARD:0022529,GARD:0021678,,Rare infertility +GARD:0017634,GARD:0022529,GARD:0021670,,Rare infertility +GARD:0017635,GARD:0022522,GARD:0018889,GARD:0016136,Rare hematologic disease +GARD:0017635,GARD:0022531,GARD:0018889,GARD:0016136,Rare genetic disease +GARD:0017635,GARD:0022536,GARD:0018889,GARD:0016136,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017636,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0017636,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017636,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0017636,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017636,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0017636,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017637,GARD:0022513,GARD:0018726,GARD:0018467,Rare developmental defect during embryogenesis +GARD:0017637,GARD:0022517,GARD:0018726,GARD:0018467,Rare respiratory disease +GARD:0017637,GARD:0022531,GARD:0019931,GARD:0015997,Rare genetic disease +GARD:0017637,GARD:0022511,GARD:0018726,GARD:0015997,Rare bone disease +GARD:0017637,GARD:0022531,GARD:0019931,GARD:0018467,Rare genetic disease +GARD:0017637,GARD:0022513,GARD:0018726,GARD:0015997,Rare developmental defect during embryogenesis +GARD:0017637,GARD:0022524,GARD:0019931,GARD:0015997,Rare neurologic disease +GARD:0017637,GARD:0022531,GARD:0018726,GARD:0018467,Rare genetic disease +GARD:0017637,GARD:0022517,GARD:0018726,GARD:0015997,Rare respiratory disease +GARD:0017637,GARD:0022520,GARD:0019931,GARD:0015997,Rare ophthalmic disorder +GARD:0017637,GARD:0022524,GARD:0019931,GARD:0018467,Rare neurologic disease +GARD:0017637,GARD:0022520,GARD:0019931,GARD:0018467,Rare ophthalmic disorder +GARD:0017637,GARD:0022511,GARD:0018726,GARD:0018467,Rare bone disease +GARD:0017637,GARD:0022531,GARD:0018726,GARD:0015997,Rare genetic disease +GARD:0017638,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0017638,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0017639,GARD:0022531,GARD:0019926,,Rare genetic disease +GARD:0017639,GARD:0022531,GARD:0020361,,Rare genetic disease +GARD:0017639,GARD:0022524,GARD:0019926,,Rare neurologic disease +GARD:0017639,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017639,GARD:0022524,GARD:0020361,,Rare neurologic disease +GARD:0017639,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017639,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017640,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0017640,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0017641,GARD:0022536,GARD:0021636,GARD:0018469,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017641,GARD:0022536,GARD:0021636,GARD:0018468,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017641,GARD:0022523,GARD:0021636,GARD:0018469,Rare immune disease +GARD:0017641,GARD:0022531,GARD:0021636,GARD:0018469,Rare genetic disease +GARD:0017641,GARD:0022523,GARD:0021636,GARD:0018468,Rare immune disease +GARD:0017641,GARD:0022531,GARD:0021636,GARD:0018468,Rare genetic disease +GARD:0017642,GARD:0022513,GARD:0020974,,Rare developmental defect during embryogenesis +GARD:0017642,GARD:0022531,GARD:0020974,,Rare genetic disease +GARD:0017642,GARD:0022524,GARD:0020974,,Rare neurologic disease +GARD:0017643,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017643,GARD:0022536,GARD:0020526,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017643,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017643,GARD:0022531,GARD:0020370,,Rare genetic disease +GARD:0017643,GARD:0022515,GARD:0020526,,Rare cardiac disease +GARD:0017643,GARD:0022524,GARD:0020370,,Rare neurologic disease +GARD:0017643,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0017643,GARD:0022531,GARD:0020526,,Rare genetic disease +GARD:0017643,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0017644,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017644,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017645,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017645,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017645,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017646,GARD:0022516,GARD:0008689,,Rare gastroenterologic disease +GARD:0017646,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017646,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0017646,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0017647,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017647,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0017647,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0017648,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017648,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0017648,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017648,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0017648,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017648,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0017649,GARD:0022510,GARD:0008416,,Rare skin disease +GARD:0017649,GARD:0022531,GARD:0008416,,Rare genetic disease +GARD:0017649,GARD:0022513,GARD:0008416,,Rare developmental defect during embryogenesis +GARD:0017650,GARD:0022510,GARD:0008416,,Rare skin disease +GARD:0017650,GARD:0022513,GARD:0008416,,Rare developmental defect during embryogenesis +GARD:0017650,GARD:0022531,GARD:0008416,,Rare genetic disease +GARD:0017651,GARD:0022531,GARD:0020361,,Rare genetic disease +GARD:0017651,GARD:0022515,GARD:0020523,,Rare cardiac disease +GARD:0017651,GARD:0022531,GARD:0020523,,Rare genetic disease +GARD:0017651,GARD:0022536,GARD:0020523,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017651,GARD:0022531,GARD:0019600,,Rare genetic disease +GARD:0017651,GARD:0022524,GARD:0020361,,Rare neurologic disease +GARD:0017651,GARD:0022524,GARD:0019600,,Rare neurologic disease +GARD:0017652,GARD:0022524,GARD:0020361,,Rare neurologic disease +GARD:0017652,GARD:0022531,GARD:0020361,,Rare genetic disease +GARD:0017653,GARD:0022524,GARD:0020362,,Rare neurologic disease +GARD:0017653,GARD:0022531,GARD:0020362,,Rare genetic disease +GARD:0017654,GARD:0022529,GARD:0012513,GARD:0012502,Rare infertility +GARD:0017654,GARD:0022531,GARD:0012513,GARD:0017971,Rare genetic disease +GARD:0017654,GARD:0022529,GARD:0012513,GARD:0017971,Rare infertility +GARD:0017654,GARD:0022531,GARD:0012513,GARD:0012385,Rare genetic disease +GARD:0017654,GARD:0022529,GARD:0012513,GARD:0012385,Rare infertility +GARD:0017654,GARD:0022531,GARD:0012513,GARD:0012502,Rare genetic disease +GARD:0017655,GARD:0022522,GARD:0018889,,Rare hematologic disease +GARD:0017655,GARD:0022531,GARD:0018889,,Rare genetic disease +GARD:0017655,GARD:0022536,GARD:0018889,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017656,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017656,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017657,GARD:0022531,GARD:0019773,,Rare genetic disease +GARD:0017657,GARD:0022524,GARD:0019773,,Rare neurologic disease +GARD:0017658,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017658,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017659,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017659,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017659,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017659,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017660,GARD:0022524,GARD:0019771,,Rare neurologic disease +GARD:0017660,GARD:0022531,GARD:0019773,,Rare genetic disease +GARD:0017660,GARD:0022531,GARD:0019771,,Rare genetic disease +GARD:0017660,GARD:0022524,GARD:0019773,,Rare neurologic disease +GARD:0017661,GARD:0022531,GARD:0012632,,Rare genetic disease +GARD:0017661,GARD:0022524,GARD:0012632,,Rare neurologic disease +GARD:0017661,GARD:0022508,GARD:0012632,,Rare inborn errors of metabolism +GARD:0017662,GARD:0022524,GARD:0012632,,Rare neurologic disease +GARD:0017662,GARD:0022531,GARD:0012632,,Rare genetic disease +GARD:0017662,GARD:0022508,GARD:0012632,,Rare inborn errors of metabolism +GARD:0017663,GARD:0022513,GARD:0019965,,Rare developmental defect during embryogenesis +GARD:0017663,GARD:0022507,GARD:0019965,,Rare maxillo-facial surgical disease +GARD:0017663,GARD:0022531,GARD:0021740,,Rare genetic disease +GARD:0017664,GARD:0022516,GARD:0019786,,Rare gastroenterologic disease +GARD:0017664,GARD:0022524,GARD:0021965,,Rare neurologic disease +GARD:0017664,GARD:0022531,GARD:0021965,,Rare genetic disease +GARD:0017664,GARD:0022531,GARD:0020061,,Rare genetic disease +GARD:0017665,GARD:0022531,GARD:0020457,,Rare genetic disease +GARD:0017665,GARD:0022524,GARD:0020457,,Rare neurologic disease +GARD:0017666,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017666,GARD:0022513,GARD:0018969,,Rare developmental defect during embryogenesis +GARD:0017666,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017666,GARD:0022508,GARD:0018969,,Rare inborn errors of metabolism +GARD:0017666,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017666,GARD:0022531,GARD:0018969,,Rare genetic disease +GARD:0017667,GARD:0022531,GARD:0019193,,Rare genetic disease +GARD:0017667,GARD:0022511,GARD:0019193,,Rare bone disease +GARD:0017667,GARD:0022513,GARD:0019193,,Rare developmental defect during embryogenesis +GARD:0017668,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017668,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017668,GARD:0022531,GARD:0020806,,Rare genetic disease +GARD:0017668,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017668,GARD:0022513,GARD:0020806,,Rare developmental defect during embryogenesis +GARD:0017669,GARD:0022510,GARD:0021295,,Rare skin disease +GARD:0017669,GARD:0022531,GARD:0021295,,Rare genetic disease +GARD:0017670,GARD:0022513,GARD:0019552,GARD:0018470,Rare developmental defect during embryogenesis +GARD:0017670,GARD:0022527,GARD:0019552,GARD:0018470,Rare circulatory system disease +GARD:0017670,GARD:0022519,GARD:0019552,GARD:0018470,Rare surgical cardiac disease +GARD:0017670,GARD:0022518,GARD:0021130,GARD:0018471,Rare surgical thoracic disease +GARD:0017670,GARD:0022519,GARD:0019552,GARD:0018471,Rare surgical cardiac disease +GARD:0017670,GARD:0022531,GARD:0021130,GARD:0018470,Rare genetic disease +GARD:0017670,GARD:0022531,GARD:0021016,GARD:0018471,Rare genetic disease +GARD:0017670,GARD:0022527,GARD:0019552,GARD:0018471,Rare circulatory system disease +GARD:0017670,GARD:0022531,GARD:0021130,GARD:0018471,Rare genetic disease +GARD:0017670,GARD:0022513,GARD:0019552,GARD:0018471,Rare developmental defect during embryogenesis +GARD:0017670,GARD:0022518,GARD:0021130,GARD:0018470,Rare surgical thoracic disease +GARD:0017670,GARD:0022531,GARD:0021016,GARD:0018470,Rare genetic disease +GARD:0017670,GARD:0022527,GARD:0021130,GARD:0018470,Rare circulatory system disease +GARD:0017670,GARD:0022527,GARD:0021130,GARD:0018471,Rare circulatory system disease +GARD:0017671,GARD:0022524,GARD:0007140,,Rare neurologic disease +GARD:0017671,GARD:0022531,GARD:0007140,,Rare genetic disease +GARD:0017672,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0017672,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0017672,GARD:0022524,GARD:0020088,,Rare neurologic disease +GARD:0017672,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0017672,GARD:0022531,GARD:0020088,,Rare genetic disease +GARD:0017673,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017673,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017673,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017674,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0017674,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0017674,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017674,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017674,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017675,GARD:0022529,GARD:0021718,,Rare infertility +GARD:0017675,GARD:0022531,GARD:0021718,,Rare genetic disease +GARD:0017676,GARD:0022512,GARD:0021420,,Rare renal disease +GARD:0017676,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017676,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0017676,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0017676,GARD:0022535,GARD:0021420,,Rare neoplastic disease +GARD:0017676,GARD:0022531,GARD:0021420,,Rare genetic disease +GARD:0017677,GARD:0022524,GARD:0021719,,Rare neurologic disease +GARD:0017677,GARD:0022531,GARD:0021719,,Rare genetic disease +GARD:0017678,GARD:0022524,GARD:0021719,,Rare neurologic disease +GARD:0017678,GARD:0022531,GARD:0021719,,Rare genetic disease +GARD:0017679,GARD:0022523,GARD:0021161,,Rare immune disease +GARD:0017679,GARD:0022531,GARD:0021161,,Rare genetic disease +GARD:0017679,GARD:0021079,GARD:0021459,,Rare systemic or rheumatological disease of childhood +GARD:0017679,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0017679,GARD:0022525,GARD:0021454,,Rare systemic or rheumatologic disease +GARD:0017679,GARD:0022531,GARD:0021018,,Rare genetic disease +GARD:0017679,GARD:0022531,GARD:0022488,,Rare genetic disease +GARD:0017680,GARD:0022531,GARD:0010977,,Rare genetic disease +GARD:0017680,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017680,GARD:0022513,GARD:0010977,,Rare developmental defect during embryogenesis +GARD:0017680,GARD:0022524,GARD:0010977,,Rare neurologic disease +GARD:0017680,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017680,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017681,GARD:0022512,GARD:0004337,,Rare renal disease +GARD:0017681,GARD:0022508,GARD:0004337,,Rare inborn errors of metabolism +GARD:0017681,GARD:0022531,GARD:0004337,,Rare genetic disease +GARD:0017681,GARD:0022524,GARD:0004337,,Rare neurologic disease +GARD:0017682,GARD:0022508,GARD:0004337,,Rare inborn errors of metabolism +GARD:0017682,GARD:0022531,GARD:0004337,,Rare genetic disease +GARD:0017682,GARD:0022512,GARD:0004337,,Rare renal disease +GARD:0017682,GARD:0022524,GARD:0004337,,Rare neurologic disease +GARD:0017683,GARD:0022531,GARD:0020312,,Rare genetic disease +GARD:0017683,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017683,GARD:0022521,GARD:0020215,,Rare endocrine disease +GARD:0017683,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017683,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017683,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0017683,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0017684,GARD:0022524,GARD:0019484,GARD:0018475,Rare neurologic disease +GARD:0017684,GARD:0022531,GARD:0021878,GARD:0018474,Rare genetic disease +GARD:0017684,GARD:0022524,GARD:0021261,GARD:0018474,Rare neurologic disease +GARD:0017684,GARD:0022531,GARD:0021878,GARD:0018478,Rare genetic disease +GARD:0017684,GARD:0022531,GARD:0021284,GARD:0018474,Rare genetic disease +GARD:0017684,GARD:0022524,GARD:0021261,GARD:0018475,Rare neurologic disease +GARD:0017684,GARD:0022524,GARD:0012959,GARD:0018479,Rare neurologic disease +GARD:0017684,GARD:0022524,GARD:0019484,GARD:0018477,Rare neurologic disease +GARD:0017684,GARD:0022524,GARD:0019484,GARD:0018476,Rare neurologic disease +GARD:0017684,GARD:0022531,GARD:0021039,GARD:0018480,Rare genetic disease +GARD:0017684,GARD:0022531,GARD:0021039,GARD:0018474,Rare genetic disease +GARD:0017684,GARD:0022531,GARD:0021039,GARD:0018479,Rare genetic disease +GARD:0017684,GARD:0022524,GARD:0012959,GARD:0018476,Rare neurologic disease +GARD:0017684,GARD:0022531,GARD:0021284,GARD:0018475,Rare genetic disease +GARD:0017684,GARD:0022524,GARD:0019484,GARD:0018474,Rare neurologic disease +GARD:0017684,GARD:0022524,GARD:0012959,GARD:0018477,Rare neurologic disease +GARD:0017684,GARD:0022531,GARD:0021284,GARD:0018480,Rare genetic disease +GARD:0017684,GARD:0022531,GARD:0021878,GARD:0018476,Rare genetic disease +GARD:0017684,GARD:0022524,GARD:0012959,GARD:0018475,Rare neurologic disease +GARD:0017684,GARD:0022531,GARD:0021039,GARD:0018475,Rare genetic disease +GARD:0017684,GARD:0022531,GARD:0021284,GARD:0018477,Rare genetic disease +GARD:0017684,GARD:0022531,GARD:0021284,GARD:0018476,Rare genetic disease +GARD:0017684,GARD:0022531,GARD:0021878,GARD:0018475,Rare genetic disease +GARD:0017684,GARD:0022531,GARD:0021878,GARD:0018480,Rare genetic disease +GARD:0017684,GARD:0022531,GARD:0021284,GARD:0018478,Rare genetic disease +GARD:0017684,GARD:0022531,GARD:0021878,GARD:0018477,Rare genetic disease +GARD:0017684,GARD:0022524,GARD:0019484,GARD:0018480,Rare neurologic disease +GARD:0017684,GARD:0022524,GARD:0021261,GARD:0018480,Rare neurologic disease +GARD:0017684,GARD:0022524,GARD:0021261,GARD:0018477,Rare neurologic disease +GARD:0017684,GARD:0022524,GARD:0012959,GARD:0018474,Rare neurologic disease +GARD:0017684,GARD:0022531,GARD:0021878,GARD:0018479,Rare genetic disease +GARD:0017684,GARD:0022524,GARD:0012959,GARD:0018480,Rare neurologic disease +GARD:0017684,GARD:0022531,GARD:0021039,GARD:0018477,Rare genetic disease +GARD:0017684,GARD:0022531,GARD:0021039,GARD:0018476,Rare genetic disease +GARD:0017684,GARD:0022524,GARD:0021261,GARD:0018476,Rare neurologic disease +GARD:0017684,GARD:0022524,GARD:0012959,GARD:0018478,Rare neurologic disease +GARD:0017684,GARD:0022524,GARD:0019484,GARD:0018479,Rare neurologic disease +GARD:0017684,GARD:0022531,GARD:0021039,GARD:0018478,Rare genetic disease +GARD:0017684,GARD:0022531,GARD:0021284,GARD:0018479,Rare genetic disease +GARD:0017684,GARD:0022524,GARD:0021261,GARD:0018479,Rare neurologic disease +GARD:0017684,GARD:0022524,GARD:0021261,GARD:0018478,Rare neurologic disease +GARD:0017684,GARD:0022524,GARD:0019484,GARD:0018478,Rare neurologic disease +GARD:0017685,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0017685,GARD:0022508,GARD:0006236,,Rare inborn errors of metabolism +GARD:0017685,GARD:0022531,GARD:0006236,,Rare genetic disease +GARD:0017685,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0017685,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017686,GARD:0022508,GARD:0021352,,Rare inborn errors of metabolism +GARD:0017686,GARD:0022531,GARD:0021352,,Rare genetic disease +GARD:0017687,GARD:0022520,GARD:0022116,,Rare ophthalmic disorder +GARD:0017687,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0017687,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017687,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017687,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017687,GARD:0022531,GARD:0022151,,Rare genetic disease +GARD:0017687,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0017688,GARD:0022531,GARD:0022173,,Rare genetic disease +GARD:0017688,GARD:0022513,GARD:0022092,,Rare developmental defect during embryogenesis +GARD:0017688,GARD:0022520,GARD:0022092,,Rare ophthalmic disorder +GARD:0017689,GARD:0022524,GARD:0018718,,Rare neurologic disease +GARD:0017689,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017689,GARD:0022531,GARD:0018718,,Rare genetic disease +GARD:0017689,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017690,GARD:0022510,GARD:0022386,,Rare skin disease +GARD:0017690,GARD:0022531,GARD:0022386,,Rare genetic disease +GARD:0017691,GARD:0022510,GARD:0022386,,Rare skin disease +GARD:0017691,GARD:0022531,GARD:0022386,,Rare genetic disease +GARD:0017692,GARD:0022531,GARD:0021748,,Rare genetic disease +GARD:0017692,GARD:0022526,GARD:0020055,,Rare odontologic disease +GARD:0017693,GARD:0022531,GARD:0018749,,Rare genetic disease +GARD:0017693,GARD:0022524,GARD:0018749,,Rare neurologic disease +GARD:0017694,GARD:0022524,GARD:0018749,,Rare neurologic disease +GARD:0017694,GARD:0022531,GARD:0018749,,Rare genetic disease +GARD:0017695,GARD:0022522,GARD:0021020,,Rare hematologic disease +GARD:0017695,GARD:0022531,GARD:0021020,,Rare genetic disease +GARD:0017696,GARD:0022523,GARD:0021636,,Rare immune disease +GARD:0017696,GARD:0022536,GARD:0021636,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017696,GARD:0022531,GARD:0021636,,Rare genetic disease +GARD:0017697,GARD:0022531,GARD:0021803,,Rare genetic disease +GARD:0017697,GARD:0022510,GARD:0021803,,Rare skin disease +GARD:0017697,GARD:0022510,GARD:0019451,,Rare skin disease +GARD:0017697,GARD:0022531,GARD:0019451,,Rare genetic disease +GARD:0017698,GARD:0022523,GARD:0021834,,Rare immune disease +GARD:0017698,GARD:0022536,GARD:0021834,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017698,GARD:0022531,GARD:0021834,,Rare genetic disease +GARD:0017699,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017699,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017699,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017699,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017700,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017700,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017700,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017700,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017701,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017701,GARD:0022524,GARD:0019414,,Rare neurologic disease +GARD:0017701,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017701,GARD:0022536,GARD:0020114,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017701,GARD:0022531,GARD:0019414,,Rare genetic disease +GARD:0017701,GARD:0022531,GARD:0020114,,Rare genetic disease +GARD:0017701,GARD:0022523,GARD:0020114,,Rare immune disease +GARD:0017702,GARD:0022523,GARD:0021834,,Rare immune disease +GARD:0017702,GARD:0022536,GARD:0021834,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017702,GARD:0022531,GARD:0021834,,Rare genetic disease +GARD:0017703,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0017703,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0017703,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0017703,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0017703,GARD:0022531,GARD:0019451,,Rare genetic disease +GARD:0017703,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0017703,GARD:0022510,GARD:0019451,,Rare skin disease +GARD:0017704,GARD:0022513,GARD:0003806,,Rare developmental defect during embryogenesis +GARD:0017704,GARD:0022511,GARD:0003806,,Rare bone disease +GARD:0017704,GARD:0022508,GARD:0003806,,Rare inborn errors of metabolism +GARD:0017704,GARD:0022531,GARD:0003806,,Rare genetic disease +GARD:0017705,GARD:0022531,GARD:0003806,,Rare genetic disease +GARD:0017705,GARD:0022513,GARD:0003806,,Rare developmental defect during embryogenesis +GARD:0017705,GARD:0022508,GARD:0003806,,Rare inborn errors of metabolism +GARD:0017705,GARD:0022511,GARD:0003806,,Rare bone disease +GARD:0017706,GARD:0022524,GARD:0007140,,Rare neurologic disease +GARD:0017706,GARD:0022508,GARD:0021517,,Rare inborn errors of metabolism +GARD:0017706,GARD:0022531,GARD:0007140,,Rare genetic disease +GARD:0017706,GARD:0022531,GARD:0021517,,Rare genetic disease +GARD:0017707,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0017707,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0017707,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0017707,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0017707,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0017707,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0017707,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0017707,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0017708,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0017708,GARD:0022531,GARD:0021784,,Rare genetic disease +GARD:0017708,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0017709,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0017709,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0017709,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017709,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0017709,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0017709,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0017709,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017709,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017710,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0017710,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0017710,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0017710,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0017710,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017711,GARD:0022531,GARD:0021795,,Rare genetic disease +GARD:0017711,GARD:0022523,GARD:0021795,,Rare immune disease +GARD:0017712,GARD:0022520,GARD:0021797,,Rare ophthalmic disorder +GARD:0017712,GARD:0022524,GARD:0021797,,Rare neurologic disease +GARD:0017712,GARD:0022531,GARD:0021797,,Rare genetic disease +GARD:0017713,GARD:0022531,GARD:0020289,,Rare genetic disease +GARD:0017713,GARD:0022511,GARD:0018892,,Rare bone disease +GARD:0017713,GARD:0022535,GARD:0018892,,Rare neoplastic disease +GARD:0017714,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0017714,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0017715,GARD:0022531,GARD:0007140,,Rare genetic disease +GARD:0017715,GARD:0022531,GARD:0019571,,Rare genetic disease +GARD:0017715,GARD:0022524,GARD:0007140,,Rare neurologic disease +GARD:0017716,GARD:0022521,GARD:0012597,,Rare endocrine disease +GARD:0017716,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017716,GARD:0022531,GARD:0012597,,Rare genetic disease +GARD:0017716,GARD:0022510,GARD:0012597,,Rare skin disease +GARD:0017716,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017716,GARD:0022531,GARD:0019571,,Rare genetic disease +GARD:0017716,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017717,GARD:0022531,GARD:0021576,,Rare genetic disease +GARD:0017717,GARD:0022531,GARD:0021567,,Rare genetic disease +GARD:0017717,GARD:0022513,GARD:0021567,,Rare developmental defect during embryogenesis +GARD:0017717,GARD:0022511,GARD:0021567,,Rare bone disease +GARD:0017718,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0017718,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0017719,GARD:0022531,GARD:0022117,,Rare genetic disease +GARD:0017719,GARD:0022513,GARD:0022117,,Rare developmental defect during embryogenesis +GARD:0017719,GARD:0022520,GARD:0022117,,Rare ophthalmic disorder +GARD:0017720,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0017720,GARD:0022508,GARD:0021344,,Rare inborn errors of metabolism +GARD:0017720,GARD:0022531,GARD:0021344,,Rare genetic disease +GARD:0017720,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0017721,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017721,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017721,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017722,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0017722,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0017722,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0017722,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0017723,GARD:0022531,GARD:0018771,,Rare genetic disease +GARD:0017723,GARD:0022531,GARD:0012452,,Rare genetic disease +GARD:0017723,GARD:0022508,GARD:0018771,,Rare inborn errors of metabolism +GARD:0017723,GARD:0022524,GARD:0012452,,Rare neurologic disease +GARD:0017724,GARD:0022531,GARD:0022441,GARD:0013136,Rare genetic disease +GARD:0017724,GARD:0022524,GARD:0019832,GARD:0013136,Rare neurologic disease +GARD:0017724,GARD:0022513,GARD:0019832,GARD:0013379,Rare developmental defect during embryogenesis +GARD:0017724,GARD:0022513,GARD:0019832,GARD:0013136,Rare developmental defect during embryogenesis +GARD:0017724,GARD:0022524,GARD:0019832,GARD:0013379,Rare neurologic disease +GARD:0017724,GARD:0022531,GARD:0022441,GARD:0013379,Rare genetic disease +GARD:0017725,GARD:0022531,GARD:0021453,,Rare genetic disease +GARD:0017725,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0017725,GARD:0022531,GARD:0022488,,Rare genetic disease +GARD:0017725,GARD:0022525,GARD:0021453,,Rare systemic or rheumatologic disease +GARD:0017725,GARD:0021079,GARD:0021453,,Rare systemic or rheumatological disease of childhood +GARD:0017725,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0017726,GARD:0022531,GARD:0018873,,Rare genetic disease +GARD:0017726,GARD:0022522,GARD:0018873,,Rare hematologic disease +GARD:0017727,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017727,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0017727,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0017727,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017727,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017727,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017727,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0017727,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0017727,GARD:0022531,GARD:0020012,,Rare genetic disease +GARD:0017727,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0017727,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017727,GARD:0022521,GARD:0019146,,Rare endocrine disease +GARD:0017727,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017727,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0017727,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0017727,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017728,GARD:0022531,GARD:0020214,GARD:0018484,Rare genetic disease +GARD:0017728,GARD:0022531,GARD:0021992,GARD:0018484,Rare genetic disease +GARD:0017728,GARD:0022521,GARD:0019294,GARD:0018483,Rare endocrine disease +GARD:0017728,GARD:0022531,GARD:0021992,GARD:0018483,Rare genetic disease +GARD:0017728,GARD:0022531,GARD:0020214,GARD:0018483,Rare genetic disease +GARD:0017728,GARD:0022521,GARD:0020214,GARD:0018483,Rare endocrine disease +GARD:0017728,GARD:0022521,GARD:0019294,GARD:0018484,Rare endocrine disease +GARD:0017728,GARD:0022514,GARD:0019294,GARD:0018483,Rare gynecologic or obstetric disease +GARD:0017728,GARD:0022521,GARD:0020214,GARD:0018484,Rare endocrine disease +GARD:0017728,GARD:0022514,GARD:0019294,GARD:0018484,Rare gynecologic or obstetric disease +GARD:0017729,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0017729,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0017730,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0017730,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0017730,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017730,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017730,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017731,GARD:0022531,GARD:0019860,,Rare genetic disease +GARD:0017731,GARD:0022531,GARD:0021510,,Rare genetic disease +GARD:0017731,GARD:0022523,GARD:0021510,,Rare immune disease +GARD:0017731,GARD:0022534,GARD:0019860,,Rare abdominal surgical disease +GARD:0017731,GARD:0022536,GARD:0019860,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017731,GARD:0022513,GARD:0019860,,Rare developmental defect during embryogenesis +GARD:0017731,GARD:0022536,GARD:0022063,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017732,GARD:0022536,GARD:0022063,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017732,GARD:0022531,GARD:0021795,,Rare genetic disease +GARD:0017732,GARD:0022523,GARD:0021795,,Rare immune disease +GARD:0017733,GARD:0022531,GARD:0021821,,Rare genetic disease +GARD:0017733,GARD:0022508,GARD:0021821,,Rare inborn errors of metabolism +GARD:0017734,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0017734,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017734,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0017734,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017735,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0017735,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0017735,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0017736,GARD:0022513,GARD:0019904,,Rare developmental defect during embryogenesis +GARD:0017736,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017736,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0017736,GARD:0022531,GARD:0021543,,Rare genetic disease +GARD:0017736,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0017736,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0017736,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017736,GARD:0022513,GARD:0019906,,Rare developmental defect during embryogenesis +GARD:0017736,GARD:0022510,GARD:0019017,,Rare skin disease +GARD:0017736,GARD:0022531,GARD:0019017,,Rare genetic disease +GARD:0017736,GARD:0022531,GARD:0019904,,Rare genetic disease +GARD:0017736,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017736,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0017736,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017736,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017737,GARD:0022535,GARD:0020633,,Rare neoplastic disease +GARD:0017737,GARD:0022536,GARD:0022148,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017737,GARD:0022523,GARD:0020633,,Rare immune disease +GARD:0017737,GARD:0022536,GARD:0020633,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017737,GARD:0022522,GARD:0005870,,Rare hematologic disease +GARD:0017737,GARD:0021079,GARD:0021082,,Rare systemic or rheumatological disease of childhood +GARD:0017737,GARD:0022522,GARD:0018906,,Rare hematologic disease +GARD:0017737,GARD:0022531,GARD:0020633,,Rare genetic disease +GARD:0017737,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0017737,GARD:0022516,GARD:0022148,,Rare gastroenterologic disease +GARD:0017737,GARD:0022531,GARD:0022148,,Rare genetic disease +GARD:0017738,GARD:0022522,GARD:0020539,,Rare hematologic disease +GARD:0017738,GARD:0022531,GARD:0020539,,Rare genetic disease +GARD:0017739,GARD:0022513,GARD:0019832,GARD:0017740,Rare developmental defect during embryogenesis +GARD:0017739,GARD:0022524,GARD:0019832,GARD:0021383,Rare neurologic disease +GARD:0017739,GARD:0022513,GARD:0019832,GARD:0021383,Rare developmental defect during embryogenesis +GARD:0017739,GARD:0022524,GARD:0019832,GARD:0017740,Rare neurologic disease +GARD:0017739,GARD:0022531,GARD:0022441,GARD:0017740,Rare genetic disease +GARD:0017739,GARD:0022531,GARD:0022441,GARD:0021383,Rare genetic disease +GARD:0017740,GARD:0022513,GARD:0017739,,Rare developmental defect during embryogenesis +GARD:0017740,GARD:0022531,GARD:0017739,,Rare genetic disease +GARD:0017740,GARD:0022524,GARD:0017739,,Rare neurologic disease +GARD:0017741,GARD:0022525,GARD:0018676,GARD:0008344,Rare systemic or rheumatologic disease +GARD:0017741,GARD:0022524,GARD:0019484,GARD:0009169,Rare neurologic disease +GARD:0017741,GARD:0022525,GARD:0018676,GARD:0009169,Rare systemic or rheumatologic disease +GARD:0017741,GARD:0022531,GARD:0006611,GARD:0009169,Rare genetic disease +GARD:0017741,GARD:0022536,GARD:0018676,GARD:0009169,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017741,GARD:0022531,GARD:0006611,GARD:0008344,Rare genetic disease +GARD:0017741,GARD:0022524,GARD:0019484,GARD:0008344,Rare neurologic disease +GARD:0017741,GARD:0022536,GARD:0018676,GARD:0008344,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017741,GARD:0022531,GARD:0021039,GARD:0008344,Rare genetic disease +GARD:0017741,GARD:0022531,GARD:0021039,GARD:0009169,Rare genetic disease +GARD:0017742,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017742,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017742,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017743,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0017743,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0017743,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017743,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0017743,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0017743,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0017743,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0017743,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0017743,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0017743,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0017743,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0017743,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0017743,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0017743,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0017743,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0017743,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0017744,GARD:0022517,GARD:0020936,,Rare respiratory disease +GARD:0017744,GARD:0022536,GARD:0020936,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017744,GARD:0022531,GARD:0020944,,Rare genetic disease +GARD:0017745,GARD:0022517,GARD:0019746,,Rare respiratory disease +GARD:0017745,GARD:0022531,GARD:0019746,,Rare genetic disease +GARD:0017745,GARD:0022536,GARD:0019746,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017746,GARD:0022531,GARD:0019746,,Rare genetic disease +GARD:0017746,GARD:0022536,GARD:0019746,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017746,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0017746,GARD:0022531,GARD:0020005,,Rare genetic disease +GARD:0017746,GARD:0022517,GARD:0019746,,Rare respiratory disease +GARD:0017747,GARD:0022531,GARD:0018962,,Rare genetic disease +GARD:0017747,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0017747,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0017747,GARD:0022508,GARD:0018962,,Rare inborn errors of metabolism +GARD:0017748,GARD:0022531,GARD:0020030,,Rare genetic disease +GARD:0017748,GARD:0022522,GARD:0022522,,Rare hematologic disease +GARD:0017749,GARD:0022508,GARD:0007433,,Rare inborn errors of metabolism +GARD:0017749,GARD:0022506,GARD:0007433,,Rare hepatic disease +GARD:0017749,GARD:0022531,GARD:0007433,,Rare genetic disease +GARD:0017749,GARD:0022512,GARD:0007433,,Rare renal disease +GARD:0017749,GARD:0022510,GARD:0007433,,Rare skin disease +GARD:0017750,GARD:0022510,GARD:0007433,,Rare skin disease +GARD:0017750,GARD:0022508,GARD:0007433,,Rare inborn errors of metabolism +GARD:0017750,GARD:0022531,GARD:0007433,,Rare genetic disease +GARD:0017750,GARD:0022512,GARD:0007433,,Rare renal disease +GARD:0017750,GARD:0022506,GARD:0007433,,Rare hepatic disease +GARD:0017751,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0017751,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0017752,GARD:0022531,GARD:0021848,,Rare genetic disease +GARD:0017752,GARD:0022532,GARD:0021848,,Rare urogenital disease +GARD:0017752,GARD:0022536,GARD:0021848,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017752,GARD:0022513,GARD:0021848,,Rare developmental defect during embryogenesis +GARD:0017752,GARD:0022521,GARD:0021848,,Rare endocrine disease +GARD:0017753,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017753,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0017753,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017753,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0017753,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017753,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0017754,GARD:0022524,GARD:0005023,,Rare neurologic disease +GARD:0017754,GARD:0022521,GARD:0005023,,Rare endocrine disease +GARD:0017755,GARD:0022510,GARD:0010353,,Rare skin disease +GARD:0017755,GARD:0022531,GARD:0010353,,Rare genetic disease +GARD:0017755,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0017755,GARD:0022508,GARD:0010353,,Rare inborn errors of metabolism +GARD:0017755,GARD:0022512,GARD:0010353,,Rare renal disease +GARD:0017755,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0017756,GARD:0022524,GARD:0005023,,Rare neurologic disease +GARD:0017756,GARD:0022521,GARD:0005023,,Rare endocrine disease +GARD:0017757,GARD:0022512,GARD:0019228,,Rare renal disease +GARD:0017757,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0017757,GARD:0022531,GARD:0019228,,Rare genetic disease +GARD:0017757,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0017757,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017758,GARD:0022513,GARD:0019980,,Rare developmental defect during embryogenesis +GARD:0017758,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017758,GARD:0022531,GARD:0019980,,Rare genetic disease +GARD:0017758,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017758,GARD:0022531,GARD:0021987,,Rare genetic disease +GARD:0017758,GARD:0022511,GARD:0019980,,Rare bone disease +GARD:0017758,GARD:0022528,GARD:0019980,,Rare otorhinolaryngologic disease +GARD:0017758,GARD:0022507,GARD:0019980,,Rare maxillo-facial surgical disease +GARD:0017758,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017758,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0017759,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017759,GARD:0022536,GARD:0020521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017759,GARD:0022531,GARD:0020521,,Rare genetic disease +GARD:0017759,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017759,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017759,GARD:0022515,GARD:0020521,,Rare cardiac disease +GARD:0017759,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017759,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017759,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017760,GARD:0022531,GARD:0021463,,Rare genetic disease +GARD:0017760,GARD:0022529,GARD:0021683,,Rare infertility +GARD:0017760,GARD:0022531,GARD:0021992,,Rare genetic disease +GARD:0017760,GARD:0022531,GARD:0021683,,Rare genetic disease +GARD:0017760,GARD:0022521,GARD:0019294,,Rare endocrine disease +GARD:0017760,GARD:0022514,GARD:0019408,,Rare gynecologic or obstetric disease +GARD:0017760,GARD:0022532,GARD:0021463,,Rare urogenital disease +GARD:0017760,GARD:0022514,GARD:0019294,,Rare gynecologic or obstetric disease +GARD:0017760,GARD:0022531,GARD:0019408,,Rare genetic disease +GARD:0017760,GARD:0022521,GARD:0021463,,Rare endocrine disease +GARD:0017760,GARD:0022513,GARD:0021463,,Rare developmental defect during embryogenesis +GARD:0017761,GARD:0022531,GARD:0021748,,Rare genetic disease +GARD:0017761,GARD:0022526,GARD:0020055,,Rare odontologic disease +GARD:0017761,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017761,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017761,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0017761,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017761,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0017761,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0017762,GARD:0022531,GARD:0022290,,Rare genetic disease +GARD:0017762,GARD:0022512,GARD:0022290,,Rare renal disease +GARD:0017762,GARD:0022531,GARD:0021018,,Rare genetic disease +GARD:0017762,GARD:0021079,GARD:0021082,,Rare systemic or rheumatological disease of childhood +GARD:0017762,GARD:0022531,GARD:0020944,,Rare genetic disease +GARD:0017762,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0017762,GARD:0022536,GARD:0022290,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017762,GARD:0022536,GARD:0020926,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017762,GARD:0022517,GARD:0020926,,Rare respiratory disease +GARD:0017763,GARD:0022524,GARD:0019771,,Rare neurologic disease +GARD:0017763,GARD:0022531,GARD:0019771,,Rare genetic disease +GARD:0017764,GARD:0022510,GARD:0018768,,Rare skin disease +GARD:0017764,GARD:0022531,GARD:0018768,,Rare genetic disease +GARD:0017764,GARD:0022531,GARD:0021104,,Rare genetic disease +GARD:0017764,GARD:0022510,GARD:0021104,,Rare skin disease +GARD:0017765,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017765,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017766,GARD:0021079,GARD:0021082,,Rare systemic or rheumatological disease of childhood +GARD:0017766,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0017766,GARD:0022523,GARD:0020116,,Rare immune disease +GARD:0017766,GARD:0022531,GARD:0020116,,Rare genetic disease +GARD:0017766,GARD:0022536,GARD:0020116,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017767,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017767,GARD:0022531,GARD:0012966,,Rare genetic disease +GARD:0017767,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017767,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0017767,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0017767,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017767,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017767,GARD:0022508,GARD:0012966,,Rare inborn errors of metabolism +GARD:0017768,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017768,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017768,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017768,GARD:0022521,GARD:0020217,,Rare endocrine disease +GARD:0017768,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0017768,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0017768,GARD:0022531,GARD:0020312,,Rare genetic disease +GARD:0017769,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017769,GARD:0022531,GARD:0021340,,Rare genetic disease +GARD:0017769,GARD:0022531,GARD:0020402,,Rare genetic disease +GARD:0017769,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0017769,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017769,GARD:0022508,GARD:0021340,,Rare inborn errors of metabolism +GARD:0017769,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0017770,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017770,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017770,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017770,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017771,GARD:0022508,GARD:0020752,,Rare inborn errors of metabolism +GARD:0017771,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017771,GARD:0022531,GARD:0020752,,Rare genetic disease +GARD:0017771,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017772,GARD:0022516,GARD:0008532,GARD:0018486,Rare gastroenterologic disease +GARD:0017772,GARD:0022531,GARD:0008532,GARD:0018485,Rare genetic disease +GARD:0017772,GARD:0022516,GARD:0008532,GARD:0018485,Rare gastroenterologic disease +GARD:0017772,GARD:0022536,GARD:0008532,GARD:0018486,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017772,GARD:0022531,GARD:0008532,GARD:0018486,Rare genetic disease +GARD:0017772,GARD:0022535,GARD:0008532,GARD:0018486,Rare neoplastic disease +GARD:0017772,GARD:0022535,GARD:0008532,GARD:0018485,Rare neoplastic disease +GARD:0017772,GARD:0022536,GARD:0008532,GARD:0018485,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017773,GARD:0022531,GARD:0021140,,Rare genetic disease +GARD:0017773,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0017773,GARD:0022531,GARD:0021010,,Rare genetic disease +GARD:0017773,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0017773,GARD:0022524,GARD:0021140,,Rare neurologic disease +GARD:0017774,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0017774,GARD:0022531,GARD:0021140,,Rare genetic disease +GARD:0017774,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0017774,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0017774,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0017774,GARD:0022524,GARD:0021140,,Rare neurologic disease +GARD:0017775,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017775,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017775,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017775,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017775,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017775,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017775,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017776,GARD:0022531,GARD:0020269,,Rare genetic disease +GARD:0017776,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0017776,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0017776,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0017776,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0017776,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0017776,GARD:0022510,GARD:0019003,,Rare skin disease +GARD:0017776,GARD:0022510,GARD:0021293,,Rare skin disease +GARD:0017776,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0017776,GARD:0022531,GARD:0021987,,Rare genetic disease +GARD:0017776,GARD:0022531,GARD:0018936,,Rare genetic disease +GARD:0017776,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0017776,GARD:0022531,GARD:0021293,,Rare genetic disease +GARD:0017777,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0017777,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0017778,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0017778,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0017778,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0017778,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0017778,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0017779,GARD:0022524,GARD:0020360,,Rare neurologic disease +GARD:0017779,GARD:0022531,GARD:0020360,,Rare genetic disease +GARD:0017780,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017780,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017780,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017781,GARD:0022531,GARD:0021295,GARD:0018487,Rare genetic disease +GARD:0017781,GARD:0022510,GARD:0021295,GARD:0018488,Rare skin disease +GARD:0017781,GARD:0022531,GARD:0021295,GARD:0018488,Rare genetic disease +GARD:0017781,GARD:0022510,GARD:0021295,GARD:0018487,Rare skin disease +GARD:0017782,GARD:0022513,GARD:0018685,,Rare developmental defect during embryogenesis +GARD:0017782,GARD:0022531,GARD:0018685,,Rare genetic disease +GARD:0017782,GARD:0022511,GARD:0018685,,Rare bone disease +GARD:0017783,GARD:0022514,GARD:0019294,,Rare gynecologic or obstetric disease +GARD:0017783,GARD:0022521,GARD:0019294,,Rare endocrine disease +GARD:0017783,GARD:0022531,GARD:0021992,,Rare genetic disease +GARD:0017784,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0017784,GARD:0022531,GARD:0021810,,Rare genetic disease +GARD:0017784,GARD:0022531,GARD:0022164,,Rare genetic disease +GARD:0017784,GARD:0022520,GARD:0019511,,Rare ophthalmic disorder +GARD:0017784,GARD:0022513,GARD:0019511,,Rare developmental defect during embryogenesis +GARD:0017784,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0017785,GARD:0022511,GARD:0019208,GARD:0013418,Rare bone disease +GARD:0017785,GARD:0022531,GARD:0022441,GARD:0021526,Rare genetic disease +GARD:0017785,GARD:0022531,GARD:0019208,GARD:0013418,Rare genetic disease +GARD:0017785,GARD:0022531,GARD:0019208,GARD:0021526,Rare genetic disease +GARD:0017785,GARD:0022531,GARD:0020003,GARD:0013418,Rare genetic disease +GARD:0017785,GARD:0022513,GARD:0019832,GARD:0013418,Rare developmental defect during embryogenesis +GARD:0017785,GARD:0022513,GARD:0020003,GARD:0021526,Rare developmental defect during embryogenesis +GARD:0017785,GARD:0022531,GARD:0022441,GARD:0013418,Rare genetic disease +GARD:0017785,GARD:0022524,GARD:0019832,GARD:0021526,Rare neurologic disease +GARD:0017785,GARD:0022531,GARD:0020003,GARD:0021526,Rare genetic disease +GARD:0017785,GARD:0022519,GARD:0020003,GARD:0013418,Rare surgical cardiac disease +GARD:0017785,GARD:0022513,GARD:0019832,GARD:0021526,Rare developmental defect during embryogenesis +GARD:0017785,GARD:0022511,GARD:0019208,GARD:0021526,Rare bone disease +GARD:0017785,GARD:0022519,GARD:0020003,GARD:0021526,Rare surgical cardiac disease +GARD:0017785,GARD:0022513,GARD:0019208,GARD:0013418,Rare developmental defect during embryogenesis +GARD:0017785,GARD:0022524,GARD:0019832,GARD:0013418,Rare neurologic disease +GARD:0017785,GARD:0022513,GARD:0019208,GARD:0021526,Rare developmental defect during embryogenesis +GARD:0017785,GARD:0022513,GARD:0020003,GARD:0013418,Rare developmental defect during embryogenesis +GARD:0017786,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017786,GARD:0022531,GARD:0019412,,Rare genetic disease +GARD:0017786,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017786,GARD:0022524,GARD:0019412,,Rare neurologic disease +GARD:0017787,GARD:0022521,GARD:0020217,,Rare endocrine disease +GARD:0017787,GARD:0022529,GARD:0020219,,Rare infertility +GARD:0017787,GARD:0022524,GARD:0019925,,Rare neurologic disease +GARD:0017787,GARD:0022521,GARD:0020219,,Rare endocrine disease +GARD:0017787,GARD:0022531,GARD:0020137,,Rare genetic disease +GARD:0017787,GARD:0022531,GARD:0019925,,Rare genetic disease +GARD:0017787,GARD:0022521,GARD:0020137,,Rare endocrine disease +GARD:0017787,GARD:0022514,GARD:0020219,,Rare gynecologic or obstetric disease +GARD:0017787,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017787,GARD:0022531,GARD:0020219,,Rare genetic disease +GARD:0017787,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017788,GARD:0022524,GARD:0022328,GARD:0022329,Rare neurologic disease +GARD:0017788,GARD:0022524,GARD:0021267,GARD:0009550,Rare neurologic disease +GARD:0017788,GARD:0022524,GARD:0021267,GARD:0022329,Rare neurologic disease +GARD:0017788,GARD:0022524,GARD:0022328,GARD:0009550,Rare neurologic disease +GARD:0017789,GARD:0022535,GARD:0017274,,Rare neoplastic disease +GARD:0017789,GARD:0022516,GARD:0017274,,Rare gastroenterologic disease +GARD:0017790,GARD:0022535,GARD:0008532,,Rare neoplastic disease +GARD:0017790,GARD:0022516,GARD:0008532,,Rare gastroenterologic disease +GARD:0017790,GARD:0022536,GARD:0008532,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017790,GARD:0022531,GARD:0008532,,Rare genetic disease +GARD:0017791,GARD:0022531,GARD:0019925,,Rare genetic disease +GARD:0017791,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017791,GARD:0022516,GARD:0019787,,Rare gastroenterologic disease +GARD:0017791,GARD:0022524,GARD:0019925,,Rare neurologic disease +GARD:0017791,GARD:0022531,GARD:0020137,,Rare genetic disease +GARD:0017791,GARD:0022521,GARD:0020137,,Rare endocrine disease +GARD:0017791,GARD:0022531,GARD:0020062,,Rare genetic disease +GARD:0017791,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017791,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017791,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017791,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017791,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017792,GARD:0022531,GARD:0020401,,Rare genetic disease +GARD:0017792,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017792,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0017792,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0017792,GARD:0022524,GARD:0000101,,Rare neurologic disease +GARD:0017792,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0017792,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017792,GARD:0022531,GARD:0020915,,Rare genetic disease +GARD:0017792,GARD:0022531,GARD:0000101,,Rare genetic disease +GARD:0017792,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0017792,GARD:0022513,GARD:0020915,,Rare developmental defect during embryogenesis +GARD:0017793,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017793,GARD:0022531,GARD:0018973,,Rare genetic disease +GARD:0017793,GARD:0022524,GARD:0020370,,Rare neurologic disease +GARD:0017793,GARD:0022508,GARD:0018973,,Rare inborn errors of metabolism +GARD:0017793,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017793,GARD:0022531,GARD:0020370,,Rare genetic disease +GARD:0017794,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0017794,GARD:0022508,GARD:0020760,,Rare inborn errors of metabolism +GARD:0017794,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0017794,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017794,GARD:0022531,GARD:0020760,,Rare genetic disease +GARD:0017794,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017795,GARD:0022523,GARD:0020322,,Rare immune disease +GARD:0017795,GARD:0022531,GARD:0020322,,Rare genetic disease +GARD:0017796,GARD:0022508,GARD:0010423,,Rare inborn errors of metabolism +GARD:0017796,GARD:0022515,GARD:0020521,,Rare cardiac disease +GARD:0017796,GARD:0022524,GARD:0010423,,Rare neurologic disease +GARD:0017796,GARD:0022531,GARD:0010423,,Rare genetic disease +GARD:0017796,GARD:0022531,GARD:0020521,,Rare genetic disease +GARD:0017796,GARD:0022536,GARD:0020521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017797,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0017797,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0017797,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0017797,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017797,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017797,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017798,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017798,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017798,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017798,GARD:0022531,GARD:0021286,,Rare genetic disease +GARD:0017798,GARD:0022524,GARD:0021269,,Rare neurologic disease +GARD:0017799,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017799,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017799,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017799,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017799,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017800,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0017800,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017800,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017800,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017800,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0017801,GARD:0022531,GARD:0007140,,Rare genetic disease +GARD:0017801,GARD:0022524,GARD:0007140,,Rare neurologic disease +GARD:0017802,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017802,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017802,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017803,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0017803,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017803,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0017803,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017803,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017803,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0017804,GARD:0022520,GARD:0022116,,Rare ophthalmic disorder +GARD:0017804,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017804,GARD:0022531,GARD:0022151,,Rare genetic disease +GARD:0017804,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017804,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017804,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017804,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017805,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017805,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017805,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0017805,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0017805,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017806,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017806,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017806,GARD:0022531,GARD:0020559,,Rare genetic disease +GARD:0017806,GARD:0022524,GARD:0020559,,Rare neurologic disease +GARD:0017806,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0017806,GARD:0022508,GARD:0018965,,Rare inborn errors of metabolism +GARD:0017806,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0017806,GARD:0022531,GARD:0018965,,Rare genetic disease +GARD:0017807,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0017807,GARD:0022531,GARD:0021544,,Rare genetic disease +GARD:0017807,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0017807,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0017808,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017808,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0017808,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017808,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0017808,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0017808,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0017808,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017808,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0017809,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0017809,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0017809,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0017809,GARD:0022524,GARD:0012632,,Rare neurologic disease +GARD:0017809,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0017809,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0017809,GARD:0022531,GARD:0012632,,Rare genetic disease +GARD:0017809,GARD:0022508,GARD:0012632,,Rare inborn errors of metabolism +GARD:0017809,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0017810,GARD:0022524,GARD:0019253,,Rare neurologic disease +GARD:0017810,GARD:0022531,GARD:0019253,,Rare genetic disease +GARD:0017811,GARD:0022524,GARD:0019253,,Rare neurologic disease +GARD:0017811,GARD:0022531,GARD:0019570,,Rare genetic disease +GARD:0017811,GARD:0022531,GARD:0019253,,Rare genetic disease +GARD:0017812,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0017812,GARD:0022531,GARD:0019186,,Rare genetic disease +GARD:0017812,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0017812,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0017813,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017813,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017813,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017813,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017814,GARD:0022511,GARD:0019207,,Rare bone disease +GARD:0017814,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017814,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0017814,GARD:0022513,GARD:0019207,,Rare developmental defect during embryogenesis +GARD:0017814,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017814,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017814,GARD:0022531,GARD:0019207,,Rare genetic disease +GARD:0017814,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0017815,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0017815,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017815,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017815,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0017815,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0017815,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0017815,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0017815,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0017815,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017816,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017816,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017816,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017816,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017816,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0017816,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017816,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0017817,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0017817,GARD:0022511,GARD:0019194,,Rare bone disease +GARD:0017817,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017817,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0017817,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0017817,GARD:0022531,GARD:0019194,,Rare genetic disease +GARD:0017817,GARD:0022513,GARD:0019194,,Rare developmental defect during embryogenesis +GARD:0017817,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017817,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017818,GARD:0022531,GARD:0016822,,Rare genetic disease +GARD:0017818,GARD:0022511,GARD:0016822,,Rare bone disease +GARD:0017818,GARD:0022531,GARD:0021544,,Rare genetic disease +GARD:0017818,GARD:0022513,GARD:0016822,,Rare developmental defect during embryogenesis +GARD:0017818,GARD:0022517,GARD:0020248,,Rare respiratory disease +GARD:0017819,GARD:0022531,GARD:0018749,,Rare genetic disease +GARD:0017819,GARD:0022524,GARD:0018749,,Rare neurologic disease +GARD:0017820,GARD:0022531,GARD:0020005,GARD:0013113,Rare genetic disease +GARD:0017820,GARD:0022506,GARD:0019789,GARD:0013113,Rare hepatic disease +GARD:0017820,GARD:0022531,GARD:0020005,GARD:0016483,Rare genetic disease +GARD:0017820,GARD:0022506,GARD:0019789,GARD:0016483,Rare hepatic disease +GARD:0017821,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017821,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017821,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0017821,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017821,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0017822,GARD:0022520,GARD:0022112,,Rare ophthalmic disorder +GARD:0017822,GARD:0022531,GARD:0022154,,Rare genetic disease +GARD:0017822,GARD:0022513,GARD:0022112,,Rare developmental defect during embryogenesis +GARD:0017823,GARD:0022531,GARD:0021728,,Rare genetic disease +GARD:0017823,GARD:0022513,GARD:0019871,,Rare developmental defect during embryogenesis +GARD:0017824,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0017824,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0017824,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0017824,GARD:0022531,GARD:0021010,,Rare genetic disease +GARD:0017824,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017824,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0017824,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017824,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0017824,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017825,GARD:0022521,GARD:0021971,,Rare endocrine disease +GARD:0017825,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0017825,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0017825,GARD:0022508,GARD:0021971,,Rare inborn errors of metabolism +GARD:0017825,GARD:0022531,GARD:0021971,,Rare genetic disease +GARD:0017826,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0017826,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0017827,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017827,GARD:0022524,GARD:0021431,,Rare neurologic disease +GARD:0017827,GARD:0022531,GARD:0021431,,Rare genetic disease +GARD:0017827,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017827,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017827,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017828,GARD:0022527,GARD:0019270,GARD:0018490,Rare circulatory system disease +GARD:0017828,GARD:0022527,GARD:0019270,GARD:0018489,Rare circulatory system disease +GARD:0017828,GARD:0022527,GARD:0019270,GARD:0007342,Rare circulatory system disease +GARD:0017828,GARD:0022513,GARD:0019270,GARD:0018489,Rare developmental defect during embryogenesis +GARD:0017828,GARD:0022513,GARD:0019270,GARD:0018490,Rare developmental defect during embryogenesis +GARD:0017828,GARD:0022531,GARD:0021016,GARD:0018489,Rare genetic disease +GARD:0017828,GARD:0022513,GARD:0019270,GARD:0007342,Rare developmental defect during embryogenesis +GARD:0017828,GARD:0022519,GARD:0019270,GARD:0007342,Rare surgical cardiac disease +GARD:0017828,GARD:0022531,GARD:0020459,GARD:0018490,Rare genetic disease +GARD:0017828,GARD:0022531,GARD:0020459,GARD:0007342,Rare genetic disease +GARD:0017828,GARD:0022531,GARD:0021016,GARD:0007342,Rare genetic disease +GARD:0017828,GARD:0022519,GARD:0019270,GARD:0018490,Rare surgical cardiac disease +GARD:0017828,GARD:0022531,GARD:0020459,GARD:0018489,Rare genetic disease +GARD:0017828,GARD:0022531,GARD:0021016,GARD:0018490,Rare genetic disease +GARD:0017828,GARD:0022519,GARD:0019270,GARD:0018489,Rare surgical cardiac disease +GARD:0017829,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0017829,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0017830,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0017830,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0017831,GARD:0022508,GARD:0020762,,Rare inborn errors of metabolism +GARD:0017831,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017831,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017831,GARD:0022531,GARD:0020762,,Rare genetic disease +GARD:0017832,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017832,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017832,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017833,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017833,GARD:0022531,GARD:0020005,,Rare genetic disease +GARD:0017833,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0017833,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017833,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0017833,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0017833,GARD:0022531,GARD:0019416,,Rare genetic disease +GARD:0017833,GARD:0022524,GARD:0019416,,Rare neurologic disease +GARD:0017834,GARD:0022531,GARD:0020526,,Rare genetic disease +GARD:0017834,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0017834,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0017834,GARD:0022515,GARD:0020526,,Rare cardiac disease +GARD:0017834,GARD:0022536,GARD:0020526,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017835,GARD:0022531,GARD:0021968,GARD:0018492,Rare genetic disease +GARD:0017835,GARD:0022522,GARD:0021968,GARD:0018491,Rare hematologic disease +GARD:0017835,GARD:0022522,GARD:0021968,GARD:0018492,Rare hematologic disease +GARD:0017835,GARD:0022531,GARD:0021968,GARD:0018491,Rare genetic disease +GARD:0017836,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017836,GARD:0022524,GARD:0021604,,Rare neurologic disease +GARD:0017836,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017836,GARD:0022531,GARD:0021604,,Rare genetic disease +GARD:0017836,GARD:0022531,GARD:0021337,,Rare genetic disease +GARD:0017836,GARD:0022508,GARD:0021337,,Rare inborn errors of metabolism +GARD:0017837,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017837,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017837,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0017837,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0017838,GARD:0022524,GARD:0019832,GARD:0017839,Rare neurologic disease +GARD:0017838,GARD:0022513,GARD:0019832,GARD:0017311,Rare developmental defect during embryogenesis +GARD:0017838,GARD:0022531,GARD:0022441,GARD:0017839,Rare genetic disease +GARD:0017838,GARD:0022531,GARD:0022441,GARD:0017311,Rare genetic disease +GARD:0017838,GARD:0022524,GARD:0019832,GARD:0017311,Rare neurologic disease +GARD:0017838,GARD:0022513,GARD:0019832,GARD:0017839,Rare developmental defect during embryogenesis +GARD:0017839,GARD:0022513,GARD:0017838,,Rare developmental defect during embryogenesis +GARD:0017839,GARD:0022531,GARD:0017838,,Rare genetic disease +GARD:0017839,GARD:0022524,GARD:0017838,,Rare neurologic disease +GARD:0017840,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0017840,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0017840,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0017840,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0017840,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0017840,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0017840,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0017841,GARD:0022531,GARD:0021450,,Rare genetic disease +GARD:0017841,GARD:0022524,GARD:0021450,,Rare neurologic disease +GARD:0017841,GARD:0022513,GARD:0021450,,Rare developmental defect during embryogenesis +GARD:0017842,GARD:0022524,GARD:0021797,,Rare neurologic disease +GARD:0017842,GARD:0022520,GARD:0021797,,Rare ophthalmic disorder +GARD:0017842,GARD:0022531,GARD:0021797,,Rare genetic disease +GARD:0017843,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0017843,GARD:0022510,GARD:0019010,,Rare skin disease +GARD:0017843,GARD:0022531,GARD:0021970,,Rare genetic disease +GARD:0017843,GARD:0022531,GARD:0020275,,Rare genetic disease +GARD:0017844,GARD:0022520,GARD:0022082,,Rare ophthalmic disorder +GARD:0017844,GARD:0022513,GARD:0022082,,Rare developmental defect during embryogenesis +GARD:0017844,GARD:0022531,GARD:0022165,,Rare genetic disease +GARD:0017845,GARD:0022508,GARD:0021343,,Rare inborn errors of metabolism +GARD:0017845,GARD:0022521,GARD:0021971,,Rare endocrine disease +GARD:0017845,GARD:0022531,GARD:0021343,,Rare genetic disease +GARD:0017845,GARD:0022531,GARD:0021971,,Rare genetic disease +GARD:0017845,GARD:0022508,GARD:0021971,,Rare inborn errors of metabolism +GARD:0017846,GARD:0022531,GARD:0021358,,Rare genetic disease +GARD:0017846,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017846,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0017846,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017846,GARD:0022531,GARD:0021335,,Rare genetic disease +GARD:0017846,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017846,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0017846,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0017846,GARD:0022508,GARD:0021335,,Rare inborn errors of metabolism +GARD:0017846,GARD:0022508,GARD:0021358,,Rare inborn errors of metabolism +GARD:0017847,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0017847,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0017847,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0017847,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0017848,GARD:0022531,GARD:0021018,,Rare genetic disease +GARD:0017848,GARD:0022525,GARD:0021457,,Rare systemic or rheumatologic disease +GARD:0017848,GARD:0021079,GARD:0021461,,Rare systemic or rheumatological disease of childhood +GARD:0017849,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0017849,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017849,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0017850,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017850,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017850,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017851,GARD:0022531,GARD:0019923,,Rare genetic disease +GARD:0017851,GARD:0022524,GARD:0019923,,Rare neurologic disease +GARD:0017852,GARD:0022516,GARD:0019849,,Rare gastroenterologic disease +GARD:0017852,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0017852,GARD:0022531,GARD:0020060,,Rare genetic disease +GARD:0017852,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017852,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0017852,GARD:0022536,GARD:0019849,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017853,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017853,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017853,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017853,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017854,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017854,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017855,GARD:0022531,GARD:0021962,,Rare genetic disease +GARD:0017855,GARD:0022524,GARD:0021962,,Rare neurologic disease +GARD:0017856,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017856,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017856,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017856,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017856,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017856,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017857,GARD:0022522,GARD:0021020,,Rare hematologic disease +GARD:0017857,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0017857,GARD:0022531,GARD:0020060,,Rare genetic disease +GARD:0017857,GARD:0022531,GARD:0021020,,Rare genetic disease +GARD:0017858,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0017858,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0017858,GARD:0022520,GARD:0022116,,Rare ophthalmic disorder +GARD:0017858,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0017858,GARD:0022531,GARD:0022151,,Rare genetic disease +GARD:0017859,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017859,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017859,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017859,GARD:0022531,GARD:0019923,,Rare genetic disease +GARD:0017859,GARD:0022513,GARD:0020887,,Rare developmental defect during embryogenesis +GARD:0017859,GARD:0022531,GARD:0020887,,Rare genetic disease +GARD:0017859,GARD:0022524,GARD:0019923,,Rare neurologic disease +GARD:0017860,GARD:0022531,GARD:0022021,,Rare genetic disease +GARD:0017860,GARD:0022513,GARD:0022021,,Rare developmental defect during embryogenesis +GARD:0017860,GARD:0022511,GARD:0022021,,Rare bone disease +GARD:0017861,GARD:0022531,GARD:0021422,,Rare genetic disease +GARD:0017861,GARD:0022523,GARD:0021422,,Rare immune disease +GARD:0017862,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017862,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0017862,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0017862,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017862,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0017862,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0017862,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0017862,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017863,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0017863,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0017863,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017863,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017864,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017864,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017864,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017864,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017865,GARD:0022531,GARD:0019399,,Rare genetic disease +GARD:0017865,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017865,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0017865,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017865,GARD:0022515,GARD:0020534,,Rare cardiac disease +GARD:0017865,GARD:0022508,GARD:0018771,,Rare inborn errors of metabolism +GARD:0017865,GARD:0022531,GARD:0018771,,Rare genetic disease +GARD:0017865,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0017866,GARD:0022524,GARD:0019929,,Rare neurologic disease +GARD:0017866,GARD:0022531,GARD:0019929,,Rare genetic disease +GARD:0017867,GARD:0022506,GARD:0015255,,Rare hepatic disease +GARD:0017867,GARD:0022531,GARD:0015255,,Rare genetic disease +GARD:0017867,GARD:0022536,GARD:0015255,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017867,GARD:0022508,GARD:0015255,,Rare inborn errors of metabolism +GARD:0017868,GARD:0022531,GARD:0008532,,Rare genetic disease +GARD:0017868,GARD:0022536,GARD:0008532,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017868,GARD:0022516,GARD:0008532,,Rare gastroenterologic disease +GARD:0017868,GARD:0022535,GARD:0008532,,Rare neoplastic disease +GARD:0017869,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0017869,GARD:0022531,GARD:0021337,,Rare genetic disease +GARD:0017869,GARD:0022508,GARD:0021337,,Rare inborn errors of metabolism +GARD:0017869,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0017870,GARD:0022531,GARD:0021967,,Rare genetic disease +GARD:0017870,GARD:0022536,GARD:0009319,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017870,GARD:0022522,GARD:0009319,,Rare hematologic disease +GARD:0017870,GARD:0022535,GARD:0009319,,Rare neoplastic disease +GARD:0017870,GARD:0022522,GARD:0021967,,Rare hematologic disease +GARD:0017871,GARD:0022520,GARD:0022116,,Rare ophthalmic disorder +GARD:0017871,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017871,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017871,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0017871,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0017871,GARD:0022531,GARD:0022151,,Rare genetic disease +GARD:0017871,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017871,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0017872,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017872,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017872,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017873,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0017873,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0017873,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017873,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017873,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017873,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0017874,GARD:0022531,GARD:0020273,GARD:0018494,Rare genetic disease +GARD:0017874,GARD:0021079,GARD:0021986,GARD:0018493,Rare systemic or rheumatological disease of childhood +GARD:0017874,GARD:0022525,GARD:0020256,GARD:0018494,Rare systemic or rheumatologic disease +GARD:0017874,GARD:0022531,GARD:0020273,GARD:0018493,Rare genetic disease +GARD:0017874,GARD:0022510,GARD:0020043,GARD:0018493,Rare skin disease +GARD:0017874,GARD:0022524,GARD:0021965,GARD:0018494,Rare neurologic disease +GARD:0017874,GARD:0022525,GARD:0021957,GARD:0018493,Rare systemic or rheumatologic disease +GARD:0017874,GARD:0022531,GARD:0021965,GARD:0018494,Rare genetic disease +GARD:0017874,GARD:0022531,GARD:0021957,GARD:0018493,Rare genetic disease +GARD:0017874,GARD:0022524,GARD:0021965,GARD:0018493,Rare neurologic disease +GARD:0017874,GARD:0022531,GARD:0021965,GARD:0018493,Rare genetic disease +GARD:0017874,GARD:0021079,GARD:0021986,GARD:0018494,Rare systemic or rheumatological disease of childhood +GARD:0017874,GARD:0022531,GARD:0021957,GARD:0018494,Rare genetic disease +GARD:0017874,GARD:0022510,GARD:0020043,GARD:0018494,Rare skin disease +GARD:0017874,GARD:0022525,GARD:0020256,GARD:0018493,Rare systemic or rheumatologic disease +GARD:0017874,GARD:0022510,GARD:0019008,GARD:0018494,Rare skin disease +GARD:0017874,GARD:0022525,GARD:0021957,GARD:0018494,Rare systemic or rheumatologic disease +GARD:0017874,GARD:0022510,GARD:0019008,GARD:0018493,Rare skin disease +GARD:0017875,GARD:0022531,GARD:0021957,,Rare genetic disease +GARD:0017875,GARD:0022531,GARD:0018915,,Rare genetic disease +GARD:0017875,GARD:0021079,GARD:0021986,,Rare systemic or rheumatological disease of childhood +GARD:0017875,GARD:0022525,GARD:0021957,,Rare systemic or rheumatologic disease +GARD:0017875,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0017876,GARD:0022524,GARD:0021963,,Rare neurologic disease +GARD:0017876,GARD:0022520,GARD:0000166,,Rare ophthalmic disorder +GARD:0017876,GARD:0022524,GARD:0000166,,Rare neurologic disease +GARD:0017876,GARD:0022531,GARD:0021963,,Rare genetic disease +GARD:0017876,GARD:0022513,GARD:0000166,,Rare developmental defect during embryogenesis +GARD:0017876,GARD:0022531,GARD:0000166,,Rare genetic disease +GARD:0017877,GARD:0022524,GARD:0021988,,Rare neurologic disease +GARD:0017877,GARD:0022531,GARD:0021988,,Rare genetic disease +GARD:0017878,GARD:0022531,GARD:0020362,,Rare genetic disease +GARD:0017878,GARD:0022524,GARD:0020362,,Rare neurologic disease +GARD:0017879,GARD:0022524,GARD:0000166,,Rare neurologic disease +GARD:0017879,GARD:0022520,GARD:0000166,,Rare ophthalmic disorder +GARD:0017879,GARD:0022513,GARD:0000166,,Rare developmental defect during embryogenesis +GARD:0017879,GARD:0022531,GARD:0000166,,Rare genetic disease +GARD:0017880,GARD:0022531,GARD:0022219,,Rare genetic disease +GARD:0017880,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017880,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017881,GARD:0022508,GARD:0022192,,Rare inborn errors of metabolism +GARD:0017881,GARD:0022531,GARD:0022192,,Rare genetic disease +GARD:0017881,GARD:0022524,GARD:0022192,,Rare neurologic disease +GARD:0017882,GARD:0022524,GARD:0019478,GARD:0018495,Rare neurologic disease +GARD:0017882,GARD:0022531,GARD:0019478,GARD:0018495,Rare genetic disease +GARD:0017882,GARD:0022524,GARD:0019478,GARD:0004947,Rare neurologic disease +GARD:0017882,GARD:0022531,GARD:0000777,GARD:0004947,Rare genetic disease +GARD:0017882,GARD:0022531,GARD:0000777,GARD:0018495,Rare genetic disease +GARD:0017882,GARD:0022531,GARD:0019478,GARD:0004947,Rare genetic disease +GARD:0017882,GARD:0022513,GARD:0000777,GARD:0004947,Rare developmental defect during embryogenesis +GARD:0017882,GARD:0022513,GARD:0000777,GARD:0018495,Rare developmental defect during embryogenesis +GARD:0017883,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017883,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017883,GARD:0022531,GARD:0009138,,Rare genetic disease +GARD:0017883,GARD:0022524,GARD:0009138,,Rare neurologic disease +GARD:0017884,GARD:0022513,GARD:0022298,,Rare developmental defect during embryogenesis +GARD:0017884,GARD:0022522,GARD:0021967,,Rare hematologic disease +GARD:0017884,GARD:0022510,GARD:0022298,,Rare skin disease +GARD:0017884,GARD:0022527,GARD:0022298,,Rare circulatory system disease +GARD:0017884,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017884,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017884,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017884,GARD:0022531,GARD:0022298,,Rare genetic disease +GARD:0017884,GARD:0022531,GARD:0021967,,Rare genetic disease +GARD:0017885,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017885,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017885,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017886,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0017886,GARD:0022513,GARD:0018969,,Rare developmental defect during embryogenesis +GARD:0017886,GARD:0022531,GARD:0020260,,Rare genetic disease +GARD:0017886,GARD:0022531,GARD:0018969,,Rare genetic disease +GARD:0017886,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0017886,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0017886,GARD:0022508,GARD:0018969,,Rare inborn errors of metabolism +GARD:0017887,GARD:0022529,GARD:0021718,GARD:0018496,Rare infertility +GARD:0017887,GARD:0022529,GARD:0021718,GARD:0018497,Rare infertility +GARD:0017887,GARD:0022531,GARD:0021718,GARD:0018497,Rare genetic disease +GARD:0017887,GARD:0022531,GARD:0021718,GARD:0018500,Rare genetic disease +GARD:0017887,GARD:0022531,GARD:0021718,GARD:0018498,Rare genetic disease +GARD:0017887,GARD:0022529,GARD:0021718,GARD:0018500,Rare infertility +GARD:0017887,GARD:0022531,GARD:0021718,GARD:0018499,Rare genetic disease +GARD:0017887,GARD:0022529,GARD:0021718,GARD:0018499,Rare infertility +GARD:0017887,GARD:0022529,GARD:0021718,GARD:0018498,Rare infertility +GARD:0017887,GARD:0022531,GARD:0021718,GARD:0018496,Rare genetic disease +GARD:0017888,GARD:0022531,GARD:0016484,,Rare genetic disease +GARD:0017888,GARD:0022520,GARD:0016484,,Rare ophthalmic disorder +GARD:0017888,GARD:0022531,GARD:0022099,,Rare genetic disease +GARD:0017888,GARD:0022513,GARD:0016484,,Rare developmental defect during embryogenesis +GARD:0017888,GARD:0022520,GARD:0022099,,Rare ophthalmic disorder +GARD:0017889,GARD:0022510,GARD:0019001,,Rare skin disease +GARD:0017889,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017889,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017889,GARD:0022531,GARD:0019001,,Rare genetic disease +GARD:0017889,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0017889,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0017889,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0017889,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0017889,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0017889,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017889,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0017889,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0017889,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0017890,GARD:0022513,GARD:0020884,,Rare developmental defect during embryogenesis +GARD:0017890,GARD:0022531,GARD:0020884,,Rare genetic disease +GARD:0017890,GARD:0022536,GARD:0009319,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017890,GARD:0022535,GARD:0009319,,Rare neoplastic disease +GARD:0017890,GARD:0022522,GARD:0009319,,Rare hematologic disease +GARD:0017891,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0017891,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0017892,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017892,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017893,GARD:0022520,GARD:0022116,GARD:0018501,Rare ophthalmic disorder +GARD:0017893,GARD:0022531,GARD:0020086,GARD:0018501,Rare genetic disease +GARD:0017893,GARD:0022524,GARD:0022440,GARD:0018501,Rare neurologic disease +GARD:0017893,GARD:0022531,GARD:0022440,GARD:0018501,Rare genetic disease +GARD:0017893,GARD:0022531,GARD:0022151,GARD:0018501,Rare genetic disease +GARD:0017893,GARD:0022524,GARD:0020086,GARD:0018501,Rare neurologic disease +GARD:0017894,GARD:0022508,GARD:0018962,,Rare inborn errors of metabolism +GARD:0017894,GARD:0022531,GARD:0018962,,Rare genetic disease +GARD:0017894,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0017894,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0017894,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0017894,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017894,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0017894,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017894,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017894,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0017895,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017895,GARD:0022531,GARD:0020270,,Rare genetic disease +GARD:0017895,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0017895,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017895,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017896,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017896,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017896,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017897,GARD:0022508,GARD:0021342,GARD:0018502,Rare inborn errors of metabolism +GARD:0017897,GARD:0022531,GARD:0022440,GARD:0018502,Rare genetic disease +GARD:0017897,GARD:0022531,GARD:0021604,GARD:0018502,Rare genetic disease +GARD:0017897,GARD:0022524,GARD:0022440,GARD:0018502,Rare neurologic disease +GARD:0017897,GARD:0022531,GARD:0021342,GARD:0018502,Rare genetic disease +GARD:0017897,GARD:0022524,GARD:0021604,GARD:0018502,Rare neurologic disease +GARD:0017898,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017898,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017898,GARD:0022531,GARD:0022151,,Rare genetic disease +GARD:0017898,GARD:0022520,GARD:0022116,,Rare ophthalmic disorder +GARD:0017898,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017899,GARD:0022535,GARD:0022461,,Rare neoplastic disease +GARD:0017899,GARD:0022531,GARD:0022461,,Rare genetic disease +GARD:0017900,GARD:0022524,GARD:0020361,,Rare neurologic disease +GARD:0017900,GARD:0022531,GARD:0020394,,Rare genetic disease +GARD:0017900,GARD:0022531,GARD:0020361,,Rare genetic disease +GARD:0017901,GARD:0022530,GARD:0019012,,Rare allergic disease +GARD:0017901,GARD:0022510,GARD:0019012,,Rare skin disease +GARD:0017901,GARD:0022531,GARD:0020258,,Rare genetic disease +GARD:0017902,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017902,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017902,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017903,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017903,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017903,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017903,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017903,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0017903,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017903,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017903,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0017903,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0017903,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0017904,GARD:0022531,GARD:0021967,,Rare genetic disease +GARD:0017904,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017904,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017904,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017904,GARD:0022522,GARD:0021967,,Rare hematologic disease +GARD:0017905,GARD:0022531,GARD:0018749,,Rare genetic disease +GARD:0017905,GARD:0022524,GARD:0018749,,Rare neurologic disease +GARD:0017905,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017905,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017906,GARD:0022524,GARD:0020029,,Rare neurologic disease +GARD:0017906,GARD:0022531,GARD:0021271,,Rare genetic disease +GARD:0017906,GARD:0022531,GARD:0020029,,Rare genetic disease +GARD:0017906,GARD:0022524,GARD:0021271,,Rare neurologic disease +GARD:0017907,GARD:0022535,GARD:0019405,,Rare neoplastic disease +GARD:0017907,GARD:0022528,GARD:0019405,,Rare otorhinolaryngologic disease +GARD:0017908,GARD:0022528,GARD:0019405,,Rare otorhinolaryngologic disease +GARD:0017908,GARD:0022535,GARD:0019405,,Rare neoplastic disease +GARD:0017909,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0017909,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0017910,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0017910,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0017910,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0017910,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0017911,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017911,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017911,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0017911,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0017911,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0017911,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017911,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0017911,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0017911,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0017912,GARD:0022524,GARD:0010529,,Rare neurologic disease +GARD:0017912,GARD:0022531,GARD:0010529,,Rare genetic disease +GARD:0017913,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0017913,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0017913,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0017913,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0017913,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0017913,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0017913,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0017913,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0017913,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017914,GARD:0022524,GARD:0019415,,Rare neurologic disease +GARD:0017914,GARD:0022524,GARD:0011899,,Rare neurologic disease +GARD:0017914,GARD:0022524,GARD:0019927,,Rare neurologic disease +GARD:0017914,GARD:0022531,GARD:0019415,,Rare genetic disease +GARD:0017914,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017914,GARD:0022531,GARD:0019927,,Rare genetic disease +GARD:0017914,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017914,GARD:0022531,GARD:0011899,,Rare genetic disease +GARD:0017915,GARD:0022508,GARD:0020764,,Rare inborn errors of metabolism +GARD:0017915,GARD:0022531,GARD:0020764,,Rare genetic disease +GARD:0017915,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017915,GARD:0022531,GARD:0020521,,Rare genetic disease +GARD:0017915,GARD:0022536,GARD:0020521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017915,GARD:0022515,GARD:0020521,,Rare cardiac disease +GARD:0017915,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0017915,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0017915,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017915,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0017915,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0017916,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0017916,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0017916,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0017916,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0017916,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0017917,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0017917,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0017918,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0017918,GARD:0022531,GARD:0021596,,Rare genetic disease +GARD:0017918,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0017918,GARD:0022524,GARD:0021596,,Rare neurologic disease +GARD:0017919,GARD:0022531,GARD:0018726,,Rare genetic disease +GARD:0017919,GARD:0022513,GARD:0018726,,Rare developmental defect during embryogenesis +GARD:0017919,GARD:0022511,GARD:0018726,,Rare bone disease +GARD:0017919,GARD:0022517,GARD:0018726,,Rare respiratory disease +GARD:0017920,GARD:0022513,GARD:0020816,,Rare developmental defect during embryogenesis +GARD:0017920,GARD:0022531,GARD:0020816,,Rare genetic disease +GARD:0017920,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017920,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017921,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0017921,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0017921,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0017921,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017921,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017921,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017921,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017922,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0017922,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0017922,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0017922,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0017922,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0017922,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0017922,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0017922,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0017922,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0017922,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017922,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0017922,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0017922,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0017923,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017923,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017923,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017923,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0017923,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017923,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0017923,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0017923,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017923,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017924,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017924,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0017924,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0017924,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017924,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017925,GARD:0022531,GARD:0022043,,Rare genetic disease +GARD:0017925,GARD:0022513,GARD:0022043,,Rare developmental defect during embryogenesis +GARD:0017925,GARD:0022524,GARD:0022043,,Rare neurologic disease +GARD:0017926,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017926,GARD:0022513,GARD:0019999,,Rare developmental defect during embryogenesis +GARD:0017926,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017926,GARD:0022528,GARD:0019999,,Rare otorhinolaryngologic disease +GARD:0017926,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017926,GARD:0022531,GARD:0019999,,Rare genetic disease +GARD:0017927,GARD:0022528,GARD:0019405,,Rare otorhinolaryngologic disease +GARD:0017927,GARD:0022535,GARD:0019405,,Rare neoplastic disease +GARD:0017928,GARD:0022528,GARD:0019405,,Rare otorhinolaryngologic disease +GARD:0017928,GARD:0022535,GARD:0019405,,Rare neoplastic disease +GARD:0017929,GARD:0022516,GARD:0021043,,Rare gastroenterologic disease +GARD:0017929,GARD:0022535,GARD:0021043,,Rare neoplastic disease +GARD:0017930,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017930,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017930,GARD:0022531,GARD:0010248,,Rare genetic disease +GARD:0017930,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0017930,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0017930,GARD:0022524,GARD:0010248,,Rare neurologic disease +GARD:0017930,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0017930,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0017931,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017931,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0017931,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0017931,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0017932,GARD:0022528,GARD:0022046,,Rare otorhinolaryngologic disease +GARD:0017932,GARD:0022535,GARD:0022046,,Rare neoplastic disease +GARD:0017933,GARD:0022535,GARD:0022046,,Rare neoplastic disease +GARD:0017933,GARD:0022528,GARD:0022046,,Rare otorhinolaryngologic disease +GARD:0017934,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017934,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0017934,GARD:0022508,GARD:0020764,,Rare inborn errors of metabolism +GARD:0017934,GARD:0022531,GARD:0020764,,Rare genetic disease +GARD:0017934,GARD:0022524,GARD:0020371,,Rare neurologic disease +GARD:0017934,GARD:0022531,GARD:0020371,,Rare genetic disease +GARD:0017934,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017934,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0017935,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017935,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017935,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017936,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017936,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0017936,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017936,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0017937,GARD:0022528,GARD:0022528,,Rare otorhinolaryngologic disease +GARD:0017937,GARD:0022531,GARD:0019416,,Rare genetic disease +GARD:0017937,GARD:0022531,GARD:0020385,,Rare genetic disease +GARD:0017937,GARD:0022524,GARD:0019416,,Rare neurologic disease +GARD:0017937,GARD:0022524,GARD:0020385,,Rare neurologic disease +GARD:0017938,GARD:0022536,GARD:0021405,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017938,GARD:0022523,GARD:0021405,,Rare immune disease +GARD:0017938,GARD:0022531,GARD:0021405,,Rare genetic disease +GARD:0017939,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0017939,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017939,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0017940,GARD:0022508,GARD:0012966,,Rare inborn errors of metabolism +GARD:0017940,GARD:0022531,GARD:0012966,,Rare genetic disease +GARD:0017940,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017940,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017940,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017940,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017940,GARD:0022531,GARD:0020552,,Rare genetic disease +GARD:0017940,GARD:0022524,GARD:0020552,,Rare neurologic disease +GARD:0017941,GARD:0022523,GARD:0020114,,Rare immune disease +GARD:0017941,GARD:0022531,GARD:0020114,,Rare genetic disease +GARD:0017941,GARD:0022536,GARD:0020114,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017942,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0017942,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0017942,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017942,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017942,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017943,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0017943,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0017943,GARD:0022531,GARD:0019547,,Rare genetic disease +GARD:0017943,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0017943,GARD:0022531,GARD:0021356,,Rare genetic disease +GARD:0017943,GARD:0022508,GARD:0021356,,Rare inborn errors of metabolism +GARD:0017943,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0017943,GARD:0022520,GARD:0019547,,Rare ophthalmic disorder +GARD:0017944,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0017944,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017944,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0017944,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017944,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0017944,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0017944,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017944,GARD:0022531,GARD:0020007,,Rare genetic disease +GARD:0017945,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0017945,GARD:0022531,GARD:0022184,,Rare genetic disease +GARD:0017945,GARD:0022513,GARD:0022084,,Rare developmental defect during embryogenesis +GARD:0017945,GARD:0022531,GARD:0019987,,Rare genetic disease +GARD:0017945,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017945,GARD:0022534,GARD:0019860,,Rare abdominal surgical disease +GARD:0017945,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017945,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017945,GARD:0022531,GARD:0019860,,Rare genetic disease +GARD:0017945,GARD:0022536,GARD:0019860,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017945,GARD:0022513,GARD:0019860,,Rare developmental defect during embryogenesis +GARD:0017945,GARD:0022531,GARD:0022084,,Rare genetic disease +GARD:0017945,GARD:0022520,GARD:0022084,,Rare ophthalmic disorder +GARD:0017945,GARD:0022520,GARD:0022104,,Rare ophthalmic disorder +GARD:0017946,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017946,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017946,GARD:0022531,GARD:0021517,,Rare genetic disease +GARD:0017946,GARD:0022508,GARD:0021517,,Rare inborn errors of metabolism +GARD:0017946,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017946,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017947,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017947,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017947,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017948,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0017948,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017948,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0017948,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017948,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0017948,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0017948,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017948,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0017949,GARD:0022510,GARD:0019004,GARD:0018507,Rare skin disease +GARD:0017949,GARD:0022531,GARD:0020270,GARD:0018507,Rare genetic disease +GARD:0017950,GARD:0022531,GARD:0021348,,Rare genetic disease +GARD:0017950,GARD:0022524,GARD:0021348,,Rare neurologic disease +GARD:0017950,GARD:0022508,GARD:0021348,,Rare inborn errors of metabolism +GARD:0017950,GARD:0022524,GARD:0021628,,Rare neurologic disease +GARD:0017950,GARD:0022531,GARD:0021628,,Rare genetic disease +GARD:0017951,GARD:0022510,GARD:0022387,,Rare skin disease +GARD:0017951,GARD:0022531,GARD:0022387,,Rare genetic disease +GARD:0017952,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0017952,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0017953,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017953,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017953,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017954,GARD:0022520,GARD:0016484,,Rare ophthalmic disorder +GARD:0017954,GARD:0022513,GARD:0016484,,Rare developmental defect during embryogenesis +GARD:0017954,GARD:0022531,GARD:0016484,,Rare genetic disease +GARD:0017955,GARD:0022531,GARD:0020917,,Rare genetic disease +GARD:0017955,GARD:0022513,GARD:0020917,,Rare developmental defect during embryogenesis +GARD:0017955,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017955,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017955,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017956,GARD:0022524,GARD:0020363,,Rare neurologic disease +GARD:0017956,GARD:0022531,GARD:0020363,,Rare genetic disease +GARD:0017957,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017957,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017957,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0017957,GARD:0022531,GARD:0019770,,Rare genetic disease +GARD:0017957,GARD:0022524,GARD:0019770,,Rare neurologic disease +GARD:0017957,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0017957,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0017958,GARD:0022531,GARD:0021358,,Rare genetic disease +GARD:0017958,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017958,GARD:0022531,GARD:0021628,,Rare genetic disease +GARD:0017958,GARD:0022508,GARD:0021358,,Rare inborn errors of metabolism +GARD:0017958,GARD:0022524,GARD:0021628,,Rare neurologic disease +GARD:0017958,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017959,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0017959,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0017960,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0017960,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017960,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017960,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0017960,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017961,GARD:0022512,GARD:0019218,GARD:0018510,Rare renal disease +GARD:0017961,GARD:0022536,GARD:0019218,GARD:0018508,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017961,GARD:0022513,GARD:0019145,GARD:0018509,Rare developmental defect during embryogenesis +GARD:0017961,GARD:0022531,GARD:0019218,GARD:0018510,Rare genetic disease +GARD:0017961,GARD:0022536,GARD:0019218,GARD:0018509,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017961,GARD:0022531,GARD:0021507,GARD:0018509,Rare genetic disease +GARD:0017961,GARD:0022531,GARD:0019218,GARD:0018509,Rare genetic disease +GARD:0017961,GARD:0022513,GARD:0019833,GARD:0018509,Rare developmental defect during embryogenesis +GARD:0017961,GARD:0022528,GARD:0019145,GARD:0018508,Rare otorhinolaryngologic disease +GARD:0017961,GARD:0022536,GARD:0019218,GARD:0018510,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017961,GARD:0022531,GARD:0021507,GARD:0018508,Rare genetic disease +GARD:0017961,GARD:0022531,GARD:0021507,GARD:0018510,Rare genetic disease +GARD:0017961,GARD:0022512,GARD:0019218,GARD:0018508,Rare renal disease +GARD:0017961,GARD:0022513,GARD:0019218,GARD:0018509,Rare developmental defect during embryogenesis +GARD:0017961,GARD:0022531,GARD:0020003,GARD:0018508,Rare genetic disease +GARD:0017961,GARD:0022513,GARD:0019833,GARD:0018508,Rare developmental defect during embryogenesis +GARD:0017961,GARD:0022531,GARD:0019145,GARD:0018509,Rare genetic disease +GARD:0017961,GARD:0022528,GARD:0019145,GARD:0018509,Rare otorhinolaryngologic disease +GARD:0017961,GARD:0022513,GARD:0020003,GARD:0018508,Rare developmental defect during embryogenesis +GARD:0017961,GARD:0022513,GARD:0019145,GARD:0018510,Rare developmental defect during embryogenesis +GARD:0017961,GARD:0022531,GARD:0020003,GARD:0018509,Rare genetic disease +GARD:0017961,GARD:0022531,GARD:0019218,GARD:0018508,Rare genetic disease +GARD:0017961,GARD:0022531,GARD:0019145,GARD:0018508,Rare genetic disease +GARD:0017961,GARD:0022519,GARD:0020003,GARD:0018509,Rare surgical cardiac disease +GARD:0017961,GARD:0022513,GARD:0020003,GARD:0018510,Rare developmental defect during embryogenesis +GARD:0017961,GARD:0022531,GARD:0020003,GARD:0018510,Rare genetic disease +GARD:0017961,GARD:0022531,GARD:0019145,GARD:0018510,Rare genetic disease +GARD:0017961,GARD:0022513,GARD:0019833,GARD:0018510,Rare developmental defect during embryogenesis +GARD:0017961,GARD:0022513,GARD:0020003,GARD:0018509,Rare developmental defect during embryogenesis +GARD:0017961,GARD:0022519,GARD:0020003,GARD:0018508,Rare surgical cardiac disease +GARD:0017961,GARD:0022519,GARD:0020003,GARD:0018510,Rare surgical cardiac disease +GARD:0017961,GARD:0022513,GARD:0019218,GARD:0018508,Rare developmental defect during embryogenesis +GARD:0017961,GARD:0022512,GARD:0019218,GARD:0018509,Rare renal disease +GARD:0017961,GARD:0022513,GARD:0019145,GARD:0018508,Rare developmental defect during embryogenesis +GARD:0017961,GARD:0022528,GARD:0019145,GARD:0018510,Rare otorhinolaryngologic disease +GARD:0017961,GARD:0022513,GARD:0019218,GARD:0018510,Rare developmental defect during embryogenesis +GARD:0017962,GARD:0022531,GARD:0022013,,Rare genetic disease +GARD:0017962,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017962,GARD:0022524,GARD:0022008,,Rare neurologic disease +GARD:0017962,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017962,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0017962,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0017963,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0017963,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0017963,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0017963,GARD:0022513,GARD:0019905,,Rare developmental defect during embryogenesis +GARD:0017963,GARD:0022531,GARD:0019905,,Rare genetic disease +GARD:0017964,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017964,GARD:0022524,GARD:0021403,,Rare neurologic disease +GARD:0017964,GARD:0022531,GARD:0021403,,Rare genetic disease +GARD:0017964,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017964,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0017964,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018515,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018511,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018526,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018539,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018513,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018515,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018527,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018524,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018543,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018545,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018519,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018532,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018524,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018527,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018525,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018538,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018529,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018540,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018520,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018514,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018537,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018543,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018516,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018541,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018531,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018517,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018540,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018536,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018537,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018542,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018542,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018512,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018528,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018522,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018535,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018519,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0000081,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018518,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018520,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018546,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018546,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018545,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018536,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018521,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018521,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018530,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018531,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0000081,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018535,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018516,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018544,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018532,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018534,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018523,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018539,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018517,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018533,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018511,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018526,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018522,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018534,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018541,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018528,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018547,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018547,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018530,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018512,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018513,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018533,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018523,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018525,Rare genetic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018518,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018514,Rare neurologic disease +GARD:0017965,GARD:0022531,GARD:0020325,GARD:0018538,Rare genetic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018529,Rare neurologic disease +GARD:0017965,GARD:0022524,GARD:0019090,GARD:0018544,Rare neurologic disease +GARD:0017966,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017966,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017967,GARD:0022531,GARD:0019510,,Rare genetic disease +GARD:0017967,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0017967,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0017967,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017967,GARD:0022520,GARD:0019510,,Rare ophthalmic disorder +GARD:0017968,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017968,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017968,GARD:0022531,GARD:0022150,,Rare genetic disease +GARD:0017968,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0017968,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0017968,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017968,GARD:0022520,GARD:0022115,,Rare ophthalmic disorder +GARD:0017968,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0017969,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0017969,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017969,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0017969,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017969,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0017969,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017970,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017970,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017970,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017971,GARD:0022529,GARD:0017654,,Rare infertility +GARD:0017971,GARD:0022531,GARD:0017654,,Rare genetic disease +GARD:0017972,GARD:0022535,GARD:0008638,GARD:0022354,Rare neoplastic disease +GARD:0017972,GARD:0022522,GARD:0008638,GARD:0022357,Rare hematologic disease +GARD:0017972,GARD:0022535,GARD:0008638,GARD:0022357,Rare neoplastic disease +GARD:0017972,GARD:0022522,GARD:0008638,GARD:0022354,Rare hematologic disease +GARD:0017972,GARD:0022536,GARD:0008638,GARD:0022354,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017972,GARD:0022536,GARD:0008638,GARD:0022357,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017973,GARD:0022508,GARD:0006414,,Rare inborn errors of metabolism +GARD:0017973,GARD:0022531,GARD:0006414,,Rare genetic disease +GARD:0017973,GARD:0022521,GARD:0006414,,Rare endocrine disease +GARD:0017974,GARD:0022531,GARD:0021337,,Rare genetic disease +GARD:0017974,GARD:0022508,GARD:0021337,,Rare inborn errors of metabolism +GARD:0017974,GARD:0022525,GARD:0022214,,Rare systemic or rheumatologic disease +GARD:0017974,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0017974,GARD:0022510,GARD:0022214,,Rare skin disease +GARD:0017974,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0017974,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017974,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017974,GARD:0022513,GARD:0021609,,Rare developmental defect during embryogenesis +GARD:0017974,GARD:0022513,GARD:0022214,,Rare developmental defect during embryogenesis +GARD:0017974,GARD:0022531,GARD:0022214,,Rare genetic disease +GARD:0017974,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0017974,GARD:0022531,GARD:0021609,,Rare genetic disease +GARD:0017975,GARD:0022525,GARD:0006322,,Rare systemic or rheumatologic disease +GARD:0017975,GARD:0022531,GARD:0006322,,Rare genetic disease +GARD:0017975,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0017975,GARD:0022513,GARD:0006322,,Rare developmental defect during embryogenesis +GARD:0017975,GARD:0022510,GARD:0006322,,Rare skin disease +GARD:0017975,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0017975,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0017976,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0017976,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0017977,GARD:0022510,GARD:0019448,,Rare skin disease +GARD:0017977,GARD:0022531,GARD:0019924,,Rare genetic disease +GARD:0017977,GARD:0022524,GARD:0019924,,Rare neurologic disease +GARD:0017977,GARD:0022531,GARD:0019448,,Rare genetic disease +GARD:0017978,GARD:0022535,GARD:0020633,,Rare neoplastic disease +GARD:0017978,GARD:0022536,GARD:0020633,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017978,GARD:0022523,GARD:0020633,,Rare immune disease +GARD:0017978,GARD:0022531,GARD:0020633,,Rare genetic disease +GARD:0017979,GARD:0022536,GARD:0020633,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017979,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017979,GARD:0022531,GARD:0020633,,Rare genetic disease +GARD:0017979,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0017979,GARD:0022535,GARD:0020633,,Rare neoplastic disease +GARD:0017979,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0017979,GARD:0022523,GARD:0020633,,Rare immune disease +GARD:0017980,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017980,GARD:0022531,GARD:0020005,,Rare genetic disease +GARD:0017980,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0017980,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017981,GARD:0022523,GARD:0020633,,Rare immune disease +GARD:0017981,GARD:0022531,GARD:0020633,,Rare genetic disease +GARD:0017981,GARD:0022535,GARD:0020633,,Rare neoplastic disease +GARD:0017981,GARD:0022536,GARD:0020633,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017982,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017982,GARD:0022531,GARD:0019785,,Rare genetic disease +GARD:0017982,GARD:0022515,GARD:0019785,,Rare cardiac disease +GARD:0017982,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0017983,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0017983,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017983,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0017983,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017983,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017983,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017983,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017983,GARD:0022531,GARD:0021322,,Rare genetic disease +GARD:0017983,GARD:0022508,GARD:0021322,,Rare inborn errors of metabolism +GARD:0017984,GARD:0022510,GARD:0018993,,Rare skin disease +GARD:0017984,GARD:0022531,GARD:0020265,,Rare genetic disease +GARD:0017985,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017985,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017985,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017985,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0017985,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0017985,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0017986,GARD:0022531,GARD:0008702,GARD:0018555,Rare genetic disease +GARD:0017986,GARD:0022531,GARD:0008702,GARD:0018554,Rare genetic disease +GARD:0017986,GARD:0022531,GARD:0008702,GARD:0018556,Rare genetic disease +GARD:0017986,GARD:0022512,GARD:0008702,GARD:0018557,Rare renal disease +GARD:0017986,GARD:0022536,GARD:0008702,GARD:0018557,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017986,GARD:0022531,GARD:0008702,GARD:0018557,Rare genetic disease +GARD:0017986,GARD:0022536,GARD:0008702,GARD:0018555,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017986,GARD:0022531,GARD:0008702,GARD:0018551,Rare genetic disease +GARD:0017986,GARD:0022531,GARD:0008702,GARD:0018552,Rare genetic disease +GARD:0017986,GARD:0022512,GARD:0008702,GARD:0018554,Rare renal disease +GARD:0017986,GARD:0022522,GARD:0008702,GARD:0018552,Rare hematologic disease +GARD:0017986,GARD:0022536,GARD:0008702,GARD:0018554,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017986,GARD:0022531,GARD:0008702,GARD:0018550,Rare genetic disease +GARD:0017986,GARD:0022536,GARD:0008702,GARD:0018553,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017986,GARD:0022522,GARD:0008702,GARD:0018556,Rare hematologic disease +GARD:0017986,GARD:0022522,GARD:0008702,GARD:0018557,Rare hematologic disease +GARD:0017986,GARD:0022522,GARD:0008702,GARD:0018555,Rare hematologic disease +GARD:0017986,GARD:0022512,GARD:0008702,GARD:0018550,Rare renal disease +GARD:0017986,GARD:0022536,GARD:0008702,GARD:0018551,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017986,GARD:0022536,GARD:0008702,GARD:0018556,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017986,GARD:0022522,GARD:0008702,GARD:0018550,Rare hematologic disease +GARD:0017986,GARD:0022522,GARD:0008702,GARD:0018553,Rare hematologic disease +GARD:0017986,GARD:0022512,GARD:0008702,GARD:0018553,Rare renal disease +GARD:0017986,GARD:0022522,GARD:0008702,GARD:0018554,Rare hematologic disease +GARD:0017986,GARD:0022512,GARD:0008702,GARD:0018552,Rare renal disease +GARD:0017986,GARD:0022531,GARD:0008702,GARD:0018553,Rare genetic disease +GARD:0017986,GARD:0022522,GARD:0008702,GARD:0018551,Rare hematologic disease +GARD:0017986,GARD:0022512,GARD:0008702,GARD:0018555,Rare renal disease +GARD:0017986,GARD:0022512,GARD:0008702,GARD:0018551,Rare renal disease +GARD:0017986,GARD:0022536,GARD:0008702,GARD:0018550,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017986,GARD:0022512,GARD:0008702,GARD:0018556,Rare renal disease +GARD:0017986,GARD:0022536,GARD:0008702,GARD:0018552,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0017987,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017987,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017987,GARD:0022531,GARD:0021158,,Rare genetic disease +GARD:0017987,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017987,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017987,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017987,GARD:0022508,GARD:0021158,,Rare inborn errors of metabolism +GARD:0017988,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0017988,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017988,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017988,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017988,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017988,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017988,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017988,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0017989,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0017989,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0017990,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017990,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0017990,GARD:0022508,GARD:0019152,,Rare inborn errors of metabolism +GARD:0017990,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017990,GARD:0022531,GARD:0019152,,Rare genetic disease +GARD:0017990,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0017991,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017991,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0017991,GARD:0022531,GARD:0019152,,Rare genetic disease +GARD:0017991,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0017991,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017991,GARD:0022508,GARD:0019152,,Rare inborn errors of metabolism +GARD:0017992,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017992,GARD:0022534,GARD:0019862,,Rare abdominal surgical disease +GARD:0017992,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0017992,GARD:0022513,GARD:0019862,,Rare developmental defect during embryogenesis +GARD:0017992,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017992,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0017992,GARD:0022531,GARD:0019862,,Rare genetic disease +GARD:0017992,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017992,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0017993,GARD:0022511,GARD:0019202,,Rare bone disease +GARD:0017993,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017993,GARD:0022531,GARD:0021544,,Rare genetic disease +GARD:0017993,GARD:0022513,GARD:0019202,,Rare developmental defect during embryogenesis +GARD:0017993,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0017993,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0017993,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017993,GARD:0022531,GARD:0019202,,Rare genetic disease +GARD:0017993,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0017993,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0017993,GARD:0022531,GARD:0018936,,Rare genetic disease +GARD:0017993,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0017993,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017993,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0017994,GARD:0022524,GARD:0020552,,Rare neurologic disease +GARD:0017994,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017994,GARD:0022531,GARD:0020552,,Rare genetic disease +GARD:0017994,GARD:0022508,GARD:0021156,,Rare inborn errors of metabolism +GARD:0017994,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017994,GARD:0022531,GARD:0021156,,Rare genetic disease +GARD:0017995,GARD:0022508,GARD:0021346,,Rare inborn errors of metabolism +GARD:0017995,GARD:0022531,GARD:0021346,,Rare genetic disease +GARD:0017996,GARD:0022531,GARD:0018953,,Rare genetic disease +GARD:0017996,GARD:0022508,GARD:0018953,,Rare inborn errors of metabolism +GARD:0017997,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017997,GARD:0022531,GARD:0018936,,Rare genetic disease +GARD:0017997,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0017997,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017997,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017997,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0017997,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0017997,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0017998,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0017998,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0017998,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0017998,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0017998,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0017998,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0017999,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0017999,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0017999,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0017999,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0017999,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0017999,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0018000,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0018000,GARD:0022516,GARD:0022203,,Rare gastroenterologic disease +GARD:0018000,GARD:0022531,GARD:0022203,,Rare genetic disease +GARD:0018000,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0018000,GARD:0022523,GARD:0022203,,Rare immune disease +GARD:0018000,GARD:0022536,GARD:0022203,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018001,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0018001,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018001,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018001,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018001,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0018001,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0018001,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0018001,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0018002,GARD:0022531,GARD:0022390,,Rare genetic disease +GARD:0018002,GARD:0022521,GARD:0022390,,Rare endocrine disease +GARD:0018003,GARD:0022536,GARD:0021539,GARD:0022288,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018003,GARD:0022512,GARD:0021539,GARD:0022288,Rare renal disease +GARD:0018003,GARD:0022536,GARD:0021539,GARD:0022287,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018003,GARD:0022512,GARD:0021539,GARD:0022287,Rare renal disease +GARD:0018004,GARD:0022531,GARD:0012632,,Rare genetic disease +GARD:0018004,GARD:0022524,GARD:0012632,,Rare neurologic disease +GARD:0018004,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0018004,GARD:0022508,GARD:0012632,,Rare inborn errors of metabolism +GARD:0018004,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0018005,GARD:0022520,GARD:0002424,,Rare ophthalmic disorder +GARD:0018005,GARD:0022508,GARD:0002424,,Rare inborn errors of metabolism +GARD:0018005,GARD:0022531,GARD:0002424,,Rare genetic disease +GARD:0018005,GARD:0022512,GARD:0002424,,Rare renal disease +GARD:0018006,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0018006,GARD:0022536,GARD:0020521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018006,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0018006,GARD:0022515,GARD:0020521,,Rare cardiac disease +GARD:0018006,GARD:0022531,GARD:0020521,,Rare genetic disease +GARD:0018007,GARD:0022531,GARD:0005049,,Rare genetic disease +GARD:0018007,GARD:0022524,GARD:0005049,,Rare neurologic disease +GARD:0018007,GARD:0022513,GARD:0005049,,Rare developmental defect during embryogenesis +GARD:0018008,GARD:0022529,GARD:0021682,,Rare infertility +GARD:0018008,GARD:0022531,GARD:0021693,,Rare genetic disease +GARD:0018008,GARD:0022531,GARD:0021992,,Rare genetic disease +GARD:0018008,GARD:0022521,GARD:0019294,,Rare endocrine disease +GARD:0018008,GARD:0022531,GARD:0000023,,Rare genetic disease +GARD:0018008,GARD:0022513,GARD:0000023,,Rare developmental defect during embryogenesis +GARD:0018008,GARD:0022514,GARD:0019294,,Rare gynecologic or obstetric disease +GARD:0018008,GARD:0022520,GARD:0000023,,Rare ophthalmic disorder +GARD:0018009,GARD:0022511,GARD:0000985,,Rare bone disease +GARD:0018009,GARD:0022531,GARD:0000985,,Rare genetic disease +GARD:0018009,GARD:0022513,GARD:0000985,,Rare developmental defect during embryogenesis +GARD:0018010,GARD:0022531,GARD:0009993,,Rare genetic disease +GARD:0018010,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0018010,GARD:0022528,GARD:0009993,,Rare otorhinolaryngologic disease +GARD:0018010,GARD:0022524,GARD:0009993,,Rare neurologic disease +GARD:0018010,GARD:0022520,GARD:0009993,,Rare ophthalmic disorder +GARD:0018010,GARD:0022513,GARD:0009993,,Rare developmental defect during embryogenesis +GARD:0018010,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0018011,GARD:0022531,GARD:0022314,,Rare genetic disease +GARD:0018011,GARD:0022511,GARD:0022314,,Rare bone disease +GARD:0018011,GARD:0022513,GARD:0022314,,Rare developmental defect during embryogenesis +GARD:0018011,GARD:0022524,GARD:0022314,,Rare neurologic disease +GARD:0018012,GARD:0022531,GARD:0018814,,Rare genetic disease +GARD:0018012,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0018012,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0018012,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0018012,GARD:0022508,GARD:0018814,,Rare inborn errors of metabolism +GARD:0018012,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0018013,GARD:0022513,GARD:0022326,,Rare developmental defect during embryogenesis +GARD:0018013,GARD:0022528,GARD:0022326,,Rare otorhinolaryngologic disease +GARD:0018013,GARD:0022524,GARD:0022326,,Rare neurologic disease +GARD:0018013,GARD:0022531,GARD:0022326,,Rare genetic disease +GARD:0018013,GARD:0022507,GARD:0022326,,Rare maxillo-facial surgical disease +GARD:0018013,GARD:0022526,GARD:0022326,,Rare odontologic disease +GARD:0018014,GARD:0022531,GARD:0021453,,Rare genetic disease +GARD:0018014,GARD:0022531,GARD:0022488,,Rare genetic disease +GARD:0018014,GARD:0022525,GARD:0021453,,Rare systemic or rheumatologic disease +GARD:0018014,GARD:0021079,GARD:0021453,,Rare systemic or rheumatological disease of childhood +GARD:0018014,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0018015,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0018015,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018015,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018015,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0018015,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0018015,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018015,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0018015,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0018016,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018016,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018016,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0018016,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0018016,GARD:0022531,GARD:0018685,,Rare genetic disease +GARD:0018016,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018016,GARD:0022513,GARD:0018685,,Rare developmental defect during embryogenesis +GARD:0018016,GARD:0022511,GARD:0018685,,Rare bone disease +GARD:0018016,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0018016,GARD:0022520,GARD:0019521,,Rare ophthalmic disorder +GARD:0018016,GARD:0022531,GARD:0019521,,Rare genetic disease +GARD:0018017,GARD:0022508,GARD:0010958,,Rare inborn errors of metabolism +GARD:0018017,GARD:0022531,GARD:0010958,,Rare genetic disease +GARD:0018017,GARD:0022520,GARD:0010958,,Rare ophthalmic disorder +GARD:0018017,GARD:0022510,GARD:0010958,,Rare skin disease +GARD:0018018,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0018018,GARD:0022531,GARD:0021131,,Rare genetic disease +GARD:0018018,GARD:0022531,GARD:0020559,,Rare genetic disease +GARD:0018018,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0018018,GARD:0022508,GARD:0021131,,Rare inborn errors of metabolism +GARD:0018018,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0018018,GARD:0022524,GARD:0020559,,Rare neurologic disease +GARD:0018018,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0018018,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0018018,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0018019,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018019,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0018019,GARD:0022510,GARD:0018996,,Rare skin disease +GARD:0018019,GARD:0022531,GARD:0018996,,Rare genetic disease +GARD:0018019,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0018019,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0018019,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018019,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018020,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0018020,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018020,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0018020,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018020,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018020,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0018021,GARD:0022531,GARD:0021125,,Rare genetic disease +GARD:0018021,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0018021,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0018021,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0018021,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0018021,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018021,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0018021,GARD:0022510,GARD:0021125,,Rare skin disease +GARD:0018021,GARD:0022520,GARD:0019888,,Rare ophthalmic disorder +GARD:0018021,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0018021,GARD:0022531,GARD:0019888,,Rare genetic disease +GARD:0018021,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0018021,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0018021,GARD:0022513,GARD:0019888,,Rare developmental defect during embryogenesis +GARD:0018021,GARD:0022520,GARD:0021125,,Rare ophthalmic disorder +GARD:0018021,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0018022,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0018022,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018022,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018022,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0018022,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0018022,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0018022,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018022,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0018023,GARD:0022524,GARD:0020384,,Rare neurologic disease +GARD:0018023,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0018023,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0018023,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0018023,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0018023,GARD:0022531,GARD:0020384,,Rare genetic disease +GARD:0018024,GARD:0022520,GARD:0020342,,Rare ophthalmic disorder +GARD:0018024,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018024,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0018024,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018024,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018024,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018024,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0018024,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0018024,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0018024,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0018024,GARD:0022531,GARD:0020342,,Rare genetic disease +GARD:0018024,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0018024,GARD:0022513,GARD:0020342,,Rare developmental defect during embryogenesis +GARD:0018025,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0018025,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018025,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0018025,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0018025,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0018025,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0018025,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018025,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0018025,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0018025,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0018025,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0018025,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0018025,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0018025,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0018025,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018026,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0018026,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0018026,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0018026,GARD:0022522,GARD:0018889,,Rare hematologic disease +GARD:0018026,GARD:0022531,GARD:0018889,,Rare genetic disease +GARD:0018026,GARD:0022536,GARD:0018889,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018026,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0018027,GARD:0022531,GARD:0019195,GARD:0018560,Rare genetic disease +GARD:0018027,GARD:0022531,GARD:0021008,GARD:0018561,Rare genetic disease +GARD:0018027,GARD:0022531,GARD:0021008,GARD:0018560,Rare genetic disease +GARD:0018027,GARD:0022524,GARD:0020999,GARD:0018560,Rare neurologic disease +GARD:0018027,GARD:0022524,GARD:0020999,GARD:0018561,Rare neurologic disease +GARD:0018027,GARD:0022513,GARD:0019195,GARD:0018561,Rare developmental defect during embryogenesis +GARD:0018027,GARD:0022513,GARD:0019195,GARD:0018560,Rare developmental defect during embryogenesis +GARD:0018027,GARD:0022511,GARD:0019195,GARD:0018560,Rare bone disease +GARD:0018027,GARD:0022531,GARD:0019195,GARD:0018561,Rare genetic disease +GARD:0018027,GARD:0022513,GARD:0020999,GARD:0018561,Rare developmental defect during embryogenesis +GARD:0018027,GARD:0022513,GARD:0020999,GARD:0018560,Rare developmental defect during embryogenesis +GARD:0018027,GARD:0022511,GARD:0019195,GARD:0018561,Rare bone disease +GARD:0018028,GARD:0022531,GARD:0021284,,Rare genetic disease +GARD:0018028,GARD:0022531,GARD:0018771,,Rare genetic disease +GARD:0018028,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0018028,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0018028,GARD:0022508,GARD:0018771,,Rare inborn errors of metabolism +GARD:0018028,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0018029,GARD:0022524,GARD:0010977,,Rare neurologic disease +GARD:0018029,GARD:0022531,GARD:0010977,,Rare genetic disease +GARD:0018029,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018029,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018029,GARD:0022513,GARD:0010977,,Rare developmental defect during embryogenesis +GARD:0018029,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018030,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0018030,GARD:0022513,GARD:0010977,,Rare developmental defect during embryogenesis +GARD:0018030,GARD:0022524,GARD:0010977,,Rare neurologic disease +GARD:0018030,GARD:0022531,GARD:0010977,,Rare genetic disease +GARD:0018030,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0018031,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018031,GARD:0022531,GARD:0010977,,Rare genetic disease +GARD:0018031,GARD:0022524,GARD:0010977,,Rare neurologic disease +GARD:0018031,GARD:0022513,GARD:0010977,,Rare developmental defect during embryogenesis +GARD:0018031,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018031,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018032,GARD:0022524,GARD:0010977,GARD:0018562,Rare neurologic disease +GARD:0018032,GARD:0022513,GARD:0019832,GARD:0018562,Rare developmental defect during embryogenesis +GARD:0018032,GARD:0022524,GARD:0010977,GARD:0018563,Rare neurologic disease +GARD:0018032,GARD:0022513,GARD:0010977,GARD:0018563,Rare developmental defect during embryogenesis +GARD:0018032,GARD:0022531,GARD:0022441,GARD:0018562,Rare genetic disease +GARD:0018032,GARD:0022513,GARD:0019832,GARD:0018563,Rare developmental defect during embryogenesis +GARD:0018032,GARD:0022524,GARD:0019832,GARD:0018562,Rare neurologic disease +GARD:0018032,GARD:0022531,GARD:0010977,GARD:0018563,Rare genetic disease +GARD:0018032,GARD:0022513,GARD:0010977,GARD:0018562,Rare developmental defect during embryogenesis +GARD:0018032,GARD:0022531,GARD:0010977,GARD:0018562,Rare genetic disease +GARD:0018032,GARD:0022524,GARD:0019832,GARD:0018563,Rare neurologic disease +GARD:0018032,GARD:0022531,GARD:0022441,GARD:0018563,Rare genetic disease +GARD:0018033,GARD:0022520,GARD:0019529,,Rare ophthalmic disorder +GARD:0018033,GARD:0022531,GARD:0019770,,Rare genetic disease +GARD:0018033,GARD:0022531,GARD:0019529,,Rare genetic disease +GARD:0018033,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0018033,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0018033,GARD:0022524,GARD:0019770,,Rare neurologic disease +GARD:0018033,GARD:0022508,GARD:0021517,,Rare inborn errors of metabolism +GARD:0018033,GARD:0022531,GARD:0021517,,Rare genetic disease +GARD:0018034,GARD:0022513,GARD:0021925,GARD:0018036,Rare developmental defect during embryogenesis +GARD:0018034,GARD:0022513,GARD:0020999,GARD:0018037,Rare developmental defect during embryogenesis +GARD:0018034,GARD:0022524,GARD:0020999,GARD:0018036,Rare neurologic disease +GARD:0018034,GARD:0022513,GARD:0020999,GARD:0018036,Rare developmental defect during embryogenesis +GARD:0018034,GARD:0022513,GARD:0021925,GARD:0018037,Rare developmental defect during embryogenesis +GARD:0018034,GARD:0022524,GARD:0020999,GARD:0018037,Rare neurologic disease +GARD:0018035,GARD:0022508,GARD:0020753,,Rare inborn errors of metabolism +GARD:0018035,GARD:0022531,GARD:0020753,,Rare genetic disease +GARD:0018035,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0018035,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0018036,GARD:0022513,GARD:0018034,,Rare developmental defect during embryogenesis +GARD:0018036,GARD:0022524,GARD:0018034,,Rare neurologic disease +GARD:0018037,GARD:0022524,GARD:0018034,,Rare neurologic disease +GARD:0018037,GARD:0022513,GARD:0020806,,Rare developmental defect during embryogenesis +GARD:0018037,GARD:0022513,GARD:0018034,,Rare developmental defect during embryogenesis +GARD:0018037,GARD:0022531,GARD:0020806,,Rare genetic disease +GARD:0018038,GARD:0022513,GARD:0013388,,Rare developmental defect during embryogenesis +GARD:0018038,GARD:0022521,GARD:0013388,,Rare endocrine disease +GARD:0018038,GARD:0022531,GARD:0013388,,Rare genetic disease +GARD:0018038,GARD:0022510,GARD:0013388,,Rare skin disease +GARD:0018038,GARD:0022524,GARD:0013388,,Rare neurologic disease +GARD:0018039,GARD:0022529,GARD:0005671,,Rare infertility +GARD:0018039,GARD:0022513,GARD:0005671,,Rare developmental defect during embryogenesis +GARD:0018039,GARD:0022532,GARD:0005671,,Rare urogenital disease +GARD:0018039,GARD:0022531,GARD:0005671,,Rare genetic disease +GARD:0018039,GARD:0022536,GARD:0005671,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018039,GARD:0022514,GARD:0005671,,Rare gynecologic or obstetric disease +GARD:0018039,GARD:0022521,GARD:0005671,,Rare endocrine disease +GARD:0018040,GARD:0022532,GARD:0005671,,Rare urogenital disease +GARD:0018040,GARD:0022514,GARD:0005671,,Rare gynecologic or obstetric disease +GARD:0018040,GARD:0022521,GARD:0005671,,Rare endocrine disease +GARD:0018040,GARD:0022531,GARD:0005671,,Rare genetic disease +GARD:0018040,GARD:0022529,GARD:0005671,,Rare infertility +GARD:0018040,GARD:0022513,GARD:0005671,,Rare developmental defect during embryogenesis +GARD:0018040,GARD:0022536,GARD:0005671,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018041,GARD:0022521,GARD:0005671,,Rare endocrine disease +GARD:0018041,GARD:0022529,GARD:0005671,,Rare infertility +GARD:0018041,GARD:0022514,GARD:0005671,,Rare gynecologic or obstetric disease +GARD:0018041,GARD:0022532,GARD:0005671,,Rare urogenital disease +GARD:0018041,GARD:0022513,GARD:0005671,,Rare developmental defect during embryogenesis +GARD:0018041,GARD:0022536,GARD:0005671,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018041,GARD:0022531,GARD:0005671,,Rare genetic disease +GARD:0018042,GARD:0022536,GARD:0005671,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018042,GARD:0022521,GARD:0005671,,Rare endocrine disease +GARD:0018042,GARD:0022513,GARD:0005671,,Rare developmental defect during embryogenesis +GARD:0018042,GARD:0022532,GARD:0005671,,Rare urogenital disease +GARD:0018042,GARD:0022514,GARD:0005671,,Rare gynecologic or obstetric disease +GARD:0018042,GARD:0022531,GARD:0005671,,Rare genetic disease +GARD:0018042,GARD:0022529,GARD:0005671,,Rare infertility +GARD:0018043,GARD:0022532,GARD:0005671,,Rare urogenital disease +GARD:0018043,GARD:0022536,GARD:0005671,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018043,GARD:0022531,GARD:0005671,,Rare genetic disease +GARD:0018043,GARD:0022513,GARD:0005671,,Rare developmental defect during embryogenesis +GARD:0018043,GARD:0022529,GARD:0005671,,Rare infertility +GARD:0018043,GARD:0022514,GARD:0005671,,Rare gynecologic or obstetric disease +GARD:0018043,GARD:0022521,GARD:0005671,,Rare endocrine disease +GARD:0018044,GARD:0022532,GARD:0005671,,Rare urogenital disease +GARD:0018044,GARD:0022513,GARD:0005671,,Rare developmental defect during embryogenesis +GARD:0018044,GARD:0022531,GARD:0005671,,Rare genetic disease +GARD:0018044,GARD:0022521,GARD:0005671,,Rare endocrine disease +GARD:0018044,GARD:0022529,GARD:0005671,,Rare infertility +GARD:0018044,GARD:0022514,GARD:0005671,,Rare gynecologic or obstetric disease +GARD:0018044,GARD:0022536,GARD:0005671,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018045,GARD:0022513,GARD:0016633,,Rare developmental defect during embryogenesis +GARD:0018045,GARD:0022531,GARD:0016633,,Rare genetic disease +GARD:0018045,GARD:0022531,GARD:0016634,,Rare genetic disease +GARD:0018045,GARD:0022520,GARD:0016634,,Rare ophthalmic disorder +GARD:0018045,GARD:0022511,GARD:0016634,,Rare bone disease +GARD:0018045,GARD:0022520,GARD:0016633,,Rare ophthalmic disorder +GARD:0018045,GARD:0022513,GARD:0016634,,Rare developmental defect during embryogenesis +GARD:0018045,GARD:0022511,GARD:0016633,,Rare bone disease +GARD:0018046,GARD:0022531,GARD:0016633,,Rare genetic disease +GARD:0018046,GARD:0022511,GARD:0016633,,Rare bone disease +GARD:0018046,GARD:0022513,GARD:0016633,,Rare developmental defect during embryogenesis +GARD:0018046,GARD:0022520,GARD:0016633,,Rare ophthalmic disorder +GARD:0018047,GARD:0022520,GARD:0016634,,Rare ophthalmic disorder +GARD:0018047,GARD:0022511,GARD:0016634,,Rare bone disease +GARD:0018047,GARD:0022513,GARD:0016634,,Rare developmental defect during embryogenesis +GARD:0018047,GARD:0022531,GARD:0016634,,Rare genetic disease +GARD:0018048,GARD:0022520,GARD:0016634,,Rare ophthalmic disorder +GARD:0018048,GARD:0022531,GARD:0016634,,Rare genetic disease +GARD:0018048,GARD:0022513,GARD:0016634,,Rare developmental defect during embryogenesis +GARD:0018048,GARD:0022511,GARD:0016634,,Rare bone disease +GARD:0018049,GARD:0022520,GARD:0016657,,Rare ophthalmic disorder +GARD:0018049,GARD:0022531,GARD:0016657,,Rare genetic disease +GARD:0018049,GARD:0022513,GARD:0016657,,Rare developmental defect during embryogenesis +GARD:0018050,GARD:0022531,GARD:0016657,,Rare genetic disease +GARD:0018050,GARD:0022513,GARD:0016657,,Rare developmental defect during embryogenesis +GARD:0018050,GARD:0022520,GARD:0016657,,Rare ophthalmic disorder +GARD:0018051,GARD:0022513,GARD:0016662,,Rare developmental defect during embryogenesis +GARD:0018051,GARD:0022511,GARD:0016662,,Rare bone disease +GARD:0018051,GARD:0022531,GARD:0016662,,Rare genetic disease +GARD:0018052,GARD:0022513,GARD:0016662,,Rare developmental defect during embryogenesis +GARD:0018052,GARD:0022511,GARD:0016662,,Rare bone disease +GARD:0018052,GARD:0022531,GARD:0016662,,Rare genetic disease +GARD:0018053,GARD:0022513,GARD:0016662,,Rare developmental defect during embryogenesis +GARD:0018053,GARD:0022531,GARD:0016662,,Rare genetic disease +GARD:0018053,GARD:0022511,GARD:0016662,,Rare bone disease +GARD:0018054,GARD:0022531,GARD:0016664,,Rare genetic disease +GARD:0018054,GARD:0022517,GARD:0016664,,Rare respiratory disease +GARD:0018055,GARD:0022517,GARD:0016664,,Rare respiratory disease +GARD:0018055,GARD:0022531,GARD:0016664,,Rare genetic disease +GARD:0018056,GARD:0022517,GARD:0016664,,Rare respiratory disease +GARD:0018056,GARD:0022531,GARD:0016664,,Rare genetic disease +GARD:0018057,GARD:0022531,GARD:0016667,,Rare genetic disease +GARD:0018057,GARD:0022524,GARD:0016667,,Rare neurologic disease +GARD:0018058,GARD:0022531,GARD:0016667,,Rare genetic disease +GARD:0018058,GARD:0022524,GARD:0016667,,Rare neurologic disease +GARD:0018059,GARD:0022524,GARD:0016667,,Rare neurologic disease +GARD:0018059,GARD:0022531,GARD:0016667,,Rare genetic disease +GARD:0018060,GARD:0022531,GARD:0016667,,Rare genetic disease +GARD:0018060,GARD:0022524,GARD:0016667,,Rare neurologic disease +GARD:0018061,GARD:0022531,GARD:0016667,,Rare genetic disease +GARD:0018061,GARD:0022524,GARD:0016667,,Rare neurologic disease +GARD:0018062,GARD:0022510,GARD:0016680,,Rare skin disease +GARD:0018062,GARD:0022513,GARD:0016680,,Rare developmental defect during embryogenesis +GARD:0018062,GARD:0022531,GARD:0016680,,Rare genetic disease +GARD:0018063,GARD:0022510,GARD:0016680,,Rare skin disease +GARD:0018063,GARD:0022531,GARD:0016680,,Rare genetic disease +GARD:0018063,GARD:0022513,GARD:0016680,,Rare developmental defect during embryogenesis +GARD:0018064,GARD:0022531,GARD:0016680,,Rare genetic disease +GARD:0018064,GARD:0022510,GARD:0016680,,Rare skin disease +GARD:0018064,GARD:0022513,GARD:0016680,,Rare developmental defect during embryogenesis +GARD:0018065,GARD:0022510,GARD:0016680,,Rare skin disease +GARD:0018065,GARD:0022531,GARD:0016680,,Rare genetic disease +GARD:0018065,GARD:0022513,GARD:0016680,,Rare developmental defect during embryogenesis +GARD:0018066,GARD:0022531,GARD:0016680,,Rare genetic disease +GARD:0018066,GARD:0022513,GARD:0016680,,Rare developmental defect during embryogenesis +GARD:0018066,GARD:0022510,GARD:0016680,,Rare skin disease +GARD:0018067,GARD:0022508,GARD:0016685,,Rare inborn errors of metabolism +GARD:0018067,GARD:0022531,GARD:0016685,,Rare genetic disease +GARD:0018067,GARD:0022520,GARD:0016685,,Rare ophthalmic disorder +GARD:0018067,GARD:0022524,GARD:0016685,,Rare neurologic disease +GARD:0018068,GARD:0022531,GARD:0016687,,Rare genetic disease +GARD:0018068,GARD:0022522,GARD:0016687,,Rare hematologic disease +GARD:0018068,GARD:0022513,GARD:0016687,,Rare developmental defect during embryogenesis +GARD:0018068,GARD:0022511,GARD:0016687,,Rare bone disease +GARD:0018069,GARD:0022511,GARD:0016687,,Rare bone disease +GARD:0018069,GARD:0022522,GARD:0016687,,Rare hematologic disease +GARD:0018069,GARD:0022513,GARD:0016687,,Rare developmental defect during embryogenesis +GARD:0018069,GARD:0022531,GARD:0016687,,Rare genetic disease +GARD:0018070,GARD:0022531,GARD:0016692,,Rare genetic disease +GARD:0018070,GARD:0022515,GARD:0016692,,Rare cardiac disease +GARD:0018070,GARD:0022536,GARD:0016692,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018071,GARD:0022531,GARD:0016692,,Rare genetic disease +GARD:0018071,GARD:0022515,GARD:0016692,,Rare cardiac disease +GARD:0018071,GARD:0022536,GARD:0016692,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018072,GARD:0022536,GARD:0016692,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018072,GARD:0022531,GARD:0016692,,Rare genetic disease +GARD:0018072,GARD:0022515,GARD:0016692,,Rare cardiac disease +GARD:0018073,GARD:0022531,GARD:0016706,,Rare genetic disease +GARD:0018073,GARD:0022510,GARD:0016706,,Rare skin disease +GARD:0018074,GARD:0022510,GARD:0016706,,Rare skin disease +GARD:0018074,GARD:0022531,GARD:0016706,,Rare genetic disease +GARD:0018075,GARD:0022508,GARD:0016724,,Rare inborn errors of metabolism +GARD:0018075,GARD:0022531,GARD:0016724,,Rare genetic disease +GARD:0018075,GARD:0022521,GARD:0016724,,Rare endocrine disease +GARD:0018076,GARD:0022508,GARD:0016724,,Rare inborn errors of metabolism +GARD:0018076,GARD:0022521,GARD:0016724,,Rare endocrine disease +GARD:0018076,GARD:0022531,GARD:0016724,,Rare genetic disease +GARD:0018077,GARD:0022531,GARD:0010341,,Rare genetic disease +GARD:0018077,GARD:0022524,GARD:0010341,,Rare neurologic disease +GARD:0018077,GARD:0022513,GARD:0010341,,Rare developmental defect during embryogenesis +GARD:0018078,GARD:0022531,GARD:0010341,,Rare genetic disease +GARD:0018078,GARD:0022513,GARD:0010341,,Rare developmental defect during embryogenesis +GARD:0018078,GARD:0022524,GARD:0010341,,Rare neurologic disease +GARD:0018079,GARD:0022513,GARD:0010341,,Rare developmental defect during embryogenesis +GARD:0018079,GARD:0022524,GARD:0010341,,Rare neurologic disease +GARD:0018079,GARD:0022531,GARD:0010341,,Rare genetic disease +GARD:0018080,GARD:0022536,GARD:0016730,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018080,GARD:0022512,GARD:0016730,,Rare renal disease +GARD:0018080,GARD:0022531,GARD:0016730,,Rare genetic disease +GARD:0018081,GARD:0022536,GARD:0016730,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018081,GARD:0022512,GARD:0016730,,Rare renal disease +GARD:0018081,GARD:0022531,GARD:0016730,,Rare genetic disease +GARD:0018082,GARD:0022524,GARD:0016758,,Rare neurologic disease +GARD:0018082,GARD:0022531,GARD:0016758,,Rare genetic disease +GARD:0018083,GARD:0022531,GARD:0016758,,Rare genetic disease +GARD:0018083,GARD:0022524,GARD:0016758,,Rare neurologic disease +GARD:0018084,GARD:0022531,GARD:0016758,,Rare genetic disease +GARD:0018084,GARD:0022524,GARD:0016758,,Rare neurologic disease +GARD:0018085,GARD:0022531,GARD:0016758,,Rare genetic disease +GARD:0018085,GARD:0022524,GARD:0016758,,Rare neurologic disease +GARD:0018086,GARD:0022531,GARD:0016758,,Rare genetic disease +GARD:0018086,GARD:0022524,GARD:0016758,,Rare neurologic disease +GARD:0018087,GARD:0022521,GARD:0016771,,Rare endocrine disease +GARD:0018087,GARD:0022514,GARD:0016771,,Rare gynecologic or obstetric disease +GARD:0018087,GARD:0022529,GARD:0016771,,Rare infertility +GARD:0018087,GARD:0022524,GARD:0016771,,Rare neurologic disease +GARD:0018087,GARD:0022531,GARD:0016771,,Rare genetic disease +GARD:0018088,GARD:0022529,GARD:0016771,,Rare infertility +GARD:0018088,GARD:0022524,GARD:0016771,,Rare neurologic disease +GARD:0018088,GARD:0022531,GARD:0016771,,Rare genetic disease +GARD:0018088,GARD:0022514,GARD:0016771,,Rare gynecologic or obstetric disease +GARD:0018088,GARD:0022521,GARD:0016771,,Rare endocrine disease +GARD:0018089,GARD:0022522,GARD:0016784,,Rare hematologic disease +GARD:0018089,GARD:0022531,GARD:0016784,,Rare genetic disease +GARD:0018090,GARD:0022531,GARD:0016784,,Rare genetic disease +GARD:0018090,GARD:0022522,GARD:0016784,,Rare hematologic disease +GARD:0018091,GARD:0022524,GARD:0016787,,Rare neurologic disease +GARD:0018091,GARD:0022531,GARD:0016787,,Rare genetic disease +GARD:0018092,GARD:0022524,GARD:0016787,,Rare neurologic disease +GARD:0018092,GARD:0022531,GARD:0016787,,Rare genetic disease +GARD:0018093,GARD:0022531,GARD:0016789,,Rare genetic disease +GARD:0018093,GARD:0022510,GARD:0016789,,Rare skin disease +GARD:0018094,GARD:0022531,GARD:0016789,,Rare genetic disease +GARD:0018094,GARD:0022510,GARD:0016789,,Rare skin disease +GARD:0018095,GARD:0022528,GARD:0016790,,Rare otorhinolaryngologic disease +GARD:0018095,GARD:0022531,GARD:0016790,,Rare genetic disease +GARD:0018096,GARD:0022531,GARD:0016790,,Rare genetic disease +GARD:0018096,GARD:0022528,GARD:0016790,,Rare otorhinolaryngologic disease +GARD:0018097,GARD:0022531,GARD:0016790,,Rare genetic disease +GARD:0018097,GARD:0022528,GARD:0016790,,Rare otorhinolaryngologic disease +GARD:0018098,GARD:0022531,GARD:0016790,,Rare genetic disease +GARD:0018098,GARD:0022528,GARD:0016790,,Rare otorhinolaryngologic disease +GARD:0018099,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018099,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018100,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018100,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018101,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018101,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018102,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018102,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018103,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018103,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018104,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018104,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018105,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018105,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018106,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018106,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018107,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018107,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018108,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018108,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018109,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018109,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018110,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018110,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018111,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018111,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018112,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018112,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018113,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018113,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018114,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018114,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018115,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018115,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018116,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018116,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018117,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018117,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018118,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018118,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018119,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018119,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018120,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018120,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018121,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018121,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018122,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018122,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018123,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018123,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018124,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018124,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018125,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018125,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018126,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018126,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018127,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018127,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018128,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018128,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018129,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018129,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018130,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018130,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018131,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018131,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018132,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018132,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018133,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018133,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018134,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018134,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018135,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018135,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018136,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018136,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018137,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018137,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018138,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018138,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018139,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018139,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018140,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018140,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018141,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018141,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018142,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018142,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018143,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018143,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018144,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018144,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018145,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018145,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018146,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018146,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018147,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018147,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018148,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018148,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018149,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018149,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018150,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018150,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018151,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018151,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018152,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0018152,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018152,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0018152,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018153,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018153,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018154,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018154,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018155,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018155,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018156,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018156,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018157,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018157,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018158,GARD:0022528,GARD:0016791,,Rare otorhinolaryngologic disease +GARD:0018158,GARD:0022531,GARD:0016791,,Rare genetic disease +GARD:0018159,GARD:0022528,GARD:0016792,,Rare otorhinolaryngologic disease +GARD:0018159,GARD:0022508,GARD:0016792,,Rare inborn errors of metabolism +GARD:0018159,GARD:0022531,GARD:0016792,,Rare genetic disease +GARD:0018160,GARD:0022531,GARD:0016792,,Rare genetic disease +GARD:0018160,GARD:0022508,GARD:0016792,,Rare inborn errors of metabolism +GARD:0018160,GARD:0022528,GARD:0016792,,Rare otorhinolaryngologic disease +GARD:0018161,GARD:0022528,GARD:0016792,,Rare otorhinolaryngologic disease +GARD:0018161,GARD:0022531,GARD:0016792,,Rare genetic disease +GARD:0018161,GARD:0022508,GARD:0016792,,Rare inborn errors of metabolism +GARD:0018162,GARD:0022531,GARD:0016798,,Rare genetic disease +GARD:0018162,GARD:0022520,GARD:0016798,,Rare ophthalmic disorder +GARD:0018162,GARD:0022513,GARD:0016798,,Rare developmental defect during embryogenesis +GARD:0018163,GARD:0022513,GARD:0016798,,Rare developmental defect during embryogenesis +GARD:0018163,GARD:0022531,GARD:0016798,,Rare genetic disease +GARD:0018163,GARD:0022520,GARD:0016798,,Rare ophthalmic disorder +GARD:0018164,GARD:0022531,GARD:0016798,,Rare genetic disease +GARD:0018164,GARD:0022513,GARD:0016798,,Rare developmental defect during embryogenesis +GARD:0018164,GARD:0022520,GARD:0016798,,Rare ophthalmic disorder +GARD:0018165,GARD:0022531,GARD:0016799,,Rare genetic disease +GARD:0018165,GARD:0022520,GARD:0016799,,Rare ophthalmic disorder +GARD:0018166,GARD:0022531,GARD:0016799,,Rare genetic disease +GARD:0018166,GARD:0022520,GARD:0016799,,Rare ophthalmic disorder +GARD:0018167,GARD:0022520,GARD:0016803,,Rare ophthalmic disorder +GARD:0018167,GARD:0022531,GARD:0016803,,Rare genetic disease +GARD:0018168,GARD:0022531,GARD:0016803,,Rare genetic disease +GARD:0018168,GARD:0022520,GARD:0016803,,Rare ophthalmic disorder +GARD:0018169,GARD:0022531,GARD:0016805,,Rare genetic disease +GARD:0018169,GARD:0022513,GARD:0016805,,Rare developmental defect during embryogenesis +GARD:0018169,GARD:0022521,GARD:0016805,,Rare endocrine disease +GARD:0018169,GARD:0022511,GARD:0016805,,Rare bone disease +GARD:0018170,GARD:0022511,GARD:0016805,,Rare bone disease +GARD:0018170,GARD:0022513,GARD:0016805,,Rare developmental defect during embryogenesis +GARD:0018170,GARD:0022531,GARD:0016805,,Rare genetic disease +GARD:0018170,GARD:0022521,GARD:0016805,,Rare endocrine disease +GARD:0018171,GARD:0022513,GARD:0016805,,Rare developmental defect during embryogenesis +GARD:0018171,GARD:0022511,GARD:0016805,,Rare bone disease +GARD:0018171,GARD:0022531,GARD:0016805,,Rare genetic disease +GARD:0018171,GARD:0022521,GARD:0016805,,Rare endocrine disease +GARD:0018172,GARD:0022531,GARD:0016817,,Rare genetic disease +GARD:0018172,GARD:0022513,GARD:0016817,,Rare developmental defect during embryogenesis +GARD:0018172,GARD:0022511,GARD:0016817,,Rare bone disease +GARD:0018173,GARD:0022531,GARD:0016817,,Rare genetic disease +GARD:0018173,GARD:0022511,GARD:0016817,,Rare bone disease +GARD:0018173,GARD:0022513,GARD:0016817,,Rare developmental defect during embryogenesis +GARD:0018174,GARD:0022513,GARD:0016817,,Rare developmental defect during embryogenesis +GARD:0018174,GARD:0022511,GARD:0016817,,Rare bone disease +GARD:0018174,GARD:0022531,GARD:0016817,,Rare genetic disease +GARD:0018175,GARD:0022511,GARD:0016817,,Rare bone disease +GARD:0018175,GARD:0022513,GARD:0016817,,Rare developmental defect during embryogenesis +GARD:0018175,GARD:0022531,GARD:0016817,,Rare genetic disease +GARD:0018176,GARD:0022513,GARD:0016817,,Rare developmental defect during embryogenesis +GARD:0018176,GARD:0022511,GARD:0016817,,Rare bone disease +GARD:0018176,GARD:0022531,GARD:0016817,,Rare genetic disease +GARD:0018177,GARD:0022531,GARD:0016817,,Rare genetic disease +GARD:0018177,GARD:0022511,GARD:0016817,,Rare bone disease +GARD:0018177,GARD:0022513,GARD:0016817,,Rare developmental defect during embryogenesis +GARD:0018178,GARD:0022513,GARD:0016817,,Rare developmental defect during embryogenesis +GARD:0018178,GARD:0022531,GARD:0016817,,Rare genetic disease +GARD:0018178,GARD:0022511,GARD:0016817,,Rare bone disease +GARD:0018179,GARD:0022531,GARD:0016824,,Rare genetic disease +GARD:0018179,GARD:0022512,GARD:0016824,,Rare renal disease +GARD:0018179,GARD:0022536,GARD:0016824,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018180,GARD:0022536,GARD:0016824,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018180,GARD:0022531,GARD:0016824,,Rare genetic disease +GARD:0018180,GARD:0022512,GARD:0016824,,Rare renal disease +GARD:0018181,GARD:0022531,GARD:0016824,,Rare genetic disease +GARD:0018181,GARD:0022536,GARD:0016824,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018181,GARD:0022512,GARD:0016824,,Rare renal disease +GARD:0018182,GARD:0022531,GARD:0016825,,Rare genetic disease +GARD:0018182,GARD:0022536,GARD:0016825,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018182,GARD:0022512,GARD:0016825,,Rare renal disease +GARD:0018183,GARD:0022536,GARD:0018645,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018183,GARD:0022531,GARD:0016825,,Rare genetic disease +GARD:0018183,GARD:0022512,GARD:0016825,,Rare renal disease +GARD:0018183,GARD:0022531,GARD:0018645,,Rare genetic disease +GARD:0018183,GARD:0022536,GARD:0016825,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018183,GARD:0022512,GARD:0018645,,Rare renal disease +GARD:0018184,GARD:0022513,GARD:0016840,,Rare developmental defect during embryogenesis +GARD:0018184,GARD:0022531,GARD:0016840,,Rare genetic disease +GARD:0018184,GARD:0022532,GARD:0016840,,Rare urogenital disease +GARD:0018184,GARD:0022536,GARD:0016840,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018185,GARD:0022536,GARD:0016840,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018185,GARD:0022532,GARD:0016840,,Rare urogenital disease +GARD:0018185,GARD:0022531,GARD:0016840,,Rare genetic disease +GARD:0018185,GARD:0022513,GARD:0016840,,Rare developmental defect during embryogenesis +GARD:0018186,GARD:0022532,GARD:0016840,,Rare urogenital disease +GARD:0018186,GARD:0022513,GARD:0016840,,Rare developmental defect during embryogenesis +GARD:0018186,GARD:0022531,GARD:0016840,,Rare genetic disease +GARD:0018186,GARD:0022536,GARD:0016840,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018187,GARD:0022513,GARD:0016840,,Rare developmental defect during embryogenesis +GARD:0018187,GARD:0022536,GARD:0016840,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018187,GARD:0022532,GARD:0016840,,Rare urogenital disease +GARD:0018187,GARD:0022531,GARD:0016840,,Rare genetic disease +GARD:0018188,GARD:0022531,GARD:0016843,,Rare genetic disease +GARD:0018188,GARD:0022524,GARD:0016843,,Rare neurologic disease +GARD:0018188,GARD:0022521,GARD:0016843,,Rare endocrine disease +GARD:0018189,GARD:0022524,GARD:0016843,,Rare neurologic disease +GARD:0018189,GARD:0022531,GARD:0016843,,Rare genetic disease +GARD:0018189,GARD:0022521,GARD:0016843,,Rare endocrine disease +GARD:0018190,GARD:0022531,GARD:0016843,,Rare genetic disease +GARD:0018190,GARD:0022521,GARD:0016843,,Rare endocrine disease +GARD:0018190,GARD:0022524,GARD:0016843,,Rare neurologic disease +GARD:0018191,GARD:0022524,GARD:0016843,,Rare neurologic disease +GARD:0018191,GARD:0022521,GARD:0016843,,Rare endocrine disease +GARD:0018191,GARD:0022531,GARD:0016843,,Rare genetic disease +GARD:0018192,GARD:0022524,GARD:0016843,,Rare neurologic disease +GARD:0018192,GARD:0022531,GARD:0016843,,Rare genetic disease +GARD:0018192,GARD:0022521,GARD:0016843,,Rare endocrine disease +GARD:0018193,GARD:0022521,GARD:0016843,,Rare endocrine disease +GARD:0018193,GARD:0022531,GARD:0016843,,Rare genetic disease +GARD:0018193,GARD:0022524,GARD:0016843,,Rare neurologic disease +GARD:0018194,GARD:0022535,GARD:0016855,,Rare neoplastic disease +GARD:0018194,GARD:0022522,GARD:0016855,,Rare hematologic disease +GARD:0018194,GARD:0022536,GARD:0016855,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018195,GARD:0022508,GARD:0016856,,Rare inborn errors of metabolism +GARD:0018195,GARD:0022531,GARD:0016856,,Rare genetic disease +GARD:0018195,GARD:0022522,GARD:0016856,,Rare hematologic disease +GARD:0018196,GARD:0022508,GARD:0016856,,Rare inborn errors of metabolism +GARD:0018196,GARD:0022522,GARD:0016856,,Rare hematologic disease +GARD:0018196,GARD:0022531,GARD:0016856,,Rare genetic disease +GARD:0018197,GARD:0022520,GARD:0016859,,Rare ophthalmic disorder +GARD:0018197,GARD:0022531,GARD:0016859,,Rare genetic disease +GARD:0018198,GARD:0022531,GARD:0016859,,Rare genetic disease +GARD:0018198,GARD:0022520,GARD:0016859,,Rare ophthalmic disorder +GARD:0018199,GARD:0022520,GARD:0016860,,Rare ophthalmic disorder +GARD:0018199,GARD:0022531,GARD:0016860,,Rare genetic disease +GARD:0018200,GARD:0022520,GARD:0016860,,Rare ophthalmic disorder +GARD:0018200,GARD:0022531,GARD:0016860,,Rare genetic disease +GARD:0018201,GARD:0022520,GARD:0016860,,Rare ophthalmic disorder +GARD:0018201,GARD:0022531,GARD:0016860,,Rare genetic disease +GARD:0018202,GARD:0022531,GARD:0013295,,Rare genetic disease +GARD:0018202,GARD:0022524,GARD:0013295,,Rare neurologic disease +GARD:0018203,GARD:0022531,GARD:0013295,,Rare genetic disease +GARD:0018203,GARD:0022524,GARD:0013295,,Rare neurologic disease +GARD:0018204,GARD:0022524,GARD:0013295,,Rare neurologic disease +GARD:0018204,GARD:0022531,GARD:0013295,,Rare genetic disease +GARD:0018205,GARD:0022536,GARD:0016864,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018205,GARD:0022517,GARD:0016864,,Rare respiratory disease +GARD:0018206,GARD:0022536,GARD:0016865,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018206,GARD:0022515,GARD:0016865,,Rare cardiac disease +GARD:0018206,GARD:0022524,GARD:0016865,,Rare neurologic disease +GARD:0018206,GARD:0022531,GARD:0016865,,Rare genetic disease +GARD:0018207,GARD:0022515,GARD:0016865,,Rare cardiac disease +GARD:0018207,GARD:0022531,GARD:0016865,,Rare genetic disease +GARD:0018207,GARD:0022536,GARD:0016865,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018207,GARD:0022524,GARD:0016865,,Rare neurologic disease +GARD:0018208,GARD:0022524,GARD:0016865,,Rare neurologic disease +GARD:0018208,GARD:0022515,GARD:0016865,,Rare cardiac disease +GARD:0018208,GARD:0022536,GARD:0016865,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018208,GARD:0022531,GARD:0016865,,Rare genetic disease +GARD:0018209,GARD:0022524,GARD:0016866,,Rare neurologic disease +GARD:0018209,GARD:0022515,GARD:0016866,,Rare cardiac disease +GARD:0018209,GARD:0022536,GARD:0016866,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018209,GARD:0022531,GARD:0016866,,Rare genetic disease +GARD:0018210,GARD:0022524,GARD:0016872,,Rare neurologic disease +GARD:0018210,GARD:0022531,GARD:0016872,,Rare genetic disease +GARD:0018210,GARD:0022520,GARD:0016872,,Rare ophthalmic disorder +GARD:0018210,GARD:0022513,GARD:0016872,,Rare developmental defect during embryogenesis +GARD:0018211,GARD:0022524,GARD:0016873,,Rare neurologic disease +GARD:0018212,GARD:0022513,GARD:0016882,,Rare developmental defect during embryogenesis +GARD:0018212,GARD:0022531,GARD:0016882,,Rare genetic disease +GARD:0018212,GARD:0022520,GARD:0016882,,Rare ophthalmic disorder +GARD:0018213,GARD:0022513,GARD:0016882,,Rare developmental defect during embryogenesis +GARD:0018213,GARD:0022531,GARD:0016882,,Rare genetic disease +GARD:0018213,GARD:0022520,GARD:0016882,,Rare ophthalmic disorder +GARD:0018214,GARD:0022513,GARD:0016882,,Rare developmental defect during embryogenesis +GARD:0018214,GARD:0022520,GARD:0016882,,Rare ophthalmic disorder +GARD:0018214,GARD:0022531,GARD:0016882,,Rare genetic disease +GARD:0018215,GARD:0022531,GARD:0016882,,Rare genetic disease +GARD:0018215,GARD:0022520,GARD:0016882,,Rare ophthalmic disorder +GARD:0018215,GARD:0022513,GARD:0016882,,Rare developmental defect during embryogenesis +GARD:0018216,GARD:0022520,GARD:0010018,,Rare ophthalmic disorder +GARD:0018216,GARD:0022531,GARD:0010018,,Rare genetic disease +GARD:0018217,GARD:0022520,GARD:0010018,,Rare ophthalmic disorder +GARD:0018217,GARD:0022531,GARD:0010018,,Rare genetic disease +GARD:0018218,GARD:0022531,GARD:0010018,,Rare genetic disease +GARD:0018218,GARD:0022520,GARD:0010018,,Rare ophthalmic disorder +GARD:0018219,GARD:0022520,GARD:0010018,,Rare ophthalmic disorder +GARD:0018219,GARD:0022531,GARD:0010018,,Rare genetic disease +GARD:0018220,GARD:0022531,GARD:0010018,,Rare genetic disease +GARD:0018220,GARD:0022520,GARD:0010018,,Rare ophthalmic disorder +GARD:0018221,GARD:0022531,GARD:0010018,,Rare genetic disease +GARD:0018221,GARD:0022520,GARD:0010018,,Rare ophthalmic disorder +GARD:0018222,GARD:0022531,GARD:0010018,,Rare genetic disease +GARD:0018222,GARD:0022520,GARD:0010018,,Rare ophthalmic disorder +GARD:0018223,GARD:0022531,GARD:0010018,,Rare genetic disease +GARD:0018223,GARD:0022520,GARD:0010018,,Rare ophthalmic disorder +GARD:0018224,GARD:0022513,GARD:0002485,,Rare developmental defect during embryogenesis +GARD:0018224,GARD:0022531,GARD:0016883,,Rare genetic disease +GARD:0018224,GARD:0022531,GARD:0002485,,Rare genetic disease +GARD:0018224,GARD:0022520,GARD:0016883,,Rare ophthalmic disorder +GARD:0018224,GARD:0022513,GARD:0016883,,Rare developmental defect during embryogenesis +GARD:0018224,GARD:0022520,GARD:0002485,,Rare ophthalmic disorder +GARD:0018225,GARD:0022513,GARD:0002485,,Rare developmental defect during embryogenesis +GARD:0018225,GARD:0022520,GARD:0002485,,Rare ophthalmic disorder +GARD:0018225,GARD:0022531,GARD:0002485,,Rare genetic disease +GARD:0018226,GARD:0022513,GARD:0002485,,Rare developmental defect during embryogenesis +GARD:0018226,GARD:0022520,GARD:0002485,,Rare ophthalmic disorder +GARD:0018226,GARD:0022531,GARD:0002485,,Rare genetic disease +GARD:0018227,GARD:0022531,GARD:0002485,,Rare genetic disease +GARD:0018227,GARD:0022520,GARD:0002485,,Rare ophthalmic disorder +GARD:0018227,GARD:0022513,GARD:0002485,,Rare developmental defect during embryogenesis +GARD:0018228,GARD:0022520,GARD:0016883,,Rare ophthalmic disorder +GARD:0018228,GARD:0022513,GARD:0016883,,Rare developmental defect during embryogenesis +GARD:0018228,GARD:0022531,GARD:0016883,,Rare genetic disease +GARD:0018229,GARD:0022513,GARD:0016883,,Rare developmental defect during embryogenesis +GARD:0018229,GARD:0022531,GARD:0016883,,Rare genetic disease +GARD:0018229,GARD:0022520,GARD:0016883,,Rare ophthalmic disorder +GARD:0018230,GARD:0022513,GARD:0016883,,Rare developmental defect during embryogenesis +GARD:0018230,GARD:0022531,GARD:0016883,,Rare genetic disease +GARD:0018230,GARD:0022520,GARD:0016883,,Rare ophthalmic disorder +GARD:0018231,GARD:0022520,GARD:0016883,,Rare ophthalmic disorder +GARD:0018231,GARD:0022531,GARD:0016883,,Rare genetic disease +GARD:0018231,GARD:0022513,GARD:0016883,,Rare developmental defect during embryogenesis +GARD:0018232,GARD:0022513,GARD:0016885,,Rare developmental defect during embryogenesis +GARD:0018232,GARD:0022531,GARD:0016885,,Rare genetic disease +GARD:0018232,GARD:0022520,GARD:0016885,,Rare ophthalmic disorder +GARD:0018233,GARD:0022513,GARD:0016886,,Rare developmental defect during embryogenesis +GARD:0018233,GARD:0022520,GARD:0016886,,Rare ophthalmic disorder +GARD:0018233,GARD:0022531,GARD:0016886,,Rare genetic disease +GARD:0018234,GARD:0022520,GARD:0016887,,Rare ophthalmic disorder +GARD:0018234,GARD:0022531,GARD:0016887,,Rare genetic disease +GARD:0018234,GARD:0022513,GARD:0016887,,Rare developmental defect during embryogenesis +GARD:0018235,GARD:0022520,GARD:0016887,,Rare ophthalmic disorder +GARD:0018235,GARD:0022531,GARD:0016887,,Rare genetic disease +GARD:0018235,GARD:0022513,GARD:0016887,,Rare developmental defect during embryogenesis +GARD:0018236,GARD:0022520,GARD:0016887,,Rare ophthalmic disorder +GARD:0018236,GARD:0022513,GARD:0016887,,Rare developmental defect during embryogenesis +GARD:0018236,GARD:0022531,GARD:0016887,,Rare genetic disease +GARD:0018237,GARD:0022531,GARD:0016890,,Rare genetic disease +GARD:0018237,GARD:0022520,GARD:0016890,,Rare ophthalmic disorder +GARD:0018238,GARD:0022531,GARD:0016890,,Rare genetic disease +GARD:0018238,GARD:0022520,GARD:0016890,,Rare ophthalmic disorder +GARD:0018239,GARD:0022531,GARD:0016891,,Rare genetic disease +GARD:0018239,GARD:0022520,GARD:0016891,,Rare ophthalmic disorder +GARD:0018240,GARD:0022531,GARD:0016891,,Rare genetic disease +GARD:0018240,GARD:0022520,GARD:0016891,,Rare ophthalmic disorder +GARD:0018241,GARD:0022520,GARD:0016891,,Rare ophthalmic disorder +GARD:0018241,GARD:0022531,GARD:0016891,,Rare genetic disease +GARD:0018242,GARD:0022527,GARD:0016892,,Rare circulatory system disease +GARD:0018242,GARD:0022513,GARD:0016892,,Rare developmental defect during embryogenesis +GARD:0018242,GARD:0022519,GARD:0016892,,Rare surgical cardiac disease +GARD:0018243,GARD:0022507,GARD:0016907,,Rare maxillo-facial surgical disease +GARD:0018243,GARD:0022513,GARD:0016907,,Rare developmental defect during embryogenesis +GARD:0018244,GARD:0022526,GARD:0016908,,Rare odontologic disease +GARD:0018244,GARD:0022531,GARD:0016908,,Rare genetic disease +GARD:0018245,GARD:0022531,GARD:0016908,,Rare genetic disease +GARD:0018245,GARD:0022526,GARD:0016908,,Rare odontologic disease +GARD:0018246,GARD:0022526,GARD:0016908,,Rare odontologic disease +GARD:0018246,GARD:0022531,GARD:0016908,,Rare genetic disease +GARD:0018247,GARD:0022526,GARD:0016908,,Rare odontologic disease +GARD:0018247,GARD:0022531,GARD:0016908,,Rare genetic disease +GARD:0018248,GARD:0022531,GARD:0016908,,Rare genetic disease +GARD:0018248,GARD:0022526,GARD:0016908,,Rare odontologic disease +GARD:0018249,GARD:0022526,GARD:0016908,,Rare odontologic disease +GARD:0018249,GARD:0022531,GARD:0016908,,Rare genetic disease +GARD:0018250,GARD:0022531,GARD:0016908,,Rare genetic disease +GARD:0018250,GARD:0022526,GARD:0016908,,Rare odontologic disease +GARD:0018251,GARD:0022508,GARD:0016916,,Rare inborn errors of metabolism +GARD:0018251,GARD:0022531,GARD:0016916,,Rare genetic disease +GARD:0018251,GARD:0022524,GARD:0016916,,Rare neurologic disease +GARD:0018252,GARD:0022531,GARD:0016918,,Rare genetic disease +GARD:0018252,GARD:0022524,GARD:0016918,,Rare neurologic disease +GARD:0018253,GARD:0022521,GARD:0016923,,Rare endocrine disease +GARD:0018253,GARD:0022535,GARD:0016923,,Rare neoplastic disease +GARD:0018253,GARD:0022531,GARD:0016923,,Rare genetic disease +GARD:0018254,GARD:0022535,GARD:0016923,,Rare neoplastic disease +GARD:0018254,GARD:0022531,GARD:0016923,,Rare genetic disease +GARD:0018254,GARD:0022521,GARD:0016923,,Rare endocrine disease +GARD:0018255,GARD:0022521,GARD:0016923,,Rare endocrine disease +GARD:0018255,GARD:0022535,GARD:0016923,,Rare neoplastic disease +GARD:0018255,GARD:0022531,GARD:0016923,,Rare genetic disease +GARD:0018256,GARD:0022531,GARD:0016923,,Rare genetic disease +GARD:0018256,GARD:0022521,GARD:0016923,,Rare endocrine disease +GARD:0018256,GARD:0022535,GARD:0016923,,Rare neoplastic disease +GARD:0018257,GARD:0022531,GARD:0016923,,Rare genetic disease +GARD:0018257,GARD:0022521,GARD:0016923,,Rare endocrine disease +GARD:0018257,GARD:0022535,GARD:0016923,,Rare neoplastic disease +GARD:0018258,GARD:0022526,GARD:0016931,,Rare odontologic disease +GARD:0018258,GARD:0022531,GARD:0016931,,Rare genetic disease +GARD:0018259,GARD:0022525,GARD:0016936,,Rare systemic or rheumatologic disease +GARD:0018259,GARD:0022530,GARD:0016936,,Rare allergic disease +GARD:0018260,GARD:0022536,GARD:0016945,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018260,GARD:0022516,GARD:0016945,,Rare gastroenterologic disease +GARD:0018260,GARD:0022531,GARD:0016945,,Rare genetic disease +GARD:0018261,GARD:0022516,GARD:0016945,,Rare gastroenterologic disease +GARD:0018261,GARD:0022536,GARD:0016945,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018261,GARD:0022531,GARD:0016945,,Rare genetic disease +GARD:0018262,GARD:0022524,GARD:0016954,,Rare neurologic disease +GARD:0018262,GARD:0022531,GARD:0016954,,Rare genetic disease +GARD:0018263,GARD:0022524,GARD:0016954,,Rare neurologic disease +GARD:0018263,GARD:0022531,GARD:0016954,,Rare genetic disease +GARD:0018264,GARD:0022531,GARD:0016954,,Rare genetic disease +GARD:0018264,GARD:0022524,GARD:0016954,,Rare neurologic disease +GARD:0018265,GARD:0022524,GARD:0016954,,Rare neurologic disease +GARD:0018265,GARD:0022531,GARD:0016954,,Rare genetic disease +GARD:0018266,GARD:0022531,GARD:0016955,,Rare genetic disease +GARD:0018266,GARD:0022524,GARD:0016955,,Rare neurologic disease +GARD:0018267,GARD:0022531,GARD:0016955,,Rare genetic disease +GARD:0018267,GARD:0022524,GARD:0016955,,Rare neurologic disease +GARD:0018268,GARD:0022524,GARD:0016955,,Rare neurologic disease +GARD:0018268,GARD:0022531,GARD:0016955,,Rare genetic disease +GARD:0018269,GARD:0022531,GARD:0016960,,Rare genetic disease +GARD:0018269,GARD:0022524,GARD:0016960,,Rare neurologic disease +GARD:0018270,GARD:0022524,GARD:0016960,,Rare neurologic disease +GARD:0018270,GARD:0022531,GARD:0016960,,Rare genetic disease +GARD:0018271,GARD:0022522,GARD:0016965,,Rare hematologic disease +GARD:0018271,GARD:0022531,GARD:0016965,,Rare genetic disease +GARD:0018272,GARD:0022522,GARD:0016965,,Rare hematologic disease +GARD:0018272,GARD:0022531,GARD:0016965,,Rare genetic disease +GARD:0018273,GARD:0022531,GARD:0016965,,Rare genetic disease +GARD:0018273,GARD:0022522,GARD:0016965,,Rare hematologic disease +GARD:0018274,GARD:0022531,GARD:0016969,,Rare genetic disease +GARD:0018274,GARD:0022528,GARD:0016969,,Rare otorhinolaryngologic disease +GARD:0018274,GARD:0022513,GARD:0016969,,Rare developmental defect during embryogenesis +GARD:0018275,GARD:0022528,GARD:0016969,,Rare otorhinolaryngologic disease +GARD:0018275,GARD:0022531,GARD:0016969,,Rare genetic disease +GARD:0018275,GARD:0022513,GARD:0016969,,Rare developmental defect during embryogenesis +GARD:0018276,GARD:0022516,GARD:0016981,,Rare gastroenterologic disease +GARD:0018276,GARD:0022535,GARD:0016981,,Rare neoplastic disease +GARD:0018276,GARD:0022531,GARD:0016981,,Rare genetic disease +GARD:0018276,GARD:0022536,GARD:0016981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018277,GARD:0022531,GARD:0016983,,Rare genetic disease +GARD:0018277,GARD:0022524,GARD:0016983,,Rare neurologic disease +GARD:0018278,GARD:0022524,GARD:0016983,,Rare neurologic disease +GARD:0018278,GARD:0022531,GARD:0016983,,Rare genetic disease +GARD:0018279,GARD:0022531,GARD:0017001,,Rare genetic disease +GARD:0018279,GARD:0022524,GARD:0017001,,Rare neurologic disease +GARD:0018280,GARD:0022524,GARD:0017001,,Rare neurologic disease +GARD:0018280,GARD:0022531,GARD:0017001,,Rare genetic disease +GARD:0018281,GARD:0022531,GARD:0017001,,Rare genetic disease +GARD:0018281,GARD:0022524,GARD:0017001,,Rare neurologic disease +GARD:0018282,GARD:0022531,GARD:0017002,,Rare genetic disease +GARD:0018282,GARD:0022524,GARD:0017002,,Rare neurologic disease +GARD:0018283,GARD:0022524,GARD:0017011,,Rare neurologic disease +GARD:0018283,GARD:0022531,GARD:0017011,,Rare genetic disease +GARD:0018284,GARD:0022531,GARD:0013663,,Rare genetic disease +GARD:0018284,GARD:0022515,GARD:0013663,,Rare cardiac disease +GARD:0018285,GARD:0022531,GARD:0013663,,Rare genetic disease +GARD:0018285,GARD:0022515,GARD:0013663,,Rare cardiac disease +GARD:0018286,GARD:0022531,GARD:0017028,,Rare genetic disease +GARD:0018286,GARD:0022524,GARD:0017028,,Rare neurologic disease +GARD:0018287,GARD:0022524,GARD:0017028,,Rare neurologic disease +GARD:0018287,GARD:0022531,GARD:0017028,,Rare genetic disease +GARD:0018288,GARD:0022522,GARD:0017041,,Rare hematologic disease +GARD:0018288,GARD:0022531,GARD:0017041,,Rare genetic disease +GARD:0018289,GARD:0022522,GARD:0017041,,Rare hematologic disease +GARD:0018289,GARD:0022531,GARD:0017041,,Rare genetic disease +GARD:0018290,GARD:0022531,GARD:0017050,,Rare genetic disease +GARD:0018290,GARD:0022523,GARD:0017050,,Rare immune disease +GARD:0018291,GARD:0022523,GARD:0017050,,Rare immune disease +GARD:0018291,GARD:0022531,GARD:0017050,,Rare genetic disease +GARD:0018292,GARD:0022523,GARD:0017050,,Rare immune disease +GARD:0018292,GARD:0022531,GARD:0017050,,Rare genetic disease +GARD:0018293,GARD:0022536,GARD:0017053,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018293,GARD:0022523,GARD:0017053,,Rare immune disease +GARD:0018293,GARD:0022531,GARD:0017053,,Rare genetic disease +GARD:0018294,GARD:0022536,GARD:0017053,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018294,GARD:0022523,GARD:0017053,,Rare immune disease +GARD:0018294,GARD:0022531,GARD:0017053,,Rare genetic disease +GARD:0018295,GARD:0022523,GARD:0017053,,Rare immune disease +GARD:0018295,GARD:0022531,GARD:0017053,,Rare genetic disease +GARD:0018295,GARD:0022536,GARD:0017053,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018296,GARD:0022523,GARD:0017053,,Rare immune disease +GARD:0018296,GARD:0022536,GARD:0017053,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018296,GARD:0022531,GARD:0017053,,Rare genetic disease +GARD:0018297,GARD:0022524,GARD:0017082,,Rare neurologic disease +GARD:0018297,GARD:0022531,GARD:0017082,,Rare genetic disease +GARD:0018298,GARD:0022531,GARD:0017082,,Rare genetic disease +GARD:0018298,GARD:0022524,GARD:0017082,,Rare neurologic disease +GARD:0018299,GARD:0022523,GARD:0017087,,Rare immune disease +GARD:0018299,GARD:0022531,GARD:0017087,,Rare genetic disease +GARD:0018300,GARD:0022523,GARD:0017087,,Rare immune disease +GARD:0018300,GARD:0022531,GARD:0017087,,Rare genetic disease +GARD:0018301,GARD:0022531,GARD:0017090,,Rare genetic disease +GARD:0018301,GARD:0022508,GARD:0017090,,Rare inborn errors of metabolism +GARD:0018302,GARD:0022508,GARD:0017090,,Rare inborn errors of metabolism +GARD:0018302,GARD:0022531,GARD:0017090,,Rare genetic disease +GARD:0018303,GARD:0022507,GARD:0017092,,Rare maxillo-facial surgical disease +GARD:0018303,GARD:0022513,GARD:0017092,,Rare developmental defect during embryogenesis +GARD:0018304,GARD:0022507,GARD:0017092,,Rare maxillo-facial surgical disease +GARD:0018304,GARD:0022513,GARD:0017092,,Rare developmental defect during embryogenesis +GARD:0018305,GARD:0022513,GARD:0017092,,Rare developmental defect during embryogenesis +GARD:0018305,GARD:0022507,GARD:0017092,,Rare maxillo-facial surgical disease +GARD:0018306,GARD:0022513,GARD:0017092,,Rare developmental defect during embryogenesis +GARD:0018306,GARD:0022507,GARD:0017092,,Rare maxillo-facial surgical disease +GARD:0018307,GARD:0022513,GARD:0017092,,Rare developmental defect during embryogenesis +GARD:0018307,GARD:0022507,GARD:0017092,,Rare maxillo-facial surgical disease +GARD:0018308,GARD:0022513,GARD:0017092,,Rare developmental defect during embryogenesis +GARD:0018308,GARD:0022507,GARD:0017092,,Rare maxillo-facial surgical disease +GARD:0018309,GARD:0022531,GARD:0017109,,Rare genetic disease +GARD:0018309,GARD:0022524,GARD:0017109,,Rare neurologic disease +GARD:0018310,GARD:0022531,GARD:0017109,,Rare genetic disease +GARD:0018310,GARD:0022524,GARD:0017109,,Rare neurologic disease +GARD:0018311,GARD:0022516,GARD:0017133,,Rare gastroenterologic disease +GARD:0018311,GARD:0022536,GARD:0017133,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018311,GARD:0022521,GARD:0017133,,Rare endocrine disease +GARD:0018311,GARD:0022523,GARD:0017133,,Rare immune disease +GARD:0018311,GARD:0022531,GARD:0017133,,Rare genetic disease +GARD:0018312,GARD:0022521,GARD:0017133,,Rare endocrine disease +GARD:0018312,GARD:0022516,GARD:0017133,,Rare gastroenterologic disease +GARD:0018312,GARD:0022536,GARD:0017133,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018312,GARD:0022523,GARD:0017133,,Rare immune disease +GARD:0018312,GARD:0022531,GARD:0017133,,Rare genetic disease +GARD:0018313,GARD:0022531,GARD:0013641,,Rare genetic disease +GARD:0018313,GARD:0022524,GARD:0013641,,Rare neurologic disease +GARD:0018313,GARD:0022527,GARD:0013641,,Rare circulatory system disease +GARD:0018313,GARD:0022513,GARD:0013641,,Rare developmental defect during embryogenesis +GARD:0018314,GARD:0022524,GARD:0013641,,Rare neurologic disease +GARD:0018314,GARD:0022531,GARD:0013641,,Rare genetic disease +GARD:0018314,GARD:0022513,GARD:0013641,,Rare developmental defect during embryogenesis +GARD:0018314,GARD:0022527,GARD:0013641,,Rare circulatory system disease +GARD:0018315,GARD:0022524,GARD:0017141,,Rare neurologic disease +GARD:0018315,GARD:0022531,GARD:0017141,,Rare genetic disease +GARD:0018316,GARD:0022525,GARD:0017156,,Rare systemic or rheumatologic disease +GARD:0018316,GARD:0022513,GARD:0017156,,Rare developmental defect during embryogenesis +GARD:0018316,GARD:0022511,GARD:0017156,,Rare bone disease +GARD:0018316,GARD:0022510,GARD:0017156,,Rare skin disease +GARD:0018316,GARD:0022531,GARD:0017156,,Rare genetic disease +GARD:0018317,GARD:0022510,GARD:0017156,,Rare skin disease +GARD:0018317,GARD:0022525,GARD:0017156,,Rare systemic or rheumatologic disease +GARD:0018317,GARD:0022511,GARD:0017156,,Rare bone disease +GARD:0018317,GARD:0022513,GARD:0017156,,Rare developmental defect during embryogenesis +GARD:0018317,GARD:0022531,GARD:0017156,,Rare genetic disease +GARD:0018318,GARD:0022535,GARD:0017159,,Rare neoplastic disease +GARD:0018318,GARD:0022531,GARD:0017159,,Rare genetic disease +GARD:0018319,GARD:0022531,GARD:0017159,,Rare genetic disease +GARD:0018319,GARD:0022535,GARD:0017159,,Rare neoplastic disease +GARD:0018320,GARD:0022524,GARD:0017161,,Rare neurologic disease +GARD:0018320,GARD:0022531,GARD:0017161,,Rare genetic disease +GARD:0018321,GARD:0022524,GARD:0017161,,Rare neurologic disease +GARD:0018321,GARD:0022531,GARD:0017161,,Rare genetic disease +GARD:0018322,GARD:0022531,GARD:0017161,,Rare genetic disease +GARD:0018322,GARD:0022524,GARD:0017161,,Rare neurologic disease +GARD:0018323,GARD:0022524,GARD:0017161,,Rare neurologic disease +GARD:0018323,GARD:0022531,GARD:0017161,,Rare genetic disease +GARD:0018324,GARD:0022531,GARD:0017161,,Rare genetic disease +GARD:0018324,GARD:0022524,GARD:0017161,,Rare neurologic disease +GARD:0018325,GARD:0022531,GARD:0017161,,Rare genetic disease +GARD:0018325,GARD:0022524,GARD:0017161,,Rare neurologic disease +GARD:0018326,GARD:0022524,GARD:0017161,,Rare neurologic disease +GARD:0018326,GARD:0022531,GARD:0017161,,Rare genetic disease +GARD:0018327,GARD:0022531,GARD:0017161,,Rare genetic disease +GARD:0018327,GARD:0022524,GARD:0017161,,Rare neurologic disease +GARD:0018328,GARD:0022524,GARD:0017161,,Rare neurologic disease +GARD:0018328,GARD:0022531,GARD:0017161,,Rare genetic disease +GARD:0018329,GARD:0022524,GARD:0017161,,Rare neurologic disease +GARD:0018329,GARD:0022531,GARD:0017161,,Rare genetic disease +GARD:0018330,GARD:0022524,GARD:0017161,,Rare neurologic disease +GARD:0018330,GARD:0022531,GARD:0017161,,Rare genetic disease +GARD:0018331,GARD:0022522,GARD:0017168,,Rare hematologic disease +GARD:0018331,GARD:0022531,GARD:0017168,,Rare genetic disease +GARD:0018331,GARD:0022517,GARD:0017168,,Rare respiratory disease +GARD:0018331,GARD:0022536,GARD:0017168,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018331,GARD:0022510,GARD:0017168,,Rare skin disease +GARD:0018331,GARD:0022520,GARD:0017168,,Rare ophthalmic disorder +GARD:0018331,GARD:0022508,GARD:0017168,,Rare inborn errors of metabolism +GARD:0018332,GARD:0022531,GARD:0017168,,Rare genetic disease +GARD:0018332,GARD:0022520,GARD:0017168,,Rare ophthalmic disorder +GARD:0018332,GARD:0022536,GARD:0017168,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018332,GARD:0022522,GARD:0017168,,Rare hematologic disease +GARD:0018332,GARD:0022510,GARD:0017168,,Rare skin disease +GARD:0018332,GARD:0022508,GARD:0017168,,Rare inborn errors of metabolism +GARD:0018332,GARD:0022517,GARD:0017168,,Rare respiratory disease +GARD:0018333,GARD:0022508,GARD:0017169,,Rare inborn errors of metabolism +GARD:0018333,GARD:0022510,GARD:0017169,,Rare skin disease +GARD:0018333,GARD:0022531,GARD:0017169,,Rare genetic disease +GARD:0018333,GARD:0022522,GARD:0017169,,Rare hematologic disease +GARD:0018333,GARD:0022520,GARD:0017169,,Rare ophthalmic disorder +GARD:0018334,GARD:0022520,GARD:0017169,,Rare ophthalmic disorder +GARD:0018334,GARD:0022510,GARD:0017169,,Rare skin disease +GARD:0018334,GARD:0022531,GARD:0017169,,Rare genetic disease +GARD:0018334,GARD:0022522,GARD:0017169,,Rare hematologic disease +GARD:0018334,GARD:0022508,GARD:0017169,,Rare inborn errors of metabolism +GARD:0018335,GARD:0022522,GARD:0017169,,Rare hematologic disease +GARD:0018335,GARD:0022508,GARD:0017169,,Rare inborn errors of metabolism +GARD:0018335,GARD:0022520,GARD:0017169,,Rare ophthalmic disorder +GARD:0018335,GARD:0022531,GARD:0017169,,Rare genetic disease +GARD:0018335,GARD:0022510,GARD:0017169,,Rare skin disease +GARD:0018336,GARD:0022520,GARD:0017170,,Rare ophthalmic disorder +GARD:0018336,GARD:0022510,GARD:0017170,,Rare skin disease +GARD:0018336,GARD:0022508,GARD:0017170,,Rare inborn errors of metabolism +GARD:0018336,GARD:0022531,GARD:0017170,,Rare genetic disease +GARD:0018336,GARD:0022522,GARD:0017170,,Rare hematologic disease +GARD:0018337,GARD:0022522,GARD:0017170,,Rare hematologic disease +GARD:0018337,GARD:0022531,GARD:0017170,,Rare genetic disease +GARD:0018337,GARD:0022508,GARD:0017170,,Rare inborn errors of metabolism +GARD:0018337,GARD:0022520,GARD:0017170,,Rare ophthalmic disorder +GARD:0018337,GARD:0022510,GARD:0017170,,Rare skin disease +GARD:0018338,GARD:0022520,GARD:0017170,,Rare ophthalmic disorder +GARD:0018338,GARD:0022508,GARD:0017170,,Rare inborn errors of metabolism +GARD:0018338,GARD:0022510,GARD:0017170,,Rare skin disease +GARD:0018338,GARD:0022522,GARD:0017170,,Rare hematologic disease +GARD:0018338,GARD:0022531,GARD:0017170,,Rare genetic disease +GARD:0018339,GARD:0022510,GARD:0017170,,Rare skin disease +GARD:0018339,GARD:0022522,GARD:0017170,,Rare hematologic disease +GARD:0018339,GARD:0022508,GARD:0017170,,Rare inborn errors of metabolism +GARD:0018339,GARD:0022520,GARD:0017170,,Rare ophthalmic disorder +GARD:0018339,GARD:0022531,GARD:0017170,,Rare genetic disease +GARD:0018340,GARD:0022536,GARD:0017173,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018340,GARD:0022531,GARD:0017173,,Rare genetic disease +GARD:0018340,GARD:0022506,GARD:0017173,,Rare hepatic disease +GARD:0018340,GARD:0022508,GARD:0017173,,Rare inborn errors of metabolism +GARD:0018341,GARD:0022531,GARD:0017173,,Rare genetic disease +GARD:0018341,GARD:0022506,GARD:0017173,,Rare hepatic disease +GARD:0018341,GARD:0022536,GARD:0017173,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018341,GARD:0022508,GARD:0017173,,Rare inborn errors of metabolism +GARD:0018342,GARD:0022536,GARD:0013016,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018342,GARD:0022525,GARD:0013016,,Rare systemic or rheumatologic disease +GARD:0018342,GARD:0022531,GARD:0013016,,Rare genetic disease +GARD:0018342,GARD:0022523,GARD:0013016,,Rare immune disease +GARD:0018342,GARD:0022516,GARD:0013016,,Rare gastroenterologic disease +GARD:0018343,GARD:0022516,GARD:0013016,,Rare gastroenterologic disease +GARD:0018343,GARD:0022523,GARD:0013016,,Rare immune disease +GARD:0018343,GARD:0022536,GARD:0013016,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018343,GARD:0022531,GARD:0013016,,Rare genetic disease +GARD:0018343,GARD:0022525,GARD:0013016,,Rare systemic or rheumatologic disease +GARD:0018344,GARD:0022524,GARD:0017182,,Rare neurologic disease +GARD:0018344,GARD:0022531,GARD:0017182,,Rare genetic disease +GARD:0018344,GARD:0022520,GARD:0017182,,Rare ophthalmic disorder +GARD:0018345,GARD:0022531,GARD:0017182,,Rare genetic disease +GARD:0018345,GARD:0022524,GARD:0017182,,Rare neurologic disease +GARD:0018345,GARD:0022520,GARD:0017182,,Rare ophthalmic disorder +GARD:0018346,GARD:0022521,GARD:0017186,,Rare endocrine disease +GARD:0018346,GARD:0022513,GARD:0017186,,Rare developmental defect during embryogenesis +GARD:0018346,GARD:0022536,GARD:0017186,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018346,GARD:0022512,GARD:0017186,,Rare renal disease +GARD:0018346,GARD:0022511,GARD:0017186,,Rare bone disease +GARD:0018346,GARD:0022531,GARD:0017186,,Rare genetic disease +GARD:0018347,GARD:0022536,GARD:0017186,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018347,GARD:0022512,GARD:0017186,,Rare renal disease +GARD:0018347,GARD:0022513,GARD:0017186,,Rare developmental defect during embryogenesis +GARD:0018347,GARD:0022511,GARD:0017186,,Rare bone disease +GARD:0018347,GARD:0022531,GARD:0017186,,Rare genetic disease +GARD:0018347,GARD:0022521,GARD:0017186,,Rare endocrine disease +GARD:0018348,GARD:0022531,GARD:0017187,,Rare genetic disease +GARD:0018348,GARD:0022524,GARD:0017187,,Rare neurologic disease +GARD:0018348,GARD:0022513,GARD:0017187,,Rare developmental defect during embryogenesis +GARD:0018349,GARD:0022513,GARD:0017188,,Rare developmental defect during embryogenesis +GARD:0018349,GARD:0022524,GARD:0017188,,Rare neurologic disease +GARD:0018349,GARD:0022508,GARD:0017188,,Rare inborn errors of metabolism +GARD:0018349,GARD:0022511,GARD:0017188,,Rare bone disease +GARD:0018349,GARD:0022531,GARD:0017188,,Rare genetic disease +GARD:0018350,GARD:0022531,GARD:0017188,,Rare genetic disease +GARD:0018350,GARD:0022524,GARD:0017188,,Rare neurologic disease +GARD:0018350,GARD:0022513,GARD:0017188,,Rare developmental defect during embryogenesis +GARD:0018350,GARD:0022508,GARD:0017188,,Rare inborn errors of metabolism +GARD:0018350,GARD:0022511,GARD:0017188,,Rare bone disease +GARD:0018351,GARD:0022531,GARD:0017188,,Rare genetic disease +GARD:0018351,GARD:0022524,GARD:0017188,,Rare neurologic disease +GARD:0018351,GARD:0022508,GARD:0017188,,Rare inborn errors of metabolism +GARD:0018351,GARD:0022513,GARD:0017188,,Rare developmental defect during embryogenesis +GARD:0018351,GARD:0022511,GARD:0017188,,Rare bone disease +GARD:0018352,GARD:0022524,GARD:0017188,,Rare neurologic disease +GARD:0018352,GARD:0022508,GARD:0017188,,Rare inborn errors of metabolism +GARD:0018352,GARD:0022513,GARD:0017188,,Rare developmental defect during embryogenesis +GARD:0018352,GARD:0022511,GARD:0017188,,Rare bone disease +GARD:0018352,GARD:0022531,GARD:0017188,,Rare genetic disease +GARD:0018353,GARD:0022531,GARD:0017188,,Rare genetic disease +GARD:0018353,GARD:0022511,GARD:0017188,,Rare bone disease +GARD:0018353,GARD:0022513,GARD:0017188,,Rare developmental defect during embryogenesis +GARD:0018353,GARD:0022508,GARD:0017188,,Rare inborn errors of metabolism +GARD:0018353,GARD:0022524,GARD:0017188,,Rare neurologic disease +GARD:0018354,GARD:0022508,GARD:0017188,,Rare inborn errors of metabolism +GARD:0018354,GARD:0022531,GARD:0017188,,Rare genetic disease +GARD:0018354,GARD:0022513,GARD:0017188,,Rare developmental defect during embryogenesis +GARD:0018354,GARD:0022524,GARD:0017188,,Rare neurologic disease +GARD:0018354,GARD:0022511,GARD:0017188,,Rare bone disease +GARD:0018355,GARD:0022531,GARD:0017189,,Rare genetic disease +GARD:0018355,GARD:0022522,GARD:0017189,,Rare hematologic disease +GARD:0018356,GARD:0022522,GARD:0017189,,Rare hematologic disease +GARD:0018356,GARD:0022531,GARD:0017189,,Rare genetic disease +GARD:0018357,GARD:0022526,GARD:0016582,,Rare odontologic disease +GARD:0018357,GARD:0022531,GARD:0016582,,Rare genetic disease +GARD:0018358,GARD:0022511,GARD:0017203,,Rare bone disease +GARD:0018358,GARD:0022528,GARD:0017203,,Rare otorhinolaryngologic disease +GARD:0018358,GARD:0022520,GARD:0017203,,Rare ophthalmic disorder +GARD:0018358,GARD:0022531,GARD:0017203,,Rare genetic disease +GARD:0018358,GARD:0022507,GARD:0017203,,Rare maxillo-facial surgical disease +GARD:0018358,GARD:0022513,GARD:0017203,,Rare developmental defect during embryogenesis +GARD:0018359,GARD:0022513,GARD:0017203,,Rare developmental defect during embryogenesis +GARD:0018359,GARD:0022520,GARD:0017203,,Rare ophthalmic disorder +GARD:0018359,GARD:0022531,GARD:0017203,,Rare genetic disease +GARD:0018359,GARD:0022507,GARD:0017203,,Rare maxillo-facial surgical disease +GARD:0018359,GARD:0022528,GARD:0017203,,Rare otorhinolaryngologic disease +GARD:0018359,GARD:0022511,GARD:0017203,,Rare bone disease +GARD:0018360,GARD:0022529,GARD:0017211,,Rare infertility +GARD:0018360,GARD:0022514,GARD:0017211,,Rare gynecologic or obstetric disease +GARD:0018360,GARD:0022532,GARD:0017211,,Rare urogenital disease +GARD:0018360,GARD:0022536,GARD:0017211,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018360,GARD:0022513,GARD:0017211,,Rare developmental defect during embryogenesis +GARD:0018360,GARD:0022531,GARD:0017211,,Rare genetic disease +GARD:0018360,GARD:0022521,GARD:0017211,,Rare endocrine disease +GARD:0018361,GARD:0022529,GARD:0017211,,Rare infertility +GARD:0018361,GARD:0022514,GARD:0017211,,Rare gynecologic or obstetric disease +GARD:0018361,GARD:0022521,GARD:0017211,,Rare endocrine disease +GARD:0018361,GARD:0022513,GARD:0017211,,Rare developmental defect during embryogenesis +GARD:0018361,GARD:0022536,GARD:0017211,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018361,GARD:0022531,GARD:0017211,,Rare genetic disease +GARD:0018361,GARD:0022532,GARD:0017211,,Rare urogenital disease +GARD:0018362,GARD:0022524,GARD:0017217,,Rare neurologic disease +GARD:0018362,GARD:0022536,GARD:0017217,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018362,GARD:0022523,GARD:0017217,,Rare immune disease +GARD:0018362,GARD:0022535,GARD:0017217,,Rare neoplastic disease +GARD:0018362,GARD:0022531,GARD:0017217,,Rare genetic disease +GARD:0018363,GARD:0022524,GARD:0017217,,Rare neurologic disease +GARD:0018363,GARD:0022535,GARD:0017217,,Rare neoplastic disease +GARD:0018363,GARD:0022531,GARD:0017217,,Rare genetic disease +GARD:0018363,GARD:0022536,GARD:0017217,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018363,GARD:0022523,GARD:0017217,,Rare immune disease +GARD:0018364,GARD:0022536,GARD:0017217,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018364,GARD:0022523,GARD:0017217,,Rare immune disease +GARD:0018364,GARD:0022531,GARD:0017217,,Rare genetic disease +GARD:0018364,GARD:0022524,GARD:0017217,,Rare neurologic disease +GARD:0018364,GARD:0022535,GARD:0017217,,Rare neoplastic disease +GARD:0018365,GARD:0022535,GARD:0017224,,Rare neoplastic disease +GARD:0018365,GARD:0022514,GARD:0017224,,Rare gynecologic or obstetric disease +GARD:0018366,GARD:0022535,GARD:0017224,,Rare neoplastic disease +GARD:0018366,GARD:0022514,GARD:0017224,,Rare gynecologic or obstetric disease +GARD:0018367,GARD:0022514,GARD:0017224,,Rare gynecologic or obstetric disease +GARD:0018367,GARD:0022535,GARD:0017224,,Rare neoplastic disease +GARD:0018368,GARD:0022514,GARD:0017224,,Rare gynecologic or obstetric disease +GARD:0018368,GARD:0022535,GARD:0017224,,Rare neoplastic disease +GARD:0018369,GARD:0022508,GARD:0017228,,Rare inborn errors of metabolism +GARD:0018369,GARD:0022524,GARD:0017228,,Rare neurologic disease +GARD:0018369,GARD:0022531,GARD:0017228,,Rare genetic disease +GARD:0018370,GARD:0022508,GARD:0017228,,Rare inborn errors of metabolism +GARD:0018370,GARD:0022524,GARD:0017228,,Rare neurologic disease +GARD:0018370,GARD:0022531,GARD:0017228,,Rare genetic disease +GARD:0018371,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0018371,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0018371,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0018371,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0018372,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0018372,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0018372,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0018372,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0018373,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0018373,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0018373,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0018373,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0018374,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0018374,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0018374,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0018374,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0018375,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0018375,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0018375,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0018375,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0018376,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0018376,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0018376,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0018376,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0018377,GARD:0022524,GARD:0017238,,Rare neurologic disease +GARD:0018377,GARD:0022508,GARD:0017238,,Rare inborn errors of metabolism +GARD:0018377,GARD:0022531,GARD:0017238,,Rare genetic disease +GARD:0018377,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0018377,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0018377,GARD:0022520,GARD:0017238,,Rare ophthalmic disorder +GARD:0018378,GARD:0022508,GARD:0017239,,Rare inborn errors of metabolism +GARD:0018378,GARD:0022520,GARD:0017239,,Rare ophthalmic disorder +GARD:0018378,GARD:0022524,GARD:0017239,,Rare neurologic disease +GARD:0018378,GARD:0022512,GARD:0017239,,Rare renal disease +GARD:0018378,GARD:0022536,GARD:0017239,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018378,GARD:0022531,GARD:0017239,,Rare genetic disease +GARD:0018379,GARD:0022536,GARD:0017239,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018379,GARD:0022508,GARD:0017239,,Rare inborn errors of metabolism +GARD:0018379,GARD:0022531,GARD:0017239,,Rare genetic disease +GARD:0018379,GARD:0022524,GARD:0017239,,Rare neurologic disease +GARD:0018379,GARD:0022512,GARD:0017239,,Rare renal disease +GARD:0018379,GARD:0022520,GARD:0017239,,Rare ophthalmic disorder +GARD:0018380,GARD:0022531,GARD:0017240,,Rare genetic disease +GARD:0018380,GARD:0022522,GARD:0017240,,Rare hematologic disease +GARD:0018381,GARD:0022522,GARD:0017240,,Rare hematologic disease +GARD:0018381,GARD:0022531,GARD:0017240,,Rare genetic disease +GARD:0018382,GARD:0022524,GARD:0017253,,Rare neurologic disease +GARD:0018382,GARD:0022513,GARD:0017253,,Rare developmental defect during embryogenesis +GARD:0018382,GARD:0022531,GARD:0017253,,Rare genetic disease +GARD:0018383,GARD:0022531,GARD:0017255,,Rare genetic disease +GARD:0018383,GARD:0022520,GARD:0017255,,Rare ophthalmic disorder +GARD:0018384,GARD:0022524,GARD:0017257,,Rare neurologic disease +GARD:0018384,GARD:0022509,GARD:0017257,,Rare infectious disease +GARD:0018385,GARD:0022524,GARD:0017260,,Rare neurologic disease +GARD:0018385,GARD:0022535,GARD:0017260,,Rare neoplastic disease +GARD:0018386,GARD:0022506,GARD:0017261,,Rare hepatic disease +GARD:0018386,GARD:0022508,GARD:0017261,,Rare inborn errors of metabolism +GARD:0018386,GARD:0022531,GARD:0017261,,Rare genetic disease +GARD:0018387,GARD:0022531,GARD:0017261,,Rare genetic disease +GARD:0018387,GARD:0022508,GARD:0017261,,Rare inborn errors of metabolism +GARD:0018387,GARD:0022506,GARD:0017261,,Rare hepatic disease +GARD:0018388,GARD:0022531,GARD:0017264,,Rare genetic disease +GARD:0018388,GARD:0022508,GARD:0017264,,Rare inborn errors of metabolism +GARD:0018389,GARD:0022514,GARD:0012924,,Rare gynecologic or obstetric disease +GARD:0018390,GARD:0022514,GARD:0012924,,Rare gynecologic or obstetric disease +GARD:0018391,GARD:0022514,GARD:0012924,,Rare gynecologic or obstetric disease +GARD:0018392,GARD:0022514,GARD:0012924,,Rare gynecologic or obstetric disease +GARD:0018393,GARD:0022514,GARD:0012924,,Rare gynecologic or obstetric disease +GARD:0018394,GARD:0022531,GARD:0011914,,Rare genetic disease +GARD:0018394,GARD:0022536,GARD:0011914,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018394,GARD:0022517,GARD:0011914,,Rare respiratory disease +GARD:0018395,GARD:0022524,GARD:0007392,,Rare neurologic disease +GARD:0018395,GARD:0022531,GARD:0007392,,Rare genetic disease +GARD:0018396,GARD:0022531,GARD:0017273,,Rare genetic disease +GARD:0018396,GARD:0022524,GARD:0017273,,Rare neurologic disease +GARD:0018397,GARD:0022531,GARD:0017273,,Rare genetic disease +GARD:0018397,GARD:0022524,GARD:0017273,,Rare neurologic disease +GARD:0018398,GARD:0022531,GARD:0017273,,Rare genetic disease +GARD:0018398,GARD:0022524,GARD:0017273,,Rare neurologic disease +GARD:0018399,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018399,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018400,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018400,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018401,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018401,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018402,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018402,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018403,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018403,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018404,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018404,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018405,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018405,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018406,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018406,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018407,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018407,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018408,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018408,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018409,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018409,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018410,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018410,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018411,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018411,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018412,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018412,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018413,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018413,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018414,GARD:0022531,GARD:0017277,,Rare genetic disease +GARD:0018414,GARD:0022529,GARD:0017277,,Rare infertility +GARD:0018415,GARD:0022511,GARD:0017319,,Rare bone disease +GARD:0018415,GARD:0022531,GARD:0017319,,Rare genetic disease +GARD:0018415,GARD:0022521,GARD:0017319,,Rare endocrine disease +GARD:0018415,GARD:0022513,GARD:0017319,,Rare developmental defect during embryogenesis +GARD:0018416,GARD:0022531,GARD:0017320,,Rare genetic disease +GARD:0018416,GARD:0022521,GARD:0017320,,Rare endocrine disease +GARD:0018416,GARD:0022513,GARD:0017320,,Rare developmental defect during embryogenesis +GARD:0018416,GARD:0022511,GARD:0017320,,Rare bone disease +GARD:0018416,GARD:0022512,GARD:0017320,,Rare renal disease +GARD:0018417,GARD:0022511,GARD:0017320,,Rare bone disease +GARD:0018417,GARD:0022521,GARD:0017320,,Rare endocrine disease +GARD:0018417,GARD:0022512,GARD:0017320,,Rare renal disease +GARD:0018417,GARD:0022531,GARD:0017320,,Rare genetic disease +GARD:0018417,GARD:0022513,GARD:0017320,,Rare developmental defect during embryogenesis +GARD:0018418,GARD:0022512,GARD:0017323,,Rare renal disease +GARD:0018418,GARD:0022531,GARD:0017323,,Rare genetic disease +GARD:0018418,GARD:0022536,GARD:0017323,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018418,GARD:0022532,GARD:0017323,,Rare urogenital disease +GARD:0018418,GARD:0022513,GARD:0017323,,Rare developmental defect during embryogenesis +GARD:0018419,GARD:0022532,GARD:0017323,,Rare urogenital disease +GARD:0018419,GARD:0022531,GARD:0017323,,Rare genetic disease +GARD:0018419,GARD:0022513,GARD:0017323,,Rare developmental defect during embryogenesis +GARD:0018419,GARD:0022536,GARD:0017323,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018419,GARD:0022512,GARD:0017323,,Rare renal disease +GARD:0018420,GARD:0022513,GARD:0017323,,Rare developmental defect during embryogenesis +GARD:0018420,GARD:0022512,GARD:0017323,,Rare renal disease +GARD:0018420,GARD:0022536,GARD:0017323,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018420,GARD:0022531,GARD:0017323,,Rare genetic disease +GARD:0018420,GARD:0022532,GARD:0017323,,Rare urogenital disease +GARD:0018421,GARD:0022532,GARD:0017323,,Rare urogenital disease +GARD:0018421,GARD:0022512,GARD:0017323,,Rare renal disease +GARD:0018421,GARD:0022536,GARD:0017323,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018421,GARD:0022531,GARD:0017323,,Rare genetic disease +GARD:0018421,GARD:0022513,GARD:0017323,,Rare developmental defect during embryogenesis +GARD:0018422,GARD:0022513,GARD:0017323,,Rare developmental defect during embryogenesis +GARD:0018422,GARD:0022536,GARD:0017323,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018422,GARD:0022512,GARD:0017323,,Rare renal disease +GARD:0018422,GARD:0022532,GARD:0017323,,Rare urogenital disease +GARD:0018422,GARD:0022531,GARD:0017323,,Rare genetic disease +GARD:0018423,GARD:0022531,GARD:0017323,,Rare genetic disease +GARD:0018423,GARD:0022513,GARD:0017323,,Rare developmental defect during embryogenesis +GARD:0018423,GARD:0022532,GARD:0017323,,Rare urogenital disease +GARD:0018423,GARD:0022536,GARD:0017323,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018423,GARD:0022512,GARD:0017323,,Rare renal disease +GARD:0018424,GARD:0022512,GARD:0017323,,Rare renal disease +GARD:0018424,GARD:0022513,GARD:0017323,,Rare developmental defect during embryogenesis +GARD:0018424,GARD:0022536,GARD:0017323,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018424,GARD:0022532,GARD:0017323,,Rare urogenital disease +GARD:0018424,GARD:0022531,GARD:0017323,,Rare genetic disease +GARD:0018425,GARD:0022536,GARD:0017323,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018425,GARD:0022513,GARD:0017323,,Rare developmental defect during embryogenesis +GARD:0018425,GARD:0022532,GARD:0017323,,Rare urogenital disease +GARD:0018425,GARD:0022531,GARD:0017323,,Rare genetic disease +GARD:0018425,GARD:0022512,GARD:0017323,,Rare renal disease +GARD:0018426,GARD:0022520,GARD:0017329,,Rare ophthalmic disorder +GARD:0018426,GARD:0022510,GARD:0017329,,Rare skin disease +GARD:0018426,GARD:0022513,GARD:0017329,,Rare developmental defect during embryogenesis +GARD:0018426,GARD:0022531,GARD:0017329,,Rare genetic disease +GARD:0018427,GARD:0022531,GARD:0017329,,Rare genetic disease +GARD:0018427,GARD:0022513,GARD:0017329,,Rare developmental defect during embryogenesis +GARD:0018427,GARD:0022510,GARD:0017329,,Rare skin disease +GARD:0018427,GARD:0022520,GARD:0017329,,Rare ophthalmic disorder +GARD:0018428,GARD:0022524,GARD:0001118,,Rare neurologic disease +GARD:0018428,GARD:0022511,GARD:0001118,,Rare bone disease +GARD:0018428,GARD:0022513,GARD:0001118,,Rare developmental defect during embryogenesis +GARD:0018428,GARD:0022531,GARD:0001118,,Rare genetic disease +GARD:0018429,GARD:0022536,GARD:0017355,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018429,GARD:0022524,GARD:0017355,,Rare neurologic disease +GARD:0018429,GARD:0022523,GARD:0017355,,Rare immune disease +GARD:0018429,GARD:0021079,GARD:0017355,,Rare systemic or rheumatological disease of childhood +GARD:0018429,GARD:0022510,GARD:0017355,,Rare skin disease +GARD:0018429,GARD:0022525,GARD:0017355,,Rare systemic or rheumatologic disease +GARD:0018429,GARD:0022531,GARD:0017355,,Rare genetic disease +GARD:0018429,GARD:0022516,GARD:0017355,,Rare gastroenterologic disease +GARD:0018430,GARD:0022531,GARD:0017355,,Rare genetic disease +GARD:0018430,GARD:0022525,GARD:0017355,,Rare systemic or rheumatologic disease +GARD:0018430,GARD:0021079,GARD:0017355,,Rare systemic or rheumatological disease of childhood +GARD:0018430,GARD:0022524,GARD:0017355,,Rare neurologic disease +GARD:0018430,GARD:0022516,GARD:0017355,,Rare gastroenterologic disease +GARD:0018430,GARD:0022536,GARD:0017355,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018430,GARD:0022510,GARD:0017355,,Rare skin disease +GARD:0018430,GARD:0022523,GARD:0017355,,Rare immune disease +GARD:0018431,GARD:0022512,GARD:0017356,,Rare renal disease +GARD:0018431,GARD:0022513,GARD:0017356,,Rare developmental defect during embryogenesis +GARD:0018431,GARD:0022531,GARD:0017356,,Rare genetic disease +GARD:0018431,GARD:0022534,GARD:0017356,,Rare abdominal surgical disease +GARD:0018431,GARD:0022536,GARD:0017356,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018431,GARD:0022506,GARD:0017356,,Rare hepatic disease +GARD:0018432,GARD:0022534,GARD:0017356,,Rare abdominal surgical disease +GARD:0018432,GARD:0022513,GARD:0017356,,Rare developmental defect during embryogenesis +GARD:0018432,GARD:0022512,GARD:0017356,,Rare renal disease +GARD:0018432,GARD:0022536,GARD:0017356,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018432,GARD:0022531,GARD:0017356,,Rare genetic disease +GARD:0018432,GARD:0022506,GARD:0017356,,Rare hepatic disease +GARD:0018433,GARD:0022521,GARD:0017370,,Rare endocrine disease +GARD:0018433,GARD:0022531,GARD:0017370,,Rare genetic disease +GARD:0018434,GARD:0022531,GARD:0017374,,Rare genetic disease +GARD:0018434,GARD:0022536,GARD:0017374,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018434,GARD:0022512,GARD:0017374,,Rare renal disease +GARD:0018434,GARD:0022521,GARD:0017374,,Rare endocrine disease +GARD:0018435,GARD:0022512,GARD:0017374,,Rare renal disease +GARD:0018435,GARD:0022531,GARD:0017374,,Rare genetic disease +GARD:0018435,GARD:0022536,GARD:0017374,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018435,GARD:0022521,GARD:0017374,,Rare endocrine disease +GARD:0018436,GARD:0022513,GARD:0017379,,Rare developmental defect during embryogenesis +GARD:0018436,GARD:0022524,GARD:0017379,,Rare neurologic disease +GARD:0018436,GARD:0022507,GARD:0017379,,Rare maxillo-facial surgical disease +GARD:0018436,GARD:0022531,GARD:0017379,,Rare genetic disease +GARD:0018437,GARD:0022531,GARD:0017379,,Rare genetic disease +GARD:0018437,GARD:0022507,GARD:0017379,,Rare maxillo-facial surgical disease +GARD:0018437,GARD:0022513,GARD:0017379,,Rare developmental defect during embryogenesis +GARD:0018437,GARD:0022524,GARD:0017379,,Rare neurologic disease +GARD:0018438,GARD:0022531,GARD:0017381,,Rare genetic disease +GARD:0018438,GARD:0022513,GARD:0017381,,Rare developmental defect during embryogenesis +GARD:0018438,GARD:0022524,GARD:0017381,,Rare neurologic disease +GARD:0018438,GARD:0022521,GARD:0017381,,Rare endocrine disease +GARD:0018439,GARD:0022521,GARD:0017381,,Rare endocrine disease +GARD:0018439,GARD:0022531,GARD:0017381,,Rare genetic disease +GARD:0018439,GARD:0022524,GARD:0017381,,Rare neurologic disease +GARD:0018439,GARD:0022513,GARD:0017381,,Rare developmental defect during embryogenesis +GARD:0018440,GARD:0022531,GARD:0017382,,Rare genetic disease +GARD:0018440,GARD:0022524,GARD:0017382,,Rare neurologic disease +GARD:0018441,GARD:0022524,GARD:0017412,,Rare neurologic disease +GARD:0018441,GARD:0022520,GARD:0017412,,Rare ophthalmic disorder +GARD:0018441,GARD:0022531,GARD:0017412,,Rare genetic disease +GARD:0018442,GARD:0022520,GARD:0017412,,Rare ophthalmic disorder +GARD:0018442,GARD:0022531,GARD:0017412,,Rare genetic disease +GARD:0018442,GARD:0022524,GARD:0017412,,Rare neurologic disease +GARD:0018443,GARD:0022524,GARD:0017421,,Rare neurologic disease +GARD:0018443,GARD:0022531,GARD:0017421,,Rare genetic disease +GARD:0018444,GARD:0022524,GARD:0017421,,Rare neurologic disease +GARD:0018444,GARD:0022531,GARD:0017421,,Rare genetic disease +GARD:0018445,GARD:0022512,GARD:0017446,,Rare renal disease +GARD:0018445,GARD:0022536,GARD:0017446,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018445,GARD:0022535,GARD:0017446,,Rare neoplastic disease +GARD:0018446,GARD:0022510,GARD:0013824,,Rare skin disease +GARD:0018446,GARD:0021079,GARD:0013824,,Rare systemic or rheumatological disease of childhood +GARD:0018446,GARD:0022521,GARD:0013824,,Rare endocrine disease +GARD:0018446,GARD:0022531,GARD:0013824,,Rare genetic disease +GARD:0018446,GARD:0022525,GARD:0013824,,Rare systemic or rheumatologic disease +GARD:0018447,GARD:0021079,GARD:0013824,,Rare systemic or rheumatological disease of childhood +GARD:0018447,GARD:0022531,GARD:0013824,,Rare genetic disease +GARD:0018447,GARD:0022521,GARD:0013824,,Rare endocrine disease +GARD:0018447,GARD:0022510,GARD:0013824,,Rare skin disease +GARD:0018447,GARD:0022525,GARD:0013824,,Rare systemic or rheumatologic disease +GARD:0018448,GARD:0022521,GARD:0013824,,Rare endocrine disease +GARD:0018448,GARD:0021079,GARD:0013824,,Rare systemic or rheumatological disease of childhood +GARD:0018448,GARD:0022525,GARD:0013824,,Rare systemic or rheumatologic disease +GARD:0018448,GARD:0022510,GARD:0013824,,Rare skin disease +GARD:0018448,GARD:0022531,GARD:0013824,,Rare genetic disease +GARD:0018449,GARD:0022525,GARD:0013824,,Rare systemic or rheumatologic disease +GARD:0018449,GARD:0021079,GARD:0013824,,Rare systemic or rheumatological disease of childhood +GARD:0018449,GARD:0022531,GARD:0013824,,Rare genetic disease +GARD:0018449,GARD:0022510,GARD:0013824,,Rare skin disease +GARD:0018449,GARD:0022521,GARD:0013824,,Rare endocrine disease +GARD:0018450,GARD:0022513,GARD:0017503,,Rare developmental defect during embryogenesis +GARD:0018450,GARD:0022520,GARD:0017503,,Rare ophthalmic disorder +GARD:0018450,GARD:0022531,GARD:0017503,,Rare genetic disease +GARD:0018450,GARD:0022528,GARD:0017503,,Rare otorhinolaryngologic disease +GARD:0018450,GARD:0022508,GARD:0017503,,Rare inborn errors of metabolism +GARD:0018450,GARD:0022524,GARD:0017503,,Rare neurologic disease +GARD:0018451,GARD:0022508,GARD:0017539,,Rare inborn errors of metabolism +GARD:0018451,GARD:0022513,GARD:0017539,,Rare developmental defect during embryogenesis +GARD:0018451,GARD:0022520,GARD:0017539,,Rare ophthalmic disorder +GARD:0018451,GARD:0022524,GARD:0017539,,Rare neurologic disease +GARD:0018451,GARD:0022531,GARD:0017539,,Rare genetic disease +GARD:0018452,GARD:0022520,GARD:0017539,,Rare ophthalmic disorder +GARD:0018452,GARD:0022508,GARD:0017539,,Rare inborn errors of metabolism +GARD:0018452,GARD:0022531,GARD:0017539,,Rare genetic disease +GARD:0018452,GARD:0022524,GARD:0017539,,Rare neurologic disease +GARD:0018452,GARD:0022513,GARD:0017539,,Rare developmental defect during embryogenesis +GARD:0018453,GARD:0022520,GARD:0017539,,Rare ophthalmic disorder +GARD:0018453,GARD:0022508,GARD:0017539,,Rare inborn errors of metabolism +GARD:0018453,GARD:0022524,GARD:0017539,,Rare neurologic disease +GARD:0018453,GARD:0022513,GARD:0017539,,Rare developmental defect during embryogenesis +GARD:0018453,GARD:0022531,GARD:0017539,,Rare genetic disease +GARD:0018454,GARD:0022508,GARD:0017539,,Rare inborn errors of metabolism +GARD:0018454,GARD:0022520,GARD:0017539,,Rare ophthalmic disorder +GARD:0018454,GARD:0022513,GARD:0017539,,Rare developmental defect during embryogenesis +GARD:0018454,GARD:0022524,GARD:0017539,,Rare neurologic disease +GARD:0018454,GARD:0022531,GARD:0017539,,Rare genetic disease +GARD:0018455,GARD:0022524,GARD:0017605,,Rare neurologic disease +GARD:0018455,GARD:0022508,GARD:0017605,,Rare inborn errors of metabolism +GARD:0018455,GARD:0022531,GARD:0017605,,Rare genetic disease +GARD:0018456,GARD:0022508,GARD:0017607,,Rare inborn errors of metabolism +GARD:0018456,GARD:0022531,GARD:0017607,,Rare genetic disease +GARD:0018456,GARD:0022524,GARD:0017607,,Rare neurologic disease +GARD:0018457,GARD:0022524,GARD:0017609,,Rare neurologic disease +GARD:0018457,GARD:0022531,GARD:0017609,,Rare genetic disease +GARD:0018457,GARD:0022513,GARD:0017609,,Rare developmental defect during embryogenesis +GARD:0018458,GARD:0022524,GARD:0017609,,Rare neurologic disease +GARD:0018458,GARD:0022513,GARD:0017609,,Rare developmental defect during embryogenesis +GARD:0018458,GARD:0022531,GARD:0017609,,Rare genetic disease +GARD:0018459,GARD:0022531,GARD:0017620,,Rare genetic disease +GARD:0018459,GARD:0022513,GARD:0017620,,Rare developmental defect during embryogenesis +GARD:0018459,GARD:0022524,GARD:0017620,,Rare neurologic disease +GARD:0018459,GARD:0022521,GARD:0017620,,Rare endocrine disease +GARD:0018460,GARD:0022513,GARD:0017620,,Rare developmental defect during embryogenesis +GARD:0018460,GARD:0022521,GARD:0017620,,Rare endocrine disease +GARD:0018460,GARD:0022524,GARD:0017620,,Rare neurologic disease +GARD:0018460,GARD:0022531,GARD:0017620,,Rare genetic disease +GARD:0018461,GARD:0022524,GARD:0017621,,Rare neurologic disease +GARD:0018461,GARD:0022531,GARD:0017621,,Rare genetic disease +GARD:0018462,GARD:0022531,GARD:0017621,,Rare genetic disease +GARD:0018462,GARD:0022524,GARD:0017621,,Rare neurologic disease +GARD:0018463,GARD:0022531,GARD:0017628,,Rare genetic disease +GARD:0018463,GARD:0022535,GARD:0017628,,Rare neoplastic disease +GARD:0018463,GARD:0022520,GARD:0017628,,Rare ophthalmic disorder +GARD:0018463,GARD:0022513,GARD:0017628,,Rare developmental defect during embryogenesis +GARD:0018463,GARD:0022524,GARD:0017628,,Rare neurologic disease +GARD:0018464,GARD:0022513,GARD:0017628,,Rare developmental defect during embryogenesis +GARD:0018464,GARD:0022535,GARD:0017628,,Rare neoplastic disease +GARD:0018464,GARD:0022531,GARD:0017628,,Rare genetic disease +GARD:0018464,GARD:0022520,GARD:0017628,,Rare ophthalmic disorder +GARD:0018464,GARD:0022524,GARD:0017628,,Rare neurologic disease +GARD:0018465,GARD:0022520,GARD:0017628,,Rare ophthalmic disorder +GARD:0018465,GARD:0022524,GARD:0017628,,Rare neurologic disease +GARD:0018465,GARD:0022531,GARD:0017628,,Rare genetic disease +GARD:0018465,GARD:0022535,GARD:0017628,,Rare neoplastic disease +GARD:0018465,GARD:0022513,GARD:0017628,,Rare developmental defect during embryogenesis +GARD:0018466,GARD:0022508,GARD:0017629,,Rare inborn errors of metabolism +GARD:0018466,GARD:0022531,GARD:0017629,,Rare genetic disease +GARD:0018467,GARD:0022517,GARD:0017637,,Rare respiratory disease +GARD:0018467,GARD:0022524,GARD:0017637,,Rare neurologic disease +GARD:0018467,GARD:0022531,GARD:0017637,,Rare genetic disease +GARD:0018467,GARD:0022511,GARD:0017637,,Rare bone disease +GARD:0018467,GARD:0022520,GARD:0017637,,Rare ophthalmic disorder +GARD:0018467,GARD:0022513,GARD:0017637,,Rare developmental defect during embryogenesis +GARD:0018468,GARD:0022531,GARD:0017641,,Rare genetic disease +GARD:0018468,GARD:0022523,GARD:0017641,,Rare immune disease +GARD:0018468,GARD:0022536,GARD:0017641,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018469,GARD:0022523,GARD:0017641,,Rare immune disease +GARD:0018469,GARD:0022536,GARD:0017641,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018469,GARD:0022531,GARD:0017641,,Rare genetic disease +GARD:0018470,GARD:0022531,GARD:0017670,,Rare genetic disease +GARD:0018470,GARD:0022527,GARD:0017670,,Rare circulatory system disease +GARD:0018470,GARD:0022519,GARD:0017670,,Rare surgical cardiac disease +GARD:0018470,GARD:0022513,GARD:0017670,,Rare developmental defect during embryogenesis +GARD:0018470,GARD:0022518,GARD:0017670,,Rare surgical thoracic disease +GARD:0018471,GARD:0022513,GARD:0017670,,Rare developmental defect during embryogenesis +GARD:0018471,GARD:0022518,GARD:0017670,,Rare surgical thoracic disease +GARD:0018471,GARD:0022519,GARD:0017670,,Rare surgical cardiac disease +GARD:0018471,GARD:0022527,GARD:0017670,,Rare circulatory system disease +GARD:0018471,GARD:0022531,GARD:0017670,,Rare genetic disease +GARD:0018472,GARD:0022535,GARD:0009281,,Rare neoplastic disease +GARD:0018472,GARD:0022531,GARD:0003460,,Rare genetic disease +GARD:0018472,GARD:0022531,GARD:0009281,,Rare genetic disease +GARD:0018472,GARD:0022535,GARD:0003460,,Rare neoplastic disease +GARD:0018472,GARD:0022510,GARD:0003460,,Rare skin disease +GARD:0018472,GARD:0022510,GARD:0009281,,Rare skin disease +GARD:0018473,GARD:0022531,GARD:0009281,,Rare genetic disease +GARD:0018473,GARD:0022535,GARD:0009281,,Rare neoplastic disease +GARD:0018473,GARD:0022510,GARD:0009281,,Rare skin disease +GARD:0018474,GARD:0022524,GARD:0017684,,Rare neurologic disease +GARD:0018474,GARD:0022531,GARD:0017684,,Rare genetic disease +GARD:0018475,GARD:0022531,GARD:0017684,,Rare genetic disease +GARD:0018475,GARD:0022524,GARD:0017684,,Rare neurologic disease +GARD:0018476,GARD:0022531,GARD:0017684,,Rare genetic disease +GARD:0018476,GARD:0022524,GARD:0017684,,Rare neurologic disease +GARD:0018477,GARD:0022524,GARD:0017684,,Rare neurologic disease +GARD:0018477,GARD:0022531,GARD:0017684,,Rare genetic disease +GARD:0018478,GARD:0022524,GARD:0017684,,Rare neurologic disease +GARD:0018478,GARD:0022531,GARD:0017684,,Rare genetic disease +GARD:0018479,GARD:0022531,GARD:0017684,,Rare genetic disease +GARD:0018479,GARD:0022524,GARD:0017684,,Rare neurologic disease +GARD:0018480,GARD:0022524,GARD:0017684,,Rare neurologic disease +GARD:0018480,GARD:0022531,GARD:0017684,,Rare genetic disease +GARD:0018481,GARD:0022531,GARD:0016603,,Rare genetic disease +GARD:0018481,GARD:0022520,GARD:0016603,,Rare ophthalmic disorder +GARD:0018481,GARD:0022513,GARD:0016603,,Rare developmental defect during embryogenesis +GARD:0018481,GARD:0022524,GARD:0016603,,Rare neurologic disease +GARD:0018482,GARD:0022531,GARD:0016603,,Rare genetic disease +GARD:0018482,GARD:0022513,GARD:0016603,,Rare developmental defect during embryogenesis +GARD:0018482,GARD:0022524,GARD:0016603,,Rare neurologic disease +GARD:0018482,GARD:0022520,GARD:0016603,,Rare ophthalmic disorder +GARD:0018483,GARD:0022514,GARD:0017728,,Rare gynecologic or obstetric disease +GARD:0018483,GARD:0022521,GARD:0017728,,Rare endocrine disease +GARD:0018483,GARD:0022531,GARD:0017728,,Rare genetic disease +GARD:0018484,GARD:0022521,GARD:0017728,,Rare endocrine disease +GARD:0018484,GARD:0022514,GARD:0017728,,Rare gynecologic or obstetric disease +GARD:0018484,GARD:0022531,GARD:0017728,,Rare genetic disease +GARD:0018485,GARD:0022516,GARD:0017772,,Rare gastroenterologic disease +GARD:0018485,GARD:0022531,GARD:0017772,,Rare genetic disease +GARD:0018485,GARD:0022536,GARD:0017772,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018485,GARD:0022535,GARD:0017772,,Rare neoplastic disease +GARD:0018486,GARD:0022536,GARD:0017772,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018486,GARD:0022516,GARD:0017772,,Rare gastroenterologic disease +GARD:0018486,GARD:0022531,GARD:0017772,,Rare genetic disease +GARD:0018486,GARD:0022535,GARD:0017772,,Rare neoplastic disease +GARD:0018487,GARD:0022531,GARD:0017781,,Rare genetic disease +GARD:0018487,GARD:0022510,GARD:0017781,,Rare skin disease +GARD:0018488,GARD:0022510,GARD:0017781,,Rare skin disease +GARD:0018488,GARD:0022531,GARD:0017781,,Rare genetic disease +GARD:0018489,GARD:0022527,GARD:0017828,,Rare circulatory system disease +GARD:0018489,GARD:0022531,GARD:0017828,,Rare genetic disease +GARD:0018489,GARD:0022513,GARD:0017828,,Rare developmental defect during embryogenesis +GARD:0018489,GARD:0022519,GARD:0017828,,Rare surgical cardiac disease +GARD:0018490,GARD:0022527,GARD:0017828,,Rare circulatory system disease +GARD:0018490,GARD:0022531,GARD:0017828,,Rare genetic disease +GARD:0018490,GARD:0022519,GARD:0017828,,Rare surgical cardiac disease +GARD:0018490,GARD:0022513,GARD:0017828,,Rare developmental defect during embryogenesis +GARD:0018491,GARD:0022522,GARD:0017835,,Rare hematologic disease +GARD:0018491,GARD:0022531,GARD:0017835,,Rare genetic disease +GARD:0018492,GARD:0022531,GARD:0017835,,Rare genetic disease +GARD:0018492,GARD:0022522,GARD:0017835,,Rare hematologic disease +GARD:0018493,GARD:0022510,GARD:0017874,,Rare skin disease +GARD:0018493,GARD:0021079,GARD:0017874,,Rare systemic or rheumatological disease of childhood +GARD:0018493,GARD:0022531,GARD:0017874,,Rare genetic disease +GARD:0018493,GARD:0022525,GARD:0017874,,Rare systemic or rheumatologic disease +GARD:0018493,GARD:0022524,GARD:0017874,,Rare neurologic disease +GARD:0018494,GARD:0021079,GARD:0017874,,Rare systemic or rheumatological disease of childhood +GARD:0018494,GARD:0022531,GARD:0017874,,Rare genetic disease +GARD:0018494,GARD:0022524,GARD:0017874,,Rare neurologic disease +GARD:0018494,GARD:0022525,GARD:0017874,,Rare systemic or rheumatologic disease +GARD:0018494,GARD:0022510,GARD:0017874,,Rare skin disease +GARD:0018495,GARD:0022531,GARD:0017882,,Rare genetic disease +GARD:0018495,GARD:0022513,GARD:0017882,,Rare developmental defect during embryogenesis +GARD:0018495,GARD:0022524,GARD:0017882,,Rare neurologic disease +GARD:0018496,GARD:0022529,GARD:0017887,,Rare infertility +GARD:0018496,GARD:0022531,GARD:0017887,,Rare genetic disease +GARD:0018497,GARD:0022529,GARD:0017887,,Rare infertility +GARD:0018497,GARD:0022531,GARD:0017887,,Rare genetic disease +GARD:0018498,GARD:0022529,GARD:0017887,,Rare infertility +GARD:0018498,GARD:0022531,GARD:0017887,,Rare genetic disease +GARD:0018499,GARD:0022529,GARD:0017887,,Rare infertility +GARD:0018499,GARD:0022531,GARD:0017887,,Rare genetic disease +GARD:0018500,GARD:0022531,GARD:0017887,,Rare genetic disease +GARD:0018500,GARD:0022529,GARD:0017887,,Rare infertility +GARD:0018501,GARD:0022520,GARD:0017893,,Rare ophthalmic disorder +GARD:0018501,GARD:0022524,GARD:0017893,,Rare neurologic disease +GARD:0018501,GARD:0022531,GARD:0017893,,Rare genetic disease +GARD:0018502,GARD:0022508,GARD:0017897,,Rare inborn errors of metabolism +GARD:0018502,GARD:0022524,GARD:0017897,,Rare neurologic disease +GARD:0018502,GARD:0022531,GARD:0017897,,Rare genetic disease +GARD:0018503,GARD:0022513,GARD:0016574,,Rare developmental defect during embryogenesis +GARD:0018503,GARD:0022529,GARD:0016574,,Rare infertility +GARD:0018503,GARD:0022531,GARD:0016574,,Rare genetic disease +GARD:0018504,GARD:0022513,GARD:0016574,,Rare developmental defect during embryogenesis +GARD:0018504,GARD:0022529,GARD:0016574,,Rare infertility +GARD:0018504,GARD:0022531,GARD:0016574,,Rare genetic disease +GARD:0018505,GARD:0022535,GARD:0003765,,Rare neoplastic disease +GARD:0018505,GARD:0022536,GARD:0003765,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018505,GARD:0022522,GARD:0003765,,Rare hematologic disease +GARD:0018506,GARD:0022522,GARD:0003765,,Rare hematologic disease +GARD:0018506,GARD:0022536,GARD:0003765,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018506,GARD:0022535,GARD:0003765,,Rare neoplastic disease +GARD:0018507,GARD:0022531,GARD:0017949,,Rare genetic disease +GARD:0018507,GARD:0022510,GARD:0017949,,Rare skin disease +GARD:0018508,GARD:0022536,GARD:0017961,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018508,GARD:0022512,GARD:0017961,,Rare renal disease +GARD:0018508,GARD:0022519,GARD:0017961,,Rare surgical cardiac disease +GARD:0018508,GARD:0022531,GARD:0017961,,Rare genetic disease +GARD:0018508,GARD:0022528,GARD:0017961,,Rare otorhinolaryngologic disease +GARD:0018508,GARD:0022513,GARD:0017961,,Rare developmental defect during embryogenesis +GARD:0018509,GARD:0022513,GARD:0017961,,Rare developmental defect during embryogenesis +GARD:0018509,GARD:0022512,GARD:0017961,,Rare renal disease +GARD:0018509,GARD:0022531,GARD:0017961,,Rare genetic disease +GARD:0018509,GARD:0022536,GARD:0017961,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018509,GARD:0022519,GARD:0017961,,Rare surgical cardiac disease +GARD:0018509,GARD:0022528,GARD:0017961,,Rare otorhinolaryngologic disease +GARD:0018510,GARD:0022513,GARD:0017961,,Rare developmental defect during embryogenesis +GARD:0018510,GARD:0022519,GARD:0017961,,Rare surgical cardiac disease +GARD:0018510,GARD:0022512,GARD:0017961,,Rare renal disease +GARD:0018510,GARD:0022528,GARD:0017961,,Rare otorhinolaryngologic disease +GARD:0018510,GARD:0022531,GARD:0017961,,Rare genetic disease +GARD:0018510,GARD:0022536,GARD:0017961,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018511,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018511,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018512,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018512,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018513,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018513,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018514,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018514,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018515,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018515,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018516,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018516,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018517,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018517,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018518,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018518,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018519,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018519,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018520,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018520,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018521,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018521,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018522,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018522,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018523,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018523,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018524,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018524,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018525,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018525,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018526,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018526,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018527,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018527,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018528,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018528,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018529,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018529,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018530,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018530,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018531,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018531,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018532,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018532,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018533,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018533,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018534,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018534,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018535,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018535,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018536,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018536,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018537,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018537,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018538,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018538,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018539,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018539,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018540,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018540,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018541,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018541,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018542,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018542,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018543,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018543,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018544,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018544,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018545,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018545,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018546,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018546,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018547,GARD:0022531,GARD:0017965,,Rare genetic disease +GARD:0018547,GARD:0022524,GARD:0017965,,Rare neurologic disease +GARD:0018548,GARD:0022511,GARD:0016620,,Rare bone disease +GARD:0018548,GARD:0022513,GARD:0016620,,Rare developmental defect during embryogenesis +GARD:0018548,GARD:0022524,GARD:0016620,,Rare neurologic disease +GARD:0018548,GARD:0022531,GARD:0016620,,Rare genetic disease +GARD:0018549,GARD:0022524,GARD:0016620,,Rare neurologic disease +GARD:0018549,GARD:0022511,GARD:0016620,,Rare bone disease +GARD:0018549,GARD:0022531,GARD:0016620,,Rare genetic disease +GARD:0018549,GARD:0022513,GARD:0016620,,Rare developmental defect during embryogenesis +GARD:0018550,GARD:0022512,GARD:0017986,,Rare renal disease +GARD:0018550,GARD:0022522,GARD:0017986,,Rare hematologic disease +GARD:0018550,GARD:0022536,GARD:0017986,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018550,GARD:0022531,GARD:0017986,,Rare genetic disease +GARD:0018551,GARD:0022522,GARD:0017986,,Rare hematologic disease +GARD:0018551,GARD:0022531,GARD:0017986,,Rare genetic disease +GARD:0018551,GARD:0022512,GARD:0017986,,Rare renal disease +GARD:0018551,GARD:0022536,GARD:0017986,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018552,GARD:0022531,GARD:0017986,,Rare genetic disease +GARD:0018552,GARD:0022522,GARD:0017986,,Rare hematologic disease +GARD:0018552,GARD:0022512,GARD:0017986,,Rare renal disease +GARD:0018552,GARD:0022536,GARD:0017986,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018553,GARD:0022531,GARD:0017986,,Rare genetic disease +GARD:0018553,GARD:0022512,GARD:0017986,,Rare renal disease +GARD:0018553,GARD:0022536,GARD:0017986,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018553,GARD:0022522,GARD:0017986,,Rare hematologic disease +GARD:0018554,GARD:0022512,GARD:0017986,,Rare renal disease +GARD:0018554,GARD:0022531,GARD:0017986,,Rare genetic disease +GARD:0018554,GARD:0022536,GARD:0017986,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018554,GARD:0022522,GARD:0017986,,Rare hematologic disease +GARD:0018555,GARD:0022512,GARD:0017986,,Rare renal disease +GARD:0018555,GARD:0022522,GARD:0017986,,Rare hematologic disease +GARD:0018555,GARD:0022536,GARD:0017986,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018555,GARD:0022531,GARD:0017986,,Rare genetic disease +GARD:0018556,GARD:0022522,GARD:0017986,,Rare hematologic disease +GARD:0018556,GARD:0022512,GARD:0017986,,Rare renal disease +GARD:0018556,GARD:0022531,GARD:0017986,,Rare genetic disease +GARD:0018556,GARD:0022536,GARD:0017986,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018557,GARD:0022536,GARD:0017986,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018557,GARD:0022531,GARD:0017986,,Rare genetic disease +GARD:0018557,GARD:0022522,GARD:0017986,,Rare hematologic disease +GARD:0018557,GARD:0022512,GARD:0017986,,Rare renal disease +GARD:0018558,GARD:0022513,GARD:0016626,,Rare developmental defect during embryogenesis +GARD:0018558,GARD:0022531,GARD:0016626,,Rare genetic disease +GARD:0018558,GARD:0022511,GARD:0016626,,Rare bone disease +GARD:0018558,GARD:0022520,GARD:0016626,,Rare ophthalmic disorder +GARD:0018559,GARD:0022511,GARD:0016626,,Rare bone disease +GARD:0018559,GARD:0022513,GARD:0016626,,Rare developmental defect during embryogenesis +GARD:0018559,GARD:0022520,GARD:0016626,,Rare ophthalmic disorder +GARD:0018559,GARD:0022531,GARD:0016626,,Rare genetic disease +GARD:0018560,GARD:0022511,GARD:0018027,,Rare bone disease +GARD:0018560,GARD:0022524,GARD:0018027,,Rare neurologic disease +GARD:0018560,GARD:0022531,GARD:0018027,,Rare genetic disease +GARD:0018560,GARD:0022513,GARD:0018027,,Rare developmental defect during embryogenesis +GARD:0018561,GARD:0022511,GARD:0018027,,Rare bone disease +GARD:0018561,GARD:0022531,GARD:0018027,,Rare genetic disease +GARD:0018561,GARD:0022513,GARD:0018027,,Rare developmental defect during embryogenesis +GARD:0018561,GARD:0022524,GARD:0018027,,Rare neurologic disease +GARD:0018562,GARD:0022524,GARD:0018032,,Rare neurologic disease +GARD:0018562,GARD:0022531,GARD:0018032,,Rare genetic disease +GARD:0018562,GARD:0022513,GARD:0018032,,Rare developmental defect during embryogenesis +GARD:0018563,GARD:0022524,GARD:0018032,,Rare neurologic disease +GARD:0018563,GARD:0022531,GARD:0018032,,Rare genetic disease +GARD:0018563,GARD:0022513,GARD:0018032,,Rare developmental defect during embryogenesis +GARD:0018564,GARD:0022513,GARD:0016604,,Rare developmental defect during embryogenesis +GARD:0018564,GARD:0022531,GARD:0016604,,Rare genetic disease +GARD:0018565,GARD:0022513,GARD:0016604,,Rare developmental defect during embryogenesis +GARD:0018565,GARD:0022531,GARD:0016604,,Rare genetic disease +GARD:0018566,GARD:0022531,GARD:0016604,,Rare genetic disease +GARD:0018566,GARD:0022513,GARD:0016604,,Rare developmental defect during embryogenesis +GARD:0018567,GARD:0022531,GARD:0016604,,Rare genetic disease +GARD:0018567,GARD:0022513,GARD:0016604,,Rare developmental defect during embryogenesis +GARD:0018568,GARD:0022522,GARD:0016543,,Rare hematologic disease +GARD:0018568,GARD:0022525,GARD:0016543,,Rare systemic or rheumatologic disease +GARD:0018568,GARD:0022531,GARD:0016543,,Rare genetic disease +GARD:0018568,GARD:0022511,GARD:0016543,,Rare bone disease +GARD:0018569,GARD:0022522,GARD:0016543,,Rare hematologic disease +GARD:0018569,GARD:0022531,GARD:0016543,,Rare genetic disease +GARD:0018569,GARD:0022511,GARD:0016543,,Rare bone disease +GARD:0018569,GARD:0022525,GARD:0016543,,Rare systemic or rheumatologic disease +GARD:0018570,GARD:0022531,GARD:0016569,,Rare genetic disease +GARD:0018570,GARD:0022508,GARD:0016569,,Rare inborn errors of metabolism +GARD:0018571,GARD:0022531,GARD:0016569,,Rare genetic disease +GARD:0018571,GARD:0022508,GARD:0016569,,Rare inborn errors of metabolism +GARD:0018572,GARD:0022531,GARD:0016569,,Rare genetic disease +GARD:0018572,GARD:0022508,GARD:0016569,,Rare inborn errors of metabolism +GARD:0018573,GARD:0022508,GARD:0016569,,Rare inborn errors of metabolism +GARD:0018573,GARD:0022531,GARD:0016569,,Rare genetic disease +GARD:0018574,GARD:0022531,GARD:0016544,,Rare genetic disease +GARD:0018574,GARD:0022511,GARD:0016544,,Rare bone disease +GARD:0018574,GARD:0022525,GARD:0016544,,Rare systemic or rheumatologic disease +GARD:0018574,GARD:0022522,GARD:0016544,,Rare hematologic disease +GARD:0018575,GARD:0022531,GARD:0003460,,Rare genetic disease +GARD:0018575,GARD:0022510,GARD:0003460,,Rare skin disease +GARD:0018575,GARD:0022535,GARD:0003460,,Rare neoplastic disease +GARD:0018576,GARD:0022531,GARD:0003460,,Rare genetic disease +GARD:0018576,GARD:0022510,GARD:0003460,,Rare skin disease +GARD:0018576,GARD:0022535,GARD:0003460,,Rare neoplastic disease +GARD:0018577,GARD:0022510,GARD:0003460,,Rare skin disease +GARD:0018577,GARD:0022531,GARD:0003460,,Rare genetic disease +GARD:0018577,GARD:0022535,GARD:0003460,,Rare neoplastic disease +GARD:0018578,GARD:0022510,GARD:0003460,,Rare skin disease +GARD:0018578,GARD:0022531,GARD:0003460,,Rare genetic disease +GARD:0018578,GARD:0022535,GARD:0003460,,Rare neoplastic disease +GARD:0018579,GARD:0022510,GARD:0003460,,Rare skin disease +GARD:0018579,GARD:0022535,GARD:0003460,,Rare neoplastic disease +GARD:0018579,GARD:0022531,GARD:0003460,,Rare genetic disease +GARD:0018580,GARD:0022510,GARD:0003460,,Rare skin disease +GARD:0018580,GARD:0022535,GARD:0003460,,Rare neoplastic disease +GARD:0018580,GARD:0022531,GARD:0003460,,Rare genetic disease +GARD:0018581,GARD:0022510,GARD:0003460,,Rare skin disease +GARD:0018581,GARD:0022531,GARD:0003460,,Rare genetic disease +GARD:0018581,GARD:0022535,GARD:0003460,,Rare neoplastic disease +GARD:0018582,GARD:0022535,GARD:0003460,,Rare neoplastic disease +GARD:0018582,GARD:0022510,GARD:0003460,,Rare skin disease +GARD:0018582,GARD:0022531,GARD:0003460,,Rare genetic disease +GARD:0018583,GARD:0022512,GARD:0016587,,Rare renal disease +GARD:0018583,GARD:0022531,GARD:0016587,,Rare genetic disease +GARD:0018583,GARD:0022536,GARD:0016587,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018584,GARD:0022536,GARD:0016587,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018584,GARD:0022531,GARD:0016587,,Rare genetic disease +GARD:0018584,GARD:0022512,GARD:0016587,,Rare renal disease +GARD:0018585,GARD:0022531,GARD:0016592,,Rare genetic disease +GARD:0018585,GARD:0022534,GARD:0016592,,Rare abdominal surgical disease +GARD:0018585,GARD:0022516,GARD:0016592,,Rare gastroenterologic disease +GARD:0018585,GARD:0022513,GARD:0016592,,Rare developmental defect during embryogenesis +GARD:0018585,GARD:0022536,GARD:0016592,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018586,GARD:0022534,GARD:0016540,,Rare abdominal surgical disease +GARD:0018586,GARD:0022513,GARD:0016540,,Rare developmental defect during embryogenesis +GARD:0018587,GARD:0022513,GARD:0016540,,Rare developmental defect during embryogenesis +GARD:0018587,GARD:0022534,GARD:0016540,,Rare abdominal surgical disease +GARD:0018588,GARD:0022520,GARD:0016528,,Rare ophthalmic disorder +GARD:0018588,GARD:0022510,GARD:0016528,,Rare skin disease +GARD:0018588,GARD:0022531,GARD:0016528,,Rare genetic disease +GARD:0018589,GARD:0022520,GARD:0016528,,Rare ophthalmic disorder +GARD:0018589,GARD:0022531,GARD:0016528,,Rare genetic disease +GARD:0018589,GARD:0022510,GARD:0016528,,Rare skin disease +GARD:0018590,GARD:0022520,GARD:0016528,,Rare ophthalmic disorder +GARD:0018590,GARD:0022531,GARD:0016528,,Rare genetic disease +GARD:0018590,GARD:0022510,GARD:0016528,,Rare skin disease +GARD:0018591,GARD:0022510,GARD:0002048,,Rare skin disease +GARD:0018591,GARD:0022520,GARD:0002048,,Rare ophthalmic disorder +GARD:0018591,GARD:0022513,GARD:0002048,,Rare developmental defect during embryogenesis +GARD:0018591,GARD:0022526,GARD:0002048,,Rare odontologic disease +GARD:0018591,GARD:0022531,GARD:0002048,,Rare genetic disease +GARD:0018592,GARD:0022526,GARD:0002048,,Rare odontologic disease +GARD:0018592,GARD:0022520,GARD:0002048,,Rare ophthalmic disorder +GARD:0018592,GARD:0022531,GARD:0002048,,Rare genetic disease +GARD:0018592,GARD:0022510,GARD:0002048,,Rare skin disease +GARD:0018592,GARD:0022513,GARD:0002048,,Rare developmental defect during embryogenesis +GARD:0018593,GARD:0022513,GARD:0002048,,Rare developmental defect during embryogenesis +GARD:0018593,GARD:0022510,GARD:0002048,,Rare skin disease +GARD:0018593,GARD:0022531,GARD:0002048,,Rare genetic disease +GARD:0018593,GARD:0022520,GARD:0002048,,Rare ophthalmic disorder +GARD:0018593,GARD:0022526,GARD:0002048,,Rare odontologic disease +GARD:0018594,GARD:0022517,GARD:0007607,,Rare respiratory disease +GARD:0018594,GARD:0022520,GARD:0007607,,Rare ophthalmic disorder +GARD:0018594,GARD:0022512,GARD:0007607,,Rare renal disease +GARD:0018594,GARD:0022524,GARD:0007607,,Rare neurologic disease +GARD:0018594,GARD:0022536,GARD:0007607,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018594,GARD:0021079,GARD:0007607,,Rare systemic or rheumatological disease of childhood +GARD:0018594,GARD:0022521,GARD:0007607,,Rare endocrine disease +GARD:0018594,GARD:0022525,GARD:0007607,,Rare systemic or rheumatologic disease +GARD:0018594,GARD:0022515,GARD:0007607,,Rare cardiac disease +GARD:0018595,GARD:0022515,GARD:0007607,,Rare cardiac disease +GARD:0018595,GARD:0022512,GARD:0007607,,Rare renal disease +GARD:0018595,GARD:0022521,GARD:0007607,,Rare endocrine disease +GARD:0018595,GARD:0022520,GARD:0007607,,Rare ophthalmic disorder +GARD:0018595,GARD:0022536,GARD:0007607,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018595,GARD:0022524,GARD:0007607,,Rare neurologic disease +GARD:0018595,GARD:0022525,GARD:0007607,,Rare systemic or rheumatologic disease +GARD:0018595,GARD:0021079,GARD:0007607,,Rare systemic or rheumatological disease of childhood +GARD:0018595,GARD:0022517,GARD:0007607,,Rare respiratory disease +GARD:0018596,GARD:0022512,GARD:0007607,,Rare renal disease +GARD:0018596,GARD:0022525,GARD:0007607,,Rare systemic or rheumatologic disease +GARD:0018596,GARD:0022517,GARD:0007607,,Rare respiratory disease +GARD:0018596,GARD:0022524,GARD:0007607,,Rare neurologic disease +GARD:0018596,GARD:0021079,GARD:0007607,,Rare systemic or rheumatological disease of childhood +GARD:0018596,GARD:0022521,GARD:0007607,,Rare endocrine disease +GARD:0018596,GARD:0022536,GARD:0007607,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018596,GARD:0022515,GARD:0007607,,Rare cardiac disease +GARD:0018596,GARD:0022520,GARD:0007607,,Rare ophthalmic disorder +GARD:0018597,GARD:0022531,GARD:0010413,,Rare genetic disease +GARD:0018597,GARD:0022529,GARD:0010413,,Rare infertility +GARD:0018597,GARD:0022536,GARD:0010413,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018597,GARD:0022512,GARD:0010413,,Rare renal disease +GARD:0018598,GARD:0022536,GARD:0010413,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018598,GARD:0022512,GARD:0010413,,Rare renal disease +GARD:0018598,GARD:0022529,GARD:0010413,,Rare infertility +GARD:0018598,GARD:0022531,GARD:0010413,,Rare genetic disease +GARD:0018599,GARD:0022512,GARD:0010413,,Rare renal disease +GARD:0018599,GARD:0022531,GARD:0010413,,Rare genetic disease +GARD:0018599,GARD:0022529,GARD:0010413,,Rare infertility +GARD:0018599,GARD:0022536,GARD:0010413,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018600,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0018600,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0018600,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0018600,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0018601,GARD:0022521,GARD:0016533,,Rare endocrine disease +GARD:0018601,GARD:0022514,GARD:0016533,,Rare gynecologic or obstetric disease +GARD:0018601,GARD:0022531,GARD:0016533,,Rare genetic disease +GARD:0018601,GARD:0022529,GARD:0016533,,Rare infertility +GARD:0018602,GARD:0022531,GARD:0016629,,Rare genetic disease +GARD:0018602,GARD:0022521,GARD:0016629,,Rare endocrine disease +GARD:0018603,GARD:0022531,GARD:0016629,,Rare genetic disease +GARD:0018603,GARD:0022521,GARD:0016629,,Rare endocrine disease +GARD:0018604,GARD:0022531,GARD:0016610,,Rare genetic disease +GARD:0018604,GARD:0022524,GARD:0016610,,Rare neurologic disease +GARD:0018605,GARD:0022524,GARD:0016610,,Rare neurologic disease +GARD:0018605,GARD:0022531,GARD:0016610,,Rare genetic disease +GARD:0018606,GARD:0022531,GARD:0016610,,Rare genetic disease +GARD:0018606,GARD:0022524,GARD:0016610,,Rare neurologic disease +GARD:0018607,GARD:0022531,GARD:0016610,,Rare genetic disease +GARD:0018607,GARD:0022524,GARD:0016610,,Rare neurologic disease +GARD:0018608,GARD:0022531,GARD:0016610,,Rare genetic disease +GARD:0018608,GARD:0022524,GARD:0016610,,Rare neurologic disease +GARD:0018609,GARD:0022524,GARD:0016610,,Rare neurologic disease +GARD:0018609,GARD:0022531,GARD:0016610,,Rare genetic disease +GARD:0018610,GARD:0022524,GARD:0016610,,Rare neurologic disease +GARD:0018610,GARD:0022531,GARD:0016610,,Rare genetic disease +GARD:0018611,GARD:0022515,GARD:0016564,,Rare cardiac disease +GARD:0018611,GARD:0022531,GARD:0016564,,Rare genetic disease +GARD:0018612,GARD:0022531,GARD:0016564,,Rare genetic disease +GARD:0018612,GARD:0022515,GARD:0016564,,Rare cardiac disease +GARD:0018613,GARD:0022531,GARD:0010416,,Rare genetic disease +GARD:0018613,GARD:0022521,GARD:0010416,,Rare endocrine disease +GARD:0018613,GARD:0022508,GARD:0010416,,Rare inborn errors of metabolism +GARD:0018614,GARD:0022508,GARD:0010416,,Rare inborn errors of metabolism +GARD:0018614,GARD:0022521,GARD:0010416,,Rare endocrine disease +GARD:0018614,GARD:0022531,GARD:0010416,,Rare genetic disease +GARD:0018615,GARD:0022515,GARD:0020525,,Rare cardiac disease +GARD:0018615,GARD:0022531,GARD:0021240,,Rare genetic disease +GARD:0018615,GARD:0022536,GARD:0022065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018615,GARD:0022531,GARD:0020525,,Rare genetic disease +GARD:0018616,GARD:0022524,GARD:0007139,,Rare neurologic disease +GARD:0018616,GARD:0022531,GARD:0007139,,Rare genetic disease +GARD:0018617,GARD:0022531,GARD:0007887,,Rare genetic disease +GARD:0018617,GARD:0022531,GARD:0009255,,Rare genetic disease +GARD:0018617,GARD:0022524,GARD:0007887,,Rare neurologic disease +GARD:0018617,GARD:0022524,GARD:0004694,,Rare neurologic disease +GARD:0018617,GARD:0022524,GARD:0009255,,Rare neurologic disease +GARD:0018617,GARD:0022531,GARD:0004694,,Rare genetic disease +GARD:0018619,GARD:0022524,GARD:0005786,,Rare neurologic disease +GARD:0018620,GARD:0022529,GARD:0010906,,Rare infertility +GARD:0018620,GARD:0022531,GARD:0010906,,Rare genetic disease +GARD:0018620,GARD:0022521,GARD:0010906,,Rare endocrine disease +GARD:0018621,GARD:0022531,GARD:0001288,,Rare genetic disease +GARD:0018621,GARD:0022508,GARD:0001288,,Rare inborn errors of metabolism +GARD:0018621,GARD:0022506,GARD:0001288,,Rare hepatic disease +GARD:0018621,GARD:0022536,GARD:0001288,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018622,GARD:0022513,GARD:0016556,,Rare developmental defect during embryogenesis +GARD:0018622,GARD:0022524,GARD:0016556,,Rare neurologic disease +GARD:0018622,GARD:0022531,GARD:0016556,,Rare genetic disease +GARD:0018622,GARD:0022524,GARD:0006466,,Rare neurologic disease +GARD:0018622,GARD:0022513,GARD:0006466,,Rare developmental defect during embryogenesis +GARD:0018622,GARD:0022531,GARD:0006466,,Rare genetic disease +GARD:0018623,GARD:0022524,GARD:0012107,,Rare neurologic disease +GARD:0018623,GARD:0022531,GARD:0012107,,Rare genetic disease +GARD:0018624,GARD:0022529,GARD:0016771,,Rare infertility +GARD:0018624,GARD:0022531,GARD:0016771,,Rare genetic disease +GARD:0018624,GARD:0022524,GARD:0016771,,Rare neurologic disease +GARD:0018624,GARD:0022514,GARD:0016771,,Rare gynecologic or obstetric disease +GARD:0018624,GARD:0022521,GARD:0016771,,Rare endocrine disease +GARD:0018625,GARD:0022520,GARD:0016637,,Rare ophthalmic disorder +GARD:0018625,GARD:0022513,GARD:0016637,,Rare developmental defect during embryogenesis +GARD:0018625,GARD:0022531,GARD:0016637,,Rare genetic disease +GARD:0018626,GARD:0022520,GARD:0016637,,Rare ophthalmic disorder +GARD:0018626,GARD:0022513,GARD:0016637,,Rare developmental defect during embryogenesis +GARD:0018626,GARD:0022531,GARD:0016637,,Rare genetic disease +GARD:0018627,GARD:0022520,GARD:0016637,,Rare ophthalmic disorder +GARD:0018627,GARD:0022513,GARD:0016637,,Rare developmental defect during embryogenesis +GARD:0018627,GARD:0022531,GARD:0016637,,Rare genetic disease +GARD:0018628,GARD:0022531,GARD:0016637,,Rare genetic disease +GARD:0018628,GARD:0022520,GARD:0016637,,Rare ophthalmic disorder +GARD:0018628,GARD:0022513,GARD:0016637,,Rare developmental defect during embryogenesis +GARD:0018629,GARD:0022520,GARD:0016637,,Rare ophthalmic disorder +GARD:0018629,GARD:0022531,GARD:0016637,,Rare genetic disease +GARD:0018629,GARD:0022513,GARD:0016637,,Rare developmental defect during embryogenesis +GARD:0018630,GARD:0022522,GARD:0016639,,Rare hematologic disease +GARD:0018630,GARD:0022531,GARD:0016639,,Rare genetic disease +GARD:0018631,GARD:0022522,GARD:0016639,,Rare hematologic disease +GARD:0018631,GARD:0022531,GARD:0016639,,Rare genetic disease +GARD:0018632,GARD:0022522,GARD:0016639,,Rare hematologic disease +GARD:0018632,GARD:0022531,GARD:0016639,,Rare genetic disease +GARD:0018633,GARD:0022531,GARD:0016650,,Rare genetic disease +GARD:0018633,GARD:0022515,GARD:0016650,,Rare cardiac disease +GARD:0018634,GARD:0022515,GARD:0016650,,Rare cardiac disease +GARD:0018634,GARD:0022531,GARD:0016650,,Rare genetic disease +GARD:0018635,GARD:0022515,GARD:0016650,,Rare cardiac disease +GARD:0018635,GARD:0022531,GARD:0016650,,Rare genetic disease +GARD:0018636,GARD:0022531,GARD:0017319,,Rare genetic disease +GARD:0018636,GARD:0022511,GARD:0017319,,Rare bone disease +GARD:0018636,GARD:0022521,GARD:0017319,,Rare endocrine disease +GARD:0018636,GARD:0022513,GARD:0017319,,Rare developmental defect during embryogenesis +GARD:0018637,GARD:0022531,GARD:0017533,,Rare genetic disease +GARD:0018637,GARD:0022510,GARD:0017533,,Rare skin disease +GARD:0018638,GARD:0022510,GARD:0017533,,Rare skin disease +GARD:0018638,GARD:0022531,GARD:0017533,,Rare genetic disease +GARD:0018639,GARD:0022531,GARD:0010923,GARD:0018672,Rare genetic disease +GARD:0018639,GARD:0022531,GARD:0019448,GARD:0018669,Rare genetic disease +GARD:0018639,GARD:0022531,GARD:0019448,GARD:0018674,Rare genetic disease +GARD:0018639,GARD:0022510,GARD:0010923,GARD:0018674,Rare skin disease +GARD:0018639,GARD:0022510,GARD:0010923,GARD:0018672,Rare skin disease +GARD:0018639,GARD:0022531,GARD:0010923,GARD:0018674,Rare genetic disease +GARD:0018639,GARD:0022510,GARD:0019448,GARD:0018669,Rare skin disease +GARD:0018639,GARD:0022510,GARD:0019448,GARD:0018674,Rare skin disease +GARD:0018639,GARD:0022531,GARD:0010923,GARD:0018669,Rare genetic disease +GARD:0018639,GARD:0022531,GARD:0019448,GARD:0018672,Rare genetic disease +GARD:0018639,GARD:0022510,GARD:0010923,GARD:0018669,Rare skin disease +GARD:0018639,GARD:0022510,GARD:0019448,GARD:0018672,Rare skin disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022669,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022692,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022688,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022683,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0005613,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0008557,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022687,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022674,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022678,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022669,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022689,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022679,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022673,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022673,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022682,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022686,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022670,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0005614,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022691,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022668,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022684,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022687,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0005613,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022681,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022667,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022677,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022667,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022699,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022699,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022689,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022696,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022690,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022666,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022671,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022695,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022690,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022697,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022695,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022679,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022677,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022688,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022696,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022686,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022697,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022666,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022700,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022671,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022670,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0005614,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022684,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022682,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022692,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022680,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022681,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022694,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0008557,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022672,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022683,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022672,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022674,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022693,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022675,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022678,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022691,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022675,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022698,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022700,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022676,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022694,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022680,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022685,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022676,Rare neurologic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022693,Rare genetic disease +GARD:0018640,GARD:0022531,GARD:0019783,GARD:0022685,Rare genetic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022698,Rare neurologic disease +GARD:0018640,GARD:0022524,GARD:0019783,GARD:0022668,Rare neurologic disease +GARD:0018641,GARD:0022531,GARD:0019436,GARD:0018668,Rare genetic disease +GARD:0018641,GARD:0022524,GARD:0019436,GARD:0018661,Rare neurologic disease +GARD:0018641,GARD:0022531,GARD:0002173,GARD:0018665,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0019569,GARD:0018664,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0022440,GARD:0018664,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0019574,GARD:0018668,Rare genetic disease +GARD:0018641,GARD:0022524,GARD:0002173,GARD:0018668,Rare neurologic disease +GARD:0018641,GARD:0022524,GARD:0019436,GARD:0018663,Rare neurologic disease +GARD:0018641,GARD:0022531,GARD:0022440,GARD:0018663,Rare genetic disease +GARD:0018641,GARD:0022524,GARD:0019436,GARD:0018659,Rare neurologic disease +GARD:0018641,GARD:0022531,GARD:0019569,GARD:0018663,Rare genetic disease +GARD:0018641,GARD:0022524,GARD:0022440,GARD:0018671,Rare neurologic disease +GARD:0018641,GARD:0022531,GARD:0019436,GARD:0018662,Rare genetic disease +GARD:0018641,GARD:0022524,GARD:0002173,GARD:0018661,Rare neurologic disease +GARD:0018641,GARD:0022524,GARD:0022440,GARD:0018662,Rare neurologic disease +GARD:0018641,GARD:0022531,GARD:0019574,GARD:0018671,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0019574,GARD:0018665,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0019436,GARD:0018659,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0019574,GARD:0018664,Rare genetic disease +GARD:0018641,GARD:0022524,GARD:0002173,GARD:0018663,Rare neurologic disease +GARD:0018641,GARD:0022524,GARD:0022440,GARD:0018663,Rare neurologic disease +GARD:0018641,GARD:0022531,GARD:0019574,GARD:0018663,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0022440,GARD:0018668,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0022440,GARD:0018662,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0019574,GARD:0018661,Rare genetic disease +GARD:0018641,GARD:0022524,GARD:0022440,GARD:0018659,Rare neurologic disease +GARD:0018641,GARD:0022531,GARD:0022440,GARD:0018659,Rare genetic disease +GARD:0018641,GARD:0022524,GARD:0002173,GARD:0018671,Rare neurologic disease +GARD:0018641,GARD:0022524,GARD:0002173,GARD:0018665,Rare neurologic disease +GARD:0018641,GARD:0022531,GARD:0002173,GARD:0018659,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0019569,GARD:0018661,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0002173,GARD:0018662,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0019569,GARD:0018665,Rare genetic disease +GARD:0018641,GARD:0022524,GARD:0019436,GARD:0018668,Rare neurologic disease +GARD:0018641,GARD:0022524,GARD:0022440,GARD:0018668,Rare neurologic disease +GARD:0018641,GARD:0022524,GARD:0022440,GARD:0018665,Rare neurologic disease +GARD:0018641,GARD:0022531,GARD:0019569,GARD:0018668,Rare genetic disease +GARD:0018641,GARD:0022524,GARD:0019436,GARD:0018665,Rare neurologic disease +GARD:0018641,GARD:0022531,GARD:0002173,GARD:0018663,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0002173,GARD:0018671,Rare genetic disease +GARD:0018641,GARD:0022524,GARD:0002173,GARD:0018662,Rare neurologic disease +GARD:0018641,GARD:0022531,GARD:0019574,GARD:0018659,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0002173,GARD:0018668,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0019436,GARD:0018664,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0019436,GARD:0018661,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0019436,GARD:0018665,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0019436,GARD:0018663,Rare genetic disease +GARD:0018641,GARD:0022524,GARD:0022440,GARD:0018664,Rare neurologic disease +GARD:0018641,GARD:0022524,GARD:0019436,GARD:0018662,Rare neurologic disease +GARD:0018641,GARD:0022524,GARD:0022440,GARD:0018661,Rare neurologic disease +GARD:0018641,GARD:0022531,GARD:0002173,GARD:0018664,Rare genetic disease +GARD:0018641,GARD:0022531,GARD:0019569,GARD:0018659,Rare genetic disease 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+GARD:0018642,GARD:0022522,GARD:0020607,GARD:0018656,Rare hematologic disease +GARD:0018642,GARD:0022522,GARD:0020607,GARD:0018657,Rare hematologic disease +GARD:0018642,GARD:0022536,GARD:0020607,GARD:0018656,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018642,GARD:0022531,GARD:0020607,GARD:0018656,Rare genetic disease +GARD:0018642,GARD:0022531,GARD:0020607,GARD:0018657,Rare genetic disease +GARD:0018642,GARD:0022536,GARD:0020607,GARD:0018658,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018642,GARD:0022536,GARD:0020607,GARD:0018657,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018642,GARD:0022522,GARD:0020607,GARD:0018658,Rare hematologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022557,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022546,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022576,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022563,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022550,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022543,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022560,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022554,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022566,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022549,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022540,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022550,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022538,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022552,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022541,Rare neurologic disease 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+GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022564,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022555,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022577,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022544,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022546,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022540,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022539,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022555,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022581,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022543,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022570,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022542,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022571,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022565,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022547,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022569,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022567,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022581,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022545,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022551,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022537,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022573,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022552,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022580,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022578,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022562,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022542,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022547,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022580,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022575,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022572,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022558,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022551,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022561,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022541,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022545,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022556,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022562,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022561,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022560,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022574,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022569,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022544,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022578,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022539,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022571,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022565,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022556,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022564,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022537,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022566,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022558,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022559,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022567,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022553,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022574,Rare genetic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022548,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022557,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022553,Rare neurologic disease +GARD:0018643,GARD:0022524,GARD:0019783,GARD:0022570,Rare neurologic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022568,Rare genetic disease +GARD:0018643,GARD:0022531,GARD:0019783,GARD:0022577,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022641,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022610,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022651,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022612,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022639,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022605,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022602,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022648,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022638,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022640,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022632,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022624,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022589,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022660,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022633,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022623,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022643,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022598,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022653,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022599,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022592,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022607,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022661,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022660,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022602,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022649,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022645,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022588,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022594,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022589,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0009919,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022626,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022586,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022625,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022662,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022647,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022640,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022608,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022584,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022635,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022665,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022641,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022628,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022606,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022646,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022630,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022622,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022615,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022657,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022585,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022662,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022621,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022608,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022656,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022591,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022617,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022659,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0018377,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022582,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022591,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022597,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022636,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022644,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022595,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022583,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022655,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022597,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022616,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022617,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022610,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022627,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022652,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022643,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022626,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022593,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022619,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022606,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022599,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022616,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022630,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022583,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022611,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022585,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022652,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022644,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022654,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022657,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022601,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022614,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022587,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0018377,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022627,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022611,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022609,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022587,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022620,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022663,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022642,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0018152,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022654,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022636,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022621,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022646,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022664,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022628,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022658,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022605,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022604,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022588,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022592,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022620,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022615,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022584,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022649,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022590,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022600,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0009935,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022631,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022601,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022659,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022647,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022629,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022624,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022638,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022598,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022618,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022613,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022655,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022595,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022613,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0001697,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022653,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022609,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022632,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022582,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022648,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022614,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022637,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022634,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022596,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022603,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022590,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022604,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022642,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022625,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022607,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022594,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022637,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022596,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022623,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022593,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022650,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022639,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022635,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022651,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022631,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0018152,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022634,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022622,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022665,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0001697,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0009935,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022664,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022663,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0009918,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022629,Rare genetic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0009919,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022633,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022600,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022661,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022603,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022645,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022619,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0009918,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022656,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022658,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022650,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022531,GARD:0019091,GARD:0022618,Rare genetic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022586,Rare otorhinolaryngologic disease +GARD:0018644,GARD:0022528,GARD:0019091,GARD:0022612,Rare otorhinolaryngologic disease +GARD:0018645,GARD:0022536,GARD:0000206,GARD:0018183,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018645,GARD:0022512,GARD:0000206,GARD:0018183,Rare renal disease +GARD:0018645,GARD:0022531,GARD:0000206,GARD:0018183,Rare genetic disease +GARD:0018646,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018646,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018646,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018646,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0018646,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0018647,GARD:0022531,GARD:0021873,,Rare genetic disease +GARD:0018648,GARD:0022531,GARD:0012459,GARD:0018657,Rare genetic disease +GARD:0018648,GARD:0022531,GARD:0012459,GARD:0018656,Rare genetic disease +GARD:0018648,GARD:0022536,GARD:0012459,GARD:0018658,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018648,GARD:0022536,GARD:0012459,GARD:0018656,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018648,GARD:0022522,GARD:0012459,GARD:0018658,Rare hematologic disease +GARD:0018648,GARD:0022522,GARD:0012459,GARD:0018657,Rare hematologic disease +GARD:0018648,GARD:0022531,GARD:0012459,GARD:0018658,Rare genetic disease +GARD:0018648,GARD:0022536,GARD:0012459,GARD:0018657,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018648,GARD:0022522,GARD:0012459,GARD:0018656,Rare hematologic disease +GARD:0018649,GARD:0022531,GARD:0020766,GARD:0018667,Rare genetic disease +GARD:0018649,GARD:0022508,GARD:0020766,GARD:0018666,Rare inborn errors of metabolism +GARD:0018649,GARD:0022508,GARD:0020766,GARD:0018667,Rare inborn errors of metabolism +GARD:0018649,GARD:0022531,GARD:0020766,GARD:0018673,Rare genetic disease +GARD:0018649,GARD:0022531,GARD:0020766,GARD:0018670,Rare genetic disease +GARD:0018649,GARD:0022508,GARD:0020766,GARD:0018673,Rare inborn errors of metabolism +GARD:0018649,GARD:0022531,GARD:0020766,GARD:0018666,Rare genetic disease +GARD:0018649,GARD:0022508,GARD:0020766,GARD:0018670,Rare inborn errors of metabolism +GARD:0018649,GARD:0022531,GARD:0020766,GARD:0018660,Rare genetic disease +GARD:0018649,GARD:0022508,GARD:0020766,GARD:0018660,Rare inborn errors of metabolism +GARD:0018650,GARD:0022531,GARD:0019000,,Rare genetic disease +GARD:0018650,GARD:0022510,GARD:0019000,,Rare skin disease +GARD:0018651,GARD:0022520,GARD:0022105,,Rare ophthalmic disorder +GARD:0018651,GARD:0022531,GARD:0022105,,Rare genetic disease +GARD:0018652,GARD:0022508,GARD:0018962,,Rare inborn errors of metabolism +GARD:0018652,GARD:0022531,GARD:0018962,,Rare genetic disease +GARD:0018653,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0018653,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0018654,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0018654,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0018654,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0018654,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0018654,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0018654,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0018654,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0018654,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0018654,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0018654,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018655,GARD:0022524,GARD:0022314,,Rare neurologic disease +GARD:0018655,GARD:0022511,GARD:0022314,,Rare bone disease +GARD:0018655,GARD:0022531,GARD:0022314,,Rare genetic disease +GARD:0018655,GARD:0022513,GARD:0022314,,Rare developmental defect during embryogenesis +GARD:0018656,GARD:0022522,GARD:0018642,,Rare hematologic disease +GARD:0018656,GARD:0022531,GARD:0018642,,Rare genetic disease +GARD:0018656,GARD:0022536,GARD:0018648,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018656,GARD:0022531,GARD:0018648,,Rare genetic disease +GARD:0018656,GARD:0022536,GARD:0018642,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018656,GARD:0022522,GARD:0018648,,Rare hematologic disease +GARD:0018657,GARD:0022531,GARD:0018648,,Rare genetic disease +GARD:0018657,GARD:0022522,GARD:0018642,,Rare hematologic disease +GARD:0018657,GARD:0022531,GARD:0018642,,Rare genetic disease +GARD:0018657,GARD:0022522,GARD:0018648,,Rare hematologic disease +GARD:0018657,GARD:0022536,GARD:0018642,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018657,GARD:0022536,GARD:0018648,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018658,GARD:0022531,GARD:0018648,,Rare genetic disease +GARD:0018658,GARD:0022536,GARD:0018648,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018658,GARD:0022522,GARD:0018642,,Rare hematologic disease +GARD:0018658,GARD:0022536,GARD:0018642,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018658,GARD:0022522,GARD:0018648,,Rare hematologic disease +GARD:0018658,GARD:0022531,GARD:0018642,,Rare genetic disease +GARD:0018659,GARD:0022531,GARD:0018641,,Rare genetic disease +GARD:0018659,GARD:0022524,GARD:0018641,,Rare neurologic disease +GARD:0018660,GARD:0022531,GARD:0018649,,Rare genetic disease +GARD:0018660,GARD:0022508,GARD:0018649,,Rare inborn errors of metabolism +GARD:0018661,GARD:0022531,GARD:0018641,,Rare genetic disease +GARD:0018661,GARD:0022524,GARD:0018641,,Rare neurologic disease +GARD:0018662,GARD:0022524,GARD:0018641,,Rare neurologic disease +GARD:0018662,GARD:0022531,GARD:0018641,,Rare genetic disease +GARD:0018663,GARD:0022524,GARD:0018641,,Rare neurologic disease +GARD:0018663,GARD:0022531,GARD:0018641,,Rare genetic disease +GARD:0018664,GARD:0022524,GARD:0018641,,Rare neurologic disease +GARD:0018664,GARD:0022531,GARD:0018641,,Rare genetic disease +GARD:0018665,GARD:0022531,GARD:0018641,,Rare genetic disease +GARD:0018665,GARD:0022524,GARD:0018641,,Rare neurologic disease +GARD:0018666,GARD:0022531,GARD:0018649,,Rare genetic disease +GARD:0018666,GARD:0022508,GARD:0018649,,Rare inborn errors of metabolism +GARD:0018667,GARD:0022508,GARD:0018649,,Rare inborn errors of metabolism +GARD:0018667,GARD:0022531,GARD:0018649,,Rare genetic disease +GARD:0018668,GARD:0022524,GARD:0018641,,Rare neurologic disease +GARD:0018668,GARD:0022531,GARD:0018641,,Rare genetic disease +GARD:0018669,GARD:0022531,GARD:0018639,,Rare genetic disease +GARD:0018669,GARD:0022510,GARD:0018639,,Rare skin disease +GARD:0018670,GARD:0022508,GARD:0018649,,Rare inborn errors of metabolism +GARD:0018670,GARD:0022531,GARD:0018649,,Rare genetic disease +GARD:0018671,GARD:0022531,GARD:0018641,,Rare genetic disease +GARD:0018671,GARD:0022524,GARD:0018641,,Rare neurologic disease +GARD:0018672,GARD:0022531,GARD:0018639,,Rare genetic disease +GARD:0018672,GARD:0022510,GARD:0018639,,Rare skin disease +GARD:0018673,GARD:0022531,GARD:0018649,,Rare genetic disease +GARD:0018673,GARD:0022508,GARD:0018649,,Rare inborn errors of metabolism +GARD:0018674,GARD:0022510,GARD:0018639,,Rare skin disease +GARD:0018674,GARD:0022531,GARD:0018639,,Rare genetic disease +GARD:0018675,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0018676,GARD:0022536,GARD:0022060,GARD:0021828,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018676,GARD:0022525,GARD:0020255,GARD:0010266,Rare systemic or rheumatologic disease +GARD:0018676,GARD:0022525,GARD:0020255,GARD:0008282,Rare systemic or rheumatologic disease +GARD:0018676,GARD:0022536,GARD:0022060,GARD:0005797,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018676,GARD:0022525,GARD:0020255,GARD:0021017,Rare systemic or rheumatologic disease +GARD:0018676,GARD:0022525,GARD:0020255,GARD:0021827,Rare systemic or rheumatologic disease +GARD:0018676,GARD:0022525,GARD:0020255,GARD:0002339,Rare systemic or rheumatologic disease +GARD:0018676,GARD:0022536,GARD:0022060,GARD:0017741,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018676,GARD:0022536,GARD:0022060,GARD:0021827,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018676,GARD:0022525,GARD:0020255,GARD:0021829,Rare systemic or rheumatologic disease +GARD:0018676,GARD:0022536,GARD:0022060,GARD:0010560,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018676,GARD:0022536,GARD:0022060,GARD:0008282,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018676,GARD:0022536,GARD:0022060,GARD:0002339,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018676,GARD:0022525,GARD:0020255,GARD:0021501,Rare systemic or rheumatologic disease +GARD:0018676,GARD:0022536,GARD:0022060,GARD:0021017,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018676,GARD:0022536,GARD:0022060,GARD:0021829,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018676,GARD:0022536,GARD:0022060,GARD:0010266,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018676,GARD:0022536,GARD:0022060,GARD:0021847,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018676,GARD:0022525,GARD:0020255,GARD:0017741,Rare systemic or rheumatologic disease +GARD:0018676,GARD:0022525,GARD:0020255,GARD:0021828,Rare systemic or rheumatologic disease +GARD:0018676,GARD:0022525,GARD:0020255,GARD:0021847,Rare systemic or rheumatologic disease +GARD:0018676,GARD:0022525,GARD:0020255,GARD:0005797,Rare systemic or rheumatologic disease +GARD:0018676,GARD:0022525,GARD:0020255,GARD:0010560,Rare systemic or rheumatologic disease +GARD:0018676,GARD:0022536,GARD:0022060,GARD:0021501,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018677,GARD:0022536,GARD:0020927,GARD:0004261,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018677,GARD:0022517,GARD:0020927,GARD:0004261,Rare respiratory disease +GARD:0018677,GARD:0021079,GARD:0021997,GARD:0010969,Rare systemic or rheumatological disease of childhood +GARD:0018677,GARD:0022525,GARD:0020257,GARD:0019155,Rare systemic or rheumatologic disease +GARD:0018677,GARD:0022517,GARD:0020927,GARD:0010969,Rare respiratory disease +GARD:0018677,GARD:0022525,GARD:0020257,GARD:0004261,Rare systemic or rheumatologic disease +GARD:0018677,GARD:0022517,GARD:0020927,GARD:0010966,Rare respiratory disease +GARD:0018677,GARD:0021079,GARD:0021997,GARD:0004261,Rare systemic or rheumatological disease of childhood +GARD:0018677,GARD:0022517,GARD:0020927,GARD:0010970,Rare respiratory disease +GARD:0018677,GARD:0022525,GARD:0020257,GARD:0010969,Rare systemic or rheumatologic disease +GARD:0018677,GARD:0022536,GARD:0020927,GARD:0019155,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018677,GARD:0021079,GARD:0021997,GARD:0021729,Rare systemic or rheumatological disease of childhood +GARD:0018677,GARD:0022525,GARD:0020257,GARD:0021729,Rare systemic or rheumatologic disease +GARD:0018677,GARD:0022536,GARD:0020927,GARD:0021729,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018677,GARD:0022525,GARD:0020257,GARD:0010970,Rare systemic or rheumatologic disease +GARD:0018677,GARD:0022536,GARD:0020927,GARD:0010969,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018677,GARD:0021079,GARD:0021997,GARD:0010970,Rare systemic or rheumatological disease of childhood +GARD:0018677,GARD:0022536,GARD:0020927,GARD:0010970,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018677,GARD:0021079,GARD:0021997,GARD:0010966,Rare systemic or rheumatological disease of childhood +GARD:0018677,GARD:0022517,GARD:0020927,GARD:0021729,Rare respiratory disease +GARD:0018677,GARD:0022536,GARD:0020927,GARD:0010966,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018677,GARD:0021079,GARD:0021997,GARD:0019155,Rare systemic or rheumatological disease of childhood +GARD:0018677,GARD:0022517,GARD:0020927,GARD:0019155,Rare respiratory disease +GARD:0018677,GARD:0022525,GARD:0020257,GARD:0010966,Rare systemic or rheumatologic disease +GARD:0018678,GARD:0022531,GARD:0021804,,Rare genetic disease +GARD:0018678,GARD:0022536,GARD:0021804,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018678,GARD:0022513,GARD:0021804,,Rare developmental defect during embryogenesis +GARD:0018678,GARD:0022532,GARD:0021804,,Rare urogenital disease +GARD:0018678,GARD:0022512,GARD:0021804,,Rare renal disease +GARD:0018679,GARD:0022513,GARD:0008542,GARD:0006189,Rare developmental defect during embryogenesis +GARD:0018679,GARD:0022511,GARD:0008542,GARD:0016716,Rare bone disease +GARD:0018679,GARD:0022531,GARD:0008542,GARD:0016715,Rare genetic disease +GARD:0018679,GARD:0022511,GARD:0008542,GARD:0006189,Rare bone disease +GARD:0018679,GARD:0022531,GARD:0008542,GARD:0016716,Rare genetic disease +GARD:0018679,GARD:0022531,GARD:0008542,GARD:0001296,Rare genetic disease +GARD:0018679,GARD:0022511,GARD:0008542,GARD:0016715,Rare bone disease +GARD:0018679,GARD:0022511,GARD:0008542,GARD:0001296,Rare bone disease +GARD:0018679,GARD:0022513,GARD:0008542,GARD:0001296,Rare developmental defect during embryogenesis +GARD:0018679,GARD:0022531,GARD:0008542,GARD:0006189,Rare genetic disease +GARD:0018679,GARD:0022513,GARD:0008542,GARD:0016715,Rare developmental defect during embryogenesis +GARD:0018679,GARD:0022513,GARD:0008542,GARD:0016716,Rare developmental defect during embryogenesis +GARD:0018680,GARD:0022519,GARD:0019556,,Rare surgical cardiac disease +GARD:0018680,GARD:0022527,GARD:0019556,,Rare circulatory system disease +GARD:0018680,GARD:0022527,GARD:0019559,,Rare circulatory system disease +GARD:0018680,GARD:0022513,GARD:0019559,,Rare developmental defect during embryogenesis +GARD:0018680,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0018680,GARD:0022519,GARD:0019559,,Rare surgical cardiac disease +GARD:0018680,GARD:0022513,GARD:0019556,,Rare developmental defect during embryogenesis +GARD:0018681,GARD:0022513,GARD:0020338,,Rare developmental defect during embryogenesis +GARD:0018681,GARD:0022524,GARD:0020338,,Rare neurologic disease +GARD:0018682,GARD:0022531,GARD:0020312,GARD:0019724,Rare genetic disease +GARD:0018682,GARD:0022521,GARD:0019796,GARD:0016701,Rare endocrine disease +GARD:0018682,GARD:0022531,GARD:0020312,GARD:0010457,Rare genetic disease +GARD:0018682,GARD:0022531,GARD:0020312,GARD:0001839,Rare genetic disease +GARD:0018682,GARD:0022521,GARD:0019796,GARD:0001839,Rare endocrine disease +GARD:0018682,GARD:0022531,GARD:0020312,GARD:0016670,Rare genetic disease +GARD:0018682,GARD:0022521,GARD:0019796,GARD:0019724,Rare endocrine disease +GARD:0018682,GARD:0022531,GARD:0020312,GARD:0016701,Rare genetic disease +GARD:0018682,GARD:0022521,GARD:0019796,GARD:0016670,Rare endocrine disease +GARD:0018682,GARD:0022521,GARD:0019796,GARD:0010457,Rare endocrine disease +GARD:0018683,GARD:0022513,GARD:0020866,,Rare developmental defect during embryogenesis +GARD:0018683,GARD:0022520,GARD:0022089,,Rare ophthalmic disorder +GARD:0018683,GARD:0022531,GARD:0020866,,Rare genetic disease +GARD:0018683,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0018683,GARD:0022531,GARD:0022180,,Rare genetic disease +GARD:0018683,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0018684,GARD:0022531,GARD:0019859,,Rare genetic disease +GARD:0018684,GARD:0022536,GARD:0019859,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018684,GARD:0022534,GARD:0019859,,Rare abdominal surgical disease +GARD:0018684,GARD:0022513,GARD:0019859,,Rare developmental defect during embryogenesis +GARD:0018685,GARD:0022531,GARD:0021567,GARD:0017782,Rare genetic disease +GARD:0018685,GARD:0022531,GARD:0021567,GARD:0003047,Rare genetic disease +GARD:0018685,GARD:0022511,GARD:0021567,GARD:0003047,Rare bone disease +GARD:0018685,GARD:0022531,GARD:0021567,GARD:0018016,Rare genetic disease +GARD:0018685,GARD:0022511,GARD:0021567,GARD:0010647,Rare bone disease +GARD:0018685,GARD:0022531,GARD:0021567,GARD:0008720,Rare genetic disease +GARD:0018685,GARD:0022513,GARD:0021567,GARD:0021587,Rare developmental defect during embryogenesis +GARD:0018685,GARD:0022531,GARD:0021567,GARD:0004991,Rare genetic disease +GARD:0018685,GARD:0022531,GARD:0021567,GARD:0021587,Rare genetic disease +GARD:0018685,GARD:0022511,GARD:0021567,GARD:0021587,Rare bone disease +GARD:0018685,GARD:0022513,GARD:0021567,GARD:0008717,Rare developmental defect during embryogenesis +GARD:0018685,GARD:0022513,GARD:0021567,GARD:0000458,Rare developmental defect during embryogenesis +GARD:0018685,GARD:0022513,GARD:0021567,GARD:0004991,Rare developmental defect during embryogenesis +GARD:0018685,GARD:0022511,GARD:0021567,GARD:0000458,Rare bone disease +GARD:0018685,GARD:0022513,GARD:0021567,GARD:0017782,Rare developmental defect during embryogenesis +GARD:0018685,GARD:0022531,GARD:0021567,GARD:0008717,Rare genetic disease +GARD:0018685,GARD:0022511,GARD:0021567,GARD:0008717,Rare bone disease +GARD:0018685,GARD:0022513,GARD:0021567,GARD:0004978,Rare developmental defect during embryogenesis +GARD:0018685,GARD:0022511,GARD:0021567,GARD:0000504,Rare bone disease +GARD:0018685,GARD:0022513,GARD:0021567,GARD:0010647,Rare developmental defect during embryogenesis +GARD:0018685,GARD:0022511,GARD:0021567,GARD:0018016,Rare bone disease +GARD:0018685,GARD:0022511,GARD:0021567,GARD:0008343,Rare bone disease +GARD:0018685,GARD:0022511,GARD:0021567,GARD:0017782,Rare bone disease +GARD:0018685,GARD:0022513,GARD:0021567,GARD:0003047,Rare developmental defect during embryogenesis +GARD:0018685,GARD:0022531,GARD:0021567,GARD:0010647,Rare genetic disease +GARD:0018685,GARD:0022531,GARD:0021567,GARD:0008343,Rare genetic disease +GARD:0018685,GARD:0022531,GARD:0021567,GARD:0000458,Rare genetic disease +GARD:0018685,GARD:0022511,GARD:0021567,GARD:0004991,Rare bone disease +GARD:0018685,GARD:0022513,GARD:0021567,GARD:0008343,Rare developmental defect during embryogenesis +GARD:0018685,GARD:0022513,GARD:0021567,GARD:0008720,Rare developmental defect during embryogenesis +GARD:0018685,GARD:0022513,GARD:0021567,GARD:0008719,Rare developmental defect during embryogenesis +GARD:0018685,GARD:0022511,GARD:0021567,GARD:0008720,Rare bone disease +GARD:0018685,GARD:0022531,GARD:0021567,GARD:0000504,Rare genetic disease +GARD:0018685,GARD:0022511,GARD:0021567,GARD:0008719,Rare bone disease +GARD:0018685,GARD:0022513,GARD:0021567,GARD:0018016,Rare developmental defect during embryogenesis +GARD:0018685,GARD:0022511,GARD:0021567,GARD:0004978,Rare bone disease +GARD:0018685,GARD:0022513,GARD:0021567,GARD:0000504,Rare developmental defect during embryogenesis +GARD:0018685,GARD:0022531,GARD:0021567,GARD:0004978,Rare genetic disease +GARD:0018685,GARD:0022531,GARD:0021567,GARD:0008719,Rare genetic disease +GARD:0018686,GARD:0022531,GARD:0020360,GARD:0005900,Rare genetic disease +GARD:0018686,GARD:0022524,GARD:0020360,GARD:0006291,Rare neurologic disease +GARD:0018686,GARD:0022536,GARD:0020526,GARD:0020350,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018686,GARD:0022536,GARD:0020526,GARD:0005900,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018686,GARD:0022531,GARD:0020526,GARD:0006291,Rare genetic disease +GARD:0018686,GARD:0022515,GARD:0020526,GARD:0006291,Rare cardiac disease +GARD:0018686,GARD:0022515,GARD:0020526,GARD:0020350,Rare cardiac disease +GARD:0018686,GARD:0022531,GARD:0020526,GARD:0020350,Rare genetic disease +GARD:0018686,GARD:0022531,GARD:0020360,GARD:0020350,Rare genetic disease +GARD:0018686,GARD:0022515,GARD:0020526,GARD:0005900,Rare cardiac disease +GARD:0018686,GARD:0022524,GARD:0020360,GARD:0005900,Rare neurologic disease +GARD:0018686,GARD:0022536,GARD:0020526,GARD:0006291,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018686,GARD:0022531,GARD:0020526,GARD:0005900,Rare genetic disease +GARD:0018686,GARD:0022524,GARD:0020360,GARD:0020350,Rare neurologic disease +GARD:0018686,GARD:0022531,GARD:0020360,GARD:0006291,Rare genetic disease +GARD:0018687,GARD:0022509,GARD:0020626,,Rare infectious disease +GARD:0018687,GARD:0022505,GARD:0020626,,Rare teratologic disease +GARD:0018687,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0018687,GARD:0022513,GARD:0020626,,Rare developmental defect during embryogenesis +GARD:0018688,GARD:0022524,GARD:0019437,GARD:0005648,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019437,GARD:0020080,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019437,GARD:0020079,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019438,GARD:0020078,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019438,GARD:0020082,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019437,GARD:0017029,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019438,GARD:0020079,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019437,GARD:0020082,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019438,GARD:0020077,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019438,GARD:0020080,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019437,GARD:0017028,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019437,GARD:0020078,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019438,GARD:0020081,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019438,GARD:0017029,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019437,GARD:0020077,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019437,GARD:0020081,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019438,GARD:0005648,Rare neurologic disease +GARD:0018688,GARD:0022524,GARD:0019438,GARD:0017028,Rare neurologic disease +GARD:0018689,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0018690,GARD:0022509,GARD:0020045,GARD:0006038,Rare infectious disease +GARD:0018690,GARD:0022509,GARD:0020045,GARD:0007914,Rare infectious disease +GARD:0018690,GARD:0022509,GARD:0020045,GARD:0006254,Rare infectious disease +GARD:0018691,GARD:0022531,GARD:0018973,GARD:0003858,Rare genetic disease +GARD:0018691,GARD:0022531,GARD:0018973,GARD:0016711,Rare genetic disease +GARD:0018691,GARD:0022531,GARD:0018973,GARD:0017261,Rare genetic disease +GARD:0018691,GARD:0022508,GARD:0018973,GARD:0016711,Rare inborn errors of metabolism +GARD:0018691,GARD:0022508,GARD:0018973,GARD:0003858,Rare inborn errors of metabolism +GARD:0018691,GARD:0022508,GARD:0018973,GARD:0017261,Rare inborn errors of metabolism +GARD:0018692,GARD:0022509,GARD:0020047,,Rare infectious disease +GARD:0018693,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0018693,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0018693,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0018694,GARD:0022510,GARD:0018990,GARD:0006829,Rare skin disease +GARD:0018694,GARD:0022510,GARD:0018990,GARD:0009744,Rare skin disease +GARD:0018694,GARD:0022531,GARD:0018991,GARD:0009744,Rare genetic disease +GARD:0018694,GARD:0022510,GARD:0018990,GARD:0005395,Rare skin disease +GARD:0018694,GARD:0022531,GARD:0018991,GARD:0005395,Rare genetic disease +GARD:0018694,GARD:0022531,GARD:0018991,GARD:0006829,Rare genetic disease +GARD:0018695,GARD:0022512,GARD:0022292,,Rare renal disease +GARD:0018695,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0018695,GARD:0022512,GARD:0019227,,Rare renal disease +GARD:0018695,GARD:0022536,GARD:0022292,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018696,GARD:0022510,GARD:0007743,,Rare skin disease +GARD:0018697,GARD:0022510,GARD:0020161,GARD:0021247,Rare skin disease +GARD:0018697,GARD:0022535,GARD:0020161,GARD:0006944,Rare neoplastic disease +GARD:0018697,GARD:0022536,GARD:0020161,GARD:0006944,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018697,GARD:0022510,GARD:0020161,GARD:0006944,Rare skin disease +GARD:0018697,GARD:0022522,GARD:0020161,GARD:0006944,Rare hematologic disease +GARD:0018697,GARD:0022536,GARD:0020161,GARD:0021247,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018697,GARD:0022535,GARD:0020161,GARD:0021247,Rare neoplastic disease +GARD:0018697,GARD:0022522,GARD:0020161,GARD:0021247,Rare hematologic disease +GARD:0018698,GARD:0022510,GARD:0019014,GARD:0006226,Rare skin disease +GARD:0018698,GARD:0022522,GARD:0021064,GARD:0020165,Rare hematologic disease +GARD:0018698,GARD:0022535,GARD:0019014,GARD:0020165,Rare neoplastic disease +GARD:0018698,GARD:0022535,GARD:0021064,GARD:0020165,Rare neoplastic disease +GARD:0018698,GARD:0022510,GARD:0019014,GARD:0020165,Rare skin disease +GARD:0018698,GARD:0022535,GARD:0019014,GARD:0006226,Rare neoplastic disease +GARD:0018698,GARD:0022522,GARD:0021064,GARD:0006226,Rare hematologic disease +GARD:0018698,GARD:0022536,GARD:0021064,GARD:0006226,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018698,GARD:0022535,GARD:0021064,GARD:0006226,Rare neoplastic disease +GARD:0018698,GARD:0022536,GARD:0021064,GARD:0020165,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018699,GARD:0022524,GARD:0020358,GARD:0020362,Rare neurologic disease +GARD:0018699,GARD:0022524,GARD:0020358,GARD:0020361,Rare neurologic disease +GARD:0018699,GARD:0022531,GARD:0020358,GARD:0020361,Rare genetic disease +GARD:0018699,GARD:0022531,GARD:0020358,GARD:0020362,Rare genetic disease +GARD:0018700,GARD:0022513,GARD:0020253,GARD:0022236,Rare developmental defect during embryogenesis +GARD:0018700,GARD:0022512,GARD:0019217,GARD:0020641,Rare renal disease +GARD:0018700,GARD:0022513,GARD:0020253,GARD:0020641,Rare developmental defect during embryogenesis +GARD:0018700,GARD:0022512,GARD:0019217,GARD:0020639,Rare renal disease +GARD:0018700,GARD:0022536,GARD:0019217,GARD:0020639,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018700,GARD:0022512,GARD:0019217,GARD:0020640,Rare renal disease +GARD:0018700,GARD:0022536,GARD:0019217,GARD:0020641,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018700,GARD:0022531,GARD:0021540,GARD:0020641,Rare genetic disease +GARD:0018700,GARD:0022513,GARD:0019217,GARD:0020640,Rare developmental defect during embryogenesis +GARD:0018700,GARD:0022513,GARD:0019217,GARD:0020642,Rare developmental defect during embryogenesis +GARD:0018700,GARD:0022513,GARD:0019217,GARD:0020639,Rare developmental defect during embryogenesis +GARD:0018700,GARD:0022532,GARD:0020253,GARD:0020640,Rare urogenital disease +GARD:0018700,GARD:0022512,GARD:0019217,GARD:0022236,Rare renal disease +GARD:0018700,GARD:0022532,GARD:0020253,GARD:0022236,Rare urogenital disease +GARD:0018700,GARD:0022531,GARD:0021540,GARD:0020639,Rare genetic disease +GARD:0018700,GARD:0022513,GARD:0019217,GARD:0020641,Rare developmental defect during embryogenesis +GARD:0018700,GARD:0022513,GARD:0020253,GARD:0020640,Rare developmental defect during embryogenesis +GARD:0018700,GARD:0022536,GARD:0020253,GARD:0020639,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018700,GARD:0022536,GARD:0020253,GARD:0020642,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018700,GARD:0022512,GARD:0019217,GARD:0020642,Rare renal disease +GARD:0018700,GARD:0022531,GARD:0021540,GARD:0020640,Rare genetic disease +GARD:0018700,GARD:0022536,GARD:0020253,GARD:0020641,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018700,GARD:0022536,GARD:0019217,GARD:0020642,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018700,GARD:0022536,GARD:0019217,GARD:0020640,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018700,GARD:0022513,GARD:0019217,GARD:0022236,Rare developmental defect during embryogenesis +GARD:0018700,GARD:0022536,GARD:0020253,GARD:0022236,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018700,GARD:0022531,GARD:0021540,GARD:0022236,Rare genetic disease +GARD:0018700,GARD:0022532,GARD:0020253,GARD:0020642,Rare urogenital disease +GARD:0018700,GARD:0022513,GARD:0020253,GARD:0020639,Rare developmental defect during embryogenesis +GARD:0018700,GARD:0022513,GARD:0020253,GARD:0020642,Rare developmental defect during embryogenesis +GARD:0018700,GARD:0022531,GARD:0021540,GARD:0020642,Rare genetic disease +GARD:0018700,GARD:0022532,GARD:0020253,GARD:0020641,Rare urogenital disease +GARD:0018700,GARD:0022532,GARD:0020253,GARD:0020639,Rare urogenital disease +GARD:0018700,GARD:0022536,GARD:0020253,GARD:0020640,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018700,GARD:0022536,GARD:0019217,GARD:0022236,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018701,GARD:0022525,GARD:0022525,GARD:0008605,Rare systemic or rheumatologic disease +GARD:0018701,GARD:0022530,GARD:0022530,GARD:0005979,Rare allergic disease +GARD:0018701,GARD:0022530,GARD:0022530,GARD:0008605,Rare allergic disease +GARD:0018701,GARD:0022525,GARD:0022525,GARD:0005979,Rare systemic or rheumatologic disease +GARD:0018702,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0018703,GARD:0022531,GARD:0018997,,Rare genetic disease +GARD:0018703,GARD:0022510,GARD:0018997,,Rare skin disease +GARD:0018704,GARD:0022509,GARD:0020044,GARD:0021855,Rare infectious disease +GARD:0018704,GARD:0022509,GARD:0020044,GARD:0009564,Rare infectious disease +GARD:0018704,GARD:0022509,GARD:0020044,GARD:0021449,Rare infectious disease +GARD:0018705,GARD:0022510,GARD:0021160,GARD:0007058,Rare skin disease +GARD:0018705,GARD:0022510,GARD:0021160,GARD:0009748,Rare skin disease +GARD:0018706,GARD:0022524,GARD:0019815,,Rare neurologic disease +GARD:0018707,GARD:0022506,GARD:0019788,,Rare hepatic disease +GARD:0018708,GARD:0022513,GARD:0020626,,Rare developmental defect during embryogenesis +GARD:0018708,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0018708,GARD:0022509,GARD:0020626,,Rare infectious disease +GARD:0018708,GARD:0022505,GARD:0020626,,Rare teratologic disease +GARD:0018708,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0018709,GARD:0022515,GARD:0020097,,Rare cardiac disease +GARD:0018709,GARD:0022535,GARD:0020097,,Rare neoplastic disease +GARD:0018710,GARD:0022535,GARD:0020097,,Rare neoplastic disease +GARD:0018710,GARD:0022515,GARD:0020097,,Rare cardiac disease +GARD:0018711,GARD:0022536,GARD:0019706,GARD:0000319,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018711,GARD:0022536,GARD:0019706,GARD:0019943,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018711,GARD:0022535,GARD:0019706,GARD:0019943,Rare neoplastic disease +GARD:0018711,GARD:0022535,GARD:0019706,GARD:0020735,Rare neoplastic disease +GARD:0018711,GARD:0022536,GARD:0019706,GARD:0020735,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018711,GARD:0022536,GARD:0019706,GARD:0019948,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018711,GARD:0022535,GARD:0019706,GARD:0000319,Rare neoplastic disease +GARD:0018711,GARD:0022535,GARD:0019706,GARD:0019948,Rare neoplastic disease +GARD:0018712,GARD:0022519,GARD:0019553,,Rare surgical cardiac disease +GARD:0018712,GARD:0022527,GARD:0019553,,Rare circulatory system disease +GARD:0018712,GARD:0022513,GARD:0019553,,Rare developmental defect during embryogenesis +GARD:0018713,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0018713,GARD:0022531,GARD:0021514,,Rare genetic disease +GARD:0018713,GARD:0022523,GARD:0021514,,Rare immune disease +GARD:0018714,GARD:0022522,GARD:0019869,GARD:0019453,Rare hematologic disease +GARD:0018714,GARD:0022522,GARD:0019869,GARD:0008249,Rare hematologic disease +GARD:0018715,GARD:0022531,GARD:0005049,,Rare genetic disease +GARD:0018715,GARD:0022513,GARD:0005049,,Rare developmental defect during embryogenesis +GARD:0018715,GARD:0022524,GARD:0005049,,Rare neurologic disease +GARD:0018716,GARD:0022511,GARD:0021187,,Rare bone disease +GARD:0018716,GARD:0022531,GARD:0021187,,Rare genetic disease +GARD:0018716,GARD:0022513,GARD:0021187,,Rare developmental defect during embryogenesis +GARD:0018717,GARD:0022519,GARD:0008189,GARD:0004586,Rare surgical cardiac disease +GARD:0018717,GARD:0022513,GARD:0008189,GARD:0019619,Rare developmental defect during embryogenesis +GARD:0018717,GARD:0022519,GARD:0008189,GARD:0019619,Rare surgical cardiac disease +GARD:0018717,GARD:0022513,GARD:0008189,GARD:0004586,Rare developmental defect during embryogenesis +GARD:0018718,GARD:0022531,GARD:0020286,GARD:0019414,Rare genetic disease +GARD:0018718,GARD:0022531,GARD:0020286,GARD:0019416,Rare genetic disease +GARD:0018718,GARD:0022524,GARD:0020286,GARD:0021719,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0019487,GARD:0017689,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0019487,GARD:0021719,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0019487,GARD:0004954,Rare neurologic disease +GARD:0018718,GARD:0022531,GARD:0020286,GARD:0019415,Rare genetic disease +GARD:0018718,GARD:0022531,GARD:0019487,GARD:0019413,Rare genetic disease +GARD:0018718,GARD:0022524,GARD:0019487,GARD:0019413,Rare neurologic disease +GARD:0018718,GARD:0022531,GARD:0019487,GARD:0012234,Rare genetic disease +GARD:0018718,GARD:0022524,GARD:0020286,GARD:0019416,Rare neurologic disease +GARD:0018718,GARD:0022531,GARD:0020286,GARD:0012232,Rare genetic disease +GARD:0018718,GARD:0022531,GARD:0020286,GARD:0004954,Rare genetic disease +GARD:0018718,GARD:0022531,GARD:0019487,GARD:0019412,Rare genetic disease +GARD:0018718,GARD:0022531,GARD:0019487,GARD:0012232,Rare genetic disease +GARD:0018718,GARD:0022531,GARD:0020286,GARD:0017689,Rare genetic disease +GARD:0018718,GARD:0022524,GARD:0019487,GARD:0017314,Rare neurologic disease +GARD:0018718,GARD:0022531,GARD:0019487,GARD:0019414,Rare genetic disease +GARD:0018718,GARD:0022524,GARD:0020286,GARD:0019415,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0020286,GARD:0019413,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0020286,GARD:0004954,Rare neurologic disease +GARD:0018718,GARD:0022531,GARD:0019487,GARD:0017689,Rare genetic disease +GARD:0018718,GARD:0022524,GARD:0019487,GARD:0019412,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0020286,GARD:0012232,Rare neurologic disease +GARD:0018718,GARD:0022531,GARD:0020286,GARD:0017314,Rare genetic disease +GARD:0018718,GARD:0022531,GARD:0020286,GARD:0012234,Rare genetic disease +GARD:0018718,GARD:0022524,GARD:0019487,GARD:0019416,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0019487,GARD:0010294,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0019487,GARD:0019415,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0019487,GARD:0012232,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0019487,GARD:0017516,Rare neurologic disease +GARD:0018718,GARD:0022531,GARD:0019487,GARD:0010294,Rare genetic disease +GARD:0018718,GARD:0022531,GARD:0019487,GARD:0017516,Rare genetic disease +GARD:0018718,GARD:0022524,GARD:0020286,GARD:0017689,Rare neurologic disease +GARD:0018718,GARD:0022531,GARD:0020286,GARD:0017516,Rare genetic disease +GARD:0018718,GARD:0022531,GARD:0020286,GARD:0019413,Rare genetic disease +GARD:0018718,GARD:0022524,GARD:0019487,GARD:0012234,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0020286,GARD:0017314,Rare neurologic disease +GARD:0018718,GARD:0022531,GARD:0019487,GARD:0021719,Rare genetic disease +GARD:0018718,GARD:0022524,GARD:0020286,GARD:0010294,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0020286,GARD:0017516,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0019487,GARD:0019414,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0020286,GARD:0019412,Rare neurologic disease +GARD:0018718,GARD:0022524,GARD:0020286,GARD:0012234,Rare neurologic disease +GARD:0018718,GARD:0022531,GARD:0020286,GARD:0021719,Rare genetic disease +GARD:0018718,GARD:0022531,GARD:0019487,GARD:0017314,Rare genetic disease +GARD:0018718,GARD:0022531,GARD:0020286,GARD:0019412,Rare genetic disease +GARD:0018718,GARD:0022531,GARD:0019487,GARD:0019416,Rare genetic disease +GARD:0018718,GARD:0022531,GARD:0019487,GARD:0019415,Rare genetic disease +GARD:0018718,GARD:0022531,GARD:0020286,GARD:0010294,Rare genetic disease +GARD:0018718,GARD:0022524,GARD:0020286,GARD:0019414,Rare neurologic disease +GARD:0018718,GARD:0022531,GARD:0019487,GARD:0004954,Rare genetic disease +GARD:0018719,GARD:0022531,GARD:0020521,,Rare genetic disease +GARD:0018719,GARD:0022508,GARD:0020756,,Rare inborn errors of metabolism +GARD:0018719,GARD:0022536,GARD:0020521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018719,GARD:0022531,GARD:0020756,,Rare genetic disease +GARD:0018719,GARD:0022515,GARD:0020521,,Rare cardiac disease +GARD:0018720,GARD:0022524,GARD:0020997,,Rare neurologic disease +GARD:0018720,GARD:0022513,GARD:0020997,,Rare developmental defect during embryogenesis +GARD:0018721,GARD:0022524,GARD:0020340,GARD:0010541,Rare neurologic disease +GARD:0018721,GARD:0022524,GARD:0020340,GARD:0008722,Rare neurologic disease +GARD:0018721,GARD:0022531,GARD:0020340,GARD:0008721,Rare genetic disease +GARD:0018721,GARD:0022531,GARD:0020340,GARD:0008553,Rare genetic disease +GARD:0018721,GARD:0022524,GARD:0020340,GARD:0008553,Rare neurologic disease +GARD:0018721,GARD:0022524,GARD:0020340,GARD:0008721,Rare neurologic disease +GARD:0018721,GARD:0022531,GARD:0020340,GARD:0010541,Rare genetic disease +GARD:0018721,GARD:0022531,GARD:0020340,GARD:0008722,Rare genetic disease +GARD:0018722,GARD:0022527,GARD:0005828,,Rare circulatory system disease +GARD:0018722,GARD:0022519,GARD:0005828,,Rare surgical cardiac disease +GARD:0018722,GARD:0022513,GARD:0005828,,Rare developmental defect during embryogenesis +GARD:0018723,GARD:0022513,GARD:0005828,,Rare developmental defect during embryogenesis +GARD:0018723,GARD:0022527,GARD:0005828,,Rare circulatory system disease +GARD:0018723,GARD:0022519,GARD:0005828,,Rare surgical cardiac disease +GARD:0018724,GARD:0022519,GARD:0019094,,Rare surgical cardiac disease +GARD:0018724,GARD:0022513,GARD:0019094,,Rare developmental defect during embryogenesis +GARD:0018725,GARD:0022513,GARD:0019269,,Rare developmental defect during embryogenesis +GARD:0018725,GARD:0022519,GARD:0019269,,Rare surgical cardiac disease +GARD:0018726,GARD:0022531,GARD:0016822,GARD:0004833,Rare genetic disease +GARD:0018726,GARD:0022531,GARD:0016822,GARD:0003049,Rare genetic disease +GARD:0018726,GARD:0022511,GARD:0016822,GARD:0004833,Rare bone disease +GARD:0018726,GARD:0022517,GARD:0020248,GARD:0004834,Rare respiratory disease +GARD:0018726,GARD:0022531,GARD:0016822,GARD:0017637,Rare genetic disease +GARD:0018726,GARD:0022513,GARD:0016822,GARD:0000359,Rare developmental defect during embryogenesis +GARD:0018726,GARD:0022517,GARD:0020248,GARD:0001301,Rare respiratory disease +GARD:0018726,GARD:0022511,GARD:0016822,GARD:0017919,Rare bone disease +GARD:0018726,GARD:0022513,GARD:0016822,GARD:0004835,Rare developmental defect during embryogenesis +GARD:0018726,GARD:0022511,GARD:0016822,GARD:0000359,Rare bone disease +GARD:0018726,GARD:0022517,GARD:0020248,GARD:0017637,Rare respiratory disease +GARD:0018726,GARD:0022513,GARD:0016822,GARD:0001301,Rare developmental defect during embryogenesis +GARD:0018726,GARD:0022511,GARD:0016822,GARD:0001301,Rare bone disease +GARD:0018726,GARD:0022531,GARD:0016822,GARD:0004834,Rare genetic disease +GARD:0018726,GARD:0022531,GARD:0016822,GARD:0000359,Rare genetic disease +GARD:0018726,GARD:0022513,GARD:0016822,GARD:0004832,Rare developmental defect during embryogenesis +GARD:0018726,GARD:0022513,GARD:0016822,GARD:0004834,Rare developmental defect during embryogenesis +GARD:0018726,GARD:0022531,GARD:0016822,GARD:0017919,Rare genetic disease +GARD:0018726,GARD:0022511,GARD:0016822,GARD:0003049,Rare bone disease +GARD:0018726,GARD:0022511,GARD:0016822,GARD:0004832,Rare bone disease +GARD:0018726,GARD:0022531,GARD:0016822,GARD:0004835,Rare genetic disease +GARD:0018726,GARD:0022517,GARD:0020248,GARD:0004833,Rare respiratory disease +GARD:0018726,GARD:0022511,GARD:0016822,GARD:0017637,Rare bone disease +GARD:0018726,GARD:0022517,GARD:0020248,GARD:0017919,Rare respiratory disease +GARD:0018726,GARD:0022517,GARD:0020248,GARD:0003049,Rare respiratory disease +GARD:0018726,GARD:0022511,GARD:0016822,GARD:0004835,Rare bone disease +GARD:0018726,GARD:0022513,GARD:0016822,GARD:0004833,Rare developmental defect during embryogenesis +GARD:0018726,GARD:0022511,GARD:0016822,GARD:0004834,Rare bone disease +GARD:0018726,GARD:0022513,GARD:0016822,GARD:0003049,Rare developmental defect during embryogenesis +GARD:0018726,GARD:0022517,GARD:0020248,GARD:0000359,Rare respiratory disease +GARD:0018726,GARD:0022531,GARD:0016822,GARD:0004832,Rare genetic disease +GARD:0018726,GARD:0022513,GARD:0016822,GARD:0017637,Rare developmental defect during embryogenesis +GARD:0018726,GARD:0022517,GARD:0020248,GARD:0004835,Rare respiratory disease +GARD:0018726,GARD:0022531,GARD:0016822,GARD:0001301,Rare genetic disease +GARD:0018726,GARD:0022517,GARD:0020248,GARD:0004832,Rare respiratory disease +GARD:0018726,GARD:0022513,GARD:0016822,GARD:0017919,Rare developmental defect during embryogenesis +GARD:0018727,GARD:0022531,GARD:0019197,,Rare genetic disease +GARD:0018727,GARD:0022511,GARD:0019197,,Rare bone disease +GARD:0018727,GARD:0022513,GARD:0019197,,Rare developmental defect during embryogenesis +GARD:0018728,GARD:0022524,GARD:0019438,,Rare neurologic disease +GARD:0018729,GARD:0022531,GARD:0020830,,Rare genetic disease +GARD:0018729,GARD:0022513,GARD:0020830,,Rare developmental defect during embryogenesis +GARD:0018729,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0018729,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0018730,GARD:0022513,GARD:0020825,,Rare developmental defect during embryogenesis +GARD:0018730,GARD:0022531,GARD:0020825,,Rare genetic disease +GARD:0018731,GARD:0022513,GARD:0020827,,Rare developmental defect during embryogenesis +GARD:0018731,GARD:0022531,GARD:0020827,,Rare genetic disease +GARD:0018732,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0018732,GARD:0022513,GARD:0020813,,Rare developmental defect during embryogenesis +GARD:0018732,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0018732,GARD:0022531,GARD:0020813,,Rare genetic disease +GARD:0018732,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0018732,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0018732,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0018732,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0018733,GARD:0022531,GARD:0020912,,Rare genetic disease +GARD:0018733,GARD:0022513,GARD:0020912,,Rare developmental defect during embryogenesis +GARD:0018734,GARD:0022513,GARD:0020338,,Rare developmental defect during embryogenesis +GARD:0018734,GARD:0022524,GARD:0020338,,Rare neurologic disease +GARD:0018735,GARD:0022513,GARD:0019558,,Rare developmental defect during embryogenesis +GARD:0018735,GARD:0022531,GARD:0021969,,Rare genetic disease +GARD:0018735,GARD:0022519,GARD:0019558,,Rare surgical cardiac disease +GARD:0018736,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0018736,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0018737,GARD:0022513,GARD:0020881,,Rare developmental defect during embryogenesis +GARD:0018737,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0018737,GARD:0022531,GARD:0020881,,Rare genetic disease +GARD:0018737,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0018738,GARD:0022531,GARD:0020883,,Rare genetic disease +GARD:0018738,GARD:0022513,GARD:0020883,,Rare developmental defect during embryogenesis +GARD:0018739,GARD:0022531,GARD:0020884,,Rare genetic disease +GARD:0018739,GARD:0022513,GARD:0020884,,Rare developmental defect during embryogenesis +GARD:0018739,GARD:0022531,GARD:0019504,,Rare genetic disease +GARD:0018739,GARD:0022520,GARD:0019504,,Rare ophthalmic disorder +GARD:0018739,GARD:0022513,GARD:0019504,,Rare developmental defect during embryogenesis +GARD:0018740,GARD:0022520,GARD:0017423,,Rare ophthalmic disorder +GARD:0018740,GARD:0022513,GARD:0017423,,Rare developmental defect during embryogenesis +GARD:0018740,GARD:0022524,GARD:0017423,,Rare neurologic disease +GARD:0018740,GARD:0022531,GARD:0017423,,Rare genetic disease +GARD:0018741,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0018741,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0018742,GARD:0022513,GARD:0020888,,Rare developmental defect during embryogenesis +GARD:0018742,GARD:0022531,GARD:0020888,,Rare genetic disease +GARD:0018743,GARD:0022531,GARD:0020889,,Rare genetic disease +GARD:0018743,GARD:0022513,GARD:0020889,,Rare developmental defect during embryogenesis +GARD:0018744,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0018744,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0018745,GARD:0022513,GARD:0020863,,Rare developmental defect during embryogenesis +GARD:0018745,GARD:0022531,GARD:0020863,,Rare genetic disease +GARD:0018746,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0018746,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0018746,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0018747,GARD:0022521,GARD:0021476,,Rare endocrine disease +GARD:0018747,GARD:0022531,GARD:0021476,,Rare genetic disease +GARD:0018747,GARD:0022513,GARD:0020913,,Rare developmental defect during embryogenesis +GARD:0018747,GARD:0022532,GARD:0021476,,Rare urogenital disease +GARD:0018747,GARD:0022531,GARD:0019408,,Rare genetic disease +GARD:0018747,GARD:0022513,GARD:0021476,,Rare developmental defect during embryogenesis +GARD:0018747,GARD:0022529,GARD:0019445,,Rare infertility +GARD:0018747,GARD:0022531,GARD:0019445,,Rare genetic disease +GARD:0018747,GARD:0022531,GARD:0020913,,Rare genetic disease +GARD:0018747,GARD:0022514,GARD:0019408,,Rare gynecologic or obstetric disease +GARD:0018748,GARD:0022531,GARD:0021540,GARD:0009517,Rare genetic disease +GARD:0018748,GARD:0022531,GARD:0021540,GARD:0019375,Rare genetic disease +GARD:0018748,GARD:0022513,GARD:0019217,GARD:0019375,Rare developmental defect during embryogenesis +GARD:0018748,GARD:0022536,GARD:0019217,GARD:0019375,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018748,GARD:0022536,GARD:0019217,GARD:0009517,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018748,GARD:0022513,GARD:0019217,GARD:0009517,Rare developmental defect during embryogenesis +GARD:0018748,GARD:0022512,GARD:0019217,GARD:0019375,Rare renal disease +GARD:0018748,GARD:0022512,GARD:0019217,GARD:0009517,Rare renal disease +GARD:0018749,GARD:0022524,GARD:0019985,GARD:0010667,Rare neurologic disease +GARD:0018749,GARD:0022524,GARD:0019985,GARD:0019243,Rare neurologic disease +GARD:0018749,GARD:0022524,GARD:0019985,GARD:0017905,Rare neurologic disease +GARD:0018749,GARD:0022531,GARD:0019985,GARD:0017694,Rare genetic disease +GARD:0018749,GARD:0022524,GARD:0019985,GARD:0017819,Rare neurologic disease +GARD:0018749,GARD:0022524,GARD:0019985,GARD:0017693,Rare neurologic disease +GARD:0018749,GARD:0022524,GARD:0019985,GARD:0010536,Rare neurologic disease +GARD:0018749,GARD:0022531,GARD:0019985,GARD:0017819,Rare genetic disease +GARD:0018749,GARD:0022531,GARD:0019985,GARD:0010537,Rare genetic disease +GARD:0018749,GARD:0022531,GARD:0019985,GARD:0010667,Rare genetic disease +GARD:0018749,GARD:0022531,GARD:0019985,GARD:0002028,Rare genetic disease +GARD:0018749,GARD:0022524,GARD:0019985,GARD:0010537,Rare neurologic disease +GARD:0018749,GARD:0022531,GARD:0019985,GARD:0010536,Rare genetic disease +GARD:0018749,GARD:0022524,GARD:0019985,GARD:0017694,Rare neurologic disease +GARD:0018749,GARD:0022524,GARD:0019985,GARD:0007008,Rare neurologic disease +GARD:0018749,GARD:0022531,GARD:0019985,GARD:0017905,Rare genetic disease +GARD:0018749,GARD:0022531,GARD:0019985,GARD:0007008,Rare genetic disease +GARD:0018749,GARD:0022524,GARD:0019985,GARD:0002028,Rare neurologic disease +GARD:0018749,GARD:0022531,GARD:0019985,GARD:0010138,Rare genetic disease +GARD:0018749,GARD:0022524,GARD:0019985,GARD:0010138,Rare neurologic disease +GARD:0018749,GARD:0022531,GARD:0019985,GARD:0017693,Rare genetic disease +GARD:0018749,GARD:0022531,GARD:0019985,GARD:0019243,Rare genetic disease +GARD:0018750,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0018750,GARD:0022533,GARD:0021594,,Rare disorder due to toxic effects +GARD:0018750,GARD:0022513,GARD:0021594,,Rare developmental defect during embryogenesis +GARD:0018750,GARD:0022505,GARD:0021594,,Rare teratologic disease +GARD:0018750,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0018750,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0018751,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0018751,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0018751,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0018751,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0018751,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0018751,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0018752,GARD:0022524,GARD:0019434,,Rare neurologic disease +GARD:0018752,GARD:0022524,GARD:0020090,,Rare neurologic disease +GARD:0018753,GARD:0022513,GARD:0006333,,Rare developmental defect during embryogenesis +GARD:0018753,GARD:0022524,GARD:0006333,,Rare neurologic disease +GARD:0018753,GARD:0022531,GARD:0006333,,Rare genetic disease +GARD:0018754,GARD:0022507,GARD:0022507,GARD:0017091,Rare maxillo-facial surgical disease +GARD:0018754,GARD:0022507,GARD:0022507,GARD:0016976,Rare maxillo-facial surgical disease +GARD:0018754,GARD:0022513,GARD:0019972,GARD:0016976,Rare developmental defect during embryogenesis +GARD:0018754,GARD:0022513,GARD:0019972,GARD:0017091,Rare developmental defect during embryogenesis +GARD:0018754,GARD:0022513,GARD:0019972,GARD:0017092,Rare developmental defect during embryogenesis +GARD:0018754,GARD:0022507,GARD:0022507,GARD:0017092,Rare maxillo-facial surgical disease +GARD:0018755,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0018755,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0018755,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0018755,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0018755,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0018755,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0018755,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0018756,GARD:0022507,GARD:0019965,,Rare maxillo-facial surgical disease +GARD:0018756,GARD:0022513,GARD:0019965,,Rare developmental defect during embryogenesis +GARD:0018757,GARD:0022509,GARD:0020046,GARD:0007252,Rare infectious disease +GARD:0018757,GARD:0022509,GARD:0020046,GARD:0003321,Rare infectious disease +GARD:0018757,GARD:0022509,GARD:0020046,GARD:0008216,Rare infectious disease +GARD:0018757,GARD:0022509,GARD:0020046,GARD:0003283,Rare infectious disease +GARD:0018757,GARD:0022509,GARD:0020046,GARD:0011908,Rare infectious disease +GARD:0018757,GARD:0022509,GARD:0020046,GARD:0006286,Rare infectious disease +GARD:0018758,GARD:0022527,GARD:0019560,,Rare circulatory system disease +GARD:0018758,GARD:0022513,GARD:0019560,,Rare developmental defect during embryogenesis +GARD:0018759,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0018759,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0018759,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0018759,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0018760,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0018760,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0018761,GARD:0022531,GARD:0022024,GARD:0019182,Rare genetic disease +GARD:0018761,GARD:0022511,GARD:0022024,GARD:0019182,Rare bone disease +GARD:0018761,GARD:0022511,GARD:0022024,GARD:0008707,Rare bone disease +GARD:0018761,GARD:0022511,GARD:0022024,GARD:0000225,Rare bone disease +GARD:0018761,GARD:0022531,GARD:0022024,GARD:0008659,Rare genetic disease +GARD:0018761,GARD:0022511,GARD:0022024,GARD:0008659,Rare bone disease +GARD:0018761,GARD:0022531,GARD:0022024,GARD:0008707,Rare genetic disease +GARD:0018761,GARD:0022513,GARD:0022024,GARD:0019182,Rare developmental defect during embryogenesis +GARD:0018761,GARD:0022531,GARD:0022024,GARD:0000225,Rare genetic disease +GARD:0018761,GARD:0022513,GARD:0022024,GARD:0000225,Rare developmental defect during embryogenesis +GARD:0018761,GARD:0022513,GARD:0022024,GARD:0008659,Rare developmental defect during embryogenesis +GARD:0018761,GARD:0022513,GARD:0022024,GARD:0008707,Rare developmental defect during embryogenesis +GARD:0018762,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0018762,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0018762,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0018763,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0018763,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018763,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0018763,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0018763,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018763,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018764,GARD:0022532,GARD:0019411,,Rare urogenital disease +GARD:0018764,GARD:0022521,GARD:0019411,,Rare endocrine disease +GARD:0018764,GARD:0022531,GARD:0019411,,Rare genetic disease +GARD:0018764,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0018764,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0018764,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018764,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018764,GARD:0022513,GARD:0019411,,Rare developmental defect during embryogenesis +GARD:0018764,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018765,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0018765,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0018765,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0018765,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0018765,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0018765,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0018766,GARD:0022513,GARD:0022092,,Rare developmental defect during embryogenesis +GARD:0018766,GARD:0022531,GARD:0022173,,Rare genetic disease +GARD:0018766,GARD:0022510,GARD:0022387,,Rare skin disease +GARD:0018766,GARD:0022531,GARD:0022387,,Rare genetic disease +GARD:0018766,GARD:0022520,GARD:0022092,,Rare ophthalmic disorder +GARD:0018766,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0018767,GARD:0022531,GARD:0020219,,Rare genetic disease +GARD:0018767,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018767,GARD:0022521,GARD:0020219,,Rare endocrine disease +GARD:0018767,GARD:0022529,GARD:0020219,,Rare infertility +GARD:0018767,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018767,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018767,GARD:0022514,GARD:0020219,,Rare gynecologic or obstetric disease +GARD:0018768,GARD:0022531,GARD:0021297,GARD:0017764,Rare genetic disease +GARD:0018768,GARD:0022531,GARD:0021297,GARD:0021298,Rare genetic disease +GARD:0018768,GARD:0022510,GARD:0021297,GARD:0003103,Rare skin disease +GARD:0018768,GARD:0022510,GARD:0021297,GARD:0016542,Rare skin disease +GARD:0018768,GARD:0022531,GARD:0021297,GARD:0016542,Rare genetic disease +GARD:0018768,GARD:0022510,GARD:0021297,GARD:0021298,Rare skin disease +GARD:0018768,GARD:0022510,GARD:0021297,GARD:0004439,Rare skin disease +GARD:0018768,GARD:0022531,GARD:0021297,GARD:0004439,Rare genetic disease +GARD:0018768,GARD:0022531,GARD:0021297,GARD:0003103,Rare genetic disease +GARD:0018768,GARD:0022510,GARD:0021297,GARD:0017764,Rare skin disease +GARD:0018769,GARD:0022513,GARD:0022296,GARD:0007220,Rare developmental defect during embryogenesis +GARD:0018769,GARD:0022510,GARD:0022296,GARD:0003622,Rare skin disease +GARD:0018769,GARD:0022527,GARD:0022296,GARD:0003622,Rare circulatory system disease +GARD:0018769,GARD:0022527,GARD:0022296,GARD:0002462,Rare circulatory system disease +GARD:0018769,GARD:0022531,GARD:0022296,GARD:0022307,Rare genetic disease +GARD:0018769,GARD:0022531,GARD:0022296,GARD:0003622,Rare genetic disease +GARD:0018769,GARD:0022527,GARD:0022296,GARD:0022307,Rare circulatory system disease +GARD:0018769,GARD:0022513,GARD:0022296,GARD:0003622,Rare developmental defect during embryogenesis +GARD:0018769,GARD:0022513,GARD:0022296,GARD:0022307,Rare developmental defect during embryogenesis +GARD:0018769,GARD:0022531,GARD:0022296,GARD:0007220,Rare genetic disease +GARD:0018769,GARD:0022510,GARD:0022296,GARD:0007220,Rare skin disease +GARD:0018769,GARD:0022531,GARD:0022296,GARD:0002462,Rare genetic disease +GARD:0018769,GARD:0022510,GARD:0022296,GARD:0002462,Rare skin disease +GARD:0018769,GARD:0022513,GARD:0022296,GARD:0002462,Rare developmental defect during embryogenesis +GARD:0018769,GARD:0022527,GARD:0022296,GARD:0007220,Rare circulatory system disease +GARD:0018769,GARD:0022510,GARD:0022296,GARD:0022307,Rare skin disease +GARD:0018770,GARD:0022535,GARD:0021064,,Rare neoplastic disease +GARD:0018770,GARD:0022535,GARD:0019794,,Rare neoplastic disease +GARD:0018770,GARD:0022522,GARD:0021064,,Rare hematologic disease +GARD:0018770,GARD:0022517,GARD:0019794,,Rare respiratory disease +GARD:0018770,GARD:0022536,GARD:0021064,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018771,GARD:0022531,GARD:0020546,GARD:0021322,Rare genetic disease +GARD:0018771,GARD:0022531,GARD:0020546,GARD:0018028,Rare genetic disease +GARD:0018771,GARD:0022508,GARD:0020546,GARD:0018028,Rare inborn errors of metabolism +GARD:0018771,GARD:0022531,GARD:0020546,GARD:0021520,Rare genetic disease +GARD:0018771,GARD:0022531,GARD:0020546,GARD:0017865,Rare genetic disease +GARD:0018771,GARD:0022531,GARD:0020546,GARD:0017723,Rare genetic disease +GARD:0018771,GARD:0022508,GARD:0020546,GARD:0022192,Rare inborn errors of metabolism +GARD:0018771,GARD:0022531,GARD:0020546,GARD:0020760,Rare genetic disease +GARD:0018771,GARD:0022531,GARD:0020546,GARD:0018814,Rare genetic disease +GARD:0018771,GARD:0022508,GARD:0020546,GARD:0010423,Rare inborn errors of metabolism +GARD:0018771,GARD:0022508,GARD:0020546,GARD:0017616,Rare inborn errors of metabolism +GARD:0018771,GARD:0022531,GARD:0020546,GARD:0006877,Rare genetic disease +GARD:0018771,GARD:0022508,GARD:0020546,GARD:0021322,Rare inborn errors of metabolism +GARD:0018771,GARD:0022508,GARD:0020546,GARD:0006877,Rare inborn errors of metabolism +GARD:0018771,GARD:0022531,GARD:0020546,GARD:0022192,Rare genetic disease +GARD:0018771,GARD:0022531,GARD:0020546,GARD:0017616,Rare genetic disease +GARD:0018771,GARD:0022531,GARD:0020546,GARD:0010423,Rare genetic disease +GARD:0018771,GARD:0022508,GARD:0020546,GARD:0017095,Rare inborn errors of metabolism +GARD:0018771,GARD:0022508,GARD:0020546,GARD:0017865,Rare inborn errors of metabolism +GARD:0018771,GARD:0022508,GARD:0020546,GARD:0016569,Rare inborn errors of metabolism +GARD:0018771,GARD:0022531,GARD:0020546,GARD:0017095,Rare genetic disease +GARD:0018771,GARD:0022531,GARD:0020546,GARD:0016569,Rare genetic disease +GARD:0018771,GARD:0022508,GARD:0020546,GARD:0018814,Rare inborn errors of metabolism +GARD:0018771,GARD:0022531,GARD:0020546,GARD:0010522,Rare genetic disease +GARD:0018771,GARD:0022508,GARD:0020546,GARD:0020760,Rare inborn errors of metabolism +GARD:0018771,GARD:0022508,GARD:0020546,GARD:0017723,Rare inborn errors of metabolism +GARD:0018771,GARD:0022508,GARD:0020546,GARD:0021520,Rare inborn errors of metabolism +GARD:0018771,GARD:0022508,GARD:0020546,GARD:0010522,Rare inborn errors of metabolism +GARD:0018772,GARD:0022517,GARD:0020249,GARD:0021093,Rare respiratory disease +GARD:0018772,GARD:0022517,GARD:0020249,GARD:0021097,Rare respiratory disease +GARD:0018772,GARD:0022517,GARD:0020249,GARD:0021096,Rare respiratory disease +GARD:0018772,GARD:0022518,GARD:0019867,GARD:0021095,Rare surgical thoracic disease +GARD:0018772,GARD:0022518,GARD:0019867,GARD:0021096,Rare surgical thoracic disease +GARD:0018772,GARD:0022513,GARD:0019867,GARD:0021093,Rare developmental defect during embryogenesis +GARD:0018772,GARD:0022518,GARD:0019867,GARD:0021097,Rare surgical thoracic disease +GARD:0018772,GARD:0022518,GARD:0019867,GARD:0021093,Rare surgical thoracic disease +GARD:0018772,GARD:0022517,GARD:0020249,GARD:0021094,Rare respiratory disease +GARD:0018772,GARD:0022513,GARD:0019867,GARD:0021095,Rare developmental defect during embryogenesis +GARD:0018772,GARD:0022513,GARD:0019867,GARD:0021096,Rare developmental defect during embryogenesis +GARD:0018772,GARD:0022513,GARD:0019867,GARD:0021097,Rare developmental defect during embryogenesis +GARD:0018772,GARD:0022513,GARD:0019867,GARD:0021094,Rare developmental defect during embryogenesis +GARD:0018772,GARD:0022517,GARD:0020249,GARD:0021095,Rare respiratory disease +GARD:0018772,GARD:0022518,GARD:0019867,GARD:0021094,Rare surgical thoracic disease +GARD:0018773,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0018773,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0018773,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0018774,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0018774,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018774,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0018774,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0018774,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018774,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018774,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0018775,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0018776,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0018776,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0018776,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0018776,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0018776,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0018777,GARD:0022512,GARD:0019228,,Rare renal disease +GARD:0018777,GARD:0022531,GARD:0019986,,Rare genetic disease +GARD:0018777,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018777,GARD:0022531,GARD:0019228,,Rare genetic disease +GARD:0018778,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0018778,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0018778,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0018779,GARD:0022519,GARD:0019094,GARD:0019668,Rare surgical cardiac disease +GARD:0018779,GARD:0022519,GARD:0019094,GARD:0019667,Rare surgical cardiac disease +GARD:0018779,GARD:0022519,GARD:0019094,GARD:0019666,Rare surgical cardiac disease +GARD:0018779,GARD:0022513,GARD:0019094,GARD:0019668,Rare developmental defect during embryogenesis +GARD:0018779,GARD:0022513,GARD:0019094,GARD:0019667,Rare developmental defect during embryogenesis +GARD:0018779,GARD:0022513,GARD:0019094,GARD:0019666,Rare developmental defect during embryogenesis +GARD:0018780,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0018780,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0018780,GARD:0022531,GARD:0020290,,Rare genetic disease +GARD:0018781,GARD:0022510,GARD:0020545,,Rare skin disease +GARD:0018781,GARD:0022531,GARD:0020545,,Rare genetic disease +GARD:0018782,GARD:0022531,GARD:0021467,,Rare genetic disease +GARD:0018782,GARD:0022514,GARD:0020187,,Rare gynecologic or obstetric disease +GARD:0018782,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018782,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0018782,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0018782,GARD:0022513,GARD:0021467,,Rare developmental defect during embryogenesis +GARD:0018782,GARD:0022521,GARD:0021467,,Rare endocrine disease +GARD:0018782,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0018782,GARD:0022532,GARD:0021467,,Rare urogenital disease +GARD:0018783,GARD:0022532,GARD:0019147,GARD:0021467,Rare urogenital disease +GARD:0018783,GARD:0022532,GARD:0019147,GARD:0019409,Rare urogenital disease +GARD:0018783,GARD:0022521,GARD:0019147,GARD:0021467,Rare endocrine disease +GARD:0018783,GARD:0022513,GARD:0019147,GARD:0021467,Rare developmental defect during embryogenesis +GARD:0018783,GARD:0022521,GARD:0019147,GARD:0019409,Rare endocrine disease +GARD:0018783,GARD:0022521,GARD:0019147,GARD:0021463,Rare endocrine disease +GARD:0018783,GARD:0022513,GARD:0019147,GARD:0021463,Rare developmental defect during embryogenesis +GARD:0018783,GARD:0022513,GARD:0019147,GARD:0019409,Rare developmental defect during embryogenesis +GARD:0018783,GARD:0022532,GARD:0019147,GARD:0021463,Rare urogenital disease +GARD:0018784,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0018784,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0018784,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0018785,GARD:0022513,GARD:0021541,GARD:0019276,Rare developmental defect during embryogenesis +GARD:0018785,GARD:0022519,GARD:0021541,GARD:0021979,Rare surgical cardiac disease +GARD:0018785,GARD:0022527,GARD:0021541,GARD:0019282,Rare circulatory system disease +GARD:0018785,GARD:0022519,GARD:0021541,GARD:0019275,Rare surgical cardiac disease +GARD:0018785,GARD:0022519,GARD:0021541,GARD:0019277,Rare surgical cardiac disease +GARD:0018785,GARD:0022513,GARD:0021541,GARD:0019275,Rare developmental defect during embryogenesis +GARD:0018785,GARD:0022513,GARD:0021541,GARD:0019277,Rare developmental defect during embryogenesis +GARD:0018785,GARD:0022527,GARD:0021541,GARD:0021979,Rare circulatory system disease +GARD:0018785,GARD:0022527,GARD:0021541,GARD:0019276,Rare circulatory system disease +GARD:0018785,GARD:0022513,GARD:0021541,GARD:0019282,Rare developmental defect during embryogenesis +GARD:0018785,GARD:0022527,GARD:0021541,GARD:0019275,Rare circulatory system disease +GARD:0018785,GARD:0022519,GARD:0021541,GARD:0019282,Rare surgical cardiac disease +GARD:0018785,GARD:0022513,GARD:0021541,GARD:0021979,Rare developmental defect during embryogenesis +GARD:0018785,GARD:0022527,GARD:0021541,GARD:0019277,Rare circulatory system disease +GARD:0018785,GARD:0022519,GARD:0021541,GARD:0019276,Rare surgical cardiac disease +GARD:0018786,GARD:0022527,GARD:0019552,GARD:0019260,Rare circulatory system disease +GARD:0018786,GARD:0022527,GARD:0019552,GARD:0019776,Rare circulatory system disease +GARD:0018786,GARD:0022519,GARD:0019557,GARD:0019260,Rare surgical cardiac disease +GARD:0018786,GARD:0022519,GARD:0019552,GARD:0019776,Rare surgical cardiac disease +GARD:0018786,GARD:0022519,GARD:0019552,GARD:0019260,Rare surgical cardiac disease +GARD:0018786,GARD:0022513,GARD:0019552,GARD:0019776,Rare developmental defect during embryogenesis +GARD:0018786,GARD:0022527,GARD:0019557,GARD:0019260,Rare circulatory system disease +GARD:0018786,GARD:0022513,GARD:0019557,GARD:0019260,Rare developmental defect during embryogenesis +GARD:0018786,GARD:0022513,GARD:0019557,GARD:0019776,Rare developmental defect during embryogenesis +GARD:0018786,GARD:0022527,GARD:0019557,GARD:0019776,Rare circulatory system disease +GARD:0018786,GARD:0022519,GARD:0019557,GARD:0019776,Rare surgical cardiac disease +GARD:0018786,GARD:0022513,GARD:0019552,GARD:0019260,Rare developmental defect during embryogenesis +GARD:0018787,GARD:0022522,GARD:0018873,,Rare hematologic disease +GARD:0018787,GARD:0022510,GARD:0021114,,Rare skin disease +GARD:0018787,GARD:0022531,GARD:0021114,,Rare genetic disease +GARD:0018787,GARD:0022531,GARD:0018873,,Rare genetic disease +GARD:0018788,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0018788,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0018788,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0018789,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0018789,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0018789,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0018789,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0018789,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0018789,GARD:0022512,GARD:0007552,,Rare renal disease +GARD:0018789,GARD:0022531,GARD:0007552,,Rare genetic disease +GARD:0018790,GARD:0022531,GARD:0018885,GARD:0013160,Rare genetic disease +GARD:0018790,GARD:0022531,GARD:0018885,GARD:0013319,Rare genetic disease +GARD:0018790,GARD:0022508,GARD:0018885,GARD:0013319,Rare inborn errors of metabolism +GARD:0018790,GARD:0022508,GARD:0018885,GARD:0013160,Rare inborn errors of metabolism +GARD:0018791,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0018791,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018791,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0018791,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018791,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018792,GARD:0022531,GARD:0020862,,Rare genetic disease +GARD:0018792,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0018792,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0018792,GARD:0022513,GARD:0020862,,Rare developmental defect during embryogenesis +GARD:0018793,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0018794,GARD:0022531,GARD:0020887,,Rare genetic disease +GARD:0018794,GARD:0022513,GARD:0020887,,Rare developmental defect during embryogenesis +GARD:0018795,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0018796,GARD:0022513,GARD:0019865,GARD:0020974,Rare developmental defect during embryogenesis +GARD:0018796,GARD:0022531,GARD:0021003,GARD:0017268,Rare genetic disease +GARD:0018796,GARD:0022513,GARD:0019865,GARD:0017268,Rare developmental defect during embryogenesis +GARD:0018796,GARD:0022524,GARD:0019865,GARD:0017268,Rare neurologic disease +GARD:0018796,GARD:0022524,GARD:0019865,GARD:0020974,Rare neurologic disease +GARD:0018796,GARD:0022531,GARD:0021003,GARD:0020974,Rare genetic disease +GARD:0018797,GARD:0022536,GARD:0022063,GARD:0021554,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018797,GARD:0022535,GARD:0019401,GARD:0009325,Rare neoplastic disease +GARD:0018797,GARD:0022536,GARD:0022063,GARD:0009325,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018797,GARD:0022535,GARD:0019401,GARD:0021554,Rare neoplastic disease +GARD:0018798,GARD:0022519,GARD:0019557,GARD:0019632,Rare surgical cardiac disease +GARD:0018798,GARD:0022513,GARD:0019557,GARD:0019632,Rare developmental defect during embryogenesis +GARD:0018798,GARD:0022527,GARD:0019557,GARD:0019633,Rare circulatory system disease +GARD:0018798,GARD:0022519,GARD:0019557,GARD:0019633,Rare surgical cardiac disease +GARD:0018798,GARD:0022513,GARD:0019557,GARD:0019633,Rare developmental defect during embryogenesis +GARD:0018798,GARD:0022527,GARD:0019557,GARD:0019632,Rare circulatory system disease +GARD:0018799,GARD:0022522,GARD:0020678,,Rare hematologic disease +GARD:0018800,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0018801,GARD:0022531,GARD:0020231,GARD:0007731,Rare genetic disease +GARD:0018801,GARD:0022531,GARD:0020231,GARD:0002872,Rare genetic disease +GARD:0018801,GARD:0022521,GARD:0020231,GARD:0002872,Rare endocrine disease +GARD:0018801,GARD:0022521,GARD:0020231,GARD:0007731,Rare endocrine disease +GARD:0018801,GARD:0022521,GARD:0020231,GARD:0016539,Rare endocrine disease +GARD:0018801,GARD:0022531,GARD:0020231,GARD:0016539,Rare genetic disease +GARD:0018801,GARD:0022508,GARD:0020231,GARD:0016539,Rare inborn errors of metabolism +GARD:0018801,GARD:0022508,GARD:0020231,GARD:0002872,Rare inborn errors of metabolism +GARD:0018801,GARD:0022508,GARD:0020231,GARD:0007731,Rare inborn errors of metabolism +GARD:0018802,GARD:0022531,GARD:0020231,GARD:0000005,Rare genetic disease +GARD:0018802,GARD:0022531,GARD:0020231,GARD:0009683,Rare genetic disease +GARD:0018802,GARD:0022508,GARD:0020231,GARD:0009683,Rare inborn errors of metabolism +GARD:0018802,GARD:0022521,GARD:0020231,GARD:0009683,Rare endocrine disease +GARD:0018802,GARD:0022521,GARD:0020231,GARD:0000005,Rare endocrine disease +GARD:0018802,GARD:0022508,GARD:0020231,GARD:0000005,Rare inborn errors of metabolism +GARD:0018803,GARD:0022533,GARD:0021258,,Rare disorder due to toxic effects +GARD:0018804,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0018805,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0018806,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0018807,GARD:0022533,GARD:0021258,,Rare disorder due to toxic effects +GARD:0018808,GARD:0022510,GARD:0020744,,Rare skin disease +GARD:0018809,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0018809,GARD:0022524,GARD:0019386,,Rare neurologic disease +GARD:0018810,GARD:0022520,GARD:0022090,GARD:0019518,Rare ophthalmic disorder +GARD:0018810,GARD:0022520,GARD:0022090,GARD:0019519,Rare ophthalmic disorder +GARD:0018810,GARD:0022520,GARD:0022090,GARD:0019520,Rare ophthalmic disorder +GARD:0018810,GARD:0022520,GARD:0022090,GARD:0019521,Rare ophthalmic disorder +GARD:0018811,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0018812,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0018812,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018813,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0018813,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0018813,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0018813,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0018813,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017831,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017765,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017799,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0016950,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017456,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0022015,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017589,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0018006,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017999,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017831,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017454,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017799,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0010710,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017727,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017699,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017233,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0002542,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0012652,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017727,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0009951,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017699,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017171,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017453,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017827,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0022015,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017569,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0010992,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017775,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017999,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017425,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017487,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017759,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0012892,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0012893,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017453,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017759,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0004927,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017035,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017863,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0018006,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017966,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0003885,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017428,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017700,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0010992,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017765,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017456,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0002542,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0012892,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0016950,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017827,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017452,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017035,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017864,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0012652,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017856,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0012893,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017569,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0010593,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0016949,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0010593,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017700,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0003885,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017455,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017171,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017455,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017487,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017854,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0004927,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017589,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017854,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017856,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0010710,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017233,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017966,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017864,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017454,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017863,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0016949,Rare inborn errors of metabolism +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017232,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0009951,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017232,Rare genetic disease +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017428,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017775,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0018012,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0018012,Rare inborn errors of metabolism +GARD:0018814,GARD:0022531,GARD:0018771,GARD:0017452,Rare genetic disease +GARD:0018814,GARD:0022508,GARD:0018771,GARD:0017425,Rare inborn errors of metabolism +GARD:0018815,GARD:0022524,GARD:0018890,GARD:0000102,Rare neurologic disease +GARD:0018815,GARD:0022524,GARD:0018890,GARD:0022334,Rare neurologic disease +GARD:0018815,GARD:0022508,GARD:0018968,GARD:0022334,Rare inborn errors of metabolism +GARD:0018815,GARD:0022531,GARD:0018890,GARD:0013425,Rare genetic disease +GARD:0018815,GARD:0022531,GARD:0018968,GARD:0022334,Rare genetic disease +GARD:0018815,GARD:0022531,GARD:0018890,GARD:0000102,Rare genetic disease +GARD:0018815,GARD:0022531,GARD:0018890,GARD:0022334,Rare genetic disease +GARD:0018815,GARD:0022508,GARD:0018968,GARD:0013425,Rare inborn errors of metabolism +GARD:0018815,GARD:0022531,GARD:0018968,GARD:0013425,Rare genetic disease +GARD:0018815,GARD:0022508,GARD:0018968,GARD:0000102,Rare inborn errors of metabolism +GARD:0018815,GARD:0022531,GARD:0018968,GARD:0000102,Rare genetic disease +GARD:0018815,GARD:0022524,GARD:0018890,GARD:0013425,Rare neurologic disease +GARD:0018816,GARD:0022535,GARD:0021650,GARD:0005495,Rare neoplastic disease +GARD:0018816,GARD:0022535,GARD:0021650,GARD:0009665,Rare neoplastic disease +GARD:0018816,GARD:0022514,GARD:0021650,GARD:0005495,Rare gynecologic or obstetric disease +GARD:0018816,GARD:0022514,GARD:0021650,GARD:0019708,Rare gynecologic or obstetric disease +GARD:0018816,GARD:0022535,GARD:0021650,GARD:0019707,Rare neoplastic disease +GARD:0018816,GARD:0022514,GARD:0021650,GARD:0019707,Rare gynecologic or obstetric disease +GARD:0018816,GARD:0022514,GARD:0021650,GARD:0009665,Rare gynecologic or obstetric disease +GARD:0018816,GARD:0022535,GARD:0021650,GARD:0019708,Rare neoplastic disease +GARD:0018817,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0018818,GARD:0022531,GARD:0020041,GARD:0017269,Rare genetic disease +GARD:0018818,GARD:0022531,GARD:0022441,GARD:0017269,Rare genetic disease +GARD:0018818,GARD:0022531,GARD:0022441,GARD:0020980,Rare genetic disease +GARD:0018818,GARD:0022524,GARD:0019832,GARD:0017269,Rare neurologic disease +GARD:0018818,GARD:0022524,GARD:0020041,GARD:0017269,Rare neurologic disease +GARD:0018818,GARD:0022513,GARD:0019832,GARD:0017269,Rare developmental defect during embryogenesis +GARD:0018818,GARD:0022531,GARD:0020041,GARD:0020980,Rare genetic disease +GARD:0018818,GARD:0022524,GARD:0019832,GARD:0020980,Rare neurologic disease +GARD:0018818,GARD:0022513,GARD:0019832,GARD:0020980,Rare developmental defect during embryogenesis +GARD:0018818,GARD:0022513,GARD:0020041,GARD:0020980,Rare developmental defect during embryogenesis +GARD:0018818,GARD:0022513,GARD:0020041,GARD:0017269,Rare developmental defect during embryogenesis +GARD:0018818,GARD:0022524,GARD:0020041,GARD:0020980,Rare neurologic disease +GARD:0018819,GARD:0022509,GARD:0021239,,Rare infectious disease +GARD:0018820,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0018820,GARD:0022509,GARD:0021239,,Rare infectious disease +GARD:0018821,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0018821,GARD:0022509,GARD:0021239,,Rare infectious disease +GARD:0018822,GARD:0022535,GARD:0021757,,Rare neoplastic disease +GARD:0018822,GARD:0022516,GARD:0021757,,Rare gastroenterologic disease +GARD:0018823,GARD:0022531,GARD:0020281,,Rare genetic disease +GARD:0018823,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0018824,GARD:0022521,GARD:0020224,,Rare endocrine disease +GARD:0018825,GARD:0022532,GARD:0022532,,Rare urogenital disease +GARD:0018826,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0018827,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0018827,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0018827,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0018828,GARD:0022524,GARD:0021937,,Rare neurologic disease +GARD:0018829,GARD:0022533,GARD:0021258,,Rare disorder due to toxic effects +GARD:0018830,GARD:0022533,GARD:0021258,,Rare disorder due to toxic effects +GARD:0018831,GARD:0022515,GARD:0020537,,Rare cardiac disease +GARD:0018832,GARD:0022515,GARD:0020537,,Rare cardiac disease +GARD:0018833,GARD:0022510,GARD:0019028,GARD:0019022,Rare skin disease +GARD:0018833,GARD:0022510,GARD:0019028,GARD:0020406,Rare skin disease +GARD:0018833,GARD:0022510,GARD:0019028,GARD:0007354,Rare skin disease +GARD:0018834,GARD:0022510,GARD:0019028,,Rare skin disease +GARD:0018835,GARD:0022525,GARD:0021863,,Rare systemic or rheumatologic disease +GARD:0018835,GARD:0021079,GARD:0021863,,Rare systemic or rheumatological disease of childhood +GARD:0018835,GARD:0022527,GARD:0021863,,Rare circulatory system disease +GARD:0018835,GARD:0022524,GARD:0019818,,Rare neurologic disease +GARD:0018836,GARD:0022536,GARD:0020732,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018836,GARD:0022535,GARD:0020732,,Rare neoplastic disease +GARD:0018836,GARD:0022536,GARD:0005140,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018836,GARD:0022535,GARD:0005140,,Rare neoplastic disease +GARD:0018836,GARD:0022524,GARD:0020732,,Rare neurologic disease +GARD:0018837,GARD:0022525,GARD:0009128,,Rare systemic or rheumatologic disease +GARD:0018837,GARD:0022524,GARD:0009128,,Rare neurologic disease +GARD:0018838,GARD:0022522,GARD:0020678,,Rare hematologic disease +GARD:0018839,GARD:0022510,GARD:0000132,,Rare skin disease +GARD:0018840,GARD:0022531,GARD:0020088,,Rare genetic disease +GARD:0018840,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018840,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018840,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018840,GARD:0022524,GARD:0020088,,Rare neurologic disease +GARD:0018841,GARD:0022508,GARD:0020760,,Rare inborn errors of metabolism +GARD:0018841,GARD:0022531,GARD:0020760,,Rare genetic disease +GARD:0018841,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0018841,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0018842,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0018842,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0018842,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0018842,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0018842,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0018843,GARD:0022524,GARD:0020243,,Rare neurologic disease +GARD:0018844,GARD:0022527,GARD:0018881,GARD:0019983,Rare circulatory system disease +GARD:0018844,GARD:0022527,GARD:0018881,GARD:0019981,Rare circulatory system disease +GARD:0018844,GARD:0022527,GARD:0018881,GARD:0020698,Rare circulatory system disease +GARD:0018844,GARD:0022525,GARD:0022525,GARD:0019982,Rare systemic or rheumatologic disease +GARD:0018844,GARD:0022525,GARD:0022525,GARD:0019983,Rare systemic or rheumatologic disease +GARD:0018844,GARD:0022525,GARD:0022525,GARD:0020698,Rare systemic or rheumatologic disease +GARD:0018844,GARD:0022525,GARD:0022525,GARD:0021863,Rare systemic or rheumatologic disease +GARD:0018844,GARD:0022525,GARD:0022525,GARD:0019981,Rare systemic or rheumatologic disease +GARD:0018844,GARD:0022527,GARD:0018881,GARD:0021863,Rare circulatory system disease +GARD:0018844,GARD:0022527,GARD:0018881,GARD:0019982,Rare circulatory system disease +GARD:0018845,GARD:0022535,GARD:0019795,,Rare neoplastic disease +GARD:0018845,GARD:0022520,GARD:0019795,,Rare ophthalmic disorder +GARD:0018846,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0018846,GARD:0022524,GARD:0019096,,Rare neurologic disease +GARD:0018846,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0018847,GARD:0022506,GARD:0021257,,Rare hepatic disease +GARD:0018847,GARD:0022536,GARD:0021257,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018847,GARD:0022535,GARD:0021257,,Rare neoplastic disease +GARD:0018848,GARD:0022509,GARD:0020046,,Rare infectious disease +GARD:0018849,GARD:0022524,GARD:0019386,,Rare neurologic disease +GARD:0018849,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0018849,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0018850,GARD:0022506,GARD:0021256,GARD:0021792,Rare hepatic disease +GARD:0018850,GARD:0022535,GARD:0021256,GARD:0022200,Rare neoplastic disease +GARD:0018850,GARD:0022535,GARD:0021256,GARD:0021791,Rare neoplastic disease +GARD:0018850,GARD:0022506,GARD:0021256,GARD:0022200,Rare hepatic disease +GARD:0018850,GARD:0022506,GARD:0021256,GARD:0009304,Rare hepatic disease +GARD:0018850,GARD:0022536,GARD:0021256,GARD:0022200,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018850,GARD:0022506,GARD:0021256,GARD:0010175,Rare hepatic disease +GARD:0018850,GARD:0022536,GARD:0021256,GARD:0010175,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018850,GARD:0022536,GARD:0021256,GARD:0009304,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018850,GARD:0022535,GARD:0021256,GARD:0021792,Rare neoplastic disease +GARD:0018850,GARD:0022535,GARD:0021256,GARD:0009304,Rare neoplastic disease +GARD:0018850,GARD:0022535,GARD:0021256,GARD:0010175,Rare neoplastic disease +GARD:0018850,GARD:0022536,GARD:0021256,GARD:0021792,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018850,GARD:0022506,GARD:0021256,GARD:0021791,Rare hepatic disease +GARD:0018850,GARD:0022536,GARD:0021256,GARD:0021791,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018851,GARD:0022524,GARD:0019484,GARD:0022327,Rare neurologic disease +GARD:0018851,GARD:0022524,GARD:0019484,GARD:0021085,Rare neurologic disease +GARD:0018851,GARD:0022524,GARD:0019484,GARD:0022328,Rare neurologic disease +GARD:0018852,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0018852,GARD:0022536,GARD:0020524,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018852,GARD:0022515,GARD:0020524,,Rare cardiac disease +GARD:0018852,GARD:0022515,GARD:0020530,,Rare cardiac disease +GARD:0018853,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0018853,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0018853,GARD:0022535,GARD:0018907,,Rare neoplastic disease +GARD:0018853,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0018854,GARD:0022511,GARD:0018892,,Rare bone disease +GARD:0018854,GARD:0022535,GARD:0018892,,Rare neoplastic disease +GARD:0018855,GARD:0022524,GARD:0020238,,Rare neurologic disease +GARD:0018855,GARD:0022513,GARD:0020238,,Rare developmental defect during embryogenesis +GARD:0018856,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0018857,GARD:0022535,GARD:0020213,GARD:0021932,Rare neoplastic disease +GARD:0018857,GARD:0022516,GARD:0020213,GARD:0021757,Rare gastroenterologic disease +GARD:0018857,GARD:0022535,GARD:0020213,GARD:0019750,Rare neoplastic disease +GARD:0018857,GARD:0022535,GARD:0020213,GARD:0021757,Rare neoplastic disease +GARD:0018857,GARD:0022516,GARD:0020213,GARD:0021932,Rare gastroenterologic disease +GARD:0018857,GARD:0022516,GARD:0020213,GARD:0019750,Rare gastroenterologic disease +GARD:0018858,GARD:0022510,GARD:0019028,,Rare skin disease +GARD:0018859,GARD:0022531,GARD:0021574,,Rare genetic disease +GARD:0018859,GARD:0022513,GARD:0021574,,Rare developmental defect during embryogenesis +GARD:0018859,GARD:0022511,GARD:0021574,,Rare bone disease +GARD:0018859,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0018859,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0018860,GARD:0022524,GARD:0019435,,Rare neurologic disease +GARD:0018861,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0018862,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0018863,GARD:0022514,GARD:0020198,,Rare gynecologic or obstetric disease +GARD:0018864,GARD:0022535,GARD:0019794,,Rare neoplastic disease +GARD:0018864,GARD:0022517,GARD:0019794,,Rare respiratory disease +GARD:0018865,GARD:0022506,GARD:0022393,,Rare hepatic disease +GARD:0018866,GARD:0022521,GARD:0020136,,Rare endocrine disease +GARD:0018866,GARD:0022525,GARD:0022391,,Rare systemic or rheumatologic disease +GARD:0018867,GARD:0022529,GARD:0020188,,Rare infertility +GARD:0018867,GARD:0022514,GARD:0020188,,Rare gynecologic or obstetric disease +GARD:0018867,GARD:0022532,GARD:0020188,,Rare urogenital disease +GARD:0018867,GARD:0022513,GARD:0020188,,Rare developmental defect during embryogenesis +GARD:0018867,GARD:0022536,GARD:0020188,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018868,GARD:0022531,GARD:0020214,,Rare genetic disease +GARD:0018868,GARD:0022521,GARD:0020214,,Rare endocrine disease +GARD:0018869,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0018869,GARD:0022524,GARD:0021269,,Rare neurologic disease +GARD:0018869,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0018869,GARD:0022520,GARD:0022094,,Rare ophthalmic disorder +GARD:0018869,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0018869,GARD:0022531,GARD:0022094,,Rare genetic disease +GARD:0018869,GARD:0022531,GARD:0021286,,Rare genetic disease +GARD:0018870,GARD:0022522,GARD:0006987,,Rare hematologic disease +GARD:0018870,GARD:0022535,GARD:0006987,,Rare neoplastic disease +GARD:0018871,GARD:0022522,GARD:0006987,,Rare hematologic disease +GARD:0018871,GARD:0022535,GARD:0006987,,Rare neoplastic disease +GARD:0018872,GARD:0022526,GARD:0020055,,Rare odontologic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0022418,Rare genetic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0000731,Rare genetic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0002320,Rare hematologic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0004381,Rare hematologic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0020121,Rare genetic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0007867,Rare genetic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0010418,Rare genetic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0002237,Rare genetic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0002320,Rare genetic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0010766,Rare hematologic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0020121,Rare hematologic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0002684,Rare genetic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0009670,Rare genetic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0020148,Rare hematologic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0017726,Rare hematologic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0017726,Rare genetic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0000731,Rare hematologic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0022413,Rare genetic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0010766,Rare genetic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0016639,Rare genetic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0007867,Rare hematologic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0018787,Rare genetic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0022413,Rare hematologic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0004477,Rare hematologic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0010418,Rare hematologic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0022418,Rare hematologic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0020148,Rare genetic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0004477,Rare genetic disease +GARD:0018873,GARD:0022531,GARD:0020319,GARD:0004381,Rare genetic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0018787,Rare hematologic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0009670,Rare hematologic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0002684,Rare hematologic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0002237,Rare hematologic disease +GARD:0018873,GARD:0022522,GARD:0020672,GARD:0016639,Rare hematologic disease +GARD:0018874,GARD:0022531,GARD:0022531,GARD:0019348,Rare genetic disease +GARD:0018874,GARD:0022531,GARD:0022531,GARD:0019426,Rare genetic disease +GARD:0018874,GARD:0022513,GARD:0022513,GARD:0019417,Rare developmental defect during embryogenesis +GARD:0018874,GARD:0022513,GARD:0022513,GARD:0019348,Rare developmental defect during embryogenesis +GARD:0018874,GARD:0022531,GARD:0022531,GARD:0019417,Rare genetic disease +GARD:0018874,GARD:0022513,GARD:0022513,GARD:0019426,Rare developmental defect during embryogenesis +GARD:0018874,GARD:0022513,GARD:0022513,GARD:0003007,Rare developmental defect during embryogenesis +GARD:0018874,GARD:0022531,GARD:0022531,GARD:0003007,Rare genetic disease +GARD:0018875,GARD:0022531,GARD:0022531,GARD:0021011,Rare genetic disease +GARD:0018875,GARD:0022531,GARD:0022531,GARD:0021014,Rare genetic disease +GARD:0018875,GARD:0022531,GARD:0022531,GARD:0020289,Rare genetic disease +GARD:0018875,GARD:0022531,GARD:0022531,GARD:0021012,Rare genetic disease +GARD:0018875,GARD:0022531,GARD:0022531,GARD:0020310,Rare genetic disease +GARD:0018875,GARD:0022531,GARD:0022531,GARD:0020276,Rare genetic disease +GARD:0018875,GARD:0022531,GARD:0022531,GARD:0021015,Rare genetic disease +GARD:0018875,GARD:0022531,GARD:0022531,GARD:0020324,Rare genetic disease +GARD:0018875,GARD:0022531,GARD:0022531,GARD:0021013,Rare genetic disease +GARD:0018875,GARD:0022531,GARD:0022531,GARD:0021434,Rare genetic disease +GARD:0018875,GARD:0022531,GARD:0022531,GARD:0020307,Rare genetic disease +GARD:0018876,GARD:0022513,GARD:0022513,GARD:0019833,Rare developmental defect during embryogenesis +GARD:0018876,GARD:0022513,GARD:0022513,GARD:0019832,Rare developmental defect during embryogenesis +GARD:0018876,GARD:0022513,GARD:0022513,GARD:0021925,Rare developmental defect during embryogenesis +GARD:0018877,GARD:0022531,GARD:0022531,GARD:0020269,Rare genetic disease +GARD:0018877,GARD:0022531,GARD:0022531,GARD:0022488,Rare genetic disease +GARD:0018877,GARD:0022531,GARD:0022531,GARD:0019013,Rare genetic disease +GARD:0018877,GARD:0022531,GARD:0022531,GARD:0020260,Rare genetic disease +GARD:0018877,GARD:0022531,GARD:0022531,GARD:0020276,Rare genetic disease +GARD:0018877,GARD:0022531,GARD:0022531,GARD:0020258,Rare genetic disease +GARD:0018877,GARD:0022531,GARD:0022531,GARD:0018932,Rare genetic disease +GARD:0018877,GARD:0022531,GARD:0022531,GARD:0019015,Rare genetic disease +GARD:0018877,GARD:0022531,GARD:0022531,GARD:0020277,Rare genetic disease +GARD:0018877,GARD:0022531,GARD:0022531,GARD:0019017,Rare genetic disease +GARD:0018877,GARD:0022531,GARD:0022531,GARD:0020272,Rare genetic disease +GARD:0018877,GARD:0022531,GARD:0022531,GARD:0020278,Rare genetic disease +GARD:0018877,GARD:0022531,GARD:0022531,GARD:0020275,Rare genetic disease +GARD:0018877,GARD:0022531,GARD:0022531,GARD:0020265,Rare genetic disease +GARD:0018878,GARD:0022535,GARD:0019401,GARD:0012980,Rare neoplastic disease +GARD:0018878,GARD:0022535,GARD:0019401,GARD:0006987,Rare neoplastic disease +GARD:0018878,GARD:0022522,GARD:0022522,GARD:0000915,Rare hematologic disease +GARD:0018878,GARD:0022535,GARD:0019401,GARD:0020131,Rare neoplastic disease +GARD:0018878,GARD:0022522,GARD:0022522,GARD:0013030,Rare hematologic disease +GARD:0018878,GARD:0022522,GARD:0022522,GARD:0006987,Rare hematologic disease +GARD:0018878,GARD:0022522,GARD:0022522,GARD:0020131,Rare hematologic disease +GARD:0018878,GARD:0022535,GARD:0019401,GARD:0020130,Rare neoplastic disease +GARD:0018878,GARD:0022535,GARD:0019401,GARD:0000915,Rare neoplastic disease +GARD:0018878,GARD:0022522,GARD:0022522,GARD:0012980,Rare hematologic disease +GARD:0018878,GARD:0022522,GARD:0022522,GARD:0020130,Rare hematologic disease +GARD:0018878,GARD:0022535,GARD:0019401,GARD:0013030,Rare neoplastic disease +GARD:0018879,GARD:0022524,GARD:0022524,GARD:0012372,Rare neurologic disease +GARD:0018879,GARD:0022524,GARD:0022524,GARD:0002483,Rare neurologic disease +GARD:0018879,GARD:0022524,GARD:0022524,GARD:0022416,Rare neurologic disease +GARD:0018879,GARD:0022524,GARD:0022524,GARD:0009242,Rare neurologic disease +GARD:0018879,GARD:0022524,GARD:0022524,GARD:0022460,Rare neurologic disease +GARD:0018879,GARD:0022524,GARD:0022524,GARD:0021749,Rare neurologic disease +GARD:0018879,GARD:0022524,GARD:0022524,GARD:0010949,Rare neurologic disease +GARD:0018879,GARD:0022524,GARD:0022524,GARD:0008737,Rare neurologic disease +GARD:0018879,GARD:0022524,GARD:0022524,GARD:0003117,Rare neurologic disease +GARD:0018880,GARD:0022528,GARD:0022528,GARD:0012927,Rare otorhinolaryngologic disease +GARD:0018880,GARD:0022528,GARD:0022528,GARD:0019145,Rare otorhinolaryngologic disease +GARD:0018880,GARD:0022528,GARD:0022528,GARD:0019091,Rare otorhinolaryngologic disease +GARD:0018881,GARD:0022527,GARD:0022527,GARD:0022014,Rare circulatory system disease +GARD:0018881,GARD:0022527,GARD:0022527,GARD:0018844,Rare circulatory system disease +GARD:0018882,GARD:0022524,GARD:0022008,GARD:0021596,Rare neurologic disease +GARD:0018882,GARD:0022524,GARD:0022008,GARD:0019432,Rare neurologic disease +GARD:0018882,GARD:0022524,GARD:0022008,GARD:0019985,Rare neurologic disease +GARD:0018882,GARD:0022524,GARD:0022008,GARD:0021273,Rare neurologic disease +GARD:0018883,GARD:0022522,GARD:0019869,GARD:0002641,Rare hematologic disease +GARD:0018883,GARD:0022522,GARD:0019869,GARD:0002640,Rare hematologic disease +GARD:0018883,GARD:0022522,GARD:0019869,GARD:0022458,Rare hematologic disease +GARD:0018883,GARD:0022536,GARD:0022063,GARD:0019103,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018883,GARD:0022536,GARD:0022063,GARD:0002659,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018883,GARD:0022536,GARD:0022063,GARD:0002641,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018883,GARD:0022536,GARD:0022063,GARD:0021024,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018883,GARD:0022536,GARD:0022063,GARD:0019670,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018883,GARD:0022522,GARD:0019869,GARD:0021022,Rare hematologic disease +GARD:0018883,GARD:0022536,GARD:0022063,GARD:0017297,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018883,GARD:0022522,GARD:0019869,GARD:0019103,Rare hematologic disease +GARD:0018883,GARD:0022522,GARD:0019869,GARD:0019670,Rare hematologic disease +GARD:0018883,GARD:0022522,GARD:0019869,GARD:0013007,Rare hematologic disease +GARD:0018883,GARD:0022522,GARD:0019869,GARD:0017297,Rare hematologic disease +GARD:0018883,GARD:0022536,GARD:0022063,GARD:0021930,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018883,GARD:0022536,GARD:0022063,GARD:0021023,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018883,GARD:0022522,GARD:0019869,GARD:0002659,Rare hematologic disease +GARD:0018883,GARD:0022522,GARD:0019869,GARD:0021023,Rare hematologic disease +GARD:0018883,GARD:0022536,GARD:0022063,GARD:0022458,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018883,GARD:0022536,GARD:0022063,GARD:0002640,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018883,GARD:0022522,GARD:0019869,GARD:0021930,Rare hematologic disease +GARD:0018883,GARD:0022522,GARD:0019869,GARD:0021024,Rare hematologic disease +GARD:0018883,GARD:0022536,GARD:0022063,GARD:0021022,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018883,GARD:0022536,GARD:0022063,GARD:0013007,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018884,GARD:0022508,GARD:0022508,GARD:0021332,Rare inborn errors of metabolism +GARD:0018884,GARD:0022508,GARD:0022508,GARD:0018974,Rare inborn errors of metabolism +GARD:0018884,GARD:0022531,GARD:0022508,GARD:0004611,Rare genetic disease +GARD:0018884,GARD:0022508,GARD:0022508,GARD:0016636,Rare inborn errors of metabolism +GARD:0018884,GARD:0022531,GARD:0022508,GARD:0010670,Rare genetic disease +GARD:0018884,GARD:0022508,GARD:0022508,GARD:0010670,Rare inborn errors of metabolism +GARD:0018884,GARD:0022531,GARD:0022508,GARD:0016636,Rare genetic disease +GARD:0018884,GARD:0022531,GARD:0022508,GARD:0021333,Rare genetic disease +GARD:0018884,GARD:0022531,GARD:0022508,GARD:0007672,Rare genetic disease +GARD:0018884,GARD:0022508,GARD:0022508,GARD:0010739,Rare inborn errors of metabolism +GARD:0018884,GARD:0022508,GARD:0022508,GARD:0021333,Rare inborn errors of metabolism +GARD:0018884,GARD:0022531,GARD:0022508,GARD:0017378,Rare genetic disease +GARD:0018884,GARD:0022508,GARD:0022508,GARD:0007065,Rare inborn errors of metabolism +GARD:0018884,GARD:0022531,GARD:0022508,GARD:0010739,Rare genetic disease +GARD:0018884,GARD:0022508,GARD:0022508,GARD:0007672,Rare inborn errors of metabolism +GARD:0018884,GARD:0022508,GARD:0022508,GARD:0017378,Rare inborn errors of metabolism +GARD:0018884,GARD:0022508,GARD:0022508,GARD:0004611,Rare inborn errors of metabolism +GARD:0018884,GARD:0022531,GARD:0022508,GARD:0007065,Rare genetic disease +GARD:0018884,GARD:0022531,GARD:0022508,GARD:0018974,Rare genetic disease +GARD:0018884,GARD:0022531,GARD:0022508,GARD:0021332,Rare genetic disease +GARD:0018885,GARD:0022531,GARD:0022508,GARD:0011890,Rare genetic disease +GARD:0018885,GARD:0022508,GARD:0022508,GARD:0012472,Rare inborn errors of metabolism +GARD:0018885,GARD:0022531,GARD:0022508,GARD:0012476,Rare genetic disease +GARD:0018885,GARD:0022508,GARD:0022508,GARD:0012476,Rare inborn errors of metabolism +GARD:0018885,GARD:0022508,GARD:0022508,GARD:0018790,Rare inborn errors of metabolism +GARD:0018885,GARD:0022508,GARD:0022508,GARD:0011890,Rare inborn errors of metabolism +GARD:0018885,GARD:0022531,GARD:0022508,GARD:0012472,Rare genetic disease +GARD:0018885,GARD:0022531,GARD:0022508,GARD:0018790,Rare genetic disease +GARD:0018886,GARD:0022513,GARD:0022513,GARD:0019872,Rare developmental defect during embryogenesis +GARD:0018886,GARD:0022513,GARD:0022513,GARD:0019871,Rare developmental defect during embryogenesis +GARD:0018887,GARD:0022531,GARD:0018972,GARD:0020546,Rare genetic disease +GARD:0018887,GARD:0022508,GARD:0018972,GARD:0020761,Rare inborn errors of metabolism +GARD:0018887,GARD:0022531,GARD:0018972,GARD:0020764,Rare genetic disease +GARD:0018887,GARD:0022531,GARD:0018972,GARD:0012679,Rare genetic disease +GARD:0018887,GARD:0022508,GARD:0018972,GARD:0012679,Rare inborn errors of metabolism +GARD:0018887,GARD:0022508,GARD:0018972,GARD:0020764,Rare inborn errors of metabolism +GARD:0018887,GARD:0022508,GARD:0018972,GARD:0020546,Rare inborn errors of metabolism +GARD:0018887,GARD:0022531,GARD:0018972,GARD:0020761,Rare genetic disease +GARD:0018888,GARD:0022524,GARD:0022524,GARD:0018917,Rare neurologic disease +GARD:0018888,GARD:0022524,GARD:0022524,GARD:0019473,Rare neurologic disease +GARD:0018888,GARD:0022524,GARD:0022524,GARD:0019477,Rare neurologic disease +GARD:0018888,GARD:0022524,GARD:0022524,GARD:0019471,Rare neurologic disease +GARD:0018889,GARD:0022536,GARD:0020234,GARD:0010905,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018889,GARD:0022522,GARD:0020234,GARD:0006425,Rare hematologic disease +GARD:0018889,GARD:0022531,GARD:0020318,GARD:0000039,Rare genetic disease +GARD:0018889,GARD:0022531,GARD:0020318,GARD:0006425,Rare genetic disease +GARD:0018889,GARD:0022536,GARD:0020234,GARD:0000640,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018889,GARD:0022531,GARD:0020318,GARD:0010905,Rare genetic disease +GARD:0018889,GARD:0022531,GARD:0020318,GARD:0017655,Rare genetic disease +GARD:0018889,GARD:0022522,GARD:0020234,GARD:0004863,Rare hematologic disease +GARD:0018889,GARD:0022531,GARD:0020318,GARD:0018026,Rare genetic disease +GARD:0018889,GARD:0022531,GARD:0020318,GARD:0017420,Rare genetic disease +GARD:0018889,GARD:0022531,GARD:0020318,GARD:0006274,Rare genetic disease +GARD:0018889,GARD:0022536,GARD:0020234,GARD:0017420,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018889,GARD:0022522,GARD:0020234,GARD:0018026,Rare hematologic disease +GARD:0018889,GARD:0022531,GARD:0020318,GARD:0004863,Rare genetic disease +GARD:0018889,GARD:0022522,GARD:0020234,GARD:0000039,Rare hematologic disease +GARD:0018889,GARD:0022522,GARD:0020234,GARD:0000346,Rare hematologic disease +GARD:0018889,GARD:0022536,GARD:0020234,GARD:0004695,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018889,GARD:0022536,GARD:0020234,GARD:0000346,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018889,GARD:0022522,GARD:0020234,GARD:0017655,Rare hematologic disease +GARD:0018889,GARD:0022536,GARD:0020234,GARD:0006274,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018889,GARD:0022531,GARD:0020318,GARD:0000640,Rare genetic disease +GARD:0018889,GARD:0022536,GARD:0020234,GARD:0006425,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018889,GARD:0022522,GARD:0020234,GARD:0017635,Rare hematologic disease +GARD:0018889,GARD:0022522,GARD:0020234,GARD:0010905,Rare hematologic disease +GARD:0018889,GARD:0022522,GARD:0020234,GARD:0000640,Rare hematologic disease +GARD:0018889,GARD:0022536,GARD:0020234,GARD:0017635,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018889,GARD:0022531,GARD:0020318,GARD:0004695,Rare genetic disease +GARD:0018889,GARD:0022522,GARD:0020234,GARD:0004695,Rare hematologic disease +GARD:0018889,GARD:0022531,GARD:0020318,GARD:0000346,Rare genetic disease +GARD:0018889,GARD:0022522,GARD:0020234,GARD:0006274,Rare hematologic disease +GARD:0018889,GARD:0022536,GARD:0020234,GARD:0000039,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018889,GARD:0022536,GARD:0020234,GARD:0017655,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018889,GARD:0022531,GARD:0020318,GARD:0017635,Rare genetic disease +GARD:0018889,GARD:0022536,GARD:0020234,GARD:0004863,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018889,GARD:0022522,GARD:0020234,GARD:0017420,Rare hematologic disease +GARD:0018889,GARD:0022536,GARD:0020234,GARD:0018026,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0003230,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0021819,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017999,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0007144,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0010716,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0007383,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0021348,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017123,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0010870,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0010423,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0010730,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0010039,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0011890,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0006830,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017806,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017856,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017994,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0006468,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0002943,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0005854,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0005061,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017503,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0007009,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0022247,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0010739,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0022231,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0007207,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0009741,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0007144,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017769,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0021752,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0013264,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0000262,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0018938,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0007639,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0003671,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0018815,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0002943,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0010731,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0007654,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017487,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0006476,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0009265,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0010327,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017378,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0016669,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0008539,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0010870,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017990,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017515,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0001608,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017515,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0001903,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017487,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0021819,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0005783,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0010891,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017321,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0003908,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0012963,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0003129,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0010335,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017827,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0003671,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0005758,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017699,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017727,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0013160,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017771,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0000617,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0012681,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0022468,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017940,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0008595,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0018018,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0010039,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0005691,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017987,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0016486,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0000770,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0018035,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0007206,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017503,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017643,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0005984,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0005783,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0006468,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0007695,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0010761,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017991,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017617,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0022456,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0013202,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0000547,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0012505,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0009265,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0009870,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0001903,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0010237,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0003953,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017699,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017794,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0022468,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0002443,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0010730,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017171,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0007473,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0006675,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0016549,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017767,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017936,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017771,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0003956,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017759,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017936,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0005061,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017983,Rare neurologic disease 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+GARD:0018890,GARD:0022531,GARD:0018915,GARD:0000005,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0006844,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0007207,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0002442,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017864,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0013319,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017999,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0006968,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0007219,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017769,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0012681,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0016549,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0001521,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017994,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0009298,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0000617,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0006710,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0010594,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0010731,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017827,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017700,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0010237,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0000262,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0002443,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0007893,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0013160,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017794,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017228,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0005691,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017365,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0006522,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0012472,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0016486,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0013264,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0011890,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0018938,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0016479,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0006667,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0006710,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0002847,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0012963,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0007206,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017775,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0016537,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0006569,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017856,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0003908,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0007695,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017865,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0001191,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0000770,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0018012,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0009870,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0021348,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0008397,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0002847,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0010594,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0016621,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0010335,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0006844,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0010761,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0007219,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0006817,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0002578,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0010322,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017865,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0007731,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0021603,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0012678,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0003531,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0011899,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017365,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017759,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017225,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0017793,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0022192,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0005622,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0010323,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0006426,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0006426,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017228,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0018035,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0012472,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0006877,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0022015,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0005984,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0009741,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0007654,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0018815,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0003531,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017225,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0006675,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0005622,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0008397,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0022015,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017026,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0000547,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0016479,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0008595,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0012678,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017321,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0010323,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0006817,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0013202,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0017991,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0009848,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0010322,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0000049,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0011899,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0000194,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0016621,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0018018,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0006667,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0007383,Rare genetic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0012505,Rare genetic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0007639,Rare neurologic disease +GARD:0018890,GARD:0022524,GARD:0022524,GARD:0021603,Rare neurologic disease +GARD:0018890,GARD:0022531,GARD:0018915,GARD:0002442,Rare genetic disease +GARD:0018891,GARD:0022524,GARD:0019817,GARD:0021261,Rare neurologic disease +GARD:0018891,GARD:0022524,GARD:0019817,GARD:0021627,Rare neurologic disease +GARD:0018891,GARD:0022524,GARD:0019817,GARD:0009628,Rare neurologic disease +GARD:0018891,GARD:0022524,GARD:0019817,GARD:0021263,Rare neurologic disease +GARD:0018892,GARD:0022535,GARD:0019401,GARD:0021720,Rare neoplastic disease +GARD:0018892,GARD:0022511,GARD:0022511,GARD:0006958,Rare bone disease +GARD:0018892,GARD:0022535,GARD:0019401,GARD:0007035,Rare neoplastic disease +GARD:0018892,GARD:0022535,GARD:0019401,GARD:0010072,Rare neoplastic disease +GARD:0018892,GARD:0022511,GARD:0022511,GARD:0010072,Rare bone disease +GARD:0018892,GARD:0022511,GARD:0022511,GARD:0020547,Rare bone disease +GARD:0018892,GARD:0022535,GARD:0019401,GARD:0016660,Rare neoplastic disease +GARD:0018892,GARD:0022511,GARD:0022511,GARD:0021720,Rare bone disease +GARD:0018892,GARD:0022511,GARD:0022511,GARD:0017713,Rare bone disease +GARD:0018892,GARD:0022535,GARD:0019401,GARD:0004129,Rare neoplastic disease +GARD:0018892,GARD:0022535,GARD:0019401,GARD:0019039,Rare neoplastic disease +GARD:0018892,GARD:0022511,GARD:0022511,GARD:0007035,Rare bone disease +GARD:0018892,GARD:0022511,GARD:0022511,GARD:0019039,Rare bone disease +GARD:0018892,GARD:0022535,GARD:0019401,GARD:0021982,Rare neoplastic disease +GARD:0018892,GARD:0022511,GARD:0022511,GARD:0016660,Rare bone disease +GARD:0018892,GARD:0022511,GARD:0022511,GARD:0007251,Rare bone disease +GARD:0018892,GARD:0022535,GARD:0019401,GARD:0001303,Rare neoplastic disease +GARD:0018892,GARD:0022535,GARD:0019401,GARD:0006958,Rare neoplastic disease +GARD:0018892,GARD:0022535,GARD:0019401,GARD:0017713,Rare neoplastic disease +GARD:0018892,GARD:0022511,GARD:0022511,GARD:0018854,Rare bone disease +GARD:0018892,GARD:0022535,GARD:0019401,GARD:0007251,Rare neoplastic disease +GARD:0018892,GARD:0022535,GARD:0019401,GARD:0018854,Rare neoplastic disease +GARD:0018892,GARD:0022511,GARD:0022511,GARD:0004129,Rare bone disease +GARD:0018892,GARD:0022511,GARD:0022511,GARD:0001303,Rare bone disease +GARD:0018892,GARD:0022535,GARD:0019401,GARD:0020547,Rare neoplastic disease +GARD:0018892,GARD:0022511,GARD:0022511,GARD:0021982,Rare bone disease +GARD:0018893,GARD:0022521,GARD:0022521,GARD:0020225,Rare endocrine disease +GARD:0018893,GARD:0022521,GARD:0022521,GARD:0021132,Rare endocrine disease +GARD:0018893,GARD:0022521,GARD:0022521,GARD:0017374,Rare endocrine disease +GARD:0018893,GARD:0022521,GARD:0022521,GARD:0010877,Rare endocrine disease +GARD:0018893,GARD:0022521,GARD:0022521,GARD:0020224,Rare endocrine disease +GARD:0018893,GARD:0022521,GARD:0022521,GARD:0010828,Rare endocrine disease +GARD:0018893,GARD:0022521,GARD:0022521,GARD:0019764,Rare endocrine disease +GARD:0018893,GARD:0022521,GARD:0022521,GARD:0009652,Rare endocrine disease +GARD:0018894,GARD:0022527,GARD:0022527,GARD:0021916,Rare circulatory system disease +GARD:0018894,GARD:0022513,GARD:0022513,GARD:0021916,Rare developmental defect during embryogenesis +GARD:0018894,GARD:0022513,GARD:0022513,GARD:0021917,Rare developmental defect during embryogenesis +GARD:0018894,GARD:0022513,GARD:0022513,GARD:0020460,Rare developmental defect during embryogenesis +GARD:0018894,GARD:0022527,GARD:0022527,GARD:0020460,Rare circulatory system disease +GARD:0018894,GARD:0022527,GARD:0022527,GARD:0021917,Rare circulatory system disease +GARD:0018894,GARD:0022513,GARD:0022513,GARD:0020465,Rare developmental defect during embryogenesis +GARD:0018894,GARD:0022513,GARD:0022513,GARD:0020458,Rare developmental defect during embryogenesis +GARD:0018894,GARD:0022527,GARD:0022527,GARD:0020465,Rare circulatory system disease +GARD:0018894,GARD:0022527,GARD:0022527,GARD:0020458,Rare circulatory system disease +GARD:0018895,GARD:0022513,GARD:0019871,GARD:0022022,Rare developmental defect during embryogenesis +GARD:0018895,GARD:0022513,GARD:0019871,GARD:0022023,Rare developmental defect during embryogenesis +GARD:0018895,GARD:0022513,GARD:0021572,GARD:0022022,Rare developmental defect during embryogenesis +GARD:0018895,GARD:0022531,GARD:0021726,GARD:0022022,Rare genetic disease +GARD:0018895,GARD:0022513,GARD:0021572,GARD:0022023,Rare developmental defect during embryogenesis +GARD:0018895,GARD:0022511,GARD:0021572,GARD:0022023,Rare bone disease +GARD:0018895,GARD:0022531,GARD:0021728,GARD:0022023,Rare genetic disease +GARD:0018895,GARD:0022511,GARD:0021572,GARD:0022022,Rare bone disease +GARD:0018895,GARD:0022531,GARD:0021728,GARD:0022022,Rare genetic disease +GARD:0018895,GARD:0022531,GARD:0021726,GARD:0022023,Rare genetic disease +GARD:0018896,GARD:0022512,GARD:0022293,,Rare renal disease +GARD:0018896,GARD:0022536,GARD:0022293,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018896,GARD:0022531,GARD:0022293,,Rare genetic disease +GARD:0018897,GARD:0022513,GARD:0016484,,Rare developmental defect during embryogenesis +GARD:0018897,GARD:0022531,GARD:0016484,,Rare genetic disease +GARD:0018897,GARD:0022520,GARD:0016484,,Rare ophthalmic disorder +GARD:0018898,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0018899,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0018900,GARD:0022533,GARD:0022139,,Rare disorder due to toxic effects +GARD:0018900,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0018901,GARD:0022516,GARD:0006383,,Rare gastroenterologic disease +GARD:0018901,GARD:0022535,GARD:0006383,,Rare neoplastic disease +GARD:0018902,GARD:0022517,GARD:0020932,,Rare respiratory disease +GARD:0018902,GARD:0022536,GARD:0020932,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018903,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0018903,GARD:0022509,GARD:0020626,,Rare infectious disease +GARD:0018903,GARD:0022505,GARD:0020626,,Rare teratologic disease +GARD:0018903,GARD:0022513,GARD:0020626,,Rare developmental defect during embryogenesis +GARD:0018904,GARD:0022517,GARD:0022517,GARD:0013124,Rare respiratory disease +GARD:0018904,GARD:0022517,GARD:0022517,GARD:0007501,Rare respiratory disease +GARD:0018904,GARD:0022517,GARD:0022517,GARD:0021035,Rare respiratory disease +GARD:0018904,GARD:0022517,GARD:0022517,GARD:0021034,Rare respiratory disease +GARD:0018904,GARD:0022517,GARD:0022517,GARD:0021036,Rare respiratory disease +GARD:0018904,GARD:0022517,GARD:0022517,GARD:0021801,Rare respiratory disease +GARD:0018905,GARD:0022531,GARD:0020319,GARD:0021020,Rare genetic disease +GARD:0018905,GARD:0022531,GARD:0020319,GARD:0021019,Rare genetic disease +GARD:0018905,GARD:0022522,GARD:0020673,GARD:0021019,Rare hematologic disease +GARD:0018905,GARD:0022522,GARD:0020673,GARD:0021020,Rare hematologic disease +GARD:0018906,GARD:0022522,GARD:0020675,GARD:0006389,Rare hematologic disease +GARD:0018906,GARD:0022522,GARD:0020675,GARD:0017737,Rare hematologic disease +GARD:0018906,GARD:0022522,GARD:0020675,GARD:0005194,Rare hematologic disease +GARD:0018907,GARD:0022535,GARD:0019401,GARD:0007146,Rare neoplastic disease +GARD:0018907,GARD:0022535,GARD:0019401,GARD:0020016,Rare neoplastic disease +GARD:0018907,GARD:0022535,GARD:0019401,GARD:0003077,Rare neoplastic disease +GARD:0018907,GARD:0022535,GARD:0019401,GARD:0012015,Rare neoplastic disease +GARD:0018907,GARD:0022535,GARD:0019401,GARD:0019367,Rare neoplastic disease +GARD:0018907,GARD:0022535,GARD:0019401,GARD:0004898,Rare neoplastic disease +GARD:0018907,GARD:0022535,GARD:0019401,GARD:0018853,Rare neoplastic disease +GARD:0018907,GARD:0022535,GARD:0019401,GARD:0002998,Rare neoplastic disease +GARD:0018907,GARD:0022535,GARD:0019401,GARD:0021626,Rare neoplastic disease +GARD:0018907,GARD:0022535,GARD:0019401,GARD:0016583,Rare neoplastic disease +GARD:0018907,GARD:0022535,GARD:0019401,GARD:0001820,Rare neoplastic disease +GARD:0018907,GARD:0022535,GARD:0019401,GARD:0021959,Rare neoplastic disease +GARD:0018907,GARD:0022535,GARD:0019401,GARD:0022383,Rare neoplastic disease +GARD:0018907,GARD:0022535,GARD:0019401,GARD:0021152,Rare neoplastic disease +GARD:0018908,GARD:0022531,GARD:0021614,,Rare genetic disease +GARD:0018908,GARD:0022531,GARD:0021923,,Rare genetic disease +GARD:0018908,GARD:0022527,GARD:0020458,,Rare circulatory system disease +GARD:0018908,GARD:0022513,GARD:0020458,,Rare developmental defect during embryogenesis +GARD:0018908,GARD:0022531,GARD:0022184,,Rare genetic disease +GARD:0018908,GARD:0022520,GARD:0022104,,Rare ophthalmic disorder +GARD:0018908,GARD:0022524,GARD:0019819,,Rare neurologic disease +GARD:0018908,GARD:0022535,GARD:0020458,,Rare neoplastic disease +GARD:0018909,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018909,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0018909,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018909,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0018909,GARD:0022513,GARD:0020209,,Rare developmental defect during embryogenesis +GARD:0018909,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0018909,GARD:0022526,GARD:0020209,,Rare odontologic disease +GARD:0018909,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0018909,GARD:0022531,GARD:0020209,,Rare genetic disease +GARD:0018909,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018910,GARD:0022528,GARD:0022528,,Rare otorhinolaryngologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0008703,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0012811,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0001613,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0007855,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0021871,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0021533,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0006121,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0021824,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0010768,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0021964,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0009643,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0021989,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0019114,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0012868,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0021960,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0007713,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0007664,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0019819,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0021485,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0012779,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0019875,Rare neurologic disease +GARD:0018911,GARD:0022524,GARD:0022524,GARD:0018823,Rare neurologic disease +GARD:0018912,GARD:0022524,GARD:0007326,,Rare neurologic disease +GARD:0018912,GARD:0022520,GARD:0022103,,Rare ophthalmic disorder +GARD:0018913,GARD:0022531,GARD:0020340,,Rare genetic disease +GARD:0018913,GARD:0022524,GARD:0020340,,Rare neurologic disease +GARD:0018914,GARD:0022524,GARD:0019817,,Rare neurologic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0022140,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0020099,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0018890,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0020280,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0020282,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0021802,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0020284,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0017082,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0009242,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0020325,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0019568,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0022438,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0008333,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0020279,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0010711,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0020028,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0020281,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0017875,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0020286,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0012854,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0020287,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0006895,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0020446,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0020285,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0012889,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0020283,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0017109,Rare genetic disease +GARD:0018915,GARD:0022531,GARD:0022531,GARD:0002347,Rare genetic disease +GARD:0018916,GARD:0022520,GARD:0022103,GARD:0022108,Rare ophthalmic disorder +GARD:0018916,GARD:0022520,GARD:0022103,GARD:0022136,Rare ophthalmic disorder +GARD:0018916,GARD:0022531,GARD:0022182,GARD:0022108,Rare genetic disease +GARD:0018916,GARD:0022531,GARD:0022182,GARD:0022136,Rare genetic disease +GARD:0018917,GARD:0022524,GARD:0018888,GARD:0019575,Rare neurologic disease +GARD:0018917,GARD:0022524,GARD:0018888,GARD:0019562,Rare neurologic disease +GARD:0018918,GARD:0022536,GARD:0022062,GARD:0016945,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018918,GARD:0022516,GARD:0019873,GARD:0007039,Rare gastroenterologic disease +GARD:0018918,GARD:0022516,GARD:0019873,GARD:0005258,Rare gastroenterologic disease +GARD:0018918,GARD:0022516,GARD:0019873,GARD:0016945,Rare gastroenterologic disease +GARD:0018918,GARD:0022536,GARD:0022062,GARD:0022262,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018918,GARD:0022516,GARD:0019873,GARD:0022262,Rare gastroenterologic disease +GARD:0018918,GARD:0022536,GARD:0022062,GARD:0017500,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018918,GARD:0022536,GARD:0022062,GARD:0010630,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018918,GARD:0022516,GARD:0019873,GARD:0022148,Rare gastroenterologic disease +GARD:0018918,GARD:0022516,GARD:0019873,GARD:0010630,Rare gastroenterologic disease +GARD:0018918,GARD:0022536,GARD:0022062,GARD:0007039,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018918,GARD:0022536,GARD:0022062,GARD:0005258,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018918,GARD:0022536,GARD:0022062,GARD:0022147,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018918,GARD:0022536,GARD:0022062,GARD:0022148,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018918,GARD:0022516,GARD:0019873,GARD:0016576,Rare gastroenterologic disease +GARD:0018918,GARD:0022536,GARD:0022062,GARD:0019882,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018918,GARD:0022516,GARD:0019873,GARD:0022147,Rare gastroenterologic disease +GARD:0018918,GARD:0022516,GARD:0019873,GARD:0019882,Rare gastroenterologic disease +GARD:0018918,GARD:0022516,GARD:0019873,GARD:0017500,Rare gastroenterologic disease +GARD:0018918,GARD:0022536,GARD:0022062,GARD:0016576,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018919,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018919,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018919,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018920,GARD:0022531,GARD:0020529,,Rare genetic disease +GARD:0018920,GARD:0022536,GARD:0020529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018920,GARD:0022515,GARD:0020529,,Rare cardiac disease +GARD:0018920,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0018920,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0018921,GARD:0022513,GARD:0019202,,Rare developmental defect during embryogenesis +GARD:0018921,GARD:0022517,GARD:0020248,,Rare respiratory disease +GARD:0018921,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018921,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018921,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018921,GARD:0022531,GARD:0019202,,Rare genetic disease +GARD:0018921,GARD:0022511,GARD:0019202,,Rare bone disease +GARD:0018922,GARD:0022524,GARD:0020381,,Rare neurologic disease +GARD:0018922,GARD:0022524,GARD:0021002,,Rare neurologic disease +GARD:0018922,GARD:0022531,GARD:0020381,,Rare genetic disease +GARD:0018922,GARD:0022513,GARD:0021002,,Rare developmental defect during embryogenesis +GARD:0018923,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0018923,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018923,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018923,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018923,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0018924,GARD:0022509,GARD:0020046,GARD:0020066,Rare infectious disease +GARD:0018924,GARD:0022509,GARD:0020046,GARD:0019723,Rare infectious disease +GARD:0018925,GARD:0022531,GARD:0022105,,Rare genetic disease +GARD:0018925,GARD:0022520,GARD:0022105,,Rare ophthalmic disorder +GARD:0018926,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0018926,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0018926,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0018926,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0018926,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0018926,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0018927,GARD:0022527,GARD:0020465,,Rare circulatory system disease +GARD:0018927,GARD:0022531,GARD:0020629,,Rare genetic disease +GARD:0018927,GARD:0022511,GARD:0020629,,Rare bone disease +GARD:0018927,GARD:0022513,GARD:0020465,,Rare developmental defect during embryogenesis +GARD:0018928,GARD:0022515,GARD:0020535,,Rare cardiac disease +GARD:0018929,GARD:0022515,GARD:0020535,,Rare cardiac disease +GARD:0018930,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0018931,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0018931,GARD:0022513,GARD:0020826,,Rare developmental defect during embryogenesis +GARD:0018931,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0018931,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018931,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0018931,GARD:0022531,GARD:0020826,,Rare genetic disease +GARD:0018932,GARD:0022513,GARD:0020463,GARD:0022296,Rare developmental defect during embryogenesis +GARD:0018932,GARD:0022531,GARD:0018877,GARD:0022297,Rare genetic disease +GARD:0018932,GARD:0022527,GARD:0020463,GARD:0022296,Rare circulatory system disease +GARD:0018932,GARD:0022527,GARD:0020463,GARD:0022297,Rare circulatory system disease +GARD:0018932,GARD:0022531,GARD:0020459,GARD:0022298,Rare genetic disease +GARD:0018932,GARD:0022531,GARD:0020459,GARD:0022297,Rare genetic disease +GARD:0018932,GARD:0022513,GARD:0020463,GARD:0022297,Rare developmental defect during embryogenesis +GARD:0018932,GARD:0022531,GARD:0018877,GARD:0022298,Rare genetic disease +GARD:0018932,GARD:0022531,GARD:0020459,GARD:0022296,Rare genetic disease +GARD:0018932,GARD:0022510,GARD:0022510,GARD:0022297,Rare skin disease +GARD:0018932,GARD:0022513,GARD:0020463,GARD:0022298,Rare developmental defect during embryogenesis +GARD:0018932,GARD:0022510,GARD:0022510,GARD:0022296,Rare skin disease +GARD:0018932,GARD:0022510,GARD:0022510,GARD:0022298,Rare skin disease +GARD:0018932,GARD:0022527,GARD:0020463,GARD:0022298,Rare circulatory system disease +GARD:0018932,GARD:0022531,GARD:0018877,GARD:0022296,Rare genetic disease +GARD:0018933,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0018933,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0018933,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0018933,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0018933,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0018933,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0018934,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0018934,GARD:0022531,GARD:0020829,,Rare genetic disease +GARD:0018934,GARD:0022513,GARD:0020829,,Rare developmental defect during embryogenesis +GARD:0018934,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0018935,GARD:0022521,GARD:0022521,GARD:0019439,Rare endocrine disease +GARD:0018935,GARD:0022521,GARD:0022521,GARD:0020650,Rare endocrine disease +GARD:0018935,GARD:0022531,GARD:0020300,GARD:0020650,Rare genetic disease +GARD:0018935,GARD:0022531,GARD:0020300,GARD:0019439,Rare genetic disease +GARD:0018935,GARD:0022531,GARD:0020011,GARD:0020650,Rare genetic disease +GARD:0018935,GARD:0022531,GARD:0020011,GARD:0019439,Rare genetic disease +GARD:0018936,GARD:0022531,GARD:0022531,GARD:0017997,Rare genetic disease +GARD:0018936,GARD:0022531,GARD:0022531,GARD:0001808,Rare genetic disease +GARD:0018936,GARD:0022531,GARD:0022531,GARD:0021950,Rare genetic disease +GARD:0018936,GARD:0022531,GARD:0022531,GARD:0021748,Rare genetic disease +GARD:0018936,GARD:0022531,GARD:0022531,GARD:0020095,Rare genetic disease +GARD:0018936,GARD:0022531,GARD:0022531,GARD:0020209,Rare genetic disease +GARD:0018936,GARD:0022531,GARD:0022531,GARD:0022326,Rare genetic disease +GARD:0018936,GARD:0022531,GARD:0022531,GARD:0017776,Rare genetic disease +GARD:0018936,GARD:0022531,GARD:0022531,GARD:0017993,Rare genetic disease +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0018961,Rare inborn errors of metabolism +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0018961,Rare genetic disease +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0018948,Rare genetic disease +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0021622,Rare inborn errors of metabolism +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0021303,Rare genetic disease +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0018964,Rare inborn errors of metabolism +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0018968,Rare genetic disease +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0007837,Rare genetic disease +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0018970,Rare inborn errors of metabolism +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0021154,Rare inborn errors of metabolism +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0021528,Rare inborn errors of metabolism +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0021154,Rare genetic disease +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0018959,Rare inborn errors of metabolism +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0021155,Rare genetic disease +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0009433,Rare inborn errors of metabolism +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0021303,Rare inborn errors of metabolism +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0007837,Rare inborn errors of metabolism +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0018971,Rare inborn errors of metabolism +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0018948,Rare inborn errors of metabolism +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0018970,Rare genetic disease +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0006447,Rare inborn errors of metabolism +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0018971,Rare genetic disease +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0021156,Rare genetic disease +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0018968,Rare inborn errors of metabolism +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0018964,Rare genetic disease +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0006447,Rare genetic disease +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0018963,Rare inborn errors of metabolism +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0021156,Rare inborn errors of metabolism +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0021155,Rare inborn errors of metabolism +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0021622,Rare genetic disease +GARD:0018937,GARD:0022508,GARD:0022508,GARD:0018953,Rare inborn errors of metabolism +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0018953,Rare genetic disease +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0009433,Rare genetic disease +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0018959,Rare genetic disease +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0018963,Rare genetic disease +GARD:0018937,GARD:0022531,GARD:0022508,GARD:0021528,Rare genetic disease +GARD:0018938,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0018938,GARD:0022531,GARD:0018979,,Rare genetic disease +GARD:0018938,GARD:0022508,GARD:0018979,,Rare inborn errors of metabolism +GARD:0018938,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0018938,GARD:0022524,GARD:0018979,,Rare neurologic disease +GARD:0018939,GARD:0022520,GARD:0021260,,Rare ophthalmic disorder +GARD:0018940,GARD:0022525,GARD:0020257,,Rare systemic or rheumatologic disease +GARD:0018940,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0018941,GARD:0022524,GARD:0020375,,Rare neurologic disease +GARD:0018941,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0018942,GARD:0022536,GARD:0013337,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0018942,GARD:0022517,GARD:0013337,,Rare respiratory disease +GARD:0018943,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0018943,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0018943,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0018943,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0018943,GARD:0022531,GARD:0020302,,Rare genetic disease +GARD:0018943,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0018944,GARD:0022524,GARD:0020612,,Rare neurologic disease +GARD:0018944,GARD:0022524,GARD:0011979,,Rare neurologic disease +GARD:0018945,GARD:0022508,GARD:0009433,GARD:0010761,Rare inborn errors of metabolism +GARD:0018945,GARD:0022531,GARD:0009433,GARD:0006522,Rare genetic disease +GARD:0018945,GARD:0022531,GARD:0009433,GARD:0010716,Rare genetic disease +GARD:0018945,GARD:0022508,GARD:0009433,GARD:0021304,Rare inborn errors of metabolism +GARD:0018945,GARD:0022508,GARD:0009433,GARD:0006522,Rare inborn errors of metabolism +GARD:0018945,GARD:0022531,GARD:0009433,GARD:0010761,Rare genetic disease +GARD:0018945,GARD:0022508,GARD:0009433,GARD:0010716,Rare inborn errors of metabolism +GARD:0018945,GARD:0022531,GARD:0009433,GARD:0021304,Rare genetic disease +GARD:0018946,GARD:0022531,GARD:0022508,GARD:0018973,Rare genetic disease +GARD:0018946,GARD:0022531,GARD:0022508,GARD:0021312,Rare genetic disease +GARD:0018946,GARD:0022531,GARD:0022508,GARD:0021306,Rare genetic disease +GARD:0018946,GARD:0022531,GARD:0022508,GARD:0021313,Rare genetic disease +GARD:0018946,GARD:0022508,GARD:0022508,GARD:0021308,Rare inborn errors of metabolism +GARD:0018946,GARD:0022508,GARD:0022508,GARD:0018958,Rare inborn errors of metabolism +GARD:0018946,GARD:0022508,GARD:0022508,GARD:0021312,Rare inborn errors of metabolism +GARD:0018946,GARD:0022531,GARD:0022508,GARD:0021841,Rare genetic disease +GARD:0018946,GARD:0022508,GARD:0022508,GARD:0018956,Rare inborn errors of metabolism +GARD:0018946,GARD:0022508,GARD:0022508,GARD:0021306,Rare inborn errors of metabolism +GARD:0018946,GARD:0022508,GARD:0022508,GARD:0018973,Rare inborn errors of metabolism +GARD:0018946,GARD:0022508,GARD:0022508,GARD:0021313,Rare inborn errors of metabolism +GARD:0018946,GARD:0022531,GARD:0022508,GARD:0018958,Rare genetic disease +GARD:0018946,GARD:0022531,GARD:0022508,GARD:0018956,Rare genetic disease +GARD:0018946,GARD:0022508,GARD:0022508,GARD:0021307,Rare inborn errors of metabolism +GARD:0018946,GARD:0022531,GARD:0022508,GARD:0021307,Rare genetic disease +GARD:0018946,GARD:0022531,GARD:0022508,GARD:0021308,Rare genetic disease +GARD:0018946,GARD:0022508,GARD:0022508,GARD:0021841,Rare inborn errors of metabolism +GARD:0018947,GARD:0022531,GARD:0009433,GARD:0005662,Rare genetic disease +GARD:0018947,GARD:0022531,GARD:0009433,GARD:0013202,Rare genetic disease +GARD:0018947,GARD:0022531,GARD:0009433,GARD:0010223,Rare genetic disease +GARD:0018947,GARD:0022508,GARD:0009433,GARD:0010223,Rare inborn errors of metabolism +GARD:0018947,GARD:0022531,GARD:0009433,GARD:0003824,Rare genetic disease +GARD:0018947,GARD:0022508,GARD:0009433,GARD:0012966,Rare inborn errors of metabolism +GARD:0018947,GARD:0022508,GARD:0009433,GARD:0010322,Rare inborn errors of metabolism +GARD:0018947,GARD:0022508,GARD:0009433,GARD:0010818,Rare inborn errors of metabolism +GARD:0018947,GARD:0022508,GARD:0009433,GARD:0013163,Rare inborn errors of metabolism +GARD:0018947,GARD:0022531,GARD:0009433,GARD:0010818,Rare genetic disease +GARD:0018947,GARD:0022531,GARD:0009433,GARD:0000872,Rare genetic disease +GARD:0018947,GARD:0022508,GARD:0009433,GARD:0010954,Rare inborn errors of metabolism +GARD:0018947,GARD:0022531,GARD:0009433,GARD:0012966,Rare genetic disease +GARD:0018947,GARD:0022508,GARD:0009433,GARD:0000465,Rare inborn errors of metabolism +GARD:0018947,GARD:0022531,GARD:0009433,GARD:0000465,Rare genetic disease +GARD:0018947,GARD:0022508,GARD:0009433,GARD:0008387,Rare inborn errors of metabolism +GARD:0018947,GARD:0022508,GARD:0009433,GARD:0013202,Rare inborn errors of metabolism +GARD:0018947,GARD:0022531,GARD:0009433,GARD:0008387,Rare genetic disease +GARD:0018947,GARD:0022508,GARD:0009433,GARD:0003579,Rare inborn errors of metabolism +GARD:0018947,GARD:0022531,GARD:0009433,GARD:0000467,Rare genetic disease +GARD:0018947,GARD:0022508,GARD:0009433,GARD:0000467,Rare inborn errors of metabolism +GARD:0018947,GARD:0022531,GARD:0009433,GARD:0003579,Rare genetic disease +GARD:0018947,GARD:0022531,GARD:0009433,GARD:0013163,Rare genetic disease +GARD:0018947,GARD:0022531,GARD:0009433,GARD:0010954,Rare genetic disease +GARD:0018947,GARD:0022508,GARD:0009433,GARD:0005662,Rare inborn errors of metabolism +GARD:0018947,GARD:0022508,GARD:0009433,GARD:0000872,Rare inborn errors of metabolism +GARD:0018947,GARD:0022508,GARD:0009433,GARD:0003824,Rare inborn errors of metabolism +GARD:0018947,GARD:0022531,GARD:0009433,GARD:0010322,Rare genetic disease +GARD:0018948,GARD:0022508,GARD:0018937,GARD:0006237,Rare inborn errors of metabolism +GARD:0018948,GARD:0022508,GARD:0018937,GARD:0005939,Rare inborn errors of metabolism +GARD:0018948,GARD:0022531,GARD:0018937,GARD:0017556,Rare genetic disease +GARD:0018948,GARD:0022508,GARD:0018937,GARD:0017556,Rare inborn errors of metabolism +GARD:0018948,GARD:0022508,GARD:0018937,GARD:0020634,Rare inborn errors of metabolism +GARD:0018948,GARD:0022531,GARD:0018937,GARD:0021305,Rare genetic disease +GARD:0018948,GARD:0022508,GARD:0018937,GARD:0021305,Rare inborn errors of metabolism +GARD:0018948,GARD:0022508,GARD:0018937,GARD:0003335,Rare inborn errors of metabolism +GARD:0018948,GARD:0022531,GARD:0018937,GARD:0005939,Rare genetic disease +GARD:0018948,GARD:0022531,GARD:0018937,GARD:0006237,Rare genetic disease +GARD:0018948,GARD:0022508,GARD:0018937,GARD:0003295,Rare inborn errors of metabolism +GARD:0018948,GARD:0022531,GARD:0018937,GARD:0001855,Rare genetic disease +GARD:0018948,GARD:0022508,GARD:0018937,GARD:0001855,Rare inborn errors of metabolism +GARD:0018948,GARD:0022531,GARD:0018937,GARD:0003295,Rare genetic disease +GARD:0018948,GARD:0022531,GARD:0018937,GARD:0020634,Rare genetic disease +GARD:0018948,GARD:0022531,GARD:0018937,GARD:0003335,Rare genetic disease +GARD:0018949,GARD:0022508,GARD:0018981,GARD:0019046,Rare inborn errors of metabolism +GARD:0018949,GARD:0022508,GARD:0018981,GARD:0020048,Rare inborn errors of metabolism +GARD:0018949,GARD:0022531,GARD:0018981,GARD:0020048,Rare genetic disease +GARD:0018949,GARD:0022531,GARD:0018981,GARD:0020441,Rare genetic disease +GARD:0018949,GARD:0022508,GARD:0018981,GARD:0020441,Rare inborn errors of metabolism +GARD:0018950,GARD:0022531,GARD:0018976,GARD:0021351,Rare genetic disease +GARD:0018950,GARD:0022508,GARD:0018976,GARD:0021351,Rare inborn errors of metabolism +GARD:0018950,GARD:0022508,GARD:0018976,GARD:0013594,Rare inborn errors of metabolism +GARD:0018950,GARD:0022508,GARD:0018976,GARD:0021348,Rare inborn errors of metabolism +GARD:0018950,GARD:0022531,GARD:0018976,GARD:0003531,Rare genetic disease +GARD:0018950,GARD:0022508,GARD:0018976,GARD:0003531,Rare inborn errors of metabolism +GARD:0018950,GARD:0022531,GARD:0018976,GARD:0013594,Rare genetic disease +GARD:0018950,GARD:0022531,GARD:0018976,GARD:0021348,Rare genetic disease +GARD:0018951,GARD:0022508,GARD:0021350,GARD:0012623,Rare inborn errors of metabolism +GARD:0018951,GARD:0022508,GARD:0021350,GARD:0016537,Rare inborn errors of metabolism +GARD:0018951,GARD:0022508,GARD:0021350,GARD:0003024,Rare inborn errors of metabolism +GARD:0018951,GARD:0022531,GARD:0021350,GARD:0004522,Rare genetic disease +GARD:0018951,GARD:0022531,GARD:0021350,GARD:0003579,Rare genetic disease +GARD:0018951,GARD:0022531,GARD:0021350,GARD:0016537,Rare genetic disease +GARD:0018951,GARD:0022531,GARD:0021350,GARD:0003024,Rare genetic disease +GARD:0018951,GARD:0022508,GARD:0021350,GARD:0003579,Rare inborn errors of metabolism +GARD:0018951,GARD:0022508,GARD:0021350,GARD:0016481,Rare inborn errors of metabolism +GARD:0018951,GARD:0022508,GARD:0021350,GARD:0004522,Rare inborn errors of metabolism +GARD:0018951,GARD:0022531,GARD:0021350,GARD:0012623,Rare genetic disease +GARD:0018951,GARD:0022531,GARD:0021350,GARD:0012338,Rare genetic disease +GARD:0018951,GARD:0022531,GARD:0021350,GARD:0007006,Rare genetic disease +GARD:0018951,GARD:0022531,GARD:0021350,GARD:0016481,Rare genetic disease +GARD:0018951,GARD:0022508,GARD:0021350,GARD:0007006,Rare inborn errors of metabolism +GARD:0018951,GARD:0022508,GARD:0021350,GARD:0012338,Rare inborn errors of metabolism +GARD:0018952,GARD:0022531,GARD:0018972,GARD:0001608,Rare genetic disease +GARD:0018952,GARD:0022531,GARD:0018972,GARD:0010323,Rare genetic disease +GARD:0018952,GARD:0022508,GARD:0018972,GARD:0010323,Rare inborn errors of metabolism +GARD:0018952,GARD:0022531,GARD:0018972,GARD:0002578,Rare genetic disease +GARD:0018952,GARD:0022524,GARD:0020554,GARD:0002578,Rare neurologic disease +GARD:0018952,GARD:0022531,GARD:0020554,GARD:0010323,Rare genetic disease +GARD:0018952,GARD:0022531,GARD:0020554,GARD:0001608,Rare genetic disease +GARD:0018952,GARD:0022531,GARD:0020554,GARD:0002578,Rare genetic disease +GARD:0018952,GARD:0022524,GARD:0020554,GARD:0010323,Rare neurologic disease +GARD:0018952,GARD:0022508,GARD:0018972,GARD:0001608,Rare inborn errors of metabolism +GARD:0018952,GARD:0022508,GARD:0018972,GARD:0002578,Rare inborn errors of metabolism +GARD:0018952,GARD:0022524,GARD:0020554,GARD:0001608,Rare neurologic disease +GARD:0018953,GARD:0022531,GARD:0018937,GARD:0016537,Rare genetic disease +GARD:0018953,GARD:0022508,GARD:0018937,GARD:0006667,Rare inborn errors of metabolism +GARD:0018953,GARD:0022531,GARD:0018937,GARD:0013177,Rare genetic disease +GARD:0018953,GARD:0022508,GARD:0018937,GARD:0016549,Rare inborn errors of metabolism +GARD:0018953,GARD:0022508,GARD:0018937,GARD:0008397,Rare inborn errors of metabolism +GARD:0018953,GARD:0022508,GARD:0018937,GARD:0017996,Rare inborn errors of metabolism +GARD:0018953,GARD:0022508,GARD:0018937,GARD:0013177,Rare inborn errors of metabolism +GARD:0018953,GARD:0022531,GARD:0018937,GARD:0000654,Rare genetic disease +GARD:0018953,GARD:0022531,GARD:0018937,GARD:0006667,Rare genetic disease +GARD:0018953,GARD:0022531,GARD:0018937,GARD:0008397,Rare genetic disease +GARD:0018953,GARD:0022531,GARD:0018937,GARD:0022468,Rare genetic disease +GARD:0018953,GARD:0022508,GARD:0018937,GARD:0016537,Rare inborn errors of metabolism +GARD:0018953,GARD:0022531,GARD:0018937,GARD:0002428,Rare genetic disease +GARD:0018953,GARD:0022508,GARD:0018937,GARD:0000654,Rare inborn errors of metabolism +GARD:0018953,GARD:0022508,GARD:0018937,GARD:0002428,Rare inborn errors of metabolism +GARD:0018953,GARD:0022531,GARD:0018937,GARD:0017996,Rare genetic disease +GARD:0018953,GARD:0022508,GARD:0018937,GARD:0017321,Rare inborn errors of metabolism +GARD:0018953,GARD:0022508,GARD:0018937,GARD:0022468,Rare inborn errors of metabolism +GARD:0018953,GARD:0022531,GARD:0018937,GARD:0016549,Rare genetic disease +GARD:0018953,GARD:0022531,GARD:0018937,GARD:0017321,Rare genetic disease +GARD:0018953,GARD:0022508,GARD:0018937,GARD:0010764,Rare inborn errors of metabolism +GARD:0018953,GARD:0022531,GARD:0018937,GARD:0010764,Rare genetic disease +GARD:0018954,GARD:0022531,GARD:0018972,GARD:0021320,Rare genetic disease +GARD:0018954,GARD:0022508,GARD:0018972,GARD:0021317,Rare inborn errors of metabolism +GARD:0018954,GARD:0022531,GARD:0018972,GARD:0021821,Rare genetic disease +GARD:0018954,GARD:0022508,GARD:0018972,GARD:0021321,Rare inborn errors of metabolism +GARD:0018954,GARD:0022531,GARD:0018972,GARD:0021317,Rare genetic disease +GARD:0018954,GARD:0022508,GARD:0018972,GARD:0018960,Rare inborn errors of metabolism +GARD:0018954,GARD:0022508,GARD:0018972,GARD:0021320,Rare inborn errors of metabolism +GARD:0018954,GARD:0022508,GARD:0018972,GARD:0021821,Rare inborn errors of metabolism +GARD:0018954,GARD:0022531,GARD:0018972,GARD:0021321,Rare genetic disease +GARD:0018954,GARD:0022531,GARD:0018972,GARD:0018960,Rare genetic disease +GARD:0018955,GARD:0022531,GARD:0018976,GARD:0007695,Rare genetic disease +GARD:0018955,GARD:0022531,GARD:0018976,GARD:0000194,Rare genetic disease +GARD:0018955,GARD:0022508,GARD:0018976,GARD:0000194,Rare inborn errors of metabolism +GARD:0018955,GARD:0022508,GARD:0018976,GARD:0007695,Rare inborn errors of metabolism +GARD:0018956,GARD:0022508,GARD:0018946,GARD:0016613,Rare inborn errors of metabolism +GARD:0018956,GARD:0022531,GARD:0018946,GARD:0013201,Rare genetic disease +GARD:0018956,GARD:0022508,GARD:0018946,GARD:0013201,Rare inborn errors of metabolism +GARD:0018956,GARD:0022508,GARD:0018946,GARD:0007512,Rare inborn errors of metabolism +GARD:0018956,GARD:0022531,GARD:0018946,GARD:0016613,Rare genetic disease +GARD:0018956,GARD:0022531,GARD:0018946,GARD:0002400,Rare genetic disease +GARD:0018956,GARD:0022508,GARD:0018946,GARD:0002400,Rare inborn errors of metabolism +GARD:0018956,GARD:0022531,GARD:0018946,GARD:0007512,Rare genetic disease +GARD:0018957,GARD:0022508,GARD:0021313,GARD:0002268,Rare inborn errors of metabolism +GARD:0018957,GARD:0022531,GARD:0021313,GARD:0009265,Rare genetic disease +GARD:0018957,GARD:0022531,GARD:0021313,GARD:0006521,Rare genetic disease +GARD:0018957,GARD:0022531,GARD:0021313,GARD:0007548,Rare genetic disease +GARD:0018957,GARD:0022508,GARD:0021313,GARD:0009265,Rare inborn errors of metabolism +GARD:0018957,GARD:0022508,GARD:0021313,GARD:0007548,Rare inborn errors of metabolism +GARD:0018957,GARD:0022531,GARD:0021313,GARD:0002268,Rare genetic disease +GARD:0018957,GARD:0022508,GARD:0021313,GARD:0006521,Rare inborn errors of metabolism +GARD:0018958,GARD:0022508,GARD:0018946,GARD:0021311,Rare inborn errors of metabolism +GARD:0018958,GARD:0022531,GARD:0018946,GARD:0021311,Rare genetic disease +GARD:0018959,GARD:0022508,GARD:0018937,GARD:0008539,Rare inborn errors of metabolism +GARD:0018959,GARD:0022531,GARD:0018937,GARD:0002708,Rare genetic disease +GARD:0018959,GARD:0022508,GARD:0018937,GARD:0006661,Rare inborn errors of metabolism +GARD:0018959,GARD:0022531,GARD:0018937,GARD:0006661,Rare genetic disease +GARD:0018959,GARD:0022531,GARD:0018937,GARD:0008539,Rare genetic disease +GARD:0018959,GARD:0022508,GARD:0018937,GARD:0002708,Rare inborn errors of metabolism +GARD:0018960,GARD:0022531,GARD:0018954,GARD:0000872,Rare genetic disease +GARD:0018960,GARD:0022531,GARD:0018954,GARD:0004774,Rare genetic disease +GARD:0018960,GARD:0022508,GARD:0018954,GARD:0000872,Rare inborn errors of metabolism +GARD:0018960,GARD:0022508,GARD:0018954,GARD:0004774,Rare inborn errors of metabolism +GARD:0018961,GARD:0022508,GARD:0018937,GARD:0021158,Rare inborn errors of metabolism +GARD:0018961,GARD:0022531,GARD:0018937,GARD:0021157,Rare genetic disease +GARD:0018961,GARD:0022531,GARD:0018937,GARD:0021158,Rare genetic disease +GARD:0018961,GARD:0022508,GARD:0018937,GARD:0021157,Rare inborn errors of metabolism +GARD:0018962,GARD:0022531,GARD:0021841,GARD:0018652,Rare genetic disease +GARD:0018962,GARD:0022531,GARD:0021841,GARD:0017894,Rare genetic disease +GARD:0018962,GARD:0022531,GARD:0021841,GARD:0010445,Rare genetic disease +GARD:0018962,GARD:0022508,GARD:0021841,GARD:0018652,Rare inborn errors of metabolism +GARD:0018962,GARD:0022508,GARD:0021841,GARD:0010445,Rare inborn errors of metabolism +GARD:0018962,GARD:0022508,GARD:0021841,GARD:0017894,Rare inborn errors of metabolism +GARD:0018962,GARD:0022508,GARD:0021841,GARD:0017747,Rare inborn errors of metabolism +GARD:0018962,GARD:0022531,GARD:0021841,GARD:0017747,Rare genetic disease +GARD:0018963,GARD:0022531,GARD:0018937,GARD:0006001,Rare genetic disease +GARD:0018963,GARD:0022531,GARD:0018937,GARD:0007473,Rare genetic disease +GARD:0018963,GARD:0022508,GARD:0018937,GARD:0007473,Rare inborn errors of metabolism +GARD:0018963,GARD:0022508,GARD:0018937,GARD:0006001,Rare inborn errors of metabolism +GARD:0018964,GARD:0022508,GARD:0018937,GARD:0021127,Rare inborn errors of metabolism +GARD:0018964,GARD:0022531,GARD:0018937,GARD:0021127,Rare genetic disease +GARD:0018964,GARD:0022531,GARD:0018937,GARD:0021126,Rare genetic disease +GARD:0018964,GARD:0022508,GARD:0018937,GARD:0021126,Rare inborn errors of metabolism +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0008756,Rare genetic disease +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0021752,Rare genetic disease +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0000550,Rare inborn errors of metabolism +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0000547,Rare genetic disease +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0013781,Rare genetic disease +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0000546,Rare genetic disease +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0004606,Rare genetic disease +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0004606,Rare inborn errors of metabolism +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0008756,Rare inborn errors of metabolism +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0017806,Rare inborn errors of metabolism +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0000114,Rare genetic disease +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0004337,Rare genetic disease +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0013781,Rare inborn errors of metabolism +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0005748,Rare genetic disease +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0002943,Rare genetic disease +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0000546,Rare inborn errors of metabolism +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0000547,Rare inborn errors of metabolism +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0000114,Rare inborn errors of metabolism +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0006274,Rare genetic disease +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0000550,Rare genetic disease +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0017806,Rare genetic disease +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0019669,Rare inborn errors of metabolism +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0005748,Rare inborn errors of metabolism +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0016628,Rare genetic disease +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0013644,Rare genetic disease +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0016628,Rare inborn errors of metabolism +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0013644,Rare inborn errors of metabolism +GARD:0018965,GARD:0022531,GARD:0018980,GARD:0019669,Rare genetic disease +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0002943,Rare inborn errors of metabolism +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0004337,Rare inborn errors of metabolism +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0006274,Rare inborn errors of metabolism +GARD:0018965,GARD:0022508,GARD:0018980,GARD:0021752,Rare inborn errors of metabolism +GARD:0018966,GARD:0022508,GARD:0018976,GARD:0009298,Rare inborn errors of metabolism +GARD:0018966,GARD:0022531,GARD:0018976,GARD:0009298,Rare genetic disease +GARD:0018966,GARD:0022508,GARD:0018976,GARD:0010730,Rare inborn errors of metabolism +GARD:0018966,GARD:0022531,GARD:0018976,GARD:0010730,Rare genetic disease +GARD:0018967,GARD:0022531,GARD:0018980,GARD:0000019,Rare genetic disease +GARD:0018967,GARD:0022508,GARD:0018980,GARD:0012347,Rare inborn errors of metabolism +GARD:0018967,GARD:0022508,GARD:0018980,GARD:0016669,Rare inborn errors of metabolism +GARD:0018967,GARD:0022508,GARD:0018980,GARD:0013621,Rare inborn errors of metabolism +GARD:0018967,GARD:0022508,GARD:0018980,GARD:0017228,Rare inborn errors of metabolism +GARD:0018967,GARD:0022508,GARD:0018980,GARD:0005429,Rare inborn errors of metabolism +GARD:0018967,GARD:0022508,GARD:0018980,GARD:0000019,Rare inborn errors of metabolism +GARD:0018967,GARD:0022531,GARD:0018980,GARD:0009920,Rare genetic disease +GARD:0018967,GARD:0022531,GARD:0018980,GARD:0005429,Rare genetic disease +GARD:0018967,GARD:0022531,GARD:0018980,GARD:0013621,Rare genetic disease +GARD:0018967,GARD:0022531,GARD:0018980,GARD:0016669,Rare genetic disease +GARD:0018967,GARD:0022508,GARD:0018980,GARD:0010267,Rare inborn errors of metabolism +GARD:0018967,GARD:0022531,GARD:0018980,GARD:0017228,Rare genetic disease +GARD:0018967,GARD:0022531,GARD:0018980,GARD:0010267,Rare genetic disease +GARD:0018967,GARD:0022508,GARD:0018980,GARD:0016635,Rare inborn errors of metabolism +GARD:0018967,GARD:0022508,GARD:0018980,GARD:0009920,Rare inborn errors of metabolism +GARD:0018967,GARD:0022531,GARD:0018980,GARD:0016635,Rare genetic disease +GARD:0018967,GARD:0022531,GARD:0018980,GARD:0012347,Rare genetic disease +GARD:0018968,GARD:0022531,GARD:0018937,GARD:0017185,Rare genetic disease +GARD:0018968,GARD:0022531,GARD:0018937,GARD:0007219,Rare genetic disease +GARD:0018968,GARD:0022508,GARD:0018937,GARD:0018815,Rare inborn errors of metabolism +GARD:0018968,GARD:0022508,GARD:0018937,GARD:0007219,Rare inborn errors of metabolism +GARD:0018968,GARD:0022531,GARD:0018937,GARD:0018815,Rare genetic disease +GARD:0018968,GARD:0022508,GARD:0018937,GARD:0017185,Rare inborn errors of metabolism +GARD:0018968,GARD:0022508,GARD:0018937,GARD:0000158,Rare inborn errors of metabolism +GARD:0018968,GARD:0022531,GARD:0018937,GARD:0000158,Rare genetic disease +GARD:0018969,GARD:0022531,GARD:0019900,GARD:0017666,Rare genetic disease +GARD:0018969,GARD:0022513,GARD:0019900,GARD:0006189,Rare developmental defect during embryogenesis +GARD:0018969,GARD:0022531,GARD:0018981,GARD:0021315,Rare genetic disease +GARD:0018969,GARD:0022531,GARD:0019900,GARD:0006189,Rare genetic disease +GARD:0018969,GARD:0022513,GARD:0019900,GARD:0010283,Rare developmental defect during embryogenesis +GARD:0018969,GARD:0022508,GARD:0018981,GARD:0006189,Rare inborn errors of metabolism +GARD:0018969,GARD:0022531,GARD:0018981,GARD:0005683,Rare genetic disease +GARD:0018969,GARD:0022531,GARD:0018981,GARD:0010283,Rare genetic disease +GARD:0018969,GARD:0022531,GARD:0019900,GARD:0017886,Rare genetic disease +GARD:0018969,GARD:0022513,GARD:0019900,GARD:0005683,Rare developmental defect during embryogenesis +GARD:0018969,GARD:0022531,GARD:0018981,GARD:0008754,Rare genetic disease +GARD:0018969,GARD:0022531,GARD:0019900,GARD:0006039,Rare genetic disease +GARD:0018969,GARD:0022513,GARD:0019900,GARD:0017210,Rare developmental defect during embryogenesis +GARD:0018969,GARD:0022531,GARD:0019900,GARD:0005683,Rare genetic disease +GARD:0018969,GARD:0022508,GARD:0018981,GARD:0017210,Rare inborn errors of metabolism +GARD:0018969,GARD:0022513,GARD:0019900,GARD:0006039,Rare developmental defect during embryogenesis +GARD:0018969,GARD:0022508,GARD:0018981,GARD:0021315,Rare inborn errors of metabolism +GARD:0018969,GARD:0022531,GARD:0018981,GARD:0006039,Rare genetic disease +GARD:0018969,GARD:0022508,GARD:0018981,GARD:0017886,Rare inborn errors of metabolism +GARD:0018969,GARD:0022531,GARD:0019900,GARD:0021315,Rare genetic disease +GARD:0018969,GARD:0022531,GARD:0018981,GARD:0017666,Rare genetic disease +GARD:0018969,GARD:0022508,GARD:0018981,GARD:0008754,Rare inborn errors of metabolism +GARD:0018969,GARD:0022531,GARD:0019900,GARD:0008754,Rare genetic disease +GARD:0018969,GARD:0022531,GARD:0019900,GARD:0017210,Rare genetic disease +GARD:0018969,GARD:0022508,GARD:0018981,GARD:0009711,Rare inborn errors of metabolism +GARD:0018969,GARD:0022508,GARD:0018981,GARD:0010283,Rare inborn errors of metabolism +GARD:0018969,GARD:0022531,GARD:0018981,GARD:0017210,Rare genetic disease +GARD:0018969,GARD:0022508,GARD:0018981,GARD:0006039,Rare inborn errors of metabolism +GARD:0018969,GARD:0022513,GARD:0019900,GARD:0021315,Rare developmental defect during embryogenesis +GARD:0018969,GARD:0022531,GARD:0019900,GARD:0010283,Rare genetic disease +GARD:0018969,GARD:0022508,GARD:0018981,GARD:0017666,Rare inborn errors of metabolism +GARD:0018969,GARD:0022531,GARD:0018981,GARD:0017886,Rare genetic disease +GARD:0018969,GARD:0022513,GARD:0019900,GARD:0009711,Rare developmental defect during embryogenesis +GARD:0018969,GARD:0022531,GARD:0018981,GARD:0006189,Rare genetic disease +GARD:0018969,GARD:0022513,GARD:0019900,GARD:0017886,Rare developmental defect during embryogenesis +GARD:0018969,GARD:0022531,GARD:0019900,GARD:0009711,Rare genetic disease +GARD:0018969,GARD:0022513,GARD:0019900,GARD:0008754,Rare developmental defect during embryogenesis +GARD:0018969,GARD:0022513,GARD:0019900,GARD:0017666,Rare developmental defect during embryogenesis +GARD:0018969,GARD:0022508,GARD:0018981,GARD:0005683,Rare inborn errors of metabolism +GARD:0018969,GARD:0022531,GARD:0018981,GARD:0009711,Rare genetic disease +GARD:0018970,GARD:0022508,GARD:0018937,GARD:0005681,Rare inborn errors of metabolism +GARD:0018970,GARD:0022531,GARD:0018937,GARD:0016631,Rare genetic disease +GARD:0018970,GARD:0022531,GARD:0018937,GARD:0010099,Rare genetic disease +GARD:0018970,GARD:0022508,GARD:0018937,GARD:0016631,Rare inborn errors of metabolism +GARD:0018970,GARD:0022508,GARD:0018937,GARD:0010047,Rare inborn errors of metabolism +GARD:0018970,GARD:0022508,GARD:0018937,GARD:0010099,Rare inborn errors of metabolism +GARD:0018970,GARD:0022531,GARD:0018937,GARD:0005681,Rare genetic disease +GARD:0018970,GARD:0022531,GARD:0018937,GARD:0010047,Rare genetic disease +GARD:0018971,GARD:0022508,GARD:0018937,GARD:0003228,Rare inborn errors of metabolism +GARD:0018971,GARD:0022531,GARD:0018937,GARD:0013201,Rare genetic disease +GARD:0018971,GARD:0022508,GARD:0018937,GARD:0017322,Rare inborn errors of metabolism +GARD:0018971,GARD:0022531,GARD:0018937,GARD:0017322,Rare genetic disease +GARD:0018971,GARD:0022531,GARD:0018937,GARD:0003228,Rare genetic disease +GARD:0018971,GARD:0022531,GARD:0018937,GARD:0017389,Rare genetic disease +GARD:0018971,GARD:0022508,GARD:0018937,GARD:0013201,Rare inborn errors of metabolism +GARD:0018971,GARD:0022508,GARD:0018937,GARD:0017389,Rare inborn errors of metabolism +GARD:0018972,GARD:0022508,GARD:0022508,GARD:0020752,Rare inborn errors of metabolism +GARD:0018972,GARD:0022508,GARD:0022508,GARD:0020753,Rare inborn errors of metabolism +GARD:0018972,GARD:0022531,GARD:0022508,GARD:0018954,Rare genetic disease +GARD:0018972,GARD:0022531,GARD:0022508,GARD:0020753,Rare genetic disease +GARD:0018972,GARD:0022531,GARD:0022508,GARD:0020752,Rare genetic disease +GARD:0018972,GARD:0022508,GARD:0022508,GARD:0018887,Rare inborn errors of metabolism +GARD:0018972,GARD:0022508,GARD:0022508,GARD:0018954,Rare inborn errors of metabolism +GARD:0018972,GARD:0022508,GARD:0022508,GARD:0018952,Rare inborn errors of metabolism +GARD:0018972,GARD:0022531,GARD:0022508,GARD:0018887,Rare genetic disease +GARD:0018972,GARD:0022531,GARD:0022508,GARD:0018952,Rare genetic disease +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0021309,Rare genetic disease +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0009730,Rare genetic disease +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0005714,Rare genetic disease +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0006529,Rare inborn errors of metabolism +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0000600,Rare genetic disease +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0009964,Rare genetic disease +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0004329,Rare genetic disease +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0006529,Rare genetic disease +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0002268,Rare inborn errors of metabolism +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0003159,Rare genetic disease +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0009730,Rare inborn errors of metabolism +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0017793,Rare inborn errors of metabolism +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0003159,Rare inborn errors of metabolism +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0009442,Rare inborn errors of metabolism +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0017793,Rare genetic disease +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0017643,Rare inborn errors of metabolism +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0005714,Rare inborn errors of metabolism +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0009964,Rare inborn errors of metabolism +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0002125,Rare inborn errors of metabolism +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0002520,Rare genetic disease +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0004329,Rare inborn errors of metabolism +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0018691,Rare genetic disease +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0006528,Rare inborn errors of metabolism +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0002520,Rare inborn errors of metabolism +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0005686,Rare inborn errors of metabolism +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0007389,Rare genetic disease +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0009442,Rare genetic disease +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0006528,Rare genetic disease +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0021309,Rare inborn errors of metabolism +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0002268,Rare genetic disease +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0018691,Rare inborn errors of metabolism +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0016523,Rare genetic disease +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0005686,Rare genetic disease +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0017254,Rare inborn errors of metabolism +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0017254,Rare genetic disease +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0002125,Rare genetic disease +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0016523,Rare inborn errors of metabolism +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0017643,Rare genetic disease +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0010728,Rare inborn errors of metabolism +GARD:0018973,GARD:0022531,GARD:0018946,GARD:0010728,Rare genetic disease +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0007389,Rare inborn errors of metabolism +GARD:0018973,GARD:0022508,GARD:0018946,GARD:0000600,Rare inborn errors of metabolism +GARD:0018974,GARD:0022531,GARD:0018884,GARD:0006236,Rare genetic disease 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disease +GARD:0018975,GARD:0022531,GARD:0019900,GARD:0000094,Rare genetic disease +GARD:0018975,GARD:0022508,GARD:0010670,GARD:0003806,Rare inborn errors of metabolism +GARD:0018975,GARD:0022508,GARD:0010670,GARD:0006749,Rare inborn errors of metabolism +GARD:0018976,GARD:0022508,GARD:0022508,GARD:0018979,Rare inborn errors of metabolism +GARD:0018976,GARD:0022531,GARD:0022508,GARD:0018979,Rare genetic disease +GARD:0018976,GARD:0022508,GARD:0022508,GARD:0018955,Rare inborn errors of metabolism +GARD:0018976,GARD:0022531,GARD:0022508,GARD:0018955,Rare genetic disease +GARD:0018976,GARD:0022531,GARD:0022508,GARD:0018966,Rare genetic disease +GARD:0018976,GARD:0022508,GARD:0022508,GARD:0018950,Rare inborn errors of metabolism +GARD:0018976,GARD:0022531,GARD:0022508,GARD:0018950,Rare genetic disease +GARD:0018976,GARD:0022508,GARD:0022508,GARD:0018966,Rare inborn errors of metabolism +GARD:0018977,GARD:0022508,GARD:0010670,GARD:0003953,Rare inborn errors of metabolism +GARD:0018977,GARD:0022531,GARD:0019900,GARD:0021331,Rare genetic disease +GARD:0018977,GARD:0022531,GARD:0010670,GARD:0006968,Rare genetic disease +GARD:0018977,GARD:0022531,GARD:0010670,GARD:0005854,Rare genetic disease +GARD:0018977,GARD:0022531,GARD:0019900,GARD:0006473,Rare genetic disease +GARD:0018977,GARD:0022508,GARD:0010670,GARD:0005854,Rare inborn errors of metabolism +GARD:0018977,GARD:0022508,GARD:0010670,GARD:0006473,Rare inborn errors of metabolism +GARD:0018977,GARD:0022531,GARD:0019900,GARD:0016621,Rare genetic disease +GARD:0018977,GARD:0022508,GARD:0010670,GARD:0006968,Rare inborn errors of metabolism +GARD:0018977,GARD:0022531,GARD:0010670,GARD:0006473,Rare genetic disease +GARD:0018977,GARD:0022531,GARD:0019900,GARD:0006968,Rare genetic disease +GARD:0018977,GARD:0022531,GARD:0019900,GARD:0003953,Rare genetic disease +GARD:0018977,GARD:0022531,GARD:0010670,GARD:0016621,Rare genetic disease +GARD:0018977,GARD:0022508,GARD:0010670,GARD:0016621,Rare inborn errors of metabolism +GARD:0018977,GARD:0022531,GARD:0019900,GARD:0000869,Rare genetic disease +GARD:0018977,GARD:0022508,GARD:0010670,GARD:0021331,Rare inborn errors of metabolism +GARD:0018977,GARD:0022531,GARD:0019900,GARD:0005854,Rare genetic disease +GARD:0018977,GARD:0022508,GARD:0010670,GARD:0000869,Rare inborn errors of metabolism +GARD:0018977,GARD:0022531,GARD:0010670,GARD:0021331,Rare genetic disease +GARD:0018977,GARD:0022531,GARD:0010670,GARD:0000869,Rare genetic disease +GARD:0018977,GARD:0022531,GARD:0010670,GARD:0003953,Rare genetic disease +GARD:0018978,GARD:0022510,GARD:0019015,GARD:0005723,Rare skin disease +GARD:0018978,GARD:0022510,GARD:0019015,GARD:0005775,Rare skin disease +GARD:0018978,GARD:0022510,GARD:0019015,GARD:0003824,Rare skin disease +GARD:0018979,GARD:0022531,GARD:0020557,GARD:0018938,Rare genetic disease +GARD:0018979,GARD:0022524,GARD:0020557,GARD:0007482,Rare neurologic disease +GARD:0018979,GARD:0022524,GARD:0020557,GARD:0003129,Rare neurologic disease +GARD:0018979,GARD:0022531,GARD:0020557,GARD:0007482,Rare genetic disease +GARD:0018979,GARD:0022524,GARD:0020557,GARD:0018938,Rare neurologic disease +GARD:0018979,GARD:0022531,GARD:0018976,GARD:0003129,Rare genetic disease +GARD:0018979,GARD:0022531,GARD:0018976,GARD:0007482,Rare genetic disease +GARD:0018979,GARD:0022508,GARD:0018976,GARD:0007482,Rare inborn errors of metabolism +GARD:0018979,GARD:0022531,GARD:0018976,GARD:0018938,Rare genetic disease +GARD:0018979,GARD:0022508,GARD:0018976,GARD:0018938,Rare inborn errors of metabolism +GARD:0018979,GARD:0022531,GARD:0020557,GARD:0003129,Rare genetic disease +GARD:0018979,GARD:0022508,GARD:0018976,GARD:0003129,Rare inborn errors of metabolism +GARD:0018980,GARD:0022508,GARD:0022508,GARD:0018967,Rare inborn errors of metabolism +GARD:0018980,GARD:0022531,GARD:0022508,GARD:0018965,Rare genetic disease +GARD:0018980,GARD:0022531,GARD:0022508,GARD:0018967,Rare genetic disease +GARD:0018980,GARD:0022508,GARD:0022508,GARD:0018965,Rare inborn errors of metabolism +GARD:0018981,GARD:0022531,GARD:0021314,GARD:0018969,Rare genetic disease +GARD:0018981,GARD:0022531,GARD:0021314,GARD:0018949,Rare genetic disease +GARD:0018981,GARD:0022508,GARD:0021314,GARD:0018969,Rare inborn errors of metabolism +GARD:0018981,GARD:0022508,GARD:0021314,GARD:0018949,Rare inborn errors of metabolism +GARD:0018982,GARD:0022531,GARD:0007383,,Rare genetic disease +GARD:0018982,GARD:0022508,GARD:0007383,,Rare inborn errors of metabolism +GARD:0018982,GARD:0022524,GARD:0007383,,Rare neurologic disease +GARD:0018983,GARD:0022513,GARD:0021055,GARD:0017285,Rare developmental defect during embryogenesis +GARD:0018983,GARD:0022521,GARD:0021055,GARD:0017285,Rare endocrine disease +GARD:0018983,GARD:0022513,GARD:0021055,GARD:0017286,Rare developmental defect during embryogenesis +GARD:0018983,GARD:0022531,GARD:0021055,GARD:0017285,Rare genetic disease +GARD:0018983,GARD:0022531,GARD:0021055,GARD:0017286,Rare genetic disease +GARD:0018983,GARD:0022521,GARD:0021055,GARD:0017286,Rare endocrine disease +GARD:0018984,GARD:0022510,GARD:0022510,GARD:0012344,Rare skin disease +GARD:0018984,GARD:0022510,GARD:0022510,GARD:0020545,Rare skin disease +GARD:0018984,GARD:0022510,GARD:0022510,GARD:0018986,Rare skin disease +GARD:0018984,GARD:0022510,GARD:0022510,GARD:0018992,Rare skin disease +GARD:0018984,GARD:0022510,GARD:0022510,GARD:0018987,Rare skin disease +GARD:0018984,GARD:0022510,GARD:0022510,GARD:0018985,Rare skin disease +GARD:0018984,GARD:0022510,GARD:0022510,GARD:0018988,Rare skin disease +GARD:0018984,GARD:0022510,GARD:0022510,GARD:0018989,Rare skin disease +GARD:0018984,GARD:0022510,GARD:0022510,GARD:0018990,Rare skin disease +GARD:0018985,GARD:0022510,GARD:0018984,GARD:0000476,Rare skin disease +GARD:0018985,GARD:0022510,GARD:0018984,GARD:0020261,Rare skin disease +GARD:0018986,GARD:0022510,GARD:0018984,GARD:0010923,Rare skin disease +GARD:0018986,GARD:0022510,GARD:0018984,GARD:0021950,Rare skin disease +GARD:0018986,GARD:0022510,GARD:0018984,GARD:0017072,Rare skin disease +GARD:0018986,GARD:0022510,GARD:0018984,GARD:0007401,Rare skin disease +GARD:0018986,GARD:0022510,GARD:0018984,GARD:0001722,Rare skin disease +GARD:0018986,GARD:0022510,GARD:0018984,GARD:0000059,Rare skin disease +GARD:0018987,GARD:0022510,GARD:0018984,GARD:0000125,Rare skin disease +GARD:0018987,GARD:0022510,GARD:0018984,GARD:0005453,Rare skin disease +GARD:0018987,GARD:0022510,GARD:0018984,GARD:0016707,Rare skin disease +GARD:0018987,GARD:0022510,GARD:0018984,GARD:0004603,Rare skin disease +GARD:0018988,GARD:0022510,GARD:0018984,GARD:0021294,Rare skin disease +GARD:0018988,GARD:0022510,GARD:0018984,GARD:0021289,Rare skin disease +GARD:0018988,GARD:0022510,GARD:0018984,GARD:0021297,Rare skin disease +GARD:0018988,GARD:0022531,GARD:0020260,GARD:0021294,Rare genetic disease +GARD:0018988,GARD:0022531,GARD:0020260,GARD:0021289,Rare genetic disease +GARD:0018988,GARD:0022531,GARD:0020260,GARD:0021297,Rare genetic disease +GARD:0018989,GARD:0022510,GARD:0018984,GARD:0016542,Rare skin disease +GARD:0018989,GARD:0022510,GARD:0018984,GARD:0004438,Rare skin disease +GARD:0018989,GARD:0022510,GARD:0018984,GARD:0010983,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0002824,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0009910,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0002336,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0021737,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0017039,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0006243,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0017886,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0020052,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0008275,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0000453,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0018899,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0017594,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0018694,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0017355,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0012820,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0021825,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0012819,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0018898,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0003956,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0021990,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0006559,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0003099,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0012991,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0009443,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0001038,Rare skin disease +GARD:0018990,GARD:0022510,GARD:0018984,GARD:0020619,Rare skin disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0012820,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0018694,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0002824,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0009910,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0017594,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0003099,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0009443,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0006243,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0001038,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0020052,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0008275,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0003956,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0021990,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0002336,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0017355,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0000453,Rare genetic disease +GARD:0018991,GARD:0022531,GARD:0020260,GARD:0012819,Rare genetic disease +GARD:0018992,GARD:0022531,GARD:0020260,GARD:0002150,Rare genetic disease +GARD:0018992,GARD:0022531,GARD:0020260,GARD:0002152,Rare genetic disease +GARD:0018992,GARD:0022510,GARD:0018984,GARD:0002152,Rare skin disease +GARD:0018992,GARD:0022531,GARD:0020260,GARD:0004391,Rare genetic disease +GARD:0018992,GARD:0022531,GARD:0020260,GARD:0010752,Rare genetic disease +GARD:0018992,GARD:0022510,GARD:0018984,GARD:0010752,Rare skin disease +GARD:0018992,GARD:0022510,GARD:0018984,GARD:0002150,Rare skin disease +GARD:0018992,GARD:0022510,GARD:0018984,GARD:0004391,Rare skin disease +GARD:0018993,GARD:0022510,GARD:0022510,GARD:0018994,Rare skin disease +GARD:0018993,GARD:0022510,GARD:0022510,GARD:0006317,Rare skin disease +GARD:0018993,GARD:0022510,GARD:0022510,GARD:0017984,Rare skin disease +GARD:0018993,GARD:0022510,GARD:0022510,GARD:0019002,Rare skin disease +GARD:0018993,GARD:0022510,GARD:0022510,GARD:0018999,Rare skin disease +GARD:0018994,GARD:0022510,GARD:0018993,GARD:0018996,Rare skin disease +GARD:0018994,GARD:0022510,GARD:0018993,GARD:0018995,Rare skin disease +GARD:0018994,GARD:0022510,GARD:0018993,GARD:0018997,Rare skin disease +GARD:0018994,GARD:0022510,GARD:0018993,GARD:0018998,Rare skin disease +GARD:0018994,GARD:0022510,GARD:0018993,GARD:0013167,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0010719,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0016789,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0000614,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0000612,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0009170,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0010886,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0010116,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0016987,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0004536,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0000613,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0000607,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0017776,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0003247,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0018713,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0016762,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0017758,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0002952,Rare skin disease +GARD:0018995,GARD:0022510,GARD:0018994,GARD:0017124,Rare skin disease 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genetic disease +GARD:0019017,GARD:0022510,GARD:0022510,GARD:0000049,Rare skin disease +GARD:0019017,GARD:0022531,GARD:0018877,GARD:0010989,Rare genetic disease +GARD:0019017,GARD:0022531,GARD:0018877,GARD:0000290,Rare genetic disease +GARD:0019017,GARD:0022531,GARD:0018877,GARD:0011008,Rare genetic disease +GARD:0019017,GARD:0022531,GARD:0018877,GARD:0017736,Rare genetic disease +GARD:0019017,GARD:0022531,GARD:0018877,GARD:0004494,Rare genetic disease +GARD:0019017,GARD:0022531,GARD:0018877,GARD:0006543,Rare genetic disease +GARD:0019017,GARD:0022510,GARD:0022510,GARD:0007885,Rare skin disease +GARD:0019017,GARD:0022531,GARD:0018877,GARD:0000288,Rare genetic disease +GARD:0019017,GARD:0022531,GARD:0018877,GARD:0007467,Rare genetic disease +GARD:0019017,GARD:0022510,GARD:0022510,GARD:0004276,Rare skin disease +GARD:0019017,GARD:0022510,GARD:0022510,GARD:0021555,Rare skin disease +GARD:0019017,GARD:0022531,GARD:0018877,GARD:0004497,Rare genetic disease +GARD:0019017,GARD:0022510,GARD:0022510,GARD:0002347,Rare skin disease +GARD:0019017,GARD:0022510,GARD:0022510,GARD:0007467,Rare skin disease +GARD:0019017,GARD:0022510,GARD:0022510,GARD:0000290,Rare skin disease +GARD:0019018,GARD:0022510,GARD:0022510,GARD:0010947,Rare skin disease +GARD:0019018,GARD:0022510,GARD:0022510,GARD:0009654,Rare skin disease +GARD:0019018,GARD:0022510,GARD:0022510,GARD:0021506,Rare skin disease +GARD:0019018,GARD:0022510,GARD:0022510,GARD:0017510,Rare skin disease +GARD:0019018,GARD:0022510,GARD:0022510,GARD:0017130,Rare skin disease +GARD:0019018,GARD:0022510,GARD:0022510,GARD:0000915,Rare skin disease +GARD:0019018,GARD:0022510,GARD:0022510,GARD:0004392,Rare skin disease +GARD:0019018,GARD:0022510,GARD:0022510,GARD:0005630,Rare skin disease +GARD:0019018,GARD:0022510,GARD:0022510,GARD:0007910,Rare skin disease +GARD:0019018,GARD:0022510,GARD:0022510,GARD:0019353,Rare skin disease +GARD:0019018,GARD:0022510,GARD:0022510,GARD:0010353,Rare skin disease +GARD:0019018,GARD:0022510,GARD:0022510,GARD:0004391,Rare skin disease +GARD:0019018,GARD:0022510,GARD:0022510,GARD:0006569,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0006035,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0006357,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0022392,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0005427,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0013587,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0006878,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0010011,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0001077,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0007895,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0022467,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0004483,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0006100,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0006800,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0022300,Rare skin disease +GARD:0019019,GARD:0022510,GARD:0022510,GARD:0017369,Rare skin disease +GARD:0019020,GARD:0022535,GARD:0003259,,Rare neoplastic disease +GARD:0019020,GARD:0022510,GARD:0003259,,Rare skin disease +GARD:0019021,GARD:0022510,GARD:0019028,,Rare skin disease +GARD:0019022,GARD:0022510,GARD:0018833,,Rare skin disease +GARD:0019023,GARD:0022510,GARD:0004312,,Rare skin disease +GARD:0019023,GARD:0022520,GARD:0004312,,Rare ophthalmic disorder +GARD:0019023,GARD:0022531,GARD:0004312,,Rare genetic disease +GARD:0019023,GARD:0022513,GARD:0004312,,Rare developmental defect during embryogenesis +GARD:0019024,GARD:0022510,GARD:0004312,,Rare skin disease +GARD:0019024,GARD:0022513,GARD:0004312,,Rare developmental defect during embryogenesis +GARD:0019024,GARD:0022520,GARD:0004312,,Rare ophthalmic disorder +GARD:0019024,GARD:0022531,GARD:0004312,,Rare genetic disease +GARD:0019025,GARD:0022513,GARD:0004312,,Rare developmental defect during embryogenesis +GARD:0019025,GARD:0022520,GARD:0004312,,Rare ophthalmic disorder +GARD:0019025,GARD:0022510,GARD:0004312,,Rare skin disease +GARD:0019025,GARD:0022531,GARD:0004312,,Rare genetic disease +GARD:0019026,GARD:0022510,GARD:0018997,,Rare skin disease +GARD:0019026,GARD:0022531,GARD:0018997,,Rare genetic disease +GARD:0019027,GARD:0022531,GARD:0007383,,Rare genetic disease +GARD:0019027,GARD:0022508,GARD:0007383,,Rare inborn errors of metabolism +GARD:0019027,GARD:0022524,GARD:0007383,,Rare neurologic disease +GARD:0019028,GARD:0022510,GARD:0021400,GARD:0022242,Rare skin disease +GARD:0019028,GARD:0022510,GARD:0021400,GARD:0019021,Rare skin disease +GARD:0019028,GARD:0022510,GARD:0021400,GARD:0021892,Rare skin disease +GARD:0019028,GARD:0022510,GARD:0021400,GARD:0018858,Rare skin disease +GARD:0019028,GARD:0022510,GARD:0021400,GARD:0005972,Rare skin disease +GARD:0019028,GARD:0022510,GARD:0021400,GARD:0007355,Rare skin disease +GARD:0019028,GARD:0022510,GARD:0021400,GARD:0018833,Rare skin disease +GARD:0019028,GARD:0022510,GARD:0021400,GARD:0005913,Rare skin disease +GARD:0019028,GARD:0022510,GARD:0021400,GARD:0006497,Rare skin disease +GARD:0019028,GARD:0022510,GARD:0021400,GARD:0006360,Rare skin disease +GARD:0019028,GARD:0022510,GARD:0021400,GARD:0018834,Rare skin disease +GARD:0019028,GARD:0022510,GARD:0021400,GARD:0001917,Rare skin disease +GARD:0019029,GARD:0022532,GARD:0022532,GARD:0020063,Rare urogenital disease +GARD:0019029,GARD:0022532,GARD:0022532,GARD:0020064,Rare urogenital disease +GARD:0019029,GARD:0022513,GARD:0022513,GARD:0020064,Rare developmental defect during embryogenesis +GARD:0019029,GARD:0022513,GARD:0022513,GARD:0020063,Rare developmental defect during embryogenesis +GARD:0019030,GARD:0022509,GARD:0019828,,Rare infectious disease +GARD:0019031,GARD:0022509,GARD:0019828,,Rare infectious disease +GARD:0019032,GARD:0022509,GARD:0019829,GARD:0019725,Rare infectious disease +GARD:0019032,GARD:0022509,GARD:0019829,GARD:0019726,Rare infectious disease +GARD:0019033,GARD:0022509,GARD:0019829,,Rare infectious disease +GARD:0019034,GARD:0022509,GARD:0019828,,Rare infectious disease +GARD:0019035,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0019036,GARD:0022526,GARD:0020055,,Rare odontologic disease +GARD:0019037,GARD:0022514,GARD:0020199,,Rare gynecologic or obstetric disease +GARD:0019037,GARD:0022510,GARD:0020745,,Rare skin disease +GARD:0019038,GARD:0022524,GARD:0022460,,Rare neurologic disease +GARD:0019039,GARD:0022511,GARD:0018892,,Rare bone disease +GARD:0019039,GARD:0022535,GARD:0018892,,Rare neoplastic disease +GARD:0019040,GARD:0022524,GARD:0019433,,Rare neurologic disease +GARD:0019040,GARD:0022509,GARD:0019433,,Rare infectious disease +GARD:0019040,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0019041,GARD:0022524,GARD:0019433,,Rare neurologic disease +GARD:0019041,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0019041,GARD:0022509,GARD:0019433,,Rare infectious disease +GARD:0019042,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0019042,GARD:0022509,GARD:0019433,,Rare infectious disease +GARD:0019042,GARD:0022524,GARD:0019433,,Rare neurologic disease +GARD:0019043,GARD:0022509,GARD:0019433,,Rare infectious disease +GARD:0019043,GARD:0022524,GARD:0019433,,Rare neurologic disease +GARD:0019043,GARD:0022524,GARD:0019434,,Rare neurologic disease +GARD:0019043,GARD:0022524,GARD:0020092,,Rare neurologic disease +GARD:0019044,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0019044,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0019045,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0019045,GARD:0022531,GARD:0019013,,Rare genetic disease +GARD:0019045,GARD:0022535,GARD:0021913,,Rare neoplastic disease +GARD:0019045,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0019045,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0019045,GARD:0022513,GARD:0021913,,Rare developmental defect during embryogenesis +GARD:0019045,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0019045,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0019045,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0019045,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0019045,GARD:0022510,GARD:0019013,,Rare skin disease +GARD:0019045,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019045,GARD:0022527,GARD:0021913,,Rare circulatory system disease +GARD:0019046,GARD:0022508,GARD:0018949,,Rare inborn errors of metabolism +GARD:0019046,GARD:0022516,GARD:0019843,,Rare gastroenterologic disease +GARD:0019047,GARD:0022532,GARD:0022532,,Rare urogenital disease +GARD:0019048,GARD:0022536,GARD:0022291,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019048,GARD:0022512,GARD:0022291,,Rare renal disease +GARD:0019049,GARD:0022531,GARD:0019194,,Rare genetic disease +GARD:0019049,GARD:0022513,GARD:0019194,,Rare developmental defect during embryogenesis +GARD:0019049,GARD:0022511,GARD:0019194,,Rare bone disease +GARD:0019050,GARD:0022511,GARD:0008542,,Rare bone disease +GARD:0019050,GARD:0022513,GARD:0008542,,Rare developmental defect during embryogenesis +GARD:0019050,GARD:0022531,GARD:0008542,,Rare genetic disease +GARD:0019051,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0019051,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0019051,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0019052,GARD:0022511,GARD:0019208,,Rare bone disease +GARD:0019052,GARD:0022513,GARD:0019208,,Rare developmental defect during embryogenesis +GARD:0019052,GARD:0022531,GARD:0019208,,Rare genetic disease +GARD:0019053,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0019053,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0019053,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0019054,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0019054,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0019054,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0019055,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0019055,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0019055,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0019056,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0019056,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0019056,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0019057,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0019057,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0019057,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0019058,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0019058,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0019058,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0019059,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0019059,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0019059,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0019060,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0019060,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0019060,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0019061,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0019061,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0019061,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0019061,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0019062,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0019062,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0019062,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0019062,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0019063,GARD:0022531,GARD:0020665,,Rare genetic disease +GARD:0019063,GARD:0022524,GARD:0020665,,Rare neurologic disease +GARD:0019063,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0019063,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0019064,GARD:0021079,GARD:0021729,,Rare systemic or rheumatological disease of childhood +GARD:0019064,GARD:0022536,GARD:0021729,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019064,GARD:0022525,GARD:0021729,,Rare systemic or rheumatologic disease +GARD:0019064,GARD:0022517,GARD:0021729,,Rare respiratory disease +GARD:0019065,GARD:0022525,GARD:0021829,,Rare systemic or rheumatologic disease +GARD:0019065,GARD:0022536,GARD:0021829,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019066,GARD:0022510,GARD:0021709,GARD:0019143,Rare skin disease +GARD:0019066,GARD:0022510,GARD:0021709,GARD:0019144,Rare skin disease +GARD:0019066,GARD:0022510,GARD:0021709,GARD:0019142,Rare skin disease +GARD:0019067,GARD:0022513,GARD:0019821,,Rare developmental defect during embryogenesis +GARD:0019067,GARD:0022531,GARD:0019821,,Rare genetic disease +GARD:0019067,GARD:0022524,GARD:0019821,,Rare neurologic disease +GARD:0019068,GARD:0022513,GARD:0012291,GARD:0019731,Rare developmental defect during embryogenesis +GARD:0019068,GARD:0022513,GARD:0012291,GARD:0019734,Rare developmental defect during embryogenesis +GARD:0019068,GARD:0022531,GARD:0012291,GARD:0019733,Rare genetic disease +GARD:0019068,GARD:0022524,GARD:0012291,GARD:0019736,Rare neurologic disease +GARD:0019068,GARD:0022524,GARD:0012291,GARD:0019732,Rare neurologic disease +GARD:0019068,GARD:0022524,GARD:0012291,GARD:0019733,Rare neurologic disease +GARD:0019068,GARD:0022524,GARD:0012291,GARD:0019731,Rare neurologic disease +GARD:0019068,GARD:0022531,GARD:0012291,GARD:0019736,Rare genetic disease +GARD:0019068,GARD:0022513,GARD:0012291,GARD:0019733,Rare developmental defect during embryogenesis +GARD:0019068,GARD:0022524,GARD:0012291,GARD:0019734,Rare neurologic disease +GARD:0019068,GARD:0022531,GARD:0012291,GARD:0019731,Rare genetic disease +GARD:0019068,GARD:0022531,GARD:0012291,GARD:0019732,Rare genetic disease +GARD:0019068,GARD:0022531,GARD:0012291,GARD:0019735,Rare genetic disease +GARD:0019068,GARD:0022513,GARD:0012291,GARD:0019735,Rare developmental defect during embryogenesis +GARD:0019068,GARD:0022513,GARD:0012291,GARD:0019736,Rare developmental defect during embryogenesis +GARD:0019068,GARD:0022524,GARD:0012291,GARD:0019735,Rare neurologic disease +GARD:0019068,GARD:0022513,GARD:0012291,GARD:0019732,Rare developmental defect during embryogenesis +GARD:0019068,GARD:0022531,GARD:0012291,GARD:0019734,Rare genetic disease +GARD:0019069,GARD:0022536,GARD:0007132,GARD:0019585,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019069,GARD:0022535,GARD:0007132,GARD:0019778,Rare neoplastic disease +GARD:0019069,GARD:0022536,GARD:0007132,GARD:0019778,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019069,GARD:0022536,GARD:0007132,GARD:0019586,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019069,GARD:0022535,GARD:0007132,GARD:0019585,Rare neoplastic disease +GARD:0019069,GARD:0022536,GARD:0007132,GARD:0022071,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019069,GARD:0022535,GARD:0007132,GARD:0022071,Rare neoplastic disease +GARD:0019069,GARD:0022522,GARD:0007132,GARD:0019585,Rare hematologic disease +GARD:0019069,GARD:0022522,GARD:0007132,GARD:0022071,Rare hematologic disease +GARD:0019069,GARD:0022522,GARD:0007132,GARD:0019778,Rare hematologic disease +GARD:0019069,GARD:0022535,GARD:0007132,GARD:0019586,Rare neoplastic disease +GARD:0019069,GARD:0022522,GARD:0007132,GARD:0019586,Rare hematologic disease +GARD:0019070,GARD:0022522,GARD:0007132,GARD:0019737,Rare hematologic disease +GARD:0019070,GARD:0022535,GARD:0007132,GARD:0019738,Rare neoplastic disease +GARD:0019070,GARD:0022536,GARD:0007132,GARD:0019738,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019070,GARD:0022536,GARD:0007132,GARD:0019737,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019070,GARD:0022522,GARD:0007132,GARD:0019738,Rare hematologic disease +GARD:0019070,GARD:0022535,GARD:0007132,GARD:0019737,Rare neoplastic disease +GARD:0019071,GARD:0022535,GARD:0012760,,Rare neoplastic disease +GARD:0019071,GARD:0022536,GARD:0012760,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019071,GARD:0022522,GARD:0012760,,Rare hematologic disease +GARD:0019072,GARD:0022522,GARD:0013237,,Rare hematologic disease +GARD:0019072,GARD:0022535,GARD:0013237,,Rare neoplastic disease +GARD:0019072,GARD:0022536,GARD:0013237,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019073,GARD:0022522,GARD:0019440,GARD:0019223,Rare hematologic disease +GARD:0019073,GARD:0022512,GARD:0022291,GARD:0019223,Rare renal disease +GARD:0019073,GARD:0022522,GARD:0019440,GARD:0019222,Rare hematologic disease +GARD:0019073,GARD:0022536,GARD:0022291,GARD:0019222,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019073,GARD:0022536,GARD:0019440,GARD:0006906,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019073,GARD:0022536,GARD:0022291,GARD:0019223,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019073,GARD:0022522,GARD:0019440,GARD:0006906,Rare hematologic disease +GARD:0019073,GARD:0022512,GARD:0022291,GARD:0006906,Rare renal disease +GARD:0019073,GARD:0022535,GARD:0019440,GARD:0019222,Rare neoplastic disease +GARD:0019073,GARD:0022512,GARD:0022291,GARD:0019222,Rare renal disease +GARD:0019073,GARD:0022536,GARD:0022291,GARD:0006906,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019073,GARD:0022535,GARD:0019440,GARD:0006906,Rare neoplastic disease +GARD:0019073,GARD:0022536,GARD:0019440,GARD:0019223,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019073,GARD:0022536,GARD:0019440,GARD:0019222,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019073,GARD:0022535,GARD:0019440,GARD:0019223,Rare neoplastic disease +GARD:0019074,GARD:0022522,GARD:0019440,GARD:0019741,Rare hematologic disease +GARD:0019074,GARD:0022522,GARD:0019440,GARD:0019742,Rare hematologic disease +GARD:0019074,GARD:0022535,GARD:0019440,GARD:0019742,Rare neoplastic disease +GARD:0019074,GARD:0022535,GARD:0019440,GARD:0010346,Rare neoplastic disease +GARD:0019074,GARD:0022536,GARD:0019440,GARD:0010346,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019074,GARD:0022535,GARD:0019440,GARD:0019741,Rare neoplastic disease +GARD:0019074,GARD:0022536,GARD:0019440,GARD:0019741,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019074,GARD:0022522,GARD:0019440,GARD:0010346,Rare hematologic disease +GARD:0019074,GARD:0022536,GARD:0019440,GARD:0019742,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019075,GARD:0022535,GARD:0013237,,Rare neoplastic disease +GARD:0019075,GARD:0022536,GARD:0013237,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019075,GARD:0022522,GARD:0013237,,Rare hematologic disease +GARD:0019076,GARD:0022522,GARD:0020162,,Rare hematologic disease +GARD:0019076,GARD:0022535,GARD:0020162,,Rare neoplastic disease +GARD:0019076,GARD:0022535,GARD:0021145,,Rare neoplastic disease +GARD:0019076,GARD:0022536,GARD:0020162,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019076,GARD:0022510,GARD:0020162,,Rare skin disease +GARD:0019077,GARD:0022522,GARD:0020133,,Rare hematologic disease +GARD:0019077,GARD:0022535,GARD:0020133,,Rare neoplastic disease +GARD:0019077,GARD:0022536,GARD:0020133,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019078,GARD:0022536,GARD:0020162,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019078,GARD:0022522,GARD:0020162,,Rare hematologic disease +GARD:0019078,GARD:0022510,GARD:0020162,,Rare skin disease +GARD:0019078,GARD:0022535,GARD:0020162,,Rare neoplastic disease +GARD:0019079,GARD:0022536,GARD:0002714,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019079,GARD:0022522,GARD:0002714,,Rare hematologic disease +GARD:0019079,GARD:0022535,GARD:0002714,,Rare neoplastic disease +GARD:0019080,GARD:0022522,GARD:0019442,,Rare hematologic disease +GARD:0019080,GARD:0022536,GARD:0019442,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019080,GARD:0022535,GARD:0019442,,Rare neoplastic disease +GARD:0019081,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0019081,GARD:0022535,GARD:0021149,,Rare neoplastic disease +GARD:0019082,GARD:0022522,GARD:0008317,,Rare hematologic disease +GARD:0019082,GARD:0022536,GARD:0008317,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019082,GARD:0022535,GARD:0008317,,Rare neoplastic disease +GARD:0019083,GARD:0022536,GARD:0019443,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019083,GARD:0022522,GARD:0019443,,Rare hematologic disease +GARD:0019083,GARD:0022535,GARD:0019443,,Rare neoplastic disease +GARD:0019084,GARD:0022531,GARD:0020088,,Rare genetic disease +GARD:0019084,GARD:0022524,GARD:0020088,,Rare neurologic disease +GARD:0019085,GARD:0022524,GARD:0021553,,Rare neurologic disease +GARD:0019085,GARD:0022524,GARD:0019436,,Rare neurologic disease +GARD:0019086,GARD:0022524,GARD:0019436,,Rare neurologic disease +GARD:0019086,GARD:0022531,GARD:0019436,,Rare genetic disease +GARD:0019087,GARD:0022524,GARD:0021278,,Rare neurologic disease +GARD:0019087,GARD:0022524,GARD:0019437,,Rare neurologic disease +GARD:0019087,GARD:0022531,GARD:0019437,,Rare genetic disease +GARD:0019088,GARD:0022531,GARD:0019436,,Rare genetic disease +GARD:0019088,GARD:0022524,GARD:0019436,,Rare neurologic disease +GARD:0019089,GARD:0022531,GARD:0019448,,Rare genetic disease +GARD:0019089,GARD:0022510,GARD:0019448,,Rare skin disease +GARD:0019090,GARD:0022524,GARD:0022524,GARD:0019783,Rare neurologic disease +GARD:0019090,GARD:0022524,GARD:0022524,GARD:0019834,Rare neurologic disease +GARD:0019090,GARD:0022524,GARD:0022524,GARD:0017965,Rare neurologic disease +GARD:0019091,GARD:0022528,GARD:0018880,GARD:0018644,Rare otorhinolaryngologic disease +GARD:0019091,GARD:0022528,GARD:0018880,GARD:0016790,Rare otorhinolaryngologic disease +GARD:0019091,GARD:0022528,GARD:0018880,GARD:0016792,Rare otorhinolaryngologic disease +GARD:0019091,GARD:0022531,GARD:0019346,GARD:0016791,Rare genetic disease +GARD:0019091,GARD:0022531,GARD:0019346,GARD:0018644,Rare genetic disease +GARD:0019091,GARD:0022528,GARD:0018880,GARD:0016791,Rare otorhinolaryngologic disease +GARD:0019091,GARD:0022531,GARD:0019346,GARD:0016792,Rare genetic disease +GARD:0019091,GARD:0022531,GARD:0019346,GARD:0016790,Rare genetic disease +GARD:0019092,GARD:0022531,GARD:0020137,,Rare genetic disease +GARD:0019092,GARD:0022521,GARD:0020137,,Rare endocrine disease +GARD:0019093,GARD:0022527,GARD:0020010,,Rare circulatory system disease +GARD:0019093,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019093,GARD:0022512,GARD:0020010,,Rare renal disease +GARD:0019093,GARD:0022531,GARD:0020010,,Rare genetic disease +GARD:0019093,GARD:0022514,GARD:0020049,,Rare gynecologic or obstetric disease +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0019556,Rare surgical cardiac disease +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0019556,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0021541,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0002305,Rare surgical cardiac disease +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0019558,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0018724,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0021877,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0001094,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0018724,Rare surgical cardiac disease +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0019647,Rare surgical cardiac disease +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0018779,Rare surgical cardiac disease +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0019647,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0019554,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0019269,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0019269,Rare surgical cardiac disease +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0021541,Rare surgical cardiac disease +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0019554,Rare surgical cardiac disease +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0019551,Rare surgical cardiac disease +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0021948,Rare surgical cardiac disease +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0018779,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0001534,Rare surgical cardiac disease +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0019550,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0001094,Rare surgical cardiac disease +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0019550,Rare surgical cardiac disease +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0002305,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0021948,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0019551,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0021877,Rare surgical cardiac disease +GARD:0019094,GARD:0022513,GARD:0022519,GARD:0001534,Rare developmental defect during embryogenesis +GARD:0019094,GARD:0022519,GARD:0022519,GARD:0019558,Rare surgical cardiac disease +GARD:0019095,GARD:0022513,GARD:0019391,GARD:0019855,Rare developmental defect during embryogenesis +GARD:0019095,GARD:0022531,GARD:0020295,GARD:0021616,Rare genetic disease +GARD:0019095,GARD:0022531,GARD:0020295,GARD:0019855,Rare genetic disease +GARD:0019095,GARD:0022534,GARD:0019391,GARD:0019855,Rare abdominal surgical disease +GARD:0019095,GARD:0022513,GARD:0019391,GARD:0019856,Rare developmental defect during embryogenesis +GARD:0019095,GARD:0022534,GARD:0019391,GARD:0019856,Rare abdominal surgical disease +GARD:0019096,GARD:0022524,GARD:0019389,GARD:0019489,Rare neurologic disease +GARD:0019096,GARD:0022524,GARD:0019389,GARD:0009980,Rare neurologic disease +GARD:0019096,GARD:0022524,GARD:0019389,GARD:0019490,Rare neurologic disease +GARD:0019096,GARD:0022524,GARD:0019389,GARD:0019484,Rare neurologic disease +GARD:0019096,GARD:0022524,GARD:0019389,GARD:0019372,Rare neurologic disease +GARD:0019096,GARD:0022524,GARD:0019389,GARD:0018846,Rare neurologic disease +GARD:0019096,GARD:0022524,GARD:0019389,GARD:0006406,Rare neurologic disease +GARD:0019096,GARD:0022524,GARD:0019389,GARD:0019492,Rare neurologic disease +GARD:0019096,GARD:0022524,GARD:0019389,GARD:0021988,Rare neurologic disease +GARD:0019096,GARD:0022524,GARD:0019389,GARD:0019371,Rare neurologic disease +GARD:0019096,GARD:0022524,GARD:0019389,GARD:0020029,Rare neurologic disease +GARD:0019096,GARD:0022524,GARD:0019389,GARD:0003971,Rare neurologic disease +GARD:0019097,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0019098,GARD:0022506,GARD:0019789,GARD:0022239,Rare hepatic disease +GARD:0019098,GARD:0022506,GARD:0019789,GARD:0022240,Rare hepatic disease +GARD:0019099,GARD:0022533,GARD:0022139,,Rare disorder due to toxic effects +GARD:0019099,GARD:0022524,GARD:0019815,,Rare neurologic disease +GARD:0019100,GARD:0022511,GARD:0019211,GARD:0004434,Rare bone disease +GARD:0019100,GARD:0022531,GARD:0019211,GARD:0004434,Rare genetic disease +GARD:0019100,GARD:0022511,GARD:0019211,GARD:0005089,Rare bone disease +GARD:0019100,GARD:0022513,GARD:0019211,GARD:0005081,Rare developmental defect during embryogenesis +GARD:0019100,GARD:0022511,GARD:0019211,GARD:0005088,Rare bone disease +GARD:0019100,GARD:0022513,GARD:0019211,GARD:0003559,Rare developmental defect during embryogenesis +GARD:0019100,GARD:0022513,GARD:0019211,GARD:0005087,Rare developmental defect during embryogenesis +GARD:0019100,GARD:0022531,GARD:0019211,GARD:0021201,Rare genetic disease +GARD:0019100,GARD:0022513,GARD:0019211,GARD:0004434,Rare developmental defect during embryogenesis +GARD:0019100,GARD:0022531,GARD:0019211,GARD:0010590,Rare genetic disease +GARD:0019100,GARD:0022511,GARD:0019211,GARD:0005081,Rare bone disease +GARD:0019100,GARD:0022531,GARD:0019211,GARD:0005089,Rare genetic disease +GARD:0019100,GARD:0022511,GARD:0019211,GARD:0010590,Rare bone disease +GARD:0019100,GARD:0022531,GARD:0019211,GARD:0005087,Rare genetic disease +GARD:0019100,GARD:0022531,GARD:0019211,GARD:0003559,Rare genetic disease +GARD:0019100,GARD:0022531,GARD:0019211,GARD:0005088,Rare genetic disease +GARD:0019100,GARD:0022513,GARD:0019211,GARD:0005089,Rare developmental defect during embryogenesis +GARD:0019100,GARD:0022513,GARD:0019211,GARD:0021201,Rare developmental defect during embryogenesis +GARD:0019100,GARD:0022511,GARD:0019211,GARD:0003559,Rare bone disease +GARD:0019100,GARD:0022531,GARD:0019211,GARD:0005081,Rare genetic disease +GARD:0019100,GARD:0022511,GARD:0019211,GARD:0021201,Rare bone disease +GARD:0019100,GARD:0022513,GARD:0019211,GARD:0005088,Rare developmental defect during embryogenesis +GARD:0019100,GARD:0022513,GARD:0019211,GARD:0010590,Rare developmental defect during embryogenesis +GARD:0019100,GARD:0022511,GARD:0019211,GARD:0005087,Rare bone disease +GARD:0019101,GARD:0022522,GARD:0005870,,Rare hematologic disease +GARD:0019102,GARD:0022522,GARD:0005870,,Rare hematologic disease +GARD:0019103,GARD:0022522,GARD:0018883,,Rare hematologic disease +GARD:0019103,GARD:0022531,GARD:0021934,,Rare genetic disease +GARD:0019103,GARD:0022536,GARD:0018883,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019104,GARD:0022522,GARD:0020636,,Rare hematologic disease +GARD:0019104,GARD:0022522,GARD:0020678,,Rare hematologic disease +GARD:0019105,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0019106,GARD:0022536,GARD:0022536,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019106,GARD:0022506,GARD:0022506,,Rare hepatic disease +GARD:0019107,GARD:0022536,GARD:0022536,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019108,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0019109,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0019110,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0019111,GARD:0022520,GARD:0004457,GARD:0021069,Rare ophthalmic disorder +GARD:0019111,GARD:0022520,GARD:0004457,GARD:0007503,Rare ophthalmic disorder +GARD:0019111,GARD:0022520,GARD:0004457,GARD:0005926,Rare ophthalmic disorder +GARD:0019111,GARD:0022520,GARD:0004457,GARD:0000031,Rare ophthalmic disorder +GARD:0019111,GARD:0022520,GARD:0004457,GARD:0021099,Rare ophthalmic disorder +GARD:0019112,GARD:0022506,GARD:0022506,,Rare hepatic disease +GARD:0019113,GARD:0022527,GARD:0022014,,Rare circulatory system disease +GARD:0019114,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0019115,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0019116,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0019117,GARD:0022536,GARD:0022536,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019117,GARD:0022506,GARD:0022506,,Rare hepatic disease +GARD:0019118,GARD:0022510,GARD:0019010,,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0007664,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0010014,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0009725,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0008653,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0021135,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0019246,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0003109,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0018826,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0018820,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0020592,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0021889,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0006940,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0006351,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0010946,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0018940,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0022452,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0000329,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0013606,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0007842,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0005975,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0021888,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0022442,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0002188,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0000412,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0020069,Rare skin disease +GARD:0019119,GARD:0022510,GARD:0022510,GARD:0018800,Rare skin disease +GARD:0019120,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0019121,GARD:0022520,GARD:0022110,,Rare ophthalmic disorder +GARD:0019122,GARD:0022523,GARD:0021359,,Rare immune disease +GARD:0019123,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0019123,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0019124,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0019124,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0019125,GARD:0022521,GARD:0005867,,Rare endocrine disease +GARD:0019125,GARD:0022510,GARD:0005867,,Rare skin disease +GARD:0019126,GARD:0022510,GARD:0005867,,Rare skin disease +GARD:0019126,GARD:0022521,GARD:0005867,,Rare endocrine disease +GARD:0019127,GARD:0022521,GARD:0005867,,Rare endocrine disease +GARD:0019127,GARD:0022510,GARD:0005867,,Rare skin disease +GARD:0019128,GARD:0022521,GARD:0005867,,Rare endocrine disease +GARD:0019128,GARD:0022510,GARD:0005867,,Rare skin disease +GARD:0019129,GARD:0022521,GARD:0005867,,Rare endocrine disease +GARD:0019129,GARD:0022510,GARD:0005867,,Rare skin disease +GARD:0019130,GARD:0022531,GARD:0020273,,Rare genetic disease +GARD:0019130,GARD:0022510,GARD:0020043,,Rare skin disease +GARD:0019130,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0019131,GARD:0022510,GARD:0020043,,Rare skin disease +GARD:0019132,GARD:0022510,GARD:0020043,,Rare skin disease +GARD:0019133,GARD:0022510,GARD:0020043,,Rare skin disease +GARD:0019134,GARD:0022510,GARD:0006227,GARD:0001638,Rare skin disease +GARD:0019134,GARD:0022518,GARD:0006227,GARD:0001641,Rare surgical thoracic disease +GARD:0019134,GARD:0022518,GARD:0006227,GARD:0001638,Rare surgical thoracic disease +GARD:0019134,GARD:0022510,GARD:0006227,GARD:0001641,Rare skin disease +GARD:0019134,GARD:0022531,GARD:0019201,GARD:0001641,Rare genetic disease +GARD:0019134,GARD:0022513,GARD:0006227,GARD:0001641,Rare developmental defect during embryogenesis +GARD:0019134,GARD:0022531,GARD:0006227,GARD:0001638,Rare genetic disease +GARD:0019134,GARD:0022531,GARD:0021157,GARD:0001641,Rare genetic disease +GARD:0019134,GARD:0022513,GARD:0019201,GARD:0001638,Rare developmental defect during embryogenesis +GARD:0019134,GARD:0022534,GARD:0006227,GARD:0001638,Rare abdominal surgical disease +GARD:0019134,GARD:0022531,GARD:0006227,GARD:0001641,Rare genetic disease +GARD:0019134,GARD:0022508,GARD:0021157,GARD:0001638,Rare inborn errors of metabolism +GARD:0019134,GARD:0022531,GARD:0019201,GARD:0001638,Rare genetic disease +GARD:0019134,GARD:0022534,GARD:0006227,GARD:0001641,Rare abdominal surgical disease +GARD:0019134,GARD:0022513,GARD:0019201,GARD:0001641,Rare developmental defect during embryogenesis +GARD:0019134,GARD:0022511,GARD:0019201,GARD:0001641,Rare bone disease +GARD:0019134,GARD:0022531,GARD:0021157,GARD:0001638,Rare genetic disease +GARD:0019134,GARD:0022511,GARD:0019201,GARD:0001638,Rare bone disease +GARD:0019134,GARD:0022513,GARD:0006227,GARD:0001638,Rare developmental defect during embryogenesis +GARD:0019134,GARD:0022508,GARD:0021157,GARD:0001641,Rare inborn errors of metabolism +GARD:0019135,GARD:0022516,GARD:0012331,,Rare gastroenterologic disease +GARD:0019136,GARD:0022522,GARD:0016723,,Rare hematologic disease +GARD:0019136,GARD:0022510,GARD:0016723,,Rare skin disease +GARD:0019136,GARD:0022535,GARD:0016723,,Rare neoplastic disease +GARD:0019137,GARD:0022510,GARD:0007321,,Rare skin disease +GARD:0019138,GARD:0022510,GARD:0007321,,Rare skin disease +GARD:0019139,GARD:0022510,GARD:0007321,,Rare skin disease +GARD:0019140,GARD:0022510,GARD:0007321,,Rare skin disease +GARD:0019141,GARD:0022510,GARD:0007321,,Rare skin disease +GARD:0019142,GARD:0022510,GARD:0019066,,Rare skin disease +GARD:0019143,GARD:0022510,GARD:0019066,,Rare skin disease +GARD:0019144,GARD:0022510,GARD:0019066,,Rare skin disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0008756,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0018024,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0000816,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001688,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0018789,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0016648,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0002195,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0008756,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0013030,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0005524,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003125,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0010239,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017367,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001100,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0000180,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001686,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0000086,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0016624,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0004412,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017727,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0000369,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0010518,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0005785,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017351,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0016996,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017295,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0004060,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0018755,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0002911,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017503,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0018025,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0004636,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0016648,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0013030,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0000230,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003566,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0018755,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0005555,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017968,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0004303,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0018021,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017775,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0006817,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017727,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0018789,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0002279,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017503,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0021838,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0005021,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017683,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0007784,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0004412,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0004003,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003682,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0007009,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0022350,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0000369,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0018025,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017633,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0012372,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017484,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0004323,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0004655,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0016996,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001687,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0000589,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003943,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0004655,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0018755,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017758,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0004060,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0004323,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001163,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001695,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017071,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0019919,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0000816,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017351,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0006465,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0009993,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0016686,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0022068,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0010299,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0021174,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0006122,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0010522,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0011927,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017903,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0010148,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0009124,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017889,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0016686,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0021898,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0018024,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017768,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017780,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0002342,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003873,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017923,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0021612,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001691,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0009818,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0018021,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0022068,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017145,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0004644,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0004121,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0004666,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001163,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0021504,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0016750,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017993,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0000407,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0004271,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003940,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017592,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0000180,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0016786,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017328,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003048,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0005787,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0012444,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017072,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0005802,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0008333,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0010508,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0016750,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001691,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003836,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0004841,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0000784,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0011911,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017780,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017904,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0002279,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003902,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017071,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0006992,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0002542,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017004,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017753,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001684,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0004070,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017484,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0011911,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017923,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003048,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0021612,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017145,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0010148,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003056,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003682,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0004303,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0002451,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0007772,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001571,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017367,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017071,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003566,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017799,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0010707,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0002342,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017804,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017130,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017804,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0018776,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0018788,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0009818,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001460,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0010508,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0002362,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017889,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017791,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017775,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017988,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003701,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003094,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003929,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0000784,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001100,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0021898,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017923,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0022366,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017328,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017968,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017926,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0009210,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017753,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0007772,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0004271,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001460,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0005121,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0009418,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0000589,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0000029,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017004,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003940,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017633,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0000248,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0008423,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0004683,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017775,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003982,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0016684,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0012963,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0010782,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017736,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003940,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0000407,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0005535,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0000369,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0009190,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017768,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0007224,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0018021,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0002362,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0005535,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003682,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003094,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017736,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003836,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0007843,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0021838,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0018788,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0007193,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0018024,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0010147,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001686,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017328,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0005170,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001141,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0000157,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0005524,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001100,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003056,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017791,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001684,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0002568,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017753,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0000248,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0022366,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0004636,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0010147,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0007772,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0016646,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017903,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0007898,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0000029,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0016684,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0007896,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0009210,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0005121,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003056,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003929,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0016996,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0004412,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0009210,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003873,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0007224,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0016966,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003836,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003566,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0010518,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0000407,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003902,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0010522,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0009418,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0008331,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017145,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0004003,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017758,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017072,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0012372,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0008756,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0008423,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001163,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0002911,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0004271,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017961,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0022366,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001688,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0022145,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0010299,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0005802,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0021504,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017362,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017004,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017889,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0009190,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0009993,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0007896,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0008331,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0004070,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003982,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017903,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017904,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0010989,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001188,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0006122,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017683,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0005535,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0022350,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0005524,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0008423,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0005787,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017592,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0000784,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0021838,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0012631,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017961,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003902,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0016624,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0018909,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017639,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017993,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017926,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0011911,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0022068,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0010041,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017130,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0005802,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0007896,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0019919,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0010239,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017758,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0006992,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0011927,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0000230,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0022231,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017804,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0007009,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0005787,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0022350,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017130,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0005555,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0000592,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0016646,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0004841,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017983,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0000086,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017904,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0002195,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0012844,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0004683,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0002568,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017484,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0006817,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0021174,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0012963,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0009190,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003929,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017968,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0010148,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001705,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0007898,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0016686,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001687,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0011927,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0012844,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0007193,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0021504,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017503,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0010147,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0002911,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0022231,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0002451,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017362,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0005170,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017961,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017768,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0004644,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0010514,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0010041,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017367,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017639,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017072,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0009418,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0005785,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0016786,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0018776,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003113,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0007843,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0000157,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001686,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0010989,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001188,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003125,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0006465,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0010514,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017926,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0010299,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0000816,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017988,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003092,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017592,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0006817,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003873,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0018025,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003113,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0018789,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0004636,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0006465,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0012844,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017993,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0004655,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0012444,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0004666,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0016648,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001695,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0005021,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0000086,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0016750,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001571,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0004060,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003094,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0021174,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003701,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0006992,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0016786,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0010782,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0005021,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0016966,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0002279,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017295,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0010989,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0000064,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0010522,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0007224,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0004003,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017633,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0012631,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003125,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0018869,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0018909,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0005525,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0006122,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0007898,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0005121,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001141,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017799,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0019919,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0000230,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0007784,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0000592,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0002568,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017736,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0018909,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0005525,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0009723,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0009723,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003982,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001688,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0010707,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0012444,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017983,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0005555,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0010518,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003092,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0009124,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0016966,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0002362,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0008331,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0018776,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0002195,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0002542,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001705,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017780,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0000248,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017727,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0007193,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0022145,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001691,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0018869,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001684,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0021612,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0010603,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001460,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003943,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0004121,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0005785,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0008333,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001698,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0016684,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0022145,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0010782,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001705,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001141,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0010603,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0005170,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0004323,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001698,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0003092,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0012372,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0004303,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017988,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0004841,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0016624,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0010041,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0000064,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0010239,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0012631,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001571,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0000180,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0009124,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0010508,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003113,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0002542,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0013030,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0012963,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001529,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017791,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001698,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0007843,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0002342,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001687,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0000157,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0007784,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0004070,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0009993,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001695,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0005525,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003048,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0007009,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0016646,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0000592,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0001188,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0003701,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0017295,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017983,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0010603,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0000589,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0003943,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0009818,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0001529,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0004683,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0001529,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0018869,Rare genetic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0002451,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0022231,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017351,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0004121,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0008333,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017362,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0000064,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0010514,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0021898,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0004644,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0009723,Rare genetic disease +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0010707,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017799,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022513,GARD:0022513,GARD:0017683,Rare developmental defect during embryogenesis +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0017639,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022528,GARD:0018880,GARD:0018788,Rare otorhinolaryngologic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0004666,Rare genetic disease +GARD:0019145,GARD:0022531,GARD:0019346,GARD:0000029,Rare genetic disease +GARD:0019146,GARD:0022521,GARD:0022521,GARD:0010486,Rare endocrine disease +GARD:0019146,GARD:0022521,GARD:0022521,GARD:0001487,Rare endocrine disease +GARD:0019146,GARD:0022521,GARD:0022521,GARD:0017727,Rare endocrine disease +GARD:0019146,GARD:0022521,GARD:0022521,GARD:0001467,Rare endocrine disease +GARD:0019146,GARD:0022521,GARD:0022521,GARD:0019293,Rare endocrine disease +GARD:0019146,GARD:0022521,GARD:0022521,GARD:0007446,Rare endocrine disease +GARD:0019146,GARD:0022521,GARD:0022521,GARD:0013108,Rare endocrine disease +GARD:0019146,GARD:0022521,GARD:0022521,GARD:0012312,Rare endocrine disease +GARD:0019146,GARD:0022521,GARD:0022521,GARD:0019294,Rare endocrine disease +GARD:0019146,GARD:0022521,GARD:0022521,GARD:0019272,Rare endocrine disease +GARD:0019146,GARD:0022521,GARD:0022521,GARD:0003924,Rare endocrine disease +GARD:0019147,GARD:0022513,GARD:0022513,GARD:0018783,Rare developmental defect during embryogenesis +GARD:0019147,GARD:0022532,GARD:0022532,GARD:0021476,Rare urogenital disease +GARD:0019147,GARD:0022521,GARD:0022521,GARD:0018783,Rare endocrine disease +GARD:0019147,GARD:0022513,GARD:0022513,GARD:0008538,Rare developmental defect during embryogenesis +GARD:0019147,GARD:0022521,GARD:0022521,GARD:0008538,Rare endocrine disease +GARD:0019147,GARD:0022513,GARD:0022513,GARD:0021476,Rare developmental defect during embryogenesis +GARD:0019147,GARD:0022521,GARD:0022521,GARD:0021476,Rare endocrine disease +GARD:0019147,GARD:0022532,GARD:0022532,GARD:0008538,Rare urogenital disease +GARD:0019147,GARD:0022532,GARD:0022532,GARD:0018783,Rare urogenital disease +GARD:0019148,GARD:0022513,GARD:0019409,GARD:0002499,Rare developmental defect during embryogenesis +GARD:0019148,GARD:0022514,GARD:0019409,GARD:0016665,Rare gynecologic or obstetric disease +GARD:0019148,GARD:0022521,GARD:0019409,GARD:0016665,Rare endocrine disease +GARD:0019148,GARD:0022532,GARD:0019409,GARD:0009152,Rare urogenital disease +GARD:0019148,GARD:0022531,GARD:0021480,GARD:0012664,Rare genetic disease +GARD:0019148,GARD:0022514,GARD:0019409,GARD:0009152,Rare gynecologic or obstetric disease +GARD:0019148,GARD:0022531,GARD:0021482,GARD:0012664,Rare genetic disease +GARD:0019148,GARD:0022531,GARD:0021482,GARD:0009152,Rare genetic disease +GARD:0019148,GARD:0022521,GARD:0019409,GARD:0002499,Rare endocrine disease +GARD:0019148,GARD:0022531,GARD:0021480,GARD:0012665,Rare genetic disease +GARD:0019148,GARD:0022531,GARD:0021480,GARD:0005658,Rare genetic disease +GARD:0019148,GARD:0022532,GARD:0019409,GARD:0016665,Rare urogenital disease +GARD:0019148,GARD:0022532,GARD:0019409,GARD:0012665,Rare urogenital disease +GARD:0019148,GARD:0022521,GARD:0019409,GARD:0009152,Rare endocrine disease +GARD:0019148,GARD:0022521,GARD:0019409,GARD:0005658,Rare endocrine disease +GARD:0019148,GARD:0022513,GARD:0019409,GARD:0012664,Rare developmental defect during embryogenesis +GARD:0019148,GARD:0022531,GARD:0021480,GARD:0002499,Rare genetic disease +GARD:0019148,GARD:0022514,GARD:0019409,GARD:0005658,Rare gynecologic or obstetric disease +GARD:0019148,GARD:0022531,GARD:0021480,GARD:0009152,Rare genetic disease +GARD:0019148,GARD:0022513,GARD:0019409,GARD:0016665,Rare developmental defect during embryogenesis +GARD:0019148,GARD:0022521,GARD:0019409,GARD:0012665,Rare endocrine disease +GARD:0019148,GARD:0022513,GARD:0019409,GARD:0009152,Rare developmental defect during embryogenesis +GARD:0019148,GARD:0022532,GARD:0019409,GARD:0012664,Rare urogenital disease +GARD:0019148,GARD:0022532,GARD:0019409,GARD:0005658,Rare urogenital disease +GARD:0019148,GARD:0022531,GARD:0021482,GARD:0016665,Rare genetic disease +GARD:0019148,GARD:0022521,GARD:0019409,GARD:0012664,Rare endocrine disease +GARD:0019148,GARD:0022531,GARD:0021482,GARD:0002499,Rare genetic disease +GARD:0019148,GARD:0022531,GARD:0021482,GARD:0012665,Rare genetic disease +GARD:0019148,GARD:0022514,GARD:0019409,GARD:0012664,Rare gynecologic or obstetric disease +GARD:0019148,GARD:0022531,GARD:0021482,GARD:0005658,Rare genetic disease +GARD:0019148,GARD:0022532,GARD:0019409,GARD:0002499,Rare urogenital disease +GARD:0019148,GARD:0022513,GARD:0019409,GARD:0005658,Rare developmental defect during embryogenesis +GARD:0019148,GARD:0022514,GARD:0019409,GARD:0012665,Rare gynecologic or obstetric disease +GARD:0019148,GARD:0022513,GARD:0019409,GARD:0012665,Rare developmental defect during embryogenesis +GARD:0019148,GARD:0022514,GARD:0019409,GARD:0002499,Rare gynecologic or obstetric disease +GARD:0019148,GARD:0022531,GARD:0021480,GARD:0016665,Rare genetic disease +GARD:0019149,GARD:0022521,GARD:0021471,GARD:0019151,Rare endocrine disease +GARD:0019149,GARD:0022513,GARD:0021471,GARD:0019150,Rare developmental defect during embryogenesis +GARD:0019149,GARD:0022531,GARD:0021471,GARD:0019150,Rare genetic disease +GARD:0019149,GARD:0022536,GARD:0021471,GARD:0021472,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019149,GARD:0022536,GARD:0021471,GARD:0019151,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019149,GARD:0022513,GARD:0021471,GARD:0021472,Rare developmental defect during embryogenesis +GARD:0019149,GARD:0022531,GARD:0021471,GARD:0021472,Rare genetic disease +GARD:0019149,GARD:0022532,GARD:0021471,GARD:0019151,Rare urogenital disease +GARD:0019149,GARD:0022521,GARD:0021471,GARD:0019150,Rare endocrine disease +GARD:0019149,GARD:0022532,GARD:0021471,GARD:0019150,Rare urogenital disease +GARD:0019149,GARD:0022521,GARD:0021471,GARD:0021472,Rare endocrine disease +GARD:0019149,GARD:0022532,GARD:0021471,GARD:0021472,Rare urogenital disease +GARD:0019149,GARD:0022536,GARD:0021471,GARD:0019150,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019149,GARD:0022531,GARD:0021471,GARD:0019151,Rare genetic disease +GARD:0019149,GARD:0022513,GARD:0021471,GARD:0019151,Rare developmental defect during embryogenesis +GARD:0019150,GARD:0022521,GARD:0019149,GARD:0016665,Rare endocrine disease +GARD:0019150,GARD:0022536,GARD:0019149,GARD:0001465,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019150,GARD:0022531,GARD:0019149,GARD:0017033,Rare genetic disease +GARD:0019150,GARD:0022513,GARD:0019149,GARD:0001469,Rare developmental defect during embryogenesis +GARD:0019150,GARD:0022514,GARD:0021478,GARD:0017033,Rare gynecologic or obstetric disease +GARD:0019150,GARD:0022531,GARD:0021478,GARD:0012664,Rare genetic disease +GARD:0019150,GARD:0022536,GARD:0019149,GARD:0016665,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019150,GARD:0022514,GARD:0021478,GARD:0016665,Rare gynecologic or obstetric disease +GARD:0019150,GARD:0022513,GARD:0019149,GARD:0001465,Rare developmental defect during embryogenesis +GARD:0019150,GARD:0022532,GARD:0019149,GARD:0012664,Rare urogenital disease +GARD:0019150,GARD:0022521,GARD:0019149,GARD:0001469,Rare endocrine disease +GARD:0019150,GARD:0022514,GARD:0021478,GARD:0001469,Rare gynecologic or obstetric disease +GARD:0019150,GARD:0022531,GARD:0021478,GARD:0017033,Rare genetic disease +GARD:0019150,GARD:0022531,GARD:0021478,GARD:0016665,Rare genetic disease +GARD:0019150,GARD:0022531,GARD:0019149,GARD:0001465,Rare genetic disease +GARD:0019150,GARD:0022532,GARD:0019149,GARD:0016665,Rare urogenital disease +GARD:0019150,GARD:0022513,GARD:0019149,GARD:0012664,Rare developmental defect during embryogenesis +GARD:0019150,GARD:0022531,GARD:0021478,GARD:0009152,Rare genetic disease +GARD:0019150,GARD:0022532,GARD:0019149,GARD:0017033,Rare urogenital disease +GARD:0019150,GARD:0022536,GARD:0019149,GARD:0001469,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019150,GARD:0022514,GARD:0021478,GARD:0001465,Rare gynecologic or obstetric disease +GARD:0019150,GARD:0022513,GARD:0019149,GARD:0016665,Rare developmental defect during embryogenesis +GARD:0019150,GARD:0022536,GARD:0019149,GARD:0009152,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019150,GARD:0022536,GARD:0019149,GARD:0017033,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019150,GARD:0022521,GARD:0019149,GARD:0012664,Rare endocrine disease +GARD:0019150,GARD:0022513,GARD:0019149,GARD:0009152,Rare developmental defect during embryogenesis +GARD:0019150,GARD:0022521,GARD:0019149,GARD:0017033,Rare endocrine disease +GARD:0019150,GARD:0022514,GARD:0021478,GARD:0009152,Rare gynecologic or obstetric disease +GARD:0019150,GARD:0022521,GARD:0019149,GARD:0009152,Rare endocrine disease +GARD:0019150,GARD:0022532,GARD:0019149,GARD:0001465,Rare urogenital disease +GARD:0019150,GARD:0022531,GARD:0019149,GARD:0009152,Rare genetic disease +GARD:0019150,GARD:0022513,GARD:0019149,GARD:0017033,Rare developmental defect during embryogenesis +GARD:0019150,GARD:0022531,GARD:0019149,GARD:0012664,Rare genetic disease +GARD:0019150,GARD:0022531,GARD:0019149,GARD:0016665,Rare genetic disease +GARD:0019150,GARD:0022536,GARD:0019149,GARD:0012664,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019150,GARD:0022532,GARD:0019149,GARD:0009152,Rare urogenital disease +GARD:0019150,GARD:0022521,GARD:0019149,GARD:0001465,Rare endocrine disease +GARD:0019150,GARD:0022531,GARD:0021478,GARD:0001469,Rare genetic disease +GARD:0019150,GARD:0022531,GARD:0019149,GARD:0001469,Rare genetic disease +GARD:0019150,GARD:0022531,GARD:0021478,GARD:0001465,Rare genetic disease +GARD:0019150,GARD:0022514,GARD:0021478,GARD:0012664,Rare gynecologic or obstetric disease +GARD:0019150,GARD:0022532,GARD:0019149,GARD:0001469,Rare urogenital disease +GARD:0019151,GARD:0022521,GARD:0019149,GARD:0016794,Rare endocrine disease +GARD:0019151,GARD:0022513,GARD:0019149,GARD:0016794,Rare developmental defect during embryogenesis +GARD:0019151,GARD:0022532,GARD:0019149,GARD:0016794,Rare urogenital disease +GARD:0019151,GARD:0022531,GARD:0019149,GARD:0005659,Rare genetic disease +GARD:0019151,GARD:0022531,GARD:0021478,GARD:0005659,Rare genetic disease +GARD:0019151,GARD:0022536,GARD:0019149,GARD:0005659,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019151,GARD:0022532,GARD:0019149,GARD:0005659,Rare urogenital disease +GARD:0019151,GARD:0022536,GARD:0019149,GARD:0016794,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019151,GARD:0022521,GARD:0019149,GARD:0005659,Rare endocrine disease +GARD:0019151,GARD:0022514,GARD:0021478,GARD:0016794,Rare gynecologic or obstetric disease +GARD:0019151,GARD:0022531,GARD:0021478,GARD:0016794,Rare genetic disease +GARD:0019151,GARD:0022513,GARD:0019149,GARD:0005659,Rare developmental defect during embryogenesis +GARD:0019151,GARD:0022514,GARD:0021478,GARD:0005659,Rare gynecologic or obstetric disease +GARD:0019151,GARD:0022531,GARD:0019149,GARD:0016794,Rare genetic disease +GARD:0019152,GARD:0022531,GARD:0022508,GARD:0017990,Rare genetic disease +GARD:0019152,GARD:0022508,GARD:0022508,GARD:0017990,Rare inborn errors of metabolism +GARD:0019152,GARD:0022508,GARD:0022508,GARD:0012315,Rare inborn errors of metabolism +GARD:0019152,GARD:0022508,GARD:0022508,GARD:0016725,Rare inborn errors of metabolism +GARD:0019152,GARD:0022531,GARD:0022508,GARD:0017991,Rare genetic disease +GARD:0019152,GARD:0022508,GARD:0022508,GARD:0016916,Rare inborn errors of metabolism +GARD:0019152,GARD:0022508,GARD:0022508,GARD:0001874,Rare inborn errors of metabolism +GARD:0019152,GARD:0022508,GARD:0022508,GARD:0016917,Rare inborn errors of metabolism +GARD:0019152,GARD:0022531,GARD:0022508,GARD:0016916,Rare genetic disease +GARD:0019152,GARD:0022531,GARD:0022508,GARD:0016725,Rare genetic disease +GARD:0019152,GARD:0022508,GARD:0022508,GARD:0017991,Rare inborn errors of metabolism +GARD:0019152,GARD:0022508,GARD:0022508,GARD:0005784,Rare inborn errors of metabolism +GARD:0019152,GARD:0022531,GARD:0022508,GARD:0012315,Rare genetic disease +GARD:0019152,GARD:0022508,GARD:0022508,GARD:0001296,Rare inborn errors of metabolism +GARD:0019152,GARD:0022531,GARD:0022508,GARD:0016917,Rare genetic disease +GARD:0019152,GARD:0022531,GARD:0022508,GARD:0001296,Rare genetic disease +GARD:0019152,GARD:0022531,GARD:0022508,GARD:0001874,Rare genetic disease +GARD:0019152,GARD:0022531,GARD:0022508,GARD:0005784,Rare genetic disease +GARD:0019153,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0019154,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019154,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0019155,GARD:0022525,GARD:0018677,,Rare systemic or rheumatologic disease +GARD:0019155,GARD:0022517,GARD:0018677,,Rare respiratory disease +GARD:0019155,GARD:0022536,GARD:0018677,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019155,GARD:0021079,GARD:0018677,,Rare systemic or rheumatological disease of childhood +GARD:0019156,GARD:0022532,GARD:0019409,GARD:0021465,Rare urogenital disease +GARD:0019156,GARD:0022513,GARD:0019409,GARD:0021466,Rare developmental defect during embryogenesis +GARD:0019156,GARD:0022521,GARD:0019409,GARD:0021466,Rare endocrine disease +GARD:0019156,GARD:0022513,GARD:0019409,GARD:0021465,Rare developmental defect during embryogenesis +GARD:0019156,GARD:0022521,GARD:0019409,GARD:0021465,Rare endocrine disease +GARD:0019156,GARD:0022514,GARD:0019409,GARD:0021465,Rare gynecologic or obstetric disease +GARD:0019156,GARD:0022514,GARD:0019409,GARD:0021466,Rare gynecologic or obstetric disease +GARD:0019156,GARD:0022532,GARD:0019409,GARD:0021466,Rare urogenital disease +GARD:0019157,GARD:0022521,GARD:0021389,,Rare endocrine disease +GARD:0019157,GARD:0022535,GARD:0021389,,Rare neoplastic disease +GARD:0019158,GARD:0022521,GARD:0021389,,Rare endocrine disease +GARD:0019158,GARD:0022535,GARD:0021389,,Rare neoplastic disease +GARD:0019159,GARD:0022521,GARD:0019680,GARD:0021392,Rare endocrine disease +GARD:0019159,GARD:0022521,GARD:0019680,GARD:0021393,Rare endocrine disease +GARD:0019159,GARD:0022535,GARD:0019680,GARD:0021392,Rare neoplastic disease +GARD:0019159,GARD:0022535,GARD:0019680,GARD:0021393,Rare neoplastic disease +GARD:0019160,GARD:0022521,GARD:0019279,,Rare endocrine disease +GARD:0019161,GARD:0022521,GARD:0019765,,Rare endocrine disease +GARD:0019161,GARD:0022535,GARD:0019765,,Rare neoplastic disease +GARD:0019161,GARD:0022521,GARD:0019279,,Rare endocrine disease +GARD:0019162,GARD:0022536,GARD:0020732,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019162,GARD:0022535,GARD:0002005,,Rare neoplastic disease +GARD:0019162,GARD:0022536,GARD:0002005,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019162,GARD:0022535,GARD:0020732,,Rare neoplastic disease +GARD:0019162,GARD:0022521,GARD:0019279,,Rare endocrine disease +GARD:0019162,GARD:0022524,GARD:0020732,,Rare neurologic disease +GARD:0019163,GARD:0022521,GARD:0019280,,Rare endocrine disease +GARD:0019164,GARD:0022513,GARD:0019855,GARD:0019745,Rare developmental defect during embryogenesis +GARD:0019164,GARD:0022513,GARD:0019855,GARD:0019744,Rare developmental defect during embryogenesis +GARD:0019164,GARD:0022534,GARD:0019855,GARD:0019744,Rare abdominal surgical disease +GARD:0019164,GARD:0022531,GARD:0019855,GARD:0019745,Rare genetic disease +GARD:0019164,GARD:0022531,GARD:0019855,GARD:0019744,Rare genetic disease +GARD:0019164,GARD:0022534,GARD:0019855,GARD:0019745,Rare abdominal surgical disease +GARD:0019165,GARD:0022534,GARD:0019855,,Rare abdominal surgical disease +GARD:0019165,GARD:0022531,GARD:0019855,,Rare genetic disease +GARD:0019165,GARD:0022513,GARD:0019855,,Rare developmental defect during embryogenesis +GARD:0019166,GARD:0022517,GARD:0020925,,Rare respiratory disease +GARD:0019166,GARD:0022536,GARD:0020925,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019167,GARD:0022517,GARD:0013337,,Rare respiratory disease +GARD:0019167,GARD:0022536,GARD:0013337,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019168,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0019168,GARD:0022531,GARD:0019998,,Rare genetic disease +GARD:0019168,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0019168,GARD:0022520,GARD:0019498,,Rare ophthalmic disorder +GARD:0019168,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0019168,GARD:0022531,GARD:0019498,,Rare genetic disease +GARD:0019168,GARD:0022513,GARD:0019498,,Rare developmental defect during embryogenesis +GARD:0019169,GARD:0022513,GARD:0016484,,Rare developmental defect during embryogenesis +GARD:0019169,GARD:0022531,GARD:0016484,,Rare genetic disease +GARD:0019169,GARD:0022520,GARD:0016484,,Rare ophthalmic disorder +GARD:0019170,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0019170,GARD:0022524,GARD:0020357,,Rare neurologic disease +GARD:0019171,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0019172,GARD:0022531,GARD:0021540,GARD:0019373,Rare genetic disease +GARD:0019172,GARD:0022512,GARD:0019217,GARD:0019374,Rare renal disease +GARD:0019172,GARD:0022513,GARD:0019217,GARD:0019374,Rare developmental defect during embryogenesis +GARD:0019172,GARD:0022536,GARD:0019217,GARD:0019373,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019172,GARD:0022512,GARD:0019217,GARD:0019373,Rare renal disease +GARD:0019172,GARD:0022536,GARD:0019217,GARD:0019374,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019172,GARD:0022513,GARD:0019217,GARD:0019373,Rare developmental defect during embryogenesis +GARD:0019172,GARD:0022531,GARD:0021540,GARD:0019374,Rare genetic disease +GARD:0019173,GARD:0022531,GARD:0021540,GARD:0019178,Rare genetic disease +GARD:0019173,GARD:0022512,GARD:0019217,GARD:0019177,Rare renal disease +GARD:0019173,GARD:0022513,GARD:0019217,GARD:0019178,Rare developmental defect during embryogenesis +GARD:0019173,GARD:0022536,GARD:0019217,GARD:0019178,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019173,GARD:0022531,GARD:0021540,GARD:0019177,Rare genetic disease +GARD:0019173,GARD:0022536,GARD:0019217,GARD:0019177,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019173,GARD:0022513,GARD:0019217,GARD:0019177,Rare developmental defect during embryogenesis +GARD:0019173,GARD:0022512,GARD:0019217,GARD:0019178,Rare renal disease +GARD:0019174,GARD:0022513,GARD:0019217,GARD:0019179,Rare developmental defect during embryogenesis +GARD:0019174,GARD:0022536,GARD:0019217,GARD:0019180,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019174,GARD:0022513,GARD:0019217,GARD:0019180,Rare developmental defect during embryogenesis +GARD:0019174,GARD:0022512,GARD:0019217,GARD:0019180,Rare renal disease +GARD:0019174,GARD:0022512,GARD:0019217,GARD:0019179,Rare renal disease +GARD:0019174,GARD:0022536,GARD:0019217,GARD:0019179,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019175,GARD:0022536,GARD:0022292,GARD:0019380,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019175,GARD:0022512,GARD:0022292,GARD:0019380,Rare renal disease +GARD:0019175,GARD:0022536,GARD:0022292,GARD:0019379,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019175,GARD:0022512,GARD:0022292,GARD:0019379,Rare renal disease +GARD:0019176,GARD:0022512,GARD:0021861,,Rare renal disease +GARD:0019177,GARD:0022513,GARD:0019173,,Rare developmental defect during embryogenesis +GARD:0019177,GARD:0022512,GARD:0019173,,Rare renal disease +GARD:0019177,GARD:0022531,GARD:0019173,,Rare genetic disease +GARD:0019177,GARD:0022536,GARD:0019173,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019178,GARD:0022513,GARD:0019173,,Rare developmental defect during embryogenesis +GARD:0019178,GARD:0022536,GARD:0019173,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019178,GARD:0022512,GARD:0019173,,Rare renal disease +GARD:0019178,GARD:0022531,GARD:0019173,,Rare genetic disease +GARD:0019179,GARD:0022536,GARD:0019174,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019179,GARD:0022513,GARD:0019174,,Rare developmental defect during embryogenesis +GARD:0019179,GARD:0022512,GARD:0019174,,Rare renal disease +GARD:0019180,GARD:0022513,GARD:0019174,,Rare developmental defect during embryogenesis +GARD:0019180,GARD:0022512,GARD:0019174,,Rare renal disease +GARD:0019180,GARD:0022536,GARD:0019174,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019181,GARD:0022511,GARD:0006444,,Rare bone disease +GARD:0019181,GARD:0022513,GARD:0006444,,Rare developmental defect during embryogenesis +GARD:0019181,GARD:0022531,GARD:0006444,,Rare genetic disease +GARD:0019182,GARD:0022513,GARD:0018761,,Rare developmental defect during embryogenesis +GARD:0019182,GARD:0022531,GARD:0018761,,Rare genetic disease +GARD:0019182,GARD:0022511,GARD:0018761,,Rare bone disease +GARD:0019183,GARD:0022508,GARD:0007183,,Rare inborn errors of metabolism +GARD:0019183,GARD:0022520,GARD:0007183,,Rare ophthalmic disorder +GARD:0019183,GARD:0022531,GARD:0007183,,Rare genetic disease +GARD:0019183,GARD:0022524,GARD:0007183,,Rare neurologic disease +GARD:0019183,GARD:0022511,GARD:0007183,,Rare bone disease +GARD:0019183,GARD:0022512,GARD:0007183,,Rare renal disease +GARD:0019183,GARD:0022513,GARD:0007183,,Rare developmental defect during embryogenesis +GARD:0019184,GARD:0022520,GARD:0007183,,Rare ophthalmic disorder +GARD:0019184,GARD:0022531,GARD:0007183,,Rare genetic disease +GARD:0019184,GARD:0022513,GARD:0007183,,Rare developmental defect during embryogenesis +GARD:0019184,GARD:0022512,GARD:0007183,,Rare renal disease +GARD:0019184,GARD:0022508,GARD:0007183,,Rare inborn errors of metabolism +GARD:0019184,GARD:0022511,GARD:0007183,,Rare bone disease +GARD:0019184,GARD:0022524,GARD:0007183,,Rare neurologic disease +GARD:0019185,GARD:0022531,GARD:0021575,GARD:0009443,Rare genetic disease +GARD:0019185,GARD:0022531,GARD:0021575,GARD:0006724,Rare genetic disease +GARD:0019185,GARD:0022531,GARD:0021575,GARD:0000085,Rare genetic disease +GARD:0019185,GARD:0022531,GARD:0021575,GARD:0010012,Rare genetic disease +GARD:0019185,GARD:0022531,GARD:0021575,GARD:0008173,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0016812,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0004994,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0004382,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0004130,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0010914,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0004987,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0016815,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0004991,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0017012,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0005018,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0008713,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0000134,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0010220,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0006874,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0006841,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0017812,Rare genetic disease +GARD:0019186,GARD:0022531,GARD:0021575,GARD:0000504,Rare genetic disease +GARD:0019187,GARD:0022531,GARD:0021575,GARD:0006984,Rare genetic disease +GARD:0019187,GARD:0022531,GARD:0021575,GARD:0005020,Rare genetic disease +GARD:0019187,GARD:0022531,GARD:0021575,GARD:0005021,Rare genetic disease +GARD:0019187,GARD:0022531,GARD:0021575,GARD:0002321,Rare genetic disease +GARD:0019187,GARD:0022531,GARD:0021575,GARD:0004130,Rare genetic disease +GARD:0019187,GARD:0022531,GARD:0021575,GARD:0021838,Rare genetic disease +GARD:0019188,GARD:0022531,GARD:0021575,GARD:0000460,Rare genetic disease +GARD:0019188,GARD:0022531,GARD:0021575,GARD:0016813,Rare genetic disease +GARD:0019188,GARD:0022531,GARD:0021575,GARD:0009793,Rare genetic disease +GARD:0019188,GARD:0022531,GARD:0021575,GARD:0008329,Rare genetic disease +GARD:0019188,GARD:0022531,GARD:0021575,GARD:0006275,Rare genetic disease +GARD:0019189,GARD:0022531,GARD:0021575,GARD:0002026,Rare genetic disease +GARD:0019189,GARD:0022531,GARD:0021575,GARD:0000250,Rare genetic disease +GARD:0019190,GARD:0022531,GARD:0021575,GARD:0006860,Rare genetic disease +GARD:0019190,GARD:0022531,GARD:0021575,GARD:0000933,Rare genetic disease +GARD:0019190,GARD:0022531,GARD:0021575,GARD:0009287,Rare genetic disease +GARD:0019190,GARD:0022531,GARD:0021575,GARD:0010608,Rare genetic disease +GARD:0019190,GARD:0022531,GARD:0021575,GARD:0021570,Rare genetic disease +GARD:0019190,GARD:0022531,GARD:0021575,GARD:0016769,Rare genetic disease +GARD:0019190,GARD:0022531,GARD:0021575,GARD:0004974,Rare genetic disease +GARD:0019191,GARD:0022531,GARD:0021567,GARD:0002690,Rare genetic disease +GARD:0019191,GARD:0022513,GARD:0021567,GARD:0020098,Rare developmental defect during embryogenesis +GARD:0019191,GARD:0022531,GARD:0021567,GARD:0000264,Rare genetic disease +GARD:0019191,GARD:0022511,GARD:0021567,GARD:0010756,Rare bone disease +GARD:0019191,GARD:0022531,GARD:0021567,GARD:0010756,Rare genetic disease +GARD:0019191,GARD:0022531,GARD:0021567,GARD:0020098,Rare genetic disease +GARD:0019191,GARD:0022531,GARD:0021567,GARD:0017203,Rare genetic disease +GARD:0019191,GARD:0022511,GARD:0021567,GARD:0000264,Rare bone disease +GARD:0019191,GARD:0022513,GARD:0021567,GARD:0000264,Rare developmental defect during embryogenesis +GARD:0019191,GARD:0022511,GARD:0021567,GARD:0002690,Rare bone disease +GARD:0019191,GARD:0022511,GARD:0021567,GARD:0020098,Rare bone disease +GARD:0019191,GARD:0022513,GARD:0021567,GARD:0002690,Rare developmental defect during embryogenesis +GARD:0019191,GARD:0022513,GARD:0021567,GARD:0004540,Rare developmental defect during embryogenesis +GARD:0019191,GARD:0022513,GARD:0021567,GARD:0017203,Rare developmental defect during embryogenesis +GARD:0019191,GARD:0022511,GARD:0021567,GARD:0017203,Rare bone disease +GARD:0019191,GARD:0022511,GARD:0021567,GARD:0004540,Rare bone disease +GARD:0019191,GARD:0022513,GARD:0021567,GARD:0010756,Rare developmental defect during embryogenesis +GARD:0019191,GARD:0022531,GARD:0021567,GARD:0004540,Rare genetic disease +GARD:0019192,GARD:0022511,GARD:0021567,GARD:0006996,Rare bone disease +GARD:0019192,GARD:0022511,GARD:0021567,GARD:0003566,Rare bone disease +GARD:0019192,GARD:0022531,GARD:0021567,GARD:0017018,Rare genetic disease +GARD:0019192,GARD:0022513,GARD:0021567,GARD:0004740,Rare developmental defect during embryogenesis +GARD:0019192,GARD:0022531,GARD:0021567,GARD:0003562,Rare genetic disease +GARD:0019192,GARD:0022511,GARD:0021567,GARD:0004863,Rare bone disease +GARD:0019192,GARD:0022513,GARD:0021567,GARD:0000079,Rare developmental defect during embryogenesis +GARD:0019192,GARD:0022513,GARD:0021567,GARD:0003519,Rare developmental defect during embryogenesis +GARD:0019192,GARD:0022513,GARD:0021567,GARD:0007029,Rare developmental defect during embryogenesis +GARD:0019192,GARD:0022511,GARD:0021567,GARD:0017018,Rare bone disease +GARD:0019192,GARD:0022513,GARD:0021567,GARD:0004863,Rare developmental defect during embryogenesis +GARD:0019192,GARD:0022531,GARD:0021567,GARD:0007029,Rare genetic disease +GARD:0019192,GARD:0022531,GARD:0021567,GARD:0000079,Rare genetic disease +GARD:0019192,GARD:0022511,GARD:0021567,GARD:0016698,Rare bone disease +GARD:0019192,GARD:0022511,GARD:0021567,GARD:0007029,Rare bone disease +GARD:0019192,GARD:0022511,GARD:0021567,GARD:0004740,Rare bone disease +GARD:0019192,GARD:0022511,GARD:0021567,GARD:0003563,Rare bone disease +GARD:0019192,GARD:0022511,GARD:0021567,GARD:0003568,Rare bone disease +GARD:0019192,GARD:0022511,GARD:0021567,GARD:0003519,Rare bone disease +GARD:0019192,GARD:0022531,GARD:0021567,GARD:0004740,Rare genetic disease +GARD:0019192,GARD:0022531,GARD:0021567,GARD:0003566,Rare genetic disease +GARD:0019192,GARD:0022531,GARD:0021567,GARD:0004863,Rare genetic disease +GARD:0019192,GARD:0022531,GARD:0021567,GARD:0016698,Rare genetic disease +GARD:0019192,GARD:0022511,GARD:0021567,GARD:0000079,Rare bone disease +GARD:0019192,GARD:0022513,GARD:0021567,GARD:0003566,Rare developmental defect during embryogenesis +GARD:0019192,GARD:0022513,GARD:0021567,GARD:0017018,Rare developmental defect during embryogenesis +GARD:0019192,GARD:0022513,GARD:0021567,GARD:0006996,Rare developmental defect during embryogenesis +GARD:0019192,GARD:0022531,GARD:0021567,GARD:0003563,Rare genetic disease +GARD:0019192,GARD:0022513,GARD:0021567,GARD:0003568,Rare developmental defect during embryogenesis +GARD:0019192,GARD:0022513,GARD:0021567,GARD:0016698,Rare developmental defect during embryogenesis +GARD:0019192,GARD:0022513,GARD:0021567,GARD:0003562,Rare developmental defect during embryogenesis +GARD:0019192,GARD:0022531,GARD:0021567,GARD:0006996,Rare genetic disease +GARD:0019192,GARD:0022531,GARD:0021567,GARD:0003568,Rare genetic disease +GARD:0019192,GARD:0022511,GARD:0021567,GARD:0003562,Rare bone disease +GARD:0019192,GARD:0022513,GARD:0021567,GARD:0003563,Rare developmental defect during embryogenesis +GARD:0019192,GARD:0022531,GARD:0021567,GARD:0003519,Rare genetic disease +GARD:0019193,GARD:0022513,GARD:0021567,GARD:0017667,Rare developmental defect during embryogenesis +GARD:0019193,GARD:0022511,GARD:0021567,GARD:0004993,Rare bone disease +GARD:0019193,GARD:0022531,GARD:0021567,GARD:0022070,Rare genetic disease +GARD:0019193,GARD:0022513,GARD:0021567,GARD:0004382,Rare developmental defect during embryogenesis +GARD:0019193,GARD:0022511,GARD:0021567,GARD:0016674,Rare bone disease +GARD:0019193,GARD:0022511,GARD:0021567,GARD:0003520,Rare bone disease +GARD:0019193,GARD:0022511,GARD:0021567,GARD:0022491,Rare bone disease +GARD:0019193,GARD:0022511,GARD:0021567,GARD:0002882,Rare bone disease +GARD:0019193,GARD:0022531,GARD:0021567,GARD:0004974,Rare genetic disease +GARD:0019193,GARD:0022513,GARD:0021567,GARD:0022070,Rare developmental defect during embryogenesis +GARD:0019193,GARD:0022513,GARD:0021567,GARD:0022491,Rare developmental defect during embryogenesis +GARD:0019193,GARD:0022513,GARD:0021567,GARD:0010903,Rare developmental defect during embryogenesis +GARD:0019193,GARD:0022513,GARD:0021567,GARD:0004972,Rare developmental defect during embryogenesis +GARD:0019193,GARD:0022513,GARD:0021567,GARD:0003520,Rare developmental defect during embryogenesis +GARD:0019193,GARD:0022511,GARD:0021567,GARD:0004098,Rare bone disease +GARD:0019193,GARD:0022511,GARD:0021567,GARD:0004382,Rare bone disease +GARD:0019193,GARD:0022511,GARD:0021567,GARD:0017667,Rare bone disease +GARD:0019193,GARD:0022511,GARD:0021567,GARD:0000169,Rare bone disease +GARD:0019193,GARD:0022513,GARD:0021567,GARD:0004974,Rare developmental defect during embryogenesis +GARD:0019193,GARD:0022511,GARD:0021567,GARD:0004972,Rare bone disease +GARD:0019193,GARD:0022531,GARD:0021567,GARD:0004098,Rare genetic disease +GARD:0019193,GARD:0022531,GARD:0021567,GARD:0004972,Rare genetic disease +GARD:0019193,GARD:0022531,GARD:0021567,GARD:0016674,Rare genetic disease +GARD:0019193,GARD:0022513,GARD:0021567,GARD:0016674,Rare developmental defect during embryogenesis +GARD:0019193,GARD:0022531,GARD:0021567,GARD:0002882,Rare genetic disease +GARD:0019193,GARD:0022531,GARD:0021567,GARD:0000169,Rare genetic disease +GARD:0019193,GARD:0022511,GARD:0021567,GARD:0022070,Rare bone disease +GARD:0019193,GARD:0022513,GARD:0021567,GARD:0000169,Rare developmental defect during embryogenesis +GARD:0019193,GARD:0022531,GARD:0021567,GARD:0004382,Rare genetic disease +GARD:0019193,GARD:0022531,GARD:0021567,GARD:0022491,Rare genetic disease +GARD:0019193,GARD:0022531,GARD:0021567,GARD:0004993,Rare genetic disease +GARD:0019193,GARD:0022511,GARD:0021567,GARD:0010903,Rare bone disease +GARD:0019193,GARD:0022531,GARD:0021567,GARD:0010903,Rare genetic disease +GARD:0019193,GARD:0022513,GARD:0021567,GARD:0002882,Rare developmental defect during embryogenesis +GARD:0019193,GARD:0022511,GARD:0021567,GARD:0004974,Rare bone disease +GARD:0019193,GARD:0022531,GARD:0021567,GARD:0017667,Rare genetic disease +GARD:0019193,GARD:0022513,GARD:0021567,GARD:0004993,Rare developmental defect during embryogenesis +GARD:0019193,GARD:0022513,GARD:0021567,GARD:0004098,Rare developmental defect during embryogenesis +GARD:0019193,GARD:0022531,GARD:0021567,GARD:0003520,Rare genetic disease +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0021451,Rare developmental defect during embryogenesis +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0000671,Rare bone disease +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0005724,Rare bone disease +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0000671,Rare developmental defect during embryogenesis +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0002449,Rare genetic disease +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0002015,Rare genetic disease +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0000671,Rare genetic disease +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0016769,Rare bone disease +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0000007,Rare bone disease +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0002449,Rare bone disease +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0005770,Rare genetic disease +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0022495,Rare genetic disease +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0017817,Rare developmental defect during embryogenesis +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0010605,Rare genetic disease +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0022495,Rare bone disease +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0010605,Rare developmental defect during embryogenesis +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0002572,Rare developmental defect during embryogenesis +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0019049,Rare bone disease +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0016769,Rare developmental defect during embryogenesis +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0002572,Rare genetic disease +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0005770,Rare bone disease +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0002015,Rare bone disease +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0017817,Rare bone disease +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0021451,Rare genetic disease +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0019049,Rare genetic disease +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0010605,Rare bone disease +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0005724,Rare genetic disease +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0000257,Rare developmental defect during embryogenesis +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0002015,Rare developmental defect during embryogenesis +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0016769,Rare genetic disease +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0005770,Rare developmental defect during embryogenesis +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0000007,Rare developmental defect during embryogenesis +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0017817,Rare genetic disease +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0004936,Rare genetic disease +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0005724,Rare developmental defect during embryogenesis +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0000257,Rare bone disease +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0004936,Rare developmental defect during embryogenesis +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0000257,Rare genetic disease +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0002449,Rare developmental defect during embryogenesis +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0004936,Rare bone disease +GARD:0019194,GARD:0022531,GARD:0021567,GARD:0000007,Rare genetic disease +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0022495,Rare developmental defect during embryogenesis +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0021451,Rare bone disease +GARD:0019194,GARD:0022511,GARD:0021567,GARD:0002572,Rare bone disease +GARD:0019194,GARD:0022513,GARD:0021567,GARD:0019049,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0017707,Rare bone disease +GARD:0019195,GARD:0022531,GARD:0021567,GARD:0018015,Rare genetic disease +GARD:0019195,GARD:0022513,GARD:0021567,GARD:0003553,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022531,GARD:0021567,GARD:0003074,Rare genetic disease +GARD:0019195,GARD:0022531,GARD:0021567,GARD:0017707,Rare genetic disease +GARD:0019195,GARD:0022531,GARD:0021567,GARD:0004703,Rare genetic disease +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0003224,Rare bone disease +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0004705,Rare bone disease +GARD:0019195,GARD:0022513,GARD:0021567,GARD:0003554,Rare developmental defect during embryogenesis 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+GARD:0019195,GARD:0022513,GARD:0021567,GARD:0003552,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022513,GARD:0021567,GARD:0005532,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0005532,Rare bone disease +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0010584,Rare bone disease +GARD:0019195,GARD:0022531,GARD:0021567,GARD:0002321,Rare genetic disease +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0021838,Rare bone disease +GARD:0019195,GARD:0022513,GARD:0021567,GARD:0003074,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022531,GARD:0021567,GARD:0016608,Rare genetic disease +GARD:0019195,GARD:0022531,GARD:0021567,GARD:0008329,Rare genetic disease +GARD:0019195,GARD:0022513,GARD:0021567,GARD:0001994,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0017007,Rare bone disease +GARD:0019195,GARD:0022513,GARD:0021567,GARD:0017633,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022513,GARD:0021567,GARD:0017007,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022531,GARD:0021567,GARD:0017007,Rare genetic disease +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0003074,Rare bone disease +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0003555,Rare bone disease +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0016608,Rare bone disease +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0000312,Rare bone disease +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0003554,Rare bone disease +GARD:0019195,GARD:0022513,GARD:0021567,GARD:0017707,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0003553,Rare bone disease +GARD:0019195,GARD:0022531,GARD:0021567,GARD:0003555,Rare genetic disease +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0018015,Rare bone disease +GARD:0019195,GARD:0022531,GARD:0021567,GARD:0001994,Rare genetic disease +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0001994,Rare bone disease +GARD:0019195,GARD:0022513,GARD:0021567,GARD:0000312,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022531,GARD:0021567,GARD:0003553,Rare genetic disease +GARD:0019195,GARD:0022513,GARD:0021567,GARD:0017434,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022531,GARD:0021567,GARD:0004705,Rare genetic disease +GARD:0019195,GARD:0022513,GARD:0021567,GARD:0018015,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0008329,Rare bone disease +GARD:0019195,GARD:0022513,GARD:0021567,GARD:0002408,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022513,GARD:0021567,GARD:0008329,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022531,GARD:0021567,GARD:0010584,Rare genetic disease +GARD:0019195,GARD:0022513,GARD:0021567,GARD:0003555,Rare developmental defect during embryogenesis +GARD:0019195,GARD:0022511,GARD:0021567,GARD:0017633,Rare bone disease 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+GARD:0019196,GARD:0022531,GARD:0021567,GARD:0005232,Rare genetic disease +GARD:0019196,GARD:0022531,GARD:0021567,GARD:0004222,Rare genetic disease +GARD:0019196,GARD:0022513,GARD:0021567,GARD:0010149,Rare developmental defect during embryogenesis +GARD:0019196,GARD:0022511,GARD:0021567,GARD:0000916,Rare bone disease +GARD:0019196,GARD:0022513,GARD:0021567,GARD:0005045,Rare developmental defect during embryogenesis +GARD:0019196,GARD:0022531,GARD:0021567,GARD:0001061,Rare genetic disease +GARD:0019196,GARD:0022513,GARD:0021567,GARD:0001061,Rare developmental defect during embryogenesis +GARD:0019196,GARD:0022511,GARD:0021567,GARD:0010965,Rare bone disease +GARD:0019196,GARD:0022513,GARD:0021567,GARD:0010027,Rare developmental defect during embryogenesis +GARD:0019196,GARD:0022511,GARD:0021567,GARD:0001061,Rare bone disease +GARD:0019196,GARD:0022531,GARD:0021567,GARD:0010149,Rare genetic disease +GARD:0019196,GARD:0022531,GARD:0021567,GARD:0010027,Rare genetic disease +GARD:0019196,GARD:0022513,GARD:0021567,GARD:0005232,Rare developmental defect during embryogenesis +GARD:0019196,GARD:0022531,GARD:0021567,GARD:0000916,Rare genetic disease +GARD:0019196,GARD:0022511,GARD:0021567,GARD:0004222,Rare bone disease +GARD:0019196,GARD:0022511,GARD:0021567,GARD:0000953,Rare bone disease +GARD:0019196,GARD:0022531,GARD:0021567,GARD:0021436,Rare genetic disease +GARD:0019196,GARD:0022513,GARD:0021567,GARD:0004222,Rare developmental defect during embryogenesis +GARD:0019196,GARD:0022511,GARD:0021567,GARD:0021436,Rare bone disease +GARD:0019196,GARD:0022511,GARD:0021567,GARD:0010149,Rare bone disease +GARD:0019196,GARD:0022513,GARD:0021567,GARD:0021436,Rare developmental defect during embryogenesis +GARD:0019196,GARD:0022511,GARD:0021567,GARD:0010027,Rare bone disease +GARD:0019196,GARD:0022513,GARD:0021567,GARD:0000916,Rare developmental defect during embryogenesis +GARD:0019196,GARD:0022511,GARD:0021567,GARD:0005045,Rare bone disease +GARD:0019196,GARD:0022513,GARD:0021567,GARD:0010965,Rare developmental defect during embryogenesis +GARD:0019196,GARD:0022513,GARD:0021567,GARD:0000953,Rare developmental defect during embryogenesis +GARD:0019196,GARD:0022531,GARD:0021567,GARD:0010965,Rare genetic disease +GARD:0019196,GARD:0022531,GARD:0021567,GARD:0000953,Rare genetic disease +GARD:0019196,GARD:0022511,GARD:0021567,GARD:0005232,Rare bone disease +GARD:0019196,GARD:0022531,GARD:0021567,GARD:0005045,Rare genetic disease +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0002033,Rare bone disease +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0002033,Rare genetic disease +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0008562,Rare genetic disease +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0016736,Rare genetic disease +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0003602,Rare genetic disease +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0000288,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0012312,Rare genetic disease +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0005667,Rare bone disease +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0005120,Rare bone disease +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0003396,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0018727,Rare bone disease +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0022314,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0009844,Rare genetic disease +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0003602,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0017419,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0022314,Rare genetic disease +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0005667,Rare genetic disease +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0000290,Rare bone disease +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0016736,Rare bone disease +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0017419,Rare genetic disease +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0018727,Rare genetic disease +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0022314,Rare bone disease +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0016736,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0016646,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0008562,Rare bone disease +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0012312,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0000290,Rare genetic disease +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0012312,Rare bone disease +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0016594,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0003396,Rare genetic disease +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0018727,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0003396,Rare bone disease +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0003602,Rare bone disease +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0017419,Rare bone disease +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0016594,Rare bone disease +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0016594,Rare genetic disease +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0009844,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0009844,Rare bone disease +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0005667,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0005120,Rare genetic disease +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0005120,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0000288,Rare genetic disease +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0000290,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0016646,Rare bone disease +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0002033,Rare developmental defect during embryogenesis +GARD:0019197,GARD:0022511,GARD:0021567,GARD:0000288,Rare bone disease +GARD:0019197,GARD:0022531,GARD:0021567,GARD:0016646,Rare genetic disease +GARD:0019197,GARD:0022513,GARD:0021567,GARD:0008562,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0004982,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0011009,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0004982,Rare bone disease +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0009287,Rare genetic disease +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0001818,Rare genetic disease +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0017963,Rare bone disease +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0022350,Rare bone disease +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0001558,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0010608,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0003181,Rare genetic disease +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0017735,Rare bone disease +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0001818,Rare bone disease +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0006860,Rare bone disease +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0009866,Rare bone disease +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0008663,Rare bone disease +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0003181,Rare bone disease +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0001558,Rare genetic disease +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0016595,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0011009,Rare bone disease +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0001818,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0017308,Rare genetic disease +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0017735,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0022350,Rare genetic disease +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0013169,Rare genetic disease +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0009463,Rare bone disease +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0009287,Rare bone disease +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0017963,Rare genetic disease +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0000933,Rare bone disease +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0009287,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0016595,Rare genetic disease +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0006860,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0001558,Rare bone disease +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0016595,Rare bone disease +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0017735,Rare genetic disease +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0013169,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0017963,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0000933,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0022350,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0017308,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0009463,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0003181,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0010608,Rare bone disease +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0008663,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0013169,Rare bone disease +GARD:0019198,GARD:0022513,GARD:0021567,GARD:0009866,Rare developmental defect during embryogenesis +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0009866,Rare genetic disease +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0009463,Rare genetic disease +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0006860,Rare genetic disease +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0000933,Rare genetic disease +GARD:0019198,GARD:0022511,GARD:0021567,GARD:0017308,Rare bone disease +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0008663,Rare genetic disease +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0011009,Rare genetic disease +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0010608,Rare genetic disease +GARD:0019198,GARD:0022531,GARD:0021567,GARD:0004982,Rare genetic disease +GARD:0019199,GARD:0022531,GARD:0019200,GARD:0010283,Rare genetic disease +GARD:0019199,GARD:0022513,GARD:0019200,GARD:0010283,Rare developmental defect during embryogenesis +GARD:0019199,GARD:0022511,GARD:0019200,GARD:0010283,Rare bone disease +GARD:0019199,GARD:0022511,GARD:0019200,GARD:0001051,Rare bone disease +GARD:0019199,GARD:0022531,GARD:0019200,GARD:0001051,Rare genetic disease +GARD:0019199,GARD:0022511,GARD:0019200,GARD:0000282,Rare bone disease +GARD:0019199,GARD:0022513,GARD:0019200,GARD:0000914,Rare developmental defect during embryogenesis +GARD:0019199,GARD:0022531,GARD:0019200,GARD:0000914,Rare genetic disease +GARD:0019199,GARD:0022531,GARD:0019200,GARD:0000282,Rare genetic disease +GARD:0019199,GARD:0022511,GARD:0019200,GARD:0000914,Rare bone disease +GARD:0019199,GARD:0022513,GARD:0019200,GARD:0000282,Rare developmental defect during embryogenesis +GARD:0019199,GARD:0022513,GARD:0019200,GARD:0001051,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0010072,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0003223,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0009904,Rare genetic disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0016738,Rare bone disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0002831,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0001072,Rare bone disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0021439,Rare bone disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0003223,Rare bone disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0010072,Rare bone disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0021366,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0007799,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0003223,Rare genetic disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0010899,Rare bone disease +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0000390,Rare genetic disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0005562,Rare bone disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0021491,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0009904,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0001058,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0004155,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0004612,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0019199,Rare genetic disease +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0015013,Rare genetic disease 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+GARD:0019200,GARD:0022531,GARD:0021567,GARD:0010297,Rare genetic disease +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0016738,Rare genetic disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0019199,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0021366,Rare bone disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0020667,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0017753,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0002022,Rare bone disease +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0004612,Rare genetic disease +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0004771,Rare genetic disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0001058,Rare bone disease +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0007799,Rare genetic disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0007239,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0000390,Rare bone disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0002833,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0001195,Rare genetic disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0001567,Rare bone disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0010297,Rare bone disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0002016,Rare bone disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0001567,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0004155,Rare genetic disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0002016,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0004612,Rare bone disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0015013,Rare bone disease +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0002016,Rare genetic disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0017753,Rare bone disease +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0010072,Rare genetic disease +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0021439,Rare genetic disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0010297,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0007239,Rare bone disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0000390,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0001058,Rare genetic disease +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0016737,Rare genetic disease +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0017753,Rare genetic disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0007799,Rare bone disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0004771,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0007239,Rare genetic disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0020667,Rare bone disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0021491,Rare bone disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0015013,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0016738,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0010899,Rare genetic disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0019199,Rare bone disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0002022,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0000351,Rare genetic disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0016737,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0001195,Rare bone disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0004155,Rare bone disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0004771,Rare bone disease +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0001072,Rare genetic disease +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0001195,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0021439,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022513,GARD:0021567,GARD:0005562,Rare developmental defect during embryogenesis +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0021366,Rare genetic disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0000351,Rare bone disease +GARD:0019200,GARD:0022531,GARD:0021567,GARD:0001567,Rare genetic disease +GARD:0019200,GARD:0022511,GARD:0021567,GARD:0002833,Rare bone disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0017975,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0018778,Rare bone disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0016739,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0001425,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0016740,Rare bone disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0008698,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0000122,Rare genetic disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0021408,Rare genetic disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0002559,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0001017,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0017975,Rare bone disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0010290,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0012413,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0017807,Rare bone disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0012413,Rare bone disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0000404,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0017156,Rare genetic disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0017807,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0008698,Rare genetic disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0018778,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0002559,Rare genetic disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0017974,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0004139,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0017974,Rare genetic disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0016740,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0000354,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0004160,Rare bone disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0001029,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0004160,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0000413,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0000122,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0001017,Rare genetic disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0001017,Rare bone disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0010290,Rare bone disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0006760,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0000354,Rare genetic disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0022031,Rare genetic disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0000404,Rare genetic disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0019134,Rare genetic disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0019134,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0004160,Rare genetic disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0016739,Rare genetic disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0022031,Rare bone disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0006760,Rare genetic disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0019134,Rare bone disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0017156,Rare bone disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0000587,Rare genetic disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0008698,Rare bone disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0017614,Rare bone disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0000587,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0006760,Rare bone disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0004139,Rare genetic disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0000122,Rare bone disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0010290,Rare genetic disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0000587,Rare bone disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0017614,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0000404,Rare bone disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0016739,Rare bone disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0017975,Rare genetic disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0001029,Rare bone disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0018778,Rare genetic disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0002559,Rare bone disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0016740,Rare genetic disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0000413,Rare bone disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0017614,Rare genetic disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0000413,Rare genetic disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0000354,Rare bone disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0004139,Rare bone disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0021408,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0017156,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0001425,Rare bone disease +GARD:0019201,GARD:0022513,GARD:0021567,GARD:0022031,Rare developmental defect during embryogenesis +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0017974,Rare bone disease +GARD:0019201,GARD:0022511,GARD:0021567,GARD:0021408,Rare bone disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0001425,Rare genetic disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0001029,Rare genetic disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0017807,Rare genetic disease +GARD:0019201,GARD:0022531,GARD:0021567,GARD:0012413,Rare genetic disease +GARD:0019202,GARD:0022513,GARD:0021567,GARD:0017993,Rare developmental defect during embryogenesis +GARD:0019202,GARD:0022513,GARD:0021567,GARD:0002838,Rare developmental defect during embryogenesis +GARD:0019202,GARD:0022511,GARD:0021567,GARD:0002838,Rare bone disease +GARD:0019202,GARD:0022531,GARD:0021567,GARD:0016646,Rare genetic disease +GARD:0019202,GARD:0022513,GARD:0021567,GARD:0018921,Rare developmental defect during embryogenesis +GARD:0019202,GARD:0022511,GARD:0021567,GARD:0017993,Rare bone disease +GARD:0019202,GARD:0022513,GARD:0021567,GARD:0016698,Rare developmental defect during embryogenesis +GARD:0019202,GARD:0022531,GARD:0021567,GARD:0018921,Rare genetic disease +GARD:0019202,GARD:0022511,GARD:0021567,GARD:0001292,Rare bone disease +GARD:0019202,GARD:0022511,GARD:0021567,GARD:0006734,Rare bone disease +GARD:0019202,GARD:0022513,GARD:0021567,GARD:0016646,Rare developmental defect during embryogenesis +GARD:0019202,GARD:0022511,GARD:0021567,GARD:0016646,Rare bone disease +GARD:0019202,GARD:0022531,GARD:0021567,GARD:0021132,Rare genetic disease +GARD:0019202,GARD:0022531,GARD:0021567,GARD:0002838,Rare genetic disease +GARD:0019202,GARD:0022513,GARD:0021567,GARD:0021132,Rare developmental defect during embryogenesis +GARD:0019202,GARD:0022531,GARD:0021567,GARD:0006734,Rare genetic disease +GARD:0019202,GARD:0022531,GARD:0021567,GARD:0017993,Rare genetic disease +GARD:0019202,GARD:0022531,GARD:0021567,GARD:0001292,Rare genetic disease +GARD:0019202,GARD:0022513,GARD:0021567,GARD:0006734,Rare developmental defect during embryogenesis +GARD:0019202,GARD:0022513,GARD:0021567,GARD:0010828,Rare developmental defect during embryogenesis +GARD:0019202,GARD:0022531,GARD:0021567,GARD:0010828,Rare genetic disease +GARD:0019202,GARD:0022513,GARD:0021567,GARD:0001292,Rare developmental defect during embryogenesis +GARD:0019202,GARD:0022531,GARD:0021567,GARD:0016698,Rare genetic disease +GARD:0019202,GARD:0022511,GARD:0021567,GARD:0021132,Rare bone disease +GARD:0019202,GARD:0022511,GARD:0021567,GARD:0016698,Rare bone disease +GARD:0019202,GARD:0022511,GARD:0021567,GARD:0018921,Rare bone disease +GARD:0019202,GARD:0022511,GARD:0021567,GARD:0010828,Rare bone disease +GARD:0019203,GARD:0022531,GARD:0020288,GARD:0010335,Rare genetic disease +GARD:0019203,GARD:0022531,GARD:0020288,GARD:0006968,Rare genetic disease +GARD:0019203,GARD:0022531,GARD:0020288,GARD:0006675,Rare genetic disease +GARD:0019203,GARD:0022531,GARD:0020288,GARD:0000175,Rare genetic disease +GARD:0019203,GARD:0022511,GARD:0022511,GARD:0007095,Rare bone disease +GARD:0019203,GARD:0022511,GARD:0022511,GARD:0010335,Rare bone disease +GARD:0019203,GARD:0022511,GARD:0022511,GARD:0003806,Rare bone disease +GARD:0019203,GARD:0022531,GARD:0020288,GARD:0007096,Rare genetic disease +GARD:0019203,GARD:0022511,GARD:0022511,GARD:0006473,Rare bone disease +GARD:0019203,GARD:0022531,GARD:0020288,GARD:0003806,Rare genetic disease +GARD:0019203,GARD:0022511,GARD:0022511,GARD:0007096,Rare bone disease +GARD:0019203,GARD:0022531,GARD:0020288,GARD:0016675,Rare genetic disease +GARD:0019203,GARD:0022531,GARD:0020288,GARD:0000869,Rare genetic disease +GARD:0019203,GARD:0022531,GARD:0020288,GARD:0005061,Rare genetic disease +GARD:0019203,GARD:0022511,GARD:0022511,GARD:0000175,Rare bone disease +GARD:0019203,GARD:0022511,GARD:0022511,GARD:0007183,Rare bone disease +GARD:0019203,GARD:0022531,GARD:0020288,GARD:0006749,Rare genetic disease +GARD:0019203,GARD:0022531,GARD:0020288,GARD:0007183,Rare genetic disease +GARD:0019203,GARD:0022511,GARD:0022511,GARD:0005854,Rare bone disease +GARD:0019203,GARD:0022531,GARD:0020288,GARD:0012562,Rare genetic disease +GARD:0019203,GARD:0022531,GARD:0020288,GARD:0003807,Rare genetic disease 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disease +GARD:0019203,GARD:0022511,GARD:0022511,GARD:0012562,Rare bone disease +GARD:0019204,GARD:0022511,GARD:0021567,GARD:0009168,Rare bone disease +GARD:0019204,GARD:0022513,GARD:0021567,GARD:0010061,Rare developmental defect during embryogenesis +GARD:0019204,GARD:0022513,GARD:0021567,GARD:0004299,Rare developmental defect during embryogenesis +GARD:0019204,GARD:0022513,GARD:0021567,GARD:0021524,Rare developmental defect during embryogenesis +GARD:0019204,GARD:0022511,GARD:0021567,GARD:0000508,Rare bone disease +GARD:0019204,GARD:0022511,GARD:0021567,GARD:0022029,Rare bone disease +GARD:0019204,GARD:0022511,GARD:0021567,GARD:0007467,Rare bone disease +GARD:0019204,GARD:0022511,GARD:0021567,GARD:0004189,Rare bone disease +GARD:0019204,GARD:0022513,GARD:0021567,GARD:0011893,Rare developmental defect during embryogenesis +GARD:0019204,GARD:0022531,GARD:0021567,GARD:0004189,Rare genetic disease +GARD:0019204,GARD:0022511,GARD:0021567,GARD:0011008,Rare bone disease 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+GARD:0019204,GARD:0022531,GARD:0021567,GARD:0010061,Rare genetic disease +GARD:0019204,GARD:0022513,GARD:0021567,GARD:0017610,Rare developmental defect during embryogenesis +GARD:0019204,GARD:0022511,GARD:0021567,GARD:0004299,Rare bone disease +GARD:0019204,GARD:0022513,GARD:0021567,GARD:0022029,Rare developmental defect during embryogenesis +GARD:0019204,GARD:0022531,GARD:0021567,GARD:0003818,Rare genetic disease +GARD:0019204,GARD:0022531,GARD:0021567,GARD:0017610,Rare genetic disease +GARD:0019204,GARD:0022511,GARD:0021567,GARD:0011893,Rare bone disease +GARD:0019204,GARD:0022511,GARD:0021567,GARD:0021524,Rare bone disease +GARD:0019204,GARD:0022513,GARD:0021567,GARD:0003818,Rare developmental defect during embryogenesis +GARD:0019204,GARD:0022511,GARD:0021567,GARD:0010061,Rare bone disease +GARD:0019204,GARD:0022531,GARD:0021567,GARD:0011008,Rare genetic disease +GARD:0019204,GARD:0022531,GARD:0021567,GARD:0009168,Rare genetic disease +GARD:0019204,GARD:0022513,GARD:0021567,GARD:0009168,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0016820,Rare genetic disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0004142,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0006542,Rare genetic disease +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0004142,Rare genetic disease +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0019051,Rare genetic disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0010899,Rare bone disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0010899,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0001128,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0018853,Rare bone disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0019051,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0019682,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0003560,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0007523,Rare genetic disease +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0016741,Rare genetic disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0003560,Rare bone disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0016820,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0004838,Rare genetic disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0008698,Rare bone disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0006036,Rare bone disease +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0022384,Rare genetic disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0001128,Rare bone disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0005421,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0019682,Rare bone disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0016902,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0003560,Rare genetic disease +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0005421,Rare genetic disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0006445,Rare bone disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0019051,Rare bone disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0021491,Rare bone disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0002019,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0007866,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0002019,Rare bone disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0004142,Rare bone disease +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0002019,Rare genetic disease +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0007035,Rare genetic disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0006958,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0002202,Rare genetic disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0006445,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0007035,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0006036,Rare genetic disease +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0008698,Rare genetic disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0009921,Rare bone disease +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0019682,Rare genetic disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0004838,Rare bone disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0007035,Rare bone disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0016820,Rare bone disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0007523,Rare bone disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0007866,Rare bone disease +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0006958,Rare genetic disease +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0007251,Rare genetic disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0004838,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0000109,Rare bone disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0008698,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0018853,Rare genetic disease +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0001128,Rare genetic disease +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0006445,Rare genetic disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0018853,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0016741,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0016902,Rare genetic disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0005421,Rare bone disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0006542,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0002202,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0007866,Rare genetic disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0006036,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0010899,Rare genetic disease +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0009921,Rare genetic disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0022384,Rare bone disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0006958,Rare bone disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0002202,Rare bone disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0016902,Rare bone disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0016741,Rare bone disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0009921,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0000109,Rare genetic disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0006542,Rare bone disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0022384,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0000109,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022531,GARD:0021567,GARD:0021491,Rare genetic disease +GARD:0019205,GARD:0022511,GARD:0021567,GARD:0007251,Rare bone disease +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0021491,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0007251,Rare developmental defect during embryogenesis +GARD:0019205,GARD:0022513,GARD:0021567,GARD:0007523,Rare developmental defect during embryogenesis +GARD:0019206,GARD:0022531,GARD:0021567,GARD:0001727,Rare genetic disease +GARD:0019206,GARD:0022511,GARD:0021567,GARD:0001727,Rare bone disease +GARD:0019206,GARD:0022511,GARD:0021567,GARD:0006118,Rare bone disease +GARD:0019206,GARD:0022513,GARD:0021567,GARD:0006118,Rare developmental defect during embryogenesis +GARD:0019206,GARD:0022511,GARD:0021567,GARD:0000331,Rare bone disease +GARD:0019206,GARD:0022531,GARD:0021567,GARD:0009506,Rare genetic disease +GARD:0019206,GARD:0022511,GARD:0021567,GARD:0017207,Rare bone disease +GARD:0019206,GARD:0022513,GARD:0021567,GARD:0009506,Rare developmental defect during embryogenesis +GARD:0019206,GARD:0022531,GARD:0021567,GARD:0016662,Rare genetic disease +GARD:0019206,GARD:0022513,GARD:0021567,GARD:0000331,Rare developmental defect during embryogenesis +GARD:0019206,GARD:0022511,GARD:0021567,GARD:0009506,Rare bone disease +GARD:0019206,GARD:0022513,GARD:0021567,GARD:0001727,Rare developmental defect during embryogenesis +GARD:0019206,GARD:0022513,GARD:0021567,GARD:0016662,Rare developmental defect during embryogenesis +GARD:0019206,GARD:0022531,GARD:0021567,GARD:0006118,Rare genetic disease +GARD:0019206,GARD:0022513,GARD:0021567,GARD:0017207,Rare developmental defect during embryogenesis +GARD:0019206,GARD:0022511,GARD:0021567,GARD:0016662,Rare bone disease +GARD:0019206,GARD:0022531,GARD:0021567,GARD:0017207,Rare genetic disease +GARD:0019206,GARD:0022531,GARD:0021567,GARD:0000331,Rare genetic disease +GARD:0019207,GARD:0022511,GARD:0021571,GARD:0002392,Rare bone disease +GARD:0019207,GARD:0022531,GARD:0021725,GARD:0017422,Rare genetic disease +GARD:0019207,GARD:0022511,GARD:0021571,GARD:0004136,Rare bone disease +GARD:0019207,GARD:0022531,GARD:0021725,GARD:0002392,Rare genetic disease +GARD:0019207,GARD:0022511,GARD:0021571,GARD:0005125,Rare bone disease +GARD:0019207,GARD:0022511,GARD:0021571,GARD:0004046,Rare bone disease +GARD:0019207,GARD:0022513,GARD:0021571,GARD:0005125,Rare developmental defect during embryogenesis +GARD:0019207,GARD:0022531,GARD:0021725,GARD:0017814,Rare genetic disease +GARD:0019207,GARD:0022511,GARD:0021571,GARD:0019979,Rare bone disease +GARD:0019207,GARD:0022513,GARD:0021571,GARD:0008585,Rare developmental defect during embryogenesis +GARD:0019207,GARD:0022531,GARD:0021725,GARD:0004136,Rare genetic disease +GARD:0019207,GARD:0022531,GARD:0021725,GARD:0005125,Rare genetic disease +GARD:0019207,GARD:0022513,GARD:0021571,GARD:0005092,Rare developmental defect during embryogenesis +GARD:0019207,GARD:0022511,GARD:0021571,GARD:0017422,Rare bone disease +GARD:0019207,GARD:0022513,GARD:0021571,GARD:0002392,Rare developmental defect during embryogenesis +GARD:0019207,GARD:0022531,GARD:0021725,GARD:0019979,Rare genetic disease +GARD:0019207,GARD:0022511,GARD:0021571,GARD:0008585,Rare bone disease +GARD:0019207,GARD:0022513,GARD:0021571,GARD:0003653,Rare developmental defect during embryogenesis +GARD:0019207,GARD:0022513,GARD:0021571,GARD:0017571,Rare developmental defect during embryogenesis +GARD:0019207,GARD:0022511,GARD:0021571,GARD:0010692,Rare bone disease +GARD:0019207,GARD:0022531,GARD:0021725,GARD:0010692,Rare genetic disease +GARD:0019207,GARD:0022531,GARD:0021725,GARD:0004046,Rare genetic disease +GARD:0019207,GARD:0022511,GARD:0021571,GARD:0005092,Rare bone disease +GARD:0019207,GARD:0022513,GARD:0021571,GARD:0017814,Rare developmental defect during embryogenesis +GARD:0019207,GARD:0022531,GARD:0021725,GARD:0005092,Rare genetic disease +GARD:0019207,GARD:0022531,GARD:0021725,GARD:0008585,Rare genetic disease +GARD:0019207,GARD:0022511,GARD:0021571,GARD:0003653,Rare bone disease +GARD:0019207,GARD:0022513,GARD:0021571,GARD:0004046,Rare developmental defect during embryogenesis +GARD:0019207,GARD:0022513,GARD:0021571,GARD:0010692,Rare developmental defect during embryogenesis +GARD:0019207,GARD:0022511,GARD:0021571,GARD:0017814,Rare bone disease +GARD:0019207,GARD:0022531,GARD:0021725,GARD:0017571,Rare genetic disease +GARD:0019207,GARD:0022513,GARD:0021571,GARD:0004136,Rare developmental defect during embryogenesis +GARD:0019207,GARD:0022513,GARD:0021571,GARD:0017422,Rare developmental defect during embryogenesis +GARD:0019207,GARD:0022531,GARD:0021725,GARD:0003653,Rare genetic disease +GARD:0019207,GARD:0022513,GARD:0021571,GARD:0019979,Rare developmental defect during embryogenesis +GARD:0019207,GARD:0022511,GARD:0021571,GARD:0017571,Rare bone disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0000842,Rare bone disease +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0019052,Rare genetic disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0010280,Rare bone disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0006798,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0017778,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0002989,Rare genetic disease +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0005569,Rare genetic disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0002989,Rare bone disease +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0017944,Rare genetic disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0018759,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0017778,Rare bone disease +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0003462,Rare genetic disease +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0006026,Rare genetic disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0017944,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0019052,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0001210,Rare genetic disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0012806,Rare bone disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0017785,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0010012,Rare genetic disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0001210,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0010280,Rare genetic disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0005569,Rare bone disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0000842,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0006026,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0019052,Rare bone disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0017944,Rare bone disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0003462,Rare bone disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0012806,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0004269,Rare bone disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0018759,Rare bone disease +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0017785,Rare genetic disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0018842,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0001626,Rare bone disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0010226,Rare bone disease +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0012806,Rare genetic disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0006026,Rare bone disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0004269,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0010012,Rare bone disease +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0017495,Rare genetic disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0018842,Rare bone disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0016674,Rare bone disease +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0001626,Rare genetic disease +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0004269,Rare genetic disease +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0000842,Rare genetic disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0001626,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0018759,Rare genetic disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0010280,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0018842,Rare genetic disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0006798,Rare bone disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0010226,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0005569,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0010012,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0017785,Rare bone disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0016674,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0010226,Rare genetic disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0017495,Rare bone disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0017495,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0016674,Rare genetic disease +GARD:0019208,GARD:0022511,GARD:0021571,GARD:0001210,Rare bone disease +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0006798,Rare genetic disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0002989,Rare developmental defect during embryogenesis +GARD:0019208,GARD:0022531,GARD:0021725,GARD:0017778,Rare genetic disease +GARD:0019208,GARD:0022513,GARD:0021571,GARD:0003462,Rare developmental defect during embryogenesis +GARD:0019209,GARD:0022511,GARD:0021571,GARD:0007160,Rare bone disease +GARD:0019209,GARD:0022513,GARD:0021571,GARD:0022399,Rare developmental defect during embryogenesis +GARD:0019209,GARD:0022511,GARD:0021571,GARD:0022399,Rare bone disease +GARD:0019209,GARD:0022511,GARD:0021571,GARD:0003030,Rare bone disease +GARD:0019209,GARD:0022513,GARD:0021571,GARD:0002033,Rare developmental defect during embryogenesis +GARD:0019209,GARD:0022511,GARD:0021571,GARD:0008709,Rare bone disease +GARD:0019209,GARD:0022513,GARD:0021571,GARD:0003030,Rare developmental defect during embryogenesis +GARD:0019209,GARD:0022511,GARD:0021571,GARD:0002033,Rare bone disease +GARD:0019209,GARD:0022513,GARD:0021571,GARD:0008709,Rare developmental defect during embryogenesis +GARD:0019209,GARD:0022531,GARD:0021725,GARD:0003030,Rare genetic disease +GARD:0019209,GARD:0022513,GARD:0021571,GARD:0017337,Rare developmental defect during embryogenesis +GARD:0019209,GARD:0022513,GARD:0021571,GARD:0007160,Rare developmental defect during embryogenesis +GARD:0019209,GARD:0022531,GARD:0021725,GARD:0002033,Rare genetic disease +GARD:0019209,GARD:0022531,GARD:0021725,GARD:0008709,Rare genetic disease +GARD:0019209,GARD:0022531,GARD:0021725,GARD:0007160,Rare genetic disease +GARD:0019209,GARD:0022511,GARD:0021571,GARD:0017337,Rare bone disease +GARD:0019209,GARD:0022531,GARD:0021725,GARD:0022399,Rare genetic disease +GARD:0019209,GARD:0022531,GARD:0021725,GARD:0017337,Rare genetic disease +GARD:0019210,GARD:0022511,GARD:0021572,GARD:0022024,Rare bone disease +GARD:0019210,GARD:0022513,GARD:0021572,GARD:0022024,Rare developmental defect during embryogenesis +GARD:0019210,GARD:0022513,GARD:0019872,GARD:0021180,Rare developmental defect during embryogenesis +GARD:0019210,GARD:0022513,GARD:0019872,GARD:0022024,Rare developmental defect during embryogenesis +GARD:0019210,GARD:0022531,GARD:0021726,GARD:0022024,Rare genetic disease +GARD:0019210,GARD:0022511,GARD:0021572,GARD:0022025,Rare bone disease +GARD:0019210,GARD:0022513,GARD:0019872,GARD:0022025,Rare developmental defect during embryogenesis +GARD:0019210,GARD:0022531,GARD:0019872,GARD:0022024,Rare genetic disease +GARD:0019210,GARD:0022513,GARD:0021572,GARD:0022025,Rare developmental defect during embryogenesis +GARD:0019210,GARD:0022531,GARD:0019872,GARD:0022025,Rare genetic disease +GARD:0019210,GARD:0022531,GARD:0021726,GARD:0022025,Rare genetic disease +GARD:0019210,GARD:0022513,GARD:0021572,GARD:0021180,Rare developmental defect during embryogenesis +GARD:0019210,GARD:0022531,GARD:0019872,GARD:0021180,Rare genetic disease +GARD:0019210,GARD:0022531,GARD:0021726,GARD:0021180,Rare genetic disease +GARD:0019210,GARD:0022511,GARD:0021572,GARD:0021180,Rare bone disease +GARD:0019211,GARD:0022513,GARD:0021572,GARD:0019100,Rare developmental defect during embryogenesis +GARD:0019211,GARD:0022511,GARD:0021572,GARD:0021199,Rare bone disease +GARD:0019211,GARD:0022531,GARD:0019872,GARD:0004410,Rare genetic disease +GARD:0019211,GARD:0022511,GARD:0021572,GARD:0019100,Rare bone disease +GARD:0019211,GARD:0022511,GARD:0021572,GARD:0004410,Rare bone disease +GARD:0019211,GARD:0022531,GARD:0019872,GARD:0019100,Rare genetic disease +GARD:0019211,GARD:0022531,GARD:0021726,GARD:0019100,Rare genetic disease +GARD:0019211,GARD:0022513,GARD:0019872,GARD:0004410,Rare developmental defect during embryogenesis +GARD:0019211,GARD:0022513,GARD:0019872,GARD:0019100,Rare developmental defect during embryogenesis +GARD:0019211,GARD:0022531,GARD:0019872,GARD:0021199,Rare genetic disease +GARD:0019211,GARD:0022513,GARD:0021572,GARD:0021199,Rare developmental defect during embryogenesis +GARD:0019211,GARD:0022513,GARD:0021572,GARD:0004410,Rare developmental defect during embryogenesis +GARD:0019211,GARD:0022531,GARD:0021726,GARD:0021199,Rare genetic disease +GARD:0019211,GARD:0022531,GARD:0021726,GARD:0004410,Rare genetic disease +GARD:0019211,GARD:0022513,GARD:0019872,GARD:0021199,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022513,GARD:0021572,GARD:0000966,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022531,GARD:0021726,GARD:0008182,Rare genetic disease +GARD:0019212,GARD:0022513,GARD:0021572,GARD:0010054,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022531,GARD:0021728,GARD:0009225,Rare genetic disease +GARD:0019212,GARD:0022531,GARD:0021726,GARD:0000088,Rare genetic disease +GARD:0019212,GARD:0022513,GARD:0019871,GARD:0000966,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022511,GARD:0021572,GARD:0005077,Rare bone disease +GARD:0019212,GARD:0022531,GARD:0021728,GARD:0010054,Rare genetic disease +GARD:0019212,GARD:0022513,GARD:0019871,GARD:0000813,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022531,GARD:0021726,GARD:0000394,Rare genetic disease +GARD:0019212,GARD:0022531,GARD:0021728,GARD:0016687,Rare genetic disease +GARD:0019212,GARD:0022513,GARD:0021572,GARD:0004129,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022531,GARD:0021726,GARD:0000039,Rare genetic disease +GARD:0019212,GARD:0022511,GARD:0021572,GARD:0004129,Rare bone disease +GARD:0019212,GARD:0022513,GARD:0019871,GARD:0005077,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022513,GARD:0019871,GARD:0000394,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022531,GARD:0021726,GARD:0005077,Rare genetic disease +GARD:0019212,GARD:0022511,GARD:0021572,GARD:0008182,Rare bone disease +GARD:0019212,GARD:0022513,GARD:0019871,GARD:0003836,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022531,GARD:0021728,GARD:0009991,Rare genetic disease +GARD:0019212,GARD:0022513,GARD:0019871,GARD:0009991,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022511,GARD:0021572,GARD:0000813,Rare bone disease +GARD:0019212,GARD:0022513,GARD:0021572,GARD:0003836,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022513,GARD:0019871,GARD:0004129,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022513,GARD:0019871,GARD:0001810,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022513,GARD:0019871,GARD:0000088,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022513,GARD:0021572,GARD:0008182,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022513,GARD:0019871,GARD:0010054,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022531,GARD:0021726,GARD:0001810,Rare genetic disease +GARD:0019212,GARD:0022513,GARD:0019871,GARD:0016687,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022531,GARD:0021728,GARD:0003836,Rare genetic disease +GARD:0019212,GARD:0022531,GARD:0021728,GARD:0000813,Rare genetic disease +GARD:0019212,GARD:0022531,GARD:0021726,GARD:0004129,Rare genetic disease +GARD:0019212,GARD:0022513,GARD:0021572,GARD:0005077,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022531,GARD:0021726,GARD:0000813,Rare genetic disease +GARD:0019212,GARD:0022513,GARD:0021572,GARD:0009225,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022531,GARD:0021726,GARD:0003836,Rare genetic disease +GARD:0019212,GARD:0022511,GARD:0021572,GARD:0003836,Rare bone disease +GARD:0019212,GARD:0022513,GARD:0021572,GARD:0000813,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022531,GARD:0021728,GARD:0000966,Rare genetic disease +GARD:0019212,GARD:0022511,GARD:0021572,GARD:0000039,Rare bone disease +GARD:0019212,GARD:0022511,GARD:0021572,GARD:0009225,Rare bone disease +GARD:0019212,GARD:0022531,GARD:0021728,GARD:0000039,Rare genetic disease +GARD:0019212,GARD:0022531,GARD:0021728,GARD:0000394,Rare genetic disease +GARD:0019212,GARD:0022513,GARD:0019871,GARD:0009225,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022513,GARD:0021572,GARD:0009991,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022511,GARD:0021572,GARD:0009991,Rare bone disease +GARD:0019212,GARD:0022513,GARD:0021572,GARD:0000039,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022511,GARD:0021572,GARD:0010054,Rare bone disease +GARD:0019212,GARD:0022513,GARD:0021572,GARD:0016687,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022531,GARD:0021728,GARD:0008182,Rare genetic disease +GARD:0019212,GARD:0022513,GARD:0021572,GARD:0000088,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022531,GARD:0021728,GARD:0004129,Rare genetic disease +GARD:0019212,GARD:0022511,GARD:0021572,GARD:0000394,Rare bone disease +GARD:0019212,GARD:0022531,GARD:0021726,GARD:0009225,Rare genetic disease +GARD:0019212,GARD:0022531,GARD:0021728,GARD:0005077,Rare genetic disease +GARD:0019212,GARD:0022513,GARD:0021572,GARD:0000394,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022511,GARD:0021572,GARD:0000966,Rare bone disease +GARD:0019212,GARD:0022531,GARD:0021726,GARD:0016687,Rare genetic disease +GARD:0019212,GARD:0022511,GARD:0021572,GARD:0000088,Rare bone disease +GARD:0019212,GARD:0022513,GARD:0019871,GARD:0008182,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022513,GARD:0019871,GARD:0000039,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022513,GARD:0021572,GARD:0001810,Rare developmental defect during embryogenesis +GARD:0019212,GARD:0022531,GARD:0021726,GARD:0009991,Rare genetic disease +GARD:0019212,GARD:0022511,GARD:0021572,GARD:0016687,Rare bone disease +GARD:0019212,GARD:0022531,GARD:0021728,GARD:0000088,Rare genetic disease +GARD:0019212,GARD:0022511,GARD:0021572,GARD:0001810,Rare bone disease +GARD:0019212,GARD:0022531,GARD:0021728,GARD:0001810,Rare genetic disease +GARD:0019212,GARD:0022531,GARD:0021726,GARD:0000966,Rare genetic disease +GARD:0019212,GARD:0022531,GARD:0021726,GARD:0010054,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0007251,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0006958,Rare genetic disease +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0010091,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0007251,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0018646,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0017676,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0003343,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0007475,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0010091,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0003947,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0019214,Rare genetic disease +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0003936,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0017674,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0003936,Rare genetic disease +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0017676,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0007649,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0003122,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0005887,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0016580,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0021232,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0006958,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0002630,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0019214,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0007706,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0013811,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0019881,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0013789,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0013811,Rare genetic disease +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0018646,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0006985,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0007878,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0017044,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0021232,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0022209,Rare genetic disease +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0007475,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0022209,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0003343,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0002630,Rare genetic disease +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0013789,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0006985,Rare genetic disease +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0017805,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0017352,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0017352,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0003122,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0017805,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0017044,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0007878,Rare genetic disease +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0016630,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0005887,Rare genetic disease +GARD:0019213,GARD:0022513,GARD:0019903,GARD:0003947,Rare developmental defect during embryogenesis +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0016630,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0007649,Rare genetic disease +GARD:0019213,GARD:0022531,GARD:0020300,GARD:0017674,Rare genetic disease +GARD:0019214,GARD:0022513,GARD:0019213,GARD:0006093,Rare developmental defect during embryogenesis +GARD:0019214,GARD:0022513,GARD:0019213,GARD:0017423,Rare developmental defect during embryogenesis +GARD:0019214,GARD:0022531,GARD:0019213,GARD:0019306,Rare genetic disease +GARD:0019214,GARD:0022531,GARD:0019213,GARD:0008421,Rare genetic disease +GARD:0019214,GARD:0022513,GARD:0019213,GARD:0019306,Rare developmental defect during embryogenesis +GARD:0019214,GARD:0022531,GARD:0019213,GARD:0006093,Rare genetic disease +GARD:0019214,GARD:0022531,GARD:0019213,GARD:0017423,Rare genetic disease +GARD:0019214,GARD:0022513,GARD:0019213,GARD:0008421,Rare developmental defect during embryogenesis +GARD:0019215,GARD:0022511,GARD:0021567,GARD:0003124,Rare bone disease +GARD:0019215,GARD:0022513,GARD:0021567,GARD:0003399,Rare developmental defect during embryogenesis +GARD:0019215,GARD:0022531,GARD:0021567,GARD:0004610,Rare genetic disease +GARD:0019215,GARD:0022531,GARD:0021567,GARD:0000922,Rare genetic disease +GARD:0019215,GARD:0022513,GARD:0021567,GARD:0004610,Rare developmental defect during embryogenesis +GARD:0019215,GARD:0022531,GARD:0021567,GARD:0003399,Rare genetic disease +GARD:0019215,GARD:0022513,GARD:0021567,GARD:0003124,Rare developmental defect during embryogenesis +GARD:0019215,GARD:0022513,GARD:0021567,GARD:0000922,Rare developmental defect during embryogenesis +GARD:0019215,GARD:0022511,GARD:0021567,GARD:0000922,Rare bone disease +GARD:0019215,GARD:0022511,GARD:0021567,GARD:0003399,Rare bone disease +GARD:0019215,GARD:0022511,GARD:0021567,GARD:0004610,Rare bone disease +GARD:0019215,GARD:0022531,GARD:0021567,GARD:0003124,Rare genetic disease +GARD:0019216,GARD:0022512,GARD:0022512,GARD:0019217,Rare renal disease +GARD:0019216,GARD:0022512,GARD:0022512,GARD:0019218,Rare renal disease +GARD:0019216,GARD:0022513,GARD:0022513,GARD:0019217,Rare developmental defect during embryogenesis +GARD:0019216,GARD:0022513,GARD:0022513,GARD:0019218,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0018700,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0019174,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0021814,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0009228,Rare renal disease +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0000232,Rare renal disease +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0009228,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0017323,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0019172,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0000379,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0000379,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0019172,Rare renal disease +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0020638,Rare renal disease +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0004066,Rare renal disease +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0021814,Rare renal disease +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0001975,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0020638,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0021804,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0018700,Rare renal disease +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0019173,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0021804,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0017323,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0004066,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0019172,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0018748,Rare renal disease +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0019174,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0001975,Rare renal disease +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0018748,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0019174,Rare renal disease +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0009228,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0021804,Rare renal disease +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0020638,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0019173,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0000379,Rare renal disease +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0018700,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0002207,Rare renal disease +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0019173,Rare renal disease +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0002207,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0001975,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0018748,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0000232,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0021814,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0004066,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022513,GARD:0019216,GARD:0002207,Rare developmental defect during embryogenesis +GARD:0019217,GARD:0022536,GARD:0022061,GARD:0000232,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019217,GARD:0022512,GARD:0019216,GARD:0017323,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0006465,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0004665,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0001646,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0000236,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0006465,Rare genetic disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0002279,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0017921,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0000320,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0000104,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0000026,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0005394,Rare genetic disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0010595,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0005443,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0005175,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0002557,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0001994,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0007649,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0000514,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0007593,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0004641,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0002342,Rare genetic disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0002230,Rare genetic disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0003436,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0005202,Rare genetic disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0022397,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0002342,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0000026,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0000508,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0000804,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0018654,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0000213,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0002727,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0002557,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0002911,Rare genetic disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0017743,Rare genetic disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0003436,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0017961,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0000026,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0022397,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0007593,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0017921,Rare renal disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0007649,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0000794,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0004641,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0005394,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0018654,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0004121,Rare genetic disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0002230,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0000690,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0002279,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0000104,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0004665,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0001301,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0006007,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0002076,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0004641,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0006007,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0004106,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0006007,Rare genetic disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0017922,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0000213,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0001646,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0008509,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0000804,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0000690,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0001910,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0003943,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0010299,Rare genetic disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0002279,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0000508,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0010147,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0022397,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0000213,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0002230,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0002911,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0008509,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0004121,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0000117,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0010955,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0007593,Rare genetic disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0010147,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0004655,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0000117,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0000794,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0000029,Rare genetic disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0010221,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0010595,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0002557,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0007784,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0011971,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0007341,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0000794,Rare genetic disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0002279,Rare genetic disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0017961,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0001994,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0004665,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0006321,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0017922,Rare genetic disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0010147,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0000236,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0000320,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0005528,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0022397,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0006321,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0002727,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0005445,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0004106,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0010221,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0007341,Rare genetic disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0012814,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0000508,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0000104,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0007831,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0000320,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0007831,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0003964,Rare genetic disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0006321,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0003943,Rare genetic disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0002727,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0000514,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0006321,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0002230,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0017922,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0007305,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0010595,Rare genetic disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0007649,Rare renal disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0011971,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0001910,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0000804,Rare renal disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0017921,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0017743,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0002076,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0005683,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0017921,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0003436,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0005394,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0007649,Rare genetic disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0004655,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0003442,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0012814,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0000117,Rare genetic disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0003343,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0017922,Rare renal disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0003943,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0000026,Rare renal disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0006007,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0000514,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0011971,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0005443,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0004641,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0002911,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0006465,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0007305,Rare genetic disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0005528,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0005394,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0000794,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0010955,Rare genetic disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0000213,Rare renal disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0017961,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0003343,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0001994,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0022371,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0000514,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0010595,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0005202,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0004665,Rare genetic disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0005683,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0007593,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0005202,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0007341,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0007784,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0003442,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0003964,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0003343,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0002911,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0003436,Rare genetic disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0003943,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0003818,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0005443,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0001301,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0005445,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0002342,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0005528,Rare genetic disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0007831,Rare genetic disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0000029,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0001646,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0010299,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0010299,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0010955,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0000236,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0000029,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0012814,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0000508,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0000804,Rare genetic disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0022371,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0000236,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0001910,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0002076,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0017743,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0003818,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0000104,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0002342,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0010955,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0004121,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0003964,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0003964,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0006465,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0010221,Rare genetic disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0002727,Rare genetic disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0003343,Rare genetic disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0007341,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0000690,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0018654,Rare renal disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0007305,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0000029,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0005528,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0005202,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0010299,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0000117,Rare renal disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0007784,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0001646,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0007784,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0005683,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0018654,Rare genetic disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0005445,Rare genetic disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0008509,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0001301,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0003818,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0003818,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0017743,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0004106,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0005175,Rare renal disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0005443,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0005175,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0012814,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0001994,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0022371,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0004121,Rare renal disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0008509,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0007831,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0004655,Rare renal disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0010221,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0010147,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0003442,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0017961,Rare renal disease +GARD:0019218,GARD:0022512,GARD:0019216,GARD:0003442,Rare renal disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0005175,Rare genetic disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0000690,Rare genetic disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0001301,Rare genetic disease +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0007305,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022513,GARD:0019216,GARD:0002076,Rare developmental defect during embryogenesis +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0022371,Rare genetic disease +GARD:0019218,GARD:0022536,GARD:0022061,GARD:0005445,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0000320,Rare genetic disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0005683,Rare genetic disease +GARD:0019218,GARD:0022531,GARD:0020293,GARD:0004106,Rare genetic disease +GARD:0019219,GARD:0022536,GARD:0022292,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019219,GARD:0022536,GARD:0020927,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019219,GARD:0022525,GARD:0020256,,Rare systemic or rheumatologic disease +GARD:0019219,GARD:0022524,GARD:0020090,,Rare neurologic disease +GARD:0019219,GARD:0022512,GARD:0019227,,Rare renal disease +GARD:0019219,GARD:0022517,GARD:0020927,,Rare respiratory disease +GARD:0019219,GARD:0022512,GARD:0022292,,Rare renal disease +GARD:0019219,GARD:0021079,GARD:0021082,,Rare systemic or rheumatological disease of childhood +GARD:0019220,GARD:0021079,GARD:0006386,,Rare systemic or rheumatological disease of childhood +GARD:0019220,GARD:0022525,GARD:0006386,,Rare systemic or rheumatologic disease +GARD:0019220,GARD:0022536,GARD:0006386,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019220,GARD:0022527,GARD:0006386,,Rare circulatory system disease +GARD:0019220,GARD:0022524,GARD:0006386,,Rare neurologic disease +GARD:0019220,GARD:0022512,GARD:0006386,,Rare renal disease +GARD:0019220,GARD:0022517,GARD:0006386,,Rare respiratory disease +GARD:0019221,GARD:0022527,GARD:0006386,,Rare circulatory system disease +GARD:0019221,GARD:0022536,GARD:0006386,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019221,GARD:0022524,GARD:0006386,,Rare neurologic disease +GARD:0019221,GARD:0022517,GARD:0006386,,Rare respiratory disease +GARD:0019221,GARD:0022512,GARD:0006386,,Rare renal disease +GARD:0019221,GARD:0022525,GARD:0006386,,Rare systemic or rheumatologic disease +GARD:0019221,GARD:0021079,GARD:0006386,,Rare systemic or rheumatological disease of childhood +GARD:0019222,GARD:0022522,GARD:0019073,,Rare hematologic disease +GARD:0019222,GARD:0022536,GARD:0019073,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019222,GARD:0022535,GARD:0019073,,Rare neoplastic disease +GARD:0019222,GARD:0022512,GARD:0019073,,Rare renal disease +GARD:0019223,GARD:0022536,GARD:0019073,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019223,GARD:0022522,GARD:0019073,,Rare hematologic disease +GARD:0019223,GARD:0022512,GARD:0019073,,Rare renal disease +GARD:0019223,GARD:0022535,GARD:0019073,,Rare neoplastic disease +GARD:0019224,GARD:0022512,GARD:0008282,,Rare renal disease +GARD:0019224,GARD:0022525,GARD:0008282,,Rare systemic or rheumatologic disease +GARD:0019224,GARD:0022531,GARD:0008282,,Rare genetic disease +GARD:0019224,GARD:0022536,GARD:0008282,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019225,GARD:0022512,GARD:0008282,,Rare renal disease +GARD:0019225,GARD:0022525,GARD:0008282,,Rare systemic or rheumatologic disease +GARD:0019225,GARD:0022531,GARD:0008282,,Rare genetic disease +GARD:0019225,GARD:0022536,GARD:0008282,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019226,GARD:0022536,GARD:0008282,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019226,GARD:0022512,GARD:0008282,,Rare renal disease +GARD:0019226,GARD:0022531,GARD:0008282,,Rare genetic disease +GARD:0019226,GARD:0022525,GARD:0008282,,Rare systemic or rheumatologic disease +GARD:0019227,GARD:0022512,GARD:0022512,GARD:0022233,Rare renal disease +GARD:0019227,GARD:0022512,GARD:0022512,GARD:0016659,Rare renal disease +GARD:0019227,GARD:0022512,GARD:0022512,GARD:0018695,Rare renal disease +GARD:0019227,GARD:0022512,GARD:0022512,GARD:0020651,Rare renal disease +GARD:0019227,GARD:0022512,GARD:0022512,GARD:0019219,Rare renal disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0001301,Rare genetic disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0001301,Rare renal disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0000206,Rare genetic disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0017757,Rare genetic disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0016699,Rare genetic disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0000359,Rare genetic disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0007855,Rare renal disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0008378,Rare genetic disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0000322,Rare renal disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0009481,Rare genetic disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0000322,Rare genetic disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0003436,Rare renal disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0010413,Rare genetic disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0011003,Rare genetic disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0009455,Rare renal disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0009481,Rare renal disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0016699,Rare renal disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0009681,Rare genetic disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0010801,Rare renal disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0005177,Rare genetic disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0009455,Rare genetic disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0005177,Rare renal disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0016730,Rare renal disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0008378,Rare renal disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0017356,Rare renal disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0000206,Rare renal disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0010413,Rare renal disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0000359,Rare renal disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0007855,Rare genetic disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0017757,Rare renal disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0010169,Rare renal disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0009681,Rare renal disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0007830,Rare genetic disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0003436,Rare genetic disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0006866,Rare renal disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0008600,Rare genetic disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0018777,Rare renal disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0017356,Rare genetic disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0010169,Rare genetic disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0018777,Rare genetic disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0016730,Rare genetic disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0011003,Rare renal disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0008600,Rare renal disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0006866,Rare genetic disease +GARD:0019228,GARD:0022531,GARD:0019400,GARD:0010801,Rare genetic disease +GARD:0019228,GARD:0022512,GARD:0022512,GARD:0007830,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0021442,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0016530,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0021611,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0016539,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0006569,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0007548,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0022486,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0006400,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0016523,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0009755,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0003586,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0005784,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0009755,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0021611,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0012623,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0022486,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0002943,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0017685,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0004337,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0002424,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0006569,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0017374,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0000546,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0016628,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0007893,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0007548,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0002424,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0016530,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0002268,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0002658,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0006622,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0016523,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0004337,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0003586,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0007893,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0016539,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0010353,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0017685,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0007917,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0000646,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0006400,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0000646,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0007006,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0017196,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0021442,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0016628,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0017239,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0005784,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0017196,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0000546,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0002943,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0007006,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0006622,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0012623,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0007183,Rare genetic disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0010353,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0017239,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0007917,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0002268,Rare renal disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0017374,Rare renal disease +GARD:0019229,GARD:0022531,GARD:0019400,GARD:0002658,Rare genetic disease +GARD:0019229,GARD:0022512,GARD:0022512,GARD:0007183,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0016587,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0010306,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0010758,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0021254,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0009118,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0022486,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0017564,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0021442,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0005893,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0017186,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0003350,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0000259,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0020334,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0017943,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0017967,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0022485,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0018920,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0009652,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0010514,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0022238,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0003295,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0022266,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0013072,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0008547,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0006735,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0019154,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0017569,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0009496,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0020634,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0022484,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0005787,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0003049,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0001614,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0007178,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0021861,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0006237,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0007552,Rare renal disease +GARD:0019230,GARD:0022512,GARD:0022512,GARD:0009252,Rare renal disease +GARD:0019231,GARD:0022531,GARD:0019400,GARD:0000871,Rare genetic disease +GARD:0019231,GARD:0022512,GARD:0022512,GARD:0000871,Rare renal disease +GARD:0019231,GARD:0022512,GARD:0022512,GARD:0006425,Rare renal disease +GARD:0019231,GARD:0022512,GARD:0022512,GARD:0008614,Rare renal disease +GARD:0019231,GARD:0022531,GARD:0019400,GARD:0006425,Rare genetic disease +GARD:0019231,GARD:0022531,GARD:0019400,GARD:0000621,Rare genetic disease +GARD:0019231,GARD:0022531,GARD:0019400,GARD:0008614,Rare genetic disease +GARD:0019232,GARD:0022512,GARD:0022512,GARD:0019381,Rare renal disease +GARD:0019232,GARD:0022527,GARD:0022527,GARD:0020010,Rare circulatory system disease +GARD:0019232,GARD:0022512,GARD:0022512,GARD:0020010,Rare renal disease +GARD:0019232,GARD:0022527,GARD:0022527,GARD:0019381,Rare circulatory system disease +GARD:0019233,GARD:0022535,GARD:0019401,GARD:0001493,Rare neoplastic disease +GARD:0019233,GARD:0022535,GARD:0019401,GARD:0002557,Rare neoplastic disease +GARD:0019233,GARD:0022512,GARD:0022512,GARD:0013215,Rare renal disease +GARD:0019233,GARD:0022535,GARD:0019401,GARD:0019376,Rare neoplastic disease +GARD:0019233,GARD:0022512,GARD:0022512,GARD:0002557,Rare renal disease +GARD:0019233,GARD:0022512,GARD:0022512,GARD:0021905,Rare renal disease +GARD:0019233,GARD:0022512,GARD:0022512,GARD:0007892,Rare renal disease +GARD:0019233,GARD:0022512,GARD:0022512,GARD:0021928,Rare renal disease +GARD:0019233,GARD:0022535,GARD:0019401,GARD:0013215,Rare neoplastic disease +GARD:0019233,GARD:0022535,GARD:0019401,GARD:0007892,Rare neoplastic disease +GARD:0019233,GARD:0022512,GARD:0022512,GARD:0019376,Rare renal disease +GARD:0019233,GARD:0022512,GARD:0022512,GARD:0001493,Rare renal disease +GARD:0019233,GARD:0022535,GARD:0019401,GARD:0021928,Rare neoplastic disease +GARD:0019233,GARD:0022535,GARD:0019401,GARD:0021905,Rare neoplastic disease +GARD:0019234,GARD:0022525,GARD:0020257,GARD:0021457,Rare systemic or rheumatologic disease +GARD:0019234,GARD:0022525,GARD:0020257,GARD:0021957,Rare systemic or rheumatologic disease +GARD:0019234,GARD:0022525,GARD:0020257,GARD:0021455,Rare systemic or rheumatologic disease +GARD:0019234,GARD:0022525,GARD:0020257,GARD:0021456,Rare systemic or rheumatologic disease +GARD:0019234,GARD:0022525,GARD:0020257,GARD:0019812,Rare systemic or rheumatologic disease +GARD:0019234,GARD:0022525,GARD:0020257,GARD:0021454,Rare systemic or rheumatologic disease +GARD:0019235,GARD:0022512,GARD:0002207,,Rare renal disease +GARD:0019235,GARD:0022531,GARD:0002207,,Rare genetic disease +GARD:0019235,GARD:0022532,GARD:0002207,,Rare urogenital disease +GARD:0019235,GARD:0022534,GARD:0002207,,Rare abdominal surgical disease +GARD:0019235,GARD:0022513,GARD:0002207,,Rare developmental defect during embryogenesis +GARD:0019235,GARD:0022536,GARD:0002207,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019236,GARD:0022518,GARD:0003188,,Rare surgical thoracic disease +GARD:0019236,GARD:0022534,GARD:0003188,,Rare abdominal surgical disease +GARD:0019236,GARD:0022528,GARD:0003188,,Rare otorhinolaryngologic disease +GARD:0019236,GARD:0022517,GARD:0003188,,Rare respiratory disease +GARD:0019236,GARD:0022513,GARD:0003188,,Rare developmental defect during embryogenesis +GARD:0019237,GARD:0022513,GARD:0003188,,Rare developmental defect during embryogenesis +GARD:0019237,GARD:0022534,GARD:0003188,,Rare abdominal surgical disease +GARD:0019237,GARD:0022517,GARD:0003188,,Rare respiratory disease +GARD:0019237,GARD:0022518,GARD:0003188,,Rare surgical thoracic disease +GARD:0019237,GARD:0022528,GARD:0003188,,Rare otorhinolaryngologic disease +GARD:0019238,GARD:0022513,GARD:0003188,,Rare developmental defect during embryogenesis +GARD:0019238,GARD:0022528,GARD:0003188,,Rare otorhinolaryngologic disease +GARD:0019238,GARD:0022518,GARD:0003188,,Rare surgical thoracic disease +GARD:0019238,GARD:0022534,GARD:0003188,,Rare abdominal surgical disease +GARD:0019238,GARD:0022517,GARD:0003188,,Rare respiratory disease +GARD:0019239,GARD:0022524,GARD:0009509,,Rare neurologic disease +GARD:0019239,GARD:0022531,GARD:0009509,,Rare genetic disease +GARD:0019239,GARD:0022513,GARD:0009509,,Rare developmental defect during embryogenesis +GARD:0019240,GARD:0022531,GARD:0009509,,Rare genetic disease +GARD:0019240,GARD:0022524,GARD:0009509,,Rare neurologic disease +GARD:0019240,GARD:0022513,GARD:0009509,,Rare developmental defect during embryogenesis +GARD:0019241,GARD:0022524,GARD:0009509,,Rare neurologic disease +GARD:0019241,GARD:0022513,GARD:0009509,,Rare developmental defect during embryogenesis +GARD:0019241,GARD:0022531,GARD:0009509,,Rare genetic disease +GARD:0019242,GARD:0022513,GARD:0009509,,Rare developmental defect during embryogenesis +GARD:0019242,GARD:0022531,GARD:0009509,,Rare genetic disease +GARD:0019242,GARD:0022524,GARD:0009509,,Rare neurologic disease +GARD:0019243,GARD:0022524,GARD:0018749,,Rare neurologic disease +GARD:0019243,GARD:0022531,GARD:0018749,,Rare genetic disease +GARD:0019244,GARD:0022511,GARD:0021183,GARD:0021220,Rare bone disease +GARD:0019244,GARD:0022513,GARD:0021183,GARD:0021220,Rare developmental defect during embryogenesis +GARD:0019244,GARD:0022531,GARD:0021183,GARD:0021219,Rare genetic disease +GARD:0019244,GARD:0022511,GARD:0021183,GARD:0021219,Rare bone disease +GARD:0019244,GARD:0022531,GARD:0021183,GARD:0021220,Rare genetic disease +GARD:0019244,GARD:0022513,GARD:0021183,GARD:0021219,Rare developmental defect during embryogenesis +GARD:0019245,GARD:0022520,GARD:0019522,,Rare ophthalmic disorder +GARD:0019245,GARD:0022513,GARD:0019522,,Rare developmental defect during embryogenesis +GARD:0019246,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0019247,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0019247,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0019247,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0019248,GARD:0022535,GARD:0022315,,Rare neoplastic disease +GARD:0019248,GARD:0022521,GARD:0022315,,Rare endocrine disease +GARD:0019249,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0019250,GARD:0022524,GARD:0019479,,Rare neurologic disease +GARD:0019251,GARD:0022524,GARD:0019413,,Rare neurologic disease +GARD:0019251,GARD:0022531,GARD:0020759,,Rare genetic disease +GARD:0019251,GARD:0022508,GARD:0020759,,Rare inborn errors of metabolism +GARD:0019251,GARD:0022531,GARD:0019413,,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0017276,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0000059,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0009963,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0009951,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0012367,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0022352,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0001188,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0009976,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0012365,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0012368,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0012372,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0017276,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0010469,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0012366,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0012367,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0022351,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0022352,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0017429,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0012366,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0012368,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0022351,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0012365,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0012371,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0004071,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0009611,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0001188,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0009963,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0009970,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0004071,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0017917,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0006801,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0004956,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0009999,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0012372,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0009867,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0017917,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0009950,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0010477,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0009976,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0009996,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0004956,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0009611,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0004072,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0009950,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0009996,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0012371,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0010477,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0009999,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0009951,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0004072,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0000059,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0009997,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0010469,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0010476,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0017429,Rare neurologic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0009970,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0009997,Rare genetic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0010480,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0010480,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0006801,Rare genetic disease +GARD:0019252,GARD:0022524,GARD:0004346,GARD:0010476,Rare neurologic disease +GARD:0019252,GARD:0022531,GARD:0004346,GARD:0009867,Rare genetic disease +GARD:0019253,GARD:0022524,GARD:0004346,GARD:0022353,Rare neurologic disease +GARD:0019253,GARD:0022524,GARD:0004346,GARD:0012369,Rare neurologic disease +GARD:0019253,GARD:0022531,GARD:0004346,GARD:0017810,Rare genetic disease +GARD:0019253,GARD:0022524,GARD:0004346,GARD:0017810,Rare neurologic disease +GARD:0019253,GARD:0022531,GARD:0004346,GARD:0004953,Rare genetic disease +GARD:0019253,GARD:0022531,GARD:0004346,GARD:0022353,Rare genetic disease +GARD:0019253,GARD:0022524,GARD:0004346,GARD:0010351,Rare neurologic disease +GARD:0019253,GARD:0022524,GARD:0004346,GARD:0009995,Rare neurologic disease +GARD:0019253,GARD:0022524,GARD:0004346,GARD:0009975,Rare neurologic disease +GARD:0019253,GARD:0022531,GARD:0004346,GARD:0012369,Rare genetic disease +GARD:0019253,GARD:0022531,GARD:0004346,GARD:0010351,Rare genetic disease +GARD:0019253,GARD:0022524,GARD:0004346,GARD:0017811,Rare neurologic disease +GARD:0019253,GARD:0022524,GARD:0004346,GARD:0010475,Rare neurologic disease +GARD:0019253,GARD:0022524,GARD:0004346,GARD:0004950,Rare neurologic disease +GARD:0019253,GARD:0022531,GARD:0004346,GARD:0004950,Rare genetic disease +GARD:0019253,GARD:0022531,GARD:0004346,GARD:0009975,Rare genetic disease +GARD:0019253,GARD:0022531,GARD:0004346,GARD:0010475,Rare genetic disease +GARD:0019253,GARD:0022531,GARD:0004346,GARD:0009995,Rare genetic disease +GARD:0019253,GARD:0022524,GARD:0004346,GARD:0004953,Rare neurologic disease +GARD:0019253,GARD:0022531,GARD:0004346,GARD:0017811,Rare genetic disease +GARD:0019254,GARD:0022524,GARD:0004346,GARD:0010474,Rare neurologic disease +GARD:0019254,GARD:0022524,GARD:0004346,GARD:0005643,Rare neurologic disease +GARD:0019254,GARD:0022531,GARD:0004346,GARD:0005643,Rare genetic disease +GARD:0019254,GARD:0022531,GARD:0004346,GARD:0010474,Rare genetic disease +GARD:0019255,GARD:0022508,GARD:0010353,GARD:0005732,Rare inborn errors of metabolism +GARD:0019255,GARD:0022531,GARD:0019790,GARD:0006619,Rare genetic disease +GARD:0019255,GARD:0022510,GARD:0010353,GARD:0007848,Rare skin disease +GARD:0019255,GARD:0022510,GARD:0010353,GARD:0016937,Rare skin disease +GARD:0019255,GARD:0022512,GARD:0010353,GARD:0005732,Rare renal disease +GARD:0019255,GARD:0022510,GARD:0010353,GARD:0005732,Rare skin disease +GARD:0019255,GARD:0022531,GARD:0020382,GARD:0007848,Rare genetic disease +GARD:0019255,GARD:0022531,GARD:0010353,GARD:0005732,Rare genetic disease +GARD:0019255,GARD:0022531,GARD:0019790,GARD:0005732,Rare genetic disease +GARD:0019255,GARD:0022506,GARD:0019790,GARD:0005732,Rare hepatic disease +GARD:0019255,GARD:0022508,GARD:0010353,GARD:0006619,Rare inborn errors of metabolism +GARD:0019255,GARD:0022512,GARD:0010353,GARD:0016937,Rare renal disease +GARD:0019255,GARD:0022531,GARD:0019790,GARD:0016937,Rare genetic disease +GARD:0019255,GARD:0022508,GARD:0010353,GARD:0016937,Rare inborn errors of metabolism +GARD:0019255,GARD:0022506,GARD:0019790,GARD:0006619,Rare hepatic disease +GARD:0019255,GARD:0022510,GARD:0010353,GARD:0006619,Rare skin disease +GARD:0019255,GARD:0022531,GARD:0019790,GARD:0007848,Rare genetic disease +GARD:0019255,GARD:0022531,GARD:0020382,GARD:0016937,Rare genetic disease +GARD:0019255,GARD:0022531,GARD:0010353,GARD:0016937,Rare genetic disease +GARD:0019255,GARD:0022531,GARD:0010353,GARD:0006619,Rare genetic disease +GARD:0019255,GARD:0022531,GARD:0010353,GARD:0007848,Rare genetic disease +GARD:0019255,GARD:0022524,GARD:0020382,GARD:0007848,Rare neurologic disease +GARD:0019255,GARD:0022506,GARD:0019790,GARD:0016937,Rare hepatic disease +GARD:0019255,GARD:0022524,GARD:0020382,GARD:0006619,Rare neurologic disease +GARD:0019255,GARD:0022506,GARD:0019790,GARD:0007848,Rare hepatic disease +GARD:0019255,GARD:0022524,GARD:0020382,GARD:0005732,Rare neurologic disease +GARD:0019255,GARD:0022531,GARD:0020382,GARD:0006619,Rare genetic disease +GARD:0019255,GARD:0022531,GARD:0020382,GARD:0005732,Rare genetic disease +GARD:0019255,GARD:0022524,GARD:0020382,GARD:0016937,Rare neurologic disease +GARD:0019255,GARD:0022512,GARD:0010353,GARD:0007848,Rare renal disease +GARD:0019255,GARD:0022508,GARD:0010353,GARD:0007848,Rare inborn errors of metabolism +GARD:0019255,GARD:0022512,GARD:0010353,GARD:0006619,Rare renal disease +GARD:0019256,GARD:0022531,GARD:0010353,GARD:0007433,Rare genetic disease +GARD:0019256,GARD:0022510,GARD:0010353,GARD:0007433,Rare skin disease +GARD:0019256,GARD:0022512,GARD:0010353,GARD:0006169,Rare renal disease +GARD:0019256,GARD:0022531,GARD:0019790,GARD:0007433,Rare genetic disease +GARD:0019256,GARD:0022506,GARD:0019790,GARD:0007433,Rare hepatic disease +GARD:0019256,GARD:0022508,GARD:0010353,GARD:0007433,Rare inborn errors of metabolism +GARD:0019256,GARD:0022506,GARD:0019790,GARD:0006169,Rare hepatic disease +GARD:0019256,GARD:0022508,GARD:0010353,GARD:0006169,Rare inborn errors of metabolism +GARD:0019256,GARD:0022531,GARD:0019790,GARD:0006169,Rare genetic disease +GARD:0019256,GARD:0022531,GARD:0010353,GARD:0006169,Rare genetic disease +GARD:0019256,GARD:0022510,GARD:0010353,GARD:0006169,Rare skin disease +GARD:0019256,GARD:0022512,GARD:0010353,GARD:0007433,Rare renal disease +GARD:0019257,GARD:0022521,GARD:0019802,GARD:0009449,Rare endocrine disease +GARD:0019257,GARD:0022521,GARD:0019802,GARD:0021409,Rare endocrine disease +GARD:0019258,GARD:0022516,GARD:0001502,,Rare gastroenterologic disease +GARD:0019258,GARD:0022536,GARD:0001502,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019259,GARD:0022519,GARD:0019550,,Rare surgical cardiac disease +GARD:0019259,GARD:0022513,GARD:0019550,,Rare developmental defect during embryogenesis +GARD:0019260,GARD:0022527,GARD:0018786,,Rare circulatory system disease +GARD:0019260,GARD:0022513,GARD:0018786,,Rare developmental defect during embryogenesis +GARD:0019260,GARD:0022519,GARD:0018786,,Rare surgical cardiac disease +GARD:0019261,GARD:0022519,GARD:0019555,,Rare surgical cardiac disease +GARD:0019261,GARD:0022513,GARD:0019555,,Rare developmental defect during embryogenesis +GARD:0019262,GARD:0022513,GARD:0019555,,Rare developmental defect during embryogenesis +GARD:0019262,GARD:0022519,GARD:0019555,,Rare surgical cardiac disease +GARD:0019263,GARD:0022519,GARD:0019555,,Rare surgical cardiac disease +GARD:0019263,GARD:0022513,GARD:0019555,,Rare developmental defect during embryogenesis +GARD:0019264,GARD:0022513,GARD:0019555,,Rare developmental defect during embryogenesis +GARD:0019264,GARD:0022519,GARD:0019555,,Rare surgical cardiac disease +GARD:0019265,GARD:0022513,GARD:0019555,GARD:0019624,Rare developmental defect during embryogenesis +GARD:0019265,GARD:0022519,GARD:0019555,GARD:0019623,Rare surgical cardiac disease +GARD:0019265,GARD:0022513,GARD:0019555,GARD:0019623,Rare developmental defect during embryogenesis +GARD:0019265,GARD:0022519,GARD:0019555,GARD:0019624,Rare surgical cardiac disease +GARD:0019266,GARD:0022519,GARD:0001495,GARD:0019630,Rare surgical cardiac disease +GARD:0019266,GARD:0022513,GARD:0001495,GARD:0001496,Rare developmental defect during embryogenesis +GARD:0019266,GARD:0022519,GARD:0001495,GARD:0003685,Rare surgical cardiac disease +GARD:0019266,GARD:0022519,GARD:0001495,GARD:0019628,Rare surgical cardiac disease +GARD:0019266,GARD:0022513,GARD:0001495,GARD:0019628,Rare developmental defect during embryogenesis +GARD:0019266,GARD:0022519,GARD:0001495,GARD:0019629,Rare surgical cardiac disease +GARD:0019266,GARD:0022513,GARD:0001495,GARD:0019627,Rare developmental defect during embryogenesis +GARD:0019266,GARD:0022513,GARD:0001495,GARD:0019626,Rare developmental defect during embryogenesis +GARD:0019266,GARD:0022519,GARD:0001495,GARD:0019627,Rare surgical cardiac disease +GARD:0019266,GARD:0022513,GARD:0001495,GARD:0003685,Rare developmental defect during embryogenesis +GARD:0019266,GARD:0022513,GARD:0001495,GARD:0019630,Rare developmental defect during embryogenesis +GARD:0019266,GARD:0022519,GARD:0001495,GARD:0019784,Rare surgical cardiac disease +GARD:0019266,GARD:0022519,GARD:0001495,GARD:0019626,Rare surgical cardiac disease +GARD:0019266,GARD:0022519,GARD:0001495,GARD:0003687,Rare surgical cardiac disease +GARD:0019266,GARD:0022519,GARD:0001495,GARD:0019625,Rare surgical cardiac disease +GARD:0019266,GARD:0022513,GARD:0001495,GARD:0003687,Rare developmental defect during embryogenesis +GARD:0019266,GARD:0022513,GARD:0001495,GARD:0019629,Rare developmental defect during embryogenesis +GARD:0019266,GARD:0022513,GARD:0001495,GARD:0019625,Rare developmental defect during embryogenesis +GARD:0019266,GARD:0022519,GARD:0001495,GARD:0001496,Rare surgical cardiac disease +GARD:0019266,GARD:0022513,GARD:0001495,GARD:0019784,Rare developmental defect during embryogenesis +GARD:0019267,GARD:0022519,GARD:0001495,GARD:0019631,Rare surgical cardiac disease +GARD:0019267,GARD:0022513,GARD:0001495,GARD:0019268,Rare developmental defect during embryogenesis +GARD:0019267,GARD:0022513,GARD:0001495,GARD:0019631,Rare developmental defect during embryogenesis +GARD:0019267,GARD:0022519,GARD:0001495,GARD:0019268,Rare surgical cardiac disease +GARD:0019268,GARD:0022513,GARD:0019267,,Rare developmental defect during embryogenesis +GARD:0019268,GARD:0022519,GARD:0019267,,Rare surgical cardiac disease +GARD:0019269,GARD:0022513,GARD:0019094,GARD:0018725,Rare developmental defect during embryogenesis +GARD:0019269,GARD:0022513,GARD:0019094,GARD:0006739,Rare developmental defect during embryogenesis +GARD:0019269,GARD:0022519,GARD:0019094,GARD:0002922,Rare surgical cardiac disease +GARD:0019269,GARD:0022519,GARD:0019094,GARD:0006739,Rare surgical cardiac disease +GARD:0019269,GARD:0022513,GARD:0019094,GARD:0002922,Rare developmental defect during embryogenesis +GARD:0019269,GARD:0022519,GARD:0019094,GARD:0018725,Rare surgical cardiac disease +GARD:0019270,GARD:0022527,GARD:0019556,GARD:0017828,Rare circulatory system disease +GARD:0019270,GARD:0022527,GARD:0019556,GARD:0019271,Rare circulatory system disease +GARD:0019270,GARD:0022519,GARD:0019556,GARD:0019634,Rare surgical cardiac disease +GARD:0019270,GARD:0022513,GARD:0019556,GARD:0019271,Rare developmental defect during embryogenesis +GARD:0019270,GARD:0022527,GARD:0019556,GARD:0019634,Rare circulatory system disease +GARD:0019270,GARD:0022519,GARD:0019556,GARD:0019271,Rare surgical cardiac disease +GARD:0019270,GARD:0022513,GARD:0019556,GARD:0019634,Rare developmental defect during embryogenesis +GARD:0019270,GARD:0022519,GARD:0019556,GARD:0017828,Rare surgical cardiac disease +GARD:0019270,GARD:0022513,GARD:0019556,GARD:0017828,Rare developmental defect during embryogenesis +GARD:0019271,GARD:0022527,GARD:0019270,,Rare circulatory system disease +GARD:0019271,GARD:0022519,GARD:0019270,,Rare surgical cardiac disease +GARD:0019271,GARD:0022513,GARD:0019270,,Rare developmental defect during embryogenesis +GARD:0019272,GARD:0022521,GARD:0019146,GARD:0013209,Rare endocrine disease +GARD:0019272,GARD:0022521,GARD:0019801,GARD:0005727,Rare endocrine disease +GARD:0019272,GARD:0022521,GARD:0019801,GARD:0002252,Rare endocrine disease +GARD:0019272,GARD:0022531,GARD:0020012,GARD:0002252,Rare genetic disease +GARD:0019272,GARD:0022531,GARD:0019801,GARD:0012556,Rare genetic disease +GARD:0019272,GARD:0022531,GARD:0020012,GARD:0010129,Rare genetic disease +GARD:0019272,GARD:0022531,GARD:0019801,GARD:0002252,Rare genetic disease +GARD:0019272,GARD:0022521,GARD:0019146,GARD:0002252,Rare endocrine disease +GARD:0019272,GARD:0022531,GARD:0020012,GARD:0005727,Rare genetic disease +GARD:0019272,GARD:0022531,GARD:0020012,GARD:0017436,Rare genetic disease +GARD:0019272,GARD:0022521,GARD:0019801,GARD:0020135,Rare endocrine disease +GARD:0019272,GARD:0022521,GARD:0019801,GARD:0012556,Rare endocrine disease +GARD:0019272,GARD:0022521,GARD:0019801,GARD:0013209,Rare endocrine disease +GARD:0019272,GARD:0022521,GARD:0019146,GARD:0005727,Rare endocrine disease +GARD:0019272,GARD:0022531,GARD:0020012,GARD:0020135,Rare genetic disease +GARD:0019272,GARD:0022521,GARD:0019146,GARD:0017436,Rare endocrine disease +GARD:0019272,GARD:0022531,GARD:0019801,GARD:0020135,Rare genetic disease +GARD:0019272,GARD:0022531,GARD:0019801,GARD:0010129,Rare genetic disease +GARD:0019272,GARD:0022521,GARD:0019146,GARD:0020135,Rare endocrine disease +GARD:0019272,GARD:0022521,GARD:0019801,GARD:0017436,Rare endocrine disease +GARD:0019272,GARD:0022531,GARD:0019801,GARD:0017436,Rare genetic disease +GARD:0019272,GARD:0022521,GARD:0019146,GARD:0012556,Rare endocrine disease +GARD:0019272,GARD:0022531,GARD:0020012,GARD:0013209,Rare genetic disease +GARD:0019272,GARD:0022521,GARD:0019801,GARD:0010129,Rare endocrine disease +GARD:0019272,GARD:0022531,GARD:0019801,GARD:0013209,Rare genetic disease +GARD:0019272,GARD:0022531,GARD:0019801,GARD:0005727,Rare genetic disease +GARD:0019272,GARD:0022531,GARD:0020012,GARD:0012556,Rare genetic disease +GARD:0019272,GARD:0022521,GARD:0019146,GARD:0010129,Rare endocrine disease +GARD:0019273,GARD:0022513,GARD:0001534,,Rare developmental defect during embryogenesis +GARD:0019273,GARD:0022519,GARD:0001534,,Rare surgical cardiac disease +GARD:0019274,GARD:0022531,GARD:0002252,GARD:0010604,Rare genetic disease +GARD:0019274,GARD:0022521,GARD:0002252,GARD:0007305,Rare endocrine disease +GARD:0019274,GARD:0022531,GARD:0002252,GARD:0013349,Rare genetic disease +GARD:0019274,GARD:0022521,GARD:0002252,GARD:0007627,Rare endocrine disease +GARD:0019274,GARD:0022531,GARD:0002252,GARD:0010603,Rare genetic disease +GARD:0019274,GARD:0022531,GARD:0002252,GARD:0016987,Rare genetic disease +GARD:0019274,GARD:0022521,GARD:0002252,GARD:0001443,Rare endocrine disease +GARD:0019274,GARD:0022531,GARD:0002252,GARD:0006665,Rare genetic disease +GARD:0019274,GARD:0022521,GARD:0002252,GARD:0006665,Rare endocrine disease +GARD:0019274,GARD:0022521,GARD:0002252,GARD:0000080,Rare endocrine disease +GARD:0019274,GARD:0022521,GARD:0002252,GARD:0005701,Rare endocrine disease +GARD:0019274,GARD:0022521,GARD:0002252,GARD:0013349,Rare endocrine disease +GARD:0019274,GARD:0022531,GARD:0002252,GARD:0007627,Rare genetic disease +GARD:0019274,GARD:0022531,GARD:0002252,GARD:0007305,Rare genetic disease +GARD:0019274,GARD:0022521,GARD:0002252,GARD:0017353,Rare endocrine disease +GARD:0019274,GARD:0022531,GARD:0002252,GARD:0017353,Rare genetic disease +GARD:0019274,GARD:0022521,GARD:0002252,GARD:0010604,Rare endocrine disease +GARD:0019274,GARD:0022521,GARD:0002252,GARD:0010603,Rare endocrine disease +GARD:0019274,GARD:0022531,GARD:0002252,GARD:0001443,Rare genetic disease +GARD:0019274,GARD:0022531,GARD:0002252,GARD:0000080,Rare genetic disease +GARD:0019274,GARD:0022521,GARD:0002252,GARD:0016987,Rare endocrine disease +GARD:0019274,GARD:0022531,GARD:0002252,GARD:0005701,Rare genetic disease +GARD:0019275,GARD:0022519,GARD:0018785,GARD:0019655,Rare surgical cardiac disease +GARD:0019275,GARD:0022513,GARD:0018785,GARD:0019657,Rare developmental defect during embryogenesis +GARD:0019275,GARD:0022513,GARD:0018785,GARD:0019652,Rare developmental defect during embryogenesis +GARD:0019275,GARD:0022527,GARD:0018785,GARD:0019654,Rare circulatory system disease +GARD:0019275,GARD:0022519,GARD:0018785,GARD:0019653,Rare surgical cardiac disease +GARD:0019275,GARD:0022513,GARD:0018785,GARD:0019655,Rare developmental defect during embryogenesis +GARD:0019275,GARD:0022527,GARD:0018785,GARD:0019653,Rare circulatory system disease +GARD:0019275,GARD:0022519,GARD:0018785,GARD:0019652,Rare surgical cardiac disease +GARD:0019275,GARD:0022513,GARD:0018785,GARD:0019653,Rare developmental defect during embryogenesis +GARD:0019275,GARD:0022519,GARD:0018785,GARD:0019656,Rare surgical cardiac disease +GARD:0019275,GARD:0022527,GARD:0018785,GARD:0019655,Rare circulatory system disease +GARD:0019275,GARD:0022527,GARD:0018785,GARD:0019656,Rare circulatory system disease +GARD:0019275,GARD:0022513,GARD:0018785,GARD:0019654,Rare developmental defect during embryogenesis +GARD:0019275,GARD:0022519,GARD:0018785,GARD:0019657,Rare surgical cardiac disease +GARD:0019275,GARD:0022527,GARD:0018785,GARD:0019657,Rare circulatory system disease +GARD:0019275,GARD:0022527,GARD:0018785,GARD:0019652,Rare circulatory system disease +GARD:0019275,GARD:0022513,GARD:0018785,GARD:0019656,Rare developmental defect during embryogenesis +GARD:0019275,GARD:0022519,GARD:0018785,GARD:0019654,Rare surgical cardiac disease +GARD:0019276,GARD:0022513,GARD:0018785,GARD:0019661,Rare developmental defect during embryogenesis +GARD:0019276,GARD:0022527,GARD:0018785,GARD:0019664,Rare circulatory system disease +GARD:0019276,GARD:0022519,GARD:0018785,GARD:0019662,Rare surgical cardiac disease +GARD:0019276,GARD:0022527,GARD:0018785,GARD:0019660,Rare circulatory system disease +GARD:0019276,GARD:0022527,GARD:0018785,GARD:0019662,Rare circulatory system disease +GARD:0019276,GARD:0022513,GARD:0018785,GARD:0019662,Rare developmental defect during embryogenesis +GARD:0019276,GARD:0022519,GARD:0018785,GARD:0019661,Rare surgical cardiac disease +GARD:0019276,GARD:0022527,GARD:0018785,GARD:0019663,Rare circulatory system disease +GARD:0019276,GARD:0022519,GARD:0018785,GARD:0019663,Rare surgical cardiac disease +GARD:0019276,GARD:0022519,GARD:0018785,GARD:0019660,Rare surgical cardiac disease +GARD:0019276,GARD:0022513,GARD:0018785,GARD:0019663,Rare developmental defect during embryogenesis +GARD:0019276,GARD:0022513,GARD:0018785,GARD:0019660,Rare developmental defect during embryogenesis +GARD:0019276,GARD:0022527,GARD:0018785,GARD:0019661,Rare circulatory system disease +GARD:0019276,GARD:0022513,GARD:0018785,GARD:0019664,Rare developmental defect during embryogenesis +GARD:0019276,GARD:0022519,GARD:0018785,GARD:0019664,Rare surgical cardiac disease +GARD:0019277,GARD:0022519,GARD:0018785,GARD:0019658,Rare surgical cardiac disease +GARD:0019277,GARD:0022527,GARD:0018785,GARD:0019658,Rare circulatory system disease +GARD:0019277,GARD:0022513,GARD:0018785,GARD:0019658,Rare developmental defect during embryogenesis +GARD:0019277,GARD:0022513,GARD:0018785,GARD:0019659,Rare developmental defect during embryogenesis +GARD:0019277,GARD:0022519,GARD:0018785,GARD:0019659,Rare surgical cardiac disease +GARD:0019277,GARD:0022527,GARD:0018785,GARD:0019659,Rare circulatory system disease +GARD:0019278,GARD:0022521,GARD:0019801,GARD:0020331,Rare endocrine disease +GARD:0019278,GARD:0022521,GARD:0019801,GARD:0019279,Rare endocrine disease +GARD:0019278,GARD:0022521,GARD:0019801,GARD:0019286,Rare endocrine disease +GARD:0019278,GARD:0022521,GARD:0019801,GARD:0019280,Rare endocrine disease +GARD:0019278,GARD:0022521,GARD:0019801,GARD:0019289,Rare endocrine disease +GARD:0019278,GARD:0022521,GARD:0019801,GARD:0019290,Rare endocrine disease +GARD:0019278,GARD:0022521,GARD:0019801,GARD:0019281,Rare endocrine disease +GARD:0019278,GARD:0022521,GARD:0019801,GARD:0019287,Rare endocrine disease +GARD:0019278,GARD:0022521,GARD:0019801,GARD:0019288,Rare endocrine disease +GARD:0019279,GARD:0022521,GARD:0019278,GARD:0001303,Rare endocrine disease +GARD:0019279,GARD:0022521,GARD:0019278,GARD:0010486,Rare endocrine disease +GARD:0019279,GARD:0022521,GARD:0019278,GARD:0004107,Rare endocrine disease +GARD:0019279,GARD:0022521,GARD:0019278,GARD:0019160,Rare endocrine disease +GARD:0019279,GARD:0022521,GARD:0019278,GARD:0019680,Rare endocrine disease +GARD:0019279,GARD:0022521,GARD:0019278,GARD:0019161,Rare endocrine disease +GARD:0019279,GARD:0022521,GARD:0019278,GARD:0007015,Rare endocrine disease +GARD:0019279,GARD:0022521,GARD:0019278,GARD:0019162,Rare endocrine disease +GARD:0019280,GARD:0022521,GARD:0019278,GARD:0000017,Rare endocrine disease +GARD:0019280,GARD:0022521,GARD:0019278,GARD:0019163,Rare endocrine disease +GARD:0019281,GARD:0022521,GARD:0019278,GARD:0020632,Rare endocrine disease +GARD:0019281,GARD:0022521,GARD:0019278,GARD:0019285,Rare endocrine disease +GARD:0019281,GARD:0022521,GARD:0019278,GARD:0019284,Rare endocrine disease +GARD:0019282,GARD:0022513,GARD:0018785,,Rare developmental defect during embryogenesis +GARD:0019282,GARD:0022527,GARD:0018785,,Rare circulatory system disease +GARD:0019282,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019282,GARD:0022506,GARD:0019788,,Rare hepatic disease +GARD:0019282,GARD:0022519,GARD:0018785,,Rare surgical cardiac disease +GARD:0019283,GARD:0022513,GARD:0019558,GARD:0019648,Rare developmental defect during embryogenesis +GARD:0019283,GARD:0022519,GARD:0019558,GARD:0019648,Rare surgical cardiac disease +GARD:0019283,GARD:0022513,GARD:0019558,GARD:0019649,Rare developmental defect during embryogenesis +GARD:0019283,GARD:0022513,GARD:0019558,GARD:0019650,Rare developmental defect during embryogenesis +GARD:0019283,GARD:0022519,GARD:0019558,GARD:0019650,Rare surgical cardiac disease +GARD:0019283,GARD:0022519,GARD:0019558,GARD:0019649,Rare surgical cardiac disease +GARD:0019284,GARD:0022521,GARD:0019281,,Rare endocrine disease +GARD:0019285,GARD:0022521,GARD:0019281,,Rare endocrine disease +GARD:0019286,GARD:0022521,GARD:0019278,GARD:0007630,Rare endocrine disease +GARD:0019287,GARD:0022521,GARD:0019278,,Rare endocrine disease +GARD:0019288,GARD:0022521,GARD:0019278,GARD:0007607,Rare endocrine disease +GARD:0019288,GARD:0022521,GARD:0019278,GARD:0007827,Rare endocrine disease +GARD:0019289,GARD:0022521,GARD:0019278,GARD:0016829,Rare endocrine disease +GARD:0019289,GARD:0022521,GARD:0019278,GARD:0000871,Rare endocrine disease +GARD:0019290,GARD:0022521,GARD:0019278,,Rare endocrine disease +GARD:0019291,GARD:0022521,GARD:0006015,,Rare endocrine disease +GARD:0019292,GARD:0022513,GARD:0020252,,Rare developmental defect during embryogenesis +GARD:0019292,GARD:0022532,GARD:0020252,,Rare urogenital disease +GARD:0019292,GARD:0022536,GARD:0020252,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019293,GARD:0022531,GARD:0020012,GARD:0007611,Rare genetic disease +GARD:0019293,GARD:0022514,GARD:0020200,GARD:0007611,Rare gynecologic or obstetric disease +GARD:0019293,GARD:0022521,GARD:0019146,GARD:0007611,Rare endocrine disease +GARD:0019293,GARD:0022521,GARD:0019146,GARD:0008466,Rare endocrine disease +GARD:0019293,GARD:0022531,GARD:0020012,GARD:0008466,Rare genetic disease +GARD:0019293,GARD:0022514,GARD:0020200,GARD:0008466,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0017760,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0009904,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0017728,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0005862,Rare endocrine disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0013639,Rare endocrine disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0017783,Rare endocrine disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0019345,Rare endocrine disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0007831,Rare endocrine disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0005672,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0001465,Rare endocrine disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0002542,Rare endocrine disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0007754,Rare endocrine disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0000160,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0005862,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0001469,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0013639,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0018008,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0005671,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0005671,Rare endocrine disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0007831,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0000160,Rare endocrine disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0001469,Rare endocrine disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0000365,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0018008,Rare endocrine disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0005672,Rare endocrine disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0007754,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0009904,Rare endocrine disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0001465,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0017760,Rare endocrine disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0017728,Rare endocrine disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0019345,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0017783,Rare gynecologic or obstetric disease +GARD:0019294,GARD:0022521,GARD:0019146,GARD:0000365,Rare endocrine disease +GARD:0019294,GARD:0022514,GARD:0020200,GARD:0002542,Rare gynecologic or obstetric disease +GARD:0019295,GARD:0022531,GARD:0020561,GARD:0008426,Rare genetic disease +GARD:0019295,GARD:0022521,GARD:0020561,GARD:0016844,Rare endocrine disease +GARD:0019295,GARD:0022531,GARD:0020561,GARD:0016842,Rare genetic disease +GARD:0019295,GARD:0022531,GARD:0020561,GARD:0016841,Rare genetic disease +GARD:0019295,GARD:0022531,GARD:0020561,GARD:0016844,Rare genetic disease +GARD:0019295,GARD:0022521,GARD:0020561,GARD:0016841,Rare endocrine disease +GARD:0019295,GARD:0022521,GARD:0020561,GARD:0016842,Rare endocrine disease +GARD:0019295,GARD:0022521,GARD:0020561,GARD:0008426,Rare endocrine disease +GARD:0019296,GARD:0022521,GARD:0020561,GARD:0016843,Rare endocrine disease +GARD:0019296,GARD:0022531,GARD:0020561,GARD:0016793,Rare genetic disease +GARD:0019296,GARD:0022531,GARD:0020561,GARD:0016843,Rare genetic disease +GARD:0019296,GARD:0022531,GARD:0020561,GARD:0019298,Rare genetic disease +GARD:0019296,GARD:0022521,GARD:0020561,GARD:0019298,Rare endocrine disease +GARD:0019296,GARD:0022521,GARD:0020561,GARD:0016793,Rare endocrine disease +GARD:0019297,GARD:0022521,GARD:0020645,,Rare endocrine disease +GARD:0019298,GARD:0022521,GARD:0019296,,Rare endocrine disease +GARD:0019298,GARD:0022531,GARD:0019296,,Rare genetic disease +GARD:0019299,GARD:0022521,GARD:0019799,GARD:0005204,Rare endocrine disease +GARD:0019299,GARD:0022521,GARD:0019799,GARD:0016844,Rare endocrine disease +GARD:0019299,GARD:0022521,GARD:0019799,GARD:0008426,Rare endocrine disease +GARD:0019300,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0019300,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0019301,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0019301,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0019302,GARD:0022531,GARD:0019419,,Rare genetic disease +GARD:0019302,GARD:0022513,GARD:0019419,,Rare developmental defect during embryogenesis +GARD:0019303,GARD:0022513,GARD:0020919,,Rare developmental defect during embryogenesis +GARD:0019303,GARD:0022531,GARD:0020919,,Rare genetic disease +GARD:0019304,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0019304,GARD:0022513,GARD:0020859,,Rare developmental defect during embryogenesis +GARD:0019304,GARD:0022531,GARD:0020859,,Rare genetic disease +GARD:0019304,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0019305,GARD:0022513,GARD:0020860,,Rare developmental defect during embryogenesis +GARD:0019305,GARD:0022531,GARD:0020860,,Rare genetic disease +GARD:0019306,GARD:0022513,GARD:0020861,,Rare developmental defect during embryogenesis +GARD:0019306,GARD:0022513,GARD:0019214,,Rare developmental defect during embryogenesis +GARD:0019306,GARD:0022531,GARD:0020861,,Rare genetic disease +GARD:0019306,GARD:0022531,GARD:0019214,,Rare genetic disease +GARD:0019307,GARD:0022531,GARD:0020864,,Rare genetic disease +GARD:0019307,GARD:0022513,GARD:0020864,,Rare developmental defect during embryogenesis +GARD:0019308,GARD:0022535,GARD:0003343,,Rare neoplastic disease +GARD:0019308,GARD:0022528,GARD:0003343,,Rare otorhinolaryngologic disease +GARD:0019308,GARD:0022507,GARD:0003343,,Rare maxillo-facial surgical disease +GARD:0019308,GARD:0022513,GARD:0003343,,Rare developmental defect during embryogenesis +GARD:0019308,GARD:0022531,GARD:0020868,,Rare genetic disease +GARD:0019308,GARD:0022515,GARD:0003343,,Rare cardiac disease +GARD:0019308,GARD:0022536,GARD:0003343,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019308,GARD:0022513,GARD:0020868,,Rare developmental defect during embryogenesis +GARD:0019308,GARD:0022531,GARD:0003343,,Rare genetic disease +GARD:0019308,GARD:0022512,GARD:0003343,,Rare renal disease +GARD:0019309,GARD:0022513,GARD:0020906,,Rare developmental defect during embryogenesis +GARD:0019309,GARD:0022531,GARD:0020906,,Rare genetic disease +GARD:0019310,GARD:0022513,GARD:0020873,,Rare developmental defect during embryogenesis +GARD:0019310,GARD:0022531,GARD:0020873,,Rare genetic disease +GARD:0019311,GARD:0022513,GARD:0020874,,Rare developmental defect during embryogenesis +GARD:0019311,GARD:0022531,GARD:0020874,,Rare genetic disease +GARD:0019311,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0019311,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0019312,GARD:0022531,GARD:0020875,,Rare genetic disease +GARD:0019312,GARD:0022513,GARD:0020875,,Rare developmental defect during embryogenesis +GARD:0019313,GARD:0022531,GARD:0020876,,Rare genetic disease +GARD:0019313,GARD:0022513,GARD:0020876,,Rare developmental defect during embryogenesis +GARD:0019314,GARD:0022531,GARD:0020877,,Rare genetic disease +GARD:0019314,GARD:0022513,GARD:0020877,,Rare developmental defect during embryogenesis +GARD:0019315,GARD:0022513,GARD:0020879,,Rare developmental defect during embryogenesis +GARD:0019315,GARD:0022531,GARD:0020879,,Rare genetic disease +GARD:0019316,GARD:0022513,GARD:0020880,,Rare developmental defect during embryogenesis +GARD:0019316,GARD:0022531,GARD:0020880,,Rare genetic disease +GARD:0019317,GARD:0022531,GARD:0020881,,Rare genetic disease +GARD:0019317,GARD:0022520,GARD:0019528,,Rare ophthalmic disorder +GARD:0019317,GARD:0022531,GARD:0019528,,Rare genetic disease +GARD:0019317,GARD:0022513,GARD:0020881,,Rare developmental defect during embryogenesis +GARD:0019318,GARD:0022531,GARD:0020882,,Rare genetic disease +GARD:0019318,GARD:0022513,GARD:0020882,,Rare developmental defect during embryogenesis +GARD:0019319,GARD:0022513,GARD:0020883,,Rare developmental defect during embryogenesis +GARD:0019319,GARD:0022531,GARD:0020883,,Rare genetic disease +GARD:0019320,GARD:0022513,GARD:0020886,,Rare developmental defect during embryogenesis +GARD:0019320,GARD:0022531,GARD:0020886,,Rare genetic disease +GARD:0019321,GARD:0022531,GARD:0020890,,Rare genetic disease +GARD:0019321,GARD:0022513,GARD:0020890,,Rare developmental defect during embryogenesis +GARD:0019322,GARD:0022513,GARD:0020891,,Rare developmental defect during embryogenesis +GARD:0019322,GARD:0022531,GARD:0020891,,Rare genetic disease +GARD:0019323,GARD:0022513,GARD:0020880,,Rare developmental defect during embryogenesis +GARD:0019323,GARD:0022531,GARD:0020880,,Rare genetic disease +GARD:0019324,GARD:0022531,GARD:0019421,,Rare genetic disease +GARD:0019324,GARD:0022513,GARD:0019421,,Rare developmental defect during embryogenesis +GARD:0019325,GARD:0022531,GARD:0020811,,Rare genetic disease +GARD:0019325,GARD:0022513,GARD:0020811,,Rare developmental defect during embryogenesis +GARD:0019326,GARD:0022513,GARD:0020819,,Rare developmental defect during embryogenesis +GARD:0019326,GARD:0022531,GARD:0020819,,Rare genetic disease +GARD:0019327,GARD:0022513,GARD:0020824,,Rare developmental defect during embryogenesis +GARD:0019327,GARD:0022531,GARD:0020824,,Rare genetic disease +GARD:0019328,GARD:0022531,GARD:0020800,,Rare genetic disease +GARD:0019328,GARD:0022513,GARD:0020800,,Rare developmental defect during embryogenesis +GARD:0019329,GARD:0022513,GARD:0020833,,Rare developmental defect during embryogenesis +GARD:0019329,GARD:0022531,GARD:0020833,,Rare genetic disease +GARD:0019330,GARD:0022531,GARD:0020800,,Rare genetic disease +GARD:0019330,GARD:0022513,GARD:0020800,,Rare developmental defect during embryogenesis +GARD:0019331,GARD:0022531,GARD:0019424,,Rare genetic disease +GARD:0019331,GARD:0022513,GARD:0019424,,Rare developmental defect during embryogenesis +GARD:0019332,GARD:0022531,GARD:0019424,,Rare genetic disease +GARD:0019332,GARD:0022513,GARD:0019424,,Rare developmental defect during embryogenesis +GARD:0019333,GARD:0022531,GARD:0019424,,Rare genetic disease +GARD:0019333,GARD:0022513,GARD:0019424,,Rare developmental defect during embryogenesis +GARD:0019334,GARD:0022531,GARD:0019424,,Rare genetic disease +GARD:0019334,GARD:0022535,GARD:0004870,,Rare neoplastic disease +GARD:0019334,GARD:0022524,GARD:0004870,,Rare neurologic disease +GARD:0019334,GARD:0022531,GARD:0004870,,Rare genetic disease +GARD:0019334,GARD:0022513,GARD:0004870,,Rare developmental defect during embryogenesis +GARD:0019334,GARD:0022513,GARD:0019424,,Rare developmental defect during embryogenesis +GARD:0019334,GARD:0022520,GARD:0004870,,Rare ophthalmic disorder +GARD:0019335,GARD:0022531,GARD:0019424,,Rare genetic disease +GARD:0019335,GARD:0022513,GARD:0019424,,Rare developmental defect during embryogenesis +GARD:0019336,GARD:0022531,GARD:0019424,,Rare genetic disease +GARD:0019336,GARD:0022531,GARD:0019874,,Rare genetic disease +GARD:0019336,GARD:0022536,GARD:0019874,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019336,GARD:0022513,GARD:0019424,,Rare developmental defect during embryogenesis +GARD:0019336,GARD:0022534,GARD:0019874,,Rare abdominal surgical disease +GARD:0019336,GARD:0022513,GARD:0019874,,Rare developmental defect during embryogenesis +GARD:0019337,GARD:0022531,GARD:0019424,,Rare genetic disease +GARD:0019337,GARD:0022513,GARD:0019424,,Rare developmental defect during embryogenesis +GARD:0019338,GARD:0022531,GARD:0019424,,Rare genetic disease +GARD:0019338,GARD:0022513,GARD:0019424,,Rare developmental defect during embryogenesis +GARD:0019339,GARD:0022513,GARD:0019425,,Rare developmental defect during embryogenesis +GARD:0019339,GARD:0022531,GARD:0019425,,Rare genetic disease +GARD:0019340,GARD:0022513,GARD:0019425,,Rare developmental defect during embryogenesis +GARD:0019340,GARD:0022531,GARD:0019425,,Rare genetic disease +GARD:0019341,GARD:0022513,GARD:0019425,,Rare developmental defect during embryogenesis +GARD:0019341,GARD:0022531,GARD:0019425,,Rare genetic disease +GARD:0019342,GARD:0022513,GARD:0019425,,Rare developmental defect during embryogenesis +GARD:0019342,GARD:0022536,GARD:0003343,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019342,GARD:0022528,GARD:0003343,,Rare otorhinolaryngologic disease +GARD:0019342,GARD:0022513,GARD:0003343,,Rare developmental defect during embryogenesis +GARD:0019342,GARD:0022512,GARD:0003343,,Rare renal disease +GARD:0019342,GARD:0022531,GARD:0003343,,Rare genetic disease +GARD:0019342,GARD:0022531,GARD:0019425,,Rare genetic disease +GARD:0019342,GARD:0022535,GARD:0003343,,Rare neoplastic disease +GARD:0019342,GARD:0022515,GARD:0003343,,Rare cardiac disease +GARD:0019342,GARD:0022507,GARD:0003343,,Rare maxillo-facial surgical disease +GARD:0019343,GARD:0022531,GARD:0019425,,Rare genetic disease +GARD:0019343,GARD:0022513,GARD:0019425,,Rare developmental defect during embryogenesis +GARD:0019344,GARD:0022531,GARD:0019425,,Rare genetic disease +GARD:0019344,GARD:0022513,GARD:0019425,,Rare developmental defect during embryogenesis +GARD:0019345,GARD:0022531,GARD:0021992,,Rare genetic disease +GARD:0019345,GARD:0022513,GARD:0019430,,Rare developmental defect during embryogenesis +GARD:0019345,GARD:0022531,GARD:0019430,,Rare genetic disease +GARD:0019345,GARD:0022521,GARD:0019294,,Rare endocrine disease +GARD:0019345,GARD:0022531,GARD:0021693,,Rare genetic disease +GARD:0019345,GARD:0022529,GARD:0021682,,Rare infertility +GARD:0019345,GARD:0022514,GARD:0019294,,Rare gynecologic or obstetric disease +GARD:0019346,GARD:0022531,GARD:0021935,GARD:0019145,Rare genetic disease +GARD:0019346,GARD:0022531,GARD:0021935,GARD:0019091,Rare genetic disease +GARD:0019347,GARD:0022514,GARD:0020188,,Rare gynecologic or obstetric disease +GARD:0019347,GARD:0022529,GARD:0020188,,Rare infertility +GARD:0019347,GARD:0022532,GARD:0020188,,Rare urogenital disease +GARD:0019347,GARD:0022536,GARD:0020188,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019347,GARD:0022513,GARD:0020188,,Rare developmental defect during embryogenesis +GARD:0019348,GARD:0022531,GARD:0018874,GARD:0005295,Rare genetic disease +GARD:0019348,GARD:0022513,GARD:0018874,GARD:0005151,Rare developmental defect during embryogenesis +GARD:0019348,GARD:0022531,GARD:0018874,GARD:0005151,Rare genetic disease +GARD:0019348,GARD:0022513,GARD:0018874,GARD:0005295,Rare developmental defect during embryogenesis +GARD:0019349,GARD:0022531,GARD:0019429,GARD:0019579,Rare genetic disease +GARD:0019349,GARD:0022513,GARD:0019429,GARD:0019580,Rare developmental defect during embryogenesis +GARD:0019349,GARD:0022531,GARD:0019429,GARD:0019580,Rare genetic disease +GARD:0019349,GARD:0022513,GARD:0019429,GARD:0019579,Rare developmental defect during embryogenesis +GARD:0019350,GARD:0022513,GARD:0019972,GARD:0019979,Rare developmental defect during embryogenesis +GARD:0019350,GARD:0022528,GARD:0022528,GARD:0019973,Rare otorhinolaryngologic disease +GARD:0019350,GARD:0022528,GARD:0022528,GARD:0020000,Rare otorhinolaryngologic disease +GARD:0019350,GARD:0022528,GARD:0022528,GARD:0019999,Rare otorhinolaryngologic disease +GARD:0019350,GARD:0022528,GARD:0022528,GARD:0020002,Rare otorhinolaryngologic disease +GARD:0019350,GARD:0022513,GARD:0019972,GARD:0020000,Rare developmental defect during embryogenesis +GARD:0019350,GARD:0022513,GARD:0019972,GARD:0020056,Rare developmental defect during embryogenesis +GARD:0019350,GARD:0022528,GARD:0022528,GARD:0020056,Rare otorhinolaryngologic disease +GARD:0019350,GARD:0022513,GARD:0019972,GARD:0020002,Rare developmental defect during embryogenesis +GARD:0019350,GARD:0022528,GARD:0022528,GARD:0019979,Rare otorhinolaryngologic disease +GARD:0019350,GARD:0022513,GARD:0019972,GARD:0020001,Rare developmental defect during embryogenesis +GARD:0019350,GARD:0022528,GARD:0022528,GARD:0020001,Rare otorhinolaryngologic disease +GARD:0019350,GARD:0022513,GARD:0019972,GARD:0019973,Rare developmental defect during embryogenesis +GARD:0019350,GARD:0022513,GARD:0019972,GARD:0019999,Rare developmental defect during embryogenesis +GARD:0019351,GARD:0022531,GARD:0020295,GARD:0016534,Rare genetic disease +GARD:0019351,GARD:0022513,GARD:0019391,GARD:0019874,Rare developmental defect during embryogenesis +GARD:0019351,GARD:0022534,GARD:0019391,GARD:0016534,Rare abdominal surgical disease +GARD:0019351,GARD:0022531,GARD:0020295,GARD:0019874,Rare genetic disease +GARD:0019351,GARD:0022536,GARD:0022062,GARD:0016534,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019351,GARD:0022513,GARD:0019391,GARD:0016534,Rare developmental defect during embryogenesis +GARD:0019351,GARD:0022534,GARD:0019391,GARD:0019874,Rare abdominal surgical disease +GARD:0019351,GARD:0022536,GARD:0022062,GARD:0019874,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019352,GARD:0022524,GARD:0019389,,Rare neurologic disease +GARD:0019353,GARD:0022510,GARD:0019018,,Rare skin disease +GARD:0019354,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0019354,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0019355,GARD:0022524,GARD:0019483,,Rare neurologic disease +GARD:0019355,GARD:0022513,GARD:0019483,,Rare developmental defect during embryogenesis +GARD:0019356,GARD:0022516,GARD:0022053,,Rare gastroenterologic disease +GARD:0019356,GARD:0022535,GARD:0022053,,Rare neoplastic disease +GARD:0019356,GARD:0022521,GARD:0022053,,Rare endocrine disease +GARD:0019357,GARD:0022524,GARD:0019818,GARD:0020051,Rare neurologic disease +GARD:0019357,GARD:0022524,GARD:0019818,GARD:0019433,Rare neurologic disease +GARD:0019357,GARD:0022524,GARD:0019818,GARD:0011979,Rare neurologic disease +GARD:0019357,GARD:0022524,GARD:0019818,GARD:0019434,Rare neurologic disease +GARD:0019358,GARD:0022516,GARD:0022053,,Rare gastroenterologic disease +GARD:0019358,GARD:0022521,GARD:0022053,,Rare endocrine disease +GARD:0019358,GARD:0022535,GARD:0022053,,Rare neoplastic disease +GARD:0019359,GARD:0022521,GARD:0019762,,Rare endocrine disease +GARD:0019359,GARD:0022535,GARD:0021064,,Rare neoplastic disease +GARD:0019359,GARD:0022522,GARD:0021064,,Rare hematologic disease +GARD:0019359,GARD:0022535,GARD:0019762,,Rare neoplastic disease +GARD:0019359,GARD:0022536,GARD:0021064,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019360,GARD:0022535,GARD:0019768,,Rare neoplastic disease +GARD:0019360,GARD:0022517,GARD:0019794,,Rare respiratory disease +GARD:0019360,GARD:0022521,GARD:0019768,,Rare endocrine disease +GARD:0019360,GARD:0022535,GARD:0019794,,Rare neoplastic disease +GARD:0019361,GARD:0022535,GARD:0019768,,Rare neoplastic disease +GARD:0019361,GARD:0022535,GARD:0019767,,Rare neoplastic disease +GARD:0019361,GARD:0022521,GARD:0019768,,Rare endocrine disease +GARD:0019362,GARD:0022515,GARD:0022515,,Rare cardiac disease +GARD:0019363,GARD:0022535,GARD:0020201,GARD:0021375,Rare neoplastic disease +GARD:0019363,GARD:0022535,GARD:0020201,GARD:0021373,Rare neoplastic disease +GARD:0019363,GARD:0022535,GARD:0020201,GARD:0021372,Rare neoplastic disease +GARD:0019363,GARD:0022535,GARD:0020201,GARD:0021374,Rare neoplastic disease +GARD:0019363,GARD:0022514,GARD:0020201,GARD:0021376,Rare gynecologic or obstetric disease +GARD:0019363,GARD:0022535,GARD:0020201,GARD:0022304,Rare neoplastic disease +GARD:0019363,GARD:0022514,GARD:0020201,GARD:0021373,Rare gynecologic or obstetric disease +GARD:0019363,GARD:0022514,GARD:0020201,GARD:0020346,Rare gynecologic or obstetric disease +GARD:0019363,GARD:0022535,GARD:0020201,GARD:0021376,Rare neoplastic disease +GARD:0019363,GARD:0022514,GARD:0020201,GARD:0022304,Rare gynecologic or obstetric disease +GARD:0019363,GARD:0022514,GARD:0020201,GARD:0021374,Rare gynecologic or obstetric disease +GARD:0019363,GARD:0022514,GARD:0020201,GARD:0021375,Rare gynecologic or obstetric disease +GARD:0019363,GARD:0022535,GARD:0020201,GARD:0020346,Rare neoplastic disease +GARD:0019363,GARD:0022514,GARD:0020201,GARD:0021372,Rare gynecologic or obstetric disease +GARD:0019364,GARD:0022511,GARD:0012704,,Rare bone disease +GARD:0019364,GARD:0022525,GARD:0012704,,Rare systemic or rheumatologic disease +GARD:0019365,GARD:0022525,GARD:0012704,,Rare systemic or rheumatologic disease +GARD:0019365,GARD:0022511,GARD:0012704,,Rare bone disease +GARD:0019366,GARD:0022511,GARD:0012704,,Rare bone disease +GARD:0019366,GARD:0022525,GARD:0012704,,Rare systemic or rheumatologic disease +GARD:0019367,GARD:0022535,GARD:0018907,,Rare neoplastic disease +GARD:0019368,GARD:0022524,GARD:0019819,,Rare neurologic disease +GARD:0019368,GARD:0022513,GARD:0020464,,Rare developmental defect during embryogenesis +GARD:0019368,GARD:0022527,GARD:0020464,,Rare circulatory system disease +GARD:0019369,GARD:0022520,GARD:0022102,,Rare ophthalmic disorder +GARD:0019369,GARD:0022531,GARD:0022183,,Rare genetic disease +GARD:0019370,GARD:0022524,GARD:0019489,,Rare neurologic disease +GARD:0019370,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0019371,GARD:0022524,GARD:0019096,,Rare neurologic disease +GARD:0019372,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0019372,GARD:0022524,GARD:0019096,,Rare neurologic disease +GARD:0019373,GARD:0022536,GARD:0019172,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019373,GARD:0022512,GARD:0019172,,Rare renal disease +GARD:0019373,GARD:0022531,GARD:0019172,,Rare genetic disease +GARD:0019373,GARD:0022513,GARD:0019172,,Rare developmental defect during embryogenesis +GARD:0019374,GARD:0022513,GARD:0019172,,Rare developmental defect during embryogenesis +GARD:0019374,GARD:0022531,GARD:0019172,,Rare genetic disease +GARD:0019374,GARD:0022512,GARD:0019172,,Rare renal disease +GARD:0019374,GARD:0022536,GARD:0019172,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019375,GARD:0022536,GARD:0018748,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019375,GARD:0022531,GARD:0018748,,Rare genetic disease +GARD:0019375,GARD:0022513,GARD:0018748,,Rare developmental defect during embryogenesis +GARD:0019375,GARD:0022512,GARD:0018748,,Rare renal disease +GARD:0019376,GARD:0022512,GARD:0019233,,Rare renal disease +GARD:0019376,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019376,GARD:0022535,GARD:0019233,,Rare neoplastic disease +GARD:0019377,GARD:0022513,GARD:0000379,,Rare developmental defect during embryogenesis +GARD:0019377,GARD:0022512,GARD:0000379,,Rare renal disease +GARD:0019377,GARD:0022536,GARD:0000379,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019378,GARD:0022536,GARD:0000379,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019378,GARD:0022513,GARD:0000379,,Rare developmental defect during embryogenesis +GARD:0019378,GARD:0022512,GARD:0000379,,Rare renal disease +GARD:0019379,GARD:0022512,GARD:0019175,,Rare renal disease +GARD:0019379,GARD:0022536,GARD:0019175,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019380,GARD:0022512,GARD:0019175,,Rare renal disease +GARD:0019380,GARD:0022536,GARD:0019175,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019381,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019381,GARD:0022527,GARD:0019232,,Rare circulatory system disease +GARD:0019381,GARD:0022512,GARD:0019232,,Rare renal disease +GARD:0019382,GARD:0022531,GARD:0019424,,Rare genetic disease +GARD:0019382,GARD:0022513,GARD:0019424,,Rare developmental defect during embryogenesis +GARD:0019383,GARD:0022531,GARD:0020295,GARD:0019857,Rare genetic disease +GARD:0019383,GARD:0022531,GARD:0020295,GARD:0019858,Rare genetic disease +GARD:0019383,GARD:0022513,GARD:0019391,GARD:0019858,Rare developmental defect during embryogenesis +GARD:0019383,GARD:0022513,GARD:0019391,GARD:0019857,Rare developmental defect during embryogenesis +GARD:0019383,GARD:0022534,GARD:0019391,GARD:0019858,Rare abdominal surgical disease +GARD:0019383,GARD:0022534,GARD:0019391,GARD:0019857,Rare abdominal surgical disease +GARD:0019384,GARD:0022513,GARD:0019391,GARD:0019860,Rare developmental defect during embryogenesis +GARD:0019384,GARD:0022536,GARD:0022062,GARD:0020122,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019384,GARD:0022534,GARD:0019391,GARD:0020122,Rare abdominal surgical disease +GARD:0019384,GARD:0022536,GARD:0022062,GARD:0019860,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019384,GARD:0022531,GARD:0020295,GARD:0020122,Rare genetic disease +GARD:0019384,GARD:0022513,GARD:0019391,GARD:0020122,Rare developmental defect during embryogenesis +GARD:0019384,GARD:0022534,GARD:0019391,GARD:0019859,Rare abdominal surgical disease +GARD:0019384,GARD:0022534,GARD:0019391,GARD:0019860,Rare abdominal surgical disease +GARD:0019384,GARD:0022531,GARD:0020295,GARD:0019860,Rare genetic disease +GARD:0019384,GARD:0022531,GARD:0020295,GARD:0019859,Rare genetic disease +GARD:0019384,GARD:0022513,GARD:0019391,GARD:0019859,Rare developmental defect during embryogenesis +GARD:0019384,GARD:0022536,GARD:0022062,GARD:0019859,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019385,GARD:0022517,GARD:0022517,GARD:0020249,Rare respiratory disease +GARD:0019385,GARD:0022517,GARD:0022517,GARD:0020248,Rare respiratory disease +GARD:0019386,GARD:0022524,GARD:0022524,GARD:0019433,Rare neurologic disease +GARD:0019386,GARD:0022524,GARD:0022524,GARD:0007413,Rare neurologic disease +GARD:0019386,GARD:0022524,GARD:0022524,GARD:0005144,Rare neurologic disease +GARD:0019386,GARD:0022524,GARD:0022524,GARD:0007828,Rare neurologic disease +GARD:0019386,GARD:0022524,GARD:0022524,GARD:0018809,Rare neurologic disease +GARD:0019386,GARD:0022524,GARD:0022524,GARD:0008208,Rare neurologic disease +GARD:0019386,GARD:0022524,GARD:0022524,GARD:0019434,Rare neurologic disease +GARD:0019386,GARD:0022524,GARD:0022524,GARD:0007516,Rare neurologic disease +GARD:0019386,GARD:0022524,GARD:0022524,GARD:0018849,Rare neurologic disease +GARD:0019387,GARD:0022524,GARD:0022524,GARD:0005974,Rare neurologic disease +GARD:0019387,GARD:0022524,GARD:0022524,GARD:0020017,Rare neurologic disease +GARD:0019387,GARD:0022524,GARD:0022524,GARD:0010796,Rare neurologic disease +GARD:0019387,GARD:0022524,GARD:0022524,GARD:0010768,Rare neurologic disease +GARD:0019387,GARD:0022524,GARD:0022524,GARD:0021854,Rare neurologic disease +GARD:0019387,GARD:0022524,GARD:0022524,GARD:0012768,Rare neurologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0006036,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0018766,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0000299,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0017776,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0006778,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0017193,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0012923,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0002143,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0017194,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0012474,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0009694,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0012921,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0017993,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0000368,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0017562,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0021950,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0008735,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0001808,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0002153,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0017192,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0009936,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0020095,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0005595,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0012922,Rare odontologic disease +GARD:0019388,GARD:0022526,GARD:0022526,GARD:0000076,Rare odontologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0005575,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0010299,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0007891,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0021641,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0019352,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0021853,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0022367,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0022191,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0020099,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0007893,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0019096,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0021749,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0008570,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0005810,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0022496,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0010296,Rare neurologic disease +GARD:0019389,GARD:0022524,GARD:0022524,GARD:0008310,Rare neurologic disease +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0001567,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0000826,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0001425,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0015013,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0001727,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0008593,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0003396,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0017207,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0006118,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0002754,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0005739,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0016662,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0002907,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0000361,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0006209,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0005835,Rare developmental defect during embryogenesis +GARD:0019390,GARD:0022513,GARD:0022513,GARD:0004148,Rare developmental defect during embryogenesis +GARD:0019391,GARD:0022534,GARD:0022534,GARD:0019351,Rare abdominal surgical disease +GARD:0019391,GARD:0022513,GARD:0022513,GARD:0019351,Rare developmental defect during embryogenesis +GARD:0019391,GARD:0022513,GARD:0022513,GARD:0019384,Rare developmental defect during embryogenesis +GARD:0019391,GARD:0022513,GARD:0022513,GARD:0019095,Rare developmental defect during embryogenesis +GARD:0019391,GARD:0022513,GARD:0022513,GARD:0019383,Rare developmental defect during embryogenesis +GARD:0019391,GARD:0022534,GARD:0022534,GARD:0019095,Rare abdominal surgical disease +GARD:0019391,GARD:0022534,GARD:0022534,GARD:0019383,Rare abdominal surgical disease +GARD:0019391,GARD:0022534,GARD:0022534,GARD:0019384,Rare abdominal surgical disease +GARD:0019392,GARD:0022534,GARD:0022534,GARD:0019861,Rare abdominal surgical disease +GARD:0019392,GARD:0022513,GARD:0022513,GARD:0019862,Rare developmental defect during embryogenesis +GARD:0019392,GARD:0022513,GARD:0022513,GARD:0019861,Rare developmental defect during embryogenesis +GARD:0019392,GARD:0022534,GARD:0022534,GARD:0019862,Rare abdominal surgical disease +GARD:0019393,GARD:0022513,GARD:0022513,GARD:0019863,Rare developmental defect during embryogenesis +GARD:0019393,GARD:0022534,GARD:0022534,GARD:0019864,Rare abdominal surgical disease +GARD:0019393,GARD:0022534,GARD:0022534,GARD:0019863,Rare abdominal surgical disease +GARD:0019393,GARD:0022513,GARD:0022513,GARD:0019864,Rare developmental defect during embryogenesis +GARD:0019394,GARD:0022513,GARD:0022513,GARD:0019865,Rare developmental defect during embryogenesis +GARD:0019394,GARD:0022513,GARD:0022513,GARD:0019866,Rare developmental defect during embryogenesis +GARD:0019394,GARD:0022524,GARD:0022524,GARD:0019866,Rare neurologic disease +GARD:0019394,GARD:0022524,GARD:0022524,GARD:0019865,Rare neurologic disease +GARD:0019395,GARD:0022513,GARD:0022513,GARD:0019867,Rare developmental defect during embryogenesis +GARD:0019395,GARD:0022513,GARD:0022513,GARD:0019868,Rare developmental defect during embryogenesis +GARD:0019396,GARD:0022529,GARD:0022529,GARD:0021670,Rare infertility +GARD:0019396,GARD:0022529,GARD:0022529,GARD:0021673,Rare infertility +GARD:0019396,GARD:0022529,GARD:0022529,GARD:0019446,Rare infertility +GARD:0019397,GARD:0022529,GARD:0022529,GARD:0020188,Rare infertility +GARD:0019397,GARD:0022529,GARD:0022529,GARD:0021684,Rare infertility +GARD:0019397,GARD:0022529,GARD:0022529,GARD:0021678,Rare infertility +GARD:0019397,GARD:0022529,GARD:0022529,GARD:0021683,Rare infertility +GARD:0019397,GARD:0022529,GARD:0022529,GARD:0021718,Rare infertility +GARD:0019398,GARD:0022530,GARD:0022530,GARD:0000602,Rare allergic disease +GARD:0019398,GARD:0022530,GARD:0022530,GARD:0000012,Rare allergic disease +GARD:0019398,GARD:0022530,GARD:0022530,GARD:0001130,Rare allergic disease +GARD:0019399,GARD:0022531,GARD:0022531,GARD:0021555,Rare genetic disease +GARD:0019399,GARD:0022531,GARD:0022531,GARD:0021969,Rare genetic disease +GARD:0019399,GARD:0022531,GARD:0022531,GARD:0019785,Rare genetic disease +GARD:0019399,GARD:0022531,GARD:0022531,GARD:0005847,Rare genetic disease +GARD:0019399,GARD:0022531,GARD:0022531,GARD:0020525,Rare genetic disease +GARD:0019399,GARD:0022531,GARD:0022531,GARD:0019686,Rare genetic disease +GARD:0019399,GARD:0022531,GARD:0022531,GARD:0020532,Rare genetic disease +GARD:0019399,GARD:0022531,GARD:0022531,GARD:0017865,Rare genetic disease +GARD:0019399,GARD:0022531,GARD:0022531,GARD:0020003,Rare genetic disease +GARD:0019400,GARD:0022531,GARD:0022531,GARD:0019229,Rare genetic disease +GARD:0019400,GARD:0022531,GARD:0022531,GARD:0020306,Rare genetic disease +GARD:0019400,GARD:0022531,GARD:0022531,GARD:0019228,Rare genetic disease +GARD:0019400,GARD:0022531,GARD:0022531,GARD:0020010,Rare genetic disease +GARD:0019400,GARD:0022531,GARD:0022531,GARD:0020304,Rare genetic disease +GARD:0019400,GARD:0022531,GARD:0022531,GARD:0019231,Rare genetic disease +GARD:0019400,GARD:0022531,GARD:0022531,GARD:0020293,Rare genetic disease +GARD:0019400,GARD:0022531,GARD:0022531,GARD:0020305,Rare genetic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0021163,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0020458,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0019767,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0018907,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0019407,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0019406,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0019403,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0020250,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0019795,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0021852,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0018797,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0019014,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0019233,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0021145,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0018892,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0020097,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0018878,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0020254,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0020100,Rare neoplastic disease +GARD:0019401,GARD:0022535,GARD:0022535,GARD:0019404,Rare neoplastic disease +GARD:0019402,GARD:0022532,GARD:0020250,GARD:0004520,Rare urogenital disease +GARD:0019402,GARD:0022532,GARD:0020250,GARD:0009404,Rare urogenital disease +GARD:0019402,GARD:0022535,GARD:0020250,GARD:0009404,Rare neoplastic disease +GARD:0019402,GARD:0022535,GARD:0020250,GARD:0009376,Rare neoplastic disease +GARD:0019402,GARD:0022532,GARD:0020250,GARD:0020447,Rare urogenital disease +GARD:0019402,GARD:0022535,GARD:0020250,GARD:0011923,Rare neoplastic disease +GARD:0019402,GARD:0022532,GARD:0020250,GARD:0011923,Rare urogenital disease +GARD:0019402,GARD:0022535,GARD:0020250,GARD:0020447,Rare neoplastic disease +GARD:0019402,GARD:0022532,GARD:0020250,GARD:0009376,Rare urogenital disease +GARD:0019402,GARD:0022535,GARD:0020250,GARD:0004520,Rare neoplastic disease +GARD:0019403,GARD:0022535,GARD:0019401,GARD:0019792,Rare neoplastic disease +GARD:0019403,GARD:0022535,GARD:0019401,GARD:0019848,Rare neoplastic disease +GARD:0019403,GARD:0022535,GARD:0019401,GARD:0021237,Rare neoplastic disease +GARD:0019403,GARD:0022535,GARD:0019401,GARD:0020213,Rare neoplastic disease +GARD:0019403,GARD:0022535,GARD:0019401,GARD:0009364,Rare neoplastic disease +GARD:0019403,GARD:0022535,GARD:0019401,GARD:0021042,Rare neoplastic disease +GARD:0019404,GARD:0022517,GARD:0022517,GARD:0007163,Rare respiratory disease +GARD:0019404,GARD:0022535,GARD:0019401,GARD:0021943,Rare neoplastic disease +GARD:0019404,GARD:0022535,GARD:0019401,GARD:0007163,Rare neoplastic disease +GARD:0019404,GARD:0022517,GARD:0022517,GARD:0021943,Rare respiratory disease +GARD:0019404,GARD:0022535,GARD:0019401,GARD:0019794,Rare neoplastic disease +GARD:0019404,GARD:0022517,GARD:0022517,GARD:0019794,Rare respiratory disease +GARD:0019405,GARD:0022528,GARD:0022528,GARD:0019758,Rare otorhinolaryngologic disease +GARD:0019405,GARD:0022535,GARD:0021163,GARD:0019948,Rare neoplastic disease +GARD:0019405,GARD:0022535,GARD:0021163,GARD:0017928,Rare neoplastic disease +GARD:0019405,GARD:0022535,GARD:0021163,GARD:0021144,Rare neoplastic disease +GARD:0019405,GARD:0022528,GARD:0022528,GARD:0017928,Rare otorhinolaryngologic disease +GARD:0019405,GARD:0022535,GARD:0021163,GARD:0019950,Rare neoplastic disease +GARD:0019405,GARD:0022528,GARD:0022528,GARD:0021144,Rare otorhinolaryngologic disease +GARD:0019405,GARD:0022528,GARD:0022528,GARD:0017908,Rare otorhinolaryngologic disease +GARD:0019405,GARD:0022528,GARD:0022528,GARD:0019759,Rare otorhinolaryngologic disease +GARD:0019405,GARD:0022528,GARD:0022528,GARD:0019948,Rare otorhinolaryngologic disease +GARD:0019405,GARD:0022528,GARD:0022528,GARD:0019943,Rare otorhinolaryngologic disease +GARD:0019405,GARD:0022535,GARD:0021163,GARD:0019943,Rare neoplastic disease +GARD:0019405,GARD:0022535,GARD:0021163,GARD:0000223,Rare neoplastic disease +GARD:0019405,GARD:0022535,GARD:0021163,GARD:0017907,Rare neoplastic disease +GARD:0019405,GARD:0022535,GARD:0021163,GARD:0019759,Rare neoplastic disease +GARD:0019405,GARD:0022528,GARD:0022528,GARD:0007163,Rare otorhinolaryngologic disease +GARD:0019405,GARD:0022535,GARD:0021163,GARD:0017927,Rare neoplastic disease +GARD:0019405,GARD:0022528,GARD:0022528,GARD:0022046,Rare otorhinolaryngologic disease +GARD:0019405,GARD:0022528,GARD:0022528,GARD:0019950,Rare otorhinolaryngologic disease +GARD:0019405,GARD:0022535,GARD:0021163,GARD:0022046,Rare neoplastic disease +GARD:0019405,GARD:0022528,GARD:0022528,GARD:0019949,Rare otorhinolaryngologic disease +GARD:0019405,GARD:0022535,GARD:0021163,GARD:0019949,Rare neoplastic disease +GARD:0019405,GARD:0022535,GARD:0021163,GARD:0017908,Rare neoplastic disease +GARD:0019405,GARD:0022528,GARD:0022528,GARD:0017907,Rare otorhinolaryngologic disease +GARD:0019405,GARD:0022528,GARD:0022528,GARD:0017927,Rare otorhinolaryngologic disease +GARD:0019405,GARD:0022528,GARD:0022528,GARD:0000223,Rare otorhinolaryngologic disease +GARD:0019405,GARD:0022535,GARD:0021163,GARD:0007163,Rare neoplastic disease +GARD:0019405,GARD:0022535,GARD:0021163,GARD:0019758,Rare neoplastic disease +GARD:0019406,GARD:0022535,GARD:0019401,GARD:0020732,Rare neoplastic disease +GARD:0019406,GARD:0022524,GARD:0022524,GARD:0020732,Rare neurologic disease +GARD:0019406,GARD:0022524,GARD:0022524,GARD:0021062,Rare neurologic disease +GARD:0019406,GARD:0022535,GARD:0019401,GARD:0009318,Rare neoplastic disease +GARD:0019406,GARD:0022535,GARD:0019401,GARD:0020737,Rare neoplastic disease +GARD:0019406,GARD:0022524,GARD:0022524,GARD:0008232,Rare neurologic disease +GARD:0019406,GARD:0022535,GARD:0019401,GARD:0010486,Rare neoplastic disease +GARD:0019406,GARD:0022524,GARD:0022524,GARD:0020703,Rare neurologic disease +GARD:0019406,GARD:0022535,GARD:0019401,GARD:0020703,Rare neoplastic disease +GARD:0019406,GARD:0022524,GARD:0022524,GARD:0012697,Rare neurologic disease +GARD:0019406,GARD:0022535,GARD:0019401,GARD:0008232,Rare neoplastic disease +GARD:0019406,GARD:0022524,GARD:0022524,GARD:0020737,Rare neurologic disease +GARD:0019406,GARD:0022524,GARD:0022524,GARD:0010486,Rare neurologic disease +GARD:0019406,GARD:0022535,GARD:0019401,GARD:0012697,Rare neoplastic disease +GARD:0019406,GARD:0022535,GARD:0019401,GARD:0021062,Rare neoplastic disease +GARD:0019406,GARD:0022524,GARD:0022524,GARD:0009318,Rare neurologic disease +GARD:0019407,GARD:0022535,GARD:0019401,GARD:0020205,Rare neoplastic disease +GARD:0019407,GARD:0022514,GARD:0022514,GARD:0004192,Rare gynecologic or obstetric disease +GARD:0019407,GARD:0022514,GARD:0022514,GARD:0020469,Rare gynecologic or obstetric disease +GARD:0019407,GARD:0022514,GARD:0022514,GARD:0020208,Rare gynecologic or obstetric disease +GARD:0019407,GARD:0022535,GARD:0019401,GARD:0004192,Rare neoplastic disease +GARD:0019407,GARD:0022514,GARD:0022514,GARD:0020201,Rare gynecologic or obstetric disease +GARD:0019407,GARD:0022535,GARD:0019401,GARD:0020469,Rare neoplastic disease +GARD:0019407,GARD:0022535,GARD:0019401,GARD:0020748,Rare neoplastic disease +GARD:0019407,GARD:0022514,GARD:0022514,GARD:0020748,Rare gynecologic or obstetric disease +GARD:0019407,GARD:0022514,GARD:0022514,GARD:0020205,Rare gynecologic or obstetric disease +GARD:0019407,GARD:0022535,GARD:0019401,GARD:0020208,Rare neoplastic disease +GARD:0019407,GARD:0022535,GARD:0019401,GARD:0020201,Rare neoplastic disease +GARD:0019408,GARD:0022531,GARD:0021480,GARD:0016585,Rare genetic disease +GARD:0019408,GARD:0022531,GARD:0021480,GARD:0018747,Rare genetic disease +GARD:0019408,GARD:0022514,GARD:0021477,GARD:0016585,Rare gynecologic or obstetric disease +GARD:0019408,GARD:0022514,GARD:0021477,GARD:0005671,Rare gynecologic or obstetric disease +GARD:0019408,GARD:0022531,GARD:0021480,GARD:0005068,Rare genetic disease +GARD:0019408,GARD:0022514,GARD:0021477,GARD:0021469,Rare gynecologic or obstetric disease +GARD:0019408,GARD:0022531,GARD:0021480,GARD:0005671,Rare genetic disease +GARD:0019408,GARD:0022514,GARD:0021477,GARD:0005068,Rare gynecologic or obstetric disease +GARD:0019408,GARD:0022531,GARD:0021480,GARD:0017760,Rare genetic disease +GARD:0019408,GARD:0022514,GARD:0021477,GARD:0018747,Rare gynecologic or obstetric disease +GARD:0019408,GARD:0022531,GARD:0021480,GARD:0017211,Rare genetic disease +GARD:0019408,GARD:0022531,GARD:0021480,GARD:0021469,Rare genetic disease +GARD:0019408,GARD:0022514,GARD:0021477,GARD:0017211,Rare gynecologic or obstetric disease +GARD:0019408,GARD:0022514,GARD:0021477,GARD:0017760,Rare gynecologic or obstetric disease +GARD:0019409,GARD:0022514,GARD:0021477,GARD:0019156,Rare gynecologic or obstetric disease +GARD:0019409,GARD:0022532,GARD:0018783,GARD:0019156,Rare urogenital disease +GARD:0019409,GARD:0022532,GARD:0018783,GARD:0021464,Rare urogenital disease +GARD:0019409,GARD:0022532,GARD:0018783,GARD:0019148,Rare urogenital disease +GARD:0019409,GARD:0022514,GARD:0021477,GARD:0019148,Rare gynecologic or obstetric disease +GARD:0019409,GARD:0022513,GARD:0018783,GARD:0019148,Rare developmental defect during embryogenesis +GARD:0019409,GARD:0022513,GARD:0018783,GARD:0019156,Rare developmental defect during embryogenesis +GARD:0019409,GARD:0022521,GARD:0018783,GARD:0019148,Rare endocrine disease +GARD:0019409,GARD:0022521,GARD:0018783,GARD:0021464,Rare endocrine disease +GARD:0019409,GARD:0022513,GARD:0018783,GARD:0021464,Rare developmental defect during embryogenesis +GARD:0019409,GARD:0022521,GARD:0018783,GARD:0019156,Rare endocrine disease +GARD:0019409,GARD:0022514,GARD:0021477,GARD:0021464,Rare gynecologic or obstetric disease +GARD:0019410,GARD:0022531,GARD:0021471,GARD:0005680,Rare genetic disease +GARD:0019410,GARD:0022514,GARD:0021478,GARD:0005680,Rare gynecologic or obstetric disease +GARD:0019410,GARD:0022536,GARD:0021471,GARD:0005680,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019410,GARD:0022521,GARD:0021471,GARD:0005680,Rare endocrine disease +GARD:0019410,GARD:0022513,GARD:0021471,GARD:0005680,Rare developmental defect during embryogenesis +GARD:0019410,GARD:0022531,GARD:0021478,GARD:0005680,Rare genetic disease +GARD:0019410,GARD:0022532,GARD:0021471,GARD:0005680,Rare urogenital disease +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0002460,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0005528,Rare urogenital disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0017034,Rare genetic disease +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0017034,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0003086,Rare endocrine disease +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0016565,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0004550,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0003086,Rare urogenital disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0003086,Rare genetic disease +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0005528,Rare endocrine disease +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0005864,Rare urogenital disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0005576,Rare genetic disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0002460,Rare genetic disease +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0012491,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0017792,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0016839,Rare endocrine disease +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0005576,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0016565,Rare genetic disease +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0017792,Rare urogenital disease +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0017034,Rare endocrine disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0018764,Rare genetic disease +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0016565,Rare endocrine disease +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0005576,Rare endocrine disease +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0013108,Rare endocrine disease +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0002375,Rare urogenital disease +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0012491,Rare urogenital disease +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0003432,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0002541,Rare endocrine disease +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0016839,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0018732,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0018764,Rare urogenital disease +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0012491,Rare endocrine disease +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0012382,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0017034,Rare urogenital disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0003432,Rare genetic disease +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0013108,Rare urogenital disease +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0010027,Rare endocrine disease +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0003432,Rare urogenital disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0005528,Rare genetic disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0005864,Rare genetic disease +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0016839,Rare urogenital disease +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0018732,Rare urogenital disease +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0018732,Rare endocrine disease +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0002375,Rare endocrine disease +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0004550,Rare urogenital disease +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0002541,Rare urogenital disease +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0012382,Rare endocrine disease +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0016565,Rare urogenital disease +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0005576,Rare urogenital disease +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0018764,Rare endocrine disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0010027,Rare genetic disease +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0013108,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0012491,Rare genetic disease +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0010027,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0005864,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0002375,Rare genetic disease +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0002460,Rare endocrine disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0018732,Rare genetic disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0004550,Rare genetic disease +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0010027,Rare urogenital disease +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0017792,Rare endocrine disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0012382,Rare genetic disease +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0012382,Rare urogenital disease +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0018764,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0005864,Rare endocrine disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0002541,Rare genetic disease +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0003086,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0002375,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0004550,Rare endocrine disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0017792,Rare genetic disease +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0016839,Rare genetic disease +GARD:0019411,GARD:0022521,GARD:0008538,GARD:0003432,Rare endocrine disease +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0002541,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022532,GARD:0008538,GARD:0002460,Rare urogenital disease +GARD:0019411,GARD:0022513,GARD:0008538,GARD:0005528,Rare developmental defect during embryogenesis +GARD:0019411,GARD:0022531,GARD:0021483,GARD:0013108,Rare genetic disease +GARD:0019412,GARD:0022524,GARD:0018718,GARD:0022075,Rare neurologic disease +GARD:0019412,GARD:0022531,GARD:0018718,GARD:0001199,Rare genetic disease +GARD:0019412,GARD:0022531,GARD:0018718,GARD:0001998,Rare genetic disease +GARD:0019412,GARD:0022524,GARD:0018718,GARD:0009977,Rare neurologic disease +GARD:0019412,GARD:0022524,GARD:0018718,GARD:0016836,Rare neurologic disease +GARD:0019412,GARD:0022531,GARD:0018718,GARD:0016836,Rare genetic disease +GARD:0019412,GARD:0022524,GARD:0018718,GARD:0019931,Rare neurologic disease +GARD:0019412,GARD:0022531,GARD:0018718,GARD:0009977,Rare genetic disease +GARD:0019412,GARD:0022524,GARD:0018718,GARD:0001199,Rare neurologic disease +GARD:0019412,GARD:0022531,GARD:0018718,GARD:0022075,Rare genetic disease +GARD:0019412,GARD:0022531,GARD:0018718,GARD:0019931,Rare genetic disease +GARD:0019412,GARD:0022531,GARD:0018718,GARD:0017786,Rare genetic disease +GARD:0019412,GARD:0022524,GARD:0018718,GARD:0017786,Rare neurologic disease +GARD:0019412,GARD:0022524,GARD:0018718,GARD:0001998,Rare neurologic disease 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disease +GARD:0019417,GARD:0022513,GARD:0018874,GARD:0019418,Rare developmental defect during embryogenesis +GARD:0019417,GARD:0022531,GARD:0018874,GARD:0019826,Rare genetic disease +GARD:0019417,GARD:0022513,GARD:0018874,GARD:0019423,Rare developmental defect during embryogenesis +GARD:0019417,GARD:0022531,GARD:0018874,GARD:0020906,Rare genetic disease +GARD:0019417,GARD:0022513,GARD:0018874,GARD:0021542,Rare developmental defect during embryogenesis +GARD:0019417,GARD:0022513,GARD:0018874,GARD:0020906,Rare developmental defect during embryogenesis +GARD:0019417,GARD:0022531,GARD:0018874,GARD:0021542,Rare genetic disease +GARD:0019418,GARD:0022513,GARD:0019417,GARD:0019420,Rare developmental defect during embryogenesis +GARD:0019418,GARD:0022531,GARD:0019417,GARD:0019419,Rare genetic disease +GARD:0019418,GARD:0022531,GARD:0019417,GARD:0019420,Rare genetic disease +GARD:0019418,GARD:0022513,GARD:0019417,GARD:0019419,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0007341,Rare genetic disease +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0010247,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0001327,Rare genetic disease +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0019300,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0019302,Rare genetic disease +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0005304,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0018744,Rare genetic disease +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0005354,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0005342,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0018736,Rare genetic disease +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0005331,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0006321,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0019301,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0010247,Rare genetic disease +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0005359,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0018736,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0000043,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0006085,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0005331,Rare genetic disease +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0019300,Rare genetic disease +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0018744,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0007341,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0006085,Rare genetic disease +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0019302,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0005354,Rare genetic disease +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0019301,Rare genetic disease +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0005313,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0001327,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0006321,Rare genetic disease +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0005317,Rare genetic disease +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0005313,Rare genetic disease +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0005342,Rare genetic disease +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0005317,Rare developmental defect during embryogenesis +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0005359,Rare genetic disease +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0018741,Rare genetic disease +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0005304,Rare genetic disease +GARD:0019419,GARD:0022531,GARD:0019418,GARD:0000043,Rare genetic disease +GARD:0019419,GARD:0022513,GARD:0019418,GARD:0018741,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020842,Rare genetic disease +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020883,Rare genetic disease +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020843,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020855,Rare genetic disease +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020856,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020883,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020854,Rare genetic disease +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020885,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020858,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020884,Rare genetic disease +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020853,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020851,Rare genetic disease +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020847,Rare genetic disease +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020891,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020848,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020854,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020842,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020884,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020850,Rare genetic disease +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020857,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020851,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020844,Rare genetic disease +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020843,Rare genetic disease +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020852,Rare genetic disease +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020891,Rare genetic disease +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020846,Rare genetic disease +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020885,Rare genetic disease +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020852,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020845,Rare genetic disease +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0012480,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020853,Rare genetic disease +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020849,Rare genetic disease +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020855,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020858,Rare genetic disease +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020857,Rare genetic disease +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020845,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020849,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020846,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020848,Rare genetic disease +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020850,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020847,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0012480,Rare genetic disease +GARD:0019420,GARD:0022513,GARD:0019418,GARD:0020844,Rare developmental defect during embryogenesis +GARD:0019420,GARD:0022531,GARD:0019418,GARD:0020856,Rare genetic disease +GARD:0019421,GARD:0022513,GARD:0019826,GARD:0019324,Rare developmental defect during embryogenesis +GARD:0019421,GARD:0022513,GARD:0019826,GARD:0010860,Rare developmental defect during embryogenesis +GARD:0019421,GARD:0022531,GARD:0019826,GARD:0019324,Rare genetic disease +GARD:0019421,GARD:0022531,GARD:0019826,GARD:0010860,Rare genetic disease +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020793,Rare genetic disease +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020841,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020794,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020792,Rare genetic disease +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0021115,Rare genetic disease +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020805,Rare genetic disease +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020803,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020841,Rare genetic disease +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020833,Rare genetic disease +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020797,Rare genetic disease +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020796,Rare genetic disease +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020804,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020795,Rare genetic disease +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020790,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020801,Rare genetic disease +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020792,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020804,Rare genetic disease +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020802,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020794,Rare genetic disease +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020799,Rare genetic disease +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020805,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020798,Rare genetic disease +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020832,Rare genetic disease +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020797,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020833,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020795,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020791,Rare genetic disease +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020796,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020802,Rare genetic disease +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020840,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020791,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020799,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020834,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020789,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020790,Rare genetic disease +GARD:0019422,GARD:0022531,GARD:0019826,GARD:0020834,Rare genetic disease +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0020801,Rare developmental defect during embryogenesis +GARD:0019422,GARD:0022513,GARD:0019826,GARD:0021115,Rare developmental defect 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+GARD:0019429,GARD:0022513,GARD:0019428,GARD:0020785,Rare developmental defect during embryogenesis +GARD:0019429,GARD:0022513,GARD:0019428,GARD:0016574,Rare developmental defect during embryogenesis +GARD:0019429,GARD:0022531,GARD:0019428,GARD:0020785,Rare genetic disease +GARD:0019430,GARD:0022531,GARD:0019428,GARD:0020916,Rare genetic disease +GARD:0019430,GARD:0022531,GARD:0019428,GARD:0020918,Rare genetic disease +GARD:0019430,GARD:0022513,GARD:0019428,GARD:0020916,Rare developmental defect during embryogenesis +GARD:0019430,GARD:0022513,GARD:0019428,GARD:0019345,Rare developmental defect during embryogenesis +GARD:0019430,GARD:0022531,GARD:0019428,GARD:0019345,Rare genetic disease +GARD:0019430,GARD:0022513,GARD:0019428,GARD:0020911,Rare developmental defect during embryogenesis +GARD:0019430,GARD:0022513,GARD:0019428,GARD:0020918,Rare developmental defect during embryogenesis +GARD:0019430,GARD:0022531,GARD:0019428,GARD:0020911,Rare genetic disease +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0007830,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0006482,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0004768,Rare genetic disease +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0000676,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0010714,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0000372,Rare genetic disease +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0003122,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0006482,Rare genetic disease +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0007378,Rare genetic disease +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0012800,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0000676,Rare genetic disease +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0010291,Rare genetic disease +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0006958,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0006457,Rare genetic disease +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0007866,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0007251,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0007166,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0001100,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0007251,Rare genetic disease +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0004311,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0021051,Rare genetic disease +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0003856,Rare genetic disease +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0004311,Rare genetic disease +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0021051,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0001100,Rare genetic disease +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0010905,Rare genetic disease +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0006457,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0006958,Rare genetic disease +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0003122,Rare genetic disease +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0007166,Rare genetic disease +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0007706,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0003856,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0007378,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0007866,Rare genetic disease +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0007830,Rare genetic disease +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0007706,Rare genetic disease +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0010291,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0006626,Rare genetic disease +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0012800,Rare genetic disease +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0007855,Rare genetic disease +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0004768,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0004312,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0010714,Rare genetic disease +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0006626,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022531,GARD:0020290,GARD:0004312,Rare genetic disease +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0000372,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0007855,Rare developmental defect during embryogenesis +GARD:0019431,GARD:0022513,GARD:0022513,GARD:0010905,Rare developmental defect during embryogenesis +GARD:0019432,GARD:0022531,GARD:0021630,GARD:0021628,Rare genetic disease +GARD:0019432,GARD:0022524,GARD:0018882,GARD:0020340,Rare neurologic disease +GARD:0019432,GARD:0022531,GARD:0021630,GARD:0020340,Rare genetic disease +GARD:0019432,GARD:0022524,GARD:0018882,GARD:0021628,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0006797,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0006649,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0007888,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0005216,Rare neurologic disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0007468,Rare infectious disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0009959,Rare infectious disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0010925,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0007468,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0017257,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0019689,Rare neurologic disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0006840,Rare infectious disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0019043,Rare infectious disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0006649,Rare infectious disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0010821,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0006797,Rare neurologic disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0010925,Rare infectious disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0009959,Rare neurologic disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0010821,Rare infectious disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0019042,Rare infectious disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0021448,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0019040,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0019041,Rare neurologic disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0005216,Rare infectious disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0007468,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0019043,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0006649,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0019041,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0009959,Rare neurologic disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0017257,Rare infectious disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0005216,Rare neurologic disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0007888,Rare infectious disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0019043,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0006840,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0019040,Rare neurologic disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0019689,Rare infectious disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0017257,Rare neurologic disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0021448,Rare infectious disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0019040,Rare infectious disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0019042,Rare neurologic disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0019041,Rare infectious disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0007888,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0006840,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0021448,Rare neurologic disease +GARD:0019433,GARD:0022509,GARD:0020045,GARD:0006797,Rare infectious disease +GARD:0019433,GARD:0022524,GARD:0019386,GARD:0010925,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0019689,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0019042,Rare neurologic disease +GARD:0019433,GARD:0022524,GARD:0019357,GARD:0010821,Rare neurologic disease +GARD:0019434,GARD:0022524,GARD:0019386,GARD:0019043,Rare neurologic disease +GARD:0019434,GARD:0022524,GARD:0019386,GARD:0006332,Rare neurologic disease +GARD:0019434,GARD:0022524,GARD:0019357,GARD:0019043,Rare neurologic disease +GARD:0019434,GARD:0022524,GARD:0019386,GARD:0018752,Rare neurologic disease +GARD:0019434,GARD:0022524,GARD:0019357,GARD:0018752,Rare neurologic disease +GARD:0019434,GARD:0022524,GARD:0019386,GARD:0007708,Rare neurologic disease +GARD:0019434,GARD:0022524,GARD:0019357,GARD:0006332,Rare neurologic disease +GARD:0019434,GARD:0022524,GARD:0019357,GARD:0007708,Rare neurologic disease +GARD:0019435,GARD:0022531,GARD:0020083,GARD:0017532,Rare genetic disease +GARD:0019435,GARD:0022531,GARD:0020083,GARD:0017103,Rare genetic disease +GARD:0019435,GARD:0022524,GARD:0020083,GARD:0012919,Rare neurologic disease +GARD:0019435,GARD:0022531,GARD:0020083,GARD:0012919,Rare genetic disease +GARD:0019435,GARD:0022524,GARD:0020083,GARD:0017532,Rare neurologic disease +GARD:0019435,GARD:0022524,GARD:0020083,GARD:0001519,Rare neurologic disease +GARD:0019435,GARD:0022524,GARD:0020083,GARD:0016581,Rare neurologic disease +GARD:0019435,GARD:0022531,GARD:0020083,GARD:0001519,Rare genetic disease +GARD:0019435,GARD:0022531,GARD:0020083,GARD:0016581,Rare genetic disease +GARD:0019435,GARD:0022531,GARD:0020083,GARD:0009255,Rare genetic disease +GARD:0019435,GARD:0022524,GARD:0020083,GARD:0017103,Rare neurologic disease +GARD:0019435,GARD:0022524,GARD:0020083,GARD:0015028,Rare neurologic disease +GARD:0019435,GARD:0022531,GARD:0020083,GARD:0015028,Rare genetic disease +GARD:0019435,GARD:0022524,GARD:0020083,GARD:0018860,Rare neurologic disease +GARD:0019435,GARD:0022524,GARD:0020083,GARD:0009255,Rare neurologic disease +GARD:0019436,GARD:0022524,GARD:0020083,GARD:0017522,Rare neurologic disease +GARD:0019436,GARD:0022524,GARD:0020083,GARD:0022232,Rare neurologic disease +GARD:0019436,GARD:0022531,GARD:0020083,GARD:0019088,Rare genetic disease +GARD:0019436,GARD:0022524,GARD:0020083,GARD:0017521,Rare neurologic disease +GARD:0019436,GARD:0022531,GARD:0020083,GARD:0022232,Rare genetic disease +GARD:0019436,GARD:0022524,GARD:0020083,GARD:0021619,Rare neurologic disease +GARD:0019436,GARD:0022531,GARD:0020083,GARD:0015028,Rare genetic disease +GARD:0019436,GARD:0022531,GARD:0020083,GARD:0021619,Rare genetic disease +GARD:0019436,GARD:0022531,GARD:0020083,GARD:0017522,Rare genetic disease +GARD:0019436,GARD:0022524,GARD:0020083,GARD:0018641,Rare neurologic disease +GARD:0019436,GARD:0022524,GARD:0020083,GARD:0020076,Rare neurologic disease +GARD:0019436,GARD:0022531,GARD:0020083,GARD:0010430,Rare genetic disease +GARD:0019436,GARD:0022524,GARD:0020083,GARD:0002995,Rare neurologic disease +GARD:0019436,GARD:0022524,GARD:0020083,GARD:0019086,Rare neurologic disease +GARD:0019436,GARD:0022531,GARD:0020083,GARD:0019086,Rare genetic disease +GARD:0019436,GARD:0022524,GARD:0020083,GARD:0007887,Rare neurologic disease +GARD:0019436,GARD:0022524,GARD:0020083,GARD:0019085,Rare neurologic disease +GARD:0019436,GARD:0022524,GARD:0020083,GARD:0015028,Rare neurologic disease +GARD:0019436,GARD:0022531,GARD:0020083,GARD:0018641,Rare genetic disease +GARD:0019436,GARD:0022531,GARD:0020083,GARD:0017521,Rare genetic disease +GARD:0019436,GARD:0022531,GARD:0020083,GARD:0020076,Rare genetic disease +GARD:0019436,GARD:0022524,GARD:0020083,GARD:0019088,Rare neurologic disease +GARD:0019436,GARD:0022524,GARD:0020083,GARD:0010430,Rare neurologic disease +GARD:0019436,GARD:0022531,GARD:0020083,GARD:0007887,Rare genetic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0020050,Rare neurologic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0009912,Rare neurologic disease +GARD:0019437,GARD:0022531,GARD:0020083,GARD:0009912,Rare genetic disease +GARD:0019437,GARD:0022531,GARD:0020083,GARD:0002169,Rare genetic disease +GARD:0019437,GARD:0022531,GARD:0020083,GARD:0021134,Rare genetic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0019916,Rare neurologic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0017002,Rare neurologic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0007140,Rare neurologic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0001513,Rare neurologic disease +GARD:0019437,GARD:0022531,GARD:0020083,GARD:0017002,Rare genetic disease +GARD:0019437,GARD:0022531,GARD:0020083,GARD:0019087,Rare genetic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0002169,Rare neurologic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0006855,Rare neurologic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0019915,Rare neurologic disease +GARD:0019437,GARD:0022531,GARD:0020083,GARD:0020050,Rare genetic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0017003,Rare neurologic disease +GARD:0019437,GARD:0022531,GARD:0020083,GARD:0007140,Rare genetic disease +GARD:0019437,GARD:0022531,GARD:0020083,GARD:0017003,Rare genetic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0002173,Rare neurologic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0021134,Rare neurologic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0002170,Rare neurologic disease +GARD:0019437,GARD:0022531,GARD:0020083,GARD:0006855,Rare genetic disease +GARD:0019437,GARD:0022531,GARD:0020083,GARD:0002170,Rare genetic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0021553,Rare neurologic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0019087,Rare neurologic disease +GARD:0019437,GARD:0022531,GARD:0020083,GARD:0001513,Rare genetic disease +GARD:0019437,GARD:0022524,GARD:0020083,GARD:0018688,Rare neurologic disease +GARD:0019437,GARD:0022531,GARD:0020083,GARD:0002173,Rare genetic disease +GARD:0019437,GARD:0022531,GARD:0020083,GARD:0017028,Rare genetic disease +GARD:0019438,GARD:0022524,GARD:0020083,GARD:0018688,Rare neurologic disease +GARD:0019438,GARD:0022531,GARD:0020083,GARD:0016758,Rare genetic disease +GARD:0019438,GARD:0022531,GARD:0020083,GARD:0002173,Rare genetic disease +GARD:0019438,GARD:0022524,GARD:0020083,GARD:0007140,Rare neurologic disease +GARD:0019438,GARD:0022524,GARD:0020083,GARD:0016758,Rare neurologic disease +GARD:0019438,GARD:0022524,GARD:0020083,GARD:0002173,Rare neurologic disease +GARD:0019438,GARD:0022524,GARD:0020083,GARD:0018728,Rare neurologic disease +GARD:0019438,GARD:0022524,GARD:0020083,GARD:0012244,Rare neurologic disease +GARD:0019438,GARD:0022531,GARD:0020083,GARD:0007140,Rare genetic disease +GARD:0019439,GARD:0022531,GARD:0018935,GARD:0017631,Rare genetic disease +GARD:0019439,GARD:0022531,GARD:0018935,GARD:0021486,Rare genetic disease +GARD:0019439,GARD:0022531,GARD:0018935,GARD:0013015,Rare genetic disease +GARD:0019439,GARD:0022521,GARD:0018935,GARD:0021580,Rare endocrine disease +GARD:0019439,GARD:0022521,GARD:0018935,GARD:0017631,Rare endocrine disease +GARD:0019439,GARD:0022531,GARD:0018935,GARD:0021580,Rare genetic disease +GARD:0019439,GARD:0022521,GARD:0018935,GARD:0020169,Rare endocrine disease +GARD:0019439,GARD:0022521,GARD:0018935,GARD:0021486,Rare endocrine disease +GARD:0019439,GARD:0022531,GARD:0018935,GARD:0020169,Rare genetic disease +GARD:0019439,GARD:0022521,GARD:0018935,GARD:0013015,Rare endocrine disease +GARD:0019440,GARD:0022522,GARD:0020131,GARD:0019074,Rare hematologic disease +GARD:0019440,GARD:0022535,GARD:0020131,GARD:0007108,Rare neoplastic disease +GARD:0019440,GARD:0022522,GARD:0020131,GARD:0009373,Rare hematologic disease +GARD:0019440,GARD:0022535,GARD:0020131,GARD:0019073,Rare neoplastic disease +GARD:0019440,GARD:0022522,GARD:0020131,GARD:0007411,Rare hematologic disease +GARD:0019440,GARD:0022535,GARD:0020131,GARD:0005797,Rare neoplastic disease +GARD:0019440,GARD:0022535,GARD:0020131,GARD:0013446,Rare neoplastic disease +GARD:0019440,GARD:0022522,GARD:0020131,GARD:0019073,Rare hematologic disease +GARD:0019440,GARD:0022536,GARD:0020131,GARD:0005797,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019440,GARD:0022535,GARD:0020131,GARD:0009373,Rare neoplastic disease +GARD:0019440,GARD:0022535,GARD:0020131,GARD:0019074,Rare neoplastic disease +GARD:0019440,GARD:0022536,GARD:0020131,GARD:0019074,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019440,GARD:0022536,GARD:0020131,GARD:0013446,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019440,GARD:0022536,GARD:0020131,GARD:0007411,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019440,GARD:0022536,GARD:0020131,GARD:0009373,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019440,GARD:0022536,GARD:0020131,GARD:0007108,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019440,GARD:0022536,GARD:0020131,GARD:0019073,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019440,GARD:0022522,GARD:0020131,GARD:0013446,Rare hematologic disease +GARD:0019440,GARD:0022535,GARD:0020131,GARD:0007411,Rare neoplastic disease +GARD:0019440,GARD:0022522,GARD:0020131,GARD:0007108,Rare hematologic disease +GARD:0019440,GARD:0022522,GARD:0020131,GARD:0005797,Rare hematologic disease +GARD:0019441,GARD:0022522,GARD:0020131,GARD:0019442,Rare hematologic disease +GARD:0019441,GARD:0022536,GARD:0020131,GARD:0008317,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019441,GARD:0022522,GARD:0020131,GARD:0008317,Rare hematologic disease +GARD:0019441,GARD:0022536,GARD:0020131,GARD:0019442,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019441,GARD:0022535,GARD:0020131,GARD:0019442,Rare neoplastic disease +GARD:0019441,GARD:0022535,GARD:0020131,GARD:0008317,Rare neoplastic disease +GARD:0019442,GARD:0022536,GARD:0019441,GARD:0019080,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019442,GARD:0022522,GARD:0019441,GARD:0019080,Rare hematologic disease +GARD:0019442,GARD:0022535,GARD:0019441,GARD:0019080,Rare neoplastic disease +GARD:0019443,GARD:0022522,GARD:0020131,GARD:0019083,Rare hematologic disease +GARD:0019443,GARD:0022536,GARD:0020131,GARD:0009553,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019443,GARD:0022522,GARD:0020131,GARD:0009553,Rare hematologic disease +GARD:0019443,GARD:0022535,GARD:0020131,GARD:0009553,Rare neoplastic disease +GARD:0019443,GARD:0022522,GARD:0020131,GARD:0016855,Rare hematologic disease +GARD:0019443,GARD:0022536,GARD:0020131,GARD:0019083,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019443,GARD:0022535,GARD:0020131,GARD:0019083,Rare neoplastic disease +GARD:0019443,GARD:0022536,GARD:0020131,GARD:0016855,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019443,GARD:0022535,GARD:0020131,GARD:0016855,Rare neoplastic disease +GARD:0019444,GARD:0022531,GARD:0022531,GARD:0021241,Rare genetic disease +GARD:0019444,GARD:0022531,GARD:0022531,GARD:0021242,Rare genetic disease +GARD:0019444,GARD:0022531,GARD:0022531,GARD:0021240,Rare genetic disease +GARD:0019444,GARD:0022531,GARD:0022531,GARD:0021243,Rare genetic disease +GARD:0019445,GARD:0022529,GARD:0021673,GARD:0005676,Rare infertility +GARD:0019445,GARD:0022531,GARD:0021673,GARD:0017211,Rare genetic disease +GARD:0019445,GARD:0022529,GARD:0021673,GARD:0018747,Rare infertility +GARD:0019445,GARD:0022529,GARD:0021673,GARD:0011985,Rare infertility +GARD:0019445,GARD:0022531,GARD:0021673,GARD:0016552,Rare genetic disease +GARD:0019445,GARD:0022531,GARD:0021673,GARD:0000399,Rare genetic disease +GARD:0019445,GARD:0022529,GARD:0021673,GARD:0000399,Rare infertility +GARD:0019445,GARD:0022531,GARD:0021673,GARD:0018747,Rare genetic disease +GARD:0019445,GARD:0022531,GARD:0021673,GARD:0011985,Rare genetic disease +GARD:0019445,GARD:0022531,GARD:0021673,GARD:0005819,Rare genetic disease +GARD:0019445,GARD:0022529,GARD:0021673,GARD:0005679,Rare infertility +GARD:0019445,GARD:0022529,GARD:0021673,GARD:0017211,Rare infertility +GARD:0019445,GARD:0022531,GARD:0021673,GARD:0005676,Rare genetic disease +GARD:0019445,GARD:0022531,GARD:0021673,GARD:0005679,Rare genetic disease +GARD:0019445,GARD:0022529,GARD:0021673,GARD:0005819,Rare infertility +GARD:0019445,GARD:0022529,GARD:0021673,GARD:0016552,Rare infertility +GARD:0019446,GARD:0022529,GARD:0019396,GARD:0005461,Rare infertility +GARD:0019446,GARD:0022529,GARD:0019396,GARD:0021677,Rare infertility +GARD:0019447,GARD:0022510,GARD:0021290,GARD:0005186,Rare skin disease +GARD:0019447,GARD:0022531,GARD:0021290,GARD:0017595,Rare genetic disease +GARD:0019447,GARD:0022510,GARD:0021290,GARD:0001862,Rare skin disease +GARD:0019447,GARD:0022510,GARD:0021290,GARD:0002826,Rare skin disease +GARD:0019447,GARD:0022510,GARD:0021290,GARD:0017595,Rare skin disease +GARD:0019447,GARD:0022531,GARD:0021290,GARD:0001862,Rare genetic disease +GARD:0019447,GARD:0022531,GARD:0021290,GARD:0002826,Rare genetic disease +GARD:0019447,GARD:0022531,GARD:0021290,GARD:0005186,Rare genetic disease +GARD:0019447,GARD:0022510,GARD:0021290,GARD:0003096,Rare skin disease +GARD:0019447,GARD:0022531,GARD:0021290,GARD:0003096,Rare genetic disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0021292,Rare skin disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0019089,Rare genetic disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0003113,Rare genetic disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0000604,Rare skin disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0003094,Rare genetic disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0017525,Rare genetic disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0018639,Rare genetic disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0003125,Rare genetic disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0003094,Rare skin disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0002056,Rare skin disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0008517,Rare skin disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0018639,Rare skin disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0002056,Rare genetic disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0017525,Rare skin disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0003125,Rare skin disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0003113,Rare skin disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0008550,Rare skin disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0017977,Rare genetic disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0008550,Rare genetic disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0016766,Rare genetic disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0010163,Rare genetic disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0017977,Rare skin disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0003912,Rare skin disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0008517,Rare genetic disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0010163,Rare skin disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0016766,Rare skin disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0021292,Rare genetic disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0000604,Rare genetic disease +GARD:0019448,GARD:0022531,GARD:0021291,GARD:0003912,Rare genetic disease +GARD:0019448,GARD:0022510,GARD:0021291,GARD:0019089,Rare skin disease +GARD:0019449,GARD:0022510,GARD:0021296,GARD:0010753,Rare skin disease +GARD:0019449,GARD:0022510,GARD:0021296,GARD:0003102,Rare skin disease +GARD:0019449,GARD:0022510,GARD:0021296,GARD:0017384,Rare skin disease +GARD:0019449,GARD:0022531,GARD:0021296,GARD:0003102,Rare genetic disease +GARD:0019449,GARD:0022510,GARD:0021296,GARD:0003098,Rare skin disease +GARD:0019449,GARD:0022531,GARD:0021296,GARD:0010753,Rare genetic disease +GARD:0019449,GARD:0022531,GARD:0021296,GARD:0017384,Rare genetic disease +GARD:0019449,GARD:0022531,GARD:0021296,GARD:0003098,Rare genetic disease +GARD:0019450,GARD:0022531,GARD:0021290,GARD:0000092,Rare genetic disease +GARD:0019450,GARD:0022510,GARD:0021290,GARD:0000092,Rare skin disease +GARD:0019450,GARD:0022531,GARD:0021290,GARD:0016967,Rare genetic disease +GARD:0019450,GARD:0022531,GARD:0021290,GARD:0016767,Rare genetic disease +GARD:0019450,GARD:0022510,GARD:0021290,GARD:0016767,Rare skin disease +GARD:0019450,GARD:0022510,GARD:0021290,GARD:0016967,Rare skin disease +GARD:0019451,GARD:0022531,GARD:0021296,GARD:0017697,Rare genetic disease +GARD:0019451,GARD:0022531,GARD:0021296,GARD:0017703,Rare genetic disease +GARD:0019451,GARD:0022531,GARD:0021296,GARD:0003105,Rare genetic disease +GARD:0019451,GARD:0022510,GARD:0021296,GARD:0017697,Rare skin disease +GARD:0019451,GARD:0022510,GARD:0021296,GARD:0005595,Rare skin disease +GARD:0019451,GARD:0022531,GARD:0021296,GARD:0005595,Rare genetic disease +GARD:0019451,GARD:0022510,GARD:0021296,GARD:0017703,Rare skin disease +GARD:0019451,GARD:0022510,GARD:0021296,GARD:0003105,Rare skin disease +GARD:0019452,GARD:0022531,GARD:0020669,GARD:0009595,Rare genetic disease +GARD:0019452,GARD:0022522,GARD:0020669,GARD:0012360,Rare hematologic disease +GARD:0019452,GARD:0022522,GARD:0020669,GARD:0017364,Rare hematologic disease +GARD:0019452,GARD:0022531,GARD:0020669,GARD:0017364,Rare genetic disease +GARD:0019452,GARD:0022531,GARD:0020669,GARD:0012360,Rare genetic disease +GARD:0019452,GARD:0022522,GARD:0020669,GARD:0010957,Rare hematologic disease +GARD:0019452,GARD:0022522,GARD:0020669,GARD:0009499,Rare hematologic disease +GARD:0019452,GARD:0022522,GARD:0020669,GARD:0009595,Rare hematologic disease +GARD:0019452,GARD:0022531,GARD:0020669,GARD:0009499,Rare genetic disease +GARD:0019452,GARD:0022531,GARD:0020669,GARD:0010957,Rare genetic disease +GARD:0019453,GARD:0022531,GARD:0020318,GARD:0009456,Rare genetic disease +GARD:0019453,GARD:0022531,GARD:0020318,GARD:0009210,Rare genetic disease +GARD:0019453,GARD:0022522,GARD:0018714,GARD:0009456,Rare hematologic disease +GARD:0019453,GARD:0022522,GARD:0018714,GARD:0017364,Rare hematologic disease +GARD:0019453,GARD:0022522,GARD:0018714,GARD:0017586,Rare hematologic disease +GARD:0019453,GARD:0022531,GARD:0020318,GARD:0017364,Rare genetic disease +GARD:0019453,GARD:0022522,GARD:0018714,GARD:0009210,Rare hematologic disease +GARD:0019453,GARD:0022531,GARD:0020318,GARD:0007343,Rare genetic disease +GARD:0019453,GARD:0022522,GARD:0018714,GARD:0003885,Rare hematologic disease +GARD:0019453,GARD:0022522,GARD:0018714,GARD:0017235,Rare hematologic disease +GARD:0019453,GARD:0022531,GARD:0020318,GARD:0017240,Rare genetic disease +GARD:0019453,GARD:0022531,GARD:0020318,GARD:0003885,Rare genetic disease +GARD:0019453,GARD:0022522,GARD:0018714,GARD:0007343,Rare hematologic disease +GARD:0019453,GARD:0022531,GARD:0020318,GARD:0017586,Rare genetic disease +GARD:0019453,GARD:0022522,GARD:0018714,GARD:0017240,Rare hematologic disease +GARD:0019453,GARD:0022531,GARD:0020318,GARD:0017235,Rare genetic disease +GARD:0019453,GARD:0022531,GARD:0020318,GARD:0000668,Rare genetic disease +GARD:0019453,GARD:0022522,GARD:0018714,GARD:0000668,Rare hematologic disease +GARD:0019454,GARD:0022522,GARD:0019869,GARD:0020235,Rare hematologic disease +GARD:0019454,GARD:0022522,GARD:0019869,GARD:0020236,Rare hematologic disease +GARD:0019455,GARD:0022522,GARD:0020235,GARD:0006621,Rare hematologic disease +GARD:0019455,GARD:0022522,GARD:0020235,GARD:0017054,Rare hematologic disease +GARD:0019455,GARD:0022531,GARD:0020235,GARD:0019456,Rare genetic disease +GARD:0019455,GARD:0022522,GARD:0020235,GARD:0006639,Rare hematologic disease +GARD:0019455,GARD:0022522,GARD:0020235,GARD:0019456,Rare hematologic disease +GARD:0019455,GARD:0022522,GARD:0020235,GARD:0019457,Rare hematologic disease +GARD:0019455,GARD:0022522,GARD:0020235,GARD:0012354,Rare hematologic disease +GARD:0019455,GARD:0022531,GARD:0020235,GARD:0019457,Rare genetic disease +GARD:0019455,GARD:0022531,GARD:0020235,GARD:0012354,Rare genetic disease +GARD:0019455,GARD:0022531,GARD:0020235,GARD:0006639,Rare genetic disease +GARD:0019455,GARD:0022531,GARD:0020235,GARD:0006621,Rare genetic disease +GARD:0019455,GARD:0022531,GARD:0020235,GARD:0017054,Rare genetic disease +GARD:0019456,GARD:0022522,GARD:0019455,GARD:0016785,Rare hematologic disease +GARD:0019456,GARD:0022531,GARD:0019455,GARD:0016867,Rare genetic disease +GARD:0019456,GARD:0022531,GARD:0019455,GARD:0016785,Rare genetic disease +GARD:0019456,GARD:0022531,GARD:0019455,GARD:0010184,Rare genetic disease +GARD:0019456,GARD:0022531,GARD:0019455,GARD:0004183,Rare genetic disease +GARD:0019456,GARD:0022522,GARD:0019455,GARD:0010184,Rare hematologic disease +GARD:0019456,GARD:0022522,GARD:0019455,GARD:0004183,Rare hematologic disease +GARD:0019456,GARD:0022522,GARD:0019455,GARD:0017036,Rare hematologic disease +GARD:0019456,GARD:0022522,GARD:0019455,GARD:0012916,Rare hematologic disease +GARD:0019456,GARD:0022531,GARD:0019455,GARD:0012916,Rare genetic disease +GARD:0019456,GARD:0022522,GARD:0019455,GARD:0016867,Rare hematologic disease +GARD:0019456,GARD:0022531,GARD:0019455,GARD:0017036,Rare genetic disease +GARD:0019456,GARD:0022522,GARD:0019455,GARD:0005623,Rare hematologic disease +GARD:0019456,GARD:0022531,GARD:0019455,GARD:0005623,Rare genetic disease +GARD:0019457,GARD:0022531,GARD:0019455,GARD:0010731,Rare genetic disease +GARD:0019457,GARD:0022522,GARD:0019455,GARD:0010731,Rare hematologic disease +GARD:0019457,GARD:0022531,GARD:0019455,GARD:0000005,Rare genetic disease +GARD:0019457,GARD:0022522,GARD:0019455,GARD:0000005,Rare hematologic disease +GARD:0019458,GARD:0022531,GARD:0020235,GARD:0019459,Rare genetic disease +GARD:0019458,GARD:0022522,GARD:0020235,GARD:0019459,Rare hematologic disease +GARD:0019458,GARD:0022531,GARD:0020235,GARD:0004446,Rare genetic disease +GARD:0019458,GARD:0022522,GARD:0020235,GARD:0019461,Rare hematologic disease +GARD:0019458,GARD:0022522,GARD:0020235,GARD:0019460,Rare hematologic disease +GARD:0019458,GARD:0022531,GARD:0020235,GARD:0019461,Rare genetic disease +GARD:0019458,GARD:0022531,GARD:0020235,GARD:0019460,Rare genetic disease +GARD:0019458,GARD:0022522,GARD:0020235,GARD:0004446,Rare hematologic disease +GARD:0019459,GARD:0022531,GARD:0019458,GARD:0016897,Rare genetic disease +GARD:0019459,GARD:0022522,GARD:0019458,GARD:0016631,Rare hematologic disease +GARD:0019459,GARD:0022531,GARD:0019458,GARD:0016631,Rare genetic disease +GARD:0019459,GARD:0022531,GARD:0019458,GARD:0010047,Rare genetic disease +GARD:0019459,GARD:0022522,GARD:0019458,GARD:0010047,Rare hematologic disease +GARD:0019459,GARD:0022522,GARD:0019458,GARD:0016784,Rare hematologic disease +GARD:0019459,GARD:0022522,GARD:0019458,GARD:0016897,Rare hematologic disease +GARD:0019459,GARD:0022531,GARD:0019458,GARD:0016784,Rare genetic disease +GARD:0019460,GARD:0022522,GARD:0019458,GARD:0006520,Rare hematologic disease +GARD:0019460,GARD:0022531,GARD:0019458,GARD:0006520,Rare genetic disease +GARD:0019460,GARD:0022531,GARD:0019458,GARD:0007514,Rare genetic disease +GARD:0019460,GARD:0022522,GARD:0019458,GARD:0005686,Rare hematologic disease +GARD:0019460,GARD:0022531,GARD:0019458,GARD:0005686,Rare genetic disease +GARD:0019460,GARD:0022531,GARD:0019458,GARD:0000600,Rare genetic disease +GARD:0019460,GARD:0022531,GARD:0019458,GARD:0001874,Rare genetic disease +GARD:0019460,GARD:0022531,GARD:0019458,GARD:0003672,Rare genetic disease +GARD:0019460,GARD:0022522,GARD:0019458,GARD:0007389,Rare hematologic disease +GARD:0019460,GARD:0022522,GARD:0019458,GARD:0000600,Rare hematologic disease +GARD:0019460,GARD:0022531,GARD:0019458,GARD:0005287,Rare genetic disease +GARD:0019460,GARD:0022522,GARD:0019458,GARD:0003672,Rare hematologic disease +GARD:0019460,GARD:0022531,GARD:0019458,GARD:0007389,Rare genetic disease +GARD:0019460,GARD:0022522,GARD:0019458,GARD:0001874,Rare hematologic disease +GARD:0019460,GARD:0022522,GARD:0019458,GARD:0016541,Rare hematologic disease +GARD:0019460,GARD:0022522,GARD:0019458,GARD:0005287,Rare hematologic disease +GARD:0019460,GARD:0022531,GARD:0019458,GARD:0016541,Rare genetic disease +GARD:0019460,GARD:0022522,GARD:0019458,GARD:0007514,Rare hematologic disease +GARD:0019461,GARD:0022522,GARD:0019458,GARD:0016760,Rare hematologic disease +GARD:0019461,GARD:0022531,GARD:0019458,GARD:0019669,Rare genetic disease +GARD:0019461,GARD:0022531,GARD:0019458,GARD:0016635,Rare genetic disease +GARD:0019461,GARD:0022522,GARD:0019458,GARD:0016635,Rare hematologic disease +GARD:0019461,GARD:0022531,GARD:0019458,GARD:0016760,Rare genetic disease +GARD:0019461,GARD:0022522,GARD:0019458,GARD:0019669,Rare hematologic disease +GARD:0019462,GARD:0022522,GARD:0020669,GARD:0003579,Rare hematologic disease +GARD:0019462,GARD:0022522,GARD:0020669,GARD:0007006,Rare hematologic disease +GARD:0019462,GARD:0022531,GARD:0020669,GARD:0012338,Rare genetic disease +GARD:0019462,GARD:0022522,GARD:0020669,GARD:0012338,Rare hematologic disease +GARD:0019462,GARD:0022531,GARD:0020669,GARD:0016537,Rare genetic disease +GARD:0019462,GARD:0022531,GARD:0020669,GARD:0003024,Rare genetic disease +GARD:0019462,GARD:0022531,GARD:0020669,GARD:0003579,Rare genetic disease +GARD:0019462,GARD:0022522,GARD:0020669,GARD:0016537,Rare hematologic disease +GARD:0019462,GARD:0022531,GARD:0020669,GARD:0007006,Rare genetic disease +GARD:0019462,GARD:0022522,GARD:0020669,GARD:0003024,Rare hematologic disease +GARD:0019463,GARD:0022531,GARD:0020669,GARD:0011000,Rare genetic disease +GARD:0019463,GARD:0022531,GARD:0020669,GARD:0009279,Rare genetic disease +GARD:0019463,GARD:0022531,GARD:0020669,GARD:0012983,Rare genetic disease +GARD:0019463,GARD:0022522,GARD:0020669,GARD:0012983,Rare hematologic disease +GARD:0019463,GARD:0022522,GARD:0020669,GARD:0011000,Rare hematologic disease +GARD:0019463,GARD:0022522,GARD:0020669,GARD:0009279,Rare hematologic disease +GARD:0019464,GARD:0022522,GARD:0020669,GARD:0009210,Rare hematologic disease +GARD:0019464,GARD:0022522,GARD:0020669,GARD:0002943,Rare hematologic disease +GARD:0019464,GARD:0022531,GARD:0020669,GARD:0002943,Rare genetic disease +GARD:0019464,GARD:0022531,GARD:0020669,GARD:0009210,Rare genetic disease +GARD:0019464,GARD:0022531,GARD:0020669,GARD:0005429,Rare genetic disease +GARD:0019464,GARD:0022522,GARD:0020669,GARD:0005429,Rare hematologic disease +GARD:0019465,GARD:0022536,GARD:0020058,GARD:0007793,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019465,GARD:0022522,GARD:0020058,GARD:0007793,Rare hematologic disease +GARD:0019465,GARD:0022536,GARD:0020058,GARD:0010898,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019465,GARD:0022522,GARD:0020058,GARD:0010898,Rare hematologic disease +GARD:0019466,GARD:0022522,GARD:0022522,GARD:0021435,Rare hematologic disease +GARD:0019466,GARD:0022522,GARD:0022522,GARD:0009843,Rare hematologic disease +GARD:0019466,GARD:0022522,GARD:0022522,GARD:0019467,Rare hematologic disease +GARD:0019466,GARD:0022522,GARD:0022522,GARD:0007422,Rare hematologic disease +GARD:0019467,GARD:0022531,GARD:0020682,GARD:0020635,Rare genetic disease +GARD:0019467,GARD:0022522,GARD:0019466,GARD:0020635,Rare hematologic disease +GARD:0019467,GARD:0022522,GARD:0019466,GARD:0020636,Rare hematologic disease +GARD:0019468,GARD:0022522,GARD:0022522,GARD:0020671,Rare hematologic disease +GARD:0019468,GARD:0022522,GARD:0022522,GARD:0020237,Rare hematologic disease +GARD:0019469,GARD:0022531,GARD:0020539,GARD:0008345,Rare genetic disease +GARD:0019469,GARD:0022522,GARD:0020539,GARD:0002562,Rare hematologic disease +GARD:0019469,GARD:0022522,GARD:0020539,GARD:0004224,Rare hematologic disease +GARD:0019469,GARD:0022531,GARD:0020539,GARD:0021598,Rare genetic disease +GARD:0019469,GARD:0022531,GARD:0020539,GARD:0004224,Rare genetic disease +GARD:0019469,GARD:0022531,GARD:0020539,GARD:0002562,Rare genetic disease +GARD:0019469,GARD:0022522,GARD:0020539,GARD:0008345,Rare hematologic disease +GARD:0019469,GARD:0022531,GARD:0020539,GARD:0009282,Rare genetic disease +GARD:0019469,GARD:0022522,GARD:0020539,GARD:0009282,Rare hematologic disease +GARD:0019469,GARD:0022522,GARD:0020539,GARD:0021598,Rare hematologic disease +GARD:0019470,GARD:0022522,GARD:0021967,GARD:0006643,Rare hematologic disease +GARD:0019470,GARD:0022522,GARD:0021967,GARD:0007895,Rare hematologic disease +GARD:0019470,GARD:0022531,GARD:0021967,GARD:0006035,Rare genetic disease +GARD:0019470,GARD:0022522,GARD:0021967,GARD:0010352,Rare hematologic disease +GARD:0019470,GARD:0022531,GARD:0021967,GARD:0010352,Rare genetic disease +GARD:0019470,GARD:0022531,GARD:0021967,GARD:0007895,Rare genetic disease +GARD:0019470,GARD:0022522,GARD:0021967,GARD:0006035,Rare hematologic disease +GARD:0019470,GARD:0022531,GARD:0021967,GARD:0006643,Rare genetic disease +GARD:0019471,GARD:0022524,GARD:0018888,GARD:0020358,Rare neurologic disease +GARD:0019471,GARD:0022524,GARD:0018888,GARD:0020359,Rare neurologic disease +GARD:0019472,GARD:0022531,GARD:0020363,GARD:0020371,Rare genetic disease +GARD:0019472,GARD:0022531,GARD:0020363,GARD:0020370,Rare genetic disease +GARD:0019472,GARD:0022531,GARD:0020363,GARD:0016643,Rare genetic disease +GARD:0019472,GARD:0022531,GARD:0020363,GARD:0020369,Rare genetic disease +GARD:0019472,GARD:0022524,GARD:0020363,GARD:0020369,Rare neurologic disease +GARD:0019472,GARD:0022524,GARD:0020363,GARD:0020370,Rare neurologic disease +GARD:0019472,GARD:0022531,GARD:0020363,GARD:0017067,Rare genetic disease +GARD:0019472,GARD:0022524,GARD:0020363,GARD:0020371,Rare neurologic disease +GARD:0019472,GARD:0022524,GARD:0020363,GARD:0016643,Rare neurologic disease +GARD:0019472,GARD:0022524,GARD:0020363,GARD:0017067,Rare neurologic disease +GARD:0019473,GARD:0022524,GARD:0018888,GARD:0019475,Rare neurologic disease +GARD:0019473,GARD:0022524,GARD:0018888,GARD:0019474,Rare neurologic disease +GARD:0019474,GARD:0022524,GARD:0019473,GARD:0021933,Rare neurologic disease +GARD:0019474,GARD:0022524,GARD:0019473,GARD:0000943,Rare neurologic disease +GARD:0019475,GARD:0022524,GARD:0019473,GARD:0011902,Rare neurologic disease +GARD:0019475,GARD:0022531,GARD:0020279,GARD:0011902,Rare genetic disease +GARD:0019476,GARD:0022524,GARD:0022524,GARD:0020243,Rare neurologic disease +GARD:0019476,GARD:0022524,GARD:0022524,GARD:0010711,Rare neurologic disease +GARD:0019477,GARD:0022524,GARD:0018888,GARD:0010684,Rare neurologic disease +GARD:0019477,GARD:0022524,GARD:0018888,GARD:0005786,Rare neurologic disease +GARD:0019477,GARD:0022524,GARD:0018888,GARD:0021891,Rare neurologic disease +GARD:0019477,GARD:0022524,GARD:0018888,GARD:0019478,Rare neurologic disease +GARD:0019477,GARD:0022524,GARD:0018888,GARD:0019479,Rare neurologic disease +GARD:0019478,GARD:0022531,GARD:0020279,GARD:0019887,Rare genetic disease +GARD:0019478,GARD:0022531,GARD:0020279,GARD:0010314,Rare genetic disease +GARD:0019478,GARD:0022524,GARD:0019477,GARD:0004531,Rare neurologic disease +GARD:0019478,GARD:0022531,GARD:0020279,GARD:0004485,Rare genetic disease +GARD:0019478,GARD:0022531,GARD:0020279,GARD:0010312,Rare genetic disease +GARD:0019478,GARD:0022531,GARD:0020279,GARD:0011901,Rare genetic disease +GARD:0019478,GARD:0022531,GARD:0020279,GARD:0004531,Rare genetic disease +GARD:0019478,GARD:0022524,GARD:0019477,GARD:0010314,Rare neurologic disease +GARD:0019478,GARD:0022531,GARD:0020279,GARD:0012683,Rare genetic disease +GARD:0019478,GARD:0022524,GARD:0019477,GARD:0012683,Rare neurologic disease +GARD:0019478,GARD:0022524,GARD:0019477,GARD:0020365,Rare neurologic disease +GARD:0019478,GARD:0022524,GARD:0019477,GARD:0004485,Rare neurologic disease +GARD:0019478,GARD:0022524,GARD:0019477,GARD:0019887,Rare neurologic disease +GARD:0019478,GARD:0022531,GARD:0020279,GARD:0004914,Rare genetic disease +GARD:0019478,GARD:0022524,GARD:0019477,GARD:0003875,Rare neurologic disease +GARD:0019478,GARD:0022524,GARD:0019477,GARD:0004914,Rare neurologic disease +GARD:0019478,GARD:0022531,GARD:0020279,GARD:0020454,Rare genetic disease +GARD:0019478,GARD:0022524,GARD:0019477,GARD:0020454,Rare neurologic disease +GARD:0019478,GARD:0022524,GARD:0019477,GARD:0011901,Rare neurologic disease +GARD:0019478,GARD:0022524,GARD:0019477,GARD:0010502,Rare neurologic disease +GARD:0019478,GARD:0022531,GARD:0020279,GARD:0010502,Rare genetic disease +GARD:0019478,GARD:0022531,GARD:0020279,GARD:0020365,Rare genetic disease +GARD:0019478,GARD:0022531,GARD:0020279,GARD:0003875,Rare genetic disease +GARD:0019478,GARD:0022524,GARD:0019477,GARD:0010312,Rare neurologic disease +GARD:0019478,GARD:0022524,GARD:0019477,GARD:0017882,Rare neurologic disease +GARD:0019478,GARD:0022531,GARD:0020279,GARD:0017882,Rare genetic disease +GARD:0019479,GARD:0022524,GARD:0019477,GARD:0019250,Rare neurologic disease +GARD:0019479,GARD:0022524,GARD:0019477,GARD:0019718,Rare neurologic disease +GARD:0019479,GARD:0022524,GARD:0019477,GARD:0009697,Rare neurologic disease +GARD:0019479,GARD:0022524,GARD:0019477,GARD:0007413,Rare neurologic disease +GARD:0019479,GARD:0022524,GARD:0019477,GARD:0004454,Rare neurologic disease +GARD:0019480,GARD:0022524,GARD:0020238,GARD:0006802,Rare neurologic disease +GARD:0019480,GARD:0022524,GARD:0020238,GARD:0020337,Rare neurologic disease +GARD:0019480,GARD:0022513,GARD:0020238,GARD:0006802,Rare developmental defect during embryogenesis +GARD:0019480,GARD:0022513,GARD:0020238,GARD:0020337,Rare developmental defect during embryogenesis +GARD:0019480,GARD:0022524,GARD:0020238,GARD:0020990,Rare neurologic disease +GARD:0019480,GARD:0022513,GARD:0020238,GARD:0020990,Rare developmental defect during embryogenesis +GARD:0019481,GARD:0022524,GARD:0020238,GARD:0020995,Rare neurologic disease +GARD:0019481,GARD:0022524,GARD:0020238,GARD:0020996,Rare neurologic disease +GARD:0019481,GARD:0022513,GARD:0020238,GARD:0020995,Rare developmental defect during embryogenesis +GARD:0019481,GARD:0022513,GARD:0020238,GARD:0020996,Rare developmental defect during embryogenesis +GARD:0019482,GARD:0022513,GARD:0019865,GARD:0006288,Rare developmental defect during embryogenesis +GARD:0019482,GARD:0022531,GARD:0021003,GARD:0008549,Rare genetic disease +GARD:0019482,GARD:0022513,GARD:0019865,GARD:0008549,Rare developmental defect during embryogenesis +GARD:0019482,GARD:0022531,GARD:0021003,GARD:0008583,Rare genetic disease +GARD:0019482,GARD:0022513,GARD:0019865,GARD:0017379,Rare developmental defect during embryogenesis +GARD:0019482,GARD:0022531,GARD:0021003,GARD:0021438,Rare genetic disease +GARD:0019482,GARD:0022524,GARD:0019865,GARD:0008583,Rare neurologic disease +GARD:0019482,GARD:0022524,GARD:0019865,GARD:0021438,Rare neurologic disease +GARD:0019482,GARD:0022531,GARD:0021003,GARD:0017379,Rare genetic disease +GARD:0019482,GARD:0022524,GARD:0019865,GARD:0017379,Rare neurologic disease +GARD:0019482,GARD:0022513,GARD:0019865,GARD:0008583,Rare developmental defect during embryogenesis +GARD:0019482,GARD:0022524,GARD:0019865,GARD:0006288,Rare neurologic disease +GARD:0019482,GARD:0022531,GARD:0021003,GARD:0006288,Rare genetic disease +GARD:0019482,GARD:0022513,GARD:0019865,GARD:0021438,Rare developmental defect during embryogenesis +GARD:0019482,GARD:0022524,GARD:0019865,GARD:0008549,Rare neurologic disease +GARD:0019483,GARD:0022524,GARD:0019865,GARD:0019355,Rare neurologic disease +GARD:0019483,GARD:0022513,GARD:0019865,GARD:0020238,Rare developmental defect during embryogenesis +GARD:0019483,GARD:0022513,GARD:0019865,GARD:0010977,Rare developmental defect during embryogenesis +GARD:0019483,GARD:0022513,GARD:0019865,GARD:0019355,Rare developmental defect during embryogenesis +GARD:0019483,GARD:0022513,GARD:0019865,GARD:0019603,Rare developmental defect during embryogenesis +GARD:0019483,GARD:0022513,GARD:0019865,GARD:0006242,Rare developmental defect during embryogenesis +GARD:0019483,GARD:0022524,GARD:0019865,GARD:0006242,Rare neurologic disease +GARD:0019483,GARD:0022524,GARD:0019865,GARD:0019603,Rare neurologic disease +GARD:0019483,GARD:0022513,GARD:0019865,GARD:0010919,Rare developmental defect during embryogenesis +GARD:0019483,GARD:0022524,GARD:0019865,GARD:0020238,Rare neurologic disease +GARD:0019483,GARD:0022524,GARD:0019865,GARD:0010977,Rare neurologic disease +GARD:0019483,GARD:0022524,GARD:0019865,GARD:0010919,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0008541,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0009239,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0010981,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0019486,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0010510,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0018851,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0010981,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0017741,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0017684,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0018851,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0011927,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0010902,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0008541,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0021738,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0009239,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0012798,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0019486,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0010510,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0010902,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0021702,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0009921,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0017684,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0017741,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0009921,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0021738,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0012798,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0011899,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0019485,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0021702,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0011899,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0011927,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0019485,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0020240,GARD:0006677,Rare neurologic disease +GARD:0019484,GARD:0022524,GARD:0019096,GARD:0006677,Rare neurologic disease +GARD:0019485,GARD:0022524,GARD:0019484,GARD:0010899,Rare neurologic disease +GARD:0019485,GARD:0022524,GARD:0019484,GARD:0017273,Rare neurologic disease +GARD:0019485,GARD:0022524,GARD:0019484,GARD:0007471,Rare neurologic disease +GARD:0019485,GARD:0022524,GARD:0019484,GARD:0008436,Rare neurologic disease +GARD:0019485,GARD:0022524,GARD:0019484,GARD:0013168,Rare neurologic disease +GARD:0019486,GARD:0022531,GARD:0021039,GARD:0019487,Rare genetic disease +GARD:0019486,GARD:0022524,GARD:0019484,GARD:0019487,Rare neurologic disease +GARD:0019486,GARD:0022531,GARD:0021039,GARD:0019488,Rare genetic disease +GARD:0019486,GARD:0022524,GARD:0019484,GARD:0019488,Rare neurologic disease +GARD:0019487,GARD:0022531,GARD:0019486,GARD:0018718,Rare genetic disease +GARD:0019487,GARD:0022524,GARD:0019486,GARD:0018718,Rare neurologic disease +GARD:0019488,GARD:0022524,GARD:0019486,GARD:0004346,Rare neurologic disease +GARD:0019488,GARD:0022531,GARD:0019486,GARD:0004346,Rare genetic disease +GARD:0019489,GARD:0022524,GARD:0019096,GARD:0006649,Rare neurologic disease +GARD:0019489,GARD:0022524,GARD:0019096,GARD:0019370,Rare neurologic disease +GARD:0019490,GARD:0022531,GARD:0020028,GARD:0019491,Rare genetic disease +GARD:0019490,GARD:0022524,GARD:0019096,GARD:0003230,Rare neurologic disease +GARD:0019490,GARD:0022524,GARD:0019096,GARD:0010739,Rare neurologic disease +GARD:0019490,GARD:0022524,GARD:0019096,GARD:0019491,Rare neurologic disease +GARD:0019490,GARD:0022524,GARD:0019096,GARD:0005758,Rare neurologic disease +GARD:0019490,GARD:0022531,GARD:0020028,GARD:0005758,Rare genetic disease +GARD:0019490,GARD:0022531,GARD:0020028,GARD:0003230,Rare genetic disease +GARD:0019490,GARD:0022531,GARD:0020028,GARD:0010739,Rare genetic disease +GARD:0019491,GARD:0022531,GARD:0019490,GARD:0002442,Rare genetic disease +GARD:0019491,GARD:0022531,GARD:0019490,GARD:0010973,Rare genetic disease +GARD:0019491,GARD:0022531,GARD:0019490,GARD:0005622,Rare genetic disease +GARD:0019491,GARD:0022531,GARD:0019490,GARD:0007207,Rare genetic disease +GARD:0019491,GARD:0022531,GARD:0019490,GARD:0002441,Rare genetic disease +GARD:0019491,GARD:0022524,GARD:0019490,GARD:0002521,Rare neurologic disease +GARD:0019491,GARD:0022524,GARD:0019490,GARD:0007207,Rare neurologic disease +GARD:0019491,GARD:0022524,GARD:0019490,GARD:0010973,Rare neurologic disease +GARD:0019491,GARD:0022524,GARD:0019490,GARD:0002442,Rare neurologic disease +GARD:0019491,GARD:0022524,GARD:0019490,GARD:0004938,Rare neurologic disease +GARD:0019491,GARD:0022524,GARD:0019490,GARD:0005622,Rare neurologic disease +GARD:0019491,GARD:0022531,GARD:0019490,GARD:0009447,Rare genetic disease +GARD:0019491,GARD:0022524,GARD:0019490,GARD:0002441,Rare neurologic disease +GARD:0019491,GARD:0022531,GARD:0019490,GARD:0002443,Rare genetic disease +GARD:0019491,GARD:0022524,GARD:0019490,GARD:0020345,Rare neurologic disease +GARD:0019491,GARD:0022531,GARD:0019490,GARD:0007737,Rare genetic disease +GARD:0019491,GARD:0022531,GARD:0019490,GARD:0002521,Rare genetic disease +GARD:0019491,GARD:0022524,GARD:0019490,GARD:0002443,Rare neurologic disease +GARD:0019491,GARD:0022524,GARD:0019490,GARD:0007737,Rare neurologic disease +GARD:0019491,GARD:0022531,GARD:0019490,GARD:0020345,Rare genetic disease +GARD:0019491,GARD:0022524,GARD:0019490,GARD:0009447,Rare neurologic disease +GARD:0019491,GARD:0022531,GARD:0019490,GARD:0004938,Rare genetic disease +GARD:0019492,GARD:0022531,GARD:0020028,GARD:0001049,Rare genetic disease +GARD:0019492,GARD:0022524,GARD:0019096,GARD:0022320,Rare neurologic disease +GARD:0019492,GARD:0022531,GARD:0020028,GARD:0022320,Rare genetic disease +GARD:0019492,GARD:0022524,GARD:0019096,GARD:0010266,Rare neurologic disease +GARD:0019492,GARD:0022524,GARD:0019096,GARD:0001049,Rare neurologic disease +GARD:0019492,GARD:0022531,GARD:0020028,GARD:0010266,Rare genetic disease +GARD:0019493,GARD:0022513,GARD:0022082,GARD:0020342,Rare developmental defect during embryogenesis +GARD:0019493,GARD:0022513,GARD:0022082,GARD:0012085,Rare developmental defect during embryogenesis +GARD:0019493,GARD:0022520,GARD:0022082,GARD:0012085,Rare ophthalmic disorder +GARD:0019493,GARD:0022531,GARD:0022165,GARD:0020342,Rare genetic disease +GARD:0019493,GARD:0022520,GARD:0022082,GARD:0020342,Rare ophthalmic disorder +GARD:0019493,GARD:0022531,GARD:0022165,GARD:0012085,Rare genetic disease +GARD:0019494,GARD:0022520,GARD:0022084,GARD:0000690,Rare ophthalmic disorder +GARD:0019494,GARD:0022520,GARD:0022084,GARD:0000689,Rare ophthalmic disorder +GARD:0019494,GARD:0022531,GARD:0022084,GARD:0000685,Rare genetic disease +GARD:0019494,GARD:0022520,GARD:0022084,GARD:0005528,Rare ophthalmic disorder +GARD:0019494,GARD:0022513,GARD:0022084,GARD:0000689,Rare developmental defect during embryogenesis +GARD:0019494,GARD:0022513,GARD:0022084,GARD:0005528,Rare developmental defect during embryogenesis +GARD:0019494,GARD:0022513,GARD:0022084,GARD:0000013,Rare developmental defect during embryogenesis +GARD:0019494,GARD:0022513,GARD:0022084,GARD:0000685,Rare developmental defect during embryogenesis +GARD:0019494,GARD:0022513,GARD:0022084,GARD:0005530,Rare developmental defect during embryogenesis +GARD:0019494,GARD:0022520,GARD:0022084,GARD:0000685,Rare ophthalmic disorder +GARD:0019494,GARD:0022531,GARD:0022084,GARD:0005528,Rare genetic disease +GARD:0019494,GARD:0022520,GARD:0022084,GARD:0000013,Rare ophthalmic disorder +GARD:0019494,GARD:0022513,GARD:0022084,GARD:0000690,Rare developmental defect during embryogenesis +GARD:0019494,GARD:0022531,GARD:0022084,GARD:0000013,Rare genetic disease +GARD:0019494,GARD:0022520,GARD:0022084,GARD:0005530,Rare ophthalmic disorder +GARD:0019494,GARD:0022531,GARD:0022084,GARD:0005530,Rare genetic disease +GARD:0019494,GARD:0022531,GARD:0022084,GARD:0000690,Rare genetic disease +GARD:0019494,GARD:0022531,GARD:0022084,GARD:0000689,Rare genetic disease +GARD:0019495,GARD:0022513,GARD:0016857,GARD:0019496,Rare developmental defect during embryogenesis +GARD:0019495,GARD:0022520,GARD:0022079,GARD:0019496,Rare ophthalmic disorder +GARD:0019495,GARD:0022520,GARD:0022079,GARD:0019501,Rare ophthalmic disorder +GARD:0019495,GARD:0022513,GARD:0016857,GARD:0019501,Rare developmental defect during embryogenesis +GARD:0019496,GARD:0022513,GARD:0019495,GARD:0019497,Rare developmental defect during embryogenesis +GARD:0019496,GARD:0022520,GARD:0019495,GARD:0019675,Rare ophthalmic disorder +GARD:0019496,GARD:0022513,GARD:0019495,GARD:0019675,Rare developmental defect during embryogenesis +GARD:0019496,GARD:0022531,GARD:0022160,GARD:0010505,Rare genetic disease +GARD:0019496,GARD:0022531,GARD:0022160,GARD:0019498,Rare genetic disease +GARD:0019496,GARD:0022520,GARD:0019495,GARD:0019497,Rare ophthalmic disorder +GARD:0019496,GARD:0022531,GARD:0022160,GARD:0019497,Rare genetic disease +GARD:0019496,GARD:0022520,GARD:0019495,GARD:0010505,Rare ophthalmic disorder +GARD:0019496,GARD:0022513,GARD:0019495,GARD:0019498,Rare developmental defect during embryogenesis +GARD:0019496,GARD:0022520,GARD:0019495,GARD:0019498,Rare ophthalmic disorder +GARD:0019496,GARD:0022513,GARD:0019495,GARD:0010505,Rare developmental defect during embryogenesis +GARD:0019496,GARD:0022531,GARD:0022160,GARD:0019675,Rare genetic disease +GARD:0019497,GARD:0022513,GARD:0019496,GARD:0000003,Rare developmental defect during embryogenesis +GARD:0019497,GARD:0022513,GARD:0019496,GARD:0000102,Rare developmental defect during embryogenesis +GARD:0019497,GARD:0022520,GARD:0019496,GARD:0000003,Rare ophthalmic disorder +GARD:0019497,GARD:0022531,GARD:0019496,GARD:0000003,Rare genetic disease +GARD:0019497,GARD:0022520,GARD:0019496,GARD:0000102,Rare ophthalmic disorder +GARD:0019497,GARD:0022531,GARD:0019496,GARD:0000102,Rare genetic disease +GARD:0019498,GARD:0022513,GARD:0019496,GARD:0019605,Rare developmental defect during embryogenesis +GARD:0019498,GARD:0022531,GARD:0019496,GARD:0019168,Rare genetic disease +GARD:0019498,GARD:0022520,GARD:0019496,GARD:0019168,Rare ophthalmic disorder +GARD:0019498,GARD:0022520,GARD:0019496,GARD:0019500,Rare ophthalmic disorder +GARD:0019498,GARD:0022520,GARD:0019496,GARD:0019605,Rare ophthalmic disorder +GARD:0019498,GARD:0022513,GARD:0019496,GARD:0019499,Rare developmental defect during embryogenesis +GARD:0019498,GARD:0022513,GARD:0019496,GARD:0019168,Rare developmental defect during embryogenesis +GARD:0019498,GARD:0022520,GARD:0019496,GARD:0019499,Rare ophthalmic disorder +GARD:0019498,GARD:0022531,GARD:0019496,GARD:0019500,Rare genetic disease +GARD:0019498,GARD:0022531,GARD:0019496,GARD:0019499,Rare genetic disease +GARD:0019498,GARD:0022531,GARD:0019496,GARD:0019605,Rare genetic disease +GARD:0019498,GARD:0022513,GARD:0019496,GARD:0019500,Rare developmental defect during embryogenesis +GARD:0019499,GARD:0022531,GARD:0019498,GARD:0021189,Rare genetic disease +GARD:0019499,GARD:0022520,GARD:0019498,GARD:0005066,Rare ophthalmic disorder +GARD:0019499,GARD:0022513,GARD:0019498,GARD:0005066,Rare developmental defect during embryogenesis +GARD:0019499,GARD:0022513,GARD:0019498,GARD:0002390,Rare developmental defect during embryogenesis +GARD:0019499,GARD:0022531,GARD:0019498,GARD:0005066,Rare genetic disease +GARD:0019499,GARD:0022513,GARD:0019498,GARD:0006571,Rare developmental defect during embryogenesis +GARD:0019499,GARD:0022531,GARD:0019498,GARD:0006571,Rare genetic disease +GARD:0019499,GARD:0022513,GARD:0019498,GARD:0021189,Rare developmental defect during embryogenesis +GARD:0019499,GARD:0022520,GARD:0019498,GARD:0006571,Rare ophthalmic disorder +GARD:0019499,GARD:0022531,GARD:0019498,GARD:0002390,Rare genetic disease +GARD:0019499,GARD:0022520,GARD:0019498,GARD:0002390,Rare ophthalmic disorder +GARD:0019499,GARD:0022520,GARD:0019498,GARD:0021189,Rare ophthalmic disorder +GARD:0019500,GARD:0022513,GARD:0019498,GARD:0003395,Rare developmental defect during embryogenesis +GARD:0019500,GARD:0022520,GARD:0019498,GARD:0009124,Rare ophthalmic disorder +GARD:0019500,GARD:0022520,GARD:0019498,GARD:0008410,Rare ophthalmic disorder +GARD:0019500,GARD:0022513,GARD:0019498,GARD:0002390,Rare developmental defect during embryogenesis +GARD:0019500,GARD:0022531,GARD:0019498,GARD:0002390,Rare genetic disease +GARD:0019500,GARD:0022531,GARD:0019498,GARD:0003927,Rare genetic disease +GARD:0019500,GARD:0022520,GARD:0019498,GARD:0003395,Rare ophthalmic disorder +GARD:0019500,GARD:0022531,GARD:0019498,GARD:0003395,Rare genetic disease +GARD:0019500,GARD:0022513,GARD:0019498,GARD:0003927,Rare developmental defect during embryogenesis +GARD:0019500,GARD:0022513,GARD:0019498,GARD:0009124,Rare developmental defect during embryogenesis +GARD:0019500,GARD:0022513,GARD:0019498,GARD:0000498,Rare developmental defect during embryogenesis +GARD:0019500,GARD:0022531,GARD:0019498,GARD:0004436,Rare genetic disease +GARD:0019500,GARD:0022531,GARD:0019498,GARD:0000498,Rare genetic disease +GARD:0019500,GARD:0022520,GARD:0019498,GARD:0003927,Rare ophthalmic disorder +GARD:0019500,GARD:0022520,GARD:0019498,GARD:0002390,Rare ophthalmic disorder +GARD:0019500,GARD:0022513,GARD:0019498,GARD:0008410,Rare developmental defect during embryogenesis +GARD:0019500,GARD:0022520,GARD:0019498,GARD:0004436,Rare ophthalmic disorder +GARD:0019500,GARD:0022520,GARD:0019498,GARD:0000498,Rare ophthalmic disorder +GARD:0019500,GARD:0022531,GARD:0019498,GARD:0009124,Rare genetic disease +GARD:0019500,GARD:0022513,GARD:0019498,GARD:0004436,Rare developmental defect during embryogenesis +GARD:0019500,GARD:0022531,GARD:0019498,GARD:0008410,Rare genetic disease +GARD:0019501,GARD:0022513,GARD:0019495,GARD:0019674,Rare developmental defect during embryogenesis +GARD:0019501,GARD:0022513,GARD:0019495,GARD:0019504,Rare developmental defect during embryogenesis +GARD:0019501,GARD:0022520,GARD:0019495,GARD:0022081,Rare ophthalmic disorder +GARD:0019501,GARD:0022513,GARD:0019495,GARD:0019507,Rare developmental defect during embryogenesis +GARD:0019501,GARD:0022520,GARD:0019495,GARD:0005913,Rare ophthalmic disorder +GARD:0019501,GARD:0022513,GARD:0019495,GARD:0019506,Rare developmental defect during embryogenesis +GARD:0019501,GARD:0022520,GARD:0019495,GARD:0019504,Rare ophthalmic disorder +GARD:0019501,GARD:0022513,GARD:0019495,GARD:0022080,Rare developmental defect during embryogenesis +GARD:0019501,GARD:0022520,GARD:0019495,GARD:0019506,Rare ophthalmic disorder +GARD:0019501,GARD:0022513,GARD:0019495,GARD:0022124,Rare developmental defect during embryogenesis +GARD:0019501,GARD:0022513,GARD:0019495,GARD:0019505,Rare developmental defect during embryogenesis +GARD:0019501,GARD:0022513,GARD:0019495,GARD:0019671,Rare developmental defect during embryogenesis +GARD:0019501,GARD:0022520,GARD:0019495,GARD:0022124,Rare ophthalmic disorder +GARD:0019501,GARD:0022520,GARD:0019495,GARD:0019505,Rare ophthalmic disorder +GARD:0019501,GARD:0022513,GARD:0019495,GARD:0000201,Rare developmental defect during embryogenesis +GARD:0019501,GARD:0022520,GARD:0019495,GARD:0022080,Rare ophthalmic disorder +GARD:0019501,GARD:0022520,GARD:0019495,GARD:0019674,Rare ophthalmic disorder +GARD:0019501,GARD:0022513,GARD:0019495,GARD:0022081,Rare developmental defect during embryogenesis +GARD:0019501,GARD:0022520,GARD:0019495,GARD:0019507,Rare ophthalmic disorder +GARD:0019501,GARD:0022520,GARD:0019495,GARD:0000201,Rare ophthalmic disorder +GARD:0019501,GARD:0022520,GARD:0019495,GARD:0019671,Rare ophthalmic disorder +GARD:0019501,GARD:0022513,GARD:0019495,GARD:0005913,Rare developmental defect during embryogenesis +GARD:0019502,GARD:0022520,GARD:0022080,GARD:0017547,Rare ophthalmic disorder +GARD:0019502,GARD:0022513,GARD:0022080,GARD:0002071,Rare developmental defect during embryogenesis +GARD:0019502,GARD:0022531,GARD:0022080,GARD:0002071,Rare genetic disease +GARD:0019502,GARD:0022513,GARD:0022080,GARD:0017547,Rare developmental defect during embryogenesis +GARD:0019502,GARD:0022513,GARD:0022080,GARD:0019673,Rare developmental defect during embryogenesis +GARD:0019502,GARD:0022531,GARD:0022080,GARD:0006810,Rare genetic disease +GARD:0019502,GARD:0022513,GARD:0022080,GARD:0006810,Rare developmental defect during embryogenesis +GARD:0019502,GARD:0022520,GARD:0022080,GARD:0006810,Rare ophthalmic disorder +GARD:0019502,GARD:0022531,GARD:0022080,GARD:0019673,Rare genetic disease +GARD:0019502,GARD:0022520,GARD:0022080,GARD:0002071,Rare ophthalmic disorder +GARD:0019502,GARD:0022531,GARD:0022080,GARD:0017547,Rare genetic disease +GARD:0019502,GARD:0022520,GARD:0022080,GARD:0019673,Rare ophthalmic disorder +GARD:0019503,GARD:0022520,GARD:0022080,GARD:0000292,Rare ophthalmic disorder +GARD:0019503,GARD:0022520,GARD:0022080,GARD:0008410,Rare ophthalmic disorder +GARD:0019503,GARD:0022513,GARD:0022080,GARD:0005630,Rare developmental defect during embryogenesis +GARD:0019503,GARD:0022520,GARD:0022080,GARD:0021106,Rare ophthalmic disorder +GARD:0019503,GARD:0022513,GARD:0022080,GARD:0000819,Rare developmental defect during embryogenesis +GARD:0019503,GARD:0022520,GARD:0022080,GARD:0000819,Rare ophthalmic disorder +GARD:0019503,GARD:0022531,GARD:0022080,GARD:0005630,Rare genetic disease +GARD:0019503,GARD:0022513,GARD:0022080,GARD:0007910,Rare developmental defect during embryogenesis +GARD:0019503,GARD:0022531,GARD:0022080,GARD:0008410,Rare genetic disease +GARD:0019503,GARD:0022531,GARD:0022080,GARD:0010247,Rare genetic disease +GARD:0019503,GARD:0022531,GARD:0022080,GARD:0021106,Rare genetic disease +GARD:0019503,GARD:0022531,GARD:0022080,GARD:0007910,Rare genetic disease +GARD:0019503,GARD:0022513,GARD:0022080,GARD:0008410,Rare developmental defect during embryogenesis +GARD:0019503,GARD:0022520,GARD:0022080,GARD:0005630,Rare ophthalmic disorder +GARD:0019503,GARD:0022520,GARD:0022080,GARD:0007910,Rare ophthalmic disorder +GARD:0019503,GARD:0022520,GARD:0022080,GARD:0010247,Rare ophthalmic disorder +GARD:0019503,GARD:0022531,GARD:0022080,GARD:0017130,Rare genetic disease +GARD:0019503,GARD:0022513,GARD:0022080,GARD:0010247,Rare developmental defect during embryogenesis +GARD:0019503,GARD:0022513,GARD:0022080,GARD:0017130,Rare developmental defect during embryogenesis +GARD:0019503,GARD:0022531,GARD:0022080,GARD:0000292,Rare genetic disease +GARD:0019503,GARD:0022513,GARD:0022080,GARD:0021106,Rare developmental defect during embryogenesis +GARD:0019503,GARD:0022513,GARD:0022080,GARD:0000292,Rare developmental defect during embryogenesis +GARD:0019503,GARD:0022520,GARD:0022080,GARD:0017130,Rare ophthalmic disorder +GARD:0019503,GARD:0022531,GARD:0022080,GARD:0000819,Rare genetic disease +GARD:0019504,GARD:0022531,GARD:0022161,GARD:0008341,Rare genetic disease +GARD:0019504,GARD:0022520,GARD:0019501,GARD:0007891,Rare ophthalmic disorder +GARD:0019504,GARD:0022520,GARD:0019501,GARD:0016570,Rare ophthalmic disorder +GARD:0019504,GARD:0022531,GARD:0022161,GARD:0007891,Rare genetic disease +GARD:0019504,GARD:0022520,GARD:0019501,GARD:0006213,Rare ophthalmic disorder +GARD:0019504,GARD:0022531,GARD:0022161,GARD:0016645,Rare genetic disease +GARD:0019504,GARD:0022520,GARD:0019501,GARD:0005683,Rare ophthalmic disorder +GARD:0019504,GARD:0022513,GARD:0019501,GARD:0007831,Rare developmental defect during embryogenesis +GARD:0019504,GARD:0022531,GARD:0022161,GARD:0010247,Rare genetic disease +GARD:0019504,GARD:0022520,GARD:0019501,GARD:0008341,Rare ophthalmic disorder +GARD:0019504,GARD:0022513,GARD:0019501,GARD:0005683,Rare developmental defect during embryogenesis +GARD:0019504,GARD:0022513,GARD:0019501,GARD:0010247,Rare developmental defect during embryogenesis +GARD:0019504,GARD:0022531,GARD:0022161,GARD:0018739,Rare genetic disease +GARD:0019504,GARD:0022520,GARD:0019501,GARD:0018739,Rare ophthalmic disorder +GARD:0019504,GARD:0022513,GARD:0019501,GARD:0016645,Rare developmental defect during embryogenesis +GARD:0019504,GARD:0022520,GARD:0019501,GARD:0010247,Rare ophthalmic disorder +GARD:0019504,GARD:0022513,GARD:0019501,GARD:0018739,Rare developmental defect during embryogenesis +GARD:0019504,GARD:0022513,GARD:0019501,GARD:0006213,Rare developmental defect during embryogenesis +GARD:0019504,GARD:0022531,GARD:0022161,GARD:0016570,Rare genetic disease +GARD:0019504,GARD:0022513,GARD:0019501,GARD:0016570,Rare developmental defect during embryogenesis +GARD:0019504,GARD:0022520,GARD:0019501,GARD:0016645,Rare ophthalmic disorder +GARD:0019504,GARD:0022531,GARD:0022161,GARD:0006213,Rare genetic disease +GARD:0019504,GARD:0022513,GARD:0019501,GARD:0008341,Rare developmental defect during embryogenesis +GARD:0019504,GARD:0022531,GARD:0022161,GARD:0005683,Rare genetic disease +GARD:0019504,GARD:0022531,GARD:0022161,GARD:0007831,Rare genetic disease +GARD:0019504,GARD:0022513,GARD:0019501,GARD:0007891,Rare developmental defect during embryogenesis +GARD:0019504,GARD:0022520,GARD:0019501,GARD:0007831,Rare ophthalmic disorder +GARD:0019505,GARD:0022531,GARD:0022161,GARD:0005519,Rare genetic disease +GARD:0019505,GARD:0022513,GARD:0019501,GARD:0022312,Rare developmental defect during embryogenesis +GARD:0019505,GARD:0022513,GARD:0019501,GARD:0000023,Rare developmental defect during embryogenesis +GARD:0019505,GARD:0022531,GARD:0022161,GARD:0003084,Rare genetic disease +GARD:0019505,GARD:0022531,GARD:0022161,GARD:0000023,Rare genetic disease +GARD:0019505,GARD:0022520,GARD:0019501,GARD:0005519,Rare ophthalmic disorder +GARD:0019505,GARD:0022520,GARD:0019501,GARD:0022312,Rare ophthalmic disorder +GARD:0019505,GARD:0022531,GARD:0022161,GARD:0005523,Rare genetic disease +GARD:0019505,GARD:0022513,GARD:0019501,GARD:0000193,Rare developmental defect during embryogenesis +GARD:0019505,GARD:0022520,GARD:0019501,GARD:0003084,Rare ophthalmic disorder +GARD:0019505,GARD:0022513,GARD:0019501,GARD:0003084,Rare developmental defect during embryogenesis +GARD:0019505,GARD:0022513,GARD:0019501,GARD:0005523,Rare developmental defect during embryogenesis +GARD:0019505,GARD:0022513,GARD:0019501,GARD:0005519,Rare developmental defect during embryogenesis +GARD:0019505,GARD:0022520,GARD:0019501,GARD:0005523,Rare ophthalmic disorder +GARD:0019505,GARD:0022520,GARD:0019501,GARD:0000193,Rare ophthalmic disorder +GARD:0019505,GARD:0022531,GARD:0022161,GARD:0000193,Rare genetic disease +GARD:0019505,GARD:0022531,GARD:0022161,GARD:0022312,Rare genetic disease +GARD:0019505,GARD:0022520,GARD:0019501,GARD:0000023,Rare ophthalmic disorder +GARD:0019506,GARD:0022531,GARD:0022161,GARD:0009124,Rare genetic disease +GARD:0019506,GARD:0022531,GARD:0022161,GARD:0010955,Rare genetic disease +GARD:0019506,GARD:0022513,GARD:0019501,GARD:0010247,Rare developmental defect during embryogenesis +GARD:0019506,GARD:0022520,GARD:0019501,GARD:0010955,Rare ophthalmic disorder +GARD:0019506,GARD:0022520,GARD:0019501,GARD:0010719,Rare ophthalmic disorder +GARD:0019506,GARD:0022513,GARD:0019501,GARD:0000498,Rare developmental defect during embryogenesis +GARD:0019506,GARD:0022520,GARD:0019501,GARD:0009124,Rare ophthalmic disorder +GARD:0019506,GARD:0022520,GARD:0019501,GARD:0000498,Rare ophthalmic disorder +GARD:0019506,GARD:0022513,GARD:0019501,GARD:0009124,Rare developmental defect during embryogenesis +GARD:0019506,GARD:0022520,GARD:0019501,GARD:0010247,Rare ophthalmic disorder +GARD:0019506,GARD:0022531,GARD:0022161,GARD:0010719,Rare genetic disease +GARD:0019506,GARD:0022531,GARD:0022161,GARD:0000498,Rare genetic disease +GARD:0019506,GARD:0022531,GARD:0022161,GARD:0010247,Rare genetic disease +GARD:0019506,GARD:0022513,GARD:0019501,GARD:0010719,Rare developmental defect during embryogenesis +GARD:0019506,GARD:0022513,GARD:0019501,GARD:0010955,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0020593,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0002742,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0009849,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0011902,Rare ophthalmic disorder +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0005496,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0000216,Rare genetic disease +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0009920,Rare genetic disease +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0000307,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0012590,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0006675,Rare ophthalmic disorder +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0000023,Rare genetic disease +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0009728,Rare genetic disease +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0011925,Rare genetic disease +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0009728,Rare ophthalmic disorder +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0009124,Rare genetic disease +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0000936,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0007245,Rare ophthalmic disorder +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0022312,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0005496,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0011925,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0007598,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0011902,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0010109,Rare ophthalmic disorder +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0001903,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0000023,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0006290,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0000936,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0000427,Rare ophthalmic disorder +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0000936,Rare genetic disease +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0005683,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0010892,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0011902,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0009124,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0016798,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0005279,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0022047,Rare ophthalmic disorder +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0001903,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0010955,Rare ophthalmic disorder +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0000307,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0009920,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0010892,Rare ophthalmic disorder +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0010955,Rare genetic disease +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0006972,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0009124,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0005496,Rare ophthalmic disorder +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0016798,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0007245,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0010892,Rare genetic disease +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0004559,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0022312,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0016479,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0020593,Rare ophthalmic disorder +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0000307,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0016479,Rare genetic disease +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0006675,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0001237,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0001903,Rare ophthalmic disorder +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0016479,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0006972,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0005683,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0022047,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0010955,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0005279,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0012592,Rare ophthalmic disorder +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0004577,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0000905,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0008310,Rare ophthalmic disorder +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0010109,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0004577,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0006670,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0006675,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0005279,Rare genetic disease +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0000023,Rare ophthalmic disorder +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0004559,Rare genetic disease +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0006972,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0008310,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0000216,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0004559,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0011925,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0006290,Rare ophthalmic disorder +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0000905,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0022312,Rare genetic disease +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0009920,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0001237,Rare ophthalmic disorder +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0007245,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0000427,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0009849,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0022047,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0010109,Rare genetic disease +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0000216,Rare ophthalmic disorder +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0000905,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0012592,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0016798,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0002742,Rare ophthalmic disorder +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0012590,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0009849,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0006290,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0009728,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0007598,Rare ophthalmic disorder +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0004577,Rare ophthalmic disorder +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0012592,Rare genetic disease +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0005683,Rare ophthalmic disorder +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0006670,Rare genetic disease +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0002742,Rare genetic disease +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0000427,Rare genetic disease +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0001237,Rare genetic disease +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0007598,Rare genetic disease +GARD:0019507,GARD:0022513,GARD:0019501,GARD:0012590,Rare developmental defect during embryogenesis +GARD:0019507,GARD:0022520,GARD:0019501,GARD:0006670,Rare ophthalmic disorder +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0008310,Rare genetic disease +GARD:0019507,GARD:0022531,GARD:0022161,GARD:0020593,Rare genetic disease +GARD:0019508,GARD:0022531,GARD:0022159,GARD:0000333,Rare genetic disease +GARD:0019508,GARD:0022513,GARD:0016857,GARD:0000333,Rare developmental defect during embryogenesis +GARD:0019508,GARD:0022520,GARD:0022079,GARD:0000333,Rare ophthalmic disorder +GARD:0019508,GARD:0022513,GARD:0016857,GARD:0016899,Rare developmental defect during embryogenesis +GARD:0019508,GARD:0022531,GARD:0020298,GARD:0016899,Rare genetic disease +GARD:0019508,GARD:0022531,GARD:0022159,GARD:0016899,Rare genetic disease +GARD:0019508,GARD:0022531,GARD:0020298,GARD:0000333,Rare genetic disease +GARD:0019508,GARD:0022520,GARD:0022079,GARD:0016899,Rare ophthalmic disorder +GARD:0019509,GARD:0022520,GARD:0022079,GARD:0022078,Rare ophthalmic disorder +GARD:0019509,GARD:0022520,GARD:0022079,GARD:0019511,Rare ophthalmic disorder +GARD:0019509,GARD:0022520,GARD:0022079,GARD:0019510,Rare ophthalmic disorder +GARD:0019509,GARD:0022520,GARD:0022079,GARD:0019512,Rare ophthalmic disorder +GARD:0019510,GARD:0022520,GARD:0019509,GARD:0007581,Rare ophthalmic disorder +GARD:0019510,GARD:0022520,GARD:0019509,GARD:0009936,Rare ophthalmic disorder +GARD:0019510,GARD:0022531,GARD:0022163,GARD:0000457,Rare genetic disease +GARD:0019510,GARD:0022531,GARD:0022163,GARD:0016799,Rare genetic disease +GARD:0019510,GARD:0022520,GARD:0019509,GARD:0000457,Rare ophthalmic disorder +GARD:0019510,GARD:0022520,GARD:0019509,GARD:0000076,Rare ophthalmic disorder +GARD:0019510,GARD:0022531,GARD:0022163,GARD:0016759,Rare genetic disease +GARD:0019510,GARD:0022531,GARD:0022163,GARD:0000076,Rare genetic disease +GARD:0019510,GARD:0022531,GARD:0022163,GARD:0017967,Rare genetic disease +GARD:0019510,GARD:0022520,GARD:0019509,GARD:0012315,Rare ophthalmic disorder +GARD:0019510,GARD:0022531,GARD:0022163,GARD:0017326,Rare genetic disease +GARD:0019510,GARD:0022520,GARD:0019509,GARD:0017967,Rare ophthalmic disorder +GARD:0019510,GARD:0022520,GARD:0019509,GARD:0017326,Rare ophthalmic disorder +GARD:0019510,GARD:0022531,GARD:0022163,GARD:0009936,Rare genetic disease +GARD:0019510,GARD:0022520,GARD:0019509,GARD:0016799,Rare ophthalmic disorder +GARD:0019510,GARD:0022531,GARD:0022163,GARD:0007581,Rare genetic disease +GARD:0019510,GARD:0022520,GARD:0019509,GARD:0016759,Rare ophthalmic disorder +GARD:0019510,GARD:0022531,GARD:0022163,GARD:0012315,Rare genetic disease +GARD:0019511,GARD:0022513,GARD:0016857,GARD:0017784,Rare developmental defect during embryogenesis +GARD:0019511,GARD:0022520,GARD:0019509,GARD:0019944,Rare ophthalmic disorder +GARD:0019511,GARD:0022520,GARD:0019509,GARD:0017784,Rare ophthalmic disorder +GARD:0019511,GARD:0022513,GARD:0016857,GARD:0019944,Rare developmental defect during embryogenesis +GARD:0019511,GARD:0022520,GARD:0019509,GARD:0022083,Rare ophthalmic disorder +GARD:0019511,GARD:0022513,GARD:0016857,GARD:0022083,Rare developmental defect during embryogenesis +GARD:0019512,GARD:0022513,GARD:0006317,GARD:0010051,Rare developmental defect during embryogenesis +GARD:0019512,GARD:0022520,GARD:0019509,GARD:0002076,Rare ophthalmic disorder +GARD:0019512,GARD:0022531,GARD:0022163,GARD:0000384,Rare genetic disease +GARD:0019512,GARD:0022513,GARD:0006317,GARD:0006848,Rare developmental defect during embryogenesis +GARD:0019512,GARD:0022531,GARD:0006317,GARD:0000384,Rare genetic disease +GARD:0019512,GARD:0022531,GARD:0022163,GARD:0002076,Rare genetic disease +GARD:0019512,GARD:0022513,GARD:0006317,GARD:0000384,Rare developmental defect during embryogenesis 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disorder +GARD:0019515,GARD:0022531,GARD:0019514,GARD:0016657,Rare genetic disease +GARD:0019516,GARD:0022531,GARD:0019515,GARD:0000634,Rare genetic disease +GARD:0019516,GARD:0022520,GARD:0019515,GARD:0007633,Rare ophthalmic disorder +GARD:0019516,GARD:0022531,GARD:0019515,GARD:0007633,Rare genetic disease +GARD:0019516,GARD:0022520,GARD:0019515,GARD:0000634,Rare ophthalmic disorder +GARD:0019517,GARD:0022520,GARD:0022090,GARD:0007854,Rare ophthalmic disorder +GARD:0019517,GARD:0022520,GARD:0022090,GARD:0000400,Rare ophthalmic disorder +GARD:0019517,GARD:0022520,GARD:0022090,GARD:0016535,Rare ophthalmic disorder +GARD:0019517,GARD:0022520,GARD:0022090,GARD:0017349,Rare ophthalmic disorder +GARD:0019517,GARD:0022520,GARD:0022090,GARD:0010247,Rare ophthalmic disorder +GARD:0019518,GARD:0022520,GARD:0018810,GARD:0017524,Rare ophthalmic disorder +GARD:0019518,GARD:0022520,GARD:0018810,GARD:0009732,Rare ophthalmic disorder +GARD:0019518,GARD:0022520,GARD:0018810,GARD:0016877,Rare ophthalmic disorder +GARD:0019518,GARD:0022520,GARD:0018810,GARD:0016878,Rare ophthalmic disorder +GARD:0019518,GARD:0022520,GARD:0018810,GARD:0009275,Rare ophthalmic disorder +GARD:0019518,GARD:0022520,GARD:0018810,GARD:0021167,Rare ophthalmic disorder +GARD:0019518,GARD:0022520,GARD:0018810,GARD:0009276,Rare ophthalmic disorder +GARD:0019518,GARD:0022520,GARD:0018810,GARD:0009647,Rare ophthalmic disorder +GARD:0019518,GARD:0022520,GARD:0018810,GARD:0019609,Rare ophthalmic disorder +GARD:0019518,GARD:0022520,GARD:0018810,GARD:0017338,Rare ophthalmic disorder +GARD:0019518,GARD:0022520,GARD:0018810,GARD:0009688,Rare ophthalmic disorder +GARD:0019518,GARD:0022520,GARD:0018810,GARD:0017525,Rare ophthalmic disorder +GARD:0019519,GARD:0022531,GARD:0022176,GARD:0009278,Rare genetic disease +GARD:0019519,GARD:0022531,GARD:0022176,GARD:0016943,Rare genetic disease +GARD:0019519,GARD:0022531,GARD:0022176,GARD:0016880,Rare genetic disease 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+GARD:0019520,GARD:0022520,GARD:0018810,GARD:0017339,Rare ophthalmic disorder +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0016539,Rare ophthalmic disorder +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0016756,Rare ophthalmic disorder +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0007904,Rare genetic disease +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0001815,Rare genetic disease +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0016539,Rare genetic disease +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0001529,Rare ophthalmic disorder +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0000212,Rare ophthalmic disorder +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0001531,Rare genetic disease +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0018016,Rare genetic disease +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0004365,Rare ophthalmic disorder +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0000212,Rare genetic disease +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0001815,Rare ophthalmic disorder +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0022010,Rare ophthalmic disorder +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0007904,Rare ophthalmic disorder +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0001531,Rare ophthalmic disorder +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0009756,Rare ophthalmic disorder +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0003524,Rare ophthalmic disorder +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0001525,Rare ophthalmic disorder +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0004365,Rare genetic disease +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0009756,Rare genetic disease +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0000049,Rare ophthalmic disorder +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0001525,Rare genetic disease +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0002339,Rare ophthalmic disorder +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0003524,Rare genetic disease +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0016756,Rare genetic disease +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0002580,Rare ophthalmic disorder +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0002339,Rare genetic disease +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0002580,Rare genetic disease +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0001019,Rare genetic disease +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0001019,Rare ophthalmic disorder +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0018016,Rare ophthalmic disorder +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0000049,Rare genetic disease +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0003795,Rare genetic disease +GARD:0019521,GARD:0022520,GARD:0018810,GARD:0003795,Rare ophthalmic disorder +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0022010,Rare genetic disease +GARD:0019521,GARD:0022531,GARD:0022176,GARD:0001529,Rare genetic disease +GARD:0019522,GARD:0022520,GARD:0022111,GARD:0006121,Rare ophthalmic disorder +GARD:0019522,GARD:0022513,GARD:0016857,GARD:0000060,Rare developmental defect during embryogenesis +GARD:0019522,GARD:0022513,GARD:0016857,GARD:0004690,Rare developmental defect during embryogenesis +GARD:0019522,GARD:0022513,GARD:0016857,GARD:0010942,Rare developmental defect during embryogenesis +GARD:0019522,GARD:0022513,GARD:0016857,GARD:0006121,Rare developmental defect during embryogenesis +GARD:0019522,GARD:0022513,GARD:0016857,GARD:0016882,Rare developmental defect during embryogenesis +GARD:0019522,GARD:0022520,GARD:0022111,GARD:0010942,Rare ophthalmic disorder +GARD:0019522,GARD:0022520,GARD:0022111,GARD:0016484,Rare ophthalmic disorder +GARD:0019522,GARD:0022513,GARD:0016857,GARD:0016484,Rare developmental defect during embryogenesis +GARD:0019522,GARD:0022513,GARD:0016857,GARD:0016637,Rare developmental defect during embryogenesis +GARD:0019522,GARD:0022513,GARD:0016857,GARD:0019245,Rare developmental defect during embryogenesis +GARD:0019522,GARD:0022520,GARD:0022111,GARD:0019245,Rare ophthalmic disorder +GARD:0019522,GARD:0022520,GARD:0022111,GARD:0000060,Rare ophthalmic disorder +GARD:0019522,GARD:0022520,GARD:0022111,GARD:0016637,Rare ophthalmic disorder +GARD:0019522,GARD:0022520,GARD:0022111,GARD:0016882,Rare ophthalmic disorder +GARD:0019522,GARD:0022520,GARD:0022111,GARD:0004690,Rare ophthalmic disorder +GARD:0019523,GARD:0022520,GARD:0022087,GARD:0016800,Rare ophthalmic disorder +GARD:0019523,GARD:0022531,GARD:0022174,GARD:0016800,Rare genetic disease +GARD:0019523,GARD:0022531,GARD:0020298,GARD:0012648,Rare genetic disease +GARD:0019523,GARD:0022531,GARD:0020298,GARD:0016800,Rare genetic disease +GARD:0019523,GARD:0022531,GARD:0022174,GARD:0012648,Rare genetic disease +GARD:0019523,GARD:0022513,GARD:0016857,GARD:0012648,Rare developmental defect during embryogenesis +GARD:0019523,GARD:0022513,GARD:0016857,GARD:0016800,Rare developmental defect during embryogenesis +GARD:0019523,GARD:0022520,GARD:0022087,GARD:0012648,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0008422,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0004931,Rare genetic disease +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0004312,Rare genetic disease +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0016845,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0007633,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0000912,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0004628,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0004931,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0000156,Rare genetic disease +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0010782,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0000156,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0004312,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0007855,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0007065,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0003295,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0003659,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0003300,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0007160,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0002483,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0005120,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0000690,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0007593,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0006475,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0004628,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0007593,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0005701,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0003300,Rare genetic disease +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0006667,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0000912,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0003007,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0007706,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0007160,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0006984,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0007855,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0010782,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0004936,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0005701,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0016845,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0001818,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0006984,Rare genetic disease +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0006475,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0002483,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0003637,Rare genetic disease +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0007706,Rare genetic disease +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0007633,Rare genetic disease +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0000690,Rare genetic disease +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0007065,Rare genetic disease +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0000685,Rare genetic disease +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0001818,Rare genetic disease +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0004936,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0006667,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0000685,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0003007,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0003637,Rare ophthalmic disorder +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0005528,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0003659,Rare genetic disease +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0008422,Rare genetic disease +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0005528,Rare genetic disease +GARD:0019524,GARD:0022520,GARD:0022111,GARD:0003295,Rare ophthalmic disorder +GARD:0019524,GARD:0022531,GARD:0022186,GARD:0005120,Rare genetic disease +GARD:0019525,GARD:0022520,GARD:0022088,GARD:0019536,Rare ophthalmic disorder +GARD:0019525,GARD:0022520,GARD:0022088,GARD:0019535,Rare ophthalmic disorder +GARD:0019525,GARD:0022520,GARD:0022088,GARD:0009952,Rare ophthalmic disorder +GARD:0019525,GARD:0022520,GARD:0022088,GARD:0019534,Rare ophthalmic disorder +GARD:0019525,GARD:0022520,GARD:0022088,GARD:0019526,Rare ophthalmic disorder +GARD:0019525,GARD:0022520,GARD:0022088,GARD:0001433,Rare ophthalmic disorder +GARD:0019526,GARD:0022520,GARD:0019525,GARD:0019527,Rare ophthalmic disorder +GARD:0019526,GARD:0022520,GARD:0019525,GARD:0016801,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0012669,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0005739,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0011980,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0001102,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0000386,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0016740,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0011893,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0001160,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0008466,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0001141,Rare 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ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0007910,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0002806,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0001155,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0003436,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0002910,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0001418,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0000192,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0016811,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0008341,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0004139,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0016803,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0004160,Rare ophthalmic disorder 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ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0019533,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0003929,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0007224,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0000835,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0005554,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0017012,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0019528,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0005427,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0007417,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0004744,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0012109,Rare ophthalmic disorder +GARD:0019527,GARD:0022520,GARD:0019526,GARD:0002601,Rare ophthalmic disorder 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+GARD:0019528,GARD:0022531,GARD:0022170,GARD:0003746,Rare genetic disease +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0016571,Rare genetic disease +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0017423,Rare genetic disease +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0018737,Rare ophthalmic disorder +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0008631,Rare ophthalmic disorder +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0018683,Rare ophthalmic disorder +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0019317,Rare ophthalmic disorder +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0017423,Rare ophthalmic disorder +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0010860,Rare genetic disease +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0019311,Rare ophthalmic disorder +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0019304,Rare ophthalmic disorder +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0005295,Rare genetic disease +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0007831,Rare ophthalmic disorder +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0007341,Rare ophthalmic disorder +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0019317,Rare genetic disease +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0010247,Rare genetic disease +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0018792,Rare genetic disease +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0018683,Rare genetic disease +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0018792,Rare ophthalmic disorder +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0010865,Rare ophthalmic disorder +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0019304,Rare genetic disease +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0016570,Rare ophthalmic disorder +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0006321,Rare genetic disease +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0007896,Rare genetic disease +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0006093,Rare ophthalmic disorder +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0019311,Rare genetic disease +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0006213,Rare genetic disease +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0008631,Rare genetic disease +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0007896,Rare ophthalmic disorder +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0005295,Rare ophthalmic disorder +GARD:0019528,GARD:0022520,GARD:0019527,GARD:0010247,Rare ophthalmic disorder +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0016847,Rare genetic disease +GARD:0019528,GARD:0022531,GARD:0022170,GARD:0016570,Rare genetic disease +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0009711,Rare ophthalmic disorder +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0010342,Rare genetic disease +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0006400,Rare genetic disease +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0000156,Rare genetic disease +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0005691,Rare ophthalmic disorder +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0005622,Rare genetic disease +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0010342,Rare ophthalmic disorder +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0017767,Rare genetic disease +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0000049,Rare genetic disease +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0006556,Rare ophthalmic disorder +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0002424,Rare ophthalmic disorder +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0006475,Rare ophthalmic disorder +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0013319,Rare genetic disease +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0018033,Rare genetic disease +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0003979,Rare genetic disease +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0006968,Rare genetic disease +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0006667,Rare genetic disease +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0002424,Rare genetic disease +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0009836,Rare genetic disease +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0009836,Rare ophthalmic disorder +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0006400,Rare ophthalmic disorder +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0009834,Rare genetic disease +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0000005,Rare genetic disease +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0005691,Rare genetic disease +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0006475,Rare genetic disease +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0003807,Rare ophthalmic disorder +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0000559,Rare ophthalmic disorder +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0003979,Rare ophthalmic disorder +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0000049,Rare ophthalmic disorder +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0013319,Rare ophthalmic disorder +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0005061,Rare genetic disease +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0003903,Rare ophthalmic disorder +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0006667,Rare ophthalmic disorder +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0008422,Rare genetic disease +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0003903,Rare genetic disease +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0008422,Rare ophthalmic disorder +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0017767,Rare ophthalmic disorder +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0018033,Rare ophthalmic disorder +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0009834,Rare ophthalmic disorder +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0003807,Rare genetic disease +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0005622,Rare ophthalmic disorder +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0003588,Rare ophthalmic disorder +GARD:0019529,GARD:0022531,GARD:0022170,GARD:0000559,Rare genetic disease +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0006968,Rare ophthalmic disorder +GARD:0019529,GARD:0022520,GARD:0019527,GARD:0005061,Rare ophthalmic disorder 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ophthalmic disorder +GARD:0019536,GARD:0022531,GARD:0020308,GARD:0000087,Rare genetic disease +GARD:0019536,GARD:0022531,GARD:0020298,GARD:0005785,Rare genetic disease +GARD:0019536,GARD:0022531,GARD:0020298,GARD:0003436,Rare genetic disease +GARD:0019536,GARD:0022513,GARD:0016857,GARD:0007593,Rare developmental defect during embryogenesis +GARD:0019536,GARD:0022520,GARD:0019525,GARD:0003436,Rare ophthalmic disorder +GARD:0019536,GARD:0022513,GARD:0016857,GARD:0000087,Rare developmental defect during embryogenesis +GARD:0019536,GARD:0022531,GARD:0020298,GARD:0000029,Rare genetic disease +GARD:0019536,GARD:0022513,GARD:0016857,GARD:0006457,Rare developmental defect during embryogenesis +GARD:0019536,GARD:0022513,GARD:0016857,GARD:0003436,Rare developmental defect during embryogenesis +GARD:0019536,GARD:0022520,GARD:0019525,GARD:0007593,Rare ophthalmic disorder +GARD:0019536,GARD:0022531,GARD:0020298,GARD:0006457,Rare genetic disease 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+GARD:0019538,GARD:0022520,GARD:0022108,GARD:0016607,Rare ophthalmic disorder +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0006867,Rare genetic disease +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0005266,Rare ophthalmic disorder +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0008595,Rare genetic disease +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0011890,Rare genetic disease +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0016607,Rare genetic disease +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0017730,Rare genetic disease +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0006866,Rare ophthalmic disorder +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0000262,Rare ophthalmic disorder +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0017130,Rare ophthalmic disorder +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0008600,Rare ophthalmic disorder +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0017071,Rare genetic disease +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0017903,Rare genetic disease +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0000359,Rare genetic disease +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0018776,Rare genetic disease +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0012128,Rare genetic disease +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0000938,Rare ophthalmic disorder +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0011890,Rare ophthalmic disorder +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0000938,Rare genetic disease +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0002417,Rare ophthalmic disorder +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0005266,Rare genetic disease +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0007843,Rare ophthalmic disorder +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0009681,Rare genetic disease +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0003451,Rare ophthalmic disorder +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0006866,Rare genetic disease +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0009681,Rare ophthalmic disorder +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0017071,Rare ophthalmic disorder +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0012635,Rare ophthalmic disorder +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0000005,Rare ophthalmic disorder +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0009280,Rare genetic disease +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0017017,Rare ophthalmic disorder +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0000262,Rare genetic disease +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0012635,Rare genetic disease +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0012128,Rare ophthalmic disorder +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0006817,Rare genetic disease +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0021378,Rare genetic disease +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0003451,Rare genetic disease +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0017903,Rare ophthalmic disorder +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0000322,Rare ophthalmic disorder +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0017255,Rare ophthalmic disorder +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0006126,Rare genetic disease +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0017190,Rare ophthalmic disorder +GARD:0019538,GARD:0022520,GARD:0022108,GARD:0000395,Rare ophthalmic disorder +GARD:0019538,GARD:0022531,GARD:0022108,GARD:0000322,Rare genetic disease +GARD:0019539,GARD:0022531,GARD:0022182,GARD:0022109,Rare genetic disease +GARD:0019539,GARD:0022520,GARD:0022103,GARD:0022109,Rare ophthalmic disorder +GARD:0019539,GARD:0022531,GARD:0022182,GARD:0022098,Rare genetic disease +GARD:0019539,GARD:0022520,GARD:0022103,GARD:0022098,Rare ophthalmic disorder +GARD:0019540,GARD:0022520,GARD:0022120,GARD:0006870,Rare ophthalmic disorder +GARD:0019540,GARD:0022531,GARD:0022153,GARD:0006870,Rare genetic disease +GARD:0019540,GARD:0022520,GARD:0022120,GARD:0008476,Rare ophthalmic disorder +GARD:0019540,GARD:0022531,GARD:0022153,GARD:0021845,Rare genetic disease +GARD:0019540,GARD:0022520,GARD:0022120,GARD:0021845,Rare ophthalmic disorder +GARD:0019540,GARD:0022520,GARD:0022120,GARD:0011972,Rare ophthalmic disorder +GARD:0019540,GARD:0022531,GARD:0022153,GARD:0016860,Rare genetic disease +GARD:0019540,GARD:0022531,GARD:0022153,GARD:0011972,Rare genetic disease +GARD:0019540,GARD:0022520,GARD:0022120,GARD:0016860,Rare ophthalmic disorder +GARD:0019540,GARD:0022531,GARD:0022153,GARD:0008476,Rare genetic disease +GARD:0019541,GARD:0022520,GARD:0022122,GARD:0019542,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0003524,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0012641,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0001313,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0004577,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0002442,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0009182,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000094,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000559,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0006121,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0021817,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000358,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0008341,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0004050,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0005535,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0009487,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0010572,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0018842,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000690,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000371,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0001810,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0018923,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0005862,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0018729,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0002454,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0016616,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0012682,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000971,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0004644,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0013354,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0004497,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0012816,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000594,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000992,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000905,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000192,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0004627,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0006996,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0003596,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0016722,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0017840,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000381,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0006464,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0016909,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0017997,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0016648,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000860,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0009984,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0003903,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000345,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0018791,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0001142,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000269,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000166,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0008520,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0003424,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000156,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0016637,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0012590,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0008549,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0006475,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0018934,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0005238,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0017563,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0000310,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0003449,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0017962,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0019543,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0009124,Rare ophthalmic disorder +GARD:0019542,GARD:0022520,GARD:0019541,GARD:0016630,Rare ophthalmic disorder +GARD:0019543,GARD:0022520,GARD:0019542,GARD:0007598,Rare ophthalmic disorder +GARD:0019543,GARD:0022531,GARD:0022157,GARD:0007598,Rare genetic disease +GARD:0019543,GARD:0022531,GARD:0022157,GARD:0005833,Rare genetic disease +GARD:0019543,GARD:0022520,GARD:0019542,GARD:0007380,Rare ophthalmic disorder +GARD:0019543,GARD:0022520,GARD:0019542,GARD:0016626,Rare ophthalmic disorder +GARD:0019543,GARD:0022520,GARD:0019542,GARD:0016634,Rare ophthalmic disorder +GARD:0019543,GARD:0022531,GARD:0022157,GARD:0016810,Rare genetic disease +GARD:0019543,GARD:0022520,GARD:0019542,GARD:0016810,Rare ophthalmic disorder +GARD:0019543,GARD:0022520,GARD:0019542,GARD:0016633,Rare ophthalmic disorder +GARD:0019543,GARD:0022531,GARD:0022157,GARD:0007380,Rare genetic disease +GARD:0019543,GARD:0022520,GARD:0019542,GARD:0006206,Rare ophthalmic disorder +GARD:0019543,GARD:0022531,GARD:0022157,GARD:0016634,Rare genetic disease +GARD:0019543,GARD:0022531,GARD:0022157,GARD:0016633,Rare genetic disease +GARD:0019543,GARD:0022520,GARD:0019542,GARD:0005833,Rare ophthalmic disorder +GARD:0019543,GARD:0022531,GARD:0022157,GARD:0006206,Rare genetic disease +GARD:0019543,GARD:0022531,GARD:0022157,GARD:0016626,Rare genetic disease +GARD:0019544,GARD:0022520,GARD:0022119,GARD:0021836,Rare ophthalmic disorder +GARD:0019544,GARD:0022531,GARD:0022152,GARD:0021836,Rare genetic disease +GARD:0019545,GARD:0022520,GARD:0022121,,Rare ophthalmic disorder +GARD:0019545,GARD:0022531,GARD:0022121,,Rare genetic disease +GARD:0019546,GARD:0022520,GARD:0022115,GARD:0004955,Rare ophthalmic disorder +GARD:0019546,GARD:0022520,GARD:0022115,GARD:0009174,Rare ophthalmic disorder +GARD:0019546,GARD:0022531,GARD:0022150,GARD:0007471,Rare genetic disease +GARD:0019546,GARD:0022520,GARD:0022115,GARD:0006877,Rare ophthalmic disorder +GARD:0019546,GARD:0022531,GARD:0022150,GARD:0007893,Rare genetic disease +GARD:0019546,GARD:0022531,GARD:0022150,GARD:0004955,Rare genetic disease +GARD:0019546,GARD:0022520,GARD:0022115,GARD:0007207,Rare ophthalmic disorder +GARD:0019546,GARD:0022520,GARD:0022115,GARD:0007893,Rare ophthalmic disorder +GARD:0019546,GARD:0022520,GARD:0022115,GARD:0007471,Rare ophthalmic disorder +GARD:0019546,GARD:0022531,GARD:0022150,GARD:0006877,Rare genetic disease +GARD:0019546,GARD:0022531,GARD:0022150,GARD:0009174,Rare genetic disease +GARD:0019546,GARD:0022531,GARD:0022150,GARD:0007207,Rare genetic disease +GARD:0019547,GARD:0022520,GARD:0022116,GARD:0012504,Rare ophthalmic disorder +GARD:0019547,GARD:0022520,GARD:0022116,GARD:0013111,Rare ophthalmic disorder +GARD:0019547,GARD:0022520,GARD:0022116,GARD:0000016,Rare ophthalmic disorder +GARD:0019547,GARD:0022531,GARD:0022151,GARD:0000016,Rare genetic disease +GARD:0019547,GARD:0022520,GARD:0022116,GARD:0017597,Rare ophthalmic disorder +GARD:0019547,GARD:0022531,GARD:0022151,GARD:0012504,Rare genetic disease +GARD:0019547,GARD:0022531,GARD:0022151,GARD:0002443,Rare genetic disease +GARD:0019547,GARD:0022531,GARD:0022151,GARD:0013111,Rare genetic disease +GARD:0019547,GARD:0022531,GARD:0022151,GARD:0017597,Rare genetic disease +GARD:0019547,GARD:0022531,GARD:0022151,GARD:0017943,Rare genetic disease +GARD:0019547,GARD:0022520,GARD:0022116,GARD:0017943,Rare ophthalmic disorder +GARD:0019547,GARD:0022520,GARD:0022116,GARD:0002443,Rare ophthalmic disorder +GARD:0019548,GARD:0022520,GARD:0022110,GARD:0010958,Rare ophthalmic disorder +GARD:0019548,GARD:0022531,GARD:0022185,GARD:0021124,Rare genetic disease +GARD:0019548,GARD:0022520,GARD:0022110,GARD:0021125,Rare ophthalmic disorder +GARD:0019548,GARD:0022520,GARD:0022110,GARD:0021124,Rare ophthalmic disorder +GARD:0019548,GARD:0022531,GARD:0022185,GARD:0021125,Rare genetic disease +GARD:0019548,GARD:0022531,GARD:0022185,GARD:0010958,Rare genetic disease +GARD:0019549,GARD:0022520,GARD:0022135,GARD:0008577,Rare ophthalmic disorder +GARD:0019549,GARD:0022520,GARD:0022135,GARD:0004457,Rare ophthalmic disorder +GARD:0019549,GARD:0022520,GARD:0022135,GARD:0021065,Rare ophthalmic disorder +GARD:0019549,GARD:0022520,GARD:0022135,GARD:0010941,Rare ophthalmic disorder +GARD:0019550,GARD:0022513,GARD:0019094,GARD:0010875,Rare developmental defect during embryogenesis +GARD:0019550,GARD:0022513,GARD:0019094,GARD:0019259,Rare developmental defect during embryogenesis +GARD:0019550,GARD:0022519,GARD:0019094,GARD:0010875,Rare surgical cardiac disease +GARD:0019550,GARD:0022519,GARD:0019094,GARD:0019259,Rare surgical cardiac disease +GARD:0019551,GARD:0022513,GARD:0019094,GARD:0008189,Rare developmental defect during embryogenesis +GARD:0019551,GARD:0022513,GARD:0019094,GARD:0019552,Rare developmental defect during embryogenesis +GARD:0019551,GARD:0022519,GARD:0019094,GARD:0019553,Rare surgical cardiac disease +GARD:0019551,GARD:0022519,GARD:0019094,GARD:0019552,Rare surgical cardiac disease +GARD:0019551,GARD:0022513,GARD:0019094,GARD:0019553,Rare developmental defect during embryogenesis +GARD:0019551,GARD:0022513,GARD:0019094,GARD:0007795,Rare developmental defect during embryogenesis +GARD:0019551,GARD:0022519,GARD:0019094,GARD:0008189,Rare surgical cardiac disease +GARD:0019551,GARD:0022519,GARD:0019094,GARD:0007795,Rare surgical cardiac disease +GARD:0019552,GARD:0022519,GARD:0019556,GARD:0018786,Rare surgical cardiac disease +GARD:0019552,GARD:0022519,GARD:0019556,GARD:0017670,Rare surgical cardiac disease +GARD:0019552,GARD:0022519,GARD:0019551,GARD:0017670,Rare surgical cardiac disease +GARD:0019552,GARD:0022513,GARD:0019556,GARD:0005828,Rare developmental defect during embryogenesis +GARD:0019552,GARD:0022513,GARD:0019551,GARD:0000740,Rare developmental defect during embryogenesis +GARD:0019552,GARD:0022519,GARD:0019556,GARD:0016619,Rare surgical cardiac disease +GARD:0019552,GARD:0022513,GARD:0019551,GARD:0005828,Rare developmental defect during embryogenesis +GARD:0019552,GARD:0022513,GARD:0019556,GARD:0018786,Rare developmental defect during embryogenesis +GARD:0019552,GARD:0022527,GARD:0019556,GARD:0005828,Rare circulatory system disease +GARD:0019552,GARD:0022513,GARD:0019551,GARD:0022229,Rare developmental defect during embryogenesis +GARD:0019552,GARD:0022519,GARD:0019556,GARD:0000740,Rare surgical cardiac disease +GARD:0019552,GARD:0022519,GARD:0019551,GARD:0005828,Rare surgical cardiac disease +GARD:0019552,GARD:0022519,GARD:0019551,GARD:0000740,Rare surgical cardiac disease +GARD:0019552,GARD:0022513,GARD:0019556,GARD:0022229,Rare developmental defect during embryogenesis +GARD:0019552,GARD:0022513,GARD:0019551,GARD:0017670,Rare developmental defect during embryogenesis +GARD:0019552,GARD:0022527,GARD:0019556,GARD:0000740,Rare circulatory system disease +GARD:0019552,GARD:0022513,GARD:0019556,GARD:0017670,Rare developmental defect during embryogenesis +GARD:0019552,GARD:0022519,GARD:0019556,GARD:0000743,Rare surgical cardiac disease +GARD:0019552,GARD:0022519,GARD:0019551,GARD:0018786,Rare surgical cardiac disease +GARD:0019552,GARD:0022527,GARD:0019556,GARD:0016619,Rare circulatory system disease +GARD:0019552,GARD:0022527,GARD:0019556,GARD:0017670,Rare circulatory system disease +GARD:0019552,GARD:0022527,GARD:0019556,GARD:0022229,Rare circulatory system disease +GARD:0019552,GARD:0022527,GARD:0019556,GARD:0000743,Rare circulatory system disease +GARD:0019552,GARD:0022513,GARD:0019551,GARD:0016619,Rare developmental defect during embryogenesis +GARD:0019552,GARD:0022519,GARD:0019551,GARD:0016619,Rare surgical cardiac disease +GARD:0019552,GARD:0022513,GARD:0019556,GARD:0016619,Rare developmental defect during embryogenesis +GARD:0019552,GARD:0022519,GARD:0019551,GARD:0000743,Rare surgical cardiac disease +GARD:0019552,GARD:0022527,GARD:0019556,GARD:0018786,Rare circulatory system disease +GARD:0019552,GARD:0022519,GARD:0019551,GARD:0022229,Rare surgical cardiac disease +GARD:0019552,GARD:0022519,GARD:0019556,GARD:0022229,Rare surgical cardiac disease +GARD:0019552,GARD:0022513,GARD:0019551,GARD:0018786,Rare developmental defect during embryogenesis +GARD:0019552,GARD:0022513,GARD:0019551,GARD:0000743,Rare developmental defect during embryogenesis +GARD:0019552,GARD:0022513,GARD:0019556,GARD:0000740,Rare developmental defect during embryogenesis +GARD:0019552,GARD:0022513,GARD:0019556,GARD:0000743,Rare developmental defect during embryogenesis +GARD:0019552,GARD:0022519,GARD:0019556,GARD:0005828,Rare surgical cardiac disease +GARD:0019553,GARD:0022527,GARD:0019556,GARD:0006757,Rare circulatory system disease +GARD:0019553,GARD:0022527,GARD:0019556,GARD:0016623,Rare circulatory system disease +GARD:0019553,GARD:0022513,GARD:0019556,GARD:0004589,Rare developmental defect during embryogenesis +GARD:0019553,GARD:0022519,GARD:0019551,GARD:0018712,Rare surgical cardiac disease +GARD:0019553,GARD:0022513,GARD:0019551,GARD:0004597,Rare developmental defect during embryogenesis +GARD:0019553,GARD:0022513,GARD:0019551,GARD:0006757,Rare developmental defect during embryogenesis +GARD:0019553,GARD:0022513,GARD:0019556,GARD:0004600,Rare developmental defect during embryogenesis +GARD:0019553,GARD:0022519,GARD:0019556,GARD:0016623,Rare surgical cardiac disease +GARD:0019553,GARD:0022519,GARD:0019551,GARD:0004600,Rare surgical cardiac disease +GARD:0019553,GARD:0022519,GARD:0019551,GARD:0016623,Rare surgical cardiac disease +GARD:0019553,GARD:0022513,GARD:0019551,GARD:0018712,Rare developmental defect during embryogenesis +GARD:0019553,GARD:0022519,GARD:0019556,GARD:0018712,Rare surgical cardiac disease +GARD:0019553,GARD:0022527,GARD:0019556,GARD:0004589,Rare circulatory system disease +GARD:0019553,GARD:0022519,GARD:0019556,GARD:0004600,Rare surgical cardiac disease +GARD:0019553,GARD:0022513,GARD:0019556,GARD:0019642,Rare developmental defect during embryogenesis +GARD:0019553,GARD:0022513,GARD:0019551,GARD:0004600,Rare developmental defect during embryogenesis +GARD:0019553,GARD:0022519,GARD:0019551,GARD:0019642,Rare surgical cardiac disease +GARD:0019553,GARD:0022513,GARD:0019556,GARD:0016623,Rare developmental defect during embryogenesis +GARD:0019553,GARD:0022513,GARD:0019556,GARD:0006757,Rare developmental defect during embryogenesis +GARD:0019553,GARD:0022519,GARD:0019556,GARD:0004597,Rare surgical cardiac disease +GARD:0019553,GARD:0022527,GARD:0019556,GARD:0004600,Rare circulatory system disease +GARD:0019553,GARD:0022513,GARD:0019551,GARD:0004589,Rare developmental defect during embryogenesis +GARD:0019553,GARD:0022527,GARD:0019556,GARD:0018712,Rare circulatory system disease +GARD:0019553,GARD:0022513,GARD:0019551,GARD:0019642,Rare developmental defect during embryogenesis +GARD:0019553,GARD:0022519,GARD:0019551,GARD:0004597,Rare surgical cardiac disease +GARD:0019553,GARD:0022527,GARD:0019556,GARD:0004597,Rare circulatory system disease +GARD:0019553,GARD:0022519,GARD:0019556,GARD:0004589,Rare surgical cardiac disease +GARD:0019553,GARD:0022519,GARD:0019551,GARD:0004589,Rare surgical cardiac disease +GARD:0019553,GARD:0022519,GARD:0019556,GARD:0019642,Rare surgical cardiac disease +GARD:0019553,GARD:0022513,GARD:0019556,GARD:0004597,Rare developmental defect during embryogenesis +GARD:0019553,GARD:0022527,GARD:0019556,GARD:0019642,Rare circulatory system disease +GARD:0019553,GARD:0022519,GARD:0019551,GARD:0006757,Rare surgical cardiac disease +GARD:0019553,GARD:0022513,GARD:0019556,GARD:0018712,Rare developmental defect during embryogenesis +GARD:0019553,GARD:0022513,GARD:0019551,GARD:0016623,Rare developmental defect during embryogenesis +GARD:0019553,GARD:0022519,GARD:0019556,GARD:0006757,Rare surgical cardiac disease +GARD:0019554,GARD:0022519,GARD:0019094,GARD:0000802,Rare surgical cardiac disease +GARD:0019554,GARD:0022513,GARD:0019094,GARD:0001096,Rare developmental defect during embryogenesis +GARD:0019554,GARD:0022513,GARD:0019094,GARD:0000802,Rare developmental defect during embryogenesis +GARD:0019554,GARD:0022519,GARD:0019094,GARD:0001495,Rare surgical cardiac disease +GARD:0019554,GARD:0022513,GARD:0019094,GARD:0019555,Rare developmental defect during embryogenesis +GARD:0019554,GARD:0022519,GARD:0019094,GARD:0001096,Rare surgical cardiac disease +GARD:0019554,GARD:0022513,GARD:0019094,GARD:0001495,Rare developmental defect during embryogenesis +GARD:0019554,GARD:0022519,GARD:0019094,GARD:0019555,Rare surgical cardiac disease +GARD:0019555,GARD:0022513,GARD:0019554,GARD:0022241,Rare developmental defect during embryogenesis +GARD:0019555,GARD:0022513,GARD:0019554,GARD:0019262,Rare developmental defect during embryogenesis +GARD:0019555,GARD:0022513,GARD:0019554,GARD:0005274,Rare developmental defect during embryogenesis +GARD:0019555,GARD:0022519,GARD:0019554,GARD:0019261,Rare surgical cardiac disease +GARD:0019555,GARD:0022519,GARD:0019554,GARD:0005274,Rare surgical cardiac disease +GARD:0019555,GARD:0022519,GARD:0019554,GARD:0019263,Rare surgical cardiac disease +GARD:0019555,GARD:0022519,GARD:0019554,GARD:0006313,Rare surgical cardiac disease +GARD:0019555,GARD:0022519,GARD:0019554,GARD:0019262,Rare surgical cardiac disease +GARD:0019555,GARD:0022519,GARD:0019554,GARD:0019264,Rare surgical cardiac disease +GARD:0019555,GARD:0022513,GARD:0019554,GARD:0006313,Rare developmental defect during embryogenesis +GARD:0019555,GARD:0022513,GARD:0019554,GARD:0019264,Rare developmental defect during embryogenesis +GARD:0019555,GARD:0022519,GARD:0019554,GARD:0022241,Rare surgical cardiac disease +GARD:0019555,GARD:0022513,GARD:0019554,GARD:0019265,Rare developmental defect during embryogenesis +GARD:0019555,GARD:0022513,GARD:0019554,GARD:0019263,Rare developmental defect during embryogenesis +GARD:0019555,GARD:0022513,GARD:0019554,GARD:0019261,Rare developmental defect during embryogenesis +GARD:0019555,GARD:0022519,GARD:0019554,GARD:0019265,Rare surgical cardiac disease +GARD:0019556,GARD:0022513,GARD:0019094,GARD:0018680,Rare developmental defect during embryogenesis +GARD:0019556,GARD:0022513,GARD:0021917,GARD:0019270,Rare developmental defect during embryogenesis +GARD:0019556,GARD:0022527,GARD:0021917,GARD:0019553,Rare circulatory system disease +GARD:0019556,GARD:0022519,GARD:0019094,GARD:0000741,Rare surgical cardiac disease +GARD:0019556,GARD:0022527,GARD:0021917,GARD:0004598,Rare circulatory system disease +GARD:0019556,GARD:0022513,GARD:0021917,GARD:0018680,Rare developmental defect during embryogenesis +GARD:0019556,GARD:0022513,GARD:0019094,GARD:0000741,Rare developmental defect during embryogenesis +GARD:0019556,GARD:0022527,GARD:0021917,GARD:0019270,Rare circulatory system disease +GARD:0019556,GARD:0022513,GARD:0021917,GARD:0019557,Rare developmental defect during embryogenesis +GARD:0019556,GARD:0022513,GARD:0019094,GARD:0019557,Rare developmental defect during embryogenesis +GARD:0019556,GARD:0022519,GARD:0019094,GARD:0019552,Rare surgical cardiac disease +GARD:0019556,GARD:0022519,GARD:0019094,GARD:0019270,Rare surgical cardiac disease +GARD:0019556,GARD:0022519,GARD:0019094,GARD:0019553,Rare surgical cardiac disease +GARD:0019556,GARD:0022519,GARD:0019094,GARD:0019557,Rare surgical cardiac disease +GARD:0019556,GARD:0022513,GARD:0019094,GARD:0004598,Rare developmental defect during embryogenesis +GARD:0019556,GARD:0022527,GARD:0021917,GARD:0019552,Rare circulatory system disease +GARD:0019556,GARD:0022519,GARD:0019094,GARD:0004598,Rare surgical cardiac disease +GARD:0019556,GARD:0022527,GARD:0021917,GARD:0018680,Rare circulatory system disease +GARD:0019556,GARD:0022513,GARD:0021917,GARD:0004598,Rare developmental defect during embryogenesis +GARD:0019556,GARD:0022513,GARD:0019094,GARD:0019553,Rare developmental defect during embryogenesis +GARD:0019556,GARD:0022527,GARD:0021917,GARD:0019557,Rare circulatory system disease +GARD:0019556,GARD:0022513,GARD:0021917,GARD:0000741,Rare developmental defect during embryogenesis +GARD:0019556,GARD:0022513,GARD:0019094,GARD:0019552,Rare developmental defect during embryogenesis +GARD:0019556,GARD:0022519,GARD:0019094,GARD:0018680,Rare surgical cardiac disease +GARD:0019556,GARD:0022513,GARD:0021917,GARD:0019553,Rare developmental defect during embryogenesis +GARD:0019556,GARD:0022527,GARD:0021917,GARD:0000741,Rare circulatory system disease +GARD:0019556,GARD:0022513,GARD:0021917,GARD:0019552,Rare developmental defect during embryogenesis +GARD:0019556,GARD:0022513,GARD:0019094,GARD:0019270,Rare developmental defect during embryogenesis +GARD:0019557,GARD:0022513,GARD:0019556,GARD:0000670,Rare developmental defect during embryogenesis +GARD:0019557,GARD:0022527,GARD:0019556,GARD:0018798,Rare circulatory system disease +GARD:0019557,GARD:0022519,GARD:0019556,GARD:0018798,Rare surgical cardiac disease +GARD:0019557,GARD:0022519,GARD:0019556,GARD:0000670,Rare surgical cardiac disease +GARD:0019557,GARD:0022527,GARD:0019556,GARD:0018786,Rare circulatory system disease +GARD:0019557,GARD:0022513,GARD:0019556,GARD:0018798,Rare developmental defect during embryogenesis +GARD:0019557,GARD:0022527,GARD:0019556,GARD:0000670,Rare circulatory system disease +GARD:0019557,GARD:0022513,GARD:0019556,GARD:0018786,Rare developmental defect during embryogenesis +GARD:0019557,GARD:0022519,GARD:0019556,GARD:0018786,Rare surgical cardiac disease +GARD:0019558,GARD:0022513,GARD:0019094,GARD:0018735,Rare developmental defect during embryogenesis +GARD:0019558,GARD:0022519,GARD:0019094,GARD:0022302,Rare surgical cardiac disease +GARD:0019558,GARD:0022513,GARD:0019094,GARD:0015018,Rare developmental defect during embryogenesis +GARD:0019558,GARD:0022519,GARD:0019094,GARD:0019651,Rare surgical cardiac disease +GARD:0019558,GARD:0022519,GARD:0019094,GARD:0015018,Rare surgical cardiac disease +GARD:0019558,GARD:0022519,GARD:0019094,GARD:0019283,Rare surgical cardiac disease +GARD:0019558,GARD:0022513,GARD:0019094,GARD:0019283,Rare developmental defect during embryogenesis +GARD:0019558,GARD:0022519,GARD:0019094,GARD:0006194,Rare surgical cardiac disease +GARD:0019558,GARD:0022513,GARD:0019094,GARD:0022302,Rare developmental defect during embryogenesis +GARD:0019558,GARD:0022513,GARD:0019094,GARD:0006194,Rare developmental defect during embryogenesis +GARD:0019558,GARD:0022519,GARD:0019094,GARD:0018735,Rare surgical cardiac disease +GARD:0019558,GARD:0022513,GARD:0019094,GARD:0019651,Rare developmental defect during embryogenesis +GARD:0019559,GARD:0022527,GARD:0021541,GARD:0004599,Rare circulatory system disease +GARD:0019559,GARD:0022527,GARD:0021541,GARD:0018680,Rare circulatory system disease +GARD:0019559,GARD:0022519,GARD:0021541,GARD:0004599,Rare surgical cardiac disease +GARD:0019559,GARD:0022513,GARD:0021541,GARD:0004599,Rare developmental defect during embryogenesis +GARD:0019559,GARD:0022519,GARD:0021541,GARD:0018680,Rare surgical cardiac disease +GARD:0019559,GARD:0022513,GARD:0021541,GARD:0018680,Rare developmental defect during embryogenesis +GARD:0019560,GARD:0022527,GARD:0020460,GARD:0018758,Rare circulatory system disease +GARD:0019560,GARD:0022513,GARD:0020460,GARD:0018758,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022531,GARD:0020299,GARD:0017577,Rare genetic disease +GARD:0019561,GARD:0022513,GARD:0020003,GARD:0010955,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022531,GARD:0020003,GARD:0001100,Rare genetic disease +GARD:0019561,GARD:0022531,GARD:0020003,GARD:0010955,Rare genetic disease +GARD:0019561,GARD:0022513,GARD:0019902,GARD:0000372,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022531,GARD:0022213,GARD:0001100,Rare genetic disease +GARD:0019561,GARD:0022531,GARD:0020003,GARD:0010719,Rare genetic disease +GARD:0019561,GARD:0022513,GARD:0019902,GARD:0009146,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022531,GARD:0020003,GARD:0009146,Rare genetic disease +GARD:0019561,GARD:0022531,GARD:0020003,GARD:0017577,Rare genetic disease +GARD:0019561,GARD:0022513,GARD:0019902,GARD:0010955,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022531,GARD:0022213,GARD:0001550,Rare genetic disease +GARD:0019561,GARD:0022519,GARD:0020003,GARD:0017577,Rare surgical cardiac disease +GARD:0019561,GARD:0022513,GARD:0020003,GARD:0017577,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022531,GARD:0020299,GARD:0010719,Rare genetic disease +GARD:0019561,GARD:0022519,GARD:0020003,GARD:0010955,Rare surgical cardiac disease +GARD:0019561,GARD:0022513,GARD:0020003,GARD:0000372,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022519,GARD:0020003,GARD:0009146,Rare surgical cardiac disease +GARD:0019561,GARD:0022531,GARD:0020299,GARD:0009146,Rare genetic disease +GARD:0019561,GARD:0022513,GARD:0019902,GARD:0001100,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022531,GARD:0022213,GARD:0010719,Rare genetic disease +GARD:0019561,GARD:0022513,GARD:0019902,GARD:0010719,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022519,GARD:0020003,GARD:0001100,Rare surgical cardiac disease +GARD:0019561,GARD:0022531,GARD:0020299,GARD:0000372,Rare genetic disease +GARD:0019561,GARD:0022531,GARD:0022213,GARD:0010955,Rare genetic disease +GARD:0019561,GARD:0022519,GARD:0020003,GARD:0001550,Rare surgical cardiac disease +GARD:0019561,GARD:0022531,GARD:0020299,GARD:0001550,Rare genetic disease +GARD:0019561,GARD:0022531,GARD:0020003,GARD:0000372,Rare genetic disease +GARD:0019561,GARD:0022513,GARD:0020003,GARD:0010719,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022531,GARD:0020299,GARD:0010955,Rare genetic disease +GARD:0019561,GARD:0022519,GARD:0020003,GARD:0010719,Rare surgical cardiac disease +GARD:0019561,GARD:0022531,GARD:0020299,GARD:0001100,Rare genetic disease +GARD:0019561,GARD:0022513,GARD:0020003,GARD:0001550,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022513,GARD:0020003,GARD:0001100,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022513,GARD:0020003,GARD:0009146,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022531,GARD:0020003,GARD:0001550,Rare genetic disease +GARD:0019561,GARD:0022519,GARD:0020003,GARD:0000372,Rare surgical cardiac disease +GARD:0019561,GARD:0022531,GARD:0022213,GARD:0009146,Rare genetic disease +GARD:0019561,GARD:0022531,GARD:0022213,GARD:0017577,Rare genetic disease +GARD:0019561,GARD:0022513,GARD:0019902,GARD:0017577,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022513,GARD:0019902,GARD:0001550,Rare developmental defect during embryogenesis +GARD:0019561,GARD:0022531,GARD:0022213,GARD:0000372,Rare genetic disease +GARD:0019562,GARD:0022531,GARD:0020279,GARD:0019566,Rare genetic disease +GARD:0019562,GARD:0022531,GARD:0020279,GARD:0019564,Rare genetic disease +GARD:0019562,GARD:0022524,GARD:0018917,GARD:0019565,Rare neurologic disease +GARD:0019562,GARD:0022524,GARD:0018917,GARD:0019563,Rare neurologic disease +GARD:0019562,GARD:0022531,GARD:0020279,GARD:0019563,Rare genetic disease +GARD:0019562,GARD:0022524,GARD:0018917,GARD:0019564,Rare neurologic disease +GARD:0019562,GARD:0022524,GARD:0018917,GARD:0019566,Rare neurologic disease +GARD:0019562,GARD:0022531,GARD:0020279,GARD:0019567,Rare genetic disease +GARD:0019562,GARD:0022531,GARD:0020279,GARD:0019565,Rare genetic disease +GARD:0019562,GARD:0022524,GARD:0018917,GARD:0019567,Rare neurologic disease +GARD:0019563,GARD:0022531,GARD:0019562,GARD:0016075,Rare genetic disease +GARD:0019563,GARD:0022524,GARD:0019562,GARD:0000787,Rare neurologic disease +GARD:0019563,GARD:0022524,GARD:0019562,GARD:0016556,Rare neurologic disease +GARD:0019563,GARD:0022524,GARD:0019562,GARD:0017609,Rare neurologic disease +GARD:0019563,GARD:0022531,GARD:0019562,GARD:0004459,Rare genetic disease +GARD:0019563,GARD:0022524,GARD:0019562,GARD:0006729,Rare neurologic disease +GARD:0019563,GARD:0022531,GARD:0019562,GARD:0007325,Rare genetic disease +GARD:0019563,GARD:0022524,GARD:0019562,GARD:0000195,Rare neurologic disease +GARD:0019563,GARD:0022531,GARD:0019562,GARD:0000787,Rare genetic disease +GARD:0019563,GARD:0022531,GARD:0019562,GARD:0016556,Rare genetic disease +GARD:0019563,GARD:0022524,GARD:0019562,GARD:0007325,Rare neurologic disease +GARD:0019563,GARD:0022531,GARD:0019562,GARD:0015022,Rare genetic disease +GARD:0019563,GARD:0022531,GARD:0019562,GARD:0000195,Rare genetic disease +GARD:0019563,GARD:0022531,GARD:0019562,GARD:0017609,Rare genetic disease +GARD:0019563,GARD:0022524,GARD:0019562,GARD:0004459,Rare neurologic disease +GARD:0019563,GARD:0022524,GARD:0019562,GARD:0006466,Rare neurologic disease +GARD:0019563,GARD:0022524,GARD:0019562,GARD:0015022,Rare neurologic disease +GARD:0019563,GARD:0022531,GARD:0019562,GARD:0006466,Rare genetic disease +GARD:0019563,GARD:0022524,GARD:0019562,GARD:0016075,Rare neurologic disease +GARD:0019563,GARD:0022531,GARD:0019562,GARD:0006729,Rare genetic disease +GARD:0019564,GARD:0022524,GARD:0019562,GARD:0012301,Rare neurologic disease +GARD:0019564,GARD:0022531,GARD:0019562,GARD:0012301,Rare genetic disease +GARD:0019565,GARD:0022531,GARD:0019562,GARD:0006729,Rare genetic disease +GARD:0019565,GARD:0022524,GARD:0019562,GARD:0006729,Rare neurologic disease +GARD:0019565,GARD:0022524,GARD:0019562,GARD:0021635,Rare neurologic disease +GARD:0019565,GARD:0022531,GARD:0019562,GARD:0021635,Rare genetic disease +GARD:0019566,GARD:0022531,GARD:0019562,GARD:0007139,Rare genetic disease +GARD:0019566,GARD:0022524,GARD:0019562,GARD:0009453,Rare neurologic disease +GARD:0019566,GARD:0022524,GARD:0019562,GARD:0001512,Rare neurologic disease +GARD:0019566,GARD:0022524,GARD:0019562,GARD:0006729,Rare neurologic disease +GARD:0019566,GARD:0022531,GARD:0019562,GARD:0009453,Rare genetic disease +GARD:0019566,GARD:0022531,GARD:0019562,GARD:0006729,Rare genetic disease +GARD:0019566,GARD:0022531,GARD:0019562,GARD:0001512,Rare genetic disease +GARD:0019566,GARD:0022524,GARD:0019562,GARD:0007139,Rare neurologic disease +GARD:0019567,GARD:0022524,GARD:0019562,GARD:0021445,Rare neurologic disease +GARD:0019567,GARD:0022531,GARD:0019562,GARD:0010316,Rare genetic disease +GARD:0019567,GARD:0022524,GARD:0019562,GARD:0010316,Rare neurologic disease +GARD:0019567,GARD:0022531,GARD:0019562,GARD:0006014,Rare genetic disease +GARD:0019567,GARD:0022524,GARD:0019562,GARD:0006014,Rare neurologic disease +GARD:0019567,GARD:0022524,GARD:0019562,GARD:0012718,Rare neurologic disease +GARD:0019567,GARD:0022524,GARD:0019562,GARD:0021783,Rare neurologic disease +GARD:0019567,GARD:0022524,GARD:0019562,GARD:0017078,Rare neurologic disease +GARD:0019567,GARD:0022531,GARD:0019562,GARD:0012718,Rare genetic disease +GARD:0019567,GARD:0022531,GARD:0019562,GARD:0017078,Rare genetic disease +GARD:0019567,GARD:0022531,GARD:0019562,GARD:0008433,Rare genetic disease +GARD:0019567,GARD:0022524,GARD:0019562,GARD:0008433,Rare neurologic disease +GARD:0019567,GARD:0022524,GARD:0019562,GARD:0006964,Rare neurologic disease +GARD:0019567,GARD:0022531,GARD:0019562,GARD:0021783,Rare genetic disease +GARD:0019567,GARD:0022531,GARD:0019562,GARD:0006964,Rare genetic disease +GARD:0019567,GARD:0022531,GARD:0019562,GARD:0021445,Rare genetic disease +GARD:0019568,GARD:0022531,GARD:0018915,GARD:0019571,Rare genetic disease +GARD:0019568,GARD:0022531,GARD:0018915,GARD:0019573,Rare genetic disease +GARD:0019568,GARD:0022531,GARD:0018915,GARD:0019572,Rare genetic disease +GARD:0019568,GARD:0022531,GARD:0018915,GARD:0019570,Rare genetic disease +GARD:0019568,GARD:0022531,GARD:0018915,GARD:0022219,Rare genetic disease +GARD:0019568,GARD:0022531,GARD:0018915,GARD:0019569,Rare genetic disease +GARD:0019568,GARD:0022531,GARD:0018915,GARD:0019574,Rare genetic disease +GARD:0019569,GARD:0022531,GARD:0019568,GARD:0001518,Rare genetic disease +GARD:0019569,GARD:0022531,GARD:0019568,GARD:0018641,Rare genetic disease +GARD:0019569,GARD:0022531,GARD:0019568,GARD:0006729,Rare genetic disease +GARD:0019569,GARD:0022531,GARD:0019568,GARD:0000857,Rare genetic disease +GARD:0019569,GARD:0022531,GARD:0019568,GARD:0009912,Rare genetic disease +GARD:0019569,GARD:0022531,GARD:0019568,GARD:0012919,Rare genetic disease +GARD:0019569,GARD:0022531,GARD:0019568,GARD:0008553,Rare genetic disease +GARD:0019569,GARD:0022531,GARD:0019568,GARD:0015028,Rare genetic disease +GARD:0019569,GARD:0022531,GARD:0019568,GARD:0010430,Rare genetic disease +GARD:0019569,GARD:0022531,GARD:0019568,GARD:0007887,Rare genetic disease +GARD:0019569,GARD:0022531,GARD:0019568,GARD:0009255,Rare genetic disease +GARD:0019569,GARD:0022531,GARD:0019568,GARD:0010768,Rare genetic disease +GARD:0019570,GARD:0022531,GARD:0019568,GARD:0017811,Rare genetic disease +GARD:0019570,GARD:0022531,GARD:0019568,GARD:0015028,Rare genetic disease +GARD:0019570,GARD:0022531,GARD:0019568,GARD:0009602,Rare genetic disease +GARD:0019570,GARD:0022531,GARD:0019568,GARD:0010768,Rare genetic disease +GARD:0019570,GARD:0022531,GARD:0019568,GARD:0010351,Rare genetic disease +GARD:0019570,GARD:0022531,GARD:0019568,GARD:0016667,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0015028,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0010514,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0009611,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0013060,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0010358,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0011918,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0000857,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0008721,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0001518,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0017716,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0001519,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0012365,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0016641,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0016704,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0009255,Rare genetic disease +GARD:0019571,GARD:0022531,GARD:0019568,GARD:0017715,Rare genetic disease +GARD:0019572,GARD:0022531,GARD:0019568,GARD:0003129,Rare genetic disease +GARD:0019573,GARD:0022531,GARD:0019568,GARD:0011918,Rare genetic disease +GARD:0019574,GARD:0022531,GARD:0019568,GARD:0018641,Rare genetic disease +GARD:0019574,GARD:0022531,GARD:0019568,GARD:0009912,Rare genetic disease +GARD:0019574,GARD:0022531,GARD:0019568,GARD:0010287,Rare genetic disease +GARD:0019574,GARD:0022531,GARD:0019568,GARD:0015028,Rare genetic disease +GARD:0019574,GARD:0022531,GARD:0019568,GARD:0010430,Rare genetic disease +GARD:0019574,GARD:0022531,GARD:0019568,GARD:0016667,Rare genetic disease +GARD:0019574,GARD:0022531,GARD:0019568,GARD:0006808,Rare genetic disease +GARD:0019575,GARD:0022524,GARD:0018917,GARD:0009766,Rare neurologic disease +GARD:0019575,GARD:0022524,GARD:0018917,GARD:0006851,Rare neurologic disease +GARD:0019575,GARD:0022524,GARD:0018917,GARD:0006205,Rare neurologic disease +GARD:0019575,GARD:0022524,GARD:0018917,GARD:0006793,Rare neurologic disease +GARD:0019576,GARD:0022529,GARD:0005575,GARD:0020138,Rare infertility +GARD:0019576,GARD:0022531,GARD:0005575,GARD:0020138,Rare genetic disease +GARD:0019576,GARD:0022531,GARD:0020834,GARD:0020139,Rare genetic disease +GARD:0019576,GARD:0022513,GARD:0005575,GARD:0020139,Rare developmental defect during embryogenesis +GARD:0019576,GARD:0022529,GARD:0005575,GARD:0020139,Rare infertility +GARD:0019576,GARD:0022524,GARD:0005575,GARD:0020139,Rare neurologic disease +GARD:0019576,GARD:0022513,GARD:0020834,GARD:0020139,Rare developmental defect during embryogenesis +GARD:0019576,GARD:0022513,GARD:0005575,GARD:0020138,Rare developmental defect during embryogenesis +GARD:0019576,GARD:0022521,GARD:0005575,GARD:0020138,Rare endocrine disease +GARD:0019576,GARD:0022514,GARD:0005575,GARD:0020138,Rare gynecologic or obstetric disease +GARD:0019576,GARD:0022531,GARD:0005575,GARD:0020139,Rare genetic disease +GARD:0019576,GARD:0022513,GARD:0020834,GARD:0020138,Rare developmental defect during embryogenesis +GARD:0019576,GARD:0022514,GARD:0005575,GARD:0020139,Rare gynecologic or obstetric disease +GARD:0019576,GARD:0022524,GARD:0005575,GARD:0020138,Rare neurologic disease +GARD:0019576,GARD:0022531,GARD:0020834,GARD:0020138,Rare genetic disease +GARD:0019576,GARD:0022521,GARD:0005575,GARD:0020139,Rare endocrine disease +GARD:0019577,GARD:0022524,GARD:0005810,,Rare neurologic disease +GARD:0019577,GARD:0022513,GARD:0005810,,Rare developmental defect during embryogenesis +GARD:0019577,GARD:0022531,GARD:0005810,,Rare genetic disease +GARD:0019577,GARD:0022531,GARD:0020834,,Rare genetic disease +GARD:0019577,GARD:0022513,GARD:0020834,,Rare developmental defect during embryogenesis +GARD:0019578,GARD:0022531,GARD:0005810,,Rare genetic disease +GARD:0019578,GARD:0022513,GARD:0005810,,Rare developmental defect during embryogenesis +GARD:0019578,GARD:0022513,GARD:0019425,,Rare developmental defect during embryogenesis +GARD:0019578,GARD:0022524,GARD:0005810,,Rare neurologic disease +GARD:0019578,GARD:0022531,GARD:0019425,,Rare genetic disease +GARD:0019579,GARD:0022531,GARD:0019349,,Rare genetic disease +GARD:0019579,GARD:0022513,GARD:0019349,,Rare developmental defect during embryogenesis +GARD:0019580,GARD:0022531,GARD:0019349,,Rare genetic disease +GARD:0019580,GARD:0022513,GARD:0019349,,Rare developmental defect during embryogenesis +GARD:0019581,GARD:0022524,GARD:0002170,,Rare neurologic disease +GARD:0019581,GARD:0022531,GARD:0002170,,Rare genetic disease +GARD:0019582,GARD:0022524,GARD:0002170,,Rare neurologic disease +GARD:0019582,GARD:0022531,GARD:0002170,,Rare genetic disease +GARD:0019583,GARD:0022522,GARD:0009351,,Rare hematologic disease +GARD:0019583,GARD:0022535,GARD:0009351,,Rare neoplastic disease +GARD:0019583,GARD:0022536,GARD:0009351,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019584,GARD:0022536,GARD:0009351,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019584,GARD:0022522,GARD:0009351,,Rare hematologic disease +GARD:0019584,GARD:0022535,GARD:0009351,,Rare neoplastic disease +GARD:0019585,GARD:0022522,GARD:0019069,,Rare hematologic disease +GARD:0019585,GARD:0022535,GARD:0019069,,Rare neoplastic disease +GARD:0019585,GARD:0022536,GARD:0019069,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019586,GARD:0022536,GARD:0019069,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019586,GARD:0022522,GARD:0019069,,Rare hematologic disease +GARD:0019586,GARD:0022535,GARD:0019069,,Rare neoplastic disease +GARD:0019587,GARD:0022536,GARD:0012758,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019587,GARD:0022535,GARD:0012758,,Rare neoplastic disease +GARD:0019587,GARD:0022522,GARD:0012758,,Rare hematologic disease +GARD:0019588,GARD:0022536,GARD:0012760,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019588,GARD:0022522,GARD:0012760,,Rare hematologic disease +GARD:0019588,GARD:0022535,GARD:0012760,,Rare neoplastic disease +GARD:0019589,GARD:0022522,GARD:0003178,,Rare hematologic disease +GARD:0019589,GARD:0022535,GARD:0003178,,Rare neoplastic disease +GARD:0019589,GARD:0022536,GARD:0003178,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019590,GARD:0022522,GARD:0003178,,Rare hematologic disease +GARD:0019590,GARD:0022536,GARD:0003178,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019590,GARD:0022535,GARD:0003178,,Rare neoplastic disease +GARD:0019591,GARD:0022522,GARD:0016529,,Rare hematologic disease +GARD:0019591,GARD:0022536,GARD:0016529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019591,GARD:0022535,GARD:0016529,,Rare neoplastic disease +GARD:0019592,GARD:0022535,GARD:0016529,,Rare neoplastic disease +GARD:0019592,GARD:0022522,GARD:0016529,,Rare hematologic disease +GARD:0019592,GARD:0022536,GARD:0016529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019593,GARD:0022536,GARD:0016529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019593,GARD:0022535,GARD:0016529,,Rare neoplastic disease +GARD:0019593,GARD:0022522,GARD:0016529,,Rare hematologic disease +GARD:0019594,GARD:0022535,GARD:0016529,,Rare neoplastic disease +GARD:0019594,GARD:0022536,GARD:0016529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019594,GARD:0022522,GARD:0016529,,Rare hematologic disease +GARD:0019595,GARD:0022535,GARD:0008616,,Rare neoplastic disease +GARD:0019595,GARD:0022522,GARD:0008616,,Rare hematologic disease +GARD:0019596,GARD:0022522,GARD:0008616,,Rare hematologic disease +GARD:0019596,GARD:0022535,GARD:0008616,,Rare neoplastic disease +GARD:0019597,GARD:0022522,GARD:0008616,,Rare hematologic disease +GARD:0019597,GARD:0022535,GARD:0008616,,Rare neoplastic disease +GARD:0019598,GARD:0022535,GARD:0008616,GARD:0022276,Rare neoplastic disease +GARD:0019598,GARD:0022522,GARD:0008616,GARD:0022276,Rare hematologic disease +GARD:0019598,GARD:0022535,GARD:0008616,GARD:0022277,Rare neoplastic disease +GARD:0019598,GARD:0022522,GARD:0008616,GARD:0022277,Rare hematologic disease +GARD:0019599,GARD:0022531,GARD:0019823,GARD:0006986,Rare genetic disease +GARD:0019599,GARD:0022524,GARD:0019823,GARD:0006986,Rare neurologic disease +GARD:0019600,GARD:0022531,GARD:0020427,GARD:0017296,Rare genetic disease +GARD:0019600,GARD:0022531,GARD:0010529,GARD:0017296,Rare genetic disease +GARD:0019600,GARD:0022531,GARD:0020427,GARD:0017651,Rare genetic disease +GARD:0019600,GARD:0022524,GARD:0010529,GARD:0017296,Rare neurologic disease +GARD:0019600,GARD:0022524,GARD:0010529,GARD:0017651,Rare neurologic disease +GARD:0019600,GARD:0022531,GARD:0010529,GARD:0017651,Rare genetic disease +GARD:0019601,GARD:0022524,GARD:0006554,,Rare neurologic disease +GARD:0019602,GARD:0022524,GARD:0006554,,Rare neurologic disease +GARD:0019603,GARD:0022513,GARD:0019483,,Rare developmental defect during embryogenesis +GARD:0019603,GARD:0022524,GARD:0019483,,Rare neurologic disease +GARD:0019604,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0019604,GARD:0022524,GARD:0007079,,Rare neurologic disease +GARD:0019605,GARD:0022513,GARD:0019498,,Rare developmental defect during embryogenesis +GARD:0019605,GARD:0022520,GARD:0019498,,Rare ophthalmic disorder +GARD:0019605,GARD:0022531,GARD:0019498,,Rare genetic disease +GARD:0019606,GARD:0022520,GARD:0016797,,Rare ophthalmic disorder +GARD:0019606,GARD:0022513,GARD:0016797,,Rare developmental defect during embryogenesis +GARD:0019606,GARD:0022531,GARD:0016797,,Rare genetic disease +GARD:0019607,GARD:0022513,GARD:0016797,,Rare developmental defect during embryogenesis +GARD:0019607,GARD:0022520,GARD:0016797,,Rare ophthalmic disorder +GARD:0019607,GARD:0022531,GARD:0016797,,Rare genetic disease +GARD:0019608,GARD:0022513,GARD:0006972,,Rare developmental defect during embryogenesis +GARD:0019608,GARD:0022520,GARD:0006972,,Rare ophthalmic disorder +GARD:0019608,GARD:0022531,GARD:0006972,,Rare genetic disease +GARD:0019609,GARD:0022520,GARD:0019518,,Rare ophthalmic disorder +GARD:0019610,GARD:0022531,GARD:0019520,,Rare genetic disease +GARD:0019610,GARD:0022520,GARD:0019520,,Rare ophthalmic disorder +GARD:0019611,GARD:0022520,GARD:0000060,,Rare ophthalmic disorder +GARD:0019611,GARD:0022513,GARD:0000060,,Rare developmental defect during embryogenesis +GARD:0019611,GARD:0022531,GARD:0000060,,Rare genetic disease +GARD:0019612,GARD:0022531,GARD:0009821,,Rare genetic disease +GARD:0019612,GARD:0022520,GARD:0009821,,Rare ophthalmic disorder +GARD:0019613,GARD:0022531,GARD:0009821,,Rare genetic disease +GARD:0019613,GARD:0022520,GARD:0009821,,Rare ophthalmic disorder +GARD:0019614,GARD:0022513,GARD:0005476,,Rare developmental defect during embryogenesis +GARD:0019614,GARD:0022531,GARD:0005476,,Rare genetic disease +GARD:0019614,GARD:0022519,GARD:0005476,,Rare surgical cardiac disease +GARD:0019615,GARD:0022519,GARD:0001908,,Rare surgical cardiac disease +GARD:0019615,GARD:0022513,GARD:0001908,,Rare developmental defect during embryogenesis +GARD:0019615,GARD:0022531,GARD:0001908,,Rare genetic disease +GARD:0019616,GARD:0022531,GARD:0001908,,Rare genetic disease +GARD:0019616,GARD:0022513,GARD:0001908,,Rare developmental defect during embryogenesis +GARD:0019616,GARD:0022519,GARD:0001908,,Rare surgical cardiac disease +GARD:0019617,GARD:0022531,GARD:0001908,,Rare genetic disease +GARD:0019617,GARD:0022519,GARD:0001908,,Rare surgical cardiac disease +GARD:0019617,GARD:0022513,GARD:0001908,,Rare developmental defect during embryogenesis +GARD:0019618,GARD:0022519,GARD:0004597,,Rare surgical cardiac disease +GARD:0019618,GARD:0022527,GARD:0004597,,Rare circulatory system disease +GARD:0019618,GARD:0022513,GARD:0004597,,Rare developmental defect during embryogenesis +GARD:0019619,GARD:0022513,GARD:0018717,,Rare developmental defect during embryogenesis +GARD:0019619,GARD:0022519,GARD:0018717,,Rare surgical cardiac disease +GARD:0019620,GARD:0022527,GARD:0016619,,Rare circulatory system disease +GARD:0019620,GARD:0022519,GARD:0016619,,Rare surgical cardiac disease +GARD:0019620,GARD:0022513,GARD:0016619,,Rare developmental defect during embryogenesis +GARD:0019621,GARD:0022513,GARD:0016619,,Rare developmental defect during embryogenesis +GARD:0019621,GARD:0022519,GARD:0016619,,Rare surgical cardiac disease +GARD:0019621,GARD:0022527,GARD:0016619,,Rare circulatory system disease +GARD:0019622,GARD:0022527,GARD:0016623,,Rare circulatory system disease +GARD:0019622,GARD:0022513,GARD:0016623,,Rare developmental defect during embryogenesis +GARD:0019622,GARD:0022519,GARD:0016623,,Rare surgical cardiac disease +GARD:0019623,GARD:0022519,GARD:0019265,,Rare surgical cardiac disease +GARD:0019623,GARD:0022513,GARD:0019265,,Rare developmental defect during embryogenesis +GARD:0019624,GARD:0022519,GARD:0019265,,Rare surgical cardiac disease +GARD:0019624,GARD:0022513,GARD:0019265,,Rare developmental defect during embryogenesis +GARD:0019625,GARD:0022513,GARD:0019266,,Rare developmental defect during embryogenesis +GARD:0019625,GARD:0022519,GARD:0019266,,Rare surgical cardiac disease +GARD:0019626,GARD:0022513,GARD:0019266,,Rare developmental defect during embryogenesis +GARD:0019626,GARD:0022519,GARD:0019266,,Rare surgical cardiac disease +GARD:0019627,GARD:0022519,GARD:0019266,,Rare surgical cardiac disease +GARD:0019627,GARD:0022513,GARD:0019266,,Rare developmental defect during embryogenesis +GARD:0019628,GARD:0022519,GARD:0019266,,Rare surgical cardiac disease +GARD:0019628,GARD:0022513,GARD:0019266,,Rare developmental defect during embryogenesis +GARD:0019629,GARD:0022513,GARD:0019266,,Rare developmental defect during embryogenesis +GARD:0019629,GARD:0022519,GARD:0019266,,Rare surgical cardiac disease +GARD:0019630,GARD:0022519,GARD:0019266,,Rare surgical cardiac disease +GARD:0019630,GARD:0022513,GARD:0019266,,Rare developmental defect during embryogenesis +GARD:0019631,GARD:0022519,GARD:0019267,,Rare surgical cardiac disease +GARD:0019631,GARD:0022513,GARD:0019267,,Rare developmental defect during embryogenesis +GARD:0019632,GARD:0022519,GARD:0018798,,Rare surgical cardiac disease +GARD:0019632,GARD:0022527,GARD:0018798,,Rare circulatory system disease +GARD:0019632,GARD:0022513,GARD:0018798,,Rare developmental defect during embryogenesis +GARD:0019633,GARD:0022513,GARD:0018798,,Rare developmental defect during embryogenesis +GARD:0019633,GARD:0022527,GARD:0018798,,Rare circulatory system disease +GARD:0019633,GARD:0022519,GARD:0018798,,Rare surgical cardiac disease +GARD:0019634,GARD:0022519,GARD:0019270,,Rare surgical cardiac disease +GARD:0019634,GARD:0022527,GARD:0019270,,Rare circulatory system disease +GARD:0019634,GARD:0022513,GARD:0019270,,Rare developmental defect during embryogenesis +GARD:0019635,GARD:0022513,GARD:0000741,,Rare developmental defect during embryogenesis +GARD:0019635,GARD:0022517,GARD:0000741,,Rare respiratory disease +GARD:0019635,GARD:0022527,GARD:0000741,,Rare circulatory system disease +GARD:0019635,GARD:0022518,GARD:0000741,,Rare surgical thoracic disease +GARD:0019635,GARD:0022519,GARD:0000741,,Rare surgical cardiac disease +GARD:0019636,GARD:0022527,GARD:0000741,,Rare circulatory system disease +GARD:0019636,GARD:0022517,GARD:0000741,,Rare respiratory disease +GARD:0019636,GARD:0022519,GARD:0000741,,Rare surgical cardiac disease +GARD:0019636,GARD:0022513,GARD:0000741,,Rare developmental defect during embryogenesis +GARD:0019636,GARD:0022518,GARD:0000741,,Rare surgical thoracic disease +GARD:0019637,GARD:0022513,GARD:0000741,,Rare developmental defect during embryogenesis +GARD:0019637,GARD:0022518,GARD:0000741,,Rare surgical thoracic disease +GARD:0019637,GARD:0022519,GARD:0000741,,Rare surgical cardiac disease +GARD:0019637,GARD:0022517,GARD:0000741,,Rare respiratory disease +GARD:0019637,GARD:0022527,GARD:0000741,,Rare circulatory system disease +GARD:0019638,GARD:0022517,GARD:0000741,,Rare respiratory disease +GARD:0019638,GARD:0022519,GARD:0000741,,Rare surgical cardiac disease +GARD:0019638,GARD:0022513,GARD:0000741,,Rare developmental defect during embryogenesis +GARD:0019638,GARD:0022527,GARD:0000741,,Rare circulatory system disease +GARD:0019638,GARD:0022518,GARD:0000741,,Rare surgical thoracic disease +GARD:0019639,GARD:0022517,GARD:0000741,,Rare respiratory disease +GARD:0019639,GARD:0022527,GARD:0000741,,Rare circulatory system disease +GARD:0019639,GARD:0022519,GARD:0000741,,Rare surgical cardiac disease +GARD:0019639,GARD:0022513,GARD:0000741,,Rare developmental defect during embryogenesis +GARD:0019639,GARD:0022518,GARD:0000741,,Rare surgical thoracic disease +GARD:0019640,GARD:0022513,GARD:0000741,,Rare developmental defect during embryogenesis +GARD:0019640,GARD:0022517,GARD:0000741,,Rare respiratory disease +GARD:0019640,GARD:0022527,GARD:0000741,,Rare circulatory system disease +GARD:0019640,GARD:0022519,GARD:0000741,,Rare surgical cardiac disease +GARD:0019640,GARD:0022518,GARD:0000741,,Rare surgical thoracic disease +GARD:0019641,GARD:0022519,GARD:0000741,,Rare surgical cardiac disease +GARD:0019641,GARD:0022517,GARD:0000741,,Rare respiratory disease +GARD:0019641,GARD:0022527,GARD:0000741,,Rare circulatory system disease +GARD:0019641,GARD:0022518,GARD:0000741,,Rare surgical thoracic disease +GARD:0019641,GARD:0022513,GARD:0000741,,Rare developmental defect during embryogenesis +GARD:0019642,GARD:0022527,GARD:0019553,,Rare circulatory system disease +GARD:0019642,GARD:0022513,GARD:0019553,,Rare developmental defect during embryogenesis +GARD:0019642,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0019642,GARD:0022519,GARD:0019553,,Rare surgical cardiac disease +GARD:0019643,GARD:0022519,GARD:0022230,,Rare surgical cardiac disease +GARD:0019643,GARD:0022513,GARD:0022230,,Rare developmental defect during embryogenesis +GARD:0019644,GARD:0022513,GARD:0022230,,Rare developmental defect during embryogenesis +GARD:0019644,GARD:0022519,GARD:0022230,,Rare surgical cardiac disease +GARD:0019645,GARD:0022519,GARD:0022230,,Rare surgical cardiac disease +GARD:0019645,GARD:0022513,GARD:0022230,,Rare developmental defect during embryogenesis +GARD:0019646,GARD:0022513,GARD:0021948,,Rare developmental defect during embryogenesis +GARD:0019646,GARD:0022519,GARD:0021948,,Rare surgical cardiac disease +GARD:0019647,GARD:0022513,GARD:0019094,,Rare developmental defect during embryogenesis +GARD:0019647,GARD:0022519,GARD:0019094,,Rare surgical cardiac disease +GARD:0019648,GARD:0022519,GARD:0019283,,Rare surgical cardiac disease +GARD:0019648,GARD:0022513,GARD:0019283,,Rare developmental defect during embryogenesis +GARD:0019649,GARD:0022519,GARD:0019283,,Rare surgical cardiac disease +GARD:0019649,GARD:0022513,GARD:0019283,,Rare developmental defect during embryogenesis +GARD:0019650,GARD:0022513,GARD:0019283,,Rare developmental defect during embryogenesis +GARD:0019650,GARD:0022519,GARD:0019283,,Rare surgical cardiac disease +GARD:0019651,GARD:0022519,GARD:0019558,,Rare surgical cardiac disease +GARD:0019651,GARD:0022513,GARD:0019558,,Rare developmental defect during embryogenesis +GARD:0019652,GARD:0022527,GARD:0019275,,Rare circulatory system disease +GARD:0019652,GARD:0022519,GARD:0019275,,Rare surgical cardiac disease +GARD:0019652,GARD:0022513,GARD:0019275,,Rare developmental defect during embryogenesis +GARD:0019653,GARD:0022519,GARD:0019275,,Rare surgical cardiac disease +GARD:0019653,GARD:0022527,GARD:0019275,,Rare circulatory system disease +GARD:0019653,GARD:0022513,GARD:0019275,,Rare developmental defect during embryogenesis +GARD:0019654,GARD:0022527,GARD:0019275,,Rare circulatory system disease +GARD:0019654,GARD:0022513,GARD:0019275,,Rare developmental defect during embryogenesis +GARD:0019654,GARD:0022519,GARD:0019275,,Rare surgical cardiac disease +GARD:0019655,GARD:0022527,GARD:0019275,,Rare circulatory system disease +GARD:0019655,GARD:0022519,GARD:0019275,,Rare surgical cardiac disease +GARD:0019655,GARD:0022513,GARD:0019275,,Rare developmental defect during embryogenesis +GARD:0019656,GARD:0022519,GARD:0019275,,Rare surgical cardiac disease +GARD:0019656,GARD:0022527,GARD:0019275,,Rare circulatory system disease +GARD:0019656,GARD:0022513,GARD:0019275,,Rare developmental defect during embryogenesis +GARD:0019657,GARD:0022519,GARD:0019275,,Rare surgical cardiac disease +GARD:0019657,GARD:0022527,GARD:0019275,,Rare circulatory system disease +GARD:0019657,GARD:0022513,GARD:0019275,,Rare developmental defect during embryogenesis +GARD:0019658,GARD:0022519,GARD:0019277,,Rare surgical cardiac disease +GARD:0019658,GARD:0022513,GARD:0019277,,Rare developmental defect during embryogenesis +GARD:0019658,GARD:0022527,GARD:0019277,,Rare circulatory system disease +GARD:0019659,GARD:0022519,GARD:0019277,,Rare surgical cardiac disease +GARD:0019659,GARD:0022513,GARD:0019277,,Rare developmental defect during embryogenesis +GARD:0019659,GARD:0022527,GARD:0019277,,Rare circulatory system disease +GARD:0019660,GARD:0022527,GARD:0019276,,Rare circulatory system disease +GARD:0019660,GARD:0022519,GARD:0019276,,Rare surgical cardiac disease +GARD:0019660,GARD:0022513,GARD:0019276,,Rare developmental defect during embryogenesis +GARD:0019661,GARD:0022527,GARD:0019276,,Rare circulatory system disease +GARD:0019661,GARD:0022519,GARD:0019276,,Rare surgical cardiac disease +GARD:0019661,GARD:0022513,GARD:0019276,,Rare developmental defect during embryogenesis +GARD:0019662,GARD:0022519,GARD:0019276,,Rare surgical cardiac disease +GARD:0019662,GARD:0022527,GARD:0019276,,Rare circulatory system disease +GARD:0019662,GARD:0022513,GARD:0019276,,Rare developmental defect during embryogenesis +GARD:0019663,GARD:0022527,GARD:0019276,,Rare circulatory system disease +GARD:0019663,GARD:0022519,GARD:0019276,,Rare surgical cardiac disease +GARD:0019663,GARD:0022513,GARD:0019276,,Rare developmental defect during embryogenesis +GARD:0019664,GARD:0022519,GARD:0019276,,Rare surgical cardiac disease +GARD:0019664,GARD:0022513,GARD:0019276,,Rare developmental defect during embryogenesis +GARD:0019664,GARD:0022527,GARD:0019276,,Rare circulatory system disease +GARD:0019665,GARD:0022513,GARD:0004599,,Rare developmental defect during embryogenesis +GARD:0019665,GARD:0022519,GARD:0004599,,Rare surgical cardiac disease +GARD:0019665,GARD:0022527,GARD:0004599,,Rare circulatory system disease +GARD:0019666,GARD:0022519,GARD:0018779,,Rare surgical cardiac disease +GARD:0019666,GARD:0022513,GARD:0018779,,Rare developmental defect during embryogenesis +GARD:0019667,GARD:0022519,GARD:0018779,,Rare surgical cardiac disease +GARD:0019667,GARD:0022513,GARD:0018779,,Rare developmental defect during embryogenesis +GARD:0019668,GARD:0022513,GARD:0018779,,Rare developmental defect during embryogenesis +GARD:0019668,GARD:0022519,GARD:0018779,,Rare surgical cardiac disease +GARD:0019669,GARD:0022522,GARD:0019461,,Rare hematologic disease +GARD:0019669,GARD:0022531,GARD:0018965,,Rare genetic disease +GARD:0019669,GARD:0022531,GARD:0019461,,Rare genetic disease +GARD:0019669,GARD:0022508,GARD:0018965,,Rare inborn errors of metabolism +GARD:0019670,GARD:0022536,GARD:0018883,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019670,GARD:0022522,GARD:0018883,,Rare hematologic disease +GARD:0019671,GARD:0022520,GARD:0019501,,Rare ophthalmic disorder +GARD:0019671,GARD:0022513,GARD:0019501,,Rare developmental defect during embryogenesis +GARD:0019671,GARD:0022531,GARD:0022161,,Rare genetic disease +GARD:0019672,GARD:0022520,GARD:0022081,,Rare ophthalmic disorder +GARD:0019672,GARD:0022513,GARD:0022081,,Rare developmental defect during embryogenesis +GARD:0019672,GARD:0022531,GARD:0022162,,Rare genetic disease +GARD:0019673,GARD:0022520,GARD:0019502,,Rare ophthalmic disorder +GARD:0019673,GARD:0022513,GARD:0019502,,Rare developmental defect during embryogenesis +GARD:0019673,GARD:0022531,GARD:0019502,,Rare genetic disease +GARD:0019674,GARD:0022520,GARD:0019501,,Rare ophthalmic disorder +GARD:0019674,GARD:0022531,GARD:0022161,,Rare genetic disease +GARD:0019674,GARD:0022513,GARD:0019501,,Rare developmental defect during embryogenesis +GARD:0019675,GARD:0022513,GARD:0019496,,Rare developmental defect during embryogenesis +GARD:0019675,GARD:0022520,GARD:0019496,,Rare ophthalmic disorder +GARD:0019675,GARD:0022531,GARD:0019496,,Rare genetic disease +GARD:0019676,GARD:0022536,GARD:0007831,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019676,GARD:0022510,GARD:0007831,,Rare skin disease +GARD:0019676,GARD:0022514,GARD:0007831,,Rare gynecologic or obstetric disease +GARD:0019676,GARD:0022524,GARD:0007831,,Rare neurologic disease +GARD:0019676,GARD:0022532,GARD:0007831,,Rare urogenital disease +GARD:0019676,GARD:0022527,GARD:0007831,,Rare circulatory system disease +GARD:0019676,GARD:0022513,GARD:0007831,,Rare developmental defect during embryogenesis +GARD:0019676,GARD:0022529,GARD:0007831,,Rare infertility +GARD:0019676,GARD:0022531,GARD:0007831,,Rare genetic disease +GARD:0019676,GARD:0022520,GARD:0007831,,Rare ophthalmic disorder +GARD:0019676,GARD:0022512,GARD:0007831,,Rare renal disease +GARD:0019676,GARD:0022521,GARD:0007831,,Rare endocrine disease +GARD:0019677,GARD:0022512,GARD:0007831,,Rare renal disease +GARD:0019677,GARD:0022514,GARD:0007831,,Rare gynecologic or obstetric disease +GARD:0019677,GARD:0022532,GARD:0007831,,Rare urogenital disease +GARD:0019677,GARD:0022527,GARD:0007831,,Rare circulatory system disease +GARD:0019677,GARD:0022531,GARD:0007831,,Rare genetic disease +GARD:0019677,GARD:0022520,GARD:0007831,,Rare ophthalmic disorder +GARD:0019677,GARD:0022510,GARD:0007831,,Rare skin disease +GARD:0019677,GARD:0022529,GARD:0007831,,Rare infertility +GARD:0019677,GARD:0022521,GARD:0007831,,Rare endocrine disease +GARD:0019677,GARD:0022524,GARD:0007831,,Rare neurologic disease +GARD:0019677,GARD:0022536,GARD:0007831,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019677,GARD:0022513,GARD:0007831,,Rare developmental defect during embryogenesis +GARD:0019678,GARD:0022531,GARD:0019425,,Rare genetic disease +GARD:0019678,GARD:0022513,GARD:0019425,,Rare developmental defect during embryogenesis +GARD:0019679,GARD:0022531,GARD:0020913,,Rare genetic disease +GARD:0019679,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0019679,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0019679,GARD:0022513,GARD:0020913,,Rare developmental defect during embryogenesis +GARD:0019680,GARD:0022535,GARD:0021253,GARD:0010959,Rare neoplastic disease +GARD:0019680,GARD:0022521,GARD:0019279,GARD:0010959,Rare endocrine disease +GARD:0019680,GARD:0022535,GARD:0021253,GARD:0021389,Rare neoplastic disease +GARD:0019680,GARD:0022521,GARD:0019279,GARD:0019159,Rare endocrine disease +GARD:0019680,GARD:0022535,GARD:0021253,GARD:0019159,Rare neoplastic disease +GARD:0019680,GARD:0022521,GARD:0019279,GARD:0021389,Rare endocrine disease +GARD:0019681,GARD:0022529,GARD:0007831,,Rare infertility +GARD:0019681,GARD:0022521,GARD:0007831,,Rare endocrine disease +GARD:0019681,GARD:0022520,GARD:0007831,,Rare ophthalmic disorder +GARD:0019681,GARD:0022536,GARD:0007831,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019681,GARD:0022531,GARD:0007831,,Rare genetic disease +GARD:0019681,GARD:0022513,GARD:0007831,,Rare developmental defect during embryogenesis +GARD:0019681,GARD:0022512,GARD:0007831,,Rare renal disease +GARD:0019681,GARD:0022524,GARD:0007831,,Rare neurologic disease +GARD:0019681,GARD:0022532,GARD:0007831,,Rare urogenital disease +GARD:0019681,GARD:0022510,GARD:0007831,,Rare skin disease +GARD:0019681,GARD:0022514,GARD:0007831,,Rare gynecologic or obstetric disease +GARD:0019681,GARD:0022527,GARD:0007831,,Rare circulatory system disease +GARD:0019682,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0019682,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0019682,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0019683,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0019683,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0019683,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0019684,GARD:0022524,GARD:0002173,,Rare neurologic disease +GARD:0019684,GARD:0022531,GARD:0002173,,Rare genetic disease +GARD:0019685,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0019685,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0019685,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0019685,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0019685,GARD:0022531,GARD:0010248,,Rare genetic disease +GARD:0019685,GARD:0022524,GARD:0010248,,Rare neurologic disease +GARD:0019685,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0019686,GARD:0022515,GARD:0020518,GARD:0020521,Rare cardiac disease +GARD:0019686,GARD:0022536,GARD:0020518,GARD:0020523,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019686,GARD:0022515,GARD:0020518,GARD:0020522,Rare cardiac disease +GARD:0019686,GARD:0022531,GARD:0019399,GARD:0020520,Rare genetic disease +GARD:0019686,GARD:0022531,GARD:0019399,GARD:0020521,Rare genetic disease +GARD:0019686,GARD:0022531,GARD:0019399,GARD:0020519,Rare genetic disease +GARD:0019686,GARD:0022531,GARD:0019399,GARD:0020523,Rare genetic disease +GARD:0019686,GARD:0022536,GARD:0020518,GARD:0020520,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019686,GARD:0022536,GARD:0020518,GARD:0020519,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019686,GARD:0022515,GARD:0020518,GARD:0020520,Rare cardiac disease +GARD:0019686,GARD:0022515,GARD:0020518,GARD:0020523,Rare cardiac disease +GARD:0019686,GARD:0022536,GARD:0020518,GARD:0020521,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019686,GARD:0022515,GARD:0020518,GARD:0020519,Rare cardiac disease +GARD:0019686,GARD:0022536,GARD:0020518,GARD:0020522,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019686,GARD:0022531,GARD:0019399,GARD:0020522,Rare genetic disease +GARD:0019687,GARD:0022507,GARD:0001896,,Rare maxillo-facial surgical disease +GARD:0019687,GARD:0022513,GARD:0001896,,Rare developmental defect during embryogenesis +GARD:0019688,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0019689,GARD:0022524,GARD:0019433,,Rare neurologic disease +GARD:0019689,GARD:0022509,GARD:0019433,,Rare infectious disease +GARD:0019690,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0019691,GARD:0022531,GARD:0020974,GARD:0019693,Rare genetic disease +GARD:0019691,GARD:0022513,GARD:0020974,GARD:0021589,Rare developmental defect during embryogenesis +GARD:0019691,GARD:0022524,GARD:0007725,GARD:0021589,Rare neurologic disease +GARD:0019691,GARD:0022524,GARD:0007725,GARD:0019693,Rare neurologic disease +GARD:0019691,GARD:0022513,GARD:0020974,GARD:0019693,Rare developmental defect during embryogenesis +GARD:0019691,GARD:0022531,GARD:0020974,GARD:0021589,Rare genetic disease +GARD:0019691,GARD:0022524,GARD:0020974,GARD:0019693,Rare neurologic disease +GARD:0019691,GARD:0022524,GARD:0020974,GARD:0021589,Rare neurologic disease +GARD:0019692,GARD:0022524,GARD:0007725,,Rare neurologic disease +GARD:0019693,GARD:0022524,GARD:0019691,,Rare neurologic disease +GARD:0019693,GARD:0022531,GARD:0019691,,Rare genetic disease +GARD:0019693,GARD:0022513,GARD:0019691,,Rare developmental defect during embryogenesis +GARD:0019694,GARD:0022522,GARD:0000522,,Rare hematologic disease +GARD:0019694,GARD:0022536,GARD:0000522,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019694,GARD:0022535,GARD:0000522,,Rare neoplastic disease +GARD:0019695,GARD:0022535,GARD:0005201,,Rare neoplastic disease +GARD:0019696,GARD:0022535,GARD:0005201,GARD:0020897,Rare neoplastic disease +GARD:0019696,GARD:0022521,GARD:0019768,GARD:0020896,Rare endocrine disease +GARD:0019696,GARD:0022535,GARD:0019768,GARD:0020897,Rare neoplastic disease +GARD:0019696,GARD:0022535,GARD:0005201,GARD:0020895,Rare neoplastic disease +GARD:0019696,GARD:0022535,GARD:0019768,GARD:0020896,Rare neoplastic disease +GARD:0019696,GARD:0022521,GARD:0019768,GARD:0020895,Rare endocrine disease +GARD:0019696,GARD:0022535,GARD:0005201,GARD:0020896,Rare neoplastic disease +GARD:0019696,GARD:0022521,GARD:0019768,GARD:0020897,Rare endocrine disease +GARD:0019696,GARD:0022535,GARD:0019768,GARD:0020895,Rare neoplastic disease +GARD:0019697,GARD:0022522,GARD:0000524,,Rare hematologic disease +GARD:0019697,GARD:0022535,GARD:0000524,,Rare neoplastic disease +GARD:0019697,GARD:0022536,GARD:0000524,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019698,GARD:0022535,GARD:0022053,,Rare neoplastic disease +GARD:0019698,GARD:0022521,GARD:0019699,,Rare endocrine disease +GARD:0019698,GARD:0022529,GARD:0019699,,Rare infertility +GARD:0019698,GARD:0022521,GARD:0022053,,Rare endocrine disease +GARD:0019698,GARD:0022516,GARD:0022053,,Rare gastroenterologic disease +GARD:0019699,GARD:0022529,GARD:0021681,GARD:0019698,Rare infertility +GARD:0019699,GARD:0022529,GARD:0021671,GARD:0012867,Rare infertility +GARD:0019699,GARD:0022521,GARD:0006224,GARD:0012867,Rare endocrine disease +GARD:0019699,GARD:0022529,GARD:0021671,GARD:0019698,Rare infertility +GARD:0019699,GARD:0022521,GARD:0006224,GARD:0019698,Rare endocrine disease +GARD:0019699,GARD:0022529,GARD:0021681,GARD:0012867,Rare infertility +GARD:0019700,GARD:0022521,GARD:0006224,GARD:0021856,Rare endocrine disease +GARD:0019700,GARD:0022529,GARD:0021671,GARD:0010906,Rare infertility +GARD:0019700,GARD:0022529,GARD:0021681,GARD:0021856,Rare infertility +GARD:0019700,GARD:0022529,GARD:0021671,GARD:0021856,Rare infertility +GARD:0019700,GARD:0022521,GARD:0006224,GARD:0010906,Rare endocrine disease +GARD:0019700,GARD:0022529,GARD:0021681,GARD:0010906,Rare infertility +GARD:0019701,GARD:0022509,GARD:0009557,,Rare infectious disease +GARD:0019702,GARD:0022509,GARD:0009557,,Rare infectious disease +GARD:0019703,GARD:0022517,GARD:0000012,,Rare respiratory disease +GARD:0019703,GARD:0022530,GARD:0000012,,Rare allergic disease +GARD:0019703,GARD:0022536,GARD:0000012,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019704,GARD:0022517,GARD:0000012,GARD:0006427,Rare respiratory disease +GARD:0019704,GARD:0022530,GARD:0000012,GARD:0016924,Rare allergic disease +GARD:0019704,GARD:0022536,GARD:0000012,GARD:0016924,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019704,GARD:0022517,GARD:0000012,GARD:0016924,Rare respiratory disease +GARD:0019704,GARD:0022530,GARD:0000012,GARD:0006427,Rare allergic disease +GARD:0019704,GARD:0022536,GARD:0000012,GARD:0006427,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019705,GARD:0022514,GARD:0009330,,Rare gynecologic or obstetric disease +GARD:0019705,GARD:0022535,GARD:0009330,,Rare neoplastic disease +GARD:0019705,GARD:0022536,GARD:0009330,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019706,GARD:0022536,GARD:0009325,GARD:0020202,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019706,GARD:0022536,GARD:0009325,GARD:0018711,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019706,GARD:0022536,GARD:0009325,GARD:0005140,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019706,GARD:0022536,GARD:0009325,GARD:0000348,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019706,GARD:0022535,GARD:0009325,GARD:0018711,Rare neoplastic disease +GARD:0019706,GARD:0022535,GARD:0009325,GARD:0009621,Rare neoplastic disease +GARD:0019706,GARD:0022535,GARD:0009325,GARD:0020202,Rare neoplastic disease +GARD:0019706,GARD:0022535,GARD:0009325,GARD:0005140,Rare neoplastic disease +GARD:0019706,GARD:0022536,GARD:0009325,GARD:0009621,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019706,GARD:0022535,GARD:0009325,GARD:0000348,Rare neoplastic disease +GARD:0019706,GARD:0022535,GARD:0009325,GARD:0021380,Rare neoplastic disease +GARD:0019706,GARD:0022536,GARD:0009325,GARD:0021380,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019706,GARD:0022535,GARD:0009325,GARD:0019712,Rare neoplastic disease +GARD:0019706,GARD:0022536,GARD:0009325,GARD:0019712,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019707,GARD:0022535,GARD:0018816,,Rare neoplastic disease +GARD:0019707,GARD:0022514,GARD:0018816,,Rare gynecologic or obstetric disease +GARD:0019708,GARD:0022514,GARD:0018816,,Rare gynecologic or obstetric disease +GARD:0019708,GARD:0022535,GARD:0018816,,Rare neoplastic disease +GARD:0019709,GARD:0022509,GARD:0009560,,Rare infectious disease +GARD:0019710,GARD:0022509,GARD:0009560,,Rare infectious disease +GARD:0019710,GARD:0022509,GARD:0021239,,Rare infectious disease +GARD:0019711,GARD:0022514,GARD:0006498,,Rare gynecologic or obstetric disease +GARD:0019711,GARD:0022535,GARD:0006498,,Rare neoplastic disease +GARD:0019712,GARD:0022535,GARD:0019706,,Rare neoplastic disease +GARD:0019712,GARD:0022535,GARD:0006498,,Rare neoplastic disease +GARD:0019712,GARD:0022536,GARD:0019706,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019712,GARD:0022514,GARD:0006498,,Rare gynecologic or obstetric disease +GARD:0019713,GARD:0022536,GARD:0020938,GARD:0019714,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019713,GARD:0022517,GARD:0020938,GARD:0019714,Rare respiratory disease +GARD:0019714,GARD:0022536,GARD:0019713,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019714,GARD:0022517,GARD:0019713,,Rare respiratory disease +GARD:0019715,GARD:0022517,GARD:0008757,,Rare respiratory disease +GARD:0019715,GARD:0022535,GARD:0008757,,Rare neoplastic disease +GARD:0019716,GARD:0022517,GARD:0008757,,Rare respiratory disease +GARD:0019716,GARD:0022535,GARD:0008757,,Rare neoplastic disease +GARD:0019717,GARD:0022517,GARD:0008757,,Rare respiratory disease +GARD:0019717,GARD:0022535,GARD:0008757,,Rare neoplastic disease +GARD:0019718,GARD:0022524,GARD:0019479,,Rare neurologic disease +GARD:0019719,GARD:0022535,GARD:0006913,,Rare neoplastic disease +GARD:0019720,GARD:0022535,GARD:0006913,,Rare neoplastic disease +GARD:0019721,GARD:0022535,GARD:0006913,,Rare neoplastic disease +GARD:0019722,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0019723,GARD:0022509,GARD:0018924,GARD:0001609,Rare infectious disease +GARD:0019723,GARD:0022509,GARD:0018924,GARD:0002418,Rare infectious disease +GARD:0019723,GARD:0022509,GARD:0018924,GARD:0020065,Rare infectious disease +GARD:0019724,GARD:0022524,GARD:0020083,,Rare neurologic disease +GARD:0019724,GARD:0022531,GARD:0020083,,Rare genetic disease +GARD:0019724,GARD:0022521,GARD:0018682,,Rare endocrine disease +GARD:0019724,GARD:0022531,GARD:0018682,,Rare genetic disease +GARD:0019725,GARD:0022509,GARD:0019032,,Rare infectious disease +GARD:0019726,GARD:0022509,GARD:0019032,,Rare infectious disease +GARD:0019727,GARD:0022524,GARD:0004647,,Rare neurologic disease +GARD:0019728,GARD:0022535,GARD:0019730,,Rare neoplastic disease +GARD:0019728,GARD:0022524,GARD:0019730,,Rare neurologic disease +GARD:0019729,GARD:0022535,GARD:0019730,,Rare neoplastic disease +GARD:0019729,GARD:0022524,GARD:0019730,,Rare neurologic disease +GARD:0019730,GARD:0022535,GARD:0012698,GARD:0019729,Rare neoplastic disease +GARD:0019730,GARD:0022524,GARD:0012698,GARD:0019729,Rare neurologic disease +GARD:0019730,GARD:0022524,GARD:0012698,GARD:0019728,Rare neurologic disease +GARD:0019730,GARD:0022535,GARD:0012698,GARD:0019728,Rare neoplastic disease +GARD:0019731,GARD:0022524,GARD:0019068,,Rare neurologic disease +GARD:0019731,GARD:0022513,GARD:0019068,,Rare developmental defect during embryogenesis +GARD:0019731,GARD:0022531,GARD:0019068,,Rare genetic disease +GARD:0019732,GARD:0022513,GARD:0019068,,Rare developmental defect during embryogenesis +GARD:0019732,GARD:0022524,GARD:0019068,,Rare neurologic disease +GARD:0019732,GARD:0022531,GARD:0019068,,Rare genetic disease +GARD:0019733,GARD:0022531,GARD:0019068,,Rare genetic disease +GARD:0019733,GARD:0022513,GARD:0019068,,Rare developmental defect during embryogenesis +GARD:0019733,GARD:0022524,GARD:0019068,,Rare neurologic disease +GARD:0019734,GARD:0022531,GARD:0019068,,Rare genetic disease +GARD:0019734,GARD:0022513,GARD:0019068,,Rare developmental defect during embryogenesis +GARD:0019734,GARD:0022524,GARD:0019068,,Rare neurologic disease +GARD:0019735,GARD:0022513,GARD:0019068,,Rare developmental defect during embryogenesis +GARD:0019735,GARD:0022531,GARD:0019068,,Rare genetic disease +GARD:0019735,GARD:0022524,GARD:0019068,,Rare neurologic disease +GARD:0019736,GARD:0022531,GARD:0019068,,Rare genetic disease +GARD:0019736,GARD:0022513,GARD:0019068,,Rare developmental defect during embryogenesis +GARD:0019736,GARD:0022524,GARD:0019068,,Rare neurologic disease +GARD:0019737,GARD:0022536,GARD:0019070,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019737,GARD:0022522,GARD:0019070,,Rare hematologic disease +GARD:0019737,GARD:0022535,GARD:0019070,,Rare neoplastic disease +GARD:0019738,GARD:0022536,GARD:0019070,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019738,GARD:0022535,GARD:0019070,,Rare neoplastic disease +GARD:0019738,GARD:0022522,GARD:0019070,,Rare hematologic disease +GARD:0019739,GARD:0022535,GARD:0013446,,Rare neoplastic disease +GARD:0019739,GARD:0022524,GARD:0013446,,Rare neurologic disease +GARD:0019739,GARD:0022536,GARD:0013446,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019739,GARD:0022522,GARD:0013446,,Rare hematologic disease +GARD:0019740,GARD:0022522,GARD:0013446,,Rare hematologic disease +GARD:0019740,GARD:0022535,GARD:0013446,,Rare neoplastic disease +GARD:0019740,GARD:0022524,GARD:0013446,,Rare neurologic disease +GARD:0019740,GARD:0022536,GARD:0013446,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019741,GARD:0022522,GARD:0019074,,Rare hematologic disease +GARD:0019741,GARD:0022536,GARD:0019074,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019741,GARD:0022535,GARD:0019074,,Rare neoplastic disease +GARD:0019742,GARD:0022522,GARD:0019074,,Rare hematologic disease +GARD:0019742,GARD:0022535,GARD:0019074,,Rare neoplastic disease +GARD:0019742,GARD:0022536,GARD:0019074,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019743,GARD:0022536,GARD:0021257,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019743,GARD:0022535,GARD:0021257,,Rare neoplastic disease +GARD:0019743,GARD:0022506,GARD:0021257,,Rare hepatic disease +GARD:0019744,GARD:0022534,GARD:0019164,,Rare abdominal surgical disease +GARD:0019744,GARD:0022513,GARD:0019164,,Rare developmental defect during embryogenesis +GARD:0019744,GARD:0022531,GARD:0019164,,Rare genetic disease +GARD:0019745,GARD:0022513,GARD:0019164,,Rare developmental defect during embryogenesis +GARD:0019745,GARD:0022531,GARD:0019164,,Rare genetic disease +GARD:0019745,GARD:0022534,GARD:0019164,,Rare abdominal surgical disease +GARD:0019746,GARD:0022531,GARD:0020944,GARD:0017745,Rare genetic disease +GARD:0019746,GARD:0022536,GARD:0020922,GARD:0022313,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019746,GARD:0022517,GARD:0020922,GARD:0017745,Rare respiratory disease +GARD:0019746,GARD:0022536,GARD:0020922,GARD:0012163,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019746,GARD:0022517,GARD:0020922,GARD:0017126,Rare respiratory disease +GARD:0019746,GARD:0022536,GARD:0020922,GARD:0017745,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019746,GARD:0022517,GARD:0020922,GARD:0022313,Rare respiratory disease +GARD:0019746,GARD:0022531,GARD:0020944,GARD:0022313,Rare genetic disease +GARD:0019746,GARD:0022536,GARD:0020922,GARD:0017126,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019746,GARD:0022536,GARD:0020922,GARD:0017746,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019746,GARD:0022531,GARD:0020944,GARD:0017746,Rare genetic disease +GARD:0019746,GARD:0022517,GARD:0020922,GARD:0017746,Rare respiratory disease +GARD:0019746,GARD:0022517,GARD:0020922,GARD:0004582,Rare respiratory disease +GARD:0019746,GARD:0022531,GARD:0020944,GARD:0017126,Rare genetic disease +GARD:0019746,GARD:0022517,GARD:0020922,GARD:0012163,Rare respiratory disease +GARD:0019746,GARD:0022531,GARD:0020944,GARD:0012163,Rare genetic disease +GARD:0019746,GARD:0022536,GARD:0020922,GARD:0004582,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019746,GARD:0022531,GARD:0020944,GARD:0004582,Rare genetic disease +GARD:0019747,GARD:0022525,GARD:0022196,,Rare systemic or rheumatologic disease +GARD:0019747,GARD:0022530,GARD:0022196,,Rare allergic disease +GARD:0019748,GARD:0022525,GARD:0022196,,Rare systemic or rheumatologic disease +GARD:0019748,GARD:0022530,GARD:0022196,,Rare allergic disease +GARD:0019749,GARD:0022518,GARD:0007759,,Rare surgical thoracic disease +GARD:0019749,GARD:0022524,GARD:0020243,,Rare neurologic disease +GARD:0019750,GARD:0022516,GARD:0018857,,Rare gastroenterologic disease +GARD:0019750,GARD:0022535,GARD:0018857,,Rare neoplastic disease +GARD:0019750,GARD:0022535,GARD:0021985,,Rare neoplastic disease +GARD:0019750,GARD:0022521,GARD:0021985,,Rare endocrine disease +GARD:0019751,GARD:0022536,GARD:0021765,GARD:0007918,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019751,GARD:0022521,GARD:0021765,GARD:0007918,Rare endocrine disease +GARD:0019751,GARD:0022535,GARD:0021765,GARD:0007918,Rare neoplastic disease +GARD:0019751,GARD:0022521,GARD:0021765,GARD:0004900,Rare endocrine disease +GARD:0019751,GARD:0022535,GARD:0021765,GARD:0004900,Rare neoplastic disease +GARD:0019751,GARD:0022516,GARD:0021765,GARD:0004900,Rare gastroenterologic disease +GARD:0019751,GARD:0022516,GARD:0021765,GARD:0007918,Rare gastroenterologic disease +GARD:0019751,GARD:0022536,GARD:0021765,GARD:0004900,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019752,GARD:0022516,GARD:0021765,GARD:0004900,Rare gastroenterologic disease +GARD:0019752,GARD:0022535,GARD:0021765,GARD:0004900,Rare neoplastic disease +GARD:0019752,GARD:0022521,GARD:0021765,GARD:0004900,Rare endocrine disease +GARD:0019752,GARD:0022536,GARD:0021765,GARD:0004900,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019753,GARD:0022536,GARD:0021765,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019753,GARD:0022521,GARD:0021765,,Rare endocrine disease +GARD:0019753,GARD:0022535,GARD:0021765,,Rare neoplastic disease +GARD:0019753,GARD:0022516,GARD:0021765,,Rare gastroenterologic disease +GARD:0019754,GARD:0022535,GARD:0021985,GARD:0010414,Rare neoplastic disease +GARD:0019754,GARD:0022536,GARD:0021766,GARD:0021500,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019754,GARD:0022535,GARD:0021766,GARD:0010414,Rare neoplastic disease +GARD:0019754,GARD:0022521,GARD:0021985,GARD:0010414,Rare endocrine disease +GARD:0019754,GARD:0022536,GARD:0021766,GARD:0010414,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019754,GARD:0022516,GARD:0021766,GARD:0021500,Rare gastroenterologic disease +GARD:0019754,GARD:0022535,GARD:0021766,GARD:0021500,Rare neoplastic disease +GARD:0019754,GARD:0022516,GARD:0021766,GARD:0010414,Rare gastroenterologic disease +GARD:0019754,GARD:0022535,GARD:0021985,GARD:0021500,Rare neoplastic disease +GARD:0019754,GARD:0022521,GARD:0021985,GARD:0021500,Rare endocrine disease +GARD:0019755,GARD:0022535,GARD:0021767,,Rare neoplastic disease +GARD:0019755,GARD:0022536,GARD:0021767,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019755,GARD:0022521,GARD:0021985,,Rare endocrine disease +GARD:0019755,GARD:0022535,GARD:0021985,,Rare neoplastic disease +GARD:0019755,GARD:0022516,GARD:0021767,,Rare gastroenterologic disease +GARD:0019756,GARD:0022536,GARD:0021769,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019756,GARD:0022535,GARD:0021769,,Rare neoplastic disease +GARD:0019756,GARD:0022535,GARD:0021985,,Rare neoplastic disease +GARD:0019756,GARD:0022516,GARD:0021769,,Rare gastroenterologic disease +GARD:0019756,GARD:0022521,GARD:0021985,,Rare endocrine disease +GARD:0019757,GARD:0022535,GARD:0021985,,Rare neoplastic disease +GARD:0019757,GARD:0022521,GARD:0021985,,Rare endocrine disease +GARD:0019757,GARD:0022536,GARD:0021771,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019757,GARD:0022535,GARD:0021771,,Rare neoplastic disease +GARD:0019757,GARD:0022516,GARD:0021771,,Rare gastroenterologic disease +GARD:0019758,GARD:0022535,GARD:0019768,,Rare neoplastic disease +GARD:0019758,GARD:0022528,GARD:0019405,,Rare otorhinolaryngologic disease +GARD:0019758,GARD:0022535,GARD:0019405,,Rare neoplastic disease +GARD:0019758,GARD:0022521,GARD:0019768,,Rare endocrine disease +GARD:0019759,GARD:0022535,GARD:0019405,,Rare neoplastic disease +GARD:0019759,GARD:0022535,GARD:0019768,,Rare neoplastic disease +GARD:0019759,GARD:0022528,GARD:0019405,,Rare otorhinolaryngologic disease +GARD:0019759,GARD:0022521,GARD:0019768,,Rare endocrine disease +GARD:0019760,GARD:0022535,GARD:0021785,,Rare neoplastic disease +GARD:0019760,GARD:0022536,GARD:0021785,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019760,GARD:0022521,GARD:0019768,,Rare endocrine disease +GARD:0019760,GARD:0022535,GARD:0019768,,Rare neoplastic disease +GARD:0019760,GARD:0022506,GARD:0021785,,Rare hepatic disease +GARD:0019761,GARD:0022521,GARD:0019768,,Rare endocrine disease +GARD:0019761,GARD:0022535,GARD:0019768,,Rare neoplastic disease +GARD:0019761,GARD:0022535,GARD:0021256,,Rare neoplastic disease +GARD:0019761,GARD:0022506,GARD:0021256,,Rare hepatic disease +GARD:0019761,GARD:0022536,GARD:0021256,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019762,GARD:0022535,GARD:0020254,GARD:0019763,Rare neoplastic disease +GARD:0019762,GARD:0022535,GARD:0020254,GARD:0019359,Rare neoplastic disease +GARD:0019762,GARD:0022521,GARD:0019799,GARD:0019763,Rare endocrine disease +GARD:0019762,GARD:0022521,GARD:0019799,GARD:0019359,Rare endocrine disease +GARD:0019763,GARD:0022521,GARD:0019762,GARD:0016901,Rare endocrine disease +GARD:0019763,GARD:0022535,GARD:0019762,GARD:0021421,Rare neoplastic disease +GARD:0019763,GARD:0022535,GARD:0019762,GARD:0007004,Rare neoplastic disease +GARD:0019763,GARD:0022521,GARD:0019762,GARD:0007004,Rare endocrine disease +GARD:0019763,GARD:0022535,GARD:0019762,GARD:0012027,Rare neoplastic disease +GARD:0019763,GARD:0022521,GARD:0019762,GARD:0003830,Rare endocrine disease +GARD:0019763,GARD:0022535,GARD:0019762,GARD:0000664,Rare neoplastic disease +GARD:0019763,GARD:0022521,GARD:0019762,GARD:0021421,Rare endocrine disease +GARD:0019763,GARD:0022535,GARD:0019762,GARD:0003830,Rare neoplastic disease 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+GARD:0019765,GARD:0022521,GARD:0019798,GARD:0003829,Rare endocrine disease +GARD:0019765,GARD:0022521,GARD:0019798,GARD:0001119,Rare endocrine disease +GARD:0019765,GARD:0022535,GARD:0020254,GARD:0003829,Rare neoplastic disease +GARD:0019765,GARD:0022535,GARD:0020254,GARD:0010225,Rare neoplastic disease +GARD:0019765,GARD:0022521,GARD:0019798,GARD:0019161,Rare endocrine disease +GARD:0019765,GARD:0022521,GARD:0019798,GARD:0004881,Rare endocrine disease +GARD:0019765,GARD:0022535,GARD:0020254,GARD:0001119,Rare neoplastic disease +GARD:0019765,GARD:0022535,GARD:0020254,GARD:0019161,Rare neoplastic disease +GARD:0019765,GARD:0022535,GARD:0020254,GARD:0004881,Rare neoplastic disease +GARD:0019765,GARD:0022535,GARD:0020254,GARD:0000558,Rare neoplastic disease +GARD:0019765,GARD:0022535,GARD:0020254,GARD:0002789,Rare neoplastic disease +GARD:0019765,GARD:0022535,GARD:0020254,GARD:0007855,Rare neoplastic disease +GARD:0019766,GARD:0022521,GARD:0019800,GARD:0010924,Rare endocrine disease +GARD:0019766,GARD:0022531,GARD:0020317,GARD:0010643,Rare genetic disease +GARD:0019766,GARD:0022535,GARD:0020254,GARD:0010924,Rare neoplastic disease +GARD:0019766,GARD:0022531,GARD:0021015,GARD:0010924,Rare genetic disease +GARD:0019766,GARD:0022535,GARD:0020254,GARD:0021044,Rare neoplastic disease +GARD:0019766,GARD:0022531,GARD:0021015,GARD:0001119,Rare genetic disease +GARD:0019766,GARD:0022531,GARD:0020317,GARD:0001119,Rare genetic disease +GARD:0019766,GARD:0022521,GARD:0019800,GARD:0001119,Rare endocrine disease +GARD:0019766,GARD:0022521,GARD:0019800,GARD:0021044,Rare endocrine disease +GARD:0019766,GARD:0022535,GARD:0020254,GARD:0007855,Rare neoplastic disease +GARD:0019766,GARD:0022531,GARD:0020317,GARD:0010924,Rare genetic disease +GARD:0019766,GARD:0022521,GARD:0019800,GARD:0010643,Rare endocrine disease +GARD:0019766,GARD:0022531,GARD:0021015,GARD:0007855,Rare genetic disease +GARD:0019766,GARD:0022531,GARD:0021015,GARD:0021044,Rare genetic disease +GARD:0019766,GARD:0022535,GARD:0020254,GARD:0001119,Rare neoplastic disease +GARD:0019766,GARD:0022535,GARD:0020254,GARD:0010643,Rare neoplastic disease +GARD:0019766,GARD:0022521,GARD:0019800,GARD:0007855,Rare endocrine disease +GARD:0019766,GARD:0022531,GARD:0020317,GARD:0007855,Rare genetic disease +GARD:0019766,GARD:0022531,GARD:0020317,GARD:0021044,Rare genetic disease +GARD:0019766,GARD:0022531,GARD:0021015,GARD:0010643,Rare genetic disease +GARD:0019767,GARD:0022535,GARD:0019401,GARD:0019361,Rare neoplastic disease +GARD:0019767,GARD:0022535,GARD:0019401,GARD:0005201,Rare neoplastic disease +GARD:0019768,GARD:0022535,GARD:0009316,GARD:0019360,Rare neoplastic disease +GARD:0019768,GARD:0022521,GARD:0009316,GARD:0019761,Rare endocrine disease +GARD:0019768,GARD:0022521,GARD:0009316,GARD:0011923,Rare endocrine disease +GARD:0019768,GARD:0022521,GARD:0009316,GARD:0019361,Rare endocrine disease +GARD:0019768,GARD:0022521,GARD:0009316,GARD:0020489,Rare endocrine disease +GARD:0019768,GARD:0022535,GARD:0009316,GARD:0020489,Rare neoplastic disease +GARD:0019768,GARD:0022535,GARD:0009316,GARD:0020482,Rare neoplastic disease +GARD:0019768,GARD:0022521,GARD:0009316,GARD:0019760,Rare endocrine disease +GARD:0019768,GARD:0022535,GARD:0009316,GARD:0009266,Rare neoplastic disease +GARD:0019768,GARD:0022521,GARD:0009316,GARD:0019758,Rare endocrine disease +GARD:0019768,GARD:0022521,GARD:0009316,GARD:0009266,Rare endocrine disease +GARD:0019768,GARD:0022521,GARD:0009316,GARD:0019696,Rare endocrine disease +GARD:0019768,GARD:0022535,GARD:0009316,GARD:0019361,Rare neoplastic disease +GARD:0019768,GARD:0022521,GARD:0009316,GARD:0001303,Rare endocrine disease +GARD:0019768,GARD:0022535,GARD:0009316,GARD:0019759,Rare neoplastic disease +GARD:0019768,GARD:0022521,GARD:0009316,GARD:0019759,Rare endocrine disease +GARD:0019768,GARD:0022521,GARD:0009316,GARD:0020482,Rare endocrine disease +GARD:0019768,GARD:0022535,GARD:0009316,GARD:0019758,Rare neoplastic disease +GARD:0019768,GARD:0022521,GARD:0009316,GARD:0019360,Rare endocrine disease +GARD:0019768,GARD:0022535,GARD:0009316,GARD:0019696,Rare neoplastic disease +GARD:0019768,GARD:0022535,GARD:0009316,GARD:0011923,Rare neoplastic disease +GARD:0019768,GARD:0022535,GARD:0009316,GARD:0001303,Rare neoplastic disease +GARD:0019768,GARD:0022535,GARD:0009316,GARD:0019760,Rare neoplastic disease +GARD:0019768,GARD:0022535,GARD:0009316,GARD:0019761,Rare neoplastic disease +GARD:0019769,GARD:0022531,GARD:0022531,,Rare genetic disease +GARD:0019770,GARD:0022524,GARD:0019823,GARD:0018033,Rare neurologic disease +GARD:0019770,GARD:0022524,GARD:0019823,GARD:0017957,Rare neurologic disease +GARD:0019770,GARD:0022524,GARD:0019823,GARD:0002342,Rare neurologic disease +GARD:0019770,GARD:0022524,GARD:0019823,GARD:0017065,Rare neurologic disease +GARD:0019770,GARD:0022531,GARD:0019823,GARD:0004921,Rare genetic disease +GARD:0019770,GARD:0022524,GARD:0019823,GARD:0009583,Rare neurologic disease +GARD:0019770,GARD:0022531,GARD:0019823,GARD:0009729,Rare genetic disease +GARD:0019770,GARD:0022531,GARD:0019823,GARD:0004219,Rare genetic disease +GARD:0019770,GARD:0022531,GARD:0019823,GARD:0017957,Rare genetic disease +GARD:0019770,GARD:0022531,GARD:0019823,GARD:0009583,Rare genetic disease +GARD:0019770,GARD:0022531,GARD:0019823,GARD:0002342,Rare genetic disease +GARD:0019770,GARD:0022531,GARD:0019823,GARD:0017065,Rare genetic disease +GARD:0019770,GARD:0022524,GARD:0019823,GARD:0009729,Rare neurologic disease +GARD:0019770,GARD:0022531,GARD:0019823,GARD:0000806,Rare genetic disease +GARD:0019770,GARD:0022524,GARD:0019823,GARD:0004918,Rare neurologic disease +GARD:0019770,GARD:0022524,GARD:0019823,GARD:0017472,Rare neurologic disease +GARD:0019770,GARD:0022531,GARD:0019823,GARD:0018033,Rare genetic disease +GARD:0019770,GARD:0022524,GARD:0019823,GARD:0004219,Rare neurologic disease +GARD:0019770,GARD:0022524,GARD:0019823,GARD:0004921,Rare neurologic disease +GARD:0019770,GARD:0022531,GARD:0019823,GARD:0021491,Rare genetic disease +GARD:0019770,GARD:0022524,GARD:0019823,GARD:0021491,Rare neurologic disease +GARD:0019770,GARD:0022524,GARD:0019823,GARD:0000806,Rare neurologic disease +GARD:0019770,GARD:0022531,GARD:0019823,GARD:0004918,Rare genetic disease +GARD:0019770,GARD:0022531,GARD:0019823,GARD:0017472,Rare genetic disease +GARD:0019771,GARD:0022524,GARD:0019822,GARD:0017471,Rare neurologic disease +GARD:0019771,GARD:0022524,GARD:0019822,GARD:0009586,Rare neurologic disease +GARD:0019771,GARD:0022531,GARD:0019822,GARD:0017660,Rare genetic disease +GARD:0019771,GARD:0022531,GARD:0019822,GARD:0009588,Rare genetic disease +GARD:0019771,GARD:0022531,GARD:0019822,GARD:0009586,Rare genetic disease +GARD:0019771,GARD:0022531,GARD:0019822,GARD:0017073,Rare genetic disease +GARD:0019771,GARD:0022524,GARD:0019822,GARD:0017763,Rare neurologic disease +GARD:0019771,GARD:0022524,GARD:0019822,GARD:0009588,Rare neurologic disease +GARD:0019771,GARD:0022531,GARD:0019822,GARD:0017471,Rare genetic disease +GARD:0019771,GARD:0022524,GARD:0019822,GARD:0017073,Rare neurologic disease +GARD:0019771,GARD:0022524,GARD:0019822,GARD:0017064,Rare neurologic disease +GARD:0019771,GARD:0022524,GARD:0019822,GARD:0017660,Rare neurologic disease +GARD:0019771,GARD:0022531,GARD:0019822,GARD:0017064,Rare genetic disease +GARD:0019771,GARD:0022531,GARD:0019822,GARD:0017763,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0021797,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0004924,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0010999,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0010538,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0021698,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0009582,Rare neurologic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0016959,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0017946,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0021797,Rare neurologic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0017659,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0021699,Rare neurologic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0017475,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0016939,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0017658,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0017476,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0021700,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0021697,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0017853,Rare neurologic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0010810,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0010999,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0009581,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0010538,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0017813,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0017445,Rare neurologic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0000336,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0017656,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0017476,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0012749,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0017656,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0004931,Rare neurologic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0021695,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0017644,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0017892,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0016939,Rare neurologic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0017892,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0017770,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0004922,Rare neurologic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0017770,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0017813,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0013568,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0009581,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0022012,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0017816,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0021699,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0005372,Rare neurologic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0004931,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0017478,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0017816,Rare neurologic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0017478,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0009582,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0010810,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0021696,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0021700,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0022012,Rare neurologic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0017475,Rare neurologic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0004922,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0004924,Rare neurologic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0017952,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0017658,Rare neurologic disease 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+GARD:0019772,GARD:0022531,GARD:0019823,GARD:0009587,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0017644,Rare genetic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0005372,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0016959,Rare neurologic disease +GARD:0019772,GARD:0022531,GARD:0019823,GARD:0017445,Rare genetic disease +GARD:0019772,GARD:0022524,GARD:0019823,GARD:0013568,Rare neurologic disease +GARD:0019773,GARD:0022524,GARD:0019822,GARD:0017657,Rare neurologic disease +GARD:0019773,GARD:0022531,GARD:0019822,GARD:0017660,Rare genetic disease +GARD:0019773,GARD:0022524,GARD:0019822,GARD:0017660,Rare neurologic disease +GARD:0019773,GARD:0022524,GARD:0019822,GARD:0016941,Rare neurologic disease +GARD:0019773,GARD:0022531,GARD:0019822,GARD:0016941,Rare genetic disease +GARD:0019773,GARD:0022531,GARD:0019822,GARD:0021701,Rare genetic disease +GARD:0019773,GARD:0022524,GARD:0019822,GARD:0009296,Rare neurologic disease +GARD:0019773,GARD:0022524,GARD:0019822,GARD:0021701,Rare neurologic disease +GARD:0019773,GARD:0022531,GARD:0019822,GARD:0017657,Rare genetic disease +GARD:0019773,GARD:0022531,GARD:0019822,GARD:0009296,Rare genetic disease +GARD:0019774,GARD:0022507,GARD:0001896,,Rare maxillo-facial surgical disease +GARD:0019774,GARD:0022513,GARD:0001896,,Rare developmental defect during embryogenesis +GARD:0019775,GARD:0022531,GARD:0016586,,Rare genetic disease +GARD:0019775,GARD:0022513,GARD:0016586,,Rare developmental defect during embryogenesis +GARD:0019775,GARD:0022524,GARD:0016586,,Rare neurologic disease +GARD:0019776,GARD:0022513,GARD:0018786,,Rare developmental defect during embryogenesis +GARD:0019776,GARD:0022519,GARD:0018786,,Rare surgical cardiac disease +GARD:0019776,GARD:0022527,GARD:0018786,,Rare circulatory system disease +GARD:0019777,GARD:0022524,GARD:0020980,,Rare neurologic disease +GARD:0019777,GARD:0022531,GARD:0020980,,Rare genetic disease +GARD:0019777,GARD:0022513,GARD:0020980,,Rare developmental defect during embryogenesis +GARD:0019778,GARD:0022535,GARD:0019069,,Rare neoplastic disease +GARD:0019778,GARD:0022522,GARD:0019069,,Rare hematologic disease +GARD:0019778,GARD:0022536,GARD:0019069,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019779,GARD:0022513,GARD:0006972,,Rare developmental defect during embryogenesis +GARD:0019779,GARD:0022531,GARD:0006972,,Rare genetic disease +GARD:0019779,GARD:0022520,GARD:0006972,,Rare ophthalmic disorder +GARD:0019780,GARD:0022513,GARD:0004597,,Rare developmental defect during embryogenesis +GARD:0019780,GARD:0022519,GARD:0004597,,Rare surgical cardiac disease +GARD:0019780,GARD:0022527,GARD:0004597,,Rare circulatory system disease +GARD:0019781,GARD:0022509,GARD:0019828,,Rare infectious disease +GARD:0019782,GARD:0022531,GARD:0022531,GARD:0022149,Rare genetic disease +GARD:0019782,GARD:0022531,GARD:0022531,GARD:0020310,Rare genetic disease +GARD:0019782,GARD:0022531,GARD:0022531,GARD:0019514,Rare genetic disease +GARD:0019782,GARD:0022531,GARD:0022531,GARD:0019537,Rare genetic disease +GARD:0019783,GARD:0022531,GARD:0020086,GARD:0018640,Rare genetic disease +GARD:0019783,GARD:0022524,GARD:0019090,GARD:0018640,Rare neurologic disease +GARD:0019783,GARD:0022524,GARD:0019090,GARD:0018643,Rare neurologic disease +GARD:0019783,GARD:0022531,GARD:0020325,GARD:0012107,Rare genetic disease +GARD:0019783,GARD:0022531,GARD:0020086,GARD:0018643,Rare genetic disease +GARD:0019783,GARD:0022531,GARD:0020325,GARD:0018643,Rare genetic disease +GARD:0019783,GARD:0022524,GARD:0020086,GARD:0018640,Rare neurologic disease +GARD:0019783,GARD:0022524,GARD:0020086,GARD:0012107,Rare neurologic disease +GARD:0019783,GARD:0022531,GARD:0020086,GARD:0012107,Rare genetic disease +GARD:0019783,GARD:0022524,GARD:0019090,GARD:0012107,Rare neurologic disease +GARD:0019783,GARD:0022531,GARD:0020325,GARD:0018640,Rare genetic disease +GARD:0019783,GARD:0022524,GARD:0020086,GARD:0018643,Rare neurologic disease +GARD:0019784,GARD:0022513,GARD:0019266,,Rare developmental defect during embryogenesis +GARD:0019784,GARD:0022519,GARD:0019266,,Rare surgical cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0017982,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0009511,Rare genetic disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0012281,Rare cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0002706,Rare cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0013423,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0016650,Rare genetic disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0017729,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0016566,Rare genetic disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0009846,Rare genetic disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0016550,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0013663,Rare genetic disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0006666,Rare genetic disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0001030,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0017847,Rare genetic disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0017729,Rare genetic disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0017145,Rare genetic disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0006164,Rare cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0017145,Rare cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0009847,Rare cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0017485,Rare cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0004421,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0001030,Rare genetic disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0017485,Rare genetic disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0000968,Rare genetic disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0016566,Rare cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0016564,Rare cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0013663,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0002614,Rare genetic disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0009453,Rare genetic disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0009740,Rare genetic disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0009511,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0013423,Rare genetic disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0006666,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0016550,Rare genetic disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0009846,Rare cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0010005,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0016564,Rare genetic disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0009453,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0017982,Rare genetic disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0017847,Rare cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0002614,Rare cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0016547,Rare cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0017484,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0017484,Rare genetic disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0004227,Rare cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0000968,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0016651,Rare genetic disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0009740,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0010005,Rare genetic disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0004421,Rare genetic disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0009847,Rare genetic disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0012281,Rare genetic disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0006164,Rare genetic disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0016650,Rare cardiac disease +GARD:0019785,GARD:0022515,GARD:0020536,GARD:0016651,Rare cardiac disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0004227,Rare genetic disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0016547,Rare genetic disease +GARD:0019785,GARD:0022531,GARD:0019399,GARD:0002706,Rare genetic disease +GARD:0019786,GARD:0022516,GARD:0022516,GARD:0002438,Rare gastroenterologic disease +GARD:0019786,GARD:0022516,GARD:0022516,GARD:0021998,Rare gastroenterologic disease +GARD:0019786,GARD:0022516,GARD:0022516,GARD:0002436,Rare gastroenterologic disease +GARD:0019786,GARD:0022516,GARD:0022516,GARD:0017664,Rare gastroenterologic disease +GARD:0019786,GARD:0022516,GARD:0022516,GARD:0008259,Rare gastroenterologic disease +GARD:0019786,GARD:0022516,GARD:0022516,GARD:0003102,Rare gastroenterologic disease +GARD:0019786,GARD:0022516,GARD:0022516,GARD:0005708,Rare gastroenterologic disease +GARD:0019786,GARD:0022516,GARD:0022516,GARD:0022249,Rare gastroenterologic disease +GARD:0019786,GARD:0022516,GARD:0022516,GARD:0020598,Rare gastroenterologic disease +GARD:0019786,GARD:0022516,GARD:0022516,GARD:0020213,Rare gastroenterologic disease +GARD:0019786,GARD:0022516,GARD:0022516,GARD:0003303,Rare gastroenterologic disease +GARD:0019786,GARD:0022516,GARD:0022516,GARD:0009684,Rare gastroenterologic disease +GARD:0019786,GARD:0022516,GARD:0022516,GARD:0021495,Rare gastroenterologic disease +GARD:0019786,GARD:0022516,GARD:0022516,GARD:0009142,Rare gastroenterologic disease +GARD:0019787,GARD:0022516,GARD:0022516,GARD:0009364,Rare gastroenterologic disease +GARD:0019787,GARD:0022516,GARD:0022516,GARD:0006632,Rare gastroenterologic disease +GARD:0019787,GARD:0022516,GARD:0022516,GARD:0006233,Rare gastroenterologic disease +GARD:0019787,GARD:0022516,GARD:0022516,GARD:0010911,Rare gastroenterologic disease +GARD:0019787,GARD:0022516,GARD:0022516,GARD:0021316,Rare gastroenterologic disease +GARD:0019787,GARD:0022516,GARD:0022516,GARD:0017095,Rare gastroenterologic disease +GARD:0019787,GARD:0022516,GARD:0022516,GARD:0016946,Rare gastroenterologic disease +GARD:0019787,GARD:0022516,GARD:0022516,GARD:0021361,Rare gastroenterologic disease +GARD:0019787,GARD:0022516,GARD:0022516,GARD:0017791,Rare gastroenterologic disease +GARD:0019787,GARD:0022516,GARD:0022516,GARD:0004863,Rare gastroenterologic disease +GARD:0019787,GARD:0022516,GARD:0022516,GARD:0021236,Rare gastroenterologic disease +GARD:0019788,GARD:0022506,GARD:0022506,GARD:0018707,Rare hepatic disease +GARD:0019788,GARD:0022506,GARD:0022506,GARD:0006626,Rare hepatic disease +GARD:0019788,GARD:0022506,GARD:0022506,GARD:0021977,Rare hepatic disease +GARD:0019788,GARD:0022506,GARD:0022506,GARD:0022393,Rare hepatic disease +GARD:0019788,GARD:0022506,GARD:0022506,GARD:0005968,Rare hepatic disease +GARD:0019788,GARD:0022506,GARD:0022506,GARD:0021979,Rare hepatic disease +GARD:0019788,GARD:0022506,GARD:0022506,GARD:0019282,Rare hepatic disease +GARD:0019788,GARD:0022506,GARD:0022506,GARD:0013004,Rare hepatic disease +GARD:0019788,GARD:0022506,GARD:0022506,GARD:0010083,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0017746,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0005871,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0004665,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0017363,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0017833,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0017106,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0017820,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0008378,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0017356,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0010593,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0017980,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0013114,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0020449,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0021637,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0018812,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0005258,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0022250,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0009578,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0019098,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0021621,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0001410,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0005177,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0018852,Rare hepatic disease +GARD:0019789,GARD:0022506,GARD:0022506,GARD:0021995,Rare hepatic disease +GARD:0019790,GARD:0022506,GARD:0022506,GARD:0000001,Rare hepatic disease +GARD:0019790,GARD:0022506,GARD:0022506,GARD:0017231,Rare hepatic disease +GARD:0019790,GARD:0022506,GARD:0022506,GARD:0013472,Rare hepatic disease +GARD:0019790,GARD:0022506,GARD:0022506,GARD:0005784,Rare hepatic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0017261,Rare genetic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0012099,Rare genetic disease +GARD:0019790,GARD:0022506,GARD:0022506,GARD:0017261,Rare hepatic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0004527,Rare genetic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0002268,Rare genetic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0021605,Rare genetic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0006622,Rare genetic disease +GARD:0019790,GARD:0022506,GARD:0022506,GARD:0022457,Rare hepatic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0010215,Rare genetic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0022457,Rare genetic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0020769,Rare genetic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0013639,Rare genetic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0019255,Rare genetic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0013472,Rare genetic disease +GARD:0019790,GARD:0022506,GARD:0022506,GARD:0013639,Rare hepatic disease +GARD:0019790,GARD:0022506,GARD:0022506,GARD:0016711,Rare hepatic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0016711,Rare genetic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0000218,Rare genetic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0016523,Rare genetic disease +GARD:0019790,GARD:0022506,GARD:0022506,GARD:0007172,Rare hepatic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0012472,Rare genetic disease +GARD:0019790,GARD:0022506,GARD:0022506,GARD:0016526,Rare hepatic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0011890,Rare genetic disease +GARD:0019790,GARD:0022506,GARD:0022506,GARD:0007893,Rare hepatic disease +GARD:0019790,GARD:0022506,GARD:0022506,GARD:0017755,Rare hepatic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0016949,Rare genetic disease +GARD:0019790,GARD:0022506,GARD:0022506,GARD:0021119,Rare hepatic disease +GARD:0019790,GARD:0022506,GARD:0022506,GARD:0005392,Rare hepatic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0020540,Rare genetic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0007893,Rare genetic disease +GARD:0019790,GARD:0022531,GARD:0020004,GARD:0006529,Rare genetic disease 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+GARD:0019791,GARD:0022506,GARD:0022506,GARD:0021976,Rare hepatic disease +GARD:0019791,GARD:0022506,GARD:0022506,GARD:0021844,Rare hepatic disease +GARD:0019792,GARD:0022506,GARD:0022506,GARD:0021256,Rare hepatic disease +GARD:0019792,GARD:0022506,GARD:0022506,GARD:0021257,Rare hepatic disease +GARD:0019792,GARD:0022535,GARD:0019403,GARD:0021256,Rare neoplastic disease +GARD:0019792,GARD:0022535,GARD:0019403,GARD:0021257,Rare neoplastic disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0010407,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0008535,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0017190,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0016663,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0010494,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0020244,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0012357,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0020512,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0010775,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0019110,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0006233,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0004867,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0005784,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0010252,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0005961,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0012382,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0013613,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0019722,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0021879,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0006858,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0000602,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0016664,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0017944,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0000341,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0016909,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0005235,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0022051,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0004997,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0009748,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0022321,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0021502,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0009237,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0000111,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0007827,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0018821,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0021897,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0001481,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0006779,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0021835,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0020146,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0004484,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0012829,Rare respiratory disease +GARD:0019793,GARD:0022517,GARD:0022517,GARD:0008526,Rare respiratory disease +GARD:0019794,GARD:0022535,GARD:0019404,GARD:0007026,Rare neoplastic disease +GARD:0019794,GARD:0022517,GARD:0019404,GARD:0009344,Rare respiratory disease +GARD:0019794,GARD:0022517,GARD:0019404,GARD:0019360,Rare respiratory disease +GARD:0019794,GARD:0022535,GARD:0019404,GARD:0018864,Rare neoplastic disease +GARD:0019794,GARD:0022535,GARD:0019404,GARD:0021120,Rare neoplastic disease +GARD:0019794,GARD:0022517,GARD:0019404,GARD:0008757,Rare respiratory disease +GARD:0019794,GARD:0022535,GARD:0019404,GARD:0019360,Rare neoplastic disease +GARD:0019794,GARD:0022517,GARD:0019404,GARD:0007026,Rare respiratory disease +GARD:0019794,GARD:0022535,GARD:0019404,GARD:0008757,Rare neoplastic disease +GARD:0019794,GARD:0022517,GARD:0019404,GARD:0018770,Rare respiratory disease +GARD:0019794,GARD:0022517,GARD:0019404,GARD:0018864,Rare respiratory disease +GARD:0019794,GARD:0022535,GARD:0019404,GARD:0018770,Rare neoplastic disease +GARD:0019794,GARD:0022517,GARD:0019404,GARD:0021120,Rare respiratory disease +GARD:0019794,GARD:0022535,GARD:0019404,GARD:0009344,Rare neoplastic disease +GARD:0019795,GARD:0022520,GARD:0022520,GARD:0007866,Rare ophthalmic disorder +GARD:0019795,GARD:0022520,GARD:0022520,GARD:0021063,Rare ophthalmic disorder +GARD:0019795,GARD:0022535,GARD:0019401,GARD:0008621,Rare neoplastic disease +GARD:0019795,GARD:0022535,GARD:0019401,GARD:0018845,Rare neoplastic disease +GARD:0019795,GARD:0022520,GARD:0022520,GARD:0009696,Rare ophthalmic disorder +GARD:0019795,GARD:0022535,GARD:0019401,GARD:0010744,Rare neoplastic disease +GARD:0019795,GARD:0022535,GARD:0019401,GARD:0020945,Rare neoplastic disease +GARD:0019795,GARD:0022520,GARD:0022520,GARD:0020945,Rare ophthalmic disorder +GARD:0019795,GARD:0022535,GARD:0019401,GARD:0021063,Rare neoplastic disease +GARD:0019795,GARD:0022520,GARD:0022520,GARD:0008621,Rare ophthalmic disorder +GARD:0019795,GARD:0022520,GARD:0022520,GARD:0021843,Rare ophthalmic disorder +GARD:0019795,GARD:0022535,GARD:0019401,GARD:0021533,Rare neoplastic disease +GARD:0019795,GARD:0022520,GARD:0022520,GARD:0010744,Rare ophthalmic disorder +GARD:0019795,GARD:0022535,GARD:0019401,GARD:0021843,Rare neoplastic disease +GARD:0019795,GARD:0022535,GARD:0019401,GARD:0009696,Rare neoplastic disease +GARD:0019795,GARD:0022520,GARD:0022520,GARD:0021062,Rare ophthalmic disorder +GARD:0019795,GARD:0022535,GARD:0019401,GARD:0007866,Rare neoplastic disease +GARD:0019795,GARD:0022535,GARD:0019401,GARD:0021062,Rare neoplastic disease +GARD:0019795,GARD:0022520,GARD:0022520,GARD:0021533,Rare ophthalmic disorder +GARD:0019795,GARD:0022535,GARD:0019401,GARD:0007563,Rare neoplastic disease +GARD:0019795,GARD:0022520,GARD:0022520,GARD:0007563,Rare ophthalmic disorder +GARD:0019795,GARD:0022520,GARD:0022520,GARD:0018845,Rare ophthalmic disorder +GARD:0019796,GARD:0022521,GARD:0022521,GARD:0020217,Rare endocrine disease +GARD:0019796,GARD:0022521,GARD:0022521,GARD:0018682,Rare endocrine disease +GARD:0019796,GARD:0022521,GARD:0022521,GARD:0020215,Rare endocrine disease +GARD:0019796,GARD:0022521,GARD:0022521,GARD:0020216,Rare endocrine disease +GARD:0019796,GARD:0022521,GARD:0022521,GARD:0020214,Rare endocrine disease +GARD:0019797,GARD:0022531,GARD:0020011,GARD:0020232,Rare genetic disease +GARD:0019797,GARD:0022531,GARD:0020011,GARD:0020231,Rare genetic disease +GARD:0019797,GARD:0022521,GARD:0022521,GARD:0020232,Rare endocrine disease +GARD:0019797,GARD:0022531,GARD:0021314,GARD:0020232,Rare genetic disease +GARD:0019797,GARD:0022531,GARD:0021314,GARD:0020231,Rare genetic disease +GARD:0019797,GARD:0022508,GARD:0021314,GARD:0020231,Rare inborn errors of metabolism +GARD:0019797,GARD:0022521,GARD:0022521,GARD:0020231,Rare endocrine disease +GARD:0019797,GARD:0022508,GARD:0021314,GARD:0020229,Rare inborn errors of metabolism +GARD:0019797,GARD:0022531,GARD:0020011,GARD:0020229,Rare genetic disease +GARD:0019797,GARD:0022531,GARD:0021314,GARD:0020229,Rare genetic disease +GARD:0019797,GARD:0022508,GARD:0021314,GARD:0020232,Rare inborn errors of metabolism +GARD:0019797,GARD:0022521,GARD:0022521,GARD:0020229,Rare endocrine disease +GARD:0019798,GARD:0022521,GARD:0022521,GARD:0020228,Rare endocrine disease +GARD:0019798,GARD:0022521,GARD:0022521,GARD:0006224,Rare endocrine disease +GARD:0019798,GARD:0022521,GARD:0022521,GARD:0013101,Rare endocrine disease +GARD:0019798,GARD:0022521,GARD:0022521,GARD:0000433,Rare endocrine disease +GARD:0019798,GARD:0022521,GARD:0022521,GARD:0019765,Rare endocrine disease +GARD:0019798,GARD:0022521,GARD:0022521,GARD:0020227,Rare endocrine disease +GARD:0019798,GARD:0022521,GARD:0022521,GARD:0020226,Rare endocrine disease +GARD:0019798,GARD:0022521,GARD:0022521,GARD:0019802,Rare endocrine disease +GARD:0019799,GARD:0022521,GARD:0022521,GARD:0019762,Rare endocrine disease +GARD:0019799,GARD:0022521,GARD:0022521,GARD:0020221,Rare endocrine disease +GARD:0019799,GARD:0022521,GARD:0022521,GARD:0019299,Rare endocrine disease +GARD:0019799,GARD:0022521,GARD:0022521,GARD:0017278,Rare endocrine disease +GARD:0019799,GARD:0022521,GARD:0022521,GARD:0020222,Rare endocrine disease +GARD:0019799,GARD:0022521,GARD:0022521,GARD:0022390,Rare endocrine disease +GARD:0019800,GARD:0022521,GARD:0022521,GARD:0013565,Rare endocrine disease +GARD:0019800,GARD:0022521,GARD:0022521,GARD:0000812,Rare endocrine disease +GARD:0019800,GARD:0022521,GARD:0022521,GARD:0019766,Rare endocrine disease +GARD:0019800,GARD:0022521,GARD:0022521,GARD:0017300,Rare endocrine disease +GARD:0019800,GARD:0022521,GARD:0022521,GARD:0021116,Rare endocrine disease +GARD:0019800,GARD:0022521,GARD:0022521,GARD:0012314,Rare endocrine disease +GARD:0019800,GARD:0022521,GARD:0022521,GARD:0001850,Rare endocrine disease +GARD:0019801,GARD:0022531,GARD:0020313,GARD:0016629,Rare genetic disease +GARD:0019801,GARD:0022521,GARD:0020218,GARD:0019272,Rare endocrine disease +GARD:0019801,GARD:0022531,GARD:0020313,GARD:0019272,Rare genetic disease +GARD:0019801,GARD:0022521,GARD:0020218,GARD:0006015,Rare endocrine disease +GARD:0019801,GARD:0022521,GARD:0020218,GARD:0019278,Rare endocrine disease +GARD:0019802,GARD:0022521,GARD:0019798,GARD:0019803,Rare endocrine disease +GARD:0019802,GARD:0022521,GARD:0019798,GARD:0019257,Rare endocrine disease +GARD:0019803,GARD:0022521,GARD:0019802,GARD:0019805,Rare endocrine disease +GARD:0019803,GARD:0022521,GARD:0019802,GARD:0019804,Rare endocrine disease +GARD:0019804,GARD:0022531,GARD:0020316,GARD:0008466,Rare genetic disease +GARD:0019804,GARD:0022521,GARD:0019803,GARD:0017094,Rare endocrine disease +GARD:0019804,GARD:0022521,GARD:0019803,GARD:0021143,Rare endocrine disease +GARD:0019804,GARD:0022521,GARD:0019803,GARD:0002498,Rare endocrine disease +GARD:0019804,GARD:0022521,GARD:0019803,GARD:0001467,Rare endocrine disease +GARD:0019804,GARD:0022531,GARD:0020316,GARD:0000562,Rare genetic disease +GARD:0019804,GARD:0022531,GARD:0020316,GARD:0000457,Rare genetic disease +GARD:0019804,GARD:0022531,GARD:0020316,GARD:0022385,Rare genetic disease +GARD:0019804,GARD:0022521,GARD:0019803,GARD:0017033,Rare endocrine disease +GARD:0019804,GARD:0022531,GARD:0020316,GARD:0017094,Rare genetic disease +GARD:0019804,GARD:0022521,GARD:0019803,GARD:0008466,Rare endocrine disease +GARD:0019804,GARD:0022521,GARD:0019803,GARD:0000559,Rare endocrine disease +GARD:0019804,GARD:0022531,GARD:0020316,GARD:0000559,Rare genetic disease +GARD:0019804,GARD:0022531,GARD:0020316,GARD:0005758,Rare genetic disease +GARD:0019804,GARD:0022531,GARD:0020316,GARD:0021143,Rare genetic disease +GARD:0019804,GARD:0022521,GARD:0019803,GARD:0005758,Rare endocrine disease +GARD:0019804,GARD:0022531,GARD:0020316,GARD:0017033,Rare genetic disease +GARD:0019804,GARD:0022521,GARD:0019803,GARD:0000562,Rare endocrine disease +GARD:0019804,GARD:0022521,GARD:0019803,GARD:0022385,Rare endocrine disease +GARD:0019804,GARD:0022531,GARD:0020316,GARD:0001467,Rare genetic disease +GARD:0019804,GARD:0022531,GARD:0020316,GARD:0002498,Rare genetic disease +GARD:0019804,GARD:0022521,GARD:0019803,GARD:0000457,Rare endocrine disease +GARD:0019805,GARD:0022521,GARD:0019803,GARD:0005740,Rare endocrine disease +GARD:0019805,GARD:0022521,GARD:0019803,GARD:0007611,Rare endocrine disease +GARD:0019806,GARD:0022523,GARD:0020168,GARD:0007628,Rare immune disease +GARD:0019806,GARD:0022523,GARD:0020168,GARD:0021981,Rare immune disease +GARD:0019806,GARD:0022531,GARD:0020168,GARD:0007628,Rare genetic disease +GARD:0019806,GARD:0022531,GARD:0020168,GARD:0021981,Rare genetic disease +GARD:0019807,GARD:0022531,GARD:0020168,GARD:0020320,Rare genetic disease +GARD:0019807,GARD:0022531,GARD:0020168,GARD:0020118,Rare genetic disease +GARD:0019807,GARD:0022523,GARD:0020168,GARD:0006140,Rare immune disease +GARD:0019807,GARD:0022523,GARD:0020168,GARD:0020112,Rare immune disease +GARD:0019807,GARD:0022531,GARD:0020168,GARD:0021513,Rare genetic disease +GARD:0019807,GARD:0022523,GARD:0020168,GARD:0021514,Rare immune disease 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genetic disease +GARD:0019809,GARD:0022531,GARD:0019808,GARD:0006229,Rare genetic disease +GARD:0019810,GARD:0022531,GARD:0019813,GARD:0021795,Rare genetic disease +GARD:0019810,GARD:0022523,GARD:0019813,GARD:0021795,Rare immune disease +GARD:0019810,GARD:0022531,GARD:0019813,GARD:0021509,Rare genetic disease +GARD:0019810,GARD:0022523,GARD:0019813,GARD:0019811,Rare immune disease +GARD:0019810,GARD:0022531,GARD:0019813,GARD:0020322,Rare genetic disease +GARD:0019810,GARD:0022531,GARD:0019813,GARD:0019808,Rare genetic disease +GARD:0019810,GARD:0022523,GARD:0019813,GARD:0020322,Rare immune disease +GARD:0019810,GARD:0022523,GARD:0019813,GARD:0021161,Rare immune disease +GARD:0019810,GARD:0022523,GARD:0019813,GARD:0019808,Rare immune disease +GARD:0019810,GARD:0022531,GARD:0019813,GARD:0021161,Rare genetic disease +GARD:0019810,GARD:0022531,GARD:0019813,GARD:0019811,Rare genetic disease +GARD:0019810,GARD:0022523,GARD:0019813,GARD:0021509,Rare immune disease 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disease +GARD:0019814,GARD:0022524,GARD:0022524,GARD:0020091,Rare neurologic disease +GARD:0019814,GARD:0022524,GARD:0022524,GARD:0020085,Rare neurologic disease +GARD:0019814,GARD:0022524,GARD:0022524,GARD:0020089,Rare neurologic disease +GARD:0019814,GARD:0022524,GARD:0022524,GARD:0020087,Rare neurologic disease +GARD:0019814,GARD:0022524,GARD:0022524,GARD:0020092,Rare neurologic disease +GARD:0019814,GARD:0022524,GARD:0022524,GARD:0020083,Rare neurologic disease +GARD:0019814,GARD:0022524,GARD:0022524,GARD:0020086,Rare neurologic disease +GARD:0019815,GARD:0022524,GARD:0022524,GARD:0001037,Rare neurologic disease +GARD:0019815,GARD:0022524,GARD:0022524,GARD:0007725,Rare neurologic disease +GARD:0019815,GARD:0022524,GARD:0022524,GARD:0019913,Rare neurologic disease +GARD:0019815,GARD:0022524,GARD:0022524,GARD:0013142,Rare neurologic disease +GARD:0019815,GARD:0022524,GARD:0022524,GARD:0018706,Rare neurologic disease +GARD:0019815,GARD:0022524,GARD:0022524,GARD:0019099,Rare neurologic disease +GARD:0019815,GARD:0022524,GARD:0022524,GARD:0003865,Rare neurologic disease +GARD:0019816,GARD:0022524,GARD:0022524,GARD:0020286,Rare neurologic disease +GARD:0019816,GARD:0022524,GARD:0022524,GARD:0020655,Rare neurologic disease +GARD:0019816,GARD:0022524,GARD:0022524,GARD:0020656,Rare neurologic disease +GARD:0019817,GARD:0022524,GARD:0022524,GARD:0021267,Rare neurologic disease +GARD:0019817,GARD:0022524,GARD:0022524,GARD:0021281,Rare neurologic disease +GARD:0019817,GARD:0022524,GARD:0022524,GARD:0012551,Rare neurologic disease +GARD:0019817,GARD:0022524,GARD:0022524,GARD:0018891,Rare neurologic disease +GARD:0019817,GARD:0022524,GARD:0022524,GARD:0021280,Rare neurologic disease +GARD:0019817,GARD:0022524,GARD:0022524,GARD:0022008,Rare neurologic disease +GARD:0019817,GARD:0022524,GARD:0022524,GARD:0005023,Rare neurologic disease +GARD:0019817,GARD:0022524,GARD:0022524,GARD:0018914,Rare neurologic disease +GARD:0019817,GARD:0022524,GARD:0022524,GARD:0012706,Rare neurologic disease +GARD:0019818,GARD:0022524,GARD:0020239,GARD:0007338,Rare neurologic disease +GARD:0019818,GARD:0022524,GARD:0020239,GARD:0018835,Rare neurologic disease +GARD:0019818,GARD:0022524,GARD:0020239,GARD:0013256,Rare neurologic disease +GARD:0019818,GARD:0022524,GARD:0020239,GARD:0006589,Rare neurologic disease +GARD:0019818,GARD:0022524,GARD:0020239,GARD:0019357,Rare neurologic disease +GARD:0019818,GARD:0022524,GARD:0020239,GARD:0002566,Rare neurologic disease +GARD:0019818,GARD:0022524,GARD:0020239,GARD:0010009,Rare neurologic disease +GARD:0019818,GARD:0022524,GARD:0020239,GARD:0021620,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0003020,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0016728,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0008338,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0005467,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0003012,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0019368,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0013641,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0004163,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0006626,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0011892,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0022145,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0021530,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0017161,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0000676,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0012662,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0018908,Rare neurologic disease +GARD:0019819,GARD:0022524,GARD:0018911,GARD:0007706,Rare neurologic disease +GARD:0019820,GARD:0022531,GARD:0012291,GARD:0012491,Rare genetic disease +GARD:0019820,GARD:0022531,GARD:0012291,GARD:0005279,Rare genetic disease +GARD:0019820,GARD:0022524,GARD:0012291,GARD:0012491,Rare neurologic disease +GARD:0019820,GARD:0022524,GARD:0012291,GARD:0005279,Rare neurologic disease +GARD:0019820,GARD:0022513,GARD:0012291,GARD:0005279,Rare developmental defect during embryogenesis +GARD:0019820,GARD:0022524,GARD:0012291,GARD:0005534,Rare neurologic disease +GARD:0019820,GARD:0022513,GARD:0012291,GARD:0012491,Rare developmental defect during embryogenesis +GARD:0019820,GARD:0022513,GARD:0012291,GARD:0005534,Rare developmental defect during embryogenesis +GARD:0019820,GARD:0022531,GARD:0012291,GARD:0001605,Rare genetic disease +GARD:0019820,GARD:0022531,GARD:0012291,GARD:0005534,Rare genetic disease +GARD:0019820,GARD:0022513,GARD:0012291,GARD:0001605,Rare developmental defect during embryogenesis +GARD:0019820,GARD:0022524,GARD:0012291,GARD:0001605,Rare neurologic disease +GARD:0019821,GARD:0022524,GARD:0012291,GARD:0016763,Rare neurologic disease +GARD:0019821,GARD:0022531,GARD:0012291,GARD:0016763,Rare genetic disease +GARD:0019821,GARD:0022531,GARD:0012291,GARD:0000102,Rare genetic disease +GARD:0019821,GARD:0022524,GARD:0012291,GARD:0000102,Rare neurologic disease +GARD:0019821,GARD:0022513,GARD:0012291,GARD:0016763,Rare developmental defect during embryogenesis +GARD:0019821,GARD:0022513,GARD:0012291,GARD:0019067,Rare developmental defect during embryogenesis +GARD:0019821,GARD:0022513,GARD:0012291,GARD:0000102,Rare developmental defect during embryogenesis +GARD:0019821,GARD:0022531,GARD:0012291,GARD:0019067,Rare genetic disease +GARD:0019821,GARD:0022524,GARD:0012291,GARD:0019067,Rare neurologic disease +GARD:0019822,GARD:0022524,GARD:0006637,GARD:0019773,Rare neurologic disease +GARD:0019822,GARD:0022531,GARD:0006637,GARD:0019773,Rare genetic disease +GARD:0019822,GARD:0022531,GARD:0006637,GARD:0019771,Rare genetic disease +GARD:0019822,GARD:0022524,GARD:0006637,GARD:0021428,Rare neurologic disease +GARD:0019822,GARD:0022531,GARD:0006637,GARD:0021428,Rare genetic disease +GARD:0019822,GARD:0022524,GARD:0006637,GARD:0019771,Rare neurologic disease +GARD:0019823,GARD:0022524,GARD:0006637,GARD:0021433,Rare neurologic disease +GARD:0019823,GARD:0022524,GARD:0006637,GARD:0019599,Rare neurologic disease +GARD:0019823,GARD:0022524,GARD:0006637,GARD:0019772,Rare neurologic disease +GARD:0019823,GARD:0022531,GARD:0006637,GARD:0019772,Rare genetic disease +GARD:0019823,GARD:0022531,GARD:0006637,GARD:0019770,Rare genetic disease +GARD:0019823,GARD:0022531,GARD:0006637,GARD:0021433,Rare genetic disease +GARD:0019823,GARD:0022524,GARD:0006637,GARD:0019770,Rare neurologic disease +GARD:0019823,GARD:0022531,GARD:0006637,GARD:0019599,Rare genetic disease +GARD:0019824,GARD:0022524,GARD:0006907,GARD:0012531,Rare neurologic disease +GARD:0019824,GARD:0022531,GARD:0006907,GARD:0012528,Rare genetic disease +GARD:0019824,GARD:0022524,GARD:0006907,GARD:0012532,Rare neurologic disease +GARD:0019824,GARD:0022531,GARD:0006907,GARD:0012532,Rare genetic disease +GARD:0019824,GARD:0022531,GARD:0006907,GARD:0012530,Rare genetic disease +GARD:0019824,GARD:0022531,GARD:0006907,GARD:0012531,Rare genetic disease +GARD:0019824,GARD:0022524,GARD:0006907,GARD:0012528,Rare neurologic disease +GARD:0019824,GARD:0022524,GARD:0006907,GARD:0022272,Rare neurologic disease +GARD:0019824,GARD:0022524,GARD:0006907,GARD:0012530,Rare neurologic disease +GARD:0019824,GARD:0022531,GARD:0006907,GARD:0022272,Rare genetic disease +GARD:0019824,GARD:0022531,GARD:0006907,GARD:0010229,Rare genetic disease +GARD:0019824,GARD:0022524,GARD:0006907,GARD:0010229,Rare neurologic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0012538,Rare neurologic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0012544,Rare genetic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0012534,Rare neurologic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0017519,Rare neurologic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0001057,Rare neurologic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0008574,Rare neurologic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0008573,Rare neurologic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0017834,Rare genetic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0012539,Rare genetic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0017869,Rare neurologic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0012534,Rare genetic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0012543,Rare genetic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0012535,Rare genetic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0010471,Rare genetic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0017769,Rare neurologic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0002429,Rare genetic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0003851,Rare neurologic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0001057,Rare genetic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0022271,Rare neurologic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0012541,Rare neurologic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0017847,Rare genetic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0017834,Rare neurologic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0012533,Rare genetic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0012541,Rare genetic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0017519,Rare genetic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0000438,Rare genetic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0012542,Rare genetic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0017769,Rare genetic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0012542,Rare neurologic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0012543,Rare neurologic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0012540,Rare neurologic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0012544,Rare neurologic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0017708,Rare neurologic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0017847,Rare neurologic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0010471,Rare neurologic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0003851,Rare genetic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0003844,Rare neurologic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0008573,Rare genetic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0002429,Rare neurologic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0012536,Rare neurologic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0017708,Rare genetic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0012540,Rare genetic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0022271,Rare genetic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0012538,Rare genetic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0022270,Rare neurologic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0012536,Rare genetic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0003844,Rare genetic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0000438,Rare neurologic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0022270,Rare genetic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0012539,Rare neurologic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0012533,Rare neurologic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0008574,Rare genetic disease +GARD:0019825,GARD:0022531,GARD:0006907,GARD:0017869,Rare genetic disease +GARD:0019825,GARD:0022524,GARD:0006907,GARD:0012535,Rare neurologic disease +GARD:0019826,GARD:0022531,GARD:0019417,GARD:0019422,Rare genetic disease +GARD:0019826,GARD:0022513,GARD:0019417,GARD:0019422,Rare developmental defect during embryogenesis +GARD:0019826,GARD:0022513,GARD:0019417,GARD:0019421,Rare developmental defect during embryogenesis +GARD:0019826,GARD:0022531,GARD:0019417,GARD:0019421,Rare genetic disease +GARD:0019827,GARD:0022509,GARD:0020044,GARD:0002092,Rare infectious disease +GARD:0019827,GARD:0022509,GARD:0020044,GARD:0019828,Rare infectious disease +GARD:0019827,GARD:0022509,GARD:0020044,GARD:0019829,Rare infectious disease +GARD:0019828,GARD:0022509,GARD:0019827,GARD:0019030,Rare infectious disease +GARD:0019828,GARD:0022509,GARD:0019827,GARD:0007585,Rare infectious disease +GARD:0019828,GARD:0022509,GARD:0019827,GARD:0019031,Rare infectious disease +GARD:0019828,GARD:0022509,GARD:0019827,GARD:0019781,Rare infectious disease +GARD:0019828,GARD:0022509,GARD:0019827,GARD:0019034,Rare infectious disease +GARD:0019829,GARD:0022509,GARD:0019827,GARD:0019032,Rare infectious disease +GARD:0019829,GARD:0022509,GARD:0019827,GARD:0019033,Rare infectious disease +GARD:0019830,GARD:0022535,GARD:0021145,GARD:0009247,Rare neoplastic disease +GARD:0019830,GARD:0022535,GARD:0021145,GARD:0022310,Rare neoplastic disease +GARD:0019830,GARD:0022535,GARD:0021145,GARD:0006814,Rare neoplastic disease +GARD:0019831,GARD:0022525,GARD:0019812,GARD:0012390,Rare systemic or rheumatologic disease +GARD:0019831,GARD:0022525,GARD:0019812,GARD:0005657,Rare systemic or rheumatologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005826,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004424,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004169,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008433,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013259,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017017,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004905,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017872,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013806,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008520,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009984,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010202,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013489,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017894,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000918,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005950,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012117,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017668,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000117,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005225,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004412,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004160,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018791,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002317,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005864,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000936,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008338,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003605,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000247,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005864,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003699,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002601,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005426,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003520,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005802,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012487,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007183,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021450,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012913,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0015000,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017542,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022010,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005560,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017566,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000587,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000247,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007239,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017310,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010775,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008449,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005808,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001002,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022458,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021816,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0019058,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013636,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017873,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018646,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000826,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001061,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021751,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001002,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002576,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012501,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000378,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003078,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000605,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013244,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005688,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006003,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004899,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010168,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000087,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001537,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006124,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004069,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003645,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003236,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021993,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007878,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000893,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017798,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006126,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002928,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006445,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009441,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007896,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021522,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017121,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001525,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018923,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000068,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003078,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003699,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001525,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001418,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009994,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009711,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010572,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001550,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001167,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004424,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013781,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017970,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000310,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016750,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006973,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004636,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017520,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021817,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002586,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009762,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016648,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017645,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012669,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017838,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016993,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007305,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017724,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008197,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005679,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021360,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017648,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0020779,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001537,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017803,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003426,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012166,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017896,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000080,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003318,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009673,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002572,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018019,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017872,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0020594,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016753,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004550,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012635,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0020125,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003413,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017548,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002576,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004482,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021859,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006802,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018022,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000028,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000971,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017953,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006665,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017884,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016709,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017583,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001237,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016751,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009849,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001810,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022326,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009977,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004870,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004017,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021875,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017502,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013655,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012291,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005036,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004305,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004488,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005826,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001548,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010996,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0019059,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007784,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021142,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004069,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002727,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009126,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017821,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018840,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003523,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0019055,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000895,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000358,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003889,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006425,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003609,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021705,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002765,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017121,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010341,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000400,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0019055,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005565,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003480,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004079,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003388,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012845,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017805,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017838,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000385,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004064,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004641,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012815,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000290,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021717,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003409,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021898,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000105,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012426,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007523,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021633,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022399,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005575,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0020687,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0015000,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002287,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004304,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000267,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005589,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017281,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021142,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017859,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007633,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003530,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000448,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006455,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002586,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022047,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013259,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000350,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017122,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006550,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003904,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002222,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000003,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003514,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005177,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017645,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016746,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021367,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017800,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005394,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017410,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010027,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004748,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017902,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016684,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016995,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002287,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017563,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018919,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003099,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017422,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004641,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010998,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016753,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006749,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000713,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013774,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007593,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017636,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016750,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000029,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016740,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005887,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004169,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003236,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017987,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010518,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002907,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021751,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004299,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017862,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000331,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003537,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010727,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017997,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000257,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001440,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018029,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010089,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001078,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0020054,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017611,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000065,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002409,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006950,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009675,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013638,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009842,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007097,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021556,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010169,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004863,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009292,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013806,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004776,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006802,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003964,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016598,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018015,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000280,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013032,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010169,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001810,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002113,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009704,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007523,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000272,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006465,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000385,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005394,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0019060,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017791,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016606,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021557,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000722,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009157,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004119,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010955,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009811,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017005,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017583,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010091,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013489,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010582,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021641,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000893,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021556,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012766,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005528,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010998,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009288,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001064,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004488,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004861,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017674,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008623,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017674,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006026,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016746,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012166,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0020594,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017007,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009981,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003300,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010296,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002178,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010573,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003480,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006465,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001516,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002725,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006866,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000371,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017584,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0019054,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000587,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005518,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017188,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000689,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022043,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017009,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005589,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017871,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018921,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004899,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017721,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022211,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017761,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004050,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016952,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0011985,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017310,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016578,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000117,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004010,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004305,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018001,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016567,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002727,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005810,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006973,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022071,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012291,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016586,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005565,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021360,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006290,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013032,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007387,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006290,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021585,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009850,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012931,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009455,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012845,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005266,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021753,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021858,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002725,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013431,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010592,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006749,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017730,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022367,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018921,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021817,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017739,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009156,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017816,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005584,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017885,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004372,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017112,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016578,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017902,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012486,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017808,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003169,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017873,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003141,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010130,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000243,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017505,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003505,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003406,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008407,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000331,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003223,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017885,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006866,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000494,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017992,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016640,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000448,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009163,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000270,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017668,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004636,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017832,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001608,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005266,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005833,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017219,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000409,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017923,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004119,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003448,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006985,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005036,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021717,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000381,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021583,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018767,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005456,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000882,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004034,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001440,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010572,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016606,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005121,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013527,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006122,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022417,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005453,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001899,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003084,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000354,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009842,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001443,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003566,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005177,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004121,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018020,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005121,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017666,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0020125,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021363,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001118,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016646,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018646,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022010,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003645,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000971,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003252,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017008,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000494,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021450,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013774,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003482,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003409,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003007,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017673,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000068,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016709,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003693,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012426,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009977,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017992,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004544,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017846,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000029,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016624,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004061,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017894,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005530,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021750,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002213,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018763,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010608,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008672,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000897,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018001,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000193,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017730,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000082,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005683,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021859,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0011985,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000690,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000496,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009981,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016742,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006123,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002213,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005066,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005677,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000605,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022071,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021437,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003902,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017721,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013390,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0019058,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013206,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017802,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000722,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006464,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000310,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012635,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017846,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006425,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017588,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010573,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005887,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004064,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000583,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017993,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000049,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003514,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000415,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000415,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003169,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021898,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006665,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016740,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008338,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016742,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005490,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017935,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005721,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012781,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000354,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022202,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000144,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005545,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003485,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003223,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003640,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000764,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017673,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012913,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010130,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018909,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017571,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017120,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000064,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016697,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017581,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001550,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016745,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017502,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016752,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005066,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000583,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010354,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007593,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022211,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0019056,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017987,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003904,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001410,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017997,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009991,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005739,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017281,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009673,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017944,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003524,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013388,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017911,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000087,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000062,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005453,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000411,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017609,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017666,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007917,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010140,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016553,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022350,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021441,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005539,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012486,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004303,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010247,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003530,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004568,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003566,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018016,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003610,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000860,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021521,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002230,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018764,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018032,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017808,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021706,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010518,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021441,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010719,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017816,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013781,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012931,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005398,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002178,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010056,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017630,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000713,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016646,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004304,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018032,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022435,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002344,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000409,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000243,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000288,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008423,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017009,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005676,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016553,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004775,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010091,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018025,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017575,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005545,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013043,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012669,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017814,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003505,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009984,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017960,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005225,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013388,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000312,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0019060,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017942,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022043,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017008,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003523,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017328,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002168,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018024,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022070,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000344,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009163,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021522,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017375,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017903,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001578,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0020687,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021918,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017988,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012405,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017219,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000118,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001118,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017636,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003242,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021379,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005584,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017859,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003609,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005518,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009811,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010608,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022436,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013244,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017301,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003406,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004709,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017955,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003889,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001210,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016640,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000918,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017948,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003615,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004778,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017112,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008428,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017815,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017630,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017993,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017584,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002572,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000230,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017985,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022070,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000344,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018926,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005528,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017895,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005611,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000330,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000496,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021904,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017315,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017006,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000690,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012559,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005688,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008197,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017648,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005238,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021057,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017824,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000955,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001210,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005679,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017850,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001163,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007890,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008549,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017422,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003902,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000229,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004628,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017898,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006124,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005611,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005579,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004775,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016603,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003596,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021858,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017122,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004776,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017761,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001061,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017592,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018764,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001418,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018016,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018020,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010727,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007878,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003424,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010892,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007801,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017505,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009994,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017328,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016624,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000144,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010145,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012766,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009126,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017139,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009178,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000118,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022397,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004683,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008586,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007891,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008549,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013789,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013390,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007239,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005615,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012777,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017814,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005539,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004375,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018019,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001322,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000270,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004017,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018791,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000836,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009850,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004299,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010354,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007183,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017120,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017301,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0019056,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005666,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005426,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016075,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017680,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000257,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004238,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016752,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022371,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018767,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022326,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004034,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002168,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010109,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016993,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017821,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016845,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017410,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017611,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017558,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003520,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018840,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010140,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016586,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021993,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003627,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002344,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005238,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003524,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022048,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0019057,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008449,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022009,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022370,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000371,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005739,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002113,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022366,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000239,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004568,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016602,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005683,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017007,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013638,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017724,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001515,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018022,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017884,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017923,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005677,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016761,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018909,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012641,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017969,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017988,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021816,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010168,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006464,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002409,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010592,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009781,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004856,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005575,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021599,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003426,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007161,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000955,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021057,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018774,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000290,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017948,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004412,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008422,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021633,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000229,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000897,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022366,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010296,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017687,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017924,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021750,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000860,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004628,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000280,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016952,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021906,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021443,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009146,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0020054,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016567,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017947,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000049,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000248,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017680,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016751,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004061,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021443,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001443,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000689,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021437,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003318,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021521,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017620,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017824,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005808,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003448,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017566,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017896,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004121,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012405,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017687,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017935,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017871,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017947,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012777,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000230,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017709,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010341,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016845,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005490,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000288,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000028,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007649,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017898,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003627,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006123,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006026,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004544,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017006,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013043,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009509,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013636,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004372,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017571,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017815,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005398,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008585,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005676,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000764,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017609,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009292,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004683,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003537,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000192,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004375,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003491,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007801,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007161,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002317,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002222,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004482,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017921,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008423,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010027,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021641,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004861,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002928,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016995,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008329,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000003,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012815,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000358,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007305,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008585,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022458,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005721,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003519,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016075,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006455,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017817,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004709,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009288,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017709,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017742,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017998,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007890,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018919,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013655,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0019053,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003607,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018025,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000192,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022435,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017423,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000248,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018031,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006295,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001167,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004778,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0019054,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022047,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003307,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008520,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005978,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022048,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018818,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004160,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013811,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009509,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009849,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018024,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013206,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017592,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006445,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006457,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017548,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017805,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001516,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013431,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002044,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006295,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003701,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008586,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016598,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010299,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003610,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021706,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012814,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010719,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006122,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017921,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002765,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009675,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000826,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000172,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016602,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002230,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009146,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016648,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017800,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017563,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000400,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003084,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005802,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000882,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006457,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010011,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0019247,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008422,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009711,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021599,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008407,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021367,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003596,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003413,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010283,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004050,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003491,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016744,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021906,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008428,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017742,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006126,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017791,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022371,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010996,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016645,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001899,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010056,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001133,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004010,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018926,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003659,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002601,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022312,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017942,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017423,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000330,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005530,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010145,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010299,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021705,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021363,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010775,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013177,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017970,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018818,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000816,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003424,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016684,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017581,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021585,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003701,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003242,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001515,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017945,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000381,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022009,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017017,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017969,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018029,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017850,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000958,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002523,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007896,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012501,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003964,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009947,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016645,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003605,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009455,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003141,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003693,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010109,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005615,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006003,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013789,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018031,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000239,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022312,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022370,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007633,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005810,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003485,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017944,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017739,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017542,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005456,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0020779,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012641,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009156,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001608,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017817,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004079,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0002044,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000958,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001237,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0019247,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017802,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000739,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001392,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003607,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017797,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007784,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021737,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017315,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017955,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004870,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002907,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010283,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012814,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0018015,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012559,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003615,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013177,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0013527,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010955,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005833,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022202,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008623,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000345,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000080,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001392,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003252,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000065,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017520,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0010247,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0019053,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017911,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017375,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000350,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010892,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010011,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021232,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018923,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0012117,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004856,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003482,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001163,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003007,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004303,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021379,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007387,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005950,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017716,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009762,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006950,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004120,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0006810,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009157,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005026,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0008672,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004863,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006985,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022399,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017803,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017960,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009947,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003449,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010582,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001548,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009441,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017998,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000312,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010089,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000895,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017895,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004905,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004748,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012487,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017953,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009704,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001064,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017188,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022350,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017588,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001410,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017785,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004550,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003449,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000936,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001078,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017716,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022417,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003300,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0009991,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007649,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000105,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021918,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0007917,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007891,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017620,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005560,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005978,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009178,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000816,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016697,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017903,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021875,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021232,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008329,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0019059,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005026,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000062,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016744,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000411,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0005666,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003519,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018763,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021117,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0007097,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000193,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000739,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017785,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017797,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000267,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003099,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017139,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001133,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022367,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0022397,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003388,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021117,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0009781,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000172,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016761,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000272,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017832,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021753,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017924,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0016603,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0022436,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0018774,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021557,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0016745,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000082,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000378,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0004238,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0019057,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000836,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003659,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017862,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0003307,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017005,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0013811,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0001578,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017575,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0004120,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017945,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0017985,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0000345,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0021904,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021583,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017798,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0003640,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0017558,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006550,Rare neurologic disease +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0002523,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0008433,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022513,GARD:0018876,GARD:0005579,Rare developmental defect during embryogenesis +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0000064,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0021737,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0006810,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0010202,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0001322,Rare neurologic disease +GARD:0019832,GARD:0022524,GARD:0019834,GARD:0012781,Rare neurologic disease +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0004718,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0022284,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002742,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002728,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000061,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0016652,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000480,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000320,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000498,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0019679,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0004722,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0010319,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005554,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0001068,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003943,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0009177,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002594,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0017184,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005525,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0013708,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003994,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002397,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0010595,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000267,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0001666,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0010354,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0008410,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005642,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0007111,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0004014,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0006848,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0016612,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000374,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0001067,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003395,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0006425,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0012644,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0001571,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0017961,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000066,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003212,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0017633,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0018759,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0008414,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0001428,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0001261,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000216,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003604,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0009124,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0008755,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005202,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002633,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0007011,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003086,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000905,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0017913,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0022068,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002613,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0001425,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0007784,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002908,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0016562,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0010041,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0004465,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0001671,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0012074,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0017116,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0001686,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000957,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0010295,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0004936,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002553,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005472,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002384,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0004166,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005126,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0006465,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0001100,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000514,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0010528,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0010147,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0006992,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0004223,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000448,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003904,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0009487,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003227,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000804,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0017889,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005469,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002700,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0001894,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0009818,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0006466,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0018933,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002930,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000819,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0004969,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0006984,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0004873,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0016686,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0010081,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0001418,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0016697,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0006666,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000435,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003653,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0006885,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000588,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003427,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005430,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0016551,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000469,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000258,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002460,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0004428,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000386,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0004170,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005482,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002960,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002390,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002098,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002276,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000237,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003382,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000157,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002605,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005123,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003552,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002549,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000717,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0010148,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0009634,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0006039,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000719,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002614,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0019045,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000497,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003075,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0007359,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005021,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000787,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0019044,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003927,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000713,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005443,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000287,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0018760,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000405,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0011893,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005667,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002221,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0009847,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000159,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0001391,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0004638,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000360,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000332,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0006036,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003430,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000296,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003060,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005175,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0016647,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0003440,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005701,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0004637,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0021364,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000201,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005210,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0002071,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0008174,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0000846,Rare developmental defect during embryogenesis +GARD:0019833,GARD:0022513,GARD:0018876,GARD:0005124,Rare developmental defect during embryogenesis +GARD:0019834,GARD:0022524,GARD:0019090,GARD:0019832,Rare neurologic disease +GARD:0019834,GARD:0022524,GARD:0019090,GARD:0022440,Rare neurologic disease +GARD:0019835,GARD:0022535,GARD:0012762,,Rare neoplastic disease +GARD:0019835,GARD:0022536,GARD:0012762,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019835,GARD:0022522,GARD:0012762,,Rare hematologic disease +GARD:0019836,GARD:0022536,GARD:0012762,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019836,GARD:0022522,GARD:0012762,,Rare hematologic disease +GARD:0019836,GARD:0022535,GARD:0012762,,Rare neoplastic disease +GARD:0019837,GARD:0022535,GARD:0012758,,Rare neoplastic disease +GARD:0019837,GARD:0022522,GARD:0012758,,Rare hematologic disease +GARD:0019837,GARD:0022536,GARD:0012758,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019838,GARD:0022531,GARD:0019844,,Rare genetic disease +GARD:0019838,GARD:0022516,GARD:0019844,,Rare gastroenterologic disease +GARD:0019838,GARD:0022508,GARD:0021313,,Rare inborn errors of metabolism +GARD:0019838,GARD:0022531,GARD:0021313,,Rare genetic disease +GARD:0019839,GARD:0022531,GARD:0019845,,Rare genetic disease +GARD:0019839,GARD:0022536,GARD:0019845,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019839,GARD:0022516,GARD:0019845,,Rare gastroenterologic disease +GARD:0019840,GARD:0022516,GARD:0019849,,Rare gastroenterologic disease +GARD:0019840,GARD:0022536,GARD:0019849,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019841,GARD:0022536,GARD:0022062,GARD:0006521,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019841,GARD:0022516,GARD:0019873,GARD:0016945,Rare gastroenterologic disease +GARD:0019841,GARD:0022516,GARD:0019873,GARD:0006622,Rare gastroenterologic disease +GARD:0019841,GARD:0022531,GARD:0020060,GARD:0022262,Rare genetic disease +GARD:0019841,GARD:0022516,GARD:0019873,GARD:0022262,Rare gastroenterologic disease +GARD:0019841,GARD:0022516,GARD:0019873,GARD:0010001,Rare gastroenterologic disease +GARD:0019841,GARD:0022536,GARD:0022062,GARD:0010001,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019841,GARD:0022536,GARD:0022062,GARD:0006622,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019841,GARD:0022536,GARD:0022062,GARD:0016945,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019841,GARD:0022536,GARD:0022062,GARD:0022262,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019841,GARD:0022531,GARD:0020060,GARD:0006521,Rare genetic disease +GARD:0019841,GARD:0022516,GARD:0019873,GARD:0006521,Rare gastroenterologic disease +GARD:0019841,GARD:0022531,GARD:0020060,GARD:0016945,Rare genetic disease +GARD:0019841,GARD:0022531,GARD:0020060,GARD:0006622,Rare genetic disease +GARD:0019841,GARD:0022531,GARD:0020060,GARD:0010001,Rare genetic disease +GARD:0019842,GARD:0022516,GARD:0019873,GARD:0012983,Rare gastroenterologic disease +GARD:0019842,GARD:0022516,GARD:0019873,GARD:0007006,Rare gastroenterologic disease +GARD:0019842,GARD:0022531,GARD:0020060,GARD:0007006,Rare genetic disease +GARD:0019842,GARD:0022531,GARD:0020060,GARD:0012983,Rare genetic disease +GARD:0019843,GARD:0022516,GARD:0019873,GARD:0009683,Rare gastroenterologic disease +GARD:0019843,GARD:0022516,GARD:0019873,GARD:0019046,Rare gastroenterologic disease +GARD:0019843,GARD:0022516,GARD:0019873,GARD:0000005,Rare gastroenterologic disease +GARD:0019843,GARD:0022516,GARD:0019873,GARD:0005723,Rare gastroenterologic disease +GARD:0019844,GARD:0022516,GARD:0019873,GARD:0007710,Rare gastroenterologic disease +GARD:0019844,GARD:0022516,GARD:0019873,GARD:0012311,Rare gastroenterologic disease +GARD:0019844,GARD:0022531,GARD:0020060,GARD:0017038,Rare genetic disease +GARD:0019844,GARD:0022531,GARD:0020060,GARD:0019838,Rare genetic disease +GARD:0019844,GARD:0022516,GARD:0019873,GARD:0010372,Rare gastroenterologic disease +GARD:0019844,GARD:0022516,GARD:0019873,GARD:0017038,Rare gastroenterologic disease +GARD:0019844,GARD:0022531,GARD:0020060,GARD:0007710,Rare genetic disease +GARD:0019844,GARD:0022531,GARD:0020060,GARD:0010372,Rare genetic disease +GARD:0019844,GARD:0022516,GARD:0019873,GARD:0019838,Rare gastroenterologic disease +GARD:0019844,GARD:0022531,GARD:0020060,GARD:0012311,Rare genetic disease +GARD:0019845,GARD:0022531,GARD:0020060,GARD:0019839,Rare genetic disease +GARD:0019845,GARD:0022516,GARD:0019873,GARD:0007039,Rare gastroenterologic disease +GARD:0019845,GARD:0022516,GARD:0019873,GARD:0010630,Rare gastroenterologic disease +GARD:0019845,GARD:0022536,GARD:0022062,GARD:0007039,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019845,GARD:0022516,GARD:0019873,GARD:0019839,Rare gastroenterologic disease +GARD:0019845,GARD:0022531,GARD:0020060,GARD:0016729,Rare genetic disease +GARD:0019845,GARD:0022531,GARD:0020060,GARD:0007039,Rare genetic disease +GARD:0019845,GARD:0022536,GARD:0022062,GARD:0010630,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019845,GARD:0022536,GARD:0022062,GARD:0019839,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019845,GARD:0022536,GARD:0022062,GARD:0016729,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019845,GARD:0022531,GARD:0020060,GARD:0010630,Rare genetic disease +GARD:0019845,GARD:0022516,GARD:0019873,GARD:0016729,Rare gastroenterologic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0000584,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0017418,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0016909,Rare genetic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0012811,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0012811,Rare genetic disease +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0002700,Rare gastroenterologic disease +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0005496,Rare genetic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0017004,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0017004,Rare gastroenterologic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0002695,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0017417,Rare gastroenterologic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0002700,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0009849,Rare gastroenterologic disease +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0017418,Rare gastroenterologic disease +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0006866,Rare genetic disease +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0003442,Rare genetic disease +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0012811,Rare gastroenterologic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0006866,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0000157,Rare genetic disease +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0000584,Rare gastroenterologic disease +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0002695,Rare gastroenterologic disease +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0005524,Rare genetic disease +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0009849,Rare genetic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0003443,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0003442,Rare gastroenterologic disease +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0002700,Rare genetic disease +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0006866,Rare gastroenterologic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0012744,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0012744,Rare genetic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0003442,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0006660,Rare gastroenterologic disease +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0017417,Rare genetic disease +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0003443,Rare genetic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0005524,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0002695,Rare genetic disease +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0005496,Rare gastroenterologic disease +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0005524,Rare gastroenterologic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0017417,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0009849,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0016909,Rare gastroenterologic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0006660,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0003443,Rare gastroenterologic disease +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0000584,Rare genetic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0005496,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0000157,Rare gastroenterologic disease +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0017004,Rare genetic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0016909,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022516,GARD:0019873,GARD:0012744,Rare gastroenterologic disease +GARD:0019846,GARD:0022536,GARD:0022062,GARD:0000157,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0006660,Rare genetic disease +GARD:0019846,GARD:0022531,GARD:0020060,GARD:0017418,Rare genetic disease +GARD:0019847,GARD:0022516,GARD:0021793,GARD:0016982,Rare gastroenterologic disease +GARD:0019847,GARD:0022535,GARD:0021793,GARD:0005887,Rare neoplastic disease +GARD:0019847,GARD:0022516,GARD:0021793,GARD:0003065,Rare gastroenterologic disease +GARD:0019847,GARD:0022531,GARD:0021793,GARD:0016981,Rare genetic disease +GARD:0019847,GARD:0022536,GARD:0022062,GARD:0016981,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019847,GARD:0022536,GARD:0022062,GARD:0003065,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019847,GARD:0022535,GARD:0021793,GARD:0007378,Rare neoplastic disease +GARD:0019847,GARD:0022531,GARD:0021793,GARD:0006408,Rare genetic disease +GARD:0019847,GARD:0022535,GARD:0021793,GARD:0016982,Rare neoplastic disease +GARD:0019847,GARD:0022535,GARD:0021793,GARD:0016981,Rare neoplastic disease +GARD:0019847,GARD:0022536,GARD:0022062,GARD:0007378,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019847,GARD:0022516,GARD:0021793,GARD:0008532,Rare gastroenterologic disease +GARD:0019847,GARD:0022535,GARD:0021793,GARD:0006202,Rare neoplastic disease +GARD:0019847,GARD:0022536,GARD:0022062,GARD:0016982,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019847,GARD:0022536,GARD:0022062,GARD:0008532,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019847,GARD:0022516,GARD:0021793,GARD:0006202,Rare gastroenterologic disease +GARD:0019847,GARD:0022531,GARD:0021793,GARD:0006202,Rare genetic disease +GARD:0019847,GARD:0022531,GARD:0021793,GARD:0005887,Rare genetic disease +GARD:0019847,GARD:0022536,GARD:0022062,GARD:0005887,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019847,GARD:0022531,GARD:0021793,GARD:0004427,Rare genetic disease +GARD:0019847,GARD:0022531,GARD:0021793,GARD:0016982,Rare genetic disease +GARD:0019847,GARD:0022531,GARD:0021793,GARD:0008532,Rare genetic disease +GARD:0019847,GARD:0022516,GARD:0021793,GARD:0005887,Rare gastroenterologic disease +GARD:0019847,GARD:0022535,GARD:0021793,GARD:0006408,Rare neoplastic disease +GARD:0019847,GARD:0022535,GARD:0021793,GARD:0004427,Rare neoplastic disease +GARD:0019847,GARD:0022536,GARD:0022062,GARD:0004427,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019847,GARD:0022516,GARD:0021793,GARD:0004427,Rare gastroenterologic disease +GARD:0019847,GARD:0022516,GARD:0021793,GARD:0006408,Rare gastroenterologic disease +GARD:0019847,GARD:0022531,GARD:0021793,GARD:0003065,Rare genetic disease +GARD:0019847,GARD:0022531,GARD:0021793,GARD:0007378,Rare genetic disease +GARD:0019847,GARD:0022536,GARD:0022062,GARD:0006408,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019847,GARD:0022516,GARD:0021793,GARD:0016981,Rare gastroenterologic disease +GARD:0019847,GARD:0022535,GARD:0021793,GARD:0008532,Rare neoplastic disease +GARD:0019847,GARD:0022516,GARD:0021793,GARD:0007378,Rare gastroenterologic disease +GARD:0019847,GARD:0022535,GARD:0021793,GARD:0003065,Rare neoplastic disease +GARD:0019847,GARD:0022536,GARD:0022062,GARD:0006202,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019848,GARD:0022536,GARD:0022062,GARD:0021766,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019848,GARD:0022516,GARD:0019873,GARD:0021769,Rare gastroenterologic disease +GARD:0019848,GARD:0022536,GARD:0022062,GARD:0021767,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019848,GARD:0022516,GARD:0019873,GARD:0021767,Rare gastroenterologic disease +GARD:0019848,GARD:0022535,GARD:0019403,GARD:0021766,Rare neoplastic disease +GARD:0019848,GARD:0022536,GARD:0022062,GARD:0021769,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019848,GARD:0022516,GARD:0019873,GARD:0021771,Rare gastroenterologic disease +GARD:0019848,GARD:0022516,GARD:0019873,GARD:0021766,Rare gastroenterologic disease +GARD:0019848,GARD:0022535,GARD:0019403,GARD:0021767,Rare neoplastic disease +GARD:0019848,GARD:0022536,GARD:0022062,GARD:0021771,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019848,GARD:0022535,GARD:0019403,GARD:0021771,Rare neoplastic disease +GARD:0019848,GARD:0022516,GARD:0019873,GARD:0021760,Rare gastroenterologic disease +GARD:0019848,GARD:0022535,GARD:0019403,GARD:0021769,Rare neoplastic disease +GARD:0019848,GARD:0022535,GARD:0019403,GARD:0021760,Rare neoplastic disease +GARD:0019848,GARD:0022536,GARD:0022062,GARD:0021760,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019849,GARD:0022516,GARD:0019873,GARD:0001633,Rare gastroenterologic disease +GARD:0019849,GARD:0022536,GARD:0022062,GARD:0022400,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019849,GARD:0022516,GARD:0019873,GARD:0019840,Rare gastroenterologic disease +GARD:0019849,GARD:0022516,GARD:0019873,GARD:0022203,Rare gastroenterologic disease +GARD:0019849,GARD:0022536,GARD:0022062,GARD:0019840,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019849,GARD:0022536,GARD:0022062,GARD:0001633,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019849,GARD:0022536,GARD:0022062,GARD:0020038,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019849,GARD:0022516,GARD:0019873,GARD:0006100,Rare gastroenterologic disease +GARD:0019849,GARD:0022536,GARD:0022062,GARD:0010916,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019849,GARD:0022516,GARD:0019873,GARD:0022395,Rare gastroenterologic disease +GARD:0019849,GARD:0022516,GARD:0019873,GARD:0017355,Rare gastroenterologic disease +GARD:0019849,GARD:0022516,GARD:0019873,GARD:0020038,Rare gastroenterologic disease +GARD:0019849,GARD:0022516,GARD:0019873,GARD:0017852,Rare gastroenterologic disease +GARD:0019849,GARD:0022516,GARD:0019873,GARD:0015003,Rare gastroenterologic disease +GARD:0019849,GARD:0022536,GARD:0022062,GARD:0015003,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019849,GARD:0022536,GARD:0022062,GARD:0022395,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019849,GARD:0022536,GARD:0022062,GARD:0006100,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019849,GARD:0022536,GARD:0022062,GARD:0009767,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019849,GARD:0022536,GARD:0022062,GARD:0017852,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019849,GARD:0022516,GARD:0019873,GARD:0010916,Rare gastroenterologic disease +GARD:0019849,GARD:0022516,GARD:0019873,GARD:0009767,Rare gastroenterologic disease +GARD:0019849,GARD:0022536,GARD:0022062,GARD:0017355,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019849,GARD:0022536,GARD:0022062,GARD:0022203,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019849,GARD:0022516,GARD:0019873,GARD:0022400,Rare gastroenterologic disease +GARD:0019850,GARD:0022531,GARD:0020060,GARD:0007343,Rare genetic disease +GARD:0019850,GARD:0022531,GARD:0020060,GARD:0021608,Rare genetic disease +GARD:0019850,GARD:0022516,GARD:0019873,GARD:0009920,Rare gastroenterologic disease +GARD:0019850,GARD:0022516,GARD:0019873,GARD:0021608,Rare gastroenterologic disease +GARD:0019850,GARD:0022516,GARD:0019873,GARD:0007343,Rare gastroenterologic disease +GARD:0019850,GARD:0022531,GARD:0020060,GARD:0009920,Rare genetic disease +GARD:0019850,GARD:0022531,GARD:0020060,GARD:0013643,Rare genetic disease +GARD:0019851,GARD:0022536,GARD:0021763,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019851,GARD:0022535,GARD:0021763,,Rare neoplastic disease +GARD:0019851,GARD:0022516,GARD:0021763,,Rare gastroenterologic disease +GARD:0019852,GARD:0022536,GARD:0021761,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019852,GARD:0022516,GARD:0021761,,Rare gastroenterologic disease +GARD:0019852,GARD:0022535,GARD:0021761,,Rare neoplastic disease +GARD:0019853,GARD:0022516,GARD:0012744,,Rare gastroenterologic disease +GARD:0019853,GARD:0022531,GARD:0012744,,Rare genetic disease +GARD:0019853,GARD:0022536,GARD:0012744,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019854,GARD:0022536,GARD:0012744,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019854,GARD:0022516,GARD:0012744,,Rare gastroenterologic disease +GARD:0019854,GARD:0022531,GARD:0012744,,Rare genetic disease +GARD:0019855,GARD:0022534,GARD:0019095,GARD:0006381,Rare abdominal surgical disease +GARD:0019855,GARD:0022513,GARD:0019095,GARD:0003188,Rare developmental defect during embryogenesis +GARD:0019855,GARD:0022513,GARD:0019095,GARD:0019164,Rare developmental defect during embryogenesis +GARD:0019855,GARD:0022531,GARD:0019095,GARD:0019164,Rare genetic disease +GARD:0019855,GARD:0022534,GARD:0019095,GARD:0021895,Rare abdominal surgical disease +GARD:0019855,GARD:0022531,GARD:0019095,GARD:0019165,Rare genetic disease +GARD:0019855,GARD:0022513,GARD:0019095,GARD:0021895,Rare developmental defect during embryogenesis +GARD:0019855,GARD:0022513,GARD:0019095,GARD:0019165,Rare developmental defect during embryogenesis +GARD:0019855,GARD:0022534,GARD:0019095,GARD:0003188,Rare abdominal surgical disease +GARD:0019855,GARD:0022534,GARD:0019095,GARD:0019165,Rare abdominal surgical disease +GARD:0019855,GARD:0022513,GARD:0019095,GARD:0006381,Rare developmental defect during embryogenesis +GARD:0019855,GARD:0022534,GARD:0019095,GARD:0019164,Rare abdominal surgical disease +GARD:0019856,GARD:0022534,GARD:0019095,GARD:0022076,Rare abdominal surgical disease +GARD:0019856,GARD:0022534,GARD:0019095,GARD:0000456,Rare abdominal surgical disease +GARD:0019856,GARD:0022513,GARD:0019095,GARD:0000456,Rare developmental defect during embryogenesis +GARD:0019856,GARD:0022534,GARD:0019095,GARD:0001443,Rare abdominal surgical disease +GARD:0019856,GARD:0022534,GARD:0019095,GARD:0000457,Rare abdominal surgical disease +GARD:0019856,GARD:0022513,GARD:0019095,GARD:0022076,Rare developmental defect during embryogenesis +GARD:0019856,GARD:0022513,GARD:0019095,GARD:0000457,Rare developmental defect during embryogenesis +GARD:0019856,GARD:0022513,GARD:0019095,GARD:0001443,Rare developmental defect during embryogenesis +GARD:0019856,GARD:0022513,GARD:0019095,GARD:0005443,Rare developmental defect during embryogenesis +GARD:0019856,GARD:0022513,GARD:0019095,GARD:0008407,Rare developmental defect during embryogenesis +GARD:0019856,GARD:0022534,GARD:0019095,GARD:0005443,Rare abdominal surgical disease +GARD:0019856,GARD:0022534,GARD:0019095,GARD:0008407,Rare abdominal surgical disease +GARD:0019857,GARD:0022534,GARD:0019383,GARD:0020330,Rare abdominal surgical disease +GARD:0019857,GARD:0022531,GARD:0019383,GARD:0000054,Rare genetic disease +GARD:0019857,GARD:0022513,GARD:0019383,GARD:0000054,Rare developmental defect during embryogenesis +GARD:0019857,GARD:0022513,GARD:0019383,GARD:0020330,Rare developmental defect during embryogenesis +GARD:0019857,GARD:0022534,GARD:0019383,GARD:0000054,Rare abdominal surgical disease +GARD:0019858,GARD:0022534,GARD:0019383,GARD:0003640,Rare abdominal surgical disease +GARD:0019858,GARD:0022534,GARD:0019383,GARD:0008407,Rare abdominal surgical disease +GARD:0019858,GARD:0022513,GARD:0019383,GARD:0003640,Rare developmental defect during embryogenesis +GARD:0019858,GARD:0022531,GARD:0019383,GARD:0008407,Rare genetic disease +GARD:0019858,GARD:0022513,GARD:0019383,GARD:0008407,Rare developmental defect during embryogenesis +GARD:0019859,GARD:0022536,GARD:0019384,GARD:0016592,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019859,GARD:0022536,GARD:0019384,GARD:0001446,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019859,GARD:0022513,GARD:0019384,GARD:0022067,Rare developmental defect during embryogenesis +GARD:0019859,GARD:0022534,GARD:0019384,GARD:0022067,Rare abdominal surgical disease +GARD:0019859,GARD:0022513,GARD:0019384,GARD:0000140,Rare developmental defect during embryogenesis +GARD:0019859,GARD:0022531,GARD:0019384,GARD:0016592,Rare genetic disease +GARD:0019859,GARD:0022513,GARD:0019384,GARD:0018684,Rare developmental defect during embryogenesis +GARD:0019859,GARD:0022534,GARD:0019384,GARD:0001446,Rare abdominal surgical disease +GARD:0019859,GARD:0022531,GARD:0019384,GARD:0000054,Rare genetic disease +GARD:0019859,GARD:0022536,GARD:0019384,GARD:0018684,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019859,GARD:0022536,GARD:0019384,GARD:0022067,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019859,GARD:0022531,GARD:0019384,GARD:0022067,Rare genetic disease +GARD:0019859,GARD:0022536,GARD:0019384,GARD:0000140,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019859,GARD:0022513,GARD:0019384,GARD:0016592,Rare developmental defect during embryogenesis +GARD:0019859,GARD:0022534,GARD:0019384,GARD:0000140,Rare abdominal surgical disease +GARD:0019859,GARD:0022534,GARD:0019384,GARD:0003013,Rare abdominal surgical disease +GARD:0019859,GARD:0022531,GARD:0019384,GARD:0000140,Rare genetic disease +GARD:0019859,GARD:0022513,GARD:0019384,GARD:0000054,Rare developmental defect during embryogenesis +GARD:0019859,GARD:0022534,GARD:0019384,GARD:0018684,Rare abdominal surgical disease +GARD:0019859,GARD:0022531,GARD:0019384,GARD:0018684,Rare genetic disease +GARD:0019859,GARD:0022513,GARD:0019384,GARD:0001446,Rare developmental defect during embryogenesis +GARD:0019859,GARD:0022531,GARD:0019384,GARD:0003013,Rare genetic disease +GARD:0019859,GARD:0022513,GARD:0019384,GARD:0003013,Rare developmental defect during embryogenesis +GARD:0019859,GARD:0022531,GARD:0019384,GARD:0001446,Rare genetic disease +GARD:0019859,GARD:0022534,GARD:0019384,GARD:0016592,Rare abdominal surgical disease +GARD:0019859,GARD:0022536,GARD:0019384,GARD:0000054,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019859,GARD:0022536,GARD:0019384,GARD:0003013,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019859,GARD:0022534,GARD:0019384,GARD:0000054,Rare abdominal surgical disease +GARD:0019860,GARD:0022534,GARD:0019384,GARD:0022248,Rare abdominal surgical disease +GARD:0019860,GARD:0022534,GARD:0019384,GARD:0003401,Rare abdominal surgical disease +GARD:0019860,GARD:0022513,GARD:0019384,GARD:0017731,Rare developmental defect during embryogenesis +GARD:0019860,GARD:0022536,GARD:0019384,GARD:0017945,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019860,GARD:0022534,GARD:0019384,GARD:0005181,Rare abdominal surgical disease +GARD:0019860,GARD:0022531,GARD:0019384,GARD:0003401,Rare genetic disease +GARD:0019860,GARD:0022513,GARD:0019384,GARD:0022248,Rare developmental defect during embryogenesis +GARD:0019860,GARD:0022531,GARD:0019384,GARD:0017731,Rare genetic disease +GARD:0019860,GARD:0022513,GARD:0019384,GARD:0017945,Rare developmental defect during embryogenesis +GARD:0019860,GARD:0022513,GARD:0019384,GARD:0005403,Rare developmental defect during embryogenesis +GARD:0019860,GARD:0022513,GARD:0019384,GARD:0003401,Rare developmental defect during embryogenesis +GARD:0019860,GARD:0022531,GARD:0019384,GARD:0022193,Rare genetic disease +GARD:0019860,GARD:0022536,GARD:0019384,GARD:0005181,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019860,GARD:0022534,GARD:0019384,GARD:0017731,Rare abdominal surgical disease +GARD:0019860,GARD:0022534,GARD:0019384,GARD:0017945,Rare abdominal surgical disease +GARD:0019860,GARD:0022531,GARD:0019384,GARD:0005181,Rare genetic disease +GARD:0019860,GARD:0022531,GARD:0019384,GARD:0017945,Rare genetic disease +GARD:0019860,GARD:0022536,GARD:0019384,GARD:0005237,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019860,GARD:0022513,GARD:0019384,GARD:0005237,Rare developmental defect during embryogenesis +GARD:0019860,GARD:0022534,GARD:0019384,GARD:0005237,Rare abdominal surgical disease +GARD:0019860,GARD:0022513,GARD:0019384,GARD:0005181,Rare developmental defect during embryogenesis +GARD:0019860,GARD:0022534,GARD:0019384,GARD:0005403,Rare abdominal surgical disease +GARD:0019860,GARD:0022536,GARD:0019384,GARD:0022248,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019860,GARD:0022536,GARD:0019384,GARD:0003401,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019860,GARD:0022531,GARD:0019384,GARD:0022248,Rare genetic disease +GARD:0019860,GARD:0022531,GARD:0019384,GARD:0005403,Rare genetic disease +GARD:0019860,GARD:0022531,GARD:0019384,GARD:0005237,Rare genetic disease +GARD:0019860,GARD:0022536,GARD:0019384,GARD:0017731,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019860,GARD:0022513,GARD:0019384,GARD:0022193,Rare developmental defect during embryogenesis +GARD:0019860,GARD:0022536,GARD:0019384,GARD:0005403,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019860,GARD:0022536,GARD:0019384,GARD:0022193,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019860,GARD:0022534,GARD:0019384,GARD:0022193,Rare abdominal surgical disease +GARD:0019861,GARD:0022531,GARD:0020296,GARD:0006002,Rare genetic disease +GARD:0019861,GARD:0022536,GARD:0022062,GARD:0016944,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019861,GARD:0022534,GARD:0019392,GARD:0001475,Rare abdominal surgical disease +GARD:0019861,GARD:0022534,GARD:0019392,GARD:0016944,Rare abdominal surgical disease +GARD:0019861,GARD:0022513,GARD:0019392,GARD:0020013,Rare developmental defect during embryogenesis +GARD:0019861,GARD:0022513,GARD:0019392,GARD:0000705,Rare developmental defect during embryogenesis +GARD:0019861,GARD:0022513,GARD:0019392,GARD:0001475,Rare developmental defect during embryogenesis +GARD:0019861,GARD:0022513,GARD:0019392,GARD:0006002,Rare developmental defect during embryogenesis +GARD:0019861,GARD:0022534,GARD:0019392,GARD:0000454,Rare abdominal surgical disease +GARD:0019861,GARD:0022536,GARD:0022062,GARD:0006002,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019861,GARD:0022513,GARD:0019392,GARD:0000454,Rare developmental defect during embryogenesis +GARD:0019861,GARD:0022536,GARD:0022062,GARD:0000454,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019861,GARD:0022534,GARD:0019392,GARD:0021903,Rare abdominal surgical disease +GARD:0019861,GARD:0022531,GARD:0020296,GARD:0016944,Rare genetic disease +GARD:0019861,GARD:0022534,GARD:0019392,GARD:0012010,Rare abdominal surgical disease +GARD:0019861,GARD:0022536,GARD:0022062,GARD:0020013,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019861,GARD:0022536,GARD:0022062,GARD:0001475,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019861,GARD:0022513,GARD:0019392,GARD:0004203,Rare developmental defect during embryogenesis +GARD:0019861,GARD:0022536,GARD:0022062,GARD:0021903,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019861,GARD:0022536,GARD:0022062,GARD:0004883,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019861,GARD:0022536,GARD:0022062,GARD:0004203,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019861,GARD:0022534,GARD:0019392,GARD:0004203,Rare abdominal surgical disease +GARD:0019861,GARD:0022531,GARD:0020296,GARD:0000705,Rare genetic disease +GARD:0019861,GARD:0022534,GARD:0019392,GARD:0006002,Rare abdominal surgical disease +GARD:0019861,GARD:0022536,GARD:0022062,GARD:0012010,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019861,GARD:0022513,GARD:0019392,GARD:0021903,Rare developmental defect during embryogenesis +GARD:0019861,GARD:0022531,GARD:0020296,GARD:0004203,Rare genetic disease +GARD:0019861,GARD:0022531,GARD:0020296,GARD:0004883,Rare genetic disease +GARD:0019861,GARD:0022513,GARD:0019392,GARD:0004883,Rare developmental defect during embryogenesis +GARD:0019861,GARD:0022536,GARD:0022062,GARD:0000705,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019861,GARD:0022531,GARD:0020296,GARD:0020013,Rare genetic disease +GARD:0019861,GARD:0022534,GARD:0019392,GARD:0000705,Rare abdominal surgical disease +GARD:0019861,GARD:0022534,GARD:0019392,GARD:0004883,Rare abdominal surgical disease +GARD:0019861,GARD:0022513,GARD:0019392,GARD:0016944,Rare developmental defect during embryogenesis +GARD:0019861,GARD:0022513,GARD:0019392,GARD:0012010,Rare developmental defect during embryogenesis +GARD:0019861,GARD:0022534,GARD:0019392,GARD:0020013,Rare abdominal surgical disease +GARD:0019861,GARD:0022531,GARD:0020296,GARD:0000454,Rare genetic disease +GARD:0019862,GARD:0022534,GARD:0019392,GARD:0003436,Rare abdominal surgical disease +GARD:0019862,GARD:0022531,GARD:0020296,GARD:0003436,Rare genetic disease +GARD:0019862,GARD:0022531,GARD:0020296,GARD:0017992,Rare genetic disease +GARD:0019862,GARD:0022513,GARD:0019392,GARD:0020652,Rare developmental defect during embryogenesis +GARD:0019862,GARD:0022534,GARD:0019392,GARD:0004963,Rare abdominal surgical disease +GARD:0019862,GARD:0022513,GARD:0019392,GARD:0022193,Rare developmental defect during embryogenesis +GARD:0019862,GARD:0022531,GARD:0020296,GARD:0006795,Rare genetic disease +GARD:0019862,GARD:0022513,GARD:0019392,GARD:0003436,Rare developmental defect during embryogenesis +GARD:0019862,GARD:0022513,GARD:0019392,GARD:0005237,Rare developmental defect during embryogenesis +GARD:0019862,GARD:0022513,GARD:0019392,GARD:0017992,Rare developmental defect during embryogenesis +GARD:0019862,GARD:0022534,GARD:0019392,GARD:0017356,Rare abdominal surgical disease +GARD:0019862,GARD:0022513,GARD:0019392,GARD:0006795,Rare developmental defect during embryogenesis +GARD:0019862,GARD:0022531,GARD:0020296,GARD:0004963,Rare genetic disease +GARD:0019862,GARD:0022534,GARD:0019392,GARD:0000804,Rare abdominal surgical disease +GARD:0019862,GARD:0022531,GARD:0020296,GARD:0000804,Rare genetic disease +GARD:0019862,GARD:0022513,GARD:0019392,GARD:0000804,Rare developmental defect during embryogenesis +GARD:0019862,GARD:0022531,GARD:0020296,GARD:0005237,Rare genetic disease +GARD:0019862,GARD:0022531,GARD:0020296,GARD:0017356,Rare genetic disease +GARD:0019862,GARD:0022531,GARD:0020296,GARD:0022193,Rare genetic disease +GARD:0019862,GARD:0022513,GARD:0019392,GARD:0004963,Rare developmental defect during embryogenesis +GARD:0019862,GARD:0022534,GARD:0019392,GARD:0022193,Rare abdominal surgical disease +GARD:0019862,GARD:0022513,GARD:0019392,GARD:0017356,Rare developmental defect during embryogenesis +GARD:0019862,GARD:0022534,GARD:0019392,GARD:0005237,Rare abdominal surgical disease +GARD:0019862,GARD:0022534,GARD:0019392,GARD:0017992,Rare abdominal surgical disease +GARD:0019862,GARD:0022534,GARD:0019392,GARD:0020652,Rare abdominal surgical disease +GARD:0019862,GARD:0022534,GARD:0019392,GARD:0006795,Rare abdominal surgical disease +GARD:0019863,GARD:0022534,GARD:0019393,GARD:0004081,Rare abdominal surgical disease +GARD:0019863,GARD:0022534,GARD:0019393,GARD:0008661,Rare abdominal surgical disease +GARD:0019863,GARD:0022513,GARD:0019393,GARD:0008661,Rare developmental defect during embryogenesis +GARD:0019863,GARD:0022513,GARD:0019393,GARD:0004081,Rare developmental defect during embryogenesis +GARD:0019863,GARD:0022513,GARD:0019393,GARD:0016540,Rare developmental defect during embryogenesis +GARD:0019863,GARD:0022513,GARD:0019393,GARD:0001481,Rare developmental defect during embryogenesis +GARD:0019863,GARD:0022513,GARD:0019393,GARD:0002207,Rare developmental defect during embryogenesis +GARD:0019863,GARD:0022534,GARD:0019393,GARD:0001481,Rare abdominal surgical disease +GARD:0019863,GARD:0022534,GARD:0019393,GARD:0002207,Rare abdominal surgical disease +GARD:0019863,GARD:0022534,GARD:0019393,GARD:0016540,Rare abdominal surgical disease +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0003699,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0007649,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0008507,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0021086,Rare abdominal surgical disease +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0008421,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0009850,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0001899,Rare abdominal surgical disease +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0009835,Rare abdominal surgical disease +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0006810,Rare abdominal surgical disease +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0006227,Rare abdominal surgical disease +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0009835,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0003251,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0002397,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0002397,Rare abdominal surgical disease +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0021371,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0018780,Rare abdominal surgical disease +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0007341,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0010109,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0006810,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0018780,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0000713,Rare abdominal surgical disease +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0021086,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0002088,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0010354,Rare abdominal surgical disease +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0022193,Rare abdominal surgical disease +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0001899,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0006321,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0007896,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0008507,Rare abdominal surgical disease +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0021978,Rare abdominal surgical disease +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0004079,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0022193,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0002088,Rare abdominal surgical disease +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0007649,Rare abdominal surgical disease +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0008421,Rare abdominal surgical disease +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0004079,Rare abdominal surgical disease +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0003251,Rare abdominal surgical disease +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0010354,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0006227,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0003699,Rare abdominal surgical disease +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0000713,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0007359,Rare abdominal surgical disease +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0009850,Rare abdominal surgical disease +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0007341,Rare abdominal surgical disease +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0021371,Rare abdominal surgical disease +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0007896,Rare abdominal surgical disease +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0021978,Rare developmental defect during embryogenesis +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0006321,Rare abdominal surgical disease +GARD:0019864,GARD:0022534,GARD:0019393,GARD:0010109,Rare abdominal surgical disease +GARD:0019864,GARD:0022513,GARD:0019393,GARD:0007359,Rare developmental defect during embryogenesis +GARD:0019865,GARD:0022524,GARD:0019394,GARD:0006682,Rare neurologic disease +GARD:0019865,GARD:0022513,GARD:0019394,GARD:0006682,Rare developmental defect during embryogenesis +GARD:0019865,GARD:0022524,GARD:0019394,GARD:0020338,Rare neurologic disease +GARD:0019865,GARD:0022524,GARD:0019394,GARD:0018796,Rare neurologic disease +GARD:0019865,GARD:0022524,GARD:0019394,GARD:0020988,Rare neurologic disease +GARD:0019865,GARD:0022513,GARD:0019394,GARD:0019483,Rare developmental defect during embryogenesis +GARD:0019865,GARD:0022513,GARD:0019394,GARD:0018796,Rare developmental defect during embryogenesis +GARD:0019865,GARD:0022524,GARD:0019394,GARD:0019483,Rare neurologic disease +GARD:0019865,GARD:0022524,GARD:0019394,GARD:0019482,Rare neurologic disease +GARD:0019865,GARD:0022513,GARD:0019394,GARD:0019482,Rare developmental defect during embryogenesis +GARD:0019865,GARD:0022513,GARD:0019394,GARD:0020988,Rare developmental defect during embryogenesis +GARD:0019865,GARD:0022513,GARD:0019394,GARD:0020338,Rare developmental defect during embryogenesis +GARD:0019866,GARD:0022524,GARD:0019394,GARD:0021001,Rare neurologic disease +GARD:0019866,GARD:0022524,GARD:0019394,GARD:0020999,Rare neurologic disease +GARD:0019866,GARD:0022524,GARD:0019394,GARD:0021000,Rare neurologic disease +GARD:0019866,GARD:0022513,GARD:0019394,GARD:0012291,Rare developmental defect during embryogenesis +GARD:0019866,GARD:0022513,GARD:0019394,GARD:0021001,Rare developmental defect during embryogenesis +GARD:0019866,GARD:0022524,GARD:0019394,GARD:0020339,Rare neurologic disease +GARD:0019866,GARD:0022524,GARD:0019394,GARD:0012291,Rare neurologic disease +GARD:0019866,GARD:0022513,GARD:0019394,GARD:0020999,Rare developmental defect during embryogenesis +GARD:0019866,GARD:0022513,GARD:0019394,GARD:0021000,Rare developmental defect during embryogenesis +GARD:0019866,GARD:0022513,GARD:0019394,GARD:0020339,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0010515,Rare surgical thoracic disease +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0009119,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0004593,Rare surgical thoracic disease +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0001025,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0018772,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0021731,Rare surgical thoracic disease +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0004584,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0016591,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0021895,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0004584,Rare surgical thoracic disease +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0001475,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0021895,Rare surgical thoracic disease +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0003188,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0005233,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0009900,Rare surgical thoracic disease +GARD:0019867,GARD:0022531,GARD:0020297,GARD:0003378,Rare genetic disease +GARD:0019867,GARD:0022531,GARD:0020297,GARD:0016591,Rare genetic disease +GARD:0019867,GARD:0022531,GARD:0020297,GARD:0000713,Rare genetic disease +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0002104,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022531,GARD:0020297,GARD:0010515,Rare genetic disease +GARD:0019867,GARD:0022531,GARD:0020297,GARD:0008407,Rare genetic disease +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0009119,Rare surgical thoracic disease +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0005233,Rare surgical thoracic disease +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0016591,Rare surgical thoracic disease +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0009900,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0018772,Rare surgical thoracic disease +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0001475,Rare surgical thoracic disease +GARD:0019867,GARD:0022531,GARD:0020297,GARD:0009634,Rare genetic disease +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0005962,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0003188,Rare surgical thoracic disease +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0002104,Rare surgical thoracic disease +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0001025,Rare surgical thoracic disease +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0010515,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022518,GARD:0022518,GARD:0005962,Rare surgical thoracic disease +GARD:0019867,GARD:0022531,GARD:0020297,GARD:0002104,Rare genetic disease +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0021731,Rare developmental defect during embryogenesis +GARD:0019867,GARD:0022531,GARD:0020297,GARD:0003227,Rare genetic disease +GARD:0019867,GARD:0022531,GARD:0020297,GARD:0000368,Rare genetic disease +GARD:0019867,GARD:0022513,GARD:0019395,GARD:0004593,Rare developmental defect during embryogenesis +GARD:0019868,GARD:0022513,GARD:0019395,GARD:0000713,Rare developmental defect during embryogenesis +GARD:0019868,GARD:0022518,GARD:0022518,GARD:0003378,Rare surgical thoracic disease +GARD:0019868,GARD:0022518,GARD:0022518,GARD:0000368,Rare surgical thoracic disease +GARD:0019868,GARD:0022518,GARD:0022518,GARD:0002427,Rare surgical thoracic disease +GARD:0019868,GARD:0022513,GARD:0019395,GARD:0009634,Rare developmental defect during embryogenesis +GARD:0019868,GARD:0022513,GARD:0019395,GARD:0003227,Rare developmental defect during embryogenesis +GARD:0019868,GARD:0022518,GARD:0022518,GARD:0000741,Rare surgical thoracic disease +GARD:0019868,GARD:0022513,GARD:0019395,GARD:0003378,Rare developmental defect during embryogenesis +GARD:0019868,GARD:0022513,GARD:0019395,GARD:0000193,Rare developmental defect during embryogenesis +GARD:0019868,GARD:0022518,GARD:0022518,GARD:0003227,Rare surgical thoracic disease +GARD:0019868,GARD:0022513,GARD:0019395,GARD:0000741,Rare developmental defect during embryogenesis +GARD:0019868,GARD:0022518,GARD:0022518,GARD:0000713,Rare surgical thoracic disease +GARD:0019868,GARD:0022518,GARD:0022518,GARD:0000193,Rare surgical thoracic disease +GARD:0019868,GARD:0022513,GARD:0019395,GARD:0000368,Rare developmental defect during embryogenesis +GARD:0019868,GARD:0022513,GARD:0019395,GARD:0002427,Rare developmental defect during embryogenesis +GARD:0019868,GARD:0022518,GARD:0022518,GARD:0009634,Rare surgical thoracic disease +GARD:0019869,GARD:0022522,GARD:0022522,GARD:0021172,Rare hematologic disease +GARD:0019869,GARD:0022522,GARD:0022522,GARD:0020668,Rare hematologic disease +GARD:0019869,GARD:0022522,GARD:0022522,GARD:0018883,Rare hematologic disease +GARD:0019869,GARD:0022522,GARD:0022522,GARD:0018714,Rare hematologic disease +GARD:0019869,GARD:0022522,GARD:0022522,GARD:0020234,Rare hematologic disease +GARD:0019869,GARD:0022522,GARD:0022522,GARD:0019454,Rare hematologic disease +GARD:0019870,GARD:0022531,GARD:0021728,GARD:0000786,Rare genetic disease +GARD:0019870,GARD:0022513,GARD:0019871,GARD:0002462,Rare developmental defect during embryogenesis +GARD:0019870,GARD:0022531,GARD:0021728,GARD:0000777,Rare genetic disease +GARD:0019870,GARD:0022513,GARD:0019871,GARD:0021177,Rare developmental defect during embryogenesis +GARD:0019870,GARD:0022531,GARD:0021728,GARD:0002462,Rare genetic disease +GARD:0019870,GARD:0022531,GARD:0021728,GARD:0021177,Rare genetic disease +GARD:0019870,GARD:0022531,GARD:0021728,GARD:0012643,Rare genetic disease +GARD:0019870,GARD:0022513,GARD:0019871,GARD:0021189,Rare developmental defect during embryogenesis +GARD:0019870,GARD:0022531,GARD:0021728,GARD:0021189,Rare genetic disease +GARD:0019870,GARD:0022513,GARD:0019871,GARD:0022002,Rare developmental defect during embryogenesis +GARD:0019870,GARD:0022513,GARD:0019871,GARD:0000777,Rare developmental defect during embryogenesis +GARD:0019870,GARD:0022513,GARD:0019871,GARD:0000786,Rare developmental defect during embryogenesis +GARD:0019870,GARD:0022513,GARD:0019871,GARD:0012643,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0017823,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0021187,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0005199,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0002593,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0019212,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0021186,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0021188,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0001069,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0019870,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0022370,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0021862,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0018895,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0020573,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0002597,Rare developmental defect during embryogenesis +GARD:0019871,GARD:0022513,GARD:0018886,GARD:0017093,Rare developmental defect during embryogenesis +GARD:0019872,GARD:0022513,GARD:0018886,GARD:0021181,Rare developmental defect during embryogenesis +GARD:0019872,GARD:0022513,GARD:0018886,GARD:0021566,Rare developmental defect during embryogenesis +GARD:0019872,GARD:0022531,GARD:0020292,GARD:0008709,Rare genetic disease +GARD:0019872,GARD:0022513,GARD:0018886,GARD:0021183,Rare developmental defect during embryogenesis +GARD:0019872,GARD:0022531,GARD:0020292,GARD:0021566,Rare genetic disease +GARD:0019872,GARD:0022531,GARD:0020292,GARD:0019211,Rare genetic disease +GARD:0019872,GARD:0022513,GARD:0018886,GARD:0008709,Rare developmental defect during embryogenesis +GARD:0019872,GARD:0022513,GARD:0018886,GARD:0019210,Rare developmental defect during embryogenesis +GARD:0019872,GARD:0022531,GARD:0020292,GARD:0021181,Rare genetic disease +GARD:0019872,GARD:0022531,GARD:0020292,GARD:0020015,Rare genetic disease +GARD:0019872,GARD:0022513,GARD:0018886,GARD:0019211,Rare developmental defect during embryogenesis +GARD:0019872,GARD:0022531,GARD:0020292,GARD:0021183,Rare genetic disease +GARD:0019872,GARD:0022513,GARD:0018886,GARD:0021185,Rare developmental defect during embryogenesis +GARD:0019872,GARD:0022513,GARD:0018886,GARD:0021184,Rare developmental defect during embryogenesis +GARD:0019872,GARD:0022513,GARD:0018886,GARD:0020015,Rare developmental defect during embryogenesis +GARD:0019872,GARD:0022531,GARD:0020292,GARD:0021184,Rare genetic disease +GARD:0019872,GARD:0022531,GARD:0020292,GARD:0019210,Rare genetic disease +GARD:0019872,GARD:0022531,GARD:0020292,GARD:0021185,Rare genetic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0021945,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0000753,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0020510,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0017725,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0019846,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0018918,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0012331,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0019842,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0007889,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0021632,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0019844,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0019845,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0019841,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0019848,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0008689,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0020637,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0006960,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0000160,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0017857,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0022339,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0021178,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0007712,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0019843,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0020444,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0012281,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0022268,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0020568,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0021946,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0018900,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0019850,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0001502,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0021640,Rare gastroenterologic disease +GARD:0019873,GARD:0022516,GARD:0022516,GARD:0019849,Rare gastroenterologic disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0001695,Rare genetic disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0006810,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0000026,Rare abdominal surgical disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0000272,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0019336,Rare abdominal surgical disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0018931,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0008421,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0003520,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0001626,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0007341,Rare abdominal surgical disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0008407,Rare abdominal surgical disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0005701,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0004835,Rare genetic disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0005513,Rare genetic disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0000080,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0001695,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0000026,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0006465,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0018024,Rare abdominal surgical disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0008421,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0006810,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0010280,Rare genetic disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0003520,Rare genetic disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0001695,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0001626,Rare genetic disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0003659,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0018024,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0004835,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0007784,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0006069,Rare genetic disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0000118,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0009182,Rare genetic disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0001602,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0001626,Rare abdominal surgical disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0004080,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0010595,Rare abdominal surgical disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0010595,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0001602,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0021862,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0006069,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0004080,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0006465,Rare abdominal surgical disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0000272,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0000192,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0000192,Rare abdominal surgical disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0006321,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0009182,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0017913,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0000213,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0010280,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0007305,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0010295,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0003659,Rare genetic disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0001164,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0018782,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0009182,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0004835,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0009182,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0004834,Rare abdominal surgical disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0002317,Rare abdominal surgical disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0006465,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0003520,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0016571,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0000193,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0002317,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0001695,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0010299,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0010247,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0010247,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0000118,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0006069,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0001626,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0019336,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0018931,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0019336,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0005513,Rare abdominal surgical disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0010295,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0001164,Rare abdominal surgical disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0010247,Rare abdominal surgical disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0007341,Rare genetic disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0019045,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0003659,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0018782,Rare abdominal surgical disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0005443,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0008407,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0006810,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0007305,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0010295,Rare abdominal surgical disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0004080,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0000272,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0010280,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0018931,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0000272,Rare abdominal surgical disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0007305,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0018782,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0000080,Rare genetic disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0007784,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0010247,Rare genetic disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0017913,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0006321,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0021862,Rare genetic disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0004834,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0010295,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0001602,Rare genetic disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0005701,Rare genetic disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0000192,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0007784,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0004834,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0018024,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0019045,Rare genetic disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0018931,Rare genetic disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0005701,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0004080,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0000193,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0005443,Rare abdominal surgical disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0000193,Rare abdominal surgical disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0001164,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0005513,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0001602,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0019045,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0000213,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0007341,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0000118,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0006321,Rare genetic disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0016571,Rare genetic disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0000192,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0000026,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0006810,Rare abdominal surgical disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0019045,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0000213,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0005443,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0001164,Rare genetic disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0004834,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0016571,Rare abdominal surgical disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0019336,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0017913,Rare genetic disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0021862,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0018024,Rare genetic disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0016571,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0004835,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0000118,Rare genetic disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0018782,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0008421,Rare abdominal surgical disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0000213,Rare genetic disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0008407,Rare genetic disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0007341,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0005443,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0006069,Rare abdominal surgical disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0006321,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0007305,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0006465,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0000080,Rare abdominal surgical disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0010595,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0003659,Rare abdominal surgical disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0021862,Rare abdominal surgical disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0002317,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0000026,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0010299,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0005513,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0017913,Rare abdominal surgical disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0010280,Rare abdominal surgical disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0008421,Rare genetic disease +GARD:0019874,GARD:0022534,GARD:0019351,GARD:0005701,Rare abdominal surgical disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0003520,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0000193,Rare genetic disease +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0010299,Rare genetic disease +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0000080,Rare developmental defect during embryogenesis +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0002317,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022531,GARD:0019351,GARD:0007784,Rare genetic disease +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0008407,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022536,GARD:0019351,GARD:0010595,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019874,GARD:0022513,GARD:0019351,GARD:0010299,Rare developmental defect during embryogenesis +GARD:0019875,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0019876,GARD:0022514,GARD:0020208,,Rare gynecologic or obstetric disease +GARD:0019876,GARD:0022535,GARD:0020208,,Rare neoplastic disease +GARD:0019877,GARD:0022520,GARD:0022085,,Rare ophthalmic disorder +GARD:0019878,GARD:0022520,GARD:0022085,,Rare ophthalmic disorder +GARD:0019879,GARD:0022520,GARD:0022085,,Rare ophthalmic disorder +GARD:0019880,GARD:0022520,GARD:0022085,,Rare ophthalmic disorder +GARD:0019881,GARD:0022531,GARD:0012800,,Rare genetic disease +GARD:0019881,GARD:0022513,GARD:0020465,,Rare developmental defect during embryogenesis +GARD:0019881,GARD:0022510,GARD:0012800,,Rare skin disease +GARD:0019881,GARD:0022513,GARD:0012800,,Rare developmental defect during embryogenesis +GARD:0019881,GARD:0022531,GARD:0021922,,Rare genetic disease +GARD:0019881,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0019881,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0019881,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0019881,GARD:0022535,GARD:0012800,,Rare neoplastic disease +GARD:0019881,GARD:0022527,GARD:0020465,,Rare circulatory system disease +GARD:0019881,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0019882,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0019882,GARD:0022536,GARD:0018918,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019882,GARD:0022516,GARD:0018918,,Rare gastroenterologic disease +GARD:0019882,GARD:0022531,GARD:0021546,,Rare genetic disease +GARD:0019882,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0019882,GARD:0022531,GARD:0021810,,Rare genetic disease +GARD:0019883,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0019883,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0019883,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0019884,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0019885,GARD:0022510,GARD:0000132,,Rare skin disease +GARD:0019886,GARD:0022514,GARD:0020197,,Rare gynecologic or obstetric disease +GARD:0019887,GARD:0022524,GARD:0019478,,Rare neurologic disease +GARD:0019887,GARD:0022531,GARD:0019478,,Rare genetic disease +GARD:0019888,GARD:0022520,GARD:0022120,GARD:0020687,Rare ophthalmic disorder +GARD:0019888,GARD:0022531,GARD:0020298,GARD:0007627,Rare genetic disease +GARD:0019888,GARD:0022520,GARD:0022120,GARD:0018021,Rare ophthalmic disorder +GARD:0019888,GARD:0022531,GARD:0020298,GARD:0020687,Rare genetic disease +GARD:0019888,GARD:0022513,GARD:0016857,GARD:0020687,Rare developmental defect during embryogenesis +GARD:0019888,GARD:0022531,GARD:0020298,GARD:0018021,Rare genetic disease +GARD:0019888,GARD:0022520,GARD:0022120,GARD:0007627,Rare ophthalmic disorder +GARD:0019888,GARD:0022531,GARD:0022153,GARD:0018021,Rare genetic disease +GARD:0019888,GARD:0022513,GARD:0016857,GARD:0007627,Rare developmental defect during embryogenesis +GARD:0019888,GARD:0022531,GARD:0022153,GARD:0020687,Rare genetic disease +GARD:0019888,GARD:0022513,GARD:0016857,GARD:0018021,Rare developmental defect during embryogenesis +GARD:0019888,GARD:0022531,GARD:0022153,GARD:0007627,Rare genetic disease +GARD:0019889,GARD:0022528,GARD:0016951,,Rare otorhinolaryngologic disease +GARD:0019889,GARD:0022513,GARD:0016951,,Rare developmental defect during embryogenesis +GARD:0019890,GARD:0022513,GARD:0016951,,Rare developmental defect during embryogenesis +GARD:0019890,GARD:0022528,GARD:0016951,,Rare otorhinolaryngologic disease +GARD:0019891,GARD:0022528,GARD:0020001,,Rare otorhinolaryngologic disease +GARD:0019891,GARD:0022513,GARD:0020001,,Rare developmental defect during embryogenesis +GARD:0019892,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0019893,GARD:0022527,GARD:0020453,,Rare circulatory system disease +GARD:0019893,GARD:0022528,GARD:0020001,,Rare otorhinolaryngologic disease +GARD:0019893,GARD:0022513,GARD:0020453,,Rare developmental defect during embryogenesis +GARD:0019893,GARD:0022513,GARD:0020001,,Rare developmental defect during embryogenesis +GARD:0019893,GARD:0022535,GARD:0020453,,Rare neoplastic disease +GARD:0019894,GARD:0022507,GARD:0019895,GARD:0006841,Rare maxillo-facial surgical disease +GARD:0019894,GARD:0022513,GARD:0019895,GARD:0005021,Rare developmental defect during embryogenesis +GARD:0019894,GARD:0022531,GARD:0021545,GARD:0010782,Rare genetic disease +GARD:0019894,GARD:0022513,GARD:0019895,GARD:0006841,Rare developmental defect during embryogenesis +GARD:0019894,GARD:0022528,GARD:0019895,GARD:0006841,Rare otorhinolaryngologic disease +GARD:0019894,GARD:0022528,GARD:0019895,GARD:0005021,Rare otorhinolaryngologic disease +GARD:0019894,GARD:0022528,GARD:0019895,GARD:0010782,Rare otorhinolaryngologic disease +GARD:0019894,GARD:0022507,GARD:0019895,GARD:0005021,Rare maxillo-facial surgical disease +GARD:0019894,GARD:0022531,GARD:0021545,GARD:0006841,Rare genetic disease +GARD:0019894,GARD:0022507,GARD:0019895,GARD:0010782,Rare maxillo-facial surgical disease +GARD:0019894,GARD:0022531,GARD:0021545,GARD:0005021,Rare genetic disease +GARD:0019894,GARD:0022513,GARD:0019895,GARD:0010782,Rare developmental defect during embryogenesis +GARD:0019895,GARD:0022528,GARD:0019998,GARD:0019897,Rare otorhinolaryngologic disease +GARD:0019895,GARD:0022528,GARD:0019998,GARD:0019896,Rare otorhinolaryngologic disease +GARD:0019895,GARD:0022528,GARD:0019998,GARD:0019898,Rare otorhinolaryngologic disease +GARD:0019895,GARD:0022513,GARD:0019998,GARD:0019898,Rare developmental defect during embryogenesis +GARD:0019895,GARD:0022528,GARD:0019998,GARD:0017583,Rare otorhinolaryngologic disease +GARD:0019895,GARD:0022513,GARD:0019998,GARD:0010089,Rare developmental defect during embryogenesis +GARD:0019895,GARD:0022507,GARD:0019998,GARD:0019899,Rare maxillo-facial surgical disease +GARD:0019895,GARD:0022507,GARD:0019998,GARD:0017583,Rare maxillo-facial surgical disease +GARD:0019895,GARD:0022513,GARD:0019998,GARD:0019897,Rare developmental defect during embryogenesis +GARD:0019895,GARD:0022528,GARD:0019998,GARD:0019899,Rare otorhinolaryngologic disease +GARD:0019895,GARD:0022528,GARD:0019998,GARD:0010089,Rare otorhinolaryngologic disease +GARD:0019895,GARD:0022528,GARD:0019998,GARD:0019894,Rare otorhinolaryngologic disease +GARD:0019895,GARD:0022507,GARD:0019998,GARD:0019896,Rare maxillo-facial surgical disease +GARD:0019895,GARD:0022507,GARD:0019998,GARD:0019898,Rare maxillo-facial surgical disease +GARD:0019895,GARD:0022507,GARD:0019998,GARD:0010089,Rare maxillo-facial surgical disease +GARD:0019895,GARD:0022507,GARD:0019998,GARD:0019897,Rare maxillo-facial surgical disease +GARD:0019895,GARD:0022513,GARD:0019998,GARD:0019896,Rare developmental defect during embryogenesis +GARD:0019895,GARD:0022513,GARD:0019998,GARD:0019894,Rare developmental defect during embryogenesis +GARD:0019895,GARD:0022513,GARD:0019998,GARD:0017583,Rare developmental defect during embryogenesis +GARD:0019895,GARD:0022507,GARD:0019998,GARD:0019894,Rare maxillo-facial surgical disease +GARD:0019895,GARD:0022513,GARD:0019998,GARD:0019899,Rare developmental defect during embryogenesis +GARD:0019896,GARD:0022507,GARD:0019895,GARD:0020779,Rare maxillo-facial surgical disease +GARD:0019896,GARD:0022528,GARD:0019895,GARD:0020779,Rare otorhinolaryngologic disease +GARD:0019896,GARD:0022507,GARD:0019895,GARD:0010299,Rare maxillo-facial surgical disease +GARD:0019896,GARD:0022513,GARD:0019895,GARD:0010299,Rare developmental defect during embryogenesis +GARD:0019896,GARD:0022507,GARD:0019895,GARD:0021816,Rare maxillo-facial surgical disease +GARD:0019896,GARD:0022528,GARD:0019895,GARD:0010299,Rare otorhinolaryngologic disease +GARD:0019896,GARD:0022531,GARD:0021545,GARD:0010299,Rare genetic disease +GARD:0019896,GARD:0022531,GARD:0021545,GARD:0021816,Rare genetic disease +GARD:0019896,GARD:0022513,GARD:0019895,GARD:0021816,Rare developmental defect during embryogenesis +GARD:0019896,GARD:0022528,GARD:0019895,GARD:0021816,Rare otorhinolaryngologic disease +GARD:0019896,GARD:0022531,GARD:0021545,GARD:0020779,Rare genetic disease +GARD:0019896,GARD:0022513,GARD:0019895,GARD:0020779,Rare developmental defect during embryogenesis +GARD:0019897,GARD:0022528,GARD:0019895,GARD:0000498,Rare otorhinolaryngologic disease +GARD:0019897,GARD:0022513,GARD:0019895,GARD:0009124,Rare developmental defect during embryogenesis +GARD:0019897,GARD:0022513,GARD:0019895,GARD:0000498,Rare developmental defect during embryogenesis +GARD:0019897,GARD:0022507,GARD:0019895,GARD:0009124,Rare maxillo-facial surgical disease +GARD:0019897,GARD:0022528,GARD:0019895,GARD:0009124,Rare otorhinolaryngologic disease +GARD:0019897,GARD:0022531,GARD:0021545,GARD:0000498,Rare genetic disease +GARD:0019897,GARD:0022531,GARD:0021545,GARD:0009124,Rare genetic disease +GARD:0019897,GARD:0022507,GARD:0019895,GARD:0000498,Rare maxillo-facial surgical disease +GARD:0019898,GARD:0022531,GARD:0021545,GARD:0010109,Rare genetic disease +GARD:0019898,GARD:0022513,GARD:0019895,GARD:0010608,Rare developmental defect during embryogenesis +GARD:0019898,GARD:0022531,GARD:0021545,GARD:0010608,Rare genetic disease +GARD:0019898,GARD:0022507,GARD:0019895,GARD:0009287,Rare maxillo-facial surgical disease +GARD:0019898,GARD:0022531,GARD:0021545,GARD:0008329,Rare genetic disease +GARD:0019898,GARD:0022528,GARD:0019895,GARD:0010608,Rare otorhinolaryngologic disease +GARD:0019898,GARD:0022531,GARD:0021545,GARD:0005833,Rare genetic disease +GARD:0019898,GARD:0022507,GARD:0019895,GARD:0008329,Rare maxillo-facial surgical disease +GARD:0019898,GARD:0022507,GARD:0019895,GARD:0010608,Rare maxillo-facial surgical disease +GARD:0019898,GARD:0022528,GARD:0019895,GARD:0005833,Rare otorhinolaryngologic disease +GARD:0019898,GARD:0022507,GARD:0019895,GARD:0005833,Rare maxillo-facial surgical disease +GARD:0019898,GARD:0022528,GARD:0019895,GARD:0009287,Rare otorhinolaryngologic disease +GARD:0019898,GARD:0022507,GARD:0019895,GARD:0010109,Rare maxillo-facial surgical disease +GARD:0019898,GARD:0022513,GARD:0019895,GARD:0010109,Rare developmental defect during embryogenesis +GARD:0019898,GARD:0022531,GARD:0021545,GARD:0009287,Rare genetic disease +GARD:0019898,GARD:0022528,GARD:0019895,GARD:0008329,Rare otorhinolaryngologic disease +GARD:0019898,GARD:0022513,GARD:0019895,GARD:0005833,Rare developmental defect during embryogenesis +GARD:0019898,GARD:0022513,GARD:0019895,GARD:0009287,Rare developmental defect during embryogenesis +GARD:0019898,GARD:0022513,GARD:0019895,GARD:0008329,Rare developmental defect during embryogenesis +GARD:0019898,GARD:0022528,GARD:0019895,GARD:0010109,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0005447,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0003575,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0003413,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0016580,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0002294,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0002303,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0018751,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0001413,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0002308,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0006435,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0021991,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0002303,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0006435,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0002304,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0000599,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0000599,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0004236,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0018765,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0018751,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0004236,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0016580,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0002856,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0002304,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0003413,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0005447,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0003575,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0002308,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0018751,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0018765,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0008580,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0000599,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0002303,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0018750,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0002294,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0004315,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0003573,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0008580,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0018750,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0002294,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0002856,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0021991,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0008580,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0006435,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0016580,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0004236,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0004315,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0002308,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0004315,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0018750,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0002856,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0003573,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0005447,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022528,GARD:0019895,GARD:0001413,Rare otorhinolaryngologic disease +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0002304,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0001413,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0003413,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0003573,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022507,GARD:0019895,GARD:0021991,Rare maxillo-facial surgical disease +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0018765,Rare developmental defect during embryogenesis +GARD:0019899,GARD:0022513,GARD:0019895,GARD:0003575,Rare developmental defect during embryogenesis +GARD:0019900,GARD:0022513,GARD:0022513,GARD:0016549,Rare developmental defect during embryogenesis +GARD:0019900,GARD:0022531,GARD:0020290,GARD:0018969,Rare genetic disease +GARD:0019900,GARD:0022531,GARD:0020290,GARD:0006667,Rare genetic disease +GARD:0019900,GARD:0022513,GARD:0022513,GARD:0010758,Rare developmental defect during embryogenesis +GARD:0019900,GARD:0022513,GARD:0022513,GARD:0006734,Rare developmental defect during embryogenesis +GARD:0019900,GARD:0022513,GARD:0022513,GARD:0012782,Rare developmental defect during embryogenesis +GARD:0019900,GARD:0022531,GARD:0020290,GARD:0006400,Rare genetic disease +GARD:0019900,GARD:0022513,GARD:0022513,GARD:0012472,Rare developmental defect during embryogenesis +GARD:0019900,GARD:0022513,GARD:0022513,GARD:0007183,Rare developmental defect during embryogenesis +GARD:0019900,GARD:0022531,GARD:0020290,GARD:0007065,Rare genetic disease +GARD:0019900,GARD:0022531,GARD:0020290,GARD:0007917,Rare genetic disease +GARD:0019900,GARD:0022531,GARD:0020290,GARD:0010758,Rare genetic disease +GARD:0019900,GARD:0022513,GARD:0022513,GARD:0018969,Rare developmental defect during embryogenesis +GARD:0019900,GARD:0022513,GARD:0022513,GARD:0006667,Rare developmental defect during embryogenesis +GARD:0019900,GARD:0022531,GARD:0020290,GARD:0005061,Rare genetic disease +GARD:0019900,GARD:0022513,GARD:0022513,GARD:0005061,Rare developmental defect during embryogenesis +GARD:0019900,GARD:0022513,GARD:0022513,GARD:0006400,Rare developmental defect during embryogenesis +GARD:0019900,GARD:0022531,GARD:0020290,GARD:0018975,Rare genetic disease +GARD:0019900,GARD:0022513,GARD:0022513,GARD:0018975,Rare developmental defect during embryogenesis +GARD:0019900,GARD:0022531,GARD:0020290,GARD:0018977,Rare genetic disease +GARD:0019900,GARD:0022531,GARD:0020290,GARD:0004648,Rare genetic disease +GARD:0019900,GARD:0022531,GARD:0020290,GARD:0006734,Rare genetic disease +GARD:0019900,GARD:0022513,GARD:0022513,GARD:0004648,Rare developmental defect during embryogenesis +GARD:0019900,GARD:0022513,GARD:0022513,GARD:0007065,Rare developmental defect during embryogenesis +GARD:0019900,GARD:0022531,GARD:0020290,GARD:0016549,Rare genetic disease +GARD:0019900,GARD:0022531,GARD:0020290,GARD:0012472,Rare genetic disease +GARD:0019900,GARD:0022531,GARD:0020290,GARD:0012782,Rare genetic disease +GARD:0019900,GARD:0022513,GARD:0022513,GARD:0007917,Rare developmental defect during embryogenesis +GARD:0019901,GARD:0022513,GARD:0022513,GARD:0021571,Rare developmental defect during embryogenesis +GARD:0019901,GARD:0022513,GARD:0022513,GARD:0021567,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0005683,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0017894,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0016594,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0010945,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0010109,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0017116,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0002213,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0004870,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0021898,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0021956,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0021906,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0006810,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0017528,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0022314,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0000288,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0017808,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0007891,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0017709,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0000312,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0017948,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0005667,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0004775,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0022350,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0018015,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0021750,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0000405,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0007633,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0007593,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0000915,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0017903,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0018025,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0017633,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0012814,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0000290,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0008433,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0021751,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0006455,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0006290,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0000080,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0019561,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0002123,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0017814,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0022371,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0005124,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0013638,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0017800,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0018026,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0017707,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0012845,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0000095,Rare developmental defect during embryogenesis +GARD:0019902,GARD:0022513,GARD:0022513,GARD:0000882,Rare developmental defect during embryogenesis +GARD:0019903,GARD:0022513,GARD:0022513,GARD:0019213,Rare developmental defect during embryogenesis +GARD:0019903,GARD:0022513,GARD:0022513,GARD:0020650,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0017736,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0016630,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0003054,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0006807,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0006227,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0002137,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0002952,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0006227,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0007467,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0004494,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0005723,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0000753,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0006317,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0007910,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0005525,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0000330,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0006626,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0006807,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0000756,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0005525,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0005862,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0002152,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0017130,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0000201,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0002952,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0005630,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0009643,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0001550,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0000838,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0007885,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0002150,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0002960,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0006122,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0007467,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0000756,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0003268,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0017156,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0012550,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0000330,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0017130,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0003659,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0001100,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0017579,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0007910,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0003054,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0006039,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0010048,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0005723,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0010753,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0001516,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0016630,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0000838,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0003659,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0001550,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0006322,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0005862,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0017736,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0002137,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0006317,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0017579,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0001100,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0004494,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0006322,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0002960,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0001516,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0012550,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0017528,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0006626,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0006122,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0006039,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0000201,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0010048,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0000753,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0009643,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0017156,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0002150,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0003268,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0017528,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0007885,Rare genetic disease +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0005630,Rare genetic disease +GARD:0019904,GARD:0022513,GARD:0022513,GARD:0010753,Rare developmental defect during embryogenesis +GARD:0019904,GARD:0022531,GARD:0020290,GARD:0002152,Rare genetic disease +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0017069,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0003181,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0016535,Rare genetic disease +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0017362,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0017070,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0020594,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0017963,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0021368,Rare genetic disease +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0017069,Rare genetic disease +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0009643,Rare genetic disease +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0017308,Rare genetic disease +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0001818,Rare genetic disease +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0017963,Rare genetic disease +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0009643,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0006860,Rare genetic disease +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0003054,Rare genetic disease +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0017156,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0006227,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0009463,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0001818,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0006322,Rare genetic disease +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0017308,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0021368,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0006322,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0016697,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0006860,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0003054,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0003181,Rare genetic disease +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0017156,Rare genetic disease +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0017362,Rare genetic disease +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0020594,Rare genetic disease +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0017070,Rare genetic disease +GARD:0019905,GARD:0022513,GARD:0022513,GARD:0016535,Rare developmental defect during embryogenesis +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0016697,Rare genetic disease +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0006227,Rare genetic disease +GARD:0019905,GARD:0022531,GARD:0020290,GARD:0009463,Rare genetic disease +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0011008,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0017130,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0017281,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0006885,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0000330,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0006122,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0016646,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0007910,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0017736,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0010989,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0004494,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0007885,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0013388,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0004392,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0011910,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0004276,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0010509,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0011893,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0005630,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0007467,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0003126,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0007633,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0000415,Rare developmental defect during embryogenesis +GARD:0019906,GARD:0022513,GARD:0022513,GARD:0017722,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0020625,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0009124,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0003653,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0004169,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0009798,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0010299,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0000897,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0002033,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0018859,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0000499,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0010056,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0008549,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0004260,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0005802,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0010692,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0000494,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0000497,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0001261,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0000496,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0000498,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0008410,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0002390,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0017547,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0005569,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0010147,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0000068,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0001002,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0004963,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0012074,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0007784,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0012640,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0003169,Rare developmental defect during embryogenesis +GARD:0019907,GARD:0022513,GARD:0022513,GARD:0005121,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0022068,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0009280,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0003212,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0001167,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0003430,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0003060,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0004079,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0005091,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0005482,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0003596,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0005642,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0001167,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0003078,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0005175,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0005091,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0006683,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0001394,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0003430,Rare genetic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0000028,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0000162,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0004223,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0005175,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0003552,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0006274,Rare genetic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0001515,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0002725,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0008623,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0006860,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0003596,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0000358,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0002633,Rare genetic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0003078,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0006683,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0016606,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0016606,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0005225,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0002460,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0004046,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0002009,Rare genetic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0002633,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0000375,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0002381,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0004079,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0001391,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0016966,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0003060,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0008432,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0000435,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0002728,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0001167,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0003438,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0001274,Rare otorhinolaryngologic disease 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embryogenesis +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0004637,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0003552,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0005175,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0008432,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0004637,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0018755,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0000177,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0000358,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0001391,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0005545,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0005175,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0004637,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0008432,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0000375,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0002725,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0003438,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0016802,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0004729,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0009280,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0012640,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0018933,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0000414,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0008428,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0017862,Rare genetic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0007387,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0000061,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0001515,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0016802,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0018933,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0005091,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0016606,Rare genetic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0003439,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0008428,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0001515,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0000375,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0004729,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0003078,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0000358,Rare genetic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0003889,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0000375,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0002728,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0000028,Rare genetic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0003596,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0000177,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0003889,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0022068,Rare genetic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0009849,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0000061,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0001167,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0005482,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0000414,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0000061,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0003889,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0002381,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0001392,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0000003,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0002460,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0001274,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0003436,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0009849,Rare genetic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0002381,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0004729,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0001440,Rare genetic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0003430,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0003212,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0000414,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0005021,Rare genetic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0000177,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0010056,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0006683,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0018933,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0002410,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0001515,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0005469,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0002728,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0003430,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0007387,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0002381,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0001391,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0006274,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0000435,Rare genetic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0008432,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0004637,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0002725,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0018755,Rare genetic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0001369,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0003212,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0008623,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0002009,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0004718,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0016993,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0002633,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0022068,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0008428,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0018755,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0001392,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0005472,Rare genetic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0005021,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0017862,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0003436,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0005469,Rare genetic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0010056,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0001440,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0005469,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0016993,Rare genetic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0007387,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0002553,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0001369,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0001274,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0001392,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0005642,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0003060,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0004718,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0005545,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0004223,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0004046,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0002460,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0002725,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0005225,Rare genetic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0005642,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0004046,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0001274,Rare genetic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0000003,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0005021,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0004079,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0006683,Rare genetic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0002009,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0000028,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0004718,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0003438,Rare genetic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0008623,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0001369,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0002071,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0016993,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0004079,Rare genetic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0009280,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0005482,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0000360,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0000897,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0016966,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0003552,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0003439,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0006274,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0012640,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0000360,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0005545,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0003438,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0003889,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0016966,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0009849,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0003078,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0016966,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0018755,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0002553,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0000028,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0000435,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0001440,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0017862,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0005225,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0005469,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0005472,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0002633,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0003552,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0000358,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0004718,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0001394,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0005225,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0003439,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0000162,Rare genetic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0000897,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0001391,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0002410,Rare genetic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0009849,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0003436,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0000360,Rare genetic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0016993,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0002728,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0005642,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0008428,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0005472,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0002553,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0004223,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0016802,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0003596,Rare genetic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0000360,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0001394,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0007387,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0003439,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0001440,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0003436,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0010056,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0000435,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0000897,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0008623,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0000003,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0000162,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0004223,Rare genetic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0004046,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0000061,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0022068,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0000897,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0002553,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0003212,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0005545,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0005482,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0010056,Rare genetic disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0004729,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0002071,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0006860,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0016606,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0002410,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0012640,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0003060,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0000177,Rare genetic disease +GARD:0019908,GARD:0022531,GARD:0019998,GARD:0002071,Rare genetic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0005091,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0006274,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0002071,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0000414,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022513,GARD:0019998,GARD:0002410,Rare developmental defect during embryogenesis +GARD:0019908,GARD:0022528,GARD:0019998,GARD:0016802,Rare otorhinolaryngologic disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0006860,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0002009,Rare maxillo-facial surgical disease +GARD:0019908,GARD:0022507,GARD:0019998,GARD:0000003,Rare maxillo-facial surgical disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0001463,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0005478,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0003128,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0002055,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0010526,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0005121,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0000082,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0005027,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0018019,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0020209,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0000044,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0001463,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0006848,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0000384,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0004628,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0000238,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0018943,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0005478,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0000212,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0000646,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0000044,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0017384,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0016679,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0017309,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0000384,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0000385,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0010526,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0001698,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0004034,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0007799,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0002055,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0000469,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0018943,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0000265,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0006118,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0017376,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0009679,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0004051,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0016583,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0000277,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0000400,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0004053,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0005802,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0000105,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0004628,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0001687,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0004369,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0005267,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0010528,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0003100,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0004168,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0000212,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0000385,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0016614,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0001698,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0003128,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0000277,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0005267,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0005802,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0001393,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0001816,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0006848,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0002324,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0016910,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0000265,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0005587,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0017997,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0017384,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0017422,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0016583,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0017422,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0016649,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0017997,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0007523,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0004369,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0002324,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0017309,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0022326,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0000238,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0022358,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0007161,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0002071,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0005015,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0002071,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0007239,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0010528,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0003056,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0004054,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0003100,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0010163,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0000646,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0020209,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0016679,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0005004,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0005015,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0002381,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0010163,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0004034,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0000400,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0000082,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0016910,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0000105,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0018019,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0001816,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0009679,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0016614,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0001393,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0004054,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0001687,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0000469,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0005121,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0007523,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0016649,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0007799,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0005587,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0007161,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0004051,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0022358,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0006118,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0004053,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0017376,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0003056,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0007239,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0022326,Rare developmental defect during embryogenesis +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0005027,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0002381,Rare odontologic disease +GARD:0019909,GARD:0022526,GARD:0022526,GARD:0004168,Rare odontologic disease +GARD:0019909,GARD:0022513,GARD:0022513,GARD:0005004,Rare developmental defect during embryogenesis +GARD:0019910,GARD:0022513,GARD:0006209,GARD:0022474,Rare developmental defect during embryogenesis +GARD:0019910,GARD:0022511,GARD:0006209,GARD:0022474,Rare bone disease +GARD:0019910,GARD:0022531,GARD:0006209,GARD:0022469,Rare genetic disease +GARD:0019910,GARD:0022511,GARD:0006209,GARD:0022469,Rare bone disease +GARD:0019910,GARD:0022531,GARD:0006209,GARD:0022474,Rare genetic disease +GARD:0019910,GARD:0022513,GARD:0006209,GARD:0022469,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0000332,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0001810,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0001578,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0000243,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0004611,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0006003,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0004142,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0006003,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0002454,Rare genetic disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0008735,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0005447,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0006003,Rare genetic disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0018762,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0002765,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0017584,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0005538,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0018762,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0020113,Rare genetic disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0020147,Rare bone disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0007891,Rare genetic disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0001583,Rare developmental defect during embryogenesis 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developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0017584,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0016811,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0020147,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0005538,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0001602,Rare genetic disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0000127,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0017192,Rare genetic disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0009506,Rare bone disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0004861,Rare genetic disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0006124,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0004142,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0006124,Rare developmental defect during embryogenesis 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embryogenesis +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0017348,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0005833,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0010140,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0000243,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0017348,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0000082,Rare genetic disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0002454,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0006796,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0020127,Rare genetic disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0006290,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0002765,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0005721,Rare genetic disease 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+GARD:0019911,GARD:0022511,GARD:0006209,GARD:0003300,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0017309,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0008735,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0016811,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0005721,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0010140,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0000359,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0000085,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0018001,Rare genetic disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0008586,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0002549,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0005978,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0016653,Rare genetic disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0010727,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0000359,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0010965,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0000332,Rare genetic disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0020147,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0007380,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0005447,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0001810,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0005584,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0006796,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0009506,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0002096,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0016810,Rare bone disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0008586,Rare genetic disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0001578,Rare bone disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0017309,Rare genetic disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0005826,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0002765,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0020127,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0005826,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0001602,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0020662,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0007598,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0005978,Rare bone disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0007065,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0010727,Rare genetic disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0005833,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0005538,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0004611,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0005721,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0016653,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0020662,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0006124,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0020662,Rare genetic disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0001118,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0005584,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0007097,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0001583,Rare bone disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0005447,Rare genetic disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0004861,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0006290,Rare bone disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0018762,Rare genetic disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0007891,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0006206,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0003300,Rare genetic disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0000359,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0003300,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0000853,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0002549,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0000247,Rare genetic disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0007065,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0002756,Rare genetic disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0001602,Rare bone disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0005584,Rare genetic disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0007097,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0000332,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0009506,Rare genetic disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0007891,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0000127,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0001605,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0006796,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0004611,Rare genetic disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0017309,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0000085,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0010727,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0001118,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0000247,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0008586,Rare bone disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0005978,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0001118,Rare genetic disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0001601,Rare genetic disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0002756,Rare bone disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0010965,Rare bone disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0007380,Rare genetic disease +GARD:0019911,GARD:0022511,GARD:0006209,GARD:0007065,Rare bone disease +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0001605,Rare genetic disease +GARD:0019911,GARD:0022513,GARD:0006209,GARD:0006206,Rare developmental defect during embryogenesis +GARD:0019911,GARD:0022531,GARD:0006209,GARD:0000853,Rare genetic disease +GARD:0019912,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0019912,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0019913,GARD:0022524,GARD:0019815,GARD:0022375,Rare neurologic disease +GARD:0019913,GARD:0022524,GARD:0019815,GARD:0019914,Rare neurologic disease +GARD:0019914,GARD:0022524,GARD:0019913,,Rare neurologic disease +GARD:0019915,GARD:0022524,GARD:0019437,,Rare neurologic disease +GARD:0019916,GARD:0022524,GARD:0019437,,Rare neurologic disease +GARD:0019917,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0019917,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0019918,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0019918,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0019919,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0019919,GARD:0022531,GARD:0019923,,Rare genetic disease +GARD:0019919,GARD:0022524,GARD:0019923,,Rare neurologic disease +GARD:0019919,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0019919,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0019920,GARD:0022524,GARD:0019929,,Rare neurologic disease +GARD:0019920,GARD:0022531,GARD:0019929,,Rare genetic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0007193,Rare genetic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0007166,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0020633,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0006140,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0000302,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0017343,Rare genetic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0013219,Rare genetic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0022360,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0008468,Rare neoplastic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0017217,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0008468,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0021420,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0020259,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0013219,Rare neoplastic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0020259,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0022300,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0022461,Rare neoplastic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0017413,Rare neoplastic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0017710,Rare neoplastic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0007193,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0020633,Rare genetic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0005940,Rare genetic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0017710,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0007866,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0017278,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0007166,Rare neoplastic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0006958,Rare neoplastic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0017278,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0017413,Rare genetic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0003102,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0006140,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0017217,Rare genetic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0006958,Rare genetic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0017544,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0009281,Rare neoplastic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0007251,Rare neoplastic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0003102,Rare neoplastic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0021793,Rare neoplastic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0006357,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0006357,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0017776,Rare neoplastic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0017343,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0004768,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0004768,Rare neoplastic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0022360,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0007251,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0017722,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0021793,Rare genetic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0017776,Rare genetic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0010905,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0022300,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0017722,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0005940,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0021420,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0017544,Rare neoplastic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0007866,Rare genetic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0022461,Rare genetic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0009281,Rare genetic disease +GARD:0019921,GARD:0022531,GARD:0022531,GARD:0000302,Rare genetic disease +GARD:0019921,GARD:0022535,GARD:0022535,GARD:0010905,Rare neoplastic disease +GARD:0019922,GARD:0022521,GARD:0020224,,Rare endocrine disease +GARD:0019923,GARD:0022524,GARD:0021952,GARD:0016731,Rare neurologic disease +GARD:0019923,GARD:0022531,GARD:0021952,GARD:0016962,Rare genetic disease +GARD:0019923,GARD:0022524,GARD:0021952,GARD:0019919,Rare neurologic disease +GARD:0019923,GARD:0022531,GARD:0021952,GARD:0009204,Rare genetic disease +GARD:0019923,GARD:0022531,GARD:0021952,GARD:0017859,Rare genetic disease +GARD:0019923,GARD:0022531,GARD:0021952,GARD:0011010,Rare genetic disease +GARD:0019923,GARD:0022524,GARD:0021952,GARD:0004741,Rare neurologic disease +GARD:0019923,GARD:0022531,GARD:0021952,GARD:0016731,Rare genetic disease +GARD:0019923,GARD:0022524,GARD:0021952,GARD:0011010,Rare neurologic disease +GARD:0019923,GARD:0022531,GARD:0021952,GARD:0004741,Rare genetic disease +GARD:0019923,GARD:0022531,GARD:0021952,GARD:0005221,Rare genetic disease +GARD:0019923,GARD:0022531,GARD:0021952,GARD:0019919,Rare genetic disease +GARD:0019923,GARD:0022524,GARD:0021952,GARD:0009204,Rare neurologic disease +GARD:0019923,GARD:0022524,GARD:0021952,GARD:0012433,Rare neurologic disease +GARD:0019923,GARD:0022531,GARD:0021952,GARD:0012433,Rare genetic disease +GARD:0019923,GARD:0022524,GARD:0021952,GARD:0017851,Rare neurologic disease +GARD:0019923,GARD:0022531,GARD:0021952,GARD:0017851,Rare genetic disease +GARD:0019923,GARD:0022524,GARD:0021952,GARD:0005221,Rare neurologic disease +GARD:0019923,GARD:0022524,GARD:0021952,GARD:0016962,Rare neurologic disease +GARD:0019923,GARD:0022524,GARD:0021952,GARD:0017859,Rare neurologic disease +GARD:0019924,GARD:0022531,GARD:0021951,GARD:0005243,Rare genetic disease +GARD:0019924,GARD:0022524,GARD:0021951,GARD:0010131,Rare neurologic disease +GARD:0019924,GARD:0022531,GARD:0021951,GARD:0012431,Rare genetic disease +GARD:0019924,GARD:0022531,GARD:0021951,GARD:0010131,Rare genetic disease +GARD:0019924,GARD:0022524,GARD:0021951,GARD:0009208,Rare neurologic disease +GARD:0019924,GARD:0022531,GARD:0021951,GARD:0016787,Rare genetic disease +GARD:0019924,GARD:0022524,GARD:0021951,GARD:0012431,Rare neurologic disease +GARD:0019924,GARD:0022524,GARD:0021951,GARD:0005243,Rare neurologic disease +GARD:0019924,GARD:0022524,GARD:0021951,GARD:0017977,Rare neurologic disease +GARD:0019924,GARD:0022524,GARD:0021951,GARD:0016787,Rare neurologic disease +GARD:0019924,GARD:0022531,GARD:0021951,GARD:0009208,Rare genetic disease +GARD:0019924,GARD:0022531,GARD:0021951,GARD:0017977,Rare genetic disease +GARD:0019925,GARD:0022524,GARD:0021952,GARD:0016645,Rare neurologic disease +GARD:0019925,GARD:0022531,GARD:0021952,GARD:0012440,Rare genetic disease +GARD:0019925,GARD:0022524,GARD:0021952,GARD:0017787,Rare neurologic disease +GARD:0019925,GARD:0022531,GARD:0021952,GARD:0009204,Rare genetic disease +GARD:0019925,GARD:0022531,GARD:0021952,GARD:0016786,Rare genetic disease +GARD:0019925,GARD:0022524,GARD:0021952,GARD:0012440,Rare neurologic disease +GARD:0019925,GARD:0022531,GARD:0021952,GARD:0016645,Rare genetic disease +GARD:0019925,GARD:0022524,GARD:0021952,GARD:0017791,Rare neurologic disease +GARD:0019925,GARD:0022524,GARD:0021952,GARD:0016786,Rare neurologic disease +GARD:0019925,GARD:0022531,GARD:0021952,GARD:0017787,Rare genetic disease +GARD:0019925,GARD:0022524,GARD:0021952,GARD:0009204,Rare neurologic disease +GARD:0019925,GARD:0022531,GARD:0021952,GARD:0017791,Rare genetic disease +GARD:0019926,GARD:0022524,GARD:0012683,GARD:0016954,Rare neurologic disease +GARD:0019926,GARD:0022524,GARD:0012683,GARD:0016955,Rare neurologic disease +GARD:0019926,GARD:0022531,GARD:0012683,GARD:0016955,Rare genetic disease +GARD:0019926,GARD:0022524,GARD:0012683,GARD:0016953,Rare neurologic disease +GARD:0019926,GARD:0022524,GARD:0012683,GARD:0004219,Rare neurologic disease +GARD:0019926,GARD:0022531,GARD:0012683,GARD:0016954,Rare genetic disease +GARD:0019926,GARD:0022531,GARD:0012683,GARD:0021949,Rare genetic disease +GARD:0019926,GARD:0022531,GARD:0012683,GARD:0004219,Rare genetic disease +GARD:0019926,GARD:0022524,GARD:0012683,GARD:0016960,Rare neurologic disease +GARD:0019926,GARD:0022524,GARD:0012683,GARD:0021949,Rare neurologic disease +GARD:0019926,GARD:0022531,GARD:0012683,GARD:0017639,Rare genetic disease +GARD:0019926,GARD:0022531,GARD:0012683,GARD:0001474,Rare genetic disease +GARD:0019926,GARD:0022531,GARD:0012683,GARD:0016960,Rare genetic disease +GARD:0019926,GARD:0022524,GARD:0012683,GARD:0001474,Rare neurologic disease +GARD:0019926,GARD:0022524,GARD:0012683,GARD:0017639,Rare neurologic disease +GARD:0019926,GARD:0022531,GARD:0012683,GARD:0016953,Rare genetic disease +GARD:0019927,GARD:0022524,GARD:0012683,GARD:0010133,Rare neurologic disease +GARD:0019927,GARD:0022524,GARD:0012683,GARD:0017914,Rare neurologic disease +GARD:0019927,GARD:0022524,GARD:0012683,GARD:0017421,Rare neurologic disease +GARD:0019927,GARD:0022531,GARD:0012683,GARD:0017421,Rare genetic disease +GARD:0019927,GARD:0022524,GARD:0012683,GARD:0016956,Rare neurologic disease +GARD:0019927,GARD:0022531,GARD:0012683,GARD:0008592,Rare genetic disease +GARD:0019927,GARD:0022531,GARD:0012683,GARD:0010133,Rare genetic disease +GARD:0019927,GARD:0022524,GARD:0012683,GARD:0008592,Rare neurologic disease +GARD:0019927,GARD:0022531,GARD:0012683,GARD:0017914,Rare genetic disease +GARD:0019927,GARD:0022531,GARD:0012683,GARD:0016956,Rare genetic disease +GARD:0019928,GARD:0022531,GARD:0012688,GARD:0006377,Rare genetic disease +GARD:0019928,GARD:0022524,GARD:0012688,GARD:0016958,Rare neurologic disease +GARD:0019928,GARD:0022531,GARD:0012688,GARD:0021632,Rare genetic disease +GARD:0019928,GARD:0022531,GARD:0012688,GARD:0016958,Rare genetic disease +GARD:0019928,GARD:0022524,GARD:0012688,GARD:0011927,Rare neurologic disease +GARD:0019928,GARD:0022531,GARD:0012688,GARD:0006635,Rare genetic disease +GARD:0019928,GARD:0022524,GARD:0012688,GARD:0021632,Rare neurologic disease +GARD:0019928,GARD:0022531,GARD:0012688,GARD:0012732,Rare genetic disease +GARD:0019928,GARD:0022531,GARD:0012688,GARD:0011927,Rare genetic disease +GARD:0019928,GARD:0022524,GARD:0012688,GARD:0012732,Rare neurologic disease +GARD:0019928,GARD:0022524,GARD:0012688,GARD:0006635,Rare neurologic disease +GARD:0019928,GARD:0022524,GARD:0012688,GARD:0006377,Rare neurologic disease +GARD:0019929,GARD:0022524,GARD:0012688,GARD:0013568,Rare neurologic disease +GARD:0019929,GARD:0022524,GARD:0012688,GARD:0017866,Rare neurologic disease +GARD:0019929,GARD:0022531,GARD:0012688,GARD:0012328,Rare genetic disease +GARD:0019929,GARD:0022524,GARD:0012688,GARD:0012328,Rare neurologic disease +GARD:0019929,GARD:0022524,GARD:0012688,GARD:0003976,Rare neurologic disease +GARD:0019929,GARD:0022531,GARD:0012688,GARD:0019920,Rare genetic disease +GARD:0019929,GARD:0022524,GARD:0012688,GARD:0019920,Rare neurologic disease +GARD:0019929,GARD:0022531,GARD:0012688,GARD:0017866,Rare genetic disease +GARD:0019929,GARD:0022524,GARD:0012688,GARD:0007581,Rare neurologic disease +GARD:0019929,GARD:0022531,GARD:0012688,GARD:0021890,Rare genetic disease +GARD:0019929,GARD:0022531,GARD:0012688,GARD:0021708,Rare genetic disease +GARD:0019929,GARD:0022531,GARD:0012688,GARD:0012267,Rare genetic disease +GARD:0019929,GARD:0022531,GARD:0012688,GARD:0012987,Rare genetic disease +GARD:0019929,GARD:0022531,GARD:0012688,GARD:0003006,Rare genetic disease +GARD:0019929,GARD:0022524,GARD:0012688,GARD:0021708,Rare neurologic disease +GARD:0019929,GARD:0022524,GARD:0012688,GARD:0003006,Rare neurologic disease +GARD:0019929,GARD:0022531,GARD:0012688,GARD:0013568,Rare genetic disease +GARD:0019929,GARD:0022524,GARD:0012688,GARD:0016959,Rare neurologic disease +GARD:0019929,GARD:0022531,GARD:0012688,GARD:0016959,Rare genetic disease +GARD:0019929,GARD:0022531,GARD:0012688,GARD:0003976,Rare genetic disease +GARD:0019929,GARD:0022531,GARD:0012688,GARD:0007581,Rare genetic disease +GARD:0019929,GARD:0022524,GARD:0012688,GARD:0021890,Rare neurologic disease +GARD:0019929,GARD:0022524,GARD:0012688,GARD:0012267,Rare neurologic disease +GARD:0019929,GARD:0022524,GARD:0012688,GARD:0012987,Rare neurologic disease +GARD:0019930,GARD:0022520,GARD:0022135,GARD:0022116,Rare ophthalmic disorder +GARD:0019930,GARD:0022520,GARD:0022135,GARD:0022115,Rare ophthalmic disorder +GARD:0019930,GARD:0022520,GARD:0022135,GARD:0022122,Rare ophthalmic disorder +GARD:0019930,GARD:0022520,GARD:0022135,GARD:0022119,Rare ophthalmic disorder +GARD:0019931,GARD:0022524,GARD:0019412,GARD:0010168,Rare neurologic disease +GARD:0019931,GARD:0022531,GARD:0019412,GARD:0010168,Rare genetic disease +GARD:0019931,GARD:0022531,GARD:0019412,GARD:0006802,Rare genetic disease +GARD:0019931,GARD:0022531,GARD:0019412,GARD:0017637,Rare genetic disease +GARD:0019931,GARD:0022520,GARD:0022115,GARD:0009455,Rare ophthalmic disorder +GARD:0019931,GARD:0022531,GARD:0019412,GARD:0009455,Rare genetic disease +GARD:0019931,GARD:0022520,GARD:0022115,GARD:0017637,Rare ophthalmic disorder +GARD:0019931,GARD:0022524,GARD:0019412,GARD:0010169,Rare neurologic disease +GARD:0019931,GARD:0022520,GARD:0022115,GARD:0001410,Rare ophthalmic disorder +GARD:0019931,GARD:0022531,GARD:0022150,GARD:0004412,Rare genetic disease +GARD:0019931,GARD:0022531,GARD:0022150,GARD:0001410,Rare genetic disease +GARD:0019931,GARD:0022520,GARD:0022115,GARD:0010168,Rare ophthalmic disorder +GARD:0019931,GARD:0022531,GARD:0019412,GARD:0010169,Rare genetic disease +GARD:0019931,GARD:0022524,GARD:0019412,GARD:0006802,Rare neurologic disease +GARD:0019931,GARD:0022524,GARD:0019412,GARD:0004412,Rare neurologic disease +GARD:0019931,GARD:0022531,GARD:0022150,GARD:0006802,Rare genetic disease +GARD:0019931,GARD:0022531,GARD:0019412,GARD:0001410,Rare genetic disease +GARD:0019931,GARD:0022531,GARD:0022150,GARD:0010168,Rare genetic disease +GARD:0019931,GARD:0022520,GARD:0022115,GARD:0004412,Rare ophthalmic disorder +GARD:0019931,GARD:0022524,GARD:0019412,GARD:0017637,Rare neurologic disease +GARD:0019931,GARD:0022520,GARD:0022115,GARD:0006802,Rare ophthalmic disorder +GARD:0019931,GARD:0022531,GARD:0019412,GARD:0004412,Rare genetic disease +GARD:0019931,GARD:0022531,GARD:0022150,GARD:0009455,Rare genetic disease +GARD:0019931,GARD:0022524,GARD:0019412,GARD:0001410,Rare neurologic disease +GARD:0019931,GARD:0022524,GARD:0019412,GARD:0009455,Rare neurologic disease +GARD:0019931,GARD:0022531,GARD:0022150,GARD:0017637,Rare genetic disease +GARD:0019931,GARD:0022520,GARD:0022115,GARD:0010169,Rare ophthalmic disorder +GARD:0019931,GARD:0022531,GARD:0022150,GARD:0010169,Rare genetic disease +GARD:0019932,GARD:0022510,GARD:0019010,,Rare skin disease +GARD:0019932,GARD:0022531,GARD:0021970,,Rare genetic disease +GARD:0019933,GARD:0022532,GARD:0022532,,Rare urogenital disease +GARD:0019934,GARD:0022513,GARD:0019973,,Rare developmental defect during embryogenesis +GARD:0019934,GARD:0022528,GARD:0019973,,Rare otorhinolaryngologic disease +GARD:0019935,GARD:0022528,GARD:0019973,,Rare otorhinolaryngologic disease +GARD:0019935,GARD:0022513,GARD:0019973,,Rare developmental defect during embryogenesis +GARD:0019936,GARD:0022513,GARD:0019973,,Rare developmental defect during embryogenesis +GARD:0019936,GARD:0022528,GARD:0019973,,Rare otorhinolaryngologic disease +GARD:0019937,GARD:0022528,GARD:0019973,,Rare otorhinolaryngologic disease +GARD:0019937,GARD:0022513,GARD:0019973,,Rare developmental defect during embryogenesis +GARD:0019938,GARD:0022513,GARD:0019973,,Rare developmental defect during embryogenesis +GARD:0019938,GARD:0022528,GARD:0019973,,Rare otorhinolaryngologic disease +GARD:0019939,GARD:0022528,GARD:0019973,,Rare otorhinolaryngologic disease +GARD:0019939,GARD:0022513,GARD:0019973,,Rare developmental defect during embryogenesis +GARD:0019940,GARD:0022528,GARD:0019973,,Rare otorhinolaryngologic disease +GARD:0019940,GARD:0022513,GARD:0019973,,Rare developmental defect during embryogenesis +GARD:0019941,GARD:0022528,GARD:0019973,,Rare otorhinolaryngologic disease +GARD:0019941,GARD:0022513,GARD:0019973,,Rare developmental defect during embryogenesis +GARD:0019942,GARD:0022528,GARD:0019973,,Rare otorhinolaryngologic disease +GARD:0019942,GARD:0022513,GARD:0019973,,Rare developmental defect during embryogenesis +GARD:0019943,GARD:0022528,GARD:0019405,,Rare otorhinolaryngologic disease +GARD:0019943,GARD:0022535,GARD:0019405,,Rare neoplastic disease +GARD:0019943,GARD:0022535,GARD:0018711,,Rare neoplastic disease +GARD:0019943,GARD:0022536,GARD:0018711,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019944,GARD:0022520,GARD:0019511,,Rare ophthalmic disorder +GARD:0019944,GARD:0022513,GARD:0019511,,Rare developmental defect during embryogenesis +GARD:0019944,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0019944,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0019945,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0019945,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0019946,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0019946,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0019947,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0019947,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0019948,GARD:0022535,GARD:0018711,,Rare neoplastic disease +GARD:0019948,GARD:0022528,GARD:0019405,,Rare otorhinolaryngologic disease +GARD:0019948,GARD:0022535,GARD:0019405,,Rare neoplastic disease +GARD:0019948,GARD:0022536,GARD:0018711,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0019949,GARD:0022535,GARD:0019405,,Rare neoplastic disease +GARD:0019949,GARD:0022528,GARD:0019405,,Rare otorhinolaryngologic disease +GARD:0019949,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0019949,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0019950,GARD:0022524,GARD:0002430,,Rare neurologic disease +GARD:0019950,GARD:0022535,GARD:0019405,,Rare neoplastic disease +GARD:0019950,GARD:0022535,GARD:0002430,,Rare neoplastic disease +GARD:0019950,GARD:0022528,GARD:0019405,,Rare otorhinolaryngologic disease +GARD:0019951,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0019951,GARD:0022531,GARD:0006333,,Rare genetic disease +GARD:0019951,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0019951,GARD:0022524,GARD:0006333,,Rare neurologic disease +GARD:0019951,GARD:0022513,GARD:0006333,,Rare developmental defect during embryogenesis +GARD:0019952,GARD:0022513,GARD:0020001,,Rare developmental defect during embryogenesis +GARD:0019952,GARD:0022528,GARD:0020001,,Rare otorhinolaryngologic disease +GARD:0019953,GARD:0022513,GARD:0020001,,Rare developmental defect during embryogenesis +GARD:0019953,GARD:0022528,GARD:0020001,,Rare otorhinolaryngologic disease +GARD:0019954,GARD:0022511,GARD:0004116,,Rare bone disease +GARD:0019954,GARD:0022513,GARD:0004116,,Rare developmental defect during embryogenesis +GARD:0019954,GARD:0022507,GARD:0004116,,Rare maxillo-facial surgical disease +GARD:0019954,GARD:0022531,GARD:0004116,,Rare genetic disease +GARD:0019955,GARD:0022527,GARD:0012663,,Rare circulatory system disease +GARD:0019955,GARD:0022513,GARD:0012663,,Rare developmental defect during embryogenesis +GARD:0019956,GARD:0022527,GARD:0012663,,Rare circulatory system disease +GARD:0019956,GARD:0022513,GARD:0012663,,Rare developmental defect during embryogenesis +GARD:0019957,GARD:0022527,GARD:0012663,,Rare circulatory system disease +GARD:0019957,GARD:0022513,GARD:0012663,,Rare developmental defect during embryogenesis +GARD:0019958,GARD:0022535,GARD:0021910,,Rare neoplastic disease +GARD:0019958,GARD:0022513,GARD:0021910,,Rare developmental defect during embryogenesis +GARD:0019958,GARD:0022527,GARD:0021910,,Rare circulatory system disease +GARD:0019959,GARD:0022527,GARD:0012662,,Rare circulatory system disease +GARD:0019959,GARD:0022524,GARD:0012662,,Rare neurologic disease +GARD:0019959,GARD:0022513,GARD:0012662,,Rare developmental defect during embryogenesis +GARD:0019960,GARD:0022527,GARD:0012662,,Rare circulatory system disease +GARD:0019960,GARD:0022513,GARD:0012662,,Rare developmental defect during embryogenesis +GARD:0019960,GARD:0022524,GARD:0012662,,Rare neurologic disease +GARD:0019961,GARD:0022527,GARD:0009789,,Rare circulatory system disease +GARD:0019961,GARD:0022513,GARD:0009789,,Rare developmental defect during embryogenesis +GARD:0019962,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0019962,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0019962,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0019963,GARD:0022513,GARD:0019973,,Rare developmental defect during embryogenesis +GARD:0019963,GARD:0022528,GARD:0019973,,Rare otorhinolaryngologic disease +GARD:0019964,GARD:0022513,GARD:0019972,GARD:0019975,Rare developmental defect during embryogenesis +GARD:0019964,GARD:0022507,GARD:0022507,GARD:0019965,Rare maxillo-facial surgical disease +GARD:0019964,GARD:0022513,GARD:0019972,GARD:0019967,Rare developmental defect during embryogenesis +GARD:0019964,GARD:0022513,GARD:0019972,GARD:0019970,Rare developmental defect during embryogenesis +GARD:0019964,GARD:0022507,GARD:0022507,GARD:0019975,Rare maxillo-facial surgical disease +GARD:0019964,GARD:0022507,GARD:0022507,GARD:0019967,Rare maxillo-facial surgical disease +GARD:0019964,GARD:0022513,GARD:0019972,GARD:0019965,Rare developmental defect during embryogenesis +GARD:0019964,GARD:0022507,GARD:0022507,GARD:0019970,Rare maxillo-facial surgical disease +GARD:0019965,GARD:0022513,GARD:0019964,GARD:0017663,Rare developmental defect during embryogenesis +GARD:0019965,GARD:0022507,GARD:0019964,GARD:0017663,Rare maxillo-facial surgical disease +GARD:0019965,GARD:0022513,GARD:0019964,GARD:0000884,Rare developmental defect during embryogenesis +GARD:0019965,GARD:0022507,GARD:0019964,GARD:0012642,Rare maxillo-facial surgical disease +GARD:0019965,GARD:0022507,GARD:0019964,GARD:0000884,Rare maxillo-facial surgical disease +GARD:0019965,GARD:0022513,GARD:0019964,GARD:0019971,Rare developmental defect during embryogenesis +GARD:0019965,GARD:0022513,GARD:0019964,GARD:0012642,Rare developmental defect during embryogenesis +GARD:0019965,GARD:0022513,GARD:0019964,GARD:0018756,Rare developmental defect during embryogenesis +GARD:0019965,GARD:0022507,GARD:0019964,GARD:0019971,Rare maxillo-facial surgical disease +GARD:0019965,GARD:0022513,GARD:0019964,GARD:0019966,Rare developmental defect during embryogenesis +GARD:0019965,GARD:0022507,GARD:0019964,GARD:0018756,Rare maxillo-facial surgical disease +GARD:0019965,GARD:0022507,GARD:0019964,GARD:0002390,Rare maxillo-facial surgical disease +GARD:0019965,GARD:0022513,GARD:0019964,GARD:0002390,Rare developmental defect during embryogenesis +GARD:0019965,GARD:0022507,GARD:0019964,GARD:0019966,Rare maxillo-facial surgical disease +GARD:0019966,GARD:0022513,GARD:0019965,,Rare developmental defect during embryogenesis +GARD:0019966,GARD:0022507,GARD:0019965,,Rare maxillo-facial surgical disease +GARD:0019967,GARD:0022507,GARD:0019964,GARD:0019977,Rare maxillo-facial surgical disease +GARD:0019967,GARD:0022513,GARD:0019964,GARD:0016974,Rare developmental defect during embryogenesis +GARD:0019967,GARD:0022513,GARD:0019964,GARD:0019978,Rare developmental defect during embryogenesis +GARD:0019967,GARD:0022513,GARD:0019964,GARD:0019968,Rare developmental defect during embryogenesis +GARD:0019967,GARD:0022507,GARD:0019964,GARD:0019969,Rare maxillo-facial surgical disease +GARD:0019967,GARD:0022513,GARD:0019964,GARD:0019969,Rare developmental defect during embryogenesis +GARD:0019967,GARD:0022507,GARD:0019964,GARD:0019968,Rare maxillo-facial surgical disease +GARD:0019967,GARD:0022507,GARD:0019964,GARD:0019978,Rare maxillo-facial surgical disease +GARD:0019967,GARD:0022513,GARD:0019964,GARD:0019977,Rare developmental defect during embryogenesis +GARD:0019967,GARD:0022507,GARD:0019964,GARD:0016974,Rare maxillo-facial surgical disease +GARD:0019968,GARD:0022513,GARD:0019967,,Rare developmental defect during embryogenesis +GARD:0019968,GARD:0022507,GARD:0019967,,Rare maxillo-facial surgical disease +GARD:0019969,GARD:0022513,GARD:0019967,,Rare developmental defect during embryogenesis +GARD:0019969,GARD:0022507,GARD:0019967,,Rare maxillo-facial surgical disease +GARD:0019970,GARD:0022531,GARD:0021740,GARD:0016975,Rare genetic disease +GARD:0019970,GARD:0022513,GARD:0019964,GARD:0016975,Rare developmental defect during embryogenesis +GARD:0019970,GARD:0022507,GARD:0019964,GARD:0016975,Rare maxillo-facial surgical disease +GARD:0019971,GARD:0022513,GARD:0019965,,Rare developmental defect during embryogenesis +GARD:0019971,GARD:0022507,GARD:0019965,,Rare maxillo-facial surgical disease +GARD:0019972,GARD:0022513,GARD:0022513,GARD:0018754,Rare developmental defect during embryogenesis +GARD:0019972,GARD:0022513,GARD:0022513,GARD:0016557,Rare developmental defect during embryogenesis +GARD:0019972,GARD:0022513,GARD:0022513,GARD:0001896,Rare developmental defect during embryogenesis +GARD:0019972,GARD:0022513,GARD:0022513,GARD:0019997,Rare developmental defect during embryogenesis +GARD:0019972,GARD:0022513,GARD:0022513,GARD:0019964,Rare developmental defect during embryogenesis +GARD:0019972,GARD:0022513,GARD:0022513,GARD:0019998,Rare developmental defect during embryogenesis +GARD:0019972,GARD:0022513,GARD:0022513,GARD:0019995,Rare developmental defect during embryogenesis +GARD:0019972,GARD:0022513,GARD:0022513,GARD:0003342,Rare developmental defect during embryogenesis +GARD:0019972,GARD:0022513,GARD:0022513,GARD:0019350,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022528,GARD:0019350,GARD:0019941,Rare otorhinolaryngologic disease +GARD:0019973,GARD:0022513,GARD:0019350,GARD:0019934,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022513,GARD:0019350,GARD:0019938,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022528,GARD:0019350,GARD:0019942,Rare otorhinolaryngologic disease +GARD:0019973,GARD:0022513,GARD:0019350,GARD:0019974,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022528,GARD:0019350,GARD:0005204,Rare otorhinolaryngologic disease +GARD:0019973,GARD:0022513,GARD:0019350,GARD:0019939,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022528,GARD:0019350,GARD:0019935,Rare otorhinolaryngologic disease +GARD:0019973,GARD:0022513,GARD:0019350,GARD:0019963,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022513,GARD:0019350,GARD:0019942,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022528,GARD:0019350,GARD:0016968,Rare otorhinolaryngologic disease +GARD:0019973,GARD:0022513,GARD:0019350,GARD:0019941,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022513,GARD:0019350,GARD:0005204,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022528,GARD:0019350,GARD:0019934,Rare otorhinolaryngologic disease +GARD:0019973,GARD:0022513,GARD:0019350,GARD:0016968,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022513,GARD:0019350,GARD:0019940,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022528,GARD:0019350,GARD:0019963,Rare otorhinolaryngologic disease +GARD:0019973,GARD:0022528,GARD:0019350,GARD:0019940,Rare otorhinolaryngologic disease +GARD:0019973,GARD:0022528,GARD:0019350,GARD:0019939,Rare otorhinolaryngologic disease +GARD:0019973,GARD:0022528,GARD:0019350,GARD:0019974,Rare otorhinolaryngologic disease +GARD:0019973,GARD:0022513,GARD:0019350,GARD:0019937,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022513,GARD:0019350,GARD:0016970,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022513,GARD:0019350,GARD:0019935,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022513,GARD:0019350,GARD:0019936,Rare developmental defect during embryogenesis +GARD:0019973,GARD:0022528,GARD:0019350,GARD:0019937,Rare otorhinolaryngologic disease +GARD:0019973,GARD:0022528,GARD:0019350,GARD:0019938,Rare otorhinolaryngologic disease +GARD:0019973,GARD:0022528,GARD:0019350,GARD:0016970,Rare otorhinolaryngologic disease +GARD:0019973,GARD:0022528,GARD:0019350,GARD:0019936,Rare otorhinolaryngologic disease +GARD:0019974,GARD:0022513,GARD:0019973,,Rare developmental defect during embryogenesis +GARD:0019974,GARD:0022528,GARD:0019973,,Rare otorhinolaryngologic disease +GARD:0019975,GARD:0022513,GARD:0019964,GARD:0016973,Rare developmental defect during embryogenesis +GARD:0019975,GARD:0022507,GARD:0019964,GARD:0016973,Rare maxillo-facial surgical disease +GARD:0019976,GARD:0022513,GARD:0001896,,Rare developmental defect during embryogenesis +GARD:0019976,GARD:0022507,GARD:0001896,,Rare maxillo-facial surgical disease +GARD:0019977,GARD:0022513,GARD:0019967,,Rare developmental defect during embryogenesis +GARD:0019977,GARD:0022507,GARD:0019967,,Rare maxillo-facial surgical disease +GARD:0019978,GARD:0022513,GARD:0019967,,Rare developmental defect during embryogenesis +GARD:0019978,GARD:0022507,GARD:0019967,,Rare maxillo-facial surgical disease +GARD:0019979,GARD:0022531,GARD:0020303,GARD:0019980,Rare genetic disease +GARD:0019979,GARD:0022528,GARD:0019350,GARD:0019994,Rare otorhinolaryngologic disease +GARD:0019979,GARD:0022511,GARD:0019207,GARD:0012074,Rare bone disease +GARD:0019979,GARD:0022511,GARD:0019207,GARD:0019994,Rare bone disease +GARD:0019979,GARD:0022531,GARD:0019207,GARD:0012074,Rare genetic disease +GARD:0019979,GARD:0022513,GARD:0019207,GARD:0012074,Rare developmental defect during embryogenesis +GARD:0019979,GARD:0022513,GARD:0019350,GARD:0012074,Rare developmental defect during embryogenesis +GARD:0019979,GARD:0022513,GARD:0019350,GARD:0019980,Rare developmental defect during embryogenesis +GARD:0019979,GARD:0022513,GARD:0019207,GARD:0009798,Rare developmental defect during embryogenesis +GARD:0019979,GARD:0022513,GARD:0019207,GARD:0019980,Rare developmental defect during embryogenesis +GARD:0019979,GARD:0022513,GARD:0019350,GARD:0019994,Rare developmental defect during embryogenesis +GARD:0019979,GARD:0022531,GARD:0020303,GARD:0009798,Rare genetic disease +GARD:0019979,GARD:0022531,GARD:0020303,GARD:0012074,Rare genetic disease +GARD:0019979,GARD:0022511,GARD:0019207,GARD:0019980,Rare bone disease +GARD:0019979,GARD:0022531,GARD:0019207,GARD:0019980,Rare genetic disease +GARD:0019979,GARD:0022513,GARD:0019207,GARD:0019994,Rare developmental defect during embryogenesis +GARD:0019979,GARD:0022528,GARD:0019350,GARD:0009798,Rare otorhinolaryngologic disease +GARD:0019979,GARD:0022528,GARD:0019350,GARD:0019980,Rare otorhinolaryngologic disease +GARD:0019979,GARD:0022507,GARD:0022507,GARD:0012074,Rare maxillo-facial surgical disease +GARD:0019979,GARD:0022531,GARD:0019207,GARD:0009798,Rare genetic disease +GARD:0019979,GARD:0022511,GARD:0019207,GARD:0009798,Rare bone disease +GARD:0019979,GARD:0022507,GARD:0022507,GARD:0009798,Rare maxillo-facial surgical disease +GARD:0019979,GARD:0022531,GARD:0019207,GARD:0019994,Rare genetic disease +GARD:0019979,GARD:0022507,GARD:0022507,GARD:0019980,Rare maxillo-facial surgical disease +GARD:0019979,GARD:0022528,GARD:0019350,GARD:0012074,Rare otorhinolaryngologic disease +GARD:0019979,GARD:0022513,GARD:0019350,GARD:0009798,Rare developmental defect during embryogenesis +GARD:0019979,GARD:0022507,GARD:0022507,GARD:0019994,Rare maxillo-facial surgical disease +GARD:0019979,GARD:0022531,GARD:0020303,GARD:0019994,Rare genetic disease +GARD:0019980,GARD:0022528,GARD:0019979,GARD:0009124,Rare otorhinolaryngologic disease +GARD:0019980,GARD:0022507,GARD:0019979,GARD:0017547,Rare maxillo-facial surgical disease +GARD:0019980,GARD:0022507,GARD:0019979,GARD:0009124,Rare maxillo-facial surgical disease +GARD:0019980,GARD:0022511,GARD:0019979,GARD:0005724,Rare bone disease +GARD:0019980,GARD:0022531,GARD:0019979,GARD:0017758,Rare genetic disease +GARD:0019980,GARD:0022513,GARD:0019979,GARD:0009124,Rare developmental defect during embryogenesis +GARD:0019980,GARD:0022513,GARD:0019979,GARD:0017300,Rare developmental defect during embryogenesis +GARD:0019980,GARD:0022528,GARD:0019979,GARD:0017300,Rare otorhinolaryngologic disease +GARD:0019980,GARD:0022528,GARD:0019979,GARD:0005724,Rare otorhinolaryngologic disease +GARD:0019980,GARD:0022528,GARD:0019979,GARD:0017758,Rare otorhinolaryngologic disease +GARD:0019980,GARD:0022511,GARD:0019979,GARD:0017758,Rare bone disease +GARD:0019980,GARD:0022513,GARD:0019979,GARD:0017758,Rare developmental defect during embryogenesis +GARD:0019980,GARD:0022513,GARD:0019979,GARD:0017547,Rare developmental defect during embryogenesis +GARD:0019980,GARD:0022531,GARD:0019979,GARD:0017300,Rare genetic disease +GARD:0019980,GARD:0022531,GARD:0019979,GARD:0017547,Rare genetic disease +GARD:0019980,GARD:0022531,GARD:0019979,GARD:0009124,Rare genetic disease +GARD:0019980,GARD:0022511,GARD:0019979,GARD:0009124,Rare bone disease +GARD:0019980,GARD:0022507,GARD:0019979,GARD:0017300,Rare maxillo-facial surgical disease +GARD:0019980,GARD:0022507,GARD:0019979,GARD:0017758,Rare maxillo-facial surgical disease +GARD:0019980,GARD:0022511,GARD:0019979,GARD:0017547,Rare bone disease +GARD:0019980,GARD:0022513,GARD:0019979,GARD:0005724,Rare developmental defect during embryogenesis +GARD:0019980,GARD:0022507,GARD:0019979,GARD:0005724,Rare maxillo-facial surgical disease +GARD:0019980,GARD:0022511,GARD:0019979,GARD:0017300,Rare bone disease +GARD:0019980,GARD:0022528,GARD:0019979,GARD:0017547,Rare otorhinolaryngologic disease +GARD:0019980,GARD:0022531,GARD:0019979,GARD:0005724,Rare genetic disease +GARD:0019981,GARD:0022525,GARD:0018844,GARD:0001421,Rare systemic or rheumatologic disease +GARD:0019981,GARD:0022527,GARD:0018844,GARD:0003068,Rare circulatory system disease +GARD:0019981,GARD:0022527,GARD:0018844,GARD:0009615,Rare circulatory system disease +GARD:0019981,GARD:0022525,GARD:0018844,GARD:0020569,Rare systemic or rheumatologic disease +GARD:0019981,GARD:0022525,GARD:0018844,GARD:0000848,Rare systemic or rheumatologic disease +GARD:0019981,GARD:0022525,GARD:0018844,GARD:0009615,Rare systemic or rheumatologic disease +GARD:0019981,GARD:0022527,GARD:0018844,GARD:0007730,Rare circulatory system disease +GARD:0019981,GARD:0022525,GARD:0018844,GARD:0003068,Rare systemic or rheumatologic disease +GARD:0019981,GARD:0022527,GARD:0018844,GARD:0001421,Rare circulatory system disease +GARD:0019981,GARD:0022527,GARD:0018844,GARD:0020569,Rare circulatory system disease +GARD:0019981,GARD:0022525,GARD:0018844,GARD:0007730,Rare systemic or rheumatologic disease +GARD:0019981,GARD:0022527,GARD:0018844,GARD:0000848,Rare circulatory system disease +GARD:0019982,GARD:0022525,GARD:0018844,GARD:0005969,Rare systemic or rheumatologic disease +GARD:0019982,GARD:0022527,GARD:0018844,GARD:0012383,Rare circulatory system disease +GARD:0019982,GARD:0022525,GARD:0018844,GARD:0007360,Rare systemic or rheumatologic disease +GARD:0019982,GARD:0022527,GARD:0018844,GARD:0015001,Rare circulatory system disease +GARD:0019982,GARD:0022527,GARD:0018844,GARD:0007360,Rare circulatory system disease +GARD:0019982,GARD:0022527,GARD:0018844,GARD:0005969,Rare circulatory system disease +GARD:0019982,GARD:0022525,GARD:0018844,GARD:0006816,Rare systemic or rheumatologic disease +GARD:0019982,GARD:0022525,GARD:0018844,GARD:0012383,Rare systemic or rheumatologic disease +GARD:0019982,GARD:0022527,GARD:0018844,GARD:0008703,Rare circulatory system disease +GARD:0019982,GARD:0022525,GARD:0018844,GARD:0015001,Rare systemic or rheumatologic disease +GARD:0019982,GARD:0022527,GARD:0018844,GARD:0006816,Rare circulatory system disease +GARD:0019982,GARD:0022525,GARD:0018844,GARD:0008703,Rare systemic or rheumatologic disease +GARD:0019983,GARD:0022525,GARD:0018844,GARD:0002551,Rare systemic or rheumatologic disease +GARD:0019983,GARD:0022527,GARD:0018844,GARD:0019984,Rare circulatory system disease +GARD:0019983,GARD:0022525,GARD:0018844,GARD:0008703,Rare systemic or rheumatologic disease +GARD:0019983,GARD:0022527,GARD:0018844,GARD:0012357,Rare circulatory system disease +GARD:0019983,GARD:0022525,GARD:0018844,GARD:0013011,Rare systemic or rheumatologic disease +GARD:0019983,GARD:0022527,GARD:0018844,GARD:0008703,Rare circulatory system disease +GARD:0019983,GARD:0022527,GARD:0018844,GARD:0013011,Rare circulatory system disease +GARD:0019983,GARD:0022525,GARD:0018844,GARD:0012357,Rare systemic or rheumatologic disease +GARD:0019983,GARD:0022527,GARD:0018844,GARD:0002551,Rare circulatory system disease +GARD:0019983,GARD:0022525,GARD:0018844,GARD:0019984,Rare systemic or rheumatologic disease +GARD:0019984,GARD:0022527,GARD:0019983,GARD:0008204,Rare circulatory system disease +GARD:0019984,GARD:0022527,GARD:0019983,GARD:0007851,Rare circulatory system disease +GARD:0019984,GARD:0022527,GARD:0019983,GARD:0006386,Rare circulatory system disease +GARD:0019984,GARD:0022525,GARD:0019983,GARD:0006386,Rare systemic or rheumatologic disease +GARD:0019984,GARD:0022525,GARD:0019983,GARD:0008204,Rare systemic or rheumatologic disease +GARD:0019984,GARD:0022527,GARD:0019983,GARD:0006725,Rare circulatory system disease +GARD:0019984,GARD:0022525,GARD:0019983,GARD:0007851,Rare systemic or rheumatologic disease +GARD:0019984,GARD:0022525,GARD:0019983,GARD:0008653,Rare systemic or rheumatologic disease +GARD:0019984,GARD:0022527,GARD:0019983,GARD:0008653,Rare circulatory system disease +GARD:0019984,GARD:0022525,GARD:0019983,GARD:0006725,Rare systemic or rheumatologic disease +GARD:0019985,GARD:0022531,GARD:0021630,GARD:0021618,Rare genetic disease +GARD:0019985,GARD:0022524,GARD:0018882,GARD:0021618,Rare neurologic disease +GARD:0019985,GARD:0022524,GARD:0018882,GARD:0018749,Rare neurologic disease +GARD:0019985,GARD:0022531,GARD:0021630,GARD:0018749,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0003436,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0010169,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0003295,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0017945,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0003049,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0006866,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0018654,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0001410,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0017356,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0007855,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0008378,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0017922,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0010413,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0010679,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0018777,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0009455,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0000322,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0001301,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0017743,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0005787,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0003427,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0009481,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0007830,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0008600,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0007002,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0007305,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0009652,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0009681,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0000206,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0016730,Rare genetic disease +GARD:0019986,GARD:0022531,GARD:0021544,GARD:0000359,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0003049,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0019990,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0001301,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0004683,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0019991,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0003436,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0019989,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0001410,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0017945,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0010168,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0019988,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0010121,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0019993,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0005787,Rare genetic disease +GARD:0019987,GARD:0022531,GARD:0021544,GARD:0019992,Rare genetic disease +GARD:0019988,GARD:0022531,GARD:0019987,GARD:0005694,Rare genetic disease +GARD:0019989,GARD:0022531,GARD:0019987,GARD:0011897,Rare genetic disease +GARD:0019989,GARD:0022531,GARD:0019987,GARD:0010790,Rare genetic disease +GARD:0019989,GARD:0022531,GARD:0019987,GARD:0005694,Rare genetic disease +GARD:0019989,GARD:0022531,GARD:0019987,GARD:0004484,Rare genetic disease +GARD:0019990,GARD:0022531,GARD:0019987,GARD:0000634,Rare genetic disease +GARD:0019990,GARD:0022531,GARD:0019987,GARD:0010790,Rare genetic disease +GARD:0019991,GARD:0022531,GARD:0019987,GARD:0007843,Rare genetic disease +GARD:0019992,GARD:0022531,GARD:0019987,GARD:0000322,Rare genetic disease +GARD:0019992,GARD:0022531,GARD:0019987,GARD:0010169,Rare genetic disease +GARD:0019992,GARD:0022531,GARD:0019987,GARD:0006866,Rare genetic disease +GARD:0019992,GARD:0022531,GARD:0019987,GARD:0000206,Rare genetic disease +GARD:0019992,GARD:0022531,GARD:0019987,GARD:0017356,Rare genetic disease +GARD:0019992,GARD:0022531,GARD:0019987,GARD:0004665,Rare genetic disease +GARD:0019993,GARD:0022531,GARD:0019987,GARD:0012635,Rare genetic disease +GARD:0019993,GARD:0022531,GARD:0019987,GARD:0006866,Rare genetic disease +GARD:0019993,GARD:0022531,GARD:0019987,GARD:0003427,Rare genetic disease +GARD:0019994,GARD:0022513,GARD:0019979,GARD:0007784,Rare developmental defect during embryogenesis +GARD:0019994,GARD:0022528,GARD:0019979,GARD:0003169,Rare otorhinolaryngologic disease +GARD:0019994,GARD:0022528,GARD:0019979,GARD:0010147,Rare otorhinolaryngologic disease +GARD:0019994,GARD:0022531,GARD:0019979,GARD:0010147,Rare genetic disease +GARD:0019994,GARD:0022511,GARD:0019979,GARD:0007784,Rare bone disease +GARD:0019994,GARD:0022511,GARD:0019979,GARD:0010147,Rare bone disease +GARD:0019994,GARD:0022513,GARD:0019979,GARD:0003169,Rare developmental defect during embryogenesis +GARD:0019994,GARD:0022511,GARD:0019979,GARD:0003169,Rare bone disease +GARD:0019994,GARD:0022531,GARD:0019979,GARD:0007784,Rare genetic disease +GARD:0019994,GARD:0022528,GARD:0019979,GARD:0007784,Rare otorhinolaryngologic disease +GARD:0019994,GARD:0022531,GARD:0019979,GARD:0003169,Rare genetic disease +GARD:0019994,GARD:0022513,GARD:0019979,GARD:0010147,Rare developmental defect during embryogenesis +GARD:0019994,GARD:0022507,GARD:0019979,GARD:0007784,Rare maxillo-facial surgical disease +GARD:0019994,GARD:0022507,GARD:0019979,GARD:0010147,Rare maxillo-facial surgical disease +GARD:0019994,GARD:0022507,GARD:0019979,GARD:0003169,Rare maxillo-facial surgical disease +GARD:0019995,GARD:0022507,GARD:0022507,GARD:0019996,Rare maxillo-facial surgical disease +GARD:0019995,GARD:0022531,GARD:0020303,GARD:0016972,Rare genetic disease +GARD:0019995,GARD:0022513,GARD:0019972,GARD:0016972,Rare developmental defect during embryogenesis +GARD:0019995,GARD:0022513,GARD:0019972,GARD:0019996,Rare developmental defect during embryogenesis +GARD:0019995,GARD:0022507,GARD:0022507,GARD:0016972,Rare maxillo-facial surgical disease +GARD:0019995,GARD:0022531,GARD:0020303,GARD:0019996,Rare genetic disease +GARD:0019996,GARD:0022531,GARD:0019995,GARD:0004116,Rare genetic disease +GARD:0019996,GARD:0022531,GARD:0019995,GARD:0010692,Rare genetic disease +GARD:0019996,GARD:0022513,GARD:0019995,GARD:0004116,Rare developmental defect during embryogenesis +GARD:0019996,GARD:0022507,GARD:0019995,GARD:0004116,Rare maxillo-facial surgical disease +GARD:0019996,GARD:0022513,GARD:0019995,GARD:0010692,Rare developmental defect during embryogenesis +GARD:0019996,GARD:0022507,GARD:0019995,GARD:0010692,Rare maxillo-facial surgical disease +GARD:0019997,GARD:0022507,GARD:0022507,GARD:0008549,Rare maxillo-facial surgical disease +GARD:0019997,GARD:0022513,GARD:0019972,GARD:0008549,Rare developmental defect during embryogenesis +GARD:0019997,GARD:0022513,GARD:0019972,GARD:0008583,Rare developmental defect during embryogenesis +GARD:0019997,GARD:0022531,GARD:0020303,GARD:0008583,Rare genetic disease +GARD:0019997,GARD:0022507,GARD:0022507,GARD:0017379,Rare maxillo-facial surgical disease +GARD:0019997,GARD:0022531,GARD:0020303,GARD:0008549,Rare genetic disease +GARD:0019997,GARD:0022531,GARD:0020303,GARD:0017379,Rare genetic disease +GARD:0019997,GARD:0022507,GARD:0022507,GARD:0008583,Rare maxillo-facial surgical disease +GARD:0019997,GARD:0022513,GARD:0019972,GARD:0017379,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0008414,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0002076,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0007475,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0021189,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0001233,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0008414,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0000029,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0019168,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0010692,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0006973,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0006992,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0006992,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0021545,Rare genetic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0010277,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0008414,Rare genetic disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0000792,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0010147,Rare genetic disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0008410,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0021051,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0001233,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0000792,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0004347,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0010147,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0000792,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0019168,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0010692,Rare genetic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0004347,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0019908,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0007649,Rare genetic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0000792,Rare genetic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0022326,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0006992,Rare genetic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0021189,Rare genetic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0003382,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0000029,Rare genetic disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0003382,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0005802,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0019908,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0001233,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0008410,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0007475,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0021051,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0005802,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0019962,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0007475,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0019895,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0007649,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0006973,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0005121,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0010277,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0003361,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0000029,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0002076,Rare genetic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0006571,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0022326,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0006571,Rare genetic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0006973,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0006992,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0010277,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0006571,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0003343,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0019895,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0007475,Rare genetic disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0007649,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0005121,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0010865,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0004347,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0006571,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0010865,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0007706,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0021051,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0022326,Rare genetic disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0003343,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0004347,Rare genetic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0006973,Rare genetic disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0003361,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0007706,Rare genetic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0000029,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0008414,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0019168,Rare genetic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0010147,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0003343,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0019962,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0010277,Rare genetic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0005802,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0002076,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0003361,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0002076,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0019908,Rare genetic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0019168,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0010692,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0007649,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0010865,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0001233,Rare genetic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0010692,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0019908,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0022326,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0021189,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0005121,Rare genetic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0005802,Rare genetic disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0005121,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0003361,Rare genetic disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0003382,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0008410,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0003343,Rare genetic disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0010147,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0003382,Rare genetic disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0007706,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022507,GARD:0022507,GARD:0021189,Rare maxillo-facial surgical disease +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0007706,Rare otorhinolaryngologic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0010865,Rare genetic disease +GARD:0019998,GARD:0022531,GARD:0020303,GARD:0008410,Rare genetic disease +GARD:0019998,GARD:0022513,GARD:0019972,GARD:0019895,Rare developmental defect during embryogenesis +GARD:0019998,GARD:0022528,GARD:0022528,GARD:0019962,Rare otorhinolaryngologic disease +GARD:0019999,GARD:0022528,GARD:0019350,GARD:0016835,Rare otorhinolaryngologic disease +GARD:0019999,GARD:0022528,GARD:0019350,GARD:0017633,Rare otorhinolaryngologic disease +GARD:0019999,GARD:0022513,GARD:0019350,GARD:0000431,Rare developmental defect during embryogenesis +GARD:0019999,GARD:0022531,GARD:0021809,GARD:0017633,Rare genetic disease +GARD:0019999,GARD:0022513,GARD:0019350,GARD:0016969,Rare developmental defect during embryogenesis +GARD:0019999,GARD:0022513,GARD:0019350,GARD:0017926,Rare developmental defect during embryogenesis +GARD:0019999,GARD:0022513,GARD:0019350,GARD:0017633,Rare developmental defect during embryogenesis +GARD:0019999,GARD:0022528,GARD:0019350,GARD:0016969,Rare otorhinolaryngologic disease +GARD:0019999,GARD:0022531,GARD:0021809,GARD:0000431,Rare genetic disease +GARD:0019999,GARD:0022513,GARD:0019350,GARD:0004638,Rare developmental defect during embryogenesis +GARD:0019999,GARD:0022531,GARD:0021809,GARD:0016835,Rare genetic disease +GARD:0019999,GARD:0022528,GARD:0019350,GARD:0000431,Rare otorhinolaryngologic disease +GARD:0019999,GARD:0022531,GARD:0021809,GARD:0017926,Rare genetic disease +GARD:0019999,GARD:0022528,GARD:0019350,GARD:0004638,Rare otorhinolaryngologic disease +GARD:0019999,GARD:0022531,GARD:0021809,GARD:0016969,Rare genetic disease +GARD:0019999,GARD:0022528,GARD:0019350,GARD:0017926,Rare otorhinolaryngologic disease +GARD:0019999,GARD:0022531,GARD:0021809,GARD:0004638,Rare genetic disease +GARD:0019999,GARD:0022513,GARD:0019350,GARD:0016835,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0020039,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0006848,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0004238,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0004627,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0017784,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0019944,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0019947,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0019949,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0010041,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0019945,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0019882,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0022366,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0019951,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0004238,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0021941,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0010595,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0010041,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0016984,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0019944,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0000364,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0016984,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0006848,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0019951,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0019946,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0016898,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0016951,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0016951,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0008755,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0004627,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0019882,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0019947,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0008755,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0022366,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0017784,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0010595,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0019945,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0020039,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0021941,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0019946,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0019949,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0016898,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0000364,Rare otorhinolaryngologic disease +GARD:0020000,GARD:0022513,GARD:0019350,GARD:0000884,Rare developmental defect during embryogenesis +GARD:0020000,GARD:0022528,GARD:0019350,GARD:0000884,Rare otorhinolaryngologic disease +GARD:0020001,GARD:0022528,GARD:0019350,GARD:0006865,Rare otorhinolaryngologic disease +GARD:0020001,GARD:0022513,GARD:0019350,GARD:0003188,Rare developmental defect during embryogenesis +GARD:0020001,GARD:0022528,GARD:0019350,GARD:0003194,Rare otorhinolaryngologic disease +GARD:0020001,GARD:0022528,GARD:0019350,GARD:0005509,Rare otorhinolaryngologic disease +GARD:0020001,GARD:0022513,GARD:0019350,GARD:0019953,Rare developmental defect during embryogenesis +GARD:0020001,GARD:0022513,GARD:0019350,GARD:0012713,Rare developmental defect during embryogenesis +GARD:0020001,GARD:0022513,GARD:0019350,GARD:0003191,Rare developmental defect during embryogenesis +GARD:0020001,GARD:0022528,GARD:0019350,GARD:0019893,Rare otorhinolaryngologic disease +GARD:0020001,GARD:0022528,GARD:0019350,GARD:0003188,Rare otorhinolaryngologic disease +GARD:0020001,GARD:0022528,GARD:0019350,GARD:0003191,Rare otorhinolaryngologic disease +GARD:0020001,GARD:0022528,GARD:0019350,GARD:0019891,Rare otorhinolaryngologic disease +GARD:0020001,GARD:0022513,GARD:0019350,GARD:0003194,Rare developmental defect during embryogenesis +GARD:0020001,GARD:0022513,GARD:0019350,GARD:0005509,Rare developmental defect during embryogenesis +GARD:0020001,GARD:0022513,GARD:0019350,GARD:0019891,Rare developmental defect during embryogenesis +GARD:0020001,GARD:0022513,GARD:0019350,GARD:0019893,Rare developmental defect during embryogenesis +GARD:0020001,GARD:0022528,GARD:0019350,GARD:0016596,Rare otorhinolaryngologic disease +GARD:0020001,GARD:0022528,GARD:0019350,GARD:0005470,Rare otorhinolaryngologic disease +GARD:0020001,GARD:0022528,GARD:0019350,GARD:0019952,Rare otorhinolaryngologic disease +GARD:0020001,GARD:0022513,GARD:0019350,GARD:0006865,Rare developmental defect during embryogenesis +GARD:0020001,GARD:0022513,GARD:0019350,GARD:0005470,Rare developmental defect during embryogenesis +GARD:0020001,GARD:0022528,GARD:0019350,GARD:0012713,Rare otorhinolaryngologic disease +GARD:0020001,GARD:0022528,GARD:0019350,GARD:0019953,Rare otorhinolaryngologic disease +GARD:0020001,GARD:0022513,GARD:0019350,GARD:0019952,Rare developmental defect during embryogenesis +GARD:0020001,GARD:0022513,GARD:0019350,GARD:0016596,Rare developmental defect during embryogenesis +GARD:0020002,GARD:0022528,GARD:0019350,GARD:0005233,Rare otorhinolaryngologic disease +GARD:0020002,GARD:0022513,GARD:0019350,GARD:0010515,Rare developmental defect during embryogenesis +GARD:0020002,GARD:0022513,GARD:0019350,GARD:0012008,Rare developmental defect during embryogenesis +GARD:0020002,GARD:0022528,GARD:0019350,GARD:0010515,Rare otorhinolaryngologic disease +GARD:0020002,GARD:0022528,GARD:0019350,GARD:0012008,Rare otorhinolaryngologic disease +GARD:0020002,GARD:0022513,GARD:0019350,GARD:0005233,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0022332,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0012814,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0017894,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0012845,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0017797,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0017961,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0000029,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0006666,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0018016,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0012779,Rare surgical cardiac disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0022370,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0019883,Rare genetic disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0016684,Rare surgical cardiac disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0019561,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0022370,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0000804,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0017797,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0017961,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0002613,Rare genetic disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0017148,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0002742,Rare genetic disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0002613,Rare surgical cardiac disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0006666,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0017998,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0010081,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0017840,Rare genetic disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0017588,Rare surgical cardiac disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0012613,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0017998,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0012845,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0017840,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0017840,Rare surgical cardiac disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0017961,Rare surgical cardiac disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0016684,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0000804,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0017148,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0002098,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0017588,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0017797,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0002742,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0007891,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0016566,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0017998,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0000029,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0010247,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0000029,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0010089,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0010299,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0017116,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0010299,Rare genetic disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0001301,Rare surgical cardiac disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0010081,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0022332,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0010354,Rare genetic disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0022397,Rare surgical cardiac disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0012779,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0017894,Rare surgical cardiac disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0020594,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0020594,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0016684,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0008338,Rare genetic disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0010247,Rare surgical cardiac disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0018774,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0010299,Rare surgical cardiac disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0017785,Rare surgical cardiac disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0017948,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0012779,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0012613,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0017948,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0005175,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0010081,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0000405,Rare genetic disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0006666,Rare surgical cardiac disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0017116,Rare surgical cardiac disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0022332,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0017148,Rare genetic disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0016566,Rare surgical cardiac disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0022370,Rare surgical cardiac disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0018016,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0017785,Rare genetic disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0008338,Rare surgical cardiac disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0022397,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0019883,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0022068,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0002742,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0010089,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0022068,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0012814,Rare surgical cardiac disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0021607,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0002613,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0019883,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0001301,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0012845,Rare surgical cardiac disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0007891,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0000405,Rare surgical cardiac disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0021607,Rare surgical cardiac disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0010089,Rare surgical cardiac disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0008338,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0018774,Rare surgical cardiac disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0007891,Rare surgical cardiac disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0010354,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0005175,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0001301,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0018926,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0002098,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0018774,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0010354,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0005175,Rare surgical cardiac disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0019561,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0002098,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0020594,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0010247,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0017588,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0000804,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0021607,Rare genetic disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0018926,Rare surgical cardiac disease +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0022068,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0018926,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0019561,Rare genetic disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0016566,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0017948,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0017785,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022519,GARD:0022519,GARD:0012613,Rare surgical cardiac disease +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0018016,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0012814,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0017894,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022531,GARD:0019399,GARD:0022397,Rare genetic disease +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0017116,Rare developmental defect during embryogenesis +GARD:0020003,GARD:0022513,GARD:0022519,GARD:0000405,Rare developmental defect during embryogenesis +GARD:0020004,GARD:0022531,GARD:0022531,GARD:0019790,Rare genetic disease +GARD:0020004,GARD:0022531,GARD:0022531,GARD:0000370,Rare genetic disease +GARD:0020004,GARD:0022531,GARD:0022531,GARD:0020006,Rare genetic disease +GARD:0020004,GARD:0022531,GARD:0022531,GARD:0010083,Rare genetic disease +GARD:0020004,GARD:0022531,GARD:0022531,GARD:0017279,Rare genetic disease +GARD:0020004,GARD:0022531,GARD:0022531,GARD:0002791,Rare genetic disease +GARD:0020004,GARD:0022531,GARD:0022531,GARD:0020005,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0021621,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0017833,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0017820,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0005177,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0017356,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0004665,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0017980,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0017746,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0005258,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0001410,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0010593,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0013114,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0008378,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0017363,Rare genetic disease +GARD:0020005,GARD:0022531,GARD:0020004,GARD:0021637,Rare genetic disease +GARD:0020006,GARD:0022531,GARD:0020004,GARD:0016683,Rare genetic disease +GARD:0020006,GARD:0022531,GARD:0020004,GARD:0006002,Rare genetic disease +GARD:0020006,GARD:0022531,GARD:0020004,GARD:0022144,Rare genetic disease +GARD:0020006,GARD:0022531,GARD:0020004,GARD:0021976,Rare genetic disease +GARD:0020006,GARD:0022531,GARD:0020004,GARD:0000794,Rare genetic disease +GARD:0020006,GARD:0022531,GARD:0020004,GARD:0021983,Rare genetic disease +GARD:0020006,GARD:0022531,GARD:0020004,GARD:0006233,Rare genetic disease +GARD:0020006,GARD:0022531,GARD:0020004,GARD:0000804,Rare genetic disease +GARD:0020006,GARD:0022531,GARD:0020004,GARD:0010583,Rare genetic disease +GARD:0020006,GARD:0022531,GARD:0020004,GARD:0009457,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0000341,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0002322,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0017190,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0011894,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0004867,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0006233,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0010407,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0003319,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0012382,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0016664,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0008535,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0004484,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0016531,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0021801,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0020311,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0017944,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0010775,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0004997,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0020944,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0012357,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0005784,Rare genetic disease +GARD:0020007,GARD:0022531,GARD:0022531,GARD:0016909,Rare genetic disease +GARD:0020008,GARD:0022531,GARD:0022531,GARD:0004520,Rare genetic disease +GARD:0020008,GARD:0022531,GARD:0022531,GARD:0012811,Rare genetic disease +GARD:0020008,GARD:0022531,GARD:0022531,GARD:0020009,Rare genetic disease +GARD:0020008,GARD:0022531,GARD:0022531,GARD:0021481,Rare genetic disease +GARD:0020009,GARD:0022531,GARD:0020008,GARD:0005461,Rare genetic disease +GARD:0020009,GARD:0022531,GARD:0020008,GARD:0020064,Rare genetic disease +GARD:0020009,GARD:0022531,GARD:0020008,GARD:0016840,Rare genetic disease +GARD:0020009,GARD:0022531,GARD:0020008,GARD:0007100,Rare genetic disease +GARD:0020009,GARD:0022531,GARD:0020008,GARD:0017323,Rare genetic disease +GARD:0020010,GARD:0022531,GARD:0019400,GARD:0007891,Rare genetic disease +GARD:0020010,GARD:0022512,GARD:0019232,GARD:0004553,Rare renal disease +GARD:0020010,GARD:0022527,GARD:0019232,GARD:0007891,Rare circulatory system disease +GARD:0020010,GARD:0022531,GARD:0019400,GARD:0016772,Rare genetic disease +GARD:0020010,GARD:0022531,GARD:0019400,GARD:0000967,Rare genetic disease +GARD:0020010,GARD:0022527,GARD:0019232,GARD:0020630,Rare circulatory system disease +GARD:0020010,GARD:0022531,GARD:0019400,GARD:0007381,Rare genetic disease +GARD:0020010,GARD:0022531,GARD:0019400,GARD:0019093,Rare genetic disease +GARD:0020010,GARD:0022531,GARD:0019400,GARD:0020630,Rare genetic disease +GARD:0020010,GARD:0022512,GARD:0019232,GARD:0007381,Rare renal disease +GARD:0020010,GARD:0022527,GARD:0019232,GARD:0007381,Rare circulatory system disease +GARD:0020010,GARD:0022527,GARD:0019232,GARD:0002858,Rare circulatory system disease +GARD:0020010,GARD:0022527,GARD:0019232,GARD:0004553,Rare circulatory system disease +GARD:0020010,GARD:0022512,GARD:0019232,GARD:0007866,Rare renal disease +GARD:0020010,GARD:0022512,GARD:0019232,GARD:0000967,Rare renal disease +GARD:0020010,GARD:0022527,GARD:0019232,GARD:0000433,Rare circulatory system disease +GARD:0020010,GARD:0022527,GARD:0019232,GARD:0016772,Rare circulatory system disease +GARD:0020010,GARD:0022531,GARD:0019400,GARD:0004553,Rare genetic disease +GARD:0020010,GARD:0022527,GARD:0019232,GARD:0019093,Rare circulatory system disease +GARD:0020010,GARD:0022531,GARD:0019400,GARD:0002858,Rare genetic disease +GARD:0020010,GARD:0022512,GARD:0019232,GARD:0016772,Rare renal disease +GARD:0020010,GARD:0022512,GARD:0019232,GARD:0020630,Rare renal disease +GARD:0020010,GARD:0022512,GARD:0019232,GARD:0007891,Rare renal disease +GARD:0020010,GARD:0022527,GARD:0019232,GARD:0007866,Rare circulatory system disease +GARD:0020010,GARD:0022512,GARD:0019232,GARD:0002858,Rare renal disease +GARD:0020010,GARD:0022512,GARD:0019232,GARD:0000433,Rare renal disease +GARD:0020010,GARD:0022512,GARD:0019232,GARD:0009643,Rare renal disease +GARD:0020010,GARD:0022531,GARD:0019400,GARD:0000433,Rare genetic disease +GARD:0020010,GARD:0022531,GARD:0019400,GARD:0007866,Rare genetic disease +GARD:0020010,GARD:0022512,GARD:0019232,GARD:0019093,Rare renal disease +GARD:0020010,GARD:0022531,GARD:0019400,GARD:0009643,Rare genetic disease +GARD:0020010,GARD:0022527,GARD:0019232,GARD:0000967,Rare circulatory system disease +GARD:0020010,GARD:0022527,GARD:0019232,GARD:0009643,Rare circulatory system disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0021481,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0012597,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0018935,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0021992,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0017352,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0016548,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0021806,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0020316,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0019797,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0020012,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0021053,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0020315,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0020313,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0020317,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0020312,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0020233,Rare genetic disease +GARD:0020011,GARD:0022531,GARD:0022531,GARD:0020314,Rare genetic disease +GARD:0020012,GARD:0022531,GARD:0020011,GARD:0001467,Rare genetic disease +GARD:0020012,GARD:0022531,GARD:0020011,GARD:0013108,Rare genetic disease +GARD:0020012,GARD:0022531,GARD:0020011,GARD:0020141,Rare genetic disease +GARD:0020012,GARD:0022531,GARD:0020011,GARD:0010486,Rare genetic disease +GARD:0020012,GARD:0022531,GARD:0020011,GARD:0019272,Rare genetic disease +GARD:0020012,GARD:0022531,GARD:0020011,GARD:0020560,Rare genetic disease +GARD:0020012,GARD:0022531,GARD:0020011,GARD:0017727,Rare genetic disease +GARD:0020012,GARD:0022531,GARD:0020011,GARD:0012312,Rare genetic disease +GARD:0020012,GARD:0022531,GARD:0020011,GARD:0003924,Rare genetic disease +GARD:0020012,GARD:0022531,GARD:0020011,GARD:0019293,Rare genetic disease +GARD:0020013,GARD:0022531,GARD:0019861,,Rare genetic disease +GARD:0020013,GARD:0022531,GARD:0021016,,Rare genetic disease +GARD:0020013,GARD:0022513,GARD:0010875,,Rare developmental defect during embryogenesis +GARD:0020013,GARD:0022536,GARD:0019861,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020013,GARD:0022519,GARD:0010875,,Rare surgical cardiac disease +GARD:0020013,GARD:0022513,GARD:0019861,,Rare developmental defect during embryogenesis +GARD:0020013,GARD:0022534,GARD:0019861,,Rare abdominal surgical disease +GARD:0020014,GARD:0022531,GARD:0021923,,Rare genetic disease +GARD:0020014,GARD:0022535,GARD:0020458,,Rare neoplastic disease +GARD:0020014,GARD:0022513,GARD:0020458,,Rare developmental defect during embryogenesis +GARD:0020014,GARD:0022527,GARD:0020458,,Rare circulatory system disease +GARD:0020015,GARD:0022513,GARD:0019872,GARD:0021206,Rare developmental defect during embryogenesis +GARD:0020015,GARD:0022513,GARD:0021572,GARD:0021205,Rare developmental defect during embryogenesis +GARD:0020015,GARD:0022513,GARD:0019872,GARD:0021203,Rare developmental defect during embryogenesis +GARD:0020015,GARD:0022513,GARD:0021572,GARD:0021204,Rare developmental defect during embryogenesis +GARD:0020015,GARD:0022513,GARD:0021572,GARD:0021203,Rare developmental defect during embryogenesis +GARD:0020015,GARD:0022531,GARD:0019872,GARD:0021207,Rare genetic disease +GARD:0020015,GARD:0022513,GARD:0021572,GARD:0021206,Rare developmental defect during embryogenesis +GARD:0020015,GARD:0022513,GARD:0019872,GARD:0021207,Rare developmental defect during embryogenesis +GARD:0020015,GARD:0022531,GARD:0019872,GARD:0021203,Rare genetic disease +GARD:0020015,GARD:0022531,GARD:0021726,GARD:0021203,Rare genetic disease +GARD:0020015,GARD:0022511,GARD:0021572,GARD:0021206,Rare bone disease +GARD:0020015,GARD:0022511,GARD:0021572,GARD:0021207,Rare bone disease +GARD:0020015,GARD:0022511,GARD:0021572,GARD:0021204,Rare bone disease +GARD:0020015,GARD:0022531,GARD:0019872,GARD:0021204,Rare genetic disease +GARD:0020015,GARD:0022513,GARD:0019872,GARD:0021204,Rare developmental defect during embryogenesis +GARD:0020015,GARD:0022531,GARD:0019872,GARD:0021206,Rare genetic disease +GARD:0020015,GARD:0022531,GARD:0021726,GARD:0021206,Rare genetic disease +GARD:0020015,GARD:0022513,GARD:0019872,GARD:0021205,Rare developmental defect during embryogenesis +GARD:0020015,GARD:0022511,GARD:0021572,GARD:0021205,Rare bone disease +GARD:0020015,GARD:0022531,GARD:0021726,GARD:0021207,Rare genetic disease +GARD:0020015,GARD:0022513,GARD:0021572,GARD:0021207,Rare developmental defect during embryogenesis +GARD:0020015,GARD:0022531,GARD:0021726,GARD:0021205,Rare genetic disease +GARD:0020015,GARD:0022531,GARD:0021726,GARD:0021204,Rare genetic disease +GARD:0020015,GARD:0022511,GARD:0021572,GARD:0021203,Rare bone disease +GARD:0020015,GARD:0022531,GARD:0019872,GARD:0021205,Rare genetic disease +GARD:0020016,GARD:0022535,GARD:0018907,,Rare neoplastic disease +GARD:0020017,GARD:0022524,GARD:0019387,GARD:0010795,Rare neurologic disease +GARD:0020017,GARD:0022524,GARD:0019387,GARD:0009257,Rare neurologic disease +GARD:0020017,GARD:0022524,GARD:0019387,GARD:0010794,Rare neurologic disease +GARD:0020018,GARD:0022510,GARD:0008231,,Rare skin disease +GARD:0020018,GARD:0022525,GARD:0008231,,Rare systemic or rheumatologic disease +GARD:0020019,GARD:0022510,GARD:0008231,,Rare skin disease +GARD:0020019,GARD:0022525,GARD:0008231,,Rare systemic or rheumatologic disease +GARD:0020020,GARD:0022510,GARD:0008231,,Rare skin disease +GARD:0020020,GARD:0022525,GARD:0008231,,Rare systemic or rheumatologic disease +GARD:0020021,GARD:0022510,GARD:0008231,,Rare skin disease +GARD:0020021,GARD:0022525,GARD:0008231,,Rare systemic or rheumatologic disease +GARD:0020022,GARD:0022522,GARD:0008317,,Rare hematologic disease +GARD:0020022,GARD:0022535,GARD:0008317,,Rare neoplastic disease +GARD:0020022,GARD:0022510,GARD:0008231,,Rare skin disease +GARD:0020022,GARD:0022536,GARD:0008317,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020022,GARD:0022525,GARD:0008231,,Rare systemic or rheumatologic disease +GARD:0020023,GARD:0022525,GARD:0008231,,Rare systemic or rheumatologic disease +GARD:0020023,GARD:0022510,GARD:0008231,,Rare skin disease +GARD:0020024,GARD:0022523,GARD:0022523,GARD:0020025,Rare immune disease +GARD:0020024,GARD:0022523,GARD:0022523,GARD:0020026,Rare immune disease +GARD:0020025,GARD:0022536,GARD:0022063,GARD:0010915,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020025,GARD:0022531,GARD:0020117,GARD:0006589,Rare genetic disease +GARD:0020025,GARD:0022531,GARD:0020117,GARD:0010915,Rare genetic disease +GARD:0020025,GARD:0022523,GARD:0020117,GARD:0021515,Rare immune disease +GARD:0020025,GARD:0022523,GARD:0020024,GARD:0006589,Rare immune disease +GARD:0020025,GARD:0022536,GARD:0022063,GARD:0021515,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020025,GARD:0022536,GARD:0022063,GARD:0006589,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020025,GARD:0022523,GARD:0020117,GARD:0006589,Rare immune disease +GARD:0020025,GARD:0022523,GARD:0020117,GARD:0010915,Rare immune disease +GARD:0020025,GARD:0022523,GARD:0020024,GARD:0010915,Rare immune disease +GARD:0020025,GARD:0022531,GARD:0020117,GARD:0021515,Rare genetic disease +GARD:0020025,GARD:0022523,GARD:0020024,GARD:0021515,Rare immune disease +GARD:0020026,GARD:0022523,GARD:0020024,GARD:0012124,Rare immune disease +GARD:0020026,GARD:0022523,GARD:0020024,GARD:0020027,Rare immune disease +GARD:0020026,GARD:0022523,GARD:0020024,GARD:0022462,Rare immune disease +GARD:0020026,GARD:0022523,GARD:0020024,GARD:0007857,Rare immune disease +GARD:0020027,GARD:0022523,GARD:0020026,,Rare immune disease +GARD:0020028,GARD:0022531,GARD:0018915,GARD:0021988,Rare genetic disease +GARD:0020028,GARD:0022531,GARD:0018915,GARD:0019490,Rare genetic disease +GARD:0020028,GARD:0022531,GARD:0018915,GARD:0021039,Rare genetic disease +GARD:0020028,GARD:0022531,GARD:0018915,GARD:0019492,Rare genetic disease +GARD:0020028,GARD:0022531,GARD:0018915,GARD:0006406,Rare genetic disease +GARD:0020029,GARD:0022531,GARD:0020280,GARD:0001305,Rare genetic disease +GARD:0020029,GARD:0022524,GARD:0019096,GARD:0010902,Rare neurologic disease +GARD:0020029,GARD:0022531,GARD:0020280,GARD:0005643,Rare genetic disease +GARD:0020029,GARD:0022524,GARD:0019096,GARD:0006801,Rare neurologic disease +GARD:0020029,GARD:0022531,GARD:0020280,GARD:0004071,Rare genetic disease +GARD:0020029,GARD:0022531,GARD:0020280,GARD:0010686,Rare genetic disease +GARD:0020029,GARD:0022524,GARD:0019096,GARD:0004071,Rare neurologic disease +GARD:0020029,GARD:0022531,GARD:0020280,GARD:0006801,Rare genetic disease +GARD:0020029,GARD:0022524,GARD:0019096,GARD:0010686,Rare neurologic disease +GARD:0020029,GARD:0022524,GARD:0019096,GARD:0017906,Rare neurologic disease +GARD:0020029,GARD:0022531,GARD:0020280,GARD:0010469,Rare genetic disease +GARD:0020029,GARD:0022524,GARD:0019096,GARD:0010469,Rare neurologic disease +GARD:0020029,GARD:0022524,GARD:0019096,GARD:0016986,Rare neurologic disease +GARD:0020029,GARD:0022531,GARD:0020280,GARD:0017906,Rare genetic disease +GARD:0020029,GARD:0022531,GARD:0020280,GARD:0010902,Rare genetic disease +GARD:0020029,GARD:0022524,GARD:0019096,GARD:0004072,Rare neurologic disease +GARD:0020029,GARD:0022524,GARD:0019096,GARD:0001305,Rare neurologic disease +GARD:0020029,GARD:0022524,GARD:0019096,GARD:0005643,Rare neurologic disease +GARD:0020029,GARD:0022531,GARD:0020280,GARD:0004072,Rare genetic disease +GARD:0020029,GARD:0022531,GARD:0020280,GARD:0016986,Rare genetic disease +GARD:0020030,GARD:0022531,GARD:0022531,GARD:0020318,Rare genetic disease +GARD:0020030,GARD:0022531,GARD:0022531,GARD:0017748,Rare genetic disease +GARD:0020030,GARD:0022531,GARD:0022531,GARD:0013056,Rare genetic disease +GARD:0020030,GARD:0022531,GARD:0022531,GARD:0020319,Rare genetic disease +GARD:0020030,GARD:0022531,GARD:0022531,GARD:0007337,Rare genetic disease +GARD:0020030,GARD:0022531,GARD:0022531,GARD:0020682,Rare genetic disease +GARD:0020031,GARD:0022513,GARD:0022388,,Rare developmental defect during embryogenesis +GARD:0020031,GARD:0022510,GARD:0022388,,Rare skin disease +GARD:0020031,GARD:0022531,GARD:0022388,,Rare genetic disease +GARD:0020032,GARD:0022531,GARD:0022388,,Rare genetic disease +GARD:0020032,GARD:0022513,GARD:0022388,,Rare developmental defect during embryogenesis +GARD:0020032,GARD:0022510,GARD:0022388,,Rare skin disease +GARD:0020033,GARD:0022510,GARD:0016723,,Rare skin disease +GARD:0020033,GARD:0022522,GARD:0016723,,Rare hematologic disease +GARD:0020033,GARD:0022535,GARD:0016723,,Rare neoplastic disease +GARD:0020034,GARD:0022510,GARD:0016723,,Rare skin disease +GARD:0020034,GARD:0022535,GARD:0016723,,Rare neoplastic disease +GARD:0020034,GARD:0022522,GARD:0016723,,Rare hematologic disease +GARD:0020035,GARD:0022510,GARD:0016723,,Rare skin disease +GARD:0020035,GARD:0022535,GARD:0016723,,Rare neoplastic disease +GARD:0020035,GARD:0022522,GARD:0016723,,Rare hematologic disease +GARD:0020036,GARD:0022522,GARD:0008616,,Rare hematologic disease +GARD:0020036,GARD:0022535,GARD:0008616,,Rare neoplastic disease +GARD:0020037,GARD:0022535,GARD:0008616,,Rare neoplastic disease +GARD:0020037,GARD:0022522,GARD:0008616,,Rare hematologic disease +GARD:0020038,GARD:0022516,GARD:0019849,,Rare gastroenterologic disease +GARD:0020038,GARD:0022536,GARD:0019849,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020039,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0020039,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0020040,GARD:0022513,GARD:0020056,,Rare developmental defect during embryogenesis +GARD:0020040,GARD:0022528,GARD:0020056,,Rare otorhinolaryngologic disease +GARD:0020041,GARD:0022513,GARD:0020338,GARD:0000409,Rare developmental defect during embryogenesis +GARD:0020041,GARD:0022531,GARD:0021004,GARD:0021489,Rare genetic disease +GARD:0020041,GARD:0022531,GARD:0020088,GARD:0021489,Rare genetic disease +GARD:0020041,GARD:0022524,GARD:0020088,GARD:0016586,Rare neurologic disease +GARD:0020041,GARD:0022524,GARD:0020338,GARD:0016586,Rare neurologic disease +GARD:0020041,GARD:0022524,GARD:0020338,GARD:0020982,Rare neurologic disease +GARD:0020041,GARD:0022531,GARD:0021004,GARD:0001904,Rare genetic disease +GARD:0020041,GARD:0022531,GARD:0020088,GARD:0020982,Rare genetic disease +GARD:0020041,GARD:0022531,GARD:0021004,GARD:0016586,Rare genetic disease +GARD:0020041,GARD:0022531,GARD:0021004,GARD:0018818,Rare genetic disease +GARD:0020041,GARD:0022524,GARD:0020088,GARD:0018818,Rare neurologic disease +GARD:0020041,GARD:0022531,GARD:0021004,GARD:0013032,Rare genetic disease +GARD:0020041,GARD:0022531,GARD:0020088,GARD:0000409,Rare genetic disease +GARD:0020041,GARD:0022524,GARD:0020338,GARD:0000409,Rare neurologic disease +GARD:0020041,GARD:0022513,GARD:0020338,GARD:0017299,Rare developmental defect during embryogenesis +GARD:0020041,GARD:0022524,GARD:0020338,GARD:0021489,Rare neurologic disease +GARD:0020041,GARD:0022524,GARD:0020338,GARD:0013032,Rare neurologic disease +GARD:0020041,GARD:0022513,GARD:0020338,GARD:0021489,Rare developmental defect during embryogenesis +GARD:0020041,GARD:0022513,GARD:0020338,GARD:0016586,Rare developmental defect during embryogenesis +GARD:0020041,GARD:0022513,GARD:0020338,GARD:0001904,Rare developmental defect during embryogenesis +GARD:0020041,GARD:0022524,GARD:0020338,GARD:0001904,Rare neurologic disease +GARD:0020041,GARD:0022531,GARD:0020088,GARD:0017299,Rare genetic disease +GARD:0020041,GARD:0022531,GARD:0021004,GARD:0000409,Rare genetic disease +GARD:0020041,GARD:0022524,GARD:0020338,GARD:0017299,Rare neurologic disease +GARD:0020041,GARD:0022513,GARD:0020338,GARD:0013032,Rare developmental defect during embryogenesis +GARD:0020041,GARD:0022524,GARD:0020338,GARD:0018818,Rare neurologic disease +GARD:0020041,GARD:0022513,GARD:0020338,GARD:0020982,Rare developmental defect during embryogenesis +GARD:0020041,GARD:0022524,GARD:0020088,GARD:0013032,Rare neurologic disease +GARD:0020041,GARD:0022524,GARD:0020088,GARD:0000409,Rare neurologic disease +GARD:0020041,GARD:0022524,GARD:0020088,GARD:0021489,Rare neurologic disease +GARD:0020041,GARD:0022531,GARD:0020088,GARD:0013032,Rare genetic disease +GARD:0020041,GARD:0022531,GARD:0021004,GARD:0020982,Rare genetic disease +GARD:0020041,GARD:0022531,GARD:0020088,GARD:0018818,Rare genetic disease +GARD:0020041,GARD:0022524,GARD:0020088,GARD:0001904,Rare neurologic disease +GARD:0020041,GARD:0022524,GARD:0020088,GARD:0020982,Rare neurologic disease +GARD:0020041,GARD:0022531,GARD:0021004,GARD:0017299,Rare genetic disease +GARD:0020041,GARD:0022531,GARD:0020088,GARD:0001904,Rare genetic disease +GARD:0020041,GARD:0022513,GARD:0020338,GARD:0018818,Rare developmental defect during embryogenesis +GARD:0020041,GARD:0022531,GARD:0020088,GARD:0016586,Rare genetic disease +GARD:0020041,GARD:0022524,GARD:0020088,GARD:0017299,Rare neurologic disease +GARD:0020042,GARD:0022510,GARD:0006225,,Rare skin disease +GARD:0020043,GARD:0022510,GARD:0006225,GARD:0013003,Rare skin disease +GARD:0020043,GARD:0022510,GARD:0006225,GARD:0019131,Rare skin disease +GARD:0020043,GARD:0022510,GARD:0006225,GARD:0019133,Rare skin disease +GARD:0020043,GARD:0022510,GARD:0006225,GARD:0017874,Rare skin disease +GARD:0020043,GARD:0022510,GARD:0006225,GARD:0019132,Rare skin disease +GARD:0020043,GARD:0022510,GARD:0006225,GARD:0019130,Rare skin disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0019035,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0005144,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0006043,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0018702,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0018861,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0018849,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0005728,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0003862,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0006882,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0004001,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0000027,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0019120,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0007889,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0019827,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0008692,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0004818,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0009557,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0022419,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0019171,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0005966,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0019170,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0000396,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0007881,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0020657,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0001875,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0007210,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0000943,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0007828,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0012829,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0018704,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0007515,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0021239,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0007827,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0006886,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0009546,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0009560,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0004614,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0006337,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0018862,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0021839,Rare infectious disease +GARD:0020044,GARD:0022509,GARD:0022509,GARD:0006915,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0007516,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0005494,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0018690,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0021897,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0019433,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0009534,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0019884,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0020592,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0021716,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0018903,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0022321,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0018811,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0007525,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0021822,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0009237,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0019153,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0012894,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0008208,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0021135,Rare infectious disease +GARD:0020045,GARD:0022509,GARD:0022509,GARD:0018687,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0000207,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0001629,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0018848,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0001802,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0005878,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0007826,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0018757,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0003033,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0000809,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0006881,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0018793,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0018795,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0018708,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0009742,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0006961,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0009525,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0009687,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0000942,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0008195,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0002787,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0012650,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0006218,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0009528,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0000683,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0009285,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0002764,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0003655,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0018675,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0005250,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0000693,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0018924,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0001891,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0008194,Rare infectious disease +GARD:0020046,GARD:0022509,GARD:0022509,GARD:0000393,Rare infectious disease +GARD:0020047,GARD:0022509,GARD:0022509,GARD:0007323,Rare infectious disease +GARD:0020047,GARD:0022509,GARD:0022509,GARD:0021880,Rare infectious disease +GARD:0020047,GARD:0022509,GARD:0022509,GARD:0018692,Rare infectious disease +GARD:0020047,GARD:0022509,GARD:0022509,GARD:0007692,Rare infectious disease +GARD:0020047,GARD:0022509,GARD:0022509,GARD:0005856,Rare infectious disease +GARD:0020047,GARD:0022509,GARD:0022509,GARD:0004386,Rare infectious disease +GARD:0020047,GARD:0022509,GARD:0022509,GARD:0020570,Rare infectious disease +GARD:0020047,GARD:0022509,GARD:0022509,GARD:0001319,Rare infectious disease +GARD:0020047,GARD:0022509,GARD:0022509,GARD:0021631,Rare infectious disease +GARD:0020047,GARD:0022509,GARD:0022509,GARD:0003862,Rare infectious disease +GARD:0020047,GARD:0022509,GARD:0022509,GARD:0010224,Rare infectious disease +GARD:0020048,GARD:0022536,GARD:0021119,GARD:0021041,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020048,GARD:0022531,GARD:0021119,GARD:0005622,Rare genetic disease +GARD:0020048,GARD:0022506,GARD:0021119,GARD:0017173,Rare hepatic disease +GARD:0020048,GARD:0022531,GARD:0018949,GARD:0005622,Rare genetic disease +GARD:0020048,GARD:0022508,GARD:0018949,GARD:0017173,Rare inborn errors of metabolism +GARD:0020048,GARD:0022506,GARD:0021119,GARD:0005622,Rare hepatic disease +GARD:0020048,GARD:0022531,GARD:0021119,GARD:0021041,Rare genetic disease +GARD:0020048,GARD:0022531,GARD:0018949,GARD:0017173,Rare genetic disease +GARD:0020048,GARD:0022531,GARD:0018949,GARD:0021041,Rare genetic disease +GARD:0020048,GARD:0022536,GARD:0021119,GARD:0017173,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020048,GARD:0022536,GARD:0021119,GARD:0005622,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020048,GARD:0022531,GARD:0021119,GARD:0017173,Rare genetic disease +GARD:0020048,GARD:0022531,GARD:0021119,GARD:0021996,Rare genetic disease +GARD:0020048,GARD:0022506,GARD:0021119,GARD:0021041,Rare hepatic disease +GARD:0020048,GARD:0022508,GARD:0018949,GARD:0021996,Rare inborn errors of metabolism +GARD:0020048,GARD:0022531,GARD:0018949,GARD:0021996,Rare genetic disease +GARD:0020048,GARD:0022536,GARD:0021119,GARD:0021996,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020048,GARD:0022508,GARD:0018949,GARD:0005622,Rare inborn errors of metabolism +GARD:0020048,GARD:0022508,GARD:0018949,GARD:0021041,Rare inborn errors of metabolism +GARD:0020048,GARD:0022506,GARD:0021119,GARD:0021996,Rare hepatic disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0022443,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0012924,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0021138,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0008528,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0009578,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0000220,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0021853,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0022449,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0022448,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0009804,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0019093,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0005824,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0009635,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0000365,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0016913,Rare gynecologic or obstetric disease +GARD:0020049,GARD:0022514,GARD:0022514,GARD:0021823,Rare gynecologic or obstetric disease +GARD:0020050,GARD:0022531,GARD:0019437,,Rare genetic disease +GARD:0020050,GARD:0022524,GARD:0019437,,Rare neurologic disease +GARD:0020051,GARD:0022524,GARD:0019357,,Rare neurologic disease +GARD:0020051,GARD:0022536,GARD:0022536,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020052,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0020052,GARD:0022531,GARD:0018991,,Rare genetic disease +GARD:0020053,GARD:0022520,GARD:0022086,,Rare ophthalmic disorder +GARD:0020054,GARD:0022531,GARD:0020233,,Rare genetic disease +GARD:0020054,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0020054,GARD:0022529,GARD:0020233,,Rare infertility +GARD:0020054,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0020054,GARD:0022521,GARD:0020233,,Rare endocrine disease +GARD:0020054,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0020055,GARD:0022526,GARD:0022526,GARD:0016908,Rare odontologic disease +GARD:0020055,GARD:0022526,GARD:0022526,GARD:0018872,Rare odontologic disease +GARD:0020055,GARD:0022526,GARD:0022526,GARD:0005818,Rare odontologic disease +GARD:0020055,GARD:0022526,GARD:0022526,GARD:0005791,Rare odontologic disease +GARD:0020055,GARD:0022526,GARD:0022526,GARD:0002419,Rare odontologic disease +GARD:0020055,GARD:0022526,GARD:0022526,GARD:0020094,Rare odontologic disease +GARD:0020055,GARD:0022526,GARD:0022526,GARD:0016582,Rare odontologic disease +GARD:0020055,GARD:0022526,GARD:0022526,GARD:0017692,Rare odontologic disease +GARD:0020055,GARD:0022526,GARD:0022526,GARD:0010173,Rare odontologic disease +GARD:0020055,GARD:0022526,GARD:0022526,GARD:0017761,Rare odontologic disease +GARD:0020055,GARD:0022526,GARD:0022526,GARD:0019036,Rare odontologic disease +GARD:0020055,GARD:0022526,GARD:0022526,GARD:0000701,Rare odontologic disease +GARD:0020056,GARD:0022513,GARD:0019350,GARD:0022045,Rare developmental defect during embryogenesis +GARD:0020056,GARD:0022513,GARD:0019350,GARD:0022044,Rare developmental defect during embryogenesis +GARD:0020056,GARD:0022528,GARD:0019350,GARD:0020040,Rare otorhinolaryngologic disease +GARD:0020056,GARD:0022528,GARD:0019350,GARD:0022044,Rare otorhinolaryngologic disease +GARD:0020056,GARD:0022528,GARD:0019350,GARD:0022045,Rare otorhinolaryngologic disease +GARD:0020056,GARD:0022513,GARD:0019350,GARD:0020040,Rare developmental defect during embryogenesis +GARD:0020057,GARD:0022536,GARD:0012762,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020057,GARD:0022522,GARD:0012762,,Rare hematologic disease +GARD:0020057,GARD:0022535,GARD:0012762,,Rare neoplastic disease +GARD:0020057,GARD:0022533,GARD:0022139,,Rare disorder due to toxic effects +GARD:0020058,GARD:0022536,GARD:0020234,GARD:0007337,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020058,GARD:0022536,GARD:0020234,GARD:0008618,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020058,GARD:0022522,GARD:0020234,GARD:0019465,Rare hematologic disease +GARD:0020058,GARD:0022522,GARD:0020234,GARD:0007337,Rare hematologic disease +GARD:0020058,GARD:0022522,GARD:0020234,GARD:0008618,Rare hematologic disease +GARD:0020058,GARD:0022536,GARD:0020234,GARD:0005836,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020058,GARD:0022536,GARD:0020234,GARD:0019465,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020058,GARD:0022522,GARD:0020234,GARD:0005836,Rare hematologic disease +GARD:0020059,GARD:0022531,GARD:0022531,GARD:0020061,Rare genetic disease +GARD:0020059,GARD:0022531,GARD:0022531,GARD:0020060,Rare genetic disease +GARD:0020059,GARD:0022531,GARD:0022531,GARD:0020062,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0017852,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0019841,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0019845,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0021578,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0021945,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0019844,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0022203,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0012281,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0007873,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0017857,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0019850,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0021946,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0019846,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0021547,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0017355,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0021548,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0022400,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0000753,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0015003,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0022395,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0021546,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0010916,Rare genetic disease +GARD:0020060,GARD:0022531,GARD:0020059,GARD:0019842,Rare genetic disease +GARD:0020061,GARD:0022531,GARD:0020059,GARD:0003102,Rare genetic disease +GARD:0020061,GARD:0022531,GARD:0020059,GARD:0003303,Rare genetic disease +GARD:0020061,GARD:0022531,GARD:0020059,GARD:0017664,Rare genetic disease +GARD:0020061,GARD:0022531,GARD:0020059,GARD:0002438,Rare genetic disease +GARD:0020061,GARD:0022531,GARD:0020059,GARD:0010900,Rare genetic disease +GARD:0020062,GARD:0022531,GARD:0020059,GARD:0004206,Rare genetic disease +GARD:0020062,GARD:0022531,GARD:0020059,GARD:0004863,Rare genetic disease +GARD:0020062,GARD:0022531,GARD:0020059,GARD:0017095,Rare genetic disease +GARD:0020062,GARD:0022531,GARD:0020059,GARD:0006233,Rare genetic disease +GARD:0020062,GARD:0022531,GARD:0020059,GARD:0021316,Rare genetic disease +GARD:0020062,GARD:0022531,GARD:0020059,GARD:0006632,Rare genetic disease +GARD:0020062,GARD:0022531,GARD:0020059,GARD:0017791,Rare genetic disease +GARD:0020063,GARD:0022536,GARD:0022061,GARD:0020252,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020063,GARD:0022532,GARD:0019029,GARD:0020251,Rare urogenital disease +GARD:0020063,GARD:0022532,GARD:0019029,GARD:0020253,Rare urogenital disease +GARD:0020063,GARD:0022532,GARD:0019029,GARD:0020252,Rare urogenital disease +GARD:0020063,GARD:0022536,GARD:0022061,GARD:0020253,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020063,GARD:0022513,GARD:0019029,GARD:0020251,Rare developmental defect during embryogenesis +GARD:0020063,GARD:0022536,GARD:0022061,GARD:0020251,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020063,GARD:0022513,GARD:0019029,GARD:0020253,Rare developmental defect during embryogenesis +GARD:0020063,GARD:0022513,GARD:0019029,GARD:0020252,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0003769,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0011985,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0007831,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0017743,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0005230,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0000029,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0004470,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0018773,Rare genetic disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0022399,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0007831,Rare urogenital disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0005676,Rare genetic disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0004969,Rare genetic disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0004940,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0005124,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0005679,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0002928,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0005430,Rare genetic disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0011985,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0002642,Rare urogenital disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0004470,Rare urogenital disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0022284,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0005430,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0004470,Rare genetic disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0011985,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0000955,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0002908,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0018773,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0004303,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0001910,Rare urogenital disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0004940,Rare urogenital disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0000360,Rare genetic disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0004775,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0021753,Rare urogenital disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0000193,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0005430,Rare urogenital disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0017743,Rare urogenital disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0022397,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0004303,Rare urogenital disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0000258,Rare urogenital disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0022010,Rare urogenital disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0000287,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0003943,Rare urogenital disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0005677,Rare genetic disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0002642,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0021862,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0002930,Rare genetic disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0022010,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0003769,Rare urogenital disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0005124,Rare genetic disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0022010,Rare genetic disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0005679,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0022397,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0005124,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0004940,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0002928,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0004969,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0002908,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0005230,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0002908,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0012312,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0000258,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0001910,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0022284,Rare genetic disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0021862,Rare genetic disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0000193,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0003943,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0004775,Rare urogenital disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0004303,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0012312,Rare urogenital disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0003769,Rare genetic disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0005676,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0017743,Rare genetic disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0000029,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0005679,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0005677,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0002930,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0021862,Rare urogenital disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0002642,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0000287,Rare urogenital disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0017922,Rare genetic disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0001910,Rare genetic disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0004775,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0004969,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0021753,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0000193,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0000360,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0005230,Rare urogenital disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0000360,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0018773,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0002928,Rare genetic disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0000029,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0022399,Rare urogenital disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0012312,Rare genetic disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0022284,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0022399,Rare genetic disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0021753,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0017922,Rare urogenital disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0000955,Rare urogenital disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0005676,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0022397,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0003943,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0000955,Rare genetic disease +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0005677,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0000287,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022532,GARD:0019029,GARD:0002930,Rare urogenital disease +GARD:0020064,GARD:0022513,GARD:0019029,GARD:0017922,Rare developmental defect during embryogenesis +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0007831,Rare genetic disease +GARD:0020064,GARD:0022531,GARD:0020009,GARD:0000258,Rare genetic disease +GARD:0020065,GARD:0022509,GARD:0019723,,Rare infectious disease +GARD:0020066,GARD:0022509,GARD:0018924,,Rare infectious disease +GARD:0020067,GARD:0022531,GARD:0003947,GARD:0009870,Rare genetic disease +GARD:0020067,GARD:0022521,GARD:0003947,GARD:0002818,Rare endocrine disease +GARD:0020067,GARD:0022513,GARD:0003947,GARD:0021444,Rare developmental defect during embryogenesis +GARD:0020067,GARD:0022521,GARD:0003947,GARD:0009870,Rare endocrine disease +GARD:0020067,GARD:0022531,GARD:0003947,GARD:0009932,Rare genetic disease +GARD:0020067,GARD:0022513,GARD:0003947,GARD:0021054,Rare developmental defect during embryogenesis +GARD:0020067,GARD:0022513,GARD:0003947,GARD:0020903,Rare developmental defect during embryogenesis +GARD:0020067,GARD:0022531,GARD:0003947,GARD:0020903,Rare genetic disease +GARD:0020067,GARD:0022513,GARD:0003947,GARD:0009931,Rare developmental defect during embryogenesis +GARD:0020067,GARD:0022513,GARD:0003947,GARD:0017284,Rare developmental defect during embryogenesis +GARD:0020067,GARD:0022531,GARD:0003947,GARD:0021444,Rare genetic disease +GARD:0020067,GARD:0022531,GARD:0003947,GARD:0017284,Rare genetic disease +GARD:0020067,GARD:0022521,GARD:0003947,GARD:0017283,Rare endocrine disease +GARD:0020067,GARD:0022521,GARD:0003947,GARD:0017284,Rare endocrine disease +GARD:0020067,GARD:0022531,GARD:0003947,GARD:0021054,Rare genetic disease +GARD:0020067,GARD:0022531,GARD:0003947,GARD:0002818,Rare genetic disease +GARD:0020067,GARD:0022521,GARD:0003947,GARD:0021054,Rare endocrine disease +GARD:0020067,GARD:0022513,GARD:0003947,GARD:0017283,Rare developmental defect during embryogenesis +GARD:0020067,GARD:0022521,GARD:0003947,GARD:0020903,Rare endocrine disease +GARD:0020067,GARD:0022513,GARD:0003947,GARD:0009870,Rare developmental defect during embryogenesis +GARD:0020067,GARD:0022521,GARD:0003947,GARD:0009931,Rare endocrine disease +GARD:0020067,GARD:0022531,GARD:0003947,GARD:0009931,Rare genetic disease +GARD:0020067,GARD:0022513,GARD:0003947,GARD:0002818,Rare developmental defect during embryogenesis +GARD:0020067,GARD:0022531,GARD:0003947,GARD:0017283,Rare genetic disease +GARD:0020067,GARD:0022521,GARD:0003947,GARD:0021444,Rare endocrine disease +GARD:0020067,GARD:0022513,GARD:0003947,GARD:0009932,Rare developmental defect during embryogenesis +GARD:0020067,GARD:0022521,GARD:0003947,GARD:0009932,Rare endocrine disease +GARD:0020068,GARD:0022531,GARD:0021055,GARD:0016727,Rare genetic disease +GARD:0020068,GARD:0022513,GARD:0021055,GARD:0016727,Rare developmental defect during embryogenesis +GARD:0020068,GARD:0022521,GARD:0021055,GARD:0016727,Rare endocrine disease +GARD:0020068,GARD:0022513,GARD:0021055,GARD:0016726,Rare developmental defect during embryogenesis +GARD:0020068,GARD:0022531,GARD:0021055,GARD:0016726,Rare genetic disease +GARD:0020068,GARD:0022521,GARD:0021055,GARD:0016726,Rare endocrine disease +GARD:0020069,GARD:0022535,GARD:0020259,,Rare neoplastic disease +GARD:0020069,GARD:0022531,GARD:0020259,,Rare genetic disease +GARD:0020069,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0020070,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0020070,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0020070,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0020071,GARD:0022524,GARD:0020076,GARD:0020072,Rare neurologic disease +GARD:0020071,GARD:0022531,GARD:0020076,GARD:0020073,Rare genetic disease +GARD:0020071,GARD:0022524,GARD:0020076,GARD:0020073,Rare neurologic disease +GARD:0020071,GARD:0022531,GARD:0020076,GARD:0020072,Rare genetic disease +GARD:0020072,GARD:0022531,GARD:0020071,,Rare genetic disease +GARD:0020072,GARD:0022524,GARD:0020071,,Rare neurologic disease +GARD:0020073,GARD:0022531,GARD:0020071,,Rare genetic disease +GARD:0020073,GARD:0022524,GARD:0020071,,Rare neurologic disease +GARD:0020074,GARD:0022524,GARD:0020076,,Rare neurologic disease +GARD:0020074,GARD:0022531,GARD:0020076,,Rare genetic disease +GARD:0020075,GARD:0022531,GARD:0020076,,Rare genetic disease +GARD:0020075,GARD:0022524,GARD:0020076,,Rare neurologic disease +GARD:0020076,GARD:0022524,GARD:0019436,GARD:0001518,Rare neurologic disease +GARD:0020076,GARD:0022524,GARD:0019436,GARD:0020074,Rare neurologic disease +GARD:0020076,GARD:0022531,GARD:0019436,GARD:0010768,Rare genetic disease +GARD:0020076,GARD:0022531,GARD:0019436,GARD:0000857,Rare genetic disease +GARD:0020076,GARD:0022531,GARD:0019436,GARD:0020075,Rare genetic disease +GARD:0020076,GARD:0022531,GARD:0019436,GARD:0020071,Rare genetic disease +GARD:0020076,GARD:0022524,GARD:0019436,GARD:0008553,Rare neurologic disease +GARD:0020076,GARD:0022524,GARD:0019436,GARD:0020071,Rare neurologic disease +GARD:0020076,GARD:0022531,GARD:0019436,GARD:0020074,Rare genetic disease +GARD:0020076,GARD:0022531,GARD:0019436,GARD:0001518,Rare genetic disease +GARD:0020076,GARD:0022524,GARD:0019436,GARD:0010768,Rare neurologic disease +GARD:0020076,GARD:0022524,GARD:0019436,GARD:0020075,Rare neurologic disease +GARD:0020076,GARD:0022524,GARD:0019436,GARD:0000857,Rare neurologic disease +GARD:0020076,GARD:0022531,GARD:0019436,GARD:0008553,Rare genetic disease +GARD:0020077,GARD:0022524,GARD:0018688,,Rare neurologic disease +GARD:0020078,GARD:0022524,GARD:0018688,,Rare neurologic disease +GARD:0020079,GARD:0022524,GARD:0018688,,Rare neurologic disease +GARD:0020080,GARD:0022524,GARD:0018688,,Rare neurologic disease +GARD:0020081,GARD:0022524,GARD:0018688,,Rare neurologic disease +GARD:0020082,GARD:0022524,GARD:0018688,,Rare neurologic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0017000,Rare neurologic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0016911,Rare genetic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0017000,Rare genetic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0019438,Rare genetic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0019436,Rare neurologic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0019435,Rare genetic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0000606,Rare neurologic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0019435,Rare neurologic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0003002,Rare neurologic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0000358,Rare neurologic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0022404,Rare neurologic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0000358,Rare genetic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0002279,Rare neurologic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0016701,Rare genetic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0016997,Rare genetic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0019437,Rare genetic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0016701,Rare neurologic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0019436,Rare genetic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0000106,Rare genetic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0000606,Rare genetic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0022404,Rare genetic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0004264,Rare neurologic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0019724,Rare neurologic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0016997,Rare neurologic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0002279,Rare genetic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0002168,Rare neurologic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0019438,Rare neurologic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0002168,Rare genetic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0016911,Rare neurologic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0019724,Rare genetic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0019437,Rare neurologic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0004264,Rare genetic disease +GARD:0020083,GARD:0022531,GARD:0020284,GARD:0003002,Rare genetic disease +GARD:0020083,GARD:0022524,GARD:0019814,GARD:0000106,Rare neurologic disease +GARD:0020084,GARD:0022524,GARD:0019814,GARD:0006778,Rare neurologic disease +GARD:0020084,GARD:0022531,GARD:0020284,GARD:0007706,Rare genetic disease +GARD:0020084,GARD:0022531,GARD:0020284,GARD:0016630,Rare genetic disease +GARD:0020084,GARD:0022531,GARD:0020284,GARD:0006778,Rare genetic disease +GARD:0020084,GARD:0022524,GARD:0019814,GARD:0007475,Rare neurologic disease +GARD:0020084,GARD:0022524,GARD:0019814,GARD:0007706,Rare neurologic disease +GARD:0020084,GARD:0022524,GARD:0019814,GARD:0007866,Rare neurologic disease +GARD:0020084,GARD:0022531,GARD:0020284,GARD:0007866,Rare genetic disease +GARD:0020084,GARD:0022524,GARD:0019814,GARD:0007830,Rare neurologic disease +GARD:0020084,GARD:0022531,GARD:0020284,GARD:0007475,Rare genetic disease +GARD:0020084,GARD:0022524,GARD:0019814,GARD:0016630,Rare neurologic disease +GARD:0020084,GARD:0022531,GARD:0020284,GARD:0007830,Rare genetic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0006072,Rare neurologic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0001334,Rare neurologic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0012766,Rare genetic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0016846,Rare neurologic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0010296,Rare genetic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0005153,Rare neurologic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0006082,Rare genetic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0010296,Rare neurologic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0007896,Rare genetic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0006464,Rare neurologic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0006464,Rare genetic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0022009,Rare neurologic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0008421,Rare genetic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0022009,Rare genetic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0012166,Rare genetic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0016846,Rare genetic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0003669,Rare genetic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0010998,Rare genetic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0005810,Rare neurologic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0005810,Rare genetic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0006072,Rare genetic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0017248,Rare neurologic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0003669,Rare neurologic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0006082,Rare neurologic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0010998,Rare neurologic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0001334,Rare genetic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0012166,Rare neurologic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0005153,Rare genetic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0007896,Rare neurologic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0008421,Rare neurologic disease +GARD:0020085,GARD:0022531,GARD:0020284,GARD:0017248,Rare genetic disease +GARD:0020085,GARD:0022524,GARD:0019814,GARD:0012766,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0022351,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0016641,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0017942,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0017097,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0002877,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0017687,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0017988,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0020241,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0016584,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0017521,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0005696,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0017521,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0021719,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0004694,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0017103,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0017942,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0013221,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0012913,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0016748,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0004010,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0020242,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0022266,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0004372,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0012173,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0021522,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0017893,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0019783,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0021619,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0017097,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0016748,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0013060,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0002877,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0016641,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0016744,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0012825,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0022369,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0017816,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0022266,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0017911,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0021619,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0021522,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0004010,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0017103,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0017988,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0021719,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0017522,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0020242,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0000936,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0022369,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0009673,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0017718,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0017930,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0020241,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0017718,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0018001,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0013060,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0017687,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0005696,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0016584,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0022351,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0012913,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0012173,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0017816,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0012825,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0017911,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0018001,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0016744,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0017522,Rare neurologic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0013221,Rare neurologic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0004694,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0019783,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0000936,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0009673,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0004372,Rare genetic disease +GARD:0020086,GARD:0022531,GARD:0020284,GARD:0017930,Rare genetic disease +GARD:0020086,GARD:0022524,GARD:0019814,GARD:0017893,Rare neurologic disease +GARD:0020087,GARD:0022524,GARD:0019814,GARD:0001518,Rare neurologic disease +GARD:0020087,GARD:0022524,GARD:0019814,GARD:0002173,Rare neurologic disease +GARD:0020087,GARD:0022531,GARD:0020284,GARD:0001518,Rare genetic disease +GARD:0020087,GARD:0022531,GARD:0020284,GARD:0000857,Rare genetic disease +GARD:0020087,GARD:0022531,GARD:0020284,GARD:0002173,Rare genetic disease +GARD:0020087,GARD:0022524,GARD:0019814,GARD:0000857,Rare neurologic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0021522,Rare neurologic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0017672,Rare genetic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0021522,Rare genetic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0020687,Rare neurologic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0021707,Rare genetic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0005764,Rare neurologic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0002637,Rare genetic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0009947,Rare genetic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0020687,Rare genetic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0018840,Rare genetic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0020041,Rare genetic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0007430,Rare neurologic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0010572,Rare genetic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0018840,Rare neurologic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0006665,Rare genetic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0017381,Rare genetic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0000166,Rare neurologic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0010977,Rare neurologic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0002637,Rare neurologic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0019084,Rare neurologic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0020041,Rare neurologic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0012291,Rare neurologic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0017672,Rare neurologic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0006665,Rare neurologic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0009947,Rare neurologic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0000166,Rare genetic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0012291,Rare genetic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0007430,Rare genetic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0021707,Rare neurologic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0005764,Rare genetic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0010977,Rare genetic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0010572,Rare neurologic disease +GARD:0020088,GARD:0022531,GARD:0020284,GARD:0019084,Rare genetic disease +GARD:0020088,GARD:0022524,GARD:0019814,GARD:0017381,Rare neurologic disease +GARD:0020089,GARD:0022524,GARD:0019814,GARD:0020550,Rare neurologic disease +GARD:0020089,GARD:0022524,GARD:0019814,GARD:0020553,Rare neurologic disease +GARD:0020089,GARD:0022524,GARD:0019814,GARD:0020554,Rare neurologic disease +GARD:0020089,GARD:0022531,GARD:0020284,GARD:0020550,Rare genetic disease +GARD:0020089,GARD:0022531,GARD:0020284,GARD:0020558,Rare genetic disease +GARD:0020089,GARD:0022524,GARD:0019814,GARD:0020559,Rare neurologic disease +GARD:0020089,GARD:0022524,GARD:0019814,GARD:0020557,Rare neurologic disease +GARD:0020089,GARD:0022524,GARD:0019814,GARD:0020551,Rare neurologic disease +GARD:0020089,GARD:0022531,GARD:0020284,GARD:0021604,Rare genetic disease +GARD:0020089,GARD:0022524,GARD:0019814,GARD:0020558,Rare neurologic disease +GARD:0020089,GARD:0022531,GARD:0020284,GARD:0020559,Rare genetic disease +GARD:0020089,GARD:0022531,GARD:0020284,GARD:0020554,Rare genetic disease +GARD:0020089,GARD:0022531,GARD:0020284,GARD:0020552,Rare genetic disease +GARD:0020089,GARD:0022524,GARD:0019814,GARD:0020552,Rare neurologic disease +GARD:0020089,GARD:0022524,GARD:0019814,GARD:0021604,Rare neurologic disease +GARD:0020089,GARD:0022531,GARD:0020284,GARD:0020551,Rare genetic disease +GARD:0020089,GARD:0022531,GARD:0020284,GARD:0020557,Rare genetic disease +GARD:0020089,GARD:0022531,GARD:0020284,GARD:0020553,Rare genetic disease +GARD:0020090,GARD:0022524,GARD:0019814,GARD:0018752,Rare neurologic disease +GARD:0020090,GARD:0022524,GARD:0019814,GARD:0022497,Rare neurologic disease +GARD:0020090,GARD:0022524,GARD:0019814,GARD:0007607,Rare neurologic disease +GARD:0020090,GARD:0022524,GARD:0019814,GARD:0002166,Rare neurologic disease +GARD:0020090,GARD:0022524,GARD:0019814,GARD:0009766,Rare neurologic disease +GARD:0020090,GARD:0022524,GARD:0019814,GARD:0022498,Rare neurologic disease +GARD:0020090,GARD:0022524,GARD:0019814,GARD:0021553,Rare neurologic disease +GARD:0020090,GARD:0022524,GARD:0019814,GARD:0019219,Rare neurologic disease +GARD:0020090,GARD:0022524,GARD:0019814,GARD:0007338,Rare neurologic disease +GARD:0020090,GARD:0022524,GARD:0019814,GARD:0000848,Rare neurologic disease +GARD:0020090,GARD:0022524,GARD:0019814,GARD:0007880,Rare neurologic disease +GARD:0020091,GARD:0022531,GARD:0020284,GARD:0000676,Rare genetic disease +GARD:0020091,GARD:0022524,GARD:0019814,GARD:0000676,Rare neurologic disease +GARD:0020091,GARD:0022524,GARD:0019814,GARD:0007706,Rare neurologic disease +GARD:0020091,GARD:0022531,GARD:0020284,GARD:0007706,Rare genetic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0018708,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0010925,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0007888,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0019043,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0007708,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0006840,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0009959,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0018849,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0006797,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0019041,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0018809,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0006332,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0019042,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0001480,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0008639,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0005216,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0006649,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0019040,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0004744,Rare neurologic disease +GARD:0020092,GARD:0022524,GARD:0019814,GARD:0010821,Rare neurologic disease +GARD:0020093,GARD:0022522,GARD:0020672,GARD:0006405,Rare hematologic disease +GARD:0020093,GARD:0022522,GARD:0020672,GARD:0000475,Rare hematologic disease +GARD:0020093,GARD:0022522,GARD:0020672,GARD:0022411,Rare hematologic disease +GARD:0020093,GARD:0022522,GARD:0020672,GARD:0005573,Rare hematologic disease +GARD:0020093,GARD:0022522,GARD:0020672,GARD:0022407,Rare hematologic disease +GARD:0020093,GARD:0022522,GARD:0020672,GARD:0022408,Rare hematologic disease +GARD:0020093,GARD:0022522,GARD:0020672,GARD:0022410,Rare hematologic disease +GARD:0020093,GARD:0022522,GARD:0020672,GARD:0022409,Rare hematologic disease +GARD:0020093,GARD:0022522,GARD:0020672,GARD:0022412,Rare hematologic disease +GARD:0020094,GARD:0022526,GARD:0020055,GARD:0006258,Rare odontologic disease +GARD:0020094,GARD:0022531,GARD:0021748,GARD:0006258,Rare genetic disease +GARD:0020094,GARD:0022526,GARD:0020055,GARD:0016575,Rare odontologic disease +GARD:0020094,GARD:0022531,GARD:0021748,GARD:0016575,Rare genetic disease +GARD:0020095,GARD:0022526,GARD:0019388,GARD:0002088,Rare odontologic disease +GARD:0020095,GARD:0022531,GARD:0018936,GARD:0008696,Rare genetic disease +GARD:0020095,GARD:0022531,GARD:0018936,GARD:0001029,Rare genetic disease +GARD:0020095,GARD:0022526,GARD:0019388,GARD:0008696,Rare odontologic disease +GARD:0020095,GARD:0022531,GARD:0018936,GARD:0008507,Rare genetic disease +GARD:0020095,GARD:0022531,GARD:0018936,GARD:0008695,Rare genetic disease +GARD:0020095,GARD:0022531,GARD:0018936,GARD:0002088,Rare genetic disease +GARD:0020095,GARD:0022526,GARD:0019388,GARD:0008695,Rare odontologic disease +GARD:0020095,GARD:0022526,GARD:0019388,GARD:0008507,Rare odontologic disease +GARD:0020095,GARD:0022526,GARD:0019388,GARD:0001029,Rare odontologic disease +GARD:0020096,GARD:0022515,GARD:0022515,GARD:0020518,Rare cardiac disease +GARD:0020096,GARD:0022515,GARD:0022515,GARD:0020531,Rare cardiac disease +GARD:0020096,GARD:0022515,GARD:0022515,GARD:0020534,Rare cardiac disease +GARD:0020096,GARD:0022515,GARD:0022515,GARD:0005847,Rare cardiac disease +GARD:0020096,GARD:0022515,GARD:0022515,GARD:0021494,Rare cardiac disease +GARD:0020096,GARD:0022515,GARD:0022515,GARD:0000221,Rare cardiac disease +GARD:0020097,GARD:0022535,GARD:0019401,GARD:0000139,Rare neoplastic disease +GARD:0020097,GARD:0022535,GARD:0019401,GARD:0018710,Rare neoplastic disease +GARD:0020097,GARD:0022535,GARD:0019401,GARD:0017448,Rare neoplastic disease +GARD:0020097,GARD:0022535,GARD:0019401,GARD:0001119,Rare neoplastic disease +GARD:0020097,GARD:0022535,GARD:0019401,GARD:0018709,Rare neoplastic disease +GARD:0020097,GARD:0022515,GARD:0022515,GARD:0018710,Rare cardiac disease +GARD:0020097,GARD:0022515,GARD:0022515,GARD:0017448,Rare cardiac disease +GARD:0020097,GARD:0022515,GARD:0022515,GARD:0018709,Rare cardiac disease +GARD:0020097,GARD:0022515,GARD:0022515,GARD:0001119,Rare cardiac disease +GARD:0020097,GARD:0022515,GARD:0022515,GARD:0000139,Rare cardiac disease +GARD:0020098,GARD:0022531,GARD:0019191,,Rare genetic disease +GARD:0020098,GARD:0022513,GARD:0019191,,Rare developmental defect during embryogenesis +GARD:0020098,GARD:0022511,GARD:0019191,,Rare bone disease +GARD:0020099,GARD:0022531,GARD:0018915,GARD:0020336,Rare genetic disease +GARD:0020099,GARD:0022531,GARD:0018915,GARD:0012173,Rare genetic disease +GARD:0020099,GARD:0022524,GARD:0019389,GARD:0010248,Rare neurologic disease +GARD:0020099,GARD:0022531,GARD:0018915,GARD:0010248,Rare genetic disease +GARD:0020099,GARD:0022524,GARD:0019389,GARD:0012173,Rare neurologic disease +GARD:0020099,GARD:0022524,GARD:0019389,GARD:0012825,Rare neurologic disease +GARD:0020099,GARD:0022524,GARD:0019389,GARD:0004694,Rare neurologic disease +GARD:0020099,GARD:0022524,GARD:0019389,GARD:0022416,Rare neurologic disease +GARD:0020099,GARD:0022531,GARD:0018915,GARD:0022416,Rare genetic disease +GARD:0020099,GARD:0022524,GARD:0019389,GARD:0005696,Rare neurologic disease +GARD:0020099,GARD:0022524,GARD:0019389,GARD:0006040,Rare neurologic disease +GARD:0020099,GARD:0022531,GARD:0018915,GARD:0012825,Rare genetic disease +GARD:0020099,GARD:0022531,GARD:0018915,GARD:0004694,Rare genetic disease +GARD:0020099,GARD:0022531,GARD:0018915,GARD:0006040,Rare genetic disease +GARD:0020099,GARD:0022531,GARD:0018915,GARD:0005696,Rare genetic disease +GARD:0020099,GARD:0022524,GARD:0019389,GARD:0020336,Rare neurologic disease +GARD:0020100,GARD:0022535,GARD:0019401,GARD:0012843,Rare neoplastic disease +GARD:0020100,GARD:0022534,GARD:0022534,GARD:0020101,Rare abdominal surgical disease +GARD:0020100,GARD:0022534,GARD:0022534,GARD:0007488,Rare abdominal surgical disease +GARD:0020100,GARD:0022535,GARD:0019401,GARD:0020101,Rare neoplastic disease +GARD:0020100,GARD:0022534,GARD:0022534,GARD:0012843,Rare abdominal surgical disease +GARD:0020100,GARD:0022535,GARD:0019401,GARD:0007488,Rare neoplastic disease +GARD:0020101,GARD:0022535,GARD:0020100,GARD:0006265,Rare neoplastic disease +GARD:0020101,GARD:0022535,GARD:0020100,GARD:0010777,Rare neoplastic disease +GARD:0020101,GARD:0022535,GARD:0020100,GARD:0020103,Rare neoplastic disease +GARD:0020101,GARD:0022534,GARD:0020100,GARD:0006265,Rare abdominal surgical disease +GARD:0020101,GARD:0022534,GARD:0020100,GARD:0020103,Rare abdominal surgical disease +GARD:0020101,GARD:0022536,GARD:0022062,GARD:0020102,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020101,GARD:0022534,GARD:0020100,GARD:0020102,Rare abdominal surgical disease +GARD:0020101,GARD:0022536,GARD:0022062,GARD:0010777,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020101,GARD:0022536,GARD:0022062,GARD:0006265,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020101,GARD:0022534,GARD:0020100,GARD:0010777,Rare abdominal surgical disease +GARD:0020101,GARD:0022535,GARD:0020100,GARD:0020102,Rare neoplastic disease +GARD:0020101,GARD:0022536,GARD:0022062,GARD:0020103,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020102,GARD:0022534,GARD:0020101,,Rare abdominal surgical disease +GARD:0020102,GARD:0022536,GARD:0020101,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020102,GARD:0022535,GARD:0020101,,Rare neoplastic disease +GARD:0020103,GARD:0022534,GARD:0020101,,Rare abdominal surgical disease +GARD:0020103,GARD:0022535,GARD:0020101,,Rare neoplastic disease +GARD:0020103,GARD:0022536,GARD:0020101,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020104,GARD:0022535,GARD:0009319,,Rare neoplastic disease +GARD:0020104,GARD:0022536,GARD:0009319,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020104,GARD:0022522,GARD:0009319,,Rare hematologic disease +GARD:0020105,GARD:0022522,GARD:0020130,GARD:0020106,Rare hematologic disease +GARD:0020105,GARD:0022522,GARD:0020130,GARD:0020107,Rare hematologic disease +GARD:0020105,GARD:0022536,GARD:0020130,GARD:0017043,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020105,GARD:0022535,GARD:0020130,GARD:0017043,Rare neoplastic disease +GARD:0020105,GARD:0022536,GARD:0020130,GARD:0022355,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020105,GARD:0022536,GARD:0020130,GARD:0020107,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020105,GARD:0022522,GARD:0020130,GARD:0017043,Rare hematologic disease +GARD:0020105,GARD:0022536,GARD:0020130,GARD:0020106,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020105,GARD:0022535,GARD:0020130,GARD:0020106,Rare neoplastic disease +GARD:0020105,GARD:0022535,GARD:0020130,GARD:0020107,Rare neoplastic disease +GARD:0020105,GARD:0022535,GARD:0020130,GARD:0022355,Rare neoplastic disease +GARD:0020105,GARD:0022522,GARD:0020130,GARD:0022355,Rare hematologic disease +GARD:0020106,GARD:0022522,GARD:0020105,,Rare hematologic disease +GARD:0020106,GARD:0022536,GARD:0020105,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020106,GARD:0022535,GARD:0020105,,Rare neoplastic disease +GARD:0020107,GARD:0022522,GARD:0020105,,Rare hematologic disease +GARD:0020107,GARD:0022535,GARD:0020105,,Rare neoplastic disease +GARD:0020107,GARD:0022536,GARD:0020105,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020108,GARD:0022536,GARD:0007132,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020108,GARD:0022522,GARD:0007132,,Rare hematologic disease +GARD:0020108,GARD:0022535,GARD:0007132,,Rare neoplastic disease +GARD:0020109,GARD:0022535,GARD:0020548,,Rare neoplastic disease +GARD:0020109,GARD:0022536,GARD:0020548,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020109,GARD:0022522,GARD:0020548,,Rare hematologic disease +GARD:0020110,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0020110,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0020111,GARD:0022531,GARD:0021512,,Rare genetic disease +GARD:0020111,GARD:0022523,GARD:0021512,,Rare immune disease +GARD:0020112,GARD:0022531,GARD:0019807,,Rare genetic disease +GARD:0020112,GARD:0022523,GARD:0019807,,Rare immune disease +GARD:0020113,GARD:0022513,GARD:0019911,GARD:0000998,Rare developmental defect during embryogenesis +GARD:0020113,GARD:0022511,GARD:0019911,GARD:0003426,Rare bone disease +GARD:0020113,GARD:0022513,GARD:0019911,GARD:0003426,Rare developmental defect during embryogenesis +GARD:0020113,GARD:0022531,GARD:0019911,GARD:0003426,Rare genetic disease +GARD:0020113,GARD:0022511,GARD:0019911,GARD:0000998,Rare bone disease +GARD:0020113,GARD:0022531,GARD:0019911,GARD:0000998,Rare genetic disease +GARD:0020114,GARD:0022531,GARD:0021510,GARD:0000915,Rare genetic disease +GARD:0020114,GARD:0022536,GARD:0022063,GARD:0005862,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020114,GARD:0022531,GARD:0021510,GARD:0017941,Rare genetic disease +GARD:0020114,GARD:0022531,GARD:0021510,GARD:0002945,Rare genetic disease +GARD:0020114,GARD:0022531,GARD:0021510,GARD:0003904,Rare genetic disease +GARD:0020114,GARD:0022523,GARD:0021510,GARD:0003904,Rare immune disease +GARD:0020114,GARD:0022536,GARD:0022063,GARD:0016695,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020114,GARD:0022536,GARD:0022063,GARD:0017941,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020114,GARD:0022523,GARD:0021510,GARD:0005862,Rare immune disease +GARD:0020114,GARD:0022531,GARD:0021510,GARD:0016695,Rare genetic disease +GARD:0020114,GARD:0022536,GARD:0022063,GARD:0002945,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020114,GARD:0022523,GARD:0021510,GARD:0017941,Rare immune disease +GARD:0020114,GARD:0022523,GARD:0021510,GARD:0002945,Rare immune disease +GARD:0020114,GARD:0022523,GARD:0021510,GARD:0017701,Rare immune disease +GARD:0020114,GARD:0022523,GARD:0021510,GARD:0000915,Rare immune disease +GARD:0020114,GARD:0022523,GARD:0021510,GARD:0017184,Rare immune disease +GARD:0020114,GARD:0022531,GARD:0021510,GARD:0017701,Rare genetic disease +GARD:0020114,GARD:0022536,GARD:0022063,GARD:0017701,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020114,GARD:0022523,GARD:0021510,GARD:0016695,Rare immune disease +GARD:0020114,GARD:0022531,GARD:0021510,GARD:0005862,Rare genetic disease +GARD:0020114,GARD:0022536,GARD:0022063,GARD:0003904,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020114,GARD:0022531,GARD:0021510,GARD:0017184,Rare genetic disease +GARD:0020114,GARD:0022536,GARD:0022063,GARD:0017184,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020114,GARD:0022536,GARD:0022063,GARD:0000915,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020115,GARD:0022523,GARD:0021510,GARD:0006996,Rare immune disease +GARD:0020115,GARD:0022531,GARD:0021510,GARD:0022070,Rare genetic disease +GARD:0020115,GARD:0022523,GARD:0021510,GARD:0004984,Rare immune disease +GARD:0020115,GARD:0022523,GARD:0021510,GARD:0017139,Rare immune disease +GARD:0020115,GARD:0022531,GARD:0021510,GARD:0009163,Rare genetic disease +GARD:0020115,GARD:0022531,GARD:0021510,GARD:0017139,Rare genetic disease +GARD:0020115,GARD:0022523,GARD:0021510,GARD:0022070,Rare immune disease +GARD:0020115,GARD:0022523,GARD:0021510,GARD:0022071,Rare immune disease +GARD:0020115,GARD:0022531,GARD:0021510,GARD:0004984,Rare genetic disease +GARD:0020115,GARD:0022531,GARD:0021510,GARD:0022071,Rare genetic disease +GARD:0020115,GARD:0022523,GARD:0021510,GARD:0009163,Rare immune disease +GARD:0020115,GARD:0022531,GARD:0021510,GARD:0006996,Rare genetic disease +GARD:0020116,GARD:0022536,GARD:0022063,GARD:0010775,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020116,GARD:0022536,GARD:0022063,GARD:0017766,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020116,GARD:0022536,GARD:0022063,GARD:0009796,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020116,GARD:0022536,GARD:0022063,GARD:0022465,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020116,GARD:0022523,GARD:0020117,GARD:0010775,Rare immune disease +GARD:0020116,GARD:0022523,GARD:0020117,GARD:0009796,Rare immune disease +GARD:0020116,GARD:0022536,GARD:0022063,GARD:0017049,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020116,GARD:0022523,GARD:0020117,GARD:0004978,Rare immune disease +GARD:0020116,GARD:0022523,GARD:0020117,GARD:0001850,Rare immune disease +GARD:0020116,GARD:0022523,GARD:0020117,GARD:0008466,Rare immune disease +GARD:0020116,GARD:0022531,GARD:0020117,GARD:0017262,Rare genetic disease +GARD:0020116,GARD:0022531,GARD:0020117,GARD:0010775,Rare genetic disease +GARD:0020116,GARD:0022531,GARD:0020117,GARD:0015004,Rare genetic disease +GARD:0020116,GARD:0022523,GARD:0020117,GARD:0012314,Rare immune disease +GARD:0020116,GARD:0022531,GARD:0020117,GARD:0001850,Rare genetic disease +GARD:0020116,GARD:0022523,GARD:0020117,GARD:0017766,Rare immune disease +GARD:0020116,GARD:0022536,GARD:0022063,GARD:0012314,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020116,GARD:0022531,GARD:0020117,GARD:0008686,Rare genetic disease +GARD:0020116,GARD:0022536,GARD:0022063,GARD:0015004,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020116,GARD:0022531,GARD:0020117,GARD:0017766,Rare genetic disease +GARD:0020116,GARD:0022523,GARD:0020117,GARD:0008686,Rare immune disease +GARD:0020116,GARD:0022531,GARD:0020117,GARD:0004978,Rare genetic disease +GARD:0020116,GARD:0022531,GARD:0020117,GARD:0009796,Rare genetic disease +GARD:0020116,GARD:0022531,GARD:0020117,GARD:0008466,Rare genetic disease +GARD:0020116,GARD:0022531,GARD:0020117,GARD:0012314,Rare genetic disease +GARD:0020116,GARD:0022523,GARD:0020117,GARD:0017049,Rare immune disease +GARD:0020116,GARD:0022536,GARD:0022063,GARD:0001850,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020116,GARD:0022523,GARD:0020117,GARD:0017262,Rare immune disease +GARD:0020116,GARD:0022531,GARD:0020117,GARD:0022465,Rare genetic disease +GARD:0020116,GARD:0022536,GARD:0022063,GARD:0004978,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020116,GARD:0022523,GARD:0020117,GARD:0022465,Rare immune disease +GARD:0020116,GARD:0022523,GARD:0020117,GARD:0015004,Rare immune disease +GARD:0020116,GARD:0022536,GARD:0022063,GARD:0008686,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020116,GARD:0022536,GARD:0022063,GARD:0008466,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020116,GARD:0022531,GARD:0020117,GARD:0017049,Rare genetic disease +GARD:0020116,GARD:0022536,GARD:0022063,GARD:0017262,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020117,GARD:0022523,GARD:0020168,GARD:0005258,Rare immune disease +GARD:0020117,GARD:0022523,GARD:0020168,GARD:0012357,Rare immune disease +GARD:0020117,GARD:0022531,GARD:0020168,GARD:0020633,Rare genetic disease +GARD:0020117,GARD:0022523,GARD:0020168,GARD:0020116,Rare immune disease +GARD:0020117,GARD:0022531,GARD:0020168,GARD:0000122,Rare genetic disease +GARD:0020117,GARD:0022531,GARD:0020168,GARD:0000575,Rare genetic disease +GARD:0020117,GARD:0022531,GARD:0020168,GARD:0020025,Rare genetic disease +GARD:0020117,GARD:0022531,GARD:0020168,GARD:0016756,Rare genetic disease +GARD:0020117,GARD:0022531,GARD:0020168,GARD:0012383,Rare genetic disease +GARD:0020117,GARD:0022531,GARD:0020168,GARD:0020116,Rare genetic disease +GARD:0020117,GARD:0022531,GARD:0020168,GARD:0022203,Rare genetic disease +GARD:0020117,GARD:0022531,GARD:0020168,GARD:0012357,Rare genetic disease +GARD:0020117,GARD:0022523,GARD:0020168,GARD:0016756,Rare immune disease +GARD:0020117,GARD:0022523,GARD:0020168,GARD:0012383,Rare immune disease +GARD:0020117,GARD:0022523,GARD:0020168,GARD:0022203,Rare immune disease +GARD:0020117,GARD:0022523,GARD:0020168,GARD:0000122,Rare immune disease +GARD:0020117,GARD:0022523,GARD:0020168,GARD:0020025,Rare immune disease +GARD:0020117,GARD:0022531,GARD:0020168,GARD:0005258,Rare genetic disease +GARD:0020117,GARD:0022523,GARD:0020168,GARD:0000575,Rare immune disease +GARD:0020117,GARD:0022523,GARD:0020168,GARD:0020633,Rare immune disease +GARD:0020118,GARD:0022531,GARD:0019807,GARD:0011903,Rare genetic disease +GARD:0020118,GARD:0022523,GARD:0019807,GARD:0011903,Rare immune disease +GARD:0020119,GARD:0022531,GARD:0021806,,Rare genetic disease +GARD:0020119,GARD:0022531,GARD:0021808,,Rare genetic disease +GARD:0020119,GARD:0022521,GARD:0016546,,Rare endocrine disease +GARD:0020119,GARD:0022514,GARD:0016546,,Rare gynecologic or obstetric disease +GARD:0020120,GARD:0022514,GARD:0016546,,Rare gynecologic or obstetric disease +GARD:0020120,GARD:0022521,GARD:0016546,,Rare endocrine disease +GARD:0020121,GARD:0022522,GARD:0018873,GARD:0016856,Rare hematologic disease +GARD:0020121,GARD:0022531,GARD:0018873,GARD:0006404,Rare genetic disease +GARD:0020121,GARD:0022531,GARD:0018873,GARD:0002238,Rare genetic disease +GARD:0020121,GARD:0022522,GARD:0018873,GARD:0002926,Rare hematologic disease +GARD:0020121,GARD:0022531,GARD:0018873,GARD:0002926,Rare genetic disease +GARD:0020121,GARD:0022522,GARD:0018873,GARD:0002238,Rare hematologic disease +GARD:0020121,GARD:0022531,GARD:0018873,GARD:0016856,Rare genetic disease +GARD:0020121,GARD:0022522,GARD:0018873,GARD:0006404,Rare hematologic disease +GARD:0020122,GARD:0022513,GARD:0019384,,Rare developmental defect during embryogenesis +GARD:0020122,GARD:0022536,GARD:0019384,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020122,GARD:0022531,GARD:0019384,,Rare genetic disease +GARD:0020122,GARD:0022534,GARD:0019384,,Rare abdominal surgical disease +GARD:0020123,GARD:0022520,GARD:0022087,,Rare ophthalmic disorder +GARD:0020124,GARD:0022528,GARD:0022528,,Rare otorhinolaryngologic disease +GARD:0020125,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0020125,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0020125,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0020125,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0020125,GARD:0022531,GARD:0021010,,Rare genetic disease +GARD:0020125,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0020126,GARD:0022513,GARD:0020826,,Rare developmental defect during embryogenesis +GARD:0020126,GARD:0022531,GARD:0021641,,Rare genetic disease +GARD:0020126,GARD:0022531,GARD:0020826,,Rare genetic disease +GARD:0020126,GARD:0022521,GARD:0021641,,Rare endocrine disease +GARD:0020126,GARD:0022529,GARD:0021641,,Rare infertility +GARD:0020126,GARD:0022514,GARD:0021641,,Rare gynecologic or obstetric disease +GARD:0020126,GARD:0022513,GARD:0021641,,Rare developmental defect during embryogenesis +GARD:0020126,GARD:0022524,GARD:0021641,,Rare neurologic disease +GARD:0020127,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0020127,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0020127,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0020127,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0020127,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0020128,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0020128,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0020128,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0020128,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0020129,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0020129,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0020130,GARD:0022522,GARD:0018878,GARD:0012757,Rare hematologic disease +GARD:0020130,GARD:0022536,GARD:0022063,GARD:0007132,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020130,GARD:0022536,GARD:0022063,GARD:0009319,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020130,GARD:0022522,GARD:0018878,GARD:0009319,Rare hematologic disease +GARD:0020130,GARD:0022535,GARD:0018878,GARD:0007132,Rare neoplastic disease +GARD:0020130,GARD:0022536,GARD:0022063,GARD:0009351,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020130,GARD:0022535,GARD:0018878,GARD:0012757,Rare neoplastic disease +GARD:0020130,GARD:0022536,GARD:0022063,GARD:0020105,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020130,GARD:0022535,GARD:0018878,GARD:0009351,Rare neoplastic disease +GARD:0020130,GARD:0022535,GARD:0018878,GARD:0009319,Rare neoplastic disease +GARD:0020130,GARD:0022522,GARD:0018878,GARD:0009351,Rare hematologic disease +GARD:0020130,GARD:0022522,GARD:0018878,GARD:0007132,Rare hematologic disease +GARD:0020130,GARD:0022536,GARD:0022063,GARD:0012757,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020130,GARD:0022535,GARD:0018878,GARD:0020105,Rare neoplastic disease +GARD:0020130,GARD:0022522,GARD:0018878,GARD:0020105,Rare hematologic disease +GARD:0020131,GARD:0022522,GARD:0018878,GARD:0019440,Rare hematologic disease +GARD:0020131,GARD:0022535,GARD:0018878,GARD:0019443,Rare neoplastic disease +GARD:0020131,GARD:0022535,GARD:0018878,GARD:0017366,Rare neoplastic disease +GARD:0020131,GARD:0022536,GARD:0022063,GARD:0012656,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020131,GARD:0022535,GARD:0018878,GARD:0008686,Rare neoplastic disease +GARD:0020131,GARD:0022522,GARD:0018878,GARD:0017262,Rare hematologic disease +GARD:0020131,GARD:0022536,GARD:0022063,GARD:0008686,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020131,GARD:0022522,GARD:0018878,GARD:0008686,Rare hematologic disease +GARD:0020131,GARD:0022536,GARD:0022063,GARD:0017262,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020131,GARD:0022536,GARD:0022063,GARD:0017366,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020131,GARD:0022535,GARD:0018878,GARD:0019440,Rare neoplastic disease +GARD:0020131,GARD:0022536,GARD:0022063,GARD:0019443,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020131,GARD:0022535,GARD:0018878,GARD:0017262,Rare neoplastic disease +GARD:0020131,GARD:0022536,GARD:0022063,GARD:0020548,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020131,GARD:0022522,GARD:0018878,GARD:0012656,Rare hematologic disease +GARD:0020131,GARD:0022536,GARD:0022063,GARD:0019440,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020131,GARD:0022522,GARD:0018878,GARD:0019441,Rare hematologic disease +GARD:0020131,GARD:0022522,GARD:0018878,GARD:0017366,Rare hematologic disease +GARD:0020131,GARD:0022536,GARD:0022063,GARD:0019441,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020131,GARD:0022522,GARD:0018878,GARD:0019443,Rare hematologic disease +GARD:0020131,GARD:0022535,GARD:0018878,GARD:0012656,Rare neoplastic disease +GARD:0020131,GARD:0022535,GARD:0018878,GARD:0019441,Rare neoplastic disease +GARD:0020131,GARD:0022522,GARD:0018878,GARD:0020548,Rare hematologic disease +GARD:0020131,GARD:0022535,GARD:0018878,GARD:0020548,Rare neoplastic disease +GARD:0020132,GARD:0022535,GARD:0011953,GARD:0021244,Rare neoplastic disease +GARD:0020132,GARD:0022536,GARD:0011953,GARD:0021245,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020132,GARD:0022535,GARD:0011953,GARD:0021245,Rare neoplastic disease +GARD:0020132,GARD:0022522,GARD:0011953,GARD:0021245,Rare hematologic disease +GARD:0020132,GARD:0022536,GARD:0011953,GARD:0021244,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020132,GARD:0022522,GARD:0011953,GARD:0021244,Rare hematologic disease +GARD:0020133,GARD:0022535,GARD:0011953,GARD:0009809,Rare neoplastic disease +GARD:0020133,GARD:0022536,GARD:0011953,GARD:0013731,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020133,GARD:0022522,GARD:0011953,GARD:0021562,Rare hematologic disease +GARD:0020133,GARD:0022522,GARD:0011953,GARD:0006226,Rare hematologic disease +GARD:0020133,GARD:0022536,GARD:0011953,GARD:0009553,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020133,GARD:0022536,GARD:0011953,GARD:0011973,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020133,GARD:0022535,GARD:0011953,GARD:0006226,Rare neoplastic disease +GARD:0020133,GARD:0022536,GARD:0011953,GARD:0010556,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020133,GARD:0022522,GARD:0011953,GARD:0010556,Rare hematologic disease +GARD:0020133,GARD:0022522,GARD:0011953,GARD:0009553,Rare hematologic disease +GARD:0020133,GARD:0022522,GARD:0011953,GARD:0003112,Rare hematologic disease +GARD:0020133,GARD:0022536,GARD:0011953,GARD:0003112,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020133,GARD:0022536,GARD:0011953,GARD:0009809,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020133,GARD:0022536,GARD:0011953,GARD:0019077,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020133,GARD:0022535,GARD:0011953,GARD:0011973,Rare neoplastic disease +GARD:0020133,GARD:0022535,GARD:0011953,GARD:0013731,Rare neoplastic disease +GARD:0020133,GARD:0022536,GARD:0011953,GARD:0021562,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020133,GARD:0022536,GARD:0011953,GARD:0022073,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020133,GARD:0022522,GARD:0011953,GARD:0022073,Rare hematologic disease +GARD:0020133,GARD:0022536,GARD:0011953,GARD:0006226,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020133,GARD:0022522,GARD:0011953,GARD:0021563,Rare hematologic disease +GARD:0020133,GARD:0022535,GARD:0011953,GARD:0021562,Rare neoplastic disease +GARD:0020133,GARD:0022535,GARD:0011953,GARD:0019077,Rare neoplastic disease +GARD:0020133,GARD:0022522,GARD:0011953,GARD:0009809,Rare hematologic disease +GARD:0020133,GARD:0022522,GARD:0011953,GARD:0019077,Rare hematologic disease +GARD:0020133,GARD:0022535,GARD:0011953,GARD:0022073,Rare neoplastic disease +GARD:0020133,GARD:0022522,GARD:0011953,GARD:0011973,Rare hematologic disease +GARD:0020133,GARD:0022522,GARD:0011953,GARD:0013731,Rare hematologic disease +GARD:0020133,GARD:0022535,GARD:0011953,GARD:0010556,Rare neoplastic disease +GARD:0020133,GARD:0022535,GARD:0011953,GARD:0003112,Rare neoplastic disease +GARD:0020133,GARD:0022536,GARD:0011953,GARD:0021563,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020133,GARD:0022535,GARD:0011953,GARD:0009553,Rare neoplastic disease +GARD:0020133,GARD:0022535,GARD:0011953,GARD:0021563,Rare neoplastic disease +GARD:0020134,GARD:0022531,GARD:0005898,GARD:0016536,Rare genetic disease +GARD:0020134,GARD:0022531,GARD:0005898,GARD:0006014,Rare genetic disease +GARD:0020134,GARD:0022524,GARD:0005898,GARD:0016536,Rare neurologic disease +GARD:0020134,GARD:0022524,GARD:0005898,GARD:0017443,Rare neurologic disease +GARD:0020134,GARD:0022524,GARD:0005898,GARD:0006014,Rare neurologic disease +GARD:0020134,GARD:0022531,GARD:0005898,GARD:0017443,Rare genetic disease +GARD:0020135,GARD:0022529,GARD:0021670,GARD:0020643,Rare infertility +GARD:0020135,GARD:0022529,GARD:0021670,GARD:0020219,Rare infertility +GARD:0020135,GARD:0022531,GARD:0020341,GARD:0020219,Rare genetic disease +GARD:0020135,GARD:0022531,GARD:0019272,GARD:0020643,Rare genetic disease +GARD:0020135,GARD:0022531,GARD:0019272,GARD:0020219,Rare genetic disease +GARD:0020135,GARD:0022521,GARD:0019272,GARD:0020219,Rare endocrine disease +GARD:0020135,GARD:0022531,GARD:0021686,GARD:0020643,Rare genetic disease +GARD:0020135,GARD:0022521,GARD:0019272,GARD:0020643,Rare endocrine disease +GARD:0020135,GARD:0022531,GARD:0019272,GARD:0020220,Rare genetic disease +GARD:0020135,GARD:0022531,GARD:0020341,GARD:0020220,Rare genetic disease +GARD:0020135,GARD:0022529,GARD:0021670,GARD:0010128,Rare infertility +GARD:0020135,GARD:0022531,GARD:0021686,GARD:0020220,Rare genetic disease +GARD:0020135,GARD:0022514,GARD:0020200,GARD:0020220,Rare gynecologic or obstetric disease +GARD:0020135,GARD:0022531,GARD:0020341,GARD:0010128,Rare genetic disease +GARD:0020135,GARD:0022529,GARD:0021670,GARD:0020220,Rare infertility +GARD:0020135,GARD:0022531,GARD:0021686,GARD:0010128,Rare genetic disease +GARD:0020135,GARD:0022514,GARD:0020200,GARD:0010128,Rare gynecologic or obstetric disease +GARD:0020135,GARD:0022521,GARD:0019272,GARD:0020220,Rare endocrine disease +GARD:0020135,GARD:0022531,GARD:0019272,GARD:0010128,Rare genetic disease +GARD:0020135,GARD:0022514,GARD:0020200,GARD:0020219,Rare gynecologic or obstetric disease +GARD:0020135,GARD:0022521,GARD:0019272,GARD:0010128,Rare endocrine disease +GARD:0020135,GARD:0022531,GARD:0020341,GARD:0020643,Rare genetic disease +GARD:0020135,GARD:0022531,GARD:0021686,GARD:0020219,Rare genetic disease +GARD:0020135,GARD:0022514,GARD:0020200,GARD:0020643,Rare gynecologic or obstetric disease +GARD:0020136,GARD:0022521,GARD:0020221,GARD:0010980,Rare endocrine disease +GARD:0020136,GARD:0022521,GARD:0020221,GARD:0008570,Rare endocrine disease +GARD:0020136,GARD:0022521,GARD:0020221,GARD:0018866,Rare endocrine disease +GARD:0020137,GARD:0022521,GARD:0020560,GARD:0019092,Rare endocrine disease +GARD:0020137,GARD:0022531,GARD:0020560,GARD:0017791,Rare genetic disease +GARD:0020137,GARD:0022531,GARD:0020560,GARD:0012163,Rare genetic disease +GARD:0020137,GARD:0022531,GARD:0020560,GARD:0000080,Rare genetic disease +GARD:0020137,GARD:0022521,GARD:0020560,GARD:0017787,Rare endocrine disease +GARD:0020137,GARD:0022521,GARD:0020560,GARD:0022366,Rare endocrine disease +GARD:0020137,GARD:0022531,GARD:0020560,GARD:0000414,Rare genetic disease +GARD:0020137,GARD:0022521,GARD:0020560,GARD:0022398,Rare endocrine disease +GARD:0020137,GARD:0022521,GARD:0020560,GARD:0004271,Rare endocrine disease +GARD:0020137,GARD:0022521,GARD:0020560,GARD:0016618,Rare endocrine disease +GARD:0020137,GARD:0022531,GARD:0020560,GARD:0003062,Rare genetic disease +GARD:0020137,GARD:0022521,GARD:0020560,GARD:0003062,Rare endocrine disease +GARD:0020137,GARD:0022531,GARD:0020560,GARD:0008270,Rare genetic disease +GARD:0020137,GARD:0022521,GARD:0020560,GARD:0000080,Rare endocrine disease +GARD:0020137,GARD:0022521,GARD:0020560,GARD:0008270,Rare endocrine disease +GARD:0020137,GARD:0022521,GARD:0020560,GARD:0002049,Rare endocrine disease +GARD:0020137,GARD:0022521,GARD:0020560,GARD:0012163,Rare endocrine disease +GARD:0020137,GARD:0022531,GARD:0020560,GARD:0019092,Rare genetic disease +GARD:0020137,GARD:0022531,GARD:0020560,GARD:0017787,Rare genetic disease +GARD:0020137,GARD:0022531,GARD:0020560,GARD:0016618,Rare genetic disease +GARD:0020137,GARD:0022521,GARD:0020560,GARD:0017791,Rare endocrine disease +GARD:0020137,GARD:0022531,GARD:0020560,GARD:0022366,Rare genetic disease +GARD:0020137,GARD:0022531,GARD:0020560,GARD:0022398,Rare genetic disease +GARD:0020137,GARD:0022531,GARD:0020560,GARD:0004271,Rare genetic disease +GARD:0020137,GARD:0022531,GARD:0020560,GARD:0002049,Rare genetic disease +GARD:0020137,GARD:0022521,GARD:0020560,GARD:0000414,Rare endocrine disease +GARD:0020138,GARD:0022513,GARD:0019576,,Rare developmental defect during embryogenesis +GARD:0020138,GARD:0022529,GARD:0019576,,Rare infertility +GARD:0020138,GARD:0022524,GARD:0019576,,Rare neurologic disease +GARD:0020138,GARD:0022531,GARD:0019576,,Rare genetic disease +GARD:0020138,GARD:0022514,GARD:0019576,,Rare gynecologic or obstetric disease +GARD:0020138,GARD:0022521,GARD:0019576,,Rare endocrine disease +GARD:0020139,GARD:0022513,GARD:0019576,,Rare developmental defect during embryogenesis +GARD:0020139,GARD:0022529,GARD:0019576,,Rare infertility +GARD:0020139,GARD:0022531,GARD:0019576,,Rare genetic disease +GARD:0020139,GARD:0022524,GARD:0019576,,Rare neurologic disease +GARD:0020139,GARD:0022514,GARD:0019576,,Rare gynecologic or obstetric disease +GARD:0020139,GARD:0022521,GARD:0019576,,Rare endocrine disease +GARD:0020140,GARD:0022531,GARD:0002252,GARD:0010602,Rare genetic disease +GARD:0020140,GARD:0022521,GARD:0002252,GARD:0015020,Rare endocrine disease +GARD:0020140,GARD:0022531,GARD:0002252,GARD:0015020,Rare genetic disease +GARD:0020140,GARD:0022521,GARD:0002252,GARD:0010602,Rare endocrine disease +GARD:0020141,GARD:0022531,GARD:0021806,GARD:0006995,Rare genetic disease +GARD:0020141,GARD:0022521,GARD:0007446,GARD:0004475,Rare endocrine disease +GARD:0020141,GARD:0022531,GARD:0020012,GARD:0004475,Rare genetic disease +GARD:0020141,GARD:0022531,GARD:0020012,GARD:0012494,Rare genetic disease +GARD:0020141,GARD:0022521,GARD:0007446,GARD:0012494,Rare endocrine disease +GARD:0020141,GARD:0022531,GARD:0021806,GARD:0004475,Rare genetic disease +GARD:0020141,GARD:0022521,GARD:0007446,GARD:0006995,Rare endocrine disease +GARD:0020141,GARD:0022531,GARD:0021806,GARD:0012494,Rare genetic disease +GARD:0020141,GARD:0022531,GARD:0020012,GARD:0006995,Rare genetic disease +GARD:0020142,GARD:0022521,GARD:0001487,GARD:0020646,Rare endocrine disease +GARD:0020142,GARD:0022521,GARD:0001487,GARD:0020645,Rare endocrine disease +GARD:0020143,GARD:0022531,GARD:0016536,,Rare genetic disease +GARD:0020143,GARD:0022524,GARD:0016536,,Rare neurologic disease +GARD:0020144,GARD:0022525,GARD:0020257,,Rare systemic or rheumatologic disease +GARD:0020145,GARD:0022506,GARD:0021257,,Rare hepatic disease +GARD:0020145,GARD:0022536,GARD:0021257,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020145,GARD:0022535,GARD:0021257,,Rare neoplastic disease +GARD:0020146,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0020147,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0020147,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0020147,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0020148,GARD:0022531,GARD:0020684,,Rare genetic disease +GARD:0020148,GARD:0022531,GARD:0018873,,Rare genetic disease +GARD:0020148,GARD:0022522,GARD:0018873,,Rare hematologic disease +GARD:0020149,GARD:0022520,GARD:0020597,,Rare ophthalmic disorder +GARD:0020149,GARD:0022524,GARD:0020597,,Rare neurologic disease +GARD:0020149,GARD:0022509,GARD:0020597,,Rare infectious disease +GARD:0020150,GARD:0022524,GARD:0020151,,Rare neurologic disease +GARD:0020150,GARD:0022509,GARD:0020151,,Rare infectious disease +GARD:0020150,GARD:0022520,GARD:0020151,,Rare ophthalmic disorder +GARD:0020151,GARD:0022524,GARD:0020597,GARD:0020152,Rare neurologic disease +GARD:0020151,GARD:0022509,GARD:0020597,GARD:0020152,Rare infectious disease +GARD:0020151,GARD:0022520,GARD:0020597,GARD:0020150,Rare ophthalmic disorder +GARD:0020151,GARD:0022520,GARD:0020597,GARD:0020152,Rare ophthalmic disorder +GARD:0020151,GARD:0022509,GARD:0020597,GARD:0020150,Rare infectious disease +GARD:0020151,GARD:0022524,GARD:0020597,GARD:0020150,Rare neurologic disease +GARD:0020152,GARD:0022520,GARD:0020151,,Rare ophthalmic disorder +GARD:0020152,GARD:0022524,GARD:0020151,,Rare neurologic disease +GARD:0020152,GARD:0022509,GARD:0020151,,Rare infectious disease +GARD:0020153,GARD:0022520,GARD:0022102,,Rare ophthalmic disorder +GARD:0020154,GARD:0022510,GARD:0020166,,Rare skin disease +GARD:0020154,GARD:0022535,GARD:0020166,,Rare neoplastic disease +GARD:0020154,GARD:0022536,GARD:0020166,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020154,GARD:0022522,GARD:0020166,,Rare hematologic disease +GARD:0020155,GARD:0022535,GARD:0020166,,Rare neoplastic disease +GARD:0020155,GARD:0022536,GARD:0020166,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020155,GARD:0022510,GARD:0020166,,Rare skin disease +GARD:0020155,GARD:0022522,GARD:0020166,,Rare hematologic disease +GARD:0020156,GARD:0022535,GARD:0020161,,Rare neoplastic disease +GARD:0020156,GARD:0022522,GARD:0020161,,Rare hematologic disease +GARD:0020156,GARD:0022536,GARD:0020161,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020156,GARD:0022510,GARD:0020161,,Rare skin disease +GARD:0020157,GARD:0022536,GARD:0020162,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020157,GARD:0022510,GARD:0020162,,Rare skin disease +GARD:0020157,GARD:0022522,GARD:0020162,,Rare hematologic disease +GARD:0020157,GARD:0022535,GARD:0020162,,Rare neoplastic disease +GARD:0020158,GARD:0022536,GARD:0020162,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020158,GARD:0022535,GARD:0020162,,Rare neoplastic disease +GARD:0020158,GARD:0022522,GARD:0020162,,Rare hematologic disease +GARD:0020158,GARD:0022510,GARD:0020162,,Rare skin disease +GARD:0020159,GARD:0022522,GARD:0020164,,Rare hematologic disease +GARD:0020159,GARD:0022510,GARD:0020164,,Rare skin disease +GARD:0020159,GARD:0022536,GARD:0020164,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020159,GARD:0022535,GARD:0020164,,Rare neoplastic disease +GARD:0020160,GARD:0022510,GARD:0020163,,Rare skin disease +GARD:0020160,GARD:0022536,GARD:0020163,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020160,GARD:0022522,GARD:0020163,,Rare hematologic disease +GARD:0020160,GARD:0022535,GARD:0020163,,Rare neoplastic disease +GARD:0020161,GARD:0022522,GARD:0006226,GARD:0010193,Rare hematologic disease +GARD:0020161,GARD:0022536,GARD:0006226,GARD:0010193,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020161,GARD:0022522,GARD:0006226,GARD:0020156,Rare hematologic disease +GARD:0020161,GARD:0022522,GARD:0006226,GARD:0020166,Rare hematologic disease +GARD:0020161,GARD:0022536,GARD:0006226,GARD:0018697,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020161,GARD:0022535,GARD:0006226,GARD:0020156,Rare neoplastic disease +GARD:0020161,GARD:0022510,GARD:0006226,GARD:0018697,Rare skin disease +GARD:0020161,GARD:0022535,GARD:0006226,GARD:0020166,Rare neoplastic disease +GARD:0020161,GARD:0022535,GARD:0006226,GARD:0010193,Rare neoplastic disease +GARD:0020161,GARD:0022510,GARD:0006226,GARD:0010193,Rare skin disease +GARD:0020161,GARD:0022536,GARD:0006226,GARD:0020166,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020161,GARD:0022522,GARD:0006226,GARD:0018697,Rare hematologic disease +GARD:0020161,GARD:0022510,GARD:0006226,GARD:0020156,Rare skin disease +GARD:0020161,GARD:0022510,GARD:0006226,GARD:0020166,Rare skin disease +GARD:0020161,GARD:0022536,GARD:0006226,GARD:0020156,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020161,GARD:0022535,GARD:0006226,GARD:0018697,Rare neoplastic disease +GARD:0020162,GARD:0022536,GARD:0006226,GARD:0019078,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020162,GARD:0022522,GARD:0006226,GARD:0007041,Rare hematologic disease +GARD:0020162,GARD:0022522,GARD:0006226,GARD:0019076,Rare hematologic disease +GARD:0020162,GARD:0022510,GARD:0006226,GARD:0020157,Rare skin disease +GARD:0020162,GARD:0022536,GARD:0006226,GARD:0019076,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020162,GARD:0022522,GARD:0006226,GARD:0020158,Rare hematologic disease +GARD:0020162,GARD:0022535,GARD:0006226,GARD:0007041,Rare neoplastic disease +GARD:0020162,GARD:0022536,GARD:0006226,GARD:0007041,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020162,GARD:0022535,GARD:0006226,GARD:0019078,Rare neoplastic disease +GARD:0020162,GARD:0022535,GARD:0006226,GARD:0019076,Rare neoplastic disease +GARD:0020162,GARD:0022510,GARD:0006226,GARD:0007629,Rare skin disease +GARD:0020162,GARD:0022535,GARD:0006226,GARD:0007629,Rare neoplastic disease +GARD:0020162,GARD:0022522,GARD:0006226,GARD:0007629,Rare hematologic disease +GARD:0020162,GARD:0022535,GARD:0006226,GARD:0020157,Rare neoplastic disease +GARD:0020162,GARD:0022510,GARD:0006226,GARD:0019076,Rare skin disease +GARD:0020162,GARD:0022536,GARD:0006226,GARD:0020158,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020162,GARD:0022536,GARD:0006226,GARD:0007629,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020162,GARD:0022536,GARD:0006226,GARD:0020157,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020162,GARD:0022522,GARD:0006226,GARD:0020157,Rare hematologic disease +GARD:0020162,GARD:0022535,GARD:0006226,GARD:0020158,Rare neoplastic disease +GARD:0020162,GARD:0022522,GARD:0006226,GARD:0019078,Rare hematologic disease +GARD:0020162,GARD:0022510,GARD:0006226,GARD:0020158,Rare skin disease +GARD:0020162,GARD:0022510,GARD:0006226,GARD:0007041,Rare skin disease +GARD:0020162,GARD:0022510,GARD:0006226,GARD:0019078,Rare skin disease +GARD:0020163,GARD:0022522,GARD:0020165,GARD:0020160,Rare hematologic disease +GARD:0020163,GARD:0022536,GARD:0020165,GARD:0020160,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020163,GARD:0022536,GARD:0021245,GARD:0020160,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020163,GARD:0022535,GARD:0021245,GARD:0020160,Rare neoplastic disease +GARD:0020163,GARD:0022510,GARD:0020165,GARD:0020160,Rare skin disease +GARD:0020163,GARD:0022535,GARD:0020165,GARD:0020160,Rare neoplastic disease +GARD:0020163,GARD:0022522,GARD:0021245,GARD:0020160,Rare hematologic disease +GARD:0020164,GARD:0022536,GARD:0021244,GARD:0020159,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020164,GARD:0022522,GARD:0021244,GARD:0020159,Rare hematologic disease +GARD:0020164,GARD:0022510,GARD:0020165,GARD:0020159,Rare skin disease +GARD:0020164,GARD:0022522,GARD:0021244,GARD:0013701,Rare hematologic disease +GARD:0020164,GARD:0022536,GARD:0020165,GARD:0013701,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020164,GARD:0022535,GARD:0021244,GARD:0013701,Rare neoplastic disease +GARD:0020164,GARD:0022535,GARD:0020165,GARD:0020159,Rare neoplastic disease +GARD:0020164,GARD:0022522,GARD:0020165,GARD:0020159,Rare hematologic disease +GARD:0020164,GARD:0022536,GARD:0021244,GARD:0013701,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020164,GARD:0022536,GARD:0020165,GARD:0020159,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020164,GARD:0022535,GARD:0021244,GARD:0020159,Rare neoplastic disease +GARD:0020164,GARD:0022522,GARD:0020165,GARD:0013701,Rare hematologic disease +GARD:0020164,GARD:0022535,GARD:0020165,GARD:0013701,Rare neoplastic disease +GARD:0020164,GARD:0022510,GARD:0020165,GARD:0013701,Rare skin disease +GARD:0020165,GARD:0022510,GARD:0018698,GARD:0020164,Rare skin disease +GARD:0020165,GARD:0022522,GARD:0018698,GARD:0020163,Rare hematologic disease +GARD:0020165,GARD:0022536,GARD:0018698,GARD:0020163,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020165,GARD:0022522,GARD:0018698,GARD:0020164,Rare hematologic disease +GARD:0020165,GARD:0022535,GARD:0018698,GARD:0020163,Rare neoplastic disease +GARD:0020165,GARD:0022535,GARD:0018698,GARD:0020164,Rare neoplastic disease +GARD:0020165,GARD:0022510,GARD:0018698,GARD:0020163,Rare skin disease +GARD:0020165,GARD:0022536,GARD:0018698,GARD:0020164,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020166,GARD:0022522,GARD:0020161,GARD:0020155,Rare hematologic disease +GARD:0020166,GARD:0022535,GARD:0020161,GARD:0010986,Rare neoplastic disease +GARD:0020166,GARD:0022522,GARD:0020161,GARD:0020154,Rare hematologic disease +GARD:0020166,GARD:0022510,GARD:0020161,GARD:0020154,Rare skin disease +GARD:0020166,GARD:0022536,GARD:0020161,GARD:0020155,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020166,GARD:0022535,GARD:0020161,GARD:0020154,Rare neoplastic disease +GARD:0020166,GARD:0022535,GARD:0020161,GARD:0003863,Rare neoplastic disease +GARD:0020166,GARD:0022535,GARD:0020161,GARD:0020155,Rare neoplastic disease +GARD:0020166,GARD:0022536,GARD:0020161,GARD:0010986,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020166,GARD:0022522,GARD:0020161,GARD:0010986,Rare hematologic disease +GARD:0020166,GARD:0022522,GARD:0020161,GARD:0003863,Rare hematologic disease +GARD:0020166,GARD:0022536,GARD:0020161,GARD:0003863,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020166,GARD:0022510,GARD:0020161,GARD:0003863,Rare skin disease +GARD:0020166,GARD:0022510,GARD:0020161,GARD:0010986,Rare skin disease +GARD:0020166,GARD:0022510,GARD:0020161,GARD:0020155,Rare skin disease +GARD:0020166,GARD:0022536,GARD:0020161,GARD:0020154,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020167,GARD:0022523,GARD:0021359,GARD:0009812,Rare immune disease +GARD:0020167,GARD:0022523,GARD:0021359,GARD:0016605,Rare immune disease +GARD:0020167,GARD:0022523,GARD:0021359,GARD:0008234,Rare immune disease +GARD:0020167,GARD:0022523,GARD:0021359,GARD:0021929,Rare immune disease +GARD:0020168,GARD:0022523,GARD:0019813,GARD:0021510,Rare immune disease +GARD:0020168,GARD:0022531,GARD:0019813,GARD:0019807,Rare genetic disease +GARD:0020168,GARD:0022523,GARD:0019813,GARD:0019806,Rare immune disease +GARD:0020168,GARD:0022531,GARD:0019813,GARD:0019806,Rare genetic disease +GARD:0020168,GARD:0022523,GARD:0019813,GARD:0019807,Rare immune disease +GARD:0020168,GARD:0022523,GARD:0019813,GARD:0020117,Rare immune disease +GARD:0020168,GARD:0022531,GARD:0019813,GARD:0020117,Rare genetic disease +GARD:0020168,GARD:0022531,GARD:0019813,GARD:0021510,Rare genetic disease +GARD:0020169,GARD:0022531,GARD:0019439,GARD:0016690,Rare genetic disease +GARD:0020169,GARD:0022531,GARD:0019439,GARD:0017083,Rare genetic disease +GARD:0020169,GARD:0022531,GARD:0019439,GARD:0010823,Rare genetic disease +GARD:0020169,GARD:0022521,GARD:0019439,GARD:0016689,Rare endocrine disease +GARD:0020169,GARD:0022521,GARD:0019439,GARD:0010823,Rare endocrine disease +GARD:0020169,GARD:0022531,GARD:0019439,GARD:0016689,Rare genetic disease +GARD:0020169,GARD:0022521,GARD:0019439,GARD:0017083,Rare endocrine disease +GARD:0020169,GARD:0022521,GARD:0019439,GARD:0016690,Rare endocrine disease +GARD:0020170,GARD:0022514,GARD:0022514,GARD:0020187,Rare gynecologic or obstetric disease +GARD:0020170,GARD:0022514,GARD:0022514,GARD:0020171,Rare gynecologic or obstetric disease +GARD:0020171,GARD:0022532,GARD:0020251,GARD:0020184,Rare urogenital disease +GARD:0020171,GARD:0022514,GARD:0020170,GARD:0020184,Rare gynecologic or obstetric disease +GARD:0020171,GARD:0022536,GARD:0020251,GARD:0020186,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020171,GARD:0022532,GARD:0020251,GARD:0001859,Rare urogenital disease +GARD:0020171,GARD:0022532,GARD:0020251,GARD:0020186,Rare urogenital disease +GARD:0020171,GARD:0022536,GARD:0020251,GARD:0001859,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020171,GARD:0022514,GARD:0020170,GARD:0020186,Rare gynecologic or obstetric disease +GARD:0020171,GARD:0022513,GARD:0020251,GARD:0020184,Rare developmental defect during embryogenesis +GARD:0020171,GARD:0022536,GARD:0020251,GARD:0020180,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020171,GARD:0022513,GARD:0020251,GARD:0020183,Rare developmental defect during embryogenesis +GARD:0020171,GARD:0022513,GARD:0020251,GARD:0020186,Rare developmental defect during embryogenesis +GARD:0020171,GARD:0022536,GARD:0020251,GARD:0007100,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020171,GARD:0022513,GARD:0020251,GARD:0001859,Rare developmental defect during embryogenesis +GARD:0020171,GARD:0022532,GARD:0020251,GARD:0020180,Rare urogenital disease +GARD:0020171,GARD:0022532,GARD:0020251,GARD:0007100,Rare urogenital disease +GARD:0020171,GARD:0022513,GARD:0020251,GARD:0020185,Rare developmental defect during embryogenesis +GARD:0020171,GARD:0022513,GARD:0020251,GARD:0007100,Rare developmental defect during embryogenesis +GARD:0020171,GARD:0022514,GARD:0020170,GARD:0001859,Rare gynecologic or obstetric disease +GARD:0020171,GARD:0022536,GARD:0020251,GARD:0020185,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020171,GARD:0022532,GARD:0020251,GARD:0020183,Rare urogenital disease +GARD:0020171,GARD:0022532,GARD:0020251,GARD:0020185,Rare urogenital disease +GARD:0020171,GARD:0022514,GARD:0020170,GARD:0007100,Rare gynecologic or obstetric disease +GARD:0020171,GARD:0022536,GARD:0020251,GARD:0020184,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020171,GARD:0022514,GARD:0020170,GARD:0020180,Rare gynecologic or obstetric disease +GARD:0020171,GARD:0022513,GARD:0020251,GARD:0020180,Rare developmental defect during embryogenesis +GARD:0020171,GARD:0022514,GARD:0020170,GARD:0020185,Rare gynecologic or obstetric disease +GARD:0020171,GARD:0022514,GARD:0020170,GARD:0020183,Rare gynecologic or obstetric disease +GARD:0020171,GARD:0022536,GARD:0020251,GARD:0020183,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020172,GARD:0022532,GARD:0007100,GARD:0017195,Rare urogenital disease +GARD:0020172,GARD:0022513,GARD:0007100,GARD:0005445,Rare developmental defect during embryogenesis +GARD:0020172,GARD:0022531,GARD:0007100,GARD:0005445,Rare genetic disease +GARD:0020172,GARD:0022531,GARD:0007100,GARD:0017195,Rare genetic disease +GARD:0020172,GARD:0022536,GARD:0007100,GARD:0005445,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020172,GARD:0022532,GARD:0007100,GARD:0005445,Rare urogenital disease +GARD:0020172,GARD:0022513,GARD:0007100,GARD:0017195,Rare developmental defect during embryogenesis +GARD:0020172,GARD:0022514,GARD:0007100,GARD:0017195,Rare gynecologic or obstetric disease +GARD:0020172,GARD:0022514,GARD:0007100,GARD:0005445,Rare gynecologic or obstetric disease +GARD:0020172,GARD:0022536,GARD:0007100,GARD:0017195,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020173,GARD:0022532,GARD:0007100,GARD:0020175,Rare urogenital disease +GARD:0020173,GARD:0022536,GARD:0007100,GARD:0020174,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020173,GARD:0022513,GARD:0007100,GARD:0020174,Rare developmental defect during embryogenesis +GARD:0020173,GARD:0022514,GARD:0007100,GARD:0020174,Rare gynecologic or obstetric disease +GARD:0020173,GARD:0022531,GARD:0007100,GARD:0020174,Rare genetic disease +GARD:0020173,GARD:0022513,GARD:0007100,GARD:0020175,Rare developmental defect during embryogenesis +GARD:0020173,GARD:0022514,GARD:0007100,GARD:0020175,Rare gynecologic or obstetric disease +GARD:0020173,GARD:0022531,GARD:0007100,GARD:0020175,Rare genetic disease +GARD:0020173,GARD:0022536,GARD:0007100,GARD:0020175,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020173,GARD:0022532,GARD:0007100,GARD:0020174,Rare urogenital disease +GARD:0020174,GARD:0022514,GARD:0020173,,Rare gynecologic or obstetric disease +GARD:0020174,GARD:0022536,GARD:0020173,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020174,GARD:0022531,GARD:0020173,,Rare genetic disease +GARD:0020174,GARD:0022532,GARD:0020173,,Rare urogenital disease +GARD:0020174,GARD:0022513,GARD:0020173,,Rare developmental defect during embryogenesis +GARD:0020175,GARD:0022532,GARD:0020173,,Rare urogenital disease +GARD:0020175,GARD:0022513,GARD:0020173,,Rare developmental defect during embryogenesis +GARD:0020175,GARD:0022514,GARD:0020173,,Rare gynecologic or obstetric disease +GARD:0020175,GARD:0022536,GARD:0020173,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020175,GARD:0022531,GARD:0020173,,Rare genetic disease +GARD:0020176,GARD:0022513,GARD:0020183,GARD:0020178,Rare developmental defect during embryogenesis +GARD:0020176,GARD:0022513,GARD:0020183,GARD:0020177,Rare developmental defect during embryogenesis +GARD:0020176,GARD:0022536,GARD:0020183,GARD:0020178,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020176,GARD:0022532,GARD:0020183,GARD:0020177,Rare urogenital disease +GARD:0020176,GARD:0022536,GARD:0020183,GARD:0020177,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020176,GARD:0022532,GARD:0020183,GARD:0020178,Rare urogenital disease +GARD:0020176,GARD:0022514,GARD:0020183,GARD:0020178,Rare gynecologic or obstetric disease +GARD:0020176,GARD:0022514,GARD:0020183,GARD:0020177,Rare gynecologic or obstetric disease +GARD:0020177,GARD:0022532,GARD:0020176,,Rare urogenital disease +GARD:0020177,GARD:0022513,GARD:0020176,,Rare developmental defect during embryogenesis +GARD:0020177,GARD:0022536,GARD:0020176,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020177,GARD:0022514,GARD:0020176,,Rare gynecologic or obstetric disease +GARD:0020178,GARD:0022532,GARD:0020176,,Rare urogenital disease +GARD:0020178,GARD:0022513,GARD:0020176,,Rare developmental defect during embryogenesis +GARD:0020178,GARD:0022536,GARD:0020176,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020178,GARD:0022514,GARD:0020176,,Rare gynecologic or obstetric disease +GARD:0020179,GARD:0022536,GARD:0020183,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020179,GARD:0022514,GARD:0020183,,Rare gynecologic or obstetric disease +GARD:0020179,GARD:0022532,GARD:0020183,,Rare urogenital disease +GARD:0020179,GARD:0022513,GARD:0020183,,Rare developmental defect during embryogenesis +GARD:0020180,GARD:0022536,GARD:0020171,GARD:0020182,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020180,GARD:0022529,GARD:0021684,GARD:0020181,Rare infertility +GARD:0020180,GARD:0022536,GARD:0020171,GARD:0020181,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020180,GARD:0022514,GARD:0020171,GARD:0020181,Rare gynecologic or obstetric disease +GARD:0020180,GARD:0022529,GARD:0021684,GARD:0020182,Rare infertility +GARD:0020180,GARD:0022514,GARD:0020171,GARD:0020182,Rare gynecologic or obstetric disease +GARD:0020180,GARD:0022532,GARD:0020171,GARD:0020182,Rare urogenital disease +GARD:0020180,GARD:0022513,GARD:0020171,GARD:0020182,Rare developmental defect during embryogenesis +GARD:0020180,GARD:0022532,GARD:0020171,GARD:0020181,Rare urogenital disease +GARD:0020180,GARD:0022513,GARD:0020171,GARD:0020181,Rare developmental defect during embryogenesis +GARD:0020181,GARD:0022532,GARD:0020180,,Rare urogenital disease +GARD:0020181,GARD:0022529,GARD:0020180,,Rare infertility +GARD:0020181,GARD:0022536,GARD:0020180,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020181,GARD:0022514,GARD:0020180,,Rare gynecologic or obstetric disease +GARD:0020181,GARD:0022513,GARD:0020180,,Rare developmental defect during embryogenesis +GARD:0020182,GARD:0022529,GARD:0020180,,Rare infertility +GARD:0020182,GARD:0022513,GARD:0020180,,Rare developmental defect during embryogenesis +GARD:0020182,GARD:0022532,GARD:0020180,,Rare urogenital disease +GARD:0020182,GARD:0022514,GARD:0020180,,Rare gynecologic or obstetric disease +GARD:0020182,GARD:0022536,GARD:0020180,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020183,GARD:0022513,GARD:0020171,GARD:0020179,Rare developmental defect during embryogenesis +GARD:0020183,GARD:0022513,GARD:0020171,GARD:0020176,Rare developmental defect during embryogenesis +GARD:0020183,GARD:0022536,GARD:0020171,GARD:0020176,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020183,GARD:0022532,GARD:0020171,GARD:0020176,Rare urogenital disease +GARD:0020183,GARD:0022532,GARD:0020171,GARD:0020179,Rare urogenital disease +GARD:0020183,GARD:0022514,GARD:0020171,GARD:0020179,Rare gynecologic or obstetric disease +GARD:0020183,GARD:0022514,GARD:0020171,GARD:0020176,Rare gynecologic or obstetric disease +GARD:0020183,GARD:0022536,GARD:0020171,GARD:0020179,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020184,GARD:0022536,GARD:0020171,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020184,GARD:0022514,GARD:0020171,,Rare gynecologic or obstetric disease +GARD:0020184,GARD:0022513,GARD:0020171,,Rare developmental defect during embryogenesis +GARD:0020184,GARD:0022532,GARD:0020171,,Rare urogenital disease +GARD:0020185,GARD:0022513,GARD:0020171,,Rare developmental defect during embryogenesis +GARD:0020185,GARD:0022532,GARD:0020171,,Rare urogenital disease +GARD:0020185,GARD:0022514,GARD:0020171,,Rare gynecologic or obstetric disease +GARD:0020185,GARD:0022529,GARD:0021684,,Rare infertility +GARD:0020185,GARD:0022536,GARD:0020171,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020186,GARD:0022513,GARD:0020171,,Rare developmental defect during embryogenesis +GARD:0020186,GARD:0022514,GARD:0020171,,Rare gynecologic or obstetric disease +GARD:0020186,GARD:0022529,GARD:0021684,,Rare infertility +GARD:0020186,GARD:0022536,GARD:0020171,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020186,GARD:0022532,GARD:0020171,,Rare urogenital disease +GARD:0020187,GARD:0022514,GARD:0020170,GARD:0003086,Rare gynecologic or obstetric disease +GARD:0020187,GARD:0022514,GARD:0020170,GARD:0002908,Rare gynecologic or obstetric disease +GARD:0020187,GARD:0022514,GARD:0020170,GARD:0002594,Rare gynecologic or obstetric disease +GARD:0020187,GARD:0022514,GARD:0020170,GARD:0018782,Rare gynecologic or obstetric disease +GARD:0020187,GARD:0022514,GARD:0020170,GARD:0003432,Rare gynecologic or obstetric disease +GARD:0020187,GARD:0022514,GARD:0020170,GARD:0001910,Rare gynecologic or obstetric disease +GARD:0020187,GARD:0022514,GARD:0020170,GARD:0001626,Rare gynecologic or obstetric disease +GARD:0020188,GARD:0022529,GARD:0019397,GARD:0018867,Rare infertility +GARD:0020188,GARD:0022532,GARD:0020251,GARD:0019347,Rare urogenital disease +GARD:0020188,GARD:0022536,GARD:0020251,GARD:0019347,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020188,GARD:0022536,GARD:0020251,GARD:0018867,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020188,GARD:0022529,GARD:0019397,GARD:0020189,Rare infertility +GARD:0020188,GARD:0022532,GARD:0020251,GARD:0018867,Rare urogenital disease +GARD:0020188,GARD:0022513,GARD:0020251,GARD:0018867,Rare developmental defect during embryogenesis +GARD:0020188,GARD:0022513,GARD:0020251,GARD:0019347,Rare developmental defect during embryogenesis +GARD:0020188,GARD:0022514,GARD:0022514,GARD:0018867,Rare gynecologic or obstetric disease +GARD:0020188,GARD:0022514,GARD:0022514,GARD:0020189,Rare gynecologic or obstetric disease +GARD:0020188,GARD:0022536,GARD:0020251,GARD:0020189,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020188,GARD:0022513,GARD:0020251,GARD:0020189,Rare developmental defect during embryogenesis +GARD:0020188,GARD:0022529,GARD:0019397,GARD:0019347,Rare infertility +GARD:0020188,GARD:0022514,GARD:0022514,GARD:0019347,Rare gynecologic or obstetric disease +GARD:0020188,GARD:0022532,GARD:0020251,GARD:0020189,Rare urogenital disease +GARD:0020189,GARD:0022513,GARD:0020188,GARD:0020191,Rare developmental defect during embryogenesis +GARD:0020189,GARD:0022514,GARD:0020188,GARD:0020191,Rare gynecologic or obstetric disease +GARD:0020189,GARD:0022532,GARD:0020188,GARD:0020190,Rare urogenital disease +GARD:0020189,GARD:0022536,GARD:0020188,GARD:0020190,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020189,GARD:0022529,GARD:0020188,GARD:0020191,Rare infertility +GARD:0020189,GARD:0022529,GARD:0020188,GARD:0020190,Rare infertility +GARD:0020189,GARD:0022532,GARD:0020188,GARD:0020191,Rare urogenital disease +GARD:0020189,GARD:0022513,GARD:0020188,GARD:0020190,Rare developmental defect during embryogenesis +GARD:0020189,GARD:0022536,GARD:0020188,GARD:0020191,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020189,GARD:0022514,GARD:0020188,GARD:0020190,Rare gynecologic or obstetric disease +GARD:0020190,GARD:0022513,GARD:0020189,,Rare developmental defect during embryogenesis +GARD:0020190,GARD:0022514,GARD:0020189,,Rare gynecologic or obstetric disease +GARD:0020190,GARD:0022536,GARD:0020189,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020190,GARD:0022529,GARD:0020189,,Rare infertility +GARD:0020190,GARD:0022532,GARD:0020189,,Rare urogenital disease +GARD:0020191,GARD:0022513,GARD:0020189,,Rare developmental defect during embryogenesis +GARD:0020191,GARD:0022536,GARD:0020189,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020191,GARD:0022514,GARD:0020189,,Rare gynecologic or obstetric disease +GARD:0020191,GARD:0022532,GARD:0020189,,Rare urogenital disease +GARD:0020191,GARD:0022529,GARD:0020189,,Rare infertility +GARD:0020192,GARD:0022514,GARD:0022514,GARD:0020194,Rare gynecologic or obstetric disease +GARD:0020192,GARD:0022514,GARD:0022514,GARD:0020193,Rare gynecologic or obstetric disease +GARD:0020193,GARD:0022514,GARD:0020192,GARD:0009450,Rare gynecologic or obstetric disease +GARD:0020193,GARD:0022514,GARD:0020192,GARD:0020195,Rare gynecologic or obstetric disease +GARD:0020193,GARD:0022514,GARD:0020192,GARD:0002259,Rare gynecologic or obstetric disease +GARD:0020193,GARD:0022514,GARD:0020192,GARD:0017180,Rare gynecologic or obstetric disease +GARD:0020194,GARD:0022514,GARD:0020192,GARD:0009489,Rare gynecologic or obstetric disease +GARD:0020194,GARD:0022514,GARD:0020192,GARD:0020196,Rare gynecologic or obstetric disease +GARD:0020194,GARD:0022514,GARD:0020192,GARD:0000118,Rare gynecologic or obstetric disease +GARD:0020194,GARD:0022514,GARD:0020192,GARD:0003856,Rare gynecologic or obstetric disease +GARD:0020194,GARD:0022514,GARD:0020192,GARD:0000159,Rare gynecologic or obstetric disease +GARD:0020194,GARD:0022514,GARD:0020192,GARD:0010051,Rare gynecologic or obstetric disease +GARD:0020195,GARD:0022514,GARD:0020193,,Rare gynecologic or obstetric disease +GARD:0020196,GARD:0022514,GARD:0020194,GARD:0007412,Rare gynecologic or obstetric disease +GARD:0020196,GARD:0022514,GARD:0020194,GARD:0000428,Rare gynecologic or obstetric disease +GARD:0020197,GARD:0022514,GARD:0022514,GARD:0020199,Rare gynecologic or obstetric disease +GARD:0020197,GARD:0022514,GARD:0022514,GARD:0020198,Rare gynecologic or obstetric disease +GARD:0020197,GARD:0022514,GARD:0022514,GARD:0020207,Rare gynecologic or obstetric disease +GARD:0020197,GARD:0022514,GARD:0022514,GARD:0019886,Rare gynecologic or obstetric disease +GARD:0020198,GARD:0022514,GARD:0020197,GARD:0018863,Rare gynecologic or obstetric disease +GARD:0020199,GARD:0022514,GARD:0020197,GARD:0005853,Rare gynecologic or obstetric disease +GARD:0020199,GARD:0022514,GARD:0020197,GARD:0019037,Rare gynecologic or obstetric disease +GARD:0020200,GARD:0022514,GARD:0022514,GARD:0009882,Rare gynecologic or obstetric disease +GARD:0020200,GARD:0022514,GARD:0022514,GARD:0020135,Rare gynecologic or obstetric disease +GARD:0020200,GARD:0022514,GARD:0022514,GARD:0019293,Rare gynecologic or obstetric disease +GARD:0020200,GARD:0022514,GARD:0022514,GARD:0016548,Rare gynecologic or obstetric disease +GARD:0020200,GARD:0022514,GARD:0022514,GARD:0022017,Rare gynecologic or obstetric disease +GARD:0020200,GARD:0022514,GARD:0022514,GARD:0019294,Rare gynecologic or obstetric disease +GARD:0020200,GARD:0022514,GARD:0022514,GARD:0021807,Rare gynecologic or obstetric disease +GARD:0020201,GARD:0022535,GARD:0019407,GARD:0007295,Rare neoplastic disease +GARD:0020201,GARD:0022514,GARD:0019407,GARD:0019363,Rare gynecologic or obstetric disease +GARD:0020201,GARD:0022514,GARD:0019407,GARD:0007295,Rare gynecologic or obstetric disease +GARD:0020201,GARD:0022535,GARD:0019407,GARD:0019363,Rare neoplastic disease +GARD:0020201,GARD:0022535,GARD:0019407,GARD:0020204,Rare neoplastic disease +GARD:0020201,GARD:0022514,GARD:0019407,GARD:0020204,Rare gynecologic or obstetric disease +GARD:0020201,GARD:0022535,GARD:0019407,GARD:0020203,Rare neoplastic disease +GARD:0020201,GARD:0022514,GARD:0019407,GARD:0020203,Rare gynecologic or obstetric disease +GARD:0020202,GARD:0022536,GARD:0019706,GARD:0020736,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020202,GARD:0022535,GARD:0019706,GARD:0020736,Rare neoplastic disease +GARD:0020203,GARD:0022535,GARD:0020201,,Rare neoplastic disease +GARD:0020203,GARD:0022514,GARD:0020201,,Rare gynecologic or obstetric disease +GARD:0020204,GARD:0022535,GARD:0020201,,Rare neoplastic disease +GARD:0020204,GARD:0022514,GARD:0020201,,Rare gynecologic or obstetric disease +GARD:0020205,GARD:0022514,GARD:0019407,GARD:0012772,Rare gynecologic or obstetric disease +GARD:0020205,GARD:0022514,GARD:0019407,GARD:0012775,Rare gynecologic or obstetric disease +GARD:0020205,GARD:0022535,GARD:0019407,GARD:0012772,Rare neoplastic disease +GARD:0020205,GARD:0022535,GARD:0019407,GARD:0012775,Rare neoplastic disease +GARD:0020206,GARD:0022535,GARD:0012775,,Rare neoplastic disease +GARD:0020206,GARD:0022514,GARD:0012775,,Rare gynecologic or obstetric disease +GARD:0020207,GARD:0022514,GARD:0020197,GARD:0016668,Rare gynecologic or obstetric disease +GARD:0020208,GARD:0022514,GARD:0019407,GARD:0019876,Rare gynecologic or obstetric disease +GARD:0020208,GARD:0022514,GARD:0019407,GARD:0020347,Rare gynecologic or obstetric disease +GARD:0020208,GARD:0022535,GARD:0019407,GARD:0009348,Rare neoplastic disease +GARD:0020208,GARD:0022535,GARD:0019407,GARD:0020347,Rare neoplastic disease +GARD:0020208,GARD:0022535,GARD:0019407,GARD:0019876,Rare neoplastic disease +GARD:0020208,GARD:0022535,GARD:0019407,GARD:0009349,Rare neoplastic disease +GARD:0020208,GARD:0022514,GARD:0019407,GARD:0009349,Rare gynecologic or obstetric disease +GARD:0020208,GARD:0022535,GARD:0019407,GARD:0020348,Rare neoplastic disease +GARD:0020208,GARD:0022514,GARD:0019407,GARD:0009348,Rare gynecologic or obstetric disease +GARD:0020208,GARD:0022514,GARD:0019407,GARD:0020348,Rare gynecologic or obstetric disease +GARD:0020209,GARD:0022531,GARD:0018936,GARD:0010290,Rare genetic disease +GARD:0020209,GARD:0022531,GARD:0018936,GARD:0004984,Rare genetic disease +GARD:0020209,GARD:0022513,GARD:0019909,GARD:0008717,Rare developmental defect during embryogenesis +GARD:0020209,GARD:0022526,GARD:0019909,GARD:0018909,Rare odontologic disease +GARD:0020209,GARD:0022531,GARD:0018936,GARD:0018909,Rare genetic disease +GARD:0020209,GARD:0022526,GARD:0019909,GARD:0004984,Rare odontologic disease +GARD:0020209,GARD:0022513,GARD:0019909,GARD:0018909,Rare developmental defect during embryogenesis +GARD:0020209,GARD:0022526,GARD:0019909,GARD:0008717,Rare odontologic disease +GARD:0020209,GARD:0022513,GARD:0019909,GARD:0004984,Rare developmental defect during embryogenesis +GARD:0020209,GARD:0022531,GARD:0018936,GARD:0008717,Rare genetic disease +GARD:0020209,GARD:0022513,GARD:0019909,GARD:0010290,Rare developmental defect during embryogenesis +GARD:0020209,GARD:0022526,GARD:0019909,GARD:0010290,Rare odontologic disease +GARD:0020211,GARD:0022518,GARD:0022518,GARD:0001481,Rare surgical thoracic disease +GARD:0020211,GARD:0022518,GARD:0022518,GARD:0005012,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0002088,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0010109,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0010354,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0007359,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0006227,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0021978,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0007896,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0009835,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0000713,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0002397,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0008507,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0006810,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0001899,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0008421,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0003086,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0007649,Rare surgical thoracic disease +GARD:0020212,GARD:0022518,GARD:0022518,GARD:0022193,Rare surgical thoracic disease +GARD:0020213,GARD:0022535,GARD:0019403,GARD:0006383,Rare neoplastic disease +GARD:0020213,GARD:0022516,GARD:0019786,GARD:0022058,Rare gastroenterologic disease +GARD:0020213,GARD:0022516,GARD:0019786,GARD:0006383,Rare gastroenterologic disease +GARD:0020213,GARD:0022516,GARD:0019786,GARD:0018857,Rare gastroenterologic disease +GARD:0020213,GARD:0022535,GARD:0019403,GARD:0018857,Rare neoplastic disease +GARD:0020213,GARD:0022535,GARD:0019403,GARD:0022058,Rare neoplastic disease +GARD:0020214,GARD:0022521,GARD:0019796,GARD:0021818,Rare endocrine disease +GARD:0020214,GARD:0022531,GARD:0020312,GARD:0021818,Rare genetic disease +GARD:0020214,GARD:0022521,GARD:0019796,GARD:0000453,Rare endocrine disease +GARD:0020214,GARD:0022521,GARD:0019796,GARD:0012603,Rare endocrine disease +GARD:0020214,GARD:0022521,GARD:0019796,GARD:0021080,Rare endocrine disease +GARD:0020214,GARD:0022531,GARD:0020312,GARD:0012601,Rare genetic disease +GARD:0020214,GARD:0022531,GARD:0020312,GARD:0000226,Rare genetic disease +GARD:0020214,GARD:0022531,GARD:0020312,GARD:0003008,Rare genetic disease +GARD:0020214,GARD:0022531,GARD:0020312,GARD:0003009,Rare genetic disease +GARD:0020214,GARD:0022531,GARD:0020312,GARD:0021080,Rare genetic disease +GARD:0020214,GARD:0022521,GARD:0019796,GARD:0017728,Rare endocrine disease +GARD:0020214,GARD:0022521,GARD:0019796,GARD:0006885,Rare endocrine disease +GARD:0020214,GARD:0022521,GARD:0019796,GARD:0012601,Rare endocrine disease +GARD:0020214,GARD:0022521,GARD:0019796,GARD:0013388,Rare endocrine disease +GARD:0020214,GARD:0022521,GARD:0019796,GARD:0000226,Rare endocrine disease +GARD:0020214,GARD:0022531,GARD:0020312,GARD:0018868,Rare genetic disease +GARD:0020214,GARD:0022531,GARD:0020312,GARD:0017728,Rare genetic disease +GARD:0020214,GARD:0022521,GARD:0019796,GARD:0003008,Rare endocrine disease +GARD:0020214,GARD:0022531,GARD:0020312,GARD:0006885,Rare genetic disease +GARD:0020214,GARD:0022521,GARD:0019796,GARD:0007633,Rare endocrine disease +GARD:0020214,GARD:0022521,GARD:0019796,GARD:0003009,Rare endocrine disease +GARD:0020214,GARD:0022521,GARD:0019796,GARD:0018868,Rare endocrine disease +GARD:0020214,GARD:0022531,GARD:0020312,GARD:0013388,Rare genetic disease +GARD:0020214,GARD:0022531,GARD:0020312,GARD:0000453,Rare genetic disease +GARD:0020214,GARD:0022531,GARD:0020312,GARD:0007633,Rare genetic disease +GARD:0020215,GARD:0022521,GARD:0019796,GARD:0007898,Rare endocrine disease +GARD:0020215,GARD:0022521,GARD:0019796,GARD:0009811,Rare endocrine disease +GARD:0020215,GARD:0022521,GARD:0019796,GARD:0017683,Rare endocrine disease +GARD:0020215,GARD:0022521,GARD:0019796,GARD:0010980,Rare endocrine disease +GARD:0020215,GARD:0022521,GARD:0019796,GARD:0010239,Rare endocrine disease +GARD:0020216,GARD:0022521,GARD:0019796,GARD:0003697,Rare endocrine disease +GARD:0020216,GARD:0022521,GARD:0019796,GARD:0017620,Rare endocrine disease +GARD:0020216,GARD:0022521,GARD:0019796,GARD:0022238,Rare endocrine disease +GARD:0020216,GARD:0022521,GARD:0019796,GARD:0005787,Rare endocrine disease +GARD:0020216,GARD:0022521,GARD:0019796,GARD:0010221,Rare endocrine disease +GARD:0020217,GARD:0022521,GARD:0019796,GARD:0003881,Rare endocrine disease +GARD:0020217,GARD:0022521,GARD:0019796,GARD:0005589,Rare endocrine disease +GARD:0020217,GARD:0022521,GARD:0019796,GARD:0017381,Rare endocrine disease +GARD:0020217,GARD:0022521,GARD:0019796,GARD:0009210,Rare endocrine disease +GARD:0020217,GARD:0022521,GARD:0019796,GARD:0017787,Rare endocrine disease +GARD:0020217,GARD:0022521,GARD:0019796,GARD:0005023,Rare endocrine disease +GARD:0020217,GARD:0022521,GARD:0019796,GARD:0006632,Rare endocrine disease +GARD:0020217,GARD:0022521,GARD:0019796,GARD:0008509,Rare endocrine disease +GARD:0020217,GARD:0022521,GARD:0019796,GARD:0000347,Rare endocrine disease +GARD:0020217,GARD:0022521,GARD:0019796,GARD:0017768,Rare endocrine disease +GARD:0020217,GARD:0022521,GARD:0019796,GARD:0004003,Rare endocrine disease +GARD:0020217,GARD:0022521,GARD:0019796,GARD:0005592,Rare endocrine disease +GARD:0020218,GARD:0022521,GARD:0022521,GARD:0022191,Rare endocrine disease +GARD:0020218,GARD:0022521,GARD:0022521,GARD:0021850,Rare endocrine disease +GARD:0020218,GARD:0022521,GARD:0022521,GARD:0017370,Rare endocrine disease +GARD:0020218,GARD:0022521,GARD:0022521,GARD:0021381,Rare endocrine disease +GARD:0020218,GARD:0022521,GARD:0022521,GARD:0017634,Rare endocrine disease +GARD:0020218,GARD:0022521,GARD:0022521,GARD:0019801,Rare endocrine disease +GARD:0020218,GARD:0022521,GARD:0022521,GARD:0006276,Rare endocrine disease +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0021641,Rare genetic disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0021641,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0001234,Rare genetic disease +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0000944,Rare genetic disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0003698,Rare endocrine disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0021641,Rare endocrine disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0006866,Rare endocrine disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0001234,Rare endocrine disease +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0003698,Rare genetic disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0005575,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0003698,Rare infertility +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0003314,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0016987,Rare infertility +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0016987,Rare endocrine disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0001234,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0005575,Rare endocrine disease +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0006866,Rare genetic disease +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0000324,Rare genetic disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0000029,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0012635,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0000029,Rare infertility +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0000324,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0016771,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0005575,Rare genetic disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0000944,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0018767,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0003406,Rare infertility +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0012635,Rare genetic disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0021174,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0018767,Rare endocrine disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0016590,Rare endocrine disease +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0003406,Rare genetic disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0016562,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0016771,Rare endocrine disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0021174,Rare endocrine disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0006866,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0003314,Rare endocrine disease +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0012635,Rare infertility +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0021641,Rare infertility +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0018767,Rare genetic disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0003406,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0000944,Rare infertility +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0016771,Rare infertility +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0006866,Rare infertility +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0016987,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0016562,Rare genetic disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0005592,Rare endocrine disease +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0005592,Rare infertility +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0003314,Rare infertility +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0018767,Rare infertility +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0005592,Rare genetic disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0000944,Rare endocrine disease +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0016590,Rare infertility +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0016590,Rare genetic disease +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0003314,Rare genetic disease +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0021174,Rare infertility +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0000324,Rare endocrine disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0003698,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0000029,Rare genetic disease +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0001234,Rare infertility +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0000324,Rare infertility +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0000029,Rare endocrine disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0017787,Rare endocrine disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0017787,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0016771,Rare genetic disease +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0021174,Rare genetic disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0016590,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0012635,Rare endocrine disease +GARD:0020219,GARD:0022514,GARD:0020135,GARD:0005592,Rare gynecologic or obstetric disease +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0005575,Rare infertility +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0017787,Rare infertility +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0016562,Rare endocrine disease +GARD:0020219,GARD:0022529,GARD:0020135,GARD:0016562,Rare infertility +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0016987,Rare genetic disease +GARD:0020219,GARD:0022531,GARD:0020135,GARD:0017787,Rare genetic disease +GARD:0020219,GARD:0022521,GARD:0020135,GARD:0003406,Rare endocrine disease +GARD:0020220,GARD:0022529,GARD:0020135,GARD:0017083,Rare infertility +GARD:0020220,GARD:0022531,GARD:0021679,GARD:0000555,Rare genetic disease +GARD:0020220,GARD:0022521,GARD:0020135,GARD:0017083,Rare endocrine disease +GARD:0020220,GARD:0022529,GARD:0020135,GARD:0016839,Rare infertility +GARD:0020220,GARD:0022529,GARD:0020135,GARD:0000555,Rare infertility +GARD:0020220,GARD:0022531,GARD:0020135,GARD:0016839,Rare genetic disease +GARD:0020220,GARD:0022529,GARD:0020135,GARD:0016689,Rare infertility +GARD:0020220,GARD:0022529,GARD:0021679,GARD:0016689,Rare infertility +GARD:0020220,GARD:0022531,GARD:0021679,GARD:0010602,Rare genetic disease +GARD:0020220,GARD:0022514,GARD:0020135,GARD:0016839,Rare gynecologic or obstetric disease +GARD:0020220,GARD:0022529,GARD:0021679,GARD:0017083,Rare infertility +GARD:0020220,GARD:0022531,GARD:0021679,GARD:0016839,Rare genetic disease +GARD:0020220,GARD:0022521,GARD:0020135,GARD:0010602,Rare endocrine disease +GARD:0020220,GARD:0022531,GARD:0021679,GARD:0017083,Rare genetic disease +GARD:0020220,GARD:0022531,GARD:0020135,GARD:0010602,Rare genetic disease +GARD:0020220,GARD:0022514,GARD:0020135,GARD:0010602,Rare gynecologic or obstetric disease +GARD:0020220,GARD:0022529,GARD:0020135,GARD:0010602,Rare infertility +GARD:0020220,GARD:0022531,GARD:0021679,GARD:0015020,Rare genetic disease +GARD:0020220,GARD:0022521,GARD:0020135,GARD:0015020,Rare endocrine disease +GARD:0020220,GARD:0022531,GARD:0020135,GARD:0017083,Rare genetic disease +GARD:0020220,GARD:0022529,GARD:0021679,GARD:0016839,Rare infertility +GARD:0020220,GARD:0022529,GARD:0020135,GARD:0013015,Rare infertility +GARD:0020220,GARD:0022521,GARD:0020135,GARD:0000555,Rare endocrine disease +GARD:0020220,GARD:0022521,GARD:0020135,GARD:0016689,Rare endocrine disease +GARD:0020220,GARD:0022529,GARD:0021679,GARD:0000555,Rare infertility +GARD:0020220,GARD:0022521,GARD:0020135,GARD:0013015,Rare endocrine disease +GARD:0020220,GARD:0022531,GARD:0020135,GARD:0016689,Rare genetic disease +GARD:0020220,GARD:0022514,GARD:0020135,GARD:0000555,Rare gynecologic or obstetric disease +GARD:0020220,GARD:0022514,GARD:0020135,GARD:0016689,Rare gynecologic or obstetric disease +GARD:0020220,GARD:0022529,GARD:0021679,GARD:0015020,Rare infertility +GARD:0020220,GARD:0022531,GARD:0020135,GARD:0000555,Rare genetic disease +GARD:0020220,GARD:0022514,GARD:0020135,GARD:0013015,Rare gynecologic or obstetric disease +GARD:0020220,GARD:0022514,GARD:0020135,GARD:0015020,Rare gynecologic or obstetric disease +GARD:0020220,GARD:0022531,GARD:0021679,GARD:0016689,Rare genetic disease +GARD:0020220,GARD:0022531,GARD:0020135,GARD:0013015,Rare genetic disease +GARD:0020220,GARD:0022529,GARD:0021679,GARD:0013015,Rare infertility +GARD:0020220,GARD:0022529,GARD:0020135,GARD:0015020,Rare infertility +GARD:0020220,GARD:0022529,GARD:0021679,GARD:0010602,Rare infertility +GARD:0020220,GARD:0022531,GARD:0020135,GARD:0015020,Rare genetic disease +GARD:0020220,GARD:0022531,GARD:0021679,GARD:0013015,Rare genetic disease +GARD:0020220,GARD:0022514,GARD:0020135,GARD:0017083,Rare gynecologic or obstetric disease +GARD:0020220,GARD:0022521,GARD:0020135,GARD:0016839,Rare endocrine disease +GARD:0020221,GARD:0022521,GARD:0019799,GARD:0001487,Rare endocrine disease +GARD:0020221,GARD:0022531,GARD:0020314,GARD:0001487,Rare genetic disease +GARD:0020221,GARD:0022521,GARD:0019799,GARD:0020136,Rare endocrine disease +GARD:0020222,GARD:0022531,GARD:0020314,GARD:0016913,Rare genetic disease +GARD:0020222,GARD:0022531,GARD:0020314,GARD:0002858,Rare genetic disease +GARD:0020222,GARD:0022521,GARD:0019799,GARD:0022190,Rare endocrine disease 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+GARD:0020223,GARD:0022521,GARD:0020224,GARD:0022366,Rare endocrine disease +GARD:0020223,GARD:0022531,GARD:0020407,GARD:0010299,Rare genetic disease +GARD:0020223,GARD:0022531,GARD:0020407,GARD:0007343,Rare genetic disease +GARD:0020223,GARD:0022531,GARD:0020407,GARD:0006817,Rare genetic disease +GARD:0020223,GARD:0022521,GARD:0020224,GARD:0006817,Rare endocrine disease +GARD:0020223,GARD:0022531,GARD:0020407,GARD:0022366,Rare genetic disease +GARD:0020223,GARD:0022531,GARD:0020407,GARD:0016594,Rare genetic disease +GARD:0020224,GARD:0022521,GARD:0018893,GARD:0020223,Rare endocrine disease +GARD:0020224,GARD:0022521,GARD:0018893,GARD:0002910,Rare endocrine disease +GARD:0020224,GARD:0022521,GARD:0018893,GARD:0008466,Rare endocrine disease +GARD:0020224,GARD:0022521,GARD:0018893,GARD:0010758,Rare endocrine disease +GARD:0020224,GARD:0022521,GARD:0018893,GARD:0018824,Rare endocrine disease +GARD:0020224,GARD:0022521,GARD:0018893,GARD:0019922,Rare endocrine disease +GARD:0020225,GARD:0022521,GARD:0018893,GARD:0007329,Rare endocrine disease +GARD:0020225,GARD:0022521,GARD:0018893,GARD:0002838,Rare endocrine disease +GARD:0020225,GARD:0022521,GARD:0018893,GARD:0002837,Rare endocrine disease +GARD:0020226,GARD:0022521,GARD:0019798,GARD:0001467,Rare endocrine disease +GARD:0020226,GARD:0022531,GARD:0020316,GARD:0001467,Rare genetic disease +GARD:0020226,GARD:0022531,GARD:0020316,GARD:0013108,Rare genetic disease +GARD:0020226,GARD:0022521,GARD:0019798,GARD:0002499,Rare endocrine disease +GARD:0020226,GARD:0022521,GARD:0019798,GARD:0013108,Rare endocrine disease +GARD:0020226,GARD:0022521,GARD:0019798,GARD:0009882,Rare endocrine disease +GARD:0020226,GARD:0022531,GARD:0020316,GARD:0009882,Rare genetic disease +GARD:0020226,GARD:0022531,GARD:0020316,GARD:0002499,Rare genetic disease +GARD:0020227,GARD:0022521,GARD:0019798,GARD:0020624,Rare endocrine disease +GARD:0020227,GARD:0022521,GARD:0019798,GARD:0020623,Rare endocrine disease +GARD:0020228,GARD:0022521,GARD:0019798,GARD:0016532,Rare endocrine disease +GARD:0020229,GARD:0022521,GARD:0019797,GARD:0006703,Rare endocrine disease +GARD:0020229,GARD:0022531,GARD:0019797,GARD:0006414,Rare genetic disease +GARD:0020229,GARD:0022508,GARD:0019797,GARD:0021971,Rare inborn errors of metabolism +GARD:0020229,GARD:0022521,GARD:0019797,GARD:0006414,Rare endocrine disease +GARD:0020229,GARD:0022508,GARD:0019797,GARD:0006414,Rare inborn errors of metabolism +GARD:0020229,GARD:0022521,GARD:0019797,GARD:0021971,Rare endocrine disease +GARD:0020229,GARD:0022531,GARD:0019797,GARD:0021971,Rare genetic disease +GARD:0020229,GARD:0022521,GARD:0019797,GARD:0020230,Rare endocrine disease +GARD:0020229,GARD:0022531,GARD:0019797,GARD:0006703,Rare genetic disease +GARD:0020229,GARD:0022508,GARD:0019797,GARD:0006703,Rare inborn errors of metabolism +GARD:0020229,GARD:0022531,GARD:0019797,GARD:0020230,Rare genetic disease +GARD:0020229,GARD:0022508,GARD:0019797,GARD:0020230,Rare inborn errors of metabolism +GARD:0020230,GARD:0022521,GARD:0020229,GARD:0012864,Rare endocrine disease +GARD:0020230,GARD:0022531,GARD:0020229,GARD:0016724,Rare genetic disease +GARD:0020230,GARD:0022531,GARD:0020229,GARD:0012864,Rare genetic disease +GARD:0020230,GARD:0022508,GARD:0020229,GARD:0012864,Rare inborn errors of metabolism +GARD:0020230,GARD:0022508,GARD:0020229,GARD:0016724,Rare inborn errors of metabolism +GARD:0020230,GARD:0022521,GARD:0020229,GARD:0016724,Rare endocrine disease +GARD:0020231,GARD:0022531,GARD:0019797,GARD:0018801,Rare genetic disease +GARD:0020231,GARD:0022508,GARD:0019797,GARD:0018801,Rare inborn errors of metabolism +GARD:0020231,GARD:0022521,GARD:0019797,GARD:0018801,Rare endocrine disease +GARD:0020231,GARD:0022521,GARD:0019797,GARD:0018802,Rare endocrine disease +GARD:0020231,GARD:0022531,GARD:0019797,GARD:0018802,Rare genetic disease +GARD:0020231,GARD:0022508,GARD:0019797,GARD:0018802,Rare inborn errors of metabolism +GARD:0020232,GARD:0022521,GARD:0019797,GARD:0007653,Rare endocrine disease +GARD:0020232,GARD:0022521,GARD:0019797,GARD:0005622,Rare endocrine disease +GARD:0020232,GARD:0022521,GARD:0019797,GARD:0017504,Rare endocrine disease +GARD:0020232,GARD:0022508,GARD:0019797,GARD:0012097,Rare inborn errors of metabolism +GARD:0020232,GARD:0022521,GARD:0019797,GARD:0012097,Rare endocrine disease +GARD:0020232,GARD:0022531,GARD:0019797,GARD:0017504,Rare genetic disease +GARD:0020232,GARD:0022508,GARD:0019797,GARD:0005622,Rare inborn errors of metabolism +GARD:0020232,GARD:0022531,GARD:0019797,GARD:0005622,Rare genetic disease +GARD:0020232,GARD:0022508,GARD:0019797,GARD:0007653,Rare inborn errors of metabolism +GARD:0020232,GARD:0022531,GARD:0019797,GARD:0007653,Rare genetic disease +GARD:0020232,GARD:0022531,GARD:0019797,GARD:0012097,Rare genetic disease +GARD:0020232,GARD:0022508,GARD:0019797,GARD:0017504,Rare inborn errors of metabolism +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0017301,Rare endocrine disease +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0004899,Rare genetic disease +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0005758,Rare infertility +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0005758,Rare endocrine disease +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0017008,Rare endocrine disease +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0003617,Rare genetic disease +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0001078,Rare genetic disease +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0004899,Rare endocrine disease +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0001078,Rare infertility +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0001691,Rare genetic disease +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0002775,Rare endocrine disease +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0000298,Rare genetic disease +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0020054,Rare endocrine disease +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0009728,Rare genetic disease +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0003617,Rare endocrine disease +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0001691,Rare genetic disease +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0003373,Rare genetic disease +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0005592,Rare infertility +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0020054,Rare genetic disease +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0001691,Rare infertility +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0002775,Rare genetic disease +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0010955,Rare endocrine disease +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0004899,Rare genetic disease +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0016588,Rare genetic disease +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0020054,Rare infertility +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0010955,Rare genetic disease +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0017301,Rare genetic disease +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0009728,Rare endocrine disease +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0005592,Rare endocrine disease +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0002775,Rare infertility +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0009811,Rare endocrine disease +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0010955,Rare infertility +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0005758,Rare genetic disease +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0000298,Rare infertility +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0003373,Rare genetic disease +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0001691,Rare endocrine disease +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0016588,Rare infertility +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0016588,Rare endocrine disease +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0017301,Rare infertility +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0001078,Rare endocrine disease +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0005592,Rare genetic disease +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0009728,Rare infertility +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0016588,Rare genetic disease +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0017301,Rare genetic disease +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0020054,Rare genetic disease +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0005592,Rare genetic disease +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0005758,Rare genetic disease +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0003617,Rare genetic disease +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0000298,Rare endocrine disease +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0009811,Rare infertility +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0010955,Rare genetic disease +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0017008,Rare genetic disease +GARD:0020233,GARD:0022521,GARD:0022521,GARD:0003373,Rare endocrine disease +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0009728,Rare genetic disease +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0017008,Rare genetic disease +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0002775,Rare genetic disease +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0003373,Rare infertility +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0017008,Rare infertility +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0009811,Rare genetic disease +GARD:0020233,GARD:0022531,GARD:0021672,GARD:0000298,Rare genetic disease +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0001078,Rare genetic disease +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0003617,Rare infertility +GARD:0020233,GARD:0022529,GARD:0021672,GARD:0004899,Rare infertility +GARD:0020233,GARD:0022531,GARD:0020011,GARD:0009811,Rare genetic disease +GARD:0020234,GARD:0022522,GARD:0019869,GARD:0020058,Rare hematologic disease +GARD:0020234,GARD:0022536,GARD:0022063,GARD:0020058,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020234,GARD:0022522,GARD:0019869,GARD:0018889,Rare hematologic disease +GARD:0020234,GARD:0022536,GARD:0022063,GARD:0018889,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020235,GARD:0022531,GARD:0020318,GARD:0004011,Rare genetic disease +GARD:0020235,GARD:0022522,GARD:0019454,GARD:0002642,Rare hematologic disease +GARD:0020235,GARD:0022522,GARD:0019454,GARD:0016761,Rare hematologic disease +GARD:0020235,GARD:0022522,GARD:0019454,GARD:0019455,Rare hematologic disease +GARD:0020235,GARD:0022531,GARD:0020318,GARD:0016761,Rare genetic disease +GARD:0020235,GARD:0022522,GARD:0019454,GARD:0019458,Rare hematologic disease +GARD:0020235,GARD:0022531,GARD:0020318,GARD:0019458,Rare genetic disease +GARD:0020235,GARD:0022522,GARD:0019454,GARD:0022330,Rare hematologic disease +GARD:0020235,GARD:0022522,GARD:0019454,GARD:0004011,Rare hematologic disease +GARD:0020235,GARD:0022531,GARD:0020318,GARD:0022330,Rare genetic disease +GARD:0020235,GARD:0022531,GARD:0020318,GARD:0002642,Rare genetic disease +GARD:0020235,GARD:0022531,GARD:0020318,GARD:0019455,Rare genetic disease +GARD:0020236,GARD:0022522,GARD:0019454,GARD:0021037,Rare hematologic disease +GARD:0020236,GARD:0022522,GARD:0019454,GARD:0007337,Rare hematologic disease +GARD:0020236,GARD:0022522,GARD:0019454,GARD:0022234,Rare hematologic disease +GARD:0020236,GARD:0022522,GARD:0019454,GARD:0005870,Rare hematologic disease +GARD:0020237,GARD:0022522,GARD:0019468,GARD:0020679,Rare hematologic disease +GARD:0020237,GARD:0022522,GARD:0019468,GARD:0020676,Rare hematologic disease +GARD:0020238,GARD:0022524,GARD:0019483,GARD:0019480,Rare neurologic disease +GARD:0020238,GARD:0022513,GARD:0019483,GARD:0019481,Rare developmental defect during embryogenesis +GARD:0020238,GARD:0022524,GARD:0019483,GARD:0020997,Rare neurologic disease +GARD:0020238,GARD:0022513,GARD:0019483,GARD:0020997,Rare developmental defect during embryogenesis +GARD:0020238,GARD:0022524,GARD:0019483,GARD:0018855,Rare neurologic disease +GARD:0020238,GARD:0022513,GARD:0019483,GARD:0018855,Rare developmental defect during embryogenesis +GARD:0020238,GARD:0022524,GARD:0019483,GARD:0019481,Rare neurologic disease +GARD:0020238,GARD:0022513,GARD:0019483,GARD:0019480,Rare developmental defect during embryogenesis +GARD:0020239,GARD:0022524,GARD:0022524,GARD:0010779,Rare neurologic disease +GARD:0020239,GARD:0022524,GARD:0022524,GARD:0006554,Rare neurologic disease +GARD:0020239,GARD:0022524,GARD:0022524,GARD:0019818,Rare neurologic disease +GARD:0020239,GARD:0022524,GARD:0022524,GARD:0020571,Rare neurologic disease +GARD:0020239,GARD:0022524,GARD:0022524,GARD:0007862,Rare neurologic disease +GARD:0020239,GARD:0022524,GARD:0022524,GARD:0013173,Rare neurologic disease +GARD:0020239,GARD:0022524,GARD:0022524,GARD:0005023,Rare neurologic disease +GARD:0020239,GARD:0022524,GARD:0022524,GARD:0009778,Rare neurologic disease +GARD:0020239,GARD:0022524,GARD:0022524,GARD:0022039,Rare neurologic disease +GARD:0020239,GARD:0022524,GARD:0022524,GARD:0006102,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0004265,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0006122,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0017911,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0021323,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0017523,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0013658,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0019061,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0018023,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0006844,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0010594,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0006035,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0013488,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0013423,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0017990,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0012036,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0006971,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0019062,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0010739,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0016986,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0003971,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0017991,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0005783,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0018846,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0017736,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0010502,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0004891,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0017918,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0006637,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0022246,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0005984,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0010684,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0022305,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0021620,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0022487,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0017863,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0006818,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0021637,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0017806,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0017609,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0021904,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0021560,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0017552,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0007207,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0008331,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0012978,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0021527,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0005758,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0004264,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0009292,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0005040,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0017943,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0018004,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0013264,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0005774,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0017809,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0005786,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0021377,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0021891,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0007079,Rare neurologic disease +GARD:0020240,GARD:0022524,GARD:0022524,GARD:0019484,Rare neurologic disease +GARD:0020241,GARD:0022524,GARD:0020086,GARD:0004235,Rare neurologic disease +GARD:0020241,GARD:0022524,GARD:0020086,GARD:0007887,Rare neurologic disease +GARD:0020241,GARD:0022531,GARD:0020086,GARD:0016622,Rare genetic disease +GARD:0020241,GARD:0022531,GARD:0020086,GARD:0004235,Rare genetic disease +GARD:0020241,GARD:0022524,GARD:0020086,GARD:0009255,Rare neurologic disease +GARD:0020241,GARD:0022531,GARD:0020086,GARD:0007887,Rare genetic disease +GARD:0020241,GARD:0022524,GARD:0020086,GARD:0016622,Rare neurologic disease +GARD:0020241,GARD:0022531,GARD:0020086,GARD:0017582,Rare genetic disease +GARD:0020241,GARD:0022524,GARD:0020086,GARD:0021753,Rare neurologic disease +GARD:0020241,GARD:0022531,GARD:0020086,GARD:0009255,Rare genetic disease +GARD:0020241,GARD:0022524,GARD:0020086,GARD:0017582,Rare neurologic disease +GARD:0020241,GARD:0022531,GARD:0020086,GARD:0021753,Rare genetic disease +GARD:0020242,GARD:0022531,GARD:0020086,GARD:0010430,Rare genetic disease +GARD:0020242,GARD:0022531,GARD:0020086,GARD:0009255,Rare genetic disease +GARD:0020242,GARD:0022524,GARD:0020086,GARD:0012919,Rare neurologic disease +GARD:0020242,GARD:0022531,GARD:0020086,GARD:0002173,Rare genetic disease +GARD:0020242,GARD:0022531,GARD:0020086,GARD:0010514,Rare genetic disease +GARD:0020242,GARD:0022524,GARD:0020086,GARD:0009255,Rare neurologic disease +GARD:0020242,GARD:0022524,GARD:0020086,GARD:0002173,Rare neurologic disease +GARD:0020242,GARD:0022524,GARD:0020086,GARD:0010514,Rare neurologic disease +GARD:0020242,GARD:0022531,GARD:0020086,GARD:0012919,Rare genetic disease +GARD:0020242,GARD:0022524,GARD:0020086,GARD:0010430,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0022137,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0020386,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0020417,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0019749,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0002351,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0020416,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0020542,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0020420,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0021826,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0020357,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0020418,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0020419,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0018843,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0020409,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0012713,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0010713,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0020412,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0004228,Rare neurologic disease +GARD:0020243,GARD:0022524,GARD:0019476,GARD:0020543,Rare neurologic disease +GARD:0020244,GARD:0022536,GARD:0022064,GARD:0020934,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020244,GARD:0022517,GARD:0019793,GARD:0020934,Rare respiratory disease +GARD:0020244,GARD:0022536,GARD:0022064,GARD:0020931,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020244,GARD:0022517,GARD:0019793,GARD:0020931,Rare respiratory disease +GARD:0020244,GARD:0022536,GARD:0022064,GARD:0020921,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020244,GARD:0022517,GARD:0019793,GARD:0020921,Rare respiratory disease +GARD:0020245,GARD:0022536,GARD:0020932,GARD:0000867,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020245,GARD:0022517,GARD:0020932,GARD:0000867,Rare respiratory disease +GARD:0020245,GARD:0022536,GARD:0020932,GARD:0005852,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020245,GARD:0022517,GARD:0020932,GARD:0005852,Rare respiratory disease +GARD:0020246,GARD:0022536,GARD:0020937,GARD:0000519,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020246,GARD:0022517,GARD:0020937,GARD:0000519,Rare respiratory disease +GARD:0020246,GARD:0022536,GARD:0020937,GARD:0001130,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020246,GARD:0022517,GARD:0020937,GARD:0001130,Rare respiratory disease +GARD:0020247,GARD:0022536,GARD:0020939,GARD:0007051,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020247,GARD:0022517,GARD:0020939,GARD:0007051,Rare respiratory disease +GARD:0020248,GARD:0022517,GARD:0019385,GARD:0005184,Rare respiratory disease +GARD:0020248,GARD:0022517,GARD:0019385,GARD:0007693,Rare respiratory disease +GARD:0020248,GARD:0022517,GARD:0019385,GARD:0010612,Rare respiratory disease +GARD:0020248,GARD:0022517,GARD:0019385,GARD:0000816,Rare respiratory disease +GARD:0020248,GARD:0022517,GARD:0019385,GARD:0005180,Rare respiratory disease +GARD:0020248,GARD:0022517,GARD:0019385,GARD:0009634,Rare respiratory disease +GARD:0020248,GARD:0022517,GARD:0019385,GARD:0018726,Rare respiratory disease +GARD:0020248,GARD:0022517,GARD:0019385,GARD:0000512,Rare respiratory disease +GARD:0020248,GARD:0022517,GARD:0019385,GARD:0017818,Rare respiratory disease +GARD:0020248,GARD:0022517,GARD:0019385,GARD:0003227,Rare respiratory disease +GARD:0020248,GARD:0022517,GARD:0019385,GARD:0000713,Rare respiratory disease +GARD:0020248,GARD:0022517,GARD:0019385,GARD:0018921,Rare respiratory disease +GARD:0020248,GARD:0022517,GARD:0019385,GARD:0005012,Rare respiratory disease +GARD:0020248,GARD:0022517,GARD:0019385,GARD:0001551,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0018680,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0021895,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0003378,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0010515,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0021731,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0002104,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0001475,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0009119,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0004584,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0003188,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0002427,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0005233,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0004598,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0005184,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0004586,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0000741,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0019642,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0006626,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0005962,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0009900,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0004593,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0016591,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0001025,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0018772,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0000368,Rare respiratory disease +GARD:0020249,GARD:0022517,GARD:0019385,GARD:0000713,Rare respiratory disease +GARD:0020250,GARD:0022535,GARD:0019401,GARD:0021549,Rare neoplastic disease +GARD:0020250,GARD:0022532,GARD:0022532,GARD:0019402,Rare urogenital disease +GARD:0020250,GARD:0022535,GARD:0019401,GARD:0009366,Rare neoplastic disease +GARD:0020250,GARD:0022535,GARD:0019401,GARD:0019402,Rare neoplastic disease +GARD:0020250,GARD:0022532,GARD:0022532,GARD:0021549,Rare urogenital disease +GARD:0020250,GARD:0022532,GARD:0022532,GARD:0009366,Rare urogenital disease +GARD:0020251,GARD:0022513,GARD:0020063,GARD:0020188,Rare developmental defect during embryogenesis +GARD:0020251,GARD:0022513,GARD:0020063,GARD:0022434,Rare developmental defect during embryogenesis +GARD:0020251,GARD:0022532,GARD:0020063,GARD:0020171,Rare urogenital disease +GARD:0020251,GARD:0022536,GARD:0020063,GARD:0022434,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020251,GARD:0022532,GARD:0020063,GARD:0020188,Rare urogenital disease +GARD:0020251,GARD:0022536,GARD:0020063,GARD:0020171,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020251,GARD:0022532,GARD:0020063,GARD:0022434,Rare urogenital disease +GARD:0020251,GARD:0022513,GARD:0020063,GARD:0020171,Rare developmental defect during embryogenesis +GARD:0020251,GARD:0022536,GARD:0020063,GARD:0020188,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020252,GARD:0022532,GARD:0020063,GARD:0019292,Rare urogenital disease +GARD:0020252,GARD:0022536,GARD:0020063,GARD:0019292,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020252,GARD:0022532,GARD:0020063,GARD:0004272,Rare urogenital disease +GARD:0020252,GARD:0022513,GARD:0020063,GARD:0019292,Rare developmental defect during embryogenesis +GARD:0020252,GARD:0022536,GARD:0020063,GARD:0005461,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020252,GARD:0022513,GARD:0020063,GARD:0022011,Rare developmental defect during embryogenesis +GARD:0020252,GARD:0022536,GARD:0020063,GARD:0004273,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020252,GARD:0022536,GARD:0020063,GARD:0001872,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020252,GARD:0022513,GARD:0020063,GARD:0005461,Rare developmental defect during embryogenesis +GARD:0020252,GARD:0022532,GARD:0020063,GARD:0022011,Rare urogenital disease +GARD:0020252,GARD:0022513,GARD:0020063,GARD:0001872,Rare developmental defect during embryogenesis +GARD:0020252,GARD:0022532,GARD:0020063,GARD:0005461,Rare urogenital disease +GARD:0020252,GARD:0022513,GARD:0020063,GARD:0004272,Rare developmental defect during embryogenesis +GARD:0020252,GARD:0022536,GARD:0020063,GARD:0022011,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020252,GARD:0022532,GARD:0020063,GARD:0001872,Rare urogenital disease +GARD:0020252,GARD:0022536,GARD:0020063,GARD:0004272,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020252,GARD:0022513,GARD:0020063,GARD:0004273,Rare developmental defect during embryogenesis +GARD:0020252,GARD:0022536,GARD:0020063,GARD:0016840,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020252,GARD:0022532,GARD:0020063,GARD:0016840,Rare urogenital disease +GARD:0020252,GARD:0022513,GARD:0020063,GARD:0016840,Rare developmental defect during embryogenesis +GARD:0020252,GARD:0022532,GARD:0020063,GARD:0004273,Rare urogenital disease +GARD:0020253,GARD:0022536,GARD:0020063,GARD:0002207,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020253,GARD:0022532,GARD:0020063,GARD:0001975,Rare urogenital disease +GARD:0020253,GARD:0022532,GARD:0020063,GARD:0002207,Rare urogenital disease +GARD:0020253,GARD:0022536,GARD:0020063,GARD:0017323,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020253,GARD:0022513,GARD:0020063,GARD:0021814,Rare developmental defect during embryogenesis +GARD:0020253,GARD:0022532,GARD:0020063,GARD:0021804,Rare urogenital disease +GARD:0020253,GARD:0022513,GARD:0020063,GARD:0017323,Rare developmental defect during embryogenesis +GARD:0020253,GARD:0022536,GARD:0020063,GARD:0018700,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020253,GARD:0022532,GARD:0020063,GARD:0017323,Rare urogenital disease +GARD:0020253,GARD:0022536,GARD:0020063,GARD:0001975,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020253,GARD:0022513,GARD:0020063,GARD:0002207,Rare developmental defect during embryogenesis +GARD:0020253,GARD:0022532,GARD:0020063,GARD:0018700,Rare urogenital disease +GARD:0020253,GARD:0022536,GARD:0020063,GARD:0021814,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020253,GARD:0022532,GARD:0020063,GARD:0021814,Rare urogenital disease +GARD:0020253,GARD:0022513,GARD:0020063,GARD:0018700,Rare developmental defect during embryogenesis +GARD:0020253,GARD:0022513,GARD:0020063,GARD:0021804,Rare developmental defect during embryogenesis +GARD:0020253,GARD:0022513,GARD:0020063,GARD:0001975,Rare developmental defect during embryogenesis +GARD:0020253,GARD:0022536,GARD:0020063,GARD:0021804,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020254,GARD:0022535,GARD:0019401,GARD:0019762,Rare neoplastic disease +GARD:0020254,GARD:0022535,GARD:0019401,GARD:0019766,Rare neoplastic disease +GARD:0020254,GARD:0022535,GARD:0019401,GARD:0019765,Rare neoplastic disease +GARD:0020254,GARD:0022535,GARD:0019401,GARD:0010877,Rare neoplastic disease +GARD:0020254,GARD:0022535,GARD:0019401,GARD:0019764,Rare neoplastic disease +GARD:0020254,GARD:0022535,GARD:0019401,GARD:0021253,Rare neoplastic disease +GARD:0020254,GARD:0022535,GARD:0019401,GARD:0009316,Rare neoplastic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0017362,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0021902,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0004614,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0008231,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0004635,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0012124,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0004380,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0020699,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0005980,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0021129,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0005699,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0006835,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0017156,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0006249,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0016756,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0018676,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0007570,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0006858,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0019105,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0022228,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0020599,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0006322,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0017371,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0003054,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0020256,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0007607,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0010809,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0006626,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0006834,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0022146,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0018775,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0022403,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0010962,Rare systemic or rheumatologic disease +GARD:0020255,GARD:0022525,GARD:0022525,GARD:0001084,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0018695,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0019097,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0017368,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0009820,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0009128,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0017737,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0007664,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0012521,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0009748,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0017766,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0001217,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0005824,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0010252,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0019219,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0000160,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0006217,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0007713,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0010775,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0007417,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0017369,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0020696,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0021643,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0017762,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0004697,Rare systemic or rheumatologic disease +GARD:0020256,GARD:0022525,GARD:0020255,GARD:0017874,Rare systemic or rheumatologic disease +GARD:0020257,GARD:0022525,GARD:0022525,GARD:0004704,Rare systemic or rheumatologic disease +GARD:0020257,GARD:0022525,GARD:0022525,GARD:0018940,Rare systemic or rheumatologic disease +GARD:0020257,GARD:0022525,GARD:0022525,GARD:0005693,Rare systemic or rheumatologic disease +GARD:0020257,GARD:0022525,GARD:0022525,GARD:0008234,Rare systemic or rheumatologic disease +GARD:0020257,GARD:0022525,GARD:0022525,GARD:0021958,Rare systemic or rheumatologic disease +GARD:0020257,GARD:0022525,GARD:0022525,GARD:0001292,Rare systemic or rheumatologic disease +GARD:0020257,GARD:0022525,GARD:0022525,GARD:0006542,Rare systemic or rheumatologic disease +GARD:0020257,GARD:0022525,GARD:0022525,GARD:0000436,Rare systemic or rheumatologic disease +GARD:0020257,GARD:0022525,GARD:0022525,GARD:0018677,Rare systemic or rheumatologic disease +GARD:0020257,GARD:0022525,GARD:0022525,GARD:0020144,Rare systemic or rheumatologic disease +GARD:0020257,GARD:0022525,GARD:0022525,GARD:0000508,Rare systemic or rheumatologic disease +GARD:0020257,GARD:0022525,GARD:0022525,GARD:0022204,Rare systemic or rheumatologic disease 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genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0007649,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0010955,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0003343,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0017736,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0016649,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0007830,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0005630,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0007649,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0015000,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0002375,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0004870,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0007378,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0005764,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0006950,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0000804,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0007830,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0020069,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0003904,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0001550,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0006425,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0007910,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0004863,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0002630,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0017130,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0001100,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0005576,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0005528,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0003343,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0005576,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0006122,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0006950,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0002630,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0006425,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0000117,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0017376,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0017184,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0002658,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0005862,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0010955,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0010091,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0012800,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0000915,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0007895,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0017130,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0007593,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0017209,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0017736,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0017045,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0007598,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0003936,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0001100,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0005528,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0005764,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0012800,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0003936,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0013708,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0005862,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0007885,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0010091,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0017135,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0003902,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0004863,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0002658,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0017376,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0003007,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0004870,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0000117,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0017577,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0006995,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0007885,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0003904,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0000915,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0007910,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0020069,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0017209,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0007378,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0000804,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0007598,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0006274,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0002375,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0001550,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0006122,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0017184,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0005630,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0017045,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0003902,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0007895,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0017577,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0007593,Rare genetic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0017135,Rare neoplastic disease +GARD:0020259,GARD:0022535,GARD:0019921,GARD:0015000,Rare neoplastic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0006995,Rare genetic disease +GARD:0020259,GARD:0022531,GARD:0019921,GARD:0013708,Rare genetic disease +GARD:0020260,GARD:0022531,GARD:0018877,GARD:0018991,Rare genetic disease +GARD:0020260,GARD:0022531,GARD:0018877,GARD:0017886,Rare genetic disease +GARD:0020260,GARD:0022531,GARD:0018877,GARD:0020261,Rare genetic disease +GARD:0020260,GARD:0022531,GARD:0018877,GARD:0020264,Rare genetic disease +GARD:0020260,GARD:0022531,GARD:0018877,GARD:0018988,Rare genetic disease +GARD:0020260,GARD:0022531,GARD:0018877,GARD:0017039,Rare genetic disease +GARD:0020260,GARD:0022531,GARD:0018877,GARD:0006559,Rare genetic disease +GARD:0020260,GARD:0022531,GARD:0018877,GARD:0020262,Rare genetic disease +GARD:0020260,GARD:0022531,GARD:0018877,GARD:0018992,Rare genetic disease +GARD:0020260,GARD:0022531,GARD:0018877,GARD:0020545,Rare genetic disease +GARD:0020260,GARD:0022531,GARD:0018877,GARD:0020263,Rare genetic disease +GARD:0020261,GARD:0022531,GARD:0020260,GARD:0021104,Rare genetic disease +GARD:0020261,GARD:0022510,GARD:0018985,GARD:0021105,Rare skin disease +GARD:0020261,GARD:0022510,GARD:0018985,GARD:0021104,Rare skin disease +GARD:0020261,GARD:0022531,GARD:0020260,GARD:0021105,Rare genetic disease +GARD:0020262,GARD:0022531,GARD:0020260,GARD:0001722,Rare genetic disease +GARD:0020262,GARD:0022531,GARD:0020260,GARD:0010923,Rare genetic disease +GARD:0020262,GARD:0022531,GARD:0020260,GARD:0007401,Rare genetic disease +GARD:0020262,GARD:0022531,GARD:0020260,GARD:0021950,Rare genetic disease +GARD:0020262,GARD:0022531,GARD:0020260,GARD:0000059,Rare genetic disease +GARD:0020262,GARD:0022531,GARD:0020260,GARD:0017072,Rare genetic disease +GARD:0020263,GARD:0022531,GARD:0020260,GARD:0000125,Rare genetic disease +GARD:0020263,GARD:0022531,GARD:0020260,GARD:0016707,Rare genetic disease +GARD:0020263,GARD:0022531,GARD:0020260,GARD:0005453,Rare genetic disease +GARD:0020263,GARD:0022531,GARD:0020260,GARD:0004603,Rare genetic disease +GARD:0020264,GARD:0022531,GARD:0020260,GARD:0016542,Rare genetic disease +GARD:0020264,GARD:0022531,GARD:0020260,GARD:0004438,Rare genetic disease +GARD:0020264,GARD:0022531,GARD:0020260,GARD:0010983,Rare genetic disease +GARD:0020265,GARD:0022531,GARD:0018877,GARD:0006317,Rare genetic disease +GARD:0020265,GARD:0022531,GARD:0018877,GARD:0020266,Rare genetic disease +GARD:0020265,GARD:0022531,GARD:0018877,GARD:0020268,Rare genetic disease +GARD:0020265,GARD:0022531,GARD:0018877,GARD:0017984,Rare genetic disease +GARD:0020265,GARD:0022531,GARD:0018877,GARD:0020267,Rare genetic disease +GARD:0020266,GARD:0022531,GARD:0020265,GARD:0018998,Rare genetic disease +GARD:0020266,GARD:0022531,GARD:0020265,GARD:0013167,Rare genetic disease +GARD:0020266,GARD:0022531,GARD:0020265,GARD:0021987,Rare genetic disease +GARD:0020266,GARD:0022531,GARD:0020265,GARD:0018997,Rare genetic disease +GARD:0020266,GARD:0022531,GARD:0020265,GARD:0018996,Rare genetic disease +GARD:0020267,GARD:0022531,GARD:0020265,GARD:0019000,Rare genetic disease +GARD:0020267,GARD:0022531,GARD:0020265,GARD:0019001,Rare genetic disease +GARD:0020268,GARD:0022531,GARD:0020265,GARD:0005003,Rare genetic disease +GARD:0020268,GARD:0022531,GARD:0020265,GARD:0005004,Rare genetic disease +GARD:0020268,GARD:0022531,GARD:0020265,GARD:0004121,Rare genetic disease +GARD:0020269,GARD:0022531,GARD:0018877,GARD:0003347,Rare genetic disease +GARD:0020269,GARD:0022531,GARD:0018877,GARD:0017298,Rare genetic disease +GARD:0020269,GARD:0022531,GARD:0018877,GARD:0017776,Rare genetic disease +GARD:0020269,GARD:0022531,GARD:0018877,GARD:0020271,Rare genetic disease +GARD:0020269,GARD:0022531,GARD:0018877,GARD:0020270,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0010905,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0006425,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0001996,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0004312,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0006995,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0001119,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0000334,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0001100,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0017703,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0000606,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0016630,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0003912,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0007378,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0017448,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0010714,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0011004,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0017079,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0016706,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0003967,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0017158,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0016756,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0016769,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0004768,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0005562,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0016563,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0009775,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0002438,Rare genetic disease +GARD:0020270,GARD:0022531,GARD:0020269,GARD:0017895,Rare genetic disease 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+GARD:0020276,GARD:0022531,GARD:0018875,GARD:0010877,Rare genetic disease +GARD:0020277,GARD:0022531,GARD:0018877,GARD:0010353,Rare genetic disease +GARD:0020277,GARD:0022531,GARD:0018877,GARD:0005630,Rare genetic disease +GARD:0020277,GARD:0022531,GARD:0018877,GARD:0010947,Rare genetic disease +GARD:0020277,GARD:0022531,GARD:0018877,GARD:0007910,Rare genetic disease +GARD:0020277,GARD:0022531,GARD:0018877,GARD:0004391,Rare genetic disease +GARD:0020277,GARD:0022531,GARD:0018877,GARD:0017130,Rare genetic disease +GARD:0020277,GARD:0022531,GARD:0018877,GARD:0004392,Rare genetic disease +GARD:0020277,GARD:0022531,GARD:0018877,GARD:0006569,Rare genetic disease +GARD:0020277,GARD:0022531,GARD:0018877,GARD:0000915,Rare genetic disease +GARD:0020278,GARD:0022531,GARD:0018877,GARD:0010011,Rare genetic disease +GARD:0020278,GARD:0022531,GARD:0018877,GARD:0006357,Rare genetic disease +GARD:0020278,GARD:0022531,GARD:0018877,GARD:0022392,Rare genetic disease +GARD:0020278,GARD:0022531,GARD:0018877,GARD:0007895,Rare genetic disease +GARD:0020278,GARD:0022531,GARD:0018877,GARD:0001077,Rare genetic disease +GARD:0020278,GARD:0022531,GARD:0018877,GARD:0005427,Rare genetic disease +GARD:0020278,GARD:0022531,GARD:0018877,GARD:0022300,Rare genetic disease +GARD:0020278,GARD:0022531,GARD:0018877,GARD:0013587,Rare genetic disease +GARD:0020278,GARD:0022531,GARD:0018877,GARD:0006800,Rare genetic disease +GARD:0020278,GARD:0022531,GARD:0018877,GARD:0006878,Rare genetic disease +GARD:0020278,GARD:0022531,GARD:0018877,GARD:0004483,Rare genetic disease +GARD:0020278,GARD:0022531,GARD:0018877,GARD:0006100,Rare genetic disease +GARD:0020278,GARD:0022531,GARD:0018877,GARD:0006035,Rare genetic disease +GARD:0020279,GARD:0022531,GARD:0018915,GARD:0020358,Rare genetic disease +GARD:0020279,GARD:0022531,GARD:0018915,GARD:0019475,Rare genetic disease +GARD:0020279,GARD:0022531,GARD:0018915,GARD:0020388,Rare genetic disease +GARD:0020279,GARD:0022531,GARD:0018915,GARD:0019478,Rare genetic disease +GARD:0020279,GARD:0022531,GARD:0018915,GARD:0019562,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0010739,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0005040,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0005758,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0013488,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0013264,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0006637,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0006035,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0010594,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0019062,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0017991,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0013658,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0005774,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0021323,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0010502,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0018023,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0022487,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0018004,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0018846,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0017609,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0007207,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0004891,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0019061,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0012036,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0022305,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0006122,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0006844,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0009292,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0017943,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0017806,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0021560,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0020029,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0005783,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0012978,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0017863,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0017809,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0017736,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0009980,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0022246,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0004264,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0017523,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0008331,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0017911,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0003971,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0017918,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0021637,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0021039,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0013423,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0006818,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0017990,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0017552,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0010684,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0021527,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0021620,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0005984,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0021904,Rare genetic disease +GARD:0020280,GARD:0022531,GARD:0018915,GARD:0004265,Rare genetic disease +GARD:0020281,GARD:0022531,GARD:0018915,GARD:0010768,Rare genetic disease +GARD:0020281,GARD:0022531,GARD:0018915,GARD:0001613,Rare genetic disease +GARD:0020281,GARD:0022531,GARD:0018915,GARD:0012779,Rare genetic disease +GARD:0020281,GARD:0022531,GARD:0018915,GARD:0007855,Rare genetic disease +GARD:0020281,GARD:0022531,GARD:0018915,GARD:0012811,Rare genetic disease +GARD:0020281,GARD:0022531,GARD:0018915,GARD:0021965,Rare genetic disease +GARD:0020281,GARD:0022531,GARD:0018915,GARD:0006121,Rare genetic disease +GARD:0020281,GARD:0022531,GARD:0018915,GARD:0018823,Rare genetic disease +GARD:0020281,GARD:0022531,GARD:0018915,GARD:0008703,Rare genetic disease +GARD:0020281,GARD:0022531,GARD:0018915,GARD:0009643,Rare genetic disease +GARD:0020281,GARD:0022531,GARD:0018915,GARD:0021960,Rare genetic disease +GARD:0020281,GARD:0022531,GARD:0018915,GARD:0021614,Rare genetic disease +GARD:0020282,GARD:0022531,GARD:0020290,GARD:0021003,Rare genetic disease +GARD:0020282,GARD:0022531,GARD:0018915,GARD:0021003,Rare genetic disease +GARD:0020282,GARD:0022531,GARD:0018915,GARD:0021007,Rare genetic disease +GARD:0020282,GARD:0022531,GARD:0020290,GARD:0021007,Rare genetic disease +GARD:0020283,GARD:0022531,GARD:0018915,GARD:0010768,Rare genetic disease +GARD:0020284,GARD:0022531,GARD:0018915,GARD:0020089,Rare genetic disease +GARD:0020284,GARD:0022531,GARD:0018915,GARD:0020083,Rare genetic disease +GARD:0020284,GARD:0022531,GARD:0018915,GARD:0020088,Rare genetic disease +GARD:0020284,GARD:0022531,GARD:0018915,GARD:0020087,Rare genetic disease +GARD:0020284,GARD:0022531,GARD:0018915,GARD:0020085,Rare genetic disease +GARD:0020284,GARD:0022531,GARD:0018915,GARD:0020086,Rare genetic disease +GARD:0020284,GARD:0022531,GARD:0018915,GARD:0020091,Rare genetic disease +GARD:0020284,GARD:0022531,GARD:0018915,GARD:0020084,Rare genetic disease +GARD:0020285,GARD:0022531,GARD:0018915,GARD:0003865,Rare genetic disease +GARD:0020285,GARD:0022531,GARD:0018915,GARD:0021589,Rare genetic disease +GARD:0020285,GARD:0022531,GARD:0018915,GARD:0001037,Rare genetic disease +GARD:0020286,GARD:0022531,GARD:0018915,GARD:0003314,Rare genetic disease +GARD:0020286,GARD:0022524,GARD:0019816,GARD:0021401,Rare neurologic disease +GARD:0020286,GARD:0022524,GARD:0019816,GARD:0016559,Rare neurologic disease +GARD:0020286,GARD:0022524,GARD:0019816,GARD:0018718,Rare neurologic disease +GARD:0020286,GARD:0022524,GARD:0019816,GARD:0010514,Rare neurologic disease +GARD:0020286,GARD:0022524,GARD:0019816,GARD:0000944,Rare neurologic disease +GARD:0020286,GARD:0022531,GARD:0018915,GARD:0022405,Rare genetic disease +GARD:0020286,GARD:0022531,GARD:0018915,GARD:0001993,Rare genetic disease +GARD:0020286,GARD:0022524,GARD:0019816,GARD:0004958,Rare neurologic disease +GARD:0020286,GARD:0022531,GARD:0018915,GARD:0004958,Rare genetic disease +GARD:0020286,GARD:0022531,GARD:0018915,GARD:0021401,Rare genetic disease +GARD:0020286,GARD:0022531,GARD:0018915,GARD:0020665,Rare genetic disease +GARD:0020286,GARD:0022531,GARD:0018915,GARD:0008423,Rare genetic disease +GARD:0020286,GARD:0022524,GARD:0019816,GARD:0022405,Rare neurologic disease +GARD:0020286,GARD:0022524,GARD:0019816,GARD:0017768,Rare neurologic disease +GARD:0020286,GARD:0022531,GARD:0018915,GARD:0004927,Rare genetic disease +GARD:0020286,GARD:0022524,GARD:0019816,GARD:0020665,Rare neurologic disease +GARD:0020286,GARD:0022524,GARD:0019816,GARD:0008423,Rare neurologic disease 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+GARD:0020290,GARD:0022531,GARD:0022531,GARD:0018780,Rare genetic disease +GARD:0020291,GARD:0022531,GARD:0020290,GARD:0021947,Rare genetic disease +GARD:0020291,GARD:0022531,GARD:0020290,GARD:0021507,Rare genetic disease +GARD:0020291,GARD:0022531,GARD:0020290,GARD:0022441,Rare genetic disease +GARD:0020292,GARD:0022531,GARD:0020290,GARD:0021728,Rare genetic disease +GARD:0020292,GARD:0022531,GARD:0020290,GARD:0019872,Rare genetic disease +GARD:0020293,GARD:0022531,GARD:0020290,GARD:0019218,Rare genetic disease +GARD:0020293,GARD:0022531,GARD:0020290,GARD:0021540,Rare genetic disease +GARD:0020293,GARD:0022531,GARD:0019400,GARD:0019218,Rare genetic disease +GARD:0020293,GARD:0022531,GARD:0019400,GARD:0021540,Rare genetic disease +GARD:0020294,GARD:0022531,GARD:0020290,GARD:0001425,Rare genetic disease +GARD:0020294,GARD:0022531,GARD:0020290,GARD:0000826,Rare genetic disease +GARD:0020294,GARD:0022531,GARD:0020290,GARD:0016662,Rare genetic disease 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+GARD:0020295,GARD:0022531,GARD:0020290,GARD:0019095,Rare genetic disease +GARD:0020295,GARD:0022531,GARD:0020290,GARD:0019383,Rare genetic disease +GARD:0020296,GARD:0022531,GARD:0020290,GARD:0019861,Rare genetic disease +GARD:0020296,GARD:0022531,GARD:0020290,GARD:0019862,Rare genetic disease +GARD:0020297,GARD:0022531,GARD:0020290,GARD:0019867,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0001437,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0022164,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0022117,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0016802,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0001436,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0022165,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0009952,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0016490,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0022167,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0022171,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0019508,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0019888,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0019536,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0016875,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0022172,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0016657,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0022189,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0022154,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0016801,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0010025,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0008419,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0019523,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0001433,Rare genetic disease +GARD:0020298,GARD:0022531,GARD:0020290,GARD:0022160,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0010945,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0017709,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0000312,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0010109,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0021750,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0017903,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0007633,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0017814,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0004870,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0018025,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0005124,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0006810,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0000405,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0022350,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0017808,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0021956,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0007891,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0000288,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0000095,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0021751,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0012814,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0017948,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0002123,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0016594,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0005683,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0021906,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0006455,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0017800,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0000290,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0013638,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0017707,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0004775,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0017528,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0000915,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0002213,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0006290,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0017894,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0017633,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0008433,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0022314,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0022371,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0018015,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0000080,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0007593,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0019561,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0005667,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0012845,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0018026,Rare genetic disease +GARD:0020299,GARD:0022531,GARD:0020290,GARD:0017116,Rare genetic disease +GARD:0020300,GARD:0022531,GARD:0020290,GARD:0018935,Rare genetic disease +GARD:0020300,GARD:0022531,GARD:0020290,GARD:0019213,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0004169,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0000496,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0005121,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0000499,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0012640,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0010056,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0000897,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0010147,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0000068,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0017547,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0009798,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0000498,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0005802,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0020625,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0000494,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0018859,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0008549,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0003653,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0002390,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0010692,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0002033,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0001261,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0005569,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0000497,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0008410,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0004963,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0004260,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0003169,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0001002,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0009124,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0007784,Rare genetic disease +GARD:0020301,GARD:0022531,GARD:0020290,GARD:0012074,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0004054,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0002071,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0004051,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0007799,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0004628,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0016679,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0001393,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0005587,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0000265,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0006848,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0018019,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0018943,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0003128,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0017309,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0000044,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0000469,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0005267,Rare genetic disease +GARD:0020302,GARD:0022531,GARD:0020290,GARD:0000277,Rare genetic disease 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+GARD:0020306,GARD:0022531,GARD:0019400,GARD:0003049,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0017943,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0020334,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0022484,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0016587,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0006735,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0016545,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0008547,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0003350,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0006237,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0010801,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0020634,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0017967,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0018920,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0009496,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0017564,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0022486,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0005787,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0022238,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0001614,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0007178,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0003295,Rare genetic disease +GARD:0020306,GARD:0022531,GARD:0019400,GARD:0021254,Rare genetic disease +GARD:0020307,GARD:0022531,GARD:0018875,GARD:0021905,Rare genetic disease +GARD:0020307,GARD:0022531,GARD:0018875,GARD:0007892,Rare genetic disease +GARD:0020308,GARD:0022531,GARD:0022166,GARD:0022171,Rare genetic disease +GARD:0020308,GARD:0022531,GARD:0022166,GARD:0009952,Rare genetic disease +GARD:0020308,GARD:0022531,GARD:0022166,GARD:0022169,Rare genetic disease +GARD:0020308,GARD:0022531,GARD:0022166,GARD:0001433,Rare genetic disease +GARD:0020308,GARD:0022531,GARD:0022166,GARD:0019536,Rare genetic disease +GARD:0020308,GARD:0022531,GARD:0022166,GARD:0022172,Rare genetic disease +GARD:0020309,GARD:0022531,GARD:0022149,GARD:0022155,Rare genetic disease +GARD:0020309,GARD:0022531,GARD:0022149,GARD:0022151,Rare genetic disease +GARD:0020309,GARD:0022531,GARD:0022149,GARD:0022150,Rare genetic disease +GARD:0020309,GARD:0022531,GARD:0022149,GARD:0022152,Rare genetic disease +GARD:0020310,GARD:0022531,GARD:0019782,GARD:0017544,Rare genetic disease +GARD:0020310,GARD:0022531,GARD:0018875,GARD:0009696,Rare genetic disease +GARD:0020310,GARD:0022531,GARD:0019782,GARD:0009696,Rare genetic disease +GARD:0020310,GARD:0022531,GARD:0018875,GARD:0007866,Rare genetic disease +GARD:0020310,GARD:0022531,GARD:0019782,GARD:0007866,Rare genetic disease +GARD:0020310,GARD:0022531,GARD:0018875,GARD:0017544,Rare genetic disease +GARD:0020311,GARD:0022531,GARD:0020007,GARD:0006626,Rare genetic disease +GARD:0020311,GARD:0022531,GARD:0020007,GARD:0002427,Rare genetic disease +GARD:0020311,GARD:0022531,GARD:0020007,GARD:0003378,Rare genetic disease +GARD:0020311,GARD:0022531,GARD:0020007,GARD:0002104,Rare genetic disease +GARD:0020311,GARD:0022531,GARD:0020007,GARD:0000368,Rare genetic disease +GARD:0020311,GARD:0022531,GARD:0020007,GARD:0016591,Rare genetic disease +GARD:0020311,GARD:0022531,GARD:0020007,GARD:0005184,Rare genetic disease +GARD:0020311,GARD:0022531,GARD:0020007,GARD:0000713,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0000347,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0005787,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0017620,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0022238,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0003697,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0017683,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0008509,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0010239,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0005589,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0017381,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0005592,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0009210,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0003881,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0010221,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0004003,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0017768,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0020214,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0018682,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0006632,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0009811,Rare genetic disease +GARD:0020312,GARD:0022531,GARD:0020011,GARD:0007898,Rare genetic disease +GARD:0020313,GARD:0022531,GARD:0020011,GARD:0017634,Rare genetic disease +GARD:0020313,GARD:0022531,GARD:0020011,GARD:0003924,Rare genetic disease +GARD:0020313,GARD:0022531,GARD:0020011,GARD:0019801,Rare genetic disease +GARD:0020313,GARD:0022531,GARD:0020011,GARD:0017370,Rare genetic disease +GARD:0020314,GARD:0022531,GARD:0020011,GARD:0020221,Rare genetic disease +GARD:0020314,GARD:0022531,GARD:0020011,GARD:0020222,Rare genetic disease +GARD:0020314,GARD:0022531,GARD:0020011,GARD:0022390,Rare genetic disease +GARD:0020314,GARD:0022531,GARD:0020011,GARD:0017278,Rare genetic disease +GARD:0020315,GARD:0022531,GARD:0020011,GARD:0017374,Rare genetic disease +GARD:0020315,GARD:0022531,GARD:0020011,GARD:0020408,Rare genetic disease +GARD:0020315,GARD:0022531,GARD:0020011,GARD:0021132,Rare genetic disease +GARD:0020315,GARD:0022531,GARD:0020011,GARD:0010877,Rare genetic disease +GARD:0020315,GARD:0022531,GARD:0020011,GARD:0020407,Rare genetic disease +GARD:0020315,GARD:0022531,GARD:0020011,GARD:0010828,Rare genetic disease +GARD:0020316,GARD:0022531,GARD:0020011,GARD:0010906,Rare genetic disease +GARD:0020316,GARD:0022531,GARD:0020011,GARD:0010824,Rare genetic disease +GARD:0020316,GARD:0022531,GARD:0020011,GARD:0004259,Rare genetic disease +GARD:0020316,GARD:0022531,GARD:0020011,GARD:0020226,Rare genetic disease +GARD:0020316,GARD:0022531,GARD:0020011,GARD:0021435,Rare genetic disease +GARD:0020316,GARD:0022531,GARD:0020011,GARD:0016532,Rare genetic disease +GARD:0020316,GARD:0022531,GARD:0020011,GARD:0000433,Rare genetic disease +GARD:0020316,GARD:0022531,GARD:0020011,GARD:0019804,Rare genetic disease +GARD:0020316,GARD:0022531,GARD:0020011,GARD:0011984,Rare genetic disease +GARD:0020316,GARD:0022531,GARD:0020011,GARD:0013101,Rare genetic disease +GARD:0020316,GARD:0022531,GARD:0020011,GARD:0021617,Rare genetic disease +GARD:0020317,GARD:0022531,GARD:0020011,GARD:0001850,Rare genetic disease +GARD:0020317,GARD:0022531,GARD:0020011,GARD:0012314,Rare genetic disease +GARD:0020317,GARD:0022531,GARD:0020011,GARD:0000812,Rare genetic disease +GARD:0020317,GARD:0022531,GARD:0020011,GARD:0017300,Rare genetic disease +GARD:0020317,GARD:0022531,GARD:0020011,GARD:0013565,Rare genetic disease +GARD:0020317,GARD:0022531,GARD:0020011,GARD:0008466,Rare genetic disease +GARD:0020317,GARD:0022531,GARD:0020011,GARD:0019766,Rare genetic disease +GARD:0020318,GARD:0022531,GARD:0020030,GARD:0021934,Rare genetic disease +GARD:0020318,GARD:0022531,GARD:0020030,GARD:0021172,Rare genetic disease +GARD:0020318,GARD:0022531,GARD:0020030,GARD:0019453,Rare genetic disease +GARD:0020318,GARD:0022531,GARD:0020030,GARD:0020669,Rare genetic disease +GARD:0020318,GARD:0022531,GARD:0020030,GARD:0018889,Rare genetic disease +GARD:0020318,GARD:0022531,GARD:0020030,GARD:0020235,Rare genetic disease +GARD:0020319,GARD:0022531,GARD:0020030,GARD:0018873,Rare genetic disease +GARD:0020319,GARD:0022531,GARD:0020030,GARD:0020677,Rare genetic disease +GARD:0020319,GARD:0022531,GARD:0020030,GARD:0018905,Rare genetic disease +GARD:0020319,GARD:0022531,GARD:0020030,GARD:0009430,Rare genetic disease +GARD:0020319,GARD:0022531,GARD:0020030,GARD:0020680,Rare genetic disease +GARD:0020320,GARD:0022523,GARD:0019807,GARD:0020596,Rare immune disease +GARD:0020320,GARD:0022523,GARD:0019807,GARD:0017155,Rare immune disease +GARD:0020320,GARD:0022531,GARD:0019807,GARD:0011983,Rare genetic disease +GARD:0020320,GARD:0022523,GARD:0019807,GARD:0011983,Rare immune disease +GARD:0020320,GARD:0022531,GARD:0019807,GARD:0020596,Rare genetic disease +GARD:0020320,GARD:0022531,GARD:0019807,GARD:0017155,Rare genetic disease +GARD:0020321,GARD:0022531,GARD:0019808,GARD:0003100,Rare genetic disease +GARD:0020321,GARD:0022523,GARD:0019808,GARD:0016616,Rare immune disease +GARD:0020321,GARD:0022531,GARD:0019808,GARD:0010778,Rare genetic disease +GARD:0020321,GARD:0022531,GARD:0019808,GARD:0021865,Rare genetic disease +GARD:0020321,GARD:0022523,GARD:0019808,GARD:0017087,Rare immune disease +GARD:0020321,GARD:0022523,GARD:0019808,GARD:0004863,Rare immune disease +GARD:0020321,GARD:0022523,GARD:0019808,GARD:0006035,Rare immune disease +GARD:0020321,GARD:0022531,GARD:0019808,GARD:0003868,Rare genetic disease +GARD:0020321,GARD:0022523,GARD:0019808,GARD:0003100,Rare immune disease +GARD:0020321,GARD:0022523,GARD:0019808,GARD:0006100,Rare immune disease +GARD:0020321,GARD:0022523,GARD:0019808,GARD:0021865,Rare immune disease +GARD:0020321,GARD:0022531,GARD:0019808,GARD:0004863,Rare genetic disease +GARD:0020321,GARD:0022531,GARD:0019808,GARD:0016616,Rare genetic disease +GARD:0020321,GARD:0022523,GARD:0019808,GARD:0010778,Rare immune disease +GARD:0020321,GARD:0022531,GARD:0019808,GARD:0022464,Rare genetic disease +GARD:0020321,GARD:0022531,GARD:0019808,GARD:0006035,Rare genetic disease +GARD:0020321,GARD:0022531,GARD:0019808,GARD:0006100,Rare genetic disease +GARD:0020321,GARD:0022531,GARD:0019808,GARD:0017087,Rare genetic disease +GARD:0020321,GARD:0022523,GARD:0019808,GARD:0003868,Rare immune disease +GARD:0020321,GARD:0022523,GARD:0019808,GARD:0022464,Rare immune disease +GARD:0020322,GARD:0022523,GARD:0019810,GARD:0012638,Rare immune disease +GARD:0020322,GARD:0022523,GARD:0019810,GARD:0012314,Rare immune disease +GARD:0020322,GARD:0022531,GARD:0019810,GARD:0012638,Rare genetic disease +GARD:0020322,GARD:0022523,GARD:0019810,GARD:0001077,Rare immune disease +GARD:0020322,GARD:0022523,GARD:0019810,GARD:0007889,Rare immune disease +GARD:0020322,GARD:0022523,GARD:0019810,GARD:0017795,Rare immune disease +GARD:0020322,GARD:0022523,GARD:0019810,GARD:0010311,Rare immune disease +GARD:0020322,GARD:0022523,GARD:0019810,GARD:0006649,Rare immune disease +GARD:0020322,GARD:0022531,GARD:0019810,GARD:0017612,Rare genetic disease +GARD:0020322,GARD:0022531,GARD:0019810,GARD:0010311,Rare genetic disease +GARD:0020322,GARD:0022531,GARD:0019810,GARD:0006649,Rare genetic disease +GARD:0020322,GARD:0022531,GARD:0019810,GARD:0007889,Rare genetic disease +GARD:0020322,GARD:0022531,GARD:0019810,GARD:0001077,Rare genetic disease +GARD:0020322,GARD:0022531,GARD:0019810,GARD:0012977,Rare genetic disease +GARD:0020322,GARD:0022531,GARD:0019810,GARD:0012314,Rare genetic disease +GARD:0020322,GARD:0022523,GARD:0019810,GARD:0012977,Rare immune disease +GARD:0020322,GARD:0022531,GARD:0019810,GARD:0017795,Rare genetic disease +GARD:0020322,GARD:0022523,GARD:0019810,GARD:0017612,Rare immune disease +GARD:0020323,GARD:0022531,GARD:0022531,GARD:0016668,Rare genetic disease +GARD:0020323,GARD:0022531,GARD:0022531,GARD:0007100,Rare genetic disease +GARD:0020323,GARD:0022531,GARD:0022531,GARD:0015010,Rare genetic disease +GARD:0020323,GARD:0022531,GARD:0022531,GARD:0017180,Rare genetic disease +GARD:0020323,GARD:0022531,GARD:0022531,GARD:0020341,Rare genetic disease +GARD:0020323,GARD:0022531,GARD:0022531,GARD:0009489,Rare genetic disease +GARD:0020323,GARD:0022531,GARD:0022531,GARD:0020468,Rare genetic disease +GARD:0020323,GARD:0022531,GARD:0022531,GARD:0021480,Rare genetic disease +GARD:0020324,GARD:0022531,GARD:0018875,GARD:0017142,Rare genetic disease +GARD:0020324,GARD:0022531,GARD:0018875,GARD:0020467,Rare genetic disease +GARD:0020325,GARD:0022531,GARD:0018915,GARD:0017965,Rare genetic disease +GARD:0020325,GARD:0022531,GARD:0018915,GARD:0020326,Rare genetic disease +GARD:0020325,GARD:0022531,GARD:0018915,GARD:0019783,Rare genetic disease +GARD:0020326,GARD:0022531,GARD:0020325,GARD:0022440,Rare genetic disease +GARD:0020326,GARD:0022531,GARD:0020325,GARD:0022441,Rare genetic disease +GARD:0020327,GARD:0022531,GARD:0022531,GARD:0017287,Rare genetic disease +GARD:0020327,GARD:0022531,GARD:0022531,GARD:0019813,Rare genetic disease +GARD:0020328,GARD:0022510,GARD:0019014,GARD:0006873,Rare skin disease +GARD:0020328,GARD:0022510,GARD:0019014,GARD:0020329,Rare skin disease +GARD:0020328,GARD:0022535,GARD:0019014,GARD:0008487,Rare neoplastic disease +GARD:0020328,GARD:0022510,GARD:0019014,GARD:0008487,Rare skin disease +GARD:0020328,GARD:0022535,GARD:0019014,GARD:0020329,Rare neoplastic disease +GARD:0020328,GARD:0022535,GARD:0019014,GARD:0006873,Rare neoplastic disease +GARD:0020329,GARD:0022535,GARD:0020328,,Rare neoplastic disease +GARD:0020329,GARD:0022510,GARD:0020328,,Rare skin disease +GARD:0020330,GARD:0022513,GARD:0019857,,Rare developmental defect during embryogenesis +GARD:0020330,GARD:0022534,GARD:0019857,,Rare abdominal surgical disease +GARD:0020331,GARD:0022521,GARD:0019278,,Rare endocrine disease +GARD:0020332,GARD:0022513,GARD:0021476,,Rare developmental defect during embryogenesis +GARD:0020332,GARD:0022531,GARD:0020914,,Rare genetic disease +GARD:0020332,GARD:0022531,GARD:0021476,,Rare genetic disease +GARD:0020332,GARD:0022513,GARD:0020914,,Rare developmental defect during embryogenesis +GARD:0020332,GARD:0022532,GARD:0021476,,Rare urogenital disease +GARD:0020332,GARD:0022521,GARD:0021476,,Rare endocrine disease +GARD:0020332,GARD:0022531,GARD:0021479,,Rare genetic disease +GARD:0020332,GARD:0022514,GARD:0021479,,Rare gynecologic or obstetric disease +GARD:0020333,GARD:0022520,GARD:0022110,GARD:0021059,Rare ophthalmic disorder +GARD:0020333,GARD:0022520,GARD:0022110,GARD:0021060,Rare ophthalmic disorder +GARD:0020334,GARD:0022531,GARD:0021357,,Rare genetic disease +GARD:0020334,GARD:0022508,GARD:0021357,,Rare inborn errors of metabolism +GARD:0020334,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0020334,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0020335,GARD:0022531,GARD:0009138,,Rare genetic disease +GARD:0020335,GARD:0022524,GARD:0009138,,Rare neurologic disease +GARD:0020335,GARD:0022531,GARD:0002003,,Rare genetic disease +GARD:0020336,GARD:0022531,GARD:0020099,,Rare genetic disease +GARD:0020336,GARD:0022524,GARD:0020099,,Rare neurologic disease +GARD:0020337,GARD:0022524,GARD:0019480,,Rare neurologic disease +GARD:0020337,GARD:0022513,GARD:0019480,,Rare developmental defect during embryogenesis +GARD:0020338,GARD:0022513,GARD:0019865,GARD:0020987,Rare developmental defect during embryogenesis +GARD:0020338,GARD:0022513,GARD:0019865,GARD:0018734,Rare developmental defect during embryogenesis +GARD:0020338,GARD:0022513,GARD:0019865,GARD:0002637,Rare developmental defect during embryogenesis +GARD:0020338,GARD:0022524,GARD:0019865,GARD:0020978,Rare neurologic disease +GARD:0020338,GARD:0022524,GARD:0019865,GARD:0016601,Rare neurologic disease +GARD:0020338,GARD:0022524,GARD:0019865,GARD:0003603,Rare neurologic disease +GARD:0020338,GARD:0022524,GARD:0019865,GARD:0020041,Rare neurologic disease +GARD:0020338,GARD:0022524,GARD:0019865,GARD:0020979,Rare neurologic disease +GARD:0020338,GARD:0022513,GARD:0019865,GARD:0020978,Rare developmental defect during embryogenesis +GARD:0020338,GARD:0022524,GARD:0019865,GARD:0020987,Rare neurologic disease +GARD:0020338,GARD:0022524,GARD:0019865,GARD:0018734,Rare neurologic disease +GARD:0020338,GARD:0022513,GARD:0019865,GARD:0003603,Rare developmental defect during embryogenesis +GARD:0020338,GARD:0022513,GARD:0019865,GARD:0021407,Rare developmental defect during embryogenesis +GARD:0020338,GARD:0022513,GARD:0019865,GARD:0016601,Rare developmental defect during embryogenesis +GARD:0020338,GARD:0022524,GARD:0019865,GARD:0002637,Rare neurologic disease +GARD:0020338,GARD:0022513,GARD:0019865,GARD:0020041,Rare developmental defect during embryogenesis +GARD:0020338,GARD:0022513,GARD:0019865,GARD:0018681,Rare developmental defect during embryogenesis +GARD:0020338,GARD:0022524,GARD:0019865,GARD:0021407,Rare neurologic disease +GARD:0020338,GARD:0022524,GARD:0019865,GARD:0018681,Rare neurologic disease +GARD:0020338,GARD:0022513,GARD:0019865,GARD:0020979,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0005764,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0012524,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0021944,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0005764,Rare neurologic disease +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0021753,Rare neurologic disease +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0021918,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0005721,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0021944,Rare neurologic disease +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0016555,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0020125,Rare neurologic disease +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0017803,Rare neurologic disease +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0005534,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0012524,Rare neurologic disease +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0017803,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0017824,Rare neurologic disease +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0020125,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0005688,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0012487,Rare neurologic disease +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0005225,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0017824,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0010341,Rare neurologic disease +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0005584,Rare neurologic disease +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0017924,Rare neurologic disease +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0016555,Rare neurologic disease +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0012487,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0005721,Rare neurologic disease +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0001537,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0005688,Rare neurologic disease +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0017773,Rare neurologic disease +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0012486,Rare neurologic disease +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0021918,Rare neurologic disease +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0005560,Rare neurologic disease +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0005584,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0017773,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0021753,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0000448,Rare neurologic disease +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0001537,Rare neurologic disease +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0010341,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0005534,Rare neurologic disease +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0005560,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0000448,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022524,GARD:0019866,GARD:0005225,Rare neurologic disease +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0012486,Rare developmental defect during embryogenesis +GARD:0020339,GARD:0022513,GARD:0019866,GARD:0017924,Rare developmental defect during embryogenesis +GARD:0020340,GARD:0022524,GARD:0019432,GARD:0018913,Rare neurologic disease +GARD:0020340,GARD:0022531,GARD:0019432,GARD:0018721,Rare genetic disease +GARD:0020340,GARD:0022524,GARD:0021280,GARD:0018913,Rare neurologic disease +GARD:0020340,GARD:0022531,GARD:0021280,GARD:0018721,Rare genetic disease +GARD:0020340,GARD:0022524,GARD:0019432,GARD:0016656,Rare neurologic disease +GARD:0020340,GARD:0022531,GARD:0019432,GARD:0018913,Rare genetic disease +GARD:0020340,GARD:0022524,GARD:0019432,GARD:0018721,Rare neurologic disease +GARD:0020340,GARD:0022531,GARD:0021280,GARD:0018913,Rare genetic disease +GARD:0020340,GARD:0022524,GARD:0021280,GARD:0018721,Rare neurologic disease +GARD:0020340,GARD:0022531,GARD:0021280,GARD:0016656,Rare genetic disease +GARD:0020340,GARD:0022531,GARD:0019432,GARD:0016656,Rare genetic disease +GARD:0020340,GARD:0022524,GARD:0021280,GARD:0016656,Rare neurologic disease +GARD:0020341,GARD:0022531,GARD:0020323,GARD:0020135,Rare genetic disease +GARD:0020341,GARD:0022531,GARD:0020323,GARD:0016548,Rare genetic disease +GARD:0020341,GARD:0022531,GARD:0020323,GARD:0021992,Rare genetic disease +GARD:0020341,GARD:0022531,GARD:0020323,GARD:0009882,Rare genetic disease +GARD:0020341,GARD:0022531,GARD:0020323,GARD:0021808,Rare genetic disease +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0006027,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0018021,Rare genetic disease +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0000087,Rare genetic disease +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0003645,Rare ophthalmic disorder +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0000722,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0003693,Rare genetic disease +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0018021,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0005534,Rare ophthalmic disorder +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0003650,Rare ophthalmic disorder +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0017575,Rare genetic disease +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0003692,Rare genetic disease +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0000722,Rare genetic disease +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0009292,Rare ophthalmic disorder +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0004628,Rare genetic disease +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0006027,Rare genetic disease +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0005066,Rare genetic disease +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0017709,Rare genetic disease +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0005534,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0016988,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0003692,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0003693,Rare ophthalmic disorder +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0003659,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0006027,Rare ophthalmic disorder +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0003659,Rare ophthalmic disorder +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0000713,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0002045,Rare genetic disease +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0018024,Rare genetic disease +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0000713,Rare genetic disease +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0009292,Rare genetic disease +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0000722,Rare ophthalmic disorder +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0001443,Rare ophthalmic disorder +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0018021,Rare ophthalmic disorder +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0003645,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0000177,Rare ophthalmic disorder +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0009292,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0003645,Rare genetic disease +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0017707,Rare genetic disease +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0003650,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0017575,Rare ophthalmic disorder +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0017709,Rare ophthalmic disorder +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0004628,Rare ophthalmic disorder +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0005066,Rare ophthalmic disorder +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0000177,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0003650,Rare genetic disease +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0017709,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0016988,Rare genetic disease +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0002045,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0017575,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0001443,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0000177,Rare genetic disease +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0000087,Rare ophthalmic disorder +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0000713,Rare ophthalmic disorder +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0018024,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0002045,Rare ophthalmic disorder +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0016988,Rare ophthalmic disorder +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0004628,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0017707,Rare ophthalmic disorder +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0003693,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0003659,Rare genetic disease +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0003692,Rare ophthalmic disorder +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0017205,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0017205,Rare ophthalmic disorder +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0000087,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0005066,Rare developmental defect during embryogenesis +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0017205,Rare genetic disease +GARD:0020342,GARD:0022520,GARD:0019493,GARD:0018024,Rare ophthalmic disorder +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0005534,Rare genetic disease +GARD:0020342,GARD:0022531,GARD:0019493,GARD:0001443,Rare genetic disease +GARD:0020342,GARD:0022513,GARD:0019493,GARD:0017707,Rare developmental defect during embryogenesis +GARD:0020343,GARD:0022508,GARD:0006844,,Rare inborn errors of metabolism +GARD:0020343,GARD:0022520,GARD:0006844,,Rare ophthalmic disorder +GARD:0020343,GARD:0022536,GARD:0006844,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020343,GARD:0022524,GARD:0006844,,Rare neurologic disease +GARD:0020343,GARD:0022531,GARD:0006844,,Rare genetic disease +GARD:0020344,GARD:0022524,GARD:0006844,,Rare neurologic disease +GARD:0020344,GARD:0022520,GARD:0006844,,Rare ophthalmic disorder +GARD:0020344,GARD:0022536,GARD:0006844,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020344,GARD:0022531,GARD:0006844,,Rare genetic disease +GARD:0020344,GARD:0022508,GARD:0006844,,Rare inborn errors of metabolism +GARD:0020345,GARD:0022531,GARD:0019491,,Rare genetic disease +GARD:0020345,GARD:0022531,GARD:0006844,,Rare genetic disease +GARD:0020345,GARD:0022520,GARD:0006844,,Rare ophthalmic disorder +GARD:0020345,GARD:0022524,GARD:0006844,,Rare neurologic disease +GARD:0020345,GARD:0022524,GARD:0019491,,Rare neurologic disease +GARD:0020345,GARD:0022536,GARD:0006844,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020345,GARD:0022508,GARD:0006844,,Rare inborn errors of metabolism +GARD:0020346,GARD:0022514,GARD:0019363,GARD:0022257,Rare gynecologic or obstetric disease +GARD:0020346,GARD:0022535,GARD:0019363,GARD:0022257,Rare neoplastic disease +GARD:0020346,GARD:0022514,GARD:0019363,GARD:0022258,Rare gynecologic or obstetric disease +GARD:0020346,GARD:0022535,GARD:0019363,GARD:0022256,Rare neoplastic disease +GARD:0020346,GARD:0022535,GARD:0019363,GARD:0022258,Rare neoplastic disease +GARD:0020346,GARD:0022514,GARD:0019363,GARD:0022256,Rare gynecologic or obstetric disease +GARD:0020347,GARD:0022514,GARD:0020208,,Rare gynecologic or obstetric disease +GARD:0020347,GARD:0022535,GARD:0020208,,Rare neoplastic disease +GARD:0020348,GARD:0022514,GARD:0020208,,Rare gynecologic or obstetric disease +GARD:0020348,GARD:0022535,GARD:0020208,,Rare neoplastic disease +GARD:0020349,GARD:0022536,GARD:0009330,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020349,GARD:0022535,GARD:0009330,,Rare neoplastic disease +GARD:0020349,GARD:0022514,GARD:0009330,,Rare gynecologic or obstetric disease +GARD:0020350,GARD:0022536,GARD:0018686,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020350,GARD:0022531,GARD:0018686,,Rare genetic disease +GARD:0020350,GARD:0022515,GARD:0018686,,Rare cardiac disease +GARD:0020350,GARD:0022524,GARD:0018686,,Rare neurologic disease +GARD:0020350,GARD:0022531,GARD:0002031,,Rare genetic disease +GARD:0020351,GARD:0022525,GARD:0009128,,Rare systemic or rheumatologic disease +GARD:0020351,GARD:0022524,GARD:0009128,,Rare neurologic disease +GARD:0020352,GARD:0022524,GARD:0009128,,Rare neurologic disease +GARD:0020352,GARD:0022525,GARD:0009128,,Rare systemic or rheumatologic disease +GARD:0020353,GARD:0022524,GARD:0021933,,Rare neurologic disease +GARD:0020354,GARD:0022524,GARD:0020387,,Rare neurologic disease +GARD:0020355,GARD:0022524,GARD:0020386,,Rare neurologic disease +GARD:0020356,GARD:0022531,GARD:0002031,,Rare genetic disease +GARD:0020356,GARD:0022531,GARD:0020394,,Rare genetic disease +GARD:0020357,GARD:0022524,GARD:0020243,GARD:0006886,Rare neurologic disease +GARD:0020357,GARD:0022524,GARD:0020243,GARD:0007525,Rare neurologic disease +GARD:0020357,GARD:0022524,GARD:0020243,GARD:0019170,Rare neurologic disease +GARD:0020358,GARD:0022524,GARD:0019471,GARD:0005128,Rare neurologic disease +GARD:0020358,GARD:0022524,GARD:0019471,GARD:0016770,Rare neurologic disease +GARD:0020358,GARD:0022531,GARD:0020279,GARD:0007922,Rare genetic disease +GARD:0020358,GARD:0022524,GARD:0019471,GARD:0007890,Rare neurologic disease +GARD:0020358,GARD:0022524,GARD:0019471,GARD:0009487,Rare neurologic disease +GARD:0020358,GARD:0022531,GARD:0020279,GARD:0020363,Rare genetic disease +GARD:0020358,GARD:0022531,GARD:0020279,GARD:0021613,Rare genetic disease +GARD:0020358,GARD:0022524,GARD:0019471,GARD:0020372,Rare neurologic disease +GARD:0020358,GARD:0022524,GARD:0019471,GARD:0018699,Rare neurologic disease +GARD:0020358,GARD:0022531,GARD:0020279,GARD:0007890,Rare genetic disease +GARD:0020358,GARD:0022531,GARD:0020279,GARD:0009487,Rare genetic disease +GARD:0020358,GARD:0022524,GARD:0019471,GARD:0020363,Rare neurologic disease +GARD:0020358,GARD:0022524,GARD:0019471,GARD:0007922,Rare neurologic disease +GARD:0020358,GARD:0022531,GARD:0020279,GARD:0018699,Rare genetic disease +GARD:0020358,GARD:0022531,GARD:0020279,GARD:0020372,Rare genetic disease +GARD:0020358,GARD:0022531,GARD:0020279,GARD:0005128,Rare genetic disease +GARD:0020358,GARD:0022524,GARD:0019471,GARD:0020374,Rare neurologic disease +GARD:0020358,GARD:0022531,GARD:0020279,GARD:0016770,Rare genetic disease +GARD:0020359,GARD:0022524,GARD:0019471,GARD:0000176,Rare neurologic disease +GARD:0020359,GARD:0022524,GARD:0019471,GARD:0009128,Rare neurologic disease +GARD:0020359,GARD:0022524,GARD:0019471,GARD:0020376,Rare neurologic disease +GARD:0020359,GARD:0022524,GARD:0019471,GARD:0021874,Rare neurologic disease +GARD:0020359,GARD:0022524,GARD:0019471,GARD:0020375,Rare neurologic disease +GARD:0020359,GARD:0022524,GARD:0019471,GARD:0001063,Rare neurologic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0003892,Rare genetic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0006329,Rare genetic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0021796,Rare genetic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0010419,Rare neurologic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0012590,Rare genetic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0009941,Rare neurologic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0021942,Rare genetic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0017779,Rare neurologic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0000250,Rare neurologic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0006907,Rare neurologic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0012591,Rare neurologic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0006907,Rare genetic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0018686,Rare neurologic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0017779,Rare genetic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0012592,Rare genetic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0017081,Rare neurologic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0000250,Rare genetic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0006329,Rare neurologic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0002137,Rare neurologic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0017081,Rare genetic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0000873,Rare neurologic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0007245,Rare neurologic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0002137,Rare genetic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0021942,Rare neurologic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0018686,Rare genetic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0003892,Rare neurologic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0012592,Rare neurologic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0021796,Rare neurologic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0000873,Rare genetic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0010419,Rare genetic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0007245,Rare genetic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0012591,Rare genetic disease +GARD:0020360,GARD:0022524,GARD:0007922,GARD:0012590,Rare neurologic disease +GARD:0020360,GARD:0022531,GARD:0007922,GARD:0009941,Rare genetic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0017651,Rare genetic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0021492,Rare genetic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0017900,Rare genetic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0016666,Rare genetic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0016870,Rare genetic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0005552,Rare neurologic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0021655,Rare genetic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0013154,Rare genetic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0021655,Rare neurologic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0012592,Rare neurologic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0017639,Rare genetic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0001887,Rare neurologic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0010769,Rare neurologic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0001886,Rare neurologic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0005552,Rare genetic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0017639,Rare neurologic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0012592,Rare genetic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0016871,Rare neurologic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0013154,Rare neurologic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0017900,Rare neurologic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0016871,Rare genetic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0016666,Rare neurologic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0017652,Rare genetic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0016870,Rare neurologic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0017651,Rare neurologic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0010769,Rare genetic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0001887,Rare genetic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0017652,Rare neurologic disease +GARD:0020361,GARD:0022524,GARD:0018699,GARD:0021492,Rare neurologic disease +GARD:0020361,GARD:0022531,GARD:0018699,GARD:0001886,Rare genetic disease +GARD:0020362,GARD:0022531,GARD:0018699,GARD:0009493,Rare genetic disease +GARD:0020362,GARD:0022531,GARD:0018699,GARD:0012592,Rare genetic disease +GARD:0020362,GARD:0022524,GARD:0018699,GARD:0009676,Rare neurologic disease +GARD:0020362,GARD:0022524,GARD:0018699,GARD:0009493,Rare neurologic disease +GARD:0020362,GARD:0022531,GARD:0018699,GARD:0009676,Rare genetic disease +GARD:0020362,GARD:0022531,GARD:0018699,GARD:0017080,Rare genetic disease +GARD:0020362,GARD:0022531,GARD:0018699,GARD:0017653,Rare genetic disease +GARD:0020362,GARD:0022524,GARD:0018699,GARD:0012592,Rare neurologic disease +GARD:0020362,GARD:0022524,GARD:0018699,GARD:0017080,Rare neurologic disease +GARD:0020362,GARD:0022531,GARD:0018699,GARD:0021656,Rare genetic disease +GARD:0020362,GARD:0022524,GARD:0018699,GARD:0021656,Rare neurologic disease +GARD:0020362,GARD:0022531,GARD:0018699,GARD:0017878,Rare genetic disease +GARD:0020362,GARD:0022524,GARD:0018699,GARD:0017653,Rare neurologic disease +GARD:0020362,GARD:0022524,GARD:0018699,GARD:0017878,Rare neurologic disease +GARD:0020363,GARD:0022524,GARD:0020358,GARD:0012033,Rare neurologic disease +GARD:0020363,GARD:0022524,GARD:0020358,GARD:0017325,Rare neurologic disease +GARD:0020363,GARD:0022531,GARD:0020358,GARD:0017325,Rare genetic disease +GARD:0020363,GARD:0022524,GARD:0020358,GARD:0017324,Rare neurologic disease +GARD:0020363,GARD:0022524,GARD:0020358,GARD:0017956,Rare neurologic disease +GARD:0020363,GARD:0022531,GARD:0020358,GARD:0012978,Rare genetic disease +GARD:0020363,GARD:0022531,GARD:0020358,GARD:0010529,Rare genetic disease +GARD:0020363,GARD:0022531,GARD:0020358,GARD:0001512,Rare genetic disease +GARD:0020363,GARD:0022524,GARD:0020358,GARD:0010529,Rare neurologic disease +GARD:0020363,GARD:0022524,GARD:0020358,GARD:0009158,Rare neurologic disease +GARD:0020363,GARD:0022531,GARD:0020358,GARD:0009158,Rare genetic disease +GARD:0020363,GARD:0022524,GARD:0020358,GARD:0019472,Rare neurologic disease +GARD:0020363,GARD:0022531,GARD:0020358,GARD:0005898,Rare genetic disease +GARD:0020363,GARD:0022524,GARD:0020358,GARD:0012978,Rare neurologic disease +GARD:0020363,GARD:0022531,GARD:0020358,GARD:0012033,Rare genetic disease +GARD:0020363,GARD:0022531,GARD:0020358,GARD:0017324,Rare genetic disease +GARD:0020363,GARD:0022524,GARD:0020358,GARD:0001512,Rare neurologic disease +GARD:0020363,GARD:0022531,GARD:0020358,GARD:0009164,Rare genetic disease +GARD:0020363,GARD:0022531,GARD:0020358,GARD:0020364,Rare genetic disease +GARD:0020363,GARD:0022531,GARD:0020358,GARD:0019472,Rare genetic disease +GARD:0020363,GARD:0022524,GARD:0020358,GARD:0020364,Rare neurologic disease +GARD:0020363,GARD:0022531,GARD:0020358,GARD:0013218,Rare genetic disease +GARD:0020363,GARD:0022524,GARD:0020358,GARD:0013218,Rare neurologic disease +GARD:0020363,GARD:0022524,GARD:0020358,GARD:0005898,Rare neurologic disease +GARD:0020363,GARD:0022524,GARD:0020358,GARD:0009164,Rare neurologic disease +GARD:0020363,GARD:0022531,GARD:0020358,GARD:0017956,Rare genetic disease +GARD:0020364,GARD:0022531,GARD:0020363,GARD:0010899,Rare genetic disease +GARD:0020364,GARD:0022531,GARD:0020363,GARD:0009493,Rare genetic disease +GARD:0020364,GARD:0022524,GARD:0020363,GARD:0009493,Rare neurologic disease +GARD:0020364,GARD:0022524,GARD:0020363,GARD:0009494,Rare neurologic disease +GARD:0020364,GARD:0022524,GARD:0020363,GARD:0016732,Rare neurologic disease +GARD:0020364,GARD:0022524,GARD:0020363,GARD:0010899,Rare neurologic disease +GARD:0020364,GARD:0022531,GARD:0020363,GARD:0012591,Rare genetic disease +GARD:0020364,GARD:0022524,GARD:0020363,GARD:0012591,Rare neurologic disease +GARD:0020364,GARD:0022531,GARD:0020363,GARD:0017568,Rare genetic disease +GARD:0020364,GARD:0022531,GARD:0020363,GARD:0016870,Rare genetic disease +GARD:0020364,GARD:0022524,GARD:0020363,GARD:0016870,Rare neurologic disease +GARD:0020364,GARD:0022531,GARD:0020363,GARD:0009494,Rare genetic disease +GARD:0020364,GARD:0022524,GARD:0020363,GARD:0021440,Rare neurologic disease +GARD:0020364,GARD:0022524,GARD:0020363,GARD:0017568,Rare neurologic disease +GARD:0020364,GARD:0022531,GARD:0020363,GARD:0021440,Rare genetic disease +GARD:0020364,GARD:0022524,GARD:0020363,GARD:0003892,Rare neurologic disease +GARD:0020364,GARD:0022531,GARD:0020363,GARD:0016732,Rare genetic disease +GARD:0020364,GARD:0022531,GARD:0020363,GARD:0003892,Rare genetic disease +GARD:0020365,GARD:0022531,GARD:0019478,GARD:0020366,Rare genetic disease +GARD:0020365,GARD:0022531,GARD:0019478,GARD:0020381,Rare genetic disease +GARD:0020365,GARD:0022524,GARD:0019478,GARD:0020367,Rare neurologic disease +GARD:0020365,GARD:0022531,GARD:0019478,GARD:0020367,Rare genetic disease +GARD:0020365,GARD:0022524,GARD:0019478,GARD:0020368,Rare neurologic disease +GARD:0020365,GARD:0022531,GARD:0019478,GARD:0020368,Rare genetic disease +GARD:0020365,GARD:0022524,GARD:0019478,GARD:0020381,Rare neurologic disease +GARD:0020365,GARD:0022524,GARD:0019478,GARD:0020366,Rare neurologic disease +GARD:0020366,GARD:0022531,GARD:0020365,GARD:0009993,Rare genetic disease +GARD:0020366,GARD:0022524,GARD:0020365,GARD:0009993,Rare neurologic disease +GARD:0020367,GARD:0022524,GARD:0020365,GARD:0006818,Rare neurologic disease +GARD:0020367,GARD:0022531,GARD:0020365,GARD:0006818,Rare genetic disease +GARD:0020368,GARD:0022524,GARD:0020365,GARD:0004942,Rare neurologic disease +GARD:0020368,GARD:0022524,GARD:0020365,GARD:0017101,Rare neurologic disease +GARD:0020368,GARD:0022531,GARD:0020365,GARD:0017101,Rare genetic disease +GARD:0020368,GARD:0022531,GARD:0020365,GARD:0004942,Rare genetic disease +GARD:0020369,GARD:0022531,GARD:0019472,GARD:0016917,Rare genetic disease +GARD:0020369,GARD:0022524,GARD:0019472,GARD:0003262,Rare neurologic disease +GARD:0020369,GARD:0022531,GARD:0019472,GARD:0005508,Rare genetic disease +GARD:0020369,GARD:0022524,GARD:0019472,GARD:0016916,Rare neurologic disease +GARD:0020369,GARD:0022531,GARD:0019472,GARD:0006523,Rare genetic disease +GARD:0020369,GARD:0022524,GARD:0019472,GARD:0005104,Rare neurologic disease +GARD:0020369,GARD:0022531,GARD:0019472,GARD:0016916,Rare genetic disease +GARD:0020369,GARD:0022524,GARD:0019472,GARD:0001121,Rare neurologic disease +GARD:0020369,GARD:0022524,GARD:0019472,GARD:0006523,Rare neurologic disease +GARD:0020369,GARD:0022524,GARD:0019472,GARD:0016917,Rare neurologic disease +GARD:0020369,GARD:0022531,GARD:0019472,GARD:0001121,Rare genetic disease +GARD:0020369,GARD:0022531,GARD:0019472,GARD:0003881,Rare genetic disease +GARD:0020369,GARD:0022531,GARD:0019472,GARD:0003262,Rare genetic disease +GARD:0020369,GARD:0022531,GARD:0019472,GARD:0005104,Rare genetic disease +GARD:0020369,GARD:0022524,GARD:0019472,GARD:0004822,Rare neurologic disease +GARD:0020369,GARD:0022531,GARD:0019472,GARD:0004822,Rare genetic disease +GARD:0020369,GARD:0022524,GARD:0019472,GARD:0005508,Rare neurologic disease +GARD:0020369,GARD:0022524,GARD:0019472,GARD:0003881,Rare neurologic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0005714,Rare neurologic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0007389,Rare genetic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0007389,Rare neurologic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0003160,Rare genetic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0009964,Rare genetic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0017643,Rare neurologic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0005686,Rare neurologic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0003160,Rare neurologic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0002520,Rare genetic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0016711,Rare neurologic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0002520,Rare neurologic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0002125,Rare genetic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0002125,Rare neurologic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0006528,Rare neurologic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0017254,Rare genetic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0009442,Rare genetic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0017793,Rare neurologic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0017793,Rare genetic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0009442,Rare neurologic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0016711,Rare genetic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0017254,Rare neurologic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0003858,Rare neurologic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0017643,Rare genetic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0003858,Rare genetic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0009964,Rare neurologic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0006528,Rare genetic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0009730,Rare genetic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0005686,Rare genetic disease +GARD:0020370,GARD:0022531,GARD:0019472,GARD:0005714,Rare genetic disease +GARD:0020370,GARD:0022524,GARD:0019472,GARD:0009730,Rare neurologic disease +GARD:0020371,GARD:0022531,GARD:0019472,GARD:0000547,Rare genetic disease +GARD:0020371,GARD:0022531,GARD:0019472,GARD:0003908,Rare genetic disease +GARD:0020371,GARD:0022524,GARD:0019472,GARD:0003682,Rare neurologic disease +GARD:0020371,GARD:0022531,GARD:0019472,GARD:0017228,Rare genetic disease +GARD:0020371,GARD:0022531,GARD:0019472,GARD:0016479,Rare genetic disease +GARD:0020371,GARD:0022524,GARD:0019472,GARD:0009920,Rare neurologic disease +GARD:0020371,GARD:0022524,GARD:0019472,GARD:0010522,Rare neurologic disease +GARD:0020371,GARD:0022531,GARD:0019472,GARD:0017518,Rare genetic disease 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+GARD:0020381,GARD:0022531,GARD:0020365,GARD:0010705,Rare genetic disease +GARD:0020381,GARD:0022531,GARD:0020365,GARD:0010704,Rare genetic disease +GARD:0020381,GARD:0022524,GARD:0020365,GARD:0010704,Rare neurologic disease +GARD:0020381,GARD:0022524,GARD:0020365,GARD:0018922,Rare neurologic disease +GARD:0020381,GARD:0022524,GARD:0020365,GARD:0001537,Rare neurologic disease +GARD:0020381,GARD:0022524,GARD:0020365,GARD:0010705,Rare neurologic disease +GARD:0020381,GARD:0022531,GARD:0020365,GARD:0018922,Rare genetic disease +GARD:0020381,GARD:0022531,GARD:0020365,GARD:0001537,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0005691,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0011890,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0010046,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0020556,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0000869,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0019255,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0010729,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0003956,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0000894,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0002658,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0017727,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0007737,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0010614,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0021819,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0002658,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0002734,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0007893,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0007731,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0003230,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0000108,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0000005,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0010046,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0012128,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0022192,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0022231,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0008595,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0000049,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0011890,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0003956,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0005622,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0010729,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0006867,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0017915,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0020556,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0002521,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0000049,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0005691,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0002734,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0008595,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0012128,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0000005,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0002521,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0005622,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0007893,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0003230,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0003684,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0000894,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0018028,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0000869,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0017915,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0006556,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0007731,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0006400,Rare genetic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0007737,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0017727,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0000108,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0018028,Rare neurologic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0010614,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0003684,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0006867,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0019255,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0022192,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0006556,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0006400,Rare neurologic disease +GARD:0020382,GARD:0022531,GARD:0012733,GARD:0021819,Rare genetic disease +GARD:0020382,GARD:0022524,GARD:0012733,GARD:0022231,Rare neurologic disease +GARD:0020383,GARD:0022524,GARD:0012733,GARD:0007731,Rare neurologic disease +GARD:0020383,GARD:0022531,GARD:0012733,GARD:0007731,Rare genetic disease +GARD:0020383,GARD:0022524,GARD:0012733,GARD:0021994,Rare neurologic disease +GARD:0020383,GARD:0022531,GARD:0012733,GARD:0021994,Rare genetic disease +GARD:0020383,GARD:0022524,GARD:0012733,GARD:0016754,Rare neurologic disease +GARD:0020383,GARD:0022531,GARD:0012733,GARD:0002339,Rare genetic disease +GARD:0020383,GARD:0022531,GARD:0012733,GARD:0016754,Rare genetic disease +GARD:0020383,GARD:0022524,GARD:0012733,GARD:0002339,Rare neurologic disease +GARD:0020384,GARD:0022524,GARD:0012733,GARD:0020385,Rare neurologic disease +GARD:0020384,GARD:0022531,GARD:0012733,GARD:0020385,Rare genetic disease +GARD:0020384,GARD:0022524,GARD:0012733,GARD:0018023,Rare neurologic disease +GARD:0020384,GARD:0022531,GARD:0012733,GARD:0018023,Rare genetic disease +GARD:0020385,GARD:0022524,GARD:0020384,GARD:0022352,Rare neurologic disease +GARD:0020385,GARD:0022531,GARD:0020384,GARD:0022352,Rare genetic disease +GARD:0020385,GARD:0022531,GARD:0020384,GARD:0016645,Rare genetic disease +GARD:0020385,GARD:0022531,GARD:0020384,GARD:0008341,Rare genetic disease +GARD:0020385,GARD:0022524,GARD:0020384,GARD:0017937,Rare neurologic disease +GARD:0020385,GARD:0022524,GARD:0020384,GARD:0016645,Rare neurologic disease +GARD:0020385,GARD:0022531,GARD:0020384,GARD:0017937,Rare genetic disease +GARD:0020385,GARD:0022531,GARD:0020384,GARD:0006468,Rare genetic disease +GARD:0020385,GARD:0022524,GARD:0020384,GARD:0008341,Rare neurologic disease +GARD:0020385,GARD:0022524,GARD:0020384,GARD:0006468,Rare neurologic disease +GARD:0020386,GARD:0022524,GARD:0020243,GARD:0020355,Rare neurologic disease +GARD:0020386,GARD:0022524,GARD:0020243,GARD:0006554,Rare neurologic disease +GARD:0020387,GARD:0022524,GARD:0020419,GARD:0007872,Rare neurologic disease +GARD:0020387,GARD:0022524,GARD:0020419,GARD:0020354,Rare neurologic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020425,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0021601,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020438,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0021122,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020432,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0002003,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020434,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020440,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0021784,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020389,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020395,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020401,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020397,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020431,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020437,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0002031,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0021123,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020435,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020430,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020433,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020398,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020400,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020396,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020399,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020439,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020394,Rare genetic disease +GARD:0020388,GARD:0022531,GARD:0020279,GARD:0020436,Rare genetic disease +GARD:0020389,GARD:0022531,GARD:0020388,GARD:0020392,Rare genetic disease +GARD:0020389,GARD:0022531,GARD:0020388,GARD:0020390,Rare genetic disease +GARD:0020389,GARD:0022531,GARD:0020388,GARD:0020393,Rare genetic disease +GARD:0020389,GARD:0022531,GARD:0020388,GARD:0020391,Rare genetic disease +GARD:0020390,GARD:0022531,GARD:0020389,GARD:0000438,Rare genetic disease +GARD:0020391,GARD:0022531,GARD:0020389,GARD:0003851,Rare genetic disease +GARD:0020392,GARD:0022531,GARD:0020389,GARD:0002429,Rare genetic disease +GARD:0020393,GARD:0022531,GARD:0020389,GARD:0008573,Rare genetic disease +GARD:0020394,GARD:0022531,GARD:0020388,GARD:0020356,Rare genetic disease +GARD:0020394,GARD:0022531,GARD:0020388,GARD:0009164,Rare genetic disease +GARD:0020394,GARD:0022531,GARD:0020388,GARD:0017900,Rare genetic disease +GARD:0020395,GARD:0022531,GARD:0020388,GARD:0000873,Rare genetic disease +GARD:0020395,GARD:0022531,GARD:0020388,GARD:0004769,Rare genetic disease +GARD:0020395,GARD:0022531,GARD:0020388,GARD:0017325,Rare genetic disease +GARD:0020396,GARD:0022531,GARD:0020388,GARD:0003843,Rare genetic disease +GARD:0020396,GARD:0022531,GARD:0020388,GARD:0022270,Rare genetic disease +GARD:0020397,GARD:0022531,GARD:0020388,GARD:0012587,Rare genetic disease +GARD:0020398,GARD:0022531,GARD:0020388,GARD:0000250,Rare genetic disease +GARD:0020399,GARD:0022531,GARD:0020388,GARD:0022272,Rare genetic disease +GARD:0020399,GARD:0022531,GARD:0020388,GARD:0001057,Rare genetic disease +GARD:0020400,GARD:0022531,GARD:0020388,GARD:0003844,Rare genetic disease +GARD:0020401,GARD:0022531,GARD:0020388,GARD:0011925,Rare genetic disease +GARD:0020401,GARD:0022531,GARD:0020388,GARD:0017792,Rare genetic disease +GARD:0020401,GARD:0022531,GARD:0020388,GARD:0022439,Rare genetic disease +GARD:0020402,GARD:0022531,GARD:0021601,GARD:0017519,Rare genetic disease +GARD:0020402,GARD:0022531,GARD:0021601,GARD:0020424,Rare genetic disease +GARD:0020402,GARD:0022531,GARD:0021601,GARD:0017769,Rare genetic disease +GARD:0020402,GARD:0022531,GARD:0021601,GARD:0022271,Rare genetic disease +GARD:0020402,GARD:0022531,GARD:0021601,GARD:0020403,Rare genetic disease +GARD:0020402,GARD:0022531,GARD:0021601,GARD:0020423,Rare genetic disease +GARD:0020402,GARD:0022531,GARD:0021601,GARD:0020422,Rare genetic disease +GARD:0020402,GARD:0022531,GARD:0021601,GARD:0020404,Rare genetic disease +GARD:0020402,GARD:0022531,GARD:0021601,GARD:0020421,Rare genetic disease +GARD:0020403,GARD:0022531,GARD:0020402,GARD:0000156,Rare genetic disease +GARD:0020403,GARD:0022531,GARD:0020402,GARD:0012533,Rare genetic disease +GARD:0020403,GARD:0022531,GARD:0020402,GARD:0002599,Rare genetic disease +GARD:0020404,GARD:0022531,GARD:0020402,GARD:0012536,Rare genetic disease +GARD:0020404,GARD:0022531,GARD:0020402,GARD:0006475,Rare genetic disease +GARD:0020404,GARD:0022531,GARD:0020402,GARD:0002599,Rare genetic disease +GARD:0020404,GARD:0022531,GARD:0020402,GARD:0012538,Rare genetic disease +GARD:0020404,GARD:0022531,GARD:0020402,GARD:0000156,Rare genetic disease +GARD:0020405,GARD:0022524,GARD:0004346,GARD:0004955,Rare neurologic disease +GARD:0020405,GARD:0022531,GARD:0004346,GARD:0004955,Rare genetic disease +GARD:0020406,GARD:0022510,GARD:0018833,,Rare skin disease +GARD:0020407,GARD:0022531,GARD:0020315,GARD:0020223,Rare genetic disease +GARD:0020407,GARD:0022531,GARD:0020315,GARD:0010758,Rare genetic disease +GARD:0020407,GARD:0022531,GARD:0020315,GARD:0008466,Rare genetic disease +GARD:0020407,GARD:0022531,GARD:0020315,GARD:0002910,Rare genetic disease +GARD:0020408,GARD:0022531,GARD:0020315,GARD:0002838,Rare genetic disease +GARD:0020408,GARD:0022531,GARD:0020315,GARD:0002837,Rare genetic disease +GARD:0020409,GARD:0022524,GARD:0020243,GARD:0007411,Rare neurologic disease +GARD:0020409,GARD:0022524,GARD:0020243,GARD:0009778,Rare neurologic disease +GARD:0020409,GARD:0022524,GARD:0020243,GARD:0011011,Rare neurologic disease +GARD:0020409,GARD:0022524,GARD:0020243,GARD:0020410,Rare neurologic disease +GARD:0020409,GARD:0022524,GARD:0020243,GARD:0013173,Rare neurologic disease +GARD:0020410,GARD:0022524,GARD:0020409,GARD:0006102,Rare neurologic disease +GARD:0020410,GARD:0022524,GARD:0020409,GARD:0020411,Rare neurologic disease +GARD:0020411,GARD:0022524,GARD:0020410,,Rare neurologic disease +GARD:0020411,GARD:0022524,GARD:0020417,,Rare neurologic disease +GARD:0020412,GARD:0022524,GARD:0020243,GARD:0020414,Rare neurologic disease +GARD:0020412,GARD:0022524,GARD:0020243,GARD:0020413,Rare neurologic disease +GARD:0020413,GARD:0022524,GARD:0020412,,Rare neurologic disease +GARD:0020414,GARD:0022524,GARD:0007326,,Rare neurologic disease +GARD:0020414,GARD:0022524,GARD:0020412,,Rare neurologic disease +GARD:0020415,GARD:0022524,GARD:0020417,,Rare neurologic disease +GARD:0020416,GARD:0022524,GARD:0020243,GARD:0006386,Rare neurologic disease +GARD:0020416,GARD:0022524,GARD:0020243,GARD:0007051,Rare neurologic disease +GARD:0020416,GARD:0022524,GARD:0020243,GARD:0007607,Rare neurologic disease +GARD:0020416,GARD:0022524,GARD:0020243,GARD:0007360,Rare neurologic disease +GARD:0020416,GARD:0022524,GARD:0020243,GARD:0006111,Rare neurologic disease +GARD:0020416,GARD:0022524,GARD:0020243,GARD:0003652,Rare neurologic disease +GARD:0020416,GARD:0022524,GARD:0020243,GARD:0007880,Rare neurologic disease +GARD:0020417,GARD:0022524,GARD:0020243,GARD:0020415,Rare neurologic disease +GARD:0020417,GARD:0022524,GARD:0020243,GARD:0007411,Rare neurologic disease +GARD:0020417,GARD:0022524,GARD:0020243,GARD:0013173,Rare neurologic disease +GARD:0020417,GARD:0022524,GARD:0020243,GARD:0006217,Rare neurologic disease +GARD:0020417,GARD:0022524,GARD:0020243,GARD:0020411,Rare neurologic disease +GARD:0020417,GARD:0022524,GARD:0020243,GARD:0009778,Rare neurologic disease +GARD:0020418,GARD:0022524,GARD:0020243,GARD:0010560,Rare neurologic disease +GARD:0020418,GARD:0022524,GARD:0020243,GARD:0005797,Rare neurologic disease +GARD:0020419,GARD:0022524,GARD:0020243,GARD:0007108,Rare neurologic disease +GARD:0020419,GARD:0022524,GARD:0020243,GARD:0013446,Rare neurologic disease +GARD:0020419,GARD:0022524,GARD:0020243,GARD:0007411,Rare neurologic disease +GARD:0020419,GARD:0022524,GARD:0020243,GARD:0020387,Rare neurologic disease +GARD:0020420,GARD:0022524,GARD:0020243,,Rare neurologic disease +GARD:0020421,GARD:0022531,GARD:0020402,GARD:0012540,Rare genetic disease +GARD:0020421,GARD:0022531,GARD:0020402,GARD:0002599,Rare genetic disease +GARD:0020421,GARD:0022531,GARD:0020402,GARD:0000156,Rare genetic disease +GARD:0020422,GARD:0022531,GARD:0020402,,Rare genetic disease +GARD:0020423,GARD:0022531,GARD:0020402,GARD:0012535,Rare genetic disease +GARD:0020423,GARD:0022531,GARD:0020402,GARD:0002599,Rare genetic disease +GARD:0020424,GARD:0022531,GARD:0020402,GARD:0002599,Rare genetic disease +GARD:0020424,GARD:0022531,GARD:0020402,GARD:0000156,Rare genetic disease +GARD:0020424,GARD:0022531,GARD:0020402,GARD:0012539,Rare genetic disease +GARD:0020425,GARD:0022531,GARD:0020388,GARD:0020429,Rare genetic disease +GARD:0020425,GARD:0022531,GARD:0020388,GARD:0020426,Rare genetic disease +GARD:0020425,GARD:0022531,GARD:0020388,GARD:0020427,Rare genetic disease +GARD:0020425,GARD:0022531,GARD:0020388,GARD:0020428,Rare genetic disease +GARD:0020426,GARD:0022531,GARD:0020425,GARD:0004723,Rare genetic disease +GARD:0020426,GARD:0022531,GARD:0020425,GARD:0016732,Rare genetic disease +GARD:0020426,GARD:0022531,GARD:0020425,GARD:0010312,Rare genetic disease +GARD:0020426,GARD:0022531,GARD:0020425,GARD:0016870,Rare genetic disease +GARD:0020427,GARD:0022531,GARD:0020425,GARD:0019600,Rare genetic disease +GARD:0020428,GARD:0022531,GARD:0020425,GARD:0017062,Rare genetic disease +GARD:0020429,GARD:0022531,GARD:0020425,GARD:0001886,Rare genetic disease +GARD:0020430,GARD:0022531,GARD:0020388,GARD:0012718,Rare genetic disease +GARD:0020430,GARD:0022531,GARD:0020388,GARD:0012534,Rare genetic disease +GARD:0020430,GARD:0022531,GARD:0020388,GARD:0012591,Rare genetic disease +GARD:0020430,GARD:0022531,GARD:0020388,GARD:0013154,Rare genetic disease +GARD:0020430,GARD:0022531,GARD:0020388,GARD:0017324,Rare genetic disease +GARD:0020431,GARD:0022531,GARD:0020388,GARD:0010471,Rare genetic disease +GARD:0020432,GARD:0022531,GARD:0020388,GARD:0006161,Rare genetic disease +GARD:0020432,GARD:0022531,GARD:0020388,GARD:0012822,Rare genetic disease +GARD:0020432,GARD:0022531,GARD:0020388,GARD:0016869,Rare genetic disease +GARD:0020432,GARD:0022531,GARD:0020388,GARD:0007171,Rare genetic disease +GARD:0020432,GARD:0022531,GARD:0020388,GARD:0012821,Rare genetic disease +GARD:0020432,GARD:0022531,GARD:0020388,GARD:0012824,Rare genetic disease +GARD:0020432,GARD:0022531,GARD:0020388,GARD:0012823,Rare genetic disease +GARD:0020433,GARD:0022531,GARD:0020388,GARD:0012824,Rare genetic disease +GARD:0020433,GARD:0022531,GARD:0020388,GARD:0007171,Rare genetic disease +GARD:0020433,GARD:0022531,GARD:0020388,GARD:0012823,Rare genetic disease +GARD:0020433,GARD:0022531,GARD:0020388,GARD:0012822,Rare genetic disease +GARD:0020433,GARD:0022531,GARD:0020388,GARD:0012821,Rare genetic disease +GARD:0020434,GARD:0022531,GARD:0020388,GARD:0007148,Rare genetic disease +GARD:0020434,GARD:0022531,GARD:0020388,GARD:0010769,Rare genetic disease +GARD:0020434,GARD:0022531,GARD:0020388,GARD:0010313,Rare genetic disease +GARD:0020435,GARD:0022531,GARD:0020388,GARD:0002102,Rare genetic disease +GARD:0020436,GARD:0022531,GARD:0020388,GARD:0016732,Rare genetic disease +GARD:0020436,GARD:0022531,GARD:0020388,GARD:0016536,Rare genetic disease +GARD:0020436,GARD:0022531,GARD:0020388,GARD:0006161,Rare genetic disease +GARD:0020436,GARD:0022531,GARD:0020388,GARD:0004723,Rare genetic disease +GARD:0020437,GARD:0022531,GARD:0020388,GARD:0012542,Rare genetic disease +GARD:0020437,GARD:0022531,GARD:0020388,GARD:0002137,Rare genetic disease +GARD:0020438,GARD:0022531,GARD:0020388,GARD:0016770,Rare genetic disease +GARD:0020438,GARD:0022531,GARD:0020388,GARD:0009158,Rare genetic disease +GARD:0020439,GARD:0022531,GARD:0020388,GARD:0009493,Rare genetic disease +GARD:0020440,GARD:0022524,GARD:0010529,GARD:0010229,Rare neurologic disease +GARD:0020440,GARD:0022531,GARD:0020388,GARD:0010229,Rare genetic disease +GARD:0020440,GARD:0022531,GARD:0010529,GARD:0008711,Rare genetic disease +GARD:0020440,GARD:0022531,GARD:0020388,GARD:0016871,Rare genetic disease +GARD:0020440,GARD:0022531,GARD:0020388,GARD:0008711,Rare genetic disease +GARD:0020440,GARD:0022524,GARD:0010529,GARD:0016871,Rare neurologic disease +GARD:0020440,GARD:0022531,GARD:0010529,GARD:0016871,Rare genetic disease +GARD:0020440,GARD:0022531,GARD:0010529,GARD:0010229,Rare genetic disease +GARD:0020440,GARD:0022524,GARD:0010529,GARD:0008711,Rare neurologic disease +GARD:0020441,GARD:0022521,GARD:0021971,,Rare endocrine disease +GARD:0020441,GARD:0022531,GARD:0021971,,Rare genetic disease +GARD:0020441,GARD:0022531,GARD:0018949,,Rare genetic disease +GARD:0020441,GARD:0022508,GARD:0018949,,Rare inborn errors of metabolism +GARD:0020441,GARD:0022508,GARD:0021971,,Rare inborn errors of metabolism +GARD:0020442,GARD:0022520,GARD:0022100,,Rare ophthalmic disorder +GARD:0020442,GARD:0022520,GARD:0008577,,Rare ophthalmic disorder +GARD:0020443,GARD:0022520,GARD:0021260,,Rare ophthalmic disorder +GARD:0020444,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0020445,GARD:0022531,GARD:0020446,,Rare genetic disease +GARD:0020445,GARD:0022524,GARD:0020446,,Rare neurologic disease +GARD:0020446,GARD:0022531,GARD:0018915,GARD:0000011,Rare genetic disease +GARD:0020446,GARD:0022531,GARD:0018915,GARD:0020445,Rare genetic disease +GARD:0020446,GARD:0022524,GARD:0022524,GARD:0000011,Rare neurologic disease +GARD:0020446,GARD:0022524,GARD:0022524,GARD:0020445,Rare neurologic disease +GARD:0020447,GARD:0022532,GARD:0019402,,Rare urogenital disease +GARD:0020447,GARD:0022535,GARD:0019402,,Rare neoplastic disease +GARD:0020448,GARD:0022531,GARD:0019001,,Rare genetic disease +GARD:0020448,GARD:0022510,GARD:0019001,,Rare skin disease +GARD:0020448,GARD:0022510,GARD:0019004,,Rare skin disease +GARD:0020449,GARD:0022517,GARD:0020932,,Rare respiratory disease +GARD:0020449,GARD:0022536,GARD:0020932,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020449,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0020450,GARD:0022507,GARD:0020451,,Rare maxillo-facial surgical disease +GARD:0020451,GARD:0022507,GARD:0022507,GARD:0021966,Rare maxillo-facial surgical disease +GARD:0020451,GARD:0022507,GARD:0022507,GARD:0020450,Rare maxillo-facial surgical disease +GARD:0020452,GARD:0022535,GARD:0020458,,Rare neoplastic disease +GARD:0020452,GARD:0022513,GARD:0020458,,Rare developmental defect during embryogenesis +GARD:0020452,GARD:0022527,GARD:0020458,,Rare circulatory system disease +GARD:0020453,GARD:0022513,GARD:0020458,GARD:0016961,Rare developmental defect during embryogenesis +GARD:0020453,GARD:0022535,GARD:0020458,GARD:0019893,Rare neoplastic disease +GARD:0020453,GARD:0022535,GARD:0020458,GARD:0016961,Rare neoplastic disease +GARD:0020453,GARD:0022527,GARD:0020458,GARD:0019893,Rare circulatory system disease +GARD:0020453,GARD:0022527,GARD:0020458,GARD:0016961,Rare circulatory system disease +GARD:0020453,GARD:0022513,GARD:0020458,GARD:0019893,Rare developmental defect during embryogenesis +GARD:0020454,GARD:0022531,GARD:0019478,GARD:0017282,Rare genetic disease +GARD:0020454,GARD:0022524,GARD:0019478,GARD:0017282,Rare neurologic disease +GARD:0020454,GARD:0022524,GARD:0019478,GARD:0017559,Rare neurologic disease +GARD:0020454,GARD:0022524,GARD:0019478,GARD:0017102,Rare neurologic disease +GARD:0020454,GARD:0022531,GARD:0019478,GARD:0017102,Rare genetic disease +GARD:0020454,GARD:0022531,GARD:0019478,GARD:0017559,Rare genetic disease +GARD:0020455,GARD:0022524,GARD:0022524,GARD:0020456,Rare neurologic disease +GARD:0020456,GARD:0022524,GARD:0020455,GARD:0012889,Rare neurologic disease +GARD:0020456,GARD:0022524,GARD:0020455,GARD:0001823,Rare neurologic disease +GARD:0020457,GARD:0022531,GARD:0020286,GARD:0017108,Rare genetic disease +GARD:0020457,GARD:0022524,GARD:0020286,GARD:0017113,Rare neurologic disease +GARD:0020457,GARD:0022531,GARD:0020286,GARD:0016703,Rare genetic disease +GARD:0020457,GARD:0022524,GARD:0020286,GARD:0016703,Rare neurologic disease +GARD:0020457,GARD:0022524,GARD:0020286,GARD:0017107,Rare neurologic disease +GARD:0020457,GARD:0022524,GARD:0020286,GARD:0017665,Rare neurologic disease +GARD:0020457,GARD:0022531,GARD:0020286,GARD:0017665,Rare genetic disease +GARD:0020457,GARD:0022531,GARD:0020286,GARD:0009602,Rare genetic disease +GARD:0020457,GARD:0022524,GARD:0020286,GARD:0009602,Rare neurologic disease +GARD:0020457,GARD:0022531,GARD:0020286,GARD:0016702,Rare genetic disease +GARD:0020457,GARD:0022524,GARD:0020286,GARD:0016702,Rare neurologic disease +GARD:0020457,GARD:0022524,GARD:0020286,GARD:0016641,Rare neurologic disease +GARD:0020457,GARD:0022524,GARD:0020286,GARD:0017108,Rare neurologic disease +GARD:0020457,GARD:0022531,GARD:0020286,GARD:0017113,Rare genetic disease +GARD:0020457,GARD:0022531,GARD:0020286,GARD:0016641,Rare genetic disease +GARD:0020457,GARD:0022531,GARD:0020286,GARD:0017107,Rare genetic disease +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0021927,Rare neoplastic disease +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0000676,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0021909,Rare circulatory system disease +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0003077,Rare neoplastic disease +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0006814,Rare circulatory system disease +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0021913,Rare neoplastic disease +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0021910,Rare neoplastic disease +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0000425,Rare circulatory system disease +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0000676,Rare neoplastic disease +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0021908,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0021910,Rare circulatory system disease +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0021927,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0006814,Rare neoplastic disease +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0021907,Rare circulatory system disease +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0013451,Rare neoplastic disease +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0021910,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0020014,Rare circulatory system disease +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0020014,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0021913,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0000425,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0020900,Rare circulatory system disease +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0001861,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0020900,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0013451,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0018908,Rare neoplastic disease +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0006814,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0018908,Rare circulatory system disease +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0021907,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0021907,Rare neoplastic disease +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0021908,Rare circulatory system disease +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0001861,Rare neoplastic disease +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0021913,Rare circulatory system disease +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0003077,Rare circulatory system disease +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0020014,Rare neoplastic disease +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0000425,Rare neoplastic disease +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0021909,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0020453,Rare circulatory system disease +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0001861,Rare circulatory system disease +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0021909,Rare neoplastic disease +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0020453,Rare neoplastic disease +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0020453,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0020452,Rare neoplastic disease +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0020452,Rare circulatory system disease +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0018908,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0013451,Rare circulatory system disease +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0020900,Rare neoplastic disease +GARD:0020458,GARD:0022535,GARD:0019401,GARD:0021908,Rare neoplastic disease +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0020452,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0000676,Rare circulatory system disease +GARD:0020458,GARD:0022513,GARD:0018894,GARD:0003077,Rare developmental defect during embryogenesis +GARD:0020458,GARD:0022527,GARD:0018894,GARD:0021927,Rare circulatory system disease +GARD:0020459,GARD:0022531,GARD:0020290,GARD:0017828,Rare genetic disease +GARD:0020459,GARD:0022531,GARD:0020290,GARD:0003020,Rare genetic disease +GARD:0020459,GARD:0022531,GARD:0020290,GARD:0021921,Rare genetic disease +GARD:0020459,GARD:0022531,GARD:0020290,GARD:0011904,Rare genetic disease +GARD:0020459,GARD:0022531,GARD:0020290,GARD:0021922,Rare genetic disease +GARD:0020459,GARD:0022531,GARD:0020290,GARD:0018932,Rare genetic disease +GARD:0020459,GARD:0022531,GARD:0020290,GARD:0005467,Rare genetic disease +GARD:0020459,GARD:0022531,GARD:0020290,GARD:0021923,Rare genetic disease +GARD:0020459,GARD:0022531,GARD:0020290,GARD:0021924,Rare genetic disease +GARD:0020460,GARD:0022527,GARD:0018894,GARD:0020463,Rare circulatory system disease +GARD:0020460,GARD:0022513,GARD:0018894,GARD:0019560,Rare developmental defect during embryogenesis +GARD:0020460,GARD:0022527,GARD:0018894,GARD:0019560,Rare circulatory system disease +GARD:0020460,GARD:0022527,GARD:0018894,GARD:0020461,Rare circulatory system disease +GARD:0020460,GARD:0022527,GARD:0018894,GARD:0020462,Rare circulatory system disease +GARD:0020460,GARD:0022513,GARD:0018894,GARD:0020462,Rare developmental defect during embryogenesis +GARD:0020460,GARD:0022513,GARD:0018894,GARD:0020463,Rare developmental defect during embryogenesis +GARD:0020460,GARD:0022527,GARD:0018894,GARD:0020464,Rare circulatory system disease +GARD:0020460,GARD:0022513,GARD:0018894,GARD:0020461,Rare developmental defect during embryogenesis +GARD:0020460,GARD:0022513,GARD:0018894,GARD:0020464,Rare developmental defect during embryogenesis +GARD:0020461,GARD:0022527,GARD:0020460,GARD:0021914,Rare circulatory system disease +GARD:0020461,GARD:0022527,GARD:0020460,GARD:0006626,Rare circulatory system disease +GARD:0020461,GARD:0022527,GARD:0020460,GARD:0003986,Rare circulatory system disease +GARD:0020461,GARD:0022527,GARD:0020460,GARD:0011904,Rare circulatory system disease +GARD:0020461,GARD:0022513,GARD:0020460,GARD:0021914,Rare developmental defect during embryogenesis +GARD:0020461,GARD:0022527,GARD:0020460,GARD:0006228,Rare circulatory system disease +GARD:0020461,GARD:0022513,GARD:0020460,GARD:0011904,Rare developmental defect during embryogenesis +GARD:0020461,GARD:0022513,GARD:0020460,GARD:0003986,Rare developmental defect during embryogenesis +GARD:0020461,GARD:0022527,GARD:0020460,GARD:0015021,Rare circulatory system disease +GARD:0020461,GARD:0022513,GARD:0020460,GARD:0015021,Rare developmental defect during embryogenesis +GARD:0020461,GARD:0022513,GARD:0020460,GARD:0006626,Rare developmental defect during embryogenesis +GARD:0020461,GARD:0022513,GARD:0020460,GARD:0006228,Rare developmental defect during embryogenesis +GARD:0020462,GARD:0022527,GARD:0020460,GARD:0013641,Rare circulatory system disease +GARD:0020462,GARD:0022513,GARD:0020460,GARD:0013063,Rare developmental defect during embryogenesis +GARD:0020462,GARD:0022527,GARD:0020460,GARD:0016728,Rare circulatory system disease +GARD:0020462,GARD:0022513,GARD:0020460,GARD:0016728,Rare developmental defect during embryogenesis +GARD:0020462,GARD:0022513,GARD:0020460,GARD:0013641,Rare developmental defect during embryogenesis +GARD:0020462,GARD:0022527,GARD:0020460,GARD:0016600,Rare circulatory system disease +GARD:0020462,GARD:0022513,GARD:0020460,GARD:0005940,Rare developmental defect during embryogenesis +GARD:0020462,GARD:0022513,GARD:0020460,GARD:0016600,Rare developmental defect during embryogenesis +GARD:0020462,GARD:0022527,GARD:0020460,GARD:0005940,Rare circulatory system disease +GARD:0020462,GARD:0022527,GARD:0020460,GARD:0013063,Rare circulatory system disease +GARD:0020463,GARD:0022513,GARD:0020460,GARD:0009789,Rare developmental defect during embryogenesis +GARD:0020463,GARD:0022513,GARD:0020460,GARD:0018932,Rare developmental defect during embryogenesis +GARD:0020463,GARD:0022527,GARD:0020460,GARD:0018932,Rare circulatory system disease +GARD:0020463,GARD:0022527,GARD:0020460,GARD:0009789,Rare circulatory system disease +GARD:0020464,GARD:0022513,GARD:0020460,GARD:0004584,Rare developmental defect during embryogenesis +GARD:0020464,GARD:0022527,GARD:0020460,GARD:0012663,Rare circulatory system disease +GARD:0020464,GARD:0022527,GARD:0020460,GARD:0004163,Rare circulatory system disease +GARD:0020464,GARD:0022513,GARD:0020460,GARD:0011892,Rare developmental defect during embryogenesis +GARD:0020464,GARD:0022513,GARD:0020460,GARD:0019368,Rare developmental defect during embryogenesis +GARD:0020464,GARD:0022527,GARD:0020460,GARD:0012662,Rare circulatory system disease +GARD:0020464,GARD:0022513,GARD:0020460,GARD:0012663,Rare developmental defect during embryogenesis +GARD:0020464,GARD:0022513,GARD:0020460,GARD:0012662,Rare developmental defect during embryogenesis +GARD:0020464,GARD:0022527,GARD:0020460,GARD:0004584,Rare circulatory system disease +GARD:0020464,GARD:0022513,GARD:0020460,GARD:0004163,Rare developmental defect during embryogenesis +GARD:0020464,GARD:0022527,GARD:0020460,GARD:0011892,Rare circulatory system disease +GARD:0020464,GARD:0022513,GARD:0020460,GARD:0003020,Rare developmental defect during embryogenesis +GARD:0020464,GARD:0022513,GARD:0020460,GARD:0005467,Rare developmental defect during embryogenesis +GARD:0020464,GARD:0022527,GARD:0020460,GARD:0005467,Rare circulatory system disease +GARD:0020464,GARD:0022527,GARD:0020460,GARD:0019368,Rare circulatory system disease +GARD:0020464,GARD:0022527,GARD:0020460,GARD:0003020,Rare circulatory system disease +GARD:0020465,GARD:0022527,GARD:0018894,GARD:0017044,Rare circulatory system disease +GARD:0020465,GARD:0022513,GARD:0018894,GARD:0019881,Rare developmental defect during embryogenesis +GARD:0020465,GARD:0022513,GARD:0018894,GARD:0010939,Rare developmental defect during embryogenesis +GARD:0020465,GARD:0022527,GARD:0018894,GARD:0006958,Rare circulatory system disease +GARD:0020465,GARD:0022513,GARD:0018894,GARD:0009217,Rare developmental defect during embryogenesis +GARD:0020465,GARD:0022527,GARD:0018894,GARD:0003122,Rare circulatory system disease +GARD:0020465,GARD:0022527,GARD:0018894,GARD:0018927,Rare circulatory system disease +GARD:0020465,GARD:0022513,GARD:0018894,GARD:0018927,Rare developmental defect during embryogenesis +GARD:0020465,GARD:0022513,GARD:0018894,GARD:0007475,Rare developmental defect during embryogenesis +GARD:0020465,GARD:0022513,GARD:0018894,GARD:0003122,Rare developmental defect during embryogenesis +GARD:0020465,GARD:0022527,GARD:0018894,GARD:0019881,Rare circulatory system disease +GARD:0020465,GARD:0022527,GARD:0018894,GARD:0005887,Rare circulatory system disease +GARD:0020465,GARD:0022513,GARD:0018894,GARD:0006958,Rare developmental defect during embryogenesis +GARD:0020465,GARD:0022527,GARD:0018894,GARD:0007475,Rare circulatory system disease +GARD:0020465,GARD:0022527,GARD:0018894,GARD:0009217,Rare circulatory system disease +GARD:0020465,GARD:0022527,GARD:0018894,GARD:0010939,Rare circulatory system disease +GARD:0020465,GARD:0022513,GARD:0018894,GARD:0005887,Rare developmental defect during embryogenesis +GARD:0020465,GARD:0022513,GARD:0018894,GARD:0017044,Rare developmental defect during embryogenesis +GARD:0020466,GARD:0022535,GARD:0009362,,Rare neoplastic disease +GARD:0020466,GARD:0022514,GARD:0009362,,Rare gynecologic or obstetric disease +GARD:0020467,GARD:0022531,GARD:0020324,GARD:0015010,Rare genetic disease +GARD:0020467,GARD:0022535,GARD:0021650,GARD:0020468,Rare neoplastic disease +GARD:0020467,GARD:0022535,GARD:0022360,GARD:0015010,Rare neoplastic disease +GARD:0020467,GARD:0022531,GARD:0022360,GARD:0020468,Rare genetic disease +GARD:0020467,GARD:0022514,GARD:0021650,GARD:0015010,Rare gynecologic or obstetric disease +GARD:0020467,GARD:0022535,GARD:0022360,GARD:0020468,Rare neoplastic disease +GARD:0020467,GARD:0022531,GARD:0020324,GARD:0020468,Rare genetic disease +GARD:0020467,GARD:0022514,GARD:0021650,GARD:0020468,Rare gynecologic or obstetric disease +GARD:0020467,GARD:0022531,GARD:0022360,GARD:0015010,Rare genetic disease +GARD:0020467,GARD:0022535,GARD:0021650,GARD:0015010,Rare neoplastic disease +GARD:0020468,GARD:0022531,GARD:0020323,,Rare genetic disease +GARD:0020468,GARD:0022531,GARD:0020467,,Rare genetic disease +GARD:0020468,GARD:0022535,GARD:0020467,,Rare neoplastic disease +GARD:0020468,GARD:0022514,GARD:0020467,,Rare gynecologic or obstetric disease +GARD:0020469,GARD:0022535,GARD:0019407,GARD:0020486,Rare neoplastic disease +GARD:0020469,GARD:0022514,GARD:0019407,GARD:0020470,Rare gynecologic or obstetric disease +GARD:0020469,GARD:0022535,GARD:0019407,GARD:0020470,Rare neoplastic disease +GARD:0020469,GARD:0022514,GARD:0019407,GARD:0020486,Rare gynecologic or obstetric disease +GARD:0020470,GARD:0022514,GARD:0020469,GARD:0006339,Rare gynecologic or obstetric disease +GARD:0020470,GARD:0022535,GARD:0020469,GARD:0020481,Rare neoplastic disease +GARD:0020470,GARD:0022535,GARD:0020469,GARD:0020485,Rare neoplastic disease +GARD:0020470,GARD:0022535,GARD:0020469,GARD:0020484,Rare neoplastic disease +GARD:0020470,GARD:0022514,GARD:0020469,GARD:0020479,Rare gynecologic or obstetric disease +GARD:0020470,GARD:0022535,GARD:0020469,GARD:0020476,Rare neoplastic disease +GARD:0020470,GARD:0022514,GARD:0020469,GARD:0020481,Rare gynecologic or obstetric disease +GARD:0020470,GARD:0022514,GARD:0020469,GARD:0020483,Rare gynecologic or obstetric disease +GARD:0020470,GARD:0022514,GARD:0020469,GARD:0020485,Rare gynecologic or obstetric disease +GARD:0020470,GARD:0022514,GARD:0020469,GARD:0020476,Rare gynecologic or obstetric disease +GARD:0020470,GARD:0022535,GARD:0020469,GARD:0020480,Rare neoplastic disease +GARD:0020470,GARD:0022514,GARD:0020469,GARD:0020484,Rare gynecologic or obstetric disease +GARD:0020470,GARD:0022514,GARD:0020469,GARD:0020480,Rare gynecologic or obstetric disease +GARD:0020470,GARD:0022535,GARD:0020469,GARD:0020472,Rare neoplastic disease +GARD:0020470,GARD:0022514,GARD:0020469,GARD:0020472,Rare gynecologic or obstetric disease +GARD:0020470,GARD:0022514,GARD:0020469,GARD:0020471,Rare gynecologic or obstetric disease +GARD:0020470,GARD:0022514,GARD:0020469,GARD:0020482,Rare gynecologic or obstetric disease +GARD:0020470,GARD:0022535,GARD:0020469,GARD:0020479,Rare neoplastic disease +GARD:0020470,GARD:0022535,GARD:0020469,GARD:0006339,Rare neoplastic disease +GARD:0020470,GARD:0022535,GARD:0020469,GARD:0020482,Rare neoplastic disease +GARD:0020470,GARD:0022535,GARD:0020469,GARD:0020471,Rare neoplastic disease +GARD:0020470,GARD:0022535,GARD:0020469,GARD:0020483,Rare neoplastic disease +GARD:0020471,GARD:0022514,GARD:0020470,,Rare gynecologic or obstetric disease +GARD:0020471,GARD:0022535,GARD:0020470,,Rare neoplastic disease +GARD:0020472,GARD:0022514,GARD:0020470,GARD:0020474,Rare gynecologic or obstetric disease +GARD:0020472,GARD:0022535,GARD:0020470,GARD:0020473,Rare neoplastic disease +GARD:0020472,GARD:0022535,GARD:0020470,GARD:0020474,Rare neoplastic disease +GARD:0020472,GARD:0022535,GARD:0020470,GARD:0012335,Rare neoplastic disease +GARD:0020472,GARD:0022514,GARD:0020470,GARD:0012335,Rare gynecologic or obstetric disease +GARD:0020472,GARD:0022514,GARD:0020470,GARD:0020473,Rare gynecologic or obstetric disease +GARD:0020473,GARD:0022514,GARD:0020472,,Rare gynecologic or obstetric disease +GARD:0020473,GARD:0022535,GARD:0020472,,Rare neoplastic disease +GARD:0020474,GARD:0022535,GARD:0020472,,Rare neoplastic disease +GARD:0020474,GARD:0022514,GARD:0020472,,Rare gynecologic or obstetric disease +GARD:0020475,GARD:0022514,GARD:0020476,,Rare gynecologic or obstetric disease +GARD:0020475,GARD:0022535,GARD:0020476,,Rare neoplastic disease +GARD:0020476,GARD:0022535,GARD:0020470,GARD:0020475,Rare neoplastic disease +GARD:0020476,GARD:0022514,GARD:0020470,GARD:0020475,Rare gynecologic or obstetric disease +GARD:0020476,GARD:0022535,GARD:0020470,GARD:0020478,Rare neoplastic disease +GARD:0020476,GARD:0022535,GARD:0020470,GARD:0020477,Rare neoplastic disease +GARD:0020476,GARD:0022514,GARD:0020470,GARD:0020478,Rare gynecologic or obstetric disease +GARD:0020476,GARD:0022514,GARD:0020470,GARD:0020477,Rare gynecologic or obstetric disease +GARD:0020477,GARD:0022514,GARD:0020476,,Rare gynecologic or obstetric disease +GARD:0020477,GARD:0022535,GARD:0020476,,Rare neoplastic disease +GARD:0020478,GARD:0022535,GARD:0020476,,Rare neoplastic disease +GARD:0020478,GARD:0022514,GARD:0020476,,Rare gynecologic or obstetric disease +GARD:0020479,GARD:0022535,GARD:0020470,,Rare neoplastic disease +GARD:0020479,GARD:0022514,GARD:0020470,,Rare gynecologic or obstetric disease +GARD:0020480,GARD:0022514,GARD:0020470,,Rare gynecologic or obstetric disease +GARD:0020480,GARD:0022535,GARD:0020470,,Rare neoplastic disease +GARD:0020481,GARD:0022535,GARD:0020470,,Rare neoplastic disease +GARD:0020481,GARD:0022514,GARD:0020470,,Rare gynecologic or obstetric disease +GARD:0020482,GARD:0022521,GARD:0019768,,Rare endocrine disease +GARD:0020482,GARD:0022514,GARD:0020470,,Rare gynecologic or obstetric disease +GARD:0020482,GARD:0022535,GARD:0019768,,Rare neoplastic disease +GARD:0020482,GARD:0022535,GARD:0020470,,Rare neoplastic disease +GARD:0020483,GARD:0022535,GARD:0020470,,Rare neoplastic disease +GARD:0020483,GARD:0022514,GARD:0020470,,Rare gynecologic or obstetric disease +GARD:0020484,GARD:0022535,GARD:0020470,,Rare neoplastic disease +GARD:0020484,GARD:0022514,GARD:0020470,,Rare gynecologic or obstetric disease +GARD:0020485,GARD:0022514,GARD:0020470,,Rare gynecologic or obstetric disease +GARD:0020485,GARD:0022535,GARD:0020470,,Rare neoplastic disease +GARD:0020486,GARD:0022535,GARD:0020469,GARD:0020488,Rare neoplastic disease +GARD:0020486,GARD:0022535,GARD:0020469,GARD:0020493,Rare neoplastic disease +GARD:0020486,GARD:0022514,GARD:0020469,GARD:0020499,Rare gynecologic or obstetric disease +GARD:0020486,GARD:0022514,GARD:0020469,GARD:0020498,Rare gynecologic or obstetric disease +GARD:0020486,GARD:0022514,GARD:0020469,GARD:0020489,Rare gynecologic or obstetric disease +GARD:0020486,GARD:0022535,GARD:0020469,GARD:0020489,Rare neoplastic disease +GARD:0020486,GARD:0022514,GARD:0020469,GARD:0020497,Rare gynecologic or obstetric disease +GARD:0020486,GARD:0022535,GARD:0020469,GARD:0020490,Rare neoplastic disease +GARD:0020486,GARD:0022514,GARD:0020469,GARD:0020493,Rare gynecologic or obstetric disease +GARD:0020486,GARD:0022514,GARD:0020469,GARD:0020490,Rare gynecologic or obstetric disease +GARD:0020486,GARD:0022535,GARD:0020469,GARD:0020497,Rare neoplastic disease +GARD:0020486,GARD:0022535,GARD:0020469,GARD:0020499,Rare neoplastic disease +GARD:0020486,GARD:0022535,GARD:0020469,GARD:0020501,Rare neoplastic disease +GARD:0020486,GARD:0022514,GARD:0020469,GARD:0020488,Rare gynecologic or obstetric disease +GARD:0020486,GARD:0022535,GARD:0020469,GARD:0020500,Rare neoplastic disease +GARD:0020486,GARD:0022514,GARD:0020469,GARD:0020500,Rare gynecologic or obstetric disease +GARD:0020486,GARD:0022514,GARD:0020469,GARD:0020487,Rare gynecologic or obstetric disease +GARD:0020486,GARD:0022535,GARD:0020469,GARD:0020498,Rare neoplastic disease +GARD:0020486,GARD:0022535,GARD:0020469,GARD:0020487,Rare neoplastic disease +GARD:0020486,GARD:0022514,GARD:0020469,GARD:0020501,Rare gynecologic or obstetric disease +GARD:0020487,GARD:0022514,GARD:0020486,,Rare gynecologic or obstetric disease +GARD:0020487,GARD:0022535,GARD:0020486,,Rare neoplastic disease +GARD:0020488,GARD:0022514,GARD:0020486,,Rare gynecologic or obstetric disease +GARD:0020488,GARD:0022535,GARD:0020486,,Rare neoplastic disease +GARD:0020489,GARD:0022521,GARD:0019768,,Rare endocrine disease +GARD:0020489,GARD:0022535,GARD:0019768,,Rare neoplastic disease +GARD:0020489,GARD:0022535,GARD:0020486,,Rare neoplastic disease +GARD:0020489,GARD:0022514,GARD:0020486,,Rare gynecologic or obstetric disease +GARD:0020490,GARD:0022535,GARD:0020486,GARD:0020492,Rare neoplastic disease +GARD:0020490,GARD:0022514,GARD:0020486,GARD:0020491,Rare gynecologic or obstetric disease +GARD:0020490,GARD:0022514,GARD:0020486,GARD:0020492,Rare gynecologic or obstetric disease +GARD:0020490,GARD:0022535,GARD:0020486,GARD:0020491,Rare neoplastic disease +GARD:0020491,GARD:0022514,GARD:0020490,,Rare gynecologic or obstetric disease +GARD:0020491,GARD:0022535,GARD:0020490,,Rare neoplastic disease +GARD:0020492,GARD:0022514,GARD:0020490,,Rare gynecologic or obstetric disease +GARD:0020492,GARD:0022535,GARD:0020490,,Rare neoplastic disease +GARD:0020493,GARD:0022535,GARD:0020486,GARD:0020496,Rare neoplastic disease +GARD:0020493,GARD:0022514,GARD:0020486,GARD:0020494,Rare gynecologic or obstetric disease +GARD:0020493,GARD:0022514,GARD:0020486,GARD:0020495,Rare gynecologic or obstetric disease +GARD:0020493,GARD:0022535,GARD:0020486,GARD:0020494,Rare neoplastic disease +GARD:0020493,GARD:0022514,GARD:0020486,GARD:0020496,Rare gynecologic or obstetric disease +GARD:0020493,GARD:0022535,GARD:0020486,GARD:0020495,Rare neoplastic disease +GARD:0020494,GARD:0022535,GARD:0020493,,Rare neoplastic disease +GARD:0020494,GARD:0022514,GARD:0020493,,Rare gynecologic or obstetric disease +GARD:0020495,GARD:0022535,GARD:0020493,,Rare neoplastic disease +GARD:0020495,GARD:0022514,GARD:0020493,,Rare gynecologic or obstetric disease +GARD:0020496,GARD:0022514,GARD:0020493,,Rare gynecologic or obstetric disease +GARD:0020496,GARD:0022535,GARD:0020493,,Rare neoplastic disease +GARD:0020497,GARD:0022514,GARD:0020486,,Rare gynecologic or obstetric disease +GARD:0020497,GARD:0022535,GARD:0020486,,Rare neoplastic disease +GARD:0020498,GARD:0022535,GARD:0020486,,Rare neoplastic disease +GARD:0020498,GARD:0022514,GARD:0020486,,Rare gynecologic or obstetric disease +GARD:0020499,GARD:0022514,GARD:0020486,,Rare gynecologic or obstetric disease +GARD:0020499,GARD:0022535,GARD:0020486,,Rare neoplastic disease +GARD:0020500,GARD:0022535,GARD:0020486,,Rare neoplastic disease +GARD:0020500,GARD:0022514,GARD:0020486,,Rare gynecologic or obstetric disease +GARD:0020501,GARD:0022514,GARD:0020486,,Rare gynecologic or obstetric disease +GARD:0020501,GARD:0022535,GARD:0020486,,Rare neoplastic disease +GARD:0020502,GARD:0022519,GARD:0005476,,Rare surgical cardiac disease +GARD:0020502,GARD:0022513,GARD:0005476,,Rare developmental defect during embryogenesis +GARD:0020502,GARD:0022531,GARD:0005476,,Rare genetic disease +GARD:0020503,GARD:0022513,GARD:0005476,,Rare developmental defect during embryogenesis +GARD:0020503,GARD:0022519,GARD:0005476,,Rare surgical cardiac disease +GARD:0020503,GARD:0022531,GARD:0005476,,Rare genetic disease +GARD:0020504,GARD:0022531,GARD:0007207,,Rare genetic disease +GARD:0020504,GARD:0022524,GARD:0007207,,Rare neurologic disease +GARD:0020504,GARD:0022508,GARD:0007207,,Rare inborn errors of metabolism +GARD:0020504,GARD:0022517,GARD:0007207,,Rare respiratory disease +GARD:0020504,GARD:0022536,GARD:0007207,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020504,GARD:0022520,GARD:0007207,,Rare ophthalmic disorder +GARD:0020505,GARD:0022536,GARD:0007207,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020505,GARD:0022531,GARD:0007207,,Rare genetic disease +GARD:0020505,GARD:0022520,GARD:0007207,,Rare ophthalmic disorder +GARD:0020505,GARD:0022517,GARD:0007207,,Rare respiratory disease +GARD:0020505,GARD:0022508,GARD:0007207,,Rare inborn errors of metabolism +GARD:0020505,GARD:0022524,GARD:0007207,,Rare neurologic disease +GARD:0020506,GARD:0022524,GARD:0007207,,Rare neurologic disease +GARD:0020506,GARD:0022531,GARD:0007207,,Rare genetic disease +GARD:0020506,GARD:0022517,GARD:0007207,,Rare respiratory disease +GARD:0020506,GARD:0022536,GARD:0007207,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020506,GARD:0022508,GARD:0007207,,Rare inborn errors of metabolism +GARD:0020506,GARD:0022520,GARD:0007207,,Rare ophthalmic disorder +GARD:0020507,GARD:0022524,GARD:0007207,,Rare neurologic disease +GARD:0020507,GARD:0022517,GARD:0007207,,Rare respiratory disease +GARD:0020507,GARD:0022536,GARD:0007207,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020507,GARD:0022520,GARD:0007207,,Rare ophthalmic disorder +GARD:0020507,GARD:0022531,GARD:0007207,,Rare genetic disease +GARD:0020507,GARD:0022508,GARD:0007207,,Rare inborn errors of metabolism +GARD:0020508,GARD:0022517,GARD:0007207,,Rare respiratory disease +GARD:0020508,GARD:0022524,GARD:0007207,,Rare neurologic disease +GARD:0020508,GARD:0022531,GARD:0007207,,Rare genetic disease +GARD:0020508,GARD:0022508,GARD:0007207,,Rare inborn errors of metabolism +GARD:0020508,GARD:0022520,GARD:0007207,,Rare ophthalmic disorder +GARD:0020508,GARD:0022536,GARD:0007207,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020509,GARD:0022533,GARD:0021258,,Rare disorder due to toxic effects +GARD:0020510,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0020511,GARD:0022516,GARD:0021775,GARD:0021780,Rare gastroenterologic disease +GARD:0020511,GARD:0022535,GARD:0021775,GARD:0021776,Rare neoplastic disease +GARD:0020511,GARD:0022535,GARD:0021775,GARD:0021782,Rare neoplastic disease +GARD:0020511,GARD:0022535,GARD:0021775,GARD:0021780,Rare neoplastic disease +GARD:0020511,GARD:0022516,GARD:0021775,GARD:0021781,Rare gastroenterologic disease +GARD:0020511,GARD:0022516,GARD:0021775,GARD:0021778,Rare gastroenterologic disease +GARD:0020511,GARD:0022535,GARD:0021775,GARD:0021779,Rare neoplastic disease +GARD:0020511,GARD:0022516,GARD:0021775,GARD:0021782,Rare gastroenterologic disease +GARD:0020511,GARD:0022535,GARD:0021775,GARD:0021777,Rare neoplastic disease +GARD:0020511,GARD:0022535,GARD:0021775,GARD:0021778,Rare neoplastic disease +GARD:0020511,GARD:0022516,GARD:0021775,GARD:0021779,Rare gastroenterologic disease +GARD:0020511,GARD:0022535,GARD:0021775,GARD:0004206,Rare neoplastic disease +GARD:0020511,GARD:0022516,GARD:0021775,GARD:0021777,Rare gastroenterologic disease +GARD:0020511,GARD:0022516,GARD:0021775,GARD:0004206,Rare gastroenterologic disease +GARD:0020511,GARD:0022516,GARD:0021775,GARD:0021776,Rare gastroenterologic disease +GARD:0020511,GARD:0022535,GARD:0021775,GARD:0021781,Rare neoplastic disease +GARD:0020512,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0020513,GARD:0022524,GARD:0011979,,Rare neurologic disease +GARD:0020514,GARD:0022531,GARD:0012688,,Rare genetic disease +GARD:0020514,GARD:0022524,GARD:0012688,,Rare neurologic disease +GARD:0020515,GARD:0022531,GARD:0021662,GARD:0017125,Rare genetic disease +GARD:0020515,GARD:0022522,GARD:0020677,GARD:0016544,Rare hematologic disease +GARD:0020515,GARD:0022525,GARD:0021662,GARD:0016544,Rare systemic or rheumatologic disease +GARD:0020515,GARD:0022511,GARD:0021662,GARD:0017125,Rare bone disease +GARD:0020515,GARD:0022522,GARD:0020677,GARD:0017125,Rare hematologic disease +GARD:0020515,GARD:0022531,GARD:0020677,GARD:0006148,Rare genetic disease +GARD:0020515,GARD:0022531,GARD:0021662,GARD:0006148,Rare genetic disease +GARD:0020515,GARD:0022531,GARD:0021662,GARD:0016543,Rare genetic disease +GARD:0020515,GARD:0022531,GARD:0020677,GARD:0017125,Rare genetic disease +GARD:0020515,GARD:0022531,GARD:0020677,GARD:0016543,Rare genetic disease +GARD:0020515,GARD:0022511,GARD:0021662,GARD:0016543,Rare bone disease +GARD:0020515,GARD:0022531,GARD:0021662,GARD:0016544,Rare genetic disease +GARD:0020515,GARD:0022511,GARD:0021662,GARD:0006148,Rare bone disease +GARD:0020515,GARD:0022522,GARD:0020677,GARD:0016543,Rare hematologic disease +GARD:0020515,GARD:0022525,GARD:0021662,GARD:0006148,Rare systemic or rheumatologic disease +GARD:0020515,GARD:0022525,GARD:0021662,GARD:0016543,Rare systemic or rheumatologic disease +GARD:0020515,GARD:0022511,GARD:0021662,GARD:0016544,Rare bone disease +GARD:0020515,GARD:0022531,GARD:0020677,GARD:0016544,Rare genetic disease +GARD:0020515,GARD:0022525,GARD:0021662,GARD:0017125,Rare systemic or rheumatologic disease +GARD:0020515,GARD:0022522,GARD:0020677,GARD:0006148,Rare hematologic disease +GARD:0020516,GARD:0022517,GARD:0020925,,Rare respiratory disease +GARD:0020516,GARD:0022536,GARD:0020925,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020517,GARD:0022536,GARD:0020925,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020517,GARD:0022517,GARD:0020925,,Rare respiratory disease +GARD:0020518,GARD:0022536,GARD:0022065,GARD:0020524,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020518,GARD:0022515,GARD:0020096,GARD:0019686,Rare cardiac disease +GARD:0020518,GARD:0022536,GARD:0022065,GARD:0019686,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020518,GARD:0022515,GARD:0020096,GARD:0020524,Rare cardiac disease +GARD:0020519,GARD:0022536,GARD:0019686,GARD:0009730,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020519,GARD:0022536,GARD:0019686,GARD:0010728,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020519,GARD:0022531,GARD:0019686,GARD:0009442,Rare genetic disease +GARD:0020519,GARD:0022531,GARD:0019686,GARD:0005714,Rare genetic disease +GARD:0020519,GARD:0022515,GARD:0019686,GARD:0009442,Rare cardiac disease +GARD:0020519,GARD:0022531,GARD:0019686,GARD:0010760,Rare genetic disease +GARD:0020519,GARD:0022536,GARD:0019686,GARD:0010760,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020519,GARD:0022531,GARD:0019686,GARD:0010728,Rare genetic disease +GARD:0020519,GARD:0022515,GARD:0019686,GARD:0005714,Rare cardiac disease +GARD:0020519,GARD:0022515,GARD:0019686,GARD:0009730,Rare cardiac disease +GARD:0020519,GARD:0022515,GARD:0019686,GARD:0010728,Rare cardiac disease +GARD:0020519,GARD:0022531,GARD:0019686,GARD:0009730,Rare genetic disease +GARD:0020519,GARD:0022536,GARD:0019686,GARD:0005714,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020519,GARD:0022515,GARD:0019686,GARD:0010760,Rare cardiac disease +GARD:0020519,GARD:0022536,GARD:0019686,GARD:0009442,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020520,GARD:0022536,GARD:0019686,GARD:0006400,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020520,GARD:0022515,GARD:0019686,GARD:0012560,Rare cardiac disease +GARD:0020520,GARD:0022531,GARD:0019686,GARD:0012560,Rare genetic disease +GARD:0020520,GARD:0022515,GARD:0019686,GARD:0006473,Rare cardiac disease +GARD:0020520,GARD:0022531,GARD:0019686,GARD:0005714,Rare genetic disease +GARD:0020520,GARD:0022536,GARD:0019686,GARD:0005714,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020520,GARD:0022536,GARD:0019686,GARD:0006473,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020520,GARD:0022536,GARD:0019686,GARD:0000869,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020520,GARD:0022515,GARD:0019686,GARD:0006675,Rare cardiac disease +GARD:0020520,GARD:0022531,GARD:0019686,GARD:0006473,Rare genetic disease +GARD:0020520,GARD:0022536,GARD:0019686,GARD:0012559,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020520,GARD:0022531,GARD:0019686,GARD:0012559,Rare genetic disease +GARD:0020520,GARD:0022515,GARD:0019686,GARD:0000869,Rare cardiac disease +GARD:0020520,GARD:0022515,GARD:0019686,GARD:0005714,Rare cardiac disease +GARD:0020520,GARD:0022536,GARD:0019686,GARD:0012560,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020520,GARD:0022515,GARD:0019686,GARD:0012559,Rare cardiac disease +GARD:0020520,GARD:0022536,GARD:0019686,GARD:0006675,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020520,GARD:0022515,GARD:0019686,GARD:0006400,Rare cardiac disease +GARD:0020520,GARD:0022531,GARD:0019686,GARD:0006400,Rare genetic disease +GARD:0020520,GARD:0022531,GARD:0019686,GARD:0006675,Rare genetic disease +GARD:0020520,GARD:0022531,GARD:0019686,GARD:0000869,Rare genetic disease +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0012892,Rare cardiac disease +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0017796,Rare genetic disease +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0021442,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0008476,Rare cardiac disease +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0001142,Rare cardiac disease +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0017915,Rare cardiac disease +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0008476,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0018719,Rare cardiac disease +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0007009,Rare genetic disease +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0001142,Rare genetic disease +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0017796,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0017470,Rare genetic disease +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0007009,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0007144,Rare cardiac disease +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0021442,Rare cardiac disease +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0017589,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0007144,Rare genetic disease +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0017470,Rare cardiac disease +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0017796,Rare cardiac disease +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0017428,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0017759,Rare genetic disease +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0017589,Rare genetic disease +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0017589,Rare cardiac disease +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0018006,Rare genetic disease +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0017915,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0018719,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0017428,Rare cardiac disease +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0007144,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0006870,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0018719,Rare genetic disease +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0021442,Rare genetic disease +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0012892,Rare genetic disease +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0018006,Rare cardiac disease +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0007009,Rare cardiac disease +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0017759,Rare cardiac disease +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0001142,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0017470,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0008476,Rare genetic disease +GARD:0020521,GARD:0022515,GARD:0019686,GARD:0006870,Rare cardiac disease +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0017428,Rare genetic disease +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0017759,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0006870,Rare genetic disease +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0012892,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020521,GARD:0022531,GARD:0019686,GARD:0017915,Rare genetic disease +GARD:0020521,GARD:0022536,GARD:0019686,GARD:0018006,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020522,GARD:0022536,GARD:0019686,GARD:0003684,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020522,GARD:0022515,GARD:0019686,GARD:0006867,Rare cardiac disease +GARD:0020522,GARD:0022515,GARD:0019686,GARD:0006523,Rare cardiac disease +GARD:0020522,GARD:0022515,GARD:0019686,GARD:0003684,Rare cardiac disease +GARD:0020522,GARD:0022536,GARD:0019686,GARD:0006867,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020522,GARD:0022531,GARD:0019686,GARD:0012986,Rare genetic disease +GARD:0020522,GARD:0022536,GARD:0019686,GARD:0006523,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020522,GARD:0022515,GARD:0019686,GARD:0001123,Rare cardiac disease +GARD:0020522,GARD:0022531,GARD:0019686,GARD:0005508,Rare genetic disease +GARD:0020522,GARD:0022536,GARD:0019686,GARD:0005508,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020522,GARD:0022536,GARD:0019686,GARD:0001123,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020522,GARD:0022531,GARD:0019686,GARD:0001123,Rare genetic disease +GARD:0020522,GARD:0022531,GARD:0019686,GARD:0006867,Rare genetic disease +GARD:0020522,GARD:0022515,GARD:0019686,GARD:0012986,Rare cardiac disease +GARD:0020522,GARD:0022531,GARD:0019686,GARD:0003684,Rare genetic disease +GARD:0020522,GARD:0022531,GARD:0019686,GARD:0006523,Rare genetic disease +GARD:0020522,GARD:0022515,GARD:0019686,GARD:0005508,Rare cardiac disease +GARD:0020522,GARD:0022536,GARD:0019686,GARD:0012986,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020523,GARD:0022515,GARD:0019686,GARD:0016795,Rare cardiac disease +GARD:0020523,GARD:0022515,GARD:0019686,GARD:0008310,Rare cardiac disease +GARD:0020523,GARD:0022515,GARD:0019686,GARD:0017145,Rare cardiac disease +GARD:0020523,GARD:0022536,GARD:0019686,GARD:0016870,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020523,GARD:0022536,GARD:0019686,GARD:0006468,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020523,GARD:0022531,GARD:0019686,GARD:0001550,Rare genetic disease +GARD:0020523,GARD:0022515,GARD:0019686,GARD:0005068,Rare cardiac disease +GARD:0020523,GARD:0022531,GARD:0019686,GARD:0017577,Rare genetic disease +GARD:0020523,GARD:0022536,GARD:0019686,GARD:0016795,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020523,GARD:0022531,GARD:0019686,GARD:0009146,Rare genetic disease +GARD:0020523,GARD:0022531,GARD:0019686,GARD:0005068,Rare genetic disease +GARD:0020523,GARD:0022515,GARD:0019686,GARD:0001550,Rare cardiac disease +GARD:0020523,GARD:0022531,GARD:0019686,GARD:0017145,Rare genetic disease +GARD:0020523,GARD:0022531,GARD:0019686,GARD:0016870,Rare genetic disease +GARD:0020523,GARD:0022536,GARD:0019686,GARD:0001550,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020523,GARD:0022531,GARD:0019686,GARD:0001100,Rare genetic disease +GARD:0020523,GARD:0022531,GARD:0019686,GARD:0008310,Rare genetic disease +GARD:0020523,GARD:0022515,GARD:0019686,GARD:0010719,Rare cardiac disease +GARD:0020523,GARD:0022531,GARD:0019686,GARD:0016795,Rare genetic disease +GARD:0020523,GARD:0022536,GARD:0019686,GARD:0017145,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020523,GARD:0022515,GARD:0019686,GARD:0016870,Rare cardiac disease +GARD:0020523,GARD:0022531,GARD:0019686,GARD:0006468,Rare genetic disease +GARD:0020523,GARD:0022515,GARD:0019686,GARD:0017577,Rare cardiac disease +GARD:0020523,GARD:0022536,GARD:0019686,GARD:0001100,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020523,GARD:0022515,GARD:0019686,GARD:0006468,Rare cardiac disease +GARD:0020523,GARD:0022531,GARD:0019686,GARD:0003343,Rare genetic disease +GARD:0020523,GARD:0022515,GARD:0019686,GARD:0017651,Rare cardiac disease +GARD:0020523,GARD:0022515,GARD:0019686,GARD:0010955,Rare cardiac disease +GARD:0020523,GARD:0022536,GARD:0019686,GARD:0010719,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020523,GARD:0022536,GARD:0019686,GARD:0010955,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020523,GARD:0022531,GARD:0019686,GARD:0010955,Rare genetic disease +GARD:0020523,GARD:0022536,GARD:0019686,GARD:0017577,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020523,GARD:0022515,GARD:0019686,GARD:0003343,Rare cardiac disease +GARD:0020523,GARD:0022531,GARD:0019686,GARD:0017651,Rare genetic disease +GARD:0020523,GARD:0022531,GARD:0019686,GARD:0010719,Rare genetic disease +GARD:0020523,GARD:0022515,GARD:0019686,GARD:0009146,Rare cardiac disease +GARD:0020523,GARD:0022515,GARD:0019686,GARD:0001100,Rare cardiac disease +GARD:0020523,GARD:0022536,GARD:0019686,GARD:0003343,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020523,GARD:0022536,GARD:0019686,GARD:0005068,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020523,GARD:0022536,GARD:0019686,GARD:0009146,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020523,GARD:0022536,GARD:0019686,GARD:0017651,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020523,GARD:0022536,GARD:0019686,GARD:0008310,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020524,GARD:0022515,GARD:0020518,GARD:0016580,Rare cardiac disease +GARD:0020524,GARD:0022536,GARD:0020518,GARD:0016580,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020524,GARD:0022536,GARD:0020518,GARD:0018852,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020524,GARD:0022515,GARD:0020518,GARD:0018852,Rare cardiac disease +GARD:0020524,GARD:0022536,GARD:0020518,GARD:0005797,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020524,GARD:0022515,GARD:0020518,GARD:0005797,Rare cardiac disease +GARD:0020525,GARD:0022531,GARD:0019399,GARD:0020529,Rare genetic disease +GARD:0020525,GARD:0022515,GARD:0000221,GARD:0020527,Rare cardiac disease +GARD:0020525,GARD:0022531,GARD:0019399,GARD:0020527,Rare genetic disease +GARD:0020525,GARD:0022515,GARD:0000221,GARD:0002905,Rare cardiac disease +GARD:0020525,GARD:0022515,GARD:0000221,GARD:0020526,Rare cardiac disease +GARD:0020525,GARD:0022531,GARD:0019399,GARD:0018615,Rare genetic disease +GARD:0020525,GARD:0022531,GARD:0019399,GARD:0002620,Rare genetic disease +GARD:0020525,GARD:0022515,GARD:0000221,GARD:0009730,Rare cardiac disease +GARD:0020525,GARD:0022515,GARD:0000221,GARD:0018615,Rare cardiac disease +GARD:0020525,GARD:0022515,GARD:0000221,GARD:0020529,Rare cardiac disease +GARD:0020525,GARD:0022531,GARD:0019399,GARD:0021606,Rare genetic disease +GARD:0020525,GARD:0022515,GARD:0000221,GARD:0020528,Rare cardiac disease +GARD:0020525,GARD:0022515,GARD:0000221,GARD:0002620,Rare cardiac disease +GARD:0020525,GARD:0022531,GARD:0019399,GARD:0002520,Rare genetic disease +GARD:0020525,GARD:0022531,GARD:0019399,GARD:0002905,Rare genetic disease +GARD:0020525,GARD:0022531,GARD:0019399,GARD:0020526,Rare genetic disease +GARD:0020525,GARD:0022515,GARD:0000221,GARD:0002520,Rare cardiac disease +GARD:0020525,GARD:0022531,GARD:0019399,GARD:0020528,Rare genetic disease +GARD:0020525,GARD:0022515,GARD:0000221,GARD:0021606,Rare cardiac disease +GARD:0020525,GARD:0022531,GARD:0019399,GARD:0009730,Rare genetic disease +GARD:0020526,GARD:0022536,GARD:0022065,GARD:0003851,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020526,GARD:0022531,GARD:0020525,GARD:0002429,Rare genetic disease +GARD:0020526,GARD:0022536,GARD:0022065,GARD:0018686,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020526,GARD:0022515,GARD:0020525,GARD:0017324,Rare cardiac disease +GARD:0020526,GARD:0022536,GARD:0022065,GARD:0006329,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020526,GARD:0022515,GARD:0020525,GARD:0006329,Rare cardiac disease +GARD:0020526,GARD:0022531,GARD:0020525,GARD:0008573,Rare genetic disease +GARD:0020526,GARD:0022515,GARD:0020525,GARD:0003851,Rare cardiac disease +GARD:0020526,GARD:0022515,GARD:0020525,GARD:0008573,Rare cardiac disease +GARD:0020526,GARD:0022531,GARD:0020525,GARD:0017834,Rare genetic disease +GARD:0020526,GARD:0022536,GARD:0022065,GARD:0000438,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020526,GARD:0022515,GARD:0020525,GARD:0018686,Rare cardiac disease +GARD:0020526,GARD:0022515,GARD:0020525,GARD:0012538,Rare cardiac disease +GARD:0020526,GARD:0022531,GARD:0020525,GARD:0017324,Rare genetic disease +GARD:0020526,GARD:0022515,GARD:0020525,GARD:0000438,Rare cardiac disease +GARD:0020526,GARD:0022531,GARD:0020525,GARD:0018686,Rare genetic disease +GARD:0020526,GARD:0022536,GARD:0022065,GARD:0012538,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020526,GARD:0022531,GARD:0020525,GARD:0003851,Rare genetic disease +GARD:0020526,GARD:0022536,GARD:0022065,GARD:0017834,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020526,GARD:0022531,GARD:0020525,GARD:0000438,Rare genetic disease +GARD:0020526,GARD:0022536,GARD:0022065,GARD:0017643,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020526,GARD:0022531,GARD:0020525,GARD:0016870,Rare genetic disease +GARD:0020526,GARD:0022531,GARD:0020525,GARD:0006329,Rare genetic disease +GARD:0020526,GARD:0022536,GARD:0022065,GARD:0008573,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020526,GARD:0022531,GARD:0020525,GARD:0017643,Rare genetic disease +GARD:0020526,GARD:0022515,GARD:0020525,GARD:0002429,Rare cardiac disease +GARD:0020526,GARD:0022536,GARD:0022065,GARD:0002429,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020526,GARD:0022515,GARD:0020525,GARD:0016870,Rare cardiac disease +GARD:0020526,GARD:0022515,GARD:0020525,GARD:0017834,Rare cardiac disease +GARD:0020526,GARD:0022536,GARD:0022065,GARD:0017324,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020526,GARD:0022531,GARD:0020525,GARD:0012538,Rare genetic disease +GARD:0020526,GARD:0022536,GARD:0022065,GARD:0016870,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020526,GARD:0022515,GARD:0020525,GARD:0017643,Rare cardiac disease +GARD:0020527,GARD:0022531,GARD:0020525,GARD:0007144,Rare genetic disease +GARD:0020527,GARD:0022531,GARD:0020525,GARD:0007009,Rare genetic disease +GARD:0020527,GARD:0022531,GARD:0020525,GARD:0006817,Rare genetic disease +GARD:0020527,GARD:0022515,GARD:0020525,GARD:0006870,Rare cardiac disease +GARD:0020527,GARD:0022531,GARD:0020525,GARD:0009511,Rare genetic disease +GARD:0020527,GARD:0022536,GARD:0022065,GARD:0006870,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020527,GARD:0022515,GARD:0020525,GARD:0006817,Rare cardiac disease +GARD:0020527,GARD:0022515,GARD:0020525,GARD:0007144,Rare cardiac disease +GARD:0020527,GARD:0022536,GARD:0022065,GARD:0009511,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020527,GARD:0022515,GARD:0020525,GARD:0009511,Rare cardiac disease +GARD:0020527,GARD:0022531,GARD:0020525,GARD:0006870,Rare genetic disease +GARD:0020527,GARD:0022531,GARD:0020525,GARD:0008476,Rare genetic disease +GARD:0020527,GARD:0022531,GARD:0020525,GARD:0005890,Rare genetic disease +GARD:0020527,GARD:0022515,GARD:0020525,GARD:0007009,Rare cardiac disease +GARD:0020527,GARD:0022536,GARD:0022065,GARD:0005890,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020527,GARD:0022536,GARD:0022065,GARD:0007009,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020527,GARD:0022536,GARD:0022065,GARD:0007144,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020527,GARD:0022536,GARD:0022065,GARD:0008476,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020527,GARD:0022536,GARD:0022065,GARD:0006817,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020527,GARD:0022515,GARD:0020525,GARD:0008476,Rare cardiac disease +GARD:0020527,GARD:0022515,GARD:0020525,GARD:0005890,Rare cardiac disease +GARD:0020528,GARD:0022536,GARD:0022065,GARD:0005104,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020528,GARD:0022536,GARD:0022065,GARD:0012986,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020528,GARD:0022531,GARD:0020525,GARD:0005104,Rare genetic disease +GARD:0020528,GARD:0022515,GARD:0020525,GARD:0005104,Rare cardiac disease +GARD:0020528,GARD:0022515,GARD:0020525,GARD:0012986,Rare cardiac disease +GARD:0020528,GARD:0022531,GARD:0020525,GARD:0012986,Rare genetic disease +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0021950,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0003929,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0010223,Rare cardiac disease +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0010731,Rare cardiac disease +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0003609,Rare cardiac disease +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0005787,Rare cardiac disease +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0009846,Rare cardiac disease +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0009846,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0001102,Rare genetic disease +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0003609,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0001102,Rare cardiac disease +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0010223,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0017128,Rare cardiac disease +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0003929,Rare genetic disease +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0017128,Rare genetic disease +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0018920,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0006082,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0003373,Rare genetic disease +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0003373,Rare cardiac disease +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0010223,Rare genetic disease +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0012964,Rare cardiac disease +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0009846,Rare genetic disease +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0006082,Rare genetic disease +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0005595,Rare cardiac disease +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0000448,Rare cardiac disease +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0018920,Rare cardiac disease +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0006082,Rare cardiac disease +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0003929,Rare cardiac disease +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0001102,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0000448,Rare genetic disease +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0021950,Rare genetic disease +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0012964,Rare genetic disease +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0012964,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020529,GARD:0022515,GARD:0020525,GARD:0021950,Rare cardiac disease +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0018920,Rare genetic disease +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0005595,Rare genetic disease +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0003373,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0005787,Rare genetic disease +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0010731,Rare genetic disease +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0010731,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0017128,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0005595,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020529,GARD:0022531,GARD:0020525,GARD:0003609,Rare genetic disease +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0000448,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020529,GARD:0022536,GARD:0022065,GARD:0005787,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020530,GARD:0022515,GARD:0000221,GARD:0021452,Rare cardiac disease +GARD:0020530,GARD:0022515,GARD:0000221,GARD:0000220,Rare cardiac disease +GARD:0020530,GARD:0022515,GARD:0000221,GARD:0018852,Rare cardiac disease +GARD:0020530,GARD:0022515,GARD:0000221,GARD:0006336,Rare cardiac disease +GARD:0020531,GARD:0022515,GARD:0020096,GARD:0020532,Rare cardiac disease +GARD:0020531,GARD:0022515,GARD:0020096,GARD:0020535,Rare cardiac disease +GARD:0020532,GARD:0022531,GARD:0019399,GARD:0016692,Rare genetic disease +GARD:0020532,GARD:0022515,GARD:0020531,GARD:0016564,Rare cardiac disease +GARD:0020532,GARD:0022515,GARD:0020531,GARD:0009643,Rare cardiac disease +GARD:0020532,GARD:0022515,GARD:0020531,GARD:0002620,Rare cardiac disease +GARD:0020532,GARD:0022531,GARD:0019399,GARD:0016870,Rare genetic disease +GARD:0020532,GARD:0022531,GARD:0019399,GARD:0021017,Rare genetic disease +GARD:0020532,GARD:0022531,GARD:0019399,GARD:0016564,Rare genetic disease +GARD:0020532,GARD:0022515,GARD:0020531,GARD:0020533,Rare cardiac disease +GARD:0020532,GARD:0022531,GARD:0019399,GARD:0020533,Rare genetic disease +GARD:0020532,GARD:0022515,GARD:0020531,GARD:0016692,Rare cardiac disease +GARD:0020532,GARD:0022515,GARD:0020531,GARD:0016870,Rare cardiac disease +GARD:0020532,GARD:0022531,GARD:0019399,GARD:0009643,Rare genetic disease +GARD:0020532,GARD:0022531,GARD:0019399,GARD:0002620,Rare genetic disease +GARD:0020532,GARD:0022515,GARD:0020531,GARD:0021017,Rare cardiac disease +GARD:0020533,GARD:0022536,GARD:0022065,GARD:0006400,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020533,GARD:0022531,GARD:0020532,GARD:0006400,Rare genetic disease +GARD:0020533,GARD:0022536,GARD:0022065,GARD:0002441,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020533,GARD:0022531,GARD:0020532,GARD:0002441,Rare genetic disease +GARD:0020533,GARD:0022515,GARD:0020532,GARD:0006400,Rare cardiac disease +GARD:0020533,GARD:0022531,GARD:0020532,GARD:0012559,Rare genetic disease +GARD:0020533,GARD:0022515,GARD:0020532,GARD:0002441,Rare cardiac disease +GARD:0020533,GARD:0022536,GARD:0022065,GARD:0005714,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020533,GARD:0022515,GARD:0020532,GARD:0012559,Rare cardiac disease +GARD:0020533,GARD:0022536,GARD:0022065,GARD:0012559,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020533,GARD:0022531,GARD:0020532,GARD:0005714,Rare genetic disease +GARD:0020533,GARD:0022515,GARD:0020532,GARD:0005714,Rare cardiac disease +GARD:0020534,GARD:0022515,GARD:0020096,GARD:0017865,Rare cardiac disease +GARD:0020534,GARD:0022515,GARD:0020096,GARD:0009400,Rare cardiac disease +GARD:0020534,GARD:0022515,GARD:0020096,GARD:0010985,Rare cardiac disease +GARD:0020534,GARD:0022515,GARD:0020096,GARD:0005393,Rare cardiac disease +GARD:0020535,GARD:0022515,GARD:0020531,GARD:0006337,Rare cardiac disease +GARD:0020535,GARD:0022515,GARD:0020531,GARD:0021501,Rare cardiac disease +GARD:0020535,GARD:0022515,GARD:0020531,GARD:0018928,Rare cardiac disease +GARD:0020535,GARD:0022515,GARD:0020531,GARD:0010560,Rare cardiac disease +GARD:0020535,GARD:0022515,GARD:0020531,GARD:0006336,Rare cardiac disease +GARD:0020535,GARD:0022515,GARD:0020531,GARD:0007607,Rare cardiac disease +GARD:0020535,GARD:0022515,GARD:0020531,GARD:0002804,Rare cardiac disease +GARD:0020535,GARD:0022515,GARD:0020531,GARD:0009748,Rare cardiac disease +GARD:0020535,GARD:0022515,GARD:0020531,GARD:0005797,Rare cardiac disease +GARD:0020535,GARD:0022515,GARD:0020531,GARD:0018929,Rare cardiac disease +GARD:0020535,GARD:0022515,GARD:0020531,GARD:0002620,Rare cardiac disease +GARD:0020536,GARD:0022515,GARD:0022515,GARD:0019785,Rare cardiac disease +GARD:0020536,GARD:0022515,GARD:0022515,GARD:0020537,Rare cardiac disease +GARD:0020537,GARD:0022515,GARD:0020536,GARD:0001235,Rare cardiac disease +GARD:0020537,GARD:0022515,GARD:0020536,GARD:0018831,Rare cardiac disease +GARD:0020537,GARD:0022515,GARD:0020536,GARD:0018832,Rare cardiac disease +GARD:0020538,GARD:0022531,GARD:0021967,,Rare genetic disease +GARD:0020538,GARD:0022522,GARD:0021967,,Rare hematologic disease +GARD:0020539,GARD:0022531,GARD:0021968,GARD:0016965,Rare genetic disease +GARD:0020539,GARD:0022531,GARD:0021968,GARD:0017574,Rare genetic disease +GARD:0020539,GARD:0022531,GARD:0021968,GARD:0016676,Rare genetic disease +GARD:0020539,GARD:0022522,GARD:0021968,GARD:0019469,Rare hematologic disease +GARD:0020539,GARD:0022522,GARD:0021968,GARD:0017574,Rare hematologic disease +GARD:0020539,GARD:0022531,GARD:0021968,GARD:0019469,Rare genetic disease +GARD:0020539,GARD:0022531,GARD:0021968,GARD:0017738,Rare genetic disease +GARD:0020539,GARD:0022522,GARD:0021968,GARD:0016965,Rare hematologic disease +GARD:0020539,GARD:0022531,GARD:0021968,GARD:0002470,Rare genetic disease +GARD:0020539,GARD:0022522,GARD:0021968,GARD:0017738,Rare hematologic disease +GARD:0020539,GARD:0022522,GARD:0021968,GARD:0002470,Rare hematologic disease +GARD:0020539,GARD:0022522,GARD:0021968,GARD:0016676,Rare hematologic disease +GARD:0020540,GARD:0022536,GARD:0022060,GARD:0010094,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020540,GARD:0022508,GARD:0021355,GARD:0010417,Rare inborn errors of metabolism +GARD:0020540,GARD:0022531,GARD:0021355,GARD:0010417,Rare genetic disease +GARD:0020540,GARD:0022531,GARD:0019790,GARD:0010093,Rare genetic disease +GARD:0020540,GARD:0022536,GARD:0022060,GARD:0010093,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020540,GARD:0022531,GARD:0021355,GARD:0010092,Rare genetic disease +GARD:0020540,GARD:0022536,GARD:0022060,GARD:0010092,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020540,GARD:0022506,GARD:0019790,GARD:0010417,Rare hepatic disease +GARD:0020540,GARD:0022506,GARD:0019790,GARD:0010093,Rare hepatic disease +GARD:0020540,GARD:0022508,GARD:0021355,GARD:0010094,Rare inborn errors of metabolism +GARD:0020540,GARD:0022531,GARD:0019790,GARD:0010094,Rare genetic disease +GARD:0020540,GARD:0022531,GARD:0019790,GARD:0010417,Rare genetic disease +GARD:0020540,GARD:0022506,GARD:0019790,GARD:0010092,Rare hepatic disease +GARD:0020540,GARD:0022508,GARD:0021355,GARD:0010092,Rare inborn errors of metabolism +GARD:0020540,GARD:0022531,GARD:0019790,GARD:0010092,Rare genetic disease +GARD:0020540,GARD:0022531,GARD:0021355,GARD:0010093,Rare genetic disease +GARD:0020540,GARD:0022536,GARD:0022060,GARD:0010417,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020540,GARD:0022531,GARD:0021355,GARD:0010094,Rare genetic disease +GARD:0020540,GARD:0022506,GARD:0019790,GARD:0010094,Rare hepatic disease +GARD:0020540,GARD:0022508,GARD:0021355,GARD:0010093,Rare inborn errors of metabolism +GARD:0020541,GARD:0022524,GARD:0020542,,Rare neurologic disease +GARD:0020542,GARD:0022524,GARD:0020243,GARD:0020541,Rare neurologic disease +GARD:0020542,GARD:0022524,GARD:0020243,GARD:0007805,Rare neurologic disease +GARD:0020542,GARD:0022524,GARD:0020243,GARD:0006519,Rare neurologic disease +GARD:0020543,GARD:0022524,GARD:0020243,GARD:0009766,Rare neurologic disease +GARD:0020543,GARD:0022524,GARD:0020243,GARD:0017137,Rare neurologic disease +GARD:0020543,GARD:0022524,GARD:0020243,GARD:0006793,Rare neurologic disease +GARD:0020544,GARD:0022510,GARD:0020576,,Rare skin disease +GARD:0020545,GARD:0022510,GARD:0018984,GARD:0007885,Rare skin disease +GARD:0020545,GARD:0022510,GARD:0018984,GARD:0004392,Rare skin disease +GARD:0020545,GARD:0022510,GARD:0018984,GARD:0004085,Rare skin disease +GARD:0020545,GARD:0022531,GARD:0020260,GARD:0004085,Rare genetic disease +GARD:0020545,GARD:0022510,GARD:0018984,GARD:0013218,Rare skin disease +GARD:0020545,GARD:0022510,GARD:0018984,GARD:0017136,Rare skin disease +GARD:0020545,GARD:0022531,GARD:0020260,GARD:0013218,Rare genetic disease +GARD:0020545,GARD:0022531,GARD:0020260,GARD:0017136,Rare genetic disease +GARD:0020545,GARD:0022510,GARD:0018984,GARD:0018781,Rare skin disease +GARD:0020545,GARD:0022510,GARD:0018984,GARD:0010905,Rare skin disease +GARD:0020545,GARD:0022531,GARD:0020260,GARD:0007885,Rare genetic disease +GARD:0020545,GARD:0022531,GARD:0020260,GARD:0004392,Rare genetic disease +GARD:0020545,GARD:0022531,GARD:0020260,GARD:0010905,Rare genetic disease +GARD:0020545,GARD:0022531,GARD:0020260,GARD:0018781,Rare genetic disease +GARD:0020546,GARD:0022508,GARD:0018887,GARD:0020754,Rare inborn errors of metabolism +GARD:0020546,GARD:0022531,GARD:0018887,GARD:0018771,Rare genetic disease +GARD:0020546,GARD:0022531,GARD:0018887,GARD:0020766,Rare genetic disease +GARD:0020546,GARD:0022531,GARD:0018887,GARD:0020754,Rare genetic disease +GARD:0020546,GARD:0022508,GARD:0018887,GARD:0020766,Rare inborn errors of metabolism +GARD:0020546,GARD:0022508,GARD:0018887,GARD:0018771,Rare inborn errors of metabolism +GARD:0020547,GARD:0022535,GARD:0018892,GARD:0013046,Rare neoplastic disease +GARD:0020547,GARD:0022511,GARD:0018892,GARD:0006963,Rare bone disease +GARD:0020547,GARD:0022535,GARD:0018892,GARD:0006055,Rare neoplastic disease +GARD:0020547,GARD:0022535,GARD:0018892,GARD:0007284,Rare neoplastic disease +GARD:0020547,GARD:0022535,GARD:0018892,GARD:0006390,Rare neoplastic disease +GARD:0020547,GARD:0022511,GARD:0018892,GARD:0002327,Rare bone disease +GARD:0020547,GARD:0022511,GARD:0018892,GARD:0006055,Rare bone disease +GARD:0020547,GARD:0022511,GARD:0018892,GARD:0017601,Rare bone disease +GARD:0020547,GARD:0022535,GARD:0018892,GARD:0017601,Rare neoplastic disease +GARD:0020547,GARD:0022535,GARD:0018892,GARD:0006963,Rare neoplastic disease +GARD:0020547,GARD:0022511,GARD:0018892,GARD:0007284,Rare bone disease +GARD:0020547,GARD:0022511,GARD:0018892,GARD:0006390,Rare bone disease +GARD:0020547,GARD:0022535,GARD:0018892,GARD:0002327,Rare neoplastic disease +GARD:0020547,GARD:0022511,GARD:0018892,GARD:0013046,Rare bone disease +GARD:0020548,GARD:0022535,GARD:0020131,GARD:0021064,Rare neoplastic disease +GARD:0020548,GARD:0022536,GARD:0020131,GARD:0002714,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020548,GARD:0022536,GARD:0020131,GARD:0021064,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020548,GARD:0022522,GARD:0020131,GARD:0002714,Rare hematologic disease +GARD:0020548,GARD:0022535,GARD:0020131,GARD:0011953,Rare neoplastic disease +GARD:0020548,GARD:0022522,GARD:0020131,GARD:0021064,Rare hematologic disease +GARD:0020548,GARD:0022535,GARD:0020131,GARD:0002714,Rare neoplastic disease +GARD:0020548,GARD:0022522,GARD:0020131,GARD:0011953,Rare hematologic disease +GARD:0020548,GARD:0022522,GARD:0020131,GARD:0020109,Rare hematologic disease +GARD:0020548,GARD:0022536,GARD:0020131,GARD:0020109,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020548,GARD:0022535,GARD:0020131,GARD:0020109,Rare neoplastic disease +GARD:0020548,GARD:0022536,GARD:0020131,GARD:0011953,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020549,GARD:0022524,GARD:0005040,,Rare neurologic disease +GARD:0020549,GARD:0022531,GARD:0005040,,Rare genetic disease +GARD:0020550,GARD:0022524,GARD:0020089,GARD:0005854,Rare neurologic disease +GARD:0020550,GARD:0022524,GARD:0020089,GARD:0010870,Rare neurologic disease +GARD:0020550,GARD:0022531,GARD:0020089,GARD:0000094,Rare genetic disease +GARD:0020550,GARD:0022531,GARD:0020089,GARD:0021615,Rare genetic disease +GARD:0020550,GARD:0022531,GARD:0020089,GARD:0010739,Rare genetic disease +GARD:0020550,GARD:0022524,GARD:0020089,GARD:0021615,Rare neurologic disease +GARD:0020550,GARD:0022524,GARD:0020089,GARD:0010739,Rare neurologic disease +GARD:0020550,GARD:0022531,GARD:0020089,GARD:0016621,Rare genetic disease +GARD:0020550,GARD:0022531,GARD:0020089,GARD:0005854,Rare genetic disease +GARD:0020550,GARD:0022531,GARD:0020089,GARD:0010870,Rare genetic disease +GARD:0020550,GARD:0022524,GARD:0020089,GARD:0016621,Rare neurologic disease +GARD:0020550,GARD:0022531,GARD:0020089,GARD:0003807,Rare genetic disease +GARD:0020550,GARD:0022524,GARD:0020089,GARD:0000094,Rare neurologic disease +GARD:0020550,GARD:0022524,GARD:0020089,GARD:0003807,Rare neurologic disease +GARD:0020551,GARD:0022524,GARD:0020089,GARD:0007917,Rare neurologic disease +GARD:0020551,GARD:0022531,GARD:0020089,GARD:0013319,Rare genetic disease +GARD:0020551,GARD:0022531,GARD:0020089,GARD:0007917,Rare genetic disease +GARD:0020551,GARD:0022524,GARD:0020089,GARD:0013160,Rare neurologic disease +GARD:0020551,GARD:0022531,GARD:0020089,GARD:0000559,Rare genetic disease +GARD:0020551,GARD:0022524,GARD:0020089,GARD:0000559,Rare neurologic disease +GARD:0020551,GARD:0022524,GARD:0020089,GARD:0004543,Rare neurologic disease +GARD:0020551,GARD:0022524,GARD:0020089,GARD:0013319,Rare neurologic disease +GARD:0020551,GARD:0022524,GARD:0020089,GARD:0005758,Rare neurologic disease +GARD:0020551,GARD:0022524,GARD:0020089,GARD:0004648,Rare neurologic disease +GARD:0020551,GARD:0022531,GARD:0020089,GARD:0005758,Rare genetic disease +GARD:0020551,GARD:0022531,GARD:0020089,GARD:0004543,Rare genetic disease +GARD:0020551,GARD:0022531,GARD:0020089,GARD:0004648,Rare genetic disease +GARD:0020551,GARD:0022531,GARD:0020089,GARD:0013160,Rare genetic disease +GARD:0020552,GARD:0022524,GARD:0020089,GARD:0005984,Rare neurologic disease +GARD:0020552,GARD:0022531,GARD:0020089,GARD:0017994,Rare genetic disease +GARD:0020552,GARD:0022524,GARD:0020089,GARD:0010267,Rare neurologic disease +GARD:0020552,GARD:0022531,GARD:0020089,GARD:0006667,Rare genetic disease +GARD:0020552,GARD:0022531,GARD:0020089,GARD:0002847,Rare genetic disease +GARD:0020552,GARD:0022524,GARD:0020089,GARD:0002847,Rare neurologic disease +GARD:0020552,GARD:0022524,GARD:0020089,GARD:0016549,Rare neurologic disease +GARD:0020552,GARD:0022531,GARD:0020089,GARD:0017940,Rare genetic disease +GARD:0020552,GARD:0022524,GARD:0020089,GARD:0007383,Rare neurologic disease +GARD:0020552,GARD:0022531,GARD:0020089,GARD:0010761,Rare genetic disease +GARD:0020552,GARD:0022524,GARD:0020089,GARD:0006667,Rare neurologic disease +GARD:0020552,GARD:0022531,GARD:0020089,GARD:0010322,Rare genetic disease +GARD:0020552,GARD:0022524,GARD:0020089,GARD:0010761,Rare neurologic disease +GARD:0020552,GARD:0022531,GARD:0020089,GARD:0016549,Rare genetic disease +GARD:0020552,GARD:0022531,GARD:0020089,GARD:0006710,Rare genetic disease +GARD:0020552,GARD:0022524,GARD:0020089,GARD:0010322,Rare neurologic disease +GARD:0020552,GARD:0022524,GARD:0020089,GARD:0007219,Rare neurologic disease +GARD:0020552,GARD:0022524,GARD:0020089,GARD:0017389,Rare neurologic disease +GARD:0020552,GARD:0022524,GARD:0020089,GARD:0006710,Rare neurologic disease +GARD:0020552,GARD:0022531,GARD:0020089,GARD:0005984,Rare genetic disease +GARD:0020552,GARD:0022524,GARD:0020089,GARD:0017994,Rare neurologic disease +GARD:0020552,GARD:0022531,GARD:0020089,GARD:0007219,Rare genetic disease +GARD:0020552,GARD:0022531,GARD:0020089,GARD:0017389,Rare genetic disease +GARD:0020552,GARD:0022531,GARD:0020089,GARD:0007383,Rare genetic disease +GARD:0020552,GARD:0022531,GARD:0020089,GARD:0010267,Rare genetic disease +GARD:0020552,GARD:0022524,GARD:0020089,GARD:0017940,Rare neurologic disease +GARD:0020553,GARD:0022524,GARD:0020089,GARD:0007893,Rare neurologic disease +GARD:0020553,GARD:0022531,GARD:0020089,GARD:0007893,Rare genetic disease +GARD:0020553,GARD:0022524,GARD:0020089,GARD:0001521,Rare neurologic disease +GARD:0020553,GARD:0022531,GARD:0020089,GARD:0001521,Rare genetic disease +GARD:0020554,GARD:0022524,GARD:0020089,GARD:0012469,Rare neurologic disease +GARD:0020554,GARD:0022531,GARD:0020089,GARD:0020555,Rare genetic disease +GARD:0020554,GARD:0022531,GARD:0020089,GARD:0009870,Rare genetic disease +GARD:0020554,GARD:0022531,GARD:0020089,GARD:0005287,Rare genetic disease +GARD:0020554,GARD:0022524,GARD:0020089,GARD:0018952,Rare neurologic disease +GARD:0020554,GARD:0022524,GARD:0020089,GARD:0020555,Rare neurologic disease +GARD:0020554,GARD:0022531,GARD:0020089,GARD:0018952,Rare genetic disease +GARD:0020554,GARD:0022524,GARD:0020089,GARD:0005287,Rare neurologic disease +GARD:0020554,GARD:0022524,GARD:0020089,GARD:0009870,Rare neurologic disease +GARD:0020554,GARD:0022531,GARD:0020089,GARD:0012469,Rare genetic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0007144,Rare genetic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0006476,Rare neurologic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0003908,Rare neurologic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0005783,Rare neurologic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0009920,Rare genetic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0006817,Rare genetic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0006817,Rare neurologic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0000262,Rare neurologic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0009920,Rare neurologic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0009178,Rare neurologic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0006877,Rare genetic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0009178,Rare genetic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0009998,Rare neurologic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0003908,Rare genetic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0010423,Rare neurologic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0000617,Rare neurologic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0000617,Rare genetic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0007144,Rare neurologic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0005783,Rare genetic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0009998,Rare genetic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0007513,Rare neurologic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0007513,Rare genetic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0000262,Rare genetic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0006877,Rare neurologic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0007009,Rare neurologic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0010423,Rare genetic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0012678,Rare genetic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0006476,Rare genetic disease +GARD:0020555,GARD:0022531,GARD:0020554,GARD:0007009,Rare genetic disease +GARD:0020555,GARD:0022524,GARD:0020554,GARD:0012678,Rare neurologic disease +GARD:0020556,GARD:0022531,GARD:0020382,GARD:0009178,Rare genetic disease +GARD:0020556,GARD:0022524,GARD:0020382,GARD:0006476,Rare neurologic disease +GARD:0020556,GARD:0022531,GARD:0020382,GARD:0006817,Rare genetic disease +GARD:0020556,GARD:0022531,GARD:0020382,GARD:0006476,Rare genetic disease +GARD:0020556,GARD:0022524,GARD:0020382,GARD:0007144,Rare neurologic disease +GARD:0020556,GARD:0022524,GARD:0020382,GARD:0006877,Rare neurologic disease +GARD:0020556,GARD:0022531,GARD:0020382,GARD:0009920,Rare genetic disease +GARD:0020556,GARD:0022524,GARD:0020382,GARD:0000262,Rare neurologic disease +GARD:0020556,GARD:0022531,GARD:0020382,GARD:0007513,Rare genetic disease +GARD:0020556,GARD:0022531,GARD:0020382,GARD:0006877,Rare genetic disease +GARD:0020556,GARD:0022524,GARD:0020382,GARD:0007513,Rare neurologic disease +GARD:0020556,GARD:0022524,GARD:0020382,GARD:0006817,Rare neurologic disease +GARD:0020556,GARD:0022531,GARD:0020382,GARD:0009998,Rare genetic disease +GARD:0020556,GARD:0022531,GARD:0020382,GARD:0007144,Rare genetic disease +GARD:0020556,GARD:0022524,GARD:0020382,GARD:0000617,Rare neurologic disease +GARD:0020556,GARD:0022531,GARD:0020382,GARD:0010423,Rare genetic disease +GARD:0020556,GARD:0022524,GARD:0020382,GARD:0009920,Rare neurologic disease +GARD:0020556,GARD:0022524,GARD:0020382,GARD:0005783,Rare neurologic disease +GARD:0020556,GARD:0022524,GARD:0020382,GARD:0007009,Rare neurologic disease +GARD:0020556,GARD:0022524,GARD:0020382,GARD:0009178,Rare neurologic disease +GARD:0020556,GARD:0022524,GARD:0020382,GARD:0009998,Rare neurologic disease +GARD:0020556,GARD:0022531,GARD:0020382,GARD:0005783,Rare genetic disease +GARD:0020556,GARD:0022531,GARD:0020382,GARD:0000262,Rare genetic disease +GARD:0020556,GARD:0022524,GARD:0020382,GARD:0010423,Rare neurologic disease +GARD:0020556,GARD:0022531,GARD:0020382,GARD:0000617,Rare genetic disease +GARD:0020556,GARD:0022531,GARD:0020382,GARD:0007009,Rare genetic disease +GARD:0020557,GARD:0022524,GARD:0020089,GARD:0009298,Rare neurologic disease +GARD:0020557,GARD:0022524,GARD:0020089,GARD:0018979,Rare neurologic disease +GARD:0020557,GARD:0022531,GARD:0020089,GARD:0007695,Rare genetic disease +GARD:0020557,GARD:0022531,GARD:0020089,GARD:0010730,Rare genetic disease +GARD:0020557,GARD:0022531,GARD:0020089,GARD:0018979,Rare genetic disease +GARD:0020557,GARD:0022524,GARD:0020089,GARD:0007695,Rare neurologic disease +GARD:0020557,GARD:0022531,GARD:0020089,GARD:0009298,Rare genetic disease +GARD:0020557,GARD:0022524,GARD:0020089,GARD:0010730,Rare neurologic disease +GARD:0020557,GARD:0022524,GARD:0020089,GARD:0016669,Rare neurologic disease +GARD:0020557,GARD:0022531,GARD:0020089,GARD:0000194,Rare genetic disease +GARD:0020557,GARD:0022524,GARD:0020089,GARD:0000194,Rare neurologic disease +GARD:0020557,GARD:0022531,GARD:0020089,GARD:0016669,Rare genetic disease +GARD:0020558,GARD:0022531,GARD:0020089,GARD:0005622,Rare genetic disease +GARD:0020558,GARD:0022524,GARD:0020089,GARD:0005622,Rare neurologic disease +GARD:0020559,GARD:0022531,GARD:0020089,GARD:0018018,Rare genetic disease +GARD:0020559,GARD:0022531,GARD:0020089,GARD:0000550,Rare genetic disease +GARD:0020559,GARD:0022524,GARD:0020089,GARD:0010594,Rare neurologic disease +GARD:0020559,GARD:0022524,GARD:0020089,GARD:0010731,Rare neurologic disease +GARD:0020559,GARD:0022531,GARD:0020089,GARD:0010594,Rare genetic disease +GARD:0020559,GARD:0022531,GARD:0020089,GARD:0003956,Rare genetic disease +GARD:0020559,GARD:0022531,GARD:0020089,GARD:0013423,Rare genetic disease +GARD:0020559,GARD:0022524,GARD:0020089,GARD:0000550,Rare neurologic disease +GARD:0020559,GARD:0022524,GARD:0020089,GARD:0011000,Rare neurologic disease +GARD:0020559,GARD:0022531,GARD:0020089,GARD:0009265,Rare genetic disease +GARD:0020559,GARD:0022524,GARD:0020089,GARD:0009265,Rare neurologic disease +GARD:0020559,GARD:0022524,GARD:0020089,GARD:0017806,Rare neurologic disease +GARD:0020559,GARD:0022524,GARD:0020089,GARD:0003956,Rare neurologic disease +GARD:0020559,GARD:0022531,GARD:0020089,GARD:0010731,Rare genetic disease +GARD:0020559,GARD:0022531,GARD:0020089,GARD:0017806,Rare genetic disease +GARD:0020559,GARD:0022524,GARD:0020089,GARD:0013423,Rare neurologic disease +GARD:0020559,GARD:0022531,GARD:0020089,GARD:0002734,Rare genetic disease +GARD:0020559,GARD:0022531,GARD:0020089,GARD:0011000,Rare genetic disease +GARD:0020559,GARD:0022524,GARD:0020089,GARD:0002734,Rare neurologic disease +GARD:0020559,GARD:0022524,GARD:0020089,GARD:0018018,Rare neurologic disease +GARD:0020560,GARD:0022531,GARD:0001487,GARD:0020137,Rare genetic disease +GARD:0020560,GARD:0022531,GARD:0020012,GARD:0012280,Rare genetic disease +GARD:0020560,GARD:0022531,GARD:0001487,GARD:0012280,Rare genetic disease +GARD:0020560,GARD:0022521,GARD:0001487,GARD:0012280,Rare endocrine disease +GARD:0020560,GARD:0022531,GARD:0020012,GARD:0020561,Rare genetic disease +GARD:0020560,GARD:0022521,GARD:0001487,GARD:0020137,Rare endocrine disease +GARD:0020560,GARD:0022531,GARD:0020012,GARD:0020137,Rare genetic disease +GARD:0020560,GARD:0022521,GARD:0001487,GARD:0020561,Rare endocrine disease +GARD:0020560,GARD:0022531,GARD:0001487,GARD:0020561,Rare genetic disease +GARD:0020561,GARD:0022521,GARD:0020560,GARD:0019295,Rare endocrine disease +GARD:0020561,GARD:0022531,GARD:0020560,GARD:0019295,Rare genetic disease +GARD:0020561,GARD:0022521,GARD:0020560,GARD:0019296,Rare endocrine disease +GARD:0020561,GARD:0022531,GARD:0020560,GARD:0019296,Rare genetic disease +GARD:0020562,GARD:0022521,GARD:0012280,,Rare endocrine disease +GARD:0020562,GARD:0022531,GARD:0012280,,Rare genetic disease +GARD:0020563,GARD:0022521,GARD:0020645,,Rare endocrine disease +GARD:0020564,GARD:0022531,GARD:0001487,,Rare genetic disease +GARD:0020564,GARD:0022521,GARD:0020646,,Rare endocrine disease +GARD:0020565,GARD:0022524,GARD:0007079,,Rare neurologic disease +GARD:0020565,GARD:0022524,GARD:0020655,,Rare neurologic disease +GARD:0020566,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0020567,GARD:0022521,GARD:0021116,,Rare endocrine disease +GARD:0020568,GARD:0022534,GARD:0022534,,Rare abdominal surgical disease +GARD:0020568,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0020569,GARD:0022525,GARD:0019981,,Rare systemic or rheumatologic disease +GARD:0020569,GARD:0022527,GARD:0019981,,Rare circulatory system disease +GARD:0020570,GARD:0022509,GARD:0020047,,Rare infectious disease +GARD:0020571,GARD:0022524,GARD:0020239,GARD:0020572,Rare neurologic disease +GARD:0020571,GARD:0022524,GARD:0020239,GARD:0006267,Rare neurologic disease +GARD:0020571,GARD:0022524,GARD:0020239,GARD:0008639,Rare neurologic disease +GARD:0020571,GARD:0022524,GARD:0020239,GARD:0010443,Rare neurologic disease +GARD:0020571,GARD:0022524,GARD:0020239,GARD:0016661,Rare neurologic disease +GARD:0020571,GARD:0022524,GARD:0020239,GARD:0005885,Rare neurologic disease +GARD:0020572,GARD:0022524,GARD:0020571,,Rare neurologic disease +GARD:0020573,GARD:0022531,GARD:0021728,GARD:0002614,Rare genetic disease +GARD:0020573,GARD:0022511,GARD:0021572,GARD:0002614,Rare bone disease +GARD:0020573,GARD:0022513,GARD:0021572,GARD:0009847,Rare developmental defect during embryogenesis +GARD:0020573,GARD:0022513,GARD:0021572,GARD:0017148,Rare developmental defect during embryogenesis +GARD:0020573,GARD:0022531,GARD:0021728,GARD:0000968,Rare genetic disease +GARD:0020573,GARD:0022513,GARD:0019871,GARD:0000968,Rare developmental defect during embryogenesis +GARD:0020573,GARD:0022531,GARD:0021728,GARD:0009846,Rare genetic disease +GARD:0020573,GARD:0022531,GARD:0021728,GARD:0006666,Rare genetic disease +GARD:0020573,GARD:0022511,GARD:0021572,GARD:0000968,Rare bone disease +GARD:0020573,GARD:0022513,GARD:0021572,GARD:0000968,Rare developmental defect during embryogenesis +GARD:0020573,GARD:0022531,GARD:0021726,GARD:0017148,Rare genetic disease +GARD:0020573,GARD:0022531,GARD:0021726,GARD:0017448,Rare genetic disease +GARD:0020573,GARD:0022511,GARD:0021572,GARD:0006666,Rare bone disease +GARD:0020573,GARD:0022513,GARD:0019871,GARD:0017148,Rare developmental defect during embryogenesis +GARD:0020573,GARD:0022513,GARD:0019871,GARD:0006666,Rare developmental defect during embryogenesis +GARD:0020573,GARD:0022513,GARD:0019871,GARD:0009846,Rare developmental defect during embryogenesis +GARD:0020573,GARD:0022531,GARD:0021726,GARD:0000968,Rare genetic disease +GARD:0020573,GARD:0022511,GARD:0021572,GARD:0017448,Rare bone disease +GARD:0020573,GARD:0022513,GARD:0021572,GARD:0009846,Rare developmental defect during embryogenesis +GARD:0020573,GARD:0022511,GARD:0021572,GARD:0017148,Rare bone disease +GARD:0020573,GARD:0022531,GARD:0021726,GARD:0009846,Rare genetic disease +GARD:0020573,GARD:0022513,GARD:0021572,GARD:0017448,Rare developmental defect during embryogenesis +GARD:0020573,GARD:0022531,GARD:0021728,GARD:0017148,Rare genetic disease +GARD:0020573,GARD:0022511,GARD:0021572,GARD:0009846,Rare bone disease +GARD:0020573,GARD:0022531,GARD:0021726,GARD:0009847,Rare genetic disease +GARD:0020573,GARD:0022513,GARD:0019871,GARD:0017448,Rare developmental defect during embryogenesis +GARD:0020573,GARD:0022531,GARD:0021726,GARD:0002614,Rare genetic disease +GARD:0020573,GARD:0022513,GARD:0019871,GARD:0002614,Rare developmental defect during embryogenesis +GARD:0020573,GARD:0022511,GARD:0021572,GARD:0009847,Rare bone disease +GARD:0020573,GARD:0022513,GARD:0021572,GARD:0006666,Rare developmental defect during embryogenesis +GARD:0020573,GARD:0022531,GARD:0021728,GARD:0009847,Rare genetic disease +GARD:0020573,GARD:0022513,GARD:0021572,GARD:0002614,Rare developmental defect during embryogenesis +GARD:0020573,GARD:0022513,GARD:0019871,GARD:0009847,Rare developmental defect during embryogenesis +GARD:0020573,GARD:0022531,GARD:0021726,GARD:0006666,Rare genetic disease +GARD:0020573,GARD:0022531,GARD:0021728,GARD:0017448,Rare genetic disease +GARD:0020574,GARD:0022510,GARD:0019007,GARD:0009643,Rare skin disease +GARD:0020574,GARD:0022531,GARD:0020272,GARD:0006227,Rare genetic disease +GARD:0020574,GARD:0022531,GARD:0020272,GARD:0016796,Rare genetic disease +GARD:0020574,GARD:0022531,GARD:0020272,GARD:0006322,Rare genetic disease +GARD:0020574,GARD:0022531,GARD:0020272,GARD:0013331,Rare genetic disease +GARD:0020574,GARD:0022510,GARD:0019007,GARD:0006227,Rare skin disease +GARD:0020574,GARD:0022531,GARD:0020272,GARD:0009799,Rare genetic disease +GARD:0020574,GARD:0022510,GARD:0019007,GARD:0009799,Rare skin disease +GARD:0020574,GARD:0022510,GARD:0019007,GARD:0017156,Rare skin disease +GARD:0020574,GARD:0022531,GARD:0020272,GARD:0020585,Rare genetic disease +GARD:0020574,GARD:0022510,GARD:0019007,GARD:0006322,Rare skin disease +GARD:0020574,GARD:0022510,GARD:0019007,GARD:0003054,Rare skin disease +GARD:0020574,GARD:0022510,GARD:0019007,GARD:0020585,Rare skin disease +GARD:0020574,GARD:0022531,GARD:0020272,GARD:0017156,Rare genetic disease +GARD:0020574,GARD:0022510,GARD:0019007,GARD:0013331,Rare skin disease +GARD:0020574,GARD:0022510,GARD:0019007,GARD:0001813,Rare skin disease +GARD:0020574,GARD:0022531,GARD:0020272,GARD:0001813,Rare genetic disease +GARD:0020574,GARD:0022531,GARD:0020272,GARD:0003054,Rare genetic disease +GARD:0020574,GARD:0022510,GARD:0019007,GARD:0001550,Rare skin disease +GARD:0020574,GARD:0022510,GARD:0019007,GARD:0021820,Rare skin disease +GARD:0020574,GARD:0022531,GARD:0020272,GARD:0021820,Rare genetic disease +GARD:0020574,GARD:0022531,GARD:0020272,GARD:0001550,Rare genetic disease +GARD:0020574,GARD:0022531,GARD:0020272,GARD:0001044,Rare genetic disease +GARD:0020574,GARD:0022510,GARD:0019007,GARD:0001044,Rare skin disease +GARD:0020574,GARD:0022510,GARD:0019007,GARD:0016796,Rare skin disease +GARD:0020574,GARD:0022531,GARD:0020272,GARD:0009643,Rare genetic disease +GARD:0020575,GARD:0022510,GARD:0019007,GARD:0020577,Rare skin disease +GARD:0020575,GARD:0022510,GARD:0019007,GARD:0020576,Rare skin disease +GARD:0020576,GARD:0022510,GARD:0020575,GARD:0020583,Rare skin disease +GARD:0020576,GARD:0022510,GARD:0020575,GARD:0020588,Rare skin disease +GARD:0020576,GARD:0022510,GARD:0020575,GARD:0020589,Rare skin disease +GARD:0020576,GARD:0022510,GARD:0020575,GARD:0020586,Rare skin disease +GARD:0020576,GARD:0022510,GARD:0020575,GARD:0020587,Rare skin disease +GARD:0020576,GARD:0022510,GARD:0020575,GARD:0020584,Rare skin disease +GARD:0020576,GARD:0022510,GARD:0020575,GARD:0020544,Rare skin disease +GARD:0020577,GARD:0022510,GARD:0020575,GARD:0010103,Rare skin disease +GARD:0020577,GARD:0022510,GARD:0020575,GARD:0012716,Rare skin disease +GARD:0020577,GARD:0022510,GARD:0020575,GARD:0020581,Rare skin disease +GARD:0020577,GARD:0022510,GARD:0020575,GARD:0020578,Rare skin disease +GARD:0020577,GARD:0022510,GARD:0020575,GARD:0020580,Rare skin disease +GARD:0020577,GARD:0022510,GARD:0020575,GARD:0000125,Rare skin disease +GARD:0020577,GARD:0022510,GARD:0020575,GARD:0020582,Rare skin disease +GARD:0020577,GARD:0022510,GARD:0020575,GARD:0020579,Rare skin disease +GARD:0020578,GARD:0022510,GARD:0020577,,Rare skin disease +GARD:0020579,GARD:0022510,GARD:0020577,,Rare skin disease +GARD:0020580,GARD:0022510,GARD:0020577,,Rare skin disease +GARD:0020581,GARD:0022510,GARD:0020577,,Rare skin disease +GARD:0020582,GARD:0022510,GARD:0020577,,Rare skin disease +GARD:0020583,GARD:0022510,GARD:0020576,,Rare skin disease +GARD:0020584,GARD:0022510,GARD:0020576,,Rare skin disease +GARD:0020585,GARD:0022510,GARD:0020574,,Rare skin disease +GARD:0020585,GARD:0022531,GARD:0020574,,Rare genetic disease +GARD:0020586,GARD:0022510,GARD:0020576,,Rare skin disease +GARD:0020587,GARD:0022510,GARD:0020576,,Rare skin disease +GARD:0020588,GARD:0022510,GARD:0020576,,Rare skin disease +GARD:0020589,GARD:0022510,GARD:0020576,,Rare skin disease +GARD:0020590,GARD:0022522,GARD:0005870,GARD:0006130,Rare hematologic disease +GARD:0020590,GARD:0022522,GARD:0005870,GARD:0007335,Rare hematologic disease +GARD:0020591,GARD:0022509,GARD:0000943,,Rare infectious disease +GARD:0020591,GARD:0022524,GARD:0000943,,Rare neurologic disease +GARD:0020591,GARD:0022520,GARD:0000943,,Rare ophthalmic disorder +GARD:0020592,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0020592,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0020593,GARD:0022520,GARD:0022083,,Rare ophthalmic disorder +GARD:0020593,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0020593,GARD:0022513,GARD:0022083,,Rare developmental defect during embryogenesis +GARD:0020593,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0020593,GARD:0022531,GARD:0022083,,Rare genetic disease +GARD:0020593,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0020594,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0020594,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0020594,GARD:0022513,GARD:0019905,,Rare developmental defect during embryogenesis +GARD:0020594,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0020594,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0020594,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0020594,GARD:0022531,GARD:0019905,,Rare genetic disease +GARD:0020594,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0020595,GARD:0022531,GARD:0020876,,Rare genetic disease +GARD:0020595,GARD:0022513,GARD:0020876,,Rare developmental defect during embryogenesis +GARD:0020596,GARD:0022523,GARD:0020320,GARD:0010011,Rare immune disease +GARD:0020596,GARD:0022531,GARD:0020320,GARD:0022284,Rare genetic disease +GARD:0020596,GARD:0022531,GARD:0020320,GARD:0016538,Rare genetic disease +GARD:0020596,GARD:0022531,GARD:0020320,GARD:0010011,Rare genetic disease +GARD:0020596,GARD:0022523,GARD:0020320,GARD:0022284,Rare immune disease +GARD:0020596,GARD:0022523,GARD:0020320,GARD:0016538,Rare immune disease +GARD:0020597,GARD:0022524,GARD:0000943,GARD:0020151,Rare neurologic disease +GARD:0020597,GARD:0022520,GARD:0000943,GARD:0020151,Rare ophthalmic disorder +GARD:0020597,GARD:0022509,GARD:0000943,GARD:0020151,Rare infectious disease +GARD:0020597,GARD:0022524,GARD:0000943,GARD:0020149,Rare neurologic disease +GARD:0020597,GARD:0022520,GARD:0000943,GARD:0020149,Rare ophthalmic disorder +GARD:0020597,GARD:0022509,GARD:0000943,GARD:0020149,Rare infectious disease +GARD:0020598,GARD:0022516,GARD:0019786,,Rare gastroenterologic disease +GARD:0020599,GARD:0022510,GARD:0021160,,Rare skin disease +GARD:0020599,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0020600,GARD:0022536,GARD:0003343,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020600,GARD:0022507,GARD:0003343,,Rare maxillo-facial surgical disease +GARD:0020600,GARD:0022535,GARD:0003343,,Rare neoplastic disease +GARD:0020600,GARD:0022528,GARD:0003343,,Rare otorhinolaryngologic disease +GARD:0020600,GARD:0022515,GARD:0003343,,Rare cardiac disease +GARD:0020600,GARD:0022512,GARD:0003343,,Rare renal disease +GARD:0020600,GARD:0022531,GARD:0003343,,Rare genetic disease +GARD:0020600,GARD:0022513,GARD:0003343,,Rare developmental defect during embryogenesis +GARD:0020601,GARD:0022513,GARD:0003343,,Rare developmental defect during embryogenesis +GARD:0020601,GARD:0022531,GARD:0020815,,Rare genetic disease +GARD:0020601,GARD:0022515,GARD:0003343,,Rare cardiac disease +GARD:0020601,GARD:0022535,GARD:0003343,,Rare neoplastic disease +GARD:0020601,GARD:0022531,GARD:0003343,,Rare genetic disease +GARD:0020601,GARD:0022513,GARD:0020815,,Rare developmental defect during embryogenesis +GARD:0020601,GARD:0022507,GARD:0003343,,Rare maxillo-facial surgical disease +GARD:0020601,GARD:0022528,GARD:0003343,,Rare otorhinolaryngologic disease +GARD:0020601,GARD:0022512,GARD:0003343,,Rare renal disease +GARD:0020601,GARD:0022536,GARD:0003343,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020602,GARD:0022531,GARD:0020906,,Rare genetic disease +GARD:0020602,GARD:0022528,GARD:0003343,,Rare otorhinolaryngologic disease +GARD:0020602,GARD:0022535,GARD:0003343,,Rare neoplastic disease +GARD:0020602,GARD:0022507,GARD:0003343,,Rare maxillo-facial surgical disease +GARD:0020602,GARD:0022536,GARD:0003343,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020602,GARD:0022513,GARD:0003343,,Rare developmental defect during embryogenesis +GARD:0020602,GARD:0022515,GARD:0003343,,Rare cardiac disease +GARD:0020602,GARD:0022512,GARD:0003343,,Rare renal disease +GARD:0020602,GARD:0022513,GARD:0020906,,Rare developmental defect during embryogenesis +GARD:0020602,GARD:0022531,GARD:0003343,,Rare genetic disease +GARD:0020603,GARD:0022531,GARD:0020864,,Rare genetic disease +GARD:0020603,GARD:0022524,GARD:0004870,,Rare neurologic disease +GARD:0020603,GARD:0022535,GARD:0004870,,Rare neoplastic disease +GARD:0020603,GARD:0022531,GARD:0004870,,Rare genetic disease +GARD:0020603,GARD:0022513,GARD:0004870,,Rare developmental defect during embryogenesis +GARD:0020603,GARD:0022520,GARD:0004870,,Rare ophthalmic disorder +GARD:0020603,GARD:0022513,GARD:0020864,,Rare developmental defect during embryogenesis +GARD:0020604,GARD:0022531,GARD:0004870,,Rare genetic disease +GARD:0020604,GARD:0022520,GARD:0004870,,Rare ophthalmic disorder +GARD:0020604,GARD:0022513,GARD:0004870,,Rare developmental defect during embryogenesis +GARD:0020604,GARD:0022524,GARD:0004870,,Rare neurologic disease +GARD:0020604,GARD:0022535,GARD:0004870,,Rare neoplastic disease +GARD:0020605,GARD:0022531,GARD:0004870,,Rare genetic disease +GARD:0020605,GARD:0022524,GARD:0004870,,Rare neurologic disease +GARD:0020605,GARD:0022535,GARD:0004870,,Rare neoplastic disease +GARD:0020605,GARD:0022513,GARD:0020868,,Rare developmental defect during embryogenesis +GARD:0020605,GARD:0022513,GARD:0004870,,Rare developmental defect during embryogenesis +GARD:0020605,GARD:0022531,GARD:0020868,,Rare genetic disease +GARD:0020605,GARD:0022520,GARD:0004870,,Rare ophthalmic disorder +GARD:0020606,GARD:0022513,GARD:0019424,,Rare developmental defect during embryogenesis +GARD:0020606,GARD:0022520,GARD:0004870,,Rare ophthalmic disorder +GARD:0020606,GARD:0022535,GARD:0004870,,Rare neoplastic disease +GARD:0020606,GARD:0022513,GARD:0004870,,Rare developmental defect during embryogenesis +GARD:0020606,GARD:0022531,GARD:0004870,,Rare genetic disease +GARD:0020606,GARD:0022531,GARD:0019424,,Rare genetic disease +GARD:0020606,GARD:0022524,GARD:0004870,,Rare neurologic disease +GARD:0020607,GARD:0022531,GARD:0021023,GARD:0017165,Rare genetic disease +GARD:0020607,GARD:0022522,GARD:0021023,GARD:0020608,Rare hematologic disease +GARD:0020607,GARD:0022531,GARD:0021023,GARD:0020608,Rare genetic disease +GARD:0020607,GARD:0022531,GARD:0021023,GARD:0020609,Rare genetic disease +GARD:0020607,GARD:0022531,GARD:0021023,GARD:0018642,Rare genetic disease +GARD:0020607,GARD:0022536,GARD:0021023,GARD:0018642,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020607,GARD:0022522,GARD:0021023,GARD:0017165,Rare hematologic disease +GARD:0020607,GARD:0022536,GARD:0021023,GARD:0020608,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020607,GARD:0022531,GARD:0021023,GARD:0021505,Rare genetic disease +GARD:0020607,GARD:0022522,GARD:0021023,GARD:0021505,Rare hematologic disease +GARD:0020607,GARD:0022536,GARD:0021023,GARD:0021505,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020607,GARD:0022522,GARD:0021023,GARD:0020609,Rare hematologic disease +GARD:0020607,GARD:0022536,GARD:0021023,GARD:0020609,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020607,GARD:0022522,GARD:0021023,GARD:0018642,Rare hematologic disease +GARD:0020607,GARD:0022536,GARD:0021023,GARD:0017165,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020608,GARD:0022531,GARD:0020607,,Rare genetic disease +GARD:0020608,GARD:0022536,GARD:0020607,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020608,GARD:0022522,GARD:0020607,,Rare hematologic disease +GARD:0020609,GARD:0022522,GARD:0020607,,Rare hematologic disease +GARD:0020609,GARD:0022531,GARD:0020607,,Rare genetic disease +GARD:0020609,GARD:0022536,GARD:0020607,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020610,GARD:0022522,GARD:0021023,GARD:0017166,Rare hematologic disease +GARD:0020610,GARD:0022536,GARD:0021023,GARD:0017166,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020610,GARD:0022531,GARD:0021023,GARD:0017166,Rare genetic disease +GARD:0020611,GARD:0022524,GARD:0006554,GARD:0020612,Rare neurologic disease +GARD:0020611,GARD:0022524,GARD:0006554,GARD:0020613,Rare neurologic disease +GARD:0020612,GARD:0022524,GARD:0020611,GARD:0018944,Rare neurologic disease +GARD:0020612,GARD:0022524,GARD:0020611,GARD:0021984,Rare neurologic disease +GARD:0020612,GARD:0022524,GARD:0020611,GARD:0020614,Rare neurologic disease +GARD:0020612,GARD:0022524,GARD:0020611,GARD:0003668,Rare neurologic disease +GARD:0020613,GARD:0022524,GARD:0020611,GARD:0020617,Rare neurologic disease +GARD:0020613,GARD:0022524,GARD:0020611,GARD:0020618,Rare neurologic disease +GARD:0020613,GARD:0022524,GARD:0020611,GARD:0020616,Rare neurologic disease +GARD:0020613,GARD:0022524,GARD:0020611,GARD:0020615,Rare neurologic disease +GARD:0020614,GARD:0022524,GARD:0020612,,Rare neurologic disease +GARD:0020615,GARD:0022524,GARD:0020613,,Rare neurologic disease +GARD:0020616,GARD:0022524,GARD:0020613,,Rare neurologic disease +GARD:0020617,GARD:0022524,GARD:0020613,,Rare neurologic disease +GARD:0020618,GARD:0022524,GARD:0020613,,Rare neurologic disease +GARD:0020619,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0020620,GARD:0022521,GARD:0020623,,Rare endocrine disease +GARD:0020621,GARD:0022521,GARD:0020623,,Rare endocrine disease +GARD:0020622,GARD:0022521,GARD:0020624,,Rare endocrine disease +GARD:0020623,GARD:0022521,GARD:0020227,GARD:0017591,Rare endocrine disease +GARD:0020623,GARD:0022521,GARD:0020227,GARD:0020621,Rare endocrine disease +GARD:0020623,GARD:0022521,GARD:0020227,GARD:0020620,Rare endocrine disease +GARD:0020624,GARD:0022521,GARD:0020227,GARD:0020630,Rare endocrine disease +GARD:0020624,GARD:0022521,GARD:0020227,GARD:0020622,Rare endocrine disease +GARD:0020625,GARD:0022531,GARD:0020301,,Rare genetic disease +GARD:0020625,GARD:0022513,GARD:0019907,,Rare developmental defect during embryogenesis +GARD:0020626,GARD:0022505,GARD:0022505,GARD:0022036,Rare teratologic disease +GARD:0020626,GARD:0022513,GARD:0022505,GARD:0004744,Rare developmental defect during embryogenesis +GARD:0020626,GARD:0022513,GARD:0022505,GARD:0018903,Rare developmental defect during embryogenesis +GARD:0020626,GARD:0022509,GARD:0022509,GARD:0000045,Rare infectious disease +GARD:0020626,GARD:0022509,GARD:0022509,GARD:0018687,Rare infectious disease +GARD:0020626,GARD:0022513,GARD:0022505,GARD:0018708,Rare developmental defect during embryogenesis +GARD:0020626,GARD:0022505,GARD:0022505,GARD:0004236,Rare teratologic disease +GARD:0020626,GARD:0022509,GARD:0022509,GARD:0022036,Rare infectious disease +GARD:0020626,GARD:0022509,GARD:0022509,GARD:0004744,Rare infectious disease +GARD:0020626,GARD:0022505,GARD:0022505,GARD:0018708,Rare teratologic disease +GARD:0020626,GARD:0022509,GARD:0022509,GARD:0001480,Rare infectious disease +GARD:0020626,GARD:0022513,GARD:0022505,GARD:0001480,Rare developmental defect during embryogenesis +GARD:0020626,GARD:0022513,GARD:0022505,GARD:0018687,Rare developmental defect during embryogenesis +GARD:0020626,GARD:0022505,GARD:0022505,GARD:0004744,Rare teratologic disease +GARD:0020626,GARD:0022509,GARD:0022509,GARD:0018903,Rare infectious disease +GARD:0020626,GARD:0022509,GARD:0022509,GARD:0004236,Rare infectious disease +GARD:0020626,GARD:0022513,GARD:0022505,GARD:0004236,Rare developmental defect during embryogenesis +GARD:0020626,GARD:0022505,GARD:0022505,GARD:0001480,Rare teratologic disease +GARD:0020626,GARD:0022509,GARD:0022509,GARD:0018708,Rare infectious disease +GARD:0020626,GARD:0022513,GARD:0022505,GARD:0000045,Rare developmental defect during embryogenesis +GARD:0020626,GARD:0022513,GARD:0022505,GARD:0002130,Rare developmental defect during embryogenesis +GARD:0020626,GARD:0022505,GARD:0022505,GARD:0000045,Rare teratologic disease +GARD:0020626,GARD:0022505,GARD:0022505,GARD:0002130,Rare teratologic disease +GARD:0020626,GARD:0022505,GARD:0022505,GARD:0018903,Rare teratologic disease +GARD:0020626,GARD:0022505,GARD:0022505,GARD:0018687,Rare teratologic disease +GARD:0020626,GARD:0022513,GARD:0022505,GARD:0022036,Rare developmental defect during embryogenesis +GARD:0020626,GARD:0022509,GARD:0022509,GARD:0002130,Rare infectious disease +GARD:0020627,GARD:0022536,GARD:0021022,GARD:0016862,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020627,GARD:0022531,GARD:0021022,GARD:0005864,Rare genetic disease +GARD:0020627,GARD:0022531,GARD:0021022,GARD:0017167,Rare genetic disease +GARD:0020627,GARD:0022531,GARD:0021022,GARD:0016862,Rare genetic disease +GARD:0020627,GARD:0022522,GARD:0021022,GARD:0017167,Rare hematologic disease +GARD:0020627,GARD:0022536,GARD:0021022,GARD:0005864,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020627,GARD:0022522,GARD:0021022,GARD:0016862,Rare hematologic disease +GARD:0020627,GARD:0022536,GARD:0021022,GARD:0017167,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020627,GARD:0022522,GARD:0021022,GARD:0005864,Rare hematologic disease +GARD:0020628,GARD:0022527,GARD:0022014,GARD:0021130,Rare circulatory system disease +GARD:0020628,GARD:0022531,GARD:0022531,GARD:0017432,Rare genetic disease +GARD:0020628,GARD:0022531,GARD:0022531,GARD:0008480,Rare genetic disease +GARD:0020628,GARD:0022531,GARD:0022531,GARD:0008380,Rare genetic disease +GARD:0020628,GARD:0022527,GARD:0022014,GARD:0010762,Rare circulatory system disease +GARD:0020628,GARD:0022531,GARD:0022531,GARD:0021130,Rare genetic disease +GARD:0020628,GARD:0022531,GARD:0022531,GARD:0012383,Rare genetic disease +GARD:0020628,GARD:0022531,GARD:0022531,GARD:0009181,Rare genetic disease +GARD:0020628,GARD:0022531,GARD:0022531,GARD:0010762,Rare genetic disease +GARD:0020628,GARD:0022531,GARD:0022531,GARD:0012357,Rare genetic disease +GARD:0020628,GARD:0022527,GARD:0022014,GARD:0017432,Rare circulatory system disease +GARD:0020628,GARD:0022531,GARD:0022531,GARD:0007664,Rare genetic disease +GARD:0020628,GARD:0022527,GARD:0022014,GARD:0008480,Rare circulatory system disease +GARD:0020628,GARD:0022527,GARD:0022014,GARD:0008380,Rare circulatory system disease +GARD:0020628,GARD:0022527,GARD:0022014,GARD:0009181,Rare circulatory system disease +GARD:0020629,GARD:0022511,GARD:0022511,GARD:0003122,Rare bone disease +GARD:0020629,GARD:0022531,GARD:0020288,GARD:0016961,Rare genetic disease +GARD:0020629,GARD:0022531,GARD:0020288,GARD:0006542,Rare genetic disease +GARD:0020629,GARD:0022511,GARD:0022511,GARD:0018927,Rare bone disease +GARD:0020629,GARD:0022511,GARD:0022511,GARD:0021488,Rare bone disease +GARD:0020629,GARD:0022531,GARD:0020288,GARD:0003122,Rare genetic disease +GARD:0020629,GARD:0022511,GARD:0022511,GARD:0016961,Rare bone disease +GARD:0020629,GARD:0022531,GARD:0020288,GARD:0021488,Rare genetic disease +GARD:0020629,GARD:0022531,GARD:0020288,GARD:0018927,Rare genetic disease +GARD:0020629,GARD:0022511,GARD:0022511,GARD:0006542,Rare bone disease +GARD:0020630,GARD:0022512,GARD:0020010,GARD:0002790,Rare renal disease +GARD:0020630,GARD:0022521,GARD:0020624,GARD:0002789,Rare endocrine disease +GARD:0020630,GARD:0022527,GARD:0020010,GARD:0012362,Rare circulatory system disease +GARD:0020630,GARD:0022531,GARD:0021617,GARD:0002789,Rare genetic disease +GARD:0020630,GARD:0022521,GARD:0020624,GARD:0012362,Rare endocrine disease +GARD:0020630,GARD:0022512,GARD:0020010,GARD:0002789,Rare renal disease +GARD:0020630,GARD:0022536,GARD:0022061,GARD:0012362,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020630,GARD:0022531,GARD:0021617,GARD:0012362,Rare genetic disease +GARD:0020630,GARD:0022521,GARD:0020624,GARD:0002790,Rare endocrine disease +GARD:0020630,GARD:0022527,GARD:0020010,GARD:0002790,Rare circulatory system disease +GARD:0020630,GARD:0022527,GARD:0020010,GARD:0002789,Rare circulatory system disease +GARD:0020630,GARD:0022531,GARD:0021617,GARD:0002790,Rare genetic disease +GARD:0020630,GARD:0022531,GARD:0020010,GARD:0012362,Rare genetic disease +GARD:0020630,GARD:0022536,GARD:0022061,GARD:0002789,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020630,GARD:0022531,GARD:0020010,GARD:0002789,Rare genetic disease +GARD:0020630,GARD:0022512,GARD:0020010,GARD:0012362,Rare renal disease +GARD:0020630,GARD:0022531,GARD:0020010,GARD:0002790,Rare genetic disease +GARD:0020630,GARD:0022536,GARD:0022061,GARD:0002790,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020631,GARD:0022536,GARD:0008282,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020631,GARD:0022512,GARD:0008282,,Rare renal disease +GARD:0020631,GARD:0022525,GARD:0008282,,Rare systemic or rheumatologic disease +GARD:0020631,GARD:0022531,GARD:0008282,,Rare genetic disease +GARD:0020632,GARD:0022521,GARD:0019281,,Rare endocrine disease +GARD:0020633,GARD:0022523,GARD:0020117,GARD:0009797,Rare immune disease +GARD:0020633,GARD:0022531,GARD:0020117,GARD:0022465,Rare genetic disease +GARD:0020633,GARD:0022536,GARD:0022063,GARD:0012316,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020633,GARD:0022536,GARD:0022063,GARD:0022465,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020633,GARD:0022535,GARD:0019921,GARD:0012316,Rare neoplastic disease +GARD:0020633,GARD:0022531,GARD:0019921,GARD:0022466,Rare genetic disease +GARD:0020633,GARD:0022531,GARD:0019921,GARD:0017262,Rare genetic disease +GARD:0020633,GARD:0022531,GARD:0019921,GARD:0009797,Rare genetic disease +GARD:0020633,GARD:0022523,GARD:0020117,GARD:0008686,Rare immune disease +GARD:0020633,GARD:0022535,GARD:0019921,GARD:0017174,Rare neoplastic disease +GARD:0020633,GARD:0022536,GARD:0022063,GARD:0017978,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020633,GARD:0022531,GARD:0019921,GARD:0010915,Rare genetic disease +GARD:0020633,GARD:0022536,GARD:0022063,GARD:0017979,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020633,GARD:0022531,GARD:0020117,GARD:0017737,Rare genetic disease +GARD:0020633,GARD:0022531,GARD:0019921,GARD:0022465,Rare genetic disease +GARD:0020633,GARD:0022535,GARD:0019921,GARD:0009797,Rare neoplastic disease +GARD:0020633,GARD:0022531,GARD:0019921,GARD:0017979,Rare genetic disease +GARD:0020633,GARD:0022531,GARD:0020117,GARD:0009796,Rare genetic disease +GARD:0020633,GARD:0022535,GARD:0019921,GARD:0017981,Rare neoplastic disease +GARD:0020633,GARD:0022523,GARD:0020117,GARD:0010915,Rare immune disease +GARD:0020633,GARD:0022536,GARD:0022063,GARD:0010915,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020633,GARD:0022536,GARD:0022063,GARD:0017737,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020633,GARD:0022535,GARD:0019921,GARD:0017979,Rare neoplastic disease +GARD:0020633,GARD:0022535,GARD:0019921,GARD:0010915,Rare neoplastic disease +GARD:0020633,GARD:0022531,GARD:0020117,GARD:0017979,Rare genetic disease +GARD:0020633,GARD:0022535,GARD:0019921,GARD:0017737,Rare neoplastic disease +GARD:0020633,GARD:0022523,GARD:0020117,GARD:0017981,Rare immune disease +GARD:0020633,GARD:0022531,GARD:0020117,GARD:0017978,Rare genetic disease +GARD:0020633,GARD:0022536,GARD:0022063,GARD:0017262,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020633,GARD:0022535,GARD:0019921,GARD:0008686,Rare neoplastic disease +GARD:0020633,GARD:0022523,GARD:0020117,GARD:0017262,Rare immune disease +GARD:0020633,GARD:0022536,GARD:0022063,GARD:0009796,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020633,GARD:0022531,GARD:0019921,GARD:0017174,Rare genetic disease +GARD:0020633,GARD:0022523,GARD:0020117,GARD:0012316,Rare immune disease +GARD:0020633,GARD:0022531,GARD:0019921,GARD:0009796,Rare genetic disease +GARD:0020633,GARD:0022531,GARD:0019921,GARD:0017737,Rare genetic disease +GARD:0020633,GARD:0022536,GARD:0022063,GARD:0017174,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020633,GARD:0022531,GARD:0020117,GARD:0012316,Rare genetic disease +GARD:0020633,GARD:0022536,GARD:0022063,GARD:0008686,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020633,GARD:0022531,GARD:0020117,GARD:0009797,Rare genetic disease +GARD:0020633,GARD:0022531,GARD:0020117,GARD:0017174,Rare genetic disease +GARD:0020633,GARD:0022536,GARD:0022063,GARD:0017981,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020633,GARD:0022531,GARD:0020117,GARD:0017262,Rare genetic disease +GARD:0020633,GARD:0022535,GARD:0019921,GARD:0009796,Rare neoplastic disease +GARD:0020633,GARD:0022535,GARD:0019921,GARD:0017262,Rare neoplastic disease +GARD:0020633,GARD:0022523,GARD:0020117,GARD:0017174,Rare immune disease +GARD:0020633,GARD:0022531,GARD:0019921,GARD:0012316,Rare genetic disease +GARD:0020633,GARD:0022531,GARD:0019921,GARD:0008686,Rare genetic disease +GARD:0020633,GARD:0022523,GARD:0020117,GARD:0017979,Rare immune disease +GARD:0020633,GARD:0022531,GARD:0020117,GARD:0017981,Rare genetic disease +GARD:0020633,GARD:0022531,GARD:0020117,GARD:0008686,Rare genetic disease +GARD:0020633,GARD:0022523,GARD:0020117,GARD:0022466,Rare immune disease +GARD:0020633,GARD:0022536,GARD:0022063,GARD:0022466,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020633,GARD:0022523,GARD:0020117,GARD:0022465,Rare immune disease +GARD:0020633,GARD:0022535,GARD:0019921,GARD:0022465,Rare neoplastic disease +GARD:0020633,GARD:0022536,GARD:0022063,GARD:0009797,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020633,GARD:0022535,GARD:0019921,GARD:0022466,Rare neoplastic disease +GARD:0020633,GARD:0022523,GARD:0020117,GARD:0009796,Rare immune disease +GARD:0020633,GARD:0022531,GARD:0019921,GARD:0017981,Rare genetic disease +GARD:0020633,GARD:0022523,GARD:0020117,GARD:0017978,Rare immune disease +GARD:0020633,GARD:0022523,GARD:0020117,GARD:0017737,Rare immune disease +GARD:0020633,GARD:0022535,GARD:0019921,GARD:0017978,Rare neoplastic disease +GARD:0020633,GARD:0022531,GARD:0019921,GARD:0017978,Rare genetic disease +GARD:0020633,GARD:0022531,GARD:0020117,GARD:0010915,Rare genetic disease +GARD:0020633,GARD:0022531,GARD:0020117,GARD:0022466,Rare genetic disease +GARD:0020634,GARD:0022531,GARD:0020306,GARD:0016999,Rare genetic disease +GARD:0020634,GARD:0022508,GARD:0018948,GARD:0017175,Rare inborn errors of metabolism +GARD:0020634,GARD:0022531,GARD:0021582,GARD:0016999,Rare genetic disease +GARD:0020634,GARD:0022536,GARD:0022061,GARD:0016998,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020634,GARD:0022531,GARD:0020306,GARD:0016998,Rare genetic disease +GARD:0020634,GARD:0022531,GARD:0018948,GARD:0016998,Rare genetic disease +GARD:0020634,GARD:0022512,GARD:0019230,GARD:0016998,Rare renal disease +GARD:0020634,GARD:0022531,GARD:0021582,GARD:0017175,Rare genetic disease +GARD:0020634,GARD:0022513,GARD:0021582,GARD:0017175,Rare developmental defect during embryogenesis +GARD:0020634,GARD:0022508,GARD:0018948,GARD:0016999,Rare inborn errors of metabolism +GARD:0020634,GARD:0022512,GARD:0019230,GARD:0016999,Rare renal disease +GARD:0020634,GARD:0022512,GARD:0019230,GARD:0017175,Rare renal disease +GARD:0020634,GARD:0022536,GARD:0022061,GARD:0016999,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020634,GARD:0022531,GARD:0018948,GARD:0016999,Rare genetic disease +GARD:0020634,GARD:0022513,GARD:0021582,GARD:0016999,Rare developmental defect during embryogenesis +GARD:0020634,GARD:0022531,GARD:0020306,GARD:0017175,Rare genetic disease +GARD:0020634,GARD:0022513,GARD:0021582,GARD:0016998,Rare developmental defect during embryogenesis +GARD:0020634,GARD:0022531,GARD:0018948,GARD:0017175,Rare genetic disease +GARD:0020634,GARD:0022536,GARD:0022061,GARD:0017175,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020634,GARD:0022531,GARD:0021582,GARD:0016998,Rare genetic disease +GARD:0020634,GARD:0022508,GARD:0018948,GARD:0016998,Rare inborn errors of metabolism +GARD:0020635,GARD:0022522,GARD:0019467,GARD:0020658,Rare hematologic disease +GARD:0020635,GARD:0022531,GARD:0019467,GARD:0017189,Rare genetic disease +GARD:0020635,GARD:0022522,GARD:0019467,GARD:0017176,Rare hematologic disease +GARD:0020635,GARD:0022522,GARD:0019467,GARD:0017189,Rare hematologic disease +GARD:0020635,GARD:0022531,GARD:0019467,GARD:0017176,Rare genetic disease +GARD:0020635,GARD:0022531,GARD:0019467,GARD:0020658,Rare genetic disease +GARD:0020636,GARD:0022522,GARD:0019467,GARD:0019104,Rare hematologic disease +GARD:0020637,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0020638,GARD:0022512,GARD:0019217,,Rare renal disease +GARD:0020638,GARD:0022513,GARD:0019217,,Rare developmental defect during embryogenesis +GARD:0020638,GARD:0022536,GARD:0019217,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020639,GARD:0022536,GARD:0018700,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020639,GARD:0022531,GARD:0018700,,Rare genetic disease +GARD:0020639,GARD:0022512,GARD:0018700,,Rare renal disease +GARD:0020639,GARD:0022513,GARD:0018700,,Rare developmental defect during embryogenesis +GARD:0020639,GARD:0022532,GARD:0018700,,Rare urogenital disease +GARD:0020640,GARD:0022536,GARD:0018700,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020640,GARD:0022512,GARD:0018700,,Rare renal disease +GARD:0020640,GARD:0022532,GARD:0018700,,Rare urogenital disease +GARD:0020640,GARD:0022531,GARD:0018700,,Rare genetic disease +GARD:0020640,GARD:0022513,GARD:0018700,,Rare developmental defect during embryogenesis +GARD:0020641,GARD:0022532,GARD:0018700,,Rare urogenital disease +GARD:0020641,GARD:0022531,GARD:0018700,,Rare genetic disease +GARD:0020641,GARD:0022512,GARD:0018700,,Rare renal disease +GARD:0020641,GARD:0022513,GARD:0018700,,Rare developmental defect during embryogenesis +GARD:0020641,GARD:0022536,GARD:0018700,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020642,GARD:0022536,GARD:0018700,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020642,GARD:0022513,GARD:0018700,,Rare developmental defect during embryogenesis +GARD:0020642,GARD:0022532,GARD:0018700,,Rare urogenital disease +GARD:0020642,GARD:0022512,GARD:0018700,,Rare renal disease +GARD:0020642,GARD:0022531,GARD:0018700,,Rare genetic disease +GARD:0020643,GARD:0022521,GARD:0020135,GARD:0016533,Rare endocrine disease +GARD:0020643,GARD:0022514,GARD:0020135,GARD:0010771,Rare gynecologic or obstetric disease +GARD:0020643,GARD:0022529,GARD:0020135,GARD:0010771,Rare infertility +GARD:0020643,GARD:0022529,GARD:0021679,GARD:0010771,Rare infertility +GARD:0020643,GARD:0022529,GARD:0021679,GARD:0016533,Rare infertility +GARD:0020643,GARD:0022531,GARD:0021679,GARD:0016533,Rare genetic disease +GARD:0020643,GARD:0022531,GARD:0020135,GARD:0016533,Rare genetic disease +GARD:0020643,GARD:0022529,GARD:0020135,GARD:0016533,Rare infertility +GARD:0020643,GARD:0022521,GARD:0020135,GARD:0010771,Rare endocrine disease +GARD:0020643,GARD:0022514,GARD:0020135,GARD:0016533,Rare gynecologic or obstetric disease +GARD:0020643,GARD:0022531,GARD:0021679,GARD:0010771,Rare genetic disease +GARD:0020643,GARD:0022531,GARD:0020135,GARD:0010771,Rare genetic disease +GARD:0020644,GARD:0022521,GARD:0020646,,Rare endocrine disease +GARD:0020645,GARD:0022521,GARD:0020142,GARD:0019297,Rare endocrine disease +GARD:0020645,GARD:0022521,GARD:0020142,GARD:0020563,Rare endocrine disease +GARD:0020645,GARD:0022521,GARD:0020142,GARD:0002304,Rare endocrine disease +GARD:0020646,GARD:0022521,GARD:0020142,GARD:0020644,Rare endocrine disease +GARD:0020646,GARD:0022521,GARD:0020142,GARD:0020564,Rare endocrine disease +GARD:0020647,GARD:0022520,GARD:0004507,,Rare ophthalmic disorder +GARD:0020647,GARD:0022524,GARD:0004507,,Rare neurologic disease +GARD:0020647,GARD:0022531,GARD:0004507,,Rare genetic disease +GARD:0020648,GARD:0022531,GARD:0004507,,Rare genetic disease +GARD:0020648,GARD:0022520,GARD:0004507,,Rare ophthalmic disorder +GARD:0020648,GARD:0022524,GARD:0004507,,Rare neurologic disease +GARD:0020649,GARD:0022531,GARD:0004507,,Rare genetic disease +GARD:0020649,GARD:0022520,GARD:0004507,,Rare ophthalmic disorder +GARD:0020649,GARD:0022524,GARD:0004507,,Rare neurologic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0009844,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0021521,Rare endocrine disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0017957,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0013431,Rare genetic disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0005575,Rare genetic disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0005528,Rare genetic disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0009178,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0017648,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0000936,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0009844,Rare genetic disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0000178,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0006464,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0006866,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0010121,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0006464,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0005770,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0009994,Rare genetic disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0006003,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0006866,Rare genetic disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0021521,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0006123,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0007593,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0022367,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0009994,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0021057,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0017648,Rare genetic disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0007593,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0005787,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0006126,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0010407,Rare genetic disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0019685,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0012845,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0017957,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0000178,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0008197,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0006464,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0005575,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0005579,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0009994,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0017817,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0017244,Rare endocrine disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0013431,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0022484,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0021641,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0006126,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0009844,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0006123,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0019685,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0017648,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0010121,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0002775,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0000369,Rare genetic disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0022367,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0006866,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0012845,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0021641,Rare genetic disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0005579,Rare genetic disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0005528,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0000178,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0017575,Rare genetic disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0005575,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0005787,Rare endocrine disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0021521,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0017575,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0021583,Rare genetic disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0013431,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0022367,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0019685,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0000369,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0009178,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0021057,Rare genetic disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0000369,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0006126,Rare genetic disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0005770,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0021057,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0006003,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0005770,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0006003,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0017817,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0017817,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0010121,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0002775,Rare genetic disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0010407,Rare endocrine disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0002775,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0012845,Rare genetic disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0006123,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0000936,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0017244,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0017575,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0000936,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0022484,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0021583,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0008197,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0021583,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0022484,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0021641,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0010407,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0017957,Rare endocrine disease +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0017244,Rare genetic disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0005528,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0005787,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0005579,Rare endocrine disease +GARD:0020650,GARD:0022513,GARD:0019903,GARD:0009178,Rare developmental defect during embryogenesis +GARD:0020650,GARD:0022531,GARD:0018935,GARD:0007593,Rare genetic disease +GARD:0020650,GARD:0022521,GARD:0018935,GARD:0008197,Rare endocrine disease +GARD:0020651,GARD:0022512,GARD:0019227,,Rare renal disease +GARD:0020651,GARD:0022536,GARD:0022536,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020652,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020652,GARD:0022513,GARD:0019862,,Rare developmental defect during embryogenesis +GARD:0020652,GARD:0022506,GARD:0022019,,Rare hepatic disease +GARD:0020652,GARD:0022534,GARD:0019862,,Rare abdominal surgical disease +GARD:0020653,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0020654,GARD:0022524,GARD:0020655,,Rare neurologic disease +GARD:0020655,GARD:0022524,GARD:0019816,GARD:0020565,Rare neurologic disease +GARD:0020655,GARD:0022524,GARD:0019816,GARD:0020654,Rare neurologic disease +GARD:0020656,GARD:0022524,GARD:0019816,GARD:0008570,Rare neurologic disease +GARD:0020656,GARD:0022524,GARD:0019816,GARD:0022494,Rare neurologic disease +GARD:0020656,GARD:0022524,GARD:0019816,GARD:0009484,Rare neurologic disease +GARD:0020657,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0020658,GARD:0022531,GARD:0020635,,Rare genetic disease +GARD:0020658,GARD:0022522,GARD:0020635,,Rare hematologic disease +GARD:0020659,GARD:0022531,GARD:0006114,,Rare genetic disease +GARD:0020659,GARD:0022508,GARD:0006114,,Rare inborn errors of metabolism +GARD:0020660,GARD:0022531,GARD:0006114,,Rare genetic disease +GARD:0020660,GARD:0022508,GARD:0006114,,Rare inborn errors of metabolism +GARD:0020661,GARD:0022508,GARD:0016522,GARD:0010215,Rare inborn errors of metabolism +GARD:0020661,GARD:0022508,GARD:0016522,GARD:0010214,Rare inborn errors of metabolism +GARD:0020661,GARD:0022531,GARD:0016522,GARD:0010214,Rare genetic disease +GARD:0020661,GARD:0022531,GARD:0016522,GARD:0010215,Rare genetic disease +GARD:0020662,GARD:0022511,GARD:0006734,,Rare bone disease +GARD:0020662,GARD:0022513,GARD:0019911,,Rare developmental defect during embryogenesis +GARD:0020662,GARD:0022513,GARD:0006734,,Rare developmental defect during embryogenesis +GARD:0020662,GARD:0022531,GARD:0019911,,Rare genetic disease +GARD:0020662,GARD:0022531,GARD:0006734,,Rare genetic disease +GARD:0020662,GARD:0022511,GARD:0019911,,Rare bone disease +GARD:0020663,GARD:0022524,GARD:0009128,,Rare neurologic disease +GARD:0020663,GARD:0022525,GARD:0009128,,Rare systemic or rheumatologic disease +GARD:0020664,GARD:0022524,GARD:0009128,,Rare neurologic disease +GARD:0020664,GARD:0022525,GARD:0009128,,Rare systemic or rheumatologic disease +GARD:0020665,GARD:0022524,GARD:0020286,GARD:0009981,Rare neurologic disease +GARD:0020665,GARD:0022524,GARD:0020286,GARD:0017439,Rare neurologic disease +GARD:0020665,GARD:0022531,GARD:0020286,GARD:0010572,Rare genetic disease +GARD:0020665,GARD:0022531,GARD:0020286,GARD:0016806,Rare genetic disease +GARD:0020665,GARD:0022531,GARD:0020286,GARD:0009980,Rare genetic disease +GARD:0020665,GARD:0022531,GARD:0020286,GARD:0019063,Rare genetic disease +GARD:0020665,GARD:0022531,GARD:0020286,GARD:0008756,Rare genetic disease +GARD:0020665,GARD:0022524,GARD:0020286,GARD:0019063,Rare neurologic disease +GARD:0020665,GARD:0022531,GARD:0020286,GARD:0017439,Rare genetic disease +GARD:0020665,GARD:0022531,GARD:0020286,GARD:0016558,Rare genetic disease +GARD:0020665,GARD:0022531,GARD:0020286,GARD:0009981,Rare genetic disease +GARD:0020665,GARD:0022524,GARD:0020286,GARD:0000668,Rare neurologic disease +GARD:0020665,GARD:0022531,GARD:0020286,GARD:0004644,Rare genetic disease +GARD:0020665,GARD:0022524,GARD:0020286,GARD:0016558,Rare neurologic disease +GARD:0020665,GARD:0022524,GARD:0020286,GARD:0008756,Rare neurologic disease +GARD:0020665,GARD:0022524,GARD:0020286,GARD:0009980,Rare neurologic disease +GARD:0020665,GARD:0022524,GARD:0020286,GARD:0004644,Rare neurologic disease +GARD:0020665,GARD:0022524,GARD:0020286,GARD:0016806,Rare neurologic disease +GARD:0020665,GARD:0022524,GARD:0020286,GARD:0010572,Rare neurologic disease +GARD:0020665,GARD:0022531,GARD:0020286,GARD:0000668,Rare genetic disease +GARD:0020666,GARD:0022524,GARD:0019413,,Rare neurologic disease +GARD:0020666,GARD:0022531,GARD:0019413,,Rare genetic disease +GARD:0020667,GARD:0022511,GARD:0019200,GARD:0001564,Rare bone disease +GARD:0020667,GARD:0022511,GARD:0019200,GARD:0007299,Rare bone disease +GARD:0020667,GARD:0022513,GARD:0019200,GARD:0001564,Rare developmental defect during embryogenesis +GARD:0020667,GARD:0022531,GARD:0019200,GARD:0001564,Rare genetic disease +GARD:0020667,GARD:0022531,GARD:0019200,GARD:0007299,Rare genetic disease +GARD:0020667,GARD:0022513,GARD:0019200,GARD:0007299,Rare developmental defect during embryogenesis +GARD:0020668,GARD:0022522,GARD:0019869,GARD:0020669,Rare hematologic disease +GARD:0020668,GARD:0022522,GARD:0019869,GARD:0020670,Rare hematologic disease +GARD:0020669,GARD:0022522,GARD:0020668,GARD:0019462,Rare hematologic disease +GARD:0020669,GARD:0022531,GARD:0020318,GARD:0019452,Rare genetic disease +GARD:0020669,GARD:0022531,GARD:0020318,GARD:0019463,Rare genetic disease +GARD:0020669,GARD:0022522,GARD:0020668,GARD:0019463,Rare hematologic disease +GARD:0020669,GARD:0022522,GARD:0020668,GARD:0019452,Rare hematologic disease +GARD:0020669,GARD:0022522,GARD:0020668,GARD:0019464,Rare hematologic disease +GARD:0020669,GARD:0022531,GARD:0020318,GARD:0019462,Rare genetic disease +GARD:0020669,GARD:0022531,GARD:0020318,GARD:0019464,Rare genetic disease +GARD:0020670,GARD:0022522,GARD:0020668,GARD:0008259,Rare hematologic disease +GARD:0020671,GARD:0022522,GARD:0019468,GARD:0020672,Rare hematologic disease +GARD:0020671,GARD:0022522,GARD:0019468,GARD:0020673,Rare hematologic disease +GARD:0020672,GARD:0022522,GARD:0020671,GARD:0018873,Rare hematologic disease +GARD:0020672,GARD:0022522,GARD:0020671,GARD:0020093,Rare hematologic disease +GARD:0020673,GARD:0022522,GARD:0020671,GARD:0020675,Rare hematologic disease +GARD:0020673,GARD:0022522,GARD:0020671,GARD:0018905,Rare hematologic disease +GARD:0020674,GARD:0022531,GARD:0021968,,Rare genetic disease +GARD:0020674,GARD:0022522,GARD:0021968,,Rare hematologic disease +GARD:0020675,GARD:0022522,GARD:0020673,GARD:0018906,Rare hematologic disease +GARD:0020675,GARD:0022522,GARD:0020673,GARD:0000070,Rare hematologic disease +GARD:0020675,GARD:0022522,GARD:0020673,GARD:0008528,Rare hematologic disease +GARD:0020675,GARD:0022522,GARD:0020673,GARD:0002295,Rare hematologic disease +GARD:0020675,GARD:0022522,GARD:0020673,GARD:0010467,Rare hematologic disease +GARD:0020675,GARD:0022522,GARD:0020673,GARD:0021902,Rare hematologic disease +GARD:0020676,GARD:0022522,GARD:0020237,GARD:0020678,Rare hematologic disease +GARD:0020676,GARD:0022522,GARD:0020237,GARD:0020677,Rare hematologic disease +GARD:0020677,GARD:0022531,GARD:0020319,GARD:0009965,Rare genetic disease +GARD:0020677,GARD:0022522,GARD:0020676,GARD:0020515,Rare hematologic disease +GARD:0020677,GARD:0022522,GARD:0020676,GARD:0005195,Rare hematologic disease +GARD:0020677,GARD:0022531,GARD:0020319,GARD:0006558,Rare genetic disease +GARD:0020677,GARD:0022522,GARD:0020676,GARD:0009965,Rare hematologic disease +GARD:0020677,GARD:0022531,GARD:0020319,GARD:0005195,Rare genetic disease +GARD:0020677,GARD:0022531,GARD:0020319,GARD:0020515,Rare genetic disease +GARD:0020677,GARD:0022522,GARD:0020676,GARD:0006558,Rare hematologic disease +GARD:0020678,GARD:0022522,GARD:0020676,GARD:0019104,Rare hematologic disease +GARD:0020678,GARD:0022522,GARD:0020676,GARD:0006217,Rare hematologic disease +GARD:0020678,GARD:0022522,GARD:0020676,GARD:0002650,Rare hematologic disease +GARD:0020678,GARD:0022522,GARD:0020676,GARD:0018799,Rare hematologic disease +GARD:0020678,GARD:0022522,GARD:0020676,GARD:0009820,Rare hematologic disease +GARD:0020678,GARD:0022522,GARD:0020676,GARD:0018838,Rare hematologic disease +GARD:0020678,GARD:0022522,GARD:0020676,GARD:0005824,Rare hematologic disease +GARD:0020679,GARD:0022522,GARD:0020237,GARD:0020680,Rare hematologic disease +GARD:0020679,GARD:0022522,GARD:0020237,GARD:0016659,Rare hematologic disease +GARD:0020679,GARD:0022522,GARD:0020237,GARD:0020681,Rare hematologic disease +GARD:0020680,GARD:0022522,GARD:0020679,GARD:0021487,Rare hematologic disease +GARD:0020680,GARD:0022531,GARD:0020319,GARD:0016688,Rare genetic disease +GARD:0020680,GARD:0022522,GARD:0020679,GARD:0016688,Rare hematologic disease +GARD:0020680,GARD:0022531,GARD:0020319,GARD:0021487,Rare genetic disease +GARD:0020681,GARD:0022522,GARD:0020679,GARD:0006594,Rare hematologic disease +GARD:0020682,GARD:0022531,GARD:0020030,GARD:0021435,Rare genetic disease +GARD:0020682,GARD:0022531,GARD:0020030,GARD:0019467,Rare genetic disease +GARD:0020682,GARD:0022531,GARD:0020030,GARD:0009843,Rare genetic disease +GARD:0020683,GARD:0022531,GARD:0022531,GARD:0020685,Rare genetic disease +GARD:0020683,GARD:0022531,GARD:0022531,GARD:0020684,Rare genetic disease +GARD:0020684,GARD:0022531,GARD:0020683,GARD:0005784,Rare genetic disease +GARD:0020684,GARD:0022531,GARD:0020683,GARD:0004381,Rare genetic disease +GARD:0020684,GARD:0022531,GARD:0020683,GARD:0010037,Rare genetic disease +GARD:0020684,GARD:0022531,GARD:0020683,GARD:0020148,Rare genetic disease +GARD:0020685,GARD:0022531,GARD:0020683,GARD:0017329,Rare genetic disease +GARD:0020685,GARD:0022531,GARD:0020683,GARD:0000731,Rare genetic disease +GARD:0020685,GARD:0022531,GARD:0020683,GARD:0013101,Rare genetic disease +GARD:0020685,GARD:0022531,GARD:0020683,GARD:0006148,Rare genetic disease +GARD:0020685,GARD:0022531,GARD:0020683,GARD:0016967,Rare genetic disease +GARD:0020685,GARD:0022531,GARD:0020683,GARD:0022194,Rare genetic disease +GARD:0020686,GARD:0022508,GARD:0020760,,Rare inborn errors of metabolism +GARD:0020686,GARD:0022531,GARD:0020760,,Rare genetic disease +GARD:0020686,GARD:0022531,GARD:0011972,,Rare genetic disease +GARD:0020686,GARD:0022520,GARD:0011972,,Rare ophthalmic disorder +GARD:0020686,GARD:0022508,GARD:0011972,,Rare inborn errors of metabolism +GARD:0020687,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0020687,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0020687,GARD:0022524,GARD:0020088,,Rare neurologic disease +GARD:0020687,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0020687,GARD:0022531,GARD:0020088,,Rare genetic disease +GARD:0020687,GARD:0022513,GARD:0019888,,Rare developmental defect during embryogenesis +GARD:0020687,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0020687,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0020687,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0020687,GARD:0022531,GARD:0019888,,Rare genetic disease +GARD:0020687,GARD:0022520,GARD:0019888,,Rare ophthalmic disorder +GARD:0020688,GARD:0022531,GARD:0019425,,Rare genetic disease +GARD:0020688,GARD:0022513,GARD:0019425,,Rare developmental defect during embryogenesis +GARD:0020689,GARD:0022513,GARD:0019424,,Rare developmental defect during embryogenesis +GARD:0020689,GARD:0022531,GARD:0019424,,Rare genetic disease +GARD:0020690,GARD:0022513,GARD:0020822,,Rare developmental defect during embryogenesis +GARD:0020690,GARD:0022531,GARD:0020822,,Rare genetic disease +GARD:0020691,GARD:0022513,GARD:0020810,,Rare developmental defect during embryogenesis +GARD:0020691,GARD:0022531,GARD:0020810,,Rare genetic disease +GARD:0020692,GARD:0022531,GARD:0020827,,Rare genetic disease +GARD:0020692,GARD:0022513,GARD:0020827,,Rare developmental defect during embryogenesis +GARD:0020693,GARD:0022513,GARD:0020812,,Rare developmental defect during embryogenesis +GARD:0020693,GARD:0022531,GARD:0020812,,Rare genetic disease +GARD:0020694,GARD:0021079,GARD:0021460,,Rare systemic or rheumatological disease of childhood +GARD:0020694,GARD:0022525,GARD:0021455,,Rare systemic or rheumatologic disease +GARD:0020694,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0020695,GARD:0022525,GARD:0021457,,Rare systemic or rheumatologic disease +GARD:0020695,GARD:0021079,GARD:0021461,,Rare systemic or rheumatological disease of childhood +GARD:0020696,GARD:0022525,GARD:0020256,GARD:0007051,Rare systemic or rheumatologic disease +GARD:0020696,GARD:0021079,GARD:0021082,GARD:0007051,Rare systemic or rheumatological disease of childhood +GARD:0020697,GARD:0022527,GARD:0021863,,Rare circulatory system disease +GARD:0020697,GARD:0022525,GARD:0021863,,Rare systemic or rheumatologic disease +GARD:0020697,GARD:0021079,GARD:0021863,,Rare systemic or rheumatological disease of childhood +GARD:0020698,GARD:0021079,GARD:0021081,,Rare systemic or rheumatological disease of childhood +GARD:0020698,GARD:0022525,GARD:0018844,,Rare systemic or rheumatologic disease +GARD:0020698,GARD:0022527,GARD:0018844,,Rare circulatory system disease +GARD:0020699,GARD:0021079,GARD:0021082,,Rare systemic or rheumatological disease of childhood +GARD:0020699,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0020700,GARD:0022531,GARD:0012459,,Rare genetic disease +GARD:0020700,GARD:0022522,GARD:0012459,,Rare hematologic disease +GARD:0020700,GARD:0022536,GARD:0012459,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0002313,Rare teratologic disease +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0002308,Rare teratologic disease +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0018827,Rare teratologic disease +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0002313,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0021991,Rare teratologic disease +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0021594,Rare teratologic disease +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0002304,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0021594,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0002304,Rare disorder due to toxic effects +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0018827,Rare disorder due to toxic effects +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0018827,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0003573,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0008580,Rare disorder due to toxic effects +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0002294,Rare disorder due to toxic effects +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0020946,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0018765,Rare teratologic disease +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0018765,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0002313,Rare disorder due to toxic effects +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0002294,Rare teratologic disease +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0002303,Rare teratologic disease +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0003573,Rare teratologic disease +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0001413,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0001413,Rare disorder due to toxic effects +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0021991,Rare disorder due to toxic effects +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0008580,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0000599,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0003573,Rare disorder due to toxic effects +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0008580,Rare teratologic disease +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0001859,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0001859,Rare teratologic disease +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0000599,Rare disorder due to toxic effects +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0018751,Rare teratologic disease +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0002308,Rare disorder due to toxic effects +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0003575,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0003575,Rare teratologic disease +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0021594,Rare disorder due to toxic effects +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0018751,Rare disorder due to toxic effects +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0018751,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0003575,Rare disorder due to toxic effects +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0002308,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0021991,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0000599,Rare teratologic disease +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0002303,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0002304,Rare teratologic disease +GARD:0020701,GARD:0022513,GARD:0022505,GARD:0002294,Rare developmental defect during embryogenesis +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0018765,Rare disorder due to toxic effects +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0002303,Rare disorder due to toxic effects +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0001413,Rare teratologic disease +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0001859,Rare disorder due to toxic effects +GARD:0020701,GARD:0022505,GARD:0022505,GARD:0020946,Rare teratologic disease +GARD:0020701,GARD:0022533,GARD:0022533,GARD:0020946,Rare disorder due to toxic effects +GARD:0020702,GARD:0022505,GARD:0022505,GARD:0002856,Rare teratologic disease +GARD:0020702,GARD:0022513,GARD:0022505,GARD:0002856,Rare developmental defect during embryogenesis +GARD:0020702,GARD:0022513,GARD:0022505,GARD:0016580,Rare developmental defect during embryogenesis +GARD:0020702,GARD:0022505,GARD:0022505,GARD:0016580,Rare teratologic disease +GARD:0020702,GARD:0022513,GARD:0022505,GARD:0003413,Rare developmental defect during embryogenesis +GARD:0020702,GARD:0022505,GARD:0022505,GARD:0003413,Rare teratologic disease +GARD:0020703,GARD:0022535,GARD:0019406,GARD:0020728,Rare neoplastic disease +GARD:0020703,GARD:0022524,GARD:0019406,GARD:0020726,Rare neurologic disease +GARD:0020703,GARD:0022535,GARD:0019406,GARD:0020726,Rare neoplastic disease +GARD:0020703,GARD:0022524,GARD:0019406,GARD:0020724,Rare neurologic disease +GARD:0020703,GARD:0022535,GARD:0019406,GARD:0020716,Rare neoplastic disease +GARD:0020703,GARD:0022524,GARD:0019406,GARD:0006513,Rare neurologic disease +GARD:0020703,GARD:0022535,GARD:0019406,GARD:0020722,Rare neoplastic disease +GARD:0020703,GARD:0022535,GARD:0019406,GARD:0006513,Rare neoplastic disease +GARD:0020703,GARD:0022524,GARD:0019406,GARD:0020728,Rare neurologic disease +GARD:0020703,GARD:0022535,GARD:0019406,GARD:0020724,Rare neoplastic disease +GARD:0020703,GARD:0022524,GARD:0019406,GARD:0020716,Rare neurologic disease +GARD:0020703,GARD:0022524,GARD:0019406,GARD:0020722,Rare neurologic disease +GARD:0020704,GARD:0022524,GARD:0012928,GARD:0013075,Rare neurologic disease +GARD:0020704,GARD:0022524,GARD:0012928,GARD:0005860,Rare neurologic disease +GARD:0020704,GARD:0022535,GARD:0012928,GARD:0006514,Rare neoplastic disease +GARD:0020704,GARD:0022535,GARD:0012928,GARD:0005860,Rare neoplastic disease +GARD:0020704,GARD:0022524,GARD:0012928,GARD:0006514,Rare neurologic disease +GARD:0020704,GARD:0022524,GARD:0012928,GARD:0002491,Rare neurologic disease +GARD:0020704,GARD:0022535,GARD:0012928,GARD:0013075,Rare neoplastic disease +GARD:0020704,GARD:0022535,GARD:0012928,GARD:0002491,Rare neoplastic disease +GARD:0020705,GARD:0022535,GARD:0002491,,Rare neoplastic disease +GARD:0020705,GARD:0022524,GARD:0002491,,Rare neurologic disease +GARD:0020706,GARD:0022524,GARD:0012928,GARD:0009808,Rare neurologic disease +GARD:0020706,GARD:0022524,GARD:0012928,GARD:0020711,Rare neurologic disease +GARD:0020706,GARD:0022524,GARD:0012928,GARD:0010631,Rare neurologic disease +GARD:0020706,GARD:0022535,GARD:0012928,GARD:0009808,Rare neoplastic disease +GARD:0020706,GARD:0022535,GARD:0012928,GARD:0010632,Rare neoplastic disease +GARD:0020706,GARD:0022535,GARD:0012928,GARD:0005907,Rare neoplastic disease +GARD:0020706,GARD:0022535,GARD:0012928,GARD:0020711,Rare neoplastic disease +GARD:0020706,GARD:0022524,GARD:0012928,GARD:0005907,Rare neurologic disease +GARD:0020706,GARD:0022535,GARD:0012928,GARD:0010631,Rare neoplastic disease +GARD:0020706,GARD:0022524,GARD:0012928,GARD:0010632,Rare neurologic disease +GARD:0020707,GARD:0022524,GARD:0005907,,Rare neurologic disease +GARD:0020707,GARD:0022535,GARD:0005907,,Rare neoplastic disease +GARD:0020708,GARD:0022535,GARD:0005907,,Rare neoplastic disease +GARD:0020708,GARD:0022524,GARD:0005907,,Rare neurologic disease +GARD:0020709,GARD:0022535,GARD:0005907,,Rare neoplastic disease +GARD:0020709,GARD:0022524,GARD:0005907,,Rare neurologic disease +GARD:0020710,GARD:0022524,GARD:0009808,,Rare neurologic disease +GARD:0020710,GARD:0022535,GARD:0009808,,Rare neoplastic disease +GARD:0020711,GARD:0022535,GARD:0020706,,Rare neoplastic disease +GARD:0020711,GARD:0022524,GARD:0020706,,Rare neurologic disease +GARD:0020712,GARD:0022535,GARD:0006513,GARD:0010637,Rare neoplastic disease +GARD:0020712,GARD:0022535,GARD:0006513,GARD:0009769,Rare neoplastic disease +GARD:0020712,GARD:0022524,GARD:0006513,GARD:0010637,Rare neurologic disease +GARD:0020712,GARD:0022524,GARD:0006513,GARD:0009769,Rare neurologic disease +GARD:0020713,GARD:0022524,GARD:0006513,GARD:0020714,Rare neurologic disease +GARD:0020713,GARD:0022524,GARD:0006513,GARD:0020715,Rare neurologic disease +GARD:0020713,GARD:0022535,GARD:0006513,GARD:0020715,Rare neoplastic disease +GARD:0020713,GARD:0022535,GARD:0006513,GARD:0010635,Rare neoplastic disease +GARD:0020713,GARD:0022535,GARD:0006513,GARD:0020714,Rare neoplastic disease +GARD:0020713,GARD:0022524,GARD:0006513,GARD:0010635,Rare neurologic disease +GARD:0020714,GARD:0022535,GARD:0020713,,Rare neoplastic disease +GARD:0020714,GARD:0022524,GARD:0020713,,Rare neurologic disease +GARD:0020715,GARD:0022524,GARD:0020713,,Rare neurologic disease +GARD:0020715,GARD:0022535,GARD:0020713,,Rare neoplastic disease +GARD:0020716,GARD:0022535,GARD:0020703,GARD:0007005,Rare neoplastic disease +GARD:0020716,GARD:0022524,GARD:0020703,GARD:0020718,Rare neurologic disease +GARD:0020716,GARD:0022535,GARD:0020703,GARD:0020718,Rare neoplastic disease +GARD:0020716,GARD:0022524,GARD:0020703,GARD:0007005,Rare neurologic disease +GARD:0020716,GARD:0022524,GARD:0020703,GARD:0016926,Rare neurologic disease +GARD:0020716,GARD:0022535,GARD:0020703,GARD:0016926,Rare neoplastic disease +GARD:0020717,GARD:0022535,GARD:0007005,,Rare neoplastic disease +GARD:0020717,GARD:0022524,GARD:0007005,,Rare neurologic disease +GARD:0020718,GARD:0022524,GARD:0020716,GARD:0020721,Rare neurologic disease +GARD:0020718,GARD:0022535,GARD:0020716,GARD:0007185,Rare neoplastic disease +GARD:0020718,GARD:0022524,GARD:0020716,GARD:0007185,Rare neurologic disease +GARD:0020718,GARD:0022535,GARD:0020716,GARD:0020720,Rare neoplastic disease +GARD:0020718,GARD:0022535,GARD:0020716,GARD:0020721,Rare neoplastic disease +GARD:0020718,GARD:0022524,GARD:0020716,GARD:0002197,Rare neurologic disease +GARD:0020718,GARD:0022535,GARD:0020716,GARD:0002197,Rare neoplastic disease +GARD:0020718,GARD:0022524,GARD:0020716,GARD:0020719,Rare neurologic disease +GARD:0020718,GARD:0022535,GARD:0020716,GARD:0020719,Rare neoplastic disease +GARD:0020718,GARD:0022524,GARD:0020716,GARD:0020720,Rare neurologic disease +GARD:0020719,GARD:0022535,GARD:0020718,,Rare neoplastic disease +GARD:0020719,GARD:0022524,GARD:0020718,,Rare neurologic disease +GARD:0020720,GARD:0022535,GARD:0020718,,Rare neoplastic disease +GARD:0020720,GARD:0022524,GARD:0020718,,Rare neurologic disease +GARD:0020721,GARD:0022535,GARD:0020718,,Rare neoplastic disease +GARD:0020721,GARD:0022524,GARD:0020718,,Rare neurologic disease +GARD:0020722,GARD:0022535,GARD:0020703,GARD:0004214,Rare neoplastic disease +GARD:0020722,GARD:0022524,GARD:0020703,GARD:0008238,Rare neurologic disease +GARD:0020722,GARD:0022535,GARD:0020703,GARD:0020723,Rare neoplastic disease +GARD:0020722,GARD:0022535,GARD:0020703,GARD:0008238,Rare neoplastic disease +GARD:0020722,GARD:0022524,GARD:0020703,GARD:0020723,Rare neurologic disease +GARD:0020722,GARD:0022524,GARD:0020703,GARD:0004214,Rare neurologic disease +GARD:0020723,GARD:0022535,GARD:0020722,,Rare neoplastic disease +GARD:0020723,GARD:0022524,GARD:0020722,,Rare neurologic disease +GARD:0020724,GARD:0022524,GARD:0020703,GARD:0010644,Rare neurologic disease +GARD:0020724,GARD:0022524,GARD:0020703,GARD:0009369,Rare neurologic disease +GARD:0020724,GARD:0022524,GARD:0020703,GARD:0020725,Rare neurologic disease +GARD:0020724,GARD:0022535,GARD:0020703,GARD:0020725,Rare neoplastic disease +GARD:0020724,GARD:0022535,GARD:0020703,GARD:0008207,Rare neoplastic disease +GARD:0020724,GARD:0022535,GARD:0020703,GARD:0010644,Rare neoplastic disease +GARD:0020724,GARD:0022535,GARD:0020703,GARD:0009369,Rare neoplastic disease +GARD:0020724,GARD:0022524,GARD:0020703,GARD:0008207,Rare neurologic disease +GARD:0020725,GARD:0022535,GARD:0020724,,Rare neoplastic disease +GARD:0020725,GARD:0022524,GARD:0020724,,Rare neurologic disease +GARD:0020726,GARD:0022535,GARD:0020703,GARD:0020727,Rare neoplastic disease +GARD:0020726,GARD:0022535,GARD:0020703,GARD:0010641,Rare neoplastic disease +GARD:0020726,GARD:0022524,GARD:0020703,GARD:0020727,Rare neurologic disease +GARD:0020726,GARD:0022535,GARD:0020703,GARD:0010642,Rare neoplastic disease +GARD:0020726,GARD:0022524,GARD:0020703,GARD:0010641,Rare neurologic disease +GARD:0020726,GARD:0022524,GARD:0020703,GARD:0010642,Rare neurologic disease +GARD:0020727,GARD:0022535,GARD:0020726,,Rare neoplastic disease +GARD:0020727,GARD:0022524,GARD:0020726,,Rare neurologic disease +GARD:0020728,GARD:0022535,GARD:0020703,GARD:0013593,Rare neoplastic disease +GARD:0020728,GARD:0022524,GARD:0020703,GARD:0020729,Rare neurologic disease +GARD:0020728,GARD:0022535,GARD:0020703,GARD:0006901,Rare neoplastic disease +GARD:0020728,GARD:0022535,GARD:0020703,GARD:0010639,Rare neoplastic disease +GARD:0020728,GARD:0022524,GARD:0020703,GARD:0010640,Rare neurologic disease +GARD:0020728,GARD:0022524,GARD:0020703,GARD:0010638,Rare neurologic disease +GARD:0020728,GARD:0022524,GARD:0020703,GARD:0002430,Rare neurologic disease +GARD:0020728,GARD:0022535,GARD:0020703,GARD:0020731,Rare neoplastic disease +GARD:0020728,GARD:0022524,GARD:0020703,GARD:0020730,Rare neurologic disease +GARD:0020728,GARD:0022524,GARD:0020703,GARD:0010639,Rare neurologic disease +GARD:0020728,GARD:0022535,GARD:0020703,GARD:0010638,Rare neoplastic disease +GARD:0020728,GARD:0022524,GARD:0020703,GARD:0006901,Rare neurologic disease +GARD:0020728,GARD:0022535,GARD:0020703,GARD:0002430,Rare neoplastic disease +GARD:0020728,GARD:0022535,GARD:0020703,GARD:0010640,Rare neoplastic disease +GARD:0020728,GARD:0022535,GARD:0020703,GARD:0020729,Rare neoplastic disease +GARD:0020728,GARD:0022524,GARD:0020703,GARD:0013593,Rare neurologic disease +GARD:0020728,GARD:0022535,GARD:0020703,GARD:0020730,Rare neoplastic disease +GARD:0020728,GARD:0022524,GARD:0020703,GARD:0020731,Rare neurologic disease +GARD:0020729,GARD:0022524,GARD:0020728,,Rare neurologic disease +GARD:0020729,GARD:0022535,GARD:0020728,,Rare neoplastic disease +GARD:0020730,GARD:0022535,GARD:0020728,,Rare neoplastic disease +GARD:0020730,GARD:0022524,GARD:0020728,,Rare neurologic disease +GARD:0020731,GARD:0022524,GARD:0020728,,Rare neurologic disease +GARD:0020731,GARD:0022535,GARD:0020728,,Rare neoplastic disease +GARD:0020732,GARD:0022535,GARD:0019406,GARD:0020736,Rare neoplastic disease +GARD:0020732,GARD:0022536,GARD:0009325,GARD:0018836,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020732,GARD:0022524,GARD:0019406,GARD:0020734,Rare neurologic disease +GARD:0020732,GARD:0022524,GARD:0019406,GARD:0018836,Rare neurologic disease +GARD:0020732,GARD:0022535,GARD:0009325,GARD:0020736,Rare neoplastic disease +GARD:0020732,GARD:0022535,GARD:0009325,GARD:0020734,Rare neoplastic disease +GARD:0020732,GARD:0022535,GARD:0009325,GARD:0018836,Rare neoplastic disease +GARD:0020732,GARD:0022536,GARD:0009325,GARD:0020736,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020732,GARD:0022535,GARD:0019406,GARD:0020733,Rare neoplastic disease +GARD:0020732,GARD:0022536,GARD:0009325,GARD:0020733,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020732,GARD:0022535,GARD:0009325,GARD:0020733,Rare neoplastic disease +GARD:0020732,GARD:0022535,GARD:0009325,GARD:0020735,Rare neoplastic disease +GARD:0020732,GARD:0022524,GARD:0019406,GARD:0020735,Rare neurologic disease +GARD:0020732,GARD:0022524,GARD:0019406,GARD:0019162,Rare neurologic disease +GARD:0020732,GARD:0022535,GARD:0009325,GARD:0019162,Rare neoplastic disease +GARD:0020732,GARD:0022524,GARD:0019406,GARD:0020736,Rare neurologic disease +GARD:0020732,GARD:0022524,GARD:0019406,GARD:0020733,Rare neurologic disease +GARD:0020732,GARD:0022536,GARD:0009325,GARD:0020734,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020732,GARD:0022536,GARD:0009325,GARD:0020735,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020732,GARD:0022535,GARD:0019406,GARD:0020734,Rare neoplastic disease +GARD:0020732,GARD:0022536,GARD:0009325,GARD:0019162,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020732,GARD:0022535,GARD:0019406,GARD:0018836,Rare neoplastic disease +GARD:0020732,GARD:0022535,GARD:0019406,GARD:0019162,Rare neoplastic disease +GARD:0020732,GARD:0022535,GARD:0019406,GARD:0020735,Rare neoplastic disease +GARD:0020733,GARD:0022536,GARD:0020732,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020733,GARD:0022536,GARD:0000348,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020733,GARD:0022535,GARD:0020732,,Rare neoplastic disease +GARD:0020733,GARD:0022535,GARD:0000348,,Rare neoplastic disease +GARD:0020733,GARD:0022524,GARD:0020732,,Rare neurologic disease +GARD:0020734,GARD:0022524,GARD:0020732,,Rare neurologic disease +GARD:0020734,GARD:0022536,GARD:0020732,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020734,GARD:0022535,GARD:0020732,,Rare neoplastic disease +GARD:0020735,GARD:0022536,GARD:0018711,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020735,GARD:0022524,GARD:0020732,,Rare neurologic disease +GARD:0020735,GARD:0022535,GARD:0018711,,Rare neoplastic disease +GARD:0020735,GARD:0022535,GARD:0020732,,Rare neoplastic disease +GARD:0020735,GARD:0022536,GARD:0020732,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020736,GARD:0022535,GARD:0020732,,Rare neoplastic disease +GARD:0020736,GARD:0022524,GARD:0020732,,Rare neurologic disease +GARD:0020736,GARD:0022535,GARD:0020202,,Rare neoplastic disease +GARD:0020736,GARD:0022536,GARD:0020202,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020736,GARD:0022536,GARD:0020732,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020737,GARD:0022524,GARD:0019406,GARD:0017260,Rare neurologic disease +GARD:0020737,GARD:0022535,GARD:0019406,GARD:0020738,Rare neoplastic disease +GARD:0020737,GARD:0022524,GARD:0019406,GARD:0007015,Rare neurologic disease +GARD:0020737,GARD:0022535,GARD:0019406,GARD:0007015,Rare neoplastic disease +GARD:0020737,GARD:0022535,GARD:0019406,GARD:0017260,Rare neoplastic disease +GARD:0020737,GARD:0022524,GARD:0019406,GARD:0020738,Rare neurologic disease +GARD:0020738,GARD:0022524,GARD:0020737,GARD:0020740,Rare neurologic disease +GARD:0020738,GARD:0022524,GARD:0020737,GARD:0020739,Rare neurologic disease +GARD:0020738,GARD:0022535,GARD:0020737,GARD:0012016,Rare neoplastic disease +GARD:0020738,GARD:0022524,GARD:0020737,GARD:0012016,Rare neurologic disease +GARD:0020738,GARD:0022535,GARD:0020737,GARD:0020739,Rare neoplastic disease +GARD:0020738,GARD:0022535,GARD:0020737,GARD:0020740,Rare neoplastic disease +GARD:0020739,GARD:0022535,GARD:0020738,,Rare neoplastic disease +GARD:0020739,GARD:0022524,GARD:0020738,,Rare neurologic disease +GARD:0020740,GARD:0022524,GARD:0020738,,Rare neurologic disease +GARD:0020740,GARD:0022535,GARD:0020738,,Rare neoplastic disease +GARD:0020741,GARD:0022535,GARD:0010872,,Rare neoplastic disease +GARD:0020741,GARD:0022524,GARD:0010872,,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0007830,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0017217,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0007193,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0005862,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0004768,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0007855,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0017209,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0016912,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0007166,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0007186,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0008468,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0021850,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0007866,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0007593,Rare neurologic disease +GARD:0020742,GARD:0022524,GARD:0022524,GARD:0006902,Rare neurologic disease +GARD:0020743,GARD:0022535,GARD:0010872,,Rare neoplastic disease +GARD:0020743,GARD:0022524,GARD:0010872,,Rare neurologic disease +GARD:0020744,GARD:0022510,GARD:0012344,GARD:0012675,Rare skin disease +GARD:0020744,GARD:0022510,GARD:0012344,GARD:0003195,Rare skin disease +GARD:0020744,GARD:0022510,GARD:0012344,GARD:0011898,Rare skin disease +GARD:0020744,GARD:0022510,GARD:0012344,GARD:0010816,Rare skin disease +GARD:0020744,GARD:0022510,GARD:0012344,GARD:0010886,Rare skin disease +GARD:0020744,GARD:0022510,GARD:0012344,GARD:0012674,Rare skin disease +GARD:0020744,GARD:0022510,GARD:0012344,GARD:0003247,Rare skin disease +GARD:0020744,GARD:0022510,GARD:0012344,GARD:0012676,Rare skin disease +GARD:0020744,GARD:0022510,GARD:0012344,GARD:0012677,Rare skin disease +GARD:0020744,GARD:0022510,GARD:0012344,GARD:0012673,Rare skin disease +GARD:0020744,GARD:0022510,GARD:0012344,GARD:0018808,Rare skin disease +GARD:0020745,GARD:0022510,GARD:0012344,GARD:0019037,Rare skin disease +GARD:0020746,GARD:0022520,GARD:0000943,,Rare ophthalmic disorder +GARD:0020746,GARD:0022524,GARD:0000943,,Rare neurologic disease +GARD:0020746,GARD:0022509,GARD:0000943,,Rare infectious disease +GARD:0020747,GARD:0022524,GARD:0000943,,Rare neurologic disease +GARD:0020747,GARD:0022520,GARD:0000943,,Rare ophthalmic disorder +GARD:0020747,GARD:0022509,GARD:0000943,,Rare infectious disease +GARD:0020748,GARD:0022535,GARD:0019407,GARD:0006498,Rare neoplastic disease +GARD:0020748,GARD:0022514,GARD:0019407,GARD:0006498,Rare gynecologic or obstetric disease +GARD:0020748,GARD:0022535,GARD:0019407,GARD:0010263,Rare neoplastic disease +GARD:0020748,GARD:0022514,GARD:0019407,GARD:0010263,Rare gynecologic or obstetric disease +GARD:0020749,GARD:0022514,GARD:0010263,,Rare gynecologic or obstetric disease +GARD:0020749,GARD:0022535,GARD:0010263,,Rare neoplastic disease +GARD:0020750,GARD:0022535,GARD:0006498,,Rare neoplastic disease +GARD:0020750,GARD:0022514,GARD:0006498,,Rare gynecologic or obstetric disease +GARD:0020751,GARD:0022531,GARD:0021873,,Rare genetic disease +GARD:0020752,GARD:0022531,GARD:0018972,GARD:0017771,Rare genetic disease +GARD:0020752,GARD:0022531,GARD:0018972,GARD:0007514,Rare genetic disease +GARD:0020752,GARD:0022508,GARD:0018972,GARD:0007513,Rare inborn errors of metabolism +GARD:0020752,GARD:0022508,GARD:0018972,GARD:0017771,Rare inborn errors of metabolism +GARD:0020752,GARD:0022508,GARD:0018972,GARD:0007514,Rare inborn errors of metabolism +GARD:0020752,GARD:0022531,GARD:0018972,GARD:0007513,Rare genetic disease +GARD:0020753,GARD:0022508,GARD:0018972,GARD:0018035,Rare inborn errors of metabolism +GARD:0020753,GARD:0022508,GARD:0018972,GARD:0013264,Rare inborn errors of metabolism +GARD:0020753,GARD:0022531,GARD:0018972,GARD:0013264,Rare genetic disease +GARD:0020753,GARD:0022531,GARD:0018972,GARD:0006476,Rare genetic disease +GARD:0020753,GARD:0022531,GARD:0018972,GARD:0018035,Rare genetic disease +GARD:0020753,GARD:0022508,GARD:0018972,GARD:0006476,Rare inborn errors of metabolism +GARD:0020753,GARD:0022508,GARD:0018972,GARD:0000617,Rare inborn errors of metabolism +GARD:0020753,GARD:0022531,GARD:0018972,GARD:0000617,Rare genetic disease +GARD:0020754,GARD:0022508,GARD:0020546,GARD:0020756,Rare inborn errors of metabolism +GARD:0020754,GARD:0022531,GARD:0020546,GARD:0020755,Rare genetic disease +GARD:0020754,GARD:0022531,GARD:0020546,GARD:0020756,Rare genetic disease +GARD:0020754,GARD:0022508,GARD:0020546,GARD:0020755,Rare inborn errors of metabolism +GARD:0020755,GARD:0022508,GARD:0020754,GARD:0017503,Rare inborn errors of metabolism +GARD:0020755,GARD:0022508,GARD:0020754,GARD:0016576,Rare inborn errors of metabolism +GARD:0020755,GARD:0022531,GARD:0020754,GARD:0006817,Rare genetic disease +GARD:0020755,GARD:0022508,GARD:0020754,GARD:0007343,Rare inborn errors of metabolism +GARD:0020755,GARD:0022531,GARD:0020754,GARD:0007343,Rare genetic disease +GARD:0020755,GARD:0022508,GARD:0020754,GARD:0016479,Rare inborn errors of metabolism +GARD:0020755,GARD:0022531,GARD:0020754,GARD:0016576,Rare genetic disease +GARD:0020755,GARD:0022531,GARD:0020754,GARD:0016479,Rare genetic disease +GARD:0020755,GARD:0022531,GARD:0020754,GARD:0017503,Rare genetic disease +GARD:0020755,GARD:0022508,GARD:0020754,GARD:0006817,Rare inborn errors of metabolism +GARD:0020756,GARD:0022531,GARD:0020754,GARD:0008476,Rare genetic disease +GARD:0020756,GARD:0022508,GARD:0020754,GARD:0004003,Rare inborn errors of metabolism +GARD:0020756,GARD:0022531,GARD:0020754,GARD:0000262,Rare genetic disease +GARD:0020756,GARD:0022531,GARD:0020754,GARD:0022486,Rare genetic disease +GARD:0020756,GARD:0022531,GARD:0020754,GARD:0007144,Rare genetic disease +GARD:0020756,GARD:0022508,GARD:0020754,GARD:0021442,Rare inborn errors of metabolism +GARD:0020756,GARD:0022531,GARD:0020754,GARD:0021634,Rare genetic disease +GARD:0020756,GARD:0022508,GARD:0020754,GARD:0018719,Rare inborn errors of metabolism +GARD:0020756,GARD:0022508,GARD:0020754,GARD:0007009,Rare inborn errors of metabolism +GARD:0020756,GARD:0022531,GARD:0020754,GARD:0016792,Rare genetic disease +GARD:0020756,GARD:0022531,GARD:0020754,GARD:0020757,Rare genetic disease +GARD:0020756,GARD:0022508,GARD:0020754,GARD:0022486,Rare inborn errors of metabolism +GARD:0020756,GARD:0022531,GARD:0020754,GARD:0004003,Rare genetic disease +GARD:0020756,GARD:0022508,GARD:0020754,GARD:0008476,Rare inborn errors of metabolism +GARD:0020756,GARD:0022531,GARD:0020754,GARD:0018719,Rare genetic disease +GARD:0020756,GARD:0022531,GARD:0020754,GARD:0007009,Rare genetic disease +GARD:0020756,GARD:0022531,GARD:0020754,GARD:0006870,Rare genetic disease +GARD:0020756,GARD:0022531,GARD:0020754,GARD:0020767,Rare genetic disease +GARD:0020756,GARD:0022508,GARD:0020754,GARD:0020757,Rare inborn errors of metabolism +GARD:0020756,GARD:0022531,GARD:0020754,GARD:0021442,Rare genetic disease +GARD:0020756,GARD:0022508,GARD:0020754,GARD:0021634,Rare inborn errors of metabolism +GARD:0020756,GARD:0022508,GARD:0020754,GARD:0007144,Rare inborn errors of metabolism +GARD:0020756,GARD:0022508,GARD:0020754,GARD:0000262,Rare inborn errors of metabolism +GARD:0020756,GARD:0022508,GARD:0020754,GARD:0020767,Rare inborn errors of metabolism +GARD:0020756,GARD:0022508,GARD:0020754,GARD:0006870,Rare inborn errors of metabolism +GARD:0020756,GARD:0022508,GARD:0020754,GARD:0016792,Rare inborn errors of metabolism +GARD:0020756,GARD:0022508,GARD:0020754,GARD:0003671,Rare inborn errors of metabolism +GARD:0020756,GARD:0022531,GARD:0020754,GARD:0003671,Rare genetic disease +GARD:0020757,GARD:0022508,GARD:0020756,GARD:0020768,Rare inborn errors of metabolism +GARD:0020757,GARD:0022531,GARD:0020756,GARD:0020768,Rare genetic disease +GARD:0020757,GARD:0022531,GARD:0020756,GARD:0017226,Rare genetic disease +GARD:0020757,GARD:0022531,GARD:0020756,GARD:0017227,Rare genetic disease +GARD:0020757,GARD:0022508,GARD:0020756,GARD:0017227,Rare inborn errors of metabolism +GARD:0020757,GARD:0022508,GARD:0020756,GARD:0017226,Rare inborn errors of metabolism +GARD:0020757,GARD:0022531,GARD:0020756,GARD:0003881,Rare genetic disease +GARD:0020757,GARD:0022508,GARD:0020756,GARD:0003881,Rare inborn errors of metabolism +GARD:0020758,GARD:0022508,GARD:0021520,GARD:0017518,Rare inborn errors of metabolism +GARD:0020758,GARD:0022531,GARD:0021520,GARD:0020759,Rare genetic disease +GARD:0020758,GARD:0022508,GARD:0021520,GARD:0001191,Rare inborn errors of metabolism +GARD:0020758,GARD:0022508,GARD:0021520,GARD:0020759,Rare inborn errors of metabolism +GARD:0020758,GARD:0022531,GARD:0021520,GARD:0017518,Rare genetic disease +GARD:0020758,GARD:0022531,GARD:0021520,GARD:0005243,Rare genetic disease +GARD:0020758,GARD:0022531,GARD:0021520,GARD:0016486,Rare genetic disease +GARD:0020758,GARD:0022508,GARD:0021520,GARD:0005243,Rare inborn errors of metabolism +GARD:0020758,GARD:0022531,GARD:0021520,GARD:0001191,Rare genetic disease +GARD:0020758,GARD:0022531,GARD:0021520,GARD:0017501,Rare genetic disease +GARD:0020758,GARD:0022508,GARD:0021520,GARD:0016486,Rare inborn errors of metabolism +GARD:0020758,GARD:0022508,GARD:0021520,GARD:0017501,Rare inborn errors of metabolism +GARD:0020759,GARD:0022531,GARD:0020758,GARD:0009998,Rare genetic disease +GARD:0020759,GARD:0022508,GARD:0020758,GARD:0009998,Rare inborn errors of metabolism +GARD:0020759,GARD:0022508,GARD:0020758,GARD:0019251,Rare inborn errors of metabolism +GARD:0020759,GARD:0022531,GARD:0020758,GARD:0019251,Rare genetic disease +GARD:0020759,GARD:0022508,GARD:0020758,GARD:0017229,Rare inborn errors of metabolism +GARD:0020759,GARD:0022531,GARD:0020758,GARD:0017229,Rare genetic disease +GARD:0020760,GARD:0022508,GARD:0018771,GARD:0010203,Rare inborn errors of metabolism +GARD:0020760,GARD:0022531,GARD:0018771,GARD:0010203,Rare genetic disease +GARD:0020760,GARD:0022508,GARD:0018771,GARD:0018841,Rare inborn errors of metabolism +GARD:0020760,GARD:0022508,GARD:0018771,GARD:0017143,Rare inborn errors of metabolism +GARD:0020760,GARD:0022531,GARD:0018771,GARD:0017026,Rare genetic disease +GARD:0020760,GARD:0022508,GARD:0018771,GARD:0009890,Rare inborn errors of metabolism +GARD:0020760,GARD:0022508,GARD:0018771,GARD:0021819,Rare inborn errors of metabolism +GARD:0020760,GARD:0022531,GARD:0018771,GARD:0020686,Rare genetic disease +GARD:0020760,GARD:0022531,GARD:0018771,GARD:0021819,Rare genetic disease +GARD:0020760,GARD:0022531,GARD:0018771,GARD:0018841,Rare genetic disease +GARD:0020760,GARD:0022508,GARD:0018771,GARD:0020686,Rare inborn errors of metabolism +GARD:0020760,GARD:0022531,GARD:0018771,GARD:0017615,Rare genetic disease +GARD:0020760,GARD:0022531,GARD:0018771,GARD:0009890,Rare genetic disease +GARD:0020760,GARD:0022508,GARD:0018771,GARD:0017615,Rare inborn errors of metabolism +GARD:0020760,GARD:0022531,GARD:0018771,GARD:0017143,Rare genetic disease +GARD:0020760,GARD:0022508,GARD:0018771,GARD:0017026,Rare inborn errors of metabolism +GARD:0020760,GARD:0022508,GARD:0018771,GARD:0017794,Rare inborn errors of metabolism +GARD:0020760,GARD:0022531,GARD:0018771,GARD:0017794,Rare genetic disease +GARD:0020761,GARD:0022531,GARD:0018887,GARD:0020762,Rare genetic disease +GARD:0020761,GARD:0022508,GARD:0018887,GARD:0020763,Rare inborn errors of metabolism +GARD:0020761,GARD:0022531,GARD:0018887,GARD:0020763,Rare genetic disease +GARD:0020761,GARD:0022508,GARD:0018887,GARD:0020762,Rare inborn errors of metabolism +GARD:0020762,GARD:0022508,GARD:0020761,GARD:0017235,Rare inborn errors of metabolism +GARD:0020762,GARD:0022508,GARD:0020761,GARD:0017532,Rare inborn errors of metabolism +GARD:0020762,GARD:0022531,GARD:0020761,GARD:0016581,Rare genetic disease +GARD:0020762,GARD:0022531,GARD:0020761,GARD:0017235,Rare genetic disease +GARD:0020762,GARD:0022531,GARD:0020761,GARD:0017532,Rare genetic disease +GARD:0020762,GARD:0022508,GARD:0020761,GARD:0016581,Rare inborn errors of metabolism +GARD:0020762,GARD:0022508,GARD:0020761,GARD:0001142,Rare inborn errors of metabolism +GARD:0020762,GARD:0022531,GARD:0020761,GARD:0016795,Rare genetic disease +GARD:0020762,GARD:0022508,GARD:0020761,GARD:0016795,Rare inborn errors of metabolism +GARD:0020762,GARD:0022508,GARD:0020761,GARD:0017831,Rare inborn errors of metabolism +GARD:0020762,GARD:0022531,GARD:0020761,GARD:0017831,Rare genetic disease +GARD:0020762,GARD:0022531,GARD:0020761,GARD:0001142,Rare genetic disease +GARD:0020763,GARD:0022531,GARD:0020761,GARD:0008331,Rare genetic disease +GARD:0020763,GARD:0022508,GARD:0020761,GARD:0008331,Rare inborn errors of metabolism +GARD:0020764,GARD:0022508,GARD:0018887,GARD:0002198,Rare inborn errors of metabolism +GARD:0020764,GARD:0022508,GARD:0018887,GARD:0000668,Rare inborn errors of metabolism +GARD:0020764,GARD:0022531,GARD:0018887,GARD:0011972,Rare genetic disease +GARD:0020764,GARD:0022531,GARD:0018887,GARD:0003682,Rare genetic disease +GARD:0020764,GARD:0022508,GARD:0018887,GARD:0017915,Rare inborn errors of metabolism +GARD:0020764,GARD:0022508,GARD:0018887,GARD:0009511,Rare inborn errors of metabolism +GARD:0020764,GARD:0022531,GARD:0018887,GARD:0017934,Rare genetic disease +GARD:0020764,GARD:0022531,GARD:0018887,GARD:0002198,Rare genetic disease +GARD:0020764,GARD:0022508,GARD:0018887,GARD:0003682,Rare inborn errors of metabolism +GARD:0020764,GARD:0022531,GARD:0018887,GARD:0000668,Rare genetic disease +GARD:0020764,GARD:0022508,GARD:0018887,GARD:0017934,Rare inborn errors of metabolism +GARD:0020764,GARD:0022531,GARD:0018887,GARD:0009511,Rare genetic disease +GARD:0020764,GARD:0022531,GARD:0018887,GARD:0017915,Rare genetic disease +GARD:0020764,GARD:0022508,GARD:0018887,GARD:0011972,Rare inborn errors of metabolism +GARD:0020765,GARD:0022531,GARD:0021322,GARD:0012986,Rare genetic disease +GARD:0020765,GARD:0022508,GARD:0021322,GARD:0016643,Rare inborn errors of metabolism +GARD:0020765,GARD:0022531,GARD:0021322,GARD:0016643,Rare genetic disease +GARD:0020765,GARD:0022508,GARD:0021322,GARD:0012986,Rare inborn errors of metabolism +GARD:0020766,GARD:0022531,GARD:0020546,GARD:0005053,Rare genetic disease +GARD:0020766,GARD:0022508,GARD:0020546,GARD:0003908,Rare inborn errors of metabolism +GARD:0020766,GARD:0022508,GARD:0020546,GARD:0005053,Rare inborn errors of metabolism +GARD:0020766,GARD:0022531,GARD:0020546,GARD:0018649,Rare genetic disease +GARD:0020766,GARD:0022508,GARD:0020546,GARD:0018649,Rare inborn errors of metabolism +GARD:0020766,GARD:0022531,GARD:0020546,GARD:0000048,Rare genetic disease +GARD:0020766,GARD:0022531,GARD:0020546,GARD:0003908,Rare genetic disease +GARD:0020766,GARD:0022508,GARD:0020546,GARD:0008295,Rare inborn errors of metabolism +GARD:0020766,GARD:0022531,GARD:0020546,GARD:0008295,Rare genetic disease +GARD:0020766,GARD:0022508,GARD:0020546,GARD:0000048,Rare inborn errors of metabolism +GARD:0020767,GARD:0022508,GARD:0020756,,Rare inborn errors of metabolism +GARD:0020767,GARD:0022531,GARD:0020756,,Rare genetic disease +GARD:0020768,GARD:0022531,GARD:0020757,,Rare genetic disease +GARD:0020768,GARD:0022508,GARD:0020757,,Rare inborn errors of metabolism +GARD:0020769,GARD:0022531,GARD:0013643,GARD:0017564,Rare genetic disease +GARD:0020769,GARD:0022506,GARD:0019790,GARD:0017564,Rare hepatic disease +GARD:0020769,GARD:0022506,GARD:0019790,GARD:0005783,Rare hepatic disease +GARD:0020769,GARD:0022531,GARD:0019790,GARD:0005783,Rare genetic disease +GARD:0020769,GARD:0022531,GARD:0019790,GARD:0004062,Rare genetic disease +GARD:0020769,GARD:0022506,GARD:0019790,GARD:0013644,Rare hepatic disease +GARD:0020769,GARD:0022531,GARD:0013643,GARD:0013644,Rare genetic disease +GARD:0020769,GARD:0022508,GARD:0013643,GARD:0004062,Rare inborn errors of metabolism +GARD:0020769,GARD:0022531,GARD:0019790,GARD:0017564,Rare genetic disease +GARD:0020769,GARD:0022531,GARD:0013643,GARD:0005783,Rare genetic disease +GARD:0020769,GARD:0022508,GARD:0013643,GARD:0017564,Rare inborn errors of metabolism +GARD:0020769,GARD:0022508,GARD:0013643,GARD:0005783,Rare inborn errors of metabolism +GARD:0020769,GARD:0022508,GARD:0013643,GARD:0003972,Rare inborn errors of metabolism +GARD:0020769,GARD:0022508,GARD:0013643,GARD:0013644,Rare inborn errors of metabolism +GARD:0020769,GARD:0022531,GARD:0019790,GARD:0003972,Rare genetic disease +GARD:0020769,GARD:0022531,GARD:0013643,GARD:0004062,Rare genetic disease +GARD:0020769,GARD:0022506,GARD:0019790,GARD:0003972,Rare hepatic disease +GARD:0020769,GARD:0022531,GARD:0013643,GARD:0003972,Rare genetic disease +GARD:0020769,GARD:0022506,GARD:0019790,GARD:0004062,Rare hepatic disease +GARD:0020769,GARD:0022531,GARD:0019790,GARD:0013644,Rare genetic disease +GARD:0020770,GARD:0022531,GARD:0020878,,Rare genetic disease +GARD:0020770,GARD:0022513,GARD:0020878,,Rare developmental defect during embryogenesis +GARD:0020771,GARD:0022524,GARD:0012825,,Rare neurologic disease +GARD:0020771,GARD:0022531,GARD:0012825,,Rare genetic disease +GARD:0020771,GARD:0022513,GARD:0020833,,Rare developmental defect during embryogenesis +GARD:0020771,GARD:0022531,GARD:0020833,,Rare genetic disease +GARD:0020772,GARD:0022531,GARD:0020869,,Rare genetic disease +GARD:0020772,GARD:0022513,GARD:0020869,,Rare developmental defect during embryogenesis +GARD:0020773,GARD:0022531,GARD:0020884,,Rare genetic disease +GARD:0020773,GARD:0022513,GARD:0020884,,Rare developmental defect during embryogenesis +GARD:0020774,GARD:0022531,GARD:0020816,,Rare genetic disease +GARD:0020774,GARD:0022513,GARD:0020816,,Rare developmental defect during embryogenesis +GARD:0020775,GARD:0022513,GARD:0020869,,Rare developmental defect during embryogenesis +GARD:0020775,GARD:0022531,GARD:0020869,,Rare genetic disease +GARD:0020776,GARD:0022531,GARD:0020817,,Rare genetic disease +GARD:0020776,GARD:0022513,GARD:0020817,,Rare developmental defect during embryogenesis +GARD:0020777,GARD:0022531,GARD:0020839,,Rare genetic disease +GARD:0020777,GARD:0022513,GARD:0020839,,Rare developmental defect during embryogenesis +GARD:0020778,GARD:0022513,GARD:0020839,,Rare developmental defect during embryogenesis +GARD:0020778,GARD:0022531,GARD:0020839,,Rare genetic disease +GARD:0020779,GARD:0022522,GARD:0021967,,Rare hematologic disease +GARD:0020779,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0020779,GARD:0022531,GARD:0019896,,Rare genetic disease +GARD:0020779,GARD:0022513,GARD:0019896,,Rare developmental defect during embryogenesis +GARD:0020779,GARD:0022531,GARD:0021967,,Rare genetic disease +GARD:0020779,GARD:0022531,GARD:0020840,,Rare genetic disease +GARD:0020779,GARD:0022528,GARD:0019896,,Rare otorhinolaryngologic disease +GARD:0020779,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0020779,GARD:0022507,GARD:0019896,,Rare maxillo-facial surgical disease +GARD:0020779,GARD:0022513,GARD:0020840,,Rare developmental defect during embryogenesis +GARD:0020779,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0020780,GARD:0022513,GARD:0020891,,Rare developmental defect during embryogenesis +GARD:0020780,GARD:0022531,GARD:0020891,,Rare genetic disease +GARD:0020781,GARD:0022531,GARD:0020872,,Rare genetic disease +GARD:0020781,GARD:0022513,GARD:0020872,,Rare developmental defect during embryogenesis +GARD:0020782,GARD:0022531,GARD:0020912,,Rare genetic disease +GARD:0020782,GARD:0022513,GARD:0020912,,Rare developmental defect during embryogenesis +GARD:0020783,GARD:0022531,GARD:0020918,,Rare genetic disease +GARD:0020783,GARD:0022513,GARD:0020918,,Rare developmental defect during embryogenesis +GARD:0020784,GARD:0022513,GARD:0020918,,Rare developmental defect during embryogenesis +GARD:0020784,GARD:0022531,GARD:0020918,,Rare genetic disease +GARD:0020785,GARD:0022513,GARD:0019429,,Rare developmental defect during embryogenesis +GARD:0020785,GARD:0022531,GARD:0019429,,Rare genetic disease +GARD:0020786,GARD:0022513,GARD:0020825,,Rare developmental defect during embryogenesis +GARD:0020786,GARD:0022536,GARD:0006408,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020786,GARD:0022535,GARD:0006408,,Rare neoplastic disease +GARD:0020786,GARD:0022516,GARD:0006408,,Rare gastroenterologic disease +GARD:0020786,GARD:0022531,GARD:0020825,,Rare genetic disease +GARD:0020786,GARD:0022531,GARD:0006408,,Rare genetic disease +GARD:0020787,GARD:0022513,GARD:0009182,,Rare developmental defect during embryogenesis +GARD:0020787,GARD:0022513,GARD:0020839,,Rare developmental defect during embryogenesis +GARD:0020787,GARD:0022534,GARD:0009182,,Rare abdominal surgical disease +GARD:0020787,GARD:0022536,GARD:0009182,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020787,GARD:0022531,GARD:0020839,,Rare genetic disease +GARD:0020787,GARD:0022531,GARD:0009182,,Rare genetic disease +GARD:0020787,GARD:0022511,GARD:0009182,,Rare bone disease +GARD:0020787,GARD:0022520,GARD:0009182,,Rare ophthalmic disorder +GARD:0020788,GARD:0022536,GARD:0009182,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020788,GARD:0022531,GARD:0009182,,Rare genetic disease +GARD:0020788,GARD:0022520,GARD:0009182,,Rare ophthalmic disorder +GARD:0020788,GARD:0022511,GARD:0009182,,Rare bone disease +GARD:0020788,GARD:0022534,GARD:0009182,,Rare abdominal surgical disease +GARD:0020788,GARD:0022513,GARD:0009182,,Rare developmental defect during embryogenesis +GARD:0020789,GARD:0022531,GARD:0019422,GARD:0020821,Rare genetic disease +GARD:0020789,GARD:0022513,GARD:0019422,GARD:0020821,Rare developmental defect during embryogenesis +GARD:0020789,GARD:0022513,GARD:0019422,GARD:0020806,Rare developmental defect during embryogenesis +GARD:0020789,GARD:0022531,GARD:0019422,GARD:0020806,Rare genetic disease +GARD:0020790,GARD:0022513,GARD:0019422,GARD:0020807,Rare developmental defect during embryogenesis +GARD:0020790,GARD:0022531,GARD:0019422,GARD:0020822,Rare genetic disease +GARD:0020790,GARD:0022513,GARD:0019422,GARD:0020822,Rare developmental defect during embryogenesis +GARD:0020790,GARD:0022531,GARD:0019422,GARD:0020807,Rare genetic disease +GARD:0020791,GARD:0022513,GARD:0019422,GARD:0020823,Rare developmental defect during embryogenesis +GARD:0020791,GARD:0022531,GARD:0019422,GARD:0000037,Rare genetic disease +GARD:0020791,GARD:0022513,GARD:0019422,GARD:0000037,Rare developmental defect during embryogenesis +GARD:0020791,GARD:0022531,GARD:0019422,GARD:0020823,Rare genetic disease +GARD:0020792,GARD:0022513,GARD:0019422,GARD:0020824,Rare developmental defect during embryogenesis +GARD:0020792,GARD:0022513,GARD:0019422,GARD:0020808,Rare developmental defect during embryogenesis +GARD:0020792,GARD:0022531,GARD:0019422,GARD:0020808,Rare genetic disease +GARD:0020792,GARD:0022531,GARD:0019422,GARD:0020824,Rare genetic disease +GARD:0020793,GARD:0022513,GARD:0019422,GARD:0020809,Rare developmental defect during embryogenesis +GARD:0020793,GARD:0022531,GARD:0019422,GARD:0020809,Rare genetic disease +GARD:0020793,GARD:0022531,GARD:0019422,GARD:0020825,Rare genetic disease +GARD:0020793,GARD:0022513,GARD:0019422,GARD:0020825,Rare developmental defect during embryogenesis +GARD:0020794,GARD:0022513,GARD:0019422,GARD:0020826,Rare developmental defect during embryogenesis +GARD:0020794,GARD:0022531,GARD:0019422,GARD:0020826,Rare genetic disease +GARD:0020794,GARD:0022531,GARD:0019422,GARD:0020810,Rare genetic disease +GARD:0020794,GARD:0022513,GARD:0019422,GARD:0020810,Rare developmental defect during embryogenesis +GARD:0020795,GARD:0022531,GARD:0019422,GARD:0020811,Rare genetic disease +GARD:0020795,GARD:0022531,GARD:0019422,GARD:0020827,Rare genetic disease +GARD:0020795,GARD:0022513,GARD:0019422,GARD:0020811,Rare developmental defect during embryogenesis +GARD:0020795,GARD:0022513,GARD:0019422,GARD:0020827,Rare developmental defect during embryogenesis +GARD:0020796,GARD:0022531,GARD:0019422,GARD:0020812,Rare genetic disease +GARD:0020796,GARD:0022531,GARD:0019422,GARD:0020828,Rare genetic disease +GARD:0020796,GARD:0022513,GARD:0019422,GARD:0020828,Rare developmental defect during embryogenesis +GARD:0020796,GARD:0022513,GARD:0019422,GARD:0020812,Rare developmental defect during embryogenesis +GARD:0020797,GARD:0022531,GARD:0019422,GARD:0020813,Rare genetic disease +GARD:0020797,GARD:0022513,GARD:0019422,GARD:0020813,Rare developmental defect during embryogenesis +GARD:0020797,GARD:0022513,GARD:0019422,GARD:0020829,Rare developmental defect during embryogenesis +GARD:0020797,GARD:0022531,GARD:0019422,GARD:0020829,Rare genetic disease +GARD:0020798,GARD:0022531,GARD:0019422,GARD:0020814,Rare genetic disease +GARD:0020798,GARD:0022531,GARD:0019422,GARD:0020830,Rare genetic disease +GARD:0020798,GARD:0022513,GARD:0019422,GARD:0020830,Rare developmental defect during embryogenesis +GARD:0020798,GARD:0022513,GARD:0019422,GARD:0020814,Rare developmental defect during embryogenesis +GARD:0020799,GARD:0022531,GARD:0019422,GARD:0020831,Rare genetic disease +GARD:0020799,GARD:0022513,GARD:0019422,GARD:0020815,Rare developmental defect during embryogenesis +GARD:0020799,GARD:0022531,GARD:0019422,GARD:0020815,Rare genetic disease +GARD:0020799,GARD:0022513,GARD:0019422,GARD:0020831,Rare developmental defect during embryogenesis +GARD:0020800,GARD:0022513,GARD:0021115,GARD:0019330,Rare developmental defect during embryogenesis +GARD:0020800,GARD:0022513,GARD:0021115,GARD:0019328,Rare developmental defect during embryogenesis +GARD:0020800,GARD:0022531,GARD:0021115,GARD:0021141,Rare genetic disease +GARD:0020800,GARD:0022531,GARD:0021115,GARD:0019328,Rare genetic disease +GARD:0020800,GARD:0022513,GARD:0021115,GARD:0013390,Rare developmental defect during embryogenesis +GARD:0020800,GARD:0022531,GARD:0021115,GARD:0019330,Rare genetic disease +GARD:0020800,GARD:0022513,GARD:0021115,GARD:0021141,Rare developmental defect during embryogenesis +GARD:0020800,GARD:0022531,GARD:0021115,GARD:0013390,Rare genetic disease +GARD:0020801,GARD:0022531,GARD:0019422,GARD:0020835,Rare genetic disease +GARD:0020801,GARD:0022513,GARD:0019422,GARD:0020816,Rare developmental defect during embryogenesis +GARD:0020801,GARD:0022531,GARD:0019422,GARD:0020816,Rare genetic disease +GARD:0020801,GARD:0022513,GARD:0019422,GARD:0020835,Rare developmental defect during embryogenesis +GARD:0020802,GARD:0022531,GARD:0019422,GARD:0020817,Rare genetic disease +GARD:0020802,GARD:0022513,GARD:0019422,GARD:0020836,Rare developmental defect during embryogenesis +GARD:0020802,GARD:0022513,GARD:0019422,GARD:0020817,Rare developmental defect during embryogenesis +GARD:0020802,GARD:0022531,GARD:0019422,GARD:0020836,Rare genetic disease +GARD:0020803,GARD:0022531,GARD:0019422,GARD:0020837,Rare genetic disease +GARD:0020803,GARD:0022513,GARD:0019422,GARD:0020818,Rare developmental defect during embryogenesis +GARD:0020803,GARD:0022513,GARD:0019422,GARD:0020837,Rare developmental defect during embryogenesis +GARD:0020803,GARD:0022531,GARD:0019422,GARD:0020818,Rare genetic disease +GARD:0020804,GARD:0022531,GARD:0019422,GARD:0020819,Rare genetic disease +GARD:0020804,GARD:0022513,GARD:0019422,GARD:0020819,Rare developmental defect during embryogenesis +GARD:0020804,GARD:0022531,GARD:0019422,GARD:0020838,Rare genetic disease +GARD:0020804,GARD:0022513,GARD:0019422,GARD:0020838,Rare developmental defect during embryogenesis +GARD:0020805,GARD:0022513,GARD:0019422,GARD:0020839,Rare developmental defect during embryogenesis +GARD:0020805,GARD:0022531,GARD:0019422,GARD:0020839,Rare genetic disease +GARD:0020805,GARD:0022513,GARD:0019422,GARD:0020820,Rare developmental defect during embryogenesis +GARD:0020805,GARD:0022531,GARD:0019422,GARD:0020820,Rare genetic disease +GARD:0020806,GARD:0022513,GARD:0020789,GARD:0017668,Rare developmental defect during embryogenesis +GARD:0020806,GARD:0022513,GARD:0020789,GARD:0018037,Rare developmental defect during embryogenesis +GARD:0020806,GARD:0022513,GARD:0020789,GARD:0021898,Rare developmental defect during embryogenesis +GARD:0020806,GARD:0022531,GARD:0020789,GARD:0006082,Rare genetic disease +GARD:0020806,GARD:0022531,GARD:0020789,GARD:0021173,Rare genetic disease +GARD:0020806,GARD:0022531,GARD:0020789,GARD:0021898,Rare genetic disease +GARD:0020806,GARD:0022513,GARD:0020789,GARD:0006082,Rare developmental defect during embryogenesis +GARD:0020806,GARD:0022513,GARD:0020789,GARD:0021173,Rare developmental defect during embryogenesis +GARD:0020806,GARD:0022531,GARD:0020789,GARD:0018037,Rare genetic disease +GARD:0020806,GARD:0022531,GARD:0020789,GARD:0017668,Rare genetic disease +GARD:0020807,GARD:0022513,GARD:0020790,GARD:0021557,Rare developmental defect during embryogenesis +GARD:0020807,GARD:0022513,GARD:0020790,GARD:0013391,Rare developmental defect during embryogenesis +GARD:0020807,GARD:0022513,GARD:0020790,GARD:0021582,Rare developmental defect during embryogenesis +GARD:0020807,GARD:0022531,GARD:0020790,GARD:0021582,Rare genetic disease +GARD:0020807,GARD:0022531,GARD:0020790,GARD:0021557,Rare genetic disease +GARD:0020807,GARD:0022531,GARD:0020790,GARD:0013391,Rare genetic disease +GARD:0020808,GARD:0022531,GARD:0020792,GARD:0007896,Rare genetic disease +GARD:0020808,GARD:0022513,GARD:0020792,GARD:0007896,Rare developmental defect during embryogenesis +GARD:0020809,GARD:0022513,GARD:0020793,GARD:0006213,Rare developmental defect during embryogenesis +GARD:0020809,GARD:0022531,GARD:0020793,GARD:0006213,Rare genetic disease +GARD:0020810,GARD:0022531,GARD:0020794,GARD:0020691,Rare genetic disease +GARD:0020810,GARD:0022513,GARD:0020794,GARD:0020691,Rare developmental defect during embryogenesis +GARD:0020810,GARD:0022531,GARD:0020794,GARD:0016845,Rare genetic disease +GARD:0020810,GARD:0022513,GARD:0020794,GARD:0016845,Rare developmental defect during embryogenesis +GARD:0020811,GARD:0022531,GARD:0020795,GARD:0019325,Rare genetic disease +GARD:0020811,GARD:0022513,GARD:0020795,GARD:0019325,Rare developmental defect during embryogenesis +GARD:0020812,GARD:0022531,GARD:0020796,GARD:0003769,Rare genetic disease +GARD:0020812,GARD:0022513,GARD:0020796,GARD:0020693,Rare developmental defect during embryogenesis +GARD:0020812,GARD:0022513,GARD:0020796,GARD:0003769,Rare developmental defect during embryogenesis +GARD:0020812,GARD:0022531,GARD:0020796,GARD:0020693,Rare genetic disease +GARD:0020813,GARD:0022531,GARD:0020797,GARD:0003773,Rare genetic disease +GARD:0020813,GARD:0022531,GARD:0020797,GARD:0021437,Rare genetic disease +GARD:0020813,GARD:0022513,GARD:0020797,GARD:0003773,Rare developmental defect during embryogenesis +GARD:0020813,GARD:0022513,GARD:0020797,GARD:0018732,Rare developmental defect during embryogenesis +GARD:0020813,GARD:0022513,GARD:0020797,GARD:0021437,Rare developmental defect during embryogenesis +GARD:0020813,GARD:0022531,GARD:0020797,GARD:0018732,Rare genetic disease +GARD:0020814,GARD:0022531,GARD:0020798,GARD:0017311,Rare genetic disease +GARD:0020814,GARD:0022513,GARD:0020798,GARD:0002911,Rare developmental defect during embryogenesis +GARD:0020814,GARD:0022513,GARD:0020798,GARD:0017311,Rare developmental defect during embryogenesis +GARD:0020814,GARD:0022513,GARD:0020798,GARD:0001323,Rare developmental defect during embryogenesis +GARD:0020814,GARD:0022531,GARD:0020798,GARD:0002911,Rare genetic disease +GARD:0020814,GARD:0022531,GARD:0020798,GARD:0001323,Rare genetic disease +GARD:0020815,GARD:0022513,GARD:0020799,GARD:0009762,Rare developmental defect during embryogenesis +GARD:0020815,GARD:0022531,GARD:0020799,GARD:0005528,Rare genetic disease +GARD:0020815,GARD:0022513,GARD:0020799,GARD:0005528,Rare developmental defect during embryogenesis +GARD:0020815,GARD:0022513,GARD:0020799,GARD:0020601,Rare developmental defect during embryogenesis +GARD:0020815,GARD:0022531,GARD:0020799,GARD:0020601,Rare genetic disease +GARD:0020815,GARD:0022531,GARD:0020799,GARD:0009762,Rare genetic disease +GARD:0020816,GARD:0022513,GARD:0020801,GARD:0010754,Rare developmental defect during embryogenesis +GARD:0020816,GARD:0022513,GARD:0020801,GARD:0020774,Rare developmental defect during embryogenesis +GARD:0020816,GARD:0022531,GARD:0020801,GARD:0016862,Rare genetic disease +GARD:0020816,GARD:0022531,GARD:0020801,GARD:0020774,Rare genetic disease +GARD:0020816,GARD:0022513,GARD:0020801,GARD:0017243,Rare developmental defect during embryogenesis +GARD:0020816,GARD:0022513,GARD:0020801,GARD:0016862,Rare developmental defect during embryogenesis +GARD:0020816,GARD:0022513,GARD:0020801,GARD:0017244,Rare developmental defect during embryogenesis +GARD:0020816,GARD:0022531,GARD:0020801,GARD:0017243,Rare genetic disease +GARD:0020816,GARD:0022531,GARD:0020801,GARD:0017244,Rare genetic disease +GARD:0020816,GARD:0022531,GARD:0020801,GARD:0010754,Rare genetic disease +GARD:0020816,GARD:0022531,GARD:0020801,GARD:0017920,Rare genetic disease +GARD:0020816,GARD:0022513,GARD:0020801,GARD:0017920,Rare developmental defect during embryogenesis +GARD:0020816,GARD:0022531,GARD:0020801,GARD:0010740,Rare genetic disease +GARD:0020816,GARD:0022531,GARD:0020801,GARD:0009481,Rare genetic disease +GARD:0020816,GARD:0022513,GARD:0020801,GARD:0010740,Rare developmental defect during embryogenesis +GARD:0020816,GARD:0022513,GARD:0020801,GARD:0009481,Rare developmental defect during embryogenesis +GARD:0020817,GARD:0022531,GARD:0020802,GARD:0005221,Rare genetic disease +GARD:0020817,GARD:0022531,GARD:0020802,GARD:0008197,Rare genetic disease +GARD:0020817,GARD:0022513,GARD:0020802,GARD:0003669,Rare developmental defect during embryogenesis +GARD:0020817,GARD:0022513,GARD:0020802,GARD:0020776,Rare developmental defect during embryogenesis +GARD:0020817,GARD:0022531,GARD:0020802,GARD:0010996,Rare genetic disease +GARD:0020817,GARD:0022513,GARD:0020802,GARD:0010996,Rare developmental defect during embryogenesis +GARD:0020817,GARD:0022531,GARD:0020802,GARD:0020776,Rare genetic disease +GARD:0020817,GARD:0022531,GARD:0020802,GARD:0003669,Rare genetic disease +GARD:0020817,GARD:0022513,GARD:0020802,GARD:0008197,Rare developmental defect during embryogenesis +GARD:0020817,GARD:0022513,GARD:0020802,GARD:0005221,Rare developmental defect during embryogenesis +GARD:0020818,GARD:0022531,GARD:0020803,GARD:0008631,Rare genetic disease +GARD:0020818,GARD:0022513,GARD:0020803,GARD:0008631,Rare developmental defect during embryogenesis +GARD:0020819,GARD:0022531,GARD:0020804,GARD:0019326,Rare genetic disease +GARD:0020819,GARD:0022513,GARD:0020804,GARD:0017542,Rare developmental defect during embryogenesis +GARD:0020819,GARD:0022531,GARD:0020804,GARD:0010991,Rare genetic disease +GARD:0020819,GARD:0022513,GARD:0020804,GARD:0010991,Rare developmental defect during embryogenesis +GARD:0020819,GARD:0022513,GARD:0020804,GARD:0019326,Rare developmental defect during embryogenesis +GARD:0020819,GARD:0022531,GARD:0020804,GARD:0017542,Rare genetic disease +GARD:0020820,GARD:0022531,GARD:0020805,GARD:0021360,Rare genetic disease +GARD:0020820,GARD:0022531,GARD:0020805,GARD:0012492,Rare genetic disease +GARD:0020820,GARD:0022531,GARD:0020805,GARD:0017250,Rare genetic disease +GARD:0020820,GARD:0022513,GARD:0020805,GARD:0012492,Rare developmental defect during embryogenesis +GARD:0020820,GARD:0022513,GARD:0020805,GARD:0017250,Rare developmental defect during embryogenesis +GARD:0020820,GARD:0022513,GARD:0020805,GARD:0021360,Rare developmental defect during embryogenesis +GARD:0020821,GARD:0022531,GARD:0020789,GARD:0016640,Rare genetic disease +GARD:0020821,GARD:0022513,GARD:0020789,GARD:0003738,Rare developmental defect during embryogenesis +GARD:0020821,GARD:0022531,GARD:0020789,GARD:0010813,Rare genetic disease +GARD:0020821,GARD:0022513,GARD:0020789,GARD:0010813,Rare developmental defect during embryogenesis +GARD:0020821,GARD:0022513,GARD:0020789,GARD:0010943,Rare developmental defect during embryogenesis +GARD:0020821,GARD:0022531,GARD:0020789,GARD:0003738,Rare genetic disease +GARD:0020821,GARD:0022531,GARD:0020789,GARD:0010943,Rare genetic disease +GARD:0020821,GARD:0022513,GARD:0020789,GARD:0016640,Rare developmental defect during embryogenesis +GARD:0020822,GARD:0022531,GARD:0020790,GARD:0010998,Rare genetic disease +GARD:0020822,GARD:0022513,GARD:0020790,GARD:0010202,Rare developmental defect during embryogenesis +GARD:0020822,GARD:0022513,GARD:0020790,GARD:0013206,Rare developmental defect during embryogenesis +GARD:0020822,GARD:0022531,GARD:0020790,GARD:0017204,Rare genetic disease +GARD:0020822,GARD:0022531,GARD:0020790,GARD:0010202,Rare genetic disease +GARD:0020822,GARD:0022531,GARD:0020790,GARD:0003746,Rare genetic disease +GARD:0020822,GARD:0022513,GARD:0020790,GARD:0010998,Rare developmental defect during embryogenesis +GARD:0020822,GARD:0022513,GARD:0020790,GARD:0017248,Rare developmental defect during embryogenesis +GARD:0020822,GARD:0022531,GARD:0020790,GARD:0020690,Rare genetic disease +GARD:0020822,GARD:0022513,GARD:0020790,GARD:0017204,Rare developmental defect during embryogenesis +GARD:0020822,GARD:0022531,GARD:0020790,GARD:0017248,Rare genetic disease +GARD:0020822,GARD:0022513,GARD:0020790,GARD:0020690,Rare developmental defect during embryogenesis +GARD:0020822,GARD:0022531,GARD:0020790,GARD:0013206,Rare genetic disease +GARD:0020822,GARD:0022513,GARD:0020790,GARD:0003746,Rare developmental defect during embryogenesis +GARD:0020823,GARD:0022531,GARD:0020791,GARD:0021534,Rare genetic disease +GARD:0020823,GARD:0022513,GARD:0020791,GARD:0011974,Rare developmental defect during embryogenesis +GARD:0020823,GARD:0022513,GARD:0020791,GARD:0022312,Rare developmental defect during embryogenesis +GARD:0020823,GARD:0022531,GARD:0020791,GARD:0011974,Rare genetic disease +GARD:0020823,GARD:0022531,GARD:0020791,GARD:0021633,Rare genetic disease +GARD:0020823,GARD:0022513,GARD:0020791,GARD:0016573,Rare developmental defect during embryogenesis +GARD:0020823,GARD:0022513,GARD:0020791,GARD:0021534,Rare developmental defect during embryogenesis +GARD:0020823,GARD:0022513,GARD:0020791,GARD:0021633,Rare developmental defect during embryogenesis +GARD:0020823,GARD:0022531,GARD:0020791,GARD:0016573,Rare genetic disease +GARD:0020823,GARD:0022531,GARD:0020791,GARD:0022312,Rare genetic disease +GARD:0020824,GARD:0022513,GARD:0020792,GARD:0022048,Rare developmental defect during embryogenesis +GARD:0020824,GARD:0022531,GARD:0020792,GARD:0022048,Rare genetic disease +GARD:0020824,GARD:0022513,GARD:0020792,GARD:0017181,Rare developmental defect during embryogenesis +GARD:0020824,GARD:0022531,GARD:0020792,GARD:0019327,Rare genetic disease +GARD:0020824,GARD:0022531,GARD:0020792,GARD:0017181,Rare genetic disease +GARD:0020824,GARD:0022513,GARD:0020792,GARD:0019327,Rare developmental defect during embryogenesis +GARD:0020825,GARD:0022513,GARD:0020793,GARD:0010091,Rare developmental defect during embryogenesis +GARD:0020825,GARD:0022531,GARD:0020793,GARD:0020786,Rare genetic disease +GARD:0020825,GARD:0022513,GARD:0020793,GARD:0012166,Rare developmental defect during embryogenesis +GARD:0020825,GARD:0022513,GARD:0020793,GARD:0018730,Rare developmental defect during embryogenesis +GARD:0020825,GARD:0022531,GARD:0020793,GARD:0021816,Rare genetic disease +GARD:0020825,GARD:0022531,GARD:0020793,GARD:0010091,Rare genetic disease +GARD:0020825,GARD:0022531,GARD:0020793,GARD:0021383,Rare genetic disease +GARD:0020825,GARD:0022513,GARD:0020793,GARD:0021383,Rare developmental defect during embryogenesis +GARD:0020825,GARD:0022513,GARD:0020793,GARD:0021816,Rare developmental defect during embryogenesis +GARD:0020825,GARD:0022531,GARD:0020793,GARD:0018730,Rare genetic disease +GARD:0020825,GARD:0022531,GARD:0020793,GARD:0012166,Rare genetic disease +GARD:0020825,GARD:0022513,GARD:0020793,GARD:0020786,Rare developmental defect during embryogenesis +GARD:0020826,GARD:0022513,GARD:0020794,GARD:0020126,Rare developmental defect during embryogenesis +GARD:0020826,GARD:0022531,GARD:0020794,GARD:0003764,Rare genetic disease +GARD:0020826,GARD:0022531,GARD:0020794,GARD:0018931,Rare genetic disease +GARD:0020826,GARD:0022513,GARD:0020794,GARD:0018931,Rare developmental defect during embryogenesis +GARD:0020826,GARD:0022531,GARD:0020794,GARD:0020126,Rare genetic disease +GARD:0020826,GARD:0022513,GARD:0020794,GARD:0003764,Rare developmental defect during embryogenesis +GARD:0020827,GARD:0022513,GARD:0020795,GARD:0018731,Rare developmental defect during embryogenesis +GARD:0020827,GARD:0022531,GARD:0020795,GARD:0007891,Rare genetic disease +GARD:0020827,GARD:0022513,GARD:0020795,GARD:0007891,Rare developmental defect during embryogenesis +GARD:0020827,GARD:0022531,GARD:0020795,GARD:0017218,Rare genetic disease +GARD:0020827,GARD:0022513,GARD:0020795,GARD:0017218,Rare developmental defect during embryogenesis +GARD:0020827,GARD:0022531,GARD:0020795,GARD:0020692,Rare genetic disease +GARD:0020827,GARD:0022531,GARD:0020795,GARD:0018731,Rare genetic disease +GARD:0020827,GARD:0022513,GARD:0020795,GARD:0020692,Rare developmental defect during embryogenesis +GARD:0020828,GARD:0022513,GARD:0020796,GARD:0017310,Rare developmental defect during embryogenesis +GARD:0020828,GARD:0022531,GARD:0020796,GARD:0004302,Rare genetic disease +GARD:0020828,GARD:0022531,GARD:0020796,GARD:0004722,Rare genetic disease +GARD:0020828,GARD:0022513,GARD:0020796,GARD:0004302,Rare developmental defect during embryogenesis +GARD:0020828,GARD:0022531,GARD:0020796,GARD:0007801,Rare genetic disease +GARD:0020828,GARD:0022513,GARD:0020796,GARD:0007801,Rare developmental defect during embryogenesis +GARD:0020828,GARD:0022513,GARD:0020796,GARD:0004722,Rare developmental defect during embryogenesis +GARD:0020828,GARD:0022531,GARD:0020796,GARD:0017310,Rare genetic disease +GARD:0020828,GARD:0022513,GARD:0020796,GARD:0012814,Rare developmental defect during embryogenesis +GARD:0020828,GARD:0022531,GARD:0020796,GARD:0012814,Rare genetic disease +GARD:0020829,GARD:0022513,GARD:0020797,GARD:0016846,Rare developmental defect during embryogenesis +GARD:0020829,GARD:0022513,GARD:0020797,GARD:0021526,Rare developmental defect during embryogenesis +GARD:0020829,GARD:0022531,GARD:0020797,GARD:0022009,Rare genetic disease +GARD:0020829,GARD:0022531,GARD:0020797,GARD:0021526,Rare genetic disease +GARD:0020829,GARD:0022513,GARD:0020797,GARD:0022212,Rare developmental defect during embryogenesis +GARD:0020829,GARD:0022531,GARD:0020797,GARD:0018934,Rare genetic disease +GARD:0020829,GARD:0022531,GARD:0020797,GARD:0022212,Rare genetic disease +GARD:0020829,GARD:0022513,GARD:0020797,GARD:0018934,Rare developmental defect during embryogenesis +GARD:0020829,GARD:0022531,GARD:0020797,GARD:0016846,Rare genetic disease +GARD:0020829,GARD:0022513,GARD:0020797,GARD:0021705,Rare developmental defect during embryogenesis +GARD:0020829,GARD:0022513,GARD:0020797,GARD:0022009,Rare developmental defect during embryogenesis +GARD:0020829,GARD:0022531,GARD:0020797,GARD:0021705,Rare genetic disease +GARD:0020830,GARD:0022531,GARD:0020798,GARD:0003711,Rare genetic disease +GARD:0020830,GARD:0022531,GARD:0020798,GARD:0017280,Rare genetic disease +GARD:0020830,GARD:0022513,GARD:0020798,GARD:0018729,Rare developmental defect during embryogenesis +GARD:0020830,GARD:0022531,GARD:0020798,GARD:0018729,Rare genetic disease +GARD:0020830,GARD:0022531,GARD:0020798,GARD:0016696,Rare genetic disease +GARD:0020830,GARD:0022513,GARD:0020798,GARD:0016696,Rare developmental defect during embryogenesis +GARD:0020830,GARD:0022513,GARD:0020798,GARD:0017280,Rare developmental defect during embryogenesis +GARD:0020830,GARD:0022513,GARD:0020798,GARD:0003711,Rare developmental defect during embryogenesis +GARD:0020831,GARD:0022513,GARD:0020799,GARD:0004224,Rare developmental defect during embryogenesis +GARD:0020831,GARD:0022513,GARD:0020799,GARD:0016910,Rare developmental defect during embryogenesis +GARD:0020831,GARD:0022531,GARD:0020799,GARD:0000307,Rare genetic disease +GARD:0020831,GARD:0022531,GARD:0020799,GARD:0021858,Rare genetic disease +GARD:0020831,GARD:0022531,GARD:0020799,GARD:0016910,Rare genetic disease +GARD:0020831,GARD:0022531,GARD:0020799,GARD:0004224,Rare genetic disease +GARD:0020831,GARD:0022513,GARD:0020799,GARD:0000307,Rare developmental defect during embryogenesis +GARD:0020831,GARD:0022531,GARD:0020799,GARD:0004168,Rare genetic disease +GARD:0020831,GARD:0022513,GARD:0020799,GARD:0021858,Rare developmental defect during embryogenesis +GARD:0020831,GARD:0022513,GARD:0020799,GARD:0004168,Rare developmental defect during embryogenesis +GARD:0020832,GARD:0022531,GARD:0019422,GARD:0021737,Rare genetic disease +GARD:0020832,GARD:0022513,GARD:0019422,GARD:0016570,Rare developmental defect during embryogenesis +GARD:0020832,GARD:0022513,GARD:0019422,GARD:0016847,Rare developmental defect during embryogenesis +GARD:0020832,GARD:0022531,GARD:0019422,GARD:0016570,Rare genetic disease +GARD:0020832,GARD:0022513,GARD:0019422,GARD:0021737,Rare developmental defect during embryogenesis +GARD:0020832,GARD:0022531,GARD:0019422,GARD:0016847,Rare genetic disease +GARD:0020832,GARD:0022513,GARD:0019422,GARD:0016571,Rare developmental defect during embryogenesis +GARD:0020832,GARD:0022531,GARD:0019422,GARD:0016571,Rare genetic disease +GARD:0020833,GARD:0022531,GARD:0019422,GARD:0020771,Rare genetic disease +GARD:0020833,GARD:0022513,GARD:0019422,GARD:0017241,Rare developmental defect during embryogenesis +GARD:0020833,GARD:0022513,GARD:0019422,GARD:0019329,Rare developmental defect during embryogenesis +GARD:0020833,GARD:0022531,GARD:0019422,GARD:0017221,Rare genetic disease +GARD:0020833,GARD:0022531,GARD:0019422,GARD:0021706,Rare genetic disease +GARD:0020833,GARD:0022513,GARD:0019422,GARD:0017221,Rare developmental defect during embryogenesis +GARD:0020833,GARD:0022531,GARD:0019422,GARD:0002384,Rare genetic disease +GARD:0020833,GARD:0022531,GARD:0019422,GARD:0019329,Rare genetic disease +GARD:0020833,GARD:0022531,GARD:0019422,GARD:0017241,Rare genetic disease +GARD:0020833,GARD:0022513,GARD:0019422,GARD:0017220,Rare developmental defect during embryogenesis +GARD:0020833,GARD:0022513,GARD:0019422,GARD:0021706,Rare developmental defect during embryogenesis +GARD:0020833,GARD:0022513,GARD:0019422,GARD:0002384,Rare developmental defect during embryogenesis +GARD:0020833,GARD:0022531,GARD:0019422,GARD:0017220,Rare genetic disease +GARD:0020833,GARD:0022513,GARD:0019422,GARD:0020771,Rare developmental defect during embryogenesis +GARD:0020834,GARD:0022513,GARD:0019422,GARD:0019577,Rare developmental defect during embryogenesis +GARD:0020834,GARD:0022531,GARD:0019422,GARD:0012219,Rare genetic disease +GARD:0020834,GARD:0022531,GARD:0019422,GARD:0016572,Rare genetic disease +GARD:0020834,GARD:0022513,GARD:0019422,GARD:0016572,Rare developmental defect during embryogenesis +GARD:0020834,GARD:0022513,GARD:0019422,GARD:0019576,Rare developmental defect during embryogenesis +GARD:0020834,GARD:0022513,GARD:0019422,GARD:0012219,Rare developmental defect during embryogenesis +GARD:0020834,GARD:0022531,GARD:0019422,GARD:0019577,Rare genetic disease +GARD:0020834,GARD:0022513,GARD:0019422,GARD:0011911,Rare developmental defect during embryogenesis +GARD:0020834,GARD:0022531,GARD:0019422,GARD:0011911,Rare genetic disease +GARD:0020834,GARD:0022531,GARD:0019422,GARD:0019576,Rare genetic disease +GARD:0020834,GARD:0022531,GARD:0019422,GARD:0010525,Rare genetic disease +GARD:0020834,GARD:0022531,GARD:0019422,GARD:0010296,Rare genetic disease +GARD:0020834,GARD:0022531,GARD:0019422,GARD:0017242,Rare genetic disease +GARD:0020834,GARD:0022513,GARD:0019422,GARD:0010525,Rare developmental defect during embryogenesis +GARD:0020834,GARD:0022513,GARD:0019422,GARD:0017242,Rare developmental defect during embryogenesis +GARD:0020834,GARD:0022513,GARD:0019422,GARD:0010296,Rare developmental defect during embryogenesis +GARD:0020835,GARD:0022531,GARD:0020801,GARD:0021523,Rare genetic disease +GARD:0020835,GARD:0022513,GARD:0020801,GARD:0021523,Rare developmental defect during embryogenesis +GARD:0020835,GARD:0022531,GARD:0020801,GARD:0010935,Rare genetic disease +GARD:0020835,GARD:0022513,GARD:0020801,GARD:0010935,Rare developmental defect during embryogenesis +GARD:0020836,GARD:0022513,GARD:0020802,GARD:0005408,Rare developmental defect during embryogenesis +GARD:0020836,GARD:0022531,GARD:0020802,GARD:0022202,Rare genetic disease +GARD:0020836,GARD:0022513,GARD:0020802,GARD:0022202,Rare developmental defect during embryogenesis +GARD:0020836,GARD:0022531,GARD:0020802,GARD:0010936,Rare genetic disease +GARD:0020836,GARD:0022513,GARD:0020802,GARD:0010972,Rare developmental defect during embryogenesis +GARD:0020836,GARD:0022531,GARD:0020802,GARD:0005408,Rare genetic disease +GARD:0020836,GARD:0022513,GARD:0020802,GARD:0013297,Rare developmental defect during embryogenesis +GARD:0020836,GARD:0022531,GARD:0020802,GARD:0013297,Rare genetic disease +GARD:0020836,GARD:0022513,GARD:0020802,GARD:0010936,Rare developmental defect during embryogenesis +GARD:0020836,GARD:0022531,GARD:0020802,GARD:0017576,Rare genetic disease +GARD:0020836,GARD:0022513,GARD:0020802,GARD:0017576,Rare developmental defect during embryogenesis +GARD:0020836,GARD:0022531,GARD:0020802,GARD:0010972,Rare genetic disease +GARD:0020837,GARD:0022531,GARD:0020803,GARD:0010865,Rare genetic disease +GARD:0020837,GARD:0022513,GARD:0020803,GARD:0010865,Rare developmental defect during embryogenesis +GARD:0020838,GARD:0022513,GARD:0020804,GARD:0010592,Rare developmental defect during embryogenesis +GARD:0020838,GARD:0022531,GARD:0020804,GARD:0010592,Rare genetic disease +GARD:0020839,GARD:0022513,GARD:0020805,GARD:0021859,Rare developmental defect during embryogenesis +GARD:0020839,GARD:0022531,GARD:0020805,GARD:0021859,Rare genetic disease +GARD:0020839,GARD:0022513,GARD:0020805,GARD:0020777,Rare developmental defect during embryogenesis +GARD:0020839,GARD:0022513,GARD:0020805,GARD:0020778,Rare developmental defect during embryogenesis +GARD:0020839,GARD:0022513,GARD:0020805,GARD:0020787,Rare developmental defect during embryogenesis +GARD:0020839,GARD:0022531,GARD:0020805,GARD:0020787,Rare genetic disease +GARD:0020839,GARD:0022531,GARD:0020805,GARD:0020778,Rare genetic disease +GARD:0020839,GARD:0022531,GARD:0020805,GARD:0020777,Rare genetic disease +GARD:0020840,GARD:0022513,GARD:0019422,GARD:0020779,Rare developmental defect during embryogenesis +GARD:0020840,GARD:0022531,GARD:0019422,GARD:0020779,Rare genetic disease +GARD:0020840,GARD:0022513,GARD:0019422,GARD:0020947,Rare developmental defect during embryogenesis +GARD:0020840,GARD:0022531,GARD:0019422,GARD:0020947,Rare genetic disease +GARD:0020841,GARD:0022513,GARD:0019422,GARD:0017245,Rare developmental defect during embryogenesis +GARD:0020841,GARD:0022531,GARD:0019422,GARD:0010130,Rare genetic disease +GARD:0020841,GARD:0022513,GARD:0019422,GARD:0010299,Rare developmental defect during embryogenesis +GARD:0020841,GARD:0022531,GARD:0019422,GARD:0010299,Rare genetic disease +GARD:0020841,GARD:0022531,GARD:0019422,GARD:0017245,Rare genetic disease +GARD:0020841,GARD:0022513,GARD:0019422,GARD:0010130,Rare developmental defect during embryogenesis +GARD:0020842,GARD:0022513,GARD:0019420,GARD:0020919,Rare developmental defect during embryogenesis +GARD:0020842,GARD:0022531,GARD:0019420,GARD:0020919,Rare genetic disease +GARD:0020842,GARD:0022513,GARD:0019420,GARD:0020872,Rare developmental defect during embryogenesis +GARD:0020842,GARD:0022531,GARD:0019420,GARD:0020872,Rare genetic disease +GARD:0020843,GARD:0022531,GARD:0019420,GARD:0020859,Rare genetic disease +GARD:0020843,GARD:0022513,GARD:0019420,GARD:0020873,Rare developmental defect during embryogenesis +GARD:0020843,GARD:0022531,GARD:0019420,GARD:0020873,Rare genetic disease +GARD:0020843,GARD:0022513,GARD:0019420,GARD:0020859,Rare developmental defect during embryogenesis +GARD:0020844,GARD:0022531,GARD:0019420,GARD:0020874,Rare genetic disease +GARD:0020844,GARD:0022531,GARD:0019420,GARD:0020860,Rare genetic disease +GARD:0020844,GARD:0022513,GARD:0019420,GARD:0020874,Rare developmental defect during embryogenesis +GARD:0020844,GARD:0022513,GARD:0019420,GARD:0020860,Rare developmental defect during embryogenesis +GARD:0020845,GARD:0022531,GARD:0019420,GARD:0020861,Rare genetic disease +GARD:0020845,GARD:0022513,GARD:0019420,GARD:0020875,Rare developmental defect during embryogenesis +GARD:0020845,GARD:0022531,GARD:0019420,GARD:0020875,Rare genetic disease +GARD:0020845,GARD:0022513,GARD:0019420,GARD:0020861,Rare developmental defect during embryogenesis +GARD:0020846,GARD:0022513,GARD:0019420,GARD:0020862,Rare developmental defect during embryogenesis +GARD:0020846,GARD:0022531,GARD:0019420,GARD:0020876,Rare genetic disease +GARD:0020846,GARD:0022531,GARD:0019420,GARD:0020862,Rare genetic disease +GARD:0020846,GARD:0022513,GARD:0019420,GARD:0020876,Rare developmental defect during embryogenesis +GARD:0020847,GARD:0022531,GARD:0019420,GARD:0020877,Rare genetic disease +GARD:0020847,GARD:0022513,GARD:0019420,GARD:0020877,Rare developmental defect during embryogenesis +GARD:0020847,GARD:0022513,GARD:0019420,GARD:0020863,Rare developmental defect during embryogenesis +GARD:0020847,GARD:0022531,GARD:0019420,GARD:0020863,Rare genetic disease +GARD:0020848,GARD:0022531,GARD:0019420,GARD:0020878,Rare genetic disease +GARD:0020848,GARD:0022513,GARD:0019420,GARD:0020864,Rare developmental defect during embryogenesis +GARD:0020848,GARD:0022531,GARD:0019420,GARD:0020864,Rare genetic disease +GARD:0020848,GARD:0022513,GARD:0019420,GARD:0020878,Rare developmental defect during embryogenesis +GARD:0020849,GARD:0022513,GARD:0019420,GARD:0020865,Rare developmental defect during embryogenesis +GARD:0020849,GARD:0022531,GARD:0019420,GARD:0020865,Rare genetic disease +GARD:0020849,GARD:0022513,GARD:0019420,GARD:0020879,Rare developmental defect during embryogenesis +GARD:0020849,GARD:0022531,GARD:0019420,GARD:0020879,Rare genetic disease +GARD:0020850,GARD:0022531,GARD:0019420,GARD:0020880,Rare genetic disease +GARD:0020850,GARD:0022531,GARD:0019420,GARD:0020866,Rare genetic disease +GARD:0020850,GARD:0022513,GARD:0019420,GARD:0020866,Rare developmental defect during embryogenesis +GARD:0020850,GARD:0022513,GARD:0019420,GARD:0020880,Rare developmental defect during embryogenesis +GARD:0020851,GARD:0022513,GARD:0019420,GARD:0020881,Rare developmental defect during embryogenesis +GARD:0020851,GARD:0022531,GARD:0019420,GARD:0020881,Rare genetic disease +GARD:0020851,GARD:0022513,GARD:0019420,GARD:0020867,Rare developmental defect during embryogenesis +GARD:0020851,GARD:0022531,GARD:0019420,GARD:0020867,Rare genetic disease +GARD:0020852,GARD:0022513,GARD:0019420,GARD:0020882,Rare developmental defect during embryogenesis +GARD:0020852,GARD:0022531,GARD:0019420,GARD:0020868,Rare genetic disease +GARD:0020852,GARD:0022513,GARD:0019420,GARD:0020868,Rare developmental defect during embryogenesis +GARD:0020852,GARD:0022531,GARD:0019420,GARD:0020882,Rare genetic disease +GARD:0020853,GARD:0022513,GARD:0019420,GARD:0008421,Rare developmental defect during embryogenesis +GARD:0020853,GARD:0022513,GARD:0019420,GARD:0005305,Rare developmental defect during embryogenesis +GARD:0020853,GARD:0022531,GARD:0019420,GARD:0005305,Rare genetic disease +GARD:0020853,GARD:0022531,GARD:0019420,GARD:0008421,Rare genetic disease +GARD:0020854,GARD:0022531,GARD:0019420,GARD:0020869,Rare genetic disease +GARD:0020854,GARD:0022513,GARD:0019420,GARD:0020869,Rare developmental defect during embryogenesis +GARD:0020854,GARD:0022531,GARD:0019420,GARD:0020886,Rare genetic disease +GARD:0020854,GARD:0022513,GARD:0019420,GARD:0020886,Rare developmental defect during embryogenesis +GARD:0020855,GARD:0022531,GARD:0019420,GARD:0020887,Rare genetic disease +GARD:0020855,GARD:0022531,GARD:0019420,GARD:0020870,Rare genetic disease +GARD:0020855,GARD:0022513,GARD:0019420,GARD:0020887,Rare developmental defect during embryogenesis +GARD:0020855,GARD:0022513,GARD:0019420,GARD:0020870,Rare developmental defect during embryogenesis +GARD:0020856,GARD:0022531,GARD:0019420,GARD:0020888,Rare genetic disease +GARD:0020856,GARD:0022513,GARD:0019420,GARD:0020888,Rare developmental defect during embryogenesis +GARD:0020856,GARD:0022531,GARD:0019420,GARD:0020871,Rare genetic disease +GARD:0020856,GARD:0022513,GARD:0019420,GARD:0020871,Rare developmental defect during embryogenesis +GARD:0020857,GARD:0022531,GARD:0019420,GARD:0021876,Rare genetic disease +GARD:0020857,GARD:0022513,GARD:0019420,GARD:0020889,Rare developmental defect during embryogenesis +GARD:0020857,GARD:0022531,GARD:0019420,GARD:0020889,Rare genetic disease +GARD:0020857,GARD:0022513,GARD:0019420,GARD:0021876,Rare developmental defect during embryogenesis +GARD:0020858,GARD:0022513,GARD:0019420,GARD:0020890,Rare developmental defect during embryogenesis +GARD:0020858,GARD:0022513,GARD:0019420,GARD:0005333,Rare developmental defect during embryogenesis +GARD:0020858,GARD:0022531,GARD:0019420,GARD:0020890,Rare genetic disease +GARD:0020858,GARD:0022531,GARD:0019420,GARD:0005333,Rare genetic disease +GARD:0020859,GARD:0022513,GARD:0020843,GARD:0019304,Rare developmental defect during embryogenesis +GARD:0020859,GARD:0022531,GARD:0020843,GARD:0019304,Rare genetic disease +GARD:0020860,GARD:0022513,GARD:0020844,GARD:0019305,Rare developmental defect during embryogenesis +GARD:0020860,GARD:0022531,GARD:0020844,GARD:0019305,Rare genetic disease +GARD:0020861,GARD:0022531,GARD:0020845,GARD:0019306,Rare genetic disease +GARD:0020861,GARD:0022513,GARD:0020845,GARD:0006091,Rare developmental defect during embryogenesis +GARD:0020861,GARD:0022513,GARD:0020845,GARD:0019306,Rare developmental defect during embryogenesis +GARD:0020861,GARD:0022531,GARD:0020845,GARD:0006091,Rare genetic disease +GARD:0020862,GARD:0022513,GARD:0020846,GARD:0018792,Rare developmental defect during embryogenesis +GARD:0020862,GARD:0022531,GARD:0020846,GARD:0017505,Rare genetic disease +GARD:0020862,GARD:0022531,GARD:0020846,GARD:0018792,Rare genetic disease +GARD:0020862,GARD:0022513,GARD:0020846,GARD:0017505,Rare developmental defect during embryogenesis +GARD:0020862,GARD:0022531,GARD:0020846,GARD:0006093,Rare genetic disease +GARD:0020862,GARD:0022513,GARD:0020846,GARD:0006093,Rare developmental defect during embryogenesis +GARD:0020863,GARD:0022513,GARD:0020847,GARD:0018745,Rare developmental defect during embryogenesis +GARD:0020863,GARD:0022531,GARD:0020847,GARD:0018745,Rare genetic disease +GARD:0020864,GARD:0022531,GARD:0020848,GARD:0019307,Rare genetic disease +GARD:0020864,GARD:0022531,GARD:0020848,GARD:0020603,Rare genetic disease +GARD:0020864,GARD:0022513,GARD:0020848,GARD:0021367,Rare developmental defect during embryogenesis +GARD:0020864,GARD:0022531,GARD:0020848,GARD:0021367,Rare genetic disease +GARD:0020864,GARD:0022513,GARD:0020848,GARD:0019307,Rare developmental defect during embryogenesis +GARD:0020864,GARD:0022513,GARD:0020848,GARD:0020603,Rare developmental defect during embryogenesis +GARD:0020865,GARD:0022513,GARD:0020849,GARD:0020920,Rare developmental defect during embryogenesis +GARD:0020865,GARD:0022513,GARD:0020849,GARD:0010304,Rare developmental defect during embryogenesis +GARD:0020865,GARD:0022531,GARD:0020849,GARD:0010304,Rare genetic disease +GARD:0020865,GARD:0022531,GARD:0020849,GARD:0020920,Rare genetic disease +GARD:0020866,GARD:0022513,GARD:0020850,GARD:0018683,Rare developmental defect during embryogenesis +GARD:0020866,GARD:0022531,GARD:0020850,GARD:0018683,Rare genetic disease +GARD:0020866,GARD:0022513,GARD:0020850,GARD:0000042,Rare developmental defect during embryogenesis +GARD:0020866,GARD:0022531,GARD:0020850,GARD:0000042,Rare genetic disease +GARD:0020867,GARD:0022531,GARD:0020851,GARD:0005299,Rare genetic disease +GARD:0020867,GARD:0022513,GARD:0020851,GARD:0005299,Rare developmental defect during embryogenesis +GARD:0020868,GARD:0022531,GARD:0020852,GARD:0019308,Rare genetic disease +GARD:0020868,GARD:0022513,GARD:0020852,GARD:0019308,Rare developmental defect during embryogenesis +GARD:0020868,GARD:0022531,GARD:0020852,GARD:0020605,Rare genetic disease +GARD:0020868,GARD:0022513,GARD:0020852,GARD:0020605,Rare developmental defect during embryogenesis +GARD:0020868,GARD:0022531,GARD:0020852,GARD:0021232,Rare genetic disease +GARD:0020868,GARD:0022513,GARD:0020852,GARD:0021232,Rare developmental defect during embryogenesis +GARD:0020869,GARD:0022531,GARD:0020854,GARD:0012388,Rare genetic disease +GARD:0020869,GARD:0022531,GARD:0020854,GARD:0020775,Rare genetic disease +GARD:0020869,GARD:0022513,GARD:0020854,GARD:0020775,Rare developmental defect during embryogenesis +GARD:0020869,GARD:0022513,GARD:0020854,GARD:0012388,Rare developmental defect during embryogenesis +GARD:0020869,GARD:0022513,GARD:0020854,GARD:0010755,Rare developmental defect during embryogenesis +GARD:0020869,GARD:0022513,GARD:0020854,GARD:0020772,Rare developmental defect during embryogenesis +GARD:0020869,GARD:0022513,GARD:0020854,GARD:0021993,Rare developmental defect during embryogenesis +GARD:0020869,GARD:0022531,GARD:0020854,GARD:0010755,Rare genetic disease +GARD:0020869,GARD:0022531,GARD:0020854,GARD:0020772,Rare genetic disease +GARD:0020869,GARD:0022531,GARD:0020854,GARD:0021993,Rare genetic disease +GARD:0020870,GARD:0022531,GARD:0020855,GARD:0010145,Rare genetic disease +GARD:0020870,GARD:0022513,GARD:0020855,GARD:0017122,Rare developmental defect during embryogenesis +GARD:0020870,GARD:0022531,GARD:0020855,GARD:0005318,Rare genetic disease +GARD:0020870,GARD:0022531,GARD:0020855,GARD:0017122,Rare genetic disease +GARD:0020870,GARD:0022513,GARD:0020855,GARD:0010145,Rare developmental defect during embryogenesis +GARD:0020870,GARD:0022513,GARD:0020855,GARD:0005318,Rare developmental defect during embryogenesis +GARD:0020870,GARD:0022531,GARD:0020855,GARD:0001245,Rare genetic disease +GARD:0020870,GARD:0022513,GARD:0020855,GARD:0001245,Rare developmental defect during embryogenesis +GARD:0020871,GARD:0022513,GARD:0020856,GARD:0005323,Rare developmental defect during embryogenesis +GARD:0020871,GARD:0022513,GARD:0020856,GARD:0000035,Rare developmental defect during embryogenesis +GARD:0020871,GARD:0022531,GARD:0020856,GARD:0005323,Rare genetic disease +GARD:0020871,GARD:0022531,GARD:0020856,GARD:0000035,Rare genetic disease +GARD:0020872,GARD:0022531,GARD:0020842,GARD:0010591,Rare genetic disease +GARD:0020872,GARD:0022513,GARD:0020842,GARD:0020781,Rare developmental defect during embryogenesis +GARD:0020872,GARD:0022531,GARD:0020842,GARD:0020781,Rare genetic disease +GARD:0020872,GARD:0022513,GARD:0020842,GARD:0010591,Rare developmental defect during embryogenesis +GARD:0020873,GARD:0022513,GARD:0020843,GARD:0019310,Rare developmental defect during embryogenesis +GARD:0020873,GARD:0022513,GARD:0020843,GARD:0021175,Rare developmental defect during embryogenesis +GARD:0020873,GARD:0022513,GARD:0020843,GARD:0021363,Rare developmental defect during embryogenesis +GARD:0020873,GARD:0022531,GARD:0020843,GARD:0021175,Rare genetic disease +GARD:0020873,GARD:0022531,GARD:0020843,GARD:0021363,Rare genetic disease +GARD:0020873,GARD:0022531,GARD:0020843,GARD:0019310,Rare genetic disease +GARD:0020874,GARD:0022531,GARD:0020844,GARD:0019311,Rare genetic disease +GARD:0020874,GARD:0022513,GARD:0020844,GARD:0019311,Rare developmental defect during embryogenesis +GARD:0020874,GARD:0022531,GARD:0020844,GARD:0010360,Rare genetic disease +GARD:0020874,GARD:0022513,GARD:0020844,GARD:0010360,Rare developmental defect during embryogenesis +GARD:0020875,GARD:0022531,GARD:0020845,GARD:0019312,Rare genetic disease +GARD:0020875,GARD:0022513,GARD:0020845,GARD:0019312,Rare developmental defect during embryogenesis +GARD:0020876,GARD:0022531,GARD:0020846,GARD:0010587,Rare genetic disease +GARD:0020876,GARD:0022531,GARD:0020846,GARD:0019313,Rare genetic disease +GARD:0020876,GARD:0022531,GARD:0020846,GARD:0020595,Rare genetic disease +GARD:0020876,GARD:0022513,GARD:0020846,GARD:0019313,Rare developmental defect during embryogenesis +GARD:0020876,GARD:0022513,GARD:0020846,GARD:0010587,Rare developmental defect during embryogenesis +GARD:0020876,GARD:0022513,GARD:0020846,GARD:0020595,Rare developmental defect during embryogenesis +GARD:0020877,GARD:0022531,GARD:0020847,GARD:0019314,Rare genetic disease +GARD:0020877,GARD:0022513,GARD:0020847,GARD:0019314,Rare developmental defect during embryogenesis +GARD:0020878,GARD:0022531,GARD:0020848,GARD:0020770,Rare genetic disease +GARD:0020878,GARD:0022513,GARD:0020848,GARD:0020770,Rare developmental defect during embryogenesis +GARD:0020878,GARD:0022513,GARD:0020848,GARD:0012076,Rare developmental defect during embryogenesis +GARD:0020878,GARD:0022531,GARD:0020848,GARD:0012076,Rare genetic disease +GARD:0020879,GARD:0022513,GARD:0020849,GARD:0019315,Rare developmental defect during embryogenesis +GARD:0020879,GARD:0022531,GARD:0020849,GARD:0005362,Rare genetic disease +GARD:0020879,GARD:0022531,GARD:0020849,GARD:0012816,Rare genetic disease +GARD:0020879,GARD:0022513,GARD:0020849,GARD:0012816,Rare developmental defect during embryogenesis +GARD:0020879,GARD:0022513,GARD:0020849,GARD:0005362,Rare developmental defect during embryogenesis +GARD:0020879,GARD:0022531,GARD:0020849,GARD:0019315,Rare genetic disease +GARD:0020880,GARD:0022531,GARD:0020850,GARD:0019323,Rare genetic disease +GARD:0020880,GARD:0022513,GARD:0020850,GARD:0019316,Rare developmental defect during embryogenesis +GARD:0020880,GARD:0022531,GARD:0020850,GARD:0019316,Rare genetic disease +GARD:0020880,GARD:0022513,GARD:0020850,GARD:0019323,Rare developmental defect during embryogenesis +GARD:0020881,GARD:0022531,GARD:0020851,GARD:0003252,Rare genetic disease +GARD:0020881,GARD:0022513,GARD:0020851,GARD:0003252,Rare developmental defect during embryogenesis +GARD:0020881,GARD:0022513,GARD:0020851,GARD:0018737,Rare developmental defect during embryogenesis +GARD:0020881,GARD:0022513,GARD:0020851,GARD:0021052,Rare developmental defect during embryogenesis +GARD:0020881,GARD:0022531,GARD:0020851,GARD:0019317,Rare genetic disease +GARD:0020881,GARD:0022531,GARD:0020851,GARD:0018737,Rare genetic disease +GARD:0020881,GARD:0022513,GARD:0020851,GARD:0019317,Rare developmental defect during embryogenesis +GARD:0020881,GARD:0022531,GARD:0020851,GARD:0021052,Rare genetic disease +GARD:0020882,GARD:0022513,GARD:0020852,GARD:0021142,Rare developmental defect during embryogenesis +GARD:0020882,GARD:0022531,GARD:0020852,GARD:0019318,Rare genetic disease +GARD:0020882,GARD:0022531,GARD:0020852,GARD:0021142,Rare genetic disease +GARD:0020882,GARD:0022513,GARD:0020852,GARD:0019318,Rare developmental defect during embryogenesis +GARD:0020883,GARD:0022513,GARD:0019420,GARD:0019319,Rare developmental defect during embryogenesis +GARD:0020883,GARD:0022531,GARD:0019420,GARD:0018738,Rare genetic disease +GARD:0020883,GARD:0022531,GARD:0019420,GARD:0019319,Rare genetic disease +GARD:0020883,GARD:0022513,GARD:0019420,GARD:0018738,Rare developmental defect during embryogenesis +GARD:0020884,GARD:0022531,GARD:0019420,GARD:0017890,Rare genetic disease +GARD:0020884,GARD:0022531,GARD:0019420,GARD:0018739,Rare genetic disease +GARD:0020884,GARD:0022513,GARD:0019420,GARD:0017890,Rare developmental defect during embryogenesis +GARD:0020884,GARD:0022513,GARD:0019420,GARD:0018739,Rare developmental defect during embryogenesis +GARD:0020884,GARD:0022531,GARD:0019420,GARD:0020773,Rare genetic disease +GARD:0020884,GARD:0022513,GARD:0019420,GARD:0020773,Rare developmental defect during embryogenesis +GARD:0020885,GARD:0022531,GARD:0019420,GARD:0017172,Rare genetic disease +GARD:0020885,GARD:0022513,GARD:0019420,GARD:0017172,Rare developmental defect during embryogenesis +GARD:0020885,GARD:0022513,GARD:0019420,GARD:0017423,Rare developmental defect during embryogenesis +GARD:0020885,GARD:0022531,GARD:0019420,GARD:0017423,Rare genetic disease +GARD:0020886,GARD:0022513,GARD:0020854,GARD:0019320,Rare developmental defect during embryogenesis +GARD:0020886,GARD:0022531,GARD:0020854,GARD:0019320,Rare genetic disease +GARD:0020887,GARD:0022531,GARD:0020855,GARD:0017177,Rare genetic disease +GARD:0020887,GARD:0022531,GARD:0020855,GARD:0017859,Rare genetic disease +GARD:0020887,GARD:0022531,GARD:0020855,GARD:0017121,Rare genetic disease +GARD:0020887,GARD:0022531,GARD:0020855,GARD:0018794,Rare genetic disease +GARD:0020887,GARD:0022513,GARD:0020855,GARD:0016952,Rare developmental defect during embryogenesis +GARD:0020887,GARD:0022531,GARD:0020855,GARD:0016952,Rare genetic disease +GARD:0020887,GARD:0022531,GARD:0020855,GARD:0013296,Rare genetic disease +GARD:0020887,GARD:0022513,GARD:0020855,GARD:0018794,Rare developmental defect during embryogenesis +GARD:0020887,GARD:0022513,GARD:0020855,GARD:0013296,Rare developmental defect during embryogenesis +GARD:0020887,GARD:0022513,GARD:0020855,GARD:0017859,Rare developmental defect during embryogenesis +GARD:0020887,GARD:0022513,GARD:0020855,GARD:0017121,Rare developmental defect during embryogenesis +GARD:0020887,GARD:0022513,GARD:0020855,GARD:0017177,Rare developmental defect during embryogenesis +GARD:0020888,GARD:0022513,GARD:0020856,GARD:0018742,Rare developmental defect during embryogenesis +GARD:0020888,GARD:0022531,GARD:0020856,GARD:0018742,Rare genetic disease +GARD:0020889,GARD:0022513,GARD:0020857,GARD:0018743,Rare developmental defect during embryogenesis +GARD:0020889,GARD:0022531,GARD:0020857,GARD:0018743,Rare genetic disease +GARD:0020890,GARD:0022513,GARD:0020858,GARD:0021556,Rare developmental defect during embryogenesis +GARD:0020890,GARD:0022531,GARD:0020858,GARD:0019321,Rare genetic disease +GARD:0020890,GARD:0022513,GARD:0020858,GARD:0019321,Rare developmental defect during embryogenesis +GARD:0020890,GARD:0022531,GARD:0020858,GARD:0021556,Rare genetic disease +GARD:0020891,GARD:0022513,GARD:0019420,GARD:0020780,Rare developmental defect during embryogenesis +GARD:0020891,GARD:0022513,GARD:0019420,GARD:0019322,Rare developmental defect during embryogenesis +GARD:0020891,GARD:0022531,GARD:0019420,GARD:0020780,Rare genetic disease +GARD:0020891,GARD:0022513,GARD:0019420,GARD:0010557,Rare developmental defect during embryogenesis +GARD:0020891,GARD:0022531,GARD:0019420,GARD:0010557,Rare genetic disease +GARD:0020891,GARD:0022531,GARD:0019420,GARD:0019322,Rare genetic disease +GARD:0020892,GARD:0022535,GARD:0016922,,Rare neoplastic disease +GARD:0020893,GARD:0022535,GARD:0016922,,Rare neoplastic disease +GARD:0020894,GARD:0022535,GARD:0016922,,Rare neoplastic disease +GARD:0020895,GARD:0022521,GARD:0019696,,Rare endocrine disease +GARD:0020895,GARD:0022535,GARD:0019696,,Rare neoplastic disease +GARD:0020896,GARD:0022535,GARD:0019696,,Rare neoplastic disease +GARD:0020896,GARD:0022521,GARD:0019696,,Rare endocrine disease +GARD:0020897,GARD:0022535,GARD:0019696,,Rare neoplastic disease +GARD:0020897,GARD:0022521,GARD:0019696,,Rare endocrine disease +GARD:0020898,GARD:0022515,GARD:0022515,,Rare cardiac disease +GARD:0020899,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0020899,GARD:0022531,GARD:0021231,,Rare genetic disease +GARD:0020899,GARD:0022508,GARD:0021231,,Rare inborn errors of metabolism +GARD:0020899,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0020900,GARD:0022513,GARD:0020458,,Rare developmental defect during embryogenesis +GARD:0020900,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0020900,GARD:0022527,GARD:0020458,,Rare circulatory system disease +GARD:0020900,GARD:0022535,GARD:0020458,,Rare neoplastic disease +GARD:0020901,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0020901,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0020902,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0020902,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0020903,GARD:0022521,GARD:0020067,,Rare endocrine disease +GARD:0020903,GARD:0022531,GARD:0020067,,Rare genetic disease +GARD:0020903,GARD:0022513,GARD:0020067,,Rare developmental defect during embryogenesis +GARD:0020904,GARD:0022531,GARD:0012862,,Rare genetic disease +GARD:0020904,GARD:0022510,GARD:0012862,,Rare skin disease +GARD:0020905,GARD:0022516,GARD:0022516,,Rare gastroenterologic disease +GARD:0020906,GARD:0022513,GARD:0019417,GARD:0021583,Rare developmental defect during embryogenesis +GARD:0020906,GARD:0022531,GARD:0019417,GARD:0021583,Rare genetic disease +GARD:0020906,GARD:0022531,GARD:0019417,GARD:0000026,Rare genetic disease +GARD:0020906,GARD:0022531,GARD:0019417,GARD:0019309,Rare genetic disease +GARD:0020906,GARD:0022531,GARD:0019417,GARD:0005153,Rare genetic disease +GARD:0020906,GARD:0022513,GARD:0019417,GARD:0020602,Rare developmental defect during embryogenesis +GARD:0020906,GARD:0022513,GARD:0019417,GARD:0019309,Rare developmental defect during embryogenesis +GARD:0020906,GARD:0022531,GARD:0019417,GARD:0020602,Rare genetic disease +GARD:0020906,GARD:0022531,GARD:0019417,GARD:0009835,Rare genetic disease +GARD:0020906,GARD:0022531,GARD:0019417,GARD:0009698,Rare genetic disease +GARD:0020906,GARD:0022531,GARD:0019417,GARD:0022032,Rare genetic disease +GARD:0020906,GARD:0022513,GARD:0019417,GARD:0005153,Rare developmental defect during embryogenesis +GARD:0020906,GARD:0022513,GARD:0019417,GARD:0000026,Rare developmental defect during embryogenesis +GARD:0020906,GARD:0022513,GARD:0019417,GARD:0009698,Rare developmental defect during embryogenesis +GARD:0020906,GARD:0022513,GARD:0019417,GARD:0009835,Rare developmental defect during embryogenesis +GARD:0020906,GARD:0022513,GARD:0019417,GARD:0022032,Rare developmental defect during embryogenesis +GARD:0020907,GARD:0022513,GARD:0019427,GARD:0020909,Rare developmental defect during embryogenesis +GARD:0020907,GARD:0022513,GARD:0019427,GARD:0020908,Rare developmental defect during embryogenesis +GARD:0020907,GARD:0022531,GARD:0019427,GARD:0020909,Rare genetic disease +GARD:0020907,GARD:0022531,GARD:0019427,GARD:0020908,Rare genetic disease +GARD:0020908,GARD:0022531,GARD:0020907,GARD:0020910,Rare genetic disease +GARD:0020908,GARD:0022513,GARD:0020907,GARD:0007831,Rare developmental defect during embryogenesis +GARD:0020908,GARD:0022531,GARD:0020907,GARD:0007831,Rare genetic disease +GARD:0020908,GARD:0022513,GARD:0020907,GARD:0020910,Rare developmental defect during embryogenesis +GARD:0020909,GARD:0022513,GARD:0020907,GARD:0005679,Rare developmental defect during embryogenesis +GARD:0020909,GARD:0022513,GARD:0020907,GARD:0005676,Rare developmental defect during embryogenesis +GARD:0020909,GARD:0022531,GARD:0020907,GARD:0005676,Rare genetic disease +GARD:0020909,GARD:0022531,GARD:0020907,GARD:0005679,Rare genetic disease +GARD:0020910,GARD:0022531,GARD:0020908,GARD:0005672,Rare genetic disease +GARD:0020910,GARD:0022531,GARD:0020908,GARD:0007754,Rare genetic disease +GARD:0020910,GARD:0022513,GARD:0020908,GARD:0005672,Rare developmental defect during embryogenesis +GARD:0020910,GARD:0022531,GARD:0020908,GARD:0005678,Rare genetic disease +GARD:0020910,GARD:0022513,GARD:0020908,GARD:0005678,Rare developmental defect during embryogenesis +GARD:0020910,GARD:0022513,GARD:0020908,GARD:0007754,Rare developmental defect during embryogenesis +GARD:0020911,GARD:0022513,GARD:0019430,GARD:0020912,Rare developmental defect during embryogenesis +GARD:0020911,GARD:0022513,GARD:0019430,GARD:0020915,Rare developmental defect during embryogenesis +GARD:0020911,GARD:0022531,GARD:0019430,GARD:0020912,Rare genetic disease +GARD:0020911,GARD:0022531,GARD:0019430,GARD:0020915,Rare genetic disease +GARD:0020912,GARD:0022531,GARD:0020911,GARD:0020782,Rare genetic disease +GARD:0020912,GARD:0022513,GARD:0020911,GARD:0018733,Rare developmental defect during embryogenesis +GARD:0020912,GARD:0022513,GARD:0020911,GARD:0020782,Rare developmental defect during embryogenesis +GARD:0020912,GARD:0022531,GARD:0020911,GARD:0018733,Rare genetic disease +GARD:0020912,GARD:0022513,GARD:0020911,GARD:0017246,Rare developmental defect during embryogenesis +GARD:0020912,GARD:0022531,GARD:0020911,GARD:0008360,Rare genetic disease +GARD:0020912,GARD:0022513,GARD:0020911,GARD:0008360,Rare developmental defect during embryogenesis +GARD:0020912,GARD:0022531,GARD:0020911,GARD:0017246,Rare genetic disease +GARD:0020913,GARD:0022531,GARD:0019427,GARD:0011985,Rare genetic disease +GARD:0020913,GARD:0022531,GARD:0019427,GARD:0018747,Rare genetic disease +GARD:0020913,GARD:0022531,GARD:0019427,GARD:0019679,Rare genetic disease +GARD:0020913,GARD:0022513,GARD:0019427,GARD:0018747,Rare developmental defect during embryogenesis +GARD:0020913,GARD:0022531,GARD:0019427,GARD:0005674,Rare genetic disease +GARD:0020913,GARD:0022513,GARD:0019427,GARD:0005674,Rare developmental defect during embryogenesis +GARD:0020913,GARD:0022513,GARD:0019427,GARD:0011985,Rare developmental defect during embryogenesis +GARD:0020913,GARD:0022513,GARD:0019427,GARD:0019679,Rare developmental defect during embryogenesis +GARD:0020914,GARD:0022513,GARD:0019427,GARD:0005677,Rare developmental defect during embryogenesis +GARD:0020914,GARD:0022513,GARD:0019427,GARD:0020332,Rare developmental defect during embryogenesis +GARD:0020914,GARD:0022531,GARD:0019427,GARD:0020332,Rare genetic disease +GARD:0020914,GARD:0022531,GARD:0019427,GARD:0005677,Rare genetic disease +GARD:0020914,GARD:0022513,GARD:0019427,GARD:0010922,Rare developmental defect during embryogenesis +GARD:0020914,GARD:0022531,GARD:0019427,GARD:0010922,Rare genetic disease +GARD:0020915,GARD:0022513,GARD:0020911,GARD:0002432,Rare developmental defect during embryogenesis +GARD:0020915,GARD:0022513,GARD:0020911,GARD:0016761,Rare developmental defect during embryogenesis +GARD:0020915,GARD:0022513,GARD:0020911,GARD:0017792,Rare developmental defect during embryogenesis +GARD:0020915,GARD:0022531,GARD:0020911,GARD:0016761,Rare genetic disease +GARD:0020915,GARD:0022531,GARD:0020911,GARD:0002432,Rare genetic disease +GARD:0020915,GARD:0022531,GARD:0020911,GARD:0017792,Rare genetic disease +GARD:0020916,GARD:0022513,GARD:0019430,GARD:0020917,Rare developmental defect during embryogenesis +GARD:0020916,GARD:0022513,GARD:0019430,GARD:0012421,Rare developmental defect during embryogenesis +GARD:0020916,GARD:0022531,GARD:0019430,GARD:0020917,Rare genetic disease +GARD:0020916,GARD:0022531,GARD:0019430,GARD:0012421,Rare genetic disease +GARD:0020917,GARD:0022531,GARD:0020916,GARD:0017350,Rare genetic disease +GARD:0020917,GARD:0022513,GARD:0020916,GARD:0017247,Rare developmental defect during embryogenesis +GARD:0020917,GARD:0022513,GARD:0020916,GARD:0017955,Rare developmental defect during embryogenesis +GARD:0020917,GARD:0022513,GARD:0020916,GARD:0021369,Rare developmental defect during embryogenesis +GARD:0020917,GARD:0022513,GARD:0020916,GARD:0017350,Rare developmental defect during embryogenesis +GARD:0020917,GARD:0022531,GARD:0020916,GARD:0009781,Rare genetic disease +GARD:0020917,GARD:0022531,GARD:0020916,GARD:0021369,Rare genetic disease +GARD:0020917,GARD:0022513,GARD:0020916,GARD:0009781,Rare developmental defect during embryogenesis +GARD:0020917,GARD:0022531,GARD:0020916,GARD:0017247,Rare genetic disease +GARD:0020917,GARD:0022531,GARD:0020916,GARD:0017955,Rare genetic disease +GARD:0020918,GARD:0022531,GARD:0019430,GARD:0020783,Rare genetic disease +GARD:0020918,GARD:0022513,GARD:0019430,GARD:0020784,Rare developmental defect during embryogenesis +GARD:0020918,GARD:0022531,GARD:0019430,GARD:0020784,Rare genetic disease +GARD:0020918,GARD:0022513,GARD:0019430,GARD:0020783,Rare developmental defect during embryogenesis +GARD:0020919,GARD:0022513,GARD:0020842,GARD:0019303,Rare developmental defect during embryogenesis +GARD:0020919,GARD:0022531,GARD:0020842,GARD:0019303,Rare genetic disease +GARD:0020920,GARD:0022513,GARD:0020865,,Rare developmental defect during embryogenesis +GARD:0020920,GARD:0022531,GARD:0020865,,Rare genetic disease +GARD:0020921,GARD:0022517,GARD:0020244,GARD:0010559,Rare respiratory disease +GARD:0020921,GARD:0022517,GARD:0020244,GARD:0020926,Rare respiratory disease +GARD:0020921,GARD:0022536,GARD:0020244,GARD:0020926,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020921,GARD:0022536,GARD:0020244,GARD:0010559,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020922,GARD:0022536,GARD:0010559,GARD:0000112,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020922,GARD:0022536,GARD:0010559,GARD:0017377,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020922,GARD:0022536,GARD:0010559,GARD:0019746,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020922,GARD:0022517,GARD:0010559,GARD:0019746,Rare respiratory disease +GARD:0020922,GARD:0022517,GARD:0010559,GARD:0000112,Rare respiratory disease +GARD:0020922,GARD:0022517,GARD:0010559,GARD:0017377,Rare respiratory disease +GARD:0020923,GARD:0022517,GARD:0010559,GARD:0009900,Rare respiratory disease +GARD:0020923,GARD:0022536,GARD:0010559,GARD:0009900,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020923,GARD:0022517,GARD:0010559,GARD:0000184,Rare respiratory disease +GARD:0020923,GARD:0022517,GARD:0010559,GARD:0008644,Rare respiratory disease +GARD:0020923,GARD:0022536,GARD:0010559,GARD:0008644,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020923,GARD:0022536,GARD:0010559,GARD:0020924,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020923,GARD:0022517,GARD:0010559,GARD:0021523,Rare respiratory disease +GARD:0020923,GARD:0022536,GARD:0010559,GARD:0021523,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020923,GARD:0022517,GARD:0010559,GARD:0010156,Rare respiratory disease +GARD:0020923,GARD:0022517,GARD:0010559,GARD:0020924,Rare respiratory disease +GARD:0020923,GARD:0022536,GARD:0010559,GARD:0000184,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020923,GARD:0022536,GARD:0010559,GARD:0010156,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020924,GARD:0022517,GARD:0020923,,Rare respiratory disease +GARD:0020924,GARD:0022536,GARD:0020923,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020925,GARD:0022536,GARD:0010559,GARD:0019166,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020925,GARD:0022536,GARD:0010559,GARD:0020517,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020925,GARD:0022536,GARD:0010559,GARD:0020516,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020925,GARD:0022517,GARD:0010559,GARD:0019166,Rare respiratory disease +GARD:0020925,GARD:0022517,GARD:0010559,GARD:0022487,Rare respiratory disease +GARD:0020925,GARD:0022517,GARD:0010559,GARD:0020517,Rare respiratory disease +GARD:0020925,GARD:0022517,GARD:0010559,GARD:0020516,Rare respiratory disease +GARD:0020925,GARD:0022536,GARD:0010559,GARD:0022487,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020926,GARD:0022536,GARD:0020921,GARD:0022463,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020926,GARD:0022517,GARD:0020921,GARD:0020930,Rare respiratory disease +GARD:0020926,GARD:0022536,GARD:0020921,GARD:0017762,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020926,GARD:0022517,GARD:0020921,GARD:0022463,Rare respiratory disease +GARD:0020926,GARD:0022536,GARD:0020921,GARD:0020928,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020926,GARD:0022517,GARD:0020921,GARD:0020928,Rare respiratory disease +GARD:0020926,GARD:0022536,GARD:0020921,GARD:0020927,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020926,GARD:0022517,GARD:0020921,GARD:0020927,Rare respiratory disease +GARD:0020926,GARD:0022517,GARD:0020921,GARD:0020929,Rare respiratory disease +GARD:0020926,GARD:0022536,GARD:0020921,GARD:0020929,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020926,GARD:0022517,GARD:0020921,GARD:0017762,Rare respiratory disease +GARD:0020926,GARD:0022536,GARD:0020921,GARD:0020930,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020927,GARD:0022536,GARD:0020926,GARD:0012742,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020927,GARD:0022536,GARD:0020926,GARD:0018677,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020927,GARD:0022517,GARD:0020926,GARD:0012742,Rare respiratory disease +GARD:0020927,GARD:0022517,GARD:0020926,GARD:0006805,Rare respiratory disease +GARD:0020927,GARD:0022536,GARD:0020926,GARD:0006805,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020927,GARD:0022536,GARD:0020926,GARD:0019219,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020927,GARD:0022517,GARD:0020926,GARD:0019219,Rare respiratory disease +GARD:0020927,GARD:0022517,GARD:0020926,GARD:0018677,Rare respiratory disease +GARD:0020928,GARD:0022536,GARD:0020926,GARD:0008204,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020928,GARD:0022517,GARD:0020926,GARD:0008204,Rare respiratory disease +GARD:0020929,GARD:0022536,GARD:0020926,GARD:0000304,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020929,GARD:0022536,GARD:0020926,GARD:0006100,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020929,GARD:0022517,GARD:0020926,GARD:0000304,Rare respiratory disease +GARD:0020929,GARD:0022517,GARD:0020926,GARD:0006100,Rare respiratory disease +GARD:0020930,GARD:0022536,GARD:0020926,GARD:0017168,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020930,GARD:0022517,GARD:0020926,GARD:0022457,Rare respiratory disease +GARD:0020930,GARD:0022536,GARD:0020926,GARD:0002442,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020930,GARD:0022517,GARD:0020926,GARD:0010828,Rare respiratory disease +GARD:0020930,GARD:0022536,GARD:0020926,GARD:0022457,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020930,GARD:0022517,GARD:0020926,GARD:0002443,Rare respiratory disease +GARD:0020930,GARD:0022517,GARD:0020926,GARD:0017168,Rare respiratory disease +GARD:0020930,GARD:0022536,GARD:0020926,GARD:0010828,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020930,GARD:0022536,GARD:0020926,GARD:0002443,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020930,GARD:0022517,GARD:0020926,GARD:0002442,Rare respiratory disease +GARD:0020931,GARD:0022517,GARD:0020244,GARD:0020933,Rare respiratory disease +GARD:0020931,GARD:0022536,GARD:0020244,GARD:0020933,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020931,GARD:0022536,GARD:0020244,GARD:0020932,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020931,GARD:0022517,GARD:0020244,GARD:0020932,Rare respiratory disease +GARD:0020932,GARD:0022536,GARD:0020931,GARD:0018902,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020932,GARD:0022517,GARD:0020931,GARD:0003319,Rare respiratory disease +GARD:0020932,GARD:0022536,GARD:0020931,GARD:0013218,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020932,GARD:0022536,GARD:0020931,GARD:0013337,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020932,GARD:0022517,GARD:0020931,GARD:0007499,Rare respiratory disease +GARD:0020932,GARD:0022517,GARD:0020931,GARD:0013218,Rare respiratory disease +GARD:0020932,GARD:0022536,GARD:0020931,GARD:0003319,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020932,GARD:0022536,GARD:0020931,GARD:0007499,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020932,GARD:0022536,GARD:0020931,GARD:0002322,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020932,GARD:0022517,GARD:0020931,GARD:0020245,Rare respiratory disease +GARD:0020932,GARD:0022536,GARD:0020931,GARD:0010780,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020932,GARD:0022536,GARD:0020931,GARD:0020245,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020932,GARD:0022536,GARD:0020931,GARD:0020449,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020932,GARD:0022517,GARD:0020931,GARD:0020449,Rare respiratory disease +GARD:0020932,GARD:0022517,GARD:0020931,GARD:0018902,Rare respiratory disease +GARD:0020932,GARD:0022517,GARD:0020931,GARD:0002322,Rare respiratory disease +GARD:0020932,GARD:0022517,GARD:0020931,GARD:0013337,Rare respiratory disease +GARD:0020932,GARD:0022517,GARD:0020931,GARD:0010780,Rare respiratory disease +GARD:0020933,GARD:0022536,GARD:0020931,GARD:0007607,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020933,GARD:0022536,GARD:0020931,GARD:0000735,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020933,GARD:0022517,GARD:0020931,GARD:0000735,Rare respiratory disease +GARD:0020933,GARD:0022517,GARD:0020931,GARD:0007607,Rare respiratory disease +GARD:0020934,GARD:0022536,GARD:0020244,GARD:0020935,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020934,GARD:0022517,GARD:0020244,GARD:0020935,Rare respiratory disease +GARD:0020934,GARD:0022536,GARD:0020244,GARD:0020938,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020934,GARD:0022517,GARD:0020244,GARD:0020938,Rare respiratory disease +GARD:0020935,GARD:0022536,GARD:0020934,GARD:0020936,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020935,GARD:0022517,GARD:0020934,GARD:0020937,Rare respiratory disease +GARD:0020935,GARD:0022517,GARD:0020934,GARD:0020936,Rare respiratory disease +GARD:0020935,GARD:0022536,GARD:0020934,GARD:0020937,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020935,GARD:0022536,GARD:0020934,GARD:0006763,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020935,GARD:0022517,GARD:0020934,GARD:0006763,Rare respiratory disease +GARD:0020936,GARD:0022517,GARD:0020935,GARD:0017744,Rare respiratory disease +GARD:0020936,GARD:0022536,GARD:0020935,GARD:0017744,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020936,GARD:0022536,GARD:0020935,GARD:0017127,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020936,GARD:0022517,GARD:0020935,GARD:0017127,Rare respiratory disease +GARD:0020937,GARD:0022517,GARD:0020935,GARD:0020246,Rare respiratory disease +GARD:0020937,GARD:0022536,GARD:0020935,GARD:0020246,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020938,GARD:0022517,GARD:0020934,GARD:0021744,Rare respiratory disease +GARD:0020938,GARD:0022536,GARD:0020934,GARD:0021744,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020938,GARD:0022536,GARD:0020934,GARD:0020939,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020938,GARD:0022517,GARD:0020934,GARD:0019713,Rare respiratory disease +GARD:0020938,GARD:0022536,GARD:0020934,GARD:0020943,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020938,GARD:0022517,GARD:0020934,GARD:0020943,Rare respiratory disease +GARD:0020938,GARD:0022536,GARD:0020934,GARD:0019713,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020938,GARD:0022517,GARD:0020934,GARD:0020939,Rare respiratory disease +GARD:0020939,GARD:0022536,GARD:0020938,GARD:0020941,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020939,GARD:0022517,GARD:0020938,GARD:0020940,Rare respiratory disease +GARD:0020939,GARD:0022517,GARD:0020938,GARD:0002551,Rare respiratory disease +GARD:0020939,GARD:0022536,GARD:0020938,GARD:0002551,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020939,GARD:0022536,GARD:0020938,GARD:0020940,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020939,GARD:0022517,GARD:0020938,GARD:0020247,Rare respiratory disease +GARD:0020939,GARD:0022536,GARD:0020938,GARD:0020247,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020939,GARD:0022517,GARD:0020938,GARD:0020941,Rare respiratory disease +GARD:0020940,GARD:0022536,GARD:0020939,GARD:0002441,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020940,GARD:0022536,GARD:0020939,GARD:0007207,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020940,GARD:0022517,GARD:0020939,GARD:0002441,Rare respiratory disease +GARD:0020940,GARD:0022517,GARD:0020939,GARD:0007207,Rare respiratory disease +GARD:0020941,GARD:0022536,GARD:0020939,GARD:0013011,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020941,GARD:0022517,GARD:0020939,GARD:0013011,Rare respiratory disease +GARD:0020941,GARD:0022517,GARD:0020939,GARD:0006386,Rare respiratory disease +GARD:0020941,GARD:0022536,GARD:0020939,GARD:0006386,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020942,GARD:0022517,GARD:0020943,,Rare respiratory disease +GARD:0020942,GARD:0022536,GARD:0020943,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020943,GARD:0022517,GARD:0020938,GARD:0000012,Rare respiratory disease +GARD:0020943,GARD:0022536,GARD:0020938,GARD:0000012,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020943,GARD:0022517,GARD:0020938,GARD:0020942,Rare respiratory disease +GARD:0020943,GARD:0022536,GARD:0020938,GARD:0020942,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0020944,GARD:0022531,GARD:0020007,GARD:0017377,Rare genetic disease +GARD:0020944,GARD:0022531,GARD:0020007,GARD:0016947,Rare genetic disease +GARD:0020944,GARD:0022531,GARD:0020007,GARD:0017744,Rare genetic disease +GARD:0020944,GARD:0022531,GARD:0020007,GARD:0021523,Rare genetic disease +GARD:0020944,GARD:0022531,GARD:0020007,GARD:0022487,Rare genetic disease +GARD:0020944,GARD:0022531,GARD:0020007,GARD:0019746,Rare genetic disease +GARD:0020944,GARD:0022531,GARD:0020007,GARD:0013218,Rare genetic disease +GARD:0020944,GARD:0022531,GARD:0020007,GARD:0009900,Rare genetic disease +GARD:0020944,GARD:0022531,GARD:0020007,GARD:0022457,Rare genetic disease +GARD:0020944,GARD:0022531,GARD:0020007,GARD:0008644,Rare genetic disease +GARD:0020944,GARD:0022531,GARD:0020007,GARD:0017762,Rare genetic disease +GARD:0020944,GARD:0022531,GARD:0020007,GARD:0017127,Rare genetic disease +GARD:0020945,GARD:0022535,GARD:0019795,,Rare neoplastic disease +GARD:0020945,GARD:0022520,GARD:0019795,,Rare ophthalmic disorder +GARD:0020946,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0020946,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0020946,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0020947,GARD:0022513,GARD:0013527,,Rare developmental defect during embryogenesis +GARD:0020947,GARD:0022513,GARD:0020840,,Rare developmental defect during embryogenesis +GARD:0020947,GARD:0022531,GARD:0020840,,Rare genetic disease +GARD:0020947,GARD:0022531,GARD:0013527,,Rare genetic disease +GARD:0020947,GARD:0022524,GARD:0013527,,Rare neurologic disease +GARD:0020948,GARD:0022512,GARD:0022512,,Rare renal disease +GARD:0020949,GARD:0022524,GARD:0010506,,Rare neurologic disease +GARD:0020949,GARD:0022513,GARD:0010506,,Rare developmental defect during embryogenesis +GARD:0020949,GARD:0022531,GARD:0010506,,Rare genetic disease +GARD:0020950,GARD:0022531,GARD:0010506,,Rare genetic disease +GARD:0020950,GARD:0022524,GARD:0010506,,Rare neurologic disease +GARD:0020950,GARD:0022513,GARD:0010506,,Rare developmental defect during embryogenesis +GARD:0020951,GARD:0022524,GARD:0007673,GARD:0020953,Rare neurologic disease +GARD:0020951,GARD:0022513,GARD:0007673,GARD:0020956,Rare developmental defect during embryogenesis +GARD:0020951,GARD:0022531,GARD:0007673,GARD:0020957,Rare genetic disease +GARD:0020951,GARD:0022531,GARD:0007673,GARD:0020953,Rare genetic disease +GARD:0020951,GARD:0022531,GARD:0007673,GARD:0020956,Rare genetic disease +GARD:0020951,GARD:0022524,GARD:0007673,GARD:0020952,Rare neurologic disease +GARD:0020951,GARD:0022513,GARD:0007673,GARD:0020955,Rare developmental defect during embryogenesis +GARD:0020951,GARD:0022524,GARD:0007673,GARD:0020956,Rare neurologic disease +GARD:0020951,GARD:0022531,GARD:0007673,GARD:0020954,Rare genetic disease +GARD:0020951,GARD:0022513,GARD:0007673,GARD:0020953,Rare developmental defect during embryogenesis +GARD:0020951,GARD:0022531,GARD:0007673,GARD:0020952,Rare genetic disease +GARD:0020951,GARD:0022524,GARD:0007673,GARD:0020955,Rare neurologic disease +GARD:0020951,GARD:0022513,GARD:0007673,GARD:0020957,Rare developmental defect during embryogenesis +GARD:0020951,GARD:0022524,GARD:0007673,GARD:0020957,Rare neurologic disease +GARD:0020951,GARD:0022513,GARD:0007673,GARD:0020952,Rare developmental defect during embryogenesis +GARD:0020951,GARD:0022513,GARD:0007673,GARD:0020954,Rare developmental defect during embryogenesis +GARD:0020951,GARD:0022524,GARD:0007673,GARD:0020954,Rare neurologic disease +GARD:0020951,GARD:0022531,GARD:0007673,GARD:0020955,Rare genetic disease +GARD:0020952,GARD:0022524,GARD:0020951,,Rare neurologic disease +GARD:0020952,GARD:0022513,GARD:0020951,,Rare developmental defect during embryogenesis +GARD:0020952,GARD:0022531,GARD:0020951,,Rare genetic disease +GARD:0020953,GARD:0022524,GARD:0020951,,Rare neurologic disease +GARD:0020953,GARD:0022531,GARD:0020951,,Rare genetic disease +GARD:0020953,GARD:0022513,GARD:0020951,,Rare developmental defect during embryogenesis +GARD:0020954,GARD:0022513,GARD:0020951,,Rare developmental defect during embryogenesis +GARD:0020954,GARD:0022531,GARD:0020951,,Rare genetic disease +GARD:0020954,GARD:0022524,GARD:0020951,,Rare neurologic disease +GARD:0020955,GARD:0022524,GARD:0020951,,Rare neurologic disease +GARD:0020955,GARD:0022531,GARD:0020951,,Rare genetic disease +GARD:0020955,GARD:0022513,GARD:0020951,,Rare developmental defect during embryogenesis +GARD:0020956,GARD:0022524,GARD:0020951,,Rare neurologic disease +GARD:0020956,GARD:0022513,GARD:0020951,,Rare developmental defect during embryogenesis +GARD:0020956,GARD:0022531,GARD:0020951,,Rare genetic disease +GARD:0020957,GARD:0022531,GARD:0020951,,Rare genetic disease +GARD:0020957,GARD:0022524,GARD:0020951,,Rare neurologic disease +GARD:0020957,GARD:0022513,GARD:0020951,,Rare developmental defect during embryogenesis +GARD:0020958,GARD:0022524,GARD:0007673,GARD:0003475,Rare neurologic disease +GARD:0020958,GARD:0022513,GARD:0007673,GARD:0009232,Rare developmental defect during embryogenesis +GARD:0020958,GARD:0022513,GARD:0007673,GARD:0020966,Rare developmental defect during embryogenesis +GARD:0020958,GARD:0022531,GARD:0007673,GARD:0009232,Rare genetic disease +GARD:0020958,GARD:0022524,GARD:0007673,GARD:0009232,Rare neurologic disease +GARD:0020958,GARD:0022531,GARD:0007673,GARD:0020966,Rare genetic disease +GARD:0020958,GARD:0022513,GARD:0007673,GARD:0003475,Rare developmental defect during embryogenesis +GARD:0020958,GARD:0022524,GARD:0007673,GARD:0020966,Rare neurologic disease +GARD:0020958,GARD:0022531,GARD:0007673,GARD:0003475,Rare genetic disease +GARD:0020958,GARD:0022524,GARD:0007673,GARD:0020965,Rare neurologic disease +GARD:0020958,GARD:0022513,GARD:0007673,GARD:0020965,Rare developmental defect during embryogenesis +GARD:0020958,GARD:0022531,GARD:0007673,GARD:0020965,Rare genetic disease +GARD:0020959,GARD:0022513,GARD:0003475,,Rare developmental defect during embryogenesis +GARD:0020959,GARD:0022524,GARD:0003475,,Rare neurologic disease +GARD:0020959,GARD:0022531,GARD:0003475,,Rare genetic disease +GARD:0020960,GARD:0022513,GARD:0003475,,Rare developmental defect during embryogenesis +GARD:0020960,GARD:0022524,GARD:0003475,,Rare neurologic disease +GARD:0020960,GARD:0022531,GARD:0003475,,Rare genetic disease +GARD:0020961,GARD:0022524,GARD:0003475,,Rare neurologic disease +GARD:0020961,GARD:0022513,GARD:0003475,,Rare developmental defect during embryogenesis +GARD:0020961,GARD:0022531,GARD:0003475,,Rare genetic disease +GARD:0020962,GARD:0022531,GARD:0003475,,Rare genetic disease +GARD:0020962,GARD:0022524,GARD:0003475,,Rare neurologic disease +GARD:0020962,GARD:0022513,GARD:0003475,,Rare developmental defect during embryogenesis +GARD:0020963,GARD:0022531,GARD:0003475,,Rare genetic disease +GARD:0020963,GARD:0022524,GARD:0003475,,Rare neurologic disease +GARD:0020963,GARD:0022513,GARD:0003475,,Rare developmental defect during embryogenesis +GARD:0020964,GARD:0022513,GARD:0003475,,Rare developmental defect during embryogenesis +GARD:0020964,GARD:0022524,GARD:0003475,,Rare neurologic disease +GARD:0020964,GARD:0022531,GARD:0003475,,Rare genetic disease +GARD:0020965,GARD:0022524,GARD:0020958,,Rare neurologic disease +GARD:0020965,GARD:0022531,GARD:0020958,,Rare genetic disease +GARD:0020965,GARD:0022513,GARD:0020958,,Rare developmental defect during embryogenesis +GARD:0020966,GARD:0022513,GARD:0020958,,Rare developmental defect during embryogenesis +GARD:0020966,GARD:0022531,GARD:0020958,,Rare genetic disease +GARD:0020966,GARD:0022524,GARD:0020958,,Rare neurologic disease +GARD:0020967,GARD:0022531,GARD:0017268,GARD:0006333,Rare genetic disease +GARD:0020967,GARD:0022524,GARD:0017268,GARD:0006333,Rare neurologic disease +GARD:0020967,GARD:0022513,GARD:0017268,GARD:0020968,Rare developmental defect during embryogenesis +GARD:0020967,GARD:0022524,GARD:0017268,GARD:0020968,Rare neurologic disease +GARD:0020967,GARD:0022513,GARD:0017268,GARD:0006333,Rare developmental defect during embryogenesis +GARD:0020967,GARD:0022531,GARD:0017268,GARD:0020968,Rare genetic disease +GARD:0020968,GARD:0022531,GARD:0020967,,Rare genetic disease +GARD:0020968,GARD:0022524,GARD:0020967,,Rare neurologic disease +GARD:0020968,GARD:0022513,GARD:0020967,,Rare developmental defect during embryogenesis +GARD:0020969,GARD:0022513,GARD:0006333,,Rare developmental defect during embryogenesis +GARD:0020969,GARD:0022531,GARD:0006333,,Rare genetic disease +GARD:0020969,GARD:0022524,GARD:0006333,,Rare neurologic disease +GARD:0020970,GARD:0022513,GARD:0006333,,Rare developmental defect during embryogenesis +GARD:0020970,GARD:0022524,GARD:0006333,,Rare neurologic disease +GARD:0020970,GARD:0022531,GARD:0006333,,Rare genetic disease +GARD:0020971,GARD:0022524,GARD:0006333,,Rare neurologic disease +GARD:0020971,GARD:0022513,GARD:0006333,,Rare developmental defect during embryogenesis +GARD:0020971,GARD:0022531,GARD:0006333,,Rare genetic disease +GARD:0020972,GARD:0022513,GARD:0017268,GARD:0020973,Rare developmental defect during embryogenesis +GARD:0020972,GARD:0022531,GARD:0017268,GARD:0010053,Rare genetic disease +GARD:0020972,GARD:0022531,GARD:0017268,GARD:0020973,Rare genetic disease +GARD:0020972,GARD:0022513,GARD:0017268,GARD:0010053,Rare developmental defect during embryogenesis +GARD:0020972,GARD:0022524,GARD:0017268,GARD:0020973,Rare neurologic disease +GARD:0020972,GARD:0022524,GARD:0017268,GARD:0010053,Rare neurologic disease +GARD:0020973,GARD:0022524,GARD:0020972,,Rare neurologic disease +GARD:0020973,GARD:0022513,GARD:0020972,,Rare developmental defect during embryogenesis +GARD:0020973,GARD:0022531,GARD:0020972,,Rare genetic disease +GARD:0020974,GARD:0022531,GARD:0018796,GARD:0022317,Rare genetic disease +GARD:0020974,GARD:0022524,GARD:0018796,GARD:0006007,Rare neurologic disease +GARD:0020974,GARD:0022524,GARD:0018796,GARD:0020975,Rare neurologic disease +GARD:0020974,GARD:0022513,GARD:0018796,GARD:0022317,Rare developmental defect during embryogenesis +GARD:0020974,GARD:0022524,GARD:0018796,GARD:0022317,Rare neurologic disease +GARD:0020974,GARD:0022513,GARD:0018796,GARD:0006007,Rare developmental defect during embryogenesis +GARD:0020974,GARD:0022531,GARD:0018796,GARD:0009233,Rare genetic disease +GARD:0020974,GARD:0022531,GARD:0018796,GARD:0006007,Rare genetic disease +GARD:0020974,GARD:0022513,GARD:0018796,GARD:0019691,Rare developmental defect during embryogenesis +GARD:0020974,GARD:0022524,GARD:0018796,GARD:0020976,Rare neurologic disease +GARD:0020974,GARD:0022513,GARD:0018796,GARD:0017642,Rare developmental defect during embryogenesis +GARD:0020974,GARD:0022524,GARD:0018796,GARD:0004018,Rare neurologic disease +GARD:0020974,GARD:0022513,GARD:0018796,GARD:0020975,Rare developmental defect during embryogenesis +GARD:0020974,GARD:0022513,GARD:0018796,GARD:0009873,Rare developmental defect during embryogenesis +GARD:0020974,GARD:0022513,GARD:0018796,GARD:0004018,Rare developmental defect during embryogenesis +GARD:0020974,GARD:0022531,GARD:0018796,GARD:0017642,Rare genetic disease +GARD:0020974,GARD:0022513,GARD:0018796,GARD:0020976,Rare developmental defect during embryogenesis +GARD:0020974,GARD:0022531,GARD:0018796,GARD:0020975,Rare genetic disease +GARD:0020974,GARD:0022524,GARD:0018796,GARD:0009233,Rare neurologic disease +GARD:0020974,GARD:0022513,GARD:0018796,GARD:0009233,Rare developmental defect during embryogenesis +GARD:0020974,GARD:0022531,GARD:0018796,GARD:0009873,Rare genetic disease +GARD:0020974,GARD:0022531,GARD:0018796,GARD:0019691,Rare genetic disease +GARD:0020974,GARD:0022524,GARD:0018796,GARD:0017642,Rare neurologic disease +GARD:0020974,GARD:0022524,GARD:0018796,GARD:0019691,Rare neurologic disease +GARD:0020974,GARD:0022531,GARD:0018796,GARD:0020976,Rare genetic disease +GARD:0020974,GARD:0022524,GARD:0018796,GARD:0009873,Rare neurologic disease +GARD:0020974,GARD:0022531,GARD:0018796,GARD:0004018,Rare genetic disease +GARD:0020975,GARD:0022513,GARD:0020974,,Rare developmental defect during embryogenesis +GARD:0020975,GARD:0022531,GARD:0020974,,Rare genetic disease +GARD:0020975,GARD:0022524,GARD:0020974,,Rare neurologic disease +GARD:0020976,GARD:0022524,GARD:0020974,,Rare neurologic disease +GARD:0020976,GARD:0022531,GARD:0020974,,Rare genetic disease +GARD:0020976,GARD:0022513,GARD:0020974,,Rare developmental defect during embryogenesis +GARD:0020977,GARD:0022524,GARD:0016601,,Rare neurologic disease +GARD:0020977,GARD:0022531,GARD:0021004,,Rare genetic disease +GARD:0020977,GARD:0022513,GARD:0016601,,Rare developmental defect during embryogenesis +GARD:0020978,GARD:0022513,GARD:0020338,GARD:0006665,Rare developmental defect during embryogenesis +GARD:0020978,GARD:0022513,GARD:0020338,GARD:0004518,Rare developmental defect during embryogenesis +GARD:0020978,GARD:0022513,GARD:0020338,GARD:0021381,Rare developmental defect during embryogenesis +GARD:0020978,GARD:0022513,GARD:0020338,GARD:0017290,Rare developmental defect during embryogenesis +GARD:0020978,GARD:0022531,GARD:0021004,GARD:0004518,Rare genetic disease +GARD:0020978,GARD:0022524,GARD:0020338,GARD:0022279,Rare neurologic disease +GARD:0020978,GARD:0022531,GARD:0021004,GARD:0021381,Rare genetic disease +GARD:0020978,GARD:0022524,GARD:0020338,GARD:0004518,Rare neurologic disease +GARD:0020978,GARD:0022524,GARD:0020338,GARD:0017290,Rare neurologic disease +GARD:0020978,GARD:0022524,GARD:0020338,GARD:0021381,Rare neurologic disease +GARD:0020978,GARD:0022531,GARD:0021004,GARD:0006665,Rare genetic disease +GARD:0020978,GARD:0022513,GARD:0020338,GARD:0022279,Rare developmental defect during embryogenesis +GARD:0020978,GARD:0022524,GARD:0020338,GARD:0006665,Rare neurologic disease +GARD:0020978,GARD:0022531,GARD:0021004,GARD:0017290,Rare genetic disease +GARD:0020979,GARD:0022513,GARD:0020338,,Rare developmental defect during embryogenesis +GARD:0020979,GARD:0022524,GARD:0020338,,Rare neurologic disease +GARD:0020980,GARD:0022524,GARD:0018818,GARD:0019777,Rare neurologic disease +GARD:0020980,GARD:0022531,GARD:0018818,GARD:0020981,Rare genetic disease +GARD:0020980,GARD:0022513,GARD:0018818,GARD:0019777,Rare developmental defect during embryogenesis +GARD:0020980,GARD:0022531,GARD:0018818,GARD:0019777,Rare genetic disease +GARD:0020980,GARD:0022513,GARD:0018818,GARD:0020981,Rare developmental defect during embryogenesis +GARD:0020980,GARD:0022524,GARD:0018818,GARD:0020981,Rare neurologic disease +GARD:0020981,GARD:0022531,GARD:0020980,,Rare genetic disease +GARD:0020981,GARD:0022524,GARD:0020980,,Rare neurologic disease +GARD:0020981,GARD:0022513,GARD:0020980,,Rare developmental defect during embryogenesis +GARD:0020982,GARD:0022524,GARD:0020041,GARD:0016671,Rare neurologic disease +GARD:0020982,GARD:0022513,GARD:0020041,GARD:0016671,Rare developmental defect during embryogenesis +GARD:0020982,GARD:0022531,GARD:0020041,GARD:0016671,Rare genetic disease +GARD:0020983,GARD:0022524,GARD:0016671,GARD:0020986,Rare neurologic disease +GARD:0020983,GARD:0022531,GARD:0016671,GARD:0020984,Rare genetic disease +GARD:0020983,GARD:0022513,GARD:0016671,GARD:0020984,Rare developmental defect during embryogenesis +GARD:0020983,GARD:0022513,GARD:0016671,GARD:0020985,Rare developmental defect during embryogenesis +GARD:0020983,GARD:0022524,GARD:0016671,GARD:0020985,Rare neurologic disease +GARD:0020983,GARD:0022524,GARD:0016671,GARD:0020984,Rare neurologic disease +GARD:0020983,GARD:0022531,GARD:0016671,GARD:0020986,Rare genetic disease +GARD:0020983,GARD:0022513,GARD:0016671,GARD:0020986,Rare developmental defect during embryogenesis +GARD:0020983,GARD:0022531,GARD:0016671,GARD:0020985,Rare genetic disease +GARD:0020984,GARD:0022531,GARD:0020983,,Rare genetic disease +GARD:0020984,GARD:0022513,GARD:0020983,,Rare developmental defect during embryogenesis +GARD:0020984,GARD:0022524,GARD:0020983,,Rare neurologic disease +GARD:0020985,GARD:0022513,GARD:0020983,,Rare developmental defect during embryogenesis +GARD:0020985,GARD:0022524,GARD:0020983,,Rare neurologic disease +GARD:0020985,GARD:0022531,GARD:0020983,,Rare genetic disease +GARD:0020986,GARD:0022513,GARD:0020983,,Rare developmental defect during embryogenesis +GARD:0020986,GARD:0022524,GARD:0020983,,Rare neurologic disease +GARD:0020986,GARD:0022531,GARD:0020983,,Rare genetic disease +GARD:0020987,GARD:0022513,GARD:0020338,GARD:0006681,Rare developmental defect during embryogenesis +GARD:0020987,GARD:0022531,GARD:0021004,GARD:0006681,Rare genetic disease +GARD:0020987,GARD:0022524,GARD:0020338,GARD:0000166,Rare neurologic disease +GARD:0020987,GARD:0022513,GARD:0020338,GARD:0007430,Rare developmental defect during embryogenesis +GARD:0020987,GARD:0022524,GARD:0020338,GARD:0007430,Rare neurologic disease +GARD:0020987,GARD:0022531,GARD:0021004,GARD:0000166,Rare genetic disease +GARD:0020987,GARD:0022531,GARD:0021004,GARD:0007430,Rare genetic disease +GARD:0020987,GARD:0022524,GARD:0020338,GARD:0006681,Rare neurologic disease +GARD:0020987,GARD:0022513,GARD:0020338,GARD:0000166,Rare developmental defect during embryogenesis +GARD:0020988,GARD:0022524,GARD:0019865,GARD:0022206,Rare neurologic disease +GARD:0020988,GARD:0022524,GARD:0019865,GARD:0020989,Rare neurologic disease +GARD:0020988,GARD:0022513,GARD:0019865,GARD:0020989,Rare developmental defect during embryogenesis +GARD:0020988,GARD:0022524,GARD:0019865,GARD:0000017,Rare neurologic disease +GARD:0020988,GARD:0022513,GARD:0019865,GARD:0000017,Rare developmental defect during embryogenesis +GARD:0020988,GARD:0022513,GARD:0019865,GARD:0022206,Rare developmental defect during embryogenesis +GARD:0020989,GARD:0022513,GARD:0020988,,Rare developmental defect during embryogenesis +GARD:0020989,GARD:0022524,GARD:0020988,,Rare neurologic disease +GARD:0020990,GARD:0022513,GARD:0019480,GARD:0020991,Rare developmental defect during embryogenesis +GARD:0020990,GARD:0022524,GARD:0019480,GARD:0020991,Rare neurologic disease +GARD:0020990,GARD:0022513,GARD:0019480,GARD:0020992,Rare developmental defect during embryogenesis +GARD:0020990,GARD:0022524,GARD:0019480,GARD:0020992,Rare neurologic disease +GARD:0020991,GARD:0022513,GARD:0020990,,Rare developmental defect during embryogenesis +GARD:0020991,GARD:0022524,GARD:0020990,,Rare neurologic disease +GARD:0020992,GARD:0022513,GARD:0020990,,Rare developmental defect during embryogenesis +GARD:0020992,GARD:0022524,GARD:0020990,,Rare neurologic disease +GARD:0020993,GARD:0022531,GARD:0006242,,Rare genetic disease +GARD:0020993,GARD:0022524,GARD:0006242,,Rare neurologic disease +GARD:0020993,GARD:0022513,GARD:0006242,,Rare developmental defect during embryogenesis +GARD:0020994,GARD:0022531,GARD:0006242,,Rare genetic disease +GARD:0020994,GARD:0022524,GARD:0006242,,Rare neurologic disease +GARD:0020994,GARD:0022513,GARD:0006242,,Rare developmental defect during embryogenesis +GARD:0020995,GARD:0022513,GARD:0019481,,Rare developmental defect during embryogenesis +GARD:0020995,GARD:0022524,GARD:0019481,,Rare neurologic disease +GARD:0020996,GARD:0022513,GARD:0019481,,Rare developmental defect during embryogenesis +GARD:0020996,GARD:0022524,GARD:0019481,,Rare neurologic disease +GARD:0020997,GARD:0022524,GARD:0020238,GARD:0018720,Rare neurologic disease +GARD:0020997,GARD:0022513,GARD:0020238,GARD:0001200,Rare developmental defect during embryogenesis +GARD:0020997,GARD:0022524,GARD:0020238,GARD:0001200,Rare neurologic disease +GARD:0020997,GARD:0022513,GARD:0020238,GARD:0018720,Rare developmental defect during embryogenesis +GARD:0020998,GARD:0022531,GARD:0006682,,Rare genetic disease +GARD:0020998,GARD:0022524,GARD:0006682,,Rare neurologic disease +GARD:0020998,GARD:0022513,GARD:0006682,,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0017761,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0021707,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0018027,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0017846,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0006901,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0017006,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0000086,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0017969,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0021707,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0006901,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0022332,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0017006,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0004437,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0017636,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0009947,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0022010,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0009455,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0010216,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0000346,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0004014,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0021944,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0009947,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0000229,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0001195,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0001196,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0009455,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0021944,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0017761,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0000424,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0004412,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0017597,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0000424,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0010168,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0017846,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0008338,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0021002,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0000086,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0017969,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0000448,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0017824,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0004014,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0017871,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0022010,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0008338,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0017743,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0001410,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0017375,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0017636,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0017871,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0018034,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0010168,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0012669,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0017824,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0001196,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0001195,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0016670,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0022332,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0000229,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0000448,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0016670,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0010216,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0004412,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0017815,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0017375,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0012669,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0001410,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0004437,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0010169,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0018034,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0017597,Rare neurologic disease +GARD:0020999,GARD:0022524,GARD:0019866,GARD:0010169,Rare neurologic disease +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0000346,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0017815,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0018027,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0021002,Rare developmental defect during embryogenesis +GARD:0020999,GARD:0022513,GARD:0019866,GARD:0017743,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0017620,Rare neurologic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0003627,Rare genetic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0003607,Rare neurologic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0003610,Rare neurologic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0010216,Rare neurologic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0017873,Rare genetic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0017502,Rare neurologic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0017381,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0017410,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0003627,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0010995,Rare genetic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0017858,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0021450,Rare neurologic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0008606,Rare neurologic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0003607,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0021450,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0010216,Rare genetic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0003622,Rare neurologic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0017502,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0010216,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0005534,Rare neurologic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0017410,Rare neurologic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0013655,Rare genetic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0017873,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0005534,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0003622,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0022312,Rare genetic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0021174,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0005534,Rare genetic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0021174,Rare genetic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0003610,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0017858,Rare neurologic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0021450,Rare genetic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0003609,Rare genetic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0017743,Rare neurologic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0017672,Rare genetic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0017620,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0005950,Rare neurologic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0017620,Rare genetic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0017354,Rare neurologic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0022397,Rare neurologic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0017672,Rare neurologic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0010995,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0003627,Rare neurologic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0021174,Rare neurologic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0017381,Rare neurologic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0003610,Rare genetic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0005950,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0003607,Rare genetic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0005950,Rare genetic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0003609,Rare neurologic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0008606,Rare genetic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0017381,Rare genetic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0017873,Rare neurologic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0008606,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0022397,Rare genetic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0013655,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0017858,Rare genetic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0017743,Rare genetic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0022312,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0017672,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0013655,Rare neurologic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0017410,Rare genetic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0003609,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0003622,Rare genetic disease +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0022312,Rare neurologic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0017354,Rare genetic disease +GARD:0021000,GARD:0022531,GARD:0021007,GARD:0017502,Rare genetic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0022397,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0017354,Rare developmental defect during embryogenesis +GARD:0021000,GARD:0022524,GARD:0019866,GARD:0010995,Rare neurologic disease +GARD:0021000,GARD:0022513,GARD:0019866,GARD:0017743,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0012682,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0017138,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0012403,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0002454,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0017922,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0017375,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0017187,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0003436,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0020687,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0017380,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0003480,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0001164,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0017112,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0018654,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0022370,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0004940,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0003788,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0006683,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0012403,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0018020,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0000215,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0013489,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0003480,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0017923,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0017757,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0000246,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0017992,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0022370,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0004940,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0002725,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0001164,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0003788,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0002454,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0017968,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0019045,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0004752,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0018022,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0007627,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0017210,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0002317,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0017992,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0000246,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0013489,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0000086,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0003436,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0006683,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0021978,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0005180,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0002722,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0017985,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0017923,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0010216,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0020127,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0000065,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0017375,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0017138,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0017380,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0017210,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0004752,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0017440,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0019045,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0017968,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0020127,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0012682,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0017440,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0004199,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0017922,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0000086,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0000106,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0007627,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0004199,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0017112,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0002722,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0000106,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0010216,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0017187,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0002317,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0002725,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0000215,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0000065,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0017985,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0018020,Rare neurologic disease +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0020687,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0021978,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022524,GARD:0019866,GARD:0005180,Rare neurologic disease +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0017757,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0018654,Rare developmental defect during embryogenesis +GARD:0021001,GARD:0022513,GARD:0019866,GARD:0018022,Rare developmental defect during embryogenesis +GARD:0021002,GARD:0022524,GARD:0020999,GARD:0000998,Rare neurologic disease +GARD:0021002,GARD:0022524,GARD:0020999,GARD:0004665,Rare neurologic disease +GARD:0021002,GARD:0022513,GARD:0020999,GARD:0004665,Rare developmental defect during embryogenesis +GARD:0021002,GARD:0022513,GARD:0020999,GARD:0001669,Rare developmental defect during embryogenesis +GARD:0021002,GARD:0022524,GARD:0020999,GARD:0009841,Rare neurologic disease +GARD:0021002,GARD:0022513,GARD:0020999,GARD:0000998,Rare developmental defect during embryogenesis +GARD:0021002,GARD:0022513,GARD:0020999,GARD:0001226,Rare developmental defect during embryogenesis +GARD:0021002,GARD:0022513,GARD:0020999,GARD:0000172,Rare developmental defect during embryogenesis +GARD:0021002,GARD:0022524,GARD:0020999,GARD:0005642,Rare neurologic disease +GARD:0021002,GARD:0022524,GARD:0020999,GARD:0000172,Rare neurologic disease +GARD:0021002,GARD:0022524,GARD:0020999,GARD:0002222,Rare neurologic disease +GARD:0021002,GARD:0022524,GARD:0020999,GARD:0005666,Rare neurologic disease +GARD:0021002,GARD:0022513,GARD:0020999,GARD:0005642,Rare developmental defect during embryogenesis +GARD:0021002,GARD:0022513,GARD:0020999,GARD:0005666,Rare developmental defect during embryogenesis +GARD:0021002,GARD:0022524,GARD:0020999,GARD:0001669,Rare neurologic disease +GARD:0021002,GARD:0022513,GARD:0020999,GARD:0008520,Rare developmental defect during embryogenesis +GARD:0021002,GARD:0022524,GARD:0020999,GARD:0018922,Rare neurologic disease +GARD:0021002,GARD:0022524,GARD:0020999,GARD:0008520,Rare neurologic disease +GARD:0021002,GARD:0022513,GARD:0020999,GARD:0018922,Rare developmental defect during embryogenesis +GARD:0021002,GARD:0022513,GARD:0020999,GARD:0002222,Rare developmental defect during embryogenesis +GARD:0021002,GARD:0022524,GARD:0020999,GARD:0001226,Rare neurologic disease +GARD:0021002,GARD:0022513,GARD:0020999,GARD:0009841,Rare developmental defect during embryogenesis +GARD:0021003,GARD:0022531,GARD:0020282,GARD:0021005,Rare genetic disease +GARD:0021003,GARD:0022531,GARD:0020282,GARD:0018796,Rare genetic disease +GARD:0021003,GARD:0022531,GARD:0020282,GARD:0006682,Rare genetic disease +GARD:0021003,GARD:0022531,GARD:0020282,GARD:0000017,Rare genetic disease +GARD:0021003,GARD:0022531,GARD:0020282,GARD:0022206,Rare genetic disease +GARD:0021003,GARD:0022531,GARD:0020282,GARD:0019482,Rare genetic disease +GARD:0021003,GARD:0022531,GARD:0020282,GARD:0021004,Rare genetic disease +GARD:0021004,GARD:0022531,GARD:0021003,GARD:0003603,Rare genetic disease +GARD:0021004,GARD:0022531,GARD:0021003,GARD:0020978,Rare genetic disease +GARD:0021004,GARD:0022531,GARD:0021003,GARD:0020987,Rare genetic disease +GARD:0021004,GARD:0022531,GARD:0021003,GARD:0020041,Rare genetic disease +GARD:0021004,GARD:0022531,GARD:0021003,GARD:0021407,Rare genetic disease +GARD:0021004,GARD:0022531,GARD:0021003,GARD:0020977,Rare genetic disease +GARD:0021005,GARD:0022531,GARD:0021003,GARD:0010977,Rare genetic disease +GARD:0021005,GARD:0022531,GARD:0021003,GARD:0006242,Rare genetic disease +GARD:0021005,GARD:0022531,GARD:0021003,GARD:0021006,Rare genetic disease +GARD:0021006,GARD:0022531,GARD:0021005,GARD:0001200,Rare genetic disease +GARD:0021006,GARD:0022531,GARD:0021005,GARD:0006802,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0002725,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0005180,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0021000,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0017112,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0018020,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0004199,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0017985,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0017187,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0003436,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0003480,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0017922,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0017923,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0000215,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0012682,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0022370,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0017440,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0021010,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0017992,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0013489,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0021008,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0017138,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0020687,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0018022,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0021978,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0012291,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0007627,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0017380,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0018654,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0017968,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0017210,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0006683,Rare genetic disease +GARD:0021007,GARD:0022531,GARD:0020282,GARD:0012403,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0017815,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0017375,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0009947,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0006901,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0004412,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0017846,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0021009,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0022010,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0010168,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0018027,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0004014,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0008520,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0017636,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0017803,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0021944,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0017761,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0009455,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0000346,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0001195,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0016670,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0008338,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0001410,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0017006,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0017871,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0017824,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0000086,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0021707,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0012669,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0017969,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0000448,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0017743,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0017597,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0010216,Rare genetic disease +GARD:0021008,GARD:0022531,GARD:0021007,GARD:0010169,Rare genetic disease +GARD:0021009,GARD:0022531,GARD:0021008,GARD:0005642,Rare genetic disease +GARD:0021009,GARD:0022531,GARD:0021008,GARD:0002222,Rare genetic disease +GARD:0021009,GARD:0022531,GARD:0021008,GARD:0001669,Rare genetic disease +GARD:0021009,GARD:0022531,GARD:0021008,GARD:0000998,Rare genetic disease +GARD:0021009,GARD:0022531,GARD:0021008,GARD:0005666,Rare genetic disease +GARD:0021009,GARD:0022531,GARD:0021008,GARD:0001226,Rare genetic disease +GARD:0021009,GARD:0022531,GARD:0021008,GARD:0009841,Rare genetic disease +GARD:0021009,GARD:0022531,GARD:0021008,GARD:0004665,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0016555,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0005721,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0012486,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0005688,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0021918,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0012487,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0005764,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0010341,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0021753,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0005225,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0020125,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0001537,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0017824,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0000448,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0021944,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0012524,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0017773,Rare genetic disease +GARD:0021010,GARD:0022531,GARD:0021007,GARD:0005534,Rare genetic disease +GARD:0021011,GARD:0022531,GARD:0018875,GARD:0002998,Rare genetic disease +GARD:0021011,GARD:0022531,GARD:0018875,GARD:0017159,Rare genetic disease +GARD:0021011,GARD:0022531,GARD:0018875,GARD:0009569,Rare genetic disease +GARD:0021012,GARD:0022531,GARD:0018875,GARD:0008533,Rare genetic disease +GARD:0021012,GARD:0022531,GARD:0018875,GARD:0006408,Rare genetic disease +GARD:0021012,GARD:0022531,GARD:0018875,GARD:0010900,Rare genetic disease +GARD:0021012,GARD:0022531,GARD:0018875,GARD:0006202,Rare genetic disease +GARD:0021012,GARD:0022531,GARD:0018875,GARD:0008532,Rare genetic disease +GARD:0021012,GARD:0022531,GARD:0018875,GARD:0007378,Rare genetic disease +GARD:0021012,GARD:0022531,GARD:0018875,GARD:0008598,Rare genetic disease +GARD:0021013,GARD:0022531,GARD:0018875,GARD:0000139,Rare genetic disease +GARD:0021013,GARD:0022531,GARD:0018875,GARD:0001119,Rare genetic disease +GARD:0021013,GARD:0022531,GARD:0018875,GARD:0017448,Rare genetic disease +GARD:0021014,GARD:0022531,GARD:0018875,GARD:0004520,Rare genetic disease +GARD:0021015,GARD:0022531,GARD:0018875,GARD:0002789,Rare genetic disease +GARD:0021015,GARD:0022531,GARD:0018875,GARD:0021421,Rare genetic disease +GARD:0021015,GARD:0022531,GARD:0018875,GARD:0019766,Rare genetic disease +GARD:0021015,GARD:0022531,GARD:0018875,GARD:0011984,Rare genetic disease +GARD:0021015,GARD:0022531,GARD:0018875,GARD:0021435,Rare genetic disease +GARD:0021015,GARD:0022531,GARD:0018875,GARD:0001303,Rare genetic disease +GARD:0021016,GARD:0022531,GARD:0020290,GARD:0000802,Rare genetic disease +GARD:0021016,GARD:0022531,GARD:0020290,GARD:0001908,Rare genetic disease +GARD:0021016,GARD:0022531,GARD:0020290,GARD:0000743,Rare genetic disease +GARD:0021016,GARD:0022531,GARD:0020290,GARD:0020013,Rare genetic disease +GARD:0021016,GARD:0022531,GARD:0020290,GARD:0004883,Rare genetic disease +GARD:0021016,GARD:0022531,GARD:0020290,GARD:0022282,Rare genetic disease +GARD:0021016,GARD:0022531,GARD:0020290,GARD:0017670,Rare genetic disease +GARD:0021016,GARD:0022531,GARD:0020290,GARD:0015018,Rare genetic disease +GARD:0021016,GARD:0022531,GARD:0020290,GARD:0003687,Rare genetic disease +GARD:0021016,GARD:0022531,GARD:0020290,GARD:0017588,Rare genetic disease +GARD:0021016,GARD:0022531,GARD:0020290,GARD:0006795,Rare genetic disease +GARD:0021016,GARD:0022531,GARD:0020290,GARD:0005476,Rare genetic disease +GARD:0021016,GARD:0022531,GARD:0020290,GARD:0017828,Rare genetic disease +GARD:0021017,GARD:0022536,GARD:0018676,GARD:0016755,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021017,GARD:0022531,GARD:0020532,GARD:0016754,Rare genetic disease +GARD:0021017,GARD:0022515,GARD:0020532,GARD:0016755,Rare cardiac disease +GARD:0021017,GARD:0022525,GARD:0018676,GARD:0016755,Rare systemic or rheumatologic disease +GARD:0021017,GARD:0022531,GARD:0006611,GARD:0016755,Rare genetic disease +GARD:0021017,GARD:0022525,GARD:0018676,GARD:0016754,Rare systemic or rheumatologic disease +GARD:0021017,GARD:0022515,GARD:0020532,GARD:0016754,Rare cardiac disease +GARD:0021017,GARD:0022531,GARD:0006611,GARD:0016754,Rare genetic disease +GARD:0021017,GARD:0022531,GARD:0020532,GARD:0016755,Rare genetic disease +GARD:0021017,GARD:0022536,GARD:0018676,GARD:0016754,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0022146,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0001292,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0003054,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0021499,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0021456,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0017355,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0000306,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0022204,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0006249,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0022462,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0000521,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0017762,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0022459,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0017679,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0021957,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0017371,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0004380,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0021453,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0017848,Rare genetic disease +GARD:0021018,GARD:0022531,GARD:0022531,GARD:0006611,Rare genetic disease +GARD:0021019,GARD:0022522,GARD:0018905,GARD:0021968,Rare hematologic disease +GARD:0021019,GARD:0022531,GARD:0018905,GARD:0021967,Rare genetic disease +GARD:0021019,GARD:0022531,GARD:0018905,GARD:0021968,Rare genetic disease +GARD:0021019,GARD:0022522,GARD:0018905,GARD:0021967,Rare hematologic disease +GARD:0021020,GARD:0022531,GARD:0018905,GARD:0017857,Rare genetic disease +GARD:0021020,GARD:0022522,GARD:0018905,GARD:0012478,Rare hematologic disease +GARD:0021020,GARD:0022531,GARD:0018905,GARD:0008312,Rare genetic disease +GARD:0021020,GARD:0022531,GARD:0018905,GARD:0012478,Rare genetic disease +GARD:0021020,GARD:0022522,GARD:0018905,GARD:0016691,Rare hematologic disease +GARD:0021020,GARD:0022522,GARD:0018905,GARD:0017695,Rare hematologic disease +GARD:0021020,GARD:0022531,GARD:0018905,GARD:0002478,Rare genetic disease +GARD:0021020,GARD:0022531,GARD:0018905,GARD:0017695,Rare genetic disease +GARD:0021020,GARD:0022522,GARD:0018905,GARD:0004777,Rare hematologic disease +GARD:0021020,GARD:0022522,GARD:0018905,GARD:0017857,Rare hematologic disease +GARD:0021020,GARD:0022522,GARD:0018905,GARD:0008312,Rare hematologic disease +GARD:0021020,GARD:0022531,GARD:0018905,GARD:0004777,Rare genetic disease +GARD:0021020,GARD:0022522,GARD:0018905,GARD:0002478,Rare hematologic disease +GARD:0021020,GARD:0022531,GARD:0018905,GARD:0016691,Rare genetic disease +GARD:0021021,GARD:0022531,GARD:0022531,GARD:0021690,Rare genetic disease +GARD:0021021,GARD:0022531,GARD:0022531,GARD:0021685,Rare genetic disease +GARD:0021022,GARD:0022531,GARD:0021934,GARD:0000621,Rare genetic disease +GARD:0021022,GARD:0022522,GARD:0018883,GARD:0000621,Rare hematologic disease +GARD:0021022,GARD:0022522,GARD:0018883,GARD:0020627,Rare hematologic disease +GARD:0021022,GARD:0022531,GARD:0021934,GARD:0020627,Rare genetic disease +GARD:0021022,GARD:0022536,GARD:0018883,GARD:0000621,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021022,GARD:0022536,GARD:0018883,GARD:0020627,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021023,GARD:0022531,GARD:0021934,GARD:0000871,Rare genetic disease +GARD:0021023,GARD:0022531,GARD:0021934,GARD:0020607,Rare genetic disease +GARD:0021023,GARD:0022536,GARD:0018883,GARD:0020610,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021023,GARD:0022536,GARD:0018883,GARD:0020607,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021023,GARD:0022522,GARD:0018883,GARD:0020607,Rare hematologic disease +GARD:0021023,GARD:0022536,GARD:0018883,GARD:0000871,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021023,GARD:0022522,GARD:0018883,GARD:0020610,Rare hematologic disease +GARD:0021023,GARD:0022531,GARD:0021934,GARD:0020610,Rare genetic disease +GARD:0021023,GARD:0022522,GARD:0018883,GARD:0000871,Rare hematologic disease +GARD:0021024,GARD:0022536,GARD:0018883,GARD:0012459,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021024,GARD:0022531,GARD:0021934,GARD:0012459,Rare genetic disease +GARD:0021024,GARD:0022522,GARD:0018883,GARD:0012459,Rare hematologic disease +GARD:0021024,GARD:0022522,GARD:0018883,GARD:0008614,Rare hematologic disease +GARD:0021024,GARD:0022536,GARD:0018883,GARD:0008614,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021024,GARD:0022531,GARD:0021934,GARD:0008614,Rare genetic disease +GARD:0021025,GARD:0022536,GARD:0016531,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021025,GARD:0022517,GARD:0016531,,Rare respiratory disease +GARD:0021025,GARD:0022531,GARD:0016531,,Rare genetic disease +GARD:0021026,GARD:0022536,GARD:0007501,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021026,GARD:0022517,GARD:0007501,,Rare respiratory disease +GARD:0021027,GARD:0022536,GARD:0007501,GARD:0021028,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021027,GARD:0022536,GARD:0007501,GARD:0021029,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021027,GARD:0022517,GARD:0007501,GARD:0021029,Rare respiratory disease +GARD:0021027,GARD:0022536,GARD:0007501,GARD:0021031,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021027,GARD:0022517,GARD:0007501,GARD:0021030,Rare respiratory disease +GARD:0021027,GARD:0022536,GARD:0007501,GARD:0021030,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021027,GARD:0022536,GARD:0007501,GARD:0021032,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021027,GARD:0022517,GARD:0007501,GARD:0021033,Rare respiratory disease +GARD:0021027,GARD:0022517,GARD:0007501,GARD:0021032,Rare respiratory disease +GARD:0021027,GARD:0022536,GARD:0007501,GARD:0021033,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021027,GARD:0022517,GARD:0007501,GARD:0021031,Rare respiratory disease +GARD:0021027,GARD:0022517,GARD:0007501,GARD:0021028,Rare respiratory disease +GARD:0021028,GARD:0022517,GARD:0021027,,Rare respiratory disease +GARD:0021028,GARD:0022536,GARD:0021027,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021029,GARD:0022536,GARD:0021027,GARD:0006323,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021029,GARD:0022517,GARD:0021027,GARD:0006323,Rare respiratory disease +GARD:0021030,GARD:0022536,GARD:0021027,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021030,GARD:0022517,GARD:0021027,,Rare respiratory disease +GARD:0021031,GARD:0022536,GARD:0021027,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021031,GARD:0022517,GARD:0021027,,Rare respiratory disease +GARD:0021032,GARD:0022517,GARD:0021027,,Rare respiratory disease +GARD:0021032,GARD:0022536,GARD:0021027,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021033,GARD:0022517,GARD:0021027,,Rare respiratory disease +GARD:0021033,GARD:0022536,GARD:0021027,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021034,GARD:0022517,GARD:0018904,,Rare respiratory disease +GARD:0021035,GARD:0022517,GARD:0018904,,Rare respiratory disease +GARD:0021036,GARD:0022517,GARD:0018904,GARD:0016652,Rare respiratory disease +GARD:0021036,GARD:0022517,GARD:0018904,GARD:0017569,Rare respiratory disease +GARD:0021037,GARD:0022522,GARD:0020236,GARD:0021038,Rare hematologic disease +GARD:0021038,GARD:0022522,GARD:0021037,,Rare hematologic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0012798,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0017741,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0012798,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0011927,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0010981,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0010510,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0017684,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0006677,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0010902,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0009921,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0017741,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0010981,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0011899,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0021738,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0010510,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0017684,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0021702,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0021738,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0011927,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0010902,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0021040,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0021085,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0019486,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0011899,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0021702,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0021085,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0021040,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020028,GARD:0006677,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0009921,Rare genetic disease +GARD:0021039,GARD:0022531,GARD:0020280,GARD:0019486,Rare genetic disease +GARD:0021040,GARD:0022531,GARD:0021039,GARD:0008436,Rare genetic disease +GARD:0021040,GARD:0022531,GARD:0021039,GARD:0017273,Rare genetic disease +GARD:0021040,GARD:0022531,GARD:0021039,GARD:0007471,Rare genetic disease +GARD:0021040,GARD:0022531,GARD:0021039,GARD:0010899,Rare genetic disease +GARD:0021041,GARD:0022536,GARD:0020048,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021041,GARD:0022508,GARD:0020048,,Rare inborn errors of metabolism +GARD:0021041,GARD:0022506,GARD:0020048,,Rare hepatic disease +GARD:0021041,GARD:0022531,GARD:0020048,,Rare genetic disease +GARD:0021042,GARD:0022535,GARD:0021163,GARD:0021043,Rare neoplastic disease +GARD:0021042,GARD:0022535,GARD:0019403,GARD:0021043,Rare neoplastic disease +GARD:0021042,GARD:0022535,GARD:0019403,GARD:0017274,Rare neoplastic disease +GARD:0021042,GARD:0022516,GARD:0022516,GARD:0017274,Rare gastroenterologic disease +GARD:0021042,GARD:0022516,GARD:0022516,GARD:0021043,Rare gastroenterologic disease +GARD:0021042,GARD:0022535,GARD:0021163,GARD:0017274,Rare neoplastic disease +GARD:0021043,GARD:0022535,GARD:0021042,GARD:0017929,Rare neoplastic disease +GARD:0021043,GARD:0022516,GARD:0021042,GARD:0017929,Rare gastroenterologic disease +GARD:0021044,GARD:0022531,GARD:0019766,GARD:0003830,Rare genetic disease +GARD:0021044,GARD:0022521,GARD:0019766,GARD:0017275,Rare endocrine disease +GARD:0021044,GARD:0022531,GARD:0019766,GARD:0017275,Rare genetic disease +GARD:0021044,GARD:0022531,GARD:0019766,GARD:0003829,Rare genetic disease +GARD:0021044,GARD:0022521,GARD:0019766,GARD:0003830,Rare endocrine disease +GARD:0021044,GARD:0022521,GARD:0019766,GARD:0003829,Rare endocrine disease +GARD:0021044,GARD:0022535,GARD:0019766,GARD:0003829,Rare neoplastic disease +GARD:0021044,GARD:0022535,GARD:0019766,GARD:0003830,Rare neoplastic disease +GARD:0021044,GARD:0022535,GARD:0019766,GARD:0017275,Rare neoplastic disease +GARD:0021045,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0021046,GARD:0022520,GARD:0007095,,Rare ophthalmic disorder +GARD:0021046,GARD:0022531,GARD:0007095,,Rare genetic disease +GARD:0021046,GARD:0022508,GARD:0007095,,Rare inborn errors of metabolism +GARD:0021046,GARD:0022513,GARD:0007095,,Rare developmental defect during embryogenesis +GARD:0021046,GARD:0022536,GARD:0007095,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021046,GARD:0022511,GARD:0007095,,Rare bone disease +GARD:0021047,GARD:0022531,GARD:0007095,,Rare genetic disease +GARD:0021047,GARD:0022511,GARD:0007095,,Rare bone disease +GARD:0021047,GARD:0022536,GARD:0007095,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021047,GARD:0022508,GARD:0007095,,Rare inborn errors of metabolism +GARD:0021047,GARD:0022520,GARD:0007095,,Rare ophthalmic disorder +GARD:0021047,GARD:0022513,GARD:0007095,,Rare developmental defect during embryogenesis +GARD:0021048,GARD:0022524,GARD:0006801,,Rare neurologic disease +GARD:0021048,GARD:0022531,GARD:0006801,,Rare genetic disease +GARD:0021049,GARD:0022524,GARD:0006801,,Rare neurologic disease +GARD:0021049,GARD:0022531,GARD:0006801,,Rare genetic disease +GARD:0021050,GARD:0022531,GARD:0006801,,Rare genetic disease +GARD:0021050,GARD:0022524,GARD:0006801,,Rare neurologic disease +GARD:0021051,GARD:0022528,GARD:0019998,,Rare otorhinolaryngologic disease +GARD:0021051,GARD:0022531,GARD:0020276,,Rare genetic disease +GARD:0021051,GARD:0022531,GARD:0021914,,Rare genetic disease +GARD:0021051,GARD:0022513,GARD:0021914,,Rare developmental defect during embryogenesis +GARD:0021051,GARD:0022513,GARD:0019998,,Rare developmental defect during embryogenesis +GARD:0021051,GARD:0022507,GARD:0019998,,Rare maxillo-facial surgical disease +GARD:0021051,GARD:0022513,GARD:0019431,,Rare developmental defect during embryogenesis +GARD:0021051,GARD:0022513,GARD:0022209,,Rare developmental defect during embryogenesis +GARD:0021051,GARD:0022527,GARD:0021914,,Rare circulatory system disease +GARD:0021051,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0021051,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0021051,GARD:0022531,GARD:0019431,,Rare genetic disease +GARD:0021051,GARD:0022531,GARD:0022209,,Rare genetic disease +GARD:0021052,GARD:0022531,GARD:0020881,,Rare genetic disease +GARD:0021052,GARD:0022513,GARD:0020881,,Rare developmental defect during embryogenesis +GARD:0021053,GARD:0022521,GARD:0021849,GARD:0021056,Rare endocrine disease +GARD:0021053,GARD:0022531,GARD:0020011,GARD:0022238,Rare genetic disease +GARD:0021053,GARD:0022521,GARD:0021849,GARD:0003947,Rare endocrine disease +GARD:0021053,GARD:0022531,GARD:0020011,GARD:0017256,Rare genetic disease +GARD:0021053,GARD:0022521,GARD:0021849,GARD:0022238,Rare endocrine disease +GARD:0021053,GARD:0022521,GARD:0021849,GARD:0017256,Rare endocrine disease +GARD:0021053,GARD:0022531,GARD:0020011,GARD:0003947,Rare genetic disease +GARD:0021053,GARD:0022531,GARD:0020011,GARD:0021056,Rare genetic disease +GARD:0021054,GARD:0022521,GARD:0020067,,Rare endocrine disease +GARD:0021054,GARD:0022513,GARD:0020067,,Rare developmental defect during embryogenesis +GARD:0021054,GARD:0022531,GARD:0020067,,Rare genetic disease +GARD:0021055,GARD:0022531,GARD:0003947,GARD:0018983,Rare genetic disease +GARD:0021055,GARD:0022513,GARD:0003947,GARD:0020068,Rare developmental defect during embryogenesis +GARD:0021055,GARD:0022513,GARD:0003947,GARD:0018983,Rare developmental defect during embryogenesis +GARD:0021055,GARD:0022521,GARD:0003947,GARD:0020068,Rare endocrine disease +GARD:0021055,GARD:0022531,GARD:0003947,GARD:0020068,Rare genetic disease +GARD:0021055,GARD:0022521,GARD:0003947,GARD:0018983,Rare endocrine disease +GARD:0021056,GARD:0022521,GARD:0021053,,Rare endocrine disease +GARD:0021056,GARD:0022531,GARD:0021053,,Rare genetic disease +GARD:0021057,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0021057,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0021057,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021057,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021057,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021057,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0021058,GARD:0022520,GARD:0022115,,Rare ophthalmic disorder +GARD:0021059,GARD:0022520,GARD:0020333,,Rare ophthalmic disorder +GARD:0021060,GARD:0022520,GARD:0020333,,Rare ophthalmic disorder +GARD:0021061,GARD:0022520,GARD:0022103,,Rare ophthalmic disorder +GARD:0021062,GARD:0022535,GARD:0019795,,Rare neoplastic disease +GARD:0021062,GARD:0022536,GARD:0021064,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021062,GARD:0022535,GARD:0019406,,Rare neoplastic disease +GARD:0021062,GARD:0022522,GARD:0021064,,Rare hematologic disease +GARD:0021062,GARD:0022520,GARD:0019795,,Rare ophthalmic disorder +GARD:0021062,GARD:0022535,GARD:0021064,,Rare neoplastic disease +GARD:0021062,GARD:0022524,GARD:0019406,,Rare neurologic disease +GARD:0021063,GARD:0022520,GARD:0019795,,Rare ophthalmic disorder +GARD:0021063,GARD:0022522,GARD:0021064,,Rare hematologic disease +GARD:0021063,GARD:0022535,GARD:0021064,,Rare neoplastic disease +GARD:0021063,GARD:0022536,GARD:0021064,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021063,GARD:0022535,GARD:0019795,,Rare neoplastic disease +GARD:0021064,GARD:0022536,GARD:0020548,GARD:0021385,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021064,GARD:0022535,GARD:0020548,GARD:0021062,Rare neoplastic disease +GARD:0021064,GARD:0022536,GARD:0020548,GARD:0021426,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021064,GARD:0022522,GARD:0020548,GARD:0021063,Rare hematologic disease +GARD:0021064,GARD:0022522,GARD:0020548,GARD:0021426,Rare hematologic disease +GARD:0021064,GARD:0022535,GARD:0020548,GARD:0018698,Rare neoplastic disease +GARD:0021064,GARD:0022522,GARD:0020548,GARD:0009318,Rare hematologic disease +GARD:0021064,GARD:0022522,GARD:0020548,GARD:0021385,Rare hematologic disease +GARD:0021064,GARD:0022536,GARD:0020548,GARD:0018698,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021064,GARD:0022535,GARD:0020548,GARD:0018770,Rare neoplastic disease +GARD:0021064,GARD:0022536,GARD:0020548,GARD:0018770,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021064,GARD:0022535,GARD:0020548,GARD:0019359,Rare neoplastic disease +GARD:0021064,GARD:0022522,GARD:0020548,GARD:0021062,Rare hematologic disease +GARD:0021064,GARD:0022536,GARD:0020548,GARD:0021062,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021064,GARD:0022536,GARD:0020548,GARD:0019359,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021064,GARD:0022536,GARD:0020548,GARD:0021063,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021064,GARD:0022536,GARD:0020548,GARD:0009318,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021064,GARD:0022535,GARD:0020548,GARD:0021063,Rare neoplastic disease +GARD:0021064,GARD:0022522,GARD:0020548,GARD:0018770,Rare hematologic disease +GARD:0021064,GARD:0022522,GARD:0020548,GARD:0018698,Rare hematologic disease +GARD:0021064,GARD:0022522,GARD:0020548,GARD:0019359,Rare hematologic disease +GARD:0021064,GARD:0022535,GARD:0020548,GARD:0021385,Rare neoplastic disease +GARD:0021064,GARD:0022535,GARD:0020548,GARD:0009318,Rare neoplastic disease +GARD:0021064,GARD:0022535,GARD:0020548,GARD:0021426,Rare neoplastic disease +GARD:0021065,GARD:0022520,GARD:0019549,,Rare ophthalmic disorder +GARD:0021066,GARD:0022520,GARD:0004457,,Rare ophthalmic disorder +GARD:0021067,GARD:0022520,GARD:0010941,,Rare ophthalmic disorder +GARD:0021068,GARD:0022520,GARD:0008577,,Rare ophthalmic disorder +GARD:0021069,GARD:0022520,GARD:0019111,,Rare ophthalmic disorder +GARD:0021070,GARD:0022525,GARD:0005980,,Rare systemic or rheumatologic disease +GARD:0021070,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0021070,GARD:0022527,GARD:0005980,,Rare circulatory system disease +GARD:0021071,GARD:0022525,GARD:0005980,,Rare systemic or rheumatologic disease +GARD:0021071,GARD:0022527,GARD:0005980,,Rare circulatory system disease +GARD:0021072,GARD:0022513,GARD:0003188,,Rare developmental defect during embryogenesis +GARD:0021072,GARD:0022534,GARD:0003188,,Rare abdominal surgical disease +GARD:0021072,GARD:0022517,GARD:0003188,,Rare respiratory disease +GARD:0021072,GARD:0022528,GARD:0003188,,Rare otorhinolaryngologic disease +GARD:0021072,GARD:0022518,GARD:0003188,,Rare surgical thoracic disease +GARD:0021073,GARD:0022524,GARD:0004265,,Rare neurologic disease +GARD:0021073,GARD:0022520,GARD:0004265,,Rare ophthalmic disorder +GARD:0021073,GARD:0022531,GARD:0004265,,Rare genetic disease +GARD:0021074,GARD:0022524,GARD:0004265,,Rare neurologic disease +GARD:0021074,GARD:0022520,GARD:0004265,,Rare ophthalmic disorder +GARD:0021074,GARD:0022531,GARD:0004265,,Rare genetic disease +GARD:0021075,GARD:0022531,GARD:0004265,,Rare genetic disease +GARD:0021075,GARD:0022524,GARD:0004265,,Rare neurologic disease +GARD:0021075,GARD:0022520,GARD:0004265,,Rare ophthalmic disorder +GARD:0021076,GARD:0022525,GARD:0022391,,Rare systemic or rheumatologic disease +GARD:0021076,GARD:0022525,GARD:0010911,,Rare systemic or rheumatologic disease +GARD:0021076,GARD:0022516,GARD:0010911,,Rare gastroenterologic disease +GARD:0021077,GARD:0022525,GARD:0010911,,Rare systemic or rheumatologic disease +GARD:0021077,GARD:0022516,GARD:0010911,,Rare gastroenterologic disease +GARD:0021078,GARD:0022531,GARD:0021404,,Rare genetic disease +GARD:0021078,GARD:0022513,GARD:0021404,,Rare developmental defect during embryogenesis +GARD:0021079,GARD:0021079,,GARD:0021081,Rare systemic or rheumatological disease of childhood +GARD:0021079,GARD:0021079,,GARD:0021082,Rare systemic or rheumatological disease of childhood +GARD:0021079,GARD:0021079,,GARD:0021997,Rare systemic or rheumatological disease of childhood +GARD:0021080,GARD:0022521,GARD:0020214,,Rare endocrine disease +GARD:0021080,GARD:0022531,GARD:0020214,,Rare genetic disease +GARD:0021080,GARD:0022531,GARD:0021242,,Rare genetic disease +GARD:0021080,GARD:0022531,GARD:0011962,,Rare genetic disease +GARD:0021080,GARD:0022510,GARD:0011962,,Rare skin disease +GARD:0021080,GARD:0022521,GARD:0011962,,Rare endocrine disease +GARD:0021081,GARD:0021079,GARD:0021079,GARD:0012357,Rare systemic or rheumatological disease of childhood +GARD:0021081,GARD:0021079,GARD:0021079,GARD:0013011,Rare systemic or rheumatological disease of childhood +GARD:0021081,GARD:0021079,GARD:0021079,GARD:0012383,Rare systemic or rheumatological disease of childhood +GARD:0021081,GARD:0021079,GARD:0021079,GARD:0021863,Rare systemic or rheumatological disease of childhood +GARD:0021081,GARD:0021079,GARD:0021079,GARD:0006386,Rare systemic or rheumatological disease of childhood +GARD:0021081,GARD:0021079,GARD:0021079,GARD:0008204,Rare systemic or rheumatological disease of childhood +GARD:0021081,GARD:0021079,GARD:0021079,GARD:0020698,Rare systemic or rheumatological disease of childhood +GARD:0021081,GARD:0021079,GARD:0021079,GARD:0006725,Rare systemic or rheumatological disease of childhood +GARD:0021081,GARD:0021079,GARD:0021079,GARD:0007730,Rare systemic or rheumatological disease of childhood +GARD:0021081,GARD:0021079,GARD:0021079,GARD:0001421,Rare systemic or rheumatological disease of childhood +GARD:0021081,GARD:0021079,GARD:0021079,GARD:0006816,Rare systemic or rheumatological disease of childhood +GARD:0021082,GARD:0021079,GARD:0021079,GARD:0012742,Rare systemic or rheumatological disease of childhood +GARD:0021082,GARD:0021079,GARD:0021079,GARD:0019219,Rare systemic or rheumatological disease of childhood +GARD:0021082,GARD:0021079,GARD:0021079,GARD:0009748,Rare systemic or rheumatological disease of childhood +GARD:0021082,GARD:0021079,GARD:0021079,GARD:0020696,Rare systemic or rheumatological disease of childhood +GARD:0021082,GARD:0021079,GARD:0021079,GARD:0006805,Rare systemic or rheumatological disease of childhood +GARD:0021082,GARD:0021079,GARD:0021079,GARD:0017369,Rare systemic or rheumatological disease of childhood +GARD:0021082,GARD:0021079,GARD:0021079,GARD:0020699,Rare systemic or rheumatological disease of childhood +GARD:0021082,GARD:0021079,GARD:0021079,GARD:0006351,Rare systemic or rheumatological disease of childhood +GARD:0021082,GARD:0021079,GARD:0021079,GARD:0021643,Rare systemic or rheumatological disease of childhood +GARD:0021082,GARD:0021079,GARD:0021079,GARD:0017762,Rare systemic or rheumatological disease of childhood +GARD:0021082,GARD:0021079,GARD:0021079,GARD:0017737,Rare systemic or rheumatological disease of childhood +GARD:0021082,GARD:0021079,GARD:0021079,GARD:0007607,Rare systemic or rheumatological disease of childhood +GARD:0021082,GARD:0021079,GARD:0021079,GARD:0017766,Rare systemic or rheumatological disease of childhood +GARD:0021083,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0021083,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0021084,GARD:0022524,GARD:0021085,,Rare neurologic disease +GARD:0021084,GARD:0022531,GARD:0021085,,Rare genetic disease +GARD:0021085,GARD:0022531,GARD:0021039,GARD:0017307,Rare genetic disease +GARD:0021085,GARD:0022524,GARD:0018851,GARD:0017307,Rare neurologic disease +GARD:0021085,GARD:0022524,GARD:0018851,GARD:0021084,Rare neurologic disease +GARD:0021085,GARD:0022531,GARD:0021039,GARD:0007690,Rare genetic disease +GARD:0021085,GARD:0022524,GARD:0018851,GARD:0016985,Rare neurologic disease +GARD:0021085,GARD:0022531,GARD:0021039,GARD:0021084,Rare genetic disease +GARD:0021085,GARD:0022531,GARD:0021039,GARD:0016985,Rare genetic disease +GARD:0021085,GARD:0022524,GARD:0018851,GARD:0021632,Rare neurologic disease +GARD:0021085,GARD:0022524,GARD:0018851,GARD:0007690,Rare neurologic disease +GARD:0021085,GARD:0022531,GARD:0021039,GARD:0006429,Rare genetic disease +GARD:0021085,GARD:0022531,GARD:0021039,GARD:0021632,Rare genetic disease +GARD:0021085,GARD:0022524,GARD:0018851,GARD:0006429,Rare neurologic disease +GARD:0021086,GARD:0022531,GARD:0020290,,Rare genetic disease +GARD:0021086,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0021086,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0021087,GARD:0022510,GARD:0019008,,Rare skin disease +GARD:0021088,GARD:0022522,GARD:0012686,,Rare hematologic disease +GARD:0021088,GARD:0022535,GARD:0012686,,Rare neoplastic disease +GARD:0021088,GARD:0022510,GARD:0012686,,Rare skin disease +GARD:0021089,GARD:0022522,GARD:0012686,,Rare hematologic disease +GARD:0021089,GARD:0022510,GARD:0012686,,Rare skin disease +GARD:0021089,GARD:0022535,GARD:0012686,,Rare neoplastic disease +GARD:0021090,GARD:0022517,GARD:0004593,,Rare respiratory disease +GARD:0021090,GARD:0022518,GARD:0004593,,Rare surgical thoracic disease +GARD:0021090,GARD:0022513,GARD:0004593,,Rare developmental defect during embryogenesis +GARD:0021091,GARD:0022517,GARD:0004593,,Rare respiratory disease +GARD:0021091,GARD:0022513,GARD:0004593,,Rare developmental defect during embryogenesis +GARD:0021091,GARD:0022518,GARD:0004593,,Rare surgical thoracic disease +GARD:0021092,GARD:0022513,GARD:0004593,,Rare developmental defect during embryogenesis +GARD:0021092,GARD:0022518,GARD:0004593,,Rare surgical thoracic disease +GARD:0021092,GARD:0022517,GARD:0004593,,Rare respiratory disease +GARD:0021093,GARD:0022518,GARD:0018772,,Rare surgical thoracic disease +GARD:0021093,GARD:0022513,GARD:0018772,,Rare developmental defect during embryogenesis +GARD:0021093,GARD:0022517,GARD:0018772,,Rare respiratory disease +GARD:0021094,GARD:0022513,GARD:0018772,,Rare developmental defect during embryogenesis +GARD:0021094,GARD:0022518,GARD:0018772,,Rare surgical thoracic disease +GARD:0021094,GARD:0022517,GARD:0018772,,Rare respiratory disease +GARD:0021095,GARD:0022518,GARD:0018772,,Rare surgical thoracic disease +GARD:0021095,GARD:0022513,GARD:0018772,,Rare developmental defect during embryogenesis +GARD:0021095,GARD:0022517,GARD:0018772,,Rare respiratory disease +GARD:0021096,GARD:0022518,GARD:0018772,,Rare surgical thoracic disease +GARD:0021096,GARD:0022517,GARD:0018772,,Rare respiratory disease +GARD:0021096,GARD:0022513,GARD:0018772,,Rare developmental defect during embryogenesis +GARD:0021097,GARD:0022518,GARD:0018772,,Rare surgical thoracic disease +GARD:0021097,GARD:0022513,GARD:0018772,,Rare developmental defect during embryogenesis +GARD:0021097,GARD:0022517,GARD:0018772,,Rare respiratory disease +GARD:0021098,GARD:0022520,GARD:0010941,,Rare ophthalmic disorder +GARD:0021099,GARD:0022520,GARD:0019111,,Rare ophthalmic disorder +GARD:0021100,GARD:0022520,GARD:0008577,,Rare ophthalmic disorder +GARD:0021101,GARD:0022520,GARD:0010941,GARD:0006100,Rare ophthalmic disorder +GARD:0021101,GARD:0022520,GARD:0010941,GARD:0004261,Rare ophthalmic disorder +GARD:0021101,GARD:0022520,GARD:0010941,GARD:0007607,Rare ophthalmic disorder +GARD:0021101,GARD:0022520,GARD:0010941,GARD:0000848,Rare ophthalmic disorder +GARD:0021101,GARD:0022520,GARD:0010941,GARD:0003931,Rare ophthalmic disorder +GARD:0021101,GARD:0022520,GARD:0010941,GARD:0009252,Rare ophthalmic disorder +GARD:0021101,GARD:0022520,GARD:0010941,GARD:0001356,Rare ophthalmic disorder +GARD:0021101,GARD:0022520,GARD:0010941,GARD:0000304,Rare ophthalmic disorder +GARD:0021101,GARD:0022520,GARD:0010941,GARD:0010969,Rare ophthalmic disorder +GARD:0021102,GARD:0022520,GARD:0004457,GARD:0007607,Rare ophthalmic disorder +GARD:0021102,GARD:0022520,GARD:0004457,GARD:0000848,Rare ophthalmic disorder +GARD:0021102,GARD:0022520,GARD:0004457,GARD:0006100,Rare ophthalmic disorder +GARD:0021103,GARD:0022520,GARD:0008577,GARD:0000304,Rare ophthalmic disorder +GARD:0021103,GARD:0022520,GARD:0008577,GARD:0000848,Rare ophthalmic disorder +GARD:0021103,GARD:0022520,GARD:0008577,GARD:0007607,Rare ophthalmic disorder +GARD:0021103,GARD:0022520,GARD:0008577,GARD:0006100,Rare ophthalmic disorder +GARD:0021104,GARD:0022510,GARD:0020261,GARD:0016528,Rare skin disease +GARD:0021104,GARD:0022531,GARD:0020261,GARD:0017764,Rare genetic disease +GARD:0021104,GARD:0022531,GARD:0020261,GARD:0016719,Rare genetic disease +GARD:0021104,GARD:0022510,GARD:0020261,GARD:0007347,Rare skin disease +GARD:0021104,GARD:0022510,GARD:0020261,GARD:0016719,Rare skin disease +GARD:0021104,GARD:0022510,GARD:0020261,GARD:0017764,Rare skin disease +GARD:0021104,GARD:0022531,GARD:0020261,GARD:0007904,Rare genetic disease +GARD:0021104,GARD:0022531,GARD:0020261,GARD:0021107,Rare genetic disease +GARD:0021104,GARD:0022531,GARD:0020261,GARD:0021106,Rare genetic disease +GARD:0021104,GARD:0022531,GARD:0020261,GARD:0007347,Rare genetic disease +GARD:0021104,GARD:0022510,GARD:0020261,GARD:0007904,Rare skin disease +GARD:0021104,GARD:0022510,GARD:0020261,GARD:0021106,Rare skin disease +GARD:0021104,GARD:0022510,GARD:0020261,GARD:0021107,Rare skin disease +GARD:0021104,GARD:0022531,GARD:0020261,GARD:0017306,Rare genetic disease +GARD:0021104,GARD:0022510,GARD:0020261,GARD:0017306,Rare skin disease +GARD:0021104,GARD:0022531,GARD:0020261,GARD:0016528,Rare genetic disease +GARD:0021105,GARD:0022531,GARD:0020261,GARD:0021109,Rare genetic disease +GARD:0021105,GARD:0022510,GARD:0020261,GARD:0021110,Rare skin disease +GARD:0021105,GARD:0022531,GARD:0020261,GARD:0021110,Rare genetic disease +GARD:0021105,GARD:0022510,GARD:0020261,GARD:0021109,Rare skin disease +GARD:0021106,GARD:0022513,GARD:0019503,GARD:0021108,Rare developmental defect during embryogenesis +GARD:0021106,GARD:0022513,GARD:0019503,GARD:0010803,Rare developmental defect during embryogenesis +GARD:0021106,GARD:0022520,GARD:0019503,GARD:0017303,Rare ophthalmic disorder +GARD:0021106,GARD:0022510,GARD:0021104,GARD:0016938,Rare skin disease +GARD:0021106,GARD:0022510,GARD:0021104,GARD:0009736,Rare skin disease +GARD:0021106,GARD:0022531,GARD:0019503,GARD:0010803,Rare genetic disease +GARD:0021106,GARD:0022531,GARD:0019503,GARD:0016938,Rare genetic disease +GARD:0021106,GARD:0022531,GARD:0019503,GARD:0021108,Rare genetic disease +GARD:0021106,GARD:0022531,GARD:0019503,GARD:0006568,Rare genetic disease +GARD:0021106,GARD:0022520,GARD:0019503,GARD:0009736,Rare ophthalmic disorder +GARD:0021106,GARD:0022531,GARD:0021104,GARD:0006568,Rare genetic disease +GARD:0021106,GARD:0022520,GARD:0019503,GARD:0006568,Rare ophthalmic disorder +GARD:0021106,GARD:0022531,GARD:0019503,GARD:0017329,Rare genetic disease +GARD:0021106,GARD:0022531,GARD:0021104,GARD:0017329,Rare genetic disease +GARD:0021106,GARD:0022520,GARD:0019503,GARD:0016938,Rare ophthalmic disorder +GARD:0021106,GARD:0022520,GARD:0019503,GARD:0010803,Rare ophthalmic disorder +GARD:0021106,GARD:0022520,GARD:0019503,GARD:0017329,Rare ophthalmic disorder +GARD:0021106,GARD:0022513,GARD:0019503,GARD:0009736,Rare developmental defect during embryogenesis +GARD:0021106,GARD:0022531,GARD:0021104,GARD:0016938,Rare genetic disease +GARD:0021106,GARD:0022510,GARD:0021104,GARD:0017303,Rare skin disease +GARD:0021106,GARD:0022531,GARD:0021104,GARD:0021108,Rare genetic disease +GARD:0021106,GARD:0022513,GARD:0019503,GARD:0006568,Rare developmental defect during embryogenesis +GARD:0021106,GARD:0022531,GARD:0019503,GARD:0009736,Rare genetic disease +GARD:0021106,GARD:0022531,GARD:0021104,GARD:0009736,Rare genetic disease +GARD:0021106,GARD:0022513,GARD:0019503,GARD:0017329,Rare developmental defect during embryogenesis +GARD:0021106,GARD:0022520,GARD:0019503,GARD:0021108,Rare ophthalmic disorder +GARD:0021106,GARD:0022531,GARD:0021104,GARD:0017303,Rare genetic disease +GARD:0021106,GARD:0022531,GARD:0019503,GARD:0017303,Rare genetic disease +GARD:0021106,GARD:0022531,GARD:0021104,GARD:0010803,Rare genetic disease +GARD:0021106,GARD:0022510,GARD:0021104,GARD:0021108,Rare skin disease +GARD:0021106,GARD:0022513,GARD:0019503,GARD:0016938,Rare developmental defect during embryogenesis +GARD:0021106,GARD:0022513,GARD:0019503,GARD:0017303,Rare developmental defect during embryogenesis +GARD:0021106,GARD:0022510,GARD:0021104,GARD:0017329,Rare skin disease +GARD:0021106,GARD:0022510,GARD:0021104,GARD:0006568,Rare skin disease +GARD:0021106,GARD:0022510,GARD:0021104,GARD:0010803,Rare skin disease +GARD:0021107,GARD:0022510,GARD:0021104,GARD:0022016,Rare skin disease +GARD:0021107,GARD:0022531,GARD:0021104,GARD:0017304,Rare genetic disease +GARD:0021107,GARD:0022510,GARD:0021104,GARD:0001039,Rare skin disease +GARD:0021107,GARD:0022531,GARD:0021104,GARD:0022016,Rare genetic disease +GARD:0021107,GARD:0022510,GARD:0021104,GARD:0002954,Rare skin disease +GARD:0021107,GARD:0022531,GARD:0021104,GARD:0001039,Rare genetic disease +GARD:0021107,GARD:0022531,GARD:0021104,GARD:0017305,Rare genetic disease +GARD:0021107,GARD:0022510,GARD:0021104,GARD:0017305,Rare skin disease +GARD:0021107,GARD:0022531,GARD:0021104,GARD:0002966,Rare genetic disease +GARD:0021107,GARD:0022531,GARD:0021104,GARD:0022074,Rare genetic disease +GARD:0021107,GARD:0022510,GARD:0021104,GARD:0017304,Rare skin disease +GARD:0021107,GARD:0022510,GARD:0021104,GARD:0002966,Rare skin disease +GARD:0021107,GARD:0022531,GARD:0021104,GARD:0002954,Rare genetic disease +GARD:0021107,GARD:0022510,GARD:0021104,GARD:0022074,Rare skin disease +GARD:0021108,GARD:0022531,GARD:0021106,,Rare genetic disease +GARD:0021108,GARD:0022510,GARD:0021106,,Rare skin disease +GARD:0021108,GARD:0022520,GARD:0021106,,Rare ophthalmic disorder +GARD:0021108,GARD:0022513,GARD:0021106,,Rare developmental defect during embryogenesis +GARD:0021109,GARD:0022510,GARD:0021105,GARD:0017302,Rare skin disease +GARD:0021109,GARD:0022531,GARD:0021105,GARD:0017302,Rare genetic disease +GARD:0021109,GARD:0022510,GARD:0021105,GARD:0006039,Rare skin disease +GARD:0021109,GARD:0022531,GARD:0021105,GARD:0006039,Rare genetic disease +GARD:0021109,GARD:0022531,GARD:0021105,GARD:0006189,Rare genetic disease +GARD:0021109,GARD:0022531,GARD:0021105,GARD:0002952,Rare genetic disease +GARD:0021109,GARD:0022510,GARD:0021105,GARD:0006189,Rare skin disease +GARD:0021109,GARD:0022510,GARD:0021105,GARD:0002952,Rare skin disease +GARD:0021110,GARD:0022510,GARD:0021105,GARD:0021112,Rare skin disease +GARD:0021110,GARD:0022531,GARD:0021105,GARD:0021112,Rare genetic disease +GARD:0021110,GARD:0022510,GARD:0021105,GARD:0021114,Rare skin disease +GARD:0021110,GARD:0022531,GARD:0021105,GARD:0021113,Rare genetic disease +GARD:0021110,GARD:0022510,GARD:0021105,GARD:0021113,Rare skin disease +GARD:0021110,GARD:0022510,GARD:0021105,GARD:0021111,Rare skin disease +GARD:0021110,GARD:0022531,GARD:0021105,GARD:0021111,Rare genetic disease +GARD:0021110,GARD:0022531,GARD:0021105,GARD:0021114,Rare genetic disease +GARD:0021111,GARD:0022531,GARD:0021110,GARD:0010583,Rare genetic disease +GARD:0021111,GARD:0022531,GARD:0021110,GARD:0012109,Rare genetic disease +GARD:0021111,GARD:0022510,GARD:0021110,GARD:0007182,Rare skin disease +GARD:0021111,GARD:0022510,GARD:0021110,GARD:0010116,Rare skin disease +GARD:0021111,GARD:0022510,GARD:0021110,GARD:0010583,Rare skin disease +GARD:0021111,GARD:0022531,GARD:0021110,GARD:0007182,Rare genetic disease +GARD:0021111,GARD:0022531,GARD:0021110,GARD:0010116,Rare genetic disease +GARD:0021111,GARD:0022510,GARD:0021110,GARD:0012109,Rare skin disease +GARD:0021112,GARD:0022531,GARD:0021110,GARD:0001489,Rare genetic disease +GARD:0021112,GARD:0022510,GARD:0021110,GARD:0017515,Rare skin disease +GARD:0021112,GARD:0022531,GARD:0021110,GARD:0005691,Rare genetic disease +GARD:0021112,GARD:0022510,GARD:0021110,GARD:0000102,Rare skin disease +GARD:0021112,GARD:0022510,GARD:0021110,GARD:0001489,Rare skin disease +GARD:0021112,GARD:0022531,GARD:0021110,GARD:0000292,Rare genetic disease +GARD:0021112,GARD:0022531,GARD:0021110,GARD:0017515,Rare genetic disease +GARD:0021112,GARD:0022510,GARD:0021110,GARD:0000292,Rare skin disease +GARD:0021112,GARD:0022510,GARD:0021110,GARD:0017072,Rare skin disease +GARD:0021112,GARD:0022531,GARD:0021110,GARD:0007654,Rare genetic disease +GARD:0021112,GARD:0022531,GARD:0021110,GARD:0000102,Rare genetic disease +GARD:0021112,GARD:0022510,GARD:0021110,GARD:0005691,Rare skin disease +GARD:0021112,GARD:0022531,GARD:0021110,GARD:0017072,Rare genetic disease +GARD:0021112,GARD:0022510,GARD:0021110,GARD:0007654,Rare skin disease +GARD:0021113,GARD:0022531,GARD:0021110,GARD:0000794,Rare genetic disease +GARD:0021113,GARD:0022510,GARD:0021110,GARD:0005061,Rare skin disease +GARD:0021113,GARD:0022531,GARD:0021110,GARD:0000102,Rare genetic disease +GARD:0021113,GARD:0022531,GARD:0021110,GARD:0005061,Rare genetic disease +GARD:0021113,GARD:0022531,GARD:0021110,GARD:0010675,Rare genetic disease +GARD:0021113,GARD:0022510,GARD:0021110,GARD:0000102,Rare skin disease +GARD:0021113,GARD:0022510,GARD:0021110,GARD:0010675,Rare skin disease +GARD:0021113,GARD:0022531,GARD:0021110,GARD:0009940,Rare genetic disease +GARD:0021113,GARD:0022510,GARD:0021110,GARD:0009940,Rare skin disease +GARD:0021113,GARD:0022510,GARD:0021110,GARD:0000794,Rare skin disease +GARD:0021114,GARD:0022510,GARD:0021110,GARD:0012315,Rare skin disease +GARD:0021114,GARD:0022510,GARD:0021110,GARD:0004641,Rare skin disease +GARD:0021114,GARD:0022531,GARD:0021110,GARD:0004641,Rare genetic disease +GARD:0021114,GARD:0022510,GARD:0021110,GARD:0018787,Rare skin disease +GARD:0021114,GARD:0022531,GARD:0021110,GARD:0001993,Rare genetic disease +GARD:0021114,GARD:0022531,GARD:0021110,GARD:0012393,Rare genetic disease +GARD:0021114,GARD:0022510,GARD:0021110,GARD:0000345,Rare skin disease +GARD:0021114,GARD:0022510,GARD:0021110,GARD:0001993,Rare skin disease +GARD:0021114,GARD:0022510,GARD:0021110,GARD:0009904,Rare skin disease +GARD:0021114,GARD:0022531,GARD:0021110,GARD:0003979,Rare genetic disease +GARD:0021114,GARD:0022510,GARD:0021110,GARD:0017579,Rare skin disease +GARD:0021114,GARD:0022510,GARD:0021110,GARD:0002960,Rare skin disease +GARD:0021114,GARD:0022531,GARD:0021110,GARD:0002960,Rare genetic disease +GARD:0021114,GARD:0022531,GARD:0021110,GARD:0009886,Rare genetic disease +GARD:0021114,GARD:0022531,GARD:0021110,GARD:0018787,Rare genetic disease +GARD:0021114,GARD:0022531,GARD:0021110,GARD:0000345,Rare genetic disease +GARD:0021114,GARD:0022510,GARD:0021110,GARD:0009886,Rare skin disease +GARD:0021114,GARD:0022510,GARD:0021110,GARD:0012393,Rare skin disease +GARD:0021114,GARD:0022510,GARD:0021110,GARD:0003113,Rare skin disease +GARD:0021114,GARD:0022531,GARD:0021110,GARD:0017579,Rare genetic disease +GARD:0021114,GARD:0022531,GARD:0021110,GARD:0003113,Rare genetic disease +GARD:0021114,GARD:0022531,GARD:0021110,GARD:0009904,Rare genetic disease +GARD:0021114,GARD:0022510,GARD:0021110,GARD:0003979,Rare skin disease +GARD:0021114,GARD:0022531,GARD:0021110,GARD:0012315,Rare genetic disease +GARD:0021115,GARD:0022513,GARD:0019422,GARD:0021404,Rare developmental defect during embryogenesis +GARD:0021115,GARD:0022513,GARD:0019422,GARD:0020800,Rare developmental defect during embryogenesis +GARD:0021115,GARD:0022531,GARD:0019422,GARD:0021404,Rare genetic disease +GARD:0021115,GARD:0022531,GARD:0019422,GARD:0020800,Rare genetic disease +GARD:0021116,GARD:0022521,GARD:0019800,GARD:0008466,Rare endocrine disease +GARD:0021116,GARD:0022521,GARD:0019800,GARD:0020567,Rare endocrine disease +GARD:0021116,GARD:0022521,GARD:0019800,GARD:0010980,Rare endocrine disease +GARD:0021116,GARD:0022521,GARD:0019800,GARD:0007611,Rare endocrine disease +GARD:0021117,GARD:0022531,GARD:0012421,,Rare genetic disease +GARD:0021117,GARD:0022513,GARD:0012421,,Rare developmental defect during embryogenesis +GARD:0021117,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021117,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021117,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021118,GARD:0022535,GARD:0008757,,Rare neoplastic disease +GARD:0021118,GARD:0022517,GARD:0008757,,Rare respiratory disease +GARD:0021119,GARD:0022531,GARD:0019790,GARD:0020048,Rare genetic disease +GARD:0021119,GARD:0022506,GARD:0019790,GARD:0012185,Rare hepatic disease +GARD:0021119,GARD:0022531,GARD:0019790,GARD:0012185,Rare genetic disease +GARD:0021119,GARD:0022506,GARD:0019790,GARD:0015255,Rare hepatic disease +GARD:0021119,GARD:0022536,GARD:0022060,GARD:0020048,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021119,GARD:0022536,GARD:0022060,GARD:0012185,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021119,GARD:0022536,GARD:0022060,GARD:0015255,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021119,GARD:0022531,GARD:0019790,GARD:0015255,Rare genetic disease +GARD:0021119,GARD:0022506,GARD:0019790,GARD:0020048,Rare hepatic disease +GARD:0021120,GARD:0022517,GARD:0019794,,Rare respiratory disease +GARD:0021120,GARD:0022535,GARD:0019794,,Rare neoplastic disease +GARD:0021121,GARD:0022520,GARD:0022103,,Rare ophthalmic disorder +GARD:0021122,GARD:0022531,GARD:0020388,GARD:0008334,Rare genetic disease +GARD:0021123,GARD:0022531,GARD:0020388,GARD:0011915,Rare genetic disease +GARD:0021123,GARD:0022531,GARD:0020388,GARD:0012823,Rare genetic disease +GARD:0021123,GARD:0022531,GARD:0020388,GARD:0007171,Rare genetic disease +GARD:0021123,GARD:0022531,GARD:0020388,GARD:0021956,Rare genetic disease +GARD:0021123,GARD:0022531,GARD:0020388,GARD:0006161,Rare genetic disease +GARD:0021123,GARD:0022531,GARD:0020388,GARD:0012822,Rare genetic disease +GARD:0021124,GARD:0022531,GARD:0021528,GARD:0008471,Rare genetic disease +GARD:0021124,GARD:0022520,GARD:0019548,GARD:0000592,Rare ophthalmic disorder +GARD:0021124,GARD:0022520,GARD:0019548,GARD:0008471,Rare ophthalmic disorder +GARD:0021124,GARD:0022531,GARD:0019548,GARD:0000592,Rare genetic disease +GARD:0021124,GARD:0022531,GARD:0021528,GARD:0000592,Rare genetic disease +GARD:0021124,GARD:0022508,GARD:0021528,GARD:0008471,Rare inborn errors of metabolism +GARD:0021124,GARD:0022508,GARD:0021528,GARD:0000592,Rare inborn errors of metabolism +GARD:0021124,GARD:0022531,GARD:0019548,GARD:0008471,Rare genetic disease +GARD:0021125,GARD:0022531,GARD:0020271,GARD:0010913,Rare genetic disease +GARD:0021125,GARD:0022531,GARD:0020271,GARD:0006643,Rare genetic disease +GARD:0021125,GARD:0022520,GARD:0019548,GARD:0000105,Rare ophthalmic disorder +GARD:0021125,GARD:0022531,GARD:0020271,GARD:0006035,Rare genetic disease +GARD:0021125,GARD:0022520,GARD:0019548,GARD:0004034,Rare ophthalmic disorder +GARD:0021125,GARD:0022510,GARD:0019005,GARD:0018021,Rare skin disease +GARD:0021125,GARD:0022531,GARD:0019548,GARD:0018021,Rare genetic disease +GARD:0021125,GARD:0022531,GARD:0020271,GARD:0000105,Rare genetic disease +GARD:0021125,GARD:0022531,GARD:0020271,GARD:0004034,Rare genetic disease +GARD:0021125,GARD:0022510,GARD:0019005,GARD:0006035,Rare skin disease +GARD:0021125,GARD:0022531,GARD:0019548,GARD:0010913,Rare genetic disease +GARD:0021125,GARD:0022531,GARD:0019548,GARD:0004034,Rare genetic disease +GARD:0021125,GARD:0022510,GARD:0019005,GARD:0006643,Rare skin disease +GARD:0021125,GARD:0022520,GARD:0019548,GARD:0018021,Rare ophthalmic disorder +GARD:0021125,GARD:0022520,GARD:0019548,GARD:0010913,Rare ophthalmic disorder +GARD:0021125,GARD:0022531,GARD:0019548,GARD:0006643,Rare genetic disease +GARD:0021125,GARD:0022531,GARD:0019548,GARD:0000105,Rare genetic disease +GARD:0021125,GARD:0022510,GARD:0019005,GARD:0000105,Rare skin disease +GARD:0021125,GARD:0022520,GARD:0019548,GARD:0006643,Rare ophthalmic disorder +GARD:0021125,GARD:0022510,GARD:0019005,GARD:0004034,Rare skin disease +GARD:0021125,GARD:0022510,GARD:0019005,GARD:0010913,Rare skin disease +GARD:0021125,GARD:0022531,GARD:0020271,GARD:0018021,Rare genetic disease +GARD:0021125,GARD:0022520,GARD:0019548,GARD:0006035,Rare ophthalmic disorder +GARD:0021125,GARD:0022531,GARD:0019548,GARD:0006035,Rare genetic disease +GARD:0021126,GARD:0022508,GARD:0018964,GARD:0007383,Rare inborn errors of metabolism +GARD:0021126,GARD:0022508,GARD:0018964,GARD:0003413,Rare inborn errors of metabolism +GARD:0021126,GARD:0022531,GARD:0018964,GARD:0003413,Rare genetic disease +GARD:0021126,GARD:0022531,GARD:0018964,GARD:0007383,Rare genetic disease +GARD:0021127,GARD:0022531,GARD:0018964,GARD:0010332,Rare genetic disease +GARD:0021127,GARD:0022508,GARD:0018964,GARD:0010332,Rare inborn errors of metabolism +GARD:0021127,GARD:0022531,GARD:0018964,GARD:0005388,Rare genetic disease +GARD:0021127,GARD:0022531,GARD:0018964,GARD:0003105,Rare genetic disease +GARD:0021127,GARD:0022531,GARD:0018964,GARD:0005775,Rare genetic disease +GARD:0021127,GARD:0022508,GARD:0018964,GARD:0003105,Rare inborn errors of metabolism +GARD:0021127,GARD:0022508,GARD:0018964,GARD:0005668,Rare inborn errors of metabolism +GARD:0021127,GARD:0022531,GARD:0018964,GARD:0005668,Rare genetic disease +GARD:0021127,GARD:0022508,GARD:0018964,GARD:0002658,Rare inborn errors of metabolism +GARD:0021127,GARD:0022508,GARD:0018964,GARD:0005388,Rare inborn errors of metabolism +GARD:0021127,GARD:0022508,GARD:0018964,GARD:0005775,Rare inborn errors of metabolism +GARD:0021127,GARD:0022531,GARD:0018964,GARD:0001902,Rare genetic disease +GARD:0021127,GARD:0022531,GARD:0018964,GARD:0002658,Rare genetic disease +GARD:0021127,GARD:0022508,GARD:0018964,GARD:0001902,Rare inborn errors of metabolism +GARD:0021128,GARD:0022518,GARD:0021130,,Rare surgical thoracic disease +GARD:0021128,GARD:0022531,GARD:0021129,,Rare genetic disease +GARD:0021128,GARD:0022531,GARD:0021130,,Rare genetic disease +GARD:0021128,GARD:0022525,GARD:0021129,,Rare systemic or rheumatologic disease +GARD:0021128,GARD:0022527,GARD:0021130,,Rare circulatory system disease +GARD:0021129,GARD:0022531,GARD:0022459,GARD:0012251,Rare genetic disease +GARD:0021129,GARD:0022525,GARD:0020255,GARD:0010788,Rare systemic or rheumatologic disease +GARD:0021129,GARD:0022525,GARD:0020255,GARD:0022490,Rare systemic or rheumatologic disease +GARD:0021129,GARD:0022525,GARD:0020255,GARD:0005899,Rare systemic or rheumatologic disease +GARD:0021129,GARD:0022531,GARD:0022459,GARD:0010788,Rare genetic disease +GARD:0021129,GARD:0022525,GARD:0020255,GARD:0002249,Rare systemic or rheumatologic disease +GARD:0021129,GARD:0022525,GARD:0020255,GARD:0010997,Rare systemic or rheumatologic disease +GARD:0021129,GARD:0022531,GARD:0022459,GARD:0016535,Rare genetic disease +GARD:0021129,GARD:0022525,GARD:0020255,GARD:0021128,Rare systemic or rheumatologic disease +GARD:0021129,GARD:0022525,GARD:0020255,GARD:0016535,Rare systemic or rheumatologic disease +GARD:0021129,GARD:0022531,GARD:0022459,GARD:0017069,Rare genetic disease +GARD:0021129,GARD:0022531,GARD:0022459,GARD:0021128,Rare genetic disease +GARD:0021129,GARD:0022525,GARD:0020255,GARD:0012251,Rare systemic or rheumatologic disease +GARD:0021129,GARD:0022531,GARD:0022459,GARD:0002249,Rare genetic disease +GARD:0021129,GARD:0022525,GARD:0020255,GARD:0004861,Rare systemic or rheumatologic disease +GARD:0021129,GARD:0022525,GARD:0020255,GARD:0017069,Rare systemic or rheumatologic disease +GARD:0021129,GARD:0022531,GARD:0022459,GARD:0022490,Rare genetic disease +GARD:0021129,GARD:0022531,GARD:0022459,GARD:0004861,Rare genetic disease +GARD:0021129,GARD:0022531,GARD:0022459,GARD:0005899,Rare genetic disease +GARD:0021129,GARD:0022531,GARD:0022459,GARD:0010997,Rare genetic disease +GARD:0021130,GARD:0022527,GARD:0020628,GARD:0017670,Rare circulatory system disease +GARD:0021130,GARD:0022531,GARD:0020628,GARD:0000774,Rare genetic disease +GARD:0021130,GARD:0022531,GARD:0020628,GARD:0001654,Rare genetic disease +GARD:0021130,GARD:0022518,GARD:0022518,GARD:0002082,Rare surgical thoracic disease +GARD:0021130,GARD:0022518,GARD:0022518,GARD:0022490,Rare surgical thoracic disease +GARD:0021130,GARD:0022527,GARD:0020628,GARD:0016535,Rare circulatory system disease +GARD:0021130,GARD:0022531,GARD:0020628,GARD:0016535,Rare genetic disease +GARD:0021130,GARD:0022531,GARD:0020628,GARD:0010997,Rare genetic disease +GARD:0021130,GARD:0022518,GARD:0022518,GARD:0010788,Rare surgical thoracic disease +GARD:0021130,GARD:0022531,GARD:0020628,GARD:0022490,Rare genetic disease +GARD:0021130,GARD:0022518,GARD:0022518,GARD:0010997,Rare surgical thoracic disease +GARD:0021130,GARD:0022518,GARD:0022518,GARD:0017670,Rare surgical thoracic disease +GARD:0021130,GARD:0022527,GARD:0020628,GARD:0000774,Rare circulatory system disease +GARD:0021130,GARD:0022518,GARD:0022518,GARD:0021128,Rare surgical thoracic disease +GARD:0021130,GARD:0022518,GARD:0022518,GARD:0012811,Rare surgical thoracic disease +GARD:0021130,GARD:0022527,GARD:0020628,GARD:0010788,Rare circulatory system disease +GARD:0021130,GARD:0022527,GARD:0020628,GARD:0012811,Rare circulatory system disease +GARD:0021130,GARD:0022531,GARD:0020628,GARD:0010788,Rare genetic disease +GARD:0021130,GARD:0022518,GARD:0022518,GARD:0000774,Rare surgical thoracic disease +GARD:0021130,GARD:0022527,GARD:0020628,GARD:0010997,Rare circulatory system disease +GARD:0021130,GARD:0022531,GARD:0020628,GARD:0002249,Rare genetic disease +GARD:0021130,GARD:0022531,GARD:0020628,GARD:0002082,Rare genetic disease +GARD:0021130,GARD:0022531,GARD:0020628,GARD:0012811,Rare genetic disease +GARD:0021130,GARD:0022527,GARD:0020628,GARD:0001654,Rare circulatory system disease +GARD:0021130,GARD:0022518,GARD:0022518,GARD:0001654,Rare surgical thoracic disease +GARD:0021130,GARD:0022527,GARD:0020628,GARD:0022490,Rare circulatory system disease +GARD:0021130,GARD:0022518,GARD:0022518,GARD:0002249,Rare surgical thoracic disease +GARD:0021130,GARD:0022527,GARD:0020628,GARD:0021128,Rare circulatory system disease +GARD:0021130,GARD:0022518,GARD:0022518,GARD:0016535,Rare surgical thoracic disease +GARD:0021130,GARD:0022531,GARD:0020628,GARD:0017670,Rare genetic disease +GARD:0021130,GARD:0022527,GARD:0020628,GARD:0002082,Rare circulatory system disease +GARD:0021130,GARD:0022527,GARD:0020628,GARD:0002249,Rare circulatory system disease +GARD:0021130,GARD:0022531,GARD:0020628,GARD:0021128,Rare genetic disease +GARD:0021131,GARD:0022508,GARD:0021350,GARD:0009279,Rare inborn errors of metabolism +GARD:0021131,GARD:0022508,GARD:0021350,GARD:0018018,Rare inborn errors of metabolism +GARD:0021131,GARD:0022508,GARD:0021350,GARD:0010594,Rare inborn errors of metabolism +GARD:0021131,GARD:0022531,GARD:0021350,GARD:0009279,Rare genetic disease +GARD:0021131,GARD:0022508,GARD:0021350,GARD:0012983,Rare inborn errors of metabolism +GARD:0021131,GARD:0022508,GARD:0021350,GARD:0011000,Rare inborn errors of metabolism +GARD:0021131,GARD:0022508,GARD:0021350,GARD:0002734,Rare inborn errors of metabolism +GARD:0021131,GARD:0022531,GARD:0021350,GARD:0002734,Rare genetic disease +GARD:0021131,GARD:0022531,GARD:0021350,GARD:0012983,Rare genetic disease +GARD:0021131,GARD:0022531,GARD:0021350,GARD:0011000,Rare genetic disease +GARD:0021131,GARD:0022531,GARD:0021350,GARD:0018018,Rare genetic disease +GARD:0021131,GARD:0022531,GARD:0021350,GARD:0010594,Rare genetic disease +GARD:0021132,GARD:0022511,GARD:0019202,GARD:0006735,Rare bone disease +GARD:0021132,GARD:0022513,GARD:0019202,GARD:0021133,Rare developmental defect during embryogenesis +GARD:0021132,GARD:0022531,GARD:0020315,GARD:0021133,Rare genetic disease +GARD:0021132,GARD:0022531,GARD:0020315,GARD:0006735,Rare genetic disease +GARD:0021132,GARD:0022511,GARD:0019202,GARD:0021133,Rare bone disease +GARD:0021132,GARD:0022513,GARD:0019202,GARD:0006735,Rare developmental defect during embryogenesis +GARD:0021132,GARD:0022521,GARD:0018893,GARD:0021133,Rare endocrine disease +GARD:0021132,GARD:0022521,GARD:0018893,GARD:0006735,Rare endocrine disease +GARD:0021132,GARD:0022531,GARD:0019202,GARD:0006735,Rare genetic disease +GARD:0021132,GARD:0022531,GARD:0019202,GARD:0021133,Rare genetic disease +GARD:0021133,GARD:0022521,GARD:0021132,GARD:0017319,Rare endocrine disease +GARD:0021133,GARD:0022513,GARD:0021132,GARD:0017319,Rare developmental defect during embryogenesis +GARD:0021133,GARD:0022531,GARD:0021132,GARD:0017319,Rare genetic disease +GARD:0021133,GARD:0022511,GARD:0021132,GARD:0016805,Rare bone disease +GARD:0021133,GARD:0022511,GARD:0021132,GARD:0017319,Rare bone disease +GARD:0021133,GARD:0022521,GARD:0021132,GARD:0016805,Rare endocrine disease +GARD:0021133,GARD:0022513,GARD:0021132,GARD:0016805,Rare developmental defect during embryogenesis +GARD:0021133,GARD:0022531,GARD:0021132,GARD:0016805,Rare genetic disease +GARD:0021134,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0021134,GARD:0022531,GARD:0019437,,Rare genetic disease +GARD:0021134,GARD:0022524,GARD:0019437,,Rare neurologic disease +GARD:0021134,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0021135,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0021135,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0021136,GARD:0022535,GARD:0009330,,Rare neoplastic disease +GARD:0021136,GARD:0022536,GARD:0009330,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021136,GARD:0022514,GARD:0009330,,Rare gynecologic or obstetric disease +GARD:0021137,GARD:0022536,GARD:0005140,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021137,GARD:0022535,GARD:0005140,,Rare neoplastic disease +GARD:0021138,GARD:0022514,GARD:0020049,,Rare gynecologic or obstetric disease +GARD:0021139,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0021139,GARD:0022525,GARD:0021454,,Rare systemic or rheumatologic disease +GARD:0021140,GARD:0022524,GARD:0006895,GARD:0017774,Rare neurologic disease +GARD:0021140,GARD:0022524,GARD:0006895,GARD:0017773,Rare neurologic disease +GARD:0021140,GARD:0022531,GARD:0006895,GARD:0009632,Rare genetic disease +GARD:0021140,GARD:0022524,GARD:0006895,GARD:0016771,Rare neurologic disease +GARD:0021140,GARD:0022531,GARD:0006895,GARD:0016948,Rare genetic disease +GARD:0021140,GARD:0022531,GARD:0006895,GARD:0016771,Rare genetic disease +GARD:0021140,GARD:0022531,GARD:0006895,GARD:0017774,Rare genetic disease +GARD:0021140,GARD:0022524,GARD:0006895,GARD:0009632,Rare neurologic disease +GARD:0021140,GARD:0022531,GARD:0006895,GARD:0017773,Rare genetic disease +GARD:0021140,GARD:0022524,GARD:0006895,GARD:0016948,Rare neurologic disease +GARD:0021141,GARD:0022513,GARD:0020800,,Rare developmental defect during embryogenesis +GARD:0021141,GARD:0022531,GARD:0020800,,Rare genetic disease +GARD:0021142,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021142,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021142,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021142,GARD:0022531,GARD:0020882,,Rare genetic disease +GARD:0021142,GARD:0022513,GARD:0020882,,Rare developmental defect during embryogenesis +GARD:0021143,GARD:0022531,GARD:0019804,,Rare genetic disease +GARD:0021143,GARD:0022521,GARD:0019804,,Rare endocrine disease +GARD:0021144,GARD:0022528,GARD:0019405,,Rare otorhinolaryngologic disease +GARD:0021144,GARD:0022535,GARD:0019405,,Rare neoplastic disease +GARD:0021145,GARD:0022535,GARD:0019401,GARD:0021146,Rare neoplastic disease +GARD:0021145,GARD:0022535,GARD:0019401,GARD:0021857,Rare neoplastic disease +GARD:0021145,GARD:0022535,GARD:0019401,GARD:0019830,Rare neoplastic disease +GARD:0021145,GARD:0022535,GARD:0019401,GARD:0019076,Rare neoplastic disease +GARD:0021145,GARD:0022535,GARD:0019401,GARD:0009266,Rare neoplastic disease +GARD:0021146,GARD:0022535,GARD:0021145,GARD:0021148,Rare neoplastic disease +GARD:0021146,GARD:0022535,GARD:0021145,GARD:0021147,Rare neoplastic disease +GARD:0021146,GARD:0022535,GARD:0021145,GARD:0021149,Rare neoplastic disease +GARD:0021147,GARD:0022535,GARD:0021146,GARD:0009553,Rare neoplastic disease +GARD:0021147,GARD:0022535,GARD:0021146,GARD:0021563,Rare neoplastic disease +GARD:0021147,GARD:0022535,GARD:0021146,GARD:0009318,Rare neoplastic disease +GARD:0021147,GARD:0022535,GARD:0021146,GARD:0007041,Rare neoplastic disease +GARD:0021147,GARD:0022535,GARD:0021146,GARD:0012125,Rare neoplastic disease +GARD:0021147,GARD:0022535,GARD:0021146,GARD:0002714,Rare neoplastic disease +GARD:0021147,GARD:0022535,GARD:0021146,GARD:0021562,Rare neoplastic disease +GARD:0021147,GARD:0022535,GARD:0021146,GARD:0021150,Rare neoplastic disease +GARD:0021147,GARD:0022535,GARD:0021146,GARD:0009247,Rare neoplastic disease +GARD:0021147,GARD:0022535,GARD:0021146,GARD:0021250,Rare neoplastic disease +GARD:0021147,GARD:0022535,GARD:0021146,GARD:0005973,Rare neoplastic disease +GARD:0021147,GARD:0022535,GARD:0021146,GARD:0006943,Rare neoplastic disease +GARD:0021148,GARD:0022535,GARD:0021146,GARD:0021151,Rare neoplastic disease +GARD:0021148,GARD:0022535,GARD:0021146,GARD:0021362,Rare neoplastic disease +GARD:0021148,GARD:0022535,GARD:0021146,GARD:0007163,Rare neoplastic disease +GARD:0021149,GARD:0022535,GARD:0021146,GARD:0019081,Rare neoplastic disease +GARD:0021149,GARD:0022535,GARD:0021146,GARD:0021152,Rare neoplastic disease +GARD:0021149,GARD:0022535,GARD:0021146,GARD:0006880,Rare neoplastic disease +GARD:0021150,GARD:0022536,GARD:0003178,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021150,GARD:0022522,GARD:0003178,,Rare hematologic disease +GARD:0021150,GARD:0022535,GARD:0021147,,Rare neoplastic disease +GARD:0021150,GARD:0022535,GARD:0003178,,Rare neoplastic disease +GARD:0021151,GARD:0022535,GARD:0021148,,Rare neoplastic disease +GARD:0021152,GARD:0022535,GARD:0018907,,Rare neoplastic disease +GARD:0021152,GARD:0022535,GARD:0021149,,Rare neoplastic disease +GARD:0021153,GARD:0022531,GARD:0022296,GARD:0000333,Rare genetic disease +GARD:0021153,GARD:0022510,GARD:0022296,GARD:0022306,Rare skin disease +GARD:0021153,GARD:0022513,GARD:0022296,GARD:0000370,Rare developmental defect during embryogenesis +GARD:0021153,GARD:0022513,GARD:0022296,GARD:0013030,Rare developmental defect during embryogenesis +GARD:0021153,GARD:0022513,GARD:0022296,GARD:0022299,Rare developmental defect during embryogenesis +GARD:0021153,GARD:0022527,GARD:0022296,GARD:0003324,Rare circulatory system disease +GARD:0021153,GARD:0022510,GARD:0022296,GARD:0000333,Rare skin disease +GARD:0021153,GARD:0022527,GARD:0022296,GARD:0022306,Rare circulatory system disease +GARD:0021153,GARD:0022510,GARD:0022296,GARD:0022299,Rare skin disease +GARD:0021153,GARD:0022527,GARD:0022296,GARD:0013030,Rare circulatory system disease +GARD:0021153,GARD:0022510,GARD:0022296,GARD:0016898,Rare skin disease +GARD:0021153,GARD:0022527,GARD:0022296,GARD:0016898,Rare circulatory system disease +GARD:0021153,GARD:0022513,GARD:0022296,GARD:0016898,Rare developmental defect during embryogenesis +GARD:0021153,GARD:0022513,GARD:0022296,GARD:0000333,Rare developmental defect during embryogenesis +GARD:0021153,GARD:0022531,GARD:0022296,GARD:0016898,Rare genetic disease +GARD:0021153,GARD:0022510,GARD:0022296,GARD:0003324,Rare skin disease +GARD:0021153,GARD:0022527,GARD:0022296,GARD:0022299,Rare circulatory system disease +GARD:0021153,GARD:0022510,GARD:0022296,GARD:0013030,Rare skin disease +GARD:0021153,GARD:0022531,GARD:0022296,GARD:0013030,Rare genetic disease +GARD:0021153,GARD:0022510,GARD:0022296,GARD:0000370,Rare skin disease +GARD:0021153,GARD:0022513,GARD:0022296,GARD:0003324,Rare developmental defect during embryogenesis +GARD:0021153,GARD:0022531,GARD:0022296,GARD:0022306,Rare genetic disease +GARD:0021153,GARD:0022527,GARD:0022296,GARD:0000370,Rare circulatory system disease +GARD:0021153,GARD:0022531,GARD:0022296,GARD:0022299,Rare genetic disease +GARD:0021153,GARD:0022527,GARD:0022296,GARD:0000333,Rare circulatory system disease +GARD:0021153,GARD:0022531,GARD:0022296,GARD:0000370,Rare genetic disease +GARD:0021153,GARD:0022531,GARD:0022296,GARD:0003324,Rare genetic disease +GARD:0021153,GARD:0022513,GARD:0022296,GARD:0022306,Rare developmental defect during embryogenesis +GARD:0021154,GARD:0022508,GARD:0018937,GARD:0002871,Rare inborn errors of metabolism +GARD:0021154,GARD:0022531,GARD:0018937,GARD:0010039,Rare genetic disease +GARD:0021154,GARD:0022531,GARD:0018937,GARD:0002871,Rare genetic disease +GARD:0021154,GARD:0022508,GARD:0018937,GARD:0010039,Rare inborn errors of metabolism +GARD:0021155,GARD:0022508,GARD:0018937,GARD:0016709,Rare inborn errors of metabolism +GARD:0021155,GARD:0022508,GARD:0018937,GARD:0016708,Rare inborn errors of metabolism +GARD:0021155,GARD:0022531,GARD:0018937,GARD:0000314,Rare genetic disease +GARD:0021155,GARD:0022531,GARD:0018937,GARD:0016708,Rare genetic disease +GARD:0021155,GARD:0022508,GARD:0018937,GARD:0002828,Rare inborn errors of metabolism +GARD:0021155,GARD:0022531,GARD:0018937,GARD:0016709,Rare genetic disease +GARD:0021155,GARD:0022531,GARD:0018937,GARD:0002828,Rare genetic disease +GARD:0021155,GARD:0022508,GARD:0018937,GARD:0000314,Rare inborn errors of metabolism +GARD:0021156,GARD:0022508,GARD:0018937,GARD:0009848,Rare inborn errors of metabolism +GARD:0021156,GARD:0022531,GARD:0018937,GARD:0017994,Rare genetic disease +GARD:0021156,GARD:0022531,GARD:0018937,GARD:0009848,Rare genetic disease +GARD:0021156,GARD:0022508,GARD:0018937,GARD:0017994,Rare inborn errors of metabolism +GARD:0021156,GARD:0022531,GARD:0018937,GARD:0022247,Rare genetic disease +GARD:0021156,GARD:0022508,GARD:0018937,GARD:0022247,Rare inborn errors of metabolism +GARD:0021157,GARD:0022508,GARD:0018961,GARD:0002847,Rare inborn errors of metabolism +GARD:0021157,GARD:0022508,GARD:0018961,GARD:0000049,Rare inborn errors of metabolism +GARD:0021157,GARD:0022531,GARD:0018961,GARD:0006710,Rare genetic disease +GARD:0021157,GARD:0022531,GARD:0018961,GARD:0019134,Rare genetic disease +GARD:0021157,GARD:0022508,GARD:0018961,GARD:0006710,Rare inborn errors of metabolism +GARD:0021157,GARD:0022508,GARD:0018961,GARD:0019134,Rare inborn errors of metabolism +GARD:0021157,GARD:0022531,GARD:0018961,GARD:0002847,Rare genetic disease +GARD:0021157,GARD:0022531,GARD:0018961,GARD:0000049,Rare genetic disease +GARD:0021158,GARD:0022508,GARD:0018961,GARD:0006556,Rare inborn errors of metabolism +GARD:0021158,GARD:0022531,GARD:0018961,GARD:0006556,Rare genetic disease +GARD:0021158,GARD:0022531,GARD:0018961,GARD:0017987,Rare genetic disease +GARD:0021158,GARD:0022508,GARD:0018961,GARD:0017987,Rare inborn errors of metabolism +GARD:0021159,GARD:0022517,GARD:0022517,,Rare respiratory disease +GARD:0021159,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0021160,GARD:0022510,GARD:0022510,GARD:0018705,Rare skin disease +GARD:0021160,GARD:0022510,GARD:0022510,GARD:0021162,Rare skin disease +GARD:0021160,GARD:0022510,GARD:0022510,GARD:0008231,Rare skin disease +GARD:0021160,GARD:0022510,GARD:0022510,GARD:0006263,Rare skin disease +GARD:0021160,GARD:0022510,GARD:0022510,GARD:0004697,Rare skin disease +GARD:0021160,GARD:0022510,GARD:0022510,GARD:0020599,Rare skin disease +GARD:0021160,GARD:0022510,GARD:0022510,GARD:0006805,Rare skin disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0022463,Rare immune disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0008457,Rare genetic disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0017679,Rare genetic disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0010088,Rare immune disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0022466,Rare immune disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0017355,Rare genetic disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0009176,Rare genetic disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0006421,Rare genetic disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0000304,Rare genetic disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0010927,Rare immune disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0022273,Rare immune disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0022313,Rare genetic disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0017369,Rare genetic disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0010516,Rare immune disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0006036,Rare genetic disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0022313,Rare immune disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0022463,Rare genetic disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0022273,Rare genetic disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0009176,Rare immune disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0017369,Rare immune disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0002788,Rare genetic disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0000304,Rare immune disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0008457,Rare immune disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0017355,Rare immune disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0006421,Rare immune disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0006036,Rare immune disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0010088,Rare genetic disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0017679,Rare immune disease +GARD:0021161,GARD:0022523,GARD:0019810,GARD:0002788,Rare immune disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0010516,Rare genetic disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0022466,Rare genetic disease +GARD:0021161,GARD:0022531,GARD:0019810,GARD:0010927,Rare genetic disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0000304,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0010516,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0010088,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0000521,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0010927,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0017201,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0006108,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0021315,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0009176,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0021139,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0022463,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0022462,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0007606,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0007510,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0015001,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0012357,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0020694,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0008457,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0000848,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0013824,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0018014,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0017213,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0017355,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0017725,Rare skin disease +GARD:0021162,GARD:0022510,GARD:0021160,GARD:0017679,Rare skin disease +GARD:0021163,GARD:0022535,GARD:0019401,GARD:0021042,Rare neoplastic disease +GARD:0021163,GARD:0022535,GARD:0019401,GARD:0021370,Rare neoplastic disease +GARD:0021163,GARD:0022535,GARD:0019401,GARD:0019405,Rare neoplastic disease +GARD:0021164,GARD:0022510,GARD:0021171,,Rare skin disease +GARD:0021165,GARD:0022535,GARD:0011951,,Rare neoplastic disease +GARD:0021165,GARD:0022524,GARD:0011951,,Rare neurologic disease +GARD:0021166,GARD:0022531,GARD:0007383,,Rare genetic disease +GARD:0021166,GARD:0022508,GARD:0007383,,Rare inborn errors of metabolism +GARD:0021166,GARD:0022524,GARD:0007383,,Rare neurologic disease +GARD:0021167,GARD:0022520,GARD:0019518,,Rare ophthalmic disorder +GARD:0021167,GARD:0022531,GARD:0022177,,Rare genetic disease +GARD:0021168,GARD:0022531,GARD:0019519,,Rare genetic disease +GARD:0021168,GARD:0022520,GARD:0019519,,Rare ophthalmic disorder +GARD:0021169,GARD:0022533,GARD:0021258,,Rare disorder due to toxic effects +GARD:0021170,GARD:0022510,GARD:0021171,,Rare skin disease +GARD:0021171,GARD:0022510,GARD:0022510,GARD:0021170,Rare skin disease +GARD:0021171,GARD:0022510,GARD:0022510,GARD:0013629,Rare skin disease +GARD:0021171,GARD:0022510,GARD:0022510,GARD:0007743,Rare skin disease +GARD:0021171,GARD:0022510,GARD:0022510,GARD:0022049,Rare skin disease +GARD:0021171,GARD:0022510,GARD:0022510,GARD:0021164,Rare skin disease +GARD:0021172,GARD:0022531,GARD:0020318,GARD:0017095,Rare genetic disease +GARD:0021172,GARD:0022522,GARD:0019869,GARD:0001999,Rare hematologic disease +GARD:0021172,GARD:0022531,GARD:0020318,GARD:0001999,Rare genetic disease +GARD:0021172,GARD:0022531,GARD:0020318,GARD:0010088,Rare genetic disease +GARD:0021172,GARD:0022522,GARD:0019869,GARD:0010088,Rare hematologic disease +GARD:0021172,GARD:0022522,GARD:0019869,GARD:0017095,Rare hematologic disease +GARD:0021173,GARD:0022513,GARD:0020806,,Rare developmental defect during embryogenesis +GARD:0021173,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0021173,GARD:0022531,GARD:0010248,,Rare genetic disease +GARD:0021173,GARD:0022531,GARD:0020806,,Rare genetic disease +GARD:0021173,GARD:0022524,GARD:0010248,,Rare neurologic disease +GARD:0021173,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0021174,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0021174,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0021174,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0021174,GARD:0022514,GARD:0020219,,Rare gynecologic or obstetric disease +GARD:0021174,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0021174,GARD:0022531,GARD:0020219,,Rare genetic disease +GARD:0021174,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0021174,GARD:0022521,GARD:0020219,,Rare endocrine disease +GARD:0021174,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0021174,GARD:0022529,GARD:0020219,,Rare infertility +GARD:0021175,GARD:0022513,GARD:0020873,,Rare developmental defect during embryogenesis +GARD:0021175,GARD:0022531,GARD:0020873,,Rare genetic disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0006202,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0010830,Rare skin disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0017916,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0007186,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0021593,Rare skin disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0020901,Rare skin disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0010291,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0021590,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0020070,Rare skin disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0022016,Rare skin disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0013073,Rare skin disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0021592,Rare skin disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0013447,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0008501,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0021590,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0018813,Rare neoplastic disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0013073,Rare neoplastic disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0020901,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0003259,Rare skin disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0012801,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0010291,Rare neoplastic disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0013447,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0007186,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0019912,Rare neoplastic disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0004311,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0002469,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0002469,Rare neoplastic disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0006039,Rare neoplastic disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0022016,Rare neoplastic disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0010830,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0019912,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0012801,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0003856,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0003856,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0004311,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0020070,Rare neoplastic disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0021591,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0021591,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0010939,Rare neoplastic disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0021592,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0010939,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0021593,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0006039,Rare skin disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0019881,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0007475,Rare neoplastic disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0017916,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0018813,Rare skin disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0008501,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0003259,Rare neoplastic disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0007475,Rare skin disease +GARD:0021176,GARD:0022510,GARD:0019014,GARD:0006202,Rare skin disease +GARD:0021176,GARD:0022535,GARD:0019014,GARD:0019881,Rare neoplastic disease +GARD:0021177,GARD:0022513,GARD:0019870,GARD:0007111,Rare developmental defect during embryogenesis +GARD:0021177,GARD:0022513,GARD:0019870,GARD:0003834,Rare developmental defect during embryogenesis +GARD:0021177,GARD:0022531,GARD:0019870,GARD:0003834,Rare genetic disease +GARD:0021177,GARD:0022513,GARD:0019870,GARD:0013058,Rare developmental defect during embryogenesis +GARD:0021177,GARD:0022531,GARD:0019870,GARD:0004573,Rare genetic disease +GARD:0021177,GARD:0022531,GARD:0019870,GARD:0013058,Rare genetic disease +GARD:0021177,GARD:0022531,GARD:0019870,GARD:0007111,Rare genetic disease +GARD:0021177,GARD:0022513,GARD:0019870,GARD:0004573,Rare developmental defect during embryogenesis +GARD:0021178,GARD:0022536,GARD:0022062,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021178,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0021179,GARD:0022511,GARD:0022025,GARD:0005148,Rare bone disease +GARD:0021179,GARD:0022531,GARD:0022025,GARD:0005148,Rare genetic disease +GARD:0021179,GARD:0022511,GARD:0022025,GARD:0021190,Rare bone disease +GARD:0021179,GARD:0022531,GARD:0022025,GARD:0021190,Rare genetic disease +GARD:0021179,GARD:0022511,GARD:0022025,GARD:0021191,Rare bone disease +GARD:0021179,GARD:0022513,GARD:0022025,GARD:0021190,Rare developmental defect during embryogenesis +GARD:0021179,GARD:0022513,GARD:0022025,GARD:0021191,Rare developmental defect during embryogenesis +GARD:0021179,GARD:0022531,GARD:0022025,GARD:0021191,Rare genetic disease +GARD:0021179,GARD:0022513,GARD:0022025,GARD:0005148,Rare developmental defect during embryogenesis +GARD:0021180,GARD:0022531,GARD:0019210,GARD:0012123,Rare genetic disease +GARD:0021180,GARD:0022511,GARD:0019210,GARD:0012123,Rare bone disease +GARD:0021180,GARD:0022513,GARD:0019210,GARD:0021192,Rare developmental defect during embryogenesis +GARD:0021180,GARD:0022511,GARD:0019210,GARD:0021192,Rare bone disease +GARD:0021180,GARD:0022531,GARD:0019210,GARD:0001503,Rare genetic disease +GARD:0021180,GARD:0022531,GARD:0019210,GARD:0021193,Rare genetic disease +GARD:0021180,GARD:0022513,GARD:0019210,GARD:0021193,Rare developmental defect during embryogenesis +GARD:0021180,GARD:0022531,GARD:0019210,GARD:0021192,Rare genetic disease +GARD:0021180,GARD:0022511,GARD:0019210,GARD:0001503,Rare bone disease +GARD:0021180,GARD:0022513,GARD:0019210,GARD:0001503,Rare developmental defect during embryogenesis +GARD:0021180,GARD:0022513,GARD:0019210,GARD:0012123,Rare developmental defect during embryogenesis +GARD:0021180,GARD:0022511,GARD:0019210,GARD:0021193,Rare bone disease +GARD:0021181,GARD:0022531,GARD:0019872,GARD:0005488,Rare genetic disease +GARD:0021181,GARD:0022531,GARD:0019872,GARD:0000953,Rare genetic disease +GARD:0021181,GARD:0022513,GARD:0019872,GARD:0021182,Rare developmental defect during embryogenesis +GARD:0021181,GARD:0022531,GARD:0019872,GARD:0021182,Rare genetic disease +GARD:0021181,GARD:0022513,GARD:0019872,GARD:0000953,Rare developmental defect during embryogenesis +GARD:0021181,GARD:0022513,GARD:0019872,GARD:0005488,Rare developmental defect during embryogenesis +GARD:0021182,GARD:0022513,GARD:0021181,GARD:0009448,Rare developmental defect during embryogenesis +GARD:0021182,GARD:0022531,GARD:0021181,GARD:0009448,Rare genetic disease +GARD:0021182,GARD:0022531,GARD:0021181,GARD:0021202,Rare genetic disease +GARD:0021182,GARD:0022513,GARD:0021181,GARD:0021202,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022513,GARD:0021572,GARD:0002748,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022531,GARD:0021726,GARD:0021208,Rare genetic disease +GARD:0021183,GARD:0022531,GARD:0019872,GARD:0002748,Rare genetic disease +GARD:0021183,GARD:0022531,GARD:0021726,GARD:0010876,Rare genetic disease +GARD:0021183,GARD:0022511,GARD:0021572,GARD:0021208,Rare bone disease +GARD:0021183,GARD:0022513,GARD:0019872,GARD:0002749,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022513,GARD:0021572,GARD:0005074,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022511,GARD:0021572,GARD:0019244,Rare bone disease +GARD:0021183,GARD:0022513,GARD:0019872,GARD:0010876,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022513,GARD:0019872,GARD:0019244,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022531,GARD:0021726,GARD:0002748,Rare genetic disease +GARD:0021183,GARD:0022531,GARD:0021726,GARD:0019244,Rare genetic disease +GARD:0021183,GARD:0022511,GARD:0021572,GARD:0017117,Rare bone disease +GARD:0021183,GARD:0022513,GARD:0019872,GARD:0017117,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022513,GARD:0021572,GARD:0010876,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022531,GARD:0019872,GARD:0019244,Rare genetic disease +GARD:0021183,GARD:0022513,GARD:0021572,GARD:0019244,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022513,GARD:0019872,GARD:0005074,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022513,GARD:0019872,GARD:0002748,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022513,GARD:0021572,GARD:0002749,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022511,GARD:0021572,GARD:0010876,Rare bone disease +GARD:0021183,GARD:0022531,GARD:0019872,GARD:0017117,Rare genetic disease +GARD:0021183,GARD:0022511,GARD:0021572,GARD:0002748,Rare bone disease +GARD:0021183,GARD:0022531,GARD:0019872,GARD:0002749,Rare genetic disease +GARD:0021183,GARD:0022531,GARD:0021726,GARD:0002749,Rare genetic disease +GARD:0021183,GARD:0022511,GARD:0021572,GARD:0005074,Rare bone disease +GARD:0021183,GARD:0022531,GARD:0021726,GARD:0017117,Rare genetic disease +GARD:0021183,GARD:0022531,GARD:0019872,GARD:0010876,Rare genetic disease +GARD:0021183,GARD:0022513,GARD:0021572,GARD:0021208,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022513,GARD:0019872,GARD:0021208,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022531,GARD:0019872,GARD:0021208,Rare genetic disease +GARD:0021183,GARD:0022531,GARD:0021726,GARD:0005074,Rare genetic disease +GARD:0021183,GARD:0022513,GARD:0021572,GARD:0017117,Rare developmental defect during embryogenesis +GARD:0021183,GARD:0022511,GARD:0021572,GARD:0002749,Rare bone disease +GARD:0021183,GARD:0022531,GARD:0019872,GARD:0005074,Rare genetic disease +GARD:0021184,GARD:0022531,GARD:0019872,GARD:0021210,Rare genetic disease +GARD:0021184,GARD:0022513,GARD:0019872,GARD:0021211,Rare developmental defect during embryogenesis +GARD:0021184,GARD:0022531,GARD:0019872,GARD:0021211,Rare genetic disease +GARD:0021184,GARD:0022513,GARD:0019872,GARD:0009692,Rare developmental defect during embryogenesis +GARD:0021184,GARD:0022513,GARD:0019872,GARD:0021210,Rare developmental defect during embryogenesis +GARD:0021184,GARD:0022531,GARD:0019872,GARD:0009692,Rare genetic disease +GARD:0021184,GARD:0022531,GARD:0019872,GARD:0021209,Rare genetic disease +GARD:0021184,GARD:0022513,GARD:0019872,GARD:0021209,Rare developmental defect during embryogenesis +GARD:0021185,GARD:0022513,GARD:0019872,GARD:0008529,Rare developmental defect during embryogenesis +GARD:0021185,GARD:0022513,GARD:0019872,GARD:0006951,Rare developmental defect during embryogenesis +GARD:0021185,GARD:0022531,GARD:0019872,GARD:0006951,Rare genetic disease +GARD:0021185,GARD:0022513,GARD:0019872,GARD:0021213,Rare developmental defect during embryogenesis +GARD:0021185,GARD:0022513,GARD:0019872,GARD:0021212,Rare developmental defect during embryogenesis +GARD:0021185,GARD:0022531,GARD:0019872,GARD:0021213,Rare genetic disease +GARD:0021185,GARD:0022531,GARD:0019872,GARD:0008529,Rare genetic disease +GARD:0021185,GARD:0022531,GARD:0019872,GARD:0021212,Rare genetic disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0016686,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0000386,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0008309,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0006666,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0001068,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0000269,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0001555,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0009879,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0005398,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0004065,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0021487,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0005739,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0016611,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0017139,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0004963,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0001369,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0001555,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0002622,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0004633,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0017889,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0017889,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0017180,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0002229,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0001068,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0002229,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0016686,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0005210,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0000118,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0008309,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0004967,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0000384,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0000269,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0005739,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0003051,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0017889,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0001555,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0002410,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0002613,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0007387,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0002622,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0007387,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0000386,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0004065,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0004323,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0002750,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0000118,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0005116,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0005398,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0000068,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0003523,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0001369,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0002613,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0004637,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0006571,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0003051,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0002313,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0006666,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0010354,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0010109,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0000748,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0005398,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0009182,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0003707,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0016686,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0002229,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0002410,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0002622,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0000748,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0002313,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0016593,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0000118,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0004637,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0004967,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0022071,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0004967,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0021487,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0003707,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0006571,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0000384,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0009182,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0003707,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0010109,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0005116,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0000269,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0005739,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0016593,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0005210,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0006425,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0003523,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0010109,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0002285,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0001068,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0016593,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0017180,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0009212,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0002750,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0000068,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0007387,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0004633,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0004633,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0006425,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0002613,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0004323,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0000061,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0002285,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0000386,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0000224,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0009182,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0006571,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0000061,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0000224,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0000384,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0005116,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0004637,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0010354,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0006666,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0016611,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0004065,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0002313,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0022071,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0002410,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0017139,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0006425,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0021487,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0000748,Rare bone disease +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0005210,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0004963,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0008309,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0004963,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0022071,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0017139,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0002285,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0004323,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0009212,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0010354,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0016611,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0009212,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0001369,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0000061,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0000224,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0017180,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022511,GARD:0021572,GARD:0009879,Rare bone disease +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0003523,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0002750,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0009879,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0019871,GARD:0000068,Rare developmental defect during embryogenesis +GARD:0021186,GARD:0022513,GARD:0021572,GARD:0003051,Rare developmental defect during embryogenesis +GARD:0021187,GARD:0022531,GARD:0021726,GARD:0002331,Rare genetic disease +GARD:0021187,GARD:0022531,GARD:0021728,GARD:0016554,Rare genetic disease +GARD:0021187,GARD:0022513,GARD:0021572,GARD:0002285,Rare developmental defect during embryogenesis +GARD:0021187,GARD:0022531,GARD:0021728,GARD:0002331,Rare genetic disease +GARD:0021187,GARD:0022513,GARD:0021572,GARD:0002331,Rare developmental defect during embryogenesis +GARD:0021187,GARD:0022511,GARD:0021572,GARD:0001369,Rare bone disease +GARD:0021187,GARD:0022531,GARD:0021726,GARD:0002285,Rare genetic disease +GARD:0021187,GARD:0022513,GARD:0021572,GARD:0001369,Rare developmental defect during embryogenesis +GARD:0021187,GARD:0022531,GARD:0021726,GARD:0001369,Rare genetic disease +GARD:0021187,GARD:0022511,GARD:0021572,GARD:0002285,Rare bone disease +GARD:0021187,GARD:0022511,GARD:0021572,GARD:0005400,Rare bone disease +GARD:0021187,GARD:0022511,GARD:0021572,GARD:0016554,Rare bone disease +GARD:0021187,GARD:0022531,GARD:0021728,GARD:0002285,Rare genetic disease +GARD:0021187,GARD:0022531,GARD:0021728,GARD:0002286,Rare genetic disease +GARD:0021187,GARD:0022511,GARD:0021572,GARD:0018716,Rare bone disease +GARD:0021187,GARD:0022513,GARD:0019871,GARD:0005400,Rare developmental defect during embryogenesis +GARD:0021187,GARD:0022513,GARD:0019871,GARD:0002331,Rare developmental defect during embryogenesis +GARD:0021187,GARD:0022531,GARD:0021728,GARD:0018716,Rare genetic disease +GARD:0021187,GARD:0022513,GARD:0019871,GARD:0016554,Rare developmental defect during embryogenesis +GARD:0021187,GARD:0022531,GARD:0021726,GARD:0005400,Rare genetic disease +GARD:0021187,GARD:0022513,GARD:0021572,GARD:0002286,Rare developmental defect during embryogenesis +GARD:0021187,GARD:0022513,GARD:0021572,GARD:0016554,Rare developmental defect during embryogenesis +GARD:0021187,GARD:0022531,GARD:0021726,GARD:0016554,Rare genetic disease +GARD:0021187,GARD:0022513,GARD:0019871,GARD:0001369,Rare developmental defect during embryogenesis +GARD:0021187,GARD:0022513,GARD:0021572,GARD:0005400,Rare developmental defect during embryogenesis +GARD:0021187,GARD:0022531,GARD:0021726,GARD:0002286,Rare genetic disease +GARD:0021187,GARD:0022531,GARD:0021726,GARD:0018716,Rare genetic disease +GARD:0021187,GARD:0022531,GARD:0021728,GARD:0005400,Rare genetic disease +GARD:0021187,GARD:0022511,GARD:0021572,GARD:0002286,Rare bone disease +GARD:0021187,GARD:0022511,GARD:0021572,GARD:0002331,Rare bone disease +GARD:0021187,GARD:0022513,GARD:0021572,GARD:0018716,Rare developmental defect during embryogenesis +GARD:0021187,GARD:0022531,GARD:0021728,GARD:0001369,Rare genetic disease +GARD:0021187,GARD:0022513,GARD:0019871,GARD:0002285,Rare developmental defect during embryogenesis +GARD:0021187,GARD:0022513,GARD:0019871,GARD:0018716,Rare developmental defect during embryogenesis +GARD:0021187,GARD:0022513,GARD:0019871,GARD:0002286,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0006550,Rare bone disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0002410,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0005090,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0006848,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0003436,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0001601,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0000512,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0004069,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0004869,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0016686,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0021953,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0004470,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0004413,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0017551,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0004413,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0022284,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0017551,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0001601,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0017551,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0001669,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0017551,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0001617,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0004069,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0001617,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0003118,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0013349,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0000748,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0002216,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0005084,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0005090,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0005290,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0000241,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0010295,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0005090,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0016686,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0005077,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0000155,Rare bone disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0010295,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0002410,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0001617,Rare bone disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0005210,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0017889,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0004470,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0022284,Rare genetic disease 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defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0000028,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0002216,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0007305,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0006848,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0002285,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0007784,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0000062,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0002410,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0004869,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0004069,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0005084,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0007784,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0018784,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0018746,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0000155,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0002622,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0005683,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0000155,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0017889,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0005077,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0005090,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0016686,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0010692,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0022284,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0021953,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0005683,Rare bone disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0005090,Rare bone disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0004413,Rare bone disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0005290,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0004470,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0007784,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0005210,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0006550,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0016821,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0010692,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0005077,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0008485,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0010295,Rare bone disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0004470,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0016821,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0002622,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0002622,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0005210,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0002285,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0008485,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0000028,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0001669,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0002216,Rare bone disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0001617,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0007784,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0017889,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0005077,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0005210,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0006848,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0010295,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0003436,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0002622,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0004470,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0021584,Rare bone disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0002068,Rare bone disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0018784,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0018784,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0000512,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0006848,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0004413,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0000062,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0007305,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0005683,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0002068,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0016821,Rare bone disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0000512,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0005721,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0005290,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0018746,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0000241,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0002068,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0018784,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0017889,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0022284,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0000748,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0002216,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0006848,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0000155,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0000028,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0005683,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0005084,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0000062,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0007305,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0021953,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0016686,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0004869,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0005721,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0016821,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0004869,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0001617,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0007305,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0013349,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0000062,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0007784,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0000241,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0005721,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0001669,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0005721,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0018746,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0010692,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0000155,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0000028,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0005721,Rare bone disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0018746,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0000748,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0016821,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0006550,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0004413,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0013349,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0003118,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0004869,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0003436,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0006550,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0002285,Rare bone disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0003118,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0000241,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0003118,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0000512,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0006550,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0000512,Rare bone disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0021953,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0000241,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0010692,Rare bone disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0018746,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0002410,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0003436,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0017889,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0002410,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0005084,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0005210,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0022284,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0002285,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0021953,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0021584,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0021584,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0000748,Rare bone disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0002622,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0005084,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0000748,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0004069,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0021584,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0001669,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0001601,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0019871,GARD:0008485,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0002285,Rare genetic disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0003436,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0001669,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0003118,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0013349,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021728,GARD:0002068,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0000028,Rare bone disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0016686,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0017551,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0000062,Rare genetic disease +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0008485,Rare genetic disease +GARD:0021188,GARD:0022511,GARD:0021572,GARD:0004069,Rare bone disease +GARD:0021188,GARD:0022513,GARD:0021572,GARD:0013349,Rare developmental defect during embryogenesis +GARD:0021188,GARD:0022531,GARD:0021726,GARD:0021584,Rare genetic disease +GARD:0021189,GARD:0022513,GARD:0019499,GARD:0004436,Rare developmental defect during embryogenesis +GARD:0021189,GARD:0022507,GARD:0019998,GARD:0004436,Rare maxillo-facial surgical disease +GARD:0021189,GARD:0022507,GARD:0019998,GARD:0003242,Rare maxillo-facial surgical disease +GARD:0021189,GARD:0022531,GARD:0019870,GARD:0003242,Rare genetic disease +GARD:0021189,GARD:0022513,GARD:0019870,GARD:0003242,Rare developmental defect during embryogenesis +GARD:0021189,GARD:0022520,GARD:0019499,GARD:0003242,Rare ophthalmic disorder +GARD:0021189,GARD:0022531,GARD:0019870,GARD:0004436,Rare genetic disease +GARD:0021189,GARD:0022531,GARD:0019998,GARD:0004436,Rare genetic disease +GARD:0021189,GARD:0022528,GARD:0019998,GARD:0004436,Rare otorhinolaryngologic disease +GARD:0021189,GARD:0022531,GARD:0019998,GARD:0003242,Rare genetic disease +GARD:0021189,GARD:0022531,GARD:0019499,GARD:0003242,Rare genetic disease +GARD:0021189,GARD:0022520,GARD:0019499,GARD:0004436,Rare ophthalmic disorder +GARD:0021189,GARD:0022531,GARD:0019499,GARD:0004436,Rare genetic disease +GARD:0021189,GARD:0022513,GARD:0019870,GARD:0004436,Rare developmental defect during embryogenesis +GARD:0021189,GARD:0022528,GARD:0019998,GARD:0003242,Rare otorhinolaryngologic disease +GARD:0021189,GARD:0022513,GARD:0019998,GARD:0003242,Rare developmental defect during embryogenesis +GARD:0021189,GARD:0022513,GARD:0019998,GARD:0004436,Rare developmental defect during embryogenesis +GARD:0021189,GARD:0022513,GARD:0019499,GARD:0003242,Rare developmental defect during embryogenesis +GARD:0021190,GARD:0022511,GARD:0021179,,Rare bone disease +GARD:0021190,GARD:0022513,GARD:0021179,,Rare developmental defect during embryogenesis +GARD:0021190,GARD:0022531,GARD:0021179,,Rare genetic disease +GARD:0021191,GARD:0022513,GARD:0021179,,Rare developmental defect during embryogenesis +GARD:0021191,GARD:0022531,GARD:0021179,,Rare genetic disease +GARD:0021191,GARD:0022511,GARD:0021179,,Rare bone disease +GARD:0021192,GARD:0022513,GARD:0021180,,Rare developmental defect during embryogenesis +GARD:0021192,GARD:0022511,GARD:0021180,,Rare bone disease +GARD:0021192,GARD:0022531,GARD:0021180,,Rare genetic disease +GARD:0021193,GARD:0022513,GARD:0021180,,Rare developmental defect during embryogenesis +GARD:0021193,GARD:0022531,GARD:0021180,,Rare genetic disease +GARD:0021193,GARD:0022511,GARD:0021180,,Rare bone disease +GARD:0021194,GARD:0022513,GARD:0022033,,Rare developmental defect during embryogenesis +GARD:0021194,GARD:0022531,GARD:0022033,,Rare genetic disease +GARD:0021194,GARD:0022511,GARD:0022033,,Rare bone disease +GARD:0021195,GARD:0022531,GARD:0022033,,Rare genetic disease +GARD:0021195,GARD:0022511,GARD:0022033,,Rare bone disease +GARD:0021195,GARD:0022513,GARD:0022033,,Rare developmental defect during embryogenesis +GARD:0021196,GARD:0022531,GARD:0022025,,Rare genetic disease +GARD:0021196,GARD:0022513,GARD:0022025,,Rare developmental defect during embryogenesis +GARD:0021196,GARD:0022511,GARD:0022025,,Rare bone disease +GARD:0021197,GARD:0022531,GARD:0022025,,Rare genetic disease +GARD:0021197,GARD:0022513,GARD:0022025,,Rare developmental defect during embryogenesis +GARD:0021197,GARD:0022511,GARD:0022025,,Rare bone disease +GARD:0021198,GARD:0022531,GARD:0022024,,Rare genetic disease +GARD:0021198,GARD:0022511,GARD:0022024,,Rare bone disease +GARD:0021198,GARD:0022513,GARD:0022024,,Rare developmental defect during embryogenesis +GARD:0021199,GARD:0022513,GARD:0019211,,Rare developmental defect during embryogenesis +GARD:0021199,GARD:0022531,GARD:0019211,,Rare genetic disease +GARD:0021199,GARD:0022511,GARD:0019211,,Rare bone disease +GARD:0021200,GARD:0022531,GARD:0022028,,Rare genetic disease +GARD:0021200,GARD:0022513,GARD:0022028,,Rare developmental defect during embryogenesis +GARD:0021200,GARD:0022511,GARD:0022028,,Rare bone disease +GARD:0021201,GARD:0022531,GARD:0019100,,Rare genetic disease +GARD:0021201,GARD:0022513,GARD:0019100,,Rare developmental defect during embryogenesis +GARD:0021201,GARD:0022511,GARD:0019100,,Rare bone disease +GARD:0021202,GARD:0022513,GARD:0021182,,Rare developmental defect during embryogenesis +GARD:0021202,GARD:0022531,GARD:0021182,,Rare genetic disease +GARD:0021203,GARD:0022531,GARD:0020015,,Rare genetic disease +GARD:0021203,GARD:0022511,GARD:0020015,,Rare bone disease +GARD:0021203,GARD:0022513,GARD:0020015,,Rare developmental defect during embryogenesis +GARD:0021204,GARD:0022531,GARD:0020015,,Rare genetic disease +GARD:0021204,GARD:0022513,GARD:0020015,,Rare developmental defect during embryogenesis +GARD:0021204,GARD:0022511,GARD:0020015,,Rare bone disease +GARD:0021205,GARD:0022531,GARD:0020015,,Rare genetic disease +GARD:0021205,GARD:0022511,GARD:0020015,,Rare bone disease +GARD:0021205,GARD:0022513,GARD:0020015,,Rare developmental defect during embryogenesis +GARD:0021206,GARD:0022513,GARD:0020015,,Rare developmental defect during embryogenesis +GARD:0021206,GARD:0022511,GARD:0020015,,Rare bone disease +GARD:0021206,GARD:0022531,GARD:0020015,,Rare genetic disease +GARD:0021207,GARD:0022511,GARD:0020015,,Rare bone disease +GARD:0021207,GARD:0022531,GARD:0020015,,Rare genetic disease +GARD:0021207,GARD:0022513,GARD:0020015,,Rare developmental defect during embryogenesis +GARD:0021208,GARD:0022511,GARD:0021183,,Rare bone disease +GARD:0021208,GARD:0022513,GARD:0021183,,Rare developmental defect during embryogenesis +GARD:0021208,GARD:0022531,GARD:0021183,,Rare genetic disease +GARD:0021209,GARD:0022531,GARD:0021184,,Rare genetic disease +GARD:0021209,GARD:0022513,GARD:0021184,,Rare developmental defect during embryogenesis +GARD:0021210,GARD:0022513,GARD:0021184,GARD:0021224,Rare developmental defect during embryogenesis +GARD:0021210,GARD:0022513,GARD:0021184,GARD:0021223,Rare developmental defect during embryogenesis +GARD:0021210,GARD:0022531,GARD:0021184,GARD:0021224,Rare genetic disease +GARD:0021210,GARD:0022531,GARD:0021184,GARD:0021223,Rare genetic disease +GARD:0021211,GARD:0022531,GARD:0021184,GARD:0021226,Rare genetic disease +GARD:0021211,GARD:0022513,GARD:0021184,GARD:0021226,Rare developmental defect during embryogenesis +GARD:0021211,GARD:0022531,GARD:0021184,GARD:0021225,Rare genetic disease +GARD:0021211,GARD:0022513,GARD:0021184,GARD:0021225,Rare developmental defect during embryogenesis +GARD:0021212,GARD:0022531,GARD:0021185,,Rare genetic disease +GARD:0021212,GARD:0022513,GARD:0021185,,Rare developmental defect during embryogenesis +GARD:0021213,GARD:0022513,GARD:0021185,,Rare developmental defect during embryogenesis +GARD:0021213,GARD:0022531,GARD:0021185,,Rare genetic disease +GARD:0021214,GARD:0022513,GARD:0005081,,Rare developmental defect during embryogenesis +GARD:0021214,GARD:0022531,GARD:0005081,,Rare genetic disease +GARD:0021214,GARD:0022511,GARD:0005081,,Rare bone disease +GARD:0021215,GARD:0022513,GARD:0005081,,Rare developmental defect during embryogenesis +GARD:0021215,GARD:0022531,GARD:0005081,,Rare genetic disease +GARD:0021215,GARD:0022511,GARD:0005081,,Rare bone disease +GARD:0021216,GARD:0022511,GARD:0005081,,Rare bone disease +GARD:0021216,GARD:0022513,GARD:0005081,,Rare developmental defect during embryogenesis +GARD:0021216,GARD:0022531,GARD:0005081,,Rare genetic disease +GARD:0021217,GARD:0022513,GARD:0005488,,Rare developmental defect during embryogenesis +GARD:0021217,GARD:0022531,GARD:0005488,,Rare genetic disease +GARD:0021218,GARD:0022513,GARD:0005488,,Rare developmental defect during embryogenesis +GARD:0021218,GARD:0022531,GARD:0005488,,Rare genetic disease +GARD:0021219,GARD:0022511,GARD:0019244,,Rare bone disease +GARD:0021219,GARD:0022513,GARD:0019244,,Rare developmental defect during embryogenesis +GARD:0021219,GARD:0022531,GARD:0019244,,Rare genetic disease +GARD:0021220,GARD:0022531,GARD:0019244,,Rare genetic disease +GARD:0021220,GARD:0022513,GARD:0019244,,Rare developmental defect during embryogenesis +GARD:0021220,GARD:0022511,GARD:0019244,,Rare bone disease +GARD:0021221,GARD:0022511,GARD:0010876,,Rare bone disease +GARD:0021221,GARD:0022531,GARD:0010876,,Rare genetic disease +GARD:0021221,GARD:0022513,GARD:0010876,,Rare developmental defect during embryogenesis +GARD:0021222,GARD:0022513,GARD:0010876,,Rare developmental defect during embryogenesis +GARD:0021222,GARD:0022531,GARD:0010876,,Rare genetic disease +GARD:0021222,GARD:0022511,GARD:0010876,,Rare bone disease +GARD:0021223,GARD:0022513,GARD:0021210,,Rare developmental defect during embryogenesis +GARD:0021223,GARD:0022531,GARD:0021210,,Rare genetic disease +GARD:0021224,GARD:0022513,GARD:0021210,,Rare developmental defect during embryogenesis +GARD:0021224,GARD:0022531,GARD:0021210,,Rare genetic disease +GARD:0021225,GARD:0022513,GARD:0021211,,Rare developmental defect during embryogenesis +GARD:0021225,GARD:0022531,GARD:0021211,,Rare genetic disease +GARD:0021226,GARD:0022531,GARD:0021211,,Rare genetic disease +GARD:0021226,GARD:0022513,GARD:0021211,,Rare developmental defect during embryogenesis +GARD:0021227,GARD:0022513,GARD:0022209,,Rare developmental defect during embryogenesis +GARD:0021227,GARD:0022513,GARD:0008529,,Rare developmental defect during embryogenesis +GARD:0021227,GARD:0022531,GARD:0008529,,Rare genetic disease +GARD:0021227,GARD:0022531,GARD:0022209,,Rare genetic disease +GARD:0021228,GARD:0022513,GARD:0008529,,Rare developmental defect during embryogenesis +GARD:0021228,GARD:0022531,GARD:0008529,,Rare genetic disease +GARD:0021229,GARD:0022531,GARD:0006951,,Rare genetic disease +GARD:0021229,GARD:0022531,GARD:0022209,,Rare genetic disease +GARD:0021229,GARD:0022513,GARD:0022209,,Rare developmental defect during embryogenesis +GARD:0021229,GARD:0022513,GARD:0006951,,Rare developmental defect during embryogenesis +GARD:0021230,GARD:0022513,GARD:0006951,,Rare developmental defect during embryogenesis +GARD:0021230,GARD:0022531,GARD:0006951,,Rare genetic disease +GARD:0021231,GARD:0022508,GARD:0021350,GARD:0020899,Rare inborn errors of metabolism +GARD:0021231,GARD:0022531,GARD:0021350,GARD:0009210,Rare genetic disease +GARD:0021231,GARD:0022531,GARD:0021350,GARD:0017097,Rare genetic disease +GARD:0021231,GARD:0022531,GARD:0021350,GARD:0017123,Rare genetic disease +GARD:0021231,GARD:0022531,GARD:0021350,GARD:0013571,Rare genetic disease +GARD:0021231,GARD:0022531,GARD:0021350,GARD:0010237,Rare genetic disease +GARD:0021231,GARD:0022508,GARD:0021350,GARD:0017123,Rare inborn errors of metabolism +GARD:0021231,GARD:0022508,GARD:0021350,GARD:0013571,Rare inborn errors of metabolism +GARD:0021231,GARD:0022531,GARD:0021350,GARD:0020899,Rare genetic disease +GARD:0021231,GARD:0022508,GARD:0021350,GARD:0009210,Rare inborn errors of metabolism +GARD:0021231,GARD:0022531,GARD:0021350,GARD:0008606,Rare genetic disease +GARD:0021231,GARD:0022508,GARD:0021350,GARD:0017097,Rare inborn errors of metabolism +GARD:0021231,GARD:0022508,GARD:0021350,GARD:0010237,Rare inborn errors of metabolism +GARD:0021231,GARD:0022508,GARD:0021350,GARD:0008606,Rare inborn errors of metabolism +GARD:0021232,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021232,GARD:0022531,GARD:0020868,,Rare genetic disease +GARD:0021232,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021232,GARD:0022513,GARD:0020868,,Rare developmental defect during embryogenesis +GARD:0021232,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021232,GARD:0022513,GARD:0019213,,Rare developmental defect during embryogenesis +GARD:0021232,GARD:0022531,GARD:0019213,,Rare genetic disease +GARD:0021233,GARD:0022511,GARD:0022511,,Rare bone disease +GARD:0021234,GARD:0022535,GARD:0021235,,Rare neoplastic disease +GARD:0021234,GARD:0022510,GARD:0021235,,Rare skin disease +GARD:0021235,GARD:0022535,GARD:0019014,GARD:0021234,Rare neoplastic disease +GARD:0021235,GARD:0022510,GARD:0019014,GARD:0011007,Rare skin disease +GARD:0021235,GARD:0022535,GARD:0019014,GARD:0011007,Rare neoplastic disease +GARD:0021235,GARD:0022510,GARD:0019014,GARD:0021234,Rare skin disease +GARD:0021236,GARD:0022516,GARD:0019787,,Rare gastroenterologic disease +GARD:0021236,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0021237,GARD:0022535,GARD:0019403,,Rare neoplastic disease +GARD:0021237,GARD:0022516,GARD:0022516,,Rare gastroenterologic disease +GARD:0021238,GARD:0022536,GARD:0013337,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021238,GARD:0022517,GARD:0013337,,Rare respiratory disease +GARD:0021239,GARD:0022509,GARD:0020044,GARD:0013158,Rare infectious disease +GARD:0021239,GARD:0022509,GARD:0020044,GARD:0018820,Rare infectious disease +GARD:0021239,GARD:0022509,GARD:0020044,GARD:0018821,Rare infectious disease +GARD:0021239,GARD:0022509,GARD:0020044,GARD:0019710,Rare infectious disease +GARD:0021239,GARD:0022509,GARD:0020044,GARD:0018819,Rare infectious disease +GARD:0021240,GARD:0022531,GARD:0019444,GARD:0003373,Rare genetic disease +GARD:0021240,GARD:0022531,GARD:0019444,GARD:0018615,Rare genetic disease +GARD:0021240,GARD:0022531,GARD:0019444,GARD:0009846,Rare genetic disease +GARD:0021240,GARD:0022531,GARD:0019444,GARD:0010985,Rare genetic disease +GARD:0021240,GARD:0022531,GARD:0019444,GARD:0016866,Rare genetic disease +GARD:0021240,GARD:0022531,GARD:0019444,GARD:0012585,Rare genetic disease +GARD:0021240,GARD:0022531,GARD:0019444,GARD:0017129,Rare genetic disease +GARD:0021240,GARD:0022531,GARD:0019444,GARD:0016865,Rare genetic disease +GARD:0021241,GARD:0022531,GARD:0019444,GARD:0008548,Rare genetic disease +GARD:0021242,GARD:0022531,GARD:0019444,GARD:0003374,Rare genetic disease +GARD:0021242,GARD:0022531,GARD:0019444,GARD:0021080,Rare genetic disease +GARD:0021242,GARD:0022531,GARD:0019444,GARD:0012598,Rare genetic disease +GARD:0021242,GARD:0022531,GARD:0019444,GARD:0003126,Rare genetic disease +GARD:0021243,GARD:0022531,GARD:0019444,GARD:0021555,Rare genetic disease +GARD:0021243,GARD:0022531,GARD:0019444,GARD:0011910,Rare genetic disease +GARD:0021243,GARD:0022531,GARD:0019444,GARD:0001516,Rare genetic disease +GARD:0021243,GARD:0022531,GARD:0019444,GARD:0007467,Rare genetic disease +GARD:0021244,GARD:0022536,GARD:0020132,GARD:0002356,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021244,GARD:0022522,GARD:0020132,GARD:0007872,Rare hematologic disease +GARD:0021244,GARD:0022536,GARD:0020132,GARD:0021851,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021244,GARD:0022522,GARD:0020132,GARD:0013237,Rare hematologic disease +GARD:0021244,GARD:0022536,GARD:0020132,GARD:0007872,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021244,GARD:0022535,GARD:0020132,GARD:0006104,Rare neoplastic disease +GARD:0021244,GARD:0022522,GARD:0020132,GARD:0006104,Rare hematologic disease +GARD:0021244,GARD:0022535,GARD:0020132,GARD:0021249,Rare neoplastic disease +GARD:0021244,GARD:0022535,GARD:0020132,GARD:0013237,Rare neoplastic disease +GARD:0021244,GARD:0022522,GARD:0020132,GARD:0006560,Rare hematologic disease +GARD:0021244,GARD:0022536,GARD:0020132,GARD:0020164,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021244,GARD:0022536,GARD:0020132,GARD:0021249,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021244,GARD:0022535,GARD:0020132,GARD:0007872,Rare neoplastic disease +GARD:0021244,GARD:0022536,GARD:0020132,GARD:0013237,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021244,GARD:0022522,GARD:0020132,GARD:0021851,Rare hematologic disease +GARD:0021244,GARD:0022522,GARD:0020132,GARD:0020164,Rare hematologic disease +GARD:0021244,GARD:0022522,GARD:0020132,GARD:0021249,Rare hematologic disease +GARD:0021244,GARD:0022535,GARD:0020132,GARD:0020164,Rare neoplastic disease +GARD:0021244,GARD:0022535,GARD:0020132,GARD:0021851,Rare neoplastic disease +GARD:0021244,GARD:0022535,GARD:0020132,GARD:0006560,Rare neoplastic disease +GARD:0021244,GARD:0022535,GARD:0020132,GARD:0002356,Rare neoplastic disease +GARD:0021244,GARD:0022522,GARD:0020132,GARD:0002356,Rare hematologic disease +GARD:0021244,GARD:0022536,GARD:0020132,GARD:0006560,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021244,GARD:0022536,GARD:0020132,GARD:0006104,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021245,GARD:0022536,GARD:0020132,GARD:0012125,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021245,GARD:0022535,GARD:0020132,GARD:0005973,Rare neoplastic disease +GARD:0021245,GARD:0022522,GARD:0020132,GARD:0020163,Rare hematologic disease +GARD:0021245,GARD:0022536,GARD:0020132,GARD:0003178,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021245,GARD:0022522,GARD:0020132,GARD:0012125,Rare hematologic disease +GARD:0021245,GARD:0022522,GARD:0020132,GARD:0006969,Rare hematologic disease +GARD:0021245,GARD:0022536,GARD:0020132,GARD:0005973,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021245,GARD:0022536,GARD:0020132,GARD:0006969,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021245,GARD:0022522,GARD:0020132,GARD:0009247,Rare hematologic disease +GARD:0021245,GARD:0022536,GARD:0020132,GARD:0009247,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021245,GARD:0022522,GARD:0020132,GARD:0021980,Rare hematologic disease +GARD:0021245,GARD:0022535,GARD:0020132,GARD:0009247,Rare neoplastic disease +GARD:0021245,GARD:0022522,GARD:0020132,GARD:0003178,Rare hematologic disease +GARD:0021245,GARD:0022535,GARD:0020132,GARD:0021980,Rare neoplastic disease +GARD:0021245,GARD:0022536,GARD:0020132,GARD:0008223,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021245,GARD:0022535,GARD:0020132,GARD:0003178,Rare neoplastic disease +GARD:0021245,GARD:0022535,GARD:0020132,GARD:0006969,Rare neoplastic disease +GARD:0021245,GARD:0022535,GARD:0020132,GARD:0020163,Rare neoplastic disease +GARD:0021245,GARD:0022536,GARD:0020132,GARD:0020163,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021245,GARD:0022522,GARD:0020132,GARD:0008223,Rare hematologic disease +GARD:0021245,GARD:0022535,GARD:0020132,GARD:0008223,Rare neoplastic disease +GARD:0021245,GARD:0022535,GARD:0020132,GARD:0012125,Rare neoplastic disease +GARD:0021245,GARD:0022522,GARD:0020132,GARD:0005973,Rare hematologic disease +GARD:0021245,GARD:0022536,GARD:0020132,GARD:0021980,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021246,GARD:0022535,GARD:0003178,,Rare neoplastic disease +GARD:0021246,GARD:0022536,GARD:0003178,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021246,GARD:0022522,GARD:0003178,,Rare hematologic disease +GARD:0021247,GARD:0022510,GARD:0018697,,Rare skin disease +GARD:0021247,GARD:0022522,GARD:0018697,,Rare hematologic disease +GARD:0021247,GARD:0022536,GARD:0018697,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021247,GARD:0022535,GARD:0018697,,Rare neoplastic disease +GARD:0021248,GARD:0022522,GARD:0013237,,Rare hematologic disease +GARD:0021248,GARD:0022535,GARD:0013237,,Rare neoplastic disease +GARD:0021248,GARD:0022536,GARD:0013237,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021249,GARD:0022536,GARD:0021244,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021249,GARD:0022535,GARD:0021244,,Rare neoplastic disease +GARD:0021249,GARD:0022522,GARD:0021244,,Rare hematologic disease +GARD:0021250,GARD:0022535,GARD:0021147,,Rare neoplastic disease +GARD:0021250,GARD:0022522,GARD:0003178,,Rare hematologic disease +GARD:0021250,GARD:0022536,GARD:0003178,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021250,GARD:0022535,GARD:0003178,,Rare neoplastic disease +GARD:0021251,GARD:0022522,GARD:0003112,,Rare hematologic disease +GARD:0021251,GARD:0022535,GARD:0003112,,Rare neoplastic disease +GARD:0021251,GARD:0022536,GARD:0003112,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021252,GARD:0022536,GARD:0003112,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021252,GARD:0022522,GARD:0003112,,Rare hematologic disease +GARD:0021252,GARD:0022535,GARD:0003112,,Rare neoplastic disease +GARD:0021253,GARD:0022535,GARD:0020254,GARD:0019680,Rare neoplastic disease +GARD:0021253,GARD:0022535,GARD:0020254,GARD:0009371,Rare neoplastic disease +GARD:0021254,GARD:0022508,GARD:0021357,GARD:0003451,Rare inborn errors of metabolism +GARD:0021254,GARD:0022536,GARD:0022061,GARD:0002906,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021254,GARD:0022536,GARD:0022061,GARD:0003451,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021254,GARD:0022512,GARD:0019230,GARD:0002906,Rare renal disease +GARD:0021254,GARD:0022512,GARD:0019230,GARD:0003451,Rare renal disease +GARD:0021254,GARD:0022531,GARD:0021357,GARD:0003451,Rare genetic disease +GARD:0021254,GARD:0022531,GARD:0020306,GARD:0003451,Rare genetic disease +GARD:0021254,GARD:0022531,GARD:0020306,GARD:0002906,Rare genetic disease +GARD:0021254,GARD:0022508,GARD:0021357,GARD:0002906,Rare inborn errors of metabolism +GARD:0021254,GARD:0022531,GARD:0021357,GARD:0002906,Rare genetic disease +GARD:0021255,GARD:0022507,GARD:0022507,,Rare maxillo-facial surgical disease +GARD:0021255,GARD:0022534,GARD:0022534,,Rare abdominal surgical disease +GARD:0021256,GARD:0022506,GARD:0019792,GARD:0018850,Rare hepatic disease +GARD:0021256,GARD:0022536,GARD:0022060,GARD:0018850,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021256,GARD:0022535,GARD:0019792,GARD:0018850,Rare neoplastic disease +GARD:0021256,GARD:0022536,GARD:0022060,GARD:0019761,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021256,GARD:0022506,GARD:0019792,GARD:0019761,Rare hepatic disease +GARD:0021256,GARD:0022535,GARD:0019792,GARD:0019761,Rare neoplastic disease +GARD:0021257,GARD:0022506,GARD:0019792,GARD:0018847,Rare hepatic disease +GARD:0021257,GARD:0022536,GARD:0022060,GARD:0002657,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021257,GARD:0022536,GARD:0022060,GARD:0019743,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021257,GARD:0022506,GARD:0019792,GARD:0019743,Rare hepatic disease +GARD:0021257,GARD:0022535,GARD:0019792,GARD:0020145,Rare neoplastic disease +GARD:0021257,GARD:0022535,GARD:0019792,GARD:0021785,Rare neoplastic disease +GARD:0021257,GARD:0022536,GARD:0022060,GARD:0020145,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021257,GARD:0022535,GARD:0019792,GARD:0002657,Rare neoplastic disease +GARD:0021257,GARD:0022536,GARD:0022060,GARD:0018847,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021257,GARD:0022536,GARD:0022060,GARD:0022278,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021257,GARD:0022506,GARD:0019792,GARD:0022278,Rare hepatic disease +GARD:0021257,GARD:0022535,GARD:0019792,GARD:0019743,Rare neoplastic disease +GARD:0021257,GARD:0022536,GARD:0022060,GARD:0002651,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021257,GARD:0022535,GARD:0019792,GARD:0018847,Rare neoplastic disease +GARD:0021257,GARD:0022506,GARD:0019792,GARD:0020145,Rare hepatic disease +GARD:0021257,GARD:0022535,GARD:0019792,GARD:0022278,Rare neoplastic disease +GARD:0021257,GARD:0022506,GARD:0019792,GARD:0002657,Rare hepatic disease +GARD:0021257,GARD:0022506,GARD:0019792,GARD:0021785,Rare hepatic disease +GARD:0021257,GARD:0022506,GARD:0019792,GARD:0002651,Rare hepatic disease +GARD:0021257,GARD:0022535,GARD:0019792,GARD:0002651,Rare neoplastic disease +GARD:0021257,GARD:0022536,GARD:0022060,GARD:0021785,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021258,GARD:0022533,GARD:0022533,GARD:0018830,Rare disorder due to toxic effects +GARD:0021258,GARD:0022533,GARD:0022533,GARD:0020509,Rare disorder due to toxic effects +GARD:0021258,GARD:0022533,GARD:0022533,GARD:0021938,Rare disorder due to toxic effects +GARD:0021258,GARD:0022533,GARD:0022533,GARD:0021169,Rare disorder due to toxic effects +GARD:0021258,GARD:0022533,GARD:0022533,GARD:0018803,Rare disorder due to toxic effects +GARD:0021258,GARD:0022533,GARD:0022533,GARD:0021931,Rare disorder due to toxic effects +GARD:0021258,GARD:0022533,GARD:0022533,GARD:0022269,Rare disorder due to toxic effects +GARD:0021258,GARD:0022533,GARD:0022533,GARD:0018829,Rare disorder due to toxic effects +GARD:0021258,GARD:0022533,GARD:0022533,GARD:0018807,Rare disorder due to toxic effects +GARD:0021258,GARD:0022533,GARD:0022533,GARD:0022199,Rare disorder due to toxic effects +GARD:0021259,GARD:0022536,GARD:0022536,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021260,GARD:0022520,GARD:0010941,GARD:0006791,Rare ophthalmic disorder +GARD:0021260,GARD:0022520,GARD:0010941,GARD:0018939,Rare ophthalmic disorder +GARD:0021260,GARD:0022520,GARD:0010941,GARD:0020443,Rare ophthalmic disorder +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0019372,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0017183,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0018028,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0017621,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0003203,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0016610,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0012568,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0010484,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0019604,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0018930,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0009175,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0010453,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0017684,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0022077,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0010533,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0019370,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0017567,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0010539,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0006332,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0021262,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0006406,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0010706,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0013168,Rare neurologic disease +GARD:0021261,GARD:0022524,GARD:0018891,GARD:0017146,Rare neurologic disease +GARD:0021262,GARD:0022531,GARD:0021284,,Rare genetic disease +GARD:0021262,GARD:0022524,GARD:0021261,,Rare neurologic disease +GARD:0021263,GARD:0022524,GARD:0018891,GARD:0021266,Rare neurologic disease +GARD:0021263,GARD:0022524,GARD:0018891,GARD:0021265,Rare neurologic disease +GARD:0021263,GARD:0022524,GARD:0018891,GARD:0021264,Rare neurologic disease +GARD:0021264,GARD:0022524,GARD:0021263,,Rare neurologic disease +GARD:0021264,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0021265,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0021265,GARD:0022524,GARD:0021263,,Rare neurologic disease +GARD:0021266,GARD:0022524,GARD:0021263,,Rare neurologic disease +GARD:0021266,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0021894,Rare neurologic disease +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0007617,Rare neurologic disease +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0003971,Rare neurologic disease +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0010902,Rare neurologic disease +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0016986,Rare neurologic disease +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0017307,Rare neurologic disease +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0017788,Rare neurologic disease +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0012978,Rare neurologic disease +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0011899,Rare neurologic disease +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0005040,Rare neurologic disease +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0021268,Rare neurologic disease +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0006956,Rare neurologic disease +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0013658,Rare neurologic disease +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0010469,Rare neurologic disease +GARD:0021267,GARD:0022524,GARD:0019817,GARD:0007079,Rare neurologic disease +GARD:0021268,GARD:0022524,GARD:0021267,GARD:0017273,Rare neurologic disease +GARD:0021268,GARD:0022524,GARD:0021267,GARD:0007471,Rare neurologic disease +GARD:0021268,GARD:0022524,GARD:0021267,GARD:0010793,Rare neurologic disease +GARD:0021268,GARD:0022531,GARD:0021285,GARD:0007471,Rare genetic disease +GARD:0021268,GARD:0022531,GARD:0021285,GARD:0013168,Rare genetic disease +GARD:0021268,GARD:0022524,GARD:0021267,GARD:0007392,Rare neurologic disease +GARD:0021268,GARD:0022531,GARD:0021285,GARD:0010793,Rare genetic disease +GARD:0021268,GARD:0022531,GARD:0021285,GARD:0007392,Rare genetic disease +GARD:0021268,GARD:0022524,GARD:0021267,GARD:0013168,Rare neurologic disease +GARD:0021268,GARD:0022531,GARD:0021285,GARD:0017273,Rare genetic disease +GARD:0021269,GARD:0022524,GARD:0022008,GARD:0018869,Rare neurologic disease +GARD:0021269,GARD:0022524,GARD:0022008,GARD:0008563,Rare neurologic disease +GARD:0021269,GARD:0022524,GARD:0022008,GARD:0007893,Rare neurologic disease +GARD:0021269,GARD:0022524,GARD:0022008,GARD:0003948,Rare neurologic disease +GARD:0021269,GARD:0022524,GARD:0022008,GARD:0009501,Rare neurologic disease +GARD:0021269,GARD:0022524,GARD:0022008,GARD:0016806,Rare neurologic disease +GARD:0021269,GARD:0022524,GARD:0022008,GARD:0017798,Rare neurologic disease +GARD:0021270,GARD:0022524,GARD:0022008,GARD:0021579,Rare neurologic disease +GARD:0021270,GARD:0022524,GARD:0022008,GARD:0021271,Rare neurologic disease +GARD:0021270,GARD:0022524,GARD:0022008,GARD:0021272,Rare neurologic disease +GARD:0021271,GARD:0022531,GARD:0022013,GARD:0017906,Rare genetic disease +GARD:0021271,GARD:0022524,GARD:0021270,GARD:0012163,Rare neurologic disease +GARD:0021271,GARD:0022524,GARD:0021270,GARD:0010510,Rare neurologic disease +GARD:0021271,GARD:0022531,GARD:0022013,GARD:0016985,Rare genetic disease +GARD:0021271,GARD:0022531,GARD:0022013,GARD:0006677,Rare genetic disease +GARD:0021271,GARD:0022531,GARD:0022013,GARD:0001305,Rare genetic disease +GARD:0021271,GARD:0022524,GARD:0021270,GARD:0021702,Rare neurologic disease +GARD:0021271,GARD:0022524,GARD:0021270,GARD:0006677,Rare neurologic disease +GARD:0021271,GARD:0022531,GARD:0022013,GARD:0010510,Rare genetic disease +GARD:0021271,GARD:0022524,GARD:0021270,GARD:0016985,Rare neurologic disease +GARD:0021271,GARD:0022531,GARD:0022013,GARD:0021702,Rare genetic disease +GARD:0021271,GARD:0022524,GARD:0021270,GARD:0001305,Rare neurologic disease +GARD:0021271,GARD:0022524,GARD:0021270,GARD:0017906,Rare neurologic disease +GARD:0021271,GARD:0022531,GARD:0022013,GARD:0012163,Rare genetic disease +GARD:0021272,GARD:0022524,GARD:0021270,GARD:0007716,Rare neurologic disease +GARD:0021272,GARD:0022524,GARD:0021270,GARD:0007312,Rare neurologic disease +GARD:0021273,GARD:0022524,GARD:0018882,,Rare neurologic disease +GARD:0021274,GARD:0022524,GARD:0022008,GARD:0021276,Rare neurologic disease +GARD:0021274,GARD:0022524,GARD:0022008,GARD:0021275,Rare neurologic disease +GARD:0021275,GARD:0022524,GARD:0021274,GARD:0016758,Rare neurologic disease +GARD:0021275,GARD:0022531,GARD:0021287,GARD:0016758,Rare genetic disease +GARD:0021275,GARD:0022531,GARD:0021287,GARD:0017444,Rare genetic disease +GARD:0021275,GARD:0022524,GARD:0021274,GARD:0017444,Rare neurologic disease +GARD:0021275,GARD:0022531,GARD:0021287,GARD:0007139,Rare genetic disease +GARD:0021275,GARD:0022524,GARD:0021274,GARD:0007139,Rare neurologic disease +GARD:0021276,GARD:0022524,GARD:0021274,GARD:0007889,Rare neurologic disease +GARD:0021276,GARD:0022524,GARD:0021274,GARD:0010009,Rare neurologic disease +GARD:0021276,GARD:0022524,GARD:0021274,GARD:0021277,Rare neurologic disease +GARD:0021277,GARD:0022531,GARD:0021288,GARD:0021278,Rare genetic disease +GARD:0021277,GARD:0022531,GARD:0021288,GARD:0007140,Rare genetic disease +GARD:0021277,GARD:0022524,GARD:0021276,GARD:0021278,Rare neurologic disease +GARD:0021277,GARD:0022524,GARD:0021276,GARD:0007140,Rare neurologic disease +GARD:0021278,GARD:0022531,GARD:0021277,GARD:0006808,Rare genetic disease +GARD:0021278,GARD:0022524,GARD:0021277,GARD:0006808,Rare neurologic disease +GARD:0021278,GARD:0022524,GARD:0021277,GARD:0019087,Rare neurologic disease +GARD:0021279,GARD:0022531,GARD:0022013,GARD:0012825,Rare genetic disease +GARD:0021279,GARD:0022531,GARD:0022013,GARD:0012173,Rare genetic disease +GARD:0021279,GARD:0022531,GARD:0022013,GARD:0004694,Rare genetic disease +GARD:0021279,GARD:0022524,GARD:0022008,GARD:0012825,Rare neurologic disease +GARD:0021279,GARD:0022524,GARD:0022008,GARD:0004694,Rare neurologic disease +GARD:0021279,GARD:0022524,GARD:0022008,GARD:0012173,Rare neurologic disease +GARD:0021279,GARD:0022531,GARD:0022013,GARD:0007891,Rare genetic disease +GARD:0021279,GARD:0022524,GARD:0022008,GARD:0006464,Rare neurologic disease +GARD:0021279,GARD:0022524,GARD:0022008,GARD:0005696,Rare neurologic disease +GARD:0021279,GARD:0022531,GARD:0022013,GARD:0005696,Rare genetic disease +GARD:0021279,GARD:0022524,GARD:0022008,GARD:0007891,Rare neurologic disease +GARD:0021279,GARD:0022531,GARD:0022013,GARD:0006464,Rare genetic disease +GARD:0021280,GARD:0022524,GARD:0019817,GARD:0020340,Rare neurologic disease +GARD:0021280,GARD:0022524,GARD:0019817,GARD:0004176,Rare neurologic disease +GARD:0021280,GARD:0022531,GARD:0020287,GARD:0012722,Rare genetic disease +GARD:0021280,GARD:0022531,GARD:0020287,GARD:0020340,Rare genetic disease +GARD:0021280,GARD:0022531,GARD:0020287,GARD:0004176,Rare genetic disease +GARD:0021280,GARD:0022524,GARD:0019817,GARD:0012722,Rare neurologic disease +GARD:0021280,GARD:0022524,GARD:0019817,GARD:0009684,Rare neurologic disease +GARD:0021281,GARD:0022524,GARD:0019817,GARD:0003129,Rare neurologic disease +GARD:0021281,GARD:0022524,GARD:0019817,GARD:0021282,Rare neurologic disease +GARD:0021281,GARD:0022524,GARD:0019817,GARD:0017010,Rare neurologic disease +GARD:0021282,GARD:0022524,GARD:0021281,,Rare neurologic disease +GARD:0021283,GARD:0022531,GARD:0020287,GARD:0009628,Rare genetic disease +GARD:0021283,GARD:0022531,GARD:0020287,GARD:0021284,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0010453,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0022077,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0006406,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0010706,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0003203,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0018028,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0010539,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0017621,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0017684,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0017567,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0010484,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0021262,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0016610,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0009175,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0010533,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0012568,Rare genetic disease +GARD:0021284,GARD:0022531,GARD:0021283,GARD:0017146,Rare genetic disease +GARD:0021285,GARD:0022531,GARD:0020287,GARD:0010469,Rare genetic disease +GARD:0021285,GARD:0022531,GARD:0020287,GARD:0017307,Rare genetic disease +GARD:0021285,GARD:0022531,GARD:0020287,GARD:0012978,Rare genetic disease +GARD:0021285,GARD:0022531,GARD:0020287,GARD:0005040,Rare genetic disease +GARD:0021285,GARD:0022531,GARD:0020287,GARD:0013658,Rare genetic disease +GARD:0021285,GARD:0022531,GARD:0020287,GARD:0021268,Rare genetic disease +GARD:0021285,GARD:0022531,GARD:0020287,GARD:0010902,Rare genetic disease +GARD:0021285,GARD:0022531,GARD:0020287,GARD:0003971,Rare genetic disease +GARD:0021285,GARD:0022531,GARD:0020287,GARD:0011899,Rare genetic disease +GARD:0021285,GARD:0022531,GARD:0020287,GARD:0016986,Rare genetic disease +GARD:0021286,GARD:0022531,GARD:0022013,GARD:0017798,Rare genetic disease +GARD:0021286,GARD:0022531,GARD:0022013,GARD:0009501,Rare genetic disease +GARD:0021286,GARD:0022531,GARD:0022013,GARD:0016806,Rare genetic disease +GARD:0021286,GARD:0022531,GARD:0022013,GARD:0018869,Rare genetic disease +GARD:0021286,GARD:0022531,GARD:0022013,GARD:0007893,Rare genetic disease +GARD:0021287,GARD:0022531,GARD:0022013,GARD:0021288,Rare genetic disease +GARD:0021287,GARD:0022531,GARD:0022013,GARD:0021275,Rare genetic disease +GARD:0021288,GARD:0022531,GARD:0021287,GARD:0021277,Rare genetic disease +GARD:0021289,GARD:0022510,GARD:0018988,GARD:0021290,Rare skin disease +GARD:0021289,GARD:0022531,GARD:0018988,GARD:0021291,Rare genetic disease +GARD:0021289,GARD:0022510,GARD:0018988,GARD:0021291,Rare skin disease +GARD:0021289,GARD:0022531,GARD:0018988,GARD:0021290,Rare genetic disease +GARD:0021290,GARD:0022531,GARD:0021289,GARD:0019450,Rare genetic disease +GARD:0021290,GARD:0022510,GARD:0021289,GARD:0019450,Rare skin disease +GARD:0021290,GARD:0022531,GARD:0021289,GARD:0019447,Rare genetic disease +GARD:0021290,GARD:0022510,GARD:0021289,GARD:0019447,Rare skin disease +GARD:0021291,GARD:0022510,GARD:0021289,GARD:0019448,Rare skin disease +GARD:0021291,GARD:0022531,GARD:0021289,GARD:0019448,Rare genetic disease +GARD:0021291,GARD:0022510,GARD:0021289,GARD:0021293,Rare skin disease +GARD:0021291,GARD:0022531,GARD:0021289,GARD:0021293,Rare genetic disease +GARD:0021292,GARD:0022510,GARD:0019448,GARD:0017306,Rare skin disease +GARD:0021292,GARD:0022531,GARD:0019448,GARD:0017306,Rare genetic disease +GARD:0021292,GARD:0022531,GARD:0019448,GARD:0004075,Rare genetic disease +GARD:0021292,GARD:0022510,GARD:0019448,GARD:0004075,Rare skin disease +GARD:0021292,GARD:0022531,GARD:0019448,GARD:0003092,Rare genetic disease +GARD:0021292,GARD:0022531,GARD:0019448,GARD:0016719,Rare genetic disease +GARD:0021292,GARD:0022510,GARD:0019448,GARD:0016719,Rare skin disease +GARD:0021292,GARD:0022510,GARD:0019448,GARD:0003092,Rare skin disease +GARD:0021293,GARD:0022510,GARD:0021291,GARD:0001139,Rare skin disease +GARD:0021293,GARD:0022531,GARD:0021291,GARD:0017776,Rare genetic disease +GARD:0021293,GARD:0022510,GARD:0021291,GARD:0009795,Rare skin disease +GARD:0021293,GARD:0022510,GARD:0021291,GARD:0016649,Rare skin disease +GARD:0021293,GARD:0022531,GARD:0021291,GARD:0003113,Rare genetic disease +GARD:0021293,GARD:0022510,GARD:0021291,GARD:0017562,Rare skin disease +GARD:0021293,GARD:0022531,GARD:0021291,GARD:0003100,Rare genetic disease +GARD:0021293,GARD:0022531,GARD:0021291,GARD:0009795,Rare genetic disease +GARD:0021293,GARD:0022531,GARD:0021291,GARD:0005231,Rare genetic disease +GARD:0021293,GARD:0022531,GARD:0021291,GARD:0000044,Rare genetic disease +GARD:0021293,GARD:0022510,GARD:0021291,GARD:0016733,Rare skin disease +GARD:0021293,GARD:0022510,GARD:0021291,GARD:0003113,Rare skin disease +GARD:0021293,GARD:0022531,GARD:0021291,GARD:0004054,Rare genetic disease +GARD:0021293,GARD:0022531,GARD:0021291,GARD:0001139,Rare genetic disease +GARD:0021293,GARD:0022510,GARD:0021291,GARD:0000044,Rare skin disease +GARD:0021293,GARD:0022510,GARD:0021291,GARD:0017776,Rare skin disease +GARD:0021293,GARD:0022531,GARD:0021291,GARD:0016649,Rare genetic disease +GARD:0021293,GARD:0022510,GARD:0021291,GARD:0009940,Rare skin disease +GARD:0021293,GARD:0022510,GARD:0021291,GARD:0005231,Rare skin disease +GARD:0021293,GARD:0022510,GARD:0021291,GARD:0003100,Rare skin disease +GARD:0021293,GARD:0022531,GARD:0021291,GARD:0016733,Rare genetic disease +GARD:0021293,GARD:0022531,GARD:0021291,GARD:0017562,Rare genetic disease +GARD:0021293,GARD:0022531,GARD:0021291,GARD:0009940,Rare genetic disease +GARD:0021293,GARD:0022510,GARD:0021291,GARD:0004054,Rare skin disease +GARD:0021294,GARD:0022531,GARD:0018988,GARD:0021296,Rare genetic disease +GARD:0021294,GARD:0022531,GARD:0018988,GARD:0021295,Rare genetic disease +GARD:0021294,GARD:0022510,GARD:0018988,GARD:0021295,Rare skin disease +GARD:0021294,GARD:0022510,GARD:0018988,GARD:0021296,Rare skin disease +GARD:0021295,GARD:0022531,GARD:0021294,GARD:0017669,Rare genetic disease +GARD:0021295,GARD:0022510,GARD:0021294,GARD:0017596,Rare skin disease +GARD:0021295,GARD:0022531,GARD:0021294,GARD:0016705,Rare genetic disease +GARD:0021295,GARD:0022510,GARD:0021294,GARD:0016705,Rare skin disease +GARD:0021295,GARD:0022531,GARD:0021294,GARD:0017781,Rare genetic disease +GARD:0021295,GARD:0022510,GARD:0021294,GARD:0017781,Rare skin disease +GARD:0021295,GARD:0022510,GARD:0021294,GARD:0015016,Rare skin disease +GARD:0021295,GARD:0022531,GARD:0021294,GARD:0015016,Rare genetic disease +GARD:0021295,GARD:0022510,GARD:0021294,GARD:0017669,Rare skin disease +GARD:0021295,GARD:0022531,GARD:0021294,GARD:0017596,Rare genetic disease +GARD:0021296,GARD:0022510,GARD:0021294,GARD:0019449,Rare skin disease +GARD:0021296,GARD:0022531,GARD:0021294,GARD:0019449,Rare genetic disease +GARD:0021296,GARD:0022510,GARD:0021294,GARD:0019451,Rare skin disease +GARD:0021296,GARD:0022531,GARD:0021294,GARD:0019451,Rare genetic disease +GARD:0021297,GARD:0022531,GARD:0018988,GARD:0021300,Rare genetic disease +GARD:0021297,GARD:0022531,GARD:0018988,GARD:0018768,Rare genetic disease +GARD:0021297,GARD:0022510,GARD:0018988,GARD:0018768,Rare skin disease +GARD:0021297,GARD:0022510,GARD:0018988,GARD:0021300,Rare skin disease +GARD:0021298,GARD:0022531,GARD:0018768,GARD:0000125,Rare genetic disease +GARD:0021298,GARD:0022510,GARD:0018768,GARD:0000125,Rare skin disease +GARD:0021298,GARD:0022510,GARD:0018768,GARD:0021299,Rare skin disease +GARD:0021298,GARD:0022531,GARD:0018768,GARD:0021299,Rare genetic disease +GARD:0021299,GARD:0022531,GARD:0021298,,Rare genetic disease +GARD:0021299,GARD:0022510,GARD:0021298,,Rare skin disease +GARD:0021300,GARD:0022531,GARD:0021297,GARD:0021301,Rare genetic disease +GARD:0021300,GARD:0022510,GARD:0021297,GARD:0021301,Rare skin disease +GARD:0021300,GARD:0022510,GARD:0021297,GARD:0021302,Rare skin disease +GARD:0021300,GARD:0022531,GARD:0021297,GARD:0021302,Rare genetic disease +GARD:0021301,GARD:0022510,GARD:0021300,GARD:0016563,Rare skin disease +GARD:0021301,GARD:0022531,GARD:0021300,GARD:0012384,Rare genetic disease +GARD:0021301,GARD:0022531,GARD:0021300,GARD:0003095,Rare genetic disease +GARD:0021301,GARD:0022510,GARD:0021300,GARD:0012384,Rare skin disease +GARD:0021301,GARD:0022531,GARD:0021300,GARD:0016563,Rare genetic disease +GARD:0021301,GARD:0022510,GARD:0021300,GARD:0003095,Rare skin disease +GARD:0021302,GARD:0022531,GARD:0021300,GARD:0003232,Rare genetic disease +GARD:0021302,GARD:0022510,GARD:0021300,GARD:0003232,Rare skin disease +GARD:0021303,GARD:0022508,GARD:0018937,GARD:0000194,Rare inborn errors of metabolism +GARD:0021303,GARD:0022531,GARD:0018937,GARD:0000194,Rare genetic disease +GARD:0021304,GARD:0022508,GARD:0018945,GARD:0009741,Rare inborn errors of metabolism +GARD:0021304,GARD:0022508,GARD:0018945,GARD:0005984,Rare inborn errors of metabolism +GARD:0021304,GARD:0022531,GARD:0018945,GARD:0005984,Rare genetic disease +GARD:0021304,GARD:0022531,GARD:0018945,GARD:0009741,Rare genetic disease +GARD:0021305,GARD:0022531,GARD:0018948,GARD:0008424,Rare genetic disease +GARD:0021305,GARD:0022508,GARD:0018948,GARD:0008424,Rare inborn errors of metabolism +GARD:0021305,GARD:0022531,GARD:0018948,GARD:0006569,Rare genetic disease +GARD:0021305,GARD:0022508,GARD:0018948,GARD:0006569,Rare inborn errors of metabolism +GARD:0021306,GARD:0022508,GARD:0018946,GARD:0005287,Rare inborn errors of metabolism +GARD:0021306,GARD:0022508,GARD:0018946,GARD:0002818,Rare inborn errors of metabolism +GARD:0021306,GARD:0022531,GARD:0018946,GARD:0005287,Rare genetic disease +GARD:0021306,GARD:0022531,GARD:0018946,GARD:0002818,Rare genetic disease +GARD:0021306,GARD:0022531,GARD:0018946,GARD:0016541,Rare genetic disease +GARD:0021306,GARD:0022508,GARD:0018946,GARD:0016541,Rare inborn errors of metabolism +GARD:0021307,GARD:0022508,GARD:0018946,GARD:0006622,Rare inborn errors of metabolism +GARD:0021307,GARD:0022531,GARD:0018946,GARD:0002400,Rare genetic disease +GARD:0021307,GARD:0022531,GARD:0018946,GARD:0006622,Rare genetic disease +GARD:0021307,GARD:0022508,GARD:0018946,GARD:0002400,Rare inborn errors of metabolism +GARD:0021307,GARD:0022508,GARD:0018946,GARD:0006471,Rare inborn errors of metabolism +GARD:0021307,GARD:0022531,GARD:0018946,GARD:0006471,Rare genetic disease +GARD:0021308,GARD:0022508,GARD:0018946,GARD:0002424,Rare inborn errors of metabolism +GARD:0021308,GARD:0022531,GARD:0018946,GARD:0002424,Rare genetic disease +GARD:0021309,GARD:0022531,GARD:0018973,GARD:0010760,Rare genetic disease +GARD:0021309,GARD:0022508,GARD:0018973,GARD:0002513,Rare inborn errors of metabolism +GARD:0021309,GARD:0022508,GARD:0018973,GARD:0010760,Rare inborn errors of metabolism +GARD:0021309,GARD:0022531,GARD:0018973,GARD:0002513,Rare genetic disease +GARD:0021310,GARD:0022524,GARD:0005714,,Rare neurologic disease +GARD:0021310,GARD:0022536,GARD:0005714,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021310,GARD:0022531,GARD:0005714,,Rare genetic disease +GARD:0021310,GARD:0022508,GARD:0005714,,Rare inborn errors of metabolism +GARD:0021310,GARD:0022515,GARD:0005714,,Rare cardiac disease +GARD:0021311,GARD:0022508,GARD:0018958,GARD:0002807,Rare inborn errors of metabolism +GARD:0021311,GARD:0022508,GARD:0018958,GARD:0017246,Rare inborn errors of metabolism +GARD:0021311,GARD:0022531,GARD:0018958,GARD:0002807,Rare genetic disease +GARD:0021311,GARD:0022531,GARD:0018958,GARD:0017246,Rare genetic disease +GARD:0021312,GARD:0022508,GARD:0018946,GARD:0016530,Rare inborn errors of metabolism +GARD:0021312,GARD:0022531,GARD:0018946,GARD:0000234,Rare genetic disease +GARD:0021312,GARD:0022531,GARD:0018946,GARD:0016530,Rare genetic disease +GARD:0021312,GARD:0022508,GARD:0018946,GARD:0000234,Rare inborn errors of metabolism +GARD:0021313,GARD:0022508,GARD:0018946,GARD:0012311,Rare inborn errors of metabolism +GARD:0021313,GARD:0022508,GARD:0018946,GARD:0018957,Rare inborn errors of metabolism +GARD:0021313,GARD:0022531,GARD:0018946,GARD:0007710,Rare genetic disease +GARD:0021313,GARD:0022531,GARD:0018946,GARD:0017196,Rare genetic disease +GARD:0021313,GARD:0022531,GARD:0018946,GARD:0018957,Rare genetic disease +GARD:0021313,GARD:0022508,GARD:0018946,GARD:0017196,Rare inborn errors of metabolism +GARD:0021313,GARD:0022508,GARD:0018946,GARD:0006622,Rare inborn errors of metabolism +GARD:0021313,GARD:0022531,GARD:0018946,GARD:0006622,Rare genetic disease +GARD:0021313,GARD:0022531,GARD:0018946,GARD:0010372,Rare genetic disease +GARD:0021313,GARD:0022531,GARD:0018946,GARD:0019838,Rare genetic disease +GARD:0021313,GARD:0022531,GARD:0018946,GARD:0012311,Rare genetic disease +GARD:0021313,GARD:0022531,GARD:0018946,GARD:0009932,Rare genetic disease +GARD:0021313,GARD:0022508,GARD:0018946,GARD:0007710,Rare inborn errors of metabolism +GARD:0021313,GARD:0022508,GARD:0018946,GARD:0009932,Rare inborn errors of metabolism +GARD:0021313,GARD:0022508,GARD:0018946,GARD:0019838,Rare inborn errors of metabolism +GARD:0021313,GARD:0022508,GARD:0018946,GARD:0010372,Rare inborn errors of metabolism +GARD:0021314,GARD:0022531,GARD:0022508,GARD:0018981,Rare genetic disease +GARD:0021314,GARD:0022508,GARD:0022508,GARD:0021516,Rare inborn errors of metabolism +GARD:0021314,GARD:0022508,GARD:0022508,GARD:0021316,Rare inborn errors of metabolism +GARD:0021314,GARD:0022531,GARD:0022508,GARD:0019797,Rare genetic disease +GARD:0021314,GARD:0022508,GARD:0022508,GARD:0018981,Rare inborn errors of metabolism +GARD:0021314,GARD:0022508,GARD:0022508,GARD:0019797,Rare inborn errors of metabolism +GARD:0021314,GARD:0022531,GARD:0022508,GARD:0021316,Rare genetic disease +GARD:0021314,GARD:0022531,GARD:0022508,GARD:0021516,Rare genetic disease +GARD:0021315,GARD:0022513,GARD:0018969,GARD:0003588,Rare developmental defect during embryogenesis +GARD:0021315,GARD:0022513,GARD:0018969,GARD:0002788,Rare developmental defect during embryogenesis +GARD:0021315,GARD:0022531,GARD:0018969,GARD:0002788,Rare genetic disease +GARD:0021315,GARD:0022531,GARD:0022488,GARD:0002788,Rare genetic disease +GARD:0021315,GARD:0022525,GARD:0021453,GARD:0003588,Rare systemic or rheumatologic disease +GARD:0021315,GARD:0022508,GARD:0018969,GARD:0003588,Rare inborn errors of metabolism +GARD:0021315,GARD:0022510,GARD:0021162,GARD:0003588,Rare skin disease +GARD:0021315,GARD:0022531,GARD:0021453,GARD:0002788,Rare genetic disease +GARD:0021315,GARD:0022508,GARD:0018969,GARD:0002788,Rare inborn errors of metabolism +GARD:0021315,GARD:0021079,GARD:0021453,GARD:0002788,Rare systemic or rheumatological disease of childhood +GARD:0021315,GARD:0021079,GARD:0021453,GARD:0003588,Rare systemic or rheumatological disease of childhood +GARD:0021315,GARD:0022510,GARD:0021162,GARD:0002788,Rare skin disease +GARD:0021315,GARD:0022531,GARD:0018969,GARD:0003588,Rare genetic disease +GARD:0021315,GARD:0022531,GARD:0021453,GARD:0003588,Rare genetic disease +GARD:0021315,GARD:0022525,GARD:0021453,GARD:0002788,Rare systemic or rheumatologic disease +GARD:0021315,GARD:0022531,GARD:0022488,GARD:0003588,Rare genetic disease +GARD:0021316,GARD:0022531,GARD:0020062,GARD:0017403,Rare genetic disease +GARD:0021316,GARD:0022531,GARD:0020062,GARD:0017402,Rare genetic disease +GARD:0021316,GARD:0022531,GARD:0020062,GARD:0017401,Rare genetic disease +GARD:0021316,GARD:0022516,GARD:0019787,GARD:0017401,Rare gastroenterologic disease +GARD:0021316,GARD:0022531,GARD:0021314,GARD:0017403,Rare genetic disease +GARD:0021316,GARD:0022531,GARD:0021314,GARD:0017402,Rare genetic disease +GARD:0021316,GARD:0022508,GARD:0021314,GARD:0017403,Rare inborn errors of metabolism +GARD:0021316,GARD:0022531,GARD:0021314,GARD:0017401,Rare genetic disease +GARD:0021316,GARD:0022516,GARD:0019787,GARD:0017403,Rare gastroenterologic disease +GARD:0021316,GARD:0022508,GARD:0021314,GARD:0017402,Rare inborn errors of metabolism +GARD:0021316,GARD:0022508,GARD:0021314,GARD:0017401,Rare inborn errors of metabolism +GARD:0021316,GARD:0022516,GARD:0019787,GARD:0017402,Rare gastroenterologic disease +GARD:0021317,GARD:0022508,GARD:0018954,GARD:0003684,Rare inborn errors of metabolism +GARD:0021317,GARD:0022531,GARD:0018954,GARD:0021319,Rare genetic disease +GARD:0021317,GARD:0022531,GARD:0018954,GARD:0003684,Rare genetic disease +GARD:0021317,GARD:0022531,GARD:0018954,GARD:0021318,Rare genetic disease +GARD:0021317,GARD:0022508,GARD:0018954,GARD:0021319,Rare inborn errors of metabolism +GARD:0021317,GARD:0022531,GARD:0018954,GARD:0008387,Rare genetic disease +GARD:0021317,GARD:0022531,GARD:0018954,GARD:0002712,Rare genetic disease +GARD:0021317,GARD:0022508,GARD:0018954,GARD:0008387,Rare inborn errors of metabolism +GARD:0021317,GARD:0022508,GARD:0018954,GARD:0002712,Rare inborn errors of metabolism +GARD:0021317,GARD:0022508,GARD:0018954,GARD:0021318,Rare inborn errors of metabolism +GARD:0021318,GARD:0022508,GARD:0021317,GARD:0006523,Rare inborn errors of metabolism +GARD:0021318,GARD:0022531,GARD:0021317,GARD:0004822,Rare genetic disease +GARD:0021318,GARD:0022531,GARD:0021317,GARD:0006523,Rare genetic disease +GARD:0021318,GARD:0022508,GARD:0021317,GARD:0021498,Rare inborn errors of metabolism +GARD:0021318,GARD:0022531,GARD:0021317,GARD:0021498,Rare genetic disease +GARD:0021318,GARD:0022508,GARD:0021317,GARD:0005508,Rare inborn errors of metabolism +GARD:0021318,GARD:0022531,GARD:0021317,GARD:0005508,Rare genetic disease +GARD:0021318,GARD:0022531,GARD:0021317,GARD:0000540,Rare genetic disease +GARD:0021318,GARD:0022508,GARD:0021317,GARD:0004822,Rare inborn errors of metabolism +GARD:0021318,GARD:0022508,GARD:0021317,GARD:0000540,Rare inborn errors of metabolism +GARD:0021319,GARD:0022508,GARD:0021317,GARD:0009870,Rare inborn errors of metabolism +GARD:0021319,GARD:0022508,GARD:0021317,GARD:0006867,Rare inborn errors of metabolism +GARD:0021319,GARD:0022531,GARD:0021317,GARD:0006867,Rare genetic disease +GARD:0021319,GARD:0022531,GARD:0021317,GARD:0009870,Rare genetic disease +GARD:0021320,GARD:0022531,GARD:0018954,GARD:0001121,Rare genetic disease +GARD:0021320,GARD:0022531,GARD:0018954,GARD:0001120,Rare genetic disease +GARD:0021320,GARD:0022508,GARD:0018954,GARD:0005104,Rare inborn errors of metabolism +GARD:0021320,GARD:0022508,GARD:0018954,GARD:0001123,Rare inborn errors of metabolism +GARD:0021320,GARD:0022531,GARD:0018954,GARD:0005104,Rare genetic disease +GARD:0021320,GARD:0022531,GARD:0018954,GARD:0001123,Rare genetic disease +GARD:0021320,GARD:0022508,GARD:0018954,GARD:0001120,Rare inborn errors of metabolism +GARD:0021320,GARD:0022508,GARD:0018954,GARD:0001121,Rare inborn errors of metabolism +GARD:0021321,GARD:0022531,GARD:0018954,GARD:0003371,Rare genetic disease +GARD:0021321,GARD:0022508,GARD:0018954,GARD:0003371,Rare inborn errors of metabolism +GARD:0021322,GARD:0022508,GARD:0018771,GARD:0012963,Rare inborn errors of metabolism +GARD:0021322,GARD:0022508,GARD:0018771,GARD:0000022,Rare inborn errors of metabolism +GARD:0021322,GARD:0022508,GARD:0018771,GARD:0000001,Rare inborn errors of metabolism +GARD:0021322,GARD:0022531,GARD:0018771,GARD:0012963,Rare genetic disease +GARD:0021322,GARD:0022508,GARD:0018771,GARD:0020765,Rare inborn errors of metabolism +GARD:0021322,GARD:0022531,GARD:0018771,GARD:0000001,Rare genetic disease +GARD:0021322,GARD:0022531,GARD:0018771,GARD:0020765,Rare genetic disease +GARD:0021322,GARD:0022531,GARD:0018771,GARD:0000022,Rare genetic disease +GARD:0021322,GARD:0022508,GARD:0018771,GARD:0012632,Rare inborn errors of metabolism +GARD:0021322,GARD:0022508,GARD:0018771,GARD:0017231,Rare inborn errors of metabolism +GARD:0021322,GARD:0022508,GARD:0018771,GARD:0022231,Rare inborn errors of metabolism +GARD:0021322,GARD:0022531,GARD:0018771,GARD:0017231,Rare genetic disease +GARD:0021322,GARD:0022531,GARD:0018771,GARD:0017629,Rare genetic disease +GARD:0021322,GARD:0022508,GARD:0018771,GARD:0017629,Rare inborn errors of metabolism +GARD:0021322,GARD:0022508,GARD:0018771,GARD:0017983,Rare inborn errors of metabolism +GARD:0021322,GARD:0022508,GARD:0018771,GARD:0016561,Rare inborn errors of metabolism +GARD:0021322,GARD:0022531,GARD:0018771,GARD:0017983,Rare genetic disease +GARD:0021322,GARD:0022531,GARD:0018771,GARD:0022231,Rare genetic disease +GARD:0021322,GARD:0022531,GARD:0018771,GARD:0012632,Rare genetic disease +GARD:0021322,GARD:0022531,GARD:0018771,GARD:0016561,Rare genetic disease +GARD:0021323,GARD:0022531,GARD:0018890,GARD:0017406,Rare genetic disease +GARD:0021323,GARD:0022536,GARD:0012510,GARD:0017406,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021323,GARD:0022508,GARD:0012510,GARD:0007737,Rare inborn errors of metabolism +GARD:0021323,GARD:0022531,GARD:0018890,GARD:0007737,Rare genetic disease +GARD:0021323,GARD:0022531,GARD:0020280,GARD:0007737,Rare genetic disease +GARD:0021323,GARD:0022524,GARD:0012510,GARD:0007737,Rare neurologic disease +GARD:0021323,GARD:0022531,GARD:0018890,GARD:0002521,Rare genetic disease +GARD:0021323,GARD:0022508,GARD:0012510,GARD:0002521,Rare inborn errors of metabolism +GARD:0021323,GARD:0022524,GARD:0018890,GARD:0002521,Rare neurologic disease +GARD:0021323,GARD:0022536,GARD:0012510,GARD:0002521,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021323,GARD:0022524,GARD:0020240,GARD:0002521,Rare neurologic disease +GARD:0021323,GARD:0022524,GARD:0020240,GARD:0017406,Rare neurologic disease +GARD:0021323,GARD:0022524,GARD:0018890,GARD:0017406,Rare neurologic disease +GARD:0021323,GARD:0022524,GARD:0020240,GARD:0007737,Rare neurologic disease +GARD:0021323,GARD:0022524,GARD:0018890,GARD:0007737,Rare neurologic disease +GARD:0021323,GARD:0022531,GARD:0012510,GARD:0002521,Rare genetic disease +GARD:0021323,GARD:0022531,GARD:0012510,GARD:0007737,Rare genetic disease +GARD:0021323,GARD:0022524,GARD:0012510,GARD:0017406,Rare neurologic disease +GARD:0021323,GARD:0022524,GARD:0012510,GARD:0002521,Rare neurologic disease +GARD:0021323,GARD:0022536,GARD:0012510,GARD:0007737,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021323,GARD:0022508,GARD:0012510,GARD:0017406,Rare inborn errors of metabolism +GARD:0021323,GARD:0022531,GARD:0020280,GARD:0017406,Rare genetic disease +GARD:0021323,GARD:0022531,GARD:0020280,GARD:0002521,Rare genetic disease +GARD:0021323,GARD:0022531,GARD:0012510,GARD:0017406,Rare genetic disease +GARD:0021324,GARD:0022524,GARD:0007737,,Rare neurologic disease +GARD:0021324,GARD:0022531,GARD:0007737,,Rare genetic disease +GARD:0021324,GARD:0022508,GARD:0007737,,Rare inborn errors of metabolism +GARD:0021324,GARD:0022536,GARD:0007737,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021324,GARD:0022520,GARD:0007737,,Rare ophthalmic disorder +GARD:0021325,GARD:0022536,GARD:0007737,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021325,GARD:0022520,GARD:0007737,,Rare ophthalmic disorder +GARD:0021325,GARD:0022508,GARD:0007737,,Rare inborn errors of metabolism +GARD:0021325,GARD:0022524,GARD:0007737,,Rare neurologic disease +GARD:0021325,GARD:0022531,GARD:0007737,,Rare genetic disease +GARD:0021326,GARD:0022508,GARD:0007737,,Rare inborn errors of metabolism +GARD:0021326,GARD:0022531,GARD:0007737,,Rare genetic disease +GARD:0021326,GARD:0022524,GARD:0007737,,Rare neurologic disease +GARD:0021326,GARD:0022520,GARD:0007737,,Rare ophthalmic disorder +GARD:0021326,GARD:0022536,GARD:0007737,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021327,GARD:0022524,GARD:0007737,,Rare neurologic disease +GARD:0021327,GARD:0022520,GARD:0007737,,Rare ophthalmic disorder +GARD:0021327,GARD:0022536,GARD:0007737,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021327,GARD:0022508,GARD:0007737,,Rare inborn errors of metabolism +GARD:0021327,GARD:0022531,GARD:0007737,,Rare genetic disease +GARD:0021328,GARD:0022531,GARD:0003230,,Rare genetic disease +GARD:0021328,GARD:0022520,GARD:0003230,,Rare ophthalmic disorder +GARD:0021328,GARD:0022508,GARD:0003230,,Rare inborn errors of metabolism +GARD:0021328,GARD:0022536,GARD:0003230,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021328,GARD:0022524,GARD:0003230,,Rare neurologic disease +GARD:0021329,GARD:0022524,GARD:0003230,,Rare neurologic disease +GARD:0021329,GARD:0022536,GARD:0003230,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021329,GARD:0022520,GARD:0003230,,Rare ophthalmic disorder +GARD:0021329,GARD:0022531,GARD:0003230,,Rare genetic disease +GARD:0021329,GARD:0022508,GARD:0003230,,Rare inborn errors of metabolism +GARD:0021330,GARD:0022508,GARD:0003230,,Rare inborn errors of metabolism +GARD:0021330,GARD:0022531,GARD:0003230,,Rare genetic disease +GARD:0021330,GARD:0022536,GARD:0003230,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021330,GARD:0022520,GARD:0003230,,Rare ophthalmic disorder +GARD:0021330,GARD:0022524,GARD:0003230,,Rare neurologic disease +GARD:0021331,GARD:0022531,GARD:0022108,GARD:0007183,Rare genetic disease +GARD:0021331,GARD:0022531,GARD:0018977,GARD:0007639,Rare genetic disease +GARD:0021331,GARD:0022531,GARD:0022108,GARD:0007639,Rare genetic disease +GARD:0021331,GARD:0022508,GARD:0018977,GARD:0007183,Rare inborn errors of metabolism +GARD:0021331,GARD:0022520,GARD:0022108,GARD:0007639,Rare ophthalmic disorder +GARD:0021331,GARD:0022508,GARD:0018977,GARD:0007639,Rare inborn errors of metabolism +GARD:0021331,GARD:0022531,GARD:0018977,GARD:0007183,Rare genetic disease +GARD:0021331,GARD:0022520,GARD:0022108,GARD:0007183,Rare ophthalmic disorder +GARD:0021332,GARD:0022508,GARD:0018884,GARD:0004865,Rare inborn errors of metabolism +GARD:0021332,GARD:0022531,GARD:0018884,GARD:0004865,Rare genetic disease +GARD:0021333,GARD:0022531,GARD:0018884,GARD:0005714,Rare genetic disease +GARD:0021333,GARD:0022531,GARD:0018884,GARD:0009730,Rare genetic disease +GARD:0021333,GARD:0022508,GARD:0018884,GARD:0009730,Rare inborn errors of metabolism +GARD:0021333,GARD:0022508,GARD:0018884,GARD:0005714,Rare inborn errors of metabolism +GARD:0021334,GARD:0022508,GARD:0022508,GARD:0003100,Rare inborn errors of metabolism +GARD:0021334,GARD:0022508,GARD:0022508,GARD:0006035,Rare inborn errors of metabolism +GARD:0021334,GARD:0022531,GARD:0022508,GARD:0000044,Rare genetic disease +GARD:0021334,GARD:0022531,GARD:0022508,GARD:0006643,Rare genetic disease +GARD:0021334,GARD:0022531,GARD:0022508,GARD:0003100,Rare genetic disease +GARD:0021334,GARD:0022531,GARD:0022508,GARD:0006035,Rare genetic disease +GARD:0021334,GARD:0022508,GARD:0022508,GARD:0006643,Rare inborn errors of metabolism +GARD:0021334,GARD:0022508,GARD:0022508,GARD:0000044,Rare inborn errors of metabolism +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0012405,Rare inborn errors of metabolism +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0012401,Rare inborn errors of metabolism +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0009828,Rare inborn errors of metabolism +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0012417,Rare genetic disease +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0009833,Rare genetic disease +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0017603,Rare inborn errors of metabolism +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0012413,Rare genetic disease +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0009826,Rare genetic disease +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0017846,Rare inborn errors of metabolism +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0009839,Rare genetic disease +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0009833,Rare inborn errors of metabolism +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0009839,Rare inborn errors of metabolism +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0012413,Rare inborn errors of metabolism +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0017604,Rare genetic disease +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0017604,Rare inborn errors of metabolism +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0004329,Rare inborn errors of metabolism +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0017539,Rare inborn errors of metabolism +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0009837,Rare inborn errors of metabolism +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0012417,Rare inborn errors of metabolism +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0009826,Rare inborn errors of metabolism +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0009830,Rare genetic disease +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0017602,Rare genetic disease +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0012394,Rare genetic disease +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0012394,Rare inborn errors of metabolism +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0017602,Rare inborn errors of metabolism +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0009829,Rare inborn errors of metabolism +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0009836,Rare inborn errors of metabolism +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0009838,Rare genetic disease +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0009829,Rare genetic disease +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0010767,Rare genetic disease +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0017539,Rare genetic disease +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0012398,Rare genetic disease +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0009827,Rare genetic disease +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0009830,Rare inborn errors of metabolism +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0012398,Rare inborn errors of metabolism +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0009837,Rare genetic disease +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0012396,Rare genetic disease +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0009834,Rare inborn errors of metabolism +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0009828,Rare genetic disease +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0004329,Rare genetic disease +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0017603,Rare genetic disease +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0012396,Rare inborn errors of metabolism +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0012405,Rare genetic disease +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0010767,Rare inborn errors of metabolism +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0012401,Rare genetic disease +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0009827,Rare inborn errors of metabolism +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0009834,Rare genetic disease +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0009836,Rare genetic disease +GARD:0021335,GARD:0022531,GARD:0010307,GARD:0017846,Rare genetic disease +GARD:0021335,GARD:0022508,GARD:0010307,GARD:0009838,Rare inborn errors of metabolism +GARD:0021336,GARD:0022508,GARD:0010307,GARD:0021338,Rare inborn errors of metabolism +GARD:0021336,GARD:0022508,GARD:0010307,GARD:0021341,Rare inborn errors of metabolism +GARD:0021336,GARD:0022531,GARD:0010307,GARD:0021341,Rare genetic disease +GARD:0021336,GARD:0022531,GARD:0010307,GARD:0021338,Rare genetic disease +GARD:0021336,GARD:0022508,GARD:0010307,GARD:0021337,Rare inborn errors of metabolism +GARD:0021336,GARD:0022508,GARD:0010307,GARD:0021339,Rare inborn errors of metabolism +GARD:0021336,GARD:0022508,GARD:0010307,GARD:0021340,Rare inborn errors of metabolism +GARD:0021336,GARD:0022531,GARD:0010307,GARD:0021337,Rare genetic disease +GARD:0021336,GARD:0022531,GARD:0010307,GARD:0021339,Rare genetic disease +GARD:0021336,GARD:0022531,GARD:0010307,GARD:0021340,Rare genetic disease +GARD:0021337,GARD:0022508,GARD:0021336,GARD:0009679,Rare inborn errors of metabolism +GARD:0021337,GARD:0022508,GARD:0021336,GARD:0017869,Rare inborn errors of metabolism +GARD:0021337,GARD:0022531,GARD:0021336,GARD:0017308,Rare genetic disease +GARD:0021337,GARD:0022508,GARD:0021336,GARD:0017974,Rare inborn errors of metabolism +GARD:0021337,GARD:0022531,GARD:0021336,GARD:0008486,Rare genetic disease +GARD:0021337,GARD:0022531,GARD:0021336,GARD:0009991,Rare genetic disease +GARD:0021337,GARD:0022531,GARD:0021336,GARD:0004982,Rare genetic disease +GARD:0021337,GARD:0022531,GARD:0021336,GARD:0021599,Rare genetic disease +GARD:0021337,GARD:0022508,GARD:0021336,GARD:0017308,Rare inborn errors of metabolism +GARD:0021337,GARD:0022531,GARD:0021336,GARD:0013169,Rare genetic disease +GARD:0021337,GARD:0022531,GARD:0021336,GARD:0017836,Rare genetic disease +GARD:0021337,GARD:0022531,GARD:0021336,GARD:0017974,Rare genetic disease +GARD:0021337,GARD:0022531,GARD:0021336,GARD:0017869,Rare genetic disease +GARD:0021337,GARD:0022508,GARD:0021336,GARD:0008486,Rare inborn errors of metabolism +GARD:0021337,GARD:0022531,GARD:0021336,GARD:0009679,Rare genetic disease +GARD:0021337,GARD:0022508,GARD:0021336,GARD:0009991,Rare inborn errors of metabolism +GARD:0021337,GARD:0022508,GARD:0021336,GARD:0017836,Rare inborn errors of metabolism +GARD:0021337,GARD:0022508,GARD:0021336,GARD:0007035,Rare inborn errors of metabolism +GARD:0021337,GARD:0022531,GARD:0021336,GARD:0007035,Rare genetic disease +GARD:0021337,GARD:0022508,GARD:0021336,GARD:0013169,Rare inborn errors of metabolism +GARD:0021337,GARD:0022508,GARD:0021336,GARD:0021599,Rare inborn errors of metabolism +GARD:0021337,GARD:0022508,GARD:0021336,GARD:0004982,Rare inborn errors of metabolism +GARD:0021338,GARD:0022531,GARD:0021336,GARD:0010879,Rare genetic disease +GARD:0021338,GARD:0022508,GARD:0021336,GARD:0010879,Rare inborn errors of metabolism +GARD:0021339,GARD:0022531,GARD:0021336,GARD:0000169,Rare genetic disease +GARD:0021339,GARD:0022508,GARD:0021336,GARD:0000169,Rare inborn errors of metabolism +GARD:0021340,GARD:0022508,GARD:0021336,GARD:0017606,Rare inborn errors of metabolism +GARD:0021340,GARD:0022508,GARD:0021336,GARD:0012544,Rare inborn errors of metabolism +GARD:0021340,GARD:0022531,GARD:0021336,GARD:0000156,Rare genetic disease +GARD:0021340,GARD:0022508,GARD:0021336,GARD:0012539,Rare inborn errors of metabolism +GARD:0021340,GARD:0022531,GARD:0021336,GARD:0002599,Rare genetic disease +GARD:0021340,GARD:0022508,GARD:0021336,GARD:0012538,Rare inborn errors of metabolism +GARD:0021340,GARD:0022508,GARD:0021336,GARD:0006475,Rare inborn errors of metabolism +GARD:0021340,GARD:0022531,GARD:0021336,GARD:0012540,Rare genetic disease +GARD:0021340,GARD:0022531,GARD:0021336,GARD:0012539,Rare genetic disease +GARD:0021340,GARD:0022531,GARD:0021336,GARD:0012538,Rare genetic disease +GARD:0021340,GARD:0022531,GARD:0021336,GARD:0017606,Rare genetic disease +GARD:0021340,GARD:0022508,GARD:0021336,GARD:0017519,Rare inborn errors of metabolism +GARD:0021340,GARD:0022508,GARD:0021336,GARD:0017769,Rare inborn errors of metabolism +GARD:0021340,GARD:0022508,GARD:0021336,GARD:0012533,Rare inborn errors of metabolism +GARD:0021340,GARD:0022531,GARD:0021336,GARD:0012544,Rare genetic disease +GARD:0021340,GARD:0022531,GARD:0021336,GARD:0012533,Rare genetic disease +GARD:0021340,GARD:0022531,GARD:0021336,GARD:0017519,Rare genetic disease +GARD:0021340,GARD:0022531,GARD:0021336,GARD:0017769,Rare genetic disease +GARD:0021340,GARD:0022531,GARD:0021336,GARD:0006475,Rare genetic disease +GARD:0021340,GARD:0022508,GARD:0021336,GARD:0012540,Rare inborn errors of metabolism +GARD:0021340,GARD:0022508,GARD:0021336,GARD:0017605,Rare inborn errors of metabolism +GARD:0021340,GARD:0022531,GARD:0021336,GARD:0017605,Rare genetic disease +GARD:0021340,GARD:0022531,GARD:0021336,GARD:0012535,Rare genetic disease +GARD:0021340,GARD:0022508,GARD:0021336,GARD:0000156,Rare inborn errors of metabolism +GARD:0021340,GARD:0022508,GARD:0021336,GARD:0002599,Rare inborn errors of metabolism +GARD:0021340,GARD:0022508,GARD:0021336,GARD:0017607,Rare inborn errors of metabolism +GARD:0021340,GARD:0022508,GARD:0021336,GARD:0012535,Rare inborn errors of metabolism +GARD:0021340,GARD:0022531,GARD:0021336,GARD:0017607,Rare genetic disease +GARD:0021341,GARD:0022508,GARD:0021336,GARD:0006798,Rare inborn errors of metabolism +GARD:0021341,GARD:0022531,GARD:0021336,GARD:0009775,Rare genetic disease +GARD:0021341,GARD:0022508,GARD:0021336,GARD:0008422,Rare inborn errors of metabolism +GARD:0021341,GARD:0022531,GARD:0021336,GARD:0008422,Rare genetic disease +GARD:0021341,GARD:0022508,GARD:0021336,GARD:0009775,Rare inborn errors of metabolism +GARD:0021341,GARD:0022531,GARD:0021336,GARD:0006798,Rare genetic disease +GARD:0021342,GARD:0022531,GARD:0010307,GARD:0007337,Rare genetic disease +GARD:0021342,GARD:0022531,GARD:0010307,GARD:0021698,Rare genetic disease +GARD:0021342,GARD:0022531,GARD:0010307,GARD:0012059,Rare genetic disease +GARD:0021342,GARD:0022508,GARD:0010307,GARD:0000310,Rare inborn errors of metabolism +GARD:0021342,GARD:0022508,GARD:0010307,GARD:0012781,Rare inborn errors of metabolism +GARD:0021342,GARD:0022531,GARD:0010307,GARD:0017897,Rare genetic disease +GARD:0021342,GARD:0022508,GARD:0010307,GARD:0017584,Rare inborn errors of metabolism +GARD:0021342,GARD:0022531,GARD:0010307,GARD:0000310,Rare genetic disease +GARD:0021342,GARD:0022531,GARD:0010307,GARD:0017584,Rare genetic disease +GARD:0021342,GARD:0022508,GARD:0010307,GARD:0012059,Rare inborn errors of metabolism +GARD:0021342,GARD:0022508,GARD:0010307,GARD:0017897,Rare inborn errors of metabolism +GARD:0021342,GARD:0022531,GARD:0010307,GARD:0009965,Rare genetic disease +GARD:0021342,GARD:0022508,GARD:0010307,GARD:0021698,Rare inborn errors of metabolism +GARD:0021342,GARD:0022508,GARD:0010307,GARD:0017188,Rare inborn errors of metabolism +GARD:0021342,GARD:0022508,GARD:0010307,GARD:0012777,Rare inborn errors of metabolism +GARD:0021342,GARD:0022531,GARD:0010307,GARD:0017188,Rare genetic disease +GARD:0021342,GARD:0022531,GARD:0010307,GARD:0012777,Rare genetic disease +GARD:0021342,GARD:0022508,GARD:0010307,GARD:0007337,Rare inborn errors of metabolism +GARD:0021342,GARD:0022531,GARD:0010307,GARD:0012781,Rare genetic disease +GARD:0021342,GARD:0022508,GARD:0010307,GARD:0009965,Rare inborn errors of metabolism +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0009831,Rare inborn errors of metabolism +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0004331,Rare genetic disease +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0021344,Rare inborn errors of metabolism +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0009832,Rare inborn errors of metabolism +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0009832,Rare genetic disease +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0012403,Rare genetic disease +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0017845,Rare genetic disease +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0013621,Rare genetic disease +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0017825,Rare genetic disease +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0009841,Rare genetic disease +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0009831,Rare genetic disease +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0002001,Rare genetic disease +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0012393,Rare inborn errors of metabolism +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0009493,Rare genetic disease +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0012395,Rare inborn errors of metabolism +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0017845,Rare inborn errors of metabolism +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0004634,Rare inborn errors of metabolism +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0012397,Rare inborn errors of metabolism +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0009841,Rare inborn errors of metabolism +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0012416,Rare inborn errors of metabolism +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0004331,Rare inborn errors of metabolism +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0021345,Rare genetic disease +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0021344,Rare genetic disease +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0002001,Rare inborn errors of metabolism +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0012403,Rare inborn errors of metabolism +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0009493,Rare inborn errors of metabolism +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0012393,Rare genetic disease +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0021345,Rare inborn errors of metabolism +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0017825,Rare inborn errors of metabolism +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0012409,Rare genetic disease +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0012397,Rare genetic disease +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0012409,Rare inborn errors of metabolism +GARD:0021343,GARD:0022508,GARD:0010307,GARD:0013621,Rare inborn errors of metabolism +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0012395,Rare genetic disease +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0004634,Rare genetic disease +GARD:0021343,GARD:0022531,GARD:0010307,GARD:0012416,Rare genetic disease +GARD:0021344,GARD:0022531,GARD:0021343,GARD:0010944,Rare genetic disease +GARD:0021344,GARD:0022508,GARD:0021343,GARD:0012412,Rare inborn errors of metabolism +GARD:0021344,GARD:0022531,GARD:0021343,GARD:0012348,Rare genetic disease +GARD:0021344,GARD:0022531,GARD:0021343,GARD:0012412,Rare genetic disease +GARD:0021344,GARD:0022531,GARD:0021343,GARD:0017720,Rare genetic disease +GARD:0021344,GARD:0022531,GARD:0021343,GARD:0009842,Rare genetic disease +GARD:0021344,GARD:0022508,GARD:0021343,GARD:0017720,Rare inborn errors of metabolism +GARD:0021344,GARD:0022508,GARD:0021343,GARD:0012348,Rare inborn errors of metabolism +GARD:0021344,GARD:0022531,GARD:0021343,GARD:0010226,Rare genetic disease +GARD:0021344,GARD:0022508,GARD:0021343,GARD:0012411,Rare inborn errors of metabolism +GARD:0021344,GARD:0022508,GARD:0021343,GARD:0010944,Rare inborn errors of metabolism +GARD:0021344,GARD:0022508,GARD:0021343,GARD:0009842,Rare inborn errors of metabolism +GARD:0021344,GARD:0022508,GARD:0021343,GARD:0010226,Rare inborn errors of metabolism +GARD:0021344,GARD:0022531,GARD:0021343,GARD:0012411,Rare genetic disease +GARD:0021345,GARD:0022531,GARD:0021343,GARD:0001638,Rare genetic disease +GARD:0021345,GARD:0022508,GARD:0021343,GARD:0001638,Rare inborn errors of metabolism +GARD:0021346,GARD:0022508,GARD:0022508,GARD:0010353,Rare inborn errors of metabolism +GARD:0021346,GARD:0022531,GARD:0022508,GARD:0010353,Rare genetic disease +GARD:0021346,GARD:0022508,GARD:0022508,GARD:0017995,Rare inborn errors of metabolism +GARD:0021346,GARD:0022531,GARD:0022508,GARD:0021347,Rare genetic disease +GARD:0021346,GARD:0022508,GARD:0022508,GARD:0009456,Rare inborn errors of metabolism +GARD:0021346,GARD:0022508,GARD:0022508,GARD:0021347,Rare inborn errors of metabolism +GARD:0021346,GARD:0022531,GARD:0022508,GARD:0009456,Rare genetic disease +GARD:0021346,GARD:0022531,GARD:0022508,GARD:0017995,Rare genetic disease +GARD:0021347,GARD:0022508,GARD:0021346,GARD:0012185,Rare inborn errors of metabolism +GARD:0021347,GARD:0022531,GARD:0021346,GARD:0012185,Rare genetic disease +GARD:0021347,GARD:0022531,GARD:0021346,GARD:0016526,Rare genetic disease +GARD:0021347,GARD:0022531,GARD:0021346,GARD:0015255,Rare genetic disease +GARD:0021347,GARD:0022508,GARD:0021346,GARD:0000218,Rare inborn errors of metabolism +GARD:0021347,GARD:0022508,GARD:0021346,GARD:0016526,Rare inborn errors of metabolism +GARD:0021347,GARD:0022508,GARD:0021346,GARD:0015255,Rare inborn errors of metabolism +GARD:0021347,GARD:0022531,GARD:0021346,GARD:0002793,Rare genetic disease +GARD:0021347,GARD:0022508,GARD:0021346,GARD:0002793,Rare inborn errors of metabolism +GARD:0021347,GARD:0022531,GARD:0021346,GARD:0000794,Rare genetic disease +GARD:0021347,GARD:0022508,GARD:0021346,GARD:0006830,Rare inborn errors of metabolism +GARD:0021347,GARD:0022508,GARD:0021346,GARD:0000794,Rare inborn errors of metabolism +GARD:0021347,GARD:0022531,GARD:0021346,GARD:0000218,Rare genetic disease +GARD:0021348,GARD:0022531,GARD:0018890,GARD:0012144,Rare genetic disease +GARD:0021348,GARD:0022524,GARD:0018890,GARD:0017950,Rare neurologic disease +GARD:0021348,GARD:0022531,GARD:0018950,GARD:0017950,Rare genetic disease +GARD:0021348,GARD:0022531,GARD:0018890,GARD:0007751,Rare genetic disease +GARD:0021348,GARD:0022524,GARD:0018890,GARD:0007751,Rare neurologic disease +GARD:0021348,GARD:0022531,GARD:0018890,GARD:0017950,Rare genetic disease +GARD:0021348,GARD:0022508,GARD:0018950,GARD:0012144,Rare inborn errors of metabolism +GARD:0021348,GARD:0022508,GARD:0018950,GARD:0017950,Rare inborn errors of metabolism +GARD:0021348,GARD:0022524,GARD:0018890,GARD:0012144,Rare neurologic disease +GARD:0021348,GARD:0022508,GARD:0018950,GARD:0007751,Rare inborn errors of metabolism +GARD:0021348,GARD:0022531,GARD:0018950,GARD:0007751,Rare genetic disease +GARD:0021348,GARD:0022531,GARD:0018950,GARD:0012144,Rare genetic disease +GARD:0021349,GARD:0022508,GARD:0022508,GARD:0021350,Rare inborn errors of metabolism +GARD:0021349,GARD:0022531,GARD:0022508,GARD:0021350,Rare genetic disease +GARD:0021349,GARD:0022531,GARD:0022508,GARD:0021353,Rare genetic disease +GARD:0021349,GARD:0022508,GARD:0022508,GARD:0021353,Rare inborn errors of metabolism +GARD:0021350,GARD:0022508,GARD:0021349,GARD:0021352,Rare inborn errors of metabolism +GARD:0021350,GARD:0022531,GARD:0021349,GARD:0021231,Rare genetic disease +GARD:0021350,GARD:0022531,GARD:0021349,GARD:0018951,Rare genetic disease +GARD:0021350,GARD:0022531,GARD:0021349,GARD:0021131,Rare genetic disease +GARD:0021350,GARD:0022508,GARD:0021349,GARD:0021231,Rare inborn errors of metabolism +GARD:0021350,GARD:0022508,GARD:0021349,GARD:0018951,Rare inborn errors of metabolism +GARD:0021350,GARD:0022508,GARD:0021349,GARD:0021131,Rare inborn errors of metabolism +GARD:0021350,GARD:0022531,GARD:0021349,GARD:0021352,Rare genetic disease +GARD:0021351,GARD:0022531,GARD:0018950,GARD:0001903,Rare genetic disease +GARD:0021351,GARD:0022508,GARD:0018950,GARD:0000770,Rare inborn errors of metabolism +GARD:0021351,GARD:0022508,GARD:0018950,GARD:0001903,Rare inborn errors of metabolism +GARD:0021351,GARD:0022531,GARD:0018950,GARD:0000770,Rare genetic disease +GARD:0021352,GARD:0022508,GARD:0021350,GARD:0000894,Rare inborn errors of metabolism +GARD:0021352,GARD:0022531,GARD:0021350,GARD:0006564,Rare genetic disease +GARD:0021352,GARD:0022531,GARD:0021350,GARD:0017686,Rare genetic disease +GARD:0021352,GARD:0022508,GARD:0021350,GARD:0003705,Rare inborn errors of metabolism +GARD:0021352,GARD:0022508,GARD:0021350,GARD:0006564,Rare inborn errors of metabolism +GARD:0021352,GARD:0022508,GARD:0021350,GARD:0016856,Rare inborn errors of metabolism +GARD:0021352,GARD:0022531,GARD:0021350,GARD:0017529,Rare genetic disease +GARD:0021352,GARD:0022531,GARD:0021350,GARD:0008595,Rare genetic disease +GARD:0021352,GARD:0022531,GARD:0021350,GARD:0017090,Rare genetic disease +GARD:0021352,GARD:0022508,GARD:0021350,GARD:0017529,Rare inborn errors of metabolism +GARD:0021352,GARD:0022508,GARD:0021350,GARD:0008595,Rare inborn errors of metabolism +GARD:0021352,GARD:0022531,GARD:0021350,GARD:0010730,Rare genetic disease +GARD:0021352,GARD:0022508,GARD:0021350,GARD:0017090,Rare inborn errors of metabolism +GARD:0021352,GARD:0022531,GARD:0021350,GARD:0003705,Rare genetic disease +GARD:0021352,GARD:0022508,GARD:0021350,GARD:0017686,Rare inborn errors of metabolism +GARD:0021352,GARD:0022531,GARD:0021350,GARD:0016856,Rare genetic disease +GARD:0021352,GARD:0022508,GARD:0021350,GARD:0010730,Rare inborn errors of metabolism +GARD:0021352,GARD:0022531,GARD:0021350,GARD:0000894,Rare genetic disease +GARD:0021353,GARD:0022508,GARD:0021349,GARD:0021355,Rare inborn errors of metabolism +GARD:0021353,GARD:0022531,GARD:0021349,GARD:0021357,Rare genetic disease +GARD:0021353,GARD:0022531,GARD:0021349,GARD:0021355,Rare genetic disease +GARD:0021353,GARD:0022508,GARD:0021349,GARD:0021354,Rare inborn errors of metabolism +GARD:0021353,GARD:0022531,GARD:0021349,GARD:0021356,Rare genetic disease +GARD:0021353,GARD:0022508,GARD:0021349,GARD:0021358,Rare inborn errors of metabolism +GARD:0021353,GARD:0022531,GARD:0021349,GARD:0021354,Rare genetic disease +GARD:0021353,GARD:0022508,GARD:0021349,GARD:0021356,Rare inborn errors of metabolism +GARD:0021353,GARD:0022508,GARD:0021349,GARD:0021357,Rare inborn errors of metabolism +GARD:0021353,GARD:0022531,GARD:0021349,GARD:0021358,Rare genetic disease +GARD:0021354,GARD:0022531,GARD:0021353,GARD:0022143,Rare genetic disease +GARD:0021354,GARD:0022531,GARD:0021353,GARD:0007893,Rare genetic disease +GARD:0021354,GARD:0022508,GARD:0021353,GARD:0001521,Rare inborn errors of metabolism +GARD:0021354,GARD:0022531,GARD:0021353,GARD:0001522,Rare genetic disease +GARD:0021354,GARD:0022531,GARD:0021353,GARD:0017072,Rare genetic disease +GARD:0021354,GARD:0022508,GARD:0021353,GARD:0004017,Rare inborn errors of metabolism +GARD:0021354,GARD:0022508,GARD:0021353,GARD:0007893,Rare inborn errors of metabolism +GARD:0021354,GARD:0022508,GARD:0021353,GARD:0001522,Rare inborn errors of metabolism +GARD:0021354,GARD:0022508,GARD:0021353,GARD:0022143,Rare inborn errors of metabolism +GARD:0021354,GARD:0022531,GARD:0021353,GARD:0004017,Rare genetic disease +GARD:0021354,GARD:0022508,GARD:0021353,GARD:0017072,Rare inborn errors of metabolism +GARD:0021354,GARD:0022531,GARD:0021353,GARD:0001521,Rare genetic disease +GARD:0021355,GARD:0022531,GARD:0021353,GARD:0020540,Rare genetic disease +GARD:0021355,GARD:0022531,GARD:0021353,GARD:0009499,Rare genetic disease +GARD:0021355,GARD:0022531,GARD:0021353,GARD:0010686,Rare genetic disease +GARD:0021355,GARD:0022508,GARD:0021353,GARD:0020540,Rare inborn errors of metabolism +GARD:0021355,GARD:0022531,GARD:0021353,GARD:0008495,Rare genetic disease +GARD:0021355,GARD:0022531,GARD:0021353,GARD:0007172,Rare genetic disease +GARD:0021355,GARD:0022531,GARD:0021353,GARD:0009595,Rare genetic disease +GARD:0021355,GARD:0022508,GARD:0021353,GARD:0007172,Rare inborn errors of metabolism +GARD:0021355,GARD:0022508,GARD:0021353,GARD:0008495,Rare inborn errors of metabolism +GARD:0021355,GARD:0022508,GARD:0021353,GARD:0012360,Rare inborn errors of metabolism +GARD:0021355,GARD:0022531,GARD:0021353,GARD:0013472,Rare genetic disease +GARD:0021355,GARD:0022508,GARD:0021353,GARD:0009595,Rare inborn errors of metabolism +GARD:0021355,GARD:0022508,GARD:0021353,GARD:0010686,Rare inborn errors of metabolism +GARD:0021355,GARD:0022531,GARD:0021353,GARD:0012360,Rare genetic disease +GARD:0021355,GARD:0022508,GARD:0021353,GARD:0009499,Rare inborn errors of metabolism +GARD:0021355,GARD:0022508,GARD:0021353,GARD:0013472,Rare inborn errors of metabolism +GARD:0021356,GARD:0022531,GARD:0021353,GARD:0005723,Rare genetic disease +GARD:0021356,GARD:0022508,GARD:0021353,GARD:0017213,Rare inborn errors of metabolism +GARD:0021356,GARD:0022508,GARD:0021353,GARD:0005723,Rare inborn errors of metabolism +GARD:0021356,GARD:0022531,GARD:0021353,GARD:0017943,Rare genetic disease +GARD:0021356,GARD:0022531,GARD:0021353,GARD:0017213,Rare genetic disease +GARD:0021356,GARD:0022508,GARD:0021353,GARD:0017943,Rare inborn errors of metabolism +GARD:0021357,GARD:0022531,GARD:0021353,GARD:0021254,Rare genetic disease +GARD:0021357,GARD:0022508,GARD:0021353,GARD:0022484,Rare inborn errors of metabolism +GARD:0021357,GARD:0022531,GARD:0021353,GARD:0022266,Rare genetic disease +GARD:0021357,GARD:0022531,GARD:0021353,GARD:0022484,Rare genetic disease +GARD:0021357,GARD:0022508,GARD:0021353,GARD:0003350,Rare inborn errors of metabolism +GARD:0021357,GARD:0022508,GARD:0021353,GARD:0013072,Rare inborn errors of metabolism +GARD:0021357,GARD:0022508,GARD:0021353,GARD:0020334,Rare inborn errors of metabolism +GARD:0021357,GARD:0022508,GARD:0021353,GARD:0021254,Rare inborn errors of metabolism +GARD:0021357,GARD:0022508,GARD:0021353,GARD:0022266,Rare inborn errors of metabolism +GARD:0021357,GARD:0022508,GARD:0021353,GARD:0022485,Rare inborn errors of metabolism +GARD:0021357,GARD:0022531,GARD:0021353,GARD:0013072,Rare genetic disease +GARD:0021357,GARD:0022531,GARD:0021353,GARD:0003350,Rare genetic disease +GARD:0021357,GARD:0022531,GARD:0021353,GARD:0020334,Rare genetic disease +GARD:0021357,GARD:0022531,GARD:0021353,GARD:0022485,Rare genetic disease +GARD:0021358,GARD:0022508,GARD:0021353,GARD:0017846,Rare inborn errors of metabolism +GARD:0021358,GARD:0022508,GARD:0021353,GARD:0010706,Rare inborn errors of metabolism +GARD:0021358,GARD:0022531,GARD:0021353,GARD:0017958,Rare genetic disease +GARD:0021358,GARD:0022508,GARD:0021353,GARD:0017958,Rare inborn errors of metabolism +GARD:0021358,GARD:0022531,GARD:0021353,GARD:0010706,Rare genetic disease +GARD:0021358,GARD:0022531,GARD:0021353,GARD:0017846,Rare genetic disease +GARD:0021359,GARD:0022523,GARD:0022523,GARD:0008622,Rare immune disease +GARD:0021359,GARD:0022523,GARD:0022523,GARD:0011992,Rare immune disease +GARD:0021359,GARD:0022523,GARD:0022523,GARD:0019122,Rare immune disease +GARD:0021359,GARD:0022523,GARD:0022523,GARD:0020167,Rare immune disease +GARD:0021360,GARD:0022513,GARD:0020820,,Rare developmental defect during embryogenesis +GARD:0021360,GARD:0022531,GARD:0020820,,Rare genetic disease +GARD:0021360,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021360,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021360,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021361,GARD:0022536,GARD:0022062,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021361,GARD:0022516,GARD:0019787,,Rare gastroenterologic disease +GARD:0021362,GARD:0022516,GARD:0021757,,Rare gastroenterologic disease +GARD:0021362,GARD:0022535,GARD:0021148,,Rare neoplastic disease +GARD:0021362,GARD:0022535,GARD:0021757,,Rare neoplastic disease +GARD:0021363,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021363,GARD:0022513,GARD:0020873,,Rare developmental defect during embryogenesis +GARD:0021363,GARD:0022531,GARD:0020873,,Rare genetic disease +GARD:0021363,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021363,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021364,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0021364,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0021365,GARD:0022520,GARD:0022091,,Rare ophthalmic disorder +GARD:0021366,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0021366,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0021366,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0021367,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021367,GARD:0022513,GARD:0020864,,Rare developmental defect during embryogenesis +GARD:0021367,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021367,GARD:0022531,GARD:0020864,,Rare genetic disease +GARD:0021367,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021368,GARD:0022531,GARD:0019905,,Rare genetic disease +GARD:0021368,GARD:0022513,GARD:0019905,,Rare developmental defect during embryogenesis +GARD:0021369,GARD:0022513,GARD:0020917,,Rare developmental defect during embryogenesis +GARD:0021369,GARD:0022524,GARD:0010248,,Rare neurologic disease +GARD:0021369,GARD:0022531,GARD:0010248,,Rare genetic disease +GARD:0021369,GARD:0022531,GARD:0020917,,Rare genetic disease +GARD:0021370,GARD:0022535,GARD:0021163,GARD:0021870,Rare neoplastic disease +GARD:0021370,GARD:0022535,GARD:0021163,GARD:0005747,Rare neoplastic disease +GARD:0021370,GARD:0022526,GARD:0022526,GARD:0011855,Rare odontologic disease +GARD:0021370,GARD:0022535,GARD:0021163,GARD:0011855,Rare neoplastic disease +GARD:0021370,GARD:0022526,GARD:0022526,GARD:0021870,Rare odontologic disease +GARD:0021370,GARD:0022526,GARD:0022526,GARD:0005747,Rare odontologic disease +GARD:0021371,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0021371,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0021372,GARD:0022514,GARD:0019363,,Rare gynecologic or obstetric disease +GARD:0021372,GARD:0022535,GARD:0019363,,Rare neoplastic disease +GARD:0021373,GARD:0022535,GARD:0019363,,Rare neoplastic disease +GARD:0021373,GARD:0022514,GARD:0019363,,Rare gynecologic or obstetric disease +GARD:0021374,GARD:0022514,GARD:0019363,,Rare gynecologic or obstetric disease +GARD:0021374,GARD:0022535,GARD:0019363,,Rare neoplastic disease +GARD:0021375,GARD:0022514,GARD:0019363,,Rare gynecologic or obstetric disease +GARD:0021375,GARD:0022535,GARD:0019363,,Rare neoplastic disease +GARD:0021376,GARD:0022535,GARD:0019363,,Rare neoplastic disease +GARD:0021376,GARD:0022514,GARD:0019363,,Rare gynecologic or obstetric disease +GARD:0021377,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0021378,GARD:0022524,GARD:0021960,,Rare neurologic disease +GARD:0021378,GARD:0022531,GARD:0021960,,Rare genetic disease +GARD:0021378,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0021378,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0021379,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021379,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021379,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021380,GARD:0022536,GARD:0019706,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021380,GARD:0022535,GARD:0019706,,Rare neoplastic disease +GARD:0021381,GARD:0022524,GARD:0020978,,Rare neurologic disease +GARD:0021381,GARD:0022521,GARD:0020218,,Rare endocrine disease +GARD:0021381,GARD:0022531,GARD:0020978,,Rare genetic disease +GARD:0021381,GARD:0022513,GARD:0020978,,Rare developmental defect during embryogenesis +GARD:0021382,GARD:0022536,GARD:0021829,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021382,GARD:0022531,GARD:0006611,,Rare genetic disease +GARD:0021382,GARD:0022525,GARD:0021829,,Rare systemic or rheumatologic disease +GARD:0021383,GARD:0022524,GARD:0017739,,Rare neurologic disease +GARD:0021383,GARD:0022531,GARD:0020825,,Rare genetic disease +GARD:0021383,GARD:0022513,GARD:0020825,,Rare developmental defect during embryogenesis +GARD:0021383,GARD:0022513,GARD:0017739,,Rare developmental defect during embryogenesis +GARD:0021383,GARD:0022531,GARD:0017739,,Rare genetic disease +GARD:0021384,GARD:0022531,GARD:0022209,,Rare genetic disease +GARD:0021384,GARD:0022513,GARD:0022209,,Rare developmental defect during embryogenesis +GARD:0021385,GARD:0022535,GARD:0021064,,Rare neoplastic disease +GARD:0021385,GARD:0022522,GARD:0021064,,Rare hematologic disease +GARD:0021385,GARD:0022536,GARD:0021064,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021386,GARD:0022513,GARD:0007430,,Rare developmental defect during embryogenesis +GARD:0021386,GARD:0022531,GARD:0007430,,Rare genetic disease +GARD:0021386,GARD:0022524,GARD:0007430,,Rare neurologic disease +GARD:0021387,GARD:0022536,GARD:0005797,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021387,GARD:0022524,GARD:0005797,,Rare neurologic disease +GARD:0021387,GARD:0022512,GARD:0005797,,Rare renal disease +GARD:0021387,GARD:0022515,GARD:0005797,,Rare cardiac disease +GARD:0021387,GARD:0022522,GARD:0005797,,Rare hematologic disease +GARD:0021387,GARD:0022535,GARD:0005797,,Rare neoplastic disease +GARD:0021387,GARD:0022525,GARD:0005797,,Rare systemic or rheumatologic disease +GARD:0021388,GARD:0022521,GARD:0006224,GARD:0001119,Rare endocrine disease +GARD:0021388,GARD:0022521,GARD:0006224,GARD:0006995,Rare endocrine disease +GARD:0021388,GARD:0022521,GARD:0006224,GARD:0006902,Rare endocrine disease +GARD:0021388,GARD:0022521,GARD:0006224,GARD:0003829,Rare endocrine disease +GARD:0021388,GARD:0022521,GARD:0006224,GARD:0004259,Rare endocrine disease +GARD:0021389,GARD:0022521,GARD:0019680,GARD:0007170,Rare endocrine disease +GARD:0021389,GARD:0022535,GARD:0019680,GARD:0019157,Rare neoplastic disease +GARD:0021389,GARD:0022535,GARD:0019680,GARD:0016850,Rare neoplastic disease +GARD:0021389,GARD:0022535,GARD:0019680,GARD:0007170,Rare neoplastic disease +GARD:0021389,GARD:0022535,GARD:0019680,GARD:0019158,Rare neoplastic disease +GARD:0021389,GARD:0022521,GARD:0019680,GARD:0019158,Rare endocrine disease +GARD:0021389,GARD:0022535,GARD:0019680,GARD:0004508,Rare neoplastic disease +GARD:0021389,GARD:0022521,GARD:0019680,GARD:0019157,Rare endocrine disease +GARD:0021389,GARD:0022521,GARD:0019680,GARD:0012867,Rare endocrine disease +GARD:0021389,GARD:0022521,GARD:0019680,GARD:0004508,Rare endocrine disease +GARD:0021389,GARD:0022535,GARD:0019680,GARD:0021390,Rare neoplastic disease +GARD:0021389,GARD:0022535,GARD:0019680,GARD:0012867,Rare neoplastic disease +GARD:0021389,GARD:0022521,GARD:0019680,GARD:0021390,Rare endocrine disease +GARD:0021389,GARD:0022521,GARD:0019680,GARD:0016850,Rare endocrine disease +GARD:0021390,GARD:0022535,GARD:0021389,GARD:0021391,Rare neoplastic disease +GARD:0021390,GARD:0022521,GARD:0021389,GARD:0021391,Rare endocrine disease +GARD:0021391,GARD:0022535,GARD:0021390,,Rare neoplastic disease +GARD:0021391,GARD:0022521,GARD:0021390,,Rare endocrine disease +GARD:0021392,GARD:0022535,GARD:0019159,,Rare neoplastic disease +GARD:0021392,GARD:0022521,GARD:0019159,,Rare endocrine disease +GARD:0021393,GARD:0022521,GARD:0019159,,Rare endocrine disease +GARD:0021393,GARD:0022535,GARD:0019159,,Rare neoplastic disease +GARD:0021394,GARD:0022512,GARD:0016644,,Rare renal disease +GARD:0021394,GARD:0022531,GARD:0016644,,Rare genetic disease +GARD:0021395,GARD:0022522,GARD:0002804,,Rare hematologic disease +GARD:0021395,GARD:0022515,GARD:0002804,,Rare cardiac disease +GARD:0021395,GARD:0022536,GARD:0002804,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021395,GARD:0022535,GARD:0002804,,Rare neoplastic disease +GARD:0021396,GARD:0022515,GARD:0002804,GARD:0021397,Rare cardiac disease +GARD:0021396,GARD:0022535,GARD:0002804,GARD:0021397,Rare neoplastic disease +GARD:0021396,GARD:0022536,GARD:0002804,GARD:0021397,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021396,GARD:0022522,GARD:0002804,GARD:0021397,Rare hematologic disease +GARD:0021397,GARD:0022515,GARD:0021396,,Rare cardiac disease +GARD:0021397,GARD:0022536,GARD:0021396,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021397,GARD:0022522,GARD:0021396,,Rare hematologic disease +GARD:0021397,GARD:0022535,GARD:0021396,,Rare neoplastic disease +GARD:0021398,GARD:0022514,GARD:0012665,,Rare gynecologic or obstetric disease +GARD:0021398,GARD:0022529,GARD:0012665,,Rare infertility +GARD:0021398,GARD:0022531,GARD:0012665,,Rare genetic disease +GARD:0021398,GARD:0022513,GARD:0012665,,Rare developmental defect during embryogenesis +GARD:0021398,GARD:0022521,GARD:0012665,,Rare endocrine disease +GARD:0021398,GARD:0022532,GARD:0012665,,Rare urogenital disease +GARD:0021399,GARD:0022531,GARD:0012665,,Rare genetic disease +GARD:0021399,GARD:0022514,GARD:0012665,,Rare gynecologic or obstetric disease +GARD:0021399,GARD:0022513,GARD:0012665,,Rare developmental defect during embryogenesis +GARD:0021399,GARD:0022532,GARD:0012665,,Rare urogenital disease +GARD:0021399,GARD:0022521,GARD:0012665,,Rare endocrine disease +GARD:0021399,GARD:0022529,GARD:0012665,,Rare infertility +GARD:0021400,GARD:0022510,GARD:0022510,GARD:0006225,Rare skin disease +GARD:0021400,GARD:0022510,GARD:0022510,GARD:0006481,Rare skin disease +GARD:0021400,GARD:0022510,GARD:0022510,GARD:0019028,Rare skin disease +GARD:0021401,GARD:0022531,GARD:0020286,GARD:0021402,Rare genetic disease +GARD:0021401,GARD:0022531,GARD:0020286,GARD:0012681,Rare genetic disease +GARD:0021401,GARD:0022524,GARD:0020286,GARD:0021403,Rare neurologic disease +GARD:0021401,GARD:0022524,GARD:0020286,GARD:0021402,Rare neurologic disease +GARD:0021401,GARD:0022524,GARD:0020286,GARD:0012681,Rare neurologic disease +GARD:0021401,GARD:0022531,GARD:0020286,GARD:0021403,Rare genetic disease +GARD:0021402,GARD:0022531,GARD:0021401,GARD:0016560,Rare genetic disease +GARD:0021402,GARD:0022524,GARD:0021401,GARD:0017206,Rare neurologic disease +GARD:0021402,GARD:0022524,GARD:0021401,GARD:0016560,Rare neurologic disease +GARD:0021402,GARD:0022531,GARD:0021401,GARD:0017206,Rare genetic disease +GARD:0021403,GARD:0022531,GARD:0021401,GARD:0022247,Rare genetic disease +GARD:0021403,GARD:0022524,GARD:0021401,GARD:0003795,Rare neurologic disease +GARD:0021403,GARD:0022531,GARD:0021401,GARD:0017425,Rare genetic disease +GARD:0021403,GARD:0022531,GARD:0021401,GARD:0003795,Rare genetic disease +GARD:0021403,GARD:0022524,GARD:0021401,GARD:0022247,Rare neurologic disease +GARD:0021403,GARD:0022524,GARD:0021401,GARD:0017425,Rare neurologic disease +GARD:0021403,GARD:0022524,GARD:0021401,GARD:0004910,Rare neurologic disease +GARD:0021403,GARD:0022531,GARD:0021401,GARD:0017409,Rare genetic disease +GARD:0021403,GARD:0022531,GARD:0021401,GARD:0010992,Rare genetic disease +GARD:0021403,GARD:0022524,GARD:0021401,GARD:0010992,Rare neurologic disease +GARD:0021403,GARD:0022524,GARD:0021401,GARD:0017964,Rare neurologic disease +GARD:0021403,GARD:0022531,GARD:0021401,GARD:0017964,Rare genetic disease +GARD:0021403,GARD:0022524,GARD:0021401,GARD:0017409,Rare neurologic disease +GARD:0021403,GARD:0022531,GARD:0021401,GARD:0004910,Rare genetic disease +GARD:0021404,GARD:0022531,GARD:0021115,GARD:0017414,Rare genetic disease +GARD:0021404,GARD:0022513,GARD:0021115,GARD:0021078,Rare developmental defect during embryogenesis +GARD:0021404,GARD:0022531,GARD:0021115,GARD:0021078,Rare genetic disease +GARD:0021404,GARD:0022513,GARD:0021115,GARD:0017414,Rare developmental defect during embryogenesis +GARD:0021405,GARD:0022531,GARD:0007628,GARD:0017051,Rare genetic disease +GARD:0021405,GARD:0022536,GARD:0007628,GARD:0017144,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021405,GARD:0022536,GARD:0007628,GARD:0017938,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021405,GARD:0022523,GARD:0007628,GARD:0016632,Rare immune disease +GARD:0021405,GARD:0022531,GARD:0007628,GARD:0016632,Rare genetic disease +GARD:0021405,GARD:0022523,GARD:0007628,GARD:0017938,Rare immune disease +GARD:0021405,GARD:0022523,GARD:0007628,GARD:0017051,Rare immune disease +GARD:0021405,GARD:0022536,GARD:0007628,GARD:0017052,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021405,GARD:0022531,GARD:0007628,GARD:0017053,Rare genetic disease +GARD:0021405,GARD:0022531,GARD:0007628,GARD:0017144,Rare genetic disease +GARD:0021405,GARD:0022536,GARD:0007628,GARD:0016947,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021405,GARD:0022531,GARD:0007628,GARD:0017052,Rare genetic disease +GARD:0021405,GARD:0022523,GARD:0007628,GARD:0005618,Rare immune disease +GARD:0021405,GARD:0022536,GARD:0007628,GARD:0005618,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021405,GARD:0022536,GARD:0007628,GARD:0016632,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021405,GARD:0022531,GARD:0007628,GARD:0005618,Rare genetic disease +GARD:0021405,GARD:0022523,GARD:0007628,GARD:0017053,Rare immune disease +GARD:0021405,GARD:0022523,GARD:0007628,GARD:0017144,Rare immune disease +GARD:0021405,GARD:0022531,GARD:0007628,GARD:0017938,Rare genetic disease +GARD:0021405,GARD:0022536,GARD:0007628,GARD:0017051,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021405,GARD:0022531,GARD:0007628,GARD:0016947,Rare genetic disease +GARD:0021405,GARD:0022523,GARD:0007628,GARD:0016947,Rare immune disease +GARD:0021405,GARD:0022523,GARD:0007628,GARD:0017052,Rare immune disease +GARD:0021405,GARD:0022536,GARD:0007628,GARD:0017053,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021406,GARD:0022536,GARD:0007628,GARD:0005748,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021406,GARD:0022523,GARD:0007628,GARD:0017288,Rare immune disease +GARD:0021406,GARD:0022536,GARD:0007628,GARD:0009987,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021406,GARD:0022531,GARD:0007628,GARD:0008625,Rare genetic disease +GARD:0021406,GARD:0022536,GARD:0007628,GARD:0010339,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021406,GARD:0022531,GARD:0007628,GARD:0017441,Rare genetic disease +GARD:0021406,GARD:0022531,GARD:0007628,GARD:0005748,Rare genetic disease +GARD:0021406,GARD:0022536,GARD:0007628,GARD:0002988,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021406,GARD:0022523,GARD:0007628,GARD:0010339,Rare immune disease +GARD:0021406,GARD:0022531,GARD:0007628,GARD:0017288,Rare genetic disease +GARD:0021406,GARD:0022536,GARD:0007628,GARD:0017288,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021406,GARD:0022523,GARD:0007628,GARD:0017441,Rare immune disease +GARD:0021406,GARD:0022523,GARD:0007628,GARD:0009987,Rare immune disease +GARD:0021406,GARD:0022523,GARD:0007628,GARD:0008625,Rare immune disease +GARD:0021406,GARD:0022523,GARD:0007628,GARD:0002988,Rare immune disease +GARD:0021406,GARD:0022536,GARD:0007628,GARD:0008625,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021406,GARD:0022531,GARD:0007628,GARD:0009987,Rare genetic disease +GARD:0021406,GARD:0022531,GARD:0007628,GARD:0010339,Rare genetic disease +GARD:0021406,GARD:0022531,GARD:0007628,GARD:0002988,Rare genetic disease +GARD:0021406,GARD:0022536,GARD:0007628,GARD:0017441,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021406,GARD:0022523,GARD:0007628,GARD:0005748,Rare immune disease +GARD:0021407,GARD:0022531,GARD:0021004,,Rare genetic disease +GARD:0021407,GARD:0022524,GARD:0020338,,Rare neurologic disease +GARD:0021407,GARD:0022513,GARD:0020338,,Rare developmental defect during embryogenesis +GARD:0021408,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0021408,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0021408,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0021408,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0021408,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0021408,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0021409,GARD:0022521,GARD:0019257,,Rare endocrine disease +GARD:0021410,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0021411,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0021412,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0021413,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0021414,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0021415,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0021416,GARD:0022509,GARD:0005494,,Rare infectious disease +GARD:0021417,GARD:0022536,GARD:0009574,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021417,GARD:0022535,GARD:0009574,,Rare neoplastic disease +GARD:0021417,GARD:0022512,GARD:0009574,,Rare renal disease +GARD:0021418,GARD:0022536,GARD:0013215,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021418,GARD:0022512,GARD:0013215,,Rare renal disease +GARD:0021418,GARD:0022535,GARD:0013215,,Rare neoplastic disease +GARD:0021419,GARD:0022536,GARD:0013215,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021419,GARD:0022535,GARD:0013215,,Rare neoplastic disease +GARD:0021419,GARD:0022512,GARD:0013215,,Rare renal disease +GARD:0021420,GARD:0022535,GARD:0019921,GARD:0003343,Rare neoplastic disease +GARD:0021420,GARD:0022535,GARD:0019921,GARD:0010829,Rare neoplastic disease +GARD:0021420,GARD:0022512,GARD:0022512,GARD:0009571,Rare renal disease +GARD:0021420,GARD:0022512,GARD:0022512,GARD:0002322,Rare renal disease +GARD:0021420,GARD:0022535,GARD:0019921,GARD:0007855,Rare neoplastic disease +GARD:0021420,GARD:0022512,GARD:0022512,GARD:0013157,Rare renal disease +GARD:0021420,GARD:0022531,GARD:0019921,GARD:0009571,Rare genetic disease +GARD:0021420,GARD:0022512,GARD:0022512,GARD:0005528,Rare renal disease +GARD:0021420,GARD:0022535,GARD:0019921,GARD:0010096,Rare neoplastic disease +GARD:0021420,GARD:0022531,GARD:0019921,GARD:0005528,Rare genetic disease +GARD:0021420,GARD:0022531,GARD:0019921,GARD:0003343,Rare genetic disease +GARD:0021420,GARD:0022535,GARD:0019921,GARD:0017676,Rare neoplastic disease +GARD:0021420,GARD:0022531,GARD:0019921,GARD:0002322,Rare genetic disease +GARD:0021420,GARD:0022531,GARD:0019921,GARD:0007855,Rare genetic disease +GARD:0021420,GARD:0022531,GARD:0019921,GARD:0003936,Rare genetic disease +GARD:0021420,GARD:0022535,GARD:0019921,GARD:0003936,Rare neoplastic disease +GARD:0021420,GARD:0022512,GARD:0022512,GARD:0003936,Rare renal disease +GARD:0021420,GARD:0022531,GARD:0019921,GARD:0016853,Rare genetic disease +GARD:0021420,GARD:0022535,GARD:0019921,GARD:0005528,Rare neoplastic disease +GARD:0021420,GARD:0022512,GARD:0022512,GARD:0010096,Rare renal disease +GARD:0021420,GARD:0022535,GARD:0019921,GARD:0013157,Rare neoplastic disease +GARD:0021420,GARD:0022531,GARD:0019921,GARD:0010096,Rare genetic disease +GARD:0021420,GARD:0022535,GARD:0019921,GARD:0009571,Rare neoplastic disease +GARD:0021420,GARD:0022512,GARD:0022512,GARD:0007855,Rare renal disease +GARD:0021420,GARD:0022531,GARD:0019921,GARD:0010829,Rare genetic disease +GARD:0021420,GARD:0022531,GARD:0019921,GARD:0013157,Rare genetic disease +GARD:0021420,GARD:0022512,GARD:0022512,GARD:0016853,Rare renal disease +GARD:0021420,GARD:0022512,GARD:0022512,GARD:0003343,Rare renal disease +GARD:0021420,GARD:0022512,GARD:0022512,GARD:0010829,Rare renal disease +GARD:0021420,GARD:0022512,GARD:0022512,GARD:0007830,Rare renal disease +GARD:0021420,GARD:0022512,GARD:0022512,GARD:0017676,Rare renal disease +GARD:0021420,GARD:0022531,GARD:0019921,GARD:0007830,Rare genetic disease +GARD:0021420,GARD:0022535,GARD:0019921,GARD:0007830,Rare neoplastic disease +GARD:0021420,GARD:0022531,GARD:0019921,GARD:0017676,Rare genetic disease +GARD:0021420,GARD:0022535,GARD:0019921,GARD:0017449,Rare neoplastic disease +GARD:0021420,GARD:0022531,GARD:0019921,GARD:0017449,Rare genetic disease +GARD:0021420,GARD:0022512,GARD:0022512,GARD:0017449,Rare renal disease +GARD:0021420,GARD:0022535,GARD:0019921,GARD:0002322,Rare neoplastic disease +GARD:0021420,GARD:0022535,GARD:0019921,GARD:0016853,Rare neoplastic disease +GARD:0021421,GARD:0022521,GARD:0019763,GARD:0016853,Rare endocrine disease +GARD:0021421,GARD:0022535,GARD:0019763,GARD:0008488,Rare neoplastic disease +GARD:0021421,GARD:0022531,GARD:0021015,GARD:0008488,Rare genetic disease +GARD:0021421,GARD:0022531,GARD:0021015,GARD:0016853,Rare genetic disease +GARD:0021421,GARD:0022521,GARD:0019763,GARD:0008488,Rare endocrine disease +GARD:0021421,GARD:0022535,GARD:0019763,GARD:0016853,Rare neoplastic disease +GARD:0021422,GARD:0022523,GARD:0012977,GARD:0017458,Rare immune disease +GARD:0021422,GARD:0022523,GARD:0012977,GARD:0017457,Rare immune disease +GARD:0021422,GARD:0022531,GARD:0012977,GARD:0017458,Rare genetic disease +GARD:0021422,GARD:0022523,GARD:0012977,GARD:0009185,Rare immune disease +GARD:0021422,GARD:0022523,GARD:0012977,GARD:0017861,Rare immune disease +GARD:0021422,GARD:0022523,GARD:0012977,GARD:0012976,Rare immune disease +GARD:0021422,GARD:0022531,GARD:0012977,GARD:0009185,Rare genetic disease +GARD:0021422,GARD:0022531,GARD:0012977,GARD:0017861,Rare genetic disease +GARD:0021422,GARD:0022531,GARD:0012977,GARD:0017457,Rare genetic disease +GARD:0021422,GARD:0022523,GARD:0012977,GARD:0010984,Rare immune disease +GARD:0021422,GARD:0022531,GARD:0012977,GARD:0010984,Rare genetic disease +GARD:0021422,GARD:0022531,GARD:0012977,GARD:0012976,Rare genetic disease +GARD:0021423,GARD:0022523,GARD:0012977,GARD:0017514,Rare immune disease +GARD:0021423,GARD:0022531,GARD:0012977,GARD:0022319,Rare genetic disease +GARD:0021423,GARD:0022523,GARD:0012977,GARD:0022319,Rare immune disease +GARD:0021423,GARD:0022523,GARD:0012977,GARD:0017460,Rare immune disease +GARD:0021423,GARD:0022523,GARD:0012977,GARD:0017459,Rare immune disease +GARD:0021423,GARD:0022531,GARD:0012977,GARD:0017459,Rare genetic disease +GARD:0021423,GARD:0022531,GARD:0012977,GARD:0017460,Rare genetic disease +GARD:0021423,GARD:0022531,GARD:0012977,GARD:0017514,Rare genetic disease +GARD:0021424,GARD:0022523,GARD:0012977,GARD:0017462,Rare immune disease +GARD:0021424,GARD:0022523,GARD:0012977,GARD:0017463,Rare immune disease +GARD:0021424,GARD:0022523,GARD:0012977,GARD:0017461,Rare immune disease +GARD:0021424,GARD:0022531,GARD:0012977,GARD:0017461,Rare genetic disease +GARD:0021424,GARD:0022531,GARD:0012977,GARD:0017462,Rare genetic disease +GARD:0021424,GARD:0022531,GARD:0012977,GARD:0017463,Rare genetic disease +GARD:0021424,GARD:0022523,GARD:0012977,GARD:0021425,Rare immune disease +GARD:0021424,GARD:0022531,GARD:0012977,GARD:0021425,Rare genetic disease +GARD:0021425,GARD:0022531,GARD:0021424,,Rare genetic disease +GARD:0021425,GARD:0022523,GARD:0021424,,Rare immune disease +GARD:0021426,GARD:0022535,GARD:0021064,,Rare neoplastic disease +GARD:0021426,GARD:0022522,GARD:0021064,,Rare hematologic disease +GARD:0021426,GARD:0022536,GARD:0021064,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021427,GARD:0021079,GARD:0021997,GARD:0021986,Rare systemic or rheumatological disease of childhood +GARD:0021427,GARD:0021079,GARD:0021997,GARD:0000521,Rare systemic or rheumatological disease of childhood +GARD:0021427,GARD:0021079,GARD:0021997,GARD:0021459,Rare systemic or rheumatological disease of childhood +GARD:0021427,GARD:0021079,GARD:0021997,GARD:0021458,Rare systemic or rheumatological disease of childhood +GARD:0021427,GARD:0021079,GARD:0021997,GARD:0021460,Rare systemic or rheumatological disease of childhood +GARD:0021427,GARD:0021079,GARD:0021997,GARD:0021456,Rare systemic or rheumatological disease of childhood +GARD:0021427,GARD:0021079,GARD:0021997,GARD:0021461,Rare systemic or rheumatological disease of childhood +GARD:0021428,GARD:0022524,GARD:0019822,GARD:0017063,Rare neurologic disease +GARD:0021428,GARD:0022531,GARD:0019822,GARD:0017063,Rare genetic disease +GARD:0021429,GARD:0022524,GARD:0006637,GARD:0021432,Rare neurologic disease +GARD:0021429,GARD:0022524,GARD:0006637,GARD:0021430,Rare neurologic disease +GARD:0021429,GARD:0022524,GARD:0006637,GARD:0021431,Rare neurologic disease +GARD:0021429,GARD:0022531,GARD:0006637,GARD:0021431,Rare genetic disease +GARD:0021429,GARD:0022531,GARD:0006637,GARD:0021432,Rare genetic disease +GARD:0021429,GARD:0022531,GARD:0006637,GARD:0021430,Rare genetic disease +GARD:0021430,GARD:0022524,GARD:0021429,GARD:0009616,Rare neurologic disease +GARD:0021430,GARD:0022524,GARD:0021429,GARD:0004928,Rare neurologic disease +GARD:0021430,GARD:0022531,GARD:0021429,GARD:0021866,Rare genetic disease +GARD:0021430,GARD:0022524,GARD:0021429,GARD:0009591,Rare neurologic disease +GARD:0021430,GARD:0022524,GARD:0021429,GARD:0005041,Rare neurologic disease +GARD:0021430,GARD:0022531,GARD:0021429,GARD:0004928,Rare genetic disease +GARD:0021430,GARD:0022531,GARD:0021429,GARD:0004927,Rare genetic disease +GARD:0021430,GARD:0022524,GARD:0021429,GARD:0016942,Rare neurologic disease +GARD:0021430,GARD:0022531,GARD:0021429,GARD:0009590,Rare genetic disease +GARD:0021430,GARD:0022531,GARD:0021429,GARD:0009616,Rare genetic disease +GARD:0021430,GARD:0022531,GARD:0021429,GARD:0009591,Rare genetic disease +GARD:0021430,GARD:0022524,GARD:0021429,GARD:0004925,Rare neurologic disease +GARD:0021430,GARD:0022531,GARD:0021429,GARD:0004925,Rare genetic disease +GARD:0021430,GARD:0022524,GARD:0021429,GARD:0009590,Rare neurologic disease +GARD:0021430,GARD:0022531,GARD:0021429,GARD:0005041,Rare genetic disease +GARD:0021430,GARD:0022524,GARD:0021429,GARD:0021866,Rare neurologic disease +GARD:0021430,GARD:0022531,GARD:0021429,GARD:0016942,Rare genetic disease +GARD:0021430,GARD:0022524,GARD:0021429,GARD:0017378,Rare neurologic disease +GARD:0021430,GARD:0022524,GARD:0021429,GARD:0004927,Rare neurologic disease +GARD:0021430,GARD:0022531,GARD:0021429,GARD:0010817,Rare genetic disease +GARD:0021430,GARD:0022531,GARD:0021429,GARD:0017378,Rare genetic disease +GARD:0021430,GARD:0022524,GARD:0021429,GARD:0010817,Rare neurologic disease +GARD:0021431,GARD:0022531,GARD:0021429,GARD:0016940,Rare genetic disease +GARD:0021431,GARD:0022524,GARD:0021429,GARD:0017827,Rare neurologic disease +GARD:0021431,GARD:0022524,GARD:0021429,GARD:0009589,Rare neurologic disease +GARD:0021431,GARD:0022524,GARD:0021429,GARD:0016942,Rare neurologic disease +GARD:0021431,GARD:0022531,GARD:0021429,GARD:0016598,Rare genetic disease +GARD:0021431,GARD:0022524,GARD:0021429,GARD:0017480,Rare neurologic disease +GARD:0021431,GARD:0022531,GARD:0021429,GARD:0017477,Rare genetic disease +GARD:0021431,GARD:0022524,GARD:0021429,GARD:0004919,Rare neurologic disease +GARD:0021431,GARD:0022531,GARD:0021429,GARD:0016942,Rare genetic disease +GARD:0021431,GARD:0022524,GARD:0021429,GARD:0004926,Rare neurologic disease +GARD:0021431,GARD:0022524,GARD:0021429,GARD:0017378,Rare neurologic disease +GARD:0021431,GARD:0022531,GARD:0021429,GARD:0017480,Rare genetic disease +GARD:0021431,GARD:0022531,GARD:0021429,GARD:0004926,Rare genetic disease +GARD:0021431,GARD:0022531,GARD:0021429,GARD:0017827,Rare genetic disease +GARD:0021431,GARD:0022531,GARD:0021429,GARD:0004927,Rare genetic disease +GARD:0021431,GARD:0022531,GARD:0021429,GARD:0009589,Rare genetic disease +GARD:0021431,GARD:0022524,GARD:0021429,GARD:0016598,Rare neurologic disease +GARD:0021431,GARD:0022524,GARD:0021429,GARD:0016940,Rare neurologic disease +GARD:0021431,GARD:0022524,GARD:0021429,GARD:0017477,Rare neurologic disease +GARD:0021431,GARD:0022531,GARD:0021429,GARD:0017378,Rare genetic disease +GARD:0021431,GARD:0022524,GARD:0021429,GARD:0004927,Rare neurologic disease +GARD:0021431,GARD:0022531,GARD:0021429,GARD:0004919,Rare genetic disease +GARD:0021432,GARD:0022531,GARD:0021429,GARD:0005617,Rare genetic disease +GARD:0021432,GARD:0022531,GARD:0021429,GARD:0009585,Rare genetic disease +GARD:0021432,GARD:0022531,GARD:0021429,GARD:0004923,Rare genetic disease +GARD:0021432,GARD:0022524,GARD:0021429,GARD:0009585,Rare neurologic disease +GARD:0021432,GARD:0022524,GARD:0021429,GARD:0004923,Rare neurologic disease +GARD:0021432,GARD:0022524,GARD:0021429,GARD:0005617,Rare neurologic disease +GARD:0021433,GARD:0022531,GARD:0019823,,Rare genetic disease +GARD:0021433,GARD:0022524,GARD:0019823,,Rare neurologic disease +GARD:0021434,GARD:0022531,GARD:0018875,GARD:0017450,Rare genetic disease +GARD:0021434,GARD:0022531,GARD:0018875,GARD:0017451,Rare genetic disease +GARD:0021435,GARD:0022521,GARD:0022315,,Rare endocrine disease +GARD:0021435,GARD:0022531,GARD:0020316,,Rare genetic disease +GARD:0021435,GARD:0022522,GARD:0019466,,Rare hematologic disease +GARD:0021435,GARD:0022535,GARD:0022315,,Rare neoplastic disease +GARD:0021435,GARD:0022531,GARD:0021015,,Rare genetic disease +GARD:0021435,GARD:0022531,GARD:0020682,,Rare genetic disease +GARD:0021436,GARD:0022531,GARD:0019196,,Rare genetic disease +GARD:0021436,GARD:0022511,GARD:0019196,,Rare bone disease +GARD:0021436,GARD:0022513,GARD:0019196,,Rare developmental defect during embryogenesis +GARD:0021437,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021437,GARD:0022513,GARD:0020813,,Rare developmental defect during embryogenesis +GARD:0021437,GARD:0022531,GARD:0020813,,Rare genetic disease +GARD:0021437,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021437,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021438,GARD:0022524,GARD:0019482,,Rare neurologic disease +GARD:0021438,GARD:0022513,GARD:0019482,,Rare developmental defect during embryogenesis +GARD:0021438,GARD:0022531,GARD:0019482,,Rare genetic disease +GARD:0021439,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0021439,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0021439,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0021440,GARD:0022524,GARD:0020364,,Rare neurologic disease +GARD:0021440,GARD:0022531,GARD:0020364,,Rare genetic disease +GARD:0021441,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021441,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021441,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021442,GARD:0022508,GARD:0020756,,Rare inborn errors of metabolism +GARD:0021442,GARD:0022531,GARD:0020521,,Rare genetic disease +GARD:0021442,GARD:0022536,GARD:0020521,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021442,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0021442,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0021442,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0021442,GARD:0022515,GARD:0020521,,Rare cardiac disease +GARD:0021442,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0021442,GARD:0022531,GARD:0020756,,Rare genetic disease +GARD:0021443,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021443,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021443,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021444,GARD:0022513,GARD:0020067,,Rare developmental defect during embryogenesis +GARD:0021444,GARD:0022531,GARD:0020067,,Rare genetic disease +GARD:0021444,GARD:0022521,GARD:0020067,,Rare endocrine disease +GARD:0021445,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0021445,GARD:0022524,GARD:0019567,,Rare neurologic disease +GARD:0021445,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0021445,GARD:0022531,GARD:0019567,,Rare genetic disease +GARD:0021446,GARD:0022524,GARD:0012436,,Rare neurologic disease +GARD:0021446,GARD:0022531,GARD:0012436,,Rare genetic disease +GARD:0021447,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0021447,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0021448,GARD:0022509,GARD:0019433,,Rare infectious disease +GARD:0021448,GARD:0022524,GARD:0019433,,Rare neurologic disease +GARD:0021449,GARD:0022509,GARD:0018704,,Rare infectious disease +GARD:0021450,GARD:0022531,GARD:0022441,GARD:0008562,Rare genetic disease +GARD:0021450,GARD:0022513,GARD:0019832,GARD:0017468,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022524,GARD:0021000,GARD:0005120,Rare neurologic disease +GARD:0021450,GARD:0022524,GARD:0019832,GARD:0008562,Rare neurologic disease +GARD:0021450,GARD:0022531,GARD:0022441,GARD:0005120,Rare genetic disease +GARD:0021450,GARD:0022513,GARD:0021000,GARD:0017498,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022524,GARD:0021000,GARD:0009844,Rare neurologic disease +GARD:0021450,GARD:0022531,GARD:0021000,GARD:0008562,Rare genetic disease +GARD:0021450,GARD:0022531,GARD:0021000,GARD:0009844,Rare genetic disease +GARD:0021450,GARD:0022513,GARD:0019832,GARD:0003602,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022531,GARD:0021000,GARD:0016736,Rare genetic disease +GARD:0021450,GARD:0022531,GARD:0021000,GARD:0003602,Rare genetic disease +GARD:0021450,GARD:0022531,GARD:0021000,GARD:0017469,Rare genetic disease +GARD:0021450,GARD:0022513,GARD:0021000,GARD:0016736,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022531,GARD:0022441,GARD:0009844,Rare genetic disease +GARD:0021450,GARD:0022524,GARD:0019832,GARD:0003602,Rare neurologic disease +GARD:0021450,GARD:0022524,GARD:0021000,GARD:0022314,Rare neurologic disease +GARD:0021450,GARD:0022531,GARD:0022441,GARD:0017498,Rare genetic disease +GARD:0021450,GARD:0022524,GARD:0021000,GARD:0017468,Rare neurologic disease +GARD:0021450,GARD:0022513,GARD:0021000,GARD:0005120,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022513,GARD:0021000,GARD:0017841,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022531,GARD:0021000,GARD:0017468,Rare genetic disease +GARD:0021450,GARD:0022531,GARD:0022441,GARD:0016736,Rare genetic disease +GARD:0021450,GARD:0022524,GARD:0019832,GARD:0017468,Rare neurologic disease +GARD:0021450,GARD:0022513,GARD:0021000,GARD:0017469,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022531,GARD:0021000,GARD:0005120,Rare genetic disease +GARD:0021450,GARD:0022524,GARD:0021000,GARD:0008562,Rare neurologic disease +GARD:0021450,GARD:0022513,GARD:0019832,GARD:0017498,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022513,GARD:0021000,GARD:0017468,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022513,GARD:0021000,GARD:0008562,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022531,GARD:0021000,GARD:0017498,Rare genetic disease +GARD:0021450,GARD:0022513,GARD:0021000,GARD:0003602,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022524,GARD:0021000,GARD:0017498,Rare neurologic disease +GARD:0021450,GARD:0022524,GARD:0019832,GARD:0017498,Rare neurologic disease +GARD:0021450,GARD:0022524,GARD:0019832,GARD:0002033,Rare neurologic disease +GARD:0021450,GARD:0022524,GARD:0019832,GARD:0016736,Rare neurologic disease +GARD:0021450,GARD:0022524,GARD:0019832,GARD:0009844,Rare neurologic disease +GARD:0021450,GARD:0022531,GARD:0021000,GARD:0002033,Rare genetic disease +GARD:0021450,GARD:0022513,GARD:0019832,GARD:0022314,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022513,GARD:0019832,GARD:0017469,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022524,GARD:0021000,GARD:0016736,Rare neurologic disease +GARD:0021450,GARD:0022524,GARD:0021000,GARD:0017841,Rare neurologic disease +GARD:0021450,GARD:0022531,GARD:0022441,GARD:0017469,Rare genetic disease +GARD:0021450,GARD:0022513,GARD:0019832,GARD:0008562,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022524,GARD:0019832,GARD:0022314,Rare neurologic disease +GARD:0021450,GARD:0022524,GARD:0021000,GARD:0017469,Rare neurologic disease +GARD:0021450,GARD:0022513,GARD:0019832,GARD:0009844,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022531,GARD:0022441,GARD:0003602,Rare genetic disease +GARD:0021450,GARD:0022531,GARD:0021000,GARD:0017841,Rare genetic disease +GARD:0021450,GARD:0022524,GARD:0021000,GARD:0003602,Rare neurologic disease +GARD:0021450,GARD:0022524,GARD:0019832,GARD:0005120,Rare neurologic disease +GARD:0021450,GARD:0022531,GARD:0022441,GARD:0017468,Rare genetic disease +GARD:0021450,GARD:0022513,GARD:0019832,GARD:0016736,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022513,GARD:0021000,GARD:0002033,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022531,GARD:0021000,GARD:0022314,Rare genetic disease +GARD:0021450,GARD:0022531,GARD:0022441,GARD:0022314,Rare genetic disease +GARD:0021450,GARD:0022513,GARD:0019832,GARD:0005120,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022524,GARD:0021000,GARD:0002033,Rare neurologic disease +GARD:0021450,GARD:0022513,GARD:0019832,GARD:0017841,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022513,GARD:0021000,GARD:0022314,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022524,GARD:0019832,GARD:0017469,Rare neurologic disease +GARD:0021450,GARD:0022513,GARD:0019832,GARD:0002033,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022531,GARD:0022441,GARD:0017841,Rare genetic disease +GARD:0021450,GARD:0022513,GARD:0021000,GARD:0009844,Rare developmental defect during embryogenesis +GARD:0021450,GARD:0022524,GARD:0019832,GARD:0017841,Rare neurologic disease +GARD:0021450,GARD:0022531,GARD:0022441,GARD:0002033,Rare genetic disease +GARD:0021451,GARD:0022531,GARD:0019194,GARD:0007801,Rare genetic disease +GARD:0021451,GARD:0022511,GARD:0019194,GARD:0007801,Rare bone disease +GARD:0021451,GARD:0022531,GARD:0006317,GARD:0007801,Rare genetic disease +GARD:0021451,GARD:0022531,GARD:0019194,GARD:0015017,Rare genetic disease +GARD:0021451,GARD:0022511,GARD:0019194,GARD:0015017,Rare bone disease +GARD:0021451,GARD:0022510,GARD:0006317,GARD:0007801,Rare skin disease +GARD:0021451,GARD:0022513,GARD:0006317,GARD:0007801,Rare developmental defect during embryogenesis +GARD:0021451,GARD:0022513,GARD:0019194,GARD:0015017,Rare developmental defect during embryogenesis +GARD:0021451,GARD:0022531,GARD:0006317,GARD:0015017,Rare genetic disease +GARD:0021451,GARD:0022513,GARD:0019194,GARD:0007801,Rare developmental defect during embryogenesis +GARD:0021451,GARD:0022510,GARD:0006317,GARD:0015017,Rare skin disease +GARD:0021451,GARD:0022513,GARD:0006317,GARD:0015017,Rare developmental defect during embryogenesis +GARD:0021452,GARD:0022515,GARD:0020530,GARD:0006111,Rare cardiac disease +GARD:0021452,GARD:0022536,GARD:0022065,GARD:0006111,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021452,GARD:0022515,GARD:0020530,GARD:0002620,Rare cardiac disease +GARD:0021452,GARD:0022536,GARD:0022065,GARD:0002620,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021453,GARD:0022525,GARD:0019812,GARD:0022273,Rare systemic or rheumatologic disease +GARD:0021453,GARD:0021079,GARD:0021458,GARD:0008457,Rare systemic or rheumatological disease of childhood +GARD:0021453,GARD:0022531,GARD:0021018,GARD:0018014,Rare genetic disease +GARD:0021453,GARD:0022531,GARD:0021018,GARD:0017725,Rare genetic disease +GARD:0021453,GARD:0021079,GARD:0021458,GARD:0006421,Rare systemic or rheumatological disease of childhood +GARD:0021453,GARD:0021079,GARD:0021458,GARD:0013198,Rare systemic or rheumatological disease of childhood +GARD:0021453,GARD:0022525,GARD:0019812,GARD:0010927,Rare systemic or rheumatologic disease +GARD:0021453,GARD:0022531,GARD:0021018,GARD:0013198,Rare genetic disease +GARD:0021453,GARD:0022525,GARD:0019812,GARD:0006421,Rare systemic or rheumatologic disease +GARD:0021453,GARD:0022525,GARD:0019812,GARD:0013198,Rare systemic or rheumatologic disease +GARD:0021453,GARD:0022525,GARD:0019812,GARD:0017725,Rare systemic or rheumatologic disease +GARD:0021453,GARD:0022531,GARD:0021018,GARD:0017201,Rare genetic disease +GARD:0021453,GARD:0021079,GARD:0021458,GARD:0017725,Rare systemic or rheumatological disease of childhood +GARD:0021453,GARD:0022531,GARD:0021018,GARD:0008457,Rare genetic disease +GARD:0021453,GARD:0022531,GARD:0021018,GARD:0021315,Rare genetic disease +GARD:0021453,GARD:0022525,GARD:0019812,GARD:0017201,Rare systemic or rheumatologic disease +GARD:0021453,GARD:0022531,GARD:0021018,GARD:0022273,Rare genetic disease +GARD:0021453,GARD:0021079,GARD:0021458,GARD:0018014,Rare systemic or rheumatological disease of childhood +GARD:0021453,GARD:0022525,GARD:0019812,GARD:0021315,Rare systemic or rheumatologic disease +GARD:0021453,GARD:0021079,GARD:0021458,GARD:0022273,Rare systemic or rheumatological disease of childhood +GARD:0021453,GARD:0022525,GARD:0019812,GARD:0018014,Rare systemic or rheumatologic disease +GARD:0021453,GARD:0022531,GARD:0021018,GARD:0006421,Rare genetic disease +GARD:0021453,GARD:0022531,GARD:0021018,GARD:0010927,Rare genetic disease +GARD:0021453,GARD:0021079,GARD:0021458,GARD:0010927,Rare systemic or rheumatological disease of childhood +GARD:0021453,GARD:0021079,GARD:0021458,GARD:0017201,Rare systemic or rheumatological disease of childhood +GARD:0021453,GARD:0021079,GARD:0021458,GARD:0021315,Rare systemic or rheumatological disease of childhood +GARD:0021453,GARD:0022525,GARD:0019812,GARD:0008457,Rare systemic or rheumatologic disease +GARD:0021454,GARD:0022525,GARD:0019234,GARD:0017679,Rare systemic or rheumatologic disease +GARD:0021454,GARD:0022525,GARD:0019234,GARD:0007510,Rare systemic or rheumatologic disease +GARD:0021454,GARD:0022525,GARD:0019234,GARD:0007606,Rare systemic or rheumatologic disease +GARD:0021454,GARD:0022525,GARD:0019234,GARD:0000521,Rare systemic or rheumatologic disease +GARD:0021454,GARD:0022525,GARD:0019234,GARD:0010516,Rare systemic or rheumatologic disease +GARD:0021454,GARD:0022525,GARD:0019234,GARD:0017213,Rare systemic or rheumatologic disease +GARD:0021454,GARD:0022525,GARD:0019234,GARD:0021139,Rare systemic or rheumatologic disease +GARD:0021454,GARD:0022525,GARD:0019234,GARD:0010088,Rare systemic or rheumatologic disease +GARD:0021454,GARD:0022525,GARD:0019234,GARD:0009176,Rare systemic or rheumatologic disease +GARD:0021454,GARD:0022525,GARD:0019234,GARD:0006108,Rare systemic or rheumatologic disease +GARD:0021454,GARD:0022525,GARD:0019234,GARD:0017355,Rare systemic or rheumatologic disease +GARD:0021455,GARD:0022525,GARD:0019234,GARD:0020694,Rare systemic or rheumatologic disease +GARD:0021455,GARD:0022525,GARD:0019234,GARD:0000304,Rare systemic or rheumatologic disease +GARD:0021455,GARD:0022525,GARD:0019234,GARD:0006369,Rare systemic or rheumatologic disease +GARD:0021455,GARD:0022525,GARD:0019234,GARD:0007607,Rare systemic or rheumatologic disease +GARD:0021456,GARD:0022525,GARD:0019234,GARD:0017494,Rare systemic or rheumatologic disease +GARD:0021456,GARD:0022531,GARD:0021018,GARD:0017486,Rare genetic disease +GARD:0021456,GARD:0022525,GARD:0019234,GARD:0017486,Rare systemic or rheumatologic disease +GARD:0021456,GARD:0022531,GARD:0021018,GARD:0017494,Rare genetic disease +GARD:0021456,GARD:0022525,GARD:0019234,GARD:0022465,Rare systemic or rheumatologic disease +GARD:0021456,GARD:0021079,GARD:0021427,GARD:0017486,Rare systemic or rheumatological disease of childhood +GARD:0021456,GARD:0022525,GARD:0019234,GARD:0017369,Rare systemic or rheumatologic disease +GARD:0021456,GARD:0022531,GARD:0021018,GARD:0022465,Rare genetic disease +GARD:0021456,GARD:0021079,GARD:0021427,GARD:0022465,Rare systemic or rheumatological disease of childhood +GARD:0021456,GARD:0022531,GARD:0021018,GARD:0017369,Rare genetic disease +GARD:0021456,GARD:0021079,GARD:0021427,GARD:0017369,Rare systemic or rheumatological disease of childhood +GARD:0021456,GARD:0021079,GARD:0021427,GARD:0017494,Rare systemic or rheumatological disease of childhood +GARD:0021457,GARD:0022525,GARD:0019234,GARD:0017848,Rare systemic or rheumatologic disease +GARD:0021457,GARD:0022525,GARD:0019234,GARD:0013371,Rare systemic or rheumatologic disease +GARD:0021457,GARD:0022525,GARD:0019234,GARD:0015001,Rare systemic or rheumatologic disease +GARD:0021457,GARD:0022525,GARD:0019234,GARD:0020695,Rare systemic or rheumatologic disease +GARD:0021457,GARD:0022525,GARD:0019234,GARD:0006036,Rare systemic or rheumatologic disease +GARD:0021457,GARD:0022525,GARD:0019234,GARD:0000848,Rare systemic or rheumatologic disease +GARD:0021457,GARD:0022525,GARD:0019234,GARD:0022462,Rare systemic or rheumatologic disease +GARD:0021458,GARD:0021079,GARD:0021427,GARD:0021462,Rare systemic or rheumatological disease of childhood +GARD:0021458,GARD:0021079,GARD:0021427,GARD:0021453,Rare systemic or rheumatological disease of childhood +GARD:0021459,GARD:0021079,GARD:0021427,GARD:0010088,Rare systemic or rheumatological disease of childhood +GARD:0021459,GARD:0021079,GARD:0021427,GARD:0010516,Rare systemic or rheumatological disease of childhood +GARD:0021459,GARD:0021079,GARD:0021427,GARD:0017213,Rare systemic or rheumatological disease of childhood +GARD:0021459,GARD:0021079,GARD:0021427,GARD:0017355,Rare systemic or rheumatological disease of childhood +GARD:0021459,GARD:0021079,GARD:0021427,GARD:0017679,Rare systemic or rheumatological disease of childhood +GARD:0021459,GARD:0021079,GARD:0021427,GARD:0009176,Rare systemic or rheumatological disease of childhood +GARD:0021459,GARD:0021079,GARD:0021427,GARD:0006108,Rare systemic or rheumatological disease of childhood +GARD:0021460,GARD:0021079,GARD:0021427,GARD:0000304,Rare systemic or rheumatological disease of childhood +GARD:0021460,GARD:0021079,GARD:0021427,GARD:0020694,Rare systemic or rheumatological disease of childhood +GARD:0021461,GARD:0021079,GARD:0021427,GARD:0017848,Rare systemic or rheumatological disease of childhood +GARD:0021461,GARD:0021079,GARD:0021427,GARD:0006036,Rare systemic or rheumatological disease of childhood +GARD:0021461,GARD:0021079,GARD:0021427,GARD:0012357,Rare systemic or rheumatological disease of childhood +GARD:0021461,GARD:0021079,GARD:0021427,GARD:0000848,Rare systemic or rheumatological disease of childhood +GARD:0021461,GARD:0021079,GARD:0021427,GARD:0020695,Rare systemic or rheumatological disease of childhood +GARD:0021462,GARD:0021079,GARD:0021458,GARD:0005657,Rare systemic or rheumatological disease of childhood +GARD:0021463,GARD:0022521,GARD:0018783,GARD:0005671,Rare endocrine disease +GARD:0021463,GARD:0022513,GARD:0018783,GARD:0016585,Rare developmental defect during embryogenesis +GARD:0021463,GARD:0022531,GARD:0021482,GARD:0017760,Rare genetic disease +GARD:0021463,GARD:0022532,GARD:0018783,GARD:0005671,Rare urogenital disease +GARD:0021463,GARD:0022532,GARD:0018783,GARD:0017760,Rare urogenital disease +GARD:0021463,GARD:0022531,GARD:0021482,GARD:0005671,Rare genetic disease +GARD:0021463,GARD:0022521,GARD:0018783,GARD:0000399,Rare endocrine disease +GARD:0021463,GARD:0022532,GARD:0018783,GARD:0000399,Rare urogenital disease +GARD:0021463,GARD:0022532,GARD:0018783,GARD:0016585,Rare urogenital disease +GARD:0021463,GARD:0022521,GARD:0018783,GARD:0016585,Rare endocrine disease +GARD:0021463,GARD:0022513,GARD:0018783,GARD:0000399,Rare developmental defect during embryogenesis +GARD:0021463,GARD:0022513,GARD:0018783,GARD:0005671,Rare developmental defect during embryogenesis +GARD:0021463,GARD:0022513,GARD:0018783,GARD:0017760,Rare developmental defect during embryogenesis +GARD:0021463,GARD:0022521,GARD:0018783,GARD:0017760,Rare endocrine disease +GARD:0021463,GARD:0022531,GARD:0021482,GARD:0016585,Rare genetic disease +GARD:0021463,GARD:0022531,GARD:0021482,GARD:0000399,Rare genetic disease +GARD:0021464,GARD:0022521,GARD:0019409,GARD:0000365,Rare endocrine disease +GARD:0021464,GARD:0022514,GARD:0019409,GARD:0000365,Rare gynecologic or obstetric disease +GARD:0021464,GARD:0022513,GARD:0019409,GARD:0000365,Rare developmental defect during embryogenesis +GARD:0021464,GARD:0022531,GARD:0021480,GARD:0000365,Rare genetic disease +GARD:0021464,GARD:0022531,GARD:0021482,GARD:0000365,Rare genetic disease +GARD:0021464,GARD:0022532,GARD:0019409,GARD:0000365,Rare urogenital disease +GARD:0021465,GARD:0022514,GARD:0019156,,Rare gynecologic or obstetric disease +GARD:0021465,GARD:0022532,GARD:0019156,,Rare urogenital disease +GARD:0021465,GARD:0022521,GARD:0019156,,Rare endocrine disease +GARD:0021465,GARD:0022513,GARD:0019156,,Rare developmental defect during embryogenesis +GARD:0021466,GARD:0022521,GARD:0019156,,Rare endocrine disease +GARD:0021466,GARD:0022514,GARD:0019156,,Rare gynecologic or obstetric disease +GARD:0021466,GARD:0022532,GARD:0019156,,Rare urogenital disease +GARD:0021466,GARD:0022513,GARD:0019156,,Rare developmental defect during embryogenesis +GARD:0021467,GARD:0022532,GARD:0018783,GARD:0010302,Rare urogenital disease +GARD:0021467,GARD:0022531,GARD:0021482,GARD:0017195,Rare genetic disease +GARD:0021467,GARD:0022513,GARD:0018783,GARD:0018782,Rare developmental defect during embryogenesis +GARD:0021467,GARD:0022532,GARD:0018783,GARD:0016947,Rare urogenital disease +GARD:0021467,GARD:0022532,GARD:0018783,GARD:0016733,Rare urogenital disease +GARD:0021467,GARD:0022521,GARD:0018783,GARD:0016617,Rare endocrine disease +GARD:0021467,GARD:0022513,GARD:0018783,GARD:0016617,Rare developmental defect during embryogenesis +GARD:0021467,GARD:0022521,GARD:0018783,GARD:0018782,Rare endocrine disease +GARD:0021467,GARD:0022521,GARD:0018783,GARD:0016947,Rare endocrine disease +GARD:0021467,GARD:0022531,GARD:0021482,GARD:0002542,Rare genetic disease +GARD:0021467,GARD:0022521,GARD:0018783,GARD:0003086,Rare endocrine disease +GARD:0021467,GARD:0022532,GARD:0018783,GARD:0002542,Rare urogenital disease +GARD:0021467,GARD:0022513,GARD:0018783,GARD:0002542,Rare developmental defect during embryogenesis +GARD:0021467,GARD:0022513,GARD:0018783,GARD:0016947,Rare developmental defect during embryogenesis +GARD:0021467,GARD:0022532,GARD:0018783,GARD:0018782,Rare urogenital disease +GARD:0021467,GARD:0022513,GARD:0018783,GARD:0016733,Rare developmental defect during embryogenesis +GARD:0021467,GARD:0022532,GARD:0018783,GARD:0016617,Rare urogenital disease +GARD:0021467,GARD:0022513,GARD:0018783,GARD:0003086,Rare developmental defect during embryogenesis +GARD:0021467,GARD:0022521,GARD:0018783,GARD:0010302,Rare endocrine disease +GARD:0021467,GARD:0022521,GARD:0018783,GARD:0002542,Rare endocrine disease +GARD:0021467,GARD:0022531,GARD:0021482,GARD:0016733,Rare genetic disease +GARD:0021467,GARD:0022532,GARD:0018783,GARD:0017195,Rare urogenital disease +GARD:0021467,GARD:0022513,GARD:0018783,GARD:0017195,Rare developmental defect during embryogenesis +GARD:0021467,GARD:0022513,GARD:0018783,GARD:0010302,Rare developmental defect during embryogenesis +GARD:0021467,GARD:0022521,GARD:0018783,GARD:0016733,Rare endocrine disease +GARD:0021467,GARD:0022531,GARD:0021482,GARD:0016617,Rare genetic disease +GARD:0021467,GARD:0022521,GARD:0018783,GARD:0017195,Rare endocrine disease +GARD:0021467,GARD:0022531,GARD:0021482,GARD:0010302,Rare genetic disease +GARD:0021467,GARD:0022532,GARD:0018783,GARD:0003086,Rare urogenital disease +GARD:0021467,GARD:0022531,GARD:0021482,GARD:0016947,Rare genetic disease +GARD:0021467,GARD:0022531,GARD:0021482,GARD:0003086,Rare genetic disease +GARD:0021467,GARD:0022531,GARD:0021482,GARD:0018782,Rare genetic disease +GARD:0021468,GARD:0022531,GARD:0021483,GARD:0016552,Rare genetic disease +GARD:0021468,GARD:0022513,GARD:0008538,GARD:0017211,Rare developmental defect during embryogenesis +GARD:0021468,GARD:0022531,GARD:0021483,GARD:0017211,Rare genetic disease +GARD:0021468,GARD:0022532,GARD:0008538,GARD:0005819,Rare urogenital disease +GARD:0021468,GARD:0022513,GARD:0008538,GARD:0021469,Rare developmental defect during embryogenesis +GARD:0021468,GARD:0022532,GARD:0008538,GARD:0021469,Rare urogenital disease +GARD:0021468,GARD:0022521,GARD:0008538,GARD:0021469,Rare endocrine disease +GARD:0021468,GARD:0022532,GARD:0008538,GARD:0005068,Rare urogenital disease +GARD:0021468,GARD:0022513,GARD:0008538,GARD:0005068,Rare developmental defect during embryogenesis +GARD:0021468,GARD:0022513,GARD:0008538,GARD:0005819,Rare developmental defect during embryogenesis +GARD:0021468,GARD:0022521,GARD:0008538,GARD:0017211,Rare endocrine disease +GARD:0021468,GARD:0022521,GARD:0008538,GARD:0005819,Rare endocrine disease +GARD:0021468,GARD:0022531,GARD:0021483,GARD:0005819,Rare genetic disease +GARD:0021468,GARD:0022521,GARD:0008538,GARD:0005068,Rare endocrine disease +GARD:0021468,GARD:0022521,GARD:0008538,GARD:0016552,Rare endocrine disease +GARD:0021468,GARD:0022532,GARD:0008538,GARD:0017211,Rare urogenital disease +GARD:0021468,GARD:0022531,GARD:0021483,GARD:0021469,Rare genetic disease +GARD:0021468,GARD:0022531,GARD:0021483,GARD:0005068,Rare genetic disease +GARD:0021468,GARD:0022532,GARD:0008538,GARD:0016552,Rare urogenital disease +GARD:0021468,GARD:0022513,GARD:0008538,GARD:0016552,Rare developmental defect during embryogenesis +GARD:0021469,GARD:0022514,GARD:0019408,,Rare gynecologic or obstetric disease +GARD:0021469,GARD:0022513,GARD:0021468,,Rare developmental defect during embryogenesis +GARD:0021469,GARD:0022531,GARD:0019408,,Rare genetic disease +GARD:0021469,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021469,GARD:0022532,GARD:0021468,,Rare urogenital disease +GARD:0021469,GARD:0022521,GARD:0021468,,Rare endocrine disease +GARD:0021469,GARD:0022531,GARD:0021468,,Rare genetic disease +GARD:0021470,GARD:0022532,GARD:0008538,GARD:0021471,Rare urogenital disease +GARD:0021470,GARD:0022532,GARD:0008538,GARD:0005803,Rare urogenital disease +GARD:0021470,GARD:0022513,GARD:0008538,GARD:0021471,Rare developmental defect during embryogenesis +GARD:0021470,GARD:0022521,GARD:0008538,GARD:0008435,Rare endocrine disease +GARD:0021470,GARD:0022521,GARD:0008538,GARD:0021471,Rare endocrine disease +GARD:0021470,GARD:0022521,GARD:0008538,GARD:0005803,Rare endocrine disease +GARD:0021470,GARD:0022532,GARD:0008538,GARD:0008435,Rare urogenital disease +GARD:0021470,GARD:0022521,GARD:0008538,GARD:0021475,Rare endocrine disease +GARD:0021470,GARD:0022513,GARD:0008538,GARD:0021475,Rare developmental defect during embryogenesis +GARD:0021470,GARD:0022513,GARD:0008538,GARD:0008435,Rare developmental defect during embryogenesis +GARD:0021470,GARD:0022532,GARD:0008538,GARD:0021475,Rare urogenital disease +GARD:0021470,GARD:0022513,GARD:0008538,GARD:0005803,Rare developmental defect during embryogenesis +GARD:0021471,GARD:0022532,GARD:0021470,GARD:0021848,Rare urogenital disease +GARD:0021471,GARD:0022521,GARD:0021470,GARD:0019410,Rare endocrine disease +GARD:0021471,GARD:0022513,GARD:0021470,GARD:0019149,Rare developmental defect during embryogenesis +GARD:0021471,GARD:0022536,GARD:0022061,GARD:0019410,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021471,GARD:0022521,GARD:0021470,GARD:0019149,Rare endocrine disease +GARD:0021471,GARD:0022531,GARD:0021484,GARD:0019410,Rare genetic disease +GARD:0021471,GARD:0022531,GARD:0021484,GARD:0019149,Rare genetic disease +GARD:0021471,GARD:0022536,GARD:0022061,GARD:0019149,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021471,GARD:0022531,GARD:0021484,GARD:0003244,Rare genetic disease +GARD:0021471,GARD:0022536,GARD:0022061,GARD:0021848,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021471,GARD:0022531,GARD:0021484,GARD:0021848,Rare genetic disease +GARD:0021471,GARD:0022532,GARD:0021470,GARD:0003244,Rare urogenital disease +GARD:0021471,GARD:0022532,GARD:0021470,GARD:0019410,Rare urogenital disease +GARD:0021471,GARD:0022513,GARD:0021470,GARD:0003244,Rare developmental defect during embryogenesis +GARD:0021471,GARD:0022532,GARD:0021470,GARD:0019149,Rare urogenital disease +GARD:0021471,GARD:0022521,GARD:0021470,GARD:0021848,Rare endocrine disease +GARD:0021471,GARD:0022521,GARD:0021470,GARD:0003244,Rare endocrine disease +GARD:0021471,GARD:0022513,GARD:0021470,GARD:0019410,Rare developmental defect during embryogenesis +GARD:0021471,GARD:0022536,GARD:0022061,GARD:0003244,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021471,GARD:0022513,GARD:0021470,GARD:0021848,Rare developmental defect during embryogenesis +GARD:0021472,GARD:0022513,GARD:0019149,GARD:0005683,Rare developmental defect during embryogenesis +GARD:0021472,GARD:0022531,GARD:0019149,GARD:0005683,Rare genetic disease +GARD:0021472,GARD:0022536,GARD:0019149,GARD:0005683,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021472,GARD:0022521,GARD:0019149,GARD:0005683,Rare endocrine disease +GARD:0021472,GARD:0022532,GARD:0019149,GARD:0005683,Rare urogenital disease +GARD:0021473,GARD:0022536,GARD:0001465,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021473,GARD:0022513,GARD:0001465,,Rare developmental defect during embryogenesis +GARD:0021473,GARD:0022521,GARD:0001465,,Rare endocrine disease +GARD:0021473,GARD:0022532,GARD:0001465,,Rare urogenital disease +GARD:0021473,GARD:0022514,GARD:0001465,,Rare gynecologic or obstetric disease +GARD:0021473,GARD:0022529,GARD:0001465,,Rare infertility +GARD:0021473,GARD:0022531,GARD:0001465,,Rare genetic disease +GARD:0021474,GARD:0022529,GARD:0021671,,Rare infertility +GARD:0021474,GARD:0022531,GARD:0001465,,Rare genetic disease +GARD:0021474,GARD:0022513,GARD:0001465,,Rare developmental defect during embryogenesis +GARD:0021474,GARD:0022532,GARD:0001465,,Rare urogenital disease +GARD:0021474,GARD:0022521,GARD:0001465,,Rare endocrine disease +GARD:0021474,GARD:0022529,GARD:0001465,,Rare infertility +GARD:0021474,GARD:0022531,GARD:0021687,,Rare genetic disease +GARD:0021474,GARD:0022536,GARD:0001465,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021474,GARD:0022514,GARD:0001465,,Rare gynecologic or obstetric disease +GARD:0021475,GARD:0022521,GARD:0021470,,Rare endocrine disease +GARD:0021475,GARD:0022532,GARD:0021470,,Rare urogenital disease +GARD:0021475,GARD:0022513,GARD:0021470,,Rare developmental defect during embryogenesis +GARD:0021475,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021476,GARD:0022513,GARD:0019147,GARD:0020332,Rare developmental defect during embryogenesis +GARD:0021476,GARD:0022521,GARD:0019147,GARD:0020332,Rare endocrine disease +GARD:0021476,GARD:0022521,GARD:0019147,GARD:0018747,Rare endocrine disease +GARD:0021476,GARD:0022532,GARD:0019147,GARD:0020332,Rare urogenital disease +GARD:0021476,GARD:0022532,GARD:0019147,GARD:0018747,Rare urogenital disease +GARD:0021476,GARD:0022531,GARD:0021481,GARD:0018747,Rare genetic disease +GARD:0021476,GARD:0022532,GARD:0019147,GARD:0005679,Rare urogenital disease +GARD:0021476,GARD:0022531,GARD:0021481,GARD:0005676,Rare genetic disease +GARD:0021476,GARD:0022531,GARD:0021481,GARD:0005677,Rare genetic disease +GARD:0021476,GARD:0022531,GARD:0021481,GARD:0020332,Rare genetic disease +GARD:0021476,GARD:0022513,GARD:0019147,GARD:0005677,Rare developmental defect during embryogenesis +GARD:0021476,GARD:0022513,GARD:0019147,GARD:0005679,Rare developmental defect during embryogenesis +GARD:0021476,GARD:0022532,GARD:0019147,GARD:0007831,Rare urogenital disease +GARD:0021476,GARD:0022531,GARD:0021481,GARD:0005679,Rare genetic disease +GARD:0021476,GARD:0022521,GARD:0019147,GARD:0007831,Rare endocrine disease +GARD:0021476,GARD:0022513,GARD:0019147,GARD:0007831,Rare developmental defect during embryogenesis +GARD:0021476,GARD:0022521,GARD:0019147,GARD:0005677,Rare endocrine disease +GARD:0021476,GARD:0022531,GARD:0021481,GARD:0007831,Rare genetic disease +GARD:0021476,GARD:0022513,GARD:0019147,GARD:0005676,Rare developmental defect during embryogenesis +GARD:0021476,GARD:0022532,GARD:0019147,GARD:0005677,Rare urogenital disease +GARD:0021476,GARD:0022513,GARD:0019147,GARD:0018747,Rare developmental defect during embryogenesis +GARD:0021476,GARD:0022521,GARD:0019147,GARD:0005679,Rare endocrine disease +GARD:0021476,GARD:0022532,GARD:0019147,GARD:0005676,Rare urogenital disease +GARD:0021476,GARD:0022521,GARD:0019147,GARD:0005676,Rare endocrine disease +GARD:0021477,GARD:0022514,GARD:0022514,GARD:0019408,Rare gynecologic or obstetric disease +GARD:0021477,GARD:0022514,GARD:0022514,GARD:0021479,Rare gynecologic or obstetric disease +GARD:0021477,GARD:0022514,GARD:0022514,GARD:0019409,Rare gynecologic or obstetric disease +GARD:0021477,GARD:0022514,GARD:0022514,GARD:0021478,Rare gynecologic or obstetric disease +GARD:0021478,GARD:0022514,GARD:0021477,GARD:0019410,Rare gynecologic or obstetric disease +GARD:0021478,GARD:0022514,GARD:0021477,GARD:0005803,Rare gynecologic or obstetric disease +GARD:0021478,GARD:0022531,GARD:0021480,GARD:0019151,Rare genetic disease +GARD:0021478,GARD:0022531,GARD:0021480,GARD:0019410,Rare genetic disease +GARD:0021478,GARD:0022514,GARD:0021477,GARD:0019151,Rare gynecologic or obstetric disease +GARD:0021478,GARD:0022531,GARD:0021480,GARD:0005803,Rare genetic disease +GARD:0021478,GARD:0022531,GARD:0021480,GARD:0019150,Rare genetic disease +GARD:0021478,GARD:0022514,GARD:0021477,GARD:0019150,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0017195,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0018732,Rare genetic disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0020332,Rare genetic disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0005864,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0010027,Rare genetic disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0018764,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0003432,Rare genetic disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0010027,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0016947,Rare genetic disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0005528,Rare genetic disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0020332,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0016733,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0018732,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0018764,Rare genetic disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0016733,Rare genetic disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0016565,Rare genetic disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0017034,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0004550,Rare genetic disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0005864,Rare genetic disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0007831,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0005576,Rare genetic disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0005528,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0016565,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0017034,Rare genetic disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0002542,Rare genetic disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0007831,Rare genetic disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0016947,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0003086,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0002375,Rare genetic disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0002375,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0017195,Rare genetic disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0016617,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0005576,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0002541,Rare genetic disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0002542,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0004550,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0003432,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022514,GARD:0021477,GARD:0002541,Rare gynecologic or obstetric disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0016617,Rare genetic disease +GARD:0021479,GARD:0022531,GARD:0021480,GARD:0003086,Rare genetic disease +GARD:0021480,GARD:0022531,GARD:0020323,GARD:0021464,Rare genetic disease +GARD:0021480,GARD:0022531,GARD:0020323,GARD:0019148,Rare genetic disease +GARD:0021480,GARD:0022531,GARD:0020323,GARD:0019408,Rare genetic disease +GARD:0021480,GARD:0022531,GARD:0020323,GARD:0021479,Rare genetic disease +GARD:0021480,GARD:0022531,GARD:0020323,GARD:0021478,Rare genetic disease +GARD:0021481,GARD:0022531,GARD:0020011,GARD:0021483,Rare genetic disease +GARD:0021481,GARD:0022531,GARD:0020008,GARD:0021482,Rare genetic disease +GARD:0021481,GARD:0022531,GARD:0020011,GARD:0021476,Rare genetic disease +GARD:0021481,GARD:0022531,GARD:0020011,GARD:0021482,Rare genetic disease +GARD:0021481,GARD:0022531,GARD:0020008,GARD:0021483,Rare genetic disease +GARD:0021481,GARD:0022531,GARD:0020290,GARD:0021482,Rare genetic disease +GARD:0021481,GARD:0022531,GARD:0020290,GARD:0021476,Rare genetic disease +GARD:0021481,GARD:0022531,GARD:0020290,GARD:0021483,Rare genetic disease +GARD:0021481,GARD:0022531,GARD:0020008,GARD:0021476,Rare genetic disease +GARD:0021482,GARD:0022531,GARD:0021481,GARD:0019148,Rare genetic disease +GARD:0021482,GARD:0022531,GARD:0021481,GARD:0021463,Rare genetic disease +GARD:0021482,GARD:0022531,GARD:0021481,GARD:0021464,Rare genetic disease +GARD:0021482,GARD:0022531,GARD:0021481,GARD:0021467,Rare genetic disease +GARD:0021483,GARD:0022531,GARD:0021481,GARD:0021484,Rare genetic disease +GARD:0021483,GARD:0022531,GARD:0021481,GARD:0019411,Rare genetic disease +GARD:0021483,GARD:0022531,GARD:0021481,GARD:0021468,Rare genetic disease +GARD:0021484,GARD:0022531,GARD:0021483,GARD:0021471,Rare genetic disease +GARD:0021484,GARD:0022531,GARD:0021483,GARD:0005803,Rare genetic disease +GARD:0021485,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0021486,GARD:0022531,GARD:0019439,,Rare genetic disease +GARD:0021486,GARD:0022521,GARD:0019439,,Rare endocrine disease +GARD:0021487,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0021487,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0021487,GARD:0022522,GARD:0020680,,Rare hematologic disease +GARD:0021487,GARD:0022531,GARD:0020680,,Rare genetic disease +GARD:0021487,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0021488,GARD:0022511,GARD:0020629,,Rare bone disease +GARD:0021488,GARD:0022535,GARD:0021913,,Rare neoplastic disease +GARD:0021488,GARD:0022531,GARD:0020629,,Rare genetic disease +GARD:0021488,GARD:0022513,GARD:0021913,,Rare developmental defect during embryogenesis +GARD:0021488,GARD:0022527,GARD:0021913,,Rare circulatory system disease +GARD:0021489,GARD:0022513,GARD:0020041,,Rare developmental defect during embryogenesis +GARD:0021489,GARD:0022524,GARD:0020041,,Rare neurologic disease +GARD:0021489,GARD:0022531,GARD:0020041,,Rare genetic disease +GARD:0021490,GARD:0022536,GARD:0000524,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021490,GARD:0022535,GARD:0000524,,Rare neoplastic disease +GARD:0021490,GARD:0022522,GARD:0000524,,Rare hematologic disease +GARD:0021491,GARD:0022524,GARD:0019770,,Rare neurologic disease +GARD:0021491,GARD:0022511,GARD:0019205,,Rare bone disease +GARD:0021491,GARD:0022531,GARD:0019205,,Rare genetic disease +GARD:0021491,GARD:0022511,GARD:0019200,,Rare bone disease +GARD:0021491,GARD:0022531,GARD:0019200,,Rare genetic disease +GARD:0021491,GARD:0022513,GARD:0019200,,Rare developmental defect during embryogenesis +GARD:0021491,GARD:0022531,GARD:0019770,,Rare genetic disease +GARD:0021491,GARD:0022513,GARD:0019205,,Rare developmental defect during embryogenesis +GARD:0021492,GARD:0022524,GARD:0020361,,Rare neurologic disease +GARD:0021492,GARD:0022531,GARD:0020361,,Rare genetic disease +GARD:0021493,GARD:0022531,GARD:0019423,,Rare genetic disease +GARD:0021493,GARD:0022513,GARD:0019423,,Rare developmental defect during embryogenesis +GARD:0021494,GARD:0022515,GARD:0020096,,Rare cardiac disease +GARD:0021495,GARD:0022516,GARD:0019786,,Rare gastroenterologic disease +GARD:0021496,GARD:0022524,GARD:0009128,GARD:0012742,Rare neurologic disease +GARD:0021496,GARD:0022525,GARD:0009128,GARD:0021497,Rare systemic or rheumatologic disease +GARD:0021496,GARD:0022524,GARD:0009128,GARD:0006805,Rare neurologic disease +GARD:0021496,GARD:0022525,GARD:0009128,GARD:0006805,Rare systemic or rheumatologic disease +GARD:0021496,GARD:0022525,GARD:0009128,GARD:0012742,Rare systemic or rheumatologic disease +GARD:0021496,GARD:0022524,GARD:0009128,GARD:0021497,Rare neurologic disease +GARD:0021497,GARD:0022525,GARD:0021496,,Rare systemic or rheumatologic disease +GARD:0021497,GARD:0022524,GARD:0021496,,Rare neurologic disease +GARD:0021498,GARD:0022508,GARD:0021318,,Rare inborn errors of metabolism +GARD:0021498,GARD:0022531,GARD:0021318,,Rare genetic disease +GARD:0021499,GARD:0022531,GARD:0021018,,Rare genetic disease +GARD:0021499,GARD:0021079,GARD:0021997,,Rare systemic or rheumatological disease of childhood +GARD:0021499,GARD:0022525,GARD:0020257,,Rare systemic or rheumatologic disease +GARD:0021500,GARD:0022536,GARD:0019754,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021500,GARD:0022516,GARD:0019754,,Rare gastroenterologic disease +GARD:0021500,GARD:0022521,GARD:0019754,,Rare endocrine disease +GARD:0021500,GARD:0022535,GARD:0019754,,Rare neoplastic disease +GARD:0021501,GARD:0022525,GARD:0018676,,Rare systemic or rheumatologic disease +GARD:0021501,GARD:0022515,GARD:0020535,,Rare cardiac disease +GARD:0021501,GARD:0022536,GARD:0018676,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021502,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0021503,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0021504,GARD:0022510,GARD:0018995,,Rare skin disease +GARD:0021504,GARD:0022531,GARD:0010923,,Rare genetic disease +GARD:0021504,GARD:0022531,GARD:0021987,,Rare genetic disease +GARD:0021504,GARD:0022510,GARD:0019001,,Rare skin disease +GARD:0021504,GARD:0022510,GARD:0010923,,Rare skin disease +GARD:0021504,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0021504,GARD:0022531,GARD:0019001,,Rare genetic disease +GARD:0021504,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0021504,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0021505,GARD:0022536,GARD:0020607,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021505,GARD:0022522,GARD:0020607,,Rare hematologic disease +GARD:0021505,GARD:0022531,GARD:0020607,,Rare genetic disease +GARD:0021506,GARD:0022510,GARD:0019018,,Rare skin disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005124,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000296,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005554,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0004428,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0006984,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003382,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0013708,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0017633,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000201,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0010319,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002098,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0004718,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000287,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003604,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0001428,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003994,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0017116,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002594,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000846,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000066,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0010595,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0009818,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003440,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0001571,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005482,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003927,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000157,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0016612,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0012074,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005642,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000719,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0021364,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002633,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000237,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0006465,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000497,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000332,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0006848,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000448,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0004014,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005202,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005175,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002460,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0022068,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0006425,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0008755,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0007011,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002071,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003227,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003075,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0001666,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005021,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0007359,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002549,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0019045,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0017184,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003395,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0010295,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0016697,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0004465,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0006039,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000804,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0011893,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005469,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0004969,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0009177,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002221,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0016652,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000787,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0017961,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0001261,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000405,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000480,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0008410,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000216,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0001425,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0008174,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002728,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0010148,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0009124,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005430,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0001418,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0004170,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003212,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002390,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0001894,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002613,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003430,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005126,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000159,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000258,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003086,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0018933,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0008414,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002930,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0004638,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002276,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003653,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0018760,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000905,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0016551,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000360,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0004166,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002960,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002384,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000320,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0004873,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0004722,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0010147,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0019044,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005701,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0016562,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005667,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0006885,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0022284,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0009487,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0001686,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000514,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003904,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0001068,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0006666,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005472,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0017889,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0007784,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002614,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0016647,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000717,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0006992,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005123,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000386,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0009847,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0001100,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000588,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0006466,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005210,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000435,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0010081,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003943,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000957,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002742,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0001391,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0001067,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0016686,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000498,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0006036,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0010528,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0007111,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0004637,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002397,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003427,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000374,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0019679,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0010041,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002553,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000819,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0004223,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000061,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0004936,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0005525,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000267,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0017913,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003552,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0001671,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002908,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0003060,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002605,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0012644,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000713,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0000469,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0009634,Rare genetic disease +GARD:0021507,GARD:0022531,GARD:0020291,GARD:0002700,Rare genetic disease +GARD:0021508,GARD:0022523,GARD:0019809,GARD:0004483,Rare immune disease +GARD:0021508,GARD:0022536,GARD:0019809,GARD:0009297,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021508,GARD:0022536,GARD:0019809,GARD:0007343,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021508,GARD:0022531,GARD:0019809,GARD:0016783,Rare genetic disease +GARD:0021508,GARD:0022531,GARD:0019809,GARD:0004085,Rare genetic disease +GARD:0021508,GARD:0022531,GARD:0019809,GARD:0003248,Rare genetic disease +GARD:0021508,GARD:0022531,GARD:0019809,GARD:0005890,Rare genetic disease +GARD:0021508,GARD:0022536,GARD:0019809,GARD:0017585,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021508,GARD:0022523,GARD:0019809,GARD:0002515,Rare immune disease +GARD:0021508,GARD:0022531,GARD:0019809,GARD:0003982,Rare genetic disease +GARD:0021508,GARD:0022536,GARD:0019809,GARD:0004085,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021508,GARD:0022536,GARD:0019809,GARD:0003982,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021508,GARD:0022531,GARD:0019809,GARD:0015026,Rare genetic disease +GARD:0021508,GARD:0022523,GARD:0019809,GARD:0005890,Rare immune disease +GARD:0021508,GARD:0022523,GARD:0019809,GARD:0017585,Rare immune disease +GARD:0021508,GARD:0022523,GARD:0019809,GARD:0016783,Rare immune disease +GARD:0021508,GARD:0022523,GARD:0019809,GARD:0004085,Rare immune disease +GARD:0021508,GARD:0022523,GARD:0019809,GARD:0015026,Rare immune disease +GARD:0021508,GARD:0022523,GARD:0019809,GARD:0003982,Rare immune disease +GARD:0021508,GARD:0022523,GARD:0019809,GARD:0006126,Rare immune disease +GARD:0021508,GARD:0022531,GARD:0019809,GARD:0009297,Rare genetic disease +GARD:0021508,GARD:0022531,GARD:0019809,GARD:0002515,Rare genetic disease +GARD:0021508,GARD:0022536,GARD:0019809,GARD:0003248,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021508,GARD:0022536,GARD:0019809,GARD:0016783,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021508,GARD:0022536,GARD:0019809,GARD:0015026,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021508,GARD:0022531,GARD:0019809,GARD:0006126,Rare genetic disease +GARD:0021508,GARD:0022523,GARD:0019809,GARD:0003248,Rare immune disease +GARD:0021508,GARD:0022531,GARD:0019809,GARD:0017585,Rare genetic disease +GARD:0021508,GARD:0022523,GARD:0019809,GARD:0009297,Rare immune disease +GARD:0021508,GARD:0022523,GARD:0019809,GARD:0007343,Rare immune disease +GARD:0021508,GARD:0022536,GARD:0019809,GARD:0006126,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021508,GARD:0022531,GARD:0019809,GARD:0004483,Rare genetic disease +GARD:0021508,GARD:0022536,GARD:0019809,GARD:0002515,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021508,GARD:0022536,GARD:0019809,GARD:0005890,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021508,GARD:0022531,GARD:0019809,GARD:0007343,Rare genetic disease +GARD:0021508,GARD:0022536,GARD:0019809,GARD:0004483,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021509,GARD:0022531,GARD:0019810,GARD:0009297,Rare genetic disease +GARD:0021509,GARD:0022531,GARD:0019810,GARD:0022300,Rare genetic disease +GARD:0021509,GARD:0022523,GARD:0019810,GARD:0017483,Rare immune disease +GARD:0021509,GARD:0022523,GARD:0019810,GARD:0022300,Rare immune disease +GARD:0021509,GARD:0022531,GARD:0019810,GARD:0017483,Rare genetic disease +GARD:0021509,GARD:0022531,GARD:0019810,GARD:0006357,Rare genetic disease +GARD:0021509,GARD:0022523,GARD:0019810,GARD:0016944,Rare immune disease +GARD:0021509,GARD:0022523,GARD:0019810,GARD:0006357,Rare immune disease +GARD:0021509,GARD:0022523,GARD:0019810,GARD:0009297,Rare immune disease +GARD:0021509,GARD:0022531,GARD:0019810,GARD:0016944,Rare genetic disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0010083,Rare immune disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0000448,Rare immune disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0020114,Rare immune disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0003013,Rare genetic disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0007895,Rare immune disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0012338,Rare genetic disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0012338,Rare immune disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0017133,Rare immune disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0017528,Rare immune disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0010905,Rare immune disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0017494,Rare immune disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0020114,Rare genetic disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0004358,Rare immune disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0022468,Rare genetic disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0009936,Rare immune disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0017731,Rare immune disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0000346,Rare immune disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0007895,Rare genetic disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0020115,Rare genetic disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0017731,Rare genetic disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0017442,Rare immune disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0010083,Rare genetic disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0017048,Rare genetic disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0003318,Rare genetic disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0016615,Rare immune disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0010956,Rare genetic disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0021511,Rare genetic disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0016681,Rare genetic disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0012983,Rare genetic disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0010956,Rare immune disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0022468,Rare immune disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0021511,Rare immune disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0017133,Rare genetic disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0017442,Rare genetic disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0009936,Rare genetic disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0000448,Rare genetic disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0017494,Rare genetic disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0012983,Rare immune disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0017528,Rare genetic disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0016615,Rare genetic disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0003013,Rare immune disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0003318,Rare immune disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0020115,Rare immune disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0016681,Rare immune disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0000346,Rare genetic disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0010905,Rare genetic disease +GARD:0021510,GARD:0022523,GARD:0020168,GARD:0017048,Rare immune disease +GARD:0021510,GARD:0022531,GARD:0020168,GARD:0004358,Rare genetic disease +GARD:0021511,GARD:0022531,GARD:0021510,GARD:0000029,Rare genetic disease +GARD:0021511,GARD:0022523,GARD:0021510,GARD:0010299,Rare immune disease +GARD:0021511,GARD:0022531,GARD:0021510,GARD:0010299,Rare genetic disease +GARD:0021511,GARD:0022523,GARD:0021510,GARD:0000029,Rare immune disease +GARD:0021511,GARD:0022523,GARD:0021510,GARD:0007201,Rare immune disease +GARD:0021511,GARD:0022531,GARD:0021510,GARD:0007201,Rare genetic disease +GARD:0021512,GARD:0022523,GARD:0019807,GARD:0000274,Rare immune disease +GARD:0021512,GARD:0022531,GARD:0019807,GARD:0017086,Rare genetic disease +GARD:0021512,GARD:0022531,GARD:0019807,GARD:0012547,Rare genetic disease +GARD:0021512,GARD:0022523,GARD:0019807,GARD:0012547,Rare immune disease +GARD:0021512,GARD:0022531,GARD:0019807,GARD:0000274,Rare genetic disease +GARD:0021512,GARD:0022523,GARD:0019807,GARD:0020111,Rare immune disease +GARD:0021512,GARD:0022531,GARD:0019807,GARD:0020111,Rare genetic disease +GARD:0021512,GARD:0022523,GARD:0019807,GARD:0017086,Rare immune disease +GARD:0021513,GARD:0022536,GARD:0022063,GARD:0017217,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021513,GARD:0022531,GARD:0019807,GARD:0017217,Rare genetic disease +GARD:0021513,GARD:0022531,GARD:0019807,GARD:0017085,Rare genetic disease +GARD:0021513,GARD:0022523,GARD:0019807,GARD:0017217,Rare immune disease +GARD:0021513,GARD:0022536,GARD:0022063,GARD:0017085,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021513,GARD:0022523,GARD:0019807,GARD:0017085,Rare immune disease +GARD:0021514,GARD:0022531,GARD:0019807,GARD:0000239,Rare genetic disease +GARD:0021514,GARD:0022523,GARD:0019807,GARD:0017586,Rare immune disease +GARD:0021514,GARD:0022531,GARD:0019807,GARD:0017353,Rare genetic disease +GARD:0021514,GARD:0022523,GARD:0019807,GARD:0000239,Rare immune disease +GARD:0021514,GARD:0022531,GARD:0019807,GARD:0018713,Rare genetic disease +GARD:0021514,GARD:0022523,GARD:0019807,GARD:0010106,Rare immune disease +GARD:0021514,GARD:0022523,GARD:0019807,GARD:0017353,Rare immune disease +GARD:0021514,GARD:0022531,GARD:0019807,GARD:0017586,Rare genetic disease +GARD:0021514,GARD:0022531,GARD:0019807,GARD:0010106,Rare genetic disease +GARD:0021514,GARD:0022523,GARD:0019807,GARD:0018713,Rare immune disease +GARD:0021515,GARD:0022531,GARD:0020025,GARD:0004483,Rare genetic disease +GARD:0021515,GARD:0022536,GARD:0020025,GARD:0006035,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021515,GARD:0022531,GARD:0020025,GARD:0006035,Rare genetic disease +GARD:0021515,GARD:0022531,GARD:0020025,GARD:0015026,Rare genetic disease +GARD:0021515,GARD:0022536,GARD:0020025,GARD:0004483,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021515,GARD:0022536,GARD:0020025,GARD:0015026,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021515,GARD:0022523,GARD:0020025,GARD:0006035,Rare immune disease +GARD:0021515,GARD:0022523,GARD:0020025,GARD:0004483,Rare immune disease +GARD:0021515,GARD:0022523,GARD:0020025,GARD:0015026,Rare immune disease +GARD:0021516,GARD:0022508,GARD:0021314,GARD:0021518,Rare inborn errors of metabolism +GARD:0021516,GARD:0022531,GARD:0021314,GARD:0013818,Rare genetic disease +GARD:0021516,GARD:0022531,GARD:0021314,GARD:0021519,Rare genetic disease +GARD:0021516,GARD:0022508,GARD:0021314,GARD:0013818,Rare inborn errors of metabolism +GARD:0021516,GARD:0022531,GARD:0021314,GARD:0021517,Rare genetic disease +GARD:0021516,GARD:0022531,GARD:0021314,GARD:0021518,Rare genetic disease +GARD:0021516,GARD:0022508,GARD:0021314,GARD:0021519,Rare inborn errors of metabolism +GARD:0021516,GARD:0022508,GARD:0021314,GARD:0021517,Rare inborn errors of metabolism +GARD:0021517,GARD:0022508,GARD:0021516,GARD:0012369,Rare inborn errors of metabolism +GARD:0021517,GARD:0022531,GARD:0021516,GARD:0017946,Rare genetic disease +GARD:0021517,GARD:0022508,GARD:0021516,GARD:0017946,Rare inborn errors of metabolism +GARD:0021517,GARD:0022508,GARD:0021516,GARD:0018033,Rare inborn errors of metabolism +GARD:0021517,GARD:0022508,GARD:0021516,GARD:0007654,Rare inborn errors of metabolism +GARD:0021517,GARD:0022531,GARD:0021516,GARD:0012369,Rare genetic disease +GARD:0021517,GARD:0022531,GARD:0021516,GARD:0012059,Rare genetic disease +GARD:0021517,GARD:0022508,GARD:0021516,GARD:0004924,Rare inborn errors of metabolism +GARD:0021517,GARD:0022531,GARD:0021516,GARD:0017706,Rare genetic disease +GARD:0021517,GARD:0022508,GARD:0021516,GARD:0012567,Rare inborn errors of metabolism +GARD:0021517,GARD:0022531,GARD:0021516,GARD:0006564,Rare genetic disease +GARD:0021517,GARD:0022508,GARD:0021516,GARD:0012059,Rare inborn errors of metabolism +GARD:0021517,GARD:0022508,GARD:0021516,GARD:0006564,Rare inborn errors of metabolism +GARD:0021517,GARD:0022508,GARD:0021516,GARD:0012963,Rare inborn errors of metabolism +GARD:0021517,GARD:0022508,GARD:0021516,GARD:0017515,Rare inborn errors of metabolism +GARD:0021517,GARD:0022508,GARD:0021516,GARD:0010810,Rare inborn errors of metabolism +GARD:0021517,GARD:0022531,GARD:0021516,GARD:0010327,Rare genetic disease +GARD:0021517,GARD:0022508,GARD:0021516,GARD:0017706,Rare inborn errors of metabolism +GARD:0021517,GARD:0022508,GARD:0021516,GARD:0010327,Rare inborn errors of metabolism +GARD:0021517,GARD:0022531,GARD:0021516,GARD:0007654,Rare genetic disease +GARD:0021517,GARD:0022531,GARD:0021516,GARD:0012963,Rare genetic disease +GARD:0021517,GARD:0022531,GARD:0021516,GARD:0018033,Rare genetic disease +GARD:0021517,GARD:0022531,GARD:0021516,GARD:0012567,Rare genetic disease +GARD:0021517,GARD:0022531,GARD:0021516,GARD:0017515,Rare genetic disease +GARD:0021517,GARD:0022531,GARD:0021516,GARD:0010810,Rare genetic disease +GARD:0021517,GARD:0022531,GARD:0021516,GARD:0004924,Rare genetic disease +GARD:0021518,GARD:0022531,GARD:0021516,GARD:0006635,Rare genetic disease +GARD:0021518,GARD:0022531,GARD:0021516,GARD:0017071,Rare genetic disease +GARD:0021518,GARD:0022508,GARD:0021516,GARD:0017071,Rare inborn errors of metabolism +GARD:0021518,GARD:0022508,GARD:0021516,GARD:0006635,Rare inborn errors of metabolism +GARD:0021519,GARD:0022531,GARD:0021516,GARD:0016916,Rare genetic disease +GARD:0021519,GARD:0022531,GARD:0021516,GARD:0001142,Rare genetic disease +GARD:0021519,GARD:0022508,GARD:0021516,GARD:0016916,Rare inborn errors of metabolism +GARD:0021519,GARD:0022531,GARD:0021516,GARD:0005890,Rare genetic disease +GARD:0021519,GARD:0022508,GARD:0021516,GARD:0010317,Rare inborn errors of metabolism +GARD:0021519,GARD:0022508,GARD:0021516,GARD:0001142,Rare inborn errors of metabolism +GARD:0021519,GARD:0022508,GARD:0021516,GARD:0003262,Rare inborn errors of metabolism +GARD:0021519,GARD:0022531,GARD:0021516,GARD:0003262,Rare genetic disease +GARD:0021519,GARD:0022508,GARD:0021516,GARD:0005890,Rare inborn errors of metabolism +GARD:0021519,GARD:0022531,GARD:0021516,GARD:0010317,Rare genetic disease +GARD:0021520,GARD:0022531,GARD:0018771,GARD:0020758,Rare genetic disease +GARD:0021520,GARD:0022508,GARD:0018771,GARD:0009920,Rare inborn errors of metabolism +GARD:0021520,GARD:0022508,GARD:0018771,GARD:0020758,Rare inborn errors of metabolism +GARD:0021520,GARD:0022508,GARD:0018771,GARD:0013643,Rare inborn errors of metabolism +GARD:0021520,GARD:0022531,GARD:0018771,GARD:0013643,Rare genetic disease +GARD:0021520,GARD:0022531,GARD:0018771,GARD:0017517,Rare genetic disease +GARD:0021520,GARD:0022508,GARD:0018771,GARD:0017517,Rare inborn errors of metabolism +GARD:0021520,GARD:0022531,GARD:0018771,GARD:0009920,Rare genetic disease +GARD:0021521,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021521,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0021521,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0021521,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021521,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021521,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0021522,GARD:0022531,GARD:0020088,,Rare genetic disease +GARD:0021522,GARD:0022524,GARD:0020088,,Rare neurologic disease +GARD:0021522,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021522,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021522,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021522,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0021522,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0021523,GARD:0022531,GARD:0020944,,Rare genetic disease +GARD:0021523,GARD:0022531,GARD:0020835,,Rare genetic disease +GARD:0021523,GARD:0022517,GARD:0020923,,Rare respiratory disease +GARD:0021523,GARD:0022513,GARD:0020835,,Rare developmental defect during embryogenesis +GARD:0021523,GARD:0022536,GARD:0020923,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021524,GARD:0022531,GARD:0019204,,Rare genetic disease +GARD:0021524,GARD:0022511,GARD:0019204,,Rare bone disease +GARD:0021524,GARD:0022513,GARD:0019204,,Rare developmental defect during embryogenesis +GARD:0021525,GARD:0022524,GARD:0019413,,Rare neurologic disease +GARD:0021525,GARD:0022508,GARD:0007672,,Rare inborn errors of metabolism +GARD:0021525,GARD:0022531,GARD:0007672,,Rare genetic disease +GARD:0021525,GARD:0022531,GARD:0019413,,Rare genetic disease +GARD:0021525,GARD:0022536,GARD:0007672,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021526,GARD:0022513,GARD:0020829,,Rare developmental defect during embryogenesis +GARD:0021526,GARD:0022531,GARD:0017785,,Rare genetic disease +GARD:0021526,GARD:0022513,GARD:0017785,,Rare developmental defect during embryogenesis +GARD:0021526,GARD:0022524,GARD:0017785,,Rare neurologic disease +GARD:0021526,GARD:0022531,GARD:0020829,,Rare genetic disease +GARD:0021526,GARD:0022511,GARD:0017785,,Rare bone disease +GARD:0021526,GARD:0022519,GARD:0017785,,Rare surgical cardiac disease +GARD:0021527,GARD:0022524,GARD:0012733,,Rare neurologic disease +GARD:0021527,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0021527,GARD:0022531,GARD:0012733,,Rare genetic disease +GARD:0021527,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0021528,GARD:0022508,GARD:0018937,GARD:0010958,Rare inborn errors of metabolism +GARD:0021528,GARD:0022531,GARD:0018937,GARD:0010958,Rare genetic disease +GARD:0021528,GARD:0022508,GARD:0018937,GARD:0021124,Rare inborn errors of metabolism +GARD:0021528,GARD:0022531,GARD:0018937,GARD:0021124,Rare genetic disease +GARD:0021529,GARD:0022531,GARD:0004037,,Rare genetic disease +GARD:0021529,GARD:0022510,GARD:0004037,,Rare skin disease +GARD:0021529,GARD:0022520,GARD:0004037,,Rare ophthalmic disorder +GARD:0021529,GARD:0022508,GARD:0004037,,Rare inborn errors of metabolism +GARD:0021530,GARD:0022524,GARD:0019819,,Rare neurologic disease +GARD:0021530,GARD:0022531,GARD:0022184,,Rare genetic disease +GARD:0021530,GARD:0022520,GARD:0022104,,Rare ophthalmic disorder +GARD:0021531,GARD:0022524,GARD:0021989,,Rare neurologic disease +GARD:0021531,GARD:0022520,GARD:0021989,,Rare ophthalmic disorder +GARD:0021531,GARD:0022520,GARD:0022102,,Rare ophthalmic disorder +GARD:0021532,GARD:0022524,GARD:0021989,,Rare neurologic disease +GARD:0021532,GARD:0022520,GARD:0022102,,Rare ophthalmic disorder +GARD:0021532,GARD:0022520,GARD:0021989,,Rare ophthalmic disorder +GARD:0021533,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0021533,GARD:0022535,GARD:0019795,,Rare neoplastic disease +GARD:0021533,GARD:0022520,GARD:0019795,,Rare ophthalmic disorder +GARD:0021534,GARD:0022513,GARD:0020823,,Rare developmental defect during embryogenesis +GARD:0021534,GARD:0022531,GARD:0020823,,Rare genetic disease +GARD:0021535,GARD:0022518,GARD:0007759,,Rare surgical thoracic disease +GARD:0021536,GARD:0022518,GARD:0007759,,Rare surgical thoracic disease +GARD:0021537,GARD:0022510,GARD:0001643,,Rare skin disease +GARD:0021538,GARD:0022531,GARD:0021970,,Rare genetic disease +GARD:0021538,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0021538,GARD:0022510,GARD:0001643,,Rare skin disease +GARD:0021538,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0021539,GARD:0022512,GARD:0022294,GARD:0018003,Rare renal disease +GARD:0021539,GARD:0022512,GARD:0022294,GARD:0022286,Rare renal disease +GARD:0021539,GARD:0022536,GARD:0022294,GARD:0022286,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021539,GARD:0022536,GARD:0022294,GARD:0018003,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021539,GARD:0022536,GARD:0022294,GARD:0016678,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021539,GARD:0022512,GARD:0022294,GARD:0016678,Rare renal disease +GARD:0021540,GARD:0022531,GARD:0020293,GARD:0016854,Rare genetic disease +GARD:0021540,GARD:0022531,GARD:0020293,GARD:0002207,Rare genetic disease +GARD:0021540,GARD:0022531,GARD:0020293,GARD:0018748,Rare genetic disease +GARD:0021540,GARD:0022531,GARD:0020293,GARD:0019173,Rare genetic disease +GARD:0021540,GARD:0022531,GARD:0020293,GARD:0018700,Rare genetic disease +GARD:0021540,GARD:0022531,GARD:0020293,GARD:0021804,Rare genetic disease +GARD:0021540,GARD:0022531,GARD:0020293,GARD:0001975,Rare genetic disease +GARD:0021540,GARD:0022531,GARD:0020293,GARD:0009228,Rare genetic disease +GARD:0021540,GARD:0022531,GARD:0020293,GARD:0019172,Rare genetic disease +GARD:0021540,GARD:0022531,GARD:0020293,GARD:0000232,Rare genetic disease +GARD:0021541,GARD:0022527,GARD:0021917,GARD:0018785,Rare circulatory system disease +GARD:0021541,GARD:0022513,GARD:0019094,GARD:0019559,Rare developmental defect during embryogenesis +GARD:0021541,GARD:0022519,GARD:0019094,GARD:0019559,Rare surgical cardiac disease +GARD:0021541,GARD:0022513,GARD:0021917,GARD:0018785,Rare developmental defect during embryogenesis +GARD:0021541,GARD:0022513,GARD:0019094,GARD:0018785,Rare developmental defect during embryogenesis +GARD:0021541,GARD:0022519,GARD:0019094,GARD:0018785,Rare surgical cardiac disease +GARD:0021541,GARD:0022513,GARD:0021917,GARD:0019559,Rare developmental defect during embryogenesis +GARD:0021541,GARD:0022527,GARD:0021917,GARD:0019559,Rare circulatory system disease +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0001333,Rare genetic disease +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0004724,Rare genetic disease +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0001345,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0004724,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0006072,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0006069,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0010846,Rare genetic disease +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0006083,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0010855,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0001347,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0001325,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0001336,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0001325,Rare genetic disease +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0010839,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0001334,Rare genetic disease +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0010841,Rare genetic disease +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0010837,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0001328,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0010846,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0001339,Rare genetic disease +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0001348,Rare genetic disease +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0001322,Rare genetic disease +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0006095,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0010841,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0001345,Rare genetic disease +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0001322,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0001336,Rare genetic disease +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0001348,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0001328,Rare genetic disease +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0010855,Rare genetic disease +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0006069,Rare genetic disease +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0001347,Rare genetic disease +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0006083,Rare genetic disease +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0001339,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0001320,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0006077,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0006095,Rare genetic disease +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0006072,Rare genetic disease +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0010839,Rare genetic disease +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0010837,Rare genetic disease +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0001320,Rare genetic disease +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0001333,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022513,GARD:0019417,GARD:0001334,Rare developmental defect during embryogenesis +GARD:0021542,GARD:0022531,GARD:0019417,GARD:0006077,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0000330,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0017722,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0011893,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0006122,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0003126,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0017736,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0005630,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0017281,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0004276,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0007910,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0006885,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0004494,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0011910,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0007633,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0010989,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0004392,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0016646,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0007885,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0017130,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0007467,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0000415,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0013388,Rare genetic disease +GARD:0021543,GARD:0022531,GARD:0020290,GARD:0011008,Rare genetic disease +GARD:0021544,GARD:0022531,GARD:0022531,GARD:0002322,Rare genetic disease +GARD:0021544,GARD:0022531,GARD:0022531,GARD:0019987,Rare genetic disease +GARD:0021544,GARD:0022531,GARD:0022531,GARD:0022069,Rare genetic disease +GARD:0021544,GARD:0022531,GARD:0022531,GARD:0006683,Rare genetic disease +GARD:0021544,GARD:0022531,GARD:0022531,GARD:0006550,Rare genetic disease +GARD:0021544,GARD:0022531,GARD:0022531,GARD:0017807,Rare genetic disease +GARD:0021544,GARD:0022531,GARD:0022531,GARD:0006003,Rare genetic disease +GARD:0021544,GARD:0022531,GARD:0022531,GARD:0017993,Rare genetic disease +GARD:0021544,GARD:0022531,GARD:0022531,GARD:0019986,Rare genetic disease +GARD:0021544,GARD:0022531,GARD:0022531,GARD:0017419,Rare genetic disease +GARD:0021544,GARD:0022531,GARD:0022531,GARD:0017818,Rare genetic disease +GARD:0021545,GARD:0022531,GARD:0019998,GARD:0017583,Rare genetic disease +GARD:0021545,GARD:0022531,GARD:0019998,GARD:0019898,Rare genetic disease +GARD:0021545,GARD:0022531,GARD:0019998,GARD:0019896,Rare genetic disease +GARD:0021545,GARD:0022531,GARD:0019998,GARD:0010089,Rare genetic disease +GARD:0021545,GARD:0022531,GARD:0019998,GARD:0019894,Rare genetic disease +GARD:0021545,GARD:0022531,GARD:0019998,GARD:0019897,Rare genetic disease +GARD:0021546,GARD:0022531,GARD:0020060,GARD:0019882,Rare genetic disease +GARD:0021546,GARD:0022531,GARD:0020060,GARD:0005258,Rare genetic disease +GARD:0021546,GARD:0022531,GARD:0020060,GARD:0022148,Rare genetic disease +GARD:0021546,GARD:0022531,GARD:0020060,GARD:0010630,Rare genetic disease +GARD:0021546,GARD:0022531,GARD:0020060,GARD:0016576,Rare genetic disease +GARD:0021546,GARD:0022531,GARD:0020060,GARD:0016945,Rare genetic disease +GARD:0021546,GARD:0022531,GARD:0020060,GARD:0007039,Rare genetic disease +GARD:0021546,GARD:0022531,GARD:0020060,GARD:0022262,Rare genetic disease +GARD:0021546,GARD:0022531,GARD:0020060,GARD:0017500,Rare genetic disease +GARD:0021547,GARD:0022531,GARD:0020060,GARD:0005723,Rare genetic disease +GARD:0021547,GARD:0022531,GARD:0020060,GARD:0000005,Rare genetic disease +GARD:0021547,GARD:0022531,GARD:0020060,GARD:0009683,Rare genetic disease +GARD:0021548,GARD:0022531,GARD:0020060,GARD:0006408,Rare genetic disease +GARD:0021548,GARD:0022531,GARD:0020060,GARD:0007378,Rare genetic disease +GARD:0021548,GARD:0022531,GARD:0020060,GARD:0008532,Rare genetic disease +GARD:0021548,GARD:0022531,GARD:0020060,GARD:0016982,Rare genetic disease +GARD:0021548,GARD:0022531,GARD:0020060,GARD:0016981,Rare genetic disease +GARD:0021548,GARD:0022531,GARD:0020060,GARD:0003065,Rare genetic disease +GARD:0021548,GARD:0022531,GARD:0020060,GARD:0005887,Rare genetic disease +GARD:0021549,GARD:0022532,GARD:0020250,GARD:0017100,Rare urogenital disease +GARD:0021549,GARD:0022535,GARD:0020250,GARD:0021550,Rare neoplastic disease +GARD:0021549,GARD:0022532,GARD:0020250,GARD:0021551,Rare urogenital disease +GARD:0021549,GARD:0022535,GARD:0020250,GARD:0017100,Rare neoplastic disease +GARD:0021549,GARD:0022532,GARD:0020250,GARD:0021550,Rare urogenital disease +GARD:0021549,GARD:0022535,GARD:0020250,GARD:0021551,Rare neoplastic disease +GARD:0021549,GARD:0022535,GARD:0020250,GARD:0017560,Rare neoplastic disease +GARD:0021549,GARD:0022532,GARD:0020250,GARD:0013047,Rare urogenital disease +GARD:0021549,GARD:0022532,GARD:0020250,GARD:0017560,Rare urogenital disease +GARD:0021549,GARD:0022535,GARD:0020250,GARD:0013047,Rare neoplastic disease +GARD:0021550,GARD:0022532,GARD:0021549,,Rare urogenital disease +GARD:0021550,GARD:0022535,GARD:0021549,,Rare neoplastic disease +GARD:0021551,GARD:0022532,GARD:0021549,,Rare urogenital disease +GARD:0021551,GARD:0022535,GARD:0021549,,Rare neoplastic disease +GARD:0021552,GARD:0022524,GARD:0021553,,Rare neurologic disease +GARD:0021553,GARD:0022524,GARD:0020090,GARD:0011005,Rare neurologic disease +GARD:0021553,GARD:0022524,GARD:0020090,GARD:0019085,Rare neurologic disease +GARD:0021553,GARD:0022524,GARD:0020090,GARD:0021552,Rare neurologic disease +GARD:0021553,GARD:0022524,GARD:0019437,GARD:0021552,Rare neurologic disease +GARD:0021553,GARD:0022524,GARD:0020090,GARD:0012244,Rare neurologic disease +GARD:0021553,GARD:0022524,GARD:0019437,GARD:0019085,Rare neurologic disease +GARD:0021553,GARD:0022524,GARD:0019437,GARD:0011005,Rare neurologic disease +GARD:0021553,GARD:0022524,GARD:0019437,GARD:0012244,Rare neurologic disease +GARD:0021554,GARD:0022535,GARD:0018797,GARD:0013047,Rare neoplastic disease +GARD:0021554,GARD:0022536,GARD:0018797,GARD:0013047,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021554,GARD:0022536,GARD:0018797,GARD:0009330,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021554,GARD:0022535,GARD:0018797,GARD:0009330,Rare neoplastic disease +GARD:0021555,GARD:0022531,GARD:0019399,,Rare genetic disease +GARD:0021555,GARD:0022531,GARD:0021243,,Rare genetic disease +GARD:0021555,GARD:0022531,GARD:0019017,,Rare genetic disease +GARD:0021555,GARD:0022510,GARD:0019017,,Rare skin disease +GARD:0021555,GARD:0022515,GARD:0022515,,Rare cardiac disease +GARD:0021556,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021556,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021556,GARD:0022531,GARD:0020890,,Rare genetic disease +GARD:0021556,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021556,GARD:0022513,GARD:0020890,,Rare developmental defect during embryogenesis +GARD:0021557,GARD:0022513,GARD:0020807,,Rare developmental defect during embryogenesis +GARD:0021557,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021557,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021557,GARD:0022531,GARD:0020807,,Rare genetic disease +GARD:0021557,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021558,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0021559,GARD:0022513,GARD:0010727,,Rare developmental defect during embryogenesis +GARD:0021559,GARD:0022531,GARD:0010727,,Rare genetic disease +GARD:0021559,GARD:0022524,GARD:0010727,,Rare neurologic disease +GARD:0021560,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0021560,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0021561,GARD:0022513,GARD:0002783,,Rare developmental defect during embryogenesis +GARD:0021562,GARD:0022535,GARD:0020133,,Rare neoplastic disease +GARD:0021562,GARD:0022536,GARD:0020133,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021562,GARD:0022535,GARD:0021147,,Rare neoplastic disease +GARD:0021562,GARD:0022522,GARD:0020133,,Rare hematologic disease +GARD:0021563,GARD:0022522,GARD:0020133,,Rare hematologic disease +GARD:0021563,GARD:0022536,GARD:0020133,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021563,GARD:0022535,GARD:0020133,,Rare neoplastic disease +GARD:0021563,GARD:0022535,GARD:0021147,,Rare neoplastic disease +GARD:0021564,GARD:0022536,GARD:0003178,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021564,GARD:0022535,GARD:0003178,,Rare neoplastic disease +GARD:0021564,GARD:0022522,GARD:0003178,,Rare hematologic disease +GARD:0021565,GARD:0022531,GARD:0022099,,Rare genetic disease +GARD:0021565,GARD:0022520,GARD:0022099,,Rare ophthalmic disorder +GARD:0021566,GARD:0022531,GARD:0019872,,Rare genetic disease +GARD:0021566,GARD:0022513,GARD:0019872,,Rare developmental defect during embryogenesis +GARD:0021566,GARD:0022513,GARD:0021572,,Rare developmental defect during embryogenesis +GARD:0021566,GARD:0022511,GARD:0021572,,Rare bone disease +GARD:0021566,GARD:0022531,GARD:0021726,,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0008542,Rare genetic disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0021570,Rare bone disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0016822,Rare bone disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019196,Rare bone disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019196,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0016822,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019206,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019201,Rare bone disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0022020,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0000006,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0022021,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019194,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019191,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0016822,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019197,Rare bone disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019197,Rare genetic disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019194,Rare bone disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0010887,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0021570,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0021569,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019206,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0022021,Rare genetic disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0010887,Rare bone disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019204,Rare bone disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0000006,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019196,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0021568,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0021569,Rare bone disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0007687,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0022020,Rare genetic disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0022021,Rare bone disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019193,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019205,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019197,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0017717,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0000006,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019204,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019205,Rare bone disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019195,Rare bone disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0017717,Rare bone disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019200,Rare bone disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0008542,Rare bone disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0008542,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0018685,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0022021,Rare genetic disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019215,Rare bone disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019202,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0010887,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019201,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0018685,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019197,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019215,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0021570,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0017717,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0021570,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019194,Rare genetic disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0000006,Rare bone disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019201,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019195,Rare genetic disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019206,Rare bone disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019204,Rare genetic disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0022020,Rare bone disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0016822,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019202,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019205,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0021569,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0008542,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019192,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019204,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019192,Rare genetic disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019191,Rare bone disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019193,Rare bone disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019201,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019193,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019191,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019191,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019194,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019195,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019193,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0022020,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0018685,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019195,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0021568,Rare bone disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0007687,Rare bone disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0010887,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019198,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0021569,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019205,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0021568,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019206,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019198,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019215,Rare genetic disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019198,Rare bone disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0021568,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019215,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019200,Rare genetic disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0019196,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019192,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0019200,Rare genetic disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0018685,Rare bone disease +GARD:0021567,GARD:0022531,GARD:0020288,GARD:0007687,Rare genetic disease +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0017717,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019202,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019198,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022513,GARD:0019901,GARD:0019200,Rare developmental defect during embryogenesis +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019192,Rare bone disease +GARD:0021567,GARD:0022511,GARD:0022511,GARD:0019202,Rare bone disease +GARD:0021567,GARD:0022531,GARD:0021730,GARD:0007687,Rare genetic disease +GARD:0021568,GARD:0022531,GARD:0021567,GARD:0000109,Rare genetic disease +GARD:0021568,GARD:0022513,GARD:0021567,GARD:0006445,Rare developmental defect during embryogenesis +GARD:0021568,GARD:0022511,GARD:0021567,GARD:0006445,Rare bone disease +GARD:0021568,GARD:0022513,GARD:0021567,GARD:0000109,Rare developmental defect during embryogenesis +GARD:0021568,GARD:0022511,GARD:0021567,GARD:0000109,Rare bone disease +GARD:0021568,GARD:0022531,GARD:0021567,GARD:0006445,Rare genetic disease +GARD:0021569,GARD:0022511,GARD:0021567,GARD:0008173,Rare bone disease +GARD:0021569,GARD:0022531,GARD:0021567,GARD:0000085,Rare genetic disease +GARD:0021569,GARD:0022531,GARD:0021567,GARD:0006275,Rare genetic disease +GARD:0021569,GARD:0022513,GARD:0021567,GARD:0009443,Rare developmental defect during embryogenesis +GARD:0021569,GARD:0022511,GARD:0021567,GARD:0006724,Rare bone disease +GARD:0021569,GARD:0022511,GARD:0021567,GARD:0016565,Rare bone disease +GARD:0021569,GARD:0022513,GARD:0021567,GARD:0006275,Rare developmental defect during embryogenesis +GARD:0021569,GARD:0022531,GARD:0021567,GARD:0009443,Rare genetic disease +GARD:0021569,GARD:0022513,GARD:0021567,GARD:0000085,Rare developmental defect during embryogenesis +GARD:0021569,GARD:0022513,GARD:0021567,GARD:0008173,Rare developmental defect during embryogenesis +GARD:0021569,GARD:0022511,GARD:0021567,GARD:0000085,Rare bone disease +GARD:0021569,GARD:0022511,GARD:0021567,GARD:0009443,Rare bone disease +GARD:0021569,GARD:0022513,GARD:0021567,GARD:0016565,Rare developmental defect during embryogenesis +GARD:0021569,GARD:0022531,GARD:0021567,GARD:0016565,Rare genetic disease +GARD:0021569,GARD:0022531,GARD:0021567,GARD:0006724,Rare genetic disease +GARD:0021569,GARD:0022531,GARD:0021567,GARD:0008173,Rare genetic disease +GARD:0021569,GARD:0022513,GARD:0021567,GARD:0006724,Rare developmental defect during embryogenesis +GARD:0021569,GARD:0022511,GARD:0021567,GARD:0006275,Rare bone disease +GARD:0021570,GARD:0022531,GARD:0019190,GARD:0000826,Rare genetic disease +GARD:0021570,GARD:0022531,GARD:0019190,GARD:0005802,Rare genetic disease +GARD:0021570,GARD:0022531,GARD:0021567,GARD:0000826,Rare genetic disease +GARD:0021570,GARD:0022513,GARD:0021567,GARD:0005121,Rare developmental defect during embryogenesis +GARD:0021570,GARD:0022531,GARD:0021567,GARD:0005121,Rare genetic disease +GARD:0021570,GARD:0022511,GARD:0021567,GARD:0005802,Rare bone disease +GARD:0021570,GARD:0022531,GARD:0021567,GARD:0007011,Rare genetic disease +GARD:0021570,GARD:0022511,GARD:0021567,GARD:0000826,Rare bone disease +GARD:0021570,GARD:0022531,GARD:0019190,GARD:0005121,Rare genetic disease +GARD:0021570,GARD:0022511,GARD:0021567,GARD:0005121,Rare bone disease +GARD:0021570,GARD:0022511,GARD:0021567,GARD:0007011,Rare bone disease +GARD:0021570,GARD:0022531,GARD:0021567,GARD:0005802,Rare genetic disease +GARD:0021570,GARD:0022513,GARD:0021567,GARD:0007011,Rare developmental defect during embryogenesis +GARD:0021570,GARD:0022511,GARD:0021567,GARD:0005138,Rare bone disease +GARD:0021570,GARD:0022513,GARD:0021567,GARD:0000826,Rare developmental defect during embryogenesis +GARD:0021570,GARD:0022531,GARD:0021567,GARD:0005138,Rare genetic disease +GARD:0021570,GARD:0022513,GARD:0021567,GARD:0005138,Rare developmental defect during embryogenesis +GARD:0021570,GARD:0022531,GARD:0019190,GARD:0005138,Rare genetic disease +GARD:0021570,GARD:0022513,GARD:0021567,GARD:0005802,Rare developmental defect during embryogenesis +GARD:0021570,GARD:0022531,GARD:0019190,GARD:0007011,Rare genetic disease +GARD:0021571,GARD:0022513,GARD:0019901,GARD:0019208,Rare developmental defect during embryogenesis +GARD:0021571,GARD:0022513,GARD:0019901,GARD:0006209,Rare developmental defect during embryogenesis +GARD:0021571,GARD:0022511,GARD:0022511,GARD:0021572,Rare bone disease +GARD:0021571,GARD:0022513,GARD:0019901,GARD:0016673,Rare developmental defect during embryogenesis +GARD:0021571,GARD:0022513,GARD:0019901,GARD:0019207,Rare developmental defect during embryogenesis +GARD:0021571,GARD:0022513,GARD:0019901,GARD:0021572,Rare developmental defect during embryogenesis +GARD:0021571,GARD:0022511,GARD:0022511,GARD:0016673,Rare bone disease +GARD:0021571,GARD:0022513,GARD:0019901,GARD:0019209,Rare developmental defect during embryogenesis +GARD:0021571,GARD:0022511,GARD:0022511,GARD:0019207,Rare bone disease +GARD:0021571,GARD:0022511,GARD:0022511,GARD:0019208,Rare bone disease +GARD:0021571,GARD:0022511,GARD:0022511,GARD:0019209,Rare bone disease +GARD:0021571,GARD:0022511,GARD:0022511,GARD:0006209,Rare bone disease +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0010573,Rare bone disease +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0004170,Rare bone disease +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0018895,Rare bone disease +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0021566,Rare bone disease +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0005128,Rare bone disease +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0004638,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0020573,Rare bone disease +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0017093,Rare bone disease +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0001064,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0021188,Rare bone disease +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0017093,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0022030,Rare bone disease +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0000216,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0004638,Rare bone disease +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0021573,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0019211,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0019211,Rare bone disease +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0021183,Rare bone disease +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0019212,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0001064,Rare bone disease +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0021573,Rare bone disease +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0018895,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0021566,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0020015,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0021186,Rare bone disease +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0010573,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0022030,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0019212,Rare bone disease +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0020573,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0020015,Rare bone disease +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0004170,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0019210,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0005128,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0019210,Rare bone disease +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0021188,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0000216,Rare bone disease +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0021186,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022511,GARD:0021571,GARD:0021187,Rare bone disease +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0021187,Rare developmental defect during embryogenesis +GARD:0021572,GARD:0022513,GARD:0021571,GARD:0021183,Rare developmental defect during embryogenesis +GARD:0021573,GARD:0022531,GARD:0021726,GARD:0004116,Rare genetic disease +GARD:0021573,GARD:0022513,GARD:0021572,GARD:0017094,Rare developmental defect during embryogenesis +GARD:0021573,GARD:0022513,GARD:0021572,GARD:0004116,Rare developmental defect during embryogenesis +GARD:0021573,GARD:0022513,GARD:0021572,GARD:0021574,Rare developmental defect during embryogenesis +GARD:0021573,GARD:0022511,GARD:0021572,GARD:0004116,Rare bone disease +GARD:0021573,GARD:0022531,GARD:0021726,GARD:0021574,Rare genetic disease +GARD:0021573,GARD:0022531,GARD:0021726,GARD:0017094,Rare genetic disease +GARD:0021573,GARD:0022511,GARD:0021572,GARD:0017094,Rare bone disease +GARD:0021573,GARD:0022511,GARD:0021572,GARD:0021574,Rare bone disease +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0000499,Rare genetic disease +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0000484,Rare bone disease +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0000496,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0000484,Rare genetic disease +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0004260,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0017300,Rare bone disease +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0000497,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0000496,Rare genetic disease +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0010056,Rare genetic disease +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0001002,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0000498,Rare bone disease +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0001578,Rare bone disease +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0018859,Rare genetic disease +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0010056,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0005539,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0000498,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0000497,Rare bone disease +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0004260,Rare genetic disease +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0000497,Rare genetic disease +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0018859,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0004718,Rare genetic disease +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0004718,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0000499,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0001002,Rare bone disease +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0001002,Rare genetic disease +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0000494,Rare genetic disease +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0005539,Rare genetic disease +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0003075,Rare bone disease +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0010056,Rare bone disease +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0017300,Rare genetic disease +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0008410,Rare genetic disease +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0000499,Rare bone disease +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0008410,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0004260,Rare bone disease +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0008410,Rare bone disease +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0005539,Rare bone disease +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0003075,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0001578,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0000498,Rare genetic disease +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0000484,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0000496,Rare bone disease +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0003075,Rare genetic disease +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0018859,Rare bone disease +GARD:0021574,GARD:0022531,GARD:0021573,GARD:0001578,Rare genetic disease +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0004718,Rare bone disease +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0017300,Rare developmental defect during embryogenesis +GARD:0021574,GARD:0022511,GARD:0021573,GARD:0000494,Rare bone disease +GARD:0021574,GARD:0022513,GARD:0021573,GARD:0000494,Rare developmental defect during embryogenesis +GARD:0021575,GARD:0022531,GARD:0020288,GARD:0021577,Rare genetic disease +GARD:0021575,GARD:0022531,GARD:0020288,GARD:0021609,Rare genetic disease +GARD:0021575,GARD:0022531,GARD:0020288,GARD:0019188,Rare genetic disease +GARD:0021575,GARD:0022531,GARD:0020288,GARD:0019189,Rare genetic disease +GARD:0021575,GARD:0022531,GARD:0020288,GARD:0021576,Rare genetic disease +GARD:0021575,GARD:0022531,GARD:0020288,GARD:0016822,Rare genetic disease +GARD:0021575,GARD:0022531,GARD:0020288,GARD:0019185,Rare genetic disease +GARD:0021575,GARD:0022531,GARD:0020288,GARD:0019187,Rare genetic disease +GARD:0021575,GARD:0022531,GARD:0020288,GARD:0019186,Rare genetic disease +GARD:0021575,GARD:0022531,GARD:0020288,GARD:0019190,Rare genetic disease +GARD:0021576,GARD:0022531,GARD:0021575,GARD:0016814,Rare genetic disease +GARD:0021576,GARD:0022531,GARD:0021575,GARD:0017717,Rare genetic disease +GARD:0021576,GARD:0022531,GARD:0021575,GARD:0010513,Rare genetic disease +GARD:0021576,GARD:0022531,GARD:0021575,GARD:0004133,Rare genetic disease +GARD:0021577,GARD:0022531,GARD:0021575,GARD:0004222,Rare genetic disease +GARD:0021577,GARD:0022531,GARD:0021575,GARD:0010429,Rare genetic disease +GARD:0021577,GARD:0022531,GARD:0021575,GARD:0003047,Rare genetic disease +GARD:0021577,GARD:0022531,GARD:0021575,GARD:0000994,Rare genetic disease +GARD:0021577,GARD:0022531,GARD:0021575,GARD:0016735,Rare genetic disease +GARD:0021577,GARD:0022531,GARD:0021575,GARD:0003571,Rare genetic disease +GARD:0021578,GARD:0022516,GARD:0001502,GARD:0000140,Rare gastroenterologic disease +GARD:0021578,GARD:0022531,GARD:0020060,GARD:0016592,Rare genetic disease +GARD:0021578,GARD:0022536,GARD:0001502,GARD:0008661,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021578,GARD:0022516,GARD:0001502,GARD:0008661,Rare gastroenterologic disease +GARD:0021578,GARD:0022516,GARD:0001502,GARD:0016592,Rare gastroenterologic disease +GARD:0021578,GARD:0022536,GARD:0001502,GARD:0000140,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021578,GARD:0022536,GARD:0001502,GARD:0016592,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021578,GARD:0022531,GARD:0020060,GARD:0000140,Rare genetic disease +GARD:0021579,GARD:0022524,GARD:0021270,,Rare neurologic disease +GARD:0021579,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0021579,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0021579,GARD:0022531,GARD:0020287,,Rare genetic disease +GARD:0021580,GARD:0022531,GARD:0019439,,Rare genetic disease +GARD:0021580,GARD:0022521,GARD:0019439,,Rare endocrine disease +GARD:0021581,GARD:0022513,GARD:0021582,,Rare developmental defect during embryogenesis +GARD:0021581,GARD:0022531,GARD:0021582,,Rare genetic disease +GARD:0021582,GARD:0022531,GARD:0020807,GARD:0021581,Rare genetic disease +GARD:0021582,GARD:0022531,GARD:0020807,GARD:0020634,Rare genetic disease +GARD:0021582,GARD:0022513,GARD:0020807,GARD:0021581,Rare developmental defect during embryogenesis +GARD:0021582,GARD:0022513,GARD:0020807,GARD:0020634,Rare developmental defect during embryogenesis +GARD:0021583,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021583,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0021583,GARD:0022513,GARD:0020906,,Rare developmental defect during embryogenesis +GARD:0021583,GARD:0022531,GARD:0020906,,Rare genetic disease +GARD:0021583,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0021583,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021583,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021583,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0021584,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0021584,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0021584,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0021585,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021585,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021585,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021586,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0021586,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0021586,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0021587,GARD:0022531,GARD:0018685,,Rare genetic disease +GARD:0021587,GARD:0022513,GARD:0018685,,Rare developmental defect during embryogenesis +GARD:0021587,GARD:0022511,GARD:0018685,,Rare bone disease +GARD:0021588,GARD:0022522,GARD:0012758,,Rare hematologic disease +GARD:0021588,GARD:0022535,GARD:0012758,,Rare neoplastic disease +GARD:0021588,GARD:0022536,GARD:0012758,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021589,GARD:0022531,GARD:0019691,,Rare genetic disease +GARD:0021589,GARD:0022531,GARD:0020285,,Rare genetic disease +GARD:0021589,GARD:0022513,GARD:0019691,,Rare developmental defect during embryogenesis +GARD:0021589,GARD:0022524,GARD:0019691,,Rare neurologic disease +GARD:0021590,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0021590,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0021591,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0021591,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0021592,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0021592,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0021593,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0021593,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0021594,GARD:0022505,GARD:0020701,GARD:0004315,Rare teratologic disease +GARD:0021594,GARD:0022513,GARD:0020701,GARD:0004315,Rare developmental defect during embryogenesis +GARD:0021594,GARD:0022505,GARD:0020701,GARD:0021595,Rare teratologic disease +GARD:0021594,GARD:0022533,GARD:0020701,GARD:0005447,Rare disorder due to toxic effects +GARD:0021594,GARD:0022533,GARD:0020701,GARD:0004315,Rare disorder due to toxic effects +GARD:0021594,GARD:0022513,GARD:0020701,GARD:0021595,Rare developmental defect during embryogenesis +GARD:0021594,GARD:0022533,GARD:0020701,GARD:0021595,Rare disorder due to toxic effects +GARD:0021594,GARD:0022513,GARD:0020701,GARD:0006435,Rare developmental defect during embryogenesis +GARD:0021594,GARD:0022513,GARD:0020701,GARD:0005447,Rare developmental defect during embryogenesis +GARD:0021594,GARD:0022513,GARD:0020701,GARD:0018750,Rare developmental defect during embryogenesis +GARD:0021594,GARD:0022505,GARD:0020701,GARD:0005447,Rare teratologic disease +GARD:0021594,GARD:0022533,GARD:0020701,GARD:0006435,Rare disorder due to toxic effects +GARD:0021594,GARD:0022533,GARD:0020701,GARD:0018750,Rare disorder due to toxic effects +GARD:0021594,GARD:0022505,GARD:0020701,GARD:0018750,Rare teratologic disease +GARD:0021594,GARD:0022505,GARD:0020701,GARD:0006435,Rare teratologic disease +GARD:0021595,GARD:0022513,GARD:0021594,,Rare developmental defect during embryogenesis +GARD:0021595,GARD:0022505,GARD:0021594,,Rare teratologic disease +GARD:0021595,GARD:0022533,GARD:0021594,,Rare disorder due to toxic effects +GARD:0021596,GARD:0022524,GARD:0018882,GARD:0009818,Rare neurologic disease +GARD:0021596,GARD:0022531,GARD:0021630,GARD:0013111,Rare genetic disease +GARD:0021596,GARD:0022531,GARD:0021630,GARD:0022396,Rare genetic disease +GARD:0021596,GARD:0022531,GARD:0021630,GARD:0005592,Rare genetic disease +GARD:0021596,GARD:0022531,GARD:0021630,GARD:0017592,Rare genetic disease +GARD:0021596,GARD:0022524,GARD:0018882,GARD:0022396,Rare neurologic disease +GARD:0021596,GARD:0022524,GARD:0018882,GARD:0013111,Rare neurologic disease +GARD:0021596,GARD:0022524,GARD:0018882,GARD:0017918,Rare neurologic disease +GARD:0021596,GARD:0022531,GARD:0021630,GARD:0009818,Rare genetic disease +GARD:0021596,GARD:0022524,GARD:0018882,GARD:0007893,Rare neurologic disease +GARD:0021596,GARD:0022524,GARD:0018882,GARD:0005592,Rare neurologic disease +GARD:0021596,GARD:0022524,GARD:0018882,GARD:0017592,Rare neurologic disease +GARD:0021596,GARD:0022531,GARD:0021630,GARD:0007893,Rare genetic disease +GARD:0021596,GARD:0022531,GARD:0021630,GARD:0017918,Rare genetic disease +GARD:0021597,GARD:0022524,GARD:0021628,,Rare neurologic disease +GARD:0021597,GARD:0022531,GARD:0021628,,Rare genetic disease +GARD:0021598,GARD:0022522,GARD:0019469,,Rare hematologic disease +GARD:0021598,GARD:0022531,GARD:0019469,,Rare genetic disease +GARD:0021599,GARD:0022508,GARD:0021337,,Rare inborn errors of metabolism +GARD:0021599,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021599,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0021599,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021599,GARD:0022513,GARD:0012782,,Rare developmental defect during embryogenesis +GARD:0021599,GARD:0022531,GARD:0021337,,Rare genetic disease +GARD:0021599,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0021599,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021599,GARD:0022531,GARD:0012782,,Rare genetic disease +GARD:0021600,GARD:0022531,GARD:0009138,,Rare genetic disease +GARD:0021600,GARD:0022524,GARD:0009138,,Rare neurologic disease +GARD:0021601,GARD:0022531,GARD:0020388,GARD:0021602,Rare genetic disease +GARD:0021601,GARD:0022531,GARD:0020388,GARD:0020402,Rare genetic disease +GARD:0021602,GARD:0022531,GARD:0021601,GARD:0012541,Rare genetic disease +GARD:0021602,GARD:0022531,GARD:0021601,GARD:0017608,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0009679,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0009679,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0012535,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0017539,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0010226,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0009493,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0012540,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0009834,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0012397,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0012544,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0012535,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0012395,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0012413,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0012348,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0021604,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0017519,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0012348,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0017519,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0012538,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0009828,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0017606,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0002167,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0017607,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0012398,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0009833,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0012398,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0017607,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0021604,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0009493,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0012539,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0017605,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0008486,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0009833,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0012417,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0009841,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0009828,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0012538,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0002167,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0021599,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0017606,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0017539,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0012395,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0010944,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0012541,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0012417,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0021599,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0012533,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0012413,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0012539,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0008422,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0012533,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0017720,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0022271,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0012544,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0010226,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0012541,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0009841,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0009834,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0010944,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0017605,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0012540,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0012397,Rare neurologic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0008422,Rare neurologic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0017720,Rare genetic disease +GARD:0021603,GARD:0022531,GARD:0018890,GARD:0022271,Rare genetic disease +GARD:0021603,GARD:0022524,GARD:0018890,GARD:0008486,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0017836,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0017603,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0010767,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0012416,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0012396,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0017603,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0009829,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0012412,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0000310,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0012411,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0009965,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0012405,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0009836,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0012409,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0012409,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0009839,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0009831,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0009839,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0012403,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0012412,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0004634,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0012394,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0009832,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0009838,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0012409,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0006475,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0012781,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0012394,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0009836,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0009827,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0012059,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0012781,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0009837,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0009826,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0009832,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0009842,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0012416,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0017603,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0010767,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0017602,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0001638,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0009829,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0009832,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0010767,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0012401,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0012405,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0006475,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0009837,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0009826,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0017604,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0017603,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0012777,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0009827,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0006475,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0012059,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0004634,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0012781,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0017897,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0009965,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0009827,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0009836,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0012401,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0012401,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0017897,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0000156,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0012403,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0009837,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0001638,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0012411,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0012396,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0004634,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0002599,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0017604,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0017836,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0009829,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0009839,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0000310,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0012403,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0012411,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0009838,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0017604,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0012396,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0012416,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0010767,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0012777,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0012403,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0012416,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0009826,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0012394,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0017836,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0009836,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0012059,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0001638,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0012396,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0000310,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0009831,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0009829,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0017897,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0009832,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0012059,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0000156,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0009831,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0012405,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0009837,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0009842,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0012412,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0017602,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0017602,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0017836,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0012412,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0002599,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0012394,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0009826,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0009842,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0012409,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0009842,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0001638,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0000310,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0017604,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0002599,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0012777,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0000156,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0009827,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0000156,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0009838,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0021603,GARD:0009965,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0012405,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0012781,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0017602,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0006475,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0021603,GARD:0012411,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0012401,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0009839,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0017897,Rare genetic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0004634,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0002599,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0009965,Rare neurologic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0009831,Rare neurologic disease +GARD:0021604,GARD:0022531,GARD:0020089,GARD:0009838,Rare genetic disease +GARD:0021604,GARD:0022524,GARD:0020089,GARD:0012777,Rare neurologic disease +GARD:0021605,GARD:0022506,GARD:0019790,GARD:0009834,Rare hepatic disease +GARD:0021605,GARD:0022531,GARD:0019790,GARD:0012398,Rare genetic disease +GARD:0021605,GARD:0022531,GARD:0019790,GARD:0009834,Rare genetic disease +GARD:0021605,GARD:0022506,GARD:0019790,GARD:0009841,Rare hepatic disease +GARD:0021605,GARD:0022506,GARD:0019790,GARD:0009830,Rare hepatic disease +GARD:0021605,GARD:0022531,GARD:0019790,GARD:0004329,Rare genetic disease +GARD:0021605,GARD:0022506,GARD:0019790,GARD:0012398,Rare hepatic disease +GARD:0021605,GARD:0022531,GARD:0019790,GARD:0010767,Rare genetic disease +GARD:0021605,GARD:0022506,GARD:0019790,GARD:0012412,Rare hepatic disease +GARD:0021605,GARD:0022531,GARD:0019790,GARD:0012413,Rare genetic disease +GARD:0021605,GARD:0022506,GARD:0019790,GARD:0009839,Rare hepatic disease +GARD:0021605,GARD:0022531,GARD:0019790,GARD:0012401,Rare genetic disease +GARD:0021605,GARD:0022506,GARD:0019790,GARD:0012416,Rare hepatic disease +GARD:0021605,GARD:0022506,GARD:0019790,GARD:0012401,Rare hepatic disease +GARD:0021605,GARD:0022531,GARD:0019790,GARD:0012394,Rare genetic disease +GARD:0021605,GARD:0022506,GARD:0019790,GARD:0004329,Rare hepatic disease +GARD:0021605,GARD:0022531,GARD:0019790,GARD:0009839,Rare genetic disease +GARD:0021605,GARD:0022506,GARD:0019790,GARD:0012413,Rare hepatic disease +GARD:0021605,GARD:0022506,GARD:0019790,GARD:0012394,Rare hepatic disease +GARD:0021605,GARD:0022531,GARD:0019790,GARD:0012416,Rare genetic disease +GARD:0021605,GARD:0022506,GARD:0019790,GARD:0009836,Rare hepatic disease +GARD:0021605,GARD:0022531,GARD:0019790,GARD:0009836,Rare genetic disease +GARD:0021605,GARD:0022506,GARD:0019790,GARD:0009826,Rare hepatic disease +GARD:0021605,GARD:0022506,GARD:0019790,GARD:0010767,Rare hepatic disease +GARD:0021605,GARD:0022531,GARD:0019790,GARD:0012412,Rare genetic disease +GARD:0021605,GARD:0022531,GARD:0019790,GARD:0009826,Rare genetic disease +GARD:0021605,GARD:0022531,GARD:0019790,GARD:0009830,Rare genetic disease +GARD:0021605,GARD:0022531,GARD:0019790,GARD:0009841,Rare genetic disease +GARD:0021606,GARD:0022515,GARD:0020525,GARD:0004329,Rare cardiac disease +GARD:0021606,GARD:0022536,GARD:0022065,GARD:0012393,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021606,GARD:0022515,GARD:0020525,GARD:0012538,Rare cardiac disease +GARD:0021606,GARD:0022531,GARD:0020525,GARD:0012538,Rare genetic disease +GARD:0021606,GARD:0022515,GARD:0020525,GARD:0012395,Rare cardiac disease +GARD:0021606,GARD:0022536,GARD:0022065,GARD:0012538,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021606,GARD:0022515,GARD:0020525,GARD:0012393,Rare cardiac disease +GARD:0021606,GARD:0022536,GARD:0022065,GARD:0012395,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021606,GARD:0022531,GARD:0020525,GARD:0012395,Rare genetic disease +GARD:0021606,GARD:0022536,GARD:0022065,GARD:0004329,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021606,GARD:0022531,GARD:0020525,GARD:0012393,Rare genetic disease +GARD:0021606,GARD:0022531,GARD:0020525,GARD:0004329,Rare genetic disease +GARD:0021607,GARD:0022531,GARD:0012782,GARD:0000310,Rare genetic disease +GARD:0021607,GARD:0022513,GARD:0020003,GARD:0008422,Rare developmental defect during embryogenesis +GARD:0021607,GARD:0022531,GARD:0012782,GARD:0017308,Rare genetic disease +GARD:0021607,GARD:0022519,GARD:0020003,GARD:0008486,Rare surgical cardiac disease +GARD:0021607,GARD:0022519,GARD:0020003,GARD:0000310,Rare surgical cardiac disease +GARD:0021607,GARD:0022513,GARD:0020003,GARD:0009842,Rare developmental defect during embryogenesis +GARD:0021607,GARD:0022519,GARD:0020003,GARD:0009842,Rare surgical cardiac disease +GARD:0021607,GARD:0022531,GARD:0012782,GARD:0008422,Rare genetic disease +GARD:0021607,GARD:0022513,GARD:0012782,GARD:0010226,Rare developmental defect during embryogenesis +GARD:0021607,GARD:0022513,GARD:0020003,GARD:0017308,Rare developmental defect during embryogenesis +GARD:0021607,GARD:0022531,GARD:0020003,GARD:0009842,Rare genetic disease +GARD:0021607,GARD:0022513,GARD:0020003,GARD:0010226,Rare developmental defect during embryogenesis +GARD:0021607,GARD:0022513,GARD:0020003,GARD:0009828,Rare developmental defect during embryogenesis +GARD:0021607,GARD:0022531,GARD:0012782,GARD:0008486,Rare genetic disease +GARD:0021607,GARD:0022531,GARD:0012782,GARD:0009842,Rare genetic disease +GARD:0021607,GARD:0022513,GARD:0012782,GARD:0008486,Rare developmental defect during embryogenesis +GARD:0021607,GARD:0022513,GARD:0012782,GARD:0009842,Rare developmental defect during embryogenesis +GARD:0021607,GARD:0022519,GARD:0020003,GARD:0009828,Rare surgical cardiac disease +GARD:0021607,GARD:0022531,GARD:0020003,GARD:0008422,Rare genetic disease +GARD:0021607,GARD:0022531,GARD:0012782,GARD:0009828,Rare genetic disease +GARD:0021607,GARD:0022531,GARD:0020003,GARD:0008486,Rare genetic disease +GARD:0021607,GARD:0022519,GARD:0020003,GARD:0008422,Rare surgical cardiac disease +GARD:0021607,GARD:0022531,GARD:0020003,GARD:0000310,Rare genetic disease +GARD:0021607,GARD:0022513,GARD:0012782,GARD:0017308,Rare developmental defect during embryogenesis +GARD:0021607,GARD:0022513,GARD:0020003,GARD:0008486,Rare developmental defect during embryogenesis +GARD:0021607,GARD:0022513,GARD:0012782,GARD:0009828,Rare developmental defect during embryogenesis +GARD:0021607,GARD:0022531,GARD:0020003,GARD:0010226,Rare genetic disease +GARD:0021607,GARD:0022513,GARD:0012782,GARD:0000310,Rare developmental defect during embryogenesis +GARD:0021607,GARD:0022519,GARD:0020003,GARD:0010226,Rare surgical cardiac disease +GARD:0021607,GARD:0022519,GARD:0020003,GARD:0017308,Rare surgical cardiac disease +GARD:0021607,GARD:0022513,GARD:0012782,GARD:0008422,Rare developmental defect during embryogenesis +GARD:0021607,GARD:0022513,GARD:0020003,GARD:0000310,Rare developmental defect during embryogenesis +GARD:0021607,GARD:0022531,GARD:0020003,GARD:0017308,Rare genetic disease +GARD:0021607,GARD:0022531,GARD:0020003,GARD:0009828,Rare genetic disease +GARD:0021607,GARD:0022531,GARD:0012782,GARD:0010226,Rare genetic disease +GARD:0021608,GARD:0022516,GARD:0019850,GARD:0009829,Rare gastroenterologic disease +GARD:0021608,GARD:0022516,GARD:0019850,GARD:0009830,Rare gastroenterologic disease +GARD:0021608,GARD:0022531,GARD:0019850,GARD:0009830,Rare genetic disease +GARD:0021608,GARD:0022531,GARD:0019850,GARD:0009834,Rare genetic disease +GARD:0021608,GARD:0022516,GARD:0019850,GARD:0009834,Rare gastroenterologic disease +GARD:0021608,GARD:0022531,GARD:0019850,GARD:0009829,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0012782,GARD:0009991,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0021575,GARD:0017584,Rare genetic disease +GARD:0021609,GARD:0022513,GARD:0012782,GARD:0017188,Rare developmental defect during embryogenesis +GARD:0021609,GARD:0022531,GARD:0021575,GARD:0017308,Rare genetic disease +GARD:0021609,GARD:0022513,GARD:0012782,GARD:0009679,Rare developmental defect during embryogenesis +GARD:0021609,GARD:0022531,GARD:0012782,GARD:0004982,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0012782,GARD:0009679,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0012782,GARD:0012413,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0021575,GARD:0001638,Rare genetic disease +GARD:0021609,GARD:0022513,GARD:0012782,GARD:0001638,Rare developmental defect during embryogenesis +GARD:0021609,GARD:0022531,GARD:0021575,GARD:0004982,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0012782,GARD:0017974,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0012782,GARD:0007035,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0021575,GARD:0017974,Rare genetic disease +GARD:0021609,GARD:0022513,GARD:0012782,GARD:0013169,Rare developmental defect during embryogenesis +GARD:0021609,GARD:0022531,GARD:0012782,GARD:0013169,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0012782,GARD:0000169,Rare genetic disease +GARD:0021609,GARD:0022513,GARD:0012782,GARD:0006798,Rare developmental defect during embryogenesis +GARD:0021609,GARD:0022531,GARD:0012782,GARD:0006798,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0012782,GARD:0017188,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0012782,GARD:0001638,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0021575,GARD:0010226,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0021575,GARD:0009679,Rare genetic disease +GARD:0021609,GARD:0022513,GARD:0012782,GARD:0017308,Rare developmental defect during embryogenesis +GARD:0021609,GARD:0022513,GARD:0012782,GARD:0010226,Rare developmental defect during embryogenesis +GARD:0021609,GARD:0022513,GARD:0012782,GARD:0007035,Rare developmental defect during embryogenesis +GARD:0021609,GARD:0022531,GARD:0021575,GARD:0013169,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0021575,GARD:0012413,Rare genetic disease +GARD:0021609,GARD:0022513,GARD:0012782,GARD:0004982,Rare developmental defect during embryogenesis +GARD:0021609,GARD:0022531,GARD:0021575,GARD:0006798,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0012782,GARD:0017308,Rare genetic disease +GARD:0021609,GARD:0022513,GARD:0012782,GARD:0000169,Rare developmental defect during embryogenesis +GARD:0021609,GARD:0022531,GARD:0021575,GARD:0000169,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0012782,GARD:0017584,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0012782,GARD:0010226,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0021575,GARD:0017188,Rare genetic disease +GARD:0021609,GARD:0022531,GARD:0021575,GARD:0007035,Rare genetic disease +GARD:0021609,GARD:0022513,GARD:0012782,GARD:0009991,Rare developmental defect during embryogenesis +GARD:0021609,GARD:0022531,GARD:0021575,GARD:0009991,Rare genetic disease +GARD:0021609,GARD:0022513,GARD:0012782,GARD:0017974,Rare developmental defect during embryogenesis +GARD:0021609,GARD:0022513,GARD:0012782,GARD:0017584,Rare developmental defect during embryogenesis +GARD:0021609,GARD:0022513,GARD:0012782,GARD:0012413,Rare developmental defect during embryogenesis +GARD:0021610,GARD:0022510,GARD:0019015,GARD:0004982,Rare skin disease +GARD:0021610,GARD:0022510,GARD:0019015,GARD:0012393,Rare skin disease +GARD:0021610,GARD:0022510,GARD:0019015,GARD:0012059,Rare skin disease +GARD:0021610,GARD:0022510,GARD:0019015,GARD:0012397,Rare skin disease +GARD:0021610,GARD:0022531,GARD:0019015,GARD:0009832,Rare genetic disease +GARD:0021610,GARD:0022531,GARD:0019015,GARD:0004982,Rare genetic disease +GARD:0021610,GARD:0022510,GARD:0019015,GARD:0008486,Rare skin disease +GARD:0021610,GARD:0022510,GARD:0019015,GARD:0009775,Rare skin disease +GARD:0021610,GARD:0022531,GARD:0019015,GARD:0010879,Rare genetic disease +GARD:0021610,GARD:0022531,GARD:0019015,GARD:0012393,Rare genetic disease +GARD:0021610,GARD:0022510,GARD:0019015,GARD:0009826,Rare skin disease +GARD:0021610,GARD:0022510,GARD:0019015,GARD:0010879,Rare skin disease +GARD:0021610,GARD:0022531,GARD:0019015,GARD:0008486,Rare genetic disease +GARD:0021610,GARD:0022510,GARD:0019015,GARD:0009842,Rare skin disease +GARD:0021610,GARD:0022531,GARD:0019015,GARD:0009842,Rare genetic disease +GARD:0021610,GARD:0022510,GARD:0019015,GARD:0009832,Rare skin disease +GARD:0021610,GARD:0022531,GARD:0019015,GARD:0012059,Rare genetic disease +GARD:0021610,GARD:0022510,GARD:0019015,GARD:0000310,Rare skin disease +GARD:0021610,GARD:0022531,GARD:0019015,GARD:0000310,Rare genetic disease +GARD:0021610,GARD:0022531,GARD:0019015,GARD:0009826,Rare genetic disease +GARD:0021610,GARD:0022531,GARD:0019015,GARD:0012397,Rare genetic disease +GARD:0021610,GARD:0022510,GARD:0019015,GARD:0001638,Rare skin disease +GARD:0021610,GARD:0022531,GARD:0019015,GARD:0009775,Rare genetic disease +GARD:0021610,GARD:0022531,GARD:0019015,GARD:0001638,Rare genetic disease +GARD:0021611,GARD:0022531,GARD:0019229,GARD:0009834,Rare genetic disease +GARD:0021611,GARD:0022512,GARD:0019229,GARD:0012409,Rare renal disease +GARD:0021611,GARD:0022531,GARD:0019229,GARD:0012409,Rare genetic disease +GARD:0021611,GARD:0022531,GARD:0019229,GARD:0008486,Rare genetic disease +GARD:0021611,GARD:0022512,GARD:0019229,GARD:0008486,Rare renal disease +GARD:0021611,GARD:0022512,GARD:0019229,GARD:0009834,Rare renal disease +GARD:0021612,GARD:0022513,GARD:0012782,GARD:0010226,Rare developmental defect during embryogenesis +GARD:0021612,GARD:0022513,GARD:0019145,GARD:0000310,Rare developmental defect during embryogenesis +GARD:0021612,GARD:0022513,GARD:0012782,GARD:0012394,Rare developmental defect during embryogenesis +GARD:0021612,GARD:0022513,GARD:0019145,GARD:0009679,Rare developmental defect during embryogenesis +GARD:0021612,GARD:0022531,GARD:0019145,GARD:0000310,Rare genetic disease +GARD:0021612,GARD:0022531,GARD:0019145,GARD:0010226,Rare genetic disease +GARD:0021612,GARD:0022528,GARD:0019145,GARD:0012394,Rare otorhinolaryngologic disease +GARD:0021612,GARD:0022513,GARD:0012782,GARD:0009679,Rare developmental defect during embryogenesis +GARD:0021612,GARD:0022531,GARD:0012782,GARD:0010226,Rare genetic disease +GARD:0021612,GARD:0022531,GARD:0019145,GARD:0012394,Rare genetic disease +GARD:0021612,GARD:0022531,GARD:0019145,GARD:0009679,Rare genetic disease +GARD:0021612,GARD:0022531,GARD:0012782,GARD:0000310,Rare genetic disease +GARD:0021612,GARD:0022513,GARD:0019145,GARD:0012394,Rare developmental defect during embryogenesis +GARD:0021612,GARD:0022528,GARD:0019145,GARD:0009679,Rare otorhinolaryngologic disease +GARD:0021612,GARD:0022531,GARD:0012782,GARD:0009679,Rare genetic disease +GARD:0021612,GARD:0022528,GARD:0019145,GARD:0000310,Rare otorhinolaryngologic disease +GARD:0021612,GARD:0022528,GARD:0019145,GARD:0010226,Rare otorhinolaryngologic disease +GARD:0021612,GARD:0022531,GARD:0012782,GARD:0012394,Rare genetic disease +GARD:0021612,GARD:0022513,GARD:0012782,GARD:0000310,Rare developmental defect during embryogenesis +GARD:0021612,GARD:0022513,GARD:0019145,GARD:0010226,Rare developmental defect during embryogenesis +GARD:0021613,GARD:0022531,GARD:0020358,GARD:0006729,Rare genetic disease +GARD:0021613,GARD:0022531,GARD:0020358,GARD:0000195,Rare genetic disease +GARD:0021613,GARD:0022531,GARD:0020358,GARD:0021634,Rare genetic disease +GARD:0021613,GARD:0022531,GARD:0020358,GARD:0021635,Rare genetic disease +GARD:0021613,GARD:0022531,GARD:0020358,GARD:0009453,Rare genetic disease +GARD:0021614,GARD:0022531,GARD:0020281,GARD:0005467,Rare genetic disease +GARD:0021614,GARD:0022531,GARD:0020281,GARD:0006626,Rare genetic disease +GARD:0021614,GARD:0022531,GARD:0020281,GARD:0003020,Rare genetic disease +GARD:0021614,GARD:0022531,GARD:0020281,GARD:0016728,Rare genetic disease +GARD:0021614,GARD:0022531,GARD:0020281,GARD:0018908,Rare genetic disease +GARD:0021614,GARD:0022531,GARD:0020281,GARD:0008338,Rare genetic disease +GARD:0021614,GARD:0022531,GARD:0020281,GARD:0000676,Rare genetic disease +GARD:0021614,GARD:0022531,GARD:0020281,GARD:0022145,Rare genetic disease +GARD:0021614,GARD:0022531,GARD:0020281,GARD:0017161,Rare genetic disease +GARD:0021614,GARD:0022531,GARD:0020281,GARD:0013641,Rare genetic disease +GARD:0021615,GARD:0022524,GARD:0020550,GARD:0007206,Rare neurologic disease +GARD:0021615,GARD:0022524,GARD:0020550,GARD:0002442,Rare neurologic disease +GARD:0021615,GARD:0022531,GARD:0020550,GARD:0006426,Rare genetic disease +GARD:0021615,GARD:0022524,GARD:0020550,GARD:0005061,Rare neurologic disease +GARD:0021615,GARD:0022531,GARD:0020550,GARD:0006400,Rare genetic disease +GARD:0021615,GARD:0022531,GARD:0020550,GARD:0003230,Rare genetic disease +GARD:0021615,GARD:0022524,GARD:0020550,GARD:0002443,Rare neurologic disease +GARD:0021615,GARD:0022524,GARD:0020550,GARD:0006400,Rare neurologic disease +GARD:0021615,GARD:0022531,GARD:0020550,GARD:0006844,Rare genetic disease +GARD:0021615,GARD:0022531,GARD:0020550,GARD:0005061,Rare genetic disease +GARD:0021615,GARD:0022524,GARD:0020550,GARD:0012505,Rare neurologic disease +GARD:0021615,GARD:0022524,GARD:0020550,GARD:0007207,Rare neurologic disease +GARD:0021615,GARD:0022531,GARD:0020550,GARD:0002442,Rare genetic disease +GARD:0021615,GARD:0022531,GARD:0020550,GARD:0012510,Rare genetic disease +GARD:0021615,GARD:0022524,GARD:0020550,GARD:0006426,Rare neurologic disease +GARD:0021615,GARD:0022531,GARD:0020550,GARD:0007206,Rare genetic disease +GARD:0021615,GARD:0022524,GARD:0020550,GARD:0022456,Rare neurologic disease +GARD:0021615,GARD:0022531,GARD:0020550,GARD:0002443,Rare genetic disease +GARD:0021615,GARD:0022524,GARD:0020550,GARD:0012510,Rare neurologic disease +GARD:0021615,GARD:0022524,GARD:0020550,GARD:0006844,Rare neurologic disease +GARD:0021615,GARD:0022531,GARD:0020550,GARD:0007207,Rare genetic disease +GARD:0021615,GARD:0022531,GARD:0020550,GARD:0012505,Rare genetic disease +GARD:0021615,GARD:0022524,GARD:0020550,GARD:0003230,Rare neurologic disease +GARD:0021616,GARD:0022531,GARD:0019095,GARD:0008407,Rare genetic disease +GARD:0021616,GARD:0022531,GARD:0019095,GARD:0001443,Rare genetic disease +GARD:0021616,GARD:0022531,GARD:0019095,GARD:0022076,Rare genetic disease +GARD:0021616,GARD:0022531,GARD:0019095,GARD:0000457,Rare genetic disease +GARD:0021616,GARD:0022531,GARD:0019095,GARD:0000456,Rare genetic disease +GARD:0021617,GARD:0022531,GARD:0020316,GARD:0020630,Rare genetic disease +GARD:0021617,GARD:0022531,GARD:0020316,GARD:0017591,Rare genetic disease +GARD:0021618,GARD:0022524,GARD:0019985,GARD:0009630,Rare neurologic disease +GARD:0021618,GARD:0022531,GARD:0019985,GARD:0002027,Rare genetic disease +GARD:0021618,GARD:0022531,GARD:0019985,GARD:0009630,Rare genetic disease +GARD:0021618,GARD:0022524,GARD:0019985,GARD:0002027,Rare neurologic disease +GARD:0021618,GARD:0022531,GARD:0019985,GARD:0017383,Rare genetic disease +GARD:0021618,GARD:0022524,GARD:0019985,GARD:0017383,Rare neurologic disease +GARD:0021619,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0021619,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0021619,GARD:0022531,GARD:0019436,,Rare genetic disease +GARD:0021619,GARD:0022524,GARD:0019436,,Rare neurologic disease +GARD:0021620,GARD:0022524,GARD:0019818,,Rare neurologic disease +GARD:0021620,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0021620,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0021621,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0021621,GARD:0022531,GARD:0020005,,Rare genetic disease +GARD:0021622,GARD:0022531,GARD:0018937,GARD:0017617,Rare genetic disease +GARD:0021622,GARD:0022508,GARD:0018937,GARD:0017617,Rare inborn errors of metabolism +GARD:0021623,GARD:0022524,GARD:0007122,,Rare neurologic disease +GARD:0021623,GARD:0022520,GARD:0007122,,Rare ophthalmic disorder +GARD:0021624,GARD:0022520,GARD:0007122,,Rare ophthalmic disorder +GARD:0021624,GARD:0022524,GARD:0007122,,Rare neurologic disease +GARD:0021625,GARD:0022524,GARD:0007122,,Rare neurologic disease +GARD:0021625,GARD:0021079,GARD:0021643,,Rare systemic or rheumatological disease of childhood +GARD:0021625,GARD:0022520,GARD:0007122,,Rare ophthalmic disorder +GARD:0021625,GARD:0022525,GARD:0021643,,Rare systemic or rheumatologic disease +GARD:0021626,GARD:0022535,GARD:0018907,,Rare neoplastic disease +GARD:0021627,GARD:0022524,GARD:0018891,,Rare neurologic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0021739,Rare genetic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0007139,Rare neurologic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0010539,Rare neurologic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0013594,Rare genetic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0012144,Rare genetic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0017950,Rare neurologic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0021739,Rare neurologic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0021597,Rare genetic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0010484,Rare neurologic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0013594,Rare neurologic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0013488,Rare genetic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0022359,Rare neurologic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0022359,Rare genetic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0010533,Rare genetic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0012568,Rare neurologic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0009628,Rare genetic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0017958,Rare neurologic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0017950,Rare genetic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0009628,Rare neurologic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0012144,Rare neurologic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0010533,Rare neurologic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0021597,Rare neurologic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0007139,Rare genetic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0010539,Rare genetic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0010484,Rare genetic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0013488,Rare neurologic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0017958,Rare genetic disease +GARD:0021628,GARD:0022524,GARD:0019432,GARD:0017582,Rare neurologic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0017582,Rare genetic disease +GARD:0021628,GARD:0022531,GARD:0019432,GARD:0012568,Rare genetic disease +GARD:0021629,GARD:0022536,GARD:0021766,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021629,GARD:0022535,GARD:0021766,,Rare neoplastic disease +GARD:0021629,GARD:0022516,GARD:0021766,,Rare gastroenterologic disease +GARD:0021630,GARD:0022531,GARD:0022013,GARD:0019985,Rare genetic disease +GARD:0021630,GARD:0022531,GARD:0022013,GARD:0019432,Rare genetic disease +GARD:0021630,GARD:0022531,GARD:0022013,GARD:0021596,Rare genetic disease +GARD:0021631,GARD:0022509,GARD:0020047,,Rare infectious disease +GARD:0021632,GARD:0022531,GARD:0019928,,Rare genetic disease +GARD:0021632,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0021632,GARD:0022524,GARD:0019928,,Rare neurologic disease +GARD:0021632,GARD:0022531,GARD:0021085,,Rare genetic disease +GARD:0021632,GARD:0022524,GARD:0021085,,Rare neurologic disease +GARD:0021633,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021633,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021633,GARD:0022531,GARD:0020823,,Rare genetic disease +GARD:0021633,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021633,GARD:0022513,GARD:0020823,,Rare developmental defect during embryogenesis +GARD:0021634,GARD:0022508,GARD:0020756,,Rare inborn errors of metabolism +GARD:0021634,GARD:0022524,GARD:0020374,,Rare neurologic disease +GARD:0021634,GARD:0022531,GARD:0021613,,Rare genetic disease +GARD:0021634,GARD:0022531,GARD:0020756,,Rare genetic disease +GARD:0021635,GARD:0022531,GARD:0019565,,Rare genetic disease +GARD:0021635,GARD:0022524,GARD:0019565,,Rare neurologic disease +GARD:0021635,GARD:0022531,GARD:0021613,,Rare genetic disease +GARD:0021635,GARD:0022524,GARD:0020374,,Rare neurologic disease +GARD:0021636,GARD:0022531,GARD:0007628,GARD:0017549,Rare genetic disease +GARD:0021636,GARD:0022536,GARD:0007628,GARD:0017696,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021636,GARD:0022536,GARD:0007628,GARD:0017641,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021636,GARD:0022523,GARD:0007628,GARD:0017696,Rare immune disease +GARD:0021636,GARD:0022523,GARD:0007628,GARD:0017641,Rare immune disease +GARD:0021636,GARD:0022523,GARD:0007628,GARD:0017549,Rare immune disease +GARD:0021636,GARD:0022531,GARD:0007628,GARD:0017696,Rare genetic disease +GARD:0021636,GARD:0022536,GARD:0007628,GARD:0017549,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021636,GARD:0022531,GARD:0007628,GARD:0017641,Rare genetic disease +GARD:0021637,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0021637,GARD:0022531,GARD:0019790,,Rare genetic disease +GARD:0021637,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0021637,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0021637,GARD:0022531,GARD:0020005,,Rare genetic disease +GARD:0021637,GARD:0022506,GARD:0019790,,Rare hepatic disease +GARD:0021638,GARD:0022532,GARD:0009366,,Rare urogenital disease +GARD:0021638,GARD:0022535,GARD:0009366,,Rare neoplastic disease +GARD:0021639,GARD:0022535,GARD:0009366,,Rare neoplastic disease +GARD:0021639,GARD:0022532,GARD:0009366,,Rare urogenital disease +GARD:0021640,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0021641,GARD:0022529,GARD:0021680,GARD:0013316,Rare infertility +GARD:0021641,GARD:0022513,GARD:0019832,GARD:0021642,Rare developmental defect during embryogenesis +GARD:0021641,GARD:0022514,GARD:0020219,GARD:0013316,Rare gynecologic or obstetric disease +GARD:0021641,GARD:0022514,GARD:0020219,GARD:0021642,Rare gynecologic or obstetric disease +GARD:0021641,GARD:0022521,GARD:0020650,GARD:0013316,Rare endocrine disease +GARD:0021641,GARD:0022524,GARD:0019832,GARD:0020126,Rare neurologic disease +GARD:0021641,GARD:0022524,GARD:0019832,GARD:0021642,Rare neurologic disease +GARD:0021641,GARD:0022529,GARD:0020219,GARD:0021642,Rare infertility +GARD:0021641,GARD:0022521,GARD:0020650,GARD:0021642,Rare endocrine disease +GARD:0021641,GARD:0022531,GARD:0021680,GARD:0020126,Rare genetic disease +GARD:0021641,GARD:0022531,GARD:0020650,GARD:0021642,Rare genetic disease +GARD:0021641,GARD:0022513,GARD:0020650,GARD:0013316,Rare developmental defect during embryogenesis +GARD:0021641,GARD:0022524,GARD:0019389,GARD:0013316,Rare neurologic disease +GARD:0021641,GARD:0022529,GARD:0020219,GARD:0013316,Rare infertility +GARD:0021641,GARD:0022529,GARD:0021680,GARD:0020126,Rare infertility +GARD:0021641,GARD:0022521,GARD:0020650,GARD:0020126,Rare endocrine disease +GARD:0021641,GARD:0022531,GARD:0021680,GARD:0013316,Rare genetic disease +GARD:0021641,GARD:0022531,GARD:0020650,GARD:0013316,Rare genetic disease +GARD:0021641,GARD:0022529,GARD:0021680,GARD:0021642,Rare infertility +GARD:0021641,GARD:0022524,GARD:0019389,GARD:0020126,Rare neurologic disease +GARD:0021641,GARD:0022521,GARD:0020219,GARD:0020126,Rare endocrine disease +GARD:0021641,GARD:0022513,GARD:0020650,GARD:0021642,Rare developmental defect during embryogenesis +GARD:0021641,GARD:0022513,GARD:0019832,GARD:0013316,Rare developmental defect during embryogenesis +GARD:0021641,GARD:0022531,GARD:0021680,GARD:0021642,Rare genetic disease +GARD:0021641,GARD:0022531,GARD:0020650,GARD:0020126,Rare genetic disease +GARD:0021641,GARD:0022524,GARD:0019389,GARD:0021642,Rare neurologic disease +GARD:0021641,GARD:0022521,GARD:0020219,GARD:0021642,Rare endocrine disease +GARD:0021641,GARD:0022531,GARD:0020219,GARD:0021642,Rare genetic disease +GARD:0021641,GARD:0022531,GARD:0022441,GARD:0021642,Rare genetic disease +GARD:0021641,GARD:0022513,GARD:0020650,GARD:0020126,Rare developmental defect during embryogenesis +GARD:0021641,GARD:0022531,GARD:0020219,GARD:0013316,Rare genetic disease +GARD:0021641,GARD:0022514,GARD:0020219,GARD:0020126,Rare gynecologic or obstetric disease +GARD:0021641,GARD:0022531,GARD:0020219,GARD:0020126,Rare genetic disease +GARD:0021641,GARD:0022531,GARD:0022441,GARD:0013316,Rare genetic disease +GARD:0021641,GARD:0022531,GARD:0022441,GARD:0020126,Rare genetic disease +GARD:0021641,GARD:0022529,GARD:0020219,GARD:0020126,Rare infertility +GARD:0021641,GARD:0022513,GARD:0019832,GARD:0020126,Rare developmental defect during embryogenesis +GARD:0021641,GARD:0022521,GARD:0020219,GARD:0013316,Rare endocrine disease +GARD:0021641,GARD:0022524,GARD:0019832,GARD:0013316,Rare neurologic disease +GARD:0021642,GARD:0022531,GARD:0021641,,Rare genetic disease +GARD:0021642,GARD:0022514,GARD:0021641,,Rare gynecologic or obstetric disease +GARD:0021642,GARD:0022513,GARD:0021641,,Rare developmental defect during embryogenesis +GARD:0021642,GARD:0022524,GARD:0021641,,Rare neurologic disease +GARD:0021642,GARD:0022529,GARD:0021641,,Rare infertility +GARD:0021642,GARD:0022521,GARD:0021641,,Rare endocrine disease +GARD:0021643,GARD:0022525,GARD:0020256,GARD:0021648,Rare systemic or rheumatologic disease +GARD:0021643,GARD:0022525,GARD:0020256,GARD:0021625,Rare systemic or rheumatologic disease +GARD:0021643,GARD:0022525,GARD:0020256,GARD:0021644,Rare systemic or rheumatologic disease +GARD:0021643,GARD:0021079,GARD:0021082,GARD:0021625,Rare systemic or rheumatological disease of childhood +GARD:0021643,GARD:0022525,GARD:0020256,GARD:0021645,Rare systemic or rheumatologic disease +GARD:0021643,GARD:0022525,GARD:0020256,GARD:0021647,Rare systemic or rheumatologic disease +GARD:0021643,GARD:0021079,GARD:0021082,GARD:0021647,Rare systemic or rheumatological disease of childhood +GARD:0021643,GARD:0021079,GARD:0021082,GARD:0021648,Rare systemic or rheumatological disease of childhood +GARD:0021643,GARD:0022525,GARD:0020256,GARD:0021646,Rare systemic or rheumatologic disease +GARD:0021643,GARD:0021079,GARD:0021082,GARD:0021646,Rare systemic or rheumatological disease of childhood +GARD:0021643,GARD:0021079,GARD:0021082,GARD:0021645,Rare systemic or rheumatological disease of childhood +GARD:0021643,GARD:0021079,GARD:0021082,GARD:0021644,Rare systemic or rheumatological disease of childhood +GARD:0021644,GARD:0022525,GARD:0021643,,Rare systemic or rheumatologic disease +GARD:0021644,GARD:0021079,GARD:0021643,,Rare systemic or rheumatological disease of childhood +GARD:0021645,GARD:0021079,GARD:0021643,,Rare systemic or rheumatological disease of childhood +GARD:0021645,GARD:0022525,GARD:0021643,,Rare systemic or rheumatologic disease +GARD:0021646,GARD:0022525,GARD:0021643,,Rare systemic or rheumatologic disease +GARD:0021646,GARD:0021079,GARD:0021643,,Rare systemic or rheumatological disease of childhood +GARD:0021647,GARD:0021079,GARD:0021643,,Rare systemic or rheumatological disease of childhood +GARD:0021647,GARD:0022525,GARD:0021643,,Rare systemic or rheumatologic disease +GARD:0021648,GARD:0021079,GARD:0021643,,Rare systemic or rheumatological disease of childhood +GARD:0021648,GARD:0022525,GARD:0021643,,Rare systemic or rheumatologic disease +GARD:0021649,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0021650,GARD:0022535,GARD:0007295,GARD:0021654,Rare neoplastic disease +GARD:0021650,GARD:0022514,GARD:0007295,GARD:0020467,Rare gynecologic or obstetric disease +GARD:0021650,GARD:0022514,GARD:0007295,GARD:0018816,Rare gynecologic or obstetric disease +GARD:0021650,GARD:0022514,GARD:0007295,GARD:0009330,Rare gynecologic or obstetric disease +GARD:0021650,GARD:0022514,GARD:0007295,GARD:0017100,Rare gynecologic or obstetric disease +GARD:0021650,GARD:0022535,GARD:0007295,GARD:0020467,Rare neoplastic disease +GARD:0021650,GARD:0022535,GARD:0007295,GARD:0017100,Rare neoplastic disease +GARD:0021650,GARD:0022535,GARD:0007295,GARD:0010411,Rare neoplastic disease +GARD:0021650,GARD:0022535,GARD:0007295,GARD:0018816,Rare neoplastic disease +GARD:0021650,GARD:0022535,GARD:0007295,GARD:0009330,Rare neoplastic disease +GARD:0021650,GARD:0022514,GARD:0007295,GARD:0010411,Rare gynecologic or obstetric disease +GARD:0021650,GARD:0022514,GARD:0007295,GARD:0021654,Rare gynecologic or obstetric disease +GARD:0021651,GARD:0022535,GARD:0009362,,Rare neoplastic disease +GARD:0021651,GARD:0022514,GARD:0009362,,Rare gynecologic or obstetric disease +GARD:0021652,GARD:0022535,GARD:0009362,,Rare neoplastic disease +GARD:0021652,GARD:0022514,GARD:0009362,,Rare gynecologic or obstetric disease +GARD:0021653,GARD:0022535,GARD:0009362,,Rare neoplastic disease +GARD:0021653,GARD:0022514,GARD:0009362,,Rare gynecologic or obstetric disease +GARD:0021654,GARD:0022535,GARD:0021650,,Rare neoplastic disease +GARD:0021654,GARD:0022514,GARD:0021650,,Rare gynecologic or obstetric disease +GARD:0021655,GARD:0022524,GARD:0020361,,Rare neurologic disease +GARD:0021655,GARD:0022531,GARD:0020361,,Rare genetic disease +GARD:0021656,GARD:0022531,GARD:0020362,,Rare genetic disease +GARD:0021656,GARD:0022524,GARD:0020362,,Rare neurologic disease +GARD:0021657,GARD:0022511,GARD:0022511,GARD:0021860,Rare bone disease +GARD:0021657,GARD:0022511,GARD:0022511,GARD:0012704,Rare bone disease +GARD:0021657,GARD:0022511,GARD:0022511,GARD:0004133,Rare bone disease +GARD:0021657,GARD:0022511,GARD:0022511,GARD:0022283,Rare bone disease +GARD:0021657,GARD:0022525,GARD:0020257,GARD:0012703,Rare systemic or rheumatologic disease +GARD:0021657,GARD:0022525,GARD:0020257,GARD:0004133,Rare systemic or rheumatologic disease +GARD:0021657,GARD:0022525,GARD:0020257,GARD:0012704,Rare systemic or rheumatologic disease +GARD:0021657,GARD:0022511,GARD:0022511,GARD:0012703,Rare bone disease +GARD:0021657,GARD:0022511,GARD:0022511,GARD:0021666,Rare bone disease +GARD:0021657,GARD:0022511,GARD:0022511,GARD:0022138,Rare bone disease +GARD:0021657,GARD:0022525,GARD:0020257,GARD:0021666,Rare systemic or rheumatologic disease +GARD:0021657,GARD:0022525,GARD:0020257,GARD:0022283,Rare systemic or rheumatologic disease +GARD:0021657,GARD:0022511,GARD:0022511,GARD:0021658,Rare bone disease +GARD:0021657,GARD:0022525,GARD:0020257,GARD:0022138,Rare systemic or rheumatologic disease +GARD:0021657,GARD:0022525,GARD:0020257,GARD:0021658,Rare systemic or rheumatologic disease +GARD:0021657,GARD:0022525,GARD:0020257,GARD:0021860,Rare systemic or rheumatologic disease +GARD:0021658,GARD:0022511,GARD:0021657,GARD:0021664,Rare bone disease +GARD:0021658,GARD:0022525,GARD:0021657,GARD:0021659,Rare systemic or rheumatologic disease +GARD:0021658,GARD:0022525,GARD:0021657,GARD:0021664,Rare systemic or rheumatologic disease +GARD:0021658,GARD:0022511,GARD:0021657,GARD:0021659,Rare bone disease +GARD:0021659,GARD:0022511,GARD:0021658,GARD:0021663,Rare bone disease +GARD:0021659,GARD:0022511,GARD:0021658,GARD:0021660,Rare bone disease +GARD:0021659,GARD:0022525,GARD:0021658,GARD:0021660,Rare systemic or rheumatologic disease +GARD:0021659,GARD:0022525,GARD:0021658,GARD:0021663,Rare systemic or rheumatologic disease +GARD:0021659,GARD:0022525,GARD:0021658,GARD:0021661,Rare systemic or rheumatologic disease +GARD:0021659,GARD:0022511,GARD:0021658,GARD:0021661,Rare bone disease +GARD:0021659,GARD:0022525,GARD:0021658,GARD:0021662,Rare systemic or rheumatologic disease +GARD:0021659,GARD:0022511,GARD:0021658,GARD:0021662,Rare bone disease +GARD:0021660,GARD:0022511,GARD:0021659,,Rare bone disease +GARD:0021660,GARD:0022525,GARD:0021659,,Rare systemic or rheumatologic disease +GARD:0021661,GARD:0022525,GARD:0021659,,Rare systemic or rheumatologic disease +GARD:0021661,GARD:0022511,GARD:0021659,,Rare bone disease +GARD:0021662,GARD:0022531,GARD:0021668,GARD:0008614,Rare genetic disease +GARD:0021662,GARD:0022525,GARD:0021659,GARD:0008614,Rare systemic or rheumatologic disease +GARD:0021662,GARD:0022525,GARD:0021659,GARD:0020515,Rare systemic or rheumatologic disease +GARD:0021662,GARD:0022511,GARD:0021659,GARD:0002441,Rare bone disease +GARD:0021662,GARD:0022511,GARD:0021659,GARD:0020515,Rare bone disease +GARD:0021662,GARD:0022525,GARD:0021659,GARD:0002443,Rare systemic or rheumatologic disease +GARD:0021662,GARD:0022525,GARD:0021659,GARD:0002441,Rare systemic or rheumatologic disease +GARD:0021662,GARD:0022531,GARD:0021668,GARD:0020515,Rare genetic disease +GARD:0021662,GARD:0022511,GARD:0021659,GARD:0008614,Rare bone disease +GARD:0021662,GARD:0022531,GARD:0021668,GARD:0002441,Rare genetic disease +GARD:0021662,GARD:0022511,GARD:0021659,GARD:0002443,Rare bone disease +GARD:0021662,GARD:0022531,GARD:0021668,GARD:0002443,Rare genetic disease +GARD:0021663,GARD:0022511,GARD:0021659,,Rare bone disease +GARD:0021663,GARD:0022525,GARD:0021659,,Rare systemic or rheumatologic disease +GARD:0021664,GARD:0022511,GARD:0021658,GARD:0010914,Rare bone disease +GARD:0021664,GARD:0022511,GARD:0021658,GARD:0021665,Rare bone disease +GARD:0021664,GARD:0022525,GARD:0021658,GARD:0021665,Rare systemic or rheumatologic disease +GARD:0021664,GARD:0022525,GARD:0021658,GARD:0010914,Rare systemic or rheumatologic disease +GARD:0021665,GARD:0022511,GARD:0021664,,Rare bone disease +GARD:0021665,GARD:0022525,GARD:0021664,,Rare systemic or rheumatologic disease +GARD:0021666,GARD:0022525,GARD:0021657,,Rare systemic or rheumatologic disease +GARD:0021666,GARD:0022511,GARD:0021657,,Rare bone disease +GARD:0021667,GARD:0022531,GARD:0020288,GARD:0021668,Rare genetic disease +GARD:0021667,GARD:0022531,GARD:0020288,GARD:0021669,Rare genetic disease +GARD:0021667,GARD:0022531,GARD:0020288,GARD:0004133,Rare genetic disease +GARD:0021668,GARD:0022531,GARD:0021667,GARD:0010914,Rare genetic disease +GARD:0021668,GARD:0022531,GARD:0021667,GARD:0021662,Rare genetic disease +GARD:0021669,GARD:0022531,GARD:0021667,GARD:0004131,Rare genetic disease +GARD:0021669,GARD:0022531,GARD:0021667,GARD:0007610,Rare genetic disease +GARD:0021670,GARD:0022529,GARD:0019396,GARD:0004508,Rare infertility +GARD:0021670,GARD:0022529,GARD:0019396,GARD:0021672,Rare infertility +GARD:0021670,GARD:0022529,GARD:0019396,GARD:0020135,Rare infertility +GARD:0021670,GARD:0022529,GARD:0019396,GARD:0021671,Rare infertility +GARD:0021670,GARD:0022529,GARD:0019396,GARD:0017634,Rare infertility +GARD:0021670,GARD:0022529,GARD:0019396,GARD:0000365,Rare infertility +GARD:0021671,GARD:0022529,GARD:0021670,GARD:0010824,Rare infertility +GARD:0021671,GARD:0022529,GARD:0021670,GARD:0001469,Rare infertility +GARD:0021671,GARD:0022529,GARD:0021670,GARD:0012665,Rare infertility +GARD:0021671,GARD:0022529,GARD:0021670,GARD:0019699,Rare infertility +GARD:0021671,GARD:0022529,GARD:0021670,GARD:0021474,Rare infertility +GARD:0021671,GARD:0022529,GARD:0021670,GARD:0019700,Rare infertility +GARD:0021672,GARD:0022529,GARD:0021670,GARD:0005680,Rare infertility +GARD:0021672,GARD:0022531,GARD:0021686,GARD:0005659,Rare genetic disease +GARD:0021672,GARD:0022529,GARD:0021670,GARD:0005659,Rare infertility +GARD:0021672,GARD:0022531,GARD:0021686,GARD:0005680,Rare genetic disease +GARD:0021672,GARD:0022529,GARD:0021670,GARD:0020233,Rare infertility +GARD:0021672,GARD:0022531,GARD:0021686,GARD:0003244,Rare genetic disease +GARD:0021672,GARD:0022531,GARD:0021686,GARD:0020233,Rare genetic disease +GARD:0021672,GARD:0022531,GARD:0021686,GARD:0005803,Rare genetic disease +GARD:0021672,GARD:0022529,GARD:0021670,GARD:0006818,Rare infertility +GARD:0021672,GARD:0022529,GARD:0021670,GARD:0005803,Rare infertility +GARD:0021672,GARD:0022531,GARD:0021686,GARD:0006818,Rare genetic disease +GARD:0021672,GARD:0022529,GARD:0021670,GARD:0003244,Rare infertility +GARD:0021673,GARD:0022531,GARD:0021685,GARD:0021674,Rare genetic disease +GARD:0021673,GARD:0022529,GARD:0019396,GARD:0021674,Rare infertility +GARD:0021673,GARD:0022529,GARD:0019396,GARD:0019445,Rare infertility +GARD:0021673,GARD:0022531,GARD:0021685,GARD:0019445,Rare genetic disease +GARD:0021674,GARD:0022529,GARD:0021673,GARD:0021675,Rare infertility +GARD:0021674,GARD:0022531,GARD:0021673,GARD:0012109,Rare genetic disease +GARD:0021674,GARD:0022531,GARD:0021673,GARD:0021675,Rare genetic disease +GARD:0021674,GARD:0022529,GARD:0021673,GARD:0012109,Rare infertility +GARD:0021674,GARD:0022529,GARD:0021673,GARD:0021676,Rare infertility +GARD:0021674,GARD:0022531,GARD:0021673,GARD:0021676,Rare genetic disease +GARD:0021675,GARD:0022531,GARD:0021674,GARD:0012513,Rare genetic disease +GARD:0021675,GARD:0022529,GARD:0021674,GARD:0016574,Rare infertility +GARD:0021675,GARD:0022531,GARD:0021674,GARD:0016574,Rare genetic disease +GARD:0021675,GARD:0022529,GARD:0021674,GARD:0012513,Rare infertility +GARD:0021676,GARD:0022529,GARD:0021674,GARD:0004484,Rare infertility +GARD:0021676,GARD:0022531,GARD:0021674,GARD:0011911,Rare genetic disease +GARD:0021676,GARD:0022529,GARD:0021674,GARD:0011911,Rare infertility +GARD:0021676,GARD:0022531,GARD:0021674,GARD:0004484,Rare genetic disease +GARD:0021676,GARD:0022529,GARD:0021674,GARD:0017277,Rare infertility +GARD:0021676,GARD:0022531,GARD:0021674,GARD:0017277,Rare genetic disease +GARD:0021677,GARD:0022529,GARD:0019446,GARD:0008378,Rare infertility +GARD:0021677,GARD:0022529,GARD:0019446,GARD:0000341,Rare infertility +GARD:0021677,GARD:0022529,GARD:0019446,GARD:0006886,Rare infertility +GARD:0021677,GARD:0022529,GARD:0019446,GARD:0007827,Rare infertility +GARD:0021677,GARD:0022529,GARD:0019446,GARD:0010413,Rare infertility +GARD:0021677,GARD:0022529,GARD:0019446,GARD:0006233,Rare infertility +GARD:0021677,GARD:0022529,GARD:0019446,GARD:0008435,Rare infertility +GARD:0021678,GARD:0022529,GARD:0019397,GARD:0021679,Rare infertility +GARD:0021678,GARD:0022529,GARD:0019397,GARD:0021681,Rare infertility +GARD:0021678,GARD:0022529,GARD:0019397,GARD:0021682,Rare infertility +GARD:0021678,GARD:0022529,GARD:0019397,GARD:0016548,Rare infertility +GARD:0021678,GARD:0022529,GARD:0019397,GARD:0000365,Rare infertility +GARD:0021678,GARD:0022529,GARD:0019397,GARD:0004508,Rare infertility +GARD:0021678,GARD:0022529,GARD:0019397,GARD:0005725,Rare infertility +GARD:0021678,GARD:0022529,GARD:0019397,GARD:0017634,Rare infertility +GARD:0021679,GARD:0022529,GARD:0021678,GARD:0020220,Rare infertility +GARD:0021679,GARD:0022529,GARD:0021678,GARD:0020643,Rare infertility +GARD:0021679,GARD:0022531,GARD:0021691,GARD:0021680,Rare genetic disease +GARD:0021679,GARD:0022531,GARD:0021691,GARD:0020220,Rare genetic disease +GARD:0021679,GARD:0022529,GARD:0021678,GARD:0021680,Rare infertility +GARD:0021679,GARD:0022531,GARD:0021691,GARD:0020643,Rare genetic disease +GARD:0021680,GARD:0022531,GARD:0021679,GARD:0000029,Rare genetic disease +GARD:0021680,GARD:0022531,GARD:0021679,GARD:0006866,Rare genetic disease +GARD:0021680,GARD:0022529,GARD:0021679,GARD:0000029,Rare infertility +GARD:0021680,GARD:0022529,GARD:0021679,GARD:0006866,Rare infertility +GARD:0021680,GARD:0022531,GARD:0021679,GARD:0005575,Rare genetic disease +GARD:0021680,GARD:0022529,GARD:0021679,GARD:0005575,Rare infertility +GARD:0021680,GARD:0022531,GARD:0021679,GARD:0021641,Rare genetic disease +GARD:0021680,GARD:0022529,GARD:0021679,GARD:0021641,Rare infertility +GARD:0021681,GARD:0022529,GARD:0021678,GARD:0019699,Rare infertility +GARD:0021681,GARD:0022529,GARD:0021678,GARD:0012665,Rare infertility +GARD:0021681,GARD:0022529,GARD:0021678,GARD:0019700,Rare infertility +GARD:0021681,GARD:0022529,GARD:0021678,GARD:0005659,Rare infertility +GARD:0021681,GARD:0022529,GARD:0021678,GARD:0001469,Rare infertility +GARD:0021681,GARD:0022529,GARD:0021678,GARD:0001465,Rare infertility +GARD:0021682,GARD:0022529,GARD:0021678,GARD:0008466,Rare infertility +GARD:0021682,GARD:0022529,GARD:0021678,GARD:0005672,Rare infertility +GARD:0021682,GARD:0022529,GARD:0021678,GARD:0013639,Rare infertility +GARD:0021682,GARD:0022529,GARD:0021678,GARD:0007754,Rare infertility +GARD:0021682,GARD:0022529,GARD:0021678,GARD:0007611,Rare infertility +GARD:0021682,GARD:0022529,GARD:0021678,GARD:0019345,Rare infertility +GARD:0021682,GARD:0022529,GARD:0021678,GARD:0009904,Rare infertility +GARD:0021682,GARD:0022529,GARD:0021678,GARD:0018008,Rare infertility +GARD:0021682,GARD:0022529,GARD:0021678,GARD:0003008,Rare infertility +GARD:0021683,GARD:0022529,GARD:0019397,GARD:0007831,Rare infertility +GARD:0021683,GARD:0022529,GARD:0019397,GARD:0017760,Rare infertility +GARD:0021683,GARD:0022531,GARD:0021690,GARD:0005671,Rare genetic disease +GARD:0021683,GARD:0022531,GARD:0021690,GARD:0016585,Rare genetic disease +GARD:0021683,GARD:0022531,GARD:0021690,GARD:0007831,Rare genetic disease +GARD:0021683,GARD:0022531,GARD:0021690,GARD:0002542,Rare genetic disease +GARD:0021683,GARD:0022529,GARD:0019397,GARD:0016585,Rare infertility +GARD:0021683,GARD:0022531,GARD:0021690,GARD:0017760,Rare genetic disease +GARD:0021683,GARD:0022529,GARD:0019397,GARD:0017211,Rare infertility +GARD:0021683,GARD:0022529,GARD:0019397,GARD:0002542,Rare infertility +GARD:0021683,GARD:0022529,GARD:0019397,GARD:0005671,Rare infertility +GARD:0021683,GARD:0022531,GARD:0021690,GARD:0017211,Rare genetic disease +GARD:0021684,GARD:0022529,GARD:0019397,GARD:0020180,Rare infertility +GARD:0021684,GARD:0022529,GARD:0019397,GARD:0005445,Rare infertility +GARD:0021684,GARD:0022529,GARD:0019397,GARD:0020186,Rare infertility +GARD:0021684,GARD:0022529,GARD:0019397,GARD:0001859,Rare infertility +GARD:0021684,GARD:0022529,GARD:0019397,GARD:0020185,Rare infertility +GARD:0021685,GARD:0022531,GARD:0021021,GARD:0021686,Rare genetic disease +GARD:0021685,GARD:0022531,GARD:0021021,GARD:0021688,Rare genetic disease +GARD:0021685,GARD:0022531,GARD:0021021,GARD:0021673,Rare genetic disease +GARD:0021686,GARD:0022531,GARD:0021685,GARD:0021672,Rare genetic disease +GARD:0021686,GARD:0022531,GARD:0021685,GARD:0021687,Rare genetic disease +GARD:0021686,GARD:0022531,GARD:0021685,GARD:0000365,Rare genetic disease +GARD:0021686,GARD:0022531,GARD:0021685,GARD:0020135,Rare genetic disease +GARD:0021686,GARD:0022531,GARD:0021685,GARD:0017634,Rare genetic disease +GARD:0021687,GARD:0022531,GARD:0021686,GARD:0021474,Rare genetic disease +GARD:0021687,GARD:0022531,GARD:0021686,GARD:0001469,Rare genetic disease +GARD:0021687,GARD:0022531,GARD:0021686,GARD:0012665,Rare genetic disease +GARD:0021687,GARD:0022531,GARD:0021686,GARD:0010824,Rare genetic disease +GARD:0021688,GARD:0022531,GARD:0021685,GARD:0005461,Rare genetic disease +GARD:0021688,GARD:0022531,GARD:0021685,GARD:0021689,Rare genetic disease +GARD:0021689,GARD:0022531,GARD:0021688,GARD:0010413,Rare genetic disease +GARD:0021689,GARD:0022531,GARD:0021688,GARD:0006233,Rare genetic disease +GARD:0021689,GARD:0022531,GARD:0021688,GARD:0008378,Rare genetic disease +GARD:0021689,GARD:0022531,GARD:0021688,GARD:0008435,Rare genetic disease +GARD:0021689,GARD:0022531,GARD:0021688,GARD:0000341,Rare genetic disease +GARD:0021690,GARD:0022531,GARD:0021021,GARD:0021683,Rare genetic disease +GARD:0021690,GARD:0022531,GARD:0021021,GARD:0021694,Rare genetic disease +GARD:0021690,GARD:0022531,GARD:0021021,GARD:0021691,Rare genetic disease +GARD:0021690,GARD:0022531,GARD:0021021,GARD:0021718,Rare genetic disease +GARD:0021691,GARD:0022531,GARD:0021690,GARD:0000365,Rare genetic disease +GARD:0021691,GARD:0022531,GARD:0021690,GARD:0017634,Rare genetic disease +GARD:0021691,GARD:0022531,GARD:0021690,GARD:0021693,Rare genetic disease +GARD:0021691,GARD:0022531,GARD:0021690,GARD:0016548,Rare genetic disease +GARD:0021691,GARD:0022531,GARD:0021690,GARD:0021679,Rare genetic disease +GARD:0021691,GARD:0022531,GARD:0021690,GARD:0021692,Rare genetic disease +GARD:0021691,GARD:0022531,GARD:0021690,GARD:0010128,Rare genetic disease +GARD:0021692,GARD:0022531,GARD:0021691,GARD:0001465,Rare genetic disease +GARD:0021692,GARD:0022531,GARD:0021691,GARD:0005659,Rare genetic disease +GARD:0021692,GARD:0022531,GARD:0021691,GARD:0001469,Rare genetic disease +GARD:0021692,GARD:0022531,GARD:0021691,GARD:0012665,Rare genetic disease +GARD:0021693,GARD:0022531,GARD:0021691,GARD:0009904,Rare genetic disease +GARD:0021693,GARD:0022531,GARD:0021691,GARD:0018008,Rare genetic disease +GARD:0021693,GARD:0022531,GARD:0021691,GARD:0007754,Rare genetic disease +GARD:0021693,GARD:0022531,GARD:0021691,GARD:0003008,Rare genetic disease +GARD:0021693,GARD:0022531,GARD:0021691,GARD:0005672,Rare genetic disease +GARD:0021693,GARD:0022531,GARD:0021691,GARD:0019345,Rare genetic disease +GARD:0021693,GARD:0022531,GARD:0021691,GARD:0013639,Rare genetic disease +GARD:0021694,GARD:0022531,GARD:0021690,GARD:0005445,Rare genetic disease +GARD:0021695,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0021695,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0021696,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0021696,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0021697,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0021697,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0021698,GARD:0022508,GARD:0021342,,Rare inborn errors of metabolism +GARD:0021698,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0021698,GARD:0022531,GARD:0021342,,Rare genetic disease +GARD:0021698,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0021699,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0021699,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0021700,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0021700,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0021701,GARD:0022524,GARD:0019773,,Rare neurologic disease +GARD:0021701,GARD:0022531,GARD:0019773,,Rare genetic disease +GARD:0021702,GARD:0022531,GARD:0021039,,Rare genetic disease +GARD:0021702,GARD:0022524,GARD:0021271,,Rare neurologic disease +GARD:0021702,GARD:0022524,GARD:0019484,,Rare neurologic disease +GARD:0021702,GARD:0022531,GARD:0021271,,Rare genetic disease +GARD:0021703,GARD:0022531,GARD:0008532,,Rare genetic disease +GARD:0021703,GARD:0022536,GARD:0008532,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021703,GARD:0022535,GARD:0008532,,Rare neoplastic disease +GARD:0021703,GARD:0022516,GARD:0008532,,Rare gastroenterologic disease +GARD:0021704,GARD:0022536,GARD:0021786,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021704,GARD:0022506,GARD:0021786,,Rare hepatic disease +GARD:0021704,GARD:0022535,GARD:0021786,,Rare neoplastic disease +GARD:0021705,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021705,GARD:0022531,GARD:0020829,,Rare genetic disease +GARD:0021705,GARD:0022513,GARD:0020829,,Rare developmental defect during embryogenesis +GARD:0021705,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021705,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021706,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021706,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021706,GARD:0022513,GARD:0020833,,Rare developmental defect during embryogenesis +GARD:0021706,GARD:0022531,GARD:0020833,,Rare genetic disease +GARD:0021706,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021707,GARD:0022531,GARD:0020088,,Rare genetic disease +GARD:0021707,GARD:0022524,GARD:0020088,,Rare neurologic disease +GARD:0021707,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0021707,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0021707,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0021708,GARD:0022524,GARD:0019929,GARD:0022435,Rare neurologic disease +GARD:0021708,GARD:0022524,GARD:0019929,GARD:0022437,Rare neurologic disease +GARD:0021708,GARD:0022531,GARD:0019929,GARD:0022435,Rare genetic disease +GARD:0021708,GARD:0022524,GARD:0019929,GARD:0016983,Rare neurologic disease +GARD:0021708,GARD:0022531,GARD:0019929,GARD:0022437,Rare genetic disease +GARD:0021708,GARD:0022524,GARD:0019929,GARD:0001611,Rare neurologic disease +GARD:0021708,GARD:0022531,GARD:0019929,GARD:0016983,Rare genetic disease +GARD:0021708,GARD:0022531,GARD:0019929,GARD:0001611,Rare genetic disease +GARD:0021709,GARD:0022510,GARD:0019010,GARD:0019066,Rare skin disease +GARD:0021709,GARD:0022510,GARD:0019010,GARD:0007321,Rare skin disease +GARD:0021709,GARD:0022510,GARD:0019010,GARD:0007615,Rare skin disease +GARD:0021710,GARD:0022535,GARD:0012758,,Rare neoplastic disease +GARD:0021710,GARD:0022522,GARD:0012758,,Rare hematologic disease +GARD:0021710,GARD:0022536,GARD:0012758,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021711,GARD:0022535,GARD:0012758,,Rare neoplastic disease +GARD:0021711,GARD:0022536,GARD:0012758,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021711,GARD:0022522,GARD:0012758,,Rare hematologic disease +GARD:0021712,GARD:0022522,GARD:0012758,,Rare hematologic disease +GARD:0021712,GARD:0022535,GARD:0012758,,Rare neoplastic disease +GARD:0021712,GARD:0022536,GARD:0012758,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021713,GARD:0022522,GARD:0012758,,Rare hematologic disease +GARD:0021713,GARD:0022536,GARD:0012758,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021713,GARD:0022535,GARD:0012758,,Rare neoplastic disease +GARD:0021714,GARD:0022516,GARD:0022516,GARD:0021735,Rare gastroenterologic disease +GARD:0021714,GARD:0022516,GARD:0022516,GARD:0021715,Rare gastroenterologic disease +GARD:0021714,GARD:0022516,GARD:0022516,GARD:0009142,Rare gastroenterologic disease +GARD:0021715,GARD:0022516,GARD:0021714,,Rare gastroenterologic disease +GARD:0021716,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0021716,GARD:0022506,GARD:0022506,,Rare hepatic disease +GARD:0021717,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021717,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021717,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021718,GARD:0022529,GARD:0019397,GARD:0017887,Rare infertility +GARD:0021718,GARD:0022531,GARD:0021690,GARD:0017887,Rare genetic disease +GARD:0021718,GARD:0022529,GARD:0019397,GARD:0017675,Rare infertility +GARD:0021718,GARD:0022531,GARD:0021690,GARD:0017675,Rare genetic disease +GARD:0021719,GARD:0022524,GARD:0022440,GARD:0017313,Rare neurologic disease +GARD:0021719,GARD:0022524,GARD:0018718,GARD:0017677,Rare neurologic disease +GARD:0021719,GARD:0022531,GARD:0022440,GARD:0017677,Rare genetic disease +GARD:0021719,GARD:0022524,GARD:0022440,GARD:0017677,Rare neurologic disease +GARD:0021719,GARD:0022531,GARD:0022440,GARD:0017678,Rare genetic disease +GARD:0021719,GARD:0022524,GARD:0018718,GARD:0017678,Rare neurologic disease +GARD:0021719,GARD:0022531,GARD:0020086,GARD:0017677,Rare genetic disease +GARD:0021719,GARD:0022531,GARD:0020086,GARD:0017678,Rare genetic disease +GARD:0021719,GARD:0022531,GARD:0018718,GARD:0017678,Rare genetic disease +GARD:0021719,GARD:0022524,GARD:0020086,GARD:0017313,Rare neurologic disease +GARD:0021719,GARD:0022524,GARD:0018718,GARD:0017313,Rare neurologic disease +GARD:0021719,GARD:0022531,GARD:0018718,GARD:0017677,Rare genetic disease +GARD:0021719,GARD:0022531,GARD:0022440,GARD:0017313,Rare genetic disease +GARD:0021719,GARD:0022524,GARD:0022440,GARD:0017678,Rare neurologic disease +GARD:0021719,GARD:0022531,GARD:0018718,GARD:0017313,Rare genetic disease +GARD:0021719,GARD:0022531,GARD:0020086,GARD:0017313,Rare genetic disease +GARD:0021719,GARD:0022524,GARD:0020086,GARD:0017677,Rare neurologic disease +GARD:0021719,GARD:0022524,GARD:0020086,GARD:0017678,Rare neurologic disease +GARD:0021720,GARD:0022511,GARD:0018892,,Rare bone disease +GARD:0021720,GARD:0022535,GARD:0018892,,Rare neoplastic disease +GARD:0021721,GARD:0022536,GARD:0009574,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021721,GARD:0022512,GARD:0009574,,Rare renal disease +GARD:0021721,GARD:0022535,GARD:0009574,,Rare neoplastic disease +GARD:0021722,GARD:0022536,GARD:0013215,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021722,GARD:0022512,GARD:0013215,,Rare renal disease +GARD:0021722,GARD:0022535,GARD:0013215,,Rare neoplastic disease +GARD:0021723,GARD:0022524,GARD:0021724,,Rare neurologic disease +GARD:0021723,GARD:0022531,GARD:0021724,,Rare genetic disease +GARD:0021724,GARD:0022531,GARD:0012683,GARD:0016957,Rare genetic disease +GARD:0021724,GARD:0022524,GARD:0012683,GARD:0021723,Rare neurologic disease +GARD:0021724,GARD:0022524,GARD:0012683,GARD:0008521,Rare neurologic disease +GARD:0021724,GARD:0022531,GARD:0012683,GARD:0021723,Rare genetic disease +GARD:0021724,GARD:0022524,GARD:0012683,GARD:0016957,Rare neurologic disease +GARD:0021724,GARD:0022531,GARD:0012683,GARD:0008521,Rare genetic disease +GARD:0021725,GARD:0022531,GARD:0021730,GARD:0019208,Rare genetic disease +GARD:0021725,GARD:0022531,GARD:0020288,GARD:0006209,Rare genetic disease +GARD:0021725,GARD:0022531,GARD:0020288,GARD:0019207,Rare genetic disease +GARD:0021725,GARD:0022531,GARD:0021730,GARD:0016673,Rare genetic disease +GARD:0021725,GARD:0022531,GARD:0020288,GARD:0016673,Rare genetic disease +GARD:0021725,GARD:0022531,GARD:0021730,GARD:0006209,Rare genetic disease +GARD:0021725,GARD:0022531,GARD:0021730,GARD:0021726,Rare genetic disease +GARD:0021725,GARD:0022531,GARD:0020288,GARD:0021726,Rare genetic disease +GARD:0021725,GARD:0022531,GARD:0021730,GARD:0019209,Rare genetic disease +GARD:0021725,GARD:0022531,GARD:0020288,GARD:0019208,Rare genetic disease +GARD:0021725,GARD:0022531,GARD:0021730,GARD:0019207,Rare genetic disease +GARD:0021725,GARD:0022531,GARD:0020288,GARD:0019209,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0017093,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0022030,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0020015,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0021566,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0021183,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0004170,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0021187,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0021727,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0019210,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0020573,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0019211,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0021573,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0004638,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0010573,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0019212,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0018895,Rare genetic disease +GARD:0021726,GARD:0022531,GARD:0021725,GARD:0021188,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0022071,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0004065,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0017889,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0007387,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0001369,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0003051,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0003523,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0016686,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0003523,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0003051,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0009182,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0017180,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0009879,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0008309,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0004637,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0017139,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0001555,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0000748,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0010109,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0000224,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0021487,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0000061,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0000384,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0006425,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0002613,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0006666,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0016593,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0000224,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0002622,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0000061,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0006425,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0004963,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0006666,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0002229,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0001555,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0004633,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0004967,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0009212,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0004637,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0021487,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0005210,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0002613,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0002285,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0017889,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0004963,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0000118,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0002229,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0000068,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0004633,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0002750,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0016611,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0010109,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0000386,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0004323,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0001068,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0005398,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0003707,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0005210,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0007387,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0009212,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0000118,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0016593,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0000269,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0016611,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0000068,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0000269,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0000384,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0016686,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0000748,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0005398,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0004323,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0022071,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0003707,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0005116,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0004065,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0006571,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0002410,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0009182,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0002622,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0002410,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0005739,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0017180,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0010354,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0005739,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0001369,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0004967,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0002285,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0017139,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0005116,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0000386,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0009879,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0010354,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0002750,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0008309,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021726,GARD:0001068,Rare genetic disease +GARD:0021727,GARD:0022531,GARD:0021728,GARD:0006571,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0022370,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0020573,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0018895,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0021862,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0021188,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0017823,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0021727,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0019212,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0001069,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0019870,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0002593,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0021187,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0017093,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0002597,Rare genetic disease +GARD:0021728,GARD:0022531,GARD:0020292,GARD:0005199,Rare genetic disease +GARD:0021729,GARD:0021079,GARD:0018677,GARD:0003931,Rare systemic or rheumatological disease of childhood +GARD:0021729,GARD:0021079,GARD:0018677,GARD:0019064,Rare systemic or rheumatological disease of childhood +GARD:0021729,GARD:0022517,GARD:0018677,GARD:0019064,Rare respiratory disease +GARD:0021729,GARD:0022525,GARD:0018677,GARD:0003931,Rare systemic or rheumatologic disease +GARD:0021729,GARD:0022525,GARD:0018677,GARD:0019064,Rare systemic or rheumatologic disease +GARD:0021729,GARD:0022536,GARD:0018677,GARD:0003931,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021729,GARD:0022517,GARD:0018677,GARD:0003931,Rare respiratory disease +GARD:0021729,GARD:0022536,GARD:0018677,GARD:0019064,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021730,GARD:0022531,GARD:0020290,GARD:0021725,Rare genetic disease +GARD:0021730,GARD:0022531,GARD:0020290,GARD:0021567,Rare genetic disease +GARD:0021731,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0021731,GARD:0022513,GARD:0019867,,Rare developmental defect during embryogenesis +GARD:0021731,GARD:0022518,GARD:0019867,,Rare surgical thoracic disease +GARD:0021732,GARD:0022524,GARD:0005810,,Rare neurologic disease +GARD:0021732,GARD:0022513,GARD:0005810,,Rare developmental defect during embryogenesis +GARD:0021732,GARD:0022531,GARD:0005810,,Rare genetic disease +GARD:0021733,GARD:0022524,GARD:0005810,,Rare neurologic disease +GARD:0021733,GARD:0022531,GARD:0005810,,Rare genetic disease +GARD:0021733,GARD:0022513,GARD:0005810,,Rare developmental defect during embryogenesis +GARD:0021734,GARD:0022520,GARD:0022104,,Rare ophthalmic disorder +GARD:0021735,GARD:0022516,GARD:0021714,,Rare gastroenterologic disease +GARD:0021736,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0021736,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0021737,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021737,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021737,GARD:0022531,GARD:0020832,,Rare genetic disease +GARD:0021737,GARD:0022513,GARD:0020832,,Rare developmental defect during embryogenesis +GARD:0021737,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0021737,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021738,GARD:0022524,GARD:0019484,,Rare neurologic disease +GARD:0021738,GARD:0022531,GARD:0021039,,Rare genetic disease +GARD:0021739,GARD:0022531,GARD:0021628,,Rare genetic disease +GARD:0021739,GARD:0022524,GARD:0021628,,Rare neurologic disease +GARD:0021740,GARD:0022531,GARD:0020303,GARD:0016974,Rare genetic disease +GARD:0021740,GARD:0022531,GARD:0020303,GARD:0017663,Rare genetic disease +GARD:0021740,GARD:0022531,GARD:0020303,GARD:0019970,Rare genetic disease +GARD:0021740,GARD:0022531,GARD:0020303,GARD:0012642,Rare genetic disease +GARD:0021741,GARD:0022516,GARD:0006383,,Rare gastroenterologic disease +GARD:0021741,GARD:0022535,GARD:0006383,,Rare neoplastic disease +GARD:0021742,GARD:0022535,GARD:0006383,,Rare neoplastic disease +GARD:0021742,GARD:0022516,GARD:0006383,,Rare gastroenterologic disease +GARD:0021743,GARD:0022535,GARD:0021757,,Rare neoplastic disease +GARD:0021743,GARD:0022516,GARD:0021757,,Rare gastroenterologic disease +GARD:0021744,GARD:0022517,GARD:0020938,,Rare respiratory disease +GARD:0021744,GARD:0022536,GARD:0020938,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021745,GARD:0022528,GARD:0022528,,Rare otorhinolaryngologic disease +GARD:0021746,GARD:0022524,GARD:0005714,,Rare neurologic disease +GARD:0021746,GARD:0022536,GARD:0005714,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021746,GARD:0022531,GARD:0005714,,Rare genetic disease +GARD:0021746,GARD:0022515,GARD:0005714,,Rare cardiac disease +GARD:0021746,GARD:0022508,GARD:0005714,,Rare inborn errors of metabolism +GARD:0021747,GARD:0022531,GARD:0021834,,Rare genetic disease +GARD:0021747,GARD:0022536,GARD:0021834,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021747,GARD:0022523,GARD:0021834,,Rare immune disease +GARD:0021748,GARD:0022531,GARD:0018936,GARD:0002419,Rare genetic disease +GARD:0021748,GARD:0022531,GARD:0018936,GARD:0020094,Rare genetic disease +GARD:0021748,GARD:0022531,GARD:0018936,GARD:0016582,Rare genetic disease +GARD:0021748,GARD:0022531,GARD:0018936,GARD:0017692,Rare genetic disease +GARD:0021748,GARD:0022531,GARD:0018936,GARD:0017761,Rare genetic disease +GARD:0021748,GARD:0022531,GARD:0018936,GARD:0016908,Rare genetic disease +GARD:0021748,GARD:0022531,GARD:0018936,GARD:0005791,Rare genetic disease +GARD:0021748,GARD:0022531,GARD:0018936,GARD:0005818,Rare genetic disease +GARD:0021748,GARD:0022531,GARD:0018936,GARD:0017422,Rare genetic disease +GARD:0021748,GARD:0022531,GARD:0018936,GARD:0000701,Rare genetic disease +GARD:0021749,GARD:0022524,GARD:0018879,,Rare neurologic disease +GARD:0021749,GARD:0022524,GARD:0019389,,Rare neurologic disease +GARD:0021750,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021750,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0021750,GARD:0022513,GARD:0007687,,Rare developmental defect during embryogenesis +GARD:0021750,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021750,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0021750,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021750,GARD:0022531,GARD:0007687,,Rare genetic disease +GARD:0021750,GARD:0022511,GARD:0007687,,Rare bone disease +GARD:0021751,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021751,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0021751,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021751,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0021751,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021752,GARD:0022508,GARD:0018965,,Rare inborn errors of metabolism +GARD:0021752,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0021752,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0021752,GARD:0022531,GARD:0018965,,Rare genetic disease +GARD:0021752,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0021752,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0021752,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0021752,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0021753,GARD:0022513,GARD:0020339,GARD:0004528,Rare developmental defect during embryogenesis +GARD:0021753,GARD:0022513,GARD:0020064,GARD:0012491,Rare developmental defect during embryogenesis +GARD:0021753,GARD:0022531,GARD:0020241,GARD:0004528,Rare genetic disease +GARD:0021753,GARD:0022524,GARD:0019832,GARD:0004528,Rare neurologic disease +GARD:0021753,GARD:0022531,GARD:0021010,GARD:0012491,Rare genetic disease +GARD:0021753,GARD:0022531,GARD:0022441,GARD:0004528,Rare genetic disease +GARD:0021753,GARD:0022513,GARD:0020064,GARD:0004528,Rare developmental defect during embryogenesis +GARD:0021753,GARD:0022531,GARD:0022441,GARD:0012491,Rare genetic disease +GARD:0021753,GARD:0022513,GARD:0020339,GARD:0012491,Rare developmental defect during embryogenesis +GARD:0021753,GARD:0022513,GARD:0019832,GARD:0004528,Rare developmental defect during embryogenesis +GARD:0021753,GARD:0022524,GARD:0020241,GARD:0004528,Rare neurologic disease +GARD:0021753,GARD:0022532,GARD:0020064,GARD:0004528,Rare urogenital disease +GARD:0021753,GARD:0022531,GARD:0020064,GARD:0004528,Rare genetic disease +GARD:0021753,GARD:0022531,GARD:0020241,GARD:0012491,Rare genetic disease +GARD:0021753,GARD:0022524,GARD:0020339,GARD:0004528,Rare neurologic disease +GARD:0021753,GARD:0022531,GARD:0020064,GARD:0012491,Rare genetic disease +GARD:0021753,GARD:0022524,GARD:0020339,GARD:0012491,Rare neurologic disease +GARD:0021753,GARD:0022531,GARD:0021010,GARD:0004528,Rare genetic disease +GARD:0021753,GARD:0022513,GARD:0019832,GARD:0012491,Rare developmental defect during embryogenesis +GARD:0021753,GARD:0022524,GARD:0020241,GARD:0012491,Rare neurologic disease +GARD:0021753,GARD:0022524,GARD:0019832,GARD:0012491,Rare neurologic disease +GARD:0021753,GARD:0022532,GARD:0020064,GARD:0012491,Rare urogenital disease +GARD:0021754,GARD:0022524,GARD:0022524,GARD:0008610,Rare neurologic disease +GARD:0021754,GARD:0022524,GARD:0022524,GARD:0010664,Rare neurologic disease +GARD:0021754,GARD:0022524,GARD:0022524,GARD:0010428,Rare neurologic disease +GARD:0021754,GARD:0022524,GARD:0022524,GARD:0016909,Rare neurologic disease +GARD:0021754,GARD:0022524,GARD:0022524,GARD:0006657,Rare neurologic disease +GARD:0021754,GARD:0022524,GARD:0022524,GARD:0008535,Rare neurologic disease +GARD:0021754,GARD:0022524,GARD:0022524,GARD:0006205,Rare neurologic disease +GARD:0021755,GARD:0022531,GARD:0001908,,Rare genetic disease +GARD:0021755,GARD:0022513,GARD:0001908,,Rare developmental defect during embryogenesis +GARD:0021755,GARD:0022519,GARD:0001908,,Rare surgical cardiac disease +GARD:0021756,GARD:0022519,GARD:0001908,,Rare surgical cardiac disease +GARD:0021756,GARD:0022513,GARD:0001908,,Rare developmental defect during embryogenesis +GARD:0021756,GARD:0022531,GARD:0001908,,Rare genetic disease +GARD:0021757,GARD:0022516,GARD:0018857,GARD:0021743,Rare gastroenterologic disease +GARD:0021757,GARD:0022535,GARD:0018857,GARD:0021759,Rare neoplastic disease +GARD:0021757,GARD:0022516,GARD:0018857,GARD:0021362,Rare gastroenterologic disease +GARD:0021757,GARD:0022516,GARD:0018857,GARD:0018822,Rare gastroenterologic disease +GARD:0021757,GARD:0022516,GARD:0018857,GARD:0021758,Rare gastroenterologic disease +GARD:0021757,GARD:0022535,GARD:0018857,GARD:0018822,Rare neoplastic disease +GARD:0021757,GARD:0022535,GARD:0018857,GARD:0021758,Rare neoplastic disease +GARD:0021757,GARD:0022535,GARD:0018857,GARD:0021743,Rare neoplastic disease +GARD:0021757,GARD:0022535,GARD:0018857,GARD:0021362,Rare neoplastic disease +GARD:0021757,GARD:0022516,GARD:0018857,GARD:0021759,Rare gastroenterologic disease +GARD:0021758,GARD:0022516,GARD:0021757,GARD:0017416,Rare gastroenterologic disease +GARD:0021758,GARD:0022516,GARD:0021757,GARD:0010900,Rare gastroenterologic disease +GARD:0021758,GARD:0022535,GARD:0021757,GARD:0010900,Rare neoplastic disease +GARD:0021758,GARD:0022535,GARD:0021757,GARD:0017416,Rare neoplastic disease +GARD:0021759,GARD:0022535,GARD:0021757,,Rare neoplastic disease +GARD:0021759,GARD:0022516,GARD:0021757,,Rare gastroenterologic disease +GARD:0021760,GARD:0022516,GARD:0019848,GARD:0021761,Rare gastroenterologic disease +GARD:0021760,GARD:0022535,GARD:0019848,GARD:0009809,Rare neoplastic disease +GARD:0021760,GARD:0022535,GARD:0019848,GARD:0021761,Rare neoplastic disease +GARD:0021760,GARD:0022536,GARD:0019848,GARD:0021794,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021760,GARD:0022535,GARD:0019848,GARD:0021794,Rare neoplastic disease +GARD:0021760,GARD:0022536,GARD:0019848,GARD:0021761,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021760,GARD:0022516,GARD:0019848,GARD:0009809,Rare gastroenterologic disease +GARD:0021760,GARD:0022536,GARD:0019848,GARD:0009809,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021760,GARD:0022516,GARD:0019848,GARD:0021794,Rare gastroenterologic disease +GARD:0021761,GARD:0022536,GARD:0021760,GARD:0008598,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021761,GARD:0022516,GARD:0021760,GARD:0019852,Rare gastroenterologic disease +GARD:0021761,GARD:0022516,GARD:0021760,GARD:0008598,Rare gastroenterologic disease +GARD:0021761,GARD:0022535,GARD:0021760,GARD:0008598,Rare neoplastic disease +GARD:0021761,GARD:0022535,GARD:0021760,GARD:0019852,Rare neoplastic disease +GARD:0021761,GARD:0022536,GARD:0021760,GARD:0019852,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021762,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0021762,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0021763,GARD:0022535,GARD:0021794,GARD:0019851,Rare neoplastic disease +GARD:0021763,GARD:0022516,GARD:0021794,GARD:0021764,Rare gastroenterologic disease +GARD:0021763,GARD:0022516,GARD:0021794,GARD:0019851,Rare gastroenterologic disease +GARD:0021763,GARD:0022536,GARD:0021794,GARD:0021764,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021763,GARD:0022535,GARD:0021794,GARD:0021764,Rare neoplastic disease +GARD:0021763,GARD:0022536,GARD:0021794,GARD:0019851,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021764,GARD:0022536,GARD:0021763,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021764,GARD:0022535,GARD:0021763,,Rare neoplastic disease +GARD:0021764,GARD:0022516,GARD:0021763,,Rare gastroenterologic disease +GARD:0021765,GARD:0022536,GARD:0021794,GARD:0019751,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021765,GARD:0022535,GARD:0021985,GARD:0019751,Rare neoplastic disease +GARD:0021765,GARD:0022516,GARD:0021794,GARD:0019751,Rare gastroenterologic disease +GARD:0021765,GARD:0022535,GARD:0021985,GARD:0019752,Rare neoplastic disease +GARD:0021765,GARD:0022516,GARD:0021794,GARD:0019752,Rare gastroenterologic disease +GARD:0021765,GARD:0022535,GARD:0021794,GARD:0019751,Rare neoplastic disease +GARD:0021765,GARD:0022535,GARD:0021794,GARD:0019752,Rare neoplastic disease +GARD:0021765,GARD:0022521,GARD:0021985,GARD:0019751,Rare endocrine disease +GARD:0021765,GARD:0022536,GARD:0021794,GARD:0019752,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021765,GARD:0022516,GARD:0021794,GARD:0019753,Rare gastroenterologic disease +GARD:0021765,GARD:0022535,GARD:0021985,GARD:0019753,Rare neoplastic disease +GARD:0021765,GARD:0022521,GARD:0021985,GARD:0019753,Rare endocrine disease +GARD:0021765,GARD:0022521,GARD:0021985,GARD:0019752,Rare endocrine disease +GARD:0021765,GARD:0022535,GARD:0021794,GARD:0019753,Rare neoplastic disease +GARD:0021765,GARD:0022536,GARD:0021794,GARD:0019753,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021766,GARD:0022536,GARD:0019848,GARD:0019754,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021766,GARD:0022536,GARD:0019848,GARD:0021629,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021766,GARD:0022516,GARD:0019848,GARD:0021629,Rare gastroenterologic disease +GARD:0021766,GARD:0022535,GARD:0019848,GARD:0021629,Rare neoplastic disease +GARD:0021766,GARD:0022535,GARD:0019848,GARD:0019754,Rare neoplastic disease +GARD:0021766,GARD:0022516,GARD:0019848,GARD:0019754,Rare gastroenterologic disease +GARD:0021767,GARD:0022516,GARD:0019848,GARD:0019755,Rare gastroenterologic disease +GARD:0021767,GARD:0022536,GARD:0019848,GARD:0021768,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021767,GARD:0022535,GARD:0019848,GARD:0019755,Rare neoplastic disease +GARD:0021767,GARD:0022535,GARD:0019848,GARD:0021768,Rare neoplastic disease +GARD:0021767,GARD:0022536,GARD:0019848,GARD:0019755,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021767,GARD:0022516,GARD:0019848,GARD:0021768,Rare gastroenterologic disease +GARD:0021768,GARD:0022516,GARD:0021767,,Rare gastroenterologic disease +GARD:0021768,GARD:0022535,GARD:0021767,,Rare neoplastic disease +GARD:0021768,GARD:0022536,GARD:0021767,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021769,GARD:0022536,GARD:0019848,GARD:0019756,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021769,GARD:0022516,GARD:0019848,GARD:0021770,Rare gastroenterologic disease +GARD:0021769,GARD:0022516,GARD:0019848,GARD:0019756,Rare gastroenterologic disease +GARD:0021769,GARD:0022536,GARD:0019848,GARD:0021770,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021769,GARD:0022535,GARD:0019848,GARD:0021770,Rare neoplastic disease +GARD:0021769,GARD:0022535,GARD:0019848,GARD:0019756,Rare neoplastic disease +GARD:0021770,GARD:0022535,GARD:0021769,,Rare neoplastic disease +GARD:0021770,GARD:0022516,GARD:0021769,,Rare gastroenterologic disease +GARD:0021770,GARD:0022536,GARD:0021769,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021771,GARD:0022535,GARD:0019848,GARD:0019757,Rare neoplastic disease +GARD:0021771,GARD:0022536,GARD:0019848,GARD:0021772,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021771,GARD:0022536,GARD:0019848,GARD:0019757,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021771,GARD:0022516,GARD:0019848,GARD:0021772,Rare gastroenterologic disease +GARD:0021771,GARD:0022516,GARD:0019848,GARD:0019757,Rare gastroenterologic disease +GARD:0021771,GARD:0022535,GARD:0019848,GARD:0021772,Rare neoplastic disease +GARD:0021772,GARD:0022535,GARD:0021771,GARD:0021774,Rare neoplastic disease +GARD:0021772,GARD:0022516,GARD:0021771,GARD:0021774,Rare gastroenterologic disease +GARD:0021772,GARD:0022536,GARD:0021771,GARD:0021774,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021772,GARD:0022536,GARD:0021771,GARD:0021773,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021772,GARD:0022516,GARD:0021771,GARD:0021773,Rare gastroenterologic disease +GARD:0021772,GARD:0022535,GARD:0021771,GARD:0021773,Rare neoplastic disease +GARD:0021773,GARD:0022535,GARD:0021772,,Rare neoplastic disease +GARD:0021773,GARD:0022536,GARD:0021772,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021773,GARD:0022516,GARD:0021772,,Rare gastroenterologic disease +GARD:0021774,GARD:0022516,GARD:0021772,,Rare gastroenterologic disease +GARD:0021774,GARD:0022535,GARD:0021772,,Rare neoplastic disease +GARD:0021774,GARD:0022536,GARD:0021772,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021775,GARD:0022535,GARD:0009364,GARD:0022052,Rare neoplastic disease +GARD:0021775,GARD:0022516,GARD:0009364,GARD:0004210,Rare gastroenterologic disease +GARD:0021775,GARD:0022535,GARD:0009364,GARD:0022331,Rare neoplastic disease +GARD:0021775,GARD:0022516,GARD:0009364,GARD:0020511,Rare gastroenterologic disease +GARD:0021775,GARD:0022535,GARD:0009364,GARD:0020511,Rare neoplastic disease +GARD:0021775,GARD:0022516,GARD:0009364,GARD:0022052,Rare gastroenterologic disease +GARD:0021775,GARD:0022535,GARD:0009364,GARD:0004204,Rare neoplastic disease +GARD:0021775,GARD:0022516,GARD:0009364,GARD:0004204,Rare gastroenterologic disease +GARD:0021775,GARD:0022516,GARD:0009364,GARD:0022331,Rare gastroenterologic disease +GARD:0021775,GARD:0022535,GARD:0009364,GARD:0004210,Rare neoplastic disease +GARD:0021776,GARD:0022516,GARD:0020511,,Rare gastroenterologic disease +GARD:0021776,GARD:0022535,GARD:0020511,,Rare neoplastic disease +GARD:0021777,GARD:0022535,GARD:0020511,,Rare neoplastic disease +GARD:0021777,GARD:0022516,GARD:0020511,,Rare gastroenterologic disease +GARD:0021778,GARD:0022516,GARD:0020511,,Rare gastroenterologic disease +GARD:0021778,GARD:0022535,GARD:0020511,,Rare neoplastic disease +GARD:0021779,GARD:0022516,GARD:0020511,,Rare gastroenterologic disease +GARD:0021779,GARD:0022535,GARD:0020511,,Rare neoplastic disease +GARD:0021780,GARD:0022516,GARD:0020511,,Rare gastroenterologic disease +GARD:0021780,GARD:0022535,GARD:0020511,,Rare neoplastic disease +GARD:0021781,GARD:0022535,GARD:0020511,,Rare neoplastic disease +GARD:0021781,GARD:0022516,GARD:0020511,,Rare gastroenterologic disease +GARD:0021782,GARD:0022516,GARD:0020511,,Rare gastroenterologic disease +GARD:0021782,GARD:0022535,GARD:0020511,,Rare neoplastic disease +GARD:0021783,GARD:0022524,GARD:0005898,,Rare neurologic disease +GARD:0021783,GARD:0022531,GARD:0005898,,Rare genetic disease +GARD:0021783,GARD:0022531,GARD:0019567,,Rare genetic disease +GARD:0021783,GARD:0022524,GARD:0019567,,Rare neurologic disease +GARD:0021784,GARD:0022531,GARD:0020388,GARD:0017708,Rare genetic disease +GARD:0021785,GARD:0022506,GARD:0021257,GARD:0021786,Rare hepatic disease +GARD:0021785,GARD:0022536,GARD:0021257,GARD:0021786,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021785,GARD:0022536,GARD:0021257,GARD:0019760,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021785,GARD:0022535,GARD:0021257,GARD:0019760,Rare neoplastic disease +GARD:0021785,GARD:0022506,GARD:0021257,GARD:0019760,Rare hepatic disease +GARD:0021785,GARD:0022535,GARD:0021257,GARD:0021786,Rare neoplastic disease +GARD:0021786,GARD:0022506,GARD:0021785,GARD:0021790,Rare hepatic disease +GARD:0021786,GARD:0022535,GARD:0021785,GARD:0021790,Rare neoplastic disease +GARD:0021786,GARD:0022506,GARD:0021785,GARD:0021704,Rare hepatic disease +GARD:0021786,GARD:0022535,GARD:0021785,GARD:0021789,Rare neoplastic disease +GARD:0021786,GARD:0022506,GARD:0021785,GARD:0016773,Rare hepatic disease +GARD:0021786,GARD:0022535,GARD:0021785,GARD:0021787,Rare neoplastic disease +GARD:0021786,GARD:0022535,GARD:0021785,GARD:0021704,Rare neoplastic disease +GARD:0021786,GARD:0022536,GARD:0021785,GARD:0016773,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021786,GARD:0022536,GARD:0021785,GARD:0021790,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021786,GARD:0022536,GARD:0021785,GARD:0021787,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021786,GARD:0022506,GARD:0021785,GARD:0021789,Rare hepatic disease +GARD:0021786,GARD:0022536,GARD:0021785,GARD:0021788,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021786,GARD:0022536,GARD:0021785,GARD:0021704,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021786,GARD:0022535,GARD:0021785,GARD:0009304,Rare neoplastic disease +GARD:0021786,GARD:0022506,GARD:0021785,GARD:0022200,Rare hepatic disease +GARD:0021786,GARD:0022536,GARD:0021785,GARD:0009304,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021786,GARD:0022536,GARD:0021785,GARD:0022200,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021786,GARD:0022506,GARD:0021785,GARD:0021787,Rare hepatic disease +GARD:0021786,GARD:0022506,GARD:0021785,GARD:0021788,Rare hepatic disease +GARD:0021786,GARD:0022506,GARD:0021785,GARD:0009304,Rare hepatic disease +GARD:0021786,GARD:0022536,GARD:0021785,GARD:0021789,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021786,GARD:0022535,GARD:0021785,GARD:0021788,Rare neoplastic disease +GARD:0021786,GARD:0022535,GARD:0021785,GARD:0016773,Rare neoplastic disease +GARD:0021786,GARD:0022535,GARD:0021785,GARD:0022200,Rare neoplastic disease +GARD:0021787,GARD:0022536,GARD:0021786,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021787,GARD:0022535,GARD:0021786,,Rare neoplastic disease +GARD:0021787,GARD:0022506,GARD:0021786,,Rare hepatic disease +GARD:0021788,GARD:0022506,GARD:0021786,,Rare hepatic disease +GARD:0021788,GARD:0022536,GARD:0021786,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021788,GARD:0022535,GARD:0021786,,Rare neoplastic disease +GARD:0021789,GARD:0022506,GARD:0021786,,Rare hepatic disease +GARD:0021789,GARD:0022535,GARD:0021786,,Rare neoplastic disease +GARD:0021789,GARD:0022536,GARD:0021786,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021790,GARD:0022506,GARD:0021786,,Rare hepatic disease +GARD:0021790,GARD:0022536,GARD:0021786,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021790,GARD:0022535,GARD:0021786,,Rare neoplastic disease +GARD:0021791,GARD:0022506,GARD:0018850,,Rare hepatic disease +GARD:0021791,GARD:0022535,GARD:0018850,,Rare neoplastic disease +GARD:0021791,GARD:0022536,GARD:0018850,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021792,GARD:0022536,GARD:0018850,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021792,GARD:0022535,GARD:0018850,,Rare neoplastic disease +GARD:0021792,GARD:0022506,GARD:0018850,,Rare hepatic disease +GARD:0021793,GARD:0022531,GARD:0019921,GARD:0019847,Rare genetic disease +GARD:0021793,GARD:0022516,GARD:0022516,GARD:0008533,Rare gastroenterologic disease +GARD:0021793,GARD:0022531,GARD:0019921,GARD:0016901,Rare genetic disease +GARD:0021793,GARD:0022535,GARD:0019921,GARD:0003830,Rare neoplastic disease +GARD:0021793,GARD:0022535,GARD:0019921,GARD:0003829,Rare neoplastic disease +GARD:0021793,GARD:0022535,GARD:0019921,GARD:0019847,Rare neoplastic disease +GARD:0021793,GARD:0022535,GARD:0019921,GARD:0016901,Rare neoplastic disease +GARD:0021793,GARD:0022535,GARD:0019921,GARD:0008533,Rare neoplastic disease +GARD:0021793,GARD:0022516,GARD:0022516,GARD:0016901,Rare gastroenterologic disease +GARD:0021793,GARD:0022531,GARD:0019921,GARD:0003830,Rare genetic disease +GARD:0021793,GARD:0022531,GARD:0019921,GARD:0008533,Rare genetic disease +GARD:0021793,GARD:0022535,GARD:0019921,GARD:0021899,Rare neoplastic disease +GARD:0021793,GARD:0022516,GARD:0022516,GARD:0019847,Rare gastroenterologic disease +GARD:0021793,GARD:0022516,GARD:0022516,GARD:0021899,Rare gastroenterologic disease +GARD:0021793,GARD:0022516,GARD:0022516,GARD:0003830,Rare gastroenterologic disease +GARD:0021793,GARD:0022531,GARD:0019921,GARD:0021899,Rare genetic disease +GARD:0021793,GARD:0022531,GARD:0019921,GARD:0003829,Rare genetic disease +GARD:0021793,GARD:0022516,GARD:0022516,GARD:0003829,Rare gastroenterologic disease +GARD:0021794,GARD:0022536,GARD:0021760,GARD:0021763,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021794,GARD:0022516,GARD:0021760,GARD:0021765,Rare gastroenterologic disease +GARD:0021794,GARD:0022535,GARD:0021760,GARD:0021765,Rare neoplastic disease +GARD:0021794,GARD:0022516,GARD:0021760,GARD:0021763,Rare gastroenterologic disease +GARD:0021794,GARD:0022535,GARD:0021760,GARD:0021763,Rare neoplastic disease +GARD:0021794,GARD:0022536,GARD:0021760,GARD:0021765,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021795,GARD:0022531,GARD:0019810,GARD:0017711,Rare genetic disease +GARD:0021795,GARD:0022523,GARD:0019810,GARD:0022318,Rare immune disease +GARD:0021795,GARD:0022531,GARD:0019810,GARD:0022318,Rare genetic disease +GARD:0021795,GARD:0022531,GARD:0019810,GARD:0017732,Rare genetic disease +GARD:0021795,GARD:0022523,GARD:0019810,GARD:0017711,Rare immune disease +GARD:0021795,GARD:0022523,GARD:0019810,GARD:0017732,Rare immune disease +GARD:0021796,GARD:0022524,GARD:0020360,GARD:0010313,Rare neurologic disease +GARD:0021796,GARD:0022524,GARD:0020360,GARD:0007608,Rare neurologic disease +GARD:0021796,GARD:0022531,GARD:0020360,GARD:0007608,Rare genetic disease +GARD:0021796,GARD:0022531,GARD:0020360,GARD:0010313,Rare genetic disease +GARD:0021797,GARD:0022531,GARD:0019772,GARD:0017474,Rare genetic disease +GARD:0021797,GARD:0022520,GARD:0021845,GARD:0017474,Rare ophthalmic disorder +GARD:0021797,GARD:0022524,GARD:0006034,GARD:0017842,Rare neurologic disease +GARD:0021797,GARD:0022531,GARD:0019772,GARD:0017712,Rare genetic disease +GARD:0021797,GARD:0022531,GARD:0021845,GARD:0017842,Rare genetic disease +GARD:0021797,GARD:0022524,GARD:0019772,GARD:0017479,Rare neurologic disease +GARD:0021797,GARD:0022531,GARD:0006034,GARD:0017712,Rare genetic disease +GARD:0021797,GARD:0022520,GARD:0021845,GARD:0017479,Rare ophthalmic disorder +GARD:0021797,GARD:0022531,GARD:0021845,GARD:0017479,Rare genetic disease +GARD:0021797,GARD:0022520,GARD:0021845,GARD:0017842,Rare ophthalmic disorder +GARD:0021797,GARD:0022524,GARD:0019772,GARD:0017474,Rare neurologic disease +GARD:0021797,GARD:0022531,GARD:0021845,GARD:0017474,Rare genetic disease +GARD:0021797,GARD:0022531,GARD:0006034,GARD:0017474,Rare genetic disease +GARD:0021797,GARD:0022531,GARD:0021845,GARD:0017712,Rare genetic disease +GARD:0021797,GARD:0022531,GARD:0006034,GARD:0017842,Rare genetic disease +GARD:0021797,GARD:0022524,GARD:0006034,GARD:0017712,Rare neurologic disease +GARD:0021797,GARD:0022524,GARD:0006034,GARD:0017474,Rare neurologic disease +GARD:0021797,GARD:0022531,GARD:0019772,GARD:0017479,Rare genetic disease +GARD:0021797,GARD:0022531,GARD:0019772,GARD:0017842,Rare genetic disease +GARD:0021797,GARD:0022524,GARD:0006034,GARD:0017479,Rare neurologic disease +GARD:0021797,GARD:0022524,GARD:0019772,GARD:0017842,Rare neurologic disease +GARD:0021797,GARD:0022524,GARD:0019772,GARD:0017712,Rare neurologic disease +GARD:0021797,GARD:0022520,GARD:0021845,GARD:0017712,Rare ophthalmic disorder +GARD:0021797,GARD:0022531,GARD:0006034,GARD:0017479,Rare genetic disease +GARD:0021798,GARD:0022532,GARD:0021814,,Rare urogenital disease +GARD:0021798,GARD:0022536,GARD:0021814,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021798,GARD:0022512,GARD:0021814,,Rare renal disease +GARD:0021798,GARD:0022513,GARD:0021814,,Rare developmental defect during embryogenesis +GARD:0021799,GARD:0022512,GARD:0021814,,Rare renal disease +GARD:0021799,GARD:0022513,GARD:0021814,,Rare developmental defect during embryogenesis +GARD:0021799,GARD:0022536,GARD:0021814,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021799,GARD:0022532,GARD:0021814,,Rare urogenital disease +GARD:0021800,GARD:0022536,GARD:0021814,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021800,GARD:0022513,GARD:0021814,,Rare developmental defect during embryogenesis +GARD:0021800,GARD:0022512,GARD:0021814,,Rare renal disease +GARD:0021800,GARD:0022532,GARD:0021814,,Rare urogenital disease +GARD:0021801,GARD:0022531,GARD:0020007,GARD:0010153,Rare genetic disease +GARD:0021801,GARD:0022531,GARD:0020007,GARD:0015027,Rare genetic disease +GARD:0021801,GARD:0022517,GARD:0018904,GARD:0010153,Rare respiratory disease +GARD:0021801,GARD:0022517,GARD:0018904,GARD:0015027,Rare respiratory disease +GARD:0021802,GARD:0022531,GARD:0018915,GARD:0008535,Rare genetic disease +GARD:0021802,GARD:0022531,GARD:0018915,GARD:0008610,Rare genetic disease +GARD:0021802,GARD:0022531,GARD:0018915,GARD:0016909,Rare genetic disease +GARD:0021802,GARD:0022531,GARD:0018915,GARD:0006205,Rare genetic disease +GARD:0021803,GARD:0022531,GARD:0018998,GARD:0005595,Rare genetic disease +GARD:0021803,GARD:0022510,GARD:0018998,GARD:0005231,Rare skin disease +GARD:0021803,GARD:0022531,GARD:0018998,GARD:0005231,Rare genetic disease +GARD:0021803,GARD:0022510,GARD:0018998,GARD:0017697,Rare skin disease +GARD:0021803,GARD:0022510,GARD:0018998,GARD:0005595,Rare skin disease +GARD:0021803,GARD:0022510,GARD:0018998,GARD:0009795,Rare skin disease +GARD:0021803,GARD:0022531,GARD:0018998,GARD:0009795,Rare genetic disease +GARD:0021803,GARD:0022531,GARD:0018998,GARD:0017697,Rare genetic disease +GARD:0021804,GARD:0022513,GARD:0020253,GARD:0018678,Rare developmental defect during embryogenesis +GARD:0021804,GARD:0022513,GARD:0019217,GARD:0007479,Rare developmental defect during embryogenesis +GARD:0021804,GARD:0022536,GARD:0019217,GARD:0021805,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021804,GARD:0022532,GARD:0020253,GARD:0007479,Rare urogenital disease +GARD:0021804,GARD:0022536,GARD:0019217,GARD:0007479,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021804,GARD:0022513,GARD:0020253,GARD:0007479,Rare developmental defect during embryogenesis +GARD:0021804,GARD:0022531,GARD:0021540,GARD:0018678,Rare genetic disease +GARD:0021804,GARD:0022532,GARD:0020253,GARD:0018678,Rare urogenital disease +GARD:0021804,GARD:0022531,GARD:0021540,GARD:0021805,Rare genetic disease +GARD:0021804,GARD:0022536,GARD:0020253,GARD:0018678,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021804,GARD:0022513,GARD:0019217,GARD:0021805,Rare developmental defect during embryogenesis +GARD:0021804,GARD:0022513,GARD:0020253,GARD:0007439,Rare developmental defect during embryogenesis +GARD:0021804,GARD:0022536,GARD:0019217,GARD:0018678,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021804,GARD:0022536,GARD:0020253,GARD:0021805,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021804,GARD:0022512,GARD:0019217,GARD:0007479,Rare renal disease +GARD:0021804,GARD:0022536,GARD:0019217,GARD:0007439,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021804,GARD:0022532,GARD:0020253,GARD:0021805,Rare urogenital disease +GARD:0021804,GARD:0022512,GARD:0019217,GARD:0021805,Rare renal disease +GARD:0021804,GARD:0022513,GARD:0020253,GARD:0021805,Rare developmental defect during embryogenesis +GARD:0021804,GARD:0022512,GARD:0019217,GARD:0007439,Rare renal disease +GARD:0021804,GARD:0022512,GARD:0019217,GARD:0018678,Rare renal disease +GARD:0021804,GARD:0022531,GARD:0021540,GARD:0007479,Rare genetic disease +GARD:0021804,GARD:0022536,GARD:0020253,GARD:0007439,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021804,GARD:0022513,GARD:0019217,GARD:0007439,Rare developmental defect during embryogenesis +GARD:0021804,GARD:0022532,GARD:0020253,GARD:0007439,Rare urogenital disease +GARD:0021804,GARD:0022513,GARD:0019217,GARD:0018678,Rare developmental defect during embryogenesis +GARD:0021804,GARD:0022531,GARD:0021540,GARD:0007439,Rare genetic disease +GARD:0021804,GARD:0022536,GARD:0020253,GARD:0007479,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021805,GARD:0022536,GARD:0021804,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021805,GARD:0022531,GARD:0021804,,Rare genetic disease +GARD:0021805,GARD:0022532,GARD:0021804,,Rare urogenital disease +GARD:0021805,GARD:0022512,GARD:0021804,,Rare renal disease +GARD:0021805,GARD:0022513,GARD:0021804,,Rare developmental defect during embryogenesis +GARD:0021806,GARD:0022531,GARD:0020011,GARD:0020141,Rare genetic disease +GARD:0021806,GARD:0022531,GARD:0020011,GARD:0020119,Rare genetic disease +GARD:0021807,GARD:0022514,GARD:0020200,GARD:0006995,Rare gynecologic or obstetric disease +GARD:0021807,GARD:0022514,GARD:0020200,GARD:0016546,Rare gynecologic or obstetric disease +GARD:0021807,GARD:0022514,GARD:0020200,GARD:0012494,Rare gynecologic or obstetric disease +GARD:0021808,GARD:0022531,GARD:0020341,GARD:0006995,Rare genetic disease +GARD:0021808,GARD:0022531,GARD:0020341,GARD:0020119,Rare genetic disease +GARD:0021808,GARD:0022531,GARD:0020341,GARD:0012494,Rare genetic disease +GARD:0021809,GARD:0022531,GARD:0020303,GARD:0021811,Rare genetic disease +GARD:0021809,GARD:0022531,GARD:0020303,GARD:0021810,Rare genetic disease +GARD:0021809,GARD:0022531,GARD:0021935,GARD:0021811,Rare genetic disease +GARD:0021809,GARD:0022531,GARD:0020303,GARD:0019999,Rare genetic disease +GARD:0021809,GARD:0022531,GARD:0020303,GARD:0021812,Rare genetic disease +GARD:0021809,GARD:0022531,GARD:0021935,GARD:0019999,Rare genetic disease +GARD:0021809,GARD:0022531,GARD:0021935,GARD:0021812,Rare genetic disease +GARD:0021809,GARD:0022531,GARD:0021935,GARD:0021810,Rare genetic disease +GARD:0021810,GARD:0022531,GARD:0021809,GARD:0000884,Rare genetic disease +GARD:0021810,GARD:0022531,GARD:0021809,GARD:0010595,Rare genetic disease +GARD:0021810,GARD:0022531,GARD:0021809,GARD:0017784,Rare genetic disease +GARD:0021810,GARD:0022531,GARD:0021809,GARD:0016898,Rare genetic disease +GARD:0021810,GARD:0022531,GARD:0021809,GARD:0004627,Rare genetic disease +GARD:0021810,GARD:0022531,GARD:0021809,GARD:0019882,Rare genetic disease +GARD:0021810,GARD:0022531,GARD:0021809,GARD:0022366,Rare genetic disease +GARD:0021810,GARD:0022531,GARD:0021809,GARD:0010041,Rare genetic disease +GARD:0021810,GARD:0022531,GARD:0021809,GARD:0008755,Rare genetic disease +GARD:0021810,GARD:0022531,GARD:0021809,GARD:0004238,Rare genetic disease +GARD:0021810,GARD:0022531,GARD:0021809,GARD:0006848,Rare genetic disease +GARD:0021811,GARD:0022531,GARD:0021809,GARD:0003194,Rare genetic disease +GARD:0021811,GARD:0022531,GARD:0021809,GARD:0005470,Rare genetic disease +GARD:0021811,GARD:0022531,GARD:0021809,GARD:0016596,Rare genetic disease +GARD:0021811,GARD:0022531,GARD:0021809,GARD:0005509,Rare genetic disease +GARD:0021811,GARD:0022531,GARD:0021809,GARD:0006865,Rare genetic disease +GARD:0021812,GARD:0022531,GARD:0021809,GARD:0012008,Rare genetic disease +GARD:0021812,GARD:0022531,GARD:0021809,GARD:0010515,Rare genetic disease +GARD:0021813,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0021813,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0021813,GARD:0022513,GARD:0000037,,Rare developmental defect during embryogenesis +GARD:0021813,GARD:0022531,GARD:0000037,,Rare genetic disease +GARD:0021814,GARD:0022513,GARD:0019217,GARD:0021800,Rare developmental defect during embryogenesis +GARD:0021814,GARD:0022536,GARD:0019217,GARD:0021800,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021814,GARD:0022532,GARD:0020253,GARD:0005425,Rare urogenital disease +GARD:0021814,GARD:0022536,GARD:0019217,GARD:0005425,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021814,GARD:0022512,GARD:0019217,GARD:0021799,Rare renal disease +GARD:0021814,GARD:0022536,GARD:0020253,GARD:0021800,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021814,GARD:0022512,GARD:0019217,GARD:0005425,Rare renal disease +GARD:0021814,GARD:0022513,GARD:0020253,GARD:0021800,Rare developmental defect during embryogenesis +GARD:0021814,GARD:0022512,GARD:0019217,GARD:0021798,Rare renal disease +GARD:0021814,GARD:0022536,GARD:0019217,GARD:0021798,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021814,GARD:0022512,GARD:0019217,GARD:0021800,Rare renal disease +GARD:0021814,GARD:0022532,GARD:0020253,GARD:0021799,Rare urogenital disease +GARD:0021814,GARD:0022513,GARD:0020253,GARD:0021798,Rare developmental defect during embryogenesis +GARD:0021814,GARD:0022513,GARD:0020253,GARD:0021799,Rare developmental defect during embryogenesis +GARD:0021814,GARD:0022536,GARD:0020253,GARD:0021798,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021814,GARD:0022513,GARD:0019217,GARD:0021799,Rare developmental defect during embryogenesis +GARD:0021814,GARD:0022513,GARD:0020253,GARD:0005425,Rare developmental defect during embryogenesis +GARD:0021814,GARD:0022536,GARD:0019217,GARD:0021799,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021814,GARD:0022513,GARD:0019217,GARD:0021798,Rare developmental defect during embryogenesis +GARD:0021814,GARD:0022532,GARD:0020253,GARD:0021800,Rare urogenital disease +GARD:0021814,GARD:0022532,GARD:0020253,GARD:0021798,Rare urogenital disease +GARD:0021814,GARD:0022536,GARD:0020253,GARD:0005425,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021814,GARD:0022513,GARD:0019217,GARD:0005425,Rare developmental defect during embryogenesis +GARD:0021814,GARD:0022536,GARD:0020253,GARD:0021799,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021815,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0021815,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0021816,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021816,GARD:0022528,GARD:0019896,,Rare otorhinolaryngologic disease +GARD:0021816,GARD:0022513,GARD:0020825,,Rare developmental defect during embryogenesis +GARD:0021816,GARD:0022531,GARD:0019896,,Rare genetic disease +GARD:0021816,GARD:0022513,GARD:0019896,,Rare developmental defect during embryogenesis +GARD:0021816,GARD:0022507,GARD:0019896,,Rare maxillo-facial surgical disease +GARD:0021816,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021816,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021816,GARD:0022531,GARD:0020825,,Rare genetic disease +GARD:0021817,GARD:0022520,GARD:0019542,,Rare ophthalmic disorder +GARD:0021817,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0021817,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021817,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021817,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021818,GARD:0022521,GARD:0020214,,Rare endocrine disease +GARD:0021818,GARD:0022531,GARD:0020214,,Rare genetic disease +GARD:0021819,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0021819,GARD:0022508,GARD:0020760,,Rare inborn errors of metabolism +GARD:0021819,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0021819,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0021819,GARD:0022531,GARD:0020760,,Rare genetic disease +GARD:0021819,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0021819,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0021819,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0021820,GARD:0022531,GARD:0019538,,Rare genetic disease +GARD:0021820,GARD:0022531,GARD:0020574,,Rare genetic disease +GARD:0021820,GARD:0022510,GARD:0020574,,Rare skin disease +GARD:0021820,GARD:0022520,GARD:0019538,,Rare ophthalmic disorder +GARD:0021821,GARD:0022508,GARD:0018954,GARD:0017733,Rare inborn errors of metabolism +GARD:0021821,GARD:0022531,GARD:0018954,GARD:0017733,Rare genetic disease +GARD:0021822,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0021823,GARD:0022514,GARD:0020049,,Rare gynecologic or obstetric disease +GARD:0021824,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0021824,GARD:0022527,GARD:0022014,,Rare circulatory system disease +GARD:0021825,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0021826,GARD:0022524,GARD:0020243,,Rare neurologic disease +GARD:0021827,GARD:0022525,GARD:0018676,,Rare systemic or rheumatologic disease +GARD:0021827,GARD:0022536,GARD:0018676,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021828,GARD:0022536,GARD:0022291,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021828,GARD:0022536,GARD:0018676,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021828,GARD:0022512,GARD:0022291,,Rare renal disease +GARD:0021828,GARD:0022525,GARD:0018676,,Rare systemic or rheumatologic disease +GARD:0021829,GARD:0022525,GARD:0018676,GARD:0019065,Rare systemic or rheumatologic disease +GARD:0021829,GARD:0022525,GARD:0018676,GARD:0021382,Rare systemic or rheumatologic disease +GARD:0021829,GARD:0022536,GARD:0018676,GARD:0019065,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021829,GARD:0022536,GARD:0018676,GARD:0021382,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021830,GARD:0022524,GARD:0007360,GARD:0007415,Rare neurologic disease +GARD:0021830,GARD:0022524,GARD:0007360,GARD:0021833,Rare neurologic disease +GARD:0021830,GARD:0022527,GARD:0007360,GARD:0021832,Rare circulatory system disease +GARD:0021830,GARD:0022524,GARD:0007360,GARD:0021832,Rare neurologic disease +GARD:0021830,GARD:0022525,GARD:0007360,GARD:0007415,Rare systemic or rheumatologic disease +GARD:0021830,GARD:0022512,GARD:0007360,GARD:0021832,Rare renal disease +GARD:0021830,GARD:0022536,GARD:0007360,GARD:0021832,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021830,GARD:0022536,GARD:0007360,GARD:0021833,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021830,GARD:0022536,GARD:0007360,GARD:0007415,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021830,GARD:0022525,GARD:0007360,GARD:0021832,Rare systemic or rheumatologic disease +GARD:0021830,GARD:0022512,GARD:0007360,GARD:0021833,Rare renal disease +GARD:0021830,GARD:0022525,GARD:0007360,GARD:0021833,Rare systemic or rheumatologic disease +GARD:0021830,GARD:0022512,GARD:0007360,GARD:0007415,Rare renal disease +GARD:0021830,GARD:0022527,GARD:0007360,GARD:0021833,Rare circulatory system disease +GARD:0021830,GARD:0022527,GARD:0007360,GARD:0007415,Rare circulatory system disease +GARD:0021831,GARD:0022525,GARD:0007360,,Rare systemic or rheumatologic disease +GARD:0021831,GARD:0022536,GARD:0007360,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021831,GARD:0022512,GARD:0007360,,Rare renal disease +GARD:0021831,GARD:0022524,GARD:0007360,,Rare neurologic disease +GARD:0021831,GARD:0022527,GARD:0007360,,Rare circulatory system disease +GARD:0021832,GARD:0022536,GARD:0021830,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021832,GARD:0022527,GARD:0021830,,Rare circulatory system disease +GARD:0021832,GARD:0022512,GARD:0021830,,Rare renal disease +GARD:0021832,GARD:0022524,GARD:0021830,,Rare neurologic disease +GARD:0021832,GARD:0022525,GARD:0021830,,Rare systemic or rheumatologic disease +GARD:0021833,GARD:0022527,GARD:0021830,,Rare circulatory system disease +GARD:0021833,GARD:0022536,GARD:0021830,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021833,GARD:0022525,GARD:0021830,,Rare systemic or rheumatologic disease +GARD:0021833,GARD:0022512,GARD:0021830,,Rare renal disease +GARD:0021833,GARD:0022524,GARD:0021830,,Rare neurologic disease +GARD:0021834,GARD:0022536,GARD:0013592,GARD:0021747,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021834,GARD:0022523,GARD:0013592,GARD:0021747,Rare immune disease +GARD:0021834,GARD:0022531,GARD:0013592,GARD:0017698,Rare genetic disease +GARD:0021834,GARD:0022523,GARD:0013592,GARD:0000302,Rare immune disease +GARD:0021834,GARD:0022531,GARD:0013592,GARD:0017511,Rare genetic disease +GARD:0021834,GARD:0022523,GARD:0013592,GARD:0017511,Rare immune disease +GARD:0021834,GARD:0022536,GARD:0013592,GARD:0000302,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021834,GARD:0022531,GARD:0013592,GARD:0017702,Rare genetic disease +GARD:0021834,GARD:0022531,GARD:0013592,GARD:0000302,Rare genetic disease +GARD:0021834,GARD:0022536,GARD:0013592,GARD:0017511,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021834,GARD:0022536,GARD:0013592,GARD:0017702,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021834,GARD:0022523,GARD:0013592,GARD:0017698,Rare immune disease +GARD:0021834,GARD:0022523,GARD:0013592,GARD:0017702,Rare immune disease +GARD:0021834,GARD:0022531,GARD:0013592,GARD:0021747,Rare genetic disease +GARD:0021834,GARD:0022536,GARD:0013592,GARD:0017698,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021835,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0021836,GARD:0022531,GARD:0019544,,Rare genetic disease +GARD:0021836,GARD:0022520,GARD:0019544,,Rare ophthalmic disorder +GARD:0021837,GARD:0022520,GARD:0022119,,Rare ophthalmic disorder +GARD:0021837,GARD:0022531,GARD:0022152,,Rare genetic disease +GARD:0021838,GARD:0022511,GARD:0019195,,Rare bone disease +GARD:0021838,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0021838,GARD:0022513,GARD:0019195,,Rare developmental defect during embryogenesis +GARD:0021838,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0021838,GARD:0022531,GARD:0019195,,Rare genetic disease +GARD:0021838,GARD:0022531,GARD:0019187,,Rare genetic disease +GARD:0021838,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0021839,GARD:0022509,GARD:0020044,,Rare infectious disease +GARD:0021840,GARD:0022516,GARD:0008533,,Rare gastroenterologic disease +GARD:0021840,GARD:0022531,GARD:0008533,,Rare genetic disease +GARD:0021840,GARD:0022535,GARD:0008533,,Rare neoplastic disease +GARD:0021841,GARD:0022531,GARD:0018946,GARD:0000418,Rare genetic disease +GARD:0021841,GARD:0022508,GARD:0018946,GARD:0000418,Rare inborn errors of metabolism +GARD:0021841,GARD:0022508,GARD:0018946,GARD:0018962,Rare inborn errors of metabolism +GARD:0021841,GARD:0022531,GARD:0018946,GARD:0018962,Rare genetic disease +GARD:0021842,GARD:0022520,GARD:0022120,,Rare ophthalmic disorder +GARD:0021843,GARD:0022520,GARD:0019795,,Rare ophthalmic disorder +GARD:0021843,GARD:0022535,GARD:0019795,,Rare neoplastic disease +GARD:0021844,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0017960,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0008331,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0013264,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0009977,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0021990,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0010708,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0008331,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0003230,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0001188,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0021797,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0017523,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0022231,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0004927,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0000400,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0004265,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0006844,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0004265,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0017774,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0013264,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0013488,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0010199,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0022231,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0017911,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0017683,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0001188,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0006844,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0017910,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0004927,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0017774,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0017960,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0017983,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0022015,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0005663,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0017809,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0009977,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0021990,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0012903,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0017143,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0007898,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0013488,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0000400,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0000114,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0012569,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0004264,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0007898,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0017683,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0010199,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0010945,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0012903,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0021904,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0000114,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0005611,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0017983,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0004923,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0004923,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0017915,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0012569,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0005611,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0017523,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0010945,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0009993,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0010708,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0017911,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0009993,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0017910,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0022015,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0017915,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0010810,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0007627,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0007144,Rare genetic disease +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0017143,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0007144,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0005663,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0003230,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0007627,Rare ophthalmic disorder +GARD:0021845,GARD:0022531,GARD:0019540,GARD:0010810,Rare genetic disease +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0004264,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0017809,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0021904,Rare ophthalmic disorder +GARD:0021845,GARD:0022520,GARD:0019540,GARD:0021797,Rare ophthalmic disorder +GARD:0021846,GARD:0022513,GARD:0016888,,Rare developmental defect during embryogenesis +GARD:0021846,GARD:0022520,GARD:0016888,,Rare ophthalmic disorder +GARD:0021846,GARD:0022531,GARD:0016888,,Rare genetic disease +GARD:0021847,GARD:0022525,GARD:0018676,,Rare systemic or rheumatologic disease +GARD:0021847,GARD:0022512,GARD:0022291,,Rare renal disease +GARD:0021847,GARD:0022536,GARD:0022291,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021847,GARD:0022536,GARD:0018676,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021848,GARD:0022532,GARD:0021471,GARD:0017752,Rare urogenital disease +GARD:0021848,GARD:0022521,GARD:0021471,GARD:0017752,Rare endocrine disease +GARD:0021848,GARD:0022536,GARD:0021471,GARD:0017752,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021848,GARD:0022531,GARD:0021471,GARD:0017752,Rare genetic disease +GARD:0021848,GARD:0022513,GARD:0021471,GARD:0017752,Rare developmental defect during embryogenesis +GARD:0021849,GARD:0022521,GARD:0022521,GARD:0010808,Rare endocrine disease +GARD:0021849,GARD:0022521,GARD:0022521,GARD:0021053,Rare endocrine disease +GARD:0021850,GARD:0022521,GARD:0020218,,Rare endocrine disease +GARD:0021850,GARD:0022524,GARD:0020742,,Rare neurologic disease +GARD:0021851,GARD:0022535,GARD:0021244,,Rare neoplastic disease +GARD:0021851,GARD:0022536,GARD:0021244,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021851,GARD:0022522,GARD:0021244,,Rare hematologic disease +GARD:0021852,GARD:0022535,GARD:0019401,,Rare neoplastic disease +GARD:0021853,GARD:0022524,GARD:0019389,,Rare neurologic disease +GARD:0021853,GARD:0022514,GARD:0020049,,Rare gynecologic or obstetric disease +GARD:0021854,GARD:0022524,GARD:0019387,,Rare neurologic disease +GARD:0021855,GARD:0022509,GARD:0018704,,Rare infectious disease +GARD:0021856,GARD:0022521,GARD:0019700,GARD:0000558,Rare endocrine disease +GARD:0021856,GARD:0022529,GARD:0019700,GARD:0000558,Rare infertility +GARD:0021857,GARD:0022535,GARD:0021145,,Rare neoplastic disease +GARD:0021858,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021858,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021858,GARD:0022531,GARD:0020831,,Rare genetic disease +GARD:0021858,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021858,GARD:0022513,GARD:0020831,,Rare developmental defect during embryogenesis +GARD:0021859,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021859,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021859,GARD:0022531,GARD:0020839,,Rare genetic disease +GARD:0021859,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021859,GARD:0022513,GARD:0020839,,Rare developmental defect during embryogenesis +GARD:0021860,GARD:0022525,GARD:0021657,,Rare systemic or rheumatologic disease +GARD:0021860,GARD:0022511,GARD:0021657,,Rare bone disease +GARD:0021861,GARD:0022512,GARD:0019230,GARD:0004553,Rare renal disease +GARD:0021861,GARD:0022512,GARD:0019230,GARD:0019176,Rare renal disease +GARD:0021861,GARD:0022512,GARD:0019230,GARD:0016545,Rare renal disease +GARD:0021862,GARD:0022513,GARD:0019874,GARD:0006007,Rare developmental defect during embryogenesis +GARD:0021862,GARD:0022513,GARD:0019871,GARD:0000215,Rare developmental defect during embryogenesis +GARD:0021862,GARD:0022532,GARD:0020064,GARD:0000215,Rare urogenital disease +GARD:0021862,GARD:0022531,GARD:0020064,GARD:0006007,Rare genetic disease +GARD:0021862,GARD:0022513,GARD:0019871,GARD:0006007,Rare developmental defect during embryogenesis +GARD:0021862,GARD:0022531,GARD:0021728,GARD:0006007,Rare genetic disease +GARD:0021862,GARD:0022531,GARD:0020064,GARD:0000215,Rare genetic disease +GARD:0021862,GARD:0022513,GARD:0019874,GARD:0007652,Rare developmental defect during embryogenesis +GARD:0021862,GARD:0022536,GARD:0019874,GARD:0006007,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021862,GARD:0022531,GARD:0019874,GARD:0007652,Rare genetic disease +GARD:0021862,GARD:0022513,GARD:0020064,GARD:0000215,Rare developmental defect during embryogenesis +GARD:0021862,GARD:0022536,GARD:0019874,GARD:0000215,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021862,GARD:0022513,GARD:0019871,GARD:0007652,Rare developmental defect during embryogenesis +GARD:0021862,GARD:0022532,GARD:0020064,GARD:0006007,Rare urogenital disease +GARD:0021862,GARD:0022534,GARD:0019874,GARD:0007652,Rare abdominal surgical disease +GARD:0021862,GARD:0022534,GARD:0019874,GARD:0000215,Rare abdominal surgical disease +GARD:0021862,GARD:0022513,GARD:0019874,GARD:0000215,Rare developmental defect during embryogenesis +GARD:0021862,GARD:0022531,GARD:0019874,GARD:0000215,Rare genetic disease +GARD:0021862,GARD:0022532,GARD:0020064,GARD:0007652,Rare urogenital disease +GARD:0021862,GARD:0022531,GARD:0019874,GARD:0006007,Rare genetic disease +GARD:0021862,GARD:0022531,GARD:0021728,GARD:0000215,Rare genetic disease +GARD:0021862,GARD:0022513,GARD:0020064,GARD:0006007,Rare developmental defect during embryogenesis +GARD:0021862,GARD:0022531,GARD:0021728,GARD:0007652,Rare genetic disease +GARD:0021862,GARD:0022536,GARD:0019874,GARD:0007652,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021862,GARD:0022513,GARD:0020064,GARD:0007652,Rare developmental defect during embryogenesis +GARD:0021862,GARD:0022534,GARD:0019874,GARD:0006007,Rare abdominal surgical disease +GARD:0021862,GARD:0022531,GARD:0020064,GARD:0007652,Rare genetic disease +GARD:0021863,GARD:0021079,GARD:0021081,GARD:0018835,Rare systemic or rheumatological disease of childhood +GARD:0021863,GARD:0022527,GARD:0018844,GARD:0018835,Rare circulatory system disease +GARD:0021863,GARD:0022527,GARD:0018844,GARD:0020697,Rare circulatory system disease +GARD:0021863,GARD:0022525,GARD:0018844,GARD:0020697,Rare systemic or rheumatologic disease +GARD:0021863,GARD:0022525,GARD:0018844,GARD:0018835,Rare systemic or rheumatologic disease +GARD:0021863,GARD:0021079,GARD:0021081,GARD:0020697,Rare systemic or rheumatological disease of childhood +GARD:0021864,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0021864,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021864,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0021865,GARD:0022523,GARD:0020321,,Rare immune disease +GARD:0021865,GARD:0022531,GARD:0020321,,Rare genetic disease +GARD:0021866,GARD:0022531,GARD:0021430,,Rare genetic disease +GARD:0021866,GARD:0022524,GARD:0021430,,Rare neurologic disease +GARD:0021867,GARD:0022506,GARD:0021868,,Rare hepatic disease +GARD:0021867,GARD:0022525,GARD:0022391,,Rare systemic or rheumatologic disease +GARD:0021867,GARD:0022536,GARD:0021868,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021868,GARD:0022536,GARD:0022060,GARD:0021983,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021868,GARD:0022536,GARD:0022060,GARD:0021869,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021868,GARD:0022506,GARD:0019791,GARD:0021983,Rare hepatic disease +GARD:0021868,GARD:0022536,GARD:0022060,GARD:0021867,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021868,GARD:0022506,GARD:0019791,GARD:0021867,Rare hepatic disease +GARD:0021868,GARD:0022536,GARD:0022060,GARD:0010583,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021868,GARD:0022506,GARD:0019791,GARD:0010583,Rare hepatic disease +GARD:0021868,GARD:0022536,GARD:0022060,GARD:0001280,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021868,GARD:0022506,GARD:0019791,GARD:0021869,Rare hepatic disease +GARD:0021868,GARD:0022506,GARD:0019791,GARD:0001280,Rare hepatic disease +GARD:0021869,GARD:0022536,GARD:0021868,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021869,GARD:0022506,GARD:0021868,,Rare hepatic disease +GARD:0021870,GARD:0022526,GARD:0021370,,Rare odontologic disease +GARD:0021870,GARD:0022535,GARD:0021370,,Rare neoplastic disease +GARD:0021871,GARD:0022524,GARD:0018911,,Rare neurologic disease +GARD:0021871,GARD:0022520,GARD:0022116,,Rare ophthalmic disorder +GARD:0021872,GARD:0022531,GARD:0021873,,Rare genetic disease +GARD:0021873,GARD:0022531,GARD:0022531,GARD:0000654,Rare genetic disease +GARD:0021873,GARD:0022531,GARD:0022531,GARD:0017040,Rare genetic disease +GARD:0021873,GARD:0022531,GARD:0022531,GARD:0018647,Rare genetic disease +GARD:0021873,GARD:0022531,GARD:0022531,GARD:0020751,Rare genetic disease +GARD:0021873,GARD:0022531,GARD:0022531,GARD:0006001,Rare genetic disease +GARD:0021873,GARD:0022531,GARD:0022531,GARD:0021872,Rare genetic disease +GARD:0021874,GARD:0022524,GARD:0020359,,Rare neurologic disease +GARD:0021875,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021875,GARD:0022531,GARD:0021876,,Rare genetic disease +GARD:0021875,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021875,GARD:0022513,GARD:0021876,,Rare developmental defect during embryogenesis +GARD:0021875,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021876,GARD:0022531,GARD:0020857,GARD:0021875,Rare genetic disease +GARD:0021876,GARD:0022513,GARD:0020857,GARD:0021875,Rare developmental defect during embryogenesis +GARD:0021877,GARD:0022513,GARD:0019094,,Rare developmental defect during embryogenesis +GARD:0021877,GARD:0022519,GARD:0019094,,Rare surgical cardiac disease +GARD:0021878,GARD:0022531,GARD:0022140,GARD:0003791,Rare genetic disease +GARD:0021878,GARD:0022531,GARD:0022140,GARD:0001903,Rare genetic disease +GARD:0021878,GARD:0022531,GARD:0022140,GARD:0017684,Rare genetic disease +GARD:0021878,GARD:0022531,GARD:0022140,GARD:0007581,Rare genetic disease +GARD:0021878,GARD:0022531,GARD:0022140,GARD:0016610,Rare genetic disease +GARD:0021879,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0021880,GARD:0022509,GARD:0020047,,Rare infectious disease +GARD:0021881,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0021882,GARD:0022536,GARD:0022291,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021882,GARD:0022512,GARD:0022291,,Rare renal disease +GARD:0021882,GARD:0022525,GARD:0022391,,Rare systemic or rheumatologic disease +GARD:0021883,GARD:0022525,GARD:0022391,,Rare systemic or rheumatologic disease +GARD:0021883,GARD:0022534,GARD:0022534,,Rare abdominal surgical disease +GARD:0021884,GARD:0022528,GARD:0022528,,Rare otorhinolaryngologic disease +GARD:0021884,GARD:0022525,GARD:0022391,,Rare systemic or rheumatologic disease +GARD:0021885,GARD:0022525,GARD:0022391,,Rare systemic or rheumatologic disease +GARD:0021885,GARD:0022520,GARD:0022110,,Rare ophthalmic disorder +GARD:0021886,GARD:0022528,GARD:0022528,,Rare otorhinolaryngologic disease +GARD:0021886,GARD:0022525,GARD:0012521,,Rare systemic or rheumatologic disease +GARD:0021887,GARD:0022522,GARD:0022522,,Rare hematologic disease +GARD:0021888,GARD:0022525,GARD:0012521,,Rare systemic or rheumatologic disease +GARD:0021888,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0021889,GARD:0022525,GARD:0012521,,Rare systemic or rheumatologic disease +GARD:0021889,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0021890,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0021890,GARD:0022524,GARD:0019929,,Rare neurologic disease +GARD:0021890,GARD:0022531,GARD:0019929,,Rare genetic disease +GARD:0021890,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0021891,GARD:0022524,GARD:0019477,,Rare neurologic disease +GARD:0021891,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0021892,GARD:0022510,GARD:0019028,,Rare skin disease +GARD:0021893,GARD:0022535,GARD:0009362,,Rare neoplastic disease +GARD:0021893,GARD:0022514,GARD:0009362,,Rare gynecologic or obstetric disease +GARD:0021894,GARD:0022524,GARD:0021267,,Rare neurologic disease +GARD:0021894,GARD:0022524,GARD:0022327,,Rare neurologic disease +GARD:0021895,GARD:0022518,GARD:0019867,,Rare surgical thoracic disease +GARD:0021895,GARD:0022513,GARD:0019867,,Rare developmental defect during embryogenesis +GARD:0021895,GARD:0022534,GARD:0019855,,Rare abdominal surgical disease +GARD:0021895,GARD:0022517,GARD:0020249,,Rare respiratory disease +GARD:0021895,GARD:0022513,GARD:0019855,,Rare developmental defect during embryogenesis +GARD:0021896,GARD:0022533,GARD:0022139,,Rare disorder due to toxic effects +GARD:0021897,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0021897,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0021898,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021898,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0021898,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0021898,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0021898,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0021898,GARD:0022531,GARD:0020806,,Rare genetic disease +GARD:0021898,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021898,GARD:0022513,GARD:0020806,,Rare developmental defect during embryogenesis +GARD:0021898,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021899,GARD:0022531,GARD:0021793,,Rare genetic disease +GARD:0021899,GARD:0022516,GARD:0021793,,Rare gastroenterologic disease +GARD:0021899,GARD:0022535,GARD:0021793,,Rare neoplastic disease +GARD:0021900,GARD:0022513,GARD:0010758,GARD:0010682,Rare developmental defect during embryogenesis +GARD:0021900,GARD:0022512,GARD:0010758,GARD:0010682,Rare renal disease +GARD:0021900,GARD:0022512,GARD:0010758,GARD:0010680,Rare renal disease +GARD:0021900,GARD:0022521,GARD:0010758,GARD:0010682,Rare endocrine disease +GARD:0021900,GARD:0022531,GARD:0010758,GARD:0010680,Rare genetic disease +GARD:0021900,GARD:0022513,GARD:0010758,GARD:0010680,Rare developmental defect during embryogenesis +GARD:0021900,GARD:0022521,GARD:0010758,GARD:0010680,Rare endocrine disease +GARD:0021900,GARD:0022531,GARD:0010758,GARD:0010682,Rare genetic disease +GARD:0021901,GARD:0022531,GARD:0005898,GARD:0008334,Rare genetic disease +GARD:0021901,GARD:0022524,GARD:0005898,GARD:0008334,Rare neurologic disease +GARD:0021901,GARD:0022524,GARD:0005898,GARD:0012821,Rare neurologic disease +GARD:0021901,GARD:0022524,GARD:0005898,GARD:0012823,Rare neurologic disease +GARD:0021901,GARD:0022524,GARD:0005898,GARD:0012822,Rare neurologic disease +GARD:0021901,GARD:0022531,GARD:0005898,GARD:0012821,Rare genetic disease +GARD:0021901,GARD:0022531,GARD:0005898,GARD:0012822,Rare genetic disease +GARD:0021901,GARD:0022531,GARD:0005898,GARD:0012823,Rare genetic disease +GARD:0021902,GARD:0022522,GARD:0020675,,Rare hematologic disease +GARD:0021902,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0021903,GARD:0022536,GARD:0019861,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021903,GARD:0022513,GARD:0019861,,Rare developmental defect during embryogenesis +GARD:0021903,GARD:0022534,GARD:0019861,,Rare abdominal surgical disease +GARD:0021904,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0021904,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0021904,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021904,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021904,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0021904,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0021904,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0021904,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021904,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0021905,GARD:0022535,GARD:0019233,,Rare neoplastic disease +GARD:0021905,GARD:0022512,GARD:0019233,,Rare renal disease +GARD:0021905,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021905,GARD:0022531,GARD:0020307,,Rare genetic disease +GARD:0021906,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021906,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0021906,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021906,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0021906,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021907,GARD:0022535,GARD:0020458,,Rare neoplastic disease +GARD:0021907,GARD:0022513,GARD:0020458,,Rare developmental defect during embryogenesis +GARD:0021907,GARD:0022527,GARD:0020458,,Rare circulatory system disease +GARD:0021908,GARD:0022513,GARD:0020458,,Rare developmental defect during embryogenesis +GARD:0021908,GARD:0022527,GARD:0020458,,Rare circulatory system disease +GARD:0021908,GARD:0022535,GARD:0020458,,Rare neoplastic disease +GARD:0021909,GARD:0022535,GARD:0020458,,Rare neoplastic disease +GARD:0021909,GARD:0022527,GARD:0020458,,Rare circulatory system disease +GARD:0021909,GARD:0022513,GARD:0020458,,Rare developmental defect during embryogenesis +GARD:0021910,GARD:0022535,GARD:0020458,GARD:0019958,Rare neoplastic disease +GARD:0021910,GARD:0022513,GARD:0020458,GARD:0021911,Rare developmental defect during embryogenesis +GARD:0021910,GARD:0022527,GARD:0020458,GARD:0019958,Rare circulatory system disease +GARD:0021910,GARD:0022513,GARD:0020458,GARD:0019958,Rare developmental defect during embryogenesis +GARD:0021910,GARD:0022513,GARD:0020458,GARD:0010890,Rare developmental defect during embryogenesis +GARD:0021910,GARD:0022527,GARD:0020458,GARD:0010890,Rare circulatory system disease +GARD:0021910,GARD:0022535,GARD:0020458,GARD:0010890,Rare neoplastic disease +GARD:0021910,GARD:0022535,GARD:0020458,GARD:0021911,Rare neoplastic disease +GARD:0021910,GARD:0022527,GARD:0020458,GARD:0021911,Rare circulatory system disease +GARD:0021911,GARD:0022527,GARD:0021910,,Rare circulatory system disease +GARD:0021911,GARD:0022513,GARD:0021910,,Rare developmental defect during embryogenesis +GARD:0021911,GARD:0022535,GARD:0021910,,Rare neoplastic disease +GARD:0021912,GARD:0022513,GARD:0021915,,Rare developmental defect during embryogenesis +GARD:0021912,GARD:0022527,GARD:0021915,,Rare circulatory system disease +GARD:0021913,GARD:0022535,GARD:0020458,GARD:0019045,Rare neoplastic disease +GARD:0021913,GARD:0022535,GARD:0020458,GARD:0008338,Rare neoplastic disease +GARD:0021913,GARD:0022513,GARD:0020458,GARD:0008338,Rare developmental defect during embryogenesis +GARD:0021913,GARD:0022527,GARD:0020458,GARD:0019045,Rare circulatory system disease +GARD:0021913,GARD:0022527,GARD:0020458,GARD:0021488,Rare circulatory system disease +GARD:0021913,GARD:0022527,GARD:0020458,GARD:0008338,Rare circulatory system disease +GARD:0021913,GARD:0022513,GARD:0020458,GARD:0019045,Rare developmental defect during embryogenesis +GARD:0021913,GARD:0022513,GARD:0020458,GARD:0021488,Rare developmental defect during embryogenesis +GARD:0021913,GARD:0022535,GARD:0020458,GARD:0021488,Rare neoplastic disease +GARD:0021914,GARD:0022531,GARD:0021921,GARD:0017354,Rare genetic disease +GARD:0021914,GARD:0022531,GARD:0021921,GARD:0007706,Rare genetic disease +GARD:0021914,GARD:0022527,GARD:0020461,GARD:0007706,Rare circulatory system disease +GARD:0021914,GARD:0022527,GARD:0020461,GARD:0004014,Rare circulatory system disease +GARD:0021914,GARD:0022513,GARD:0020461,GARD:0004014,Rare developmental defect during embryogenesis +GARD:0021914,GARD:0022531,GARD:0021921,GARD:0004014,Rare genetic disease +GARD:0021914,GARD:0022527,GARD:0020461,GARD:0006950,Rare circulatory system disease +GARD:0021914,GARD:0022531,GARD:0021921,GARD:0021051,Rare genetic disease +GARD:0021914,GARD:0022513,GARD:0020461,GARD:0006950,Rare developmental defect during embryogenesis +GARD:0021914,GARD:0022531,GARD:0021921,GARD:0006950,Rare genetic disease +GARD:0021914,GARD:0022527,GARD:0020461,GARD:0021051,Rare circulatory system disease +GARD:0021914,GARD:0022513,GARD:0020461,GARD:0007706,Rare developmental defect during embryogenesis +GARD:0021914,GARD:0022527,GARD:0020461,GARD:0017354,Rare circulatory system disease +GARD:0021914,GARD:0022513,GARD:0020461,GARD:0017354,Rare developmental defect during embryogenesis +GARD:0021914,GARD:0022513,GARD:0020461,GARD:0021051,Rare developmental defect during embryogenesis +GARD:0021915,GARD:0022513,GARD:0009789,GARD:0013020,Rare developmental defect during embryogenesis +GARD:0021915,GARD:0022513,GARD:0009789,GARD:0006010,Rare developmental defect during embryogenesis +GARD:0021915,GARD:0022527,GARD:0009789,GARD:0021912,Rare circulatory system disease +GARD:0021915,GARD:0022527,GARD:0009789,GARD:0013020,Rare circulatory system disease +GARD:0021915,GARD:0022513,GARD:0009789,GARD:0021912,Rare developmental defect during embryogenesis +GARD:0021915,GARD:0022527,GARD:0009789,GARD:0006010,Rare circulatory system disease +GARD:0021916,GARD:0022527,GARD:0018894,,Rare circulatory system disease +GARD:0021916,GARD:0022513,GARD:0018894,,Rare developmental defect during embryogenesis +GARD:0021917,GARD:0022527,GARD:0018894,GARD:0019556,Rare circulatory system disease +GARD:0021917,GARD:0022513,GARD:0018894,GARD:0022003,Rare developmental defect during embryogenesis +GARD:0021917,GARD:0022513,GARD:0018894,GARD:0019556,Rare developmental defect during embryogenesis +GARD:0021917,GARD:0022527,GARD:0018894,GARD:0021541,Rare circulatory system disease +GARD:0021917,GARD:0022513,GARD:0018894,GARD:0021541,Rare developmental defect during embryogenesis +GARD:0021917,GARD:0022513,GARD:0018894,GARD:0003012,Rare developmental defect during embryogenesis +GARD:0021917,GARD:0022527,GARD:0018894,GARD:0003012,Rare circulatory system disease +GARD:0021917,GARD:0022527,GARD:0018894,GARD:0022003,Rare circulatory system disease +GARD:0021918,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0021918,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021918,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021918,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0021918,GARD:0022531,GARD:0021010,,Rare genetic disease +GARD:0021918,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021919,GARD:0022531,GARD:0019811,GARD:0017050,Rare genetic disease +GARD:0021919,GARD:0022531,GARD:0019811,GARD:0017513,Rare genetic disease +GARD:0021919,GARD:0022523,GARD:0019811,GARD:0017050,Rare immune disease +GARD:0021919,GARD:0022531,GARD:0019811,GARD:0015025,Rare genetic disease +GARD:0021919,GARD:0022523,GARD:0019811,GARD:0015025,Rare immune disease +GARD:0021919,GARD:0022523,GARD:0019811,GARD:0017513,Rare immune disease +GARD:0021919,GARD:0022531,GARD:0019811,GARD:0016489,Rare genetic disease +GARD:0021919,GARD:0022531,GARD:0019811,GARD:0017512,Rare genetic disease +GARD:0021919,GARD:0022523,GARD:0019811,GARD:0017512,Rare immune disease +GARD:0021919,GARD:0022523,GARD:0019811,GARD:0016489,Rare immune disease +GARD:0021920,GARD:0022523,GARD:0019811,GARD:0017054,Rare immune disease +GARD:0021920,GARD:0022523,GARD:0019811,GARD:0017098,Rare immune disease +GARD:0021920,GARD:0022523,GARD:0019811,GARD:0004513,Rare immune disease +GARD:0021920,GARD:0022523,GARD:0019811,GARD:0017099,Rare immune disease +GARD:0021920,GARD:0022531,GARD:0019811,GARD:0004513,Rare genetic disease +GARD:0021920,GARD:0022531,GARD:0019811,GARD:0017054,Rare genetic disease +GARD:0021920,GARD:0022531,GARD:0019811,GARD:0017098,Rare genetic disease +GARD:0021920,GARD:0022531,GARD:0019811,GARD:0017099,Rare genetic disease +GARD:0021920,GARD:0022531,GARD:0019811,GARD:0017055,Rare genetic disease +GARD:0021920,GARD:0022523,GARD:0019811,GARD:0017055,Rare immune disease +GARD:0021921,GARD:0022531,GARD:0020459,GARD:0006626,Rare genetic disease +GARD:0021921,GARD:0022531,GARD:0020459,GARD:0003986,Rare genetic disease +GARD:0021921,GARD:0022531,GARD:0020459,GARD:0021914,Rare genetic disease +GARD:0021922,GARD:0022531,GARD:0020459,GARD:0006958,Rare genetic disease +GARD:0021922,GARD:0022531,GARD:0020459,GARD:0007475,Rare genetic disease +GARD:0021922,GARD:0022531,GARD:0020459,GARD:0010939,Rare genetic disease +GARD:0021922,GARD:0022531,GARD:0020459,GARD:0019881,Rare genetic disease +GARD:0021922,GARD:0022531,GARD:0020459,GARD:0005887,Rare genetic disease +GARD:0021922,GARD:0022531,GARD:0020459,GARD:0003122,Rare genetic disease +GARD:0021923,GARD:0022531,GARD:0020459,GARD:0000425,Rare genetic disease +GARD:0021923,GARD:0022531,GARD:0020459,GARD:0020014,Rare genetic disease +GARD:0021923,GARD:0022531,GARD:0020459,GARD:0000676,Rare genetic disease +GARD:0021923,GARD:0022531,GARD:0020459,GARD:0018908,Rare genetic disease +GARD:0021923,GARD:0022531,GARD:0020459,GARD:0008338,Rare genetic disease +GARD:0021924,GARD:0022531,GARD:0020459,GARD:0016728,Rare genetic disease +GARD:0021924,GARD:0022531,GARD:0020459,GARD:0016600,Rare genetic disease +GARD:0021924,GARD:0022531,GARD:0020459,GARD:0005940,Rare genetic disease +GARD:0021924,GARD:0022531,GARD:0020459,GARD:0013641,Rare genetic disease +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0018034,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0022193,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0022332,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0002074,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0017094,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0017110,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0005295,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0002462,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0003650,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0022279,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0003788,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0003834,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0017922,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0000177,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0021978,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0018654,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0002229,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0004436,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0001876,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0005158,Rare developmental defect during embryogenesis +GARD:0021925,GARD:0022513,GARD:0018876,GARD:0003436,Rare developmental defect during embryogenesis +GARD:0021926,GARD:0022513,GARD:0013527,,Rare developmental defect during embryogenesis +GARD:0021926,GARD:0022531,GARD:0013527,,Rare genetic disease +GARD:0021926,GARD:0022524,GARD:0013527,,Rare neurologic disease +GARD:0021927,GARD:0022527,GARD:0020458,,Rare circulatory system disease +GARD:0021927,GARD:0022535,GARD:0020458,,Rare neoplastic disease +GARD:0021927,GARD:0022513,GARD:0020458,,Rare developmental defect during embryogenesis +GARD:0021928,GARD:0022512,GARD:0019233,,Rare renal disease +GARD:0021928,GARD:0022535,GARD:0019233,,Rare neoplastic disease +GARD:0021929,GARD:0022523,GARD:0020167,,Rare immune disease +GARD:0021930,GARD:0022522,GARD:0018883,,Rare hematologic disease +GARD:0021930,GARD:0022536,GARD:0018883,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021931,GARD:0022533,GARD:0021258,,Rare disorder due to toxic effects +GARD:0021932,GARD:0022535,GARD:0018857,,Rare neoplastic disease +GARD:0021932,GARD:0022516,GARD:0018857,,Rare gastroenterologic disease +GARD:0021933,GARD:0022524,GARD:0019474,GARD:0020353,Rare neurologic disease +GARD:0021933,GARD:0022524,GARD:0019474,GARD:0007122,Rare neurologic disease +GARD:0021933,GARD:0022524,GARD:0019474,GARD:0006851,Rare neurologic disease +GARD:0021934,GARD:0022531,GARD:0020318,GARD:0017297,Rare genetic disease +GARD:0021934,GARD:0022531,GARD:0020318,GARD:0019103,Rare genetic disease +GARD:0021934,GARD:0022531,GARD:0020318,GARD:0021022,Rare genetic disease +GARD:0021934,GARD:0022531,GARD:0020318,GARD:0002641,Rare genetic disease +GARD:0021934,GARD:0022531,GARD:0020318,GARD:0013007,Rare genetic disease +GARD:0021934,GARD:0022531,GARD:0020318,GARD:0021023,Rare genetic disease +GARD:0021934,GARD:0022531,GARD:0020318,GARD:0002640,Rare genetic disease +GARD:0021934,GARD:0022531,GARD:0020318,GARD:0021024,Rare genetic disease +GARD:0021934,GARD:0022531,GARD:0020318,GARD:0002659,Rare genetic disease +GARD:0021935,GARD:0022531,GARD:0022531,GARD:0002254,Rare genetic disease +GARD:0021935,GARD:0022531,GARD:0022531,GARD:0019346,Rare genetic disease +GARD:0021935,GARD:0022531,GARD:0022531,GARD:0021809,Rare genetic disease +GARD:0021935,GARD:0022531,GARD:0022531,GARD:0009486,Rare genetic disease +GARD:0021936,GARD:0022524,GARD:0021937,,Rare neurologic disease +GARD:0021937,GARD:0022524,GARD:0022524,GARD:0021936,Rare neurologic disease +GARD:0021937,GARD:0022524,GARD:0022524,GARD:0016536,Rare neurologic disease +GARD:0021937,GARD:0022524,GARD:0022524,GARD:0003361,Rare neurologic disease +GARD:0021937,GARD:0022524,GARD:0022524,GARD:0008432,Rare neurologic disease +GARD:0021937,GARD:0022524,GARD:0022524,GARD:0007195,Rare neurologic disease +GARD:0021937,GARD:0022524,GARD:0022524,GARD:0008433,Rare neurologic disease +GARD:0021937,GARD:0022524,GARD:0022524,GARD:0018828,Rare neurologic disease +GARD:0021937,GARD:0022524,GARD:0022524,GARD:0006964,Rare neurologic disease +GARD:0021938,GARD:0022533,GARD:0021258,,Rare disorder due to toxic effects +GARD:0021939,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0021940,GARD:0022520,GARD:0022082,,Rare ophthalmic disorder +GARD:0021940,GARD:0022513,GARD:0022082,,Rare developmental defect during embryogenesis +GARD:0021941,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0021941,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0021942,GARD:0022524,GARD:0020360,,Rare neurologic disease +GARD:0021942,GARD:0022531,GARD:0020360,,Rare genetic disease +GARD:0021943,GARD:0022535,GARD:0019404,,Rare neoplastic disease +GARD:0021943,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0021943,GARD:0022517,GARD:0019404,,Rare respiratory disease +GARD:0021944,GARD:0022524,GARD:0020339,,Rare neurologic disease +GARD:0021944,GARD:0022531,GARD:0021010,,Rare genetic disease +GARD:0021944,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0021944,GARD:0022513,GARD:0020339,,Rare developmental defect during embryogenesis +GARD:0021944,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0021944,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0021945,GARD:0022531,GARD:0020060,,Rare genetic disease +GARD:0021945,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0021945,GARD:0022536,GARD:0022062,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021946,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0021946,GARD:0022531,GARD:0020060,,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0021978,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0003436,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0017094,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0005158,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0004436,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0005295,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0022193,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0022332,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0002074,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0002229,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0003788,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0018654,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0000177,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0017922,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0003650,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0017110,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0002462,Rare genetic disease +GARD:0021947,GARD:0022531,GARD:0020291,GARD:0003834,Rare genetic disease +GARD:0021948,GARD:0022513,GARD:0019094,GARD:0019646,Rare developmental defect during embryogenesis +GARD:0021948,GARD:0022513,GARD:0019094,GARD:0016895,Rare developmental defect during embryogenesis +GARD:0021948,GARD:0022519,GARD:0019094,GARD:0019646,Rare surgical cardiac disease +GARD:0021948,GARD:0022519,GARD:0019094,GARD:0016895,Rare surgical cardiac disease +GARD:0021949,GARD:0022531,GARD:0010529,,Rare genetic disease +GARD:0021949,GARD:0022524,GARD:0010529,,Rare neurologic disease +GARD:0021949,GARD:0022524,GARD:0019926,,Rare neurologic disease +GARD:0021949,GARD:0022531,GARD:0019926,,Rare genetic disease +GARD:0021950,GARD:0022526,GARD:0019388,,Rare odontologic disease +GARD:0021950,GARD:0022536,GARD:0020529,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021950,GARD:0022510,GARD:0018986,,Rare skin disease +GARD:0021950,GARD:0022531,GARD:0020262,,Rare genetic disease +GARD:0021950,GARD:0022531,GARD:0018936,,Rare genetic disease +GARD:0021950,GARD:0022515,GARD:0020529,,Rare cardiac disease +GARD:0021950,GARD:0022531,GARD:0020529,,Rare genetic disease +GARD:0021951,GARD:0022524,GARD:0006034,GARD:0012449,Rare neurologic disease +GARD:0021951,GARD:0022531,GARD:0006034,GARD:0019924,Rare genetic disease +GARD:0021951,GARD:0022531,GARD:0006034,GARD:0012449,Rare genetic disease +GARD:0021951,GARD:0022524,GARD:0006034,GARD:0019924,Rare neurologic disease +GARD:0021952,GARD:0022531,GARD:0006034,GARD:0019925,Rare genetic disease +GARD:0021952,GARD:0022524,GARD:0006034,GARD:0019925,Rare neurologic disease +GARD:0021952,GARD:0022531,GARD:0006034,GARD:0019923,Rare genetic disease +GARD:0021952,GARD:0022524,GARD:0006034,GARD:0019923,Rare neurologic disease +GARD:0021953,GARD:0022510,GARD:0018996,,Rare skin disease +GARD:0021953,GARD:0022531,GARD:0018996,,Rare genetic disease +GARD:0021953,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0021953,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0021953,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0021954,GARD:0022524,GARD:0006034,GARD:0012452,Rare neurologic disease +GARD:0021954,GARD:0022531,GARD:0006034,GARD:0012436,Rare genetic disease +GARD:0021954,GARD:0022531,GARD:0006034,GARD:0012452,Rare genetic disease +GARD:0021954,GARD:0022524,GARD:0006034,GARD:0012436,Rare neurologic disease +GARD:0021955,GARD:0022531,GARD:0010529,GARD:0017296,Rare genetic disease +GARD:0021955,GARD:0022531,GARD:0010529,GARD:0021956,Rare genetic disease +GARD:0021955,GARD:0022524,GARD:0010529,GARD:0021956,Rare neurologic disease +GARD:0021955,GARD:0022524,GARD:0010529,GARD:0017296,Rare neurologic disease +GARD:0021956,GARD:0022531,GARD:0021123,,Rare genetic disease +GARD:0021956,GARD:0022531,GARD:0021955,,Rare genetic disease +GARD:0021956,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0021956,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0021956,GARD:0022524,GARD:0021955,,Rare neurologic disease +GARD:0021957,GARD:0022525,GARD:0019234,GARD:0001217,Rare systemic or rheumatologic disease +GARD:0021957,GARD:0022531,GARD:0021018,GARD:0001217,Rare genetic disease +GARD:0021957,GARD:0022531,GARD:0021018,GARD:0000575,Rare genetic disease +GARD:0021957,GARD:0022531,GARD:0021018,GARD:0022463,Rare genetic disease +GARD:0021957,GARD:0022525,GARD:0019234,GARD:0012383,Rare systemic or rheumatologic disease +GARD:0021957,GARD:0022531,GARD:0021018,GARD:0012357,Rare genetic disease +GARD:0021957,GARD:0022525,GARD:0019234,GARD:0004978,Rare systemic or rheumatologic disease +GARD:0021957,GARD:0022531,GARD:0021018,GARD:0017458,Rare genetic disease +GARD:0021957,GARD:0022525,GARD:0019234,GARD:0013824,Rare systemic or rheumatologic disease +GARD:0021957,GARD:0022525,GARD:0019234,GARD:0017368,Rare systemic or rheumatologic disease +GARD:0021957,GARD:0022531,GARD:0021018,GARD:0013824,Rare genetic disease +GARD:0021957,GARD:0022525,GARD:0019234,GARD:0016756,Rare systemic or rheumatologic disease +GARD:0021957,GARD:0022531,GARD:0021018,GARD:0000122,Rare genetic disease +GARD:0021957,GARD:0022531,GARD:0021018,GARD:0016756,Rare genetic disease +GARD:0021957,GARD:0022525,GARD:0019234,GARD:0017875,Rare systemic or rheumatologic disease +GARD:0021957,GARD:0022525,GARD:0019234,GARD:0017874,Rare systemic or rheumatologic disease +GARD:0021957,GARD:0022525,GARD:0019234,GARD:0022463,Rare systemic or rheumatologic disease +GARD:0021957,GARD:0022531,GARD:0021018,GARD:0017368,Rare genetic disease +GARD:0021957,GARD:0022531,GARD:0021018,GARD:0017875,Rare genetic disease +GARD:0021957,GARD:0022525,GARD:0019234,GARD:0012357,Rare systemic or rheumatologic disease +GARD:0021957,GARD:0022525,GARD:0019234,GARD:0000575,Rare systemic or rheumatologic disease +GARD:0021957,GARD:0022531,GARD:0021018,GARD:0004978,Rare genetic disease +GARD:0021957,GARD:0022525,GARD:0019234,GARD:0000122,Rare systemic or rheumatologic disease +GARD:0021957,GARD:0022531,GARD:0021018,GARD:0012383,Rare genetic disease +GARD:0021957,GARD:0022531,GARD:0021018,GARD:0005258,Rare genetic disease +GARD:0021957,GARD:0022531,GARD:0021018,GARD:0017874,Rare genetic disease +GARD:0021957,GARD:0022525,GARD:0019234,GARD:0005258,Rare systemic or rheumatologic disease +GARD:0021957,GARD:0022525,GARD:0019234,GARD:0017458,Rare systemic or rheumatologic disease +GARD:0021958,GARD:0022525,GARD:0020257,,Rare systemic or rheumatologic disease +GARD:0021959,GARD:0022510,GARD:0019011,,Rare skin disease +GARD:0021959,GARD:0022535,GARD:0018907,,Rare neoplastic disease +GARD:0021960,GARD:0022531,GARD:0020281,GARD:0022320,Rare genetic disease +GARD:0021960,GARD:0022524,GARD:0018911,GARD:0021988,Rare neurologic disease +GARD:0021960,GARD:0022524,GARD:0018911,GARD:0022320,Rare neurologic disease +GARD:0021960,GARD:0022531,GARD:0020281,GARD:0022487,Rare genetic disease +GARD:0021960,GARD:0022531,GARD:0020281,GARD:0021961,Rare genetic disease +GARD:0021960,GARD:0022531,GARD:0020281,GARD:0001217,Rare genetic disease +GARD:0021960,GARD:0022524,GARD:0018911,GARD:0010732,Rare neurologic disease +GARD:0021960,GARD:0022524,GARD:0018911,GARD:0010266,Rare neurologic disease +GARD:0021960,GARD:0022524,GARD:0018911,GARD:0021378,Rare neurologic disease +GARD:0021960,GARD:0022524,GARD:0018911,GARD:0001217,Rare neurologic disease +GARD:0021960,GARD:0022524,GARD:0018911,GARD:0001049,Rare neurologic disease +GARD:0021960,GARD:0022531,GARD:0020281,GARD:0010732,Rare genetic disease +GARD:0021960,GARD:0022531,GARD:0020281,GARD:0010266,Rare genetic disease +GARD:0021960,GARD:0022524,GARD:0018911,GARD:0021961,Rare neurologic disease +GARD:0021960,GARD:0022524,GARD:0018911,GARD:0017412,Rare neurologic disease +GARD:0021960,GARD:0022531,GARD:0020281,GARD:0021378,Rare genetic disease +GARD:0021960,GARD:0022531,GARD:0020281,GARD:0017412,Rare genetic disease +GARD:0021960,GARD:0022524,GARD:0018911,GARD:0022487,Rare neurologic disease +GARD:0021960,GARD:0022531,GARD:0020281,GARD:0001049,Rare genetic disease +GARD:0021960,GARD:0022531,GARD:0020281,GARD:0021988,Rare genetic disease +GARD:0021961,GARD:0022524,GARD:0021960,GARD:0021963,Rare neurologic disease +GARD:0021961,GARD:0022531,GARD:0021960,GARD:0021963,Rare genetic disease +GARD:0021961,GARD:0022531,GARD:0021960,GARD:0021962,Rare genetic disease +GARD:0021961,GARD:0022524,GARD:0021960,GARD:0021962,Rare neurologic disease +GARD:0021962,GARD:0022524,GARD:0021961,GARD:0017855,Rare neurologic disease +GARD:0021962,GARD:0022531,GARD:0021961,GARD:0017855,Rare genetic disease +GARD:0021963,GARD:0022524,GARD:0021961,GARD:0016693,Rare neurologic disease +GARD:0021963,GARD:0022531,GARD:0021961,GARD:0016693,Rare genetic disease +GARD:0021963,GARD:0022524,GARD:0021961,GARD:0012264,Rare neurologic disease +GARD:0021963,GARD:0022531,GARD:0021961,GARD:0012264,Rare genetic disease +GARD:0021963,GARD:0022524,GARD:0021961,GARD:0010889,Rare neurologic disease +GARD:0021963,GARD:0022531,GARD:0021961,GARD:0017876,Rare genetic disease +GARD:0021963,GARD:0022531,GARD:0021961,GARD:0010889,Rare genetic disease +GARD:0021963,GARD:0022524,GARD:0021961,GARD:0002258,Rare neurologic disease +GARD:0021963,GARD:0022524,GARD:0021961,GARD:0017876,Rare neurologic disease +GARD:0021963,GARD:0022531,GARD:0021961,GARD:0002258,Rare genetic disease +GARD:0021964,GARD:0022524,GARD:0018911,GARD:0021965,Rare neurologic disease +GARD:0021964,GARD:0022524,GARD:0018911,GARD:0007064,Rare neurologic disease +GARD:0021965,GARD:0022524,GARD:0021964,GARD:0000575,Rare neurologic disease +GARD:0021965,GARD:0022531,GARD:0020281,GARD:0017664,Rare genetic disease +GARD:0021965,GARD:0022531,GARD:0020281,GARD:0007866,Rare genetic disease +GARD:0021965,GARD:0022531,GARD:0020281,GARD:0017874,Rare genetic disease +GARD:0021965,GARD:0022531,GARD:0020281,GARD:0008614,Rare genetic disease +GARD:0021965,GARD:0022524,GARD:0021964,GARD:0008338,Rare neurologic disease +GARD:0021965,GARD:0022531,GARD:0020281,GARD:0001550,Rare genetic disease +GARD:0021965,GARD:0022531,GARD:0020281,GARD:0017301,Rare genetic disease +GARD:0021965,GARD:0022524,GARD:0021964,GARD:0017577,Rare neurologic disease +GARD:0021965,GARD:0022524,GARD:0021964,GARD:0017664,Rare neurologic disease +GARD:0021965,GARD:0022524,GARD:0021964,GARD:0010955,Rare neurologic disease +GARD:0021965,GARD:0022531,GARD:0020281,GARD:0010247,Rare genetic disease +GARD:0021965,GARD:0022524,GARD:0021964,GARD:0017874,Rare neurologic disease +GARD:0021965,GARD:0022531,GARD:0020281,GARD:0007831,Rare genetic disease +GARD:0021965,GARD:0022524,GARD:0021964,GARD:0009844,Rare neurologic disease +GARD:0021965,GARD:0022531,GARD:0020281,GARD:0000575,Rare genetic disease +GARD:0021965,GARD:0022531,GARD:0020281,GARD:0009844,Rare genetic disease +GARD:0021965,GARD:0022524,GARD:0021964,GARD:0007866,Rare neurologic disease +GARD:0021965,GARD:0022524,GARD:0021964,GARD:0007831,Rare neurologic disease +GARD:0021965,GARD:0022531,GARD:0020281,GARD:0010955,Rare genetic disease +GARD:0021965,GARD:0022524,GARD:0021964,GARD:0017301,Rare neurologic disease +GARD:0021965,GARD:0022531,GARD:0020281,GARD:0017577,Rare genetic disease +GARD:0021965,GARD:0022524,GARD:0021964,GARD:0001550,Rare neurologic disease +GARD:0021965,GARD:0022531,GARD:0020281,GARD:0008338,Rare genetic disease +GARD:0021965,GARD:0022524,GARD:0021964,GARD:0008614,Rare neurologic disease +GARD:0021965,GARD:0022524,GARD:0021964,GARD:0010247,Rare neurologic disease +GARD:0021966,GARD:0022507,GARD:0020451,,Rare maxillo-facial surgical disease +GARD:0021967,GARD:0022522,GARD:0021019,GARD:0009493,Rare hematologic disease +GARD:0021967,GARD:0022522,GARD:0021019,GARD:0005034,Rare hematologic disease +GARD:0021967,GARD:0022522,GARD:0021019,GARD:0020779,Rare hematologic disease +GARD:0021967,GARD:0022531,GARD:0021019,GARD:0017870,Rare genetic disease +GARD:0021967,GARD:0022531,GARD:0021019,GARD:0005034,Rare genetic disease +GARD:0021967,GARD:0022531,GARD:0021019,GARD:0017904,Rare genetic disease +GARD:0021967,GARD:0022531,GARD:0021019,GARD:0005188,Rare genetic disease +GARD:0021967,GARD:0022522,GARD:0021019,GARD:0017870,Rare hematologic disease +GARD:0021967,GARD:0022531,GARD:0021019,GARD:0009493,Rare genetic disease +GARD:0021967,GARD:0022522,GARD:0021019,GARD:0005188,Rare hematologic disease +GARD:0021967,GARD:0022531,GARD:0021019,GARD:0020538,Rare genetic disease +GARD:0021967,GARD:0022531,GARD:0021019,GARD:0019470,Rare genetic disease +GARD:0021967,GARD:0022522,GARD:0021019,GARD:0016687,Rare hematologic disease +GARD:0021967,GARD:0022531,GARD:0021019,GARD:0005116,Rare genetic disease +GARD:0021967,GARD:0022522,GARD:0021019,GARD:0005116,Rare hematologic disease +GARD:0021967,GARD:0022522,GARD:0021019,GARD:0000180,Rare hematologic disease +GARD:0021967,GARD:0022531,GARD:0021019,GARD:0000180,Rare genetic disease +GARD:0021967,GARD:0022522,GARD:0021019,GARD:0017884,Rare hematologic disease +GARD:0021967,GARD:0022522,GARD:0021019,GARD:0000307,Rare hematologic disease +GARD:0021967,GARD:0022531,GARD:0021019,GARD:0020779,Rare genetic disease +GARD:0021967,GARD:0022522,GARD:0021019,GARD:0020538,Rare hematologic disease +GARD:0021967,GARD:0022522,GARD:0021019,GARD:0019470,Rare hematologic disease +GARD:0021967,GARD:0022531,GARD:0021019,GARD:0000307,Rare genetic disease +GARD:0021967,GARD:0022531,GARD:0021019,GARD:0016687,Rare genetic disease +GARD:0021967,GARD:0022531,GARD:0021019,GARD:0017884,Rare genetic disease +GARD:0021967,GARD:0022522,GARD:0021019,GARD:0017904,Rare hematologic disease +GARD:0021968,GARD:0022531,GARD:0021019,GARD:0017132,Rare genetic disease +GARD:0021968,GARD:0022531,GARD:0021019,GARD:0010352,Rare genetic disease +GARD:0021968,GARD:0022522,GARD:0021019,GARD:0022274,Rare hematologic disease +GARD:0021968,GARD:0022531,GARD:0021019,GARD:0017835,Rare genetic disease +GARD:0021968,GARD:0022522,GARD:0021019,GARD:0017132,Rare hematologic disease +GARD:0021968,GARD:0022531,GARD:0021019,GARD:0020539,Rare genetic disease +GARD:0021968,GARD:0022522,GARD:0021019,GARD:0020674,Rare hematologic disease +GARD:0021968,GARD:0022522,GARD:0021019,GARD:0017835,Rare hematologic disease +GARD:0021968,GARD:0022522,GARD:0021019,GARD:0020539,Rare hematologic disease +GARD:0021968,GARD:0022522,GARD:0021019,GARD:0017267,Rare hematologic disease +GARD:0021968,GARD:0022522,GARD:0021019,GARD:0000640,Rare hematologic disease +GARD:0021968,GARD:0022531,GARD:0021019,GARD:0022274,Rare genetic disease +GARD:0021968,GARD:0022531,GARD:0021019,GARD:0017267,Rare genetic disease +GARD:0021968,GARD:0022522,GARD:0021019,GARD:0010352,Rare hematologic disease +GARD:0021968,GARD:0022531,GARD:0021019,GARD:0000640,Rare genetic disease +GARD:0021968,GARD:0022531,GARD:0021019,GARD:0020674,Rare genetic disease +GARD:0021969,GARD:0022531,GARD:0019399,GARD:0001096,Rare genetic disease +GARD:0021969,GARD:0022531,GARD:0019399,GARD:0016627,Rare genetic disease +GARD:0021969,GARD:0022531,GARD:0019399,GARD:0018735,Rare genetic disease +GARD:0021969,GARD:0022531,GARD:0019399,GARD:0006313,Rare genetic disease +GARD:0021969,GARD:0022531,GARD:0019399,GARD:0010985,Rare genetic disease +GARD:0021970,GARD:0022531,GARD:0020272,GARD:0000304,Rare genetic disease +GARD:0021970,GARD:0022531,GARD:0020272,GARD:0007299,Rare genetic disease +GARD:0021970,GARD:0022531,GARD:0020272,GARD:0000332,Rare genetic disease +GARD:0021970,GARD:0022531,GARD:0020272,GARD:0016583,Rare genetic disease +GARD:0021970,GARD:0022531,GARD:0020272,GARD:0019932,Rare genetic disease +GARD:0021970,GARD:0022531,GARD:0020272,GARD:0001815,Rare genetic disease +GARD:0021970,GARD:0022531,GARD:0020272,GARD:0017843,Rare genetic disease +GARD:0021970,GARD:0022531,GARD:0020272,GARD:0017533,Rare genetic disease +GARD:0021970,GARD:0022531,GARD:0020272,GARD:0021538,Rare genetic disease +GARD:0021970,GARD:0022531,GARD:0020272,GARD:0003268,Rare genetic disease +GARD:0021970,GARD:0022531,GARD:0020272,GARD:0007581,Rare genetic disease +GARD:0021970,GARD:0022531,GARD:0020272,GARD:0000109,Rare genetic disease +GARD:0021970,GARD:0022531,GARD:0020272,GARD:0004570,Rare genetic disease +GARD:0021970,GARD:0022531,GARD:0020272,GARD:0005770,Rare genetic disease +GARD:0021971,GARD:0022508,GARD:0020229,GARD:0017845,Rare inborn errors of metabolism +GARD:0021971,GARD:0022508,GARD:0020229,GARD:0017825,Rare inborn errors of metabolism +GARD:0021971,GARD:0022521,GARD:0020229,GARD:0017825,Rare endocrine disease +GARD:0021971,GARD:0022531,GARD:0020229,GARD:0010729,Rare genetic disease +GARD:0021971,GARD:0022508,GARD:0020229,GARD:0020441,Rare inborn errors of metabolism +GARD:0021971,GARD:0022521,GARD:0020229,GARD:0022456,Rare endocrine disease +GARD:0021971,GARD:0022531,GARD:0020229,GARD:0020441,Rare genetic disease +GARD:0021971,GARD:0022521,GARD:0020229,GARD:0017845,Rare endocrine disease +GARD:0021971,GARD:0022531,GARD:0020229,GARD:0017845,Rare genetic disease +GARD:0021971,GARD:0022508,GARD:0020229,GARD:0010729,Rare inborn errors of metabolism +GARD:0021971,GARD:0022531,GARD:0020229,GARD:0022456,Rare genetic disease +GARD:0021971,GARD:0022508,GARD:0020229,GARD:0022456,Rare inborn errors of metabolism +GARD:0021971,GARD:0022531,GARD:0020229,GARD:0017825,Rare genetic disease +GARD:0021971,GARD:0022521,GARD:0020229,GARD:0010416,Rare endocrine disease +GARD:0021971,GARD:0022531,GARD:0020229,GARD:0010416,Rare genetic disease +GARD:0021971,GARD:0022521,GARD:0020229,GARD:0020441,Rare endocrine disease +GARD:0021971,GARD:0022521,GARD:0020229,GARD:0010729,Rare endocrine disease +GARD:0021971,GARD:0022508,GARD:0020229,GARD:0010416,Rare inborn errors of metabolism +GARD:0021972,GARD:0022531,GARD:0015255,,Rare genetic disease +GARD:0021972,GARD:0022536,GARD:0015255,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021972,GARD:0022508,GARD:0015255,,Rare inborn errors of metabolism +GARD:0021972,GARD:0022506,GARD:0015255,,Rare hepatic disease +GARD:0021973,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0021973,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021974,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0021975,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0021975,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021976,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0021976,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021976,GARD:0022531,GARD:0020006,,Rare genetic disease +GARD:0021977,GARD:0022506,GARD:0019788,,Rare hepatic disease +GARD:0021978,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0021978,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0021978,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0021978,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0021978,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0021978,GARD:0022518,GARD:0020212,,Rare surgical thoracic disease +GARD:0021978,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0021978,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0021979,GARD:0022527,GARD:0018785,,Rare circulatory system disease +GARD:0021979,GARD:0022519,GARD:0018785,,Rare surgical cardiac disease +GARD:0021979,GARD:0022513,GARD:0018785,,Rare developmental defect during embryogenesis +GARD:0021979,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021979,GARD:0022506,GARD:0019788,,Rare hepatic disease +GARD:0021980,GARD:0022522,GARD:0021245,,Rare hematologic disease +GARD:0021980,GARD:0022536,GARD:0021245,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021980,GARD:0022535,GARD:0021245,,Rare neoplastic disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0017852,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0017710,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0022392,Rare immune disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0017647,Rare genetic disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0012375,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0017647,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0012653,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0017849,Rare immune disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0017084,Rare genetic disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0012375,Rare genetic disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0000387,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0017646,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0021864,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0008427,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0017852,Rare genetic disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0017939,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0017550,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0017550,Rare immune disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0017979,Rare genetic disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0010907,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0012375,Rare immune disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0017550,Rare genetic disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0022392,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0017045,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0000824,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0022392,Rare genetic disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0015000,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0017849,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0017646,Rare immune disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0017849,Rare genetic disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0000824,Rare immune disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0013339,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0017710,Rare genetic disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0004606,Rare immune disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0021864,Rare immune disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0013712,Rare genetic disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0017084,Rare immune disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0012653,Rare genetic disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0008427,Rare genetic disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0008198,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0008198,Rare immune disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0017939,Rare immune disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0013712,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0000387,Rare genetic disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0002816,Rare genetic disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0002816,Rare immune disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0017047,Rare genetic disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0017430,Rare immune disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0017979,Rare immune disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0013565,Rare genetic disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0013587,Rare genetic disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0017979,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0017047,Rare immune disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0017046,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0013339,Rare immune disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0017430,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0013712,Rare immune disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0000824,Rare genetic disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0004606,Rare genetic disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0008427,Rare immune disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0017710,Rare immune disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0017047,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0017430,Rare genetic disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0017852,Rare immune disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0017045,Rare immune disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0015000,Rare immune disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0021864,Rare genetic disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0017939,Rare genetic disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0017046,Rare immune disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0010907,Rare immune disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0004606,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0000387,Rare immune disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0008198,Rare genetic disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0010907,Rare genetic disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0017084,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0017647,Rare immune disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0013565,Rare immune disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0002816,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0013339,Rare genetic disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0012653,Rare immune disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0017646,Rare genetic disease +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0013565,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022536,GARD:0022063,GARD:0013587,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0017046,Rare genetic disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0017045,Rare genetic disease +GARD:0021981,GARD:0022523,GARD:0019806,GARD:0013587,Rare immune disease +GARD:0021981,GARD:0022531,GARD:0019806,GARD:0015000,Rare genetic disease +GARD:0021982,GARD:0022535,GARD:0018892,,Rare neoplastic disease +GARD:0021982,GARD:0022511,GARD:0018892,,Rare bone disease +GARD:0021983,GARD:0022506,GARD:0021868,,Rare hepatic disease +GARD:0021983,GARD:0022536,GARD:0021868,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021983,GARD:0022531,GARD:0020006,,Rare genetic disease +GARD:0021984,GARD:0022524,GARD:0020612,,Rare neurologic disease +GARD:0021985,GARD:0022521,GARD:0002437,GARD:0019750,Rare endocrine disease +GARD:0021985,GARD:0022521,GARD:0002437,GARD:0019757,Rare endocrine disease +GARD:0021985,GARD:0022535,GARD:0002437,GARD:0019756,Rare neoplastic disease +GARD:0021985,GARD:0022535,GARD:0002437,GARD:0022058,Rare neoplastic disease +GARD:0021985,GARD:0022535,GARD:0002437,GARD:0019755,Rare neoplastic disease +GARD:0021985,GARD:0022521,GARD:0002437,GARD:0019756,Rare endocrine disease +GARD:0021985,GARD:0022521,GARD:0002437,GARD:0021765,Rare endocrine disease +GARD:0021985,GARD:0022521,GARD:0002437,GARD:0019754,Rare endocrine disease +GARD:0021985,GARD:0022535,GARD:0002437,GARD:0019754,Rare neoplastic disease +GARD:0021985,GARD:0022535,GARD:0002437,GARD:0019750,Rare neoplastic disease +GARD:0021985,GARD:0022521,GARD:0002437,GARD:0022058,Rare endocrine disease +GARD:0021985,GARD:0022535,GARD:0002437,GARD:0021765,Rare neoplastic disease +GARD:0021985,GARD:0022535,GARD:0002437,GARD:0019757,Rare neoplastic disease +GARD:0021985,GARD:0022521,GARD:0002437,GARD:0019755,Rare endocrine disease +GARD:0021986,GARD:0021079,GARD:0021427,GARD:0013824,Rare systemic or rheumatological disease of childhood +GARD:0021986,GARD:0021079,GARD:0021427,GARD:0004978,Rare systemic or rheumatological disease of childhood +GARD:0021986,GARD:0021079,GARD:0021427,GARD:0022463,Rare systemic or rheumatological disease of childhood +GARD:0021986,GARD:0021079,GARD:0021427,GARD:0000122,Rare systemic or rheumatological disease of childhood +GARD:0021986,GARD:0021079,GARD:0021427,GARD:0017458,Rare systemic or rheumatological disease of childhood +GARD:0021986,GARD:0021079,GARD:0021427,GARD:0017368,Rare systemic or rheumatological disease of childhood +GARD:0021986,GARD:0021079,GARD:0021427,GARD:0017874,Rare systemic or rheumatological disease of childhood +GARD:0021986,GARD:0021079,GARD:0021427,GARD:0016756,Rare systemic or rheumatological disease of childhood +GARD:0021986,GARD:0021079,GARD:0021427,GARD:0012383,Rare systemic or rheumatological disease of childhood +GARD:0021986,GARD:0021079,GARD:0021427,GARD:0005258,Rare systemic or rheumatological disease of childhood +GARD:0021986,GARD:0021079,GARD:0021427,GARD:0012357,Rare systemic or rheumatological disease of childhood +GARD:0021986,GARD:0021079,GARD:0021427,GARD:0000575,Rare systemic or rheumatological disease of childhood +GARD:0021986,GARD:0021079,GARD:0021427,GARD:0017875,Rare systemic or rheumatological disease of childhood +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0012641,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0002952,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0016789,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0010116,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0010719,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0000614,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0016762,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0017776,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0021504,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0017124,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0000612,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0003287,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0017758,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0009170,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0016987,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0000607,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0003390,Rare genetic disease +GARD:0021987,GARD:0022531,GARD:0020266,GARD:0016553,Rare genetic disease +GARD:0021988,GARD:0022531,GARD:0021960,GARD:0010424,Rare genetic disease +GARD:0021988,GARD:0022531,GARD:0020028,GARD:0017877,Rare genetic disease +GARD:0021988,GARD:0022531,GARD:0021960,GARD:0017877,Rare genetic disease +GARD:0021988,GARD:0022524,GARD:0021960,GARD:0010424,Rare neurologic disease +GARD:0021988,GARD:0022524,GARD:0019096,GARD:0017877,Rare neurologic disease +GARD:0021988,GARD:0022531,GARD:0020028,GARD:0010424,Rare genetic disease +GARD:0021988,GARD:0022524,GARD:0019096,GARD:0010424,Rare neurologic disease +GARD:0021988,GARD:0022524,GARD:0021960,GARD:0017877,Rare neurologic disease +GARD:0021989,GARD:0022524,GARD:0018911,GARD:0021531,Rare neurologic disease +GARD:0021989,GARD:0022524,GARD:0018911,GARD:0021532,Rare neurologic disease +GARD:0021989,GARD:0022520,GARD:0022104,GARD:0021531,Rare ophthalmic disorder +GARD:0021989,GARD:0022520,GARD:0022104,GARD:0021532,Rare ophthalmic disorder +GARD:0021990,GARD:0022510,GARD:0018990,,Rare skin disease +GARD:0021990,GARD:0022531,GARD:0018991,,Rare genetic disease +GARD:0021990,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0021990,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0021991,GARD:0022528,GARD:0019899,,Rare otorhinolaryngologic disease +GARD:0021991,GARD:0022513,GARD:0019899,,Rare developmental defect during embryogenesis +GARD:0021991,GARD:0022507,GARD:0019899,,Rare maxillo-facial surgical disease +GARD:0021991,GARD:0022505,GARD:0020701,,Rare teratologic disease +GARD:0021991,GARD:0022533,GARD:0020701,,Rare disorder due to toxic effects +GARD:0021991,GARD:0022513,GARD:0020701,,Rare developmental defect during embryogenesis +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0005671,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0018008,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0005671,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0005862,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0002542,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0019345,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0017783,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0017783,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0017728,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0001469,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0017760,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0005862,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0007754,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0001465,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0007754,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0002542,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0018008,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0009904,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0001469,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0009904,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0013639,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0000365,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0000365,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0019345,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0005672,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0017728,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0007831,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0007831,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0013639,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0017760,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020341,GARD:0005672,Rare genetic disease +GARD:0021992,GARD:0022531,GARD:0020011,GARD:0001465,Rare genetic disease +GARD:0021993,GARD:0022513,GARD:0020869,,Rare developmental defect during embryogenesis +GARD:0021993,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0021993,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0021993,GARD:0022531,GARD:0020869,,Rare genetic disease +GARD:0021993,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0021994,GARD:0022531,GARD:0020383,,Rare genetic disease +GARD:0021994,GARD:0022524,GARD:0020383,,Rare neurologic disease +GARD:0021995,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0021995,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021996,GARD:0022506,GARD:0020048,GARD:0016713,Rare hepatic disease +GARD:0021996,GARD:0022536,GARD:0020048,GARD:0010045,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021996,GARD:0022508,GARD:0020048,GARD:0009813,Rare inborn errors of metabolism +GARD:0021996,GARD:0022506,GARD:0020048,GARD:0010046,Rare hepatic disease +GARD:0021996,GARD:0022536,GARD:0020048,GARD:0016713,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021996,GARD:0022531,GARD:0020048,GARD:0009813,Rare genetic disease +GARD:0021996,GARD:0022536,GARD:0020048,GARD:0009813,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021996,GARD:0022508,GARD:0020048,GARD:0010045,Rare inborn errors of metabolism +GARD:0021996,GARD:0022506,GARD:0020048,GARD:0009813,Rare hepatic disease +GARD:0021996,GARD:0022508,GARD:0020048,GARD:0010046,Rare inborn errors of metabolism +GARD:0021996,GARD:0022508,GARD:0020048,GARD:0016713,Rare inborn errors of metabolism +GARD:0021996,GARD:0022531,GARD:0020048,GARD:0016713,Rare genetic disease +GARD:0021996,GARD:0022506,GARD:0020048,GARD:0010045,Rare hepatic disease +GARD:0021996,GARD:0022536,GARD:0020048,GARD:0010046,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0021996,GARD:0022531,GARD:0020048,GARD:0010045,Rare genetic disease +GARD:0021996,GARD:0022531,GARD:0020048,GARD:0010046,Rare genetic disease +GARD:0021997,GARD:0021079,GARD:0021079,GARD:0021499,Rare systemic or rheumatological disease of childhood +GARD:0021997,GARD:0021079,GARD:0021079,GARD:0006760,Rare systemic or rheumatological disease of childhood +GARD:0021997,GARD:0021079,GARD:0021079,GARD:0018677,Rare systemic or rheumatological disease of childhood +GARD:0021997,GARD:0021079,GARD:0021079,GARD:0000508,Rare systemic or rheumatological disease of childhood +GARD:0021997,GARD:0021079,GARD:0021079,GARD:0021427,Rare systemic or rheumatological disease of childhood +GARD:0021997,GARD:0021079,GARD:0021079,GARD:0005693,Rare systemic or rheumatological disease of childhood +GARD:0021997,GARD:0021079,GARD:0021079,GARD:0006542,Rare systemic or rheumatological disease of childhood +GARD:0021998,GARD:0022516,GARD:0019786,,Rare gastroenterologic disease +GARD:0021999,GARD:0022531,GARD:0012431,,Rare genetic disease +GARD:0021999,GARD:0022524,GARD:0012431,,Rare neurologic disease +GARD:0022000,GARD:0022520,GARD:0022103,,Rare ophthalmic disorder +GARD:0022001,GARD:0022531,GARD:0002392,,Rare genetic disease +GARD:0022001,GARD:0022513,GARD:0002392,,Rare developmental defect during embryogenesis +GARD:0022001,GARD:0022511,GARD:0002392,,Rare bone disease +GARD:0022002,GARD:0022513,GARD:0019870,,Rare developmental defect during embryogenesis +GARD:0022003,GARD:0022513,GARD:0021917,,Rare developmental defect during embryogenesis +GARD:0022003,GARD:0022527,GARD:0021917,,Rare circulatory system disease +GARD:0022004,GARD:0022517,GARD:0013337,,Rare respiratory disease +GARD:0022004,GARD:0022536,GARD:0013337,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022005,GARD:0022514,GARD:0009349,,Rare gynecologic or obstetric disease +GARD:0022005,GARD:0022535,GARD:0009349,,Rare neoplastic disease +GARD:0022006,GARD:0022514,GARD:0009349,,Rare gynecologic or obstetric disease +GARD:0022006,GARD:0022535,GARD:0009349,,Rare neoplastic disease +GARD:0022007,GARD:0022514,GARD:0009349,,Rare gynecologic or obstetric disease +GARD:0022007,GARD:0022535,GARD:0009349,,Rare neoplastic disease +GARD:0022008,GARD:0022524,GARD:0019817,GARD:0018882,Rare neurologic disease +GARD:0022008,GARD:0022524,GARD:0019817,GARD:0021270,Rare neurologic disease +GARD:0022008,GARD:0022524,GARD:0019817,GARD:0021269,Rare neurologic disease +GARD:0022008,GARD:0022524,GARD:0019817,GARD:0022369,Rare neurologic disease +GARD:0022008,GARD:0022524,GARD:0019817,GARD:0017962,Rare neurologic disease +GARD:0022008,GARD:0022524,GARD:0019817,GARD:0021274,Rare neurologic disease +GARD:0022008,GARD:0022524,GARD:0019817,GARD:0021279,Rare neurologic disease +GARD:0022009,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022009,GARD:0022524,GARD:0020085,,Rare neurologic disease +GARD:0022009,GARD:0022513,GARD:0020829,,Rare developmental defect during embryogenesis +GARD:0022009,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022009,GARD:0022531,GARD:0019001,,Rare genetic disease +GARD:0022009,GARD:0022510,GARD:0019001,,Rare skin disease +GARD:0022009,GARD:0022531,GARD:0020085,,Rare genetic disease +GARD:0022009,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022009,GARD:0022531,GARD:0020829,,Rare genetic disease +GARD:0022010,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0022010,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0022010,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0022010,GARD:0022531,GARD:0019521,,Rare genetic disease +GARD:0022010,GARD:0022520,GARD:0019521,,Rare ophthalmic disorder +GARD:0022010,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022010,GARD:0022531,GARD:0021008,,Rare genetic disease +GARD:0022010,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022010,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022010,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0022010,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0022011,GARD:0022513,GARD:0020252,,Rare developmental defect during embryogenesis +GARD:0022011,GARD:0022536,GARD:0020252,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022011,GARD:0022532,GARD:0020252,,Rare urogenital disease +GARD:0022012,GARD:0022531,GARD:0019772,,Rare genetic disease +GARD:0022012,GARD:0022524,GARD:0019772,,Rare neurologic disease +GARD:0022013,GARD:0022531,GARD:0020287,GARD:0022369,Rare genetic disease +GARD:0022013,GARD:0022531,GARD:0020287,GARD:0021286,Rare genetic disease +GARD:0022013,GARD:0022531,GARD:0020287,GARD:0021630,Rare genetic disease +GARD:0022013,GARD:0022531,GARD:0020287,GARD:0021271,Rare genetic disease +GARD:0022013,GARD:0022531,GARD:0020287,GARD:0021287,Rare genetic disease +GARD:0022013,GARD:0022531,GARD:0020287,GARD:0021279,Rare genetic disease +GARD:0022013,GARD:0022531,GARD:0020287,GARD:0017962,Rare genetic disease +GARD:0022014,GARD:0022527,GARD:0018881,GARD:0012784,Rare circulatory system disease +GARD:0022014,GARD:0022527,GARD:0018881,GARD:0016577,Rare circulatory system disease +GARD:0022014,GARD:0022527,GARD:0018881,GARD:0021824,Rare circulatory system disease +GARD:0022014,GARD:0022527,GARD:0018881,GARD:0020628,Rare circulatory system disease +GARD:0022014,GARD:0022527,GARD:0018881,GARD:0005980,Rare circulatory system disease +GARD:0022014,GARD:0022527,GARD:0018881,GARD:0019113,Rare circulatory system disease +GARD:0022014,GARD:0022527,GARD:0018881,GARD:0010822,Rare circulatory system disease +GARD:0022014,GARD:0022527,GARD:0018881,GARD:0007713,Rare circulatory system disease +GARD:0022014,GARD:0022527,GARD:0018881,GARD:0007664,Rare circulatory system disease +GARD:0022015,GARD:0022524,GARD:0022440,GARD:0017234,Rare neurologic disease +GARD:0022015,GARD:0022520,GARD:0021845,GARD:0017474,Rare ophthalmic disorder +GARD:0022015,GARD:0022531,GARD:0022440,GARD:0017234,Rare genetic disease +GARD:0022015,GARD:0022508,GARD:0018814,GARD:0017474,Rare inborn errors of metabolism +GARD:0022015,GARD:0022531,GARD:0022440,GARD:0017474,Rare genetic disease +GARD:0022015,GARD:0022524,GARD:0018890,GARD:0017474,Rare neurologic disease +GARD:0022015,GARD:0022524,GARD:0018890,GARD:0017234,Rare neurologic disease +GARD:0022015,GARD:0022531,GARD:0018814,GARD:0017234,Rare genetic disease +GARD:0022015,GARD:0022531,GARD:0021845,GARD:0017234,Rare genetic disease +GARD:0022015,GARD:0022508,GARD:0018814,GARD:0017234,Rare inborn errors of metabolism +GARD:0022015,GARD:0022531,GARD:0018814,GARD:0017474,Rare genetic disease +GARD:0022015,GARD:0022531,GARD:0018890,GARD:0017474,Rare genetic disease +GARD:0022015,GARD:0022524,GARD:0022440,GARD:0017474,Rare neurologic disease +GARD:0022015,GARD:0022520,GARD:0021845,GARD:0017234,Rare ophthalmic disorder +GARD:0022015,GARD:0022531,GARD:0021845,GARD:0017474,Rare genetic disease +GARD:0022015,GARD:0022531,GARD:0018890,GARD:0017234,Rare genetic disease +GARD:0022016,GARD:0022531,GARD:0021107,,Rare genetic disease +GARD:0022016,GARD:0022510,GARD:0021107,,Rare skin disease +GARD:0022016,GARD:0022531,GARD:0022489,,Rare genetic disease +GARD:0022016,GARD:0022535,GARD:0021176,,Rare neoplastic disease +GARD:0022016,GARD:0022510,GARD:0021176,,Rare skin disease +GARD:0022017,GARD:0022514,GARD:0020200,,Rare gynecologic or obstetric disease +GARD:0022018,GARD:0022506,GARD:0019791,GARD:0012010,Rare hepatic disease +GARD:0022018,GARD:0022506,GARD:0019791,GARD:0022019,Rare hepatic disease +GARD:0022019,GARD:0022506,GARD:0022018,GARD:0020652,Rare hepatic disease +GARD:0022019,GARD:0022506,GARD:0022018,GARD:0005237,Rare hepatic disease +GARD:0022020,GARD:0022511,GARD:0021567,GARD:0010088,Rare bone disease +GARD:0022020,GARD:0022531,GARD:0021567,GARD:0010088,Rare genetic disease +GARD:0022020,GARD:0022531,GARD:0021567,GARD:0010877,Rare genetic disease +GARD:0022020,GARD:0022531,GARD:0021567,GARD:0001356,Rare genetic disease +GARD:0022020,GARD:0022531,GARD:0021567,GARD:0010516,Rare genetic disease +GARD:0022020,GARD:0022511,GARD:0021567,GARD:0022029,Rare bone disease +GARD:0022020,GARD:0022531,GARD:0021567,GARD:0009184,Rare genetic disease +GARD:0022020,GARD:0022513,GARD:0021567,GARD:0010877,Rare developmental defect during embryogenesis +GARD:0022020,GARD:0022513,GARD:0021567,GARD:0010088,Rare developmental defect during embryogenesis +GARD:0022020,GARD:0022513,GARD:0021567,GARD:0009184,Rare developmental defect during embryogenesis +GARD:0022020,GARD:0022513,GARD:0021567,GARD:0022029,Rare developmental defect during embryogenesis +GARD:0022020,GARD:0022511,GARD:0021567,GARD:0010877,Rare bone disease +GARD:0022020,GARD:0022511,GARD:0021567,GARD:0001356,Rare bone disease +GARD:0022020,GARD:0022511,GARD:0021567,GARD:0009184,Rare bone disease +GARD:0022020,GARD:0022513,GARD:0021567,GARD:0001356,Rare developmental defect during embryogenesis +GARD:0022020,GARD:0022531,GARD:0021567,GARD:0022029,Rare genetic disease +GARD:0022020,GARD:0022511,GARD:0021567,GARD:0010516,Rare bone disease +GARD:0022020,GARD:0022513,GARD:0021567,GARD:0010516,Rare developmental defect during embryogenesis +GARD:0022021,GARD:0022513,GARD:0021567,GARD:0007878,Rare developmental defect during embryogenesis +GARD:0022021,GARD:0022531,GARD:0021567,GARD:0016535,Rare genetic disease +GARD:0022021,GARD:0022511,GARD:0021567,GARD:0017860,Rare bone disease +GARD:0022021,GARD:0022513,GARD:0021567,GARD:0005899,Rare developmental defect during embryogenesis +GARD:0022021,GARD:0022511,GARD:0021567,GARD:0006985,Rare bone disease +GARD:0022021,GARD:0022511,GARD:0021567,GARD:0007475,Rare bone disease +GARD:0022021,GARD:0022511,GARD:0021567,GARD:0010939,Rare bone disease +GARD:0022021,GARD:0022513,GARD:0021567,GARD:0006985,Rare developmental defect during embryogenesis +GARD:0022021,GARD:0022531,GARD:0021567,GARD:0010091,Rare genetic disease +GARD:0022021,GARD:0022511,GARD:0021567,GARD:0007878,Rare bone disease +GARD:0022021,GARD:0022511,GARD:0021567,GARD:0010788,Rare bone disease +GARD:0022021,GARD:0022513,GARD:0021567,GARD:0022490,Rare developmental defect during embryogenesis +GARD:0022021,GARD:0022531,GARD:0021567,GARD:0006985,Rare genetic disease +GARD:0022021,GARD:0022531,GARD:0021567,GARD:0022490,Rare genetic disease +GARD:0022021,GARD:0022513,GARD:0021567,GARD:0013789,Rare developmental defect during embryogenesis +GARD:0022021,GARD:0022511,GARD:0021567,GARD:0013789,Rare bone disease +GARD:0022021,GARD:0022511,GARD:0021567,GARD:0022032,Rare bone disease +GARD:0022021,GARD:0022513,GARD:0021567,GARD:0016535,Rare developmental defect during embryogenesis +GARD:0022021,GARD:0022513,GARD:0021567,GARD:0022032,Rare developmental defect during embryogenesis +GARD:0022021,GARD:0022531,GARD:0021567,GARD:0010066,Rare genetic disease +GARD:0022021,GARD:0022513,GARD:0021567,GARD:0010066,Rare developmental defect during embryogenesis +GARD:0022021,GARD:0022531,GARD:0021567,GARD:0005899,Rare genetic disease +GARD:0022021,GARD:0022531,GARD:0021567,GARD:0010939,Rare genetic disease +GARD:0022021,GARD:0022531,GARD:0021567,GARD:0013789,Rare genetic disease +GARD:0022021,GARD:0022531,GARD:0021567,GARD:0007475,Rare genetic disease +GARD:0022021,GARD:0022531,GARD:0021567,GARD:0017495,Rare genetic disease +GARD:0022021,GARD:0022531,GARD:0021567,GARD:0007878,Rare genetic disease +GARD:0022021,GARD:0022511,GARD:0021567,GARD:0010091,Rare bone disease +GARD:0022021,GARD:0022531,GARD:0021567,GARD:0022032,Rare genetic disease +GARD:0022021,GARD:0022511,GARD:0021567,GARD:0010066,Rare bone disease +GARD:0022021,GARD:0022513,GARD:0021567,GARD:0017495,Rare developmental defect during embryogenesis +GARD:0022021,GARD:0022511,GARD:0021567,GARD:0017495,Rare bone disease +GARD:0022021,GARD:0022511,GARD:0021567,GARD:0005899,Rare bone disease +GARD:0022021,GARD:0022513,GARD:0021567,GARD:0010788,Rare developmental defect during embryogenesis +GARD:0022021,GARD:0022531,GARD:0021567,GARD:0010788,Rare genetic disease +GARD:0022021,GARD:0022511,GARD:0021567,GARD:0022490,Rare bone disease +GARD:0022021,GARD:0022513,GARD:0021567,GARD:0010939,Rare developmental defect during embryogenesis +GARD:0022021,GARD:0022513,GARD:0021567,GARD:0017860,Rare developmental defect during embryogenesis +GARD:0022021,GARD:0022531,GARD:0021567,GARD:0017860,Rare genetic disease +GARD:0022021,GARD:0022511,GARD:0021567,GARD:0016535,Rare bone disease +GARD:0022021,GARD:0022513,GARD:0021567,GARD:0010091,Rare developmental defect during embryogenesis +GARD:0022021,GARD:0022513,GARD:0021567,GARD:0007475,Rare developmental defect during embryogenesis +GARD:0022022,GARD:0022531,GARD:0018895,GARD:0000979,Rare genetic disease +GARD:0022022,GARD:0022531,GARD:0018895,GARD:0000983,Rare genetic disease +GARD:0022022,GARD:0022531,GARD:0018895,GARD:0001062,Rare genetic disease +GARD:0022022,GARD:0022513,GARD:0018895,GARD:0000985,Rare developmental defect during embryogenesis +GARD:0022022,GARD:0022513,GARD:0018895,GARD:0000987,Rare developmental defect during embryogenesis +GARD:0022022,GARD:0022513,GARD:0018895,GARD:0000983,Rare developmental defect during embryogenesis +GARD:0022022,GARD:0022511,GARD:0018895,GARD:0000979,Rare bone disease +GARD:0022022,GARD:0022513,GARD:0018895,GARD:0000978,Rare developmental defect during embryogenesis +GARD:0022022,GARD:0022513,GARD:0018895,GARD:0004886,Rare developmental defect during embryogenesis +GARD:0022022,GARD:0022531,GARD:0018895,GARD:0000984,Rare genetic disease +GARD:0022022,GARD:0022511,GARD:0018895,GARD:0001062,Rare bone disease +GARD:0022022,GARD:0022531,GARD:0018895,GARD:0000990,Rare genetic disease +GARD:0022022,GARD:0022511,GARD:0018895,GARD:0000978,Rare bone disease +GARD:0022022,GARD:0022511,GARD:0018895,GARD:0005058,Rare bone disease +GARD:0022022,GARD:0022531,GARD:0018895,GARD:0000985,Rare genetic disease +GARD:0022022,GARD:0022513,GARD:0018895,GARD:0005058,Rare developmental defect during embryogenesis +GARD:0022022,GARD:0022513,GARD:0018895,GARD:0004083,Rare developmental defect during embryogenesis +GARD:0022022,GARD:0022511,GARD:0018895,GARD:0016735,Rare bone disease +GARD:0022022,GARD:0022511,GARD:0018895,GARD:0000966,Rare bone disease +GARD:0022022,GARD:0022511,GARD:0018895,GARD:0000985,Rare bone disease +GARD:0022022,GARD:0022511,GARD:0018895,GARD:0000987,Rare bone disease +GARD:0022022,GARD:0022531,GARD:0018895,GARD:0000986,Rare genetic disease +GARD:0022022,GARD:0022531,GARD:0018895,GARD:0016735,Rare genetic disease +GARD:0022022,GARD:0022513,GARD:0018895,GARD:0000990,Rare developmental defect during embryogenesis +GARD:0022022,GARD:0022511,GARD:0018895,GARD:0000986,Rare bone disease +GARD:0022022,GARD:0022531,GARD:0018895,GARD:0000987,Rare genetic disease 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disease +GARD:0022023,GARD:0022513,GARD:0018895,GARD:0000972,Rare developmental defect during embryogenesis +GARD:0022023,GARD:0022513,GARD:0018895,GARD:0005490,Rare developmental defect during embryogenesis +GARD:0022023,GARD:0022513,GARD:0018895,GARD:0000968,Rare developmental defect during embryogenesis +GARD:0022023,GARD:0022531,GARD:0018895,GARD:0010202,Rare genetic disease +GARD:0022023,GARD:0022513,GARD:0018895,GARD:0008407,Rare developmental defect during embryogenesis +GARD:0022023,GARD:0022531,GARD:0018895,GARD:0016562,Rare genetic disease +GARD:0022023,GARD:0022531,GARD:0018895,GARD:0017188,Rare genetic disease +GARD:0022023,GARD:0022511,GARD:0018895,GARD:0000918,Rare bone disease +GARD:0022023,GARD:0022531,GARD:0018895,GARD:0008407,Rare genetic disease +GARD:0022023,GARD:0022531,GARD:0018895,GARD:0004375,Rare genetic disease +GARD:0022023,GARD:0022531,GARD:0018895,GARD:0017583,Rare genetic disease +GARD:0022023,GARD:0022511,GARD:0018895,GARD:0000491,Rare bone disease 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genetic disease +GARD:0022023,GARD:0022511,GARD:0018895,GARD:0008407,Rare bone disease +GARD:0022023,GARD:0022531,GARD:0018895,GARD:0005490,Rare genetic disease +GARD:0022023,GARD:0022511,GARD:0018895,GARD:0017583,Rare bone disease +GARD:0022023,GARD:0022513,GARD:0018895,GARD:0009679,Rare developmental defect during embryogenesis +GARD:0022023,GARD:0022531,GARD:0018895,GARD:0000968,Rare genetic disease +GARD:0022023,GARD:0022511,GARD:0018895,GARD:0007593,Rare bone disease +GARD:0022023,GARD:0022513,GARD:0018895,GARD:0004375,Rare developmental defect during embryogenesis +GARD:0022023,GARD:0022513,GARD:0018895,GARD:0016562,Rare developmental defect during embryogenesis +GARD:0022023,GARD:0022513,GARD:0018895,GARD:0010202,Rare developmental defect during embryogenesis +GARD:0022023,GARD:0022531,GARD:0018895,GARD:0006124,Rare genetic disease +GARD:0022023,GARD:0022511,GARD:0018895,GARD:0005490,Rare bone disease +GARD:0022023,GARD:0022531,GARD:0018895,GARD:0005739,Rare genetic disease 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+GARD:0022023,GARD:0022511,GARD:0018895,GARD:0017188,Rare bone disease +GARD:0022023,GARD:0022513,GARD:0018895,GARD:0006124,Rare developmental defect during embryogenesis +GARD:0022023,GARD:0022513,GARD:0018895,GARD:0000918,Rare developmental defect during embryogenesis +GARD:0022024,GARD:0022511,GARD:0019210,GARD:0018761,Rare bone disease +GARD:0022024,GARD:0022511,GARD:0019210,GARD:0021198,Rare bone disease +GARD:0022024,GARD:0022531,GARD:0019210,GARD:0021198,Rare genetic disease +GARD:0022024,GARD:0022513,GARD:0019210,GARD:0018761,Rare developmental defect during embryogenesis +GARD:0022024,GARD:0022513,GARD:0019210,GARD:0021198,Rare developmental defect during embryogenesis +GARD:0022024,GARD:0022531,GARD:0019210,GARD:0018761,Rare genetic disease +GARD:0022025,GARD:0022511,GARD:0019210,GARD:0000376,Rare bone disease +GARD:0022025,GARD:0022511,GARD:0019210,GARD:0000429,Rare bone disease +GARD:0022025,GARD:0022513,GARD:0019210,GARD:0022033,Rare developmental defect during embryogenesis +GARD:0022025,GARD:0022511,GARD:0019210,GARD:0021179,Rare bone disease +GARD:0022025,GARD:0022513,GARD:0019210,GARD:0021196,Rare developmental defect during embryogenesis +GARD:0022025,GARD:0022511,GARD:0019210,GARD:0022033,Rare bone disease +GARD:0022025,GARD:0022513,GARD:0019210,GARD:0021197,Rare developmental defect during embryogenesis +GARD:0022025,GARD:0022531,GARD:0019210,GARD:0000376,Rare genetic disease +GARD:0022025,GARD:0022511,GARD:0019210,GARD:0021196,Rare bone disease +GARD:0022025,GARD:0022531,GARD:0019210,GARD:0021179,Rare genetic disease +GARD:0022025,GARD:0022513,GARD:0019210,GARD:0000429,Rare developmental defect during embryogenesis +GARD:0022025,GARD:0022531,GARD:0019210,GARD:0021196,Rare genetic disease +GARD:0022025,GARD:0022531,GARD:0019210,GARD:0000377,Rare genetic disease +GARD:0022025,GARD:0022511,GARD:0019210,GARD:0021197,Rare bone disease +GARD:0022025,GARD:0022511,GARD:0019210,GARD:0000377,Rare bone disease +GARD:0022025,GARD:0022513,GARD:0019210,GARD:0021179,Rare developmental defect during embryogenesis +GARD:0022025,GARD:0022513,GARD:0019210,GARD:0000377,Rare developmental defect during embryogenesis +GARD:0022025,GARD:0022531,GARD:0019210,GARD:0021197,Rare genetic disease +GARD:0022025,GARD:0022531,GARD:0019210,GARD:0022033,Rare genetic disease +GARD:0022025,GARD:0022531,GARD:0019210,GARD:0000429,Rare genetic disease +GARD:0022025,GARD:0022513,GARD:0019210,GARD:0000376,Rare developmental defect during embryogenesis +GARD:0022026,GARD:0022511,GARD:0004410,GARD:0004417,Rare bone disease +GARD:0022026,GARD:0022511,GARD:0004410,GARD:0009903,Rare bone disease +GARD:0022026,GARD:0022511,GARD:0004410,GARD:0005289,Rare bone disease +GARD:0022026,GARD:0022531,GARD:0004410,GARD:0009903,Rare genetic disease +GARD:0022026,GARD:0022531,GARD:0004410,GARD:0002256,Rare genetic disease +GARD:0022026,GARD:0022513,GARD:0004410,GARD:0002256,Rare developmental defect during embryogenesis +GARD:0022026,GARD:0022513,GARD:0004410,GARD:0004417,Rare developmental defect during embryogenesis +GARD:0022026,GARD:0022513,GARD:0004410,GARD:0009903,Rare developmental defect during embryogenesis +GARD:0022026,GARD:0022513,GARD:0004410,GARD:0005289,Rare developmental defect during embryogenesis +GARD:0022026,GARD:0022511,GARD:0004410,GARD:0002256,Rare bone disease +GARD:0022026,GARD:0022531,GARD:0004410,GARD:0004417,Rare genetic disease +GARD:0022026,GARD:0022531,GARD:0004410,GARD:0005289,Rare genetic disease +GARD:0022027,GARD:0022513,GARD:0004410,GARD:0016817,Rare developmental defect during embryogenesis +GARD:0022027,GARD:0022511,GARD:0004410,GARD:0016817,Rare bone disease +GARD:0022027,GARD:0022531,GARD:0004410,GARD:0016818,Rare genetic disease +GARD:0022027,GARD:0022511,GARD:0004410,GARD:0016818,Rare bone disease +GARD:0022027,GARD:0022531,GARD:0004410,GARD:0016817,Rare genetic disease +GARD:0022027,GARD:0022513,GARD:0004410,GARD:0016818,Rare developmental defect during embryogenesis +GARD:0022028,GARD:0022513,GARD:0004410,GARD:0021200,Rare developmental defect during embryogenesis +GARD:0022028,GARD:0022511,GARD:0004410,GARD:0022034,Rare bone disease +GARD:0022028,GARD:0022511,GARD:0004410,GARD:0021200,Rare bone disease +GARD:0022028,GARD:0022531,GARD:0004410,GARD:0022034,Rare genetic disease +GARD:0022028,GARD:0022513,GARD:0004410,GARD:0022034,Rare developmental defect during embryogenesis +GARD:0022028,GARD:0022531,GARD:0004410,GARD:0021200,Rare genetic disease +GARD:0022029,GARD:0022511,GARD:0019204,GARD:0016583,Rare bone disease +GARD:0022029,GARD:0022531,GARD:0022020,GARD:0016583,Rare genetic disease +GARD:0022029,GARD:0022513,GARD:0019204,GARD:0006807,Rare developmental defect during embryogenesis +GARD:0022029,GARD:0022513,GARD:0022020,GARD:0016583,Rare developmental defect during embryogenesis +GARD:0022029,GARD:0022511,GARD:0019204,GARD:0006807,Rare bone disease +GARD:0022029,GARD:0022531,GARD:0019204,GARD:0006807,Rare genetic disease +GARD:0022029,GARD:0022511,GARD:0022020,GARD:0016583,Rare bone disease +GARD:0022029,GARD:0022513,GARD:0019204,GARD:0016583,Rare developmental defect during embryogenesis +GARD:0022029,GARD:0022513,GARD:0022020,GARD:0006807,Rare developmental defect during embryogenesis +GARD:0022029,GARD:0022531,GARD:0019204,GARD:0016583,Rare genetic disease +GARD:0022029,GARD:0022531,GARD:0022020,GARD:0006807,Rare genetic disease +GARD:0022029,GARD:0022511,GARD:0022020,GARD:0006807,Rare bone disease +GARD:0022030,GARD:0022531,GARD:0021726,GARD:0010051,Rare genetic disease +GARD:0022030,GARD:0022511,GARD:0021572,GARD:0006319,Rare bone disease +GARD:0022030,GARD:0022531,GARD:0021726,GARD:0006319,Rare genetic disease +GARD:0022030,GARD:0022511,GARD:0021572,GARD:0001369,Rare bone disease +GARD:0022030,GARD:0022513,GARD:0021572,GARD:0010051,Rare developmental defect during embryogenesis +GARD:0022030,GARD:0022511,GARD:0021572,GARD:0000384,Rare bone disease +GARD:0022030,GARD:0022513,GARD:0021572,GARD:0002725,Rare developmental defect during embryogenesis +GARD:0022030,GARD:0022513,GARD:0021572,GARD:0004323,Rare developmental defect during embryogenesis +GARD:0022030,GARD:0022531,GARD:0021726,GARD:0004323,Rare genetic disease +GARD:0022030,GARD:0022513,GARD:0021572,GARD:0006319,Rare developmental defect during embryogenesis +GARD:0022030,GARD:0022531,GARD:0021726,GARD:0001369,Rare genetic disease +GARD:0022030,GARD:0022513,GARD:0021572,GARD:0002068,Rare developmental defect during embryogenesis +GARD:0022030,GARD:0022513,GARD:0021572,GARD:0001261,Rare developmental defect during embryogenesis +GARD:0022030,GARD:0022511,GARD:0021572,GARD:0004260,Rare bone disease +GARD:0022030,GARD:0022531,GARD:0021726,GARD:0002076,Rare genetic disease +GARD:0022030,GARD:0022511,GARD:0021572,GARD:0002725,Rare bone disease +GARD:0022030,GARD:0022513,GARD:0021572,GARD:0002331,Rare developmental defect during embryogenesis +GARD:0022030,GARD:0022531,GARD:0021726,GARD:0002331,Rare genetic disease +GARD:0022030,GARD:0022513,GARD:0021572,GARD:0004260,Rare developmental defect during embryogenesis +GARD:0022030,GARD:0022513,GARD:0021572,GARD:0002076,Rare developmental defect during embryogenesis +GARD:0022030,GARD:0022513,GARD:0021572,GARD:0001369,Rare developmental defect during embryogenesis +GARD:0022030,GARD:0022511,GARD:0021572,GARD:0002285,Rare bone disease +GARD:0022030,GARD:0022511,GARD:0021572,GARD:0004323,Rare bone disease +GARD:0022030,GARD:0022531,GARD:0021726,GARD:0004260,Rare genetic disease +GARD:0022030,GARD:0022513,GARD:0021572,GARD:0002285,Rare developmental defect during embryogenesis +GARD:0022030,GARD:0022511,GARD:0021572,GARD:0002076,Rare bone disease +GARD:0022030,GARD:0022531,GARD:0021726,GARD:0001261,Rare genetic disease +GARD:0022030,GARD:0022531,GARD:0021726,GARD:0000384,Rare genetic disease +GARD:0022030,GARD:0022511,GARD:0021572,GARD:0002331,Rare bone disease +GARD:0022030,GARD:0022511,GARD:0021572,GARD:0002068,Rare bone disease +GARD:0022030,GARD:0022531,GARD:0021726,GARD:0002068,Rare genetic disease +GARD:0022030,GARD:0022531,GARD:0021726,GARD:0002725,Rare genetic disease +GARD:0022030,GARD:0022511,GARD:0021572,GARD:0002078,Rare bone disease +GARD:0022030,GARD:0022511,GARD:0021572,GARD:0010051,Rare bone disease +GARD:0022030,GARD:0022531,GARD:0021726,GARD:0002285,Rare genetic disease +GARD:0022030,GARD:0022531,GARD:0021726,GARD:0002078,Rare genetic disease +GARD:0022030,GARD:0022513,GARD:0021572,GARD:0000384,Rare developmental defect during embryogenesis +GARD:0022030,GARD:0022511,GARD:0021572,GARD:0001261,Rare bone disease +GARD:0022030,GARD:0022513,GARD:0021572,GARD:0002078,Rare developmental defect during embryogenesis +GARD:0022031,GARD:0022511,GARD:0019201,,Rare bone disease +GARD:0022031,GARD:0022513,GARD:0019201,,Rare developmental defect during embryogenesis +GARD:0022031,GARD:0022531,GARD:0019201,,Rare genetic disease +GARD:0022032,GARD:0022531,GARD:0020906,,Rare genetic disease +GARD:0022032,GARD:0022513,GARD:0020906,,Rare developmental defect during embryogenesis +GARD:0022032,GARD:0022513,GARD:0022021,,Rare developmental defect during embryogenesis +GARD:0022032,GARD:0022511,GARD:0022021,,Rare bone disease +GARD:0022032,GARD:0022531,GARD:0022021,,Rare genetic disease +GARD:0022033,GARD:0022511,GARD:0022025,GARD:0021195,Rare bone disease +GARD:0022033,GARD:0022511,GARD:0022025,GARD:0021194,Rare bone disease +GARD:0022033,GARD:0022531,GARD:0022025,GARD:0021194,Rare genetic disease +GARD:0022033,GARD:0022531,GARD:0022025,GARD:0021195,Rare genetic disease +GARD:0022033,GARD:0022513,GARD:0022025,GARD:0021195,Rare developmental defect during embryogenesis +GARD:0022033,GARD:0022513,GARD:0022025,GARD:0021194,Rare developmental defect during embryogenesis +GARD:0022034,GARD:0022531,GARD:0022028,,Rare genetic disease +GARD:0022034,GARD:0022511,GARD:0022028,,Rare bone disease +GARD:0022034,GARD:0022513,GARD:0022028,,Rare developmental defect during embryogenesis +GARD:0022035,GARD:0022531,GARD:0000777,,Rare genetic disease +GARD:0022035,GARD:0022513,GARD:0000777,,Rare developmental defect during embryogenesis +GARD:0022036,GARD:0022505,GARD:0020626,,Rare teratologic disease +GARD:0022036,GARD:0022509,GARD:0020626,,Rare infectious disease +GARD:0022036,GARD:0022513,GARD:0020626,,Rare developmental defect during embryogenesis +GARD:0022037,GARD:0022520,GARD:0022120,GARD:0022039,Rare ophthalmic disorder +GARD:0022037,GARD:0022520,GARD:0022120,GARD:0022041,Rare ophthalmic disorder +GARD:0022037,GARD:0022520,GARD:0022120,GARD:0022038,Rare ophthalmic disorder +GARD:0022037,GARD:0022520,GARD:0022120,GARD:0022040,Rare ophthalmic disorder +GARD:0022037,GARD:0022520,GARD:0022120,GARD:0008639,Rare ophthalmic disorder +GARD:0022037,GARD:0022520,GARD:0022120,GARD:0006267,Rare ophthalmic disorder +GARD:0022038,GARD:0022520,GARD:0022037,,Rare ophthalmic disorder +GARD:0022039,GARD:0022524,GARD:0020239,GARD:0022376,Rare neurologic disease +GARD:0022039,GARD:0022524,GARD:0020239,GARD:0022377,Rare neurologic disease +GARD:0022039,GARD:0022520,GARD:0022037,GARD:0022376,Rare ophthalmic disorder +GARD:0022039,GARD:0022520,GARD:0022037,GARD:0022377,Rare ophthalmic disorder +GARD:0022040,GARD:0022520,GARD:0022037,,Rare ophthalmic disorder +GARD:0022041,GARD:0022520,GARD:0022037,,Rare ophthalmic disorder +GARD:0022042,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0022042,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0022043,GARD:0022531,GARD:0022441,GARD:0012219,Rare genetic disease +GARD:0022043,GARD:0022524,GARD:0019832,GARD:0017925,Rare neurologic disease +GARD:0022043,GARD:0022513,GARD:0019832,GARD:0012219,Rare developmental defect during embryogenesis +GARD:0022043,GARD:0022531,GARD:0022441,GARD:0017925,Rare genetic disease +GARD:0022043,GARD:0022513,GARD:0019832,GARD:0017925,Rare developmental defect during embryogenesis +GARD:0022043,GARD:0022524,GARD:0019832,GARD:0012219,Rare neurologic disease +GARD:0022044,GARD:0022528,GARD:0020056,,Rare otorhinolaryngologic disease +GARD:0022044,GARD:0022513,GARD:0020056,,Rare developmental defect during embryogenesis +GARD:0022045,GARD:0022528,GARD:0020056,,Rare otorhinolaryngologic disease +GARD:0022045,GARD:0022513,GARD:0020056,,Rare developmental defect during embryogenesis +GARD:0022046,GARD:0022528,GARD:0019405,GARD:0017933,Rare otorhinolaryngologic disease +GARD:0022046,GARD:0022528,GARD:0019405,GARD:0017932,Rare otorhinolaryngologic disease +GARD:0022046,GARD:0022535,GARD:0019405,GARD:0017932,Rare neoplastic disease +GARD:0022046,GARD:0022535,GARD:0019405,GARD:0017933,Rare neoplastic disease +GARD:0022047,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022047,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022047,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0022047,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0022047,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0022047,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022048,GARD:0022513,GARD:0020824,,Rare developmental defect during embryogenesis +GARD:0022048,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022048,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022048,GARD:0022531,GARD:0020824,,Rare genetic disease +GARD:0022048,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022049,GARD:0022510,GARD:0021171,,Rare skin disease +GARD:0022050,GARD:0022531,GARD:0012966,,Rare genetic disease +GARD:0022050,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0022050,GARD:0022508,GARD:0012966,,Rare inborn errors of metabolism +GARD:0022050,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0022051,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0022052,GARD:0022521,GARD:0002437,GARD:0013034,Rare endocrine disease +GARD:0022052,GARD:0022535,GARD:0002437,GARD:0022056,Rare neoplastic disease +GARD:0022052,GARD:0022535,GARD:0021775,GARD:0013034,Rare neoplastic disease +GARD:0022052,GARD:0022535,GARD:0021775,GARD:0022057,Rare neoplastic disease +GARD:0022052,GARD:0022516,GARD:0021775,GARD:0013034,Rare gastroenterologic disease +GARD:0022052,GARD:0022521,GARD:0002437,GARD:0022056,Rare endocrine disease +GARD:0022052,GARD:0022516,GARD:0021775,GARD:0022057,Rare gastroenterologic disease +GARD:0022052,GARD:0022521,GARD:0002437,GARD:0022057,Rare endocrine disease +GARD:0022052,GARD:0022535,GARD:0002437,GARD:0022057,Rare neoplastic disease +GARD:0022052,GARD:0022535,GARD:0021775,GARD:0022056,Rare neoplastic disease +GARD:0022052,GARD:0022516,GARD:0021775,GARD:0022056,Rare gastroenterologic disease +GARD:0022052,GARD:0022535,GARD:0002437,GARD:0013034,Rare neoplastic disease +GARD:0022053,GARD:0022516,GARD:0013034,GARD:0003010,Rare gastroenterologic disease +GARD:0022053,GARD:0022535,GARD:0013034,GARD:0004900,Rare neoplastic disease +GARD:0022053,GARD:0022535,GARD:0013034,GARD:0003010,Rare neoplastic disease +GARD:0022053,GARD:0022521,GARD:0013034,GARD:0002496,Rare endocrine disease +GARD:0022053,GARD:0022535,GARD:0013034,GARD:0003787,Rare neoplastic disease +GARD:0022053,GARD:0022516,GARD:0013034,GARD:0002496,Rare gastroenterologic disease +GARD:0022053,GARD:0022521,GARD:0013034,GARD:0004900,Rare endocrine disease +GARD:0022053,GARD:0022516,GARD:0013034,GARD:0003787,Rare gastroenterologic disease +GARD:0022053,GARD:0022535,GARD:0013034,GARD:0019358,Rare neoplastic disease +GARD:0022053,GARD:0022521,GARD:0013034,GARD:0007918,Rare endocrine disease +GARD:0022053,GARD:0022521,GARD:0013034,GARD:0019356,Rare endocrine disease +GARD:0022053,GARD:0022535,GARD:0013034,GARD:0007918,Rare neoplastic disease +GARD:0022053,GARD:0022516,GARD:0013034,GARD:0022055,Rare gastroenterologic disease +GARD:0022053,GARD:0022521,GARD:0013034,GARD:0022055,Rare endocrine disease +GARD:0022053,GARD:0022521,GARD:0013034,GARD:0019358,Rare endocrine disease +GARD:0022053,GARD:0022516,GARD:0013034,GARD:0007918,Rare gastroenterologic disease +GARD:0022053,GARD:0022535,GARD:0013034,GARD:0019356,Rare neoplastic disease +GARD:0022053,GARD:0022535,GARD:0013034,GARD:0019698,Rare neoplastic disease +GARD:0022053,GARD:0022535,GARD:0013034,GARD:0022055,Rare neoplastic disease +GARD:0022053,GARD:0022516,GARD:0013034,GARD:0004900,Rare gastroenterologic disease +GARD:0022053,GARD:0022516,GARD:0013034,GARD:0019698,Rare gastroenterologic disease +GARD:0022053,GARD:0022521,GARD:0013034,GARD:0003010,Rare endocrine disease +GARD:0022053,GARD:0022516,GARD:0013034,GARD:0019356,Rare gastroenterologic disease +GARD:0022053,GARD:0022535,GARD:0013034,GARD:0002496,Rare neoplastic disease +GARD:0022053,GARD:0022516,GARD:0013034,GARD:0019358,Rare gastroenterologic disease +GARD:0022053,GARD:0022521,GARD:0013034,GARD:0019698,Rare endocrine disease +GARD:0022053,GARD:0022521,GARD:0013034,GARD:0003787,Rare endocrine disease +GARD:0022054,GARD:0022521,GARD:0013034,,Rare endocrine disease +GARD:0022054,GARD:0022516,GARD:0013034,,Rare gastroenterologic disease +GARD:0022054,GARD:0022535,GARD:0013034,,Rare neoplastic disease +GARD:0022055,GARD:0022521,GARD:0022053,,Rare endocrine disease +GARD:0022055,GARD:0022516,GARD:0022053,,Rare gastroenterologic disease +GARD:0022055,GARD:0022535,GARD:0022053,,Rare neoplastic disease +GARD:0022056,GARD:0022535,GARD:0022052,,Rare neoplastic disease +GARD:0022056,GARD:0022516,GARD:0022052,,Rare gastroenterologic disease +GARD:0022056,GARD:0022521,GARD:0022052,,Rare endocrine disease +GARD:0022057,GARD:0022521,GARD:0022052,,Rare endocrine disease +GARD:0022057,GARD:0022535,GARD:0022052,,Rare neoplastic disease +GARD:0022057,GARD:0022516,GARD:0022052,,Rare gastroenterologic disease +GARD:0022058,GARD:0022535,GARD:0021985,,Rare neoplastic disease +GARD:0022058,GARD:0022516,GARD:0020213,,Rare gastroenterologic disease +GARD:0022058,GARD:0022535,GARD:0020213,,Rare neoplastic disease +GARD:0022058,GARD:0022521,GARD:0021985,,Rare endocrine disease +GARD:0022059,GARD:0022536,GARD:0022536,GARD:0022065,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022059,GARD:0022536,GARD:0022536,GARD:0022060,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022059,GARD:0022536,GARD:0022536,GARD:0022062,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022059,GARD:0022536,GARD:0022536,GARD:0022063,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022059,GARD:0022536,GARD:0022536,GARD:0022064,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022059,GARD:0022536,GARD:0022536,GARD:0022061,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0017368,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0020540,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0018812,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0007172,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0006002,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0013004,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0007893,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0005871,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0016526,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0007459,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0002520,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0003343,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0005177,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0022457,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0012010,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0021868,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0021995,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0021257,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0021979,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0018676,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0006858,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0013639,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0020652,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0000804,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0019282,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0012124,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0006622,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0022250,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0005784,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0010929,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0009457,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0021975,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0006233,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0005968,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0021119,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0016523,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0021256,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0021976,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0002658,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022060,GARD:0022536,GARD:0022059,GARD:0021973,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0003295,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0009681,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0007891,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0009643,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0017374,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0007892,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0018777,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0017211,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0007381,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0019154,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0011003,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0019376,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0022233,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0006400,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0012623,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0013105,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0001614,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0019381,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0017034,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0000646,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0022486,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0017676,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0017564,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0016587,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0021471,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0010801,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0010413,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0007193,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0003049,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0009755,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0017685,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0002858,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0021475,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0005671,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0017186,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0001493,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0000433,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0002658,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0019218,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0016539,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0006237,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0020063,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0005787,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0010169,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0020630,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0000546,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0006866,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0004553,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0009455,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0007866,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0012736,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0004768,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0017569,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0005177,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0002943,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0008600,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0009659,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0007830,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0009496,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0002541,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0021469,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0000967,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0017757,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0022482,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0022483,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0017967,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0021254,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0019093,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0016772,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0016530,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0000206,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0003586,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0000359,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0006425,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0000322,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0000399,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0020634,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0010508,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0016659,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0022238,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0007917,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0005068,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0008378,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0016730,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0009481,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0013215,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0017356,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0021905,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0019217,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0004667,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0016585,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022061,GARD:0022536,GARD:0022059,GARD:0009118,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0019845,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0021945,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0020101,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0018918,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0019861,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0019351,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0019849,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0021361,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0012843,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0001502,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0019841,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0019848,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0019847,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0019384,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0021178,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022062,GARD:0022536,GARD:0022059,GARD:0019846,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0019809,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0013030,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0020131,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0020116,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0018883,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0012476,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0020633,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0017731,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0020130,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0020114,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0007065,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0017600,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0017483,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0009936,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0007672,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0004155,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0007628,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0021981,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0020025,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0007284,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0017732,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0007895,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0018797,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0017048,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0021513,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0020234,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0017139,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022063,GARD:0022536,GARD:0022059,GARD:0003013,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022064,GARD:0022536,GARD:0022059,GARD:0006233,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022064,GARD:0022536,GARD:0022059,GARD:0020244,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022064,GARD:0022536,GARD:0022059,GARD:0004598,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022064,GARD:0022536,GARD:0022059,GARD:0007501,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022064,GARD:0022536,GARD:0022059,GARD:0011904,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022064,GARD:0022536,GARD:0022059,GARD:0005961,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0000220,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0020518,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0018615,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0020528,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0002520,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0022267,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0020533,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0016692,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0006336,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0021452,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0020529,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0005847,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0016755,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0002905,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0021606,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0020527,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022065,GARD:0022536,GARD:0022059,GARD:0020526,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022066,GARD:0022510,GARD:0007743,,Rare skin disease +GARD:0022067,GARD:0022513,GARD:0019859,,Rare developmental defect during embryogenesis +GARD:0022067,GARD:0022534,GARD:0019859,,Rare abdominal surgical disease +GARD:0022067,GARD:0022531,GARD:0019859,,Rare genetic disease +GARD:0022067,GARD:0022536,GARD:0019859,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022068,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0022068,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0022068,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0022068,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0022068,GARD:0022528,GARD:0019908,,Rare otorhinolaryngologic disease +GARD:0022068,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0022068,GARD:0022507,GARD:0019908,,Rare maxillo-facial surgical disease +GARD:0022068,GARD:0022513,GARD:0019908,,Rare developmental defect during embryogenesis +GARD:0022068,GARD:0022531,GARD:0019908,,Rare genetic disease +GARD:0022068,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0022068,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0022068,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0022069,GARD:0022511,GARD:0010692,,Rare bone disease +GARD:0022069,GARD:0022531,GARD:0021544,,Rare genetic disease +GARD:0022069,GARD:0022507,GARD:0010692,,Rare maxillo-facial surgical disease +GARD:0022069,GARD:0022528,GARD:0010692,,Rare otorhinolaryngologic disease +GARD:0022069,GARD:0022531,GARD:0010692,,Rare genetic disease +GARD:0022069,GARD:0022513,GARD:0010692,,Rare developmental defect during embryogenesis +GARD:0022070,GARD:0022511,GARD:0019193,,Rare bone disease +GARD:0022070,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022070,GARD:0022531,GARD:0020115,,Rare genetic disease +GARD:0022070,GARD:0022513,GARD:0019193,,Rare developmental defect during embryogenesis +GARD:0022070,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022070,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022070,GARD:0022523,GARD:0020115,,Rare immune disease +GARD:0022070,GARD:0022531,GARD:0019193,,Rare genetic disease +GARD:0022071,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022071,GARD:0022536,GARD:0019069,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022071,GARD:0022531,GARD:0020115,,Rare genetic disease +GARD:0022071,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022071,GARD:0022523,GARD:0020115,,Rare immune disease +GARD:0022071,GARD:0022535,GARD:0019069,,Rare neoplastic disease +GARD:0022071,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022071,GARD:0022522,GARD:0019069,,Rare hematologic disease +GARD:0022071,GARD:0022511,GARD:0021186,,Rare bone disease +GARD:0022071,GARD:0022531,GARD:0021727,,Rare genetic disease +GARD:0022071,GARD:0022513,GARD:0021186,,Rare developmental defect during embryogenesis +GARD:0022072,GARD:0022536,GARD:0022073,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022072,GARD:0022535,GARD:0022073,,Rare neoplastic disease +GARD:0022072,GARD:0022522,GARD:0022073,,Rare hematologic disease +GARD:0022073,GARD:0022535,GARD:0020133,GARD:0010493,Rare neoplastic disease +GARD:0022073,GARD:0022536,GARD:0020133,GARD:0009812,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022073,GARD:0022536,GARD:0020133,GARD:0022072,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022073,GARD:0022522,GARD:0020133,GARD:0009812,Rare hematologic disease +GARD:0022073,GARD:0022522,GARD:0020133,GARD:0010493,Rare hematologic disease +GARD:0022073,GARD:0022535,GARD:0020133,GARD:0022072,Rare neoplastic disease +GARD:0022073,GARD:0022536,GARD:0020133,GARD:0010493,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022073,GARD:0022522,GARD:0020133,GARD:0022072,Rare hematologic disease +GARD:0022073,GARD:0022535,GARD:0020133,GARD:0009812,Rare neoplastic disease +GARD:0022074,GARD:0022510,GARD:0021107,,Rare skin disease +GARD:0022074,GARD:0022531,GARD:0021107,,Rare genetic disease +GARD:0022075,GARD:0022524,GARD:0019412,,Rare neurologic disease +GARD:0022075,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022075,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022075,GARD:0022531,GARD:0019412,,Rare genetic disease +GARD:0022076,GARD:0022531,GARD:0021616,,Rare genetic disease +GARD:0022076,GARD:0022513,GARD:0019856,,Rare developmental defect during embryogenesis +GARD:0022076,GARD:0022534,GARD:0019856,,Rare abdominal surgical disease +GARD:0022077,GARD:0022524,GARD:0021261,GARD:0017427,Rare neurologic disease +GARD:0022077,GARD:0022531,GARD:0021284,GARD:0017427,Rare genetic disease +GARD:0022077,GARD:0022524,GARD:0021261,GARD:0009174,Rare neurologic disease +GARD:0022077,GARD:0022531,GARD:0021284,GARD:0009174,Rare genetic disease +GARD:0022078,GARD:0022520,GARD:0019509,GARD:0007043,Rare ophthalmic disorder +GARD:0022079,GARD:0022520,GARD:0022135,GARD:0019495,Rare ophthalmic disorder +GARD:0022079,GARD:0022520,GARD:0022135,GARD:0019509,Rare ophthalmic disorder +GARD:0022079,GARD:0022520,GARD:0022135,GARD:0019508,Rare ophthalmic disorder +GARD:0022080,GARD:0022513,GARD:0019501,GARD:0019503,Rare developmental defect during embryogenesis +GARD:0022080,GARD:0022531,GARD:0022161,GARD:0019502,Rare genetic disease +GARD:0022080,GARD:0022513,GARD:0019501,GARD:0019502,Rare developmental defect during embryogenesis +GARD:0022080,GARD:0022520,GARD:0019501,GARD:0019502,Rare ophthalmic disorder +GARD:0022080,GARD:0022520,GARD:0019501,GARD:0019503,Rare ophthalmic disorder +GARD:0022080,GARD:0022531,GARD:0022161,GARD:0019503,Rare genetic disease +GARD:0022081,GARD:0022520,GARD:0019501,GARD:0007910,Rare ophthalmic disorder +GARD:0022081,GARD:0022513,GARD:0019501,GARD:0019672,Rare developmental defect during embryogenesis +GARD:0022081,GARD:0022513,GARD:0019501,GARD:0007910,Rare developmental defect during embryogenesis +GARD:0022081,GARD:0022520,GARD:0019501,GARD:0022123,Rare ophthalmic disorder +GARD:0022081,GARD:0022520,GARD:0019501,GARD:0017130,Rare ophthalmic disorder +GARD:0022081,GARD:0022520,GARD:0019501,GARD:0005630,Rare ophthalmic disorder +GARD:0022081,GARD:0022513,GARD:0019501,GARD:0005630,Rare developmental defect during embryogenesis +GARD:0022081,GARD:0022520,GARD:0019501,GARD:0019672,Rare ophthalmic disorder +GARD:0022081,GARD:0022513,GARD:0019501,GARD:0022123,Rare developmental defect during embryogenesis +GARD:0022081,GARD:0022513,GARD:0019501,GARD:0017130,Rare developmental defect during embryogenesis +GARD:0022082,GARD:0022513,GARD:0016857,GARD:0012844,Rare developmental defect during embryogenesis +GARD:0022082,GARD:0022520,GARD:0022135,GARD:0012844,Rare ophthalmic disorder +GARD:0022082,GARD:0022520,GARD:0022135,GARD:0007011,Rare ophthalmic disorder +GARD:0022082,GARD:0022520,GARD:0022135,GARD:0019493,Rare ophthalmic disorder +GARD:0022082,GARD:0022513,GARD:0016857,GARD:0019493,Rare developmental defect during embryogenesis +GARD:0022082,GARD:0022513,GARD:0016857,GARD:0007011,Rare developmental defect during embryogenesis +GARD:0022082,GARD:0022513,GARD:0016857,GARD:0010617,Rare developmental defect during embryogenesis +GARD:0022082,GARD:0022520,GARD:0022135,GARD:0017844,Rare ophthalmic disorder +GARD:0022082,GARD:0022513,GARD:0016857,GARD:0021940,Rare developmental defect during embryogenesis +GARD:0022082,GARD:0022520,GARD:0022135,GARD:0010617,Rare ophthalmic disorder +GARD:0022082,GARD:0022520,GARD:0022135,GARD:0021940,Rare ophthalmic disorder +GARD:0022082,GARD:0022513,GARD:0016857,GARD:0017844,Rare developmental defect during embryogenesis +GARD:0022083,GARD:0022520,GARD:0019511,GARD:0010905,Rare ophthalmic disorder +GARD:0022083,GARD:0022520,GARD:0019511,GARD:0020593,Rare ophthalmic disorder +GARD:0022083,GARD:0022513,GARD:0019511,GARD:0010905,Rare developmental defect during embryogenesis +GARD:0022083,GARD:0022531,GARD:0022164,GARD:0016858,Rare genetic disease +GARD:0022083,GARD:0022520,GARD:0019511,GARD:0016858,Rare ophthalmic disorder +GARD:0022083,GARD:0022513,GARD:0019511,GARD:0000351,Rare developmental defect during embryogenesis +GARD:0022083,GARD:0022513,GARD:0019511,GARD:0020593,Rare developmental defect during embryogenesis +GARD:0022083,GARD:0022531,GARD:0022164,GARD:0010905,Rare genetic disease +GARD:0022083,GARD:0022513,GARD:0019511,GARD:0016858,Rare developmental defect during embryogenesis +GARD:0022083,GARD:0022531,GARD:0022164,GARD:0020593,Rare genetic disease +GARD:0022083,GARD:0022531,GARD:0022164,GARD:0000351,Rare genetic disease +GARD:0022083,GARD:0022520,GARD:0019511,GARD:0000351,Rare ophthalmic disorder +GARD:0022084,GARD:0022520,GARD:0010025,GARD:0001440,Rare ophthalmic disorder +GARD:0022084,GARD:0022531,GARD:0022167,GARD:0007633,Rare genetic disease +GARD:0022084,GARD:0022531,GARD:0022167,GARD:0010300,Rare genetic disease +GARD:0022084,GARD:0022531,GARD:0022167,GARD:0017945,Rare genetic disease +GARD:0022084,GARD:0022520,GARD:0010025,GARD:0016845,Rare ophthalmic disorder 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developmental defect during embryogenesis +GARD:0022084,GARD:0022513,GARD:0010025,GARD:0017945,Rare developmental defect during embryogenesis +GARD:0022084,GARD:0022531,GARD:0022167,GARD:0000026,Rare genetic disease +GARD:0022084,GARD:0022531,GARD:0022167,GARD:0012486,Rare genetic disease +GARD:0022084,GARD:0022520,GARD:0010025,GARD:0017945,Rare ophthalmic disorder +GARD:0022084,GARD:0022520,GARD:0010025,GARD:0019494,Rare ophthalmic disorder +GARD:0022084,GARD:0022531,GARD:0022167,GARD:0016845,Rare genetic disease +GARD:0022084,GARD:0022531,GARD:0022167,GARD:0019494,Rare genetic disease +GARD:0022084,GARD:0022513,GARD:0010025,GARD:0000026,Rare developmental defect during embryogenesis +GARD:0022084,GARD:0022520,GARD:0010025,GARD:0000804,Rare ophthalmic disorder +GARD:0022084,GARD:0022531,GARD:0022167,GARD:0008422,Rare genetic disease +GARD:0022084,GARD:0022513,GARD:0010025,GARD:0007633,Rare developmental defect during embryogenesis 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developmental defect during embryogenesis +GARD:0022084,GARD:0022520,GARD:0010025,GARD:0002523,Rare ophthalmic disorder +GARD:0022084,GARD:0022513,GARD:0010025,GARD:0009420,Rare developmental defect during embryogenesis +GARD:0022085,GARD:0022520,GARD:0022091,GARD:0019879,Rare ophthalmic disorder +GARD:0022085,GARD:0022520,GARD:0022091,GARD:0009285,Rare ophthalmic disorder +GARD:0022085,GARD:0022520,GARD:0022091,GARD:0019878,Rare ophthalmic disorder +GARD:0022085,GARD:0022520,GARD:0022091,GARD:0019880,Rare ophthalmic disorder +GARD:0022085,GARD:0022520,GARD:0022091,GARD:0022134,Rare ophthalmic disorder +GARD:0022085,GARD:0022520,GARD:0022091,GARD:0019877,Rare ophthalmic disorder +GARD:0022086,GARD:0022520,GARD:0019513,GARD:0020053,Rare ophthalmic disorder +GARD:0022086,GARD:0022520,GARD:0019513,GARD:0002546,Rare ophthalmic disorder +GARD:0022086,GARD:0022520,GARD:0019513,GARD:0007854,Rare ophthalmic disorder +GARD:0022086,GARD:0022520,GARD:0019513,GARD:0010940,Rare ophthalmic disorder 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ophthalmic disorder +GARD:0022089,GARD:0022520,GARD:0022088,GARD:0016560,Rare ophthalmic disorder +GARD:0022089,GARD:0022520,GARD:0022088,GARD:0018683,Rare ophthalmic disorder +GARD:0022089,GARD:0022520,GARD:0022088,GARD:0004577,Rare ophthalmic disorder +GARD:0022089,GARD:0022520,GARD:0022088,GARD:0005188,Rare ophthalmic disorder +GARD:0022089,GARD:0022520,GARD:0022088,GARD:0005749,Rare ophthalmic disorder +GARD:0022089,GARD:0022520,GARD:0022088,GARD:0003999,Rare ophthalmic disorder +GARD:0022089,GARD:0022520,GARD:0022088,GARD:0000689,Rare ophthalmic disorder +GARD:0022089,GARD:0022520,GARD:0022088,GARD:0005286,Rare ophthalmic disorder +GARD:0022089,GARD:0022520,GARD:0022088,GARD:0000943,Rare ophthalmic disorder +GARD:0022089,GARD:0022520,GARD:0022088,GARD:0005691,Rare ophthalmic disorder +GARD:0022089,GARD:0022520,GARD:0022088,GARD:0010518,Rare ophthalmic disorder +GARD:0022089,GARD:0022520,GARD:0022088,GARD:0002580,Rare ophthalmic disorder 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ophthalmic disorder +GARD:0022090,GARD:0022520,GARD:0022087,GARD:0002153,Rare ophthalmic disorder +GARD:0022090,GARD:0022520,GARD:0022087,GARD:0019517,Rare ophthalmic disorder +GARD:0022090,GARD:0022520,GARD:0022087,GARD:0011895,Rare ophthalmic disorder +GARD:0022090,GARD:0022520,GARD:0022087,GARD:0022133,Rare ophthalmic disorder +GARD:0022091,GARD:0022520,GARD:0022090,GARD:0021365,Rare ophthalmic disorder +GARD:0022091,GARD:0022520,GARD:0022090,GARD:0001421,Rare ophthalmic disorder +GARD:0022091,GARD:0022520,GARD:0022090,GARD:0003089,Rare ophthalmic disorder +GARD:0022091,GARD:0022520,GARD:0022090,GARD:0022085,Rare ophthalmic disorder +GARD:0022091,GARD:0022520,GARD:0022090,GARD:0003113,Rare ophthalmic disorder +GARD:0022091,GARD:0022520,GARD:0022090,GARD:0022131,Rare ophthalmic disorder +GARD:0022092,GARD:0022520,GARD:0019535,GARD:0016535,Rare ophthalmic disorder +GARD:0022092,GARD:0022520,GARD:0019535,GARD:0002452,Rare ophthalmic disorder +GARD:0022092,GARD:0022513,GARD:0019535,GARD:0006984,Rare developmental defect during embryogenesis +GARD:0022092,GARD:0022513,GARD:0019535,GARD:0016549,Rare developmental defect during embryogenesis +GARD:0022092,GARD:0022520,GARD:0019535,GARD:0004936,Rare ophthalmic disorder +GARD:0022092,GARD:0022520,GARD:0019535,GARD:0005530,Rare ophthalmic disorder +GARD:0022092,GARD:0022520,GARD:0019535,GARD:0006457,Rare ophthalmic disorder +GARD:0022092,GARD:0022513,GARD:0019535,GARD:0005530,Rare developmental defect during embryogenesis +GARD:0022092,GARD:0022520,GARD:0019535,GARD:0006984,Rare ophthalmic disorder +GARD:0022092,GARD:0022513,GARD:0019535,GARD:0005481,Rare developmental defect during embryogenesis +GARD:0022092,GARD:0022513,GARD:0019535,GARD:0006667,Rare developmental defect during embryogenesis +GARD:0022092,GARD:0022520,GARD:0019535,GARD:0017688,Rare ophthalmic disorder +GARD:0022092,GARD:0022513,GARD:0019535,GARD:0000912,Rare developmental defect during embryogenesis +GARD:0022092,GARD:0022513,GARD:0019535,GARD:0006457,Rare developmental defect during embryogenesis +GARD:0022092,GARD:0022520,GARD:0019535,GARD:0016549,Rare ophthalmic disorder +GARD:0022092,GARD:0022520,GARD:0019535,GARD:0000912,Rare ophthalmic disorder +GARD:0022092,GARD:0022513,GARD:0019535,GARD:0017070,Rare developmental defect during embryogenesis +GARD:0022092,GARD:0022520,GARD:0019535,GARD:0018766,Rare ophthalmic disorder +GARD:0022092,GARD:0022513,GARD:0019535,GARD:0017688,Rare developmental defect during embryogenesis +GARD:0022092,GARD:0022513,GARD:0019535,GARD:0004936,Rare developmental defect during embryogenesis +GARD:0022092,GARD:0022513,GARD:0019535,GARD:0016535,Rare developmental defect during embryogenesis +GARD:0022092,GARD:0022513,GARD:0019535,GARD:0018766,Rare developmental defect during embryogenesis +GARD:0022092,GARD:0022520,GARD:0019535,GARD:0017070,Rare ophthalmic disorder +GARD:0022092,GARD:0022520,GARD:0019535,GARD:0005481,Rare ophthalmic disorder +GARD:0022092,GARD:0022513,GARD:0019535,GARD:0002452,Rare developmental defect during embryogenesis +GARD:0022092,GARD:0022520,GARD:0019535,GARD:0010938,Rare ophthalmic disorder +GARD:0022092,GARD:0022520,GARD:0019535,GARD:0006667,Rare ophthalmic disorder +GARD:0022092,GARD:0022513,GARD:0019535,GARD:0010938,Rare developmental defect during embryogenesis +GARD:0022093,GARD:0022513,GARD:0019534,GARD:0017579,Rare developmental defect during embryogenesis +GARD:0022093,GARD:0022520,GARD:0019534,GARD:0002452,Rare ophthalmic disorder +GARD:0022093,GARD:0022513,GARD:0019534,GARD:0005481,Rare developmental defect during embryogenesis +GARD:0022093,GARD:0022531,GARD:0022171,GARD:0004936,Rare genetic disease +GARD:0022093,GARD:0022513,GARD:0019534,GARD:0005507,Rare developmental defect during embryogenesis +GARD:0022093,GARD:0022520,GARD:0019534,GARD:0004936,Rare ophthalmic disorder +GARD:0022093,GARD:0022531,GARD:0022171,GARD:0002452,Rare genetic disease +GARD:0022093,GARD:0022513,GARD:0019534,GARD:0016740,Rare developmental defect during embryogenesis +GARD:0022093,GARD:0022520,GARD:0019534,GARD:0005507,Rare ophthalmic disorder +GARD:0022093,GARD:0022520,GARD:0019534,GARD:0005481,Rare ophthalmic disorder +GARD:0022093,GARD:0022520,GARD:0019534,GARD:0016740,Rare ophthalmic disorder +GARD:0022093,GARD:0022513,GARD:0019534,GARD:0004936,Rare developmental defect during embryogenesis +GARD:0022093,GARD:0022513,GARD:0019534,GARD:0002452,Rare developmental defect during embryogenesis +GARD:0022093,GARD:0022531,GARD:0022171,GARD:0016740,Rare genetic disease +GARD:0022093,GARD:0022520,GARD:0019534,GARD:0017579,Rare ophthalmic disorder +GARD:0022093,GARD:0022531,GARD:0022171,GARD:0005481,Rare genetic disease +GARD:0022093,GARD:0022531,GARD:0022171,GARD:0005507,Rare genetic disease +GARD:0022093,GARD:0022531,GARD:0022171,GARD:0017579,Rare genetic disease +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0010142,Rare genetic disease +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0016652,Rare genetic disease +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0016652,Rare ophthalmic disorder +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0002576,Rare ophthalmic disorder +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0010081,Rare ophthalmic disorder +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0005775,Rare ophthalmic disorder +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0018869,Rare ophthalmic disorder +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0001425,Rare ophthalmic disorder +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0004982,Rare ophthalmic disorder +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0005775,Rare genetic disease +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0008694,Rare ophthalmic disorder +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0008695,Rare ophthalmic disorder +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0010081,Rare genetic disease +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0022216,Rare genetic disease +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0004139,Rare ophthalmic disorder +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0000236,Rare genetic disease +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0004982,Rare genetic disease +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0008695,Rare genetic disease +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0002026,Rare genetic disease +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0004870,Rare genetic disease +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0008696,Rare genetic disease +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0002559,Rare genetic disease +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0006996,Rare genetic disease +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0010142,Rare ophthalmic disorder +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0012610,Rare genetic disease +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0006996,Rare ophthalmic disorder +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0008696,Rare ophthalmic disorder +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0001425,Rare genetic disease +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0000236,Rare ophthalmic disorder +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0008694,Rare genetic disease +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0007011,Rare ophthalmic disorder +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0002576,Rare genetic disease +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0007011,Rare genetic disease +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0002026,Rare ophthalmic disorder +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0004870,Rare ophthalmic disorder +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0012610,Rare ophthalmic disorder +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0018869,Rare genetic disease +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0002559,Rare ophthalmic disorder +GARD:0022094,GARD:0022520,GARD:0022095,GARD:0022216,Rare ophthalmic disorder +GARD:0022094,GARD:0022531,GARD:0022095,GARD:0004139,Rare genetic disease +GARD:0022095,GARD:0022531,GARD:0022149,GARD:0022094,Rare genetic disease +GARD:0022095,GARD:0022520,GARD:0022135,GARD:0022094,Rare ophthalmic disorder +GARD:0022096,GARD:0022531,GARD:0022187,GARD:0003999,Rare genetic disease +GARD:0022096,GARD:0022531,GARD:0022187,GARD:0010050,Rare genetic disease +GARD:0022096,GARD:0022531,GARD:0022187,GARD:0016480,Rare genetic disease +GARD:0022096,GARD:0022531,GARD:0022187,GARD:0010123,Rare genetic disease +GARD:0022096,GARD:0022520,GARD:0022100,GARD:0000200,Rare ophthalmic disorder +GARD:0022096,GARD:0022520,GARD:0022100,GARD:0017208,Rare ophthalmic disorder +GARD:0022096,GARD:0022531,GARD:0022187,GARD:0016757,Rare genetic disease +GARD:0022096,GARD:0022520,GARD:0022100,GARD:0006061,Rare ophthalmic disorder +GARD:0022096,GARD:0022520,GARD:0022100,GARD:0010050,Rare ophthalmic disorder +GARD:0022096,GARD:0022520,GARD:0022100,GARD:0010123,Rare ophthalmic disorder +GARD:0022096,GARD:0022520,GARD:0022100,GARD:0010049,Rare ophthalmic disorder +GARD:0022096,GARD:0022520,GARD:0022100,GARD:0003999,Rare ophthalmic disorder +GARD:0022096,GARD:0022531,GARD:0022187,GARD:0010049,Rare genetic disease +GARD:0022096,GARD:0022531,GARD:0022187,GARD:0000200,Rare genetic disease +GARD:0022096,GARD:0022520,GARD:0022100,GARD:0016757,Rare ophthalmic disorder +GARD:0022096,GARD:0022531,GARD:0022187,GARD:0017208,Rare genetic disease +GARD:0022096,GARD:0022520,GARD:0022100,GARD:0016480,Rare ophthalmic disorder +GARD:0022096,GARD:0022531,GARD:0022187,GARD:0006061,Rare genetic disease +GARD:0022097,GARD:0022520,GARD:0022099,GARD:0016694,Rare ophthalmic disorder +GARD:0022097,GARD:0022520,GARD:0022099,GARD:0017467,Rare ophthalmic disorder +GARD:0022097,GARD:0022531,GARD:0022099,GARD:0010049,Rare genetic disease +GARD:0022097,GARD:0022531,GARD:0022099,GARD:0017467,Rare genetic disease +GARD:0022097,GARD:0022520,GARD:0022099,GARD:0009821,Rare ophthalmic disorder +GARD:0022097,GARD:0022520,GARD:0022099,GARD:0000182,Rare ophthalmic disorder +GARD:0022097,GARD:0022531,GARD:0022099,GARD:0009179,Rare genetic disease +GARD:0022097,GARD:0022531,GARD:0022099,GARD:0009887,Rare genetic disease +GARD:0022097,GARD:0022520,GARD:0022099,GARD:0016480,Rare ophthalmic disorder +GARD:0022097,GARD:0022531,GARD:0022099,GARD:0009821,Rare genetic disease +GARD:0022097,GARD:0022520,GARD:0022099,GARD:0017200,Rare ophthalmic disorder +GARD:0022097,GARD:0022520,GARD:0022099,GARD:0000181,Rare ophthalmic disorder +GARD:0022097,GARD:0022520,GARD:0022099,GARD:0009179,Rare ophthalmic disorder +GARD:0022097,GARD:0022531,GARD:0022099,GARD:0000182,Rare genetic disease +GARD:0022097,GARD:0022520,GARD:0022099,GARD:0009887,Rare ophthalmic disorder +GARD:0022097,GARD:0022531,GARD:0022099,GARD:0016694,Rare genetic disease +GARD:0022097,GARD:0022531,GARD:0022099,GARD:0017200,Rare genetic disease +GARD:0022097,GARD:0022531,GARD:0022099,GARD:0000181,Rare genetic disease +GARD:0022097,GARD:0022520,GARD:0022099,GARD:0010049,Rare ophthalmic disorder 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disorder +GARD:0022101,GARD:0022520,GARD:0022135,GARD:0022103,Rare ophthalmic disorder +GARD:0022102,GARD:0022520,GARD:0022103,GARD:0021531,Rare ophthalmic disorder +GARD:0022102,GARD:0022520,GARD:0022103,GARD:0020153,Rare ophthalmic disorder +GARD:0022102,GARD:0022520,GARD:0022103,GARD:0001436,Rare ophthalmic disorder +GARD:0022102,GARD:0022520,GARD:0022103,GARD:0019369,Rare ophthalmic disorder +GARD:0022102,GARD:0022520,GARD:0022103,GARD:0021532,Rare ophthalmic disorder +GARD:0022102,GARD:0022520,GARD:0022103,GARD:0022127,Rare ophthalmic disorder +GARD:0022103,GARD:0022520,GARD:0022101,GARD:0004680,Rare ophthalmic disorder +GARD:0022103,GARD:0022520,GARD:0022101,GARD:0008640,Rare ophthalmic disorder +GARD:0022103,GARD:0022520,GARD:0022101,GARD:0018916,Rare ophthalmic disorder +GARD:0022103,GARD:0022520,GARD:0022101,GARD:0021121,Rare ophthalmic disorder +GARD:0022103,GARD:0022520,GARD:0022101,GARD:0019539,Rare ophthalmic disorder 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ophthalmic disorder +GARD:0022104,GARD:0022520,GARD:0022103,GARD:0021734,Rare ophthalmic disorder +GARD:0022104,GARD:0022520,GARD:0022103,GARD:0017412,Rare ophthalmic disorder +GARD:0022104,GARD:0022520,GARD:0022103,GARD:0017497,Rare ophthalmic disorder +GARD:0022104,GARD:0022520,GARD:0022103,GARD:0021530,Rare ophthalmic disorder +GARD:0022104,GARD:0022520,GARD:0022103,GARD:0006309,Rare ophthalmic disorder +GARD:0022104,GARD:0022520,GARD:0022103,GARD:0017945,Rare ophthalmic disorder +GARD:0022104,GARD:0022520,GARD:0022103,GARD:0006121,Rare ophthalmic disorder +GARD:0022104,GARD:0022520,GARD:0022103,GARD:0018908,Rare ophthalmic disorder +GARD:0022104,GARD:0022520,GARD:0022103,GARD:0001613,Rare ophthalmic disorder +GARD:0022104,GARD:0022520,GARD:0022103,GARD:0012779,Rare ophthalmic disorder +GARD:0022105,GARD:0022531,GARD:0022136,GARD:0015015,Rare genetic disease +GARD:0022105,GARD:0022531,GARD:0022136,GARD:0003995,Rare genetic disease +GARD:0022105,GARD:0022531,GARD:0022136,GARD:0010050,Rare genetic disease +GARD:0022105,GARD:0022531,GARD:0022136,GARD:0018925,Rare genetic disease +GARD:0022105,GARD:0022531,GARD:0022136,GARD:0016900,Rare genetic disease +GARD:0022105,GARD:0022520,GARD:0022136,GARD:0000181,Rare ophthalmic disorder +GARD:0022105,GARD:0022520,GARD:0022136,GARD:0003995,Rare ophthalmic disorder +GARD:0022105,GARD:0022520,GARD:0022136,GARD:0018925,Rare ophthalmic disorder +GARD:0022105,GARD:0022520,GARD:0022136,GARD:0001912,Rare ophthalmic disorder +GARD:0022105,GARD:0022531,GARD:0022136,GARD:0010118,Rare genetic disease +GARD:0022105,GARD:0022520,GARD:0022136,GARD:0013809,Rare ophthalmic disorder +GARD:0022105,GARD:0022531,GARD:0022136,GARD:0001912,Rare genetic disease +GARD:0022105,GARD:0022531,GARD:0022136,GARD:0018651,Rare genetic disease +GARD:0022105,GARD:0022531,GARD:0022136,GARD:0013809,Rare genetic disease +GARD:0022105,GARD:0022520,GARD:0022136,GARD:0016900,Rare ophthalmic disorder +GARD:0022105,GARD:0022531,GARD:0022136,GARD:0000181,Rare genetic disease +GARD:0022105,GARD:0022520,GARD:0022136,GARD:0018651,Rare ophthalmic disorder +GARD:0022105,GARD:0022531,GARD:0022136,GARD:0000917,Rare genetic disease +GARD:0022105,GARD:0022520,GARD:0022136,GARD:0010050,Rare ophthalmic disorder +GARD:0022105,GARD:0022520,GARD:0022136,GARD:0010118,Rare ophthalmic disorder +GARD:0022105,GARD:0022520,GARD:0022136,GARD:0016782,Rare ophthalmic disorder +GARD:0022105,GARD:0022520,GARD:0022136,GARD:0015015,Rare ophthalmic disorder +GARD:0022105,GARD:0022520,GARD:0022136,GARD:0000917,Rare ophthalmic disorder +GARD:0022105,GARD:0022531,GARD:0022136,GARD:0016782,Rare genetic disease +GARD:0022106,GARD:0022520,GARD:0022100,GARD:0000369,Rare ophthalmic disorder +GARD:0022106,GARD:0022531,GARD:0022187,GARD:0005453,Rare genetic disease +GARD:0022106,GARD:0022531,GARD:0022187,GARD:0000944,Rare genetic disease +GARD:0022106,GARD:0022531,GARD:0022187,GARD:0017593,Rare genetic disease +GARD:0022106,GARD:0022520,GARD:0022100,GARD:0005764,Rare ophthalmic disorder +GARD:0022106,GARD:0022520,GARD:0022100,GARD:0005453,Rare ophthalmic disorder +GARD:0022106,GARD:0022531,GARD:0022187,GARD:0003622,Rare genetic disease +GARD:0022106,GARD:0022520,GARD:0022100,GARD:0000944,Rare ophthalmic disorder +GARD:0022106,GARD:0022520,GARD:0022100,GARD:0017593,Rare ophthalmic disorder +GARD:0022106,GARD:0022531,GARD:0022187,GARD:0000369,Rare genetic disease +GARD:0022106,GARD:0022531,GARD:0022187,GARD:0003704,Rare genetic disease +GARD:0022106,GARD:0022520,GARD:0022100,GARD:0003704,Rare ophthalmic disorder +GARD:0022106,GARD:0022520,GARD:0022100,GARD:0016603,Rare ophthalmic disorder +GARD:0022106,GARD:0022531,GARD:0022187,GARD:0005764,Rare genetic disease +GARD:0022106,GARD:0022531,GARD:0022187,GARD:0016603,Rare genetic disease +GARD:0022106,GARD:0022520,GARD:0022100,GARD:0003622,Rare ophthalmic disorder +GARD:0022107,GARD:0022531,GARD:0022108,GARD:0001437,Rare genetic disease +GARD:0022107,GARD:0022531,GARD:0022108,GARD:0002078,Rare genetic disease +GARD:0022107,GARD:0022520,GARD:0022108,GARD:0003451,Rare ophthalmic disorder +GARD:0022107,GARD:0022531,GARD:0022108,GARD:0016802,Rare genetic disease +GARD:0022107,GARD:0022531,GARD:0022108,GARD:0003451,Rare genetic disease +GARD:0022107,GARD:0022520,GARD:0022108,GARD:0016802,Rare ophthalmic disorder +GARD:0022107,GARD:0022520,GARD:0022108,GARD:0002078,Rare ophthalmic disorder +GARD:0022107,GARD:0022520,GARD:0022108,GARD:0001437,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0003622,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0017529,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0000637,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0001463,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0010647,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0001196,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0000756,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0007206,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0017640,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0021331,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0007654,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0009643,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0022107,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0019538,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0017411,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0004636,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0007206,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0001196,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0019538,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0013264,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0022437,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0003622,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0009455,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0003066,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0016603,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0006426,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0005787,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0010121,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0004003,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0022437,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0022350,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0017826,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0018025,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0022435,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0009455,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0007737,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0001463,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0002441,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0004695,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0009499,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0017032,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0006479,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0005787,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0021331,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0010647,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0002441,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0022435,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0003953,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0010782,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0017826,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0006482,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0004636,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0000380,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0003066,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0006482,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0005764,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0007737,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0010168,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0017031,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0017070,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0004938,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0002835,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0000435,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0013781,Rare genetic disease +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0000944,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0010520,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0009499,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0000756,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0017070,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0002835,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0000944,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0004695,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0021752,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0005764,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0010973,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0009706,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0000380,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0004050,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0004938,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0021752,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0010520,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0013781,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0006426,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0004050,Rare genetic disease 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+GARD:0022108,GARD:0022531,GARD:0018916,GARD:0002521,Rare genetic disease +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0010782,Rare ophthalmic disorder +GARD:0022108,GARD:0022520,GARD:0018916,GARD:0002521,Rare ophthalmic disorder +GARD:0022108,GARD:0022531,GARD:0018916,GARD:0010168,Rare genetic disease +GARD:0022109,GARD:0022520,GARD:0019539,GARD:0017412,Rare ophthalmic disorder +GARD:0022109,GARD:0022531,GARD:0019539,GARD:0006778,Rare genetic disease +GARD:0022109,GARD:0022531,GARD:0019539,GARD:0002599,Rare genetic disease +GARD:0022109,GARD:0022531,GARD:0019539,GARD:0017412,Rare genetic disease +GARD:0022109,GARD:0022531,GARD:0019539,GARD:0007224,Rare genetic disease +GARD:0022109,GARD:0022531,GARD:0019539,GARD:0010782,Rare genetic disease +GARD:0022109,GARD:0022531,GARD:0019539,GARD:0000380,Rare genetic disease +GARD:0022109,GARD:0022520,GARD:0019539,GARD:0000380,Rare ophthalmic disorder +GARD:0022109,GARD:0022520,GARD:0019539,GARD:0007224,Rare ophthalmic disorder +GARD:0022109,GARD:0022531,GARD:0019539,GARD:0016740,Rare genetic disease +GARD:0022109,GARD:0022520,GARD:0019539,GARD:0016740,Rare ophthalmic disorder +GARD:0022109,GARD:0022520,GARD:0019539,GARD:0004160,Rare ophthalmic disorder +GARD:0022109,GARD:0022520,GARD:0019539,GARD:0006778,Rare ophthalmic disorder +GARD:0022109,GARD:0022520,GARD:0019539,GARD:0002599,Rare ophthalmic disorder +GARD:0022109,GARD:0022531,GARD:0019539,GARD:0007341,Rare genetic disease +GARD:0022109,GARD:0022520,GARD:0019539,GARD:0010782,Rare ophthalmic disorder +GARD:0022109,GARD:0022520,GARD:0019539,GARD:0007341,Rare ophthalmic disorder +GARD:0022109,GARD:0022531,GARD:0019539,GARD:0004160,Rare genetic disease +GARD:0022110,GARD:0022520,GARD:0022135,GARD:0012074,Rare ophthalmic disorder +GARD:0022110,GARD:0022520,GARD:0022135,GARD:0022453,Rare ophthalmic disorder +GARD:0022110,GARD:0022520,GARD:0022135,GARD:0019548,Rare ophthalmic disorder +GARD:0022110,GARD:0022520,GARD:0022135,GARD:0020333,Rare ophthalmic disorder +GARD:0022110,GARD:0022520,GARD:0022135,GARD:0019121,Rare ophthalmic disorder +GARD:0022110,GARD:0022520,GARD:0022135,GARD:0022188,Rare ophthalmic disorder +GARD:0022110,GARD:0022520,GARD:0022135,GARD:0017422,Rare ophthalmic disorder +GARD:0022110,GARD:0022520,GARD:0022135,GARD:0021885,Rare ophthalmic disorder +GARD:0022111,GARD:0022520,GARD:0022188,GARD:0019522,Rare ophthalmic disorder +GARD:0022111,GARD:0022520,GARD:0022188,GARD:0019524,Rare ophthalmic disorder +GARD:0022112,GARD:0022513,GARD:0016857,GARD:0013354,Rare developmental defect during embryogenesis +GARD:0022112,GARD:0022513,GARD:0016857,GARD:0022129,Rare developmental defect during embryogenesis +GARD:0022112,GARD:0022513,GARD:0016857,GARD:0017822,Rare developmental defect during embryogenesis +GARD:0022112,GARD:0022520,GARD:0022120,GARD:0013354,Rare ophthalmic disorder +GARD:0022112,GARD:0022520,GARD:0022120,GARD:0022129,Rare ophthalmic disorder +GARD:0022112,GARD:0022513,GARD:0016857,GARD:0022130,Rare developmental defect during embryogenesis +GARD:0022112,GARD:0022513,GARD:0016857,GARD:0001438,Rare developmental defect during embryogenesis +GARD:0022112,GARD:0022520,GARD:0022120,GARD:0022130,Rare ophthalmic disorder +GARD:0022112,GARD:0022520,GARD:0022120,GARD:0017822,Rare ophthalmic disorder +GARD:0022112,GARD:0022513,GARD:0016857,GARD:0022128,Rare developmental defect during embryogenesis +GARD:0022112,GARD:0022520,GARD:0022120,GARD:0001438,Rare ophthalmic disorder +GARD:0022112,GARD:0022520,GARD:0022120,GARD:0022128,Rare ophthalmic disorder +GARD:0022113,GARD:0022531,GARD:0022153,GARD:0000383,Rare genetic disease +GARD:0022113,GARD:0022520,GARD:0022120,GARD:0015012,Rare ophthalmic disorder +GARD:0022113,GARD:0022520,GARD:0022120,GARD:0000383,Rare ophthalmic disorder +GARD:0022113,GARD:0022531,GARD:0022153,GARD:0015012,Rare genetic disease +GARD:0022114,GARD:0022520,GARD:0022120,GARD:0004559,Rare ophthalmic disorder +GARD:0022114,GARD:0022531,GARD:0022153,GARD:0004559,Rare genetic disease +GARD:0022114,GARD:0022531,GARD:0022153,GARD:0017411,Rare genetic disease +GARD:0022114,GARD:0022520,GARD:0022120,GARD:0017411,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0019546,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0004071,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0010126,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0006288,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0002443,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0019931,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0006479,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0004265,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0017968,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0021058,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0004072,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0012860,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0006468,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0005862,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0009283,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0010587,Rare ophthalmic disorder +GARD:0022115,GARD:0022520,GARD:0019930,GARD:0010009,Rare ophthalmic disorder +GARD:0022116,GARD:0022520,GARD:0019930,GARD:0021871,Rare ophthalmic disorder +GARD:0022116,GARD:0022520,GARD:0019930,GARD:0017804,Rare ophthalmic disorder +GARD:0022116,GARD:0022520,GARD:0019930,GARD:0017858,Rare ophthalmic disorder +GARD:0022116,GARD:0022520,GARD:0019930,GARD:0017893,Rare ophthalmic disorder +GARD:0022116,GARD:0022520,GARD:0019930,GARD:0017898,Rare ophthalmic disorder +GARD:0022116,GARD:0022520,GARD:0019930,GARD:0012062,Rare ophthalmic disorder +GARD:0022116,GARD:0022520,GARD:0019930,GARD:0019547,Rare ophthalmic disorder +GARD:0022116,GARD:0022520,GARD:0019930,GARD:0017573,Rare ophthalmic disorder +GARD:0022116,GARD:0022520,GARD:0019930,GARD:0017871,Rare ophthalmic disorder +GARD:0022116,GARD:0022520,GARD:0019930,GARD:0012117,Rare ophthalmic disorder +GARD:0022116,GARD:0022520,GARD:0019930,GARD:0017687,Rare ophthalmic disorder +GARD:0022116,GARD:0022520,GARD:0019930,GARD:0001548,Rare ophthalmic disorder +GARD:0022116,GARD:0022520,GARD:0019930,GARD:0007009,Rare ophthalmic disorder +GARD:0022117,GARD:0022531,GARD:0020298,GARD:0012486,Rare genetic disease +GARD:0022117,GARD:0022531,GARD:0022153,GARD:0017719,Rare genetic disease +GARD:0022117,GARD:0022531,GARD:0022153,GARD:0012486,Rare genetic disease +GARD:0022117,GARD:0022513,GARD:0016857,GARD:0012397,Rare developmental defect during embryogenesis +GARD:0022117,GARD:0022520,GARD:0022120,GARD:0012397,Rare ophthalmic disorder +GARD:0022117,GARD:0022513,GARD:0016857,GARD:0017719,Rare developmental defect during embryogenesis +GARD:0022117,GARD:0022513,GARD:0016857,GARD:0004106,Rare developmental defect during embryogenesis +GARD:0022117,GARD:0022520,GARD:0022120,GARD:0004106,Rare ophthalmic disorder +GARD:0022117,GARD:0022520,GARD:0022120,GARD:0017719,Rare ophthalmic disorder +GARD:0022117,GARD:0022531,GARD:0022153,GARD:0012397,Rare genetic disease +GARD:0022117,GARD:0022531,GARD:0020298,GARD:0017719,Rare genetic disease +GARD:0022117,GARD:0022531,GARD:0022153,GARD:0004106,Rare genetic disease +GARD:0022117,GARD:0022531,GARD:0020298,GARD:0004106,Rare genetic disease +GARD:0022117,GARD:0022513,GARD:0016857,GARD:0012486,Rare developmental defect during embryogenesis +GARD:0022117,GARD:0022531,GARD:0020298,GARD:0012397,Rare genetic disease +GARD:0022117,GARD:0022520,GARD:0022120,GARD:0012486,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0017503,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0007122,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0007245,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0006291,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0004503,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0010510,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0000943,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0017568,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0008310,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0006677,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0003236,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0005496,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0017517,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0012592,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0006817,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0009920,Rare ophthalmic disorder +GARD:0022118,GARD:0022520,GARD:0022122,GARD:0011902,Rare ophthalmic disorder +GARD:0022119,GARD:0022520,GARD:0019930,GARD:0007777,Rare ophthalmic disorder +GARD:0022119,GARD:0022520,GARD:0019930,GARD:0022120,Rare ophthalmic disorder +GARD:0022119,GARD:0022520,GARD:0019930,GARD:0022121,Rare ophthalmic disorder +GARD:0022119,GARD:0022520,GARD:0019930,GARD:0019544,Rare ophthalmic disorder +GARD:0022119,GARD:0022520,GARD:0019930,GARD:0017632,Rare ophthalmic disorder +GARD:0022119,GARD:0022520,GARD:0019930,GARD:0010034,Rare ophthalmic disorder +GARD:0022119,GARD:0022520,GARD:0019930,GARD:0021837,Rare ophthalmic disorder +GARD:0022120,GARD:0022520,GARD:0022119,GARD:0019540,Rare ophthalmic disorder +GARD:0022120,GARD:0022520,GARD:0022119,GARD:0008419,Rare ophthalmic disorder +GARD:0022120,GARD:0022520,GARD:0022119,GARD:0022037,Rare ophthalmic disorder +GARD:0022120,GARD:0022520,GARD:0022119,GARD:0021842,Rare ophthalmic disorder +GARD:0022120,GARD:0022520,GARD:0022119,GARD:0022112,Rare ophthalmic disorder +GARD:0022120,GARD:0022520,GARD:0022119,GARD:0022117,Rare ophthalmic disorder +GARD:0022120,GARD:0022520,GARD:0022119,GARD:0022114,Rare ophthalmic disorder +GARD:0022120,GARD:0022520,GARD:0022119,GARD:0019888,Rare ophthalmic disorder +GARD:0022120,GARD:0022520,GARD:0022119,GARD:0022113,Rare ophthalmic disorder +GARD:0022121,GARD:0022531,GARD:0022152,GARD:0019545,Rare genetic disease +GARD:0022121,GARD:0022531,GARD:0022152,GARD:0010355,Rare genetic disease +GARD:0022121,GARD:0022520,GARD:0022119,GARD:0010355,Rare ophthalmic disorder +GARD:0022121,GARD:0022520,GARD:0022119,GARD:0019545,Rare ophthalmic disorder +GARD:0022122,GARD:0022520,GARD:0019930,GARD:0022118,Rare ophthalmic disorder +GARD:0022122,GARD:0022520,GARD:0019930,GARD:0019541,Rare ophthalmic disorder +GARD:0022123,GARD:0022520,GARD:0022081,,Rare ophthalmic disorder +GARD:0022123,GARD:0022513,GARD:0022081,,Rare developmental defect during embryogenesis +GARD:0022124,GARD:0022513,GARD:0019501,,Rare developmental defect during embryogenesis +GARD:0022124,GARD:0022520,GARD:0019501,,Rare ophthalmic disorder +GARD:0022125,GARD:0022520,GARD:0016484,,Rare ophthalmic disorder +GARD:0022125,GARD:0022513,GARD:0016484,,Rare developmental defect during embryogenesis +GARD:0022126,GARD:0022513,GARD:0019534,,Rare developmental defect during embryogenesis +GARD:0022126,GARD:0022520,GARD:0019534,,Rare ophthalmic disorder +GARD:0022127,GARD:0022520,GARD:0022102,,Rare ophthalmic disorder +GARD:0022128,GARD:0022520,GARD:0022112,,Rare ophthalmic disorder +GARD:0022128,GARD:0022513,GARD:0022112,,Rare developmental defect during embryogenesis +GARD:0022129,GARD:0022520,GARD:0022112,,Rare ophthalmic disorder +GARD:0022129,GARD:0022513,GARD:0022112,,Rare developmental defect during embryogenesis +GARD:0022130,GARD:0022513,GARD:0022112,,Rare developmental defect during embryogenesis +GARD:0022130,GARD:0022520,GARD:0022112,,Rare ophthalmic disorder +GARD:0022131,GARD:0022520,GARD:0022091,,Rare ophthalmic disorder +GARD:0022132,GARD:0022520,GARD:0022090,,Rare ophthalmic disorder +GARD:0022133,GARD:0022520,GARD:0022090,,Rare ophthalmic disorder +GARD:0022134,GARD:0022520,GARD:0022085,,Rare ophthalmic disorder +GARD:0022135,GARD:0022520,GARD:0022520,GARD:0022110,Rare ophthalmic disorder +GARD:0022135,GARD:0022520,GARD:0022520,GARD:0022101,Rare ophthalmic disorder +GARD:0022135,GARD:0022520,GARD:0022520,GARD:0019930,Rare ophthalmic disorder +GARD:0022135,GARD:0022520,GARD:0022520,GARD:0022088,Rare ophthalmic disorder +GARD:0022135,GARD:0022520,GARD:0022520,GARD:0022082,Rare ophthalmic disorder +GARD:0022135,GARD:0022520,GARD:0022520,GARD:0022095,Rare ophthalmic disorder +GARD:0022135,GARD:0022520,GARD:0022520,GARD:0022079,Rare ophthalmic disorder +GARD:0022135,GARD:0022520,GARD:0022520,GARD:0019549,Rare ophthalmic disorder +GARD:0022136,GARD:0022531,GARD:0018916,GARD:0022099,Rare genetic disease +GARD:0022136,GARD:0022531,GARD:0018916,GARD:0022105,Rare genetic disease +GARD:0022136,GARD:0022520,GARD:0018916,GARD:0022099,Rare ophthalmic disorder +GARD:0022136,GARD:0022520,GARD:0018916,GARD:0022105,Rare ophthalmic disorder +GARD:0022137,GARD:0022524,GARD:0020243,,Rare neurologic disease +GARD:0022137,GARD:0022533,GARD:0022139,,Rare disorder due to toxic effects +GARD:0022138,GARD:0022511,GARD:0021657,,Rare bone disease +GARD:0022138,GARD:0022533,GARD:0022139,,Rare disorder due to toxic effects +GARD:0022138,GARD:0022525,GARD:0021657,,Rare systemic or rheumatologic disease +GARD:0022139,GARD:0022533,GARD:0022533,GARD:0021896,Rare disorder due to toxic effects +GARD:0022139,GARD:0022533,GARD:0022533,GARD:0020057,Rare disorder due to toxic effects +GARD:0022139,GARD:0022533,GARD:0022533,GARD:0022137,Rare disorder due to toxic effects +GARD:0022139,GARD:0022533,GARD:0022533,GARD:0019099,Rare disorder due to toxic effects +GARD:0022139,GARD:0022533,GARD:0022533,GARD:0018900,Rare disorder due to toxic effects +GARD:0022139,GARD:0022533,GARD:0022533,GARD:0022138,Rare disorder due to toxic effects +GARD:0022140,GARD:0022531,GARD:0018915,GARD:0013591,Rare genetic disease +GARD:0022140,GARD:0022531,GARD:0018915,GARD:0021878,Rare genetic disease +GARD:0022141,GARD:0022524,GARD:0022524,GARD:0012959,Rare neurologic disease +GARD:0022141,GARD:0022524,GARD:0022524,GARD:0013591,Rare neurologic disease +GARD:0022142,GARD:0022531,GARD:0002392,,Rare genetic disease +GARD:0022142,GARD:0022513,GARD:0002392,,Rare developmental defect during embryogenesis +GARD:0022142,GARD:0022511,GARD:0002392,,Rare bone disease +GARD:0022143,GARD:0022508,GARD:0021354,,Rare inborn errors of metabolism +GARD:0022143,GARD:0022531,GARD:0021354,,Rare genetic disease +GARD:0022143,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0022143,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0022144,GARD:0022520,GARD:0019527,,Rare ophthalmic disorder +GARD:0022144,GARD:0022531,GARD:0022170,,Rare genetic disease +GARD:0022144,GARD:0022531,GARD:0020006,,Rare genetic disease +GARD:0022144,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0022145,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0022145,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0022145,GARD:0022531,GARD:0021614,,Rare genetic disease +GARD:0022145,GARD:0022524,GARD:0019819,,Rare neurologic disease +GARD:0022145,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0022146,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0022146,GARD:0022531,GARD:0021018,,Rare genetic disease +GARD:0022147,GARD:0022516,GARD:0018918,,Rare gastroenterologic disease +GARD:0022147,GARD:0022516,GARD:0008689,,Rare gastroenterologic disease +GARD:0022147,GARD:0022536,GARD:0018918,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022148,GARD:0022516,GARD:0018918,GARD:0012316,Rare gastroenterologic disease +GARD:0022148,GARD:0022531,GARD:0021546,GARD:0008466,Rare genetic disease +GARD:0022148,GARD:0022531,GARD:0021546,GARD:0012316,Rare genetic disease +GARD:0022148,GARD:0022516,GARD:0008689,GARD:0012314,Rare gastroenterologic disease +GARD:0022148,GARD:0022536,GARD:0018918,GARD:0008466,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022148,GARD:0022531,GARD:0021546,GARD:0017133,Rare genetic disease +GARD:0022148,GARD:0022536,GARD:0018918,GARD:0012314,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022148,GARD:0022516,GARD:0018918,GARD:0008466,Rare gastroenterologic disease +GARD:0022148,GARD:0022536,GARD:0018918,GARD:0012316,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022148,GARD:0022516,GARD:0008689,GARD:0008466,Rare gastroenterologic disease +GARD:0022148,GARD:0022536,GARD:0018918,GARD:0017737,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022148,GARD:0022536,GARD:0018918,GARD:0010775,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022148,GARD:0022536,GARD:0018918,GARD:0013565,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022148,GARD:0022516,GARD:0018918,GARD:0013565,Rare gastroenterologic disease +GARD:0022148,GARD:0022516,GARD:0008689,GARD:0012316,Rare gastroenterologic disease +GARD:0022148,GARD:0022531,GARD:0021546,GARD:0017049,Rare genetic disease +GARD:0022148,GARD:0022531,GARD:0021546,GARD:0001850,Rare genetic disease +GARD:0022148,GARD:0022536,GARD:0018918,GARD:0001850,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022148,GARD:0022516,GARD:0008689,GARD:0017133,Rare gastroenterologic disease +GARD:0022148,GARD:0022516,GARD:0008689,GARD:0017049,Rare gastroenterologic disease +GARD:0022148,GARD:0022516,GARD:0008689,GARD:0017737,Rare gastroenterologic disease +GARD:0022148,GARD:0022516,GARD:0018918,GARD:0017737,Rare gastroenterologic disease +GARD:0022148,GARD:0022516,GARD:0018918,GARD:0012314,Rare gastroenterologic disease +GARD:0022148,GARD:0022531,GARD:0021546,GARD:0013565,Rare genetic disease +GARD:0022148,GARD:0022516,GARD:0018918,GARD:0017049,Rare gastroenterologic disease +GARD:0022148,GARD:0022531,GARD:0021546,GARD:0010775,Rare genetic disease +GARD:0022148,GARD:0022516,GARD:0008689,GARD:0001850,Rare gastroenterologic disease +GARD:0022148,GARD:0022531,GARD:0021546,GARD:0012314,Rare genetic disease +GARD:0022148,GARD:0022516,GARD:0018918,GARD:0017133,Rare gastroenterologic disease +GARD:0022148,GARD:0022516,GARD:0018918,GARD:0010775,Rare gastroenterologic disease +GARD:0022148,GARD:0022516,GARD:0018918,GARD:0001850,Rare gastroenterologic disease +GARD:0022148,GARD:0022536,GARD:0018918,GARD:0017133,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022148,GARD:0022516,GARD:0008689,GARD:0010775,Rare gastroenterologic disease +GARD:0022148,GARD:0022516,GARD:0008689,GARD:0013565,Rare gastroenterologic disease +GARD:0022148,GARD:0022536,GARD:0018918,GARD:0017049,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022148,GARD:0022531,GARD:0021546,GARD:0017737,Rare genetic disease +GARD:0022149,GARD:0022531,GARD:0019782,GARD:0022095,Rare genetic disease +GARD:0022149,GARD:0022531,GARD:0019782,GARD:0020309,Rare genetic disease +GARD:0022149,GARD:0022531,GARD:0019782,GARD:0022159,Rare genetic disease +GARD:0022149,GARD:0022531,GARD:0019782,GARD:0006100,Rare genetic disease +GARD:0022149,GARD:0022531,GARD:0019782,GARD:0022181,Rare genetic disease +GARD:0022149,GARD:0022531,GARD:0019782,GARD:0022185,Rare genetic disease +GARD:0022149,GARD:0022531,GARD:0019782,GARD:0022166,Rare genetic disease +GARD:0022149,GARD:0022531,GARD:0019782,GARD:0022165,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0004072,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0009283,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0010587,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0004071,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0006479,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0010126,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0004265,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0002443,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0006468,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0017968,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0019931,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0005862,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0012860,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0019546,Rare genetic disease +GARD:0022150,GARD:0022531,GARD:0020309,GARD:0006288,Rare genetic disease +GARD:0022151,GARD:0022531,GARD:0020309,GARD:0012117,Rare genetic disease +GARD:0022151,GARD:0022531,GARD:0020309,GARD:0007009,Rare genetic disease +GARD:0022151,GARD:0022531,GARD:0020309,GARD:0017871,Rare genetic disease +GARD:0022151,GARD:0022531,GARD:0020309,GARD:0017893,Rare genetic disease +GARD:0022151,GARD:0022531,GARD:0020309,GARD:0017898,Rare genetic disease +GARD:0022151,GARD:0022531,GARD:0020309,GARD:0017573,Rare genetic disease +GARD:0022151,GARD:0022531,GARD:0020309,GARD:0001548,Rare genetic disease +GARD:0022151,GARD:0022531,GARD:0020309,GARD:0017858,Rare genetic disease +GARD:0022151,GARD:0022531,GARD:0020309,GARD:0017687,Rare genetic disease +GARD:0022151,GARD:0022531,GARD:0020309,GARD:0019547,Rare genetic disease +GARD:0022151,GARD:0022531,GARD:0020309,GARD:0017804,Rare genetic disease +GARD:0022152,GARD:0022531,GARD:0020309,GARD:0022153,Rare genetic disease +GARD:0022152,GARD:0022531,GARD:0020309,GARD:0021837,Rare genetic disease +GARD:0022152,GARD:0022531,GARD:0020309,GARD:0010034,Rare genetic disease +GARD:0022152,GARD:0022531,GARD:0020309,GARD:0017632,Rare genetic disease +GARD:0022152,GARD:0022531,GARD:0020309,GARD:0007777,Rare genetic disease +GARD:0022152,GARD:0022531,GARD:0020309,GARD:0019544,Rare genetic disease +GARD:0022152,GARD:0022531,GARD:0020309,GARD:0022121,Rare genetic disease +GARD:0022153,GARD:0022531,GARD:0022152,GARD:0008419,Rare genetic disease +GARD:0022153,GARD:0022531,GARD:0022152,GARD:0022114,Rare genetic disease +GARD:0022153,GARD:0022531,GARD:0022152,GARD:0019888,Rare genetic disease +GARD:0022153,GARD:0022531,GARD:0022152,GARD:0022117,Rare genetic disease +GARD:0022153,GARD:0022531,GARD:0022152,GARD:0022113,Rare genetic disease +GARD:0022153,GARD:0022531,GARD:0022152,GARD:0019540,Rare genetic disease +GARD:0022153,GARD:0022531,GARD:0022152,GARD:0022154,Rare genetic disease +GARD:0022154,GARD:0022531,GARD:0020298,GARD:0013354,Rare genetic disease +GARD:0022154,GARD:0022531,GARD:0020298,GARD:0001438,Rare genetic disease +GARD:0022154,GARD:0022531,GARD:0022153,GARD:0017822,Rare genetic disease +GARD:0022154,GARD:0022531,GARD:0022153,GARD:0013354,Rare genetic disease +GARD:0022154,GARD:0022531,GARD:0022153,GARD:0001438,Rare genetic disease +GARD:0022154,GARD:0022531,GARD:0020298,GARD:0017822,Rare genetic disease +GARD:0022155,GARD:0022531,GARD:0020309,GARD:0022156,Rare genetic disease +GARD:0022155,GARD:0022531,GARD:0020309,GARD:0022158,Rare genetic disease +GARD:0022156,GARD:0022531,GARD:0022155,GARD:0022157,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0004497,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000269,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0017840,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000559,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0017997,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0003903,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0016616,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0016648,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0002442,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0016637,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0001810,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000690,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0017563,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0001142,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0009487,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0019543,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0003524,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0006464,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0003596,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0008520,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000971,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000860,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0016722,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0006121,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000310,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0018923,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0016909,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000156,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0018842,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000094,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0004627,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0012590,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000358,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0012682,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0009182,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0008549,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0012816,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0009124,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0010572,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0018934,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0021817,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0012641,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0005535,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000192,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0009984,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0003449,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000345,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0018791,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0022369,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000381,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0002454,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0013354,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000371,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0005862,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0016630,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0001313,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0004577,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0003424,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000992,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0006475,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0005238,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0018729,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000905,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0004644,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0017962,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0000594,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0008341,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0018774,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0004050,Rare genetic disease +GARD:0022157,GARD:0022531,GARD:0022156,GARD:0006996,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0017568,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0006817,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0006291,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0017503,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0006677,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0007245,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0010510,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0012592,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0011902,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0017517,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0004503,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0003236,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0005496,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0009920,Rare genetic disease +GARD:0022158,GARD:0022531,GARD:0022155,GARD:0008310,Rare genetic disease +GARD:0022159,GARD:0022531,GARD:0022149,GARD:0022160,Rare genetic disease +GARD:0022159,GARD:0022531,GARD:0022149,GARD:0022163,Rare genetic disease +GARD:0022159,GARD:0022531,GARD:0022149,GARD:0019508,Rare genetic disease +GARD:0022160,GARD:0022531,GARD:0022159,GARD:0022161,Rare genetic disease +GARD:0022160,GARD:0022531,GARD:0020298,GARD:0022161,Rare genetic disease +GARD:0022160,GARD:0022531,GARD:0020298,GARD:0019496,Rare genetic disease +GARD:0022160,GARD:0022531,GARD:0022159,GARD:0019496,Rare genetic disease +GARD:0022161,GARD:0022531,GARD:0022160,GARD:0019507,Rare genetic disease +GARD:0022161,GARD:0022531,GARD:0022160,GARD:0019504,Rare genetic disease +GARD:0022161,GARD:0022531,GARD:0022160,GARD:0022162,Rare genetic disease +GARD:0022161,GARD:0022531,GARD:0022160,GARD:0019505,Rare genetic disease +GARD:0022161,GARD:0022531,GARD:0022160,GARD:0019674,Rare genetic disease +GARD:0022161,GARD:0022531,GARD:0022160,GARD:0000201,Rare genetic disease +GARD:0022161,GARD:0022531,GARD:0022160,GARD:0019671,Rare genetic disease +GARD:0022161,GARD:0022531,GARD:0022160,GARD:0019506,Rare genetic disease +GARD:0022161,GARD:0022531,GARD:0022160,GARD:0022080,Rare genetic disease +GARD:0022162,GARD:0022531,GARD:0022161,GARD:0005630,Rare genetic disease +GARD:0022162,GARD:0022531,GARD:0022161,GARD:0017130,Rare genetic disease +GARD:0022162,GARD:0022531,GARD:0022161,GARD:0007910,Rare genetic disease +GARD:0022162,GARD:0022531,GARD:0022161,GARD:0019672,Rare genetic disease +GARD:0022163,GARD:0022531,GARD:0022159,GARD:0022164,Rare genetic disease +GARD:0022163,GARD:0022531,GARD:0022159,GARD:0019512,Rare genetic disease +GARD:0022163,GARD:0022531,GARD:0022159,GARD:0019510,Rare genetic disease +GARD:0022164,GARD:0022531,GARD:0020298,GARD:0017784,Rare genetic disease +GARD:0022164,GARD:0022531,GARD:0022163,GARD:0022083,Rare genetic disease +GARD:0022164,GARD:0022531,GARD:0022163,GARD:0017784,Rare genetic disease +GARD:0022164,GARD:0022531,GARD:0020298,GARD:0022083,Rare genetic disease +GARD:0022165,GARD:0022531,GARD:0020298,GARD:0007011,Rare genetic disease +GARD:0022165,GARD:0022531,GARD:0020298,GARD:0019493,Rare genetic disease +GARD:0022165,GARD:0022531,GARD:0022149,GARD:0019493,Rare genetic disease +GARD:0022165,GARD:0022531,GARD:0020298,GARD:0017844,Rare genetic disease +GARD:0022165,GARD:0022531,GARD:0020298,GARD:0012844,Rare genetic disease +GARD:0022165,GARD:0022531,GARD:0022149,GARD:0017844,Rare genetic disease +GARD:0022165,GARD:0022531,GARD:0022149,GARD:0007011,Rare genetic disease +GARD:0022165,GARD:0022531,GARD:0022149,GARD:0012844,Rare genetic disease +GARD:0022166,GARD:0022531,GARD:0022149,GARD:0022174,Rare genetic disease +GARD:0022166,GARD:0022531,GARD:0022149,GARD:0022180,Rare genetic disease +GARD:0022166,GARD:0022531,GARD:0022149,GARD:0022168,Rare genetic disease +GARD:0022166,GARD:0022531,GARD:0022149,GARD:0020308,Rare genetic disease +GARD:0022166,GARD:0022531,GARD:0022149,GARD:0010025,Rare genetic disease +GARD:0022166,GARD:0022531,GARD:0022149,GARD:0022167,Rare genetic disease +GARD:0022167,GARD:0022531,GARD:0022166,GARD:0022084,Rare genetic disease +GARD:0022167,GARD:0022531,GARD:0020298,GARD:0022084,Rare genetic disease +GARD:0022167,GARD:0022531,GARD:0020298,GARD:0016484,Rare genetic disease +GARD:0022167,GARD:0022531,GARD:0022166,GARD:0016484,Rare genetic disease +GARD:0022168,GARD:0022531,GARD:0022166,GARD:0004380,Rare genetic disease +GARD:0022168,GARD:0022531,GARD:0022166,GARD:0000368,Rare genetic disease +GARD:0022169,GARD:0022531,GARD:0020308,GARD:0022170,Rare genetic disease +GARD:0022169,GARD:0022531,GARD:0020308,GARD:0016801,Rare genetic disease +GARD:0022170,GARD:0022531,GARD:0022169,GARD:0001199,Rare genetic disease +GARD:0022170,GARD:0022531,GARD:0022169,GARD:0007885,Rare genetic disease +GARD:0022170,GARD:0022531,GARD:0022169,GARD:0019533,Rare genetic disease +GARD:0022170,GARD:0022531,GARD:0022169,GARD:0017993,Rare genetic disease +GARD:0022170,GARD:0022531,GARD:0022169,GARD:0005554,Rare genetic disease +GARD:0022170,GARD:0022531,GARD:0022169,GARD:0007193,Rare genetic disease +GARD:0022170,GARD:0022531,GARD:0022169,GARD:0017365,Rare genetic disease +GARD:0022170,GARD:0022531,GARD:0022169,GARD:0007239,Rare genetic disease +GARD:0022170,GARD:0022531,GARD:0022169,GARD:0016742,Rare genetic disease 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+GARD:0022170,GARD:0022531,GARD:0022169,GARD:0002910,Rare genetic disease +GARD:0022170,GARD:0022531,GARD:0022169,GARD:0008341,Rare genetic disease +GARD:0022170,GARD:0022531,GARD:0022169,GARD:0012109,Rare genetic disease +GARD:0022170,GARD:0022531,GARD:0022169,GARD:0016647,Rare genetic disease +GARD:0022170,GARD:0022531,GARD:0022169,GARD:0001200,Rare genetic disease +GARD:0022170,GARD:0022531,GARD:0022169,GARD:0016740,Rare genetic disease +GARD:0022171,GARD:0022531,GARD:0020298,GARD:0022093,Rare genetic disease +GARD:0022171,GARD:0022531,GARD:0020308,GARD:0022093,Rare genetic disease +GARD:0022172,GARD:0022531,GARD:0020298,GARD:0012251,Rare genetic disease +GARD:0022172,GARD:0022531,GARD:0020308,GARD:0022173,Rare genetic disease +GARD:0022172,GARD:0022531,GARD:0020308,GARD:0012251,Rare genetic disease +GARD:0022172,GARD:0022531,GARD:0020298,GARD:0022173,Rare genetic disease +GARD:0022173,GARD:0022531,GARD:0022172,GARD:0006667,Rare genetic disease +GARD:0022173,GARD:0022531,GARD:0022172,GARD:0017688,Rare genetic disease +GARD:0022173,GARD:0022531,GARD:0022172,GARD:0002452,Rare genetic disease +GARD:0022173,GARD:0022531,GARD:0022172,GARD:0016535,Rare genetic disease +GARD:0022173,GARD:0022531,GARD:0022172,GARD:0000912,Rare genetic disease +GARD:0022173,GARD:0022531,GARD:0022172,GARD:0005481,Rare genetic disease +GARD:0022173,GARD:0022531,GARD:0022172,GARD:0006984,Rare genetic disease +GARD:0022173,GARD:0022531,GARD:0022172,GARD:0017070,Rare genetic disease +GARD:0022173,GARD:0022531,GARD:0022172,GARD:0016549,Rare genetic disease +GARD:0022173,GARD:0022531,GARD:0022172,GARD:0005530,Rare genetic disease +GARD:0022173,GARD:0022531,GARD:0022172,GARD:0004936,Rare genetic disease +GARD:0022173,GARD:0022531,GARD:0022172,GARD:0018766,Rare genetic disease +GARD:0022173,GARD:0022531,GARD:0022172,GARD:0006457,Rare genetic disease +GARD:0022174,GARD:0022531,GARD:0022166,GARD:0022175,Rare genetic disease +GARD:0022174,GARD:0022531,GARD:0022166,GARD:0016657,Rare genetic disease +GARD:0022174,GARD:0022531,GARD:0022166,GARD:0019523,Rare genetic disease +GARD:0022175,GARD:0022531,GARD:0022174,GARD:0022176,Rare genetic disease +GARD:0022175,GARD:0022531,GARD:0022174,GARD:0012794,Rare genetic disease +GARD:0022175,GARD:0022531,GARD:0022174,GARD:0003448,Rare genetic disease +GARD:0022175,GARD:0022531,GARD:0022174,GARD:0003105,Rare genetic disease +GARD:0022175,GARD:0022531,GARD:0022174,GARD:0002076,Rare genetic disease +GARD:0022175,GARD:0022531,GARD:0022174,GARD:0002137,Rare genetic disease +GARD:0022175,GARD:0022531,GARD:0022174,GARD:0002153,Rare genetic disease +GARD:0022175,GARD:0022531,GARD:0022174,GARD:0022178,Rare genetic disease +GARD:0022175,GARD:0022531,GARD:0022174,GARD:0006308,Rare genetic disease +GARD:0022175,GARD:0022531,GARD:0022174,GARD:0022179,Rare genetic disease +GARD:0022176,GARD:0022531,GARD:0022175,GARD:0022177,Rare genetic disease +GARD:0022176,GARD:0022531,GARD:0022175,GARD:0019521,Rare genetic disease +GARD:0022176,GARD:0022531,GARD:0022175,GARD:0019520,Rare genetic disease +GARD:0022176,GARD:0022531,GARD:0022175,GARD:0019519,Rare genetic disease +GARD:0022177,GARD:0022531,GARD:0022176,GARD:0017338,Rare genetic disease +GARD:0022177,GARD:0022531,GARD:0022176,GARD:0016878,Rare genetic disease +GARD:0022177,GARD:0022531,GARD:0022176,GARD:0021167,Rare genetic disease +GARD:0022177,GARD:0022531,GARD:0022176,GARD:0009275,Rare genetic disease +GARD:0022177,GARD:0022531,GARD:0022176,GARD:0009276,Rare genetic disease +GARD:0022177,GARD:0022531,GARD:0022176,GARD:0009732,Rare genetic disease +GARD:0022177,GARD:0022531,GARD:0022176,GARD:0009647,Rare genetic disease +GARD:0022177,GARD:0022531,GARD:0022176,GARD:0016877,Rare genetic disease +GARD:0022177,GARD:0022531,GARD:0022176,GARD:0009688,Rare genetic disease +GARD:0022177,GARD:0022531,GARD:0022176,GARD:0017525,Rare genetic disease +GARD:0022177,GARD:0022531,GARD:0022176,GARD:0017524,Rare genetic disease +GARD:0022178,GARD:0022531,GARD:0022175,GARD:0010247,Rare genetic disease +GARD:0022178,GARD:0022531,GARD:0022175,GARD:0000400,Rare genetic disease +GARD:0022178,GARD:0022531,GARD:0022175,GARD:0017349,Rare genetic disease +GARD:0022178,GARD:0022531,GARD:0022175,GARD:0016535,Rare genetic disease +GARD:0022179,GARD:0022531,GARD:0022175,GARD:0003113,Rare genetic disease +GARD:0022179,GARD:0022531,GARD:0022175,GARD:0003089,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0003999,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0018683,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0003295,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0004577,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0016560,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0016565,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0004160,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0002695,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0002580,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0007581,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0000689,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0005188,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0007633,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0010518,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0005286,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0012801,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0005691,Rare genetic disease +GARD:0022180,GARD:0022531,GARD:0022166,GARD:0006670,Rare genetic disease +GARD:0022181,GARD:0022531,GARD:0022149,GARD:0022187,Rare genetic disease +GARD:0022181,GARD:0022531,GARD:0022149,GARD:0022182,Rare genetic disease +GARD:0022181,GARD:0022531,GARD:0022149,GARD:0016875,Rare genetic disease +GARD:0022182,GARD:0022531,GARD:0022181,GARD:0012299,Rare genetic disease +GARD:0022182,GARD:0022531,GARD:0022181,GARD:0022184,Rare genetic disease +GARD:0022182,GARD:0022531,GARD:0022181,GARD:0004680,Rare genetic disease +GARD:0022182,GARD:0022531,GARD:0022181,GARD:0022183,Rare genetic disease +GARD:0022182,GARD:0022531,GARD:0022181,GARD:0018916,Rare genetic disease +GARD:0022182,GARD:0022531,GARD:0022181,GARD:0017104,Rare genetic disease +GARD:0022182,GARD:0022531,GARD:0022181,GARD:0019539,Rare genetic disease +GARD:0022183,GARD:0022531,GARD:0022182,GARD:0019369,Rare genetic disease +GARD:0022183,GARD:0022531,GARD:0022182,GARD:0001436,Rare genetic disease +GARD:0022184,GARD:0022531,GARD:0022182,GARD:0001049,Rare genetic disease +GARD:0022184,GARD:0022531,GARD:0022182,GARD:0012868,Rare genetic disease +GARD:0022184,GARD:0022531,GARD:0022182,GARD:0018908,Rare genetic disease +GARD:0022184,GARD:0022531,GARD:0022182,GARD:0021530,Rare genetic disease +GARD:0022184,GARD:0022531,GARD:0022182,GARD:0017497,Rare genetic disease +GARD:0022184,GARD:0022531,GARD:0022182,GARD:0006121,Rare genetic disease +GARD:0022184,GARD:0022531,GARD:0022182,GARD:0007713,Rare genetic disease +GARD:0022184,GARD:0022531,GARD:0022182,GARD:0001217,Rare genetic disease +GARD:0022184,GARD:0022531,GARD:0022182,GARD:0001613,Rare genetic disease +GARD:0022184,GARD:0022531,GARD:0022182,GARD:0012779,Rare genetic disease +GARD:0022184,GARD:0022531,GARD:0022182,GARD:0006309,Rare genetic disease +GARD:0022184,GARD:0022531,GARD:0022182,GARD:0017945,Rare genetic disease +GARD:0022184,GARD:0022531,GARD:0022182,GARD:0017412,Rare genetic disease +GARD:0022184,GARD:0022531,GARD:0022182,GARD:0022320,Rare genetic disease +GARD:0022185,GARD:0022531,GARD:0022149,GARD:0002486,Rare genetic disease +GARD:0022185,GARD:0022531,GARD:0022149,GARD:0022453,Rare genetic disease +GARD:0022185,GARD:0022531,GARD:0022149,GARD:0017422,Rare genetic disease +GARD:0022185,GARD:0022531,GARD:0022149,GARD:0019548,Rare genetic disease +GARD:0022186,GARD:0022531,GARD:0002486,GARD:0019524,Rare genetic disease +GARD:0022186,GARD:0022531,GARD:0002486,GARD:0022189,Rare genetic disease +GARD:0022187,GARD:0022531,GARD:0022181,GARD:0022096,Rare genetic disease +GARD:0022187,GARD:0022531,GARD:0022181,GARD:0022106,Rare genetic disease +GARD:0022187,GARD:0022531,GARD:0022181,GARD:0010300,Rare genetic disease +GARD:0022188,GARD:0022520,GARD:0022110,GARD:0022111,Rare ophthalmic disorder +GARD:0022188,GARD:0022520,GARD:0022110,GARD:0016490,Rare ophthalmic disorder +GARD:0022189,GARD:0022531,GARD:0022186,GARD:0016484,Rare genetic disease +GARD:0022189,GARD:0022531,GARD:0020298,GARD:0016882,Rare genetic disease +GARD:0022189,GARD:0022531,GARD:0022186,GARD:0006121,Rare genetic disease +GARD:0022189,GARD:0022531,GARD:0020298,GARD:0004690,Rare genetic disease +GARD:0022189,GARD:0022531,GARD:0020298,GARD:0010942,Rare genetic disease +GARD:0022189,GARD:0022531,GARD:0020298,GARD:0016484,Rare genetic disease +GARD:0022189,GARD:0022531,GARD:0022186,GARD:0016637,Rare genetic disease +GARD:0022189,GARD:0022531,GARD:0020298,GARD:0006121,Rare genetic disease +GARD:0022189,GARD:0022531,GARD:0022186,GARD:0000060,Rare genetic disease +GARD:0022189,GARD:0022531,GARD:0020298,GARD:0000060,Rare genetic disease +GARD:0022189,GARD:0022531,GARD:0020298,GARD:0016637,Rare genetic disease +GARD:0022189,GARD:0022531,GARD:0022186,GARD:0010942,Rare genetic disease +GARD:0022189,GARD:0022531,GARD:0022186,GARD:0016882,Rare genetic disease +GARD:0022189,GARD:0022531,GARD:0022186,GARD:0004690,Rare genetic disease +GARD:0022190,GARD:0022521,GARD:0020222,,Rare endocrine disease +GARD:0022191,GARD:0022521,GARD:0020218,,Rare endocrine disease +GARD:0022191,GARD:0022524,GARD:0019389,,Rare neurologic disease +GARD:0022192,GARD:0022531,GARD:0018890,GARD:0017881,Rare genetic disease +GARD:0022192,GARD:0022531,GARD:0022440,GARD:0017881,Rare genetic disease +GARD:0022192,GARD:0022531,GARD:0018771,GARD:0017509,Rare genetic disease +GARD:0022192,GARD:0022531,GARD:0020382,GARD:0017881,Rare genetic disease +GARD:0022192,GARD:0022531,GARD:0018771,GARD:0017881,Rare genetic disease +GARD:0022192,GARD:0022524,GARD:0020382,GARD:0017881,Rare neurologic disease +GARD:0022192,GARD:0022531,GARD:0020382,GARD:0017509,Rare genetic disease +GARD:0022192,GARD:0022524,GARD:0020382,GARD:0017509,Rare neurologic disease +GARD:0022192,GARD:0022508,GARD:0018771,GARD:0017509,Rare inborn errors of metabolism +GARD:0022192,GARD:0022524,GARD:0018890,GARD:0017881,Rare neurologic disease +GARD:0022192,GARD:0022531,GARD:0022440,GARD:0017509,Rare genetic disease +GARD:0022192,GARD:0022531,GARD:0018890,GARD:0017509,Rare genetic disease +GARD:0022192,GARD:0022524,GARD:0018890,GARD:0017509,Rare neurologic disease +GARD:0022192,GARD:0022524,GARD:0022440,GARD:0017509,Rare neurologic disease +GARD:0022192,GARD:0022508,GARD:0018771,GARD:0017881,Rare inborn errors of metabolism +GARD:0022192,GARD:0022524,GARD:0022440,GARD:0017881,Rare neurologic disease +GARD:0022193,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0022193,GARD:0022534,GARD:0019860,,Rare abdominal surgical disease +GARD:0022193,GARD:0022513,GARD:0019862,,Rare developmental defect during embryogenesis +GARD:0022193,GARD:0022513,GARD:0019864,,Rare developmental defect during embryogenesis +GARD:0022193,GARD:0022531,GARD:0019860,,Rare genetic disease +GARD:0022193,GARD:0022531,GARD:0019862,,Rare genetic disease +GARD:0022193,GARD:0022513,GARD:0019860,,Rare developmental defect during embryogenesis +GARD:0022193,GARD:0022534,GARD:0019864,,Rare abdominal surgical disease +GARD:0022193,GARD:0022534,GARD:0019862,,Rare abdominal surgical disease +GARD:0022193,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0022193,GARD:0022536,GARD:0019860,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022193,GARD:0022518,GARD:0020212,,Rare surgical thoracic disease +GARD:0022194,GARD:0022530,GARD:0005979,GARD:0016933,Rare allergic disease +GARD:0022194,GARD:0022531,GARD:0020685,GARD:0016933,Rare genetic disease +GARD:0022194,GARD:0022531,GARD:0005979,GARD:0016934,Rare genetic disease +GARD:0022194,GARD:0022525,GARD:0005979,GARD:0016934,Rare systemic or rheumatologic disease +GARD:0022194,GARD:0022531,GARD:0005979,GARD:0016933,Rare genetic disease +GARD:0022194,GARD:0022530,GARD:0005979,GARD:0016934,Rare allergic disease +GARD:0022194,GARD:0022525,GARD:0005979,GARD:0016933,Rare systemic or rheumatologic disease +GARD:0022194,GARD:0022531,GARD:0020685,GARD:0016934,Rare genetic disease +GARD:0022195,GARD:0022530,GARD:0005979,GARD:0016935,Rare allergic disease +GARD:0022195,GARD:0022525,GARD:0005979,GARD:0022217,Rare systemic or rheumatologic disease +GARD:0022195,GARD:0022531,GARD:0005979,GARD:0016935,Rare genetic disease +GARD:0022195,GARD:0022531,GARD:0005979,GARD:0022217,Rare genetic disease +GARD:0022195,GARD:0022531,GARD:0005979,GARD:0022406,Rare genetic disease +GARD:0022195,GARD:0022525,GARD:0005979,GARD:0022406,Rare systemic or rheumatologic disease +GARD:0022195,GARD:0022525,GARD:0005979,GARD:0016935,Rare systemic or rheumatologic disease +GARD:0022195,GARD:0022530,GARD:0005979,GARD:0022217,Rare allergic disease +GARD:0022195,GARD:0022530,GARD:0005979,GARD:0022406,Rare allergic disease +GARD:0022196,GARD:0022525,GARD:0008605,GARD:0019748,Rare systemic or rheumatologic disease +GARD:0022196,GARD:0022530,GARD:0008605,GARD:0019747,Rare allergic disease +GARD:0022196,GARD:0022530,GARD:0008605,GARD:0019748,Rare allergic disease +GARD:0022196,GARD:0022525,GARD:0008605,GARD:0019747,Rare systemic or rheumatologic disease +GARD:0022197,GARD:0022524,GARD:0006830,,Rare neurologic disease +GARD:0022197,GARD:0022508,GARD:0006830,,Rare inborn errors of metabolism +GARD:0022198,GARD:0022508,GARD:0006830,,Rare inborn errors of metabolism +GARD:0022198,GARD:0022524,GARD:0006830,,Rare neurologic disease +GARD:0022199,GARD:0022533,GARD:0021258,,Rare disorder due to toxic effects +GARD:0022200,GARD:0022506,GARD:0021786,,Rare hepatic disease +GARD:0022200,GARD:0022535,GARD:0021786,,Rare neoplastic disease +GARD:0022200,GARD:0022535,GARD:0018850,,Rare neoplastic disease +GARD:0022200,GARD:0022506,GARD:0018850,,Rare hepatic disease +GARD:0022200,GARD:0022536,GARD:0018850,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022200,GARD:0022536,GARD:0021786,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022201,GARD:0022524,GARD:0022524,,Rare neurologic disease +GARD:0022202,GARD:0022513,GARD:0020836,,Rare developmental defect during embryogenesis +GARD:0022202,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022202,GARD:0022531,GARD:0020836,,Rare genetic disease +GARD:0022202,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022202,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022203,GARD:0022531,GARD:0020117,GARD:0018000,Rare genetic disease +GARD:0022203,GARD:0022536,GARD:0019849,GARD:0013016,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022203,GARD:0022523,GARD:0020117,GARD:0013016,Rare immune disease +GARD:0022203,GARD:0022531,GARD:0020060,GARD:0022204,Rare genetic disease +GARD:0022203,GARD:0022531,GARD:0020060,GARD:0013016,Rare genetic disease +GARD:0022203,GARD:0022523,GARD:0020117,GARD:0022204,Rare immune disease +GARD:0022203,GARD:0022531,GARD:0020060,GARD:0022205,Rare genetic disease +GARD:0022203,GARD:0022531,GARD:0020117,GARD:0022204,Rare genetic disease +GARD:0022203,GARD:0022536,GARD:0019849,GARD:0022205,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022203,GARD:0022523,GARD:0020117,GARD:0022205,Rare immune disease +GARD:0022203,GARD:0022536,GARD:0019849,GARD:0018000,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022203,GARD:0022516,GARD:0019849,GARD:0022204,Rare gastroenterologic disease +GARD:0022203,GARD:0022531,GARD:0020117,GARD:0013016,Rare genetic disease +GARD:0022203,GARD:0022516,GARD:0019849,GARD:0018000,Rare gastroenterologic disease +GARD:0022203,GARD:0022516,GARD:0019849,GARD:0022205,Rare gastroenterologic disease +GARD:0022203,GARD:0022531,GARD:0020060,GARD:0018000,Rare genetic disease +GARD:0022203,GARD:0022536,GARD:0019849,GARD:0022204,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022203,GARD:0022531,GARD:0020117,GARD:0022205,Rare genetic disease +GARD:0022203,GARD:0022516,GARD:0019849,GARD:0013016,Rare gastroenterologic disease +GARD:0022203,GARD:0022523,GARD:0020117,GARD:0018000,Rare immune disease +GARD:0022204,GARD:0022525,GARD:0020257,,Rare systemic or rheumatologic disease +GARD:0022204,GARD:0022531,GARD:0021018,,Rare genetic disease +GARD:0022204,GARD:0022516,GARD:0022203,,Rare gastroenterologic disease +GARD:0022204,GARD:0022536,GARD:0022203,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022204,GARD:0022531,GARD:0022203,,Rare genetic disease +GARD:0022204,GARD:0022523,GARD:0022203,,Rare immune disease +GARD:0022205,GARD:0022516,GARD:0022203,,Rare gastroenterologic disease +GARD:0022205,GARD:0022536,GARD:0022203,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022205,GARD:0022523,GARD:0022203,,Rare immune disease +GARD:0022205,GARD:0022531,GARD:0022203,,Rare genetic disease +GARD:0022206,GARD:0022524,GARD:0020988,,Rare neurologic disease +GARD:0022206,GARD:0022531,GARD:0021003,,Rare genetic disease +GARD:0022206,GARD:0022513,GARD:0020988,,Rare developmental defect during embryogenesis +GARD:0022207,GARD:0022531,GARD:0010037,,Rare genetic disease +GARD:0022207,GARD:0022524,GARD:0010037,,Rare neurologic disease +GARD:0022208,GARD:0022531,GARD:0010037,,Rare genetic disease +GARD:0022208,GARD:0022524,GARD:0010037,,Rare neurologic disease +GARD:0022209,GARD:0022513,GARD:0019213,GARD:0021229,Rare developmental defect during embryogenesis +GARD:0022209,GARD:0022531,GARD:0019213,GARD:0002637,Rare genetic disease +GARD:0022209,GARD:0022513,GARD:0019213,GARD:0021051,Rare developmental defect during embryogenesis +GARD:0022209,GARD:0022513,GARD:0019213,GARD:0021227,Rare developmental defect during embryogenesis +GARD:0022209,GARD:0022513,GARD:0019213,GARD:0021384,Rare developmental defect during embryogenesis +GARD:0022209,GARD:0022531,GARD:0019213,GARD:0010939,Rare genetic disease +GARD:0022209,GARD:0022531,GARD:0019213,GARD:0022333,Rare genetic disease +GARD:0022209,GARD:0022531,GARD:0019213,GARD:0021384,Rare genetic disease +GARD:0022209,GARD:0022531,GARD:0019213,GARD:0021229,Rare genetic disease +GARD:0022209,GARD:0022531,GARD:0019213,GARD:0021051,Rare genetic disease +GARD:0022209,GARD:0022513,GARD:0019213,GARD:0002637,Rare developmental defect during embryogenesis +GARD:0022209,GARD:0022513,GARD:0019213,GARD:0006950,Rare developmental defect during embryogenesis +GARD:0022209,GARD:0022531,GARD:0019213,GARD:0021227,Rare genetic disease +GARD:0022209,GARD:0022513,GARD:0019213,GARD:0010939,Rare developmental defect during embryogenesis +GARD:0022209,GARD:0022531,GARD:0019213,GARD:0006950,Rare genetic disease +GARD:0022209,GARD:0022513,GARD:0019213,GARD:0022333,Rare developmental defect during embryogenesis +GARD:0022210,GARD:0022524,GARD:0016527,,Rare neurologic disease +GARD:0022210,GARD:0022535,GARD:0016527,,Rare neoplastic disease +GARD:0022211,GARD:0022524,GARD:0019832,GARD:0017414,Rare neurologic disease +GARD:0022211,GARD:0022524,GARD:0019832,GARD:0017415,Rare neurologic disease +GARD:0022211,GARD:0022513,GARD:0019832,GARD:0017415,Rare developmental defect during embryogenesis +GARD:0022211,GARD:0022513,GARD:0019832,GARD:0017414,Rare developmental defect during embryogenesis +GARD:0022211,GARD:0022531,GARD:0022441,GARD:0017414,Rare genetic disease +GARD:0022211,GARD:0022531,GARD:0022441,GARD:0017415,Rare genetic disease +GARD:0022212,GARD:0022531,GARD:0020829,,Rare genetic disease +GARD:0022212,GARD:0022513,GARD:0020829,,Rare developmental defect during embryogenesis +GARD:0022212,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022212,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022213,GARD:0022531,GARD:0022531,GARD:0007866,Rare genetic disease +GARD:0022213,GARD:0022531,GARD:0022531,GARD:0019561,Rare genetic disease +GARD:0022213,GARD:0022531,GARD:0022531,GARD:0011904,Rare genetic disease +GARD:0022213,GARD:0022531,GARD:0022531,GARD:0010714,Rare genetic disease +GARD:0022214,GARD:0022513,GARD:0006322,GARD:0009991,Rare developmental defect during embryogenesis +GARD:0022214,GARD:0022525,GARD:0006322,GARD:0017974,Rare systemic or rheumatologic disease +GARD:0022214,GARD:0022510,GARD:0006322,GARD:0009991,Rare skin disease +GARD:0022214,GARD:0022531,GARD:0006322,GARD:0009991,Rare genetic disease +GARD:0022214,GARD:0022525,GARD:0006322,GARD:0012610,Rare systemic or rheumatologic disease +GARD:0022214,GARD:0022531,GARD:0006322,GARD:0012610,Rare genetic disease +GARD:0022214,GARD:0022510,GARD:0006322,GARD:0012610,Rare skin disease +GARD:0022214,GARD:0022513,GARD:0006322,GARD:0017974,Rare developmental defect during embryogenesis +GARD:0022214,GARD:0022510,GARD:0006322,GARD:0017974,Rare skin disease +GARD:0022214,GARD:0022513,GARD:0006322,GARD:0012610,Rare developmental defect during embryogenesis +GARD:0022214,GARD:0022525,GARD:0006322,GARD:0009991,Rare systemic or rheumatologic disease +GARD:0022214,GARD:0022531,GARD:0006322,GARD:0017974,Rare genetic disease +GARD:0022215,GARD:0022524,GARD:0009138,,Rare neurologic disease +GARD:0022215,GARD:0022510,GARD:0006322,,Rare skin disease +GARD:0022215,GARD:0022531,GARD:0009138,,Rare genetic disease +GARD:0022215,GARD:0022513,GARD:0006322,,Rare developmental defect during embryogenesis +GARD:0022215,GARD:0022531,GARD:0006322,,Rare genetic disease +GARD:0022215,GARD:0022525,GARD:0006322,,Rare systemic or rheumatologic disease +GARD:0022216,GARD:0022531,GARD:0022094,,Rare genetic disease +GARD:0022216,GARD:0022513,GARD:0002083,,Rare developmental defect during embryogenesis +GARD:0022216,GARD:0022520,GARD:0022094,,Rare ophthalmic disorder +GARD:0022216,GARD:0022525,GARD:0002083,,Rare systemic or rheumatologic disease +GARD:0022216,GARD:0022531,GARD:0002083,,Rare genetic disease +GARD:0022216,GARD:0022510,GARD:0002083,,Rare skin disease +GARD:0022217,GARD:0022525,GARD:0022195,,Rare systemic or rheumatologic disease +GARD:0022217,GARD:0022530,GARD:0022195,,Rare allergic disease +GARD:0022217,GARD:0022531,GARD:0022195,,Rare genetic disease +GARD:0022218,GARD:0022531,GARD:0012449,,Rare genetic disease +GARD:0022218,GARD:0022524,GARD:0012449,,Rare neurologic disease +GARD:0022219,GARD:0022531,GARD:0019568,GARD:0017565,Rare genetic disease +GARD:0022219,GARD:0022531,GARD:0019568,GARD:0017880,Rare genetic disease +GARD:0022220,GARD:0022510,GARD:0007510,,Rare skin disease +GARD:0022220,GARD:0022525,GARD:0007510,,Rare systemic or rheumatologic disease +GARD:0022221,GARD:0022510,GARD:0007510,,Rare skin disease +GARD:0022221,GARD:0022525,GARD:0007510,,Rare systemic or rheumatologic disease +GARD:0022222,GARD:0022525,GARD:0007510,,Rare systemic or rheumatologic disease +GARD:0022222,GARD:0022510,GARD:0007510,,Rare skin disease +GARD:0022223,GARD:0022525,GARD:0007510,,Rare systemic or rheumatologic disease +GARD:0022223,GARD:0022510,GARD:0007510,,Rare skin disease +GARD:0022224,GARD:0022519,GARD:0022226,,Rare surgical cardiac disease +GARD:0022224,GARD:0022513,GARD:0022226,,Rare developmental defect during embryogenesis +GARD:0022225,GARD:0022519,GARD:0022226,,Rare surgical cardiac disease +GARD:0022225,GARD:0022513,GARD:0022226,,Rare developmental defect during embryogenesis +GARD:0022226,GARD:0022519,GARD:0001534,GARD:0022225,Rare surgical cardiac disease +GARD:0022226,GARD:0022513,GARD:0001534,GARD:0022225,Rare developmental defect during embryogenesis +GARD:0022226,GARD:0022519,GARD:0001534,GARD:0022224,Rare surgical cardiac disease +GARD:0022226,GARD:0022513,GARD:0001534,GARD:0022224,Rare developmental defect during embryogenesis +GARD:0022227,GARD:0022513,GARD:0001534,,Rare developmental defect during embryogenesis +GARD:0022227,GARD:0022519,GARD:0001534,,Rare surgical cardiac disease +GARD:0022228,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0022229,GARD:0022513,GARD:0019552,,Rare developmental defect during embryogenesis +GARD:0022229,GARD:0022519,GARD:0019552,,Rare surgical cardiac disease +GARD:0022229,GARD:0022527,GARD:0019552,,Rare circulatory system disease +GARD:0022230,GARD:0022513,GARD:0001534,GARD:0019644,Rare developmental defect during embryogenesis +GARD:0022230,GARD:0022519,GARD:0001534,GARD:0019643,Rare surgical cardiac disease +GARD:0022230,GARD:0022519,GARD:0001534,GARD:0019644,Rare surgical cardiac disease +GARD:0022230,GARD:0022519,GARD:0001534,GARD:0019645,Rare surgical cardiac disease +GARD:0022230,GARD:0022513,GARD:0001534,GARD:0019643,Rare developmental defect during embryogenesis +GARD:0022230,GARD:0022513,GARD:0001534,GARD:0019645,Rare developmental defect during embryogenesis +GARD:0022231,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0022231,GARD:0022531,GARD:0021845,,Rare genetic disease +GARD:0022231,GARD:0022531,GARD:0021322,,Rare genetic disease +GARD:0022231,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022231,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0022231,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0022231,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0022231,GARD:0022508,GARD:0021322,,Rare inborn errors of metabolism +GARD:0022231,GARD:0022531,GARD:0020382,,Rare genetic disease +GARD:0022231,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022231,GARD:0022524,GARD:0020382,,Rare neurologic disease +GARD:0022231,GARD:0022520,GARD:0021845,,Rare ophthalmic disorder +GARD:0022231,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0022232,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022232,GARD:0022524,GARD:0019436,,Rare neurologic disease +GARD:0022232,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022232,GARD:0022531,GARD:0019436,,Rare genetic disease +GARD:0022233,GARD:0022512,GARD:0019227,GARD:0008702,Rare renal disease +GARD:0022233,GARD:0022536,GARD:0022061,GARD:0017543,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022233,GARD:0022512,GARD:0019227,GARD:0017543,Rare renal disease +GARD:0022233,GARD:0022512,GARD:0019227,GARD:0012128,Rare renal disease +GARD:0022233,GARD:0022536,GARD:0022061,GARD:0022234,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022233,GARD:0022536,GARD:0022061,GARD:0012128,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022233,GARD:0022536,GARD:0022061,GARD:0008702,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022233,GARD:0022512,GARD:0019227,GARD:0022234,Rare renal disease +GARD:0022234,GARD:0022522,GARD:0020236,GARD:0006588,Rare hematologic disease +GARD:0022234,GARD:0022536,GARD:0022233,GARD:0022235,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022234,GARD:0022512,GARD:0022233,GARD:0006588,Rare renal disease +GARD:0022234,GARD:0022512,GARD:0022233,GARD:0022235,Rare renal disease +GARD:0022234,GARD:0022522,GARD:0020236,GARD:0022235,Rare hematologic disease +GARD:0022234,GARD:0022536,GARD:0022233,GARD:0006588,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022235,GARD:0022536,GARD:0022234,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022235,GARD:0022522,GARD:0022234,,Rare hematologic disease +GARD:0022235,GARD:0022512,GARD:0022234,,Rare renal disease +GARD:0022236,GARD:0022532,GARD:0018700,,Rare urogenital disease +GARD:0022236,GARD:0022512,GARD:0018700,,Rare renal disease +GARD:0022236,GARD:0022536,GARD:0018700,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022236,GARD:0022513,GARD:0018700,,Rare developmental defect during embryogenesis +GARD:0022236,GARD:0022531,GARD:0018700,,Rare genetic disease +GARD:0022237,GARD:0022531,GARD:0020304,GARD:0005785,Rare genetic disease +GARD:0022237,GARD:0022531,GARD:0020304,GARD:0010889,Rare genetic disease +GARD:0022237,GARD:0022536,GARD:0012736,GARD:0010889,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022237,GARD:0022512,GARD:0012736,GARD:0010889,Rare renal disease +GARD:0022237,GARD:0022536,GARD:0012736,GARD:0005785,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022237,GARD:0022512,GARD:0012736,GARD:0005785,Rare renal disease +GARD:0022238,GARD:0022521,GARD:0020216,,Rare endocrine disease +GARD:0022238,GARD:0022531,GARD:0020312,,Rare genetic disease +GARD:0022238,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022238,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0022238,GARD:0022531,GARD:0021053,,Rare genetic disease +GARD:0022238,GARD:0022521,GARD:0021053,,Rare endocrine disease +GARD:0022238,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0022239,GARD:0022506,GARD:0019098,,Rare hepatic disease +GARD:0022240,GARD:0022525,GARD:0012521,,Rare systemic or rheumatologic disease +GARD:0022240,GARD:0022506,GARD:0019098,,Rare hepatic disease +GARD:0022241,GARD:0022519,GARD:0019555,,Rare surgical cardiac disease +GARD:0022241,GARD:0022513,GARD:0019555,,Rare developmental defect during embryogenesis +GARD:0022242,GARD:0022510,GARD:0019028,,Rare skin disease +GARD:0022243,GARD:0022531,GARD:0016532,,Rare genetic disease +GARD:0022243,GARD:0022521,GARD:0016532,,Rare endocrine disease +GARD:0022244,GARD:0022521,GARD:0016532,,Rare endocrine disease +GARD:0022244,GARD:0022531,GARD:0016532,,Rare genetic disease +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0021264,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0018856,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0019115,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0021503,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0022311,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0020653,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0018805,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0007021,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0018806,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0018804,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0009299,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0020566,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0018817,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0021266,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0021881,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0021939,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0021265,Rare disorder due to toxic effects +GARD:0022245,GARD:0022533,GARD:0022533,GARD:0019116,Rare disorder due to toxic effects +GARD:0022246,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0022246,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0022246,GARD:0022511,GARD:0004155,,Rare bone disease +GARD:0022246,GARD:0022513,GARD:0004155,,Rare developmental defect during embryogenesis +GARD:0022246,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0022246,GARD:0022536,GARD:0004155,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022246,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0022246,GARD:0022531,GARD:0004155,,Rare genetic disease +GARD:0022247,GARD:0022508,GARD:0021156,,Rare inborn errors of metabolism +GARD:0022247,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0022247,GARD:0022531,GARD:0021403,,Rare genetic disease +GARD:0022247,GARD:0022531,GARD:0021156,,Rare genetic disease +GARD:0022247,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0022247,GARD:0022524,GARD:0021403,,Rare neurologic disease +GARD:0022248,GARD:0022513,GARD:0019860,GARD:0009673,Rare developmental defect during embryogenesis +GARD:0022248,GARD:0022536,GARD:0019860,GARD:0002700,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022248,GARD:0022536,GARD:0019860,GARD:0017004,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022248,GARD:0022534,GARD:0019860,GARD:0005524,Rare abdominal surgical disease +GARD:0022248,GARD:0022534,GARD:0019860,GARD:0002700,Rare abdominal surgical disease +GARD:0022248,GARD:0022531,GARD:0019860,GARD:0006866,Rare genetic disease +GARD:0022248,GARD:0022534,GARD:0019860,GARD:0016909,Rare abdominal surgical disease +GARD:0022248,GARD:0022531,GARD:0019860,GARD:0000157,Rare genetic disease +GARD:0022248,GARD:0022513,GARD:0019860,GARD:0000584,Rare developmental defect during embryogenesis +GARD:0022248,GARD:0022531,GARD:0019860,GARD:0002700,Rare genetic disease +GARD:0022248,GARD:0022531,GARD:0019860,GARD:0017004,Rare genetic disease +GARD:0022248,GARD:0022534,GARD:0019860,GARD:0017004,Rare abdominal surgical disease +GARD:0022248,GARD:0022513,GARD:0019860,GARD:0017004,Rare developmental defect during embryogenesis +GARD:0022248,GARD:0022531,GARD:0019860,GARD:0009673,Rare genetic disease +GARD:0022248,GARD:0022513,GARD:0019860,GARD:0006866,Rare developmental defect during embryogenesis +GARD:0022248,GARD:0022531,GARD:0019860,GARD:0016909,Rare genetic disease +GARD:0022248,GARD:0022534,GARD:0019860,GARD:0000584,Rare abdominal surgical disease +GARD:0022248,GARD:0022531,GARD:0019860,GARD:0005524,Rare genetic disease +GARD:0022248,GARD:0022513,GARD:0019860,GARD:0009849,Rare developmental defect during embryogenesis +GARD:0022248,GARD:0022513,GARD:0019860,GARD:0016909,Rare developmental defect during embryogenesis +GARD:0022248,GARD:0022531,GARD:0019860,GARD:0000584,Rare genetic disease +GARD:0022248,GARD:0022536,GARD:0019860,GARD:0000584,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022248,GARD:0022536,GARD:0019860,GARD:0006866,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022248,GARD:0022536,GARD:0019860,GARD:0005524,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022248,GARD:0022531,GARD:0019860,GARD:0009849,Rare genetic disease +GARD:0022248,GARD:0022536,GARD:0019860,GARD:0000157,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022248,GARD:0022513,GARD:0019860,GARD:0000157,Rare developmental defect during embryogenesis +GARD:0022248,GARD:0022513,GARD:0019860,GARD:0005524,Rare developmental defect during embryogenesis +GARD:0022248,GARD:0022534,GARD:0019860,GARD:0006866,Rare abdominal surgical disease +GARD:0022248,GARD:0022513,GARD:0019860,GARD:0002700,Rare developmental defect during embryogenesis +GARD:0022248,GARD:0022534,GARD:0019860,GARD:0000157,Rare abdominal surgical disease +GARD:0022248,GARD:0022534,GARD:0019860,GARD:0009673,Rare abdominal surgical disease +GARD:0022248,GARD:0022536,GARD:0019860,GARD:0009849,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022248,GARD:0022534,GARD:0019860,GARD:0009849,Rare abdominal surgical disease +GARD:0022248,GARD:0022536,GARD:0019860,GARD:0016909,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022248,GARD:0022536,GARD:0019860,GARD:0009673,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022249,GARD:0022516,GARD:0019786,,Rare gastroenterologic disease +GARD:0022250,GARD:0022536,GARD:0022060,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022250,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0022250,GARD:0022506,GARD:0019789,,Rare hepatic disease +GARD:0022251,GARD:0022536,GARD:0005871,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022251,GARD:0022506,GARD:0005871,,Rare hepatic disease +GARD:0022252,GARD:0022536,GARD:0005871,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022252,GARD:0022506,GARD:0005871,,Rare hepatic disease +GARD:0022253,GARD:0022506,GARD:0005871,,Rare hepatic disease +GARD:0022253,GARD:0022536,GARD:0005871,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022254,GARD:0022524,GARD:0005808,,Rare neurologic disease +GARD:0022254,GARD:0022513,GARD:0005808,,Rare developmental defect during embryogenesis +GARD:0022255,GARD:0022513,GARD:0005808,,Rare developmental defect during embryogenesis +GARD:0022255,GARD:0022524,GARD:0005808,,Rare neurologic disease +GARD:0022256,GARD:0022514,GARD:0020346,,Rare gynecologic or obstetric disease +GARD:0022256,GARD:0022535,GARD:0020346,,Rare neoplastic disease +GARD:0022257,GARD:0022514,GARD:0020346,,Rare gynecologic or obstetric disease +GARD:0022257,GARD:0022535,GARD:0020346,,Rare neoplastic disease +GARD:0022258,GARD:0022514,GARD:0020346,,Rare gynecologic or obstetric disease +GARD:0022258,GARD:0022535,GARD:0020346,,Rare neoplastic disease +GARD:0022259,GARD:0022509,GARD:0002418,,Rare infectious disease +GARD:0022260,GARD:0022509,GARD:0002418,,Rare infectious disease +GARD:0022261,GARD:0022509,GARD:0002418,,Rare infectious disease +GARD:0022262,GARD:0022531,GARD:0021546,,Rare genetic disease +GARD:0022262,GARD:0022516,GARD:0019841,,Rare gastroenterologic disease +GARD:0022262,GARD:0022536,GARD:0019841,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022262,GARD:0022516,GARD:0018918,,Rare gastroenterologic disease +GARD:0022262,GARD:0022531,GARD:0019841,,Rare genetic disease +GARD:0022262,GARD:0022536,GARD:0018918,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022263,GARD:0022531,GARD:0016972,,Rare genetic disease +GARD:0022263,GARD:0022507,GARD:0016972,,Rare maxillo-facial surgical disease +GARD:0022263,GARD:0022513,GARD:0016972,,Rare developmental defect during embryogenesis +GARD:0022264,GARD:0022531,GARD:0016972,,Rare genetic disease +GARD:0022264,GARD:0022507,GARD:0016972,,Rare maxillo-facial surgical disease +GARD:0022264,GARD:0022513,GARD:0016972,,Rare developmental defect during embryogenesis +GARD:0022265,GARD:0022531,GARD:0020304,GARD:0003946,Rare genetic disease +GARD:0022265,GARD:0022536,GARD:0022294,GARD:0003946,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022265,GARD:0022531,GARD:0020304,GARD:0001500,Rare genetic disease +GARD:0022265,GARD:0022512,GARD:0022294,GARD:0003946,Rare renal disease +GARD:0022265,GARD:0022536,GARD:0022294,GARD:0001500,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022265,GARD:0022512,GARD:0022294,GARD:0001500,Rare renal disease +GARD:0022266,GARD:0022531,GARD:0021357,,Rare genetic disease +GARD:0022266,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0022266,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0022266,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0022266,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022266,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0022266,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022266,GARD:0022508,GARD:0021357,,Rare inborn errors of metabolism +GARD:0022267,GARD:0022524,GARD:0003262,,Rare neurologic disease +GARD:0022267,GARD:0022515,GARD:0022515,,Rare cardiac disease +GARD:0022267,GARD:0022536,GARD:0022065,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022267,GARD:0022508,GARD:0003262,,Rare inborn errors of metabolism +GARD:0022267,GARD:0022531,GARD:0003262,,Rare genetic disease +GARD:0022268,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0022269,GARD:0022533,GARD:0021258,,Rare disorder due to toxic effects +GARD:0022270,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0022270,GARD:0022531,GARD:0020396,,Rare genetic disease +GARD:0022270,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0022271,GARD:0022524,GARD:0019825,,Rare neurologic disease +GARD:0022271,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022271,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022271,GARD:0022524,GARD:0021603,,Rare neurologic disease +GARD:0022271,GARD:0022531,GARD:0021603,,Rare genetic disease +GARD:0022271,GARD:0022531,GARD:0019825,,Rare genetic disease +GARD:0022271,GARD:0022531,GARD:0020402,,Rare genetic disease +GARD:0022272,GARD:0022531,GARD:0020399,,Rare genetic disease +GARD:0022272,GARD:0022524,GARD:0019824,,Rare neurologic disease +GARD:0022272,GARD:0022531,GARD:0019824,,Rare genetic disease +GARD:0022273,GARD:0021079,GARD:0021453,,Rare systemic or rheumatological disease of childhood +GARD:0022273,GARD:0022523,GARD:0021161,,Rare immune disease +GARD:0022273,GARD:0022525,GARD:0021453,,Rare systemic or rheumatologic disease +GARD:0022273,GARD:0022531,GARD:0021161,,Rare genetic disease +GARD:0022273,GARD:0022531,GARD:0021453,,Rare genetic disease +GARD:0022274,GARD:0022522,GARD:0021968,,Rare hematologic disease +GARD:0022274,GARD:0022531,GARD:0021968,,Rare genetic disease +GARD:0022275,GARD:0022521,GARD:0022390,,Rare endocrine disease +GARD:0022275,GARD:0022531,GARD:0022390,,Rare genetic disease +GARD:0022276,GARD:0022522,GARD:0019598,,Rare hematologic disease +GARD:0022276,GARD:0022535,GARD:0019598,,Rare neoplastic disease +GARD:0022277,GARD:0022535,GARD:0019598,,Rare neoplastic disease +GARD:0022277,GARD:0022522,GARD:0019598,,Rare hematologic disease +GARD:0022278,GARD:0022536,GARD:0021257,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022278,GARD:0022535,GARD:0021257,,Rare neoplastic disease +GARD:0022278,GARD:0022506,GARD:0021257,,Rare hepatic disease +GARD:0022279,GARD:0022513,GARD:0020978,GARD:0022280,Rare developmental defect during embryogenesis +GARD:0022279,GARD:0022513,GARD:0021925,GARD:0022280,Rare developmental defect during embryogenesis +GARD:0022279,GARD:0022524,GARD:0020978,GARD:0022281,Rare neurologic disease +GARD:0022279,GARD:0022513,GARD:0020978,GARD:0022281,Rare developmental defect during embryogenesis +GARD:0022279,GARD:0022513,GARD:0021925,GARD:0022281,Rare developmental defect during embryogenesis +GARD:0022279,GARD:0022524,GARD:0020978,GARD:0022280,Rare neurologic disease +GARD:0022280,GARD:0022524,GARD:0022279,,Rare neurologic disease +GARD:0022280,GARD:0022513,GARD:0022279,,Rare developmental defect during embryogenesis +GARD:0022281,GARD:0022524,GARD:0022279,,Rare neurologic disease +GARD:0022281,GARD:0022513,GARD:0022279,,Rare developmental defect during embryogenesis +GARD:0022282,GARD:0022531,GARD:0021016,,Rare genetic disease +GARD:0022282,GARD:0022519,GARD:0010875,,Rare surgical cardiac disease +GARD:0022282,GARD:0022513,GARD:0010875,,Rare developmental defect during embryogenesis +GARD:0022283,GARD:0022525,GARD:0021657,,Rare systemic or rheumatologic disease +GARD:0022283,GARD:0022511,GARD:0021657,,Rare bone disease +GARD:0022284,GARD:0022511,GARD:0021188,,Rare bone disease +GARD:0022284,GARD:0022531,GARD:0021507,,Rare genetic disease +GARD:0022284,GARD:0022531,GARD:0021188,,Rare genetic disease +GARD:0022284,GARD:0022531,GARD:0020596,,Rare genetic disease +GARD:0022284,GARD:0022523,GARD:0020596,,Rare immune disease +GARD:0022284,GARD:0022513,GARD:0021188,,Rare developmental defect during embryogenesis +GARD:0022284,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0022284,GARD:0022513,GARD:0019833,,Rare developmental defect during embryogenesis +GARD:0022284,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0022284,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0022285,GARD:0022536,GARD:0012736,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022285,GARD:0022512,GARD:0012736,,Rare renal disease +GARD:0022286,GARD:0022536,GARD:0021539,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022286,GARD:0022512,GARD:0021539,,Rare renal disease +GARD:0022287,GARD:0022536,GARD:0018003,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022287,GARD:0022512,GARD:0018003,,Rare renal disease +GARD:0022288,GARD:0022536,GARD:0018003,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022288,GARD:0022512,GARD:0018003,,Rare renal disease +GARD:0022289,GARD:0022512,GARD:0012736,GARD:0022290,Rare renal disease +GARD:0022289,GARD:0022536,GARD:0012736,GARD:0022290,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022289,GARD:0022512,GARD:0012736,GARD:0022291,Rare renal disease +GARD:0022289,GARD:0022536,GARD:0012736,GARD:0022291,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022290,GARD:0022531,GARD:0020304,GARD:0008282,Rare genetic disease +GARD:0022290,GARD:0022512,GARD:0022289,GARD:0008282,Rare renal disease +GARD:0022290,GARD:0022536,GARD:0022289,GARD:0017762,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022290,GARD:0022512,GARD:0022289,GARD:0008472,Rare renal disease +GARD:0022290,GARD:0022531,GARD:0020304,GARD:0008472,Rare genetic disease +GARD:0022290,GARD:0022531,GARD:0020304,GARD:0017504,Rare genetic disease +GARD:0022290,GARD:0022512,GARD:0022289,GARD:0015019,Rare renal disease +GARD:0022290,GARD:0022536,GARD:0022289,GARD:0008282,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022290,GARD:0022531,GARD:0020304,GARD:0006421,Rare genetic disease +GARD:0022290,GARD:0022536,GARD:0022289,GARD:0006725,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022290,GARD:0022512,GARD:0022289,GARD:0017762,Rare renal disease +GARD:0022290,GARD:0022531,GARD:0020304,GARD:0017762,Rare genetic disease +GARD:0022290,GARD:0022536,GARD:0022289,GARD:0015019,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022290,GARD:0022536,GARD:0022289,GARD:0017504,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022290,GARD:0022536,GARD:0022289,GARD:0008472,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022290,GARD:0022512,GARD:0022289,GARD:0006725,Rare renal disease +GARD:0022290,GARD:0022512,GARD:0022289,GARD:0017504,Rare renal disease +GARD:0022290,GARD:0022531,GARD:0020304,GARD:0015019,Rare genetic disease +GARD:0022290,GARD:0022531,GARD:0020304,GARD:0006725,Rare genetic disease +GARD:0022290,GARD:0022512,GARD:0022289,GARD:0006421,Rare renal disease +GARD:0022290,GARD:0022536,GARD:0022289,GARD:0006421,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0004697,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0007607,Rare renal disease +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0000848,Rare renal disease +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0009748,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0010560,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0019073,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0006263,Rare renal disease +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0000436,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0005797,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0006805,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0007425,Rare renal disease +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0021882,Rare renal disease +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0012742,Rare renal disease +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0021847,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0007051,Rare renal disease +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0000436,Rare renal disease +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0019073,Rare renal disease +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0006805,Rare renal disease +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0021828,Rare renal disease +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0012742,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0012741,Rare renal disease +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0022292,Rare renal disease +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0007607,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0004697,Rare renal disease +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0021828,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0006263,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0010560,Rare renal disease +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0021882,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0009748,Rare renal disease +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0019048,Rare renal disease +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0022292,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0021847,Rare renal disease +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0000848,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0007051,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0012741,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022512,GARD:0022289,GARD:0005797,Rare renal disease +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0007425,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022291,GARD:0022536,GARD:0022289,GARD:0019048,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022292,GARD:0022536,GARD:0022291,GARD:0008204,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022292,GARD:0022512,GARD:0022291,GARD:0002551,Rare renal disease +GARD:0022292,GARD:0022536,GARD:0022291,GARD:0007730,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022292,GARD:0022512,GARD:0022291,GARD:0006386,Rare renal disease +GARD:0022292,GARD:0022512,GARD:0022291,GARD:0019219,Rare renal disease +GARD:0022292,GARD:0022512,GARD:0022291,GARD:0018695,Rare renal disease +GARD:0022292,GARD:0022512,GARD:0022291,GARD:0007730,Rare renal disease +GARD:0022292,GARD:0022512,GARD:0022291,GARD:0008204,Rare renal disease +GARD:0022292,GARD:0022512,GARD:0022291,GARD:0003652,Rare renal disease +GARD:0022292,GARD:0022512,GARD:0022291,GARD:0007360,Rare renal disease +GARD:0022292,GARD:0022536,GARD:0022291,GARD:0002551,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022292,GARD:0022512,GARD:0022291,GARD:0007880,Rare renal disease +GARD:0022292,GARD:0022512,GARD:0022291,GARD:0009615,Rare renal disease +GARD:0022292,GARD:0022512,GARD:0022291,GARD:0019175,Rare renal disease +GARD:0022292,GARD:0022512,GARD:0022291,GARD:0005969,Rare renal disease +GARD:0022292,GARD:0022536,GARD:0022291,GARD:0009615,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022292,GARD:0022536,GARD:0022291,GARD:0019219,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022292,GARD:0022536,GARD:0022291,GARD:0006386,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022292,GARD:0022536,GARD:0022291,GARD:0003652,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022292,GARD:0022512,GARD:0022291,GARD:0006111,Rare renal disease +GARD:0022292,GARD:0022536,GARD:0022291,GARD:0005969,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022292,GARD:0022536,GARD:0022291,GARD:0018695,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022292,GARD:0022536,GARD:0022291,GARD:0007360,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022292,GARD:0022536,GARD:0022291,GARD:0006111,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022292,GARD:0022536,GARD:0022291,GARD:0019175,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022292,GARD:0022512,GARD:0022291,GARD:0007417,Rare renal disease +GARD:0022292,GARD:0022536,GARD:0022291,GARD:0007880,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022292,GARD:0022536,GARD:0022291,GARD:0007417,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0017239,Rare renal disease +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0017377,Rare genetic disease +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0017377,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0000065,Rare genetic disease +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0013818,Rare renal disease +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0017000,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0004050,Rare genetic disease +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0002375,Rare renal disease +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0018896,Rare genetic disease +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0000180,Rare genetic disease +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0018896,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0012011,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0000065,Rare renal disease +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0017367,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0017377,Rare renal disease +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0007160,Rare renal disease +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0004050,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0004050,Rare renal disease +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0004984,Rare genetic disease +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0000321,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0017367,Rare genetic disease +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0012011,Rare renal disease +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0017295,Rare genetic disease +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0002375,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0017239,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0012827,Rare renal disease +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0004984,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0017295,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0013818,Rare genetic disease +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0000321,Rare renal disease +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0018896,Rare renal disease +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0004984,Rare renal disease +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0017367,Rare renal disease +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0009420,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0013818,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0000180,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0000180,Rare renal disease +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0012827,Rare genetic disease +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0005576,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0005576,Rare genetic disease +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0017295,Rare renal disease +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0017000,Rare genetic disease +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0007160,Rare genetic disease +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0000321,Rare genetic disease +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0017000,Rare renal disease +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0012011,Rare genetic disease +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0017239,Rare genetic disease +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0007160,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0000065,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022536,GARD:0012736,GARD:0012827,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0005576,Rare renal disease +GARD:0022293,GARD:0022512,GARD:0012736,GARD:0009420,Rare renal disease +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0009420,Rare genetic disease +GARD:0022293,GARD:0022531,GARD:0020304,GARD:0002375,Rare genetic disease +GARD:0022294,GARD:0022536,GARD:0012736,GARD:0021539,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022294,GARD:0022536,GARD:0012736,GARD:0022265,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022294,GARD:0022512,GARD:0012736,GARD:0021539,Rare renal disease +GARD:0022294,GARD:0022512,GARD:0012736,GARD:0022265,Rare renal disease +GARD:0022295,GARD:0022506,GARD:0019791,,Rare hepatic disease +GARD:0022296,GARD:0022531,GARD:0018932,GARD:0018769,Rare genetic disease +GARD:0022296,GARD:0022527,GARD:0018932,GARD:0018769,Rare circulatory system disease +GARD:0022296,GARD:0022513,GARD:0018932,GARD:0021153,Rare developmental defect during embryogenesis +GARD:0022296,GARD:0022527,GARD:0018932,GARD:0021153,Rare circulatory system disease +GARD:0022296,GARD:0022531,GARD:0018932,GARD:0021153,Rare genetic disease +GARD:0022296,GARD:0022510,GARD:0018932,GARD:0018769,Rare skin disease +GARD:0022296,GARD:0022510,GARD:0018932,GARD:0021153,Rare skin disease +GARD:0022296,GARD:0022513,GARD:0018932,GARD:0018769,Rare developmental defect during embryogenesis +GARD:0022297,GARD:0022527,GARD:0018932,GARD:0022302,Rare circulatory system disease +GARD:0022297,GARD:0022513,GARD:0018932,GARD:0022300,Rare developmental defect during embryogenesis +GARD:0022297,GARD:0022513,GARD:0018932,GARD:0000753,Rare developmental defect during embryogenesis +GARD:0022297,GARD:0022510,GARD:0018932,GARD:0000237,Rare skin disease +GARD:0022297,GARD:0022513,GARD:0018932,GARD:0012827,Rare developmental defect during embryogenesis +GARD:0022297,GARD:0022527,GARD:0018932,GARD:0000184,Rare circulatory system disease +GARD:0022297,GARD:0022510,GARD:0018932,GARD:0000753,Rare skin disease +GARD:0022297,GARD:0022510,GARD:0018932,GARD:0012827,Rare skin disease +GARD:0022297,GARD:0022531,GARD:0018932,GARD:0000753,Rare genetic disease +GARD:0022297,GARD:0022513,GARD:0018932,GARD:0000237,Rare developmental defect during embryogenesis +GARD:0022297,GARD:0022527,GARD:0018932,GARD:0022300,Rare circulatory system disease +GARD:0022297,GARD:0022527,GARD:0018932,GARD:0000753,Rare circulatory system disease +GARD:0022297,GARD:0022513,GARD:0018932,GARD:0000284,Rare developmental defect during embryogenesis +GARD:0022297,GARD:0022513,GARD:0018932,GARD:0003318,Rare developmental defect during embryogenesis +GARD:0022297,GARD:0022527,GARD:0018932,GARD:0022301,Rare circulatory system disease +GARD:0022297,GARD:0022531,GARD:0018932,GARD:0022302,Rare genetic disease +GARD:0022297,GARD:0022531,GARD:0018932,GARD:0000237,Rare genetic disease +GARD:0022297,GARD:0022527,GARD:0018932,GARD:0000237,Rare circulatory system disease +GARD:0022297,GARD:0022510,GARD:0018932,GARD:0022300,Rare skin disease +GARD:0022297,GARD:0022513,GARD:0018932,GARD:0022301,Rare developmental defect during embryogenesis +GARD:0022297,GARD:0022531,GARD:0018932,GARD:0000284,Rare genetic disease +GARD:0022297,GARD:0022510,GARD:0018932,GARD:0000184,Rare skin disease +GARD:0022297,GARD:0022510,GARD:0018932,GARD:0003318,Rare skin disease +GARD:0022297,GARD:0022510,GARD:0018932,GARD:0022301,Rare skin disease +GARD:0022297,GARD:0022513,GARD:0018932,GARD:0022302,Rare developmental defect during embryogenesis +GARD:0022297,GARD:0022531,GARD:0018932,GARD:0000184,Rare genetic disease +GARD:0022297,GARD:0022531,GARD:0018932,GARD:0022300,Rare genetic disease +GARD:0022297,GARD:0022510,GARD:0018932,GARD:0000284,Rare skin disease +GARD:0022297,GARD:0022531,GARD:0018932,GARD:0022301,Rare genetic disease +GARD:0022297,GARD:0022531,GARD:0018932,GARD:0012827,Rare genetic disease +GARD:0022297,GARD:0022527,GARD:0018932,GARD:0000284,Rare circulatory system disease +GARD:0022297,GARD:0022510,GARD:0018932,GARD:0022302,Rare skin disease +GARD:0022297,GARD:0022531,GARD:0018932,GARD:0003318,Rare genetic disease +GARD:0022297,GARD:0022513,GARD:0018932,GARD:0000184,Rare developmental defect during embryogenesis +GARD:0022297,GARD:0022527,GARD:0018932,GARD:0003318,Rare circulatory system disease +GARD:0022297,GARD:0022527,GARD:0018932,GARD:0012827,Rare circulatory system disease +GARD:0022298,GARD:0022531,GARD:0018932,GARD:0016911,Rare genetic disease +GARD:0022298,GARD:0022527,GARD:0018932,GARD:0005430,Rare circulatory system disease +GARD:0022298,GARD:0022510,GARD:0018932,GARD:0017884,Rare skin disease +GARD:0022298,GARD:0022513,GARD:0018932,GARD:0010955,Rare developmental defect during embryogenesis +GARD:0022298,GARD:0022527,GARD:0018932,GARD:0007831,Rare circulatory system disease +GARD:0022298,GARD:0022527,GARD:0018932,GARD:0017884,Rare circulatory system disease +GARD:0022298,GARD:0022513,GARD:0018932,GARD:0017884,Rare developmental defect during embryogenesis +GARD:0022298,GARD:0022510,GARD:0018932,GARD:0004264,Rare skin disease +GARD:0022298,GARD:0022531,GARD:0018932,GARD:0009146,Rare genetic disease +GARD:0022298,GARD:0022527,GARD:0018932,GARD:0006400,Rare circulatory system disease +GARD:0022298,GARD:0022531,GARD:0018932,GARD:0005430,Rare genetic disease +GARD:0022298,GARD:0022510,GARD:0018932,GARD:0007830,Rare skin disease +GARD:0022298,GARD:0022527,GARD:0018932,GARD:0016911,Rare circulatory system disease +GARD:0022298,GARD:0022531,GARD:0018932,GARD:0016681,Rare genetic disease +GARD:0022298,GARD:0022527,GARD:0018932,GARD:0007830,Rare circulatory system disease +GARD:0022298,GARD:0022527,GARD:0018932,GARD:0004264,Rare circulatory system disease +GARD:0022298,GARD:0022510,GARD:0018932,GARD:0007473,Rare skin disease +GARD:0022298,GARD:0022513,GARD:0018932,GARD:0009146,Rare developmental defect during embryogenesis +GARD:0022298,GARD:0022531,GARD:0018932,GARD:0007830,Rare genetic disease +GARD:0022298,GARD:0022531,GARD:0018932,GARD:0010130,Rare genetic disease +GARD:0022298,GARD:0022510,GARD:0018932,GARD:0010955,Rare skin disease +GARD:0022298,GARD:0022513,GARD:0018932,GARD:0007831,Rare developmental defect during embryogenesis +GARD:0022298,GARD:0022531,GARD:0018932,GARD:0007239,Rare genetic disease +GARD:0022298,GARD:0022510,GARD:0018932,GARD:0007831,Rare skin disease +GARD:0022298,GARD:0022513,GARD:0018932,GARD:0007239,Rare developmental defect during embryogenesis +GARD:0022298,GARD:0022510,GARD:0018932,GARD:0016911,Rare skin disease +GARD:0022298,GARD:0022513,GARD:0018932,GARD:0016681,Rare developmental defect during embryogenesis +GARD:0022298,GARD:0022513,GARD:0018932,GARD:0010130,Rare developmental defect during embryogenesis +GARD:0022298,GARD:0022510,GARD:0018932,GARD:0005430,Rare skin disease +GARD:0022298,GARD:0022510,GARD:0018932,GARD:0009146,Rare skin disease +GARD:0022298,GARD:0022531,GARD:0018932,GARD:0007831,Rare genetic disease +GARD:0022298,GARD:0022527,GARD:0018932,GARD:0010955,Rare circulatory system disease +GARD:0022298,GARD:0022531,GARD:0018932,GARD:0006400,Rare genetic disease +GARD:0022298,GARD:0022527,GARD:0018932,GARD:0016681,Rare circulatory system disease +GARD:0022298,GARD:0022527,GARD:0018932,GARD:0007239,Rare circulatory system disease +GARD:0022298,GARD:0022513,GARD:0018932,GARD:0007473,Rare developmental defect during embryogenesis +GARD:0022298,GARD:0022527,GARD:0018932,GARD:0009146,Rare circulatory system disease +GARD:0022298,GARD:0022510,GARD:0018932,GARD:0007239,Rare skin disease +GARD:0022298,GARD:0022531,GARD:0018932,GARD:0010955,Rare genetic disease +GARD:0022298,GARD:0022513,GARD:0018932,GARD:0007830,Rare developmental defect during embryogenesis +GARD:0022298,GARD:0022513,GARD:0018932,GARD:0005430,Rare developmental defect during embryogenesis +GARD:0022298,GARD:0022513,GARD:0018932,GARD:0006400,Rare developmental defect during embryogenesis +GARD:0022298,GARD:0022531,GARD:0018932,GARD:0004264,Rare genetic disease +GARD:0022298,GARD:0022510,GARD:0018932,GARD:0016681,Rare skin disease +GARD:0022298,GARD:0022531,GARD:0018932,GARD:0017884,Rare genetic disease +GARD:0022298,GARD:0022527,GARD:0018932,GARD:0010130,Rare circulatory system disease +GARD:0022298,GARD:0022513,GARD:0018932,GARD:0016911,Rare developmental defect during embryogenesis +GARD:0022298,GARD:0022510,GARD:0018932,GARD:0010130,Rare skin disease +GARD:0022298,GARD:0022531,GARD:0018932,GARD:0007473,Rare genetic disease +GARD:0022298,GARD:0022527,GARD:0018932,GARD:0007473,Rare circulatory system disease +GARD:0022298,GARD:0022510,GARD:0018932,GARD:0006400,Rare skin disease +GARD:0022298,GARD:0022513,GARD:0018932,GARD:0004264,Rare developmental defect during embryogenesis +GARD:0022299,GARD:0022510,GARD:0021153,,Rare skin disease +GARD:0022299,GARD:0022513,GARD:0021153,,Rare developmental defect during embryogenesis +GARD:0022299,GARD:0022527,GARD:0021153,,Rare circulatory system disease +GARD:0022299,GARD:0022531,GARD:0021153,,Rare genetic disease +GARD:0022300,GARD:0022527,GARD:0022297,,Rare circulatory system disease +GARD:0022300,GARD:0022510,GARD:0019019,,Rare skin disease +GARD:0022300,GARD:0022510,GARD:0022297,,Rare skin disease +GARD:0022300,GARD:0022535,GARD:0019921,,Rare neoplastic disease +GARD:0022300,GARD:0022531,GARD:0021509,,Rare genetic disease +GARD:0022300,GARD:0022523,GARD:0021509,,Rare immune disease +GARD:0022300,GARD:0022531,GARD:0019921,,Rare genetic disease +GARD:0022300,GARD:0022513,GARD:0022297,,Rare developmental defect during embryogenesis +GARD:0022300,GARD:0022531,GARD:0022297,,Rare genetic disease +GARD:0022300,GARD:0022531,GARD:0020278,,Rare genetic disease +GARD:0022301,GARD:0022527,GARD:0022297,,Rare circulatory system disease +GARD:0022301,GARD:0022513,GARD:0022297,,Rare developmental defect during embryogenesis +GARD:0022301,GARD:0022510,GARD:0022297,,Rare skin disease +GARD:0022301,GARD:0022531,GARD:0022297,,Rare genetic disease +GARD:0022302,GARD:0022527,GARD:0022297,,Rare circulatory system disease +GARD:0022302,GARD:0022519,GARD:0019558,,Rare surgical cardiac disease +GARD:0022302,GARD:0022510,GARD:0022297,,Rare skin disease +GARD:0022302,GARD:0022531,GARD:0022297,,Rare genetic disease +GARD:0022302,GARD:0022513,GARD:0022297,,Rare developmental defect during embryogenesis +GARD:0022302,GARD:0022513,GARD:0019558,,Rare developmental defect during embryogenesis +GARD:0022303,GARD:0022535,GARD:0019014,,Rare neoplastic disease +GARD:0022303,GARD:0022510,GARD:0019014,,Rare skin disease +GARD:0022304,GARD:0022535,GARD:0019363,,Rare neoplastic disease +GARD:0022304,GARD:0022514,GARD:0019363,,Rare gynecologic or obstetric disease +GARD:0022305,GARD:0022524,GARD:0012632,,Rare neurologic disease +GARD:0022305,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0022305,GARD:0022508,GARD:0012632,,Rare inborn errors of metabolism +GARD:0022305,GARD:0022531,GARD:0012632,,Rare genetic disease +GARD:0022305,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0022306,GARD:0022513,GARD:0021153,,Rare developmental defect during embryogenesis +GARD:0022306,GARD:0022510,GARD:0021153,,Rare skin disease +GARD:0022306,GARD:0022527,GARD:0021153,,Rare circulatory system disease +GARD:0022306,GARD:0022531,GARD:0021153,,Rare genetic disease +GARD:0022307,GARD:0022531,GARD:0018769,,Rare genetic disease +GARD:0022307,GARD:0022510,GARD:0018769,,Rare skin disease +GARD:0022307,GARD:0022513,GARD:0018769,,Rare developmental defect during embryogenesis +GARD:0022307,GARD:0022527,GARD:0018769,,Rare circulatory system disease +GARD:0022308,GARD:0022512,GARD:0005893,,Rare renal disease +GARD:0022308,GARD:0022531,GARD:0005893,,Rare genetic disease +GARD:0022309,GARD:0022536,GARD:0012656,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022309,GARD:0022535,GARD:0012656,,Rare neoplastic disease +GARD:0022309,GARD:0022522,GARD:0012656,,Rare hematologic disease +GARD:0022310,GARD:0022535,GARD:0019830,,Rare neoplastic disease +GARD:0022310,GARD:0022535,GARD:0012656,,Rare neoplastic disease +GARD:0022310,GARD:0022536,GARD:0012656,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022310,GARD:0022522,GARD:0012656,,Rare hematologic disease +GARD:0022311,GARD:0022522,GARD:0022522,,Rare hematologic disease +GARD:0022311,GARD:0022533,GARD:0022245,,Rare disorder due to toxic effects +GARD:0022312,GARD:0022531,GARD:0020823,,Rare genetic disease +GARD:0022312,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022312,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0022312,GARD:0022513,GARD:0019505,,Rare developmental defect during embryogenesis +GARD:0022312,GARD:0022513,GARD:0019507,,Rare developmental defect during embryogenesis +GARD:0022312,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022312,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022312,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0022312,GARD:0022531,GARD:0019505,,Rare genetic disease +GARD:0022312,GARD:0022513,GARD:0020823,,Rare developmental defect during embryogenesis +GARD:0022312,GARD:0022520,GARD:0019505,,Rare ophthalmic disorder +GARD:0022312,GARD:0022531,GARD:0019507,,Rare genetic disease +GARD:0022312,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0022312,GARD:0022520,GARD:0019507,,Rare ophthalmic disorder +GARD:0022313,GARD:0022523,GARD:0021161,,Rare immune disease +GARD:0022313,GARD:0022517,GARD:0019746,,Rare respiratory disease +GARD:0022313,GARD:0022536,GARD:0019746,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022313,GARD:0022531,GARD:0019746,,Rare genetic disease +GARD:0022313,GARD:0022531,GARD:0021161,,Rare genetic disease +GARD:0022314,GARD:0022513,GARD:0021450,GARD:0018655,Rare developmental defect during embryogenesis +GARD:0022314,GARD:0022513,GARD:0019902,GARD:0018011,Rare developmental defect during embryogenesis +GARD:0022314,GARD:0022531,GARD:0021450,GARD:0018011,Rare genetic disease +GARD:0022314,GARD:0022513,GARD:0019197,GARD:0018011,Rare developmental defect during embryogenesis +GARD:0022314,GARD:0022513,GARD:0019902,GARD:0018655,Rare developmental defect during embryogenesis +GARD:0022314,GARD:0022531,GARD:0021450,GARD:0018655,Rare genetic disease +GARD:0022314,GARD:0022511,GARD:0019197,GARD:0018655,Rare bone disease +GARD:0022314,GARD:0022531,GARD:0019197,GARD:0018011,Rare genetic disease +GARD:0022314,GARD:0022531,GARD:0020299,GARD:0018011,Rare genetic disease +GARD:0022314,GARD:0022524,GARD:0021450,GARD:0018011,Rare neurologic disease +GARD:0022314,GARD:0022531,GARD:0020299,GARD:0018655,Rare genetic disease +GARD:0022314,GARD:0022513,GARD:0019197,GARD:0018655,Rare developmental defect during embryogenesis +GARD:0022314,GARD:0022531,GARD:0019197,GARD:0018655,Rare genetic disease +GARD:0022314,GARD:0022513,GARD:0021450,GARD:0018011,Rare developmental defect during embryogenesis +GARD:0022314,GARD:0022511,GARD:0019197,GARD:0018011,Rare bone disease +GARD:0022314,GARD:0022524,GARD:0021450,GARD:0018655,Rare neurologic disease +GARD:0022315,GARD:0022535,GARD:0019765,GARD:0007385,Rare neoplastic disease +GARD:0022315,GARD:0022535,GARD:0019765,GARD:0019248,Rare neoplastic disease +GARD:0022315,GARD:0022521,GARD:0019765,GARD:0007385,Rare endocrine disease +GARD:0022315,GARD:0022521,GARD:0019765,GARD:0011984,Rare endocrine disease +GARD:0022315,GARD:0022535,GARD:0019765,GARD:0021435,Rare neoplastic disease +GARD:0022315,GARD:0022535,GARD:0019765,GARD:0011984,Rare neoplastic disease +GARD:0022315,GARD:0022521,GARD:0019765,GARD:0021435,Rare endocrine disease +GARD:0022315,GARD:0022521,GARD:0019765,GARD:0019248,Rare endocrine disease +GARD:0022316,GARD:0022513,GARD:0022317,,Rare developmental defect during embryogenesis +GARD:0022316,GARD:0022524,GARD:0022317,,Rare neurologic disease +GARD:0022316,GARD:0022531,GARD:0022317,,Rare genetic disease +GARD:0022317,GARD:0022524,GARD:0020974,GARD:0022316,Rare neurologic disease +GARD:0022317,GARD:0022531,GARD:0020974,GARD:0022316,Rare genetic disease +GARD:0022317,GARD:0022513,GARD:0020974,GARD:0022316,Rare developmental defect during embryogenesis +GARD:0022317,GARD:0022513,GARD:0020974,GARD:0001851,Rare developmental defect during embryogenesis +GARD:0022317,GARD:0022524,GARD:0020974,GARD:0001851,Rare neurologic disease +GARD:0022317,GARD:0022531,GARD:0020974,GARD:0001851,Rare genetic disease +GARD:0022318,GARD:0022523,GARD:0021795,,Rare immune disease +GARD:0022318,GARD:0022531,GARD:0021795,,Rare genetic disease +GARD:0022319,GARD:0022523,GARD:0021423,,Rare immune disease +GARD:0022319,GARD:0022531,GARD:0021423,,Rare genetic disease +GARD:0022320,GARD:0022524,GARD:0021960,,Rare neurologic disease +GARD:0022320,GARD:0022531,GARD:0022184,,Rare genetic disease +GARD:0022320,GARD:0022524,GARD:0019492,,Rare neurologic disease +GARD:0022320,GARD:0022531,GARD:0021960,,Rare genetic disease +GARD:0022320,GARD:0022531,GARD:0019492,,Rare genetic disease +GARD:0022321,GARD:0022509,GARD:0020045,,Rare infectious disease +GARD:0022321,GARD:0022517,GARD:0019793,,Rare respiratory disease +GARD:0022322,GARD:0022513,GARD:0001454,,Rare developmental defect during embryogenesis +GARD:0022322,GARD:0022531,GARD:0001454,,Rare genetic disease +GARD:0022322,GARD:0022519,GARD:0001454,,Rare surgical cardiac disease +GARD:0022323,GARD:0022531,GARD:0004229,,Rare genetic disease +GARD:0022323,GARD:0022519,GARD:0004229,,Rare surgical cardiac disease +GARD:0022323,GARD:0022513,GARD:0004229,,Rare developmental defect during embryogenesis +GARD:0022324,GARD:0022519,GARD:0004229,,Rare surgical cardiac disease +GARD:0022324,GARD:0022513,GARD:0004229,,Rare developmental defect during embryogenesis +GARD:0022324,GARD:0022531,GARD:0004229,,Rare genetic disease +GARD:0022325,GARD:0022513,GARD:0000802,,Rare developmental defect during embryogenesis +GARD:0022325,GARD:0022519,GARD:0000802,,Rare surgical cardiac disease +GARD:0022325,GARD:0022531,GARD:0000802,,Rare genetic disease +GARD:0022326,GARD:0022531,GARD:0018936,GARD:0018013,Rare genetic disease +GARD:0022326,GARD:0022524,GARD:0019832,GARD:0017204,Rare neurologic disease +GARD:0022326,GARD:0022528,GARD:0019998,GARD:0018013,Rare otorhinolaryngologic disease +GARD:0022326,GARD:0022507,GARD:0019998,GARD:0018013,Rare maxillo-facial surgical disease +GARD:0022326,GARD:0022531,GARD:0019998,GARD:0017204,Rare genetic disease +GARD:0022326,GARD:0022513,GARD:0019998,GARD:0018013,Rare developmental defect during embryogenesis +GARD:0022326,GARD:0022531,GARD:0019998,GARD:0018013,Rare genetic disease +GARD:0022326,GARD:0022513,GARD:0019909,GARD:0018013,Rare developmental defect during embryogenesis +GARD:0022326,GARD:0022531,GARD:0022441,GARD:0018013,Rare genetic disease +GARD:0022326,GARD:0022531,GARD:0018936,GARD:0017204,Rare genetic disease +GARD:0022326,GARD:0022513,GARD:0019909,GARD:0017204,Rare developmental defect during embryogenesis +GARD:0022326,GARD:0022526,GARD:0019909,GARD:0017204,Rare odontologic disease +GARD:0022326,GARD:0022531,GARD:0022441,GARD:0017204,Rare genetic disease +GARD:0022326,GARD:0022524,GARD:0019832,GARD:0018013,Rare neurologic disease +GARD:0022326,GARD:0022528,GARD:0019998,GARD:0017204,Rare otorhinolaryngologic disease +GARD:0022326,GARD:0022507,GARD:0019998,GARD:0017204,Rare maxillo-facial surgical disease +GARD:0022326,GARD:0022513,GARD:0019832,GARD:0018013,Rare developmental defect during embryogenesis +GARD:0022326,GARD:0022526,GARD:0019909,GARD:0018013,Rare odontologic disease +GARD:0022326,GARD:0022513,GARD:0019832,GARD:0017204,Rare developmental defect during embryogenesis +GARD:0022326,GARD:0022513,GARD:0019998,GARD:0017204,Rare developmental defect during embryogenesis +GARD:0022327,GARD:0022524,GARD:0018851,GARD:0022349,Rare neurologic disease +GARD:0022327,GARD:0022524,GARD:0018851,GARD:0021894,Rare neurologic disease +GARD:0022327,GARD:0022524,GARD:0018851,GARD:0006956,Rare neurologic disease +GARD:0022328,GARD:0022524,GARD:0018851,GARD:0017788,Rare neurologic disease +GARD:0022328,GARD:0022524,GARD:0018851,GARD:0007617,Rare neurologic disease +GARD:0022329,GARD:0022524,GARD:0017788,,Rare neurologic disease +GARD:0022330,GARD:0022531,GARD:0020235,GARD:0012128,Rare genetic disease +GARD:0022330,GARD:0022531,GARD:0020305,GARD:0008702,Rare genetic disease +GARD:0022330,GARD:0022522,GARD:0020235,GARD:0008702,Rare hematologic disease +GARD:0022330,GARD:0022531,GARD:0020235,GARD:0017543,Rare genetic disease +GARD:0022330,GARD:0022531,GARD:0020305,GARD:0017543,Rare genetic disease +GARD:0022330,GARD:0022522,GARD:0020235,GARD:0012128,Rare hematologic disease +GARD:0022330,GARD:0022531,GARD:0020235,GARD:0008702,Rare genetic disease +GARD:0022330,GARD:0022531,GARD:0020305,GARD:0012128,Rare genetic disease +GARD:0022330,GARD:0022522,GARD:0020235,GARD:0017543,Rare hematologic disease +GARD:0022331,GARD:0022535,GARD:0021775,,Rare neoplastic disease +GARD:0022331,GARD:0022516,GARD:0021775,,Rare gastroenterologic disease +GARD:0022332,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0022332,GARD:0022531,GARD:0021947,,Rare genetic disease +GARD:0022332,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0022332,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0022332,GARD:0022513,GARD:0020999,,Rare developmental defect during embryogenesis +GARD:0022332,GARD:0022524,GARD:0020999,,Rare neurologic disease +GARD:0022332,GARD:0022513,GARD:0021925,,Rare developmental defect during embryogenesis +GARD:0022333,GARD:0022531,GARD:0022209,,Rare genetic disease +GARD:0022333,GARD:0022513,GARD:0022209,,Rare developmental defect during embryogenesis +GARD:0022334,GARD:0022531,GARD:0022440,GARD:0013273,Rare genetic disease +GARD:0022334,GARD:0022524,GARD:0022440,GARD:0016718,Rare neurologic disease +GARD:0022334,GARD:0022508,GARD:0018815,GARD:0016717,Rare inborn errors of metabolism +GARD:0022334,GARD:0022524,GARD:0018815,GARD:0016718,Rare neurologic disease +GARD:0022334,GARD:0022531,GARD:0022440,GARD:0016717,Rare genetic disease +GARD:0022334,GARD:0022508,GARD:0018815,GARD:0016718,Rare inborn errors of metabolism +GARD:0022334,GARD:0022508,GARD:0018815,GARD:0013273,Rare inborn errors of metabolism +GARD:0022334,GARD:0022524,GARD:0018815,GARD:0016717,Rare neurologic disease +GARD:0022334,GARD:0022524,GARD:0018815,GARD:0013273,Rare neurologic disease +GARD:0022334,GARD:0022524,GARD:0022440,GARD:0016717,Rare neurologic disease +GARD:0022334,GARD:0022531,GARD:0018815,GARD:0016717,Rare genetic disease +GARD:0022334,GARD:0022524,GARD:0022440,GARD:0013273,Rare neurologic disease +GARD:0022334,GARD:0022531,GARD:0018815,GARD:0013273,Rare genetic disease +GARD:0022334,GARD:0022531,GARD:0022440,GARD:0016718,Rare genetic disease +GARD:0022334,GARD:0022531,GARD:0018815,GARD:0016718,Rare genetic disease +GARD:0022335,GARD:0022520,GARD:0000102,,Rare ophthalmic disorder +GARD:0022335,GARD:0022531,GARD:0000102,,Rare genetic disease +GARD:0022335,GARD:0022510,GARD:0000102,,Rare skin disease +GARD:0022335,GARD:0022513,GARD:0000102,,Rare developmental defect during embryogenesis +GARD:0022335,GARD:0022524,GARD:0000102,,Rare neurologic disease +GARD:0022335,GARD:0022508,GARD:0000102,,Rare inborn errors of metabolism +GARD:0022336,GARD:0022513,GARD:0000102,,Rare developmental defect during embryogenesis +GARD:0022336,GARD:0022524,GARD:0000102,,Rare neurologic disease +GARD:0022336,GARD:0022510,GARD:0000102,,Rare skin disease +GARD:0022336,GARD:0022531,GARD:0000102,,Rare genetic disease +GARD:0022336,GARD:0022508,GARD:0000102,,Rare inborn errors of metabolism +GARD:0022336,GARD:0022520,GARD:0000102,,Rare ophthalmic disorder +GARD:0022337,GARD:0022520,GARD:0000102,,Rare ophthalmic disorder +GARD:0022337,GARD:0022510,GARD:0000102,,Rare skin disease +GARD:0022337,GARD:0022531,GARD:0000102,,Rare genetic disease +GARD:0022337,GARD:0022513,GARD:0000102,,Rare developmental defect during embryogenesis +GARD:0022337,GARD:0022524,GARD:0000102,,Rare neurologic disease +GARD:0022337,GARD:0022508,GARD:0000102,,Rare inborn errors of metabolism +GARD:0022338,GARD:0022516,GARD:0022516,,Rare gastroenterologic disease +GARD:0022339,GARD:0022516,GARD:0019873,,Rare gastroenterologic disease +GARD:0022340,GARD:0022536,GARD:0012758,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022340,GARD:0022522,GARD:0012758,,Rare hematologic disease +GARD:0022340,GARD:0022535,GARD:0012758,,Rare neoplastic disease +GARD:0022341,GARD:0022522,GARD:0016920,GARD:0022344,Rare hematologic disease +GARD:0022341,GARD:0022535,GARD:0016920,GARD:0022348,Rare neoplastic disease +GARD:0022341,GARD:0022522,GARD:0016920,GARD:0022342,Rare hematologic disease +GARD:0022341,GARD:0022522,GARD:0016920,GARD:0022346,Rare hematologic disease +GARD:0022341,GARD:0022536,GARD:0016920,GARD:0022343,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022341,GARD:0022531,GARD:0022461,GARD:0022347,Rare genetic disease +GARD:0022341,GARD:0022535,GARD:0016920,GARD:0022342,Rare neoplastic disease +GARD:0022341,GARD:0022535,GARD:0016920,GARD:0022343,Rare neoplastic disease +GARD:0022341,GARD:0022535,GARD:0016920,GARD:0022345,Rare neoplastic disease +GARD:0022341,GARD:0022536,GARD:0016920,GARD:0022347,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022341,GARD:0022535,GARD:0022461,GARD:0022344,Rare neoplastic disease +GARD:0022341,GARD:0022536,GARD:0016920,GARD:0022345,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022341,GARD:0022535,GARD:0022461,GARD:0022346,Rare neoplastic disease +GARD:0022341,GARD:0022535,GARD:0022461,GARD:0022343,Rare neoplastic disease +GARD:0022341,GARD:0022531,GARD:0022461,GARD:0022346,Rare genetic disease +GARD:0022341,GARD:0022535,GARD:0022461,GARD:0022342,Rare neoplastic disease +GARD:0022341,GARD:0022535,GARD:0022461,GARD:0022347,Rare neoplastic disease +GARD:0022341,GARD:0022531,GARD:0022461,GARD:0022345,Rare genetic disease +GARD:0022341,GARD:0022531,GARD:0022461,GARD:0022342,Rare genetic disease +GARD:0022341,GARD:0022535,GARD:0016920,GARD:0022344,Rare neoplastic disease +GARD:0022341,GARD:0022522,GARD:0016920,GARD:0022348,Rare hematologic disease +GARD:0022341,GARD:0022535,GARD:0022461,GARD:0022345,Rare neoplastic disease +GARD:0022341,GARD:0022522,GARD:0016920,GARD:0022347,Rare hematologic disease +GARD:0022341,GARD:0022531,GARD:0022461,GARD:0022343,Rare genetic disease +GARD:0022341,GARD:0022535,GARD:0016920,GARD:0022347,Rare neoplastic disease +GARD:0022341,GARD:0022536,GARD:0016920,GARD:0022344,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022341,GARD:0022536,GARD:0016920,GARD:0022342,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022341,GARD:0022531,GARD:0022461,GARD:0022344,Rare genetic disease +GARD:0022341,GARD:0022522,GARD:0016920,GARD:0022343,Rare hematologic disease +GARD:0022341,GARD:0022531,GARD:0022461,GARD:0022348,Rare genetic disease +GARD:0022341,GARD:0022536,GARD:0016920,GARD:0022346,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022341,GARD:0022536,GARD:0016920,GARD:0022348,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022341,GARD:0022535,GARD:0022461,GARD:0022348,Rare neoplastic disease +GARD:0022341,GARD:0022535,GARD:0016920,GARD:0022346,Rare neoplastic disease +GARD:0022341,GARD:0022522,GARD:0016920,GARD:0022345,Rare hematologic disease +GARD:0022342,GARD:0022536,GARD:0022341,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022342,GARD:0022531,GARD:0022341,,Rare genetic disease +GARD:0022342,GARD:0022535,GARD:0022341,,Rare neoplastic disease +GARD:0022342,GARD:0022522,GARD:0022341,,Rare hematologic disease +GARD:0022343,GARD:0022535,GARD:0022341,,Rare neoplastic disease +GARD:0022343,GARD:0022536,GARD:0022341,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022343,GARD:0022531,GARD:0022341,,Rare genetic disease +GARD:0022343,GARD:0022522,GARD:0022341,,Rare hematologic disease +GARD:0022344,GARD:0022536,GARD:0022341,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022344,GARD:0022522,GARD:0022341,,Rare hematologic disease +GARD:0022344,GARD:0022531,GARD:0022341,,Rare genetic disease +GARD:0022344,GARD:0022535,GARD:0022341,,Rare neoplastic disease +GARD:0022345,GARD:0022531,GARD:0022341,,Rare genetic disease +GARD:0022345,GARD:0022536,GARD:0022341,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022345,GARD:0022522,GARD:0022341,,Rare hematologic disease +GARD:0022345,GARD:0022535,GARD:0022341,,Rare neoplastic disease +GARD:0022346,GARD:0022536,GARD:0022341,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022346,GARD:0022531,GARD:0022341,,Rare genetic disease +GARD:0022346,GARD:0022535,GARD:0022341,,Rare neoplastic disease +GARD:0022346,GARD:0022522,GARD:0022341,,Rare hematologic disease +GARD:0022347,GARD:0022531,GARD:0022341,,Rare genetic disease +GARD:0022347,GARD:0022522,GARD:0022341,,Rare hematologic disease +GARD:0022347,GARD:0022535,GARD:0022341,,Rare neoplastic disease +GARD:0022347,GARD:0022536,GARD:0022341,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022348,GARD:0022531,GARD:0022341,,Rare genetic disease +GARD:0022348,GARD:0022536,GARD:0022341,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022348,GARD:0022522,GARD:0022341,,Rare hematologic disease +GARD:0022348,GARD:0022535,GARD:0022341,,Rare neoplastic disease +GARD:0022349,GARD:0022524,GARD:0022327,,Rare neurologic disease +GARD:0022350,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022350,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0022350,GARD:0022531,GARD:0019198,,Rare genetic disease +GARD:0022350,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0022350,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022350,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0022350,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0022350,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022350,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0022350,GARD:0022511,GARD:0019198,,Rare bone disease +GARD:0022350,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0022350,GARD:0022513,GARD:0019198,,Rare developmental defect during embryogenesis +GARD:0022350,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0022351,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0022351,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022351,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0022351,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0022351,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0022351,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022352,GARD:0022531,GARD:0020385,,Rare genetic disease +GARD:0022352,GARD:0022524,GARD:0019252,,Rare neurologic disease +GARD:0022352,GARD:0022524,GARD:0020385,,Rare neurologic disease +GARD:0022352,GARD:0022531,GARD:0019252,,Rare genetic disease +GARD:0022353,GARD:0022524,GARD:0019253,,Rare neurologic disease +GARD:0022353,GARD:0022531,GARD:0019253,,Rare genetic disease +GARD:0022354,GARD:0022535,GARD:0017972,,Rare neoplastic disease +GARD:0022354,GARD:0022536,GARD:0017972,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022354,GARD:0022522,GARD:0017972,,Rare hematologic disease +GARD:0022355,GARD:0022522,GARD:0020105,,Rare hematologic disease +GARD:0022355,GARD:0022536,GARD:0020105,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022355,GARD:0022535,GARD:0020105,,Rare neoplastic disease +GARD:0022356,GARD:0022524,GARD:0010248,,Rare neurologic disease +GARD:0022356,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022356,GARD:0022531,GARD:0010248,,Rare genetic disease +GARD:0022356,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022357,GARD:0022522,GARD:0017972,,Rare hematologic disease +GARD:0022357,GARD:0022536,GARD:0017972,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022357,GARD:0022535,GARD:0017972,,Rare neoplastic disease +GARD:0022358,GARD:0022510,GARD:0006317,,Rare skin disease +GARD:0022358,GARD:0022511,GARD:0022023,,Rare bone disease +GARD:0022358,GARD:0022531,GARD:0022023,,Rare genetic disease +GARD:0022358,GARD:0022526,GARD:0019909,,Rare odontologic disease +GARD:0022358,GARD:0022513,GARD:0019909,,Rare developmental defect during embryogenesis +GARD:0022358,GARD:0022513,GARD:0006317,,Rare developmental defect during embryogenesis +GARD:0022358,GARD:0022531,GARD:0006317,,Rare genetic disease +GARD:0022358,GARD:0022510,GARD:0019005,,Rare skin disease +GARD:0022358,GARD:0022513,GARD:0022023,,Rare developmental defect during embryogenesis +GARD:0022359,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022359,GARD:0022524,GARD:0021628,,Rare neurologic disease +GARD:0022359,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022359,GARD:0022531,GARD:0021628,,Rare genetic disease +GARD:0022360,GARD:0022531,GARD:0019921,GARD:0007378,Rare genetic disease +GARD:0022360,GARD:0022531,GARD:0019921,GARD:0020467,Rare genetic disease +GARD:0022360,GARD:0022535,GARD:0019921,GARD:0007378,Rare neoplastic disease +GARD:0022360,GARD:0022535,GARD:0019921,GARD:0010096,Rare neoplastic disease +GARD:0022360,GARD:0022531,GARD:0019921,GARD:0010096,Rare genetic disease +GARD:0022360,GARD:0022531,GARD:0019921,GARD:0008533,Rare genetic disease +GARD:0022360,GARD:0022531,GARD:0019921,GARD:0006202,Rare genetic disease +GARD:0022360,GARD:0022535,GARD:0019921,GARD:0006202,Rare neoplastic disease +GARD:0022360,GARD:0022535,GARD:0019921,GARD:0020467,Rare neoplastic disease +GARD:0022360,GARD:0022535,GARD:0019921,GARD:0008533,Rare neoplastic disease +GARD:0022361,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022361,GARD:0022536,GARD:0008310,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022361,GARD:0022531,GARD:0008310,,Rare genetic disease +GARD:0022361,GARD:0022513,GARD:0008310,,Rare developmental defect during embryogenesis +GARD:0022361,GARD:0022515,GARD:0008310,,Rare cardiac disease +GARD:0022361,GARD:0022520,GARD:0008310,,Rare ophthalmic disorder +GARD:0022361,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022361,GARD:0022524,GARD:0008310,,Rare neurologic disease +GARD:0022362,GARD:0022536,GARD:0008310,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022362,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022362,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022362,GARD:0022531,GARD:0008310,,Rare genetic disease +GARD:0022362,GARD:0022524,GARD:0008310,,Rare neurologic disease +GARD:0022362,GARD:0022513,GARD:0008310,,Rare developmental defect during embryogenesis +GARD:0022362,GARD:0022515,GARD:0008310,,Rare cardiac disease +GARD:0022362,GARD:0022520,GARD:0008310,,Rare ophthalmic disorder +GARD:0022363,GARD:0022515,GARD:0008310,,Rare cardiac disease +GARD:0022363,GARD:0022520,GARD:0008310,,Rare ophthalmic disorder +GARD:0022363,GARD:0022531,GARD:0008310,,Rare genetic disease +GARD:0022363,GARD:0022536,GARD:0008310,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022363,GARD:0022513,GARD:0008310,,Rare developmental defect during embryogenesis +GARD:0022363,GARD:0022524,GARD:0008310,,Rare neurologic disease +GARD:0022363,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022363,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022364,GARD:0022531,GARD:0008310,,Rare genetic disease +GARD:0022364,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022364,GARD:0022536,GARD:0008310,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022364,GARD:0022515,GARD:0008310,,Rare cardiac disease +GARD:0022364,GARD:0022513,GARD:0008310,,Rare developmental defect during embryogenesis +GARD:0022364,GARD:0022524,GARD:0008310,,Rare neurologic disease +GARD:0022364,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022364,GARD:0022520,GARD:0008310,,Rare ophthalmic disorder +GARD:0022365,GARD:0022520,GARD:0008310,,Rare ophthalmic disorder +GARD:0022365,GARD:0022531,GARD:0008310,,Rare genetic disease +GARD:0022365,GARD:0022524,GARD:0008310,,Rare neurologic disease +GARD:0022365,GARD:0022515,GARD:0008310,,Rare cardiac disease +GARD:0022365,GARD:0022536,GARD:0008310,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022365,GARD:0022513,GARD:0008310,,Rare developmental defect during embryogenesis +GARD:0022366,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022366,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022366,GARD:0022528,GARD:0019145,,Rare otorhinolaryngologic disease +GARD:0022366,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022366,GARD:0022521,GARD:0020223,,Rare endocrine disease +GARD:0022366,GARD:0022531,GARD:0020223,,Rare genetic disease +GARD:0022366,GARD:0022528,GARD:0020000,,Rare otorhinolaryngologic disease +GARD:0022366,GARD:0022521,GARD:0020137,,Rare endocrine disease +GARD:0022366,GARD:0022531,GARD:0019145,,Rare genetic disease +GARD:0022366,GARD:0022531,GARD:0021810,,Rare genetic disease +GARD:0022366,GARD:0022513,GARD:0019145,,Rare developmental defect during embryogenesis +GARD:0022366,GARD:0022531,GARD:0020137,,Rare genetic disease +GARD:0022366,GARD:0022513,GARD:0020000,,Rare developmental defect during embryogenesis +GARD:0022367,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022367,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022367,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0022367,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0022367,GARD:0022524,GARD:0019389,,Rare neurologic disease +GARD:0022367,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0022367,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022368,GARD:0022524,GARD:0007180,,Rare neurologic disease +GARD:0022368,GARD:0022535,GARD:0007180,,Rare neoplastic disease +GARD:0022368,GARD:0022535,GARD:0004898,,Rare neoplastic disease +GARD:0022369,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022369,GARD:0022524,GARD:0020086,,Rare neurologic disease +GARD:0022369,GARD:0022531,GARD:0022157,,Rare genetic disease +GARD:0022369,GARD:0022524,GARD:0022008,,Rare neurologic disease +GARD:0022369,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022369,GARD:0022531,GARD:0022013,,Rare genetic disease +GARD:0022369,GARD:0022531,GARD:0020086,,Rare genetic disease +GARD:0022370,GARD:0022513,GARD:0021001,,Rare developmental defect during embryogenesis +GARD:0022370,GARD:0022531,GARD:0021007,,Rare genetic disease +GARD:0022370,GARD:0022531,GARD:0021728,,Rare genetic disease +GARD:0022370,GARD:0022524,GARD:0021001,,Rare neurologic disease +GARD:0022370,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022370,GARD:0022513,GARD:0019871,,Rare developmental defect during embryogenesis +GARD:0022370,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022370,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0022370,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0022370,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0022370,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022371,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022371,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022371,GARD:0022513,GARD:0019902,,Rare developmental defect during embryogenesis +GARD:0022371,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022371,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0022371,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0022371,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022371,GARD:0022531,GARD:0020299,,Rare genetic disease +GARD:0022371,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0022372,GARD:0022524,GARD:0006267,,Rare neurologic disease +GARD:0022372,GARD:0022520,GARD:0006267,,Rare ophthalmic disorder +GARD:0022373,GARD:0022524,GARD:0006267,,Rare neurologic disease +GARD:0022373,GARD:0022520,GARD:0006267,,Rare ophthalmic disorder +GARD:0022374,GARD:0022520,GARD:0006267,,Rare ophthalmic disorder +GARD:0022374,GARD:0022524,GARD:0006267,,Rare neurologic disease +GARD:0022375,GARD:0022524,GARD:0019913,,Rare neurologic disease +GARD:0022376,GARD:0022520,GARD:0022039,,Rare ophthalmic disorder +GARD:0022376,GARD:0022524,GARD:0022039,,Rare neurologic disease +GARD:0022377,GARD:0022524,GARD:0022039,,Rare neurologic disease +GARD:0022377,GARD:0022520,GARD:0022039,,Rare ophthalmic disorder +GARD:0022378,GARD:0022524,GARD:0008639,,Rare neurologic disease +GARD:0022378,GARD:0022520,GARD:0008639,,Rare ophthalmic disorder +GARD:0022379,GARD:0022520,GARD:0008639,,Rare ophthalmic disorder +GARD:0022379,GARD:0022524,GARD:0008639,,Rare neurologic disease +GARD:0022380,GARD:0022515,GARD:0009294,,Rare cardiac disease +GARD:0022380,GARD:0022531,GARD:0009294,,Rare genetic disease +GARD:0022380,GARD:0022524,GARD:0009294,,Rare neurologic disease +GARD:0022381,GARD:0022524,GARD:0009294,,Rare neurologic disease +GARD:0022381,GARD:0022515,GARD:0009294,,Rare cardiac disease +GARD:0022381,GARD:0022531,GARD:0009294,,Rare genetic disease +GARD:0022382,GARD:0022524,GARD:0009294,,Rare neurologic disease +GARD:0022382,GARD:0022515,GARD:0009294,,Rare cardiac disease +GARD:0022382,GARD:0022531,GARD:0009294,,Rare genetic disease +GARD:0022383,GARD:0022535,GARD:0018907,,Rare neoplastic disease +GARD:0022384,GARD:0022531,GARD:0019205,GARD:0006444,Rare genetic disease +GARD:0022384,GARD:0022531,GARD:0019205,GARD:0006995,Rare genetic disease +GARD:0022384,GARD:0022513,GARD:0019205,GARD:0006995,Rare developmental defect during embryogenesis +GARD:0022384,GARD:0022511,GARD:0019205,GARD:0006444,Rare bone disease +GARD:0022384,GARD:0022511,GARD:0019205,GARD:0006995,Rare bone disease +GARD:0022384,GARD:0022513,GARD:0019205,GARD:0006444,Rare developmental defect during embryogenesis +GARD:0022385,GARD:0022531,GARD:0019804,GARD:0017246,Rare genetic disease +GARD:0022385,GARD:0022531,GARD:0019804,GARD:0000555,Rare genetic disease +GARD:0022385,GARD:0022521,GARD:0019804,GARD:0012312,Rare endocrine disease +GARD:0022385,GARD:0022521,GARD:0019804,GARD:0017246,Rare endocrine disease +GARD:0022385,GARD:0022531,GARD:0019804,GARD:0012312,Rare genetic disease +GARD:0022385,GARD:0022521,GARD:0019804,GARD:0016839,Rare endocrine disease +GARD:0022385,GARD:0022521,GARD:0019804,GARD:0000555,Rare endocrine disease +GARD:0022385,GARD:0022521,GARD:0019804,GARD:0013108,Rare endocrine disease +GARD:0022385,GARD:0022531,GARD:0019804,GARD:0016839,Rare genetic disease +GARD:0022385,GARD:0022521,GARD:0019804,GARD:0013818,Rare endocrine disease +GARD:0022385,GARD:0022531,GARD:0019804,GARD:0013108,Rare genetic disease +GARD:0022385,GARD:0022531,GARD:0019804,GARD:0013818,Rare genetic disease +GARD:0022386,GARD:0022531,GARD:0010752,GARD:0017690,Rare genetic disease +GARD:0022386,GARD:0022531,GARD:0010752,GARD:0016990,Rare genetic disease +GARD:0022386,GARD:0022510,GARD:0010752,GARD:0002146,Rare skin disease +GARD:0022386,GARD:0022531,GARD:0010752,GARD:0002147,Rare genetic disease +GARD:0022386,GARD:0022531,GARD:0010752,GARD:0002148,Rare genetic disease +GARD:0022386,GARD:0022510,GARD:0010752,GARD:0002147,Rare skin disease +GARD:0022386,GARD:0022531,GARD:0010752,GARD:0017691,Rare genetic disease +GARD:0022386,GARD:0022510,GARD:0010752,GARD:0016778,Rare skin disease +GARD:0022386,GARD:0022510,GARD:0010752,GARD:0002148,Rare skin disease +GARD:0022386,GARD:0022510,GARD:0010752,GARD:0017690,Rare skin disease +GARD:0022386,GARD:0022531,GARD:0010752,GARD:0009737,Rare genetic disease +GARD:0022386,GARD:0022531,GARD:0010752,GARD:0016778,Rare genetic disease +GARD:0022386,GARD:0022531,GARD:0010752,GARD:0002146,Rare genetic disease +GARD:0022386,GARD:0022510,GARD:0010752,GARD:0009737,Rare skin disease +GARD:0022386,GARD:0022510,GARD:0010752,GARD:0016990,Rare skin disease +GARD:0022386,GARD:0022510,GARD:0010752,GARD:0002141,Rare skin disease +GARD:0022386,GARD:0022531,GARD:0010752,GARD:0002141,Rare genetic disease +GARD:0022386,GARD:0022510,GARD:0010752,GARD:0017691,Rare skin disease +GARD:0022387,GARD:0022510,GARD:0010752,GARD:0017367,Rare skin disease +GARD:0022387,GARD:0022510,GARD:0010752,GARD:0018766,Rare skin disease +GARD:0022387,GARD:0022510,GARD:0010752,GARD:0017951,Rare skin disease +GARD:0022387,GARD:0022510,GARD:0010752,GARD:0002137,Rare skin disease +GARD:0022387,GARD:0022531,GARD:0010752,GARD:0017367,Rare genetic disease +GARD:0022387,GARD:0022531,GARD:0010752,GARD:0002137,Rare genetic disease +GARD:0022387,GARD:0022510,GARD:0010752,GARD:0016991,Rare skin disease +GARD:0022387,GARD:0022531,GARD:0010752,GARD:0018766,Rare genetic disease +GARD:0022387,GARD:0022531,GARD:0010752,GARD:0017951,Rare genetic disease +GARD:0022387,GARD:0022531,GARD:0010752,GARD:0016991,Rare genetic disease +GARD:0022388,GARD:0022513,GARD:0002150,GARD:0002155,Rare developmental defect during embryogenesis +GARD:0022388,GARD:0022510,GARD:0002150,GARD:0020032,Rare skin disease +GARD:0022388,GARD:0022513,GARD:0002150,GARD:0020031,Rare developmental defect during embryogenesis +GARD:0022388,GARD:0022531,GARD:0002150,GARD:0020032,Rare genetic disease +GARD:0022388,GARD:0022513,GARD:0002150,GARD:0020032,Rare developmental defect during embryogenesis +GARD:0022388,GARD:0022531,GARD:0002150,GARD:0002155,Rare genetic disease +GARD:0022388,GARD:0022510,GARD:0002150,GARD:0002155,Rare skin disease +GARD:0022388,GARD:0022531,GARD:0002150,GARD:0020031,Rare genetic disease +GARD:0022388,GARD:0022510,GARD:0002150,GARD:0020031,Rare skin disease +GARD:0022389,GARD:0022531,GARD:0005826,,Rare genetic disease +GARD:0022389,GARD:0022511,GARD:0005826,,Rare bone disease +GARD:0022389,GARD:0022513,GARD:0005826,,Rare developmental defect during embryogenesis +GARD:0022389,GARD:0022524,GARD:0005826,,Rare neurologic disease +GARD:0022390,GARD:0022531,GARD:0020314,GARD:0005617,Rare genetic disease +GARD:0022390,GARD:0022521,GARD:0019799,GARD:0022401,Rare endocrine disease +GARD:0022390,GARD:0022521,GARD:0019799,GARD:0018002,Rare endocrine disease +GARD:0022390,GARD:0022521,GARD:0019799,GARD:0022275,Rare endocrine disease +GARD:0022390,GARD:0022531,GARD:0020314,GARD:0017068,Rare genetic disease +GARD:0022390,GARD:0022531,GARD:0020314,GARD:0022275,Rare genetic disease +GARD:0022390,GARD:0022531,GARD:0020314,GARD:0022401,Rare genetic disease +GARD:0022390,GARD:0022531,GARD:0020314,GARD:0018002,Rare genetic disease +GARD:0022390,GARD:0022521,GARD:0019799,GARD:0017068,Rare endocrine disease +GARD:0022390,GARD:0022521,GARD:0019799,GARD:0005617,Rare endocrine disease +GARD:0022391,GARD:0022525,GARD:0012521,GARD:0021867,Rare systemic or rheumatologic disease +GARD:0022391,GARD:0022525,GARD:0012521,GARD:0021885,Rare systemic or rheumatologic disease +GARD:0022391,GARD:0022525,GARD:0012521,GARD:0021076,Rare systemic or rheumatologic disease +GARD:0022391,GARD:0022525,GARD:0012521,GARD:0007043,Rare systemic or rheumatologic disease +GARD:0022391,GARD:0022525,GARD:0012521,GARD:0013256,Rare systemic or rheumatologic disease +GARD:0022391,GARD:0022525,GARD:0012521,GARD:0009568,Rare systemic or rheumatologic disease +GARD:0022391,GARD:0022525,GARD:0012521,GARD:0021882,Rare systemic or rheumatologic disease +GARD:0022391,GARD:0022525,GARD:0012521,GARD:0008169,Rare systemic or rheumatologic disease +GARD:0022391,GARD:0022525,GARD:0012521,GARD:0008337,Rare systemic or rheumatologic disease +GARD:0022391,GARD:0022525,GARD:0012521,GARD:0021884,Rare systemic or rheumatologic disease +GARD:0022391,GARD:0022525,GARD:0012521,GARD:0021883,Rare systemic or rheumatologic disease +GARD:0022391,GARD:0022525,GARD:0012521,GARD:0018866,Rare systemic or rheumatologic disease +GARD:0022392,GARD:0022523,GARD:0021981,,Rare immune disease +GARD:0022392,GARD:0022510,GARD:0019019,,Rare skin disease +GARD:0022392,GARD:0022531,GARD:0021981,,Rare genetic disease +GARD:0022392,GARD:0022531,GARD:0020278,,Rare genetic disease +GARD:0022392,GARD:0022536,GARD:0021981,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022393,GARD:0022506,GARD:0019788,GARD:0022394,Rare hepatic disease +GARD:0022393,GARD:0022506,GARD:0019788,GARD:0010929,Rare hepatic disease +GARD:0022393,GARD:0022506,GARD:0019788,GARD:0018865,Rare hepatic disease +GARD:0022394,GARD:0022506,GARD:0022393,,Rare hepatic disease +GARD:0022395,GARD:0022516,GARD:0019849,,Rare gastroenterologic disease +GARD:0022395,GARD:0022531,GARD:0020060,,Rare genetic disease +GARD:0022395,GARD:0022536,GARD:0019849,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022396,GARD:0022524,GARD:0021596,,Rare neurologic disease +GARD:0022396,GARD:0022531,GARD:0021596,,Rare genetic disease +GARD:0022397,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022397,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022397,GARD:0022532,GARD:0020064,,Rare urogenital disease +GARD:0022397,GARD:0022519,GARD:0020003,,Rare surgical cardiac disease +GARD:0022397,GARD:0022513,GARD:0020003,,Rare developmental defect during embryogenesis +GARD:0022397,GARD:0022531,GARD:0019218,,Rare genetic disease +GARD:0022397,GARD:0022531,GARD:0020003,,Rare genetic disease +GARD:0022397,GARD:0022536,GARD:0019218,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022397,GARD:0022513,GARD:0019218,,Rare developmental defect during embryogenesis +GARD:0022397,GARD:0022531,GARD:0021000,,Rare genetic disease +GARD:0022397,GARD:0022512,GARD:0019218,,Rare renal disease +GARD:0022397,GARD:0022531,GARD:0020064,,Rare genetic disease +GARD:0022397,GARD:0022513,GARD:0021000,,Rare developmental defect during embryogenesis +GARD:0022397,GARD:0022513,GARD:0020064,,Rare developmental defect during embryogenesis +GARD:0022397,GARD:0022524,GARD:0021000,,Rare neurologic disease +GARD:0022397,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022398,GARD:0022531,GARD:0020137,,Rare genetic disease +GARD:0022398,GARD:0022513,GARD:0022399,,Rare developmental defect during embryogenesis +GARD:0022398,GARD:0022524,GARD:0022399,,Rare neurologic disease +GARD:0022398,GARD:0022511,GARD:0022399,,Rare bone disease +GARD:0022398,GARD:0022532,GARD:0022399,,Rare urogenital disease +GARD:0022398,GARD:0022531,GARD:0022399,,Rare genetic disease +GARD:0022398,GARD:0022521,GARD:0020137,,Rare endocrine disease +GARD:0022399,GARD:0022532,GARD:0020064,GARD:0016618,Rare urogenital disease +GARD:0022399,GARD:0022531,GARD:0019209,GARD:0016618,Rare genetic disease +GARD:0022399,GARD:0022511,GARD:0019209,GARD:0022398,Rare bone disease +GARD:0022399,GARD:0022531,GARD:0022441,GARD:0016618,Rare genetic disease +GARD:0022399,GARD:0022531,GARD:0019209,GARD:0010994,Rare genetic disease +GARD:0022399,GARD:0022531,GARD:0020064,GARD:0010994,Rare genetic disease +GARD:0022399,GARD:0022513,GARD:0019832,GARD:0010994,Rare developmental defect during embryogenesis +GARD:0022399,GARD:0022513,GARD:0019832,GARD:0022398,Rare developmental defect during embryogenesis +GARD:0022399,GARD:0022524,GARD:0019832,GARD:0010994,Rare neurologic disease +GARD:0022399,GARD:0022513,GARD:0020064,GARD:0022398,Rare developmental defect during embryogenesis +GARD:0022399,GARD:0022513,GARD:0019832,GARD:0016618,Rare developmental defect during embryogenesis +GARD:0022399,GARD:0022532,GARD:0020064,GARD:0010994,Rare urogenital disease +GARD:0022399,GARD:0022513,GARD:0020064,GARD:0010994,Rare developmental defect during embryogenesis +GARD:0022399,GARD:0022531,GARD:0022441,GARD:0010994,Rare genetic disease +GARD:0022399,GARD:0022513,GARD:0019209,GARD:0022398,Rare developmental defect during embryogenesis +GARD:0022399,GARD:0022532,GARD:0020064,GARD:0022398,Rare urogenital disease +GARD:0022399,GARD:0022531,GARD:0022441,GARD:0022398,Rare genetic disease +GARD:0022399,GARD:0022531,GARD:0020064,GARD:0022398,Rare genetic disease +GARD:0022399,GARD:0022511,GARD:0019209,GARD:0016618,Rare bone disease +GARD:0022399,GARD:0022524,GARD:0019832,GARD:0016618,Rare neurologic disease +GARD:0022399,GARD:0022524,GARD:0019832,GARD:0022398,Rare neurologic disease +GARD:0022399,GARD:0022513,GARD:0019209,GARD:0010994,Rare developmental defect during embryogenesis +GARD:0022399,GARD:0022531,GARD:0020064,GARD:0016618,Rare genetic disease +GARD:0022399,GARD:0022531,GARD:0019209,GARD:0022398,Rare genetic disease +GARD:0022399,GARD:0022511,GARD:0019209,GARD:0010994,Rare bone disease +GARD:0022399,GARD:0022513,GARD:0019209,GARD:0016618,Rare developmental defect during embryogenesis +GARD:0022399,GARD:0022513,GARD:0020064,GARD:0016618,Rare developmental defect during embryogenesis +GARD:0022400,GARD:0022516,GARD:0019849,,Rare gastroenterologic disease +GARD:0022400,GARD:0022531,GARD:0020060,,Rare genetic disease +GARD:0022400,GARD:0022536,GARD:0019849,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022401,GARD:0022521,GARD:0022390,,Rare endocrine disease +GARD:0022401,GARD:0022531,GARD:0022390,,Rare genetic disease +GARD:0022402,GARD:0022524,GARD:0012825,,Rare neurologic disease +GARD:0022402,GARD:0022531,GARD:0012825,,Rare genetic disease +GARD:0022403,GARD:0022525,GARD:0020255,,Rare systemic or rheumatologic disease +GARD:0022404,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022404,GARD:0022531,GARD:0020083,,Rare genetic disease +GARD:0022404,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022404,GARD:0022524,GARD:0020083,,Rare neurologic disease +GARD:0022405,GARD:0022524,GARD:0006895,,Rare neurologic disease +GARD:0022405,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022405,GARD:0022531,GARD:0006895,,Rare genetic disease +GARD:0022405,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022405,GARD:0022524,GARD:0020286,,Rare neurologic disease +GARD:0022405,GARD:0022531,GARD:0020286,,Rare genetic disease +GARD:0022406,GARD:0022531,GARD:0022195,,Rare genetic disease +GARD:0022406,GARD:0022530,GARD:0022195,,Rare allergic disease +GARD:0022406,GARD:0022525,GARD:0022195,,Rare systemic or rheumatologic disease +GARD:0022407,GARD:0022522,GARD:0020093,,Rare hematologic disease +GARD:0022408,GARD:0022522,GARD:0020093,,Rare hematologic disease +GARD:0022409,GARD:0022522,GARD:0020093,,Rare hematologic disease +GARD:0022410,GARD:0022522,GARD:0020093,,Rare hematologic disease +GARD:0022411,GARD:0022522,GARD:0020093,,Rare hematologic disease +GARD:0022412,GARD:0022522,GARD:0020093,,Rare hematologic disease +GARD:0022413,GARD:0022531,GARD:0018873,GARD:0022414,Rare genetic disease +GARD:0022413,GARD:0022522,GARD:0018873,GARD:0022415,Rare hematologic disease +GARD:0022413,GARD:0022531,GARD:0018873,GARD:0022415,Rare genetic disease +GARD:0022413,GARD:0022522,GARD:0018873,GARD:0022414,Rare hematologic disease +GARD:0022413,GARD:0022522,GARD:0018873,GARD:0017613,Rare hematologic disease +GARD:0022413,GARD:0022531,GARD:0018873,GARD:0017613,Rare genetic disease +GARD:0022414,GARD:0022522,GARD:0022413,,Rare hematologic disease +GARD:0022414,GARD:0022531,GARD:0022413,,Rare genetic disease +GARD:0022415,GARD:0022522,GARD:0022413,,Rare hematologic disease +GARD:0022415,GARD:0022531,GARD:0022413,,Rare genetic disease +GARD:0022416,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022416,GARD:0022524,GARD:0020099,,Rare neurologic disease +GARD:0022416,GARD:0022524,GARD:0018879,,Rare neurologic disease +GARD:0022416,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022416,GARD:0022531,GARD:0020099,,Rare genetic disease +GARD:0022417,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022417,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022417,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022418,GARD:0022522,GARD:0018873,,Rare hematologic disease +GARD:0022418,GARD:0022531,GARD:0018873,,Rare genetic disease +GARD:0022419,GARD:0022509,GARD:0020044,GARD:0013588,Rare infectious disease +GARD:0022419,GARD:0022509,GARD:0020044,GARD:0006876,Rare infectious disease +GARD:0022420,GARD:0022531,GARD:0016534,,Rare genetic disease +GARD:0022420,GARD:0022536,GARD:0016534,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022420,GARD:0022513,GARD:0016534,,Rare developmental defect during embryogenesis +GARD:0022420,GARD:0022534,GARD:0016534,,Rare abdominal surgical disease +GARD:0022421,GARD:0022513,GARD:0016534,GARD:0022422,Rare developmental defect during embryogenesis +GARD:0022421,GARD:0022534,GARD:0016534,GARD:0022422,Rare abdominal surgical disease +GARD:0022421,GARD:0022536,GARD:0016534,GARD:0022422,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022421,GARD:0022531,GARD:0016534,GARD:0022423,Rare genetic disease +GARD:0022421,GARD:0022536,GARD:0016534,GARD:0022423,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022421,GARD:0022531,GARD:0016534,GARD:0022422,Rare genetic disease +GARD:0022421,GARD:0022534,GARD:0016534,GARD:0022423,Rare abdominal surgical disease +GARD:0022421,GARD:0022513,GARD:0016534,GARD:0022423,Rare developmental defect during embryogenesis +GARD:0022422,GARD:0022536,GARD:0022421,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022422,GARD:0022531,GARD:0022421,,Rare genetic disease +GARD:0022422,GARD:0022513,GARD:0022421,,Rare developmental defect during embryogenesis +GARD:0022422,GARD:0022534,GARD:0022421,,Rare abdominal surgical disease +GARD:0022423,GARD:0022536,GARD:0022421,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022423,GARD:0022534,GARD:0022421,,Rare abdominal surgical disease +GARD:0022423,GARD:0022513,GARD:0022421,,Rare developmental defect during embryogenesis +GARD:0022423,GARD:0022531,GARD:0022421,,Rare genetic disease +GARD:0022424,GARD:0022513,GARD:0016534,,Rare developmental defect during embryogenesis +GARD:0022424,GARD:0022536,GARD:0016534,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022424,GARD:0022534,GARD:0016534,,Rare abdominal surgical disease +GARD:0022424,GARD:0022531,GARD:0016534,,Rare genetic disease +GARD:0022425,GARD:0022513,GARD:0016534,,Rare developmental defect during embryogenesis +GARD:0022425,GARD:0022531,GARD:0016534,,Rare genetic disease +GARD:0022425,GARD:0022536,GARD:0016534,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022425,GARD:0022534,GARD:0016534,,Rare abdominal surgical disease +GARD:0022426,GARD:0022531,GARD:0016534,,Rare genetic disease +GARD:0022426,GARD:0022534,GARD:0016534,,Rare abdominal surgical disease +GARD:0022426,GARD:0022513,GARD:0016534,,Rare developmental defect during embryogenesis +GARD:0022426,GARD:0022536,GARD:0016534,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022427,GARD:0022531,GARD:0016534,,Rare genetic disease +GARD:0022427,GARD:0022536,GARD:0016534,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022427,GARD:0022513,GARD:0016534,,Rare developmental defect during embryogenesis +GARD:0022427,GARD:0022534,GARD:0016534,,Rare abdominal surgical disease +GARD:0022428,GARD:0022536,GARD:0016534,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022428,GARD:0022531,GARD:0016534,,Rare genetic disease +GARD:0022428,GARD:0022513,GARD:0016534,,Rare developmental defect during embryogenesis +GARD:0022428,GARD:0022534,GARD:0016534,,Rare abdominal surgical disease +GARD:0022429,GARD:0022513,GARD:0016534,,Rare developmental defect during embryogenesis +GARD:0022429,GARD:0022536,GARD:0016534,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022429,GARD:0022534,GARD:0016534,,Rare abdominal surgical disease +GARD:0022429,GARD:0022531,GARD:0016534,,Rare genetic disease +GARD:0022430,GARD:0022531,GARD:0016534,,Rare genetic disease +GARD:0022430,GARD:0022536,GARD:0016534,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022430,GARD:0022513,GARD:0016534,,Rare developmental defect during embryogenesis +GARD:0022430,GARD:0022534,GARD:0016534,,Rare abdominal surgical disease +GARD:0022431,GARD:0022534,GARD:0016534,,Rare abdominal surgical disease +GARD:0022431,GARD:0022531,GARD:0016534,,Rare genetic disease +GARD:0022431,GARD:0022536,GARD:0016534,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022431,GARD:0022513,GARD:0016534,,Rare developmental defect during embryogenesis +GARD:0022432,GARD:0022513,GARD:0016534,,Rare developmental defect during embryogenesis +GARD:0022432,GARD:0022531,GARD:0016534,,Rare genetic disease +GARD:0022432,GARD:0022534,GARD:0016534,,Rare abdominal surgical disease +GARD:0022432,GARD:0022536,GARD:0016534,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022433,GARD:0022513,GARD:0016534,,Rare developmental defect during embryogenesis +GARD:0022433,GARD:0022534,GARD:0016534,,Rare abdominal surgical disease +GARD:0022433,GARD:0022536,GARD:0016534,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022433,GARD:0022531,GARD:0016534,,Rare genetic disease +GARD:0022434,GARD:0022536,GARD:0020251,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022434,GARD:0022532,GARD:0020251,,Rare urogenital disease +GARD:0022434,GARD:0022513,GARD:0020251,,Rare developmental defect during embryogenesis +GARD:0022435,GARD:0022531,GARD:0021708,,Rare genetic disease +GARD:0022435,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0022435,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022435,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022435,GARD:0022524,GARD:0022438,,Rare neurologic disease +GARD:0022435,GARD:0022524,GARD:0021708,,Rare neurologic disease +GARD:0022435,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0022435,GARD:0022531,GARD:0022438,,Rare genetic disease +GARD:0022435,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022436,GARD:0022524,GARD:0022438,,Rare neurologic disease +GARD:0022436,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022436,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022436,GARD:0022531,GARD:0022438,,Rare genetic disease +GARD:0022436,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022437,GARD:0022524,GARD:0022438,,Rare neurologic disease +GARD:0022437,GARD:0022531,GARD:0022108,,Rare genetic disease +GARD:0022437,GARD:0022531,GARD:0021708,,Rare genetic disease +GARD:0022437,GARD:0022524,GARD:0021708,,Rare neurologic disease +GARD:0022437,GARD:0022531,GARD:0022438,,Rare genetic disease +GARD:0022437,GARD:0022520,GARD:0022108,,Rare ophthalmic disorder +GARD:0022438,GARD:0022531,GARD:0018915,GARD:0022437,Rare genetic disease +GARD:0022438,GARD:0022531,GARD:0018915,GARD:0022435,Rare genetic disease +GARD:0022438,GARD:0022524,GARD:0022524,GARD:0022437,Rare neurologic disease +GARD:0022438,GARD:0022524,GARD:0022524,GARD:0022435,Rare neurologic disease +GARD:0022438,GARD:0022524,GARD:0022524,GARD:0022436,Rare neurologic disease +GARD:0022438,GARD:0022531,GARD:0018915,GARD:0022436,Rare genetic disease +GARD:0022439,GARD:0022524,GARD:0000101,,Rare neurologic disease +GARD:0022439,GARD:0022531,GARD:0020401,,Rare genetic disease +GARD:0022439,GARD:0022531,GARD:0000101,,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017897,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0005694,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0007224,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0013232,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0000634,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017604,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022361,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017880,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003908,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017883,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0003506,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009741,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0005696,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0007513,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0003622,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017915,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0006426,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017603,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009836,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0004634,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022404,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003589,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017940,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0020128,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0015023,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017813,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012541,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0002945,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009831,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003203,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0011925,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017957,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009912,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0007887,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017605,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012978,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0006500,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003584,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010226,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017804,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017958,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0007910,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022362,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003622,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0005592,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009867,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003105,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0003203,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009679,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0006473,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0007096,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0005592,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017982,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017171,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012535,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0013594,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012398,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017597,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0005040,Rare genetic disease 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+GARD:0022440,GARD:0022524,GARD:0019834,GARD:0007887,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0013409,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017856,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0011925,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010484,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017940,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0001638,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0002659,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0020128,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0003588,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017481,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0020899,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017597,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017314,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009999,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009940,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0007706,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017980,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0003105,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010818,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0006406,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009298,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017314,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0018012,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0013423,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017974,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0018000,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0005787,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012444,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0005764,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0004154,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0016987,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012524,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010905,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0016826,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022356,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003588,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017964,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0004644,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009832,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0001313,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0004235,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0007910,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0004543,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0002578,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017429,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012825,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0002566,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012315,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017072,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022192,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017759,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0007830,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0008360,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0001902,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009839,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009833,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022334,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0004932,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0003128,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012388,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010514,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009827,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0003006,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009587,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0016561,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017562,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017072,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0016685,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017880,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0008391,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0000869,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0008756,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009830,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003128,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017759,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0016597,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0018789,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012983,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0021752,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017734,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0000347,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017516,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017964,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017792,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017475,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012315,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022364,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017893,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0021538,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0004694,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010321,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0007389,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0005862,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0006274,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017836,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0007706,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009827,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0018789,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0002378,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017770,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022266,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009834,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017355,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022416,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0013232,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017787,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0013474,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0016622,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012416,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017557,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022484,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010472,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017767,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0003908,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0004634,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0002198,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0007473,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009412,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009912,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022404,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0013319,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0013568,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0016862,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0021890,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0004932,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010716,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0018641,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022212,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017485,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022266,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0013221,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012059,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0005053,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0016561,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012411,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012715,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017519,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003347,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0006473,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017701,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010226,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0000013,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010484,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0002498,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0001123,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017786,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017736,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0008360,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017914,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017833,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0021134,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010199,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010358,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0006675,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017853,Rare neurologic disease 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+GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009730,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022351,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0001199,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009581,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012541,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0013639,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003843,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022359,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009828,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017476,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017767,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012978,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0013221,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022015,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022351,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0005617,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003531,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0007486,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022416,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010321,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012409,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012348,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009828,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0000869,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022405,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017521,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0004694,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0007158,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022271,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0002169,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017521,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0000575,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010730,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017517,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0001356,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0002830,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0000606,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0004154,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0008756,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0007830,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010294,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009834,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0006667,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0004919,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012825,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010541,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017920,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009587,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022356,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017603,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0016843,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0021134,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010199,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0018841,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0018026,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0016677,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017130,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0007473,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017883,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010627,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0005862,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012544,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0001123,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0000262,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009833,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0021813,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010522,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0004331,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017930,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0007639,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017515,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010999,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009829,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017606,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0018018,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012128,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0019063,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009837,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017659,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003576,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0008341,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0006291,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012570,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009730,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022192,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017516,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0005429,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009832,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010609,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0005787,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012396,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0000299,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017326,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012394,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0016748,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0001052,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022075,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022369,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017238,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0016771,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0004331,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022232,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0013319,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022484,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0001038,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0002167,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017429,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0003347,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003681,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012535,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022075,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0002167,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017957,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003006,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017515,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0003295,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0016747,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012163,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022359,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017837,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017475,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0021083,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022369,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017897,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017326,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0000299,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0021173,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0013658,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0004931,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0016747,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0001199,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010818,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017962,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0007096,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0016584,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012539,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0000550,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010609,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017689,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009898,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0007695,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0001638,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009830,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0007486,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017481,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0013060,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0016743,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012570,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0004922,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012544,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0019062,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022363,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0002169,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0002378,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012388,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012059,Rare neurologic disease 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+GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009581,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009829,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017562,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0013423,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0016584,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010541,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003506,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0016786,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012964,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017905,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012163,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0000457,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017980,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0004922,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0003843,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0016558,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009838,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017350,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010472,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009412,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0021579,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0008331,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017701,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0019685,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017813,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009255,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0005372,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0005694,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017517,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017002,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017425,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022361,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012571,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0005429,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022405,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0000094,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0000465,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0003589,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0000607,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017238,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0000292,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0008331,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0004606,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0015023,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0018841,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0016826,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012539,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010999,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0019061,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009836,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0019685,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017974,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0004919,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017480,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0005040,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0004265,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0007639,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012652,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0000292,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009679,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017920,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012964,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0006291,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0011980,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0004606,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012571,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009867,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022015,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0001052,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0018012,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0007224,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012401,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0002943,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010358,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017934,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009838,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017445,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0006778,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012397,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017602,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0003295,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009826,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017962,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0005617,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0002830,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0005053,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0016987,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017930,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017036,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0013639,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0013202,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0009741,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0016677,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0005843,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010121,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017485,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0018018,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012416,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0013568,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017557,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017914,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0022231,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0000575,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0016786,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0016771,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0000634,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0002578,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012411,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017477,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009980,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012395,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017604,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0007654,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0004337,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010121,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0004644,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0000607,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017786,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017445,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012551,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0021538,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0002566,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012715,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0009837,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017934,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0010730,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0001358,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0006274,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0012524,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0013594,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0001521,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0006667,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0001356,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0019063,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0016558,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0010905,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017477,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0000094,Rare genetic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012396,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017837,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0003885,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0005188,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0017355,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0018000,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0017836,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012417,Rare genetic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0000013,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0022271,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0004337,Rare neurologic disease +GARD:0022440,GARD:0022524,GARD:0019834,GARD:0000612,Rare neurologic disease +GARD:0022440,GARD:0022531,GARD:0020326,GARD:0012444,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021753,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001525,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006124,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0012931,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017636,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0020125,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0009146,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021367,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003242,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002222,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002765,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017803,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005530,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0012913,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000400,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001118,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017674,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017668,Rare genetic disease 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+GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005560,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006026,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0013244,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0019054,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002572,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017944,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003566,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000049,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003904,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018791,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005611,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0019055,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017923,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0007633,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004305,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022436,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003524,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0013811,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004424,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010056,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016603,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005666,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0012501,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010027,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003252,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004372,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005978,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0020054,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018025,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003699,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018919,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0012641,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021753,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017520,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002765,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0019053,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005679,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021057,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016709,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002213,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017505,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000816,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000290,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000270,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000448,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002601,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000049,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010955,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002928,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000330,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000117,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021816,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017947,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021521,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004899,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000494,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0011985,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003889,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017680,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017548,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001078,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017301,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017814,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005121,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017821,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0007239,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002523,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017988,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000739,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000764,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016645,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017911,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017709,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0008407,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017896,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000065,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017410,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016606,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017571,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010608,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000310,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021142,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010892,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003610,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021706,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000270,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002586,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004061,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003413,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005864,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0012486,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018926,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009292,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017122,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003523,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017009,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004050,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010109,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001440,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0009157,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0008520,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022202,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003505,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000371,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004238,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017571,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010109,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000415,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017998,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0013244,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021705,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004550,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009163,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0013638,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000690,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017903,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0008586,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0012781,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021858,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002178,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0008423,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016603,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010608,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018764,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000062,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0008449,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0015000,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000248,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006122,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003409,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000193,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022070,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022417,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000062,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000381,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017423,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003169,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002727,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004863,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021057,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000354,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0007633,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0013431,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005426,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006802,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017609,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0013259,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003236,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006123,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0013781,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003406,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0012426,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0012931,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003627,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017007,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021232,Rare genetic disease 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+GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017960,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010996,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001210,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016586,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018909,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000068,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017680,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004017,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003645,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018767,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022367,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009509,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017006,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010296,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006126,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017588,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017120,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022048,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003406,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016602,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004482,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000248,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001064,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0012815,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017673,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017838,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016598,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017674,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0009994,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005584,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017988,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017139,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005676,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009981,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0008422,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017992,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006295,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021717,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022211,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006810,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009146,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017611,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017668,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001537,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0013043,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000971,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009157,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017997,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006550,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017872,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0008329,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005036,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016761,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017139,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021441,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010354,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016648,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004069,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000193,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003964,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017630,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000893,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0012766,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004870,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0007891,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002317,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005394,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000312,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004709,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003615,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017609,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006810,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0008433,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004856,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006126,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002044,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016567,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000895,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005539,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017721,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005579,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010011,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000722,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004870,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018016,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022010,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002168,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0009288,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004299,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021450,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0012166,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004488,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003236,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017895,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017716,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000409,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017017,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017785,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017730,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017584,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001608,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0013489,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005238,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0019060,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017898,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005575,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006802,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016624,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009850,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017219,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004424,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017970,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022370,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017721,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000028,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003530,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005398,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017872,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016553,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005545,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010145,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000082,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000288,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003627,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005565,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004304,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005177,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010727,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0013390,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017422,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006123,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021875,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000105,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001548,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0007305,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005036,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001515,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010572,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017993,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005950,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017315,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018921,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018016,Rare genetic disease 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+GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003480,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017944,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001163,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017894,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0009849,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003078,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002230,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017871,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001899,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0012814,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0013206,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002287,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001550,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0008549,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0009673,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000739,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003482,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010011,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010892,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022458,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004160,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0008423,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021117,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001392,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003519,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022071,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021522,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000172,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018019,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003609,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006665,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017885,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010582,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0008197,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021816,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0007801,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000350,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017588,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018022,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0015000,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002409,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005518,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022211,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0013636,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022399,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022371,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017802,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0008433,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004636,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005238,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022436,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021751,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009673,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005225,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0009126,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000583,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003078,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017592,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000290,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003519,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0007523,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004304,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009849,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009711,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017817,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0020687,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006985,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017310,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000713,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006950,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002907,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004861,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017687,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005721,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000400,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001418,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017924,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003964,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000411,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0012766,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005688,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021557,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017935,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005453,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017805,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016751,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003449,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001548,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005575,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006465,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004169,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005545,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0007878,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017648,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004550,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017219,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0019247,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017505,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017120,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017687,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017281,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000144,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021522,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0007891,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0012405,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016993,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003448,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006973,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018001,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017824,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004863,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010573,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010299,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018015,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017808,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009994,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004482,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016752,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021599,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017960,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0008422,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004568,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017805,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010202,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000409,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004238,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009977,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000345,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000587,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0008623,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0007387,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000378,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017945,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000494,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003505,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017188,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016640,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005121,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000312,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004775,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017800,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000331,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016578,Rare genetic disease 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+GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017985,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003141,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016845,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0008428,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000958,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005739,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003007,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003388,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017873,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001578,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004375,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016578,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018818,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003491,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004064,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003566,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003530,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010775,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005026,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021360,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006290,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006866,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017815,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016761,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009991,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004119,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0007784,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021232,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0007917,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002576,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003409,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0009991,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018032,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0019053,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004776,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003596,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017942,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003307,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018926,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016606,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000958,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0012669,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0012486,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003645,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001061,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021817,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004628,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0012405,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017832,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017742,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022350,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004121,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000239,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017017,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000882,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000257,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017885,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017666,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004010,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016740,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000080,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017188,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0008672,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017921,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017797,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017821,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005950,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018019,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0013774,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009455,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006290,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010998,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016648,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0007784,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0013032,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003514,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001516,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000722,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016567,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016598,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0007649,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001210,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006425,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0007593,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017846,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004121,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010727,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0012117,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000350,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001550,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016742,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016750,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003659,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005589,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001810,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009811,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0007801,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021918,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017375,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000118,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018031,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017993,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005679,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006455,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017791,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0008585,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003615,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0009811,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0009984,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017808,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017716,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000272,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017542,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001167,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004683,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004899,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003413,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002576,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000378,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017566,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010169,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022371,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000192,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000936,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0013655,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017742,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017739,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010998,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005833,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000385,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002317,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005490,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017850,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017410,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022326,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0013431,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002523,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006026,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017645,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017005,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003424,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004375,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0007097,Rare genetic disease 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+GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018818,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005066,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021521,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000496,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022202,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003520,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005266,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018923,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022397,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000003,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0013781,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017673,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000003,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001516,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003480,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005676,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021117,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022435,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000918,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0008585,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017006,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003388,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021906,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000816,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006122,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021367,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0008449,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005826,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017761,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017955,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000764,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001443,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005864,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005066,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001440,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005666,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017803,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001392,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0019247,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017862,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006445,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004299,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0009977,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022366,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010582,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000936,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017581,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016602,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000690,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000358,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017581,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005833,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001118,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009675,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0013206,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017630,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022048,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0007387,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0007183,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0013806,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004776,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001899,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006866,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010168,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017992,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000288,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006749,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004628,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017815,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018646,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010089,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017636,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005177,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021583,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004372,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004641,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017112,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002287,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004017,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016952,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010140,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000371,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021142,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018840,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0008329,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000605,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006665,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021904,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002178,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003902,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000836,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017281,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0020594,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004120,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0019056,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022312,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005887,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004120,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003482,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000354,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004748,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005539,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017942,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022397,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000344,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004778,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000064,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017502,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004169,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000144,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0007593,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010518,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005456,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000860,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0013527,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017584,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018767,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017422,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005611,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002572,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021898,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017739,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018020,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0009156,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000230,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017620,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006295,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010572,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017007,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0012814,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010341,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006003,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000267,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000415,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006749,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005453,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006124,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017832,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017005,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005528,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017709,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003610,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000583,Rare genetic disease 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+GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003699,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0019054,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009984,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017817,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003693,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0013390,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0012291,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022043,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021705,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022435,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001418,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004488,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010145,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016742,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009947,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004905,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003609,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002044,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002727,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021599,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017923,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017816,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000257,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005683,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006950,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021583,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017423,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0020054,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021363,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022417,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003426,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0012777,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000068,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001537,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010341,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003169,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017987,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010283,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010518,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016553,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021379,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005579,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017895,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017896,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002586,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010130,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004079,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004748,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022326,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021737,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021817,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001002,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017724,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000893,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003523,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018029,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003084,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009126,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0019060,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017898,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0009842,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000826,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000381,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017987,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006464,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016624,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017953,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016993,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0020779,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0010089,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0020687,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000897,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0003318,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000280,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021898,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003223,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0011985,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0001443,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006425,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021906,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010091,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021437,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000080,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021751,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004160,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004641,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000118,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0019056,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017800,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0012487,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021859,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017816,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0006003,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004683,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0012845,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016753,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018923,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0008520,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018791,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0012559,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0013636,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016952,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000243,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004034,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021750,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0006457,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018029,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017761,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0013811,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017859,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0012166,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0000826,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0002230,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0016746,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0009509,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018840,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021633,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0007890,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005225,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005810,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000239,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0013789,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0017666,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0021641,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0002725,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021858,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017611,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021993,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004856,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0012426,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0013043,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017502,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0016752,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0009704,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0018025,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000448,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018763,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0004305,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0005528,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001322,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0022070,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005887,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0018001,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017798,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003300,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005589,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0010027,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005802,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0000082,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0008407,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0017542,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0003904,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0021918,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0020594,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0022399,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0007649,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020291,GARD:0008428,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0004061,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0001810,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0007239,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0005615,Rare genetic disease +GARD:0022441,GARD:0022531,GARD:0020326,GARD:0008549,Rare genetic disease +GARD:0022442,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0022443,GARD:0022514,GARD:0020049,,Rare gynecologic or obstetric disease +GARD:0022445,GARD:0022514,GARD:0022450,,Rare gynecologic or obstetric disease +GARD:0022445,GARD:0022522,GARD:0022522,,Rare hematologic disease +GARD:0022446,GARD:0022514,GARD:0022450,,Rare gynecologic or obstetric disease +GARD:0022447,GARD:0022514,GARD:0022451,,Rare gynecologic or obstetric disease +GARD:0022448,GARD:0022514,GARD:0020049,,Rare gynecologic or obstetric disease +GARD:0022449,GARD:0022514,GARD:0020049,GARD:0022450,Rare gynecologic or obstetric disease +GARD:0022449,GARD:0022514,GARD:0020049,GARD:0022451,Rare gynecologic or obstetric disease +GARD:0022450,GARD:0022514,GARD:0022449,GARD:0022445,Rare gynecologic or obstetric disease +GARD:0022450,GARD:0022514,GARD:0022449,GARD:0000325,Rare gynecologic or obstetric disease +GARD:0022450,GARD:0022514,GARD:0022449,GARD:0022446,Rare gynecologic or obstetric disease +GARD:0022451,GARD:0022514,GARD:0022449,GARD:0022447,Rare gynecologic or obstetric disease +GARD:0022452,GARD:0022510,GARD:0019119,,Rare skin disease +GARD:0022453,GARD:0022531,GARD:0022185,,Rare genetic disease +GARD:0022453,GARD:0022520,GARD:0022110,,Rare ophthalmic disorder +GARD:0022454,GARD:0021079,GARD:0010927,,Rare systemic or rheumatological disease of childhood +GARD:0022454,GARD:0022525,GARD:0010927,,Rare systemic or rheumatologic disease +GARD:0022454,GARD:0022531,GARD:0010927,,Rare genetic disease +GARD:0022454,GARD:0022510,GARD:0010927,,Rare skin disease +GARD:0022454,GARD:0022523,GARD:0010927,,Rare immune disease +GARD:0022455,GARD:0022531,GARD:0008732,,Rare genetic disease +GARD:0022455,GARD:0022522,GARD:0008732,,Rare hematologic disease +GARD:0022456,GARD:0022524,GARD:0021615,,Rare neurologic disease +GARD:0022456,GARD:0022506,GARD:0022457,,Rare hepatic disease +GARD:0022456,GARD:0022536,GARD:0022457,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022456,GARD:0022508,GARD:0022457,,Rare inborn errors of metabolism +GARD:0022456,GARD:0022531,GARD:0022457,,Rare genetic disease +GARD:0022456,GARD:0022508,GARD:0021971,,Rare inborn errors of metabolism +GARD:0022456,GARD:0022531,GARD:0021971,,Rare genetic disease +GARD:0022456,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0022456,GARD:0022517,GARD:0022457,,Rare respiratory disease +GARD:0022456,GARD:0022521,GARD:0021971,,Rare endocrine disease +GARD:0022457,GARD:0022531,GARD:0007672,GARD:0010729,Rare genetic disease +GARD:0022457,GARD:0022506,GARD:0019790,GARD:0022456,Rare hepatic disease +GARD:0022457,GARD:0022536,GARD:0020930,GARD:0010729,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022457,GARD:0022536,GARD:0007672,GARD:0022456,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022457,GARD:0022506,GARD:0019790,GARD:0010729,Rare hepatic disease +GARD:0022457,GARD:0022517,GARD:0020930,GARD:0007206,Rare respiratory disease +GARD:0022457,GARD:0022517,GARD:0020930,GARD:0010729,Rare respiratory disease +GARD:0022457,GARD:0022536,GARD:0020930,GARD:0022456,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022457,GARD:0022517,GARD:0020930,GARD:0022456,Rare respiratory disease +GARD:0022457,GARD:0022536,GARD:0020930,GARD:0007206,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022457,GARD:0022536,GARD:0022060,GARD:0007206,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022457,GARD:0022506,GARD:0019790,GARD:0007206,Rare hepatic disease +GARD:0022457,GARD:0022508,GARD:0007672,GARD:0007206,Rare inborn errors of metabolism +GARD:0022457,GARD:0022531,GARD:0020944,GARD:0022456,Rare genetic disease +GARD:0022457,GARD:0022536,GARD:0007672,GARD:0010729,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022457,GARD:0022531,GARD:0007672,GARD:0007206,Rare genetic disease +GARD:0022457,GARD:0022536,GARD:0022060,GARD:0022456,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022457,GARD:0022536,GARD:0007672,GARD:0007206,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022457,GARD:0022508,GARD:0007672,GARD:0022456,Rare inborn errors of metabolism +GARD:0022457,GARD:0022531,GARD:0019790,GARD:0022456,Rare genetic disease +GARD:0022457,GARD:0022531,GARD:0020944,GARD:0010729,Rare genetic disease +GARD:0022457,GARD:0022531,GARD:0019790,GARD:0010729,Rare genetic disease +GARD:0022457,GARD:0022508,GARD:0007672,GARD:0010729,Rare inborn errors of metabolism +GARD:0022457,GARD:0022531,GARD:0019790,GARD:0007206,Rare genetic disease +GARD:0022457,GARD:0022531,GARD:0020944,GARD:0007206,Rare genetic disease +GARD:0022457,GARD:0022531,GARD:0007672,GARD:0022456,Rare genetic disease +GARD:0022457,GARD:0022536,GARD:0022060,GARD:0010729,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022458,GARD:0022513,GARD:0019832,,Rare developmental defect during embryogenesis +GARD:0022458,GARD:0022524,GARD:0019832,,Rare neurologic disease +GARD:0022458,GARD:0022522,GARD:0018883,,Rare hematologic disease +GARD:0022458,GARD:0022536,GARD:0018883,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022458,GARD:0022531,GARD:0022441,,Rare genetic disease +GARD:0022459,GARD:0022531,GARD:0021018,GARD:0017362,Rare genetic disease +GARD:0022459,GARD:0022531,GARD:0021018,GARD:0006322,Rare genetic disease +GARD:0022459,GARD:0022531,GARD:0021018,GARD:0017156,Rare genetic disease +GARD:0022459,GARD:0022531,GARD:0021018,GARD:0013016,Rare genetic disease +GARD:0022459,GARD:0022531,GARD:0021018,GARD:0021129,Rare genetic disease +GARD:0022460,GARD:0022524,GARD:0018879,GARD:0007162,Rare neurologic disease +GARD:0022460,GARD:0022524,GARD:0018879,GARD:0019038,Rare neurologic disease +GARD:0022461,GARD:0022535,GARD:0019921,GARD:0001100,Rare neoplastic disease +GARD:0022461,GARD:0022531,GARD:0019921,GARD:0001100,Rare genetic disease +GARD:0022461,GARD:0022531,GARD:0019921,GARD:0017450,Rare genetic disease +GARD:0022461,GARD:0022531,GARD:0019921,GARD:0017899,Rare genetic disease +GARD:0022461,GARD:0022535,GARD:0019921,GARD:0010352,Rare neoplastic disease +GARD:0022461,GARD:0022535,GARD:0019921,GARD:0006902,Rare neoplastic disease +GARD:0022461,GARD:0022531,GARD:0019921,GARD:0006902,Rare genetic disease +GARD:0022461,GARD:0022535,GARD:0019921,GARD:0010955,Rare neoplastic disease +GARD:0022461,GARD:0022531,GARD:0019921,GARD:0022341,Rare genetic disease +GARD:0022461,GARD:0022535,GARD:0019921,GARD:0017450,Rare neoplastic disease +GARD:0022461,GARD:0022535,GARD:0019921,GARD:0017899,Rare neoplastic disease +GARD:0022461,GARD:0022535,GARD:0019921,GARD:0022341,Rare neoplastic disease +GARD:0022461,GARD:0022531,GARD:0019921,GARD:0010955,Rare genetic disease +GARD:0022461,GARD:0022531,GARD:0019921,GARD:0010352,Rare genetic disease +GARD:0022462,GARD:0022525,GARD:0021457,,Rare systemic or rheumatologic disease +GARD:0022462,GARD:0022523,GARD:0020026,,Rare immune disease +GARD:0022462,GARD:0022531,GARD:0021018,,Rare genetic disease +GARD:0022462,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0022462,GARD:0022531,GARD:0022488,,Rare genetic disease +GARD:0022463,GARD:0022531,GARD:0021957,,Rare genetic disease +GARD:0022463,GARD:0022525,GARD:0021957,,Rare systemic or rheumatologic disease +GARD:0022463,GARD:0022536,GARD:0020926,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022463,GARD:0022523,GARD:0021161,,Rare immune disease +GARD:0022463,GARD:0022510,GARD:0021162,,Rare skin disease +GARD:0022463,GARD:0022517,GARD:0020926,,Rare respiratory disease +GARD:0022463,GARD:0021079,GARD:0021986,,Rare systemic or rheumatological disease of childhood +GARD:0022463,GARD:0022531,GARD:0022488,,Rare genetic disease +GARD:0022463,GARD:0022531,GARD:0021161,,Rare genetic disease +GARD:0022464,GARD:0022523,GARD:0020321,,Rare immune disease +GARD:0022464,GARD:0022531,GARD:0020321,,Rare genetic disease +GARD:0022465,GARD:0022531,GARD:0020633,,Rare genetic disease +GARD:0022465,GARD:0022525,GARD:0021456,,Rare systemic or rheumatologic disease +GARD:0022465,GARD:0022531,GARD:0020116,,Rare genetic disease +GARD:0022465,GARD:0022523,GARD:0020116,,Rare immune disease +GARD:0022465,GARD:0022536,GARD:0020633,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022465,GARD:0022536,GARD:0020116,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022465,GARD:0022535,GARD:0020633,,Rare neoplastic disease +GARD:0022465,GARD:0022531,GARD:0021456,,Rare genetic disease +GARD:0022465,GARD:0021079,GARD:0021456,,Rare systemic or rheumatological disease of childhood +GARD:0022465,GARD:0022523,GARD:0020633,,Rare immune disease +GARD:0022466,GARD:0022523,GARD:0021161,,Rare immune disease +GARD:0022466,GARD:0022535,GARD:0020633,,Rare neoplastic disease +GARD:0022466,GARD:0022531,GARD:0021161,,Rare genetic disease +GARD:0022466,GARD:0022536,GARD:0020633,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022466,GARD:0022523,GARD:0020633,,Rare immune disease +GARD:0022466,GARD:0022531,GARD:0020633,,Rare genetic disease +GARD:0022467,GARD:0022523,GARD:0010956,,Rare immune disease +GARD:0022467,GARD:0022531,GARD:0010956,,Rare genetic disease +GARD:0022467,GARD:0022510,GARD:0019019,,Rare skin disease +GARD:0022468,GARD:0022531,GARD:0018890,,Rare genetic disease +GARD:0022468,GARD:0022524,GARD:0018890,,Rare neurologic disease +GARD:0022468,GARD:0022531,GARD:0018953,,Rare genetic disease +GARD:0022468,GARD:0022523,GARD:0021510,,Rare immune disease +GARD:0022468,GARD:0022508,GARD:0018953,,Rare inborn errors of metabolism +GARD:0022468,GARD:0022531,GARD:0021510,,Rare genetic disease +GARD:0022469,GARD:0022511,GARD:0019910,GARD:0022472,Rare bone disease +GARD:0022469,GARD:0022513,GARD:0019910,GARD:0022471,Rare developmental defect during embryogenesis +GARD:0022469,GARD:0022513,GARD:0019910,GARD:0022470,Rare developmental defect during embryogenesis +GARD:0022469,GARD:0022511,GARD:0019910,GARD:0022470,Rare bone disease +GARD:0022469,GARD:0022531,GARD:0019910,GARD:0022473,Rare genetic disease +GARD:0022469,GARD:0022531,GARD:0019910,GARD:0022470,Rare genetic disease +GARD:0022469,GARD:0022531,GARD:0019910,GARD:0016633,Rare genetic disease +GARD:0022469,GARD:0022531,GARD:0019910,GARD:0016626,Rare genetic disease +GARD:0022469,GARD:0022511,GARD:0019910,GARD:0016633,Rare bone disease +GARD:0022469,GARD:0022513,GARD:0019910,GARD:0016633,Rare developmental defect during embryogenesis +GARD:0022469,GARD:0022513,GARD:0019910,GARD:0022473,Rare developmental defect during embryogenesis +GARD:0022469,GARD:0022511,GARD:0019910,GARD:0016626,Rare bone disease +GARD:0022469,GARD:0022513,GARD:0019910,GARD:0022472,Rare developmental defect during embryogenesis +GARD:0022469,GARD:0022511,GARD:0019910,GARD:0022473,Rare bone disease +GARD:0022469,GARD:0022513,GARD:0019910,GARD:0016626,Rare developmental defect during embryogenesis +GARD:0022469,GARD:0022511,GARD:0019910,GARD:0022471,Rare bone disease +GARD:0022469,GARD:0022531,GARD:0019910,GARD:0022472,Rare genetic disease +GARD:0022469,GARD:0022531,GARD:0019910,GARD:0022471,Rare genetic disease +GARD:0022470,GARD:0022511,GARD:0022469,,Rare bone disease +GARD:0022470,GARD:0022513,GARD:0022469,,Rare developmental defect during embryogenesis +GARD:0022470,GARD:0022531,GARD:0022469,,Rare genetic disease +GARD:0022471,GARD:0022513,GARD:0022469,,Rare developmental defect during embryogenesis +GARD:0022471,GARD:0022511,GARD:0022469,,Rare bone disease +GARD:0022471,GARD:0022531,GARD:0022469,,Rare genetic disease +GARD:0022472,GARD:0022531,GARD:0022469,,Rare genetic disease +GARD:0022472,GARD:0022511,GARD:0022469,,Rare bone disease +GARD:0022472,GARD:0022513,GARD:0022469,,Rare developmental defect during embryogenesis +GARD:0022473,GARD:0022531,GARD:0022469,,Rare genetic disease +GARD:0022473,GARD:0022513,GARD:0022469,,Rare developmental defect during embryogenesis +GARD:0022473,GARD:0022511,GARD:0022469,,Rare bone disease +GARD:0022474,GARD:0022531,GARD:0019910,GARD:0022480,Rare genetic disease +GARD:0022474,GARD:0022511,GARD:0019910,GARD:0022478,Rare bone disease +GARD:0022474,GARD:0022531,GARD:0019910,GARD:0022476,Rare genetic disease +GARD:0022474,GARD:0022511,GARD:0019910,GARD:0022481,Rare bone disease +GARD:0022474,GARD:0022513,GARD:0019910,GARD:0001575,Rare developmental defect during embryogenesis +GARD:0022474,GARD:0022511,GARD:0019910,GARD:0001575,Rare bone disease +GARD:0022474,GARD:0022513,GARD:0019910,GARD:0022478,Rare developmental defect during embryogenesis +GARD:0022474,GARD:0022531,GARD:0019910,GARD:0022481,Rare genetic disease +GARD:0022474,GARD:0022531,GARD:0019910,GARD:0022475,Rare genetic disease +GARD:0022474,GARD:0022513,GARD:0019910,GARD:0022479,Rare developmental defect during embryogenesis +GARD:0022474,GARD:0022531,GARD:0019910,GARD:0022477,Rare genetic disease +GARD:0022474,GARD:0022511,GARD:0019910,GARD:0022480,Rare bone disease +GARD:0022474,GARD:0022513,GARD:0019910,GARD:0022481,Rare developmental defect during embryogenesis +GARD:0022474,GARD:0022511,GARD:0019910,GARD:0016634,Rare bone disease +GARD:0022474,GARD:0022511,GARD:0019910,GARD:0022475,Rare bone disease +GARD:0022474,GARD:0022511,GARD:0019910,GARD:0022476,Rare bone disease +GARD:0022474,GARD:0022531,GARD:0019910,GARD:0022478,Rare genetic disease +GARD:0022474,GARD:0022513,GARD:0019910,GARD:0022476,Rare developmental defect during embryogenesis +GARD:0022474,GARD:0022531,GARD:0019910,GARD:0001575,Rare genetic disease +GARD:0022474,GARD:0022511,GARD:0019910,GARD:0022479,Rare bone disease +GARD:0022474,GARD:0022531,GARD:0019910,GARD:0016634,Rare genetic disease +GARD:0022474,GARD:0022513,GARD:0019910,GARD:0016634,Rare developmental defect during embryogenesis +GARD:0022474,GARD:0022531,GARD:0019910,GARD:0022479,Rare genetic disease +GARD:0022474,GARD:0022513,GARD:0019910,GARD:0022475,Rare developmental defect during embryogenesis +GARD:0022474,GARD:0022513,GARD:0019910,GARD:0022477,Rare developmental defect during embryogenesis +GARD:0022474,GARD:0022513,GARD:0019910,GARD:0022480,Rare developmental defect during embryogenesis +GARD:0022474,GARD:0022511,GARD:0019910,GARD:0022477,Rare bone disease +GARD:0022475,GARD:0022511,GARD:0022474,,Rare bone disease +GARD:0022475,GARD:0022531,GARD:0022474,,Rare genetic disease +GARD:0022475,GARD:0022513,GARD:0022474,,Rare developmental defect during embryogenesis +GARD:0022476,GARD:0022531,GARD:0022474,,Rare genetic disease +GARD:0022476,GARD:0022511,GARD:0022474,,Rare bone disease +GARD:0022476,GARD:0022513,GARD:0022474,,Rare developmental defect during embryogenesis +GARD:0022477,GARD:0022511,GARD:0022474,,Rare bone disease +GARD:0022477,GARD:0022513,GARD:0022474,,Rare developmental defect during embryogenesis +GARD:0022477,GARD:0022531,GARD:0022474,,Rare genetic disease +GARD:0022478,GARD:0022513,GARD:0022474,,Rare developmental defect during embryogenesis +GARD:0022478,GARD:0022531,GARD:0022474,,Rare genetic disease +GARD:0022478,GARD:0022511,GARD:0022474,,Rare bone disease +GARD:0022479,GARD:0022513,GARD:0022474,,Rare developmental defect during embryogenesis +GARD:0022479,GARD:0022531,GARD:0022474,,Rare genetic disease +GARD:0022479,GARD:0022511,GARD:0022474,,Rare bone disease +GARD:0022480,GARD:0022513,GARD:0022474,,Rare developmental defect during embryogenesis +GARD:0022480,GARD:0022511,GARD:0022474,,Rare bone disease +GARD:0022480,GARD:0022531,GARD:0022474,,Rare genetic disease +GARD:0022481,GARD:0022531,GARD:0022474,,Rare genetic disease +GARD:0022481,GARD:0022513,GARD:0022474,,Rare developmental defect during embryogenesis +GARD:0022481,GARD:0022511,GARD:0022474,,Rare bone disease +GARD:0022482,GARD:0022531,GARD:0005893,,Rare genetic disease +GARD:0022482,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022482,GARD:0022512,GARD:0005893,,Rare renal disease +GARD:0022483,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022483,GARD:0022512,GARD:0005893,,Rare renal disease +GARD:0022483,GARD:0022531,GARD:0005893,,Rare genetic disease +GARD:0022484,GARD:0022531,GARD:0022440,,Rare genetic disease +GARD:0022484,GARD:0022513,GARD:0020650,,Rare developmental defect during embryogenesis +GARD:0022484,GARD:0022531,GARD:0021357,,Rare genetic disease +GARD:0022484,GARD:0022508,GARD:0021357,,Rare inborn errors of metabolism +GARD:0022484,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0022484,GARD:0022531,GARD:0020650,,Rare genetic disease +GARD:0022484,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0022484,GARD:0022521,GARD:0020650,,Rare endocrine disease +GARD:0022484,GARD:0022524,GARD:0022440,,Rare neurologic disease +GARD:0022485,GARD:0022531,GARD:0021357,,Rare genetic disease +GARD:0022485,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0022485,GARD:0022508,GARD:0021357,,Rare inborn errors of metabolism +GARD:0022485,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0022486,GARD:0022512,GARD:0019230,,Rare renal disease +GARD:0022486,GARD:0022531,GARD:0020306,,Rare genetic disease +GARD:0022486,GARD:0022512,GARD:0019229,,Rare renal disease +GARD:0022486,GARD:0022531,GARD:0020756,,Rare genetic disease +GARD:0022486,GARD:0022536,GARD:0022061,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022486,GARD:0022508,GARD:0020756,,Rare inborn errors of metabolism +GARD:0022486,GARD:0022531,GARD:0019229,,Rare genetic disease +GARD:0022487,GARD:0022531,GARD:0020944,,Rare genetic disease +GARD:0022487,GARD:0022531,GARD:0021960,,Rare genetic disease +GARD:0022487,GARD:0022524,GARD:0021960,,Rare neurologic disease +GARD:0022487,GARD:0022524,GARD:0020240,,Rare neurologic disease +GARD:0022487,GARD:0022517,GARD:0020925,,Rare respiratory disease +GARD:0022487,GARD:0022531,GARD:0020280,,Rare genetic disease +GARD:0022487,GARD:0022536,GARD:0020925,,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0012357,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0000521,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0010516,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0000304,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0010088,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0018014,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0017725,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0017213,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0017355,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0017679,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0022462,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0022463,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0008457,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0013824,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0010927,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0021315,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0017201,Rare genetic disease +GARD:0022488,GARD:0022531,GARD:0018877,GARD:0009176,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0019881,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0007475,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0020070,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0013073,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0012801,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0022016,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0010939,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0006202,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0010291,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0017916,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0006039,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0008501,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0004311,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0003856,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0013447,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0018813,Rare genetic disease +GARD:0022489,GARD:0022531,GARD:0020276,GARD:0002469,Rare genetic disease +GARD:0022490,GARD:0022518,GARD:0021130,,Rare surgical thoracic disease +GARD:0022490,GARD:0022531,GARD:0021130,,Rare genetic disease +GARD:0022490,GARD:0022525,GARD:0021129,,Rare systemic or rheumatologic disease +GARD:0022490,GARD:0022531,GARD:0022021,,Rare genetic disease +GARD:0022490,GARD:0022531,GARD:0021129,,Rare genetic disease +GARD:0022490,GARD:0022527,GARD:0021130,,Rare circulatory system disease +GARD:0022490,GARD:0022513,GARD:0022021,,Rare developmental defect during embryogenesis +GARD:0022490,GARD:0022511,GARD:0022021,,Rare bone disease +GARD:0022491,GARD:0022513,GARD:0019193,,Rare developmental defect during embryogenesis +GARD:0022491,GARD:0022511,GARD:0019193,,Rare bone disease +GARD:0022491,GARD:0022531,GARD:0019193,,Rare genetic disease +GARD:0022492,GARD:0022524,GARD:0011979,,Rare neurologic disease +GARD:0022493,GARD:0022524,GARD:0022494,,Rare neurologic disease +GARD:0022493,GARD:0022524,GARD:0007326,,Rare neurologic disease +GARD:0022494,GARD:0022524,GARD:0020656,GARD:0022503,Rare neurologic disease +GARD:0022494,GARD:0022524,GARD:0020656,GARD:0022493,Rare neurologic disease +GARD:0022494,GARD:0022524,GARD:0011979,GARD:0022502,Rare neurologic disease +GARD:0022494,GARD:0022524,GARD:0020656,GARD:0022502,Rare neurologic disease +GARD:0022494,GARD:0022524,GARD:0020656,GARD:0022504,Rare neurologic disease +GARD:0022494,GARD:0022524,GARD:0011979,GARD:0022504,Rare neurologic disease +GARD:0022494,GARD:0022524,GARD:0011979,GARD:0022493,Rare neurologic disease +GARD:0022494,GARD:0022524,GARD:0011979,GARD:0022503,Rare neurologic disease +GARD:0022495,GARD:0022513,GARD:0019194,,Rare developmental defect during embryogenesis +GARD:0022495,GARD:0022511,GARD:0019194,,Rare bone disease +GARD:0022495,GARD:0022531,GARD:0019194,,Rare genetic disease +GARD:0022496,GARD:0022524,GARD:0019389,,Rare neurologic disease +GARD:0022497,GARD:0022524,GARD:0011979,,Rare neurologic disease +GARD:0022497,GARD:0022524,GARD:0020090,,Rare neurologic disease +GARD:0022498,GARD:0022524,GARD:0011979,,Rare neurologic disease +GARD:0022498,GARD:0022524,GARD:0020090,,Rare neurologic disease +GARD:0022499,GARD:0022524,GARD:0011979,,Rare neurologic disease +GARD:0022499,GARD:0022524,GARD:0007326,,Rare neurologic disease +GARD:0022500,GARD:0022524,GARD:0011979,,Rare neurologic disease +GARD:0022501,GARD:0022524,GARD:0011979,,Rare neurologic disease +GARD:0022502,GARD:0022524,GARD:0022494,,Rare neurologic disease +GARD:0022503,GARD:0022524,GARD:0022494,,Rare neurologic disease +GARD:0022504,GARD:0022524,GARD:0022494,,Rare neurologic disease +GARD:0022505,GARD:0022505,,GARD:0020626,Rare teratologic disease +GARD:0022505,GARD:0022505,,GARD:0020702,Rare teratologic disease +GARD:0022505,GARD:0022513,GARD:0022513,GARD:0020701,Rare developmental defect during embryogenesis +GARD:0022505,GARD:0022513,GARD:0022513,GARD:0020702,Rare developmental defect during embryogenesis +GARD:0022505,GARD:0022513,GARD:0022513,GARD:0020626,Rare developmental defect during embryogenesis +GARD:0022505,GARD:0022505,,GARD:0020701,Rare teratologic disease +GARD:0022506,GARD:0022506,,GARD:0019791,Rare hepatic disease +GARD:0022506,GARD:0022506,,GARD:0000370,Rare hepatic disease +GARD:0022506,GARD:0022506,,GARD:0019112,Rare hepatic disease +GARD:0022506,GARD:0022506,,GARD:0021716,Rare hepatic disease +GARD:0022506,GARD:0022506,,GARD:0019117,Rare hepatic disease +GARD:0022506,GARD:0022506,,GARD:0019788,Rare hepatic disease +GARD:0022506,GARD:0022506,,GARD:0019106,Rare hepatic disease +GARD:0022506,GARD:0022506,,GARD:0019792,Rare hepatic disease +GARD:0022506,GARD:0022506,,GARD:0019790,Rare hepatic disease +GARD:0022506,GARD:0022506,,GARD:0017279,Rare hepatic disease +GARD:0022506,GARD:0022506,,GARD:0002791,Rare hepatic disease +GARD:0022506,GARD:0022506,,GARD:0019789,Rare hepatic disease +GARD:0022507,GARD:0022507,,GARD:0019979,Rare maxillo-facial surgical disease +GARD:0022507,GARD:0022507,,GARD:0020451,Rare maxillo-facial surgical disease +GARD:0022507,GARD:0022507,,GARD:0019964,Rare maxillo-facial surgical disease +GARD:0022507,GARD:0022507,,GARD:0001896,Rare maxillo-facial surgical disease +GARD:0022507,GARD:0022507,,GARD:0018754,Rare maxillo-facial surgical disease +GARD:0022507,GARD:0022507,,GARD:0003342,Rare maxillo-facial surgical disease +GARD:0022507,GARD:0022507,,GARD:0019995,Rare maxillo-facial surgical disease +GARD:0022507,GARD:0022507,,GARD:0019998,Rare maxillo-facial surgical disease +GARD:0022507,GARD:0022507,,GARD:0021255,Rare maxillo-facial surgical disease +GARD:0022507,GARD:0022507,,GARD:0019997,Rare maxillo-facial surgical disease +GARD:0022507,GARD:0022507,,GARD:0007264,Rare maxillo-facial surgical disease +GARD:0022508,GARD:0022531,GARD:0022531,GARD:0021314,Rare genetic disease +GARD:0022508,GARD:0022531,GARD:0022531,GARD:0018937,Rare genetic disease +GARD:0022508,GARD:0022508,,GARD:0018946,Rare inborn errors of metabolism +GARD:0022508,GARD:0022508,,GARD:0018884,Rare inborn errors of metabolism +GARD:0022508,GARD:0022508,,GARD:0018976,Rare inborn errors of metabolism +GARD:0022508,GARD:0022531,GARD:0022531,GARD:0019152,Rare genetic disease +GARD:0022508,GARD:0022531,GARD:0022531,GARD:0010307,Rare genetic disease +GARD:0022508,GARD:0022531,GARD:0022531,GARD:0018980,Rare genetic disease +GARD:0022508,GARD:0022531,GARD:0022531,GARD:0018946,Rare genetic disease +GARD:0022508,GARD:0022508,,GARD:0018980,Rare inborn errors of metabolism +GARD:0022508,GARD:0022508,,GARD:0018885,Rare inborn errors of metabolism +GARD:0022508,GARD:0022508,,GARD:0021334,Rare inborn errors of metabolism +GARD:0022508,GARD:0022508,,GARD:0021314,Rare inborn errors of metabolism +GARD:0022508,GARD:0022531,GARD:0022531,GARD:0021346,Rare genetic disease +GARD:0022508,GARD:0022531,GARD:0022531,GARD:0021349,Rare genetic disease +GARD:0022508,GARD:0022531,GARD:0022531,GARD:0021334,Rare genetic disease +GARD:0022508,GARD:0022531,GARD:0022531,GARD:0018884,Rare genetic disease +GARD:0022508,GARD:0022531,GARD:0022531,GARD:0018972,Rare genetic disease +GARD:0022508,GARD:0022531,GARD:0022531,GARD:0018976,Rare genetic disease +GARD:0022508,GARD:0022531,GARD:0022531,GARD:0018885,Rare genetic disease +GARD:0022508,GARD:0022508,,GARD:0019152,Rare inborn errors of metabolism +GARD:0022508,GARD:0022508,,GARD:0021349,Rare inborn errors of metabolism +GARD:0022508,GARD:0022508,,GARD:0010307,Rare inborn errors of metabolism +GARD:0022508,GARD:0022508,,GARD:0021346,Rare inborn errors of metabolism +GARD:0022508,GARD:0022508,,GARD:0018972,Rare inborn errors of metabolism +GARD:0022508,GARD:0022508,,GARD:0018937,Rare inborn errors of metabolism +GARD:0022509,GARD:0022509,,GARD:0020044,Rare infectious disease +GARD:0022509,GARD:0022509,,GARD:0020046,Rare infectious disease +GARD:0022509,GARD:0022509,,GARD:0020047,Rare infectious disease +GARD:0022509,GARD:0022509,,GARD:0020626,Rare infectious disease +GARD:0022509,GARD:0022509,,GARD:0020045,Rare infectious disease +GARD:0022510,GARD:0022510,,GARD:0018932,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0021400,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0021160,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0019006,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0018984,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0018993,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0019017,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0019119,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0019003,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0019012,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0019014,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0021171,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0019019,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0019015,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0019018,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0019013,Rare skin disease +GARD:0022510,GARD:0022510,,GARD:0019011,Rare skin disease +GARD:0022511,GARD:0022511,,GARD:0009652,Rare bone disease +GARD:0022511,GARD:0022511,,GARD:0021233,Rare bone disease +GARD:0022511,GARD:0022511,,GARD:0020629,Rare bone disease +GARD:0022511,GARD:0022511,,GARD:0018892,Rare bone disease +GARD:0022511,GARD:0022511,,GARD:0021567,Rare bone disease +GARD:0022511,GARD:0022511,,GARD:0021571,Rare bone disease +GARD:0022511,GARD:0022511,,GARD:0019203,Rare bone disease +GARD:0022511,GARD:0022511,,GARD:0021657,Rare bone disease +GARD:0022512,GARD:0022512,,GARD:0019216,Rare renal disease +GARD:0022512,GARD:0022512,,GARD:0019227,Rare renal disease +GARD:0022512,GARD:0022512,,GARD:0019228,Rare renal disease +GARD:0022512,GARD:0022512,,GARD:0019230,Rare renal disease +GARD:0022512,GARD:0022512,,GARD:0021420,Rare renal disease +GARD:0022512,GARD:0022512,,GARD:0019229,Rare renal disease +GARD:0022512,GARD:0022512,,GARD:0020948,Rare renal disease +GARD:0022512,GARD:0022512,,GARD:0019233,Rare renal disease +GARD:0022512,GARD:0022512,,GARD:0019232,Rare renal disease +GARD:0022512,GARD:0022512,,GARD:0019231,Rare renal disease +GARD:0022512,GARD:0022512,,GARD:0012736,Rare renal disease +GARD:0022513,GARD:0022513,,GARD:0019904,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019029,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019909,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019901,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019431,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019145,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0018894,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019392,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019390,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0018874,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019907,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0022505,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0018876,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019902,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019906,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019391,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019900,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0018886,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019394,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019147,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0022519,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019972,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019395,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0002783,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0016857,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019216,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019393,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019903,Rare developmental defect during embryogenesis +GARD:0022513,GARD:0022513,,GARD:0019905,Rare developmental defect during embryogenesis +GARD:0022514,GARD:0022514,,GARD:0020200,Rare gynecologic or obstetric disease +GARD:0022514,GARD:0022514,,GARD:0020188,Rare gynecologic or obstetric disease +GARD:0022514,GARD:0022514,,GARD:0021477,Rare gynecologic or obstetric disease +GARD:0022514,GARD:0022514,,GARD:0020049,Rare gynecologic or obstetric disease +GARD:0022514,GARD:0022514,,GARD:0020192,Rare gynecologic or obstetric disease +GARD:0022514,GARD:0022514,,GARD:0019407,Rare gynecologic or obstetric disease +GARD:0022514,GARD:0022514,,GARD:0020197,Rare gynecologic or obstetric disease +GARD:0022514,GARD:0022514,,GARD:0020170,Rare gynecologic or obstetric disease +GARD:0022515,GARD:0022515,,GARD:0020898,Rare cardiac disease +GARD:0022515,GARD:0022515,,GARD:0019362,Rare cardiac disease +GARD:0022515,GARD:0022515,,GARD:0020536,Rare cardiac disease +GARD:0022515,GARD:0022515,,GARD:0020096,Rare cardiac disease +GARD:0022515,GARD:0022515,,GARD:0021555,Rare cardiac disease +GARD:0022515,GARD:0022515,,GARD:0020097,Rare cardiac disease +GARD:0022515,GARD:0022515,,GARD:0022267,Rare cardiac disease +GARD:0022516,GARD:0022516,,GARD:0021237,Rare gastroenterologic disease +GARD:0022516,GARD:0022516,,GARD:0019873,Rare gastroenterologic disease +GARD:0022516,GARD:0022516,,GARD:0019787,Rare gastroenterologic disease +GARD:0022516,GARD:0022516,,GARD:0020905,Rare gastroenterologic disease +GARD:0022516,GARD:0022516,,GARD:0019786,Rare gastroenterologic disease +GARD:0022516,GARD:0022516,,GARD:0021042,Rare gastroenterologic disease +GARD:0022516,GARD:0022516,,GARD:0022338,Rare gastroenterologic disease +GARD:0022516,GARD:0022516,,GARD:0021714,Rare gastroenterologic disease +GARD:0022516,GARD:0022516,,GARD:0021793,Rare gastroenterologic disease +GARD:0022517,GARD:0022517,,GARD:0019793,Rare respiratory disease +GARD:0022517,GARD:0022517,,GARD:0019404,Rare respiratory disease +GARD:0022517,GARD:0022517,,GARD:0003793,Rare respiratory disease +GARD:0022517,GARD:0022517,,GARD:0011894,Rare respiratory disease +GARD:0022517,GARD:0022517,,GARD:0018904,Rare respiratory disease +GARD:0022517,GARD:0022517,,GARD:0021159,Rare respiratory disease +GARD:0022517,GARD:0022517,,GARD:0019385,Rare respiratory disease +GARD:0022517,GARD:0022517,,GARD:0008337,Rare respiratory disease +GARD:0022518,GARD:0022518,,GARD:0021130,Rare surgical thoracic disease +GARD:0022518,GARD:0022518,,GARD:0020211,Rare surgical thoracic disease +GARD:0022518,GARD:0022518,,GARD:0019867,Rare surgical thoracic disease +GARD:0022518,GARD:0022518,,GARD:0019868,Rare surgical thoracic disease +GARD:0022518,GARD:0022518,,GARD:0020212,Rare surgical thoracic disease +GARD:0022518,GARD:0022518,,GARD:0007759,Rare surgical thoracic disease +GARD:0022519,GARD:0022513,GARD:0022513,GARD:0020003,Rare developmental defect during embryogenesis +GARD:0022519,GARD:0022519,,GARD:0020003,Rare surgical cardiac disease +GARD:0022519,GARD:0022513,GARD:0022513,GARD:0019094,Rare developmental defect during embryogenesis +GARD:0022519,GARD:0022519,,GARD:0019094,Rare surgical cardiac disease +GARD:0022520,GARD:0022520,,GARD:0019514,Rare ophthalmic disorder +GARD:0022520,GARD:0022520,,GARD:0022135,Rare ophthalmic disorder +GARD:0022520,GARD:0022520,,GARD:0019795,Rare ophthalmic disorder +GARD:0022520,GARD:0022520,,GARD:0019537,Rare ophthalmic disorder +GARD:0022521,GARD:0022521,,GARD:0020218,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0019798,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0009316,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0018935,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0021849,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0012596,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0018893,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0019146,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0019800,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0019147,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0020233,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0016548,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0019797,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0017352,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0019796,Rare endocrine disease +GARD:0022521,GARD:0022521,,GARD:0019799,Rare endocrine disease +GARD:0022522,GARD:0022522,,GARD:0022311,Rare hematologic disease +GARD:0022522,GARD:0022522,,GARD:0021887,Rare hematologic disease +GARD:0022522,GARD:0022522,,GARD:0017748,Rare hematologic disease +GARD:0022522,GARD:0022522,,GARD:0022445,Rare hematologic disease +GARD:0022522,GARD:0022522,,GARD:0019468,Rare hematologic disease +GARD:0022522,GARD:0022522,,GARD:0019466,Rare hematologic disease +GARD:0022522,GARD:0022522,,GARD:0019869,Rare hematologic disease +GARD:0022522,GARD:0022522,,GARD:0013056,Rare hematologic disease +GARD:0022522,GARD:0022522,,GARD:0018878,Rare hematologic disease +GARD:0022523,GARD:0022523,,GARD:0020024,Rare immune disease +GARD:0022523,GARD:0022523,,GARD:0000325,Rare immune disease +GARD:0022523,GARD:0022523,,GARD:0016642,Rare immune disease +GARD:0022523,GARD:0022523,,GARD:0019813,Rare immune disease +GARD:0022523,GARD:0022523,,GARD:0000730,Rare immune disease +GARD:0022523,GARD:0022523,,GARD:0017287,Rare immune disease +GARD:0022523,GARD:0022523,,GARD:0021359,Rare immune disease +GARD:0022524,GARD:0022524,,GARD:0008333,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0005070,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0007326,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0019389,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0019816,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0017082,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0018879,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0005839,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0019476,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0017109,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0022201,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0019109,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0019386,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0019817,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0017875,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0006895,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0019892,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0022141,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0019406,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0020446,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0021937,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0020742,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0002347,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0004647,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0006919,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0019387,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0020240,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0020239,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0019090,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0020455,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0019108,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0019815,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0019814,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0021045,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0018888,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0022438,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0018890,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0004815,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0021754,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0012854,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0021649,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0021558,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0005598,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0019394,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0018911,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0009258,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0008660,Rare neurologic disease +GARD:0022524,GARD:0022524,,GARD:0004561,Rare neurologic disease +GARD:0022525,GARD:0022525,,GARD:0018844,Rare systemic or rheumatologic disease +GARD:0022525,GARD:0022525,,GARD:0018701,Rare systemic or rheumatologic disease +GARD:0022525,GARD:0022525,,GARD:0020255,Rare systemic or rheumatologic disease +GARD:0022525,GARD:0022525,,GARD:0020257,Rare systemic or rheumatologic disease +GARD:0022526,GARD:0022526,,GARD:0019909,Rare odontologic disease +GARD:0022526,GARD:0022526,,GARD:0020055,Rare odontologic disease +GARD:0022526,GARD:0022526,,GARD:0019388,Rare odontologic disease +GARD:0022526,GARD:0022526,,GARD:0021370,Rare odontologic disease +GARD:0022527,GARD:0022527,,GARD:0018894,Rare circulatory system disease +GARD:0022527,GARD:0022527,,GARD:0018881,Rare circulatory system disease +GARD:0022527,GARD:0022527,,GARD:0019232,Rare circulatory system disease +GARD:0022528,GARD:0022528,,GARD:0018880,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0021886,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0007043,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0002254,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0017937,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0019998,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0006959,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0018910,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0019405,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0000111,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0009486,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0020124,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0021884,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0001421,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0019350,Rare otorhinolaryngologic disease +GARD:0022528,GARD:0022528,,GARD:0021745,Rare otorhinolaryngologic disease +GARD:0022529,GARD:0022529,,GARD:0019396,Rare infertility +GARD:0022529,GARD:0022529,,GARD:0019397,Rare infertility +GARD:0022530,GARD:0022530,,GARD:0017594,Rare allergic disease +GARD:0022530,GARD:0022530,,GARD:0018701,Rare allergic disease +GARD:0022530,GARD:0022530,,GARD:0019398,Rare allergic disease +GARD:0022530,GARD:0022530,,GARD:0019012,Rare allergic disease +GARD:0022531,GARD:0022531,,GARD:0020288,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0021021,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0020007,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0020683,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0019921,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0019444,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0020030,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0021018,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0018875,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0020628,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0021544,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0021935,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0010238,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0008241,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0018877,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0022508,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0022213,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0021873,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0018874,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0019399,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0020059,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0018915,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0019782,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0020323,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0020004,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0020290,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0020008,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0019400,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0020327,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0018936,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0020011,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0019769,Rare genetic disease +GARD:0022531,GARD:0022531,,GARD:0005979,Rare genetic disease +GARD:0022532,GARD:0022532,,GARD:0019047,Rare urogenital disease +GARD:0022532,GARD:0022532,,GARD:0002365,Rare urogenital disease +GARD:0022532,GARD:0022532,,GARD:0020250,Rare urogenital disease +GARD:0022532,GARD:0022532,,GARD:0012811,Rare urogenital disease +GARD:0022532,GARD:0022532,,GARD:0019029,Rare urogenital disease +GARD:0022532,GARD:0022532,,GARD:0019933,Rare urogenital disease +GARD:0022532,GARD:0022532,,GARD:0018825,Rare urogenital disease +GARD:0022532,GARD:0022532,,GARD:0019147,Rare urogenital disease +GARD:0022533,GARD:0022533,,GARD:0022139,Rare disorder due to toxic effects +GARD:0022533,GARD:0022533,,GARD:0022245,Rare disorder due to toxic effects +GARD:0022533,GARD:0022533,,GARD:0021258,Rare disorder due to toxic effects +GARD:0022533,GARD:0022533,,GARD:0020701,Rare disorder due to toxic effects +GARD:0022534,GARD:0022534,,GARD:0010460,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0011971,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0017411,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0012308,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0021883,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0021255,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0019393,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0019392,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0004204,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0009568,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0019391,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0020100,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0001359,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0020568,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0008169,Rare abdominal surgical disease +GARD:0022534,GARD:0022534,,GARD:0007712,Rare abdominal surgical disease +GARD:0022535,GARD:0022535,,GARD:0019921,Rare neoplastic disease +GARD:0022535,GARD:0022535,,GARD:0019401,Rare neoplastic disease +GARD:0022536,GARD:0022536,,GARD:0016642,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022536,GARD:0022536,,GARD:0020651,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022536,GARD:0022536,,GARD:0019106,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022536,GARD:0022536,,GARD:0022059,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022536,GARD:0022536,,GARD:0020051,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022536,GARD:0022536,,GARD:0021259,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022536,GARD:0022536,,GARD:0019117,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022536,GARD:0022536,,GARD:0019107,Rare disorder potentially indicated for transplant or complication after transplantation +GARD:0022537,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022537,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022538,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022538,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022539,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022539,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022540,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022540,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022541,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022541,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022542,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022542,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022543,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022543,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022544,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022544,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022545,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022545,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022546,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022546,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022547,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022547,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022548,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022548,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022549,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022549,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022550,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022550,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022551,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022551,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022552,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022552,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022553,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022553,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022554,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022554,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022555,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022555,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022556,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022556,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022557,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022557,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022558,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022558,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022559,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022559,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022560,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022560,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022561,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022561,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022562,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022562,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022563,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022563,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022564,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022564,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022565,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022565,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022566,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022566,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022567,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022567,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022568,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022568,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022569,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022569,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022570,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022570,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022571,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022571,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022572,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022572,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022573,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022573,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022574,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022574,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022575,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022575,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022576,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022576,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022577,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022577,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022578,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022578,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022579,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022579,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022580,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022580,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022581,GARD:0022524,GARD:0018643,,Rare neurologic disease +GARD:0022581,GARD:0022531,GARD:0018643,,Rare genetic disease +GARD:0022582,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022582,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022583,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022583,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022584,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022584,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022585,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022585,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022586,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022586,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022587,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022587,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022588,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022588,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022589,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022589,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022590,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022590,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022591,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022591,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022592,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022592,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022593,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022593,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022594,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022594,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022595,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022595,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022596,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022596,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022597,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022597,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022598,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022598,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022599,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022599,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022600,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022600,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022601,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022601,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022602,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022602,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022603,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022603,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022604,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022604,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022605,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022605,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022606,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022606,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022607,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022607,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022608,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022608,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022609,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022609,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022610,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022610,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022611,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022611,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022612,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022612,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022613,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022613,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022614,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022614,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022615,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022615,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022616,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022616,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022617,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022617,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022618,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022618,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022619,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022619,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022620,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022620,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022621,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022621,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022622,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022622,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022623,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022623,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022624,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022624,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022625,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022625,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022626,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022626,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022627,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022627,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022628,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022628,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022629,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022629,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022630,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022630,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022631,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022631,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022632,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022632,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022633,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022633,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022634,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022634,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022635,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022635,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022636,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022636,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022637,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022637,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022638,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022638,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022639,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022639,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022640,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022640,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022641,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022641,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022642,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022642,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022643,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022643,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022644,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022644,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022645,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022645,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022646,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022646,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022647,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022647,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022648,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022648,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022649,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022649,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022650,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022650,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022651,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022651,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022652,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022652,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022653,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022653,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022654,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022654,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022655,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022655,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022656,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022656,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022657,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022657,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022658,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022658,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022659,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022659,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022660,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022660,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022661,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022661,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022662,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022662,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022663,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022663,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022664,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022664,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022665,GARD:0022528,GARD:0018644,,Rare otorhinolaryngologic disease +GARD:0022665,GARD:0022531,GARD:0018644,,Rare genetic disease +GARD:0022666,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022666,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022667,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022667,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022668,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022668,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022669,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022669,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022670,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022670,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022671,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022671,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022672,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022672,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022673,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022673,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022674,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022674,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022675,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022675,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022676,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022676,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022677,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022677,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022678,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022678,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022679,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022679,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022680,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022680,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022681,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022681,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022682,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022682,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022683,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022683,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022684,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022684,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022685,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022685,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022686,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022686,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022687,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022687,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022688,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022688,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022689,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022689,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022690,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022690,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022691,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022691,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022692,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022692,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022693,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022693,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022694,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022694,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022695,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022695,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022696,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022696,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022697,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022697,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022698,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022698,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022699,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022699,GARD:0022531,GARD:0018640,,Rare genetic disease +GARD:0022700,GARD:0022524,GARD:0018640,,Rare neurologic disease +GARD:0022700,GARD:0022531,GARD:0018640,,Rare genetic disease diff --git a/RDAS.GARD/src/GARD_genes.csv b/RDAS.GARD/src/GARD_genes.csv new file mode 100644 index 0000000..3577d39 --- /dev/null +++ b/RDAS.GARD/src/GARD_genes.csv @@ -0,0 +1,10439 @@ +GardID,DataSource,SourceID,SourceLabelID,GeneCount,GeneSymbol,GeneSynonym,GeneTitle,GeneType,Locus,AssociationType,AssociationStatus,Reference,OMIM,Ensembl,IUPHAR,SwissProt,Reactome,GeneIdentifier +GARD:0010947,Orphanet,178338,ORPHA:178338,3,UVSSA,,UV stimulated scaffold protein A,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:22466610, PMID:22466611, PMID:22466612]",614632,ENSG00000163945,,Q2YD98,Q2YD98,HGNC:29304 +GARD:0010947,Orphanet,178338,ORPHA:178338,3,ERCC8,[CSA],"ERCC excision repair 8, CSA ubiquitin ligase complex subunit",gene with protein product,5q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19329487],609412,ENSG00000049167,,Q13216,Q13216,HGNC:3439 +GARD:0010947,Orphanet,178338,ORPHA:178338,3,ERCC6,"[ARMD5, CSB, Cockayne syndrome B protein, RAD26]","ERCC excision repair 6, chromatin remodeling factor",gene with protein product,10q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:15486090],609413,ENSG00000225830,,Q03468,Q03468,HGNC:3438 +GARD:0010954,Orphanet,6,ORPHA:6,2,MCCC2,"[3-methylcrotonyl-CoA carboxylase non-biotin containing subunit, MCCB, MCCCß, methylcrotonoyl-CoA carboxylase beta]",methylcrotonyl-CoA carboxylase subunit 2,gene with protein product,5q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22264772, PMID:22642865]",609014,ENSG00000131844,,Q9HCC0,Q9HCC0,HGNC:6937 +GARD:0010954,Orphanet,6,ORPHA:6,2,MCCC1,"[3-methylcrotonyl-CoA carboxylase biotin containing subunit, MCCA, MCCCa, methylcrotonoyl-CoA carboxylase alpha]",methylcrotonyl-CoA carboxylase subunit 1,gene with protein product,3q27.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:22264772, PMID:22642865]",609010,ENSG00000078070,,Q96RQ3,Q96RQ3,HGNC:6936 +GARD:0010955,Orphanet,648,ORPHA:648,14,PTPN11,"[BPTP3, PTP2C, SH-PTP2, SH2 domain-containing protein tyrosine phosphatase 2, SHP-2, SHP2]",protein tyrosine phosphatase non-receptor type 11,gene with protein product,12q24.13,Disease-causing germline mutation(s) in,Assessed,[PMID:19760651],176876,ENSG00000179295,,Q06124,Q06124,HGNC:9644 +GARD:0010955,Orphanet,648,ORPHA:648,14,SOS2,,SOS Ras/Rho guanine nucleotide exchange factor 2,gene with protein product,14q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25795793],601247,ENSG00000100485,,Q07890,Q07890,HGNC:11188 +GARD:0010955,Orphanet,648,ORPHA:648,14,RRAS,"[Oncogene RRAS, R-Ras]",RAS related,gene with protein product,19q13.33,Candidate gene tested in,Not yet assessed,[PMID:24705357],165090,ENSG00000126458,,P10301,P10301,HGNC:10447 +GARD:0010955,Orphanet,648,ORPHA:648,14,KRAS,"[K-Ras4B, KRAS1]","KRAS proto-oncogene, GTPase",gene with protein product,12p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16773572],190070,ENSG00000133703,2824,P01116,P01116,HGNC:6407 +GARD:0010955,Orphanet,648,ORPHA:648,14,CBL,"[RNF55, c-Cbl, oncogene CBL2]",Cbl proto-oncogene,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25952305],165360,ENSG00000110395,,P22681,P22681,HGNC:1541 +GARD:0010955,Orphanet,648,ORPHA:648,14,NRAS,[N-ras],"NRAS proto-oncogene, GTPase",gene with protein product,1p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:19966803],164790,ENSG00000213281,2823,P01111,P01111,HGNC:7989 +GARD:0010955,Orphanet,648,ORPHA:648,14,LZTR1,"[BTBD29, LZTR-1]",leucine zipper like transcription regulator 1,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:25795793],600574,ENSG00000099949,,Q8N653,,HGNC:6742 +GARD:0010955,Orphanet,648,ORPHA:648,14,MRAS,"[M-RAs, R-RAS3, RRAS3]",muscle RAS oncogene homolog,gene with protein product,3q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28289718],608435,ENSG00000158186,,O14807,,HGNC:7227 +GARD:0010955,Orphanet,648,ORPHA:648,14,RAF1,"[C-Raf proto-oncogene, serine/threonine kinase, CRAF, Raf-1, c-Raf]","Raf-1 proto-oncogene, serine/threonine kinase",gene with protein product,3p25.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:17603483],164760,ENSG00000132155,2184,P04049,P04049,HGNC:9829 +GARD:0010955,Orphanet,648,ORPHA:648,14,RIT1,"[GTP-binding protein Roc1, MGC125864, MGC125865, RIBB, ROC1, Ric-like, expressed in many tissues]",Ras like without CAAX 1,gene with protein product,1q22,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23791108],609591,ENSG00000143622,,Q92963,Q92963,HGNC:10023 +GARD:0010955,Orphanet,648,ORPHA:648,14,SPRED2,,sprouty related EVH1 domain containing 2,gene with protein product,2p14,Disease-causing germline mutation(s) in,Assessed,[PMID:34626534],609292,ENSG00000198369,,Q7Z698,,HGNC:17722 +GARD:0010955,Orphanet,648,ORPHA:648,14,RASA2,[GAP1M],RAS p21 protein activator 2,gene with protein product,3q23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25049390],601589,ENSG00000155903,,Q15283,Q15283,HGNC:9872 +GARD:0010955,Orphanet,648,ORPHA:648,14,RRAS2,[TC21],RAS related 2,gene with protein product,11p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31130285],600098,ENSG00000133818,,P62070,,HGNC:17271 +GARD:0010955,Orphanet,648,ORPHA:648,14,SOS1,"[GF1, HGF]",SOS Ras/Rac guanine nucleotide exchange factor 1,gene with protein product,2p22.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:17143285],182530,ENSG00000115904,3096,Q07889,Q07889,HGNC:11187 +GARD:0010957,Orphanet,209981,ORPHA:209981,1,TMPRSS6,"[FLJ30744, MT2, matriptase-2]",transmembrane serine protease 6,gene with protein product,22q12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19357398, PMID:20232450, PMID:25252070]",609862,ENSG00000187045,2422,Q8IU80,Q8IU80,HGNC:16517 +GARD:0010959,Orphanet,314777,ORPHA:314777,2,CDH23,"[CDHR23, cadherin-related family member 23]",cadherin related 23,gene with protein product,10q22.1,Major susceptibility factor in,Assessed,[PMID:28413019],605516,ENSG00000107736,,Q9H251,,HGNC:13733 +GARD:0010959,Orphanet,314777,ORPHA:314777,2,AIP,"[ARA9, Ah receptor activated 9, FK506-binding protein 37, FKBP prolyl isomerase 16, FKBP16, FKBP37, X-associated protein-2, XAP2, aryl hydrocarbon receptor-associated protein 9, hepatitis B virus X-associated cellular protein 2]",aryl hydrocarbon receptor interacting protein,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22720333],605555,ENSG00000110711,,O00170,O00170,HGNC:358 +GARD:0010965,Orphanet,313855,ORPHA:313855,1,FGFR2,"[CD332, CEK3, Crouzon syndrome, ECT1, K-SAM, Pfeiffer syndrome, TK14, TK25]",fibroblast growth factor receptor 2,gene with protein product,10q26.13,Disease-causing germline mutation(s) in,Assessed,[PMID:22387015],176943,ENSG00000066468,1809,P21802,P21802,HGNC:3689 +GARD:0010966,Orphanet,85414,ORPHA:85414,4,IL6,"[BSF2, HGF, HSF, IL-6, interferon, beta 2]",interleukin 6,gene with protein product,7p15.3,Major susceptibility factor in,Not yet assessed,,147620,ENSG00000136244,,P05231,P05231,HGNC:6018 +GARD:0010966,Orphanet,85414,ORPHA:85414,4,LACC1,"[FAMIN, FLJ38725, fatty acid metabolism–immunity nexus]",laccase domain containing 1,gene with protein product,13q14.11,Disease-causing germline mutation(s) in,Assessed,[PMID:25220867],613409,ENSG00000179630,,Q8IV20,,HGNC:26789 +GARD:0010966,Orphanet,85414,ORPHA:85414,4,MIF,"[GIF, glycosylation-inhibiting factor, phenylpyruvate tautomerase]",macrophage migration inhibitory factor,gene with protein product,22q11.23,Major susceptibility factor in,Not yet assessed,,153620,ENSG00000240972,,P14174,P14174,HGNC:7097 +GARD:0010966,Orphanet,85414,ORPHA:85414,4,HLA-DRB1,,"major histocompatibility complex, class II, DR beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Not yet assessed,[PMID:26598658],142857,ENSG00000196126,,P01911,P04229,HGNC:4948 +GARD:0010974,Orphanet+OMIM,609634,OMIM:609634,1,SCN1A,"[GEFSP2, HBSCI, NAC1, Nav1.1, SMEI]",sodium voltage-gated channel alpha subunit 1,gene with protein product,2q24.3,The molecular basis of the disorder is known,Unknown,,182389,ENSG00000144285,objectId:578,P35498,P35498,HGNC:10585 +GARD:0010981,Orphanet,313808,ORPHA:313808,2,AARS2,"[KIAA1270, alanine tRNA ligase 2, mitochondrial, bA444E17.1]","alanyl-tRNA synthetase 2, mitochondrial",gene with protein product,6p21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27749956],612035,ENSG00000124608,,Q5JTZ9,Q5JTZ9,HGNC:21022 +GARD:0010981,Orphanet,313808,ORPHA:313808,2,CSF1R,"[C-FMS, CD115, CSFR]",colony stimulating factor 1 receptor,gene with protein product,5q32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22197934],164770,ENSG00000182578,1806,P07333,P07333,HGNC:2433 +GARD:0010983,Orphanet,79152,ORPHA:79152,4,FDPS,"[farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase]",farnesyl diphosphate synthase,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:26202976],134629,ENSG00000160752,644,P14324,P14324,HGNC:3631 +GARD:0010983,Orphanet,79152,ORPHA:79152,4,SLC17A9,"[FLJ23412, VNUT]",solute carrier family 17 member 9,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:25180256],612107,ENSG00000101194,1010,Q9BYT1,,HGNC:16192 +GARD:0010983,Orphanet,79152,ORPHA:79152,4,MVD,"[MPD, diphosphomevalonate decarboxylase, mevalonate pyrophosphate decarboxylase]",mevalonate diphosphate decarboxylase,gene with protein product,16q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26202976],603236,ENSG00000167508,642,P53602,P53602,HGNC:7529 +GARD:0010983,Orphanet,79152,ORPHA:79152,4,MVK,"[LH receptor mRNA-binding protein, LRBP, MK, mevalonic aciduria]",mevalonate kinase,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:22983302, PMID:26202976]",251170,ENSG00000110921,640,Q03426,Q03426,HGNC:7530 +GARD:0010984,Orphanet,319552,ORPHA:319552,1,IL12RB1,[CD212],interleukin 12 receptor subunit beta 1,gene with protein product,19p13.11,Disease-causing germline mutation(s) in,Assessed,,601604,ENSG00000096996,1715,P42701,P42701,HGNC:5971 +GARD:0010985,Orphanet,54260,ORPHA:54260,14,PRDM16,"[KIAA1675, KMT8F, MDS1/EVI1-like, MEL1, MGC166915, PFM13, PR-domain zinc finger protein 16, Transcription factor MEL1, transcription factor MEL1]",PR/SET domain 16,gene with protein product,1p36.32,Disease-causing germline mutation(s) in,Assessed,[PMID:23768516],605557,ENSG00000142611,,Q9HAZ2,Q9HAZ2,HGNC:14000 +GARD:0010985,Orphanet,54260,ORPHA:54260,14,PKP2,,plakophilin 2,gene with protein product,12p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:27030002],602861,ENSG00000057294,,Q99959,Q99959,HGNC:9024 +GARD:0010985,Orphanet,54260,ORPHA:54260,14,MIB2,"[FLJ39787, ZZZ5, skeletrophin]",MIB E3 ubiquitin protein ligase 2,gene with protein product,1p36.33,Major susceptibility factor in,Assessed,[PMID:28013292],611141,ENSG00000197530,,Q96AX9,Q96AX9,HGNC:30577 +GARD:0010985,Orphanet,54260,ORPHA:54260,14,TNNT2,[CMPD2],"troponin T2, cardiac type",gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20083571],191045,ENSG00000118194,,P45379,P45379,HGNC:11949 +GARD:0010985,Orphanet,54260,ORPHA:54260,14,LDB3,"[KIAA0613, PDLIM6, Z-band alternatively spliced PDZ motif protein, ZASP, cypher, oracle]",LIM domain binding 3,gene with protein product,10q23.2,Major susceptibility factor in,Not yet assessed,,605906,ENSG00000122367,,O75112,,HGNC:15710 +GARD:0010985,Orphanet,54260,ORPHA:54260,14,MYH7B,"[KIAA1512, MHC14, MYH14, dJ756N5.1]",myosin heavy chain 7B,gene with protein product,20q11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:23800289],609928,ENSG00000078814,,A7E2Y1,A7E2Y1,HGNC:15906 +GARD:0010985,Orphanet,54260,ORPHA:54260,14,ACTC1,[CMD1R],actin alpha cardiac muscle 1,gene with protein product,15q14,Major susceptibility factor in,Assessed,"[PMID:17611253, PMID:18506004]",102540,ENSG00000159251,,P68032,P68032,HGNC:143 +GARD:0010985,Orphanet,54260,ORPHA:54260,14,PLEKHM2,[KIAA0842],pleckstrin homology and RUN domain containing M2,gene with protein product,1p36.21,Major susceptibility factor in,Assessed,[PMID:26464484],609613,ENSG00000116786,,Q8IWE5,,HGNC:29131 +GARD:0010985,Orphanet,54260,ORPHA:54260,14,DTNA,"[D18S892E, DRP3, DTN, DTN-1, DTN-2, DTN-3, dystrophin-related protein 3]",dystrobrevin alpha,gene with protein product,18q12.1,Candidate gene tested in,Not yet assessed,[PMID:11238270],601239,ENSG00000134769,,Q9Y4J8,Q9Y4J8,HGNC:3057 +GARD:0010985,Orphanet,54260,ORPHA:54260,14,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Major susceptibility factor in,Not yet assessed,,150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0010985,Orphanet,54260,ORPHA:54260,14,TPM1,,tropomyosin 1,gene with protein product,15q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21551322],191010,ENSG00000140416,,P09493,P09493,HGNC:12010 +GARD:0010985,Orphanet,54260,ORPHA:54260,14,MYBPC3,"[FHC, MYBP-C, cMyBP-C]",myosin binding protein C3,gene with protein product,11p11.2,Candidate gene tested in,Not yet assessed,[PMID:21551322],600958,ENSG00000134571,2880,Q14896,Q14896,HGNC:7551 +GARD:0010985,Orphanet,54260,ORPHA:54260,14,MYH7,[CMD1S],myosin heavy chain 7,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25415959],160760,ENSG00000092054,,P12883,P12883,HGNC:7577 +GARD:0010985,Orphanet,54260,ORPHA:54260,14,MIB1,"[DAPK-interacting protein 1, DIP-1, KIAA1323, MIB, ZZANK2, ZZZ6]",MIB E3 ubiquitin protein ligase 1,gene with protein product,18q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23314057],608677,ENSG00000101752,,Q86YT6,Q86YT6,HGNC:21086 +GARD:0010989,Orphanet,363649,ORPHA:363649,1,POLD1,"[CDC2, CDC2 homolog (S. cerevisiae)]","DNA polymerase delta 1, catalytic subunit",gene with protein product,19q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23770608],174761,ENSG00000062822,,P28340,P28340,HGNC:9175 +GARD:0010992,Orphanet,254343,ORPHA:254343,1,MTPAP,"[FLJ10486, SPAX4, TENT6, TUTase1, mtPAP]",mitochondrial poly(A) polymerase,gene with protein product,10p11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:20970105],613669,ENSG00000107951,,Q9NVV4,Q9NVV4,HGNC:25532 +GARD:0010994,Orphanet,85201,ORPHA:85201,1,KAT6B,"[MOZ-related factor, MOZ2, Morf, ZC2HC6B, qkf, querkopf]",lysine acetyltransferase 6B,gene with protein product,10q22.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22265014, PMID:22265017, PMID:23236640]",605880,ENSG00000156650,2666,Q8WYB5,Q8WYB5,HGNC:17582 +GARD:0010995,Orphanet,402364,ORPHA:402364,1,MED17,"[CRSP77, DRIP80, SRB4, TRAP80]",mediator complex subunit 17,gene with protein product,11q21,Disease-causing germline mutation(s) in,Assessed,[PMID:20950787],603810,ENSG00000042429,,Q9NVC6,Q9NVC6,HGNC:2375 +GARD:0010997,Orphanet,284984,ORPHA:284984,1,SMAD3,"[HsT17436, JV15-2]",SMAD family member 3,gene with protein product,15q22.33,Disease-causing germline mutation(s) in,Assessed,[PMID:22167769],603109,ENSG00000166949,,P84022,P84022,HGNC:6769 +GARD:0010998,Orphanet,228402,ORPHA:228402,1,MBD5,"[FLJ11113, KIAA1461]",methyl-CpG binding domain protein 5,gene with protein product,2q23.2,Role in the phenotype of,Assessed,[PMID:19809484],611472,ENSG00000204406,,Q9P267,Q9P267,HGNC:20444 +GARD:0010999,Orphanet,280763,ORPHA:280763,4,AP4E1,"[AP-4-EPSILON, SPG51]",adaptor related protein complex 4 subunit epsilon 1,gene with protein product,15q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20972249, PMID:21620353]",607244,ENSG00000081014,,Q9UPM8,Q9UPM8,HGNC:573 +GARD:0010999,Orphanet,280763,ORPHA:280763,4,AP4S1,"[AP47B, CLA20, SPG52]",adaptor related protein complex 4 subunit sigma 1,gene with protein product,14q12,Disease-causing germline mutation(s) in,Assessed,[PMID:21620353],607243,ENSG00000100478,,Q9Y587,Q9Y587,HGNC:575 +GARD:0010999,Orphanet,280763,ORPHA:280763,4,AP4B1,"[AP-4 complex subunit beta-1, BETA-4, beta 4 subunit of AP-4]",adaptor related protein complex 4 subunit beta 1,gene with protein product,1p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21620353, PMID:22290197]",607245,ENSG00000134262,,Q9Y6B7,Q9Y6B7,HGNC:572 +GARD:0010999,Orphanet,280763,ORPHA:280763,4,AP4M1,"[AP-4 adapter complex mu subunit, MU-4, MU-ARP2, SPG50, adaptor-related protein complex AP-4 mu4 subunit, mu subunit of AP-4, mu-adaptin-related protein-2]",adaptor related protein complex 4 subunit mu 1,gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19559397],602296,ENSG00000221838,,O00189,O00189,HGNC:574 +GARD:0011000,Orphanet,319651,ORPHA:319651,1,DHFR,,dihydrofolate reductase,gene with protein product,5q14.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:21310276, PMID:21310277]",126060,ENSG00000228716,2603,P00374,P00374,HGNC:2861 +GARD:0011003,Orphanet,401996,ORPHA:401996,1,FAN1,,FANCD2 and FANCI associated nuclease 1,gene with protein product,15q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22772369],613534,ENSG00000198690,,Q9Y2M0,Q9Y2M0,HGNC:29170 +GARD:0011008,Orphanet,280576,ORPHA:280576,1,BANF1,[BAF],BAF nuclear assembly factor 1,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21549337],603811,ENSG00000175334,,O75531,O75531,HGNC:17397 +GARD:0011009,Orphanet,280586,ORPHA:280586,1,BPNT2,"['Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase', FLJ20421, IMPA3, gPAPP, golgi-resident nucleotide phosphatase]","3'(2'), 5'-bisphosphate nucleotidase 2",gene with protein product,8q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21549340],614010,ENSG00000104331,,Q9NX62,Q9NX62,HGNC:26019 +GARD:0011010,Orphanet,280598,ORPHA:280598,1,FBLN5,"[ARMD3, DANCE, EVEC, UP50, developmental arteries and neural crest EGF-like, embryonic vascular EGF-like repeat-containing protein]",fibulin 5,gene with protein product,14q32.12,Disease-causing germline mutation(s) in,Assessed,[PMID:21576112],604580,ENSG00000140092,,Q9UBX5,Q9UBX5,HGNC:3602 +GARD:0011894,Orphanet,60025,ORPHA:60025,1,SLC34A2,[NAPI-3B],solute carrier family 34 member 2,gene with protein product,4p15.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20046000, PMID:23164546]",604217,ENSG00000157765,1136,O95436,O95436,HGNC:11020 +GARD:0011897,Orphanet,1871,ORPHA:1871,4,GNAT2,[ACHM4],G protein subunit alpha transducin 2,gene with protein product,1p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:14609822],139340,ENSG00000134183,,P19087,P19087,HGNC:4394 +GARD:0011897,Orphanet,1871,ORPHA:1871,4,GUCA1A,"[COD3, CORD14, GCAP, GCAP1, cone dystrophy 3, dJ139D8.6]",guanylate cyclase activator 1A,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15735604, PMID:9425234]",600364,ENSG00000048545,,P43080,P43080,HGNC:4678 +GARD:0011897,Orphanet,1871,ORPHA:1871,4,PDE6C,"[ACHM5, COD4, Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha, PDEA2]",phosphodiesterase 6C,gene with protein product,10q23.33,Disease-causing germline mutation(s) in,Assessed,[PMID:19615668],600827,ENSG00000095464,1314,P51160,,HGNC:8787 +GARD:0011897,Orphanet,1871,ORPHA:1871,4,CNGB3,,cyclic nucleotide gated channel subunit beta 3,gene with protein product,8q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:15161866],605080,ENSG00000170289,399,Q9NQW8,,HGNC:2153 +GARD:0011901,Orphanet,300605,ORPHA:300605,5,ALS2,"[Alsin, alsin]",alsin Rho guanine nucleotide exchange factor ALS2,gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23282280],606352,ENSG00000003393,,Q96Q42,Q96Q42,HGNC:443 +GARD:0011901,Orphanet,300605,ORPHA:300605,5,SPG11,"[FLJ21439, spatacsin]","SPG11 vesicle trafficking associated, spatacsin",gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20110243, PMID:22154821, PMID:24085347]",610844,ENSG00000104133,,Q96JI7,,HGNC:11226 +GARD:0011901,Orphanet,300605,ORPHA:300605,5,FUS,"[FUS1, HNRNPP2, TLS, heterogeneous nuclear ribonucleoprotein P2, hnRNP-P2, translocated in liposarcoma]",FUS RNA binding protein,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20579074, PMID:20668261, PMID:21907581, PMID:22248478, PMID:23046859]",137070,ENSG00000089280,,P35637,P35637,HGNC:4010 +GARD:0011901,Orphanet,300605,ORPHA:300605,5,SPTLC1,"[HSAN1, LCB1, SPTI, hLCB1]",serine palmitoyltransferase long chain base subunit 1,gene with protein product,9q22.31,Disease-causing germline mutation(s) in,Assessed,[PMID:34459874],605712,ENSG00000090054,2509,O15269,O15269,HGNC:11277 +GARD:0011901,Orphanet,300605,ORPHA:300605,5,SIGMAR1,[SR-BP1],sigma non-opioid intracellular receptor 1,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21842496, PMID:24085347]",601978,ENSG00000147955,2552,Q99720,,HGNC:8157 +GARD:0011904,Orphanet,137667,ORPHA:137667,2,RASA1,"[CM-AVM, GAP, capillary malformation-arteriovenous malformation, p120, p120 RAS GTPase activating protein, p120GAP, p120RASGAP]",RAS p21 protein activator 1,gene with protein product,5q14.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:14639529, PMID:21348050]",139150,ENSG00000145715,,P20936,P20936,HGNC:9871 +GARD:0011904,Orphanet,137667,ORPHA:137667,2,EPHB4,[Tyro11],EPH receptor B4,gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28687708],600011,ENSG00000196411,1833,P54760,,HGNC:3395 +GARD:0011910,Orphanet,79474,ORPHA:79474,1,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:12927431, PMID:19270485]",150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0011911,Orphanet,94064,ORPHA:94064,2,CATSPER2,,cation channel sperm associated 2,gene with protein product,15q15.3,Role in the phenotype of,Assessed,[PMID:17098888],607249,ENSG00000166762,389,Q96P56,Q96P56,HGNC:18810 +GARD:0011911,Orphanet,94064,ORPHA:94064,2,STRC,,stereocilin,gene with protein product,15q15.3,Role in the phenotype of,Assessed,[PMID:17098888],606440,ENSG00000242866,,Q7RTU9,,HGNC:16035 +GARD:0011914,Orphanet,275777,ORPHA:275777,8,KCNK3,"[K2p3.1, TASK, TASK-1, TASK1, TWIK-related acid-sensitive K+ 1]",potassium two pore domain channel subfamily K member 3,gene with protein product,2p23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23883380, PMID:24951767]",603220,ENSG00000171303,515,O14649,O14649,HGNC:6278 +GARD:0011914,Orphanet,275777,ORPHA:275777,8,EIF2AK4,"[GCN2, KIAA1338]",eukaryotic translation initiation factor 2 alpha kinase 4,gene with protein product,15q15.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25512148],609280,ENSG00000128829,2018,Q9P2K8,,HGNC:19687 +GARD:0011914,Orphanet,275777,ORPHA:275777,8,TBX4,,T-box transcription factor 4,gene with protein product,17q23.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:23502781, PMID:23592887]",601719,ENSG00000121075,,P57082,,HGNC:11603 +GARD:0011914,Orphanet,275777,ORPHA:275777,8,SMAD9,"[SMAD8, SMAD8/9]",SMAD family member 9,gene with protein product,13q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21920918],603295,ENSG00000120693,,O15198,O15198,HGNC:6774 +GARD:0011914,Orphanet,275777,ORPHA:275777,8,ENG,"[CD105, END, HHT1]",endoglin,gene with protein product,9q34.11,Candidate gene tested in,Not yet assessed,"[PMID:15115879, PMID:15687131, PMID:23298310, PMID:24951767]",131195,ENSG00000106991,2895,P17813,P17813,HGNC:3349 +GARD:0011914,Orphanet,275777,ORPHA:275777,8,BMPR2,"[BMPR-II, BMPR3, BRK-3, T-ALK]",bone morphogenetic protein receptor type 2,gene with protein product,2q33.1-q33.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19555857, PMID:20301658, PMID:24951767]",600799,ENSG00000204217,1794,Q13873,Q13873,HGNC:1078 +GARD:0011914,Orphanet,275777,ORPHA:275777,8,ACVRL1,"[ALK1, HHT, HHT2, activin receptor-like kinase 1]",activin A receptor like type 1,gene with protein product,12q13.13,Candidate gene tested in,Not yet assessed,"[PMID:22632830, PMID:23298310, PMID:24936649, PMID:24951767, PMID:24956016]",601284,ENSG00000139567,1784,P37023,P37023,HGNC:175 +GARD:0011914,Orphanet,275777,ORPHA:275777,8,CAV1,,caveolin 1,gene with protein product,7q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22474227],601047,ENSG00000105974,,Q03135,Q03135,HGNC:1527 +GARD:0011915,Orphanet,171881,ORPHA:171881,3,TPM3,[TRK],tropomyosin 3,gene with protein product,1q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20554445],191030,ENSG00000143549,,P06753,P06753,HGNC:12012 +GARD:0011915,Orphanet,171881,ORPHA:171881,3,TPM2,"[DA1, NEM4, nemaline myopathy type 4]",tropomyosin 2,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:17846275, PMID:20301465]",190990,ENSG00000198467,,P07951,P07951,HGNC:12011 +GARD:0011915,Orphanet,171881,ORPHA:171881,3,MYPN,"['sarcomeric protein myopalladin, 145 kDa', MYOP, Sarcomeric protein myopalladin, 145 kDa]",myopalladin,gene with protein product,10q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28220527],608517,ENSG00000138347,,Q86TC9,,HGNC:23246 +GARD:0011918,Orphanet,98784,ORPHA:98784,7,CHRNA4,"[BFNC, acetylcholine receptor, nicotinic, alpha 4 (neuronal)]",cholinergic receptor nicotinic alpha 4 subunit,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301348, PMID:7550350]",118504,ENSG00000101204,465,P43681,P43681,HGNC:1958 +GARD:0011918,Orphanet,98784,ORPHA:98784,7,CHRNA2,"[acetylcholine receptor, nicotinic, alpha 2 (neuronal)]",cholinergic receptor nicotinic alpha 2 subunit,gene with protein product,8p21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:16826524, PMID:20301348]",118502,ENSG00000120903,463,Q15822,Q15822,HGNC:1956 +GARD:0011918,Orphanet,98784,ORPHA:98784,7,KCNT1,"[KCa4.1, KIAA1422, SLACK, Sequence like a calcium-activated K+ channel, Slo2.2]",potassium sodium-activated channel subfamily T member 1,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23086396],608167,ENSG00000107147,385,Q5JUK3,,HGNC:18865 +GARD:0011918,Orphanet,98784,ORPHA:98784,7,CABP4,[CSNB2B],calcium binding protein 4,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:29108277],608965,ENSG00000175544,,P57796,,HGNC:1386 +GARD:0011918,Orphanet,98784,ORPHA:98784,7,CHRNB2,"[acetylcholine receptor, nicotinic, beta 2 (neuronal)]",cholinergic receptor nicotinic beta 2 subunit,gene with protein product,1q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:11062464, PMID:20301348]",118507,ENSG00000160716,472,P17787,P17787,HGNC:1962 +GARD:0011918,Orphanet,98784,ORPHA:98784,7,DEPDC5,"[DEP.5, KIAA0645]","DEP domain containing 5, GATOR1 subcomplex subunit",gene with protein product,22q12.2-q12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23542697, PMID:23542701]",614191,ENSG00000100150,,O75140,,HGNC:18423 +GARD:0011918,Orphanet,98784,ORPHA:98784,7,CRH,"[CRF, CRH1, corticoliberin, corticotropin-releasing factor]",corticotropin releasing hormone,gene with protein product,8q13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:16222669, PMID:20301348]",122560,ENSG00000147571,,P06850,P06850,HGNC:2355 +GARD:0011925,Orphanet,596,ORPHA:596,1,MTM1,,myotubularin 1,gene with protein product,Xq28,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301605],300415,ENSG00000171100,,Q13496,Q13496,HGNC:7448 +GARD:0011927,Orphanet,456318,ORPHA:456318,1,DNMT1,"[CXXC9, MCMT]",DNA methyltransferase 1,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21532572, PMID:23365052]",126375,ENSG00000130816,2605,P26358,P26358,HGNC:2976 +GARD:0011980,Orphanet,85163,ORPHA:85163,1,FAM126A,"[DRCTNNB1A, HCC, HYCC1, down regulated by Ctnnb1, a, hyccin]",family with sequence similarity 126 member A,gene with protein product,7p15.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:16951682, PMID:20301737]",610531,ENSG00000122591,,Q9BYI3,,HGNC:24587 +GARD:0011983,Orphanet,397596,ORPHA:397596,3,PIK3CD,"[p110D, phosphatidylinositol 3-kinase, catalytic, delta polypeptide, phosphoinositide-3-kinase C]","phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta",gene with protein product,1p36.22,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24136356],602839,ENSG00000171608,2155,O00329,O00329,HGNC:8977 +GARD:0011983,Orphanet,397596,ORPHA:397596,3,PIK3R1,"[GRB1, p85, p85-ALPHA, phosphoinositide-3-kinase regulatory subunit alpha]",phosphoinositide-3-kinase regulatory subunit 1,gene with protein product,5q13.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25133428],171833,ENSG00000145675,2503,P27986,P27986,HGNC:8979 +GARD:0011983,Orphanet,397596,ORPHA:397596,3,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27426521],601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,TMEM127,"[FLJ20507, FLJ22257]",transmembrane protein 127,gene with protein product,2q11.2,Candidate gene tested in,Not yet assessed,[PMID:21156949],613403,ENSG00000135956,,O75204,,HGNC:26038 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,NF1,"[Watson disease, neurofibromatosis, von Recklinghausen disease]",neurofibromin 1,gene with protein product,17q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30536464],613113,ENSG00000196712,,P21359,P21359,HGNC:7765 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,MDH2,,malate dehydrogenase 2,gene with protein product,7q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:25766404],154100,ENSG00000146701,,P40926,P40926,HGNC:6971 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,FH,[fumarase],fumarate hydratase,gene with protein product,1q43,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:24334767, PMID:25004247]",136850,ENSG00000091483,,P07954,P07954,HGNC:3700 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,SDHC,"[CYB560, cybL, large subunit of cytochrome b, succinate dehydrgenase cytochrome b, succinate dehydrogenase cytochrome b560 subunit]",succinate dehydrogenase complex subunit C,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301715],602413,ENSG00000143252,,Q99643,Q99643,HGNC:10682 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,SDHB,"[iron-sulfur subunit of complex II, succinate dehydrogenase [ubiquinone] iron-sulfur subunit]",succinate dehydrogenase complex iron sulfur subunit B,gene with protein product,1p36.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301715],185470,ENSG00000117118,,P21912,P21912,HGNC:10681 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,SLC25A11,[OGC],solute carrier family 25 member 11,gene with protein product,17p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:29431636],604165,ENSG00000108528,1053,Q02978,Q02978,HGNC:10981 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,RET,"[CDHF12, CDHR16, PTC, RET receptor tyrosine kinase, RET51, cadherin-related family member 16, rearranged during transfection]",ret proto-oncogene,gene with protein product,10q11.21,Candidate gene tested in,Not yet assessed,"[PMID:23551045, PMID:24375508]",164761,ENSG00000165731,2185,P07949,P07949,HGNC:9967 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,SDHD,"[cybS, small subunit of cytochrome b]",succinate dehydrogenase complex subunit D,gene with protein product,11q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301715],602690,ENSG00000204370,,O14521,O14521,HGNC:10683 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,MAX,"[bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8]",MYC associated factor X,gene with protein product,14q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301715],154950,ENSG00000125952,,P61244,P61244,HGNC:6913 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,KIF1B,"[HMSNII, KIAA0591, KLP]",kinesin family member 1B,gene with protein product,1p36.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18334619],605995,ENSG00000054523,,O60333,O60333,HGNC:16636 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,SDHAF2,"[FLJ20487, SDH5]",succinate dehydrogenase complex assembly factor 2,gene with protein product,11q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301715],613019,ENSG00000167985,,Q9NX18,,HGNC:26034 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,SDHA,"[FP, SDHF, flavoprotein subunit of complex II, succinate dehydrogenase [ubiquinone] flavoprotein subunit]",succinate dehydrogenase complex flavoprotein subunit A,gene with protein product,5p15.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20301715],600857,ENSG00000073578,,P31040,P31040,HGNC:10680 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,VHL,[VHL1],von Hippel-Lindau tumor suppressor,gene with protein product,3p25.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19574279, PMID:9215674]",608537,ENSG00000134086,,P40337,P40337,HGNC:12687 +GARD:0011984,Orphanet,29072,ORPHA:29072,15,DLST,"[2-oxoglutarate dehydrogenase complex component E2, Dihydrolipoyllysine-residue succinyltransferase, KGD2, OGDC-E2]",dihydrolipoamide S-succinyltransferase,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31051110],126063,ENSG00000119689,,P36957,,HGNC:2911 +GARD:0012011,Orphanet,93114,ORPHA:93114,1,INF2,"[MGC13251, inverted formin 2]","inverted formin, FH2 and WH2 domain containing",gene with protein product,14q32.33,Disease-causing germline mutation(s) in,Assessed,[PMID:22187985],610982,ENSG00000203485,,Q27J81,,HGNC:23791 +GARD:0012027,Orphanet,146,ORPHA:146,29,LPAR4,"[LPA4, P2RY9, P2Y5-LIKE, P2Y9]",lysophosphatidic acid receptor 4,gene with protein product,Xq21.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:26941397],300086,ENSG00000147145,94,Q99677,Q99677,HGNC:4478 +GARD:0012027,Orphanet,146,ORPHA:146,29,GAS8-AS1,,GAS8 antisense RNA 1,Non-coding RNA,16q24.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:26941397],605179,ENSG00000221819,,O95177,,HGNC:1197 +GARD:0012027,Orphanet,146,ORPHA:146,29,KRAS,"[K-Ras4B, KRAS1]","KRAS proto-oncogene, GTPase",gene with protein product,12p12.1,Disease-causing somatic mutation(s) in,Assessed,"[PMID:23625203, PMID:25109485, PMID:25132659, PMID:25648502]",190070,ENSG00000133703,2824,P01116,P01116,HGNC:6407 +GARD:0012027,Orphanet,146,ORPHA:146,29,TERT,"[EST2, TCS1, TP2, TRT, hEST2]",telomerase reverse transcriptase,gene with protein product,5p15.33,Disease-causing somatic mutation(s) in,Assessed,"[PMID:27581851, PMID:27875244]",187270,ENSG00000164362,,O14746,O14746,HGNC:11730 +GARD:0012027,Orphanet,146,ORPHA:146,29,GOLGA5,"[GOLIM5, golgi integral membrane protein 5, golgin-84, ret-II, rfg5]",golgin A5,gene with protein product,14q32.12,Part of a fusion gene in,Assessed,"[PMID:17062879, PMID:9443391]",606918,ENSG00000066455,,Q8TBA6,Q8TBA6,HGNC:4428 +GARD:0012027,Orphanet,146,ORPHA:146,29,TRIM27,[RNF76],tripartite motif containing 27,gene with protein product,6p22.1,Part of a fusion gene in,Assessed,"[PMID:12787916, PMID:17062879]",602165,ENSG00000204713,,P14373,P14373,HGNC:9975 +GARD:0012027,Orphanet,146,ORPHA:146,29,EIF1AX,"[eIF-1A, eIF-4C]",eukaryotic translation initiation factor 1A X-linked,gene with protein product,Xp22.12,Disease-causing somatic mutation(s) in,Assessed,[PMID:25417114],300186,ENSG00000173674,,P47813,P47813,HGNC:3250 +GARD:0012027,Orphanet,146,ORPHA:146,29,TRIM33,"[FLJ11429, KIAA1113, PTC7, RFG7, TF1G, TIF1G, TIF1GAMMA, TIFGAMMA, ret-fused gene 7, transcriptional intermediary factor 1 gamma]",tripartite motif containing 33,gene with protein product,1p13.2,Part of a fusion gene in,Assessed,"[PMID:10439047, PMID:17062879]",605769,ENSG00000197323,2254,Q9UPN9,Q9UPN9,HGNC:16290 +GARD:0012027,Orphanet,146,ORPHA:146,29,NRAS,[N-ras],"NRAS proto-oncogene, GTPase",gene with protein product,1p13.2,Disease-causing somatic mutation(s) in,Assessed,"[PMID:17891228, PMID:25109485, PMID:25132659, PMID:25648502]",164790,ENSG00000213281,2823,P01111,P01111,HGNC:7989 +GARD:0012027,Orphanet,146,ORPHA:146,29,NDUFA13,"[B16.6, CDA016, CGI-39, GRIM-19, GRIM19, complex I B16.6 subunit]",NADH:ubiquinone oxidoreductase subunit A13,gene with protein product,19p13.11,Disease-causing somatic mutation(s) in,Assessed,[PMID:15841082],609435,ENSG00000186010,,Q9P0J0,Q9P0J0,HGNC:17194 +GARD:0012027,Orphanet,146,ORPHA:146,29,RET,"[CDHF12, CDHR16, PTC, RET receptor tyrosine kinase, RET51, cadherin-related family member 16, rearranged during transfection]",ret proto-oncogene,gene with protein product,10q11.21,Part of a fusion gene in,Assessed,"[PMID:17891228, PMID:25407564]",164761,ENSG00000165731,2185,P07949,P07949,HGNC:9967 +GARD:0012027,Orphanet,146,ORPHA:146,29,ERC1,"[CAST2, ELKS, KIAA1081, MGC12974]",ELKS/RAB6-interacting/CAST family member 1,gene with protein product,12p13.33,Part of a fusion gene in,Assessed,[PMID:10337992],607127,ENSG00000082805,,Q8IUD2,,HGNC:17072 +GARD:0012027,Orphanet,146,ORPHA:146,29,NKX2-1,"[TTF-1, TTF1]",NK2 homeobox 1,gene with protein product,14q13.3,Major susceptibility factor in,Assessed,[PMID:21730105],600635,ENSG00000136352,,P43699,P43699,HGNC:11825 +GARD:0012027,Orphanet,146,ORPHA:146,29,NTRK3,[TRKC],neurotrophic receptor tyrosine kinase 3,gene with protein product,15q25.3,Part of a fusion gene in,Assessed,[PMID:24327398],191316,ENSG00000140538,1819,Q16288,Q16288,HGNC:8033 +GARD:0012027,Orphanet,146,ORPHA:146,29,ETV6,"[TEL, TEL oncogene]",ETS variant transcription factor 6,gene with protein product,12p13.2,Part of a fusion gene in,Assessed,[PMID:24327398],600618,ENSG00000139083,,P41212,P41212,HGNC:3495 +GARD:0012027,Orphanet,146,ORPHA:146,29,CCDC6,"[DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1, H4, PTC, TPC]",coiled-coil domain containing 6,gene with protein product,10q21.2,Part of a fusion gene in,Assessed,[PMID:25407564],601985,ENSG00000108091,,Q16204,,HGNC:18782 +GARD:0012027,Orphanet,146,ORPHA:146,29,TFG,"[FLJ36137, SPG57, TF6]",trafficking from ER to golgi regulator,gene with protein product,3q12.2,Part of a fusion gene in,Assessed,"[PMID:9169129, PMID:9172002]",602498,ENSG00000114354,,Q92734,Q92734,HGNC:11758 +GARD:0012027,Orphanet,146,ORPHA:146,29,HRAS,,"HRas proto-oncogene, GTPase",gene with protein product,11p15.5,Disease-causing somatic mutation(s) in,Assessed,"[PMID:17891228, PMID:25109485, PMID:25132659, PMID:25648502]",190020,ENSG00000174775,2822,P01112,P01112,HGNC:5173 +GARD:0012027,Orphanet,146,ORPHA:146,29,NCOA4,"[ARA70, DKFZp762E1112, ELE1, PTC3, RET-activating gene ELE1, RFG]",nuclear receptor coactivator 4,gene with protein product,10q11.22,Part of a fusion gene in,Assessed,"[PMID:25407564, PMID:8290261]",601984,ENSG00000266412,,Q13772,,HGNC:7671 +GARD:0012027,Orphanet,146,ORPHA:146,29,ALK,[CD246],ALK receptor tyrosine kinase,gene with protein product,2p23.2-p23.1,Part of a fusion gene in,Assessed,"[PMID:25148236, PMID:25501013]",105590,ENSG00000171094,1839,Q9UM73,Q9UM73,HGNC:427 +GARD:0012027,Orphanet,146,ORPHA:146,29,FOXE1,"[HFKH4, TTF-2, thyroid transcription factor 2]",forkhead box E1,gene with protein product,9q22.33,Major susceptibility factor in,Assessed,[PMID:21730105],602617,ENSG00000178919,,O00358,,HGNC:3806 +GARD:0012027,Orphanet,146,ORPHA:146,29,PAX8,,paired box 8,gene with protein product,2q14.1,Part of a fusion gene in,Assessed,"[PMID:10958784, PMID:17891228, PMID:25069464, PMID:25708358]",167415,ENSG00000125618,,Q06710,Q06710,HGNC:8622 +GARD:0012027,Orphanet,146,ORPHA:146,29,TRIM24,"[RNF82, TIF1A, Tif1a, hTIF1]",tripartite motif containing 24,gene with protein product,7q33-q34,Part of a fusion gene in,Assessed,"[PMID:10439047, PMID:17062879]",603406,ENSG00000122779,2252,O15164,O15164,HGNC:11812 +GARD:0012027,Orphanet,146,ORPHA:146,29,DIRC3,[FLJ14199],disrupted in renal carcinoma 3,Non-coding RNA,2q35,Major susceptibility factor in,Assessed,[PMID:23894154],608262,ENSG00000231672,,C9JPN6,,HGNC:17805 +GARD:0012027,Orphanet,146,ORPHA:146,29,TPR,,"translocated promoter region, nuclear basket protein",gene with protein product,1q31.1,Part of a fusion gene in,Assessed,"[PMID:1532241, PMID:9172002]",189940,ENSG00000047410,,P12270,P12270,HGNC:12017 +GARD:0012027,Orphanet,146,ORPHA:146,29,NTRK1,"[MTC, TRK, TRKA, high affinity nerve growth factor receptor]",neurotrophic receptor tyrosine kinase 1,gene with protein product,1q23.1,Part of a fusion gene in,Assessed,"[PMID:19883730, PMID:9169129, PMID:9172002]",191315,ENSG00000198400,1817,P04629,P04629,HGNC:8031 +GARD:0012027,Orphanet,146,ORPHA:146,29,BRAF,[BRAF1],"B-Raf proto-oncogene, serine/threonine kinase",gene with protein product,7q34,Disease-causing somatic mutation(s) in,Assessed,"[PMID:12670889, PMID:17891228, PMID:25069464, PMID:25468810, PMID:25489262, PMID:25702102]",164757,ENSG00000157764,1943,P15056,P15056,HGNC:1097 +GARD:0012027,Orphanet,146,ORPHA:146,29,PPARG,"[NR1C3, PPARG1, PPARG2, PPARgamma]",peroxisome proliferator activated receptor gamma,gene with protein product,3p25.2,Part of a fusion gene in,Assessed,"[PMID:10958784, PMID:17891228, PMID:25069464, PMID:25708358]",601487,ENSG00000132170,595,P37231,P37231,HGNC:9236 +GARD:0012027,Orphanet,146,ORPHA:146,29,PCM1,[PTC4],pericentriolar material 1,gene with protein product,8p22,Part of a fusion gene in,Assessed,[PMID:10980597],600299,ENSG00000078674,,Q15154,Q15154,HGNC:8727 +GARD:0012059,Orphanet,370933,ORPHA:370933,1,ST3GAL5,"['lactosylceramide alpha-2,3-sialyltransferase', SIATGM3S, ST3GalV, ganglioside GM3 synthase]","ST3 beta-galactoside alpha-2,3-sialyltransferase 5",gene with protein product,2p11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:15502825, PMID:24026681]",604402,ENSG00000115525,,Q9UNP4,Q9UNP4,HGNC:10872 +GARD:0012099,Orphanet,75234,ORPHA:75234,1,LIPA,"[CESD, LAL, Wolman disease, lysosomal acid lipase, sterol esterase]","lipase A, lysosomal acid type",gene with protein product,10q23.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22227072, PMID:26225414]",613497,ENSG00000107798,,P38571,P38571,HGNC:6617 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,DOCK8,"[FLJ00026, FLJ00152, FLJ00346, ZIR8]",dedicator of cytokinesis 8,gene with protein product,9p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18060736],611432,ENSG00000107099,,Q8NF50,Q8NF50,HGNC:19191 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,CUX1,"[CASP, CDP, CDP/Cut, CDP/Cux, CDP1, CUT, CUX, CUX1 gene Alternatively Spliced Product, Clox, Cux/CDP, GOLIM6, golgi integral membrane protein 6]",cut like homeobox 1,gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30014507],116896,ENSG00000257923,,P39880,P39880,HGNC:2557 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,SYNGAP1,"[KIAA1938, RASA5, SYNGAP]",synaptic Ras GTPase activating protein 1,gene with protein product,6p21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:23161826],603384,ENSG00000197283,,Q96PV0,Q96PV0,HGNC:11497 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,SETD1B,"[KIAA1076, KMT2G, Set1B]","SET domain containing 1B, histone lysine methyltransferase",gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:32546566],611055,ENSG00000139718,2701,Q9UPS6,Q9UPS6,HGNC:29187 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,RAB11A,[YL8],"RAB11A, member RAS oncogene family",gene with protein product,15q22.31,Disease-causing germline mutation(s) in,Assessed,[PMID:29100083],605570,ENSG00000103769,,P62491,P62491,HGNC:9760 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,CAMK2B,"[CAM2, CAMK2, CaM kinase II beta subunit, CaM-kinase II beta chain, CaMKIIß, calcium/calmodulin-dependent protein kinase type II beta chain, proline rich calmodulin-dependent protein kinase]",calcium/calmodulin dependent protein kinase II beta,gene with protein product,7p13,Disease-causing germline mutation(s) in,Assessed,[PMID:29100089],607707,ENSG00000058404,1556,Q13554,Q13554,HGNC:1461 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,CAMK2A,"[CaM kinase II alpha subunit, CaM-kinase II alpha chain, CaMK-II alpha subunit, CaMKIINalpha, CaMKIIa, KIAA0968, calcium/calmodulin-dependent protein kinase II alpha-B subunit, calcium/calmodulin-dependent protein kinase type II alpha chain]",calcium/calmodulin dependent protein kinase II alpha,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,[PMID:29100089],114078,ENSG00000070808,1555,Q9UQM7,Q9UQM7,HGNC:1460 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,DLL1,,delta like canonical Notch ligand 1,gene with protein product,6q27,Disease-causing germline mutation(s) in,Assessed,[PMID:31353024],606582,ENSG00000198719,,O00548,O00548,HGNC:2908 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,CSNK2B,"[Ckb1, Ckb2]",casein kinase 2 beta,gene with protein product,6p21.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28585349],115441,ENSG00000204435,1551,P67870,P67870,HGNC:2460 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,CDH15,,cadherin 15,gene with protein product,16q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19012874],114019,ENSG00000129910,,P55291,P55291,HGNC:1754 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,GRIN1,[GluN1],glutamate ionotropic receptor NMDA type subunit 1,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21376300],138249,ENSG00000176884,455,Q05586,Q05586,HGNC:4584 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,TAOK1,"[FLJ14314, KIAA1361, MAP3K16, MARK kinase, MARKK, PSK2, TAO1, hKFC-B, hTAOK1, prostate-derived sterile 20-like kinase 2, thousand and one amino acid protein kinase 1]",TAO kinase 1,gene with protein product,17q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31230721],610266,ENSG00000160551,2233,Q7L7X3,Q7L7X3,HGNC:29259 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,ZMYND11,[BS69],zinc finger MYND-type containing 11,gene with protein product,10p15.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25217958],608668,ENSG00000015171,2782,Q15326,Q15326,HGNC:16966 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,CLTC,[Hc],clathrin heavy chain,gene with protein product,17q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29100083],118955,ENSG00000141367,,Q00610,Q00610,HGNC:2092 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,PPP3CA,"[CNA1, PPP2B, calcineurin A alpha, protein phosphatase 2B, catalytic subunit, alpha isoform]",protein phosphatase 3 catalytic subunit alpha,gene with protein product,4q24,Disease-causing germline mutation(s) in,Assessed,[PMID:28942967],114105,ENSG00000138814,,Q08209,Q08209,HGNC:9314 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,KDM5B,"[CT31, PLU-1, PPP1R98, RBBP2H1A, cancer/testis antigen 31, protein phosphatase 1, regulatory subunit 98]",lysine demethylase 5B,gene with protein product,1q32.1,Candidate gene tested in,Not yet assessed,[PMID:24307393],605393,ENSG00000117139,2681,Q9UGL1,Q9UGL1,HGNC:18039 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,SET,"[2PP2A, HLA-DR-associated protein II, IGAAD, IPP2A2, PHAPII, TAF-I, TAF-IBETA, Template-Activating Factor-I, Template-Activating Factor-I, chromatin remodelling factor, chromatin remodelling factor, inhibitor of granzyme A-activated DNase, protein phosphatase type 2A inhibitor]",SET nuclear proto-oncogene,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,[PMID:29688601],600960,ENSG00000119335,,Q01105,Q01105,HGNC:10760 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,BRSK2,"[PEN11B, serine/threonine kinase 29]",BR serine/threonine kinase 2,gene with protein product,11p15.5,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30879638],609236,ENSG00000174672,1947,Q8IWQ3,Q8IWQ3,HGNC:11405 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,PRICKLE2,[DKFZp686D143],prickle planar cell polarity protein 2,gene with protein product,3p14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:34092786],608501,ENSG00000163637,,Q7Z3G6,,HGNC:20340 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,EEF1A2,"[EEF1AL, HS1]",eukaryotic translation elongation factor 1 alpha 2,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:24697219],602959,ENSG00000101210,,Q05639,Q05639,HGNC:3192 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,ASH1L,"[ASH1, ASH1L1, KMT2H, huASH1]",ASH1 like histone lysine methyltransferase,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:23033978, PMID:28394464]",607999,ENSG00000116539,2648,Q9NR48,Q9NR48,HGNC:19088 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,HIVEP2,"[HIV-EP2, MBP-2, MIBP1, Schnurri-2, ZAS2, ZNF40B, c-myc intron binding protein 1]",HIVEP zinc finger 2,gene with protein product,6q24.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26153216, PMID:27003583]",143054,ENSG00000010818,,P31629,,HGNC:4921 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,KIRREL3,"[KIAA1867, KIRRE, NEPH2]",kirre like nephrin family adhesion molecule 3,gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:19012874],607761,ENSG00000149571,,Q8IZU9,Q8IZU9,HGNC:23204 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,KIF1A,[UNC104],kinesin family member 1A,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21376300],601255,ENSG00000130294,,Q12756,Q12756,HGNC:888 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,CACNA1I,,calcium voltage-gated channel subunit alpha1 I,gene with protein product,22q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:33704440],608230,ENSG00000100346,537,Q9P0X4,,HGNC:1396 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,KCNQ2,"[BFNC, ENB1, HNSPC, KCNA11, Kv7.2]",potassium voltage-gated channel subfamily Q member 2,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:33754465],602235,ENSG00000075043,561,O43526,O43526,HGNC:6296 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,MED12L,"[KIAA1635, TNRC11L, TRALP, TRALPUSH]",mediator complex subunit 12L,gene with protein product,3q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:31155615],611318,ENSG00000144893,,Q86YW9,Q86YW9,HGNC:16050 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,DYNC1H1,"[CMT2O, DHC1, Dnchc1, HL-3, p22]",dynein cytoplasmic 1 heavy chain 1,gene with protein product,14q32.31,Disease-causing germline mutation(s) in,Assessed,[PMID:22368300],600112,ENSG00000197102,,Q14204,Q14204,HGNC:2961 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,ERBB4,"[ALS19, HER4, human epidermal growth factor receptor 4]",erb-b2 receptor tyrosine kinase 4,gene with protein product,2q34,Disease-causing germline mutation(s) in,Assessed,[PMID:33603162],600543,ENSG00000178568,1799,Q15303,Q15303,HGNC:3432 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,EPB41L1,"[4.1N, KIAA0338]",erythrocyte membrane protein band 4.1 like 1,gene with protein product,20q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:21376300],602879,ENSG00000088367,,Q9H4G0,Q9H4G0,HGNC:3378 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,MYT1L,"[KIAA1106, NZF1, ZC2H2C2, ZC2HC4B, neural zinc finger transcription factor 1]",myelin transcription factor 1 like,gene with protein product,2p25.3,Candidate gene tested in,Not yet assessed,[PMID:21990140],613084,ENSG00000186487,,Q9UL68,,HGNC:7623 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,NBEA,"[BCL8B, FLJ10197, KIAA1544, LYST2]",neurobeachin,gene with protein product,13q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30269351],604889,ENSG00000172915,,Q8NFP9,Q8NFP9,HGNC:7648 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,TRPM3,"[GON-2, KIAA1616, LTRPC3, melastatin 2]",transient receptor potential cation channel subfamily M member 3,gene with protein product,9q21.12-q21.13,Disease-causing germline mutation(s) in,Assessed,[PMID:31278393],608961,ENSG00000083067,495,Q9HCF6,Q9HCF6,HGNC:17992 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,MBD5,"[FLJ11113, KIAA1461]",methyl-CpG binding domain protein 5,gene with protein product,2q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23422940],611472,ENSG00000204406,,Q9P267,Q9P267,HGNC:20444 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,DEAF1,"[NUDR, SPN, ZMYND5]",DEAF1 transcription factor,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:24726472],602635,ENSG00000177030,,O75398,O75398,HGNC:14677 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,CIC,[KIAA0306],capicua transcriptional repressor,gene with protein product,19q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28288114],612082,ENSG00000079432,,Q96RK0,Q96RK0,HGNC:14214 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,KCNQ5,[Kv7.5],potassium voltage-gated channel subfamily Q member 5,gene with protein product,6q13,Disease-causing germline mutation(s) in,Assessed,[PMID:28669405],607357,ENSG00000185760,564,Q9NR82,Q9NR82,HGNC:6299 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,ITSN1,"[MGC134948, MGC134949, SH3 domain protein-1A, SH3P17, Src homology 3 domain-containing protein, human intersectin-SH3 domain-containing protein SH3P17]",intersectin 1,gene with protein product,21q22.11,Disease-causing germline mutation(s) in,Assessed,[PMID:34707297],602442,ENSG00000205726,,Q15811,Q15811,HGNC:6183 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,GRIN2B,[GluN2B],glutamate ionotropic receptor NMDA type subunit 2B,gene with protein product,12p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20890276],138252,ENSG00000273079,457,Q13224,Q13224,HGNC:4586 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,TCF4,"[E2-2, ITF2, SEF2-1B, SL3-3 enhancer factor 2, bHLHb19, class B basic helix-loop-helix protein 19, immunoglobulin transcription factor 2]",transcription factor 4,gene with protein product,18q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22670824],602272,ENSG00000196628,,P15884,P15884,HGNC:11634 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,CACNG2,"[MGC138502, MGC138504, Stargazin, stargazin]",calcium voltage-gated channel auxiliary subunit gamma 2,gene with protein product,22q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21376300],602911,ENSG00000166862,,Q9Y698,Q9Y698,HGNC:1406 +GARD:0012107,Orphanet,178469,ORPHA:178469,42,CHAMP1,"[CAMP, CHAMP, chromosome alignment-maintaining phosphoprotein]",chromosome alignment maintaining phosphoprotein 1,gene with protein product,13q34,Disease-causing germline mutation(s) in,Assessed,[PMID:26340335],616327,ENSG00000198824,,Q96JM3,Q96JM3,HGNC:20311 +GARD:0012109,Orphanet,33364,ORPHA:33364,7,MPLKIP,"[ORF20, TTDN1, tricothiodystrophy, non-photosensitive 1]",M-phase specific PLK1 interacting protein,gene with protein product,7p14.1,Disease-causing germline mutation(s) in,Assessed,,609188,ENSG00000168303,,Q8TAP9,,HGNC:16002 +GARD:0012109,Orphanet,33364,ORPHA:33364,7,ERCC2,"[EM9, MAG, MGC102762, MGC126218, MGC126219, TFIIH, TFIIH basal transcription factor complex helicase XPB subunit, excision repair cross-complementing rodent repair deficiency, complementation group 2 protein]","ERCC excision repair 2, TFIIH core complex helicase subunit",gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:12393803],126340,ENSG00000104884,,P18074,P18074,HGNC:3434 +GARD:0012109,Orphanet,33364,ORPHA:33364,7,RNF113A,"[Cwc24, RNF113]",ring finger protein 113A,gene with protein product,Xq24,Disease-causing germline mutation(s) in,Assessed,[PMID:25612912],300951,ENSG00000125352,,O15541,,HGNC:12974 +GARD:0012109,Orphanet,33364,ORPHA:33364,7,TARS1,"[threonine tRNA ligase 1, cytoplasmic]",threonyl-tRNA synthetase 1,gene with protein product,5p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31374204],187790,ENSG00000113407,,P26639,P26639,HGNC:11572 +GARD:0012109,Orphanet,33364,ORPHA:33364,7,GTF2E2,"[FE, TF2E2, TFIIE beta subunit, TFIIE-B, Transcription initiation factor IIE subunit beta]",general transcription factor IIE subunit 2,gene with protein product,8p12,Disease-causing germline mutation(s) in,Assessed,[PMID:26996949],189964,ENSG00000197265,,P29084,P29084,HGNC:4651 +GARD:0012109,Orphanet,33364,ORPHA:33364,7,GTF2H5,"[DNA repair syndrome trichothiodystrophy group A, FLJ30544, TFB5, TFIIH, TTD-A, TTDA, bA120J8.2]",general transcription factor IIH subunit 5,gene with protein product,6q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12393803],608780,ENSG00000272047,,Q6ZYL4,Q6ZYL4,HGNC:21157 +GARD:0012109,Orphanet,33364,ORPHA:33364,7,ERCC3,"[BTF2, GTF2H, RAD25, Ssl2, TFIIH, XPB, xeroderma pigmentosum group B complementing]","ERCC excision repair 3, TFIIH core complex helicase subunit",gene with protein product,2q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12393803],133510,ENSG00000163161,,P19447,P19447,HGNC:3435 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,TAF13,"[TAFII18, Transcription initiation factor TFIID subunit 13]",TATA-box binding protein associated factor 13,gene with protein product,1p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28257693],600774,ENSG00000197780,,Q15543,R-HSA-65557,HGNC:11546 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,CIT,"[CITK, CRIK, KIAA0949, STK21, serine/threonine kinase 21]",citron rho-interacting serine/threonine kinase,gene with protein product,12q24.23,Disease-causing germline mutation(s) in,Assessed,[PMID:27453578],605629,ENSG00000122966,1509,O14578,O14578,HGNC:1985 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,SASS6,"[DKFZp761A078, FLJ22097, SAS-6, SAS6]",SAS-6 centriolar assembly protein,gene with protein product,1p21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24951542],609321,ENSG00000156876,,Q6UVJ0,Q6UVJ0,HGNC:25403 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,MCPH1,"[BRCT-repeat inhibitor of TERT expression 1, BRIT1, FLJ12847]",microcephalin 1,gene with protein product,8p23.1,Disease-causing germline mutation(s) in,Assessed,,607117,ENSG00000147316,,Q8NEM0,Q8NEM0,HGNC:6954 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,CENPJ,"[BM032, CPAP, LAG-3-associated protein, LAP, LIP1, SASS4, SCKL4, Sas-4, Seckel syndrome 4, Spindle assembly abnormal 4, centrosomal P4.1-associated protein]",centromere protein J,gene with protein product,13q12.12-q12.13,Disease-causing germline mutation(s) in,Assessed,,609279,ENSG00000151849,,Q9HC77,Q9HC77,HGNC:17272 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,CDK5RAP2,"[C48, CEP215, FLJ10867, centrosomin]",CDK5 regulatory subunit associated protein 2,gene with protein product,9q33.2,Disease-causing germline mutation(s) in,Assessed,,608201,ENSG00000136861,,Q96SN8,Q96SN8,HGNC:18672 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,PYCR2,[P5CR2],pyrroline-5-carboxylate reductase 2,gene with protein product,1q42.12,Disease-causing germline mutation(s) in,Assessed,[PMID:27860360],616406,ENSG00000143811,,Q96C36,R-HSA-6783954,HGNC:30262 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,TRAPPC14,[FLJ10925],trafficking protein particle complex subunit 14,gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30715179],618350,ENSG00000146826,,Q8WVR3,Q8WVR3,HGNC:25604 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,NCAPD3,"[CAP-D3, FLJ42888, KIAA0056, hCAP-D3, hHCP-6, hcp-6]",non-SMC condensin II complex subunit D3,gene with protein product,11q25,Disease-causing germline mutation(s) in,Assessed,[PMID:27737959],609276,ENSG00000151503,,P42695,,HGNC:28952 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,METTL5,[HSPC133],"methyltransferase 5, N6-adenosine",gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:31564433],618628,ENSG00000138382,,Q9NRN9,,HGNC:25006 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,CDK6,[PLSTIRE],cyclin dependent kinase 6,gene with protein product,7q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23918663],603368,ENSG00000105810,1978,Q00534,Q00534,HGNC:1777 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,WDR62,"[DKFZP434J046, FLJ33298]",WD repeat domain 62,gene with protein product,19q13.12,Disease-causing germline mutation(s) in,Assessed,,613583,ENSG00000075702,,O43379,O43379,HGNC:24502 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,KNL1,"[AF15Q14, CT29, D40, KIAA1570, PPP1R55, Spc7, blinkin, bub-linking kinetochore protein, cancer/testis antigen 29, hKNL-1, hSpc105, kinetochore null 1 homolog (C. elegans), protein phosphatase 1, regulatory subunit 55]",kinetochore scaffold 1,gene with protein product,15q15.1,Disease-causing germline mutation(s) in,Assessed,,609173,ENSG00000137812,,Q8NG31,Q8NG31,HGNC:24054 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,ASPM,"[ASP, Calmbp1, FLJ10517, FLJ10549]",assembly factor for spindle microtubules,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,,605481,ENSG00000066279,,Q8IZT6,Q8IZT6,HGNC:19048 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,MFSD2A,"[FLJ14490, SLC59A1, sodium-dependent LPC symporter 1, sodium-dependent lysophosphatidylcholine symporter 1]",major facilitator superfamily domain containing 2A,gene with protein product,1p34.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26005865, PMID:26005868]",614397,ENSG00000168389,3041,Q8NA29,Q8NA29,HGNC:25897 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,COPB2,"[beta'-COP, betaprime-COP, coatomer protein complex subunit beta prime]",COPI coat complex subunit beta 2,gene with protein product,3q23,Disease-causing germline mutation(s) in,Assessed,[PMID:29036432],606990,ENSG00000184432,,P35606,P35606,HGNC:2232 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,ANKLE2,"[LEM domain containing 7, LEMD7, Lem4]",ankyrin repeat and LEM domain containing 2,gene with protein product,12q24.33,Disease-causing germline mutation(s) in,Assessed,[PMID:25259927],616062,ENSG00000176915,,Q86XL3,Q86XL3,HGNC:29101 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,STIL,[MCPH7],STIL centriolar assembly protein,gene with protein product,1p33,Disease-causing germline mutation(s) in,Assessed,,181590,ENSG00000123473,,Q15468,Q15468,HGNC:10879 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,PHC1,"[HPH1, RAE28]",polyhomeotic homolog 1,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,,602978,ENSG00000111752,,P78364,P78364,HGNC:3182 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,CEP135,[FLJ13621],centrosomal protein 135,gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,,611423,ENSG00000174799,,Q66GS9,Q66GS9,HGNC:29086 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,KIF14,[KIAA0042],kinesin family member 14,gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28892560],611279,ENSG00000118193,,Q15058,Q15058,HGNC:19181 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,CEP63,[FLJ13386],centrosomal protein 63,gene with protein product,3q22.2,Disease-causing germline mutation(s) in,Assessed,,614724,ENSG00000182923,,Q96MT8,Q96MT8,HGNC:25815 +GARD:0012117,Orphanet,2512,ORPHA:2512,23,CEP152,"[KIAA0912, MCPH9, SCKL5, asterless]",centrosomal protein 152,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,,613529,ENSG00000103995,,O94986,O94986,HGNC:29298 +GARD:0012128,Orphanet,79282,ORPHA:79282,1,MMACHC,"[DKFZP564I122, cblC]",metabolism of cobalamin associated C,gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:16311595, PMID:21497120]",609831,ENSG00000132763,,Q9Y4U1,Q9Y4U1,HGNC:24525 +GARD:0012162,Orphanet,97239,ORPHA:97239,1,FHL1,"[FHL1B, FLH1A, Four-and-a-half LIM domains 1, KYO-T, LIM protein SLIMMER, MGC111107, SLIM1, XMPMA, bA535K18.1]",four and a half LIM domains 1,gene with protein product,Xq26.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18274675],300163,ENSG00000022267,,Q13642,Q13642,HGNC:3702 +GARD:0012163,Orphanet,209905,ORPHA:209905,1,NKX2-1,"[TTF-1, TTF1]",NK2 homeobox 1,gene with protein product,14q13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:24129101, PMID:24555207]",600635,ENSG00000136352,,P43699,P43699,HGNC:11825 +GARD:0012166,Orphanet,228384,ORPHA:228384,1,MEF2C,,myocyte enhancer factor 2C,gene with protein product,5q14.3,Role in the phenotype of,Assessed,[PMID:20513142],600662,ENSG00000081189,,Q06413,Q06413,HGNC:6996 +GARD:0012173,Orphanet,505652,ORPHA:505652,1,CDKL5,"[CFAP247, EIEE2]",cyclin dependent kinase like 5,gene with protein product,Xp22.13,Disease-causing germline mutation(s) in,Assessed,[PMID:22872100],300203,ENSG00000008086,1986,O76039,O76039,HGNC:11411 +GARD:0012199,Orphanet,439212,ORPHA:439212,1,MEGF10,"[KIAA1780, SR-F3]",multiple EGF like domains 10,gene with protein product,5q23.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22101682, PMID:23453856]",612453,ENSG00000145794,,Q96KG7,,HGNC:29634 +GARD:0012219,Orphanet,94065,ORPHA:94065,1,SIN3A,"[DKFZP434K2235, KIAA0700]",SIN3 transcription regulator family member A,gene with protein product,15q24.2,Role in the phenotype of,Assessed,[PMID:27399968],607776,ENSG00000169375,,Q96ST3,Q96ST3,HGNC:19353 +GARD:0012232,Orphanet,284324,ORPHA:284324,1,TPP1,"[LPIC, TPP I, TPP-1, lysosomal pepstatin-insensitive carboxypeptidase]",tripeptidyl peptidase 1,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:23418007],607998,ENSG00000166340,,O14773,O14773,HGNC:2073 +GARD:0012234,Orphanet,88644,ORPHA:88644,1,SYNE1,"[8B, ARCA1, CPG2, Enaptin, KIAA0796, MYNE1, Nesp1, Nesprin-1, SCAR8, SYNE-1B, dJ45H2.2, enaptin, myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1]",spectrin repeat containing nuclear envelope protein 1,gene with protein product,6q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17159980],608441,ENSG00000131018,,Q8NF91,Q8NF91,HGNC:17089 +GARD:0012241,Orphanet,309015,ORPHA:309015,1,LPL,,lipoprotein lipase,gene with protein product,8p21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24589565],609708,ENSG00000175445,,P06858,P06858,HGNC:6677 +GARD:0012251,Orphanet,1885,ORPHA:1885,2,ADAMTSL4,[DKFZP434K1772],ADAMTS like 4,gene with protein product,1q21.2,Disease-causing germline mutation(s) in,Assessed,,610113,ENSG00000143382,,Q6UY14,Q6UY14,HGNC:19706 +GARD:0012251,Orphanet,1885,ORPHA:1885,2,FBN1,"[MASS, Marfan syndrome, OCTD, SGS, asprosin]",fibrillin 1,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,,134797,ENSG00000166147,,P35555,P35555,HGNC:3603 +GARD:0012264,Orphanet,36383,ORPHA:36383,1,COL4A1,,collagen type IV alpha 1 chain,gene with protein product,13q34,Disease-causing germline mutation(s) in,Assessed,[PMID:23065703],120130,ENSG00000187498,,P02462,P02462,HGNC:2202 +GARD:0012267,Orphanet,88642,ORPHA:88642,3,SCN11A,"[NaN, Nav1.9, SNS-2]",sodium voltage-gated channel alpha subunit 11,gene with protein product,3p22.2,Candidate gene tested in,Not yet assessed,,604385,ENSG00000168356,586,Q9UI33,Q9UI33,HGNC:10583 +GARD:0012267,Orphanet,88642,ORPHA:88642,3,SCN9A,"[ETHA, NE-NA, NENA, Nav1.7, PN1]",sodium voltage-gated channel alpha subunit 9,gene with protein product,2q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20529343],603415,ENSG00000169432,584,Q15858,Q15858,HGNC:10597 +GARD:0012267,Orphanet,88642,ORPHA:88642,3,SCN10A,"[Nav1.8, PN3, SNS, hPN3, peripheral nerve sodium channel 3, sensory neuron sodium channel]",sodium voltage-gated channel alpha subunit 10,gene with protein product,3p22.2,Candidate gene tested in,Not yet assessed,,604427,ENSG00000185313,585,Q9Y5Y9,Q9Y5Y9,HGNC:10582 +GARD:0012281,Orphanet,435988,ORPHA:435988,1,SGO1,[NY-BR-85],shugoshin 1,gene with protein product,3p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25282101],609168,ENSG00000129810,,Q5FBB7,Q5FBB7,HGNC:25088 +GARD:0012299,Orphanet,75374,ORPHA:75374,2,RGS9BP,"[FLJ45744, PERRS, R9AP, RGS9]",regulator of G protein signaling 9 binding protein,gene with protein product,19q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:14702087],607814,ENSG00000186326,,Q6ZS82,Q6ZS82,HGNC:30304 +GARD:0012299,Orphanet,75374,ORPHA:75374,2,RGS9,"[MGC111763, MGC26458, PERRS, RGS9L, regulator of G protein signalling 9, regulator of G protein signalling 9L, regulator of G-protein signaling 9L]",regulator of G protein signaling 9,gene with protein product,17q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:14702087],604067,ENSG00000108370,2817,O75916,O75916,HGNC:10004 +GARD:0012301,Orphanet,614,ORPHA:614,1,CLCN1,"[CLC1, ClC-1, Thomsen disease, autosomal dominant]",chloride voltage-gated channel 1,gene with protein product,7q34,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301529],118425,ENSG00000188037,698,P35523,P35523,HGNC:2019 +GARD:0012311,Orphanet,53690,ORPHA:53690,1,LCT,,lactase,gene with protein product,2q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:16400612],603202,ENSG00000115850,,P09848,P09848,HGNC:6530 +GARD:0012312,Orphanet,85173,ORPHA:85173,2,CDKN1C,"[KIP2, P57]",cyclin dependent kinase inhibitor 1C,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:22634751],600856,ENSG00000129757,,P49918,P49918,HGNC:1786 +GARD:0012312,Orphanet,85173,ORPHA:85173,2,POLE,"[DNA polymerase epsilon catalytic subunit A, POLE1]","DNA polymerase epsilon, catalytic subunit",gene with protein product,12q24.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30503519],174762,ENSG00000177084,,Q07864,Q07864,HGNC:9177 +GARD:0012314,Orphanet,391487,ORPHA:391487,2,STAT1,"[ISGF-3, STAT91, transcription factor ISGF-3 components p91/p84]",signal transducer and activator of transcription 1,gene with protein product,2q32.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23534974],600555,ENSG00000115415,,P42224,P42224,HGNC:11362 +GARD:0012314,Orphanet,391487,ORPHA:391487,2,TOM1,,target of myb1 membrane trafficking protein,gene with protein product,22q12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31263572],604700,ENSG00000100284,,O60784,O60784,HGNC:11982 +GARD:0012315,Orphanet,404454,ORPHA:404454,1,NGLY1,"[FLJ11005, PNG-1, PNG1, peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase, peptide:N-glycanase]",N-glycanase 1,gene with protein product,3p24.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24651605],610661,ENSG00000151092,,Q96IV0,Q96IV0,HGNC:17646 +GARD:0012316,Orphanet,436159,ORPHA:436159,1,CTLA4,"[CD, CD152, CTLA-4, GSE]",cytotoxic T-lymphocyte associated protein 4,gene with protein product,2q33.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25213377],123890,ENSG00000163599,2743,P16410,P16410,HGNC:2505 +GARD:0012328,Orphanet,64752,ORPHA:64752,2,NGF,,nerve growth factor,gene with protein product,1p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:14976160],162030,ENSG00000134259,,P01138,P01138,HGNC:7808 +GARD:0012328,Orphanet,64752,ORPHA:64752,2,NTRK1,"[MTC, TRK, TRKA, high affinity nerve growth factor receptor]",neurotrophic receptor tyrosine kinase 1,gene with protein product,1q23.1,Candidate gene tested in,Not yet assessed,[PMID:11310631],191315,ENSG00000198400,1817,P04629,P04629,HGNC:8031 +GARD:0012338,Orphanet,859,ORPHA:859,1,TCN2,"[D22S676, D22S750, TC2, macrocytic anemia]",transcobalamin 2,gene with protein product,22q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20607612],613441,ENSG00000185339,,P20062,P20062,HGNC:11653 +GARD:0012347,Orphanet,38874,ORPHA:38874,1,DPYS,[DHPase],dihydropyrimidinase,gene with protein product,8q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20362666, PMID:9718352]",613326,ENSG00000147647,,Q14117,Q14117,HGNC:3013 +GARD:0012348,Orphanet,263487,ORPHA:263487,1,COG5,[GTC90],component of oligomeric golgi complex 5,gene with protein product,7q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301507],606821,ENSG00000164597,,Q9UP83,Q9UP83,HGNC:14857 +GARD:0012351,Orphanet+OMIM,604370,OMIM:604370,1,BRCA1,"[BRCA1/BRCA2-containing complex, BRCC1, FANCS, Fanconi anemia, PPP1R53, RNF53, complementation group S, protein phosphatase 1, regulatory subunit 53, subunit 1]",BRCA1 DNA repair associated,gene with protein product,17q21.31,The molecular basis of the disorder is known,Unknown,,113705,ENSG00000012048,,P38398,P38398,HGNC:1100 +GARD:0012352,Orphanet+OMIM,612555,OMIM:612555,1,BRCA2,"[BRCA1/BRCA2-containing complex, BRCC2, FAD, FAD1, XRCC11, subunit 2]",BRCA2 DNA repair associated,gene with protein product,13q13.1,The molecular basis of the disorder is known,Unknown,,600185,ENSG00000139618,,P51587,P51587,HGNC:1101 +GARD:0012353,Orphanet,324442,ORPHA:324442,1,HINT1,[PKCI-1],histidine triad nucleotide binding protein 1,gene with protein product,5q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22961002],601314,ENSG00000169567,,P49773,,HGNC:4912 +GARD:0012354,Orphanet,93610,ORPHA:93610,1,SLC4A1,"[CD233, FR, Froese blood group, RTA1A, SW, Swann blood group, WR, Wright blood group]",solute carrier family 4 member 1 (Diego blood group),gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,,109270,ENSG00000004939,904,P02730,P02730,HGNC:11027 +GARD:0012356,Orphanet+OMIM,615582,OMIM:615582,1,TGFB3,[prepro-transforming growth factor beta-3],transforming growth factor beta 3,gene with protein product,14q24.3,The molecular basis of the disorder is known,Unknown,,190230,ENSG00000119699,ligandId:5062,P10600,P10600,HGNC:11769 +GARD:0012357,Orphanet,425120,ORPHA:425120,1,STING1,"[ERIS, FLJ38577, MITA, MPYS, NET23, STING, endoplasmic reticulum IFN stimulator, stimulator of interferon genes]",stimulator of interferon response cGAMP interactor 1,gene with protein product,5q31.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25029335],612374,ENSG00000184584,2902,Q86WV6,Q86WV6,HGNC:27962 +GARD:0012360,Orphanet,83642,ORPHA:83642,1,SLC11A2,"[DCT1, DMT1]",solute carrier family 11 member 2,gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:16160008, PMID:16439678]",600523,ENSG00000110911,967,P49281,P49281,HGNC:10908 +GARD:0012362,Orphanet,251274,ORPHA:251274,1,KCNJ5,"[CIR, G protein-activated inward rectifier potassium channel 4, GIRK4, KATP1, Kir3.4, LQT13]",potassium inwardly rectifying channel subfamily J member 5,gene with protein product,11q24.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24817817],600734,ENSG00000120457,437,P48544,P48544,HGNC:6266 +GARD:0012365,Orphanet,98772,ORPHA:98772,1,KCND3,"[KSHIVB, Kv4.3]",potassium voltage-gated channel subfamily D member 3,gene with protein product,1p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22890214],605411,ENSG00000171385,554,Q9UK17,Q9UK17,HGNC:6239 +GARD:0012366,Orphanet,276193,ORPHA:276193,1,TGM6,"[SCA35, TGY, dJ734P14.3, protein-glutamine gamma-glutamyltransferase 6, spinocerebellar ataxia 35]",transglutaminase 6,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,,613900,ENSG00000166948,,O95932,,HGNC:16255 +GARD:0012367,Orphanet,276198,ORPHA:276198,1,NOP56,"[SCA36, spinocerebellar ataxia 36]",NOP56 ribonucleoprotein,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,,614154,ENSG00000101361,,O00567,O00567,HGNC:15911 +GARD:0012368,Orphanet,363710,ORPHA:363710,2,DAB1,,DAB adaptor protein 1,gene with protein product,1p32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28686858],603448,ENSG00000173406,,O75553,O75553,HGNC:2661 +GARD:0012368,Orphanet,363710,ORPHA:363710,2,SCA37,,spinocerebellar ataxia 37,Disorder-associated locus,1p32,Disease-causing germline mutation(s) in,Assessed,[PMID:23700170],,,,,,HGNC:43726 +GARD:0012369,Orphanet,423296,ORPHA:423296,1,ELOVL5,"[HELO1, dJ483K16.1]",ELOVL fatty acid elongase 5,gene with protein product,6p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25065913],611805,ENSG00000012660,,Q9NYP7,Q9NYP7,HGNC:21308 +GARD:0012371,Orphanet,423275,ORPHA:423275,1,CCDC88C,"[DAPLE, Dvl-associating protein with a high frequency of leucine residues, HkRP2, SCA40, spinocerebellar ataxia 40]",coiled-coil domain containing 88C,gene with protein product,14q32.11-q32.12,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25062847],611204,ENSG00000015133,,Q9P219,Q9P219,HGNC:19967 +GARD:0012372,Orphanet,314404,ORPHA:314404,1,DNMT1,"[CXXC9, MCMT]",DNA methyltransferase 1,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22328086],126375,ENSG00000130816,2605,P26358,P26358,HGNC:2976 +GARD:0012375,Orphanet,228000,ORPHA:228000,1,UNC119,"[HRG4, POC7, POC7 centriolar protein homolog A (Chlamydomonas), POC7A]",unc-119 lipid binding chaperone,gene with protein product,17q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22184408],604011,ENSG00000109103,3011,Q13432,Q13432,HGNC:12565 +GARD:0012382,Orphanet,168593,ORPHA:168593,1,TSPYL1,,TSPY like 1,gene with protein product,6q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:15273283],604714,ENSG00000189241,,Q9H0U9,,HGNC:12382 +GARD:0012383,Orphanet,404553,ORPHA:404553,1,ADA2,[ADGF],adenosine deaminase 2,gene with protein product,22q11.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:24552284, PMID:24552285]",607575,ENSG00000093072,,Q9NZK5,Q9NZK5,HGNC:1839 +GARD:0012384,Orphanet,324561,ORPHA:324561,1,ENPP1,"[PC-1, PCA1]",ectonucleotide pyrophosphatase/phosphodiesterase 1,gene with protein product,6q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24075184],173335,ENSG00000197594,,P22413,P22413,HGNC:3356 +GARD:0012385,Orphanet,137893,ORPHA:137893,4,DNAH10,[FLJ43808],dynein axonemal heavy chain 10,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:34237282],605884,ENSG00000197653,,Q8IVF4,,HGNC:2941 +GARD:0012385,Orphanet,137893,ORPHA:137893,4,AURKC,"[ARK3, AurC]",aurora kinase C,gene with protein product,19q13.43,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:17435757, PMID:21733974]",603495,ENSG00000105146,1938,Q9UQB9,Q9UQB9,HGNC:11391 +GARD:0012385,Orphanet,137893,ORPHA:137893,4,CFAP47,"[FLJ36601, MGC34831, RP13-11B7.1]",cilia and flagella associated protein 47,gene with protein product,Xp21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:33472045],301057,ENSG00000165164,,Q6ZTR5,,HGNC:26708 +GARD:0012385,Orphanet,137893,ORPHA:137893,4,DNHD1,,dynein heavy chain domain 1,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:34932939],,,,,,HGNC:26532 +GARD:0012391,Orphanet+OMIM,616056,OMIM:616056,1,KCNB1,[Kv2.1],potassium voltage-gated channel subfamily B member 1,gene with protein product,20q13.13,The molecular basis of the disorder is known,Unknown,,600397,ENSG00000158445,objectId:546,Q14721,Q14721,HGNC:6231 +GARD:0012393,Orphanet,91131,ORPHA:91131,1,DOLK,"[DK1, KIAA1094, dolichol kinase 1]",dolichol kinase,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301507],610746,ENSG00000175283,,Q9UPQ8,Q9UPQ8,HGNC:23406 +GARD:0012394,Orphanet,244310,ORPHA:244310,1,RFT1,"[CDG1N, congenital disorder of glycosylation 1N]",RFT1 homolog,gene with protein product,3p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301507],611908,ENSG00000163933,,Q96AA3,Q96AA3,HGNC:30220 +GARD:0012395,Orphanet,263494,ORPHA:263494,1,DPM3,"[DPM synthase complex subunit, MGC125904, MGC125905, MGC34275]","dolichyl-phosphate mannosyltransferase subunit 3, regulatory",gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:20301507],605951,ENSG00000179085,,Q9P2X0,Q9P2X0,HGNC:3007 +GARD:0012396,Orphanet,280071,ORPHA:280071,1,ALG11,"[CDG1P, GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase, KIAA0266]","ALG11 alpha-1,2-mannosyltransferase",gene with protein product,13q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20080937],613666,ENSG00000253710,,Q2TAA5,Q2TAA5,HGNC:32456 +GARD:0012397,Orphanet,324737,ORPHA:324737,1,SRD5A3,"[3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+)), FLJ13352, SRD5A2L, SRD5A2L1, polyprenol reductase]",steroid 5 alpha-reductase 3,gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,[PMID:20637498],611715,ENSG00000128039,,Q9H8P0,Q9H8P0,HGNC:25812 +GARD:0012398,Orphanet,300536,ORPHA:300536,1,DDOST,"[GATD6, KIAA0115, OST, OST48, WBP1, advanced glycation end-product receptor 1, oligosaccharyltransferase subunit 48]",dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit,gene with protein product,1p36.12,Disease-causing germline mutation(s) in,Assessed,[PMID:22305527],602202,ENSG00000244038,,P39656,P39656,HGNC:2728 +GARD:0012401,Orphanet,324422,ORPHA:324422,1,ALG13,"[CDG1S, FLJ23018, MDS031, N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase, TDRD13, Tudor domain containing 13, YGL047W, tudor domain containing 13]",ALG13 UDP-N-acetylglucosaminyltransferase subunit,gene with protein product,Xq23,Disease-causing germline mutation(s) in,Assessed,[PMID:22492991],300776,ENSG00000101901,,Q9NP73,Q9NP73,HGNC:30881 +GARD:0012403,Orphanet,356961,ORPHA:356961,1,SLC35A2,"[UGAT, UGT, UGT1, UGT2, UGTL]",solute carrier family 35 member A2,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:23561849],314375,ENSG00000102100,1139,P78381,P78381,HGNC:11022 +GARD:0012404,Orphanet+OMIM,615510,OMIM:615510,1,GMPPA,,GDP-mannose pyrophosphorylase A,gene with protein product,2q35,The molecular basis of the disorder is known,Unknown,,615495,ENSG00000144591,,Q96IJ6,Q96IJ6,HGNC:22923 +GARD:0012405,Orphanet,370927,ORPHA:370927,1,SSR4,"[TRAPD, translocon-associated protein delta]",signal sequence receptor subunit 4,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:24218363],300090,ENSG00000180879,,P51571,P51571,HGNC:11326 +GARD:0012409,Orphanet,238459,ORPHA:238459,1,SLC35A1,"[CMPST, hCST]",solute carrier family 35 member A1,gene with protein product,6q15,Disease-causing germline mutation(s) in,Assessed,[PMID:20301507],605634,ENSG00000164414,1138,P78382,P78382,HGNC:11021 +GARD:0012411,Orphanet,95428,ORPHA:95428,1,COG8,"[DOR1, FLJ22315]",component of oligomeric golgi complex 8,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17331980],606979,ENSG00000213380,,Q96MW5,Q96MW5,HGNC:18623 +GARD:0012412,Orphanet,263501,ORPHA:263501,1,COG4,"[COD1, DKFZP586E1519]",component of oligomeric golgi complex 4,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301507],606976,ENSG00000103051,,Q9H9E3,Q9H9E3,HGNC:18620 +GARD:0012413,Orphanet,314667,ORPHA:314667,1,TMEM165,"[GDT1, SLC64A1, TMPT27, TPA regulated locus, TPARL]",transmembrane protein 165,gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,[PMID:22683087],614726,ENSG00000134851,3050,Q9HC07,,HGNC:30760 +GARD:0012416,Orphanet,329178,ORPHA:329178,1,DPM2,"[DPM synthase complex subunit, MGC111193, MGC21559]","dolichyl-phosphate mannosyltransferase subunit 2, regulatory",gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,[PMID:23109149],603564,ENSG00000136908,,O94777,O94777,HGNC:3006 +GARD:0012417,Orphanet,397941,ORPHA:397941,1,MAN1B1,"['alpha 1,2-mannosidase', 'endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1', Alpha 1,2-mannosidase, ER alpha 1,2-mannosidase, ERManI, Endoplasmic reticulum alpha-mannosidase 1, Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1, MANA-ER, MRT15, Man9GlcNAc2-specific processing alpha-mannosidase, endoplasmic Reticulum Class I alpha-mannosidase, endoplasmic reticulum alpha-mannosidase 1]",mannosidase alpha class 1B member 1,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24348268],604346,ENSG00000177239,,Q9UKM7,Q9UKM7,HGNC:6823 +GARD:0012426,Orphanet,1229,ORPHA:1229,1,OCLN,"[PPP1R115, phosphatase 1, regulatory subunit 115, tight junction protein occludin TM4 minus]",occludin,gene with protein product,5q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20727516],602876,ENSG00000197822,,Q16625,Q16625,HGNC:8104 +GARD:0012429,Orphanet,228174,ORPHA:228174,1,AARS1,"[AlaRS, CMT2N, alanine tRNA ligase 1, cytoplasmic]",alanyl-tRNA synthetase 1,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],601065,ENSG00000090861,,P49588,P49588,HGNC:20 +GARD:0012432,Orphanet,99945,ORPHA:99945,1,HSPB8,"[CMT2L, E2IG1, H11, HSP22, HspB8]",heat shock protein family B (small) member 8,gene with protein product,12q24.23,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],608014,ENSG00000152137,,Q9UJY1,Q9UJY1,HGNC:30171 +GARD:0012434,Orphanet,284232,ORPHA:284232,1,DYNC1H1,"[CMT2O, DHC1, Dnchc1, HL-3, p22]",dynein cytoplasmic 1 heavy chain 1,gene with protein product,14q32.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301462, PMID:21820100]",600112,ENSG00000197102,,Q14204,Q14204,HGNC:2961 +GARD:0012435,Orphanet,300319,ORPHA:300319,1,LRSAM1,"[CMT2P, E3 ubiquitin-protein ligase LRSAM1, FLJ31641, RIFLE, RING finger leucine repeat rich, TAL, TSG 101-associated ligase]",leucine rich repeat and sterile alpha motif containing 1,gene with protein product,9q33.3-q34.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],610933,ENSG00000148356,,Q6UWE0,Q6UWE0,HGNC:25135 +GARD:0012438,Orphanet,100044,ORPHA:100044,1,DNM2,"[CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, cytoskeletal protein, dynamin II]",dynamin 2,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15731758, PMID:20614582]",602378,ENSG00000079805,,P50570,P50570,HGNC:2974 +GARD:0012439,Orphanet,100045,ORPHA:100045,1,YARS1,"[YRS, YTS, tyrRS, tyrosine tRNA ligase 1, cytoplasmic]",tyrosyl-tRNA synthetase 1,gene with protein product,1p35.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16429158],603623,ENSG00000134684,,P54577,P54577,HGNC:12840 +GARD:0012441,Orphanet,99952,ORPHA:99952,1,PRX,[KIAA1620],periaxin,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301641],605725,ENSG00000105227,,Q9BXM0,,HGNC:13797 +GARD:0012442,Orphanet,99954,ORPHA:99954,1,FGD4,"[CMT4H, FRABP, Frabin, ZFYVE6, frabin]","FYVE, RhoGEF and PH domain containing 4",gene with protein product,12p11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301641, PMID:23926620]",611104,ENSG00000139132,,Q96M96,Q96M96,HGNC:19125 +GARD:0012443,Orphanet,139515,ORPHA:139515,1,FIG4,"[ALS11, CMT4J, SAC3, dJ249I4.1, hSac3]",FIG4 phosphoinositide 5-phosphatase,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301641, PMID:24228289]",609390,ENSG00000112367,,Q92562,Q92562,HGNC:16873 +GARD:0012445,Orphanet,352675,ORPHA:352675,1,PDK3,,pyruvate dehydrogenase kinase 3,gene with protein product,Xp22.11,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23297365],300906,ENSG00000067992,2143,Q15120,Q15120,HGNC:8811 +GARD:0012446,Orphanet,329258,ORPHA:329258,1,DHTKD1,"[CMT2Q, DKFZP762M115, KIAA1630, MGC3090]",dehydrogenase E1 and transketolase domain containing 1,gene with protein product,10p14,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23141294],614984,ENSG00000181192,,Q96HY7,Q96HY7,HGNC:23537 +GARD:0012447,Orphanet,401964,ORPHA:401964,1,DCAF8,"[FLJ35857, H326]",DDB1 and CUL4 associated factor 8,gene with protein product,1q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24500646],615820,ENSG00000132716,,Q5TAQ9,Q5TAQ9,HGNC:24891 +GARD:0012448,Orphanet,101097,ORPHA:101097,1,GDAP1,"[CMT2K, CMT4]",ganglioside induced differentiation associated protein 1,gene with protein product,8q21.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],606598,ENSG00000104381,,Q8TB36,,HGNC:15968 +GARD:0012451,Orphanet,397968,ORPHA:397968,1,TRIM2,"[CMT2R, KIAA0517, RNF86]",tripartite motif containing 2,gene with protein product,4q31.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23562820],614141,ENSG00000109654,,Q9C040,Q9C040,HGNC:15974 +GARD:0012453,Orphanet,217055,ORPHA:217055,1,GDAP1,"[CMT2K, CMT4]",ganglioside induced differentiation associated protein 1,gene with protein product,8q21.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:12499475, PMID:12566285]",606598,ENSG00000104381,,Q8TB36,,HGNC:15968 +GARD:0012454,Orphanet,254334,ORPHA:254334,1,KARS1,"[KARS1, KARS2, lysine tRNA ligase]",lysyl-tRNA synthetase 1,gene with protein product,16q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20920668],601421,ENSG00000065427,,Q15046,Q15046,HGNC:6215 +GARD:0012458,Orphanet,251370,ORPHA:251370,1,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:20301551],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0012469,Orphanet,35706,ORPHA:35706,1,SUGCT,"[DERP13, FLJ11808, ORF19, Russel-Silver syndrome candidate, dermal papilla derived protein 13, succinate-hydroxymethylglutarate CoA-transferase]",succinyl-CoA:glutarate-CoA transferase,gene with protein product,7p14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18926513],609187,ENSG00000175600,,Q9HAC7,,HGNC:16001 +GARD:0012471,Orphanet,163684,ORPHA:163684,1,SCP2,,sterol carrier protein 2,gene with protein product,1p32.3,Disease-causing germline mutation(s) in,Assessed,[PMID:16685654],184755,ENSG00000116171,,P22307,P22307,HGNC:10606 +GARD:0012472,Orphanet,369942,ORPHA:369942,2,ABCD1,"[ALDP, AMN, adrenoleukodystrophy]",ATP binding cassette subfamily D member 1,gene with protein product,Xq28,Role in the phenotype of,Assessed,"[PMID:11992258, PMID:22994209]",300371,ENSG00000101986,788,P33897,P33897,HGNC:61 +GARD:0012472,Orphanet,369942,ORPHA:369942,2,BCAP31,"[6C6-Ag, BAP31, CDM, DXS1357E]",B cell receptor associated protein 31,gene with protein product,Xq28,Role in the phenotype of,Assessed,[PMID:22994209],300398,ENSG00000185825,,P51572,P51572,HGNC:16695 +GARD:0012474,Orphanet,75392,ORPHA:75392,2,C1R,,complement C1r,gene with protein product,12p13.31,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:27745832],613785,ENSG00000159403,2334,P00736,P00736,HGNC:1246 +GARD:0012474,Orphanet,75392,ORPHA:75392,2,C1S,,complement C1s,gene with protein product,12p13.31,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:27745832],120580,ENSG00000182326,2335,P09871,P09871,HGNC:1247 +GARD:0012478,Orphanet,36355,ORPHA:36355,1,P2RY12,"[HORK3, P2Y12, SP1999]",purinergic receptor P2Y12,gene with protein product,3q25.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:11196645, PMID:12578987]",600515,ENSG00000169313,328,Q9H244,Q9H244,HGNC:18124 +GARD:0012486,Orphanet,52055,ORPHA:52055,1,IGBP1,"[a4, alpha 4]",immunoglobulin binding protein 1,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:14556245],300139,ENSG00000089289,,P78318,P78318,HGNC:5461 +GARD:0012491,Orphanet,452,ORPHA:452,1,ARX,"[CT121, EIEE1, ISSX, cancer/testis antigen 121]",aristaless related homeobox,gene with protein product,Xp21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12379852, PMID:12874405]",300382,ENSG00000004848,,Q96QS3,,HGNC:18060 +GARD:0012492,Orphanet,261295,ORPHA:261295,1,BMP2,,bone morphogenetic protein 2,gene with protein product,20p12.3,Role in the phenotype of,Assessed,"[PMID:18812404, PMID:21671386]",112261,ENSG00000125845,,P12643,P12643,HGNC:1069 +GARD:0012494,Orphanet,178345,ORPHA:178345,1,CYP19A1,"[ARO, ARO1, CPV1, CYAR, P-450AROM, aromatase]",cytochrome P450 family 19 subfamily A member 1,gene with protein product,15q21.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:21470988, PMID:22319526, PMID:24064691]",107910,ENSG00000137869,1362,P11511,P11511,HGNC:2594 +GARD:0012501,Orphanet,391372,ORPHA:391372,1,FOXP1,"[12CC4, HSPC215, PAX5/FOXP1 fusion protein, QRF1, fork head-related protein like B, glutamine-rich factor 1, hFKH1B]",forkhead box P1,gene with protein product,3p13,Disease-causing germline mutation(s) in,Assessed,[PMID:24214399],605515,ENSG00000114861,,Q9H334,Q9H334,HGNC:3823 +GARD:0012502,Orphanet,171709,ORPHA:171709,4,SPATA16,[NYD-SP12],spermatogenesis associated 16,gene with protein product,3q26.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:17847006, PMID:22571172]",609856,ENSG00000144962,,Q9BXB7,,HGNC:29935 +GARD:0012502,Orphanet,171709,ORPHA:171709,4,DPY19L2,"[FLJ32949, SPATA34, spermatogenesis associated 34]",dpy-19 like 2,gene with protein product,12q14.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21397063, PMID:22571172]",613893,ENSG00000177990,,Q6NUT2,,HGNC:19414 +GARD:0012502,Orphanet,171709,ORPHA:171709,4,GOPC,"[CAL, FIG, GOPC1, PIST, dJ94G16.2]",golgi associated PDZ and coiled-coil motif containing,gene with protein product,6q22.1,Candidate gene tested in,Not yet assessed,[PMID:22049801],606845,ENSG00000047932,,Q9HD26,Q9HD26,HGNC:17643 +GARD:0012502,Orphanet,171709,ORPHA:171709,4,PICK1,"[MGC15204, dJ1039K5]",protein interacting with PRKCA 1,gene with protein product,22q13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20562896, PMID:22571172]",605926,ENSG00000100151,,Q9NRD5,Q9NRD5,HGNC:9394 +GARD:0012503,Orphanet,309252,ORPHA:309252,1,PSAP,"[saposin-A, saposin-B, saposin-C, saposin-D, variant Gaucher disease and variant metachromatic leukodystrophy]",prosaposin,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,,176801,ENSG00000197746,,P07602,P07602,HGNC:9498 +GARD:0012504,Orphanet,2072,ORPHA:2072,1,GBA,"[GBA1, glucocerebrosidase]",glucosylceramidase beta,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:10636167, PMID:20301446]",606463,ENSG00000177628,2978,P04062,P04062,HGNC:4177 +GARD:0012505,Orphanet,139406,ORPHA:139406,1,PSAP,"[saposin-A, saposin-B, saposin-C, saposin-D, variant Gaucher disease and variant metachromatic leukodystrophy]",prosaposin,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:1371116],176801,ENSG00000197746,,P07602,P07602,HGNC:9498 +GARD:0012525,Orphanet,306617,ORPHA:306617,1,L1CAM,"[CAML1, CD171, NCAM-L1, neural cell adhesion molecule L1]",L1 cell adhesion molecule,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301657],308840,ENSG00000198910,,P32004,P32004,HGNC:6470 +GARD:0012526,Orphanet,1497,ORPHA:1497,1,L1CAM,"[CAML1, CD171, NCAM-L1, neural cell adhesion molecule L1]",L1 cell adhesion molecule,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301657],308840,ENSG00000198910,,P32004,P32004,HGNC:6470 +GARD:0012528,Orphanet,34516,ORPHA:34516,1,DNAJB6,[MRJ],DnaJ heat shock protein family (Hsp40) member B6,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:22334415, PMID:22366786]",611332,ENSG00000105993,,O75190,O75190,HGNC:14888 +GARD:0012530,Orphanet,55595,ORPHA:55595,1,TNPO3,"[IPO12, MTR10A, TRN-SR, TRN-SR2, importin 12]",transportin 3,gene with protein product,7q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23543484],610032,ENSG00000064419,,Q9Y5L0,,HGNC:17103 +GARD:0012531,Orphanet,55596,ORPHA:55596,1,HNRNPDL,"[JKTBP, laAUF1]",heterogeneous nuclear ribonucleoprotein D like,gene with protein product,4q21.22,Disease-causing germline mutation(s) in,Assessed,[PMID:24647604],607137,ENSG00000152795,,O14979,O14979,HGNC:5037 +GARD:0012533,Orphanet,34515,ORPHA:34515,1,FKRP,"[FKTR, LGMD2I, MDC1C]",fukutin related protein,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],606596,ENSG00000181027,,Q9H9S5,,HGNC:17997 +GARD:0012534,Orphanet,140922,ORPHA:140922,1,TTN,"[CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD]",titin,gene with protein product,2q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],188840,ENSG00000155657,2265,Q8WZ42,Q8WZ42,HGNC:12403 +GARD:0012535,Orphanet,86812,ORPHA:86812,1,POMT1,"[LGMD2K, dolichyl-phosphate-mannose-protein mannosyltransferase]",protein O-mannosyltransferase 1,gene with protein product,9q34.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],607423,ENSG00000130714,,Q9Y6A1,Q9Y6A1,HGNC:9202 +GARD:0012536,Orphanet,206549,ORPHA:206549,1,ANO5,[GDD1],anoctamin 5,gene with protein product,11p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],608662,ENSG00000171714,,Q75V66,Q75V66,HGNC:27337 +GARD:0012538,Orphanet,206554,ORPHA:206554,1,FKTN,[LGMD2M],fukutin,gene with protein product,9q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],607440,ENSG00000106692,,O75072,,HGNC:3622 +GARD:0012539,Orphanet,206559,ORPHA:206559,1,POMT2,"[Dolichyl-phosphate-mannose--protein mannosyltransferase, LGMD2N]",protein O-mannosyltransferase 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],607439,ENSG00000009830,,Q9UKY4,Q9UKY4,HGNC:19743 +GARD:0012540,Orphanet,206564,ORPHA:206564,1,POMGNT1,"[FLJ20277, LGMD2O, MGAT1.2, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase]","protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18195152, PMID:20301582]",606822,ENSG00000085998,,Q8WZA1,Q8WZA1,HGNC:19139 +GARD:0012541,Orphanet,280333,ORPHA:280333,1,DAG1,"[156DAG, A3a, AGRNR, DAG, alpha-dystroglycan, beta-dystroglycan, dystrophin-associated glycoprotein-1]",dystroglycan 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:14678799, PMID:21388311]",128239,ENSG00000173402,,Q14118,Q14118,HGNC:2666 +GARD:0012542,Orphanet,254361,ORPHA:254361,1,PLEC,"[PCN, PLTN]",plectin,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],601282,ENSG00000178209,,Q15149,Q15149,HGNC:9069 +GARD:0012543,Orphanet,369840,ORPHA:369840,1,TRAPPC11,"[FLJ12716, foie gras homolog (zebrafish), foigr, gry, gryzun homolog (Drosophila)]",trafficking protein particle complex subunit 11,gene with protein product,4q35.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23830518],614138,ENSG00000168538,,Q7Z392,Q7Z392,HGNC:25751 +GARD:0012544,Orphanet,363623,ORPHA:363623,1,GMPPB,"[KIAA1851, mannose-1-phosphate guanyltransferase beta]",GDP-mannose pyrophosphorylase B,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:23768512],615320,ENSG00000173540,,Q9Y5P6,Q9Y5P6,HGNC:22932 +GARD:0012550,Orphanet,289465,ORPHA:289465,1,SMARCAD1,"[DKFZP762K2015, DKFZp762K2015, ETL1, KIAA1122]","SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1",gene with protein product,4q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21820097],612761,ENSG00000163104,,Q9H4L7,,HGNC:18398 +GARD:0012551,Orphanet,238722,ORPHA:238722,4,NTN1,"[NTN1L, Netrin-1]",netrin 1,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28945198],601614,ENSG00000065320,,O95631,O95631,HGNC:8029 +GARD:0012551,Orphanet,238722,ORPHA:238722,4,DNAL4,"[PIG27, dJ327J16]",dynein axonemal light chain 4,gene with protein product,22q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25098561],610565,ENSG00000100246,,O96015,O96015,HGNC:2955 +GARD:0012551,Orphanet,238722,ORPHA:238722,4,DCC,"[IGDCC1, NTN1R1, immunoglobulin superfamily, DCC subclass, member 1]",DCC netrin 1 receptor,gene with protein product,18q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20431009],120470,ENSG00000187323,,P43146,P43146,HGNC:2701 +GARD:0012551,Orphanet,238722,ORPHA:238722,4,RAD51,"[BRCA1/BRCA2-containing complex, subunit 5, BRCC5, FANCR, HsRad51, HsT16930]",RAD51 recombinase,gene with protein product,15q15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22305526],179617,ENSG00000051180,,Q06609,Q06609,HGNC:9817 +GARD:0012558,Orphanet+OMIM,612621,OMIM:612621,1,SYNGAP1,"[KIAA1938, RASA5, SYNGAP]",synaptic Ras GTPase activating protein 1,gene with protein product,6p21.32,The molecular basis of the disorder is known,Unknown,,603384,ENSG00000197283,,Q96PV0,Q96PV0,HGNC:11497 +GARD:0012559,Orphanet,93473,ORPHA:93473,1,IDUA,"[MPS1, MPSI, mucopolysaccharidosis type I]",alpha-L-iduronidase,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:8680403],252800,ENSG00000127415,,P35475,P35475,HGNC:5391 +GARD:0012560,Orphanet,93476,ORPHA:93476,1,IDUA,"[MPS1, MPSI, mucopolysaccharidosis type I]",alpha-L-iduronidase,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:8680403],252800,ENSG00000127415,,P35475,P35475,HGNC:5391 +GARD:0012561,Orphanet,93474,ORPHA:93474,1,IDUA,"[MPS1, MPSI, mucopolysaccharidosis type I]",alpha-L-iduronidase,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:8680403],252800,ENSG00000127415,,P35475,P35475,HGNC:5391 +GARD:0012568,Orphanet,199351,ORPHA:199351,1,PLA2G6,"[NBIA2, Neurodegeneration with brain iron accumulation 2, PARK14, PNPLA9, iPLA2, iPLA2beta, neurodegeneration with brain iron accumulation 2]",phospholipase A2 group VI,gene with protein product,22q13.1,Disease-causing germline mutation(s) in,Assessed,,603604,ENSG00000184381,1431,O60733,O60733,HGNC:9039 +GARD:0012569,Orphanet,289560,ORPHA:289560,1,C19ORF12,"[DKFZP762D096, MGC10922, MPAN, NBIA4, membrane protein-associated neurodegeneration, neurodegeneration with brain iron accumulation 4]",chromosome 19 open reading frame 12,gene with protein product,19q12,Disease-causing germline mutation(s) in,Assessed,[PMID:21981780],614297,ENSG00000131943,,Q9NSK7,,HGNC:25443 +GARD:0012570,Orphanet,329284,ORPHA:329284,1,WDR45,"[JM5, NBIA5, WIPI4, neurodegeneration with brain iron accumulation 5]",WD repeat domain 45,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:23435086],300526,ENSG00000196998,,Q9Y484,Q9Y484,HGNC:28912 +GARD:0012571,Orphanet,397725,ORPHA:397725,1,COASY,"[CoASY, DPCK, NBP, PPAT, bifunctional Coenzyme A synthase]",Coenzyme A synthase,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24360804],609855,ENSG00000068120,,Q13057,Q13057,HGNC:29932 +GARD:0012585,Orphanet,157973,ORPHA:157973,1,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:18551513],150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0012587,Orphanet,34520,ORPHA:34520,1,ITGA7,,integrin subunit alpha 7,gene with protein product,12q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:9590299],600536,ENSG00000135424,2446,Q13683,Q13683,HGNC:6143 +GARD:0012590,Orphanet,45358,ORPHA:45358,4,TUBB2B,"[DKFZp566F223, MGC8685, bA506K6.1, class IIb beta-tubulin]",tubulin beta 2B class IIb,gene with protein product,6p25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23001566],612850,ENSG00000137285,,Q9BVA1,Q9BVA1,HGNC:30829 +GARD:0012590,Orphanet,45358,ORPHA:45358,4,PHOX2A,"[CFEOM2, PMX2A]",paired like homeobox 2A,gene with protein product,11q13.4,Disease-causing germline mutation(s) in,Assessed,[PMID:20301522],602753,ENSG00000165462,,O14813,,HGNC:691 +GARD:0012590,Orphanet,45358,ORPHA:45358,4,KIF21A,[FLJ20052],kinesin family member 21A,gene with protein product,12q12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301522],608283,ENSG00000139116,,Q7Z4S6,Q7Z4S6,HGNC:19349 +GARD:0012590,Orphanet,45358,ORPHA:45358,4,TUBB3,"[CFEOM3, CFEOM3A, beta-4, class III beta-tubulin]",tubulin beta 3 class III,gene with protein product,16q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301522],602661,ENSG00000258947,2752,Q13509,Q13509,HGNC:20772 +GARD:0012591,Orphanet,178464,ORPHA:178464,1,TTN,"[CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD]",titin,gene with protein product,2q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24575448],188840,ENSG00000155657,2265,Q8WZ42,Q8WZ42,HGNC:12403 +GARD:0012592,Orphanet,98897,ORPHA:98897,2,NOTCH2NLC,,notch 2 N-terminal like C,gene with protein product,1q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:33693509],618025,ENSG00000286219,,P0DPK4,,HGNC:53924 +GARD:0012592,Orphanet,98897,ORPHA:98897,2,GIPC1,"[GIPC, GLUT1CBP, Hs.6454, NIP, SEMCAP, SYNECTIN, TIP-2]",GIPC PDZ domain containing family member 1,gene with protein product,19p13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:33374016],605072,ENSG00000123159,,O14908,,HGNC:1226 +GARD:0012598,Orphanet,79084,ORPHA:79084,1,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Candidate gene tested in,Not yet assessed,"[PMID:15298354, PMID:18041775]",150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0012599,Orphanet,79085,ORPHA:79085,1,AKT2,[PKBß],AKT serine/threonine kinase 2,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:16409151, PMID:21865368]",164731,ENSG00000105221,1480,P31751,P31751,HGNC:392 +GARD:0012600,Orphanet,79083,ORPHA:79083,1,PPARG,"[NR1C3, PPARG1, PPARG2, PPARgamma]",peroxisome proliferator activated receptor gamma,gene with protein product,3p25.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:11788685, PMID:12453919]",601487,ENSG00000132170,595,P37231,P37231,HGNC:9236 +GARD:0012601,Orphanet,280356,ORPHA:280356,1,PLIN1,,perilipin 1,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21345103],170290,ENSG00000166819,,O60240,O60240,HGNC:9076 +GARD:0012610,Orphanet,157965,ORPHA:157965,1,SLC39A13,[FLJ25785],solute carrier family 39 member 13,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18513683],608735,ENSG00000165915,1192,Q96H72,,HGNC:20859 +GARD:0012613,Orphanet,230851,ORPHA:230851,1,COL1A2,"[alpha 2(I)-collagen, alpha-2 collagen type I, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain, type I procollagen]",collagen type I alpha 2 chain,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15077201, PMID:16816023]",120160,ENSG00000164692,,P08123,P08123,HGNC:2198 +GARD:0012621,Orphanet,369955,ORPHA:369955,1,ABCD4,"[EST352188, P70R, PMP69]",ATP binding cassette subfamily D member 4,gene with protein product,14q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22922874],603214,ENSG00000119688,,O14678,O14678,HGNC:68 +GARD:0012631,Orphanet,140917,ORPHA:140917,1,NOG,,noggin,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,[PMID:12089654],602991,ENSG00000183691,,Q13253,Q13253,HGNC:7866 +GARD:0012635,Orphanet,2377,ORPHA:2377,1,PNPLA6,"[NTE, SPG39, SWS, iPLA2delta, neuropathy target esterase, sws]",patatin like phospholipase domain containing 6,gene with protein product,19p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25480986],603197,ENSG00000032444,,Q8IY17,Q8IY17,HGNC:16268 +GARD:0012638,Orphanet,183713,ORPHA:183713,1,MYD88,,MYD88 innate immune signal transduction adaptor,gene with protein product,3p22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18669862],602170,ENSG00000172936,,Q99836,Q99836,HGNC:7562 +GARD:0012640,Orphanet,306542,ORPHA:306542,1,ALX1,,ALX homeobox 1,gene with protein product,12q21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20451171],601527,ENSG00000180318,,Q15699,Q15699,HGNC:1494 +GARD:0012641,Orphanet,228390,ORPHA:228390,1,ALX4,"[FPP, KIAA1788, PFM]",ALX homeobox 4,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23401352],605420,ENSG00000052850,,Q9H161,,HGNC:450 +GARD:0012642,Orphanet,391474,ORPHA:391474,1,ALX3,,ALX homeobox 3,gene with protein product,1p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19409524],606014,ENSG00000156150,,O95076,,HGNC:449 +GARD:0012644,Orphanet,137783,ORPHA:137783,2,MYBPC1,"[slow skeletal-type muscle myosin-binding-protein C, ssMyBP-C]",myosin binding protein C1,gene with protein product,12q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22610851],160794,ENSG00000196091,,Q00872,Q00872,HGNC:7549 +GARD:0012644,Orphanet,137783,ORPHA:137783,2,PIP5K1C,"[KIAA0589, LCCS3, PIP5Kgamma]",phosphatidylinositol-4-phosphate 5-kinase type 1 gamma,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17701898],606102,ENSG00000186111,2165,O60331,O60331,HGNC:8996 +GARD:0012645,Orphanet+OMIM,614915,OMIM:614915,1,MYBPC1,"[slow skeletal-type muscle myosin-binding-protein C, ssMyBP-C]",myosin binding protein C1,gene with protein product,12q23.2,The molecular basis of the disorder is known,Unknown,,160794,ENSG00000196091,,Q00872,Q00872,HGNC:7549 +GARD:0012648,Orphanet,91489,ORPHA:91489,1,CHRDL1,"[CHL, NRLN1]",chordin like 1,gene with protein product,Xq23,Disease-causing germline mutation(s) in,Assessed,[PMID:22284829],300350,ENSG00000101938,,Q9BU40,Q9BU40,HGNC:29861 +GARD:0012652,Orphanet,137898,ORPHA:137898,1,DARS2,"['aspartate tRNA ligase 2, mitochondrial', Aspartate tRNA ligase 2, mitochondrial, FLJ10514, mtAspRS]","aspartyl-tRNA synthetase 2, mitochondrial",gene with protein product,1q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17384640],610956,ENSG00000117593,,Q6PI48,Q6PI48,HGNC:25538 +GARD:0012653,Orphanet,447737,ORPHA:447737,1,DOCK2,[KIAA0209],dedicator of cytokinesis 2,gene with protein product,5q35.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26083206],603122,ENSG00000134516,,Q92608,Q92608,HGNC:2988 +GARD:0012664,Orphanet,95699,ORPHA:95699,1,POR,"[CYPOR, FLJ26468, NADPH--hemoprotein reductase]",cytochrome p450 oxidoreductase,gene with protein product,7q11.23,Disease-causing germline mutation(s) in,Assessed,,124015,ENSG00000127948,,P16435,P16435,HGNC:9208 +GARD:0012669,Orphanet,163937,ORPHA:163937,1,CASK,"[CAGH39, FGS4, LIN2]",calcium/calmodulin dependent serine protein kinase,gene with protein product,Xp11.4,Disease-causing germline mutation(s) in,Assessed,,300172,ENSG00000147044,1959,O14936,O14936,HGNC:1497 +GARD:0012678,Orphanet,401859,ORPHA:401859,1,LIAS,"[LAS, Lipoyl synthase, mitochondrial]",lipoic acid synthetase,gene with protein product,4p14,Disease-causing germline mutation(s) in,Assessed,"[PMID:24334290, PMID:24777537]",607031,ENSG00000121897,,O43766,O43766,HGNC:16429 +GARD:0012680,Orphanet,401862,ORPHA:401862,1,LIPT1,"[MGC12290, MGC13378]",lipoyltransferase 1,gene with protein product,2q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24777537],610284,ENSG00000144182,,Q9Y234,Q9Y234,HGNC:29569 +GARD:0012681,Orphanet,401866,ORPHA:401866,1,GLRX5,"[GRX5, PR01238]",glutaredoxin 5,gene with protein product,14q32.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:24334290, PMID:24777537]",609588,ENSG00000182512,,Q86SX6,Q86SX6,HGNC:20134 +GARD:0012682,Orphanet,2744,ORPHA:2744,2,DCC,"[IGDCC1, NTN1R1, immunoglobulin superfamily, DCC subclass, member 1]",DCC netrin 1 receptor,gene with protein product,18q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28250456],120470,ENSG00000187323,,P43146,P43146,HGNC:2701 +GARD:0012682,Orphanet,2744,ORPHA:2744,2,ROBO3,"[FLJ21044, HGPS, RBIG1]",roundabout guidance receptor 3,gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,,608630,ENSG00000154134,,Q96MS0,Q96MS0,HGNC:13433 +GARD:0012687,Orphanet,79455,ORPHA:79455,1,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:18795925, PMID:19865100]",164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0012715,Orphanet,457260,ORPHA:457260,1,DDX3X,"[CAP-Rf, DBX, DDX14, HLP2, Helicase-like protein 2]",DEAD-box helicase 3 X-linked,gene with protein product,Xp11.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26235985],300160,ENSG00000215301,,O00571,O00571,HGNC:2745 +GARD:0012718,Orphanet,169186,ORPHA:169186,4,SPEG,"[BPEG, KIAA1297, MGC12676, MYLK6, SPEGalpha, SPEGbeta, striated muscle preferentially expressed protein kinase]",striated muscle enriched protein kinase,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:25087613],615950,ENSG00000072195,2203,Q15772,Q15772,HGNC:16901 +GARD:0012718,Orphanet,169186,ORPHA:169186,4,TTN,"[CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD]",titin,gene with protein product,2q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23975875],188840,ENSG00000155657,2265,Q8WZ42,Q8WZ42,HGNC:12403 +GARD:0012718,Orphanet,169186,ORPHA:169186,4,BIN1,"[AMPH2, SH3P9, amphiphysin II]",bridging integrator 1,gene with protein product,2q14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17676042],601248,ENSG00000136717,,O00499,O00499,HGNC:1052 +GARD:0012718,Orphanet,169186,ORPHA:169186,4,RYR1,"[PPP1R137, RYR, protein phosphatase 1, regulatory subunit 137]",ryanodine receptor 1,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20839240],180901,ENSG00000196218,747,P21817,P21817,HGNC:10483 +GARD:0012719,Orphanet,169189,ORPHA:169189,5,DNM2,"[CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, cytoskeletal protein, dynamin II]",dynamin 2,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:16227997],602378,ENSG00000079805,,P50570,P50570,HGNC:2974 +GARD:0012719,Orphanet,169189,ORPHA:169189,5,BIN1,"[AMPH2, SH3P9, amphiphysin II]",bridging integrator 1,gene with protein product,2q14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25260562],601248,ENSG00000136717,,O00499,O00499,HGNC:1052 +GARD:0012719,Orphanet,169189,ORPHA:169189,5,MTMR14,"[FLJ22405, FLJ90311, egg-derived tyrosine phosphatase homolog (Drosophila), hEDTP, hJumpy]",myotubularin related protein 14,gene with protein product,3p25.3,Candidate gene tested in,Not yet assessed,[PMID:17008356],611089,ENSG00000163719,,Q8NCE2,Q8NCE2,HGNC:26190 +GARD:0012719,Orphanet,169189,ORPHA:169189,5,RYR1,"[PPP1R137, RYR, protein phosphatase 1, regulatory subunit 137]",ryanodine receptor 1,gene with protein product,19q13.2,Candidate gene tested in,Not yet assessed,,180901,ENSG00000196218,747,P21817,P21817,HGNC:10483 +GARD:0012719,Orphanet,169189,ORPHA:169189,5,MYF6,"[MRF4, bHLHc4, herculin, muscle-specific regulatory factor 4]",myogenic factor 6,gene with protein product,12q21.31,Candidate gene tested in,Not yet assessed,,159991,ENSG00000111046,,P23409,P23409,HGNC:7566 +GARD:0012722,Orphanet,324588,ORPHA:324588,1,ADCY5,[AC5],adenylate cyclase 5,gene with protein product,3q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22782511],600293,ENSG00000173175,1282,O95622,O95622,HGNC:236 +GARD:0012724,Orphanet,98892,ORPHA:98892,7,MAP1B,"[MAP5, PPP1R102, protein phosphatase 1, regulatory subunit 102]",microtubule associated protein 1B,gene with protein product,5q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29738522],157129,ENSG00000131711,,P46821,P46821,HGNC:6836 +GARD:0012724,Orphanet,98892,ORPHA:98892,7,TMTC3,"[FLJ90492, SMILE]",transmembrane O-mannosyltransferase targeting cadherins 3,gene with protein product,12q21.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28973161],617218,ENSG00000139324,,Q6ZXV5,Q6ZXV5,HGNC:26899 +GARD:0012724,Orphanet,98892,ORPHA:98892,7,ARF1,,ADP ribosylation factor 1,gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,[PMID:28868155],103180,ENSG00000143761,,P84077,P84077,HGNC:652 +GARD:0012724,Orphanet,98892,ORPHA:98892,7,ARFGEF2,"[BIG2, Brefeldin A-inhibited guanine nucleotide-exchange protein 2]",ADP ribosylation factor guanine nucleotide exchange factor 2,gene with protein product,20q13.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:14647276, PMID:25160555]",605371,ENSG00000124198,,Q9Y6D5,Q9Y6D5,HGNC:15853 +GARD:0012724,Orphanet,98892,ORPHA:98892,7,ERMARD,"[FLJ11152, dJ266L20.3]",ER membrane associated RNA degradation,gene with protein product,6q27,Disease-causing germline mutation(s) in,Assessed,[PMID:24056535],615532,ENSG00000130023,,Q5T6L9,,HGNC:21056 +GARD:0012724,Orphanet,98892,ORPHA:98892,7,FLNA,"[ABP-280, actin binding protein 280, alpha filamin]",filamin A,gene with protein product,Xq28,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301392],300017,ENSG00000196924,,P21333,P21333,HGNC:3754 +GARD:0012724,Orphanet,98892,ORPHA:98892,7,NEDD4L,"[KIAA0439, NEDD4-2, RSP5]",NEDD4 like E3 ubiquitin protein ligase,gene with protein product,18q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:27694961],606384,ENSG00000049759,,Q96PU5,Q96PU5,HGNC:7728 +GARD:0012731,Orphanet,139583,ORPHA:139583,1,AIFM1,"[AIF, CMTX4, DFNX5]",apoptosis inducing factor mitochondria associated 1,gene with protein product,Xq26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25986071],300169,ENSG00000156709,,O95831,O95831,HGNC:8768 +GARD:0012732,Orphanet,391397,ORPHA:391397,1,SCN11A,"[NaN, Nav1.9, SNS-2]",sodium voltage-gated channel alpha subunit 11,gene with protein product,3p22.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24036948],604385,ENSG00000168356,586,Q9UI33,Q9UI33,HGNC:10583 +GARD:0012749,Orphanet,171622,ORPHA:171622,1,SPG32,[SPG29],spastic paraplegia 32 (autosomal recessive),Disorder-associated locus,14q12-q21,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:32314 +GARD:0012759,Orphanet,402020,ORPHA:402020,2,MECOM,"[KMT8E, MDS1-EVI1, PR domain 3, PRDM3]",MDS1 and EVI1 complex locus,gene with protein product,3q26.2,Part of a fusion gene in,Assessed,"[PMID:19357394, PMID:20556821]",165215,ENSG00000085276,,Q03112,Q03112,HGNC:3498 +GARD:0012759,Orphanet,402020,ORPHA:402020,2,RPN1,"[OST1, oligosaccharyltransferase 1 homolog (S. cerevisiae), oligosaccharyltransferase complex subunit (non-catalytic)]",ribophorin I,gene with protein product,3q21.3,Part of a fusion gene in,Assessed,"[PMID:19357394, PMID:20556821]",180470,ENSG00000163902,,P04843,P04843,HGNC:10381 +GARD:0012761,Orphanet,86845,ORPHA:86845,1,TET2,"[FLJ20032, ten-eleven translocation 2]",tet methylcytosine dioxygenase 2,gene with protein product,4q24,Disease-causing somatic mutation(s) in,Not yet assessed,[PMID:19557078],612839,ENSG00000168769,,Q6N021,Q6N021,HGNC:25941 +GARD:0012765,Orphanet,420611,ORPHA:420611,1,GATA1,"[ERYF1, GATA-1, NF-E1, NFE1, nuclear factor, erythroid 1]",GATA binding protein 1,gene with protein product,Xp11.23,Disease-causing somatic mutation(s) in,Assessed,[PMID:14636651],305371,ENSG00000102145,,P15976,P15976,HGNC:4170 +GARD:0012766,Orphanet,217377,ORPHA:217377,1,IQSEC2,"[BRAG1, IQ-ArfGEF, KIAA0522, brefeldin A resistant Arf-guanine nucleotide exchange factor 1]",IQ motif and Sec7 domain ArfGEF 2,gene with protein product,Xp11.22,Role in the phenotype of,Assessed,[PMID:26059843],300522,ENSG00000124313,,Q5JU85,,HGNC:29059 +GARD:0012777,Orphanet,300496,ORPHA:300496,1,PIGA,"[GPI3, paroxysmal nocturnal hemoglobinuria, phosphatidylinositol N-acetylglucosaminyltransferase]",phosphatidylinositol glycan anchor biosynthesis class A,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,,311770,ENSG00000165195,,P37287,P37287,HGNC:8957 +GARD:0012779,Orphanet,284247,ORPHA:284247,1,IGFBP7,"[FSTL2, IGFBP-7, MAC25, PSF]",insulin like growth factor binding protein 7,gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,[PMID:21835307],602867,ENSG00000163453,,Q16270,Q16270,HGNC:5476 +GARD:0012781,Orphanet,280633,ORPHA:280633,1,PIGN,"[MCD4, MDC4, PIG-N]",phosphatidylinositol glycan anchor biosynthesis class N,gene with protein product,18q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21493957],606097,ENSG00000197563,,O95427,O95427,HGNC:8967 +GARD:0012794,Orphanet,89842,ORPHA:89842,1,COL7A1,"[LC collagen, collagen VII, alpha-1 polypeptide]",collagen type VII alpha 1 chain,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,,120120,ENSG00000114270,,Q02388,Q02388,HGNC:2214 +GARD:0012796,Orphanet,166260,ORPHA:166260,1,DSPP,[DMP3],dentin sialophosphoprotein,gene with protein product,4q22.1,Disease-causing germline mutation(s) in,Assessed,,125485,ENSG00000152591,,Q9NZW4,Q9NZW4,HGNC:3054 +GARD:0012798,Orphanet,1020,ORPHA:1020,7,APP,"[alpha-sAPP, peptidase nexin-II]",amyloid beta precursor protein,gene with protein product,21q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301414],104760,ENSG00000142192,,P05067,P05067,HGNC:620 +GARD:0012798,Orphanet,1020,ORPHA:1020,7,PSEN2,"[AD3L, PS2, STM2]",presenilin 2,gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301414],600759,ENSG00000143801,2403,P49810,P49810,HGNC:9509 +GARD:0012798,Orphanet,1020,ORPHA:1020,7,PSEN1,"[FAD, PS1, S182]",presenilin 1,gene with protein product,14q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301414],104311,ENSG00000080815,2402,P49768,P49768,HGNC:9508 +GARD:0012798,Orphanet,1020,ORPHA:1020,7,TREM2,"[TREM-2, Trem2a, Trem2b, Trem2c]",triggering receptor expressed on myeloid cells 2,gene with protein product,6p21.1,Candidate gene tested in,Not yet assessed,[PMID:23380991],605086,ENSG00000095970,,Q9NZC2,Q9NZC2,HGNC:17761 +GARD:0012798,Orphanet,1020,ORPHA:1020,7,TOMM40,"[C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40]",translocase of outer mitochondrial membrane 40,gene with protein product,19q13.32,Biomarker tested in,Not yet assessed,"[PMID:23234877, PMID:25201778]",608061,ENSG00000130204,,O96008,O96008,HGNC:18001 +GARD:0012798,Orphanet,1020,ORPHA:1020,7,ABCA7,[ABCX],ATP binding cassette subfamily A member 7,gene with protein product,19p13.3,Candidate gene tested in,Not yet assessed,[PMID:27037229],605414,ENSG00000064687,762,Q8IZY2,Q8IZY2,HGNC:37 +GARD:0012798,Orphanet,1020,ORPHA:1020,7,SORL1,"[LDLR relative with 11 ligand-binding repeats, LR11, LRP9, SorLA, SorLA-1, gp250]",sortilin related receptor 1,gene with protein product,11q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22472873],602005,ENSG00000137642,,Q92673,Q92673,HGNC:11185 +GARD:0012799,Orphanet+OMIM,104310,OMIM:104310,1,APOE,,apolipoprotein E,gene with protein product,19q13.32,The molecular basis of the disorder is known,Unknown,,107741,ENSG00000130203,,P02649,P02649,HGNC:613 +GARD:0012801,Orphanet,2969,ORPHA:2969,1,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:10749983, PMID:20301661]",601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0012806,Orphanet,1797,ORPHA:1797,1,TBX6,,T-box transcription factor 6,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23335591],602427,ENSG00000149922,,O95947,O95947,HGNC:11605 +GARD:0012807,Orphanet+OMIM,616566,OMIM:616566,1,RIPPLY2,[dJ237I15.1],ripply transcriptional repressor 2,gene with protein product,6q14.2,The molecular basis of the disorder is known,Unknown,,609891,ENSG00000203877,,Q5TAB7,,HGNC:21390 +GARD:0012811,Orphanet,404463,ORPHA:404463,1,ACTA2,[ACTSA],"actin alpha 2, smooth muscle",gene with protein product,10q23.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20734336],102620,ENSG00000107796,,P62736,P62736,HGNC:130 +GARD:0012814,Orphanet,508488,ORPHA:508488,1,PUF60,"[FBP interacting repressor, FIR, Ro ribonucleoprotein binding protein 1, RoBPI, SIAHBP1, pyrimidine tract binding splicing factor, siah binding protein 1]",poly(U) binding splicing factor 60,gene with protein product,8q24.3,Role in the phenotype of,Assessed,[PMID:27804958],604819,ENSG00000179950,,Q9UHX1,Q9UHX1,HGNC:17042 +GARD:0012815,Orphanet,363686,ORPHA:363686,1,GATAD2B,"[P66beta, Transcription repressor p66 beta component of the MeCP1 complex, transcription repressor p66 beta component of the MeCP1 complex]",GATA zinc finger domain containing 2B,gene with protein product,1q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23644463],614998,ENSG00000143614,,Q8WXI9,Q8WXI9,HGNC:30778 +GARD:0012819,Orphanet,247353,ORPHA:247353,2,IL36RN,"[FIL1, FIL1(DELTA), FIL1D, IL-1 related protein 3, IL-1F5, IL1HY1, IL1L1, IL1RP3, IL36RA, MGC29840, family of interleukin 1-delta, interleukin-1 HY1, interleukin-1 receptor antagonist homolog 1]",interleukin 36 receptor antagonist,gene with protein product,2q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21839423],605507,ENSG00000136695,,Q9UBH0,Q9UBH0,HGNC:15561 +GARD:0012819,Orphanet,247353,ORPHA:247353,2,AP1S3,[sigma1C],adaptor related protein complex 1 subunit sigma 3,gene with protein product,2q36.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24791904],615781,ENSG00000152056,,Q96PC3,Q96PC3,HGNC:18971 +GARD:0012820,Orphanet,163927,ORPHA:163927,2,IL36RN,"[FIL1, FIL1(DELTA), FIL1D, IL-1 related protein 3, IL-1F5, IL1HY1, IL1L1, IL1RP3, IL36RA, MGC29840, family of interleukin 1-delta, interleukin-1 HY1, interleukin-1 receptor antagonist homolog 1]",interleukin 36 receptor antagonist,gene with protein product,2q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23303454],605507,ENSG00000136695,,Q9UBH0,Q9UBH0,HGNC:15561 +GARD:0012820,Orphanet,163927,ORPHA:163927,2,AP1S3,[sigma1C],adaptor related protein complex 1 subunit sigma 3,gene with protein product,2q36.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24791904],615781,ENSG00000152056,,Q96PC3,Q96PC3,HGNC:18971 +GARD:0012821,Orphanet,171430,ORPHA:171430,5,KLHL41,"[Krp1, SARCOSIN, sarcomeric muscle protein]",kelch like family member 41,gene with protein product,2q31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24268659],607701,ENSG00000239474,,O60662,O60662,HGNC:16905 +GARD:0012821,Orphanet,171430,ORPHA:171430,5,NEB,"[NEB177D, nemaline myopathy type 2]",nebulin,gene with protein product,2q23.3,Disease-causing germline mutation(s) in,Assessed,,161650,ENSG00000183091,,P20929,P20929,HGNC:7720 +GARD:0012821,Orphanet,171430,ORPHA:171430,5,ACTA1,"[NEM3, nemaline myopathy type 3]","actin alpha 1, skeletal muscle",gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,,102610,ENSG00000143632,,P68133,P68133,HGNC:129 +GARD:0012821,Orphanet,171430,ORPHA:171430,5,KLHL40,"[NEM8, SRYP, Sarcosynapsin, nemaline myopathy type 8, sarcosynapsin]",kelch like family member 40,gene with protein product,3p22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23746549],615340,ENSG00000157119,,Q2TBA0,,HGNC:30372 +GARD:0012821,Orphanet,171430,ORPHA:171430,5,LMOD3,,leiomodin 3,gene with protein product,3p14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25250574],616112,ENSG00000163380,,Q0VAK6,,HGNC:6649 +GARD:0012822,Orphanet,171436,ORPHA:171436,6,KLHL41,"[Krp1, SARCOSIN, sarcomeric muscle protein]",kelch like family member 41,gene with protein product,2q31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24268659],607701,ENSG00000239474,,O60662,O60662,HGNC:16905 +GARD:0012822,Orphanet,171436,ORPHA:171436,6,CFL2,"[NEM7, nemaline myopathy type 7]",cofilin 2,gene with protein product,14q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17160903],601443,ENSG00000165410,,Q9Y281,Q9Y281,HGNC:1875 +GARD:0012822,Orphanet,171436,ORPHA:171436,6,TPM2,"[DA1, NEM4, nemaline myopathy type 4]",tropomyosin 2,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,,190990,ENSG00000198467,,P07951,P07951,HGNC:12011 +GARD:0012822,Orphanet,171436,ORPHA:171436,6,NEB,"[NEB177D, nemaline myopathy type 2]",nebulin,gene with protein product,2q23.3,Disease-causing germline mutation(s) in,Assessed,,161650,ENSG00000183091,,P20929,P20929,HGNC:7720 +GARD:0012822,Orphanet,171436,ORPHA:171436,6,ACTA1,"[NEM3, nemaline myopathy type 3]","actin alpha 1, skeletal muscle",gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,,102610,ENSG00000143632,,P68133,P68133,HGNC:129 +GARD:0012822,Orphanet,171436,ORPHA:171436,6,LMOD3,,leiomodin 3,gene with protein product,3p14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25250574],616112,ENSG00000163380,,Q0VAK6,,HGNC:6649 +GARD:0012823,Orphanet,171433,ORPHA:171433,4,TPM3,[TRK],tropomyosin 3,gene with protein product,1q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18382475],191030,ENSG00000143549,,P06753,P06753,HGNC:12012 +GARD:0012823,Orphanet,171433,ORPHA:171433,4,KLHL41,"[Krp1, SARCOSIN, sarcomeric muscle protein]",kelch like family member 41,gene with protein product,2q31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24268659],607701,ENSG00000239474,,O60662,O60662,HGNC:16905 +GARD:0012823,Orphanet,171433,ORPHA:171433,4,NEB,"[NEB177D, nemaline myopathy type 2]",nebulin,gene with protein product,2q23.3,Disease-causing germline mutation(s) in,Assessed,,161650,ENSG00000183091,,P20929,P20929,HGNC:7720 +GARD:0012823,Orphanet,171433,ORPHA:171433,4,ACTA1,"[NEM3, nemaline myopathy type 3]","actin alpha 1, skeletal muscle",gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,,102610,ENSG00000143632,,P68133,P68133,HGNC:129 +GARD:0012827,Orphanet,69735,ORPHA:69735,1,SOX18,,SRY-box transcription factor 18,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:24697860],601618,ENSG00000203883,,P35713,,HGNC:11194 +GARD:0012832,Orphanet+OMIM,613426,OMIM:613426,1,MYH7,[CMD1S],myosin heavy chain 7,gene with protein product,14q11.2,The molecular basis of the disorder is known,Unknown,,160760,ENSG00000092054,,P12883,,HGNC:7577 +GARD:0012844,Orphanet,363396,ORPHA:363396,1,SLITRK6,[FLJ22774],SLIT and NTRK like family member 6,gene with protein product,13q31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23543054],609681,ENSG00000184564,,Q9H5Y7,Q9H5Y7,HGNC:23503 +GARD:0012845,Orphanet,444077,ORPHA:444077,1,AFF4,"[AF5Q31, ALL1 fused gene from 5q31, MCEF]",AF4/FMR2 family member 4,gene with protein product,5q31.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25730767],604417,ENSG00000072364,,Q9UHB7,Q9UHB7,HGNC:17869 +GARD:0012851,Orphanet+OMIM,613970,OMIM:613970,1,GRIN2B,[GluN2B],glutamate ionotropic receptor NMDA type subunit 2B,gene with protein product,12p13.1,The molecular basis of the disorder is known,Unknown,,138252,ENSG00000273079,objectId:457,Q13224,Q13224,HGNC:4586 +GARD:0012854,Orphanet,46348,ORPHA:46348,3,SCN11A,"[NaN, Nav1.9, SNS-2]",sodium voltage-gated channel alpha subunit 11,gene with protein product,3p22.2,Candidate gene tested in,Not yet assessed,,604385,ENSG00000168356,586,Q9UI33,Q9UI33,HGNC:10583 +GARD:0012854,Orphanet,46348,ORPHA:46348,3,SCN9A,"[ETHA, NE-NA, NENA, Nav1.7, PN1]",sodium voltage-gated channel alpha subunit 9,gene with protein product,2q24.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:17145499],603415,ENSG00000169432,584,Q15858,Q15858,HGNC:10597 +GARD:0012854,Orphanet,46348,ORPHA:46348,3,SCN10A,"[Nav1.8, PN3, SNS, hPN3, peripheral nerve sodium channel 3, sensory neuron sodium channel]",sodium voltage-gated channel alpha subunit 10,gene with protein product,3p22.2,Candidate gene tested in,Not yet assessed,,604427,ENSG00000185313,585,Q9Y5Y9,Q9Y5Y9,HGNC:10582 +GARD:0012860,Orphanet,64753,ORPHA:64753,2,SETX,"[AOA2, KIAA0625, Sen1]",senataxin,gene with protein product,9q34.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:14770181, PMID:20301333]",608465,ENSG00000107290,,Q7Z333,Q7Z333,HGNC:445 +GARD:0012860,Orphanet,64753,ORPHA:64753,2,PIK3R5,"[P101-PI3K, p101]",phosphoinositide-3-kinase regulatory subunit 5,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22065524],611317,ENSG00000141506,2506,Q8WYR1,Q8WYR1,HGNC:30035 +GARD:0012861,Orphanet,572550,ORPHA:572550,1,SLC52A3,"[Hypothetical protein LOC113278, RFVT3, bA371L19.1, hRFT2, hypothetical protein LOC113278]",solute carrier family 52 member 3,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:26973221, PMID:30793323]",613350,ENSG00000101276,2573,Q9NQ40,Q9NQ40,HGNC:16187 +GARD:0012863,Orphanet,263534,ORPHA:263534,2,TGM5,"[TGMX, TGX, protein-glutamine gamma-glutamyltransferase 5]",transglutaminase 5,gene with protein product,15q15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:9767297],603805,ENSG00000104055,,O43548,O43548,HGNC:11781 +GARD:0012863,Orphanet,263534,ORPHA:263534,2,CSTA,[stefin A],cystatin A,gene with protein product,3q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26684698],184600,ENSG00000121552,,P01040,P01040,HGNC:2481 +GARD:0012864,Orphanet,140905,ORPHA:140905,1,LIPC,"[HL, HTGL, Triacylglycerol lipase]","lipase C, hepatic type",gene with protein product,15q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:1301939],151670,ENSG00000166035,,P11150,P11150,HGNC:6619 +GARD:0012867,Orphanet,96253,ORPHA:96253,2,USP8,"[HumORF8, KIAA0055, SPG59, UBPY]",ubiquitin specific peptidase 8,gene with protein product,15q21.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:25485838],603158,ENSG00000138592,,P40818,P40818,HGNC:12631 +GARD:0012867,Orphanet,96253,ORPHA:96253,2,CDH23,"[CDHR23, cadherin-related family member 23]",cadherin related 23,gene with protein product,10q22.1,Major susceptibility factor in,Assessed,[PMID:28413019],605516,ENSG00000107736,,Q9H251,,HGNC:13733 +GARD:0012874,Orphanet+OMIM,613848,OMIM:613848,1,SERPINH1,"[HSP47, collagen binding protein 1, colligin, heat shock protein 47]",serpin family H member 1,gene with protein product,11q13.5,The molecular basis of the disorder is known,Unknown,,600943,ENSG00000149257,,P50454,P50454,HGNC:1546 +GARD:0012875,Orphanet+OMIM,610968,OMIM:610968,1,FKBP10,"[FKBP6, FKBP65, FLJ20683, FLJ22041, FLJ23833, hFKBP65]",FKBP prolyl isomerase 10,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,607063,ENSG00000141756,,Q96AY3,,HGNC:18169 +GARD:0012889,Orphanet,209908,ORPHA:209908,1,FOXP2,"[CAG repeat protein 44, CAGH44, forkhead/winged-helix transcription factor, speech and language disorder 1, trinucleotide repeat containing 10]",forkhead box P2,gene with protein product,7q31.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:11586359, PMID:15877281]",605317,ENSG00000128573,,O15409,O15409,HGNC:13875 +GARD:0012892,Orphanet,352563,ORPHA:352563,1,MRPL44,"[39S ribosomal protein L44, mitochondrial, FLJ12701, FLJ13990]",mitochondrial ribosomal protein L44,gene with protein product,2q36.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23315540],611849,ENSG00000135900,,Q9H9J2,Q9H9J2,HGNC:16650 +GARD:0012893,Orphanet,314051,ORPHA:314051,1,EARS2,"['glutamate tRNA ligase 2, mitochondrial', Glutamate tRNA ligase 2, mitochondrial, KIAA1970, MSE1, mtGlnRS]","glutamyl-tRNA synthetase 2, mitochondrial",gene with protein product,16p12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22492562, PMID:24501781]",612799,ENSG00000103356,,Q5JPH6,Q5JPH6,HGNC:29419 +GARD:0012900,Orphanet+OMIM,612164,OMIM:612164,1,STXBP1,"[MUNC18-1, UNC18, hUNC18, nSec1, rbSec1, syntaxin-binding protein 1]",syntaxin binding protein 1,gene with protein product,9q34.11,The molecular basis of the disorder is known,Unknown,,602926,ENSG00000136854,,P61764,P61764,HGNC:11444 +GARD:0012901,Orphanet+OMIM,615905,OMIM:615905,1,SLC13A5,"[INDY, NACT, Na(+)/citrate cotransporter, mINDY, mammalian INDY homolog (Drosophila)]",solute carrier family 13 member 5,gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,608305,ENSG00000141485,objectId:981,Q86YT5,Q86YT5,HGNC:23089 +GARD:0012903,Orphanet,401777,ORPHA:401777,1,NR2F1,"[COUP-TFI, COUPTF1, EAR-3, SVP44, TCFCOUP1]",nuclear receptor subfamily 2 group F member 1,gene with protein product,5q15,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24462372],132890,ENSG00000175745,617,P10589,P10589,HGNC:7975 +GARD:0012913,Orphanet,500533,ORPHA:500533,1,STRADA,"[LYK5, NY-BR-96, STE20-like pseudokinase, STRAD, Stlk]",STE20 related adaptor alpha,gene with protein product,17q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:27170158, PMID:28688840]",608626,ENSG00000266173,2227,Q7RTN6,Q7RTN6,HGNC:30172 +GARD:0012915,Orphanet,319612,ORPHA:319612,1,IKBKG,"[FIP-3, FIP3, Fip3p, IKK-gamma, NEMO, ZC2HC9]",inhibitor of nuclear factor kappa B kinase regulatory subunit gamma,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,,300248,ENSG00000269335,,Q9Y6K9,Q9Y6K9,HGNC:5961 +GARD:0012916,Orphanet,71275,ORPHA:71275,3,RHD,"[CD240D, DIIIc, Rh30a, Rh4, RhII, RhPI]",Rh blood group D antigen,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:9657769],111680,ENSG00000187010,,Q02161,,HGNC:10009 +GARD:0012916,Orphanet,71275,ORPHA:71275,3,RHAG,"[Ammonium transporter Rh type A, CD241, RH50A, SLC42A1]",Rh associated glycoprotein,gene with protein product,6p12.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:8563755, PMID:9716608]",180297,ENSG00000112077,1198,Q02094,Q02094,HGNC:10006 +GARD:0012916,Orphanet,71275,ORPHA:71275,3,RHCE,[CD240CE],Rh blood group CcEe antigens,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:9657766, PMID:9657769]",111700,ENSG00000188672,,P18577,,HGNC:10008 +GARD:0012919,Orphanet,293181,ORPHA:293181,9,SLC25A22,"[EIEE3, FLJ13044, GC1, NET44]",solute carrier family 25 member 22,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:24596948],609302,ENSG00000177542,1058,Q9H936,Q9H936,HGNC:19954 +GARD:0012919,Orphanet,293181,ORPHA:293181,9,TBC1D24,"[DFNA65, KIAA1171, TBC/LysM-associated domain containing 6, TLDC6, skywalker homolog (Drosophila)]",TBC1 domain family member 24,gene with protein product,16p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23526554],613577,ENSG00000162065,,Q9ULP9,Q9ULP9,HGNC:29203 +GARD:0012919,Orphanet,293181,ORPHA:293181,9,SCN1A,"[GEFSP2, HBSCI, NAC1, Nav1.1, SMEI]",sodium voltage-gated channel alpha subunit 1,gene with protein product,2q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301494, PMID:21555645]",182389,ENSG00000144285,578,P35498,P35498,HGNC:10585 +GARD:0012919,Orphanet,293181,ORPHA:293181,9,SLC12A5,"[KCC2, KIAA1176]",solute carrier family 12 member 5,gene with protein product,20q13.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26333769],606726,ENSG00000124140,972,Q9H2X9,Q9H2X9,HGNC:13818 +GARD:0012919,Orphanet,293181,ORPHA:293181,9,SCN2A,"[HBSCI, HBSCII, Nav1.2]",sodium voltage-gated channel alpha subunit 2,gene with protein product,2q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31618474],182390,ENSG00000136531,579,Q99250,Q99250,HGNC:10588 +GARD:0012919,Orphanet,293181,ORPHA:293181,9,KCNQ2,"[BFNC, ENB1, HNSPC, KCNA11, Kv7.2]",potassium voltage-gated channel subfamily Q member 2,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:31618474],602235,ENSG00000075043,561,O43526,O43526,HGNC:6296 +GARD:0012919,Orphanet,293181,ORPHA:293181,9,KCNT1,"[KCa4.1, KIAA1422, SLACK, Sequence like a calcium-activated K+ channel, Slo2.2]",potassium sodium-activated channel subfamily T member 1,gene with protein product,9q34.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23086397],608167,ENSG00000107147,385,Q5JUK3,,HGNC:18865 +GARD:0012919,Orphanet,293181,ORPHA:293181,9,PIGA,"[GPI3, paroxysmal nocturnal hemoglobinuria, phosphatidylinositol N-acetylglucosaminyltransferase]",phosphatidylinositol glycan anchor biosynthesis class A,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31618474],311770,ENSG00000165195,,P37287,P37287,HGNC:8957 +GARD:0012919,Orphanet,293181,ORPHA:293181,9,PLCB1,"[KIAA0581, PLC-I, PLC154, phosphoinositide phospholipase C]",phospholipase C beta 1,gene with protein product,20p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22690784],607120,ENSG00000182621,1403,Q9NQ66,Q9NQ66,HGNC:15917 +GARD:0012921,Orphanet,79406,ORPHA:79406,1,COL17A1,[BP180],collagen type XVII alpha 1 chain,gene with protein product,10q25.1,Disease-causing germline mutation(s) in,Assessed,,113811,ENSG00000065618,,Q9UMD9,Q9UMD9,HGNC:2194 +GARD:0012922,Orphanet,79402,ORPHA:79402,5,LAMB3,"[BM600-125kDa, kalinin-140kDa, nicein-125kDa]",laminin subunit beta 3,gene with protein product,1q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301304],150310,ENSG00000196878,,Q13751,Q13751,HGNC:6490 +GARD:0012922,Orphanet,79402,ORPHA:79402,5,LAMA3,"[BM600-150kDa, epiligrin, kalinin-165kDa, nicein-150kDa]",laminin subunit alpha 3,gene with protein product,18q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301304],600805,ENSG00000053747,,Q16787,Q16787,HGNC:6483 +GARD:0012922,Orphanet,79402,ORPHA:79402,5,ITGB4,[CD104],integrin subunit beta 4,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:10792571, PMID:16473856, PMID:20301304]",147557,ENSG00000132470,2458,P16144,P16144,HGNC:6158 +GARD:0012922,Orphanet,79402,ORPHA:79402,5,LAMC2,"[BM600-100kDa, kalinin-105kDa, nicein-100kDa]",laminin subunit gamma 2,gene with protein product,1q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301304],150292,ENSG00000058085,,Q13753,Q13753,HGNC:6493 +GARD:0012922,Orphanet,79402,ORPHA:79402,5,COL17A1,[BP180],collagen type XVII alpha 1 chain,gene with protein product,10q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301304],113811,ENSG00000065618,,Q9UMD9,Q9UMD9,HGNC:2194 +GARD:0012923,Orphanet,251393,ORPHA:251393,2,ITGB4,[CD104],integrin subunit beta 4,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,,147557,ENSG00000132470,2458,P16144,P16144,HGNC:6158 +GARD:0012923,Orphanet,251393,ORPHA:251393,2,COL17A1,[BP180],collagen type XVII alpha 1 chain,gene with protein product,10q25.1,Disease-causing germline mutation(s) in,Assessed,,113811,ENSG00000065618,,Q9UMD9,Q9UMD9,HGNC:2194 +GARD:0012924,Orphanet,275555,ORPHA:275555,3,STOX1,[FLJ25162],storkhead box 1,gene with protein product,10q22.1,Major susceptibility factor in,Assessed,[PMID:21490791],609397,ENSG00000165730,,Q6ZVD7,,HGNC:23508 +GARD:0012924,Orphanet,275555,ORPHA:275555,3,FLT1,"[VEGFR1, vascular endothelial growth factor receptor 1, vascular permeability factor receptor]",fms related receptor tyrosine kinase 1,gene with protein product,13q12.3,Major susceptibility factor in,Assessed,[PMID:28628106],165070,ENSG00000102755,1812,P17948,P17948,HGNC:3763 +GARD:0012924,Orphanet,275555,ORPHA:275555,3,CORIN,"[ATC2, CRN, Lrp4, PRSC, TMPRSS10]","corin, serine peptidase",gene with protein product,4p12,Major susceptibility factor in,Assessed,[PMID:22437503],605236,ENSG00000145244,,Q9Y5Q5,Q9Y5Q5,HGNC:19012 +GARD:0012931,Orphanet,404448,ORPHA:404448,1,ADNP,"[ADNP homeobox 1, ADNP1, KIAA0784, activity-dependent neuroprotective protein]",activity dependent neuroprotector homeobox,gene with protein product,20q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:24531329],611386,ENSG00000101126,,Q9H2P0,Q9H2P0,HGNC:15766 +GARD:0012943,Orphanet,89936,ORPHA:89936,1,PHEX,"[HPDR1, HYP1, PEX, XLH]",phosphate regulating endopeptidase homolog X-linked,gene with protein product,Xp22.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22319799],300550,ENSG00000102174,,P78562,,HGNC:8918 +GARD:0012949,Orphanet+OMIM,613477,OMIM:613477,1,SPTAN1,[alpha-fodrin],"spectrin alpha, non-erythrocytic 1",gene with protein product,9q34.11,The molecular basis of the disorder is known,Unknown,,182810,ENSG00000197694,,Q13813,Q13813,HGNC:11273 +GARD:0012958,Orphanet+OMIM,613652,OMIM:613652,3,C1QC,,complement C1q C chain,gene with protein product,1p36.12,The molecular basis of the disorder is known,Unknown,,120575,ENSG00000159189,,P02747,P02747,HGNC:1245 +GARD:0012958,Orphanet+OMIM,613652,OMIM:613652,3,C1QB,,complement C1q B chain,gene with protein product,1p36.12,The molecular basis of the disorder is known,Unknown,,120570,ENSG00000173369,,P02746,P02746,HGNC:1242 +GARD:0012958,Orphanet+OMIM,613652,OMIM:613652,3,C1QA,,complement C1q A chain,gene with protein product,1p36.12,The molecular basis of the disorder is known,Unknown,,120550,ENSG00000173372,,P02745,P02745,HGNC:1241 +GARD:0012963,Orphanet,352328,ORPHA:352328,1,SERAC1,[FLJ14917],serine active site containing 1,gene with protein product,6q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22683713],614725,ENSG00000122335,,Q96JX3,,HGNC:21061 +GARD:0012964,Orphanet,66634,ORPHA:66634,1,DNAJC19,"[Pam18, TIMM14, Tim14, mitochondrial import inner membrane translocase subunit TIM14]",DnaJ heat shock protein family (Hsp40) member C19,gene with protein product,3q26.33,Disease-causing germline mutation(s) in,Assessed,[PMID:16055927],608977,ENSG00000205981,,Q96DA6,Q96DA6,HGNC:30528 +GARD:0012976,Orphanet,319558,ORPHA:319558,1,IL12B,"[CLMF, CLMF2, IL-12B, IL12, subunit p40, NKSF, cytotoxic lymphocyte maturation factor 2, p40, interleukin 12, p40, interleukin-12 beta chain, natural killer cell stimulatory factor, 40 kD subunit, natural killer cell stimulatory factor-2]",interleukin 12B,gene with protein product,5q33.3,Disease-causing germline mutation(s) in,Assessed,,161561,ENSG00000113302,,P29460,P29460,HGNC:5970 +GARD:0012978,Orphanet,401768,ORPHA:401768,1,MICU1,"[CALC, EFHA3, FLJ12684]",mitochondrial calcium uptake 1,gene with protein product,10q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24336167],605084,ENSG00000107745,,Q9BPX6,Q9BPX6,HGNC:1530 +GARD:0012983,Orphanet,90045,ORPHA:90045,1,SLC46A1,"[HCP1, MGC9564, PCFT, heme carrier protein 1, proton-coupled folate transporter]",solute carrier family 46 member 1,gene with protein product,17q11.2,Disease-causing germline mutation(s) in,Assessed,,611672,ENSG00000076351,1213,Q96NT5,Q96NT5,HGNC:30521 +GARD:0012986,Orphanet,99901,ORPHA:99901,1,ACAD9,"[MGC14452, NPD002]",acyl-CoA dehydrogenase family member 9,gene with protein product,3q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17564966],611103,ENSG00000177646,,Q9H845,Q9H845,HGNC:21497 +GARD:0012987,Orphanet,314381,ORPHA:314381,1,DST,"[BP240, BPA, CATX-15, FLJ13425, FLJ21489, FLJ30627, FLJ32235, KIAA0728, MACF2]",dystonin,gene with protein product,6p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22522446],113810,ENSG00000151914,,Q03001,Q03001,HGNC:1090 +GARD:0012991,Orphanet,498359,ORPHA:498359,1,CFTR,"[ABC35, ATP-binding cassette sub-family C, member 7, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1]",CF transmembrane conductance regulator,gene with protein product,7q31.2,Candidate gene tested in,Not yet assessed,,602421,ENSG00000001626,707,P13569,P13569,HGNC:1884 +GARD:0013007,Orphanet,330041,ORPHA:330041,3,HBA2,[HBA-T2],hemoglobin subunit alpha 2,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:25031065, PMID:8416301]",141850,ENSG00000188536,,P69905,P69905,HGNC:4824 +GARD:0013007,Orphanet,330041,ORPHA:330041,3,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:8416301],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0013007,Orphanet,330041,ORPHA:330041,3,HBA1,[HBA-T3],hemoglobin subunit alpha 1,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:3026948, PMID:8416301]",141800,ENSG00000206172,,P69905,P69905,HGNC:4823 +GARD:0013015,Orphanet,66628,ORPHA:66628,1,LEP,,leptin,gene with protein product,7q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26567097],164160,ENSG00000174697,,P41159,P41159,HGNC:6553 +GARD:0013016,Orphanet,238569,ORPHA:238569,3,IL10RB,"[CDW210B, CRF2-4, IL-10R2]",interleukin 10 receptor subunit beta,gene with protein product,21q22.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22549091],123889,ENSG00000243646,1728,Q08334,Q08334,HGNC:5965 +GARD:0013016,Orphanet,238569,ORPHA:238569,3,IL10,"[CSIF, IL-10, IL10A, T-cell growth inhibitory factor, TGIF, cytokine synthesis inhibitory factor]",interleukin 10,gene with protein product,1q32.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22549091],124092,ENSG00000136634,,P22301,P22301,HGNC:5962 +GARD:0013016,Orphanet,238569,ORPHA:238569,3,IL10RA,"[CD210, CD210a, CDW210A, HIL-10R]",interleukin 10 receptor subunit alpha,gene with protein product,11q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22549091],146933,ENSG00000110324,1727,Q13651,Q13651,HGNC:5964 +GARD:0013019,Orphanet+OMIM,616277,OMIM:616277,1,ECHS1,"[SCEH, short chain enoyl-CoA hydratase]","enoyl-CoA hydratase, short chain 1",gene with protein product,10q26.3,The molecular basis of the disorder is known,Unknown,,602292,ENSG00000127884,,P30084,P30084,HGNC:3151 +GARD:0013025,Orphanet,79414,ORPHA:79414,1,HRAS,,"HRas proto-oncogene, GTPase",gene with protein product,11p15.5,Disease-causing somatic mutation(s) in,Assessed,[PMID:24129065],190020,ENSG00000174775,2822,P01112,P01112,HGNC:5173 +GARD:0013030,Orphanet,3226,ORPHA:3226,1,GATA2,[NFE1B],GATA binding protein 2,gene with protein product,3q21.3,Major susceptibility factor in,Not yet assessed,,137295,ENSG00000179348,,P23769,P23769,HGNC:4171 +GARD:0013032,Orphanet,300570,ORPHA:300570,1,TUBB3,"[CFEOM3, CFEOM3A, beta-4, class III beta-tubulin]",tubulin beta 3 class III,gene with protein product,16q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20829227],602661,ENSG00000258947,2752,Q13509,Q13509,HGNC:20772 +GARD:0013041,Orphanet+OMIM,612304,OMIM:612304,1,PROC,"[coagulation factor XIV, prepro-protein C]","protein C, inactivator of coagulation factors Va and VIIIa",gene with protein product,2q14.3,The molecular basis of the disorder is known,Unknown,,612283,ENSG00000115718,objectId:2396,P04070,P04070,HGNC:9451 +GARD:0013043,Orphanet,329224,ORPHA:329224,1,PACS1,"[FLJ10209, KIAA1175]",phosphofurin acidic cluster sorting protein 1,gene with protein product,11q13.1-q13.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23159249],607492,ENSG00000175115,,Q6VY07,Q6VY07,HGNC:30032 +GARD:0013056,Orphanet,86816,ORPHA:86816,1,ALB,,albumin,gene with protein product,4q13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15996651, PMID:7937781]",103600,ENSG00000163631,,P02768,P02768,HGNC:399 +GARD:0013058,Orphanet,65743,ORPHA:65743,1,MYH3,"[HEMHC, MYHC-EMB, MYHSE1, SMHCE, muscle embryonic myosin heavy chain 3, myosin, skeletal, heavy chain, embryonic 1]",myosin heavy chain 3,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25957469],160720,ENSG00000109063,,P11055,P11055,HGNC:7573 +GARD:0013059,Orphanet,329457,ORPHA:329457,1,ECEL1,"[DINE, Damage induced neuronal endopeptidase, XCE, damage induced neuronal endopeptidase]",endothelin converting enzyme like 1,gene with protein product,2q37.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23261301],605896,ENSG00000171551,,O95672,,HGNC:3147 +GARD:0013060,Orphanet,439218,ORPHA:439218,1,KCNQ2,"[BFNC, ENB1, HNSPC, KCNA11, Kv7.2]",potassium voltage-gated channel subfamily Q member 2,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:20437616, PMID:23621294]",602235,ENSG00000075043,561,O43526,O43526,HGNC:6296 +GARD:0013072,Orphanet,30924,ORPHA:30924,1,TRPM6,"[CHAK2, FLJ22628]",transient receptor potential cation channel subfamily M member 6,gene with protein product,9q21.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:12032568, PMID:12032570]",607009,ENSG00000119121,498,Q9BX84,Q9BX84,HGNC:17995 +GARD:0013073,Orphanet,64754,ORPHA:64754,1,NEK9,"[DKFZp434D0935, MGC16714, NERCC, NERCC1, Nek8]",NIMA related kinase 9,gene with protein product,14q24.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:27153399],609798,ENSG00000119638,2124,Q8TD19,Q8TD19,HGNC:18591 +GARD:0013085,Orphanet+OMIM,614558,OMIM:614558,1,SCN8A,"[CIAT, CerIII, NaCh6, Nav1.6, PN4]",sodium voltage-gated channel alpha subunit 8,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,600702,ENSG00000196876,objectId:583,Q9UQD0,Q9UQD0,HGNC:10596 +GARD:0013101,Orphanet,199247,ORPHA:199247,1,SERPINA6,"[corticosteroid binding globulin, transcortin]",serpin family A member 6,gene with protein product,14q32.13,Disease-causing germline mutation(s) in,Assessed,[PMID:12780753],122500,ENSG00000170099,,P08185,,HGNC:1540 +GARD:0013108,Orphanet,494433,ORPHA:494433,1,SAMD9,"[FLJ20073, KIAA2004]",sterile alpha motif domain containing 9,gene with protein product,7q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27182967],610456,ENSG00000205413,,Q5K651,,HGNC:1348 +GARD:0013111,Orphanet,459033,ORPHA:459033,1,PNKP,[PNK],polynucleotide kinase 3'-phosphatase,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:25728773],605610,ENSG00000039650,,Q96T60,Q96T60,HGNC:9154 +GARD:0013112,Orphanet+OMIM,615217,OMIM:615217,1,PIK3R5,"[P101-PI3K, p101]",phosphoinositide-3-kinase regulatory subunit 5,gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,611317,ENSG00000141506,objectId:2506,Q8WYR1,Q8WYR1,HGNC:30035 +GARD:0013113,Orphanet+OMIM,616483,OMIM:616483,1,NBAS,[NAG],NBAS subunit of NRZ tethering complex,gene with protein product,2p24.3,The molecular basis of the disorder is known,Unknown,,608025,ENSG00000151779,,A2RRP1,A2RRP1,HGNC:15625 +GARD:0013114,Orphanet,370088,ORPHA:370088,1,LARS1,"[FLJ10595, FLJ21788, HSPC192, LARS1, LEUS, RNTLS, leucine tRNA ligase 1, cytoplasmic]",leucyl-tRNA synthetase 1,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,[PMID:22607940],151350,ENSG00000133706,,Q9P2J5,Q9P2J5,HGNC:6512 +GARD:0013125,Orphanet,435651,ORPHA:435651,1,CIDEC,"[CIDE-3, FLJ20871, Fsp27]",cell death inducing DFFA like effector c,gene with protein product,3p25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20049731],612120,ENSG00000187288,,Q96AQ7,Q96AQ7,HGNC:24229 +GARD:0013126,Orphanet,435660,ORPHA:435660,1,LIPE,[HSL],"lipase E, hormone sensitive type",gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25475467],151750,ENSG00000079435,2593,Q05469,Q05469,HGNC:6621 +GARD:0013136,Orphanet+OMIM,616083,OMIM:616083,1,ZMYND11,"[BRAM1, BS69]",zinc finger MYND-type containing 11,gene with protein product,10p15.3,The molecular basis of the disorder is known,Unknown,,608668,ENSG00000015171,objectId:2782,Q15326,,HGNC:16966 +GARD:0013137,Orphanet,369962,ORPHA:369962,1,HCFC1,"[CFF, HCF-1, HCF1, MGC70925, PPP1R89, VCAF, VP16-accessory protein, protein phosphatase 1, regulatory subunit 89]",host cell factor C1,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:24011988],300019,ENSG00000172534,,P51610,P51610,HGNC:4839 +GARD:0013154,Orphanet,609,ORPHA:609,1,TTN,"[CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD]",titin,gene with protein product,2q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301498],188840,ENSG00000155657,2265,Q8WZ42,Q8WZ42,HGNC:12403 +GARD:0013155,Orphanet,441452,ORPHA:441452,11,CRYGC,,crystallin gamma C,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12011157],123680,ENSG00000163254,,P07315,,HGNC:2410 +GARD:0013155,Orphanet,441452,ORPHA:441452,11,CRYGD,,crystallin gamma D,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:12011157, PMID:21866214]",123690,ENSG00000118231,,P07320,,HGNC:2411 +GARD:0013155,Orphanet,441452,ORPHA:441452,11,CRYAB,[HSPB5],crystallin alpha B,gene with protein product,11q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16505043],123590,ENSG00000109846,,P02511,P02511,HGNC:2389 +GARD:0013155,Orphanet,441452,ORPHA:441452,11,BFSP2,"[CP47, CP49, LIFL-L, phakinin]",beaded filament structural protein 2,gene with protein product,3q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:10729115, PMID:18958306]",603212,ENSG00000170819,,Q13515,Q13515,HGNC:1041 +GARD:0013155,Orphanet,441452,ORPHA:441452,11,CRYBA1,[eye lens structural protein],crystallin beta A1,gene with protein product,17q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:15016766],123610,ENSG00000108255,,P05813,P05813,HGNC:2394 +GARD:0013155,Orphanet,441452,ORPHA:441452,11,CRYGB,,crystallin gamma B,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23288985],123670,ENSG00000182187,,P07316,,HGNC:2409 +GARD:0013155,Orphanet,441452,ORPHA:441452,11,CRYAA,[HSPB4],crystallin alpha A,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23255486],123580,ENSG00000160202,,P02489,,HGNC:2388 +GARD:0013155,Orphanet,441452,ORPHA:441452,11,CRYGS,"[crystallin, gamma 8]",crystallin gamma S,gene with protein product,3q27.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:16141006, PMID:18587492]",123730,ENSG00000213139,,P22914,,HGNC:2417 +GARD:0013155,Orphanet,441452,ORPHA:441452,11,MIP,"[AQP0, LIM1, MP26, aquaporin 0]",major intrinsic protein of lens fiber,gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23116563],154050,ENSG00000135517,687,P30301,P30301,HGNC:7103 +GARD:0013155,Orphanet,441452,ORPHA:441452,11,HSF4,,heat shock transcription factor 4,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12089525],602438,ENSG00000102878,,Q9ULV5,,HGNC:5227 +GARD:0013155,Orphanet,441452,ORPHA:441452,11,CRYBA4,,crystallin beta A4,gene with protein product,22q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16960806],123631,ENSG00000196431,,P53673,P53673,HGNC:2396 +GARD:0013157,Orphanet,47044,ORPHA:47044,1,MET,"[DFNB97, HGFR, RCCP2, hepatocyte growth factor receptor]","MET proto-oncogene, receptor tyrosine kinase",gene with protein product,7q31,Disease-causing germline mutation(s) in,Assessed,,164860,ENSG00000105976,1815,P08581,P08581,HGNC:7029 +GARD:0013167,Orphanet,411788,ORPHA:411788,1,FGF5,,fibroblast growth factor 5,gene with protein product,4q21.21,Disease-causing germline mutation(s) in,Assessed,[PMID:24989505],165190,ENSG00000138675,,P12034,P12034,HGNC:3683 +GARD:0013169,Orphanet,263463,ORPHA:263463,1,CHST3,"[C6ST, C6ST1, chondroitin 6 sulfotransferase 1]",carbohydrate sulfotransferase 3,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20830804, PMID:21882400]",603799,ENSG00000122863,,Q7LGC8,Q7LGC8,HGNC:1971 +GARD:0013171,Orphanet,448242,ORPHA:448242,1,PAPSS2,"[ATPSK2, PAPS synthase 2, adenosine 5'-phosphosulfate kinase, adenylyl-sulfate kinase, bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2, sulfate adenylyltransferase]",3'-phosphoadenosine 5'-phosphosulfate synthase 2,gene with protein product,10q23.2-q23.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22791835],603005,ENSG00000198682,,O95340,O95340,HGNC:8604 +GARD:0013174,Orphanet+OMIM,157640,OMIM:157640,1,POLG,"[POLG1, POLGA]","DNA polymerase gamma, catalytic subunit",gene with protein product,15q26.1,The molecular basis of the disorder is known,Unknown,,174763,ENSG00000140521,,P54098,,HGNC:9179 +GARD:0013177,Orphanet,88618,ORPHA:88618,1,AHCY,[SAHH],adenosylhomocysteinase,gene with protein product,20q11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:16435181],180960,ENSG00000101444,1233,P23526,P23526,HGNC:343 +GARD:0013179,Orphanet+OMIM,616977,OMIM:616977,1,HIVEP2,"[HIV-EP2, MBP-2, MIBP1, Schnurri-2, ZAS2, ZNF40B, c-myc intron binding protein 1]",HIVEP zinc finger 2,gene with protein product,6q24.2,The molecular basis of the disorder is known,Unknown,,143054,ENSG00000010818,,P31629,,HGNC:4921 +GARD:0013197,Orphanet+OMIM,615369,OMIM:615369,1,CHD2,"[DKFZp547I1315, DKFZp686E01200, DKFZp781D1727, FLJ38614]",chromodomain helicase DNA binding protein 2,gene with protein product,15q26.1,The molecular basis of the disorder is known,Unknown,,602119,ENSG00000173575,,O14647,,HGNC:1917 +GARD:0013198,Orphanet,500062,ORPHA:500062,1,OTULIN,"[FLJ34884, gumby, ubiquitin thioesterase otulin]",OTU deubiquitinase with linear linkage specificity,gene with protein product,5p15.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:27523608, PMID:27559085, PMID:27686184]",615712,ENSG00000154124,2910,Q96BN8,Q96BN8,HGNC:25118 +GARD:0013199,Orphanet,85136,ORPHA:85136,2,RNASET2,"[FLJ10907, RNASE6PL, bA514O12.3]",ribonuclease T2,gene with protein product,6q27,Disease-causing germline mutation(s) in,Assessed,[PMID:19525954],612944,ENSG00000026297,,O00584,O00584,HGNC:21686 +GARD:0013199,Orphanet,85136,ORPHA:85136,2,NDUFA2,"[B8, complex I B8 subunit]",NADH:ubiquinone oxidoreductase subunit A2,gene with protein product,5q31.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28857146],602137,ENSG00000131495,,O43678,O43678,HGNC:7685 +GARD:0013200,Orphanet,255235,ORPHA:255235,1,RRM2B,[p53R2],ribonucleotide reductase regulatory TP53 inducible subunit M2B,gene with protein product,8q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24741716],604712,ENSG00000048392,2754,Q7LG56,Q7LG56,HGNC:17296 +GARD:0013201,Orphanet,401948,ORPHA:401948,1,CA5A,"[CAV, CAVA]",carbonic anhydrase 5A,gene with protein product,16q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24530203],114761,ENSG00000174990,3093,P35218,P35218,HGNC:1377 +GARD:0013202,Orphanet,88639,ORPHA:88639,1,HIBCH,,3-hydroxyisobutyryl-CoA hydrolase,gene with protein product,2q32.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:17160907, PMID:24299452]",610690,ENSG00000198130,,Q6NVY1,Q6NVY1,HGNC:4908 +GARD:0013206,Orphanet,251019,ORPHA:251019,1,SATB2,"[FLJ21474, KIAA1034]",SATB homeobox 2,gene with protein product,2q33.1,Role in the phenotype of,Assessed,[PMID:16179223],608148,ENSG00000119042,,Q9UPW6,Q9UPW6,HGNC:21637 +GARD:0013209,Orphanet,95496,ORPHA:95496,7,ROBO1,"[DUTT1, FLJ21882, SAX3]",roundabout guidance receptor 1,gene with protein product,3p12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28402530],602430,ENSG00000169855,,Q9Y6N7,Q9Y6N7,HGNC:10249 +GARD:0013209,Orphanet,95496,ORPHA:95496,7,HESX1,"[ANF, RPX]",HESX homeobox 1,gene with protein product,3p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21270112],601802,ENSG00000163666,,Q9UBX0,Q9UBX0,HGNC:4877 +GARD:0013209,Orphanet,95496,ORPHA:95496,7,WDR11,"[DR11, FLJ10506, HH14, KIAA1351, SRI1, WDR15, sensitization to ricin complex subunit 1]",WD repeat domain 11,gene with protein product,10q26.12,Candidate gene tested in,Assessed,[PMID:28453850],606417,ENSG00000120008,,Q9BZH6,,HGNC:13831 +GARD:0013209,Orphanet,95496,ORPHA:95496,7,CDON,"[CDO, CDON1, Ihog, ORCAM, cell adhesion molecule-related/down-regulated by oncogenes]","cell adhesion associated, oncogene regulated",gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26529631],608707,ENSG00000064309,,Q4KMG0,Q4KMG0,HGNC:17104 +GARD:0013209,Orphanet,95496,ORPHA:95496,7,GPR161,[RE2],G protein-coupled receptor 161,gene with protein product,1q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25322266],612250,ENSG00000143147,141,Q8N6U8,Q8N6U8,HGNC:23694 +GARD:0013209,Orphanet,95496,ORPHA:95496,7,LHX4,[Gsh4],LIM homeobox 4,gene with protein product,1q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21270112],602146,ENSG00000121454,,Q969G2,Q969G2,HGNC:21734 +GARD:0013209,Orphanet,95496,ORPHA:95496,7,PROKR2,"[GPR73b, GPRg2, PKR2, dJ680N4.3]",prokineticin receptor 2,gene with protein product,20p12.3,Candidate gene tested in,Assessed,[PMID:28453850],607123,ENSG00000101292,336,Q8NFJ6,Q8NFJ6,HGNC:15836 +GARD:0013218,Orphanet,221043,ORPHA:221043,1,FAM111B,[CANP],FAM111 trypsin like peptidase B,gene with protein product,11q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24268661],615584,ENSG00000189057,,Q6SJ93,Q6SJ93,HGNC:24200 +GARD:0013219,Orphanet,289539,ORPHA:289539,1,BAP1,"[KIAA0272, UCHL2, hucep-6, ubiquitin carboxy-terminal hydrolase]",BRCA1 associated protein 1,gene with protein product,3p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21956388],603089,ENSG00000163930,2332,Q92560,Q92560,HGNC:950 +GARD:0013221,Orphanet,397933,ORPHA:397933,1,IQSEC2,"[BRAG1, IQ-ArfGEF, KIAA0522, brefeldin A resistant Arf-guanine nucleotide exchange factor 1]",IQ motif and Sec7 domain ArfGEF 2,gene with protein product,Xp11.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23674175],300522,ENSG00000124313,,Q5JU85,,HGNC:29059 +GARD:0013222,Orphanet,363454,ORPHA:363454,1,BICD2,[KIAA0699],BICD cargo adaptor 2,gene with protein product,9q22.31,Disease-causing germline mutation(s) in,Assessed,[PMID:23664119],609797,ENSG00000185963,,Q8TD16,Q8TD16,HGNC:17208 +GARD:0013232,Orphanet,88619,ORPHA:88619,1,RANBP2,"[ADANE, NUP358, nucleoporin 358]",RAN binding protein 2,gene with protein product,2q13,Disease-causing germline mutation(s) in,Assessed,"[PMID:19807769, PMID:19811512]",601181,ENSG00000153201,,P49792,P49792,HGNC:9848 +GARD:0013235,Orphanet+OMIM,615524,OMIM:615524,1,RARB,"[HAP, NR1B2, RAR-beta, RARbeta, RRB2]",retinoic acid receptor beta,gene with protein product,3p24.2,The molecular basis of the disorder is known,Unknown,,180220,ENSG00000077092,objectId:591,P10826,P10826,HGNC:9865 +GARD:0013244,Orphanet,85293,ORPHA:85293,1,CUL4B,,cullin 4B,gene with protein product,Xq24,Disease-causing germline mutation(s) in,Assessed,"[PMID:17236139, PMID:2000245]",300304,ENSG00000158290,,Q13620,Q13620,HGNC:2555 +GARD:0013259,Orphanet,352577,ORPHA:352577,1,ASXL3,,ASXL transcriptional regulator 3,gene with protein product,18q12.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23383720],615115,ENSG00000141431,,Q9C0F0,,HGNC:29357 +GARD:0013264,Orphanet,313850,ORPHA:313850,1,ACO2,"[ACONM, aconitate hydratase, mitochondrial, mitochondrial aconitase]",aconitase 2,gene with protein product,22q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22405087],100850,ENSG00000100412,,Q99798,Q99798,HGNC:118 +GARD:0013273,Orphanet,284417,ORPHA:284417,1,PSAT1,"[PSA, PSAT, phosphoserine transaminase]",phosphoserine aminotransferase 1,gene with protein product,9q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17436247],610936,ENSG00000135069,,Q9Y617,Q9Y617,HGNC:19129 +GARD:0013293,Orphanet,98885,ORPHA:98885,1,GP6,"[GPVI, platelet glycoprotein VI]",glycoprotein VI platelet,gene with protein product,19q13.42,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19549989, PMID:19552682]",605546,ENSG00000088053,,Q9HCN6,Q9HCN6,HGNC:14388 +GARD:0013295,Orphanet,98820,ORPHA:98820,3,NPRL3,"[CGTHBA, HS-40, MARE, NPR3, RMD11, conserved gene telomeric to alpha globin cluster]","NPR3 like, GATOR1 complex subunit",gene with protein product,16p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26505888, PMID:27173016]",600928,ENSG00000103148,,Q12980,,HGNC:14124 +GARD:0013295,Orphanet,98820,ORPHA:98820,3,NPRL2,"[NPR2, NPR2L]","NPR2 like, GATOR1 complex subunit",gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26505888, PMID:27173016]",607072,ENSG00000114388,,Q8WTW4,,HGNC:24969 +GARD:0013295,Orphanet,98820,ORPHA:98820,3,DEPDC5,"[DEP.5, KIAA0645]","DEP domain containing 5, GATOR1 subcomplex subunit",gene with protein product,22q12.2-q12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23542697, PMID:23542701]",614191,ENSG00000100150,,O75140,,HGNC:18423 +GARD:0013297,Orphanet,261265,ORPHA:261265,2,HNF1B,"[HNF1beta, HNF1ß, LFB3, MODY5, VHNF1, hepatocyte nuclear factor 1 beta]",HNF1 homeobox B,gene with protein product,17q12,Role in the phenotype of,Not yet assessed,,189907,ENSG00000275410,,P35680,P35680,HGNC:11630 +GARD:0013297,Orphanet,261265,ORPHA:261265,2,LHX1,"[LIM-1, LIM1]",LIM homeobox 1,gene with protein product,17q12,Role in the phenotype of,Assessed,[PMID:22740494],601999,ENSG00000273706,,P48742,,HGNC:6593 +GARD:0013298,Orphanet,369897,ORPHA:369897,1,FBXL4,"[FBL4, FBL5]",F-box and leucine rich repeat protein 4,gene with protein product,6q16.1-q16.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23993193, PMID:23993194]",605654,ENSG00000112234,,Q9UKA2,Q9UKA2,HGNC:13601 +GARD:0013316,Orphanet,398069,ORPHA:398069,1,MAGEL2,[nM15],MAGE family member L2,gene with protein product,15q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24076603],605283,ENSG00000254585,,Q9UJ55,Q9UJ55,HGNC:6814 +GARD:0013318,Orphanet+OMIM,613722,OMIM:613722,1,PLCB1,"[KIAA0581, PLC-I, PLC154, phosphoinositide phospholipase C]",phospholipase C beta 1,gene with protein product,20p12.3,The molecular basis of the disorder is known,Unknown,,607120,ENSG00000182621,objectId:1403,Q9NQ66,Q9NQ66,HGNC:15917 +GARD:0013319,Orphanet,438178,ORPHA:438178,1,FAR1,"[FLJ22728, SDR10E1, short chain dehydrogenase/reductase family 10E, member 1]",fatty acyl-CoA reductase 1,gene with protein product,11p15.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25439727],616107,ENSG00000197601,,Q8WVX9,Q8WVX9,HGNC:26222 +GARD:0013320,Orphanet,468717,ORPHA:468717,1,PEX5,"[PTS1R, peroxisomal import receptor 5, peroxisomal targeting signal 1 receptor]",peroxisomal biogenesis factor 5,gene with protein product,12p13.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26220973],600414,ENSG00000139197,,P50542,P50542,HGNC:9719 +GARD:0013339,Orphanet,464336,ORPHA:464336,1,CARD11,"[BIMP3, CARMA1, bcl10-interacting maguk protein 3, card-maguk protein 1]",caspase recruitment domain family member 11,gene with protein product,7p22.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:23129749, PMID:25352053, PMID:25930198]",607210,ENSG00000198286,,Q9BXL7,Q9BXL7,HGNC:16393 +GARD:0013349,Orphanet,420584,ORPHA:420584,1,GLI2,"[HPE9, THP1, THP2, tax helper protein 1, tax helper protein 2, tax-responsive element-2 holding protein]",GLI family zinc finger 2,gene with protein product,2q14.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24744436],165230,ENSG00000074047,,P10070,P10070,HGNC:4318 +GARD:0013354,Orphanet,35737,ORPHA:35737,1,PAX6,"[AN, Aniridia 1, Aniridia 2, D11S812E, WAGR, aniridia, keratitis]",paired box 6,gene with protein product,11p13,Candidate gene tested in,Not yet assessed,[PMID:12721955],607108,ENSG00000007372,,P26367,P26367,HGNC:8620 +GARD:0013376,Orphanet+OMIM,614135,OMIM:614135,1,COL9A1,,collagen type IX alpha 1 chain,gene with protein product,6q13,The molecular basis of the disorder is known,Unknown,,120210,ENSG00000112280,,P20849,P20849,HGNC:2217 +GARD:0013378,Orphanet+OMIM,615473,OMIM:615473,1,GNAO1,[G-ALPHA-o],G protein subunit alpha o1,gene with protein product,16q13,The molecular basis of the disorder is known,Unknown,,139311,ENSG00000087258,,P09471,P09471,HGNC:4389 +GARD:0013379,Orphanet+OMIM,616078,OMIM:616078,1,SETBP1,"[KIAA0437, SEB]",SET binding protein 1,gene with protein product,18q12.3,The molecular basis of the disorder is known,Unknown,,611060,ENSG00000152217,,Q9Y6X0,,HGNC:15573 +GARD:0013388,Orphanet,528,ORPHA:528,6,BSCL2,[seipin],"BSCL2 lipid droplet biogenesis associated, seipin",gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301391],606158,ENSG00000168000,,Q96G97,,HGNC:15832 +GARD:0013388,Orphanet,528,ORPHA:528,6,FOS,"[AP-1, c-fos]","Fos proto-oncogene, AP-1 transcription factor subunit",gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23919306],164810,ENSG00000170345,,P01100,P01100,HGNC:3796 +GARD:0013388,Orphanet,528,ORPHA:528,6,CAVIN1,"[CGL4, cavin-1, congenital generalized lipodystrophy 4]",caveolae associated protein 1,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20684003, PMID:27894728]",603198,ENSG00000177469,,Q6NZI2,Q6NZI2,HGNC:9688 +GARD:0013388,Orphanet,528,ORPHA:528,6,AGPAT2,"[LPAAT-beta, lysophosphatidic acid acyltransferase, beta, lysophosphatidic acid acyltransferase-beta]",1-acylglycerol-3-phosphate O-acyltransferase 2,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301391],603100,ENSG00000169692,,O15120,O15120,HGNC:325 +GARD:0013388,Orphanet,528,ORPHA:528,6,PPARG,"[NR1C3, PPARG1, PPARG2, PPARgamma]",peroxisome proliferator activated receptor gamma,gene with protein product,3p25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24980513],601487,ENSG00000132170,595,P37231,P37231,HGNC:9236 +GARD:0013388,Orphanet,528,ORPHA:528,6,CAV1,,caveolin 1,gene with protein product,7q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18211975],601047,ENSG00000105974,,Q03135,Q03135,HGNC:1527 +GARD:0013389,Orphanet+OMIM,612526,OMIM:612526,1,CAV1,,caveolin 1,gene with protein product,7q31.2,The molecular basis of the disorder is known,Unknown,,601047,ENSG00000105974,,Q03135,Q03135,HGNC:1527 +GARD:0013390,Orphanet,94063,ORPHA:94063,2,LEMD3,"[MAN antigen 1, MAN1, inner nuclear membrane protein Man1]",LEM domain containing 3,gene with protein product,12q14.3,Role in the phenotype of,Assessed,[PMID:17220210],607844,ENSG00000174106,,Q9Y2U8,Q9Y2U8,HGNC:28887 +GARD:0013390,Orphanet,94063,ORPHA:94063,2,HMGA2,"[BABL, LIPO]",high mobility group AT-hook 2,gene with protein product,12q14.3,Role in the phenotype of,Assessed,[PMID:28407409],600698,ENSG00000149948,,P52926,P52926,HGNC:5009 +GARD:0013409,Orphanet,412069,ORPHA:412069,1,AHDC1,"[DJ159A19.3, RP1-159A19.1]",AT-hook DNA binding motif containing 1,gene with protein product,1p36.11-p35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24791903],615790,ENSG00000126705,,Q5TGY3,Q5TGY3,HGNC:25230 +GARD:0013418,Orphanet,453504,ORPHA:453504,1,HNRNPK,"[CSBP, TUNP, transformation upregulated nuclear protein]",heterogeneous nuclear ribonucleoprotein K,gene with protein product,9q21.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26173930],600712,ENSG00000165119,,P61978,P61978,HGNC:5044 +GARD:0013423,Orphanet,480864,ORPHA:480864,1,TANGO2,[DKFZp761P1121],transport and golgi organization 2 homolog,gene with protein product,22q11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26805781, PMID:26805782]",616830,ENSG00000183597,,Q6ICL3,,HGNC:25439 +GARD:0013425,Orphanet,447997,ORPHA:447997,1,SLC1A4,"[ASCT1, SATT, alanine/serine/cysteine/threonine transporter]",solute carrier family 1 member 4,gene with protein product,2p14,Disease-causing germline mutation(s) in,Assessed,"[PMID:25930971, PMID:26041762, PMID:26138499]",600229,ENSG00000115902,873,P43007,P43007,HGNC:10942 +GARD:0013461,Orphanet,217330,ORPHA:217330,1,REN,,renin,gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21473025],179820,ENSG00000143839,2413,P00797,P00797,HGNC:9958 +GARD:0013472,Orphanet,247790,ORPHA:247790,1,FTH1,"[FHC, FTH, PIG15, PLIF, apoferritin, placenta immunoregulatory factor, proliferation-inducing protein 15]",ferritin heavy chain 1,gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11389486],134770,ENSG00000167996,,P02794,P02794,HGNC:3976 +GARD:0013474,Orphanet,468620,ORPHA:468620,1,DEAF1,"[NUDR, SPN, ZMYND5]",DEAF1 transcription factor,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:26048982],602635,ENSG00000177030,,O75398,O75398,HGNC:14677 +GARD:0013488,Orphanet,508093,ORPHA:508093,1,MECR,"[CGI-63, ETR1, FASN2B, NRBF1, mitochondrial 2-enoyl thioester reductase, nuclear receptor binding factor 1]",mitochondrial trans-2-enoyl-CoA reductase,gene with protein product,1p35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27817865],608205,ENSG00000116353,,Q9BV79,Q9BV79,HGNC:19691 +GARD:0013489,Orphanet,500150,ORPHA:500150,1,SON,"[BASS1, Bax antagonist selected in Saccharomyces 1, DBP-5, FLJ21099, FLJ33914, KIAA1019, NRE-binding protein, NREBP, negative regulatory element-binding protein]",SON DNA and RNA binding protein,gene with protein product,21q22.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:27256762, PMID:27545676, PMID:27545680]",182465,ENSG00000159140,,P18583,,HGNC:11183 +GARD:0013519,Orphanet,209341,ORPHA:209341,1,DYNC1H1,"[CMT2O, DHC1, Dnchc1, HL-3, p22]",dynein cytoplasmic 1 heavy chain 1,gene with protein product,14q32.31,Disease-causing germline mutation(s) in,Assessed,[PMID:22459677],600112,ENSG00000197102,,Q14204,Q14204,HGNC:2961 +GARD:0013524,Orphanet+OMIM,617854,OMIM:617854,1,CLTC,[Hc],clathrin heavy chain,gene with protein product,17q23.1,The molecular basis of the disorder is known,Unknown,,118955,ENSG00000141367,,Q00610,Q00610,HGNC:2092 +GARD:0013539,Orphanet+OMIM,616579,OMIM:616579,1,CHAMP1,"[CAMP, CHAMP, chromosome alignment-maintaining phosphoprotein]",chromosome alignment maintaining phosphoprotein 1,gene with protein product,13q34,The molecular basis of the disorder is known,Unknown,,616327,ENSG00000198824,,Q96JM3,,HGNC:20311 +GARD:0013565,Orphanet,445018,ORPHA:445018,1,LRBA,"[BGL, LAB300, LBA]",LPS responsive beige-like anchor protein,gene with protein product,4q31.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22608502, PMID:25468195]",606453,ENSG00000198589,,P50851,,HGNC:1742 +GARD:0013568,Orphanet,320385,ORPHA:320385,1,TECPR2,,tectonin beta-propeller repeat containing 2,gene with protein product,14q32.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23176824],615000,ENSG00000196663,,O15040,,HGNC:19957 +GARD:0013571,Orphanet,293955,ORPHA:293955,1,TPK1,"[HTPK1, PP20, Placental protein 20, Thiamine diphosphokinase, Thiamine kinase, Thiamine pyrophosphokinase 1, placental protein 20, thiamine diphosphokinase, thiamine kinase, thiamine pyrophosphokinase 1]",thiamin pyrophosphokinase 1,gene with protein product,7q35,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22152682],606370,ENSG00000196511,,Q9H3S4,Q9H3S4,HGNC:17358 +GARD:0013587,Orphanet,157949,ORPHA:157949,3,RAG2,,recombination activating 2,gene with protein product,11p12,Disease-causing germline mutation(s) in,Assessed,[PMID:18463379],179616,ENSG00000175097,,P55895,P55895,HGNC:9832 +GARD:0013587,Orphanet,157949,ORPHA:157949,3,RAG1,"[MGC43321, RING finger protein 74, RNF74, V(D)J recombination-activating protein 1, recombination activating protein 1]",recombination activating 1,gene with protein product,11p12,Disease-causing germline mutation(s) in,Assessed,[PMID:18463379],179615,ENSG00000166349,,P15918,P15918,HGNC:9831 +GARD:0013587,Orphanet,157949,ORPHA:157949,3,INO80,"[INO80 complex subunit A, INO80A, KIAA1259, hINO80]",INO80 complex ATPase subunit,gene with protein product,15q15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25312759],610169,ENSG00000128908,,Q9ULG1,Q9ULG1,HGNC:26956 +GARD:0013591,Orphanet,443236,ORPHA:443236,1,SLC6A2,"[NET, norepinephrine transporter]",solute carrier family 6 member 2,gene with protein product,16q12.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:10684912],163970,ENSG00000103546,926,P23975,P23975,HGNC:11048 +GARD:0013594,Orphanet,352649,ORPHA:352649,1,SLC18A2,"[SVAT, SVMT]",solute carrier family 18 member A2,gene with protein product,10q25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23363473],193001,ENSG00000165646,1012,Q05940,Q05940,HGNC:10935 +GARD:0013621,Orphanet,448010,ORPHA:448010,1,CAD,[GATD4],"carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase",gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25678555],114010,ENSG00000084774,,P27708,P27708,HGNC:1424 +GARD:0013636,Orphanet,457485,ORPHA:457485,1,MTOR,"[FK506 binding protein 12-rapamycin associated protein 2, FKBP-rapamycin associated protein, FKBP12-rapamycin complex-associated protein 1, FLJ44809, RAFT1, RAPT1, dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1), mammalian target of rapamycin, rapamycin and FKBP12 target 1, rapamycin associated protein FRAP2, rapamycin target protein]",mechanistic target of rapamycin kinase,gene with protein product,1p36.22,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:25851998, PMID:26542245]",601231,ENSG00000198793,2109,P42345,P42345,HGNC:3942 +GARD:0013638,Orphanet,480880,ORPHA:480880,1,USP9X,"[DFFRX, FAF, MRX99]",ubiquitin specific peptidase 9 X-linked,gene with protein product,Xp11.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26833328],300072,ENSG00000124486,,Q93008,Q93008,HGNC:12632 +GARD:0013639,Orphanet,79239,ORPHA:79239,1,GALT,,galactose-1-phosphate uridylyltransferase,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301691],606999,ENSG00000213930,,P07902,P07902,HGNC:4135 +GARD:0013641,Orphanet,221061,ORPHA:221061,3,KRIT1,[CAM],KRIT1 ankyrin repeat containing,gene with protein product,7q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301470],604214,ENSG00000001631,,O00522,,HGNC:1573 +GARD:0013641,Orphanet,221061,ORPHA:221061,3,PDCD10,[TFAR15],programmed cell death 10,gene with protein product,3q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301470],609118,ENSG00000114209,,Q9BUL8,Q9BUL8,HGNC:8761 +GARD:0013641,Orphanet,221061,ORPHA:221061,3,CCM2,"[MGC4607, OSM, malcavernin, osmosensing scaffold for MEKK3]",CCM2 scaffold protein,gene with protein product,7p13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301470],607929,ENSG00000136280,,Q9BSQ5,,HGNC:21708 +GARD:0013644,Orphanet,279934,ORPHA:279934,1,DGUOK,[dGK],deoxyguanosine kinase,gene with protein product,2p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301766],601465,ENSG00000114956,,Q16854,Q16854,HGNC:2858 +GARD:0013655,Orphanet,434179,ORPHA:434179,1,C2CD3,[DKFZP586P0123],C2 domain containing 3 centriole elongation regulator,gene with protein product,11q13.4,Disease-causing germline mutation(s) in,Assessed,[PMID:24997988],615944,ENSG00000168014,,Q4AC94,Q4AC94,HGNC:24564 +GARD:0013658,Orphanet,500180,ORPHA:500180,1,UBTF,"[NOR-90, UBF, UBF1, UBF2]",upstream binding transcription factor,gene with protein product,17q21.31,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:28777933],600673,ENSG00000108312,,P17480,P17480,HGNC:12511 +GARD:0013661,Orphanet,324604,ORPHA:324604,3,TTN,"[CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD]",titin,gene with protein product,2q31.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24105469],188840,ENSG00000155657,2265,Q8WZ42,Q8WZ42,HGNC:12403 +GARD:0013661,Orphanet,324604,ORPHA:324604,3,SELENON,"[RSS, SELN]",selenoprotein N,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:12192640],606210,ENSG00000162430,,Q9NZV5,,HGNC:15999 +GARD:0013661,Orphanet,324604,ORPHA:324604,3,MYH7,[CMD1S],myosin heavy chain 7,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22784669],160760,ENSG00000092054,,P12883,P12883,HGNC:7577 +GARD:0013663,Orphanet,166282,ORPHA:166282,3,SCN5A,"[CDCD2, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, long QT syndrome 3]",sodium voltage-gated channel alpha subunit 5,gene with protein product,3p22.2,Disease-causing germline mutation(s) in,Assessed,,600163,ENSG00000183873,582,Q14524,Q14524,HGNC:10593 +GARD:0013663,Orphanet,166282,ORPHA:166282,3,HCN4,,hyperpolarization activated cyclic nucleotide gated potassium channel 4,gene with protein product,15q24.1,Disease-causing germline mutation(s) in,Assessed,,605206,ENSG00000138622,403,Q9Y3Q4,Q9Y3Q4,HGNC:16882 +GARD:0013663,Orphanet,166282,ORPHA:166282,3,MYH6,"[cardiomyopathy, hypertrophic 1]",myosin heavy chain 6,gene with protein product,14q11.2,Major susceptibility factor in,Assessed,,160710,ENSG00000197616,,P13533,P13533,HGNC:7576 +GARD:0013676,Orphanet+OMIM,615476,OMIM:615476,1,SZT2,"[FLJ10387, FLJ34502, KICS1, RP11-506B15.1, SZT2A, SZT2B, seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse)]",SZT2 subunit of KICSTOR complex,gene with protein product,1p34.2,The molecular basis of the disorder is known,Unknown,,615463,ENSG00000198198,,Q5T011,Q5T011,HGNC:29040 +GARD:0013686,Orphanet+OMIM,614254,OMIM:614254,1,GRIN1,[GluN1],glutamate ionotropic receptor NMDA type subunit 1,gene with protein product,9q34.3,The molecular basis of the disorder is known,Unknown,,138249,ENSG00000176884,objectId:455,Q05586,Q05586,HGNC:4584 +GARD:0013708,Orphanet,280558,ORPHA:280558,1,DDX11,"[CHL1, CHL1-like helicase homolog (S. cerevisiae), CHLR1, ChlR1, KRG-2, KRG2, Keratinocyte growth factor-regulated gene 2, WABS, Warsaw Breakage Syndrome]",DEAD/H-box helicase 11,gene with protein product,12p11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:20137776, PMID:23033317]",601150,ENSG00000013573,,Q96FC9,Q96FC9,HGNC:2736 +GARD:0013712,Orphanet,231154,ORPHA:231154,1,RAG1,"[MGC43321, RING finger protein 74, RNF74, V(D)J recombination-activating protein 1, recombination activating protein 1]",recombination activating 1,gene with protein product,11p12,Disease-causing germline mutation(s) in,Assessed,,179615,ENSG00000166349,,P15918,P15918,HGNC:9831 +GARD:0013737,Orphanet+OMIM,613744,OMIM:613744,1,AP4E1,"[AP-4-EPSILON, SPG51]",adaptor related protein complex 4 subunit epsilon 1,gene with protein product,15q21.2,The molecular basis of the disorder is known,Unknown,,607244,ENSG00000081014,,Q9UPM8,Q9UPM8,HGNC:573 +GARD:0013743,Orphanet+OMIM,259600,OMIM:259600,1,MMP2,[TBE-1],matrix metallopeptidase 2,gene with protein product,16q12.2,The molecular basis of the disorder is known,Unknown,,120360,ENSG00000087245,ligandId:4470,P08253,P08253,HGNC:7166 +GARD:0013774,Orphanet,468678,ORPHA:468678,1,POGZ,"[KIAA0461, ZNF280E, ZNF635, ZNF635m, putative protein product of Nbla00003, zinc finger protein 280E]",pogo transposable element derived with ZNF domain,gene with protein product,1q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26739615],614787,ENSG00000143442,,Q7Z3K3,Q7Z3K3,HGNC:18801 +GARD:0013781,Orphanet,250977,ORPHA:250977,1,ATIC,"[AICARFT, IMPCHASE, PURH, phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase]",5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:15114530],601731,ENSG00000138363,,P31939,P31939,HGNC:794 +GARD:0013809,Orphanet,227796,ORPHA:227796,3,PRPH2,"[CACD2, TSPAN22, rd2, retinal peripherin]",peripherin 2,gene with protein product,6p21.1,Candidate gene tested in,Not yet assessed,,179605,ENSG00000112619,,P23942,,HGNC:9942 +GARD:0013809,Orphanet,227796,ORPHA:227796,3,RLBP1,[CRALBP],retinaldehyde binding protein 1,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21447491],180090,ENSG00000140522,2545,P12271,P12271,HGNC:10024 +GARD:0013809,Orphanet,227796,ORPHA:227796,3,RDH5,"[HSD17B9, SDR9C5, short chain dehydrogenase/reductase family 9C, member 5]",retinol dehydrogenase 5,gene with protein product,12q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22736946, PMID:25820994]",601617,ENSG00000135437,,Q92781,Q92781,HGNC:9940 +GARD:0013811,Orphanet,420179,ORPHA:420179,1,NFIX,"[CCAAT-binding transcription factor, NF1A]",nuclear factor I X,gene with protein product,19p13.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:20673863, PMID:22301465, PMID:25118028]",164005,ENSG00000008441,,Q14938,Q14938,HGNC:7788 +GARD:0013818,Orphanet,506334,ORPHA:506334,1,SGPL1,[SPL],sphingosine-1-phosphate lyase 1,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:24777844, PMID:28181337, PMID:28218265]",603729,ENSG00000166224,2522,O95470,O95470,HGNC:10817 +GARD:0013824,Orphanet,324977,ORPHA:324977,1,PSMB8,"[D6S216E, PSMB5i, RING10, beta5i, proteasome subunit ß5i]",proteasome 20S subunit beta 8,gene with protein product,6p21.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:21129723, PMID:21852578, PMID:21953331]",177046,ENSG00000204264,2408,P28062,P28062,HGNC:9545 +GARD:0015000,Orphanet,99812,ORPHA:99812,2,LIG4,"[DNA joinase, DNA repair enzyme, polydeoxyribonucleotide synthase [ATP] 4, polynucleotide ligase, sealase]",DNA ligase 4,gene with protein product,13q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23372718],601837,ENSG00000174405,,P49917,P49917,HGNC:6601 +GARD:0015000,Orphanet,99812,ORPHA:99812,2,XRCC4,"[DNA repair protein XRCC4, X-ray repair, complementing defective, repair in Chinese hamster]",X-ray repair cross complementing 4,gene with protein product,5q14.2,Candidate gene tested in,Not yet assessed,[PMID:27169690],194363,ENSG00000152422,,Q13426,Q13426,HGNC:12831 +GARD:0015001,Orphanet,596753,ORPHA:596753,1,UBA1,"[CFAP124, POC20, POC20 centriolar protein homolog (Chlamydomonas), UBA1, ubiquitin-activating enzyme E1 homolog (yeast), UBE1X]",ubiquitin like modifier activating enzyme 1,gene with protein product,Xp11.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:33108101],314370,ENSG00000130985,,P22314,P22314,HGNC:12469 +GARD:0015003,Orphanet,566175,ORPHA:566175,1,CD55,"[CR, CROM, TC]",CD55 molecule (Cromer blood group),gene with protein product,1q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30565236],125240,ENSG00000196352,,P08174,,HGNC:2665 +GARD:0015004,Orphanet,306550,ORPHA:306550,1,FADD,"[Fas-associating death domain-containing protein, Fas-associating protein with death domain, GIG3, Growth-inhibiting gene 3 protein, MORT1, Mediator of receptor-induced toxicity, growth-inhibiting gene 3 protein, mediator of receptor-induced toxicity]",Fas associated via death domain,gene with protein product,11q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21109225],602457,ENSG00000168040,,Q13158,Q13158,HGNC:3573 +GARD:0015010,Orphanet,145,ORPHA:145,14,BARD1,,BRCA1 associated RING domain 1,gene with protein product,2q35,Candidate gene tested in,Not yet assessed,[PMID:15342711],601593,ENSG00000138376,,Q99728,Q99728,HGNC:952 +GARD:0015010,Orphanet,145,ORPHA:145,14,RAD51D,"[DNA repair protein RAD51 homolog 4, HsTRAD, R51H3, Recombination repair protein, Trad, recombination repair protein]",RAD51 paralog D,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:21822267],602954,ENSG00000185379,,O75771,O75771,HGNC:9823 +GARD:0015010,Orphanet,145,ORPHA:145,14,MRE11,"[AT-like disease, ATLD]","MRE11 homolog, double strand break repair nuclease",gene with protein product,11q21,Candidate gene tested in,Not yet assessed,"[PMID:14684699, PMID:22006311]",600814,ENSG00000020922,,P49959,P49959,HGNC:7230 +GARD:0015010,Orphanet,145,ORPHA:145,14,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Candidate gene tested in,Not yet assessed,"[PMID:23779253, PMID:24884479]",191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0015010,Orphanet,145,ORPHA:145,14,CHEK2,"[CDS1, CHK2, HuCds1, PP1425, bA444G7]",checkpoint kinase 2,gene with protein product,22q12.1,Candidate gene tested in,Not yet assessed,[PMID:21562711],604373,ENSG00000183765,1988,O96017,O96017,HGNC:16627 +GARD:0015010,Orphanet,145,ORPHA:145,14,NBN,"[AT-V1, AT-V2, ATV]",nibrin,gene with protein product,8q21.3,Candidate gene tested in,Not yet assessed,"[PMID:14684699, PMID:22006311]",602667,ENSG00000104320,,O60934,O60934,HGNC:7652 +GARD:0015010,Orphanet,145,ORPHA:145,14,BRCA1,"[BRCA1/BRCA2-containing complex, subunit 1, BRCC1, FANCS, Fanconi anemia, complementation group S, PPP1R53, RNF53, protein phosphatase 1, regulatory subunit 53]",BRCA1 DNA repair associated,gene with protein product,17q21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:16112002, PMID:20301425]",113705,ENSG00000012048,,P38398,P38398,HGNC:1100 +GARD:0015010,Orphanet,145,ORPHA:145,14,RAD51C,"[FANCO, RAD51L2]",RAD51 paralog C,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:20400964, PMID:21990120]",602774,ENSG00000108384,,O43502,O43502,HGNC:9820 +GARD:0015010,Orphanet,145,ORPHA:145,14,BRIP1,"[BACH1, BRCA1 interacting protein 1, BRCA1-associated C-terminal helicase, BRCA1/BRCA2-associated helicase 1, FANCJ, FANCJ helicase, OF]",BRCA1 interacting helicase 1,gene with protein product,17q23.2,Candidate gene tested in,Not yet assessed,[PMID:17033622],605882,ENSG00000136492,,Q9BX63,Q9BX63,HGNC:20473 +GARD:0015010,Orphanet,145,ORPHA:145,14,RAD51,"[BRCA1/BRCA2-containing complex, subunit 5, BRCC5, FANCR, HsRad51, HsT16930]",RAD51 recombinase,gene with protein product,15q15.1,Candidate gene tested in,Not yet assessed,"[PMID:10807537, PMID:24114315]",179617,ENSG00000051180,,Q06609,Q06609,HGNC:9817 +GARD:0015010,Orphanet,145,ORPHA:145,14,RAD50,"[RAD50-2, hRad50]",RAD50 double strand break repair protein,gene with protein product,5q31.1,Candidate gene tested in,Not yet assessed,"[PMID:14684699, PMID:22006311]",604040,ENSG00000113522,,Q92878,Q92878,HGNC:9816 +GARD:0015010,Orphanet,145,ORPHA:145,14,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Candidate gene tested in,Not yet assessed,[PMID:23779253],601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0015010,Orphanet,145,ORPHA:145,14,PALB2,"[FANCN, FLJ21816, Fanconi anemia, complementation group N]",partner and localizer of BRCA2,gene with protein product,16p12.2,Candidate gene tested in,Not yet assessed,[PMID:23779253],610355,ENSG00000083093,,Q86YC2,Q86YC2,HGNC:26144 +GARD:0015010,Orphanet,145,ORPHA:145,14,BRCA2,"[BRCA1/BRCA2-containing complex, subunit 2, BRCC2, FAD, FAD1, XRCC11]",BRCA2 DNA repair associated,gene with protein product,13q13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:16112002, PMID:20301425]",600185,ENSG00000139618,,P51587,P51587,HGNC:1101 +GARD:0015011,Orphanet+OMIM,300554,OMIM:300554,1,CLCN5,"[CLC5, ClC-5, DENTS, Dent disease, XLRH, XRN, hCIC-K2, hClC-K2]",chloride voltage-gated channel 5,gene with protein product,Xp11.23,The molecular basis of the disorder is known,Unknown,,300008,ENSG00000171365,objectId:704,P51795,P51795,HGNC:2023 +GARD:0015012,Orphanet,667,ORPHA:667,4,TCIRG1,"[ATP6N1C, ATP6V0A3, Atp6i, OC-116, OC116, T-cell immune response cDNA 7, TIRC7, V-ATPase subunit a3, a3]","T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",gene with protein product,11q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:15300850, PMID:20424301, PMID:21042819, PMID:23877423]",604592,ENSG00000110719,825,Q13488,Q13488,HGNC:11647 +GARD:0015012,Orphanet,667,ORPHA:667,4,TNFSF11,"[CD254, ODF, OPGL, RANKL, TRANCE]",TNF superfamily member 11,gene with protein product,13q14,Disease-causing germline mutation(s) in,Assessed,"[PMID:17632511, PMID:23877423]",602642,ENSG00000120659,,O14788,O14788,HGNC:11926 +GARD:0015012,Orphanet,667,ORPHA:667,4,CLCN7,"[CLC-7, CLC7, ClC-7, OPTA2, PPP1R63, protein phosphatase 1, regulatory subunit 63]",chloride voltage-gated channel 7,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301306, PMID:20424301, PMID:22419446, PMID:23877423]",602727,ENSG00000103249,706,P51798,P51798,HGNC:2025 +GARD:0015012,Orphanet,667,ORPHA:667,4,SNX10,,sorting nexin 10,gene with protein product,7p15.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22499339, PMID:23877423]",614780,ENSG00000086300,,Q9Y5X0,Q9Y5X0,HGNC:14974 +GARD:0015013,Orphanet,1522,ORPHA:1522,2,GJA1,"[CX43, ODD, ODOD, SDTY3, connexin 43, oculodentodigital dysplasia (syndactyly type III)]",gap junction protein alpha 1,gene with protein product,6q22.31,Disease-causing germline mutation(s) in,Assessed,[PMID:23951358],121014,ENSG00000152661,728,P17302,P17302,HGNC:4274 +GARD:0015013,Orphanet,1522,ORPHA:1522,2,ANKH,"[ANK, CPPDD, HANK, SLC62A1]",ANKH inorganic pyrophosphate transport regulator,gene with protein product,5p15.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:11326272, PMID:11326338, PMID:21438135]",605145,ENSG00000154122,3046,Q9HCJ1,Q9HCJ1,HGNC:15492 +GARD:0015014,Orphanet,2126,ORPHA:2126,2,NAB2,"[EGR1 binding protein 2, MADER]",NGFI-A binding protein 2,gene with protein product,12q13.3,Part of a fusion gene in,Assessed,"[PMID:23313952, PMID:23313954]",602381,ENSG00000166886,,Q15742,Q15742,HGNC:7627 +GARD:0015014,Orphanet,2126,ORPHA:2126,2,STAT6,"[D12S1644, IL-4-STAT]",signal transducer and activator of transcription 6,gene with protein product,12q13.3,Part of a fusion gene in,Assessed,"[PMID:23313952, PMID:23313954]",601512,ENSG00000166888,2993,P42226,P42226,HGNC:11368 +GARD:0015015,Orphanet,49382,ORPHA:49382,7,PDE6H,"[retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma]",phosphodiesterase 6H,gene with protein product,12p12.3,Disease-causing germline mutation(s) in,Assessed,,601190,ENSG00000139053,1317,Q13956,,HGNC:8790 +GARD:0015015,Orphanet,49382,ORPHA:49382,7,CNGA3,"[CCNC1, CCNCa, CNG3]",cyclic nucleotide gated channel subunit alpha 3,gene with protein product,2q11.2,Disease-causing germline mutation(s) in,Assessed,,600053,ENSG00000144191,396,Q16281,,HGNC:2150 +GARD:0015015,Orphanet,49382,ORPHA:49382,7,GNAT2,[ACHM4],G protein subunit alpha transducin 2,gene with protein product,1p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12077706],139340,ENSG00000134183,,P19087,P19087,HGNC:4394 +GARD:0015015,Orphanet,49382,ORPHA:49382,7,RPGR,[CORDX1],retinitis pigmentosa GTPase regulator,gene with protein product,Xp11.4,Candidate gene tested in,Not yet assessed,,312610,ENSG00000156313,,Q92834,Q92834,HGNC:10295 +GARD:0015015,Orphanet,49382,ORPHA:49382,7,PDE6C,"[ACHM5, COD4, Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha, PDEA2]",phosphodiesterase 6C,gene with protein product,10q23.33,Disease-causing germline mutation(s) in,Assessed,[PMID:19615668],600827,ENSG00000095464,1314,P51160,,HGNC:8787 +GARD:0015015,Orphanet,49382,ORPHA:49382,7,CNGB3,,cyclic nucleotide gated channel subunit beta 3,gene with protein product,8q21.3,Disease-causing germline mutation(s) in,Assessed,,605080,ENSG00000170289,399,Q9NQW8,,HGNC:2153 +GARD:0015015,Orphanet,49382,ORPHA:49382,7,ATF6,"[ATF6A, activating transcription factor 6 alpha]",activating transcription factor 6,gene with protein product,1q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26029869, PMID:26063662]",605537,ENSG00000118217,,P18850,P18850,HGNC:791 +GARD:0015016,Orphanet,50942,ORPHA:50942,3,DSP,"[DPI, DPII, KPPS2, PPKS2]",desmoplakin,gene with protein product,6p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:9887343],125647,ENSG00000096696,,P15924,P15924,HGNC:3052 +GARD:0015016,Orphanet,50942,ORPHA:50942,3,DSG1,[CDHF4],desmoglein 1,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:10332028, PMID:19157795]",125670,ENSG00000134760,,Q02413,Q02413,HGNC:3048 +GARD:0015016,Orphanet,50942,ORPHA:50942,3,KRT1,[KRT1A],keratin 1,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:11982762],139350,ENSG00000167768,,P04264,P04264,HGNC:6412 +GARD:0015017,Orphanet,77258,ORPHA:77258,1,TRPS1,"[GC79, LGCR]",transcriptional repressor GATA binding 1,gene with protein product,8q23.3,Disease-causing germline mutation(s) in,Assessed,,604386,ENSG00000104447,,Q9UHF7,,HGNC:12340 +GARD:0015019,Orphanet,84090,ORPHA:84090,1,FN1,"[CIG, Cold-insoluble globulin, FINC, GFND2, LETS, MSF, Migration-stimulating factor, cold-insoluble globulin, migration-stimulating factor]",fibronectin 1,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:18268355],135600,ENSG00000115414,,P02751,P02751,HGNC:3778 +GARD:0015020,Orphanet,90695,ORPHA:90695,2,PROP1,,PROP paired-like homeobox 1,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,,601538,ENSG00000175325,,O75360,O75360,HGNC:9455 +GARD:0015020,Orphanet,90695,ORPHA:90695,2,SOX3,,SRY-box transcription factor 3,gene with protein product,Xq27.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:15800844],313430,ENSG00000134595,,P41225,P41225,HGNC:11199 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,DOK7,"[Dok-7, FLJ33718, FLJ39137]",docking protein 7,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301347],610285,ENSG00000175920,,Q18PE1,Q18PE1,HGNC:26594 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,COL13A1,,collagen type XIII alpha 1 chain,gene with protein product,10q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26626625],120350,ENSG00000197467,,Q5TAT6,Q5TAT6,HGNC:2190 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,AGRN,[AGRIN],agrin,gene with protein product,1p36.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:19631309, PMID:20301347, PMID:22205389]",103320,ENSG00000188157,,O00468,O00468,HGNC:329 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,LRP4,"[CLSS, LRP-4, MEGF7, SOST2]",LDL receptor related protein 4,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24234652],604270,ENSG00000134569,,O75096,O75096,HGNC:6696 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,SCN4A,"[HYPP, Nav1.4, SkM1]",sodium voltage-gated channel alpha subunit 4,gene with protein product,17q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301347],603967,ENSG00000007314,581,P35499,P35499,HGNC:10591 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,CHRNB1,"[acetylcholine receptor, nicotinic, beta 1 (muscle)]",cholinergic receptor nicotinic beta 1 subunit,gene with protein product,17p13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301347],100710,ENSG00000170175,471,P11230,,HGNC:1961 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,CHRNB1,"[acetylcholine receptor, nicotinic, beta 1 (muscle)]",cholinergic receptor nicotinic beta 1 subunit,gene with protein product,17p13.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301347],100710,ENSG00000170175,471,P11230,,HGNC:1961 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,RAPSN,"[CMS1D, CMS1E, RNF205, rapsyn]",receptor associated protein of the synapse,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301347],601592,ENSG00000165917,,Q13702,,HGNC:9863 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,MUSK,,muscle associated receptor tyrosine kinase,gene with protein product,9q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301347],601296,ENSG00000030304,1847,O15146,O15146,HGNC:7525 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,CHRND,"[acetylcholine receptor, nicotinic, delta (muscle)]",cholinergic receptor nicotinic delta subunit,gene with protein product,2q37.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301347],100720,ENSG00000135902,476,Q07001,Q07001,HGNC:1965 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,CHRND,"[acetylcholine receptor, nicotinic, delta (muscle)]",cholinergic receptor nicotinic delta subunit,gene with protein product,2q37.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301347],100720,ENSG00000135902,476,Q07001,Q07001,HGNC:1965 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,AK9,"[FLJ25791, FLJ42177, MGC26954, dJ70A9.1]",adenylate kinase 9,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,[PMID:27966543],615358,ENSG00000155085,,Q5TCS8,R-HSA-6788784,HGNC:33814 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,CHRNE,"[ACHRE, acetylcholine receptor, nicotinic, epsilon (muscle)]",cholinergic receptor nicotinic epsilon subunit,gene with protein product,17p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301347],100725,ENSG00000108556,477,Q04844,Q04844,HGNC:1966 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,CHRNE,"[ACHRE, acetylcholine receptor, nicotinic, epsilon (muscle)]",cholinergic receptor nicotinic epsilon subunit,gene with protein product,17p13.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301347],100725,ENSG00000108556,477,Q04844,Q04844,HGNC:1966 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,CHRNA1,"[acetylcholine receptor, nicotinic, alpha 1 (muscle)]",cholinergic receptor nicotinic alpha 1 subunit,gene with protein product,2q31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301347],100690,ENSG00000138435,462,P02708,P02708,HGNC:1955 +GARD:0015022,Orphanet,98913,ORPHA:98913,12,CHRNA1,"[acetylcholine receptor, nicotinic, alpha 1 (muscle)]",cholinergic receptor nicotinic alpha 1 subunit,gene with protein product,2q31.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301347],100690,ENSG00000138435,462,P02708,P02708,HGNC:1955 +GARD:0015023,Orphanet,98914,ORPHA:98914,10,SLC18A3,[VACHT],solute carrier family 18 member A3,gene with protein product,10q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:27590285],600336,ENSG00000187714,1013,Q16572,Q16572,HGNC:10936 +GARD:0015023,Orphanet,98914,ORPHA:98914,10,SNAP25,"[RIC-4, RIC4, SEC9, SNAP-25, bA416N4.2, dJ1068F16.2, resistance to inhibitors of cholinesterase 4 homolog]",synaptosome associated protein 25,gene with protein product,20p12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:25381298, PMID:25792100]",600322,ENSG00000132639,,P60880,P60880,HGNC:11132 +GARD:0015023,Orphanet,98914,ORPHA:98914,10,COL13A1,,collagen type XIII alpha 1 chain,gene with protein product,10q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26626625],120350,ENSG00000197467,,Q5TAT6,Q5TAT6,HGNC:2190 +GARD:0015023,Orphanet,98914,ORPHA:98914,10,AGRN,[AGRIN],agrin,gene with protein product,1p36.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:19631309, PMID:20301347, PMID:22205389]",103320,ENSG00000188157,,O00468,O00468,HGNC:329 +GARD:0015023,Orphanet,98914,ORPHA:98914,10,SLC25A1,[CTP],solute carrier family 25 member 1,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,,190315,ENSG00000100075,1051,P53007,P53007,HGNC:10979 +GARD:0015023,Orphanet,98914,ORPHA:98914,10,SYT2,,synaptotagmin 2,gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25192047],600104,ENSG00000143858,,Q8N9I0,Q8N9I0,HGNC:11510 +GARD:0015023,Orphanet,98914,ORPHA:98914,10,VAMP1,[VAMP-1],vesicle associated membrane protein 1,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:28253535],185880,ENSG00000139190,,P23763,P23763,HGNC:12642 +GARD:0015023,Orphanet,98914,ORPHA:98914,10,MYO9A,"[FLJ11061, FLJ13244, MGC71859]",myosin IXA,gene with protein product,15q23,Disease-causing germline mutation(s) in,Assessed,[PMID:27259756],604875,ENSG00000066933,,B2RTY4,B2RTY4,HGNC:7608 +GARD:0015023,Orphanet,98914,ORPHA:98914,10,SLC5A7,"[CHT1, hCHT]",solute carrier family 5 member 7,gene with protein product,2q12.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:27569547],608761,ENSG00000115665,914,Q9GZV3,Q9GZV3,HGNC:14025 +GARD:0015023,Orphanet,98914,ORPHA:98914,10,CHAT,,choline O-acetyltransferase,gene with protein product,10q11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301347],118490,ENSG00000070748,2480,P28329,P28329,HGNC:1912 +GARD:0015024,Orphanet,166002,ORPHA:166002,3,COL9A3,"[DJ885L7.4.1, EDM3, FLJ90759, IDD, MED, collagen type IX proteoglycan]",collagen type IX alpha 3 chain,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20301302],120270,ENSG00000092758,,Q14050,Q14050,HGNC:2219 +GARD:0015024,Orphanet,166002,ORPHA:166002,3,COL9A2,[MED],collagen type IX alpha 2 chain,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301302],120260,ENSG00000049089,,Q14055,Q14055,HGNC:2218 +GARD:0015024,Orphanet,166002,ORPHA:166002,3,COL9A1,,collagen type IX alpha 1 chain,gene with protein product,6q13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301302],120210,ENSG00000112280,,P20849,P20849,HGNC:2217 +GARD:0015025,Orphanet,169147,ORPHA:169147,8,C1R,,complement C1r,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:22773339],613785,ENSG00000159403,2334,P00736,P00736,HGNC:1246 +GARD:0015025,Orphanet,169147,ORPHA:169147,8,C4B,"[C4B1, C4B3, C4F, CH, CO4, CPAMD3]",complement C4B (Chido blood group),gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,,120820,ENSG00000224389,,P0C0L5,P0C0L5,HGNC:1324 +GARD:0015025,Orphanet,169147,ORPHA:169147,8,C4A,"[C4, C4A2, C4A3, C4A4, C4A6, C4B, C4S, CO4, CPAMD2, RG]",complement C4A (Rodgers blood group),gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,,120810,ENSG00000244731,,P0C0L4,P0C0L4,HGNC:1323 +GARD:0015025,Orphanet,169147,ORPHA:169147,8,C2,,complement C2,gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,,613927,ENSG00000166278,,P06681,P06681,HGNC:1248 +GARD:0015025,Orphanet,169147,ORPHA:169147,8,C1S,,complement C1s,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,,120580,ENSG00000182326,2335,P09871,P09871,HGNC:1247 +GARD:0015025,Orphanet,169147,ORPHA:169147,8,C1QC,,complement C1q C chain,gene with protein product,1p36.12,Disease-causing germline mutation(s) in,Assessed,,120575,ENSG00000159189,,P02747,P02747,HGNC:1245 +GARD:0015025,Orphanet,169147,ORPHA:169147,8,C1QB,,complement C1q B chain,gene with protein product,1p36.12,Disease-causing germline mutation(s) in,Assessed,,120570,ENSG00000173369,,P02746,P02746,HGNC:1242 +GARD:0015025,Orphanet,169147,ORPHA:169147,8,C1QA,,complement C1q A chain,gene with protein product,1p36.12,Disease-causing germline mutation(s) in,Assessed,,120550,ENSG00000173372,,P02745,P02745,HGNC:1241 +GARD:0015026,Orphanet,183678,ORPHA:183678,1,AP3B1,"[ADTB3A, HPS2, beta-3A]",adaptor related protein complex 3 subunit beta 1,gene with protein product,5q14.1,Disease-causing germline mutation(s) in,Assessed,,603401,ENSG00000132842,,O00203,O00203,HGNC:566 +GARD:0015027,Orphanet,199241,ORPHA:199241,1,EIF2AK4,"[GCN2, KIAA1338]",eukaryotic translation initiation factor 2 alpha kinase 4,gene with protein product,15q15.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24135949],609280,ENSG00000128829,2018,Q9P2K8,,HGNC:19687 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,TRAK1,"[KIAA1042, MILT1, O-linked N-acetylglucosamine transferase interacting protein 106, OGT(O Glc NAc transferase) interacting protein 106 KDa, OIP106, milton homolog 1 (Drosophila)]",trafficking kinesin protein 1,gene with protein product,3p22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28364549],608112,ENSG00000182606,,Q9UPV9,Q9UPV9,HGNC:29947 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,CACNA1B,"[CACNN, Cav2.2]",calcium voltage-gated channel subunit alpha1 B,gene with protein product,9q34.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30982612],601012,ENSG00000148408,533,Q00975,Q00975,HGNC:1389 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,SLC13A5,"[INDY, NACT]",solute carrier family 13 member 5,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24995870],608305,ENSG00000141485,981,Q86YT5,Q86YT5,HGNC:23089 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,UBA5,"[FLJ23251, UBA5, ubiquitin-activating enzyme E1 homolog (yeast)]",ubiquitin like modifier activating enzyme 5,gene with protein product,3q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:27545674, PMID:27545681]",610552,ENSG00000081307,,Q9GZZ9,Q9GZZ9,HGNC:23230 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,AARS1,"[AlaRS, CMT2N, alanine tRNA ligase 1, cytoplasmic]",alanyl-tRNA synthetase 1,gene with protein product,16q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25817015],601065,ENSG00000090861,,P49588,P49588,HGNC:20 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,AP3B2,[NAPTB],adaptor related protein complex 3 subunit beta 2,gene with protein product,15q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27889060],602166,ENSG00000103723,,Q13367,,HGNC:567 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,SYNGAP1,"[KIAA1938, RASA5, SYNGAP]",synaptic Ras GTPase activating protein 1,gene with protein product,6p21.32,Candidate gene tested in,Not yet assessed,[PMID:23708187],603384,ENSG00000197283,,Q96PV0,Q96PV0,HGNC:11497 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,SLC1A2,"[EAAT2, GLT-1]",solute carrier family 1 member 2,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:27476654, PMID:28777935]",600300,ENSG00000110436,869,P43004,P43004,HGNC:10940 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,FGF12,"[FHF1, fibroblast growth factor 12B, fibroblast growth factor FGF-12b, fibroblast growth factor homologous factor 1, myocyte-activating factor]",fibroblast growth factor 12,gene with protein product,3q28-q29,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:27164707],601513,ENSG00000114279,,P61328,P61328,HGNC:3668 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,CELF2,"[BRUNOL3, Etr-3, NAPOR-2]",CUGBP Elav-like family member 2,gene with protein product,10p14,Disease-causing germline mutation(s) in,Assessed,[PMID:33131106],602538,ENSG00000048740,,O95319,,HGNC:2550 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,PARS2,"[DKFZp727A071, proline tRNA ligase 2, mitochondrial (putative)]","prolyl-tRNA synthetase 2, mitochondrial",gene with protein product,1p32.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29915213],612036,ENSG00000162396,,Q7L3T8,Q7L3T8,HGNC:30563 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,ATP6V1A,"[V-ATPase subunit A, V-type proton ATPase (V-ATPase) catalytic subunit A, VA68, Vma1]",ATPase H+ transporting V1 subunit A,gene with protein product,3q13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:29668857],607027,ENSG00000114573,810,P38606,P38606,HGNC:851 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,KCNB1,[Kv2.1],potassium voltage-gated channel subfamily B member 1,gene with protein product,20q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:25164438],600397,ENSG00000158445,546,Q14721,Q14721,HGNC:6231 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,DALRD3,[FLJ10496],DALR anticodon binding domain containing 3,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:32427860],618904,ENSG00000178149,,Q5D0E6,Q5D0E6,HGNC:25536 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,CDK19,"[KIAA1028, bA346C16.3]",cyclin dependent kinase 19,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,[PMID:32330417],614720,ENSG00000155111,1972,Q9BWU1,Q9BWU1,HGNC:19338 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,EEF1A2,"[EEF1AL, HS1]",eukaryotic translation elongation factor 1 alpha 2,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23647072],602959,ENSG00000101210,,Q05639,Q05639,HGNC:3192 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,CACNA1A,"[APCA, Cav2.1, EA2, FHM, HPCA]",calcium voltage-gated channel subunit alpha1 A,gene with protein product,19p13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:27476654],601011,ENSG00000141837,532,O00555,O00555,HGNC:1388 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,NUS1,"[MGC7199, NgBR, Nogo-B receptor, TANGO14, transport and golgi organization 14 homolog (Drosophila)]",NUS1 dehydrodolichyl diphosphate synthase subunit,gene with protein product,6q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29100083],610463,ENSG00000153989,,Q96E22,Q96E22,HGNC:21042 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,GABRB2,"[GABA(A) receptor, beta 2]",gamma-aminobutyric acid type A receptor subunit beta2,gene with protein product,5q34,Disease-causing germline mutation(s) in,Assessed,[PMID:29100083],600232,ENSG00000145864,411,P47870,P47870,HGNC:4082 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,CLTC,[Hc],clathrin heavy chain,gene with protein product,17q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29100083],118955,ENSG00000141367,,Q00610,Q00610,HGNC:2092 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,ACTL6B,"[BAF53B, SMARCN2]",actin like 6B,gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:31031012],612458,ENSG00000077080,,O94805,O94805,HGNC:160 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,PPP3CA,"[CNA1, PPP2B, calcineurin A alpha, protein phosphatase 2B, catalytic subunit, alpha isoform]",protein phosphatase 3 catalytic subunit alpha,gene with protein product,4q24,Disease-causing germline mutation(s) in,Assessed,[PMID:28942967],114105,ENSG00000138814,,Q08209,Q08209,HGNC:9314 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,DNM1,,dynamin 1,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:25262651, PMID:25533962]",602377,ENSG00000106976,,Q05193,Q05193,HGNC:2972 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,KCNA2,"[HK4, Kv1.2]",potassium voltage-gated channel subfamily A member 2,gene with protein product,1p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25751627],176262,ENSG00000177301,539,P16389,P16389,HGNC:6220 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,KCNA2,"[HK4, Kv1.2]",potassium voltage-gated channel subfamily A member 2,gene with protein product,1p13.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25751627],176262,ENSG00000177301,539,P16389,P16389,HGNC:6220 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,GABRA5,"[GABA(A) receptor, alpha 5]",gamma-aminobutyric acid type A receptor subunit alpha5,gene with protein product,15q12,Disease-causing germline mutation(s) in,Assessed,[PMID:31056671],137142,ENSG00000186297,408,P31644,P31644,HGNC:4079 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,CNKSR2,"[CNK2, KIAA0902, KSR2]",connector enhancer of kinase suppressor of Ras 2,gene with protein product,Xp22.12,Disease-causing germline mutation(s) in,Assessed,[PMID:25223753],300724,ENSG00000149970,,Q8WXI2,Q8WXI2,HGNC:19701 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,ATP1A3,"[sodium pump subunit alpha-3, sodium-potassium ATPase catalytic subunit alpha-3, sodium/potassium-transporting ATPase subunit alpha-3]",ATPase Na+/K+ transporting subunit alpha 3,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:33880529],182350,ENSG00000105409,835,P13637,P13637,HGNC:801 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,ATP1A2,"[FHM2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2, sodium/potassium-transporting ATPase subunit alpha-2]",ATPase Na+/K+ transporting subunit alpha 2,gene with protein product,1q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:33880529],182340,ENSG00000018625,834,P50993,P50993,HGNC:800 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,NTRK2,"[BDNF/NT-3 growth factors receptor, TRKB]",neurotrophic receptor tyrosine kinase 2,gene with protein product,9q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:29100083],600456,ENSG00000148053,1818,Q16620,Q16620,HGNC:8032 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,GABRG2,"[GABA(A) receptor, gamma 2]",gamma-aminobutyric acid type A receptor subunit gamma2,gene with protein product,5q34,Disease-causing germline mutation(s) in,Assessed,[PMID:27864268],137164,ENSG00000113327,414,P18507,P18507,HGNC:4087 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,FGF13,"[FGF2, FHF2, FLJ30672, fibroblast growth factor homologous factor 2]",fibroblast growth factor 13,gene with protein product,Xq26.3-q27.1,Disease-causing germline mutation(s) in,Assessed,[PMID:33245860],300070,ENSG00000129682,,Q92913,,HGNC:3670 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,GABRA2,"[GABA(A) receptor, alpha 2]",gamma-aminobutyric acid type A receptor subunit alpha2,gene with protein product,4p12,Disease-causing germline mutation(s) in,Assessed,[PMID:31032849],137140,ENSG00000151834,405,P47869,P47869,HGNC:4076 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,CYFIP2,"[PIR121, p53 inducible protein]",cytoplasmic FMR1 interacting protein 2,gene with protein product,5q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29534297],606323,ENSG00000055163,,Q96F07,Q96F07,HGNC:13760 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,NECAP1,"[DKFZP566B183, adaptin-ear-binding coat-associated protein 1]",NECAP endocytosis associated 1,gene with protein product,12p13.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24399846],611623,ENSG00000089818,,Q8NC96,Q8NC96,HGNC:24539 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,GRIN2D,"[EB11, GluN2D, N-methyl-d-aspartate receptor subunit 2D, NR2D]",glutamate ionotropic receptor NMDA type subunit 2D,gene with protein product,19q13.33,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:27616483],602717,ENSG00000105464,459,O15399,O15399,HGNC:4588 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,DHDDS,"[DS, FLJ13102, HDS, RP59, hCIT]",dehydrodolichyl diphosphate synthase subunit,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:29100083],608172,ENSG00000117682,,Q86SQ9,Q86SQ9,HGNC:20603 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,SZT2,"[FLJ10387, FLJ34502, KICS1, RP11-506B15.1, SZT2A, SZT2B, seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse)]",SZT2 subunit of KICSTOR complex,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23932106],615463,ENSG00000198198,,Q5T011,,HGNC:29040 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,WWOX,"[FOR, SDR41C1, WOX1, short chain dehydrogenase/reductase family 41C, member 1]",WW domain containing oxidoreductase,gene with protein product,16q23.1-q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25411445],605131,ENSG00000186153,,Q9NZC7,Q9NZC7,HGNC:12799 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,HCN1,"[BCNG-1, HAC-2]",hyperpolarization activated cyclic nucleotide gated potassium channel 1,gene with protein product,5p12,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:24747641, PMID:25678871]",602780,ENSG00000164588,400,O60741,O60741,HGNC:4845 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,YWHAG,"[14-3-3 gamma, 14-3-3?, 14-3-3GAMMA, PPP1R170, protein phosphatase 1, regulatory subunit 170]",tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma,gene with protein product,7q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:28777935],605356,ENSG00000170027,,P61981,P61981,HGNC:12852 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,SYNJ1,"[INPP5G, PARK20, inositol polyphosphate-5-phosphatase G, phosphoinositide 5-phosphatase, synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1]",synaptojanin 1,gene with protein product,21q22.11,Disease-causing germline mutation(s) in,Assessed,[PMID:27435091],604297,ENSG00000159082,1461,O43426,O43426,HGNC:11503 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,ARV1,,"ARV1 homolog, fatty acid homeostasis modulator",gene with protein product,1q42.2,Candidate gene tested in,Assessed,[PMID:27270415],611647,ENSG00000173409,,Q9H2C2,Q9H2C2,HGNC:29561 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,SCN3A,[Nav1.3],sodium voltage-gated channel alpha subunit 3,gene with protein product,2q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29466837],182391,ENSG00000153253,580,Q9NY46,Q9NY46,HGNC:10590 +GARD:0015028,Orphanet,442835,ORPHA:442835,44,SCN8A,"[CIAT, CerIII, NaCh6, Nav1.6, PN4]",sodium voltage-gated channel alpha subunit 8,gene with protein product,12q13.13,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:22365152, PMID:23708187]",600702,ENSG00000196876,583,Q9UQD0,Q9UQD0,HGNC:10596 +GARD:0015030,Orphanet+OMIM,101800,OMIM:101800,1,PRKAR1A,"[CNC1, Carney complex type 1]",protein kinase cAMP-dependent type I regulatory subunit alpha,gene with protein product,17q24.2,The molecular basis of the disorder is known,Unknown,,188830,ENSG00000108946,objectId:1472,P10644,P10644,HGNC:9388 +GARD:0015032,Orphanet+OMIM,102530,OMIM:102530,1,SPATA16,[NYD-SP12],spermatogenesis associated 16,gene with protein product,3q26.31,The molecular basis of the disorder is known,Unknown,,609856,ENSG00000144962,,Q9BXB7,,HGNC:29935 +GARD:0015035,Orphanet+OMIM,104000,OMIM:104000,1,AA1,,Alopecia areata 1,unknown,18p11.3-p11.2,The disease phenotype itself was mapped,Unknown,,104000,,,,,GeneID:100034700 +GARD:0015036,Orphanet+OMIM,104290,OMIM:104290,1,ATP1A2,"[FHM2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2, sodium/potassium-transporting ATPase subunit alpha-2]",ATPase Na+/K+ transporting subunit alpha 2,gene with protein product,1q23.2,The molecular basis of the disorder is known,Unknown,,182340,ENSG00000018625,objectId:834,P50993,P50993,HGNC:800 +GARD:0015037,Orphanet+OMIM,104500,OMIM:104500,1,ENAM,,enamelin,gene with protein product,4q13.3,The molecular basis of the disorder is known,Unknown,,606585,ENSG00000132464,,Q9NRM1,Q9NRM1,HGNC:3344 +GARD:0015038,Orphanet+OMIM,104530,OMIM:104530,1,LAMB3,"[BM600-125kDa, kalinin-140kDa, nicein-125kDa]",laminin subunit beta 3,gene with protein product,1q32.2,The molecular basis of the disorder is known,Unknown,,150310,ENSG00000196878,,Q13751,Q13751,HGNC:6490 +GARD:0015039,Orphanet+OMIM,105650,OMIM:105650,1,RPS19,"[DBA, Diamond-Blackfan anemia, S19, eS19]",ribosomal protein S19,gene with protein product,19q13.2,The molecular basis of the disorder is known,Unknown,,603474,ENSG00000105372,ligandId:3728,P39019,P39019,HGNC:10402 +GARD:0015041,Orphanet+OMIM,108420,OMIM:108420,1,MSH4,,mutS homolog 4,gene with protein product,1p31.1,The molecular basis of the disorder is known,Unknown,,602105,ENSG00000057468,,O15457,O15457,HGNC:7327 +GARD:0015042,Orphanet+OMIM,109543,OMIM:109543,1,CLLS2,"[D13S25, DBM]","Leukemia, chronic lymphocytic, susceptibility to, 2",unknown,13q14,The disease phenotype itself was mapped,Unknown,,109543,,,,,GeneID:8101 +GARD:0015043,Orphanet+OMIM,109720,OMIM:109720,1,PBC1,,"Biliary cirrhosis, primary, 1",,3q25.33,The disease phenotype itself was mapped,Unknown,,109720,,,,,OMIM:109720 +GARD:0015046,Orphanet+OMIM,115660,OMIM:115660,1,CCA1,[CTRCT7],Cataract 7,unknown,17q24,The disease phenotype itself was mapped,Unknown,,115660,,,,,GeneID:878 +GARD:0015047,Orphanet+OMIM,116200,OMIM:116200,1,GJA8,"[CX50, connexin 50]",gap junction protein alpha 8,gene with protein product,1q21.2,The molecular basis of the disorder is known,Unknown,,600897,ENSG00000121634,objectId:732,P48165,P48165,HGNC:4281 +GARD:0015048,Orphanet+OMIM,117550,OMIM:117550,1,NSD1,"[ARA267, FLJ22263, KMT3B]",nuclear receptor binding SET domain protein 1,gene with protein product,5q35.3,The molecular basis of the disorder is known,Unknown,,606681,ENSG00000165671,objectId:2696,Q96L73,Q96L73,HGNC:14234 +GARD:0015049,Orphanet+OMIM,118100,OMIM:118100,1,GDF6,"[BMP13, KFS, KFS1]",growth differentiation factor 6,gene with protein product,8q22.1,The molecular basis of the disorder is known,Unknown,,601147,ENSG00000156466,ligandId:4878,Q6KF10,,HGNC:4221 +GARD:0015050,Orphanet+OMIM,119100,OMIM:119100,1,SHFL1,[SHFLD],Split-hand/foot malformation with long bone deficiency 1,unknown,1q42.2-q43,The disease phenotype itself was mapped,Unknown,,119100,,,,,GeneID:791121 +GARD:0015051,Orphanet+OMIM,120100,OMIM:120100,1,NLRP3,"[AGTAVPRL, AII, AVP, CLR1.1, Cryopyrin, FCAS, FCU, MWS, NALP3, PYPAF1, leucine rich repeat and pyrin domain containing 3, nucleotide-binding oligomerization domain]",NLR family pyrin domain containing 3,gene with protein product,1q44,The molecular basis of the disorder is known,Unknown,,606416,ENSG00000162711,objectId:1770,Q96P20,Q96P20,HGNC:16400 +GARD:0015052,Orphanet+OMIM,120435,OMIM:120435,1,MSH2,"[DNA mismatch repair protein Msh2, HNPCC, HNPCC1, MSH-2]",mutS homolog 2,gene with protein product,2p21-p16.3,The molecular basis of the disorder is known,Unknown,,609309,ENSG00000095002,,P43246,P43246,HGNC:7325 +GARD:0015053,Orphanet+OMIM,120502,OMIM:120502,1,BOS2,,Branchiootic syndrome 2,unknown,1q31,The disease phenotype itself was mapped,Unknown,,120502,,,,,GeneID:64585 +GARD:0015054,Orphanet+OMIM,121201,OMIM:121201,1,KCNQ3,[Kv7.3],potassium voltage-gated channel subfamily Q member 3,gene with protein product,8q24.22,The molecular basis of the disorder is known,Unknown,,602232,ENSG00000184156,objectId:562,O43525,O43525,HGNC:6297 +GARD:0015055,Orphanet+OMIM,123700,OMIM:123700,1,ELN,"[SVAS, WBS, WS, Williams-Beuren syndrome, supravalvular aortic stenosis, tropoelastin]",elastin,gene with protein product,7q11.23,The molecular basis of the disorder is known,Unknown,,130160,ENSG00000049540,,P15502,P15502,HGNC:3327 +GARD:0015056,Orphanet+OMIM,124000,OMIM:124000,1,BCS1L,"[BCS, BJS, Bjornstad syndrome, GRACILE syndrome, Hs.6719, h-BCS]","BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone",gene with protein product,2q35,The molecular basis of the disorder is known,Unknown,,603647,ENSG00000074582,,Q9Y276,Q9Y276,HGNC:1020 +GARD:0015057,Orphanet+OMIM,125250,OMIM:125250,1,OPA1,"[Dynamin-like 120 kDa protein, FLJ12460, KIAA0567, MGM1, NPG, NTG, dynamin-like guanosine triphosphatase, mitochondrial, mitochondrial dynamin-like GTPase]",OPA1 mitochondrial dynamin like GTPase,gene with protein product,3q29,The molecular basis of the disorder is known,Unknown,,605290,ENSG00000198836,,O60313,O60313,HGNC:8140 +GARD:0015058,Orphanet+OMIM,125800,OMIM:125800,1,AQP2,,aquaporin 2,gene with protein product,12q13.12,The molecular basis of the disorder is known,Unknown,,107777,ENSG00000167580,objectId:689,P41181,P41181,HGNC:634 +GARD:0015060,Orphanet+OMIM,126700,OMIM:126700,1,CFH,"[ARMD4, ARMS1, FHL1, H factor 2 (complement), HUS, age-related maculopathy susceptibility 1, beta-1H]",complement factor H,gene with protein product,1q31.3,The molecular basis of the disorder is known,Unknown,,134370,ENSG00000000971,,P08603,P08603,HGNC:4883 +GARD:0015061,Orphanet+OMIM,128100,OMIM:128100,1,TOR1A,"[DQ2, torsin A, torsin-1A, torsinA]",torsin family 1 member A,gene with protein product,9q34.11,The molecular basis of the disorder is known,Unknown,,605204,ENSG00000136827,,O14656,O14656,HGNC:3098 +GARD:0015062,Orphanet+OMIM,129600,OMIM:129600,1,FBN1,"[MASS, Marfan syndrome, OCTD, SGS, asprosin]",fibrillin 1,gene with protein product,15q21.1,The molecular basis of the disorder is known,Unknown,,134797,ENSG00000166147,ligandId:9200,P35555,P35555,HGNC:3603 +GARD:0015063,Orphanet+OMIM,129900,OMIM:129900,1,EEC1,,"Ectrodactyly, ectodermal dysplasia, cleft lip/palate, 1",unknown,7q11.2-q21.3,The disease phenotype itself was mapped,Unknown,,129900,,,,,GeneID:1913 +GARD:0015064,Orphanet+OMIM,130600,OMIM:130600,1,SPTA1,"[EL2, elliptocytosis 2]","spectrin alpha, erythrocytic 1",gene with protein product,1q23.1,The molecular basis of the disorder is known,Unknown,,182860,ENSG00000163554,,P02549,P02549,HGNC:11272 +GARD:0015065,Orphanet+OMIM,132100,OMIM:132100,1,PPR1,,Photoparoxysmal response 1,unknown,6p21.1,The disease phenotype itself was mapped,Unknown,,132100,,,,,GeneID:100528023 +GARD:0015066,Orphanet+OMIM,133180,OMIM:133180,1,ERBB3,"[HER3, human epidermal growth factor receptor 3]",erb-b2 receptor tyrosine kinase 3,gene with protein product,12q13.2,The molecular basis of the disorder is known,Unknown,,190151,ENSG00000065361,objectId:1798,P21860,P21860,HGNC:3431 +GARD:0015067,Orphanet+OMIM,133540,OMIM:133540,1,ERCC6,"[ARMD5, CSB, Cockayne syndrome B protein, RAD26]","ERCC excision repair 6, chromatin remodeling factor",gene with protein product,10q11.23,The molecular basis of the disorder is known,Unknown,,609413,ENSG00000225830,,"P0DP91, Q03468",,HGNC:3438 +GARD:0015068,Orphanet+OMIM,133780,OMIM:133780,1,FZD4,[CD344],frizzled class receptor 4,gene with protein product,11q14.2,The molecular basis of the disorder is known,Unknown,,604579,ENSG00000174804,objectId:232,Q9ULV1,Q9ULV1,HGNC:4042 +GARD:0015069,Orphanet+OMIM,134610,OMIM:134610,1,MEFV,"[FMF, TRIM20, marenostrin]","MEFV innate immunity regulator, pyrin",gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,608107,ENSG00000103313,,O15553,O15553,HGNC:6998 +GARD:0015070,Orphanet+OMIM,135290,OMIM:135290,1,APC,"[DP2, DP2.5, DP3, PPP1R46, protein phosphatase 1, regulatory subunit 46]",APC regulator of WNT signaling pathway,gene with protein product,5q22.2,The molecular basis of the disorder is known,Unknown,,611731,ENSG00000134982,,P25054,P25054,HGNC:583 +GARD:0015071,Orphanet+OMIM,135500,OMIM:135500,1,KCNH1,"[Kv10.1, eag, eag1, ether-a-go-go 1, h-eag, hEAG]",potassium voltage-gated channel subfamily H member 1,gene with protein product,1q32.2,The molecular basis of the disorder is known,Unknown,,603305,ENSG00000143473,objectId:570,O95259,O95259,HGNC:6250 +GARD:0015072,Orphanet+OMIM,135900,OMIM:135900,1,ARID1B,"[6A3-5, BAF250b, DAN15, ELD/OSA1, KIAA1235, SMARCF2, p250R]",AT-rich interaction domain 1B,gene with protein product,6q25.3,The molecular basis of the disorder is known,Unknown,,614556,ENSG00000049618,,Q8NFD5,Q8NFD5,HGNC:18040 +GARD:0015076,Orphanet+OMIM,142623,OMIM:142623,1,RET,"[CDHF12, CDHR16, PTC, RET receptor tyrosine kinase, RET51, cadherin-related family member 16, rearranged during transfection]",ret proto-oncogene,gene with protein product,10q11.21,The molecular basis of the disorder is known,Unknown,,164761,ENSG00000165731,objectId:2185,P07949,P07949,HGNC:9967 +GARD:0015077,Orphanet+OMIM,144250,OMIM:144250,1,LPL,,lipoprotein lipase,gene with protein product,8p21.3,The molecular basis of the disorder is known,Unknown,,609708,ENSG00000175445,,P06858,P06858,HGNC:6677 +GARD:0015078,Orphanet+OMIM,146550,OMIM:146550,1,HRURF,[U2HR],HR upstream open reading frame,gene with protein product,8p21.3,The molecular basis of the disorder is known,Unknown,,619257,ENSG00000288677,,P0DUH7,,HGNC:55085 +GARD:0015079,Orphanet+OMIM,147480,OMIM:147480,1,ATP8B1,"[ATPIC, PFIC]",ATPase phospholipid transporting 8B1,gene with protein product,18q21.31,The molecular basis of the disorder is known,Unknown,,602397,ENSG00000081923,objectId:856,O43520,O43520,HGNC:3706 +GARD:0015080,Orphanet+OMIM,148000,OMIM:148000,1,IL6,"[BSF2, HGF, HSF, IL-6, beta 2, interferon]",interleukin 6,gene with protein product,7p15.3,The molecular basis of the disorder is known,Unknown,,147620,ENSG00000136244,ligandId:4998,P05231,P05231,HGNC:6018 +GARD:0015081,Orphanet+OMIM,148600,OMIM:148600,1,AAGAB,"[FLJ11506, p34]",alpha and gamma adaptin binding protein,gene with protein product,15q23,The molecular basis of the disorder is known,Unknown,,614888,ENSG00000103591,,Q6PD74,,HGNC:25662 +GARD:0015082,Orphanet+OMIM,153670,OMIM:153670,1,GP1BA,"[CD42b, GPIbalpha, platelet glycoprotein Ib alpha chain]",glycoprotein Ib platelet subunit alpha,gene with protein product,17p13.2,The molecular basis of the disorder is known,Unknown,,606672,ENSG00000185245,,P07359,P07359,HGNC:4439 +GARD:0015083,Orphanet+OMIM,154230,OMIM:154230,1,DEL9p24.3,"[C9DELp24.3, SRXY4]",Chromosome 9p24.3 deletion syndrome,,9p24.3,The disorder is a chromosome deletion or duplication syndrome,Unknown,,154230,,,,,OMIM:154230 +GARD:0015086,Orphanet+OMIM,157600,OMIM:157600,1,DCC,"[DCC subclass, IGDCC1, NTN1R1, immunoglobulin superfamily, member 1]",DCC netrin 1 receptor,gene with protein product,18q21.2,The molecular basis of the disorder is known,Unknown,,120470,ENSG00000187323,,P43146,P43146,HGNC:2701 +GARD:0015087,Orphanet+OMIM,158900,OMIM:158900,1,FSHD1,[FSHD1A],Facioscapulohumeral muscular dystrophy 1,,4q35,The disorder is a chromosome deletion or duplication syndrome,Unknown,,158900,,,,,OMIM:158900 +GARD:0015088,Orphanet+OMIM,158901,OMIM:158901,1,SMCHD1,"[FSHD2, KIAA0650]",structural maintenance of chromosomes flexible hinge domain containing 1,gene with protein product,18p11.32,The molecular basis of the disorder is known,Unknown,,614982,ENSG00000101596,,A6NHR9,,HGNC:29090 +GARD:0015090,Orphanet+OMIM,160980,OMIM:160980,1,PRKAR1A,"[CNC1, Carney complex type 1]",protein kinase cAMP-dependent type I regulatory subunit alpha,gene with protein product,17q24.2,The molecular basis of the disorder is known,Unknown,,188830,ENSG00000108946,objectId:1472,P10644,P10644,HGNC:9388 +GARD:0015091,Orphanet+OMIM,161400,OMIM:161400,1,HCRT,"[OX, PPOX, orexin, prepro-orexin]",hypocretin neuropeptide precursor,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,602358,ENSG00000161610,ligandId:1697,O43612,O43612,HGNC:4847 +GARD:0015092,Orphanet+OMIM,161550,OMIM:161550,1,NPCA2,,"Nasopharyngeal carcinoma, susceptibility to, 2",unknown,6p21.3,The disease phenotype itself was mapped,Unknown,,161550,,,,,GeneID:100312951 +GARD:0015093,Orphanet+OMIM,613956,OMIM:613956,1,IL17F,"[IL-17F, ML-1, ML1]",interleukin 17F,gene with protein product,6p12.2,The molecular basis of the disorder is known,Unknown,,606496,ENSG00000112116,ligandId:5873,Q96PD4,Q96PD4,HGNC:16404 +GARD:0015095,Orphanet+OMIM,162400,OMIM:162400,1,SPTLC1,"[HSAN1, LCB1, SPTI, hLCB1]",serine palmitoyltransferase long chain base subunit 1,gene with protein product,9q22.31,The molecular basis of the disorder is known,Unknown,,605712,ENSG00000090054,objectId:2509,O15269,O15269,HGNC:11277 +GARD:0015096,Orphanet+OMIM,163500,OMIM:163500,1,PDE6B,"[CSNB3, CSNBAD2, RP40, autosomal dominant, congenital stationary night blindness 3, rd1, rod cGMP-specific 3';5'-cyclic phosphodiesterase subunit beta]",phosphodiesterase 6B,gene with protein product,4p16.3,The molecular basis of the disorder is known,Unknown,,180072,ENSG00000133256,objectId:1313,P35913,P35913,HGNC:8786 +GARD:0015097,Orphanet+OMIM,164310,OMIM:164310,1,LRP12,"[FLJ12929, ST7]",LDL receptor related protein 12,gene with protein product,8q22.3,The molecular basis of the disorder is known,Unknown,,618299,ENSG00000147650,,Q9Y561,Q9Y561,HGNC:31708 +GARD:0015099,Orphanet+OMIM,165500,OMIM:165500,1,OPA1,"[Dynamin-like 120 kDa protein, FLJ12460, KIAA0567, MGM1, NPG, NTG, dynamin-like guanosine triphosphatase, mitochondrial, mitochondrial dynamin-like GTPase]",OPA1 mitochondrial dynamin like GTPase,gene with protein product,3q29,The molecular basis of the disorder is known,Unknown,,605290,ENSG00000198836,,O60313,O60313,HGNC:8140 +GARD:0015101,Orphanet+OMIM,167100,OMIM:167100,1,SLCO2A1,"[OATP2A1, PGT, prostaglandin transporter]",solute carrier organic anion transporter family member 2A1,gene with protein product,3q22.1-q22.2,The molecular basis of the disorder is known,Unknown,,601460,ENSG00000174640,objectId:1223,Q92959,Q92959,HGNC:10955 +GARD:0015102,Orphanet+OMIM,167200,OMIM:167200,1,KRT16,"[NEPPK, focal non-epidermolytic palmoplantar keratoderma]",keratin 16,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,148067,ENSG00000186832,,P08779,P08779,HGNC:6423 +GARD:0015103,Orphanet+OMIM,167210,OMIM:167210,1,KRT17,,keratin 17,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,148069,ENSG00000128422,,Q04695,Q04695,HGNC:6427 +GARD:0015105,Orphanet+OMIM,171300,OMIM:171300,7,RET,"[CDHF12, CDHR16, PTC, RET receptor tyrosine kinase, RET51, cadherin-related family member 16, rearranged during transfection]",ret proto-oncogene,gene with protein product,10q11.21,The molecular basis of the disorder is known,Unknown,,164761,ENSG00000165731,objectId:2185,P07949,P07949,HGNC:9967 +GARD:0015105,Orphanet+OMIM,171300,OMIM:171300,7,MAX,"[bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8]",MYC associated factor X,gene with protein product,14q23.3,The molecular basis of the disorder is known,Unknown,,154950,ENSG00000125952,,P61244,P61244,HGNC:6913 +GARD:0015105,Orphanet+OMIM,171300,OMIM:171300,7,TMEM127,"[FLJ20507, FLJ22257]",transmembrane protein 127,gene with protein product,2q11.2,The molecular basis of the disorder is known,Unknown,,613403,ENSG00000135956,,O75204,,HGNC:26038 +GARD:0015105,Orphanet+OMIM,171300,OMIM:171300,7,KIF1B,"[Charcot-Marie-Tooth neuropathy type II, HMSNII, KIAA0591, KLP]",kinesin family member 1B,gene with protein product,1p36.22,The molecular basis of the disorder is known,Unknown,,605995,ENSG00000054523,,O60333,O60333,HGNC:16636 +GARD:0015105,Orphanet+OMIM,171300,OMIM:171300,7,VHL,[VHL1],von Hippel-Lindau tumor suppressor,gene with protein product,3p25.3,The molecular basis of the disorder is known,Unknown,,608537,ENSG00000134086,objectId:3204,P40337,P40337,HGNC:12687 +GARD:0015105,Orphanet+OMIM,171300,OMIM:171300,7,SDHD,"[cybS, small subunit of cytochrome b]",succinate dehydrogenase complex subunit D,gene with protein product,11q23.1,The molecular basis of the disorder is known,Unknown,,602690,ENSG00000204370,,O14521,O14521,HGNC:10683 +GARD:0015105,Orphanet+OMIM,171300,OMIM:171300,7,SDHB,"[iron-sulfur subunit of complex II, succinate dehydrogenase [ubiquinone] iron-sulfur subunit]",succinate dehydrogenase complex iron sulfur subunit B,gene with protein product,1p36.13,The molecular basis of the disorder is known,Unknown,,185470,ENSG00000117118,,P21912,P21912,HGNC:10681 +GARD:0015106,Orphanet+OMIM,175510,OMIM:175510,1,PDGFRA,"[CD140a, GAS9, PDGFR2]",platelet derived growth factor receptor alpha,gene with protein product,4q12,The molecular basis of the disorder is known,Unknown,,173490,ENSG00000134853,objectId:1803,P16234,P16234,HGNC:8803 +GARD:0015107,Orphanet+OMIM,175780,OMIM:175780,1,COL4A1,,collagen type IV alpha 1 chain,gene with protein product,13q34,The molecular basis of the disorder is known,Unknown,,120130,ENSG00000187498,ligandId:4901,P02462,P02462,HGNC:2202 +GARD:0015108,Orphanet+OMIM,175800,OMIM:175800,1,PMVK,"[HUMPMKI, PMK, PMKA]",phosphomevalonate kinase,gene with protein product,1q21.3,The molecular basis of the disorder is known,Unknown,,607622,ENSG00000163344,objectId:641,Q15126,Q15126,HGNC:9141 +GARD:0015110,Orphanet+OMIM,180105,OMIM:180105,1,IMPDH1,"[LCA11, sWSS2608]",inosine monophosphate dehydrogenase 1,gene with protein product,7q32.1,The molecular basis of the disorder is known,Unknown,,146690,ENSG00000106348,objectId:2624,P20839,P20839,HGNC:6052 +GARD:0015112,Orphanet+OMIM,181460,OMIM:181460,1,SM1,,"Schistosoma mansoni infection, susceptibility/resistance to",unknown,5q31-q33,The disease phenotype itself was mapped,Unknown,,181460,,,,,GeneID:7911 +GARD:0015114,Orphanet+OMIM,184100,OMIM:184100,1,SPDT,,"Spondyloepiphyseal dysplasia tarda, autosomal dominant",unknown,12q13,The disease phenotype itself was mapped,Unknown,,184100,,,,,GeneID:103875461 +GARD:0015115,Orphanet+OMIM,186500,OMIM:186500,1,NOG,,noggin,gene with protein product,17q22,The molecular basis of the disorder is known,Unknown,,602991,ENSG00000183691,ligandId:10975,Q13253,Q13253,HGNC:7866 +GARD:0015117,Orphanet+OMIM,187900,OMIM:187900,1,GFI1B,[ZNF163B],growth factor independent 1B transcriptional repressor,gene with protein product,9q34.13,The molecular basis of the disorder is known,Unknown,,604383,ENSG00000165702,,Q5VTD9,,HGNC:4238 +GARD:0015118,Orphanet+OMIM,188400,OMIM:188400,1,TBX1,[CATCH22],T-box transcription factor 1,gene with protein product,22q11.21,The molecular basis of the disorder is known,Unknown,,602054,ENSG00000184058,,O43435,,HGNC:11592 +GARD:0015119,Orphanet+OMIM,188580,OMIM:188580,1,CACNA1S,"[Cav1.1, hypoPP]",calcium voltage-gated channel subunit alpha1 S,gene with protein product,1q32.1,The molecular basis of the disorder is known,Unknown,,114208,ENSG00000081248,objectId:528,Q13698,Q13698,HGNC:1397 +GARD:0015121,Orphanet+OMIM,191100,OMIM:191100,1,TSC1,"[KIAA0243, LAM, hamartin, hamartin]",TSC complex subunit 1,gene with protein product,9q34.13,The molecular basis of the disorder is known,Unknown,,605284,ENSG00000165699,,Q92574,Q92574,HGNC:12362 +GARD:0015122,Orphanet+OMIM,191480,OMIM:191480,1,PADI3,[PDI3],peptidyl arginine deiminase 3,gene with protein product,1p36.13,The molecular basis of the disorder is known,Unknown,,606755,ENSG00000142619,objectId:2878,Q9ULW8,Q9ULW8,HGNC:18337 +GARD:0015123,Orphanet+OMIM,192430,OMIM:192430,1,TBX1,[CATCH22],T-box transcription factor 1,gene with protein product,22q11.21,The molecular basis of the disorder is known,Unknown,,602054,ENSG00000184058,,O43435,,HGNC:11592 +GARD:0015124,Orphanet+OMIM,194070,OMIM:194070,3,GPC3,"[DGSX, OCI-5, SGB, SGBS, SGBS1, glypican proteoglycan 3]",glypican 3,gene with protein product,Xq26.2,The molecular basis of the disorder is known,Unknown,,300037,ENSG00000147257,objectId:2959,P51654,P51654,HGNC:4451 +GARD:0015124,Orphanet+OMIM,194070,OMIM:194070,3,WT1,"[AWT1, NPHS4, WAGR, WIT-2, WT-1]",WT1 transcription factor,gene with protein product,11p13,The molecular basis of the disorder is known,Unknown,,607102,ENSG00000184937,,P19544,P19544,HGNC:12796 +GARD:0015124,Orphanet+OMIM,194070,OMIM:194070,3,BRCA2,"[BRCA1/BRCA2-containing complex, BRCC2, FAD, FAD1, XRCC11, subunit 2]",BRCA2 DNA repair associated,gene with protein product,13q13.1,The molecular basis of the disorder is known,Unknown,,600185,ENSG00000139618,,P51587,P51587,HGNC:1101 +GARD:0015125,Orphanet+OMIM,194090,OMIM:194090,1,WT3,,Wilms tumor-3,unknown,16q,The disease phenotype itself was mapped,Unknown,,194090,,,,,GeneID:8136 +GARD:0015126,Orphanet+OMIM,194380,OMIM:194380,1,PIEZO1,[KIAA0233],piezo type mechanosensitive ion channel component 1,gene with protein product,16q24.3,The molecular basis of the disorder is known,Unknown,,611184,ENSG00000103335,objectId:2945,Q92508,,HGNC:28993 +GARD:0015127,Orphanet+OMIM,200100,OMIM:200100,1,MTTP,[ABL],microsomal triglyceride transfer protein,gene with protein product,4q23,The molecular basis of the disorder is known,Unknown,,157147,ENSG00000138823,,P55157,P55157,HGNC:7467 +GARD:0015128,Orphanet+OMIM,201000,OMIM:201000,1,RAB23,,"RAB23, member RAS oncogene family",gene with protein product,6p12.1-p11.2,The molecular basis of the disorder is known,Unknown,,606144,ENSG00000112210,,Q9ULC3,Q9ULC3,HGNC:14263 +GARD:0015129,Orphanet+OMIM,201300,OMIM:201300,1,WNK1,"[HSAN2, PPP1R167, protein phosphatase 1, regulatory subunit 167]",WNK lysine deficient protein kinase 1,gene with protein product,12p13.33,The molecular basis of the disorder is known,Unknown,,605232,ENSG00000060237,objectId:2280,Q9H4A3,Q9H4A3,HGNC:14540 +GARD:0015132,Orphanet+OMIM,202300,OMIM:202300,1,TP53,"[LFS1, Li-Fraumeni syndrome, p53]",tumor protein p53,gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0015134,Orphanet+OMIM,202370,OMIM:202370,1,PEX5,"[PTS1R, peroxisomal import receptor 5, peroxisomal targeting signal 1 receptor]",peroxisomal biogenesis factor 5,gene with protein product,12p13.31,The molecular basis of the disorder is known,Unknown,,600414,ENSG00000139197,,P50542,P50542,HGNC:9719 +GARD:0015135,Orphanet+OMIM,203655,OMIM:203655,1,HR,[AU],HR lysine demethylase and nuclear receptor corepressor,gene with protein product,8p21.3,The molecular basis of the disorder is known,Unknown,,602302,ENSG00000168453,,O43593,,HGNC:5172 +GARD:0015136,Orphanet+OMIM,204650,OMIM:204650,1,ENAM,,enamelin,gene with protein product,4q13.3,The molecular basis of the disorder is known,Unknown,,606585,ENSG00000132464,,Q9NRM1,Q9NRM1,HGNC:3344 +GARD:0015137,Orphanet+OMIM,205100,OMIM:205100,1,ALS2,[alsin],alsin Rho guanine nucleotide exchange factor ALS2,gene with protein product,2q33.1,The molecular basis of the disorder is known,Unknown,,606352,ENSG00000003393,,Q96Q42,Q96Q42,HGNC:443 +GARD:0015139,Orphanet+OMIM,208085,OMIM:208085,1,VPS33B,[FLJ14848],VPS33B late endosome and lysosome associated,gene with protein product,15q26.1,The molecular basis of the disorder is known,Unknown,,608552,ENSG00000184056,,Q9H267,Q9H267,HGNC:12712 +GARD:0015140,Orphanet+OMIM,208500,OMIM:208500,1,ATD,"[ATD1, SRTD1]",Short-rib thoracic dysplasia 1 with or without polydactyly,unknown,15q13,The disease phenotype itself was mapped,Unknown,,208500,,,,,GeneID:465 +GARD:0015143,Orphanet+OMIM,210600,OMIM:210600,1,ATR,"[FRP1, MEC1, MEC1, SCKL, SCKL1, homolog (S. cerevisiae), mitosis entry checkpoint 1]",ATR serine/threonine kinase,gene with protein product,3q23,The molecular basis of the disorder is known,Unknown,,601215,ENSG00000175054,objectId:1935,Q13535,Q13535,HGNC:882 +GARD:0015144,Orphanet+OMIM,210710,OMIM:210710,1,RNU4ATAC,"[RNU4ATAC1, U4atac, U4atac snRNA]","RNA, U4atac small nuclear","RNA, small nuclear",2q14.2,The molecular basis of the disorder is known,Unknown,,601428,ENSG00000264229,,,,HGNC:34016 +GARD:0015146,Orphanet+OMIM,211900,OMIM:211900,1,GALNT3,"[GalNAc-T3, HFTC, HHS, polypeptide GalNAc transferase 3]",polypeptide N-acetylgalactosaminyltransferase 3,gene with protein product,2q24.3,The molecular basis of the disorder is known,Unknown,,601756,ENSG00000115339,,Q14435,Q14435,HGNC:4125 +GARD:0015149,Orphanet+OMIM,214110,OMIM:214110,1,PEX5,"[PTS1R, peroxisomal import receptor 5, peroxisomal targeting signal 1 receptor]",peroxisomal biogenesis factor 5,gene with protein product,12p13.31,The molecular basis of the disorder is known,Unknown,,600414,ENSG00000139197,,P50542,P50542,HGNC:9719 +GARD:0015150,Orphanet+OMIM,214150,OMIM:214150,1,ERCC6,"[ARMD5, CSB, Cockayne syndrome B protein, RAD26]","ERCC excision repair 6, chromatin remodeling factor",gene with protein product,10q11.23,The molecular basis of the disorder is known,Unknown,,609413,ENSG00000225830,,"P0DP91, Q03468",,HGNC:3438 +GARD:0015151,Orphanet+OMIM,214300,OMIM:214300,1,MEOX1,[MOX1],mesenchyme homeobox 1,gene with protein product,17q21.31,The molecular basis of the disorder is known,Unknown,,600147,ENSG00000005102,,P50221,,HGNC:7013 +GARD:0015153,Orphanet+OMIM,216360,OMIM:216360,1,TMEM67,"[JBTS6, MGC26979, Meckelin, NPHP11]",transmembrane protein 67,gene with protein product,8q22.1,The molecular basis of the disorder is known,Unknown,,609884,ENSG00000164953,,Q5HYA8,Q5HYA8,HGNC:28396 +GARD:0015154,Orphanet+OMIM,216400,OMIM:216400,1,ERCC8,[CSA],"ERCC excision repair 8, CSA ubiquitin ligase complex subunit",gene with protein product,5q12.1,The molecular basis of the disorder is known,Unknown,,609412,ENSG00000049167,,Q13216,Q13216,HGNC:3439 +GARD:0015157,Orphanet+OMIM,219100,OMIM:219100,1,FBLN5,"[ARMD3, DANCE, EVEC, UP50, developmental arteries and neural crest EGF-like, embryonic vascular EGF-like repeat-containing protein]",fibulin 5,gene with protein product,14q32.12,The molecular basis of the disorder is known,Unknown,,604580,ENSG00000140092,,Q9UBX5,Q9UBX5,HGNC:3602 +GARD:0015158,Orphanet+OMIM,220110,OMIM:220110,1,SURF1,"[SHY1, surfeit locus protein 1]",SURF1 cytochrome c oxidase assembly factor,gene with protein product,9q34.2,The molecular basis of the disorder is known,Unknown,,185620,ENSG00000148290,,Q15526,Q15526,HGNC:11474 +GARD:0015159,Orphanet+OMIM,220111,OMIM:220111,1,LRPPRC,"[GP130, LRP130]",leucine rich pentatricopeptide repeat containing,gene with protein product,2p21,The molecular basis of the disorder is known,Unknown,,607544,ENSG00000138095,,P42704,P42704,HGNC:15714 +GARD:0015160,Orphanet+OMIM,220210,OMIM:220210,1,WASHC5,[strumpellin],WASH complex subunit 5,gene with protein product,8q24.13,The molecular basis of the disorder is known,Unknown,,610657,ENSG00000164961,,Q12768,,HGNC:28984 +GARD:0015161,Orphanet+OMIM,222400,OMIM:222400,1,DIH2,,"Hernia, congenital diaphragmatic 2",unknown,8p23.1,The disease phenotype itself was mapped,Unknown,,222400,,,,,GeneID:780899 +GARD:0015162,Orphanet+OMIM,224690,OMIM:224690,1,ORC1,"[HSORC1, PARC1, S. cerevisiae, homolog-like, origin recognition complex, origin recognition complex 1, replication control protein 1, subunit 1]",origin recognition complex subunit 1,gene with protein product,1p32.3,The molecular basis of the disorder is known,Unknown,,601902,ENSG00000085840,,Q13415,Q13415,HGNC:8487 +GARD:0015163,Orphanet+OMIM,224900,OMIM:224900,1,EDAR,"[ED1R, ED5, EDA1R, EDA3]",ectodysplasin A receptor,gene with protein product,2q13,The molecular basis of the disorder is known,Unknown,,604095,ENSG00000135960,objectId:2325,Q9UNE0,Q9UNE0,HGNC:2895 +GARD:0015164,Orphanet+OMIM,225200,OMIM:225200,1,ADAMTSL4,[DKFZP434K1772],ADAMTS like 4,gene with protein product,1q21.2,The molecular basis of the disorder is known,Unknown,,610113,ENSG00000143382,,Q6UY14,Q6UY14,HGNC:19706 +GARD:0015165,Orphanet+OMIM,225250,OMIM:225250,1,NKX2-5,"[CSX1, NKX2.5, NKX4-1, tinman (Drosophila) homolog]",NK2 homeobox 5,gene with protein product,5q35.1,The molecular basis of the disorder is known,Unknown,,600584,ENSG00000183072,,P52952,P52952,HGNC:2488 +GARD:0015166,Orphanet+OMIM,225300,OMIM:225300,1,WNT10B,"[SHFM6, WNT-12]",Wnt family member 10B,gene with protein product,12q13.12,The molecular basis of the disorder is known,Unknown,,601906,ENSG00000169884,ligandId:3688,O00744,O00744,HGNC:12775 +GARD:0015167,Orphanet+OMIM,225750,OMIM:225750,1,TREX1,[DRN3],three prime repair exonuclease 1,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,606609,ENSG00000213689,,Q9NSU2,Q9NSU2,HGNC:12269 +GARD:0015168,Orphanet+OMIM,227645,OMIM:227645,1,FANCC,"[FA3, FAC]",FA complementation group C,gene with protein product,9q22.32,The molecular basis of the disorder is known,Unknown,,613899,ENSG00000158169,,Q00597,Q00597,HGNC:3584 +GARD:0015169,Orphanet+OMIM,227646,OMIM:227646,1,FANCD2,"[FA-D2, FAD]",FA complementation group D2,gene with protein product,3p25.3,The molecular basis of the disorder is known,Unknown,,613984,ENSG00000144554,,Q9BXW9,Q9BXW9,HGNC:3585 +GARD:0015170,Orphanet+OMIM,227650,OMIM:227650,1,FANCA,"[FA-H, FAA, FAH]",FA complementation group A,gene with protein product,16q24.3,The molecular basis of the disorder is known,Unknown,,607139,ENSG00000187741,,O15360,O15360,HGNC:3582 +GARD:0015172,Orphanet+OMIM,231050,OMIM:231050,1,ADAMTSL2,[KIAA0605],ADAMTS like 2,gene with protein product,9q34.2,The molecular basis of the disorder is known,Unknown,,612277,ENSG00000197859,,Q86TH1,Q86TH1,HGNC:14631 +GARD:0015173,Orphanet+OMIM,232240,OMIM:232240,1,SLC37A4,"[G6PT, GSD1b, GSD1c, GSD1d, Glucose-6-phosphate exchanger SLC37A4, SPX4, glucose-6-phosphatase transporter, sugar-phosphate exchange protein 4]",solute carrier family 37 member 4,gene with protein product,11q23.3,The molecular basis of the disorder is known,Unknown,,602671,ENSG00000137700,objectId:1168,O43826,O43826,HGNC:4061 +GARD:0015174,Orphanet+OMIM,233420,OMIM:233420,1,DHH,"[HHG-3, MGC35145]",desert hedgehog signaling molecule,gene with protein product,12q13.12,The molecular basis of the disorder is known,Unknown,,605423,ENSG00000139549,,O43323,O43323,HGNC:2865 +GARD:0015175,Orphanet+OMIM,233690,OMIM:233690,1,CYBA,"[flavocytochrome b-558 alpha polypeptide, p22-PHOX]",cytochrome b-245 alpha chain,gene with protein product,16q24.2,The molecular basis of the disorder is known,Unknown,,608508,ENSG00000051523,,P13498,P13498,HGNC:2577 +GARD:0015176,Orphanet+OMIM,233700,OMIM:233700,1,NCF1,"[NADPH oxidase organizer 2, NCF1A, NOXO2, SH3PXD1A, autosomal 1, chronic granulomatous disease, p47phox]",neutrophil cytosolic factor 1,gene with protein product,7q11.23,The molecular basis of the disorder is known,Unknown,,608512,ENSG00000158517,,P14598,P14598,HGNC:7660 +GARD:0015177,Orphanet+OMIM,233710,OMIM:233710,1,NCF2,"[NADPH oxidase activator 2, NOXA2, autosomal 2, chronic granulomatous disease, p67phox]",neutrophil cytosolic factor 2,gene with protein product,1q25.3,The molecular basis of the disorder is known,Unknown,,608515,ENSG00000116701,,P19878,P19878,HGNC:7661 +GARD:0015181,Orphanet+OMIM,235510,OMIM:235510,1,CCBE1,"[FLJ30681, KIAA1983]",collagen and calcium binding EGF domains 1,gene with protein product,18q21.32,The molecular basis of the disorder is known,Unknown,,612753,ENSG00000183287,,Q6UXH8,,HGNC:29426 +GARD:0015182,Orphanet+OMIM,236680,OMIM:236680,1,HYLS1,[FLJ32915],HYLS1 centriolar and ciliogenesis associated,gene with protein product,11q24.2,The molecular basis of the disorder is known,Unknown,,610693,ENSG00000198331,,Q96M11,,HGNC:26558 +GARD:0015184,Orphanet+OMIM,240500,OMIM:240500,1,TNFRSF13B,"[CD267, IGAD2, TACI]",TNF receptor superfamily member 13B,gene with protein product,17p11.2,The molecular basis of the disorder is known,Unknown,,604907,ENSG00000240505,objectId:1885,O14836,O14836,HGNC:18153 +GARD:0015185,Orphanet+OMIM,241600,OMIM:241600,1,B2M,,beta-2-microglobulin,gene with protein product,15q21.1,The molecular basis of the disorder is known,Unknown,,109700,ENSG00000166710,,P61769,P61769,HGNC:914 +GARD:0015187,Orphanet+OMIM,242100,OMIM:242100,1,ALOX12B,"[12R-LOX, 12R-lipoxygenase]","arachidonate 12-lipoxygenase, 12R type",gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,603741,ENSG00000179477,objectId:1386,O75342,O75342,HGNC:430 +GARD:0015188,Orphanet+OMIM,242860,OMIM:242860,1,DNMT3B,,DNA methyltransferase 3 beta,gene with protein product,20q11.21,The molecular basis of the disorder is known,Unknown,,602900,ENSG00000088305,,Q9UBC3,Q9UBC3,HGNC:2979 +GARD:0015189,Orphanet+OMIM,243310,OMIM:243310,1,ACTB,[β-actin],actin beta,gene with protein product,7p22.1,The molecular basis of the disorder is known,Unknown,,102630,ENSG00000075624,,P60709,P60709,HGNC:132 +GARD:0015191,Orphanet+OMIM,245300,OMIM:245300,1,PRNP,"[AltPrP, CD230, Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, PRP, fatal familial insomnia, p27-30]",prion protein,gene with protein product,20p13,The molecular basis of the disorder is known,Unknown,,176640,ENSG00000171867,,"F7VJQ1, P04156",,HGNC:9449 +GARD:0015192,Orphanet+OMIM,246300,OMIM:246300,1,TLR2,"[CD282, TIL4]",toll like receptor 2,gene with protein product,4q31.3,The molecular basis of the disorder is known,Unknown,,603028,ENSG00000137462,objectId:1752,O60603,O60603,HGNC:11848 +GARD:0015193,Orphanet+OMIM,246560,OMIM:246560,1,SHFM3,"[C10DUPq24, DUP10q24, SHSF3]",Split-hand/foot malformation 3 (Chromosome 10q24 duplication syndrome),,10q24,The disorder is a chromosome deletion or duplication syndrome,Unknown,,246560,,,,,OMIM:246560 +GARD:0015195,Orphanet+OMIM,249210,OMIM:249210,1,MYLK,"[KRP, MLCK, MLCK1, MLCK108, MLCK210, MYLK-L, MYLK1, Telokin, kinase related protein, smMLCK, smooth muscle myosin light chain kinase]",myosin light chain kinase,gene with protein product,3q21.1,The molecular basis of the disorder is known,Unknown,,600922,ENSG00000065534,objectId:1552,Q15746,Q15746,HGNC:7590 +GARD:0015196,Orphanet+OMIM,250790,OMIM:250790,1,CYB5A,"[MCB5, Microsomal cytochrome b5]",cytochrome b5 type A,gene with protein product,18q22.3,The molecular basis of the disorder is known,Unknown,,613218,ENSG00000166347,,P00167,P00167,HGNC:2570 +GARD:0015197,Orphanet+OMIM,250800,OMIM:250800,1,CYB5R3,"[B5R, NADH-cytochrome b5 reductase 3]",cytochrome b5 reductase 3,gene with protein product,22q13.2,The molecular basis of the disorder is known,Unknown,,613213,ENSG00000100243,,P00387,P00387,HGNC:2873 +GARD:0015198,Orphanet+OMIM,251200,OMIM:251200,1,MCPH1,"[BRCT-repeat inhibitor of TERT expression 1, BRIT1, FLJ12847]",microcephalin 1,gene with protein product,8p23.1,The molecular basis of the disorder is known,Unknown,,607117,ENSG00000147316,,Q8NEM0,Q8NEM0,HGNC:6954 +GARD:0015199,Orphanet+OMIM,251300,OMIM:251300,1,WDR73,"[FLJ14888, HSPC264]",WD repeat domain 73,gene with protein product,15q25.2,The molecular basis of the disorder is known,Unknown,,616144,ENSG00000177082,,Q6P4I2,,HGNC:25928 +GARD:0015201,Orphanet+OMIM,252010,OMIM:252010,1,NDUFS4,"[AQDQ, CI-18, complex I 18kDa subunit]",NADH:ubiquinone oxidoreductase subunit S4,gene with protein product,5q11.2,The molecular basis of the disorder is known,Unknown,,602694,ENSG00000164258,,O43181,O43181,HGNC:7711 +GARD:0015202,Orphanet+OMIM,252011,OMIM:252011,1,SDHA,"[FP, SDHF, flavoprotein subunit of complex II, succinate dehydrogenase [ubiquinone] flavoprotein subunit]",succinate dehydrogenase complex flavoprotein subunit A,gene with protein product,5p15.33,The molecular basis of the disorder is known,Unknown,,600857,ENSG00000073578,,P31040,P31040,HGNC:10680 +GARD:0015204,Orphanet+OMIM,253280,OMIM:253280,1,POMGNT1,"[FLJ20277, LGMD2O, MGAT1.2, protein O-mannose beta-1;2-N-acetylglucosaminyltransferase]","protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",gene with protein product,1p34.1,The molecular basis of the disorder is known,Unknown,,606822,ENSG00000085998,,Q8WZA1,Q8WZA1,HGNC:19139 +GARD:0015205,Orphanet+OMIM,253800,OMIM:253800,1,FKTN,[LGMD2M],fukutin,gene with protein product,9q31.2,The molecular basis of the disorder is known,Unknown,,607440,ENSG00000106692,,O75072,,HGNC:3622 +GARD:0015206,Orphanet+OMIM,254300,OMIM:254300,1,DOK7,"[Dok-7, FLJ33718, FLJ39137]",docking protein 7,gene with protein product,4p16.3,The molecular basis of the disorder is known,Unknown,,610285,ENSG00000175920,,Q18PE1,,HGNC:26594 +GARD:0015207,Orphanet+OMIM,255160,OMIM:255160,1,MYH7,[CMD1S],myosin heavy chain 7,gene with protein product,14q11.2,The molecular basis of the disorder is known,Unknown,,160760,ENSG00000092054,,P12883,,HGNC:7577 +GARD:0015208,Orphanet+OMIM,255200,OMIM:255200,1,BIN1,"[AMPH2, SH3P9, amphiphysin II]",bridging integrator 1,gene with protein product,2q14.3,The molecular basis of the disorder is known,Unknown,,601248,ENSG00000136717,,O00499,O00499,HGNC:1052 +GARD:0015209,Orphanet+OMIM,256030,OMIM:256030,1,NEB,"[NEB177D, nemaline myopathy type 2]",nebulin,gene with protein product,2q23.3,The molecular basis of the disorder is known,Unknown,,161650,ENSG00000183091,,P20929,P20929,HGNC:7720 +GARD:0015210,Orphanet+OMIM,256370,OMIM:256370,1,WT1,"[AWT1, NPHS4, WAGR, WIT-2, WT-1]",WT1 transcription factor,gene with protein product,11p13,The molecular basis of the disorder is known,Unknown,,607102,ENSG00000184937,,P19544,P19544,HGNC:12796 +GARD:0015211,Orphanet+OMIM,256700,OMIM:256700,1,KIF1B,"[Charcot-Marie-Tooth neuropathy type II, HMSNII, KIAA0591, KLP]",kinesin family member 1B,gene with protein product,1p36.22,The molecular basis of the disorder is known,Unknown,,605995,ENSG00000054523,,O60333,O60333,HGNC:16636 +GARD:0015212,Orphanet+OMIM,257270,OMIM:257270,1,GRM6,"[CSNB1B, GPRC1F, MGLUR6, mGlu6]",glutamate metabotropic receptor 6,gene with protein product,5q35.3,The molecular basis of the disorder is known,Unknown,,604096,ENSG00000113262,objectId:294,O15303,O15303,HGNC:4598 +GARD:0015213,Orphanet+OMIM,257850,OMIM:257850,1,GJA1,"[CX43, ODD, ODOD, SDTY3, connexin 43, oculodentodigital dysplasia (syndactyly type III)]",gap junction protein alpha 1,gene with protein product,6q22.31,The molecular basis of the disorder is known,Unknown,,121014,ENSG00000152661,objectId:728,P17302,P17302,HGNC:4274 +GARD:0015214,Orphanet+OMIM,258150,OMIM:258150,1,SYCP2,[SCP2],synaptonemal complex protein 2,gene with protein product,20q13.33,The molecular basis of the disorder is known,Unknown,,604105,ENSG00000196074,,Q9BX26,Q9BX26,HGNC:11490 +GARD:0015215,Orphanet+OMIM,258450,OMIM:258450,1,POLG,"[POLG1, POLGA]","DNA polymerase gamma, catalytic subunit",gene with protein product,15q26.1,The molecular basis of the disorder is known,Unknown,,174763,ENSG00000140521,,P54098,,HGNC:9179 +GARD:0015216,Orphanet+OMIM,259100,OMIM:259100,1,HPGD,"[15-hydroxyprostaglandin dehydrogenase (NAD(+)), SDR36C1, member 1, short chain dehydrogenase/reductase family 36C]",15-hydroxyprostaglandin dehydrogenase,gene with protein product,4q34.1,The molecular basis of the disorder is known,Unknown,,601688,ENSG00000164120,objectId:1384,P15428,P15428,HGNC:5154 +GARD:0015220,Orphanet+OMIM,260370,OMIM:260370,1,PDX1,"[GSF, Glucose-sensitive factor, IDX-1, IUF-1, Islet/duodenum homeobox-1, MODY4, PDX-1, STF-1, insulin upstream factor 1, somatostatin transcription factor 1]",pancreatic and duodenal homeobox 1,gene with protein product,13q12.2,The molecular basis of the disorder is known,Unknown,,600733,ENSG00000139515,,P52945,P52945,HGNC:6107 +GARD:0015221,Orphanet+OMIM,260400,OMIM:260400,1,SBDS,"[CGI-97, FLJ10917, SDO1, SDS, SWDS]",SBDS ribosome maturation factor,gene with protein product,7q11.21,The molecular basis of the disorder is known,Unknown,,607444,ENSG00000126524,,Q9Y3A5,,HGNC:19440 +GARD:0015222,Orphanet+OMIM,262600,OMIM:262600,1,PROP1,,PROP paired-like homeobox 1,gene with protein product,5q35.3,The molecular basis of the disorder is known,Unknown,,601538,ENSG00000175325,,O75360,,HGNC:9455 +GARD:0015223,Orphanet+OMIM,263210,OMIM:263210,1,ALG9,"[dol-P-Man dependent alpha-1;2-mannosyltransferase, dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1;2-mannosyltransferase, dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1;2-mannosyltransferase]","ALG9 alpha-1,2-mannosyltransferase",gene with protein product,11q23.1,The molecular basis of the disorder is known,Unknown,,606941,ENSG00000086848,,Q9H6U8,Q9H6U8,HGNC:15672 +GARD:0015224,Orphanet+OMIM,263520,OMIM:263520,1,NEK1,"[KIAA1901, NY-REN-55]",NIMA related kinase 1,gene with protein product,4q33,The molecular basis of the disorder is known,Unknown,,604588,ENSG00000137601,objectId:2114,Q96PY6,,HGNC:7744 +GARD:0015226,Orphanet+OMIM,266510,OMIM:266510,1,PEX12,,peroxisomal biogenesis factor 12,gene with protein product,17q12,The molecular basis of the disorder is known,Unknown,,601758,ENSG00000108733,,O00623,O00623,HGNC:8854 +GARD:0015227,Orphanet+OMIM,266920,OMIM:266920,1,IFT140,"[KIAA0590, gs114]",intraflagellar transport 140,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,614620,ENSG00000187535,,Q96RY7,Q96RY7,HGNC:29077 +GARD:0015229,Orphanet+OMIM,267300,OMIM:267300,1,ATP6V1B1,"[RTA1B, Renal tubular acidosis with deafness, V-ATPase subunit B1, VATB, Vma2]",ATPase H+ transporting V1 subunit B1,gene with protein product,2p13.3,The molecular basis of the disorder is known,Unknown,,192132,ENSG00000116039,objectId:811,P15313,P15313,HGNC:853 +GARD:0015233,Orphanet+OMIM,269500,OMIM:269500,1,SOST,"[DAND6, VBCH]",sclerostin,gene with protein product,17q21.31,The molecular basis of the disorder is known,Unknown,,605740,ENSG00000167941,ligandId:3704,Q9BQB4,Q9BQB4,HGNC:13771 +GARD:0015235,Orphanet+OMIM,270960,OMIM:270960,1,SYCP3,,synaptonemal complex protein 3,gene with protein product,12q23.2,The molecular basis of the disorder is known,Unknown,,604759,ENSG00000139351,,Q8IZU3,Q8IZU3,HGNC:18130 +GARD:0015236,Orphanet+OMIM,270970,OMIM:270970,1,SPTA1,"[EL2, elliptocytosis 2]","spectrin alpha, erythrocytic 1",gene with protein product,1q23.1,The molecular basis of the disorder is known,Unknown,,182860,ENSG00000163554,,P02549,P02549,HGNC:11272 +GARD:0015238,Orphanet+OMIM,273395,OMIM:273395,1,WNT3,"[MGC131950, MGC138321, MGC138323, WNT-3 proto-oncogene protein]",Wnt family member 3,gene with protein product,17q21.31-q21.32,The molecular basis of the disorder is known,Unknown,,165330,ENSG00000108379,ligandId:3675,P56703,P56703,HGNC:12782 +GARD:0015239,Orphanet+OMIM,273750,OMIM:273750,1,CUL7,[dJ20C7.5],cullin 7,gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,609577,ENSG00000044090,,Q14999,Q14999,HGNC:21024 +GARD:0015240,Orphanet+OMIM,273800,OMIM:273800,1,ITGA2B,"[CD41, CD41B, GPIIb, Integrin alpha-IIb, PPP1R93, platelet glycoprotein IIb of IIb/IIIa complex, protein phosphatase 1, regulatory subunit 93]",integrin subunit alpha 2b,gene with protein product,17q21.31,The molecular basis of the disorder is known,Unknown,,607759,ENSG00000005961,objectId:2441,P08514,P08514,HGNC:6138 +GARD:0015241,Orphanet+OMIM,276901,OMIM:276901,2,PDZD7,"[FLJ23209, bA108L7.8]",PDZ domain containing 7,gene with protein product,10q24.31,The molecular basis of the disorder is known,Unknown,,612971,ENSG00000186862,,Q9H5P4,,HGNC:26257 +GARD:0015241,Orphanet+OMIM,276901,OMIM:276901,2,USH2A,[RP39],usherin,gene with protein product,1q41,The molecular basis of the disorder is known,Unknown,,608400,ENSG00000042781,,O75445,,HGNC:12601 +GARD:0015242,Orphanet+OMIM,276902,OMIM:276902,1,CLRN1,,clarin 1,gene with protein product,3q25.1,The molecular basis of the disorder is known,Unknown,,606397,ENSG00000163646,,P58418,,HGNC:12605 +GARD:0015243,Orphanet+OMIM,277180,OMIM:277180,1,CFTR,"[ABC35, ATP-binding cassette sub-family C, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1, member 7]",CF transmembrane conductance regulator,gene with protein product,7q31.2,The molecular basis of the disorder is known,Unknown,,602421,ENSG00000001626,objectId:707,P13569,P13569,HGNC:1884 +GARD:0015244,Orphanet+OMIM,277470,OMIM:277470,1,TSEN54,"[SEN54, SEN54L]",tRNA splicing endonuclease subunit 54,gene with protein product,17q25.1,The molecular basis of the disorder is known,Unknown,,608755,ENSG00000182173,,Q7Z6J9,Q7Z6J9,HGNC:27561 +GARD:0015245,Orphanet+OMIM,277580,OMIM:277580,1,EDNRB,[ETB],endothelin receptor type B,gene with protein product,13q22.3,The molecular basis of the disorder is known,Unknown,,131244,ENSG00000136160,objectId:220,P24530,P24530,HGNC:3180 +GARD:0015246,Orphanet+OMIM,277600,OMIM:277600,1,ADAMTS10,[ADAM-TS10],ADAM metallopeptidase with thrombospondin type 1 motif 10,gene with protein product,19p13.2,The molecular basis of the disorder is known,Unknown,,608990,ENSG00000142303,objectId:1683,Q9H324,Q9H324,HGNC:13201 +GARD:0015247,Orphanet+OMIM,278150,OMIM:278150,1,LPAR6,[P2Y5],lysophosphatidic acid receptor 6,gene with protein product,13q14.2,The molecular basis of the disorder is known,Unknown,,609239,ENSG00000139679,objectId:163,P43657,P43657,HGNC:15520 +GARD:0015248,Orphanet+OMIM,615511,OMIM:615511,1,AMPD1,"[AMPD isoform M, MAD, MADA, myoadenylate deaminase, skeletal muscle AMPD]",adenosine monophosphate deaminase 1,gene with protein product,1p13.2,The molecular basis of the disorder is known,Unknown,,102770,ENSG00000116748,,P23109,P23109,HGNC:468 +GARD:0015249,Orphanet+OMIM,278850,OMIM:278850,1,SRXX2,[DUP17q24.3],46XX sex reversal 2,,17q24.3-q25.1,The disorder is a chromosome deletion or duplication syndrome,Unknown,,278850,,,,,OMIM:278850 +GARD:0015251,Orphanet+OMIM,300071,OMIM:300071,1,CACNA1F,"[CORDX3, CSNB2A, CSNBX2, Cav1.4, JM8, JMC8, OA2]",calcium voltage-gated channel subunit alpha1 F,gene with protein product,Xp11.23,The molecular basis of the disorder is known,Unknown,,300110,ENSG00000102001,objectId:531,O60840,,HGNC:1393 +GARD:0015253,Orphanet+OMIM,300147,OMIM:300147,1,HPCX,[HPCX1],"Prostate cancer, hereditary, X-linked 1",unknown,Xq27-q28,The disease phenotype itself was mapped,Unknown,,300147,,,,,GeneID:9566 +GARD:0015254,Orphanet+OMIM,300260,OMIM:300260,1,MECP2,,methyl-CpG binding protein 2,gene with protein product,Xq28,The molecular basis of the disorder is known,Unknown,,300005,ENSG00000169057,,P51608,P51608,HGNC:6990 +GARD:0015256,Orphanet+OMIM,300388,OMIM:300388,1,BPP,"[CBPS, PMGX]","Polymicrogyria, bilateral perisylvian",,Xq27.2-q28,The disease phenotype itself was mapped,Unknown,,300388,,,,,OMIM:300388 +GARD:0015257,Orphanet+OMIM,300514,OMIM:300514,1,FANCB,"[FAAP95, FAB, FLJ34064]",FA complementation group B,gene with protein product,Xp22.2,The molecular basis of the disorder is known,Unknown,,300515,ENSG00000181544,,Q8NB91,Q8NB91,HGNC:3583 +GARD:0015258,Orphanet+OMIM,300580,OMIM:300580,1,CFTDX,,"Myopathy, congenital, with fiber-type disproportion, X-linked",unknown,Xq13.1-q22.1,The disease phenotype itself was mapped,Unknown,,300580,,,,,GeneID:100188765 +GARD:0015259,Orphanet+OMIM,300590,OMIM:300590,1,SMC1A,"[DXS423E, KIAA0178, SB1.8, Smcb]",structural maintenance of chromosomes 1A,gene with protein product,Xp11.22,The molecular basis of the disorder is known,Unknown,,300040,ENSG00000072501,,Q14683,Q14683,HGNC:11111 +GARD:0015260,Orphanet+OMIM,300704,OMIM:300704,1,HPCX2,,"Prostate cancer, hereditary, X-linked 2",unknown,Xp11.22,The disease phenotype itself was mapped,Unknown,,300704,,,,,GeneID:100188769 +GARD:0015261,Orphanet+OMIM,300717,OMIM:300717,1,FHL1,"[FHL1B, FLH1A, Four-and-a-half LIM domains 1, KYO-T, LIM protein SLIMMER, MGC111107, SLIM1, XMPMA, bA535K18.1]",four and a half LIM domains 1,gene with protein product,Xq26.3,The molecular basis of the disorder is known,Unknown,,300163,ENSG00000022267,,Q13642,,HGNC:3702 +GARD:0015262,Orphanet+OMIM,300718,OMIM:300718,1,FHL1,"[FHL1B, FLH1A, Four-and-a-half LIM domains 1, KYO-T, LIM protein SLIMMER, MGC111107, SLIM1, XMPMA, bA535K18.1]",four and a half LIM domains 1,gene with protein product,Xq26.3,The molecular basis of the disorder is known,Unknown,,300163,ENSG00000022267,,Q13642,,HGNC:3702 +GARD:0015263,Orphanet+OMIM,300770,OMIM:300770,1,CSF2RA,"[CD116, alpha-GM-CSF receptor, alphaGMR]",colony stimulating factor 2 receptor subunit alpha,gene with protein product,Xp22.33,The molecular basis of the disorder is known,Unknown,,306250,ENSG00000198223,objectId:1707,P15509,P15509,HGNC:2435 +GARD:0015264,Orphanet+OMIM,300799,OMIM:300799,1,ZDHHC9,"[CGI-89, DHHC9, ZNF379, ZNF380, Zinc finger protein 379, Zinc finger protein 380]",zinc finger DHHC-type palmitoyltransferase 9,gene with protein product,Xq26.1,The molecular basis of the disorder is known,Unknown,,300646,ENSG00000188706,,Q9Y397,Q9Y397,HGNC:18475 +GARD:0015265,Orphanet+OMIM,300804,OMIM:300804,1,OFD1,"[71-7A, JBTS10, Joubert syndrome type 10]",OFD1 centriole and centriolar satellite protein,gene with protein product,Xp22.2,The molecular basis of the disorder is known,Unknown,,300170,ENSG00000046651,,O75665,O75665,HGNC:2567 +GARD:0015266,Orphanet+OMIM,300815,OMIM:300815,1,DUPXq28,[CXq28],Chromosome Xq28 duplication syndrome,,Xq28,The disorder is a chromosome deletion or duplication syndrome,Unknown,,300815,,,,,OMIM:300815 +GARD:0015267,Orphanet+OMIM,300833,OMIM:300833,1,SRXX3,,46XX sex reversal 3,,Xq26.3,The disorder is a chromosome deletion or duplication syndrome,Unknown,,300833,,,,,OMIM:300833 +GARD:0015268,Orphanet+OMIM,300834,OMIM:300834,1,RPGR,[CORDX1],retinitis pigmentosa GTPase regulator,gene with protein product,Xp11.4,The molecular basis of the disorder is known,Unknown,,312610,ENSG00000156313,,Q92834,,HGNC:10295 +GARD:0015269,Orphanet+OMIM,300857,OMIM:300857,1,UBQLN2,"[CHAP1/DSK2, Chap1, Dsk2, LIC-2, N4BP4, NEDD4 binding protein 4, PLIC-2, PLIC2, RIHFB2157]",ubiquilin 2,gene with protein product,Xp11.21,The molecular basis of the disorder is known,Unknown,,300264,ENSG00000188021,,Q9UHD9,Q9UHD9,HGNC:12509 +GARD:0015270,Orphanet+OMIM,300867,OMIM:300867,1,KDM6A,,lysine demethylase 6A,gene with protein product,Xp11.3,The molecular basis of the disorder is known,Unknown,,300128,ENSG00000147050,objectId:2684,O15550,O15550,HGNC:12637 +GARD:0015271,Orphanet+OMIM,300882,OMIM:300882,1,HDAC8,"[KDAC8, RPD3]",histone deacetylase 8,gene with protein product,Xq13.1,The molecular basis of the disorder is known,Unknown,,300269,ENSG00000147099,objectId:2619,Q9BY41,Q9BY41,HGNC:13315 +GARD:0015272,Orphanet+OMIM,300887,OMIM:300887,1,COX7B,,cytochrome c oxidase subunit 7B,gene with protein product,Xq21.1,The molecular basis of the disorder is known,Unknown,,300885,ENSG00000131174,,P24311,P24311,HGNC:2291 +GARD:0015273,Orphanet+OMIM,300918,OMIM:300918,1,MBTPS2,"[S2P, site-2 protease, sterol regulatory element-binding proteins intramembrane protease]","membrane bound transcription factor peptidase, site 2",gene with protein product,Xp22.12,The molecular basis of the disorder is known,Unknown,,300294,ENSG00000012174,,O43462,O43462,HGNC:15455 +GARD:0015274,Orphanet+OMIM,300943,OMIM:300943,1,GPR101,,G protein-coupled receptor 101,gene with protein product,Xq26.3,The molecular basis of the disorder is known,Unknown,,300393,ENSG00000165370,objectId:125,Q96P66,,HGNC:14963 +GARD:0015275,Orphanet+OMIM,300946,OMIM:300946,1,TSR2,"[DT1P1A10, RP1-112K5.2, WGG motif containing 1, WGG1, escortin]",TSR2 ribosome maturation factor,gene with protein product,Xp11.22,The molecular basis of the disorder is known,Unknown,,300945,ENSG00000158526,,Q969E8,,HGNC:25455 +GARD:0015276,Orphanet+OMIM,300952,OMIM:300952,1,NDUFB11,"[ESSS, NP17.3, Np15, complex I NP17.3 subunit]",NADH:ubiquinone oxidoreductase subunit B11,gene with protein product,Xp11.3,The molecular basis of the disorder is known,Unknown,,300403,ENSG00000147123,,Q9NX14,Q9NX14,HGNC:20372 +GARD:0015277,Orphanet+OMIM,300953,OMIM:300953,1,RNF113A,"[Cwc24, RNF113]",ring finger protein 113A,gene with protein product,Xq24,The molecular basis of the disorder is known,Unknown,,300951,ENSG00000125352,,O15541,,HGNC:12974 +GARD:0015278,Orphanet+OMIM,300963,OMIM:300963,1,CCDC22,[JM1],coiled-coil domain containing 22,gene with protein product,Xp11.23,The molecular basis of the disorder is known,Unknown,,300859,ENSG00000101997,,O60826,O60826,HGNC:28909 +GARD:0015279,Orphanet+OMIM,300985,OMIM:300985,1,ADGRG2,"[EDDM6, HE6, TM7LN2, epididymal protein 6]",adhesion G protein-coupled receptor G2,gene with protein product,Xp22.13,The molecular basis of the disorder is known,Unknown,,300572,ENSG00000173698,objectId:187,Q8IZP9,,HGNC:4516 +GARD:0015280,Orphanet+OMIM,300991,OMIM:300991,1,DNAAF6,"[MGC35261, NYSAR97, TWISTER, sarcoma antigen NY-SAR-97]",dynein axonemal assembly factor 6,gene with protein product,Xq22.3,The molecular basis of the disorder is known,Unknown,,300933,ENSG00000080572,,Q9NQM4,,HGNC:28570 +GARD:0015281,Orphanet+OMIM,301006,OMIM:301006,1,LAGE3,"[CVG5, DNA segment on chromosome X (unique) 9879 expressed sequence, DXS9879E, DXS9951E, ESO3, ITBA2, Pcc1]",L antigen family member 3,gene with protein product,Xq28,The molecular basis of the disorder is known,Unknown,,300060,ENSG00000196976,,Q14657,Q14657,HGNC:26058 +GARD:0015282,Orphanet+OMIM,301008,OMIM:301008,1,CNKSR2,"[CNK2, KIAA0902, KSR2]",connector enhancer of kinase suppressor of Ras 2,gene with protein product,Xp22.12,The molecular basis of the disorder is known,Unknown,,300724,ENSG00000149970,,Q8WXI2,Q8WXI2,HGNC:19701 +GARD:0015283,Orphanet+OMIM,301020,OMIM:301020,1,NDUFA1,"[1 (7.5kD, CI-MWFE, MWFE, MWFE), NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, NADH:ubiquinone oxidoreductase (complex 1), complex I MWFE subunit, type I dehydrogenase]",NADH:ubiquinone oxidoreductase subunit A1,gene with protein product,Xq24,The molecular basis of the disorder is known,Unknown,,300078,ENSG00000125356,,O15239,O15239,HGNC:7683 +GARD:0015284,Orphanet+OMIM,301021,OMIM:301021,1,NDUFB11,"[ESSS, NP17.3, Np15, complex I NP17.3 subunit]",NADH:ubiquinone oxidoreductase subunit B11,gene with protein product,Xp11.3,The molecular basis of the disorder is known,Unknown,,300403,ENSG00000147123,,Q9NX14,Q9NX14,HGNC:20372 +GARD:0015285,Orphanet+OMIM,301028,OMIM:301028,1,TBC1D8B,"[FLJ20298, GRAMD8B, RP11-321G1.1]",TBC1 domain family member 8B,gene with protein product,Xq22.3,The molecular basis of the disorder is known,Unknown,,301027,ENSG00000133138,,Q0IIM8,Q0IIM8,HGNC:24715 +GARD:0015286,Orphanet+OMIM,301058,OMIM:301058,1,FGF13,"[FGF2, FHF2, FLJ30672, fibroblast growth factor homologous factor 2]",fibroblast growth factor 13,gene with protein product,Xq26.3-q27.1,The molecular basis of the disorder is known,Unknown,,300070,ENSG00000129682,,Q92913,Q92913,HGNC:3670 +GARD:0015287,Orphanet+OMIM,302045,OMIM:302045,1,DMD,"[BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, Duchenne and Becker types, muscular dystrophy]",dystrophin,gene with protein product,Xp21.2-p21.1,The molecular basis of the disorder is known,Unknown,,300377,ENSG00000198947,,P11532,P11532,HGNC:2928 +GARD:0015289,Orphanet+OMIM,304800,OMIM:304800,1,AVPR2,"[V2R, nephrogenic diabetes insipidus]",arginine vasopressin receptor 2,gene with protein product,Xq28,The molecular basis of the disorder is known,Unknown,,300538,ENSG00000126895,objectId:368,P30518,P30518,HGNC:897 +GARD:0015292,Orphanet+OMIM,305390,OMIM:305390,1,NDP,[norrin],norrin cystine knot growth factor NDP,gene with protein product,Xp11.3,The molecular basis of the disorder is known,Unknown,,300658,ENSG00000124479,ligandId:1063,Q00604,,HGNC:7678 +GARD:0015293,Orphanet+OMIM,305620,OMIM:305620,1,FLNA,"[ABP-280, actin binding protein 280, alpha filamin]",filamin A,gene with protein product,Xq28,The molecular basis of the disorder is known,Unknown,,300017,ENSG00000196924,,P21333,P21333,HGNC:3754 +GARD:0015294,Orphanet+OMIM,306400,OMIM:306400,1,CYBB,"[GP91-PHOX, NADPH oxidase 2, NOX2]",cytochrome b-245 beta chain,gene with protein product,Xp21.1-p11.4,The molecular basis of the disorder is known,Unknown,,300481,ENSG00000165168,objectId:3002,P04839,P04839,HGNC:2578 +GARD:0015297,Orphanet+OMIM,308205,OMIM:308205,1,MBTPS2,"[S2P, site-2 protease, sterol regulatory element-binding proteins intramembrane protease]","membrane bound transcription factor peptidase, site 2",gene with protein product,Xp22.12,The molecular basis of the disorder is known,Unknown,,300294,ENSG00000012174,,O43462,O43462,HGNC:15455 +GARD:0015298,Orphanet+OMIM,308350,OMIM:308350,1,ARX,"[CT121, EIEE1, ISSX, cancer/testis antigen 121]",aristaless related homeobox,gene with protein product,Xp21.3,The molecular basis of the disorder is known,Unknown,,300382,ENSG00000004848,,Q96QS3,,HGNC:18060 +GARD:0015299,Orphanet+OMIM,308800,OMIM:308800,1,MBTPS2,"[S2P, site-2 protease, sterol regulatory element-binding proteins intramembrane protease]","membrane bound transcription factor peptidase, site 2",gene with protein product,Xp22.12,The molecular basis of the disorder is known,Unknown,,300294,ENSG00000012174,,O43462,O43462,HGNC:15455 +GARD:0015300,Orphanet+OMIM,308905,OMIM:308905,1,PRICKLE3,,prickle planar cell polarity protein 3,gene with protein product,Xp11.23,The molecular basis of the disorder is known,Unknown,,300111,ENSG00000012211,,O43900,,HGNC:6645 +GARD:0015301,Orphanet+OMIM,308990,OMIM:308990,1,CLCN5,"[CLC5, ClC-5, DENTS, Dent disease, XLRH, XRN, hCIC-K2, hClC-K2]",chloride voltage-gated channel 5,gene with protein product,Xp11.23,The molecular basis of the disorder is known,Unknown,,300008,ENSG00000171365,objectId:704,P51795,P51795,HGNC:2023 +GARD:0015302,Orphanet+OMIM,309120,OMIM:309120,1,TEX11,"[MZIP4, Spo22, TGC1, TSGA3, ZIP4, ZIP4 homolog (S. cerevisiae), ZIP4H]",testis expressed 11,gene with protein product,Xq13.1,The molecular basis of the disorder is known,Unknown,,300311,ENSG00000120498,,Q8IYF3,,HGNC:11733 +GARD:0015304,Orphanet+OMIM,309800,OMIM:309800,1,NAA10,"[DXS707, TE2, arrest defective protein 1]","N-alpha-acetyltransferase 10, NatA catalytic subunit",gene with protein product,Xq28,The molecular basis of the disorder is known,Unknown,,300013,ENSG00000102030,,P41227,,HGNC:18704 +GARD:0015305,Orphanet+OMIM,310468,OMIM:310468,1,CLCN5,"[CLC5, ClC-5, DENTS, Dent disease, XLRH, XRN, hCIC-K2, hClC-K2]",chloride voltage-gated channel 5,gene with protein product,Xp11.23,The molecular basis of the disorder is known,Unknown,,300008,ENSG00000171365,objectId:704,P51795,P51795,HGNC:2023 +GARD:0015306,Orphanet+OMIM,310500,OMIM:310500,1,NYX,"[CLRP, CSNB1A]",nyctalopin,gene with protein product,Xp11.4,The molecular basis of the disorder is known,Unknown,,300278,ENSG00000188937,,Q9GZU5,,HGNC:8082 +GARD:0015308,Orphanet+OMIM,313350,OMIM:313350,1,SHFM2,[SHFD2],"Split hand/foot malformation, type (ectrodactyly) 2",unknown,Xq26,The disease phenotype itself was mapped,Unknown,,313350,,,,,GeneID:6463 +GARD:0015309,Orphanet+OMIM,314390,OMIM:314390,1,ZIC3,"[HTX, ZNF203]",Zic family member 3,gene with protein product,Xq26.3,The molecular basis of the disorder is known,Unknown,,300265,ENSG00000156925,,O60481,O60481,HGNC:12874 +GARD:0015310,Orphanet+OMIM,400004,OMIM:400004,1,RPY,,"Retinitis pigmentosa, Y-linked",unknown,Chr.Y,The disease phenotype itself was mapped,Unknown,,400004,,,,,GeneID:79051 +GARD:0015314,Orphanet+OMIM,600110,OMIM:600110,1,ELOVL4,"[CT118, cancer/testis antigen 118]",ELOVL fatty acid elongase 4,gene with protein product,6q14.1,The molecular basis of the disorder is known,Unknown,,605512,ENSG00000118402,,Q9GZR5,Q9GZR5,HGNC:14415 +GARD:0015315,Orphanet+OMIM,600155,OMIM:600155,1,EDNRB,[ETB],endothelin receptor type B,gene with protein product,13q22.3,The molecular basis of the disorder is known,Unknown,,131244,ENSG00000136160,objectId:220,P24530,P24530,HGNC:3180 +GARD:0015316,Orphanet+OMIM,600156,OMIM:600156,1,HSCR5,,"Hirschsprung disease, susceptibility to, 5",unknown,9q31,The disease phenotype itself was mapped,Unknown,,600156,,,,,GeneID:404720 +GARD:0015319,Orphanet+OMIM,600513,OMIM:600513,1,CHRNA4,"[BFNC, acetylcholine receptor, alpha 4 (neuronal), nicotinic]",cholinergic receptor nicotinic alpha 4 subunit,gene with protein product,20q13.33,The molecular basis of the disorder is known,Unknown,,118504,ENSG00000101204,objectId:465,P43681,P43681,HGNC:1958 +GARD:0015320,Orphanet+OMIM,600630,OMIM:600630,1,ERCC6,"[ARMD5, CSB, Cockayne syndrome B protein, RAD26]","ERCC excision repair 6, chromatin remodeling factor",gene with protein product,10q11.23,The molecular basis of the disorder is known,Unknown,,609413,ENSG00000225830,,"P0DP91, Q03468",,HGNC:3438 +GARD:0015321,Orphanet+OMIM,600638,OMIM:600638,1,TUBB3,"[CFEOM3, CFEOM3A, beta-4, class III beta-tubulin]",tubulin beta 3 class III,gene with protein product,16q24.3,The molecular basis of the disorder is known,Unknown,,602661,ENSG00000258947,objectId:2752,Q13509,Q13509,HGNC:20772 +GARD:0015322,Orphanet+OMIM,600795,OMIM:600795,1,CHMP2B,"[CHMP2.5, DKFZP564O123, VPS2 homolog B (S. cerevisiae), VPS2B]",charged multivesicular body protein 2B,gene with protein product,3p11.2,The molecular basis of the disorder is known,Unknown,,609512,ENSG00000083937,,Q9UQN3,Q9UQN3,HGNC:24537 +GARD:0015323,Orphanet+OMIM,600884,OMIM:600884,1,CMD1B,"[CMPD1, FDC]","Cardiomyopathy, dilated-1B, autosomal dominant",unknown,9q13,The disease phenotype itself was mapped,Unknown,,600884,,,,,GeneID:1218 +GARD:0015324,Orphanet+OMIM,600901,OMIM:600901,1,FANCE,[FAE],FA complementation group E,gene with protein product,6p21.31,The molecular basis of the disorder is known,Unknown,,613976,ENSG00000112039,,Q9HB96,Q9HB96,HGNC:3586 +GARD:0015326,Orphanet+OMIM,600995,OMIM:600995,1,NPHS2,"[PDCN, SRN1]","NPHS2 stomatin family member, podocin",gene with protein product,1q25.2,The molecular basis of the disorder is known,Unknown,,604766,ENSG00000116218,,Q9NP85,Q9NP85,HGNC:13394 +GARD:0015327,Orphanet+OMIM,601202,OMIM:601202,1,CTAA2,[CTRCT24],"Cataract 24, anterior polar",unknown,17p13,The disease phenotype itself was mapped,Unknown,,601202,,,,,GeneID:1484 +GARD:0015328,Orphanet+OMIM,601363,OMIM:601363,1,WT4,,Wilms tumor-4,unknown,17q12-q21,The disease phenotype itself was mapped,Unknown,,601363,,,,,GeneID:8151 +GARD:0015329,Orphanet+OMIM,601399,OMIM:601399,1,RUNX1,"[AMLCR1, PEBP2A2, aml1 oncogene]",RUNX family transcription factor 1,gene with protein product,21q22.12,The molecular basis of the disorder is known,Unknown,,151385,ENSG00000159216,,Q01196,Q01196,HGNC:10471 +GARD:0015330,Orphanet+OMIM,601462,OMIM:601462,1,CHRNA1,"[acetylcholine receptor, alpha 1 (muscle), nicotinic]",cholinergic receptor nicotinic alpha 1 subunit,gene with protein product,2q31.1,The molecular basis of the disorder is known,Unknown,,100690,ENSG00000138435,objectId:462,P02708,P02708,HGNC:1955 +GARD:0015331,Orphanet+OMIM,601493,OMIM:601493,1,LDB3,"[KIAA0613, PDLIM6, Z-band alternatively spliced PDZ motif protein, ZASP, cypher, oracle]",LIM domain binding 3,gene with protein product,10q23.2,The molecular basis of the disorder is known,Unknown,,605906,ENSG00000122367,,O75112,,HGNC:15710 +GARD:0015332,Orphanet+OMIM,601494,OMIM:601494,1,TNNT2,[CMPD2],"troponin T2, cardiac type",gene with protein product,1q32.1,The molecular basis of the disorder is known,Unknown,,191045,ENSG00000118194,,P45379,P45379,HGNC:11949 +GARD:0015334,Orphanet+OMIM,601518,OMIM:601518,1,RNASEL,,ribonuclease L,gene with protein product,1q25.3,The molecular basis of the disorder is known,Unknown,,180435,ENSG00000135828,,Q05823,Q05823,HGNC:10050 +GARD:0015335,Orphanet+OMIM,601547,OMIM:601547,1,CRYBB2,,crystallin beta B2,gene with protein product,22q11.23,The molecular basis of the disorder is known,Unknown,,123620,ENSG00000244752,,P43320,,HGNC:2398 +GARD:0015336,Orphanet+OMIM,601583,OMIM:601583,1,POU6F2,"[RPF-1, Retina-derived POU-domain factor-1]",POU class 6 homeobox 2,gene with protein product,7p14.1,The molecular basis of the disorder is known,Unknown,,609062,ENSG00000106536,,P78424,,HGNC:21694 +GARD:0015337,Orphanet+OMIM,601813,OMIM:601813,1,LRP5,"[BMND1, EVR4, HBM, LR3, OPS, OPTA1, VBCH2]",LDL receptor related protein 5,gene with protein product,11q13.2,The molecular basis of the disorder is known,Unknown,,603506,ENSG00000162337,,O75197,O75197,HGNC:6697 +GARD:0015340,Orphanet+OMIM,601992,OMIM:601992,1,FRDA2,,Friedreich ataxia 2,unknown,9p23-p11,The disease phenotype itself was mapped,Unknown,,601992,,,,,GeneID:2420 +GARD:0015341,Orphanet+OMIM,602078,OMIM:602078,1,PHOX2A,"[CFEOM2, PMX2A]",paired like homeobox 2A,gene with protein product,11q13.4,The molecular basis of the disorder is known,Unknown,,602753,ENSG00000165462,,O14813,,HGNC:691 +GARD:0015342,Orphanet+OMIM,602093,OMIM:602093,1,GUCA1A,"[COD3, CORD14, GCAP, GCAP1, cone dystrophy 3, dJ139D8.6]",guanylate cyclase activator 1A,gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,600364,ENSG00000048545,ligandId:9164,P43080,P43080,HGNC:4678 +GARD:0015343,Orphanet+OMIM,602099,OMIM:602099,1,SPG11,"[FLJ21439, spatacsin]","SPG11 vesicle trafficking associated, spatacsin",gene with protein product,15q21.1,The molecular basis of the disorder is known,Unknown,,610844,ENSG00000104133,,Q96JI7,,HGNC:11226 +GARD:0015346,Orphanet+OMIM,602483,OMIM:602483,1,GNAI3,"[87U6, Guanine nucleotide-binding protein G(k) subunit alpha]",G protein subunit alpha i3,gene with protein product,1p13.3,The molecular basis of the disorder is known,Unknown,,139370,ENSG00000065135,,P08754,P08754,HGNC:4387 +GARD:0015348,Orphanet+OMIM,602522,OMIM:602522,1,BSND,[BART],barttin CLCNK type accessory subunit beta,gene with protein product,1p32.3,The molecular basis of the disorder is known,Unknown,,606412,ENSG00000162399,,Q8WZ55,Q8WZ55,HGNC:16512 +GARD:0015349,Orphanet+OMIM,602540,OMIM:602540,1,GJB2,"[CX26, NSRD1, connexin 26]",gap junction protein beta 2,gene with protein product,13q12.11,The molecular basis of the disorder is known,Unknown,,121011,ENSG00000165474,objectId:716,P29033,P29033,HGNC:4284 +GARD:0015350,Orphanet+OMIM,602722,OMIM:602722,1,ATP6V0A4,"[RDRTA2, RTADR, Stv1, V-ATPase subunit a4, VPP2, Vph1, a4, vacuolar proton pump subunit 2]",ATPase H+ transporting V0 subunit a4,gene with protein product,7q34,The molecular basis of the disorder is known,Unknown,,605239,ENSG00000105929,objectId:826,Q9HBG4,Q9HBG4,HGNC:866 +GARD:0015351,Orphanet+OMIM,602759,OMIM:602759,1,PCAP,,Predisposing for prostate cancer,unknown,1q42.2-q43,The disease phenotype itself was mapped,Unknown,,602759,,,,,GeneID:7834 +GARD:0015352,Orphanet+OMIM,603204,OMIM:603204,1,ENFL2,,"Epilepsy, nocturnal frontal lobe, type 2",unknown,15q24,The disease phenotype itself was mapped,Unknown,,603204,,,,,GeneID:50971 +GARD:0015353,Orphanet+OMIM,603278,OMIM:603278,1,ACTN4,,actinin alpha 4,gene with protein product,19q13.2,The molecular basis of the disorder is known,Unknown,,604638,ENSG00000130402,,O43707,O43707,HGNC:166 +GARD:0015354,Orphanet+OMIM,603386,OMIM:603386,1,TCO,,"Thyroid carcinoma, nonmedullary, with cell oxyphilia",unknown,19p13.2,The disease phenotype itself was mapped,Unknown,,603386,,,,,GeneID:50975 +GARD:0015355,Orphanet+OMIM,603467,OMIM:603467,1,FANCF,[FAF],FA complementation group F,gene with protein product,11p14.3,The molecular basis of the disorder is known,Unknown,,613897,ENSG00000183161,,Q9NPI8,Q9NPI8,HGNC:3587 +GARD:0015356,Orphanet+OMIM,603649,OMIM:603649,1,RIMS1,"[KIAA0340, RIM, RIM1, Rab3-interacting molecule]",regulating synaptic membrane exocytosis 1,gene with protein product,6q13,The molecular basis of the disorder is known,Unknown,,606629,ENSG00000079841,,Q86UR5,Q86UR5,HGNC:17282 +GARD:0015357,Orphanet+OMIM,603688,OMIM:603688,1,EPHB2,"[Hek5, Tyro5]",EPH receptor B2,gene with protein product,1p36.12,The molecular basis of the disorder is known,Unknown,,600997,ENSG00000133216,objectId:1831,P29323,P29323,HGNC:3393 +GARD:0015359,Orphanet+OMIM,603786,OMIM:603786,1,PROM1,"[AC133, CD133, CORD12, RP41]",prominin 1,gene with protein product,4p15.32,The molecular basis of the disorder is known,Unknown,,604365,ENSG00000007062,,O43490,,HGNC:9454 +GARD:0015361,Orphanet+OMIM,603909,OMIM:603909,1,CASP10,"[FAS-associated death domain protein interleukin-1B-converting enzyme 2, FLICE-2, MCH4]",caspase 10,gene with protein product,2q33.1,The molecular basis of the disorder is known,Unknown,,601762,ENSG00000003400,objectId:1626,Q92851,Q92851,HGNC:1500 +GARD:0015362,Orphanet+OMIM,603965,OMIM:603965,1,TRPC6,[TRP6],transient receptor potential cation channel subfamily C member 6,gene with protein product,11q22.1,The molecular basis of the disorder is known,Unknown,,603652,ENSG00000137672,objectId:491,Q9Y210,Q9Y210,HGNC:12338 +GARD:0015363,Orphanet+OMIM,604145,OMIM:604145,1,TTN,"[CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD]",titin,gene with protein product,2q31.2,The molecular basis of the disorder is known,Unknown,,188840,ENSG00000155657,objectId:2265,Q8WZ42,Q8WZ42,HGNC:12403 +GARD:0015364,Orphanet+OMIM,604219,OMIM:604219,1,CRYAA,[HSPB4],crystallin alpha A,gene with protein product,21q22.3,The molecular basis of the disorder is known,Unknown,,123580,ENSG00000160202,,P02489,,HGNC:2388 +GARD:0015365,Orphanet+OMIM,604288,OMIM:604288,1,CMD1H,,"Cardiomyopathy, dilated, 1H",unknown,2q14-q22,The disease phenotype itself was mapped,Unknown,,604288,,,,,GeneID:23459 +GARD:0015366,Orphanet+OMIM,604317,OMIM:604317,1,WDR62,"[DKFZP434J046, FLJ33298]",WD repeat domain 62,gene with protein product,19q13.12,The molecular basis of the disorder is known,Unknown,,613583,ENSG00000075702,,O43379,,HGNC:24502 +GARD:0015367,Orphanet+OMIM,604321,OMIM:604321,1,KNL1,"[AF15Q14, CT29, D40, KIAA1570, PPP1R55, Spc7, blinkin, bub-linking kinetochore protein, cancer/testis antigen 29, hKNL-1, hSpc105, kinetochore null 1 homolog (C. elegans), protein phosphatase 1, regulatory subunit 55]",kinetochore scaffold 1,gene with protein product,15q15.1,The molecular basis of the disorder is known,Unknown,,609173,ENSG00000137812,,Q8NG31,Q8NG31,HGNC:24054 +GARD:0015368,Orphanet+OMIM,604348,OMIM:604348,1,PER2,[KIAA0347],period circadian regulator 2,gene with protein product,2q37.3,The molecular basis of the disorder is known,Unknown,,603426,ENSG00000132326,,O15055,O15055,HGNC:8846 +GARD:0015372,Orphanet+OMIM,604765,OMIM:604765,1,DES,"[CMD1I, CSM1, CSM2, intermediate filament protein]",desmin,gene with protein product,2q35,The molecular basis of the disorder is known,Unknown,,125660,ENSG00000175084,,P17661,P17661,HGNC:2770 +GARD:0015373,Orphanet+OMIM,604804,OMIM:604804,1,CDK5RAP2,"[C48, CEP215, FLJ10867, centrosomin]",CDK5 regulatory subunit associated protein 2,gene with protein product,9q33.2,The molecular basis of the disorder is known,Unknown,,608201,ENSG00000136861,,Q96SN8,Q96SN8,HGNC:18672 +GARD:0015374,Orphanet+OMIM,604928,OMIM:604928,1,CISD2,"[ERIS, Miner1, NAF-1, endoplasmic reticulum intermembrane small protein, mitoNEET related 1, nutrient-deprivation autophagy factor-1]",CDGSH iron sulfur domain 2,gene with protein product,4q24,The molecular basis of the disorder is known,Unknown,,611507,ENSG00000145354,,Q8N5K1,,HGNC:24212 +GARD:0015375,Orphanet+OMIM,604931,OMIM:604931,1,H6PD,"[6-phosphogluconolactonase, GDH/6PGL endoplasmic bifunctional protein, H6PDH]",hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase,gene with protein product,1p36.22,The molecular basis of the disorder is known,Unknown,,138090,ENSG00000049239,,O95479,,HGNC:4795 +GARD:0015376,Orphanet+OMIM,605019,OMIM:605019,1,ANGPTL3,[angiopoietin 5],angiopoietin like 3,gene with protein product,1p31.3,The molecular basis of the disorder is known,Unknown,,604774,ENSG00000132855,ligandId:8716,Q9Y5C1,Q9Y5C1,HGNC:491 +GARD:0015377,Orphanet+OMIM,605244,OMIM:605244,1,CNC2,,"Carney complex, type II",unknown,2p16,The disease phenotype itself was mapped,Unknown,,605244,,,,,GeneID:1257 +GARD:0015378,Orphanet+OMIM,605289,OMIM:605289,1,TP63,"[EEC3, KET, NBP, OFC8, SHFM4, p40, p51, p53CP, p63, p73H, p73L]",tumor protein p63,gene with protein product,3q28,The molecular basis of the disorder is known,Unknown,,603273,ENSG00000073282,,Q9H3D4,Q9H3D4,HGNC:15979 +GARD:0015379,Orphanet+OMIM,605293,OMIM:605293,1,OPA4,,Optic atrophy 4,unknown,18q12.2-q12.3,The disease phenotype itself was mapped,Unknown,,605293,,,,,GeneID:58156 +GARD:0015380,Orphanet+OMIM,605375,OMIM:605375,1,CHRNB2,"[acetylcholine receptor, beta 2 (neuronal), nicotinic]",cholinergic receptor nicotinic beta 2 subunit,gene with protein product,1q21.3,The molecular basis of the disorder is known,Unknown,,118507,ENSG00000160716,objectId:472,P17787,P17787,HGNC:1962 +GARD:0015381,Orphanet+OMIM,605549,OMIM:605549,1,CORD8,,Cone-rod dystrophy 8,unknown,1q12-q24,The disease phenotype itself was mapped,Unknown,,605549,,,,,GeneID:54109 +GARD:0015382,Orphanet+OMIM,605582,OMIM:605582,1,CMD1K,,"Cardiomyopathy, dilated, 1K",unknown,6q12-q16,The disease phenotype itself was mapped,Unknown,,605582,,,,,GeneID:65014 +GARD:0015383,Orphanet+OMIM,605594,OMIM:605594,1,DSPP,[DMP3],dentin sialophosphoprotein,gene with protein product,4q22.1,The molecular basis of the disorder is known,Unknown,,125485,ENSG00000152591,,Q9NZW4,Q9NZW4,HGNC:3054 +GARD:0015385,Orphanet+OMIM,605738,OMIM:605738,1,MCOPCB2,,"Microphthalmia, isolated, with coloboma 2",unknown,15q12-q15,The disease phenotype itself was mapped,Unknown,,605738,,,,,GeneID:80771 +GARD:0015386,Orphanet+OMIM,605750,OMIM:605750,1,EVR3,,Exudative vitreoretinopathy 3,unknown,11p13-p12,The disease phenotype itself was mapped,Unknown,,605750,,,,,GeneID:81864 +GARD:0015387,Orphanet+OMIM,605809,OMIM:605809,1,CHRNE,"[ACHRE, acetylcholine receptor, epsilon (muscle), nicotinic]",cholinergic receptor nicotinic epsilon subunit,gene with protein product,17p13.2,The molecular basis of the disorder is known,Unknown,,100725,ENSG00000108556,objectId:477,Q04844,Q04844,HGNC:1966 +GARD:0015388,Orphanet+OMIM,605841,OMIM:605841,1,NRCLP2,,Narcolepsy 2,unknown,4p13-q21,The disease phenotype itself was mapped,Unknown,,605841,,,,,GeneID:100918 +GARD:0015389,Orphanet+OMIM,606002,OMIM:606002,1,SETX,"[AOA2, KIAA0625, STEX, Sen1]",senataxin,gene with protein product,9q34.13,The molecular basis of the disorder is known,Unknown,,608465,ENSG00000107290,,Q7Z333,,HGNC:445 +GARD:0015390,Orphanet+OMIM,606164,OMIM:606164,1,RPS28,"[40S ribosomal protein S28, S28, eS28]",ribosomal protein S28,gene with protein product,19p13.2,The molecular basis of the disorder is known,Unknown,,603685,ENSG00000233927,,P62857,P62857,HGNC:10418 +GARD:0015391,Orphanet+OMIM,606240,OMIM:606240,1,NMTC3,,Nonmedullary thyroid carcinoma 3,unknown,2q21,The disease phenotype itself was mapped,Unknown,,606240,,,,,GeneID:114568 +GARD:0015393,Orphanet+OMIM,606545,OMIM:606545,1,ALOXE3,"[E-LOX, Epidermal lipoxygenase-3, eLOX3, hydroperoxide isomerase]",arachidonate lipoxygenase 3,gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,607206,ENSG00000179148,objectId:1390,Q9BYJ1,Q9BYJ1,HGNC:13743 +GARD:0015394,Orphanet+OMIM,606660,OMIM:606660,1,UVM1,,"Melanoma, uveal, susceptibility to, 1",unknown,3q24-q26,The disease phenotype itself was mapped,Unknown,,606660,,,,,GeneID:170592 +GARD:0015395,Orphanet+OMIM,606661,OMIM:606661,1,UVM2,,"Melanoma, uveal, susceptibility to, 2",unknown,3p25.2-p25.1,The disease phenotype itself was mapped,Unknown,,606661,,,,,GeneID:170593 +GARD:0015396,Orphanet+OMIM,606662,OMIM:606662,1,WS2C,,"Waardenburg syndrome, type 2C",unknown,8p23,The disease phenotype itself was mapped,Unknown,,606662,,,,,GeneID:170594 +GARD:0015397,Orphanet+OMIM,606685,OMIM:606685,1,SGCD,"[CMD1L, DAGD, LGMD2F]",sarcoglycan delta,gene with protein product,5q33.2-q33.3,The molecular basis of the disorder is known,Unknown,,601411,ENSG00000170624,,Q92629,,HGNC:10807 +GARD:0015398,Orphanet+OMIM,606708,OMIM:606708,1,SHFM5,,Split-hand/foot malformation 5,unknown,2q31,The disease phenotype itself was mapped,Unknown,,606708,,,,,GeneID:171157 +GARD:0015399,Orphanet+OMIM,606744,OMIM:606744,1,RBBP8,"[COM1, CTBP-interacting protein, CtIP, RIM]","RB binding protein 8, endonuclease",gene with protein product,18q11.2,The molecular basis of the disorder is known,Unknown,,604124,ENSG00000101773,,Q99708,Q99708,HGNC:9891 +GARD:0015400,Orphanet+OMIM,606763,OMIM:606763,1,DNAAF3,"[FLJ36139, FLJ40069, PCD, PF22]",dynein axonemal assembly factor 3,gene with protein product,19q13.42,The molecular basis of the disorder is known,Unknown,,614566,ENSG00000167646,,Q8N9W5,,HGNC:30492 +GARD:0015401,Orphanet+OMIM,606856,OMIM:606856,1,PALLD,"[CGI-151, KIAA0992, SIH002]","palladin, cytoskeletal associated protein",gene with protein product,4q32.3,The molecular basis of the disorder is known,Unknown,,608092,ENSG00000129116,,Q8WX93,,HGNC:17068 +GARD:0015402,Orphanet+OMIM,606874,OMIM:606874,1,HSCR6,,"Hirschsprung disease, susceptibility to, 6",unknown,3p21,The disease phenotype itself was mapped,Unknown,,606874,,,,,GeneID:246321 +GARD:0015403,Orphanet+OMIM,606875,OMIM:606875,1,HSCR7,,"Hirschsprung disease, susceptibility to, 7",unknown,19q12,The disease phenotype itself was mapped,Unknown,,606875,,,,,GeneID:246322 +GARD:0015404,Orphanet+OMIM,606943,OMIM:606943,1,USH1G,"[ANKS4A, FLJ33924, Sans]",USH1 protein network component sans,gene with protein product,17q25.1,The molecular basis of the disorder is known,Unknown,,607696,ENSG00000182040,,Q495M9,Q495M9,HGNC:16356 +GARD:0015405,Orphanet+OMIM,606995,OMIM:606995,1,SLSN3,,Senior-Loken syndrome 3,unknown,3q22,The disease phenotype itself was mapped,Unknown,,606995,,,,,GeneID:260432 +GARD:0015406,Orphanet+OMIM,606996,OMIM:606996,1,NPHP4,"[KIAA0673, POC10, POC10 centriolar protein homolog (Chlamydomonas), SLSN4, nephroretinin]",nephrocystin 4,gene with protein product,1p36.31,The molecular basis of the disorder is known,Unknown,,607215,ENSG00000131697,,O75161,O75161,HGNC:19104 +GARD:0015407,Orphanet+OMIM,607004,OMIM:607004,1,BDA1B,,"Brachydactyly, type A1, locus B",unknown,5p13.3-p13.2,The disease phenotype itself was mapped,Unknown,,607004,,,,,GeneID:246260 +GARD:0015408,Orphanet+OMIM,607086,OMIM:607086,1,AAT1,[FAA1],"Aortic aneurysm, familial thoracic 1",unknown,11q23.3-q24,The disease phenotype itself was mapped,Unknown,,607086,,,,,GeneID:252842 +GARD:0015409,Orphanet+OMIM,607087,OMIM:607087,1,AAT2,[FAA2],"Aortic aneurysm, familial thoracic 2",unknown,5q13-q14,The disease phenotype itself was mapped,Unknown,,607087,,,,,GeneID:252843 +GARD:0015410,Orphanet+OMIM,607151,OMIM:607151,1,RNF213,"[ALK lymphoma oligomerization partner on chromosome 17, ALO17, KIAA1554, NET57, mysterin]",ring finger protein 213,gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,613768,ENSG00000173821,,Q63HN8,Q63HN8,HGNC:14539 +GARD:0015411,Orphanet+OMIM,607326,OMIM:607326,1,DYM,"[DMC, FLJ20071, SMC]",dymeclin,gene with protein product,18q21.1,The molecular basis of the disorder is known,Unknown,,607461,ENSG00000141627,,Q7RTS9,,HGNC:21317 +GARD:0015412,Orphanet+OMIM,607398,OMIM:607398,1,MRAP,"[B27, FALP]",melanocortin 2 receptor accessory protein,gene with protein product,21q22.11,The molecular basis of the disorder is known,Unknown,,609196,ENSG00000170262,,Q8TCY5,,HGNC:1304 +GARD:0015413,Orphanet+OMIM,607482,OMIM:607482,1,CSRP3,"[CLP, CMD1M, MLP, cardiac LIM protein, muscle LIM protein]",cysteine and glycine rich protein 3,gene with protein product,11p15.1,The molecular basis of the disorder is known,Unknown,,600824,ENSG00000129170,,P50461,,HGNC:2472 +GARD:0015414,Orphanet+OMIM,607554,OMIM:607554,1,KCNQ1,"[JLNS1, Jervell and Lange-Nielsen syndrome 1, KCNA8, KVLQT1, Kv7.1, LQT1]",potassium voltage-gated channel subfamily Q member 1,gene with protein product,11p15.5-p15.4,The molecular basis of the disorder is known,Unknown,,607542,ENSG00000053918,objectId:560,P51787,P51787,HGNC:6294 +GARD:0015415,Orphanet+OMIM,607572,OMIM:607572,1,LPRS2,,"Leprosy, susceptibility to, 2",,6q25,The disease phenotype itself was mapped,Unknown,,607572,,,,,OMIM:607572 +GARD:0015416,Orphanet+OMIM,607596,OMIM:607596,1,VRK1,,VRK serine/threonine kinase 1,gene with protein product,14q32.2,The molecular basis of the disorder is known,Unknown,,602168,ENSG00000100749,objectId:2275,Q99986,Q99986,HGNC:12718 +GARD:0015417,Orphanet+OMIM,607602,OMIM:607602,2,KRT10,"[CK10, K10, cytokeratin 10, epidermolytic hyperkeratosis]",keratin 10,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,148080,ENSG00000186395,,P13645,P13645,HGNC:6413 +GARD:0015417,Orphanet+OMIM,607602,OMIM:607602,2,KRT1,[KRT1A],keratin 1,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,139350,ENSG00000167768,,P04264,P04264,HGNC:6412 +GARD:0015418,Orphanet+OMIM,607644,OMIM:607644,1,CANDN1,"[CANDF3, FCNC]","Candidiasis, familial, 3",unknown,11p13-q12,The disease phenotype itself was mapped,Unknown,,607644,,,,,GeneID:338434 +GARD:0015420,Orphanet+OMIM,607823,OMIM:607823,1,SOX18,,SRY-box transcription factor 18,gene with protein product,20q13.33,The molecular basis of the disorder is known,Unknown,,601618,ENSG00000203883,,P35713,,HGNC:11194 +GARD:0015421,Orphanet+OMIM,607829,OMIM:607829,1,DCHS1,"[CDHR6, FIB1, FLJ11790, KIAA1773, cadherin-related family member 6]",dachsous cadherin-related 1,gene with protein product,11p15.4,The molecular basis of the disorder is known,Unknown,,603057,ENSG00000166341,,Q96JQ0,,HGNC:13681 +GARD:0015422,Orphanet+OMIM,607832,OMIM:607832,1,CD2AP,"[CMS, Cas ligand with multiple Src homology (SH) 3 domains]",CD2 associated protein,gene with protein product,6p12.3,The molecular basis of the disorder is known,Unknown,,604241,ENSG00000198087,,Q9Y5K6,Q9Y5K6,HGNC:14258 +GARD:0015423,Orphanet+OMIM,607903,OMIM:607903,1,DSG4,"[CDHF13, LAH]",desmoglein 4,gene with protein product,18q12.1,The molecular basis of the disorder is known,Unknown,,607892,ENSG00000175065,,Q86SJ6,Q86SJ6,HGNC:21307 +GARD:0015424,Orphanet+OMIM,608097,OMIM:608097,1,ARFGEF2,"[BIG2, Brefeldin A-inhibited guanine nucleotide-exchange protein 2]",ADP ribosylation factor guanine nucleotide exchange factor 2,gene with protein product,20q13.13,The molecular basis of the disorder is known,Unknown,,605371,ENSG00000124198,,Q9Y6D5,Q9Y6D5,HGNC:15853 +GARD:0015425,Orphanet+OMIM,608098,OMIM:608098,1,PVNH3,,Periventricular nodular heterotopia 3,unknown,5p15.1,The disease phenotype itself was mapped,Unknown,,608098,,,,,GeneID:100302681 +GARD:0015426,Orphanet+OMIM,608194,OMIM:608194,1,RPGRIP1,"[CORD13, LCA6, RGI1]",RPGR interacting protein 1,gene with protein product,14q11.2,The molecular basis of the disorder is known,Unknown,,605446,ENSG00000092200,,Q96KN7,,HGNC:13436 +GARD:0015428,Orphanet+OMIM,608328,OMIM:608328,1,FBN1,"[MASS, Marfan syndrome, OCTD, SGS, asprosin]",fibrillin 1,gene with protein product,15q21.1,The molecular basis of the disorder is known,Unknown,,134797,ENSG00000166147,ligandId:9200,P35555,P35555,HGNC:3603 +GARD:0015429,Orphanet+OMIM,608358,OMIM:608358,1,MYH7,[CMD1S],myosin heavy chain 7,gene with protein product,14q11.2,The molecular basis of the disorder is known,Unknown,,160760,ENSG00000092054,,P12883,,HGNC:7577 +GARD:0015430,Orphanet+OMIM,608389,OMIM:608389,1,SIX1,,SIX homeobox 1,gene with protein product,14q23.1,The molecular basis of the disorder is known,Unknown,,601205,ENSG00000126778,,Q15475,,HGNC:10887 +GARD:0015431,Orphanet+OMIM,608393,OMIM:608393,1,CENPJ,"[BM032, CPAP, LAG-3-associated protein, LAP, LIP1, SASS4, SCKL4, Sas-4, Seckel syndrome 4, Spindle assembly abnormal 4, centrosomal P4.1-associated protein]",centromere protein J,gene with protein product,13q12.12-q12.13,The molecular basis of the disorder is known,Unknown,,609279,ENSG00000151849,,Q9HC77,Q9HC77,HGNC:17272 +GARD:0015432,Orphanet+OMIM,608462,OMIM:608462,1,HSCR8,,"Hirschsprung disease, susceptibility to, 8",unknown,16q23,The disease phenotype itself was mapped,Unknown,,608462,,,,,GeneID:404719 +GARD:0015434,Orphanet+OMIM,608569,OMIM:608569,1,ABCC9,"[CMD1O, SUR2, sulfonylurea receptor 2]",ATP binding cassette subfamily C member 9,gene with protein product,12p12.1,The molecular basis of the disorder is known,Unknown,,601439,ENSG00000069431,objectId:2746,O60706,O60706,HGNC:60 +GARD:0015435,Orphanet+OMIM,608629,OMIM:608629,1,AHI1,"[FLJ20069, JBTS3, Jouberin, ORF1]",Abelson helper integration site 1,gene with protein product,6q23.3,The molecular basis of the disorder is known,Unknown,,608894,ENSG00000135541,,Q8N157,Q8N157,HGNC:21575 +GARD:0015436,Orphanet+OMIM,608644,OMIM:608644,1,DNAH5,"[CILD3, Dnahc5, HL1, KTGNR, PCD, dynein heavy chain 5]",dynein axonemal heavy chain 5,gene with protein product,5p15.2,The molecular basis of the disorder is known,Unknown,,603335,ENSG00000039139,,Q8TE73,,HGNC:2950 +GARD:0015437,Orphanet+OMIM,608646,OMIM:608646,1,CILD4,,"Ciliary dyskinesia, primary, 4",unknown,15q13.1-q15.1,The disease phenotype itself was mapped,Unknown,,608646,,,,,GeneID:408257 +GARD:0015438,Orphanet+OMIM,608647,OMIM:608647,1,HYDIN,"[CILD5, DKFZp434D0513, KIAA1864, PPP1R31, protein phosphatase 1, regulatory subunit 31]",HYDIN axonemal central pair apparatus protein,gene with protein product,16q22.2,The molecular basis of the disorder is known,Unknown,,610812,ENSG00000157423,,Q4G0P3,,HGNC:19368 +GARD:0015439,Orphanet+OMIM,608656,OMIM:608656,1,HPC3,,"Prostate cancer, hereditary, 3",unknown,20q13,The disease phenotype itself was mapped,Unknown,,608656,,,,,GeneID:408259 +GARD:0015440,Orphanet+OMIM,608658,OMIM:608658,1,HPC4,,"Prostate cancer, hereditary, 4",unknown,7p11-q21,The disease phenotype itself was mapped,Unknown,,608658,,,,,GeneID:408260 +GARD:0015441,Orphanet+OMIM,608716,OMIM:608716,1,ASPM,"[ASP, Calmbp1, FLJ10517, FLJ10549]",assembly factor for spindle microtubules,gene with protein product,1q31.3,The molecular basis of the disorder is known,Unknown,,605481,ENSG00000066279,,Q8IZT6,,HGNC:19048 +GARD:0015442,Orphanet+OMIM,608796,OMIM:608796,1,MYMY3,,Moyamoya disease 3,unknown,8q23,The disease phenotype itself was mapped,Unknown,,608796,,,,,GeneID:493818 +GARD:0015443,Orphanet+OMIM,608816,OMIM:608816,1,EJM3,,"Epilepsy, juvenile myoclonic 3",unknown,6p21,The disease phenotype itself was mapped,Unknown,,608816,,,,,GeneID:449018 +GARD:0015444,Orphanet+OMIM,608890,OMIM:608890,1,SNAI2,"[SLUGH, SLUGH1, SNAIL2]",snail family transcriptional repressor 2,gene with protein product,8q11.21,The molecular basis of the disorder is known,Unknown,,602150,ENSG00000019549,,O43623,O43623,HGNC:11094 +GARD:0015445,Orphanet+OMIM,608930,OMIM:608930,1,CHRNA1,"[acetylcholine receptor, alpha 1 (muscle), nicotinic]",cholinergic receptor nicotinic alpha 1 subunit,gene with protein product,2q31.1,The molecular basis of the disorder is known,Unknown,,100690,ENSG00000138435,objectId:462,P02708,P02708,HGNC:1955 +GARD:0015446,Orphanet+OMIM,608988,OMIM:608988,1,ATFB2,,"Atrial fibrillation, familial, 2",unknown,6q14-q16,The disease phenotype itself was mapped,Unknown,,608988,,,,,GeneID:619478 +GARD:0015447,Orphanet+OMIM,609039,OMIM:609039,1,NRCLP3,,Narcolepsy 3,unknown,21q11.2,The disease phenotype itself was mapped,Unknown,,609039,,,,,GeneID:494446 +GARD:0015448,Orphanet+OMIM,609053,OMIM:609053,1,FANCI,[FLJ10719],FA complementation group I,gene with protein product,15q26.1,The molecular basis of the disorder is known,Unknown,,611360,ENSG00000140525,,Q9NVI1,Q9NVI1,HGNC:25568 +GARD:0015449,Orphanet+OMIM,609054,OMIM:609054,1,BRIP1,"[BACH1, BRCA1 interacting protein 1, BRCA1-associated C-terminal helicase, BRCA1/BRCA2-associated helicase 1, FANCJ, FANCJ helicase, OF]",BRCA1 interacting helicase 1,gene with protein product,17q23.2,The molecular basis of the disorder is known,Unknown,,605882,ENSG00000136492,,Q9BX63,Q9BX63,HGNC:20473 +GARD:0015450,Orphanet+OMIM,609197,OMIM:609197,1,GCCD3,"[FGD3, GCCD2]",Glucocorticoid deficiency 3,unknown,8q11.2-q13.2,The disease phenotype itself was mapped,Unknown,,609197,,,,,GeneID:619477 +GARD:0015451,Orphanet+OMIM,609254,OMIM:609254,1,IQCB1,"[KIAA0036, NPHP5, SLSN5, nephrocystin-5]",IQ motif containing B1,gene with protein product,3q13.33,The molecular basis of the disorder is known,Unknown,,609237,ENSG00000173226,,Q15051,Q15051,HGNC:28949 +GARD:0015452,Orphanet+OMIM,609273,OMIM:609273,1,KBTBD13,"[NEM6, hCG_1645727, nemaline myopathy type 6]",kelch repeat and BTB domain containing 13,gene with protein product,15q22.31,The molecular basis of the disorder is known,Unknown,,613727,ENSG00000234438,,C9JR72,C9JR72,HGNC:37227 +GARD:0015453,Orphanet+OMIM,609284,OMIM:609284,1,TPM3,[TRK],tropomyosin 3,gene with protein product,1q21.3,The molecular basis of the disorder is known,Unknown,,191030,ENSG00000143549,,P06753,P06753,HGNC:12012 +GARD:0015454,Orphanet+OMIM,609285,OMIM:609285,1,TPM2,"[DA1, NEM4, nemaline myopathy type 4]",tropomyosin 2,gene with protein product,9p13.3,The molecular basis of the disorder is known,Unknown,,190990,ENSG00000198467,,P07951,P07951,HGNC:12011 +GARD:0015455,Orphanet+OMIM,609299,OMIM:609299,1,HPC5,,"Prostate cancer, hereditary, 5",unknown,3p26,The disease phenotype itself was mapped,Unknown,,609299,,,,,GeneID:619402 +GARD:0015456,Orphanet+OMIM,609304,OMIM:609304,1,SLC25A22,"[EIEE3, Early infantile epileptic encephalopathy 3, FLJ13044, GC-1, GC1, NET44]",solute carrier family 25 member 22,gene with protein product,11p15.5,The molecular basis of the disorder is known,Unknown,,609302,ENSG00000177542,objectId:1058,Q9H936,Q9H936,HGNC:19954 +GARD:0015457,Orphanet+OMIM,609310,OMIM:609310,1,MLH1,"[FCC2, HNPCC, HNPCC2, MLH-1]",mutL homolog 1,gene with protein product,3p22.2,The molecular basis of the disorder is known,Unknown,,120436,ENSG00000076242,,P40692,P40692,HGNC:7127 +GARD:0015459,Orphanet+OMIM,609384,OMIM:609384,1,CFEOM3C,[FEOM4],"Fibrosis of extraocular muscles, congenital, 3C",,13q12.11,The disease phenotype itself was mapped,Unknown,,609384,,,,,OMIM:609384 +GARD:0015460,Orphanet+OMIM,609470,OMIM:609470,1,LVNC2,,Left ventricular noncompaction 2,unknown,11p15,The disease phenotype itself was mapped,Unknown,,609470,,,,,GeneID:619411 +GARD:0015461,Orphanet+OMIM,609508,OMIM:609508,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,The molecular basis of the disorder is known,Unknown,,120140,ENSG00000139219,ligandId:4899,P02458,P02458,HGNC:2200 +GARD:0015462,Orphanet+OMIM,609558,OMIM:609558,1,HPC6,,"Prostate cancer, hereditary, 6",unknown,22q12.3,The disease phenotype itself was mapped,Unknown,,609558,,,,,GeneID:100188789 +GARD:0015463,Orphanet+OMIM,609572,OMIM:609572,1,PPR2,,Photoparoxysmal response 2,unknown,13q31.3,The disease phenotype itself was mapped,Unknown,,609572,,,,,GeneID:780910 +GARD:0015464,Orphanet+OMIM,609573,OMIM:609573,1,PPR3,,Photoparoxysmal response 3,unknown,7q32,The disease phenotype itself was mapped,Unknown,,609573,,,,,GeneID:619471 +GARD:0015465,Orphanet+OMIM,609583,OMIM:609583,1,NPHP1,"[JBTS4, SLSN1]",nephrocystin 1,gene with protein product,2q13,The molecular basis of the disorder is known,Unknown,,607100,ENSG00000144061,,O15259,O15259,HGNC:7905 +GARD:0015467,Orphanet+OMIM,609630,OMIM:609630,1,CLLS1,,"Leukemia, chronic lymphocytic, susceptibility to, 1",unknown,11p11,The disease phenotype itself was mapped,Unknown,,609630,,,,,GeneID:100188791 +GARD:0015469,Orphanet+OMIM,609909,OMIM:609909,1,PLN,[CMD1P],phospholamban,gene with protein product,6q22.31,The molecular basis of the disorder is known,Unknown,,172405,ENSG00000198523,,P26678,P26678,HGNC:9080 +GARD:0015470,Orphanet+OMIM,609915,OMIM:609915,1,CMD1Q,,"Cardiomyopathy, dilated, 1Q",unknown,7q22.3-q31.1,The disease phenotype itself was mapped,Unknown,,609915,,,,,GeneID:664728 +GARD:0015471,Orphanet+OMIM,610092,OMIM:610092,1,VSX2,[RET1],visual system homeobox 2,gene with protein product,14q24.3,The molecular basis of the disorder is known,Unknown,,142993,ENSG00000119614,,P58304,,HGNC:1975 +GARD:0015472,Orphanet+OMIM,610181,OMIM:610181,1,RNASEH2B,[FLJ11712],ribonuclease H2 subunit B,gene with protein product,13q14.3,The molecular basis of the disorder is known,Unknown,,610326,ENSG00000136104,,Q5TBB1,,HGNC:25671 +GARD:0015473,Orphanet+OMIM,610185,OMIM:610185,1,WDR81,"[CAMRQ2, FLJ33817, PPP1R166, SORF-2, protein phosphatase 1, regulatory subunit 166]",WD repeat domain 81,gene with protein product,17p13.3,The molecular basis of the disorder is known,Unknown,,614218,ENSG00000167716,,Q562E7,Q562E7,HGNC:26600 +GARD:0015474,Orphanet+OMIM,610187,OMIM:610187,1,ZFPM2,"[FOG2, ZC2HC11B, ZNF89B, hFOG-2]","zinc finger protein, FOG family member 2",gene with protein product,8q23.1,The molecular basis of the disorder is known,Unknown,,603693,ENSG00000169946,,Q8WW38,Q8WW38,HGNC:16700 +GARD:0015475,Orphanet+OMIM,610188,OMIM:610188,1,CEP290,"[3H11Ag, BBS14, Bardet-Biedl syndrome 14, CT87, FLJ13615, JBTS5, Joubert syndrome 5, KIAA0373, LCA10, MKS4, Meckel syndrome, NPHP6, POC3, POC3 centriolar protein homolog (Chlamydomonas), SLSN6, cancer/testis antigen 87, nephrocystin-6, rd16, type 4]",centrosomal protein 290,gene with protein product,12q21.32,The molecular basis of the disorder is known,Unknown,,610142,ENSG00000198707,,O15078,O15078,HGNC:29021 +GARD:0015476,Orphanet+OMIM,610189,OMIM:610189,1,CEP290,"[3H11Ag, BBS14, Bardet-Biedl syndrome 14, CT87, FLJ13615, JBTS5, Joubert syndrome 5, KIAA0373, LCA10, MKS4, Meckel syndrome, NPHP6, POC3, POC3 centriolar protein homolog (Chlamydomonas), SLSN6, cancer/testis antigen 87, nephrocystin-6, rd16, type 4]",centrosomal protein 290,gene with protein product,12q21.32,The molecular basis of the disorder is known,Unknown,,610142,ENSG00000198707,,O15078,O15078,HGNC:29021 +GARD:0015477,Orphanet+OMIM,610283,OMIM:610283,1,SEMA4A,"[CORD10, FLJ12287, SemB]",semaphorin 4A,gene with protein product,1q22,The molecular basis of the disorder is known,Unknown,,607292,ENSG00000196189,,Q9H3S1,Q9H3S1,HGNC:10729 +GARD:0015478,Orphanet+OMIM,610321,OMIM:610321,1,HPC7,,"Prostate cancer, hereditary, 7",unknown,15q12,The disease phenotype itself was mapped,Unknown,,610321,,,,,GeneID:100188809 +GARD:0015479,Orphanet+OMIM,610329,OMIM:610329,1,RNASEH2C,"[AGS3, AYP1, Aicardi-Goutieres syndrome 3]",ribonuclease H2 subunit C,gene with protein product,11q13.1,The molecular basis of the disorder is known,Unknown,,610330,ENSG00000172922,,Q8TDP1,,HGNC:24116 +GARD:0015480,Orphanet+OMIM,610333,OMIM:610333,1,RNASEH2A,"[AGS4, RNASEHI, RNHIA, RNHL]",ribonuclease H2 subunit A,gene with protein product,19p13.13,The molecular basis of the disorder is known,Unknown,,606034,ENSG00000104889,,O75792,,HGNC:18518 +GARD:0015481,Orphanet+OMIM,610353,OMIM:610353,1,CHRNA2,"[acetylcholine receptor, alpha 2 (neuronal), nicotinic]",cholinergic receptor nicotinic alpha 2 subunit,gene with protein product,8p21.2,The molecular basis of the disorder is known,Unknown,,118502,ENSG00000120903,objectId:463,Q15822,Q15822,HGNC:1956 +GARD:0015482,Orphanet+OMIM,610374,OMIM:610374,1,ABCC8,"[ABC36, HHF1, HI, MRP8, PHHI, SUR1, TNDM2, sulfonylurea receptor (hyperinsulinemia)]",ATP binding cassette subfamily C member 8,gene with protein product,11p15.1,The molecular basis of the disorder is known,Unknown,,600509,ENSG00000006071,objectId:2594,Q09428,Q09428,HGNC:59 +GARD:0015483,Orphanet+OMIM,610379,OMIM:610379,1,CCR5,"[CC-CKR-5, CD195, CKR-5, CKR5, IDDM22]",C-C motif chemokine receptor 5,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,601373,ENSG00000160791,objectId:62,P51681,P51681,HGNC:1606 +GARD:0015484,Orphanet+OMIM,610381,OMIM:610381,1,RAX2,"[ARMD6, CORD11, MGC15631]",retina and anterior neural fold homeobox 2,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,610362,ENSG00000173976,,Q96IS3,,HGNC:18286 +GARD:0015485,Orphanet+OMIM,610427,OMIM:610427,1,CABP4,[CSNB2B],calcium binding protein 4,gene with protein product,11q13.2,The molecular basis of the disorder is known,Unknown,,608965,ENSG00000175544,,P57796,,HGNC:1386 +GARD:0015486,Orphanet+OMIM,610430,OMIM:610430,1,WM2,,"Macroglobulinemia, Waldenstrom, susceptibility to, 2",unknown,4q,The disease phenotype itself was mapped,Unknown,,610430,,,,,GeneID:100188811 +GARD:0015487,Orphanet+OMIM,610444,OMIM:610444,1,GNAT1,[CSNBAD3],G protein subunit alpha transducin 1,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,139330,ENSG00000114349,,P11488,P11488,HGNC:4393 +GARD:0015488,Orphanet+OMIM,610445,OMIM:610445,1,RHO,"[CSNBAD1, OPN2, opsin 2, rod pigment]",rhodopsin,gene with protein product,3q22.1,The molecular basis of the disorder is known,Unknown,,180380,ENSG00000163914,objectId:2963,P08100,P08100,HGNC:10012 +GARD:0015489,Orphanet+OMIM,610475,OMIM:610475,1,PDE11A,[Dual 3';5'-cyclic-AMP and -GMP phosphodiesterase 11A],phosphodiesterase 11A,gene with protein product,2q31.2,The molecular basis of the disorder is known,Unknown,,604961,ENSG00000128655,objectId:1311,Q9HCR9,Q9HCR9,HGNC:8773 +GARD:0015490,Orphanet+OMIM,610582,OMIM:610582,1,KCNJ11,"[ATP-sensitive inward rectifier potassium channel 11, BIR, Kir6.2, beta-cell inward rectifier]",potassium inwardly rectifying channel subfamily J member 11,gene with protein product,11p15.1,The molecular basis of the disorder is known,Unknown,,600937,ENSG00000187486,objectId:442,Q14654,Q14654,HGNC:6257 +GARD:0015492,Orphanet+OMIM,610685,OMIM:610685,1,SHFLD2,,Split-hand/foot malformation with long bone deficiency 2,unknown,6q14.1,The disease phenotype itself was mapped,Unknown,,610685,,,,,GeneID:791123 +GARD:0015493,Orphanet+OMIM,610687,OMIM:610687,1,CFL2,"[NEM7, nemaline myopathy type 7]",cofilin 2,gene with protein product,14q13.1,The molecular basis of the disorder is known,Unknown,,601443,ENSG00000165410,,Q9Y281,,HGNC:1875 +GARD:0015494,Orphanet+OMIM,610688,OMIM:610688,1,TMEM67,"[JBTS6, MGC26979, Meckelin, NPHP11]",transmembrane protein 67,gene with protein product,8q22.1,The molecular basis of the disorder is known,Unknown,,609884,ENSG00000164953,,Q5HYA8,Q5HYA8,HGNC:28396 +GARD:0015495,Orphanet+OMIM,610725,OMIM:610725,1,PLCE1,"[KIAA1516, NPHS3, PLCE, nephrosis type 3, phosphoinositide phospholipase C]",phospholipase C epsilon 1,gene with protein product,10q23.33,The molecular basis of the disorder is known,Unknown,,608414,ENSG00000138193,objectId:1412,Q9P212,Q9P212,HGNC:17175 +GARD:0015496,Orphanet+OMIM,610753,OMIM:610753,1,AA2,,Alopecia areata 2,unknown,16q11-q22,The disease phenotype itself was mapped,Unknown,,610753,,,,,GeneID:100034703 +GARD:0015497,Orphanet+OMIM,610756,OMIM:610756,1,ERCC2,"[EM9, MAG, MGC102762, MGC126218, MGC126219, TFIIH basal transcription factor complex helicase XPB subunit, complementation group 2 protein, excision repair cross-complementing rodent repair deficiency]","ERCC excision repair 2, TFIIH core complex helicase subunit",gene with protein product,19q13.32,The molecular basis of the disorder is known,Unknown,,126340,ENSG00000104884,,P18074,P18074,HGNC:3434 +GARD:0015498,Orphanet+OMIM,610758,OMIM:610758,1,ERCC1,[RAD10],"ERCC excision repair 1, endonuclease non-catalytic subunit",gene with protein product,19q13.32,The molecular basis of the disorder is known,Unknown,,126380,ENSG00000012061,,P07992,P07992,HGNC:3433 +GARD:0015499,Orphanet+OMIM,610759,OMIM:610759,1,SMC3,"[BAM, HCAP, SMC3L1, bamacan, bamacan proteoglycan]",structural maintenance of chromosomes 3,gene with protein product,10q25.2,The molecular basis of the disorder is known,Unknown,,606062,ENSG00000108055,,Q9UQE7,Q9UQE7,HGNC:2468 +GARD:0015500,Orphanet+OMIM,610832,OMIM:610832,1,PALB2,"[FANCN, FLJ21816, Fanconi anemia, complementation group N]",partner and localizer of BRCA2,gene with protein product,16p12.2,The molecular basis of the disorder is known,Unknown,,610355,ENSG00000083093,,Q86YC2,Q86YC2,HGNC:26144 +GARD:0015501,Orphanet+OMIM,610840,OMIM:610840,1,DZIP1,"[DZIP, KIAA0996]",DAZ interacting zinc finger protein 1,gene with protein product,13q32.1,The molecular basis of the disorder is known,Unknown,,608671,ENSG00000134874,,Q86YF9,Q86YF9,HGNC:20908 +GARD:0015502,Orphanet+OMIM,610852,OMIM:610852,1,NME8,"[CILD6, DNAI8, NM23-H8, SPTRX2, sperm-specific thioredoxin 2]",NME/NM23 family member 8,gene with protein product,7p14.1,The molecular basis of the disorder is known,Unknown,,607421,ENSG00000086288,,Q8N427,,HGNC:16473 +GARD:0015503,Orphanet+OMIM,610896,OMIM:610896,1,SIX5,,SIX homeobox 5,gene with protein product,19q13.32,The molecular basis of the disorder is known,Unknown,,600963,ENSG00000177045,,Q8N196,,HGNC:10891 +GARD:0015504,Orphanet+OMIM,610988,OMIM:610988,1,LTA,"[LT, TNF superfamily member 1, TNFSF1]",lymphotoxin alpha,gene with protein product,6p21.33,The molecular basis of the disorder is known,Unknown,,153440,ENSG00000226979,ligandId:5064,P01374,P01374,HGNC:6709 +GARD:0015505,Orphanet+OMIM,610997,OMIM:610997,2,HPC9,,"Prostate cancer, hereditary, 9",,17q21-q22,The disease phenotype itself was mapped,Unknown,,610997,,,,,OMIM:610997 +GARD:0015505,Orphanet+OMIM,610997,OMIM:610997,2,HOXB13,,homeobox B13,gene with protein product,17q21.32,The molecular basis of the disorder is known,Unknown,,604607,ENSG00000159184,,Q92826,,HGNC:5112 +GARD:0015506,Orphanet+OMIM,611031,OMIM:611031,1,EKD2,,Episodic kinesigenic dyskinesia 2,unknown,16q13-q22.1,The disease phenotype itself was mapped,Unknown,,611031,,,,,GeneID:100124415 +GARD:0015507,Orphanet+OMIM,611100,OMIM:611100,1,HPC10,,"Prostate cancer, hereditary, 10",unknown,8q24,The disease phenotype itself was mapped,Unknown,,611100,,,,,GeneID:100188834 +GARD:0015508,Orphanet+OMIM,611131,OMIM:611131,1,NR2E3,"[PNR, RP37, rd7]",nuclear receptor subfamily 2 group E member 3,gene with protein product,15q23,The molecular basis of the disorder is known,Unknown,,604485,ENSG00000278570,objectId:616,Q9Y5X4,Q9Y5X4,HGNC:7974 +GARD:0015509,Orphanet+OMIM,611134,OMIM:611134,1,CEP290,"[3H11Ag, BBS14, Bardet-Biedl syndrome 14, CT87, FLJ13615, JBTS5, Joubert syndrome 5, KIAA0373, LCA10, MKS4, Meckel syndrome, NPHP6, POC3, POC3 centriolar protein homolog (Chlamydomonas), SLSN6, cancer/testis antigen 87, nephrocystin-6, rd16, type 4]",centrosomal protein 290,gene with protein product,12q21.32,The molecular basis of the disorder is known,Unknown,,610142,ENSG00000198707,,O15078,O15078,HGNC:29021 +GARD:0015510,Orphanet+OMIM,611147,OMIM:611147,1,PNKD2,,Paroxysmal nonkinesigenic dyskinesia 2,unknown,2q31,The disease phenotype itself was mapped,Unknown,,611147,,,,,GeneID:100188328 +GARD:0015511,Orphanet+OMIM,611263,OMIM:611263,1,IFT80,"[CFAP167, FAP167, KIAA1374]",intraflagellar transport 80,gene with protein product,3q25.33,The molecular basis of the disorder is known,Unknown,,611177,ENSG00000068885,,Q9P2H3,Q9P2H3,HGNC:29262 +GARD:0015512,Orphanet+OMIM,611363,OMIM:611363,1,TBX20,,T-box transcription factor 20,gene with protein product,7p14.2,The molecular basis of the disorder is known,Unknown,,606061,ENSG00000164532,,Q9UMR3,,HGNC:11598 +GARD:0015513,Orphanet+OMIM,611364,OMIM:611364,1,EJM4,,"Myoclonic epilepsy, juvenile, 4",unknown,5q12-q14,The disease phenotype itself was mapped,Unknown,,611364,,,,,GeneID:100126594 +GARD:0015514,Orphanet+OMIM,611383,OMIM:611383,1,WHRN,"[CIP98, PDZD7B, USH2D]",whirlin,gene with protein product,9q32,The molecular basis of the disorder is known,Unknown,,607928,ENSG00000095397,,Q9P202,Q9P202,HGNC:16361 +GARD:0015515,Orphanet+OMIM,611407,OMIM:611407,1,VCL,[metavinculin],vinculin,gene with protein product,10q22.2,The molecular basis of the disorder is known,Unknown,,193065,ENSG00000035403,,P18206,P18206,HGNC:12665 +GARD:0015516,Orphanet+OMIM,611493,OMIM:611493,1,KCNE2,"[LQT6, MiRP1]",potassium voltage-gated channel subfamily E regulatory subunit 2,gene with protein product,21q22.11,The molecular basis of the disorder is known,Unknown,,603796,ENSG00000159197,,Q9Y6J6,Q9Y6J6,HGNC:6242 +GARD:0015517,Orphanet+OMIM,611494,OMIM:611494,1,ATFB5,,"Atrial fibrillation, familial, 5",unknown,4q25,The disease phenotype itself was mapped,Unknown,,611494,,,,,GeneID:100188842 +GARD:0015518,Orphanet+OMIM,611554,OMIM:611554,1,RAF1,"[C-Raf proto-oncogene, CRAF, Raf-1, c-Raf, serine/threonine kinase]","Raf-1 proto-oncogene, serine/threonine kinase",gene with protein product,3p25.2,The molecular basis of the disorder is known,Unknown,,164760,ENSG00000132155,objectId:2184,P04049,P04049,HGNC:9829 +GARD:0015519,Orphanet+OMIM,611560,OMIM:611560,1,RPGRIP1L,"[CORS3, FTM, JBTS7, KIAA1005, MKS5, Meckel syndrome, NPHP8, PPP1R134, fantom homolog, protein phosphatase 1, regulatory subunit 134, type 5]",RPGRIP1 like,gene with protein product,16q12.2,The molecular basis of the disorder is known,Unknown,,610937,ENSG00000103494,,Q68CZ1,Q68CZ1,HGNC:29168 +GARD:0015520,Orphanet+OMIM,611561,OMIM:611561,1,RPGRIP1L,"[CORS3, FTM, JBTS7, KIAA1005, MKS5, Meckel syndrome, NPHP8, PPP1R134, fantom homolog, protein phosphatase 1, regulatory subunit 134, type 5]",RPGRIP1 like,gene with protein product,16q12.2,The molecular basis of the disorder is known,Unknown,,610937,ENSG00000103494,,Q68CZ1,Q68CZ1,HGNC:29168 +GARD:0015521,Orphanet+OMIM,611584,OMIM:611584,1,SOX10,"[DOM, SOX-10, WS2E, WS4, dominant megacolon, human homolog of, mouse]",SRY-box transcription factor 10,gene with protein product,22q13.1,The molecular basis of the disorder is known,Unknown,,602229,ENSG00000100146,,P56693,P56693,HGNC:11190 +GARD:0015522,Orphanet+OMIM,611615,OMIM:611615,1,FKTN,[LGMD2M],fukutin,gene with protein product,9q31.2,The molecular basis of the disorder is known,Unknown,,607440,ENSG00000106692,,O75072,,HGNC:3622 +GARD:0015523,Orphanet+OMIM,611631,OMIM:611631,1,ETL4,[ETOLM],"Epilepsy, familial temporal lobe, 4",unknown,9q21-q22,The disease phenotype itself was mapped,Unknown,,611631,,,,,GeneID:100144434 +GARD:0015524,Orphanet+OMIM,611638,OMIM:611638,1,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,The molecular basis of the disorder is known,Unknown,,600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0015525,Orphanet+OMIM,611644,OMIM:611644,1,HSCR9,,"Hirschsprung disease, susceptibility to, 9",unknown,4q31.3-q32.3,The disease phenotype itself was mapped,Unknown,,611644,,,,,GeneID:100188850 +GARD:0015526,Orphanet+OMIM,611777,OMIM:611777,1,GPD1L,[KIAA0089],glycerol-3-phosphate dehydrogenase 1 like,gene with protein product,3p22.3,The molecular basis of the disorder is known,Unknown,,611778,ENSG00000152642,,Q8N335,Q8N335,HGNC:28956 +GARD:0015527,Orphanet+OMIM,611788,OMIM:611788,1,ACTA2,[ACTSA],"actin alpha 2, smooth muscle",gene with protein product,10q23.31,The molecular basis of the disorder is known,Unknown,,102620,ENSG00000107796,,P62736,P62736,HGNC:130 +GARD:0015528,Orphanet+OMIM,611804,OMIM:611804,1,EPB41,[4.1R],erythrocyte membrane protein band 4.1,gene with protein product,1p35.3,The molecular basis of the disorder is known,Unknown,,130500,ENSG00000159023,objectId:3151,P11171,P11171,HGNC:3377 +GARD:0015529,Orphanet+OMIM,611868,OMIM:611868,1,EHBP1,"[KIAA0903, NACSIN]",EH domain binding protein 1,gene with protein product,2p15,The molecular basis of the disorder is known,Unknown,,609922,ENSG00000115504,,Q8NDI1,,HGNC:29144 +GARD:0015530,Orphanet+OMIM,611878,OMIM:611878,1,TPM1,,tropomyosin 1,gene with protein product,15q22.2,The molecular basis of the disorder is known,Unknown,,191010,ENSG00000140416,,P09493,P09493,HGNC:12010 +GARD:0015531,Orphanet+OMIM,611879,OMIM:611879,1,TNNC1,,"troponin C1, slow skeletal and cardiac type",gene with protein product,3p21.1,The molecular basis of the disorder is known,Unknown,,191040,ENSG00000114854,,P63316,P63316,HGNC:11943 +GARD:0015532,Orphanet+OMIM,611880,OMIM:611880,1,TNNI3,"[CMH7, TNNC1, cTNI]","troponin I3, cardiac type",gene with protein product,19q13.42,The molecular basis of the disorder is known,Unknown,,191044,ENSG00000129991,,P19429,P19429,HGNC:11947 +GARD:0015533,Orphanet+OMIM,611884,OMIM:611884,1,DNAH11,"[CILD7, DNAHBL, DNAHC11, DNHBL, DPL11, Dnahc11, ciliary, dynein, dynein, heavy chain 11, heavy chain beta-like]",dynein axonemal heavy chain 11,gene with protein product,7p15.3,The molecular basis of the disorder is known,Unknown,,603339,ENSG00000105877,,Q96DT5,,HGNC:2942 +GARD:0015534,Orphanet+OMIM,611928,OMIM:611928,1,MSMB,"[IGBF, MSP, MSPB, PN44, PRPS, PSP, PSP-94, PSP57, PSP94, beta-microseminoprotein]",microseminoprotein beta,gene with protein product,10q11.22,The molecular basis of the disorder is known,Unknown,,157145,ENSG00000263639,ligandId:10541,P08118,,HGNC:7372 +GARD:0015535,Orphanet+OMIM,611938,OMIM:611938,1,CASQ2,[PDIB2],calsequestrin 2,gene with protein product,1p13.1,The molecular basis of the disorder is known,Unknown,,114251,ENSG00000118729,,O14958,O14958,HGNC:1513 +GARD:0015536,Orphanet+OMIM,611955,OMIM:611955,1,HPC11,,"Prostate cancer, hereditary, 11",,17q12,The disease phenotype itself was mapped,Unknown,,611955,,,,,OMIM:611955 +GARD:0015537,Orphanet+OMIM,611958,OMIM:611958,1,HPC14,,"Prostate cancer, hereditary, 14",unknown,11q13,The disease phenotype itself was mapped,Unknown,,611958,,,,,GeneID:100188867 +GARD:0015538,Orphanet+OMIM,611959,OMIM:611959,1,HPC15,,"Prostate cancer, hereditary, 15",unknown,19q13.4,The disease phenotype itself was mapped,Unknown,,611959,,,,,GeneID:100188868 +GARD:0015539,Orphanet+OMIM,612016,OMIM:612016,1,COQ8A,"[COQ8, SCAR9, coenzyme Q8 homolog (yeast)]",coenzyme Q8A,gene with protein product,1q42.13,The molecular basis of the disorder is known,Unknown,,606980,ENSG00000163050,objectId:1927,Q8NI60,,HGNC:16812 +GARD:0015540,Orphanet+OMIM,612069,OMIM:612069,1,TARDBP,"[ALS10, TDP-43]",TAR DNA binding protein,gene with protein product,1p36.22,The molecular basis of the disorder is known,Unknown,,605078,ENSG00000120948,,Q13148,,HGNC:11571 +GARD:0015541,Orphanet+OMIM,612076,OMIM:612076,1,SLC2A9,"[GLUTX, Glut9, URATv1, urate voltage-driven efflux transporter 1]",solute carrier family 2 member 9,gene with protein product,4p16.1,The molecular basis of the disorder is known,Unknown,,606142,ENSG00000109667,objectId:882,Q9NRM0,Q9NRM0,HGNC:13446 +GARD:0015542,Orphanet+OMIM,612132,OMIM:612132,1,NFKBIA,"[IKBA, IkappaBalpha, MAD-3, NF-kappa-B inhibitor alpha]",NFKB inhibitor alpha,gene with protein product,14q13.2,The molecular basis of the disorder is known,Unknown,,164008,ENSG00000100906,,P25963,P25963,HGNC:7797 +GARD:0015543,Orphanet+OMIM,612158,OMIM:612158,1,ACTN2,,actinin alpha 2,gene with protein product,1q43,The molecular basis of the disorder is known,Unknown,,102573,ENSG00000077522,,P35609,P35609,HGNC:164 +GARD:0015544,Orphanet+OMIM,612201,OMIM:612201,1,NPPA,,natriuretic peptide A,gene with protein product,1p36.22,The molecular basis of the disorder is known,Unknown,,108780,ENSG00000175206,ligandId:4869,P01160,P01160,HGNC:7939 +GARD:0015545,Orphanet+OMIM,612240,OMIM:612240,1,KCNA5,"[HK2, HPCN1, Kv1.5]",potassium voltage-gated channel subfamily A member 5,gene with protein product,12p13.32,The molecular basis of the disorder is known,Unknown,,176267,ENSG00000130037,objectId:542,P22460,P22460,HGNC:6224 +GARD:0015546,Orphanet+OMIM,612274,OMIM:612274,1,CILD8,,"Ciliary dyskinesia, primary, 8",unknown,15q24-q25,The disease phenotype itself was mapped,Unknown,,612274,,,,,GeneID:100190786 +GARD:0015547,Orphanet+OMIM,612281,OMIM:612281,1,NIPAL4,"[ICHYN, SLC57A6, ichthyin]",NIPA like domain containing 4,gene with protein product,5q33.3,The molecular basis of the disorder is known,Unknown,,609383,ENSG00000172548,objectId:3038,Q0D2K0,Q0D2K0,HGNC:28018 +GARD:0015548,Orphanet+OMIM,612284,OMIM:612284,1,CC2D2A,"[JBTS9, KIAA1345, MKS6, Meckel syndrome, type 6]",coiled-coil and C2 domain containing 2A,gene with protein product,4p15.32,The molecular basis of the disorder is known,Unknown,,612013,ENSG00000048342,,Q9P2K1,Q9P2K1,HGNC:29253 +GARD:0015549,Orphanet+OMIM,612285,OMIM:612285,1,CC2D2A,"[JBTS9, KIAA1345, MKS6, Meckel syndrome, type 6]",coiled-coil and C2 domain containing 2A,gene with protein product,4p15.32,The molecular basis of the disorder is known,Unknown,,612013,ENSG00000048342,,Q9P2K1,Q9P2K1,HGNC:29253 +GARD:0015550,Orphanet+OMIM,612291,OMIM:612291,1,ARL13B,"[DKFZp761H079, JBTS8]",ADP ribosylation factor like GTPase 13B,gene with protein product,3q11.1-q11.2,The molecular basis of the disorder is known,Unknown,,608922,ENSG00000169379,,Q3SXY8,Q3SXY8,HGNC:25419 +GARD:0015551,Orphanet+OMIM,612293,OMIM:612293,1,POROK5,[DSAP3],"Porokeratosis 5, disseminated superficial actinic",unknown,1p31.3-p31.1,The disease phenotype itself was mapped,Unknown,,612293,,,,,GeneID:100190982 +GARD:0015552,Orphanet+OMIM,612353,OMIM:612353,1,POROK6,[DSAP4],Porokeratosis 6,unknown,18p11.3,The disease phenotype itself was mapped,Unknown,,612353,,,,,GeneID:100196911 +GARD:0015553,Orphanet+OMIM,612389,OMIM:612389,1,TSEN2,"[MGC2776, SEN2, SEN2L]",tRNA splicing endonuclease subunit 2,gene with protein product,3p25.2,The molecular basis of the disorder is known,Unknown,,608753,ENSG00000154743,,Q8NCE0,Q8NCE0,HGNC:28422 +GARD:0015554,Orphanet+OMIM,612390,OMIM:612390,1,TSEN34,"[SEN34, SEN34L]",tRNA splicing endonuclease subunit 34,gene with protein product,19q13.42,The molecular basis of the disorder is known,Unknown,,608754,ENSG00000170892,,Q9BSV6,Q9BSV6,HGNC:15506 +GARD:0015555,Orphanet+OMIM,612417,OMIM:612417,1,NRCLP4,,Narcolepsy 4,unknown,22q13,The disease phenotype itself was mapped,Unknown,,612417,,,,,GeneID:100216484 +GARD:0015556,Orphanet+OMIM,612437,OMIM:612437,1,PRICKLE1,"[EPM1B, FLJ31937, REST/NRSF interacting LIM domain protein, RILP]",prickle planar cell polarity protein 1,gene with protein product,12q12,The molecular basis of the disorder is known,Unknown,,608500,ENSG00000139174,,Q96MT3,Q96MT3,HGNC:17019 +GARD:0015557,Orphanet+OMIM,612438,OMIM:612438,1,TUBB4A,"[beta-5, class IVa beta-tubulin]",tubulin beta 4A class IVa,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,602662,ENSG00000104833,,P04350,P04350,HGNC:20774 +GARD:0015558,Orphanet+OMIM,612444,OMIM:612444,1,DNAI2,"[CILD9, DIC2, dynein intermediate chain 2]",dynein axonemal intermediate chain 2,gene with protein product,17q25.1,The molecular basis of the disorder is known,Unknown,,605483,ENSG00000171595,,Q9GZS0,,HGNC:18744 +GARD:0015559,Orphanet+OMIM,612469,OMIM:612469,1,WAGRO,[DEL11p14p12],"Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome",,11p13-p12,The disorder is a chromosome deletion or duplication syndrome,Unknown,,612469,,,,,OMIM:612469 +GARD:0015560,Orphanet+OMIM,612518,OMIM:612518,1,DNAAF2,"[CILD10, FLJ10563, KTU, PF13, kintoun]",dynein axonemal assembly factor 2,gene with protein product,14q21.3,The molecular basis of the disorder is known,Unknown,,612517,ENSG00000165506,,Q9NVR5,,HGNC:20188 +GARD:0015561,Orphanet+OMIM,612527,OMIM:612527,1,RPS17,"[MGC72007, RPS17L1, RPS17L2, S17]",ribosomal protein S17,gene with protein product,15q25.2,The molecular basis of the disorder is known,Unknown,,180472,ENSG00000182774,,P08708,P08708,HGNC:10397 +GARD:0015562,Orphanet+OMIM,612528,OMIM:612528,1,RPL35A,"[GIG33, L35A, eL33]",ribosomal protein L35a,gene with protein product,3q29,The molecular basis of the disorder is known,Unknown,,180468,ENSG00000182899,,P18077,P18077,HGNC:10345 +GARD:0015563,Orphanet+OMIM,612529,OMIM:612529,1,MMP20,[enamelysin],matrix metallopeptidase 20,gene with protein product,11q22.2,The molecular basis of the disorder is known,Unknown,,604629,ENSG00000137674,objectId:1643,O60882,O60882,HGNC:7167 +GARD:0015564,Orphanet+OMIM,612551,OMIM:612551,1,APOL1,,apolipoprotein L1,gene with protein product,22q12.3,The molecular basis of the disorder is known,Unknown,,603743,ENSG00000100342,,O14791,O14791,HGNC:618 +GARD:0015565,Orphanet+OMIM,612557,OMIM:612557,1,CLLS3,,"Leukemia, chronic lymphocytic, susceptibility to, 3",unknown,9q34.1,The disease phenotype itself was mapped,Unknown,,612557,,,,,GeneID:100270642 +GARD:0015566,Orphanet+OMIM,612558,OMIM:612558,1,CLLS4,,"Leukemia, chronic lymphocytic susceptibility to, 4",unknown,6p25,The disease phenotype itself was mapped,Unknown,,612558,,,,,GeneID:100270643 +GARD:0015567,Orphanet+OMIM,612559,OMIM:612559,1,CLLS5,,"Leukemia, chronic lymphocytic susceptibility to, 5",unknown,11q24.1,The disease phenotype itself was mapped,Unknown,,612559,,,,,GeneID:100270644 +GARD:0015568,Orphanet+OMIM,612561,OMIM:612561,1,RPL5,"[L5, PPP1R135, protein phosphatase 1, regulatory subunit 135, uL18]",ribosomal protein L5,gene with protein product,1p22.1,The molecular basis of the disorder is known,Unknown,,603634,ENSG00000122406,,P46777,P46777,HGNC:10360 +GARD:0015569,Orphanet+OMIM,612562,OMIM:612562,1,RPL11,"[60S ribosomal protein L11, L11, uL5]",ribosomal protein L11,gene with protein product,1p36.11,The molecular basis of the disorder is known,Unknown,,604175,ENSG00000142676,,P62913,P62913,HGNC:10301 +GARD:0015570,Orphanet+OMIM,612563,OMIM:612563,1,RPS7,"[S7, eS7]",ribosomal protein S7,gene with protein product,2p25.3,The molecular basis of the disorder is known,Unknown,,603658,ENSG00000171863,,P62081,P62081,HGNC:10440 +GARD:0015571,Orphanet+OMIM,612572,OMIM:612572,1,IDH3B,[RP46],isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta,gene with protein product,20p13,The molecular basis of the disorder is known,Unknown,,604526,ENSG00000101365,,O43837,O43837,HGNC:5385 +GARD:0015572,Orphanet+OMIM,612576,OMIM:612576,1,SHFLD3,"[C17DUPp13.3, DUP17p13.3]",Split-hand/foot malformation with long bone deficiency 3,,17p13.3-p13.1,The disorder is a chromosome deletion or duplication syndrome,Unknown,,612576,,,,,OMIM:612576 +GARD:0015573,Orphanet+OMIM,612632,OMIM:612632,1,USH1H,,"Usher syndrome, type 1H",unknown,15q22-q23,The disease phenotype itself was mapped,Unknown,,612632,,,,,GeneID:100271837 +GARD:0015574,Orphanet+OMIM,612649,OMIM:612649,1,RSPH4A,"[CILD11, FLJ37974, RSPH6B, dJ412I7.1]",radial spoke head component 4A,gene with protein product,6q22.1,The molecular basis of the disorder is known,Unknown,,612647,ENSG00000111834,,Q5TD94,,HGNC:21558 +GARD:0015575,Orphanet+OMIM,612650,OMIM:612650,1,RSPH9,"[CILD12, FLJ30845]",radial spoke head component 9,gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,612648,ENSG00000172426,,Q9H1X1,,HGNC:21057 +GARD:0015576,Orphanet+OMIM,612653,OMIM:612653,1,SLC4A1,"[Band 3 anion transport protein, CD233, EMPB3, FR, Froese blood group, RTA1A, SW, Swann blood group, WR, Wright blood group]",solute carrier family 4 member 1 (Diego blood group),gene with protein product,17q21.31,The molecular basis of the disorder is known,Unknown,,109270,ENSG00000004939,objectId:904,P02730,P02730,HGNC:11027 +GARD:0015577,Orphanet+OMIM,612657,OMIM:612657,1,PROM1,"[AC133, CD133, CORD12, RP41]",prominin 1,gene with protein product,4p15.32,The molecular basis of the disorder is known,Unknown,,604365,ENSG00000007062,,O43490,,HGNC:9454 +GARD:0015578,Orphanet+OMIM,612690,OMIM:612690,1,EPB42,"[Erythrocyte surface protein band 4.2, MGC116735, MGC116737, PA]",erythrocyte membrane protein band 4.2,gene with protein product,15q15.2,The molecular basis of the disorder is known,Unknown,,177070,ENSG00000166947,,P16452,,HGNC:3381 +GARD:0015579,Orphanet+OMIM,612692,OMIM:612692,1,CD79B,"[B-cell antigen receptor complex-associated protein beta chain, B29, Ig-beta, Igbeta]",CD79b molecule,gene with protein product,17q23.3,The molecular basis of the disorder is known,Unknown,,147245,ENSG00000007312,objectId:2852,P40259,P40259,HGNC:1699 +GARD:0015580,Orphanet+OMIM,612703,OMIM:612703,1,STIL,[MCPH7],STIL centriolar assembly protein,gene with protein product,1p33,The molecular basis of the disorder is known,Unknown,,181590,ENSG00000123473,,Q15468,,HGNC:10879 +GARD:0015581,Orphanet+OMIM,612715,OMIM:612715,1,DUH2,,Dyschromatosis universalis hereditaria 2,unknown,12q21-q23,The disease phenotype itself was mapped,Unknown,,612715,,,,,GeneID:100301525 +GARD:0015582,Orphanet+OMIM,612775,OMIM:612775,1,ADAM9,"[KIAA0021, MCMP, MDC9, Mltng, meltrin gamma]",ADAM metallopeptidase domain 9,gene with protein product,8p11.22,The molecular basis of the disorder is known,Unknown,,602713,ENSG00000168615,objectId:1657,Q13443,Q13443,HGNC:216 +GARD:0015583,Orphanet+OMIM,612798,OMIM:612798,1,EDN1,[ET1],endothelin 1,gene with protein product,6p24.1,The molecular basis of the disorder is known,Unknown,,131240,ENSG00000078401,ligandId:989,P05305,P05305,HGNC:3176 +GARD:0015584,Orphanet+OMIM,612838,OMIM:612838,1,SCN1B,,sodium voltage-gated channel beta subunit 1,gene with protein product,19q13.11,The molecular basis of the disorder is known,Unknown,,600235,ENSG00000105711,,Q07699,Q07699,HGNC:10586 +GARD:0015585,Orphanet+OMIM,612841,OMIM:612841,2,HYPT5,[MUHH2],Hypotrichosis 5,,1p21.1-q21.3,The disease phenotype itself was mapped,Unknown,,612841,,,,,OMIM:612841 +GARD:0015585,Orphanet+OMIM,612841,OMIM:612841,2,EPS8L3,"[FLJ21522, MGC16817]",EPS8 like 3,gene with protein product,1p13.3,The molecular basis of the disorder is known,Unknown,,614989,ENSG00000198758,,Q8TE67,,HGNC:21297 +GARD:0015587,Orphanet+OMIM,612851,OMIM:612851,1,NRCLP5,,Narcolepsy 5,unknown,14q11.2,The disease phenotype itself was mapped,Unknown,,612851,,,,,GeneID:100302514 +GARD:0015588,Orphanet+OMIM,612877,OMIM:612877,1,DSG2,[CDHF5],desmoglein 2,gene with protein product,18q12.1,The molecular basis of the disorder is known,Unknown,,125671,ENSG00000046604,,Q14126,Q14126,HGNC:3049 +GARD:0015589,Orphanet+OMIM,612881,OMIM:612881,1,PVNH5,,Periventricular nodular heterotopia 5,,5q14.3-q15,The disorder is a chromosome deletion or duplication syndrome,Unknown,,612881,,,,,OMIM:612881 +GARD:0015590,Orphanet+OMIM,612908,OMIM:612908,1,DSP,"[DPI, DPII, KPPS2, PPKS2]",desmoplakin,gene with protein product,6p24.3,The molecular basis of the disorder is known,Unknown,,125647,ENSG00000096696,,P15924,P15924,HGNC:3052 +GARD:0015591,Orphanet+OMIM,612921,OMIM:612921,1,OBSL1,[KIAA0657],obscurin like cytoskeletal adaptor 1,gene with protein product,2q35,The molecular basis of the disorder is known,Unknown,,610991,ENSG00000124006,,O75147,O75147,HGNC:29092 +GARD:0015592,Orphanet+OMIM,612936,OMIM:612936,1,AP4M1,"[AP-4 adapter complex mu subunit, MU-4, MU-ARP2, SPG50, adaptor-related protein complex AP-4 mu4 subunit, mu subunit of AP-4, mu-adaptin-related protein-2]",adaptor related protein complex 4 subunit mu 1,gene with protein product,7q22.1,The molecular basis of the disorder is known,Unknown,,602296,ENSG00000221838,,O00189,O00189,HGNC:574 +GARD:0015593,Orphanet+OMIM,612943,OMIM:612943,1,KLHL7,"[KLHL6, RP42, SBBI26, retinitis pigmentosa 42]",kelch like family member 7,gene with protein product,7p15.3,The molecular basis of the disorder is known,Unknown,,611119,ENSG00000122550,,Q8IXQ5,,HGNC:15646 +GARD:0015595,Orphanet+OMIM,612955,OMIM:612955,1,SNTA1,"[59kDa, LQT12, TACIP1, acidic component, dystrophin-associated protein A1, pro-TGF-alpha cytoplasmic domain-interacting protein 1]",syntrophin alpha 1,gene with protein product,20q11.21,The molecular basis of the disorder is known,Unknown,,601017,ENSG00000101400,,Q13424,,HGNC:11167 +GARD:0015596,Orphanet+OMIM,612956,OMIM:612956,1,DPP6,"[DPL1, DPPX]",dipeptidyl peptidase like 6,gene with protein product,7q36.2,The molecular basis of the disorder is known,Unknown,,126141,ENSG00000130226,,P42658,,HGNC:3010 +GARD:0015597,Orphanet+OMIM,612961,OMIM:612961,1,FGF9,[glia-activating factor],fibroblast growth factor 9,gene with protein product,13q12.11,The molecular basis of the disorder is known,Unknown,,600921,ENSG00000102678,ligandId:4930,P31371,P31371,HGNC:3687 +GARD:0015598,Orphanet+OMIM,612965,OMIM:612965,1,NR5A1,"[AD4BP, ELP, FTZ1, SF-1, SF1, hSF-1, steroidogenic factor 1]",nuclear receptor subfamily 5 group A member 1,gene with protein product,9q33.3,The molecular basis of the disorder is known,Unknown,,184757,ENSG00000136931,objectId:632,Q13285,Q13285,HGNC:7983 +GARD:0015599,Orphanet+OMIM,612968,OMIM:612968,1,FOXE3,[FREAC8],forkhead box E3,gene with protein product,1p33,The molecular basis of the disorder is known,Unknown,,601094,ENSG00000186790,,Q13461,,HGNC:3808 +GARD:0015600,Orphanet+OMIM,613002,OMIM:613002,1,TLR3,[CD283],toll like receptor 3,gene with protein product,4q35.1,The molecular basis of the disorder is known,Unknown,,603029,ENSG00000164342,objectId:1753,O15455,O15455,HGNC:11849 +GARD:0015601,Orphanet+OMIM,613007,OMIM:613007,1,PBC2,,"Biliary cirrhosis, primary, 2",unknown,6p21.3,The disease phenotype itself was mapped,Unknown,,613007,,,,,GeneID:100303716 +GARD:0015602,Orphanet+OMIM,613008,OMIM:613008,1,PBC3,,"Biliary cirrhosis, primary, 3",unknown,1p31.2,The disease phenotype itself was mapped,Unknown,,613008,,,,,GeneID:100303717 +GARD:0015603,Orphanet+OMIM,613013,OMIM:613013,1,PHOX2B,[NBPhox],paired like homeobox 2B,gene with protein product,4p13,The molecular basis of the disorder is known,Unknown,,603851,ENSG00000109132,,Q99453,,HGNC:9143 +GARD:0015604,Orphanet+OMIM,613014,OMIM:613014,1,ALK,"[ALK1, CD246]",ALK receptor tyrosine kinase,gene with protein product,2p23.2-p23.1,The molecular basis of the disorder is known,Unknown,,105590,ENSG00000171094,objectId:1839,Q9UM73,Q9UM73,HGNC:427 +GARD:0015605,Orphanet+OMIM,613015,OMIM:613015,1,NBLST4,,"Neuroblastoma, susceptibility to, 4",unknown,6p22,The disease phenotype itself was mapped,Unknown,,613015,,,,,GeneID:100306937 +GARD:0015606,Orphanet+OMIM,613016,OMIM:613016,1,NBLST5,,"Neuroblastoma, susceptibility to, 5",unknown,2q35,The disease phenotype itself was mapped,Unknown,,613016,,,,,GeneID:100306938 +GARD:0015607,Orphanet+OMIM,613017,OMIM:613017,1,NBLST6,,"Neuroblastoma, susceptibility to, 6",unknown,1q21.1,The disease phenotype itself was mapped,Unknown,,613017,,,,,GeneID:100306939 +GARD:0015608,Orphanet+OMIM,613024,OMIM:613024,1,FL1,,"Follicular lymphoma, susceptibility to, 1",unknown,6p21.33,The disease phenotype itself was mapped,Unknown,,613024,,,,,GeneID:100306940 +GARD:0015609,Orphanet+OMIM,613055,OMIM:613055,1,ATFB8,,"Atrial fibrillation, familial, 8",unknown,16q22,The disease phenotype itself was mapped,Unknown,,613055,,,,,GeneID:100306979 +GARD:0015610,Orphanet+OMIM,613073,OMIM:613073,1,MMP9,,matrix metallopeptidase 9,gene with protein product,20q13.12,The molecular basis of the disorder is known,Unknown,,120361,ENSG00000100985,objectId:1633,P14780,P14780,HGNC:7176 +GARD:0015611,Orphanet+OMIM,613080,OMIM:613080,1,CBX2,"[M33, MGC10561, Pc class homolog (Drosophila)]",chromobox 2,gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,602770,ENSG00000173894,,Q14781,Q14781,HGNC:1552 +GARD:0015612,Orphanet+OMIM,613090,OMIM:613090,2,CLCNKB,[hClC-Kb],chloride voltage-gated channel Kb,gene with protein product,1p36.13,The molecular basis of the disorder is known,Unknown,,602023,ENSG00000184908,objectId:701,P51801,P51801,HGNC:2027 +GARD:0015612,Orphanet+OMIM,613090,OMIM:613090,2,CLCNKA,[hClC-Ka],chloride voltage-gated channel Ka,gene with protein product,1p36.13,The molecular basis of the disorder is known,Unknown,,602024,ENSG00000186510,objectId:700,P51800,P51800,HGNC:2026 +GARD:0015613,Orphanet+OMIM,613091,OMIM:613091,1,DYNC2H1,"[DHC1b, DHC2, DYH1B, hdhc11]",dynein cytoplasmic 2 heavy chain 1,gene with protein product,11q22.3,The molecular basis of the disorder is known,Unknown,,603297,ENSG00000187240,,Q8NCM8,Q8NCM8,HGNC:2962 +GARD:0015614,Orphanet+OMIM,613101,OMIM:613101,1,STXBP2,"[Hunc18b, MUNC18-2, UNC18B, Unc18-2]",syntaxin binding protein 2,gene with protein product,19p13.2,The molecular basis of the disorder is known,Unknown,,601717,ENSG00000076944,,Q15833,Q15833,HGNC:11445 +GARD:0015615,Orphanet+OMIM,613105,OMIM:613105,1,PRPH2,"[CACD2, TSPAN22, central areolar 2, choroidal dystrophy, rd2, retinal peripherin, tetraspanin-22]",peripherin 2,gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,179605,ENSG00000112619,,P23942,,HGNC:9942 +GARD:0015616,Orphanet+OMIM,613107,OMIM:613107,1,GFI1,"[GFI-1, GFI1A]",growth factor independent 1 transcriptional repressor,gene with protein product,1p22.1,The molecular basis of the disorder is known,Unknown,,600871,ENSG00000162676,,Q99684,Q99684,HGNC:4237 +GARD:0015617,Orphanet+OMIM,613108,OMIM:613108,1,CLEC7A,"[CD369, DECTIN-1, SCARE2, hDectin-1]",C-type lectin domain containing 7A,gene with protein product,12p13.2,The molecular basis of the disorder is known,Unknown,,606264,ENSG00000172243,objectId:2927,Q9BXN2,Q9BXN2,HGNC:14558 +GARD:0015618,Orphanet+OMIM,613115,OMIM:613115,1,RETREG1,"[FLJ20152, JK1]",reticulophagy regulator 1,gene with protein product,5p15.1,The molecular basis of the disorder is known,Unknown,,613114,ENSG00000154153,,Q9H6L5,,HGNC:25964 +GARD:0015619,Orphanet+OMIM,613119,OMIM:613119,1,KCNE3,"[HOKPP, MiRP2]",potassium voltage-gated channel subfamily E regulatory subunit 3,gene with protein product,11q13.4,The molecular basis of the disorder is known,Unknown,,604433,ENSG00000175538,,Q9Y6H6,Q9Y6H6,HGNC:6243 +GARD:0015620,Orphanet+OMIM,613120,OMIM:613120,1,SCN3B,"[HSA243396, SCNB3]",sodium voltage-gated channel beta subunit 3,gene with protein product,11q24.1,The molecular basis of the disorder is known,Unknown,,608214,ENSG00000166257,,Q9NY72,Q9NY72,HGNC:20665 +GARD:0015621,Orphanet+OMIM,613122,OMIM:613122,1,NEXN,"[NELIN, nexilin]",nexilin F-actin binding protein,gene with protein product,1p31.1,The molecular basis of the disorder is known,Unknown,,613121,ENSG00000162614,,Q0ZGT2,,HGNC:29557 +GARD:0015622,Orphanet+OMIM,613123,OMIM:613123,1,HCN4,,hyperpolarization activated cyclic nucleotide gated potassium channel 4,gene with protein product,15q24.1,The molecular basis of the disorder is known,Unknown,,605206,ENSG00000138622,objectId:403,Q9Y3Q4,Q9Y3Q4,HGNC:16882 +GARD:0015624,Orphanet+OMIM,613150,OMIM:613150,1,POMT2,"[Dolichyl-phosphate-mannose--protein mannosyltransferase, LGMD2N]",protein O-mannosyltransferase 2,gene with protein product,14q24.3,The molecular basis of the disorder is known,Unknown,,607439,ENSG00000009830,,Q9UKY4,Q9UKY4,HGNC:19743 +GARD:0015625,Orphanet+OMIM,613153,OMIM:613153,1,FKRP,"[FKTR, LGMD2I, MDC1C]",fukutin related protein,gene with protein product,19q13.32,The molecular basis of the disorder is known,Unknown,,606596,ENSG00000181027,,Q9H9S5,,HGNC:17997 +GARD:0015626,Orphanet+OMIM,613154,OMIM:613154,1,LARGE1,"[KIAA0609, like-acetylglucosaminyltransferase]",LARGE xylosyl- and glucuronyltransferase 1,gene with protein product,22q12.3,The molecular basis of the disorder is known,Unknown,,603590,ENSG00000133424,,O95461,O95461,HGNC:6511 +GARD:0015627,Orphanet+OMIM,613172,OMIM:613172,1,RBM20,,RNA binding motif protein 20,gene with protein product,10q25.2,The molecular basis of the disorder is known,Unknown,,613171,ENSG00000203867,,Q5T481,,HGNC:27424 +GARD:0015628,Orphanet+OMIM,613193,OMIM:613193,1,DNAAF1,"[CILD13, DAU1, FLJ25330, ODA7, outer row dynein assembly 7 homolog (Chlamydomonas), swt]",dynein axonemal assembly factor 1,gene with protein product,16q24.1,The molecular basis of the disorder is known,Unknown,,613190,ENSG00000154099,,Q8NEP3,,HGNC:30539 +GARD:0015629,Orphanet+OMIM,613194,OMIM:613194,1,BEST1,"[BEST, BMD, Best disease, RP50]",bestrophin 1,gene with protein product,11q12.3,The molecular basis of the disorder is known,Unknown,,607854,ENSG00000167995,,O76090,O76090,HGNC:12703 +GARD:0015630,Orphanet+OMIM,613211,OMIM:613211,1,WDR72,[FLJ38736],WD repeat domain 72,gene with protein product,15q21.3,The molecular basis of the disorder is known,Unknown,,613214,ENSG00000166415,,Q3MJ13,,HGNC:26790 +GARD:0015631,Orphanet+OMIM,613216,OMIM:613216,1,TRPM1,"[CSNB1C, LTRPC1]",transient receptor potential cation channel subfamily M member 1,gene with protein product,15q13.3,The molecular basis of the disorder is known,Unknown,,603576,ENSG00000134160,objectId:493,Q7Z4N2,Q7Z4N2,HGNC:7146 +GARD:0015632,Orphanet+OMIM,613223,OMIM:613223,1,TLR1,"[CD281, KIAA0012, rsc786]",toll like receptor 1,gene with protein product,4p14,The molecular basis of the disorder is known,Unknown,,601194,ENSG00000174125,objectId:1751,Q15399,Q15399,HGNC:11847 +GARD:0015633,Orphanet+OMIM,613225,OMIM:613225,1,F13A1,,coagulation factor XIII A chain,gene with protein product,6p25.1,The molecular basis of the disorder is known,Unknown,,134570,ENSG00000124491,,P00488,P00488,HGNC:3531 +GARD:0015634,Orphanet+OMIM,613227,OMIM:613227,1,CA8,[CARP],carbonic anhydrase 8,gene with protein product,8q12.1,The molecular basis of the disorder is known,Unknown,,114815,ENSG00000178538,,P35219,,HGNC:1382 +GARD:0015635,Orphanet+OMIM,613235,OMIM:613235,1,F13B,[FXIIIB],coagulation factor XIII B chain,gene with protein product,1q31.3,The molecular basis of the disorder is known,Unknown,,134580,ENSG00000143278,,P05160,P05160,HGNC:3534 +GARD:0015636,Orphanet+OMIM,613237,OMIM:613237,1,INF2,[MGC13251],inverted formin 2,gene with protein product,14q32.33,The molecular basis of the disorder is known,Unknown,,610982,ENSG00000203485,,Q27J81,,HGNC:23791 +GARD:0015637,Orphanet+OMIM,613239,OMIM:613239,1,KCNJ18,"[KIR2.6, TTPP2]",potassium inwardly rectifying channel subfamily J member 18,gene with protein product,17p11.2,The molecular basis of the disorder is known,Unknown,,613236,ENSG00000260458,,B7U540,,HGNC:39080 +GARD:0015638,Orphanet+OMIM,613244,OMIM:613244,1,EPCAM,"[17-1A, 323/A3, Ber-Ep4, BerEp4, CD326, CO-17A, EGP-2, EGP34, EGP40, ESA, Ep-CAM, GA733-2, HEA125, KS1/4, KSA, Ly74, MH99, MK-1, MOC-31, MOC31, TACST-1, TROP1, trophoblast cell surface antigen 1]",epithelial cell adhesion molecule,gene with protein product,2p21,The molecular basis of the disorder is known,Unknown,,185535,ENSG00000119888,,P16422,P16422,HGNC:11529 +GARD:0015639,Orphanet+OMIM,613252,OMIM:613252,1,MYH6,"[cardiomyopathy, hypertrophic 1]",myosin heavy chain 6,gene with protein product,14q11.2,The molecular basis of the disorder is known,Unknown,,160710,ENSG00000197616,,P13533,P13533,HGNC:7576 +GARD:0015640,Orphanet+OMIM,613254,OMIM:613254,2,IFNG,,interferon gamma,gene with protein product,12q15,The molecular basis of the disorder is known,Unknown,,147570,ENSG00000111537,ligandId:4968,P01579,P01579,HGNC:5438 +GARD:0015640,Orphanet+OMIM,613254,OMIM:613254,2,TSC2,"[LAM, PPP1R160, protein phosphatase 1, regulatory subunit 160, tuberin]",TSC complex subunit 2,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,191092,ENSG00000103197,,P49815,P49815,HGNC:12363 +GARD:0015641,Orphanet+OMIM,613265,OMIM:613265,1,EDN3,[ET3],endothelin 3,gene with protein product,20q13.32,The molecular basis of the disorder is known,Unknown,,131242,ENSG00000124205,ligandId:1004,P14138,P14138,HGNC:3178 +GARD:0015642,Orphanet+OMIM,613266,OMIM:613266,1,SOX10,"[DOM, SOX-10, WS2E, WS4, dominant megacolon, human homolog of, mouse]",SRY-box transcription factor 10,gene with protein product,22q13.1,The molecular basis of the disorder is known,Unknown,,602229,ENSG00000100146,,P56693,P56693,HGNC:11190 +GARD:0015643,Orphanet+OMIM,613286,OMIM:613286,1,TNNI3,"[CMH7, TNNC1, cTNI]","troponin I3, cardiac type",gene with protein product,19q13.42,The molecular basis of the disorder is known,Unknown,,191044,ENSG00000129991,,P19429,P19429,HGNC:11947 +GARD:0015644,Orphanet+OMIM,613308,OMIM:613308,1,RPS10,"[MGC88819, S10]",ribosomal protein S10,gene with protein product,6p21.31,The molecular basis of the disorder is known,Unknown,,603632,ENSG00000124614,,P46783,P46783,HGNC:10383 +GARD:0015645,Orphanet+OMIM,613309,OMIM:613309,1,RPS26,"[40S ribosomal protein S26, S26, eS26]",ribosomal protein S26,gene with protein product,12q13.2,The molecular basis of the disorder is known,Unknown,,603701,ENSG00000197728,,P62854,P62854,HGNC:10414 +GARD:0015646,Orphanet+OMIM,613310,OMIM:613310,1,TSPAN12,[NET-2],tetraspanin 12,gene with protein product,7q31.31,The molecular basis of the disorder is known,Unknown,,613138,ENSG00000106025,,O95859,,HGNC:21641 +GARD:0015647,Orphanet+OMIM,613313,OMIM:613313,1,HAMP,"[HEPC, HFE2B, LEAP-1, LEAP1]",hepcidin antimicrobial peptide,gene with protein product,19q13.12,The molecular basis of the disorder is known,Unknown,,606464,ENSG00000105697,ligandId:5378,P81172,,HGNC:15598 +GARD:0015648,Orphanet+OMIM,613318,OMIM:613318,1,MMD2,,Miyoshi muscular dystrophy 2,unknown,8q22.3,The disease phenotype itself was mapped,Unknown,,613318,,,,,GeneID:100505381 +GARD:0015649,Orphanet+OMIM,613345,OMIM:613345,1,SCN4A,"[HYPP, Nav1.4, SkM1]",sodium voltage-gated channel alpha subunit 4,gene with protein product,17q23.3,The molecular basis of the disorder is known,Unknown,,603967,ENSG00000007314,objectId:581,P35499,P35499,HGNC:10591 +GARD:0015650,Orphanet+OMIM,613347,OMIM:613347,1,BRCA2,"[BRCA1/BRCA2-containing complex, BRCC2, FAD, FAD1, XRCC11, subunit 2]",BRCA2 DNA repair associated,gene with protein product,13q13.1,The molecular basis of the disorder is known,Unknown,,600185,ENSG00000139618,,P51587,P51587,HGNC:1101 +GARD:0015651,Orphanet+OMIM,613348,OMIM:613348,1,PALB2,"[FANCN, FLJ21816, Fanconi anemia, complementation group N]",partner and localizer of BRCA2,gene with protein product,16p12.2,The molecular basis of the disorder is known,Unknown,,610355,ENSG00000083093,,Q86YC2,Q86YC2,HGNC:26144 +GARD:0015652,Orphanet+OMIM,613370,OMIM:613370,1,INS,,insulin,gene with protein product,11p15.5,The molecular basis of the disorder is known,Unknown,,176730,ENSG00000254647,ligandId:6145,P01308,P01308,HGNC:6081 +GARD:0015653,Orphanet+OMIM,613375,OMIM:613375,1,BLK,[MGC10442],"BLK proto-oncogene, Src family tyrosine kinase",gene with protein product,8p23.1,The molecular basis of the disorder is known,Unknown,,191305,ENSG00000136573,objectId:1940,P51451,P51451,HGNC:1057 +GARD:0015654,Orphanet+OMIM,613382,OMIM:613382,1,PTHLH,"[HHM, PLP, PTHR, PTHRP, osteostatin, parathyroid hormone-like hormone preproprotein, parathyroid hormone-related protein preproprotein]",parathyroid hormone like hormone,gene with protein product,12p11.22,The molecular basis of the disorder is known,Unknown,,168470,ENSG00000087494,ligandId:3738,P12272,P12272,HGNC:9607 +GARD:0015655,Orphanet+OMIM,613388,OMIM:613388,1,SLC34A1,"[NAPI-3, NPTIIa, Na+-phosphate cotransporter type II, SLC11, member 2, sodium/phosphate co-transporter, solute carrier family 17 (sodium phosphate)]",solute carrier family 34 member 1,gene with protein product,5q35.3,The molecular basis of the disorder is known,Unknown,,182309,ENSG00000131183,objectId:1135,Q06495,Q06495,HGNC:11019 +GARD:0015656,Orphanet+OMIM,613390,OMIM:613390,1,RAD51C,"[FANCO, RAD51L2]",RAD51 paralog C,gene with protein product,17q22,The molecular basis of the disorder is known,Unknown,,602774,ENSG00000108384,,O43502,O43502,HGNC:9820 +GARD:0015657,Orphanet+OMIM,613399,OMIM:613399,1,RAD51C,"[FANCO, RAD51L2]",RAD51 paralog C,gene with protein product,17q22,The molecular basis of the disorder is known,Unknown,,602774,ENSG00000108384,,O43502,O43502,HGNC:9820 +GARD:0015658,Orphanet+OMIM,613404,OMIM:613404,1,VIPAS39,"[SPE-39, SPE39, Spermatogenesis-defective protein 39 homolog, VIPAR, VPS16B, VPS33B interacting protein, apical-basolateral polarity regulator, hSPE-39]","VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog",gene with protein product,14q24.3,The molecular basis of the disorder is known,Unknown,,613401,ENSG00000151445,,Q9H9C1,,HGNC:20347 +GARD:0015659,Orphanet+OMIM,613407,OMIM:613407,1,LPRS6,,"Leprosy, susceptibility to, 6",unknown,13q14.11,The disease phenotype itself was mapped,Unknown,,613407,,,,,GeneID:100499166 +GARD:0015660,Orphanet+OMIM,613411,OMIM:613411,1,GRK1,"[GPRK1, RK]",G protein-coupled receptor kinase 1,gene with protein product,13q34,The molecular basis of the disorder is known,Unknown,,180381,ENSG00000185974,objectId:1465,Q15835,Q15835,HGNC:10013 +GARD:0015661,Orphanet+OMIM,613424,OMIM:613424,1,ACTC1,[CMD1R],actin alpha cardiac muscle 1,gene with protein product,15q14,The molecular basis of the disorder is known,Unknown,,102540,ENSG00000159251,,P68032,P68032,HGNC:143 +GARD:0015662,Orphanet+OMIM,613428,OMIM:613428,1,PCARE,"[FLJ34931, RP54]",photoreceptor cilium actin regulator,gene with protein product,2p23.2,The molecular basis of the disorder is known,Unknown,,613425,ENSG00000179270,,A6NGG8,,HGNC:34383 +GARD:0015663,Orphanet+OMIM,613435,OMIM:613435,1,OPTN,"[FIP-2, FIP2, HIP7, HYPL, NRP, TFIIIA-INTP]",optineurin,gene with protein product,10p13,The molecular basis of the disorder is known,Unknown,,602432,ENSG00000123240,,Q96CV9,Q96CV9,HGNC:17142 +GARD:0015664,Orphanet+OMIM,613454,OMIM:613454,1,FOXG1,"[BF1, HBF-3, HFK1, HFK2, HFK3, QIN, brain factor 1]",forkhead box G1,gene with protein product,14q12,The molecular basis of the disorder is known,Unknown,,164874,ENSG00000176165,,P55316,P55316,HGNC:3811 +GARD:0015665,Orphanet+OMIM,613464,OMIM:613464,1,TTC8,"[BBS8, RP51]",tetratricopeptide repeat domain 8,gene with protein product,14q31.3,The molecular basis of the disorder is known,Unknown,,608132,ENSG00000165533,,Q8TAM2,Q8TAM2,HGNC:20087 +GARD:0015666,Orphanet+OMIM,613485,OMIM:613485,1,KCNJ5,"[CIR, G protein-activated inward rectifier potassium channel 4, GIRK4, KATP1, Kir3.4, LQT13]",potassium inwardly rectifying channel subfamily J member 5,gene with protein product,11q24.3,The molecular basis of the disorder is known,Unknown,,600734,ENSG00000120457,objectId:437,P48544,P48544,HGNC:6266 +GARD:0015667,Orphanet+OMIM,613488,OMIM:613488,1,MXLPO,,Myxoid liposarcoma,,12q13.1,The disorder is a chromosome deletion or duplication syndrome,Unknown,,613488,,,,,OMIM:613488 +GARD:0015668,Orphanet+OMIM,613493,OMIM:613493,1,CD19,,CD19 molecule,gene with protein product,16p11.2,The molecular basis of the disorder is known,Unknown,,107265,ENSG00000177455,objectId:2764,P15391,P15391,HGNC:1633 +GARD:0015669,Orphanet+OMIM,613494,OMIM:613494,1,TNFRSF13C,"[BAFFR, CD268]",TNF receptor superfamily member 13C,gene with protein product,22q13.2,The molecular basis of the disorder is known,Unknown,,606269,ENSG00000159958,objectId:1886,Q96RJ3,Q96RJ3,HGNC:17755 +GARD:0015670,Orphanet+OMIM,613495,OMIM:613495,1,MS4A1,"[B1, Bp35, FMC7]",membrane spanning 4-domains A1,gene with protein product,11q12.2,The molecular basis of the disorder is known,Unknown,,112210,ENSG00000156738,objectId:2628,P11836,,HGNC:7315 +GARD:0015671,Orphanet+OMIM,613496,OMIM:613496,1,CD81,"[TAPA-1, TSPAN28]",CD81 molecule,gene with protein product,11p15.5,The molecular basis of the disorder is known,Unknown,,186845,ENSG00000110651,,P60033,P60033,HGNC:1701 +GARD:0015672,Orphanet+OMIM,613500,OMIM:613500,1,IGLL1,"[14.1, CD179B, IGL5, IGVPB, lambda 5]",immunoglobulin lambda like polypeptide 1,gene with protein product,22q11.23,The molecular basis of the disorder is known,Unknown,,146770,ENSG00000128322,,P15814,P15814,HGNC:5870 +GARD:0015673,Orphanet+OMIM,613501,OMIM:613501,1,CD79A,"[B-cell antigen receptor complex-associated protein alpha chain, IGAlpha, Ig-alpha, MB-1, MB1]",CD79a molecule,gene with protein product,19q13.2,The molecular basis of the disorder is known,Unknown,,112205,ENSG00000105369,,P11912,P11912,HGNC:1698 +GARD:0015674,Orphanet+OMIM,613502,OMIM:613502,1,BLNK,"[B cell adaptor containing SH2 domain, B-cell activation, B-cell adapter containing a SH2 domain protein, BASH, BLNK-s, Ly57, SLP-65, SLP65, Src homology [SH2] domain-containing leukocyte protein of 65 kD, bca]",B cell linker,gene with protein product,10q24.1,The molecular basis of the disorder is known,Unknown,,604515,ENSG00000095585,,Q8WV28,Q8WV28,HGNC:14211 +GARD:0015675,Orphanet+OMIM,613506,OMIM:613506,1,LRRC8A,"[FLJ10337, KIAA1437, SWELL1]",leucine rich repeat containing 8 VRAC subunit A,gene with protein product,9q34.11,The molecular basis of the disorder is known,Unknown,,608360,ENSG00000136802,,Q8IWT6,Q8IWT6,HGNC:19027 +GARD:0015676,Orphanet+OMIM,613561,OMIM:613561,1,YARS2,"[CGI-04, FLJ13995, mitochondrial, mt-TyrRS, tyrosine tRNA ligase 2]",tyrosyl-tRNA synthetase 2,gene with protein product,12p11.21,The molecular basis of the disorder is known,Unknown,,610957,ENSG00000139131,,Q9Y2Z4,Q9Y2Z4,HGNC:24249 +GARD:0015677,Orphanet+OMIM,613575,OMIM:613575,1,ARL6,[RP55],ADP ribosylation factor like GTPase 6,gene with protein product,3q11.2,The molecular basis of the disorder is known,Unknown,,608845,ENSG00000113966,,Q9H0F7,Q9H0F7,HGNC:13210 +GARD:0015678,Orphanet+OMIM,613581,OMIM:613581,1,IMPG2,"[IPM200, RP56, SPACRCAN]",interphotoreceptor matrix proteoglycan 2,gene with protein product,3q12.3,The molecular basis of the disorder is known,Unknown,,607056,ENSG00000081148,,Q9BZV3,,HGNC:18362 +GARD:0015679,Orphanet+OMIM,613582,OMIM:613582,1,PDE6G,[RP57],phosphodiesterase 6G,gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,180073,ENSG00000185527,objectId:1316,P18545,P18545,HGNC:8789 +GARD:0015680,Orphanet+OMIM,613610,OMIM:613610,1,WDR35,"[CFAP118, FAP118, IFT121, IFTA1, KIAA1336, MGC33196]",WD repeat domain 35,gene with protein product,2p24.1,The molecular basis of the disorder is known,Unknown,,613602,ENSG00000118965,,Q9P2L0,Q9P2L0,HGNC:29250 +GARD:0015681,Orphanet+OMIM,613615,OMIM:613615,1,SDCCAG8,"[BBS16, Bardet-Biedl syndrome 16, CCCAP, NPHP10, NY-CO-8, SLSN7, Senior-Loken syndrome 7, centrosomal colon cancer autoantigen protein, nephrocystin 10]",SHH signaling and ciliogenesis regulator SDCCAG8,gene with protein product,1q43-q44,The molecular basis of the disorder is known,Unknown,,613524,ENSG00000054282,,Q86SQ7,Q86SQ7,HGNC:10671 +GARD:0015682,Orphanet+OMIM,613617,OMIM:613617,1,ZNF513,"[FLJ32203, RP58, Zfp513]",zinc finger protein 513,gene with protein product,2p23.3,The molecular basis of the disorder is known,Unknown,,613598,ENSG00000163795,,Q8N8E2,,HGNC:26498 +GARD:0015683,Orphanet+OMIM,613640,OMIM:613640,1,SPTLC2,"[KIAA0526, LCB2, LCB2A, hLCB2a]",serine palmitoyltransferase long chain base subunit 2,gene with protein product,14q24.3,The molecular basis of the disorder is known,Unknown,,605713,ENSG00000100596,objectId:2510,O15270,O15270,HGNC:11278 +GARD:0015684,Orphanet+OMIM,613642,OMIM:613642,1,SDHA,"[FP, SDHF, flavoprotein subunit of complex II, succinate dehydrogenase [ubiquinone] flavoprotein subunit]",succinate dehydrogenase complex flavoprotein subunit A,gene with protein product,5p15.33,The molecular basis of the disorder is known,Unknown,,600857,ENSG00000073578,,P31040,P31040,HGNC:10680 +GARD:0015685,Orphanet+OMIM,613657,OMIM:613657,1,IDH2,[IDH-2],isocitrate dehydrogenase (NADP(+)) 2,gene with protein product,15q26.1,The molecular basis of the disorder is known,Unknown,,147650,ENSG00000182054,objectId:2885,P48735,P48735,HGNC:5383 +GARD:0015686,Orphanet+OMIM,613660,OMIM:613660,1,CDHR1,"[CORD15, KIAA1775, RP65]",cadherin related family member 1,gene with protein product,10q23.1,The molecular basis of the disorder is known,Unknown,,609502,ENSG00000148600,,Q96JP9,,HGNC:14550 +GARD:0015687,Orphanet+OMIM,613676,OMIM:613676,1,CENPJ,"[BM032, CPAP, LAG-3-associated protein, LAP, LIP1, SASS4, SCKL4, Sas-4, Seckel syndrome 4, Spindle assembly abnormal 4, centrosomal P4.1-associated protein]",centromere protein J,gene with protein product,13q12.12-q12.13,The molecular basis of the disorder is known,Unknown,,609279,ENSG00000151849,,Q9HC77,Q9HC77,HGNC:17272 +GARD:0015688,Orphanet+OMIM,613681,OMIM:613681,1,DUP2q31.1,[C2DUPq31.1],Chromosome 2q31.1 duplication syndrome,,2q31.1,The disorder is a chromosome deletion or duplication syndrome,Unknown,,613681,,,,,OMIM:613681 +GARD:0015689,Orphanet+OMIM,613694,OMIM:613694,1,PSEN1,"[FAD, PS-1, PS1, PSNL1, S182, familial Alzheimer Disease]",presenilin 1,gene with protein product,14q24.2,The molecular basis of the disorder is known,Unknown,,104311,ENSG00000080815,objectId:2402,P49768,P49768,HGNC:9508 +GARD:0015690,Orphanet+OMIM,613697,OMIM:613697,1,PSEN2,"[AD3L, Alzheimer disease 3-like, E5-1, PS-2, PS2, STM2]",presenilin 2,gene with protein product,1q42.13,The molecular basis of the disorder is known,Unknown,,600759,ENSG00000143801,objectId:2403,P49810,P49810,HGNC:9509 +GARD:0015691,Orphanet+OMIM,613702,OMIM:613702,1,GDF3,,growth differentiation factor 3,gene with protein product,12p13.31,The molecular basis of the disorder is known,Unknown,,606522,ENSG00000184344,ligandId:4938,Q9NR23,,HGNC:4218 +GARD:0015692,Orphanet+OMIM,613703,OMIM:613703,2,GDF6,"[BMP13, KFS, KFS1]",growth differentiation factor 6,gene with protein product,8q22.1,The molecular basis of the disorder is known,Unknown,,601147,ENSG00000156466,ligandId:4878,Q6KF10,,HGNC:4221 +GARD:0015692,Orphanet+OMIM,613703,OMIM:613703,2,GDF3,,growth differentiation factor 3,gene with protein product,12p13.31,The molecular basis of the disorder is known,Unknown,,606522,ENSG00000184344,ligandId:4938,Q9NR23,,HGNC:4218 +GARD:0015693,Orphanet+OMIM,613706,OMIM:613706,1,BRAF,"[BRAF-1, BRAF1]","B-Raf proto-oncogene, serine/threonine kinase",gene with protein product,7q34,The molecular basis of the disorder is known,Unknown,,164757,ENSG00000157764,objectId:1943,P15056,P15056,HGNC:1097 +GARD:0015694,Orphanet+OMIM,613707,OMIM:613707,1,BRAF,"[BRAF-1, BRAF1]","B-Raf proto-oncogene, serine/threonine kinase",gene with protein product,7q34,The molecular basis of the disorder is known,Unknown,,164757,ENSG00000157764,objectId:1943,P15056,P15056,HGNC:1097 +GARD:0015695,Orphanet+OMIM,613708,OMIM:613708,1,ATL1,"[AD-FSP, FSP1, atlastin]",atlastin GTPase 1,gene with protein product,14q22.1,The molecular basis of the disorder is known,Unknown,,606439,ENSG00000198513,,Q8WXF7,,HGNC:11231 +GARD:0015696,Orphanet+OMIM,613711,OMIM:613711,1,GDNF,"[ATF1, ATF2, HFB1-GDNF, astrocyte-derived trophic factor, glial cell line derived neurotrophic factor, glial derived neurotrophic factor]",glial cell derived neurotrophic factor,gene with protein product,5p13.2,The molecular basis of the disorder is known,Unknown,,600837,ENSG00000168621,ligandId:4940,P39905,P39905,HGNC:4232 +GARD:0015697,Orphanet+OMIM,613712,OMIM:613712,1,EDN3,[ET3],endothelin 3,gene with protein product,20q13.32,The molecular basis of the disorder is known,Unknown,,131242,ENSG00000124205,ligandId:1004,P14138,P14138,HGNC:3178 +GARD:0015698,Orphanet+OMIM,613717,OMIM:613717,1,POLR1D,"[AC19, MGC9850, RPA16, RPA9, RPAC2, RPO1-3]",RNA polymerase I and III subunit D,gene with protein product,13q12.2,The molecular basis of the disorder is known,Unknown,,613715,ENSG00000186184,,"P0DPB5, P0DPB6",,HGNC:20422 +GARD:0015699,Orphanet+OMIM,613721,OMIM:613721,1,SCN2A,"[HBSCI, HBSCII, Nav1.2]",sodium voltage-gated channel alpha subunit 2,gene with protein product,2q24.3,The molecular basis of the disorder is known,Unknown,,182390,ENSG00000136531,objectId:579,Q99250,Q99250,HGNC:10588 +GARD:0015700,Orphanet+OMIM,613750,OMIM:613750,1,NRL,"[D14S46E, NRL-MAF, RP27]",neural retina leucine zipper,gene with protein product,14q11.2-q12,The molecular basis of the disorder is known,Unknown,,162080,ENSG00000129535,,P54845,,HGNC:8002 +GARD:0015701,Orphanet+OMIM,613756,OMIM:613756,1,CNGA1,"[CNG1, RCNC1, RCNCa, RP49, cGMP-gated cation channel alpha-1]",cyclic nucleotide gated channel subunit alpha 1,gene with protein product,4p12,The molecular basis of the disorder is known,Unknown,,123825,ENSG00000198515,objectId:394,P29973,P29973,HGNC:2148 +GARD:0015702,Orphanet+OMIM,613758,OMIM:613758,1,SAG,"[ARRESTIN, RP47, arrestin 1, rod arrestin]",S-antigen visual arrestin,gene with protein product,2q37.1,The molecular basis of the disorder is known,Unknown,,181031,ENSG00000130561,,P10523,P10523,HGNC:10521 +GARD:0015703,Orphanet+OMIM,613762,OMIM:613762,1,MAP3K1,"[MAPKKK1, MEKK]",mitogen-activated protein kinase kinase kinase 1,gene with protein product,5q11.2,The molecular basis of the disorder is known,Unknown,,600982,ENSG00000095015,objectId:2069,Q13233,Q13233,HGNC:6848 +GARD:0015704,Orphanet+OMIM,613767,OMIM:613767,1,CNGB1,"[CNGB1B, GAR1, GARP, RCNC2, RCNCb, RP45, cyclic nucleotide-gated cation channel beta-1, glutamic acid-rich protein]",cyclic nucleotide gated channel subunit beta 1,gene with protein product,16q21,The molecular basis of the disorder is known,Unknown,,600724,ENSG00000070729,objectId:398,Q14028,Q14028,HGNC:2151 +GARD:0015705,Orphanet+OMIM,613769,OMIM:613769,1,RGR,"[RGR-opsin, RP44]",retinal G protein coupled receptor,gene with protein product,10q23.1,The molecular basis of the disorder is known,Unknown,,600342,ENSG00000148604,,P47804,P47804,HGNC:9990 +GARD:0015706,Orphanet+OMIM,613780,OMIM:613780,1,MYLK,"[KRP, MLCK, MLCK1, MLCK108, MLCK210, MYLK-L, MYLK1, Telokin, kinase related protein, smMLCK, smooth muscle myosin light chain kinase]",myosin light chain kinase,gene with protein product,3q21.1,The molecular basis of the disorder is known,Unknown,,600922,ENSG00000065534,objectId:1552,Q15746,Q15746,HGNC:7590 +GARD:0015707,Orphanet+OMIM,613783,OMIM:613783,1,C1S,,complement C1s,gene with protein product,12p13.31,The molecular basis of the disorder is known,Unknown,,120580,ENSG00000182326,objectId:2335,P09871,P09871,HGNC:1247 +GARD:0015708,Orphanet+OMIM,613800,OMIM:613800,1,ORC4,"[HsORC4, Orc4p]",origin recognition complex subunit 4,gene with protein product,2q23.1,The molecular basis of the disorder is known,Unknown,,603056,ENSG00000115947,,O43929,O43929,HGNC:8490 +GARD:0015709,Orphanet+OMIM,613801,OMIM:613801,1,PDE6B,"[CSNB3, CSNBAD2, RP40, autosomal dominant, congenital stationary night blindness 3, rd1, rod cGMP-specific 3';5'-cyclic phosphodiesterase subunit beta]",phosphodiesterase 6B,gene with protein product,4p16.3,The molecular basis of the disorder is known,Unknown,,180072,ENSG00000133256,objectId:1313,P35913,P35913,HGNC:8786 +GARD:0015710,Orphanet+OMIM,613803,OMIM:613803,1,ORC6,,origin recognition complex subunit 6,gene with protein product,16q11.2,The molecular basis of the disorder is known,Unknown,,607213,ENSG00000091651,,Q9Y5N6,Q9Y5N6,HGNC:17151 +GARD:0015711,Orphanet+OMIM,613804,OMIM:613804,1,CDT1,"[DUP, RIS2]",chromatin licensing and DNA replication factor 1,gene with protein product,16q24.3,The molecular basis of the disorder is known,Unknown,,605525,ENSG00000167513,,Q9H211,Q9H211,HGNC:24576 +GARD:0015712,Orphanet+OMIM,613805,OMIM:613805,1,CDC6,,cell division cycle 6,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,602627,ENSG00000094804,,Q99741,Q99741,HGNC:1744 +GARD:0015713,Orphanet+OMIM,613807,OMIM:613807,1,CCDC39,"[CFAP59, CILD14, DKFZp434A128, FAP59]",coiled-coil domain containing 39,gene with protein product,3q26.33,The molecular basis of the disorder is known,Unknown,,613798,ENSG00000284862,,Q9UFE4,,HGNC:25244 +GARD:0015714,Orphanet+OMIM,613808,OMIM:613808,1,CCDC40,"[CFAP172, CILD15, FAP172, FLJ20753, FLJ32021, KIAA1640]",coiled-coil domain containing 40,gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,613799,ENSG00000141519,,Q4G0X9,,HGNC:26090 +GARD:0015715,Orphanet+OMIM,613809,OMIM:613809,1,USH2A,[RP39],usherin,gene with protein product,1q41,The molecular basis of the disorder is known,Unknown,,608400,ENSG00000042781,,O75445,,HGNC:12601 +GARD:0015716,Orphanet+OMIM,613810,OMIM:613810,1,PDE6A,"[RP43, Rod cGMP-specific 3';5'-cyclic phosphodiesterase subunit alpha, retinitis pigmentosa type 43]",phosphodiesterase 6A,gene with protein product,5q32,The molecular basis of the disorder is known,Unknown,,180071,ENSG00000132915,objectId:1312,P16499,P16499,HGNC:8785 +GARD:0015717,Orphanet+OMIM,613811,OMIM:613811,1,SEPSECS,"[O-phosphoseryl-tRNA(Sec) selenium transferase, SLA, SLA-p35, SLA/LP, SecS, soluble liver antigen/liver pancreas antigen]",Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase,gene with protein product,4p15.2,The molecular basis of the disorder is known,Unknown,,613009,ENSG00000109618,,Q9HD40,Q9HD40,HGNC:30605 +GARD:0015718,Orphanet+OMIM,613819,OMIM:613819,1,TTC21B,"[CFAP60, FAP60, FLA17, FLJ11457, IFT139, IFT139B, JBTS11, NPHP12, Nephronophthisis type12, THM1, intraflagellar transport 139 homolog, tetratricopeptide repeat-containing hedgehog modulator-1]",tetratricopeptide repeat domain 21B,gene with protein product,2q24.3,The molecular basis of the disorder is known,Unknown,,612014,ENSG00000123607,,Q7Z4L5,Q7Z4L5,HGNC:25660 +GARD:0015719,Orphanet+OMIM,613823,OMIM:613823,1,CEP152,"[KIAA0912, MCPH9, SCKL5, asterless]",centrosomal protein 152,gene with protein product,15q21.1,The molecular basis of the disorder is known,Unknown,,613529,ENSG00000103995,,O94986,O94986,HGNC:29298 +GARD:0015720,Orphanet+OMIM,613827,OMIM:613827,1,GUCA1B,"[GCAP2, RP48]",guanylate cyclase activator 1B,gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,602275,ENSG00000112599,ligandId:9165,Q9UMX6,Q9UMX6,HGNC:4679 +GARD:0015721,Orphanet+OMIM,613830,OMIM:613830,1,SLC24A1,"[CSNB1D, HsT17412, KIAA0702, NCKX, NCKX1, Na/Ca-K exchanger 1, RODX, retinal rod Na+/Ca+/K+ exchanger]",solute carrier family 24 member 1,gene with protein product,15q22.31,The molecular basis of the disorder is known,Unknown,,603617,ENSG00000074621,objectId:1045,O60721,O60721,HGNC:10975 +GARD:0015722,Orphanet+OMIM,613849,OMIM:613849,1,SP7,"[OSX, osterix]",Sp7 transcription factor,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,606633,ENSG00000170374,,Q8TDD2,Q8TDD2,HGNC:17321 +GARD:0015723,Orphanet+OMIM,613856,OMIM:613856,1,GNAT2,[ACHM4],G protein subunit alpha transducin 2,gene with protein product,1p13.3,The molecular basis of the disorder is known,Unknown,,139340,ENSG00000134183,,P19087,P19087,HGNC:4394 +GARD:0015724,Orphanet+OMIM,613861,OMIM:613861,1,DHDDS,"[DS, FLJ13102, HDS, RP59, hCIT]",dehydrodolichyl diphosphate synthase subunit,gene with protein product,1p36.11,The molecular basis of the disorder is known,Unknown,,608172,ENSG00000117682,,Q86SQ9,Q86SQ9,HGNC:20603 +GARD:0015725,Orphanet+OMIM,613862,OMIM:613862,1,MERTK,"[RP38, Tyro12, c-Eyk, mer]","MER proto-oncogene, tyrosine kinase",gene with protein product,2q13,The molecular basis of the disorder is known,Unknown,,604705,ENSG00000153208,objectId:1837,Q12866,Q12866,HGNC:7027 +GARD:0015726,Orphanet+OMIM,613881,OMIM:613881,1,BAG3,[BAG family molecular chaperone regulator 3],BAG cochaperone 3,gene with protein product,10q26.11,The molecular basis of the disorder is known,Unknown,,603883,ENSG00000151929,,O95817,O95817,HGNC:939 +GARD:0015727,Orphanet+OMIM,613885,OMIM:613885,1,TCTN2,"[FLJ12975, JBTS24, MKS8, Meckel syndrome, TECT2, type 8]",tectonic family member 2,gene with protein product,12q24.31,The molecular basis of the disorder is known,Unknown,,613846,ENSG00000168778,,Q96GX1,Q96GX1,HGNC:25774 +GARD:0015728,Orphanet+OMIM,613925,OMIM:613925,1,HEPACAM,"[FLJ25530, GLIALCAM, glial cell adhesion molecule]",hepatic and glial cell adhesion molecule,gene with protein product,11q24.2,The molecular basis of the disorder is known,Unknown,,611642,ENSG00000165478,,Q14CZ8,,HGNC:26361 +GARD:0015729,Orphanet+OMIM,613926,OMIM:613926,1,HEPACAM,"[FLJ25530, GLIALCAM, glial cell adhesion molecule]",hepatic and glial cell adhesion molecule,gene with protein product,11q24.2,The molecular basis of the disorder is known,Unknown,,611642,ENSG00000165478,,Q14CZ8,,HGNC:26361 +GARD:0015730,Orphanet+OMIM,613930,OMIM:613930,1,APMR3,,Alopecia-intellectual disability syndrome 3,unknown,18q11.2-q12.2,The disease phenotype itself was mapped,Unknown,,613930,,,,,GeneID:100653369 +GARD:0015731,Orphanet+OMIM,613951,OMIM:613951,1,SLX4,"[FANCP, Fanconi anemia, KIAA1784, KIAA1987, complementation group P]",SLX4 structure-specific endonuclease subunit,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,613278,ENSG00000188827,,Q8IY92,Q8IY92,HGNC:23845 +GARD:0015732,Orphanet+OMIM,613953,OMIM:613953,1,IL17RA,"[CD217, CDw217, IL-17RA, hIL-17R]",interleukin 17 receptor A,gene with protein product,22q11.1,The molecular basis of the disorder is known,Unknown,,605461,ENSG00000177663,objectId:1738,Q96F46,Q96F46,HGNC:5985 +GARD:0015733,Orphanet+OMIM,613954,OMIM:613954,1,VCP,"[CDC48, IBMPFD, TERA, p97, transitional endoplasmic reticulum ATPase]",valosin containing protein,gene with protein product,9p13.3,The molecular basis of the disorder is known,Unknown,,601023,ENSG00000165280,,P55072,P55072,HGNC:12666 +GARD:0015734,Orphanet+OMIM,613957,OMIM:613957,1,NR5A1,"[AD4BP, ELP, FTZ1, SF-1, SF1, hSF-1, steroidogenic factor 1]",nuclear receptor subfamily 5 group A member 1,gene with protein product,9q33.3,The molecular basis of the disorder is known,Unknown,,184757,ENSG00000136931,objectId:632,Q13285,Q13285,HGNC:7983 +GARD:0015735,Orphanet+OMIM,613958,OMIM:613958,1,DPY19L2,"[FLJ32949, SPATA34, spermatogenesis associated 34]",dpy-19 like 2,gene with protein product,12q14.2,The molecular basis of the disorder is known,Unknown,,613893,ENSG00000177990,,Q6NUT2,,HGNC:19414 +GARD:0015736,Orphanet+OMIM,613960,OMIM:613960,1,NCF4,"[SH3PXD4, neutrophil NADPH oxidase factor 4, p40phox]",neutrophil cytosolic factor 4,gene with protein product,22q12.3,The molecular basis of the disorder is known,Unknown,,601488,ENSG00000100365,,Q15080,Q15080,HGNC:7662 +GARD:0015737,Orphanet+OMIM,613980,OMIM:613980,1,KCNJ2,"[IRK1, Kir2.1, LQT7]",potassium inwardly rectifying channel subfamily J member 2,gene with protein product,17q24.3,The molecular basis of the disorder is known,Unknown,,600681,ENSG00000123700,objectId:430,P63252,P63252,HGNC:6263 +GARD:0015738,Orphanet+OMIM,613983,OMIM:613983,1,PRPF6,"[ANT-1, Prp6, RP60, SNRNP102, TOM, U5-102K, bB152O15.1, hPrp6]",pre-mRNA processing factor 6,gene with protein product,20q13.33,The molecular basis of the disorder is known,Unknown,,613979,ENSG00000101161,,O94906,O94906,HGNC:15860 +GARD:0015739,Orphanet+OMIM,613987,OMIM:613987,1,NHP2,[FLJ20479],NHP2 ribonucleoprotein,gene with protein product,5q35.3,The molecular basis of the disorder is known,Unknown,,606470,ENSG00000145912,,Q9NX24,Q9NX24,HGNC:14377 +GARD:0015740,Orphanet+OMIM,613988,OMIM:613988,1,WRAP53,"[FLJ10385, TCAB1, WD-encoding RNA antisense to p53, telomerase cajal body protein 1]",WD repeat containing antisense to TP53,gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,612661,ENSG00000141499,,Q9BUR4,Q9BUR4,HGNC:25522 +GARD:0015741,Orphanet+OMIM,613989,OMIM:613989,1,TERT,"[EST2, TCS1, TP2, TRT, hEST2]",telomerase reverse transcriptase,gene with protein product,5p15.33,The molecular basis of the disorder is known,Unknown,,187270,ENSG00000164362,,O14746,O14746,HGNC:11730 +GARD:0015742,Orphanet+OMIM,613990,OMIM:613990,1,TINF2,[TIN2],TERF1 interacting nuclear factor 2,gene with protein product,14q12,The molecular basis of the disorder is known,Unknown,,604319,ENSG00000092330,,Q9BSI4,Q9BSI4,HGNC:11824 +GARD:0015743,Orphanet+OMIM,614017,OMIM:614017,1,DNAL1,"[1700010H15RiK, CILD16, MGC12435]",dynein axonemal light chain 1,gene with protein product,14q24.3,The molecular basis of the disorder is known,Unknown,,610062,ENSG00000119661,,Q4LDG9,,HGNC:23247 +GARD:0015744,Orphanet+OMIM,614021,OMIM:614021,1,TECRL,"[DKFZp313B2333, DKFZp313D0829, GPSN2L, SRD5A2L2, TERL, glycoprotein, synaptic 2-like]","trans-2,3-enoyl-CoA reductase like",gene with protein product,4q13.1,The molecular basis of the disorder is known,Unknown,,617242,ENSG00000205678,,Q5HYJ1,Q5HYJ1,HGNC:27365 +GARD:0015745,Orphanet+OMIM,614022,OMIM:614022,1,SCN5A,"[CDCD2, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, long QT syndrome 3]",sodium voltage-gated channel alpha subunit 5,gene with protein product,3p22.2,The molecular basis of the disorder is known,Unknown,,600163,ENSG00000183873,objectId:582,Q14524,Q14524,HGNC:10593 +GARD:0015746,Orphanet+OMIM,614042,OMIM:614042,1,ACTA2,[ACTSA],"actin alpha 2, smooth muscle",gene with protein product,10q23.31,The molecular basis of the disorder is known,Unknown,,102620,ENSG00000107796,,P62736,P62736,HGNC:130 +GARD:0015747,Orphanet+OMIM,614049,OMIM:614049,1,GJA5,"[CX40, connexin 40]",gap junction protein alpha 5,gene with protein product,1q21.2,The molecular basis of the disorder is known,Unknown,,121013,ENSG00000265107,objectId:726,P36382,P36382,HGNC:4279 +GARD:0015748,Orphanet+OMIM,614050,OMIM:614050,1,ABCC9,"[CMD1O, SUR2, sulfonylurea receptor 2]",ATP binding cassette subfamily C member 9,gene with protein product,12p12.1,The molecular basis of the disorder is known,Unknown,,601439,ENSG00000069431,objectId:2746,O60706,O60706,HGNC:60 +GARD:0015749,Orphanet+OMIM,614066,OMIM:614066,1,AP4B1,"[AP-4 complex subunit beta-1, BETA-4, beta 4 subunit of AP-4]",adaptor related protein complex 4 subunit beta 1,gene with protein product,1p13.2,The molecular basis of the disorder is known,Unknown,,607245,ENSG00000134262,,Q9Y6B7,Q9Y6B7,HGNC:572 +GARD:0015750,Orphanet+OMIM,614067,OMIM:614067,1,AP4S1,"[AP47B, CLA20, SPG52]",adaptor related protein complex 4 subunit sigma 1,gene with protein product,14q12,The molecular basis of the disorder is known,Unknown,,607243,ENSG00000100478,,Q9Y587,Q9Y587,HGNC:575 +GARD:0015751,Orphanet+OMIM,614069,OMIM:614069,1,ZBTB24,"[BIF1, KIAA0441, PATZ2, POZ (BTB) and AT hook containing zinc finger 2]",zinc finger and BTB domain containing 24,gene with protein product,6q21,The molecular basis of the disorder is known,Unknown,,614064,ENSG00000112365,,O43167,,HGNC:21143 +GARD:0015752,Orphanet+OMIM,614079,OMIM:614079,2,CLEC1A,"[CLEC-1, CLEC1, MGC34328]",C-type lectin domain family 1 member A,gene with protein product,12p13.2,The molecular basis of the disorder is known,Unknown,,606782,ENSG00000150048,,Q8NC01,,HGNC:24355 +GARD:0015752,Orphanet+OMIM,614079,OMIM:614079,2,CLEC7A,"[CD369, DECTIN-1, SCARE2, hDectin-1]",C-type lectin domain containing 7A,gene with protein product,12p13.2,The molecular basis of the disorder is known,Unknown,,606264,ENSG00000172243,objectId:2927,Q9BXN2,Q9BXN2,HGNC:14558 +GARD:0015753,Orphanet+OMIM,614082,OMIM:614082,1,FANCG,"[9, DNA repair protein XRCC9, FAG, X-ray repair, X-ray repair complementing defective repair in Chinese hamster cells 9, complementing defective, in Chinese hamster]",FA complementation group G,gene with protein product,9p13.3,The molecular basis of the disorder is known,Unknown,,602956,ENSG00000221829,,O15287,O15287,HGNC:3588 +GARD:0015754,Orphanet+OMIM,614083,OMIM:614083,1,FANCL,"[FAAP43, FLJ10335, Pog]",FA complementation group L,gene with protein product,2p16.1,The molecular basis of the disorder is known,Unknown,,608111,ENSG00000115392,,Q9NW38,Q9NW38,HGNC:20748 +GARD:0015755,Orphanet+OMIM,614089,OMIM:614089,1,MYH6,"[cardiomyopathy, hypertrophic 1]",myosin heavy chain 6,gene with protein product,14q11.2,The molecular basis of the disorder is known,Unknown,,160710,ENSG00000197616,,P13533,P13533,HGNC:7576 +GARD:0015756,Orphanet+OMIM,614091,OMIM:614091,1,WDR35,"[CFAP118, FAP118, IFT121, IFTA1, KIAA1336, MGC33196]",WD repeat domain 35,gene with protein product,2p24.1,The molecular basis of the disorder is known,Unknown,,613602,ENSG00000118965,,Q9P2L0,Q9P2L0,HGNC:29250 +GARD:0015757,Orphanet+OMIM,614099,OMIM:614099,1,IFT43,"[FLJ32173, MGC16028]",intraflagellar transport 43,gene with protein product,14q24.3,The molecular basis of the disorder is known,Unknown,,614068,ENSG00000119650,,Q96FT9,Q96FT9,HGNC:29669 +GARD:0015758,Orphanet+OMIM,614114,OMIM:614114,1,CEP57,"[KIAA0092, TSP57, Translokin]",centrosomal protein 57,gene with protein product,11q21,The molecular basis of the disorder is known,Unknown,,607951,ENSG00000166037,,Q86XR8,Q86XR8,HGNC:30794 +GARD:0015759,Orphanet+OMIM,614120,OMIM:614120,1,KIF7,[JBTS12],kinesin family member 7,gene with protein product,15q26.1,The molecular basis of the disorder is known,Unknown,,611254,ENSG00000166813,,Q2M1P5,Q2M1P5,HGNC:30497 +GARD:0015760,Orphanet+OMIM,614129,OMIM:614129,1,CLPP,"[ATP-dependent protease ClpAP (E. coli), human, proteolytic subunit]",caseinolytic mitochondrial matrix peptidase proteolytic subunit,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,601119,ENSG00000125656,,Q16740,,HGNC:2084 +GARD:0015761,Orphanet+OMIM,614131,OMIM:614131,1,MYO1E,"[HuncM-IC, MGC104638, MYO1C, myosin-IC]",myosin IE,gene with protein product,15q22.2,The molecular basis of the disorder is known,Unknown,,601479,ENSG00000157483,,Q12965,,HGNC:7599 +GARD:0015762,Orphanet+OMIM,614149,OMIM:614149,1,NDNC9,,"Nail disorder, nonsyndromic congenital, 9 (anonychia-onycholysis)",unknown,17q25.1-q25.3,The disease phenotype itself was mapped,Unknown,,614149,,,,,GeneID:100682325 +GARD:0015763,Orphanet+OMIM,614165,OMIM:614165,1,SDHA,"[FP, SDHF, flavoprotein subunit of complex II, succinate dehydrogenase [ubiquinone] flavoprotein subunit]",succinate dehydrogenase complex flavoprotein subunit A,gene with protein product,5p15.33,The molecular basis of the disorder is known,Unknown,,600857,ENSG00000073578,,P31040,P31040,HGNC:10680 +GARD:0015764,Orphanet+OMIM,614170,OMIM:614170,1,PRDM5,[PFM2],PR/SET domain 5,gene with protein product,4q27,The molecular basis of the disorder is known,Unknown,,614161,ENSG00000138738,,Q9NQX1,,HGNC:9349 +GARD:0015765,Orphanet+OMIM,614173,OMIM:614173,1,TCTN1,"[FLJ21127, JBTS13, TECT1]",tectonic family member 1,gene with protein product,12q24.11,The molecular basis of the disorder is known,Unknown,,609863,ENSG00000204852,,Q2MV58,Q2MV58,HGNC:26113 +GARD:0015766,Orphanet+OMIM,614180,OMIM:614180,1,CLRN1,,clarin 1,gene with protein product,3q25.1,The molecular basis of the disorder is known,Unknown,,606397,ENSG00000163646,,P58418,,HGNC:12605 +GARD:0015767,Orphanet+OMIM,614181,OMIM:614181,1,MAK,"[RP62, dJ417M14.2]",male germ cell associated kinase,gene with protein product,6p24.2,The molecular basis of the disorder is known,Unknown,,154235,ENSG00000111837,objectId:2061,P20794,,HGNC:6816 +GARD:0015768,Orphanet+OMIM,614185,OMIM:614185,1,FBN1,"[MASS, Marfan syndrome, OCTD, SGS, asprosin]",fibrillin 1,gene with protein product,15q21.1,The molecular basis of the disorder is known,Unknown,,134797,ENSG00000166147,ligandId:9200,P35555,P35555,HGNC:3603 +GARD:0015769,Orphanet+OMIM,614190,OMIM:614190,1,PDE8B,[High affinity cAMP-specific and IBMX-insensitive 3';5'-cyclic phosphodiesterase 8B],phosphodiesterase 8B,gene with protein product,5q13.3,The molecular basis of the disorder is known,Unknown,,603390,ENSG00000113231,objectId:1308,O95263,O95263,HGNC:8794 +GARD:0015770,Orphanet+OMIM,614196,OMIM:614196,1,PTPRO,"[GLEPP1, NPHS6, PTP-U2, PTP-oc, PTPU2, osteoclastic transmembrane protein-tyrosine phosphatase]",protein tyrosine phosphatase receptor type O,gene with protein product,12p12.3,The molecular basis of the disorder is known,Unknown,,600579,ENSG00000151490,objectId:1863,Q16827,Q16827,HGNC:9678 +GARD:0015771,Orphanet+OMIM,614198,OMIM:614198,1,SCN4A,"[HYPP, Nav1.4, SkM1]",sodium voltage-gated channel alpha subunit 4,gene with protein product,17q23.3,The molecular basis of the disorder is known,Unknown,,603967,ENSG00000007314,objectId:581,P35499,P35499,HGNC:10591 +GARD:0015772,Orphanet+OMIM,614205,OMIM:614205,1,CCDC8,"[3M3, DKFZp564K0322, PPP1R20, protein phosphatase 1, regulatory subunit 20]",coiled-coil domain containing 8,gene with protein product,19q13.32,The molecular basis of the disorder is known,Unknown,,614145,ENSG00000169515,,Q9H0W5,Q9H0W5,HGNC:25367 +GARD:0015773,Orphanet+OMIM,614209,OMIM:614209,1,B9D1,"[B9, EPPB9, MKS9, MKSR-1, endothelial precursor protein B9]",B9 domain containing 1,gene with protein product,17p11.2,The molecular basis of the disorder is known,Unknown,,614144,ENSG00000108641,,Q9UPM9,Q9UPM9,HGNC:24123 +GARD:0015774,Orphanet+OMIM,614213,OMIM:614213,1,KIF1A,[UNC104],kinesin family member 1A,gene with protein product,2q37.3,The molecular basis of the disorder is known,Unknown,,601255,ENSG00000130294,,Q12756,Q12756,HGNC:888 +GARD:0015775,Orphanet+OMIM,614219,OMIM:614219,1,DOCK6,"[KIAA1395, ZIR1]",dedicator of cytokinesis 6,gene with protein product,19p13.2,The molecular basis of the disorder is known,Unknown,,614194,ENSG00000130158,,Q96HP0,Q96HP0,HGNC:19189 +GARD:0015776,Orphanet+OMIM,614220,OMIM:614220,1,PBC4,,"Biliary cirrhosis, primary, 4",unknown,7q32,The disease phenotype itself was mapped,Unknown,,614220,,,,,GeneID:100689215 +GARD:0015777,Orphanet+OMIM,614221,OMIM:614221,1,PBC5,,"Biliary cirrhosis, primary, 5",unknown,17q12,The disease phenotype itself was mapped,Unknown,,614221,,,,,GeneID:100689212 +GARD:0015778,Orphanet+OMIM,614222,OMIM:614222,1,RAB18,,"RAB18, member RAS oncogene family",gene with protein product,10p12.1,The molecular basis of the disorder is known,Unknown,,602207,ENSG00000099246,,Q9NP72,Q9NP72,HGNC:14244 +GARD:0015779,Orphanet+OMIM,614223,OMIM:614223,1,NRCLP6,,Narcolepsy 6,unknown,19p13.2,The disease phenotype itself was mapped,Unknown,,614223,,,,,GeneID:100689216 +GARD:0015780,Orphanet+OMIM,614225,OMIM:614225,1,RAB3GAP2,"[DKFZP434D245, KIAA0839, RAB3-GAP150, SPG69]",RAB3 GTPase activating non-catalytic protein subunit 2,gene with protein product,1q41,The molecular basis of the disorder is known,Unknown,,609275,ENSG00000118873,,Q9H2M9,Q9H2M9,HGNC:17168 +GARD:0015781,Orphanet+OMIM,614237,OMIM:614237,1,HYPT9,,Hypotrichosis 9,unknown,10q11.23-q22.3,The disease phenotype itself was mapped,Unknown,,614237,,,,,GeneID:100736250 +GARD:0015782,Orphanet+OMIM,614238,OMIM:614238,1,HYP10,[HYPT10],Hypotrichosis 10,unknown,7p22.3-p21.3,The disease phenotype itself was mapped,Unknown,,614238,,,,,GeneID:100736251 +GARD:0015783,Orphanet+OMIM,614250,OMIM:614250,1,MOG,"[BTN6, BTNL11]",myelin oligodendrocyte glycoprotein,gene with protein product,6p22.1,The molecular basis of the disorder is known,Unknown,,159465,ENSG00000204655,,Q16653,,HGNC:7197 +GARD:0015784,Orphanet+OMIM,614280,OMIM:614280,1,EJM9,,"Epilepsy, juvenile myoclonic, susceptibility to, 9",unknown,2q33-q36,The disease phenotype itself was mapped,Unknown,,614280,,,,,GeneID:100750238 +GARD:0015785,Orphanet+OMIM,614291,OMIM:614291,1,RAD51D,"[DNA repair protein RAD51 homolog 4, HsTRAD, R51H3, Trad, recombination repair protein]",RAD51 paralog D,gene with protein product,17q12,The molecular basis of the disorder is known,Unknown,,602954,ENSG00000185379,,O75771,O75771,HGNC:9823 +GARD:0015786,Orphanet+OMIM,614305,OMIM:614305,1,LRP4,"[CLSS, LRP-4, MEGF7, SOST2]",LDL receptor related protein 4,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,604270,ENSG00000134569,ligandId:5320,O75096,O75096,HGNC:6696 +GARD:0015787,Orphanet+OMIM,614307,OMIM:614307,1,AMACR,"[P504S, RACE]",alpha-methylacyl-CoA racemase,gene with protein product,5p13.2,The molecular basis of the disorder is known,Unknown,,604489,ENSG00000242110,,Q9UHK6,Q9UHK6,HGNC:451 +GARD:0015788,Orphanet+OMIM,614320,OMIM:614320,1,BRCA1,"[BRCA1/BRCA2-containing complex, BRCC1, FANCS, Fanconi anemia, PPP1R53, RNF53, complementation group S, protein phosphatase 1, regulatory subunit 53, subunit 1]",BRCA1 DNA repair associated,gene with protein product,17q21.31,The molecular basis of the disorder is known,Unknown,,113705,ENSG00000012048,,P38398,P38398,HGNC:1100 +GARD:0015789,Orphanet+OMIM,614331,OMIM:614331,1,TGFBR2,"[TBR-ii, TBRII]",transforming growth factor beta receptor 2,gene with protein product,3p24.1,The molecular basis of the disorder is known,Unknown,,190182,ENSG00000163513,objectId:1795,P37173,P37173,HGNC:11773 +GARD:0015790,Orphanet+OMIM,614335,OMIM:614335,1,MYBPC1,"[slow skeletal-type muscle myosin-binding-protein C, ssMyBP-C]",myosin binding protein C1,gene with protein product,12q23.2,The molecular basis of the disorder is known,Unknown,,160794,ENSG00000196091,,Q00872,Q00872,HGNC:7549 +GARD:0015791,Orphanet+OMIM,614337,OMIM:614337,1,PMS2,"[HNPCC4, H_DJ0042M02.9, MLH4, PMS-2]","PMS1 homolog 2, mismatch repair system component",gene with protein product,7p22.1,The molecular basis of the disorder is known,Unknown,,600259,ENSG00000122512,,P54278,P54278,HGNC:9122 +GARD:0015792,Orphanet+OMIM,614350,OMIM:614350,1,MSH6,[MSH-6],mutS homolog 6,gene with protein product,2p16.3,The molecular basis of the disorder is known,Unknown,,600678,ENSG00000116062,,P52701,P52701,HGNC:7329 +GARD:0015793,Orphanet+OMIM,614370,OMIM:614370,1,CSF2RB,"[CD131, IL5RB, beta common cytokine receptor, beta-GM-CSF receptor, betaGMR]",colony stimulating factor 2 receptor subunit beta,gene with protein product,22q12.3,The molecular basis of the disorder is known,Unknown,,138981,ENSG00000100368,objectId:2306,P32927,P32927,HGNC:2436 +GARD:0015794,Orphanet+OMIM,614373,OMIM:614373,1,SIGMAR1,[SR-BP1],sigma non-opioid intracellular receptor 1,gene with protein product,9p13.3,The molecular basis of the disorder is known,Unknown,,601978,ENSG00000147955,objectId:2552,Q99720,Q99720,HGNC:8157 +GARD:0015795,Orphanet+OMIM,614376,OMIM:614376,1,WDR19,"[CFAP66, DYF-2, FAP66, FLJ23127, IFT144, KIAA1638, NPHP13, ORF26, Oseg6, Pwdmp, intraflagellar transport 144 homolog (Chlamydomonas)]",WD repeat domain 19,gene with protein product,4p14,The molecular basis of the disorder is known,Unknown,,608151,ENSG00000157796,,Q8NEZ3,Q8NEZ3,HGNC:18340 +GARD:0015796,Orphanet+OMIM,614378,OMIM:614378,1,WDR19,"[CFAP66, DYF-2, FAP66, FLJ23127, IFT144, KIAA1638, NPHP13, ORF26, Oseg6, Pwdmp, intraflagellar transport 144 homolog (Chlamydomonas)]",WD repeat domain 19,gene with protein product,4p14,The molecular basis of the disorder is known,Unknown,,608151,ENSG00000157796,,Q8NEZ3,Q8NEZ3,HGNC:18340 +GARD:0015797,Orphanet+OMIM,614379,OMIM:614379,1,C4B,"[C4B1, C4B3, C4F, CH, CO4, CPAMD3]",complement C4B (Chido blood group),gene with protein product,6p21.33,The molecular basis of the disorder is known,Unknown,,120820,ENSG00000224389,,P0C0L5,P0C0L5,HGNC:1324 +GARD:0015798,Orphanet+OMIM,614380,OMIM:614380,1,C4A,"[C4, C4A2, C4A3, C4A4, C4A6, C4B, C4S, CO4, CPAMD2, RG]",complement C4A (Rodgers blood group),gene with protein product,6p21.33,The molecular basis of the disorder is known,Unknown,,120810,ENSG00000244731,ligandId:6547,P0C0L4,P0C0L4,HGNC:1323 +GARD:0015799,Orphanet+OMIM,614385,OMIM:614385,1,MLH3,,mutL homolog 3,gene with protein product,14q24.3,The molecular basis of the disorder is known,Unknown,,604395,ENSG00000119684,,Q9UHC1,Q9UHC1,HGNC:7128 +GARD:0015800,Orphanet+OMIM,614422,OMIM:614422,1,CTRCT37,[CCA5],Cataract 37,unknown,12q24.2-q24.3,The disease phenotype itself was mapped,Unknown,,614422,,,,,GeneID:100861439 +GARD:0015801,Orphanet+OMIM,614424,OMIM:614424,1,TMEM237,[JBTS14],transmembrane protein 237,gene with protein product,2q33.1,The molecular basis of the disorder is known,Unknown,,614423,ENSG00000155755,,Q96Q45,,HGNC:14432 +GARD:0015802,Orphanet+OMIM,614434,OMIM:614434,1,FBLN5,"[ARMD3, DANCE, EVEC, UP50, developmental arteries and neural crest EGF-like, embryonic vascular EGF-like repeat-containing protein]",fibulin 5,gene with protein product,14q32.12,The molecular basis of the disorder is known,Unknown,,604580,ENSG00000140092,,Q9UBX5,Q9UBX5,HGNC:3602 +GARD:0015803,Orphanet+OMIM,614435,OMIM:614435,1,NKX2-5,"[CSX1, NKX2.5, NKX4-1, tinman (Drosophila) homolog]",NK2 homeobox 5,gene with protein product,5q35.1,The molecular basis of the disorder is known,Unknown,,600584,ENSG00000183072,,P52952,P52952,HGNC:2488 +GARD:0015804,Orphanet+OMIM,614437,OMIM:614437,1,EFEMP2,"[FBLN4, UPH1, fibulin 4]",EGF containing fibulin extracellular matrix protein 2,gene with protein product,11q13.1,The molecular basis of the disorder is known,Unknown,,604633,ENSG00000172638,,O95967,O95967,HGNC:3219 +GARD:0015805,Orphanet+OMIM,614441,OMIM:614441,1,SLCO2A1,"[OATP2A1, PGT, prostaglandin transporter]",solute carrier organic anion transporter family member 2A1,gene with protein product,3q22.1-q22.2,The molecular basis of the disorder is known,Unknown,,601460,ENSG00000174640,objectId:1223,Q92959,Q92959,HGNC:10955 +GARD:0015806,Orphanet+OMIM,614464,OMIM:614464,1,CEP41,"[DKFZp762H1311, FLJ22445, JBTS15]",centrosomal protein 41,gene with protein product,7q32.2,The molecular basis of the disorder is known,Unknown,,610523,ENSG00000106477,,Q9BYV8,Q9BYV8,HGNC:12370 +GARD:0015807,Orphanet+OMIM,614465,OMIM:614465,1,TMEM138,"[HSPC196, JBTS16]",transmembrane protein 138,gene with protein product,11q12.2,The molecular basis of the disorder is known,Unknown,,614459,ENSG00000149483,,Q9NPI0,,HGNC:26944 +GARD:0015808,Orphanet+OMIM,614483,OMIM:614483,1,COL4A2,"[DKFZp686I14213, FLJ22259, canstatin, collagen type IV alpha 2]",collagen type IV alpha 2 chain,gene with protein product,13q34,The molecular basis of the disorder is known,Unknown,,120090,ENSG00000134871,,P08572,P08572,HGNC:2203 +GARD:0015809,Orphanet+OMIM,614493,OMIM:614493,1,WIPF1,[WIP],WAS/WASL interacting protein family member 1,gene with protein product,2q31.1,The molecular basis of the disorder is known,Unknown,,602357,ENSG00000115935,,O43516,O43516,HGNC:12736 +GARD:0015810,Orphanet+OMIM,614494,OMIM:614494,1,RP63,,Retinitis pigmentosa 63,unknown,6q23,The disease phenotype itself was mapped,Unknown,,614494,,,,,GeneID:100862681 +GARD:0015811,Orphanet+OMIM,614497,OMIM:614497,1,ABCB6,"[ATP-binding cassette half-transporter, EST45597, MTABC3, umat]",ATP binding cassette subfamily B member 6 (Langereis blood group),gene with protein product,2q35,The molecular basis of the disorder is known,Unknown,,605452,ENSG00000115657,objectId:773,Q9NP58,Q9NP58,HGNC:47 +GARD:0015812,Orphanet+OMIM,614500,OMIM:614500,1,CFAP418,"[BBS21, Bardet-Biedl syndrome 21, CORD16, FAP418, FLJ30600, MOT25, RP64, cone-rod dystrophy 16]",cilia and flagella associated protein 418,gene with protein product,8q22.1,The molecular basis of the disorder is known,Unknown,,614477,ENSG00000156172,,Q96NL8,,HGNC:27232 +GARD:0015813,Orphanet+OMIM,614504,OMIM:614504,1,HARS1,"[HisRS, Jo‐1 antigen, cytoplasmic, histidine tRNA ligase 1]",histidyl-tRNA synthetase 1,gene with protein product,5q31.3,The molecular basis of the disorder is known,Unknown,,142810,ENSG00000170445,,P12081,P12081,HGNC:4816 +GARD:0015814,Orphanet+OMIM,614508,OMIM:614508,1,RAD51,"[BRCA1/BRCA2-containing complex, BRCC5, FANCR, HsRad51, HsT16930, subunit 5]",RAD51 recombinase,gene with protein product,15q15.1,The molecular basis of the disorder is known,Unknown,,179617,ENSG00000051180,,Q06609,Q06609,HGNC:9817 +GARD:0015815,Orphanet+OMIM,614524,OMIM:614524,1,COL11A2,[HKE5],collagen type XI alpha 2 chain,gene with protein product,6p21.32,The molecular basis of the disorder is known,Unknown,,120290,ENSG00000204248,,P13942,P13942,HGNC:2187 +GARD:0015816,Orphanet+OMIM,614565,OMIM:614565,1,GPR179,[CSNB1E],G protein-coupled receptor 179,gene with protein product,17q12,The molecular basis of the disorder is known,Unknown,,614515,ENSG00000277399,objectId:211,Q6PRD1,,HGNC:31371 +GARD:0015817,Orphanet+OMIM,614583,OMIM:614583,1,ACTG1,,actin gamma 1,gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,102560,ENSG00000184009,,P63261,P63261,HGNC:144 +GARD:0015818,Orphanet+OMIM,614594,OMIM:614594,1,TRPV3,[VRL3],transient receptor potential cation channel subfamily V member 3,gene with protein product,17p13.2,The molecular basis of the disorder is known,Unknown,,607066,ENSG00000167723,objectId:509,Q8NET8,Q8NET8,HGNC:18084 +GARD:0015819,Orphanet+OMIM,614602,OMIM:614602,1,SKIC2,"[170A, DDX13, HLP, SKI2, SKI2W, SKIV2L1]",SKI2 subunit of superkiller complex,gene with protein product,6p21.33,The molecular basis of the disorder is known,Unknown,,600478,ENSG00000204351,,Q15477,Q15477,HGNC:10898 +GARD:0015820,Orphanet+OMIM,614607,OMIM:614607,1,ARID1A,"[B120, BAF250, BAF250a, C10rf4, P270]",AT-rich interaction domain 1A,gene with protein product,1p36.11,The molecular basis of the disorder is known,Unknown,,603024,ENSG00000117713,,O14497,O14497,HGNC:11110 +GARD:0015821,Orphanet+OMIM,614608,OMIM:614608,1,SMARCB1,"[BAF47, INI-1, Ini1, PPP1R144, RDT, SNF5, Sfh1p, Snr1, hSNFS, homolog-like 1, integrase interactor 1, malignant rhabdoid tumor suppressor, protein phosphatase 1, regulatory subunit 144, sucrose nonfermenting, yeast]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1",gene with protein product,22q11.23,The molecular basis of the disorder is known,Unknown,,601607,ENSG00000099956,,Q12824,Q12824,HGNC:11103 +GARD:0015822,Orphanet+OMIM,614609,OMIM:614609,1,SMARCA4,"[ATP-dependent helicase SMARCA4, BAF190, BRG1, BRM/SWI2-related gene 1, FLJ39786, SNF2, SNF2-BETA, SNF2-like 4, SNF2LB, SWI2, brahma protein-like 1, global transcription activator homologous sequence, hSNF2b, homeotic gene regulator, mitotic growth and transcription activator, nuclear protein GRB1, sucrose nonfermenting-like 4]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4",gene with protein product,19p13.2,The molecular basis of the disorder is known,Unknown,,603254,ENSG00000127616,objectId:2740,P51532,P51532,HGNC:11100 +GARD:0015823,Orphanet+OMIM,614613,OMIM:614613,1,PDE4D,"[cAMP-specific 3';5'-cyclic phosphodiesterase 4D, phosphodiesterase E3 dunce homolog (Drosophila)]",phosphodiesterase 4D,gene with protein product,5q11.2-q12.1,The molecular basis of the disorder is known,Unknown,,600129,ENSG00000113448,objectId:1303,Q08499,Q08499,HGNC:8783 +GARD:0015824,Orphanet+OMIM,614615,OMIM:614615,1,CPLANE1,"[FLJ13231, Heart Under Glass, Hug, JBTS17]",ciliogenesis and planar polarity effector complex subunit 1,gene with protein product,5p13.2,The molecular basis of the disorder is known,Unknown,,614571,ENSG00000197603,,Q9H799,,HGNC:25801 +GARD:0015825,Orphanet+OMIM,614618,OMIM:614618,1,SLC6A5,"[GLYT2, GlyT-2, Sodium- and chloride-dependent glycine transporter 2, glycine transporter 2]",solute carrier family 6 member 5,gene with protein product,11p15.1,The molecular basis of the disorder is known,Unknown,,604159,ENSG00000165970,objectId:936,Q9Y345,Q9Y345,HGNC:11051 +GARD:0015826,Orphanet+OMIM,614619,OMIM:614619,1,GLRB,,glycine receptor beta,gene with protein product,4q32.1,The molecular basis of the disorder is known,Unknown,,138492,ENSG00000109738,objectId:427,P48167,P48167,HGNC:4329 +GARD:0015827,Orphanet+OMIM,614621,OMIM:614621,1,ERCC8,[CSA],"ERCC excision repair 8, CSA ubiquitin ligase complex subunit",gene with protein product,5q12.1,The molecular basis of the disorder is known,Unknown,,609412,ENSG00000049167,,Q13216,Q13216,HGNC:3439 +GARD:0015828,Orphanet+OMIM,614640,OMIM:614640,1,UVSSA,,UV stimulated scaffold protein A,gene with protein product,4p16.3,The molecular basis of the disorder is known,Unknown,,614632,ENSG00000163945,,Q2YD98,Q2YD98,HGNC:29304 +GARD:0015829,Orphanet+OMIM,614643,OMIM:614643,1,CRPPA,"[4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis), D-ribitol-5-phosphate cytidylyltransferase, IspD, Nip, hCG_1745121, notch1-induced protein]",CDP-L-ribitol pyrophosphorylase A,gene with protein product,7p21.2,The molecular basis of the disorder is known,Unknown,,614631,ENSG00000214960,,A4D126,,HGNC:37276 +GARD:0015830,Orphanet+OMIM,614662,OMIM:614662,1,HSD11B1,"[SDR26C1, member 1, short chain dehydrogenase/reductase family 26C]",hydroxysteroid 11-beta dehydrogenase 1,gene with protein product,1q32.2,The molecular basis of the disorder is known,Unknown,,600713,ENSG00000117594,objectId:2763,P28845,P28845,HGNC:5208 +GARD:0015831,Orphanet+OMIM,614669,OMIM:614669,1,PLCB4,,phospholipase C beta 4,gene with protein product,20p12.3-p12.2,The molecular basis of the disorder is known,Unknown,,600810,ENSG00000101333,objectId:1406,Q15147,Q15147,HGNC:9059 +GARD:0015832,Orphanet+OMIM,614672,OMIM:614672,1,GATAD1,"[FLJ22489, ODAG, RG083M05.2, ocular development associated gene]",GATA zinc finger domain containing 1,gene with protein product,7q21.2,The molecular basis of the disorder is known,Unknown,,614518,ENSG00000157259,,Q8WUU5,,HGNC:29941 +GARD:0015833,Orphanet+OMIM,614673,OMIM:614673,1,CEP135,[FLJ13621],centrosomal protein 135,gene with protein product,4q12,The molecular basis of the disorder is known,Unknown,,611423,ENSG00000174799,,Q66GS9,Q66GS9,HGNC:29086 +GARD:0015834,Orphanet+OMIM,614678,OMIM:614678,1,EXOSC3,"[CGI-102, CGI-102 protein, RRP40, Rrp40p, exosome component Rrp40, hRrp-40, hRrp40p, p10]",exosome component 3,gene with protein product,9p13.2,The molecular basis of the disorder is known,Unknown,,606489,ENSG00000107371,,Q9NQT5,Q9NQT5,HGNC:17944 +GARD:0015835,Orphanet+OMIM,614679,OMIM:614679,1,CCDC103,"[CILD17, FLJ13094, FLJ34211, PR46b]",coiled-coil domain containing 103,gene with protein product,17q21.31,The molecular basis of the disorder is known,Unknown,,614677,ENSG00000167131,,Q8IW40,,HGNC:32700 +GARD:0015836,Orphanet+OMIM,614699,OMIM:614699,1,CR2,"[C3DR, CD21, Epstein-Barr virus receptor]",complement C3d receptor 2,gene with protein product,1q32.2,The molecular basis of the disorder is known,Unknown,,120650,ENSG00000117322,,P20023,P20023,HGNC:2336 +GARD:0015837,Orphanet+OMIM,614701,OMIM:614701,1,RAD21,"[KIAA0078, SCC1, hHR21, kleisin, sister chromatid cohesion 1]",RAD21 cohesin complex component,gene with protein product,8q24.11,The molecular basis of the disorder is known,Unknown,,606462,ENSG00000164754,,O60216,O60216,HGNC:9811 +GARD:0015838,Orphanet+OMIM,614714,OMIM:614714,1,MVD,"[MPD, diphosphomevalonate decarboxylase, mevalonate pyrophosphate decarboxylase]",mevalonate diphosphate decarboxylase,gene with protein product,16q24.2,The molecular basis of the disorder is known,Unknown,,603236,ENSG00000167508,objectId:642,P53602,P53602,HGNC:7529 +GARD:0015839,Orphanet+OMIM,614731,OMIM:614731,1,ELAC2,"[FLJ10530, HPC2, tRNase Z (long form)]",elaC ribonuclease Z 2,gene with protein product,17p12,The molecular basis of the disorder is known,Unknown,,605367,ENSG00000006744,,Q9BQ52,Q9BQ52,HGNC:14198 +GARD:0015840,Orphanet+OMIM,614736,OMIM:614736,1,NNT,,nicotinamide nucleotide transhydrogenase,gene with protein product,5p12,The molecular basis of the disorder is known,Unknown,,607878,ENSG00000112992,,Q13423,Q13423,HGNC:7863 +GARD:0015841,Orphanet+OMIM,614808,OMIM:614808,1,PFN1,,profilin 1,gene with protein product,17p13.2,The molecular basis of the disorder is known,Unknown,,176610,ENSG00000108518,,P07737,P07737,HGNC:8881 +GARD:0015842,Orphanet+OMIM,614814,OMIM:614814,1,RBPJ,"[CBF1, IGKJRB, KBF2, RBP-J, RBPJK, SUH, suppressor of hairless homolog (Drosophila)]",recombination signal binding protein for immunoglobulin kappa J region,gene with protein product,4p15.2,The molecular basis of the disorder is known,Unknown,,147183,ENSG00000168214,,Q06330,Q06330,HGNC:5724 +GARD:0015843,Orphanet+OMIM,614815,OMIM:614815,1,TCTN3,"[DKFZP564D116, JBTS18, TECT3]",tectonic family member 3,gene with protein product,10q24.1,The molecular basis of the disorder is known,Unknown,,613847,ENSG00000119977,,Q6NUS6,Q6NUS6,HGNC:24519 +GARD:0015844,Orphanet+OMIM,614819,OMIM:614819,1,LTBP2,,latent transforming growth factor beta binding protein 2,gene with protein product,14q24.3,The molecular basis of the disorder is known,Unknown,,602091,ENSG00000119681,,Q14767,Q14767,HGNC:6715 +GARD:0015845,Orphanet+OMIM,614820,OMIM:614820,1,ATP1A3,"[sodium pump subunit alpha-3, sodium-potassium ATPase catalytic subunit alpha-3, sodium/potassium-transporting ATPase subunit alpha-3]",ATPase Na+/K+ transporting subunit alpha 3,gene with protein product,19q13.2,The molecular basis of the disorder is known,Unknown,,182350,ENSG00000105409,objectId:835,P13637,P13637,HGNC:801 +GARD:0015846,Orphanet+OMIM,614830,OMIM:614830,1,POMGNT2,"[AGO61, FLJ14566, protein O-mannose beta-1;4-N-acetylglucosaminyltransferase 2]","protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",gene with protein product,3p22.1,The molecular basis of the disorder is known,Unknown,,614828,ENSG00000144647,,Q8NAT1,Q8NAT1,HGNC:25902 +GARD:0015847,Orphanet+OMIM,614832,OMIM:614832,1,ODAPH,"[AI2A4, FLJ23657, amelogenesis imperfecta type IIA4]",odontogenesis associated phosphoprotein,gene with protein product,4q21.1,The molecular basis of the disorder is known,Unknown,,614829,ENSG00000174792,,Q17RF5,,HGNC:26300 +GARD:0015848,Orphanet+OMIM,614834,OMIM:614834,1,TTPP3,,"Thyrotoxic periodic paralysis, susceptibility to, 3",unknown,17q24.3,The disease phenotype itself was mapped,Unknown,,614834,,,,,GeneID:112272595 +GARD:0015849,Orphanet+OMIM,614837,OMIM:614837,1,KISS1R,"[AXOR12, HOT7T175]",KISS1 receptor,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,604161,ENSG00000116014,objectId:266,Q969F8,Q969F8,HGNC:4510 +GARD:0015850,Orphanet+OMIM,614838,OMIM:614838,1,NSMF,,NMDA receptor synaptonuclear signaling and neuronal migration factor,gene with protein product,9q34.3,The molecular basis of the disorder is known,Unknown,,608137,ENSG00000165802,,Q6X4W1,,HGNC:29843 +GARD:0015851,Orphanet+OMIM,614840,OMIM:614840,1,TACR3,"[NK3 receptor, NK3R, NKR, TAC3R, neurokinin B receptor, neurokinin beta receptor, neuromedin-K receptor]",tachykinin receptor 3,gene with protein product,4q24,The molecular basis of the disorder is known,Unknown,,162332,ENSG00000169836,objectId:362,P29371,P29371,HGNC:11528 +GARD:0015852,Orphanet+OMIM,614845,OMIM:614845,1,CEP164,"[KIAA1052, NPHP15]",centrosomal protein 164,gene with protein product,11q23.3,The molecular basis of the disorder is known,Unknown,,614848,ENSG00000110274,,Q9UPV0,Q9UPV0,HGNC:29182 +GARD:0015853,Orphanet+OMIM,614849,OMIM:614849,1,TRAF3,"[CAP-1, CD40bp, CRAF1, LAP1, RNF118]",TNF receptor associated factor 3,gene with protein product,14q32.32,The molecular basis of the disorder is known,Unknown,,601896,ENSG00000131323,,Q13114,Q13114,HGNC:12033 +GARD:0015854,Orphanet+OMIM,614850,OMIM:614850,1,TICAM1,"[MGC35334, PRVTIRB, TICAM-1, TIR domain-containing adaptor-inducing interferon-beta, TRIF, proline-rich, vinculin and TIR domain-containing protein B]",TIR domain containing adaptor molecule 1,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,607601,ENSG00000127666,,Q8IUC6,Q8IUC6,HGNC:18348 +GARD:0015855,Orphanet+OMIM,614852,OMIM:614852,1,CEP152,"[KIAA0912, MCPH9, SCKL5, asterless]",centrosomal protein 152,gene with protein product,15q21.1,The molecular basis of the disorder is known,Unknown,,613529,ENSG00000103995,,O94986,O94986,HGNC:29298 +GARD:0015856,Orphanet+OMIM,614856,OMIM:614856,1,BMP1,"[BMP-1, procollagen C-endopeptidase, tolloid-like]",bone morphogenetic protein 1,gene with protein product,8p21.3,The molecular basis of the disorder is known,Unknown,,112264,ENSG00000168487,objectId:2333,P13497,P13497,HGNC:1067 +GARD:0015857,Orphanet+OMIM,614858,OMIM:614858,1,WDR11,"[DR11, FLJ10506, HH14, KIAA1351, SRI1, WDR15, sensitization to ricin complex subunit 1]",WD repeat domain 11,gene with protein product,10q26.12,The molecular basis of the disorder is known,Unknown,,606417,ENSG00000120008,,Q9BZH6,Q9BZH6,HGNC:13831 +GARD:0015858,Orphanet+OMIM,614859,OMIM:614859,1,PEX12,,peroxisomal biogenesis factor 12,gene with protein product,17q12,The molecular basis of the disorder is known,Unknown,,601758,ENSG00000108733,,O00623,O00623,HGNC:8854 +GARD:0015859,Orphanet+OMIM,614862,OMIM:614862,1,PEX6,"[PAF-2, PXAAA1]",peroxisomal biogenesis factor 6,gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,601498,ENSG00000124587,,Q13608,Q13608,HGNC:8859 +GARD:0015860,Orphanet+OMIM,614863,OMIM:614863,1,PEX6,"[PAF-2, PXAAA1]",peroxisomal biogenesis factor 6,gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,601498,ENSG00000124587,,Q13608,Q13608,HGNC:8859 +GARD:0015861,Orphanet+OMIM,614866,OMIM:614866,1,PEX2,"[PAF-1, PMP35, RNF72, ZWS3, Zellweger syndrome, peroxin 2]",peroxisomal biogenesis factor 2,gene with protein product,8q21.13,The molecular basis of the disorder is known,Unknown,,170993,ENSG00000164751,,P28328,P28328,HGNC:9717 +GARD:0015862,Orphanet+OMIM,614867,OMIM:614867,1,PEX2,"[PAF-1, PMP35, RNF72, ZWS3, Zellweger syndrome, peroxin 2]",peroxisomal biogenesis factor 2,gene with protein product,8q21.13,The molecular basis of the disorder is known,Unknown,,170993,ENSG00000164751,,P28328,P28328,HGNC:9717 +GARD:0015863,Orphanet+OMIM,614869,OMIM:614869,1,CIB2,"[KIP2, kinase interacting protein 2]",calcium and integrin binding family member 2,gene with protein product,15q25.1,The molecular basis of the disorder is known,Unknown,,605564,ENSG00000136425,,O75838,O75838,HGNC:24579 +GARD:0015864,Orphanet+OMIM,614870,OMIM:614870,1,PEX10,[RNF69],peroxisomal biogenesis factor 10,gene with protein product,1p36.32,The molecular basis of the disorder is known,Unknown,,602859,ENSG00000157911,,O60683,O60683,HGNC:8851 +GARD:0015865,Orphanet+OMIM,614871,OMIM:614871,1,PEX10,[RNF69],peroxisomal biogenesis factor 10,gene with protein product,1p36.32,The molecular basis of the disorder is known,Unknown,,602859,ENSG00000157911,,O60683,O60683,HGNC:8851 +GARD:0015866,Orphanet+OMIM,614872,OMIM:614872,1,PEX26,[FLJ20695],peroxisomal biogenesis factor 26,gene with protein product,22q11.21,The molecular basis of the disorder is known,Unknown,,608666,ENSG00000215193,,Q7Z412,Q7Z412,HGNC:22965 +GARD:0015867,Orphanet+OMIM,614873,OMIM:614873,1,PEX26,[FLJ20695],peroxisomal biogenesis factor 26,gene with protein product,22q11.21,The molecular basis of the disorder is known,Unknown,,608666,ENSG00000215193,,Q7Z412,Q7Z412,HGNC:22965 +GARD:0015868,Orphanet+OMIM,614874,OMIM:614874,1,DNAAF5,"[CILD18, FLJ20397, FLJ25564, FLJ31671, FLJ39381]",dynein axonemal assembly factor 5,gene with protein product,7p22.3,The molecular basis of the disorder is known,Unknown,,614864,ENSG00000164818,,Q86Y56,,HGNC:26013 +GARD:0015869,Orphanet+OMIM,614876,OMIM:614876,1,PEX16,,peroxisomal biogenesis factor 16,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,603360,ENSG00000121680,,Q9Y5Y5,Q9Y5Y5,HGNC:8857 +GARD:0015870,Orphanet+OMIM,614877,OMIM:614877,1,PEX16,,peroxisomal biogenesis factor 16,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,603360,ENSG00000121680,,Q9Y5Y5,Q9Y5Y5,HGNC:8857 +GARD:0015871,Orphanet+OMIM,614879,OMIM:614879,1,PEX7,"[PTS2R, RD, Refsum disease]",peroxisomal biogenesis factor 7,gene with protein product,6q23.3,The molecular basis of the disorder is known,Unknown,,601757,ENSG00000112357,,O00628,O00628,HGNC:8860 +GARD:0015872,Orphanet+OMIM,614880,OMIM:614880,1,HS6ST1,,heparan sulfate 6-O-sulfotransferase 1,gene with protein product,2q14.3,The molecular basis of the disorder is known,Unknown,,604846,ENSG00000136720,,O60243,O60243,HGNC:5201 +GARD:0015873,Orphanet+OMIM,614882,OMIM:614882,1,PEX3,,peroxisomal biogenesis factor 3,gene with protein product,6q24.2,The molecular basis of the disorder is known,Unknown,,603164,ENSG00000034693,,P56589,P56589,HGNC:8858 +GARD:0015874,Orphanet+OMIM,614883,OMIM:614883,1,PEX13,,peroxisomal biogenesis factor 13,gene with protein product,2p15,The molecular basis of the disorder is known,Unknown,,601789,ENSG00000162928,,Q92968,Q92968,HGNC:8855 +GARD:0015875,Orphanet+OMIM,614885,OMIM:614885,1,PEX13,,peroxisomal biogenesis factor 13,gene with protein product,2p15,The molecular basis of the disorder is known,Unknown,,601789,ENSG00000162928,,Q92968,Q92968,HGNC:8855 +GARD:0015876,Orphanet+OMIM,614886,OMIM:614886,1,PEX19,"[33kD, D1S2223E, HK33, PMP1, PMPI, PXMP1, housekeeping gene]",peroxisomal biogenesis factor 19,gene with protein product,1q23.2,The molecular basis of the disorder is known,Unknown,,600279,ENSG00000162735,,P40855,P40855,HGNC:9713 +GARD:0015877,Orphanet+OMIM,614887,OMIM:614887,1,PEX14,,peroxisomal biogenesis factor 14,gene with protein product,1p36.22,The molecular basis of the disorder is known,Unknown,,601791,ENSG00000142655,,O75381,O75381,HGNC:8856 +GARD:0015878,Orphanet+OMIM,614897,OMIM:614897,1,SEMA3A,"[Hsema-I, SEMA1, SemD, coll-1, sema III]",semaphorin 3A,gene with protein product,7q21.11,The molecular basis of the disorder is known,Unknown,,603961,ENSG00000075213,ligandId:9902,Q14563,Q14563,HGNC:10723 +GARD:0015879,Orphanet+OMIM,614900,OMIM:614900,1,RPL26,[L26],ribosomal protein L26,gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,603704,ENSG00000161970,,P61254,P61254,HGNC:10327 +GARD:0015880,Orphanet+OMIM,614916,OMIM:614916,1,CALM1,"[CAMI, DD132, PHKD, PHKD1, phosphorylase kinase subunit delta, phosphorylase kinase subunit delta 1, prepro-calmodulin 1]",calmodulin 1,gene with protein product,14q32.11,The molecular basis of the disorder is known,Unknown,,114180,ENSG00000198668,ligandId:2351,P0DP23,P0DP23,HGNC:1442 +GARD:0015881,Orphanet+OMIM,614920,OMIM:614920,1,PEX11B,"[PEX11beta, PEX11β, Peroxisomal membrane protein 11B]",peroxisomal biogenesis factor 11 beta,gene with protein product,1q21.1,The molecular basis of the disorder is known,Unknown,,603867,ENSG00000131779,,O96011,O96011,HGNC:8853 +GARD:0015882,Orphanet+OMIM,614926,OMIM:614926,1,HARS2,"[HARSR, HO3, histidine tRNA ligase 2, mitochondrial (putative)]","histidyl-tRNA synthetase 2, mitochondrial",gene with protein product,5q31.3,The molecular basis of the disorder is known,Unknown,,600783,ENSG00000112855,,P49590,P49590,HGNC:4817 +GARD:0015883,Orphanet+OMIM,614935,OMIM:614935,1,DNAAF11,"[CILD19, LRTP, TSLRP, leucine rich testes protein, seahorse, tilB]",dynein axonemal assembly factor 11,gene with protein product,8q24.22,The molecular basis of the disorder is known,Unknown,,614930,ENSG00000129295,,Q86X45,,HGNC:16725 +GARD:0015884,Orphanet+OMIM,614936,OMIM:614936,1,PPKP1B,,"Keratoderma, palmoplantar, punctate type IB",unknown,8q24.13-q24.21,The disease phenotype itself was mapped,Unknown,,614936,,,,,GeneID:101154752 +GARD:0015885,Orphanet+OMIM,614941,OMIM:614941,1,EDARADD,,EDAR associated death domain,gene with protein product,1q42.3-q43,The molecular basis of the disorder is known,Unknown,,606603,ENSG00000186197,,Q8WWZ3,Q8WWZ3,HGNC:14341 +GARD:0015886,Orphanet+OMIM,614959,OMIM:614959,1,KCNT1,"[KCa4.1, KIAA1422, SLACK, Sequence like a calcium-activated K+ channel, Slo2.2]",potassium sodium-activated channel subfamily T member 1,gene with protein product,9q34.3,The molecular basis of the disorder is known,Unknown,,608167,ENSG00000107147,objectId:385,Q5JUK3,,HGNC:18865 +GARD:0015887,Orphanet+OMIM,614970,OMIM:614970,1,TMEM231,"[ALYE870, FLJ22167, JBTS20, MKS11, PRO1886]",transmembrane protein 231,gene with protein product,16q23.1,The molecular basis of the disorder is known,Unknown,,614949,ENSG00000205084,,Q9H6L2,,HGNC:37234 +GARD:0015888,Orphanet+OMIM,614972,OMIM:614972,1,ABCB4,"[GBD1, MDR2, PFIC-3]",ATP binding cassette subfamily B member 4,gene with protein product,7q21.12,The molecular basis of the disorder is known,Unknown,,171060,ENSG00000005471,objectId:771,P21439,P21439,HGNC:45 +GARD:0015889,Orphanet+OMIM,614976,OMIM:614976,1,MEGF8,"[FLJ22365, HBV pre s2 binding protein 1, SBP1]",multiple EGF like domains 8,gene with protein product,19q13.2,The molecular basis of the disorder is known,Unknown,,604267,ENSG00000105429,,Q7Z7M0,,HGNC:3233 +GARD:0015890,Orphanet+OMIM,614990,OMIM:614990,1,USH1K,,"Usher syndrome, type IK",unknown,10p11.21-q21.1,The disease phenotype itself was mapped,Unknown,,614990,,,,,GeneID:101180907 +GARD:0015891,Orphanet+OMIM,615005,OMIM:615005,1,KCNT1,"[KCa4.1, KIAA1422, SLACK, Sequence like a calcium-activated K+ channel, Slo2.2]",potassium sodium-activated channel subfamily T member 1,gene with protein product,9q34.3,The molecular basis of the disorder is known,Unknown,,608167,ENSG00000107147,objectId:385,Q5JUK3,,HGNC:18865 +GARD:0015892,Orphanet+OMIM,615006,OMIM:615006,1,ST3GAL3,"[N-acetyllactosaminide alpha-2;3-sialyltransferase, ST3Gal III]","ST3 beta-galactoside alpha-2,3-sialyltransferase 3",gene with protein product,1p34.1,The molecular basis of the disorder is known,Unknown,,606494,ENSG00000126091,,Q11203,Q11203,HGNC:10866 +GARD:0015893,Orphanet+OMIM,615007,OMIM:615007,1,PDGFRB,"[CD140b, JTK12, PDGFR1]",platelet derived growth factor receptor beta,gene with protein product,5q32,The molecular basis of the disorder is known,Unknown,,173410,ENSG00000113721,objectId:1804,P09619,P09619,HGNC:8804 +GARD:0015894,Orphanet+OMIM,615010,OMIM:615010,1,ADAR,"[ADAR1, DRADA, Double-stranded RNA-specific adenosine deaminase]",adenosine deaminase RNA specific,gene with protein product,1q21.3,The molecular basis of the disorder is known,Unknown,,146920,ENSG00000160710,,P55265,P55265,HGNC:225 +GARD:0015895,Orphanet+OMIM,615022,OMIM:615022,1,ARCI7,,"Ichthyosis, congenital, autosomal recessive 7",unknown,12p11.2-q13.1,The disease phenotype itself was mapped,Unknown,,615022,,,,,GeneID:101202686 +GARD:0015896,Orphanet+OMIM,615023,OMIM:615023,1,CERS3,[MGC27091],ceramide synthase 3,gene with protein product,15q26.3,The molecular basis of the disorder is known,Unknown,,615276,ENSG00000154227,objectId:2476,Q8IU89,Q8IU89,HGNC:23752 +GARD:0015897,Orphanet+OMIM,615024,OMIM:615024,1,PNPLA1,"[FLJ38755, dJ50J22.1]",patatin like phospholipase domain containing 1,gene with protein product,6p21.31,The molecular basis of the disorder is known,Unknown,,612121,ENSG00000180316,,Q8N8W4,,HGNC:21246 +GARD:0015898,Orphanet+OMIM,615041,OMIM:615041,1,RXYLT1,[HP10481],ribitol xylosyltransferase 1,gene with protein product,12q14.2,The molecular basis of the disorder is known,Unknown,,605862,ENSG00000118600,,Q9Y2B1,,HGNC:13530 +GARD:0015899,Orphanet+OMIM,615058,OMIM:615058,1,LRIT3,"[CSNB1F, FIGLER4, FLJ44691, fibronectin type III, immunoglobulin and leucine rich repeat domains 4]","leucine rich repeat, Ig-like and transmembrane domains 3",gene with protein product,4q25,The molecular basis of the disorder is known,Unknown,,615004,ENSG00000183423,,Q3SXY7,,HGNC:24783 +GARD:0015900,Orphanet+OMIM,615059,OMIM:615059,1,SNRPE,[Sm-E],small nuclear ribonucleoprotein polypeptide E,gene with protein product,1q32.1,The molecular basis of the disorder is known,Unknown,,128260,ENSG00000182004,,P62304,P62304,HGNC:11161 +GARD:0015901,Orphanet+OMIM,615066,OMIM:615066,1,TMEM38B,"[D4Ertd89e, FLJ10493, TRIC-B, bA219P18.1]",transmembrane protein 38B,gene with protein product,9q31.2,The molecular basis of the disorder is known,Unknown,,611236,ENSG00000095209,,Q9NVV0,,HGNC:25535 +GARD:0015902,Orphanet+OMIM,615067,OMIM:615067,1,ODAD1,"[CILD20, FLJ32926]",outer dynein arm docking complex subunit 1,gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,615038,ENSG00000105479,,Q96M63,,HGNC:26560 +GARD:0015903,Orphanet+OMIM,615072,OMIM:615072,1,GDF5,"[BMP14, CDMP1, cartilage-derived morphogenetic protein-1]",growth differentiation factor 5,gene with protein product,20q11.22,The molecular basis of the disorder is known,Unknown,,601146,ENSG00000125965,ligandId:4879,P43026,P43026,HGNC:4220 +GARD:0015904,Orphanet+OMIM,615081,OMIM:615081,1,KLHL10,[FLJ32662],kelch like family member 10,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,608778,ENSG00000161594,,Q6JEL2,,HGNC:18829 +GARD:0015905,Orphanet+OMIM,615085,OMIM:615085,1,SNX10,,sorting nexin 10,gene with protein product,7p15.2,The molecular basis of the disorder is known,Unknown,,614780,ENSG00000086300,,Q9Y5X0,,HGNC:14974 +GARD:0015906,Orphanet+OMIM,615092,OMIM:615092,1,MIB1,"[DAPK-interacting protein 1, DIP-1, KIAA1323, MIB, ZZANK2, ZZZ6]",MIB E3 ubiquitin protein ligase 1,gene with protein product,18q11.2,The molecular basis of the disorder is known,Unknown,,608677,ENSG00000101752,,Q86YT6,Q86YT6,HGNC:21086 +GARD:0015907,Orphanet+OMIM,615112,OMIM:615112,1,LRIG2,[KIAA0806],leucine rich repeats and immunoglobulin like domains 2,gene with protein product,1p13.2,The molecular basis of the disorder is known,Unknown,,608869,ENSG00000198799,,O94898,,HGNC:20889 +GARD:0015908,Orphanet+OMIM,615120,OMIM:615120,1,AGRN,,agrin,gene with protein product,1p36.33,The molecular basis of the disorder is known,Unknown,,103320,ENSG00000188157,ligandId:5319,O00468,O00468,HGNC:329 +GARD:0015909,Orphanet+OMIM,615145,OMIM:615145,1,TENM3,"[KIAA1455, TEN3, Ten-M3]",teneurin transmembrane protein 3,gene with protein product,4q34.3-q35.1,The molecular basis of the disorder is known,Unknown,,610083,ENSG00000218336,,Q9P273,,HGNC:29944 +GARD:0015910,Orphanet+OMIM,615157,OMIM:615157,1,TTC19,"[FLJ20343, MGC19520, Tetratricopeptide repeat protein 19, mitochondrial]",tetratricopeptide repeat domain 19,gene with protein product,17p12,The molecular basis of the disorder is known,Unknown,,613814,ENSG00000011295,,Q6DKK2,,HGNC:26006 +GARD:0015911,Orphanet+OMIM,615158,OMIM:615158,1,UQCRB,"[QCR7, QP-C, UQCR6, complex III subunit VI, cytochrome b-c1 complex subunit 7, ubiquinol-cytochrome c reductase]",ubiquinol-cytochrome c reductase binding protein,gene with protein product,8q22.1,The molecular basis of the disorder is known,Unknown,,191330,ENSG00000156467,,P14927,P14927,HGNC:12582 +GARD:0015912,Orphanet+OMIM,615159,OMIM:615159,1,UQCRQ,"[QCR8, QP-C, UQCR7, complex III subunit 8, complex III subunit VII, ubiquinol-cytochrome c reductase]",ubiquinol-cytochrome c reductase complex III subunit VII,gene with protein product,5q31.1,The molecular basis of the disorder is known,Unknown,,612080,ENSG00000164405,,O14949,O14949,HGNC:29594 +GARD:0015913,Orphanet+OMIM,615160,OMIM:615160,1,UQCRC2,"[QCR2, UQCR2]",ubiquinol-cytochrome c reductase core protein 2,gene with protein product,16p12.2,The molecular basis of the disorder is known,Unknown,,191329,ENSG00000140740,,P22695,P22695,HGNC:12586 +GARD:0015914,Orphanet+OMIM,615163,OMIM:615163,1,CORD17,,Cone-rod dystrophy 17,unknown,10q26,The disease phenotype itself was mapped,Unknown,,615163,,,,,GeneID:101409267 +GARD:0015915,Orphanet+OMIM,615181,OMIM:615181,1,B3GALNT2,[MGC39558],"beta-1,3-N-acetylgalactosaminyltransferase 2",gene with protein product,1q42.3,The molecular basis of the disorder is known,Unknown,,610194,ENSG00000162885,,Q8NCR0,Q8NCR0,HGNC:28596 +GARD:0015916,Orphanet+OMIM,615184,OMIM:615184,1,CRYAB,[HSPB5],crystallin alpha B,gene with protein product,11q23.1,The molecular basis of the disorder is known,Unknown,,123590,ENSG00000109846,,P02511,P02511,HGNC:2389 +GARD:0015917,Orphanet+OMIM,615190,OMIM:615190,1,RTEL1,"[DKFZP434C013, KIAA1088, NHL, RTEL, bK3184A7.3]",regulator of telomere elongation helicase 1,gene with protein product,20q13.33,The molecular basis of the disorder is known,Unknown,,608833,ENSG00000258366,,Q9NZ71,Q9NZ71,HGNC:15888 +GARD:0015918,Orphanet+OMIM,615214,OMIM:615214,1,PIK3R1,"[GRB1, PI3 kinase-associated p85, growth factor receptor bound 1, p85, p85-ALPHA, p85alpha, phosphoinositide-3-kinase regulatory subunit alpha]",phosphoinositide-3-kinase regulatory subunit 1,gene with protein product,5q13.1,The molecular basis of the disorder is known,Unknown,,171833,ENSG00000145675,objectId:2503,P27986,P27986,HGNC:8979 +GARD:0015919,Orphanet+OMIM,615220,OMIM:615220,1,WNT1,,Wnt family member 1,gene with protein product,12q13.12,The molecular basis of the disorder is known,Unknown,,164820,ENSG00000125084,ligandId:3672,P04628,P04628,HGNC:12774 +GARD:0015920,Orphanet+OMIM,615221,OMIM:615221,1,WNT1,,Wnt family member 1,gene with protein product,12q13.12,The molecular basis of the disorder is known,Unknown,,164820,ENSG00000125084,ligandId:3672,P04628,P04628,HGNC:12774 +GARD:0015921,Orphanet+OMIM,615222,OMIM:615222,1,RAB33B,[DKFZP434G099],"RAB33B, member RAS oncogene family",gene with protein product,4q31.1,The molecular basis of the disorder is known,Unknown,,605950,ENSG00000172007,,Q9H082,Q9H082,HGNC:16075 +GARD:0015922,Orphanet+OMIM,615224,OMIM:615224,1,CSNK1D,"[CKID, CKIdelta, HCKID]",casein kinase 1 delta,gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,600864,ENSG00000141551,objectId:1997,P48730,P48730,HGNC:2452 +GARD:0015923,Orphanet+OMIM,615233,OMIM:615233,1,RBP3,"[D10S64, D10S65, D10S66, RP66, interstitial retinol-binding protein 3]",retinol binding protein 3,gene with protein product,10q11.22,The molecular basis of the disorder is known,Unknown,,180290,ENSG00000265203,objectId:2548,P10745,P10745,HGNC:9921 +GARD:0015924,Orphanet+OMIM,615235,OMIM:615235,1,LAMA4,[LAMA3],laminin subunit alpha 4,gene with protein product,6q21,The molecular basis of the disorder is known,Unknown,,600133,ENSG00000112769,,Q16363,Q16363,HGNC:6484 +GARD:0015925,Orphanet+OMIM,615244,OMIM:615244,1,ARHGDIA,[RHOGDI],Rho GDP dissociation inhibitor alpha,gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,601925,ENSG00000141522,,P52565,P52565,HGNC:678 +GARD:0015926,Orphanet+OMIM,615248,OMIM:615248,1,MYPN,"[145 kDa, MYOP, sarcomeric protein myopalladin]",myopalladin,gene with protein product,10q21.3,The molecular basis of the disorder is known,Unknown,,608517,ENSG00000138347,,Q86TC9,,HGNC:23246 +GARD:0015927,Orphanet+OMIM,615249,OMIM:615249,1,POMK,"[FLJ23356, SgK196]",protein O-mannose kinase,gene with protein product,8p11.21,The molecular basis of the disorder is known,Unknown,,615247,ENSG00000185900,,Q9H5K3,Q9H5K3,HGNC:26267 +GARD:0015928,Orphanet+OMIM,615266,OMIM:615266,1,SPRY4,,sprouty RTK signaling antagonist 4,gene with protein product,5q31.3,The molecular basis of the disorder is known,Unknown,,607984,ENSG00000187678,,Q9C004,,HGNC:15533 +GARD:0015929,Orphanet+OMIM,615267,OMIM:615267,1,IL17RD,"[FLJ35755, IL-17RD, IL17RLM, SEF, similar expression to fgf genes]",interleukin 17 receptor D,gene with protein product,3p14.3,The molecular basis of the disorder is known,Unknown,,606807,ENSG00000144730,objectId:1741,Q8NFM7,Q8NFM7,HGNC:17616 +GARD:0015930,Orphanet+OMIM,615268,OMIM:615268,1,ATP8A2,"[ATPIB, ML-1]",ATPase phospholipid transporting 8A2,gene with protein product,13q12.13,The molecular basis of the disorder is known,Unknown,,605870,ENSG00000132932,objectId:855,Q9NTI2,Q9NTI2,HGNC:13533 +GARD:0015931,Orphanet+OMIM,615269,OMIM:615269,1,DUSP6,"[MKP-3, PYST1]",dual specificity phosphatase 6,gene with protein product,12q21.33,The molecular basis of the disorder is known,Unknown,,602748,ENSG00000139318,,Q16828,Q16828,HGNC:3072 +GARD:0015932,Orphanet+OMIM,615270,OMIM:615270,1,FGF17,[FGF-13],fibroblast growth factor 17,gene with protein product,8p21.3,The molecular basis of the disorder is known,Unknown,,603725,ENSG00000158815,,O60258,O60258,HGNC:3673 +GARD:0015933,Orphanet+OMIM,615271,OMIM:615271,1,FLRT3,,fibronectin leucine rich transmembrane protein 3,gene with protein product,20p12.1,The molecular basis of the disorder is known,Unknown,,604808,ENSG00000125848,,Q9NZU0,Q9NZU0,HGNC:3762 +GARD:0015934,Orphanet+OMIM,615272,OMIM:615272,1,ERCC4,"[FANCQ, RAD1, complementation group F, xeroderma pigmentosum]","ERCC excision repair 4, endonuclease catalytic subunit",gene with protein product,16p13.12,The molecular basis of the disorder is known,Unknown,,133520,ENSG00000175595,,Q92889,Q92889,HGNC:3436 +GARD:0015935,Orphanet+OMIM,615278,OMIM:615278,1,KRAS,"[K-Ras4B, KRAS1]","KRAS proto-oncogene, GTPase",gene with protein product,12p12.1,The molecular basis of the disorder is known,Unknown,,190070,ENSG00000133703,objectId:2824,P01116,P01116,HGNC:6407 +GARD:0015936,Orphanet+OMIM,615279,OMIM:615279,1,MAP2K1,"[MAPKK1, MEK1]",mitogen-activated protein kinase kinase 1,gene with protein product,15q22.31,The molecular basis of the disorder is known,Unknown,,176872,ENSG00000169032,objectId:2062,Q02750,Q02750,HGNC:6840 +GARD:0015937,Orphanet+OMIM,615280,OMIM:615280,1,MAP2K2,[MEK2],mitogen-activated protein kinase kinase 2,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,601263,ENSG00000126934,objectId:2063,P36507,P36507,HGNC:6842 +GARD:0015938,Orphanet+OMIM,615287,OMIM:615287,1,B4GAT1,"[B3GN-T1, BETA3GNTI, IGnT, N-acetyllactosaminide beta-1;3-N-acetylglucosaminyltransferase, iGAT]","beta-1,4-glucuronyltransferase 1",gene with protein product,11q13.2,The molecular basis of the disorder is known,Unknown,,605517,ENSG00000174684,,O43505,O43505,HGNC:15685 +GARD:0015939,Orphanet+OMIM,615293,OMIM:615293,1,NOTCH3,[CASIL],notch receptor 3,gene with protein product,19p13.12,The molecular basis of the disorder is known,Unknown,,600276,ENSG00000074181,objectId:2860,Q9UM47,Q9UM47,HGNC:7883 +GARD:0015940,Orphanet+OMIM,615294,OMIM:615294,1,DRC1,"[CILD21, FLJ32660, MGC16372]",dynein regulatory complex subunit 1,gene with protein product,2p23.3,The molecular basis of the disorder is known,Unknown,,615288,ENSG00000157856,,Q96MC2,,HGNC:24245 +GARD:0015941,Orphanet+OMIM,615297,OMIM:615297,1,EOGT,"[AER61, AER61 glycosyltransferase, FLJ33770]",EGF domain specific O-linked N-acetylglucosamine transferase,gene with protein product,3p14.1,The molecular basis of the disorder is known,Unknown,,614789,ENSG00000163378,,Q5NDL2,,HGNC:28526 +GARD:0015942,Orphanet+OMIM,615298,OMIM:615298,1,GDF5,"[BMP14, CDMP1, cartilage-derived morphogenetic protein-1]",growth differentiation factor 5,gene with protein product,20q11.22,The molecular basis of the disorder is known,Unknown,,601146,ENSG00000125965,ligandId:4879,P43026,P43026,HGNC:4220 +GARD:0015943,Orphanet+OMIM,615300,OMIM:615300,1,LARS2,"[KIAA0028, LEURS, MGC26121, leucine tRNA ligase 2, mitochondrial, mtLeuRS]","leucyl-tRNA synthetase 2, mitochondrial",gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,604544,ENSG00000011376,,Q15031,Q15031,HGNC:17095 +GARD:0015944,Orphanet+OMIM,615327,OMIM:615327,1,POFUT1,"[FUT12, GDP-fucose protein O-fucosyltransferase 1, KIAA0180, O-FUT, O-Fuc-T, peptide-O-fucosyltransferase]",protein O-fucosyltransferase 1,gene with protein product,20q11.21,The molecular basis of the disorder is known,Unknown,,607491,ENSG00000101346,,Q9H488,Q9H488,HGNC:14988 +GARD:0015945,Orphanet+OMIM,615338,OMIM:615338,1,TBC1D24,"[DFNA65, KIAA1171, TBC/LysM-associated domain containing 6, TLDC6, autosomal dominant 65, deafness, skywalker homolog (Drosophila)]",TBC1 domain family member 24,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,613577,ENSG00000162065,,Q9ULP9,Q9ULP9,HGNC:29203 +GARD:0015946,Orphanet+OMIM,615348,OMIM:615348,1,KLHL40,"[NEM8, SRYP, nemaline myopathy type 8, sarcosynapsin]",kelch like family member 40,gene with protein product,3p22.1,The molecular basis of the disorder is known,Unknown,,615340,ENSG00000157119,,Q2TBA0,,HGNC:30372 +GARD:0015947,Orphanet+OMIM,615349,OMIM:615349,1,B3GALT6,"[beta-1;3-galactosyltransferase-6, beta3GalT6]","beta-1,3-galactosyltransferase 6",gene with protein product,1p36.33,The molecular basis of the disorder is known,Unknown,,615291,ENSG00000176022,,Q96L58,Q96L58,HGNC:17978 +GARD:0015948,Orphanet+OMIM,615350,OMIM:615350,1,GMPPB,"[KIAA1851, mannose-1-phosphate guanyltransferase beta]",GDP-mannose pyrophosphorylase B,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,615320,ENSG00000173540,,Q9Y5P6,Q9Y5P6,HGNC:22932 +GARD:0015949,Orphanet+OMIM,615355,OMIM:615355,1,RIT1,"[GTP-binding protein Roc1, MGC125864, MGC125865, RIBB, ROC1, Ric-like, expressed in many tissues]",Ras like without CAAX 1,gene with protein product,1q22,The molecular basis of the disorder is known,Unknown,,609591,ENSG00000143622,,Q92963,Q92963,HGNC:10023 +GARD:0015950,Orphanet+OMIM,615360,OMIM:615360,1,GDF6,"[BMP13, KFS, KFS1]",growth differentiation factor 6,gene with protein product,8q22.1,The molecular basis of the disorder is known,Unknown,,601147,ENSG00000156466,ligandId:4878,Q6KF10,,HGNC:4221 +GARD:0015951,Orphanet+OMIM,615361,OMIM:615361,1,GNA11,"[FBH, FBH2, FHH2]",G protein subunit alpha 11,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,139313,ENSG00000088256,,P29992,P29992,HGNC:4379 +GARD:0015952,Orphanet+OMIM,615373,OMIM:615373,1,PRDM16,"[KIAA1675, KMT8F, MDS1/EVI1-like, MEL1, MGC166915, PFM13, PR-domain zinc finger protein 16, transcription factor MEL1]",PR/SET domain 16,gene with protein product,1p36.32,The molecular basis of the disorder is known,Unknown,,605557,ENSG00000142611,,Q9HAZ2,Q9HAZ2,HGNC:14000 +GARD:0015953,Orphanet+OMIM,615374,OMIM:615374,1,RAB28,,"RAB28, member RAS oncogene family",gene with protein product,4p15.33,The molecular basis of the disorder is known,Unknown,,612994,ENSG00000157869,,P51157,,HGNC:9768 +GARD:0015954,Orphanet+OMIM,615377,OMIM:615377,1,SCN1B,,sodium voltage-gated channel beta subunit 1,gene with protein product,19q13.11,The molecular basis of the disorder is known,Unknown,,600235,ENSG00000105711,,Q07699,Q07699,HGNC:10586 +GARD:0015955,Orphanet+OMIM,615378,OMIM:615378,1,SCN2B,,sodium voltage-gated channel beta subunit 2,gene with protein product,11q23.3,The molecular basis of the disorder is known,Unknown,,601327,ENSG00000149575,,O60939,O60939,HGNC:10589 +GARD:0015956,Orphanet+OMIM,615396,OMIM:615396,1,MYBPC3,"[FHC, cMyBP-C]",myosin binding protein C3,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,600958,ENSG00000134571,objectId:2880,Q14896,Q14896,HGNC:7551 +GARD:0015957,Orphanet+OMIM,615397,OMIM:615397,1,TMEM231,"[ALYE870, FLJ22167, JBTS20, MKS11, PRO1886]",transmembrane protein 231,gene with protein product,16q23.1,The molecular basis of the disorder is known,Unknown,,614949,ENSG00000205084,,Q9H6L2,,HGNC:37234 +GARD:0015958,Orphanet+OMIM,615399,OMIM:615399,1,PIGT,"[GPI transamidase component PIG-T, GPI transamidase subunit, PIG-T]",phosphatidylinositol glycan anchor biosynthesis class T,gene with protein product,20q13.12,The molecular basis of the disorder is known,Unknown,,610272,ENSG00000124155,,Q969N2,Q969N2,HGNC:14938 +GARD:0015959,Orphanet+OMIM,615402,OMIM:615402,1,ABCB6,"[ATP-binding cassette half-transporter, EST45597, MTABC3, umat]",ATP binding cassette subfamily B member 6 (Langereis blood group),gene with protein product,2q35,The molecular basis of the disorder is known,Unknown,,605452,ENSG00000115657,objectId:773,Q9NP58,Q9NP58,HGNC:47 +GARD:0015960,Orphanet+OMIM,615413,OMIM:615413,1,NANOS1,"[NOS1, ZC2HC12A]",nanos C2HC-type zinc finger 1,gene with protein product,10q26.11,The molecular basis of the disorder is known,Unknown,,608226,ENSG00000188613,,Q8WY41,,HGNC:23044 +GARD:0015961,Orphanet+OMIM,615418,OMIM:615418,1,SLC25A4,"[AAC1, ADP/ATP carrier 1, ADP/ATP translocase 1, T1]",solute carrier family 25 member 4,gene with protein product,4q35.1,The molecular basis of the disorder is known,Unknown,,103220,ENSG00000151729,objectId:1062,P12235,P12235,HGNC:10990 +GARD:0015962,Orphanet+OMIM,615422,OMIM:615422,1,HNRNPA2B1,,heterogeneous nuclear ribonucleoprotein A2/B1,gene with protein product,7p15.2,The molecular basis of the disorder is known,Unknown,,600124,ENSG00000122566,,P22626,P22626,HGNC:5033 +GARD:0015963,Orphanet+OMIM,615424,OMIM:615424,1,HNRNPA1,"[ALS20, hnRNP-A1]",heterogeneous nuclear ribonucleoprotein A1,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,164017,ENSG00000135486,,P09651,P09651,HGNC:5031 +GARD:0015964,Orphanet+OMIM,615426,OMIM:615426,1,HNRNPA1,"[ALS20, hnRNP-A1]",heterogeneous nuclear ribonucleoprotein A1,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,164017,ENSG00000135486,,P09651,P09651,HGNC:5031 +GARD:0015965,Orphanet+OMIM,615434,OMIM:615434,1,ARL2BP,"[BART, BART1, binder of Arl2]",ADP ribosylation factor like GTPase 2 binding protein,gene with protein product,16q13,The molecular basis of the disorder is known,Unknown,,615407,ENSG00000102931,,Q9Y2Y0,Q9Y2Y0,HGNC:17146 +GARD:0015966,Orphanet+OMIM,615436,OMIM:615436,1,PRKG1,"[PGK, PKG, PKG1]",protein kinase cGMP-dependent 1,gene with protein product,10q11.23-q21.1,The molecular basis of the disorder is known,Unknown,,176894,ENSG00000185532,objectId:1492,Q13976,Q13976,HGNC:9414 +GARD:0015967,Orphanet+OMIM,615441,OMIM:615441,1,TRDN,"[TRISK, triadin in skeletal muscle]",triadin,gene with protein product,6q22.31,The molecular basis of the disorder is known,Unknown,,603283,ENSG00000186439,,Q13061,Q13061,HGNC:12261 +GARD:0015968,Orphanet+OMIM,615444,OMIM:615444,1,ZMYND10,"[22, BLU, CILD22, Ciliary dyskinesia, DNAAF7, dynein axonemal assembly factor 7, primary, tumor suppressor BLU]",zinc finger MYND-type containing 10,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,607070,ENSG00000004838,,O75800,,HGNC:19412 +GARD:0015969,Orphanet+OMIM,615451,OMIM:615451,1,ODAD2,"[CILD23, DKFZP434P1735, FLJ10376, FLJ10817, gudu]",outer dynein arm docking complex subunit 2,gene with protein product,10p12.1,The molecular basis of the disorder is known,Unknown,,615408,ENSG00000169126,,Q5T2S8,,HGNC:25583 +GARD:0015970,Orphanet+OMIM,615453,OMIM:615453,1,CYC1,[UQCR4],cytochrome c1,gene with protein product,8q24.3,The molecular basis of the disorder is known,Unknown,,123980,ENSG00000179091,,P08574,P08574,HGNC:2579 +GARD:0015971,Orphanet+OMIM,615481,OMIM:615481,1,RSPH1,"[CILD24, FLJ32753, RSP44, RSPH10A, meichroacidin]",radial spoke head component 1,gene with protein product,21q22.3,The molecular basis of the disorder is known,Unknown,,609314,ENSG00000160188,,Q8WYR4,,HGNC:12371 +GARD:0015972,Orphanet+OMIM,615482,OMIM:615482,1,DNAAF4,"[CILD25, EKN1, FLJ37882, assembly factor 4, axonemal, dynein]",dynein axonemal assembly factor 4,gene with protein product,15q21.3,The molecular basis of the disorder is known,Unknown,,608706,ENSG00000256061,,Q8WXU2,,HGNC:21493 +GARD:0015973,Orphanet+OMIM,615483,OMIM:615483,1,PDGFB,"[SSV, becaplermin, oncogene SIS]",platelet derived growth factor subunit B,gene with protein product,22q13.1,The molecular basis of the disorder is known,Unknown,,190040,ENSG00000100311,ligandId:5043,P01127,P01127,HGNC:8800 +GARD:0015974,Orphanet+OMIM,615500,OMIM:615500,1,CFAP298,"[CILD26, DNAAF16, FBB18, FLJ20467, Kur, dynein axonemal assembly factor 16, kurly homolog (zebrafish)]",cilia and flagella associated protein 298,gene with protein product,21q22.11,The molecular basis of the disorder is known,Unknown,,615494,ENSG00000159079,,P57076,,HGNC:1301 +GARD:0015975,Orphanet+OMIM,615503,OMIM:615503,1,DYNC2I1,"[CFAP163, DIC6, FAP163, FLJ10300]",dynein 2 intermediate chain 1,gene with protein product,7q36.3,The molecular basis of the disorder is known,Unknown,,615462,ENSG00000126870,,Q8WVS4,Q8WVS4,HGNC:21862 +GARD:0015976,Orphanet+OMIM,615504,OMIM:615504,1,CCDC65,"[CFAP250, CILD27, DRC2, FAP250, FLJ35732, NYD-SP28]",coiled-coil domain containing 65,gene with protein product,12q13.12,The molecular basis of the disorder is known,Unknown,,611088,ENSG00000139537,,Q8IXS2,,HGNC:29937 +GARD:0015977,Orphanet+OMIM,615505,OMIM:615505,1,SPAG1,"[CILD28, CT140, DNAAF13, FLJ32920, HSD-3.8, SP75, TPIS, dynein axonemal assembly factor 13]",sperm associated antigen 1,gene with protein product,8q22.2,The molecular basis of the disorder is known,Unknown,,603395,ENSG00000104450,,Q07617,,HGNC:11212 +GARD:0015978,Orphanet+OMIM,615506,OMIM:615506,1,GDF2,"[BMP-9, BMP9]",growth differentiation factor 2,gene with protein product,10q11.22,The molecular basis of the disorder is known,Unknown,,605120,ENSG00000263761,ligandId:4889,Q9UK05,Q9UK05,HGNC:4217 +GARD:0015979,Orphanet+OMIM,615513,OMIM:615513,1,PIK3CD,"[catalytic, delta polypeptide, p110D, phosphatidylinositol 3-kinase, phosphoinositide-3-kinase C]","phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta",gene with protein product,1p36.22,The molecular basis of the disorder is known,Unknown,,602839,ENSG00000171608,objectId:2155,O00329,O00329,HGNC:8977 +GARD:0015980,Orphanet+OMIM,615515,OMIM:615515,1,ERBB4,"[ALS19, HER4, human epidermal growth factor receptor 4]",erb-b2 receptor tyrosine kinase 4,gene with protein product,2q34,The molecular basis of the disorder is known,Unknown,,600543,ENSG00000178568,objectId:1799,Q15303,Q15303,HGNC:3432 +GARD:0015981,Orphanet+OMIM,615527,OMIM:615527,1,TRAF3IP2,"[ACT1, CIKS, DKFZP586G0522]",TRAF3 interacting protein 2,gene with protein product,6q21,The molecular basis of the disorder is known,Unknown,,607043,ENSG00000056972,,O43734,,HGNC:1343 +GARD:0015982,Orphanet+OMIM,615539,OMIM:615539,1,DSE,"[DS-Epi1, DSEPI]",dermatan sulfate epimerase,gene with protein product,6q22.1,The molecular basis of the disorder is known,Unknown,,605942,ENSG00000111817,,Q9UL01,Q9UL01,HGNC:21144 +GARD:0015983,Orphanet+OMIM,615544,OMIM:615544,1,ERMARD,"[FLJ11152, dJ266L20.3]",ER membrane associated RNA degradation,gene with protein product,6q27,The molecular basis of the disorder is known,Unknown,,615532,ENSG00000130023,,Q5T6L9,,HGNC:21056 +GARD:0015984,Orphanet+OMIM,615546,OMIM:615546,1,FAT4,"[CDHF14, CDHR11, FAT-J, cadherin-related family member 11]",FAT atypical cadherin 4,gene with protein product,4q28.1,The molecular basis of the disorder is known,Unknown,,612411,ENSG00000196159,,Q6V0I7,,HGNC:23109 +GARD:0015985,Orphanet+OMIM,615550,OMIM:615550,1,RPL15,"[EC45, L15, RPL10, RPLY10, RPYL10]",ribosomal protein L15,gene with protein product,3p24.2,The molecular basis of the disorder is known,Unknown,,604174,ENSG00000174748,,P61313,P61313,HGNC:10306 +GARD:0015986,Orphanet+OMIM,615557,OMIM:615557,1,TLR5,"[FLJ10052, MGC126430, MGC126431, TIL3, Toll/interleukin-1 receptor-like protein 3]",toll like receptor 5,gene with protein product,1q41,The molecular basis of the disorder is known,Unknown,,603031,ENSG00000187554,objectId:1755,O60602,O60602,HGNC:11851 +GARD:0015987,Orphanet+OMIM,615559,OMIM:615559,1,PRKCD,,protein kinase C delta,gene with protein product,3p21.1,The molecular basis of the disorder is known,Unknown,,176977,ENSG00000163932,objectId:1485,Q05655,Q05655,HGNC:9399 +GARD:0015988,Orphanet+OMIM,615565,OMIM:615565,1,NEK2,"[HsPK 21, NEK2A, NLK1, PPP1R111, RP67, protein phosphatase 1, regulatory subunit 111]",NIMA related kinase 2,gene with protein product,1q32.3,The molecular basis of the disorder is known,Unknown,,604043,ENSG00000117650,objectId:2117,P51955,P51955,HGNC:7745 +GARD:0015989,Orphanet+OMIM,615573,OMIM:615573,1,COQ8B,"[COQ8, FLJ12229]",coenzyme Q8B,gene with protein product,19q13.2,The molecular basis of the disorder is known,Unknown,,615567,ENSG00000123815,objectId:1928,Q96D53,,HGNC:19041 +GARD:0015990,Orphanet+OMIM,615577,OMIM:615577,1,NFKB2,"[LYT-10, NF-kB2, p105, p49/p100, p52]",nuclear factor kappa B subunit 2,gene with protein product,10q24.32,The molecular basis of the disorder is known,Unknown,,164012,ENSG00000077150,,Q00653,Q00653,HGNC:7795 +GARD:0015991,Orphanet+OMIM,615605,OMIM:615605,1,EHHADH,,enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase,gene with protein product,3q27.2,The molecular basis of the disorder is known,Unknown,,607037,ENSG00000113790,,Q08426,Q08426,HGNC:3247 +GARD:0015993,Orphanet+OMIM,615630,OMIM:615630,1,IFT172,"[BBS20, NPHP17, SLB, osm-1, wim, wimple homolog]",intraflagellar transport 172,gene with protein product,2p23.3,The molecular basis of the disorder is known,Unknown,,607386,ENSG00000138002,,Q9UG01,Q9UG01,HGNC:30391 +GARD:0015994,Orphanet+OMIM,615631,OMIM:615631,1,CDIN1,"[FLJ22851, HH114, MGC11326]",CDAN1 interacting nuclease 1,gene with protein product,15q14,The molecular basis of the disorder is known,Unknown,,615626,ENSG00000186073,,Q9Y2V0,,HGNC:26929 +GARD:0015995,Orphanet+OMIM,615632,OMIM:615632,1,ATL3,[DKFZP564J0863],atlastin GTPase 3,gene with protein product,11q13.1,The molecular basis of the disorder is known,Unknown,,609369,ENSG00000184743,,Q6DD88,,HGNC:24526 +GARD:0015996,Orphanet+OMIM,615633,OMIM:615633,1,DYNC2I2,"[CFAP133, DIC5, FAP133, MGC20486, bA216B9.3]",dynein 2 intermediate chain 2,gene with protein product,9q34.11,The molecular basis of the disorder is known,Unknown,,613363,ENSG00000119333,,Q96EX3,Q96EX3,HGNC:28296 +GARD:0015997,Orphanet+OMIM,615636,OMIM:615636,1,CSPP1,"[CSPP, CSPP-L, FLJ22490, JBTS21]",centrosome and spindle pole associated protein 1,gene with protein product,8q13.1-q13.2,The molecular basis of the disorder is known,Unknown,,611654,ENSG00000104218,,Q1MSJ5,,HGNC:26193 +GARD:0015998,Orphanet+OMIM,615663,OMIM:615663,1,TBC1D20,[dJ852M4.2],TBC1 domain family member 20,gene with protein product,20p13,The molecular basis of the disorder is known,Unknown,,611663,ENSG00000125875,,Q96BZ9,Q96BZ9,HGNC:16133 +GARD:0015999,Orphanet+OMIM,615665,OMIM:615665,1,PDE6D,"[JBTS22, retinal rod rhodopsin-sensitive cGMP 3';5'-cyclic phosphodiesterase subunit delta]",phosphodiesterase 6D,gene with protein product,2q37.1,The molecular basis of the disorder is known,Unknown,,602676,ENSG00000156973,objectId:1315,O43924,O43924,HGNC:8788 +GARD:0016000,Orphanet+OMIM,615670,OMIM:615670,1,LZTR1,"[BTBD29, LZTR-1]",leucine zipper like transcription regulator 1,gene with protein product,22q11.21,The molecular basis of the disorder is known,Unknown,,600574,ENSG00000099949,,Q8N653,,HGNC:6742 +GARD:0016001,Orphanet+OMIM,615674,OMIM:615674,1,DDD3,,Dowling-Degos disease 3,unknown,17p13.3,The disease phenotype itself was mapped,Unknown,,615674,,,,,GeneID:102997065 +GARD:0016002,Orphanet+OMIM,615696,OMIM:615696,1,POGLUT1,"[9630046K23Rik, KDELC family like 1, KDELCL1, MDS010, MDSRP, MGC32995, Rumi, hCLP46]",protein O-glucosyltransferase 1,gene with protein product,3q13.33,The molecular basis of the disorder is known,Unknown,,615618,ENSG00000163389,,Q8NBL1,Q8NBL1,HGNC:22954 +GARD:0016003,Orphanet+OMIM,615706,OMIM:615706,1,EDN1,[ET1],endothelin 1,gene with protein product,6p24.1,The molecular basis of the disorder is known,Unknown,,131240,ENSG00000078401,ligandId:989,P05305,P05305,HGNC:3176 +GARD:0016004,Orphanet+OMIM,615725,OMIM:615725,1,SLC7A14,"[KIAA1613, PPP1R142, protein phosphatase 1, regulatory subunit 142]",solute carrier family 7 member 14,gene with protein product,3q26.2,The molecular basis of the disorder is known,Unknown,,615720,ENSG00000013293,objectId:895,Q8TBB6,,HGNC:29326 +GARD:0016005,Orphanet+OMIM,615726,OMIM:615726,1,KRT6A,"[CK6C, CK6D, K6C, K6D]",keratin 6A,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,148041,ENSG00000205420,,P02538,P02538,HGNC:6443 +GARD:0016006,Orphanet+OMIM,615728,OMIM:615728,1,KRT6B,,keratin 6B,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,148042,ENSG00000185479,,P04259,P04259,HGNC:6444 +GARD:0016007,Orphanet+OMIM,615731,OMIM:615731,1,KLHL41,"[Krp1, SARCOSIN, sarcomeric muscle protein]",kelch like family member 41,gene with protein product,2q31.1,The molecular basis of the disorder is known,Unknown,,607701,ENSG00000239474,,O60662,O60662,HGNC:16905 +GARD:0016008,Orphanet+OMIM,615744,OMIM:615744,1,GABRA1,"[EJM5, GABA(A) receptor, alpha 1]",gamma-aminobutyric acid type A receptor subunit alpha1,gene with protein product,5q34,The molecular basis of the disorder is known,Unknown,,137160,ENSG00000022355,objectId:404,P14867,P14867,HGNC:4075 +GARD:0016009,Orphanet+OMIM,615752,OMIM:615752,1,ADGRG1,"[TM7LN4, TM7XN1]",adhesion G protein-coupled receptor G1,gene with protein product,16q21,The molecular basis of the disorder is known,Unknown,,604110,ENSG00000205336,objectId:186,Q9Y653,,HGNC:4512 +GARD:0016010,Orphanet+OMIM,615770,OMIM:615770,1,NUP155,"[KIAA0791, N155]",nucleoporin 155,gene with protein product,5p13.2,The molecular basis of the disorder is known,Unknown,,606694,ENSG00000113569,,O75694,O75694,HGNC:8063 +GARD:0016011,Orphanet+OMIM,615780,OMIM:615780,1,KIZ,[HT013],kizuna centrosomal protein,gene with protein product,20p11.23,The molecular basis of the disorder is known,Unknown,,615757,ENSG00000088970,,Q2M2Z5,,HGNC:15865 +GARD:0016012,Orphanet+OMIM,615785,OMIM:615785,1,KRT13,"[CK13, K13, MGC161462, MGC3781, cytokeratin 13, keratin, type I cytoskeletal 13]",keratin 13,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,148065,ENSG00000171401,,P13646,P13646,HGNC:6415 +GARD:0016013,Orphanet+OMIM,615807,OMIM:615807,1,DNA2,[KIAA0083],DNA replication helicase/nuclease 2,gene with protein product,10q21.3,The molecular basis of the disorder is known,Unknown,,601810,ENSG00000138346,,P51530,P51530,HGNC:2939 +GARD:0016014,Orphanet+OMIM,615821,OMIM:615821,1,DSP,"[DPI, DPII, KPPS2, PPKS2]",desmoplakin,gene with protein product,6p24.3,The molecular basis of the disorder is known,Unknown,,125647,ENSG00000096696,,P15924,P15924,HGNC:3052 +GARD:0016015,Orphanet+OMIM,615824,OMIM:615824,1,UQCC2,"[Cbp6, M19, MGC14833, bA6B20.2, cytochrome B protein synthesis 6 homolog (S. cerevisiae)]",ubiquinol-cytochrome c reductase complex assembly factor 2,gene with protein product,6p21.31,The molecular basis of the disorder is known,Unknown,,614461,ENSG00000137288,,Q9BRT2,,HGNC:21237 +GARD:0016016,Orphanet+OMIM,615830,OMIM:615830,2,PPNAD4,,"Pigmented nodular adrenocortical disease, primary, 4",,19p13,The disorder is a chromosome deletion or duplication syndrome,Unknown,,615830,,,,,OMIM:615830 +GARD:0016016,Orphanet+OMIM,615830,OMIM:615830,2,PRKACA,[PKACa],protein kinase cAMP-activated catalytic subunit alpha,gene with protein product,19p13.12,The molecular basis of the disorder is known,Unknown,,601639,ENSG00000072062,objectId:1476,P17612,P17612,HGNC:9380 +GARD:0016017,Orphanet+OMIM,615833,OMIM:615833,1,NECAP1,"[DKFZP566B183, adaptin-ear-binding coat-associated protein 1]",NECAP endocytosis associated 1,gene with protein product,12p13.31,The molecular basis of the disorder is known,Unknown,,611623,ENSG00000089818,,Q8NC96,Q8NC96,HGNC:24539 +GARD:0016018,Orphanet+OMIM,615838,OMIM:615838,1,LYRM7,"[FLJ20796, MZM1L]",LYR motif containing 7,gene with protein product,5q23.3-q31.1,The molecular basis of the disorder is known,Unknown,,615831,ENSG00000186687,,Q5U5X0,,HGNC:28072 +GARD:0016019,Orphanet+OMIM,615841,OMIM:615841,1,TAF4B,"[TAFII105, TATA box binding protein (TBP)-associated factor 4B]",TATA-box binding protein associated factor 4b,gene with protein product,18q11.2,The molecular basis of the disorder is known,Unknown,,601689,ENSG00000141384,,Q92750,Q92750,HGNC:11538 +GARD:0016020,Orphanet+OMIM,615842,OMIM:615842,1,ZMYND15,[DKFZp434N127],zinc finger MYND-type containing 15,gene with protein product,17p13.2,The molecular basis of the disorder is known,Unknown,,614312,ENSG00000141497,,Q9H091,,HGNC:20997 +GARD:0016021,Orphanet+OMIM,615846,OMIM:615846,1,IFIH1,"[Hlcd, IDDM19, MDA-5, MDA5, helicard, melanoma differentiation-associated gene 5]",interferon induced with helicase C domain 1,gene with protein product,2q24.2,The molecular basis of the disorder is known,Unknown,,606951,ENSG00000115267,objectId:2921,Q9BYX4,Q9BYX4,HGNC:18873 +GARD:0016022,Orphanet+OMIM,615860,OMIM:615860,1,TTLL5,"[SRC1 and TIF2-associated modulatory protein, STAMP, tubulin polyglutamylase TTLL5]",tubulin tyrosine ligase like 5,gene with protein product,14q24.3,The molecular basis of the disorder is known,Unknown,,612268,ENSG00000119685,,Q6EMB2,Q6EMB2,HGNC:19963 +GARD:0016023,Orphanet+OMIM,615866,OMIM:615866,1,SOX11,[SRY-related HMG-box gene 11],SRY-box transcription factor 11,gene with protein product,2p25.2,The molecular basis of the disorder is known,Unknown,,600898,ENSG00000176887,,P35716,,HGNC:11191 +GARD:0016024,Orphanet+OMIM,615871,OMIM:615871,1,HCN1,"[BCNG-1, HAC-2]",hyperpolarization activated cyclic nucleotide gated potassium channel 1,gene with protein product,5p12,The molecular basis of the disorder is known,Unknown,,602780,ENSG00000164588,objectId:400,O60741,O60741,HGNC:4845 +GARD:0016025,Orphanet+OMIM,615872,OMIM:615872,1,CCNO,"[FLJ22422, UDG2, UNG2]",cyclin O,gene with protein product,5q11.2,The molecular basis of the disorder is known,Unknown,,607752,ENSG00000152669,,P22674,,HGNC:18576 +GARD:0016026,Orphanet+OMIM,615883,OMIM:615883,1,ORAI1,"[CRACM1, FLJ14466, calcium release-activated calcium modulator 1]",ORAI calcium release-activated calcium modulator 1,gene with protein product,12q24.31,The molecular basis of the disorder is known,Unknown,,610277,ENSG00000276045,objectId:2964,Q96D31,Q96D31,HGNC:25896 +GARD:0016027,Orphanet+OMIM,615885,OMIM:615885,1,RPL21,"[60S ribosomal protein L21, DKFZp686C06101, FLJ27458, L21, MGC104274, MGC104275, MGC71252]",ribosomal protein L21,gene with protein product,13q12.2,The molecular basis of the disorder is known,Unknown,,603636,ENSG00000122026,,P46778,P46778,HGNC:10313 +GARD:0016028,Orphanet+OMIM,615887,OMIM:615887,1,SLC24A4,"[NCKX4, Na/Ca-K exchanger 4]",solute carrier family 24 member 4,gene with protein product,14q32.12,The molecular basis of the disorder is known,Unknown,,609840,ENSG00000140090,objectId:1048,Q8NFF2,Q8NFF2,HGNC:10978 +GARD:0016029,Orphanet+OMIM,615896,OMIM:615896,1,KRT71,"[K6IRS1, KRT6IRS, KRT6IRS1]",keratin 71,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,608245,ENSG00000139648,,Q3SY84,Q3SY84,HGNC:28927 +GARD:0016030,Orphanet+OMIM,615909,OMIM:615909,1,RPS29,"[S29, uS14]",ribosomal protein S29,gene with protein product,14q21.3,The molecular basis of the disorder is known,Unknown,,603633,ENSG00000213741,,P62273,P62273,HGNC:10419 +GARD:0016031,Orphanet+OMIM,615916,OMIM:615916,1,RAF1,"[C-Raf proto-oncogene, CRAF, Raf-1, c-Raf, serine/threonine kinase]","Raf-1 proto-oncogene, serine/threonine kinase",gene with protein product,3p25.2,The molecular basis of the disorder is known,Unknown,,164760,ENSG00000132155,objectId:2184,P04049,P04049,HGNC:9829 +GARD:0016032,Orphanet+OMIM,615922,OMIM:615922,1,PRPF4,"[HPRP4, HPRP4P, PRP4, PRP4/STK/WD splicing factor, Prp4p, SNRNP60, U4/U6 small nuclear ribonucleoprotein Prp4]",pre-mRNA processing factor 4,gene with protein product,9q32,The molecular basis of the disorder is known,Unknown,,607795,ENSG00000136875,,O43172,O43172,HGNC:17349 +GARD:0016033,Orphanet+OMIM,615935,OMIM:615935,1,PTF1A,"[PTF1-p48, bHLHa29, p48]",pancreas associated transcription factor 1a,gene with protein product,10p12.2,The molecular basis of the disorder is known,Unknown,,607194,ENSG00000168267,,Q7RTS3,Q7RTS3,HGNC:23734 +GARD:0016034,Orphanet+OMIM,615954,OMIM:615954,1,ARMC5,[FLJ13063],armadillo repeat containing 5,gene with protein product,16p11.2,The molecular basis of the disorder is known,Unknown,,615549,ENSG00000140691,,Q96C12,,HGNC:25781 +GARD:0016035,Orphanet+OMIM,615959,OMIM:615959,1,SPEG,"[BPEG, KIAA1297, MGC12676, MYLK6, SPEGalpha, SPEGbeta, striated muscle preferentially expressed protein kinase]",striated muscle enriched protein kinase,gene with protein product,2q35,The molecular basis of the disorder is known,Unknown,,615950,ENSG00000072195,objectId:2203,Q15772,,HGNC:16901 +GARD:0016036,Orphanet+OMIM,615973,OMIM:615973,1,POC1B,"[FLJ14923, TUWD12]",POC1 centriolar protein B,gene with protein product,12q21.33,The molecular basis of the disorder is known,Unknown,,614784,ENSG00000139323,,Q8TC44,,HGNC:30836 +GARD:0016037,Orphanet+OMIM,615990,OMIM:615990,1,MKS1,"[BBS13, FLJ20345, POC12, POC12 centriolar protein homolog (Chlamydomonas)]",MKS transition zone complex subunit 1,gene with protein product,17q22,The molecular basis of the disorder is known,Unknown,,609883,ENSG00000011143,,Q9NXB0,Q9NXB0,HGNC:7121 +GARD:0016038,Orphanet+OMIM,615991,OMIM:615991,2,CEP290,"[3H11Ag, BBS14, Bardet-Biedl syndrome 14, CT87, FLJ13615, JBTS5, Joubert syndrome 5, KIAA0373, LCA10, MKS4, Meckel syndrome, NPHP6, POC3, POC3 centriolar protein homolog (Chlamydomonas), SLSN6, cancer/testis antigen 87, nephrocystin-6, rd16, type 4]",centrosomal protein 290,gene with protein product,12q21.32,The molecular basis of the disorder is known,Unknown,,610142,ENSG00000198707,,O15078,O15078,HGNC:29021 +GARD:0016038,Orphanet+OMIM,615991,OMIM:615991,2,TMEM67,"[JBTS6, MGC26979, Meckelin, NPHP11]",transmembrane protein 67,gene with protein product,8q22.1,The molecular basis of the disorder is known,Unknown,,609884,ENSG00000164953,,Q5HYA8,Q5HYA8,HGNC:28396 +GARD:0016039,Orphanet+OMIM,615992,OMIM:615992,1,WDPCP,"[BBS15, CPLANE5, ciliogenesis and planar polarity effector complex subunit 5, fritz, hFrtz]",WD repeat containing planar cell polarity effector,gene with protein product,2p15,The molecular basis of the disorder is known,Unknown,,613580,ENSG00000143951,,O95876,,HGNC:28027 +GARD:0016040,Orphanet+OMIM,615993,OMIM:615993,1,SDCCAG8,"[BBS16, Bardet-Biedl syndrome 16, CCCAP, NPHP10, NY-CO-8, SLSN7, Senior-Loken syndrome 7, centrosomal colon cancer autoantigen protein, nephrocystin 10]",SHH signaling and ciliogenesis regulator SDCCAG8,gene with protein product,1q43-q44,The molecular basis of the disorder is known,Unknown,,613524,ENSG00000054282,,Q86SQ7,Q86SQ7,HGNC:10671 +GARD:0016041,Orphanet+OMIM,615994,OMIM:615994,1,LZTFL1,[BBS17],leucine zipper transcription factor like 1,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,606568,ENSG00000163818,,Q9NQ48,Q9NQ48,HGNC:6741 +GARD:0016042,Orphanet+OMIM,615995,OMIM:615995,1,BBIP1,"[BBIP10, BBS18, bA348N5.3]",BBSome interacting protein 1,gene with protein product,10q25.2,The molecular basis of the disorder is known,Unknown,,613605,ENSG00000214413,,A8MTZ0,A8MTZ0,HGNC:28093 +GARD:0016043,Orphanet+OMIM,615996,OMIM:615996,1,IFT27,"[BBS19, CFAP156, FAP156, RAYL]",intraflagellar transport 27,gene with protein product,22q12.3,The molecular basis of the disorder is known,Unknown,,615870,ENSG00000100360,,Q9BW83,Q9BW83,HGNC:18626 +GARD:0016044,Orphanet+OMIM,616001,OMIM:616001,1,PTPRF,,protein tyrosine phosphatase receptor type F,gene with protein product,1p34.2,The molecular basis of the disorder is known,Unknown,,179590,ENSG00000142949,objectId:1855,P10586,P10586,HGNC:9670 +GARD:0016045,Orphanet+OMIM,616002,OMIM:616002,1,PAX2,[PAX-2],paired box 2,gene with protein product,10q24.31,The molecular basis of the disorder is known,Unknown,,167409,ENSG00000075891,,Q02962,,HGNC:8616 +GARD:0016046,Orphanet+OMIM,616005,OMIM:616005,1,PIK3R1,"[GRB1, PI3 kinase-associated p85, growth factor receptor bound 1, p85, p85-ALPHA, p85alpha, phosphoinositide-3-kinase regulatory subunit alpha]",phosphoinositide-3-kinase regulatory subunit 1,gene with protein product,5q13.1,The molecular basis of the disorder is known,Unknown,,171833,ENSG00000145675,objectId:2503,P27986,P27986,HGNC:8979 +GARD:0016047,Orphanet+OMIM,616006,OMIM:616006,1,FAT4,"[CDHF14, CDHR11, FAT-J, cadherin-related family member 11]",FAT atypical cadherin 4,gene with protein product,4q28.1,The molecular basis of the disorder is known,Unknown,,612411,ENSG00000196159,,Q6V0I7,,HGNC:23109 +GARD:0016048,Orphanet+OMIM,616026,OMIM:616026,1,HNF4A,"[HNF4, NR2A1]",hepatocyte nuclear factor 4 alpha,gene with protein product,20q13.12,The molecular basis of the disorder is known,Unknown,,600281,ENSG00000101076,objectId:608,P41235,P41235,HGNC:5024 +GARD:0016049,Orphanet+OMIM,616028,OMIM:616028,1,NOTCH1,,notch receptor 1,gene with protein product,9q34.3,The molecular basis of the disorder is known,Unknown,,190198,ENSG00000148400,objectId:2861,P46531,P46531,HGNC:7881 +GARD:0016050,Orphanet+OMIM,616030,OMIM:616030,1,FEZF1,,FEZ family zinc finger 1,gene with protein product,7q31.32,The molecular basis of the disorder is known,Unknown,,613301,ENSG00000128610,,A0PJY2,,HGNC:22788 +GARD:0016051,Orphanet+OMIM,616032,OMIM:616032,1,ANLN,"[ANILLIN, Scraps, scra]","anillin, actin binding protein",gene with protein product,7p14.2,The molecular basis of the disorder is known,Unknown,,616027,ENSG00000011426,,Q9NQW6,Q9NQW6,HGNC:14082 +GARD:0016052,Orphanet+OMIM,616037,OMIM:616037,1,ODAD3,"[MGC20983, ODA10]",outer dynein arm docking complex subunit 3,gene with protein product,19p13.2,The molecular basis of the disorder is known,Unknown,,615956,ENSG00000198003,,A5D8V7,,HGNC:28303 +GARD:0016053,Orphanet+OMIM,616040,OMIM:616040,1,SYT2,,synaptotagmin 2,gene with protein product,1q32.1,The molecular basis of the disorder is known,Unknown,,600104,ENSG00000143858,,Q8N9I0,Q8N9I0,HGNC:11510 +GARD:0016054,Orphanet+OMIM,616051,OMIM:616051,1,CENPE,"[KIF10, PPP1R61, protein phosphatase 1, regulatory subunit 61]",centromere protein E,gene with protein product,4q24,The molecular basis of the disorder is known,Unknown,,117143,ENSG00000138778,,Q02224,Q02224,HGNC:1856 +GARD:0016055,Orphanet+OMIM,616059,OMIM:616059,1,DNAL4,"[PIG27, dJ327J16]",dynein axonemal light chain 4,gene with protein product,22q13.1,The molecular basis of the disorder is known,Unknown,,610565,ENSG00000100246,,O96015,O96015,HGNC:2955 +GARD:0016056,Orphanet+OMIM,616063,OMIM:616063,1,SLC17A9,"[FLJ23412, VNUT]",solute carrier family 17 member 9,gene with protein product,20q13.33,The molecular basis of the disorder is known,Unknown,,612107,ENSG00000101194,objectId:1010,Q9BYT1,,HGNC:16192 +GARD:0016057,Orphanet+OMIM,616080,OMIM:616080,1,CDK6,[PLSTIRE],cyclin dependent kinase 6,gene with protein product,7q21.2,The molecular basis of the disorder is known,Unknown,,603368,ENSG00000105810,objectId:1978,Q00534,Q00534,HGNC:1777 +GARD:0016058,Orphanet+OMIM,616081,OMIM:616081,1,EXOSC8,"[CBP-interacting protein 3, CIP3, EAP2, OIP2, Opa interacting protein 2, RRP43, Rrp43p, bA421P11.3, p9]",exosome component 8,gene with protein product,13q13.3,The molecular basis of the disorder is known,Unknown,,606019,ENSG00000120699,,Q96B26,Q96B26,HGNC:17035 +GARD:0016059,Orphanet+OMIM,616106,OMIM:616106,1,AP1S3,"[AP-1 complex subunit sigma 3, sigma1C]",adaptor related protein complex 1 subunit sigma 3,gene with protein product,2q36.1,The molecular basis of the disorder is known,Unknown,,615781,ENSG00000152056,,Q96PC3,Q96PC3,HGNC:18971 +GARD:0016060,Orphanet+OMIM,616111,OMIM:616111,1,UQCC3,[UNQ655],ubiquinol-cytochrome c reductase complex assembly factor 3,gene with protein product,11q12.3,The molecular basis of the disorder is known,Unknown,,616097,ENSG00000204922,,Q6UW78,,HGNC:34399 +GARD:0016061,Orphanet+OMIM,616115,OMIM:616115,1,NLRC4,"[CLAN, CLAN1, CLANA, CLANB, CLANC, CLAND, CLR2.1, NOD-like receptor C4, ipaf, leucine rich repeat and CARD domain containing 4, nucleotide-binding oligomerization domain]",NLR family CARD domain containing 4,gene with protein product,2p22.3,The molecular basis of the disorder is known,Unknown,,606831,ENSG00000091106,objectId:1782,Q9NPP4,Q9NPP4,HGNC:16412 +GARD:0016062,Orphanet+OMIM,616138,OMIM:616138,1,TWNK,"[FLJ21832, PEO, PEO1, T7 helicase-related protein with intramitochondrial nucleoid localization, TWINKLE, TWINL]",twinkle mtDNA helicase,gene with protein product,10q24.31,The molecular basis of the disorder is known,Unknown,,606075,ENSG00000107815,,Q96RR1,Q96RR1,HGNC:1160 +GARD:0016063,Orphanet+OMIM,616139,OMIM:616139,1,GRIN2B,[GluN2B],glutamate ionotropic receptor NMDA type subunit 2B,gene with protein product,12p13.1,The molecular basis of the disorder is known,Unknown,,138252,ENSG00000273079,objectId:457,Q13224,Q13224,HGNC:4586 +GARD:0016064,Orphanet+OMIM,616151,OMIM:616151,1,IMPG1,"[GP147, IPM150]",interphotoreceptor matrix proteoglycan 1,gene with protein product,6q14.1,The molecular basis of the disorder is known,Unknown,,602870,ENSG00000112706,,Q17R60,,HGNC:6055 +GARD:0016065,Orphanet+OMIM,616152,OMIM:616152,1,IMPG2,"[IPM200, RP56, SPACRCAN]",interphotoreceptor matrix proteoglycan 2,gene with protein product,3q12.3,The molecular basis of the disorder is known,Unknown,,607056,ENSG00000081148,,Q9BZV3,,HGNC:18362 +GARD:0016066,Orphanet+OMIM,616165,OMIM:616165,1,LMOD3,,leiomodin 3,gene with protein product,3p14.1,The molecular basis of the disorder is known,Unknown,,616112,ENSG00000163380,,Q0VAK6,,HGNC:6649 +GARD:0016067,Orphanet+OMIM,616166,OMIM:616166,1,MFAP5,"[MAGP2, MP25, microfibril-associated glycoprotein-2]",microfibril associated protein 5,gene with protein product,12p13.31,The molecular basis of the disorder is known,Unknown,,601103,ENSG00000197614,,Q13361,Q13361,HGNC:29673 +GARD:0016068,Orphanet+OMIM,616208,OMIM:616208,1,TUBA4A,"[FLJ30169, H2-ALPHA]",tubulin alpha 4a,gene with protein product,2q35,The molecular basis of the disorder is known,Unknown,,191110,ENSG00000127824,objectId:2639,P68366,P68366,HGNC:12407 +GARD:0016069,Orphanet+OMIM,616211,OMIM:616211,1,WWOX,"[FOR, SDR41C1, WOX1, member 1, short chain dehydrogenase/reductase family 41C]",WW domain containing oxidoreductase,gene with protein product,16q23.1-q23.2,The molecular basis of the disorder is known,Unknown,,605131,ENSG00000186153,,Q9NZC7,Q9NZC7,HGNC:12799 +GARD:0016070,Orphanet+OMIM,616220,OMIM:616220,1,CRB2,"[FLJ16786, FLJ38464]",crumbs cell polarity complex component 2,gene with protein product,9q33.3,The molecular basis of the disorder is known,Unknown,,609720,ENSG00000148204,,Q5IJ48,,HGNC:18688 +GARD:0016071,Orphanet+OMIM,616221,OMIM:616221,1,ITGB6,,integrin subunit beta 6,gene with protein product,2q24.2,The molecular basis of the disorder is known,Unknown,,147558,ENSG00000115221,objectId:2460,P18564,P18564,HGNC:6161 +GARD:0016072,Orphanet+OMIM,616229,OMIM:616229,1,CREB3L1,"[BBF-2 homolog (drosophila), OASIS, old astrocyte specifically induced substance]",cAMP responsive element binding protein 3 like 1,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,616215,ENSG00000157613,,Q96BA8,Q96BA8,HGNC:18856 +GARD:0016073,Orphanet+OMIM,616247,OMIM:616247,1,CALM1,"[CAMI, DD132, PHKD, PHKD1, phosphorylase kinase subunit delta, phosphorylase kinase subunit delta 1, prepro-calmodulin 1]",calmodulin 1,gene with protein product,14q32.11,The molecular basis of the disorder is known,Unknown,,114180,ENSG00000198668,ligandId:2351,P0DP23,P0DP23,HGNC:1442 +GARD:0016074,Orphanet+OMIM,616249,OMIM:616249,1,CALM2,"[CAMII, PHKD, PHKD2, phosphorylase kinase subunit delta, phosphorylase kinase subunit delta 2, prepro-calmodulin 2]",calmodulin 2,gene with protein product,2p21,The molecular basis of the disorder is known,Unknown,,114182,ENSG00000143933,ligandId:2351,P0DP24,,HGNC:1445 +GARD:0016075,Orphanet,562528,ORPHA:562528,1,NALCN,"[CanIon, bA430M15.1]","sodium leak channel, non-selective",gene with protein product,13q32.3-q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:31410997],611549,ENSG00000102452,750,Q8IZF0,Q8IZF0,HGNC:19082 +GARD:0016076,Orphanet+OMIM,616270,OMIM:616270,1,AMBN,[enamel matrix protein],ameloblastin,gene with protein product,4q13.3,The molecular basis of the disorder is known,Unknown,,601259,ENSG00000178522,,Q9NP70,Q9NP70,HGNC:452 +GARD:0016077,Orphanet+OMIM,616294,OMIM:616294,1,SEC24D,[KIAA0755],"SEC24 homolog D, COPII coat complex component",gene with protein product,4q26,The molecular basis of the disorder is known,Unknown,,607186,ENSG00000150961,,O94855,O94855,HGNC:10706 +GARD:0016078,Orphanet+OMIM,616298,OMIM:616298,1,RIGI,"[Antiviral innate immune response receptor RIG-I, DKFZp434J1111, FLJ13599, RIG-1, RIG-I, RIG1, RNA helicase RIG-I, retinoic acid inducible gene I]",RNA sensor RIG-I,gene with protein product,9p21.1,The molecular basis of the disorder is known,Unknown,,609631,ENSG00000107201,objectId:2920,O95786,O95786,HGNC:19102 +GARD:0016079,Orphanet+OMIM,616300,OMIM:616300,1,CEP120,[FLJ36090],centrosomal protein 120,gene with protein product,5q23.2,The molecular basis of the disorder is known,Unknown,,613446,ENSG00000168944,,Q8N960,,HGNC:26690 +GARD:0016080,Orphanet+OMIM,616304,OMIM:616304,1,LRP4,"[CLSS, LRP-4, MEGF7, SOST2]",LDL receptor related protein 4,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,604270,ENSG00000134569,ligandId:5320,O75096,O75096,HGNC:6696 +GARD:0016081,Orphanet+OMIM,616307,OMIM:616307,1,WDR19,"[CFAP66, DYF-2, FAP66, FLJ23127, IFT144, KIAA1638, NPHP13, ORF26, Oseg6, Pwdmp, intraflagellar transport 144 homolog (Chlamydomonas)]",WD repeat domain 19,gene with protein product,4p14,The molecular basis of the disorder is known,Unknown,,608151,ENSG00000157796,,Q8NEZ3,Q8NEZ3,HGNC:18340 +GARD:0016082,Orphanet+OMIM,616311,OMIM:616311,1,DPP6,"[DPL1, DPPX]",dipeptidyl peptidase like 6,gene with protein product,7q36.2,The molecular basis of the disorder is known,Unknown,,126141,ENSG00000130226,,P42658,,HGNC:3010 +GARD:0016083,Orphanet+OMIM,616314,OMIM:616314,1,CHRNB1,"[acetylcholine receptor, beta 1 (muscle), nicotinic]",cholinergic receptor nicotinic beta 1 subunit,gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,100710,ENSG00000170175,objectId:471,P11230,,HGNC:1961 +GARD:0016084,Orphanet+OMIM,616321,OMIM:616321,1,CHRND,"[acetylcholine receptor, delta (muscle), nicotinic]",cholinergic receptor nicotinic delta subunit,gene with protein product,2q37.1,The molecular basis of the disorder is known,Unknown,,100720,ENSG00000135902,objectId:476,Q07001,Q07001,HGNC:1965 +GARD:0016085,Orphanet+OMIM,616322,OMIM:616322,1,CHRND,"[acetylcholine receptor, delta (muscle), nicotinic]",cholinergic receptor nicotinic delta subunit,gene with protein product,2q37.1,The molecular basis of the disorder is known,Unknown,,100720,ENSG00000135902,objectId:476,Q07001,Q07001,HGNC:1965 +GARD:0016086,Orphanet+OMIM,616323,OMIM:616323,1,CHRND,"[acetylcholine receptor, delta (muscle), nicotinic]",cholinergic receptor nicotinic delta subunit,gene with protein product,2q37.1,The molecular basis of the disorder is known,Unknown,,100720,ENSG00000135902,objectId:476,Q07001,Q07001,HGNC:1965 +GARD:0016087,Orphanet+OMIM,616324,OMIM:616324,1,CHRNE,"[ACHRE, acetylcholine receptor, epsilon (muscle), nicotinic]",cholinergic receptor nicotinic epsilon subunit,gene with protein product,17p13.2,The molecular basis of the disorder is known,Unknown,,100725,ENSG00000108556,objectId:477,Q04844,Q04844,HGNC:1966 +GARD:0016088,Orphanet+OMIM,616325,OMIM:616325,1,MUSK,,muscle associated receptor tyrosine kinase,gene with protein product,9q31.3,The molecular basis of the disorder is known,Unknown,,601296,ENSG00000030304,objectId:1847,O15146,O15146,HGNC:7525 +GARD:0016089,Orphanet+OMIM,616326,OMIM:616326,1,RAPSN,"[CMS1D, CMS1E, RNF205, rapsyn]",receptor associated protein of the synapse,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,601592,ENSG00000165917,,Q13702,,HGNC:9863 +GARD:0016090,Orphanet+OMIM,616329,OMIM:616329,1,KCNJ11,"[ATP-sensitive inward rectifier potassium channel 11, BIR, Kir6.2, beta-cell inward rectifier]",potassium inwardly rectifying channel subfamily J member 11,gene with protein product,11p15.1,The molecular basis of the disorder is known,Unknown,,600937,ENSG00000187486,objectId:442,Q14654,Q14654,HGNC:6257 +GARD:0016091,Orphanet+OMIM,616330,OMIM:616330,1,SNAP25,"[RIC-4, RIC4, SEC9, SNAP-25, bA416N4.2, dJ1068F16.2, resistance to inhibitors of cholinesterase 4 homolog]",synaptosome associated protein 25,gene with protein product,20p12.2,The molecular basis of the disorder is known,Unknown,,600322,ENSG00000132639,,P60880,P60880,HGNC:11132 +GARD:0016092,Orphanet+OMIM,616339,OMIM:616339,1,AARS1,"[AlaRS, CMT2N, alanine tRNA ligase 1, cytoplasmic]",alanyl-tRNA synthetase 1,gene with protein product,16q22.1,The molecular basis of the disorder is known,Unknown,,601065,ENSG00000090861,,P49588,P49588,HGNC:20 +GARD:0016093,Orphanet+OMIM,616341,OMIM:616341,1,SIK1,"[msk, myocardial SNF1-like kinase]",salt inducible kinase 1,gene with protein product,21q22.3,The molecular basis of the disorder is known,Unknown,,605705,ENSG00000142178,objectId:2197,P57059,P57059,HGNC:11142 +GARD:0016094,Orphanet+OMIM,616346,OMIM:616346,1,DNM1,,dynamin 1,gene with protein product,9q34.11,The molecular basis of the disorder is known,Unknown,,602377,ENSG00000106976,,Q05193,Q05193,HGNC:2972 +GARD:0016095,Orphanet+OMIM,616353,OMIM:616353,1,PARN,"[DAN, deadenylation nuclease]",poly(A)-specific ribonuclease,gene with protein product,16p13.12,The molecular basis of the disorder is known,Unknown,,604212,ENSG00000140694,,O95453,O95453,HGNC:8609 +GARD:0016096,Orphanet+OMIM,616366,OMIM:616366,1,KCNA2,"[HK4, Kv1.2]",potassium voltage-gated channel subfamily A member 2,gene with protein product,1p13.3,The molecular basis of the disorder is known,Unknown,,176262,ENSG00000177301,objectId:539,P16389,P16389,HGNC:6220 +GARD:0016097,Orphanet+OMIM,616371,OMIM:616371,1,PARN,"[DAN, deadenylation nuclease]",poly(A)-specific ribonuclease,gene with protein product,16p13.12,The molecular basis of the disorder is known,Unknown,,604212,ENSG00000140694,,O95453,O95453,HGNC:8609 +GARD:0016098,Orphanet+OMIM,616373,OMIM:616373,1,RTEL1,"[DKFZP434C013, KIAA1088, NHL, RTEL, bK3184A7.3]",regulator of telomere elongation helicase 1,gene with protein product,20q13.33,The molecular basis of the disorder is known,Unknown,,608833,ENSG00000258366,,Q9NZ71,Q9NZ71,HGNC:15888 +GARD:0016099,Orphanet+OMIM,616389,OMIM:616389,1,GNAT1,[CSNBAD3],G protein subunit alpha transducin 1,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,139330,ENSG00000114349,,P11488,P11488,HGNC:4393 +GARD:0016100,Orphanet+OMIM,616390,OMIM:616390,1,ERCC3,"[BTF2, RAD25, Ssl2, XPB, xeroderma pigmentosum group B complementing]","ERCC excision repair 3, TFIIH core complex helicase subunit",gene with protein product,2q14.3,The molecular basis of the disorder is known,Unknown,,133510,ENSG00000163161,,P19447,P19447,HGNC:3435 +GARD:0016101,Orphanet+OMIM,616394,OMIM:616394,1,IFT172,"[BBS20, NPHP17, SLB, osm-1, wim, wimple homolog]",intraflagellar transport 172,gene with protein product,2p23.3,The molecular basis of the disorder is known,Unknown,,607386,ENSG00000138002,,Q9UG01,Q9UG01,HGNC:30391 +GARD:0016102,Orphanet+OMIM,616395,OMIM:616395,1,GTF2H5,"[DNA repair syndrome trichothiodystrophy group A, FLJ30544, TFB5, TFIIH, TTD-A, TTDA, bA120J8.2]",general transcription factor IIH subunit 5,gene with protein product,6q25.3,The molecular basis of the disorder is known,Unknown,,608780,ENSG00000272047,,Q6ZYL4,Q6ZYL4,HGNC:21157 +GARD:0016103,Orphanet+OMIM,616398,OMIM:616398,1,KCTD17,[FLJ12242],potassium channel tetramerization domain containing 17,gene with protein product,22q12.3,The molecular basis of the disorder is known,Unknown,,616386,ENSG00000100379,,Q8N5Z5,,HGNC:25705 +GARD:0016104,Orphanet+OMIM,616399,OMIM:616399,1,KCND3,"[KSHIVB, Kv4.3]",potassium voltage-gated channel subfamily D member 3,gene with protein product,1p13.2,The molecular basis of the disorder is known,Unknown,,605411,ENSG00000171385,objectId:554,Q9UK17,Q9UK17,HGNC:6239 +GARD:0016105,Orphanet+OMIM,616402,OMIM:616402,1,SASS6,"[DKFZp761A078, FLJ22097, SAS-6, SAS6]",SAS-6 centriolar assembly protein,gene with protein product,1p21.2,The molecular basis of the disorder is known,Unknown,,609321,ENSG00000156876,,Q6UVJ0,,HGNC:25403 +GARD:0016106,Orphanet+OMIM,616409,OMIM:616409,1,EEF1A2,"[EEF1AL, HS1]",eukaryotic translation elongation factor 1 alpha 2,gene with protein product,20q13.33,The molecular basis of the disorder is known,Unknown,,602959,ENSG00000101210,,Q05639,Q05639,HGNC:3192 +GARD:0016107,Orphanet+OMIM,616413,OMIM:616413,1,XPR1,"[SLC53A1, SYG1, X3, member 1, solute carrier family 53 (phosphate exporter)]",xenotropic and polytropic retrovirus receptor 1,gene with protein product,1q25.3,The molecular basis of the disorder is known,Unknown,,605237,ENSG00000143324,objectId:3021,Q9UBH6,,HGNC:12827 +GARD:0016108,Orphanet+OMIM,616421,OMIM:616421,1,SLC6A1,"[GABA transporter 1, GABATHG, GABATR, GAT-1, GAT1, Sodium- and chloride-dependent GABA transporter 1, hGAT-1]",solute carrier family 6 member 1,gene with protein product,3p25.3,The molecular basis of the disorder is known,Unknown,,137165,ENSG00000157103,objectId:929,P30531,P30531,HGNC:11042 +GARD:0016109,Orphanet+OMIM,616425,OMIM:616425,1,SRXY10,,"46,XY sex reversal 10",,17q24,The disorder is a chromosome deletion or duplication syndrome,Unknown,,616425,,,,,OMIM:616425 +GARD:0016110,Orphanet+OMIM,616428,OMIM:616428,1,RBP4,,retinol binding protein 4,gene with protein product,10q23.33,The molecular basis of the disorder is known,Unknown,,180250,ENSG00000138207,objectId:2549,P02753,P02753,HGNC:9922 +GARD:0016111,Orphanet+OMIM,616435,OMIM:616435,1,UBE2T,"[FANCT, HSPC150]",ubiquitin conjugating enzyme E2 T,gene with protein product,1q32.1,The molecular basis of the disorder is known,Unknown,,610538,ENSG00000077152,,Q9NPD8,Q9NPD8,HGNC:25009 +GARD:0016112,Orphanet+OMIM,616436,OMIM:616436,1,RELN,"[PRO1598, RL]",reelin,gene with protein product,7q22.1,The molecular basis of the disorder is known,Unknown,,600514,ENSG00000189056,,P78509,P78509,HGNC:9957 +GARD:0016113,Orphanet+OMIM,616437,OMIM:616437,1,SQSTM1,"[A170, autophagy receptor p62, p60, p62, p62B]",sequestosome 1,gene with protein product,5q35.3,The molecular basis of the disorder is known,Unknown,,601530,ENSG00000161011,objectId:3213,Q13501,Q13501,HGNC:11280 +GARD:0016114,Orphanet+OMIM,616445,OMIM:616445,1,IL17RC,[IL17-RL],interleukin 17 receptor C,gene with protein product,3p25.3,The molecular basis of the disorder is known,Unknown,,610925,ENSG00000163702,objectId:1740,Q8NAC3,Q8NAC3,HGNC:18358 +GARD:0016115,Orphanet+OMIM,616455,OMIM:616455,1,ATP6V1B2,"[HO57, V-ATPase subunit B2, VATB, Vma2]",ATPase H+ transporting V1 subunit B2,gene with protein product,8p21.3,The molecular basis of the disorder is known,Unknown,,606939,ENSG00000147416,objectId:812,P21281,P21281,HGNC:854 +GARD:0016116,Orphanet+OMIM,616461,OMIM:616461,1,GAL,"[GAL-GMAP, GLNN, GMAP, galanin-message-associated peptide]",galanin and GMAP prepropeptide,gene with protein product,11q13.2,The molecular basis of the disorder is known,Unknown,,137035,ENSG00000069482,ligandId:3592,P22466,P22466,HGNC:4114 +GARD:0016117,Orphanet+OMIM,616462,OMIM:616462,1,POLR1A,"[DKFZP586M0122, FLJ21915, RPA1, RPA190, RPO1-4]",RNA polymerase I subunit A,gene with protein product,2p11.2,The molecular basis of the disorder is known,Unknown,,616404,ENSG00000068654,,O95602,O95602,HGNC:17264 +GARD:0016118,Orphanet+OMIM,616468,OMIM:616468,1,ZNF408,[FLJ12827],zinc finger protein 408,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,616454,ENSG00000175213,,Q9H9D4,,HGNC:20041 +GARD:0016119,Orphanet+OMIM,616469,OMIM:616469,1,ZNF408,[FLJ12827],zinc finger protein 408,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,616454,ENSG00000175213,,Q9H9D4,,HGNC:20041 +GARD:0016120,Orphanet+OMIM,616470,OMIM:616470,1,COL12A1,[collagen type XII proteoglycan],collagen type XII alpha 1 chain,gene with protein product,6q13-q14.1,The molecular basis of the disorder is known,Unknown,,120320,ENSG00000111799,,Q99715,Q99715,HGNC:2188 +GARD:0016121,Orphanet+OMIM,616471,OMIM:616471,1,COL12A1,[collagen type XII proteoglycan],collagen type XII alpha 1 chain,gene with protein product,6q13-q14.1,The molecular basis of the disorder is known,Unknown,,120320,ENSG00000111799,,Q99715,Q99715,HGNC:2188 +GARD:0016122,Orphanet+OMIM,616481,OMIM:616481,1,RSPH3,"[RSP3, dJ111C20.1]",radial spoke head 3,gene with protein product,6q25.3,The molecular basis of the disorder is known,Unknown,,615876,ENSG00000130363,,Q86UC2,,HGNC:21054 +GARD:0016123,Orphanet+OMIM,616486,OMIM:616486,1,MFSD2A,"[FLJ14490, SLC59A1, sodium-dependent LPC symporter 1, sodium-dependent lysophosphatidylcholine symporter 1]","MFSD2 lysolipid transporter A, lysophospholipid",gene with protein product,1p34.2,The molecular basis of the disorder is known,Unknown,,614397,ENSG00000168389,objectId:3041,Q8NA29,Q8NA29,HGNC:25897 +GARD:0016124,Orphanet+OMIM,616490,OMIM:616490,1,KIAA0586,"[JBTS23, Talpid3]",KIAA0586,gene with protein product,14q23.1,The molecular basis of the disorder is known,Unknown,,610178,ENSG00000100578,,Q9BVV6,,HGNC:19960 +GARD:0016125,Orphanet+OMIM,616502,OMIM:616502,1,DRAM2,"[MGC54289, PRO180, RP5-1180E21.1, WWFQ154]",DNA damage regulated autophagy modulator 2,gene with protein product,1p13.3,The molecular basis of the disorder is known,Unknown,,613360,ENSG00000156171,,Q6UX65,,HGNC:28769 +GARD:0016126,Orphanet+OMIM,616507,OMIM:616507,1,SPARC,"[BM-40, ONT, cysteine-rich protein, secreted protein acidic and rich in cysteine]",secreted protein acidic and cysteine rich,gene with protein product,5q33.1,The molecular basis of the disorder is known,Unknown,,182120,ENSG00000113140,,P09486,P09486,HGNC:11219 +GARD:0016127,Orphanet+OMIM,616509,OMIM:616509,1,LSS,"[OSC, Oxidosqualene-lanosterol cyclase]",lanosterol synthase,gene with protein product,21q22.3,The molecular basis of the disorder is known,Unknown,,600909,ENSG00000160285,objectId:2434,P48449,P48449,HGNC:6708 +GARD:0016128,Orphanet+OMIM,616511,OMIM:616511,1,APPL1,"[APPL, DCC-interacting protein 13-alpha]","adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",gene with protein product,3p14.3,The molecular basis of the disorder is known,Unknown,,604299,ENSG00000157500,,Q9UKG1,Q9UKG1,HGNC:24035 +GARD:0016129,Orphanet+OMIM,616517,OMIM:616517,1,ATF6,"[ATF6A, activating transcription factor 6 alpha]",activating transcription factor 6,gene with protein product,1q23.3,The molecular basis of the disorder is known,Unknown,,605537,ENSG00000118217,,P18850,P18850,HGNC:791 +GARD:0016130,Orphanet+OMIM,616531,OMIM:616531,1,PI4KA,"[PI4K-ALPHA, phosphatidylinositol 4-kinase III alpha, phosphatidylinositol 4-kinase IIIα, pi4K230]",phosphatidylinositol 4-kinase alpha,gene with protein product,22q11.21,The molecular basis of the disorder is known,Unknown,,600286,ENSG00000241973,objectId:2148,P42356,P42356,HGNC:8983 +GARD:0016131,Orphanet+OMIM,616532,OMIM:616532,1,IRF3,,interferon regulatory factor 3,gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,603734,ENSG00000126456,,Q14653,Q14653,HGNC:6118 +GARD:0016132,Orphanet+OMIM,616534,OMIM:616534,1,FOXE1,"[HFKH4, TTF-2, thyroid transcription factor 2]",forkhead box E1,gene with protein product,9q22.33,The molecular basis of the disorder is known,Unknown,,602617,ENSG00000178919,,O00358,,HGNC:3806 +GARD:0016133,Orphanet+OMIM,616535,OMIM:616535,1,HABP2,"[FSAP, HABP, HGFAL, PHBP, factor VII activating protein, plasma hyaluronan binding protein]",hyaluronan binding protein 2,gene with protein product,10q25.3,The molecular basis of the disorder is known,Unknown,,603924,ENSG00000148702,,Q14520,,HGNC:4798 +GARD:0016134,Orphanet+OMIM,616538,OMIM:616538,1,DAG1,"[156DAG, A3a, AGRNR, DAG, alpha-dystroglycan, beta-dystroglycan, dystrophin-associated glycoprotein-1]",dystroglycan 1,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,128239,ENSG00000173402,,Q14118,Q14118,HGNC:2666 +GARD:0016135,Orphanet+OMIM,616544,OMIM:616544,1,HGSNAT,"[FLJ32731, HGNAT]",heparan-alpha-glucosaminide N-acetyltransferase,gene with protein product,8p11.21-p11.1,The molecular basis of the disorder is known,Unknown,,610453,ENSG00000165102,,Q68CP4,Q68CP4,HGNC:26527 +GARD:0016136,Orphanet+OMIM,616553,OMIM:616553,1,ACD,"[POT1 and TIN2 organizing protein, Pip1, Ptop, TIN2 interacting protein 1, Tint1, Tpp1]",ACD shelterin complex subunit and telomerase recruitment factor,gene with protein product,16q22.1,The molecular basis of the disorder is known,Unknown,,609377,ENSG00000102977,,Q96AP0,Q96AP0,HGNC:25070 +GARD:0016137,Orphanet+OMIM,616559,OMIM:616559,1,SOS2,,SOS Ras/Rho guanine nucleotide exchange factor 2,gene with protein product,14q21.3,The molecular basis of the disorder is known,Unknown,,601247,ENSG00000100485,,Q07890,Q07890,HGNC:11188 +GARD:0016138,Orphanet+OMIM,616562,OMIM:616562,1,BBS2,,Bardet-Biedl syndrome 2,gene with protein product,16q13,The molecular basis of the disorder is known,Unknown,,606151,ENSG00000125124,,Q9BXC9,Q9BXC9,HGNC:967 +GARD:0016139,Orphanet+OMIM,616564,OMIM:616564,1,LZTR1,"[BTBD29, LZTR-1]",leucine zipper like transcription regulator 1,gene with protein product,22q11.21,The molecular basis of the disorder is known,Unknown,,600574,ENSG00000099949,,Q8N653,,HGNC:6742 +GARD:0016140,Orphanet+OMIM,616570,OMIM:616570,1,ERCC5,[Cockayne syndrome],"ERCC excision repair 5, endonuclease",gene with protein product,13q33.1,The molecular basis of the disorder is known,Unknown,,133530,ENSG00000134899,,P28715,P28715,HGNC:3437 +GARD:0016141,Orphanet+OMIM,616576,OMIM:616576,1,NFKB1,"[KBF1, NF-kB1, NF-kappaB, NFKB-p50, NFkappaB, Nuclear factor NF-kappa-B p105 subunit, p105, p50]",nuclear factor kappa B subunit 1,gene with protein product,4q24,The molecular basis of the disorder is known,Unknown,,164011,ENSG00000109320,,P19838,P19838,HGNC:7794 +GARD:0016142,Orphanet+OMIM,616589,OMIM:616589,1,DLL4,,delta like canonical Notch ligand 4,gene with protein product,15q15.1,The molecular basis of the disorder is known,Unknown,,605185,ENSG00000128917,ligandId:8452,Q9NR61,Q9NR61,HGNC:2910 +GARD:0016143,Orphanet+OMIM,616603,OMIM:616603,1,ALDH18A1,"[P5CS, delta-1-pyrroline-5-carboxylate synthase]",aldehyde dehydrogenase 18 family member A1,gene with protein product,10q24.1,The molecular basis of the disorder is known,Unknown,,138250,ENSG00000059573,,P54886,P54886,HGNC:9722 +GARD:0016144,Orphanet+OMIM,616617,OMIM:616617,1,PEX6,"[PAF-2, PXAAA1]",peroxisomal biogenesis factor 6,gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,601498,ENSG00000124587,,Q13608,Q13608,HGNC:8859 +GARD:0016145,Orphanet+OMIM,616629,OMIM:616629,1,TRAF3IP1,"[CFAP116, DKFZP434F124, FAP116, IFT54, MIP-T3, MIPT3, microtubule interacting protein that associates with TRAF3]",TRAF3 interacting protein 1,gene with protein product,2q37.3,The molecular basis of the disorder is known,Unknown,,607380,ENSG00000204104,,Q8TDR0,Q8TDR0,HGNC:17861 +GARD:0016146,Orphanet+OMIM,616631,OMIM:616631,1,FDPS,"[dimethylallyltranstransferase, farnesyl pyrophosphate synthetase, geranyltranstransferase]",farnesyl diphosphate synthase,gene with protein product,1q22,The molecular basis of the disorder is known,Unknown,,134629,ENSG00000160752,objectId:644,P14324,P14324,HGNC:3631 +GARD:0016147,Orphanet+OMIM,616645,OMIM:616645,1,SLC12A5,"[K-Cl cotransporter 2, KCC2, KIAA1176, hKCC2]",solute carrier family 12 member 5,gene with protein product,20q13.12,The molecular basis of the disorder is known,Unknown,,606726,ENSG00000124140,objectId:972,Q9H2X9,Q9H2X9,HGNC:13818 +GARD:0016148,Orphanet+OMIM,616648,OMIM:616648,1,OPA8,,Optic atrophy 8,unknown,16q21-q22,The disease phenotype itself was mapped,Unknown,,616648,,,,,GeneID:106783499 +GARD:0016149,Orphanet+OMIM,616649,OMIM:616649,1,SPTB,"[clinical type I, spherocytosis]","spectrin beta, erythrocytic",gene with protein product,14q23.3,The molecular basis of the disorder is known,Unknown,,182870,ENSG00000070182,,P11277,P11277,HGNC:11274 +GARD:0016150,Orphanet+OMIM,616654,OMIM:616654,1,TCTN2,"[FLJ12975, JBTS24, MKS8, Meckel syndrome, TECT2, type 8]",tectonic family member 2,gene with protein product,12q24.31,The molecular basis of the disorder is known,Unknown,,613846,ENSG00000168778,,Q96GX1,Q96GX1,HGNC:25774 +GARD:0016151,Orphanet+OMIM,616681,OMIM:616681,1,ANKLE2,"[LEM domain containing 7, LEM-domain protein 4, LEMD7, Lem4]",ankyrin repeat and LEM domain containing 2,gene with protein product,12q24.33,The molecular basis of the disorder is known,Unknown,,616062,ENSG00000176915,,Q86XL3,Q86XL3,HGNC:29101 +GARD:0016152,Orphanet+OMIM,616689,OMIM:616689,1,KCNN4,"[IK, KCa3.1, hIKCa1, hKCa4, hSK4, intermediate conductance calcium-activated potassium channel, small conductance calcium-activated potassium channel 4]",potassium calcium-activated channel subfamily N member 4,gene with protein product,19q13.31,The molecular basis of the disorder is known,Unknown,,602754,ENSG00000104783,objectId:384,O15554,O15554,HGNC:6293 +GARD:0016153,Orphanet+OMIM,616720,OMIM:616720,1,COL13A1,,collagen type XIII alpha 1 chain,gene with protein product,10q22.1,The molecular basis of the disorder is known,Unknown,,120350,ENSG00000197467,,Q5TAT6,Q5TAT6,HGNC:2190 +GARD:0016154,Orphanet+OMIM,616726,OMIM:616726,1,GAS8,[DRC4],growth arrest specific 8,gene with protein product,16q24.3,The molecular basis of the disorder is known,Unknown,,605178,ENSG00000141013,,O95995,O95995,HGNC:4166 +GARD:0016155,Orphanet+OMIM,616730,OMIM:616730,1,NUP107,"[NUP84, nuclear pore complex protein Nup107]",nucleoporin 107,gene with protein product,12q15,The molecular basis of the disorder is known,Unknown,,607617,ENSG00000111581,,P57740,P57740,HGNC:29914 +GARD:0016156,Orphanet+OMIM,616734,OMIM:616734,1,MAPRE2,"[APC-binding protein EB1, EB1, EB2, RP1]",microtubule associated protein RP/EB family member 2,gene with protein product,18q12.1-q12.2,The molecular basis of the disorder is known,Unknown,,605789,ENSG00000166974,,Q15555,,HGNC:6891 +GARD:0016157,Orphanet+OMIM,616760,OMIM:616760,1,KRT25,,keratin 25,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,616646,ENSG00000204897,,Q7Z3Z0,Q7Z3Z0,HGNC:30839 +GARD:0016158,Orphanet+OMIM,616777,OMIM:616777,1,TRAIP,"[RNF206, TRIP, ring finger protein 206]",TRAF interacting protein,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,605958,ENSG00000183763,,Q9BWF2,Q9BWF2,HGNC:30764 +GARD:0016159,Orphanet+OMIM,616781,OMIM:616781,1,CEP104,"[CFAP256, GlyBP, JBTS25, ROC22, RP1-286D6.4, glutamate, glycine, thienylcyclohexylpiperidine binding protein]",centrosomal protein 104,gene with protein product,1p36.32,The molecular basis of the disorder is known,Unknown,,616690,ENSG00000116198,,O60308,,HGNC:24866 +GARD:0016160,Orphanet+OMIM,616784,OMIM:616784,1,KATNIP,[JBTS26],katanin interacting protein,gene with protein product,16p12.1,The molecular basis of the disorder is known,Unknown,,616650,ENSG00000047578,,O60303,,HGNC:29068 +GARD:0016161,Orphanet+OMIM,616792,OMIM:616792,1,NBLST7,,"Neuroblastoma, susceptibility to, 7",unknown,11p15,The disease phenotype itself was mapped,Unknown,,616792,,,,,GeneID:107181289 +GARD:0016162,Orphanet+OMIM,616806,OMIM:616806,1,REST,"[NRSF, XBR, neuron-restrictive silencer factor]",RE1 silencing transcription factor,gene with protein product,4q12,The molecular basis of the disorder is known,Unknown,,600571,ENSG00000084093,,Q13127,Q13127,HGNC:9966 +GARD:0016163,Orphanet+OMIM,616835,OMIM:616835,1,GMNN,[Gem],geminin DNA replication inhibitor,gene with protein product,6p22.3,The molecular basis of the disorder is known,Unknown,,602842,ENSG00000112312,,O75496,O75496,HGNC:17493 +GARD:0016164,Orphanet+OMIM,616849,OMIM:616849,1,BMPR1B,"[ALK6, CDw293]",bone morphogenetic protein receptor type 1B,gene with protein product,4q22.3,The molecular basis of the disorder is known,Unknown,,603248,ENSG00000138696,objectId:1789,O00238,O00238,HGNC:1077 +GARD:0016165,Orphanet+OMIM,616882,OMIM:616882,1,PER3,,period circadian regulator 3,gene with protein product,1p36.23,The molecular basis of the disorder is known,Unknown,,603427,ENSG00000049246,,P56645,,HGNC:8847 +GARD:0016166,Orphanet+OMIM,616892,OMIM:616892,1,NUP93,"[KIAA0095, nuclear pore complex protein Nup93]",nucleoporin 93,gene with protein product,16q13,The molecular basis of the disorder is known,Unknown,,614351,ENSG00000102900,,Q8N1F7,Q8N1F7,HGNC:28958 +GARD:0016167,Orphanet+OMIM,616893,OMIM:616893,1,NUP205,"[KIAA0225, nuclear pore complex protein Nup205]",nucleoporin 205,gene with protein product,7q33,The molecular basis of the disorder is known,Unknown,,614352,ENSG00000155561,,Q92621,Q92621,HGNC:18658 +GARD:0016168,Orphanet+OMIM,616910,OMIM:616910,1,CDCA7,"[FLJ14736, JPO1]",cell division cycle associated 7,gene with protein product,2q31.1,The molecular basis of the disorder is known,Unknown,,609937,ENSG00000144354,,Q9BWT1,,HGNC:14628 +GARD:0016169,Orphanet+OMIM,616911,OMIM:616911,1,HELLS,"[LSH, Nbla10143, PASG, SMARCA6, SWI/SNF2-related, actin-dependent regulator of chromatin, matrix-associated, member 6, proliferation-associated SNF2-like protein, subfamily A]","helicase, lymphoid specific",gene with protein product,10q23.33,The molecular basis of the disorder is known,Unknown,,603946,ENSG00000119969,,Q9NRZ9,,HGNC:4861 +GARD:0016170,Orphanet+OMIM,616938,OMIM:616938,1,SMARCE1,[BAF57],"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1",gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,603111,ENSG00000073584,,Q969G3,Q969G3,HGNC:11109 +GARD:0016171,Orphanet+OMIM,616941,OMIM:616941,1,TCF3,"[E2A, E2A immunoglobulin enhancer-binding factor E12/E47, E47, ITF1, MGC129647, MGC129648, VDIR, VDR interacting repressor, bHLHb21, immunoglobulin transcription factor 1, kappa-E2-binding factor, p75, transcription factor E2-alpha]",transcription factor 3,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,147141,ENSG00000071564,,P15923,P15923,HGNC:11633 +GARD:0016172,Orphanet+OMIM,616943,OMIM:616943,1,GTF2E2,"[FE, TF2E2, TFIIE beta subunit, TFIIE-B, Transcription initiation factor IIE subunit beta]",general transcription factor IIE subunit 2,gene with protein product,8p12,The molecular basis of the disorder is known,Unknown,,189964,ENSG00000197265,,P29084,P29084,HGNC:4651 +GARD:0016173,Orphanet+OMIM,616950,OMIM:616950,1,SYCE1,"[CT76, bA108K14.6, cancer/testis antigen 76]",synaptonemal complex central element protein 1,gene with protein product,10q26.3,The molecular basis of the disorder is known,Unknown,,611486,ENSG00000171772,,Q8N0S2,Q8N0S2,HGNC:28852 +GARD:0016174,Orphanet+OMIM,617004,OMIM:617004,1,SEC63,"[DNAJC23, ERdj2, PRO2507, SEC63L]","SEC63 homolog, protein translocation regulator",gene with protein product,6q21,The molecular basis of the disorder is known,Unknown,,608648,ENSG00000025796,,Q9UGP8,,HGNC:21082 +GARD:0016175,Orphanet+OMIM,617020,OMIM:617020,1,ARV1,,"ARV1 homolog, fatty acid homeostasis modulator",gene with protein product,1q42.2,The molecular basis of the disorder is known,Unknown,,611647,ENSG00000173409,,Q9H2C2,Q9H2C2,HGNC:29561 +GARD:0016176,Orphanet+OMIM,617023,OMIM:617023,1,AGBL5,"[CCP5, FLJ21839, cytosolic carboxypeptidase 5]",AGBL carboxypeptidase 5,gene with protein product,2p23.3,The molecular basis of the disorder is known,Unknown,,615900,ENSG00000084693,,Q8NDL9,Q8NDL9,HGNC:26147 +GARD:0016177,Orphanet+OMIM,617024,OMIM:617024,1,GNB3,"[Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3, transducin beta chain 3]",G protein subunit beta 3,gene with protein product,12p13.31,The molecular basis of the disorder is known,Unknown,,139130,ENSG00000111664,,P16520,P16520,HGNC:4400 +GARD:0016178,Orphanet+OMIM,617026,OMIM:617026,1,TSEN15,,tRNA splicing endonuclease subunit 15,gene with protein product,1q25.3,The molecular basis of the disorder is known,Unknown,,608756,ENSG00000198860,,Q8WW01,Q8WW01,HGNC:16791 +GARD:0016180,Orphanet+OMIM,617050,OMIM:617050,1,AP3D1,[ADTD],adaptor related protein complex 3 subunit delta 1,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,607246,ENSG00000065000,,O14617,,HGNC:568 +GARD:0016181,Orphanet+OMIM,617063,OMIM:617063,1,CDC45,[human CDC45],cell division cycle 45,gene with protein product,22q11.21,The molecular basis of the disorder is known,Unknown,,603465,ENSG00000093009,,O75419,O75419,HGNC:1739 +GARD:0016182,Orphanet+OMIM,617065,OMIM:617065,1,GUF1,[FLJ13220],GTP binding elongation factor GUF1,gene with protein product,4p12,The molecular basis of the disorder is known,Unknown,,617064,ENSG00000151806,,Q8N442,,HGNC:25799 +GARD:0016183,Orphanet+OMIM,617069,OMIM:617069,1,TK2,"[SCA31, mitochondrial thymidine kinase]",thymidine kinase 2,gene with protein product,16q21,The molecular basis of the disorder is known,Unknown,,188250,ENSG00000166548,,O00142,O00142,HGNC:11831 +GARD:0016184,Orphanet+OMIM,617075,OMIM:617075,1,MST1R,"[CD136, CDw136, c-met-related tyrosine kinase]",macrophage stimulating 1 receptor,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,600168,ENSG00000164078,objectId:1816,Q04912,Q04912,HGNC:7381 +GARD:0016185,Orphanet+OMIM,617088,OMIM:617088,1,DYNC2LI1,"[CGI-60, D2LIC, DKFZP564A033, LIC3]",dynein cytoplasmic 2 light intermediate chain 1,gene with protein product,2p21,The molecular basis of the disorder is known,Unknown,,617083,ENSG00000138036,,Q8TCX1,Q8TCX1,HGNC:24595 +GARD:0016186,Orphanet+OMIM,617090,OMIM:617090,1,CIT,"[CITK, CRIK, KIAA0949, STK21, serine/threonine kinase 21]",citron rho-interacting serine/threonine kinase,gene with protein product,12q24.23,The molecular basis of the disorder is known,Unknown,,605629,ENSG00000122966,objectId:1509,O14578,O14578,HGNC:1985 +GARD:0016187,Orphanet+OMIM,617091,OMIM:617091,1,DNAJB13,"[RSPH16A, TSARG6, radial spoke 16 homolog A (Chlamydomonas)]",DnaJ heat shock protein family (Hsp40) member B13,gene with protein product,11q13.4,The molecular basis of the disorder is known,Unknown,,610263,ENSG00000187726,,P59910,,HGNC:30718 +GARD:0016188,Orphanet+OMIM,617092,OMIM:617092,1,ODAD4,[DKFZP434H0115],outer dynein arm docking complex subunit 4,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,617095,ENSG00000204815,,Q96NG3,,HGNC:25280 +GARD:0016189,Orphanet+OMIM,617102,OMIM:617102,1,IFT52,"[CGI-53, NGD2, NGD5, dJ1028D15.1]",intraflagellar transport 52,gene with protein product,20q13.12,The molecular basis of the disorder is known,Unknown,,617094,ENSG00000101052,,Q9Y366,Q9Y366,HGNC:15901 +GARD:0016190,Orphanet+OMIM,617105,OMIM:617105,1,SLC1A2,"[EAAT2, Excitatory amino acid transporter 2, GLT-1, GLT1, HBGT, glutamate transporter-1, human brain glutamate transporter]",solute carrier family 1 member 2,gene with protein product,11p13,The molecular basis of the disorder is known,Unknown,,600300,ENSG00000110436,objectId:869,P43004,P43004,HGNC:10940 +GARD:0016191,Orphanet+OMIM,617106,OMIM:617106,1,CACNA1A,"[APCA, Cav2.1, EA2, FHM, HPCA]",calcium voltage-gated channel subunit alpha1 A,gene with protein product,19p13.13,The molecular basis of the disorder is known,Unknown,,601011,ENSG00000141837,objectId:532,O00555,O00555,HGNC:1388 +GARD:0016192,Orphanet+OMIM,617113,OMIM:617113,1,GABRB3,"[GABA(A) receptor, beta 3]",gamma-aminobutyric acid type A receptor subunit beta3,gene with protein product,15q12,The molecular basis of the disorder is known,Unknown,,137192,ENSG00000166206,objectId:412,P28472,P28472,HGNC:4083 +GARD:0016193,Orphanet+OMIM,617119,OMIM:617119,1,IFT74,"[CMG-1, CMG1, FLJ22621, capillary morphogenesis protein 1]",intraflagellar transport 74,gene with protein product,9p21.2,The molecular basis of the disorder is known,Unknown,,608040,ENSG00000096872,,Q96LB3,Q96LB3,HGNC:21424 +GARD:0016194,Orphanet+OMIM,617120,OMIM:617120,1,B9D1,"[B9, EPPB9, MKS9, MKSR-1, endothelial precursor protein B9]",B9 domain containing 1,gene with protein product,17p11.2,The molecular basis of the disorder is known,Unknown,,614144,ENSG00000108641,,Q9UPM9,Q9UPM9,HGNC:24123 +GARD:0016195,Orphanet+OMIM,617121,OMIM:617121,1,MKS1,"[BBS13, FLJ20345, POC12, POC12 centriolar protein homolog (Chlamydomonas)]",MKS transition zone complex subunit 1,gene with protein product,17q22,The molecular basis of the disorder is known,Unknown,,609883,ENSG00000011143,,Q9NXB0,Q9NXB0,HGNC:7121 +GARD:0016196,Orphanet+OMIM,617123,OMIM:617123,1,POMGNT1,"[FLJ20277, LGMD2O, MGAT1.2, protein O-mannose beta-1;2-N-acetylglucosaminyltransferase]","protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",gene with protein product,1p34.1,The molecular basis of the disorder is known,Unknown,,606822,ENSG00000085998,,Q8WZA1,Q8WZA1,HGNC:19139 +GARD:0016197,Orphanet+OMIM,617127,OMIM:617127,1,KIAA0753,"[MNR, OFD1 and FOR20 interacting protein, OFIP, moonraker]",KIAA0753,gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,617112,ENSG00000198920,,Q2KHM9,,HGNC:29110 +GARD:0016198,Orphanet+OMIM,617132,OMIM:617132,1,UBA5,"[FLJ23251, UBA5, ubiquitin-activating enzyme E1 homolog (yeast)]",ubiquitin like modifier activating enzyme 5,gene with protein product,3q22.1,The molecular basis of the disorder is known,Unknown,,610552,ENSG00000081307,,Q9GZZ9,Q9GZZ9,HGNC:23230 +GARD:0016199,Orphanet+OMIM,617137,OMIM:617137,1,MAP3K7,"[MEKK7, TGF-beta activated kinase 1]",mitogen-activated protein kinase kinase kinase 7,gene with protein product,6q15,The molecular basis of the disorder is known,Unknown,,602614,ENSG00000135341,objectId:2082,O43318,O43318,HGNC:6859 +GARD:0016200,Orphanet+OMIM,617141,OMIM:617141,1,ELP4,[PAXNEB],elongator acetyltransferase complex subunit 4,gene with protein product,11p13,The molecular basis of the disorder is known,Unknown,,606985,ENSG00000109911,,Q96EB1,Q96EB1,HGNC:1171 +GARD:0016201,Orphanet+OMIM,617142,OMIM:617142,1,TRIM44,"[DIPB, MC7]",tripartite motif containing 44,gene with protein product,11p13,The molecular basis of the disorder is known,Unknown,,612298,ENSG00000166326,,Q96DX7,,HGNC:19016 +GARD:0016202,Orphanet+OMIM,617143,OMIM:617143,1,SLC5A7,"[CHT1, ChT, High affinity choline transporter 1, hCHT]",solute carrier family 5 member 7,gene with protein product,2q12.3,The molecular basis of the disorder is known,Unknown,,608761,ENSG00000115665,objectId:914,Q9GZV3,Q9GZV3,HGNC:14025 +GARD:0016203,Orphanet+OMIM,617153,OMIM:617153,1,GABRB1,"[GABA(A) receptor, beta 1]",gamma-aminobutyric acid type A receptor subunit beta1,gene with protein product,4p12,The molecular basis of the disorder is known,Unknown,,137190,ENSG00000163288,objectId:410,P18505,P18505,HGNC:4081 +GARD:0016204,Orphanet+OMIM,617158,OMIM:617158,1,SQSTM1,"[A170, autophagy receptor p62, p60, p62, p62B]",sequestosome 1,gene with protein product,5q35.3,The molecular basis of the disorder is known,Unknown,,601530,ENSG00000161011,objectId:3213,Q13501,Q13501,HGNC:11280 +GARD:0016205,Orphanet+OMIM,617162,OMIM:617162,1,GRIN2D,"[EB11, GluN2D, N-methyl-d-aspartate receptor subunit 2D, NR2D]",glutamate ionotropic receptor NMDA type subunit 2D,gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,602717,ENSG00000105464,objectId:459,O15399,O15399,HGNC:4588 +GARD:0016206,Orphanet+OMIM,617166,OMIM:617166,1,FGF12,"[FHF1, fibroblast growth factor 12B, fibroblast growth factor FGF-12b, fibroblast growth factor homologous factor 1, myocyte-activating factor]",fibroblast growth factor 12,gene with protein product,3q28-q29,The molecular basis of the disorder is known,Unknown,,601513,ENSG00000114279,,P61328,P61328,HGNC:3668 +GARD:0016207,Orphanet+OMIM,617168,OMIM:617168,1,LOX,[protein-lysine 6-oxidase],lysyl oxidase,gene with protein product,5q23.1,The molecular basis of the disorder is known,Unknown,,153455,ENSG00000113083,objectId:3097,P28300,P28300,HGNC:6664 +GARD:0016208,Orphanet+OMIM,617169,OMIM:617169,1,APC2,"[APCL, adenomatous polyposis coli like]",APC regulator of WNT signaling pathway 2,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,612034,ENSG00000115266,,O95996,,HGNC:24036 +GARD:0016209,Orphanet+OMIM,617174,OMIM:617174,1,C1S,,complement C1s,gene with protein product,12p13.31,The molecular basis of the disorder is known,Unknown,,120580,ENSG00000182326,objectId:2335,P09871,P09871,HGNC:1247 +GARD:0016210,Orphanet+OMIM,617201,OMIM:617201,1,NEDD4L,"[KIAA0439, NEDD4-2, RSP5]",NEDD4 like E3 ubiquitin protein ligase,gene with protein product,18q21.31,The molecular basis of the disorder is known,Unknown,,606384,ENSG00000049759,,Q96PU5,Q96PU5,HGNC:7728 +GARD:0016211,Orphanet+OMIM,617217,OMIM:617217,1,GPR68,[OGR1],G protein-coupled receptor 68,gene with protein product,14q32.11,The molecular basis of the disorder is known,Unknown,,601404,ENSG00000119714,objectId:114,Q15743,Q15743,HGNC:4519 +GARD:0016212,Orphanet+OMIM,617239,OMIM:617239,1,SLC18A3,[VACHT],solute carrier family 18 member A3,gene with protein product,10q11.23,The molecular basis of the disorder is known,Unknown,,600336,ENSG00000187714,objectId:1013,Q16572,Q16572,HGNC:10936 +GARD:0016213,Orphanet+OMIM,617243,OMIM:617243,1,MAD2L2,"[FANCV, MAD2B, POLZ2, REV7, accessory subunit, mitotic arrest deficient homolog-like 2, polymerase (DNA-directed), zeta 2]",mitotic arrest deficient 2 like 2,gene with protein product,1p36.22,The molecular basis of the disorder is known,Unknown,,604094,ENSG00000116670,,Q9UI95,Q9UI95,HGNC:6764 +GARD:0016214,Orphanet+OMIM,617244,OMIM:617244,1,RAD51,"[BRCA1/BRCA2-containing complex, BRCC5, FANCR, HsRad51, HsT16930, subunit 5]",RAD51 recombinase,gene with protein product,15q15.1,The molecular basis of the disorder is known,Unknown,,179617,ENSG00000051180,,Q06609,Q06609,HGNC:9817 +GARD:0016215,Orphanet+OMIM,617247,OMIM:617247,1,XRCC2,"[FANCU, RAD51-like]",X-ray repair cross complementing 2,gene with protein product,7q36.1,The molecular basis of the disorder is known,Unknown,,600375,ENSG00000196584,,O43543,O43543,HGNC:12829 +GARD:0016216,Orphanet+OMIM,617251,OMIM:617251,1,TGM3,"[E polypeptide, TGE, protein-glutamine-gamma-glutamyltransferase]",transglutaminase 3,gene with protein product,20p13,The molecular basis of the disorder is known,Unknown,,600238,ENSG00000125780,,Q08188,,HGNC:11779 +GARD:0016217,Orphanet+OMIM,617252,OMIM:617252,1,TCHH,,trichohyalin,gene with protein product,1q21.3,The molecular basis of the disorder is known,Unknown,,190370,ENSG00000159450,,Q07283,Q07283,HGNC:11791 +GARD:0016218,Orphanet+OMIM,617276,OMIM:617276,1,AP3B2,[NAPTB],adaptor related protein complex 3 subunit beta 2,gene with protein product,15q25.2,The molecular basis of the disorder is known,Unknown,,602166,ENSG00000103723,,Q13367,,HGNC:567 +GARD:0016219,Orphanet+OMIM,617280,OMIM:617280,1,MYL4,"[ALC1, AMLC, GT1, PRO1957, atrial myosin light chain 1, atrial/fetal muscle, light chain, myosin]",myosin light chain 4,gene with protein product,17q21.32,The molecular basis of the disorder is known,Unknown,,160770,ENSG00000198336,,P12829,P12829,HGNC:7585 +GARD:0016220,Orphanet+OMIM,617297,OMIM:617297,1,ACP4,[testicular acid phosphatase],acid phosphatase 4,gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,606362,ENSG00000142513,,Q9BZG2,,HGNC:14376 +GARD:0016221,Orphanet+OMIM,617304,OMIM:617304,1,REEP6,"[DP1L1, FLJ25383, Yip2f, deleted in polyposis 1-like 1, polyposis locus protein 1-like 1]",receptor accessory protein 6,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,609346,ENSG00000115255,,Q96HR9,,HGNC:30078 +GARD:0016222,Orphanet+OMIM,617336,OMIM:617336,1,MYPN,"[145 kDa, MYOP, sarcomeric protein myopalladin]",myopalladin,gene with protein product,10q21.3,The molecular basis of the disorder is known,Unknown,,608517,ENSG00000138347,,Q86TC9,,HGNC:23246 +GARD:0016223,Orphanet+OMIM,617350,OMIM:617350,1,SCN1B,,sodium voltage-gated channel beta subunit 1,gene with protein product,19q13.11,The molecular basis of the disorder is known,Unknown,,600235,ENSG00000105711,,Q07699,Q07699,HGNC:10586 +GARD:0016224,Orphanet+OMIM,617389,OMIM:617389,1,SYNJ1,"[INPP5G, PARK20, inositol polyphosphate-5-phosphatase G, phosphoinositide 5-phosphatase, synaptic inositol 1;4;5-trisphosphate 5-phosphatase 1]",synaptojanin 1,gene with protein product,21q22.11,The molecular basis of the disorder is known,Unknown,,604297,ENSG00000159082,objectId:1461,O43426,O43426,HGNC:11503 +GARD:0016225,Orphanet+OMIM,617391,OMIM:617391,1,HNRNPU,"[FLJ30202, FLJ37978, SAF-A, scaffold attachment factor A]",heterogeneous nuclear ribonucleoprotein U,gene with protein product,1q44,The molecular basis of the disorder is known,Unknown,,602869,ENSG00000153187,,Q00839,Q00839,HGNC:5048 +GARD:0016226,Orphanet+OMIM,617406,OMIM:617406,1,CFAP418,"[BBS21, Bardet-Biedl syndrome 21, CORD16, FAP418, FLJ30600, MOT25, RP64, cone-rod dystrophy 16]",cilia and flagella associated protein 418,gene with protein product,8q22.1,The molecular basis of the disorder is known,Unknown,,614477,ENSG00000156172,,Q96NL8,,HGNC:27232 +GARD:0016227,Orphanet+OMIM,617408,OMIM:617408,1,RPL27,"[60S ribosomal protein L27, L27]",ribosomal protein L27,gene with protein product,17q21.31,The molecular basis of the disorder is known,Unknown,,607526,ENSG00000131469,,P61353,P61353,HGNC:10328 +GARD:0016228,Orphanet+OMIM,617409,OMIM:617409,1,RPS27,"[MPS-1, MPS1, S27, metallopanstimulin 1]",ribosomal protein S27,gene with protein product,1q21.3,The molecular basis of the disorder is known,Unknown,,603702,ENSG00000177954,,P42677,P42677,HGNC:10416 +GARD:0016229,Orphanet+OMIM,617433,OMIM:617433,1,ARHGEF18,"[KIAA0521, MGC15913, P114-RhoGEF, Rho-specific guanine nucleotide exchange factor p114, p114RhoGEF]",Rho/Rac guanine nucleotide exchange factor 18,gene with protein product,19p13.2,The molecular basis of the disorder is known,Unknown,,616432,ENSG00000104880,,Q6ZSZ5,Q6ZSZ5,HGNC:17090 +GARD:0016230,Orphanet+OMIM,617443,OMIM:617443,1,FLI1,"[EWSR2, FLI-1, SIC-1]","Fli-1 proto-oncogene, ETS transcription factor",gene with protein product,11q24.3,The molecular basis of the disorder is known,Unknown,,193067,ENSG00000151702,,Q01543,Q01543,HGNC:3749 +GARD:0016231,Orphanet+OMIM,617460,OMIM:617460,1,HK1,,hexokinase 1,gene with protein product,10q22.1,The molecular basis of the disorder is known,Unknown,,142600,ENSG00000156515,,P19367,P19367,HGNC:4922 +GARD:0016232,Orphanet+OMIM,617493,OMIM:617493,1,GNAO1,[G-ALPHA-o],G protein subunit alpha o1,gene with protein product,16q13,The molecular basis of the disorder is known,Unknown,,139311,ENSG00000087258,,P09471,P09471,HGNC:4389 +GARD:0016233,Orphanet+OMIM,617520,OMIM:617520,1,WDFY3,"[ALFY, KIAA0993, ZFYVE25]",WD repeat and FYVE domain containing 3,gene with protein product,4q21.23,The molecular basis of the disorder is known,Unknown,,617485,ENSG00000163625,,Q8IZQ1,,HGNC:20751 +GARD:0016234,Orphanet+OMIM,617542,OMIM:617542,1,DCC,"[DCC subclass, IGDCC1, NTN1R1, immunoglobulin superfamily, member 1]",DCC netrin 1 receptor,gene with protein product,18q21.2,The molecular basis of the disorder is known,Unknown,,120470,ENSG00000187323,,P43146,P43146,HGNC:2701 +GARD:0016235,Orphanet+OMIM,617561,OMIM:617561,1,EED,"[HEED, WAIT-1, WD protein associating with integrin cytoplasmic tails 1]",embryonic ectoderm development,gene with protein product,11q14.2,The molecular basis of the disorder is known,Unknown,,605984,ENSG00000074266,objectId:2487,O75530,O75530,HGNC:3188 +GARD:0016236,Orphanet+OMIM,617562,OMIM:617562,1,TMEM107,"[JBTS29, MGC10744, MKS13]",transmembrane protein 107,gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,616183,ENSG00000179029,,Q6UX40,,HGNC:28128 +GARD:0016237,Orphanet+OMIM,617565,OMIM:617565,1,ERAL1,[HERA-B],Era like 12S mitochondrial rRNA chaperone 1,gene with protein product,17q11.2,The molecular basis of the disorder is known,Unknown,,607435,ENSG00000132591,,O75616,O75616,HGNC:3424 +GARD:0016238,Orphanet+OMIM,617572,OMIM:617572,1,CTNNB1,"[armadillo, beta-catenin]",catenin beta 1,gene with protein product,3p22.1,The molecular basis of the disorder is known,Unknown,,116806,ENSG00000168036,ligandId:5371,P35222,P35222,HGNC:2514 +GARD:0016239,Orphanet+OMIM,617577,OMIM:617577,1,DNAH1,"[DNAHC1, HDHC7, HL-11, HL11, XLHSRF-1]",dynein axonemal heavy chain 1,gene with protein product,3p21.1,The molecular basis of the disorder is known,Unknown,,603332,ENSG00000114841,,Q9P2D7,,HGNC:2940 +GARD:0016240,Orphanet+OMIM,617598,OMIM:617598,1,TRIP13,"[16E1BP, thyroid receptor interacting protein 13]",thyroid hormone receptor interactor 13,gene with protein product,5p15.33,The molecular basis of the disorder is known,Unknown,,604507,ENSG00000071539,,Q15645,,HGNC:12307 +GARD:0016241,Orphanet+OMIM,617599,OMIM:617599,1,PIGP,"[DCRC, DSRC, phosphatidylinositol-n-acetylglucosaminyltranferase subunit P]",phosphatidylinositol glycan anchor biosynthesis class P,gene with protein product,21q22.13,The molecular basis of the disorder is known,Unknown,,605938,ENSG00000185808,,P57054,P57054,HGNC:3046 +GARD:0016242,Orphanet+OMIM,617610,OMIM:617610,1,DZIP1L,"[DZIP2, FLJ32844]",DAZ interacting zinc finger protein 1 like,gene with protein product,3q22.3,The molecular basis of the disorder is known,Unknown,,617570,ENSG00000158163,,Q8IYY4,,HGNC:26551 +GARD:0016243,Orphanet+OMIM,617622,OMIM:617622,1,ARMC9,"[ARM, FLJ12584, KIAA1868, KU-MEL-1]",armadillo repeat containing 9,gene with protein product,2q37.1,The molecular basis of the disorder is known,Unknown,,617612,ENSG00000135931,,Q7Z3E5,,HGNC:20730 +GARD:0016244,Orphanet+OMIM,617681,OMIM:617681,1,CTNND1,"[KIAA0384, p120, p120cas, p120ctn]",catenin delta 1,gene with protein product,11q12.1,The molecular basis of the disorder is known,Unknown,,601045,ENSG00000198561,,O60716,O60716,HGNC:2515 +GARD:0016245,Orphanet+OMIM,617706,OMIM:617706,1,MEIOB,[MGC35212],meiosis specific with OB-fold,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,617670,ENSG00000162039,,Q8N635,,HGNC:28569 +GARD:0016246,Orphanet+OMIM,617707,OMIM:617707,1,TEX14,"[CT113, cancer/testis antigen 113]","testis expressed 14, intercellular bridge forming factor",gene with protein product,17q22,The molecular basis of the disorder is known,Unknown,,605792,ENSG00000121101,objectId:2241,Q8IWB6,,HGNC:11737 +GARD:0016247,Orphanet+OMIM,617729,OMIM:617729,1,OSGEP,"[GCPL1, KAE1, OSGEP1, PRSMG1, TCS3]",O-sialoglycoprotein endopeptidase,gene with protein product,14q11.2,The molecular basis of the disorder is known,Unknown,,610107,ENSG00000092094,,Q9NPF4,Q9NPF4,HGNC:18028 +GARD:0016248,Orphanet+OMIM,617730,OMIM:617730,1,TP53RK,"[BUD32, Nori-2p, TPRKB, dJ101A2.2, p53-related protein kinase, prpk]",TP53 regulating kinase,gene with protein product,20q13.12,The molecular basis of the disorder is known,Unknown,,608679,ENSG00000172315,objectId:2248,Q96S44,Q96S44,HGNC:16197 +GARD:0016249,Orphanet+OMIM,617731,OMIM:617731,1,TPRKB,"[CGI-121, CGI121]",TP53RK binding protein,gene with protein product,2p13.1,The molecular basis of the disorder is known,Unknown,,608680,ENSG00000144034,,Q9Y3C4,Q9Y3C4,HGNC:24259 +GARD:0016250,Orphanet+OMIM,617760,OMIM:617760,1,MAP3K20,"[MLK7, MLTK, MLTKalpha, MLTKbeta, MRK, ZAK, ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium), mixed lineage kinase 7]",mitogen-activated protein kinase kinase kinase 20,gene with protein product,2q31.1,The molecular basis of the disorder is known,Unknown,,609479,ENSG00000091436,objectId:2289,Q9NYL2,,HGNC:17797 +GARD:0016251,Orphanet+OMIM,617761,OMIM:617761,1,CEP120,[FLJ36090],centrosomal protein 120,gene with protein product,5q23.2,The molecular basis of the disorder is known,Unknown,,613446,ENSG00000168944,,Q8N960,,HGNC:26690 +GARD:0016252,Orphanet+OMIM,617781,OMIM:617781,1,IFT140,"[KIAA0590, gs114]",intraflagellar transport 140,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,614620,ENSG00000187535,,Q96RY7,Q96RY7,HGNC:29077 +GARD:0016253,Orphanet+OMIM,617800,OMIM:617800,1,COPB2,"[beta'-COP, betaprime-COP, coatomer protein complex subunit beta prime]",COPI coat complex subunit beta 2,gene with protein product,3q23,The molecular basis of the disorder is known,Unknown,,606990,ENSG00000184432,,P35606,P35606,HGNC:2232 +GARD:0016254,Orphanet+OMIM,617808,OMIM:617808,1,ARID2,"[BAF200, DKFZp686G052, FLJ30619, KIAA1557, SMARCF3]",AT-rich interaction domain 2,gene with protein product,12q12,The molecular basis of the disorder is known,Unknown,,609539,ENSG00000189079,,Q68CP9,Q68CP9,HGNC:18037 +GARD:0016255,Orphanet+OMIM,617809,OMIM:617809,1,LTBP3,,latent transforming growth factor beta binding protein 3,gene with protein product,11q13.1,The molecular basis of the disorder is known,Unknown,,602090,ENSG00000168056,,Q9NS15,Q9NS15,HGNC:6716 +GARD:0016256,Orphanet+OMIM,617821,OMIM:617821,1,COL1A2,"[alpha 2(I)-collagen, alpha-2 chain, alpha-2 collagen type I, alpha-2 polypeptide, collagen I, collagen of skin, tendon and bone, type I procollagen]",collagen type I alpha 2 chain,gene with protein product,7q21.3,The molecular basis of the disorder is known,Unknown,,120160,ENSG00000164692,,P08123,P08123,HGNC:2198 +GARD:0016257,Orphanet+OMIM,617825,OMIM:617825,1,TXNRD2,"[SELZ, TR, TR3, TRXR2, selenoprotein Z, thioredoxin reductase beta]",thioredoxin reductase 2,gene with protein product,22q11.21,The molecular basis of the disorder is known,Unknown,,606448,ENSG00000184470,,Q9NNW7,Q9NNW7,HGNC:18155 +GARD:0016258,Orphanet+OMIM,617829,OMIM:617829,1,GABRB2,"[GABA(A) receptor, beta 2]",gamma-aminobutyric acid type A receptor subunit beta2,gene with protein product,5q34,The molecular basis of the disorder is known,Unknown,,600232,ENSG00000145864,objectId:411,P47870,P47870,HGNC:4082 +GARD:0016259,Orphanet+OMIM,617830,OMIM:617830,1,NTRK2,"[BDNF/NT-3 growth factors receptor, TRKB]",neurotrophic receptor tyrosine kinase 2,gene with protein product,9q21.33,The molecular basis of the disorder is known,Unknown,,600456,ENSG00000148053,objectId:1818,Q16620,Q16620,HGNC:8032 +GARD:0016260,Orphanet+OMIM,617831,OMIM:617831,1,NUS1,"[MGC7199, NgBR, Nogo-B receptor, TANGO14, transport and golgi organization 14 homolog (Drosophila)]",NUS1 dehydrodolichyl diphosphate synthase subunit,gene with protein product,6q22.1,The molecular basis of the disorder is known,Unknown,,610463,ENSG00000153989,,Q96E22,Q96E22,HGNC:21042 +GARD:0016261,Orphanet+OMIM,617836,OMIM:617836,1,DHDDS,"[DS, FLJ13102, HDS, RP59, hCIT]",dehydrodolichyl diphosphate synthase subunit,gene with protein product,1p36.11,The molecular basis of the disorder is known,Unknown,,608172,ENSG00000117682,,Q86SQ9,Q86SQ9,HGNC:20603 +GARD:0016262,Orphanet+OMIM,617839,OMIM:617839,1,ANXA11,[annexin XI],annexin A11,gene with protein product,10q22.3,The molecular basis of the disorder is known,Unknown,,602572,ENSG00000122359,,P50995,,HGNC:535 +GARD:0016263,Orphanet+OMIM,609265,OMIM:609265,1,CHEK2,"[CDS1, CHK2, HuCds1, PP1425, bA444G7]",checkpoint kinase 2,gene with protein product,22q12.1,The molecular basis of the disorder is known,Unknown,,604373,ENSG00000183765,objectId:1988,O96017,O96017,HGNC:16627 +GARD:0016264,Orphanet+OMIM,617883,OMIM:617883,1,BRCA1,"[BRCA1/BRCA2-containing complex, BRCC1, FANCS, Fanconi anemia, PPP1R53, RNF53, complementation group S, protein phosphatase 1, regulatory subunit 53, subunit 1]",BRCA1 DNA repair associated,gene with protein product,17q21.31,The molecular basis of the disorder is known,Unknown,,113705,ENSG00000012048,,P38398,P38398,HGNC:1100 +GARD:0016265,Orphanet+OMIM,617892,OMIM:617892,1,NEK1,"[KIAA1901, NY-REN-55]",NIMA related kinase 1,gene with protein product,4q33,The molecular basis of the disorder is known,Unknown,,604588,ENSG00000137601,objectId:2114,Q96PY6,,HGNC:7744 +GARD:0016266,Orphanet+OMIM,617899,OMIM:617899,1,UFM1,[bA131P10.1],ubiquitin fold modifier 1,gene with protein product,13q13.3,The molecular basis of the disorder is known,Unknown,,610553,ENSG00000120686,,P61960,,HGNC:20597 +GARD:0016267,Orphanet+OMIM,617900,OMIM:617900,1,TBK1,[NAK],TANK binding kinase 1,gene with protein product,12q14.2,The molecular basis of the disorder is known,Unknown,,604834,ENSG00000183735,objectId:2237,Q9UHD2,Q9UHD2,HGNC:11584 +GARD:0016268,Orphanet+OMIM,617914,OMIM:617914,1,KIF14,[KIAA0042],kinesin family member 14,gene with protein product,1q32.1,The molecular basis of the disorder is known,Unknown,,611279,ENSG00000118193,,Q15058,Q15058,HGNC:19181 +GARD:0016269,Orphanet+OMIM,617924,OMIM:617924,1,CILK1,"[KIAA0936, LCK2, MAK-related kinase, MGC46090, MRK, serine/threonine-protein kinase ICK]",ciliogenesis associated kinase 1,gene with protein product,6p12.1,The molecular basis of the disorder is known,Unknown,,612325,ENSG00000112144,objectId:2038,Q9UPZ9,,HGNC:21219 +GARD:0016270,Orphanet+OMIM,617929,OMIM:617929,1,CNPY3,[CAG4A],canopy FGF signaling regulator 3,gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,610774,ENSG00000137161,,Q9BT09,Q9BT09,HGNC:11968 +GARD:0016271,Orphanet+OMIM,617938,OMIM:617938,1,SCN3A,[Nav1.3],sodium voltage-gated channel alpha subunit 3,gene with protein product,2q24.3,The molecular basis of the disorder is known,Unknown,,182391,ENSG00000153253,objectId:580,Q9NY46,Q9NY46,HGNC:10590 +GARD:0016272,Orphanet+OMIM,617941,OMIM:617941,1,EFL1,"[FAM42A, FLJ13119, HsT19294, RIA1, ribosome assembly 1 homolog (yeast)]",elongation factor like GTPase 1,gene with protein product,15q25.2,The molecular basis of the disorder is known,Unknown,,617538,ENSG00000140598,,Q7Z2Z2,,HGNC:25789 +GARD:0016273,Orphanet+OMIM,617948,OMIM:617948,1,SPTB,"[clinical type I, spherocytosis]","spectrin beta, erythrocytic",gene with protein product,14q23.3,The molecular basis of the disorder is known,Unknown,,182870,ENSG00000070182,,P11277,P11277,HGNC:11274 +GARD:0016274,Orphanet+OMIM,617960,OMIM:617960,1,TEX15,"[CT42, cancer/testis antigen 42]","testis expressed 15, meiosis and synapsis associated",gene with protein product,8p12,The molecular basis of the disorder is known,Unknown,,605795,ENSG00000133863,,Q9BXT5,Q9BXT5,HGNC:11738 +GARD:0016275,Orphanet+OMIM,617970,OMIM:617970,1,RHCE,[CD240CE],Rh blood group CcEe antigens,gene with protein product,1p36.11,The molecular basis of the disorder is known,Unknown,,111700,ENSG00000188672,,P18577,P18577,HGNC:10008 +GARD:0016276,Orphanet+OMIM,617971,OMIM:617971,1,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,The molecular basis of the disorder is known,Unknown,,141900,ENSG00000244734,ligandId:5370,P68871,P68871,HGNC:4827 +GARD:0016277,Orphanet+OMIM,617973,OMIM:617973,1,HBA1,[HBA-T3],hemoglobin subunit alpha 1,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,141800,ENSG00000206172,,P69905,P69905,HGNC:4823 +GARD:0016278,Orphanet+OMIM,617983,OMIM:617983,1,NCAPD2,"[CAP-D2, CNAP1, KIAA0159, chromosome condensation related SMC associated protein 1, hCAP-D2]",non-SMC condensin I complex subunit D2,gene with protein product,12p13.31,The molecular basis of the disorder is known,Unknown,,615638,ENSG00000010292,,Q15021,Q15021,HGNC:24305 +GARD:0016279,Orphanet+OMIM,617984,OMIM:617984,1,NCAPD3,"[CAP-D3, FLJ42888, KIAA0056, hCAP-D3, hHCP-6, hcp-6]",non-SMC condensin II complex subunit D3,gene with protein product,11q25,The molecular basis of the disorder is known,Unknown,,609276,ENSG00000151503,,P42695,P42695,HGNC:28952 +GARD:0016280,Orphanet+OMIM,617985,OMIM:617985,1,NCAPH,"[CAP-H, hCAP-H]",non-SMC condensin I complex subunit H,gene with protein product,2q11.2,The molecular basis of the disorder is known,Unknown,,602332,ENSG00000121152,,Q15003,Q15003,HGNC:1112 +GARD:0016281,Orphanet+OMIM,617993,OMIM:617993,1,FGF23,,fibroblast growth factor 23,gene with protein product,12p13.32,The molecular basis of the disorder is known,Unknown,,605380,ENSG00000118972,ligandId:9291,Q9GZV9,Q9GZV9,HGNC:3680 +GARD:0016282,Orphanet+OMIM,617994,OMIM:617994,1,KL,"[KLA, alpha-klotho]",klotho,gene with protein product,13q13.1,The molecular basis of the disorder is known,Unknown,,604824,ENSG00000133116,objectId:3146,Q9UEF7,Q9UEF7,HGNC:6344 +GARD:0016283,Orphanet+OMIM,618008,OMIM:618008,1,CYFIP2,"[PIR121, p53 inducible protein]",cytoplasmic FMR1 interacting protein 2,gene with protein product,5q33.3,The molecular basis of the disorder is known,Unknown,,606323,ENSG00000055163,,Q96F07,Q96F07,HGNC:13760 +GARD:0016284,Orphanet+OMIM,618011,OMIM:618011,1,ATAD1,"[FLJ14600, Msp1, thorase]",ATPase family AAA domain containing 1,gene with protein product,10q23.31,The molecular basis of the disorder is known,Unknown,,614452,ENSG00000138138,,Q8NBU5,Q8NBU5,HGNC:25903 +GARD:0016285,Orphanet+OMIM,618012,OMIM:618012,1,ATP6V1A,"[V-ATPase subunit A, V-type proton ATPase (V-ATPase) catalytic subunit A, VA68, Vma1]",ATPase H+ transporting V1 subunit A,gene with protein product,3q13.31,The molecular basis of the disorder is known,Unknown,,607027,ENSG00000114573,objectId:810,P38606,P38606,HGNC:851 +GARD:0016286,Orphanet+OMIM,618021,OMIM:618021,1,RSPO2,[MGC35555],R-spondin 2,gene with protein product,8q23.1,The molecular basis of the disorder is known,Unknown,,610575,ENSG00000147655,ligandId:3698,Q6UXX9,Q6UXX9,HGNC:28583 +GARD:0016287,Orphanet+OMIM,618027,OMIM:618027,1,DPF2,"[BAF45d, SMARCG2, ubi-d4]",double PHD fingers 2,gene with protein product,11q13.1,The molecular basis of the disorder is known,Unknown,,601671,ENSG00000133884,,Q92785,,HGNC:9964 +GARD:0016288,Orphanet+OMIM,618063,OMIM:618063,1,CFAP300,"[DNAAF17, FBB5, MGC13040, dynein axonemal assembly factor 17]",cilia and flagella associated protein 300,gene with protein product,11q22.1,The molecular basis of the disorder is known,Unknown,,618058,ENSG00000137691,,Q9BRQ4,,HGNC:28188 +GARD:0016289,Orphanet+OMIM,618065,OMIM:618065,1,EXOSC9,"[PM/Scl-75, RRP45, Rrp45p, p5, p6, polymyositis/scleroderma autoantigen 1 (75kD)]",exosome component 9,gene with protein product,4q27,The molecular basis of the disorder is known,Unknown,,606180,ENSG00000123737,,Q06265,Q06265,HGNC:9137 +GARD:0016290,Orphanet+OMIM,618086,OMIM:618086,1,FANCM,[FAAP250],FA complementation group M,gene with protein product,14q21.2,The molecular basis of the disorder is known,Unknown,,609644,ENSG00000187790,,Q8IYD8,Q8IYD8,HGNC:23168 +GARD:0016291,Orphanet+OMIM,618110,OMIM:618110,1,TDRD9,"[DKFZp434N0820, FLJ36164, NET54]",tudor domain containing 9,gene with protein product,14q32.33,The molecular basis of the disorder is known,Unknown,,617963,ENSG00000156414,,Q8NDG6,Q8NDG6,HGNC:20122 +GARD:0016292,Orphanet+OMIM,618115,OMIM:618115,1,SOHLH1,"[NOHLH, SPATA27, TEB2, bA100C15.3, bHLHe80, spermatogenesis associated 27]",spermatogenesis and oogenesis specific basic helix-loop-helix 1,gene with protein product,9q34.3,The molecular basis of the disorder is known,Unknown,,610224,ENSG00000165643,,Q5JUK2,,HGNC:27845 +GARD:0016293,Orphanet+OMIM,618123,OMIM:618123,1,GLI1,,GLI family zinc finger 1,gene with protein product,12q13.3,The molecular basis of the disorder is known,Unknown,,165220,ENSG00000111087,,P08151,P08151,HGNC:4317 +GARD:0016294,Orphanet+OMIM,618135,OMIM:618135,1,POMGNT2,"[AGO61, FLJ14566, protein O-mannose beta-1;4-N-acetylglucosaminyltransferase 2]","protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",gene with protein product,3p22.1,The molecular basis of the disorder is known,Unknown,,614828,ENSG00000144647,,Q8NAT1,Q8NAT1,HGNC:25902 +GARD:0016295,Orphanet+OMIM,618141,OMIM:618141,1,CUX2,"[CDP2, KIAA0293]",cut like homeobox 2,gene with protein product,12q24.11-q24.12,The molecular basis of the disorder is known,Unknown,,610648,ENSG00000111249,,O14529,,HGNC:19347 +GARD:0016296,Orphanet+OMIM,618154,OMIM:618154,1,ADAMTS3,"[ADAMTS-4, KIAA0366]",ADAM metallopeptidase with thrombospondin type 1 motif 3,gene with protein product,4q13.3,The molecular basis of the disorder is known,Unknown,,605011,ENSG00000156140,objectId:1676,O15072,O15072,HGNC:219 +GARD:0016297,Orphanet+OMIM,618161,OMIM:618161,1,ARL3,[ARFL3],ADP ribosylation factor like GTPase 3,gene with protein product,10q24.32,The molecular basis of the disorder is known,Unknown,,604695,ENSG00000138175,,P36405,P36405,HGNC:694 +GARD:0016298,Orphanet+OMIM,618173,OMIM:618173,1,ARL3,[ARFL3],ADP ribosylation factor like GTPase 3,gene with protein product,10q24.32,The molecular basis of the disorder is known,Unknown,,604695,ENSG00000138175,,P36405,P36405,HGNC:694 +GARD:0016299,Orphanet+OMIM,618176,OMIM:618176,1,NUP85,"[FLJ12549, NUP75]",nucleoporin 85,gene with protein product,17q25.1,The molecular basis of the disorder is known,Unknown,,170285,ENSG00000125450,,Q9BW27,Q9BW27,HGNC:8734 +GARD:0016300,Orphanet+OMIM,618177,OMIM:618177,1,NUP133,[FLJ10814],nucleoporin 133,gene with protein product,1q42.13,The molecular basis of the disorder is known,Unknown,,607613,ENSG00000069248,,Q8WUM0,Q8WUM0,HGNC:18016 +GARD:0016301,Orphanet+OMIM,618178,OMIM:618178,1,NUP160,"[FLJ22583, KIAA0197]",nucleoporin 160,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,607614,ENSG00000030066,,Q12769,Q12769,HGNC:18017 +GARD:0016302,Orphanet+OMIM,618179,OMIM:618179,1,NUP37,"[FLJ22618, MGC5585]",nucleoporin 37,gene with protein product,12q23.2,The molecular basis of the disorder is known,Unknown,,609264,ENSG00000075188,,Q8NFH4,Q8NFH4,HGNC:29929 +GARD:0016303,Orphanet+OMIM,618185,OMIM:618185,1,ARF1,,ADP ribosylation factor 1,gene with protein product,1q42.13,The molecular basis of the disorder is known,Unknown,,103180,ENSG00000143761,ligandId:5305,P84077,P84077,HGNC:652 +GARD:0016304,Orphanet+OMIM,618188,OMIM:618188,1,TRPV6,[CaT1],transient receptor potential cation channel subfamily V member 6,gene with protein product,7q34,The molecular basis of the disorder is known,Unknown,,606680,ENSG00000165125,objectId:512,Q9H1D0,Q9H1D0,HGNC:14006 +GARD:0016305,Orphanet+OMIM,618189,OMIM:618189,1,PPCS,[FLJ11838],phosphopantothenoylcysteine synthetase,gene with protein product,1p34.2,The molecular basis of the disorder is known,Unknown,,609853,ENSG00000127125,,Q9HAB8,Q9HAB8,HGNC:25686 +GARD:0016306,Orphanet+OMIM,618195,OMIM:618195,1,SCAPER,[Zfp291],S-phase cyclin A associated protein in the ER,gene with protein product,15q24.3,The molecular basis of the disorder is known,Unknown,,611611,ENSG00000140386,,Q9BY12,,HGNC:13081 +GARD:0016307,Orphanet+OMIM,618196,OMIM:618196,1,EPHB4,[Tyro11],EPH receptor B4,gene with protein product,7q22.1,The molecular basis of the disorder is known,Unknown,,600011,ENSG00000196411,objectId:1833,P54760,P54760,HGNC:3395 +GARD:0016308,Orphanet+OMIM,618197,OMIM:618197,1,SLC25A1,"[CIC, CTP, Tricarboxylate transport protein, citrate isocitrate carrier, citrate transport protein, mitochondrial]",solute carrier family 25 member 1,gene with protein product,22q11.21,The molecular basis of the disorder is known,Unknown,,190315,ENSG00000100075,objectId:1051,P53007,P53007,HGNC:10979 +GARD:0016309,Orphanet+OMIM,618198,OMIM:618198,1,MYO9A,"[FLJ11061, FLJ13244, MGC71859]",myosin IXA,gene with protein product,15q23,The molecular basis of the disorder is known,Unknown,,604875,ENSG00000066933,,B2RTY4,B2RTY4,HGNC:7608 +GARD:0016310,Orphanet+OMIM,618201,OMIM:618201,1,TRAK1,"[KIAA1042, MILT1, O-linked N-acetylglucosamine transferase interacting protein 106, OGT(O Glc NAc transferase) interacting protein 106 KDa, OIP106, milton homolog 1 (Drosophila)]",trafficking kinesin protein 1,gene with protein product,3p22.1,The molecular basis of the disorder is known,Unknown,,608112,ENSG00000182606,,Q9UPV9,Q9UPV9,HGNC:29947 +GARD:0016311,Orphanet+OMIM,618220,OMIM:618220,1,DHX38,"[KIAA0224, PRP16, PRPF16, hPrp16]",DEAH-box helicase 38,gene with protein product,16q22.2,The molecular basis of the disorder is known,Unknown,,605584,ENSG00000140829,,Q92620,Q92620,HGNC:17211 +GARD:0016312,Orphanet+OMIM,618222,OMIM:618222,1,NDUFS8,"[CI-23k, NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, TYKY, complex I 23kDa subunit, mitochondrial]",NADH:ubiquinone oxidoreductase core subunit S8,gene with protein product,11q13.2,The molecular basis of the disorder is known,Unknown,,602141,ENSG00000110717,,O00217,O00217,HGNC:7715 +GARD:0016313,Orphanet+OMIM,618224,OMIM:618224,1,NDUFS7,"[CI-20, FLJ45860, FLJ46880, NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, PSST, complex I 20kDa subunit, mitochondrial]",NADH:ubiquinone oxidoreductase core subunit S7,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,601825,ENSG00000115286,,O75251,O75251,HGNC:7714 +GARD:0016314,Orphanet+OMIM,618225,OMIM:618225,1,NDUFV1,"[CI-51K, NADH dehydrogenase [ubiquinone] flavoprotein 1, complex I 51kDa subunit, mitochondrial]",NADH:ubiquinone oxidoreductase core subunit V1,gene with protein product,11q13.2,The molecular basis of the disorder is known,Unknown,,161015,ENSG00000167792,,P49821,P49821,HGNC:7716 +GARD:0016315,Orphanet+OMIM,618226,OMIM:618226,1,NDUFS1,"[CI-75k, NADH-ubiquinone oxidoreductase 75 kDa subunit, complex I 75kDa subunit, mitochondrial]",NADH:ubiquinone oxidoreductase core subunit S1,gene with protein product,2q33.3,The molecular basis of the disorder is known,Unknown,,157655,ENSG00000023228,,P28331,P28331,HGNC:7707 +GARD:0016316,Orphanet+OMIM,618228,OMIM:618228,1,NDUFS2,"[CI-49, NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, complex I 49kDa subunit, mitochondrial]",NADH:ubiquinone oxidoreductase core subunit S2,gene with protein product,1q23.3,The molecular basis of the disorder is known,Unknown,,602985,ENSG00000158864,,O75306,O75306,HGNC:7708 +GARD:0016317,Orphanet+OMIM,618229,OMIM:618229,1,NDUFV2,"[CI-24k, NADH dehydrogenase [ubiquinone] flavoprotein 2, complex I 24kDa subunit, mitochondrial]",NADH:ubiquinone oxidoreductase core subunit V2,gene with protein product,18p11.22,The molecular basis of the disorder is known,Unknown,,600532,ENSG00000178127,,P19404,P19404,HGNC:7717 +GARD:0016318,Orphanet+OMIM,618230,OMIM:618230,1,NDUFS3,"[CI-30, NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, complex I 30kDa subunit, mitochondrial]",NADH:ubiquinone oxidoreductase core subunit S3,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,603846,ENSG00000213619,,O75489,O75489,HGNC:7710 +GARD:0016319,Orphanet+OMIM,618232,OMIM:618232,1,NDUFS6,"[CI-13kA, NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, complex I 13kDa subunit A, mitochondrial]",NADH:ubiquinone oxidoreductase subunit S6,gene with protein product,5p15.33,The molecular basis of the disorder is known,Unknown,,603848,ENSG00000145494,,O75380,O75380,HGNC:7713 +GARD:0016320,Orphanet+OMIM,618233,OMIM:618233,1,NDUFAF2,"[B17.2L, MMTN, Myc-induced mitochondrial protein, mimitin]",NADH:ubiquinone oxidoreductase complex assembly factor 2,gene with protein product,5q12.1,The molecular basis of the disorder is known,Unknown,,609653,ENSG00000164182,,Q8N183,Q8N183,HGNC:28086 +GARD:0016321,Orphanet+OMIM,618234,OMIM:618234,1,NDUFAF1,"[CGI-65, CIA30]",NADH:ubiquinone oxidoreductase complex assembly factor 1,gene with protein product,15q15.1,The molecular basis of the disorder is known,Unknown,,606934,ENSG00000137806,,Q9Y375,Q9Y375,HGNC:18828 +GARD:0016322,Orphanet+OMIM,618236,OMIM:618236,1,NDUFA11,"[B14.7, complex I B14.7 subunit]",NADH:ubiquinone oxidoreductase subunit A11,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,612638,ENSG00000174886,,Q86Y39,Q86Y39,HGNC:20371 +GARD:0016323,Orphanet+OMIM,618237,OMIM:618237,1,NDUFAF4,"[HRPAP20, HSPC125, My013, bA22L21.1]",NADH:ubiquinone oxidoreductase complex assembly factor 4,gene with protein product,6q16.1,The molecular basis of the disorder is known,Unknown,,611776,ENSG00000123545,,Q9P032,Q9P032,HGNC:21034 +GARD:0016324,Orphanet+OMIM,618238,OMIM:618238,1,NDUFAF5,[dJ842G6.1],NADH:ubiquinone oxidoreductase complex assembly factor 5,gene with protein product,20p12.1,The molecular basis of the disorder is known,Unknown,,612360,ENSG00000101247,,Q5TEU4,Q5TEU4,HGNC:15899 +GARD:0016325,Orphanet+OMIM,618240,OMIM:618240,1,NDUFAF3,"[2P1, DKFZP564J0123, E3-3, MGC10527]",NADH:ubiquinone oxidoreductase complex assembly factor 3,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,612911,ENSG00000178057,,Q9BU61,Q9BU61,HGNC:29918 +GARD:0016326,Orphanet+OMIM,618241,OMIM:618241,1,FOXRED1,[H17],FAD dependent oxidoreductase domain containing 1,gene with protein product,11q24.2,The molecular basis of the disorder is known,Unknown,,613622,ENSG00000110074,,Q96CU9,,HGNC:26927 +GARD:0016327,Orphanet+OMIM,618242,OMIM:618242,1,NUBPL,"[FLJ12660, IND1, huInd1, iron-sulfur protein required for NADH dehydrogenase]","NUBP iron-sulfur cluster assembly factor, mitochondrial",gene with protein product,14q12,The molecular basis of the disorder is known,Unknown,,613621,ENSG00000151413,,Q8TB37,Q8TB37,HGNC:20278 +GARD:0016328,Orphanet+OMIM,618245,OMIM:618245,1,NDUFB9,"[B22, LYRM3, UQOR22, complex I B22 subunit]",NADH:ubiquinone oxidoreductase subunit B9,gene with protein product,8q24.13,The molecular basis of the disorder is known,Unknown,,601445,ENSG00000147684,,Q9Y6M9,Q9Y6M9,HGNC:7704 +GARD:0016329,Orphanet+OMIM,618246,OMIM:618246,1,NDUFB3,"[B12, complex I B12 subunit]",NADH:ubiquinone oxidoreductase subunit B3,gene with protein product,2q33.1,The molecular basis of the disorder is known,Unknown,,603839,ENSG00000119013,,O43676,O43676,HGNC:7698 +GARD:0016330,Orphanet+OMIM,618250,OMIM:618250,1,TMEM126B,[HT007],transmembrane protein 126B,gene with protein product,11q14.1,The molecular basis of the disorder is known,Unknown,,615533,ENSG00000171204,,Q8IUX1,Q8IUX1,HGNC:30883 +GARD:0016331,Orphanet+OMIM,618251,OMIM:618251,1,TIMMDC1,[FLJ22597],translocase of inner mitochondrial membrane domain containing 1,gene with protein product,3q13.33,The molecular basis of the disorder is known,Unknown,,615534,ENSG00000113845,,Q9NPL8,Q9NPL8,HGNC:1321 +GARD:0016332,Orphanet+OMIM,618253,OMIM:618253,1,NDUFA6,"[B14, CI-B14, LYRM6, NADHB14, complex I B14 subunit]",NADH:ubiquinone oxidoreductase subunit A6,gene with protein product,22q13.2,The molecular basis of the disorder is known,Unknown,,602138,ENSG00000184983,,P56556,P56556,HGNC:7690 +GARD:0016333,Orphanet+OMIM,618264,OMIM:618264,1,NTN1,"[NET1, NTN1L, Netrin-1]",netrin 1,gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,601614,ENSG00000065320,,O95631,O95631,HGNC:8029 +GARD:0016334,Orphanet+OMIM,618267,OMIM:618267,1,CIB1,"[CIB, KIP, SIP2-28, calmyrin]",calcium and integrin binding 1,gene with protein product,15q26.1,The molecular basis of the disorder is known,Unknown,,602293,ENSG00000185043,,Q99828,,HGNC:16920 +GARD:0016335,Orphanet+OMIM,618275,OMIM:618275,1,LSS,"[OSC, Oxidosqualene-lanosterol cyclase]",lanosterol synthase,gene with protein product,21q22.3,The molecular basis of the disorder is known,Unknown,,600909,ENSG00000160285,objectId:2434,P48449,P48449,HGNC:6708 +GARD:0016336,Orphanet+OMIM,618298,OMIM:618298,1,PHACTR1,"[KIAA1733, dJ257A7.2]",phosphatase and actin regulator 1,gene with protein product,6p24.1,The molecular basis of the disorder is known,Unknown,,608723,ENSG00000112137,,Q9C0D0,,HGNC:20990 +GARD:0016337,Orphanet+OMIM,618309,OMIM:618309,1,IL7,[IL-7],interleukin 7,gene with protein product,8q21.13,The molecular basis of the disorder is known,Unknown,,146660,ENSG00000104432,ligandId:4999,P13232,P13232,HGNC:6023 +GARD:0016338,Orphanet+OMIM,618310,OMIM:618310,1,RPL18,"[60S ribosomal protein L18, L18]",ribosomal protein L18,gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,604179,ENSG00000063177,,Q07020,Q07020,HGNC:10310 +GARD:0016339,Orphanet+OMIM,618312,OMIM:618312,1,RPL35,"[60S ribosomal protein L35, L35]",ribosomal protein L35,gene with protein product,9q33.3,The molecular basis of the disorder is known,Unknown,,618315,ENSG00000136942,,P42766,P42766,HGNC:10344 +GARD:0016340,Orphanet+OMIM,618313,OMIM:618313,1,RPS15A,[S15A],ribosomal protein S15a,gene with protein product,16p12.3,The molecular basis of the disorder is known,Unknown,,603674,ENSG00000134419,,P62244,P62244,HGNC:10389 +GARD:0016341,Orphanet+OMIM,618323,OMIM:618323,1,VAMP1,[VAMP-1],vesicle associated membrane protein 1,gene with protein product,12p13.31,The molecular basis of the disorder is known,Unknown,,185880,ENSG00000139190,,P23763,P23763,HGNC:12642 +GARD:0016342,Orphanet+OMIM,618345,OMIM:618345,1,AHR,[bHLHe76],aryl hydrocarbon receptor,gene with protein product,7p21.1,The molecular basis of the disorder is known,Unknown,,600253,ENSG00000106546,objectId:2951,P35869,P35869,HGNC:348 +GARD:0016343,Orphanet+OMIM,618347,OMIM:618347,1,WDR4,"[TRM82, TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae), TRMT82, Wuho]",WD repeat domain 4,gene with protein product,21q22.3,The molecular basis of the disorder is known,Unknown,,605924,ENSG00000160193,,P57081,P57081,HGNC:12756 +GARD:0016344,Orphanet+OMIM,618348,OMIM:618348,1,NUP107,"[NUP84, nuclear pore complex protein Nup107]",nucleoporin 107,gene with protein product,12q15,The molecular basis of the disorder is known,Unknown,,607617,ENSG00000111581,,P57740,P57740,HGNC:29914 +GARD:0016345,Orphanet+OMIM,618349,OMIM:618349,1,NUP133,[FLJ10814],nucleoporin 133,gene with protein product,1q42.13,The molecular basis of the disorder is known,Unknown,,607613,ENSG00000069248,,Q8WUM0,Q8WUM0,HGNC:18016 +GARD:0016346,Orphanet+OMIM,618351,OMIM:618351,1,TRAPPC14,[FLJ10925],trafficking protein particle complex subunit 14,gene with protein product,7q22.1,The molecular basis of the disorder is known,Unknown,,618350,ENSG00000146826,,Q8WVR3,,HGNC:25604 +GARD:0016347,Orphanet+OMIM,618362,OMIM:618362,1,SMARCC2,"[BAF170, CRACC2, Rsc8]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2",gene with protein product,12q13.2,The molecular basis of the disorder is known,Unknown,,601734,ENSG00000139613,,Q8TAQ2,Q8TAQ2,HGNC:11105 +GARD:0016348,Orphanet+OMIM,618395,OMIM:618395,1,EXOC6B,[KIAA0919],exocyst complex component 6B,gene with protein product,2p13.2,The molecular basis of the disorder is known,Unknown,,607880,ENSG00000144036,,Q9Y2D4,,HGNC:17085 +GARD:0016349,Orphanet+OMIM,618396,OMIM:618396,1,GABRG2,"[GABA(A) receptor, gamma 2]",gamma-aminobutyric acid type A receptor subunit gamma2,gene with protein product,5q34,The molecular basis of the disorder is known,Unknown,,137164,ENSG00000113327,objectId:414,P18507,P18507,HGNC:4087 +GARD:0016350,Orphanet+OMIM,618415,OMIM:618415,1,DNMBP,"[ARHGEF36, KIAA1010, Tuba, scaffold protein TUBA]",dynamin binding protein,gene with protein product,10q24.2,The molecular basis of the disorder is known,Unknown,,611282,ENSG00000107554,,Q6XZF7,Q6XZF7,HGNC:30373 +GARD:0016351,Orphanet+OMIM,618435,OMIM:618435,1,TNNT3,"[AMCD2B, DA2B, DKFZp779M2348, FSSV, fast, skeletal, troponin-T3]","troponin T3, fast skeletal type",gene with protein product,11p15.5,The molecular basis of the disorder is known,Unknown,,600692,ENSG00000130595,,P45378,P45378,HGNC:11950 +GARD:0016352,Orphanet+OMIM,618437,OMIM:618437,1,PARS2,"[DKFZp727A071, mitochondrial (putative), proline tRNA ligase 2]","prolyl-tRNA synthetase 2, mitochondrial",gene with protein product,1p32.3,The molecular basis of the disorder is known,Unknown,,612036,ENSG00000162396,,Q7L3T8,Q7L3T8,HGNC:30563 +GARD:0016353,Orphanet+OMIM,618449,OMIM:618449,1,GAS2L2,[GAR17],growth arrest specific 2 like 2,gene with protein product,17q12,The molecular basis of the disorder is known,Unknown,,611398,ENSG00000270765,,Q8NHY3,,HGNC:24846 +GARD:0016354,Orphanet+OMIM,618464,OMIM:618464,1,SLC25A11,[OGC],solute carrier family 25 member 11,gene with protein product,17p13.2,The molecular basis of the disorder is known,Unknown,,604165,ENSG00000108528,objectId:1053,Q02978,Q02978,HGNC:10981 +GARD:0016355,Orphanet+OMIM,618468,OMIM:618468,1,ACTL6B,"[BAF53B, SMARCN2]",actin like 6B,gene with protein product,7q22.1,The molecular basis of the disorder is known,Unknown,,612458,ENSG00000077080,,O94805,O94805,HGNC:160 +GARD:0016356,Orphanet+OMIM,618475,OMIM:618475,1,DLST,"[2-oxoglutarate dehydrogenase complex component E2, Dihydrolipoyllysine-residue succinyltransferase, KGD2, OGDC-E2]",dihydrolipoamide S-succinyltransferase,gene with protein product,14q24.3,The molecular basis of the disorder is known,Unknown,,126063,ENSG00000119689,,P36957,P36957,HGNC:2911 +GARD:0016357,Orphanet+OMIM,618499,OMIM:618499,1,MRAS,"[M-RAs, R-RAS3, RRAS3]",muscle RAS oncogene homolog,gene with protein product,3q22.3,The molecular basis of the disorder is known,Unknown,,608435,ENSG00000158186,,O14807,O14807,HGNC:7227 +GARD:0016358,Orphanet+OMIM,618506,OMIM:618506,1,SOX4,,SRY-box transcription factor 4,gene with protein product,6p22.3,The molecular basis of the disorder is known,Unknown,,184430,ENSG00000124766,,Q06945,Q06945,HGNC:11200 +GARD:0016359,Orphanet+OMIM,618513,OMIM:618513,1,USP45,[MGC14793],ubiquitin specific peptidase 45,gene with protein product,6q16.2,The molecular basis of the disorder is known,Unknown,,618439,ENSG00000123552,,Q70EL2,Q70EL2,HGNC:20080 +GARD:0016360,Orphanet+OMIM,618534,OMIM:618534,1,RASGRP1,"[CalDAG-GEFII, RASGRP, calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II]",RAS guanyl releasing protein 1,gene with protein product,15q14,The molecular basis of the disorder is known,Unknown,,603962,ENSG00000172575,objectId:3016,O95267,O95267,HGNC:9878 +GARD:0016361,Orphanet+OMIM,618535,OMIM:618535,1,CST6,,cystatin E/M,gene with protein product,11q13.1,The molecular basis of the disorder is known,Unknown,,601891,ENSG00000175315,,Q15828,,HGNC:2478 +GARD:0016362,Orphanet+OMIM,618546,OMIM:618546,1,TARS1,"[cytoplasmic, threonine tRNA ligase 1]",threonyl-tRNA synthetase 1,gene with protein product,5p13.3,The molecular basis of the disorder is known,Unknown,,187790,ENSG00000113407,,P26639,P26639,HGNC:11572 +GARD:0016363,Orphanet+OMIM,618548,OMIM:618548,1,PIGQ,"[GPI1, Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q, hGPI1]",phosphatidylinositol glycan anchor biosynthesis class Q,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,605754,ENSG00000007541,,Q9BRB3,Q9BRB3,HGNC:14135 +GARD:0016364,Orphanet+OMIM,618555,OMIM:618555,1,GUCY2D,"[CYGD, LCA1, RETGC-1, ROS-GC1, retGC, retinal guanylate cyclase 1, rod outer segment membrane guanylate cyclase]","guanylate cyclase 2D, retinal",gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,600179,ENSG00000132518,objectId:2031,Q02846,Q02846,HGNC:4689 +GARD:0016365,Orphanet+OMIM,618557,OMIM:618557,1,GABRA2,"[GABA(A) receptor, alpha 2]",gamma-aminobutyric acid type A receptor subunit alpha2,gene with protein product,4p12,The molecular basis of the disorder is known,Unknown,,137140,ENSG00000151834,objectId:405,P47869,P47869,HGNC:4076 +GARD:0016366,Orphanet+OMIM,618559,OMIM:618559,1,GABRA5,"[GABA(A) receptor, alpha 5]",gamma-aminobutyric acid type A receptor subunit alpha5,gene with protein product,15q12,The molecular basis of the disorder is known,Unknown,,137142,ENSG00000186297,objectId:408,P31644,P31644,HGNC:4079 +GARD:0016367,Orphanet+OMIM,618587,OMIM:618587,1,AP2M1,"[AP-2 mu 2 chain, AP50, HA2 50 kDA subunit, clathrin adaptor complex AP2, clathrin assembly protein complex 2 medium chain, clathrin coat adaptor protein AP50, clathrin-associated/assembly/adaptor protein, medium 1, mu subunit, mu2, plasma membrane adaptor AP-2 50kDA protein]",adaptor related protein complex 2 subunit mu 1,gene with protein product,3q27.1,The molecular basis of the disorder is known,Unknown,,601024,ENSG00000161203,,Q96CW1,Q96CW1,HGNC:564 +GARD:0016368,Orphanet+OMIM,618613,OMIM:618613,1,KIAA1549,,KIAA1549,gene with protein product,7q34,The molecular basis of the disorder is known,Unknown,,613344,ENSG00000122778,,Q9HCM3,Q9HCM3,HGNC:22219 +GARD:0016369,Orphanet+OMIM,618624,OMIM:618624,1,RRAS2,[TC21],RAS related 2,gene with protein product,11p15.2,The molecular basis of the disorder is known,Unknown,,600098,ENSG00000133818,,P62070,P62070,HGNC:17271 +GARD:0016370,Orphanet+OMIM,618632,OMIM:618632,1,ESPN,,espin,gene with protein product,1p36.31,The molecular basis of the disorder is known,Unknown,,606351,ENSG00000187017,,B1AK53,B1AK53,HGNC:13281 +GARD:0016371,Orphanet+OMIM,618658,OMIM:618658,1,KCNN3,"[KCa2.3, SKCA3, hSK3, small conductance calcium-activated potassium channel 3]",potassium calcium-activated channel subfamily N member 3,gene with protein product,1q21.3,The molecular basis of the disorder is known,Unknown,,602983,ENSG00000143603,objectId:383,Q9UGI6,Q9UGI6,HGNC:6292 +GARD:0016372,Orphanet+OMIM,618666,OMIM:618666,1,ABCG5,"[STSL, sterolin 1]",ATP binding cassette subfamily G member 5,gene with protein product,2p21,The molecular basis of the disorder is known,Unknown,,605459,ENSG00000138075,objectId:794,Q9H222,Q9H222,HGNC:13886 +GARD:0016373,Orphanet+OMIM,618695,OMIM:618695,1,MCIDAS,"[IDAS, MCI, multicilin]",multiciliate differentiation and DNA synthesis associated cell cycle protein,gene with protein product,5q11.2,The molecular basis of the disorder is known,Unknown,,614086,ENSG00000234602,,D6RGH6,,HGNC:40050 +GARD:0016374,Orphanet+OMIM,618697,OMIM:618697,1,RPE65,"[BCO family, BCO3, LCA2, all-trans-retinyl-palmitate hydrolase, member 3, rd12, retinol isomerase]",retinoid isomerohydrolase RPE65,gene with protein product,1p31.3,The molecular basis of the disorder is known,Unknown,,180069,ENSG00000116745,,Q16518,Q16518,HGNC:10294 +GARD:0016375,Orphanet+OMIM,618752,OMIM:618752,1,SRP54,,signal recognition particle 54,gene with protein product,14q13.2,The molecular basis of the disorder is known,Unknown,,604857,ENSG00000100883,,P61011,P61011,HGNC:11301 +GARD:0016376,Orphanet+OMIM,618763,OMIM:618763,1,FAM149B1,,family with sequence similarity 149 member B1,gene with protein product,10q22.2,The molecular basis of the disorder is known,Unknown,,618413,ENSG00000138286,,Q96BN6,,HGNC:29162 +GARD:0016377,Orphanet+OMIM,618775,OMIM:618775,1,UQCRFS1,"[RIP1, RIS1, RISP, UQCR5, cytochrome b-c1 complex subunit 5]","ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1",gene with protein product,19q12,The molecular basis of the disorder is known,Unknown,,191327,ENSG00000169021,,P47985,P47985,HGNC:12587 +GARD:0016378,Orphanet+OMIM,618776,OMIM:618776,1,NDUFAF8,,NADH:ubiquinone oxidoreductase complex assembly factor 8,gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,618461,ENSG00000224877,,A1L188,,HGNC:33551 +GARD:0016379,Orphanet+OMIM,618779,OMIM:618779,1,SMARCD1,"[BAF60A, CRACD1, Rsc6p]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1",gene with protein product,12q13.12,The molecular basis of the disorder is known,Unknown,,601735,ENSG00000066117,,Q96GM5,Q96GM5,HGNC:11106 +GARD:0016380,Orphanet+OMIM,618781,OMIM:618781,1,NEK10,[FLJ32685],NIMA related kinase 10,gene with protein product,3p24.1,The molecular basis of the disorder is known,Unknown,,618726,ENSG00000163491,objectId:2115,Q6ZWH5,,HGNC:18592 +GARD:0016381,Orphanet+OMIM,618786,OMIM:618786,1,SUZ12,"[CHET9, JJAZ1, KIAA0160]",SUZ12 polycomb repressive complex 2 subunit,gene with protein product,17q11.2,The molecular basis of the disorder is known,Unknown,,606245,ENSG00000178691,,Q15022,Q15022,HGNC:17101 +GARD:0016382,Orphanet+OMIM,618795,OMIM:618795,1,LACC1,"[FAMIN, FLJ38725, fatty acid metabolism–immunity nexus]",laccase domain containing 1,gene with protein product,13q14.11,The molecular basis of the disorder is known,Unknown,,613409,ENSG00000179630,,Q8IV20,,HGNC:26789 +GARD:0016383,Orphanet+OMIM,618801,OMIM:618801,1,TTC12,"[FLJ13859, FLJ20535, TPARM, tetratricopeptide repeat and armadillo repeat protein]",tetratricopeptide repeat domain 12,gene with protein product,11q23.2,The molecular basis of the disorder is known,Unknown,,610732,ENSG00000149292,,Q9H892,,HGNC:23700 +GARD:0016384,Orphanet+OMIM,618824,OMIM:618824,1,JAM2,"[CD322, JAM-2, JAM-B, JAMB, VE-JAM, junctional adhesion molecule B, vascular endothelial junction-associated molecule]",junctional adhesion molecule 2,gene with protein product,21q21.3,The molecular basis of the disorder is known,Unknown,,606870,ENSG00000154721,,P57087,P57087,HGNC:14686 +GARD:0016385,Orphanet+OMIM,618826,OMIM:618826,1,RP1L1,"[DCDC4B, doublecortin domain containing 4B]",RP1 like 1,gene with protein product,8p23.1,The molecular basis of the disorder is known,Unknown,,608581,ENSG00000183638,,Q8IWN7,,HGNC:15946 +GARD:0016386,Orphanet+OMIM,618840,OMIM:618840,1,LSS,"[OSC, Oxidosqualene-lanosterol cyclase]",lanosterol synthase,gene with protein product,21q22.3,The molecular basis of the disorder is known,Unknown,,600909,ENSG00000160285,objectId:2434,P48449,P48449,HGNC:6708 +GARD:0016387,Orphanet+OMIM,618841,OMIM:618841,1,NDNF,[FLJ23191],neuron derived neurotrophic factor,gene with protein product,4q27,The molecular basis of the disorder is known,Unknown,,616506,ENSG00000173376,,Q8TB73,,HGNC:26256 +GARD:0016388,Orphanet+OMIM,618856,OMIM:618856,1,KCNJ11,"[ATP-sensitive inward rectifier potassium channel 11, BIR, Kir6.2, beta-cell inward rectifier]",potassium inwardly rectifying channel subfamily J member 11,gene with protein product,11p15.1,The molecular basis of the disorder is known,Unknown,,600937,ENSG00000187486,objectId:442,Q14654,Q14654,HGNC:6257 +GARD:0016389,Orphanet+OMIM,618857,OMIM:618857,1,ABCC8,"[ABC36, HHF1, HI, MRP8, PHHI, SUR1, TNDM2, sulfonylurea receptor (hyperinsulinemia)]",ATP binding cassette subfamily C member 8,gene with protein product,11p15.1,The molecular basis of the disorder is known,Unknown,,600509,ENSG00000006071,objectId:2594,Q09428,Q09428,HGNC:59 +GARD:0016390,Orphanet+OMIM,618858,OMIM:618858,1,INS,,insulin,gene with protein product,11p15.5,The molecular basis of the disorder is known,Unknown,,176730,ENSG00000254647,ligandId:6145,P01308,P01308,HGNC:6081 +GARD:0016391,Orphanet+OMIM,618910,OMIM:618910,1,DALRD3,[FLJ10496],DALR anticodon binding domain containing 3,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,618904,ENSG00000178149,,Q5D0E6,,HGNC:25536 +GARD:0016392,Orphanet+OMIM,618913,OMIM:618913,1,NDUFAF6,[MGC40214],NADH:ubiquinone oxidoreductase complex assembly factor 6,gene with protein product,8q22.1,The molecular basis of the disorder is known,Unknown,,612392,ENSG00000156170,,Q330K2,Q330K2,HGNC:28625 +GARD:0016393,Orphanet+OMIM,618916,OMIM:618916,1,CDK19,"[KIAA1028, bA346C16.3]",cyclin dependent kinase 19,gene with protein product,6q21,The molecular basis of the disorder is known,Unknown,,614720,ENSG00000155111,objectId:1972,Q9BWU1,Q9BWU1,HGNC:19338 +GARD:0016394,Orphanet+OMIM,618918,OMIM:618918,1,MAP1B,"[MAP5, PPP1R102, protein phosphatase 1, regulatory subunit 102]",microtubule associated protein 1B,gene with protein product,5q13.2,The molecular basis of the disorder is known,Unknown,,157129,ENSG00000131711,,P46821,,HGNC:6836 +GARD:0016395,Orphanet+OMIM,618935,OMIM:618935,1,CYBC1,"[Eros, FLJ90469, MGC4368]",cytochrome b-245 chaperone 1,gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,618334,ENSG00000178927,,Q9BQA9,,HGNC:28672 +GARD:0016396,Orphanet+OMIM,618939,OMIM:618939,1,POLR1B,"[FLJ10816, FLJ21921, RPA135, RPA2, Rpo1-2]",RNA polymerase I subunit B,gene with protein product,2q14.1,The molecular basis of the disorder is known,Unknown,,602000,ENSG00000125630,,Q9H9Y6,Q9H9Y6,HGNC:20454 +GARD:0016397,Orphanet+OMIM,618940,OMIM:618940,1,GIPC1,"[GIPC, GLUT1CBP, Hs.6454, NIP, SEMCAP, SYNECTIN, TIP-2]",GIPC PDZ domain containing family member 1,gene with protein product,19p13.12,The molecular basis of the disorder is known,Unknown,,605072,ENSG00000123159,,O14908,,HGNC:1226 +GARD:0016398,Orphanet+OMIM,618959,OMIM:618959,1,MDH1,,malate dehydrogenase 1,gene with protein product,2p15,The molecular basis of the disorder is known,Unknown,,154200,ENSG00000014641,,P40925,P40925,HGNC:6970 +GARD:0016399,Orphanet+OMIM,618977,OMIM:618977,1,AFG3L2,[SPAX5],AFG3 like matrix AAA peptidase subunit 2,gene with protein product,18p11.21,The molecular basis of the disorder is known,Unknown,,604581,ENSG00000141385,,Q9Y4W6,Q9Y4W6,HGNC:315 +GARD:0016400,Orphanet+OMIM,618998,OMIM:618998,1,RC3H1,"[KIAA2025, KIAA2025 protein, RNF198, RP5-1198E17.5, roquin]",ring finger and CCCH-type domains 1,gene with protein product,1q25.1,The molecular basis of the disorder is known,Unknown,,609424,ENSG00000135870,,Q5TC82,,HGNC:29434 +GARD:0016401,Orphanet+OMIM,619003,OMIM:619003,1,NDUFB10,"[PDSW, complex I PDSW subunit]",NADH:ubiquinone oxidoreductase subunit B10,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,603843,ENSG00000140990,,O96000,O96000,HGNC:7696 +GARD:0016402,Orphanet+OMIM,619016,OMIM:619016,1,SREBF1,"[SREBP-1c, SREBP1, SREBP1a, Sterol regulatory element-binding protein 1, bHLHd1]",sterol regulatory element binding transcription factor 1,gene with protein product,17p11.2,The molecular basis of the disorder is known,Unknown,,184756,ENSG00000072310,,P36956,P36956,HGNC:11289 +GARD:0016403,Orphanet+OMIM,619028,OMIM:619028,1,COQ5,"[2-methoxy-6-polyprenyl-1;4-benzoquinol methylase, MGC4767]","coenzyme Q5, methyltransferase",gene with protein product,12q24.31,The molecular basis of the disorder is known,Unknown,,616359,ENSG00000110871,,Q5HYK3,Q5HYK3,HGNC:28722 +GARD:0016404,Orphanet+OMIM,619046,OMIM:619046,1,COX10,"[heme O synthase, mitochondrial, protoheme IX farnesyltransferase]",cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10,gene with protein product,17p12,The molecular basis of the disorder is known,Unknown,,602125,ENSG00000006695,,Q12887,Q12887,HGNC:2260 +GARD:0016405,Orphanet+OMIM,619048,OMIM:619048,1,SCO1,,synthesis of cytochrome C oxidase 1,gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,603644,ENSG00000133028,,O75880,O75880,HGNC:10603 +GARD:0016406,Orphanet+OMIM,619051,OMIM:619051,1,COX6B1,[COXG],cytochrome c oxidase subunit 6B1,gene with protein product,19q13.12,The molecular basis of the disorder is known,Unknown,,124089,ENSG00000126267,,P14854,P14854,HGNC:2280 +GARD:0016407,Orphanet+OMIM,619052,OMIM:619052,1,TACO1,[translational activator of COX I],translational activator of cytochrome c oxidase I,gene with protein product,17q23.3,The molecular basis of the disorder is known,Unknown,,612958,ENSG00000136463,,Q9BSH4,Q9BSH4,HGNC:24316 +GARD:0016408,Orphanet+OMIM,619053,OMIM:619053,1,COX14,[MGC14288],cytochrome c oxidase assembly factor COX14,gene with protein product,12q13.12,The molecular basis of the disorder is known,Unknown,,614478,ENSG00000178449,,Q96I36,Q96I36,HGNC:28216 +GARD:0016409,Orphanet+OMIM,619054,OMIM:619054,1,COX20,[FLJ43269],cytochrome c oxidase assembly factor COX20,gene with protein product,1q44,The molecular basis of the disorder is known,Unknown,,614698,ENSG00000203667,,Q5RI15,Q5RI15,HGNC:26970 +GARD:0016410,Orphanet+OMIM,619055,OMIM:619055,1,PET100,,PET100 cytochrome c oxidase chaperone,gene with protein product,19p13.2,The molecular basis of the disorder is known,Unknown,,614770,ENSG00000229833,,P0DJ07,,HGNC:40038 +GARD:0016411,Orphanet+OMIM,619058,OMIM:619058,1,COA3,"[COX25, HSPC009, MITRAC12, hCOA3]",cytochrome c oxidase assembly factor 3,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,614775,ENSG00000183978,,Q9Y2R0,,HGNC:24990 +GARD:0016412,Orphanet+OMIM,619059,OMIM:619059,1,COX8A,"[COX, COX8-2, COX8L, VIII, VIII-L]",cytochrome c oxidase subunit 8A,gene with protein product,11q13.1,The molecular basis of the disorder is known,Unknown,,123870,ENSG00000176340,,P10176,P10176,HGNC:2294 +GARD:0016413,Orphanet+OMIM,619060,OMIM:619060,1,COX4I1,"[COX4-1, COXIV, COXIV-1]",cytochrome c oxidase subunit 4I1,gene with protein product,16q24.1,The molecular basis of the disorder is known,Unknown,,123864,ENSG00000131143,,P13073,P13073,HGNC:2265 +GARD:0016414,Orphanet+OMIM,619061,OMIM:619061,1,COA8,"[APOP-1, MGC2562, apoptogenic protein 1]",cytochrome c oxidase assembly factor 8,gene with protein product,14q32.33,The molecular basis of the disorder is known,Unknown,,616003,ENSG00000256053,,Q96IL0,,HGNC:20492 +GARD:0016415,Orphanet+OMIM,619062,OMIM:619062,1,COX6A2,"[COX6AH, COXVIAH, COXVIa-M]",cytochrome c oxidase subunit 6A2,gene with protein product,16p11.2,The molecular basis of the disorder is known,Unknown,,602009,ENSG00000156885,,Q02221,,HGNC:2279 +GARD:0016416,Orphanet+OMIM,619063,OMIM:619063,1,PET117,[CSRP2BP],PET117 cytochrome c oxidase chaperone,gene with protein product,20p11.23,The molecular basis of the disorder is known,Unknown,,614771,ENSG00000232838,,Q6UWS5,,HGNC:40045 +GARD:0016417,Orphanet+OMIM,619064,OMIM:619064,1,COX5A,,cytochrome c oxidase subunit 5A,gene with protein product,15q24.2,The molecular basis of the disorder is known,Unknown,,603773,ENSG00000178741,,P20674,P20674,HGNC:2267 +GARD:0016418,Orphanet+OMIM,619065,OMIM:619065,1,NDUFA4,"[CI-9k, COXFA4, MISTR1, MLRQ, MRCAF1, NADH-ubiquinone oxidoreductase MLRQ subunit, complex I 9kDa subunit, cytochrome c oxidase subunit FA4, mitochondrial respiratory chain associated factor 1, mitochondrial stress response 1]",NDUFA4 mitochondrial complex associated,gene with protein product,7p21.3,The molecular basis of the disorder is known,Unknown,,603833,ENSG00000189043,,O00483,O00483,HGNC:7687 +GARD:0016419,Orphanet+OMIM,619087,OMIM:619087,1,MAPK1,"[ERK, ERK2, MAPK2, p41mapk]",mitogen-activated protein kinase 1,gene with protein product,22q11.22,The molecular basis of the disorder is known,Unknown,,176948,ENSG00000100030,objectId:1495,P28482,P28482,HGNC:6871 +GARD:0016420,Orphanet+OMIM,619108,OMIM:619108,1,M1AP,"[D6Mm5e, SPATA37, meiosis 1 arresting protein, spermatogenesis associated 37]",meiosis 1 associated protein,gene with protein product,2p13.1,The molecular basis of the disorder is known,Unknown,,619098,ENSG00000159374,,Q8TC57,,HGNC:25183 +GARD:0016421,Orphanet+OMIM,619110,OMIM:619110,1,MYL11,"[HUMMLC2B, MRLC2, light chain 11, myosin, myosin regulatory light chain 2, regulatory]",myosin light chain 11,gene with protein product,16p11.2,The molecular basis of the disorder is known,Unknown,,617378,ENSG00000180209,,Q96A32,Q96A32,HGNC:29824 +GARD:0016422,Orphanet+OMIM,619111,OMIM:619111,1,CC2D2A,"[JBTS9, KIAA1345, MKS6, Meckel syndrome, type 6]",coiled-coil and C2 domain containing 2A,gene with protein product,4p15.32,The molecular basis of the disorder is known,Unknown,,612013,ENSG00000048342,,Q9P2K1,Q9P2K1,HGNC:29253 +GARD:0016423,Orphanet+OMIM,619113,OMIM:619113,1,RPGRIP1L,"[CORS3, FTM, JBTS7, KIAA1005, MKS5, Meckel syndrome, NPHP8, PPP1R134, fantom homolog, protein phosphatase 1, regulatory subunit 134, type 5]",RPGRIP1 like,gene with protein product,16q12.2,The molecular basis of the disorder is known,Unknown,,610937,ENSG00000103494,,Q68CZ1,Q68CZ1,HGNC:29168 +GARD:0016424,Orphanet+OMIM,619124,OMIM:619124,1,GAD1,,glutamate decarboxylase 1,gene with protein product,2q31.1,The molecular basis of the disorder is known,Unknown,,605363,ENSG00000128683,objectId:1272,Q99259,Q99259,HGNC:4092 +GARD:0016425,Orphanet+OMIM,619133,OMIM:619133,1,TIA1,"[T-cell-restricted intracellular antigen-1, TIA-1, nucleolysin TIA-1 isoform p40]",TIA1 cytotoxic granule associated RNA binding protein,gene with protein product,2p13.3,The molecular basis of the disorder is known,Unknown,,603518,ENSG00000116001,,P31483,P31483,HGNC:11802 +GARD:0016426,Orphanet+OMIM,619135,OMIM:619135,1,VPS35L,[MGC16824],VPS35 endosomal protein sorting factor like,gene with protein product,16p12.3,The molecular basis of the disorder is known,Unknown,,618981,ENSG00000103544,,Q7Z3J2,Q7Z3J2,HGNC:24641 +GARD:0016427,Orphanet+OMIM,619141,OMIM:619141,1,CCNF,"[FBX1, FBXO1]",cyclin F,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,600227,ENSG00000162063,,P41002,P41002,HGNC:1591 +GARD:0016428,Orphanet+OMIM,619155,OMIM:619155,1,NOS1AP,"[C-terminal PDZ domain ligand of neuronal nitric oxide synthase, CAPON, KIAA0464]",nitric oxide synthase 1 adaptor protein,gene with protein product,1q23.3,The molecular basis of the disorder is known,Unknown,,605551,ENSG00000198929,,O75052,,HGNC:16859 +GARD:0016429,Orphanet+OMIM,619166,OMIM:619166,1,SDHAF1,"[LYR motif containing 8, LYRM8]",succinate dehydrogenase complex assembly factor 1,gene with protein product,19q13.12,The molecular basis of the disorder is known,Unknown,,612848,ENSG00000205138,,A6NFY7,,HGNC:33867 +GARD:0016430,Orphanet+OMIM,619167,OMIM:619167,1,SDHD,"[cybS, small subunit of cytochrome b]",succinate dehydrogenase complex subunit D,gene with protein product,11q23.1,The molecular basis of the disorder is known,Unknown,,602690,ENSG00000204370,,O14521,O14521,HGNC:10683 +GARD:0016431,Orphanet+OMIM,619170,OMIM:619170,1,NDUFC2,"[B14.5b, HLC-1, complex I subunit B14.5b, human lung cancer oncogene 1]",NADH:ubiquinone oxidoreductase subunit C2,gene with protein product,11q14.1,The molecular basis of the disorder is known,Unknown,,603845,ENSG00000151366,,O95298,O95298,HGNC:7706 +GARD:0016432,Orphanet+OMIM,619179,OMIM:619179,1,LMNB1,,lamin B1,gene with protein product,5q23.2,The molecular basis of the disorder is known,Unknown,,150340,ENSG00000113368,,P20700,P20700,HGNC:6637 +GARD:0016433,Orphanet+OMIM,619180,OMIM:619180,1,LMNB2,,lamin B2,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,150341,ENSG00000176619,,Q03252,,HGNC:6638 +GARD:0016434,Orphanet+OMIM,619185,OMIM:619185,1,TOGARAM1,"[Crescerin-1, crescerin, crescerin]",TOG array regulator of axonemal microtubules 1,gene with protein product,14q21.2,The molecular basis of the disorder is known,Unknown,,617618,ENSG00000198718,,Q9Y4F4,,HGNC:19959 +GARD:0016435,Orphanet+OMIM,619201,OMIM:619201,1,KIRREL1,"[NEPH1, nephrin-like protein 1]",kirre like nephrin family adhesion molecule 1,gene with protein product,1q23.1,The molecular basis of the disorder is known,Unknown,,607428,ENSG00000183853,,Q96J84,Q96J84,HGNC:15734 +GARD:0016436,Orphanet+OMIM,619202,OMIM:619202,1,C14orf39,[SIX6OS1],chromosome 14 open reading frame 39,gene with protein product,14q23.1,The molecular basis of the disorder is known,Unknown,,617307,ENSG00000179008,,Q8N1H7,,HGNC:19849 +GARD:0016437,Orphanet+OMIM,619208,OMIM:619208,1,PERP,"[KCP1, KRTCAP1, PIGPC1, THW, dJ496H19.1, keratinocyte associated protein 1]",p53 apoptosis effector related to PMP22,gene with protein product,6q23.3,The molecular basis of the disorder is known,Unknown,,609301,ENSG00000112378,,Q96FX8,Q96FX8,HGNC:17637 +GARD:0016438,Orphanet+OMIM,619224,OMIM:619224,1,SDHB,"[iron-sulfur subunit of complex II, succinate dehydrogenase [ubiquinone] iron-sulfur subunit]",succinate dehydrogenase complex iron sulfur subunit B,gene with protein product,1p36.13,The molecular basis of the disorder is known,Unknown,,185470,ENSG00000117118,,P21912,P21912,HGNC:10681 +GARD:0016439,Orphanet+OMIM,619267,OMIM:619267,1,ITGB3,"[CD61, GPIIIa, antigen CD61, platelet glycoprotein IIIa]",integrin subunit beta 3,gene with protein product,17q21.32,The molecular basis of the disorder is known,Unknown,,173470,ENSG00000259207,objectId:2457,P05106,P05106,HGNC:6156 +GARD:0016440,Orphanet+OMIM,619272,OMIM:619272,1,NDUFA8,"[MGC793, PGIV, complex I PGIV subunit]",NADH:ubiquinone oxidoreductase subunit A8,gene with protein product,9q33.2,The molecular basis of the disorder is known,Unknown,,603359,ENSG00000119421,,P51970,P51970,HGNC:7692 +GARD:0016441,Orphanet+OMIM,619303,OMIM:619303,1,SLC25A46,[Mitochondrial outer membrane protein],solute carrier family 25 member 46,gene with protein product,5q22.1,The molecular basis of the disorder is known,Unknown,,610826,ENSG00000164209,objectId:1096,Q96AG3,,HGNC:25198 +GARD:0016442,Orphanet+OMIM,619304,OMIM:619304,1,EXOSC1,"[CGI-108, CSL4, CSL4 exosomal core protein homolog (yeast), Csl4p, SKI4, Ski4p, hCsl4p, p13]",exosome component 1,gene with protein product,10q24.1,The molecular basis of the disorder is known,Unknown,,606493,ENSG00000171311,,Q9Y3B2,Q9Y3B2,HGNC:17286 +GARD:0016443,Orphanet+OMIM,619325,OMIM:619325,1,BICRA,[SMARCK1],BRD4 interacting chromatin remodeling complex associated protein,gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,605690,ENSG00000063169,,Q9NZM4,,HGNC:4332 +GARD:0016444,Orphanet+OMIM,619339,OMIM:619339,1,CHUK,"[I-kappa-B kinase, IKK-alpha, IKK1, IKKA, IkBKA, NFKBIKA, inhibitor of nuclear factor kappa-B kinase subunit alpha]",component of inhibitor of nuclear factor kappa B kinase complex,gene with protein product,10q24.31,The molecular basis of the disorder is known,Unknown,,600664,ENSG00000213341,objectId:1989,O15111,O15111,HGNC:1974 +GARD:0016445,Orphanet+OMIM,619340,OMIM:619340,1,NSF,"[N-ethylmaleimide-sensitive factor-like protein, SEC18, SKD2]","N-ethylmaleimide sensitive factor, vesicle fusing ATPase",gene with protein product,17q21.31,The molecular basis of the disorder is known,Unknown,,601633,ENSG00000073969,,P46459,P46459,HGNC:8016 +GARD:0016446,Orphanet+OMIM,619350,OMIM:619350,1,MYH11,"[SMHC, SMMHC, SMMS-1]",myosin heavy chain 11,gene with protein product,16p13.11,The molecular basis of the disorder is known,Unknown,,160745,ENSG00000133392,,P35749,P35749,HGNC:7569 +GARD:0016447,Orphanet+OMIM,619351,OMIM:619351,1,MYH11,"[SMHC, SMMHC, SMMS-1]",myosin heavy chain 11,gene with protein product,16p13.11,The molecular basis of the disorder is known,Unknown,,160745,ENSG00000133392,,P35749,P35749,HGNC:7569 +GARD:0016448,Orphanet+OMIM,619355,OMIM:619355,1,COX16,[HSPC203],cytochrome c oxidase assembly factor COX16,gene with protein product,14q24.2,The molecular basis of the disorder is known,Unknown,,618064,ENSG00000133983,,Q9P0S2,Q9P0S2,HGNC:20213 +GARD:0016449,Orphanet+OMIM,613093,OMIM:613093,1,PDE6C,"[ACHM5, COD4, Cone cGMP-specific 3';5'-cyclic phosphodiesterase subunit alpha, PDEA2]",phosphodiesterase 6C,gene with protein product,10q23.33,The molecular basis of the disorder is known,Unknown,,600827,ENSG00000095464,objectId:1314,P51160,,HGNC:8787 +GARD:0016450,Orphanet+OMIM,158350,OMIM:158350,1,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,The molecular basis of the disorder is known,Unknown,,601728,ENSG00000171862,objectId:2497,P60484,P60484,HGNC:9588 +GARD:0016451,Orphanet+OMIM,251450,OMIM:251450,1,CANT1,"[SCAN-1, SHAPY, Soluble Ca-Activated Nucleotidase, apyrase 1 homolog (C. lectularius), isozyme 1]",calcium activated nucleotidase 1,gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,613165,ENSG00000171302,,Q8WVQ1,Q8WVQ1,HGNC:19721 +GARD:0016452,Orphanet+OMIM,278730,OMIM:278730,1,ERCC2,"[EM9, MAG, MGC102762, MGC126218, MGC126219, TFIIH basal transcription factor complex helicase XPB subunit, complementation group 2 protein, excision repair cross-complementing rodent repair deficiency]","ERCC excision repair 2, TFIIH core complex helicase subunit",gene with protein product,19q13.32,The molecular basis of the disorder is known,Unknown,,126340,ENSG00000104884,,P18074,P18074,HGNC:3434 +GARD:0016453,Orphanet+OMIM,611944,OMIM:611944,1,LMPH1B,[LMPHM2],Lymphatic malformation 2,unknown,6q16.2-q22.1,The disease phenotype itself was mapped,Unknown,,611944,,,,,GeneID:100188865 +GARD:0016454,Orphanet+OMIM,612580,OMIM:612580,1,CDH15,,cadherin 15,gene with protein product,16q24.3,The molecular basis of the disorder is known,Unknown,,114019,ENSG00000129910,,P55291,P55291,HGNC:1754 +GARD:0016455,Orphanet+OMIM,612581,OMIM:612581,1,MRD4,,"Intellectual developmental disorder, autosomal dominant 4",unknown,11q24.2,The disease phenotype itself was mapped,Unknown,,612581,,,,,GeneID:112441440 +GARD:0016456,Orphanet+OMIM,613480,OMIM:613480,1,GJC2,"[CX46.6, CX47, SPG44, connexin 47]",gap junction protein gamma 2,gene with protein product,1q42.13,The molecular basis of the disorder is known,Unknown,,608803,ENSG00000198835,objectId:731,Q5T442,Q5T442,HGNC:17494 +GARD:0016457,Orphanet+OMIM,613943,OMIM:613943,1,LIPN,[bA186O14.3],lipase family member N,gene with protein product,10q23.31,The molecular basis of the disorder is known,Unknown,,613924,ENSG00000204020,,Q5VXI9,Q5VXI9,HGNC:23452 +GARD:0016458,Orphanet+OMIM,614113,OMIM:614113,1,MRD2,,"Intellectual developmental disorder, autosomal dominant 2",,9p24,The disorder is a chromosome deletion or duplication syndrome,Unknown,,614113,,,,,OMIM:614113 +GARD:0016459,Orphanet+OMIM,614255,OMIM:614255,1,KIF1A,[UNC104],kinesin family member 1A,gene with protein product,2q37.3,The molecular basis of the disorder is known,Unknown,,601255,ENSG00000130294,,Q12756,Q12756,HGNC:888 +GARD:0016460,Orphanet+OMIM,614256,OMIM:614256,1,CACNG2,"[MGC138502, MGC138504, stargazin]",calcium voltage-gated channel auxiliary subunit gamma 2,gene with protein product,22q12.3,The molecular basis of the disorder is known,Unknown,,602911,ENSG00000166862,,Q9Y698,Q9Y698,HGNC:1406 +GARD:0016461,Orphanet+OMIM,614257,OMIM:614257,1,EPB41L1,"[4.1N, KIAA0338]",erythrocyte membrane protein band 4.1 like 1,gene with protein product,20q11.23,The molecular basis of the disorder is known,Unknown,,602879,ENSG00000088367,,Q9H4G0,Q9H4G0,HGNC:3378 +GARD:0016462,Orphanet+OMIM,614563,OMIM:614563,1,DYNC1H1,"[CMT2O, DHC1, Dnchc1, HL-3, p22]",dynein cytoplasmic 1 heavy chain 1,gene with protein product,14q32.31,The molecular basis of the disorder is known,Unknown,,600112,ENSG00000197102,,Q14204,Q14204,HGNC:2961 +GARD:0016463,Orphanet+OMIM,615107,OMIM:615107,1,KLLN,[killin],"killin, p53 regulated DNA replication inhibitor",gene with protein product,10q23.31,The molecular basis of the disorder is known,Unknown,,612105,ENSG00000227268,,B2CW77,,HGNC:37212 +GARD:0016464,Orphanet+OMIM,615108,OMIM:615108,1,PIK3CA,[PI3K],"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",gene with protein product,3q26.32,The molecular basis of the disorder is known,Unknown,,171834,ENSG00000121879,objectId:2153,P42336,P42336,HGNC:8975 +GARD:0016465,Orphanet+OMIM,615109,OMIM:615109,1,AKT1,"[AKT, PKB, PRKBA, RAC, RAC-alpha, protein kinase B]",AKT serine/threonine kinase 1,gene with protein product,14q32.33,The molecular basis of the disorder is known,Unknown,,164730,ENSG00000142208,objectId:1479,P31749,P31749,HGNC:391 +GARD:0016466,Orphanet+OMIM,615777,OMIM:615777,1,XYLT1,"[PXYLT1, XT-I, protein xylosyltransferase 1]",xylosyltransferase 1,gene with protein product,16p12.3,The molecular basis of the disorder is known,Unknown,,608124,ENSG00000103489,,Q86Y38,Q86Y38,HGNC:15516 +GARD:0016467,Orphanet+OMIM,615828,OMIM:615828,1,DEAF1,"[NUDR, SPN, ZMYND5]",DEAF1 transcription factor,gene with protein product,11p15.5,The molecular basis of the disorder is known,Unknown,,602635,ENSG00000177030,,O75398,,HGNC:14677 +GARD:0016468,Orphanet+OMIM,615907,OMIM:615907,1,VEGFC,"[VEGF-C, VRP, vascular endothelial growth factor-related protein]",vascular endothelial growth factor C,gene with protein product,4q34.3,The molecular basis of the disorder is known,Unknown,,601528,ENSG00000150630,ligandId:5087,P49767,P49767,HGNC:12682 +GARD:0016469,Orphanet+OMIM,616393,OMIM:616393,1,EEF1A2,"[EEF1AL, HS1]",eukaryotic translation elongation factor 1 alpha 2,gene with protein product,20q13.33,The molecular basis of the disorder is known,Unknown,,602959,ENSG00000101210,,Q05639,Q05639,HGNC:3192 +GARD:0016470,Orphanet+OMIM,616858,OMIM:616858,1,SEC23B,"[CDA-II, CDAII, HEMPAS]","SEC23 homolog B, COPII coat complex component",gene with protein product,20p11.23,The molecular basis of the disorder is known,Unknown,,610512,ENSG00000101310,,Q15437,,HGNC:10702 +GARD:0016471,Orphanet+OMIM,617571,OMIM:617571,1,SULT2B1,[HSST2],sulfotransferase family 2B member 1,gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,604125,ENSG00000088002,,O00204,O00204,HGNC:11459 +GARD:0016472,Orphanet+OMIM,617796,OMIM:617796,1,ASH1L,"[ASH1, ASH1L1, KMT2H, huASH1]",ASH1 like histone lysine methyltransferase,gene with protein product,1q22,The molecular basis of the disorder is known,Unknown,,607999,ENSG00000116539,objectId:2648,Q9NR48,Q9NR48,HGNC:19088 +GARD:0016473,Orphanet+OMIM,617798,OMIM:617798,1,CAMK2A,"[CaM kinase II alpha subunit, CaM-kinase II alpha chain, CaMK-II alpha subunit, CaMKIINalpha, CaMKIIα, KIAA0968, calcium/calmodulin-dependent protein kinase II alpha-B subunit, calcium/calmodulin-dependent protein kinase type II alpha chain]",calcium/calmodulin dependent protein kinase II alpha,gene with protein product,5q32,The molecular basis of the disorder is known,Unknown,,114078,ENSG00000070808,objectId:1555,Q9UQM7,Q9UQM7,HGNC:1460 +GARD:0016474,Orphanet+OMIM,617799,OMIM:617799,1,CAMK2B,"[CAM2, CAMK2, CaM kinase II beta subunit, CaM-kinase II beta chain, CaMKIIβ, calcium/calmodulin-dependent protein kinase type II beta chain, proline rich calmodulin-dependent protein kinase]",calcium/calmodulin dependent protein kinase II beta,gene with protein product,7p13,The molecular basis of the disorder is known,Unknown,,607707,ENSG00000058404,objectId:1556,Q13554,Q13554,HGNC:1461 +GARD:0016475,Orphanet+OMIM,618095,OMIM:618095,1,CAMK2A,"[CaM kinase II alpha subunit, CaM-kinase II alpha chain, CaMK-II alpha subunit, CaMKIINalpha, CaMKIIα, KIAA0968, calcium/calmodulin-dependent protein kinase II alpha-B subunit, calcium/calmodulin-dependent protein kinase type II alpha chain]",calcium/calmodulin dependent protein kinase II alpha,gene with protein product,5q32,The molecular basis of the disorder is known,Unknown,,114078,ENSG00000070808,objectId:1555,Q9UQM7,Q9UQM7,HGNC:1460 +GARD:0016476,Orphanet+OMIM,618106,OMIM:618106,1,SET,"[2PP2A, HLA-DR-associated protein II, IGAAD, IPP2A2, PHAPII, TAF-I, TAF-IBETA, Template-Activating Factor-I, chromatin remodelling factor, inhibitor of granzyme A-activated DNase, protein phosphatase type 2A inhibitor]",SET nuclear proto-oncogene,gene with protein product,9q34.11,The molecular basis of the disorder is known,Unknown,,600960,ENSG00000119335,,Q01105,Q01105,HGNC:10760 +GARD:0016477,Orphanet+OMIM,618330,OMIM:618330,1,CUX1,"[CASP, CDP, CDP/Cut, CDP/Cux, CDP1, CUT, CUX, CUX1 gene Alternatively Spliced Product, Clox, Cux/CDP, GOLIM6, golgi integral membrane protein 6]",cut like homeobox 1,gene with protein product,7q22.1,The molecular basis of the disorder is known,Unknown,,116896,ENSG00000257923,,"P39880, Q13948",,HGNC:2557 +GARD:0016478,Orphanet+OMIM,619188,OMIM:619188,1,ZNF292,"[KIAA0530, ZFP292, Zn-15, Zn-16, bA393I2.3]",zinc finger protein 292,gene with protein product,6q14.3,The molecular basis of the disorder is known,Unknown,,616213,ENSG00000188994,,O60281,,HGNC:18410 +GARD:0016479,Orphanet,663,ORPHA:663,4,MT-TN,[trnN],mitochondrially encoded tRNA-Asn (AAU/C),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:23696415],590010,ENSG00000210135,,,,HGNC:7493 +GARD:0016479,Orphanet,663,ORPHA:663,4,MT-TL1,[TRNL1],mitochondrially encoded tRNA-Leu (UUA/G) 1,Non-coding RNA,mitochondria,Candidate gene tested in,Not yet assessed,,590050,ENSG00000209082,,,,HGNC:7490 +GARD:0016479,Orphanet,663,ORPHA:663,4,MT-TS1,[TRNS1],mitochondrially encoded tRNA-Ser (UCN) 1,Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:23696415],590080,ENSG00000210151,,,,HGNC:7497 +GARD:0016479,Orphanet,663,ORPHA:663,4,MT-TL2,[TRNL2],mitochondrially encoded tRNA-Leu (CUN) 2,Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:23696415],590055,ENSG00000210191,,,,HGNC:7491 +GARD:0016480,Orphanet,59181,ORPHA:59181,1,TIMP3,,TIMP metallopeptidase inhibitor 3,gene with protein product,22q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:7894485],188826,ENSG00000100234,,P35625,P35625,HGNC:11822 +GARD:0016481,Orphanet,280183,ORPHA:280183,1,CD320,"[8D6, 8D6 antigen, 8D6A]",CD320 molecule,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20524213],606475,ENSG00000167775,,Q9NPF0,Q9NPF0,HGNC:16692 +GARD:0016482,Orphanet,91483,ORPHA:91483,2,FOXC1,"[ARA, FREAC3, IGDA, IHG1]",forkhead box C1,gene with protein product,6p25.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:11170889, PMID:9620769]",601090,ENSG00000054598,,Q12948,Q12948,HGNC:3800 +GARD:0016482,Orphanet,91483,ORPHA:91483,2,PITX2,"[ARP1, Brx1, IGDS, Otlx2, RS]",paired like homeodomain 2,gene with protein product,4q25,Disease-causing germline mutation(s) in,Assessed,"[PMID:19513095, PMID:24433355]",601542,ENSG00000164093,,Q99697,Q99697,HGNC:9005 +GARD:0016483,Orphanet+OMIM,618641,OMIM:618641,1,RINT1,"[FLJ11785, RINT-1]",RAD50 interactor 1,gene with protein product,7q22.3,The molecular basis of the disorder is known,Unknown,,610089,ENSG00000135249,,Q6NUQ1,Q6NUQ1,HGNC:21876 +GARD:0016485,Orphanet,98978,ORPHA:98978,2,FOXC1,"[ARA, FREAC3, IGDA, IHG1]",forkhead box C1,gene with protein product,6p25.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:11170889, PMID:9620769]",601090,ENSG00000054598,,Q12948,Q12948,HGNC:3800 +GARD:0016485,Orphanet,98978,ORPHA:98978,2,PITX2,"[ARP1, Brx1, IGDS, Otlx2, RS]",paired like homeodomain 2,gene with protein product,4q25,Disease-causing germline mutation(s) in,Assessed,"[PMID:19513095, PMID:24433355]",601542,ENSG00000164093,,Q99697,Q99697,HGNC:9005 +GARD:0016486,Orphanet,254892,ORPHA:254892,5,POLG2,"[HP55, MTPOLB]","DNA polymerase gamma 2, accessory subunit",gene with protein product,17q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21555342],604983,ENSG00000256525,,Q9UHN1,Q9UHN1,HGNC:9180 +GARD:0016486,Orphanet,254892,ORPHA:254892,5,RRM2B,[p53R2],ribonucleotide reductase regulatory TP53 inducible subunit M2B,gene with protein product,8q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19664747, PMID:21646632]",604712,ENSG00000048392,2754,Q7LG56,Q7LG56,HGNC:17296 +GARD:0016486,Orphanet,254892,ORPHA:254892,5,POLG,"[POLG1, POLGA]","DNA polymerase gamma, catalytic subunit",gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:11431686, PMID:20301791]",174763,ENSG00000140521,,P54098,P54098,HGNC:9179 +GARD:0016486,Orphanet,254892,ORPHA:254892,5,SLC25A4,[T1],solute carrier family 25 member 4,gene with protein product,4q35.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:10926541, PMID:21519523]",103220,ENSG00000151729,1062,P12235,P12235,HGNC:10990 +GARD:0016486,Orphanet,254892,ORPHA:254892,5,TWNK,"[FLJ21832, PEO, PEO1, T7 helicase-related protein with intramitochondrial nucleoid localization, TWINKLE, TWINL]",twinkle mtDNA helicase,gene with protein product,10q24.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:11431692, PMID:21519523]",606075,ENSG00000107815,,Q96RR1,Q96RR1,HGNC:1160 +GARD:0016487,Orphanet,329931,ORPHA:329931,4,CFHR5,"[FHR-5, FHR5, Factor H related protein 5, factor H related protein 5]",complement factor H related 5,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20800271, PMID:22503529, PMID:23026947]",608593,ENSG00000134389,,Q9BXR6,Q9BXR6,HGNC:24668 +GARD:0016487,Orphanet,329931,ORPHA:329931,4,CFHR2,[FHR2],complement factor H related 2,gene with protein product,1q31.3,Part of a fusion gene in,Assessed,[PMID:31980588],600889,ENSG00000080910,,P36980,P36980,HGNC:4890 +GARD:0016487,Orphanet,329931,ORPHA:329931,4,CFHR1,"[CFHL, FHR1, H36-1, H36-2]",complement factor H related 1,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23728178],134371,ENSG00000244414,,Q03591,Q03591,HGNC:4888 +GARD:0016487,Orphanet,329931,ORPHA:329931,4,CFHR3,"[DOWN16, FHR-3, FHR3, HLF4]",complement factor H related 3,gene with protein product,1q31.3,Part of a fusion gene in,Assessed,[PMID:22626820],605336,ENSG00000116785,,Q02985,Q02985,HGNC:16980 +GARD:0016489,Orphanet,280133,ORPHA:280133,1,C3,"[ARMD9, C3a, C3a anaphylatoxin, C3b, CPAMD1, complement component C3a, complement component C3b, prepro-C3]",complement C3,gene with protein product,19p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:15781264],120700,ENSG00000125730,,P01024,P01024,HGNC:1318 +GARD:0016491,Orphanet+OMIM,100070,OMIM:100070,1,AAA1,[AAA],"Aortic aneurysm, familial abdominal 1",unknown,19q13,The disease phenotype itself was mapped,Unknown,,100070,,,,,GeneID:100329167 +GARD:0016492,Orphanet+OMIM,609782,OMIM:609782,1,AAA2,,"Aortic aneurysm, familial abdominal 2",unknown,4q31,The disease phenotype itself was mapped,Unknown,,609782,,,,,GeneID:100505390 +GARD:0016493,Orphanet+OMIM,611891,OMIM:611891,1,AAA3,,"Aneurysm, familial abdominal 3",unknown,9p21,The disease phenotype itself was mapped,Unknown,,611891,,,,,GeneID:100188857 +GARD:0016494,Orphanet+OMIM,614375,OMIM:614375,1,AAA4,,"Aortic aneurysm, familial abdominal, 4",unknown,12q13.3,The disease phenotype itself was mapped,Unknown,,614375,,,,,GeneID:100859927 +GARD:0016495,Orphanet+OMIM,618388,OMIM:618388,1,RAPSN,"[CMS1D, CMS1E, RNF205, rapsyn]",receptor associated protein of the synapse,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,601592,ENSG00000165917,,Q13702,,HGNC:9863 +GARD:0016496,Orphanet+OMIM,618389,OMIM:618389,1,DOK7,"[Dok-7, FLJ33718, FLJ39137]",docking protein 7,gene with protein product,4p16.3,The molecular basis of the disorder is known,Unknown,,610285,ENSG00000175920,,Q18PE1,,HGNC:26594 +GARD:0016497,Orphanet+OMIM,618393,OMIM:618393,1,NUP88,[MGC8530],nucleoporin 88,gene with protein product,17p13.2,The molecular basis of the disorder is known,Unknown,,602552,ENSG00000108559,,Q99567,Q99567,HGNC:8067 +GARD:0016498,Orphanet+OMIM,609283,OMIM:609283,1,SLC25A4,"[AAC1, ADP/ATP carrier 1, ADP/ATP translocase 1, T1]",solute carrier family 25 member 4,gene with protein product,4q35.1,The molecular basis of the disorder is known,Unknown,,103220,ENSG00000151729,objectId:1062,P12235,P12235,HGNC:10990 +GARD:0016499,Orphanet+OMIM,609286,OMIM:609286,1,TWNK,"[FLJ21832, PEO, PEO1, T7 helicase-related protein with intramitochondrial nucleoid localization, TWINKLE, TWINL]",twinkle mtDNA helicase,gene with protein product,10q24.31,The molecular basis of the disorder is known,Unknown,,606075,ENSG00000107815,,Q96RR1,Q96RR1,HGNC:1160 +GARD:0016500,Orphanet+OMIM,610131,OMIM:610131,1,POLG2,"[HP55, MTPOLB]","DNA polymerase gamma 2, accessory subunit",gene with protein product,17q23.3,The molecular basis of the disorder is known,Unknown,,604983,ENSG00000256525,,Q9UHN1,Q9UHN1,HGNC:9180 +GARD:0016501,Orphanet+OMIM,613077,OMIM:613077,1,RRM2B,[p53R2],ribonucleotide reductase regulatory TP53 inducible subunit M2B,gene with protein product,8q22.3,The molecular basis of the disorder is known,Unknown,,604712,ENSG00000048392,objectId:2754,Q7LG56,Q7LG56,HGNC:17296 +GARD:0016502,Orphanet+OMIM,166780,OMIM:166780,1,EYA1,,EYA transcriptional coactivator and phosphatase 1,gene with protein product,8q13.3,The molecular basis of the disorder is known,Unknown,,601653,ENSG00000104313,,Q99502,Q99502,HGNC:3519 +GARD:0016503,Orphanet+OMIM,615560,OMIM:615560,1,PAX1,,paired box 1,gene with protein product,20p11.22,The molecular basis of the disorder is known,Unknown,,167411,ENSG00000125813,,P15863,,HGNC:8615 +GARD:0016504,Orphanet+OMIM,605751,OMIM:605751,1,PRRT2,"[DKFZp547J199, DSPB3, EKD1, FICCA, FLJ25513, IFITMD1, PKC, dispanin subfamily B member 3, interferon induced transmembrane protein domain containing 1]",proline rich transmembrane protein 2,gene with protein product,16p11.2,The molecular basis of the disorder is known,Unknown,,614386,ENSG00000167371,,Q7Z6L0,,HGNC:30500 +GARD:0016505,Orphanet+OMIM,612627,OMIM:612627,1,BFIS4,[BFIC4],"Seizures, benign familial infantile, 4",unknown,1p36.12-p35.1,The disease phenotype itself was mapped,Unknown,,612627,,,,,GeneID:100271922 +GARD:0016506,Orphanet+OMIM,617080,OMIM:617080,1,SCN8A,"[CIAT, CerIII, NaCh6, Nav1.6, PN4]",sodium voltage-gated channel alpha subunit 8,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,600702,ENSG00000196876,objectId:583,Q9UQD0,Q9UQD0,HGNC:10596 +GARD:0016507,Orphanet+OMIM,602096,OMIM:602096,1,AD5,,"Alzheimer disease, familial, type 5",unknown,12p11.23-q13.12,The disease phenotype itself was mapped,Unknown,,602096,,,,,GeneID:8081 +GARD:0016509,Orphanet+OMIM,605526,OMIM:605526,1,AD6,,Alzheimer disease 6,unknown,10q24,The disease phenotype itself was mapped,Unknown,,605526,,,,,GeneID:64851 +GARD:0016510,Orphanet+OMIM,606187,OMIM:606187,1,AD7,,Alzheimer disease 7,unknown,10p13,The disease phenotype itself was mapped,Unknown,,606187,,,,,GeneID:114475 +GARD:0016511,Orphanet+OMIM,606889,OMIM:606889,1,PSEN2,"[AD3L, Alzheimer disease 3-like, E5-1, PS-2, PS2, STM2]",presenilin 2,gene with protein product,1q42.13,The molecular basis of the disorder is known,Unknown,,600759,ENSG00000143801,objectId:2403,P49810,P49810,HGNC:9509 +GARD:0016512,Orphanet+OMIM,607116,OMIM:607116,1,AD8,,Alzheimer disease 8,unknown,20p,The disease phenotype itself was mapped,Unknown,,607116,,,,,GeneID:353128 +GARD:0016513,Orphanet+OMIM,607822,OMIM:607822,2,PSEN1,"[FAD, PS-1, PS1, PSNL1, S182, familial Alzheimer Disease]",presenilin 1,gene with protein product,14q24.2,The molecular basis of the disorder is known,Unknown,,104311,ENSG00000080815,objectId:2402,P49768,P49768,HGNC:9508 +GARD:0016513,Orphanet+OMIM,607822,OMIM:607822,2,APOE,,apolipoprotein E,gene with protein product,19q13.32,The molecular basis of the disorder is known,Unknown,,107741,ENSG00000130203,,P02649,P02649,HGNC:613 +GARD:0016514,Orphanet+OMIM,609636,OMIM:609636,1,AD10,,Alzheimer disease-10,unknown,7q36,The disease phenotype itself was mapped,Unknown,,609636,,,,,GeneID:780912 +GARD:0016515,Orphanet+OMIM,609790,OMIM:609790,1,AD11,,Alzheimer disease 11,unknown,9p22.1,The disease phenotype itself was mapped,Unknown,,609790,,,,,GeneID:100188795 +GARD:0016516,Orphanet+OMIM,611073,OMIM:611073,1,AD12,,Alzheimer disease 12,unknown,8p12-q22,The disease phenotype itself was mapped,Unknown,,611073,,,,,GeneID:100188830 +GARD:0016517,Orphanet+OMIM,611152,OMIM:611152,1,AD13,,Alzheimer disease-13,unknown,1q21,The disease phenotype itself was mapped,Unknown,,611152,,,,,GeneID:100188837 +GARD:0016518,Orphanet+OMIM,611154,OMIM:611154,1,AD14,,Alzheimer disease 14,unknown,1q25,The disease phenotype itself was mapped,Unknown,,611154,,,,,GeneID:100188754 +GARD:0016519,Orphanet+OMIM,182230,OMIM:182230,1,HESX1,"[ANF, RPX]",HESX homeobox 1,gene with protein product,3p14.3,The molecular basis of the disorder is known,Unknown,,601802,ENSG00000163666,,Q9UBX0,,HGNC:4877 +GARD:0016520,Orphanet+OMIM,613986,OMIM:613986,1,OTX2,,orthodenticle homeobox 2,gene with protein product,14q22.3,The molecular basis of the disorder is known,Unknown,,600037,ENSG00000165588,,P32243,,HGNC:8522 +GARD:0016521,Orphanet+OMIM,607745,OMIM:607745,1,SCN2A,"[HBSCI, HBSCII, Nav1.2]",sodium voltage-gated channel alpha subunit 2,gene with protein product,2q24.3,The molecular basis of the disorder is known,Unknown,,182390,ENSG00000136531,objectId:579,Q99250,Q99250,HGNC:10588 +GARD:0016528,Orphanet,317,ORPHA:317,4,GJB3,"[CX31, connexin 31]",gap junction protein beta 3,gene with protein product,1p34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21564177],603324,ENSG00000188910,720,O75712,O75712,HGNC:4285 +GARD:0016528,Orphanet,317,ORPHA:317,4,KDSR,"[3-dehydrosphinganine reductase, DHSR, SDR35C1, short chain dehydrogenase/reductase family 35C, member 1]",3-ketodihydrosphingosine reductase,gene with protein product,18q21.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28575652],136440,ENSG00000119537,2463,Q06136,R-HSA-428134,HGNC:4021 +GARD:0016528,Orphanet,317,ORPHA:317,4,GJA1,"[CX43, ODD, ODOD, SDTY3, connexin 43, oculodentodigital dysplasia (syndactyly type III)]",gap junction protein alpha 1,gene with protein product,6q22.31,Disease-causing germline mutation(s) in,Assessed,[PMID:25398053],121014,ENSG00000152661,728,P17302,P17302,HGNC:4274 +GARD:0016528,Orphanet,317,ORPHA:317,4,GJB4,"[CX30.3, connexin 30.3]",gap junction protein beta 4,gene with protein product,1p34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23037955],605425,ENSG00000189433,719,Q9NTQ9,Q9NTQ9,HGNC:4286 +GARD:0016533,Orphanet,432,ORPHA:432,17,WDR11,"[DR11, FLJ10506, HH14, KIAA1351, SRI1, WDR15, sensitization to ricin complex subunit 1]",WD repeat domain 11,gene with protein product,10q26.12,Disease-causing germline mutation(s) in,Assessed,[PMID:20887964],606417,ENSG00000120008,,Q9BZH6,,HGNC:13831 +GARD:0016533,Orphanet,432,ORPHA:432,17,CHD7,"[FLJ20357, FLJ20361, KIAA1416]",chromodomain helicase DNA binding protein 7,gene with protein product,8q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18834967],608892,ENSG00000171316,,Q9P2D1,,HGNC:20626 +GARD:0016533,Orphanet,432,ORPHA:432,17,HS6ST1,,heparan sulfate 6-O-sulfotransferase 1,gene with protein product,2q14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21700882],604846,ENSG00000136720,,O60243,O60243,HGNC:5201 +GARD:0016533,Orphanet,432,ORPHA:432,17,TAC3,"[LncZBTB39, LncZBTB39-1:2, NK3, NKB, ZNEUROK1, preprotachykinin-B]",tachykinin precursor 3,gene with protein product,12q13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19079066],162330,ENSG00000166863,,Q9UHF0,Q9UHF0,HGNC:11521 +GARD:0016533,Orphanet,432,ORPHA:432,17,FGF8,"[AIGF, androgen-induced growth factor]",fibroblast growth factor 8,gene with protein product,10q24.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:18596921, PMID:20463092]",600483,ENSG00000107831,,P55075,P55075,HGNC:3686 +GARD:0016533,Orphanet,432,ORPHA:432,17,GNRHR,[LHRHR],gonadotropin releasing hormone receptor,gene with protein product,4q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22918878],138850,ENSG00000109163,256,P30968,P30968,HGNC:4421 +GARD:0016533,Orphanet,432,ORPHA:432,17,GNRH1,[progonadoliberin-1],gonadotropin releasing hormone 1,gene with protein product,8p21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20389089, PMID:20887715]",152760,ENSG00000147437,,P01148,P01148,HGNC:4419 +GARD:0016533,Orphanet,432,ORPHA:432,17,NSMF,,NMDA receptor synaptonuclear signaling and neuronal migration factor,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,,608137,ENSG00000165802,,Q6X4W1,,HGNC:29843 +GARD:0016533,Orphanet,432,ORPHA:432,17,TACR3,"[NK3, NK3 receptor, NK3R, NKR, TAC3R, neurokinin B receptor, neurokinin beta receptor, neuromedin-K receptor]",tachykinin receptor 3,gene with protein product,4q24,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19079066],162332,ENSG00000169836,362,P29371,P29371,HGNC:11528 +GARD:0016533,Orphanet,432,ORPHA:432,17,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17235395],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0016533,Orphanet,432,ORPHA:432,17,KISS1R,"[AXOR12, HOT7T175]",KISS1 receptor,gene with protein product,19p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21193544],604161,ENSG00000116014,266,Q969F8,Q969F8,HGNC:4510 +GARD:0016533,Orphanet,432,ORPHA:432,17,SPRY4,,sprouty RTK signaling antagonist 4,gene with protein product,5q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23643382],607984,ENSG00000187678,,Q9C004,Q9C004,HGNC:15533 +GARD:0016533,Orphanet,432,ORPHA:432,17,PROKR2,"[GPR73b, GPRg2, PKR2, dJ680N4.3]",prokineticin receptor 2,gene with protein product,20p12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18682503],607123,ENSG00000101292,336,Q8NFJ6,Q8NFJ6,HGNC:15836 +GARD:0016533,Orphanet,432,ORPHA:432,17,PROK2,"[BV8, KAL4, MIT1, PK2, protein Bv8 homolog]",prokineticin 2,gene with protein product,3p13,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:17959774, PMID:18682503]",607002,ENSG00000163421,,Q9HC23,Q9HC23,HGNC:18455 +GARD:0016533,Orphanet,432,ORPHA:432,17,KISS1,"[kisspeptin, prepro-kisspeptin]",KiSS-1 metastasis suppressor,gene with protein product,1q32.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22335740],603286,ENSG00000170498,,Q15726,Q15726,HGNC:6341 +GARD:0016533,Orphanet,432,ORPHA:432,17,FGF17,[FGF-13],fibroblast growth factor 17,gene with protein product,8p21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23643382],603725,ENSG00000158815,,O60258,O60258,HGNC:3673 +GARD:0016533,Orphanet,432,ORPHA:432,17,DUSP6,"[MKP-3, PYST1]",dual specificity phosphatase 6,gene with protein product,12q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23643382],602748,ENSG00000139318,,Q16828,Q16828,HGNC:3072 +GARD:0016538,Orphanet,632,ORPHA:632,2,ELF4,"[ELFR, MEF]",E74 like ETS transcription factor 4,gene with protein product,Xq26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18180883],300775,ENSG00000102034,,Q99607,,HGNC:3319 +GARD:0016538,Orphanet,632,ORPHA:632,2,BTK,"[ATK, Bruton's tyrosine kinase, PSCTK1, XLA]",Bruton tyrosine kinase,gene with protein product,Xq22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:22139958, PMID:8013627, PMID:9554752]",300300,ENSG00000010671,1948,Q06187,Q06187,HGNC:1133 +GARD:0016541,Orphanet,712,ORPHA:712,1,GPI,"[AMF, NLK]",glucose-6-phosphate isomerase,gene with protein product,19q13.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:22782259, PMID:9446754]",172400,ENSG00000105220,,P06744,P06744,HGNC:4458 +GARD:0016543,Orphanet,743,ORPHA:743,1,PROS1,,protein S,gene with protein product,3q11.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17849042, PMID:19466456]",176880,ENSG00000184500,,P07225,P07225,HGNC:9456 +GARD:0016544,Orphanet,745,ORPHA:745,1,PROC,[prepro-protein C],"protein C, inactivator of coagulation factors Va and VIIIa",gene with protein product,2q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23521084],612283,ENSG00000115718,2396,P04070,P04070,HGNC:9451 +GARD:0016548,Orphanet,785,ORPHA:785,1,ESR1,"[E2 receptor alpha, ER-alpha, Era, NR3A1, estrogen receptor alpha, nuclear receptor subfamily 3 group A member 1, oestrogen receptor alpha]",estrogen receptor 1,gene with protein product,6q25.1-q25.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23841731, PMID:8090165]",133430,ENSG00000091831,620,P03372,P03372,HGNC:3467 +GARD:0016551,Orphanet,959,ORPHA:959,1,SALL4,"[ZNF797, dJ1112F19.1]",spalt like transcription factor 4,gene with protein product,20q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:16086360, PMID:20301547]",607343,ENSG00000101115,,Q9UJQ4,Q9UJQ4,HGNC:15924 +GARD:0016552,Orphanet,983,ORPHA:983,1,DHX37,"[Dhr1, KIAA1517, MGC2695, MGC4322]",DEAH-box helicase 37,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:31287541],617362,ENSG00000150990,,Q8IY37,Q8IY37,HGNC:17210 +GARD:0016556,Orphanet,1147,ORPHA:1147,5,NALCN,"[CanIon, bA430M15.1]","sodium leak channel, non-selective",gene with protein product,13q32.3-q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25683120],611549,ENSG00000102452,750,Q8IZF0,Q8IZF0,HGNC:19082 +GARD:0016556,Orphanet,1147,ORPHA:1147,5,TPM2,"[DA1, NEM4, nemaline myopathy type 4]",tropomyosin 2,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23401156],190990,ENSG00000198467,,P07951,P07951,HGNC:12011 +GARD:0016556,Orphanet,1147,ORPHA:1147,5,TNNI2,"[DA2B, FSSV, troponin I fast twitch 2, troponin I, fast-twitch skeletal muscle isoform]","troponin I2, fast skeletal type",gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:23401156],191043,ENSG00000130598,,P48788,P48788,HGNC:11946 +GARD:0016556,Orphanet,1147,ORPHA:1147,5,TNNT3,"[AMCD2B, DA2B, DKFZp779M2348, FSSV, troponin-T3, skeletal, fast]","troponin T3, fast skeletal type",gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:23401156],600692,ENSG00000130595,,P45378,P45378,HGNC:11950 +GARD:0016556,Orphanet,1147,ORPHA:1147,5,MYH3,"[HEMHC, MYHC-EMB, MYHSE1, SMHCE, muscle embryonic myosin heavy chain 3, myosin, skeletal, heavy chain, embryonic 1]",myosin heavy chain 3,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:16642020, PMID:23401156]",160720,ENSG00000109063,,P11055,P11055,HGNC:7573 +GARD:0016558,Orphanet,1175,ORPHA:1175,1,GJB1,"[CX32, Charcot-Marie-Tooth neuropathy, X-linked, connexin 32]",gap junction protein beta 1,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23773993],304040,ENSG00000169562,723,P08034,P08034,HGNC:4283 +GARD:0016561,Orphanet,1194,ORPHA:1194,1,TMEM70,[FLJ20533],transmembrane protein 70,gene with protein product,8q21.11,Disease-causing germline mutation(s) in,Assessed,[PMID:21147908],612418,ENSG00000175606,,Q9BUB7,,HGNC:26050 +GARD:0016564,Orphanet,1344,ORPHA:1344,2,NPPA,,natriuretic peptide A,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,[PMID:23275345],108780,ENSG00000175206,,P01160,P01160,HGNC:7939 +GARD:0016564,Orphanet,1344,ORPHA:1344,2,SCN5A,"[CDCD2, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, long QT syndrome 3]",sodium voltage-gated channel alpha subunit 5,gene with protein product,3p22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:12522116],600163,ENSG00000183873,582,Q14524,Q14524,HGNC:10593 +GARD:0016565,Orphanet,1422,ORPHA:1422,1,HHAT,"[FLJ10724, GUP2, MART-2, MART2, Skn, protein-cysteine N-palmitoyltransferase HHAT, rasp, sit, ski]",hedgehog acyltransferase,gene with protein product,1q32.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24784881],605743,ENSG00000054392,,Q5VTY9,Q5VTY9,HGNC:18270 +GARD:0016566,Orphanet,1479,ORPHA:1479,1,NKX2-5,"[CSX1, NKX2.5, NKX4-1, tinman (Drosophila) homolog, tinman paralog (Drosophila)]",NK2 homeobox 5,gene with protein product,5q34,Disease-causing germline mutation(s) in,Assessed,"[PMID:18375255, PMID:19049681]",600584,ENSG00000183072,,P52952,P52952,HGNC:2488 +GARD:0016568,Orphanet,1507,ORPHA:1507,2,ROR2,,receptor tyrosine kinase like orphan receptor 2,gene with protein product,9q22.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301418],602337,ENSG00000169071,1846,Q01974,Q01974,HGNC:10257 +GARD:0016568,Orphanet,1507,ORPHA:1507,2,NXN,"[FLJ12614, NRX]",nucleoredoxin,gene with protein product,17p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29276006],612895,ENSG00000167693,,Q6DKJ4,,HGNC:18008 +GARD:0016569,Orphanet,1561,ORPHA:1561,5,SCO2,[SCO1L],synthesis of cytochrome C oxidase 2,gene with protein product,22q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:10545952],604272,ENSG00000284194,,O43819,O43819,HGNC:10604 +GARD:0016569,Orphanet,1561,ORPHA:1561,5,SCO1,,synthesis of cytochrome C oxidase 1,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:11013136, PMID:19295170, PMID:23878101]",603644,ENSG00000133028,,O75880,O75880,HGNC:10603 +GARD:0016569,Orphanet,1561,ORPHA:1561,5,COA5,"[FLJ27524, MGC52110, Pet191]",cytochrome c oxidase assembly factor 5,gene with protein product,2q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21457908],613920,ENSG00000183513,,Q86WW8,,HGNC:33848 +GARD:0016569,Orphanet,1561,ORPHA:1561,5,COX15,[CEMCOX2],cytochrome c oxidase assembly homolog COX15,gene with protein product,10q24.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21412973, PMID:2175025]",603646,ENSG00000014919,,Q7KZN9,Q7KZN9,HGNC:2263 +GARD:0016569,Orphanet,1561,ORPHA:1561,5,COA6,,cytochrome c oxidase assembly factor 6,gene with protein product,1q42.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:24549041, PMID:25339201]",614772,ENSG00000168275,,Q5JTJ3,Q5JTJ3,HGNC:18025 +GARD:0016570,Orphanet,1587,ORPHA:1587,1,RB1,"[PPP1R130, RB, prepro-retinoblastoma-associated protein, protein phosphatase 1, regulatory subunit 130]",RB transcriptional corepressor 1,gene with protein product,13q14.2,Role in the phenotype of,Assessed,[PMID:21505449],614041,ENSG00000139687,,P06400,P06400,HGNC:9884 +GARD:0016572,Orphanet,1596,ORPHA:1596,1,MCTP2,"[FLJ11175, FLJ33303]",multiple C2 and transmembrane domain containing 2,gene with protein product,15q26.2,Role in the phenotype of,Assessed,[PMID:23773997],616297,ENSG00000140563,,Q6DN12,,HGNC:25636 +GARD:0016574,Orphanet,1646,ORPHA:1646,8,TSPY1,"[CT78, cancer/testis antigen 78]",testis specific protein Y-linked 1,gene with protein product,Yp11.2,Modifying germline mutation in,Assessed,[PMID:23307928],480100,ENSG00000258992,,Q01534,Q01534,HGNC:12381 +GARD:0016574,Orphanet,1646,ORPHA:1646,8,USP9Y,"[AZFA, DFFRY, azoospermia factor A, fat facets-like homolog (Drosophila)]",ubiquitin specific peptidase 9 Y-linked,gene with protein product,Yq11.221,Role in the phenotype of,Assessed,"[PMID:10581029, PMID:20301513, PMID:20671934, PMID:22537385]",400005,ENSG00000114374,,O00507,,HGNC:12633 +GARD:0016574,Orphanet,1646,ORPHA:1646,8,DAZ2,"[MGC126442, pDP1678]",deleted in azoospermia 2,gene with protein product,Yq11.223,Candidate gene tested in,Not yet assessed,"[PMID:11870237, PMID:20671934]",400026,ENSG00000205944,,Q13117,,HGNC:15964 +GARD:0016574,Orphanet,1646,ORPHA:1646,8,DDX3Y,,DEAD-box helicase 3 Y-linked,gene with protein product,Yq11.221,Candidate gene tested in,Not yet assessed,"[PMID:10767340, PMID:20301513, PMID:20671934, PMID:22537385]",400010,ENSG00000067048,,O15523,,HGNC:2699 +GARD:0016574,Orphanet,1646,ORPHA:1646,8,DAZ4,,deleted in azoospermia 4,gene with protein product,Yq11.23,Candidate gene tested in,Not yet assessed,"[PMID:14639527, PMID:20671934]",400048,ENSG00000205916,,Q86SG3,,HGNC:15966 +GARD:0016574,Orphanet,1646,ORPHA:1646,8,RBMY1A1,"[YRRM1, YRRM2]",RNA binding motif protein Y-linked family 1 member A1,gene with protein product,Yq11.223,Candidate gene tested in,Not yet assessed,"[PMID:12525536, PMID:20671934]",400006,ENSG00000234414,,P0DJD3,P0DJD3,HGNC:9912 +GARD:0016574,Orphanet,1646,ORPHA:1646,8,DAZ1,[SPGY],deleted in azoospermia 1,gene with protein product,Yq11.223,Candidate gene tested in,Not yet assessed,"[PMID:11870237, PMID:20671934]",400003,ENSG00000188120,,Q9NQZ3,,HGNC:2682 +GARD:0016574,Orphanet,1646,ORPHA:1646,8,DAZ3,,deleted in azoospermia 3,gene with protein product,Yq11.23,Candidate gene tested in,Not yet assessed,"[PMID:14639527, PMID:20671934]",400027,ENSG00000187191,,Q9NR90,,HGNC:15965 +GARD:0016579,Orphanet,1848,ORPHA:1848,6,ITGA8,,integrin subunit alpha 8,gene with protein product,10p13,Disease-causing germline mutation(s) in,Assessed,[PMID:24439109],604063,ENSG00000077943,2447,P53708,P53708,HGNC:6144 +GARD:0016579,Orphanet,1848,ORPHA:1848,6,RET,"[CDHF12, CDHR16, PTC, RET receptor tyrosine kinase, RET51, cadherin-related family member 16, rearranged during transfection]",ret proto-oncogene,gene with protein product,10q11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18252215],164761,ENSG00000165731,2185,P07949,P07949,HGNC:9967 +GARD:0016579,Orphanet,1848,ORPHA:1848,6,WNT9B,,Wnt family member 9B,gene with protein product,17q21.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:34145744],602864,ENSG00000158955,,O14905,,HGNC:12779 +GARD:0016579,Orphanet,1848,ORPHA:1848,6,GFRA1,,GDNF family receptor alpha 1,gene with protein product,10q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:34737117],,,,,,HGNC:4243 +GARD:0016579,Orphanet,1848,ORPHA:1848,6,FGF20,,fibroblast growth factor 20,gene with protein product,8p22,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22698282],605558,ENSG00000078579,,Q9NP95,Q9NP95,HGNC:3677 +GARD:0016579,Orphanet,1848,ORPHA:1848,6,GREB1L,"[C18orf6, FLJ13687]",GREB1 like retinoic acid receptor coactivator,gene with protein product,18q11.1-q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:29100090, PMID:29100091]",617782,ENSG00000141449,,Q9C091,,HGNC:31042 +GARD:0016581,Orphanet,1935,ORPHA:1935,2,SIK1,"[msk, myocardial SNF1-like kinase]",salt inducible kinase 1,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25839329],605705,ENSG00000142178,2197,P57059,P57059,HGNC:11142 +GARD:0016581,Orphanet,1935,ORPHA:1935,2,SLC25A22,"[EIEE3, FLJ13044, GC1, NET44]",solute carrier family 25 member 22,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:15592994],609302,ENSG00000177542,1058,Q9H936,Q9H936,HGNC:19954 +GARD:0016582,Orphanet,2024,ORPHA:2024,3,GINGF2,"[GGF2, HGF2]","gingival fibromatosis, hereditary, 2",Disorder-associated locus,5q13-q22,Candidate gene tested in,Not yet assessed,[PMID:11386754],,,,,,HGNC:14252 +GARD:0016582,Orphanet,2024,ORPHA:2024,3,SOS1,"[GF1, HGF]",SOS Ras/Rac guanine nucleotide exchange factor 1,gene with protein product,2p22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:11868160],182530,ENSG00000115904,3096,Q07889,Q07889,HGNC:11187 +GARD:0016582,Orphanet,2024,ORPHA:2024,3,REST,"[NRSF, XBR, neuron-restrictive silencer factor]",RE1 silencing transcription factor,gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,[PMID:28686854],600571,ENSG00000084093,,Q13127,Q13127,HGNC:9966 +GARD:0016583,Orphanet,2028,ORPHA:2028,1,ANTXR2,"[CMG-2, CMG2, FLJ31074, capillary morphogenesis protein 2]",ANTXR cell adhesion molecule 2,gene with protein product,4q21.21,Disease-causing germline mutation(s) in,Assessed,[PMID:14508707],608041,ENSG00000163297,,P58335,P58335,HGNC:21732 +GARD:0016585,Orphanet,2138,ORPHA:2138,3,NR5A1,"[AD4BP, ELP, FTZ1, SF-1, SF1, hSF-1, steroidogenic factor 1]",nuclear receptor subfamily 5 group A member 1,gene with protein product,9q33.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27490115],184757,ENSG00000136931,632,Q13285,Q13285,HGNC:7983 +GARD:0016585,Orphanet,2138,ORPHA:2138,3,SOX9,[SRA1],SRY-box transcription factor 9,gene with protein product,17q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22051515],608160,ENSG00000125398,,P48436,P48436,HGNC:11204 +GARD:0016585,Orphanet,2138,ORPHA:2138,3,SRY,"[TDF, testis-determining factor]",sex determining region Y,gene with protein product,Yp11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:11912443, PMID:1740318]",480000,ENSG00000184895,,Q05066,Q05066,HGNC:11311 +GARD:0016587,Orphanet,2197,ORPHA:2197,1,ADCY10,"[HCA2, Hypercalciuria, absorptive, 2, RP1-313L4.2, SAC, SACI, Sacy, soluble adenylyl cyclase]",adenylate cyclase 10,gene with protein product,1q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:11932268],605205,ENSG00000143199,3068,Q96PN6,Q96PN6,HGNC:21285 +GARD:0016589,Orphanet,2239,ORPHA:2239,1,GCM2,[hGCMb],glial cells missing transcription factor 2,gene with protein product,6p24.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:11602629],603716,ENSG00000124827,,O75603,O75603,HGNC:4198 +GARD:0016590,Orphanet,2250,ORPHA:2250,1,SMCHD1,"[FSHD2, KIAA0650]",structural maintenance of chromosomes flexible hinge domain containing 1,gene with protein product,18p11.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:28067909, PMID:28067911]",614982,ENSG00000101596,,A6NHR9,,HGNC:29090 +GARD:0016592,Orphanet,2301,ORPHA:2301,2,CLMP,"[ACAM, ASAM, Adipocyte adhesion molecule, Adipocyte-specific adhesion molecule, Coxsackie- and adenovirus receptor-like membrane protein, FLJ22415, adipocyte adhesion molecule, adipocyte-specific adhesion molecule, coxsackie- and adenovirus receptor-like membrane protein]",CXADR like membrane protein,gene with protein product,11q24.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22155368],611693,ENSG00000166250,,Q9H6B4,,HGNC:24039 +GARD:0016592,Orphanet,2301,ORPHA:2301,2,FLNA,"[ABP-280, actin binding protein 280, alpha filamin]",filamin A,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:23037936],300017,ENSG00000196924,,P21333,P21333,HGNC:3754 +GARD:0016600,Orphanet,2451,ORPHA:2451,1,TEK,"[CD202b, TIE-2, TIE2, VMCM1, angiopoietin-1 receptor]",TEK receptor tyrosine kinase,gene with protein product,9p21.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301733],600221,ENSG00000120156,1842,Q02763,Q02763,HGNC:11724 +GARD:0016603,Orphanet,2518,ORPHA:2518,3,TUBGCP6,"[DJ402G11.6, GCP6, Gamma-tubulin complex component 6, KIAA1669, gamma-tubulin complex component 6]",tubulin gamma complex associated protein 6,gene with protein product,22q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:22279524],610053,ENSG00000128159,,Q96RT7,Q96RT7,HGNC:18127 +GARD:0016603,Orphanet,2518,ORPHA:2518,3,TUBGCP4,"[76P, FLJ14797]",tubulin gamma complex associated protein 4,gene with protein product,15q15.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25817018],609610,ENSG00000137822,,Q9UGJ1,Q9UGJ1,HGNC:16691 +GARD:0016603,Orphanet,2518,ORPHA:2518,3,PLK4,[Sak],polo like kinase 4,gene with protein product,4q28.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27650967],605031,ENSG00000142731,2171,O00444,O00444,HGNC:11397 +GARD:0016604,Orphanet,2680,ORPHA:2680,3,CNTNAP1,"[CNTNAP, Caspr, neurexin 4, p190]",contactin associated protein 1,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24319099],602346,ENSG00000108797,,P78357,P78357,HGNC:8011 +GARD:0016604,Orphanet,2680,ORPHA:2680,3,ADCY6,[AC6],adenylate cyclase 6,gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:24319099],600294,ENSG00000174233,1283,O43306,O43306,HGNC:237 +GARD:0016604,Orphanet,2680,ORPHA:2680,3,LGI4,,leucine rich repeat LGI family member 4,gene with protein product,19q13.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28318499],608303,ENSG00000153902,,Q8N135,Q8N135,HGNC:18712 +GARD:0016610,Orphanet,2828,ORPHA:2828,11,PRKN,"[AR-JP, E3 ubiquitin ligase, PARK2, PDJ, parkin]",parkin RBR E3 ubiquitin protein ligase,gene with protein product,6q26,Disease-causing germline mutation(s) in,Assessed,[PMID:22166458],602544,ENSG00000185345,,O60260,O60260,HGNC:8607 +GARD:0016610,Orphanet,2828,ORPHA:2828,11,PINK1,[BRPK],PTEN induced kinase 1,gene with protein product,1p36.12,Disease-causing germline mutation(s) in,Assessed,[PMID:22166458],608309,ENSG00000158828,2161,Q9BXM7,Q9BXM7,HGNC:14581 +GARD:0016610,Orphanet,2828,ORPHA:2828,11,PODXL,"[Gp200, PC, PCLP, PDX, PODXL1, gp135]",podocalyxin like,gene with protein product,7q32.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26864383],602632,ENSG00000128567,,O00592,O00592,HGNC:9171 +GARD:0016610,Orphanet,2828,ORPHA:2828,11,HTRA2,"[OMI, PARK13]",HtrA serine peptidase 2,gene with protein product,2p13.1,Candidate gene tested in,Not yet assessed,[PMID:21701785],606441,ENSG00000115317,,O43464,O43464,HGNC:14348 +GARD:0016610,Orphanet,2828,ORPHA:2828,11,LRRK2,"[DKFZp434H2111, FLJ45829, RIPK7, ROCO2, dardarin]",leucine rich repeat kinase 2,gene with protein product,12q12,Candidate gene tested in,Not yet assessed,[PMID:22166458],609007,ENSG00000188906,2059,Q5S007,Q5S007,HGNC:18618 +GARD:0016610,Orphanet,2828,ORPHA:2828,11,UCHL1,"[PGP9.5, Uch-L1, ubiquitin thiolesterase]",ubiquitin C-terminal hydrolase L1,gene with protein product,4p13,Candidate gene tested in,Not yet assessed,,191342,ENSG00000154277,2426,P09936,P09936,HGNC:12513 +GARD:0016610,Orphanet,2828,ORPHA:2828,11,PARK7,"[DJ-1, DJ1, GATD2]",Parkinsonism associated deglycase,gene with protein product,1p36.23,Disease-causing germline mutation(s) in,Assessed,[PMID:22166458],602533,ENSG00000116288,,Q99497,Q99497,HGNC:16369 +GARD:0016610,Orphanet,2828,ORPHA:2828,11,SNCA,"[α-synuclein, NACP, PD1, a-synuclein, alpha-synuclein, non A4 component of amyloid precursor]",synuclein alpha,gene with protein product,4q22.1,Candidate gene tested in,Not yet assessed,"[PMID:17489854, PMID:18704525, PMID:20013014, PMID:24768741]",163890,ENSG00000145335,,P37840,P37840,HGNC:11138 +GARD:0016610,Orphanet,2828,ORPHA:2828,11,SYNJ1,"[INPP5G, PARK20, inositol polyphosphate-5-phosphatase G, phosphoinositide 5-phosphatase, synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1]",synaptojanin 1,gene with protein product,21q22.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:23804563, PMID:23804577]",604297,ENSG00000159082,1461,O43426,O43426,HGNC:11503 +GARD:0016610,Orphanet,2828,ORPHA:2828,11,DNAJC6,"[KIAA0473, PARK19, auxilin]",DnaJ heat shock protein family (Hsp40) member C6,gene with protein product,1p31.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26528954],608375,ENSG00000116675,,O75061,O75061,HGNC:15469 +GARD:0016610,Orphanet,2828,ORPHA:2828,11,VPS13C,"[FLJ10381, FLJ20136, KIAA1421]",vacuolar protein sorting 13 homolog C,gene with protein product,15q22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26942284],608879,ENSG00000129003,,Q709C8,,HGNC:23594 +GARD:0016613,Orphanet,2880,ORPHA:2880,2,PCK2,"[PEPCK, PEPCK2]","phosphoenolpyruvate carboxykinase 2, mitochondrial",gene with protein product,14q11.2-q12,Disease-causing germline mutation(s) in,Assessed,[PMID:2044592],614095,ENSG00000100889,,Q16822,Q16822,HGNC:8725 +GARD:0016613,Orphanet,2880,ORPHA:2880,2,PCK1,[PEPCK-C],phosphoenolpyruvate carboxykinase 1,gene with protein product,20q13.31,Disease-causing germline mutation(s) in,Assessed,,614168,ENSG00000124253,,P35558,P35558,HGNC:8724 +GARD:0016618,Orphanet,3047,ORPHA:3047,1,KAT6B,"[MOZ-related factor, MOZ2, Morf, ZC2HC6B, qkf, querkopf]",lysine acetyltransferase 6B,gene with protein product,10q22.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22715153, PMID:23236640]",605880,ENSG00000156650,2666,Q8WYB5,Q8WYB5,HGNC:17582 +GARD:0016620,Orphanet,3107,ORPHA:3107,4,WNT5A,"[WNT-5A protein, hWNT5A]",Wnt family member 5A,gene with protein product,3p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19918918],164975,ENSG00000114251,,P41221,P41221,HGNC:12784 +GARD:0016620,Orphanet,3107,ORPHA:3107,4,DVL3,[KIAA0208],dishevelled segment polarity protein 3,gene with protein product,3q27.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26924530],601368,ENSG00000161202,,Q92997,Q92997,HGNC:3087 +GARD:0016620,Orphanet,3107,ORPHA:3107,4,DVL1,,dishevelled segment polarity protein 1,gene with protein product,1p36.33,Disease-causing germline mutation(s) in,Assessed,[PMID:25817016],601365,ENSG00000107404,,O14640,O14640,HGNC:3084 +GARD:0016620,Orphanet,3107,ORPHA:3107,4,FZD2,,frizzled class receptor 2,gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:29276006],600667,ENSG00000180340,230,Q14332,Q14332,HGNC:4040 +GARD:0016622,Orphanet,3175,ORPHA:3175,1,ARX,"[CT121, EIEE1, ISSX, cancer/testis antigen 121]",aristaless related homeobox,gene with protein product,Xp21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12177367],300382,ENSG00000004848,,Q96QS3,,HGNC:18060 +GARD:0016626,Orphanet,3366,ORPHA:3366,2,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:11173846],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0016626,Orphanet,3366,ORPHA:3366,2,FREM1,"[C9orf143, C9orf145, DKFZp686M16108, FLJ25461, TILRR]",FRAS1 related extracellular matrix 1,gene with protein product,9p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21931569],608944,ENSG00000164946,,Q5H8C1,,HGNC:23399 +GARD:0016627,Orphanet,3384,ORPHA:3384,2,PLXND1,[KIAA0620],plexin D1,gene with protein product,3q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24254849],604282,ENSG00000004399,,Q9Y4D7,Q9Y4D7,HGNC:9107 +GARD:0016627,Orphanet,3384,ORPHA:3384,2,NKX2-6,"[CSX2, NKX4-2, tinman (Drosophila) homolog, tinman paralog (Drosophila)]",NK2 homeobox 6,gene with protein product,8p21.2,Major susceptibility factor in,Assessed,"[PMID:15649947, PMID:25195019]",611770,ENSG00000180053,,A6NCS4,,HGNC:32940 +GARD:0016629,Orphanet,30925,ORPHA:30925,1,AVP,"[ADH, antidiuretic hormone, copeptin, diabetes insipidus, neurohypophyseal, neurophysin II, prepro-AVP-NP II, prepro-arginine-vasopressin-neurophysin II]",arginine vasopressin,gene with protein product,20p13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:14673472],192340,ENSG00000101200,,P01185,P01185,HGNC:894 +GARD:0016630,Orphanet,33445,ORPHA:33445,1,MYO5A,"[GS1, MYO5, MYR12, myosin V, myosin heavy chain 12, myosin, heavy polypeptide kinase, myoxin]",myosin VA,gene with protein product,15q21.2,Disease-causing germline mutation(s) in,Assessed,,160777,ENSG00000197535,,Q9Y4I1,Q9Y4I1,HGNC:7602 +GARD:0016631,Orphanet,33574,ORPHA:33574,1,GCLC,[GCS],glutamate-cysteine ligase catalytic subunit,gene with protein product,6p12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:10515893, PMID:18024385]",606857,ENSG00000001084,,P48506,P48506,HGNC:4311 +GARD:0016632,Orphanet,35078,ORPHA:35078,1,JAK3,"[JAK-3, JAK3_HUMAN, JAKL, L-JAK, LJAK, leukocyte Janus kinase, tyrosine-protein kinase JAK3]",Janus kinase 3,gene with protein product,19p13.11,Disease-causing germline mutation(s) in,Assessed,,600173,ENSG00000105639,2049,P52333,P52333,HGNC:6193 +GARD:0016633,Orphanet,35093,ORPHA:35093,3,ERF,"[PE-2, PE2]",ETS2 repressor factor,gene with protein product,19q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23354439],611888,ENSG00000105722,,P50548,P50548,HGNC:3444 +GARD:0016633,Orphanet,35093,ORPHA:35093,3,TWIST1,"[BPES2, CRS1, H-twist, SCS, Saethre-Chotzen syndrome, bHLHa38]",twist family bHLH transcription factor 1,gene with protein product,7p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17343269],601622,ENSG00000122691,,Q15672,Q15672,HGNC:12428 +GARD:0016633,Orphanet,35093,ORPHA:35093,3,ALX4,"[FPP, KIAA1788, PFM]",ALX homeobox 4,gene with protein product,11p11.2,Major susceptibility factor in,Assessed,[PMID:22829454],605420,ENSG00000052850,,Q9H161,,HGNC:450 +GARD:0016634,Orphanet,35099,ORPHA:35099,4,TCF12,"[HEB, HTF4, Helix-loop-helix transcription factor 4, HsT17266, bHLHb20, helix-loop-helix transcription factor 4, p64]",transcription factor 12,gene with protein product,15q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23354436],600480,ENSG00000140262,,Q99081,Q99081,HGNC:11623 +GARD:0016634,Orphanet,35099,ORPHA:35099,4,FGFR3,"[CD333, CEK2, JTK4]",fibroblast growth factor receptor 3,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:10914960],134934,ENSG00000068078,1810,P22607,P22607,HGNC:3690 +GARD:0016634,Orphanet,35099,ORPHA:35099,4,TWIST1,"[BPES2, CRS1, H-twist, SCS, Saethre-Chotzen syndrome, bHLHa38]",twist family bHLH transcription factor 1,gene with protein product,7p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17343269],601622,ENSG00000122691,,Q15672,Q15672,HGNC:12428 +GARD:0016634,Orphanet,35099,ORPHA:35099,4,ZIC1,"[ZIC, ZNF201]",Zic family member 1,gene with protein product,3q24,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26340333],600470,ENSG00000152977,,Q15915,Q15915,HGNC:12872 +GARD:0016635,Orphanet,35120,ORPHA:35120,1,NT5C3A,"[P5'N-1, PN-I, POMP, PSN1, UMPH, UMPH1, cN-III, hUMP1, lupin, p36]","5'-nucleotidase, cytosolic IIIA",gene with protein product,7p14.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:11369620, PMID:12714505]",606224,ENSG00000122643,1237,Q9H0P0,Q9H0P0,HGNC:17820 +GARD:0016637,Orphanet,35612,ORPHA:35612,10,OTX2,,orthodenticle homeobox 2,gene with protein product,14q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24033328],600037,ENSG00000165588,,P32243,,HGNC:8522 +GARD:0016637,Orphanet,35612,ORPHA:35612,10,CRB1,[LCA8],crumbs cell polarity complex component 1,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19375515],604210,ENSG00000134376,,P82279,P82279,HGNC:2343 +GARD:0016637,Orphanet,35612,ORPHA:35612,10,SOX2,,SRY-box transcription factor 2,gene with protein product,3q26.33,Disease-causing germline mutation(s) in,Assessed,[PMID:24033328],184429,ENSG00000181449,,P48431,P48431,HGNC:11195 +GARD:0016637,Orphanet,35612,ORPHA:35612,10,SIX6,[Six9],SIX homeobox 6,gene with protein product,14q23.1,Candidate gene tested in,Not yet assessed,,606326,ENSG00000184302,,O95475,,HGNC:10892 +GARD:0016637,Orphanet,35612,ORPHA:35612,10,BEST1,"[BEST, BMD, Best disease, RP50]",bestrophin 1,gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19375515],607854,ENSG00000167995,,O76090,O76090,HGNC:12703 +GARD:0016637,Orphanet,35612,ORPHA:35612,10,RAX,[RX],retina and anterior neural fold homeobox,gene with protein product,18q21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:24033328],601881,ENSG00000134438,,Q9Y2V3,,HGNC:18662 +GARD:0016637,Orphanet,35612,ORPHA:35612,10,PRSS56,,serine protease 56,gene with protein product,2q37.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21850159],613858,ENSG00000237412,,P0CW18,,HGNC:39433 +GARD:0016637,Orphanet,35612,ORPHA:35612,10,ALDH1A3,"[RALDH3, Retinaldehyde dehydrogenase 3, retinaldehyde dehydrogenase 3]",aldehyde dehydrogenase 1 family member A3,gene with protein product,15q26.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23312594],600463,ENSG00000184254,,P47895,P47895,HGNC:409 +GARD:0016637,Orphanet,35612,ORPHA:35612,10,TMEM98,[DKFZP564K1964],transmembrane protein 98,gene with protein product,17q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24852644],615949,ENSG00000006042,,Q9Y2Y6,,HGNC:24529 +GARD:0016637,Orphanet,35612,ORPHA:35612,10,MFRP,"[C1QTNF5, C1q and TNF related 5, FLJ30570, NNO2, membrane-type frizzled-related protein, rd6]",membrane frizzled-related protein,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:15976030],606227,ENSG00000235718,,Q9BY79,,HGNC:18121 +GARD:0016638,Orphanet,35664,ORPHA:35664,1,ALDH18A1,"[P5CS, delta-1-pyrroline-5-carboxylate synthase]",aldehyde dehydrogenase 18 family member A1,gene with protein product,10q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21739576],138250,ENSG00000059573,,P54886,P54886,HGNC:9722 +GARD:0016639,Orphanet,35909,ORPHA:35909,2,LMAN1,"[ERGIC-53, ERGIC53, FMFD1, MCFD1, MR60, endoplasmic reticulum-golgi intermediate compartment protein 53, gp58]","lectin, mannose binding 1",gene with protein product,18q21.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:16304051, PMID:9546392]",601567,ENSG00000074695,,P49257,P49257,HGNC:6631 +GARD:0016639,Orphanet,35909,ORPHA:35909,2,MCFD2,"[F5F8D, LMAN1IP, SDNSF]","multiple coagulation factor deficiency 2, ER cargo receptor complex subunit",gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,"[PMID:12717434, PMID:16304051]",607788,ENSG00000180398,,Q8NI22,Q8NI22,HGNC:18451 +GARD:0016640,Orphanet,36367,ORPHA:36367,1,ZBTB18,"[C2H2-171, RP58, TAZ-1]",zinc finger and BTB domain containing 18,gene with protein product,1q44,Role in the phenotype of,Assessed,"[PMID:24193349, PMID:28283832]",608433,ENSG00000179456,,Q99592,,HGNC:13030 +GARD:0016641,Orphanet,37612,ORPHA:37612,1,KCNA1,"[HUK1, Kv1.1, MBK1, RBK1]",potassium voltage-gated channel subfamily A member 1,gene with protein product,12p13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301785],176260,ENSG00000111262,538,Q09470,Q09470,HGNC:6218 +GARD:0016643,Orphanet,43115,ORPHA:43115,1,ISCU,"[ISU2, IscU, hnifU]",iron-sulfur cluster assembly enzyme,gene with protein product,12q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301757],611911,ENSG00000136003,,Q9H1K1,Q9H1K1,HGNC:29882 +GARD:0016645,Orphanet,48431,ORPHA:48431,1,CTDP1,[FCP1],CTD phosphatase subunit 1,gene with protein product,18q23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301787],604927,ENSG00000060069,,Q9Y5B0,Q9Y5B0,HGNC:2498 +GARD:0016647,Orphanet,50814,ORPHA:50814,1,SEC23A,,"SEC23 homolog A, COPII coat complex component",gene with protein product,14q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:16980979],610511,ENSG00000100934,,Q15436,Q15436,HGNC:10701 +GARD:0016649,Orphanet,50944,ORPHA:50944,1,WNT10A,,Wnt family member 10A,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:19559398],606268,ENSG00000135925,,Q9GZT5,Q9GZT5,HGNC:13829 +GARD:0016650,Orphanet,51083,ORPHA:51083,5,SLC4A3,"[AE3, Anion exchanger 3, neuronal, SLC2C]",solute carrier family 4 member 3,gene with protein product,2q35,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29167417],106195,ENSG00000114923,906,P48751,P48751,HGNC:11029 +GARD:0016650,Orphanet,51083,ORPHA:51083,5,KCNQ1,"[JLNS1, Jervell and Lange-Nielsen syndrome 1, KCNA8, KVLQT1, Kv7.1, LQT1]",potassium voltage-gated channel subfamily Q member 1,gene with protein product,11p15.5-p15.4,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:15159330, PMID:26346102]",607542,ENSG00000053918,560,P51787,P51787,HGNC:6294 +GARD:0016650,Orphanet,51083,ORPHA:51083,5,KCNH2,"[HERG, Kv11.1, erg1, human ether-a-go-go-related gene, long QT syndrome type 2]",potassium voltage-gated channel subfamily H member 2,gene with protein product,7q36.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:15828882],152427,ENSG00000055118,572,Q12809,Q12809,HGNC:6251 +GARD:0016650,Orphanet,51083,ORPHA:51083,5,CACNA2D1,[lncRNA-N3],calcium voltage-gated channel auxiliary subunit alpha2delta 1,gene with protein product,7q21.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21383000],114204,ENSG00000153956,,P54289,P54289,HGNC:1399 +GARD:0016650,Orphanet,51083,ORPHA:51083,5,KCNJ2,"[IRK1, Kir2.1, LQT7]",potassium inwardly rectifying channel subfamily J member 2,gene with protein product,17q24.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:15761194],600681,ENSG00000123700,430,P63252,P63252,HGNC:6263 +GARD:0016655,Orphanet,52427,ORPHA:52427,4,PRPH2,"[CACD2, TSPAN22, rd2, retinal peripherin]",peripherin 2,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:8485575],179605,ENSG00000112619,,P23942,,HGNC:9942 +GARD:0016655,Orphanet,52427,ORPHA:52427,4,RLBP1,[CRALBP],retinaldehyde binding protein 1,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:10102299, PMID:15234312, PMID:15953459]",180090,ENSG00000140522,2545,P12271,P12271,HGNC:10024 +GARD:0016655,Orphanet,52427,ORPHA:52427,4,RDH5,"[HSD17B9, SDR9C5, short chain dehydrogenase/reductase family 9C, member 5]",retinol dehydrogenase 5,gene with protein product,12q13.2,Candidate gene tested in,Not yet assessed,,601617,ENSG00000135437,,Q92781,Q92781,HGNC:9940 +GARD:0016655,Orphanet,52427,ORPHA:52427,4,RHO,"[CSNBAD1, OPN2, opsin 2, rod pigment]",rhodopsin,gene with protein product,3q22.1,Candidate gene tested in,Not yet assessed,[PMID:8554077],180380,ENSG00000163914,2963,P08100,P08100,HGNC:10012 +GARD:0016656,Orphanet,53583,ORPHA:53583,1,SLC2A1,"[DYT18, DYT9]",solute carrier family 2 member 1,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21832227],138140,ENSG00000117394,875,P11166,P11166,HGNC:11005 +GARD:0016657,Orphanet,53691,ORPHA:53691,1,KERA,"[SLRR2B, keratocan proteoglycan]",keratocan,gene with protein product,12q21.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:10802664],603288,ENSG00000139330,,O60938,O60938,HGNC:6309 +GARD:0016658,Orphanet,53696,ORPHA:53696,1,GLE1,[hGLE1],GLE1 RNA export mediator,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,[PMID:18204449],603371,ENSG00000119392,,Q53GS7,Q53GS7,HGNC:4315 +GARD:0016662,Orphanet,60015,ORPHA:60015,2,MSX2,"[CRS2, FPP, HOX8, MSH, PFM, craniosynostosis, type 2]",msh homeobox 2,gene with protein product,5q35.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:16319823],123101,ENSG00000120149,,P35548,P35548,HGNC:7392 +GARD:0016662,Orphanet,60015,ORPHA:60015,2,ALX4,"[FPP, KIAA1788, PFM]",ALX homeobox 4,gene with protein product,11p11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:16319823],605420,ENSG00000052850,,Q9H161,,HGNC:450 +GARD:0016664,Orphanet,60033,ORPHA:60033,4,SCNN1B,"[ENaCbeta, Liddle syndrome, amiloride-sensitive sodium channel subunit beta]",sodium channel epithelial 1 subunit beta,gene with protein product,16p12.2-p12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18507830, PMID:21658649]",600760,ENSG00000168447,739,P51168,P51168,HGNC:10600 +GARD:0016664,Orphanet,60033,ORPHA:60033,4,SCNN1A,"[ENaCalpha, amiloride-sensitive sodium channel subunit alpha]",sodium channel epithelial 1 subunit alpha,gene with protein product,12p13,Disease-causing germline mutation(s) in,Assessed,[PMID:19462466],600228,ENSG00000111319,738,P37088,P37088,HGNC:10599 +GARD:0016664,Orphanet,60033,ORPHA:60033,4,CFTR,"[ABC35, ATP-binding cassette sub-family C, member 7, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1]",CF transmembrane conductance regulator,gene with protein product,7q31.2,Candidate gene tested in,Not yet assessed,"[PMID:23781395, PMID:25797027]",602421,ENSG00000001626,707,P13569,P13569,HGNC:1884 +GARD:0016664,Orphanet,60033,ORPHA:60033,4,SCNN1G,"[ENaCgamma, SCNEG, amiloride-sensitive sodium channel subunit gamma]",sodium channel epithelial 1 subunit gamma,gene with protein product,16p12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:18507830, PMID:21658649]",600761,ENSG00000166828,741,P51170,P51170,HGNC:10602 +GARD:0016665,Orphanet,63269,ORPHA:63269,1,POR,"[CYPOR, FLJ26468, NADPH--hemoprotein reductase]",cytochrome p450 oxidoreductase,gene with protein product,7q11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:15483095],124015,ENSG00000127948,,P16435,P16435,HGNC:9208 +GARD:0016666,Orphanet,63273,ORPHA:63273,1,FLNC,"[ABP-280, ABPL, actin binding protein 280, gamma filamin]",filamin C,gene with protein product,7q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21620354],102565,ENSG00000128591,,Q14315,Q14315,HGNC:3756 +GARD:0016667,Orphanet,64280,ORPHA:64280,6,CACNA1H,[Cav3.2],calcium voltage-gated channel subunit alpha1 H,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12891677],607904,ENSG00000196557,536,O95180,O95180,HGNC:1395 +GARD:0016667,Orphanet,64280,ORPHA:64280,6,GABRB3,"[GABA(A) receptor, beta 3]",gamma-aminobutyric acid type A receptor subunit beta3,gene with protein product,15q12,Disease-causing germline mutation(s) in,Assessed,[PMID:18514161],137192,ENSG00000166206,412,P28472,P28472,HGNC:4083 +GARD:0016667,Orphanet,64280,ORPHA:64280,6,JRK,"[JH8, jerky]",Jrk helix-turn-helix protein,gene with protein product,8q24.3,Candidate gene tested in,Not yet assessed,[PMID:11463517],603210,ENSG00000234616,,O75564,O75564,HGNC:6199 +GARD:0016667,Orphanet,64280,ORPHA:64280,6,GABRG2,"[GABA(A) receptor, gamma 2]",gamma-aminobutyric acid type A receptor subunit gamma2,gene with protein product,5q34,Candidate gene tested in,Not yet assessed,,137164,ENSG00000113327,414,P18507,P18507,HGNC:4087 +GARD:0016667,Orphanet,64280,ORPHA:64280,6,SLC2A1,"[DYT18, DYT9]",solute carrier family 2 member 1,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:19798636, PMID:23280796]",138140,ENSG00000117394,875,P11166,P11166,HGNC:11005 +GARD:0016667,Orphanet,64280,ORPHA:64280,6,GABRA1,"[EJM5, GABA(A) receptor, alpha 1]",gamma-aminobutyric acid type A receptor subunit alpha1,gene with protein product,5q34,Candidate gene tested in,Not yet assessed,[PMID:16718694],137160,ENSG00000022355,404,P14867,P14867,HGNC:4075 +GARD:0016668,Orphanet,64739,ORPHA:64739,1,FSHR,"[FSHRO, LGR1]",follicle stimulating hormone receptor,gene with protein product,2p16.3,Major susceptibility factor in,Assessed,"[PMID:18248882, PMID:19573286]",136435,ENSG00000170820,253,P23945,P23945,HGNC:3969 +GARD:0016669,Orphanet,65287,ORPHA:65287,1,UPB1,[BUP1],beta-ureidopropionase 1,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:15385443],606673,ENSG00000100024,,Q9UBR1,Q9UBR1,HGNC:16297 +GARD:0016670,Orphanet,65288,ORPHA:65288,1,PTF1A,"[PTF1-p48, bHLHa29, p48]",pancreas associated transcription factor 1a,gene with protein product,10p12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15543146, PMID:20301317]",607194,ENSG00000168267,,Q7RTS3,Q7RTS3,HGNC:23734 +GARD:0016674,Orphanet,66637,ORPHA:66637,1,BMPER,"[CRIM3, Cv2, crossveinless-2]",BMP binding endothelial regulator,gene with protein product,7p14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20869035, PMID:21990102]",608699,ENSG00000164619,,Q8N8U9,,HGNC:24154 +GARD:0016675,Orphanet,67041,ORPHA:67041,1,HYAL1,"[FUS2, HYAL-1, LUCA1, NAT6]",hyaluronidase 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:10339581],607071,ENSG00000114378,,Q12794,Q12794,HGNC:5320 +GARD:0016676,Orphanet,67044,ORPHA:67044,1,GATA1,"[ERYF1, GATA-1, NF-E1, NFE1, nuclear factor, erythroid 1]",GATA binding protein 1,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,,305371,ENSG00000102145,,P15976,P15976,HGNC:4170 +GARD:0016677,Orphanet,67045,ORPHA:67045,1,SOX3,,SRY-box transcription factor 3,gene with protein product,Xq27.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:12428212, PMID:22139958]",313430,ENSG00000134595,,P41225,P41225,HGNC:11199 +GARD:0016680,Orphanet,69084,ORPHA:69084,3,KRT85,"[Hb-5, hard keratin type II]",keratin 85,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:16525032],602767,ENSG00000135443,,P78386,P78386,HGNC:6462 +GARD:0016680,Orphanet,69084,ORPHA:69084,3,HOXC13,,homeobox C13,gene with protein product,12q13.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23063621],142976,ENSG00000123364,,P31276,P31276,HGNC:5125 +GARD:0016680,Orphanet,69084,ORPHA:69084,3,KRT74,"[K6IRS4, KRT5C, KRT6IRS4]",keratin 74,gene with protein product,12q13.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24714551],608248,ENSG00000170484,,Q7RTS7,Q7RTS7,HGNC:28929 +GARD:0016681,Orphanet,69088,ORPHA:69088,1,IKBKG,"[FIP-3, FIP3, Fip3p, IKK-gamma, NEMO, ZC2HC9]",inhibitor of nuclear factor kappa B kinase regulatory subunit gamma,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,,300248,ENSG00000269335,,Q9Y6K9,Q9Y6K9,HGNC:5961 +GARD:0016683,Orphanet,69663,ORPHA:69663,1,ABCB4,"[GBD1, MDR2, PFIC-3]",ATP binding cassette subfamily B member 4,gene with protein product,7q21.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17562004],171060,ENSG00000005471,771,P21439,P21439,HGNC:45 +GARD:0016684,Orphanet,69737,ORPHA:69737,1,HOXA1,,homeobox A1,gene with protein product,7p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17875913],142955,ENSG00000105991,,P49639,P49639,HGNC:5099 +GARD:0016685,Orphanet,70474,ORPHA:70474,5,SURF1,"[SHY1, surfeit locus protein 1]",SURF1 cytochrome c oxidase assembly factor,gene with protein product,9q34.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23829769],185620,ENSG00000148290,,Q15526,Q15526,HGNC:11474 +GARD:0016685,Orphanet,70474,ORPHA:70474,5,NDUFAF3,"[2P1, DKFZP564J0123, E3-3, MGC10527]",NADH:ubiquinone oxidoreductase complex assembly factor 3,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:27986404],612911,ENSG00000178057,,Q9BU61,Q9BU61,HGNC:29918 +GARD:0016685,Orphanet,70474,ORPHA:70474,5,NDUFS2,"[CI-49, NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial, complex I 49kDa subunit]",NADH:ubiquinone oxidoreductase core subunit S2,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22036843],602985,ENSG00000158864,,O75306,O75306,HGNC:7708 +GARD:0016685,Orphanet,70474,ORPHA:70474,5,SCO2,[SCO1L],synthesis of cytochrome C oxidase 2,gene with protein product,22q13.33,Candidate gene tested in,Not yet assessed,[PMID:25720770],604272,ENSG00000284194,,O43819,O43819,HGNC:10604 +GARD:0016685,Orphanet,70474,ORPHA:70474,5,NDUFB8,"[ASHI, CI-ASHI, complex I ASHI subunit]",NADH:ubiquinone oxidoreductase subunit B8,gene with protein product,10q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:29429571],602140,ENSG00000166136,,O95169,O95169,HGNC:7703 +GARD:0016686,Orphanet,71271,ORPHA:71271,1,DLX5,,distal-less homeobox 5,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22121204],600028,ENSG00000105880,,P56178,,HGNC:2918 +GARD:0016687,Orphanet,71289,ORPHA:71289,2,MECOM,"[KMT8E, MDS1-EVI1, PR domain 3, PRDM3]",MDS1 and EVI1 complex locus,gene with protein product,3q26.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26581901],165215,ENSG00000085276,,Q03112,Q03112,HGNC:3498 +GARD:0016687,Orphanet,71289,ORPHA:71289,2,HOXA11,,homeobox A11,gene with protein product,7p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:11101832],142958,ENSG00000005073,,P31270,,HGNC:5101 +GARD:0016688,Orphanet,71493,ORPHA:71493,3,MPL,"[CD110, THPOR, TPOR]","MPL proto-oncogene, thrombopoietin receptor",gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,,159530,ENSG00000117400,1722,P40238,P40238,HGNC:7217 +GARD:0016688,Orphanet,71493,ORPHA:71493,3,THPO,"[MPL ligand, MPLLG, TPO, c-mpl ligand, megakaryocyte colony-stimulating factor, megakaryocyte growth and development factor, megakaryocyte stimulating factor, myeloproliferative leukemia virus oncogene ligand, prepro-thrombopoietin]",thrombopoietin,gene with protein product,3q27.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,,600044,ENSG00000090534,,P40225,P40225,HGNC:11795 +GARD:0016688,Orphanet,71493,ORPHA:71493,3,JAK2,[JTK10],Janus kinase 2,gene with protein product,9p24.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:22397670],147796,ENSG00000096968,2048,O60674,O60674,HGNC:6192 +GARD:0016689,Orphanet,71528,ORPHA:71528,1,PCSK1,"[PC1, PC3, SPC3, neuroendocrine convertase 1, prohormone convertase 1, prohormone convertase 3, proprotein convertase 1]",proprotein convertase subtilisin/kexin type 1,gene with protein product,5q15,Disease-causing germline mutation(s) in,Assessed,"[PMID:17595246, PMID:9207799]",162150,ENSG00000175426,2382,P29120,P29120,HGNC:8743 +GARD:0016690,Orphanet,71529,ORPHA:71529,1,MC4R,,melanocortin 4 receptor,gene with protein product,18q21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:10903343],155541,ENSG00000166603,285,P32245,P32245,HGNC:6932 +GARD:0016692,Orphanet,75249,ORPHA:75249,5,TNNT2,[CMPD2],"troponin T2, cardiac type",gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16651346],191045,ENSG00000118194,,P45379,P45379,HGNC:11949 +GARD:0016692,Orphanet,75249,ORPHA:75249,5,FLNC,"[ABP-280, ABPL, actin binding protein 280, gamma filamin]",filamin C,gene with protein product,7q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26666891],102565,ENSG00000128591,,Q14315,Q14315,HGNC:3756 +GARD:0016692,Orphanet,75249,ORPHA:75249,5,KIF20A,,kinesin family member 20A,gene with protein product,5q31.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29357359],605664,ENSG00000112984,,O95235,O95235,HGNC:9787 +GARD:0016692,Orphanet,75249,ORPHA:75249,5,TNNI3,"[CMH7, TNNC1]","troponin I3, cardiac type",gene with protein product,19q13.42,Disease-causing germline mutation(s) in,Assessed,[PMID:12531876],191044,ENSG00000129991,,P19429,P19429,HGNC:11947 +GARD:0016692,Orphanet,75249,ORPHA:75249,5,MYPN,"['sarcomeric protein myopalladin, 145 kDa', MYOP, Sarcomeric protein myopalladin, 145 kDa]",myopalladin,gene with protein product,10q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22286171],608517,ENSG00000138347,,Q86TC9,,HGNC:23246 +GARD:0016693,Orphanet,75326,ORPHA:75326,1,COL4A1,,collagen type IV alpha 1 chain,gene with protein product,13q34,Disease-causing germline mutation(s) in,Assessed,[PMID:25228067],120130,ENSG00000187498,,P02462,P02462,HGNC:2202 +GARD:0016695,Orphanet,75391,ORPHA:75391,1,MCM4,"[CDC54, DNA replication licensing factor MCM4, MGC33310, P1-Cdc21, hCdc21]",minichromosome maintenance complex component 4,gene with protein product,8q11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:22354170, PMID:22405088]",602638,ENSG00000104738,,P33991,P33991,HGNC:6947 +GARD:0016696,Orphanet,79076,ORPHA:79076,2,BMPR1A,"[ALK3, CD292]",bone morphogenetic protein receptor type 1A,gene with protein product,10q23.2,Role in the phenotype of,Assessed,"[PMID:16685657, PMID:22993021, PMID:23331837]",601299,ENSG00000107779,1786,P36894,P36894,HGNC:1076 +GARD:0016696,Orphanet,79076,ORPHA:79076,2,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Role in the phenotype of,Assessed,"[PMID:16685657, PMID:22993021, PMID:23331837]",601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0016697,Orphanet,79094,ORPHA:79094,1,YY1AP1,"[HCCA2, YAP, YY1AP]",YY1 associated protein 1,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:27939641],607860,ENSG00000163374,,Q9H869,Q9H869,HGNC:30935 +GARD:0016698,Orphanet,79106,ORPHA:79106,1,PTH1R,,parathyroid hormone 1 receptor,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:15525660],168468,ENSG00000160801,331,Q03431,Q03431,HGNC:9608 +GARD:0016699,Orphanet,79118,ORPHA:79118,1,GLIS3,"[Gli-similar 3, MGC33662]",GLIS family zinc finger 3,gene with protein product,9p24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:16715098],610192,ENSG00000107249,,Q8NEA6,,HGNC:28510 +GARD:0016701,Orphanet,79134,ORPHA:79134,2,ABCC8,"[ABC36, HHF1, HI, MRP8, PHHI, SUR1, TNDM2, sulfonylurea receptor (hyperinsulinemia)]",ATP binding cassette subfamily C member 8,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:21109997, PMID:22498247]",600509,ENSG00000006071,2594,Q09428,Q09428,HGNC:59 +GARD:0016701,Orphanet,79134,ORPHA:79134,2,KCNJ11,"[ATP-sensitive inward rectifier potassium channel 11, BIR, Kir6.2, beta-cell inward rectifier]",potassium inwardly rectifying channel subfamily J member 11,gene with protein product,11p15.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:17652641, PMID:22145471, PMID:22498247, PMID:23382304, PMID:24150202, PMID:24912436]",600937,ENSG00000187486,442,Q14654,Q14654,HGNC:6257 +GARD:0016704,Orphanet,79137,ORPHA:79137,1,KCNMA1,"[BK channel alpha subunit, KCa1.1, big potassium channel alpha subunit, mSLO1, maxiK channel]",potassium calcium-activated channel subfamily M alpha 1,gene with protein product,10q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:15937479],600150,ENSG00000156113,380,Q12791,Q12791,HGNC:6284 +GARD:0016706,Orphanet,79146,ORPHA:79146,1,KITLG,"[DFNA69, FPH2, KL-1, Kitl, SCF, SF, SLF, familial progressive hyperpigmentation 2, mast cell growth factor, steel factor, stem cell factor]",KIT ligand,gene with protein product,12q21.32,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:19375057],184745,ENSG00000049130,,P21583,P21583,HGNC:6343 +GARD:0016707,Orphanet,79151,ORPHA:79151,1,ATP2A2,"[SERCA2, calcium pump 2, sarcoplasmic/endoplasmic reticulum calcium ATPase 2]",ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2,gene with protein product,12q24.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:12542527],108740,ENSG00000174437,841,P16615,P16615,HGNC:812 +GARD:0016708,Orphanet,79154,ORPHA:79154,1,DHTKD1,"[CMT2Q, DKFZP762M115, KIAA1630, MGC3090]",dehydrogenase E1 and transketolase domain containing 1,gene with protein product,10p14,Disease-causing germline mutation(s) in,Assessed,[PMID:23141293],614984,ENSG00000181192,,Q96HY7,Q96HY7,HGNC:23537 +GARD:0016710,Orphanet,79233,ORPHA:79233,1,HPRT1,"[HGPRT, Lesch-Nyhan syndrome]",hypoxanthine phosphoribosyltransferase 1,gene with protein product,Xq26.2-q26.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10657589, PMID:26073243]",308000,ENSG00000165704,,P00492,P00492,HGNC:5157 +GARD:0016711,Orphanet,79240,ORPHA:79240,1,PHKB,,phosphorylase kinase regulatory subunit beta,gene with protein product,16q12.1,Disease-causing germline mutation(s) in,Assessed,,172490,ENSG00000102893,,Q93100,Q93100,HGNC:8927 +GARD:0016712,Orphanet,79244,ORPHA:79244,1,DLAT,"[E2, E2 component of pyruvate dehydrogenase complex, PDC-E2, dihydrolipoyllysine-residue acetyltransferase]",dihydrolipoamide S-acetyltransferase,gene with protein product,11q23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:16049940],608770,ENSG00000150768,,P10515,P10515,HGNC:2896 +GARD:0016713,Orphanet,79302,ORPHA:79302,1,CYP7B1,,cytochrome P450 family 7 subfamily B member 1,gene with protein product,8q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:9802883],603711,ENSG00000172817,1355,O75881,O75881,HGNC:2652 +GARD:0016714,Orphanet,79312,ORPHA:79312,1,MMUT,[MCM],methylmalonyl-CoA mutase,gene with protein product,6p12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,,609058,ENSG00000146085,,P22033,P22033,HGNC:7526 +GARD:0016717,Orphanet,79350,ORPHA:79350,1,PSPH,,phosphoserine phosphatase,gene with protein product,7p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:14673469],172480,ENSG00000146733,,P78330,P78330,HGNC:9577 +GARD:0016718,Orphanet,79351,ORPHA:79351,1,PHGDH,"[D-3-phosphoglycerate dehydrogenase, PDG, PGDH, SERA]",phosphoglycerate dehydrogenase,gene with protein product,1p12,Disease-causing germline mutation(s) in,Assessed,[PMID:11055895],606879,ENSG00000092621,,O43175,O43175,HGNC:8923 +GARD:0016719,Orphanet,79395,ORPHA:79395,1,LORICRIN,,loricrin cornified envelope precursor protein,gene with protein product,1q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:12072018, PMID:17953701]",152445,ENSG00000203782,,P23490,P23490,HGNC:6663 +GARD:0016720,Orphanet,79409,ORPHA:79409,1,COL7A1,"[LC collagen, collagen VII, alpha-1 polypeptide]",collagen type VII alpha 1 chain,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,,120120,ENSG00000114270,,Q02388,Q02388,HGNC:2214 +GARD:0016721,Orphanet,79431,ORPHA:79431,1,TYR,"[OCA1, OCA1A, OCAIA, oculocutaneous albinism IA]",tyrosinase,gene with protein product,11q14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301345],606933,ENSG00000077498,2643,P14679,P14679,HGNC:12442 +GARD:0016722,Orphanet,79435,ORPHA:79435,1,SLC45A2,"[AIM-1, OCA4]",solute carrier family 45 member 2,gene with protein product,5p13.2,Disease-causing germline mutation(s) in,Assessed,,606202,ENSG00000164175,1210,Q9UMX9,Q9UMX9,HGNC:16472 +GARD:0016724,Orphanet,79506,ORPHA:79506,2,APOC3,,apolipoprotein C3,gene with protein product,11q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:2022742],107720,ENSG00000110245,,P02656,P02656,HGNC:610 +GARD:0016724,Orphanet,79506,ORPHA:79506,2,CETP,"[BPI fold containing family F, BPIFF]",cholesteryl ester transfer protein,gene with protein product,16q13,Disease-causing germline mutation(s) in,Assessed,"[PMID:10998455, PMID:2586614]",118470,ENSG00000087237,,P11597,P11597,HGNC:1869 +GARD:0016726,Orphanet,79643,ORPHA:79643,1,ABCC8,"[ABC36, HHF1, HI, MRP8, PHHI, SUR1, TNDM2, sulfonylurea receptor (hyperinsulinemia)]",ATP binding cassette subfamily C member 8,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15562009, PMID:25733449]",600509,ENSG00000006071,2594,Q09428,Q09428,HGNC:59 +GARD:0016727,Orphanet,79644,ORPHA:79644,1,KCNJ11,"[ATP-sensitive inward rectifier potassium channel 11, BIR, Kir6.2, beta-cell inward rectifier]",potassium inwardly rectifying channel subfamily J member 11,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:25733449, PMID:8923010]",600937,ENSG00000187486,442,Q14654,Q14654,HGNC:6257 +GARD:0016728,Orphanet,83454,ORPHA:83454,1,GLMN,"[FAP48, FAP68, FKBPAP, GLML, GVM]","glomulin, FKBP associated protein",gene with protein product,1p22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:11845407, PMID:22092580]",601749,ENSG00000174842,,Q92990,Q92990,HGNC:14373 +GARD:0016729,Orphanet,83620,ORPHA:83620,1,NEUROG3,"[Atoh5, Math4B, bHLHa7, ngn3]",neurogenin 3,gene with protein product,10q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:16855267],604882,ENSG00000122859,,Q9Y4Z2,Q9Y4Z2,HGNC:13806 +GARD:0016730,Orphanet,84081,ORPHA:84081,2,DCDC2,"[DCDC2A, KIAA1154, NPHP19, RU2, nephronophthisis 19]",doublecortin domain containing 2,gene with protein product,6p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25557784],605755,ENSG00000146038,,Q9UHG0,Q9UHG0,HGNC:18141 +GARD:0016730,Orphanet,84081,ORPHA:84081,2,TMEM67,"[JBTS6, MGC26979, Meckelin, NPHP11]",transmembrane protein 67,gene with protein product,8q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19508969],609884,ENSG00000164953,,Q5HYA8,Q5HYA8,HGNC:28396 +GARD:0016732,Orphanet,84132,ORPHA:84132,1,SELENON,"[RSS, SELN]",selenoprotein N,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:15122708],606210,ENSG00000162430,,Q9NZV5,,HGNC:15999 +GARD:0016733,Orphanet,85112,ORPHA:85112,1,RSPO1,"[FLJ40906, RSPONDIN]",R-spondin 1,gene with protein product,1p34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17041600],609595,ENSG00000169218,,Q2MKA7,Q2MKA7,HGNC:21679 +GARD:0016734,Orphanet,85128,ORPHA:85128,1,RLBP1,[CRALBP],retinaldehyde binding protein 1,gene with protein product,15q26.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:10102298],180090,ENSG00000140522,2545,P12271,P12271,HGNC:10024 +GARD:0016735,Orphanet,85169,ORPHA:85169,1,TRPV4,"[CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2, VROAC, osmosensitive transient receptor potential channel 4]",transient receptor potential cation channel subfamily V member 4,gene with protein product,12q24.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21964574, PMID:24830047]",605427,ENSG00000111199,510,Q9HBA0,Q9HBA0,HGNC:18083 +GARD:0016736,Orphanet,85172,ORPHA:85172,1,COG4,"[COD1, DKFZP586E1519]",component of oligomeric golgi complex 4,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30290151],606976,ENSG00000103051,,Q9H9E3,Q9H9E3,HGNC:18620 +GARD:0016740,Orphanet,85194,ORPHA:85194,1,XYLT2,"[PXYLT2, XT-II, protein xylosyltransferase 2]",xylosyltransferase 2,gene with protein product,17q21.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26027496],608125,ENSG00000015532,,Q9H1B5,Q9H1B5,HGNC:15517 +GARD:0016743,Orphanet,85277,ORPHA:85277,1,NEXMIF,"[KIDLIA, MRX98, XLMR-related protein, neurite extension, XPN]",neurite extension and migration factor,gene with protein product,Xq13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23615299],300524,ENSG00000050030,,Q5QGS0,,HGNC:29433 +GARD:0016744,Orphanet,85279,ORPHA:85279,1,KDM5C,"[DXS1272E, XE169]",lysine demethylase 5C,gene with protein product,Xp11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:15586325],314690,ENSG00000126012,2682,P41229,P41229,HGNC:11114 +GARD:0016746,Orphanet,85284,ORPHA:85284,1,MBTPS2,"[S2P, site-2 protease]","membrane bound transcription factor peptidase, site 2",gene with protein product,Xp22.12,Disease-causing germline mutation(s) in,Assessed,[PMID:22105905],300294,ENSG00000012174,,O43462,O43462,HGNC:15455 +GARD:0016748,Orphanet,85294,ORPHA:85294,1,SYN1,[Synapsin-1],synapsin I,gene with protein product,Xp11.3-p11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:14985377],313440,ENSG00000008056,,P17600,P17600,HGNC:11494 +GARD:0016749,Orphanet,85295,ORPHA:85295,1,HSD17B10,"[17b-HSD10, AB-binding alcohol dehydrogenase, ABAD, CAMR, ERAB, MHBD, MRPP2, SDR5C1, mitochondrial RNase P subunit 2, short chain dehydrogenase/reductase family 5C, member 1, type 10 17b-HSD, type 10 17beta-hydroxysteroid dehydrogenase]",hydroxysteroid 17-beta dehydrogenase 10,gene with protein product,Xp11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:22127393],300256,ENSG00000072506,,Q99714,Q99714,HGNC:4800 +GARD:0016752,Orphanet,85329,ORPHA:85329,1,AP1S2,[SIGMA1B],adaptor related protein complex 1 subunit sigma 2,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:12599187, PMID:17186471]",300629,ENSG00000182287,,P56377,P56377,HGNC:560 +GARD:0016753,Orphanet,85335,ORPHA:85335,1,AP1S2,[SIGMA1B],adaptor related protein complex 1 subunit sigma 2,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17617514],300629,ENSG00000182287,,P56377,P56377,HGNC:560 +GARD:0016754,Orphanet,85447,ORPHA:85447,1,TTR,"[CTS, HsT2651]",transthyretin,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18925456],176300,ENSG00000118271,2851,P02766,P02766,HGNC:12405 +GARD:0016755,Orphanet,85451,ORPHA:85451,1,TTR,"[CTS, HsT2651]",transthyretin,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:11752443, PMID:25551524]",176300,ENSG00000118271,2851,P02766,P02766,HGNC:12405 +GARD:0016756,Orphanet,85453,ORPHA:85453,1,POLA1,[p180],"DNA polymerase alpha 1, catalytic subunit",gene with protein product,Xp22.11-p21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27019227],312040,ENSG00000101868,,P09884,P09884,HGNC:9173 +GARD:0016757,Orphanet,86813,ORPHA:86813,1,TEAD1,"[TEF-1, transcriptional enhancer factor 1]",TEA domain transcription factor 1,gene with protein product,11p15.3,Disease-causing germline mutation(s) in,Assessed,[PMID:15016762],189967,ENSG00000187079,,P28347,P28347,HGNC:11714 +GARD:0016758,Orphanet,86814,ORPHA:86814,6,CTNND2,"[GT24, NPRAP, neural plakophilin-related arm-repeat protein, neurojungin]",catenin delta 2,gene with protein product,5p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:29127138],604275,ENSG00000169862,,Q9UQB3,,HGNC:2516 +GARD:0016758,Orphanet,86814,ORPHA:86814,6,CNTN2,"[TAG-1, TAX1]",contactin 2,gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23518707],190197,ENSG00000184144,,Q02246,Q02246,HGNC:2172 +GARD:0016758,Orphanet,86814,ORPHA:86814,6,YEATS2,"[FLJ10201, FLJ12841, FLJ13308, KIAA1197]",YEATS domain containing 2,gene with protein product,3q27.1,Disease-causing germline mutation(s) in,Assessed,[PMID:31539032],613373,ENSG00000163872,,Q9ULM3,Q9ULM3,HGNC:25489 +GARD:0016758,Orphanet,86814,ORPHA:86814,6,ADRA2B,[ADRARL1],adrenoceptor alpha 2B,gene with protein product,2q11.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24114805],104260,ENSG00000274286,26,P18089,P18089,HGNC:282 +GARD:0016758,Orphanet,86814,ORPHA:86814,6,SAMD12,[FLJ39458],sterile alpha motif domain containing 12,gene with protein product,8q24.11-q24.12,Disease-causing germline mutation(s) in,Assessed,[PMID:29939203],618073,ENSG00000177570,,Q8N8I0,,HGNC:31750 +GARD:0016758,Orphanet,86814,ORPHA:86814,6,MARCHF6,"[MARCH-VI, RNF176, TEB4]",membrane associated ring-CH-type finger 6,gene with protein product,5p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31664039],613297,ENSG00000145495,,O60337,O60337,HGNC:30550 +GARD:0016759,Orphanet,86815,ORPHA:86815,1,FGF10,,fibroblast growth factor 10,gene with protein product,5p12,Disease-causing germline mutation(s) in,Assessed,[PMID:17213838],602115,ENSG00000070193,,O15520,O15520,HGNC:3666 +GARD:0016760,Orphanet,86817,ORPHA:86817,1,AK1,,adenylate kinase 1,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:10233365, PMID:9432020]",103000,ENSG00000106992,,P00568,P00568,HGNC:361 +GARD:0016761,Orphanet,86818,ORPHA:86818,3,ACSL4,"[ACS4, LACS4, lignoceroyl-CoA synthase]",acyl-CoA synthetase long chain family member 4,gene with protein product,Xq23,Role in the phenotype of,Assessed,"[PMID:11889465, PMID:9598718]",300157,ENSG00000068366,,O60488,O60488,HGNC:3571 +GARD:0016761,Orphanet,86818,ORPHA:86818,3,AMMECR1,,AMMECR nuclear protein 1,gene with protein product,Xq23,Role in the phenotype of,Assessed,"[PMID:10049589, PMID:27811305]",300195,ENSG00000101935,,Q9Y4X0,Q9Y4X0,HGNC:467 +GARD:0016761,Orphanet,86818,ORPHA:86818,3,KCNE5,,potassium voltage-gated channel subfamily E regulatory subunit 5,gene with protein product,Xq23,Role in the phenotype of,Assessed,[PMID:12011158],300328,ENSG00000176076,,Q9UJ90,Q9UJ90,HGNC:6241 +GARD:0016761,Orphanet,86818,ORPHA:86818,3,AMMECR1,,AMMECR nuclear protein 1,gene with protein product,Xq23,Disease-causing germline mutation(s) in,Assessed,[PMID:27811305],300195,ENSG00000101935,,Q9Y4X0,Q9Y4X0,HGNC:467 +GARD:0016762,Orphanet,86819,ORPHA:86819,1,HR,[AU],HR lysine demethylase and nuclear receptor corepressor,gene with protein product,8p21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18709303],602302,ENSG00000168453,,O43593,O43593,HGNC:5172 +GARD:0016764,Orphanet,86830,ORPHA:86830,1,PDGFRB,"[CD140b, JTK12, PDGFR1]",platelet derived growth factor receptor beta,gene with protein product,5q32,Part of a fusion gene in,Assessed,[PMID:17296564],173410,ENSG00000113721,1804,P09619,P09619,HGNC:8804 +GARD:0016767,Orphanet,86923,ORPHA:86923,2,SLURP1,"[ANUP, ARS, ARS component B, ArsB, LY6-MT, LY6LS, MDM, lymphocyte antigen 6-like secreted]",secreted LY6/PLAUR domain containing 1,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24604124],606119,ENSG00000126233,,P55000,,HGNC:18746 +GARD:0016767,Orphanet,86923,ORPHA:86923,2,SERPINA12,"[OL-64, Vaspin]",serpin family A member 12,gene with protein product,14q32.13,Disease-causing germline mutation(s) in,Assessed,[PMID:32247861],617471,ENSG00000165953,,Q8IW75,,HGNC:18359 +GARD:0016768,Orphanet,88629,ORPHA:88629,1,OPN1SW,"['color blindness, tritan', BOP, Blue-sensitive opsin, CBT, Color blindness, tritan, blue-sensitive opsin]","opsin 1, short wave sensitive",gene with protein product,7q32.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:1386496, PMID:1531728]",613522,ENSG00000128617,2960,P03999,P03999,HGNC:1012 +GARD:0016769,Orphanet,88630,ORPHA:88630,1,FLNA,"[ABP-280, actin binding protein 280, alpha filamin]",filamin A,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20598277],300017,ENSG00000196924,,P21333,P21333,HGNC:3754 +GARD:0016770,Orphanet,88635,ORPHA:88635,1,CASQ1,"[PDIB1, calmitine, calsequestrin 1, fast-twitch, skeletal muscle]",calsequestrin 1,gene with protein product,1q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25116801],114250,ENSG00000143318,,P31415,P31415,HGNC:1512 +GARD:0016771,Orphanet,88637,ORPHA:88637,3,POLR1C,"[AC40, RPA39, RPA40, RPA5, RPAC1, RPC40]",RNA polymerase I and III subunit C,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26151409],610060,ENSG00000171453,,O15160,O15160,HGNC:20194 +GARD:0016771,Orphanet,88637,ORPHA:88637,3,POLR3A,"[C160, RPC1, RPC155, hRPC155]",RNA polymerase III subunit A,gene with protein product,10q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21855841, PMID:22855961]",614258,ENSG00000148606,,O14802,O14802,HGNC:30074 +GARD:0016771,Orphanet,88637,ORPHA:88637,3,POLR3B,"[C128, FLJ10388, RPC2]",RNA polymerase III subunit B,gene with protein product,12q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:22036172, PMID:22855961]",614366,ENSG00000013503,,Q9NW08,Q9NW08,HGNC:30348 +GARD:0016774,Orphanet,88917,ORPHA:88917,1,COL4A5,,collagen type IV alpha 5 chain,gene with protein product,Xq22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301386],303630,ENSG00000188153,,P29400,P29400,HGNC:2207 +GARD:0016776,Orphanet,88939,ORPHA:88939,1,WNK4,,WNK lysine deficient protein kinase 4,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22073419],601844,ENSG00000126562,2283,Q96J92,Q96J92,HGNC:14544 +GARD:0016777,Orphanet,88940,ORPHA:88940,1,WNK1,"[HSAN2, PPP1R167, protein phosphatase 1, regulatory subunit 167]",WNK lysine deficient protein kinase 1,gene with protein product,12p13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:22073419],605232,ENSG00000060237,2280,Q9H4A3,Q9H4A3,HGNC:14540 +GARD:0016778,Orphanet,89838,ORPHA:89838,1,KRT14,"[epidermolysis bullosa simplex, Dowling-Meara, Koebner]",keratin 14,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:7526933],148066,ENSG00000186847,,P02533,P02533,HGNC:6416 +GARD:0016779,Orphanet,89843,ORPHA:89843,1,COL7A1,"[LC collagen, collagen VII, alpha-1 polypeptide]",collagen type VII alpha 1 chain,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,,120120,ENSG00000114270,,Q02388,Q02388,HGNC:2214 +GARD:0016780,Orphanet,89844,ORPHA:89844,3,KATNB1,,katanin regulatory subunit B1,gene with protein product,16q21,Disease-causing germline mutation(s) in,Assessed,"[PMID:25521378, PMID:25521379]",602703,ENSG00000140854,,Q9BVA0,,HGNC:6217 +GARD:0016780,Orphanet,89844,ORPHA:89844,3,NDE1,"[FLJ20101, NDE, NUDE, nudE]",nudE neurodevelopment protein 1,gene with protein product,16p13.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:21529751, PMID:21529752]",609449,ENSG00000072864,,Q9NXR1,Q9NXR1,HGNC:17619 +GARD:0016780,Orphanet,89844,ORPHA:89844,3,RELN,"[PRO1598, RL]",reelin,gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:10973257],600514,ENSG00000189056,,P78509,P78509,HGNC:9957 +GARD:0016781,Orphanet,89937,ORPHA:89937,1,FGF23,,fibroblast growth factor 23,gene with protein product,12p13.32,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:11062477, PMID:19655082]",605380,ENSG00000118972,,Q9GZV9,Q9GZV9,HGNC:3680 +GARD:0016782,Orphanet,90001,ORPHA:90001,2,OPN1LW,"[COD5, cone dystrophy 5 (X-linked)]","opsin 1, long wave sensitive",gene with protein product,Xq28,Candidate gene tested in,Not yet assessed,[PMID:23322568],300822,ENSG00000102076,2961,P04000,P04000,HGNC:9936 +GARD:0016782,Orphanet,90001,ORPHA:90001,2,OPN1MW,"[COD5, OPN1MW1, cone dystrophy 5 (X-linked)]","opsin 1, medium wave sensitive",gene with protein product,Xq28,Candidate gene tested in,Not yet assessed,[PMID:23322568],300821,ENSG00000268221,2962,P04001,P04001,HGNC:4206 +GARD:0016783,Orphanet,90023,ORPHA:90023,1,LAMTOR2,"[ENDAP, Endosomal adaptor protein, MAPBPIP, MAPKSP1 adaptor protein, MAPKSP1AP, Mitogen activated protein binding protein interacting protein, Ragulator2, endosomal adaptor protein, mitogen activated protein binding protein interacting protein, p14]","late endosomal/lysosomal adaptor, MAPK and MTOR activator 2",gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,,610389,ENSG00000116586,,Q9Y2Q5,Q9Y2Q5,HGNC:29796 +GARD:0016784,Orphanet,90030,ORPHA:90030,1,GSR,[glutathione S-reductase],glutathione-disulfide reductase,gene with protein product,8p12,Disease-causing germline mutation(s) in,Assessed,[PMID:17185460],138300,ENSG00000104687,2613,P00390,P00390,HGNC:4623 +GARD:0016785,Orphanet,90044,ORPHA:90044,1,ABCB6,"[ATP-binding cassette half-transporter, EST45597, MTABC3, umat]",ATP binding cassette subfamily B member 6 (Langereis blood group),gene with protein product,2q35,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:23180570, PMID:24947683]",605452,ENSG00000115657,773,Q9NP58,Q9NP58,HGNC:47 +GARD:0016787,Orphanet,90120,ORPHA:90120,2,MFN2,"[CMT2A2, CPRP1, KIAA0214, MARF]",mitofusin 2,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,[PMID:16437557],608507,ENSG00000116688,3131,O95140,O95140,HGNC:16877 +GARD:0016787,Orphanet,90120,ORPHA:90120,2,SLC25A46,,solute carrier family 25 member 46,gene with protein product,5q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26168012],610826,ENSG00000164209,1096,Q96AG3,Q96AG3,HGNC:25198 +GARD:0016788,Orphanet,90308,ORPHA:90308,1,AGGF1,"[FLJ10283, GPATC7, GPATCH7, HSU84971, VG5Q]",angiogenic factor with G-patch and FHA domains 1,gene with protein product,5q13.3,Major susceptibility factor in,Assessed,[PMID:18564129],608464,ENSG00000164252,,Q8N302,Q8N302,HGNC:24684 +GARD:0016789,Orphanet,90368,ORPHA:90368,2,CDSN,[D6S586E],corneodesmosin,gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:12754508],602593,ENSG00000204539,,Q15517,Q15517,HGNC:1802 +GARD:0016789,Orphanet,90368,ORPHA:90368,2,KRT74,"[K6IRS4, KRT5C, KRT6IRS4]",keratin 74,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:21188418],608248,ENSG00000170484,,Q7RTS7,Q7RTS7,HGNC:28929 +GARD:0016790,Orphanet,90625,ORPHA:90625,3,SMPX,"[Chisel, Csl, DFNX4]",small muscle protein X-linked,gene with protein product,Xp22.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",300226,ENSG00000091482,,Q9UHP9,,HGNC:11122 +GARD:0016790,Orphanet,90625,ORPHA:90625,3,PRPS1,"[CMTX5, DFNX1, PRS I, ribose-phosphate diphosphokinase 1]",phosphoribosyl pyrophosphate synthetase 1,gene with protein product,Xq22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",311850,ENSG00000147224,,P60891,P60891,HGNC:9462 +GARD:0016790,Orphanet,90625,ORPHA:90625,3,COL4A6,,collagen type IV alpha 6 chain,gene with protein product,Xq22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23714752],303631,ENSG00000197565,,Q14031,Q14031,HGNC:2208 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,POU4F3,[BRN3C],POU class 4 homeobox 3,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",602460,ENSG00000091010,,Q15319,Q15319,HGNC:9220 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,GRHL2,"[BOM, FLJ13782, brother-of-MGR]",grainyhead like transcription factor 2,gene with protein product,8q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",608576,ENSG00000083307,,Q6ISB3,Q6ISB3,HGNC:2799 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,GJB3,"[CX31, connexin 31]",gap junction protein beta 3,gene with protein product,1p34.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",603324,ENSG00000188910,720,O75712,O75712,HGNC:4285 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,COL11A2,[HKE5],collagen type XI alpha 2 chain,gene with protein product,6p21.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",120290,ENSG00000204248,,P13942,P13942,HGNC:2187 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,DIABLO,"[DFNA64, DIABLO-S, FLJ10537, FLJ25049, SMAC, second mitochondria-derived activator of caspase]",diablo IAP-binding mitochondrial protein,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:21722859, PMID:24148127]",605219,ENSG00000184047,,Q9NR28,Q9NR28,HGNC:21528 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,SIX1,,SIX homeobox 1,gene with protein product,14q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301607],601205,ENSG00000126778,,Q15475,Q15475,HGNC:10887 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,KITLG,"[DFNA69, FPH2, KL-1, Kitl, SCF, SF, SLF, familial progressive hyperpigmentation 2, mast cell growth factor, steel factor, stem cell factor]",KIT ligand,gene with protein product,12q21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:26522471],184745,ENSG00000049130,,P21583,P21583,HGNC:6343 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,SSBP1,"[SSBP, mtSSB]",single stranded DNA binding protein 1,gene with protein product,7q34,Major susceptibility factor in,Assessed,[PMID:29182774],600439,ENSG00000106028,,Q04837,Q04837,HGNC:11317 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,TNC,"[MGC167029, TN, hexabrachion (tenascin)]",tenascin C,gene with protein product,9q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23936043],187380,ENSG00000041982,,P24821,P24821,HGNC:5318 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,TBC1D24,"[DFNA65, KIAA1171, TBC/LysM-associated domain containing 6, TLDC6, skywalker homolog (Drosophila)]",TBC1 domain family member 24,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:24729539, PMID:24729547]",613577,ENSG00000162065,,Q9ULP9,Q9ULP9,HGNC:29203 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,DIAPH3,"[AN, DRF3, FLJ34705, NSDAN]",diaphanous related formin 3,gene with protein product,13q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20624953],614567,ENSG00000139734,,Q9NSV4,Q9NSV4,HGNC:15480 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,TJP2,"[Friedreich ataxia region gene X104 (tight junction protein ZO-2), X104, ZO-2, ZO2, zona occludens 2]",tight junction protein 2,gene with protein product,9q21.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",607709,ENSG00000119139,,Q9UDY2,Q9UDY2,HGNC:11828 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,TECTA,,tectorin alpha,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",602574,ENSG00000109927,,O75443,O75443,HGNC:11720 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,MYO7A,[NSRD2],myosin VIIA,gene with protein product,11q13.5,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",276903,ENSG00000137474,,Q13402,Q13402,HGNC:7606 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,MYO6,[KIAA0389],myosin VI,gene with protein product,6q14.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",600970,ENSG00000196586,,Q9UM54,Q9UM54,HGNC:7605 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,MIR96,[hsa-mir-96],microRNA 96,Non-coding RNA,7q32.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",611606,ENSG00000199158,,,,HGNC:31648 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,KCNQ4,[Kv7.4],potassium voltage-gated channel subfamily Q member 4,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",603537,ENSG00000117013,563,P56696,P56696,HGNC:6298 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,GJB2,"[CX26, NSRD1, connexin 26]",gap junction protein beta 2,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",121011,ENSG00000165474,716,P29033,P29033,HGNC:4284 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,EYA4,,EYA transcriptional coactivator and phosphatase 4,gene with protein product,6q23.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",603550,ENSG00000112319,,O95677,O95677,HGNC:3522 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,COCH,[COCH-5B2],cochlin,gene with protein product,14q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",603196,ENSG00000100473,,O43405,,HGNC:2180 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,PLS1,"[I-plastin, Plastin-1]",plastin 1,gene with protein product,3q23,Disease-causing germline mutation(s) in,Assessed,"[PMID:30872814, PMID:31397523]",602734,ENSG00000120756,,Q14651,Q14651,HGNC:9090 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,DMXL2,"[DFNA71, KIAA0856, RC3, rabconnectin 3]",Dmx like 2,gene with protein product,15q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27657680],612186,ENSG00000104093,,Q8TDJ6,,HGNC:2938 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,HOMER2,"[CPD, Cupidin, DFNA68, HOMER-2, HOMER-2A, HOMER-2B, Vesl-2]",homer scaffold protein 2,gene with protein product,15q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25816005],604799,ENSG00000103942,,Q9NSB8,Q9NSB8,HGNC:17513 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,P2RX2,[P2X2],purinergic receptor P2X 2,gene with protein product,12q24.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:23345450]",600844,ENSG00000187848,479,Q9UBL9,Q9UBL9,HGNC:15459 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,USP48,,ubiquitin specific peptidase 48,gene with protein product,1p36.12,Disease-causing germline mutation(s) in,Assessed,[PMID:34059922],617445,ENSG00000090686,,Q86UV5,,HGNC:18533 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,TRRAP,"[PAF400, TR-AP, Tra1]",transformation/transcription domain associated protein,gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:31231791],603015,ENSG00000196367,2256,Q9Y4A5,,HGNC:12347 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,ABCC1,"[GS-X, glutathione S-conjugate export pump]",ATP binding cassette subfamily C member 1,gene with protein product,16p13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:31273342],158343,ENSG00000103222,779,P33527,P33527,HGNC:51 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,OSBPL2,"[DFNA67, KIAA0772, ORP-2]",oxysterol binding protein like 2,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:25077649],606731,ENSG00000130703,,Q9H1P3,Q9H1P3,HGNC:15761 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,PTPRQ,[phosphatidylinositol phosphatase PTPRQ],protein tyrosine phosphatase receptor type Q,gene with protein product,12q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:29309402],603317,ENSG00000139304,1864,Q9UMZ3,,HGNC:9679 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,MYH9,"[EPSTS, FTNS, MHA, NMHC-II-A, NMMHCA, nonmuscle myosin heavy chain II-A]",myosin heavy chain 9,gene with protein product,22q12.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",160775,ENSG00000100345,,P35579,P35579,HGNC:7579 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,GSDME,"[ICERE-1, inversely correlated with estrogen receptor expression]",gasdermin E,gene with protein product,7p15.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",608798,ENSG00000105928,,O60443,,HGNC:2810 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,CCDC50,[Ymer],coiled-coil domain containing 50,gene with protein product,3q28,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",611051,ENSG00000152492,,Q8IVM0,Q8IVM0,HGNC:18111 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,ACTG1,,actin gamma 1,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",102560,ENSG00000184009,,P63261,P63261,HGNC:144 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,CEACAM16,[DFNA4B],"CEA cell adhesion molecule 16, tectorial membrane component",gene with protein product,19q13.31-q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:21368133],614591,ENSG00000213892,,Q2WEN9,,HGNC:31948 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,SLC17A8,"[VGLUT3, vesicular glutamate transporter 3]",solute carrier family 17 member 8,gene with protein product,12q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301607],607557,ENSG00000179520,1009,Q8NDX2,Q8NDX2,HGNC:20151 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,CD164,"[DFNA66, MGC-24, MUC-24, deafness, autosomal dominant 66]",CD164 molecule,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,[PMID:26197441],603356,ENSG00000135535,,Q04900,Q04900,HGNC:1632 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,MYO1A,,myosin IA,gene with protein product,12q13.3,Candidate gene tested in,Not yet assessed,,601478,ENSG00000166866,,Q9UBC5,,HGNC:7595 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,PDE1C,[Hcam3],phosphodiesterase 1C,gene with protein product,7p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29860631],602987,ENSG00000154678,1296,Q14123,Q14123,HGNC:8776 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,WFS1,"[DIDMOAD, WFS]",wolframin ER transmembrane glycoprotein,gene with protein product,4p16.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",606201,ENSG00000109501,,O76024,O76024,HGNC:12762 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,TMC1,,transmembrane channel like 1,gene with protein product,9q21.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",606706,ENSG00000165091,,Q8TDI8,,HGNC:16513 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,MYH14,"[FLJ13881, KIAA2034, MHC16, MYH17]",myosin heavy chain 14,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",608568,ENSG00000105357,,Q7Z406,Q7Z406,HGNC:23212 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,GJB6,"[CX30, EDH, HED, connexin 30]",gap junction protein beta 6,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",604418,ENSG00000121742,717,O95452,O95452,HGNC:4288 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,SLC44A4,"[CTL4, DFNA72, FLJ14491, NG22, TPPT]",solute carrier family 44 member 4,gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:28013291],606107,ENSG00000204385,1207,Q53GD3,Q53GD3,HGNC:13941 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,MYO1C,[myr2],myosin IC,gene with protein product,17p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19027848, PMID:24148127]",606538,ENSG00000197879,,O00159,O00159,HGNC:7597 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,MCM2,"[BM28, D3S3194, DFNA70, KIAA0030, cdc19, mitotin]",minichromosome maintenance complex component 2,gene with protein product,3q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26196677],116945,ENSG00000073111,,P49736,P49736,HGNC:6944 +GARD:0016791,Orphanet,90635,ORPHA:90635,46,CRYM,"[DFNA40, thiomorpholine-carboxylate dehydrogenase]",crystallin mu,gene with protein product,16p12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24148127],123740,ENSG00000103316,,Q14894,Q14894,HGNC:2418 +GARD:0016792,Orphanet,90641,ORPHA:90641,8,TRMU,"[FLJ10140, MTO2, MTU1, mitochondrial tRNA-specific 2-thiouridylase 1]",tRNA mitochondrial 2-thiouridylase,gene with protein product,22q13.31,Modifying germline mutation in,Assessed,[PMID:23510774],610230,ENSG00000100416,,O75648,O75648,HGNC:25481 +GARD:0016792,Orphanet,90641,ORPHA:90641,8,MT-TH,[trnH],mitochondrially encoded tRNA-His (CAU/C),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:21931169],590040,ENSG00000210176,,,,HGNC:7487 +GARD:0016792,Orphanet,90641,ORPHA:90641,8,TFB1M,"[CGI-75, dimethyladenosine transferase 1, mitochondrial, mtTFB]","transcription factor B1, mitochondrial",gene with protein product,6q25.3,Modifying germline mutation in,Assessed,[PMID:23510774],607033,ENSG00000029639,,Q8WVM0,Q8WVM0,HGNC:17037 +GARD:0016792,Orphanet,90641,ORPHA:90641,8,MT-ND4,"[NAD4, NADH-ubiquinone oxidoreductase chain 4, ND4, complex I ND4 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4,gene with protein product,mitochondria,Candidate gene tested in,Not yet assessed,[PMID:17723226],516003,ENSG00000198886,,P03905,P03905,HGNC:7459 +GARD:0016792,Orphanet,90641,ORPHA:90641,8,POU3F4,"[BRN4, DFNX2, OTF9, Octamer-binding transcription factor 9, brain-4]",POU class 3 homeobox 4,gene with protein product,Xq21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19930154],300039,ENSG00000196767,,P49335,,HGNC:9217 +GARD:0016792,Orphanet,90641,ORPHA:90641,8,MT-CO1,"[COI, COX1]",mitochondrially encoded cytochrome c oxidase I,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:20301607],516030,ENSG00000198804,,P00395,P00395,HGNC:7419 +GARD:0016792,Orphanet,90641,ORPHA:90641,8,MT-TS1,[TRNS1],mitochondrially encoded tRNA-Ser (UCN) 1,Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",590080,ENSG00000210151,,,,HGNC:7497 +GARD:0016792,Orphanet,90641,ORPHA:90641,8,MT-RNR1,"[12S, MOTS-c, mitochondrial open-reading-frame of the twelve S rRNA type-c]",mitochondrially encoded 12S rRNA,Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",561000,ENSG00000211459,,A0A0C5B5G6,,HGNC:7470 +GARD:0016793,Orphanet,90673,ORPHA:90673,1,TSHR,[LGR3],thyroid stimulating hormone receptor,gene with protein product,14q24-q31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19158199, PMID:20537182]",603372,ENSG00000165409,255,P16473,P16473,HGNC:12373 +GARD:0016794,Orphanet,90796,ORPHA:90796,2,CYP17A1,"[CPT7, P450C17, S17AH, Steroid 17-alpha-monooxygenase]",cytochrome P450 family 17 subfamily A member 1,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,[PMID:12466376],609300,ENSG00000148795,1361,P05093,P05093,HGNC:2593 +GARD:0016794,Orphanet,90796,ORPHA:90796,2,CYB5A,,cytochrome b5 type A,gene with protein product,18q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20080843],613218,ENSG00000166347,,P00167,P00167,HGNC:2570 +GARD:0016795,Orphanet,91130,ORPHA:91130,1,SLC25A3,,solute carrier family 25 member 3,gene with protein product,12q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17273968],600370,ENSG00000075415,1061,Q00325,Q00325,HGNC:10989 +GARD:0016796,Orphanet,91135,ORPHA:91135,1,GGCX,"[VKCFD1, peptidyl-glutamate 4-carboxylase, vitamin K-dependent gamma-carboxylase]",gamma-glutamyl carboxylase,gene with protein product,2p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17110937],137167,ENSG00000115486,1268,P38435,P38435,HGNC:4247 +GARD:0016798,Orphanet,91411,ORPHA:91411,2,ZFHX4,"[FLJ20980, ZFH4]",zinc finger homeobox 4,gene with protein product,8q21.13,Candidate gene tested in,Not yet assessed,"[PMID:11935336, PMID:17987257]",606940,ENSG00000091656,,Q86UP3,,HGNC:30939 +GARD:0016798,Orphanet,91411,ORPHA:91411,2,COL25A1,,collagen type XXV alpha 1 chain,gene with protein product,4q25,Disease-causing germline mutation(s) in,Assessed,"[PMID:25500261, PMID:26486031]",610004,ENSG00000188517,,Q9BXS0,Q9BXS0,HGNC:18603 +GARD:0016800,Orphanet,91490,ORPHA:91490,1,GJA8,"[CX50, connexin 50]",gap junction protein alpha 8,gene with protein product,1q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28455998],600897,ENSG00000121634,732,P48165,P48165,HGNC:4281 +GARD:0016803,Orphanet,91495,ORPHA:91495,3,FZD4,[CD344],frizzled class receptor 4,gene with protein product,11q14.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:19172507, PMID:20092598, PMID:20301506]",604579,ENSG00000174804,232,Q9ULV1,Q9ULV1,HGNC:4042 +GARD:0016803,Orphanet,91495,ORPHA:91495,3,ATOH7,"[Math5, bHLHa13]",atonal bHLH transcription factor 7,gene with protein product,10q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22645276],609875,ENSG00000179774,,Q8N100,,HGNC:13907 +GARD:0016803,Orphanet,91495,ORPHA:91495,3,NDP,[norrin],norrin cystine knot growth factor NDP,gene with protein product,Xp11.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301506],300658,ENSG00000124479,,Q00604,Q00604,HGNC:7678 +GARD:0016804,Orphanet,93100,ORPHA:93100,8,UPK3A,,uroplakin 3A,gene with protein product,22q13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:15888565],611559,ENSG00000100373,,O75631,,HGNC:12580 +GARD:0016804,Orphanet,93100,ORPHA:93100,8,FREM2,[DKFZp686J0811],FRAS1 related extracellular matrix 2,gene with protein product,13q13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21900877, PMID:24700879]",608945,ENSG00000150893,,Q5SZK8,,HGNC:25396 +GARD:0016804,Orphanet,93100,ORPHA:93100,8,FRAS1,"[FLJ14927, FLJ22031, KIAA1500]",Fraser extracellular matrix complex subunit 1,gene with protein product,4q21.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:21900877, PMID:24700879]",607830,ENSG00000138759,,Q86XX4,,HGNC:19185 +GARD:0016804,Orphanet,93100,ORPHA:93100,8,RET,"[CDHF12, CDHR16, PTC, RET receptor tyrosine kinase, RET51, cadherin-related family member 16, rearranged during transfection]",ret proto-oncogene,gene with protein product,10q11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:21900877, PMID:24429398]",164761,ENSG00000165731,2185,P07949,P07949,HGNC:9967 +GARD:0016804,Orphanet,93100,ORPHA:93100,8,DSTYK,"[DustyPK, KIAA0472, RIP5]",dual serine/threonine and tyrosine protein kinase,gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17273976, PMID:23862974]",612666,ENSG00000133059,2008,Q6XUX3,,HGNC:29043 +GARD:0016804,Orphanet,93100,ORPHA:93100,8,BMP4,,bone morphogenetic protein 4,gene with protein product,14q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21900877],112262,ENSG00000125378,,P12644,P12644,HGNC:1071 +GARD:0016804,Orphanet,93100,ORPHA:93100,8,FREM1,"[C9orf143, C9orf145, DKFZp686M16108, FLJ25461, TILRR]",FRAS1 related extracellular matrix 1,gene with protein product,9p22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20807610, PMID:24370773]",608944,ENSG00000164946,,Q5H8C1,,HGNC:23399 +GARD:0016804,Orphanet,93100,ORPHA:93100,8,GREB1L,"[C18orf6, FLJ13687]",GREB1 like retinoic acid receptor coactivator,gene with protein product,18q11.1-q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:29100090, PMID:29100091]",617782,ENSG00000141449,,Q9C091,,HGNC:31042 +GARD:0016805,Orphanet,93160,ORPHA:93160,1,VDR,"[1,25- dihydroxyvitamin D3 receptor, NR1I1, PPP1R163, protein phosphatase 1, regulatory subunit 163]",vitamin D receptor,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:9284761],601769,ENSG00000111424,605,P11473,P11473,HGNC:12679 +GARD:0016806,Orphanet,93256,ORPHA:93256,1,FMR1,"[FMRP, FRAXA, MGC87458]",fragile X messenger ribonucleoprotein 1,gene with protein product,Xq27.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,,309550,ENSG00000102081,,Q06787,,HGNC:3775 +GARD:0016807,Orphanet,93258,ORPHA:93258,2,FGFR2,"[CD332, CEK3, Crouzon syndrome, ECT1, K-SAM, Pfeiffer syndrome, TK14, TK25]",fibroblast growth factor receptor 2,gene with protein product,10q26.13,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301628],176943,ENSG00000066468,1809,P21802,P21802,HGNC:3689 +GARD:0016807,Orphanet,93258,ORPHA:93258,2,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:20301628],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0016808,Orphanet,93259,ORPHA:93259,1,FGFR2,"[CD332, CEK3, Crouzon syndrome, ECT1, K-SAM, Pfeiffer syndrome, TK14, TK25]",fibroblast growth factor receptor 2,gene with protein product,10q26.13,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301628],176943,ENSG00000066468,1809,P21802,P21802,HGNC:3689 +GARD:0016809,Orphanet,93260,ORPHA:93260,1,FGFR2,"[CD332, CEK3, Crouzon syndrome, ECT1, K-SAM, Pfeiffer syndrome, TK14, TK25]",fibroblast growth factor receptor 2,gene with protein product,10q26.13,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301628],176943,ENSG00000066468,1809,P21802,P21802,HGNC:3689 +GARD:0016810,Orphanet,93262,ORPHA:93262,1,FGFR3,"[CD333, CEK2, JTK4]",fibroblast growth factor receptor 3,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301628],134934,ENSG00000068078,1810,P22607,P22607,HGNC:3690 +GARD:0016812,Orphanet,93279,ORPHA:93279,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:1975693],120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0016813,Orphanet,93282,ORPHA:93282,1,PAPSS2,"[ATPSK2, PAPS synthase 2, adenosine 5'-phosphosulfate kinase, adenylyl-sulfate kinase, bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2, sulfate adenylyltransferase]",3'-phosphoadenosine 5'-phosphosulfate synthase 2,gene with protein product,10q23.2-q23.31,Disease-causing germline mutation(s) in,Assessed,[PMID:9771708],603005,ENSG00000198682,,O95340,O95340,HGNC:8604 +GARD:0016814,Orphanet,93283,ORPHA:93283,1,ACAN,"[CSPGCP, aggrecan proteoglycan]",aggrecan,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16080123],155760,ENSG00000157766,,P16112,P16112,HGNC:319 +GARD:0016815,Orphanet,93297,ORPHA:93297,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:10797431],120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0016817,Orphanet,93334,ORPHA:93334,6,GLI3,"[ACLS, DNA-binding protein, PAP-A, PAPA, PAPA1, PAPB, PPDIV, oncogene GLI3, zinc finger protein GLI3]",GLI family zinc finger 3,gene with protein product,7p14.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:22428873, PMID:26394607]",165240,ENSG00000106571,,P10071,P10071,HGNC:4319 +GARD:0016817,Orphanet,93334,ORPHA:93334,6,CIBAR1,"[BARMR1, FLJ38979]",CBY1 interacting BAR domain containing 1,gene with protein product,8q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30395363],617273,ENSG00000188343,,A1XBS5,A1XBS5,HGNC:30452 +GARD:0016817,Orphanet,93334,ORPHA:93334,6,KIAA0825,"[DKFZp686F0372, MGC34713]",KIAA0825,gene with protein product,5q15,Disease-causing germline mutation(s) in,Assessed,[PMID:30982135],617266,ENSG00000185261,,Q8IV33,Q8IV33,HGNC:28532 +GARD:0016817,Orphanet,93334,ORPHA:93334,6,IQCE,[KIAA1023],IQ motif containing E,gene with protein product,7p22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:26394607, PMID:28488682]",617631,ENSG00000106012,,Q6IPM2,Q6IPM2,HGNC:29171 +GARD:0016817,Orphanet,93334,ORPHA:93334,6,ZNF141,[pHZ-44],zinc finger protein 141,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:23160277, PMID:26394607]",194648,ENSG00000131127,,Q15928,Q15928,HGNC:12926 +GARD:0016817,Orphanet,93334,ORPHA:93334,6,GLI1,,GLI family zinc finger 1,gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31549748],165220,ENSG00000111087,,P08151,P08151,HGNC:4317 +GARD:0016818,Orphanet,93335,ORPHA:93335,2,GLI3,"[ACLS, DNA-binding protein, PAP-A, PAPA, PAPA1, PAPB, PPDIV, oncogene GLI3, zinc finger protein GLI3]",GLI family zinc finger 3,gene with protein product,7p14.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18000979, PMID:26394607]",165240,ENSG00000106571,,P10071,P10071,HGNC:4319 +GARD:0016818,Orphanet,93335,ORPHA:93335,2,GLI1,,GLI family zinc finger 1,gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31549748],165220,ENSG00000111087,,P08151,P08151,HGNC:4317 +GARD:0016821,Orphanet,93409,ORPHA:93409,1,HOXD13,[synpolydactyly],homeobox D13,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17236141],142989,ENSG00000128714,,P35453,P35453,HGNC:5136 +GARD:0016823,Orphanet,93581,ORPHA:93581,4,CFHR5,"[FHR-5, FHR5, Factor H related protein 5, factor H related protein 5]",complement factor H related 5,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301541],608593,ENSG00000134389,,Q9BXR6,Q9BXR6,HGNC:24668 +GARD:0016823,Orphanet,93581,ORPHA:93581,4,CFHR4,"[FHR-4, FHR4]",complement factor H related 4,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301541],605337,ENSG00000134365,,Q92496,Q92496,HGNC:16979 +GARD:0016823,Orphanet,93581,ORPHA:93581,4,CFHR1,"[CFHL, FHR1, H36-1, H36-2]",complement factor H related 1,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301541],134371,ENSG00000244414,,Q03591,Q03591,HGNC:4888 +GARD:0016823,Orphanet,93581,ORPHA:93581,4,CFHR3,"[DOWN16, FHR-3, FHR3, HLF4]",complement factor H related 3,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301541],605336,ENSG00000116785,,Q02985,Q02985,HGNC:16980 +GARD:0016824,Orphanet,93589,ORPHA:93589,3,MAPKBP1,"[KIAA0596, NPHP20]",mitogen-activated protein kinase binding protein 1,gene with protein product,15q15.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28089251],616786,ENSG00000137802,,O60336,O60336,HGNC:29536 +GARD:0016824,Orphanet,93589,ORPHA:93589,3,XPNPEP3,"[APP3, ICP55, Intermediate Cleaving Peptidase 55, NPHPL1]",X-prolyl aminopeptidase 3,gene with protein product,22q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20179356],613553,ENSG00000196236,1580,Q9NQH7,Q9NQH7,HGNC:28052 +GARD:0016824,Orphanet,93589,ORPHA:93589,3,NPHP3,"[CFAP31, FLJ30691, FLJ36696, KIAA2000, MKS7, Meckel syndrome, type 7, NPH3, SLSN3, cilia and flagella associated protein 31]",nephrocystin 3,gene with protein product,3q22.1,Disease-causing germline mutation(s) in,Assessed,,608002,ENSG00000113971,,Q7Z494,Q7Z494,HGNC:7907 +GARD:0016825,Orphanet,93591,ORPHA:93591,7,ANKS6,"[FLJ36928, NPHP16]",ankyrin repeat and sterile alpha motif domain containing 6,gene with protein product,9q22.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23793029],615370,ENSG00000165138,,Q68DC2,,HGNC:26724 +GARD:0016825,Orphanet,93591,ORPHA:93591,7,TTC21B,"[FAP60, FLA17, FLJ11457, IFT139B, JBTS11, NPHP12, THM1]",tetratricopeptide repeat domain 21B,gene with protein product,2q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21258341],612014,ENSG00000123607,,Q7Z4L5,Q7Z4L5,HGNC:25660 +GARD:0016825,Orphanet,93591,ORPHA:93591,7,INVS,[nephrocystin 2],inversin,gene with protein product,9q31.1,Disease-causing germline mutation(s) in,Assessed,,243305,ENSG00000119509,,Q9Y283,,HGNC:17870 +GARD:0016825,Orphanet,93591,ORPHA:93591,7,NEK8,[NPHP9],NIMA related kinase 8,gene with protein product,17q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18199800],609799,ENSG00000160602,2123,Q86SG6,Q86SG6,HGNC:13387 +GARD:0016825,Orphanet,93591,ORPHA:93591,7,NPHP3,"[CFAP31, FLJ30691, FLJ36696, KIAA2000, MKS7, Meckel syndrome, type 7, NPH3, SLSN3, cilia and flagella associated protein 31]",nephrocystin 3,gene with protein product,3q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:18371931, PMID:26184788]",608002,ENSG00000113971,,Q7Z494,Q7Z494,HGNC:7907 +GARD:0016825,Orphanet,93591,ORPHA:93591,7,ZNF423,"[Early B-cell factor associated zinc finger protein, Ebfaz, JBTS19, KIAA0760, NPHP14, OAZ, OLF-1/EBF associated zinc finger gene, Roaz, Zfp104, early B-cell factor associated zinc finger protein, hOAZ]",zinc finger protein 423,gene with protein product,16q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22863007],604557,ENSG00000102935,,Q2M1K9,,HGNC:16762 +GARD:0016825,Orphanet,93591,ORPHA:93591,7,CEP83,"[NPHP18, NY-REN-58]",centrosomal protein 83,gene with protein product,12q22,Disease-causing germline mutation(s) in,Assessed,[PMID:24882706],615847,ENSG00000173588,,Q9Y592,Q9Y592,HGNC:17966 +GARD:0016826,Orphanet,93607,ORPHA:93607,1,SLC4A4,"[HNBC1, NBC1, NBC2, hhNMC, pNBC]",solute carrier family 4 member 4,gene with protein product,4q13.3,Disease-causing germline mutation(s) in,Assessed,,603345,ENSG00000080493,908,Q9Y6R1,Q9Y6R1,HGNC:11030 +GARD:0016827,Orphanet,93612,ORPHA:93612,1,SLC3A1,"[ATR1, CSNU1, D2H, NBAT, RBAT]",solute carrier family 3 member 1,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,[PMID:21255007],104614,ENSG00000138079,889,Q07837,Q07837,HGNC:11025 +GARD:0016828,Orphanet,93613,ORPHA:93613,1,SLC7A9,,solute carrier family 7 member 9,gene with protein product,19q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:21255007],604144,ENSG00000021488,900,P82251,P82251,HGNC:11067 +GARD:0016829,Orphanet,93616,ORPHA:93616,2,HBA2,[HBA-T2],hemoglobin subunit alpha 2,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,,141850,ENSG00000188536,,P69905,P69905,HGNC:4824 +GARD:0016829,Orphanet,93616,ORPHA:93616,2,HBA1,[HBA-T3],hemoglobin subunit alpha 1,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,,141800,ENSG00000206172,,P69905,P69905,HGNC:4823 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,TDGF1,"[CR, CR-1, CRIPTO, Cripto-1]",teratocarcinoma-derived growth factor 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,,187395,ENSG00000241186,,P13385,P13385,HGNC:11701 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,PTCH1,[BCNS],patched 1,gene with protein product,9q22.32,Disease-causing germline mutation(s) in,Assessed,,601309,ENSG00000185920,,Q13635,Q13635,HGNC:9585 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,GAS1,[Growth arrest-specific gene-1],growth arrest specific 1,gene with protein product,9q21.33,Disease-causing germline mutation(s) in,Assessed,,139185,ENSG00000180447,,P54826,P54826,HGNC:4165 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,FGF8,"[AIGF, androgen-induced growth factor]",fibroblast growth factor 8,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,,600483,ENSG00000107831,,P55075,P55075,HGNC:3686 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,DLL1,,delta like canonical Notch ligand 1,gene with protein product,6q27,Disease-causing germline mutation(s) in,Assessed,,606582,ENSG00000198719,,O00548,O00548,HGNC:2908 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,SIX3,,SIX homeobox 3,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,,603714,ENSG00000138083,,O95343,O95343,HGNC:10889 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,CDON,"[CDO, CDON1, Ihog, ORCAM, cell adhesion molecule-related/down-regulated by oncogenes]","cell adhesion associated, oncogene regulated",gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,,608707,ENSG00000064309,,Q4KMG0,Q4KMG0,HGNC:17104 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Candidate gene tested in,Not yet assessed,[PMID:27363716],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,TGIF1,,TGFB induced factor homeobox 1,gene with protein product,18p11.31,Disease-causing germline mutation(s) in,Assessed,,602630,ENSG00000177426,,Q15583,Q15583,HGNC:11776 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,,600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,NODAL,,nodal growth differentiation factor,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,,601265,ENSG00000156574,,Q96S42,Q96S42,HGNC:7865 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,GLI2,"[HPE9, THP1, THP2, tax helper protein 1, tax helper protein 2, tax-responsive element-2 holding protein]",GLI family zinc finger 2,gene with protein product,2q14.2,Disease-causing germline mutation(s) in,Assessed,,165230,ENSG00000074047,,P10070,P10070,HGNC:4318 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,FOXH1,[FAST1],forkhead box H1,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,,603621,ENSG00000160973,,O75593,O75593,HGNC:3814 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,STIL,[MCPH7],STIL centriolar assembly protein,gene with protein product,1p33,Disease-causing germline mutation(s) in,Assessed,[PMID:29785796],181590,ENSG00000123473,,Q15468,Q15468,HGNC:10879 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,ZIC2,"[HPE5, Zinc finger protein of the cerebellum 2]",Zic family member 2,gene with protein product,13q32.3,Disease-causing germline mutation(s) in,Assessed,,603073,ENSG00000043355,,O95409,,HGNC:12873 +GARD:0016830,Orphanet,93924,ORPHA:93924,16,DISP1,"[DISPA, DKFZP434I0428, MGC13130, MGC16796]",dispatched RND transporter family member 1,gene with protein product,1q41,Disease-causing germline mutation(s) in,Assessed,,607502,ENSG00000154309,,Q96F81,,HGNC:19711 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,TDGF1,"[CR, CR-1, CRIPTO, Cripto-1]",teratocarcinoma-derived growth factor 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,,187395,ENSG00000241186,,P13385,P13385,HGNC:11701 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,PTCH1,[BCNS],patched 1,gene with protein product,9q22.32,Disease-causing germline mutation(s) in,Assessed,,601309,ENSG00000185920,,Q13635,Q13635,HGNC:9585 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,GAS1,[Growth arrest-specific gene-1],growth arrest specific 1,gene with protein product,9q21.33,Disease-causing germline mutation(s) in,Assessed,,139185,ENSG00000180447,,P54826,P54826,HGNC:4165 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,FGF8,"[AIGF, androgen-induced growth factor]",fibroblast growth factor 8,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,,600483,ENSG00000107831,,P55075,P55075,HGNC:3686 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,DLL1,,delta like canonical Notch ligand 1,gene with protein product,6q27,Disease-causing germline mutation(s) in,Assessed,,606582,ENSG00000198719,,O00548,O00548,HGNC:2908 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,SIX3,,SIX homeobox 3,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,,603714,ENSG00000138083,,O95343,O95343,HGNC:10889 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,CDON,"[CDO, CDON1, Ihog, ORCAM, cell adhesion molecule-related/down-regulated by oncogenes]","cell adhesion associated, oncogene regulated",gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,,608707,ENSG00000064309,,Q4KMG0,Q4KMG0,HGNC:17104 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,STAG2,"[SA-2, SA2, SCC3B]",stromal antigen 2,gene with protein product,Xq25,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31334757],300826,ENSG00000101972,,Q8N3U4,Q8N3U4,HGNC:11355 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,TGIF1,,TGFB induced factor homeobox 1,gene with protein product,18p11.31,Disease-causing germline mutation(s) in,Assessed,,602630,ENSG00000177426,,Q15583,Q15583,HGNC:11776 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,,600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,NODAL,,nodal growth differentiation factor,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,,601265,ENSG00000156574,,Q96S42,Q96S42,HGNC:7865 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,GLI2,"[HPE9, THP1, THP2, tax helper protein 1, tax helper protein 2, tax-responsive element-2 holding protein]",GLI family zinc finger 2,gene with protein product,2q14.2,Disease-causing germline mutation(s) in,Assessed,,165230,ENSG00000074047,,P10070,P10070,HGNC:4318 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,FOXH1,[FAST1],forkhead box H1,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,,603621,ENSG00000160973,,O75593,O75593,HGNC:3814 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,STIL,[MCPH7],STIL centriolar assembly protein,gene with protein product,1p33,Disease-causing germline mutation(s) in,Assessed,[PMID:29785796],181590,ENSG00000123473,,Q15468,Q15468,HGNC:10879 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,ZIC2,"[HPE5, Zinc finger protein of the cerebellum 2]",Zic family member 2,gene with protein product,13q32.3,Disease-causing germline mutation(s) in,Assessed,,603073,ENSG00000043355,,O95409,,HGNC:12873 +GARD:0016831,Orphanet,93925,ORPHA:93925,16,DISP1,"[DISPA, DKFZP434I0428, MGC13130, MGC16796]",dispatched RND transporter family member 1,gene with protein product,1q41,Disease-causing germline mutation(s) in,Assessed,,607502,ENSG00000154309,,Q96F81,,HGNC:19711 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,TDGF1,"[CR, CR-1, CRIPTO, Cripto-1]",teratocarcinoma-derived growth factor 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,,187395,ENSG00000241186,,P13385,P13385,HGNC:11701 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,PTCH1,[BCNS],patched 1,gene with protein product,9q22.32,Disease-causing germline mutation(s) in,Assessed,,601309,ENSG00000185920,,Q13635,Q13635,HGNC:9585 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,GAS1,[Growth arrest-specific gene-1],growth arrest specific 1,gene with protein product,9q21.33,Disease-causing germline mutation(s) in,Assessed,,139185,ENSG00000180447,,P54826,P54826,HGNC:4165 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,FGF8,"[AIGF, androgen-induced growth factor]",fibroblast growth factor 8,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,,600483,ENSG00000107831,,P55075,P55075,HGNC:3686 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,DLL1,,delta like canonical Notch ligand 1,gene with protein product,6q27,Disease-causing germline mutation(s) in,Assessed,,606582,ENSG00000198719,,O00548,O00548,HGNC:2908 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,SIX3,,SIX homeobox 3,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,,603714,ENSG00000138083,,O95343,O95343,HGNC:10889 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,CDON,"[CDO, CDON1, Ihog, ORCAM, cell adhesion molecule-related/down-regulated by oncogenes]","cell adhesion associated, oncogene regulated",gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,,608707,ENSG00000064309,,Q4KMG0,Q4KMG0,HGNC:17104 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,TGIF1,,TGFB induced factor homeobox 1,gene with protein product,18p11.31,Disease-causing germline mutation(s) in,Assessed,,602630,ENSG00000177426,,Q15583,Q15583,HGNC:11776 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,,600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,NODAL,,nodal growth differentiation factor,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,,601265,ENSG00000156574,,Q96S42,Q96S42,HGNC:7865 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,GLI2,"[HPE9, THP1, THP2, tax helper protein 1, tax helper protein 2, tax-responsive element-2 holding protein]",GLI family zinc finger 2,gene with protein product,2q14.2,Disease-causing germline mutation(s) in,Assessed,,165230,ENSG00000074047,,P10070,P10070,HGNC:4318 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,FOXH1,[FAST1],forkhead box H1,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,,603621,ENSG00000160973,,O75593,O75593,HGNC:3814 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,STIL,[MCPH7],STIL centriolar assembly protein,gene with protein product,1p33,Disease-causing germline mutation(s) in,Assessed,[PMID:29785796],181590,ENSG00000123473,,Q15468,Q15468,HGNC:10879 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,ZIC2,"[HPE5, Zinc finger protein of the cerebellum 2]",Zic family member 2,gene with protein product,13q32.3,Disease-causing germline mutation(s) in,Assessed,,603073,ENSG00000043355,,O95409,,HGNC:12873 +GARD:0016832,Orphanet,93926,ORPHA:93926,15,DISP1,"[DISPA, DKFZP434I0428, MGC13130, MGC16796]",dispatched RND transporter family member 1,gene with protein product,1q41,Disease-causing germline mutation(s) in,Assessed,,607502,ENSG00000154309,,Q96F81,,HGNC:19711 +GARD:0016834,Orphanet,93952,ORPHA:93952,1,ATP6AP2,"[APT6M8-9, ATP6M8-9, M8-9, PRR, RENR, V-ATPase M8.9 subunit, prorenin receptor, renin receptor]",ATPase H+ transporting accessory protein 2,gene with protein product,Xp11.4,Disease-causing germline mutation(s) in,Assessed,[PMID:15746149],300556,ENSG00000182220,,O75787,O75787,HGNC:18305 +GARD:0016836,Orphanet,94122,ORPHA:94122,1,ATCAY,"[BNIP-H, Cayman ataxia, caytaxin]",ATCAY kinesin light chain interacting caytaxin,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:14556008, PMID:20301317]",608179,ENSG00000167654,,Q86WG3,Q86WG3,HGNC:779 +GARD:0016837,Orphanet,94150,ORPHA:94150,1,RSPO4,[dJ824F16.3],R-spondin 4,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,[PMID:17914448],610573,ENSG00000101282,,Q2I0M5,Q2I0M5,HGNC:16175 +GARD:0016838,Orphanet,95232,ORPHA:95232,1,PAFAH1B1,"[LIS1, NudF, PAFAH, lissencephaly-1]",platelet activating factor acetylhydrolase 1b regulatory subunit 1,gene with protein product,17p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18285425],601545,ENSG00000007168,,P43034,P43034,HGNC:8574 +GARD:0016840,Orphanet,95706,ORPHA:95706,2,AR,"[AIS, HUMARA, Kennedy disease, NR3C4, SMAX1, testicular feminization]",androgen receptor,gene with protein product,Xq12,Candidate gene tested in,Not yet assessed,[PMID:24722170],313700,ENSG00000169083,628,P10275,P10275,HGNC:644 +GARD:0016840,Orphanet,95706,ORPHA:95706,2,MAMLD1,"[CG1, F18]",mastermind like domain containing 1,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:17086185],300120,ENSG00000013619,,Q13495,Q13495,HGNC:2568 +GARD:0016841,Orphanet,95712,ORPHA:95712,2,PAX8,,paired box 8,gene with protein product,2q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:25214233, PMID:25905381]",167415,ENSG00000125618,,Q06710,Q06710,HGNC:8622 +GARD:0016841,Orphanet,95712,ORPHA:95712,2,NKX2-5,"[CSX1, NKX2.5, NKX4-1, tinman (Drosophila) homolog, tinman paralog (Drosophila)]",NK2 homeobox 5,gene with protein product,5q34,Disease-causing germline mutation(s) in,Assessed,"[PMID:16418214, PMID:25905381]",600584,ENSG00000183072,,P52952,P52952,HGNC:2488 +GARD:0016842,Orphanet,95713,ORPHA:95713,6,NKX2-1,"[TTF-1, TTF1]",NK2 homeobox 1,gene with protein product,14q13.3,Candidate gene tested in,Not yet assessed,[PMID:28455095],600635,ENSG00000136352,,P43699,P43699,HGNC:11825 +GARD:0016842,Orphanet,95713,ORPHA:95713,6,PAX8,,paired box 8,gene with protein product,2q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25905381],167415,ENSG00000125618,,Q06710,Q06710,HGNC:8622 +GARD:0016842,Orphanet,95713,ORPHA:95713,6,FOXE1,"[HFKH4, TTF-2, thyroid transcription factor 2]",forkhead box E1,gene with protein product,9q22.33,Candidate gene tested in,Not yet assessed,[PMID:28455095],602617,ENSG00000178919,,O00358,,HGNC:3806 +GARD:0016842,Orphanet,95713,ORPHA:95713,6,TSHR,[LGR3],thyroid stimulating hormone receptor,gene with protein product,14q24-q31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:14725684],603372,ENSG00000165409,255,P16473,P16473,HGNC:12373 +GARD:0016842,Orphanet,95713,ORPHA:95713,6,SLC26A4,"[PDS, pendrin]",solute carrier family 26 member 4,gene with protein product,7q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24248179],605646,ENSG00000091137,1100,O43511,O43511,HGNC:8818 +GARD:0016842,Orphanet,95713,ORPHA:95713,6,NKX2-5,"[CSX1, NKX2.5, NKX4-1, tinman (Drosophila) homolog, tinman paralog (Drosophila)]",NK2 homeobox 5,gene with protein product,5q34,Disease-causing germline mutation(s) in,Assessed,"[PMID:16418214, PMID:25905381]",600584,ENSG00000183072,,P52952,P52952,HGNC:2488 +GARD:0016843,Orphanet,95716,ORPHA:95716,6,DUOXA2,,dual oxidase maturation factor 2,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20537182, PMID:21543982]",612772,ENSG00000140274,,Q1HG44,,HGNC:32698 +GARD:0016843,Orphanet,95716,ORPHA:95716,6,SLC5A5,[NIS],solute carrier family 5 member 5,gene with protein product,19p13.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20537182, PMID:21543982]",601843,ENSG00000105641,920,Q92911,Q92911,HGNC:11040 +GARD:0016843,Orphanet,95716,ORPHA:95716,6,TPO,[TPX],thyroid peroxidase,gene with protein product,2p25.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20537182, PMID:21543982]",606765,ENSG00000115705,2526,P07202,P07202,HGNC:12015 +GARD:0016843,Orphanet,95716,ORPHA:95716,6,TG,"[AITD3, TGN]",thyroglobulin,gene with protein product,8q24.22,Disease-causing germline mutation(s) in,Assessed,"[PMID:20537182, PMID:21543982]",188450,ENSG00000042832,,P01266,,HGNC:11764 +GARD:0016843,Orphanet,95716,ORPHA:95716,6,IYD,"[DEHAL1, dJ422F24.1]",iodotyrosine deiodinase,gene with protein product,6q25.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20537182, PMID:21543982]",612025,ENSG00000009765,2488,Q6PHW0,Q6PHW0,HGNC:21071 +GARD:0016843,Orphanet,95716,ORPHA:95716,6,DUOX2,"[LNOX2, NADH/NADPH thyroid oxidase p138-tox, NADPH oxidase/peroxidase DUOX2, NADPH thyroid oxidase 2, P138(TOX), P138-TOX, THOX2, dual oxidase-like domains 2, flavoprotein NADPH oxidase, nicotinamide adenine dinucleotide phosphate oxidase]",dual oxidase 2,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20537182, PMID:21543982]",606759,ENSG00000140279,2999,Q9NRD8,Q9NRD8,HGNC:13273 +GARD:0016846,Orphanet,96147,ORPHA:96147,1,EHMT1,"[Eu-HMTase1, FLJ12879, FLJ40292, KIAA1876, KMT1D, bA188C12.1]",euchromatic histone lysine methyltransferase 1,gene with protein product,9q34.3,Role in the phenotype of,Assessed,[PMID:20945554],607001,ENSG00000181090,2651,Q9H9B1,Q9H9B1,HGNC:24650 +GARD:0016848,Orphanet,96184,ORPHA:96184,3,DLK1,"[Delta1, FA1, Pref-1, ZOG, pG2]",delta like non-canonical Notch ligand 1,gene with protein product,14q32.2,Role in the phenotype of,Assessed,[PMID:18176563],176290,ENSG00000185559,,P80370,P80370,HGNC:2907 +GARD:0016848,Orphanet,96184,ORPHA:96184,3,RTL1,"[HUR1, MART1, Mar1, PEG11, SIRH2, Sushi-Ichi retrotransposon homolog 2, mammalian retrotransposon-derived 1, paternally expressed 11]",retrotransposon Gag like 1,gene with protein product,14q32.2,Role in the phenotype of,Assessed,[PMID:18176563],611896,ENSG00000254656,,A6NKG5,,HGNC:14665 +GARD:0016848,Orphanet,96184,ORPHA:96184,3,MEG3,"[GTL2, LINC00023, NCRNA00023, long intergenic non-protein coding RNA 23, non-protein coding RNA 23, onco-lncRNA-83]",maternally expressed 3,Non-coding RNA,14q32.2,Role in the phenotype of,Assessed,"[PMID:18176563, PMID:24801763]",605636,ENSG00000214548,,,,HGNC:14575 +GARD:0016851,Orphanet,96265,ORPHA:96265,1,LHCGR,"[LCGR, LGR2, LHR, ULG5]",luteinizing hormone/choriogonadotropin receptor,gene with protein product,2p16.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,,152790,ENSG00000138039,254,P22888,P22888,HGNC:6585 +GARD:0016852,Orphanet,96266,ORPHA:96266,1,LHCGR,"[LCGR, LGR2, LHR, ULG5]",luteinizing hormone/choriogonadotropin receptor,gene with protein product,2p16.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,,152790,ENSG00000138039,254,P22888,P22888,HGNC:6585 +GARD:0016854,Orphanet,97369,ORPHA:97369,4,REN,,renin,gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:16116425, PMID:22095942]",179820,ENSG00000143839,2413,P00797,P00797,HGNC:9958 +GARD:0016854,Orphanet,97369,ORPHA:97369,4,AGTR1,"[AG2S, AGTR1A, AT1, AT1B, AT2R1, AT2R1A, AT2R1B, HAT1R]",angiotensin II receptor type 1,gene with protein product,3q24,Disease-causing germline mutation(s) in,Assessed,"[PMID:16116425, PMID:22095942]",106165,ENSG00000144891,34,P30556,P30556,HGNC:336 +GARD:0016854,Orphanet,97369,ORPHA:97369,4,AGT,"[alpha-1 antiproteinase, antitrypsin]",angiotensinogen,gene with protein product,1q42.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:16116425, PMID:22095942]",106150,ENSG00000135744,,P01019,P01019,HGNC:333 +GARD:0016854,Orphanet,97369,ORPHA:97369,4,ACE,"[ACE1, CD143, peptidyl-dipeptidase A]",angiotensin I converting enzyme,gene with protein product,17q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:16116425, PMID:22095942]",106180,ENSG00000159640,1613,P12821,P12821,HGNC:2707 +GARD:0016856,Orphanet,98434,ORPHA:98434,2,VKORC1,,vitamin K epoxide reductase complex subunit 1,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:14765194],608547,ENSG00000167397,2645,Q9BQB6,Q9BQB6,HGNC:23663 +GARD:0016856,Orphanet,98434,ORPHA:98434,2,GGCX,"[VKCFD1, peptidyl-glutamate 4-carboxylase, vitamin K-dependent gamma-carboxylase]",gamma-glutamyl carboxylase,gene with protein product,2p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:16720838],137167,ENSG00000115486,1268,P38435,P38435,HGNC:4247 +GARD:0016859,Orphanet,98619,ORPHA:98619,3,LRPAP1,[HBP44],LDL receptor related protein associated protein 1,gene with protein product,4p16.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23830514],104225,ENSG00000163956,,P30533,P30533,HGNC:6701 +GARD:0016859,Orphanet,98619,ORPHA:98619,3,SCO2,[SCO1L],synthesis of cytochrome C oxidase 2,gene with protein product,22q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23643385],604272,ENSG00000284194,,O43819,O43819,HGNC:10604 +GARD:0016859,Orphanet,98619,ORPHA:98619,3,P3H2,"[FLJ10718, MLAT4, procollagen-proline 3-dioxygenase 2]",prolyl 3-hydroxylase 2,gene with protein product,3q28,Disease-causing germline mutation(s) in,Assessed,[PMID:21885030],610341,ENSG00000090530,,Q8IVL5,Q8IVL5,HGNC:19317 +GARD:0016860,Orphanet,98676,ORPHA:98676,4,ACO2,"[ACONM, aconitate hydratase, mitochondrial, mitochondrial aconitase]",aconitase 2,gene with protein product,22q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25351951],100850,ENSG00000100412,,Q99798,Q99798,HGNC:118 +GARD:0016860,Orphanet,98676,ORPHA:98676,4,RTN4IP1,[NIMP],reticulon 4 interacting protein 1,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,[PMID:26593267],610502,ENSG00000130347,,Q8WWV3,Q8WWV3,HGNC:18647 +GARD:0016860,Orphanet,98676,ORPHA:98676,4,YME1L1,[YME1L],YME1 like 1 ATPase,gene with protein product,10p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27495975],607472,ENSG00000136758,,Q96TA2,,HGNC:12843 +GARD:0016860,Orphanet,98676,ORPHA:98676,4,MCAT,"[FASN2C, MCT, MCT1, MT, NET62, [acyl-carrier-protein] S-malonyltransferase, fabD]",malonyl-CoA-acyl carrier protein transacylase,gene with protein product,22q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31915829],614479,ENSG00000100294,,Q8IVS2,Q8IVS2,HGNC:29622 +GARD:0016861,Orphanet,98754,ORPHA:98754,4,SNRPN,"[HCERN3, RT-LI, SM protein N, SM-D, SMN, SNRNP-N, SNURF-SNRPN, small nuclear ribonucleoprotein N, tissue-specific splicing protein]",small nuclear ribonucleoprotein polypeptide N,gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:20301505],182279,ENSG00000128739,,P63162,P63162,HGNC:11164 +GARD:0016861,Orphanet,98754,ORPHA:98754,4,NDN,"[HsT16328, PWCR, Prader-Willi syndrome chromosome region]","necdin, MAGE family member",gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:20301505],602117,ENSG00000182636,,Q99608,Q99608,HGNC:7675 +GARD:0016861,Orphanet,98754,ORPHA:98754,4,OCA2,"[BEY, BEY1, BEY2, EYCL, P-protein, melanocyte-specific transporter protein]",OCA2 melanosomal transmembrane protein,gene with protein product,15q12-q13.1,Role in the phenotype of,Assessed,[PMID:20301505],611409,ENSG00000104044,,Q04671,Q04671,HGNC:8101 +GARD:0016861,Orphanet,98754,ORPHA:98754,4,MAGEL2,[nM15],MAGE family member L2,gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:20301505],605283,ENSG00000254585,,Q9UJ55,Q9UJ55,HGNC:6814 +GARD:0016862,Orphanet,98791,ORPHA:98791,2,HBA2,[HBA-T2],hemoglobin subunit alpha 2,gene with protein product,16p13.3,Role in the phenotype of,Assessed,,141850,ENSG00000188536,,P69905,P69905,HGNC:4824 +GARD:0016862,Orphanet,98791,ORPHA:98791,2,HBA1,[HBA-T3],hemoglobin subunit alpha 1,gene with protein product,16p13.3,Role in the phenotype of,Assessed,,141800,ENSG00000206172,,P69905,P69905,HGNC:4823 +GARD:0016863,Orphanet,98835,ORPHA:98835,1,KMT2A,"[ALL-1, CXXC7, HRX, HTRX1, Histone-lysine N-methyltransferase 2A, MLL1A, TRX1]",lysine methyltransferase 2A,gene with protein product,11q23.3,Part of a fusion gene in,Assessed,[PMID:11579461],159555,ENSG00000118058,2688,Q03164,Q03164,HGNC:7132 +GARD:0016865,Orphanet,98853,ORPHA:98853,4,SYNE1,"[8B, ARCA1, CPG2, Enaptin, KIAA0796, MYNE1, Nesp1, Nesprin-1, SCAR8, SYNE-1B, dJ45H2.2, enaptin, myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1]",spectrin repeat containing nuclear envelope protein 1,gene with protein product,6q25.2,Disease-causing germline mutation(s) in,Not yet assessed,,608441,ENSG00000131018,,Q8NF91,Q8NF91,HGNC:17089 +GARD:0016865,Orphanet,98853,ORPHA:98853,4,SYNE2,"[DKFZP434H2235, KIAA1011, NUA, NUANCE, Nesp2, Nesprin-2, SYNE-2, nuclear envelope spectrin repeat-2, nucleus and actin connecting element]",spectrin repeat containing nuclear envelope protein 2,gene with protein product,14q23.2,Disease-causing germline mutation(s) in,Not yet assessed,,608442,ENSG00000054654,,Q8WXH0,Q8WXH0,HGNC:17084 +GARD:0016865,Orphanet,98853,ORPHA:98853,4,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,,150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0016865,Orphanet,98853,ORPHA:98853,4,TMEM43,"[DKFZp586G1919, LUMA, MGC3222]",transmembrane protein 43,gene with protein product,3p25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21391237],612048,ENSG00000170876,,Q9BTV4,Q9BTV4,HGNC:28472 +GARD:0016866,Orphanet,98855,ORPHA:98855,1,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,,150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0016867,Orphanet,98868,ORPHA:98868,1,SLC4A1,"[CD233, FR, Froese blood group, RTA1A, SW, Swann blood group, WR, Wright blood group]",solute carrier family 4 member 1 (Diego blood group),gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:23339107, PMID:23664421]",109270,ENSG00000004939,904,P02730,P02730,HGNC:11027 +GARD:0016869,Orphanet,98904,ORPHA:98904,1,ACTA1,"[NEM3, nemaline myopathy type 3]","actin alpha 1, skeletal muscle",gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,[PMID:10508519],102610,ENSG00000143632,,P68133,P68133,HGNC:129 +GARD:0016870,Orphanet,98909,ORPHA:98909,1,DES,"[CMD1I, CSM1, CSM2, intermediate filament protein]",desmin,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:11668632],125660,ENSG00000175084,,P17661,P17661,HGNC:2770 +GARD:0016871,Orphanet,98911,ORPHA:98911,1,MYOT,,myotilin,gene with protein product,5q31.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15111675, PMID:16793270, PMID:21361873]",604103,ENSG00000120729,,Q9UBF9,Q9UBF9,HGNC:12399 +GARD:0016872,Orphanet,98915,ORPHA:98915,2,COLQ,"[AChE Q subunit, EAD, acetylcholinesterase-associated collagen, collagenic tail of endplate acetylcholinesterase, single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase]",collagen like tail subunit of asymmetric acetylcholinesterase,gene with protein product,3p25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301347],603033,ENSG00000206561,,Q9Y215,,HGNC:2226 +GARD:0016872,Orphanet,98915,ORPHA:98915,2,LAMB2,"[NPHS5, laminin S]",laminin subunit beta 2,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:19251977, PMID:25792100]",150325,ENSG00000172037,,P55268,P55268,HGNC:6487 +GARD:0016873,Orphanet,98916,ORPHA:98916,1,PMP22,"[GAS3, HMSNIA, HNPP, Sp110]",peripheral myelin protein 22,gene with protein product,17p12,Major susceptibility factor in,Assessed,[PMID:12439896],601097,ENSG00000109099,,Q01453,Q01453,HGNC:9118 +GARD:0016874,Orphanet,98934,ORPHA:98934,1,JPH3,"[CAGL237, HDL2, JP-3, JP3]",junctophilin 3,gene with protein product,16q24.2,Disease-causing germline mutation(s) in,Assessed,,605268,ENSG00000154118,,Q8WXH2,,HGNC:14203 +GARD:0016875,Orphanet,98942,ORPHA:98942,5,PAX6,"[AN, Aniridia 1, Aniridia 2, D11S812E, WAGR, aniridia, keratitis]",paired box 6,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:12721955, PMID:16604056]",607108,ENSG00000007372,,P26367,P26367,HGNC:8620 +GARD:0016875,Orphanet,98942,ORPHA:98942,5,ACTG1,,actin gamma 1,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28493397],102560,ENSG00000184009,,P63261,P63261,HGNC:144 +GARD:0016875,Orphanet,98942,ORPHA:98942,5,SALL2,"[Hsal2, KIAA0360, ZNF795]",spalt like transcription factor 2,gene with protein product,14q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24412933],602219,ENSG00000165821,,Q9Y467,Q9Y467,HGNC:10526 +GARD:0016875,Orphanet,98942,ORPHA:98942,5,FZD5,"[DKFZP434E2135, HFZ5]",frizzled class receptor 5,gene with protein product,2q33.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26908622],601723,ENSG00000163251,233,Q13467,Q13467,HGNC:4043 +GARD:0016875,Orphanet,98942,ORPHA:98942,5,ABCB6,"[ATP-binding cassette half-transporter, EST45597, MTABC3, umat]",ATP binding cassette subfamily B member 6 (Langereis blood group),gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:22226084],605452,ENSG00000115657,773,Q9NP58,Q9NP58,HGNC:47 +GARD:0016876,Orphanet,98949,ORPHA:98949,1,FREM2,[DKFZp686J0811],FRAS1 related extracellular matrix 2,gene with protein product,13q13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29688405],608945,ENSG00000150893,,Q5SZK8,,HGNC:25396 +GARD:0016879,Orphanet,98970,ORPHA:98970,1,PIKFYVE,"[FAB1, KIAA0981, MGC40423, PIKfyve, PIP5K, ZFYVE29, p235, zinc finger, FYVE domain containing 29]","phosphoinositide kinase, FYVE-type zinc finger containing",gene with protein product,2q34,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22065932, PMID:26396486]",609414,ENSG00000115020,2857,Q9Y2I7,Q9Y2I7,HGNC:23785 +GARD:0016882,Orphanet,98973,ORPHA:98973,5,GRHL2,"[BOM, FLJ13782, brother-of-MGR]",grainyhead like transcription factor 2,gene with protein product,8q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29499165],608576,ENSG00000083307,,Q6ISB3,Q6ISB3,HGNC:2799 +GARD:0016882,Orphanet,98973,ORPHA:98973,5,COL8A2,"[FECD1, PPCD, PPCD2]",collagen type VIII alpha 2 chain,gene with protein product,1p34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11689488],120252,ENSG00000171812,,P25067,P25067,HGNC:2216 +GARD:0016882,Orphanet,98973,ORPHA:98973,5,OVOL2,"[CHED, HOVO2, bA504H3.3]",ovo like zinc finger 2,gene with protein product,20p11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:26749309],616441,ENSG00000125850,,Q9BRP0,,HGNC:15804 +GARD:0016882,Orphanet,98973,ORPHA:98973,5,VSX1,"[PPCD1, PPD]",visual system homeobox 1,gene with protein product,20p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:11978762],605020,ENSG00000100987,,Q9NZR4,,HGNC:12723 +GARD:0016882,Orphanet,98973,ORPHA:98973,5,ZEB1,"[AREB6, BZP, FECD6, NIL-2-A, ZEB, Zfhep, Zfhx1a]",zinc finger E-box binding homeobox 1,gene with protein product,10p11.22,Disease-causing germline mutation(s) in,Assessed,"[PMID:23807282, PMID:25441224]",189909,ENSG00000148516,,P37275,P37275,HGNC:11642 +GARD:0016883,Orphanet,98977,ORPHA:98977,2,MYOC,"[JOAG1, TIGR, juvenile-onset open-angle glaucoma 1, trabecular meshwork inducible glucocorticoid response protein]",myocilin,gene with protein product,1q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21730848],601652,ENSG00000034971,,Q99972,,HGNC:7610 +GARD:0016883,Orphanet,98977,ORPHA:98977,2,CYP1B1,[CP1B],cytochrome P450 family 1 subfamily B member 1,gene with protein product,2p22.2,Major susceptibility factor in,Assessed,"[PMID:19643970, PMID:22878448]",601771,ENSG00000138061,1320,Q16678,Q16678,HGNC:2597 +GARD:0016884,Orphanet,98984,ORPHA:98984,9,CRYGC,,crystallin gamma C,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:10914683, PMID:23954869]",123680,ENSG00000163254,,P07315,,HGNC:2410 +GARD:0016884,Orphanet,98984,ORPHA:98984,9,CRYGD,,crystallin gamma D,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21866214],123690,ENSG00000118231,,P07320,,HGNC:2411 +GARD:0016884,Orphanet,98984,ORPHA:98984,9,BFSP2,"[CP47, CP49, LIFL-L, phakinin]",beaded filament structural protein 2,gene with protein product,3q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24654948],603212,ENSG00000170819,,Q13515,Q13515,HGNC:1041 +GARD:0016884,Orphanet,98984,ORPHA:98984,9,MAF,[c-MAF],MAF bZIP transcription factor,gene with protein product,16q23.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:11772997, PMID:12642301]",177075,ENSG00000178573,,O75444,,HGNC:6776 +GARD:0016884,Orphanet,98984,ORPHA:98984,9,CRYBB1,,crystallin beta B1,gene with protein product,22q12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:12360425, PMID:19461930, PMID:22267527]",600929,ENSG00000100122,,P53674,P53674,HGNC:2397 +GARD:0016884,Orphanet,98984,ORPHA:98984,9,VIM,,vimentin,gene with protein product,10p13,Disease-causing germline mutation(s) in,Assessed,[PMID:19126778],193060,ENSG00000026025,,P08670,P08670,HGNC:12692 +GARD:0016884,Orphanet,98984,ORPHA:98984,9,GJA8,"[CX50, connexin 50]",gap junction protein alpha 8,gene with protein product,1q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18006672],600897,ENSG00000121634,732,P48165,P48165,HGNC:4281 +GARD:0016884,Orphanet,98984,ORPHA:98984,9,CRYBB2,,crystallin beta B2,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:10634616],123620,ENSG00000244752,,P43320,,HGNC:2398 +GARD:0016884,Orphanet,98984,ORPHA:98984,9,GJA3,"[CX46, connexin 46]",gap junction protein alpha 3,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,[PMID:22876138],121015,ENSG00000121743,730,Q9Y6H8,Q9Y6H8,HGNC:4277 +GARD:0016885,Orphanet,98985,ORPHA:98985,6,CRYBA1,[eye lens structural protein],crystallin beta A1,gene with protein product,17q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:9788845],123610,ENSG00000108255,,P05813,P05813,HGNC:2394 +GARD:0016885,Orphanet,98985,ORPHA:98985,6,BFSP2,"[CP47, CP49, LIFL-L, phakinin]",beaded filament structural protein 2,gene with protein product,3q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17200662],603212,ENSG00000170819,,Q13515,Q13515,HGNC:1041 +GARD:0016885,Orphanet,98985,ORPHA:98985,6,GJA8,"[CX50, connexin 50]",gap junction protein alpha 8,gene with protein product,1q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18587493],600897,ENSG00000121634,732,P48165,P48165,HGNC:4281 +GARD:0016885,Orphanet,98985,ORPHA:98985,6,CRYGS,"[crystallin, gamma 8]",crystallin gamma S,gene with protein product,3q27.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:16141006, PMID:18587492]",123730,ENSG00000213139,,P22914,,HGNC:2417 +GARD:0016885,Orphanet,98985,ORPHA:98985,6,MIP,"[AQP0, LIM1, MP26, aquaporin 0]",major intrinsic protein of lens fiber,gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20361015, PMID:24405844]",154050,ENSG00000135517,687,P30301,P30301,HGNC:7103 +GARD:0016885,Orphanet,98985,ORPHA:98985,6,CRYBB2,,crystallin beta B2,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:11424921],123620,ENSG00000244752,,P43320,,HGNC:2398 +GARD:0016886,Orphanet,98990,ORPHA:98990,1,CRYGD,,crystallin gamma D,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:18334953, PMID:21552497]",123690,ENSG00000118231,,P07320,,HGNC:2411 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,CRYGD,,crystallin gamma D,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21031598, PMID:24384146, PMID:26147294]",123690,ENSG00000118231,,P07320,,HGNC:2411 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,CRYGC,,crystallin gamma C,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:18618005, PMID:24384146]",123680,ENSG00000163254,,P07315,,HGNC:2410 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,CRYAB,[HSPB5],crystallin alpha B,gene with protein product,11q23.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:19597569, PMID:24384146, PMID:26622071]",123590,ENSG00000109846,,P02511,P02511,HGNC:2389 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,NHS,,NHS actin remodeling regulator,gene with protein product,Xp22.2-p22.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:19414485, PMID:24384146, PMID:24968223]",300457,ENSG00000188158,,Q6T4R5,,HGNC:7820 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,CRYBA2,,crystallin beta A2,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:23508780],600836,ENSG00000163499,,P53672,P53672,HGNC:2395 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,UNC45B,[UNC45],unc-45 myosin chaperone B,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:24549050],611220,ENSG00000141161,,Q8IWX7,Q8IWX7,HGNC:14304 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,EPHA2,,EPH receptor A2,gene with protein product,1p36.13,Disease-causing germline mutation(s) in,Assessed,[PMID:24014202],176946,ENSG00000142627,1822,P29317,P29317,HGNC:3386 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,CRYBA1,[eye lens structural protein],crystallin beta A1,gene with protein product,17q11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21686330, PMID:24384146]",123610,ENSG00000108255,,P05813,P05813,HGNC:2394 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,CRYBB3,,crystallin beta B3,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,"[PMID:15914629, PMID:23508780]",123630,ENSG00000100053,,P26998,,HGNC:2400 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,FYCO1,"[FLJ13335, ZFYVE7]",FYVE and coiled-coil domain autophagy adaptor 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:21636066, PMID:24384146]",607182,ENSG00000163820,,Q9BQS8,Q9BQS8,HGNC:14673 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,BFSP1,"[CP115, CP94, Filensin, LIFL-H, filensin]",beaded filament structural protein 1,gene with protein product,20p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24379646],603307,ENSG00000125864,,Q12934,,HGNC:1040 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,CRYBB1,,crystallin beta B1,gene with protein product,22q12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17460281, PMID:18432316, PMID:24384146]",600929,ENSG00000100122,,P53674,P53674,HGNC:2397 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,MIP,"[AQP0, LIM1, MP26, aquaporin 0]",major intrinsic protein of lens fiber,gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21245956, PMID:21647270, PMID:24384146]",154050,ENSG00000135517,687,P30301,P30301,HGNC:7103 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,CRYAA,[HSPB4],crystallin alpha A,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19390652, PMID:24074001, PMID:24384146]",123580,ENSG00000160202,,P02489,,HGNC:2388 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,GJA8,"[CX50, connexin 50]",gap junction protein alpha 8,gene with protein product,1q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:14627691, PMID:24384146]",600897,ENSG00000121634,732,P48165,P48165,HGNC:4281 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,WFS1,"[DIDMOAD, WFS]",wolframin ER transmembrane glycoprotein,gene with protein product,4p16.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23531866],606201,ENSG00000109501,,O76024,O76024,HGNC:12762 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,CRYBB2,,crystallin beta B2,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,"[PMID:19649175, PMID:24384146]",123620,ENSG00000244752,,P43320,,HGNC:2398 +GARD:0016887,Orphanet,98991,ORPHA:98991,18,GJA3,"[CX46, connexin 46]",gap junction protein alpha 3,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:16234473, PMID:20431721, PMID:21552498]",121015,ENSG00000121743,730,Q9Y6H8,Q9Y6H8,HGNC:4277 +GARD:0016889,Orphanet,98993,ORPHA:98993,8,PANK4,[FLJ10782],pantothenate kinase 4 (inactive),gene with protein product,1p36.32,Disease-causing germline mutation(s) in,Assessed,[PMID:30585370],606162,ENSG00000157881,,Q9NVE7,Q9NVE7,HGNC:19366 +GARD:0016889,Orphanet,98993,ORPHA:98993,8,CRYAB,[HSPB5],crystallin alpha B,gene with protein product,11q23.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:16877416, PMID:25195561]",123590,ENSG00000109846,,P02511,P02511,HGNC:2389 +GARD:0016889,Orphanet,98993,ORPHA:98993,8,CHMP4B,"[SNF7-2, Shax1, VPS32B, dJ553F4.4]",charged multivesicular body protein 4B,gene with protein product,20q11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:17701905],610897,ENSG00000101421,,Q9H444,Q9H444,HGNC:16171 +GARD:0016889,Orphanet,98993,ORPHA:98993,8,EPHA2,,EPH receptor A2,gene with protein product,1p36.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:19306328, PMID:23447127]",176946,ENSG00000142627,1822,P29317,P29317,HGNC:3386 +GARD:0016889,Orphanet,98993,ORPHA:98993,8,CRYBA1,[eye lens structural protein],crystallin beta A1,gene with protein product,17q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20142846],123610,ENSG00000108255,,P05813,P05813,HGNC:2394 +GARD:0016889,Orphanet,98993,ORPHA:98993,8,MIP,"[AQP0, LIM1, MP26, aquaporin 0]",major intrinsic protein of lens fiber,gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25803033],154050,ENSG00000135517,687,P30301,P30301,HGNC:7103 +GARD:0016889,Orphanet,98993,ORPHA:98993,8,PITX3,,paired like homeodomain 3,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:16636655, PMID:21633712]",602669,ENSG00000107859,,O75364,,HGNC:9006 +GARD:0016889,Orphanet,98993,ORPHA:98993,8,GJA3,"[CX46, connexin 46]",gap junction protein alpha 3,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,[PMID:21031021],121015,ENSG00000121743,730,Q9Y6H8,Q9Y6H8,HGNC:4277 +GARD:0016890,Orphanet,99001,ORPHA:99001,3,PRPH2,"[CACD2, TSPAN22, rd2, retinal peripherin]",peripherin 2,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:8485574],179605,ENSG00000112619,,P23942,,HGNC:9942 +GARD:0016890,Orphanet,99001,ORPHA:99001,3,OTX2,,orthodenticle homeobox 2,gene with protein product,14q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25293953],600037,ENSG00000165588,,P32243,,HGNC:8522 +GARD:0016890,Orphanet,99001,ORPHA:99001,3,CTNNA1,"[CAP102, alpha-E-catenin]",catenin alpha 1,gene with protein product,5q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26691986],116805,ENSG00000044115,,P35221,P35221,HGNC:2509 +GARD:0016891,Orphanet,99002,ORPHA:99002,1,RCBTB1,"[CLLD7, CLLL7, FLJ10716]",RCC1 and BTB domain containing protein 1,gene with protein product,13q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27486781],607867,ENSG00000136144,,Q8NDN9,,HGNC:18243 +GARD:0016893,Orphanet,99067,ORPHA:99067,4,NR2F2,"[COUP transcription factor II, COUP-TFII, COUPTF2, COUPTFB, NF-E3, SVP40]",nuclear receptor subfamily 2 group F member 2,gene with protein product,15q26.2,Major susceptibility factor in,Assessed,[PMID:24702954],107773,ENSG00000185551,618,P24468,P24468,HGNC:7976 +GARD:0016893,Orphanet,99067,ORPHA:99067,4,CRELD1,[CIRRIN],cysteine rich with EGF like domains 1,gene with protein product,3p25.3,Major susceptibility factor in,Assessed,"[PMID:12632326, PMID:15096951]",607170,ENSG00000163703,,Q96HD1,,HGNC:14630 +GARD:0016893,Orphanet,99067,ORPHA:99067,4,GATA4,,GATA binding protein 4,gene with protein product,8p23.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17643447, PMID:18672102]",600576,ENSG00000136574,,P43694,P43694,HGNC:4173 +GARD:0016893,Orphanet,99067,ORPHA:99067,4,GATA6,,GATA binding protein 6,gene with protein product,18q11.2,Disease-causing germline mutation(s) in,Not yet assessed,[PMID:20581743],601656,ENSG00000141448,,Q92908,Q92908,HGNC:4174 +GARD:0016894,Orphanet,99068,ORPHA:99068,3,NR2F2,"[COUP transcription factor II, COUP-TFII, COUPTF2, COUPTFB, NF-E3, SVP40]",nuclear receptor subfamily 2 group F member 2,gene with protein product,15q26.2,Major susceptibility factor in,Assessed,[PMID:24702954],107773,ENSG00000185551,618,P24468,P24468,HGNC:7976 +GARD:0016894,Orphanet,99068,ORPHA:99068,3,CRELD1,[CIRRIN],cysteine rich with EGF like domains 1,gene with protein product,3p25.3,Major susceptibility factor in,Assessed,"[PMID:12632326, PMID:15096951]",607170,ENSG00000163703,,Q96HD1,,HGNC:14630 +GARD:0016894,Orphanet,99068,ORPHA:99068,3,GATA4,,GATA binding protein 4,gene with protein product,8p23.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17643447, PMID:18672102]",600576,ENSG00000136574,,P43694,P43694,HGNC:4173 +GARD:0016898,Orphanet,99141,ORPHA:99141,1,PTPN14,"[PEZ, PTPD2]",protein tyrosine phosphatase non-receptor type 14,gene with protein product,1q32.3-q41,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20826270],603155,ENSG00000152104,,Q15678,Q15678,HGNC:9647 +GARD:0016901,Orphanet,99361,ORPHA:99361,3,RET,"[CDHF12, CDHR16, PTC, RET receptor tyrosine kinase, RET51, cadherin-related family member 16, rearranged during transfection]",ret proto-oncogene,gene with protein product,10q11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:10443680, PMID:20301434, PMID:20833330]",164761,ENSG00000165731,2185,P07949,P07949,HGNC:9967 +GARD:0016901,Orphanet,99361,ORPHA:99361,3,NTRK1,"[MTC, TRK, TRKA, high affinity nerve growth factor receptor]",neurotrophic receptor tyrosine kinase 1,gene with protein product,1q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:10443680],191315,ENSG00000198400,1817,P04629,P04629,HGNC:8031 +GARD:0016901,Orphanet,99361,ORPHA:99361,3,ESR2,"[ER beta, ER-beta, Erb, NR3A2, estrogen receptor beta, nuclear receptor subfamily 3 group A member 2, oestrogen receptor beta]",estrogen receptor 2,gene with protein product,14q23.2-q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26945007],601663,ENSG00000140009,621,Q92731,Q92731,HGNC:3468 +GARD:0016902,Orphanet,99646,ORPHA:99646,1,IDH1,,isocitrate dehydrogenase (NADP(+)) 1,gene with protein product,2q34,Disease-causing somatic mutation(s) in,Assessed,[PMID:22025298],147700,ENSG00000138413,2884,O75874,O75874,HGNC:5382 +GARD:0016904,Orphanet,99734,ORPHA:99734,1,SCN4A,"[HYPP, Nav1.4, SkM1]",sodium voltage-gated channel alpha subunit 4,gene with protein product,17q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:7980103, PMID:8308722]",603967,ENSG00000007314,581,P35499,P35499,HGNC:10591 +GARD:0016905,Orphanet,99735,ORPHA:99735,1,SCN4A,"[HYPP, Nav1.4, SkM1]",sodium voltage-gated channel alpha subunit 4,gene with protein product,17q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:8308722],603967,ENSG00000007314,581,P35499,P35499,HGNC:10591 +GARD:0016906,Orphanet,99736,ORPHA:99736,1,SCN4A,"[HYPP, Nav1.4, SkM1]",sodium voltage-gated channel alpha subunit 4,gene with protein product,17q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:8058156],603967,ENSG00000007314,581,P35499,P35499,HGNC:10591 +GARD:0016907,Orphanet,99772,ORPHA:99772,2,UBB,"[FLJ25987, MGC8385, polyubiquitin B]",ubiquitin B,gene with protein product,17p11.2,Candidate gene tested in,Not yet assessed,[PMID:17468296],191339,ENSG00000170315,,P0CG47,P0CG47,HGNC:12463 +GARD:0016907,Orphanet,99772,ORPHA:99772,2,GRHL3,"[SOM, sister-of-mammalian grainyhead]",grainyhead like transcription factor 3,gene with protein product,1p36.11,Major susceptibility factor in,Assessed,"[PMID:27018472, PMID:27018475]",608317,ENSG00000158055,,Q8TE85,Q8TE85,HGNC:25839 +GARD:0016908,Orphanet,99798,ORPHA:99798,12,WNT10A,,Wnt family member 10A,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,,606268,ENSG00000135925,,Q9GZT5,Q9GZT5,HGNC:13829 +GARD:0016908,Orphanet,99798,ORPHA:99798,12,AXIN2,"[DKFZp781B0869, MGC126582, axil, conductin]",axin 2,gene with protein product,17q24.1,Disease-causing germline mutation(s) in,Assessed,,604025,ENSG00000168646,,Q9Y2T1,Q9Y2T1,HGNC:904 +GARD:0016908,Orphanet,99798,ORPHA:99798,12,PAX9,,paired box 9,gene with protein product,14q13.3,Disease-causing germline mutation(s) in,Assessed,,167416,ENSG00000198807,,P55771,P55771,HGNC:8623 +GARD:0016908,Orphanet,99798,ORPHA:99798,12,MSX1,"[HYD1, OFC5]",msh homeobox 1,gene with protein product,4p16.2,Disease-causing germline mutation(s) in,Assessed,,142983,ENSG00000163132,,P28360,,HGNC:7391 +GARD:0016908,Orphanet,99798,ORPHA:99798,12,EDA,"[ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, HED, XHED, XLHED]",ectodysplasin A,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,,300451,ENSG00000158813,,Q92838,Q92838,HGNC:3157 +GARD:0016908,Orphanet,99798,ORPHA:99798,12,TGFA,,transforming growth factor alpha,gene with protein product,2p13.3,Disease-causing germline mutation(s) in,Assessed,,190170,ENSG00000163235,,P01135,P01135,HGNC:11765 +GARD:0016908,Orphanet,99798,ORPHA:99798,12,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Disease-causing germline mutation(s) in,Assessed,,136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0016908,Orphanet,99798,ORPHA:99798,12,LRP6,[ADCAD2],LDL receptor related protein 6,gene with protein product,12p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26387593],603507,ENSG00000070018,,O75581,O75581,HGNC:6698 +GARD:0016908,Orphanet,99798,ORPHA:99798,12,WNT10B,"[SHFM6, WNT-12]",Wnt family member 10B,gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:27321946],601906,ENSG00000169884,,O00744,O00744,HGNC:12775 +GARD:0016908,Orphanet,99798,ORPHA:99798,12,SUMO1,"[GMP1, OFC10, PIC1, SMT3C, SMT3H3, SUMO-1]",small ubiquitin like modifier 1,gene with protein product,2q33.1,Candidate gene tested in,Not yet assessed,,601912,ENSG00000116030,,P63165,P63165,HGNC:12502 +GARD:0016908,Orphanet,99798,ORPHA:99798,12,IRF6,"[OFC6, VWS1]",interferon regulatory factor 6,gene with protein product,1q32.2,Disease-causing germline mutation(s) in,Assessed,,607199,ENSG00000117595,,O14896,O14896,HGNC:6121 +GARD:0016908,Orphanet,99798,ORPHA:99798,12,EDARADD,,EDAR associated death domain,gene with protein product,1q42.3-q43,Disease-causing germline mutation(s) in,Assessed,,606603,ENSG00000186197,,Q8WWZ3,Q8WWZ3,HGNC:14341 +GARD:0016909,Orphanet,99803,ORPHA:99803,3,ASCL1,"[ASH1, HASH1, bHLHa46]",achaete-scute family bHLH transcription factor 1,gene with protein product,12q23.2,Disease-causing germline mutation(s) in,Assessed,,100790,ENSG00000139352,,P50553,P50553,HGNC:738 +GARD:0016909,Orphanet,99803,ORPHA:99803,3,RET,"[CDHF12, CDHR16, PTC, RET receptor tyrosine kinase, RET51, cadherin-related family member 16, rearranged during transfection]",ret proto-oncogene,gene with protein product,10q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:9565426],164761,ENSG00000165731,2185,P07949,P07949,HGNC:9967 +GARD:0016909,Orphanet,99803,ORPHA:99803,3,PHOX2B,"[NBPhox, Phox2b]",paired like homeobox 2B,gene with protein product,4p13,Disease-causing germline mutation(s) in,Assessed,,603851,ENSG00000109132,,Q99453,,HGNC:9143 +GARD:0016910,Orphanet,99806,ORPHA:99806,2,FADD,"[Fas-associating death domain-containing protein, Fas-associating protein with death domain, GIG3, Growth-inhibiting gene 3 protein, MORT1, Mediator of receptor-induced toxicity, growth-inhibiting gene 3 protein, mediator of receptor-induced toxicity]",Fas associated via death domain,gene with protein product,11q13.3,Role in the phenotype of,Assessed,[PMID:17656375],602457,ENSG00000168040,,Q13158,Q13158,HGNC:3573 +GARD:0016910,Orphanet,99806,ORPHA:99806,2,FGF3,"[HBGF-3, INT-2 proto-oncogene protein, V-INT2 murine mammary tumor virus integration site oncogene homolog, murine mammary tumor virus integration site 2, mouse, oncogene INT2]",fibroblast growth factor 3,gene with protein product,11q13.3,Role in the phenotype of,Assessed,[PMID:17656375],164950,ENSG00000186895,,P11487,P11487,HGNC:3681 +GARD:0016911,Orphanet,99807,ORPHA:99807,1,CCDC88A,"[APE, Akt-phosphorylation enhancer, FLJ10392, GIV, GRDN, Galpha-interacting vesicle-associated protein, HkRP1, girders of actin filaments, girdin]",coiled-coil domain containing 88A,gene with protein product,2p16.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26917597],609736,ENSG00000115355,,Q3V6T2,,HGNC:25523 +GARD:0016912,Orphanet,99818,ORPHA:99818,1,APC,"[DP2, DP2.5, DP3, PPP1R46, protein phosphatase 1, regulatory subunit 46]",APC regulator of WNT signaling pathway,gene with protein product,5q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301519],611731,ENSG00000134982,,P25054,P25054,HGNC:583 +GARD:0016913,Orphanet,99819,ORPHA:99819,1,TSHR,[LGR3],thyroid stimulating hormone receptor,gene with protein product,14q24-q31,Disease-causing germline mutation(s) in,Assessed,[PMID:9854118],603372,ENSG00000165409,255,P16473,P16473,HGNC:12373 +GARD:0016914,Orphanet,99832,ORPHA:99832,1,TRHR,,thyrotropin releasing hormone receptor,gene with protein product,8q23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20537182, PMID:22851492]",188545,ENSG00000174417,363,P34981,P34981,HGNC:12299 +GARD:0016915,Orphanet,99844,ORPHA:99844,1,FERMT3,"[KIND3, MGC10966, MIG-2, MIG2B, UNC-112 related protein 2, UNC112C, URP2, kindlin-3]",FERM domain containing kindlin 3,gene with protein product,11q13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,,607901,ENSG00000149781,,Q86UX7,Q86UX7,HGNC:23151 +GARD:0016916,Orphanet,99845,ORPHA:99845,3,LPIN1,"[KIAA0188, phosphatidate phosphatase LPIN1]",lipin 1,gene with protein product,2p25.1,Disease-causing germline mutation(s) in,Assessed,,605518,ENSG00000134324,1435,Q14693,Q14693,HGNC:13345 +GARD:0016916,Orphanet,99845,ORPHA:99845,3,MT-CO3,"[CO3, COIII, COX3]",mitochondrially encoded cytochrome c oxidase III,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,,516050,ENSG00000198938,,P00414,P00414,HGNC:7422 +GARD:0016916,Orphanet,99845,ORPHA:99845,3,MT-CO1,"[COI, COX1]",mitochondrially encoded cytochrome c oxidase I,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,,516030,ENSG00000198804,,P00395,P00395,HGNC:7419 +GARD:0016918,Orphanet,99853,ORPHA:99853,6,EIF2B5,"[EIF-2B, EIF2Bepsilon]",eukaryotic translation initiation factor 2B subunit epsilon,gene with protein product,3q27.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15136673, PMID:20301435]",603945,ENSG00000145191,,Q13144,Q13144,HGNC:3261 +GARD:0016918,Orphanet,99853,ORPHA:99853,6,EIF2B3,"[EIF-2B, EIF2Bgamma]",eukaryotic translation initiation factor 2B subunit gamma,gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15136673, PMID:20301435]",606273,ENSG00000070785,,Q9NR50,Q9NR50,HGNC:3259 +GARD:0016918,Orphanet,99853,ORPHA:99853,6,EIF2B2,"[EIF-2Bbeta, EIF2B]",eukaryotic translation initiation factor 2B subunit beta,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15136673, PMID:20301435]",606454,ENSG00000119718,,P49770,P49770,HGNC:3258 +GARD:0016918,Orphanet,99853,ORPHA:99853,6,EIF2B1,"[EIF-2B, EIF-2Balpha, EIF2BA]",eukaryotic translation initiation factor 2B subunit alpha,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:15136673, PMID:20301435]",606686,ENSG00000111361,,Q14232,Q14232,HGNC:3257 +GARD:0016918,Orphanet,99853,ORPHA:99853,6,AARS2,"[KIAA1270, alanine tRNA ligase 2, mitochondrial, bA444E17.1]","alanyl-tRNA synthetase 2, mitochondrial",gene with protein product,6p21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24808023],612035,ENSG00000124608,,Q5JTZ9,Q5JTZ9,HGNC:21022 +GARD:0016918,Orphanet,99853,ORPHA:99853,6,EIF2B4,"[DKFZP586J0119, EIF-2B, EIF2B, EIF2Bdelta]",eukaryotic translation initiation factor 2B subunit delta,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15136673, PMID:20301435]",606687,ENSG00000115211,,Q9UI10,Q9UI10,HGNC:3260 +GARD:0016919,Orphanet,99854,ORPHA:99854,5,EIF2B5,"[EIF-2B, EIF2Bepsilon]",eukaryotic translation initiation factor 2B subunit epsilon,gene with protein product,3q27.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15136673, PMID:20301435]",603945,ENSG00000145191,,Q13144,Q13144,HGNC:3261 +GARD:0016919,Orphanet,99854,ORPHA:99854,5,EIF2B3,"[EIF-2B, EIF2Bgamma]",eukaryotic translation initiation factor 2B subunit gamma,gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15136673, PMID:20301435]",606273,ENSG00000070785,,Q9NR50,Q9NR50,HGNC:3259 +GARD:0016919,Orphanet,99854,ORPHA:99854,5,EIF2B2,"[EIF-2Bbeta, EIF2B]",eukaryotic translation initiation factor 2B subunit beta,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15136673, PMID:20301435]",606454,ENSG00000119718,,P49770,P49770,HGNC:3258 +GARD:0016919,Orphanet,99854,ORPHA:99854,5,EIF2B1,"[EIF-2B, EIF-2Balpha, EIF2BA]",eukaryotic translation initiation factor 2B subunit alpha,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:15136673, PMID:20301435]",606686,ENSG00000111361,,Q14232,Q14232,HGNC:3257 +GARD:0016919,Orphanet,99854,ORPHA:99854,5,EIF2B4,"[DKFZP586J0119, EIF-2B, EIF2B, EIF2Bdelta]",eukaryotic translation initiation factor 2B subunit delta,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15136673, PMID:20301435]",606687,ENSG00000115211,,Q9UI10,Q9UI10,HGNC:3260 +GARD:0016920,Orphanet,99860,ORPHA:99860,3,CEP72,"[FLJ10565, KIAA1519]",centrosomal protein 72,gene with protein product,5p15.33,Candidate gene tested in,Not yet assessed,,616475,ENSG00000112877,,Q9P209,Q9P209,HGNC:25547 +GARD:0016920,Orphanet,99860,ORPHA:99860,3,NUDT15,"[FLJ10956, MTH2]",nudix hydrolase 15,gene with protein product,13q14.2,Candidate gene tested in,Not yet assessed,,615792,ENSG00000136159,,Q9NV35,Q9NV35,HGNC:23063 +GARD:0016920,Orphanet,99860,ORPHA:99860,3,CYP2C19,"[CPCJ, P450IIC19]",cytochrome P450 family 2 subfamily C member 19,gene with protein product,10q23.33,Candidate gene tested in,Not yet assessed,,124020,ENSG00000165841,1328,P33261,P33261,HGNC:2621 +GARD:0016923,Orphanet,99879,ORPHA:99879,3,GCM2,[hGCMb],glial cells missing transcription factor 2,gene with protein product,6p24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27745835],603716,ENSG00000124827,,O75603,O75603,HGNC:4198 +GARD:0016923,Orphanet,99879,ORPHA:99879,3,MEN1,[menin],menin 1,gene with protein product,11q13,Disease-causing germline mutation(s) in,Assessed,"[PMID:10664521, PMID:12699448, PMID:9792884]",613733,ENSG00000133895,,O00255,O00255,HGNC:7010 +GARD:0016923,Orphanet,99879,ORPHA:99879,3,CDC73,"[FIHP, Paf1/RNA polymerase II complex component, parafibromin]",cell division cycle 73,gene with protein product,1q31.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15531515, PMID:20301744]",607393,ENSG00000134371,,Q6P1J9,Q6P1J9,HGNC:16783 +GARD:0016925,Orphanet,99947,ORPHA:99947,1,MFN2,"[CMT2A2, CPRP1, KIAA0214, MARF]",mitofusin 2,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],608507,ENSG00000116688,3131,O95140,O95140,HGNC:16877 +GARD:0016926,Orphanet,99966,ORPHA:99966,1,SMARCB1,"[BAF47, Ini1, PPP1R144, RDT, SNF5, Sfh1p, Snr1, hSNFS, integrase interactor 1, malignant rhabdoid tumor suppressor, protein phosphatase 1, regulatory subunit 144, sucrose nonfermenting, yeast, homolog-like 1]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1",gene with protein product,22q11.23,Disease-causing somatic mutation(s) in,Assessed,,601607,ENSG00000099956,,Q12824,Q12824,HGNC:11103 +GARD:0016929,Orphanet,100006,ORPHA:100006,1,APP,"[alpha-sAPP, peptidase nexin-II]",amyloid beta precursor protein,gene with protein product,21q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24870607],104760,ENSG00000142192,,P05067,P05067,HGNC:620 +GARD:0016930,Orphanet,100008,ORPHA:100008,1,CST3,,cystatin C,gene with protein product,20p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:2541223],604312,ENSG00000101439,,P01034,P01034,HGNC:2475 +GARD:0016931,Orphanet,100032,ORPHA:100032,4,SLC24A4,[NCKX4],solute carrier family 24 member 4,gene with protein product,14q32.12,Disease-causing germline mutation(s) in,Assessed,[PMID:23375655],609840,ENSG00000140090,1048,Q8NFF2,Q8NFF2,HGNC:10978 +GARD:0016931,Orphanet,100032,ORPHA:100032,4,FAM83H,[FLJ46072],family with sequence similarity 83 member H,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18252228],611927,ENSG00000180921,,Q6ZRV2,Q6ZRV2,HGNC:24797 +GARD:0016931,Orphanet,100032,ORPHA:100032,4,ITGB6,,integrin subunit beta 6,gene with protein product,2q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24319098],147558,ENSG00000115221,2460,P18564,P18564,HGNC:6161 +GARD:0016931,Orphanet,100032,ORPHA:100032,4,AMTN,"[RSTI689, UNQ689]",amelotin,gene with protein product,4q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27412008],610912,ENSG00000187689,,Q6UX39,Q6UX39,HGNC:33188 +GARD:0016932,Orphanet,100034,ORPHA:100034,1,DLX3,,distal-less homeobox 3,gene with protein product,17q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:15666299],600525,ENSG00000064195,,O60479,,HGNC:2916 +GARD:0016933,Orphanet,100050,ORPHA:100050,1,SERPING1,"[C1-INH, C1-inhibitor, C1IN, C1INH, HAE1, HAE2, angioedema, hereditary, plasma protease C1 inhibitor]",serpin family G member 1,gene with protein product,11q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24456027],606860,ENSG00000149131,,P05155,P05155,HGNC:1228 +GARD:0016934,Orphanet,100051,ORPHA:100051,1,SERPING1,"[C1-INH, C1-inhibitor, C1IN, C1INH, HAE1, HAE2, angioedema, hereditary, plasma protease C1 inhibitor]",serpin family G member 1,gene with protein product,11q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24456027],606860,ENSG00000149131,,P05155,P05155,HGNC:1228 +GARD:0016935,Orphanet,100054,ORPHA:100054,1,F12,,coagulation factor XII,gene with protein product,5q35.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20384613],610619,ENSG00000131187,2361,P00748,P00748,HGNC:3530 +GARD:0016936,Orphanet,100057,ORPHA:100057,1,XPNPEP2,,X-prolyl aminopeptidase 2,gene with protein product,Xq26.1,Major susceptibility factor in,Not yet assessed,,300145,ENSG00000122121,1579,O43895,O43895,HGNC:12823 +GARD:0016937,Orphanet,100924,ORPHA:100924,1,ALAD,"[ALADH, PBGS, porphobilinogen synthase]",aminolevulinate dehydratase,gene with protein product,9q32,Disease-causing germline mutation(s) in,Assessed,"[PMID:16343966, PMID:2063868]",125270,ENSG00000148218,,P13716,P13716,HGNC:395 +GARD:0016938,Orphanet,100976,ORPHA:100976,1,TGM1,"[K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase, LI, LI1, TGASE, TGK]",transglutaminase 1,gene with protein product,14q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:16968736, PMID:20301593]",190195,ENSG00000092295,,P22735,P22735,HGNC:11777 +GARD:0016939,Orphanet,101001,ORPHA:101001,1,SPG21,"[ABHD21, ACP33, BM-019, GL010, MAST]","SPG21 abhydrolase domain containing, maspardin",gene with protein product,15q22.31,Disease-causing germline mutation(s) in,Assessed,,608181,ENSG00000090487,,Q9NZD8,Q9NZD8,HGNC:20373 +GARD:0016940,Orphanet,101007,ORPHA:101007,1,SPG27,,spastic paraplegia 27 (autosomal recessive),Disorder-associated locus,10q22.1-q24.1,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:26071 +GARD:0016941,Orphanet,101008,ORPHA:101008,1,DDHD1,"[KIAA1705, PA-PLA1, PAPLA1, Phosphatidic acid-preferring phospholipase A1, iPLA1a, intracellular phospholipase A1 alpha, phosphatidic acid-preferring phospholipase A1]",DDHD domain containing 1,gene with protein product,14q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23176821],614603,ENSG00000100523,,Q8NEL9,Q8NEL9,HGNC:19714 +GARD:0016942,Orphanet,101010,ORPHA:101010,1,KIF1A,[UNC104],kinesin family member 1A,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:22258533, PMID:26410750]",601255,ENSG00000130294,,Q12756,Q12756,HGNC:888 +GARD:0016943,Orphanet,101068,ORPHA:101068,1,DCN,"[DSPG2, SLRR1B, decorin proteoglycan]",decorin,gene with protein product,12q21.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:15671264, PMID:20301741]",125255,ENSG00000011465,,P07585,P07585,HGNC:2705 +GARD:0016944,Orphanet,101351,ORPHA:101351,2,RPSA,"[37LRP, LRP, SA, p40]",ribosomal protein SA,gene with protein product,3p22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23579497],150370,ENSG00000168028,,P08865,P08865,HGNC:6502 +GARD:0016944,Orphanet,101351,ORPHA:101351,2,NKX2-5,"[CSX1, NKX2.5, NKX4-1, tinman (Drosophila) homolog, tinman paralog (Drosophila)]",NK2 homeobox 5,gene with protein product,5q34,Disease-causing germline mutation(s) in,Assessed,[PMID:22560297],600584,ENSG00000183072,,P52952,P52952,HGNC:2488 +GARD:0016945,Orphanet,103908,ORPHA:103908,2,SLC9A3,,solute carrier family 9 member A3,gene with protein product,5p15.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26358773],182307,ENSG00000066230,950,P48764,P48764,HGNC:11073 +GARD:0016945,Orphanet,103908,ORPHA:103908,2,GUCY2C,"[STA receptor, STAR, heat stable enterotoxin receptor]",guanylate cyclase 2C,gene with protein product,12p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25994218],601330,ENSG00000070019,1750,P25092,P25092,HGNC:4688 +GARD:0016946,Orphanet,103918,ORPHA:103918,2,CTRC,"[CLCR, ELA4, caldecrin, chymotrypsinogen C, elastase 4]",chymotrypsin C,gene with protein product,1p36.21,Major susceptibility factor in,Assessed,"[PMID:19404200, PMID:22580415]",601405,ENSG00000162438,2341,Q99895,Q99895,HGNC:2523 +GARD:0016946,Orphanet,103918,ORPHA:103918,2,SPINK1,"[PCTT, PSTI, Spink3, TATI]",serine peptidase inhibitor Kazal type 1,gene with protein product,5q32,Major susceptibility factor in,Assessed,"[PMID:12011155, PMID:12360463]",167790,ENSG00000164266,,P00995,,HGNC:11244 +GARD:0016948,Orphanet,137639,ORPHA:137639,1,POLR3A,"[C160, RPC1, RPC155, hRPC155]",RNA polymerase III subunit A,gene with protein product,10q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27506977],614258,ENSG00000148606,,O14802,O14802,HGNC:30074 +GARD:0016949,Orphanet,137681,ORPHA:137681,1,GFM1,"[EFGM, EGF1, GFM, mtEF-G1]",G elongation factor mitochondrial 1,gene with protein product,3q25.32,Disease-causing germline mutation(s) in,Assessed,[PMID:23430926],606639,ENSG00000168827,,Q96RP9,Q96RP9,HGNC:13780 +GARD:0016950,Orphanet,137908,ORPHA:137908,1,MRPS22,"[C3orf5, GIBT, GK002, MRP-S22]",mitochondrial ribosomal protein S22,gene with protein product,3q23,Disease-causing germline mutation(s) in,Assessed,[PMID:17873122],605810,ENSG00000175110,,P82650,P82650,HGNC:14508 +GARD:0016952,Orphanet,139474,ORPHA:139474,1,NF1,"[Watson disease, neurofibromatosis, von Recklinghausen disease]",neurofibromin 1,gene with protein product,17q11.2,Role in the phenotype of,Assessed,[PMID:22241097],613113,ENSG00000196712,,P21359,P21359,HGNC:7765 +GARD:0016954,Orphanet,139525,ORPHA:139525,4,FBXO38,"[FLJ13962, Fbx38, MOKA, SP329]",F-box protein 38,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,[PMID:24207122],608533,ENSG00000145868,,Q6PIJ6,Q6PIJ6,HGNC:28844 +GARD:0016954,Orphanet,139525,ORPHA:139525,4,HSPB1,"[CMT2F, HSP27, HSP28, Hs.76067, Hsp25]",heat shock protein family B (small) member 1,gene with protein product,7q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:15122254],602195,ENSG00000106211,,P04792,P04792,HGNC:5246 +GARD:0016954,Orphanet,139525,ORPHA:139525,4,HSPB8,"[CMT2L, E2IG1, H11, HSP22, HspB8]",heat shock protein family B (small) member 8,gene with protein product,12q24.23,Disease-causing germline mutation(s) in,Assessed,[PMID:15122253],608014,ENSG00000152137,,Q9UJY1,Q9UJY1,HGNC:30171 +GARD:0016954,Orphanet,139525,ORPHA:139525,4,HSPB3,[HSPL27],heat shock protein family B (small) member 3,gene with protein product,5q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20142617],604624,ENSG00000169271,,Q12988,,HGNC:5248 +GARD:0016955,Orphanet,139536,ORPHA:139536,3,BSCL2,[seipin],"BSCL2 lipid droplet biogenesis associated, seipin",gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:14981520],606158,ENSG00000168000,,Q96G97,,HGNC:15832 +GARD:0016955,Orphanet,139536,ORPHA:139536,3,REEP1,"[FLJ13110, SPG31, Yip2a, receptor expression enhancing protein 1]",receptor accessory protein 1,gene with protein product,2p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22703882],609139,ENSG00000068615,,Q9H902,Q9H902,HGNC:25786 +GARD:0016955,Orphanet,139536,ORPHA:139536,3,GARS1,"[DSMAV, GlyRS, SMAD1, glycine tRNA ligase]",glycyl-tRNA synthetase 1,gene with protein product,7p14.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:12690580, PMID:20301420]",600287,ENSG00000106105,,P41250,P41250,HGNC:4162 +GARD:0016957,Orphanet,139557,ORPHA:139557,1,ATP7A,"[copper pump 1, copper-transporting ATPase 1]",ATPase copper transporting alpha,gene with protein product,Xq21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20170900],300011,ENSG00000165240,852,Q04656,Q04656,HGNC:869 +GARD:0016959,Orphanet,139578,ORPHA:139578,1,CCT5,[KIAA0098],chaperonin containing TCP1 subunit 5,gene with protein product,5p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:16399879],610150,ENSG00000150753,,P48643,P48643,HGNC:1618 +GARD:0016960,Orphanet,139589,ORPHA:139589,2,DCTN1,[p150 glued homolog (Drosophila)],dynactin subunit 1,gene with protein product,2p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12627231],601143,ENSG00000204843,,Q14203,Q14203,HGNC:2711 +GARD:0016960,Orphanet,139589,ORPHA:139589,2,SLC5A7,"[CHT1, hCHT]",solute carrier family 5 member 7,gene with protein product,2q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23141292],608761,ENSG00000115665,914,Q9GZV3,Q9GZV3,HGNC:14025 +GARD:0016961,Orphanet,140436,ORPHA:140436,1,ELMO2,"[CED-12, CED12, ELMO-2, FLJ11656, KIAA1834]",engulfment and cell motility 2,gene with protein product,20q13.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27476657],606421,ENSG00000062598,,Q96JJ3,Q96JJ3,HGNC:17233 +GARD:0016962,Orphanet,140481,ORPHA:140481,1,ARHGEF10,"[Gef10, KIAA0294]",Rho guanine nucleotide exchange factor 10,gene with protein product,8p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:14508709],608136,ENSG00000104728,,O15013,O15013,HGNC:14103 +GARD:0016963,Orphanet,140908,ORPHA:140908,1,NOG,,noggin,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,[PMID:17668388],602991,ENSG00000183691,,Q13253,Q13253,HGNC:7866 +GARD:0016964,Orphanet,140941,ORPHA:140941,1,IGFALS,[ALS],insulin like growth factor binding protein acid labile subunit,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21396577],601489,ENSG00000099769,,P35858,P35858,HGNC:5468 +GARD:0016965,Orphanet,140957,ORPHA:140957,9,ITGA2B,"[CD41, CD41B, PPP1R93, platelet glycoprotein IIb of IIb/IIIa complex, protein phosphatase 1, regulatory subunit 93]",integrin subunit alpha 2b,gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:21454453],607759,ENSG00000005961,2441,P08514,P08514,HGNC:6138 +GARD:0016965,Orphanet,140957,ORPHA:140957,9,ACTN1,,actinin alpha 1,gene with protein product,14q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23434115],102575,ENSG00000072110,,P12814,P12814,HGNC:163 +GARD:0016965,Orphanet,140957,ORPHA:140957,9,TPM4,,tropomyosin 4,gene with protein product,19p13.12-p13.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28134622],600317,ENSG00000167460,,P67936,P67936,HGNC:12013 +GARD:0016965,Orphanet,140957,ORPHA:140957,9,TRPM7,"[CHAK1, LTRPC7, TRP-PLIK]",transient receptor potential cation channel subfamily M member 7,gene with protein product,15q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27020697],605692,ENSG00000092439,499,Q96QT4,Q96QT4,HGNC:17994 +GARD:0016965,Orphanet,140957,ORPHA:140957,9,TUBB1,"[Class VI beta-tubulin, class VI beta-tubulin, dJ543J19.4]",tubulin beta 1 class VI,gene with protein product,20q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:18849486],612901,ENSG00000101162,,Q9H4B7,Q9H4B7,HGNC:16257 +GARD:0016965,Orphanet,140957,ORPHA:140957,9,GP1BA,"[CD42b, GPIbalpha, platelet glycoprotein Ib alpha chain]",glycoprotein Ib platelet subunit alpha,gene with protein product,17p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21933849],606672,ENSG00000185245,,P07359,P07359,HGNC:4439 +GARD:0016965,Orphanet,140957,ORPHA:140957,9,GFI1B,[ZNF163B],growth factor independent 1B transcriptional repressor,gene with protein product,9q34.13,Disease-causing germline mutation(s) in,Assessed,[PMID:23927492],604383,ENSG00000165702,,Q5VTD9,Q5VTD9,HGNC:4238 +GARD:0016965,Orphanet,140957,ORPHA:140957,9,GP1BB,"[CD42c, GPIbbeta, platelet glycoprotein Ib beta chain]",glycoprotein Ib platelet subunit beta,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:28064200],138720,ENSG00000203618,,P13224,P13224,HGNC:4440 +GARD:0016965,Orphanet,140957,ORPHA:140957,9,ITGB3,"[CD61, GPIIIa, antigen CD61, platelet glycoprotein IIIa]",integrin subunit beta 3,gene with protein product,17q21.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:18065693, PMID:19336737]",173470,ENSG00000259207,2457,P05106,P05106,HGNC:6156 +GARD:0016966,Orphanet,140963,ORPHA:140963,1,HOXA2,,homeobox A2,gene with protein product,7p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18394579],604685,ENSG00000105996,,O43364,O43364,HGNC:5103 +GARD:0016967,Orphanet,140966,ORPHA:140966,1,SERPINB7,"[MEGSIN, megsin]",serpin family B member 7,gene with protein product,18q21.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24207119],603357,ENSG00000166396,,O75635,,HGNC:13902 +GARD:0016969,Orphanet,141074,ORPHA:141074,1,TSHZ1,"[NY-CO-33, TSH1]",teashirt zinc finger homeobox 1,gene with protein product,18q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22152683],614427,ENSG00000179981,,Q6ZSZ6,,HGNC:10669 +GARD:0016974,Orphanet,141258,ORPHA:141258,1,SPECC1L,"[CYTSA, KIAA0376, cytokinesis and spindle organization A]",sperm antigen with calponin homology and coiled-coil domains 1 like,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:21703590],614140,ENSG00000100014,,Q69YQ0,Q69YQ0,HGNC:29022 +GARD:0016975,Orphanet,141276,ORPHA:141276,2,SPECC1L,"[CYTSA, KIAA0376, cytokinesis and spindle organization A]",sperm antigen with calponin homology and coiled-coil domains 1 like,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:21703590],614140,ENSG00000100014,,Q69YQ0,Q69YQ0,HGNC:29022 +GARD:0016975,Orphanet,141276,ORPHA:141276,2,PTCH2,,patched 2,gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19208383],603673,ENSG00000117425,,Q9Y6C5,Q9Y6C5,HGNC:9586 +GARD:0016976,Orphanet,141291,ORPHA:141291,4,MSX1,"[HYD1, OFC5]",msh homeobox 1,gene with protein product,4p16.2,Major susceptibility factor in,Assessed,,142983,ENSG00000163132,,P28360,,HGNC:7391 +GARD:0016976,Orphanet,141291,ORPHA:141291,4,NECTIN1,"[CD111, CLPED1, HIgR, OFC7, PRR, PRR1, PVRR1, SK-12, nectin]",nectin cell adhesion molecule 1,gene with protein product,11q23.3,Major susceptibility factor in,Assessed,[PMID:16674562],600644,ENSG00000110400,,Q15223,Q15223,HGNC:9706 +GARD:0016976,Orphanet,141291,ORPHA:141291,4,TP63,"[EEC3, KET, NBP, OFC8, SHFM4, p51, p53CP, p63, p73H, p73L]",tumor protein p63,gene with protein product,3q28,Major susceptibility factor in,Assessed,"[PMID:16740912, PMID:21567929]",603273,ENSG00000073282,,Q9H3D4,Q9H3D4,HGNC:15979 +GARD:0016976,Orphanet,141291,ORPHA:141291,4,IRF6,"[OFC6, VWS1]",interferon regulatory factor 6,gene with protein product,1q32.2,Major susceptibility factor in,Assessed,[PMID:17438386],607199,ENSG00000117595,,O14896,O14896,HGNC:6121 +GARD:0016977,Orphanet,157215,ORPHA:157215,2,SLC34A3,"[FLJ38680, NPTIIc]",solute carrier family 34 member 3,gene with protein product,9q34.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:16358215],609826,ENSG00000198569,1137,Q8N130,Q8N130,HGNC:20305 +GARD:0016977,Orphanet,157215,ORPHA:157215,2,SLC34A1,"[NAPI-3, NPTIIa, Na+-phosphate cotransporter type II, SLC11, sodium/phosphate co-transporter, solute carrier family 17 (sodium phosphate), member 2]",solute carrier family 34 member 1,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:32311027],182309,ENSG00000131183,1135,Q06495,Q06495,HGNC:11019 +GARD:0016978,Orphanet,157713,ORPHA:157713,5,EIF2B5,"[EIF-2B, EIF2Bepsilon]",eukaryotic translation initiation factor 2B subunit epsilon,gene with protein product,3q27.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],603945,ENSG00000145191,,Q13144,Q13144,HGNC:3261 +GARD:0016978,Orphanet,157713,ORPHA:157713,5,EIF2B3,"[EIF-2B, EIF2Bgamma]",eukaryotic translation initiation factor 2B subunit gamma,gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],606273,ENSG00000070785,,Q9NR50,Q9NR50,HGNC:3259 +GARD:0016978,Orphanet,157713,ORPHA:157713,5,EIF2B2,"[EIF-2Bbeta, EIF2B]",eukaryotic translation initiation factor 2B subunit beta,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],606454,ENSG00000119718,,P49770,P49770,HGNC:3258 +GARD:0016978,Orphanet,157713,ORPHA:157713,5,EIF2B1,"[EIF-2B, EIF-2Balpha, EIF2BA]",eukaryotic translation initiation factor 2B subunit alpha,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],606686,ENSG00000111361,,Q14232,Q14232,HGNC:3257 +GARD:0016978,Orphanet,157713,ORPHA:157713,5,EIF2B4,"[DKFZP586J0119, EIF-2B, EIF2B, EIF2Bdelta]",eukaryotic translation initiation factor 2B subunit delta,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],606687,ENSG00000115211,,Q9UI10,Q9UI10,HGNC:3260 +GARD:0016979,Orphanet,157716,ORPHA:157716,5,EIF2B5,"[EIF-2B, EIF2Bepsilon]",eukaryotic translation initiation factor 2B subunit epsilon,gene with protein product,3q27.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],603945,ENSG00000145191,,Q13144,Q13144,HGNC:3261 +GARD:0016979,Orphanet,157716,ORPHA:157716,5,EIF2B3,"[EIF-2B, EIF2Bgamma]",eukaryotic translation initiation factor 2B subunit gamma,gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],606273,ENSG00000070785,,Q9NR50,Q9NR50,HGNC:3259 +GARD:0016979,Orphanet,157716,ORPHA:157716,5,EIF2B2,"[EIF-2Bbeta, EIF2B]",eukaryotic translation initiation factor 2B subunit beta,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],606454,ENSG00000119718,,P49770,P49770,HGNC:3258 +GARD:0016979,Orphanet,157716,ORPHA:157716,5,EIF2B1,"[EIF-2B, EIF-2Balpha, EIF2BA]",eukaryotic translation initiation factor 2B subunit alpha,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],606686,ENSG00000111361,,Q14232,Q14232,HGNC:3257 +GARD:0016979,Orphanet,157716,ORPHA:157716,5,EIF2B4,"[DKFZP586J0119, EIF-2B, EIF2B, EIF2Bdelta]",eukaryotic translation initiation factor 2B subunit delta,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],606687,ENSG00000115211,,Q9UI10,Q9UI10,HGNC:3260 +GARD:0016980,Orphanet,157719,ORPHA:157719,5,EIF2B5,"[EIF-2B, EIF2Bepsilon]",eukaryotic translation initiation factor 2B subunit epsilon,gene with protein product,3q27.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],603945,ENSG00000145191,,Q13144,Q13144,HGNC:3261 +GARD:0016980,Orphanet,157719,ORPHA:157719,5,EIF2B3,"[EIF-2B, EIF2Bgamma]",eukaryotic translation initiation factor 2B subunit gamma,gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],606273,ENSG00000070785,,Q9NR50,Q9NR50,HGNC:3259 +GARD:0016980,Orphanet,157719,ORPHA:157719,5,EIF2B2,"[EIF-2Bbeta, EIF2B]",eukaryotic translation initiation factor 2B subunit beta,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],606454,ENSG00000119718,,P49770,P49770,HGNC:3258 +GARD:0016980,Orphanet,157719,ORPHA:157719,5,EIF2B1,"[EIF-2B, EIF-2Balpha, EIF2BA]",eukaryotic translation initiation factor 2B subunit alpha,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],606686,ENSG00000111361,,Q14232,Q14232,HGNC:3257 +GARD:0016980,Orphanet,157719,ORPHA:157719,5,EIF2B4,"[DKFZP586J0119, EIF-2B, EIF2B, EIF2Bdelta]",eukaryotic translation initiation factor 2B subunit delta,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301435],606687,ENSG00000115211,,Q9UI10,Q9UI10,HGNC:3260 +GARD:0016981,Orphanet,157794,ORPHA:157794,2,GREM1,"[DAND2, DRM, Gremlin, HMPS, down-regulated in mos-transformed cells, gremlin, hereditary mixed polyposis syndrome]","gremlin 1, DAN family BMP antagonist",gene with protein product,15q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22561515],603054,ENSG00000166923,,O60565,O60565,HGNC:2001 +GARD:0016981,Orphanet,157794,ORPHA:157794,2,BMPR1A,"[ALK3, CD292]",bone morphogenetic protein receptor type 1A,gene with protein product,10q23.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:16525031],601299,ENSG00000107779,1786,P36894,P36894,HGNC:1076 +GARD:0016982,Orphanet,157798,ORPHA:157798,1,RNF43,"[DKFZp781H0392, FLJ20315, URCC]",ring finger protein 43,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,[PMID:27081527],612482,ENSG00000108375,,Q68DV7,Q68DV7,HGNC:18505 +GARD:0016983,Orphanet,157820,ORPHA:157820,3,KLHL7,"[KLHL6, RP42, SBBI26, retinitis pigmentosa 42]",kelch like family member 7,gene with protein product,7p15.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27392078],611119,ENSG00000122550,,Q8IXQ5,,HGNC:15646 +GARD:0016983,Orphanet,157820,ORPHA:157820,3,CLCF1,"[B-cell stimulating factor 3, BSF-3, BSF3, CISS2, CLC, NNT-1, NNT1, NR6, cold-induced sweating syndrome 2, novel neurotrophin-1]",cardiotrophin like cytokine factor 1,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:1678282, PMID:20400119, PMID:21370513]",607672,ENSG00000175505,,Q9UBD9,Q9UBD9,HGNC:17412 +GARD:0016983,Orphanet,157820,ORPHA:157820,3,CRLF1,"[CISS, CISS1, CLF, CLF-1, cold-induced sweating syndrome]",cytokine receptor like factor 1,gene with protein product,19p12,Disease-causing germline mutation(s) in,Assessed,"[PMID:12509788, PMID:17436251, PMID:21370513]",604237,ENSG00000006016,,O75462,O75462,HGNC:2364 +GARD:0016985,Orphanet,157941,ORPHA:157941,1,PRNP,"[AltPrP, CD230, Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, PRP, fatal familial insomnia, p27-30]",prion protein,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:11593450, PMID:24275071]",176640,ENSG00000171867,,P04156,P04156,HGNC:9449 +GARD:0016987,Orphanet,157954,ORPHA:157954,1,RBM28,[FLJ10377],RNA binding motif protein 28,gene with protein product,7q32.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18439547],612074,ENSG00000106344,,Q9NW13,Q9NW13,HGNC:21863 +GARD:0016988,Orphanet,157962,ORPHA:157962,1,HMX1,"[H6, NKX5-3]",H6 family homeobox 1,gene with protein product,4p16.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:18423520, PMID:25574057]",142992,ENSG00000215612,,Q9NP08,,HGNC:5017 +GARD:0016990,Orphanet,158681,ORPHA:158681,1,KRT5,[KRT5A],keratin 5,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:12925204],148040,ENSG00000186081,,P13647,P13647,HGNC:6442 +GARD:0016991,Orphanet,158684,ORPHA:158684,2,ITGB4,[CD104],integrin subunit beta 4,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,,147557,ENSG00000132470,2458,P16144,P16144,HGNC:6158 +GARD:0016991,Orphanet,158684,ORPHA:158684,2,PLEC,"[PCN, PLTN]",plectin,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20052759, PMID:20301336]",601282,ENSG00000178209,,Q15149,Q15149,HGNC:9069 +GARD:0016992,Orphanet,163596,ORPHA:163596,2,HBA2,[HBA-T2],hemoglobin subunit alpha 2,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,,141850,ENSG00000188536,,P69905,P69905,HGNC:4824 +GARD:0016992,Orphanet,163596,ORPHA:163596,2,HBA1,[HBA-T3],hemoglobin subunit alpha 1,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,,141800,ENSG00000206172,,P69905,P69905,HGNC:4823 +GARD:0016993,Orphanet,163649,ORPHA:163649,1,MIR140,[hsa-mir-140],microRNA 140,Non-coding RNA,16q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30804514],611894,ENSG00000208017,,,,HGNC:31527 +GARD:0016997,Orphanet,163681,ORPHA:163681,1,CNTNAP2,"[Caspr2, KIAA0868, NRXN4, contactin-associated protein-like 2]",contactin associated protein 2,gene with protein product,7q35-q36.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16571880],604569,ENSG00000174469,,Q9UHC6,,HGNC:13830 +GARD:0016998,Orphanet,163690,ORPHA:163690,2,SLC3A1,"[ATR1, CSNU1, D2H, NBAT, RBAT]",solute carrier family 3 member 1,gene with protein product,2p21,Role in the phenotype of,Assessed,[PMID:16385448],104614,ENSG00000138079,889,Q07837,Q07837,HGNC:11025 +GARD:0016998,Orphanet,163690,ORPHA:163690,2,PREPL,[KIAA0436],prolyl endopeptidase like,gene with protein product,2p21,Role in the phenotype of,Assessed,[PMID:16385448],609557,ENSG00000138078,2870,Q4J6C6,,HGNC:30228 +GARD:0016999,Orphanet,163693,ORPHA:163693,4,PPM1B,"[PP2CB, PP2CBETA, PPC2BETAX, protein phosphatase 2C, beta isoform]","protein phosphatase, Mg2+/Mn2+ dependent 1B",gene with protein product,2p21,Role in the phenotype of,Assessed,[PMID:11524703],603770,ENSG00000138032,,O75688,O75688,HGNC:9276 +GARD:0016999,Orphanet,163693,ORPHA:163693,4,SLC3A1,"[ATR1, CSNU1, D2H, NBAT, RBAT]",solute carrier family 3 member 1,gene with protein product,2p21,Role in the phenotype of,Assessed,[PMID:11524703],104614,ENSG00000138079,889,Q07837,Q07837,HGNC:11025 +GARD:0016999,Orphanet,163693,ORPHA:163693,4,PREPL,[KIAA0436],prolyl endopeptidase like,gene with protein product,2p21,Role in the phenotype of,Assessed,[PMID:11524703],609557,ENSG00000138078,2870,Q4J6C6,,HGNC:30228 +GARD:0016999,Orphanet,163693,ORPHA:163693,4,CAMKMT,"[CLNMT, CaM KMT]",calmodulin-lysine N-methyltransferase,gene with protein product,2p21,Role in the phenotype of,Assessed,[PMID:11524703],609559,ENSG00000143919,,Q7Z624,Q7Z624,HGNC:26276 +GARD:0017000,Orphanet,163696,ORPHA:163696,1,SCARB2,"[HLGP85, LIMP-2, LIMPII, SR-BII, lysosomal integral membrane protein II, lysosome membrane protein 2]",scavenger receptor class B member 2,gene with protein product,4q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26677510],602257,ENSG00000138760,,Q14108,Q14108,HGNC:1665 +GARD:0017001,Orphanet,163717,ORPHA:163717,1,CPA6,[CPAH],carboxypeptidase A6,gene with protein product,8q13.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:21922598],609562,ENSG00000165078,1592,Q8N4T0,,HGNC:17245 +GARD:0017002,Orphanet,163721,ORPHA:163721,2,GRIN2A,[GluN2A],glutamate ionotropic receptor NMDA type subunit 2A,gene with protein product,16p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23933818],138253,ENSG00000183454,456,Q12879,Q12879,HGNC:4585 +GARD:0017002,Orphanet,163721,ORPHA:163721,2,SRPX2,[SRPUL],sushi repeat containing protein X-linked 2,gene with protein product,Xq22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16497722],300642,ENSG00000102359,,O60687,,HGNC:30668 +GARD:0017003,Orphanet,163727,ORPHA:163727,1,TBC1D24,"[DFNA65, KIAA1171, TBC/LysM-associated domain containing 6, TLDC6, skywalker homolog (Drosophila)]",TBC1 domain family member 24,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31257402],613577,ENSG00000162065,,Q9ULP9,Q9ULP9,HGNC:29203 +GARD:0017004,Orphanet,163746,ORPHA:163746,1,SOX10,"[DOM, WS2E, WS4, dominant megacolon, mouse, human homolog of]",SRY-box transcription factor 10,gene with protein product,22q13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:22963253, PMID:24311220]",602229,ENSG00000100146,,P56693,P56693,HGNC:11190 +GARD:0017005,Orphanet,163956,ORPHA:163956,1,UBE2A,"[HHR6A, HR6A, RAD6A, UBC2]",ubiquitin conjugating enzyme E2 A,gene with protein product,Xq24,Disease-causing germline mutation(s) in,Assessed,[PMID:16909393],312180,ENSG00000077721,,P49459,P49459,HGNC:12472 +GARD:0017007,Orphanet,163966,ORPHA:163966,1,HDAC6,"[FLJ16239, HD6, JM21, KIAA0901, PPP1R90, protein phosphatase 1, regulatory subunit 90]",histone deacetylase 6,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:20181727],300272,ENSG00000094631,2618,Q9UBN7,Q9UBN7,HGNC:14064 +GARD:0017008,Orphanet,163976,ORPHA:163976,1,POLA1,[p180],"DNA polymerase alpha 1, catalytic subunit",gene with protein product,Xp22.11-p21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31006512],312040,ENSG00000101868,,P09884,P09884,HGNC:9173 +GARD:0017010,Orphanet,163985,ORPHA:163985,1,ARHGEF9,"[KIAA0424, PEM-2, collybistin]",Cdc42 guanine nucleotide exchange factor 9,gene with protein product,Xq11.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301437],300429,ENSG00000131089,,O43307,O43307,HGNC:14561 +GARD:0017011,Orphanet,165805,ORPHA:165805,1,CPA6,[CPAH],carboxypeptidase A6,gene with protein product,8q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21922598],609562,ENSG00000165078,1592,Q8N4T0,,HGNC:17245 +GARD:0017012,Orphanet,166011,ORPHA:166011,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:9800905],120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0017014,Orphanet,166024,ORPHA:166024,1,KIF7,[JBTS12],kinesin family member 7,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22587682],611254,ENSG00000166813,,Q2M1P5,Q2M1P5,HGNC:30497 +GARD:0017017,Orphanet,166035,ORPHA:166035,1,CWC27,"[NY-CO-10, SDCCAG-10]",CWC27 spliceosome associated cyclophilin,gene with protein product,5q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28285769],617170,ENSG00000153015,,Q6UX04,,HGNC:10664 +GARD:0017019,Orphanet,166078,ORPHA:166078,1,VWF,,von Willebrand factor,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301765],613160,ENSG00000110799,,P04275,P04275,HGNC:12726 +GARD:0017021,Orphanet,166084,ORPHA:166084,1,VWF,,von Willebrand factor,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301765],613160,ENSG00000110799,,P04275,P04275,HGNC:12726 +GARD:0017022,Orphanet,166087,ORPHA:166087,1,VWF,,von Willebrand factor,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301765],613160,ENSG00000110799,,P04275,P04275,HGNC:12726 +GARD:0017023,Orphanet,166090,ORPHA:166090,1,VWF,,von Willebrand factor,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301765],613160,ENSG00000110799,,P04275,P04275,HGNC:12726 +GARD:0017024,Orphanet,166093,ORPHA:166093,1,VWF,,von Willebrand factor,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301765],613160,ENSG00000110799,,P04275,P04275,HGNC:12726 +GARD:0017025,Orphanet,166096,ORPHA:166096,1,VWF,,von Willebrand factor,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301765],613160,ENSG00000110799,,P04275,P04275,HGNC:12726 +GARD:0017026,Orphanet,166105,ORPHA:166105,1,FASTKD2,,FAST kinase domains 2,gene with protein product,2q33.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18771761],612322,ENSG00000118246,,Q9NYY8,,HGNC:29160 +GARD:0017027,Orphanet,166119,ORPHA:166119,1,LEMD3,"[MAN antigen 1, MAN1, inner nuclear membrane protein Man1]",LEM domain containing 3,gene with protein product,12q14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26694706],607844,ENSG00000174106,,Q9Y2U8,Q9Y2U8,HGNC:28887 +GARD:0017028,Orphanet,166412,ORPHA:166412,1,SLC1A1,"[EAAC1, EAAT3]",solute carrier family 1 member 1,gene with protein product,9p24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28324217],133550,ENSG00000106688,870,P43005,P43005,HGNC:10939 +GARD:0017033,Orphanet,168558,ORPHA:168558,1,CYP11A1,"[P450SCC, cholesterol monooxygenase (side-chain-cleaving)]",cytochrome P450 family 11 subfamily A member 1,gene with protein product,15q24.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:11502818, PMID:15507506, PMID:18182448]",118485,ENSG00000140459,1358,P05108,P05108,HGNC:2590 +GARD:0017034,Orphanet,168563,ORPHA:168563,1,DHH,"[HHG-3, MGC35145]",desert hedgehog signaling molecule,gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:11017805],605423,ENSG00000139549,,O43323,O43323,HGNC:2865 +GARD:0017035,Orphanet,168566,ORPHA:168566,1,TSFM,"[EF-TS, EF-Tsmt]","Ts translation elongation factor, mitochondrial",gene with protein product,12q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17033963],604723,ENSG00000123297,,P43897,P43897,HGNC:12367 +GARD:0017036,Orphanet,168577,ORPHA:168577,1,SLC2A1,"[DYT18, DYT9]",solute carrier family 2 member 1,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21791420],138140,ENSG00000117394,875,P11166,P11166,HGNC:11005 +GARD:0017037,Orphanet,168583,ORPHA:168583,1,UTP4,"[CIRHIN, FLJ14728, KIAA1988, NAIC, TEX292, UTP4, small subunit (SSU) processome component, homolog (yeast)]",UTP4 small subunit processome component,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12417987],607456,ENSG00000141076,,Q969X6,Q969X6,HGNC:1983 +GARD:0017038,Orphanet,168601,ORPHA:168601,1,TMPRSS15,"[ENTK, MGC133046, enteropeptidase, proenterokinase]",transmembrane serine protease 15,gene with protein product,21q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:11719902],606635,ENSG00000154646,3189,P98073,,HGNC:9490 +GARD:0017039,Orphanet,168606,ORPHA:168606,1,ZNF750,"[FLJ13841, Zfp750]",zinc finger protein 750,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:16751772],610226,ENSG00000141579,,Q32MQ0,Q32MQ0,HGNC:25843 +GARD:0017040,Orphanet,168612,ORPHA:168612,1,AFP,[FETA],alpha fetoprotein,gene with protein product,4q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:15280901],104150,ENSG00000081051,,P02771,P02771,HGNC:317 +GARD:0017041,Orphanet,168629,ORPHA:168629,4,ANKRD26,[KIAA1074],ankyrin repeat domain containing 26,gene with protein product,10p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26175287],610855,ENSG00000107890,,Q9UPS8,,HGNC:29186 +GARD:0017041,Orphanet,168629,ORPHA:168629,4,CYCS,"[CYC, HCS]","cytochrome c, somatic",gene with protein product,7p15.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:18345000, PMID:24326104]",123970,ENSG00000172115,,P99999,P99999,HGNC:19986 +GARD:0017041,Orphanet,168629,ORPHA:168629,4,MASTL,"[FLJ14813, Gwl, THC2, greatwall kinase homolog]",microtubule associated serine/threonine kinase like,gene with protein product,10p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12890928],608221,ENSG00000120539,1514,Q96GX5,Q96GX5,HGNC:19042 +GARD:0017041,Orphanet,168629,ORPHA:168629,4,IKZF5,"[FLJ22973, Pegasus]",IKAROS family zinc finger 5,gene with protein product,10q26.13,Disease-causing germline mutation(s) in,Assessed,[PMID:31217188],606238,ENSG00000095574,,Q9H5V7,,HGNC:14283 +GARD:0017043,Orphanet,168953,ORPHA:168953,1,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Part of a fusion gene in,Assessed,[PMID:23489324],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0017045,Orphanet,169079,ORPHA:169079,1,NHEJ1,"[Cernunnos, FLJ12610, XLF, XRCC4-like factor]",non-homologous end joining factor 1,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,,611290,ENSG00000187736,,Q9H9Q4,Q9H9Q4,HGNC:25737 +GARD:0017046,Orphanet,169082,ORPHA:169082,1,CD3G,,CD3 gamma subunit of T-cell receptor complex,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,,186740,ENSG00000160654,,P09693,P09693,HGNC:1675 +GARD:0017047,Orphanet,169085,ORPHA:169085,1,CD8A,,CD8a molecule,gene with protein product,2p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:11435463],186910,ENSG00000153563,,P01732,P01732,HGNC:1706 +GARD:0017049,Orphanet,169100,ORPHA:169100,1,IL2RA,[CD25],interleukin 2 receptor subunit alpha,gene with protein product,10p15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:9096364],147730,ENSG00000134460,1695,P01589,P01589,HGNC:6008 +GARD:0017050,Orphanet,169150,ORPHA:169150,7,C8B,,complement C8 beta chain,gene with protein product,1p32.2,Disease-causing germline mutation(s) in,Assessed,,120960,ENSG00000021852,,P07358,P07358,HGNC:1353 +GARD:0017050,Orphanet,169150,ORPHA:169150,7,C6,,complement C6,gene with protein product,5p13.1,Disease-causing germline mutation(s) in,Assessed,,217050,ENSG00000039537,,P13671,P13671,HGNC:1339 +GARD:0017050,Orphanet,169150,ORPHA:169150,7,C8A,,complement C8 alpha chain,gene with protein product,1p32.2,Disease-causing germline mutation(s) in,Assessed,,120950,ENSG00000157131,,P07357,P07357,HGNC:1352 +GARD:0017050,Orphanet,169150,ORPHA:169150,7,C7,,complement C7,gene with protein product,5p13.1,Disease-causing germline mutation(s) in,Assessed,,217070,ENSG00000112936,,P10643,P10643,HGNC:1346 +GARD:0017050,Orphanet,169150,ORPHA:169150,7,C8G,,complement C8 gamma chain,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22773339],120930,ENSG00000176919,,P07360,P07360,HGNC:1354 +GARD:0017050,Orphanet,169150,ORPHA:169150,7,C9,,complement C9,gene with protein product,5p13.1,Disease-causing germline mutation(s) in,Assessed,,120940,ENSG00000113600,,P02748,P02748,HGNC:1358 +GARD:0017050,Orphanet,169150,ORPHA:169150,7,C5,"[C5a, C5a anaphylatoxin, C5b, CPAMD4, prepro-C5]",complement C5,gene with protein product,9q33.2,Disease-causing germline mutation(s) in,Assessed,,120900,ENSG00000106804,,P01031,P01031,HGNC:1331 +GARD:0017051,Orphanet,169154,ORPHA:169154,1,IL7R,"[CD127, IL7RA]",interleukin 7 receptor,gene with protein product,5p13.2,Disease-causing germline mutation(s) in,Assessed,,146661,ENSG00000168685,1698,P16871,P16871,HGNC:6024 +GARD:0017052,Orphanet,169157,ORPHA:169157,1,PTPRC,"[GP180, LCA, T200]",protein tyrosine phosphatase receptor type C,gene with protein product,1q31.3-q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:11145714],151460,ENSG00000081237,1852,P08575,P08575,HGNC:9666 +GARD:0017053,Orphanet,169160,ORPHA:169160,3,CD3E,,CD3 epsilon subunit of T-cell receptor complex,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,,186830,ENSG00000198851,2742,P07766,P07766,HGNC:1674 +GARD:0017053,Orphanet,169160,ORPHA:169160,3,CD247,"[CD3H, CD3Q, T-cell surface glycoprotein CD3 zeta chain]",CD247 molecule,gene with protein product,1q24.2,Disease-causing germline mutation(s) in,Assessed,,186780,ENSG00000198821,3142,P20963,P20963,HGNC:1677 +GARD:0017053,Orphanet,169160,ORPHA:169160,3,CD3D,,CD3 delta subunit of T-cell receptor complex,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,,186790,ENSG00000167286,,P04234,P04234,HGNC:1673 +GARD:0017054,Orphanet,169464,ORPHA:169464,1,CD59,"[16.3A5, EJ16, EJ30, EL32, G344, p18-20]",CD59 molecule (CD59 blood group),gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,[PMID:23149847],107271,ENSG00000085063,,P13987,P13987,HGNC:1689 +GARD:0017055,Orphanet,169467,ORPHA:169467,1,CFD,"[ADN, adipsin]",complement factor D,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:16527897],134350,ENSG00000197766,2842,P00746,P00746,HGNC:2771 +GARD:0017056,Orphanet,169793,ORPHA:169793,1,F9,"[Christmas disease, FIX, Factor IX, hemophilia B, plasma thromboplastic component]",coagulation factor IX,gene with protein product,Xq27.1,Disease-causing germline mutation(s) in,Assessed,,300746,ENSG00000101981,2364,P00740,P00740,HGNC:3551 +GARD:0017057,Orphanet,169796,ORPHA:169796,1,F9,"[Christmas disease, FIX, Factor IX, hemophilia B, plasma thromboplastic component]",coagulation factor IX,gene with protein product,Xq27.1,Disease-causing germline mutation(s) in,Assessed,,300746,ENSG00000101981,2364,P00740,P00740,HGNC:3551 +GARD:0017058,Orphanet,169799,ORPHA:169799,1,F9,"[Christmas disease, FIX, Factor IX, hemophilia B, plasma thromboplastic component]",coagulation factor IX,gene with protein product,Xq27.1,Disease-causing germline mutation(s) in,Assessed,,300746,ENSG00000101981,2364,P00740,P00740,HGNC:3551 +GARD:0017059,Orphanet,169802,ORPHA:169802,1,F8,"[DXS1253E, FVIII, Factor VIIIF8B, HEMA, hemophilia A]",coagulation factor VIII,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301578],300841,ENSG00000185010,2607,P00451,P00451,HGNC:3546 +GARD:0017060,Orphanet,169805,ORPHA:169805,1,F8,"[DXS1253E, FVIII, Factor VIIIF8B, HEMA, hemophilia A]",coagulation factor VIII,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301578],300841,ENSG00000185010,2607,P00451,P00451,HGNC:3546 +GARD:0017061,Orphanet,169808,ORPHA:169808,1,F8,"[DXS1253E, FVIII, Factor VIIIF8B, HEMA, hemophilia A]",coagulation factor VIII,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301578],300841,ENSG00000185010,2607,P00451,P00451,HGNC:3546 +GARD:0017062,Orphanet,171445,ORPHA:171445,1,FLNC,"[ABP-280, ABPL, actin binding protein 280, gamma filamin]",filamin C,gene with protein product,7q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:15929027],102565,ENSG00000128591,,Q14315,Q14315,HGNC:3756 +GARD:0017063,Orphanet,171607,ORPHA:171607,1,SPG34,,spastic paraplegia 34 (autosomal dominant),Disorder-associated locus,reserved,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:32944 +GARD:0017064,Orphanet,171612,ORPHA:171612,2,SPG37,,spastic paraplegia 37 (autosomal dominant),Disorder-associated locus,8p21.2-q13.3,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:33472 +GARD:0017064,Orphanet,171612,ORPHA:171612,2,KPNA3,,karyopherin subunit alpha 3,gene with protein product,13q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:34564892],601892,ENSG00000102753,,O00505,,HGNC:6396 +GARD:0017065,Orphanet,171617,ORPHA:171617,1,SPG38,,"spastic paraplegia 38 (autosomal dominant, Silver syndrome)",Disorder-associated locus,4p16-p15,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:33485 +GARD:0017066,Orphanet,171680,ORPHA:171680,1,TUBA1A,"['tubulin, alpha, brain-specific', B-ALPHA-1, FLJ25113, TUBA3, Tubulin, alpha, brain-specific]",tubulin alpha 1a,gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:18669490, PMID:18954413, PMID:22264709]",602529,ENSG00000167552,2638,Q71U36,Q71U36,HGNC:20766 +GARD:0017067,Orphanet,171690,ORPHA:171690,1,SLC16A1,"[MCT, MCT1]",solute carrier family 16 member 1,gene with protein product,1p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:10590411],600682,ENSG00000155380,988,P53985,P53985,HGNC:10922 +GARD:0017068,Orphanet,171706,ORPHA:171706,1,SECISBP2,"[SBP2, Sec insertion sequence-binding protein 2, Selenocysteine insertion sequence-binding protein 2]",SECIS binding protein 2,gene with protein product,9q22.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:16228000, PMID:19602558]",607693,ENSG00000187742,,Q96T21,Q96T21,HGNC:30972 +GARD:0017071,Orphanet,171848,ORPHA:171848,1,ABHD12,"[ABHD12A, BEM46L2, DKFZP434P106, dJ965G21.2]","abhydrolase domain containing 12, lysophospholipase",gene with protein product,20p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:20797687],613599,ENSG00000100997,3070,Q8N2K0,Q8N2K0,HGNC:15868 +GARD:0017072,Orphanet,171851,ORPHA:171851,2,AP1B1,"[AP105A, BAM22]",adaptor related protein complex 1 subunit beta 1,gene with protein product,22q12.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31630791],600157,ENSG00000100280,,Q10567,Q10567,HGNC:554 +GARD:0017072,Orphanet,171851,ORPHA:171851,2,AP1S1,"[AP-1 complex subunit sigma-1A, AP19, HA1 19 kDa subunit, SIGMA1A, WUGSC:H_DJ0747G18.2, clathrin assembly protein complex 1 sigma-1A small chain, clathrin coat assembly protein AP19, clathrin-associated/assembly/adaptor protein, small 1 (19kD), golgi adaptor HA1/AP1 adaptin sigma-1A subunit, sigma1A subunit of AP-1 clathrin adaptor complex, sigma1A-adaptin]",adaptor related protein complex 1 subunit sigma 1,gene with protein product,7q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19057675],603531,ENSG00000106367,,P61966,P61966,HGNC:559 +GARD:0017073,Orphanet,171863,ORPHA:171863,1,SLC33A1,"[AT-1, AT1]",solute carrier family 33 member 1,gene with protein product,3q25.31,Disease-causing germline mutation(s) in,Assessed,[PMID:19061983],603690,ENSG00000169359,1134,O00400,O00400,HGNC:95 +GARD:0017074,Orphanet,177907,ORPHA:177907,1,SNRPN,"[HCERN3, RT-LI, SM protein N, SM-D, SMN, SNRNP-N, SNURF-SNRPN, small nuclear ribonucleoprotein N, tissue-specific splicing protein]",small nuclear ribonucleoprotein polypeptide N,gene with protein product,15q11.2,Role in the phenotype of,Assessed,"[PMID:11159938, PMID:12154412, PMID:8845846]",182279,ENSG00000128739,,P63162,P63162,HGNC:11164 +GARD:0017075,Orphanet,177910,ORPHA:177910,5,SNRPN,"[HCERN3, RT-LI, SM protein N, SM-D, SMN, SNRNP-N, SNURF-SNRPN, small nuclear ribonucleoprotein N, tissue-specific splicing protein]",small nuclear ribonucleoprotein polypeptide N,gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:9634532],182279,ENSG00000128739,,P63162,P63162,HGNC:11164 +GARD:0017075,Orphanet,177910,ORPHA:177910,5,NDN,"[HsT16328, PWCR, Prader-Willi syndrome chromosome region]","necdin, MAGE family member",gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:24039599],602117,ENSG00000182636,,Q99608,Q99608,HGNC:7675 +GARD:0017075,Orphanet,177910,ORPHA:177910,5,SNORD116@,"[HBII-85, PET1]","small nucleolar RNA, C/D box 116 cluster",Non-coding RNA,15q11.2,Role in the phenotype of,Assessed,[PMID:22495932],605436,,,,,HGNC:32781 +GARD:0017075,Orphanet,177910,ORPHA:177910,5,MAGEL2,[nM15],MAGE family member L2,gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:20301505],605283,ENSG00000254585,,Q9UJ55,Q9UJ55,HGNC:6814 +GARD:0017075,Orphanet,177910,ORPHA:177910,5,SNORD115@,[HBII-52],"small nucleolar RNA, C/D box 115 cluster",Non-coding RNA,15q11.2,Role in the phenotype of,Assessed,"[PMID:20301505, PMID:22495932, PMID:28296064]",609837,,,,,HGNC:32780 +GARD:0017076,Orphanet,177926,ORPHA:177926,1,F8,"[DXS1253E, FVIII, Factor VIIIF8B, HEMA, hemophilia A]",coagulation factor VIII,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,"[PMID:19302446, PMID:20301578, PMID:25611311]",300841,ENSG00000185010,2607,P00451,P00451,HGNC:3546 +GARD:0017077,Orphanet,177929,ORPHA:177929,1,F9,"[Christmas disease, FIX, Factor IX, hemophilia B, plasma thromboplastic component]",coagulation factor IX,gene with protein product,Xq27.1,Disease-causing germline mutation(s) in,Assessed,,300746,ENSG00000101981,2364,P00740,P00740,HGNC:3551 +GARD:0017078,Orphanet,178145,ORPHA:178145,1,RYR1,"[PPP1R137, RYR, protein phosphatase 1, regulatory subunit 137]",ryanodine receptor 1,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:12112081, PMID:20301467]",180901,ENSG00000196218,747,P21817,P21817,HGNC:10483 +GARD:0017079,Orphanet,178307,ORPHA:178307,1,ADAM10,"[CD156C, CD156c, HsT18717, MADM, kuz]",ADAM metallopeptidase domain 10,gene with protein product,15q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23666529],602192,ENSG00000137845,1658,O14672,O14672,HGNC:188 +GARD:0017080,Orphanet,178400,ORPHA:178400,1,DYSF,"[FER1L1, fer-1-like family member 1]",dysferlin,gene with protein product,2p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:19493611],603009,ENSG00000135636,,O75923,O75923,HGNC:3097 +GARD:0017081,Orphanet,178461,ORPHA:178461,1,FHL1,"[FHL1B, FLH1A, Four-and-a-half LIM domains 1, KYO-T, LIM protein SLIMMER, MGC111107, SLIM1, XMPMA, bA535K18.1]",four and a half LIM domains 1,gene with protein product,Xq26.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18179888],300163,ENSG00000022267,,Q13642,Q13642,HGNC:3702 +GARD:0017082,Orphanet,178506,ORPHA:178506,1,FARSB,"[FRSB, PheHB, phenylalanine tRNA ligase 1, beta, cytoplasmic]",phenylalanyl-tRNA synthetase subunit beta,gene with protein product,2q36.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30014610],609690,ENSG00000116120,,Q9NSD9,Q9NSD9,HGNC:17800 +GARD:0017083,Orphanet,179494,ORPHA:179494,1,LEPR,"[CD295, OBR]",leptin receptor,gene with protein product,1p31.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:17229951, PMID:9537324]",601007,ENSG00000116678,1712,P48357,P48357,HGNC:6554 +GARD:0017086,Orphanet,183675,ORPHA:183675,2,IGHG2,,immunoglobulin heavy constant gamma 2 (G2m marker),gene with protein product,14q32.33,Disease-causing germline mutation(s) in,Assessed,[PMID:9449702],147110,ENSG00000211893,,P01859,P01859,HGNC:5526 +GARD:0017086,Orphanet,183675,ORPHA:183675,2,IGKC,[HCAK1],immunoglobulin kappa constant,gene with protein product,2p11.2,Disease-causing germline mutation(s) in,Assessed,,147200,ENSG00000211592,,P01834,P01834,HGNC:5716 +GARD:0017087,Orphanet,183707,ORPHA:183707,1,RAC2,[EN-7],Rac family small GTPase 2,gene with protein product,22q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:10758162],602049,ENSG00000128340,,P15153,P15153,HGNC:9802 +GARD:0017088,Orphanet,189466,ORPHA:189466,2,AIRE,"[APS1, PGA1, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy]",autoimmune regulator,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28323927],607358,ENSG00000160224,,O43918,O43918,HGNC:360 +GARD:0017088,Orphanet,189466,ORPHA:189466,2,PTH,"[PTH1, parathormone, parathyrin, parathyroid hormone 1, prepro-PTH, preproparathyroid hormone]",parathyroid hormone,gene with protein product,11p15.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:10523031, PMID:2212001, PMID:22722080]",168450,ENSG00000152266,,P01270,P01270,HGNC:9606 +GARD:0017090,Orphanet,199285,ORPHA:199285,1,BCO1,"[BCMO, FLJ10730]",beta-carotene oxygenase 1,gene with protein product,16q23.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17951468],605748,ENSG00000135697,,Q9HAY6,Q9HAY6,HGNC:13815 +GARD:0017091,Orphanet,199302,ORPHA:199302,4,MSX1,"[HYD1, OFC5]",msh homeobox 1,gene with protein product,4p16.2,Major susceptibility factor in,Assessed,[PMID:12807959],142983,ENSG00000163132,,P28360,,HGNC:7391 +GARD:0017091,Orphanet,199302,ORPHA:199302,4,NECTIN1,"[CD111, CLPED1, HIgR, OFC7, PRR, PRR1, PVRR1, SK-12, nectin]",nectin cell adhesion molecule 1,gene with protein product,11q23.3,Major susceptibility factor in,Assessed,[PMID:16674562],600644,ENSG00000110400,,Q15223,Q15223,HGNC:9706 +GARD:0017091,Orphanet,199302,ORPHA:199302,4,TP63,"[EEC3, KET, NBP, OFC8, SHFM4, p51, p53CP, p63, p73H, p73L]",tumor protein p63,gene with protein product,3q28,Major susceptibility factor in,Assessed,"[PMID:16740912, PMID:21567929]",603273,ENSG00000073282,,Q9H3D4,Q9H3D4,HGNC:15979 +GARD:0017091,Orphanet,199302,ORPHA:199302,4,IRF6,"[OFC6, VWS1]",interferon regulatory factor 6,gene with protein product,1q32.2,Major susceptibility factor in,Assessed,[PMID:17438386],607199,ENSG00000117595,,O14896,O14896,HGNC:6121 +GARD:0017092,Orphanet,199306,ORPHA:199306,9,DLX4,"[BP1, DLX8]",distal-less homeobox 4,gene with protein product,17q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:25954033],601911,ENSG00000108813,,Q92988,Q92988,HGNC:2917 +GARD:0017092,Orphanet,199306,ORPHA:199306,9,DLG1,"[DLGH1, SAP-97, SAP97, dJ1061C18.1.1, discs large homolog 1, hdlg, presynaptic protein SAP97, synapse-associated protein 97]",discs large MAGUK scaffold protein 1,gene with protein product,3q29,Major susceptibility factor in,Assessed,[PMID:28926086],601014,ENSG00000075711,,Q12959,Q12959,HGNC:2900 +GARD:0017092,Orphanet,199306,ORPHA:199306,9,CDH1,"[CD324, E-Cadherin, uvomorulin]",cadherin 1,gene with protein product,16q22.1,Major susceptibility factor in,Assessed,[PMID:23197654],192090,ENSG00000039068,,P12830,P12830,HGNC:1748 +GARD:0017092,Orphanet,199306,ORPHA:199306,9,MSX1,"[HYD1, OFC5]",msh homeobox 1,gene with protein product,4p16.2,Major susceptibility factor in,Assessed,[PMID:12807959],142983,ENSG00000163132,,P28360,,HGNC:7391 +GARD:0017092,Orphanet,199306,ORPHA:199306,9,NECTIN1,"[CD111, CLPED1, HIgR, OFC7, PRR, PRR1, PVRR1, SK-12, nectin]",nectin cell adhesion molecule 1,gene with protein product,11q23.3,Major susceptibility factor in,Assessed,[PMID:16674562],600644,ENSG00000110400,,Q15223,Q15223,HGNC:9706 +GARD:0017092,Orphanet,199306,ORPHA:199306,9,TP63,"[EEC3, KET, NBP, OFC8, SHFM4, p51, p53CP, p63, p73H, p73L]",tumor protein p63,gene with protein product,3q28,Major susceptibility factor in,Assessed,"[PMID:16740912, PMID:21567929]",603273,ENSG00000073282,,Q9H3D4,Q9H3D4,HGNC:15979 +GARD:0017092,Orphanet,199306,ORPHA:199306,9,BMP4,,bone morphogenetic protein 4,gene with protein product,14q22.2,Major susceptibility factor in,Assessed,[PMID:22978696],112262,ENSG00000125378,,P12644,P12644,HGNC:1071 +GARD:0017092,Orphanet,199306,ORPHA:199306,9,ARHGAP29,[PARG1],Rho GTPase activating protein 29,gene with protein product,1p22.1,Major susceptibility factor in,Assessed,[PMID:27350171],610496,ENSG00000137962,,Q52LW3,Q52LW3,HGNC:30207 +GARD:0017092,Orphanet,199306,ORPHA:199306,9,IRF6,"[OFC6, VWS1]",interferon regulatory factor 6,gene with protein product,1q32.2,Major susceptibility factor in,Assessed,[PMID:17438386],607199,ENSG00000117595,,O14896,O14896,HGNC:6121 +GARD:0017094,Orphanet,199332,ORPHA:199332,1,CILK1,"[KIAA0936, LCK2, MAK-related kinase, MGC46090, MRK, serine/threonine-protein kinase ICK]",ciliogenesis associated kinase 1,gene with protein product,6p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19185282],612325,ENSG00000112144,2038,Q9UPZ9,Q9UPZ9,HGNC:21219 +GARD:0017095,Orphanet,199337,ORPHA:199337,1,COX4I2,"[COX4-2, COX4B, COXIV-2, cytochrome c oxidase subunit IV-like 2, dJ857M17.2]",cytochrome c oxidase subunit 4I2,gene with protein product,20q11.21,Disease-causing germline mutation(s) in,Assessed,,607976,ENSG00000131055,,Q96KJ9,,HGNC:16232 +GARD:0017096,Orphanet,199340,ORPHA:199340,1,BAG3,[BAG family molecular chaperone regulator 3],BAG cochaperone 3,gene with protein product,10q26.11,Disease-causing germline mutation(s) in,Assessed,[PMID:19085932],603883,ENSG00000151929,,O95817,O95817,HGNC:939 +GARD:0017097,Orphanet,199348,ORPHA:199348,1,SLC19A3,"[THTR2, thiamine transporter 2]",solute carrier family 19 member 3,gene with protein product,2q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19387023],606152,ENSG00000135917,1016,Q9BZV2,Q9BZV2,HGNC:16266 +GARD:0017098,Orphanet,200418,ORPHA:200418,1,CFI,"[C3b-INA, C3b-inactivator, FI, KAF, Konglutinogen-activating factor]",complement factor I,gene with protein product,4q25,Disease-causing germline mutation(s) in,Assessed,,217030,ENSG00000205403,,P05156,P05156,HGNC:5394 +GARD:0017099,Orphanet,200421,ORPHA:200421,1,CFH,"[ARMD4, ARMS1, FHL1, H factor 2 (complement), HUS, age-related maculopathy susceptibility 1, beta-1H]",complement factor H,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,,134370,ENSG00000000971,,P08603,P08603,HGNC:4883 +GARD:0017101,Orphanet,206580,ORPHA:206580,1,PLEKHG5,"[GEF720, KIAA0720, Syx, Tech, synectin-binding guanine exchange factor]",pleckstrin homology and RhoGEF domain containing G5,gene with protein product,1p36.31,Disease-causing germline mutation(s) in,Assessed,[PMID:17564964],611101,ENSG00000171680,,O94827,O94827,HGNC:29105 +GARD:0017102,Orphanet,209335,ORPHA:209335,1,VAPB,"[ALS8, VAP-B, VAP-C]",VAMP associated protein B and C,gene with protein product,20q13.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:15372378, PMID:24212516]",605704,ENSG00000124164,,O95292,O95292,HGNC:12649 +GARD:0017103,Orphanet,209370,ORPHA:209370,1,MECP2,,methyl-CpG binding protein 2,gene with protein product,Xq28,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:18477000, PMID:20301670]",300005,ENSG00000169057,,P51608,P51608,HGNC:6990 +GARD:0017104,Orphanet,209867,ORPHA:209867,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:15671297],120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0017105,Orphanet,209916,ORPHA:209916,5,NR4A3,"[CHN, CSMF, MINOR, NOR1]",nuclear receptor subfamily 4 group A member 3,gene with protein product,9q22,Part of a fusion gene in,Assessed,[PMID:18855877],600542,ENSG00000119508,631,Q92570,Q92570,HGNC:7982 +GARD:0017105,Orphanet,209916,ORPHA:209916,5,TAF15,"[Npl3, RBP56, hTAFII68]",TATA-box binding protein associated factor 15,gene with protein product,17q12,Part of a fusion gene in,Assessed,[PMID:18330903],601574,ENSG00000270647,,Q92804,Q92804,HGNC:11547 +GARD:0017105,Orphanet,209916,ORPHA:209916,5,TCF12,"[HEB, HTF4, Helix-loop-helix transcription factor 4, HsT17266, bHLHb20, helix-loop-helix transcription factor 4, p64]",transcription factor 12,gene with protein product,15q21.3,Part of a fusion gene in,Assessed,[PMID:11156374],600480,ENSG00000140262,,Q99081,Q99081,HGNC:11623 +GARD:0017105,Orphanet,209916,ORPHA:209916,5,EWSR1,[EWS],EWS RNA binding protein 1,gene with protein product,22q12.2,Part of a fusion gene in,Assessed,[PMID:18855877],133450,ENSG00000182944,,Q01844,Q01844,HGNC:3508 +GARD:0017105,Orphanet,209916,ORPHA:209916,5,TFG,"[FLJ36137, SPG57, TF6]",trafficking from ER to golgi regulator,gene with protein product,3q12.2,Part of a fusion gene in,Assessed,[PMID:22581839],602498,ENSG00000114354,,Q92734,Q92734,HGNC:11758 +GARD:0017107,Orphanet,209967,ORPHA:209967,1,SLC1A3,"[EA6, EAAT1, GLAST]",solute carrier family 1 member 3,gene with protein product,5p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:19139306],600111,ENSG00000079215,868,P43003,P43003,HGNC:10941 +GARD:0017109,Orphanet,210141,ORPHA:210141,3,KANK1,"[KANK, KIAA0172]",KN motif and ankyrin repeat domains 1,gene with protein product,9p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:16301218],607704,ENSG00000107104,,Q14678,Q14678,HGNC:19309 +GARD:0017109,Orphanet,210141,ORPHA:210141,3,GAD1,,glutamate decarboxylase 1,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:15571623],605363,ENSG00000128683,1272,Q99259,Q99259,HGNC:4092 +GARD:0017109,Orphanet,210141,ORPHA:210141,3,ADD3,[gamma-adducin],adducin 3,gene with protein product,10q25.1-q25.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23836506],601568,ENSG00000148700,,Q9UEY8,Q9UEY8,HGNC:245 +GARD:0017110,Orphanet,210144,ORPHA:210144,1,FTO,"[ALKBH9, AlkB homolog 9, KIAA1752, MGC5149, alkB homolog 9, alpha-ketoglutarate-dependent dioxygenase]",FTO alpha-ketoglutarate dependent dioxygenase,gene with protein product,16q12.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19559399],610966,ENSG00000140718,,Q9C0B1,Q9C0B1,HGNC:24678 +GARD:0017111,Orphanet,210163,ORPHA:210163,1,CNTN1,"[F3, GP135, glycoprotein gP135]",contactin 1,gene with protein product,12q12,Disease-causing germline mutation(s) in,Assessed,[PMID:19026398],600016,ENSG00000018236,,Q12860,Q12860,HGNC:2171 +GARD:0017112,Orphanet,210548,ORPHA:210548,2,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:15805158, PMID:17286265, PMID:19265751]",601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0017112,Orphanet,210548,ORPHA:210548,2,HEPACAM,"[FLJ25530, GLIALCAM, glial cell adhesion molecule, hepaCAM]",hepatic and glial cell adhesion molecule,gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21419380],611642,ENSG00000165478,,Q14CZ8,,HGNC:26361 +GARD:0017113,Orphanet,211067,ORPHA:211067,1,CACNB4,[EJM4],calcium voltage-gated channel auxiliary subunit beta 4,gene with protein product,2q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:10762541],601949,ENSG00000182389,,O00305,O00305,HGNC:1404 +GARD:0017114,Orphanet,216866,ORPHA:216866,1,PANK2,"[FLJ11729, HARP, HSS, Hallervorden-Spatz syndrome, PKAN, pantothenate kinase-associated neurodegeneration]",pantothenate kinase 2,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,,606157,ENSG00000125779,,Q9BZ23,Q9BZ23,HGNC:15894 +GARD:0017115,Orphanet,216873,ORPHA:216873,1,PANK2,"[FLJ11729, HARP, HSS, Hallervorden-Spatz syndrome, PKAN, pantothenate kinase-associated neurodegeneration]",pantothenate kinase 2,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,,606157,ENSG00000125779,,Q9BZ23,Q9BZ23,HGNC:15894 +GARD:0017117,Orphanet,217059,ORPHA:217059,1,HPGD,"[15-hydroxyprostaglandin dehydrogenase (NAD(+)), SDR36C1, short chain dehydrogenase/reductase family 36C, member 1]",15-hydroxyprostaglandin dehydrogenase,gene with protein product,4q34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18805827],601688,ENSG00000164120,1384,P15428,P15428,HGNC:5154 +GARD:0017118,Orphanet,217085,ORPHA:217085,1,IDS,"[Hunter syndrome, ID2S]",iduronate 2-sulfatase,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,,300823,ENSG00000010404,,P22304,P22304,HGNC:5389 +GARD:0017119,Orphanet,217093,ORPHA:217093,1,IDS,"[Hunter syndrome, ID2S]",iduronate 2-sulfatase,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,,300823,ENSG00000010404,,P22304,P22304,HGNC:5389 +GARD:0017120,Orphanet,217335,ORPHA:217335,1,RIN2,[RASSF4],Ras and Rab interactor 2,gene with protein product,20p11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19631308, PMID:24449201]",610222,ENSG00000132669,,Q8WYP3,Q8WYP3,HGNC:18750 +GARD:0017122,Orphanet,217385,ORPHA:217385,2,YWHAE,"[14-3-3 epsilon, FLJ45465]",tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon,gene with protein product,17p13.3,Role in the phenotype of,Assessed,[PMID:21195811],605066,ENSG00000108953,,P62258,P62258,HGNC:12851 +GARD:0017122,Orphanet,217385,ORPHA:217385,2,PAFAH1B1,"[LIS1, NudF, PAFAH, lissencephaly-1]",platelet activating factor acetylhydrolase 1b regulatory subunit 1,gene with protein product,17p13.3,Role in the phenotype of,Assessed,[PMID:21195811],601545,ENSG00000007168,,P43034,P43034,HGNC:8574 +GARD:0017123,Orphanet,217396,ORPHA:217396,1,SLC25A19,"[DNC, MUP1, TPC]",solute carrier family 25 member 19,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19798730],606521,ENSG00000125454,1073,Q9HC21,Q9HC21,HGNC:14409 +GARD:0017124,Orphanet,217407,ORPHA:217407,1,DSC3,"[CDHF3, DSC, DSC1, DSC2]",desmocollin 3,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19765682],600271,ENSG00000134762,,Q14574,Q14574,HGNC:3037 +GARD:0017125,Orphanet,217467,ORPHA:217467,1,HRG,"[HPRG, HRGP, histidine-proline rich glycoprotein, thrombophilia due to elevated HRG]",histidine rich glycoprotein,gene with protein product,3q27.3,Disease-causing germline mutation(s) in,Assessed,[PMID:9414276],142640,ENSG00000113905,,P04196,P04196,HGNC:5181 +GARD:0017126,Orphanet,217563,ORPHA:217563,1,SFTPB,[SP-B],surfactant protein B,gene with protein product,2p11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23330012],178640,ENSG00000168878,,P07988,P07988,HGNC:10801 +GARD:0017127,Orphanet,217566,ORPHA:217566,1,SFTPC,"[BRICD6, BRICHOS domain containing 6, PSP-C, SMDP2, SP-C]",surfactant protein C,gene with protein product,8p21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20403820, PMID:22018035]",178620,ENSG00000168484,,P11686,P11686,HGNC:10802 +GARD:0017128,Orphanet,217622,ORPHA:217622,1,EYA4,,EYA transcriptional coactivator and phosphatase 4,gene with protein product,6q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:15735644],603550,ENSG00000112319,,O95677,O95677,HGNC:3522 +GARD:0017130,Orphanet,220295,ORPHA:220295,4,ERCC5,[Cockayne syndrome],"ERCC excision repair 5, endonuclease",gene with protein product,13q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301571],133530,ENSG00000134899,,P28715,P28715,HGNC:3437 +GARD:0017130,Orphanet,220295,ORPHA:220295,4,ERCC4,"[FANCQ, RAD1, xeroderma pigmentosum, complementation group F]","ERCC excision repair 4, endonuclease catalytic subunit",gene with protein product,16p13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301571],133520,ENSG00000175595,,Q92889,Q92889,HGNC:3436 +GARD:0017130,Orphanet,220295,ORPHA:220295,4,ERCC2,"[EM9, MAG, MGC102762, MGC126218, MGC126219, TFIIH, TFIIH basal transcription factor complex helicase XPB subunit, excision repair cross-complementing rodent repair deficiency, complementation group 2 protein]","ERCC excision repair 2, TFIIH core complex helicase subunit",gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301571],126340,ENSG00000104884,,P18074,P18074,HGNC:3434 +GARD:0017130,Orphanet,220295,ORPHA:220295,4,ERCC3,"[BTF2, GTF2H, RAD25, Ssl2, TFIIH, XPB, xeroderma pigmentosum group B complementing]","ERCC excision repair 3, TFIIH core complex helicase subunit",gene with protein product,2q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301571],133510,ENSG00000163161,,P19447,P19447,HGNC:3435 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,TDGF1,"[CR, CR-1, CRIPTO, Cripto-1]",teratocarcinoma-derived growth factor 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,,187395,ENSG00000241186,,P13385,P13385,HGNC:11701 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,PTCH1,[BCNS],patched 1,gene with protein product,9q22.32,Disease-causing germline mutation(s) in,Assessed,,601309,ENSG00000185920,,Q13635,Q13635,HGNC:9585 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,GAS1,[Growth arrest-specific gene-1],growth arrest specific 1,gene with protein product,9q21.33,Disease-causing germline mutation(s) in,Assessed,,139185,ENSG00000180447,,P54826,P54826,HGNC:4165 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,FGF8,"[AIGF, androgen-induced growth factor]",fibroblast growth factor 8,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,,600483,ENSG00000107831,,P55075,P55075,HGNC:3686 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,DLL1,,delta like canonical Notch ligand 1,gene with protein product,6q27,Disease-causing germline mutation(s) in,Assessed,,606582,ENSG00000198719,,O00548,O00548,HGNC:2908 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,SMC1A,"[DXS423E, KIAA0178, SB1.8, Smcb]",structural maintenance of chromosomes 1A,gene with protein product,Xp11.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31334757],300040,ENSG00000072501,,Q14683,Q14683,HGNC:11111 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,SIX3,,SIX homeobox 3,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,,603714,ENSG00000138083,,O95343,O95343,HGNC:10889 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,CDON,"[CDO, CDON1, Ihog, ORCAM, cell adhesion molecule-related/down-regulated by oncogenes]","cell adhesion associated, oncogene regulated",gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,,608707,ENSG00000064309,,Q4KMG0,Q4KMG0,HGNC:17104 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,STAG2,"[SA-2, SA2, SCC3B]",stromal antigen 2,gene with protein product,Xq25,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31334757],300826,ENSG00000101972,,Q8N3U4,Q8N3U4,HGNC:11355 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:27363716],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,TGIF1,,TGFB induced factor homeobox 1,gene with protein product,18p11.31,Disease-causing germline mutation(s) in,Assessed,,602630,ENSG00000177426,,Q15583,Q15583,HGNC:11776 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,,600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,NODAL,,nodal growth differentiation factor,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,,601265,ENSG00000156574,,Q96S42,Q96S42,HGNC:7865 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,GLI2,"[HPE9, THP1, THP2, tax helper protein 1, tax helper protein 2, tax-responsive element-2 holding protein]",GLI family zinc finger 2,gene with protein product,2q14.2,Disease-causing germline mutation(s) in,Assessed,,165230,ENSG00000074047,,P10070,P10070,HGNC:4318 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,FOXH1,[FAST1],forkhead box H1,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,,603621,ENSG00000160973,,O75593,O75593,HGNC:3814 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,STIL,[MCPH7],STIL centriolar assembly protein,gene with protein product,1p33,Disease-causing germline mutation(s) in,Assessed,[PMID:29785796],181590,ENSG00000123473,,Q15468,Q15468,HGNC:10879 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,ZIC2,"[HPE5, Zinc finger protein of the cerebellum 2]",Zic family member 2,gene with protein product,13q32.3,Disease-causing germline mutation(s) in,Assessed,,603073,ENSG00000043355,,O95409,,HGNC:12873 +GARD:0017131,Orphanet,220386,ORPHA:220386,18,DISP1,"[DISPA, DKFZP434I0428, MGC13130, MGC16796]",dispatched RND transporter family member 1,gene with protein product,1q41,Disease-causing germline mutation(s) in,Assessed,,607502,ENSG00000154309,,Q96F81,,HGNC:19711 +GARD:0017132,Orphanet,220443,ORPHA:220443,1,TBXA2R,,thromboxane A2 receptor,gene with protein product,19p13.3,Major susceptibility factor in,Not yet assessed,,188070,ENSG00000006638,346,P21731,P21731,HGNC:11608 +GARD:0017133,Orphanet,220465,ORPHA:220465,1,STAT5B,,signal transducer and activator of transcription 5B,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22419735],604260,ENSG00000173757,,P51692,P51692,HGNC:11367 +GARD:0017134,Orphanet,221008,ORPHA:221008,1,ANAPC1,"[APC1, MCPR, TSG24]",anaphase promoting complex subunit 1,gene with protein product,2q13,Disease-causing germline mutation(s) in,Assessed,[PMID:31303264],608473,ENSG00000153107,,Q9H1A4,Q9H1A4,HGNC:19988 +GARD:0017135,Orphanet,221016,ORPHA:221016,1,RECQL4,[RecQ4],RecQ like helicase 4,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301415, PMID:20503338]",603780,ENSG00000160957,,O94761,,HGNC:9949 +GARD:0017138,Orphanet,221126,ORPHA:221126,1,FLVCR2,"[CCT, FLJ20371, MFSD7C, SLC49A2]",FLVCR heme transporter 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20206334],610865,ENSG00000119686,1911,Q9UPI3,,HGNC:20105 +GARD:0017139,Orphanet,221139,ORPHA:221139,2,KNSTRN,"[FLJ14502, SKAP, TRAF4 associated factor 1, TRAF4AF1, kinastrin, kinetochore-localized astrin-binding protein, small kinetochore-associated protein]",kinetochore localized astrin (SPAG5) binding protein,gene with protein product,15q15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29180244],614718,ENSG00000128944,,Q9Y448,Q9Y448,HGNC:30767 +GARD:0017139,Orphanet,221139,ORPHA:221139,2,PIK3CD,"[p110D, phosphatidylinositol 3-kinase, catalytic, delta polypeptide, phosphoinositide-3-kinase C]","phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta",gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,[PMID:29180244],602839,ENSG00000171608,2155,O00329,O00329,HGNC:8977 +GARD:0017140,Orphanet,221145,ORPHA:221145,1,LTBP4,"[FLJ46318, FLJ90018, LTBP-4, LTBP-4L]",latent transforming growth factor beta binding protein 4,gene with protein product,19q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19836010, PMID:22829427]",604710,ENSG00000090006,,Q8N2S1,Q8N2S1,HGNC:6717 +GARD:0017140,Orphanet,221145,ORPHA:221145,1,LTBP4,"[FLJ46318, FLJ90018, LTBP-4, LTBP-4L]",latent transforming growth factor beta binding protein 4,gene with protein product,19q13.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:19836010, PMID:22829427]",604710,ENSG00000090006,,Q8N2S1,Q8N2S1,HGNC:6717 +GARD:0017141,Orphanet,225154,ORPHA:225154,3,ADAR,[ADAR1],adenosine deaminase RNA specific,gene with protein product,1q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24262145],146920,ENSG00000160710,,P55265,P55265,HGNC:225 +GARD:0017141,Orphanet,225154,ORPHA:225154,3,NUP62,"[DKFZp547L134, FLJ20822, FLJ43869, IBSN, MGC841, SNDI, nuclear pore glycoprotein p62, p62]",nucleoporin 62,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,,605815,ENSG00000213024,,P37198,P37198,HGNC:8066 +GARD:0017141,Orphanet,225154,ORPHA:225154,3,MT-ATP6,"[ATP6, ATPase-6, Su6m, mitochondrially encoded ATP synthase membrane subunit a]",mitochondrially encoded ATP synthase membrane subunit 6,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,,516060,ENSG00000198899,801,P00846,P00846,HGNC:7414 +GARD:0017142,Orphanet,227535,ORPHA:227535,9,RAD54L,"[RAD54A, hHR54, hRAD54]",RAD54 like,gene with protein product,1p34.1,Candidate gene tested in,Not yet assessed,,603615,ENSG00000085999,,Q92698,,HGNC:9826 +GARD:0017142,Orphanet,227535,ORPHA:227535,9,PPM1D,"[PP2C-DELTA, Wip1, protein phosphatase 2C, delta isoform, wild-type p53-induced phosphatase 1]","protein phosphatase, Mg2+/Mn2+ dependent 1D",gene with protein product,17q23.3,Candidate gene tested in,Not yet assessed,,605100,ENSG00000170836,3134,O15297,O15297,HGNC:9277 +GARD:0017142,Orphanet,227535,ORPHA:227535,9,XRCC2,"[FANCU, RAD51-like]",X-ray repair cross complementing 2,gene with protein product,7q36.1,Major susceptibility factor in,Assessed,[PMID:22464251],600375,ENSG00000196584,,O43543,O43543,HGNC:12829 +GARD:0017142,Orphanet,227535,ORPHA:227535,9,CDH1,"[CD324, E-Cadherin, uvomorulin]",cadherin 1,gene with protein product,16q22.1,Candidate gene tested in,Not yet assessed,[PMID:32322110],192090,ENSG00000039068,,P12830,P12830,HGNC:1748 +GARD:0017142,Orphanet,227535,ORPHA:227535,9,BRCA1,"[BRCA1/BRCA2-containing complex, subunit 1, BRCC1, FANCS, Fanconi anemia, complementation group S, PPP1R53, RNF53, protein phosphatase 1, regulatory subunit 53]",BRCA1 DNA repair associated,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,"[PMID:10323242, PMID:12442275, PMID:9609997]",113705,ENSG00000012048,,P38398,P38398,HGNC:1100 +GARD:0017142,Orphanet,227535,ORPHA:227535,9,KLLN,[killin],"killin, p53 regulated DNA replication inhibitor",gene with protein product,10q23,Major susceptibility factor in,Assessed,[PMID:23450725],612105,ENSG00000227268,,B2CW77,,HGNC:37212 +GARD:0017142,Orphanet,227535,ORPHA:227535,9,SLC22A18,"[BWR1A, ITM, TSSC5]",solute carrier family 22 member 18,gene with protein product,11p15.4,Candidate gene tested in,Not yet assessed,,602631,ENSG00000110628,1036,Q96BI1,Q96BI1,HGNC:10964 +GARD:0017142,Orphanet,227535,ORPHA:227535,9,PALB2,"[FANCN, FLJ21816, Fanconi anemia, complementation group N]",partner and localizer of BRCA2,gene with protein product,16p12.2,Major susceptibility factor in,Assessed,[PMID:25099575],610355,ENSG00000083093,,Q86YC2,Q86YC2,HGNC:26144 +GARD:0017142,Orphanet,227535,ORPHA:227535,9,BRCA2,"[BRCA1/BRCA2-containing complex, subunit 2, BRCC2, FAD, FAD1, XRCC11]",BRCA2 DNA repair associated,gene with protein product,13q13.1,Major susceptibility factor in,Assessed,"[PMID:10323242, PMID:12442275, PMID:9609997]",600185,ENSG00000139618,,P51587,P51587,HGNC:1101 +GARD:0017143,Orphanet,227976,ORPHA:227976,1,TMEM126A,"[DKFZp586C1924, OPA7]",transmembrane protein 126A,gene with protein product,11q14.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:19327736, PMID:22815638]",612988,ENSG00000171202,,Q9H061,,HGNC:25382 +GARD:0017144,Orphanet,228003,ORPHA:228003,1,CORO1A,"[Clabp TACO, HCORO1, coronin-1, p57]",coronin 1A,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23522482],605000,ENSG00000102879,,P31146,P31146,HGNC:2252 +GARD:0017145,Orphanet,228012,ORPHA:228012,1,MYO6,[KIAA0389],myosin VI,gene with protein product,6q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:15060111],600970,ENSG00000196586,,Q9UM54,Q9UM54,HGNC:7605 +GARD:0017146,Orphanet,228169,ORPHA:228169,1,PDE8B,"[High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B]",phosphodiesterase 8B,gene with protein product,5q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20085714],603390,ENSG00000113231,1308,O95263,O95263,HGNC:8794 +GARD:0017147,Orphanet,228179,ORPHA:228179,1,DNM2,"[CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, cytoskeletal protein, dynamin II]",dynamin 2,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:17636067, PMID:18394888]",602378,ENSG00000079805,,P50570,P50570,HGNC:2974 +GARD:0017149,Orphanet,228302,ORPHA:228302,1,CPT2,[CPTASE],carnitine palmitoyltransferase 2,gene with protein product,1p32.3,Disease-causing germline mutation(s) in,Assessed,,600650,ENSG00000157184,,P23786,P23786,HGNC:2330 +GARD:0017150,Orphanet,228305,ORPHA:228305,1,CPT2,[CPTASE],carnitine palmitoyltransferase 2,gene with protein product,1p32.3,Disease-causing germline mutation(s) in,Assessed,,600650,ENSG00000157184,,P23786,P23786,HGNC:2330 +GARD:0017151,Orphanet,228308,ORPHA:228308,1,CPT2,[CPTASE],carnitine palmitoyltransferase 2,gene with protein product,1p32.3,Disease-causing germline mutation(s) in,Assessed,,600650,ENSG00000157184,,P23786,P23786,HGNC:2330 +GARD:0017152,Orphanet,228354,ORPHA:228354,1,CLN8,"[FLJ39417, TLCD6]",CLN8 transmembrane ER and ERGIC protein,gene with protein product,8p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21990111],607837,ENSG00000182372,,Q9UBY8,,HGNC:2079 +GARD:0017153,Orphanet,228374,ORPHA:228374,1,NEFL,"[CMT1F, CMT2E, NF68, NFL, PPP1R110, protein phosphatase 1, regulatory subunit 110]",neurofilament light chain,gene with protein product,8p21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20039262],162280,ENSG00000277586,,P07196,P07196,HGNC:7739 +GARD:0017154,Orphanet,228387,ORPHA:228387,1,NKX3-2,"[NKX3.2, NKX3B]",NK3 homeobox 2,gene with protein product,4p15.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20004766],602183,ENSG00000109705,,P78367,,HGNC:951 +GARD:0017156,Orphanet,230857,ORPHA:230857,2,COL1A2,"[alpha 2(I)-collagen, alpha-2 collagen type I, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain, type I procollagen]",collagen type I alpha 2 chain,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23692737],120160,ENSG00000164692,,P08123,P08123,HGNC:2198 +GARD:0017156,Orphanet,230857,ORPHA:230857,2,COL1A1,[OI4],collagen type I alpha 1 chain,gene with protein product,17q21.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:15728585, PMID:23692737, PMID:25674388]",120150,ENSG00000108821,,P02452,P02452,HGNC:2197 +GARD:0017158,Orphanet,231040,ORPHA:231040,1,SASH1,"[KIAA0790, SH3D6A, dJ323M4.1]",SAM and SH3 domain containing 1,gene with protein product,6q24.3-q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26203640],607955,ENSG00000111961,,O94885,,HGNC:19182 +GARD:0017159,Orphanet,231108,ORPHA:231108,2,SMARCA4,"[ATP-dependent helicase SMARCA4, BAF190, BRG1, BRM/SWI2-related gene 1, FLJ39786, SNF2, SNF2-BETA, SNF2-like 4, SNF2LB, SWI2, brahma protein-like 1, global transcription activator homologous sequence, hSNF2b, homeotic gene regulator, mitotic growth and transcription activator, nuclear protein GRB1, sucrose nonfermenting-like 4]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4",gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20137775, PMID:21566516]",603254,ENSG00000127616,2740,P51532,P51532,HGNC:11100 +GARD:0017159,Orphanet,231108,ORPHA:231108,2,SMARCB1,"[BAF47, Ini1, PPP1R144, RDT, SNF5, Sfh1p, Snr1, hSNFS, integrase interactor 1, malignant rhabdoid tumor suppressor, protein phosphatase 1, regulatory subunit 144, sucrose nonfermenting, yeast, homolog-like 1]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1",gene with protein product,22q11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:10521299],601607,ENSG00000099956,,Q12824,Q12824,HGNC:11103 +GARD:0017160,Orphanet,231120,ORPHA:231120,1,CDKN1C,"[KIP2, P57]",cyclin dependent kinase inhibitor 1C,gene with protein product,11p15.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301568, PMID:20803657, PMID:26077438]",600856,ENSG00000129757,,P49918,P49918,HGNC:1786 +GARD:0017161,Orphanet,231160,ORPHA:231160,5,ENG,"[CD105, END, HHT1]",endoglin,gene with protein product,9q34.11,Major susceptibility factor in,Assessed,[PMID:19299629],131195,ENSG00000106991,2895,P17813,P17813,HGNC:3349 +GARD:0017161,Orphanet,231160,ORPHA:231160,5,THSD1,[TMTSP],thrombospondin type 1 domain containing 1,gene with protein product,13q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27895300],616821,ENSG00000136114,,Q9NS62,Q9NS62,HGNC:17754 +GARD:0017161,Orphanet,231160,ORPHA:231160,5,ANGPTL6,"[AGF, ARP5, angiopoietin-related protein 5]",angiopoietin like 6,gene with protein product,19p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29304371],609336,ENSG00000130812,,Q8NI99,,HGNC:23140 +GARD:0017161,Orphanet,231160,ORPHA:231160,5,TGFBR3,"[BGCAN, betaglycan, betaglycan proteoglycan]",transforming growth factor beta receptor 3,gene with protein product,1p22.1,Candidate gene tested in,Not yet assessed,[PMID:19299629],600742,ENSG00000069702,1796,Q03167,,HGNC:11774 +GARD:0017161,Orphanet,231160,ORPHA:231160,5,COL3A1,,collagen type III alpha 1 chain,gene with protein product,2q32.2,Candidate gene tested in,Not yet assessed,[PMID:22241462],120180,ENSG00000168542,,P02461,P02461,HGNC:2201 +GARD:0017162,Orphanet,231214,ORPHA:231214,1,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:21886666],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0017163,Orphanet,231222,ORPHA:231222,1,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:21886666],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0017164,Orphanet,231226,ORPHA:231226,1,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:21886666],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0017165,Orphanet,231237,ORPHA:231237,3,HBD,,hemoglobin subunit delta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:1301204],142000,ENSG00000223609,,P02042,P02042,HGNC:4829 +GARD:0017165,Orphanet,231237,ORPHA:231237,3,HBG1,[HBG-T2],hemoglobin subunit gamma 1,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:18932066],142200,ENSG00000213934,,P69891,P69891,HGNC:4831 +GARD:0017165,Orphanet,231237,ORPHA:231237,3,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:18932066],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0017166,Orphanet,231393,ORPHA:231393,1,GATA1,"[ERYF1, GATA-1, NF-E1, NFE1, nuclear factor, erythroid 1]",GATA binding protein 1,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:20301538],305371,ENSG00000102145,,P15976,P15976,HGNC:4170 +GARD:0017167,Orphanet,231401,ORPHA:231401,1,ATRX,"[RAD54 homolog (S. cerevisiae), XH2, XNP]",ATRX chromatin remodeler,gene with protein product,Xq21.1,Disease-causing somatic mutation(s) in,Assessed,,300032,ENSG00000085224,,P46100,P46100,HGNC:886 +GARD:0017168,Orphanet,231500,ORPHA:231500,2,HPS4,"[BLOC3S2, KIAA1667, LE]",HPS4 biogenesis of lysosomal organelles complex 3 subunit 2,gene with protein product,22q12.1,Disease-causing germline mutation(s) in,Assessed,,606682,ENSG00000100099,,Q9NQG7,Q9NQG7,HGNC:15844 +GARD:0017168,Orphanet,231500,ORPHA:231500,2,HPS1,[BLOC3S1],HPS1 biogenesis of lysosomal organelles complex 3 subunit 1,gene with protein product,10q24.2,Disease-causing germline mutation(s) in,Assessed,,604982,ENSG00000107521,,Q92902,Q92902,HGNC:5163 +GARD:0017169,Orphanet,231512,ORPHA:231512,3,HPS5,"[AIBP63, BLOC2S2, RU2, Ruby-eye protein 2 homolog, alpha-integrin-binding protein 63]",HPS5 biogenesis of lysosomal organelles complex 2 subunit 2,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,,607521,ENSG00000110756,,Q9UPZ3,,HGNC:17022 +GARD:0017169,Orphanet,231512,ORPHA:231512,3,HPS6,"[BLOC2S3, FLJ22501]",HPS6 biogenesis of lysosomal organelles complex 2 subunit 3,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,,607522,ENSG00000166189,,Q86YV9,,HGNC:18817 +GARD:0017169,Orphanet,231512,ORPHA:231512,3,HPS3,"[BLOC2S1, SUTAL]",HPS3 biogenesis of lysosomal organelles complex 2 subunit 1,gene with protein product,3q24,Disease-causing germline mutation(s) in,Assessed,,606118,ENSG00000163755,,Q969F9,,HGNC:15597 +GARD:0017170,Orphanet,231531,ORPHA:231531,4,BLOC1S3,"[BLOC-1 subunit 3, BLOS3, Biogenesis of Lysosome-related Organelles complex-1 Subunit 3, HPS8, Hermansky-Pudlak syndrome 8]",biogenesis of lysosomal organelles complex 1 subunit 3,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:16420244, PMID:20301464, PMID:27514596]",609762,ENSG00000189114,,Q6QNY0,Q6QNY0,HGNC:20914 +GARD:0017170,Orphanet,231531,ORPHA:231531,4,BLOC1S6,"[BLOC-1 subunit pallidin, HPS9]",biogenesis of lysosomal organelles complex 1 subunit 6,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:16420244, PMID:20301464, PMID:27514596]",604310,ENSG00000104164,,Q9UL45,Q9UL45,HGNC:8549 +GARD:0017170,Orphanet,231531,ORPHA:231531,4,DTNBP1,"[BLOC1S8, DBND, Dysbindin, HPS7, My031, biogenesis of lysosomal organelles complex-1, subunit 8, dysbindin-1]",dystrobrevin binding protein 1,gene with protein product,6p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12923531],607145,ENSG00000047579,,Q96EV8,Q96EV8,HGNC:17328 +GARD:0017170,Orphanet,231531,ORPHA:231531,4,BLOC1S5,,biogenesis of lysosomal organelles complex 1 subunit 5,gene with protein product,6p24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:16420244, PMID:20301464, PMID:27514596]",607289,ENSG00000188428,,Q8TDH9,,HGNC:18561 +GARD:0017171,Orphanet,238329,ORPHA:238329,1,AIFM1,"[AIF, CMTX4, DFNX5]",apoptosis inducing factor mitochondria associated 1,gene with protein product,Xq26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20362274],300169,ENSG00000156709,,O95831,O95831,HGNC:8768 +GARD:0017172,Orphanet,238446,ORPHA:238446,1,UBE3A,"[ANCR, AS, Angelman syndrome, E6-AP, FLJ26981]",ubiquitin protein ligase E3A,gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:25884337],601623,ENSG00000114062,,Q05086,Q05086,HGNC:12496 +GARD:0017173,Orphanet,238475,ORPHA:238475,3,TJP2,"[Friedreich ataxia region gene X104 (tight junction protein ZO-2), X104, ZO-2, ZO2, zona occludens 2]",tight junction protein 2,gene with protein product,9q21.11,Disease-causing germline mutation(s) in,Assessed,[PMID:12704386],607709,ENSG00000119139,,Q9UDY2,Q9UDY2,HGNC:11828 +GARD:0017173,Orphanet,238475,ORPHA:238475,3,EPHX1,,epoxide hydrolase 1,gene with protein product,1q42.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:12878321, PMID:25992604]",132810,ENSG00000143819,,P07099,P07099,HGNC:3401 +GARD:0017173,Orphanet,238475,ORPHA:238475,3,BAAT,"[BAT, glycine N-choloyltransferase]",bile acid-CoA:amino acid N-acyltransferase,gene with protein product,9q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12704386],602938,ENSG00000136881,,Q14032,Q14032,HGNC:932 +GARD:0017174,Orphanet,238505,ORPHA:238505,1,CD27,"[S152, Tp55]",CD27 molecule,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:22197273],186711,ENSG00000139193,1876,P26842,P26842,HGNC:11922 +GARD:0017175,Orphanet,238523,ORPHA:238523,3,SLC3A1,"[ATR1, CSNU1, D2H, NBAT, RBAT]",solute carrier family 3 member 1,gene with protein product,2p21,Role in the phenotype of,Assessed,[PMID:18234729],104614,ENSG00000138079,889,Q07837,Q07837,HGNC:11025 +GARD:0017175,Orphanet,238523,ORPHA:238523,3,PREPL,[KIAA0436],prolyl endopeptidase like,gene with protein product,2p21,Role in the phenotype of,Assessed,[PMID:18234729],609557,ENSG00000138078,2870,Q4J6C6,,HGNC:30228 +GARD:0017175,Orphanet,238523,ORPHA:238523,3,CAMKMT,"[CLNMT, CaM KMT]",calmodulin-lysine N-methyltransferase,gene with protein product,2p21,Role in the phenotype of,Assessed,[PMID:18234729],609559,ENSG00000143919,,Q7Z624,Q7Z624,HGNC:26276 +GARD:0017176,Orphanet,238557,ORPHA:238557,1,VHL,[VHL1],von Hippel-Lindau tumor suppressor,gene with protein product,3p25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:11987242, PMID:24115288]",608537,ENSG00000134086,,P40337,P40337,HGNC:12687 +GARD:0017177,Orphanet,238578,ORPHA:238578,1,TBX4,,T-box transcription factor 4,gene with protein product,17q23.2,Role in the phenotype of,Assessed,[PMID:20598276],601719,ENSG00000121075,,P57082,,HGNC:11603 +GARD:0017178,Orphanet,238613,ORPHA:238613,1,NSD1,"[ARA267, FLJ22263, KMT3B]",nuclear receptor binding SET domain protein 1,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:14997421],606681,ENSG00000165671,2696,Q96L73,Q96L73,HGNC:14234 +GARD:0017179,Orphanet,238670,ORPHA:238670,1,TRH,[prothyroliberin],thyrotropin releasing hormone,gene with protein product,3q22.1,Candidate gene tested in,Not yet assessed,[PMID:20687402],613879,ENSG00000170893,,P20396,P20396,HGNC:12298 +GARD:0017182,Orphanet,240071,ORPHA:240071,1,MAPT,"[FLJ31424, FTDP-17, G protein beta1/gamma2 subunit-interacting factor 1, MGC138549, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, microtubule-associated protein tau, isoform 4, protein phosphatase 1, regulatory subunit 103, tau, tau-40]",microtubule associated protein tau,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,,157140,ENSG00000186868,,P10636,P10636,HGNC:6893 +GARD:0017183,Orphanet,240085,ORPHA:240085,1,MAPT,"[FLJ31424, FTDP-17, G protein beta1/gamma2 subunit-interacting factor 1, MGC138549, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, microtubule-associated protein tau, isoform 4, protein phosphatase 1, regulatory subunit 103, tau, tau-40]",microtubule associated protein tau,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,,157140,ENSG00000186868,,P10636,P10636,HGNC:6893 +GARD:0017184,Orphanet,240760,ORPHA:240760,2,MRE11,"[AT-like disease, ATLD]","MRE11 homolog, double strand break repair nuclease",gene with protein product,11q21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21227757],600814,ENSG00000020922,,P49959,P49959,HGNC:7230 +GARD:0017184,Orphanet,240760,ORPHA:240760,2,RAD50,"[RAD50-2, hRad50]",RAD50 double strand break repair protein,gene with protein product,5q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19409520],604040,ENSG00000113522,,Q92878,Q92878,HGNC:9816 +GARD:0017185,Orphanet,243343,ORPHA:243343,1,DMGDH,,dimethylglycine dehydrogenase,gene with protein product,5q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:11231903],605849,ENSG00000132837,,Q9UI17,Q9UI17,HGNC:24475 +GARD:0017186,Orphanet,244305,ORPHA:244305,2,SLC34A1,"[NAPI-3, NPTIIa, Na+-phosphate cotransporter type II, SLC11, sodium/phosphate co-transporter, solute carrier family 17 (sodium phosphate), member 2]",solute carrier family 34 member 1,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12324554],182309,ENSG00000131183,1135,Q06495,Q06495,HGNC:11019 +GARD:0017186,Orphanet,244305,ORPHA:244305,2,SLC9A3R1,"[EBP50, NHERF, NHERF1]",SLC9A3 regulator 1,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18784102],604990,ENSG00000109062,,O14745,O14745,HGNC:11075 +GARD:0017187,Orphanet,247198,ORPHA:247198,2,SEPSECS,"[O-phosphoseryl-tRNA(Sec) selenium transferase, SLA, SLA/LP, soluble liver antigen/liver pancreas antigen]",Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase,gene with protein product,4p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20920667],613009,ENSG00000109618,,Q9HD40,Q9HD40,HGNC:30605 +GARD:0017187,Orphanet,247198,ORPHA:247198,2,VPS53,"[FLJ10979, HCCS1, hepatocellular carcinoma suppressor 1]",VPS53 subunit of GARP complex,gene with protein product,17p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24577744],615850,ENSG00000141252,,Q5VIR6,Q5VIR6,HGNC:25608 +GARD:0017188,Orphanet,247262,ORPHA:247262,7,PIGW,"[FLJ37433, Gwt1]",phosphatidylinositol glycan anchor biosynthesis class W,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:24367057],610275,ENSG00000277161,,Q7Z7B1,Q7Z7B1,HGNC:23213 +GARD:0017188,Orphanet,247262,ORPHA:247262,7,PIGO,"[DKFZp434M222, FLJ00135]",phosphatidylinositol glycan anchor biosynthesis class O,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22683086],614730,ENSG00000165282,,Q8TEQ8,Q8TEQ8,HGNC:23215 +GARD:0017188,Orphanet,247262,ORPHA:247262,7,PGAP2,"[CWH43-N, Cell wall biogenesis 43 N-terminal homolog (S. cerevisiae), FGF receptor activating protein 1, FRAG1, cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)]",post-GPI attachment to proteins 2,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:23561846, PMID:23561847]",615187,ENSG00000148985,,Q9UHJ9,,HGNC:17893 +GARD:0017188,Orphanet,247262,ORPHA:247262,7,PIGY,[MGC14156],phosphatidylinositol glycan anchor biosynthesis class Y,gene with protein product,4q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26293662],610662,ENSG00000255072,,Q3MUY2,,HGNC:28213 +GARD:0017188,Orphanet,247262,ORPHA:247262,7,PGAP3,"[CAB2, MGC9753, PER1, PP1498, post-GPI attachment to proteins 3]",post-GPI attachment to proteins phospholipase 3,gene with protein product,17q12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24439110],611801,ENSG00000161395,,Q96FM1,,HGNC:23719 +GARD:0017188,Orphanet,247262,ORPHA:247262,7,PIGL,[N-acetylglucosaminylphosphatidylinositol deacetylase],phosphatidylinositol glycan anchor biosynthesis class L,gene with protein product,17p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25706356],605947,ENSG00000108474,,Q9Y2B2,Q9Y2B2,HGNC:8966 +GARD:0017188,Orphanet,247262,ORPHA:247262,7,PIGV,"[FLJ20477, GPI mannosyltransferase 2, dol-P-Man dependent GPI mannosyltransferase]",phosphatidylinositol glycan anchor biosynthesis class V,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:24129430],610274,ENSG00000060642,,Q9NUD9,Q9NUD9,HGNC:26031 +GARD:0017189,Orphanet,247511,ORPHA:247511,6,EPO,[EP],erythropoietin,gene with protein product,7q22.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:29514032],133170,ENSG00000130427,,P01588,P01588,HGNC:3415 +GARD:0017189,Orphanet,247511,ORPHA:247511,6,EGLN1,"[HIF prolyl hydroxylase 2, HIFPH2, PHD2, SM-20, ZMYND6]",egl-9 family hypoxia inducible factor 1,gene with protein product,1q42.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:16407130, PMID:24115288]",606425,ENSG00000135766,2833,Q9GZT9,Q9GZT9,HGNC:1232 +GARD:0017189,Orphanet,247511,ORPHA:247511,6,HBA2,[HBA-T2],hemoglobin subunit alpha 2,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:34440325],141850,ENSG00000188536,,P69905,P69905,HGNC:4824 +GARD:0017189,Orphanet,247511,ORPHA:247511,6,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:34440325],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0017189,Orphanet,247511,ORPHA:247511,6,HBA1,[HBA-T3],hemoglobin subunit alpha 1,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:34440325],141800,ENSG00000206172,,P69905,P69905,HGNC:4823 +GARD:0017189,Orphanet,247511,ORPHA:247511,6,EPAS1,"[HIF-1 alpha-like factor, HIF2A, HLF, MOP2, PASD2, bHLHe73]",endothelial PAS domain protein 1,gene with protein product,2p21,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:18184961, PMID:24115288]",603349,ENSG00000116016,3148,Q99814,Q99814,HGNC:3374 +GARD:0017190,Orphanet,247522,ORPHA:247522,1,RPGR,[CORDX1],retinitis pigmentosa GTPase regulator,gene with protein product,Xp11.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:12920075, PMID:16055928]",312610,ENSG00000156313,,Q92834,Q92834,HGNC:10295 +GARD:0017191,Orphanet,247623,ORPHA:247623,1,ALPL,"[TNALP, TNAP, TNSALP, tissue non-specific alkaline phosphatase]","alkaline phosphatase, biomineralization associated",gene with protein product,1p36.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10737975, PMID:17916236, PMID:20301329]",171760,ENSG00000162551,,P05186,P05186,HGNC:438 +GARD:0017192,Orphanet,247651,ORPHA:247651,1,ALPL,"[TNALP, TNAP, TNSALP, tissue non-specific alkaline phosphatase]","alkaline phosphatase, biomineralization associated",gene with protein product,1p36.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10737975, PMID:17916236, PMID:20301329]",171760,ENSG00000162551,,P05186,P05186,HGNC:438 +GARD:0017193,Orphanet,247676,ORPHA:247676,1,ALPL,"[TNALP, TNAP, TNSALP, tissue non-specific alkaline phosphatase]","alkaline phosphatase, biomineralization associated",gene with protein product,1p36.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10737975, PMID:17916236, PMID:20301329]",171760,ENSG00000162551,,P05186,P05186,HGNC:438 +GARD:0017194,Orphanet,247685,ORPHA:247685,1,ALPL,"[TNALP, TNAP, TNSALP, tissue non-specific alkaline phosphatase]","alkaline phosphatase, biomineralization associated",gene with protein product,1p36.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10737975, PMID:17916236, PMID:20301329]",171760,ENSG00000162551,,P05186,P05186,HGNC:438 +GARD:0017195,Orphanet,247768,ORPHA:247768,1,WNT4,[WNT-4],Wnt family member 4,gene with protein product,1p36.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:16959810, PMID:18182450]",603490,ENSG00000162552,,P56705,P56705,HGNC:12783 +GARD:0017196,Orphanet,247794,ORPHA:247794,1,SLC16A12,"[MCT12, monocarboxylic acid transporter 12]",solute carrier family 16 member 12,gene with protein product,10q23.31,Disease-causing germline mutation(s) in,Assessed,[PMID:18304496],611910,ENSG00000152779,999,Q6ZSM3,,HGNC:23094 +GARD:0017197,Orphanet,247806,ORPHA:247806,1,APC,"[DP2, DP2.5, DP3, PPP1R46, protein phosphatase 1, regulatory subunit 46]",APC regulator of WNT signaling pathway,gene with protein product,5q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17489848],611731,ENSG00000134982,,P25054,P25054,HGNC:583 +GARD:0017198,Orphanet,247820,ORPHA:247820,1,NECTIN4,"[LNIR, PRR4, nectin-4]",nectin cell adhesion molecule 4,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20691405, PMID:21346770]",609607,ENSG00000143217,3112,Q96NY8,Q96NY8,HGNC:19688 +GARD:0017200,Orphanet,247834,ORPHA:247834,1,RP1L1,"[DCDC4B, doublecortin domain containing 4B]",RP1 like 1,gene with protein product,8p23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20826268],608581,ENSG00000183638,,Q8IWN7,,HGNC:15946 +GARD:0017201,Orphanet,247868,ORPHA:247868,1,NLRP12,"[CLR19.3, Monarch1, PAN6, PYPAF7, RNO2, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12]",NLR family pyrin domain containing 12,gene with protein product,19q13.42,Disease-causing germline mutation(s) in,Assessed,[PMID:18230725],609648,ENSG00000142405,1779,P59046,,HGNC:22938 +GARD:0017202,Orphanet,248408,ORPHA:248408,3,FGB,,fibrinogen beta chain,gene with protein product,4q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22955321],134830,ENSG00000171564,,P02675,P02675,HGNC:3662 +GARD:0017202,Orphanet,248408,ORPHA:248408,3,FGA,,fibrinogen alpha chain,gene with protein product,4q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:14615374],134820,ENSG00000171560,,P02671,P02671,HGNC:3661 +GARD:0017202,Orphanet,248408,ORPHA:248408,3,FGG,,fibrinogen gamma chain,gene with protein product,4q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:15632207],134850,ENSG00000171557,,P02679,P02679,HGNC:3694 +GARD:0017203,Orphanet,250984,ORPHA:250984,5,COL9A3,"[DJ885L7.4.1, EDM3, FLJ90759, IDD, MED, collagen type IX proteoglycan]",collagen type IX alpha 3 chain,gene with protein product,20q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24273071],120270,ENSG00000092758,,Q14050,Q14050,HGNC:2219 +GARD:0017203,Orphanet,250984,ORPHA:250984,5,COL9A2,[MED],collagen type IX alpha 2 chain,gene with protein product,1p34.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21671392],120260,ENSG00000049089,,Q14055,Q14055,HGNC:2218 +GARD:0017203,Orphanet,250984,ORPHA:250984,5,LOXL3,,lysyl oxidase like 3,gene with protein product,2p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30362103],607163,ENSG00000115318,,P58215,P58215,HGNC:13869 +GARD:0017203,Orphanet,250984,ORPHA:250984,5,COL11A1,"[CO11A1, STL2, collagen XI, alpha-1 polypeptide]",collagen type XI alpha 1 chain,gene with protein product,1p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23922384],120280,ENSG00000060718,,P12107,P12107,HGNC:2186 +GARD:0017203,Orphanet,250984,ORPHA:250984,5,COL9A1,,collagen type IX alpha 1 chain,gene with protein product,6q13,Disease-causing germline mutation(s) in,Assessed,,120210,ENSG00000112280,,P20849,P20849,HGNC:2217 +GARD:0017204,Orphanet,251028,ORPHA:251028,1,SATB2,"[FLJ21474, KIAA1034]",SATB homeobox 2,gene with protein product,2q33.1,Role in the phenotype of,Assessed,"[PMID:19668335, PMID:21343628]",608148,ENSG00000119042,,Q9UPW6,Q9UPW6,HGNC:21637 +GARD:0017205,Orphanet,251279,ORPHA:251279,1,MFRP,"[C1QTNF5, C1q and TNF related 5, FLJ30570, NNO2, membrane-type frizzled-related protein, rd6]",membrane frizzled-related protein,gene with protein product,11q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17167404],606227,ENSG00000235718,,Q9BY79,,HGNC:18121 +GARD:0017206,Orphanet,251282,ORPHA:251282,1,VAMP1,[VAMP-1],vesicle associated membrane protein 1,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:22958904],185880,ENSG00000139190,,P23763,P23763,HGNC:12642 +GARD:0017207,Orphanet,251290,ORPHA:251290,1,MSX2,"[CRS2, FPP, HOX8, MSH, PFM, craniosynostosis, type 2]",msh homeobox 2,gene with protein product,5q35.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,,123101,ENSG00000120149,,P35548,P35548,HGNC:7392 +GARD:0017208,Orphanet,251295,ORPHA:251295,1,CRB1,[LCA8],crumbs cell polarity complex component 1,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:15623792],604210,ENSG00000134376,,P82279,P82279,HGNC:2343 +GARD:0017209,Orphanet,251347,ORPHA:251347,1,MRE11,"[AT-like disease, ATLD]","MRE11 homolog, double strand break repair nuclease",gene with protein product,11q21,Disease-causing germline mutation(s) in,Assessed,[PMID:10612394],600814,ENSG00000020922,,P49959,P49959,HGNC:7230 +GARD:0017210,Orphanet,251383,ORPHA:251383,1,NSDHL,"[H105e3, SDR31E1, XAP104, short chain dehydrogenase/reductase family 31E, member 1]",NAD(P) dependent steroid dehydrogenase-like,gene with protein product,Xq28,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21129721, PMID:21290788]",300275,ENSG00000147383,,Q15738,Q15738,HGNC:13398 +GARD:0017211,Orphanet,251510,ORPHA:251510,12,NR5A1,"[AD4BP, ELP, FTZ1, SF-1, SF1, hSF-1, steroidogenic factor 1]",nuclear receptor subfamily 5 group A member 1,gene with protein product,9q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25580123],184757,ENSG00000136931,632,Q13285,Q13285,HGNC:7983 +GARD:0017211,Orphanet,251510,ORPHA:251510,12,DMRT3,[testis-specific protein],doublesex and mab-3 related transcription factor 3,gene with protein product,9p24.3,Candidate gene tested in,Not yet assessed,[PMID:17644778],614754,ENSG00000064218,,Q9NQL9,Q9NQL9,HGNC:13909 +GARD:0017211,Orphanet,251510,ORPHA:251510,12,SOX9,[SRA1],SRY-box transcription factor 9,gene with protein product,17q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22051515],608160,ENSG00000125398,,P48436,P48436,HGNC:11204 +GARD:0017211,Orphanet,251510,ORPHA:251510,12,GATA4,,GATA binding protein 4,gene with protein product,8p23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21220346],600576,ENSG00000136574,,P43694,P43694,HGNC:4173 +GARD:0017211,Orphanet,251510,ORPHA:251510,12,VAMP7,"[TI-VAMP, VAMP-7]",vesicle associated membrane protein 7,gene with protein product,Xq28; Yq12,Role in the phenotype of,Assessed,[PMID:24880616],300053,ENSG00000124333,,P51809,P51809,HGNC:11486 +GARD:0017211,Orphanet,251510,ORPHA:251510,12,DHX37,"[Dhr1, KIAA1517, MGC2695, MGC4322]",DEAH-box helicase 37,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:31337883],617362,ENSG00000150990,,Q8IY37,Q8IY37,HGNC:17210 +GARD:0017211,Orphanet,251510,ORPHA:251510,12,MAP3K1,"[MAPKKK1, MEKK]",mitogen-activated protein kinase kinase kinase 1,gene with protein product,5q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21129722],600982,ENSG00000095015,2069,Q13233,Q13233,HGNC:6848 +GARD:0017211,Orphanet,251510,ORPHA:251510,12,SRY,"[TDF, testis-determining factor]",sex determining region Y,gene with protein product,Yp11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17493621],480000,ENSG00000184895,,Q05066,Q05066,HGNC:11311 +GARD:0017211,Orphanet,251510,ORPHA:251510,12,WT1,"[AWT1, NPHS4, WAGR, WIT-2]",WT1 transcription factor,gene with protein product,11p13,Candidate gene tested in,Not yet assessed,[PMID:25613702],607102,ENSG00000184937,,P19544,P19544,HGNC:12796 +GARD:0017211,Orphanet,251510,ORPHA:251510,12,WWOX,"[FOR, SDR41C1, WOX1, short chain dehydrogenase/reductase family 41C, member 1]",WW domain containing oxidoreductase,gene with protein product,16q23.1-q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22071891],605131,ENSG00000186153,,Q9NZC7,Q9NZC7,HGNC:12799 +GARD:0017211,Orphanet,251510,ORPHA:251510,12,NR0B1,"[AHCH, DAX1]",nuclear receptor subfamily 0 group B member 1,gene with protein product,Xp21.2,Role in the phenotype of,Assessed,[PMID:18384427],300473,ENSG00000169297,635,P51843,P51843,HGNC:7960 +GARD:0017211,Orphanet,251510,ORPHA:251510,12,ZFPM2,"[FOG2, ZC2HC11B, ZNF89B, hFOG-2]","zinc finger protein, FOG family member 2",gene with protein product,8q23,Disease-causing germline mutation(s) in,Assessed,[PMID:24549039],603693,ENSG00000169946,,Q8WW38,Q8WW38,HGNC:16700 +GARD:0017213,Orphanet,251523,ORPHA:251523,1,PSTPIP1,"[CD2 antigen-binding protein 1, CD2 cytoplasmic tail-binding protein, CD2BP1, CD2BP1L, CD2BP1S, H-PIP, PAPAS, PEST phosphatase-interacting protein 1, PSTPIP]",proline-serine-threonine phosphatase interacting protein 1,gene with protein product,15q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26025129],606347,ENSG00000140368,,O43586,O43586,HGNC:9580 +GARD:0017214,Orphanet,251858,ORPHA:251858,1,SUFU,"[PRO1280, SUFUH, SUFUXL]",SUFU negative regulator of hedgehog signaling,gene with protein product,10q24.32,Major susceptibility factor in,Assessed,"[PMID:12068298, PMID:19833601, PMID:21188540, PMID:22508808]",607035,ENSG00000107882,,Q9UMX1,Q9UMX1,HGNC:16466 +GARD:0017215,Orphanet,251863,ORPHA:251863,1,SUFU,"[PRO1280, SUFUH, SUFUXL]",SUFU negative regulator of hedgehog signaling,gene with protein product,10q24.32,Major susceptibility factor in,Assessed,"[PMID:12068298, PMID:19833601, PMID:21188540, PMID:22508808]",607035,ENSG00000107882,,Q9UMX1,Q9UMX1,HGNC:16466 +GARD:0017217,Orphanet,252202,ORPHA:252202,4,MLH1,"[FCC2, HNPCC, HNPCC2]",mutL homolog 1,gene with protein product,3p22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20442441],120436,ENSG00000076242,,P40692,P40692,HGNC:7127 +GARD:0017217,Orphanet,252202,ORPHA:252202,4,PMS2,"[HNPCC4, H_DJ0042M02.9, MLH4]","PMS1 homolog 2, mismatch repair system component",gene with protein product,7p22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20442441, PMID:23483711]",600259,ENSG00000122512,,P54278,P54278,HGNC:9122 +GARD:0017217,Orphanet,252202,ORPHA:252202,4,MSH6,,mutS homolog 6,gene with protein product,2p16.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20442441, PMID:23483711]",600678,ENSG00000116062,,P52701,P52701,HGNC:7329 +GARD:0017217,Orphanet,252202,ORPHA:252202,4,MSH2,"[DNA mismatch repair protein Msh2, HNPCC, HNPCC1]",mutS homolog 2,gene with protein product,2p21-p16.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20442441, PMID:23483711]",609309,ENSG00000095002,,P43246,P43246,HGNC:7325 +GARD:0017220,Orphanet,254525,ORPHA:254525,3,DLK1,"[Delta1, FA1, Pref-1, ZOG, pG2]",delta like non-canonical Notch ligand 1,gene with protein product,14q32.2,Role in the phenotype of,Assessed,[PMID:18176563],176290,ENSG00000185559,,P80370,P80370,HGNC:2907 +GARD:0017220,Orphanet,254525,ORPHA:254525,3,RTL1,"[HUR1, MART1, Mar1, PEG11, SIRH2, Sushi-Ichi retrotransposon homolog 2, mammalian retrotransposon-derived 1, paternally expressed 11]",retrotransposon Gag like 1,gene with protein product,14q32.2,Role in the phenotype of,Assessed,[PMID:18176563],611896,ENSG00000254656,,A6NKG5,,HGNC:14665 +GARD:0017220,Orphanet,254525,ORPHA:254525,3,MEG3,"[GTL2, LINC00023, NCRNA00023, long intergenic non-protein coding RNA 23, non-protein coding RNA 23, onco-lncRNA-83]",maternally expressed 3,Non-coding RNA,14q32.2,Role in the phenotype of,Assessed,"[PMID:18176563, PMID:24801763]",605636,ENSG00000214548,,,,HGNC:14575 +GARD:0017221,Orphanet,254528,ORPHA:254528,3,DLK1,"[Delta1, FA1, Pref-1, ZOG, pG2]",delta like non-canonical Notch ligand 1,gene with protein product,14q32.2,Role in the phenotype of,Assessed,[PMID:18176563],176290,ENSG00000185559,,P80370,P80370,HGNC:2907 +GARD:0017221,Orphanet,254528,ORPHA:254528,3,RTL1,"[HUR1, MART1, Mar1, PEG11, SIRH2, Sushi-Ichi retrotransposon homolog 2, mammalian retrotransposon-derived 1, paternally expressed 11]",retrotransposon Gag like 1,gene with protein product,14q32.2,Role in the phenotype of,Assessed,[PMID:18176563],611896,ENSG00000254656,,A6NKG5,,HGNC:14665 +GARD:0017221,Orphanet,254528,ORPHA:254528,3,MEG3,"[GTL2, LINC00023, NCRNA00023, long intergenic non-protein coding RNA 23, non-protein coding RNA 23, onco-lncRNA-83]",maternally expressed 3,Non-coding RNA,14q32.2,Role in the phenotype of,Assessed,"[PMID:18176563, PMID:24801763]",605636,ENSG00000214548,,,,HGNC:14575 +GARD:0017222,Orphanet,254531,ORPHA:254531,3,DLK1,"[Delta1, FA1, Pref-1, ZOG, pG2]",delta like non-canonical Notch ligand 1,gene with protein product,14q32.2,Role in the phenotype of,Assessed,[PMID:18176563],176290,ENSG00000185559,,P80370,P80370,HGNC:2907 +GARD:0017222,Orphanet,254531,ORPHA:254531,3,RTL1,"[HUR1, MART1, Mar1, PEG11, SIRH2, Sushi-Ichi retrotransposon homolog 2, mammalian retrotransposon-derived 1, paternally expressed 11]",retrotransposon Gag like 1,gene with protein product,14q32.2,Role in the phenotype of,Assessed,[PMID:18176563],611896,ENSG00000254656,,A6NKG5,,HGNC:14665 +GARD:0017222,Orphanet,254531,ORPHA:254531,3,MEG3,"[GTL2, LINC00023, NCRNA00023, long intergenic non-protein coding RNA 23, non-protein coding RNA 23, onco-lncRNA-83]",maternally expressed 3,Non-coding RNA,14q32.2,Role in the phenotype of,Assessed,"[PMID:18176563, PMID:24801763]",605636,ENSG00000214548,,,,HGNC:14575 +GARD:0017223,Orphanet,254534,ORPHA:254534,3,DLK1,"[Delta1, FA1, Pref-1, ZOG, pG2]",delta like non-canonical Notch ligand 1,gene with protein product,14q32.2,Role in the phenotype of,Assessed,[PMID:18176563],176290,ENSG00000185559,,P80370,P80370,HGNC:2907 +GARD:0017223,Orphanet,254534,ORPHA:254534,3,RTL1,"[HUR1, MART1, Mar1, PEG11, SIRH2, Sushi-Ichi retrotransposon homolog 2, mammalian retrotransposon-derived 1, paternally expressed 11]",retrotransposon Gag like 1,gene with protein product,14q32.2,Role in the phenotype of,Assessed,[PMID:18176563],611896,ENSG00000254656,,A6NKG5,,HGNC:14665 +GARD:0017223,Orphanet,254534,ORPHA:254534,3,MEG3,"[GTL2, LINC00023, NCRNA00023, long intergenic non-protein coding RNA 23, non-protein coding RNA 23, onco-lncRNA-83]",maternally expressed 3,Non-coding RNA,14q32.2,Role in the phenotype of,Assessed,"[PMID:18176563, PMID:24801763]",605636,ENSG00000214548,,,,HGNC:14575 +GARD:0017224,Orphanet,254688,ORPHA:254688,4,C11ORF80,"[FLJ22531, TOPOVIBL]",chromosome 11 open reading frame 80,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30388401],616109,ENSG00000173715,,Q8N6T0,,HGNC:26197 +GARD:0017224,Orphanet,254688,ORPHA:254688,4,NLRP7,"[CLR19.4, NOD12, PAN7, PYPAF3, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7]",NLR family pyrin domain containing 7,gene with protein product,19q13.42,Disease-causing germline mutation(s) in,Assessed,"[PMID:19246479, PMID:24533231]",609661,ENSG00000167634,1774,Q8WX94,,HGNC:22947 +GARD:0017224,Orphanet,254688,ORPHA:254688,4,MEI1,"[MGC40042, SPATA38, spermatogenesis associated 38]",meiotic double-stranded break formation protein 1,gene with protein product,22q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30388401],608797,ENSG00000167077,,Q5TIA1,,HGNC:28613 +GARD:0017224,Orphanet,254688,ORPHA:254688,4,KHDC3L,"[ECAT1, ES cell associated transcript 1]","KH domain containing 3 like, subcortical maternal complex member",gene with protein product,6q13,Disease-causing germline mutation(s) in,Assessed,"[PMID:21885028, PMID:24533231]",611687,ENSG00000203908,,Q587J8,,HGNC:33699 +GARD:0017226,Orphanet,254857,ORPHA:254857,1,MT-TT,[trnT],mitochondrially encoded tRNA-Thr (ACN),Non-coding RNA,mitochondria,Candidate gene tested in,Not yet assessed,[PMID:1645537],590090,ENSG00000210195,,,,HGNC:7499 +GARD:0017227,Orphanet,254864,ORPHA:254864,2,TRMU,"[FLJ10140, MTO2, MTU1, mitochondrial tRNA-specific 2-thiouridylase 1]",tRNA mitochondrial 2-thiouridylase,gene with protein product,22q13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:21931168],610230,ENSG00000100416,,O75648,O75648,HGNC:25481 +GARD:0017227,Orphanet,254864,ORPHA:254864,2,MT-TE,[trnE],mitochondrially encoded tRNA-Glu (GAA/G),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:19720722],590025,ENSG00000210194,,,,HGNC:7479 +GARD:0017228,Orphanet,254875,ORPHA:254875,1,TK2,"[SCA31, mitochondrial thymidine kinase]",thymidine kinase 2,gene with protein product,16q21,Disease-causing germline mutation(s) in,Assessed,[PMID:23230576],188250,ENSG00000166548,,O00142,O00142,HGNC:11831 +GARD:0017229,Orphanet,254881,ORPHA:254881,1,POLG,"[POLG1, POLGA]","DNA polymerase gamma, catalytic subunit",gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:15824347],174763,ENSG00000140521,,P54098,P54098,HGNC:9179 +GARD:0017230,Orphanet,254898,ORPHA:254898,1,PDSS1,"[COQ1, COQ1A, TPT, coenzyme Q1 homolog (yeast)]",decaprenyl diphosphate synthase subunit 1,gene with protein product,10p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17332895],607429,ENSG00000148459,,Q5T2R2,Q5T2R2,HGNC:17759 +GARD:0017231,Orphanet,254902,ORPHA:254902,1,BCS1L,"[BCS, BJS, Bjornstad syndrome, GRACILE syndrome, Hs.6719, h-BCS]","BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone",gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:11528392],603647,ENSG00000074582,,Q9Y276,Q9Y276,HGNC:1020 +GARD:0017232,Orphanet,254920,ORPHA:254920,1,MRPS16,[CGI-132],mitochondrial ribosomal protein S16,gene with protein product,10q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:15505824],609204,ENSG00000182180,,Q9Y3D3,Q9Y3D3,HGNC:14048 +GARD:0017233,Orphanet,254925,ORPHA:254925,1,TUFM,"[EF-TuMT, EFTU, EFTu]","Tu translation elongation factor, mitochondrial",gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17160893],602389,ENSG00000178952,,P49411,P49411,HGNC:12420 +GARD:0017234,Orphanet,254930,ORPHA:254930,1,MTRFR,"[COXPD7, FLJ38663, SPG55]",mitochondrial translation release factor in rescue,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20598281],613541,ENSG00000130921,,Q9H3J6,,HGNC:26784 +GARD:0017235,Orphanet,255132,ORPHA:255132,1,GLRX5,"[GRX5, PR01238]",glutaredoxin 5,gene with protein product,14q32.13,Disease-causing germline mutation(s) in,Assessed,[PMID:17485548],609588,ENSG00000182512,,Q86SX6,Q86SX6,HGNC:20134 +GARD:0017236,Orphanet,255138,ORPHA:255138,1,PDHB,[PDHE1B],pyruvate dehydrogenase E1 subunit beta,gene with protein product,3p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:15138885],179060,ENSG00000168291,,P11177,P11177,HGNC:8808 +GARD:0017237,Orphanet,255182,ORPHA:255182,1,PDHX,"[DLDBP, E3BP, OPDX, PDX1, proX]",pyruvate dehydrogenase complex component X,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,[PMID:9399911],608769,ENSG00000110435,,O00330,O00330,HGNC:21350 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFS3,"[CI-30, NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial, complex I 30kDa subunit]",NADH:ubiquinone oxidoreductase core subunit S3,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:14729820, PMID:22644603]",603846,ENSG00000213619,,O75489,O75489,HGNC:7710 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFV2,"[CI-24k, NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial, complex I 24kDa subunit]",NADH:ubiquinone oxidoreductase core subunit V2,gene with protein product,18p11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:26008862],600532,ENSG00000178127,,P19404,P19404,HGNC:7717 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,SURF1,"[SHY1, surfeit locus protein 1]",SURF1 cytochrome c oxidase assembly factor,gene with protein product,9q34.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23829769],185620,ENSG00000148290,,Q15526,Q15526,HGNC:11474 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFS4,"[AQDQ, CI-18, complex I 18kDa subunit]",NADH:ubiquinone oxidoreductase subunit S4,gene with protein product,5q11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:19107570, PMID:19364667, PMID:22644603]",602694,ENSG00000164258,,O43181,O43181,HGNC:7711 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFA2,"[B8, complex I B8 subunit]",NADH:ubiquinone oxidoreductase subunit A2,gene with protein product,5q31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:18513682, PMID:22644603]",602137,ENSG00000131495,,O43678,O43678,HGNC:7685 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFAF5,[dJ842G6.1],NADH:ubiquinone oxidoreductase complex assembly factor 5,gene with protein product,20p12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:19542079, PMID:22644603]",612360,ENSG00000101247,,Q5TEU4,Q5TEU4,HGNC:15899 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,PDHA1,"[pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial]",pyruvate dehydrogenase E1 subunit alpha 1,gene with protein product,Xp22.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:15384102, PMID:20002461, PMID:8498846]",300502,ENSG00000131828,,P08559,P08559,HGNC:8806 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFS1,"[CI-75k, NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial, complex I 75kDa subunit]",NADH:ubiquinone oxidoreductase core subunit S1,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15824269, PMID:22644603]",157655,ENSG00000023228,,P28331,P28331,HGNC:7707 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,SLC19A3,"[THTR2, thiamine transporter 2]",solute carrier family 19 member 3,gene with protein product,2q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23423671],606152,ENSG00000135917,1016,Q9BZV2,Q9BZV2,HGNC:16266 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFV1,"[CI-51K, NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial, complex I 51kDa subunit]",NADH:ubiquinone oxidoreductase core subunit V1,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21696386, PMID:22644603, PMID:23266820]",161015,ENSG00000167792,,P49821,P49821,HGNC:7716 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,MTFMT,[FMT1],mitochondrial methionyl-tRNA formyltransferase,gene with protein product,15q22.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22499348, PMID:23499752, PMID:24461907]",611766,ENSG00000103707,,Q96DP5,Q96DP5,HGNC:29666 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFA13,"[B16.6, CDA016, CGI-39, GRIM-19, GRIM19, complex I B16.6 subunit]",NADH:ubiquinone oxidoreductase subunit A13,gene with protein product,19p13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:25901006],609435,ENSG00000186010,,Q9P0J0,Q9P0J0,HGNC:17194 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,LIPT1,"[MGC12290, MGC13378]",lipoyltransferase 1,gene with protein product,2q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24341803],610284,ENSG00000144182,,Q9Y234,Q9Y234,HGNC:29569 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,ECHS1,"[SCEH, short chain enoyl-CoA hydratase]","enoyl-CoA hydratase, short chain 1",gene with protein product,10q26.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25393721],602292,ENSG00000127884,,P30084,P30084,HGNC:3151 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFA4,"[CI-9k, COXFA4, MISTR1, MLRQ, MRCAF1, NADH-ubiquinone oxidoreductase MLRQ subunit, complex I 9kDa subunit, cytochrome c oxidase subunit FA4, mitochondrial respiratory chain associated factor 1, mitochondrial stress response 1]",NDUFA4 mitochondrial complex associated,gene with protein product,7p21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23746447],603833,ENSG00000189043,,O00483,O00483,HGNC:7687 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFAF2,"[B17.2L, MMTN, Myc-induced mitochondrial protein, mimitin]",NADH:ubiquinone oxidoreductase complex assembly factor 2,gene with protein product,5q12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20818383, PMID:22644603]",609653,ENSG00000164182,,Q8N183,Q8N183,HGNC:28086 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFS2,"[CI-49, NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial, complex I 49kDa subunit]",NADH:ubiquinone oxidoreductase core subunit S2,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23266820],602985,ENSG00000158864,,O75306,O75306,HGNC:7708 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFA10,"[CI-42k, complex I 42kDa subunit]",NADH:ubiquinone oxidoreductase subunit A10,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21150889, PMID:22644603]",603835,ENSG00000130414,,O95299,O95299,HGNC:7684 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFA12,"[B17.2, DAP13, complex I B17.2 subunit]",NADH:ubiquinone oxidoreductase subunit A12,gene with protein product,12q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:21617257, PMID:22644603]",614530,ENSG00000184752,,Q9UI09,Q9UI09,HGNC:23987 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,TACO1,[translational activator of COX I],translational activator of cytochrome c oxidase I,gene with protein product,17q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19503089, PMID:20727754, PMID:25044680]",612958,ENSG00000136463,,Q9BSH4,Q9BSH4,HGNC:24316 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFS7,"[CI-20, FLJ45860, FLJ46880, NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial, PSST, complex I 20kDa subunit]",NADH:ubiquinone oxidoreductase core subunit S7,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:17275378, PMID:17604671, PMID:22644603]",601825,ENSG00000115286,,O75251,O75251,HGNC:7714 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,PET100,,PET100 cytochrome c oxidase chaperone,gene with protein product,19p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24462369],614770,ENSG00000229833,,P0DJ07,,HGNC:40038 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,COX15,[CEMCOX2],cytochrome c oxidase assembly homolog COX15,gene with protein product,10q24.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15235026, PMID:15863660]",603646,ENSG00000014919,,Q7KZN9,Q7KZN9,HGNC:2263 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,FOXRED1,[H17],FAD dependent oxidoreductase domain containing 1,gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20818383, PMID:22644603]",613622,ENSG00000110074,,Q96CU9,,HGNC:26927 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFAF6,[MGC40214],NADH:ubiquinone oxidoreductase complex assembly factor 6,gene with protein product,8q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18614015, PMID:22644603]",612392,ENSG00000156170,,Q330K2,Q330K2,HGNC:28625 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFA9,"['short chain dehydrogenase/reductase family 22E, member 1', CI-39k, COQ11, Complex I 39kDa subunit, SDR22E1, Short chain dehydrogenase/reductase family 22E, member 1, complex I 39kDa subunit]",NADH:ubiquinone oxidoreductase subunit A9,gene with protein product,12p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22114105],603834,ENSG00000139180,,Q16795,Q16795,HGNC:7693 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,SDHA,"[FP, SDHF, flavoprotein subunit of complex II, succinate dehydrogenase [ubiquinone] flavoprotein subunit]",succinate dehydrogenase complex flavoprotein subunit A,gene with protein product,5p15.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:16361598, PMID:24781757]",600857,ENSG00000073578,,P31040,P31040,HGNC:10680 +GARD:0017238,Orphanet,255241,ORPHA:255241,28,NDUFS8,"[CI-23k, NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial, TYKY, complex I 23kDa subunit]",NADH:ubiquinone oxidoreductase core subunit S8,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15159508, PMID:22499348, PMID:22644603]",602141,ENSG00000110717,,O00217,O00217,HGNC:7715 +GARD:0017239,Orphanet,255249,ORPHA:255249,2,COQ2,"[4-hydroxybenzoate polyprenyltransferase, CL640, FLJ26072]","coenzyme Q2, polyprenyltransferase",gene with protein product,4q21.23,Disease-causing germline mutation(s) in,Assessed,,609825,ENSG00000173085,,Q96H96,Q96H96,HGNC:25223 +GARD:0017239,Orphanet,255249,ORPHA:255249,2,PDSS2,"[COQ1B, bA59I9.3]",decaprenyl diphosphate synthase subunit 2,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,"[PMID:17186472, PMID:20301352]",610564,ENSG00000164494,,Q86YH6,Q86YH6,HGNC:23041 +GARD:0017240,Orphanet,260305,ORPHA:260305,2,SLC25A38,[FLJ20551],solute carrier family 25 member 38,gene with protein product,3p22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19412178],610819,ENSG00000144659,1089,Q96DW6,,HGNC:26054 +GARD:0017240,Orphanet,260305,ORPHA:260305,2,HSPA9,"[75 kDa glucose-regulated protein, GRP75, PBP74, Stress-70 protein, mitochondrial, mortalin, mortalin2, mot-2, mthsp75]",heat shock protein family A (Hsp70) member 9,gene with protein product,5q31.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26491070],600548,ENSG00000113013,,P38646,P38646,HGNC:5244 +GARD:0017242,Orphanet,261190,ORPHA:261190,1,MEIS2,"[HsT18361, MRG1]",Meis homeobox 2,gene with protein product,15q14,Role in the phenotype of,Assessed,"[PMID:17163532, PMID:18458017, PMID:18561338, PMID:20425846, PMID:21504564, PMID:24678003]",601740,ENSG00000134138,,O14770,,HGNC:7001 +GARD:0017244,Orphanet,261222,ORPHA:261222,1,SH2B1,"[FLJ30542, SH2-B homolog, SH2B]",SH2B adaptor protein 1,gene with protein product,16p11.2,Role in the phenotype of,Assessed,,608937,ENSG00000178188,,Q9NRF2,Q9NRF2,HGNC:30417 +GARD:0017245,Orphanet,261330,ORPHA:261330,3,CRKL,,"CRK like proto-oncogene, adaptor protein",gene with protein product,22q11.21,Role in the phenotype of,Assessed,,602007,ENSG00000099942,,P46109,P46109,HGNC:2363 +GARD:0017245,Orphanet,261330,ORPHA:261330,3,MAPK1,"[ERK, ERK2, MAPK2, p41mapk]",mitogen-activated protein kinase 1,gene with protein product,22q11.22,Role in the phenotype of,Assessed,,176948,ENSG00000100030,1495,P28482,P28482,HGNC:6871 +GARD:0017245,Orphanet,261330,ORPHA:261330,3,BCR,"[ALL, CML, D22S662, PHL]",BCR activator of RhoGEF and GTPase,gene with protein product,22q11.23,Role in the phenotype of,Assessed,,151410,ENSG00000186716,2755,P11274,P11274,HGNC:1014 +GARD:0017247,Orphanet,261483,ORPHA:261483,1,FMR1,"[FMRP, FRAXA, MGC87458]",fragile X messenger ribonucleoprotein 1,gene with protein product,Xq27.3,Role in the phenotype of,Assessed,[PMID:19844254],309550,ENSG00000102081,,Q06787,,HGNC:3775 +GARD:0017248,Orphanet,261537,ORPHA:261537,1,ZEB2,"[KIAA0569, SIP-1, SIP1, SMAD interacting protein 1]",zinc finger E-box binding homeobox 2,gene with protein product,2q22.3,Role in the phenotype of,Assessed,[PMID:20301585],605802,ENSG00000169554,,O60315,O60315,HGNC:14881 +GARD:0017249,Orphanet,261552,ORPHA:261552,1,ZEB2,"[KIAA0569, SIP-1, SIP1, SMAD interacting protein 1]",zinc finger E-box binding homeobox 2,gene with protein product,2q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301585],605802,ENSG00000169554,,O60315,O60315,HGNC:14881 +GARD:0017250,Orphanet,261600,ORPHA:261600,1,JAG1,"[AHD, AWS, CD339, HJ1]",jagged canonical Notch ligand 1,gene with protein product,20p12.2,Role in the phenotype of,Assessed,[PMID:21934706],601920,ENSG00000101384,,P78504,P78504,HGNC:6188 +GARD:0017251,Orphanet,261619,ORPHA:261619,1,JAG1,"[AHD, AWS, CD339, HJ1]",jagged canonical Notch ligand 1,gene with protein product,20p12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21934706],601920,ENSG00000101384,,P78504,P78504,HGNC:6188 +GARD:0017252,Orphanet,261629,ORPHA:261629,1,NOTCH2,,notch receptor 2,gene with protein product,1p12,Disease-causing germline mutation(s) in,Assessed,[PMID:21934706],600275,ENSG00000134250,2859,Q04721,Q04721,HGNC:7882 +GARD:0017253,Orphanet,261652,ORPHA:261652,2,EHMT1,"[Eu-HMTase1, FLJ12879, FLJ40292, KIAA1876, KMT1D, bA188C12.1]",euchromatic histone lysine methyltransferase 1,gene with protein product,9q34.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20945554],607001,ENSG00000181090,2651,Q9H9B1,Q9H9B1,HGNC:24650 +GARD:0017253,Orphanet,261652,ORPHA:261652,2,KMT2C,"[HALR, Histone-lysine N-methyltransferase 2C, KIAA1506]",lysine methyltransferase 2C,gene with protein product,7q36.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29069077],606833,ENSG00000055609,2690,Q8NEZ4,Q8NEZ4,HGNC:13726 +GARD:0017254,Orphanet,263297,ORPHA:263297,1,GYG1,[glycogenin glucosyltransferase],glycogenin 1,gene with protein product,3q24,Disease-causing germline mutation(s) in,Assessed,[PMID:20357282],603942,ENSG00000163754,,P46976,P46976,HGNC:4699 +GARD:0017255,Orphanet,263347,ORPHA:263347,1,BEST1,"[BEST, BMD, Best disease, RP50]",bestrophin 1,gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:15452077],607854,ENSG00000167995,,O76090,O76090,HGNC:12703 +GARD:0017256,Orphanet,263458,ORPHA:263458,1,INSR,[CD220],insulin receptor,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:15161766],147670,ENSG00000171105,1800,P06213,P06213,HGNC:6091 +GARD:0017257,Orphanet,263524,ORPHA:263524,2,CPT2,[CPTASE],carnitine palmitoyltransferase 2,gene with protein product,1p32.3,Candidate gene tested in,Not yet assessed,[PMID:20934285],600650,ENSG00000157184,,P23786,P23786,HGNC:2330 +GARD:0017257,Orphanet,263524,ORPHA:263524,2,RANBP2,"[ADANE, NUP358, nucleoporin 358]",RAN binding protein 2,gene with protein product,2q13,Major susceptibility factor in,Not yet assessed,[PMID:19807769],601181,ENSG00000153201,,P49792,P49792,HGNC:9848 +GARD:0017258,Orphanet,263548,ORPHA:263548,2,CHST8,[GALNAC-4-ST1],carbohydrate sulfotransferase 8,gene with protein product,19q13.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22289416],610190,ENSG00000124302,,Q9H2A9,Q9H2A9,HGNC:15993 +GARD:0017258,Orphanet,263548,ORPHA:263548,2,FLG2,[IFPS],filaggrin 2,gene with protein product,1q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28884927],616284,ENSG00000143520,,Q5D862,Q5D862,HGNC:33276 +GARD:0017259,Orphanet,263553,ORPHA:263553,1,CDSN,[D6S586E],corneodesmosin,gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,,602593,ENSG00000204539,,Q15517,Q15517,HGNC:1802 +GARD:0017260,Orphanet,263662,ORPHA:263662,5,SUFU,"[PRO1280, SUFUH, SUFUXL]",SUFU negative regulator of hedgehog signaling,gene with protein product,10q24.32,Major susceptibility factor in,Assessed,[PMID:22958902],607035,ENSG00000107882,,Q9UMX1,Q9UMX1,HGNC:16466 +GARD:0017260,Orphanet,263662,ORPHA:263662,5,PDGFB,"[SSV, becaplermin, oncogene SIS]",platelet derived growth factor subunit B,gene with protein product,22q13.1,Candidate gene tested in,Not yet assessed,[PMID:3969118],190040,ENSG00000100311,,P01127,P01127,HGNC:8800 +GARD:0017260,Orphanet,263662,ORPHA:263662,5,SMARCE1,[BAF57],"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1",gene with protein product,17q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23377182],603111,ENSG00000073584,,Q969G3,Q969G3,HGNC:11109 +GARD:0017260,Orphanet,263662,ORPHA:263662,5,SMARCB1,"[BAF47, Ini1, PPP1R144, RDT, SNF5, Sfh1p, Snr1, hSNFS, integrase interactor 1, malignant rhabdoid tumor suppressor, protein phosphatase 1, regulatory subunit 144, sucrose nonfermenting, yeast, homolog-like 1]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1",gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:20930055],601607,ENSG00000099956,,Q12824,Q12824,HGNC:11103 +GARD:0017260,Orphanet,263662,ORPHA:263662,5,MN1,"[MGCR1, MGCR1-PEN, probable tumor suppressor protein MN1]","MN1 proto-oncogene, transcriptional regulator",gene with protein product,22q12.1,Candidate gene tested in,Not yet assessed,,156100,ENSG00000169184,,Q10571,,HGNC:7180 +GARD:0017261,Orphanet,264580,ORPHA:264580,2,PHKA2,,phosphorylase kinase regulatory subunit alpha 2,gene with protein product,Xp22.13,Disease-causing germline mutation(s) in,Assessed,,300798,ENSG00000044446,,P46019,P46019,HGNC:8926 +GARD:0017261,Orphanet,264580,ORPHA:264580,2,PHKG2,,phosphorylase kinase catalytic subunit gamma 2,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,,172471,ENSG00000156873,2147,P15735,P15735,HGNC:8931 +GARD:0017262,Orphanet,268114,ORPHA:268114,2,KRAS,"[K-Ras4B, KRAS1]","KRAS proto-oncogene, GTPase",gene with protein product,12p12.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:21079152],190070,ENSG00000133703,2824,P01116,P01116,HGNC:6407 +GARD:0017262,Orphanet,268114,ORPHA:268114,2,NRAS,[N-ras],"NRAS proto-oncogene, GTPase",gene with protein product,1p13.2,Disease-causing somatic mutation(s) in,Assessed,"[PMID:17517660, PMID:21079152]",164790,ENSG00000213281,2823,P01111,P01111,HGNC:7989 +GARD:0017263,Orphanet,268145,ORPHA:268145,3,BCKDHA,"[MSU, maple syrup urine disease]",branched chain keto acid dehydrogenase E1 subunit alpha,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301495],608348,ENSG00000248098,,P12694,P12694,HGNC:986 +GARD:0017263,Orphanet,268145,ORPHA:268145,3,DBT,"[BCKAD-E2, BCKDH-E2, BCOADC-E2, branched chain 2-oxo-acid dehydrogenase complex component E2, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial]",dihydrolipoamide branched chain transacylase E2,gene with protein product,1p21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301495],248610,ENSG00000137992,,P11182,P11182,HGNC:2698 +GARD:0017263,Orphanet,268145,ORPHA:268145,3,BCKDHB,"[2-oxoisovalerate dehydrogenase subunit beta, mitochondrial, maple syrup urine disease]",branched chain keto acid dehydrogenase E1 subunit beta,gene with protein product,6q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301495],248611,ENSG00000083123,,P21953,P21953,HGNC:987 +GARD:0017264,Orphanet,268162,ORPHA:268162,4,BCKDHA,"[MSU, maple syrup urine disease]",branched chain keto acid dehydrogenase E1 subunit alpha,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301495],608348,ENSG00000248098,,P12694,P12694,HGNC:986 +GARD:0017264,Orphanet,268162,ORPHA:268162,4,DBT,"[BCKAD-E2, BCKDH-E2, BCOADC-E2, branched chain 2-oxo-acid dehydrogenase complex component E2, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial]",dihydrolipoamide branched chain transacylase E2,gene with protein product,1p21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301495],248610,ENSG00000137992,,P11182,P11182,HGNC:2698 +GARD:0017264,Orphanet,268162,ORPHA:268162,4,BCKDHB,"[2-oxoisovalerate dehydrogenase subunit beta, mitochondrial, maple syrup urine disease]",branched chain keto acid dehydrogenase E1 subunit beta,gene with protein product,6q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301495],248611,ENSG00000083123,,P21953,P21953,HGNC:987 +GARD:0017264,Orphanet,268162,ORPHA:268162,4,PPM1K,"[BDP, DKFZp761G058, PP2C-type mitochondrial phosphoprotein phosphatase, PP2Ckappa, PP2Cm, Protein phosphatase 2C kappa, branched-chain α-ketoacid dehydrogenase phosphatase, branched-chain a-ketoacid dehydrogenase phosphatase, hPTMP, protein phosphatase 2C kappa]","protein phosphatase, Mg2+/Mn2+ dependent 1K",gene with protein product,4q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23086801],611065,ENSG00000163644,,Q8N3J5,Q8N3J5,HGNC:25415 +GARD:0017265,Orphanet,268173,ORPHA:268173,3,BCKDHA,"[MSU, maple syrup urine disease]",branched chain keto acid dehydrogenase E1 subunit alpha,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301495],608348,ENSG00000248098,,P12694,P12694,HGNC:986 +GARD:0017265,Orphanet,268173,ORPHA:268173,3,DBT,"[BCKAD-E2, BCKDH-E2, BCOADC-E2, branched chain 2-oxo-acid dehydrogenase complex component E2, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial]",dihydrolipoamide branched chain transacylase E2,gene with protein product,1p21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301495],248610,ENSG00000137992,,P11182,P11182,HGNC:2698 +GARD:0017265,Orphanet,268173,ORPHA:268173,3,BCKDHB,"[2-oxoisovalerate dehydrogenase subunit beta, mitochondrial, maple syrup urine disease]",branched chain keto acid dehydrogenase E1 subunit beta,gene with protein product,6q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301495],248611,ENSG00000083123,,P21953,P21953,HGNC:987 +GARD:0017266,Orphanet,268184,ORPHA:268184,3,BCKDHA,"[MSU, maple syrup urine disease]",branched chain keto acid dehydrogenase E1 subunit alpha,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301495],608348,ENSG00000248098,,P12694,P12694,HGNC:986 +GARD:0017266,Orphanet,268184,ORPHA:268184,3,DBT,"[BCKAD-E2, BCKDH-E2, BCOADC-E2, branched chain 2-oxo-acid dehydrogenase complex component E2, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial]",dihydrolipoamide branched chain transacylase E2,gene with protein product,1p21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301495],248610,ENSG00000137992,,P11182,P11182,HGNC:2698 +GARD:0017266,Orphanet,268184,ORPHA:268184,3,BCKDHB,"[2-oxoisovalerate dehydrogenase subunit beta, mitochondrial, maple syrup urine disease]",branched chain keto acid dehydrogenase E1 subunit beta,gene with protein product,6q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301495],248611,ENSG00000083123,,P21953,P21953,HGNC:987 +GARD:0017270,Orphanet,269001,ORPHA:269001,2,TSC2,"[LAM, PPP1R160, protein phosphatase 1, regulatory subunit 160, tuberin]",TSC complex subunit 2,gene with protein product,16p13.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:28215400],191092,ENSG00000103197,,P49815,P49815,HGNC:12363 +GARD:0017270,Orphanet,269001,ORPHA:269001,2,MTOR,"[FK506 binding protein 12-rapamycin associated protein 2, FKBP-rapamycin associated protein, FKBP12-rapamycin complex-associated protein 1, FLJ44809, RAFT1, RAPT1, dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1), mammalian target of rapamycin, rapamycin and FKBP12 target 1, rapamycin associated protein FRAP2, rapamycin target protein]",mechanistic target of rapamycin kinase,gene with protein product,1p36.22,Disease-causing somatic mutation(s) in,Assessed,[PMID:25799227],601231,ENSG00000198793,2109,P42345,P42345,HGNC:3942 +GARD:0017271,Orphanet,269008,ORPHA:269008,3,TSC2,"[LAM, PPP1R160, protein phosphatase 1, regulatory subunit 160, tuberin]",TSC complex subunit 2,gene with protein product,16p13.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:28215400],191092,ENSG00000103197,,P49815,P49815,HGNC:12363 +GARD:0017271,Orphanet,269008,ORPHA:269008,3,TSC1,"[KIAA0243, LAM, hamartin]",TSC complex subunit 1,gene with protein product,9q34,Disease-causing somatic mutation(s) in,Assessed,[PMID:28215400],605284,ENSG00000165699,,Q92574,Q92574,HGNC:12362 +GARD:0017271,Orphanet,269008,ORPHA:269008,3,MTOR,"[FK506 binding protein 12-rapamycin associated protein 2, FKBP-rapamycin associated protein, FKBP12-rapamycin complex-associated protein 1, FLJ44809, RAFT1, RAPT1, dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1), mammalian target of rapamycin, rapamycin and FKBP12 target 1, rapamycin associated protein FRAP2, rapamycin target protein]",mechanistic target of rapamycin kinase,gene with protein product,1p36.22,Disease-causing somatic mutation(s) in,Assessed,[PMID:25799227],601231,ENSG00000198793,2109,P42345,P42345,HGNC:3942 +GARD:0017272,Orphanet,269510,ORPHA:269510,1,CCDC88C,"[DAPLE, Dvl-associating protein with a high frequency of leucine residues, HkRP2, SCA40, spinocerebellar ataxia 40]",coiled-coil domain containing 88C,gene with protein product,14q32.11-q32.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:21031079, PMID:23042809]",611204,ENSG00000015133,,Q9P219,Q9P219,HGNC:19967 +GARD:0017273,Orphanet,275872,ORPHA:275872,7,TBK1,[NAK],TANK binding kinase 1,gene with protein product,12q14.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25803835],604834,ENSG00000183735,2237,Q9UHD2,Q9UHD2,HGNC:11584 +GARD:0017273,Orphanet,275872,ORPHA:275872,7,VCP,"[CDC48, IBMPFD, TERA, p97, transitional endoplasmic reticulum ATPase]",valosin containing protein,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21145000],601023,ENSG00000165280,,P55072,P55072,HGNC:12666 +GARD:0017273,Orphanet,275872,ORPHA:275872,7,CHCHD10,"[MIX17 homolog A, MIX17A, N27C7-4]",coiled-coil-helix-coiled-coil-helix domain containing 10,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:24934289],615903,ENSG00000250479,,Q8WYQ3,Q8WYQ3,HGNC:15559 +GARD:0017273,Orphanet,275872,ORPHA:275872,7,FUS,"[FUS1, HNRNPP2, TLS, heterogeneous nuclear ribonucleoprotein P2, hnRNP-P2, translocated in liposarcoma]",FUS RNA binding protein,gene with protein product,16p11.2,Major susceptibility factor in,Not yet assessed,[PMID:23597030],137070,ENSG00000089280,,P35637,P35637,HGNC:4010 +GARD:0017273,Orphanet,275872,ORPHA:275872,7,C9ORF72,"[DENND9, DENNL72, MGC23980]",C9orf72-SMCR8 complex subunit,gene with protein product,9p21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23597030],614260,ENSG00000147894,,Q96LT7,,HGNC:28337 +GARD:0017273,Orphanet,275872,ORPHA:275872,7,SQSTM1,"[A170, autophagy receptor p62, p60, p62, p62B]",sequestosome 1,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24042580],601530,ENSG00000161011,,Q13501,Q13501,HGNC:11280 +GARD:0017273,Orphanet,275872,ORPHA:275872,7,TARDBP,"[ALS10, TDP-43]",TAR DNA binding protein,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,,605078,ENSG00000120948,,Q13148,Q13148,HGNC:11571 +GARD:0017275,Orphanet,276152,ORPHA:276152,1,CDKN1B,"[KIP1, P27KIP1]",cyclin dependent kinase inhibitor 1B,gene with protein product,12p13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25416039],600778,ENSG00000111276,,P46527,P46527,HGNC:1785 +GARD:0017276,Orphanet,276183,ORPHA:276183,1,SCA32,,spinocerebellar ataxia 32,Disorder-associated locus,7q32-q33,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:37475 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,AK7,"[ATP-AMP transphosphorylase 7, CFAP75, FAP75, FLJ32864]",adenylate kinase 7,gene with protein product,14q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:29365104],615364,ENSG00000140057,,Q96M32,Q96M32,HGNC:20091 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,CFAP44,[FLJ11142],cilia and flagella associated protein 44,gene with protein product,3q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28552195],617559,ENSG00000206530,,Q96MT7,,HGNC:25631 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,CFAP43,"[FLJ22944, FLJ36006, bA373N18.2]",cilia and flagella associated protein 43,gene with protein product,10q25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28552195],617558,ENSG00000197748,,Q8NDM7,,HGNC:26684 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,ARMC2,"[DKFZp434P0714, bA787I22.1]",armadillo repeat containing 2,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,[PMID:30686508],618424,ENSG00000118690,,Q8NEN0,,HGNC:23045 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,CFAP65,"[DKFZp434O0527, MGC35338]",cilia and flagella associated protein 65,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:31413122],614270,ENSG00000181378,,Q6ZU64,,HGNC:25325 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,TTC29,[NYD-SP14],tetratricopeptide repeat domain 29,gene with protein product,4q31.22,Disease-causing germline mutation(s) in,Assessed,"[PMID:31735292, PMID:31735294]",618735,ENSG00000137473,,Q8NA56,,HGNC:29936 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,CFAP70,[FLJ25765],cilia and flagella associated protein 70,gene with protein product,10q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31621862],618661,ENSG00000156042,,Q5T0N1,,HGNC:30726 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,SLC26A8,,solute carrier family 26 member 8,gene with protein product,6p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:23582645],608480,ENSG00000112053,1105,Q96RN1,Q96RN1,HGNC:14468 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,DNAH1,"[DNAHC1, HDHC7, HL-11, HL11, XLHSRF-1]",dynein axonemal heavy chain 1,gene with protein product,3p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24360805],603332,ENSG00000114841,,Q9P2D7,,HGNC:2940 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,SEPTIN12,[FLJ25410],septin 12,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22275165],611562,ENSG00000140623,,Q8IYM1,Q8IYM1,HGNC:26348 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,DRC1,"[CILD21, FLJ32660, MGC16372]",dynein regulatory complex subunit 1,gene with protein product,2p23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:34169321],615288,ENSG00000157856,,Q96MC2,,HGNC:24245 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,SPEF2,"[CT122, FLJ23577, KPL2, cancer/testis antigen 122]",sperm flagellar 2,gene with protein product,5p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31151990],610172,ENSG00000152582,,Q9C093,,HGNC:26293 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,CATSPER1,[CATSPER],cation channel sperm associated 1,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19344877],606389,ENSG00000175294,388,Q8NEC5,Q8NEC5,HGNC:17116 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,CFAP69,"[FAP69, FLJ21062, flagellar protein 69 homolog (Chlamydomonas), hypothetical protein FLJ21062]",cilia and flagella associated protein 69,gene with protein product,7q21.13,Disease-causing germline mutation(s) in,Assessed,[PMID:29606301],617949,ENSG00000105792,,A5D8W1,,HGNC:26107 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,SPAG17,"[CT143, FLJ34497, PF6, RP4-776P7.2]",sperm associated antigen 17,gene with protein product,1p12,Disease-causing germline mutation(s) in,Assessed,[PMID:28548327],616554,ENSG00000155761,,Q6Q759,,HGNC:26620 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,CFAP251,"[CaM-IP4, MGC33630]",cilia and flagella associated protein 251,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:30122540],618146,ENSG00000158023,,Q8TBY9,,HGNC:28506 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,FSIP2,[FLJ34780],fibrous sheath interacting protein 2,gene with protein product,2q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30137358],615796,ENSG00000188738,,Q5CZC0,,HGNC:21675 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,TTC21A,"[IFT139A, STI2]",tetratricopeptide repeat domain 21A,gene with protein product,3p22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30929735],611430,ENSG00000168026,,Q8NDW8,Q8NDW8,HGNC:30761 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,ACTL9,,actin like 9,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:33626338],619251,ENSG00000181786,,Q8TC94,,HGNC:28494 +GARD:0017277,Orphanet,276234,ORPHA:276234,20,DNAH17,"[DNEL2, FLJ40457]",dynein axonemal heavy chain 17,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31178125],610063,ENSG00000187775,,Q9UFH2,,HGNC:2946 +GARD:0017278,Orphanet,276399,ORPHA:276399,2,KEAP1,"[INrf2, KIAA0132, KLHL19, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, kelch-like family member 19]",kelch like ECH associated protein 1,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23724128],606016,ENSG00000079999,2757,Q14145,R-HSA-976038,HGNC:23177 +GARD:0017278,Orphanet,276399,ORPHA:276399,2,DICER1,"[Dicer, HERNA, K12H4.8-LIKE, KIAA0928, dicer 1, double-stranded RNA-specific endoribonuclease]","dicer 1, ribonuclease III",gene with protein product,14q32.13,Major susceptibility factor in,Assessed,[PMID:21205968],606241,ENSG00000100697,,Q9UPY3,Q9UPY3,HGNC:17098 +GARD:0017279,Orphanet,276405,ORPHA:276405,1,BLVRA,,biliverdin reductase A,gene with protein product,7p13,Disease-causing germline mutation(s) in,Assessed,[PMID:21278388],109750,ENSG00000106605,,P53004,P53004,HGNC:1062 +GARD:0017281,Orphanet,276432,ORPHA:276432,1,NAA10,"[DXS707, TE2, arrest defective protein 1]","N-alpha-acetyltransferase 10, NatA catalytic subunit",gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:21700266],300013,ENSG00000102030,,P41227,P41227,HGNC:18704 +GARD:0017282,Orphanet,276435,ORPHA:276435,1,CHCHD10,"[MIX17 homolog A, MIX17A, N27C7-4]",coiled-coil-helix-coiled-coil-helix domain containing 10,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:25428574],615903,ENSG00000250479,,Q8WYQ3,Q8WYQ3,HGNC:15559 +GARD:0017283,Orphanet,276575,ORPHA:276575,1,ABCC8,"[ABC36, HHF1, HI, MRP8, PHHI, SUR1, TNDM2, sulfonylurea receptor (hyperinsulinemia)]",ATP binding cassette subfamily C member 8,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:11018078, PMID:25733449]",600509,ENSG00000006071,2594,Q09428,Q09428,HGNC:59 +GARD:0017284,Orphanet,276580,ORPHA:276580,1,KCNJ11,"[ATP-sensitive inward rectifier potassium channel 11, BIR, Kir6.2, beta-cell inward rectifier]",potassium inwardly rectifying channel subfamily J member 11,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18596924, PMID:25733449]",600937,ENSG00000187486,442,Q14654,Q14654,HGNC:6257 +GARD:0017285,Orphanet,276598,ORPHA:276598,1,ABCC8,"[ABC36, HHF1, HI, MRP8, PHHI, SUR1, TNDM2, sulfonylurea receptor (hyperinsulinemia)]",ATP binding cassette subfamily C member 8,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21967988],600509,ENSG00000006071,2594,Q09428,Q09428,HGNC:59 +GARD:0017286,Orphanet,276603,ORPHA:276603,1,KCNJ11,"[ATP-sensitive inward rectifier potassium channel 11, BIR, Kir6.2, beta-cell inward rectifier]",potassium inwardly rectifying channel subfamily J member 11,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21967988],600937,ENSG00000187486,442,Q14654,Q14654,HGNC:6257 +GARD:0017287,Orphanet,279943,ORPHA:279943,1,CSF3R,[GCSFR],colony stimulating factor 3 receptor,gene with protein product,1p34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19620628],138971,ENSG00000119535,1719,Q99062,Q99062,HGNC:2439 +GARD:0017288,Orphanet,280142,ORPHA:280142,1,LCK,,"LCK proto-oncogene, Src family tyrosine kinase",gene with protein product,1p35.2,Disease-causing germline mutation(s) in,Assessed,,153390,ENSG00000182866,2053,P06239,P06239,HGNC:6524 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,TDGF1,"[CR, CR-1, CRIPTO, Cripto-1]",teratocarcinoma-derived growth factor 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,,187395,ENSG00000241186,,P13385,P13385,HGNC:11701 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,PTCH1,[BCNS],patched 1,gene with protein product,9q22.32,Disease-causing germline mutation(s) in,Assessed,,601309,ENSG00000185920,,Q13635,Q13635,HGNC:9585 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,GAS1,[Growth arrest-specific gene-1],growth arrest specific 1,gene with protein product,9q21.33,Disease-causing germline mutation(s) in,Assessed,,139185,ENSG00000180447,,P54826,P54826,HGNC:4165 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,FGF8,"[AIGF, androgen-induced growth factor]",fibroblast growth factor 8,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,,600483,ENSG00000107831,,P55075,P55075,HGNC:3686 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,DLL1,,delta like canonical Notch ligand 1,gene with protein product,6q27,Disease-causing germline mutation(s) in,Assessed,,606582,ENSG00000198719,,O00548,O00548,HGNC:2908 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,SIX3,,SIX homeobox 3,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,,603714,ENSG00000138083,,O95343,O95343,HGNC:10889 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,CDON,"[CDO, CDON1, Ihog, ORCAM, cell adhesion molecule-related/down-regulated by oncogenes]","cell adhesion associated, oncogene regulated",gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,,608707,ENSG00000064309,,Q4KMG0,Q4KMG0,HGNC:17104 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,TGIF1,,TGFB induced factor homeobox 1,gene with protein product,18p11.31,Disease-causing germline mutation(s) in,Assessed,,602630,ENSG00000177426,,Q15583,Q15583,HGNC:11776 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,,600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,NODAL,,nodal growth differentiation factor,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,,601265,ENSG00000156574,,Q96S42,Q96S42,HGNC:7865 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,GLI2,"[HPE9, THP1, THP2, tax helper protein 1, tax helper protein 2, tax-responsive element-2 holding protein]",GLI family zinc finger 2,gene with protein product,2q14.2,Disease-causing germline mutation(s) in,Assessed,,165230,ENSG00000074047,,P10070,P10070,HGNC:4318 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,FOXH1,[FAST1],forkhead box H1,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,,603621,ENSG00000160973,,O75593,O75593,HGNC:3814 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,STIL,[MCPH7],STIL centriolar assembly protein,gene with protein product,1p33,Disease-causing germline mutation(s) in,Assessed,[PMID:29785796],181590,ENSG00000123473,,Q15468,Q15468,HGNC:10879 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,ZIC2,"[HPE5, Zinc finger protein of the cerebellum 2]",Zic family member 2,gene with protein product,13q32.3,Disease-causing germline mutation(s) in,Assessed,,603073,ENSG00000043355,,O95409,,HGNC:12873 +GARD:0017289,Orphanet,280195,ORPHA:280195,15,DISP1,"[DISPA, DKFZP434I0428, MGC13130, MGC16796]",dispatched RND transporter family member 1,gene with protein product,1q41,Disease-causing germline mutation(s) in,Assessed,,607502,ENSG00000154309,,Q96F81,,HGNC:19711 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,TDGF1,"[CR, CR-1, CRIPTO, Cripto-1]",teratocarcinoma-derived growth factor 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,,187395,ENSG00000241186,,P13385,P13385,HGNC:11701 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,PTCH1,[BCNS],patched 1,gene with protein product,9q22.32,Disease-causing germline mutation(s) in,Assessed,,601309,ENSG00000185920,,Q13635,Q13635,HGNC:9585 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,GAS1,[Growth arrest-specific gene-1],growth arrest specific 1,gene with protein product,9q21.33,Disease-causing germline mutation(s) in,Assessed,,139185,ENSG00000180447,,P54826,P54826,HGNC:4165 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,FGF8,"[AIGF, androgen-induced growth factor]",fibroblast growth factor 8,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,,600483,ENSG00000107831,,P55075,P55075,HGNC:3686 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,DLL1,,delta like canonical Notch ligand 1,gene with protein product,6q27,Disease-causing germline mutation(s) in,Assessed,,606582,ENSG00000198719,,O00548,O00548,HGNC:2908 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,SIX3,,SIX homeobox 3,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,,603714,ENSG00000138083,,O95343,O95343,HGNC:10889 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,CDON,"[CDO, CDON1, Ihog, ORCAM, cell adhesion molecule-related/down-regulated by oncogenes]","cell adhesion associated, oncogene regulated",gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,,608707,ENSG00000064309,,Q4KMG0,Q4KMG0,HGNC:17104 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11471164],600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,SUFU,"[PRO1280, SUFUH, SUFUXL]",SUFU negative regulator of hedgehog signaling,gene with protein product,10q24.32,Candidate gene tested in,Not yet assessed,[PMID:27363716],607035,ENSG00000107882,,Q9UMX1,Q9UMX1,HGNC:16466 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Candidate gene tested in,Not yet assessed,[PMID:27363716],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,TGIF1,,TGFB induced factor homeobox 1,gene with protein product,18p11.31,Disease-causing germline mutation(s) in,Assessed,,602630,ENSG00000177426,,Q15583,Q15583,HGNC:11776 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,NODAL,,nodal growth differentiation factor,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,,601265,ENSG00000156574,,Q96S42,Q96S42,HGNC:7865 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,GLI2,"[HPE9, THP1, THP2, tax helper protein 1, tax helper protein 2, tax-responsive element-2 holding protein]",GLI family zinc finger 2,gene with protein product,2q14.2,Disease-causing germline mutation(s) in,Assessed,,165230,ENSG00000074047,,P10070,P10070,HGNC:4318 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,FOXH1,[FAST1],forkhead box H1,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,,603621,ENSG00000160973,,O75593,O75593,HGNC:3814 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,ZIC2,"[HPE5, Zinc finger protein of the cerebellum 2]",Zic family member 2,gene with protein product,13q32.3,Disease-causing germline mutation(s) in,Assessed,,603073,ENSG00000043355,,O95409,,HGNC:12873 +GARD:0017290,Orphanet,280200,ORPHA:280200,16,DISP1,"[DISPA, DKFZP434I0428, MGC13130, MGC16796]",dispatched RND transporter family member 1,gene with protein product,1q41,Disease-causing germline mutation(s) in,Assessed,,607502,ENSG00000154309,,Q96F81,,HGNC:19711 +GARD:0017291,Orphanet,280210,ORPHA:280210,1,PLP1,"[GPM6C, Pelizaeus-Merzbacher disease]",proteolipid protein 1,gene with protein product,Xq22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301361],300401,ENSG00000123560,,P60201,,HGNC:9086 +GARD:0017292,Orphanet,280234,ORPHA:280234,1,PLP1,"[GPM6C, Pelizaeus-Merzbacher disease]",proteolipid protein 1,gene with protein product,Xq22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301361],300401,ENSG00000123560,,P60201,,HGNC:9086 +GARD:0017293,Orphanet,280282,ORPHA:280282,1,GJC2,"[CX46.6, CX47, SPG44, connexin 47]",gap junction protein gamma 2,gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:22669416, PMID:24374284]",608803,ENSG00000198835,731,Q5T442,Q5T442,HGNC:17494 +GARD:0017294,Orphanet,280288,ORPHA:280288,1,HSPD1,"[GROEL, GroEL, HSP60]",heat shock protein family D (Hsp60) member 1,gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18571143],118190,ENSG00000144381,,P10809,P10809,HGNC:5261 +GARD:0017295,Orphanet,280406,ORPHA:280406,1,COQ6,[CGI-10],"coenzyme Q6, monooxygenase",gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21540551],614647,ENSG00000119723,,Q9Y2Z9,Q9Y2Z9,HGNC:20233 +GARD:0017296,Orphanet,280553,ORPHA:280553,1,CRYAB,[HSPB5],crystallin alpha B,gene with protein product,11q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21337604],123590,ENSG00000109846,,P02511,P02511,HGNC:2389 +GARD:0017297,Orphanet,280615,ORPHA:280615,1,HBG2,[HBG-T1],hemoglobin subunit gamma 2,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:21561349],142250,ENSG00000196565,,P69892,P69892,HGNC:4832 +GARD:0017298,Orphanet,280628,ORPHA:280628,1,KITLG,"[DFNA69, FPH2, KL-1, Kitl, SCF, SF, SLF, familial progressive hyperpigmentation 2, mast cell growth factor, steel factor, stem cell factor]",KIT ligand,gene with protein product,12q21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:21368769],184745,ENSG00000049130,,P21583,P21583,HGNC:6343 +GARD:0017299,Orphanet,280640,ORPHA:280640,1,LAMC3,[DKFZp434E202],laminin subunit gamma 3,gene with protein product,9q34.12,Disease-causing germline mutation(s) in,Assessed,[PMID:21572413],604349,ENSG00000050555,,Q9Y6N6,Q9Y6N6,HGNC:6494 +GARD:0017300,Orphanet,280651,ORPHA:280651,2,PRKAR1A,"[CNC1, Carney complex type 1]",protein kinase cAMP-dependent type I regulatory subunit alpha,gene with protein product,17q24.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:21651393],188830,ENSG00000108946,1472,P10644,P10644,HGNC:9388 +GARD:0017300,Orphanet,280651,ORPHA:280651,2,PDE4D,"[Phosphodiesterase E3 dunce homolog (Drosophila), cAMP-specific 3',5'-cyclic phosphodiesterase 4D, phosphodiesterase E3 dunce homolog (Drosophila)]",phosphodiesterase 4D,gene with protein product,5q11.2-q12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:22464250, PMID:22464252]",600129,ENSG00000113448,1303,Q08499,Q08499,HGNC:8783 +GARD:0017301,Orphanet,280679,ORPHA:280679,1,BRCC3,"[BRCC36, C6.1A, Lys-63-specific deubiquitinase]",BRCA1/BRCA2-containing complex subunit 3,gene with protein product,Xq28,Role in the phenotype of,Assessed,[PMID:21596366],300617,ENSG00000185515,,P46736,P46736,HGNC:24185 +GARD:0017302,Orphanet,281090,ORPHA:281090,1,STS,"[ARSC, arylsulfatase C, steryl-sulfatase]",steroid sulfatase,gene with protein product,Xp22.31,Role in the phenotype of,Assessed,"[PMID:10692123, PMID:15888481, PMID:18076704, PMID:3165728]",300747,ENSG00000101846,,P08842,P08842,HGNC:11425 +GARD:0017303,Orphanet,281122,ORPHA:281122,3,ALOXE3,"[E-LOX, Epidermal lipoxygenase-3, eLOX3, hydroperoxide isomerase]",arachidonate lipoxygenase 3,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19890349],607206,ENSG00000179148,1390,Q9BYJ1,Q9BYJ1,HGNC:13743 +GARD:0017303,Orphanet,281122,ORPHA:281122,3,TGM1,"[K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase, LI, LI1, TGASE, TGK]",transglutaminase 1,gene with protein product,14q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:12542526, PMID:19890349]",190195,ENSG00000092295,,P22735,P22735,HGNC:11777 +GARD:0017303,Orphanet,281122,ORPHA:281122,3,ALOX12B,"[12R-LOX, 12R-lipoxygenase]","arachidonate 12-lipoxygenase, 12R type",gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19890349],603741,ENSG00000179477,1386,O75342,O75342,HGNC:430 +GARD:0017304,Orphanet,281139,ORPHA:281139,2,KRT1,[KRT1A],keratin 1,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:10053007],139350,ENSG00000167768,,P04264,P04264,HGNC:6412 +GARD:0017304,Orphanet,281139,ORPHA:281139,2,KRT10,"[CK10, K10, cytokeratin 10, epidermolytic hyperkeratosis]",keratin 10,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:9036939, PMID:9856845]",148080,ENSG00000186395,,P13645,P13645,HGNC:6413 +GARD:0017305,Orphanet,281190,ORPHA:281190,2,KRT1,[KRT1A],keratin 1,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:25774499],139350,ENSG00000167768,,P04264,P04264,HGNC:6412 +GARD:0017305,Orphanet,281190,ORPHA:281190,2,KRT10,"[CK10, K10, cytokeratin 10, epidermolytic hyperkeratosis]",keratin 10,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20798280],148080,ENSG00000186395,,P13645,P13645,HGNC:6413 +GARD:0017306,Orphanet,281201,ORPHA:281201,1,POMP,"[HSPC014, UMP1, proteassemblin]",proteasome maturation protein,gene with protein product,13q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20226437],613386,ENSG00000132963,,Q9Y244,,HGNC:20330 +GARD:0017307,Orphanet,282166,ORPHA:282166,1,PRNP,"[AltPrP, CD230, Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, PRP, fatal familial insomnia, p27-30]",prion protein,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:10790216, PMID:20301407]",176640,ENSG00000171867,,P04156,P04156,HGNC:9449 +GARD:0017308,Orphanet,284139,ORPHA:284139,1,B3GAT3,"[GlcAT-I, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3, glucuronosyltransferase I]","beta-1,3-glucuronyltransferase 3",gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21763480],606374,ENSG00000149541,,O94766,O94766,HGNC:923 +GARD:0017309,Orphanet,284149,ORPHA:284149,1,IL11RA,,interleukin 11 receptor subunit alpha,gene with protein product,9p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21741611],600939,ENSG00000137070,1709,Q14626,Q14626,HGNC:5967 +GARD:0017311,Orphanet,284169,ORPHA:284169,1,WAC,"[BM-016, FLJ31290, MGC10753, PRO1741, Wwp4]",WW domain containing adaptor with coiled-coil,gene with protein product,10p12.1,Role in the phenotype of,Assessed,"[PMID:21522184, PMID:26264232]",615049,ENSG00000095787,,Q9BTA9,Q9BTA9,HGNC:17327 +GARD:0017312,Orphanet,284271,ORPHA:284271,1,SYT14,"[FLJ34198, sytXIV]",synaptotagmin 14,gene with protein product,1q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21835308],610949,ENSG00000143469,,Q8NB59,,HGNC:23143 +GARD:0017313,Orphanet,284282,ORPHA:284282,1,WWOX,"[FOR, SDR41C1, WOX1, short chain dehydrogenase/reductase family 41C, member 1]",WW domain containing oxidoreductase,gene with protein product,16q23.1-q23.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24369382],605131,ENSG00000186153,,Q9NZC7,Q9NZC7,HGNC:12799 +GARD:0017314,Orphanet,284289,ORPHA:284289,1,ANO10,"[FLJ10375, MGC47890, SCAR10]",anoctamin 10,gene with protein product,3p22.1-p21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21092923],613726,ENSG00000160746,,Q9NW15,Q9NW15,HGNC:25519 +GARD:0017315,Orphanet,284339,ORPHA:284339,2,MINPP1,[MIPP],multiple inositol-polyphosphate phosphatase 1,gene with protein product,10q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:33168985],605391,ENSG00000107789,,Q9UNW1,Q9UNW1,HGNC:7102 +GARD:0017315,Orphanet,284339,ORPHA:284339,2,TOE1,"[TOE-1, hCaf1z]","target of EGR1, exonuclease",gene with protein product,1p34.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28092684],613931,ENSG00000132773,,Q96GM8,Q96GM8,HGNC:15954 +GARD:0017316,Orphanet,284411,ORPHA:284411,1,GK,"[GK1, GKD]",glycerol kinase,gene with protein product,Xp21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:8651297],300474,ENSG00000198814,,P32189,P32189,HGNC:4289 +GARD:0017317,Orphanet,284414,ORPHA:284414,1,GK,"[GK1, GKD]",glycerol kinase,gene with protein product,Xp21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:8651297],300474,ENSG00000198814,,P32189,P32189,HGNC:4289 +GARD:0017318,Orphanet,284973,ORPHA:284973,1,TGFBR2,"[TBR-ii, TBRII]",transforming growth factor beta receptor 2,gene with protein product,3p24.1,Disease-causing germline mutation(s) in,Assessed,,190182,ENSG00000163513,1795,P37173,P37173,HGNC:11773 +GARD:0017319,Orphanet,289157,ORPHA:289157,2,CYP27B1,"[1alpha(OH)ase, 25-Hydroxyvitamin D3 1alpha-hydroxylase, CYP1, Calcidiol 1-monooxygenase, P450c1, VDDR I]",cytochrome P450 family 27 subfamily B member 1,gene with protein product,12q14.1,Disease-causing germline mutation(s) in,Assessed,,609506,ENSG00000111012,1370,O15528,O15528,HGNC:2606 +GARD:0017319,Orphanet,289157,ORPHA:289157,2,CYP2R1,[Vitamin D 25-hydroxylase],cytochrome P450 family 2 subfamily R member 1,gene with protein product,11p15.2,Disease-causing germline mutation(s) in,Assessed,,608713,ENSG00000186104,1333,Q6VVX0,Q6VVX0,HGNC:20580 +GARD:0017320,Orphanet,289176,ORPHA:289176,2,DMP1,,dentin matrix acidic phosphoprotein 1,gene with protein product,4q22.1,Disease-causing germline mutation(s) in,Assessed,,600980,ENSG00000152592,,Q13316,Q13316,HGNC:2932 +GARD:0017320,Orphanet,289176,ORPHA:289176,2,ENPP1,"[PC-1, PCA1]",ectonucleotide pyrophosphatase/phosphodiesterase 1,gene with protein product,6q23.2,Disease-causing germline mutation(s) in,Assessed,,173335,ENSG00000197594,,P22413,P22413,HGNC:3356 +GARD:0017321,Orphanet,289290,ORPHA:289290,1,ADK,"[AK, Adenosine 5'-phosphotransferase, adenosine 5'-phosphotransferase]",adenosine kinase,gene with protein product,10q22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21963049],102750,ENSG00000156110,1231,P55263,P55263,HGNC:257 +GARD:0017322,Orphanet,289307,ORPHA:289307,1,ALDH6A1,[malonate-semialdehyde dehydrogenase (acetylating)],aldehyde dehydrogenase 6 family member A1,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:10971205, PMID:21863277]",603178,ENSG00000119711,,Q02252,Q02252,HGNC:7179 +GARD:0017323,Orphanet,289365,ORPHA:289365,3,ROBO2,[KIAA1568],roundabout guidance receptor 2,gene with protein product,3p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17357069],602431,ENSG00000185008,,Q9HCK4,Q9HCK4,HGNC:10250 +GARD:0017323,Orphanet,289365,ORPHA:289365,3,TNXB,"[TNXBS, XB, XBS]",tenascin XB,gene with protein product,6p21.33-p21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:23620400],600985,ENSG00000168477,,P22105,P22105,HGNC:11976 +GARD:0017323,Orphanet,289365,ORPHA:289365,3,SOX17,,SRY-box transcription factor 17,gene with protein product,8q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:20960469],610928,ENSG00000164736,,Q9H6I2,Q9H6I2,HGNC:18122 +GARD:0017324,Orphanet,289377,ORPHA:289377,1,TTN,"[CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD]",titin,gene with protein product,2q31.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:17444505, PMID:22238790]",188840,ENSG00000155657,2265,Q8WZ42,Q8WZ42,HGNC:12403 +GARD:0017325,Orphanet,289380,ORPHA:289380,1,COL6A2,,collagen type VI alpha 2 chain,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18852439],120240,ENSG00000142173,,P12110,P12110,HGNC:2212 +GARD:0017327,Orphanet,289499,ORPHA:289499,2,ATOH7,"[Math5, bHLHa13]",atonal bHLH transcription factor 7,gene with protein product,10q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22068589],609875,ENSG00000179774,,Q8N100,,HGNC:13907 +GARD:0017327,Orphanet,289499,ORPHA:289499,2,PXDN,"[D2S448, D2S448E, KIAA0230, MG50, PRG2, PXN]",peroxidasin,gene with protein product,2p25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21907015, PMID:24939590]",605158,ENSG00000130508,,Q92626,Q92626,HGNC:14966 +GARD:0017329,Orphanet,289586,ORPHA:289586,2,SERPINB8,"[CAP2, cytoplasmic antiproteinase 2]",serpin family B member 8,gene with protein product,18q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27476651],601697,ENSG00000166401,,P50452,P50452,HGNC:8952 +GARD:0017329,Orphanet,289586,ORPHA:289586,2,CSTA,[stefin A],cystatin A,gene with protein product,3q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21944047],184600,ENSG00000121552,,P01040,P01040,HGNC:2481 +GARD:0017330,Orphanet,289846,ORPHA:289846,1,GSS,,glutathione synthetase,gene with protein product,20q11.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,,601002,ENSG00000100983,,P48637,P48637,HGNC:4624 +GARD:0017331,Orphanet,289849,ORPHA:289849,1,GSS,,glutathione synthetase,gene with protein product,20q11.22,Disease-causing germline mutation(s) in,Assessed,,601002,ENSG00000100983,,P48637,P48637,HGNC:4624 +GARD:0017332,Orphanet,289857,ORPHA:289857,3,GLDC,"[GCSP, NKH, glycine cleavage system protein P, glycine dehydrogenase, nonketotic hyperglycinemia]",glycine decarboxylase,gene with protein product,9p24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301531],238300,ENSG00000178445,,P23378,P23378,HGNC:4313 +GARD:0017332,Orphanet,289857,ORPHA:289857,3,GCSH,[lipoic acid-containing protein],glycine cleavage system protein H,gene with protein product,16q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301531],238330,ENSG00000140905,3098,P23434,P23434,HGNC:4208 +GARD:0017332,Orphanet,289857,ORPHA:289857,3,AMT,"[GCST, NKH, glycine cleavage system protein T, nonketotic hyperglycinemia]",aminomethyltransferase,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301531],238310,ENSG00000145020,,P48728,P48728,HGNC:473 +GARD:0017333,Orphanet,289860,ORPHA:289860,4,GLDC,"[GCSP, NKH, glycine cleavage system protein P, glycine dehydrogenase, nonketotic hyperglycinemia]",glycine decarboxylase,gene with protein product,9p24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301531],238300,ENSG00000178445,,P23378,P23378,HGNC:4313 +GARD:0017333,Orphanet,289860,ORPHA:289860,4,SLC6A9,[GLYT1],solute carrier family 6 member 9,gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27481395],601019,ENSG00000196517,935,P48067,P48067,HGNC:11056 +GARD:0017333,Orphanet,289860,ORPHA:289860,4,GCSH,[lipoic acid-containing protein],glycine cleavage system protein H,gene with protein product,16q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301531],238330,ENSG00000140905,3098,P23434,P23434,HGNC:4208 +GARD:0017333,Orphanet,289860,ORPHA:289860,4,AMT,"[GCST, NKH, glycine cleavage system protein T, nonketotic hyperglycinemia]",aminomethyltransferase,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301531],238310,ENSG00000145020,,P48728,P48728,HGNC:473 +GARD:0017334,Orphanet,289863,ORPHA:289863,4,GLDC,"[GCSP, NKH, glycine cleavage system protein P, glycine dehydrogenase, nonketotic hyperglycinemia]",glycine decarboxylase,gene with protein product,9p24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301531],238300,ENSG00000178445,,P23378,P23378,HGNC:4313 +GARD:0017334,Orphanet,289863,ORPHA:289863,4,SLC6A9,[GLYT1],solute carrier family 6 member 9,gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27773429],601019,ENSG00000196517,935,P48067,P48067,HGNC:11056 +GARD:0017334,Orphanet,289863,ORPHA:289863,4,GCSH,[lipoic acid-containing protein],glycine cleavage system protein H,gene with protein product,16q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301531],238330,ENSG00000140905,3098,P23434,P23434,HGNC:4208 +GARD:0017334,Orphanet,289863,ORPHA:289863,4,AMT,"[GCST, NKH, glycine cleavage system protein T, nonketotic hyperglycinemia]",aminomethyltransferase,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301531],238310,ENSG00000145020,,P48728,P48728,HGNC:473 +GARD:0017335,Orphanet,289916,ORPHA:289916,1,MMUT,[MCM],methylmalonyl-CoA mutase,gene with protein product,6p12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301409],609058,ENSG00000146085,,P22033,P22033,HGNC:7526 +GARD:0017336,Orphanet,293144,ORPHA:293144,1,PITX1,"[POTX, PTX1]",paired like homeodomain 1,gene with protein product,5q31.1,Role in the phenotype of,Assessed,[PMID:21775501],602149,ENSG00000069011,,P78337,P78337,HGNC:9004 +GARD:0017337,Orphanet,293150,ORPHA:293150,1,PITX1,"[POTX, PTX1]",paired like homeodomain 1,gene with protein product,5q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18950742],602149,ENSG00000069011,,P78337,P78337,HGNC:9004 +GARD:0017338,Orphanet,293381,ORPHA:293381,1,COL17A1,[BP180],collagen type XVII alpha 1 chain,gene with protein product,10q25.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25676728],113811,ENSG00000065618,,Q9UMD9,Q9UMD9,HGNC:2194 +GARD:0017340,Orphanet,293633,ORPHA:293633,1,PYCR1,[P5C],pyrroline-5-carboxylate reductase 1,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22052856],179035,ENSG00000183010,,P32322,P32322,HGNC:9721 +GARD:0017341,Orphanet,293707,ORPHA:293707,1,MED12,"[ARC240, CAGH45, HOPA, KIAA0192, Kohtalo homolog, Kto, OKS, OPA1, TRAP230]",mediator complex subunit 12,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23395478],300188,ENSG00000184634,,Q93074,Q93074,HGNC:11957 +GARD:0017343,Orphanet,293822,ORPHA:293822,1,MITF,"[MI, bHLHe32, homolog of mouse microphthalmia]",melanocyte inducing transcription factor,gene with protein product,3p13,Major susceptibility factor in,Assessed,"[PMID:22012259, PMID:22480646]",156845,ENSG00000187098,,O75030,O75030,HGNC:7105 +GARD:0017344,Orphanet,293825,ORPHA:293825,1,KLF1,"[EKLF, erythroid Kruppel-like factor]",Kruppel like factor 1,gene with protein product,19p13.13,Disease-causing germline mutation(s) in,Assessed,,600599,ENSG00000105610,,Q13351,,HGNC:6345 +GARD:0017345,Orphanet,293888,ORPHA:293888,12,PKP2,,plakophilin 2,gene with protein product,12p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],602861,ENSG00000057294,,Q99959,Q99959,HGNC:9024 +GARD:0017345,Orphanet,293888,ORPHA:293888,12,DSP,"[DPI, DPII, KPPS2, PPKS2]",desmoplakin,gene with protein product,6p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],125647,ENSG00000096696,,P15924,P15924,HGNC:3052 +GARD:0017345,Orphanet,293888,ORPHA:293888,12,DSG2,[CDHF5],desmoglein 2,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],125671,ENSG00000046604,,Q14126,Q14126,HGNC:3049 +GARD:0017345,Orphanet,293888,ORPHA:293888,12,LDB3,"[KIAA0613, PDLIM6, Z-band alternatively spliced PDZ motif protein, ZASP, cypher, oracle]",LIM domain binding 3,gene with protein product,10q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25041374],605906,ENSG00000122367,,O75112,,HGNC:15710 +GARD:0017345,Orphanet,293888,ORPHA:293888,12,TGFB3,[prepro-transforming growth factor beta-3],transforming growth factor beta 3,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],190230,ENSG00000119699,,P10600,P10600,HGNC:11769 +GARD:0017345,Orphanet,293888,ORPHA:293888,12,TTN,"[CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD]",titin,gene with protein product,2q31.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21810661],188840,ENSG00000155657,2265,Q8WZ42,Q8WZ42,HGNC:12403 +GARD:0017345,Orphanet,293888,ORPHA:293888,12,CTNNA3,"[MGC26194, VR22, alpha-T-catenin]",catenin alpha 3,gene with protein product,10q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23136403],607667,ENSG00000183230,,Q9UI47,,HGNC:2511 +GARD:0017345,Orphanet,293888,ORPHA:293888,12,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Not yet assessed,"[PMID:22199124, PMID:23736219]",150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0017345,Orphanet,293888,ORPHA:293888,12,TMEM43,"[DKFZp586G1919, LUMA, MGC3222]",transmembrane protein 43,gene with protein product,3p25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301310],612048,ENSG00000170876,,Q9BTV4,Q9BTV4,HGNC:28472 +GARD:0017345,Orphanet,293888,ORPHA:293888,12,RYR2,"[ARVC2, VTSIP]",ryanodine receptor 2,gene with protein product,1q43,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],180902,ENSG00000198626,748,Q92736,Q92736,HGNC:10484 +GARD:0017345,Orphanet,293888,ORPHA:293888,12,JUP,"[DP3, DPIII, PDGB, PG, PKGB, desmosomal protein 3]",junction plakoglobin,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],173325,ENSG00000173801,,P14923,P14923,HGNC:6207 +GARD:0017345,Orphanet,293888,ORPHA:293888,12,DSC2,[CDHF2],desmocollin 2,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],125645,ENSG00000134755,,Q02487,Q02487,HGNC:3036 +GARD:0017346,Orphanet,293899,ORPHA:293899,12,PKP2,,plakophilin 2,gene with protein product,12p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],602861,ENSG00000057294,,Q99959,Q99959,HGNC:9024 +GARD:0017346,Orphanet,293899,ORPHA:293899,12,DSP,"[DPI, DPII, KPPS2, PPKS2]",desmoplakin,gene with protein product,6p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],125647,ENSG00000096696,,P15924,P15924,HGNC:3052 +GARD:0017346,Orphanet,293899,ORPHA:293899,12,DSG2,[CDHF5],desmoglein 2,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],125671,ENSG00000046604,,Q14126,Q14126,HGNC:3049 +GARD:0017346,Orphanet,293899,ORPHA:293899,12,LDB3,"[KIAA0613, PDLIM6, Z-band alternatively spliced PDZ motif protein, ZASP, cypher, oracle]",LIM domain binding 3,gene with protein product,10q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25041374],605906,ENSG00000122367,,O75112,,HGNC:15710 +GARD:0017346,Orphanet,293899,ORPHA:293899,12,TGFB3,[prepro-transforming growth factor beta-3],transforming growth factor beta 3,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],190230,ENSG00000119699,,P10600,P10600,HGNC:11769 +GARD:0017346,Orphanet,293899,ORPHA:293899,12,TTN,"[CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD]",titin,gene with protein product,2q31.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21810661],188840,ENSG00000155657,2265,Q8WZ42,Q8WZ42,HGNC:12403 +GARD:0017346,Orphanet,293899,ORPHA:293899,12,CTNNA3,"[MGC26194, VR22, alpha-T-catenin]",catenin alpha 3,gene with protein product,10q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23136403],607667,ENSG00000183230,,Q9UI47,,HGNC:2511 +GARD:0017346,Orphanet,293899,ORPHA:293899,12,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Not yet assessed,"[PMID:22199124, PMID:23736219]",150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0017346,Orphanet,293899,ORPHA:293899,12,TMEM43,"[DKFZp586G1919, LUMA, MGC3222]",transmembrane protein 43,gene with protein product,3p25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301310],612048,ENSG00000170876,,Q9BTV4,Q9BTV4,HGNC:28472 +GARD:0017346,Orphanet,293899,ORPHA:293899,12,RYR2,"[ARVC2, VTSIP]",ryanodine receptor 2,gene with protein product,1q43,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],180902,ENSG00000198626,748,Q92736,Q92736,HGNC:10484 +GARD:0017346,Orphanet,293899,ORPHA:293899,12,JUP,"[DP3, DPIII, PDGB, PG, PKGB, desmosomal protein 3]",junction plakoglobin,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],173325,ENSG00000173801,,P14923,P14923,HGNC:6207 +GARD:0017346,Orphanet,293899,ORPHA:293899,12,DSC2,[CDHF2],desmocollin 2,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],125645,ENSG00000134755,,Q02487,Q02487,HGNC:3036 +GARD:0017347,Orphanet,293910,ORPHA:293910,13,PKP2,,plakophilin 2,gene with protein product,12p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],602861,ENSG00000057294,,Q99959,Q99959,HGNC:9024 +GARD:0017347,Orphanet,293910,ORPHA:293910,13,DSP,"[DPI, DPII, KPPS2, PPKS2]",desmoplakin,gene with protein product,6p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],125647,ENSG00000096696,,P15924,P15924,HGNC:3052 +GARD:0017347,Orphanet,293910,ORPHA:293910,13,DSG2,[CDHF5],desmoglein 2,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],125671,ENSG00000046604,,Q14126,Q14126,HGNC:3049 +GARD:0017347,Orphanet,293910,ORPHA:293910,13,LDB3,"[KIAA0613, PDLIM6, Z-band alternatively spliced PDZ motif protein, ZASP, cypher, oracle]",LIM domain binding 3,gene with protein product,10q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25041374],605906,ENSG00000122367,,O75112,,HGNC:15710 +GARD:0017347,Orphanet,293910,ORPHA:293910,13,CDH2,"[CD325, CDHN, N-cadherin]",cadherin 2,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28280076],114020,ENSG00000170558,,P19022,,HGNC:1759 +GARD:0017347,Orphanet,293910,ORPHA:293910,13,TGFB3,[prepro-transforming growth factor beta-3],transforming growth factor beta 3,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],190230,ENSG00000119699,,P10600,P10600,HGNC:11769 +GARD:0017347,Orphanet,293910,ORPHA:293910,13,TTN,"[CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD]",titin,gene with protein product,2q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21810661],188840,ENSG00000155657,2265,Q8WZ42,Q8WZ42,HGNC:12403 +GARD:0017347,Orphanet,293910,ORPHA:293910,13,CTNNA3,"[MGC26194, VR22, alpha-T-catenin]",catenin alpha 3,gene with protein product,10q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23136403],607667,ENSG00000183230,,Q9UI47,,HGNC:2511 +GARD:0017347,Orphanet,293910,ORPHA:293910,13,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Not yet assessed,"[PMID:22199124, PMID:23736219]",150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0017347,Orphanet,293910,ORPHA:293910,13,TMEM43,"[DKFZp586G1919, LUMA, MGC3222]",transmembrane protein 43,gene with protein product,3p25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301310],612048,ENSG00000170876,,Q9BTV4,Q9BTV4,HGNC:28472 +GARD:0017347,Orphanet,293910,ORPHA:293910,13,RYR2,"[ARVC2, VTSIP]",ryanodine receptor 2,gene with protein product,1q43,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],180902,ENSG00000198626,748,Q92736,Q92736,HGNC:10484 +GARD:0017347,Orphanet,293910,ORPHA:293910,13,JUP,"[DP3, DPIII, PDGB, PG, PKGB, desmosomal protein 3]",junction plakoglobin,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],173325,ENSG00000173801,,P14923,P14923,HGNC:6207 +GARD:0017347,Orphanet,293910,ORPHA:293910,13,DSC2,[CDHF2],desmocollin 2,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],125645,ENSG00000134755,,Q02487,Q02487,HGNC:3036 +GARD:0017348,Orphanet,293925,ORPHA:293925,1,CYP26B1,[P450RAI-2],cytochrome P450 family 26 subfamily B member 1,gene with protein product,2p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22019272],605207,ENSG00000003137,1367,Q9NR63,Q9NR63,HGNC:20581 +GARD:0017349,Orphanet,293936,ORPHA:293936,1,MIR184,[hsa-mir-184],microRNA 184,Non-coding RNA,15q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21996275],613146,ENSG00000207695,,,,HGNC:31555 +GARD:0017352,Orphanet,293964,ORPHA:293964,1,AKT2,[PKBß],AKT serine/threonine kinase 2,gene with protein product,19q13.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:21979934, PMID:24285683]",164731,ENSG00000105221,1480,P31751,P31751,HGNC:392 +GARD:0017353,Orphanet,293978,ORPHA:293978,1,NFKB2,"[LYT-10, NF-kB2, p105, p49/p100, p52]",nuclear factor kappa B subunit 2,gene with protein product,10q24.32,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:24140114, PMID:25524009]",164012,ENSG00000077150,,Q00653,Q00653,HGNC:7795 +GARD:0017354,Orphanet,294016,ORPHA:294016,1,STAMBP,[AMSH],STAM binding protein,gene with protein product,2p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23542699],606247,ENSG00000124356,,O95630,O95630,HGNC:16950 +GARD:0017355,Orphanet,294023,ORPHA:294023,2,EGFR,"[ERBB1, ERRP, erb-b2 receptor tyrosine kinase 1, erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)]",epidermal growth factor receptor,gene with protein product,7p11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24691054],131550,ENSG00000146648,1797,P00533,P00533,HGNC:3236 +GARD:0017355,Orphanet,294023,ORPHA:294023,2,ADAM17,"[CD156B, TNF-alpha convertase enzyme, a disintegrin and metalloproteinase 17, cSVP, cartilage snake venom-like protease]",ADAM metallopeptidase domain 17,gene with protein product,2p25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22010916],603639,ENSG00000151694,1662,P78536,P78536,HGNC:195 +GARD:0017356,Orphanet,294415,ORPHA:294415,2,NEK8,[NPHP9],NIMA related kinase 8,gene with protein product,17q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23418306],609799,ENSG00000160602,2123,Q86SG6,Q86SG6,HGNC:13387 +GARD:0017356,Orphanet,294415,ORPHA:294415,2,NPHP3,"[CFAP31, FLJ30691, FLJ36696, KIAA2000, MKS7, Meckel syndrome, type 7, NPH3, SLSN3, cilia and flagella associated protein 31]",nephrocystin 3,gene with protein product,3q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:18371931, PMID:20007846]",608002,ENSG00000113971,,Q7Z494,Q7Z494,HGNC:7907 +GARD:0017358,Orphanet,295195,ORPHA:295195,1,HOXD13,[synpolydactyly],homeobox D13,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22448207],142989,ENSG00000128714,,P35453,P35453,HGNC:5136 +GARD:0017359,Orphanet,295197,ORPHA:295197,1,FBLN1,[FBLN],fibulin 1,gene with protein product,22q13.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:11836357, PMID:22448207]",135820,ENSG00000077942,,P23142,P23142,HGNC:3600 +GARD:0017361,Orphanet,300179,ORPHA:300179,1,FKBP14,"[FKBP22, FLJ20731]",FKBP prolyl isomerase 14,gene with protein product,7p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22265013],614505,ENSG00000106080,,Q9NWM8,Q9NWM8,HGNC:18625 +GARD:0017362,Orphanet,300284,ORPHA:300284,1,PLOD3,"[LH3, Lysyl hydroxlase 3, lysyl hydroxlase 3]","procollagen-lysine,2-oxoglutarate 5-dioxygenase 3",gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18834968],603066,ENSG00000106397,,O60568,O60568,HGNC:9083 +GARD:0017363,Orphanet,300293,ORPHA:300293,1,GPD1,,glycerol-3-phosphate dehydrogenase 1,gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:22226083],138420,ENSG00000167588,,P21695,P21695,HGNC:4455 +GARD:0017364,Orphanet,300298,ORPHA:300298,1,STEAP3,"[STMP3, TSAP6, dudlin-2]",STEAP3 metalloreductase,gene with protein product,2q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22031863],609671,ENSG00000115107,,Q658P3,Q658P3,HGNC:24592 +GARD:0017365,Orphanet,300313,ORPHA:300313,1,SLC33A1,"[AT-1, AT1]",solute carrier family 33 member 1,gene with protein product,3q25.31,Disease-causing germline mutation(s) in,Assessed,[PMID:22243965],603690,ENSG00000169359,1134,O00400,O00400,HGNC:95 +GARD:0017366,Orphanet,300324,ORPHA:300324,1,CARD11,"[BIMP3, CARMA1, bcl10-interacting maguk protein 3, card-maguk protein 1]",caspase recruitment domain family member 11,gene with protein product,7p22.2,Major susceptibility factor in,Assessed,,607210,ENSG00000198286,,Q9BXL7,Q9BXL7,HGNC:16393 +GARD:0017367,Orphanet,300333,ORPHA:300333,1,CD151,"[PETA-3, RAPH, SFA-1, TSPAN24]",CD151 molecule (Raph blood group),gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:15265795],602243,ENSG00000177697,,P48509,P48509,HGNC:1630 +GARD:0017368,Orphanet,300345,ORPHA:300345,6,DNASE1L3,"[DNAS1L3, DNase gamma, LSD]",deoxyribonuclease 1 like 3,gene with protein product,3p14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22019780],602244,ENSG00000163687,,Q13609,,HGNC:2959 +GARD:0017368,Orphanet,300345,ORPHA:300345,6,DNASE1,,deoxyribonuclease 1,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11479590],125505,ENSG00000213918,,P24855,,HGNC:2956 +GARD:0017368,Orphanet,300345,ORPHA:300345,6,C1R,,complement C1r,gene with protein product,12p13.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28544690],613785,ENSG00000159403,2334,P00736,P00736,HGNC:1246 +GARD:0017368,Orphanet,300345,ORPHA:300345,6,C4A,"[C4, C4A2, C4A3, C4A4, C4A6, C4B, C4S, CO4, CPAMD2, RG]",complement C4A (Rodgers blood group),gene with protein product,6p21.33,Major susceptibility factor in,Assessed,[PMID:15032584],120810,ENSG00000244731,,P0C0L4,P0C0L4,HGNC:1323 +GARD:0017368,Orphanet,300345,ORPHA:300345,6,PRKCD,,protein kinase C delta,gene with protein product,3p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23712425],176977,ENSG00000163932,1485,Q05655,Q05655,HGNC:9399 +GARD:0017368,Orphanet,300345,ORPHA:300345,6,C1QA,,complement C1q A chain,gene with protein product,1p36.12,Major susceptibility factor in,Assessed,[PMID:15032584],120550,ENSG00000173372,,P02745,P02745,HGNC:1241 +GARD:0017369,Orphanet,300359,ORPHA:300359,1,PLCG2,,phospholipase C gamma 2,gene with protein product,16q24.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:22236196, PMID:23000145]",600220,ENSG00000197943,1408,P16885,P16885,HGNC:9066 +GARD:0017371,Orphanet,300382,ORPHA:300382,1,FBN1,"[MASS, Marfan syndrome, OCTD, SGS, asprosin]",fibrillin 1,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:21594992, PMID:21594993]",134797,ENSG00000166147,,P35555,P35555,HGNC:3603 +GARD:0017372,Orphanet,300525,ORPHA:300525,1,KLHL3,[KIAA1129],kelch like family member 3,gene with protein product,5q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22073419],605775,ENSG00000146021,,Q9UH77,Q9UH77,HGNC:6354 +GARD:0017373,Orphanet,300530,ORPHA:300530,1,CUL3,,cullin 3,gene with protein product,2q36.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22073419],603136,ENSG00000036257,,Q13618,Q13618,HGNC:2553 +GARD:0017374,Orphanet,300547,ORPHA:300547,2,CYP24A1,"[CP24, P450-CC24]",cytochrome P450 family 24 subfamily A member 1,gene with protein product,20q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21675912],126065,ENSG00000019186,1365,Q07973,Q07973,HGNC:2602 +GARD:0017374,Orphanet,300547,ORPHA:300547,2,SLC34A1,"[NAPI-3, NPTIIa, Na+-phosphate cotransporter type II, SLC11, sodium/phosphate co-transporter, solute carrier family 17 (sodium phosphate), member 2]",solute carrier family 34 member 1,gene with protein product,5q35.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26047794],182309,ENSG00000131183,1135,Q06495,Q06495,HGNC:11019 +GARD:0017375,Orphanet,300573,ORPHA:300573,1,TUBB2B,"[DKFZp566F223, MGC8685, bA506K6.1, class IIb beta-tubulin]",tubulin beta 2B class IIb,gene with protein product,6p25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:19465910],612850,ENSG00000137285,,Q9BVA1,Q9BVA1,HGNC:30829 +GARD:0017376,Orphanet,300576,ORPHA:300576,1,AXIN2,"[DKFZp781B0869, MGC126582, axil, conductin]",axin 2,gene with protein product,17q24.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15042511, PMID:21416598]",604025,ENSG00000168646,,Q9Y2T1,Q9Y2T1,HGNC:904 +GARD:0017377,Orphanet,306504,ORPHA:306504,1,ITGA3,"[CD49c, GAP-B3, VCA-2, VLA3a, alpha 3 subunit of VLA-3 receptor, antigen CD49C]",integrin subunit alpha 3,gene with protein product,17q21.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22512183],605025,ENSG00000005884,2442,P26006,P26006,HGNC:6139 +GARD:0017378,Orphanet,306511,ORPHA:306511,1,AP5Z1,"[SPG48, zeta]",adaptor related protein complex 5 subunit zeta 1,gene with protein product,7p22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20613862],613653,ENSG00000242802,,O43299,,HGNC:22197 +GARD:0017379,Orphanet,306530,ORPHA:306530,1,HOXB1,,homeobox B1,gene with protein product,17q21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:22770981],142968,ENSG00000120094,,P14653,P14653,HGNC:5111 +GARD:0017380,Orphanet,306547,ORPHA:306547,1,JAM3,"[JAM-C, JAMC]",junctional adhesion molecule 3,gene with protein product,11q25,Disease-causing germline mutation(s) in,Assessed,[PMID:21109224],606871,ENSG00000166086,,Q9BX67,Q9BX67,HGNC:15532 +GARD:0017381,Orphanet,306558,ORPHA:306558,2,YIPF5,"[FinGER5, SMAP-5]",Yip1 domain family member 5,gene with protein product,5q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:33164987],611483,ENSG00000145817,,Q969M3,,HGNC:24877 +GARD:0017381,Orphanet,306558,ORPHA:306558,2,IER3IP1,,immediate early response 3 interacting protein 1,gene with protein product,18q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21835305],609382,ENSG00000134049,,Q9Y5U9,Q9Y5U9,HGNC:18550 +GARD:0017382,Orphanet,306577,ORPHA:306577,3,SCN11A,"[NaN, Nav1.9, SNS-2]",sodium voltage-gated channel alpha subunit 11,gene with protein product,3p22.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24776970],604385,ENSG00000168356,586,Q9UI33,Q9UI33,HGNC:10583 +GARD:0017382,Orphanet,306577,ORPHA:306577,3,SCN9A,"[ETHA, NE-NA, NENA, Nav1.7, PN1]",sodium voltage-gated channel alpha subunit 9,gene with protein product,2q24.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:21698661],603415,ENSG00000169432,584,Q15858,Q15858,HGNC:10597 +GARD:0017382,Orphanet,306577,ORPHA:306577,3,SCN10A,"[Nav1.8, PN3, SNS, hPN3, peripheral nerve sodium channel 3, sensory neuron sodium channel]",sodium voltage-gated channel alpha subunit 10,gene with protein product,3p22.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23115331],604427,ENSG00000185313,585,Q9Y5Y9,Q9Y5Y9,HGNC:10582 +GARD:0017383,Orphanet,306734,ORPHA:306734,1,DYT21,,"dystonia 21, torsion (autosomal dominant)",Disorder-associated locus,2q14.3-q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21301909],,,,,,HGNC:39436 +GARD:0017385,Orphanet,308380,ORPHA:308380,1,MMADHC,"[CL25022, cblD]",metabolism of cobalamin associated D,gene with protein product,2q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18385497],611935,ENSG00000168288,,Q9H3L0,Q9H3L0,HGNC:25221 +GARD:0017386,Orphanet,308386,ORPHA:308386,1,MOCS1,[MOCOD],molybdenum cofactor synthesis 1,gene with protein product,6p21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,,603707,ENSG00000124615,,Q9NZB8,Q9NZB8,HGNC:7190 +GARD:0017387,Orphanet,308393,ORPHA:308393,1,MOCS2,"[MOCO1, MOCS2A, MOCS2B, molybdopterin synthase catalytic subunit, molybdopterin synthase large subunit, molybdopterin synthase small subunit]",molybdenum cofactor synthesis 2,gene with protein product,5q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,,603708,ENSG00000164172,,O96007; O96033,O96007; O96033,HGNC:7193 +GARD:0017388,Orphanet,308400,ORPHA:308400,1,GPHN,[KIAA1385],gephyrin,gene with protein product,14q23.3,Disease-causing germline mutation(s) in,Assessed,,603930,ENSG00000171723,,Q9NQX3,Q9NQX3,HGNC:15465 +GARD:0017389,Orphanet,308410,ORPHA:308410,1,BCKDK,,branched chain keto acid dehydrogenase kinase,gene with protein product,16p11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22956686],614901,ENSG00000103507,1939,O14874,O14874,HGNC:16902 +GARD:0017390,Orphanet,308425,ORPHA:308425,1,MCEE,"[GLOD2, MCE, glyoxalase domain containing 2, methylmalonyl CoA isomerase]",methylmalonyl-CoA epimerase,gene with protein product,2p13.3,Disease-causing germline mutation(s) in,Assessed,,608419,ENSG00000124370,,Q96PE7,Q96PE7,HGNC:16732 +GARD:0017391,Orphanet,308442,ORPHA:308442,1,MMADHC,"[CL25022, cblD]",metabolism of cobalamin associated D,gene with protein product,2q23.2,Disease-causing germline mutation(s) in,Assessed,,611935,ENSG00000168288,,Q9H3L0,Q9H3L0,HGNC:25221 +GARD:0017392,Orphanet,308473,ORPHA:308473,1,GALE,"[SDR1E1, UDP-glucose 4-epimerase, short chain dehydrogenase/reductase family 1E, member 1]",UDP-galactose-4-epimerase,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,,606953,ENSG00000117308,,Q14376,Q14376,HGNC:4116 +GARD:0017393,Orphanet,308487,ORPHA:308487,1,GALE,"[SDR1E1, UDP-glucose 4-epimerase, short chain dehydrogenase/reductase family 1E, member 1]",UDP-galactose-4-epimerase,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,,606953,ENSG00000117308,,Q14376,Q14376,HGNC:4116 +GARD:0017394,Orphanet,308621,ORPHA:308621,1,GBE1,"[Andersen disease, glycogen branching enzyme, glycogen storage disease type IV]","1,4-alpha-glucan branching enzyme 1",gene with protein product,3p12.2,Disease-causing germline mutation(s) in,Assessed,,607839,ENSG00000114480,,Q04446,Q04446,HGNC:4180 +GARD:0017395,Orphanet,308638,ORPHA:308638,1,GBE1,"[Andersen disease, glycogen branching enzyme, glycogen storage disease type IV]","1,4-alpha-glucan branching enzyme 1",gene with protein product,3p12.2,Disease-causing germline mutation(s) in,Assessed,,607839,ENSG00000114480,,Q04446,Q04446,HGNC:4180 +GARD:0017396,Orphanet,308655,ORPHA:308655,1,GBE1,"[Andersen disease, glycogen branching enzyme, glycogen storage disease type IV]","1,4-alpha-glucan branching enzyme 1",gene with protein product,3p12.2,Disease-causing germline mutation(s) in,Assessed,,607839,ENSG00000114480,,Q04446,Q04446,HGNC:4180 +GARD:0017397,Orphanet,308670,ORPHA:308670,1,GBE1,"[Andersen disease, glycogen branching enzyme, glycogen storage disease type IV]","1,4-alpha-glucan branching enzyme 1",gene with protein product,3p12.2,Disease-causing germline mutation(s) in,Assessed,,607839,ENSG00000114480,,Q04446,Q04446,HGNC:4180 +GARD:0017398,Orphanet,308684,ORPHA:308684,1,GBE1,"[Andersen disease, glycogen branching enzyme, glycogen storage disease type IV]","1,4-alpha-glucan branching enzyme 1",gene with protein product,3p12.2,Disease-causing germline mutation(s) in,Assessed,,607839,ENSG00000114480,,Q04446,Q04446,HGNC:4180 +GARD:0017399,Orphanet,308698,ORPHA:308698,1,GBE1,"[Andersen disease, glycogen branching enzyme, glycogen storage disease type IV]","1,4-alpha-glucan branching enzyme 1",gene with protein product,3p12.2,Disease-causing germline mutation(s) in,Assessed,,607839,ENSG00000114480,,Q04446,Q04446,HGNC:4180 +GARD:0017400,Orphanet,308712,ORPHA:308712,1,GBE1,"[Andersen disease, glycogen branching enzyme, glycogen storage disease type IV]","1,4-alpha-glucan branching enzyme 1",gene with protein product,3p12.2,Disease-causing germline mutation(s) in,Assessed,,607839,ENSG00000114480,,Q04446,Q04446,HGNC:4180 +GARD:0017404,Orphanet,309162,ORPHA:309162,1,HEXB,[beta-hexosaminidase subunit beta],hexosaminidase subunit beta,gene with protein product,5q13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20798201],606873,ENSG00000049860,,P07686,P07686,HGNC:4879 +GARD:0017405,Orphanet,309169,ORPHA:309169,1,HEXB,[beta-hexosaminidase subunit beta],hexosaminidase subunit beta,gene with protein product,5q13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20798201],606873,ENSG00000049860,,P07686,P07686,HGNC:4879 +GARD:0017406,Orphanet,309246,ORPHA:309246,1,GM2A,"[SAP-3, cerebroside sulfate activator protein, sphingolipid activator protein 3]",GM2 ganglioside activator,gene with protein product,5q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:8900233],613109,ENSG00000196743,,P17900,P17900,HGNC:4367 +GARD:0017407,Orphanet,309282,ORPHA:309282,1,MAN2B1,[LAMAN],mannosidase alpha class 2B member 1,gene with protein product,19p13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:19958498],609458,ENSG00000104774,,O00754,O00754,HGNC:6826 +GARD:0017408,Orphanet,309288,ORPHA:309288,1,MAN2B1,[LAMAN],mannosidase alpha class 2B member 1,gene with protein product,19p13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:19958498],609458,ENSG00000104774,,O00754,O00754,HGNC:6826 +GARD:0017409,Orphanet,313772,ORPHA:313772,1,AFG3L2,[SPAX5],AFG3 like matrix AAA peptidase subunit 2,gene with protein product,18p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:22022284],604581,ENSG00000141385,,Q9Y4W6,Q9Y4W6,HGNC:315 +GARD:0017410,Orphanet,313795,ORPHA:313795,1,RBBP8,"[COM1, CTBP-interacting protein, CtIP, RIM]","RB binding protein 8, endonuclease",gene with protein product,18q11.2,Disease-causing germline mutation(s) in,Assessed,,604124,ENSG00000101773,,Q99708,Q99708,HGNC:9891 +GARD:0017411,Orphanet,313800,ORPHA:313800,1,ALPK1,,alpha kinase 1,gene with protein product,4q25,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30967659],607347,ENSG00000073331,1930,Q96QP1,,HGNC:20917 +GARD:0017412,Orphanet,313838,ORPHA:313838,2,STN1,"[FLJ22559, bA541N10.2]",STN1 subunit of CST complex,gene with protein product,10q24.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25957586],613128,ENSG00000107960,,Q9H668,Q9H668,HGNC:26200 +GARD:0017412,Orphanet,313838,ORPHA:313838,2,CTC1,"[AAF132, Conserved telomere capping protein 1, Conserved telomere maintenance component 1, FLJ22170, alpha accessory factor 132, conserved telomere capping protein 1, conserved telomere maintenance component 1]",CST telomere replication complex component 1,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22267198],613129,ENSG00000178971,,Q2NKJ3,,HGNC:26169 +GARD:0017413,Orphanet,313846,ORPHA:313846,1,ATR,"[FRP1, MEC1, MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae), SCKL, SCKL1]",ATR serine/threonine kinase,gene with protein product,3q23,Disease-causing germline mutation(s) in,Assessed,[PMID:22341969],601215,ENSG00000175054,1935,Q13535,Q13535,HGNC:882 +GARD:0017414,Orphanet,313884,ORPHA:313884,1,SOX5,"[L-SOX5, MGC35153]",SRY-box transcription factor 5,gene with protein product,12p12.1,Role in the phenotype of,Assessed,[PMID:22290657],604975,ENSG00000134532,,P35711,P35711,HGNC:11201 +GARD:0017415,Orphanet,313892,ORPHA:313892,1,SOX5,"[L-SOX5, MGC35153]",SRY-box transcription factor 5,gene with protein product,12p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22290657],604975,ENSG00000134532,,P35711,P35711,HGNC:11201 +GARD:0017416,Orphanet,314022,ORPHA:314022,1,APC,"[DP2, DP2.5, DP3, PPP1R46, protein phosphatase 1, regulatory subunit 46]",APC regulator of WNT signaling pathway,gene with protein product,5q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27087319],611731,ENSG00000134982,,P25054,P25054,HGNC:583 +GARD:0017417,Orphanet,314373,ORPHA:314373,1,GUCY2C,"[STA receptor, STAR, heat stable enterotoxin receptor]",guanylate cyclase 2C,gene with protein product,12p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22436048],601330,ENSG00000070019,1750,P25092,P25092,HGNC:4688 +GARD:0017418,Orphanet,314376,ORPHA:314376,1,GUCY2C,"[STA receptor, STAR, heat stable enterotoxin receptor]",guanylate cyclase 2C,gene with protein product,12p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22521417],601330,ENSG00000070019,1750,P25092,P25092,HGNC:4688 +GARD:0017419,Orphanet,314394,ORPHA:314394,1,POC1A,[DKFZP434C245],POC1 centriolar protein A,gene with protein product,3p21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22840363, PMID:22840364]",614783,ENSG00000164087,,Q8NBT0,Q8NBT0,HGNC:24488 +GARD:0017420,Orphanet,314399,ORPHA:314399,1,SRP72,,signal recognition particle 72,gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,[PMID:22541560],602122,ENSG00000174780,,O76094,O76094,HGNC:11303 +GARD:0017421,Orphanet,314485,ORPHA:314485,2,VWA1,"[FLJ22215, VWA-1, WARP]",von Willebrand factor A domain containing 1,gene with protein product,1p36.33,Disease-causing germline mutation(s) in,Assessed,[PMID:33559681],611901,ENSG00000179403,,Q6PCB0,,HGNC:30910 +GARD:0017421,Orphanet,314485,ORPHA:314485,2,DNAJB2,"[CMT2T, HSPF3]",DnaJ heat shock protein family (Hsp40) member B2,gene with protein product,2q35,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22522442],604139,ENSG00000135924,,P25686,,HGNC:5228 +GARD:0017422,Orphanet,314555,ORPHA:314555,1,IRX5,[IRX-2a],iroquois homeobox 5,gene with protein product,16q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22581230],606195,ENSG00000176842,,P78411,,HGNC:14361 +GARD:0017425,Orphanet,314603,ORPHA:314603,1,MARS2,"['methionine tRNA ligase 2, mitochondrial', Methionine tRNA ligase 2, mitochondrial, SPAX3, mtMetRS]","methionyl-tRNA synthetase 2, mitochondrial",gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22448145],609728,ENSG00000247626,,Q96GW9,Q96GW9,HGNC:25133 +GARD:0017426,Orphanet,314629,ORPHA:314629,1,GRN,"[CLN11, PCDGF, PGRN, progranulin]",granulin precursor,gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:22608501],138945,ENSG00000030582,,P28799,P28799,HGNC:4601 +GARD:0017427,Orphanet,314632,ORPHA:314632,1,ATP13A2,"[CLN12, HSA9947]",ATPase cation transporting 13A2,gene with protein product,1p36.13,Disease-causing germline mutation(s) in,Assessed,[PMID:22388936],610513,ENSG00000159363,3156,Q9NQ11,Q9NQ11,HGNC:30213 +GARD:0017428,Orphanet,314637,ORPHA:314637,1,MTO1,,mitochondrial tRNA translation optimization 1,gene with protein product,6q13,Disease-causing germline mutation(s) in,Assessed,,614667,ENSG00000135297,,Q9Y2Z2,Q9Y2Z2,HGNC:19261 +GARD:0017429,Orphanet,314647,ORPHA:314647,1,CAMTA1,[KIAA0833],calmodulin binding transcription activator 1,gene with protein product,1p36.31-p36.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22693284],611501,ENSG00000171735,,Q9Y6Y1,,HGNC:18806 +GARD:0017430,Orphanet,314689,ORPHA:314689,1,STK4,"[KRS2, Kinase responsive to stress 2, MST1, Mammalian sterile 20-like 1, YSK3, Yeast Ste20-like, hippo (Drosophila) homolog, kinase responsive to stress 2, mammalian sterile 20-like 1, yeast Ste20-like]",serine/threonine kinase 4,gene with protein product,20q13.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:22174160, PMID:22294732]",604965,ENSG00000101109,2225,Q13043,Q13043,HGNC:11408 +GARD:0017432,Orphanet,314718,ORPHA:314718,1,EFEMP2,"[FBLN4, UPH1, fibulin 4]",EGF containing fibulin extracellular matrix protein 2,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22943132],604633,ENSG00000172638,,O95967,O95967,HGNC:3219 +GARD:0017433,Orphanet,314721,ORPHA:314721,1,SMOC2,[SMAP2],SPARC related modular calcium binding 2,gene with protein product,6q27,Disease-causing germline mutation(s) in,Assessed,[PMID:22152679],607223,ENSG00000112562,,Q9H3U7,,HGNC:20323 +GARD:0017434,Orphanet,314795,ORPHA:314795,1,SHOX,"[GCFX, PHOG, SHOXY, SS]",short stature homeobox,gene with protein product,Xp22.33; Yp11.32,Disease-causing germline mutation(s) in,Assessed,[PMID:26698168],312865; 400020,ENSG00000185960,,O15266,,HGNC:10853 +GARD:0017435,Orphanet,314802,ORPHA:314802,1,GHR,"[GHBP, growth hormone binding protein]",growth hormone receptor,gene with protein product,5p13.1-p12,Disease-causing germline mutation(s) in,Assessed,,600946,ENSG00000112964,1720,P10912,P10912,HGNC:4263 +GARD:0017436,Orphanet,314811,ORPHA:314811,1,GHSR,,growth hormone secretagogue receptor,gene with protein product,3q26.31,Disease-causing germline mutation(s) in,Assessed,,601898,ENSG00000121853,246,Q92847,Q92847,HGNC:4267 +GARD:0017437,Orphanet,314911,ORPHA:314911,1,ASPA,"[ACY2, ASP, Canavan disease, aminoacylase 2]",aspartoacylase,gene with protein product,17p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301412, PMID:21625469]",608034,ENSG00000108381,,P45381,P45381,HGNC:756 +GARD:0017438,Orphanet,314918,ORPHA:314918,1,ASPA,"[ACY2, ASP, Canavan disease, aminoacylase 2]",aspartoacylase,gene with protein product,17p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301412, PMID:21625469]",608034,ENSG00000108381,,P45381,P45381,HGNC:756 +GARD:0017439,Orphanet,314978,ORPHA:314978,1,ATP2B3,"[CFAP39, PMCA3, Plasma membrane calcium-transporting ATPase 3, cilia and flagella associated protein 39, plasma membrane calcium-transporting ATPase 3]",ATPase plasma membrane Ca2+ transporting 3,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,,300014,ENSG00000067842,845,Q16720,Q16720,HGNC:816 +GARD:0017441,Orphanet,317425,ORPHA:317425,1,PRKDC,"[DNA-PKC, DNA-PKcs, DNA-dependent protein kinase, DNA-dependent protein kinase catalytic subunit, DNAPK, DNAPKc, DNPK1, XRCC7, p350, p460]","protein kinase, DNA-activated, catalytic subunit",gene with protein product,8q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:19823081],600899,ENSG00000253729,2800,P78527,P78527,HGNC:9413 +GARD:0017442,Orphanet,317473,ORPHA:317473,1,IKZF1,"[Hs.54452, IKAROS, LyF-1, PPP1R92, hIk-1, protein phosphatase 1, regulatory subunit 92]",IKAROS family zinc finger 1,gene with protein product,7p12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21548011, PMID:26981933]",603023,ENSG00000185811,,Q13422,Q13422,HGNC:13176 +GARD:0017443,Orphanet,319160,ORPHA:319160,1,CCDC78,[FLJ34512],coiled-coil domain containing 78,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22818856],614666,ENSG00000162004,,A2IDD5,,HGNC:14153 +GARD:0017444,Orphanet,319189,ORPHA:319189,1,NOL3,"[ARC, CARD2, MYP, NOP30]",nucleolar protein 3,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22926851],605235,ENSG00000140939,,O60936,O60936,HGNC:7869 +GARD:0017445,Orphanet,319199,ORPHA:319199,1,VPS37A,"[FLJ32642, HCRP1, Hepatocellular carcinoma related protein 1, SPG53, hepatocellular carcinoma related protein 1]",VPS37A subunit of ESCRT-I,gene with protein product,8p22,Disease-causing germline mutation(s) in,Assessed,[PMID:22717650],609927,ENSG00000155975,,Q8NEZ2,Q8NEZ2,HGNC:24928 +GARD:0017446,Orphanet,319308,ORPHA:319308,7,TFE3,"[TFEA, bHLHe33, transcription factor E family, member A]",transcription factor binding to IGHM enhancer 3,gene with protein product,Xp11.23,Part of a fusion gene in,Assessed,"[PMID:22207547, PMID:23426439]",314310,ENSG00000068323,,P19532,P19532,HGNC:11752 +GARD:0017446,Orphanet,319308,ORPHA:319308,7,CLTC,[Hc],clathrin heavy chain,gene with protein product,17q23.1,Part of a fusion gene in,Assessed,"[PMID:12917640, PMID:20073616]",118955,ENSG00000141367,,Q00610,Q00610,HGNC:2092 +GARD:0017446,Orphanet,319308,ORPHA:319308,7,ASPSCR1,"[ASPL, ASPS, TUG, Tether containing UBX domain for GLUT4, UBX domain protein 9, UBXD9, UBXN9]","ASPSCR1 tether for SLC2A4, UBX domain containing",gene with protein product,17q25.3,Part of a fusion gene in,Assessed,"[PMID:15992428, PMID:20073616, PMID:22207547]",606236,ENSG00000169696,,Q9BZE9,Q9BZE9,HGNC:13825 +GARD:0017446,Orphanet,319308,ORPHA:319308,7,NONO,"[NMT55, NRB54, Nuclear RNA-binding protein, 54-kD, P54, P54NRB, PPP1R114, non-Pou domain-containing octamer (ATGCAAAT) binding protein, protein phosphatase 1, regulatory subunit 114]",non-POU domain containing octamer binding,gene with protein product,Xq13.1,Part of a fusion gene in,Assessed,"[PMID:20073616, PMID:9393982]",300084,ENSG00000147140,,Q15233,Q15233,HGNC:7871 +GARD:0017446,Orphanet,319308,ORPHA:319308,7,PRCC,[RCCP1],proline rich mitotic checkpoint control factor,gene with protein product,1q23.1,Part of a fusion gene in,Assessed,"[PMID:20073616, PMID:22207547, PMID:8872474]",179755,ENSG00000143294,,Q92733,Q92733,HGNC:9343 +GARD:0017446,Orphanet,319308,ORPHA:319308,7,TFEB,"[TCFEB, bHLHe35]",transcription factor EB,gene with protein product,6p21.1,Part of a fusion gene in,Assessed,"[PMID:12837690, PMID:23426439]",600744,ENSG00000112561,,P19484,,HGNC:11753 +GARD:0017446,Orphanet,319308,ORPHA:319308,7,SFPQ,"[PPP1R140, PSF, Polypyrimidine tract binding protein associated, polypyrimidine tract binding protein associated, protein phosphatase 1, regulatory subunit 140]",splicing factor proline and glutamine rich,gene with protein product,1p34.3,Part of a fusion gene in,Assessed,"[PMID:20073616, PMID:9393982]",605199,ENSG00000116560,,P23246,P23246,HGNC:10774 +GARD:0017447,Orphanet,319332,ORPHA:319332,1,SYNE1,"[8B, ARCA1, CPG2, Enaptin, KIAA0796, MYNE1, Nesp1, Nesprin-1, SCAR8, SYNE-1B, dJ45H2.2, enaptin, myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1]",spectrin repeat containing nuclear envelope protein 1,gene with protein product,6q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:19542096],608441,ENSG00000131018,,Q8NF91,Q8NF91,HGNC:17089 +GARD:0017448,Orphanet,319340,ORPHA:319340,1,MYH8,"[MyHC-peri, MyHC-pn]",myosin heavy chain 8,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:15282353],160741,ENSG00000133020,,P13535,P13535,HGNC:7578 +GARD:0017449,Orphanet,319462,ORPHA:319462,1,BRCA2,"[BRCA1/BRCA2-containing complex, subunit 2, BRCC2, FAD, FAD1, XRCC11]",BRCA2 DNA repair associated,gene with protein product,13q13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:14670928, PMID:15689453, PMID:16825431]",600185,ENSG00000139618,,P51587,P51587,HGNC:1101 +GARD:0017450,Orphanet,319465,ORPHA:319465,4,GATA2,[NFE1B],GATA binding protein 2,gene with protein product,3q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21892162, PMID:25397911]",137295,ENSG00000179348,,P23769,P23769,HGNC:4171 +GARD:0017450,Orphanet,319465,ORPHA:319465,4,ERCC6L2,"[FLJ37706, HEBO, RAD26L]",ERCC excision repair 6 like 2,gene with protein product,9q22.32,Disease-causing germline mutation(s) in,Assessed,[PMID:30936069],615667,ENSG00000182150,,Q5T890,,HGNC:26922 +GARD:0017450,Orphanet,319465,ORPHA:319465,4,TGM6,"[SCA35, TGY, dJ734P14.3, protein-glutamine gamma-glutamyltransferase 6, spinocerebellar ataxia 35]",transglutaminase 6,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,[PMID:24755948],613900,ENSG00000166948,,O95932,,HGNC:16255 +GARD:0017450,Orphanet,319465,ORPHA:319465,4,CEBPA,[C/EBP-alpha],CCAAT enhancer binding protein alpha,gene with protein product,19q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:22649106],116897,ENSG00000245848,,P49715,P49715,HGNC:1833 +GARD:0017451,Orphanet,319480,ORPHA:319480,1,CEBPA,[C/EBP-alpha],CCAAT enhancer binding protein alpha,gene with protein product,19q13.11,Disease-causing somatic mutation(s) in,Assessed,"[PMID:19357394, PMID:22649106]",116897,ENSG00000245848,,P49715,P49715,HGNC:1833 +GARD:0017452,Orphanet,319504,ORPHA:319504,1,AARS2,"[KIAA1270, alanine tRNA ligase 2, mitochondrial, bA444E17.1]","alanyl-tRNA synthetase 2, mitochondrial",gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21549344],612035,ENSG00000124608,,Q5JTZ9,Q5JTZ9,HGNC:21022 +GARD:0017453,Orphanet,319509,ORPHA:319509,1,MRPL3,[MRL3],mitochondrial ribosomal protein L3,gene with protein product,3q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21786366],607118,ENSG00000114686,,P09001,P09001,HGNC:10379 +GARD:0017454,Orphanet,319514,ORPHA:319514,1,PNPT1,"[3'-5' RNA exonuclease, OLD35, PNPase, Polynucleotide phosphorylase, old-35, polynucleotide phosphorylase]",polyribonucleotide nucleotidyltransferase 1,gene with protein product,2p16.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23084291],610316,ENSG00000138035,,Q8TCS8,,HGNC:23166 +GARD:0017455,Orphanet,319519,ORPHA:319519,1,FARS2,"['phenylalanine tRNA ligase 2, mitochondrial', Phenylalanine tRNA ligase 2, mitochondrial, dJ236A3.1, mtPheRS]","phenylalanyl-tRNA synthetase 2, mitochondrial",gene with protein product,6p25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22499341],611592,ENSG00000145982,,O95363,O95363,HGNC:21062 +GARD:0017456,Orphanet,319524,ORPHA:319524,1,MTFMT,[FMT1],mitochondrial methionyl-tRNA formyltransferase,gene with protein product,15q22.31,Disease-causing germline mutation(s) in,Assessed,[PMID:21907147],611766,ENSG00000103707,,Q96DP5,Q96DP5,HGNC:29666 +GARD:0017457,Orphanet,319547,ORPHA:319547,1,IFNGR2,[AF-1],interferon gamma receptor 2,gene with protein product,21q22.11,Disease-causing germline mutation(s) in,Assessed,,147569,ENSG00000159128,1726,P38484,P38484,HGNC:5440 +GARD:0017458,Orphanet,319563,ORPHA:319563,1,ISG15,"[IFI15, UCRP]",ISG15 ubiquitin like modifier,gene with protein product,1p36.33,Disease-causing germline mutation(s) in,Assessed,[PMID:22859821],147571,ENSG00000187608,,P05161,P05161,HGNC:4053 +GARD:0017459,Orphanet,319569,ORPHA:319569,1,IFNGR1,[CD119],interferon gamma receptor 1,gene with protein product,6q23.3,Disease-causing germline mutation(s) in,Assessed,,107470,ENSG00000027697,1725,P15260,P15260,HGNC:5439 +GARD:0017460,Orphanet,319574,ORPHA:319574,1,IFNGR2,[AF-1],interferon gamma receptor 2,gene with protein product,21q22.11,Disease-causing germline mutation(s) in,Assessed,,147569,ENSG00000159128,1726,P38484,P38484,HGNC:5440 +GARD:0017461,Orphanet,319581,ORPHA:319581,1,IFNGR1,[CD119],interferon gamma receptor 1,gene with protein product,6q23.3,Disease-causing germline mutation(s) in,Assessed,,107470,ENSG00000027697,1725,P15260,P15260,HGNC:5439 +GARD:0017462,Orphanet,319595,ORPHA:319595,1,STAT1,"[ISGF-3, STAT91, transcription factor ISGF-3 components p91/p84]",signal transducer and activator of transcription 1,gene with protein product,2q32.2,Disease-causing germline mutation(s) in,Assessed,,600555,ENSG00000115415,,P42224,P42224,HGNC:11362 +GARD:0017463,Orphanet,319600,ORPHA:319600,1,IRF8,"[ICSBP, IRF-8]",interferon regulatory factor 8,gene with protein product,16q24.1,Disease-causing germline mutation(s) in,Assessed,,601565,ENSG00000140968,,Q02556,Q02556,HGNC:5358 +GARD:0017465,Orphanet,319623,ORPHA:319623,1,CYBB,"[GP91-PHOX, NADPH oxidase 2, NOX2]",cytochrome b-245 beta chain,gene with protein product,Xp21.1-p11.4,Disease-causing germline mutation(s) in,Assessed,,300481,ENSG00000165168,3002,P04839,P04839,HGNC:2578 +GARD:0017466,Orphanet,319635,ORPHA:319635,1,GPNMB,"[HGFIN, NMB, glycoprotein NMB, glycoprotein nmb-like protein, glycoprotein nonmetastatic melanoma protein B, hematopoietic growth factor inducible neurokinin-1, osteoactivin, transmembrane glycoprotein]",glycoprotein nmb,gene with protein product,7p15.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29336782],604368,ENSG00000136235,,Q14956,Q14956,HGNC:4462 +GARD:0017467,Orphanet,319640,ORPHA:319640,1,PROM1,"[AC133, CD133, CORD12, RP41]",prominin 1,gene with protein product,4p15.32,Disease-causing germline mutation(s) in,Assessed,[PMID:20393116],604365,ENSG00000007062,,O43490,,HGNC:9454 +GARD:0017468,Orphanet,319671,ORPHA:319671,1,LARP7,"[DKFZP564K112, HDCMA18P, P-TEFb-interaction protein for 7SK stability, PIP7S]","La ribonucleoprotein 7, transcriptional regulator",gene with protein product,4q25,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22865833],612026,ENSG00000174720,,Q4G0J3,Q4G0J3,HGNC:24912 +GARD:0017469,Orphanet,319675,ORPHA:319675,1,NIN,,ninein,gene with protein product,14q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22933543],608684,ENSG00000100503,,Q8N4C6,Q8N4C6,HGNC:14906 +GARD:0017470,Orphanet,319678,ORPHA:319678,1,COQ9,[DKFZP434K046],coenzyme Q9,gene with protein product,16q21,Disease-causing germline mutation(s) in,Assessed,[PMID:19375058],612837,ENSG00000088682,,O75208,O75208,HGNC:25302 +GARD:0017471,Orphanet,320355,ORPHA:320355,1,SPG41,,spastic paraplegia 41 (autosomal dominant),Disorder-associated locus,11p14.1-p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18364116],613364,,,,,HGNC:34382 +GARD:0017472,Orphanet,320365,ORPHA:320365,1,SPG36,,spastic paraplegia 36 (autosomal dominant),Disorder-associated locus,12q23-q24,Disease-causing germline mutation(s) in,Assessed,[PMID:19357379],,,,,,HGNC:33240 +GARD:0017473,Orphanet,320370,ORPHA:320370,1,C19ORF12,"[DKFZP762D096, MGC10922, MPAN, NBIA4, membrane protein-associated neurodegeneration, neurodegeneration with brain iron accumulation 4]",chromosome 19 open reading frame 12,gene with protein product,19q12,Disease-causing germline mutation(s) in,Assessed,[PMID:23857908],614297,ENSG00000131943,,Q9NSK7,,HGNC:25443 +GARD:0017474,Orphanet,320375,ORPHA:320375,1,MTRFR,"[COXPD7, FLJ38663, SPG55]",mitochondrial translation release factor in rescue,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:23188110],613541,ENSG00000130921,,Q9H3J6,,HGNC:26784 +GARD:0017475,Orphanet,320380,ORPHA:320380,1,DDHD2,"[KIAA0725, SPG54, iPLA1?, intracellular phospholipase A1 gamma]",DDHD domain containing 2,gene with protein product,8p11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:23176823],615003,ENSG00000085788,,O94830,O94830,HGNC:29106 +GARD:0017476,Orphanet,320391,ORPHA:320391,1,GBA2,"[AD035, Bile acid beta-glucosidase, DKFZp762K054, KIAA1605, Non-lysosomal glucosylceramidase, bile acid beta-glucosidase, glucocerebrosidase 2, non-lysosomal glucosylceramidase]",glucosylceramidase beta 2,gene with protein product,9p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23332916],609471,ENSG00000070610,,Q9HCG7,Q9HCG7,HGNC:18986 +GARD:0017477,Orphanet,320396,ORPHA:320396,1,NT5C2,"[GMP, PNT5, SPG65, cN-II, purine 5' nucleotidase]","5'-nucleotidase, cytosolic II",gene with protein product,10q24.32-q24.33,Disease-causing germline mutation(s) in,Assessed,[PMID:24482476],600417,ENSG00000076685,1236,P49902,P49902,HGNC:8022 +GARD:0017478,Orphanet,320401,ORPHA:320401,1,GJC2,"[CX46.6, CX47, SPG44, connexin 47]",gap junction protein gamma 2,gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,[PMID:19056803],608803,ENSG00000198835,731,Q5T442,Q5T442,HGNC:17494 +GARD:0017479,Orphanet,320406,ORPHA:320406,2,FLRT1,"[MGC21624, SPG68]",fibronectin leucine rich transmembrane protein 1,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24482476],604806,ENSG00000126500,,Q9NZU1,Q9NZU1,HGNC:3760 +GARD:0017479,Orphanet,320406,ORPHA:320406,2,KLC2,[FLJ12387],kinesin light chain 2,gene with protein product,11q13.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26385635],611729,ENSG00000174996,,Q9H0B6,Q9H0B6,HGNC:20716 +GARD:0017480,Orphanet,320411,ORPHA:320411,1,CYP2U1,"[SPG49, spastic paraplegia 49]",cytochrome P450 family 2 subfamily U member 1,gene with protein product,4q25,Disease-causing germline mutation(s) in,Assessed,[PMID:23176821],610670,ENSG00000155016,1335,Q7Z449,Q7Z449,HGNC:20582 +GARD:0017481,Orphanet,324262,ORPHA:324262,1,GRM1,"[GPRC1A, MGLUR1, PPP1R85, mGlu1, protein phosphatase 1, regulatory subunit 85]",glutamate metabotropic receptor 1,gene with protein product,6q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22901947],604473,ENSG00000152822,289,Q13255,Q13255,HGNC:4593 +GARD:0017482,Orphanet,324290,ORPHA:324290,1,PRDM8,[KMT8D],PR/SET domain 8,gene with protein product,4q21.21,Disease-causing germline mutation(s) in,Assessed,[PMID:22961547],616639,ENSG00000152784,,Q9NQV8,,HGNC:13993 +GARD:0017483,Orphanet,324294,ORPHA:324294,1,RHOH,"[RhoH, TTF]",ras homolog family member H,gene with protein product,4p14,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22850876],602037,ENSG00000168421,,Q15669,Q15669,HGNC:686 +GARD:0017484,Orphanet,324321,ORPHA:324321,1,CACNA1D,"[CACH3, CACN4, Cav1.3]",calcium voltage-gated channel subunit alpha1 D,gene with protein product,3p21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21131953],114206,ENSG00000157388,530,Q01668,Q01668,HGNC:1391 +GARD:0017485,Orphanet,324410,ORPHA:324410,1,CLIC2,"[CLCNL2, XAP121]",chloride intracellular channel 2,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:22814392],300138,ENSG00000155962,,O15247,O15247,HGNC:2063 +GARD:0017486,Orphanet,324530,ORPHA:324530,1,PLCG2,,phospholipase C gamma 2,gene with protein product,16q24.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23000145],600220,ENSG00000197943,1408,P16885,P16885,HGNC:9066 +GARD:0017487,Orphanet,324535,ORPHA:324535,1,RMND1,"[FLJ20627, RMD1, bA351K16.3]",required for meiotic nuclear division 1 homolog,gene with protein product,6q25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23022098, PMID:23022099]",614917,ENSG00000155906,,Q9NWS8,,HGNC:21176 +GARD:0017488,Orphanet,324569,ORPHA:324569,1,CHMP1A,"[CHMP1, KIAA0047, Vps46A]",charged multivesicular body protein 1A,gene with protein product,16q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23023333],164010,ENSG00000131165,,Q9HD42,Q9HD42,HGNC:8740 +GARD:0017489,Orphanet,324703,ORPHA:324703,1,APP,"[alpha-sAPP, peptidase nexin-II]",amyloid beta precursor protein,gene with protein product,21q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:16178030],104760,ENSG00000142192,,P05067,P05067,HGNC:620 +GARD:0017490,Orphanet,324708,ORPHA:324708,1,APP,"[alpha-sAPP, peptidase nexin-II]",amyloid beta precursor protein,gene with protein product,21q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12557012],104760,ENSG00000142192,,P05067,P05067,HGNC:620 +GARD:0017491,Orphanet,324713,ORPHA:324713,1,APP,"[alpha-sAPP, peptidase nexin-II]",amyloid beta precursor protein,gene with protein product,21q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20697050],104760,ENSG00000142192,,P05067,P05067,HGNC:620 +GARD:0017492,Orphanet,324718,ORPHA:324718,1,APP,"[alpha-sAPP, peptidase nexin-II]",amyloid beta precursor protein,gene with protein product,21q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:1303239],104760,ENSG00000142192,,P05067,P05067,HGNC:620 +GARD:0017493,Orphanet,324723,ORPHA:324723,1,APP,"[alpha-sAPP, peptidase nexin-II]",amyloid beta precursor protein,gene with protein product,21q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18413473],104760,ENSG00000142192,,P05067,P05067,HGNC:620 +GARD:0017494,Orphanet,329173,ORPHA:329173,2,RNF31,"[FLJ10111, FLJ23501, HOIL-1-interacting protein, HOIP, Paul, ZIBRA]",ring finger protein 31,gene with protein product,14q12,Disease-causing germline mutation(s) in,Assessed,[PMID:26008899],612487,ENSG00000092098,,Q96EP0,Q96EP0,HGNC:16031 +GARD:0017494,Orphanet,329173,ORPHA:329173,2,RBCK1,"[HOIL1, Heme-oxidized IRP2 ubiquitin ligase 1, RBCK2, RNF54, UBCE7IP3, XAP4, ZRANB4, heme-oxidized IRP2 ubiquitin ligase 1]",RANBP2-type and C3HC4-type zinc finger containing 1,gene with protein product,20p13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23104095],610924,ENSG00000125826,,Q9BYM8,Q9BYM8,HGNC:15864 +GARD:0017495,Orphanet,329191,ORPHA:329191,1,NPR2,"[ANPb, GC-B, GUCY2B, guanylate cyclase 2B, guanylyl cyclase B]",natriuretic peptide receptor 2,gene with protein product,9p13.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:22870295],108961,ENSG00000159899,1748,P20594,P20594,HGNC:7944 +GARD:0017496,Orphanet,329195,ORPHA:329195,1,HERC2,"[D15F37S1, jdf2, p528]",HECT and RLD domain containing E3 ubiquitin protein ligase 2,gene with protein product,15q13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23065719, PMID:23243086]",605837,ENSG00000128731,,O95714,O95714,HGNC:4868 +GARD:0017497,Orphanet,329211,ORPHA:329211,1,CAPN5,"[ADNIV, HTRA3, nCL-3]",calpain 5,gene with protein product,11q13.5,Disease-causing germline mutation(s) in,Assessed,[PMID:23055945],602537,ENSG00000149260,,O15484,O15484,HGNC:1482 +GARD:0017498,Orphanet,329228,ORPHA:329228,1,ZNF335,"[NIF-1, NRC-interacting factor 1, bA465L10.2]",zinc finger protein 335,gene with protein product,20q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:23178126],610827,ENSG00000198026,,Q9H4Z2,Q9H4Z2,HGNC:15807 +GARD:0017499,Orphanet,329235,ORPHA:329235,1,IGSF1,"[IGCD1, IGDC1, INHBP, KIAA0364, MGC75490, PGSF2]",immunoglobulin superfamily member 1,gene with protein product,Xq25,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23143598],300137,ENSG00000147255,,Q8N6C5,,HGNC:5948 +GARD:0017500,Orphanet,329242,ORPHA:329242,2,PLVAP,"[FELS, PV-1, PV1, fenestrated-endothelial linked structure protein; PV-1 protein, gp68]",plasmalemma vesicle associated protein,gene with protein product,19p13.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29661969],607647,ENSG00000130300,,Q9BX97,,HGNC:13635 +GARD:0017500,Orphanet,329242,ORPHA:329242,2,DGAT1,"[ARGP1, DGAT]",diacylglycerol O-acyltransferase 1,gene with protein product,8q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23114594],604900,ENSG00000185000,2821,O75907,O75907,HGNC:2843 +GARD:0017501,Orphanet,329314,ORPHA:329314,1,DGUOK,[dGK],deoxyguanosine kinase,gene with protein product,2p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23043144],601465,ENSG00000114956,,Q16854,Q16854,HGNC:2858 +GARD:0017503,Orphanet,329336,ORPHA:329336,2,RRM2B,[p53R2],ribonucleotide reductase regulatory TP53 inducible subunit M2B,gene with protein product,8q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23107649],604712,ENSG00000048392,2754,Q7LG56,Q7LG56,HGNC:17296 +GARD:0017503,Orphanet,329336,ORPHA:329336,2,RNASEH1,[RNase H1],ribonuclease H1,gene with protein product,2p25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26094573],604123,ENSG00000171865,,O60930,,HGNC:18466 +GARD:0017504,Orphanet,329481,ORPHA:329481,1,APOE,,apolipoprotein E,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:21464714],107741,ENSG00000130203,,P02649,P02649,HGNC:613 +GARD:0017505,Orphanet,329802,ORPHA:329802,1,NIPBL,"[DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, IDN3, Scc2, sister chromatid cohesion 2 homolog (yeast)]",NIPBL cohesin loading factor,gene with protein product,5p13.2,Role in the phenotype of,Assessed,[PMID:23085304],608667,ENSG00000164190,,Q6KC79,Q6KC79,HGNC:28862 +GARD:0017506,Orphanet,329903,ORPHA:329903,2,DGKE,"[DAGK6, DGK]",diacylglycerol kinase epsilon,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,[PMID:23274426],601440,ENSG00000153933,,P52429,P52429,HGNC:2852 +GARD:0017506,Orphanet,329903,ORPHA:329903,2,CFH,"[ARMD4, ARMS1, FHL1, H factor 2 (complement), HUS, age-related maculopathy susceptibility 1, beta-1H]",complement factor H,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21396679],134370,ENSG00000000971,,P08603,P08603,HGNC:4883 +GARD:0017508,Orphanet,329971,ORPHA:329971,3,SMAD4,[DPC4],SMAD family member 4,gene with protein product,18q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18823382],600993,ENSG00000141646,,Q13485,Q13485,HGNC:6770 +GARD:0017508,Orphanet,329971,ORPHA:329971,3,ENG,"[CD105, END, HHT1]",endoglin,gene with protein product,9q34.11,Candidate gene tested in,Not yet assessed,"[PMID:17204053, PMID:18178612]",131195,ENSG00000106991,2895,P17813,P17813,HGNC:3349 +GARD:0017508,Orphanet,329971,ORPHA:329971,3,BMPR1A,"[ALK3, CD292]",bone morphogenetic protein receptor type 1A,gene with protein product,10q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18823382],601299,ENSG00000107779,1786,P36894,P36894,HGNC:1076 +GARD:0017509,Orphanet,330050,ORPHA:330050,1,DNM1L,"[DRP1, DVLP, DYMPLE, HDYNIV, VPS1]",dynamin 1 like,gene with protein product,12p11.21,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:17460227],603850,ENSG00000087470,,O00429,O00429,HGNC:2973 +GARD:0017511,Orphanet,331176,ORPHA:331176,1,G6PC3,[UGRP],glucose-6-phosphatase catalytic subunit 3,gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:19118303, PMID:20799326, PMID:23018568]",611045,ENSG00000141349,,Q9BUM1,Q9BUM1,HGNC:24861 +GARD:0017512,Orphanet,331187,ORPHA:331187,1,MASP2,"[MAP-2, Map19, mannose-binding lectin associated protein 19, mannose-binding lectin-associated serine protease 2, sMAP]",MBL associated serine protease 2,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,[PMID:12904520],605102,ENSG00000009724,,O00187,O00187,HGNC:6902 +GARD:0017513,Orphanet,331190,ORPHA:331190,1,FCN3,"[FCNH, HAKA1, Hakata antigen]",ficolin 3,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:19535802],604973,ENSG00000142748,,O75636,O75636,HGNC:3625 +GARD:0017514,Orphanet,331226,ORPHA:331226,1,TYK2,[JTK1],tyrosine kinase 2,gene with protein product,19p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:17088085, PMID:17521577]",176941,ENSG00000105397,2269,P29597,P29597,HGNC:12440 +GARD:0017515,Orphanet,352333,ORPHA:352333,1,ELOVL4,"[CT118, cancer/testis antigen 118]",ELOVL fatty acid elongase 4,gene with protein product,6q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22100072],605512,ENSG00000118402,,Q9GZR5,Q9GZR5,HGNC:14415 +GARD:0017516,Orphanet,352403,ORPHA:352403,1,SPTBN2,,"spectrin beta, non-erythrocytic 2",gene with protein product,11q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23236289],604985,ENSG00000173898,,O15020,O15020,HGNC:11276 +GARD:0017517,Orphanet,352447,ORPHA:352447,1,MGME1,"[DDK1, bA504H3.4]",mitochondrial genome maintenance exonuclease 1,gene with protein product,20p11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23313956],615076,ENSG00000125871,,Q9BQP7,Q9BQP7,HGNC:16205 +GARD:0017518,Orphanet,352470,ORPHA:352470,1,DNA2,[KIAA0083],DNA replication helicase/nuclease 2,gene with protein product,10q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23352259],601810,ENSG00000138346,,P51530,P51530,HGNC:2939 +GARD:0017519,Orphanet,352479,ORPHA:352479,1,CRPPA,"[4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis), D-ribitol-5-phosphate cytidylyltransferase, IspD, Nip, Notch1-induced protein, hCG_1745121, notch1-induced protein]",CDP-L-ribitol pyrophosphorylase A,gene with protein product,7p21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23288328],614631,ENSG00000214960,,A4D126,,HGNC:37276 +GARD:0017520,Orphanet,352490,ORPHA:352490,1,AUTS2,"[FBRSL2, KIAA0442]",activator of transcription and developmental regulator AUTS2,gene with protein product,7q11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:23332918],607270,ENSG00000158321,,Q8WXX7,Q8WXX7,HGNC:14262 +GARD:0017521,Orphanet,352582,ORPHA:352582,2,CPLX1,[CPX-I],complexin 1,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28422131],605032,ENSG00000168993,,O14810,O14810,HGNC:2309 +GARD:0017521,Orphanet,352582,ORPHA:352582,2,TBC1D24,"[DFNA65, KIAA1171, TBC/LysM-associated domain containing 6, TLDC6, skywalker homolog (Drosophila)]",TBC1 domain family member 24,gene with protein product,16p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20727515],613577,ENSG00000162065,,Q9ULP9,Q9ULP9,HGNC:29203 +GARD:0017522,Orphanet,352596,ORPHA:352596,1,TBC1D24,"[DFNA65, KIAA1171, TBC/LysM-associated domain containing 6, TLDC6, skywalker homolog (Drosophila)]",TBC1 domain family member 24,gene with protein product,16p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21087195, PMID:23343562]",613577,ENSG00000162065,,Q9ULP9,Q9ULP9,HGNC:29203 +GARD:0017523,Orphanet,352654,ORPHA:352654,1,UCHL1,"[PGP9.5, Uch-L1, ubiquitin thiolesterase]",ubiquitin C-terminal hydrolase L1,gene with protein product,4p13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23359680],191342,ENSG00000154277,2426,P09936,P09936,HGNC:12513 +GARD:0017525,Orphanet,352662,ORPHA:352662,1,NLRP1,"[CARD7, CLR17.1, DEFCAP, DKFZp586O1822, KIAA0926, NAC, VAMAS1, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1]",NLR family pyrin domain containing 1,gene with protein product,17p13,Disease-causing germline mutation(s) in,Assessed,[PMID:23349227],606636,ENSG00000091592,1768,Q9C000,Q9C000,HGNC:14374 +GARD:0017526,Orphanet,352682,ORPHA:352682,1,LAMB1,,laminin subunit beta 1,gene with protein product,7q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23472759],150240,ENSG00000091136,,P07942,P07942,HGNC:6486 +GARD:0017527,Orphanet,352709,ORPHA:352709,1,CTSF,"[CATSF, CLN13]",cathepsin F,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23297359],603539,ENSG00000174080,2347,Q9UBX1,Q9UBX1,HGNC:2531 +GARD:0017528,Orphanet,352712,ORPHA:352712,1,POLE,"[DNA polymerase epsilon catalytic subunit A, POLE1]","DNA polymerase epsilon, catalytic subunit",gene with protein product,12q24.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23230001],174762,ENSG00000177084,,Q07864,Q07864,HGNC:9177 +GARD:0017529,Orphanet,352718,ORPHA:352718,1,RBP4,,retinol binding protein 4,gene with protein product,10q23.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23189188],180250,ENSG00000138207,2549,P02753,P02753,HGNC:9922 +GARD:0017530,Orphanet,352737,ORPHA:352737,1,TYR,"[OCA1, OCA1A, OCAIA, oculocutaneous albinism IA]",tyrosinase,gene with protein product,11q14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301345],606933,ENSG00000077498,2643,P14679,P14679,HGNC:12442 +GARD:0017531,Orphanet,352745,ORPHA:352745,1,LRMDA,"[CDA017, OCA7, oculocutaneous albinism 7, autosomal recessive]",leucine rich melanocyte differentiation associated,gene with protein product,10q22.2-q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23395477],614537,ENSG00000148655,,Q9H2I8,,HGNC:23405 +GARD:0017532,Orphanet,353217,ORPHA:353217,1,SLC25A12,[Aralar],solute carrier family 25 member 12,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19641205],603667,ENSG00000115840,1054,O75746,O75746,HGNC:10982 +GARD:0017533,Orphanet,353220,ORPHA:353220,2,OSMR,"[OSMRB, OSMRbeta, Oncostatin-M-specific receptor subunit beta]",oncostatin M receptor,gene with protein product,5p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20507362],601743,ENSG00000145623,1714,Q99650,Q99650,HGNC:8507 +GARD:0017533,Orphanet,353220,ORPHA:353220,2,IL31RA,"[CRL, CRL3, GLM-R, Glmr, IL-31RA]",interleukin 31 receptor A,gene with protein product,5q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:19690585],609510,ENSG00000164509,1710,Q8NI17,Q8NI17,HGNC:18969 +GARD:0017534,Orphanet,353277,ORPHA:353277,1,CREBBP,"[CBP, KAT3A, RTS]",CREB binding protein,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301699],600140,ENSG00000005339,2734,Q92793,Q92793,HGNC:2348 +GARD:0017535,Orphanet,353284,ORPHA:353284,1,EP300,"[KAT3B, histone acetyltransferase p300, p300]",E1A binding protein p300,gene with protein product,22q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301699],602700,ENSG00000100393,2735,Q09472,Q09472,HGNC:3373 +GARD:0017536,Orphanet,353308,ORPHA:353308,1,PC,[PCB],pyruvate carboxylase,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301764],608786,ENSG00000173599,1262,P11498,P11498,HGNC:8636 +GARD:0017537,Orphanet,353314,ORPHA:353314,1,PC,[PCB],pyruvate carboxylase,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301764],608786,ENSG00000173599,1262,P11498,P11498,HGNC:8636 +GARD:0017538,Orphanet,353320,ORPHA:353320,1,PC,[PCB],pyruvate carboxylase,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301764],608786,ENSG00000173599,1262,P11498,P11498,HGNC:8636 +GARD:0017539,Orphanet,353327,ORPHA:353327,5,ALG2,"[CDG1I, CDGIi, FLJ14511, NET38, hALPG2]","ALG2 alpha-1,3/1,6-mannosyltransferase",gene with protein product,9q22.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23404334],607905,ENSG00000119523,,Q9H553,Q9H553,HGNC:23159 +GARD:0017539,Orphanet,353327,ORPHA:353327,5,DPAGT1,"[ALG7, CDG-Ij, D11S366, DGPT, GPT, GlcNAc-1-P transferase 1, UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1]",dolichyl-phosphate N-acetylglucosaminephosphotransferase 1,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:22742743, PMID:23404334]",191350,ENSG00000172269,,Q9H3H5,Q9H3H5,HGNC:2995 +GARD:0017539,Orphanet,353327,ORPHA:353327,5,GMPPB,"[KIAA1851, mannose-1-phosphate guanyltransferase beta]",GDP-mannose pyrophosphorylase B,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:26133662],615320,ENSG00000173540,,Q9Y5P6,Q9Y5P6,HGNC:22932 +GARD:0017539,Orphanet,353327,ORPHA:353327,5,GFPT1,"[GFA, GFAT, GFAT1]",glutamine--fructose-6-phosphate transaminase 1,gene with protein product,2p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21310273, PMID:23404334]",138292,ENSG00000198380,,Q06210,Q06210,HGNC:4241 +GARD:0017539,Orphanet,353327,ORPHA:353327,5,ALG14,[MGC19780],ALG14 UDP-N-acetylglucosaminyltransferase subunit,gene with protein product,1p21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23404334],612866,ENSG00000172339,,Q96F25,Q96F25,HGNC:28287 +GARD:0017540,Orphanet,356978,ORPHA:356978,1,SLC25A1,[CTP],solute carrier family 25 member 1,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:23393310, PMID:23561848]",190315,ENSG00000100075,1051,P53007,P53007,HGNC:10979 +GARD:0017541,Orphanet,356996,ORPHA:356996,1,ANK3,"[ankyrin-3, node of Ranvier, ankyrin-G]",ankyrin 3,gene with protein product,10q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23390136],600465,ENSG00000151150,,Q12955,Q12955,HGNC:494 +GARD:0017543,Orphanet,357008,ORPHA:357008,1,DGKE,"[DAGK6, DGK]",diacylglycerol kinase epsilon,gene with protein product,17q22,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301541, PMID:23542698]",601440,ENSG00000153933,,P52429,P52429,HGNC:2852 +GARD:0017544,Orphanet,357027,ORPHA:357027,2,MYCN,"[MYCNOT, N-myc, bHLHe37]","MYCN proto-oncogene, bHLH transcription factor",gene with protein product,2p24.3,Candidate gene tested in,Not yet assessed,"[PMID:23498719, PMID:23498720]",164840,ENSG00000134323,,P04198,P04198,HGNC:7559 +GARD:0017544,Orphanet,357027,ORPHA:357027,2,RB1,"[PPP1R130, RB, prepro-retinoblastoma-associated protein, protein phosphatase 1, regulatory subunit 130]",RB transcriptional corepressor 1,gene with protein product,13q14.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:16934146, PMID:20301625, PMID:23498719, PMID:23498780]",614041,ENSG00000139687,,P06400,P06400,HGNC:9884 +GARD:0017545,Orphanet,357034,ORPHA:357034,2,MYCN,"[MYCNOT, N-myc, bHLHe37]","MYCN proto-oncogene, bHLH transcription factor",gene with protein product,2p24.3,Candidate gene tested in,Not yet assessed,"[PMID:23498719, PMID:23498720]",164840,ENSG00000134323,,P04198,P04198,HGNC:7559 +GARD:0017545,Orphanet,357034,ORPHA:357034,2,RB1,"[PPP1R130, RB, prepro-retinoblastoma-associated protein, protein phosphatase 1, regulatory subunit 130]",RB transcriptional corepressor 1,gene with protein product,13q14.2,Disease-causing somatic mutation(s) in,Assessed,"[PMID:16934146, PMID:23498719, PMID:23498780]",614041,ENSG00000139687,,P06400,P06400,HGNC:9884 +GARD:0017546,Orphanet,357074,ORPHA:357074,3,ATP6V1A,"[V-ATPase subunit A, V-type proton ATPase (V-ATPase) catalytic subunit A, VA68, Vma1]",ATPase H+ transporting V1 subunit A,gene with protein product,3q13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:28065471],607027,ENSG00000114573,810,P38606,P38606,HGNC:851 +GARD:0017546,Orphanet,357074,ORPHA:357074,3,ATP6V1E1,"[ATP6E2, P31, V-ATPase subunit E1, Vma4]",ATPase H+ transporting V1 subunit E1,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:28065471],108746,ENSG00000131100,816,P36543,R-HSA-912606,HGNC:857 +GARD:0017546,Orphanet,357074,ORPHA:357074,3,ATP6V0A2,"[ATP6N1D, ATP6a2, J6B7, RTF, Stv1, TJ6, TJ6M, TJ6s, V-ATPase subunit a2, V-type proton ATPase 116 kDa subunit a2, Vph1, a2, a2V, regeneration and tolerance factor]",ATPase H+ transporting V0 subunit a2,gene with protein product,12q24.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:18157129, PMID:19321599, PMID:20301755]",611716,ENSG00000185344,824,Q9Y487,Q9Y487,HGNC:18481 +GARD:0017549,Orphanet,357237,ORPHA:357237,1,CARD11,"[BIMP3, CARMA1, bcl10-interacting maguk protein 3, card-maguk protein 1]",caspase recruitment domain family member 11,gene with protein product,7p22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23374270, PMID:23561803]",607210,ENSG00000198286,,Q9BXL7,Q9BXL7,HGNC:16393 +GARD:0017550,Orphanet,357329,ORPHA:357329,1,IL21R,[CD360],interleukin 21 receptor,gene with protein product,16p12.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23440042],605383,ENSG00000103522,1703,Q9HBE5,,HGNC:6006 +GARD:0017552,Orphanet,363400,ORPHA:363400,1,BSCL2,[seipin],"BSCL2 lipid droplet biogenesis associated, seipin",gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23564749],606158,ENSG00000168000,,Q96G97,,HGNC:15832 +GARD:0017553,Orphanet,363409,ORPHA:363409,1,DNM2,"[CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, cytoskeletal protein, dynamin II]",dynamin 2,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23092955],602378,ENSG00000079805,,P50570,P50570,HGNC:2974 +GARD:0017554,Orphanet,363412,ORPHA:363412,1,DARS1,"[aspartate tRNA ligase 1, cytoplasmic]",aspartyl-tRNA synthetase 1,gene with protein product,2q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23643384],603084,ENSG00000115866,,P14868,P14868,HGNC:2678 +GARD:0017555,Orphanet,363424,ORPHA:363424,1,IBA57,"['iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa', FLJ12734, Iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa]",iron-sulfur cluster assembly factor IBA57,gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,[PMID:23462291],615316,ENSG00000181873,,Q5T440,,HGNC:27302 +GARD:0017557,Orphanet,363432,ORPHA:363432,1,GRID2,"[GluD2, GluR-delta-2]",glutamate ionotropic receptor delta type subunit 2,gene with protein product,4q22.1-q22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23611888],602368,ENSG00000152208,449,O43424,,HGNC:4576 +GARD:0017558,Orphanet,363444,ORPHA:363444,1,THOC6,"[MGC2655, fSAP35, functional spliceosome-associated protein 35]",THO complex 6,gene with protein product,16p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23621916],615403,ENSG00000131652,,Q86W42,Q86W42,HGNC:28369 +GARD:0017561,Orphanet,363494,ORPHA:363494,2,KITLG,"[DFNA69, FPH2, KL-1, Kitl, SCF, SF, SLF, familial progressive hyperpigmentation 2, mast cell growth factor, steel factor, stem cell factor]",KIT ligand,gene with protein product,12q21.32,Major susceptibility factor in,Assessed,"[PMID:19483682, PMID:20228134, PMID:23640991]",184745,ENSG00000049130,,P21583,P21583,HGNC:6343 +GARD:0017561,Orphanet,363494,ORPHA:363494,2,SPRY4,,sprouty RTK signaling antagonist 4,gene with protein product,5q31.3,Major susceptibility factor in,Assessed,"[PMID:19483682, PMID:23640991]",607984,ENSG00000187678,,Q9C004,Q9C004,HGNC:15533 +GARD:0017562,Orphanet,363523,ORPHA:363523,1,COG6,"[COD2, KIAA1134]",component of oligomeric golgi complex 6,gene with protein product,13q14.11,Disease-causing germline mutation(s) in,Assessed,[PMID:23606727],606977,ENSG00000133103,,Q9Y2V7,Q9Y2V7,HGNC:18621 +GARD:0017563,Orphanet,363528,ORPHA:363528,1,ADAT3,"[TAD3, tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)]",adenosine deaminase tRNA specific 3,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23620220],615302,ENSG00000213638,,Q96EY9,Q96EY9,HGNC:25151 +GARD:0017564,Orphanet,363534,ORPHA:363534,1,TWNK,"[FLJ21832, PEO, PEO1, T7 helicase-related protein with intramitochondrial nucleoid localization, TWINKLE, TWINL]",twinkle mtDNA helicase,gene with protein product,10q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:23375728],606075,ENSG00000107815,,Q96RR1,Q96RR1,HGNC:1160 +GARD:0017565,Orphanet,363540,ORPHA:363540,1,CLCN2,"[CLC2, ClC-2, EJM6]",chloride voltage-gated channel 2,gene with protein product,3q27.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23707145],600570,ENSG00000114859,699,P51788,P51788,HGNC:2020 +GARD:0017566,Orphanet,363611,ORPHA:363611,1,CTCF,"[11 zinc finger transcriptional repressor, CFAP108, FAP108]",CCCTC-binding factor,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23746550],604167,ENSG00000102974,,P49711,P49711,HGNC:13723 +GARD:0017567,Orphanet,363654,ORPHA:363654,1,ATP6AP2,"[APT6M8-9, ATP6M8-9, M8-9, PRR, RENR, V-ATPase M8.9 subunit, prorenin receptor, renin receptor]",ATPase H+ transporting accessory protein 2,gene with protein product,Xp11.4,Disease-causing germline mutation(s) in,Assessed,[PMID:23595882],300556,ENSG00000182220,,O75787,O75787,HGNC:18305 +GARD:0017568,Orphanet,363677,ORPHA:363677,1,MYH2,"[MYH2A, MYHSA2, MYHas8, MyHC-2A, MyHC-IIa]",myosin heavy chain 2,gene with protein product,17p13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23388406],160740,ENSG00000125414,,Q9UKX2,Q9UKX2,HGNC:7572 +GARD:0017569,Orphanet,363694,ORPHA:363694,1,SARS2,"[FLJ20450, SARS, SERS, SYS, SerRSmt, mtSerRS, serine tRNA ligase 2, mitochondrial]","seryl-tRNA synthetase 2, mitochondrial",gene with protein product,19q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21255763],612804,ENSG00000104835,,Q9NP81,Q9NP81,HGNC:17697 +GARD:0017570,Orphanet,363700,ORPHA:363700,1,NF1,"[Watson disease, neurofibromatosis, von Recklinghausen disease]",neurofibromin 1,gene with protein product,17q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301288],613113,ENSG00000196712,,P21359,P21359,HGNC:7765 +GARD:0017572,Orphanet,363717,ORPHA:363717,1,GFAP,"[FLJ45472, intermediate filament protein]",glial fibrillary acidic protein,gene with protein product,17q21.31,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301351],137780,ENSG00000131095,,P14136,P14136,HGNC:4235 +GARD:0017573,Orphanet,363722,ORPHA:363722,1,GFAP,"[FLJ45472, intermediate filament protein]",glial fibrillary acidic protein,gene with protein product,17q21.31,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301351],137780,ENSG00000131095,,P14136,P14136,HGNC:4235 +GARD:0017574,Orphanet,363727,ORPHA:363727,1,GATA1,"[ERYF1, GATA-1, NF-E1, NFE1, nuclear factor, erythroid 1]",GATA binding protein 1,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:16783379],305371,ENSG00000102145,,P15976,P15976,HGNC:4170 +GARD:0017576,Orphanet,363958,ORPHA:363958,1,KANSL1,"[CENP-36, Centromere protein 36, DKFZP727C091, MSL1v1, NSL1, centromere protein 36]",KAT8 regulatory NSL complex subunit 1,gene with protein product,17q21.31,Role in the phenotype of,Assessed,[PMID:19447831],612452,ENSG00000120071,,Q7Z3B3,Q7Z3B3,HGNC:24565 +GARD:0017577,Orphanet,363972,ORPHA:363972,1,CBL,"[RNF55, c-Cbl, oncogene CBL2]",Cbl proto-oncogene,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20543203, PMID:20619386]",165360,ENSG00000110395,,P22681,P22681,HGNC:1541 +GARD:0017578,Orphanet,363981,ORPHA:363981,1,SBF1,"[DENN/MADD domain containing 7A, DENND7A, MTMR5, myotubularin related 5]",SET binding factor 1,gene with protein product,22q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23749797],603560,ENSG00000100241,,O95248,O95248,HGNC:10542 +GARD:0017579,Orphanet,363992,ORPHA:363992,2,ADAMTS17,"[FLJ16363, FLJ32769]",ADAM metallopeptidase with thrombospondin type 1 motif 17,gene with protein product,15q26.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19836009],607511,ENSG00000140470,1689,Q8TE56,Q8TE56,HGNC:17109 +GARD:0017579,Orphanet,363992,ORPHA:363992,2,CERS3,[MGC27091],ceramide synthase 3,gene with protein product,15q26.3,Role in the phenotype of,Assessed,[PMID:23754960],615276,ENSG00000154227,2476,Q8IU89,Q8IU89,HGNC:23752 +GARD:0017580,Orphanet,363999,ORPHA:363999,2,THSD1,[TMTSP],thrombospondin type 1 domain containing 1,gene with protein product,13q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30055085],616821,ENSG00000136114,,Q9NS62,Q9NS62,HGNC:17754 +GARD:0017580,Orphanet,363999,ORPHA:363999,2,ANGPT2,[Ang2],angiopoietin 2,gene with protein product,8p23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:34876502],601922,ENSG00000091879,5316,O15123,O15123,HGNC:485 +GARD:0017581,Orphanet,364028,ORPHA:364028,1,GRIA3,"[GLURC, GluA3, MRX94]",glutamate ionotropic receptor AMPA type subunit 3,gene with protein product,Xq25,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17989220],305915,ENSG00000125675,446,P42263,P42263,HGNC:4573 +GARD:0017582,Orphanet,364063,ORPHA:364063,1,ARX,"[CT121, EIEE1, ISSX, cancer/testis antigen 121]",aristaless related homeobox,gene with protein product,Xp21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17664401],300382,ENSG00000004848,,Q96QS3,,HGNC:18060 +GARD:0017584,Orphanet,369837,ORPHA:369837,1,PIGT,[GPI transamidase subunit],phosphatidylinositol glycan anchor biosynthesis class T,gene with protein product,20q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:23636107],610272,ENSG00000124155,,Q969N2,Q969N2,HGNC:14938 +GARD:0017585,Orphanet,369852,ORPHA:369852,2,RBSN,[Rabenosyn-5],"rabenosyn, RAB effector",gene with protein product,3p25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29784638],609511,ENSG00000131381,,Q9H1K0,Q9H1K0,HGNC:20759 +GARD:0017585,Orphanet,369852,ORPHA:369852,2,VPS45,"[H1, h-vps45]",vacuolar protein sorting 45 homolog,gene with protein product,1q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23738510],610035,ENSG00000136631,,Q9NRW7,Q9NRW7,HGNC:14579 +GARD:0017586,Orphanet,369861,ORPHA:369861,1,TRNT1,"[ATP(CTP):tRNA nucleotidyltransferase, CCA-adding enzyme, CCA1, CGI-47, MtCCA]",tRNA nucleotidyl transferase 1,gene with protein product,3p26.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25193871],612907,ENSG00000072756,,Q96Q11,Q96Q11,HGNC:17341 +GARD:0017587,Orphanet,369867,ORPHA:369867,1,PLEKHG5,"[GEF720, KIAA0720, Syx, Tech, synectin-binding guanine exchange factor]",pleckstrin homology and RhoGEF domain containing G5,gene with protein product,1p36.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:23777631, PMID:23844677]",611101,ENSG00000171680,,O94827,O94827,HGNC:29105 +GARD:0017588,Orphanet,369891,ORPHA:369891,1,MED13L,"[KIAA1025, TRAP240L]",mediator complex subunit 13L,gene with protein product,12q24.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23403903, PMID:25712080]",608771,ENSG00000123066,,Q71F56,Q71F56,HGNC:22962 +GARD:0017589,Orphanet,369913,ORPHA:369913,1,ELAC2,"[FLJ10530, HPC2, tRNase Z (long form)]",elaC ribonuclease Z 2,gene with protein product,17p12,Disease-causing germline mutation(s) in,Assessed,[PMID:23849775],605367,ENSG00000006744,,Q9BQ52,Q9BQ52,HGNC:14198 +GARD:0017590,Orphanet,369920,ORPHA:369920,1,AMPD2,"[AMPD isoform L, SPG63]",adenosine monophosphate deaminase 2,gene with protein product,1p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23911318],102771,ENSG00000116337,,Q01433,Q01433,HGNC:469 +GARD:0017591,Orphanet,369929,ORPHA:369929,1,CACNA1D,"[CACH3, CACN4, Cav1.3]",calcium voltage-gated channel subunit alpha1 D,gene with protein product,3p21.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23913001],114206,ENSG00000157388,530,Q01668,Q01668,HGNC:1391 +GARD:0017592,Orphanet,369939,ORPHA:369939,1,BCAP31,"[6C6-Ag, BAP31, CDM, DXS1357E]",B cell receptor associated protein 31,gene with protein product,Xq28,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24011989],300398,ENSG00000185825,,P51572,P51572,HGNC:16695 +GARD:0017593,Orphanet,369970,ORPHA:369970,1,ADAMTS18,,ADAM metallopeptidase with thrombospondin type 1 motif 18,gene with protein product,16q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23818446],607512,ENSG00000140873,1690,Q8TE60,Q8TE60,HGNC:17110 +GARD:0017594,Orphanet,369992,ORPHA:369992,2,DSP,"[DPI, DPII, KPPS2, PPKS2]",desmoplakin,gene with protein product,6p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26073755],125647,ENSG00000096696,,P15924,P15924,HGNC:3052 +GARD:0017594,Orphanet,369992,ORPHA:369992,2,DSG1,[CDHF4],desmoglein 1,gene with protein product,18q12.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23974871],125670,ENSG00000134760,,Q02413,Q02413,HGNC:3048 +GARD:0017595,Orphanet,369999,ORPHA:369999,1,DSG1,[CDHF4],desmoglein 1,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:15897387],125670,ENSG00000134760,,Q02413,Q02413,HGNC:3048 +GARD:0017596,Orphanet,370002,ORPHA:370002,1,DSG1,[CDHF4],desmoglein 1,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16484817],125670,ENSG00000134760,,Q02413,Q02413,HGNC:3048 +GARD:0017597,Orphanet,370022,ORPHA:370022,1,LAMA1,,laminin subunit alpha 1,gene with protein product,18p11.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25105227],150320,ENSG00000101680,,P25391,P25391,HGNC:6481 +GARD:0017599,Orphanet,370097,ORPHA:370097,1,SLC24A5,"[JSX, OCA6, oculocutaneous albinism 6 (autosomal recessive)]",solute carrier family 24 member 5,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23364476],609802,ENSG00000188467,1049,Q71RS6,Q71RS6,HGNC:20611 +GARD:0017600,Orphanet,370334,ORPHA:370334,4,SMARCA5,"[ISWI, hISWI, hSNF2H]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5",gene with protein product,4q31.21,Part of a fusion gene in,Assessed,[PMID:21113140],603375,ENSG00000153147,,O60264,O60264,HGNC:11101 +GARD:0017600,Orphanet,370334,ORPHA:370334,4,EWSR1,[EWS],EWS RNA binding protein 1,gene with protein product,22q12.2,Part of a fusion gene in,Assessed,[PMID:21113140],133450,ENSG00000182944,,Q01844,Q01844,HGNC:3508 +GARD:0017600,Orphanet,370334,ORPHA:370334,4,FLI1,"[EWSR2, SIC-1]","Fli-1 proto-oncogene, ETS transcription factor",gene with protein product,11q24.3,Part of a fusion gene in,Assessed,"[PMID:11570916, PMID:16517542, PMID:18769338, PMID:9072004]",193067,ENSG00000151702,,Q01543,Q01543,HGNC:3749 +GARD:0017600,Orphanet,370334,ORPHA:370334,4,ERG,"[ETS-related gene, TMPRSS2-ERG prostate cancer specific, erg-3, p55, transcriptional regulator ERG (transforming protein ERG), v-ets erythroblastosis virus E26 oncogene like]",ETS transcription factor ERG,gene with protein product,21q22.2,Part of a fusion gene in,Assessed,[PMID:11823984],165080,ENSG00000157554,,P11308,P11308,HGNC:3446 +GARD:0017601,Orphanet,370348,ORPHA:370348,1,FLI1,"[EWSR2, SIC-1]","Fli-1 proto-oncogene, ETS transcription factor",gene with protein product,11q24.3,Part of a fusion gene in,Assessed,"[PMID:7506981, PMID:8644855]",193067,ENSG00000151702,,Q01543,Q01543,HGNC:3749 +GARD:0017602,Orphanet,370921,ORPHA:370921,1,STT3A,"[MGC9042, STT3-A, TMC, dolichyl-diphosphooligosaccharide protein glycotransferase]",STT3 oligosaccharyltransferase complex catalytic subunit A,gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23842455],601134,ENSG00000134910,,P46977,P46977,HGNC:6172 +GARD:0017603,Orphanet,370924,ORPHA:370924,1,STT3B,"[Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B, FLJ90106, SIMP, STT3-B, dolichyl-diphosphooligosaccharide protein glycotransferase, source of immunodominant MHC associated peptides]",STT3 oligosaccharyltransferase complex catalytic subunit B,gene with protein product,3p23,Disease-causing germline mutation(s) in,Assessed,[PMID:23842455],608605,ENSG00000163527,,Q8TCJ2,,HGNC:30611 +GARD:0017604,Orphanet,370943,ORPHA:370943,1,SLC35A3,,solute carrier family 35 member A3,gene with protein product,1p21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24031089],605632,ENSG00000117620,1140,Q9Y2D2,Q9Y2D2,HGNC:11023 +GARD:0017605,Orphanet,370959,ORPHA:370959,6,FKRP,"[FKTR, LGMD2I, MDC1C]",fukutin related protein,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:21397493],606596,ENSG00000181027,,Q9H9S5,,HGNC:17997 +GARD:0017605,Orphanet,370959,ORPHA:370959,6,POMGNT1,"[FLJ20277, LGMD2O, MGAT1.2, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase]","protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21397493],606822,ENSG00000085998,,Q8WZA1,Q8WZA1,HGNC:19139 +GARD:0017605,Orphanet,370959,ORPHA:370959,6,POMK,"[FLJ23356, SGK196, SgK196]",protein O-mannose kinase,gene with protein product,8p11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24925318],615247,ENSG00000185900,,Q9H5K3,Q9H5K3,HGNC:26267 +GARD:0017605,Orphanet,370959,ORPHA:370959,6,GMPPB,"[KIAA1851, mannose-1-phosphate guanyltransferase beta]",GDP-mannose pyrophosphorylase B,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:21397493, PMID:23768512]",615320,ENSG00000173540,,Q9Y5P6,Q9Y5P6,HGNC:22932 +GARD:0017605,Orphanet,370959,ORPHA:370959,6,POMT2,"[Dolichyl-phosphate-mannose--protein mannosyltransferase, LGMD2N]",protein O-mannosyltransferase 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21397493],607439,ENSG00000009830,,Q9UKY4,Q9UKY4,HGNC:19743 +GARD:0017605,Orphanet,370959,ORPHA:370959,6,POMT1,"[LGMD2K, dolichyl-phosphate-mannose-protein mannosyltransferase]",protein O-mannosyltransferase 1,gene with protein product,9q34.13,Disease-causing germline mutation(s) in,Assessed,[PMID:21397493],607423,ENSG00000130714,,Q9Y6A1,Q9Y6A1,HGNC:9202 +GARD:0017606,Orphanet,370968,ORPHA:370968,5,FKRP,"[FKTR, LGMD2I, MDC1C]",fukutin related protein,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:21397493],606596,ENSG00000181027,,Q9H9S5,,HGNC:17997 +GARD:0017606,Orphanet,370968,ORPHA:370968,5,GMPPB,"[KIAA1851, mannose-1-phosphate guanyltransferase beta]",GDP-mannose pyrophosphorylase B,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:21397493, PMID:23768512]",615320,ENSG00000173540,,Q9Y5P6,Q9Y5P6,HGNC:22932 +GARD:0017606,Orphanet,370968,ORPHA:370968,5,POMT2,"[Dolichyl-phosphate-mannose--protein mannosyltransferase, LGMD2N]",protein O-mannosyltransferase 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21397493],607439,ENSG00000009830,,Q9UKY4,Q9UKY4,HGNC:19743 +GARD:0017606,Orphanet,370968,ORPHA:370968,5,POMT1,"[LGMD2K, dolichyl-phosphate-mannose-protein mannosyltransferase]",protein O-mannosyltransferase 1,gene with protein product,9q34.13,Disease-causing germline mutation(s) in,Assessed,[PMID:21397493],607423,ENSG00000130714,,Q9Y6A1,Q9Y6A1,HGNC:9202 +GARD:0017606,Orphanet,370968,ORPHA:370968,5,LARGE1,"[KIAA0609, like-acetylglucosaminyltransferase]",LARGE xylosyl- and glucuronyltransferase 1,gene with protein product,22q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21397493],603590,ENSG00000133424,,O95461,O95461,HGNC:6511 +GARD:0017607,Orphanet,370980,ORPHA:370980,4,FKRP,"[FKTR, LGMD2I, MDC1C]",fukutin related protein,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:21397493],606596,ENSG00000181027,,Q9H9S5,,HGNC:17997 +GARD:0017607,Orphanet,370980,ORPHA:370980,4,CRPPA,"[4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis), D-ribitol-5-phosphate cytidylyltransferase, IspD, Nip, Notch1-induced protein, hCG_1745121, notch1-induced protein]",CDP-L-ribitol pyrophosphorylase A,gene with protein product,7p21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23288328],614631,ENSG00000214960,,A4D126,,HGNC:37276 +GARD:0017607,Orphanet,370980,ORPHA:370980,4,POMT1,"[LGMD2K, dolichyl-phosphate-mannose-protein mannosyltransferase]",protein O-mannosyltransferase 1,gene with protein product,9q34.13,Disease-causing germline mutation(s) in,Assessed,[PMID:21397493],607423,ENSG00000130714,,Q9Y6A1,Q9Y6A1,HGNC:9202 +GARD:0017607,Orphanet,370980,ORPHA:370980,4,FKTN,[LGMD2M],fukutin,gene with protein product,9q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21397493],607440,ENSG00000106692,,O75072,,HGNC:3622 +GARD:0017608,Orphanet,370997,ORPHA:370997,1,DAG1,"[156DAG, A3a, AGRNR, DAG, alpha-dystroglycan, beta-dystroglycan, dystrophin-associated glycoprotein-1]",dystroglycan 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:24052401],128239,ENSG00000173402,,Q14118,Q14118,HGNC:2666 +GARD:0017609,Orphanet,371364,ORPHA:371364,2,NALCN,"[CanIon, bA430M15.1]","sodium leak channel, non-selective",gene with protein product,13q32.3-q33.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:23749988, PMID:24075186]",611549,ENSG00000102452,750,Q8IZF0,Q8IZF0,HGNC:19082 +GARD:0017609,Orphanet,371364,ORPHA:371364,2,UNC80,"[FLJ33496, KIAA1843, UNC-80]","unc-80 homolog, NALCN channel complex subunit",gene with protein product,2q34,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26545877, PMID:26708751, PMID:26708753]",612636,ENSG00000144406,,Q8N2C7,Q8N2C7,HGNC:26582 +GARD:0017610,Orphanet,371428,ORPHA:371428,2,MMP14,"[MT1-MMP, Membrane type 1 metalloprotease, membrane type 1 metalloprotease, membrane type 1-matrix metalloproteinase]",matrix metallopeptidase 14,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22922033],600754,ENSG00000157227,1638,P50281,P50281,HGNC:7160 +GARD:0017610,Orphanet,371428,ORPHA:371428,2,MMP2,[TBE-1],matrix metallopeptidase 2,gene with protein product,16q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22922033],120360,ENSG00000087245,1629,P08253,P08253,HGNC:7166 +GARD:0017611,Orphanet,391307,ORPHA:391307,1,TTI2,[FLJ23263],TELO2 interacting protein 2,gene with protein product,8p12,Disease-causing germline mutation(s) in,Assessed,[PMID:23956177],614426,ENSG00000129696,,Q6NXR4,,HGNC:26262 +GARD:0017612,Orphanet,391311,ORPHA:391311,1,STAT1,"[ISGF-3, STAT91, transcription factor ISGF-3 components p91/p84]",signal transducer and activator of transcription 1,gene with protein product,2q32.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:23403048, PMID:23534974, PMID:23541320]",600555,ENSG00000115415,,P42224,P42224,HGNC:11362 +GARD:0017613,Orphanet,391320,ORPHA:391320,1,F5,,coagulation factor V,gene with protein product,1q24.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23979162],612309,ENSG00000198734,2606,P12259,P12259,HGNC:3542 +GARD:0017614,Orphanet,391330,ORPHA:391330,1,PLS3,[T-plastin],plastin 3,gene with protein product,Xq23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24088043],300131,ENSG00000102024,,P13797,,HGNC:9091 +GARD:0017615,Orphanet,391348,ORPHA:391348,1,SFXN4,[SLC56A4],sideroflexin 4,gene with protein product,10q26.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24119684],615564,ENSG00000183605,,Q6P4A7,,HGNC:16088 +GARD:0017616,Orphanet,391351,ORPHA:391351,1,SURF1,"[SHY1, surfeit locus protein 1]",SURF1 cytochrome c oxidase assembly factor,gene with protein product,9q34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24027061],185620,ENSG00000148290,,Q15526,Q15526,HGNC:11474 +GARD:0017617,Orphanet,391376,ORPHA:391376,1,ASNS,,asparagine synthetase (glutamine-hydrolyzing),gene with protein product,7q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24139043],108370,ENSG00000070669,,P08243,P08243,HGNC:753 +GARD:0017618,Orphanet,391389,ORPHA:391389,1,TRPA1,,transient receptor potential cation channel subfamily A member 1,gene with protein product,8q21.11,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20547126],604775,ENSG00000104321,485,O75762,O75762,HGNC:497 +GARD:0017619,Orphanet,391392,ORPHA:391392,1,SCN11A,"[NaN, Nav1.9, SNS-2]",sodium voltage-gated channel alpha subunit 11,gene with protein product,3p22.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24207120],604385,ENSG00000168356,586,Q9UI33,Q9UI33,HGNC:10583 +GARD:0017620,Orphanet,391408,ORPHA:391408,2,PPP1R15B,[FLJ14744],protein phosphatase 1 regulatory subunit 15B,gene with protein product,1q32.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26159176, PMID:26307080]",613257,ENSG00000158615,,Q5SWA1,Q5SWA1,HGNC:14951 +GARD:0017620,Orphanet,391408,ORPHA:391408,2,TRMT10A,"[MGC27034, TRM10]",tRNA methyltransferase 10A,gene with protein product,4q23,Disease-causing germline mutation(s) in,Assessed,[PMID:24204302],616013,ENSG00000145331,,Q8TBZ6,Q8TBZ6,HGNC:28403 +GARD:0017621,Orphanet,391411,ORPHA:391411,3,PODXL,"[Gp200, PC, PCLP, PDX, PODXL1, gp135]",podocalyxin like,gene with protein product,7q32.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26864383],602632,ENSG00000128567,,O00592,O00592,HGNC:9171 +GARD:0017621,Orphanet,391411,ORPHA:391411,3,SYNJ1,"[INPP5G, PARK20, inositol polyphosphate-5-phosphatase G, phosphoinositide 5-phosphatase, synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1]",synaptojanin 1,gene with protein product,21q22.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:23804563, PMID:23804577]",604297,ENSG00000159082,1461,O43426,O43426,HGNC:11503 +GARD:0017621,Orphanet,391411,ORPHA:391411,3,DNAJC6,"[KIAA0473, PARK19, auxilin]",DnaJ heat shock protein family (Hsp40) member C6,gene with protein product,1p31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:22563501, PMID:23211418]",608375,ENSG00000116675,,O75061,O75061,HGNC:15469 +GARD:0017622,Orphanet,391428,ORPHA:391428,1,HSD17B10,"[17b-HSD10, AB-binding alcohol dehydrogenase, ABAD, CAMR, ERAB, MHBD, MRPP2, SDR5C1, mitochondrial RNase P subunit 2, short chain dehydrogenase/reductase family 5C, member 1, type 10 17b-HSD, type 10 17beta-hydroxysteroid dehydrogenase]",hydroxysteroid 17-beta dehydrogenase 10,gene with protein product,Xp11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:22127393],300256,ENSG00000072506,,Q99714,Q99714,HGNC:4800 +GARD:0017623,Orphanet,391457,ORPHA:391457,1,HSD17B10,"[17b-HSD10, AB-binding alcohol dehydrogenase, ABAD, CAMR, ERAB, MHBD, MRPP2, SDR5C1, mitochondrial RNase P subunit 2, short chain dehydrogenase/reductase family 5C, member 1, type 10 17b-HSD, type 10 17beta-hydroxysteroid dehydrogenase]",hydroxysteroid 17-beta dehydrogenase 10,gene with protein product,Xp11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:22127393],300256,ENSG00000072506,,Q99714,Q99714,HGNC:4800 +GARD:0017624,Orphanet,391641,ORPHA:391641,1,MYCN,"[MYCNOT, N-myc, bHLHe37]","MYCN proto-oncogene, bHLH transcription factor",gene with protein product,2p24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15821734, PMID:18470948, PMID:20301770]",164840,ENSG00000134323,,P04198,P04198,HGNC:7559 +GARD:0017625,Orphanet,391646,ORPHA:391646,1,MIR17HG,"[FLJ14178, LINC00048, MIHG1, MIRH1, NCRNA00048, long intergenic non-protein coding RNA 48, miR-17-92, non-protein coding RNA 48]",miR-17-92a-1 cluster host gene,Non-coding RNA,13q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21892160],609415,ENSG00000215417,,Q75NE6,,HGNC:23564 +GARD:0017626,Orphanet,394529,ORPHA:394529,4,ETFDH,[ETFQO],electron transfer flavoprotein dehydrogenase,gene with protein product,4q32.1,Disease-causing germline mutation(s) in,Assessed,,231675,ENSG00000171503,,Q16134,Q16134,HGNC:3483 +GARD:0017626,Orphanet,394529,ORPHA:394529,4,ETFA,"[EMA, GA2, MADD, glutaric aciduria II]",electron transfer flavoprotein subunit alpha,gene with protein product,15q24.2-q24.3,Disease-causing germline mutation(s) in,Assessed,,608053,ENSG00000140374,,P13804,P13804,HGNC:3481 +GARD:0017626,Orphanet,394529,ORPHA:394529,4,FLAD1,"[FAD1, PP591]",flavin adenine dinucleotide synthetase 1,gene with protein product,1q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27259049],610595,ENSG00000160688,,Q8NFF5,Q8NFF5,HGNC:24671 +GARD:0017626,Orphanet,394529,ORPHA:394529,4,ETFB,,electron transfer flavoprotein subunit beta,gene with protein product,19q13.41,Disease-causing germline mutation(s) in,Assessed,,130410,ENSG00000105379,,P38117,P38117,HGNC:3482 +GARD:0017627,Orphanet,394532,ORPHA:394532,5,ETFDH,[ETFQO],electron transfer flavoprotein dehydrogenase,gene with protein product,4q32.1,Disease-causing germline mutation(s) in,Assessed,,231675,ENSG00000171503,,Q16134,Q16134,HGNC:3483 +GARD:0017627,Orphanet,394532,ORPHA:394532,5,SLC25A32,[MFTC],solute carrier family 25 member 32,gene with protein product,8q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:26933868, PMID:28443623]",138480,ENSG00000164933,1083,Q9H2D1,Q9H2D1,HGNC:29683 +GARD:0017627,Orphanet,394532,ORPHA:394532,5,ETFA,"[EMA, GA2, MADD, glutaric aciduria II]",electron transfer flavoprotein subunit alpha,gene with protein product,15q24.2-q24.3,Disease-causing germline mutation(s) in,Assessed,,608053,ENSG00000140374,,P13804,P13804,HGNC:3481 +GARD:0017627,Orphanet,394532,ORPHA:394532,5,FLAD1,"[FAD1, PP591]",flavin adenine dinucleotide synthetase 1,gene with protein product,1q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28433476],610595,ENSG00000160688,,Q8NFF5,Q8NFF5,HGNC:24671 +GARD:0017627,Orphanet,394532,ORPHA:394532,5,ETFB,,electron transfer flavoprotein subunit beta,gene with protein product,19q13.41,Disease-causing germline mutation(s) in,Assessed,,130410,ENSG00000105379,,P38117,P38117,HGNC:3482 +GARD:0017628,Orphanet,397590,ORPHA:397590,4,PLAG1,[ZNF912],PLAG1 zinc finger,gene with protein product,8q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28796236],603026,ENSG00000181690,,Q6DJT9,,HGNC:9045 +GARD:0017628,Orphanet,397590,ORPHA:397590,4,IGF2,"[FLJ44734, IGF-II, preptin, somatomedin A]",insulin like growth factor 2,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:26154720],147470,ENSG00000167244,,P01344,P01344,HGNC:5466 +GARD:0017628,Orphanet,397590,ORPHA:397590,4,CDKN1C,"[KIP2, P57]",cyclin dependent kinase inhibitor 1C,gene with protein product,11p15.4,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24065356],600856,ENSG00000129757,,P49918,P49918,HGNC:1786 +GARD:0017628,Orphanet,397590,ORPHA:397590,4,HMGA2,"[BABL, LIPO]",high mobility group AT-hook 2,gene with protein product,12q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29655892],600698,ENSG00000149948,,P52926,P52926,HGNC:5009 +GARD:0017629,Orphanet,397593,ORPHA:397593,2,NFS1,"[IscS, NifS]",NFS1 cysteine desulfurase,gene with protein product,20q11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:24498631],603485,ENSG00000244005,,Q9Y697,Q9Y697,HGNC:15910 +GARD:0017629,Orphanet,397593,ORPHA:397593,2,LYRM4,"[CGI-203, ISD11]",LYR motif containing 4,gene with protein product,6p25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23814038],613311,ENSG00000214113,,Q9HD34,Q9HD34,HGNC:21365 +GARD:0017630,Orphanet,397612,ORPHA:397612,1,KPTN,"[2E4, KICS4]","kaptin, actin binding protein",gene with protein product,19q13.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24239382],615620,ENSG00000118162,,Q9Y664,,HGNC:6404 +GARD:0017631,Orphanet,397615,ORPHA:397615,1,CEP19,[MGC14126],centrosomal protein 19,gene with protein product,3q29,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24268657],615586,ENSG00000174007,,Q96LK0,Q96LK0,HGNC:28209 +GARD:0017632,Orphanet,397618,ORPHA:397618,1,SLC38A8,,solute carrier family 38 member 8,gene with protein product,16q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24290379],615585,ENSG00000166558,1176,A6NNN8,,HGNC:32434 +GARD:0017633,Orphanet,397623,ORPHA:397623,1,GSC,,goosecoid homeobox,gene with protein product,14q32.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24290375],138890,ENSG00000133937,,P56915,,HGNC:4612 +GARD:0017634,Orphanet,397685,ORPHA:397685,1,PRLR,,prolactin receptor,gene with protein product,5p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24195502],176761,ENSG00000113494,1721,P16471,P16471,HGNC:9446 +GARD:0017635,Orphanet,397692,ORPHA:397692,3,ACD,"[POT1 and TIN2 organizing protein, Pip1, Ptop, TIN2 interacting protein 1, Tint1, Tpp1]",ACD shelterin complex subunit and telomerase recruitment factor,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25205116],609377,ENSG00000102977,,Q96AP0,Q96AP0,HGNC:25070 +GARD:0017635,Orphanet,397692,ORPHA:397692,3,MPL,"[CD110, THPOR, TPOR]","MPL proto-oncogene, thrombopoietin receptor",gene with protein product,1p34.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22180433],159530,ENSG00000117400,1722,P40238,P40238,HGNC:7217 +GARD:0017635,Orphanet,397692,ORPHA:397692,3,THPO,"[MPL ligand, MPLLG, TPO, c-mpl ligand, megakaryocyte colony-stimulating factor, megakaryocyte growth and development factor, megakaryocyte stimulating factor, myeloproliferative leukemia virus oncogene ligand, prepro-thrombopoietin]",thrombopoietin,gene with protein product,3q27.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24085763],600044,ENSG00000090534,,P40225,P40225,HGNC:11795 +GARD:0017636,Orphanet,397709,ORPHA:397709,1,SNX14,[RGS-PX2],sorting nexin 14,gene with protein product,6q14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25439728],616105,ENSG00000135317,,Q9Y5W7,,HGNC:14977 +GARD:0017637,Orphanet,397715,ORPHA:397715,2,KIAA0586,"[JBTS23, Talpid3]",KIAA0586,gene with protein product,14q23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26386044],610178,ENSG00000100578,,Q9BVV6,,HGNC:19960 +GARD:0017637,Orphanet,397715,ORPHA:397715,2,CSPP1,"[CSPP, CSPP-L, FLJ22490, JBTS21]",centrosome and spindle pole associated protein 1,gene with protein product,8q13.1-q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24360808],611654,ENSG00000104218,,Q1MSJ5,,HGNC:26193 +GARD:0017638,Orphanet,397735,ORPHA:397735,1,MARS1,"[CMT2U, MetRS, SPG70, methionine tRNA ligase 1, cytoplasmic]",methionyl-tRNA synthetase 1,gene with protein product,12q13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23729695],156560,ENSG00000166986,,P56192,P56192,HGNC:6898 +GARD:0017639,Orphanet,397744,ORPHA:397744,1,MYH14,"[FLJ13881, KIAA2034, MHC16, MYH17]",myosin heavy chain 14,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21480433],608568,ENSG00000105357,,Q7Z406,Q7Z406,HGNC:23212 +GARD:0017640,Orphanet,397758,ORPHA:397758,1,ITM2B,"[BRI, BRI2, BRICD2B, BRICHOS domain containing 2B, E25B, E3-16]",integral membrane protein 2B,gene with protein product,13q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24026677],603904,ENSG00000136156,,Q9Y287,Q9Y287,HGNC:6174 +GARD:0017641,Orphanet,397787,ORPHA:397787,1,IKBKB,"[IKK-beta, IKK2, IKKB, NFKBIKB]",inhibitor of nuclear factor kappa B kinase subunit beta,gene with protein product,8p11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24369075],603258,ENSG00000104365,2039,O14920,O14920,HGNC:5960 +GARD:0017642,Orphanet,397927,ORPHA:397927,1,TBXT,,T-box transcription factor T,gene with protein product,6q27,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24253444],601397,ENSG00000164458,,O15178,,HGNC:11515 +GARD:0017643,Orphanet,397937,ORPHA:397937,1,RBCK1,"[HOIL1, Heme-oxidized IRP2 ubiquitin ligase 1, RBCK2, RNF54, UBCE7IP3, XAP4, ZRANB4, heme-oxidized IRP2 ubiquitin ligase 1]",RANBP2-type and C3HC4-type zinc finger containing 1,gene with protein product,20p13,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23674175, PMID:23798481]",610924,ENSG00000125826,,Q9BYM8,Q9BYM8,HGNC:15864 +GARD:0017644,Orphanet,397946,ORPHA:397946,1,KIF1C,"[SPAX2, SPG58]",kinesin family member 1C,gene with protein product,17p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:24319291, PMID:24482476]",603060,ENSG00000129250,,O43896,O43896,HGNC:6317 +GARD:0017645,Orphanet,397951,ORPHA:397951,1,TAF2,"[CIF150, TAFII150]",TATA-box binding protein associated factor 2,gene with protein product,8q24.12,Disease-causing germline mutation(s) in,Assessed,[PMID:24084144],604912,ENSG00000064313,,Q6P1X5,Q6P1X5,HGNC:11536 +GARD:0017646,Orphanet,397959,ORPHA:397959,1,TRAC,,T-cell receptor alpha constant,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21206088],186880,ENSG00000277734,,P01848,P01848,HGNC:12029 +GARD:0017647,Orphanet,397964,ORPHA:397964,1,MALT1,"[MALT1 protease, PCASP1, paracaspase 1]",MALT1 paracaspase,gene with protein product,18q21.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:23727036, PMID:24332264]",604860,ENSG00000172175,2983,Q9UDY8,Q9UDY8,HGNC:6819 +GARD:0017650,Orphanet,398189,ORPHA:398189,1,CYP26C1,,cytochrome P450 family 26 subfamily C member 1,gene with protein product,10q23.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23161670],608428,ENSG00000187553,1368,Q6V0L0,Q6V0L0,HGNC:20577 +GARD:0017651,Orphanet,399058,ORPHA:399058,1,CRYAB,[HSPB5],crystallin alpha B,gene with protein product,11q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20171888],123590,ENSG00000109846,,P02511,P02511,HGNC:2389 +GARD:0017653,Orphanet,399096,ORPHA:399096,1,ANO5,[GDD1],anoctamin 5,gene with protein product,11p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22980764],608662,ENSG00000171714,,Q75V66,Q75V66,HGNC:27337 +GARD:0017654,Orphanet,399808,ORPHA:399808,1,NANOS1,"[NOS1, ZC2HC12A]",nanos C2HC-type zinc finger 1,gene with protein product,10q26.11,Disease-causing germline mutation(s) in,Assessed,[PMID:23315541],608226,ENSG00000188613,,Q8WY41,,HGNC:23044 +GARD:0017655,Orphanet,401764,ORPHA:401764,1,ERCC6L2,"[FLJ37706, HEBO, RAD26L]",ERCC excision repair 6 like 2,gene with protein product,9q22.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24507776],615667,ENSG00000182150,,Q5T890,,HGNC:26922 +GARD:0017656,Orphanet,401780,ORPHA:401780,1,ARL6IP1,"[AIP1, ARMER, KIAA0069, SPG61]",ADP ribosylation factor like GTPase 6 interacting protein 1,gene with protein product,16p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24482476],607669,ENSG00000170540,,Q15041,Q15041,HGNC:697 +GARD:0017657,Orphanet,401785,ORPHA:401785,1,ERLIN1,"[Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9, Erlin-1, KE04, SPG62]",ER lipid raft associated 1,gene with protein product,10q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:24482476],611604,ENSG00000107566,,O75477,O75477,HGNC:16947 +GARD:0017658,Orphanet,401805,ORPHA:401805,1,AMPD2,"[AMPD isoform L, SPG63]",adenosine monophosphate deaminase 2,gene with protein product,1p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24482476],102771,ENSG00000116337,,Q01433,Q01433,HGNC:469 +GARD:0017659,Orphanet,401810,ORPHA:401810,1,ENTPD1,"[ATPDase, NTPDase-1, SPG64]",ectonucleoside triphosphate diphosphohydrolase 1,gene with protein product,10q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24482476],601752,ENSG00000138185,2888,P49961,P49961,HGNC:3363 +GARD:0017660,Orphanet,401849,ORPHA:401849,1,REEP2,"[SGC32445, SPG72, Yip2d]",receptor accessory protein 2,gene with protein product,5q31.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24388663],609347,ENSG00000132563,,Q9BRK0,Q9BRK0,HGNC:17975 +GARD:0017661,Orphanet,401869,ORPHA:401869,1,NFU1,"[CGI-33, NIFUC, NifU]",NFU1 iron-sulfur cluster scaffold,gene with protein product,2p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:24334290, PMID:24777537]",608100,ENSG00000169599,,Q9UMS0,,HGNC:16287 +GARD:0017662,Orphanet,401874,ORPHA:401874,1,BOLA3,,bolA family member 3,gene with protein product,2p13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:24334290, PMID:24777537]",613183,ENSG00000163170,,Q53S33,Q53S33,HGNC:24415 +GARD:0017664,Orphanet,401945,ORPHA:401945,1,GUCY1A1,[GC-SA3],guanylate cyclase 1 soluble subunit alpha 1,gene with protein product,4q32.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24581742],139396,ENSG00000164116,1288,Q02108,Q02108,HGNC:4685 +GARD:0017666,Orphanet,401973,ORPHA:401973,1,EBP,"[3-beta-hydroxysteroid-delta-8,delta-7-isomerase, CHO2, CPX, CPXD, Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome), sterol 8-isomerase]",EBP cholestenol delta-isomerase,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:24459067],300205,ENSG00000147155,,Q15125,Q15125,HGNC:3133 +GARD:0017667,Orphanet,401979,ORPHA:401979,1,PAM16,"[Magmas, TIMM16, Tim16, mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction]",presequence translocase associated motor 16,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24786642],614336,ENSG00000217930,,Q9Y3D7,Q9Y3D7,HGNC:29679 +GARD:0017668,Orphanet,401986,ORPHA:401986,1,NFIA,"[KIAA1439, NFI-L]",nuclear factor I A,gene with protein product,1p31.3,Role in the phenotype of,Assessed,[PMID:24462883],600727,ENSG00000162599,,Q12857,Q12857,HGNC:7784 +GARD:0017669,Orphanet,402003,ORPHA:402003,1,KRT6C,,keratin 6C,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:19609311, PMID:21801157]",612315,ENSG00000170465,,P48668,P48668,HGNC:20406 +GARD:0017670,Orphanet,402075,ORPHA:402075,4,NOTCH1,,notch receptor 1,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:16025100],190198,ENSG00000148400,2861,P46531,P46531,HGNC:7881 +GARD:0017670,Orphanet,402075,ORPHA:402075,4,SMAD6,[HsT17432],SMAD family member 6,gene with protein product,15q22.31,Disease-causing germline mutation(s) in,Assessed,[PMID:22275001],602931,ENSG00000137834,,O43541,O43541,HGNC:6772 +GARD:0017670,Orphanet,402075,ORPHA:402075,4,GATA5,"[GATAS, bB379O24.1]",GATA binding protein 5,gene with protein product,20q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24638895],611496,ENSG00000130700,,Q9BWX5,Q9BWX5,HGNC:15802 +GARD:0017670,Orphanet,402075,ORPHA:402075,4,NKX2-5,"[CSX1, NKX2.5, NKX4-1, tinman (Drosophila) homolog, tinman paralog (Drosophila)]",NK2 homeobox 5,gene with protein product,5q34,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25438918],600584,ENSG00000183072,,P52952,P52952,HGNC:2488 +GARD:0017671,Orphanet,402082,ORPHA:402082,2,POLG,"[POLG1, POLGA]","DNA polymerase gamma, catalytic subunit",gene with protein product,15q26.1,Candidate gene tested in,Assessed,[PMID:26942291],174763,ENSG00000140521,,P54098,P54098,HGNC:9179 +GARD:0017671,Orphanet,402082,ORPHA:402082,2,PRICKLE2,[DKFZp686D143],prickle planar cell polarity protein 2,gene with protein product,3p14.1,Candidate gene tested in,Not yet assessed,"[PMID:21276947, PMID:26942291]",608501,ENSG00000163637,,Q7Z3G6,,HGNC:20340 +GARD:0017672,Orphanet,404437,ORPHA:404437,1,QARS1,[glutamine tRNA ligase],glutaminyl-tRNA synthetase 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24656866],603727,ENSG00000172053,,P47897,P47897,HGNC:9751 +GARD:0017673,Orphanet,404440,ORPHA:404440,1,SETD5,[FLJ10707],SET domain containing 5,gene with protein product,3p25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24680889],615743,ENSG00000168137,,Q9C0A6,,HGNC:25566 +GARD:0017674,Orphanet,404443,ORPHA:404443,1,DNMT3A,,DNA methyltransferase 3 alpha,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:24614070, PMID:27701732]",602769,ENSG00000119772,2750,Q9Y6K1,Q9Y6K1,HGNC:2978 +GARD:0017675,Orphanet,404466,ORPHA:404466,3,ZP3,"[ZP3-372, ZP3-424, ZPC]",zona pellucida glycoprotein 3,gene with protein product,7q11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28886340],182889,ENSG00000188372,,P21754,P21754,HGNC:13189 +GARD:0017675,Orphanet,404466,ORPHA:404466,3,ZP2,[ZPA],zona pellucida glycoprotein 2,gene with protein product,16p12.3-p12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28646452],182888,ENSG00000103310,,Q05996,Q05996,HGNC:13188 +GARD:0017675,Orphanet,404466,ORPHA:404466,3,ZP1,,zona pellucida glycoprotein 1,gene with protein product,11q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24670168],195000,ENSG00000149506,,P60852,P60852,HGNC:13187 +GARD:0017676,Orphanet,404476,ORPHA:404476,1,DICER1,"[Dicer, HERNA, K12H4.8-LIKE, KIAA0928, dicer 1, double-stranded RNA-specific endoribonuclease]","dicer 1, ribonuclease III",gene with protein product,14q32.13,Disease-causing somatic mutation(s) in,Assessed,[PMID:24676357],606241,ENSG00000100697,,Q9UPY3,Q9UPY3,HGNC:17098 +GARD:0017677,Orphanet,404493,ORPHA:404493,1,TDP2,,tyrosyl-DNA phosphodiesterase 2,gene with protein product,6p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24658003],605764,ENSG00000111802,,O95551,O95551,HGNC:17768 +GARD:0017678,Orphanet,404499,ORPHA:404499,1,RUBCN,"[rubicon, rundataxin]",rubicon autophagy regulator,gene with protein product,3q29,Disease-causing germline mutation(s) in,Assessed,[PMID:23728897],613516,ENSG00000145016,,Q92622,Q92622,HGNC:28991 +GARD:0017679,Orphanet,404546,ORPHA:404546,1,IL36RN,"[FIL1, FIL1(DELTA), FIL1D, IL-1 related protein 3, IL-1F5, IL1HY1, IL1L1, IL1RP3, IL36RA, MGC29840, family of interleukin 1-delta, interleukin-1 HY1, interleukin-1 receptor antagonist homolog 1]",interleukin 36 receptor antagonist,gene with protein product,2q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24131530],605507,ENSG00000136695,,Q9UBH0,Q9UBH0,HGNC:15561 +GARD:0017680,Orphanet,411493,ORPHA:411493,1,CLP1,"[ATP/GTPbinding protein, HEAB, hClp1, polyribonucleotide 5'-hydroxyl-kinase]",cleavage factor polyribonucleotide kinase subunit 1,gene with protein product,11q12.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:24766809, PMID:24766810]",608757,ENSG00000172409,,Q92989,Q92989,HGNC:16999 +GARD:0017681,Orphanet,411536,ORPHA:411536,1,PRPS1,"[CMTX5, DFNX1, PRS I, ribose-phosphate diphosphokinase 1]",phosphoribosyl pyrophosphate synthetase 1,gene with protein product,Xq22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301734],311850,ENSG00000147224,,P60891,P60891,HGNC:9462 +GARD:0017682,Orphanet,411543,ORPHA:411543,1,PRPS1,"[CMTX5, DFNX1, PRS I, ribose-phosphate diphosphokinase 1]",phosphoribosyl pyrophosphate synthetase 1,gene with protein product,Xq22.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301734],311850,ENSG00000147224,,P60891,P60891,HGNC:9462 +GARD:0017683,Orphanet,411590,ORPHA:411590,1,WFS1,"[DIDMOAD, WFS]",wolframin ER transmembrane glycoprotein,gene with protein product,4p16.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20069065, PMID:20301750]",606201,ENSG00000109501,,O76024,O76024,HGNC:12762 +GARD:0017684,Orphanet,411602,ORPHA:411602,7,LRRK2,"[DKFZp434H2111, FLJ45829, RIPK7, ROCO2, dardarin]",leucine rich repeat kinase 2,gene with protein product,12q12,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:22166458],609007,ENSG00000188906,2059,Q5S007,Q5S007,HGNC:18618 +GARD:0017684,Orphanet,411602,ORPHA:411602,7,DNAJC13,"[KIAA0678, RME8]",DnaJ heat shock protein family (Hsp40) member C13,gene with protein product,3q22.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24218364],614334,ENSG00000138246,,O75165,O75165,HGNC:30343 +GARD:0017684,Orphanet,411602,ORPHA:411602,7,EIF4G1,"[PARK18, p220]",eukaryotic translation initiation factor 4 gamma 1,gene with protein product,3q27.1,Candidate gene tested in,Not yet assessed,,600495,ENSG00000114867,,Q04637,Q04637,HGNC:3296 +GARD:0017684,Orphanet,411602,ORPHA:411602,7,GIGYF2,"[GYF domain containing 2, GYF2, KIAA0642]",GRB10 interacting GYF protein 2,gene with protein product,2q37.1,Candidate gene tested in,Not yet assessed,,612003,ENSG00000204120,,Q6Y7W6,,HGNC:11960 +GARD:0017684,Orphanet,411602,ORPHA:411602,7,VPS35,"[FLJ10752, MEM3, PARK17]",VPS35 retromer complex component,gene with protein product,16q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22166458],601501,ENSG00000069329,,Q96QK1,Q96QK1,HGNC:13487 +GARD:0017684,Orphanet,411602,ORPHA:411602,7,SNCA,"[α-synuclein, NACP, PD1, a-synuclein, alpha-synuclein, non A4 component of amyloid precursor]",synuclein alpha,gene with protein product,4q22.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:17489854, PMID:18704525, PMID:20013014, PMID:24768741]",163890,ENSG00000145335,,P37840,P37840,HGNC:11138 +GARD:0017684,Orphanet,411602,ORPHA:411602,7,GBA,"[GBA1, glucocerebrosidase]",glucosylceramidase beta,gene with protein product,1q22,Major susceptibility factor in,Assessed,[PMID:18987351],606463,ENSG00000177628,2978,P04062,P04062,HGNC:4177 +GARD:0017685,Orphanet,411634,ORPHA:411634,1,CTNS,"[CTNS-LSB, PQLC4, SLC66A4]","cystinosin, lysosomal cystine transporter",gene with protein product,17p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301574],606272,ENSG00000040531,3163,O60931,O60931,HGNC:2518 +GARD:0017686,Orphanet,411712,ORPHA:411712,1,SLC52A1,"[FLJ10060, GPCR42, PAR2, RFVT1, Riboflavin transporter 1, hRFT1, riboflavin transporter 1]",solute carrier family 52 member 1,gene with protein product,17p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:17689999, PMID:21089064]",607883,ENSG00000132517,2571,Q9NWF4,Q9NWF4,HGNC:30225 +GARD:0017687,Orphanet,411986,ORPHA:411986,1,DOCK7,"[KIAA1771, ZIR2]",dedicator of cytokinesis 7,gene with protein product,1p31.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24814191],615730,ENSG00000116641,,Q96N67,Q96N67,HGNC:19190 +GARD:0017688,Orphanet,412022,ORPHA:412022,1,ASPH,"[BAH, CASQ2BP1, HAAH, JCTN, humbug, junctate, junctin]",aspartate beta-hydroxylase,gene with protein product,8q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24768550],600582,ENSG00000198363,,Q12797,Q12797,HGNC:757 +GARD:0017689,Orphanet,412057,ORPHA:412057,1,STUB1,"[CHIP, HSPABP2, NY-CO-7, SDCCAG7, UBOX1]",STIP1 homology and U-box containing protein 1,gene with protein product,16p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:24113144, PMID:24312598, PMID:24742043, PMID:25258038]",607207,ENSG00000103266,,Q9UNE7,Q9UNE7,HGNC:11427 +GARD:0017690,Orphanet,412181,ORPHA:412181,1,DST,"[BP240, BPA, CATX-15, FLJ13425, FLJ21489, FLJ30627, FLJ32235, KIAA0728, MACF2]",dystonin,gene with protein product,6p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22113475],113810,ENSG00000151914,,Q03001,Q03001,HGNC:1090 +GARD:0017691,Orphanet,412189,ORPHA:412189,1,EXPH5,"[SLAC2-B, synaptotagmin-like homologue lacking C2 domains b]",exophilin 5,gene with protein product,11q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23176819],612878,ENSG00000110723,,Q8NEV8,,HGNC:30578 +GARD:0017692,Orphanet,412206,ORPHA:412206,1,PTH1R,,parathyroid hormone 1 receptor,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19061984, PMID:20830195, PMID:23910200]",168468,ENSG00000160801,331,Q03431,Q03431,HGNC:9608 +GARD:0017693,Orphanet,420485,ORPHA:420485,1,ANO3,"[DYT23, GENX-3947, Transmembrane protein 16C (eight membrane-spanning domains), dystonia 23, transmembrane protein 16C (eight membrane-spanning domains)]",anoctamin 3,gene with protein product,11p14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23200863],610110,ENSG00000134343,,Q9BYT9,Q9BYT9,HGNC:14004 +GARD:0017694,Orphanet,420492,ORPHA:420492,1,CIZ1,"[LSFR1, ZNF356]",CDKN1A interacting zinc finger protein 1,gene with protein product,9q34.11,Candidate gene tested in,Not yet assessed,[PMID:22447717],611420,ENSG00000148337,,Q9ULV3,,HGNC:16744 +GARD:0017695,Orphanet,420566,ORPHA:420566,1,RASGRP2,"[CALDAG-GEFI, calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I]",RAS guanyl releasing protein 2,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24958846],605577,ENSG00000068831,,Q7LDG7,Q7LDG7,HGNC:9879 +GARD:0017696,Orphanet,420573,ORPHA:420573,1,CTPS1,"[GATD5, GATD5A]",CTP synthase 1,gene with protein product,1p34.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24870241],123860,ENSG00000171793,,P17812,P17812,HGNC:2519 +GARD:0017697,Orphanet,420686,ORPHA:420686,1,KANK2,[KIAA1518],KN motif and ankyrin repeat domains 2,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24671081],614610,ENSG00000197256,,Q63ZY3,Q63ZY3,HGNC:29300 +GARD:0017698,Orphanet,420702,ORPHA:420702,1,CSF3R,[GCSFR],colony stimulating factor 3 receptor,gene with protein product,1p34.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24753537],138971,ENSG00000119535,1719,Q99062,Q99062,HGNC:2439 +GARD:0017699,Orphanet,420728,ORPHA:420728,1,VARS1,"[valine tRNA ligase 1, cytoplasmic]",valyl-tRNA synthetase 1,gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:24827421, PMID:25058219]",192150,ENSG00000204394,,P26640,P26640,HGNC:12651 +GARD:0017700,Orphanet,420733,ORPHA:420733,1,TARS2,"[FLJ12528, threonine tRNA ligase 2, mitochondrial]","threonyl-tRNA synthetase 2, mitochondrial",gene with protein product,1q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24827421],612805,ENSG00000143374,,Q9BW92,Q9BW92,HGNC:30740 +GARD:0017701,Orphanet,420741,ORPHA:420741,1,RNF168,[FLJ35794],ring finger protein 168,gene with protein product,3q29,Disease-causing germline mutation(s) in,Assessed,"[PMID:19203578, PMID:21394101]",612688,ENSG00000163961,,Q8IYW5,Q8IYW5,HGNC:26661 +GARD:0017702,Orphanet,423384,ORPHA:423384,1,JAGN1,"[FLJ14602, GL009]",jagunal homolog 1,gene with protein product,3p25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25129144],616012,ENSG00000171135,,Q8N5M9,Q8N5M9,HGNC:26926 +GARD:0017703,Orphanet,423454,ORPHA:423454,1,GRHL2,"[BOM, FLJ13782, brother-of-MGR]",grainyhead like transcription factor 2,gene with protein product,8q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25152456],608576,ENSG00000083307,,Q6ISB3,Q6ISB3,HGNC:2799 +GARD:0017704,Orphanet,423461,ORPHA:423461,1,GNPTAB,"[KIAA1208, MGC4170]",N-acetylglucosamine-1-phosphate transferase subunits alpha and beta,gene with protein product,12q23.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18425436],607840,ENSG00000111670,,Q3T906,Q3T906,HGNC:29670 +GARD:0017705,Orphanet,423470,ORPHA:423470,1,GNPTG,"[CAB56184, GlcNAc-phosphotransferase gamma-subunit, c316G12.3]",N-acetylglucosamine-1-phosphate transferase subunit gamma,gene with protein product,16p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19708128, PMID:20034096]",607838,ENSG00000090581,,Q9UJJ9,,HGNC:23026 +GARD:0017706,Orphanet,424027,ORPHA:424027,1,CERS1,"[LAG1, UOG1]",ceramide synthase 1,gene with protein product,19p13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:24782409],606919,ENSG00000223802,2474,P27544,P27544,HGNC:14253 +GARD:0017707,Orphanet,424099,ORPHA:424099,1,MAB21L2,,mab-21 like 2,gene with protein product,4q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24906020],604357,ENSG00000181541,,Q9Y586,Q9Y586,HGNC:6758 +GARD:0017708,Orphanet,424261,ORPHA:424261,1,TOR1AIP1,"[FLJ13142, LAP1, LAP1B, LAP1C, lamina associated polypeptide 1B]",torsin 1A interacting protein 1,gene with protein product,1q25.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24856141],614512,ENSG00000143337,,Q5JTV8,Q5JTV8,HGNC:29456 +GARD:0017710,Orphanet,431149,ORPHA:431149,1,TNFRSF4,"[ACT35, CD134, OX40]",TNF receptor superfamily member 4,gene with protein product,1p36.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23897980],600315,ENSG00000186827,1873,P43489,P43489,HGNC:11918 +GARD:0017711,Orphanet,431166,ORPHA:431166,2,IFNAR2,"[IFNalpha/beta receptor subunit 2, interferon alpha/beta receptor 2, type I interferon receptor 2]",interferon alpha and beta receptor subunit 2,gene with protein product,21q22.11,Major susceptibility factor in,Assessed,[PMID:26424569],602376,ENSG00000159110,1724,P48551,P48551,HGNC:5433 +GARD:0017711,Orphanet,431166,ORPHA:431166,2,STAT2,[STAT113],signal transducer and activator of transcription 2,gene with protein product,12q13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23391734],600556,ENSG00000170581,,P52630,P52630,HGNC:11363 +GARD:0017712,Orphanet,431329,ORPHA:431329,1,TFG,"[FLJ36137, SPG57, TF6]",trafficking from ER to golgi regulator,gene with protein product,3q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23479643],602498,ENSG00000114354,,Q92734,Q92734,HGNC:11758 +GARD:0017714,Orphanet,435387,ORPHA:435387,1,VCP,"[CDC48, IBMPFD, TERA, p97, transitional endoplasmic reticulum ATPase]",valosin containing protein,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25125609],601023,ENSG00000165280,,P55072,P55072,HGNC:12666 +GARD:0017715,Orphanet,435438,ORPHA:435438,1,KCNC1,[Kv3.1],potassium voltage-gated channel subfamily C member 1,gene with protein product,11p15.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25401298],176258,ENSG00000129159,548,P48547,P48547,HGNC:6233 +GARD:0017716,Orphanet,435628,ORPHA:435628,1,KCNJ6,"[BIR1, G protein-activated inward rectifier potassium channel 2, GIRK2, KATP2, Kir3.2, hiGIRK2]",potassium inwardly rectifying channel subfamily J member 6,gene with protein product,21q22.13,Disease-causing germline mutation(s) in,Assessed,[PMID:25620207],600877,ENSG00000157542,435,P48051,P48051,HGNC:6267 +GARD:0017717,Orphanet,435804,ORPHA:435804,1,ACAN,"[CSPGCP, aggrecan proteoglycan]",aggrecan,gene with protein product,15q26.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24762113],155760,ENSG00000157766,,P16112,P16112,HGNC:319 +GARD:0017718,Orphanet,435845,ORPHA:435845,1,BRAT1,"[BRCA1-associated protein required for ATM activation protein 1, MGC22916]",BRCA1 associated ATM activator 1,gene with protein product,7p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25500575],614506,ENSG00000106009,,Q6PJG6,Q6PJG6,HGNC:21701 +GARD:0017719,Orphanet,435930,ORPHA:435930,1,SIX6,[Six9],SIX homeobox 6,gene with protein product,14q23.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:23167593, PMID:24702266]",606326,ENSG00000184302,,O95475,,HGNC:10892 +GARD:0017720,Orphanet,435934,ORPHA:435934,1,COG2,,component of oligomeric golgi complex 2,gene with protein product,1q42.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24784932],606974,ENSG00000135775,,Q14746,Q14746,HGNC:6546 +GARD:0017721,Orphanet,435938,ORPHA:435938,1,RPL10,"[DXS648, DXS648E, FLJ23544, L10, NOV, QM]",ribosomal protein L10,gene with protein product,Xq28,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25316788],312173,ENSG00000147403,,P27635,P27635,HGNC:10298 +GARD:0017722,Orphanet,435953,ORPHA:435953,1,SPRTN,"[DKFZP547N043, DNA damage-targeting VCP (p97) adaptor, DVC1, Spartan, SprT-like domain at the N terminus]",SprT-like N-terminal domain,gene with protein product,1q42.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25261934],616086,ENSG00000010072,,Q9H040,Q9H040,HGNC:25356 +GARD:0017723,Orphanet,435998,ORPHA:435998,1,COX6A1,,cytochrome c oxidase subunit 6A1,gene with protein product,12q24.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25152455],602072,ENSG00000111775,,P12074,P12074,HGNC:2277 +GARD:0017724,Orphanet,436151,ORPHA:436151,1,SETBP1,"[KIAA0437, SEB]",SET binding protein 1,gene with protein product,18q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25217958],611060,ENSG00000152217,,Q9Y6X0,,HGNC:15573 +GARD:0017725,Orphanet,436166,ORPHA:436166,1,NLRC4,"[CLAN, CLAN1, CLANA, CLANB, CLANC, CLAND, CLR2.1, NOD-like receptor C4, ipaf, nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4]",NLR family CARD domain containing 4,gene with protein product,2p22.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:25217959, PMID:25217960]",606831,ENSG00000091106,1782,Q9NPP4,Q9NPP4,HGNC:16412 +GARD:0017726,Orphanet,436169,ORPHA:436169,1,THBD,"[BDCA-3, CD141, THRM, fetomodulin]",thrombomodulin,gene with protein product,20p11.21,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:25049278, PMID:25564403]",188040,ENSG00000178726,,P07204,P07204,HGNC:11784 +GARD:0017727,Orphanet,436174,ORPHA:436174,1,IARS2,"[FLJ10326, isoleucine tRNA ligase 2, mitochondrial]","isoleucyl-tRNA synthetase 2, mitochondrial",gene with protein product,1q41,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25130867],612801,ENSG00000067704,,Q9NSE4,Q9NSE4,HGNC:29685 +GARD:0017728,Orphanet,436182,ORPHA:436182,2,NSMCE2,"[FLJ32440, MMS21, NSE2, ZMIZ7, zinc finger, MIZ-type containing 7]","NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase",gene with protein product,8q24.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25105364],617246,ENSG00000156831,,Q96MF7,Q96MF7,HGNC:26513 +GARD:0017728,Orphanet,436182,ORPHA:436182,2,XRCC4,"[DNA repair protein XRCC4, X-ray repair, complementing defective, repair in Chinese hamster]",X-ray repair cross complementing 4,gene with protein product,5q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25728776],194363,ENSG00000152422,,Q13426,Q13426,HGNC:12831 +GARD:0017729,Orphanet,436242,ORPHA:436242,1,TNNI3K,[CARK],TNNI3 interacting kinase,gene with protein product,1p31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24925317],613932,ENSG00000116783,2247,Q59H18,Q59H18,HGNC:19661 +GARD:0017730,Orphanet,436245,ORPHA:436245,1,RDH11,"[ARSDR1, MDT1, SDR7C1, androgen-regulated short-chain dehydrogenase/reductase 1, short chain dehydrogenase/reductase family 7C, member 1]",retinol dehydrogenase 11,gene with protein product,14q24.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24916380],607849,ENSG00000072042,,Q8TC12,Q8TC12,HGNC:17964 +GARD:0017731,Orphanet,436252,ORPHA:436252,2,TTC7A,[KIAA1140],tetratricopeptide repeat domain 7A,gene with protein product,2p21,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:24417819, PMID:25174867]",609332,ENSG00000068724,,Q9ULT0,,HGNC:19750 +GARD:0017731,Orphanet,436252,ORPHA:436252,2,PI4KA,"[PI4K-ALPHA, phosphatidylinositol 4-kinase III alpha, phosphatidylinositol 4-kinase IIIa, pi4K230]",phosphatidylinositol 4-kinase alpha,gene with protein product,22q11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:34415310],600286,ENSG00000241973,2148,P42356,P42356,HGNC:8983 +GARD:0017732,Orphanet,437552,ORPHA:437552,1,FCGR3A,"[CD16, CD16a, Fc gamma receptor IIIa]",Fc fragment of IgG receptor IIIa,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23006327],146740,ENSG00000203747,3017,P08637,P08637,HGNC:3619 +GARD:0017733,Orphanet,438075,ORPHA:438075,1,SLC16A1,"[MCT, MCT1]",solute carrier family 16 member 1,gene with protein product,1p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25390740],600682,ENSG00000155380,988,P53985,P53985,HGNC:10922 +GARD:0017734,Orphanet,438114,ORPHA:438114,1,RARS1,"[DALRD1, arginine tRNA ligase 1, cytoplasmic]",arginyl-tRNA synthetase 1,gene with protein product,5q34,Disease-causing germline mutation(s) in,Assessed,[PMID:24777941],107820,ENSG00000113643,,P54136,P54136,HGNC:9870 +GARD:0017735,Orphanet,438117,ORPHA:438117,1,COL27A1,"[FLJ11895, KIAA1870, MGC11337]",collagen type XXVII alpha 1 chain,gene with protein product,9q32,Disease-causing germline mutation(s) in,Assessed,[PMID:24986830],608461,ENSG00000196739,,Q8IZC6,Q8IZC6,HGNC:22986 +GARD:0017736,Orphanet,438134,ORPHA:438134,1,PCNA,,proliferating cell nuclear antigen,gene with protein product,20p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24911150],176740,ENSG00000132646,,P12004,P12004,HGNC:8729 +GARD:0017737,Orphanet,438159,ORPHA:438159,1,STAT3,[APRF],signal transducer and activator of transcription 3,gene with protein product,17q21.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25038750],102582,ENSG00000168610,2994,P40763,P40763,HGNC:11364 +GARD:0017738,Orphanet,438207,ORPHA:438207,2,GNE,"[Uae1, bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase]",glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30171045],603824,ENSG00000159921,,Q9Y223,Q9Y223,HGNC:23657 +GARD:0017738,Orphanet,438207,ORPHA:438207,2,PRKACG,[PKACg],protein kinase cAMP-activated catalytic subunit gamma,gene with protein product,9q21.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25061177],176893,ENSG00000165059,1478,P22612,P22612,HGNC:9382 +GARD:0017740,Orphanet,438216,ORPHA:438216,1,PURA,"[PUR-ALPHA, PUR1, PURALPHA]",purine rich element binding protein A,gene with protein product,5q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25342064],600473,ENSG00000185129,,Q00577,Q00577,HGNC:9701 +GARD:0017742,Orphanet,439822,ORPHA:439822,1,PDE4D,"[Phosphodiesterase E3 dunce homolog (Drosophila), cAMP-specific 3',5'-cyclic phosphodiesterase 4D, phosphodiesterase E3 dunce homolog (Drosophila)]",phosphodiesterase 4D,gene with protein product,5q11.2-q12.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24203977],600129,ENSG00000113448,1303,Q08499,Q08499,HGNC:8783 +GARD:0017743,Orphanet,439897,ORPHA:439897,1,KIF14,[KIAA0042],kinesin family member 14,gene with protein product,1q32.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24128419],611279,ENSG00000118193,,Q15058,Q15058,HGNC:19181 +GARD:0017744,Orphanet,440392,ORPHA:440392,1,SFTPC,"[BRICD6, BRICHOS domain containing 6, PSP-C, SMDP2, SP-C]",surfactant protein C,gene with protein product,8p21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25782673],178620,ENSG00000168484,,P11686,P11686,HGNC:10802 +GARD:0017745,Orphanet,440402,ORPHA:440402,1,ABCA3,"[ABC-C, EST111653, LBM180]",ATP binding cassette subfamily A member 3,gene with protein product,16p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22018035],601615,ENSG00000167972,758,Q99758,Q99758,HGNC:33 +GARD:0017746,Orphanet,440427,ORPHA:440427,1,MARS1,"[CMT2U, MetRS, SPG70, methionine tRNA ligase 1, cytoplasmic]",methionyl-tRNA synthetase 1,gene with protein product,12q13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:24103465, PMID:25913036]",156560,ENSG00000166986,,P56192,P56192,HGNC:6898 +GARD:0017747,Orphanet,440706,ORPHA:440706,1,RPIA,[ribose 5-phosphate epimerase],ribose 5-phosphate isomerase A,gene with protein product,2p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:14988808, PMID:20499043]",180430,ENSG00000153574,,P49247,P49247,HGNC:10297 +GARD:0017748,Orphanet,440731,ORPHA:440731,1,FTL,"[L apoferritin, MGC71996, NBIA3, ferritin L subunit, ferritin L-chain, ferritin light polypeptide-like 3, neurodegeneration with brain iron accumulation 3]",ferritin light chain,gene with protein product,19q13.33,Disease-causing germline mutation(s) (gain of function) in,Assessed,,134790,ENSG00000087086,,P02792,P02792,HGNC:3999 +GARD:0017748,Orphanet,440731,ORPHA:440731,1,FTL,"[L apoferritin, MGC71996, NBIA3, ferritin L subunit, ferritin L-chain, ferritin light polypeptide-like 3, neurodegeneration with brain iron accumulation 3]",ferritin light chain,gene with protein product,19q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23940258],134790,ENSG00000087086,,P02792,P02792,HGNC:3999 +GARD:0017749,Orphanet,443057,ORPHA:443057,1,HFE,"[HFE1, HLA-H, high Fe]",homeostatic iron regulator,gene with protein product,6p22.2,Major susceptibility factor in,Assessed,[PMID:23741761],613609,ENSG00000010704,,Q30201,Q30201,HGNC:4886 +GARD:0017750,Orphanet,443062,ORPHA:443062,2,UROD,,uroporphyrinogen decarboxylase,gene with protein product,1p34.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23741761],613521,ENSG00000126088,,P06132,P06132,HGNC:12591 +GARD:0017750,Orphanet,443062,ORPHA:443062,2,HFE,"[HFE1, HLA-H, high Fe]",homeostatic iron regulator,gene with protein product,6p22.2,Modifying germline mutation in,Assessed,[PMID:23741761],613609,ENSG00000010704,,Q30201,Q30201,HGNC:4886 +GARD:0017751,Orphanet,443073,ORPHA:443073,1,IGHMBP2,"[CATF1, CMT2S, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7, cardiac transcription factor 1, zinc finger, AN1-type domain 7]",immunoglobulin mu DNA binding protein 2,gene with protein product,11q13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25439726],600502,ENSG00000132740,,P38935,,HGNC:5542 +GARD:0017752,Orphanet,443087,ORPHA:443087,2,AKR1C2,"[BABP, DD, DD2, HAKRD, MCDR2, dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III]",aldo-keto reductase family 1 member C2,gene with protein product,10p15.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21802064],600450,ENSG00000151632,,P52895,P52895,HGNC:385 +GARD:0017752,Orphanet,443087,ORPHA:443087,2,AKR1C4,"['3-alpha hydroxysteroid dehydrogenase, type I', 3-alpha-HSD, C11, CDR, DD4, HAKRA, MGC22581, chlordecone reductase, chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4, dihydrodiol dehydrogenase 4]",aldo-keto reductase family 1 member C4,gene with protein product,10p15.1,Modifying germline mutation in,Assessed,[PMID:21802064],600451,ENSG00000198610,,P17516,P17516,HGNC:387 +GARD:0017755,Orphanet,443197,ORPHA:443197,1,ALAS2,[sideroblastic/hypochromic anemia],5'-aminolevulinate synthase 2,gene with protein product,Xp11.21,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23409301],301300,ENSG00000158578,,P22557,P22557,HGNC:397 +GARD:0017757,Orphanet,443988,ORPHA:443988,1,CRB2,"[FLJ16786, FLJ38464]",crumbs cell polarity complex component 2,gene with protein product,9q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25557780],609720,ENSG00000148204,,Q5IJ48,,HGNC:18688 +GARD:0017758,Orphanet,443995,ORPHA:443995,1,EDNRA,"[ET-A, ETA-R, hET-AR]",endothelin receptor type A,gene with protein product,4q31.22-q31.23,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25772936],131243,ENSG00000151617,219,P25101,P25101,HGNC:3179 +GARD:0017759,Orphanet,444013,ORPHA:444013,1,GTPBP3,"[FLJ14700, GTPBG3, MSS1, MTGP1, THDF1]","GTP binding protein 3, mitochondrial",gene with protein product,19p13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:25434004],608536,ENSG00000130299,,Q969Y2,Q969Y2,HGNC:14880 +GARD:0017760,Orphanet,444048,ORPHA:444048,1,MCM9,"[FLJ20170, MGC35304, dJ329L24.3]",minichromosome maintenance 9 homologous recombination repair factor,gene with protein product,6q22.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25480036],610098,ENSG00000111877,,Q9NXL9,,HGNC:21484 +GARD:0017761,Orphanet,444072,ORPHA:444072,1,BRF1,"[BRF, TFIIIB90, hBRF]",BRF1 RNA polymerase III transcription initiation factor subunit,gene with protein product,14q32.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25561519],604902,ENSG00000185024,,Q92994,Q92994,HGNC:11551 +GARD:0017762,Orphanet,444092,ORPHA:444092,1,COPA,"[HEP-COP, proxenin, xenin]",COPI coat complex subunit alpha,gene with protein product,1q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25894502],601924,ENSG00000122218,,P53621,P53621,HGNC:2230 +GARD:0017763,Orphanet,444099,ORPHA:444099,1,CPT1C,"[CATL1, CPT1P, CPTIC, FLJ23809]",carnitine palmitoyltransferase 1C,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:25751282],608846,ENSG00000169169,,Q8TCG5,,HGNC:18540 +GARD:0017764,Orphanet,444138,ORPHA:444138,1,CAST,,calpastatin,gene with protein product,5q15,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25683118],114090,ENSG00000153113,,P20810,P20810,HGNC:1515 +GARD:0017765,Orphanet,444458,ORPHA:444458,1,NARS2,"[FLJ23441, SLM5, asparagine tRNA ligase 2, mitochondrial (putative)]","asparaginyl-tRNA synthetase 2, mitochondrial",gene with protein product,11q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25385316],612803,ENSG00000137513,,Q96I59,Q96I59,HGNC:26274 +GARD:0017766,Orphanet,444463,ORPHA:444463,1,TPP2,[TPPII],tripeptidyl peptidase 2,gene with protein product,13q33.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25414442],190470,ENSG00000134900,2423,P29144,P29144,HGNC:12016 +GARD:0017767,Orphanet,445038,ORPHA:445038,1,CLPB,"[ANKCLB, FLJ13152, HSP78, SKD3, ankyrin-repeat containing bacterial clp fusion, suppressor of potassium transport defect 3]",caseinolytic mitochondrial matrix peptidase chaperone subunit B,gene with protein product,11q13.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:25597510, PMID:25597511]",616254,ENSG00000162129,,Q9H078,,HGNC:30664 +GARD:0017768,Orphanet,445062,ORPHA:445062,1,DNAJC3,"[ERdj6, HP58, P58, P58IPK, endoplasmic reticulum DNA J domain-containing protein 6, interferon-induced, double-stranded RNA-activated protein kinase inhibitor, p58(IPK), protein kinase inhibitor of 58 kDa]",DnaJ heat shock protein family (Hsp40) member C3,gene with protein product,13q32.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25466870],601184,ENSG00000102580,,Q13217,Q13217,HGNC:9439 +GARD:0017769,Orphanet,445110,ORPHA:445110,1,POMK,"[FLJ23356, SGK196, SgK196]",protein O-mannose kinase,gene with protein product,8p11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24925318],615247,ENSG00000185900,,Q9H5K3,Q9H5K3,HGNC:26267 +GARD:0017770,Orphanet,447760,ORPHA:447760,1,ALDH18A1,"[P5CS, delta-1-pyrroline-5-carboxylate synthase]",aldehyde dehydrogenase 18 family member A1,gene with protein product,10q24.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26026163],138250,ENSG00000059573,,P54886,P54886,HGNC:9722 +GARD:0017771,Orphanet,447784,ORPHA:447784,1,MPC1,"[CGI-129, SLC54A1, dJ68L15.3]",mitochondrial pyruvate carrier 1,gene with protein product,6q27,Disease-causing germline mutation(s) in,Assessed,[PMID:22628558],614738,ENSG00000060762,3022,Q9Y5U8,Q9Y5U8,HGNC:21606 +GARD:0017772,Orphanet,447877,ORPHA:447877,2,POLD1,"[CDC2, CDC2 homolog (S. cerevisiae)]","DNA polymerase delta 1, catalytic subunit",gene with protein product,19q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23263490],174761,ENSG00000062822,,P28340,P28340,HGNC:9175 +GARD:0017772,Orphanet,447877,ORPHA:447877,2,POLE,"[DNA polymerase epsilon catalytic subunit A, POLE1]","DNA polymerase epsilon, catalytic subunit",gene with protein product,12q24.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23263490],174762,ENSG00000177084,,Q07864,Q07864,HGNC:9177 +GARD:0017773,Orphanet,447893,ORPHA:447893,1,POLR3A,"[C160, RPC1, RPC155, hRPC155]",RNA polymerase III subunit A,gene with protein product,10q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22036171],614258,ENSG00000148606,,O14802,O14802,HGNC:30074 +GARD:0017774,Orphanet,447896,ORPHA:447896,1,POLR3A,"[C160, RPC1, RPC155, hRPC155]",RNA polymerase III subunit A,gene with protein product,10q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20640464],614258,ENSG00000148606,,O14802,O14802,HGNC:30074 +GARD:0017775,Orphanet,447954,ORPHA:447954,1,MARS2,"['methionine tRNA ligase 2, mitochondrial', Methionine tRNA ligase 2, mitochondrial, SPAX3, mtMetRS]","methionyl-tRNA synthetase 2, mitochondrial",gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25754315],609728,ENSG00000247626,,Q96GW9,Q96GW9,HGNC:25133 +GARD:0017776,Orphanet,447961,ORPHA:447961,1,SASH1,"[KIAA0790, SH3D6A, dJ323M4.1]",SAM and SH3 domain containing 1,gene with protein product,6q24.3-q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25315659],607955,ENSG00000111961,,O94885,,HGNC:19182 +GARD:0017777,Orphanet,447964,ORPHA:447964,1,NAGLU,"[NAG, Sanfilippo disease IIIB]",N-acetyl-alpha-glucosaminidase,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25818867],609701,ENSG00000108784,,P54802,P54802,HGNC:7632 +GARD:0017778,Orphanet,447974,ORPHA:447974,1,MYO18B,[BK125H2.1],myosin XVIIIB,gene with protein product,22q12.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25748484],607295,ENSG00000133454,,Q8IUG5,,HGNC:18150 +GARD:0017779,Orphanet,447977,ORPHA:447977,1,ACTA1,"[NEM3, nemaline myopathy type 3]","actin alpha 1, skeletal muscle",gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,[PMID:25938801],102610,ENSG00000143632,,P68133,P68133,HGNC:129 +GARD:0017780,Orphanet,448251,ORPHA:448251,1,SLC9A1,"[PPP1R143, protein phosphatase 1, regulatory subunit 143]",solute carrier family 9 member A1,gene with protein product,1p36.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25205112],107310,ENSG00000090020,948,P19634,P19634,HGNC:11071 +GARD:0017781,Orphanet,448264,ORPHA:448264,2,TRPV3,[VRL3],transient receptor potential cation channel subfamily V member 3,gene with protein product,17p13.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25285920],607066,ENSG00000167723,509,Q8NET8,Q8NET8,HGNC:18084 +GARD:0017781,Orphanet,448264,ORPHA:448264,2,KRT16,"[NEPPK, focal non-epidermolytic palmoplantar keratoderma]",keratin 16,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:8595410],148067,ENSG00000186832,,P08779,P08779,HGNC:6423 +GARD:0017782,Orphanet,448267,ORPHA:448267,1,LBR,"[DHCR14B, TDRD18, tudor domain containing 18]",lamin B receptor,gene with protein product,1q42.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:23824842, PMID:25348816]",600024,ENSG00000143815,,Q14739,Q14739,HGNC:6518 +GARD:0017783,Orphanet,449291,ORPHA:449291,1,FMR1,"[FMRP, FRAXA, MGC87458]",fragile X messenger ribonucleoprotein 1,gene with protein product,Xq27.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301558],309550,ENSG00000102081,,Q06787,,HGNC:3775 +GARD:0017784,Orphanet,451612,ORPHA:451612,1,IGSF3,"[EWI-3, MGC117164, V8]",immunoglobulin superfamily member 3,gene with protein product,1p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24372406],603491,ENSG00000143061,,O75054,,HGNC:5950 +GARD:0017786,Orphanet,453521,ORPHA:453521,1,CWF19L1,"[FLJ10998, hDrn1, human Dbr1 associated ribonuclease 1]",CWF19 like cell cycle control factor 1,gene with protein product,10q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:25361784],616120,ENSG00000095485,,Q69YN2,,HGNC:25613 +GARD:0017787,Orphanet,453533,ORPHA:453533,1,DMXL2,"[DFNA71, KIAA0856, RC3, rabconnectin 3]",Dmx like 2,gene with protein product,15q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25248098],612186,ENSG00000104093,,Q8TDJ6,,HGNC:2938 +GARD:0017789,Orphanet,454821,ORPHA:454821,2,PLAG1,[ZNF912],PLAG1 zinc finger,gene with protein product,8q12.1,Part of a fusion gene in,Assessed,"[PMID:21394649, PMID:23821214]",603026,ENSG00000181690,,Q6DJT9,,HGNC:9045 +GARD:0017789,Orphanet,454821,ORPHA:454821,2,HMGA2,"[BABL, LIPO]",high mobility group AT-hook 2,gene with protein product,12q14.3,Part of a fusion gene in,Assessed,"[PMID:21394649, PMID:23821214]",600698,ENSG00000149948,,P52926,P52926,HGNC:5009 +GARD:0017790,Orphanet,454840,ORPHA:454840,1,NTHL1,"[NTH1, OCTS3]",nth like DNA glycosylase 1,gene with protein product,16p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:25938944, PMID:26559593]",602656,ENSG00000065057,,P78549,P78549,HGNC:8028 +GARD:0017791,Orphanet,456312,ORPHA:456312,1,PTRH2,"[BIT1, Bcl-2 inhibitor of transcription, CFAP37, CGI-147, PTH2, cilia and flagella associated protein 37]",peptidyl-tRNA hydrolase 2,gene with protein product,17q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25574476],608625,ENSG00000141378,,Q9Y3E5,Q9Y3E5,HGNC:24265 +GARD:0017792,Orphanet,456328,ORPHA:456328,2,MTM1,,myotubularin 1,gene with protein product,Xq28,Role in the phenotype of,Assessed,[PMID:8789451],300415,ENSG00000171100,,Q13496,Q13496,HGNC:7448 +GARD:0017792,Orphanet,456328,ORPHA:456328,2,MAMLD1,"[CG1, F18]",mastermind like domain containing 1,gene with protein product,Xq28,Role in the phenotype of,Assessed,"[PMID:26580071, PMID:9169146]",300120,ENSG00000013619,,Q13495,Q13495,HGNC:2568 +GARD:0017793,Orphanet,456369,ORPHA:456369,1,GYG1,[glycogenin glucosyltransferase],glycogenin 1,gene with protein product,3q24,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25272951],603942,ENSG00000163754,,P46976,P46976,HGNC:4699 +GARD:0017794,Orphanet,457050,ORPHA:457050,1,CHCHD10,"[MIX17 homolog A, MIX17A, N27C7-4]",coiled-coil-helix-coiled-coil-helix domain containing 10,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:25193783],615903,ENSG00000250479,,Q8WYQ3,Q8WYQ3,HGNC:15559 +GARD:0017795,Orphanet,457088,ORPHA:457088,1,CARD9,,caspase recruitment domain family member 9,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19864672, PMID:24131138]",607212,ENSG00000187796,,Q9H257,Q9H257,HGNC:16391 +GARD:0017796,Orphanet,457185,ORPHA:457185,1,COQ4,[CGI-92],coenzyme Q4,gene with protein product,9q34.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:25658047, PMID:26185144]",612898,ENSG00000167113,,Q9Y3A0,,HGNC:19693 +GARD:0017797,Orphanet,457193,ORPHA:457193,1,KAT6A,"[MOZ, Monocytic leukemia zinc finger protein, ZC2HC6A]",lysine acetyltransferase 6A,gene with protein product,8p11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:25728775, PMID:25728777]",601408,ENSG00000083168,2665,Q92794,Q92794,HGNC:13013 +GARD:0017798,Orphanet,457212,ORPHA:457212,1,SLC6A17,,solute carrier family 6 member 17,gene with protein product,1p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25704603],610299,ENSG00000197106,943,Q9H1V8,,HGNC:31399 +GARD:0017799,Orphanet,457223,ORPHA:457223,1,MRPS7,"[MRP-S, RP-S7, RPMS7]",mitochondrial ribosomal protein S7,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25556185],611974,ENSG00000125445,,Q9Y2R9,Q9Y2R9,HGNC:14499 +GARD:0017800,Orphanet,457240,ORPHA:457240,1,THOC2,"[THO2, dJ506G2.1]",THO complex 2,gene with protein product,Xq25,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26166480],300395,ENSG00000125676,,Q8NI27,Q8NI27,HGNC:19073 +GARD:0017801,Orphanet,457265,ORPHA:457265,1,LMNB2,,lamin B2,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25954030],150341,ENSG00000176619,,Q03252,Q03252,HGNC:6638 +GARD:0017802,Orphanet,457279,ORPHA:457279,1,PPP2R5D,"[B56D, B56delta]",protein phosphatase 2 regulatory subunit B'delta,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26168268],601646,ENSG00000112640,,Q14738,Q14738,HGNC:9312 +GARD:0017803,Orphanet,457284,ORPHA:457284,1,PPP2R1A,"[PP2A-Aalpha, PP2AA, PR65A, protein phosphatase 2, 65kDa regulatory subunit A, protein phosphatase 2A structural subunit A, alpha isoform, protein phosphatase 2A, regulatory subunit A, alpha isoform]",protein phosphatase 2 scaffold subunit Aalpha,gene with protein product,19q13.41,Disease-causing germline mutation(s) in,Assessed,[PMID:26168268],605983,ENSG00000105568,,P30153,P30153,HGNC:9302 +GARD:0017804,Orphanet,457351,ORPHA:457351,1,SPATA5,"[AFG2, ATPase family gene 2 homolog (S. cerevisiae), SPAF]",spermatogenesis associated 5,gene with protein product,4q28.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26299366],613940,ENSG00000145375,,Q8NB90,,HGNC:18119 +GARD:0017805,Orphanet,457359,ORPHA:457359,1,HERC1,"[p532, p619]",HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,gene with protein product,15q22.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26138117, PMID:27108999]",605109,ENSG00000103657,,Q15751,Q15751,HGNC:4867 +GARD:0017806,Orphanet,457375,ORPHA:457375,1,ITPA,"[HLC14-06-P, dJ794I6.3, nucleoside-triphosphate diphosphatase]",inosine triphosphatase,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,[PMID:26224535],147520,ENSG00000125877,,Q9BY32,Q9BY32,HGNC:6176 +GARD:0017807,Orphanet,457378,ORPHA:457378,1,TAPT1,[FLJ90013],transmembrane anterior posterior transformation 1,gene with protein product,4p15.32,Disease-causing germline mutation(s) in,Assessed,[PMID:26365339],612758,ENSG00000169762,,Q6NXT6,,HGNC:26887 +GARD:0017808,Orphanet,457395,ORPHA:457395,1,RSPRY1,[KIAA1972],ring finger and SPRY domain containing 1,gene with protein product,16q13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26365341],616585,ENSG00000159579,,Q96DX4,,HGNC:29420 +GARD:0017809,Orphanet,457406,ORPHA:457406,1,ISCA2,[ISA2],iron-sulfur cluster assembly 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25539947],615317,ENSG00000165898,,Q86U28,Q86U28,HGNC:19857 +GARD:0017810,Orphanet,458798,ORPHA:458798,1,TRPC3,,transient receptor potential cation channel subfamily C member 3,gene with protein product,4q27,Disease-causing germline mutation(s) in,Assessed,[PMID:25477146],602345,ENSG00000138741,488,Q13507,Q13507,HGNC:12335 +GARD:0017811,Orphanet,458803,ORPHA:458803,1,CACNA1G,"[Cav3.1, NBR13]",calcium voltage-gated channel subunit alpha1 G,gene with protein product,17q21.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:26456284, PMID:26715324]",604065,ENSG00000006283,535,O43497,O43497,HGNC:1394 +GARD:0017812,Orphanet,459051,ORPHA:459051,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:26183434],120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0017813,Orphanet,459056,ORPHA:459056,1,MAG,"[S-MAG, SIGLEC-4A, SIGLEC4A, sialic acid binding Ig-like lectin 4A]",myelin associated glycoprotein,gene with protein product,19q13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26179919],159460,ENSG00000105695,,P20916,P20916,HGNC:6783 +GARD:0017814,Orphanet,459061,ORPHA:459061,1,DPH1,"[OVCA1, ovarian tumor suppressor candidate 1]",diphthamide biosynthesis 1,gene with protein product,17p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26220823],603527,ENSG00000108963,,Q9BZG8,Q9BZG8,HGNC:3003 +GARD:0017815,Orphanet,459070,ORPHA:459070,1,RPL10,"[DXS648, DXS648E, FLJ23544, L10, NOV, QM]",ribosomal protein L10,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:26290468],312173,ENSG00000147403,,P27635,P27635,HGNC:10298 +GARD:0017816,Orphanet,464282,ORPHA:464282,1,HACE1,[KIAA1320],HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1,gene with protein product,6q16.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26424145, PMID:26437029]",610876,ENSG00000085382,,Q8IYU2,Q8IYU2,HGNC:21033 +GARD:0017817,Orphanet,464288,ORPHA:464288,1,PRMT7,"[FLJ10640, KIAA1933]",protein arginine methyltransferase 7,gene with protein product,16q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26437029],610087,ENSG00000132600,1258,Q9NVM4,Q9NVM4,HGNC:25557 +GARD:0017818,Orphanet,464366,ORPHA:464366,1,NEK9,"[DKFZp434D0935, MGC16714, NERCC, NERCC1, Nek8]",NIMA related kinase 9,gene with protein product,14q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26908619],609798,ENSG00000119638,2124,Q8TD19,Q8TD19,HGNC:18591 +GARD:0017819,Orphanet,464440,ORPHA:464440,1,COL6A3,,collagen type VI alpha 3 chain,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26004199],120250,ENSG00000163359,,P12111,P12111,HGNC:2213 +GARD:0017820,Orphanet,464724,ORPHA:464724,2,NBAS,[NAG],NBAS subunit of NRZ tethering complex,gene with protein product,2p24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26073778],608025,ENSG00000151779,,A2RRP1,A2RRP1,HGNC:15625 +GARD:0017820,Orphanet,464724,ORPHA:464724,2,RINT1,"[FLJ11785, RINT-1]",RAD50 interactor 1,gene with protein product,7q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31204009],610089,ENSG00000135249,,Q6NUQ1,,HGNC:21876 +GARD:0017821,Orphanet,464738,ORPHA:464738,1,MED25,"[ACID1, ARC92, DKFZp434K0512, TCBAP0758]",mediator complex subunit 25,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:25792360],610197,ENSG00000104973,,Q71SY5,Q71SY5,HGNC:28845 +GARD:0017822,Orphanet,464760,ORPHA:464760,1,MMP19,[RASI-1],matrix metallopeptidase 19,gene with protein product,12q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25581579],601807,ENSG00000123342,1642,Q99542,Q99542,HGNC:7165 +GARD:0017823,Orphanet,465824,ORPHA:465824,1,CHUK,"[I-kappa-B kinase, IKK-alpha, IKK1, IKKA, IkBKA, NFKBIKA, inhibitor of nuclear factor kappa-B kinase subunit alpha]",component of inhibitor of nuclear factor kappa B kinase complex,gene with protein product,10q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20961246],600664,ENSG00000213341,1989,O15111,O15111,HGNC:1974 +GARD:0017824,Orphanet,466688,ORPHA:466688,1,FRMD4A,"[FLJ10210, KIAA1294, bA295P9.4]",FERM domain containing 4A,gene with protein product,10p13,Disease-causing germline mutation(s) in,Assessed,[PMID:25388005],616305,ENSG00000151474,,Q9P2Q2,,HGNC:25491 +GARD:0017825,Orphanet,466703,ORPHA:466703,1,TMEM199,"[MGC45714, VMA12, VPH2]",transmembrane protein 199,gene with protein product,17q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26833330],616815,ENSG00000244045,,Q8N511,Q8N511,HGNC:18085 +GARD:0017826,Orphanet,466718,ORPHA:466718,1,MAPKAPK3,"[3PK, 3pK, MAPKAP3, MK-3, MK3]",MAPK activated protein kinase 3,gene with protein product,3p21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26744326],602130,ENSG00000114738,2095,Q16644,Q16644,HGNC:6888 +GARD:0017827,Orphanet,466722,ORPHA:466722,1,FARS2,"['phenylalanine tRNA ligase 2, mitochondrial', Phenylalanine tRNA ligase 2, mitochondrial, dJ236A3.1, mtPheRS]","phenylalanyl-tRNA synthetase 2, mitochondrial",gene with protein product,6p25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26553276],611592,ENSG00000145982,,O95363,O95363,HGNC:21062 +GARD:0017828,Orphanet,466729,ORPHA:466729,2,TFAP2B,"[AP-2beta, AP2-B]",transcription factor AP-2 beta,gene with protein product,6p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21643846],601601,ENSG00000008196,,Q92481,Q92481,HGNC:11743 +GARD:0017828,Orphanet,466729,ORPHA:466729,2,PRDM6,"[KMT8C, PRISM]",PR/SET domain 6,gene with protein product,5q23.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27181681],616982,ENSG00000061455,,Q9NQX0,,HGNC:9350 +GARD:0017829,Orphanet,466768,ORPHA:466768,1,MORC2,"[AC004542.C22.1, KIAA0852, ZCW3]",MORC family CW-type zinc finger 2,gene with protein product,22q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26497905],616661,ENSG00000133422,,Q9Y6X9,Q9Y6X9,HGNC:23573 +GARD:0017830,Orphanet,466775,ORPHA:466775,1,SPG11,"[FLJ21439, spatacsin]","SPG11 vesicle trafficking associated, spatacsin",gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26556829],610844,ENSG00000104133,,Q96JI7,,HGNC:11226 +GARD:0017831,Orphanet,466784,ORPHA:466784,1,SLC25A26,,solute carrier family 25 member 26,gene with protein product,3p14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26522469],611037,ENSG00000144741,1074,Q70HW3,Q70HW3,HGNC:20661 +GARD:0017832,Orphanet,466791,ORPHA:466791,1,NONO,"[NMT55, NRB54, Nuclear RNA-binding protein, 54-kD, P54, P54NRB, PPP1R114, non-Pou domain-containing octamer (ATGCAAAT) binding protein, protein phosphatase 1, regulatory subunit 114]",non-POU domain containing octamer binding,gene with protein product,Xq13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26571461],300084,ENSG00000147140,,Q15233,Q15233,HGNC:7871 +GARD:0017833,Orphanet,466794,ORPHA:466794,1,SCYL1,"[GKLP, HT019, MGC78454, NKTL, P105, TAPK, TEIF, TRAP, telomerase regulation-associated protein, telomerase transcriptional elements-interacting factor, teratoma-associated tyrosine kinase]",SCY1 like pseudokinase 1,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26581903],607982,ENSG00000142186,2195,Q96KG9,,HGNC:14372 +GARD:0017834,Orphanet,466801,ORPHA:466801,1,LIMS2,"[PINCH-2, PINCH2, particularly interesting new Cys-His protein 2]",LIM zinc finger domain containing 2,gene with protein product,2q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25589244],607908,ENSG00000072163,,Q7Z4I7,Q7Z4I7,HGNC:16084 +GARD:0017835,Orphanet,466806,ORPHA:466806,1,SLFN14,,schlafen family member 14,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:26280575],614958,ENSG00000236320,,P0C7P3,,HGNC:32689 +GARD:0017836,Orphanet,466926,ORPHA:466926,1,EXT2,"[Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, SOTV]",exostosin glycosyltransferase 2,gene with protein product,11p11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26246518],608210,ENSG00000151348,,Q93063,Q93063,HGNC:3513 +GARD:0017837,Orphanet,466934,ORPHA:466934,1,VPS11,"[PEP5, RNF108]",VPS11 core subunit of CORVET and HOPS complexes,gene with protein product,11q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26307567],608549,ENSG00000160695,,Q9H270,,HGNC:14583 +GARD:0017839,Orphanet,466950,ORPHA:466950,1,WAC,"[BM-016, FLJ31290, MGC10753, PRO1741, Wwp4]",WW domain containing adaptor with coiled-coil,gene with protein product,10p12.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26264232],615049,ENSG00000095787,,Q9BTA9,Q9BTA9,HGNC:17327 +GARD:0017840,Orphanet,467176,ORPHA:467176,1,CCDC174,"[FLJ33839, ctr1]",coiled-coil domain containing 174,gene with protein product,3p25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26358778],616735,ENSG00000154781,,Q6PII3,Q6PII3,HGNC:28033 +GARD:0017841,Orphanet,468631,ORPHA:468631,1,RTTN,[DKFZP434G145],rotatin,gene with protein product,18q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26608784],610436,ENSG00000176225,,Q86VV8,,HGNC:18654 +GARD:0017842,Orphanet,468661,ORPHA:468661,1,IBA57,"['iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa', FLJ12734, Iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa]",iron-sulfur cluster assembly factor IBA57,gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,[PMID:25609768],615316,ENSG00000181873,,Q5T440,,HGNC:27302 +GARD:0017843,Orphanet,468666,ORPHA:468666,1,ITPR2,"[CFAP48, IP3R2, cilia and flagella associated protein 48]","inositol 1,4,5-trisphosphate receptor type 2",gene with protein product,12p11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25329695],600144,ENSG00000123104,744,Q14571,Q14571,HGNC:6181 +GARD:0017844,Orphanet,468672,ORPHA:468672,1,CRIM1,,cysteine rich transmembrane BMP regulator 1,gene with protein product,2p22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25561690],606189,ENSG00000150938,,Q9NZV1,,HGNC:2359 +GARD:0017845,Orphanet,468684,ORPHA:468684,1,CCDC115,"[FLJ30131, MGC12981, ccp1]",coiled-coil domain containing 115,gene with protein product,2q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26833332],613734,ENSG00000136710,,Q96NT0,,HGNC:28178 +GARD:0017846,Orphanet,468699,ORPHA:468699,1,SLC39A8,[BIGM103],solute carrier family 39 member 8,gene with protein product,4q24,Disease-causing germline mutation(s) in,Assessed,"[PMID:26637978, PMID:26637979]",608732,ENSG00000138821,1187,Q9C0K1,Q9C0K1,HGNC:20862 +GARD:0017847,Orphanet,476084,ORPHA:476084,1,BVES,"[HBVES, POP1, POPDC1, popeye domain containing 1]",blood vessel epicardial substance,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,[PMID:26642364],604577,ENSG00000112276,,Q8NE79,,HGNC:1152 +GARD:0017848,Orphanet,476102,ORPHA:476102,2,RELA,[p65],"RELA proto-oncogene, NF-kB subunit",gene with protein product,11q13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:32969189],164014,ENSG00000173039,,Q04206,Q04206,HGNC:9955 +GARD:0017848,Orphanet,476102,ORPHA:476102,2,TNFAIP3,"[A20, OTUD7C]",TNF alpha induced protein 3,gene with protein product,6q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26642243],191163,ENSG00000118503,,P21580,P21580,HGNC:11896 +GARD:0017849,Orphanet,476113,ORPHA:476113,1,TFRC,"[CD71, TFR1, p90]",transferrin receptor,gene with protein product,3q29,Disease-causing germline mutation(s) in,Assessed,[PMID:26642240],190010,ENSG00000072274,3196,P02786,P02786,HGNC:11763 +GARD:0017850,Orphanet,476126,ORPHA:476126,1,TRIO,[ARHGEF23],trio Rho guanine nucleotide exchange factor,gene with protein product,5p15.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26721934],601893,ENSG00000038382,2255,O75962,O75962,HGNC:12303 +GARD:0017851,Orphanet,476394,ORPHA:476394,1,PMP2,"[FABP8, M-FABP, MP2]",peripheral myelin protein 2,gene with protein product,8q21.13,Disease-causing germline mutation(s) in,Assessed,[PMID:26828946],170715,ENSG00000147588,2544,P02689,,HGNC:9117 +GARD:0017852,Orphanet,477661,ORPHA:477661,1,IL21,"[IL-21, Za11]",interleukin 21,gene with protein product,4q27,Disease-causing germline mutation(s) in,Assessed,"[PMID:19890111, PMID:24746753]",605384,ENSG00000138684,,Q9HBE4,,HGNC:6005 +GARD:0017853,Orphanet,477673,ORPHA:477673,1,GPT2,"[ALT2, alanine aminotransferase 2]",glutamic--pyruvic transaminase 2,gene with protein product,16q11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:25758935, PMID:27601654]",138210,ENSG00000166123,,Q8TD30,Q8TD30,HGNC:18062 +GARD:0017854,Orphanet,477684,ORPHA:477684,1,TRMT5,"[TRM5, tRNA (guanine(37)-N1)-methyltransferase]",tRNA methyltransferase 5,gene with protein product,14q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26189817],611023,ENSG00000126814,,Q32P41,Q32P41,HGNC:23141 +GARD:0017855,Orphanet,477749,ORPHA:477749,1,COL4A1,,collagen type IV alpha 1 chain,gene with protein product,13q34,Disease-causing germline mutation(s) in,Assessed,[PMID:27666438],120130,ENSG00000187498,,P02462,P02462,HGNC:2202 +GARD:0017856,Orphanet,477774,ORPHA:477774,1,CARS2,"[FLJ12118, cysteine tRNA ligase 2, mitochondrial (putative)]","cysteinyl-tRNA synthetase 2, mitochondrial",gene with protein product,13q34,Disease-causing germline mutation(s) in,Assessed,"[PMID:25361775, PMID:25787132]",612800,ENSG00000134905,,Q9HA77,Q9HA77,HGNC:25695 +GARD:0017857,Orphanet,477787,ORPHA:477787,1,PLA2G4A,[cPLA2-alpha],phospholipase A2 group IVA,gene with protein product,1q31.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18451993, PMID:25102815]",600522,ENSG00000116711,1424,P47712,P47712,HGNC:9035 +GARD:0017858,Orphanet,477814,ORPHA:477814,1,DIAPH1,"[LFHL1, hDIA1]",diaphanous related formin 1,gene with protein product,5q31.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:24781755, PMID:2643574]",602121,ENSG00000131504,,O60610,O60610,HGNC:2876 +GARD:0017859,Orphanet,477817,ORPHA:477817,1,RAI1,"[DKFZP434A139, KIAA1820, MGC12824, SMS]",retinoic acid induced 1,gene with protein product,17p11.2,Role in the phenotype of,Assessed,[PMID:26544804],607642,ENSG00000108557,,Q7Z5J4,Q7Z5J4,HGNC:9834 +GARD:0017860,Orphanet,477831,ORPHA:477831,1,PDGFRB,"[CD140b, JTK12, PDGFR1]",platelet derived growth factor receptor beta,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,"[PMID:25454926, PMID:26455322]",173410,ENSG00000113721,1804,P09619,P09619,HGNC:8804 +GARD:0017861,Orphanet,477857,ORPHA:477857,1,RORC,"[NR1F3, RORG, RZRG, TOR]",RAR related orphan receptor C,gene with protein product,1q21,Disease-causing germline mutation(s) in,Assessed,[PMID:26160376],602943,ENSG00000143365,600,P51449,P51449,HGNC:10260 +GARD:0017862,Orphanet,477993,ORPHA:477993,1,KDM1A,"[BHC110, KIAA0601, LSD1, Lysine-specific histone demethylase 1A]",lysine demethylase 1A,gene with protein product,1p36.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:24838796, PMID:26656649]",609132,ENSG00000004487,2669,O60341,O60341,HGNC:29079 +GARD:0017863,Orphanet,478029,ORPHA:478029,1,TXN2,[MT-TRX],thioredoxin 2,gene with protein product,22q12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26626369],609063,ENSG00000100348,,Q99757,Q99757,HGNC:17772 +GARD:0017864,Orphanet,478042,ORPHA:478042,1,TRMT10C,"[FLJ20432, MRPP1, mitochondrial RNase P subunit 1]","tRNA methyltransferase 10C, mitochondrial RNase P subunit",gene with protein product,3q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27132592],615423,ENSG00000174173,,Q7L0Y3,Q7L0Y3,HGNC:26022 +GARD:0017865,Orphanet,478049,ORPHA:478049,1,MIPEP,[MIP],mitochondrial intermediate peptidase,gene with protein product,13q12.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:25778941, PMID:27799064]",602241,ENSG00000027001,,Q99797,,HGNC:7104 +GARD:0017866,Orphanet,478664,ORPHA:478664,1,PRDM12,"[PFM9, PR-domain containing protein 12, PR-domain zinc finger protein 12]",PR/SET domain 12,gene with protein product,9q34.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:26005867, PMID:26975306, PMID:28050684]",616458,ENSG00000130711,,Q9H4Q4,,HGNC:13997 +GARD:0017867,Orphanet,480476,ORPHA:480476,1,NR1H4,"[FXR, HRR-1, HRR1, RIP14, bile acid receptor, farnesoid X receptor]",nuclear receptor subfamily 1 group H member 4,gene with protein product,12q23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26888176],603826,ENSG00000012504,603,Q96RI1,Q96RI1,HGNC:7967 +GARD:0017868,Orphanet,480536,ORPHA:480536,1,MSH3,"[DUP, Divergent upstream protein, MRP1, Mismatch repair protein 1]",mutS homolog 3,gene with protein product,5q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27476653],600887,ENSG00000113318,,P20585,P20585,HGNC:7326 +GARD:0017869,Orphanet,480682,ORPHA:480682,1,POGLUT1,"[9630046K23Rik, KDELC family like 1, KDELCL1, MDS010, MDSRP, MGC32995, Rumi, hCLP46]",protein O-glucosyltransferase 1,gene with protein product,3q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:27807076],615618,ENSG00000163389,,Q8NBL1,Q8NBL1,HGNC:22954 +GARD:0017870,Orphanet,480851,ORPHA:480851,1,SRC,"[ASV, c-src]","SRC proto-oncogene, non-receptor tyrosine kinase",gene with protein product,20q11.23,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26936507],190090,ENSG00000197122,2206,P12931,P12931,HGNC:11283 +GARD:0017871,Orphanet,480898,ORPHA:480898,1,EMC1,,ER membrane protein complex subunit 1,gene with protein product,1p36.13,Disease-causing germline mutation(s) in,Assessed,[PMID:26942288],616846,ENSG00000127463,,Q8N766,,HGNC:28957 +GARD:0017872,Orphanet,480907,ORPHA:480907,1,TAF1,"[DYT3/TAF1, KAT4, NSCL2, TAFII250]",TATA-box binding protein associated factor 1,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26637982],313650,ENSG00000147133,2231,P21675,P21675,HGNC:11535 +GARD:0017873,Orphanet,481152,ORPHA:481152,1,PYCR2,[P5CR2],pyrroline-5-carboxylate reductase 2,gene with protein product,1q42.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:25865492, PMID:27130255]",616406,ENSG00000143811,,Q96C36,R-HSA-6783954,HGNC:30262 +GARD:0017874,Orphanet,481662,ORPHA:481662,3,STING1,"[ERIS, FLJ38577, MITA, MPYS, NET23, STING, endoplasmic reticulum IFN stimulator, stimulator of interferon genes]",stimulator of interferon response cGAMP interactor 1,gene with protein product,5q31.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:27566796],612374,ENSG00000184584,2902,Q86WV6,Q86WV6,HGNC:27962 +GARD:0017874,Orphanet,481662,ORPHA:481662,3,SAMHD1,"[AGS5, Aicardi-Goutieres syndrome 5, HD domain containing 1, HDDC1, MOP-5, Mg11, SBBI88, monocyte protein 5]",SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1,gene with protein product,20q11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27566796],606754,ENSG00000101347,,Q9Y3Z3,Q9Y3Z3,HGNC:15925 +GARD:0017874,Orphanet,481662,ORPHA:481662,3,TREX1,[DRN3],three prime repair exonuclease 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27566796],606609,ENSG00000213689,,Q9NSU2,Q9NSU2,HGNC:12269 +GARD:0017875,Orphanet,481665,ORPHA:481665,1,USP18,[Ubl carboxyl-terminal hydrolase 18],ubiquitin specific peptidase 18,gene with protein product,22q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:27325888, PMID:27821552]",607057,ENSG00000184979,,Q9UMW8,Q9UMW8,HGNC:12616 +GARD:0017876,Orphanet,481986,ORPHA:481986,1,COL4A1,,collagen type IV alpha 1 chain,gene with protein product,13q34,Disease-causing germline mutation(s) in,Assessed,"[PMID:23225343, PMID:25500781, PMID:26576802]",120130,ENSG00000187498,,P02462,P02462,HGNC:2202 +GARD:0017877,Orphanet,482077,ORPHA:482077,1,HTRA1,"[ARMD7, HtrA, IGFBP5-protease]",HtrA serine peptidase 1,gene with protein product,10q26.13,Disease-causing germline mutation(s) in,Assessed,[PMID:26063658],602194,ENSG00000166033,3194,Q92743,Q92743,HGNC:9476 +GARD:0017878,Orphanet,482601,ORPHA:482601,1,ADSS1,[FLJ38602],adenylosuccinate synthase 1,gene with protein product,14q32.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:26506222, PMID:27868399, PMID:28268051]",612498,ENSG00000185100,,Q8N142,Q8N142,HGNC:20093 +GARD:0017879,Orphanet,485275,ORPHA:485275,3,SIX3,,SIX homeobox 3,gene with protein product,2p21,Major susceptibility factor in,Assessed,[PMID:20157829],603714,ENSG00000138083,,O95343,O95343,HGNC:10889 +GARD:0017879,Orphanet,485275,ORPHA:485275,3,EMX2,,empty spiracles homeobox 2,gene with protein product,10q26.11,Major susceptibility factor in,Assessed,"[PMID:17506092, PMID:8528262, PMID:9153481, PMID:9359037]",600035,ENSG00000170370,,Q04743,Q04743,HGNC:3341 +GARD:0017879,Orphanet,485275,ORPHA:485275,3,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,Major susceptibility factor in,Assessed,"[PMID:19533790, PMID:20157829]",600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0017880,Orphanet,485350,ORPHA:485350,1,CLCN4,"[CLC4, ClC-4]",chloride voltage-gated channel 4,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27550844],302910,ENSG00000073464,703,P51793,P51793,HGNC:2022 +GARD:0017881,Orphanet,485421,ORPHA:485421,1,MFF,[GL004],mitochondrial fission factor,gene with protein product,2q36.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22499341, PMID:26783368]",614785,ENSG00000168958,,Q9GZY8,,HGNC:24858 +GARD:0017882,Orphanet,486811,ORPHA:486811,2,ASCC1,"[ASC1p50, CGI-18, Em:AC022392.3, p50]",activating signal cointegrator 1 complex subunit 1,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:26924529, PMID:28218388]",614215,ENSG00000138303,,Q8N9N2,Q8N9N2,HGNC:24268 +GARD:0017882,Orphanet,486811,ORPHA:486811,2,TRIP4,"[ASC-1, Activating Signal Cointegrator-1, HsT17391, ZC2HC5, zinc finger, C2HC5-type]",thyroid hormone receptor interactor 4,gene with protein product,15q22.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:26924529, PMID:28218388]",604501,ENSG00000103671,,Q15650,,HGNC:12310 +GARD:0017883,Orphanet,486815,ORPHA:486815,1,TRIP4,"[ASC-1, Activating Signal Cointegrator-1, HsT17391, ZC2HC5, zinc finger, C2HC5-type]",thyroid hormone receptor interactor 4,gene with protein product,15q22.31,Disease-causing germline mutation(s) in,Assessed,[PMID:27008887],604501,ENSG00000103671,,Q15650,,HGNC:12310 +GARD:0017884,Orphanet,487796,ORPHA:487796,1,CDC42,"[CDC42Hs, G25K, GTP binding protein, 25kDa]",cell division cycle 42,gene with protein product,1p36.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:26386261, PMID:26708094]",116952,ENSG00000070831,,P60953,P60953,HGNC:1736 +GARD:0017885,Orphanet,487825,ORPHA:487825,1,TBL1XR1,"[C21, DC42, FLJ12894, IRA1, TBLR1]",TBL1X receptor 1,gene with protein product,3q26.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:21834056, PMID:26769062, PMID:28562391]",608628,ENSG00000177565,,Q9BZK7,Q9BZK7,HGNC:29529 +GARD:0017886,Orphanet,488168,ORPHA:488168,1,MSMO1,"[DESP4, ERG25]",methylsterol monooxygenase 1,gene with protein product,4q32.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21285510, PMID:23042573, PMID:24144731]",607545,ENSG00000052802,,Q15800,Q15800,HGNC:10545 +GARD:0017887,Orphanet,488191,ORPHA:488191,4,PATL2,[Pat1a],PAT1 homolog 2,gene with protein product,15q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28965849],614661,ENSG00000229474,,C9JE40,,HGNC:33630 +GARD:0017887,Orphanet,488191,ORPHA:488191,4,PANX1,"[MRS1, PX1, UNQ2529, innexin]",pannexin 1,gene with protein product,11q21,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:33495594],608420,ENSG00000110218,735,Q96RD7,Q96RD7,HGNC:8599 +GARD:0017887,Orphanet,488191,ORPHA:488191,4,TUBB8,"[bA631M21.2, class VIII beta-tubulin]",tubulin beta 8 class VIII,gene with protein product,10p15.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26789871],616768,ENSG00000261456,2753,Q3ZCM7,Q3ZCM7,HGNC:20773 +GARD:0017887,Orphanet,488191,ORPHA:488191,4,WEE2,"[FLJ16107, WEE1B]",WEE2 oocyte meiosis inhibiting kinase,gene with protein product,7q34,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29606300],614084,ENSG00000214102,2279,P0C1S8,,HGNC:19684 +GARD:0017888,Orphanet,488197,ORPHA:488197,1,MIR204,[hsa-mir-204],microRNA 204,Non-coding RNA,9q21.12,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:26056285, PMID:26159420]",610942,ENSG00000207935,,,,HGNC:31582 +GARD:0017889,Orphanet,488232,ORPHA:488232,1,MAP3K20,"[MLK7, MLTK, MLTKalpha, MLTKbeta, MRK, ZAK, ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium), mixed lineage kinase 7]",mitogen-activated protein kinase kinase kinase 20,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26755636],609479,ENSG00000091436,2289,Q9NYL2,Q9NYL2,HGNC:17797 +GARD:0017891,Orphanet,488333,ORPHA:488333,1,HARS1,"['histidine tRNA ligase 1, cytoplasmic', HisRS, Histidine tRNA ligase 1, cytoplasmic, Jo-1 antigen]",histidyl-tRNA synthetase 1,gene with protein product,5q31.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26072516],142810,ENSG00000170445,,P12081,P12081,HGNC:4816 +GARD:0017892,Orphanet,488594,ORPHA:488594,1,CAPN1,"[CANP, CANPL1, muCANP, muCL]",calpain 1,gene with protein product,11q13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,,114220,ENSG00000014216,2336,P07384,,HGNC:1476 +GARD:0017893,Orphanet,488613,ORPHA:488613,1,GNB1,"[guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1, transducin beta chain 1]",G protein subunit beta 1,gene with protein product,1p36.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:27108799, PMID:27668284, PMID:28087732]",139380,ENSG00000078369,,P62873,P62873,HGNC:4396 +GARD:0017894,Orphanet,488618,ORPHA:488618,1,TKT,[Wernicke-Korsakoff syndrome],transketolase,gene with protein product,3p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27259054],606781,ENSG00000163931,,P29401,P29401,HGNC:11834 +GARD:0017895,Orphanet,488627,ORPHA:488627,1,PUS3,"[FKSG32, tRNA pseudouridine(38/39) synthase, tRNA-uridine isomerase 3]",pseudouridine synthase 3,gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27055666],616283,ENSG00000110060,,Q9BZE2,Q9BZE2,HGNC:25461 +GARD:0017896,Orphanet,488632,ORPHA:488632,1,TBCK,"[HSPC302, MGC16169]",TBC1 domain containing kinase,gene with protein product,4q24,Disease-causing germline mutation(s) in,Assessed,"[PMID:18541960, PMID:27040691, PMID:27040692, PMID:27275012, PMID:27748029]",616899,ENSG00000145348,2236,Q8TEA7,,HGNC:28261 +GARD:0017897,Orphanet,488635,ORPHA:488635,1,PIGG,"[FLJ20265, GPI ethanolamine phosphate transferase 2, GPI7, LAS21]",phosphatidylinositol glycan anchor biosynthesis class G,gene with protein product,4p16.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26996948, PMID:28581210]",616918,ENSG00000174227,,Q5H8A4,Q5H8A4,HGNC:25985 +GARD:0017898,Orphanet,488642,ORPHA:488642,1,TELO2,"[KIAA0683, TEL2, hCLK2]",telomere maintenance 2,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27132593],611140,ENSG00000100726,,Q9Y4R8,Q9Y4R8,HGNC:29099 +GARD:0017899,Orphanet,488647,ORPHA:488647,1,DDX41,"[ABS, Abstrakt, MGC8828]",DEAD-box helicase 41,gene with protein product,5q35.3,Major susceptibility factor in,Assessed,"[PMID:25920683, PMID:26712909]",608170,ENSG00000183258,,Q9UJV9,Q9UJV9,HGNC:18674 +GARD:0017900,Orphanet,488650,ORPHA:488650,1,CAV3,"[LGMD1C, LQT9, M-caveolin, VIP-21, VIP21]",caveolin 3,gene with protein product,3p25.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:11805270, PMID:18930476]",601253,ENSG00000182533,,P56539,P56539,HGNC:1529 +GARD:0017902,Orphanet,494344,ORPHA:494344,1,RERE,"[ARG, ARP, ATN2, DNB1, KIAA0458, atrophin 2]",arginine-glutamic acid dipeptide repeats,gene with protein product,1p36.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27087320],605226,ENSG00000142599,,Q9P2R6,Q9P2R6,HGNC:9965 +GARD:0017903,Orphanet,494439,ORPHA:494439,1,EXOSC2,"[RRP4, Rrp4p, hRrp4p, homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4), p7]",exosome component 2,gene with protein product,9q34.12,Disease-causing germline mutation(s) in,Assessed,[PMID:26843489],602238,ENSG00000130713,,Q13868,Q13868,HGNC:17097 +GARD:0017904,Orphanet,494444,ORPHA:494444,1,DIAPH1,"[LFHL1, hDIA1]",diaphanous related formin 1,gene with protein product,5q31.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:26912466, PMID:27808407]",602121,ENSG00000131504,,O60610,O60610,HGNC:2876 +GARD:0017905,Orphanet,494526,ORPHA:494526,1,PDE10A,"[cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A]",phosphodiesterase 10A,gene with protein product,6q27,Disease-causing germline mutation(s) in,Assessed,[PMID:27058446],610652,ENSG00000112541,1310,Q9Y233,Q9Y233,HGNC:8772 +GARD:0017906,Orphanet,494541,ORPHA:494541,1,PDE10A,"[cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A]",phosphodiesterase 10A,gene with protein product,6q27,Disease-causing germline mutation(s) in,Assessed,"[PMID:27058446, PMID:27058447]",610652,ENSG00000112541,1310,Q9Y233,Q9Y233,HGNC:8772 +GARD:0017907,Orphanet,494547,ORPHA:494547,3,ING1,"[growth inhibitor ING1, growth inhibitory protein ING1, inhibitor of growth 1, p24ING1c, p33, p33ING1, p33ING1b, p47, p47ING1a, tumor suppressor ING1]",inhibitor of growth family member 1,gene with protein product,13q34,Disease-causing somatic mutation(s) in,Assessed,[PMID:10866301],601566,ENSG00000153487,,Q9UK53,Q9UK53,HGNC:6062 +GARD:0017907,Orphanet,494547,ORPHA:494547,3,TNFRSF10B,"[CD262, DR5, KILLER, TRAIL-R2, TRAILR2, TRICK2A, TRICKB]",TNF receptor superfamily member 10b,gene with protein product,8p21.3,Major susceptibility factor in,Assessed,[PMID:9721831],603612,ENSG00000120889,1880,O14763,O14763,HGNC:11905 +GARD:0017907,Orphanet,494547,ORPHA:494547,3,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing somatic mutation(s) in,Assessed,[PMID:11801303],601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0017908,Orphanet,494550,ORPHA:494550,3,ING1,"[growth inhibitor ING1, growth inhibitory protein ING1, inhibitor of growth 1, p24ING1c, p33, p33ING1, p33ING1b, p47, p47ING1a, tumor suppressor ING1]",inhibitor of growth family member 1,gene with protein product,13q34,Disease-causing somatic mutation(s) in,Assessed,[PMID:10866301],601566,ENSG00000153487,,Q9UK53,Q9UK53,HGNC:6062 +GARD:0017908,Orphanet,494550,ORPHA:494550,3,TNFRSF10B,"[CD262, DR5, KILLER, TRAIL-R2, TRAILR2, TRICK2A, TRICKB]",TNF receptor superfamily member 10b,gene with protein product,8p21.3,Major susceptibility factor in,Assessed,[PMID:9721831],603612,ENSG00000120889,1880,O14763,O14763,HGNC:11905 +GARD:0017908,Orphanet,494550,ORPHA:494550,3,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing somatic mutation(s) in,Assessed,[PMID:11801303],601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0017909,Orphanet,495274,ORPHA:495274,1,MME,"[CALLA, CD10, NEP, enkephalinase, neprilysin, neutral endopeptidase]",membrane metalloendopeptidase,gene with protein product,3q25.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26991897],120520,ENSG00000196549,1611,P08473,P08473,HGNC:7154 +GARD:0017910,Orphanet,495844,ORPHA:495844,1,HIKESHI,"[HSPC138, HSPC179, OPI10]",heat shock protein nuclear import factor hikeshi,gene with protein product,11q14.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:26545878, PMID:28000699]",614908,ENSG00000149196,,Q53FT3,Q53FT3,HGNC:26938 +GARD:0017911,Orphanet,496641,ORPHA:496641,1,TBCD,,tubulin folding cofactor D,gene with protein product,17q25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:27666370, PMID:27666374, PMID:27807845]",604649,ENSG00000141556,,Q9BTW9,Q9BTW9,HGNC:11581 +GARD:0017912,Orphanet,496686,ORPHA:496686,1,KY,[FLJ33207],kyphoscoliosis peptidase,gene with protein product,3q22.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:27484770, PMID:27485408]",605739,ENSG00000174611,,Q8NBH2,,HGNC:26576 +GARD:0017913,Orphanet,496751,ORPHA:496751,1,HSPA9,"[75 kDa glucose-regulated protein, GRP75, PBP74, Stress-70 protein, mitochondrial, mortalin, mortalin2, mot-2, mthsp75]",heat shock protein family A (Hsp70) member 9,gene with protein product,5q31.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:10424819, PMID:26598328]",600548,ENSG00000113013,,P38646,P38646,HGNC:5244 +GARD:0017914,Orphanet,496756,ORPHA:496756,1,TBCE,"[KCS1, pac2]",tubulin folding cofactor E,gene with protein product,1q42.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27666369],604934,ENSG00000284770,,Q15813,Q15813,HGNC:11582 +GARD:0017915,Orphanet,496790,ORPHA:496790,1,ATAD3A,[FLJ10709],ATPase family AAA domain containing 3A,gene with protein product,1p36.33,Disease-causing germline mutation(s) in,Assessed,[PMID:27640307],612316,ENSG00000197785,,Q9NVI7,Q9NVI7,HGNC:25567 +GARD:0017916,Orphanet,497757,ORPHA:497757,1,MME,"[CALLA, CD10, NEP, enkephalinase, neprilysin, neutral endopeptidase]",membrane metalloendopeptidase,gene with protein product,3q25.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27588448],120520,ENSG00000196549,1611,P08473,P08473,HGNC:7154 +GARD:0017917,Orphanet,497764,ORPHA:497764,1,MME,"[CALLA, CD10, NEP, enkephalinase, neprilysin, neutral endopeptidase]",membrane metalloendopeptidase,gene with protein product,3q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27583304],120520,ENSG00000196549,1611,P08473,P08473,HGNC:7154 +GARD:0017918,Orphanet,497906,ORPHA:497906,1,VAC14,"[ArPIKfyve, FLJ10305]",VAC14 component of PIKFYVE complex,gene with protein product,16q22.1-q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27292112],604632,ENSG00000103043,,Q08AM6,Q08AM6,HGNC:25507 +GARD:0017919,Orphanet,498497,ORPHA:498497,1,WDR35,"[FAP118, IFT121, IFTA1, KIAA1336, MGC33196]",WD repeat domain 35,gene with protein product,2p24.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:17935248, PMID:21473986]",613602,ENSG00000118965,,Q9P2L0,Q9P2L0,HGNC:29250 +GARD:0017920,Orphanet,500055,ORPHA:500055,1,USP7,,ubiquitin specific peptidase 7,gene with protein product,16p13.2,Role in the phenotype of,Assessed,[PMID:26365382],602519,ENSG00000187555,,Q93009,Q93009,HGNC:12630 +GARD:0017921,Orphanet,500095,ORPHA:500095,1,FIBP,[FGFIBP],FGF1 intracellular binding protein,gene with protein product,11q13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27183861],608296,ENSG00000172500,,O43427,O43427,HGNC:3705 +GARD:0017922,Orphanet,500135,ORPHA:500135,1,CEP55,"[CT111, FLJ10540, cancer/testis antigen 111]",centrosomal protein 55,gene with protein product,10q23.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28264986],610000,ENSG00000138180,,Q53EZ4,Q53EZ4,HGNC:1161 +GARD:0017923,Orphanet,500144,ORPHA:500144,1,TRAPPC12,"[CGI-87, TTC-15]",trafficking protein particle complex subunit 12,gene with protein product,2p25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28777934],614139,ENSG00000171853,,Q8WVT3,Q8WVT3,HGNC:24284 +GARD:0017924,Orphanet,500159,ORPHA:500159,1,RAC1,"[Rac-1, TC-25, p21-Rac1]",Rac family small GTPase 1,gene with protein product,7p22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28886345],602048,ENSG00000136238,,P63000,P63000,HGNC:9801 +GARD:0017925,Orphanet,500166,ORPHA:500166,2,SIN3A,"[DKFZP434K2235, KIAA0700]",SIN3 transcription regulator family member A,gene with protein product,15q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27399968],607776,ENSG00000169375,,Q96ST3,Q96ST3,HGNC:19353 +GARD:0017925,Orphanet,500166,ORPHA:500166,2,SIN3B,,SIN3 transcription regulator family member B,gene with protein product,19p13.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:33811806],607777,ENSG00000127511,,O75182,,HGNC:19354 +GARD:0017926,Orphanet,500188,ORPHA:500188,1,GPRASP2,"[FLJ37327, GASP2]",G protein-coupled receptor associated sorting protein 2,gene with protein product,Xq22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28096187],300969,ENSG00000158301,,Q96D09,Q96D09,HGNC:25169 +GARD:0017927,Orphanet,500464,ORPHA:500464,3,ING1,"[growth inhibitor ING1, growth inhibitory protein ING1, inhibitor of growth 1, p24ING1c, p33, p33ING1, p33ING1b, p47, p47ING1a, tumor suppressor ING1]",inhibitor of growth family member 1,gene with protein product,13q34,Disease-causing somatic mutation(s) in,Assessed,[PMID:10866301],601566,ENSG00000153487,,Q9UK53,Q9UK53,HGNC:6062 +GARD:0017927,Orphanet,500464,ORPHA:500464,3,TNFRSF10B,"[CD262, DR5, KILLER, TRAIL-R2, TRAILR2, TRICK2A, TRICKB]",TNF receptor superfamily member 10b,gene with protein product,8p21.3,Major susceptibility factor in,Assessed,[PMID:9721831],603612,ENSG00000120889,1880,O14763,O14763,HGNC:11905 +GARD:0017927,Orphanet,500464,ORPHA:500464,3,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing somatic mutation(s) in,Assessed,[PMID:11801303],601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0017928,Orphanet,500478,ORPHA:500478,3,ING1,"[growth inhibitor ING1, growth inhibitory protein ING1, inhibitor of growth 1, p24ING1c, p33, p33ING1, p33ING1b, p47, p47ING1a, tumor suppressor ING1]",inhibitor of growth family member 1,gene with protein product,13q34,Disease-causing somatic mutation(s) in,Assessed,[PMID:10866301],601566,ENSG00000153487,,Q9UK53,Q9UK53,HGNC:6062 +GARD:0017928,Orphanet,500478,ORPHA:500478,3,TNFRSF10B,"[CD262, DR5, KILLER, TRAIL-R2, TRAILR2, TRICK2A, TRICKB]",TNF receptor superfamily member 10b,gene with protein product,8p21.3,Major susceptibility factor in,Assessed,[PMID:9721831],603612,ENSG00000120889,1880,O14763,O14763,HGNC:11905 +GARD:0017928,Orphanet,500478,ORPHA:500478,3,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing somatic mutation(s) in,Assessed,[PMID:11801303],601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0017929,Orphanet,500481,ORPHA:500481,4,ING1,"[growth inhibitor ING1, growth inhibitory protein ING1, inhibitor of growth 1, p24ING1c, p33, p33ING1, p33ING1b, p47, p47ING1a, tumor suppressor ING1]",inhibitor of growth family member 1,gene with protein product,13q34,Disease-causing somatic mutation(s) in,Assessed,[PMID:10866301],601566,ENSG00000153487,,Q9UK53,Q9UK53,HGNC:6062 +GARD:0017929,Orphanet,500481,ORPHA:500481,4,PRKD1,"[PKC-mu, PKCM, PKD]",protein kinase D1,gene with protein product,14q12,Disease-causing somatic mutation(s) in,Assessed,[PMID:25240283],605435,ENSG00000184304,1489,Q15139,Q15139,HGNC:9407 +GARD:0017929,Orphanet,500481,ORPHA:500481,4,TNFRSF10B,"[CD262, DR5, KILLER, TRAIL-R2, TRAILR2, TRICK2A, TRICKB]",TNF receptor superfamily member 10b,gene with protein product,8p21.3,Major susceptibility factor in,Assessed,[PMID:9721831],603612,ENSG00000120889,1880,O14763,O14763,HGNC:11905 +GARD:0017929,Orphanet,500481,ORPHA:500481,4,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing somatic mutation(s) in,Assessed,[PMID:11801303],601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0017930,Orphanet,500545,ORPHA:500545,1,NACC1,"[BEN domain containing 8, BEND8, BTBD30, NAC-1, NAC1]",nucleus accumbens associated 1,gene with protein product,19p13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:28132692],610672,ENSG00000160877,,Q96RE7,Q96RE7,HGNC:20967 +GARD:0017931,Orphanet,500548,ORPHA:500548,1,LRRK1,"[FLJ23119, KIAA1790, RIPK6, ROCO1, Roco1]",leucine rich repeat kinase 1,gene with protein product,15q26.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27829680],610986,ENSG00000154237,2058,Q38SD2,Q38SD2,HGNC:18608 +GARD:0017932,Orphanet,502363,ORPHA:502363,3,ING1,"[growth inhibitor ING1, growth inhibitory protein ING1, inhibitor of growth 1, p24ING1c, p33, p33ING1, p33ING1b, p47, p47ING1a, tumor suppressor ING1]",inhibitor of growth family member 1,gene with protein product,13q34,Disease-causing somatic mutation(s) in,Assessed,[PMID:10866301],601566,ENSG00000153487,,Q9UK53,Q9UK53,HGNC:6062 +GARD:0017932,Orphanet,502363,ORPHA:502363,3,TNFRSF10B,"[CD262, DR5, KILLER, TRAIL-R2, TRAILR2, TRICK2A, TRICKB]",TNF receptor superfamily member 10b,gene with protein product,8p21.3,Major susceptibility factor in,Assessed,[PMID:9721831],603612,ENSG00000120889,1880,O14763,O14763,HGNC:11905 +GARD:0017932,Orphanet,502363,ORPHA:502363,3,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing somatic mutation(s) in,Assessed,[PMID:11801303],601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0017933,Orphanet,502366,ORPHA:502366,3,ING1,"[growth inhibitor ING1, growth inhibitory protein ING1, inhibitor of growth 1, p24ING1c, p33, p33ING1, p33ING1b, p47, p47ING1a, tumor suppressor ING1]",inhibitor of growth family member 1,gene with protein product,13q34,Disease-causing somatic mutation(s) in,Assessed,[PMID:10866301],601566,ENSG00000153487,,Q9UK53,Q9UK53,HGNC:6062 +GARD:0017933,Orphanet,502366,ORPHA:502366,3,TNFRSF10B,"[CD262, DR5, KILLER, TRAIL-R2, TRAILR2, TRICK2A, TRICKB]",TNF receptor superfamily member 10b,gene with protein product,8p21.3,Major susceptibility factor in,Assessed,[PMID:9721831],603612,ENSG00000120889,1880,O14763,O14763,HGNC:11905 +GARD:0017933,Orphanet,502366,ORPHA:502366,3,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing somatic mutation(s) in,Assessed,[PMID:11801303],601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0017934,Orphanet,502423,ORPHA:502423,1,MSTO1,"[FLJ10504, LST005, MST, misato]",misato mitochondrial distribution and morphology regulator 1,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:28544275],617619,ENSG00000125459,,Q9BUK6,,HGNC:29678 +GARD:0017935,Orphanet,502434,ORPHA:502434,1,STAG1,"[SA-1, SA1, SCC3A, cohesin subunit SA-1]",stromal antigen 1,gene with protein product,3q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28119487],604358,ENSG00000118007,,Q8WVM7,Q8WVM7,HGNC:11354 +GARD:0017936,Orphanet,502444,ORPHA:502444,1,ACER3,"[APHC, FLJ11238, alkaline phytoceramidase]",alkaline ceramidase 3,gene with protein product,11q13.5,Disease-causing germline mutation(s) in,Assessed,[PMID:26792856],617036,ENSG00000078124,2470,Q9NUN7,Q9NUN7,HGNC:16066 +GARD:0017937,Orphanet,504476,ORPHA:504476,1,RFC1,"[A1, MHCBFB, PO-GA, RFC140]",replication factor C subunit 1,gene with protein product,4p14,Disease-causing germline mutation(s) in,Assessed,[PMID:30926972],102579,ENSG00000035928,,P35251,P35251,HGNC:9969 +GARD:0017938,Orphanet,504523,ORPHA:504523,1,LAT,"[LAT1, linker for activation of T cells, transmembrane adaptor]",linker for activation of T cells,gene with protein product,16q13,Disease-causing germline mutation(s) in,Assessed,[PMID:27522155],602354,ENSG00000213658,,O43561,O43561,HGNC:18874 +GARD:0017939,Orphanet,504530,ORPHA:504530,1,MSN,,moesin,gene with protein product,Xq12,Disease-causing germline mutation(s) in,Assessed,[PMID:27405666],309845,ENSG00000147065,,P26038,P26038,HGNC:7373 +GARD:0017940,Orphanet,505216,ORPHA:505216,1,TIMM50,"[TIM50, TIM50L]",translocase of inner mitochondrial membrane 50,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27573165],607381,ENSG00000105197,,Q3ZCQ8,Q3ZCQ8,HGNC:23656 +GARD:0017941,Orphanet,505227,ORPHA:505227,1,GINS1,"[KIAA0186, PSF1]",GINS complex subunit 1,gene with protein product,20p11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28414293],610608,ENSG00000101003,,Q14691,Q14691,HGNC:28980 +GARD:0017942,Orphanet,505237,ORPHA:505237,1,OTUD6B,"[CGI-77, DUBA5]",OTU deubiquitinase 6B,gene with protein product,8q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28343629],612021,ENSG00000155100,,Q8N6M0,,HGNC:24281 +GARD:0017943,Orphanet,505242,ORPHA:505242,1,SLC30A9,"[GAC63, GRIP1-dependent nuclear receptor coactivator, HUEL, ZNT9]",solute carrier family 30 member 9,gene with protein product,4p13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28334855],604604,ENSG00000014824,1129,Q6PML9,,HGNC:1329 +GARD:0017944,Orphanet,505248,ORPHA:505248,1,VPS33A,,VPS33A core subunit of CORVET and HOPS complexes,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:28013294],610034,ENSG00000139719,,Q96AX1,,HGNC:18179 +GARD:0017945,Orphanet,506307,ORPHA:506307,1,CENPF,"[hcp-1, mitosin]",centromere protein F,gene with protein product,1q41,Disease-causing germline mutation(s) in,Assessed,"[PMID:25564561, PMID:26820108]",600236,ENSG00000117724,,P49454,P49454,HGNC:1857 +GARD:0017946,Orphanet,506353,ORPHA:506353,1,SELENOI,"[KIAA1724, SELI, SEPI]",selenoprotein I,gene with protein product,2p23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28052917],607915,ENSG00000138018,,Q9C0D9,Q9C0D9,HGNC:29361 +GARD:0017947,Orphanet,506358,ORPHA:506358,1,YY1,"[DELTA, INO80 complex subunit S, INO80S, NF-E1, UCRBP, YIN-YANG-1, Yin and Yang 1 protein]",YY1 transcription factor,gene with protein product,14q32.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28575647],600013,ENSG00000100811,,P25490,P25490,HGNC:12856 +GARD:0017948,Orphanet,508498,ORPHA:508498,1,PUF60,"[FBP interacting repressor, FIR, Ro ribonucleoprotein binding protein 1, RoBPI, SIAHBP1, pyrimidine tract binding splicing factor, siah binding protein 1]",poly(U) binding splicing factor 60,gene with protein product,8q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:27804958, PMID:28327570]",604819,ENSG00000179950,,Q9UHX1,Q9UHX1,HGNC:17042 +GARD:0017949,Orphanet,508512,ORPHA:508512,2,RMI2,"[BLAP18, MGC24665]",RecQ mediated genome instability 2,gene with protein product,16p13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:27977684],612426,ENSG00000175643,,Q96E14,Q96E14,HGNC:28349 +GARD:0017949,Orphanet,508512,ORPHA:508512,2,TOP3A,"[ZGRF7, zinc finger, GRF-type containing 7]",DNA topoisomerase III alpha,gene with protein product,17p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30057030],601243,ENSG00000177302,,Q13472,Q13472,HGNC:11992 +GARD:0017950,Orphanet,508523,ORPHA:508523,1,DNAJC12,"[J domain protein 1, JDP1]",DnaJ heat shock protein family (Hsp40) member C12,gene with protein product,10q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28132689],606060,ENSG00000108176,,Q9UKB3,,HGNC:28908 +GARD:0017951,Orphanet,508529,ORPHA:508529,1,KLHL24,"[DRE1, FLJ20059]",kelch like family member 24,gene with protein product,3q27.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:27798626, PMID:27889062, PMID:28532758, PMID:29574966]",611295,ENSG00000114796,,Q6TFL4,Q6TFL4,HGNC:25947 +GARD:0017952,Orphanet,513436,ORPHA:513436,1,ATP13A2,"[CLN12, HSA9947]",ATPase cation transporting 13A2,gene with protein product,1p36.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:27217339, PMID:28137957, PMID:29112700]",610513,ENSG00000159363,3156,Q9NQ11,Q9NQ11,HGNC:30213 +GARD:0017953,Orphanet,513456,ORPHA:513456,1,WDR26,"[FLJ21016, GID complex subunit 7 homolog (S. cerevisiae), GID7]",WD repeat domain 26,gene with protein product,1q42.11-q42.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28686853],617424,ENSG00000162923,,Q9H7D7,Q9H7D7,HGNC:21208 +GARD:0017954,Orphanet,519388,ORPHA:519388,1,CPAMD8,"[K-CAP, KIAA1283, VIP]",C3 and PZP like alpha-2-macroglobulin domain containing 8,gene with protein product,19p13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:27839872],608841,ENSG00000160111,,Q8IZJ3,,HGNC:23228 +GARD:0017955,Orphanet,521258,ORPHA:521258,1,STAG2,"[SA-2, SA2, SCC3B]",stromal antigen 2,gene with protein product,Xq25,Role in the phenotype of,Assessed,"[PMID:25677961, PMID:26443594]",300826,ENSG00000101972,,Q8N3U4,Q8N3U4,HGNC:11355 +GARD:0017956,Orphanet,521305,ORPHA:521305,1,CHKB,[CHETK],choline kinase beta,gene with protein product,22q13.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:26782016, PMID:27169979]",612395,ENSG00000100288,,Q9Y259,Q9Y259,HGNC:1938 +GARD:0017957,Orphanet,521390,ORPHA:521390,1,KIDINS220,"[ARMS, ankyrin repeat-rich membrane-spanning protein]",kinase D interacting substrate 220,gene with protein product,2p25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27005418],615759,ENSG00000134313,,Q9ULH0,Q9ULH0,HGNC:29508 +GARD:0017958,Orphanet,521406,ORPHA:521406,1,SLC39A14,"[KIAA0062, NET34, ZIP14]",solute carrier family 39 member 14,gene with protein product,8p21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:27231142, PMID:29382362, PMID:29685658]",608736,ENSG00000104635,1193,Q15043,Q15043,HGNC:20858 +GARD:0017959,Orphanet,521414,ORPHA:521414,1,ATP1A1,"[sodium pump subunit alpha-1, sodium-potassium ATPase catalytic subunit alpha-1, sodium/potassium-transporting ATPase subunit alpha-1]",ATPase Na+/K+ transporting subunit alpha 1,gene with protein product,1p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29499166],182310,ENSG00000163399,833,P05023,P05023,HGNC:799 +GARD:0017960,Orphanet,521426,ORPHA:521426,1,PLAA,"[DOA1, DOA1 homolog (S. cerevisiae), FLJ11281, FLJ12699, PLA2P, PLAP]",phospholipase A2 activating protein,gene with protein product,9p21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:28007986, PMID:28413018]",603873,ENSG00000137055,,Q9Y263,,HGNC:9043 +GARD:0017961,Orphanet,521438,ORPHA:521438,3,HAAO,,"3-hydroxyanthranilate 3,4-dioxygenase",gene with protein product,2p21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28792876],604521,ENSG00000162882,,P46952,P46952,HGNC:4796 +GARD:0017961,Orphanet,521438,ORPHA:521438,3,KYNU,[L-kynurenine hydrolase],kynureninase,gene with protein product,2q22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28792876],605197,ENSG00000115919,,Q16719,Q16719,HGNC:6469 +GARD:0017961,Orphanet,521438,ORPHA:521438,3,NADSYN1,[FLJ10631],NAD synthetase 1,gene with protein product,11q13.4,Disease-causing germline mutation(s) in,Assessed,[PMID:31883644],608285,ENSG00000172890,,Q6IA69,Q6IA69,HGNC:29832 +GARD:0017962,Orphanet,522077,ORPHA:522077,1,SYT1,[P65],synaptotagmin 1,gene with protein product,12q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:25705886, PMID:30107533]",185605,ENSG00000067715,,P21579,P21579,HGNC:11509 +GARD:0017963,Orphanet,527450,ORPHA:527450,1,GZF1,"[ZBTB23, dJ322G13.2]",GDNF inducible zinc finger protein 1,gene with protein product,20p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:28475863],613842,ENSG00000125812,,Q9H116,Q9H116,HGNC:15808 +GARD:0017964,Orphanet,527497,ORPHA:527497,1,NKX6-2,"[GTX, NKX6.1, NKX6B]",NK6 homeobox 2,gene with protein product,10q26.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28575651],605955,ENSG00000148826,,Q9C056,,HGNC:19321 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,PALS1,"[FLJ12615, protein associated with Lin-7 1, stardust]","protein associated with LIN7 1, MAGUK p55 family member",gene with protein product,14q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:33073849],606958,ENSG00000072415,,Q8N3R9,,HGNC:18669 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,DDX6,"[RCK, Rck/p54]",DEAD-box helicase 6,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31422817],600326,ENSG00000110367,,P26196,P26196,HGNC:2747 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,KAT8,"[FLJ14040, MOF, ZC2HC8, hMOF]",lysine acetyltransferase 8,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31794431],609912,ENSG00000103510,2668,Q9H7Z6,,HGNC:17933 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,SETD1A,"[KIAA0339, KMT2F, SET1A, Set1]","SET domain containing 1A, histone lysine methyltransferase",gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:32346159],611052,ENSG00000099381,2700,O15047,O15047,HGNC:29010 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,ZMIZ1,"[FLJ13541, KIAA1224, MIZ, RP11-519K18.1, Zimp10, hZIMP10]",zinc finger MIZ-type containing 1,gene with protein product,10q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30639322],607159,ENSG00000108175,,Q9ULJ6,,HGNC:16493 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,UBR7,,ubiquitin protein ligase E3 component n-recognin 7,gene with protein product,14q32.12,Disease-causing germline mutation(s) in,Assessed,[PMID:33340455],613816,ENSG00000012963,,Q8N806,,HGNC:20344 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,KCNMA1,"[BK channel alpha subunit, KCa1.1, big potassium channel alpha subunit, mSLO1, maxiK channel]",potassium calcium-activated channel subfamily M alpha 1,gene with protein product,10q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31152168],600150,ENSG00000156113,380,Q12791,Q12791,HGNC:6284 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,SVBP,[MGC45441],small vasohibin binding protein,gene with protein product,1p34.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30607023],617853,ENSG00000177868,,Q8N300,,HGNC:29204 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,TCF7L2,[TCF-4],transcription factor 7 like 2,gene with protein product,10q25.2-q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:34003604],602228,ENSG00000148737,,Q9NQB0,Q9NQB0,HGNC:11641 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,MADD,"[DENN, KIAA0358, RAB3GEP]",MAP kinase activating death domain,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:32761064],603584,ENSG00000110514,,Q8WXG6,,HGNC:6766 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,PTPN23,"[DKFZP564F0923, HD-PTP, KIAA1471]",protein tyrosine phosphatase non-receptor type 23,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:31395947],606584,ENSG00000076201,,Q9H3S7,Q9H3S7,HGNC:14406 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,SRCAP,"[DOMO1, Domino homolog 1 (Drosophila), EAF1, KIAA0309, SWR1, Swi2/Snf2-related ATPase homolog (S. cerevisiae), domino homolog 1 (Drosophila)]",Snf2 related CREBBP activator protein,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:33909990],611421,ENSG00000080603,,Q6ZRS2,,HGNC:16974 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,TBR1,,T-box brain transcription factor 1,gene with protein product,2q24.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:29288087, PMID:30268909]",604616,ENSG00000136535,,Q16650,,HGNC:11590 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,NTNG2,"[KIAA1857, Lmnt2, Netrin-G2]",netrin G2,gene with protein product,9q34.13,Disease-causing germline mutation(s) in,Assessed,[PMID:31668703],618689,ENSG00000196358,,Q96CW9,,HGNC:14288 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,HUWE1,"[Ib772, KIAA0312, UREB1]","HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1",gene with protein product,Xp11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:29180823],300697,ENSG00000086758,,Q7Z6Z7,Q7Z6Z7,HGNC:30892 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,ANKRD17,,ankyrin repeat domain 17,gene with protein product,4q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:33909992],615929,ENSG00000132466,,O75179,,HGNC:23575 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,SLC12A2,"[BSC, BSC2, NKCC1, PPP1R141, basolateral Na-K-Cl symporter, bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1, protein phosphatase 1, regulatory subunit 141]",solute carrier family 12 member 2,gene with protein product,5q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:32754646],600840,ENSG00000064651,969,P55011,P55011,HGNC:10911 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,GRIA4,"[GLURD, GluA4]",glutamate ionotropic receptor AMPA type subunit 4,gene with protein product,11q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29220673],138246,ENSG00000152578,447,P48058,P48058,HGNC:4574 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,DOCK3,"[KIAA0299, MOCA, PBP]",dedicator of cytokinesis 3,gene with protein product,3p21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30976111],603123,ENSG00000088538,,Q8IZD9,Q8IZD9,HGNC:2989 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,BAP1,"[KIAA0272, UCHL2, hucep-6, ubiquitin carboxy-terminal hydrolase]",BRCA1 associated protein 1,gene with protein product,3p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:35051358],603089,ENSG00000163930,2332,Q92560,Q92560,HGNC:950 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,SATB1,,SATB homeobox 1,gene with protein product,3p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:33513338],602075,ENSG00000182568,,Q01826,Q01826,HGNC:10541 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,LMBRD2,,LMBR1 domain containing 2,gene with protein product,5p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:32820033],619490,ENSG00000164187,,Q68DH5,,HGNC:25287 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,SYNCRIP,"[GRY-RBP, HNRNPQ, HNRPQ1, NSAP1, dJ3J17.2, heterogeneous nuclear ribonucleoprotein Q, hnRNP-Q]",synaptotagmin binding cytoplasmic RNA interacting protein,gene with protein product,6q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:34157790],616686,ENSG00000135316,,O60506,,HGNC:16918 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,DLG4,"[PSD-95, PSD95, SAP-90, SAP90]",discs large MAGUK scaffold protein 4,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:33597769],602887,ENSG00000132535,,P78352,P78352,HGNC:2903 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,FBXW11,"[BTRC2, BTRCP2, Fbw11, Fbw1b, Hos, KIAA0696]",F-box and WD repeat domain containing 11,gene with protein product,5q35.1,Disease-causing germline mutation(s) in,Assessed,[PMID:31402090],605651,ENSG00000072803,,Q9UKB1,Q9UKB1,HGNC:13607 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,BPTF,"[FAC1, NURF301]",bromodomain PHD finger transcription factor,gene with protein product,17q24.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28942966],601819,ENSG00000171634,2723,Q12830,Q12830,HGNC:3581 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,PUS7,[FLJ20485],pseudouridine synthase 7,gene with protein product,7q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30778726],616261,ENSG00000091127,,Q96PZ0,,HGNC:26033 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,ACTL6B,"[BAF53B, SMARCN2]",actin like 6B,gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:31031012],612458,ENSG00000077080,,O94805,O94805,HGNC:160 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,NTNG1,"[KIAA0976, Lmnt1, Netrin-G1, netrin G1f]",netrin G1,gene with protein product,1p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31668703],608818,ENSG00000162631,,Q9Y2I2,Q9Y2I2,HGNC:23319 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,TRAPPC4,"[PTD009, SBDN, TRS23]",trafficking protein particle complex subunit 4,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30690204],610971,ENSG00000196655,,Q9Y296,Q9Y296,HGNC:19943 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,AGO2,"[LINC00980, Q10, argonaute 2, hAGO2]","argonaute 2, RISC catalytic component",gene with protein product,8q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:33199684],606229,ENSG00000123908,,Q9UKV8,Q9UKV8,HGNC:3263 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,HTT,[IT15],huntingtin,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26740508],613004,ENSG00000197386,,P42858,P42858,HGNC:4851 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,HPDL,,4-hydroxyphenylpyruvate dioxygenase like,gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:32707086],618994,ENSG00000186603,,Q96IR7,,HGNC:28242 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,TRMT1,"[FLJ20244, TRM1]",tRNA methyltransferase 1,gene with protein product,19p13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:30289604],611669,ENSG00000104907,,Q9NXH9,Q9NXH9,HGNC:25980 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,TNRC6B,[KIAA1093],trinucleotide repeat containing adaptor 6B,gene with protein product,22q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:32152250],610740,ENSG00000100354,,Q9UPQ9,Q9UPQ9,HGNC:29190 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,TCF20,"[AR1, SPBP, stromelysin-1 platelet-derived growth factor-responsive element binding protein]",transcription factor 20,gene with protein product,22q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30909959],603107,ENSG00000100207,,Q9UGU0,,HGNC:11631 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,BCAS3,,BCAS3 microtubule associated cell migration factor,gene with protein product,17q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:34022130],607470,ENSG00000141376,,Q9H6U6,,HGNC:14347 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,ACTL6A,"[Actl6, Arp4, BAF complex 53 kDa subunit, BAF53A, BRG1-associated factor, BRG1-associated factor 53A, Baf53a, INO80 complex subunit K, INO80K, SMARCN1, actin-related protein 4]",actin like 6A,gene with protein product,3q26.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29728705],604958,ENSG00000136518,,O96019,O96019,HGNC:24124 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,EMC10,,ER membrane protein complex subunit 10,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:33531666],614545,ENSG00000161671,,Q5UCC4,,HGNC:27609 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,WASF1,"[KIAA0269, SCAR1, WAVE, WAVE1]",WASP family member 1,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,[PMID:29961568],605035,ENSG00000112290,,Q92558,,HGNC:12732 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,MED27,,mediator complex subunit 27,gene with protein product,9q34.13,Disease-causing germline mutation(s) in,Assessed,[PMID:33443317],605044,ENSG00000160563,,Q6P2C8,,HGNC:2377 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,RNF2,"[BAP-1, BAP1, DING, HIPI3, RING1B, RING2]",ring finger protein 2,gene with protein product,1q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:33864376],608985,ENSG00000121481,,Q99496,,HGNC:10061 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,HS2ST1,,heparan sulfate 2-O-sulfotransferase 1,gene with protein product,1p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:33159882],604844,ENSG00000153936,,Q7LGA3,,HGNC:5193 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,CNOT3,"[KIAA0691, LENG2, NOT3 (negative regulator of transcription 3, yeast) homolog, NOT3H]",CCR4-NOT transcription complex subunit 3,gene with protein product,19q13.42,Disease-causing germline mutation(s) in,Assessed,[PMID:31201375],604910,ENSG00000088038,,O75175,O75175,HGNC:7879 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,JARID2,,jumonji and AT-rich interaction domain containing 2,gene with protein product,6p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:33077894],601594,ENSG00000008083,,Q92833,,HGNC:6196 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,WDFY3,"[ALFY, KIAA0993, ZFYVE25]",WD repeat and FYVE domain containing 3,gene with protein product,4q21.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31327001],617485,ENSG00000163625,,Q8IZQ1,Q8IZQ1,HGNC:20751 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,MAPK8IP3,"[JIP3, JSAP1, KIAA1066, homolog of Drosophila Sunday driver 2, syd]",mitogen-activated protein kinase 8 interacting protein 3,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30612693],605431,ENSG00000138834,,Q9UPT6,,HGNC:6884 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,BCORL1,[FLJ11362],BCL6 corepressor like 1,gene with protein product,Xq26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30941876],300688,ENSG00000085185,,Q5H9F3,,HGNC:25657 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,KDM4B,"[KIAA0876, TDRD14B, tudor domain containing 14B]",lysine demethylase 4B,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:33232677],609765,ENSG00000127663,2676,O94953,,HGNC:29136 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,TANC2,"[DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, ROLSA, rolling pebbles homolog B (Drosophila), rols]","tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2",gene with protein product,17q23.2-q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31616000],615047,ENSG00000170921,,Q9HCD6,,HGNC:30212 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,DPYSL5,,dihydropyrimidinase like 5,gene with protein product,2p23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:33894126],608383,ENSG00000157851,,Q9BPU6,,HGNC:20637 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,TRIP12,"[E3 ubiquitin-protein ligase for Arf, KIAA0045, TRIPC, ULF]",thyroid hormone receptor interactor 12,gene with protein product,2q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28251352],604506,ENSG00000153827,,Q14669,Q14669,HGNC:12306 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,MED13,"[KIAA0593, TRAP240]",mediator complex subunit 13,gene with protein product,17q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:29740699],603808,ENSG00000108510,,Q9UHV7,Q9UHV7,HGNC:22474 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,CCDC32,[MGC20481],coiled-coil domain containing 32,gene with protein product,15q15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:32307552],618941,ENSG00000128891,,Q9BV29,,HGNC:28295 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,MYT1L,"[KIAA1106, NZF1, ZC2H2C2, ZC2HC4B, neural zinc finger transcription factor 1]",myelin transcription factor 1 like,gene with protein product,2p25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30055078],613084,ENSG00000186487,,Q9UL68,,HGNC:7623 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,MYT1L,"[KIAA1106, NZF1, ZC2H2C2, ZC2HC4B, neural zinc finger transcription factor 1]",myelin transcription factor 1 like,gene with protein product,2p25.3,Role in the phenotype of,Assessed,[PMID:30055078],613084,ENSG00000186487,,Q9UL68,,HGNC:7623 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,MAN2C1,,mannosidase alpha class 2C member 1,gene with protein product,15q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:35045343],154580,ENSG00000140400,,Q9NTJ4,Q9NTJ4,HGNC:6827 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,PSMD12,"[Rpn5, p55]","proteasome 26S subunit, non-ATPase 12",gene with protein product,17q24.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:28132691, PMID:30421579]",604450,ENSG00000197170,,O00232,O00232,HGNC:9557 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,RLIM,"[E3 ubiquitin-protein ligase RLIM, LIM domain interacting ring finger protein, MGC15161, NY-REN-43, ring zinc finger protein NY-REN-43antigen]","ring finger protein, LIM domain interacting",gene with protein product,Xq13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:25644381, PMID:29728705]",300379,ENSG00000131263,,Q9NVW2,Q9NVW2,HGNC:13429 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,CLCN3,,chloride voltage-gated channel 3,gene with protein product,4q33,Disease-causing germline mutation(s) in,Assessed,[PMID:34186028],600580,ENSG00000109572,702,P51790,,HGNC:2021 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,KMT2E,[HDCMC04P],lysine methyltransferase 2E (inactive),gene with protein product,7q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31079897],608444,ENSG00000005483,2692,Q8IZD2,Q8IZD2,HGNC:18541 +GARD:0017965,Orphanet,528084,ORPHA:528084,61,SPTBN1,,"spectrin beta, non-erythrocytic 1",gene with protein product,2p16.2,Disease-causing germline mutation(s) in,Assessed,[PMID:34211179],182790,ENSG00000115306,,Q01082,,HGNC:11275 +GARD:0017966,Orphanet,528091,ORPHA:528091,1,LARS2,"['leucine tRNA ligase 2, mitochondrial', KIAA0028, LEURS, Leucine tRNA ligase 2, mitochondrial, MGC26121, mtLeuRS]","leucyl-tRNA synthetase 2, mitochondrial",gene with protein product,3p21.31,Candidate gene tested in,Not yet assessed,[PMID:26537577],604544,ENSG00000011376,,Q15031,Q15031,HGNC:17095 +GARD:0017967,Orphanet,528105,ORPHA:528105,1,CLDN10,"[CPETRL3, OSP-L]",claudin 10,gene with protein product,13q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28674042],617579,ENSG00000134873,,P78369,P78369,HGNC:2033 +GARD:0017968,Orphanet,529574,ORPHA:529574,1,MAFB,,MAF bZIP transcription factor B,gene with protein product,20q12,Disease-causing germline mutation(s) in,Assessed,[PMID:27181683],608968,ENSG00000204103,,Q9Y5Q3,Q9Y5Q3,HGNC:6408 +GARD:0017969,Orphanet,529665,ORPHA:529665,1,GPAA1,"[GAA1, GPI transamidase subunit, hGAA1]",glycosylphosphatidylinositol anchor attachment 1,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29100095],603048,ENSG00000197858,,O43292,O43292,HGNC:4446 +GARD:0017970,Orphanet,529965,ORPHA:529965,1,CHD1,,chromodomain helicase DNA binding protein 1,gene with protein product,5q15-q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28866611],602118,ENSG00000153922,,O14646,,HGNC:1915 +GARD:0017971,Orphanet,529970,ORPHA:529970,2,SUN5,"[TSARG4, dJ726C3.1, testis and spermatogenesis related gene 4]",Sad1 and UNC84 domain containing 5,gene with protein product,20q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:27640305],613942,ENSG00000167098,,Q8TC36,,HGNC:16252 +GARD:0017971,Orphanet,529970,ORPHA:529970,2,PMFBP1,,polyamine modulated factor 1 binding protein 1,gene with protein product,16q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30032984],618085,ENSG00000118557,,Q8TBY8,Q8TBY8,HGNC:17728 +GARD:0017973,Orphanet,535458,ORPHA:535458,1,GPIHBP1,"[GPI-HBP1, LOC338328, endothelial cell LPL transporter]",glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:25732519, PMID:29980054]",612757,ENSG00000277494,,Q8IV16,Q8IV16,HGNC:24945 +GARD:0017974,Orphanet,536467,ORPHA:536467,1,B3GALT6,"[beta-1,3-galactosyltransferase-6, beta3GalT6]","beta-1,3-galactosyltransferase 6",gene with protein product,1p36.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23664117],615291,ENSG00000176022,,Q96L58,Q96L58,HGNC:17978 +GARD:0017975,Orphanet,536532,ORPHA:536532,1,AEBP1,"[ACLP, adipocyte enhancer binding protein 1, aortic carboxypeptidase-like protein]",AE binding protein 1,gene with protein product,7p13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30759870],602981,ENSG00000106624,1586,Q8IUX7,,HGNC:303 +GARD:0017977,Orphanet,538574,ORPHA:538574,2,KRT1,[KRT1A],keratin 1,gene with protein product,12q13.13,Modifying germline mutation in,Assessed,[PMID:27639257],139350,ENSG00000167768,,P04264,P04264,HGNC:6412 +GARD:0017977,Orphanet,538574,ORPHA:538574,2,MPZ,"[CMT2I, CMT2J, HMSNIB, P0]",myelin protein zero,gene with protein product,1q23.3,Modifying germline mutation in,Assessed,[PMID:27639257],159440,ENSG00000158887,,P25189,,HGNC:7225 +GARD:0017978,Orphanet,538958,ORPHA:538958,1,CD70,[CD27L],CD70 molecule,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:28011863, PMID:28011864, PMID:29434583]",602840,ENSG00000125726,,P32970,P32970,HGNC:11937 +GARD:0017979,Orphanet,538963,ORPHA:538963,1,ITK,"[EMT, LYK, PSCTK2]",IL2 inducible T cell kinase,gene with protein product,5q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19425169],186973,ENSG00000113263,2046,Q08881,Q08881,HGNC:6171 +GARD:0017980,Orphanet,541423,ORPHA:541423,1,IARS1,"[IARS1, ILRS, isoleucine tRNA ligase 1, cytoplasmic]",isoleucyl-tRNA synthetase 1,gene with protein product,9q22.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:27426735, PMID:29052218]",600709,ENSG00000196305,,P41252,P41252,HGNC:5330 +GARD:0017981,Orphanet,542301,ORPHA:542301,1,CARMIL2,"[LRRC16C, RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein, leucine rich repeat containing 16C]",capping protein regulator and myosin 1 linker 2,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:27896283, PMID:29226302]",610859,ENSG00000159753,,Q6F5E8,,HGNC:27089 +GARD:0017982,Orphanet,542306,ORPHA:542306,1,GNB5,"[GB5, Guanine nucleotide-binding protein subunit beta-5, Transducin beta chain 5]",G protein subunit beta 5,gene with protein product,15q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:27523599, PMID:30631341]",604447,ENSG00000069966,,O14775,O14775,HGNC:4401 +GARD:0017983,Orphanet,542585,ORPHA:542585,1,FDXR,"[ADR, adrenodoxin reductase, adrenodoxin-NADP(+) reductase]",ferredoxin reductase,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28965846],103270,ENSG00000161513,,P22570,P22570,HGNC:3642 +GARD:0017984,Orphanet,542657,ORPHA:542657,1,CA12,[HsT18816],carbonic anhydrase 12,gene with protein product,15q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21035102],603263,ENSG00000074410,2747,O43570,O43570,HGNC:1371 +GARD:0017985,Orphanet,544469,ORPHA:544469,1,PRUNE1,"[DRES-17, H-PRUNE, HTCD37]",prune exopolyphosphatase 1,gene with protein product,1q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30556349],617413,ENSG00000143363,,Q86TP1,,HGNC:13420 +GARD:0017986,Orphanet,544472,ORPHA:544472,6,CD46,"[MGC26544, TLX, TRA2.10]",CD46 molecule,gene with protein product,1q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301541],120920,ENSG00000117335,,P15529,P15529,HGNC:6953 +GARD:0017986,Orphanet,544472,ORPHA:544472,6,C3,"[ARMD9, C3a, C3a anaphylatoxin, C3b, CPAMD1, complement component C3a, complement component C3b, prepro-C3]",complement C3,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301541],120700,ENSG00000125730,,P01024,P01024,HGNC:1318 +GARD:0017986,Orphanet,544472,ORPHA:544472,6,THBD,"[BDCA-3, CD141, THRM, fetomodulin]",thrombomodulin,gene with protein product,20p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:20301541],188040,ENSG00000178726,,P07204,P07204,HGNC:11784 +GARD:0017986,Orphanet,544472,ORPHA:544472,6,CFB,[H2-Bf],complement factor B,gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20301541],138470,ENSG00000243649,2339,P00751,P00751,HGNC:1037 +GARD:0017986,Orphanet,544472,ORPHA:544472,6,CFI,"[C3b-INA, C3b-inactivator, FI, KAF, Konglutinogen-activating factor]",complement factor I,gene with protein product,4q25,Disease-causing germline mutation(s) in,Assessed,[PMID:20301541],217030,ENSG00000205403,,P05156,P05156,HGNC:5394 +GARD:0017986,Orphanet,544472,ORPHA:544472,6,CFH,"[ARMD4, ARMS1, FHL1, H factor 2 (complement), HUS, age-related maculopathy susceptibility 1, beta-1H]",complement factor H,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301541],134370,ENSG00000000971,,P08603,P08603,HGNC:4883 +GARD:0017987,Orphanet,544488,ORPHA:544488,1,ODC1,[ODC],ornithine decarboxylase 1,gene with protein product,2p25.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:30239107, PMID:30475435, PMID:30544565]",165640,ENSG00000115758,1276,P11926,P11926,HGNC:8109 +GARD:0017988,Orphanet,544503,ORPHA:544503,1,RNF13,[RZF],ring finger protein 13,gene with protein product,3q25.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:30595371],609247,ENSG00000082996,,O43567,O43567,HGNC:10057 +GARD:0017989,Orphanet,544602,ORPHA:544602,1,MYL1,,myosin light chain 1,gene with protein product,2q34,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30215711],160780,ENSG00000168530,,P05976,P05976,HGNC:7582 +GARD:0017990,Orphanet,555402,ORPHA:555402,1,NAXD,"[ATP-dependent NAD(P)H-hydrate dehydratase, FLJ10769, LP3298]",NAD(P)HX dehydratase,gene with protein product,13q34,Disease-causing germline mutation(s) in,Assessed,[PMID:30576410],615910,ENSG00000213995,,Q8IW45,Q8IW45,HGNC:25576 +GARD:0017991,Orphanet,555407,ORPHA:555407,1,NAXE,"[AIBP, MGC119143, MGC119144, MGC119145, NAD(P)H-hydrate epimerase, YJEFN1, apoA-I binding protein]",NAD(P)HX epimerase,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:27122014, PMID:27616477, PMID:29884839]",608862,ENSG00000163382,,Q8NCW5,,HGNC:18453 +GARD:0017992,Orphanet,556955,ORPHA:556955,1,CNOT1,"[AD-005, CDC39, KIAA1007, NOT1H]",CCR4-NOT transcription complex subunit 1,gene with protein product,16q21,Disease-causing germline mutation(s) in,Assessed,[PMID:31006513],604917,ENSG00000125107,,A5YKK6,A5YKK6,HGNC:7877 +GARD:0017993,Orphanet,557003,ORPHA:557003,1,PIK3C2A,[PI3K-C2alpha],phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha,gene with protein product,11p15.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31034465],603601,ENSG00000011405,2150,O00443,,HGNC:8971 +GARD:0017994,Orphanet,557064,ORPHA:557064,1,GLS,"[GLS1, KIAA0838]",glutaminase,gene with protein product,2q32.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30575854],138280,ENSG00000115419,2891,O94925,O94925,HGNC:4331 +GARD:0017995,Orphanet,562509,ORPHA:562509,1,HMOX1,"[HO-1, bK286B10]",heme oxygenase 1,gene with protein product,22q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31216709],141250,ENSG00000100292,1441,P09601,P09601,HGNC:5013 +GARD:0017996,Orphanet,562538,ORPHA:562538,1,SELENBP1,"[LPSB, hSBP, hSP56, methanethiol oxidase]",selenium binding protein 1,gene with protein product,1q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29255262],604188,ENSG00000143416,,Q13228,Q13228,HGNC:10719 +GARD:0017997,Orphanet,562559,ORPHA:562559,1,SOBP,[FLJ10159],sine oculis binding protein homolog,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,"[PMID:17618476, PMID:21035105]",613667,ENSG00000112320,,A7XYQ1,,HGNC:29256 +GARD:0017998,Orphanet,562569,ORPHA:562569,1,TMEM94,,transmembrane protein 94,gene with protein product,17q25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30526828],618163,ENSG00000177728,,Q12767,Q12767,HGNC:28983 +GARD:0017999,Orphanet,565624,ORPHA:565624,1,GFM2,"[EF-G2mt, EFG2, FLJ21661, ribosome releasing factor 2]",GTP dependent ribosome recycling factor mitochondrial 2,gene with protein product,5q13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:22700954, PMID:26016410, PMID:29075935]",606544,ENSG00000164347,,Q969S9,Q969S9,HGNC:29682 +GARD:0018000,Orphanet,565788,ORPHA:565788,1,TGFB1,"['Diaphyseal dysplasia 1, progressive', CED, Camurati-Engelmann disease, TGFbeta, prepro-transforming growth factor beta-1]",transforming growth factor beta 1,gene with protein product,19q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29483653],190180,ENSG00000105329,,P01137,P01137,HGNC:11766 +GARD:0018001,Orphanet,565858,ORPHA:565858,1,PPP3CA,"[CNA1, PPP2B, calcineurin A alpha, protein phosphatase 2B, catalytic subunit, alpha isoform]",protein phosphatase 3 catalytic subunit alpha,gene with protein product,4q24,Disease-causing germline mutation(s) in,Assessed,"[PMID:28942967, PMID:29432562, PMID:30254215, PMID:30455226]",114105,ENSG00000138814,,Q08209,Q08209,HGNC:9314 +GARD:0018002,Orphanet,566243,ORPHA:566243,1,THRB,"[ERBA-BETA, GRTH, NR1A2, THR1, THRB1, THRB2, TRbeta, avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, generalized resistance to thyroid hormone, oncogene ERBA2, thyroid hormone receptor beta 1]",thyroid hormone receptor beta,gene with protein product,3p24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30976996],190160,ENSG00000151090,589,P10828,P10828,HGNC:11799 +GARD:0018004,Orphanet,569290,ORPHA:569290,1,PMPCB,"[MAS1, MPPB, MPPP52, beta-MPP]","peptidase, mitochondrial processing subunit beta",gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29576218],603131,ENSG00000105819,,O75439,O75439,HGNC:9119 +GARD:0018005,Orphanet,570422,ORPHA:570422,1,GALM,"[aldose 1-epimerase, aldose mutarotase, galactomutarotase]",galactose mutarotase,gene with protein product,2p22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30451973],137030,ENSG00000143891,,Q96C23,,HGNC:24063 +GARD:0018006,Orphanet,570491,ORPHA:570491,1,QRSL1,"[DKFZP564C1278, FLJ10989, FLJ12189, FLJ13447, GATA, GatA, glutamyl-tRNA(Gln) amidotransferase, subunit A]",glutaminyl-tRNA amidotransferase subunit QRSL1,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,"[PMID:30237576, PMID:30283131]",617209,ENSG00000130348,,Q9H0R6,,HGNC:21020 +GARD:0018007,Orphanet,572013,ORPHA:572013,1,MACF1,"[620 kDa actin binding protein, ABP620, ACF7, FLJ45612, FLJ46776, KIAA0465, KIAA1251, Lnc-PMIF, MACF, actin cross-linking factor, actin cross-linking family protein 7, macrophin 1, postulated migration inhibitory factor, trabeculin-alpha]",microtubule actin crosslinking factor 1,gene with protein product,1p34.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:24507697, PMID:24932993, PMID:30471716]",608271,ENSG00000127603,,Q9UPN3,Q9UPN3,HGNC:13664 +GARD:0018008,Orphanet,572354,ORPHA:572354,1,FOXL2,[BPES1],forkhead box L2,gene with protein product,3q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:30029625, PMID:31823134]",605597,ENSG00000183770,,P58012,P58012,HGNC:1092 +GARD:0018009,Orphanet,572385,ORPHA:572385,1,ROR2,,receptor tyrosine kinase like orphan receptor 2,gene with protein product,9q22.31,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:18554391, PMID:24954533]",602337,ENSG00000169071,1846,Q01974,Q01974,HGNC:10257 +GARD:0018010,Orphanet,572543,ORPHA:572543,1,SLC52A2,"[D15Ertd747e, FLJ11856, GPCR41, PAR1, RFVT2, hRFT3]",solute carrier family 52 member 2,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:26973221, PMID:30793323]",607882,ENSG00000185803,2572,Q9HAB3,Q9HAB3,HGNC:30224 +GARD:0018011,Orphanet,572768,ORPHA:572768,1,DONSON,"[B17, C2TA, DKFZP434M035]",DNA replication fork stabilization factor DONSON,gene with protein product,21q22.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:28191891, PMID:28630177, PMID:31191207, PMID:31320746]",611428,ENSG00000159147,,Q9NYP3,,HGNC:2993 +GARD:0018012,Orphanet,572798,ORPHA:572798,1,WARS2,"[TrpRS, mtTrpRS, tryptophan tRNA ligase 2, mitochondrial]","tryptophanyl tRNA synthetase 2, mitochondrial",gene with protein product,1p12,Disease-causing germline mutation(s) in,Assessed,"[PMID:28236339, PMID:29783990]",604733,ENSG00000116874,,Q9UGM6,Q9UGM6,HGNC:12730 +GARD:0018013,Orphanet,576283,ORPHA:576283,1,SATB2,"[FLJ21474, KIAA1034]",SATB homeobox 2,gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:29023086, PMID:31021519]",608148,ENSG00000119042,,Q9UPW6,Q9UPW6,HGNC:21637 +GARD:0018014,Orphanet,576349,ORPHA:576349,1,NLRC4,"[CLAN, CLAN1, CLANA, CLANB, CLANC, CLAND, CLR2.1, NOD-like receptor C4, ipaf, nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4]",NLR family CARD domain containing 4,gene with protein product,2p22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:25385754, PMID:28957823, PMID:29247997, PMID:29496273, PMID:31953710]",606831,ENSG00000091106,1782,Q9NPP4,Q9NPP4,HGNC:16412 +GARD:0018015,Orphanet,580940,ORPHA:580940,1,QRICH1,"[AB-DIP, FLJ20259, VERBRAS]",glutamine rich 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:28692176, PMID:30281152]",617387,ENSG00000198218,,Q2TAL8,Q2TAL8,HGNC:24713 +GARD:0018016,Orphanet,589435,ORPHA:589435,1,PLCB3,,phospholipase C beta 3,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29122926],600230,ENSG00000149782,1405,Q01970,Q01970,HGNC:9056 +GARD:0018017,Orphanet,597733,ORPHA:597733,1,DCT,,dopachrome tautomerase,gene with protein product,13q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:33100333],191275,ENSG00000080166,,P40126,,HGNC:2709 +GARD:0018018,Orphanet,597874,ORPHA:597874,1,MTHFS,"[5,10-methenyltetrahydrofolate synthetase, 5-formyltetrahydrofolate cyclo-ligase, HsT19268]",methenyltetrahydrofolate synthetase,gene with protein product,15q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30031689],604197,ENSG00000136371,,P49914,P49914,HGNC:7437 +GARD:0018022,Orphanet,610569,ORPHA:610569,1,KIAA1109,"[FLJ21404, FSA, KIAA1371, Tweek, fragile site-associated]",KIAA1109,gene with protein product,4q27,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29290337],611565,ENSG00000138688,,Q2LD37,,HGNC:26953 +GARD:0018023,Orphanet,610573,ORPHA:610573,1,CLCN6,,chloride voltage-gated channel 6,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,[PMID:33217309],602726,ENSG00000011021,705,P51797,,HGNC:2024 +GARD:0018038,Orphanet+OMIM,606721,OMIM:606721,1,CAV1,,caveolin 1,gene with protein product,7q31.2,The molecular basis of the disorder is known,Unknown,,601047,ENSG00000105974,,Q03135,Q03135,HGNC:1527 +GARD:0018039,Orphanet+OMIM,233300,OMIM:233300,1,FSHR,"[FSHRO, LGR1]",follicle stimulating hormone receptor,gene with protein product,2p16.3,The molecular basis of the disorder is known,Unknown,,136435,ENSG00000170820,objectId:253,P23945,P23945,HGNC:3969 +GARD:0018040,Orphanet+OMIM,300510,OMIM:300510,1,BMP15,[GDF9B],bone morphogenetic protein 15,gene with protein product,Xp11.22,The molecular basis of the disorder is known,Unknown,,300247,ENSG00000130385,ligandId:4880,O95972,O95972,HGNC:1068 +GARD:0018041,Orphanet+OMIM,614324,OMIM:614324,1,PSMC3IP,"[GT198, HUMGT198A, Hop2, TBP-1 interacting protein, TBPIP, homologous-pairing protein 2 homolog]",PSMC3 interacting protein,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,608665,ENSG00000131470,,Q9P2W1,Q9P2W1,HGNC:17928 +GARD:0018042,Orphanet+OMIM,618078,OMIM:618078,1,NUP107,"[NUP84, nuclear pore complex protein Nup107]",nucleoporin 107,gene with protein product,12q15,The molecular basis of the disorder is known,Unknown,,607617,ENSG00000111581,,P57740,P57740,HGNC:29914 +GARD:0018043,Orphanet+OMIM,618117,OMIM:618117,1,MRPS22,"[C3orf5, GIBT, GK002, MRP-S22]",mitochondrial ribosomal protein S22,gene with protein product,3q23,The molecular basis of the disorder is known,Unknown,,605810,ENSG00000175110,,P82650,P82650,HGNC:14508 +GARD:0018044,Orphanet+OMIM,618723,OMIM:618723,1,BNC1,[HsT19447],basonuclin 1,gene with protein product,15q25.2,The molecular basis of the disorder is known,Unknown,,601930,ENSG00000169594,,Q01954,,HGNC:1081 +GARD:0018045,Orphanet+OMIM,123100,OMIM:123100,1,TWIST1,"[BPES2, CRS1, H-twist, SCS, Saethre-Chotzen syndrome, bHLHa38]",twist family bHLH transcription factor 1,gene with protein product,7p21.1,The molecular basis of the disorder is known,Unknown,,601622,ENSG00000122691,,Q15672,Q15672,HGNC:12428 +GARD:0018046,Orphanet+OMIM,615529,OMIM:615529,1,ALX4,"[FPP, KIAA1788, PFM]",ALX homeobox 4,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,605420,ENSG00000052850,,Q9H161,,HGNC:450 +GARD:0018047,Orphanet+OMIM,615314,OMIM:615314,1,TCF12,"[HEB, HTF4, HsT17266, bHLHb20, helix-loop-helix transcription factor 4, p64]",transcription factor 12,gene with protein product,15q21.3,The molecular basis of the disorder is known,Unknown,,600480,ENSG00000140262,,Q99081,Q99081,HGNC:11623 +GARD:0018048,Orphanet+OMIM,616602,OMIM:616602,1,ZIC1,"[ZIC, ZNF201]",Zic family member 1,gene with protein product,3q24,The molecular basis of the disorder is known,Unknown,,600470,ENSG00000152977,,Q15915,,HGNC:12872 +GARD:0018049,Orphanet+OMIM,121400,OMIM:121400,1,CNA1,,"Cornea plana 1, autosomal dominant",unknown,12q21.33,The disease phenotype itself was mapped,Unknown,,121400,,,,,GeneID:1255 +GARD:0018050,Orphanet+OMIM,217300,OMIM:217300,1,KERA,"[SLRR2B, keratocan proteoglycan]",keratocan,gene with protein product,12q21.33,The molecular basis of the disorder is known,Unknown,,603288,ENSG00000139330,,O60938,O60938,HGNC:6309 +GARD:0018051,Orphanet+OMIM,168500,OMIM:168500,1,MSX2,"[CRS2, FPP, HOX8, MSH, PFM, craniosynostosis, type 2]",msh homeobox 2,gene with protein product,5q35.2,The molecular basis of the disorder is known,Unknown,,123101,ENSG00000120149,,P35548,P35548,HGNC:7392 +GARD:0018052,Orphanet+OMIM,609566,OMIM:609566,1,PFM3,,Parietal foramina 3,unknown,4q21-q23,The disease phenotype itself was mapped,Unknown,,609566,,,,,GeneID:619475 +GARD:0018053,Orphanet+OMIM,609597,OMIM:609597,1,ALX4,"[FPP, KIAA1788, PFM]",ALX homeobox 4,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,605420,ENSG00000052850,,Q9H161,,HGNC:450 +GARD:0018054,Orphanet+OMIM,211400,OMIM:211400,2,CFTR,"[ABC35, ATP-binding cassette sub-family C, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1, member 7]",CF transmembrane conductance regulator,gene with protein product,7q31.2,The molecular basis of the disorder is known,Unknown,,602421,ENSG00000001626,objectId:707,P13569,P13569,HGNC:1884 +GARD:0018054,Orphanet+OMIM,211400,OMIM:211400,2,SCNN1B,"[ENaCbeta, Liddle syndrome, amiloride-sensitive sodium channel subunit beta]",sodium channel epithelial 1 subunit beta,gene with protein product,16p12.2,The molecular basis of the disorder is known,Unknown,,600760,ENSG00000168447,objectId:739,P51168,P51168,HGNC:10600 +GARD:0018055,Orphanet+OMIM,613021,OMIM:613021,1,SCNN1A,"[ENaCalpha, amiloride-sensitive sodium channel subunit alpha]",sodium channel epithelial 1 subunit alpha,gene with protein product,12p13.31,The molecular basis of the disorder is known,Unknown,,600228,ENSG00000111319,objectId:738,P37088,P37088,HGNC:10599 +GARD:0018056,Orphanet+OMIM,613071,OMIM:613071,1,SCNN1G,"[ENaCgamma, SCNEG, amiloride-sensitive sodium channel subunit gamma]",sodium channel epithelial 1 subunit gamma,gene with protein product,16p12.2,The molecular basis of the disorder is known,Unknown,,600761,ENSG00000166828,objectId:741,P51170,P51170,HGNC:10602 +GARD:0018057,Orphanet+OMIM,600131,OMIM:600131,1,ECA1,,"Epilepsy, childhood absence, 1",unknown,8q24,The disease phenotype itself was mapped,Unknown,,600131,,,,,GeneID:50966 +GARD:0018058,Orphanet+OMIM,607681,OMIM:607681,1,GABRG2,"[GABA(A) receptor, gamma 2]",gamma-aminobutyric acid type A receptor subunit gamma2,gene with protein product,5q34,The molecular basis of the disorder is known,Unknown,,137164,ENSG00000113327,objectId:414,P18507,P18507,HGNC:4087 +GARD:0018059,Orphanet+OMIM,611136,OMIM:611136,1,GABRA1,"[EJM5, GABA(A) receptor, alpha 1]",gamma-aminobutyric acid type A receptor subunit alpha1,gene with protein product,5q34,The molecular basis of the disorder is known,Unknown,,137160,ENSG00000022355,objectId:404,P14867,P14867,HGNC:4075 +GARD:0018060,Orphanet+OMIM,611942,OMIM:611942,1,CACNA1H,[Cav3.2],calcium voltage-gated channel subunit alpha1 H,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,607904,ENSG00000196557,objectId:536,O95180,O95180,HGNC:1395 +GARD:0018061,Orphanet+OMIM,612269,OMIM:612269,1,GABRB3,"[GABA(A) receptor, beta 3]",gamma-aminobutyric acid type A receptor subunit beta3,gene with protein product,15q12,The molecular basis of the disorder is known,Unknown,,137192,ENSG00000166206,objectId:412,P28472,P28472,HGNC:4083 +GARD:0018062,Orphanet+OMIM,602032,OMIM:602032,1,KRT85,"[Hb-5, hard keratin type II]",keratin 85,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,602767,ENSG00000135443,,P78386,P78386,HGNC:6462 +GARD:0018063,Orphanet+OMIM,614927,OMIM:614927,1,ECTD5,,"Ectodermal dysplasia 5, hair/nail type",unknown,10q24.32-q25.1,The disease phenotype itself was mapped,Unknown,,614927,,,,,GeneID:101101769 +GARD:0018064,Orphanet+OMIM,614928,OMIM:614928,1,ECTD6,,"Ectodermal dysplasia 6, hair/nail type",unknown,17p12-q21.2,The disease phenotype itself was mapped,Unknown,,614928,,,,,GeneID:101101770 +GARD:0018065,Orphanet+OMIM,614929,OMIM:614929,1,KRT74,"[K6IRS4, KRT5C, KRT6IRS4]",keratin 74,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,608248,ENSG00000170484,,Q7RTS7,Q7RTS7,HGNC:28929 +GARD:0018066,Orphanet+OMIM,614931,OMIM:614931,1,HOXC13,,homeobox C13,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,142976,ENSG00000123364,,P31276,,HGNC:5125 +GARD:0018067,Orphanet+OMIM,618252,OMIM:618252,1,NDUFB8,"[ASHI, CI-ASHI, complex I ASHI subunit]",NADH:ubiquinone oxidoreductase subunit B8,gene with protein product,10q24.31,The molecular basis of the disorder is known,Unknown,,602140,ENSG00000166136,,O95169,O95169,HGNC:7703 +GARD:0018068,Orphanet+OMIM,605432,OMIM:605432,1,HOXA11,,homeobox A11,gene with protein product,7p15.2,The molecular basis of the disorder is known,Unknown,,142958,ENSG00000005073,,P31270,,HGNC:5101 +GARD:0018069,Orphanet+OMIM,616738,OMIM:616738,1,MECOM,"[KMT8E, MDS1-EVI1, PR domain 3, PRDM3]",MDS1 and EVI1 complex locus,gene with protein product,3q26.2,The molecular basis of the disorder is known,Unknown,,165215,ENSG00000085276,,Q03112,Q03112,HGNC:3498 +GARD:0018070,Orphanet+OMIM,115210,OMIM:115210,1,TNNI3,"[CMH7, TNNC1, cTNI]","troponin I3, cardiac type",gene with protein product,19q13.42,The molecular basis of the disorder is known,Unknown,,191044,ENSG00000129991,,P19429,P19429,HGNC:11947 +GARD:0018071,Orphanet+OMIM,609578,OMIM:609578,1,RCM2,,"Cardiomyopathy, familial restrictive, 2",unknown,10q23.3,The disease phenotype itself was mapped,Unknown,,609578,,,,,GeneID:619468 +GARD:0018072,Orphanet+OMIM,612422,OMIM:612422,1,TNNT2,[CMPD2],"troponin T2, cardiac type",gene with protein product,1q32.1,The molecular basis of the disorder is known,Unknown,,191045,ENSG00000118194,,P45379,P45379,HGNC:11949 +GARD:0018073,Orphanet+OMIM,145250,OMIM:145250,1,KITLG,"[DFNA69, FPH2, KL-1, Kitl, SCF, SF, SLF, familial progressive hyperpigmentation 2, mast cell growth factor, steel factor, stem cell factor]",KIT ligand,gene with protein product,12q21.32,The molecular basis of the disorder is known,Unknown,,184745,ENSG00000049130,ligandId:5055,P21583,P21583,HGNC:6343 +GARD:0018074,Orphanet+OMIM,614233,OMIM:614233,1,FPH1,"[HPP, MUH]","Hyperpigmentation, familial progressive, 1",,19pter-p13.1,The disease phenotype itself was mapped,Unknown,,614233,,,,,OMIM:614233 +GARD:0018075,Orphanet+OMIM,143470,OMIM:143470,1,CETP,"[BPI fold containing family F, BPIFF]",cholesteryl ester transfer protein,gene with protein product,16q13,The molecular basis of the disorder is known,Unknown,,118470,ENSG00000087237,,P11597,P11597,HGNC:1869 +GARD:0018076,Orphanet+OMIM,614028,OMIM:614028,1,APOC3,"[APOCIII, Apo-C3, Apo-CIII, ApoC-3, ApoC-III]",apolipoprotein C3,gene with protein product,11q23.3,The molecular basis of the disorder is known,Unknown,,107720,ENSG00000110245,,P02656,P02656,HGNC:610 +GARD:0018077,Orphanet+OMIM,603387,OMIM:603387,1,PIK3R2,"[P85B, p85, p85-BETA, p85beta, phosphoinositide-3-kinase regulatory subunit beta]",phosphoinositide-3-kinase regulatory subunit 2,gene with protein product,19p13.11,The molecular basis of the disorder is known,Unknown,,603157,ENSG00000105647,objectId:2504,O00459,O00459,HGNC:8980 +GARD:0018078,Orphanet+OMIM,615937,OMIM:615937,1,AKT3,"[PKBG, PRKBG, RAC-gamma, gamma, protein kinase B]",AKT serine/threonine kinase 3,gene with protein product,1q43-q44,The molecular basis of the disorder is known,Unknown,,611223,ENSG00000117020,objectId:2286,Q9Y243,Q9Y243,HGNC:393 +GARD:0018079,Orphanet+OMIM,615938,OMIM:615938,1,CCND2,[G1/S-specific cyclin D2],cyclin D2,gene with protein product,12p13.32,The molecular basis of the disorder is known,Unknown,,123833,ENSG00000118971,,P30279,P30279,HGNC:1583 +GARD:0018080,Orphanet+OMIM,613550,OMIM:613550,1,TMEM67,"[JBTS6, MGC26979, Meckelin, NPHP11]",transmembrane protein 67,gene with protein product,8q22.1,The molecular basis of the disorder is known,Unknown,,609884,ENSG00000164953,,Q5HYA8,Q5HYA8,HGNC:28396 +GARD:0018081,Orphanet+OMIM,616217,OMIM:616217,1,DCDC2,"[DCDC2A, KIAA1154, NPHP19, RU2, nephronophthisis 19]",doublecortin domain containing 2,gene with protein product,6p22.3,The molecular basis of the disorder is known,Unknown,,605755,ENSG00000146038,,Q9UHG0,,HGNC:18141 +GARD:0018082,Orphanet+OMIM,601068,OMIM:601068,1,SAMD12,[FLJ39458],sterile alpha motif domain containing 12,gene with protein product,8q24.11-q24.12,The molecular basis of the disorder is known,Unknown,,618073,ENSG00000177570,,Q8N8I0,,HGNC:31750 +GARD:0018083,Orphanet+OMIM,607876,OMIM:607876,1,STARD7,[GTT1],StAR related lipid transfer domain containing 7,gene with protein product,2q11.2,The molecular basis of the disorder is known,Unknown,,616712,ENSG00000084090,,Q9NQZ5,Q9NQZ5,HGNC:18063 +GARD:0018084,Orphanet+OMIM,613608,OMIM:613608,1,MARCHF6,"[MARCH-VI, RNF176, TEB4]",membrane associated ring-CH-type finger 6,gene with protein product,5p15.2,The molecular basis of the disorder is known,Unknown,,613297,ENSG00000145495,,O60337,O60337,HGNC:30550 +GARD:0018085,Orphanet+OMIM,615127,OMIM:615127,1,YEATS2,"[FLJ10201, FLJ12841, FLJ13308, KIAA1197]",YEATS domain containing 2,gene with protein product,3q27.1,The molecular basis of the disorder is known,Unknown,,613373,ENSG00000163872,,Q9ULM3,Q9ULM3,HGNC:25489 +GARD:0018086,Orphanet+OMIM,615400,OMIM:615400,1,CNTN2,"[TAG-1, TAX1]",contactin 2,gene with protein product,1q32.1,The molecular basis of the disorder is known,Unknown,,190197,ENSG00000184144,,Q02246,Q02246,HGNC:2172 +GARD:0018087,Orphanet+OMIM,607694,OMIM:607694,1,POLR3A,"[C160, RPC1, RPC155, hRPC155]",RNA polymerase III subunit A,gene with protein product,10q22.3,The molecular basis of the disorder is known,Unknown,,614258,ENSG00000148606,,O14802,O14802,HGNC:30074 +GARD:0018088,Orphanet+OMIM,616494,OMIM:616494,1,POLR1C,"[AC40, RPA39, RPA40, RPA5, RPAC1, RPC40]",RNA polymerase I and III subunit C,gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,610060,ENSG00000171453,,O15160,O15160,HGNC:20194 +GARD:0018089,Orphanet+OMIM,618660,OMIM:618660,1,GSR,[glutathione S-reductase],glutathione-disulfide reductase,gene with protein product,8p12,The molecular basis of the disorder is known,Unknown,,138300,ENSG00000104687,objectId:2613,P00390,P00390,HGNC:4623 +GARD:0018090,Orphanet+OMIM,618667,OMIM:618667,1,TRIM71,"[LIN-41, LIN41]",tripartite motif containing 71,gene with protein product,3p22.3,The molecular basis of the disorder is known,Unknown,,618570,ENSG00000206557,,Q2Q1W2,Q2Q1W2,HGNC:32669 +GARD:0018091,Orphanet+OMIM,601152,OMIM:601152,1,MFN2,"[CMT2A2, CPRP1, KIAA0214, MARF]",mitofusin 2,gene with protein product,1p36.22,The molecular basis of the disorder is known,Unknown,,608507,ENSG00000116688,objectId:3131,O95140,O95140,HGNC:16877 +GARD:0018092,Orphanet+OMIM,616505,OMIM:616505,1,SLC25A46,[Mitochondrial outer membrane protein],solute carrier family 25 member 46,gene with protein product,5q22.1,The molecular basis of the disorder is known,Unknown,,610826,ENSG00000164209,objectId:1096,Q96AG3,,HGNC:25198 +GARD:0018093,Orphanet+OMIM,146520,OMIM:146520,1,CDSN,[D6S586E],corneodesmosin,gene with protein product,6p21.33,The molecular basis of the disorder is known,Unknown,,602593,ENSG00000204539,,Q15517,Q15517,HGNC:1802 +GARD:0018094,Orphanet+OMIM,613981,OMIM:613981,1,KRT74,"[K6IRS4, KRT5C, KRT6IRS4]",keratin 74,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,608248,ENSG00000170484,,Q7RTS7,Q7RTS7,HGNC:28929 +GARD:0018095,Orphanet+OMIM,300030,OMIM:300030,1,DFNX3,[DFN4],"Deafness, X-linked 3",unknown,Xp21.2,The disease phenotype itself was mapped,Unknown,,300030,,,,,GeneID:1680 +GARD:0018096,Orphanet+OMIM,300066,OMIM:300066,1,SMPX,"[Chisel, Csl, DFNX4]",small muscle protein X-linked,gene with protein product,Xp22.12,The molecular basis of the disorder is known,Unknown,,300226,ENSG00000091482,,Q9UHP9,,HGNC:11122 +GARD:0018097,Orphanet+OMIM,300914,OMIM:300914,1,COL4A6,,collagen type IV alpha 6 chain,gene with protein product,Xq22.3,The molecular basis of the disorder is known,Unknown,,303631,ENSG00000197565,,Q14031,Q14031,HGNC:2208 +GARD:0018098,Orphanet+OMIM,304500,OMIM:304500,1,PRPS1,"[CMTX5, DFNX1, PPRibP, PRS I, PRS-I, ribose-phosphate diphosphokinase 1]",phosphoribosyl pyrophosphate synthetase 1,gene with protein product,Xq22.3,The molecular basis of the disorder is known,Unknown,,311850,ENSG00000147224,,P60891,P60891,HGNC:9462 +GARD:0018099,Orphanet+OMIM,600101,OMIM:600101,1,KCNQ4,[Kv7.4],potassium voltage-gated channel subfamily Q member 4,gene with protein product,1p34.2,The molecular basis of the disorder is known,Unknown,,603537,ENSG00000117013,objectId:563,P56696,P56696,HGNC:6298 +GARD:0018100,Orphanet+OMIM,600652,OMIM:600652,1,MYH14,"[FLJ13881, KIAA2034, MHC16, MYH17]",myosin heavy chain 14,gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,608568,ENSG00000105357,,Q7Z406,Q7Z406,HGNC:23212 +GARD:0018101,Orphanet+OMIM,600965,OMIM:600965,1,WFS1,"[DIDMOAD, WFS]",wolframin ER transmembrane glycoprotein,gene with protein product,4p16.1,The molecular basis of the disorder is known,Unknown,,606201,ENSG00000109501,,O76024,O76024,HGNC:12762 +GARD:0018102,Orphanet+OMIM,600994,OMIM:600994,1,GSDME,"[ICERE-1, inversely correlated with estrogen receptor expression]",gasdermin E,gene with protein product,7p15.3,The molecular basis of the disorder is known,Unknown,,608798,ENSG00000105928,,O60443,O60443,HGNC:2810 +GARD:0018103,Orphanet+OMIM,601316,OMIM:601316,1,EYA4,,EYA transcriptional coactivator and phosphatase 4,gene with protein product,6q23.2,The molecular basis of the disorder is known,Unknown,,603550,ENSG00000112319,,O95677,O95677,HGNC:3522 +GARD:0018104,Orphanet+OMIM,601317,OMIM:601317,1,MYO7A,[NSRD2],myosin VIIA,gene with protein product,11q13.5,The molecular basis of the disorder is known,Unknown,,276903,ENSG00000137474,,Q13402,Q13402,HGNC:7606 +GARD:0018105,Orphanet+OMIM,601369,OMIM:601369,1,COCH,[COCH-5B2],cochlin,gene with protein product,14q12,The molecular basis of the disorder is known,Unknown,,603196,ENSG00000100473,,O43405,,HGNC:2180 +GARD:0018106,Orphanet+OMIM,601412,OMIM:601412,1,LMX1A,[LMX1.1],LIM homeobox transcription factor 1 alpha,gene with protein product,1q23.3,The molecular basis of the disorder is known,Unknown,,600298,ENSG00000162761,,Q8TE12,,HGNC:6653 +GARD:0018107,Orphanet+OMIM,601543,OMIM:601543,1,TECTA,,tectorin alpha,gene with protein product,11q23.3,The molecular basis of the disorder is known,Unknown,,602574,ENSG00000109927,,O75443,O75443,HGNC:11720 +GARD:0018108,Orphanet+OMIM,601868,OMIM:601868,1,COL11A2,[HKE5],collagen type XI alpha 2 chain,gene with protein product,6p21.32,The molecular basis of the disorder is known,Unknown,,120290,ENSG00000204248,,P13942,P13942,HGNC:2187 +GARD:0018109,Orphanet+OMIM,602459,OMIM:602459,1,POU4F3,[BRN3C],POU class 4 homeobox 3,gene with protein product,5q32,The molecular basis of the disorder is known,Unknown,,602460,ENSG00000091010,,Q15319,,HGNC:9220 +GARD:0018110,Orphanet+OMIM,603964,OMIM:603964,1,DFNA16,,"Deafness, autosomal dominant 16",unknown,2q23-q24.3,The disease phenotype itself was mapped,Unknown,,603964,,,,,GeneID:1694 +GARD:0018111,Orphanet+OMIM,604717,OMIM:604717,1,ACTG1,,actin gamma 1,gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,102560,ENSG00000184009,,P63261,P63261,HGNC:144 +GARD:0018112,Orphanet+OMIM,605583,OMIM:605583,1,SLC17A8,"[VGLUT3, vesicular glutamate transporter 3]",solute carrier family 17 member 8,gene with protein product,12q23.1,The molecular basis of the disorder is known,Unknown,,607557,ENSG00000179520,objectId:1009,Q8NDX2,Q8NDX2,HGNC:20151 +GARD:0018113,Orphanet+OMIM,606012,OMIM:606012,1,DFNA18,,"Deafness, autosomal dominant 18",unknown,3q22,The disease phenotype itself was mapped,Unknown,,606012,,,,,GeneID:85507 +GARD:0018114,Orphanet+OMIM,606451,OMIM:606451,1,DFNA30,,"Deafness, autosomal dominant 30",unknown,15q25-q26,The disease phenotype itself was mapped,Unknown,,606451,,,,,GeneID:23719 +GARD:0018115,Orphanet+OMIM,606705,OMIM:606705,1,TMC1,,transmembrane channel like 1,gene with protein product,9q21.13,The molecular basis of the disorder is known,Unknown,,606706,ENSG00000165091,,Q8TDI8,Q8TDI8,HGNC:16513 +GARD:0018116,Orphanet+OMIM,607017,OMIM:607017,1,RIPOR2,"[DIFF48, KIAA0386, MYONAP, myogenesis-related and NCAM-associated protein homolog (chicken)]",RHO family interacting cell polarization regulator 2,gene with protein product,6p22.3,The molecular basis of the disorder is known,Unknown,,611410,ENSG00000111913,,Q9Y4F9,Q9Y4F9,HGNC:13872 +GARD:0018118,Orphanet+OMIM,607453,OMIM:607453,1,CCDC50,[Ymer],coiled-coil domain containing 50,gene with protein product,3q28,The molecular basis of the disorder is known,Unknown,,611051,ENSG00000152492,,Q8IVM0,,HGNC:18111 +GARD:0018119,Orphanet+OMIM,607683,OMIM:607683,1,DFNA52,[DFNA42],"Deafness, autosomal dominant 52",,5q31.1-q32,The disease phenotype itself was mapped,Unknown,,607683,,,,,OMIM:607683 +GARD:0018120,Orphanet+OMIM,607841,OMIM:607841,1,DFNA48,,"Deafness, autosomal dominant 48",,12q13-q14,The disease phenotype itself was mapped,Unknown,,607841,,,,,OMIM:607841 +GARD:0018121,Orphanet+OMIM,608224,OMIM:608224,1,P2RX2,[P2X2],purinergic receptor P2X 2,gene with protein product,12q24.33,The molecular basis of the disorder is known,Unknown,,600844,ENSG00000187848,objectId:479,Q9UBL9,Q9UBL9,HGNC:15459 +GARD:0018122,Orphanet+OMIM,608372,OMIM:608372,1,DFNA49,,"Deafness, autosomal dominant 49",unknown,1q21-q23,The disease phenotype itself was mapped,Unknown,,608372,,,,,GeneID:317664 +GARD:0018123,Orphanet+OMIM,608394,OMIM:608394,1,DFNA43,,"Deafness, autosomal dominant 43",unknown,2p12,The disease phenotype itself was mapped,Unknown,,608394,,,,,GeneID:192676 +GARD:0018124,Orphanet+OMIM,608641,OMIM:608641,1,GRHL2,"[BOM, FLJ13782, brother-of-MGR]",grainyhead like transcription factor 2,gene with protein product,8q22.3,The molecular basis of the disorder is known,Unknown,,608576,ENSG00000083307,,Q6ISB3,,HGNC:2799 +GARD:0018125,Orphanet+OMIM,608645,OMIM:608645,1,DFNA31,,"Deafness, autosomal dominant 31",unknown,6p21.3,The disease phenotype itself was mapped,Unknown,,608645,,,,,GeneID:347737 +GARD:0018126,Orphanet+OMIM,608652,OMIM:608652,1,DFNA47,[DFNB83],"Deafness, autosomal dominant 47",unknown,9p22-p21,The disease phenotype itself was mapped,Unknown,,608652,,,,,GeneID:246289 +GARD:0018127,Orphanet+OMIM,609129,OMIM:609129,1,DIAPH3,"[AN, DRF3, FLJ34705, NSDAN]",diaphanous related formin 3,gene with protein product,13q21.2,The molecular basis of the disorder is known,Unknown,,614567,ENSG00000139734,,Q9NSV4,Q9NSV4,HGNC:15480 +GARD:0018128,Orphanet+OMIM,612431,OMIM:612431,1,REST,"[NRSF, XBR, neuron-restrictive silencer factor]",RE1 silencing transcription factor,gene with protein product,4q12,The molecular basis of the disorder is known,Unknown,,600571,ENSG00000084093,,Q13127,Q13127,HGNC:9966 +GARD:0018129,Orphanet+OMIM,612642,OMIM:612642,1,DFNA59,,"Deafness, autosomal dominant 59",unknown,11p14.2-q12.3,The disease phenotype itself was mapped,Unknown,,612642,,,,,GeneID:100271924 +GARD:0018130,Orphanet+OMIM,612643,OMIM:612643,1,GJB6,"[CX30, EDH, HED, connexin 30]",gap junction protein beta 6,gene with protein product,13q12.11,The molecular basis of the disorder is known,Unknown,,604418,ENSG00000121742,objectId:717,O95452,O95452,HGNC:4288 +GARD:0018131,Orphanet+OMIM,612644,OMIM:612644,1,GJB3,"[CX31, connexin 31]",gap junction protein beta 3,gene with protein product,1p34.3,The molecular basis of the disorder is known,Unknown,,603324,ENSG00000188910,objectId:720,O75712,O75712,HGNC:4285 +GARD:0018132,Orphanet+OMIM,613074,OMIM:613074,1,MIR96,[hsa-mir-96],microRNA 96,"RNA, micro",7q32.2,The molecular basis of the disorder is known,Unknown,,611606,ENSG00000199158,,,,HGNC:31648 +GARD:0018133,Orphanet+OMIM,613558,OMIM:613558,1,DFNA51,"[C9DUPq21.11, DUP9q21.11]","Deafness, autosomal dominant 51 (chromosome 9q21.11 duplication syndrome)",,9q21.11,The disorder is a chromosome deletion or duplication syndrome,Unknown,,613558,,,,,OMIM:613558 +GARD:0018134,Orphanet+OMIM,614152,OMIM:614152,1,DIABLO,"[DFNA64, DIABLO-S, FLJ10537, FLJ25049, SMAC, second mitochondria-derived activator of caspase]",diablo IAP-binding mitochondrial protein,gene with protein product,12q24.31,The molecular basis of the disorder is known,Unknown,,605219,ENSG00000184047,,Q9NR28,Q9NR28,HGNC:21528 +GARD:0018135,Orphanet+OMIM,614211,OMIM:614211,1,DFNA33,,"Deafness, autosomal dominant 33",unknown,13q34,The disease phenotype itself was mapped,Unknown,,614211,,,,,GeneID:29779 +GARD:0018136,Orphanet+OMIM,614614,OMIM:614614,1,CEACAM16,[DFNA4B],"CEA cell adhesion molecule 16, tectorial membrane component",gene with protein product,19q13.31-q13.32,The molecular basis of the disorder is known,Unknown,,614591,ENSG00000213892,,Q2WEN9,,HGNC:31948 +GARD:0018137,Orphanet+OMIM,615629,OMIM:615629,1,TNC,"[MGC167029, TN, hexabrachion (tenascin)]",tenascin C,gene with protein product,9q33.1,The molecular basis of the disorder is known,Unknown,,187380,ENSG00000041982,,P24821,P24821,HGNC:5318 +GARD:0018138,Orphanet+OMIM,615649,OMIM:615649,1,DFNA54,,"Deafness, autosomal dominant 54",unknown,5q31,The disease phenotype itself was mapped,Unknown,,615649,,,,,GeneID:448962 +GARD:0018139,Orphanet+OMIM,615654,OMIM:615654,1,DFNA58,,"Deafness, autosomal dominant 58",unknown,2p21-p12,The disease phenotype itself was mapped,Unknown,,615654,,,,,GeneID:100359395 +GARD:0018140,Orphanet+OMIM,616044,OMIM:616044,1,TBC1D24,"[DFNA65, KIAA1171, TBC/LysM-associated domain containing 6, TLDC6, autosomal dominant 65, deafness, skywalker homolog (Drosophila)]",TBC1 domain family member 24,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,613577,ENSG00000162065,,Q9ULP9,Q9ULP9,HGNC:29203 +GARD:0018141,Orphanet+OMIM,616340,OMIM:616340,1,OSBPL2,"[DFNA67, KIAA0772, ORP-2]",oxysterol binding protein like 2,gene with protein product,20q13.33,The molecular basis of the disorder is known,Unknown,,606731,ENSG00000130703,,Q9H1P3,Q9H1P3,HGNC:15761 +GARD:0018142,Orphanet+OMIM,616357,OMIM:616357,1,CRYM,"[DFNA40, mu-crystallin, thiomorpholine-carboxylate dehydrogenase]",crystallin mu,gene with protein product,16p12.2,The molecular basis of the disorder is known,Unknown,,123740,ENSG00000103316,,Q14894,Q14894,HGNC:2418 +GARD:0018143,Orphanet+OMIM,616697,OMIM:616697,1,KITLG,"[DFNA69, FPH2, KL-1, Kitl, SCF, SF, SLF, familial progressive hyperpigmentation 2, mast cell growth factor, steel factor, stem cell factor]",KIT ligand,gene with protein product,12q21.32,The molecular basis of the disorder is known,Unknown,,184745,ENSG00000049130,ligandId:5055,P21583,P21583,HGNC:6343 +GARD:0018144,Orphanet+OMIM,616707,OMIM:616707,1,HOMER2,"[CPD, Cupidin, DFNA68, HOMER-2, HOMER-2A, HOMER-2B, Vesl-2]",homer scaffold protein 2,gene with protein product,15q25.2,The molecular basis of the disorder is known,Unknown,,604799,ENSG00000103942,,Q9NSB8,Q9NSB8,HGNC:17513 +GARD:0018145,Orphanet+OMIM,616968,OMIM:616968,1,MCM2,"[BM28, D3S3194, DFNA70, KIAA0030, cdc19, mitotin]",minichromosome maintenance complex component 2,gene with protein product,3q21.3,The molecular basis of the disorder is known,Unknown,,116945,ENSG00000073111,,P49736,P49736,HGNC:6944 +GARD:0018146,Orphanet+OMIM,616969,OMIM:616969,1,CD164,"[DFNA66, MGC-24, MUC-24, autosomal dominant 66, deafness]",CD164 molecule,gene with protein product,6q21,The molecular basis of the disorder is known,Unknown,,603356,ENSG00000135535,,Q04900,,HGNC:1632 +GARD:0018147,Orphanet+OMIM,617605,OMIM:617605,1,DMXL2,"[DFNA71, KIAA0856, RC3, rabconnectin 3]",Dmx like 2,gene with protein product,15q21.2,The molecular basis of the disorder is known,Unknown,,612186,ENSG00000104093,,Q8TDJ6,,HGNC:2938 +GARD:0018148,Orphanet+OMIM,617606,OMIM:617606,1,SLC44A4,"[CTL4, DFNA72, FLJ14491, NG22, TPPT]",solute carrier family 44 member 4,gene with protein product,6p21.33,The molecular basis of the disorder is known,Unknown,,606107,ENSG00000204385,objectId:1207,Q53GD3,Q53GD3,HGNC:13941 +GARD:0018149,Orphanet+OMIM,617663,OMIM:617663,1,PTPRQ,[phosphatidylinositol phosphatase PTPRQ],protein tyrosine phosphatase receptor type Q,gene with protein product,12q21.31,The molecular basis of the disorder is known,Unknown,,603317,ENSG00000139304,objectId:1864,Q9UMZ3,,HGNC:9679 +GARD:0018150,Orphanet+OMIM,618094,OMIM:618094,1,COCH,[COCH-5B2],cochlin,gene with protein product,14q12,The molecular basis of the disorder is known,Unknown,,603196,ENSG00000100473,,O43405,,HGNC:2180 +GARD:0018151,Orphanet+OMIM,618140,OMIM:618140,1,PDE1C,[Hcam3],phosphodiesterase 1C,gene with protein product,7p14.3,The molecular basis of the disorder is known,Unknown,,602987,ENSG00000154678,objectId:1296,Q14123,Q14123,HGNC:8776 +GARD:0018152,Orphanet+OMIM,618410,OMIM:618410,1,CEACAM16,[DFNA4B],"CEA cell adhesion molecule 16, tectorial membrane component",gene with protein product,19q13.31-q13.32,The molecular basis of the disorder is known,Unknown,,614591,ENSG00000213892,,Q2WEN9,,HGNC:31948 +GARD:0018153,Orphanet+OMIM,618778,OMIM:618778,1,TRRAP,"[PAF400, TR-AP, Tra1]",transformation/transcription domain associated protein,gene with protein product,7q22.1,The molecular basis of the disorder is known,Unknown,,603015,ENSG00000196367,objectId:2256,Q9Y4A5,Q9Y4A5,HGNC:12347 +GARD:0018154,Orphanet+OMIM,618787,OMIM:618787,1,PLS1,"[I-plastin, Plastin-1, fimbrin]",plastin 1,gene with protein product,3q23,The molecular basis of the disorder is known,Unknown,,602734,ENSG00000120756,,Q14651,Q14651,HGNC:9090 +GARD:0018155,Orphanet+OMIM,618915,OMIM:618915,1,ABCC1,"[GS-X, glutathione S-conjugate export pump]",ATP binding cassette subfamily C member 1,gene with protein product,16p13.11,The molecular basis of the disorder is known,Unknown,,158343,ENSG00000103222,objectId:779,P33527,P33527,HGNC:51 +GARD:0018156,Orphanet+OMIM,619081,OMIM:619081,1,SLC12A2,"[BSC-2, BSC2, CCC1, NKCC1, PPP1R141, basolateral Na-K-Cl symporter, bumetanide-sensitive cotransporter type 2, protein phosphatase 1, regulatory subunit 141]",solute carrier family 12 member 2,gene with protein product,5q23.3,The molecular basis of the disorder is known,Unknown,,600840,ENSG00000064651,objectId:969,P55011,P55011,HGNC:10911 +GARD:0018157,Orphanet+OMIM,619086,OMIM:619086,1,SCD5,"[ACOD4, FADS4, FLJ21032, HSCD5]",stearoyl-CoA desaturase 5,gene with protein product,4q21.22,The molecular basis of the disorder is known,Unknown,,608370,ENSG00000145284,,Q86SK9,Q86SK9,HGNC:21088 +GARD:0018158,Orphanet+OMIM,619274,OMIM:619274,1,GREB1L,"[C18orf6, FLJ13687]",GREB1 like retinoic acid receptor coactivator,gene with protein product,18q11.1-q11.2,The molecular basis of the disorder is known,Unknown,,617782,ENSG00000141449,,Q9C091,,HGNC:31042 +GARD:0018161,Orphanet+OMIM,580000,OMIM:580000,1,TRMU,"[FLJ10140, MTO2, MTU1, mitochondrial tRNA-specific 2-thiouridylase 1]",tRNA mitochondrial 2-thiouridylase,gene with protein product,22q13.31,The molecular basis of the disorder is known,Unknown,,610230,ENSG00000100416,,O75648,O75648,HGNC:25481 +GARD:0018162,Orphanet+OMIM,178300,OMIM:178300,2,PTOS1,,"Ptosis, congenital 1, autosomal dominant",unknown,1p34.1-p32,The disease phenotype itself was mapped,Unknown,,178300,,,,,GeneID:5765 +GARD:0018162,Orphanet+OMIM,178300,OMIM:178300,2,ZFHX4,"[FLJ20980, ZFH4]",zinc finger homeobox 4,gene with protein product,8q21.13,The disease phenotype itself was mapped,Unknown,,606940,ENSG00000091656,,Q86UP3,,HGNC:30939 +GARD:0018163,Orphanet+OMIM,300245,OMIM:300245,1,PTOS2,[PTOSX],"Ptosis, hereditary congenital 2",unknown,Xq24-q27.1,The disease phenotype itself was mapped,Unknown,,300245,,,,,GeneID:54115 +GARD:0018164,Orphanet+OMIM,616219,OMIM:616219,1,COL25A1,,collagen type XXV alpha 1 chain,gene with protein product,4q25,The molecular basis of the disorder is known,Unknown,,610004,ENSG00000188517,,Q9BXS0,Q9BXS0,HGNC:18603 +GARD:0018167,Orphanet+OMIM,221900,OMIM:221900,1,ATOH7,"[Math5, bHLHa13]",atonal bHLH transcription factor 7,gene with protein product,10q21.3,The molecular basis of the disorder is known,Unknown,,609875,ENSG00000179774,,Q8N100,,HGNC:13907 +GARD:0018169,Orphanet+OMIM,277440,OMIM:277440,1,VDR,"[1;25- dihydroxyvitamin D3 receptor, NR1I1, PPP1R163, protein phosphatase 1, regulatory subunit 163]",vitamin D receptor,gene with protein product,12q13.11,The molecular basis of the disorder is known,Unknown,,601769,ENSG00000111424,objectId:605,P11473,P11473,HGNC:12679 +GARD:0018171,Orphanet+OMIM,619073,OMIM:619073,1,CYP3A4,,cytochrome P450 family 3 subfamily A member 4,gene with protein product,7q22.1,The molecular basis of the disorder is known,Unknown,,124010,ENSG00000160868,objectId:1337,P08684,P08684,HGNC:2637 +GARD:0018172,Orphanet+OMIM,263450,OMIM:263450,1,PAPA5,,"Polydactyly, postaxial, type A5",unknown,13q13.3-q21,The disease phenotype itself was mapped,Unknown,,263450,,,,,GeneID:101241897 +GARD:0018173,Orphanet+OMIM,602085,OMIM:602085,1,PAPA2,,"Postaxial polydactyly, type A2",unknown,13q21-q32,The disease phenotype itself was mapped,Unknown,,602085,,,,,GeneID:8103 +GARD:0018174,Orphanet+OMIM,607324,OMIM:607324,1,PAPA3,,"Polydactyly, postaxial, type A3",unknown,19p13.2-p13.1,The disease phenotype itself was mapped,Unknown,,607324,,,,,GeneID:338333 +GARD:0018175,Orphanet+OMIM,608562,OMIM:608562,1,PAPA4,,"Polydactyly, postaxial, type A4",unknown,7q22,The disease phenotype itself was mapped,Unknown,,608562,,,,,GeneID:450096 +GARD:0018176,Orphanet+OMIM,615226,OMIM:615226,1,ZNF141,[pHZ-44],zinc finger protein 141,gene with protein product,4p16.3,The molecular basis of the disorder is known,Unknown,,194648,ENSG00000131127,,Q15928,Q15928,HGNC:12926 +GARD:0018177,Orphanet+OMIM,618219,OMIM:618219,1,CIBAR1,"[BARMR1, FLJ38979]",CBY1 interacting BAR domain containing 1,gene with protein product,8q22.1,The molecular basis of the disorder is known,Unknown,,617273,ENSG00000188343,,A1XBS5,,HGNC:30452 +GARD:0018178,Orphanet+OMIM,618498,OMIM:618498,1,KIAA0825,"[DKFZp686F0372, MGC34713]",KIAA0825,gene with protein product,5q15,The molecular basis of the disorder is known,Unknown,,617266,ENSG00000185261,,Q8IV33,,HGNC:28532 +GARD:0018179,Orphanet+OMIM,604387,OMIM:604387,1,NPHP3,"[CFAP31, FLJ30691, FLJ36696, KIAA2000, MKS7, Meckel syndrome, NPH3, SLSN3, cilia and flagella associated protein 31, type 7]",nephrocystin 3,gene with protein product,3q22.1,The molecular basis of the disorder is known,Unknown,,608002,ENSG00000113971,,Q7Z494,Q7Z494,HGNC:7907 +GARD:0018180,Orphanet+OMIM,613159,OMIM:613159,1,XPNPEP3,"[APP3, ICP55, Intermediate Cleaving Peptidase 55, NPHPL1]",X-prolyl aminopeptidase 3,gene with protein product,22q13.2,The molecular basis of the disorder is known,Unknown,,613553,ENSG00000196236,objectId:1580,Q9NQH7,,HGNC:28052 +GARD:0018181,Orphanet+OMIM,617271,OMIM:617271,1,MAPKBP1,"[KIAA0596, NPHP20]",mitogen-activated protein kinase binding protein 1,gene with protein product,15q15.1,The molecular basis of the disorder is known,Unknown,,616786,ENSG00000137802,,O60336,,HGNC:29536 +GARD:0018182,Orphanet+OMIM,602088,OMIM:602088,1,INVS,[nephrocystin 2],inversin,gene with protein product,9q31.1,The molecular basis of the disorder is known,Unknown,,243305,ENSG00000119509,,Q9Y283,,HGNC:17870 +GARD:0018183,Orphanet+OMIM,615382,OMIM:615382,1,ANKS6,"[FLJ36928, NPHP16]",ankyrin repeat and sterile alpha motif domain containing 6,gene with protein product,9q22.33,The molecular basis of the disorder is known,Unknown,,615370,ENSG00000165138,,Q68DC2,,HGNC:26724 +GARD:0018184,Orphanet+OMIM,146450,OMIM:146450,1,HYSP3,,"Hypospadias 3, autosomal",unknown,7q32.2-q36.1,The disease phenotype itself was mapped,Unknown,,146450,,,,,GeneID:100689211 +GARD:0018185,Orphanet+OMIM,300633,OMIM:300633,1,AR,"[AIS, HUMARA, Kennedy disease, NR3C4, SMAX1, testicular feminization]",androgen receptor,gene with protein product,Xq12,The molecular basis of the disorder is known,Unknown,,313700,ENSG00000169083,objectId:628,P10275,P10275,HGNC:644 +GARD:0018186,Orphanet+OMIM,300758,OMIM:300758,1,MAMLD1,"[CG1, F18]",mastermind like domain containing 1,gene with protein product,Xq28,The molecular basis of the disorder is known,Unknown,,300120,ENSG00000013619,,Q13495,Q13495,HGNC:2568 +GARD:0018187,Orphanet+OMIM,300856,OMIM:300856,1,HYSP4,,"Hypospadias 4, X-linked, susceptibility to",unknown,Xp11.22,The disease phenotype itself was mapped,Unknown,,300856,,,,,GeneID:100689214 +GARD:0018188,Orphanet+OMIM,274400,OMIM:274400,1,SLC5A5,"[NIS, sodium iodide symporter]",solute carrier family 5 member 5,gene with protein product,19p13.11,The molecular basis of the disorder is known,Unknown,,601843,ENSG00000105641,objectId:920,Q92911,Q92911,HGNC:11040 +GARD:0018189,Orphanet+OMIM,274500,OMIM:274500,1,TPO,[TPX],thyroid peroxidase,gene with protein product,2p25.3,The molecular basis of the disorder is known,Unknown,,606765,ENSG00000115705,objectId:2526,P07202,P07202,HGNC:12015 +GARD:0018190,Orphanet+OMIM,274700,OMIM:274700,1,TG,"[AITD3, TGN]",thyroglobulin,gene with protein product,8q24.22,The molecular basis of the disorder is known,Unknown,,188450,ENSG00000042832,,P01266,,HGNC:11764 +GARD:0018191,Orphanet+OMIM,274800,OMIM:274800,1,IYD,"[DEHAL1, dJ422F24.1]",iodotyrosine deiodinase,gene with protein product,6q25.1,The molecular basis of the disorder is known,Unknown,,612025,ENSG00000009765,objectId:2488,Q6PHW0,Q6PHW0,HGNC:21071 +GARD:0018192,Orphanet+OMIM,274900,OMIM:274900,1,DUOXA2,,dual oxidase maturation factor 2,gene with protein product,15q21.1,The molecular basis of the disorder is known,Unknown,,612772,ENSG00000140274,,Q1HG44,,HGNC:32698 +GARD:0018193,Orphanet+OMIM,607200,OMIM:607200,1,DUOX2,"[LNOX2, NADH/NADPH thyroid oxidase p138-tox, NADPH oxidase/peroxidase DUOX2, NADPH thyroid oxidase 2, P138(TOX), P138-TOX, THOX2, dual oxidase-like domains 2, flavoprotein NADPH oxidase, nicotinamide adenine dinucleotide phosphate oxidase]",dual oxidase 2,gene with protein product,15q21.1,The molecular basis of the disorder is known,Unknown,,606759,ENSG00000140279,objectId:2999,Q9NRD8,Q9NRD8,HGNC:13273 +GARD:0018194,Orphanet+OMIM,619126,OMIM:619126,1,TET2,"[FLJ20032, ten-eleven translocation 2]",tet methylcytosine dioxygenase 2,gene with protein product,4q24,The molecular basis of the disorder is known,Unknown,,612839,ENSG00000168769,,Q6N021,Q6N021,HGNC:25941 +GARD:0018195,Orphanet+OMIM,277450,OMIM:277450,1,GGCX,"[VKCFD1, peptidyl-glutamate 4-carboxylase, vitamin K-dependent gamma-carboxylase]",gamma-glutamyl carboxylase,gene with protein product,2p11.2,The molecular basis of the disorder is known,Unknown,,137167,ENSG00000115486,objectId:1268,P38435,P38435,HGNC:4247 +GARD:0018196,Orphanet+OMIM,607473,OMIM:607473,1,VKORC1,,vitamin K epoxide reductase complex subunit 1,gene with protein product,16p11.2,The molecular basis of the disorder is known,Unknown,,608547,ENSG00000167397,objectId:2645,Q9BQB6,Q9BQB6,HGNC:23663 +GARD:0018197,Orphanet+OMIM,614292,OMIM:614292,1,P3H2,"[FLJ10718, MLAT4, procollagen-proline 3-dioxygenase 2]",prolyl 3-hydroxylase 2,gene with protein product,3q28,The molecular basis of the disorder is known,Unknown,,610341,ENSG00000090530,,Q8IVL5,Q8IVL5,HGNC:19317 +GARD:0018198,Orphanet+OMIM,615431,OMIM:615431,1,LRPAP1,[HBP44],LDL receptor related protein associated protein 1,gene with protein product,4p16.3,The molecular basis of the disorder is known,Unknown,,104225,ENSG00000163956,,P30533,,HGNC:6701 +GARD:0018199,Orphanet+OMIM,616289,OMIM:616289,1,ACO2,"[ACONM, aconitate hydratase, mitochondrial, mitochondrial aconitase]",aconitase 2,gene with protein product,22q13.2,The molecular basis of the disorder is known,Unknown,,100850,ENSG00000100412,,Q99798,Q99798,HGNC:118 +GARD:0018200,Orphanet+OMIM,616732,OMIM:616732,1,RTN4IP1,[NIMP],reticulon 4 interacting protein 1,gene with protein product,6q21,The molecular basis of the disorder is known,Unknown,,610502,ENSG00000130347,,Q8WWV3,,HGNC:18647 +GARD:0018201,Orphanet+OMIM,617302,OMIM:617302,1,YME1L1,[YME1L],YME1 like 1 ATPase,gene with protein product,10p12.1,The molecular basis of the disorder is known,Unknown,,607472,ENSG00000136758,,Q96TA2,Q96TA2,HGNC:12843 +GARD:0018202,Orphanet+OMIM,604364,OMIM:604364,1,DEPDC5,"[DEP.5, KIAA0645]","DEP domain containing 5, GATOR1 subcomplex subunit",gene with protein product,22q12.2-q12.3,The molecular basis of the disorder is known,Unknown,,614191,ENSG00000100150,,O75140,O75140,HGNC:18423 +GARD:0018203,Orphanet+OMIM,617116,OMIM:617116,1,NPRL2,"[NPR2, NPR2L]","NPR2 like, GATOR1 complex subunit",gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,607072,ENSG00000114388,,Q8WTW4,Q8WTW4,HGNC:24969 +GARD:0018204,Orphanet+OMIM,617118,OMIM:617118,1,NPRL3,"[CGTHBA, HS-40, MARE, NPR3, RMD11, conserved gene telomeric to alpha globin cluster]","NPR3 like, GATOR1 complex subunit",gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,600928,ENSG00000103148,,Q12980,Q12980,HGNC:14124 +GARD:0018206,Orphanet+OMIM,612998,OMIM:612998,1,SYNE1,"[8B, ARCA1, CPG2, KIAA0796, MYNE1, Nesp1, Nesprin-1, SCAR8, SYNE-1B, dJ45H2.2, enaptin, myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1]",spectrin repeat containing nuclear envelope protein 1,gene with protein product,6q25.2,The molecular basis of the disorder is known,Unknown,,608441,ENSG00000131018,,Q8NF91,Q8NF91,HGNC:17089 +GARD:0018207,Orphanet+OMIM,612999,OMIM:612999,1,SYNE2,"[DKFZP434H2235, KIAA1011, NUA, NUANCE, Nesp2, Nesprin-2, SYNE-2, nuclear envelope spectrin repeat-2, nucleus and actin connecting element]",spectrin repeat containing nuclear envelope protein 2,gene with protein product,14q23.2,The molecular basis of the disorder is known,Unknown,,608442,ENSG00000054654,,Q8WXH0,Q8WXH0,HGNC:17084 +GARD:0018208,Orphanet+OMIM,614302,OMIM:614302,1,TMEM43,"[DKFZp586G1919, LUMA, MGC3222]",transmembrane protein 43,gene with protein product,3p25.1,The molecular basis of the disorder is known,Unknown,,612048,ENSG00000170876,,Q9BTV4,,HGNC:28472 +GARD:0018209,Orphanet+OMIM,616516,OMIM:616516,1,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,The molecular basis of the disorder is known,Unknown,,150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0018210,Orphanet+OMIM,603034,OMIM:603034,1,COLQ,"[AChE Q subunit, EAD, acetylcholinesterase-associated collagen, collagenic tail of endplate acetylcholinesterase, single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase]",collagen like tail subunit of asymmetric acetylcholinesterase,gene with protein product,3p25.1,The molecular basis of the disorder is known,Unknown,,603033,ENSG00000206561,,Q9Y215,,HGNC:2226 +GARD:0018211,Orphanet+OMIM,139393,OMIM:139393,1,PMP22,"[GAS3, HMSNIA, HNPP, Sp110]",peripheral myelin protein 22,gene with protein product,17p12,The molecular basis of the disorder is known,Unknown,,601097,ENSG00000109099,,Q01453,Q01453,HGNC:9118 +GARD:0018212,Orphanet+OMIM,122000,OMIM:122000,1,OVOL2,"[CHED, HOVO2, bA504H3.3]",ovo like zinc finger 2,gene with protein product,20p11.23,The molecular basis of the disorder is known,Unknown,,616441,ENSG00000125850,,Q9BRP0,,HGNC:15804 +GARD:0018213,Orphanet+OMIM,609140,OMIM:609140,1,COL8A2,"[FECD1, PPCD, PPCD2]",collagen type VIII alpha 2 chain,gene with protein product,1p34.3,The molecular basis of the disorder is known,Unknown,,120252,ENSG00000171812,,P25067,P25067,HGNC:2216 +GARD:0018214,Orphanet+OMIM,609141,OMIM:609141,1,ZEB1,"[AREB6, BZP, FECD6, NIL-2-A, ZEB, Zfhep, Zfhx1a]",zinc finger E-box binding homeobox 1,gene with protein product,10p11.22,The molecular basis of the disorder is known,Unknown,,189909,ENSG00000148516,,P37275,P37275,HGNC:11642 +GARD:0018215,Orphanet+OMIM,618031,OMIM:618031,1,GRHL2,"[BOM, FLJ13782, brother-of-MGR]",grainyhead like transcription factor 2,gene with protein product,8q22.3,The molecular basis of the disorder is known,Unknown,,608576,ENSG00000083307,,Q6ISB3,,HGNC:2799 +GARD:0018216,Orphanet+OMIM,136800,OMIM:136800,1,COL8A2,"[FECD1, PPCD, PPCD2]",collagen type VIII alpha 2 chain,gene with protein product,1p34.3,The molecular basis of the disorder is known,Unknown,,120252,ENSG00000171812,,P25067,P25067,HGNC:2216 +GARD:0018217,Orphanet+OMIM,610158,OMIM:610158,1,FECD2,[FCD1],"Corneal dystrophy, Fuchs endothelial, 2",unknown,13pter-q12.13,The disease phenotype itself was mapped,Unknown,,610158,,,,,GeneID:100188278 +GARD:0018218,Orphanet+OMIM,613267,OMIM:613267,1,TCF4,"[E2-2, ITF2, SEF2-1B, SL3-3 enhancer factor 2, bHLHb19, class B basic helix-loop-helix protein 19, immunoglobulin transcription factor 2]",transcription factor 4,gene with protein product,18q21.2,The molecular basis of the disorder is known,Unknown,,602272,ENSG00000196628,,P15884,P15884,HGNC:11634 +GARD:0018219,Orphanet+OMIM,613268,OMIM:613268,1,SLC4A11,"[BTR1, FECD4, NaBC1, bicarbonate transporter related protein 1, dJ794I6.2, sodium-coupled borate cotransporter 1]",solute carrier family 4 member 11,gene with protein product,20p13,The molecular basis of the disorder is known,Unknown,,610206,ENSG00000088836,objectId:913,Q8NBS3,,HGNC:16438 +GARD:0018220,Orphanet+OMIM,613269,OMIM:613269,1,FECD5,[FCD3],"Corneal dystrophy, Fuchs endothelial, 5",unknown,5q33.1-q35.2,The disease phenotype itself was mapped,Unknown,,613269,,,,,GeneID:100380874 +GARD:0018221,Orphanet+OMIM,613270,OMIM:613270,1,ZEB1,"[AREB6, BZP, FECD6, NIL-2-A, ZEB, Zfhep, Zfhx1a]",zinc finger E-box binding homeobox 1,gene with protein product,10p11.22,The molecular basis of the disorder is known,Unknown,,189909,ENSG00000148516,,P37275,P37275,HGNC:11642 +GARD:0018222,Orphanet+OMIM,613271,OMIM:613271,1,FECD7,[FCD4],"Corneal dystrophy, Fuchs endothelial, 7",unknown,9p24.1-p22.1,The disease phenotype itself was mapped,Unknown,,613271,,,,,GeneID:100380875 +GARD:0018223,Orphanet+OMIM,615523,OMIM:615523,1,AGBL1,"[CCP4, FLJ32310, cytosolic carboxypeptidase 4]",AGBL carboxypeptidase 1,gene with protein product,15q25.3,The molecular basis of the disorder is known,Unknown,,615496,ENSG00000273540,,Q96MI9,Q96MI9,HGNC:26504 +GARD:0018224,Orphanet+OMIM,231300,OMIM:231300,1,CYP1B1,[CP1B],cytochrome P450 family 1 subfamily B member 1,gene with protein product,2p22.2,The molecular basis of the disorder is known,Unknown,,601771,ENSG00000138061,objectId:1320,Q16678,Q16678,HGNC:2597 +GARD:0018225,Orphanet+OMIM,613085,OMIM:613085,1,GLC3C,,"Glaucoma 3, primary congenital, C",unknown,14q24.3,The disease phenotype itself was mapped,Unknown,,613085,,,,,GeneID:399565 +GARD:0018226,Orphanet+OMIM,613086,OMIM:613086,1,LTBP2,,latent transforming growth factor beta binding protein 2,gene with protein product,14q24.3,The molecular basis of the disorder is known,Unknown,,602091,ENSG00000119681,,Q14767,Q14767,HGNC:6715 +GARD:0018227,Orphanet+OMIM,617272,OMIM:617272,1,TEK,"[CD202b, TIE-2, TIE2, VMCM1, angiopoietin-1 receptor]",TEK receptor tyrosine kinase,gene with protein product,9p21.2,The molecular basis of the disorder is known,Unknown,,600221,ENSG00000120156,objectId:1842,Q02763,Q02763,HGNC:11724 +GARD:0018228,Orphanet+OMIM,608695,OMIM:608695,1,GLC1J,[JOAG2],"Glaucoma, primary open angle, juvenile-onset, 2",unknown,9q22,The disease phenotype itself was mapped,Unknown,,608695,,,,,GeneID:574078 +GARD:0018229,Orphanet+OMIM,608696,OMIM:608696,1,GLC1K,[JOAG3],"Glaucoma 1K, primary open angle, juvenile-onset",unknown,20p12,The disease phenotype itself was mapped,Unknown,,608696,,,,,GeneID:574077 +GARD:0018230,Orphanet+OMIM,610535,OMIM:610535,1,GLC1M,,"Glaucoma 1, open angle, M",unknown,5q22.1-q32,The disease phenotype itself was mapped,Unknown,,610535,,,,,GeneID:777643 +GARD:0018231,Orphanet+OMIM,611274,OMIM:611274,1,GLC1N,,"Glaucoma 1, open angle, N",unknown,15q22-q24,The disease phenotype itself was mapped,Unknown,,611274,,,,,GeneID:777645 +GARD:0018232,Orphanet+OMIM,605728,OMIM:605728,1,CTRCT25,[CCSSO],Cataract 25,unknown,15q21-q22,The disease phenotype itself was mapped,Unknown,,605728,,,,,GeneID:80770 +GARD:0018233,Orphanet+OMIM,115800,OMIM:115800,1,CTRCT29,,"Cataract 29, coralliform",unknown,2pter-p24,The disease phenotype itself was mapped,Unknown,,115800,,,,,GeneID:101867602 +GARD:0018234,Orphanet+OMIM,116400,OMIM:116400,1,WFS1,"[DIDMOAD, WFS]",wolframin ER transmembrane glycoprotein,gene with protein product,4p16.1,The molecular basis of the disorder is known,Unknown,,606201,ENSG00000109501,,O76024,O76024,HGNC:12762 +GARD:0018235,Orphanet+OMIM,607304,OMIM:607304,1,CTRCT27,[CCNP],"Cataract 27, nuclear progressive",unknown,2p12,The disease phenotype itself was mapped,Unknown,,607304,,,,,GeneID:266979 +GARD:0018236,Orphanet+OMIM,611391,OMIM:611391,1,BFSP1,"[CP115, CP94, LIFL-H, filensin]",beaded filament structural protein 1,gene with protein product,20p12.1,The molecular basis of the disorder is known,Unknown,,603307,ENSG00000125864,,Q12934,,HGNC:1040 +GARD:0018237,Orphanet+OMIM,169150,OMIM:169150,1,PRPH2,"[CACD2, TSPAN22, central areolar 2, choroidal dystrophy, rd2, retinal peripherin, tetraspanin-22]",peripherin 2,gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,179605,ENSG00000112619,,P23942,,HGNC:9942 +GARD:0018238,Orphanet+OMIM,608970,OMIM:608970,2,MDBS2,,"Macular dystrophy, butterfly-shaped pigmentary, 2",,5q21.3-q33.2,The disease phenotype itself was mapped,Unknown,,608970,,,,,OMIM:608970 +GARD:0018238,Orphanet+OMIM,608970,OMIM:608970,2,CTNNA1,"[CAP102, alpha-E-catenin]",catenin alpha 1,gene with protein product,5q31.2,The molecular basis of the disorder is known,Unknown,,116805,ENSG00000044115,,P35221,P35221,HGNC:2509 +GARD:0018241,Orphanet+OMIM,617175,OMIM:617175,1,RCBTB1,"[CLLD7, CLLL7, FLJ10716]",RCC1 and BTB domain containing protein 1,gene with protein product,13q14.2,The molecular basis of the disorder is known,Unknown,,607867,ENSG00000136144,,Q8NDN9,,HGNC:18243 +GARD:0018244,Orphanet+OMIM,106600,OMIM:106600,1,MSX1,"[HYD1, OFC5]",msh homeobox 1,gene with protein product,4p16.2,The molecular basis of the disorder is known,Unknown,,142983,ENSG00000163132,,P28360,,HGNC:7391 +GARD:0018245,Orphanet+OMIM,150400,OMIM:150400,1,WNT10A,,Wnt family member 10A,gene with protein product,2q35,The molecular basis of the disorder is known,Unknown,,606268,ENSG00000135925,ligandId:3687,Q9GZT5,Q9GZT5,HGNC:13829 +GARD:0018246,Orphanet+OMIM,313500,OMIM:313500,1,EDA,"[ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, HED, XHED, XLHED]",ectodysplasin A,gene with protein product,Xq13.1,The molecular basis of the disorder is known,Unknown,,300451,ENSG00000158813,ligandId:6144,Q92838,Q92838,HGNC:3157 +GARD:0018247,Orphanet+OMIM,604625,OMIM:604625,1,PAX9,,paired box 9,gene with protein product,14q13.3,The molecular basis of the disorder is known,Unknown,,167416,ENSG00000198807,,P55771,,HGNC:8623 +GARD:0018248,Orphanet+OMIM,610926,OMIM:610926,1,STHAG5,,"Tooth agenesis, selective, 5",unknown,10q11.2-q21,The disease phenotype itself was mapped,Unknown,,610926,,,,,GeneID:100188748 +GARD:0018249,Orphanet+OMIM,616724,OMIM:616724,1,LRP6,[ADCAD2],LDL receptor related protein 6,gene with protein product,12p13.2,The molecular basis of the disorder is known,Unknown,,603507,ENSG00000070018,,O75581,O75581,HGNC:6698 +GARD:0018250,Orphanet+OMIM,617073,OMIM:617073,1,WNT10B,"[SHFM6, WNT-12]",Wnt family member 10B,gene with protein product,12q13.12,The molecular basis of the disorder is known,Unknown,,601906,ENSG00000169884,ligandId:3688,O00744,O00744,HGNC:12775 +GARD:0018251,Orphanet+OMIM,268200,OMIM:268200,1,LPIN1,"[KIAA0188, phosphatidate phosphatase LPIN1]",lipin 1,gene with protein product,2p25.1,The molecular basis of the disorder is known,Unknown,,605518,ENSG00000134324,objectId:1435,Q14693,Q14693,HGNC:13345 +GARD:0018252,Orphanet+OMIM,615889,OMIM:615889,1,AARS2,"[KIAA1270, alanine tRNA ligase 2, bA444E17.1, mitochondrial]","alanyl-tRNA synthetase 2, mitochondrial",gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,612035,ENSG00000124608,,Q5JTZ9,Q5JTZ9,HGNC:21022 +GARD:0018253,Orphanet+OMIM,145000,OMIM:145000,1,CDC73,"[FIHP, Paf1/RNA polymerase II complex component, parafibromin]",cell division cycle 73,gene with protein product,1q31.2,The molecular basis of the disorder is known,Unknown,,607393,ENSG00000134371,,Q6P1J9,Q6P1J9,HGNC:16783 +GARD:0018255,Orphanet+OMIM,610071,OMIM:610071,1,HRPT3,,Hyperparathyroidism 3,unknown,2p14-p13.3,The disease phenotype itself was mapped,Unknown,,610071,,,,,GeneID:780919 +GARD:0018256,Orphanet+OMIM,617343,OMIM:617343,1,GCM2,[hGCMb],glial cells missing transcription factor 2,gene with protein product,6p24.2,The molecular basis of the disorder is known,Unknown,,603716,ENSG00000124827,,O75603,,HGNC:4198 +GARD:0018257,Orphanet+OMIM,618883,OMIM:618883,1,GCM2,[hGCMb],glial cells missing transcription factor 2,gene with protein product,6p24.2,The molecular basis of the disorder is known,Unknown,,603716,ENSG00000124827,,O75603,,HGNC:4198 +GARD:0018258,Orphanet+OMIM,617607,OMIM:617607,1,AMTN,"[RSTI689, UNQ689]",amelotin,gene with protein product,4q13.3,The molecular basis of the disorder is known,Unknown,,610912,ENSG00000187689,,Q6UX39,Q6UX39,HGNC:33188 +GARD:0018259,Orphanet+OMIM,300909,OMIM:300909,1,XPNPEP2,,X-prolyl aminopeptidase 2,gene with protein product,Xq26.1,The molecular basis of the disorder is known,Unknown,,300145,ENSG00000122121,objectId:1579,O43895,O43895,HGNC:12823 +GARD:0018260,Orphanet+OMIM,270420,OMIM:270420,1,SPINT2,"[HAI-2, HAI2, HGF activator inhibitor 2, Kop, Kunitz domain containing protein overexpressed in pancreatic cancer, hepatocyte growth factor activator inhibitor-2, placental bikunin]","serine peptidase inhibitor, Kunitz type 2",gene with protein product,19q13.2,The molecular basis of the disorder is known,Unknown,,605124,ENSG00000167642,,O43291,O43291,HGNC:11247 +GARD:0018261,Orphanet+OMIM,616868,OMIM:616868,1,SLC9A3,"[NHE-3, Sodium/hydrogen exchanger 3]",solute carrier family 9 member A3,gene with protein product,5p15.33,The molecular basis of the disorder is known,Unknown,,182307,ENSG00000066230,objectId:950,P48764,P48764,HGNC:11073 +GARD:0018262,Orphanet+OMIM,158590,OMIM:158590,1,HSPB8,"[CMT2L, E2IG1, H11, HSP22]",heat shock protein family B (small) member 8,gene with protein product,12q24.23,The molecular basis of the disorder is known,Unknown,,608014,ENSG00000152137,,Q9UJY1,Q9UJY1,HGNC:30171 +GARD:0018263,Orphanet+OMIM,608634,OMIM:608634,1,HSPB1,"[CMT2F, HSP27, HSP28, Hs.76067, Hsp25]",heat shock protein family B (small) member 1,gene with protein product,7q11.23,The molecular basis of the disorder is known,Unknown,,602195,ENSG00000106211,,P04792,P04792,HGNC:5246 +GARD:0018264,Orphanet+OMIM,613376,OMIM:613376,1,HSPB3,[HSPL27],heat shock protein family B (small) member 3,gene with protein product,5q11.2,The molecular basis of the disorder is known,Unknown,,604624,ENSG00000169271,,Q12988,,HGNC:5248 +GARD:0018265,Orphanet+OMIM,615575,OMIM:615575,1,FBXO38,"[FLJ13962, Fbx38, MOKA, SP329]",F-box protein 38,gene with protein product,5q32,The molecular basis of the disorder is known,Unknown,,608533,ENSG00000145868,,Q6PIJ6,,HGNC:28844 +GARD:0018266,Orphanet+OMIM,600794,OMIM:600794,1,GARS1,"[DSMAV, GlyRS, SMAD1, glycine tRNA ligase]",glycyl-tRNA synthetase 1,gene with protein product,7p14.3,The molecular basis of the disorder is known,Unknown,,600287,ENSG00000106105,,P41250,P41250,HGNC:4162 +GARD:0018267,Orphanet+OMIM,614751,OMIM:614751,1,REEP1,"[FLJ13110, SPG31, Yip2a, receptor expression enhancing protein 1]",receptor accessory protein 1,gene with protein product,2p11.2,The molecular basis of the disorder is known,Unknown,,609139,ENSG00000068615,,Q9H902,Q9H902,HGNC:25786 +GARD:0018268,Orphanet+OMIM,619112,OMIM:619112,1,BSCL2,[seipin],"BSCL2 lipid droplet biogenesis associated, seipin",gene with protein product,11q12.3,The molecular basis of the disorder is known,Unknown,,606158,ENSG00000168000,,Q96G97,,HGNC:15832 +GARD:0018269,Orphanet+OMIM,158580,OMIM:158580,1,SLC5A7,"[CHT1, ChT, High affinity choline transporter 1, hCHT]",solute carrier family 5 member 7,gene with protein product,2q12.3,The molecular basis of the disorder is known,Unknown,,608761,ENSG00000115665,objectId:914,Q9GZV3,Q9GZV3,HGNC:14025 +GARD:0018270,Orphanet+OMIM,607641,OMIM:607641,1,DCTN1,[p150 glued homolog (Drosophila)],dynactin subunit 1,gene with protein product,2p13.1,The molecular basis of the disorder is known,Unknown,,601143,ENSG00000204843,,Q14203,Q14203,HGNC:2711 +GARD:0018271,Orphanet+OMIM,613112,OMIM:613112,1,TUBB1,"[class VI beta-tubulin, dJ543J19.4]",tubulin beta 1 class VI,gene with protein product,20q13.32,The molecular basis of the disorder is known,Unknown,,612901,ENSG00000101162,,Q9H4B7,Q9H4B7,HGNC:16257 +GARD:0018272,Orphanet+OMIM,615193,OMIM:615193,1,ACTN1,,actinin alpha 1,gene with protein product,14q24.1,The molecular basis of the disorder is known,Unknown,,102575,ENSG00000072110,,P12814,P12814,HGNC:163 +GARD:0018273,Orphanet+OMIM,619271,OMIM:619271,1,ITGB3,"[CD61, GPIIIa, antigen CD61, platelet glycoprotein IIIa]",integrin subunit beta 3,gene with protein product,17q21.32,The molecular basis of the disorder is known,Unknown,,173470,ENSG00000259207,objectId:2457,P05106,P05106,HGNC:6156 +GARD:0018275,Orphanet+OMIM,607842,OMIM:607842,1,TSHZ1,"[NY-CO-33, TSH1]",teashirt zinc finger homeobox 1,gene with protein product,18q22.3,The molecular basis of the disorder is known,Unknown,,614427,ENSG00000179981,,Q6ZSZ6,,HGNC:10669 +GARD:0018276,Orphanet+OMIM,610069,OMIM:610069,1,BMPR1A,"[ALK3, CD292]",bone morphogenetic protein receptor type 1A,gene with protein product,10q23.2,The molecular basis of the disorder is known,Unknown,,601299,ENSG00000107779,objectId:1786,P36894,P36894,HGNC:1076 +GARD:0018277,Orphanet+OMIM,610313,OMIM:610313,1,CLCF1,"[B-cell stimulating factor 3, BSF-3, BSF3, CISS2, CLC, NNT-1, NNT1, NR6, cold-induced sweating syndrome 2, novel neurotrophin-1]",cardiotrophin like cytokine factor 1,gene with protein product,11q13.2,The molecular basis of the disorder is known,Unknown,,607672,ENSG00000175505,ligandId:4895,Q9UBD9,Q9UBD9,HGNC:17412 +GARD:0018278,Orphanet+OMIM,617055,OMIM:617055,1,KLHL7,"[KLHL6, RP42, SBBI26, retinitis pigmentosa 42]",kelch like family member 7,gene with protein product,7p15.3,The molecular basis of the disorder is known,Unknown,,611119,ENSG00000122550,,Q8IXQ5,,HGNC:15646 +GARD:0018279,Orphanet+OMIM,611630,OMIM:611630,1,FMTLE,[ETL3],"Epilepsy, familial temporal lobe, 3",unknown,4q13.2-q21.3,The disease phenotype itself was mapped,Unknown,,611630,,,,,GeneID:100188848 +GARD:0018280,Orphanet+OMIM,614417,OMIM:614417,1,CPA6,[CPAH],carboxypeptidase A6,gene with protein product,8q13.2,The molecular basis of the disorder is known,Unknown,,609562,ENSG00000165078,objectId:1592,Q8N4T0,,HGNC:17245 +GARD:0018281,Orphanet+OMIM,615697,OMIM:615697,1,ETL6,,"Epilepsy, familial temporal lobe, 6",unknown,3q25-q26,The disease phenotype itself was mapped,Unknown,,615697,,,,,GeneID:103106902 +GARD:0018282,Orphanet+OMIM,300643,OMIM:300643,1,SRPX2,[SRPUL],sushi repeat containing protein X-linked 2,gene with protein product,Xq22.1,The molecular basis of the disorder is known,Unknown,,300642,ENSG00000102359,,O60687,,HGNC:30668 +GARD:0018283,Orphanet+OMIM,614418,OMIM:614418,1,CPA6,[CPAH],carboxypeptidase A6,gene with protein product,8q13.2,The molecular basis of the disorder is known,Unknown,,609562,ENSG00000165078,objectId:1592,Q8N4T0,,HGNC:17245 +GARD:0018284,Orphanet+OMIM,163800,OMIM:163800,1,HCN4,,hyperpolarization activated cyclic nucleotide gated potassium channel 4,gene with protein product,15q24.1,The molecular basis of the disorder is known,Unknown,,605206,ENSG00000138622,objectId:403,Q9Y3Q4,Q9Y3Q4,HGNC:16882 +GARD:0018285,Orphanet+OMIM,614090,OMIM:614090,1,MYH6,"[cardiomyopathy, hypertrophic 1]",myosin heavy chain 6,gene with protein product,14q11.2,The molecular basis of the disorder is known,Unknown,,160710,ENSG00000197616,,P13533,P13533,HGNC:7576 +GARD:0018286,Orphanet+OMIM,613339,OMIM:613339,1,HWE1,,"Epilepsy, hot water, 1",unknown,10q21.3-q22.3,The disease phenotype itself was mapped,Unknown,,613339,,,,,GeneID:100415903 +GARD:0018287,Orphanet+OMIM,613340,OMIM:613340,1,HWE2,,"Epilepsy, hot water, 2",unknown,4q24-q28,The disease phenotype itself was mapped,Unknown,,613340,,,,,GeneID:100415904 +GARD:0018288,Orphanet+OMIM,273900,OMIM:273900,1,FYB1,"[ADAP, FYB-120/130, SLAP-130, adhesion and degranulation promoting adaptor protein]",FYN binding protein 1,gene with protein product,5p13.1,The molecular basis of the disorder is known,Unknown,,602731,ENSG00000082074,,O15117,O15117,HGNC:4036 +GARD:0018289,Orphanet+OMIM,612004,OMIM:612004,1,CYCS,"[CYC, HCS]","cytochrome c, somatic",gene with protein product,7p15.3,The molecular basis of the disorder is known,Unknown,,123970,ENSG00000172115,,P99999,P99999,HGNC:19986 +GARD:0018290,Orphanet+OMIM,610102,OMIM:610102,1,C7,,complement C7,gene with protein product,5p13.1,The molecular basis of the disorder is known,Unknown,,217070,ENSG00000112936,,P10643,P10643,HGNC:1346 +GARD:0018291,Orphanet+OMIM,612446,OMIM:612446,1,C6,,complement C6,gene with protein product,5p13.1,The molecular basis of the disorder is known,Unknown,,217050,ENSG00000039537,,P13671,P13671,HGNC:1339 +GARD:0018292,Orphanet+OMIM,613825,OMIM:613825,1,C9,,complement C9,gene with protein product,5p13.1,The molecular basis of the disorder is known,Unknown,,120940,ENSG00000113600,,P02748,P02748,HGNC:1358 +GARD:0018293,Orphanet+OMIM,608971,OMIM:608971,1,IL7R,"[CD127, IL7RA, lnc-IL7R]",interleukin 7 receptor,gene with protein product,5p13.2,The molecular basis of the disorder is known,Unknown,,146661,ENSG00000168685,objectId:1698,P16871,P16871,HGNC:6024 +GARD:0018294,Orphanet+OMIM,610163,OMIM:610163,1,CD247,"[CD3-ZETA, CD3H, CD3Q, CD3ZETA, T-cell surface glycoprotein CD3 zeta chain, TCRZ]",CD247 molecule,gene with protein product,1q24.2,The molecular basis of the disorder is known,Unknown,,186780,ENSG00000198821,objectId:3142,P20963,P20963,HGNC:1677 +GARD:0018295,Orphanet+OMIM,615615,OMIM:615615,1,CD3E,"[CD3-epsilon, CD3epsilon, T-cell surface glycoprotein CD3 epsilon chain]",CD3 epsilon subunit of T-cell receptor complex,gene with protein product,11q23.3,The molecular basis of the disorder is known,Unknown,,186830,ENSG00000198851,objectId:2742,P07766,P07766,HGNC:1674 +GARD:0018296,Orphanet+OMIM,615617,OMIM:615617,1,CD3D,"[CD3-DELTA, CD3DELTA, T-cell surface glycoprotein CD3 delta chain]",CD3 delta subunit of T-cell receptor complex,gene with protein product,11q23.3,The molecular basis of the disorder is known,Unknown,,186790,ENSG00000167286,,P04234,P04234,HGNC:1673 +GARD:0018297,Orphanet+OMIM,613658,OMIM:613658,1,FARSB,"[FRSB, PheHB, beta, cytoplasmic, phenylalanine tRNA ligase 1]",phenylalanyl-tRNA synthetase subunit beta,gene with protein product,2q36.1,The molecular basis of the disorder is known,Unknown,,609690,ENSG00000116120,,Q9NSD9,Q9NSD9,HGNC:17800 +GARD:0018298,Orphanet+OMIM,619013,OMIM:619013,1,FARSA,"[CML33, alpha, cytoplasmic, phenylalanine tRNA ligase 1]",phenylalanyl-tRNA synthetase subunit alpha,gene with protein product,19p13.13,The molecular basis of the disorder is known,Unknown,,602918,ENSG00000179115,,Q9Y285,Q9Y285,HGNC:3592 +GARD:0018299,Orphanet+OMIM,608203,OMIM:608203,1,RAC2,[EN-7],Rac family small GTPase 2,gene with protein product,22q13.1,The molecular basis of the disorder is known,Unknown,,602049,ENSG00000128340,ligandId:5251,P15153,P15153,HGNC:9802 +GARD:0018300,Orphanet+OMIM,618987,OMIM:618987,1,RAC2,[EN-7],Rac family small GTPase 2,gene with protein product,22q13.1,The molecular basis of the disorder is known,Unknown,,602049,ENSG00000128340,ligandId:5251,P15153,P15153,HGNC:9802 +GARD:0018301,Orphanet+OMIM,115300,OMIM:115300,1,BCO1,"[BCMO, FLJ10730]",beta-carotene oxygenase 1,gene with protein product,16q23.2,The molecular basis of the disorder is known,Unknown,,605748,ENSG00000135697,,Q9HAY6,Q9HAY6,HGNC:13815 +GARD:0018303,Orphanet+OMIM,600625,OMIM:600625,1,BMP4,,bone morphogenetic protein 4,gene with protein product,14q22.2,The molecular basis of the disorder is known,Unknown,,112262,ENSG00000125378,ligandId:4883,P12644,P12644,HGNC:1071 +GARD:0018304,Orphanet+OMIM,608864,OMIM:608864,1,IRF6,"[OFC6, VWS1]",interferon regulatory factor 6,gene with protein product,1q32.2,The molecular basis of the disorder is known,Unknown,,607199,ENSG00000117595,,O14896,O14896,HGNC:6121 +GARD:0018305,Orphanet+OMIM,608874,OMIM:608874,1,MSX1,"[HYD1, OFC5]",msh homeobox 1,gene with protein product,4p16.2,The molecular basis of the disorder is known,Unknown,,142983,ENSG00000163132,,P28360,,HGNC:7391 +GARD:0018306,Orphanet+OMIM,613705,OMIM:613705,1,SUMO1,"[GMP1, OFC10, PIC1, SMT3C, SMT3H3, SUMO-1]",small ubiquitin like modifier 1,gene with protein product,2q33.1,The molecular basis of the disorder is known,Unknown,,601912,ENSG00000116030,,P63165,P63165,HGNC:12502 +GARD:0018307,Orphanet+OMIM,616788,OMIM:616788,1,DLX4,"[BP1, DLX8]",distal-less homeobox 4,gene with protein product,17q21.33,The molecular basis of the disorder is known,Unknown,,601911,ENSG00000108813,,Q92988,,HGNC:2917 +GARD:0018308,Orphanet+OMIM,618149,OMIM:618149,1,TP63,"[EEC3, KET, NBP, OFC8, SHFM4, p40, p51, p53CP, p63, p73H, p73L]",tumor protein p63,gene with protein product,3q28,The molecular basis of the disorder is known,Unknown,,603273,ENSG00000073282,,Q9H3D4,Q9H3D4,HGNC:15979 +GARD:0018309,Orphanet+OMIM,612900,OMIM:612900,1,KANK1,"[KANK, KIAA0172]",KN motif and ankyrin repeat domains 1,gene with protein product,9p24.3,The molecular basis of the disorder is known,Unknown,,607704,ENSG00000107104,,Q14678,Q14678,HGNC:19309 +GARD:0018310,Orphanet+OMIM,617008,OMIM:617008,1,ADD3,[gamma-adducin],adducin 3,gene with protein product,10q25.1-q25.2,The molecular basis of the disorder is known,Unknown,,601568,ENSG00000148700,,Q9UEY8,Q9UEY8,HGNC:245 +GARD:0018311,Orphanet+OMIM,245590,OMIM:245590,1,STAT5B,,signal transducer and activator of transcription 5B,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,604260,ENSG00000173757,,P51692,P51692,HGNC:11367 +GARD:0018312,Orphanet+OMIM,618985,OMIM:618985,1,STAT5B,,signal transducer and activator of transcription 5B,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,604260,ENSG00000173757,,P51692,P51692,HGNC:11367 +GARD:0018313,Orphanet+OMIM,603284,OMIM:603284,1,CCM2,"[MGC4607, OSM, malcavernin, osmosensing scaffold for MEKK3]",CCM2 scaffold protein,gene with protein product,7p13,The molecular basis of the disorder is known,Unknown,,607929,ENSG00000136280,,Q9BSQ5,,HGNC:21708 +GARD:0018314,Orphanet+OMIM,603285,OMIM:603285,1,PDCD10,[TFAR15],programmed cell death 10,gene with protein product,3q26.1,The molecular basis of the disorder is known,Unknown,,609118,ENSG00000114209,,Q9BUL8,,HGNC:8761 +GARD:0018316,Orphanet+OMIM,619115,OMIM:619115,1,COL1A1,[OI4],collagen type I alpha 1 chain,gene with protein product,17q21.33,The molecular basis of the disorder is known,Unknown,,120150,ENSG00000108821,ligandId:4898,P02452,P02452,HGNC:2197 +GARD:0018317,Orphanet+OMIM,619120,OMIM:619120,1,COL1A2,"[alpha 2(I)-collagen, alpha-2 chain, alpha-2 collagen type I, alpha-2 polypeptide, collagen I, collagen of skin, tendon and bone, type I procollagen]",collagen type I alpha 2 chain,gene with protein product,7q21.3,The molecular basis of the disorder is known,Unknown,,120160,ENSG00000164692,,P08123,P08123,HGNC:2198 +GARD:0018318,Orphanet+OMIM,609322,OMIM:609322,1,SMARCB1,"[BAF47, INI-1, Ini1, PPP1R144, RDT, SNF5, Sfh1p, Snr1, hSNFS, homolog-like 1, integrase interactor 1, malignant rhabdoid tumor suppressor, protein phosphatase 1, regulatory subunit 144, sucrose nonfermenting, yeast]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1",gene with protein product,22q11.23,The molecular basis of the disorder is known,Unknown,,601607,ENSG00000099956,,Q12824,Q12824,HGNC:11103 +GARD:0018319,Orphanet+OMIM,613325,OMIM:613325,1,SMARCA4,"[ATP-dependent helicase SMARCA4, BAF190, BRG1, BRM/SWI2-related gene 1, FLJ39786, SNF2, SNF2-BETA, SNF2-like 4, SNF2LB, SWI2, brahma protein-like 1, global transcription activator homologous sequence, hSNF2b, homeotic gene regulator, mitotic growth and transcription activator, nuclear protein GRB1, sucrose nonfermenting-like 4]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4",gene with protein product,19p13.2,The molecular basis of the disorder is known,Unknown,,603254,ENSG00000127616,objectId:2740,P51532,P51532,HGNC:11100 +GARD:0018320,Orphanet+OMIM,105800,OMIM:105800,1,ANIB1,,"Aneurysm, intracranial berry, 1",unknown,7q11.2,The disease phenotype itself was mapped,Unknown,,105800,,,,,GeneID:116833 +GARD:0018321,Orphanet+OMIM,300870,OMIM:300870,1,ANIB5,,"Aneurysm, intracranial berry, 5",,Xp22,The disease phenotype itself was mapped,Unknown,,300870,,,,,OMIM:300870 +GARD:0018322,Orphanet+OMIM,609122,OMIM:609122,1,ANIB3,,"Aneurysm, intracranial berry, 3",unknown,1p36.13-p34.3,The disease phenotype itself was mapped,Unknown,,609122,,,,,GeneID:497657 +GARD:0018323,Orphanet+OMIM,610213,OMIM:610213,1,ANIB4,,"Aneurysm, intracranial berry, 4",unknown,5p15.2-p14.3,The disease phenotype itself was mapped,Unknown,,610213,,,,,GeneID:724058 +GARD:0018324,Orphanet+OMIM,611892,OMIM:611892,1,ANIB6,,"Aneurysm, intracranial berry, 6",unknown,9p21,The disease phenotype itself was mapped,Unknown,,611892,,,,,GeneID:100188858 +GARD:0018325,Orphanet+OMIM,612161,OMIM:612161,1,ANIB7,,"Aneurysm, intracranial berry, 7",unknown,11q24-q25,The disease phenotype itself was mapped,Unknown,,612161,,,,,GeneID:100188885 +GARD:0018326,Orphanet+OMIM,612162,OMIM:612162,1,ANIB8,,"Aneurysm, intracranial berry, 8",unknown,14q23,The disease phenotype itself was mapped,Unknown,,612162,,,,,GeneID:100188886 +GARD:0018327,Orphanet+OMIM,612586,OMIM:612586,1,ANIB9,,"Aneurysm, intracranial berry, 9",unknown,2q33.1,The disease phenotype itself was mapped,Unknown,,612586,,,,,GeneID:100271688 +GARD:0018328,Orphanet+OMIM,612587,OMIM:612587,1,ANIB10,,"Aneurysm, intracranial berry, 10",unknown,8q12.1,The disease phenotype itself was mapped,Unknown,,612587,,,,,GeneID:100271689 +GARD:0018329,Orphanet+OMIM,614252,OMIM:614252,1,ANIB11,,"Aneurysm, intracranial berry, 11",unknown,8p22,The disease phenotype itself was mapped,Unknown,,614252,,,,,GeneID:100750328 +GARD:0018330,Orphanet+OMIM,618734,OMIM:618734,1,THSD1,[TMTSP],thrombospondin type 1 domain containing 1,gene with protein product,13q14.3,The molecular basis of the disorder is known,Unknown,,616821,ENSG00000136114,,Q9NS62,Q9NS62,HGNC:17754 +GARD:0018331,Orphanet+OMIM,203300,OMIM:203300,1,HPS1,[BLOC3S1],HPS1 biogenesis of lysosomal organelles complex 3 subunit 1,gene with protein product,10q24.2,The molecular basis of the disorder is known,Unknown,,604982,ENSG00000107521,,Q92902,Q92902,HGNC:5163 +GARD:0018332,Orphanet+OMIM,614073,OMIM:614073,1,HPS4,"[BLOC3S2, KIAA1667, LE]",HPS4 biogenesis of lysosomal organelles complex 3 subunit 2,gene with protein product,22q12.1,The molecular basis of the disorder is known,Unknown,,606682,ENSG00000100099,,Q9NQG7,Q9NQG7,HGNC:15844 +GARD:0018333,Orphanet+OMIM,614072,OMIM:614072,1,HPS3,"[BLOC2S1, SUTAL]",HPS3 biogenesis of lysosomal organelles complex 2 subunit 1,gene with protein product,3q24,The molecular basis of the disorder is known,Unknown,,606118,ENSG00000163755,,Q969F9,,HGNC:15597 +GARD:0018334,Orphanet+OMIM,614074,OMIM:614074,1,HPS5,"[AIBP63, BLOC2S2, RU2, Ruby-eye protein 2 homolog, alpha-integrin-binding protein 63]",HPS5 biogenesis of lysosomal organelles complex 2 subunit 2,gene with protein product,11p15.1,The molecular basis of the disorder is known,Unknown,,607521,ENSG00000110756,,Q9UPZ3,,HGNC:17022 +GARD:0018335,Orphanet+OMIM,614075,OMIM:614075,1,HPS6,"[BLOC2S3, FLJ22501]",HPS6 biogenesis of lysosomal organelles complex 2 subunit 3,gene with protein product,10q24.32,The molecular basis of the disorder is known,Unknown,,607522,ENSG00000166189,,Q86YV9,,HGNC:18817 +GARD:0018336,Orphanet+OMIM,614076,OMIM:614076,1,DTNBP1,"[BLOC1S8, DBND, Dysbindin, HPS7, My031, biogenesis of lysosomal organelles complex-1, dysbindin-1, subunit 8]",dystrobrevin binding protein 1,gene with protein product,6p22.3,The molecular basis of the disorder is known,Unknown,,607145,ENSG00000047579,,Q96EV8,Q96EV8,HGNC:17328 +GARD:0018337,Orphanet+OMIM,614077,OMIM:614077,1,BLOC1S3,"[BLOC-1 subunit 3, BLOS3, Biogenesis of Lysosome-related Organelles complex-1 Subunit 3, HPS8, Hermansky-Pudlak syndrome 8]",biogenesis of lysosomal organelles complex 1 subunit 3,gene with protein product,19q13.32,The molecular basis of the disorder is known,Unknown,,609762,ENSG00000189114,,Q6QNY0,Q6QNY0,HGNC:20914 +GARD:0018338,Orphanet+OMIM,614171,OMIM:614171,1,BLOC1S6,"[BLOC-1 subunit pallidin, HPS9]",biogenesis of lysosomal organelles complex 1 subunit 6,gene with protein product,15q21.1,The molecular basis of the disorder is known,Unknown,,604310,ENSG00000104164,,Q9UL45,Q9UL45,HGNC:8549 +GARD:0018339,Orphanet+OMIM,619172,OMIM:619172,1,BLOC1S5,"[MU, dJ303A1.3]",biogenesis of lysosomal organelles complex 1 subunit 5,gene with protein product,6p24.3,The molecular basis of the disorder is known,Unknown,,607289,ENSG00000188428,,Q8TDH9,,HGNC:18561 +GARD:0018340,Orphanet+OMIM,607748,OMIM:607748,1,TJP2,"[Friedreich ataxia region gene X104 (tight junction protein ZO-2), X104, ZO-2, ZO2, zona occludens 2]",tight junction protein 2,gene with protein product,9q21.11,The molecular basis of the disorder is known,Unknown,,607709,ENSG00000119139,,Q9UDY2,Q9UDY2,HGNC:11828 +GARD:0018341,Orphanet+OMIM,619256,OMIM:619256,1,SLC10A1,"[NTCP, NTCP1, Na+/taurocholate cotransporting polypeptide]",solute carrier family 10 member 1,gene with protein product,14q24.1,The molecular basis of the disorder is known,Unknown,,182396,ENSG00000100652,objectId:959,Q14973,Q14973,HGNC:10905 +GARD:0018342,Orphanet+OMIM,612567,OMIM:612567,1,IL10RB,"[CDW210B, CRF2-4, IL-10R2]",interleukin 10 receptor subunit beta,gene with protein product,21q22.11,The molecular basis of the disorder is known,Unknown,,123889,ENSG00000243646,objectId:1728,Q08334,Q08334,HGNC:5965 +GARD:0018343,Orphanet+OMIM,613148,OMIM:613148,1,IL10RA,"[CD210, CD210a, CDW210A, HIL-10R]",interleukin 10 receptor subunit alpha,gene with protein product,11q23.3,The molecular basis of the disorder is known,Unknown,,146933,ENSG00000110324,objectId:1727,Q13651,Q13651,HGNC:5964 +GARD:0018344,Orphanet+OMIM,609454,OMIM:609454,1,PSNP2,,"Supranuclear palsy, progressive, 2",unknown,1q31.1,The disease phenotype itself was mapped,Unknown,,609454,,,,,GeneID:619408 +GARD:0018345,Orphanet+OMIM,610898,OMIM:610898,1,PSNP3,,"Supranuclear palsy, progressive, 3",unknown,11p12-p11,The disease phenotype itself was mapped,Unknown,,610898,,,,,GeneID:100038248 +GARD:0018346,Orphanet+OMIM,612286,OMIM:612286,1,SLC34A1,"[NAPI-3, NPTIIa, Na+-phosphate cotransporter type II, SLC11, member 2, sodium/phosphate co-transporter, solute carrier family 17 (sodium phosphate)]",solute carrier family 34 member 1,gene with protein product,5q35.3,The molecular basis of the disorder is known,Unknown,,182309,ENSG00000131183,objectId:1135,Q06495,Q06495,HGNC:11019 +GARD:0018347,Orphanet+OMIM,612287,OMIM:612287,1,NHERF1,"[EBP50, NHE-RF, NHERF, NHERF-1, Na(+)/H(+) exchange regulatory cofactor 1, ezrin-radixin-moesin-binding phosphoprotein 50]",NHERF family PDZ scaffold protein 1,gene with protein product,17q25.1,The molecular basis of the disorder is known,Unknown,,604990,ENSG00000109062,,O14745,,HGNC:11075 +GARD:0018348,Orphanet+OMIM,615851,OMIM:615851,1,VPS53,"[FLJ10979, HCCS1, hepatocellular carcinoma suppressor 1]",VPS53 subunit of GARP complex,gene with protein product,17p13.3,The molecular basis of the disorder is known,Unknown,,615850,ENSG00000141252,,Q5VIR6,Q5VIR6,HGNC:25608 +GARD:0018349,Orphanet+OMIM,239300,OMIM:239300,1,PIGV,"[FLJ20477, GPI mannosyltransferase 2, GPI-MT-II, PIG-V, dol-P-Man dependent GPI mannosyltransferase II]",phosphatidylinositol glycan anchor biosynthesis class V,gene with protein product,1p36.11,The molecular basis of the disorder is known,Unknown,,610274,ENSG00000060642,,Q9NUD9,Q9NUD9,HGNC:26031 +GARD:0018350,Orphanet+OMIM,614207,OMIM:614207,1,PGAP2,"[CWH43-N, FGF receptor activating protein 1, FRAG1, cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)]",post-GPI attachment to proteins 2,gene with protein product,11p15.4,The molecular basis of the disorder is known,Unknown,,615187,ENSG00000148985,,Q9UHJ9,,HGNC:17893 +GARD:0018351,Orphanet+OMIM,614749,OMIM:614749,1,PIGO,"[DKFZp434M222, FLJ00135, PIG-O]",phosphatidylinositol glycan anchor biosynthesis class O,gene with protein product,9p13.3,The molecular basis of the disorder is known,Unknown,,614730,ENSG00000165282,,Q8TEQ8,Q8TEQ8,HGNC:23215 +GARD:0018352,Orphanet+OMIM,615716,OMIM:615716,1,PGAP3,"[CAB2, MGC9753, PER1, PP1498, post-GPI attachment to proteins 3]",post-GPI attachment to proteins phospholipase 3,gene with protein product,17q12,The molecular basis of the disorder is known,Unknown,,611801,ENSG00000161395,,Q96FM1,,HGNC:23719 +GARD:0018353,Orphanet+OMIM,616025,OMIM:616025,1,PIGW,"[FLJ37433, GPI-anchored wall protein transfer 1 homolog (S. cerevisiae), Gwt1, PIG-W]",phosphatidylinositol glycan anchor biosynthesis class W,gene with protein product,17q12,The molecular basis of the disorder is known,Unknown,,610275,ENSG00000277161,,Q7Z7B1,Q7Z7B1,HGNC:23213 +GARD:0018354,Orphanet+OMIM,616809,OMIM:616809,1,PIGY,"[MGC14156, PIG-Y, Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y]",phosphatidylinositol glycan anchor biosynthesis class Y,gene with protein product,4q22.1,The molecular basis of the disorder is known,Unknown,,610662,ENSG00000255072,,Q3MUY2,Q3MUY2,HGNC:28213 +GARD:0018355,Orphanet+OMIM,609820,OMIM:609820,1,EGLN1,"[HIF prolyl hydroxylase 2, HIFPH2, PHD2, SM-20, ZMYND6]",egl-9 family hypoxia inducible factor 1,gene with protein product,1q42.2,The molecular basis of the disorder is known,Unknown,,606425,ENSG00000135766,objectId:2833,Q9GZT9,Q9GZT9,HGNC:1232 +GARD:0018356,Orphanet+OMIM,611783,OMIM:611783,1,EPAS1,"[HIF-1 alpha-like factor, HIF2A, HLF, MOP2, PASD2, bHLHe73]",endothelial PAS domain protein 1,gene with protein product,2p21,The molecular basis of the disorder is known,Unknown,,603349,ENSG00000116016,objectId:3148,Q99814,Q99814,HGNC:3374 +GARD:0018357,Orphanet+OMIM,617626,OMIM:617626,1,REST,"[NRSF, XBR, neuron-restrictive silencer factor]",RE1 silencing transcription factor,gene with protein product,4q12,The molecular basis of the disorder is known,Unknown,,600571,ENSG00000084093,,Q13127,Q13127,HGNC:9966 +GARD:0018358,Orphanet+OMIM,614134,OMIM:614134,1,COL9A1,,collagen type IX alpha 1 chain,gene with protein product,6q13,The molecular basis of the disorder is known,Unknown,,120210,ENSG00000112280,,P20849,P20849,HGNC:2217 +GARD:0018359,Orphanet+OMIM,614284,OMIM:614284,1,COL9A2,[MED],collagen type IX alpha 2 chain,gene with protein product,1p34.2,The molecular basis of the disorder is known,Unknown,,120260,ENSG00000049089,,Q14055,Q14055,HGNC:2218 +GARD:0018360,Orphanet+OMIM,615542,OMIM:615542,1,GATA4,,GATA binding protein 4,gene with protein product,8p23.1,The molecular basis of the disorder is known,Unknown,,600576,ENSG00000136574,,P43694,P43694,HGNC:4173 +GARD:0018361,Orphanet+OMIM,616067,OMIM:616067,1,ZFPM2,"[FOG2, ZC2HC11B, ZNF89B, hFOG-2]","zinc finger protein, FOG family member 2",gene with protein product,8q23.1,The molecular basis of the disorder is known,Unknown,,603693,ENSG00000169946,,Q8WW38,Q8WW38,HGNC:16700 +GARD:0018362,Orphanet+OMIM,619096,OMIM:619096,1,MSH2,"[DNA mismatch repair protein Msh2, HNPCC, HNPCC1, MSH-2]",mutS homolog 2,gene with protein product,2p21-p16.3,The molecular basis of the disorder is known,Unknown,,609309,ENSG00000095002,,P43246,P43246,HGNC:7325 +GARD:0018363,Orphanet+OMIM,619097,OMIM:619097,1,MSH6,[MSH-6],mutS homolog 6,gene with protein product,2p16.3,The molecular basis of the disorder is known,Unknown,,600678,ENSG00000116062,,P52701,P52701,HGNC:7329 +GARD:0018364,Orphanet+OMIM,619101,OMIM:619101,1,PMS2,"[HNPCC4, H_DJ0042M02.9, MLH4, PMS-2]","PMS1 homolog 2, mismatch repair system component",gene with protein product,7p22.1,The molecular basis of the disorder is known,Unknown,,600259,ENSG00000122512,,P54278,P54278,HGNC:9122 +GARD:0018365,Orphanet+OMIM,231090,OMIM:231090,1,NLRP7,"[CLR19.4, NOD12, PAN7, PYPAF3, leucine rich repeat and pyrin domain containing 7, nucleotide-binding oligomerization domain]",NLR family pyrin domain containing 7,gene with protein product,19q13.42,The molecular basis of the disorder is known,Unknown,,609661,ENSG00000167634,objectId:1774,Q8WX94,,HGNC:22947 +GARD:0018366,Orphanet+OMIM,614293,OMIM:614293,1,KHDC3L,"[ECAT1, ES cell associated transcript 1]","KH domain containing 3 like, subcortical maternal complex member",gene with protein product,6q13,The molecular basis of the disorder is known,Unknown,,611687,ENSG00000203908,,Q587J8,,HGNC:33699 +GARD:0018367,Orphanet+OMIM,618431,OMIM:618431,1,MEI1,"[MGC40042, SPATA38, spermatogenesis associated 38]",meiotic double-stranded break formation protein 1,gene with protein product,22q13.2,The molecular basis of the disorder is known,Unknown,,608797,ENSG00000167077,,Q5TIA1,,HGNC:28613 +GARD:0018368,Orphanet+OMIM,618432,OMIM:618432,1,C11orf80,"[FLJ22531, TOPOVIBL]",chromosome 11 open reading frame 80,gene with protein product,11q13.2,The molecular basis of the disorder is known,Unknown,,616109,ENSG00000173715,,Q8N6T0,,HGNC:26197 +GARD:0018369,Orphanet+OMIM,609560,OMIM:609560,1,TK2,"[SCA31, mitochondrial thymidine kinase]",thymidine kinase 2,gene with protein product,16q21,The molecular basis of the disorder is known,Unknown,,188250,ENSG00000166548,,O00142,O00142,HGNC:11831 +GARD:0018370,Orphanet+OMIM,618972,OMIM:618972,1,SLC25A10,,solute carrier family 25 member 10,gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,606794,ENSG00000183048,objectId:1052,Q9UBX3,Q9UBX3,HGNC:10980 +GARD:0018371,Orphanet+OMIM,618235,OMIM:618235,1,NDUFA2,"[B8, complex I B8 subunit]",NADH:ubiquinone oxidoreductase subunit A2,gene with protein product,5q31.3,The molecular basis of the disorder is known,Unknown,,602137,ENSG00000131495,,O43678,O43678,HGNC:7685 +GARD:0018372,Orphanet+OMIM,618239,OMIM:618239,1,NDUFAF6,[MGC40214],NADH:ubiquinone oxidoreductase complex assembly factor 6,gene with protein product,8q22.1,The molecular basis of the disorder is known,Unknown,,612392,ENSG00000156170,,Q330K2,Q330K2,HGNC:28625 +GARD:0018373,Orphanet+OMIM,618243,OMIM:618243,1,NDUFA10,"[CI-42k, complex I 42kDa subunit]",NADH:ubiquinone oxidoreductase subunit A10,gene with protein product,2q37.3,The molecular basis of the disorder is known,Unknown,,603835,ENSG00000130414,,O95299,O95299,HGNC:7684 +GARD:0018374,Orphanet+OMIM,618244,OMIM:618244,1,NDUFA12,"[B17.2, DAP13, complex I B17.2 subunit]",NADH:ubiquinone oxidoreductase subunit A12,gene with protein product,12q22,The molecular basis of the disorder is known,Unknown,,614530,ENSG00000184752,,Q9UI09,Q9UI09,HGNC:23987 +GARD:0018375,Orphanet+OMIM,618248,OMIM:618248,1,MTFMT,[FMT1],mitochondrial methionyl-tRNA formyltransferase,gene with protein product,15q22.31,The molecular basis of the disorder is known,Unknown,,611766,ENSG00000103707,,Q96DP5,Q96DP5,HGNC:29666 +GARD:0018376,Orphanet+OMIM,618249,OMIM:618249,1,NDUFA13,"[B16.6, CDA016, CGI-39, GRIM-19, GRIM19, complex I B16.6 subunit]",NADH:ubiquinone oxidoreductase subunit A13,gene with protein product,19p13.11,The molecular basis of the disorder is known,Unknown,,609435,ENSG00000186010,,Q9P0J0,Q9P0J0,HGNC:17194 +GARD:0018377,Orphanet+OMIM,618257,OMIM:618257,1,BDP1,"[HSA238520, KIAA1241, KIAA1689, TFC5, TFIIIB150, TFIIIB90]","B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB",gene with protein product,5q13.2,The molecular basis of the disorder is known,Unknown,,607012,ENSG00000145734,,A6H8Y1,A6H8Y1,HGNC:13652 +GARD:0018378,Orphanet+OMIM,607426,OMIM:607426,1,COQ2,"[4-hydroxybenzoate polyprenyltransferase, CL640, FLJ26072]","coenzyme Q2, polyprenyltransferase",gene with protein product,4q21.23,The molecular basis of the disorder is known,Unknown,,609825,ENSG00000173085,,Q96H96,Q96H96,HGNC:25223 +GARD:0018379,Orphanet+OMIM,614652,OMIM:614652,1,PDSS2,"[COQ1B, bA59I9.3]",decaprenyl diphosphate synthase subunit 2,gene with protein product,6q21,The molecular basis of the disorder is known,Unknown,,610564,ENSG00000164494,,Q86YH6,Q86YH6,HGNC:23041 +GARD:0018380,Orphanet+OMIM,182170,OMIM:182170,1,HSPA9,"[75 kDa glucose-regulated protein, GRP75, PBP74, Stress-70 protein, mitochondrial, mortalin, mortalin2, mot-2, mthsp75]",heat shock protein family A (Hsp70) member 9,gene with protein product,5q31.2,The molecular basis of the disorder is known,Unknown,,600548,ENSG00000113013,,P38646,P38646,HGNC:5244 +GARD:0018381,Orphanet+OMIM,205950,OMIM:205950,1,SLC25A38,"[FLJ20551, Mitochondrial glycine transporter]",solute carrier family 25 member 38,gene with protein product,3p22.1,The molecular basis of the disorder is known,Unknown,,610819,ENSG00000144659,objectId:1089,Q96DW6,,HGNC:26054 +GARD:0018382,Orphanet+OMIM,617768,OMIM:617768,1,KMT2C,"[HALR, Histone-lysine N-methyltransferase 2C, KIAA1506]",lysine methyltransferase 2C,gene with protein product,7q36.1,The molecular basis of the disorder is known,Unknown,,606833,ENSG00000055609,objectId:2690,Q8NEZ4,Q8NEZ4,HGNC:13726 +GARD:0018383,Orphanet+OMIM,619082,OMIM:619082,1,ARL2,[ARFL2],ADP ribosylation factor like GTPase 2,gene with protein product,11q13.1,The molecular basis of the disorder is known,Unknown,,601175,ENSG00000213465,,P36404,P36404,HGNC:693 +GARD:0018384,Orphanet+OMIM,614212,OMIM:614212,1,CPT2,[CPTASE],carnitine palmitoyltransferase 2,gene with protein product,1p32.3,The molecular basis of the disorder is known,Unknown,,600650,ENSG00000157184,,P23786,P23786,HGNC:2330 +GARD:0018385,Orphanet+OMIM,607174,OMIM:607174,6,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,The molecular basis of the disorder is known,Unknown,,601728,ENSG00000171862,objectId:2497,P60484,P60484,HGNC:9588 +GARD:0018385,Orphanet+OMIM,607174,OMIM:607174,6,PDGFB,"[SSV, becaplermin, oncogene SIS]",platelet derived growth factor subunit B,gene with protein product,22q13.1,The molecular basis of the disorder is known,Unknown,,190040,ENSG00000100311,ligandId:5043,P01127,P01127,HGNC:8800 +GARD:0018385,Orphanet+OMIM,607174,OMIM:607174,6,NF2,"[ACN, BANF, SCH, bilateral acoustic neurofibromatosis, merlin, merlin-1, moesin-ezrin-radixin like, schwannomin]","NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor",gene with protein product,22q12.2,The molecular basis of the disorder is known,Unknown,,607379,ENSG00000186575,,P35240,P35240,HGNC:7773 +GARD:0018385,Orphanet+OMIM,607174,OMIM:607174,6,MN1,"[MGCR1, MGCR1-PEN, probable tumor suppressor protein MN1]","MN1 proto-oncogene, transcriptional regulator",gene with protein product,22q12.1,The molecular basis of the disorder is known,Unknown,,156100,ENSG00000169184,,Q10571,,HGNC:7180 +GARD:0018385,Orphanet+OMIM,607174,OMIM:607174,6,SUFU,"[PRO1280, SUFUH, SUFUXL]",SUFU negative regulator of hedgehog signaling,gene with protein product,10q24.32,The molecular basis of the disorder is known,Unknown,,607035,ENSG00000107882,,Q9UMX1,Q9UMX1,HGNC:16466 +GARD:0018385,Orphanet+OMIM,607174,OMIM:607174,6,SMARCE1,[BAF57],"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1",gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,603111,ENSG00000073584,,Q969G3,Q969G3,HGNC:11109 +GARD:0018386,Orphanet+OMIM,306000,OMIM:306000,1,PHKA2,,phosphorylase kinase regulatory subunit alpha 2,gene with protein product,Xp22.13,The molecular basis of the disorder is known,Unknown,,300798,ENSG00000044446,,P46019,P46019,HGNC:8926 +GARD:0018387,Orphanet+OMIM,613027,OMIM:613027,1,PHKG2,,phosphorylase kinase catalytic subunit gamma 2,gene with protein product,16p11.2,The molecular basis of the disorder is known,Unknown,,172471,ENSG00000156873,objectId:2147,P15735,P15735,HGNC:8931 +GARD:0018388,Orphanet+OMIM,615135,OMIM:615135,1,PPM1K,"[BDP, DKFZp761G058, PP2C-type mitochondrial phosphoprotein phosphatase, PP2Ckappa, PP2Cm, branched-chain α-ketoacid dehydrogenase phosphatase, hPTMP, protein phosphatase 2C kappa]","protein phosphatase, Mg2+/Mn2+ dependent 1K",gene with protein product,4q22.1,The molecular basis of the disorder is known,Unknown,,611065,ENSG00000163644,,Q8N3J5,Q8N3J5,HGNC:25415 +GARD:0018389,Orphanet+OMIM,189800,OMIM:189800,2,PEE1,[PREG1],Preeclampsia/eclampsia 1,unknown,2p13,The disease phenotype itself was mapped,Unknown,,189800,,,,,GeneID:5177 +GARD:0018389,Orphanet+OMIM,189800,OMIM:189800,2,NOS3,"[ECNOS, eNOS, endothelial nitric oxide synthase]",nitric oxide synthase 3,gene with protein product,7q36.1,The molecular basis of the disorder is known,Unknown,,163729,ENSG00000164867,objectId:1249,P29474,P29474,HGNC:7876 +GARD:0018390,Orphanet+OMIM,609402,OMIM:609402,1,PEE2,,Preeclampsia/eclampsia 2,unknown,2p25,The disease phenotype itself was mapped,Unknown,,609402,,,,,GeneID:780908 +GARD:0018391,Orphanet+OMIM,609403,OMIM:609403,1,PEE3,,Preeclampsia/eclampsia 3,unknown,9p13,The disease phenotype itself was mapped,Unknown,,609403,,,,,GeneID:780909 +GARD:0018392,Orphanet+OMIM,609404,OMIM:609404,1,STOX1,[FLJ25162],storkhead box 1,gene with protein product,10q22.1,The molecular basis of the disorder is known,Unknown,,609397,ENSG00000165730,,Q6ZVD7,,HGNC:23508 +GARD:0018393,Orphanet+OMIM,614595,OMIM:614595,1,CORIN,"[ATC2, CRN, Lrp4, PRSC, TMPRSS10]","corin, serine peptidase",gene with protein product,4p12,The molecular basis of the disorder is known,Unknown,,605236,ENSG00000145244,,Q9Y5Q5,Q9Y5Q5,HGNC:19012 +GARD:0018394,Orphanet+OMIM,615342,OMIM:615342,1,SMAD9,"[SMAD8, SMAD8/9]",SMAD family member 9,gene with protein product,13q13.3,The molecular basis of the disorder is known,Unknown,,603295,ENSG00000120693,,O15198,O15198,HGNC:6774 +GARD:0018395,Orphanet+OMIM,619132,OMIM:619132,1,CYLD,"[KIAA0849, USPL2, ubiquitin specific peptidase like 2]",CYLD lysine 63 deubiquitinase,gene with protein product,16q12.1,The molecular basis of the disorder is known,Unknown,,605018,ENSG00000083799,,Q9NQC7,Q9NQC7,HGNC:2584 +GARD:0018396,Orphanet+OMIM,105550,OMIM:105550,1,C9orf72,"[DENND9, DENNL72, MGC23980]",C9orf72-SMCR8 complex subunit,gene with protein product,9p21.2,The molecular basis of the disorder is known,Unknown,,614260,ENSG00000147894,,Q96LT7,,HGNC:28337 +GARD:0018397,Orphanet+OMIM,615911,OMIM:615911,1,CHCHD10,"[MIX17 homolog A, MIX17A, N27C7-4]",coiled-coil-helix-coiled-coil-helix domain containing 10,gene with protein product,22q11.23,The molecular basis of the disorder is known,Unknown,,615903,ENSG00000250479,,Q8WYQ3,Q8WYQ3,HGNC:15559 +GARD:0018398,Orphanet+OMIM,616439,OMIM:616439,1,TBK1,[NAK],TANK binding kinase 1,gene with protein product,12q14.2,The molecular basis of the disorder is known,Unknown,,604834,ENSG00000183735,objectId:2237,Q9UHD2,Q9UHD2,HGNC:11584 +GARD:0018399,Orphanet+OMIM,606766,OMIM:606766,1,SLC26A8,"[TAT1, Testis anion transporter 1]",solute carrier family 26 member 8,gene with protein product,6p21.31,The molecular basis of the disorder is known,Unknown,,608480,ENSG00000112053,objectId:1105,Q96RN1,,HGNC:14468 +GARD:0018400,Orphanet+OMIM,612997,OMIM:612997,1,CATSPER1,[CATSPER],cation channel sperm associated 1,gene with protein product,11q13.1,The molecular basis of the disorder is known,Unknown,,606389,ENSG00000175294,objectId:388,Q8NEC5,Q8NEC5,HGNC:17116 +GARD:0018401,Orphanet+OMIM,614822,OMIM:614822,1,SEPTIN12,[FLJ25410],septin 12,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,611562,ENSG00000140623,,Q8IYM1,,HGNC:26348 +GARD:0018402,Orphanet+OMIM,617576,OMIM:617576,1,DNAH1,"[DNAHC1, HDHC7, HL-11, HL11, XLHSRF-1]",dynein axonemal heavy chain 1,gene with protein product,3p21.1,The molecular basis of the disorder is known,Unknown,,603332,ENSG00000114841,,Q9P2D7,,HGNC:2940 +GARD:0018403,Orphanet+OMIM,617592,OMIM:617592,1,CFAP43,"[FLJ22944, FLJ36006, bA373N18.2]",cilia and flagella associated protein 43,gene with protein product,10q25.1,The molecular basis of the disorder is known,Unknown,,617558,ENSG00000197748,,Q8NDM7,,HGNC:26684 +GARD:0018404,Orphanet+OMIM,617593,OMIM:617593,1,CFAP44,[FLJ11142],cilia and flagella associated protein 44,gene with protein product,3q13.2,The molecular basis of the disorder is known,Unknown,,617559,ENSG00000206530,,Q96MT7,,HGNC:25631 +GARD:0018405,Orphanet+OMIM,617965,OMIM:617965,1,AK7,"[ATP-AMP transphosphorylase 7, CFAP75, FAP75, FLJ32864]",adenylate kinase 7,gene with protein product,14q32.2,The molecular basis of the disorder is known,Unknown,,615364,ENSG00000140057,,Q96M32,Q96M32,HGNC:20091 +GARD:0018406,Orphanet+OMIM,618152,OMIM:618152,1,CFAP251,"[CaM-IP4, MGC33630]",cilia and flagella associated protein 251,gene with protein product,12q24.31,The molecular basis of the disorder is known,Unknown,,618146,ENSG00000158023,,Q8TBY9,,HGNC:28506 +GARD:0018407,Orphanet+OMIM,618153,OMIM:618153,1,FSIP2,[FLJ34780],fibrous sheath interacting protein 2,gene with protein product,2q32.1,The molecular basis of the disorder is known,Unknown,,615796,ENSG00000188738,,Q5CZC0,,HGNC:21675 +GARD:0018408,Orphanet+OMIM,618429,OMIM:618429,1,TTC21A,"[IFT139A, STI2, Stress-inducible protein 2, Thm2]",tetratricopeptide repeat domain 21A,gene with protein product,3p22.2,The molecular basis of the disorder is known,Unknown,,611430,ENSG00000168026,,Q8NDW8,,HGNC:30761 +GARD:0018409,Orphanet+OMIM,618433,OMIM:618433,1,ARMC2,"[DKFZp434P0714, bA787I22.1]",armadillo repeat containing 2,gene with protein product,6q21,The molecular basis of the disorder is known,Unknown,,618424,ENSG00000118690,,Q8NEN0,,HGNC:23045 +GARD:0018410,Orphanet+OMIM,618643,OMIM:618643,1,DNAH17,"[DNEL2, FLJ40457]",dynein axonemal heavy chain 17,gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,610063,ENSG00000187775,,Q9UFH2,,HGNC:2946 +GARD:0018411,Orphanet+OMIM,618664,OMIM:618664,1,CFAP65,"[DKFZp434O0527, MGC35338]",cilia and flagella associated protein 65,gene with protein product,2q35,The molecular basis of the disorder is known,Unknown,,614270,ENSG00000181378,,Q6ZU64,,HGNC:25325 +GARD:0018412,Orphanet+OMIM,618670,OMIM:618670,1,CFAP70,[FLJ25765],cilia and flagella associated protein 70,gene with protein product,10q22.2,The molecular basis of the disorder is known,Unknown,,618661,ENSG00000156042,,Q5T0N1,,HGNC:30726 +GARD:0018413,Orphanet+OMIM,618745,OMIM:618745,1,TTC29,[NYD-SP14],tetratricopeptide repeat domain 29,gene with protein product,4q31.22,The molecular basis of the disorder is known,Unknown,,618735,ENSG00000137473,,Q8NA56,,HGNC:29936 +GARD:0018414,Orphanet+OMIM,618751,OMIM:618751,1,SPEF2,"[CT122, FLJ23577, KPL2, cancer/testis antigen 122]",sperm flagellar 2,gene with protein product,5p13.2,The molecular basis of the disorder is known,Unknown,,610172,ENSG00000152582,,Q9C093,,HGNC:26293 +GARD:0018415,Orphanet+OMIM,600081,OMIM:600081,1,CYP2R1,[Vitamin D 25-hydroxylase],cytochrome P450 family 2 subfamily R member 1,gene with protein product,11p15.2,The molecular basis of the disorder is known,Unknown,,608713,ENSG00000186104,objectId:1333,Q6VVX0,Q6VVX0,HGNC:20580 +GARD:0018416,Orphanet+OMIM,241520,OMIM:241520,1,DMP1,,dentin matrix acidic phosphoprotein 1,gene with protein product,4q22.1,The molecular basis of the disorder is known,Unknown,,600980,ENSG00000152592,,Q13316,Q13316,HGNC:2932 +GARD:0018417,Orphanet+OMIM,613312,OMIM:613312,1,ENPP1,"[PC-1, PCA1]",ectonucleotide pyrophosphatase/phosphodiesterase 1,gene with protein product,6q23.2,The molecular basis of the disorder is known,Unknown,,173335,ENSG00000197594,,P22413,P22413,HGNC:3356 +GARD:0018418,Orphanet+OMIM,193000,OMIM:193000,1,VUR,,Vesicoureteral reflux,unknown,1p13,The disease phenotype itself was mapped,Unknown,,193000,,,,,GeneID:54113 +GARD:0018419,Orphanet+OMIM,610878,OMIM:610878,1,ROBO2,[KIAA1568],roundabout guidance receptor 2,gene with protein product,3p12.3,The molecular basis of the disorder is known,Unknown,,602431,ENSG00000185008,,Q9HCK4,Q9HCK4,HGNC:10250 +GARD:0018420,Orphanet+OMIM,613674,OMIM:613674,1,SOX17,,SRY-box transcription factor 17,gene with protein product,8q11.23,The molecular basis of the disorder is known,Unknown,,610928,ENSG00000164736,,Q9H6I2,Q9H6I2,HGNC:18122 +GARD:0018421,Orphanet+OMIM,614317,OMIM:614317,1,VUR4,,Vesicoureteral reflux 4,unknown,5q14.2,The disease phenotype itself was mapped,Unknown,,614317,,,,,GeneID:100820757 +GARD:0018422,Orphanet+OMIM,614318,OMIM:614318,1,VUR5,,Vesicoureteral reflux 5,unknown,13q33.2,The disease phenotype itself was mapped,Unknown,,614318,,,,,GeneID:100820760 +GARD:0018423,Orphanet+OMIM,614319,OMIM:614319,1,VUR6,,Vesicoureteral reflux 6,unknown,18q12.3,The disease phenotype itself was mapped,Unknown,,614319,,,,,GeneID:100820763 +GARD:0018424,Orphanet+OMIM,615390,OMIM:615390,1,VUR7,,Vesicoureteral reflux 7,unknown,12p11-q13,The disease phenotype itself was mapped,Unknown,,615390,,,,,GeneID:102095631 +GARD:0018425,Orphanet+OMIM,615963,OMIM:615963,1,TNXB,"[HXBL, Hexabrachion-like protein, TN-X, TNX, TNXBS, XB, XBS, tenascin-X]",tenascin XB,gene with protein product,6p21.33-p21.32,The molecular basis of the disorder is known,Unknown,,600985,ENSG00000168477,,P22105,P22105,HGNC:11976 +GARD:0018426,Orphanet+OMIM,607936,OMIM:607936,1,CSTA,[stefin A],cystatin A,gene with protein product,3q21.1,The molecular basis of the disorder is known,Unknown,,184600,ENSG00000121552,,P01040,P01040,HGNC:2481 +GARD:0018427,Orphanet+OMIM,617115,OMIM:617115,1,SERPINB8,"[CAP2, cytoplasmic antiproteinase 2]",serpin family B member 8,gene with protein product,18q22.1,The molecular basis of the disorder is known,Unknown,,601697,ENSG00000166401,,P50452,P50452,HGNC:8952 +GARD:0018428,Orphanet+OMIM,265050,OMIM:265050,1,COLEC11,"[CL-11, CL-K1, Collectin K1, MGC3279]",collectin subfamily member 11,gene with protein product,2p25.3,The molecular basis of the disorder is known,Unknown,,612502,ENSG00000118004,,Q9BWP8,Q9BWP8,HGNC:17213 +GARD:0018429,Orphanet+OMIM,614328,OMIM:614328,1,ADAM17,"[CD156B, TNF-alpha convertase enzyme, a disintegrin and metalloproteinase 17, cSVP, cartilage snake venom-like protease]",ADAM metallopeptidase domain 17,gene with protein product,2p25.1,The molecular basis of the disorder is known,Unknown,,603639,ENSG00000151694,objectId:1662,P78536,P78536,HGNC:195 +GARD:0018430,Orphanet+OMIM,616069,OMIM:616069,1,EGFR,"[ERBB1, ERRP, erb-b2 receptor tyrosine kinase 1, erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)]",epidermal growth factor receptor,gene with protein product,7p11.2,The molecular basis of the disorder is known,Unknown,,131550,ENSG00000146648,objectId:1797,P00533,P00533,HGNC:3236 +GARD:0018431,Orphanet+OMIM,208540,OMIM:208540,1,NPHP3,"[CFAP31, FLJ30691, FLJ36696, KIAA2000, MKS7, Meckel syndrome, NPH3, SLSN3, cilia and flagella associated protein 31, type 7]",nephrocystin 3,gene with protein product,3q22.1,The molecular basis of the disorder is known,Unknown,,608002,ENSG00000113971,,Q7Z494,Q7Z494,HGNC:7907 +GARD:0018432,Orphanet+OMIM,615415,OMIM:615415,1,NEK8,[NPHP9],NIMA related kinase 8,gene with protein product,17q11.2,The molecular basis of the disorder is known,Unknown,,609799,ENSG00000160602,objectId:2123,Q86SG6,,HGNC:13387 +GARD:0018433,Orphanet+OMIM,300942,OMIM:300942,1,CXDUPq26.3,"[DUPXq26.3, XLAG]",Chromosome Xq26.3 duplication syndrome,,Xq26.3,The disorder is a chromosome deletion or duplication syndrome,Unknown,,300942,,,,,OMIM:300942 +GARD:0018434,Orphanet+OMIM,143880,OMIM:143880,1,CYP24A1,"[CP24, P450-CC24, lncBCAS1-4_1]",cytochrome P450 family 24 subfamily A member 1,gene with protein product,20q13.2,The molecular basis of the disorder is known,Unknown,,126065,ENSG00000019186,objectId:1365,Q07973,Q07973,HGNC:2602 +GARD:0018435,Orphanet+OMIM,616963,OMIM:616963,1,SLC34A1,"[NAPI-3, NPTIIa, Na+-phosphate cotransporter type II, SLC11, member 2, sodium/phosphate co-transporter, solute carrier family 17 (sodium phosphate)]",solute carrier family 34 member 1,gene with protein product,5q35.3,The molecular basis of the disorder is known,Unknown,,182309,ENSG00000131183,objectId:1135,Q06495,Q06495,HGNC:11019 +GARD:0018436,Orphanet+OMIM,604185,OMIM:604185,1,MBS3,[HCFP2],"Facial paresis, hereditary congenital, 2",unknown,10q21.3-q22.1,The disease phenotype itself was mapped,Unknown,,604185,,,,,GeneID:22811 +GARD:0018437,Orphanet+OMIM,614744,OMIM:614744,1,HOXB1,,homeobox B1,gene with protein product,17q21.32,The molecular basis of the disorder is known,Unknown,,142968,ENSG00000120094,,P14653,P14653,HGNC:5111 +GARD:0018438,Orphanet+OMIM,614231,OMIM:614231,1,IER3IP1,,immediate early response 3 interacting protein 1,gene with protein product,18q21.1,The molecular basis of the disorder is known,Unknown,,609382,ENSG00000134049,,Q9Y5U9,,HGNC:18550 +GARD:0018439,Orphanet+OMIM,619278,OMIM:619278,1,YIPF5,"[FinGER5, SMAP-5]",Yip1 domain family member 5,gene with protein product,5q31.3,The molecular basis of the disorder is known,Unknown,,611483,ENSG00000145817,,Q969M3,,HGNC:24877 +GARD:0018440,Orphanet+OMIM,615551,OMIM:615551,1,SCN10A,"[Nav1.8, PN3, SNS, hPN3, peripheral nerve sodium channel 3, sensory neuron sodium channel]",sodium voltage-gated channel alpha subunit 10,gene with protein product,3p22.2,The molecular basis of the disorder is known,Unknown,,604427,ENSG00000185313,objectId:585,Q9Y5Y9,Q9Y5Y9,HGNC:10582 +GARD:0018441,Orphanet+OMIM,612199,OMIM:612199,1,CTC1,"[AAF132, FLJ22170, alpha accessory factor 132, conserved telomere capping protein 1, conserved telomere maintenance component 1]",CST telomere replication complex component 1,gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,613129,ENSG00000178971,,Q2NKJ3,Q2NKJ3,HGNC:26169 +GARD:0018442,Orphanet+OMIM,617341,OMIM:617341,1,STN1,"[FLJ22559, bA541N10.2]",STN1 subunit of CST complex,gene with protein product,10q24.33,The molecular basis of the disorder is known,Unknown,,613128,ENSG00000107960,,Q9H668,Q9H668,HGNC:26200 +GARD:0018443,Orphanet+OMIM,614881,OMIM:614881,1,DNAJB2,"[CMT2T, HSPF3]",DnaJ heat shock protein family (Hsp40) member B2,gene with protein product,2q35,The molecular basis of the disorder is known,Unknown,,604139,ENSG00000135924,,P25686,,HGNC:5228 +GARD:0018444,Orphanet+OMIM,619216,OMIM:619216,1,VWA1,"[FLJ22215, VWA-1, WARP]",von Willebrand factor A domain containing 1,gene with protein product,1p36.33,The molecular basis of the disorder is known,Unknown,,611901,ENSG00000179403,,Q6PCB0,Q6PCB0,HGNC:30910 +GARD:0018445,Orphanet+OMIM,300854,OMIM:300854,1,TFE3,"[TFEA, bHLHe33, member A, transcription factor E family]",transcription factor binding to IGHM enhancer 3,gene with protein product,Xp11.23,The molecular basis of the disorder is known,Unknown,,314310,ENSG00000068323,,P19532,,HGNC:11752 +GARD:0018446,Orphanet+OMIM,617591,OMIM:617591,2,PSMB9,"[PSMB6i, RING12, beta1i, proteasome subunit β1i]",proteasome 20S subunit beta 9,gene with protein product,6p21.32,The molecular basis of the disorder is known,Unknown,,177045,ENSG00000240065,objectId:2409,P28065,P28065,HGNC:9546 +GARD:0018446,Orphanet+OMIM,617591,OMIM:617591,2,PSMB4,"[HN3, PROS26, proteasome subunit β7]",proteasome 20S subunit beta 4,gene with protein product,1q21.3,The molecular basis of the disorder is known,Unknown,,602177,ENSG00000159377,,P28070,P28070,HGNC:9541 +GARD:0018447,Orphanet+OMIM,618048,OMIM:618048,1,POMP,"[HSPC014, UMP1, proteassemblin]",proteasome maturation protein,gene with protein product,13q12.3,The molecular basis of the disorder is known,Unknown,,613386,ENSG00000132963,,Q9Y244,,HGNC:20330 +GARD:0018448,Orphanet+OMIM,619175,OMIM:619175,1,PSMB10,"[LMP10, MGC1665, beta2i, proteasome subunit β2i]",proteasome 20S subunit beta 10,gene with protein product,16q22.1,The molecular basis of the disorder is known,Unknown,,176847,ENSG00000205220,,P40306,P40306,HGNC:9538 +GARD:0018449,Orphanet+OMIM,619183,OMIM:619183,1,PSMG2,"[CD40 ligand-activated specific transcript 3, CLAST3, HCCA3, HsT1707, MDS003, MGC15092, PAC2, hepatocellular carcinoma susceptibility protein]",proteasome assembly chaperone 2,gene with protein product,18p11.21,The molecular basis of the disorder is known,Unknown,,609702,ENSG00000128789,,Q969U7,,HGNC:24929 +GARD:0018450,Orphanet+OMIM,616479,OMIM:616479,1,RNASEH1,[RNase H1],ribonuclease H1,gene with protein product,2p25.3,The molecular basis of the disorder is known,Unknown,,604123,ENSG00000171865,,O60930,,HGNC:18466 +GARD:0018451,Orphanet+OMIM,610542,OMIM:610542,1,GFPT1,"[GFA, GFAT, GFAT1]",glutamine--fructose-6-phosphate transaminase 1,gene with protein product,2p13.3,The molecular basis of the disorder is known,Unknown,,138292,ENSG00000198380,,Q06210,Q06210,HGNC:4241 +GARD:0018452,Orphanet+OMIM,614750,OMIM:614750,1,DPAGT1,"[ALG7, CDG-Ij, D11S366, DGPT, GPT, GlcNAc-1-P transferase 1, UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1]",dolichyl-phosphate N-acetylglucosaminephosphotransferase 1,gene with protein product,11q23.3,The molecular basis of the disorder is known,Unknown,,191350,ENSG00000172269,,Q9H3H5,Q9H3H5,HGNC:2995 +GARD:0018453,Orphanet+OMIM,616227,OMIM:616227,1,ALG14,[MGC19780],ALG14 UDP-N-acetylglucosaminyltransferase subunit,gene with protein product,1p21.3,The molecular basis of the disorder is known,Unknown,,612866,ENSG00000172339,,Q96F25,Q96F25,HGNC:28287 +GARD:0018454,Orphanet+OMIM,616228,OMIM:616228,1,ALG2,"[CDG1I, CDGIi, FLJ14511, NET38, hALPG2]","ALG2 alpha-1,3/1,6-mannosyltransferase",gene with protein product,9q22.33,The molecular basis of the disorder is known,Unknown,,607905,ENSG00000119523,,Q9H553,Q9H553,HGNC:23159 +GARD:0018455,Orphanet+OMIM,613151,OMIM:613151,1,POMGNT1,"[FLJ20277, LGMD2O, MGAT1.2, protein O-mannose beta-1;2-N-acetylglucosaminyltransferase]","protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",gene with protein product,1p34.1,The molecular basis of the disorder is known,Unknown,,606822,ENSG00000085998,,Q8WZA1,Q8WZA1,HGNC:19139 +GARD:0018456,Orphanet+OMIM,613152,OMIM:613152,1,FKTN,[LGMD2M],fukutin,gene with protein product,9q31.2,The molecular basis of the disorder is known,Unknown,,607440,ENSG00000106692,,O75072,,HGNC:3622 +GARD:0018457,Orphanet+OMIM,615419,OMIM:615419,1,NALCN,"[CanIon, bA430M15.1]","sodium leak channel, non-selective",gene with protein product,13q32.3-q33.1,The molecular basis of the disorder is known,Unknown,,611549,ENSG00000102452,objectId:750,Q8IZF0,Q8IZF0,HGNC:19082 +GARD:0018458,Orphanet+OMIM,616801,OMIM:616801,1,UNC80,"[FLJ33496, KIAA1843, UNC-80]","unc-80 homolog, NALCN channel complex subunit",gene with protein product,2q34,The molecular basis of the disorder is known,Unknown,,612636,ENSG00000144406,,Q8N2C7,Q8N2C7,HGNC:26582 +GARD:0018459,Orphanet+OMIM,616033,OMIM:616033,1,TRMT10A,"[MGC27034, TRM10]",tRNA methyltransferase 10A,gene with protein product,4q23,The molecular basis of the disorder is known,Unknown,,616013,ENSG00000145331,,Q8TBZ6,Q8TBZ6,HGNC:28403 +GARD:0018460,Orphanet+OMIM,616817,OMIM:616817,1,PPP1R15B,[FLJ14744],protein phosphatase 1 regulatory subunit 15B,gene with protein product,1q32.1,The molecular basis of the disorder is known,Unknown,,613257,ENSG00000158615,,Q5SWA1,,HGNC:14951 +GARD:0018461,Orphanet+OMIM,615528,OMIM:615528,1,DNAJC6,"[KIAA0473, PARK19, auxilin]",DnaJ heat shock protein family (Hsp40) member C6,gene with protein product,1p31.3,The molecular basis of the disorder is known,Unknown,,608375,ENSG00000116675,,O75061,O75061,HGNC:15469 +GARD:0018462,Orphanet+OMIM,615530,OMIM:615530,1,SYNJ1,"[INPP5G, PARK20, inositol polyphosphate-5-phosphatase G, phosphoinositide 5-phosphatase, synaptic inositol 1;4;5-trisphosphate 5-phosphatase 1]",synaptojanin 1,gene with protein product,21q22.11,The molecular basis of the disorder is known,Unknown,,604297,ENSG00000159082,objectId:1461,O43426,O43426,HGNC:11503 +GARD:0018463,Orphanet+OMIM,616489,OMIM:616489,1,IGF2,"[FLJ44734, IGF-II, preptin, somatomedin A]",insulin like growth factor 2,gene with protein product,11p15.5,The molecular basis of the disorder is known,Unknown,,147470,ENSG00000167244,ligandId:4972,P01344,P01344,HGNC:5466 +GARD:0018464,Orphanet+OMIM,618907,OMIM:618907,1,PLAG1,[ZNF912],PLAG1 zinc finger,gene with protein product,8q12.1,The molecular basis of the disorder is known,Unknown,,603026,ENSG00000181690,,Q6DJT9,,HGNC:9045 +GARD:0018465,Orphanet+OMIM,618908,OMIM:618908,1,HMGA2,"[BABL, LIPO]",high mobility group AT-hook 2,gene with protein product,12q14.3,The molecular basis of the disorder is known,Unknown,,600698,ENSG00000149948,,P52926,P52926,HGNC:5009 +GARD:0018466,Orphanet+OMIM,615595,OMIM:615595,1,LYRM4,"[CGI-203, ISD11]",LYR motif containing 4,gene with protein product,6p25.1,The molecular basis of the disorder is known,Unknown,,613311,ENSG00000214113,,Q9HD34,Q9HD34,HGNC:21365 +GARD:0018467,Orphanet+OMIM,616546,OMIM:616546,1,KIAA0586,"[JBTS23, Talpid3]",KIAA0586,gene with protein product,14q23.1,The molecular basis of the disorder is known,Unknown,,610178,ENSG00000100578,,Q9BVV6,,HGNC:19960 +GARD:0018468,Orphanet+OMIM,615592,OMIM:615592,1,IKBKB,"[IKK-beta, IKK2, IKKB, NFKBIKB]",inhibitor of nuclear factor kappa B kinase subunit beta,gene with protein product,8p11.21,The molecular basis of the disorder is known,Unknown,,603258,ENSG00000104365,objectId:2039,O14920,O14920,HGNC:5960 +GARD:0018469,Orphanet+OMIM,618204,OMIM:618204,1,IKBKB,"[IKK-beta, IKK2, IKKB, NFKBIKB]",inhibitor of nuclear factor kappa B kinase subunit beta,gene with protein product,8p11.21,The molecular basis of the disorder is known,Unknown,,603258,ENSG00000104365,objectId:2039,O14920,O14920,HGNC:5960 +GARD:0018470,Orphanet+OMIM,109730,OMIM:109730,1,NOTCH1,,notch receptor 1,gene with protein product,9q34.3,The molecular basis of the disorder is known,Unknown,,190198,ENSG00000148400,objectId:2861,P46531,P46531,HGNC:7881 +GARD:0018471,Orphanet+OMIM,614823,OMIM:614823,1,SMAD6,[HsT17432],SMAD family member 6,gene with protein product,15q22.31,The molecular basis of the disorder is known,Unknown,,602931,ENSG00000137834,,O43541,O43541,HGNC:6772 +GARD:0018472,Orphanet+OMIM,155600,OMIM:155600,3,CMM,"[DNS, MLM]",Cutaneous malignant melanoma/dysplastic nevus,unknown,1p36,The disease phenotype itself was mapped,Unknown,,155600,,,,,GeneID:1243 +GARD:0018472,Orphanet+OMIM,155600,OMIM:155600,3,STK11,"[LKB1, PJS, polarization-related protein LKB1]",serine/threonine kinase 11,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,602216,ENSG00000118046,objectId:2212,Q15831,Q15831,HGNC:11389 +GARD:0018472,Orphanet+OMIM,155600,OMIM:155600,3,BRAF,"[BRAF-1, BRAF1]","B-Raf proto-oncogene, serine/threonine kinase",gene with protein product,7q34,The molecular basis of the disorder is known,Unknown,,164757,ENSG00000157764,objectId:1943,P15056,P15056,HGNC:1097 +GARD:0018473,Orphanet+OMIM,606719,OMIM:606719,1,CDKN2A,"[ARF, CDK4I, CMM2, INK4, INK4a, MTS1, P16-INK4A, p14, p14ARF, p16, p16INK4a, p19, p19Arf]",cyclin dependent kinase inhibitor 2A,gene with protein product,9p21.3,The molecular basis of the disorder is known,Unknown,,600160,ENSG00000147889,,"P42771, Q8N726",,HGNC:1787 +GARD:0018474,Orphanet+OMIM,168601,OMIM:168601,1,SNCA,"[NACP, PD1, alpha-synuclein, non A4 component of amyloid precursor, α-synuclein]",synuclein alpha,gene with protein product,4q22.1,The molecular basis of the disorder is known,Unknown,,163890,ENSG00000145335,,P37840,P37840,HGNC:11138 +GARD:0018475,Orphanet+OMIM,605543,OMIM:605543,1,SNCA,"[NACP, PD1, alpha-synuclein, non A4 component of amyloid precursor, α-synuclein]",synuclein alpha,gene with protein product,4q22.1,The molecular basis of the disorder is known,Unknown,,163890,ENSG00000145335,,P37840,P37840,HGNC:11138 +GARD:0018476,Orphanet+OMIM,607060,OMIM:607060,1,LRRK2,"[DKFZp434H2111, FLJ45829, RIPK7, ROCO2, dardarin]",leucine rich repeat kinase 2,gene with protein product,12q12,The molecular basis of the disorder is known,Unknown,,609007,ENSG00000188906,objectId:2059,Q5S007,Q5S007,HGNC:18618 +GARD:0018477,Orphanet+OMIM,607688,OMIM:607688,1,GIGYF2,"[GYF domain containing 2, GYF2, KIAA0642]",GRB10 interacting GYF protein 2,gene with protein product,2q37.1,The molecular basis of the disorder is known,Unknown,,612003,ENSG00000204120,,Q6Y7W6,,HGNC:11960 +GARD:0018478,Orphanet+OMIM,614203,OMIM:614203,1,VPS35,"[FLJ10752, MEM3, PARK17]",VPS35 retromer complex component,gene with protein product,16q11.2,The molecular basis of the disorder is known,Unknown,,601501,ENSG00000069329,,Q96QK1,Q96QK1,HGNC:13487 +GARD:0018479,Orphanet+OMIM,614251,OMIM:614251,1,EIF4G1,"[PARK18, p220]",eukaryotic translation initiation factor 4 gamma 1,gene with protein product,3q27.1,The molecular basis of the disorder is known,Unknown,,600495,ENSG00000114867,,Q04637,Q04637,HGNC:3296 +GARD:0018480,Orphanet+OMIM,616361,OMIM:616361,1,PARK21,,Parkinson disease 21,unknown,3q22,The disease phenotype itself was mapped,Unknown,,616361,,,,,GeneID:108353827 +GARD:0018481,Orphanet+OMIM,251270,OMIM:251270,1,TUBGCP6,"[DJ402G11.6, GCP6, KIAA1669, gamma-tubulin complex component 6]",tubulin gamma complex associated protein 6,gene with protein product,22q13.33,The molecular basis of the disorder is known,Unknown,,610053,ENSG00000128159,,Q96RT7,Q96RT7,HGNC:18127 +GARD:0018482,Orphanet+OMIM,616335,OMIM:616335,1,TUBGCP4,"[76P, FLJ14797]",tubulin gamma complex associated protein 4,gene with protein product,15q15.3,The molecular basis of the disorder is known,Unknown,,609610,ENSG00000137822,,Q9UGJ1,Q9UGJ1,HGNC:16691 +GARD:0018483,Orphanet+OMIM,616541,OMIM:616541,1,XRCC4,"[DNA repair protein XRCC4, X-ray repair, complementing defective, repair in Chinese hamster]",X-ray repair cross complementing 4,gene with protein product,5q14.2,The molecular basis of the disorder is known,Unknown,,194363,ENSG00000152422,,Q13426,Q13426,HGNC:12831 +GARD:0018484,Orphanet+OMIM,617253,OMIM:617253,1,NSMCE2,"[FLJ32440, MIZ-type containing 7, MMS21, NSE2, ZMIZ7, zinc finger]","NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase",gene with protein product,8q24.13,The molecular basis of the disorder is known,Unknown,,617246,ENSG00000156831,,Q96MF7,Q96MF7,HGNC:26513 +GARD:0018485,Orphanet+OMIM,612591,OMIM:612591,1,POLD1,"[CDC2, CDC2 homolog (S. cerevisiae)]","DNA polymerase delta 1, catalytic subunit",gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,174761,ENSG00000062822,,P28340,P28340,HGNC:9175 +GARD:0018486,Orphanet+OMIM,615083,OMIM:615083,1,POLE,"[DNA polymerase epsilon catalytic subunit A, POLE1]","DNA polymerase epsilon, catalytic subunit",gene with protein product,12q24.33,The molecular basis of the disorder is known,Unknown,,174762,ENSG00000177084,,Q07864,Q07864,HGNC:9177 +GARD:0018487,Orphanet+OMIM,613000,OMIM:613000,1,KRT16,"[NEPPK, focal non-epidermolytic palmoplantar keratoderma]",keratin 16,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,148067,ENSG00000186832,,P08779,P08779,HGNC:6423 +GARD:0018488,Orphanet+OMIM,616400,OMIM:616400,1,TRPV3,[VRL3],transient receptor potential cation channel subfamily V member 3,gene with protein product,17p13.2,The molecular basis of the disorder is known,Unknown,,607066,ENSG00000167723,objectId:509,Q8NET8,Q8NET8,HGNC:18084 +GARD:0018489,Orphanet+OMIM,617035,OMIM:617035,1,TFAP2B,"[AP-2beta, AP2-B]",transcription factor AP-2 beta,gene with protein product,6p12.3,The molecular basis of the disorder is known,Unknown,,601601,ENSG00000008196,,Q92481,Q92481,HGNC:11743 +GARD:0018490,Orphanet+OMIM,617039,OMIM:617039,1,PRDM6,"[KMT8C, PRISM]",PR/SET domain 6,gene with protein product,5q23.2,The molecular basis of the disorder is known,Unknown,,616982,ENSG00000061455,,Q9NQX0,,HGNC:9350 +GARD:0018491,Orphanet+OMIM,616913,OMIM:616913,1,SLFN14,,schlafen family member 14,gene with protein product,17q12,The molecular basis of the disorder is known,Unknown,,614958,ENSG00000236320,,P0C7P3,,HGNC:32689 +GARD:0018492,Orphanet+OMIM,619130,OMIM:619130,1,IKZF5,"[FLJ22973, Pegasus]",IKAROS family zinc finger 5,gene with protein product,10q26.13,The molecular basis of the disorder is known,Unknown,,606238,ENSG00000095574,,Q9H5V7,,HGNC:14283 +GARD:0018493,Orphanet+OMIM,610448,OMIM:610448,1,TREX1,[DRN3],three prime repair exonuclease 1,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,606609,ENSG00000213689,,Q9NSU2,Q9NSU2,HGNC:12269 +GARD:0018494,Orphanet+OMIM,614415,OMIM:614415,1,SAMHD1,"[AGS5, Aicardi-Goutieres syndrome 5, HD domain containing 1, HDDC1, MOP-5, Mg11, SBBI88, monocyte protein 5]",SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1,gene with protein product,20q11.23,The molecular basis of the disorder is known,Unknown,,606754,ENSG00000101347,,Q9Y3Z3,Q9Y3Z3,HGNC:15925 +GARD:0018495,Orphanet+OMIM,616867,OMIM:616867,1,ASCC1,"[ASC1p50, CGI-18, Em:AC022392.3, p50]",activating signal cointegrator 1 complex subunit 1,gene with protein product,10q22.1,The molecular basis of the disorder is known,Unknown,,614215,ENSG00000138303,,Q8N9N2,Q8N9N2,HGNC:24268 +GARD:0018496,Orphanet+OMIM,616780,OMIM:616780,1,TUBB8,"[bA631M21.2, class VIII beta-tubulin]",tubulin beta 8 class VIII,gene with protein product,10p15.3,The molecular basis of the disorder is known,Unknown,,616768,ENSG00000261456,objectId:2753,Q3ZCM7,Q3ZCM7,HGNC:20773 +GARD:0018497,Orphanet+OMIM,617743,OMIM:617743,1,PATL2,[Pat1a],PAT1 homolog 2,gene with protein product,15q21.1,The molecular basis of the disorder is known,Unknown,,614661,ENSG00000229474,,C9JE40,,HGNC:33630 +GARD:0018498,Orphanet+OMIM,619009,OMIM:619009,1,BTG4,"[APRO3, PC3B]",BTG anti-proliferation factor 4,gene with protein product,11q23.1,The molecular basis of the disorder is known,Unknown,,605673,ENSG00000137707,,Q9NY30,,HGNC:13862 +GARD:0018499,Orphanet+OMIM,619011,OMIM:619011,1,TRIP13,"[16E1BP, thyroid receptor interacting protein 13]",thyroid hormone receptor interactor 13,gene with protein product,5p15.33,The molecular basis of the disorder is known,Unknown,,604507,ENSG00000071539,,Q15645,,HGNC:12307 +GARD:0018500,Orphanet+OMIM,619176,OMIM:619176,1,REC114,"[CT147, FLJ27520, FLJ36860, FLJ44083, LOC283677]",REC114 meiotic recombination protein,gene with protein product,15q24.1,The molecular basis of the disorder is known,Unknown,,618421,ENSG00000183324,,Q7Z4M0,,HGNC:25065 +GARD:0018501,Orphanet+OMIM,616973,OMIM:616973,1,GNB1,"[guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1, transducin beta chain 1]",G protein subunit beta 1,gene with protein product,1p36.33,The molecular basis of the disorder is known,Unknown,,139380,ENSG00000078369,,P62873,P62873,HGNC:4396 +GARD:0018502,Orphanet+OMIM,616917,OMIM:616917,1,PIGG,"[FLJ20265, GPI ethanolamine phosphate transferase 2, GPI7, LAS21, LAS21 (GPI7) homolog (S. cerevisiae)]",phosphatidylinositol glycan anchor biosynthesis class G,gene with protein product,4p16.3,The molecular basis of the disorder is known,Unknown,,616918,ENSG00000174227,,Q5H8A4,Q5H8A4,HGNC:25985 +GARD:0018503,Orphanet+OMIM,400042,OMIM:400042,1,DELYq11,"[CYDELq11, SPGFY1]",Chromosome Yq11 interstitial deletion syndrome,,Yq11,The disorder is a chromosome deletion or duplication syndrome,Unknown,,400042,,,,,OMIM:400042 +GARD:0018504,Orphanet+OMIM,415000,OMIM:415000,1,USP9Y,"[AZFA, DFFRY, azoospermia factor A, fat facets-like homolog (Drosophila)]",ubiquitin specific peptidase 9 Y-linked,gene with protein product,Yq11.221,The molecular basis of the disorder is known,Unknown,,400005,ENSG00000114374,,O00507,,HGNC:12633 +GARD:0018505,Orphanet+OMIM,252270,OMIM:252270,1,SAMD9L,"[FLJ39885, KIAA2005]",sterile alpha motif domain containing 9 like,gene with protein product,7q21.2,The molecular basis of the disorder is known,Unknown,,611170,ENSG00000177409,,Q8IVG5,,HGNC:1349 +GARD:0018506,Orphanet+OMIM,619041,OMIM:619041,1,SAMD9,"[FLJ20073, KIAA2004]",sterile alpha motif domain containing 9,gene with protein product,7q21.2,The molecular basis of the disorder is known,Unknown,,610456,ENSG00000205413,,Q5K651,,HGNC:1348 +GARD:0018507,Orphanet+OMIM,618097,OMIM:618097,1,TOP3A,"[GRF-type containing 7, ZGRF7, zinc finger]",DNA topoisomerase III alpha,gene with protein product,17p11.2,The molecular basis of the disorder is known,Unknown,,601243,ENSG00000177302,,Q13472,Q13472,HGNC:11992 +GARD:0018508,Orphanet+OMIM,617660,OMIM:617660,1,HAAO,,"3-hydroxyanthranilate 3,4-dioxygenase",gene with protein product,2p21,The molecular basis of the disorder is known,Unknown,,604521,ENSG00000162882,,P46952,P46952,HGNC:4796 +GARD:0018509,Orphanet+OMIM,617661,OMIM:617661,1,KYNU,[L-kynurenine hydrolase],kynureninase,gene with protein product,2q22.2,The molecular basis of the disorder is known,Unknown,,605197,ENSG00000115919,,Q16719,Q16719,HGNC:6469 +GARD:0018510,Orphanet+OMIM,618845,OMIM:618845,1,NADSYN1,[FLJ10631],NAD synthetase 1,gene with protein product,11q13.4,The molecular basis of the disorder is known,Unknown,,608285,ENSG00000172890,,Q6IA69,Q6IA69,HGNC:29832 +GARD:0018511,Orphanet+OMIM,301029,OMIM:301029,1,BCORL1,[FLJ11362],BCL6 corepressor like 1,gene with protein product,Xq26.1,The molecular basis of the disorder is known,Unknown,,300688,ENSG00000085185,,Q5H9F3,,HGNC:25657 +GARD:0018512,Orphanet+OMIM,606053,OMIM:606053,1,TBR1,,T-box brain transcription factor 1,gene with protein product,2q24.2,The molecular basis of the disorder is known,Unknown,,604616,ENSG00000136535,,Q16650,,HGNC:11590 +GARD:0018513,Orphanet+OMIM,617755,OMIM:617755,1,BPTF,"[FAC1, NURF301]",bromodomain PHD finger transcription factor,gene with protein product,17q24.2,The molecular basis of the disorder is known,Unknown,,601819,ENSG00000171634,objectId:2723,Q12830,,HGNC:3581 +GARD:0018514,Orphanet+OMIM,618009,OMIM:618009,1,MED13,"[KIAA0593, TRAP240]",mediator complex subunit 13,gene with protein product,17q23.2,The molecular basis of the disorder is known,Unknown,,603808,ENSG00000108510,,Q9UHV7,Q9UHV7,HGNC:22474 +GARD:0018515,Orphanet+OMIM,618292,OMIM:618292,1,DOCK3,"[KIAA0299, MOCA, PBP]",dedicator of cytokinesis 3,gene with protein product,3p21.2,The molecular basis of the disorder is known,Unknown,,603123,ENSG00000088538,,Q8IZD9,Q8IZD9,HGNC:2989 +GARD:0018516,Orphanet+OMIM,618342,OMIM:618342,1,PUS7,[FLJ20485],pseudouridine synthase 7,gene with protein product,7q22.3,The molecular basis of the disorder is known,Unknown,,616261,ENSG00000091127,,Q96PZ0,Q96PZ0,HGNC:26033 +GARD:0018517,Orphanet+OMIM,618430,OMIM:618430,1,TCF20,"[AR1, SPBP, stromelysin-1 platelet-derived growth factor-responsive element binding protein]",transcription factor 20,gene with protein product,22q13.2,The molecular basis of the disorder is known,Unknown,,603107,ENSG00000100207,,Q9UGU0,,HGNC:11631 +GARD:0018518,Orphanet+OMIM,618470,OMIM:618470,1,ACTL6B,"[BAF53B, SMARCN2]",actin like 6B,gene with protein product,7q22.1,The molecular basis of the disorder is known,Unknown,,612458,ENSG00000077080,,O94805,O94805,HGNC:160 +GARD:0018519,Orphanet+OMIM,618569,OMIM:618569,1,SVBP,[MGC45441],small vasohibin binding protein,gene with protein product,1p34.2,The molecular basis of the disorder is known,Unknown,,617853,ENSG00000177868,,Q8N300,Q8N300,HGNC:29204 +GARD:0018520,Orphanet+OMIM,618653,OMIM:618653,1,DDX6,"[RCK, Rck/p54]",DEAD-box helicase 6,gene with protein product,11q23.3,The molecular basis of the disorder is known,Unknown,,600326,ENSG00000110367,,P26196,P26196,HGNC:2747 +GARD:0018521,Orphanet+OMIM,618659,OMIM:618659,1,ZMIZ1,"[FLJ13541, KIAA1224, MIZ, RP11-519K18.1, Zimp10, hZIMP10]",zinc finger MIZ-type containing 1,gene with protein product,10q22.3,The molecular basis of the disorder is known,Unknown,,607159,ENSG00000108175,,Q9ULJ6,,HGNC:16493 +GARD:0018522,Orphanet+OMIM,618906,OMIM:618906,1,TANC2,"[DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, ROLSA, rolling pebbles homolog B (Drosophila), rols]","tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2",gene with protein product,17q23.2-q23.3,The molecular basis of the disorder is known,Unknown,,615047,ENSG00000170921,,Q9HCD6,,HGNC:30212 +GARD:0018523,Orphanet+OMIM,618914,OMIM:618914,1,FBXW11,"[BTRC2, BTRCP2, Fbw11, Fbw1b, Hos, KIAA0696]",F-box and WD repeat domain containing 11,gene with protein product,5q35.1,The molecular basis of the disorder is known,Unknown,,605651,ENSG00000072803,,Q9UKB1,Q9UKB1,HGNC:13607 +GARD:0018524,Orphanet+OMIM,618922,OMIM:618922,1,GRM7,"[GLUR7, GPRC1G, MGLUR7, PPP1R87, mGlu7, protein phosphatase 1, regulatory subunit 87]",glutamate metabotropic receptor 7,gene with protein product,3p26.1,The molecular basis of the disorder is known,Unknown,,604101,ENSG00000196277,objectId:295,Q14831,Q14831,HGNC:4599 +GARD:0018525,Orphanet+OMIM,618971,OMIM:618971,1,SOX6,,SRY-box transcription factor 6,gene with protein product,11p15.2,The molecular basis of the disorder is known,Unknown,,607257,ENSG00000110693,,P35712,P35712,HGNC:16421 +GARD:0018526,Orphanet+OMIM,618974,OMIM:618974,1,KAT8,"[FLJ14040, MOF, ZC2HC8, hMOF]",lysine acetyltransferase 8,gene with protein product,16p11.2,The molecular basis of the disorder is known,Unknown,,609912,ENSG00000103510,objectId:2668,Q9H7Z6,Q9H7Z6,HGNC:17933 +GARD:0018527,Orphanet+OMIM,619000,OMIM:619000,1,SETD1B,"[KIAA1076, KMT2G, Set1B]","SET domain containing 1B, histone lysine methyltransferase",gene with protein product,12q24.31,The molecular basis of the disorder is known,Unknown,,611055,ENSG00000139718,objectId:2701,Q9UPS6,Q9UPS6,HGNC:29187 +GARD:0018528,Orphanet+OMIM,619005,OMIM:619005,1,MADD,"[DENN, KIAA0358, RAB3GEP]",MAP kinase activating death domain,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,603584,ENSG00000110514,,Q8WXG6,Q8WXG6,HGNC:6766 +GARD:0018529,Orphanet+OMIM,619031,OMIM:619031,1,ALG14,[MGC19780],ALG14 UDP-N-acetylglucosaminyltransferase subunit,gene with protein product,1p21.3,The molecular basis of the disorder is known,Unknown,,612866,ENSG00000172339,,Q96F25,Q96F25,HGNC:28287 +GARD:0018530,Orphanet+OMIM,619056,OMIM:619056,1,SETD1A,"[KIAA0339, KMT2F, SET1A, Set1]","SET domain containing 1A, histone lysine methyltransferase",gene with protein product,16p11.2,The molecular basis of the disorder is known,Unknown,,611052,ENSG00000099381,objectId:2700,O15047,O15047,HGNC:29010 +GARD:0018531,Orphanet+OMIM,619072,OMIM:619072,1,EXOC7,"[BLOM4, EXO70, Exo70p, KIAA1067, YJL085W]",exocyst complex component 7,gene with protein product,17q25.1,The molecular basis of the disorder is known,Unknown,,608163,ENSG00000182473,,Q9UPT5,Q9UPT5,HGNC:23214 +GARD:0018532,Orphanet+OMIM,619076,OMIM:619076,1,EXOC8,"[EXO84, Exo84p, SEC84]",exocyst complex component 8,gene with protein product,1q42.2,The molecular basis of the disorder is known,Unknown,,615283,ENSG00000116903,,Q8IYI6,Q8IYI6,HGNC:24659 +GARD:0018533,Orphanet+OMIM,619083,OMIM:619083,1,SLC12A2,"[BSC-2, BSC2, CCC1, NKCC1, PPP1R141, basolateral Na-K-Cl symporter, bumetanide-sensitive cotransporter type 2, protein phosphatase 1, regulatory subunit 141]",solute carrier family 12 member 2,gene with protein product,5q23.3,The molecular basis of the disorder is known,Unknown,,600840,ENSG00000064651,objectId:969,P55011,P55011,HGNC:10911 +GARD:0018534,Orphanet+OMIM,619091,OMIM:619091,1,NARS1,"[AsnRS, asparagine tRNA ligase 1, cytoplasmic]",asparaginyl-tRNA synthetase 1,gene with protein product,18q21.31,The molecular basis of the disorder is known,Unknown,,108410,ENSG00000134440,,O43776,O43776,HGNC:7643 +GARD:0018535,Orphanet+OMIM,619092,OMIM:619092,1,NARS1,"[AsnRS, asparagine tRNA ligase 1, cytoplasmic]",asparaginyl-tRNA synthetase 1,gene with protein product,18q21.31,The molecular basis of the disorder is known,Unknown,,108410,ENSG00000134440,,O43776,O43776,HGNC:7643 +GARD:0018536,Orphanet+OMIM,619099,OMIM:619099,1,NEMF,"[FLJ10051, NY-CO-1, New-York Colon 1, RQC2, Ribosome quality control complex subunit NEMF, caliban homolog (Drosophila)]",nuclear export mediator factor,gene with protein product,14q21.3,The molecular basis of the disorder is known,Unknown,,608378,ENSG00000165525,,O60524,,HGNC:10663 +GARD:0018537,Orphanet+OMIM,619125,OMIM:619125,1,YIF1B,[FinGER8],"Yip1 interacting factor homolog B, membrane trafficking protein",gene with protein product,19q13.2,The molecular basis of the disorder is known,Unknown,,619109,ENSG00000167645,,Q5BJH7,,HGNC:30511 +GARD:0018538,Orphanet+OMIM,619149,OMIM:619149,1,AGO2,"[LINC00980, Q10, argonaute 2, hAGO2]",argonaute RISC catalytic component 2,gene with protein product,8q24.3,The molecular basis of the disorder is known,Unknown,,606229,ENSG00000123908,,Q9UKV8,Q9UKV8,HGNC:3263 +GARD:0018539,Orphanet+OMIM,619157,OMIM:619157,1,NBEA,"[BCL8B, FLJ10197, KIAA1544, LYST2]",neurobeachin,gene with protein product,13q13.3,The molecular basis of the disorder is known,Unknown,,604889,ENSG00000172915,,Q8NFP9,Q8NFP9,HGNC:7648 +GARD:0018540,Orphanet+OMIM,619239,OMIM:619239,1,CUL3,,cullin 3,gene with protein product,2q36.2,The molecular basis of the disorder is known,Unknown,,603136,ENSG00000036257,,Q13618,Q13618,HGNC:2553 +GARD:0018541,Orphanet+OMIM,619243,OMIM:619243,1,TNRC6B,[KIAA1093],trinucleotide repeat containing adaptor 6B,gene with protein product,22q13.1,The molecular basis of the disorder is known,Unknown,,610740,ENSG00000100354,,Q9UPQ9,Q9UPQ9,HGNC:29190 +GARD:0018542,Orphanet+OMIM,619244,OMIM:619244,1,TTC5,"[Strap, Stress-responsive activator of p300]",tetratricopeptide repeat domain 5,gene with protein product,14q11.2,The molecular basis of the disorder is known,Unknown,,619014,ENSG00000136319,,Q8N0Z6,Q8N0Z6,HGNC:19274 +GARD:0018543,Orphanet+OMIM,619264,OMIM:619264,1,EMC10,"[HSM1, HSS1, INM02, hematopoietic signal peptide-containing membrane domain-containing 1, hematopoietic signal peptide-containing secreted 1]",ER membrane protein complex subunit 10,gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,614545,ENSG00000161671,,Q5UCC4,,HGNC:27609 +GARD:0018544,Orphanet+OMIM,619268,OMIM:619268,1,SMG8,"[FLJ10587, FLJ23205]",SMG8 nonsense mediated mRNA decay factor,gene with protein product,17q22,The molecular basis of the disorder is known,Unknown,,613175,ENSG00000167447,,Q8ND04,Q8ND04,HGNC:25551 +GARD:0018545,Orphanet+OMIM,619306,OMIM:619306,1,EXOC2,"[FLJ11026, Sec5]",exocyst complex component 2,gene with protein product,6p25.3,The molecular basis of the disorder is known,Unknown,,615329,ENSG00000112685,,Q96KP1,Q96KP1,HGNC:24968 +GARD:0018546,Orphanet+OMIM,619314,OMIM:619314,1,SIAH1,[hSIAH1],siah E3 ubiquitin protein ligase 1,gene with protein product,16q12.1,The molecular basis of the disorder is known,Unknown,,602212,ENSG00000196470,,Q8IUQ4,Q8IUQ4,HGNC:10857 +GARD:0018547,Orphanet+OMIM,619320,OMIM:619320,1,KDM4B,"[KIAA0876, TDRD14B, tudor domain containing 14B]",lysine demethylase 4B,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,609765,ENSG00000127663,objectId:2676,O94953,O94953,HGNC:29136 +GARD:0018548,Orphanet+OMIM,616331,OMIM:616331,1,DVL1,,dishevelled segment polarity protein 1,gene with protein product,1p36.33,The molecular basis of the disorder is known,Unknown,,601365,ENSG00000107404,,O14640,O14640,HGNC:3084 +GARD:0018549,Orphanet+OMIM,616894,OMIM:616894,1,DVL3,[KIAA0208],dishevelled segment polarity protein 3,gene with protein product,3q27.1,The molecular basis of the disorder is known,Unknown,,601368,ENSG00000161202,,Q92997,Q92997,HGNC:3087 +GARD:0018550,Orphanet+OMIM,235400,OMIM:235400,3,CFHR1,"[CFHL, FHR1, H36-1, H36-2]",complement factor H related 1,gene with protein product,1q31.3,The molecular basis of the disorder is known,Unknown,,134371,ENSG00000244414,,Q03591,Q03591,HGNC:4888 +GARD:0018550,Orphanet+OMIM,235400,OMIM:235400,3,CFH,"[ARMD4, ARMS1, FHL1, H factor 2 (complement), HUS, age-related maculopathy susceptibility 1, beta-1H]",complement factor H,gene with protein product,1q31.3,The molecular basis of the disorder is known,Unknown,,134370,ENSG00000000971,,P08603,P08603,HGNC:4883 +GARD:0018550,Orphanet+OMIM,235400,OMIM:235400,3,CFHR3,"[DOWN16, FHR-3, FHR3, HLF4]",complement factor H related 3,gene with protein product,1q31.3,The molecular basis of the disorder is known,Unknown,,605336,ENSG00000116785,,Q02985,Q02985,HGNC:16980 +GARD:0018551,Orphanet+OMIM,609814,OMIM:609814,1,CFH,"[ARMD4, ARMS1, FHL1, H factor 2 (complement), HUS, age-related maculopathy susceptibility 1, beta-1H]",complement factor H,gene with protein product,1q31.3,The molecular basis of the disorder is known,Unknown,,134370,ENSG00000000971,,P08603,P08603,HGNC:4883 +GARD:0018552,Orphanet+OMIM,612922,OMIM:612922,1,CD46,"[MGC26544, TLX, TRA2.10, trophoblast-lymphocyte cross-reactive antigen]",CD46 molecule,gene with protein product,1q32.2,The molecular basis of the disorder is known,Unknown,,120920,ENSG00000117335,,P15529,P15529,HGNC:6953 +GARD:0018553,Orphanet+OMIM,612923,OMIM:612923,1,CFI,"[C3b-INA, C3b-inactivator, FI, KAF, Konglutinogen-activating factor]",complement factor I,gene with protein product,4q25,The molecular basis of the disorder is known,Unknown,,217030,ENSG00000205403,,P05156,P05156,HGNC:5394 +GARD:0018554,Orphanet+OMIM,612924,OMIM:612924,1,CFB,[H2-Bf],complement factor B,gene with protein product,6p21.33,The molecular basis of the disorder is known,Unknown,,138470,ENSG00000243649,objectId:2339,P00751,P00751,HGNC:1037 +GARD:0018555,Orphanet+OMIM,612925,OMIM:612925,1,C3,"[ARMD9, C3a, C3a anaphylatoxin, C3b, CPAMD1, complement component C3a, complement component C3b, prepro-C3]",complement C3,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,120700,ENSG00000125730,ligandId:9414,P01024,P01024,HGNC:1318 +GARD:0018556,Orphanet+OMIM,612926,OMIM:612926,1,THBD,"[BDCA-3, CD141, THRM, fetomodulin]",thrombomodulin,gene with protein product,20p11.21,The molecular basis of the disorder is known,Unknown,,188040,ENSG00000178726,,P07204,P07204,HGNC:11784 +GARD:0018557,Orphanet+OMIM,615008,OMIM:615008,1,DGKE,"[DAGK6, DGK]",diacylglycerol kinase epsilon,gene with protein product,17q22,The molecular basis of the disorder is known,Unknown,,601440,ENSG00000153933,,P52429,P52429,HGNC:2852 +GARD:0018558,Orphanet+OMIM,190440,OMIM:190440,1,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,The molecular basis of the disorder is known,Unknown,,136350,ENSG00000077782,objectId:1808,P11362,P11362,HGNC:3688 +GARD:0018559,Orphanet+OMIM,614485,OMIM:614485,1,FREM1,"[C9orf143, C9orf145, DKFZp686M16108, FLJ25461, TILRR]",FRAS1 related extracellular matrix 1,gene with protein product,9p22.3,The molecular basis of the disorder is known,Unknown,,608944,ENSG00000164946,,Q5H8C1,,HGNC:23399 +GARD:0018560,Orphanet+OMIM,619217,OMIM:619217,1,ENDOVESL,,"ENDOVE syndrome, limb-only type",,2q14,The disorder is a chromosome deletion or duplication syndrome,Unknown,,619217,,,,,OMIM:619217 +GARD:0018561,Orphanet+OMIM,619218,OMIM:619218,1,EN1,,engrailed homeobox 1,gene with protein product,2q14.2,The molecular basis of the disorder is known,Unknown,,131290,ENSG00000163064,,Q05925,,HGNC:3342 +GARD:0018562,Orphanet+OMIM,619301,OMIM:619301,1,PPIL1,"[CYPL1, cyclophilin like 1]",peptidylprolyl isomerase like 1,gene with protein product,6p21.2,The molecular basis of the disorder is known,Unknown,,601301,ENSG00000137168,,Q9Y3C6,Q9Y3C6,HGNC:9260 +GARD:0018563,Orphanet+OMIM,619302,OMIM:619302,1,CDC40,"[EHB3, FLJ10564, PRP17, PRPF17]",cell division cycle 40,gene with protein product,6q21,The molecular basis of the disorder is known,Unknown,,605585,ENSG00000168438,,O60508,O60508,HGNC:17350 +GARD:0018564,Orphanet+OMIM,616286,OMIM:616286,1,CNTNAP1,"[CNTNAP, Caspr, neurexin 4, p190]",contactin associated protein 1,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,602346,ENSG00000108797,,P78357,P78357,HGNC:8011 +GARD:0018565,Orphanet+OMIM,616287,OMIM:616287,1,ADCY6,[AC6],adenylate cyclase 6,gene with protein product,12q13.12,The molecular basis of the disorder is known,Unknown,,600294,ENSG00000174233,objectId:1283,O43306,O43306,HGNC:237 +GARD:0018566,Orphanet+OMIM,617468,OMIM:617468,1,LGI4,,leucine rich repeat LGI family member 4,gene with protein product,19q13.12,The molecular basis of the disorder is known,Unknown,,608303,ENSG00000153902,,Q8N135,Q8N135,HGNC:18712 +GARD:0018567,Orphanet+OMIM,618186,OMIM:618186,1,CNTNAP1,"[CNTNAP, Caspr, neurexin 4, p190]",contactin associated protein 1,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,602346,ENSG00000108797,,P78357,P78357,HGNC:8011 +GARD:0018568,Orphanet+OMIM,612336,OMIM:612336,1,PROS1,,protein S,gene with protein product,3q11.1,The molecular basis of the disorder is known,Unknown,,176880,ENSG00000184500,ligandId:5050,P07225,P07225,HGNC:9456 +GARD:0018569,Orphanet+OMIM,614514,OMIM:614514,1,PROS1,,protein S,gene with protein product,3q11.1,The molecular basis of the disorder is known,Unknown,,176880,ENSG00000184500,ligandId:5050,P07225,P07225,HGNC:9456 +GARD:0018570,Orphanet+OMIM,604377,OMIM:604377,1,SCO2,[SCO1L],synthesis of cytochrome C oxidase 2,gene with protein product,22q13.33,The molecular basis of the disorder is known,Unknown,,604272,ENSG00000284194,,O43819,O43819,HGNC:10604 +GARD:0018571,Orphanet+OMIM,615119,OMIM:615119,1,COX15,[CEMCOX2],cytochrome c oxidase assembly homolog COX15,gene with protein product,10q24.2,The molecular basis of the disorder is known,Unknown,,603646,ENSG00000014919,,Q7KZN9,Q7KZN9,HGNC:2263 +GARD:0018572,Orphanet+OMIM,616500,OMIM:616500,1,COA5,"[FLJ27524, MGC52110, Pet191]",cytochrome c oxidase assembly factor 5,gene with protein product,2q11.2,The molecular basis of the disorder is known,Unknown,,613920,ENSG00000183513,,Q86WW8,,HGNC:33848 +GARD:0018573,Orphanet+OMIM,616501,OMIM:616501,1,COA6,,cytochrome c oxidase assembly factor 6,gene with protein product,1q42.2,The molecular basis of the disorder is known,Unknown,,614772,ENSG00000168275,,Q5JTJ3,Q5JTJ3,HGNC:18025 +GARD:0018574,Orphanet+OMIM,176860,OMIM:176860,1,PROC,"[coagulation factor XIV, prepro-protein C]","protein C, inactivator of coagulation factors Va and VIIIa",gene with protein product,2q14.3,The molecular basis of the disorder is known,Unknown,,612283,ENSG00000115718,objectId:2396,P04070,P04070,HGNC:9451 +GARD:0018575,Orphanet+OMIM,155601,OMIM:155601,1,CDKN2A,"[ARF, CDK4I, CMM2, INK4, INK4a, MTS1, P16-INK4A, p14, p14ARF, p16, p16INK4a, p19, p19Arf]",cyclin dependent kinase inhibitor 2A,gene with protein product,9p21.3,The molecular basis of the disorder is known,Unknown,,600160,ENSG00000147889,,"P42771, Q8N726",,HGNC:1787 +GARD:0018577,Orphanet+OMIM,608035,OMIM:608035,1,CMM4,,"Melanoma, cutaneous malignant, 4",unknown,1p22,The disease phenotype itself was mapped,Unknown,,608035,,,,,GeneID:474388 +GARD:0018578,Orphanet+OMIM,609048,OMIM:609048,1,CDK4,[PSK-J3],cyclin dependent kinase 4,gene with protein product,12q14.1,The molecular basis of the disorder is known,Unknown,,123829,ENSG00000135446,objectId:1976,P11802,P11802,HGNC:1773 +GARD:0018579,Orphanet+OMIM,613099,OMIM:613099,1,MC1R,"[MSH-R, alpha melanocyte stimulating hormone receptor]",melanocortin 1 receptor,gene with protein product,16q24.3,The molecular basis of the disorder is known,Unknown,,155555,ENSG00000258839,objectId:282,Q01726,Q01726,HGNC:6929 +GARD:0018580,Orphanet+OMIM,613972,OMIM:613972,1,XRCC3,[RAD51-like],X-ray repair cross complementing 3,gene with protein product,14q32.33,The molecular basis of the disorder is known,Unknown,,600675,ENSG00000126215,,O43542,O43542,HGNC:12830 +GARD:0018581,Orphanet+OMIM,615134,OMIM:615134,1,TERT,"[EST2, TCS1, TP2, TRT, hEST2]",telomerase reverse transcriptase,gene with protein product,5p15.33,The molecular basis of the disorder is known,Unknown,,187270,ENSG00000164362,,O14746,O14746,HGNC:11730 +GARD:0018582,Orphanet+OMIM,615848,OMIM:615848,1,POT1,"[DKFZp586D211, hPot1]",protection of telomeres 1,gene with protein product,7q31.33,The molecular basis of the disorder is known,Unknown,,606478,ENSG00000128513,,Q9NUX5,Q9NUX5,HGNC:17284 +GARD:0018583,Orphanet+OMIM,143870,OMIM:143870,1,ADCY10,"[2, HCA2, Hypercalciuria, RP1-313L4.2, SAC, SACI, Sacy, absorptive, soluble adenylyl cyclase]",adenylate cyclase 10,gene with protein product,1q24.2,The molecular basis of the disorder is known,Unknown,,605205,ENSG00000143199,objectId:3068,Q96PN6,Q96PN6,HGNC:21285 +GARD:0018584,Orphanet+OMIM,607258,OMIM:607258,1,HCA1,,"Hypercalciuria, absorptive, 1",unknown,4q33-qter,The disease phenotype itself was mapped,Unknown,,607258,,,,,GeneID:266790 +GARD:0018585,Orphanet+OMIM,615237,OMIM:615237,1,CLMP,"[ACAM, ASAM, FLJ22415, adipocyte adhesion molecule, adipocyte-specific adhesion molecule, coxsackie- and adenovirus receptor-like membrane protein]",CXADR like membrane protein,gene with protein product,11q24.1,The molecular basis of the disorder is known,Unknown,,611693,ENSG00000166250,,Q9H6B4,,HGNC:24039 +GARD:0018586,Orphanet+OMIM,164750,OMIM:164750,1,OPHLC,"[C1DUPp31.3, DUP1p31.3]",Omphalocele due to duplication of 1p31.3,,1p31.3,The disorder is a chromosome deletion or duplication syndrome,Unknown,,164750,,,,,OMIM:164750 +GARD:0018588,Orphanet+OMIM,617524,OMIM:617524,1,GJB4,"[CX30.3, connexin 30.3]",gap junction protein beta 4,gene with protein product,1p34.3,The molecular basis of the disorder is known,Unknown,,605425,ENSG00000189433,objectId:719,Q9NTQ9,Q9NTQ9,HGNC:4286 +GARD:0018589,Orphanet+OMIM,617525,OMIM:617525,1,GJA1,"[CX43, ODD, ODOD, SDTY3, connexin 43, oculodentodigital dysplasia (syndactyly type III)]",gap junction protein alpha 1,gene with protein product,6q22.31,The molecular basis of the disorder is known,Unknown,,121014,ENSG00000152661,objectId:728,P17302,P17302,HGNC:4274 +GARD:0018590,Orphanet+OMIM,617526,OMIM:617526,1,KDSR,"[3-dehydrosphinganine reductase, DHSR, SDR35C1, member 1, short chain dehydrogenase/reductase family 35C]",3-ketodihydrosphingosine reductase,gene with protein product,18q21.33,The molecular basis of the disorder is known,Unknown,,136440,ENSG00000119537,objectId:2463,Q06136,Q06136,HGNC:4021 +GARD:0018591,Orphanet+OMIM,129490,OMIM:129490,1,EDAR,"[ED1R, ED5, EDA1R, EDA3]",ectodysplasin A receptor,gene with protein product,2q13,The molecular basis of the disorder is known,Unknown,,604095,ENSG00000135960,objectId:2325,Q9UNE0,Q9UNE0,HGNC:2895 +GARD:0018592,Orphanet+OMIM,614940,OMIM:614940,1,EDARADD,,EDAR associated death domain,gene with protein product,1q42.3-q43,The molecular basis of the disorder is known,Unknown,,606603,ENSG00000186197,,Q8WWZ3,Q8WWZ3,HGNC:14341 +GARD:0018593,Orphanet+OMIM,617337,OMIM:617337,1,KDF1,"[FLJ34633, RP11-344H11.3]",keratinocyte differentiation factor 1,gene with protein product,1p36.11,The molecular basis of the disorder is known,Unknown,,616758,ENSG00000175707,,Q8NAX2,,HGNC:26624 +GARD:0018594,Orphanet+OMIM,181000,OMIM:181000,1,HLA-DRB1,,"major histocompatibility complex, class II, DR beta 1",gene with protein product,6p21.32,The molecular basis of the disorder is known,Unknown,,142857,ENSG00000196126,,P01911,P01911,HGNC:4948 +GARD:0018595,Orphanet+OMIM,612387,OMIM:612387,1,BTNL2,"[BTL-II, BTN7, HSBLMHC1]",butyrophilin like 2,gene with protein product,6p21.32,The molecular basis of the disorder is known,Unknown,,606000,ENSG00000204290,,Q9UIR0,Q9UIR0,HGNC:1142 +GARD:0018596,Orphanet+OMIM,612388,OMIM:612388,1,SS3,,"Sarcoidosis, susceptibility to, 3",unknown,10q22.3,The disease phenotype itself was mapped,Unknown,,612388,,,,,GeneID:100196919 +GARD:0018597,Orphanet+OMIM,173900,OMIM:173900,1,PKD1,"[PBP, Pc-1, TRPP1, member 1, polycystin 1, subfamily P, transient receptor potential cation channel]","polycystin 1, transient receptor potential channel interacting",gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,601313,ENSG00000008710,,P98161,P98161,HGNC:9008 +GARD:0018598,Orphanet+OMIM,600666,OMIM:600666,1,GANAB,"[G2AN, GIIA, GluII, KIAA0088, neutral alpha-glucosidase AB]",glucosidase II alpha subunit,gene with protein product,11q12.3,The molecular basis of the disorder is known,Unknown,,104160,ENSG00000089597,,Q14697,Q14697,HGNC:4138 +GARD:0018599,Orphanet+OMIM,613095,OMIM:613095,1,PKD2,"[PC2, PKD4, Pc-2, TRPP2, member 2, subfamily P, transient receptor potential cation channel]","polycystin 2, transient receptor potential cation channel",gene with protein product,4q22.1,The molecular basis of the disorder is known,Unknown,,173910,ENSG00000118762,objectId:504,Q13563,Q13563,HGNC:9009 +GARD:0018600,Orphanet+OMIM,614839,OMIM:614839,1,TAC3,"[LncZBTB39, LncZBTB39-1:2, NK3, NKB, ZNEUROK1, preprotachykinin-B]",tachykinin precursor 3,gene with protein product,12q13.3,The molecular basis of the disorder is known,Unknown,,162330,ENSG00000166863,ligandId:2090,Q9UHF0,Q9UHF0,HGNC:11521 +GARD:0018601,Orphanet+OMIM,614842,OMIM:614842,1,KISS1,"[kisspeptin, prepro-kisspeptin]",KiSS-1 metastasis suppressor,gene with protein product,1q32.1,The molecular basis of the disorder is known,Unknown,,603286,ENSG00000170498,ligandId:1288,Q15726,Q15726,HGNC:6341 +GARD:0018602,Orphanet+OMIM,125700,OMIM:125700,1,AVP,"[ADH, antidiuretic hormone, copeptin, diabetes insipidus, neurohypophyseal, neurophysin II, prepro-AVP-NP II, prepro-arginine-vasopressin-neurophysin II]",arginine vasopressin,gene with protein product,20p13,The molecular basis of the disorder is known,Unknown,,192340,ENSG00000101200,ligandId:2168,P01185,P01185,HGNC:894 +GARD:0018604,Orphanet+OMIM,300557,OMIM:300557,1,PARK12,,Parkinson disease-12,unknown,Xq21-q25,The disease phenotype itself was mapped,Unknown,,300557,,,,,GeneID:677662 +GARD:0018605,Orphanet+OMIM,605909,OMIM:605909,1,PINK1,[BRPK],PTEN induced kinase 1,gene with protein product,1p36.12,The molecular basis of the disorder is known,Unknown,,608309,ENSG00000158828,objectId:2161,Q9BXM7,Q9BXM7,HGNC:14581 +GARD:0018606,Orphanet+OMIM,606324,OMIM:606324,1,PARK7,"[DJ-1, DJ1, GATD2]",Parkinsonism associated deglycase,gene with protein product,1p36.23,The molecular basis of the disorder is known,Unknown,,602533,ENSG00000116288,,Q99497,Q99497,HGNC:16369 +GARD:0018607,Orphanet+OMIM,606852,OMIM:606852,1,PARK10,[AAOPD],Parkinson disease 10,unknown,1p32,The disease phenotype itself was mapped,Unknown,,606852,,,,,GeneID:170534 +GARD:0018608,Orphanet+OMIM,610297,OMIM:610297,1,HTRA2,"[OMI, PARK13]",HtrA serine peptidase 2,gene with protein product,2p13.1,The molecular basis of the disorder is known,Unknown,,606441,ENSG00000115317,,O43464,,HGNC:14348 +GARD:0018609,Orphanet+OMIM,613643,OMIM:613643,1,UCHL1,"[PGP9.5, UCHL-1, Uch-L1, ubiquitin thiolesterase]",ubiquitin C-terminal hydrolase L1,gene with protein product,4p13,The molecular basis of the disorder is known,Unknown,,191342,ENSG00000154277,objectId:2426,P09936,P09936,HGNC:12513 +GARD:0018610,Orphanet+OMIM,616840,OMIM:616840,1,VPS13C,"[BLTP5C, FLJ10381, FLJ20136, KIAA1421, bridge-like lipid transfer protein family member 5C]",vacuolar protein sorting 13 homolog C,gene with protein product,15q22.2,The molecular basis of the disorder is known,Unknown,,608879,ENSG00000129003,,Q709C8,,HGNC:23594 +GARD:0018611,Orphanet+OMIM,108770,OMIM:108770,1,GJA5,"[CX40, connexin 40]",gap junction protein alpha 5,gene with protein product,1q21.2,The molecular basis of the disorder is known,Unknown,,121013,ENSG00000265107,objectId:726,P36382,P36382,HGNC:4279 +GARD:0018612,Orphanet+OMIM,615745,OMIM:615745,1,NPPA,,natriuretic peptide A,gene with protein product,1p36.22,The molecular basis of the disorder is known,Unknown,,108780,ENSG00000175206,ligandId:4869,P01160,P01160,HGNC:7939 +GARD:0018614,Orphanet+OMIM,603813,OMIM:603813,1,LDLRAP1,"[ARH, ARH2, DKFZp586D0624, FHCB1, FHCB2, MGC34705, autosomal recessive hypercholesterolemia]",low density lipoprotein receptor adaptor protein 1,gene with protein product,1p36.11,The molecular basis of the disorder is known,Unknown,,605747,ENSG00000157978,,Q5SW96,Q5SW96,HGNC:18640 +GARD:0018615,Orphanet,300751,ORPHA:300751,1,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:20301717],150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0018616,Orphanet+OMIM,159900,OMIM:159900,1,SGCE,,sarcoglycan epsilon,gene with protein product,7q21.3,The molecular basis of the disorder is known,Unknown,,604149,ENSG00000127990,,O43556,,HGNC:10808 +GARD:0018617,Orphanet+OMIM,300672,OMIM:300672,1,CDKL5,"[CFAP247, EIEE2]",cyclin dependent kinase like 5,gene with protein product,Xp22.13,The molecular basis of the disorder is known,Unknown,,300203,ENSG00000008086,objectId:1986,O76039,,HGNC:11411 +GARD:0018619,Orphanet+OMIM,606070,OMIM:606070,1,MATR3,"[KIAA0723, MGC9105, VCPDM]",matrin 3,gene with protein product,5q31.2,The molecular basis of the disorder is known,Unknown,,164015,ENSG00000015479,,P43243,,HGNC:6912 +GARD:0018620,Orphanet+OMIM,610489,OMIM:610489,1,PRKAR1A,"[CNC1, Carney complex type 1]",protein kinase cAMP-dependent type I regulatory subunit alpha,gene with protein product,17q24.2,The molecular basis of the disorder is known,Unknown,,188830,ENSG00000108946,objectId:1472,P10644,P10644,HGNC:9388 +GARD:0018621,Orphanet+OMIM,615878,OMIM:615878,1,TJP2,"[Friedreich ataxia region gene X104 (tight junction protein ZO-2), X104, ZO-2, ZO2, zona occludens 2]",tight junction protein 2,gene with protein product,9q21.11,The molecular basis of the disorder is known,Unknown,,607709,ENSG00000119139,,Q9UDY2,Q9UDY2,HGNC:11828 +GARD:0018622,Orphanet+OMIM,616266,OMIM:616266,1,NALCN,"[CanIon, bA430M15.1]","sodium leak channel, non-selective",gene with protein product,13q32.3-q33.1,The molecular basis of the disorder is known,Unknown,,611549,ENSG00000102452,objectId:750,Q8IZF0,Q8IZF0,HGNC:19082 +GARD:0018623,Orphanet+OMIM,156200,OMIM:156200,1,MBD5,"[FLJ11113, KIAA1461]",methyl-CpG binding domain protein 5,gene with protein product,2q23.1,The molecular basis of the disorder is known,Unknown,,611472,ENSG00000204406,,Q9P267,Q9P267,HGNC:20444 +GARD:0018624,Orphanet+OMIM,614381,OMIM:614381,1,POLR3B,"[C128, FLJ10388, RPC2]",RNA polymerase III subunit B,gene with protein product,12q23.3,The molecular basis of the disorder is known,Unknown,,614366,ENSG00000013503,,Q9NW08,Q9NW08,HGNC:30348 +GARD:0018625,Orphanet+OMIM,600165,OMIM:600165,1,NNO1,,Nanophthalmos 1,unknown,11p,The disease phenotype itself was mapped,Unknown,,600165,,,,,GeneID:23691 +GARD:0018626,Orphanet+OMIM,609549,OMIM:609549,1,MFRP,"[C1QTNF5, C1q and TNF related 5, FLJ30570, NNO2, membrane-type frizzled-related protein, rd6]",membrane frizzled-related protein,gene with protein product,11q23.3,The molecular basis of the disorder is known,Unknown,,606227,ENSG00000235718,,Q9BY79,,HGNC:18121 +GARD:0018627,Orphanet+OMIM,611897,OMIM:611897,1,NNO3,,Nanophthalmos 3,unknown,2q11-q14,The disease phenotype itself was mapped,Unknown,,611897,,,,,GeneID:100187717 +GARD:0018628,Orphanet+OMIM,613517,OMIM:613517,1,PRSS56,,serine protease 56,gene with protein product,2q37.1,The molecular basis of the disorder is known,Unknown,,613858,ENSG00000237412,,P0CW18,,HGNC:39433 +GARD:0018629,Orphanet+OMIM,615972,OMIM:615972,1,TMEM98,[DKFZP564K1964],transmembrane protein 98,gene with protein product,17q11.2,The molecular basis of the disorder is known,Unknown,,615949,ENSG00000006042,,Q9Y2Y6,,HGNC:24529 +GARD:0018630,Orphanet+OMIM,227300,OMIM:227300,1,LMAN1,"[ERGIC-53, ERGIC53, FMFD1, MCFD1, MR60, endoplasmic reticulum-golgi intermediate compartment protein 53, gp58]","lectin, mannose binding 1",gene with protein product,18q21.32,The molecular basis of the disorder is known,Unknown,,601567,ENSG00000074695,,P49257,P49257,HGNC:6631 +GARD:0018632,Orphanet+OMIM,613625,OMIM:613625,1,MCFD2,"[F5F8D, LMAN1IP, SDNSF]","multiple coagulation factor deficiency 2, ER cargo receptor complex subunit",gene with protein product,2p21,The molecular basis of the disorder is known,Unknown,,607788,ENSG00000180398,,Q8NI22,Q8NI22,HGNC:18451 +GARD:0018633,Orphanet+OMIM,609620,OMIM:609620,1,KCNH2,"[HERG, Kv11.1, erg1, human ether-a-go-go-related gene, long QT syndrome type 2]",potassium voltage-gated channel subfamily H member 2,gene with protein product,7q36.1,The molecular basis of the disorder is known,Unknown,,152427,ENSG00000055118,objectId:572,Q12809,Q12809,HGNC:6251 +GARD:0018634,Orphanet+OMIM,609621,OMIM:609621,1,KCNQ1,"[JLNS1, Jervell and Lange-Nielsen syndrome 1, KCNA8, KVLQT1, Kv7.1, LQT1]",potassium voltage-gated channel subfamily Q member 1,gene with protein product,11p15.5-p15.4,The molecular basis of the disorder is known,Unknown,,607542,ENSG00000053918,objectId:560,P51787,P51787,HGNC:6294 +GARD:0018635,Orphanet+OMIM,609622,OMIM:609622,1,KCNJ2,"[IRK1, Kir2.1, LQT7]",potassium inwardly rectifying channel subfamily J member 2,gene with protein product,17q24.3,The molecular basis of the disorder is known,Unknown,,600681,ENSG00000123700,objectId:430,P63252,P63252,HGNC:6263 +GARD:0018636,Orphanet+OMIM,264700,OMIM:264700,1,CYP27B1,"[1alpha(OH)ase, 25-Hydroxyvitamin D3 1alpha-hydroxylase, CYP1, Calcidiol 1-monooxygenase, P450c1, VDDR I]",cytochrome P450 family 27 subfamily B member 1,gene with protein product,12q14.1,The molecular basis of the disorder is known,Unknown,,609506,ENSG00000111012,objectId:1370,O15528,O15528,HGNC:2606 +GARD:0018637,Orphanet+OMIM,105250,OMIM:105250,1,OSMR,"[OSMRB, OSMRbeta, Oncostatin-M-specific receptor subunit beta]",oncostatin M receptor,gene with protein product,5p13.1,The molecular basis of the disorder is known,Unknown,,601743,ENSG00000145623,objectId:1714,Q99650,Q99650,HGNC:8507 +GARD:0018638,Orphanet+OMIM,613955,OMIM:613955,1,IL31RA,"[CRL, CRL3, GLM-R, Glmr, IL-31RA]",interleukin 31 receptor A,gene with protein product,5q11.2,The molecular basis of the disorder is known,Unknown,,609510,ENSG00000164509,objectId:1710,Q8NI17,Q8NI17,HGNC:18969 +GARD:0018639,Orphanet,316,ORPHA:316,4,LORICRIN,,loricrin cornified envelope precursor protein,gene with protein product,1q21.3,Candidate gene tested in,Not yet assessed,,152445,ENSG00000203782,,P23490,P23490,HGNC:6663 +GARD:0018639,Orphanet,316,ORPHA:316,4,KDSR,"[3-dehydrosphinganine reductase, DHSR, SDR35C1, short chain dehydrogenase/reductase family 35C, member 1]",3-ketodihydrosphingosine reductase,gene with protein product,18q21.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28575652],136440,ENSG00000119537,2463,Q06136,R-HSA-428134,HGNC:4021 +GARD:0018639,Orphanet,316,ORPHA:316,4,KRT83,"[Hb-3, hard keratin type II]",keratin 83,gene with protein product,12q13.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27965375],602765,ENSG00000170523,,P78385,P78385,HGNC:6460 +GARD:0018639,Orphanet,316,ORPHA:316,4,TRPM4,[FLJ20041],transient receptor potential cation channel subfamily M member 4,gene with protein product,19q13.33,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:30528822],606936,ENSG00000130529,496,Q8TD43,Q8TD43,HGNC:17993 +GARD:0018640,Orphanet,777,ORPHA:777,32,ZNF41,"[MGC8941, MRX89]",zinc finger protein 41,gene with protein product,Xp11.3,Candidate gene tested in,Not yet assessed,[PMID:23871722],314995,ENSG00000147124,,P51814,P51814,HGNC:13107 +GARD:0018640,Orphanet,777,ORPHA:777,32,DMD,"[BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, muscular dystrophy, Duchenne and Becker types]",dystrophin,gene with protein product,Xp21.2-p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23900271],300377,ENSG00000198947,,P11532,P11532,HGNC:2928 +GARD:0018640,Orphanet,777,ORPHA:777,32,SLC9A7,[NHE7],solute carrier family 9 member A7,gene with protein product,Xp11.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30335141],300368,ENSG00000065923,954,Q96T83,Q96T83,HGNC:17123 +GARD:0018640,Orphanet,777,ORPHA:777,32,TSPAN7,"[A15, CD231, DXS1692E, TALLA-1]",tetraspanin 7,gene with protein product,Xp11.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:10655063, PMID:12070254]",300096,ENSG00000156298,,P41732,P41732,HGNC:11854 +GARD:0018640,Orphanet,777,ORPHA:777,32,MID2,"[FXY2, MRX101, RNF60, TRIM1]",midline 2,gene with protein product,Xq22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24115387],300204,ENSG00000080561,,Q9UJV3,,HGNC:7096 +GARD:0018640,Orphanet,777,ORPHA:777,32,MED12,"[ARC240, CAGH45, HOPA, KIAA0192, Kohtalo homolog, Kto, OKS, OPA1, TRAP230]",mediator complex subunit 12,gene with protein product,Xq13.1,Candidate gene tested in,Not yet assessed,,300188,ENSG00000184634,,Q93074,Q93074,HGNC:11957 +GARD:0018640,Orphanet,777,ORPHA:777,32,USP9X,"[DFFRX, FAF, MRX99]",ubiquitin specific peptidase 9 X-linked,gene with protein product,Xp11.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24607389],300072,ENSG00000124486,,Q93008,Q93008,HGNC:12632 +GARD:0018640,Orphanet,777,ORPHA:777,32,ZNF711,"[CMPX1, MRX97, ZNF4, ZNF5, Zfp711, dJ75N13.1]",zinc finger protein 711,gene with protein product,Xq21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19377476],314990,ENSG00000147180,,Q9Y462,Q9Y462,HGNC:13128 +GARD:0018640,Orphanet,777,ORPHA:777,32,SYP,[MRX96],synaptophysin,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:19377476],313475,ENSG00000102003,,P08247,P08247,HGNC:11506 +GARD:0018640,Orphanet,777,ORPHA:777,32,PAK3,"[bPAK, hPAK3]",p21 (RAC1) activated kinase 3,gene with protein product,Xq23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18523455],300142,ENSG00000077264,2135,O75914,O75914,HGNC:8592 +GARD:0018640,Orphanet,777,ORPHA:777,32,ACSL4,"[ACS4, LACS4, lignoceroyl-CoA synthase]",acyl-CoA synthetase long chain family member 4,gene with protein product,Xq23,Disease-causing germline mutation(s) in,Assessed,[PMID:11889465],300157,ENSG00000068366,,O60488,O60488,HGNC:3571 +GARD:0018640,Orphanet,777,ORPHA:777,32,GDI1,"[FLJ41411, OPHN2, RABGDIA, XAP-4, mental retardation, X-linked 41, mental retardation, X-linked 48, rab GDP-dissociation inhibitor, alpha]",GDP dissociation inhibitor 1,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:22002931],300104,ENSG00000203879,,P31150,P31150,HGNC:4226 +GARD:0018640,Orphanet,777,ORPHA:777,32,ZNF81,[HFZ20],zinc finger protein 81,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:15121780],314998,ENSG00000197779,,P51508,,HGNC:13156 +GARD:0018640,Orphanet,777,ORPHA:777,32,IQSEC2,"[BRAG1, IQ-ArfGEF, KIAA0522, brefeldin A resistant Arf-guanine nucleotide exchange factor 1]",IQ motif and Sec7 domain ArfGEF 2,gene with protein product,Xp11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:20473311],300522,ENSG00000124313,,Q5JU85,,HGNC:29059 +GARD:0018640,Orphanet,777,ORPHA:777,32,CNKSR2,"[CNK2, KIAA0902, KSR2]",connector enhancer of kinase suppressor of Ras 2,gene with protein product,Xp22.12,Disease-causing germline mutation(s) in,Assessed,[PMID:25644381],300724,ENSG00000149970,,Q8WXI2,Q8WXI2,HGNC:19701 +GARD:0018640,Orphanet,777,ORPHA:777,32,CLCN4,"[CLC4, ClC-4]",chloride voltage-gated channel 4,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25644381],302910,ENSG00000073464,703,P51793,P51793,HGNC:2022 +GARD:0018640,Orphanet,777,ORPHA:777,32,FTSJ1,"[CDLIV, JM23, SPB1, TRM7, TRMT7, tRNA methyltransferase 7 homolog (S. cerevisiae)]",FtsJ RNA 2'-O-methyltransferase 1,gene with protein product,Xp11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18081026],300499,ENSG00000068438,,Q9UET6,Q9UET6,HGNC:13254 +GARD:0018640,Orphanet,777,ORPHA:777,32,PTCHD1,[FLJ30296],patched domain containing 1,gene with protein product,Xp22.11,Candidate gene tested in,Not yet assessed,"[PMID:20844286, PMID:21091464]",300828,ENSG00000165186,,Q96NR3,,HGNC:26392 +GARD:0018640,Orphanet,777,ORPHA:777,32,STEEP1,[FLJ22965],STING1 ER exit protein 1,gene with protein product,Xq24,Disease-causing germline mutation(s) in,Assessed,[PMID:29374277],301012,ENSG00000018610,,Q9H5V9,Q9H5V9,HGNC:26239 +GARD:0018640,Orphanet,777,ORPHA:777,32,UPF3B,"[HUPF3B, MRX82, RENT3B, UPF3X]",UPF3B regulator of nonsense mediated mRNA decay,gene with protein product,Xq24,Disease-causing germline mutation(s) in,Assessed,"[PMID:17704778, PMID:19238151]",300298,ENSG00000125351,,Q9BZI7,Q9BZI7,HGNC:20439 +GARD:0018640,Orphanet,777,ORPHA:777,32,ALG13,"[CDG1S, FLJ23018, MDS031, N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase, TDRD13, Tudor domain containing 13, YGL047W, tudor domain containing 13]",ALG13 UDP-N-acetylglucosaminyltransferase subunit,gene with protein product,Xq23,Disease-causing germline mutation(s) in,Assessed,[PMID:24501762],300776,ENSG00000101901,,Q9NP73,Q9NP73,HGNC:30881 +GARD:0018640,Orphanet,777,ORPHA:777,32,RAB39B,,"RAB39B, member RAS oncogene family",gene with protein product,Xq28,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20159109],300774,ENSG00000155961,,Q96DA2,Q96DA2,HGNC:16499 +GARD:0018640,Orphanet,777,ORPHA:777,32,ARHGEF6,"[Cool-2, Cool2, KIAA0006, PAK-interacting exchange factor, alpha, Rac/Cdc42 guanine exchange factor (GEF) 6, aPix, alpha-PIX, alphaPIX, rho guanine nucleotide exchange factor 6]",Rac/Cdc42 guanine nucleotide exchange factor 6,gene with protein product,Xq26.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11017088],300267,ENSG00000129675,,Q15052,Q15052,HGNC:685 +GARD:0018640,Orphanet,777,ORPHA:777,32,ARX,"[CT121, EIEE1, ISSX, cancer/testis antigen 121]",aristaless related homeobox,gene with protein product,Xp21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:15850492],300382,ENSG00000004848,,Q96QS3,,HGNC:18060 +GARD:0018640,Orphanet,777,ORPHA:777,32,MECP2,,methyl-CpG binding protein 2,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:11309367],300005,ENSG00000169057,,P51608,P51608,HGNC:6990 +GARD:0018640,Orphanet,777,ORPHA:777,32,AGTR2,"[AT2, MRX88]",angiotensin II receptor type 2,gene with protein product,Xq23,Disease-causing germline mutation(s) in,Assessed,[PMID:14598163],300034,ENSG00000180772,35,P50052,P50052,HGNC:338 +GARD:0018640,Orphanet,777,ORPHA:777,32,DLG3,"[KIAA1232, MRX90, NE-Dlg, NEDLG, PPP1R82, SAP-102, SAP102, neuroendocrine-dlg, protein phosphatase 1, regulatory subunit 82, synapse associated protein 102]",discs large MAGUK scaffold protein 3,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:15185169],300189,ENSG00000082458,,Q92796,Q92796,HGNC:2902 +GARD:0018640,Orphanet,777,ORPHA:777,32,HCFC1,"[CFF, HCF-1, HCF1, MGC70925, PPP1R89, VCAF, VP16-accessory protein, protein phosphatase 1, regulatory subunit 89]",host cell factor C1,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:23000143],300019,ENSG00000172534,,P51610,P51610,HGNC:4839 +GARD:0018640,Orphanet,777,ORPHA:777,32,IL1RAPL1,"[IL1R8, OPHN4, TIGIRR-2]",interleukin 1 receptor accessory protein like 1,gene with protein product,Xp21.3-p21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:16470793, PMID:19012350]",300206,ENSG00000169306,,Q9NZN1,Q9NZN1,HGNC:5996 +GARD:0018640,Orphanet,777,ORPHA:777,32,USP27X,[USP27],ubiquitin specific peptidase 27 X-linked,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:25644381],300975,ENSG00000273820,,A6NNY8,,HGNC:13486 +GARD:0018640,Orphanet,777,ORPHA:777,32,FRMPD4,[KIAA0316],FERM and PDZ domain containing 4,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25644381],300838,ENSG00000169933,,Q14CM0,,HGNC:29007 +GARD:0018640,Orphanet,777,ORPHA:777,32,RPS6KA3,"[HU-3, RSK, RSK2]",ribosomal protein S6 kinase A3,gene with protein product,Xp22.12,Disease-causing germline mutation(s) in,Assessed,[PMID:17100996],300075,ENSG00000177189,1528,P51812,P51812,HGNC:10432 +GARD:0018641,Orphanet,36387,ORPHA:36387,9,STX1B,,syntaxin 1B,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25362483],601485,ENSG00000099365,,P61266,P61266,HGNC:18539 +GARD:0018641,Orphanet,36387,ORPHA:36387,9,ADGRV1,"[DKFZp761P0710, FEB4, KIAA0686, VLGR1]",adhesion G protein-coupled receptor V1,gene with protein product,5q14.3,Candidate gene tested in,Not yet assessed,[PMID:12402266],602851,ENSG00000164199,189,Q8WXG9,,HGNC:17416 +GARD:0018641,Orphanet,36387,ORPHA:36387,9,SCN1A,"[GEFSP2, HBSCI, NAC1, Nav1.1, SMEI]",sodium voltage-gated channel alpha subunit 1,gene with protein product,2q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301494],182389,ENSG00000144285,578,P35498,P35498,HGNC:10585 +GARD:0018641,Orphanet,36387,ORPHA:36387,9,SCN2A,"[HBSCI, HBSCII, Nav1.2]",sodium voltage-gated channel alpha subunit 2,gene with protein product,2q24.3,Candidate gene tested in,Not yet assessed,,182390,ENSG00000136531,579,Q99250,Q99250,HGNC:10588 +GARD:0018641,Orphanet,36387,ORPHA:36387,9,SCN1B,,sodium voltage-gated channel beta subunit 1,gene with protein product,19q13.11,Disease-causing germline mutation(s) in,Assessed,,600235,ENSG00000105711,,Q07699,Q07699,HGNC:10586 +GARD:0018641,Orphanet,36387,ORPHA:36387,9,GABRG2,"[GABA(A) receptor, gamma 2]",gamma-aminobutyric acid type A receptor subunit gamma2,gene with protein product,5q34,Disease-causing germline mutation(s) in,Assessed,,137164,ENSG00000113327,414,P18507,P18507,HGNC:4087 +GARD:0018641,Orphanet,36387,ORPHA:36387,9,SCN9A,"[ETHA, NE-NA, NENA, Nav1.7, PN1]",sodium voltage-gated channel alpha subunit 9,gene with protein product,2q24.3,Candidate gene tested in,Not yet assessed,,603415,ENSG00000169432,584,Q15858,Q15858,HGNC:10597 +GARD:0018641,Orphanet,36387,ORPHA:36387,9,GABRD,"[GABA(A) receptor, delta]",gamma-aminobutyric acid type A receptor subunit delta,gene with protein product,1p36.33,Candidate gene tested in,Not yet assessed,,137163,ENSG00000187730,416,O14764,,HGNC:4084 +GARD:0018641,Orphanet,36387,ORPHA:36387,9,HCN1,"[BCNG-1, HAC-2]",hyperpolarization activated cyclic nucleotide gated potassium channel 1,gene with protein product,5p12,Disease-causing germline mutation(s) in,Assessed,[PMID:30351409],602780,ENSG00000164588,400,O60741,O60741,HGNC:4845 +GARD:0018642,Orphanet,46532,ORPHA:46532,4,HBG1,[HBG-T2],hemoglobin subunit gamma 1,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:24144231, PMID:6210198]",142200,ENSG00000213934,,P69891,P69891,HGNC:4831 +GARD:0018642,Orphanet,46532,ORPHA:46532,4,KLF1,"[EKLF, erythroid Kruppel-like factor]",Kruppel like factor 1,gene with protein product,19p13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20676099],600599,ENSG00000105610,,Q13351,,HGNC:6345 +GARD:0018642,Orphanet,46532,ORPHA:46532,4,HBG2,[HBG-T1],hemoglobin subunit gamma 2,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:19050890, PMID:24144231, PMID:25435729]",142250,ENSG00000196565,,P69892,P69892,HGNC:4832 +GARD:0018642,Orphanet,46532,ORPHA:46532,4,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:19050890],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,FRRS1L,[CG-6],ferric chelate reductase 1 like,gene with protein product,9q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28675162],604574,ENSG00000260230,,Q9P0K9,,HGNC:1362 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,NDST1,"[N-Deacetylase-N-sulfotransferase 1, NST1, [Heparan sulfate]-glucosamine N-sulfotransferase 1, heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1]",N-deacetylase and N-sulfotransferase 1,gene with protein product,5q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25125150],600853,ENSG00000070614,,P52848,P52848,HGNC:7680 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,SARS1,"[SERS, serine tRNA ligase 1, cytoplasmic]",seryl-tRNA synthetase 1,gene with protein product,1p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28236339],607529,ENSG00000031698,,P49591,P49591,HGNC:10537 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,METTL23,[LOC124512],methyltransferase like 23,gene with protein product,17q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24626631],615262,ENSG00000181038,,Q86XA0,,HGNC:26988 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,AIMP1,"[ARS-interacting multifunctional protein 1, EMAP II, EMAP-2, EMAPII, p43]",aminoacyl tRNA synthetase complex interacting multifunctional protein 1,gene with protein product,4q24,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26173967],603605,ENSG00000164022,,Q12904,Q12904,HGNC:10648 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,AP1G1,,adaptor related protein complex 1 subunit gamma 1,gene with protein product,16q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:34102099],603533,ENSG00000166747,,O43747,,HGNC:555 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,SLC12A2,"[BSC, BSC2, NKCC1, PPP1R141, basolateral Na-K-Cl symporter, bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1, protein phosphatase 1, regulatory subunit 141]",solute carrier family 12 member 2,gene with protein product,5q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:32658972],600840,ENSG00000064651,969,P55011,P55011,HGNC:10911 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,CRBN,[MRT2],cereblon,gene with protein product,3p26.2,Disease-causing germline mutation(s) in,Assessed,[PMID:15557513],609262,ENSG00000113851,3086,Q96SW2,,HGNC:30185 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,B3GALNT2,[MGC39558],"beta-1,3-N-acetylgalactosaminyltransferase 2",gene with protein product,1q42.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29273094],610194,ENSG00000162885,,Q8NCR0,Q8NCR0,HGNC:28596 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,TNIK,[KIAA0551],TRAF2 and NCK interacting kinase,gene with protein product,3q26.2-q26.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27106596],610005,ENSG00000154310,2244,Q9UKE5,Q9UKE5,HGNC:30765 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,IQSEC1,"[ARF-GEP100, BRAG2, GEP100, KIAA0763, brefeldin A-resistant ARF-GEF2]",IQ motif and Sec7 domain ArfGEF 1,gene with protein product,3p25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31607425],610166,ENSG00000144711,,Q6DN90,,HGNC:29112 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,NCDN,,neurochondrin,gene with protein product,1p34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:33711248],608458,ENSG00000020129,,Q9UBB6,,HGNC:17597 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,TRAPPC9,"[IKBKBBP, KIAA1882, MRT13, NIBP, T1, TRAPP 120 kDa subunit, TRS120, tularik gene 1]",trafficking protein particle complex subunit 9,gene with protein product,8q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20004763, PMID:20004765]",611966,ENSG00000167632,,Q96Q05,Q96Q05,HGNC:30832 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,NEMF,,nuclear export mediator factor,gene with protein product,14q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:32934225],608378,ENSG00000165525,,O60524,,HGNC:10663 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,TTC5,[Strap],tetratricopeptide repeat domain 5,gene with protein product,14q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:32439809],619014,ENSG00000136319,,Q8N0Z6,,HGNC:19274 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,KDM5B,"[CT31, PLU-1, PPP1R98, RBBP2H1A, cancer/testis antigen 31, protein phosphatase 1, regulatory subunit 98]",lysine demethylase 5B,gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29276005],605393,ENSG00000117139,2681,Q9UGL1,Q9UGL1,HGNC:18039 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,PRSS12,"['mental retardation, autosomal recessive 1', BSSP-3, MRT1, brain-specific serine protease 3, motopsin, neurotrypsin]",serine protease 12,gene with protein product,4q26,Disease-causing germline mutation(s) in,Assessed,[PMID:12459588],606709,ENSG00000164099,,P56730,,HGNC:9477 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,HNMT,,histamine N-methyltransferase,gene with protein product,2q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26206890],605238,ENSG00000150540,,P50135,P50135,HGNC:5028 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,UBE4A,,ubiquitination factor E4A,gene with protein product,11q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:33420346],603753,ENSG00000110344,,Q14139,,HGNC:12499 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,LINS1,[WINS1],lines homolog 1,gene with protein product,15q26.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23773660],610350,ENSG00000140471,,Q8NG48,,HGNC:30922 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,NAA20,,"N-alpha-acetyltransferase 20, NatB catalytic subunit",gene with protein product,20p11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:34230638],610833,ENSG00000173418,,P61599,,HGNC:15908 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,ZC3H14,"[FLJ11806, NY-REN-37, UKp68]",zinc finger CCCH-type containing 14,gene with protein product,14q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21734151],613279,ENSG00000100722,,Q6PJT7,,HGNC:20509 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,FMN2,,formin 2,gene with protein product,1q43,Disease-causing germline mutation(s) in,Assessed,[PMID:25480035],606373,ENSG00000155816,,Q9NZ56,,HGNC:14074 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,UFSP2,[FLJ11200],UFM1 specific peptidase 2,gene with protein product,4q35.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:33473208],611482,ENSG00000109775,,Q9NUQ7,,HGNC:25640 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,MBOAT7,"[BB1, LPIAT, LPLAT, hMBOA-7, lysophosphatidylinositol acyltransferase, lysophospholipid acyltransferase 7]",membrane bound O-acyltransferase domain containing 7,gene with protein product,19q13.42,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27616480],606048,ENSG00000125505,,Q96N66,Q96N66,HGNC:15505 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,MED25,"[ACID1, ARC92, DKFZp434K0512, TCBAP0758]",mediator complex subunit 25,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:25527630],610197,ENSG00000104973,,Q71SY5,Q71SY5,HGNC:28845 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,TUSC3,"[MGC13453, MRT7, MagT2, Magnesium uptake/transporter TUSC3, N33, OST3A, SLC58A2, oligosaccharyltransferase 3 homolog A (S. cerevisiae)]",tumor suppressor candidate 3,gene with protein product,8p22,Disease-causing germline mutation(s) in,Assessed,[PMID:21739581],601385,ENSG00000104723,3040,Q13454,Q13454,HGNC:30242 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,CC2D1A,"[Aki-1, FLJ20241, Freud-1, Lgd2, MRT3, TAPE, TBK1-associated protein in endolysosomes, mental retardation, nonsyndromic, autosomal recessive, 3]",coiled-coil and C2 domain containing 1A,gene with protein product,19p13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:16033914],610055,ENSG00000132024,,Q6P1N0,,HGNC:30237 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,ALKBH8,"[MGC10235, TRM9, TRMT9A, tRNA methyltransferase 9 related]","alkB homolog 8, tRNA methyltransferase",gene with protein product,11q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31079898],613306,ENSG00000137760,,Q96BT7,,HGNC:25189 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,PGAP1,"[Bst1, FLJ12377, GPI inositol-deacylase, SPG67]",post-GPI attachment to proteins inositol deacylase 1,gene with protein product,2q33.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24784135],611655,ENSG00000197121,,Q75T13,Q75T13,HGNC:25712 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,TECR,"[MRT14, TER, very-long-chain enoyl-CoA reductase]","trans-2,3-enoyl-CoA reductase",gene with protein product,19p13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:21212097],610057,ENSG00000099797,,Q9NZ01,Q9NZ01,HGNC:4551 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,GRIK2,"[GluK2, MRT6]",glutamate ionotropic receptor kainate type subunit 2,gene with protein product,6q16.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17847003],138244,ENSG00000164418,451,Q13002,Q13002,HGNC:4580 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,RSRC1,"[BM-011, MGC12197, SFRS21, SRrp53, splicing factor, arginine/serine-rich 21]",arginine and serine rich coiled-coil 1,gene with protein product,3q25.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:28640246, PMID:29522154]",613352,ENSG00000174891,,Q96IZ7,,HGNC:24152 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,NSUN2,"[FLJ20303, Misu, Myc-induced SUN-domain-containing protein, TRM4, tRNA methyltransferase 4 homolog (S. cerevisiae)]",NOP2/Sun RNA methyltransferase 2,gene with protein product,5p15.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:22541559, PMID:22541562]",610916,ENSG00000037474,,Q08J23,Q08J23,HGNC:25994 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,FBXO31,"[FBX14, FBXO14, Fbx31, MGC15419]",F-box protein 31,gene with protein product,16q24.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24623383],609102,ENSG00000103264,,Q5XUX0,Q5XUX0,HGNC:16510 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,CLIP1,"[CLIP, CLIP-170, CLIP170, CYLN1, restin]",CAP-Gly domain containing linker protein 1,gene with protein product,12q24.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24569606],179838,ENSG00000130779,,P30622,P30622,HGNC:10461 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,MED23,"[CRSP130, DRIP130, Sur2]",mediator complex subunit 23,gene with protein product,6q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21868677],605042,ENSG00000112282,,Q9ULK4,Q9ULK4,HGNC:2372 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,ST3GAL3,"['N-acetyllactosaminide alpha-2,3-sialyltransferase', ST3Gal III]","ST3 beta-galactoside alpha-2,3-sialyltransferase 3",gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21907012],606494,ENSG00000126091,,Q11203,Q11203,HGNC:10866 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,EZR,[cytovillin 2],ezrin,gene with protein product,6q25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25504542],123900,ENSG00000092820,,P15311,P15311,HGNC:12691 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,WASHC4,"[SWIP, strumpellin and WASH-interacting protein]",WASH complex subunit 4,gene with protein product,12q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21498477],615748,ENSG00000136051,,Q2M389,,HGNC:29174 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,MAN1B1,"['alpha 1,2-mannosidase', 'endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1', Alpha 1,2-mannosidase, ER alpha 1,2-mannosidase, ERManI, Endoplasmic reticulum alpha-mannosidase 1, Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1, MANA-ER, MRT15, Man9GlcNAc2-specific processing alpha-mannosidase, endoplasmic Reticulum Class I alpha-mannosidase, endoplasmic reticulum alpha-mannosidase 1]",mannosidase alpha class 1B member 1,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21763484],604346,ENSG00000177239,,Q9UKM7,Q9UKM7,HGNC:6823 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,SLC45A1,[H+/sugar symporter],solute carrier family 45 member 1,gene with protein product,1p36.23,Disease-causing germline mutation(s) in,Assessed,[PMID:28434495],605763,ENSG00000162426,1209,Q9Y2W3,,HGNC:17939 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,GRM7,,glutamate metabotropic receptor 7,gene with protein product,3p26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27435318],604101,ENSG00000196277,295,Q14831,,HGNC:4599 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,CRADD,"[RAIDD, RIP-associated ICH1/CED3-homologous protein with death domain]",CASP2 and RIPK1 domain containing adaptor with death domain,gene with protein product,12q22,Disease-causing germline mutation(s) in,Assessed,[PMID:22279524],603454,ENSG00000169372,,P78560,P78560,HGNC:2340 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,LMAN2L,"[DKFZp564L2423, VIP36-like, VIPL]","lectin, mannose binding 2 like",gene with protein product,2q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26566883],609552,ENSG00000114988,,Q9H0V9,Q9H0V9,HGNC:19263 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,PIGC,[phosphatidylinositol N-acetylglucosaminyltransferase],phosphatidylinositol glycan anchor biosynthesis class C,gene with protein product,1q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27694521],601730,ENSG00000135845,,Q92535,Q92535,HGNC:8960 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,EDC3,"[FLJ21128, LSM16, LSM16 homolog (EDC3, S. cerevisiae), YJEFN2, hYjeF_N2-15q23]",enhancer of mRNA decapping 3,gene with protein product,15q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25701870],609842,ENSG00000179151,,Q96F86,Q96F86,HGNC:26114 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,DCPS,"[5'-(N(7)-methyl 5'-triphosphoguanosine)-[mRNA] diphosphatase, HINT-5, HINT5, HSL1, HSPC015]","decapping enzyme, scavenger",gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25701870],610534,ENSG00000110063,,Q96C86,Q96C86,HGNC:29812 +GARD:0018643,Orphanet,88616,ORPHA:88616,49,C12ORF4,,chromosome 12 open reading frame 4,gene with protein product,12p13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:27311568],616082,ENSG00000047621,,Q9NQ89,,HGNC:1184 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,PPIP5K2,"[CFAP160, KIAA0433, VIP2]",diphosphoinositol pentakisphosphate kinase 2,gene with protein product,5q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29590114],611648,ENSG00000145725,,O43314,O43314,HGNC:29035 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,ELMOD3,[FLJ21977],ELMO domain containing 3,gene with protein product,2p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24039609],615427,ENSG00000115459,,Q96FG2,,HGNC:26158 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,ADCY1,"[AC1, adenylyl cyclase subtype 1]",adenylate cyclase 1,gene with protein product,7p12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24482543],103072,ENSG00000164742,1278,Q08828,Q08828,HGNC:232 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,OTOF,"[DFNB6, FER1L2, fer-1-like family member 2]",otoferlin,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",603681,ENSG00000115155,,Q9HC10,,HGNC:8515 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,MYO3A,,myosin IIIA,gene with protein product,10p12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",606808,ENSG00000095777,2112,Q8NEV4,,HGNC:7601 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,COL11A2,[HKE5],collagen type XI alpha 2 chain,gene with protein product,6p21.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",120290,ENSG00000204248,,P13942,P13942,HGNC:2187 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,CLDN14,,claudin 14,gene with protein product,21q22.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",605608,ENSG00000159261,,O95500,O95500,HGNC:2035 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,WBP2,"[GRAMD6, WBP-2]",WW domain binding protein 2,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26881968],606962,ENSG00000132471,,Q969T9,Q969T9,HGNC:12738 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,CABP2,,calcium binding protein 2,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22981119],607314,ENSG00000167791,,Q9NPB3,,HGNC:1385 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,MPZL2,[EVA],myelin protein zero like 2,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29961571],604873,ENSG00000149573,,O60487,,HGNC:3496 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,OTOG,"[FLJ46346, OTGN, mlemp]",otogelin,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23122587],604487,ENSG00000188162,,Q6ZRI0,,HGNC:8516 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,CIB2,"[KIP2, kinase interacting protein 2]",calcium and integrin binding family member 2,gene with protein product,15q25.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:23023331, PMID:24148127]",605564,ENSG00000136425,,O75838,,HGNC:24579 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,BSND,[BART],barttin CLCNK type accessory subunit beta,gene with protein product,1p32.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301607],606412,ENSG00000162399,,Q8WZ55,Q8WZ55,HGNC:16512 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,ROR1,,receptor tyrosine kinase like orphan receptor 1,gene with protein product,1p31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27162350],602336,ENSG00000185483,1845,Q01973,Q01973,HGNC:10256 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,SERPINB6,"[CAP, PTI, cytoplasmic antiproteinase, placental thrombin inhibitor]",serpin family B member 6,gene with protein product,6p25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24148127],173321,ENSG00000124570,,P35237,P35237,HGNC:8950 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,MSRB3,"[DKFZp686C1178, FLJ36866]",methionine sulfoxide reductase B3,gene with protein product,12q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24148127],613719,ENSG00000174099,,Q8IXL7,Q8IXL7,HGNC:27375 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,CLIC5,[DFNB102],chloride intracellular channel 5,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24781754],607293,ENSG00000112782,,Q9NZA1,,HGNC:13517 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,GJB3,"[CX31, connexin 31]",gap junction protein beta 3,gene with protein product,1p34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:10587579],603324,ENSG00000188910,720,O75712,O75712,HGNC:4285 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,TBC1D24,"[DFNA65, KIAA1171, TBC/LysM-associated domain containing 6, TLDC6, skywalker homolog (Drosophila)]",TBC1 domain family member 24,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24387994],613577,ENSG00000162065,,Q9ULP9,Q9ULP9,HGNC:29203 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,GJA1,"[CX43, ODD, ODOD, SDTY3, connexin 43, oculodentodigital dysplasia (syndactyly type III)]",gap junction protein alpha 1,gene with protein product,6q22.31,Candidate gene tested in,Not yet assessed,[PMID:11741837],121014,ENSG00000152661,728,P17302,P17302,HGNC:4274 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,PNPT1,"[3'-5' RNA exonuclease, OLD35, PNPase, Polynucleotide phosphorylase, old-35, polynucleotide phosphorylase]",polyribonucleotide nucleotidyltransferase 1,gene with protein product,2p16.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23084290],610316,ENSG00000138035,,Q8TCS8,,HGNC:23166 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,USH1C,"[AIE-75, NY-CO-37, NY-CO-38, PDZ-73, PDZ73, PDZD7C, harmonin]",USH1 protein network component harmonin,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",605242,ENSG00000006611,,Q9Y6N9,Q9Y6N9,HGNC:12597 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,TRIOBP,"[HRIHFB2122, KIAA1662, TAP68, Tara]",TRIO and F-actin binding protein,gene with protein product,22q13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",609761,ENSG00000100106,,Q9H2D6,,HGNC:17009 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,TPRN,[FLJ90254],taperin,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",613354,ENSG00000176058,,Q4KMQ1,Q4KMQ1,HGNC:26894 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,TMIE,,transmembrane inner ear,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",607237,ENSG00000181585,,Q8NEW7,,HGNC:30800 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,TECTA,,tectorin alpha,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",602574,ENSG00000109927,,O75443,O75443,HGNC:11720 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,MYO7A,[NSRD2],myosin VIIA,gene with protein product,11q13.5,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",276903,ENSG00000137474,,Q13402,Q13402,HGNC:7606 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,MYO6,[KIAA0389],myosin VI,gene with protein product,6q14.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",600970,ENSG00000196586,,Q9UM54,Q9UM54,HGNC:7605 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,LOXHD1,"[FLJ32670, LH2D1]",lipoxygenase homology PLAT domains 1,gene with protein product,18q21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",613072,ENSG00000167210,,Q8IVV2,,HGNC:26521 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,LHFPL5,"[MGC33835, Tmhs, dJ510O8.8, tetraspan membrane protein of hair cell stereocilia]",LHFPL tetraspan subfamily member 5,gene with protein product,6p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",609427,ENSG00000197753,,Q8TAF8,Q8TAF8,HGNC:21253 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,HGF,"[F-TCF, HGFB, HPTA, SF, fibroblast-derived tumor cytotoxic factor, hepatopoietin A, lung fibroblast-derived mitogen, scatter factor]",hepatocyte growth factor,gene with protein product,7q21.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",142409,ENSG00000019991,,P14210,P14210,HGNC:4893 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,GPSM2,"[LGN, Pins]",G protein signaling modulator 2,gene with protein product,1p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",609245,ENSG00000121957,,P81274,P81274,HGNC:29501 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,GJB2,"[CX26, NSRD1, connexin 26]",gap junction protein beta 2,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",121011,ENSG00000165474,716,P29033,P29033,HGNC:4284 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,ESPN,,espin,gene with protein product,1p36.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",606351,ENSG00000187017,,B1AK53,,HGNC:13281 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,KARS1,"[KARS1, KARS2, lysine tRNA ligase]",lysyl-tRNA synthetase 1,gene with protein product,16q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23768514],601421,ENSG00000065427,,Q15046,Q15046,HGNC:6215 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,SYNE4,"[FLJ36445, Nesp4, Nesprin-4]",spectrin repeat containing nuclear envelope family member 4,gene with protein product,19q13.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:23348741]",615535,ENSG00000181392,,Q8N205,Q8N205,HGNC:26703 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,TMEM132E,[DFNB99],transmembrane protein 132E,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:25331638],616178,ENSG00000181291,,Q6IEE7,,HGNC:26991 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,GRAP,,GRB2 related adaptor protein,gene with protein product,17p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30610177],604330,ENSG00000154016,,Q13588,Q13588,HGNC:4562 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,SLITRK6,[FLJ22774],SLIT and NTRK like family member 6,gene with protein product,13q31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23543054],609681,ENSG00000184564,,Q9H5Y7,Q9H5Y7,HGNC:23503 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,CDC14A,"[Cdc14A1, Cdc14A2, DFNB105, cdc14]",cell division cycle 14A,gene with protein product,1p21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27259055],603504,ENSG00000079335,,Q9UNH5,Q9UNH5,HGNC:1718 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,WHRN,"[CIP98, PDZD7B, USH2D]",whirlin,gene with protein product,9q32,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",607928,ENSG00000095397,,Q9P202,Q9P202,HGNC:16361 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,SLC26A4,"[PDS, pendrin]",solute carrier family 26 member 4,gene with protein product,7q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",605646,ENSG00000091137,1100,O43511,O43511,HGNC:8818 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,PTPRQ,[phosphatidylinositol phosphatase PTPRQ],protein tyrosine phosphatase receptor type Q,gene with protein product,12q21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",603317,ENSG00000139304,1864,Q9UMZ3,,HGNC:9679 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,PJVK,,pejvakin,gene with protein product,2q31.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",610219,ENSG00000204311,,Q0ZLH3,,HGNC:29502 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,OTOA,"[CT108, cancer/testis antigen 108]",otoancorin,gene with protein product,16p12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",607038,ENSG00000155719,,Q7RTW8,Q7RTW8,HGNC:16378 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,MYO15A,,myosin XVA,gene with protein product,17p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",602666,ENSG00000091536,,Q9UKN7,,HGNC:7594 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,GRXCR1,"[PPP1R88, protein phosphatase 1, regulatory subunit 88]",glutaredoxin and cysteine rich domain containing 1,gene with protein product,4p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",613283,ENSG00000215203,,A8MXD5,A8MXD5,HGNC:31673 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,TSPEAR,"[MGC11251, TSP-EAR]",thrombospondin type laminin G domain and EAR repeats,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22678063],612920,ENSG00000175894,,Q8WU66,,HGNC:1268 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,DCDC2,"[DCDC2A, KIAA1154, NPHP19, RU2, nephronophthisis 19]",doublecortin domain containing 2,gene with protein product,6p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25601850],605755,ENSG00000146038,,Q9UHG0,Q9UHG0,HGNC:18141 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,MET,"[DFNB97, HGFR, RCCP2, hepatocyte growth factor receptor]","MET proto-oncogene, receptor tyrosine kinase",gene with protein product,7q31,Disease-causing germline mutation(s) in,Assessed,[PMID:25941349],164860,ENSG00000105976,1815,P08581,P08581,HGNC:7029 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,ILDR1,"[MGC50831, angulin-2]",immunoglobulin like domain containing receptor 1,gene with protein product,3q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:24148127],609739,ENSG00000145103,,Q86SU0,,HGNC:28741 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,GIPC3,[DFNB95],GIPC PDZ domain containing family member 3,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24148127],608792,ENSG00000179855,,Q8TF64,,HGNC:18183 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,RIPOR2,"[DIFF48, KIAA0386, MYONAP, myogenesis-related and NCAM-associated protein homolog (chicken)]",RHO family interacting cell polarization regulator 2,gene with protein product,6p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24958875],611410,ENSG00000111913,,Q9Y4F9,Q9Y4F9,HGNC:13872 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,BDP1,"[HSA238520, KIAA1241, KIAA1689, TFC5, TFIIIB150, TFIIIB90]","B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB",gene with protein product,5q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24312468],607012,ENSG00000145734,,A6H8Y1,A6H8Y1,HGNC:13652 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,GRXCR2,[DFNB101],glutaredoxin and cysteine rich domain containing 2,gene with protein product,5q32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24619944],615762,ENSG00000204928,,A6NFK2,,HGNC:33862 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,CEACAM16,[DFNA4B],"CEA cell adhesion molecule 16, tectorial membrane component",gene with protein product,19q13.31-q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:29703829],614591,ENSG00000213892,,Q2WEN9,,HGNC:31948 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,OTOGL,[FLJ90579],otogelin like,gene with protein product,12q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:23122586],614925,ENSG00000165899,,Q3ZCN5,,HGNC:26901 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,EPS8,,epidermal growth factor receptor pathway substrate 8,gene with protein product,12p12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24741995],600206,ENSG00000151491,,Q12929,Q12929,HGNC:3420 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,TMPRSS3,,transmembrane serine protease 3,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",605511,ENSG00000160183,,P57727,,HGNC:11877 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,TMC1,,transmembrane channel like 1,gene with protein product,9q21.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",606706,ENSG00000165091,,Q8TDI8,,HGNC:16513 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,STRC,,stereocilin,gene with protein product,15q15.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",606440,ENSG00000242866,,Q7RTU9,,HGNC:16035 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,SLC26A5,"[DFNB61, deafness, neurosensory, autosomal recessive, 61]",solute carrier family 26 member 5,gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",604943,ENSG00000170615,1104,P58743,,HGNC:9359 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,RDX,,radixin,gene with protein product,11q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",179410,ENSG00000137710,,P35241,P35241,HGNC:9944 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,PCDH15,"[CDHR15, cadherin-related family member 15]",protocadherin related 15,gene with protein product,10q21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",605514,ENSG00000150275,,Q96QU1,,HGNC:14674 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,MARVELD2,"[FLJ30532, TRIC, Tricellulin, tricellulin]",MARVEL domain containing 2,gene with protein product,5q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",610572,ENSG00000152939,,Q8N4S9,,HGNC:26401 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,LRTOMT,"[CFAP111, COMT2, LRTOMT1, LRTOMT2]",leucine rich transmembrane and O-methyltransferase domain containing,gene with protein product,11q13.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",612414,ENSG00000184154,,Q8WZ04,Q8WZ04,HGNC:25033 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,GJB6,"[CX30, EDH, HED, connexin 30]",gap junction protein beta 6,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",604418,ENSG00000121742,717,O95452,O95452,HGNC:4288 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,ESRRB,"[ERR2, ERRb, ERRbeta, NR3B2]",estrogen related receptor beta,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",602167,ENSG00000119715,623,O95718,O95718,HGNC:3473 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,CDH23,"[CDHR23, cadherin-related family member 23]",cadherin related 23,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301607, PMID:24148127]",605516,ENSG00000107736,,Q9H251,,HGNC:13733 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,EPS8L2,"[FLJ21935, FLJ22171, MGC3088]",EPS8 like 2,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:26282398],614988,ENSG00000177106,,Q9H6S3,,HGNC:21296 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,NARS2,"[FLJ23441, SLM5, asparagine tRNA ligase 2, mitochondrial (putative)]","asparaginyl-tRNA synthetase 2, mitochondrial",gene with protein product,11q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25807530],612803,ENSG00000137513,,Q96I59,Q96I59,HGNC:26274 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,S1PR2,"[AGR16, Gpcr13, H218]",sphingosine-1-phosphate receptor 2,gene with protein product,19p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26805784],605111,ENSG00000267534,276,O95136,O95136,HGNC:3169 +GARD:0018644,Orphanet,90636,ORPHA:90636,73,ATP2B2,"[PMCA2, plasma membrane Ca2+ pump 2, plasma membrane calcium-transporting ATPase 2]",ATPase plasma membrane Ca2+ transporting 2,gene with protein product,3p25.3,Modifying germline mutation in,Assessed,[PMID:15829536],108733,ENSG00000157087,844,Q01814,Q01814,HGNC:815 +GARD:0018645,Orphanet,93592,ORPHA:93592,7,ANKS6,"[FLJ36928, NPHP16]",ankyrin repeat and sterile alpha motif domain containing 6,gene with protein product,9q22.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23793029],615370,ENSG00000165138,,Q68DC2,,HGNC:26724 +GARD:0018645,Orphanet,93592,ORPHA:93592,7,MAPKBP1,"[KIAA0596, NPHP20]",mitogen-activated protein kinase binding protein 1,gene with protein product,15q15.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28089251],616786,ENSG00000137802,,O60336,O60336,HGNC:29536 +GARD:0018645,Orphanet,93592,ORPHA:93592,7,WDR19,"[DYF-2, FAP66, FLJ23127, IFT144, KIAA1638, NPHP13, ORF26, Oseg6, Pwdmp, intraflagellar transport 144 homolog (Chlamydomonas)]",WD repeat domain 19,gene with protein product,4p14,Disease-causing germline mutation(s) in,Assessed,[PMID:22019273],608151,ENSG00000157796,,Q8NEZ3,Q8NEZ3,HGNC:18340 +GARD:0018645,Orphanet,93592,ORPHA:93592,7,NPHP1,"[JBTS4, SLSN1]",nephrocystin 1,gene with protein product,2q13,Disease-causing germline mutation(s) in,Assessed,,607100,ENSG00000144061,,O15259,O15259,HGNC:7905 +GARD:0018645,Orphanet,93592,ORPHA:93592,7,GLIS2,"[Gli-similar 2, NPHP7, nephrocystin-7]",GLIS family zinc finger 2,gene with protein product,16p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17618285],608539,ENSG00000126603,,Q9BZE0,Q9BZE0,HGNC:29450 +GARD:0018645,Orphanet,93592,ORPHA:93592,7,ADAMTS9,[KIAA1312],ADAM metallopeptidase with thrombospondin type 1 motif 9,gene with protein product,3p14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30609407],605421,ENSG00000163638,1682,Q9P2N4,Q9P2N4,HGNC:13202 +GARD:0018645,Orphanet,93592,ORPHA:93592,7,NPHP4,"[KIAA0673, POC10, POC10 centriolar protein homolog (Chlamydomonas), SLSN4, nephroretinin]",nephrocystin 4,gene with protein product,1p36.31,Disease-causing germline mutation(s) in,Assessed,,607215,ENSG00000131697,,O75161,O75161,HGNC:19104 +GARD:0018646,Orphanet,137634,ORPHA:137634,1,RNF135,"[MGC13061, riplet]",ring finger protein 135,gene with protein product,17q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17632510],611358,ENSG00000181481,,Q8IUD6,Q8IUD6,HGNC:21158 +GARD:0018647,Orphanet,168615,ORPHA:168615,1,AFP,[FETA],alpha fetoprotein,gene with protein product,4q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:7684942],104150,ENSG00000081051,,P02771,P02771,HGNC:317 +GARD:0018648,Orphanet,251380,ORPHA:251380,5,BCL11A,"[BCL11A-L, BCL11A-S, BCL11A-XL, CTIP1, HBFQTL5, SMARCM1, ZNF856]",BAF chromatin remodeling complex subunit BCL11A,gene with protein product,2p16.1,Candidate gene tested in,Not yet assessed,,606557,ENSG00000119866,,Q9H165,,HGNC:13221 +GARD:0018648,Orphanet,251380,ORPHA:251380,5,HBG2,[HBG-T1],hemoglobin subunit gamma 2,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:2468996, PMID:8598197]",142250,ENSG00000196565,,P69892,P69892,HGNC:4832 +GARD:0018648,Orphanet,251380,ORPHA:251380,5,HBG1,[HBG-T2],hemoglobin subunit gamma 1,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:2468996, PMID:8598197]",142200,ENSG00000213934,,P69891,P69891,HGNC:4831 +GARD:0018648,Orphanet,251380,ORPHA:251380,5,KLF1,"[EKLF, erythroid Kruppel-like factor]",Kruppel like factor 1,gene with protein product,19p13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20676099],600599,ENSG00000105610,,Q13351,,HGNC:6345 +GARD:0018648,Orphanet,251380,ORPHA:251380,5,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:20301551],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0018649,Orphanet,254913,ORPHA:254913,8,ATP5F1A,"[ATP5A, OMR, ORM, hATP1]",ATP synthase F1 subunit alpha,gene with protein product,18q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23599390],164360,ENSG00000152234,796,P25705,P25705,HGNC:823 +GARD:0018649,Orphanet,254913,ORPHA:254913,8,MT-ATP8,"[A6L, ATP8, URFA6L, mitochondrially encoded ATP synthase membrane subunit A6L]",mitochondrially encoded ATP synthase membrane subunit 8,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:21686774],516070,ENSG00000228253,809,P03928,P03928,HGNC:7415 +GARD:0018649,Orphanet,254913,ORPHA:254913,8,ATP5MK,"[AGP, DAPIT, Diabetes Associated Protein in Insulin-sensitive Tissues, MGC14697, bA792D24.4]",ATP synthase membrane subunit k,gene with protein product,10q24.33,Disease-causing germline mutation(s) in,Assessed,[PMID:29917077],615204,ENSG00000173915,,Q96IX5,,HGNC:30889 +GARD:0018649,Orphanet,254913,ORPHA:254913,8,MT-ATP6,"[ATP6, ATPase-6, Su6m, mitochondrially encoded ATP synthase membrane subunit a]",mitochondrially encoded ATP synthase membrane subunit 6,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:21686774, PMID:28412374]",516060,ENSG00000198899,801,P00846,P00846,HGNC:7414 +GARD:0018649,Orphanet,254913,ORPHA:254913,8,ATP5F1D,,ATP synthase F1 subunit delta,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29478781],603150,ENSG00000099624,799,P30049,,HGNC:837 +GARD:0018649,Orphanet,254913,ORPHA:254913,8,ATPAF2,"[ATP12, Atp12p, LP3663, MGC29736]",ATP synthase mitochondrial F1 complex assembly factor 2,gene with protein product,17p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:14757859],608918,ENSG00000171953,,Q8N5M1,Q8N5M1,HGNC:18802 +GARD:0018649,Orphanet,254913,ORPHA:254913,8,ATPAF1,"[ATP11, Atp11p, FLJ22351]",ATP synthase mitochondrial F1 complex assembly factor 1,gene with protein product,1p33,Candidate gene tested in,Not yet assessed,,608917,ENSG00000123472,,Q5TC12,,HGNC:18803 +GARD:0018649,Orphanet,254913,ORPHA:254913,8,ATP5F1E,,ATP synthase F1 subunit epsilon,gene with protein product,20q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:20566710],606153,ENSG00000124172,800,P56381,P56381,HGNC:838 +GARD:0018650,Orphanet,280654,ORPHA:280654,1,FZD6,[Hfz6],frizzled class receptor 6,gene with protein product,8q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21665003],603409,ENSG00000164930,234,O60353,O60353,HGNC:4044 +GARD:0018651,Orphanet,363989,ORPHA:363989,1,PLA2G5,,phospholipase A2 group V,gene with protein product,1p36.13,Disease-causing germline mutation(s) in,Assessed,[PMID:22137173],601192,ENSG00000127472,1430,P39877,P39877,HGNC:9038 +GARD:0018652,Orphanet,440713,ORPHA:440713,1,SHPK,[SHK],sedoheptulokinase,gene with protein product,17p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25647543],605060,ENSG00000197417,,Q9UHJ6,Q9UHJ6,HGNC:1492 +GARD:0018653,Orphanet,443950,ORPHA:443950,1,DNAJB2,"[CMT2T, HSPF3]",DnaJ heat shock protein family (Hsp40) member B2,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:25274842],604139,ENSG00000135924,,P25686,,HGNC:5228 +GARD:0018654,Orphanet,444069,ORPHA:444069,1,CENPF,"[hcp-1, mitosin]",centromere protein F,gene with protein product,1q41,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25564561],600236,ENSG00000117724,,P49454,P49454,HGNC:1857 +GARD:0018655,Orphanet,572773,ORPHA:572773,1,DONSON,"[B17, C2TA, DKFZP434M035]",DNA replication fork stabilization factor DONSON,gene with protein product,21q22.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:28191891, PMID:28630177, PMID:31191207, PMID:31320746]",611428,ENSG00000159147,,Q9NYP3,,HGNC:2993 +GARD:0018656,Orphanet+OMIM,141749,OMIM:141749,3,HBG2,"[HBG-T1, fetal hemoglobin F subunit gamma 2]",hemoglobin subunit gamma 2,gene with protein product,11p15.4,The molecular basis of the disorder is known,Unknown,,142250,ENSG00000196565,,P69892,P69892,HGNC:4832 +GARD:0018656,Orphanet+OMIM,141749,OMIM:141749,3,HBG1,"[HBG-T2, fetal hemoglobin F subunit gamma 1]",hemoglobin subunit gamma 1,gene with protein product,11p15.4,The molecular basis of the disorder is known,Unknown,,142200,ENSG00000213934,,P69891,P69891,HGNC:4831 +GARD:0018656,Orphanet+OMIM,141749,OMIM:141749,3,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,The molecular basis of the disorder is known,Unknown,,141900,ENSG00000244734,ligandId:5370,P68871,P68871,HGNC:4827 +GARD:0018657,Orphanet+OMIM,142470,OMIM:142470,1,HBFQTL2,[FCP],Fetal hemoglobin quantitative trait locus 2,unknown,6q22.3-q23.1,The disease phenotype itself was mapped,Unknown,,142470,,,,,GeneID:7954 +GARD:0018658,Orphanet+OMIM,305435,OMIM:305435,1,FCP1,"[FCP, FCPX, HBFQTL3]",Fetal hemoglobin quantitative trait locus 3,unknown,Xp22.2,The disease phenotype itself was mapped,Unknown,,305435,,,,,GeneID:2221 +GARD:0018659,Orphanet+OMIM,604233,OMIM:604233,1,SCN1B,,sodium voltage-gated channel beta subunit 1,gene with protein product,19q13.11,The molecular basis of the disorder is known,Unknown,,600235,ENSG00000105711,,Q07699,Q07699,HGNC:10586 +GARD:0018660,Orphanet+OMIM,604273,OMIM:604273,1,ATPAF2,"[ATP12, Atp12p, LP3663, MGC29736]",ATP synthase mitochondrial F1 complex assembly factor 2,gene with protein product,17p11.2,The molecular basis of the disorder is known,Unknown,,608918,ENSG00000171953,,Q8N5M1,,HGNC:18802 +GARD:0018661,Orphanet+OMIM,604403,OMIM:604403,1,SCN1A,"[GEFSP2, HBSCI, NAC1, Nav1.1, SMEI]",sodium voltage-gated channel alpha subunit 1,gene with protein product,2q24.3,The molecular basis of the disorder is known,Unknown,,182389,ENSG00000144285,objectId:578,P35498,P35498,HGNC:10585 +GARD:0018662,Orphanet+OMIM,609800,OMIM:609800,1,GEFSP4,,"Generalized epilepsy with febrile seizures plus, type 4",unknown,2p24,The disease phenotype itself was mapped,Unknown,,609800,,,,,GeneID:100188796 +GARD:0018663,Orphanet+OMIM,612279,OMIM:612279,1,GEFSP6,,"Generalized epilepsy with febrile seizures plus, type 6",unknown,8p23-p21,The disease phenotype itself was mapped,Unknown,,612279,,,,,GeneID:100190787 +GARD:0018664,Orphanet+OMIM,613828,OMIM:613828,1,GEFSP8,,"Generalized epilepsy with febrile seizures plus, type 8",unknown,6q16.3-q22.31,The disease phenotype itself was mapped,Unknown,,613828,,,,,GeneID:100653381 +GARD:0018665,Orphanet+OMIM,613863,OMIM:613863,1,GEFSP7,[FEB3B],"Generalized epilepsy with febrile seizures plus, type 7",unknown,2q23-q24,The disease phenotype itself was mapped,Unknown,,613863,,,,,GeneID:120325367 +GARD:0018666,Orphanet+OMIM,614053,OMIM:614053,1,ATP5F1E,,ATP synthase F1 subunit epsilon,gene with protein product,20q13.32,The molecular basis of the disorder is known,Unknown,,606153,ENSG00000124172,objectId:800,P56381,P56381,HGNC:838 +GARD:0018667,Orphanet+OMIM,615228,OMIM:615228,1,ATP5F1A,"[ATP5A, OMR, ORM, hATP1]",ATP synthase F1 subunit alpha,gene with protein product,18q21.1,The molecular basis of the disorder is known,Unknown,,164360,ENSG00000152234,objectId:796,P25705,P25705,HGNC:823 +GARD:0018668,Orphanet+OMIM,616172,OMIM:616172,1,STX1B,,syntaxin 1B,gene with protein product,16p11.2,The molecular basis of the disorder is known,Unknown,,601485,ENSG00000099365,,P61266,P61266,HGNC:18539 +GARD:0018669,Orphanet+OMIM,617756,OMIM:617756,1,KRT83,"[Hb-3, hard keratin type II]",keratin 83,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,602765,ENSG00000170523,,P78385,P78385,HGNC:6460 +GARD:0018670,Orphanet+OMIM,618120,OMIM:618120,1,ATP5F1D,,ATP synthase F1 subunit delta,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,603150,ENSG00000099624,objectId:799,P30049,P30049,HGNC:837 +GARD:0018671,Orphanet+OMIM,618482,OMIM:618482,1,HCN1,"[BCNG-1, HAC-2]",hyperpolarization activated cyclic nucleotide gated potassium channel 1,gene with protein product,5p12,The molecular basis of the disorder is known,Unknown,,602780,ENSG00000164588,objectId:400,O60741,O60741,HGNC:4845 +GARD:0018672,Orphanet+OMIM,618531,OMIM:618531,1,TRPM4,[FLJ20041],transient receptor potential cation channel subfamily M member 4,gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,606936,ENSG00000130529,objectId:496,Q8TD43,Q8TD43,HGNC:17993 +GARD:0018673,Orphanet+OMIM,618683,OMIM:618683,1,ATP5MK,"[AGP, DAPIT, Diabetes Associated Protein in Insulin-sensitive Tissues, MGC14697, bA792D24.4]",ATP synthase membrane subunit k,gene with protein product,10q24.33,The molecular basis of the disorder is known,Unknown,,615204,ENSG00000173915,,Q96IX5,,HGNC:30889 +GARD:0018674,Orphanet+OMIM,619209,OMIM:619209,1,PERP,"[KCP1, KRTCAP1, PIGPC1, THW, dJ496H19.1, keratinocyte associated protein 1]",p53 apoptosis effector related to PMP22,gene with protein product,6q23.3,The molecular basis of the disorder is known,Unknown,,609301,ENSG00000112378,,Q96FX8,Q96FX8,HGNC:17637 +GARD:0018695,Orphanet,536,ORPHA:536,29,BLK,[MGC10442],"BLK proto-oncogene, Src family tyrosine kinase",gene with protein product,8p23.1,Major susceptibility factor in,Assessed,"[PMID:18204098, PMID:22654485, PMID:22696686, PMID:23917156, PMID:23943494, PMID:24091983]",191305,ENSG00000136573,1940,P51451,P51451,HGNC:1057 +GARD:0018695,Orphanet,536,ORPHA:536,29,STAT4,,signal transducer and activator of transcription 4,gene with protein product,2q32.2-q32.3,Major susceptibility factor in,Assessed,"[PMID:17804842, PMID:22654485, PMID:23943494]",600558,ENSG00000138378,,Q14765,Q14765,HGNC:11365 +GARD:0018695,Orphanet,536,ORPHA:536,29,SPP1,"[BSPI, ETA-1, Early T-lymphocyte activation 1, early T-lymphocyte activation 1]",secreted phosphoprotein 1,gene with protein product,4q22.1,Major susceptibility factor in,Assessed,"[PMID:11933203, PMID:15692970, PMID:18335026, PMID:19440199, PMID:24023622]",166490,ENSG00000118785,,P10451,P10451,HGNC:11255 +GARD:0018695,Orphanet,536,ORPHA:536,29,BANK1,"[BANK, FLJ20706]",B cell scaffold protein with ankyrin repeats 1,gene with protein product,4q24,Major susceptibility factor in,Assessed,"[PMID:21900951, PMID:21978998, PMID:22039224, PMID:22654485, PMID:23943494]",610292,ENSG00000153064,,Q8NDB2,,HGNC:18233 +GARD:0018695,Orphanet,536,ORPHA:536,29,ETS1,"[Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1, ETS-1, FLJ10768, ets protein]","ETS proto-oncogene 1, transcription factor",gene with protein product,11q24.3,Major susceptibility factor in,Assessed,"[PMID:22087647, PMID:23236436]",164720,ENSG00000134954,,P14921,P14921,HGNC:3488 +GARD:0018695,Orphanet,536,ORPHA:536,29,TNIP1,"[ABIN-1, KIAA0113, NAF1, Nef-associated factor 1 SNP, VAN, virion-associated nuclear-shuttling protein]",TNFAIP3 interacting protein 1,gene with protein product,5q33.1,Major susceptibility factor in,Assessed,"[PMID:19838195, PMID:22087647, PMID:22654485, PMID:22833143, PMID:23858047, PMID:23917156]",607714,ENSG00000145901,,Q15025,Q15025,HGNC:16903 +GARD:0018695,Orphanet,536,ORPHA:536,29,FCGR2B,"[CD32, CD32B, Fc gamma receptor IIb]",Fc fragment of IgG receptor IIb,gene with protein product,1q23.3,Major susceptibility factor in,Assessed,"[PMID:12115230, PMID:20385827, PMID:23943494]",604590,ENSG00000072694,,P31994,P31994,HGNC:3618 +GARD:0018695,Orphanet,536,ORPHA:536,29,DNASE1,,deoxyribonuclease 1,gene with protein product,16p13.3,Major susceptibility factor in,Assessed,[PMID:11479590],125505,ENSG00000213918,,P24855,,HGNC:2956 +GARD:0018695,Orphanet,536,ORPHA:536,29,IGHG1,,immunoglobulin heavy constant gamma 1 (G1m marker),gene with protein product,14q32.33,Modifying germline mutation in,Assessed,[PMID:30287618],147100,ENSG00000211896,,P01857,P01857,HGNC:5525 +GARD:0018695,Orphanet,536,ORPHA:536,29,PDCD1,"[CD279, PD-1, PD1, hSLE1]",programmed cell death 1,gene with protein product,2q37.3,Major susceptibility factor in,Assessed,[PMID:12402038],600244,ENSG00000188389,2760,Q15116,Q15116,HGNC:8760 +GARD:0018695,Orphanet,536,ORPHA:536,29,FCGR3B,"[CD16, CD16b, Fc gamma receptor IIIb]",Fc fragment of IgG receptor IIIb,gene with protein product,1q23.3,Major susceptibility factor in,Assessed,"[PMID:20442749, PMID:21296850, PMID:23917156]",610665,ENSG00000162747,,O75015,O75015,HGNC:3620 +GARD:0018695,Orphanet,536,ORPHA:536,29,CTLA4,"[CD, CD152, CTLA-4, GSE]",cytotoxic T-lymphocyte associated protein 4,gene with protein product,2q33.2,Major susceptibility factor in,Assessed,[PMID:23922195],123890,ENSG00000163599,2743,P16410,P16410,HGNC:2505 +GARD:0018695,Orphanet,536,ORPHA:536,29,KIAA0319L,"[AAV receptor, AAVR, KIAA1837]",KIAA0319 like,gene with protein product,1p34.3,Major susceptibility factor in,Assessed,[PMID:23740937],613535,ENSG00000142687,,Q8IZA0,Q8IZA0,HGNC:30071 +GARD:0018695,Orphanet,536,ORPHA:536,29,C4B,"[C4B1, C4B3, C4F, CH, CO4, CPAMD3]",complement C4B (Chido blood group),gene with protein product,6p21.33,Major susceptibility factor in,Assessed,"[PMID:10092831, PMID:12133986, PMID:15998580, PMID:17503323, PMID:22654485, PMID:23914156, PMID:3265961]",120820,ENSG00000224389,,P0C0L5,P0C0L5,HGNC:1324 +GARD:0018695,Orphanet,536,ORPHA:536,29,TNFSF4,"[CD252, OX-40L, gp34]",TNF superfamily member 4,gene with protein product,1q25.1,Major susceptibility factor in,Assessed,"[PMID:19838193, PMID:21905002, PMID:22654485, PMID:22820624, PMID:22850862, PMID:23943494, PMID:24091983]",603594,ENSG00000117586,,P23510,P23510,HGNC:11934 +GARD:0018695,Orphanet,536,ORPHA:536,29,TREX1,[DRN3],three prime repair exonuclease 1,gene with protein product,3p21.31,Major susceptibility factor in,Assessed,"[PMID:17660818, PMID:23732569]",606609,ENSG00000213689,,Q9NSU2,Q9NSU2,HGNC:12269 +GARD:0018695,Orphanet,536,ORPHA:536,29,MECP2,,methyl-CpG binding protein 2,gene with protein product,Xq28,Major susceptibility factor in,Assessed,"[PMID:19440199, PMID:22654485, PMID:22904263, PMID:23428850, PMID:23857988]",300005,ENSG00000169057,,P51608,P51608,HGNC:6990 +GARD:0018695,Orphanet,536,ORPHA:536,29,PXK,"[FLJ20335, Slob]",PX domain containing serine/threonine kinase like,gene with protein product,3p14.3,Major susceptibility factor in,Assessed,[PMID:22592861],611450,ENSG00000168297,2183,Q7Z7A4,,HGNC:23326 +GARD:0018695,Orphanet,536,ORPHA:536,29,ITGAM,"[CD11b, MAC-1, complement component 3 receptor 3 subunit]",integrin subunit alpha M,gene with protein product,16p11.2,Major susceptibility factor in,Assessed,"[PMID:19286673, PMID:23917156, PMID:23943494]",120980,ENSG00000169896,2452,P11215,P11215,HGNC:6149 +GARD:0018695,Orphanet,536,ORPHA:536,29,C4A,"[C4, C4A2, C4A3, C4A4, C4A6, C4B, C4S, CO4, CPAMD2, RG]",complement C4A (Rodgers blood group),gene with protein product,6p21.33,Major susceptibility factor in,Assessed,"[PMID:10092831, PMID:12133986, PMID:15998580, PMID:17503323, PMID:22654485, PMID:23914156]",120810,ENSG00000244731,,P0C0L4,P0C0L4,HGNC:1323 +GARD:0018695,Orphanet,536,ORPHA:536,29,JAZF1,"[DKFZp761K2222, TIP27, ZNF802]",JAZF zinc finger 1,gene with protein product,7p15.2-p15.1,Major susceptibility factor in,Assessed,[PMID:19838195],606246,ENSG00000153814,,Q86VZ6,,HGNC:28917 +GARD:0018695,Orphanet,536,ORPHA:536,29,IL10,"[CSIF, IL-10, IL10A, T-cell growth inhibitory factor, TGIF, cytokine synthesis inhibitory factor]",interleukin 10,gene with protein product,1q32.1,Major susceptibility factor in,Assessed,"[PMID:19838195, PMID:20576226, PMID:22654485, PMID:23936042]",124092,ENSG00000136634,,P22301,P22301,HGNC:5962 +GARD:0018695,Orphanet,536,ORPHA:536,29,IRF5,[IRF-5],interferon regulatory factor 5,gene with protein product,7q32.1,Major susceptibility factor in,Assessed,"[PMID:15657875, PMID:22654485, PMID:23917156, PMID:23943494]",607218,ENSG00000128604,,Q13568,Q13568,HGNC:6120 +GARD:0018695,Orphanet,536,ORPHA:536,29,CR2,"[C3DR, CD21, Epstein-Barr virus receptor]",complement C3d receptor 2,gene with protein product,1q32.2,Major susceptibility factor in,Assessed,"[PMID:17360460, PMID:22673213]",120650,ENSG00000117322,,P20023,P20023,HGNC:2336 +GARD:0018695,Orphanet,536,ORPHA:536,29,HLA-DRB1,,"major histocompatibility complex, class II, DR beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,"[PMID:19838195, PMID:21695597, PMID:22654485, PMID:22893315, PMID:23407388, PMID:23793423, PMID:23917156]",142857,ENSG00000196126,,P01911,P04229,HGNC:4948 +GARD:0018695,Orphanet,536,ORPHA:536,29,UBE2L3,[UBCH7],ubiquitin conjugating enzyme E2 L3,gene with protein product,22q11.21,Major susceptibility factor in,Assessed,"[PMID:22045845, PMID:22476155, PMID:23917156, PMID:23943494, PMID:24091983]",603721,ENSG00000185651,,P68036,P68036,HGNC:12488 +GARD:0018695,Orphanet,536,ORPHA:536,29,TNFAIP3,"[A20, OTUD7C]",TNF alpha induced protein 3,gene with protein product,6q23.3,Major susceptibility factor in,Assessed,"[PMID:20617138, PMID:21336280, PMID:22654485, PMID:23943494, PMID:24039598, PMID:24091983]",191163,ENSG00000118503,,P21580,P21580,HGNC:11896 +GARD:0018695,Orphanet,536,ORPHA:536,29,IRAK1,"[IRAK, pelle]",interleukin 1 receptor associated kinase 1,gene with protein product,Xq28,Major susceptibility factor in,Assessed,"[PMID:18050247, PMID:19440199, PMID:22654485, PMID:22904263, PMID:23435933, PMID:23943494]",300283,ENSG00000184216,2042,P51617,P51617,HGNC:6112 +GARD:0018695,Orphanet,536,ORPHA:536,29,PTPN22,"[Lyp, Lyp1, Lyp2]",protein tyrosine phosphatase non-receptor type 22,gene with protein product,1p13.2,Major susceptibility factor in,Assessed,"[PMID:15273934, PMID:19838195, PMID:22654485, PMID:23943494, PMID:23950893, PMID:23966601]",600716,ENSG00000134242,3084,Q9Y2R2,Q9Y2R2,HGNC:9652 +GARD:0018719,Orphanet,1349,ORPHA:1349,1,MT-TK,[trnK],mitochondrially encoded tRNA-Lys (AAA/G),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:8651277],590060,ENSG00000210156,,,,HGNC:7489 +GARD:0018730,Orphanet,1627,ORPHA:1627,2,NSD1,"[ARA267, FLJ22263, KMT3B]",nuclear receptor binding SET domain protein 1,gene with protein product,5q35.3,Role in the phenotype of,Assessed,[PMID:17910075],606681,ENSG00000165671,2696,Q96L73,Q96L73,HGNC:14234 +GARD:0018730,Orphanet,1627,ORPHA:1627,2,NKX2-5,"[CSX1, NKX2.5, NKX4-1, tinman (Drosophila) homolog, tinman paralog (Drosophila)]",NK2 homeobox 5,gene with protein product,5q34,Role in the phenotype of,Assessed,[PMID:17910075],600584,ENSG00000183072,,P52952,P52952,HGNC:2488 +GARD:0018747,Orphanet,1772,ORPHA:1772,1,SRY,"[TDF, testis-determining factor]",sex determining region Y,gene with protein product,Yp11.2,Candidate gene tested in,Not yet assessed,[PMID:20699606],480000,ENSG00000184895,,Q05066,Q05066,HGNC:11311 +GARD:0018853,Orphanet,57782,ORPHA:57782,1,GNAS,"[G protein subunit alpha S, GNASXL, GPSA, NESP, NESP55, SCG6, SgVI, secretogranin VI]",GNAS complex locus,gene with protein product,20q13.32,Candidate gene tested in,Not yet assessed,"[PMID:19287459, PMID:22609175]",139320,ENSG00000087460,,O95467; P63092; P84996; Q5JWF2,P63092,HGNC:4392 +GARD:0018896,Orphanet,69063,ORPHA:69063,1,MME,"[CALLA, CD10, NEP, enkephalinase, neprilysin, neutral endopeptidase]",membrane metalloendopeptidase,gene with protein product,3q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:15464186],120520,ENSG00000196549,1611,P08473,P08473,HGNC:7154 +GARD:0018901,Orphanet,99977,ORPHA:99977,4,DLEC1,"[CFAP81, DLC1, FAP81, cilia and flagella associated protein 81]",DLEC1 cilia and flagella associated protein,gene with protein product,3p22.2,Candidate gene tested in,Not yet assessed,[PMID:10213508],604050,ENSG00000008226,,Q9Y238,,HGNC:2899 +GARD:0018901,Orphanet,99977,ORPHA:99977,4,RNF6,"[DKFZp686P0776, RING-H2 protein RNF-6]",ring finger protein 6,gene with protein product,13q12.13,Candidate gene tested in,Not yet assessed,[PMID:12154016],604242,ENSG00000127870,,Q9Y252,Q9Y252,HGNC:10069 +GARD:0018901,Orphanet,99977,ORPHA:99977,4,TGFBR2,"[TBR-ii, TBRII]",transforming growth factor beta receptor 2,gene with protein product,3p24.1,Candidate gene tested in,Not yet assessed,[PMID:17680270],190182,ENSG00000163513,1795,P37173,P37173,HGNC:11773 +GARD:0018901,Orphanet,99977,ORPHA:99977,4,WWOX,"[FOR, SDR41C1, WOX1, short chain dehydrogenase/reductase family 41C, member 1]",WW domain containing oxidoreductase,gene with protein product,16q23.1-q23.2,Major susceptibility factor in,Assessed,"[PMID:11956080, PMID:22213016]",605131,ENSG00000186153,,Q9NZC7,Q9NZC7,HGNC:12799 +GARD:0018913,Orphanet,71518,ORPHA:71518,1,CACNA1A,"[APCA, Cav2.1, EA2, FHM, HPCA]",calcium voltage-gated channel subunit alpha1 A,gene with protein product,19p13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:12162387],601011,ENSG00000141837,532,O00555,O00555,HGNC:1388 +GARD:0018931,Orphanet,75857,ORPHA:75857,1,ERMARD,"[FLJ11152, dJ266L20.3]",ER membrane associated RNA degradation,gene with protein product,6q27,Role in the phenotype of,Assessed,[PMID:24056535],615532,ENSG00000130023,,Q5T6L9,,HGNC:21056 +GARD:0018934,Orphanet,77301,ORPHA:77301,1,PTCH1,[BCNS],patched 1,gene with protein product,9q22.32,Role in the phenotype of,Assessed,[PMID:23169491],601309,ENSG00000185920,,Q13635,Q13635,HGNC:9585 +GARD:0018941,Orphanet,79105,ORPHA:79105,3,CREB3L2,"[BBF2H7, TCAG_1951439]",cAMP responsive element binding protein 3 like 2,gene with protein product,7q33,Part of a fusion gene in,Assessed,,608834,ENSG00000182158,,Q70SY1,Q70SY1,HGNC:23720 +GARD:0018941,Orphanet,79105,ORPHA:79105,3,FUS,"[FUS1, HNRNPP2, TLS, heterogeneous nuclear ribonucleoprotein P2, hnRNP-P2, translocated in liposarcoma]",FUS RNA binding protein,gene with protein product,16p11.2,Part of a fusion gene in,Assessed,,137070,ENSG00000089280,,P35637,P35637,HGNC:4010 +GARD:0018941,Orphanet,79105,ORPHA:79105,3,CREB3L1,"[BBF-2 homolog (drosophila), OASIS, old astrocyte specifically induced substance]",cAMP responsive element binding protein 3 like 1,gene with protein product,11p11.2,Part of a fusion gene in,Assessed,,616215,ENSG00000157613,,Q96BA8,Q96BA8,HGNC:18856 +GARD:0018982,Orphanet,79254,ORPHA:79254,1,PAH,"[PH, phenylalanine 4-monooxygenase]",phenylalanine hydroxylase,gene with protein product,12q23.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301677],612349,ENSG00000171759,1240,P00439,P00439,HGNC:8582 +GARD:0019023,Orphanet,79483,ORPHA:79483,2,GNA11,"[FBH, FBH2, FHH2]",G protein subunit alpha 11,gene with protein product,19p13.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:26778290],139313,ENSG00000088256,,P29992,P29992,HGNC:4379 +GARD:0019023,Orphanet,79483,ORPHA:79483,2,GNAQ,"[G-ALPHA-q, GAQ]",G protein subunit alpha q,gene with protein product,9q21.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:26778290],600998,ENSG00000156052,2914,P50148,P50148,HGNC:4390 +GARD:0019024,Orphanet,79484,ORPHA:79484,1,GNA11,"[FBH, FBH2, FHH2]",G protein subunit alpha 11,gene with protein product,19p13.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:26778290],139313,ENSG00000088256,,P29992,P29992,HGNC:4379 +GARD:0019027,Orphanet,79651,ORPHA:79651,1,PAH,"[PH, phenylalanine 4-monooxygenase]",phenylalanine hydroxylase,gene with protein product,12q23.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301677],612349,ENSG00000171759,1240,P00439,P00439,HGNC:8582 +GARD:0019038,Orphanet,83465,ORPHA:83465,4,ZNF365,"[KIAA0844, Su48, Talanin, UAN]",zinc finger protein 365,gene with protein product,10q21.2,Major susceptibility factor in,Assessed,[PMID:24204295],607818,ENSG00000138311,,Q70YC4; Q70YC5,,HGNC:18194 +GARD:0019038,Orphanet,83465,ORPHA:83465,4,HLA-DQB1,"[CELIAC1, IDDM1]","major histocompatibility complex, class II, DQ beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,"[PMID:18706091, PMID:21345702]",604305,ENSG00000179344,,P01920,P01920,HGNC:4944 +GARD:0019038,Orphanet,83465,ORPHA:83465,4,HLA-DRB1,,"major histocompatibility complex, class II, DR beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,"[PMID:18706091, PMID:19410508]",142857,ENSG00000196126,,P01911,P04229,HGNC:4948 +GARD:0019038,Orphanet,83465,ORPHA:83465,4,HCRT,"[OX, PPOX, orexin, prepro-orexin]",hypocretin neuropeptide precursor,gene with protein product,17q21.2,Candidate gene tested in,Not yet assessed,"[PMID:10973318, PMID:23643651]",602358,ENSG00000161610,,O43612,O43612,HGNC:4847 +GARD:0019051,Orphanet,85198,ORPHA:85198,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:22570642, PMID:26250472]",120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0019052,Orphanet,85200,ORPHA:85200,1,BMPER,"[CRIM3, Cv2, crossveinless-2]",BMP binding endothelial regulator,gene with protein product,7p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26728142],608699,ENSG00000164619,,Q8N8U9,,HGNC:24154 +GARD:0019071,Orphanet,86849,ORPHA:86849,2,MYB,[c-myb],"MYB proto-oncogene, transcription factor",gene with protein product,6q23.3,Part of a fusion gene in,Assessed,[PMID:21474671],189990,ENSG00000118513,,P10242,P10242,HGNC:7545 +GARD:0019071,Orphanet,86849,ORPHA:86849,2,GATA1,"[ERYF1, GATA-1, NF-E1, NFE1, nuclear factor, erythroid 1]",GATA binding protein 1,gene with protein product,Xp11.23,Part of a fusion gene in,Assessed,[PMID:21474671],305371,ENSG00000102145,,P15976,P15976,HGNC:4170 +GARD:0019087,Orphanet,86911,ORPHA:86911,1,SLC2A1,"[DYT18, DYT9]",solute carrier family 2 member 1,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26193382],138140,ENSG00000117394,875,P11166,P11166,HGNC:11005 +GARD:0019103,Orphanet,90039,ORPHA:90039,1,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:11757720, PMID:25332633]",141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0019123,Orphanet,90118,ORPHA:90118,1,MFN2,"[CMT2A2, CPRP1, KIAA0214, MARF]",mitofusin 2,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,,608507,ENSG00000116688,3131,O95140,O95140,HGNC:16877 +GARD:0019136,Orphanet,90389,ORPHA:90389,1,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,,164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0019157,Orphanet,91347,ORPHA:91347,1,CDH23,"[CDHR23, cadherin-related family member 23]",cadherin related 23,gene with protein product,10q22.1,Major susceptibility factor in,Assessed,[PMID:28413019],605516,ENSG00000107736,,Q9H251,,HGNC:13733 +GARD:0019162,Orphanet,91352,ORPHA:91352,1,JMJD1C,"[DKFZp761F0118, FLJ14374, KDM3C, KIAA1380]",jumonji domain containing 1C,gene with protein product,10q21.3,Major susceptibility factor in,Assessed,[PMID:24896186],604503,ENSG00000171988,2663,Q15652,Q15652,HGNC:12313 +GARD:0019177,Orphanet,93172,ORPHA:93172,1,HNF1B,"[HNF1beta, HNF1ß, LFB3, MODY5, VHNF1, hepatocyte nuclear factor 1 beta]",HNF1 homeobox B,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:28566479],189907,ENSG00000275410,,P35680,P35680,HGNC:11630 +GARD:0019178,Orphanet,93173,ORPHA:93173,1,HNF1B,"[HNF1beta, HNF1ß, LFB3, MODY5, VHNF1, hepatocyte nuclear factor 1 beta]",HNF1 homeobox B,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:28566479],189907,ENSG00000275410,,P35680,P35680,HGNC:11630 +GARD:0019181,Orphanet,93277,ORPHA:93277,1,GNAS,"[G protein subunit alpha S, GNASXL, GPSA, NESP, NESP55, SCG6, SgVI, secretogranin VI]",GNAS complex locus,gene with protein product,20q13.32,Disease-causing somatic mutation(s) in,Assessed,"[PMID:10535539, PMID:10646121]",139320,ENSG00000087460,,O95467; P63092; P84996; Q5JWF2,P63092,HGNC:4392 +GARD:0019183,Orphanet,93399,ORPHA:93399,1,NEU1,,neuraminidase 1,gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:19568825],608272,ENSG00000204386,,Q99519,Q99519,HGNC:7758 +GARD:0019184,Orphanet,93400,ORPHA:93400,1,NEU1,,neuraminidase 1,gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:14695530, PMID:19568825]",608272,ENSG00000204386,,Q99519,Q99519,HGNC:7758 +GARD:0019219,Orphanet,93552,ORPHA:93552,3,SPP1,"[BSPI, ETA-1, Early T-lymphocyte activation 1, early T-lymphocyte activation 1]",secreted phosphoprotein 1,gene with protein product,4q22.1,Major susceptibility factor in,Not yet assessed,[PMID:24023622],166490,ENSG00000118785,,P10451,P10451,HGNC:11255 +GARD:0019219,Orphanet,93552,ORPHA:93552,3,STAT4,,signal transducer and activator of transcription 4,gene with protein product,2q32.2-q32.3,Major susceptibility factor in,Assessed,"[PMID:17804842, PMID:24023622]",600558,ENSG00000138378,,Q14765,Q14765,HGNC:11365 +GARD:0019219,Orphanet,93552,ORPHA:93552,3,IRAK1,"[IRAK, pelle]",interleukin 1 receptor associated kinase 1,gene with protein product,Xq28,Major susceptibility factor in,Assessed,[PMID:19329491],300283,ENSG00000184216,2042,P51617,P51617,HGNC:6112 +GARD:0019224,Orphanet,93560,ORPHA:93560,1,APOA1,,apolipoprotein A1,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19324996],107680,ENSG00000118137,,P02647,P02647,HGNC:600 +GARD:0019225,Orphanet,93561,ORPHA:93561,1,LYZ,[renal amyloidosis],lysozyme,gene with protein product,12q15,Disease-causing germline mutation(s) in,Assessed,"[PMID:11849445, PMID:12675840]",153450,ENSG00000090382,,P61626,P61626,HGNC:6740 +GARD:0019226,Orphanet,93562,ORPHA:93562,1,FGA,,fibrinogen alpha chain,gene with protein product,4q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:9389696],134820,ENSG00000171560,,P02671,P02671,HGNC:3661 +GARD:0019239,Orphanet,93945,ORPHA:93945,1,PQBP1,,polyglutamine binding protein 1,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,,300463,ENSG00000102103,,O60828,O60828,HGNC:9330 +GARD:0019240,Orphanet,93946,ORPHA:93946,1,PQBP1,,polyglutamine binding protein 1,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,,300463,ENSG00000102103,,O60828,O60828,HGNC:9330 +GARD:0019241,Orphanet,93947,ORPHA:93947,1,PQBP1,,polyglutamine binding protein 1,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,,300463,ENSG00000102103,,O60828,O60828,HGNC:9330 +GARD:0019242,Orphanet,93950,ORPHA:93950,1,PQBP1,,polyglutamine binding protein 1,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,,300463,ENSG00000102103,,O60828,O60828,HGNC:9330 +GARD:0019251,Orphanet,94125,ORPHA:94125,1,POLG,"[POLG1, POLGA]","DNA polymerase gamma, catalytic subunit",gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:15824347],174763,ENSG00000140521,,P54098,P54098,HGNC:9179 +GARD:0019340,Orphanet,96191,ORPHA:96191,2,HYMAI,"[NCRNA00020, non-protein coding RNA 20]",hydatidiform mole associated and imprinted,Non-coding RNA,6q24.2,Role in the phenotype of,Not yet assessed,,606546,ENSG00000283122,,,,HGNC:5326 +GARD:0019340,Orphanet,96191,ORPHA:96191,2,PLAGL1,"[LOT1, ZAC]",PLAG1 like zinc finger 1,gene with protein product,6q24.2,Role in the phenotype of,Not yet assessed,,603044,ENSG00000118495,,Q9UM63,Q9UM63,HGNC:9046 +GARD:0019354,Orphanet,97240,ORPHA:97240,1,ACTA1,"[NEM3, nemaline myopathy type 3]","actin alpha 1, skeletal muscle",gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,[PMID:25747004],102610,ENSG00000143632,,P68133,P68133,HGNC:129 +GARD:0019367,Orphanet,97338,ORPHA:97338,3,CREB1,,cAMP responsive element binding protein 1,gene with protein product,2q33.3,Part of a fusion gene in,Assessed,[PMID:19561568],123810,ENSG00000118260,,P16220,P16220,HGNC:2345 +GARD:0019367,Orphanet,97338,ORPHA:97338,3,ATF1,[TREB36],activating transcription factor 1,gene with protein product,12q13.12,Part of a fusion gene in,Assessed,[PMID:19561568],123803,ENSG00000123268,,P18846,P18846,HGNC:783 +GARD:0019367,Orphanet,97338,ORPHA:97338,3,EWSR1,[EWS],EWS RNA binding protein 1,gene with protein product,22q12.2,Part of a fusion gene in,Assessed,[PMID:19561568],133450,ENSG00000182944,,Q01844,Q01844,HGNC:3508 +GARD:0019374,Orphanet,97362,ORPHA:97362,2,PAX2,,paired box 2,gene with protein product,10q24.31,Major susceptibility factor in,Assessed,"[PMID:11461952, PMID:17513325, PMID:22138676, PMID:23539225]",167409,ENSG00000075891,,Q02962,,HGNC:8616 +GARD:0019374,Orphanet,97362,ORPHA:97362,2,PBX1,,PBX homeobox 1,gene with protein product,1q23.3,Role in the phenotype of,Assessed,[PMID:28270404],176310,ENSG00000185630,,P40424,P40424,HGNC:8632 +GARD:0019375,Orphanet,97363,ORPHA:97363,1,HNF1B,"[HNF1beta, HNF1ß, LFB3, MODY5, VHNF1, hepatocyte nuclear factor 1 beta]",HNF1 homeobox B,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:20155289, PMID:23725647]",189907,ENSG00000275410,,P35680,P35680,HGNC:11630 +GARD:0019577,Orphanet,98794,ORPHA:98794,2,OCA2,"[BEY, BEY1, BEY2, EYCL, P-protein, melanocyte-specific transporter protein]",OCA2 melanosomal transmembrane protein,gene with protein product,15q12-q13.1,Role in the phenotype of,Assessed,"[PMID:10905897, PMID:20301323]",611409,ENSG00000104044,,Q04671,Q04671,HGNC:8101 +GARD:0019577,Orphanet,98794,ORPHA:98794,2,UBE3A,"[ANCR, AS, Angelman syndrome, E6-AP, FLJ26981]",ubiquitin protein ligase E3A,gene with protein product,15q11.2,Role in the phenotype of,Assessed,"[PMID:20301323, PMID:22670133, PMID:24876791, PMID:25212744]",601623,ENSG00000114062,,Q05086,Q05086,HGNC:12496 +GARD:0019578,Orphanet,98795,ORPHA:98795,1,UBE3A,"[ANCR, AS, Angelman syndrome, E6-AP, FLJ26981]",ubiquitin protein ligase E3A,gene with protein product,15q11.2,Role in the phenotype of,Assessed,"[PMID:20301323, PMID:22670133, PMID:24876791, PMID:25212744]",601623,ENSG00000114062,,Q05086,Q05086,HGNC:12496 +GARD:0019583,Orphanet,98824,ORPHA:98824,1,CSF3R,[GCSFR],colony stimulating factor 3 receptor,gene with protein product,1p34.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:23656643],138971,ENSG00000119535,1719,Q99062,Q99062,HGNC:2439 +GARD:0019585,Orphanet,98826,ORPHA:98826,1,TET2,"[FLJ20032, ten-eleven translocation 2]",tet methylcytosine dioxygenase 2,gene with protein product,4q24,Disease-causing somatic mutation(s) in,Assessed,"[PMID:19483684, PMID:19557078]",612839,ENSG00000168769,,Q6N021,Q6N021,HGNC:25941 +GARD:0019586,Orphanet,98827,ORPHA:98827,1,GATA2,[NFE1B],GATA binding protein 2,gene with protein product,3q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21892162],137295,ENSG00000179348,,P23769,P23769,HGNC:4171 +GARD:0019587,Orphanet,98831,ORPHA:98831,1,KMT2A,"[ALL-1, CXXC7, HRX, HTRX1, Histone-lysine N-methyltransferase 2A, MLL1A, TRX1]",lysine methyltransferase 2A,gene with protein product,11q23.3,Role in the phenotype of,Assessed,,159555,ENSG00000118058,2688,Q03164,Q03164,HGNC:7132 +GARD:0019588,Orphanet,98832,ORPHA:98832,1,FLT3,"[CD135, FLK2, STK1]",fms related receptor tyrosine kinase 3,gene with protein product,13q12.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:22338050],136351,ENSG00000122025,1807,P36888,P36888,HGNC:3765 +GARD:0019589,Orphanet,98838,ORPHA:98838,2,BCL6,"[BCL5, BCL6A, LAZ3, ZBTB27]",BCL6 transcription repressor,gene with protein product,3q27.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:17116487],109565,ENSG00000113916,2957,P41182,P41182,HGNC:1001 +GARD:0019589,Orphanet,98838,ORPHA:98838,2,XPO1,"[CRM-1, CRM1, chromosome region maintenance 1 homolog (yeast), emb]",exportin 1,gene with protein product,2p15,Candidate gene tested in,Assessed,[PMID:27312795],602559,ENSG00000082898,3014,O14980,O14980,HGNC:12825 +GARD:0019590,Orphanet,98839,ORPHA:98839,2,BCL6,"[BCL5, BCL6A, LAZ3, ZBTB27]",BCL6 transcription repressor,gene with protein product,3q27.3,Disease-causing somatic mutation(s) in,Assessed,,109565,ENSG00000113916,2957,P41182,P41182,HGNC:1001 +GARD:0019590,Orphanet,98839,ORPHA:98839,2,BCL2,"[Bcl-2, PPP1R50, protein phosphatase 1, regulatory subunit 50]",BCL2 apoptosis regulator,gene with protein product,18q21.33,Biomarker tested in,Assessed,[PMID:19040469],151430,ENSG00000171791,2844,P10415,P10415,HGNC:990 +GARD:0019591,Orphanet,98843,ORPHA:98843,1,KLHDC8B,[MGC35097],kelch domain containing 8B,gene with protein product,3p21.31,Candidate gene tested in,Not yet assessed,[PMID:19706467],613169,ENSG00000185909,,Q8IXV7,,HGNC:28557 +GARD:0019596,Orphanet,98849,ORPHA:98849,4,TET2,"[FLJ20032, ten-eleven translocation 2]",tet methylcytosine dioxygenase 2,gene with protein product,4q24,Disease-causing somatic mutation(s) in,Assessed,[PMID:25567135],612839,ENSG00000168769,,Q6N021,Q6N021,HGNC:25941 +GARD:0019596,Orphanet,98849,ORPHA:98849,4,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing somatic mutation(s) in,Assessed,,164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0019596,Orphanet,98849,ORPHA:98849,4,ASXL1,[KIAA0978],ASXL transcriptional regulator 1,gene with protein product,20q11.21,Disease-causing somatic mutation(s) in,Assessed,[PMID:25567135],612990,ENSG00000171456,,Q8IXJ9,Q8IXJ9,HGNC:18318 +GARD:0019596,Orphanet,98849,ORPHA:98849,4,SRSF2,"[PR264, SC-35, SC35, SFRS2A, SR splicing factor 2]",serine and arginine rich splicing factor 2,gene with protein product,17q25.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:25567135],600813,ENSG00000161547,,Q01130,Q01130,HGNC:10783 +GARD:0019597,Orphanet,98850,ORPHA:98850,5,TET2,"[FLJ20032, ten-eleven translocation 2]",tet methylcytosine dioxygenase 2,gene with protein product,4q24,Disease-causing somatic mutation(s) in,Assessed,[PMID:19262599],612839,ENSG00000168769,,Q6N021,Q6N021,HGNC:25941 +GARD:0019597,Orphanet,98850,ORPHA:98850,5,ASXL1,[KIAA0978],ASXL transcriptional regulator 1,gene with protein product,20q11.21,Disease-causing somatic mutation(s) in,Assessed,[PMID:26464169],612990,ENSG00000171456,,Q8IXJ9,Q8IXJ9,HGNC:18318 +GARD:0019597,Orphanet,98850,ORPHA:98850,5,CBL,"[RNF55, c-Cbl, oncogene CBL2]",Cbl proto-oncogene,gene with protein product,11q23.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:22905207],165360,ENSG00000110395,,P22681,P22681,HGNC:1541 +GARD:0019597,Orphanet,98850,ORPHA:98850,5,RUNX1,"[AMLCR1, PEBP2A2, aml1 oncogene]",RUNX family transcription factor 1,gene with protein product,21q22.12,Disease-causing somatic mutation(s) in,Assessed,[PMID:26464169],151385,ENSG00000159216,,Q01196,Q01196,HGNC:10471 +GARD:0019597,Orphanet,98850,ORPHA:98850,5,SRSF2,"[PR264, SC-35, SC35, SFRS2A, SR splicing factor 2]",serine and arginine rich splicing factor 2,gene with protein product,17q25.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:26464169],600813,ENSG00000161547,,Q01130,Q01130,HGNC:10783 +GARD:0019604,Orphanet,98933,ORPHA:98933,1,COQ2,"[4-hydroxybenzoate polyprenyltransferase, CL640, FLJ26072]","coenzyme Q2, polyprenyltransferase",gene with protein product,4q21.23,Major susceptibility factor in,Assessed,[PMID:23758206],609825,ENSG00000173085,,Q96H96,Q96H96,HGNC:25223 +GARD:0019605,Orphanet,98946,ORPHA:98946,4,PAX6,"[AN, Aniridia 1, Aniridia 2, D11S812E, WAGR, aniridia, keratitis]",paired box 6,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:12721955, PMID:16604056]",607108,ENSG00000007372,,P26367,P26367,HGNC:8620 +GARD:0019605,Orphanet,98946,ORPHA:98946,4,SALL2,"[Hsal2, KIAA0360, ZNF795]",spalt like transcription factor 2,gene with protein product,14q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24412933],602219,ENSG00000165821,,Q9Y467,Q9Y467,HGNC:10526 +GARD:0019605,Orphanet,98946,ORPHA:98946,4,FZD5,"[DKFZP434E2135, HFZ5]",frizzled class receptor 5,gene with protein product,2q33.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26908622],601723,ENSG00000163251,233,Q13467,Q13467,HGNC:4043 +GARD:0019605,Orphanet,98946,ORPHA:98946,4,ABCB6,"[ATP-binding cassette half-transporter, EST45597, MTABC3, umat]",ATP binding cassette subfamily B member 6 (Langereis blood group),gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:22226084],605452,ENSG00000115657,773,Q9NP58,Q9NP58,HGNC:47 +GARD:0019610,Orphanet,98975,ORPHA:98975,1,OVOL2,"[CHED, HOVO2, bA504H3.3]",ovo like zinc finger 2,gene with protein product,20p11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:26749309],616441,ENSG00000125850,,Q9BRP0,,HGNC:15804 +GARD:0019612,Orphanet,99003,ORPHA:99003,1,PRPH2,"[CACD2, TSPAN22, rd2, retinal peripherin]",peripherin 2,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17504850],179605,ENSG00000112619,,P23942,,HGNC:9942 +GARD:0019614,Orphanet,99042,ORPHA:99042,1,CFC1,[CRYPTIC],"cripto, FRL-1, cryptic family 1",gene with protein product,2q21.1,Candidate gene tested in,Not yet assessed,[PMID:11799476],605194,ENSG00000136698,,P0CG37,P0CG37,HGNC:18292 +GARD:0019687,Orphanet,99771,ORPHA:99771,2,UBB,"[FLJ25987, MGC8385, polyubiquitin B]",ubiquitin B,gene with protein product,17p11.2,Candidate gene tested in,Not yet assessed,[PMID:17468296],191339,ENSG00000170315,,P0CG47,P0CG47,HGNC:12463 +GARD:0019687,Orphanet,99771,ORPHA:99771,2,GRHL3,"[SOM, sister-of-mammalian grainyhead]",grainyhead like transcription factor 3,gene with protein product,1p36.11,Major susceptibility factor in,Assessed,"[PMID:27018472, PMID:27018475]",608317,ENSG00000158055,,Q8TE85,Q8TE85,HGNC:25839 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,ZBTB16,"[PLZF, promyelocytic leukaemia zinc finger]",zinc finger and BTB domain containing 16,gene with protein product,11q23.2,Part of a fusion gene in,Assessed,[PMID:29279377],176797,ENSG00000109906,,Q05516,Q05516,HGNC:12930 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,TRG,"[T-cell antigen receptor, gamma polypeptide, T-cell rearranging gene, gamma, T-cell receptor, gamma cluster]",T-cell receptor gamma locus,gene with protein product,7p14,Candidate gene tested in,Not yet assessed,,,,,,,HGNC:12271 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,TRB,"[T-cell antigen receptor, beta polypeptide, T-cell receptor, beta cluster]",T-cell receptor beta locus,gene with protein product,7q34,Part of a fusion gene in,Assessed,,,,,P0DSE2; P0DTU4,P04435,HGNC:12155 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,CEP72,"[FLJ10565, KIAA1519]",centrosomal protein 72,gene with protein product,5p15.33,Candidate gene tested in,Not yet assessed,,616475,ENSG00000112877,,Q9P209,Q9P209,HGNC:25547 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,DDX3X,"[CAP-Rf, DBX, DDX14, HLP2, Helicase-like protein 2]",DEAD-box helicase 3 X-linked,gene with protein product,Xp11.4,Part of a fusion gene in,Assessed,[PMID:23673860],300160,ENSG00000215301,,O00571,O00571,HGNC:2745 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,SET,"[2PP2A, HLA-DR-associated protein II, IGAAD, IPP2A2, PHAPII, TAF-I, TAF-IBETA, Template-Activating Factor-I, Template-Activating Factor-I, chromatin remodelling factor, chromatin remodelling factor, inhibitor of granzyme A-activated DNase, protein phosphatase type 2A inhibitor]",SET nuclear proto-oncogene,gene with protein product,9q34.11,Part of a fusion gene in,Assessed,[PMID:29279377],600960,ENSG00000119335,,Q01105,Q01105,HGNC:10760 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,NUP214,"[CAIN, CAN, CAN protein, putative oncogene, D9S46E, N214, nuclear pore complex protein Nup214]",nucleoporin 214,gene with protein product,9q34.13,Part of a fusion gene in,Assessed,[PMID:29279377],114350,ENSG00000126883,,P35658,P35658,HGNC:8064 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,ABL1,"[JTK7, c-ABL, p150]","ABL proto-oncogene 1, non-receptor tyrosine kinase",gene with protein product,9q34.12,Part of a fusion gene in,Assessed,[PMID:29279377],189980,ENSG00000097007,1923,P00519,P00519,HGNC:76 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,TAL1,"[SCL, bHLHa17]","TAL bHLH transcription factor 1, erythroid differentiation factor",gene with protein product,1p33,Part of a fusion gene in,Assessed,,187040,ENSG00000162367,,P17542,P17542,HGNC:11556 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,TLX3,[RNX],T cell leukemia homeobox 3,gene with protein product,5q35.1,Part of a fusion gene in,Assessed,"[PMID:22516255, PMID:22516263]",604640,ENSG00000164438,,O43711,O43711,HGNC:13532 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,CNOT3,"[KIAA0691, LENG2, NOT3 (negative regulator of transcription 3, yeast) homolog, NOT3H]",CCR4-NOT transcription complex subunit 3,gene with protein product,19q13.42,Disease-causing somatic mutation(s) in,Not yet assessed,[PMID:23263491],604910,ENSG00000088038,,O75175,O75175,HGNC:7879 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,TRA,,T-cell receptor alpha locus,gene with protein product,14q11.2,Part of a fusion gene in,Assessed,[PMID:29279377],,,,P0DSE1,,HGNC:12027 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,TCL1A,[TCL1],TCL1 family AKT coactivator A,gene with protein product,14q32.13,Part of a fusion gene in,Assessed,,186960,ENSG00000100721,,P56279,P56279,HGNC:11648 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,STIL,[MCPH7],STIL centriolar assembly protein,gene with protein product,1p33,Part of a fusion gene in,Assessed,,181590,ENSG00000123473,,Q15468,Q15468,HGNC:10879 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,PICALM,"[CALM, CLTH]",phosphatidylinositol binding clathrin assembly protein,gene with protein product,11q14.2,Part of a fusion gene in,Assessed,,603025,ENSG00000073921,,Q13492,Q13492,HGNC:15514 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,MYB,[c-myb],"MYB proto-oncogene, transcription factor",gene with protein product,6q23.3,Part of a fusion gene in,Assessed,,189990,ENSG00000118513,,P10242,P10242,HGNC:7545 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,TLX1,"[Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch), homeo box 11 (T-cell lymphoma 3-associated breakpoint)]",T cell leukemia homeobox 1,gene with protein product,10q24.31,Part of a fusion gene in,Assessed,"[PMID:22516255, PMID:22516263]",186770,ENSG00000107807,,P31314,P31314,HGNC:5056 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,MLLT10,[AF10],MLLT10 histone lysine methyltransferase DOT1L cofactor,gene with protein product,10p12.31,Part of a fusion gene in,Assessed,[PMID:23673860],602409,ENSG00000078403,,P55197,P55197,HGNC:16063 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,HNRNPH1,[hnRNPH],heterogeneous nuclear ribonucleoprotein H1,gene with protein product,5q35.3,Part of a fusion gene in,Assessed,[PMID:23673860],601035,ENSG00000169045,,P31943,P31943,HGNC:5041 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,CDKN2A,"[ARF, CDK4I, CMM2, INK4, INK4a, MTS1, p14, p14ARF, p16, p16INK4a, p19, p19Arf]",cyclin dependent kinase inhibitor 2A,gene with protein product,9p21.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:18838613],600160,ENSG00000147889,,P42771,P42771,HGNC:1787 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,FLT3,"[CD135, FLK2, STK1]",fms related receptor tyrosine kinase 3,gene with protein product,13q12.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:16234090],136351,ENSG00000122025,1807,P36888,P36888,HGNC:3765 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,SALL2,"[Hsal2, KIAA0360, ZNF795]",spalt like transcription factor 2,gene with protein product,14q11.2,Part of a fusion gene in,Assessed,[PMID:29279377],602219,ENSG00000165821,,Q9Y467,Q9Y467,HGNC:10526 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,TRD,[TCRDV1],T-cell receptor delta locus,gene with protein product,14q11.2,Part of a fusion gene in,Assessed,,,,,,,HGNC:12252 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,NUDT15,"[FLJ10956, MTH2]",nudix hydrolase 15,gene with protein product,13q14.2,Candidate gene tested in,Not yet assessed,,615792,ENSG00000136159,,Q9NV35,Q9NV35,HGNC:23063 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,MYC,"[MYCC, bHLHe39, c-Myc]","MYC proto-oncogene, bHLH transcription factor",gene with protein product,8q24.21,Part of a fusion gene in,Assessed,,190080,ENSG00000136997,,P01106,P01106,HGNC:7553 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,CYP2C19,"[CPCJ, P450IIC19]",cytochrome P450 family 2 subfamily C member 19,gene with protein product,10q23.33,Candidate gene tested in,Not yet assessed,,124020,ENSG00000165841,1328,P33261,P33261,HGNC:2621 +GARD:0019694,Orphanet,99861,ORPHA:99861,27,BCR,"[ALL, CML, D22S662, PHL]",BCR activator of RhoGEF and GTPase,gene with protein product,22q11.23,Part of a fusion gene in,Assessed,,151410,ENSG00000186716,2755,P11274,P11274,HGNC:1014 +GARD:0019697,Orphanet,99887,ORPHA:99887,1,GATA1,"[ERYF1, GATA-1, NF-E1, NFE1, nuclear factor, erythroid 1]",GATA binding protein 1,gene with protein product,Xp11.23,Disease-causing somatic mutation(s) in,Assessed,[PMID:14636651],305371,ENSG00000102145,,P15976,P15976,HGNC:4170 +GARD:0019707,Orphanet,99915,ORPHA:99915,2,FOXL2,[BPES1],forkhead box L2,gene with protein product,3q22.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:19516027],605597,ENSG00000183770,,P58012,P58012,HGNC:1092 +GARD:0019707,Orphanet,99915,ORPHA:99915,2,DICER1,"[Dicer, HERNA, K12H4.8-LIKE, KIAA0928, dicer 1, double-stranded RNA-specific endoribonuclease]","dicer 1, ribonuclease III",gene with protein product,14q32.13,Major susceptibility factor in,Assessed,"[PMID:21205968, PMID:21266384, PMID:21501861, PMID:21882293, PMID:24761742]",606241,ENSG00000100697,,Q9UPY3,Q9UPY3,HGNC:17098 +GARD:0019720,Orphanet,99970,ORPHA:99970,3,MDM2,"[HDM2, MGC5370]",MDM2 proto-oncogene,gene with protein product,12q15,Role in the phenotype of,Assessed,,164785,ENSG00000135679,3136,Q00987,Q00987,HGNC:6973 +GARD:0019720,Orphanet,99970,ORPHA:99970,3,CDK4,[PSK-J3],cyclin dependent kinase 4,gene with protein product,12q14.1,Role in the phenotype of,Assessed,,123829,ENSG00000135446,1976,P11802,P11802,HGNC:1773 +GARD:0019720,Orphanet,99970,ORPHA:99970,3,HMGA2,"[BABL, LIPO]",high mobility group AT-hook 2,gene with protein product,12q14.3,Role in the phenotype of,Assessed,,600698,ENSG00000149948,,P52926,P52926,HGNC:5009 +GARD:0019721,Orphanet,99971,ORPHA:99971,3,MDM2,"[HDM2, MGC5370]",MDM2 proto-oncogene,gene with protein product,12q15,Role in the phenotype of,Assessed,,164785,ENSG00000135679,3136,Q00987,Q00987,HGNC:6973 +GARD:0019721,Orphanet,99971,ORPHA:99971,3,CDK4,[PSK-J3],cyclin dependent kinase 4,gene with protein product,12q14.1,Role in the phenotype of,Assessed,,123829,ENSG00000135446,1976,P11802,P11802,HGNC:1773 +GARD:0019721,Orphanet,99971,ORPHA:99971,3,HMGA2,"[BABL, LIPO]",high mobility group AT-hook 2,gene with protein product,12q14.3,Role in the phenotype of,Assessed,,600698,ENSG00000149948,,P52926,P52926,HGNC:5009 +GARD:0019724,Orphanet,99989,ORPHA:99989,1,KCNJ11,"[ATP-sensitive inward rectifier potassium channel 11, BIR, Kir6.2, beta-cell inward rectifier]",potassium inwardly rectifying channel subfamily J member 11,gene with protein product,11p15.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,,600937,ENSG00000187486,442,Q14654,Q14654,HGNC:6257 +GARD:0019737,Orphanet,100019,ORPHA:100019,1,TET2,"[FLJ20032, ten-eleven translocation 2]",tet methylcytosine dioxygenase 2,gene with protein product,4q24,Disease-causing somatic mutation(s) in,Assessed,"[PMID:19483684, PMID:19557078]",612839,ENSG00000168769,,Q6N021,Q6N021,HGNC:25941 +GARD:0019738,Orphanet,100020,ORPHA:100020,1,TET2,"[FLJ20032, ten-eleven translocation 2]",tet methylcytosine dioxygenase 2,gene with protein product,4q24,Disease-causing somatic mutation(s) in,Assessed,"[PMID:19483684, PMID:19557078]",612839,ENSG00000168769,,Q6N021,Q6N021,HGNC:25941 +GARD:0019750,Orphanet,100075,ORPHA:100075,2,DAXX,[DAP6],death domain associated protein,gene with protein product,6p21.32,Candidate gene tested in,Not yet assessed,[PMID:26026117],603186,ENSG00000204209,,Q9UER7,Q9UER7,HGNC:2681 +GARD:0019750,Orphanet,100075,ORPHA:100075,2,ATRX,"[RAD54 homolog (S. cerevisiae), XH2, XNP]",ATRX chromatin remodeler,gene with protein product,Xq21.1,Candidate gene tested in,Not yet assessed,[PMID:26026117],300032,ENSG00000085224,,P46100,P46100,HGNC:886 +GARD:0019769,Orphanet,100974,ORPHA:100974,1,TMEM185A,[FRAXF],transmembrane protein 185A,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:7874164],300031,ENSG00000269556,,Q8NFB2,,HGNC:17125 +GARD:0019774,Orphanet,101023,ORPHA:101023,2,UBB,"[FLJ25987, MGC8385, polyubiquitin B]",ubiquitin B,gene with protein product,17p11.2,Candidate gene tested in,Not yet assessed,[PMID:17468296],191339,ENSG00000170315,,P0CG47,P0CG47,HGNC:12463 +GARD:0019774,Orphanet,101023,ORPHA:101023,2,GRHL3,"[SOM, sister-of-mammalian grainyhead]",grainyhead like transcription factor 3,gene with protein product,1p36.11,Major susceptibility factor in,Assessed,"[PMID:27018472, PMID:27018475]",608317,ENSG00000158055,,Q8TE85,Q8TE85,HGNC:25839 +GARD:0019837,Orphanet,102724,ORPHA:102724,5,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Biomarker tested in,Assessed,"[PMID:23783394, PMID:24226631]",164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0019837,Orphanet,102724,ORPHA:102724,5,RUNX1,"[AMLCR1, PEBP2A2, aml1 oncogene]",RUNX family transcription factor 1,gene with protein product,21q22.12,Part of a fusion gene in,Assessed,[PMID:19357394],151385,ENSG00000159216,,Q01196,Q01196,HGNC:10471 +GARD:0019837,Orphanet,102724,ORPHA:102724,5,FLT3,"[CD135, FLK2, STK1]",fms related receptor tyrosine kinase 3,gene with protein product,13q12.2,Biomarker tested in,Assessed,[PMID:23783394],136351,ENSG00000122025,1807,P36888,P36888,HGNC:3765 +GARD:0019837,Orphanet,102724,ORPHA:102724,5,RUNX1T1,"[CDR, ETO, MTG8, ZMYND2]",RUNX1 partner transcriptional co-repressor 1,gene with protein product,8q21.3,Part of a fusion gene in,Assessed,[PMID:19357394],133435,ENSG00000079102,,Q06455,Q06455,HGNC:1535 +GARD:0019837,Orphanet,102724,ORPHA:102724,5,CEBPA,[C/EBP-alpha],CCAAT enhancer binding protein alpha,gene with protein product,19q13.11,Biomarker tested in,Assessed,,116897,ENSG00000245848,,P49715,P49715,HGNC:1833 +GARD:0019853,Orphanet,104077,ORPHA:104077,1,ACTG2,[ACTSG],"actin gamma 2, smooth muscle",gene with protein product,2p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24591628],102545,ENSG00000163017,,P63267,P63267,HGNC:145 +GARD:0019881,Orphanet,137608,ORPHA:137608,1,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing germline mutation(s) in,Assessed,[PMID:17392703],601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0019919,Orphanet,139512,ORPHA:139512,1,GJB3,"[CX31, connexin 31]",gap junction protein beta 3,gene with protein product,1p34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11309368],603324,ENSG00000188910,720,O75712,O75712,HGNC:4285 +GARD:0019976,Orphanet,155878,ORPHA:155878,2,UBB,"[FLJ25987, MGC8385, polyubiquitin B]",ubiquitin B,gene with protein product,17p11.2,Candidate gene tested in,Not yet assessed,[PMID:17468296],191339,ENSG00000170315,,P0CG47,P0CG47,HGNC:12463 +GARD:0019976,Orphanet,155878,ORPHA:155878,2,GRHL3,"[SOM, sister-of-mammalian grainyhead]",grainyhead like transcription factor 3,gene with protein product,1p36.11,Major susceptibility factor in,Assessed,"[PMID:27018472, PMID:27018475]",608317,ENSG00000158055,,Q8TE85,Q8TE85,HGNC:25839 +GARD:0020013,Orphanet,157769,ORPHA:157769,9,DNAH9,"[DNAL1, DYH9, Dnahc9, HL-20, HL20, KIAA0357]",dynein axonemal heavy chain 9,gene with protein product,17p12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30471718],603330,ENSG00000007174,,Q9NYC9,,HGNC:2953 +GARD:0020013,Orphanet,157769,ORPHA:157769,9,MMP21,,matrix metallopeptidase 21,gene with protein product,10q26.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26437029],608416,ENSG00000154485,1644,Q8N119,,HGNC:14357 +GARD:0020013,Orphanet,157769,ORPHA:157769,9,PKD1L1,"[PRO19563, polycystin-1L1]","polycystin 1 like 1, transient receptor potential channel interacting",gene with protein product,7p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27616478],609721,ENSG00000158683,,Q8TDX9,,HGNC:18053 +GARD:0020013,Orphanet,157769,ORPHA:157769,9,CFAP53,[FLJ32743],cilia and flagella associated protein 53,gene with protein product,18q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22577226],614759,ENSG00000172361,,Q96M91,Q96M91,HGNC:26530 +GARD:0020013,Orphanet,157769,ORPHA:157769,9,ZIC3,"[HTX, ZNF203]",Zic family member 3,gene with protein product,Xq26.3,Major susceptibility factor in,Not yet assessed,,300265,ENSG00000156925,,O60481,O60481,HGNC:12874 +GARD:0020013,Orphanet,157769,ORPHA:157769,9,LEFTY2,"[LEFTA, LEFTYA, transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)]",left-right determination factor 2,gene with protein product,1q42.12,Major susceptibility factor in,Not yet assessed,,601877,ENSG00000143768,,O00292,O00292,HGNC:3122 +GARD:0020013,Orphanet,157769,ORPHA:157769,9,NODAL,,nodal growth differentiation factor,gene with protein product,10q22.1,Candidate gene tested in,Not yet assessed,[PMID:9354794],601265,ENSG00000156574,,Q96S42,Q96S42,HGNC:7865 +GARD:0020013,Orphanet,157769,ORPHA:157769,9,CFC1,[CRYPTIC],"cripto, FRL-1, cryptic family 1",gene with protein product,2q21.1,Candidate gene tested in,Not yet assessed,[PMID:11062482],605194,ENSG00000136698,,P0CG37,P0CG37,HGNC:18292 +GARD:0020013,Orphanet,157769,ORPHA:157769,9,ACVR2B,[ActR-IIB],activin A receptor type 2B,gene with protein product,3p22.2,Major susceptibility factor in,Not yet assessed,,602730,ENSG00000114739,1792,Q13705,Q13705,HGNC:174 +GARD:0020014,Orphanet,157791,ORPHA:157791,4,TFE3,"[TFEA, bHLHe33, transcription factor E family, member A]",transcription factor binding to IGHM enhancer 3,gene with protein product,Xp11.23,Part of a fusion gene in,Assessed,[PMID:24986479],314310,ENSG00000068323,,P19532,P19532,HGNC:11752 +GARD:0020014,Orphanet,157791,ORPHA:157791,4,YAP1,[YAP65],Yes1 associated transcriptional regulator,gene with protein product,11q22.1,Part of a fusion gene in,Assessed,[PMID:24986479],606608,ENSG00000137693,,P46937,P46937,HGNC:16262 +GARD:0020014,Orphanet,157791,ORPHA:157791,4,CAMTA1,[KIAA0833],calmodulin binding transcription activator 1,gene with protein product,1p36.31-p36.23,Part of a fusion gene in,Assessed,[PMID:24986479],611501,ENSG00000171735,,Q9Y6Y1,,HGNC:18806 +GARD:0020014,Orphanet,157791,ORPHA:157791,4,WWTR1,"[DKFZp586I1419, TAZ, transcriptional coactivator with PDZ-binding motif]",WW domain containing transcription regulator 1,gene with protein product,3q25.1,Part of a fusion gene in,Assessed,[PMID:24986479],607392,ENSG00000018408,,Q9GZV5,Q9GZV5,HGNC:24042 +GARD:0020031,Orphanet,158673,ORPHA:158673,1,COL7A1,"[LC collagen, collagen VII, alpha-1 polypeptide]",collagen type VII alpha 1 chain,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,,120120,ENSG00000114270,,Q02388,Q02388,HGNC:2214 +GARD:0020032,Orphanet,158676,ORPHA:158676,1,COL7A1,"[LC collagen, collagen VII, alpha-1 polypeptide]",collagen type VII alpha 1 chain,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,,120120,ENSG00000114270,,Q02388,Q02388,HGNC:2214 +GARD:0020033,Orphanet,158766,ORPHA:158766,1,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,[PMID:11505412],164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0020034,Orphanet,158769,ORPHA:158769,1,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,[PMID:11505412],164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0020035,Orphanet,158772,ORPHA:158772,1,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,[PMID:11505412],164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0020036,Orphanet,158775,ORPHA:158775,1,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing somatic mutation(s) in,Assessed,,164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0020037,Orphanet,158778,ORPHA:158778,1,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing somatic mutation(s) in,Assessed,,164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0020052,Orphanet,163931,ORPHA:163931,2,IL36RN,"[FIL1, FIL1(DELTA), FIL1D, IL-1 related protein 3, IL-1F5, IL1HY1, IL1L1, IL1RP3, IL36RA, MGC29840, family of interleukin 1-delta, interleukin-1 HY1, interleukin-1 receptor antagonist homolog 1]",interleukin 36 receptor antagonist,gene with protein product,2q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23303454],605507,ENSG00000136695,,Q9UBH0,Q9UBH0,HGNC:15561 +GARD:0020052,Orphanet,163931,ORPHA:163931,2,AP1S3,[sigma1C],adaptor related protein complex 1 subunit sigma 3,gene with protein product,2q36.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24791904],615781,ENSG00000152056,,Q96PC3,Q96PC3,HGNC:18971 +GARD:0020070,Orphanet,166286,ORPHA:166286,1,GJB2,"[CX26, NSRD1, connexin 26]",gap junction protein beta 2,gene with protein product,13q12.11,Disease-causing somatic mutation(s) in,Assessed,"[PMID:22592158, PMID:25692760, PMID:26215685]",121011,ENSG00000165474,716,P29033,P29033,HGNC:4284 +GARD:0020103,Orphanet,168829,ORPHA:168829,1,BRCA1,"[BRCA1/BRCA2-containing complex, subunit 1, BRCC1, FANCS, Fanconi anemia, complementation group S, PPP1R53, RNF53, protein phosphatase 1, regulatory subunit 53]",BRCA1 DNA repair associated,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,[PMID:22006311],113705,ENSG00000012048,,P38398,P38398,HGNC:1100 +GARD:0020104,Orphanet,168940,ORPHA:168940,2,FIP1L1,"[DKFZp586K0717, FIP1]",factor interacting with PAPOLA and CPSF1,gene with protein product,4q12,Part of a fusion gene in,Assessed,"[PMID:16502585, PMID:17988989, PMID:22523564, PMID:24764730]",607686,ENSG00000145216,,Q6UN15,Q6UN15,HGNC:19124 +GARD:0020104,Orphanet,168940,ORPHA:168940,2,PDGFRA,"[CD140a, GAS9, PDGFR2]",platelet derived growth factor receptor alpha,gene with protein product,4q12,Part of a fusion gene in,Assessed,"[PMID:16502585, PMID:17988989, PMID:22523564, PMID:24764730]",173490,ENSG00000134853,1803,P16234,P16234,HGNC:8803 +GARD:0020106,Orphanet,168947,ORPHA:168947,1,PDGFRA,"[CD140a, GAS9, PDGFR2]",platelet derived growth factor receptor alpha,gene with protein product,4q12,Part of a fusion gene in,Assessed,[PMID:23489324],173490,ENSG00000134853,1803,P16234,P16234,HGNC:8803 +GARD:0020107,Orphanet,168950,ORPHA:168950,1,PDGFRB,"[CD140b, JTK12, PDGFR1]",platelet derived growth factor receptor beta,gene with protein product,5q32,Part of a fusion gene in,Assessed,[PMID:23489324],173410,ENSG00000113721,1804,P09619,P09619,HGNC:8804 +GARD:0020119,Orphanet,169615,ORPHA:169615,3,DLK1,"[Delta1, FA1, Pref-1, ZOG, pG2]",delta like non-canonical Notch ligand 1,gene with protein product,14q32.2,Role in the phenotype of,Assessed,[PMID:28324015],176290,ENSG00000185559,,P80370,P80370,HGNC:2907 +GARD:0020119,Orphanet,169615,ORPHA:169615,3,KISS1R,"[AXOR12, HOT7T175]",KISS1 receptor,gene with protein product,19p13.3,Candidate gene tested in,Not yet assessed,"[PMID:18272894, PMID:20631455]",604161,ENSG00000116014,266,Q969F8,Q969F8,HGNC:4510 +GARD:0020119,Orphanet,169615,ORPHA:169615,3,MKRN3,"[MGC88288, RNF63, ZFP127, zinc finger protein 127]",makorin ring finger protein 3,gene with protein product,15q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23738509],603856,ENSG00000179455,,Q13064,Q13064,HGNC:7114 +GARD:0020125,Orphanet,171703,ORPHA:171703,2,EOMES,"[T-box brain2, TBR2]",eomesodermin,gene with protein product,3p24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17353897],604615,ENSG00000163508,,O95936,,HGNC:3372 +GARD:0020125,Orphanet,171703,ORPHA:171703,2,DISC1,,DISC1 scaffold protein,gene with protein product,1q42.2,Candidate gene tested in,Not yet assessed,[PMID:21739582],605210,ENSG00000162946,,Q9NRI5,Q9NRI5,HGNC:2888 +GARD:0020126,Orphanet,171829,ORPHA:171829,1,SIM1,[bHLHe14],SIM bHLH transcription factor 1,gene with protein product,6q16.3,Role in the phenotype of,Assessed,[PMID:24038875],603128,ENSG00000112246,,P81133,,HGNC:10882 +GARD:0020138,Orphanet,177901,ORPHA:177901,6,SNRPN,"[HCERN3, RT-LI, SM protein N, SM-D, SMN, SNRNP-N, SNURF-SNRPN, small nuclear ribonucleoprotein N, tissue-specific splicing protein]",small nuclear ribonucleoprotein polypeptide N,gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:20301505],182279,ENSG00000128739,,P63162,P63162,HGNC:11164 +GARD:0020138,Orphanet,177901,ORPHA:177901,6,NDN,"[HsT16328, PWCR, Prader-Willi syndrome chromosome region]","necdin, MAGE family member",gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:20301505],602117,ENSG00000182636,,Q99608,Q99608,HGNC:7675 +GARD:0020138,Orphanet,177901,ORPHA:177901,6,OCA2,"[BEY, BEY1, BEY2, EYCL, P-protein, melanocyte-specific transporter protein]",OCA2 melanosomal transmembrane protein,gene with protein product,15q12-q13.1,Role in the phenotype of,Assessed,[PMID:20301505],611409,ENSG00000104044,,Q04671,Q04671,HGNC:8101 +GARD:0020138,Orphanet,177901,ORPHA:177901,6,SNORD116@,"[HBII-85, PET1]","small nucleolar RNA, C/D box 116 cluster",Non-coding RNA,15q11.2,Role in the phenotype of,Assessed,"[PMID:20301505, PMID:20588305, PMID:22694955]",605436,,,,,HGNC:32781 +GARD:0020138,Orphanet,177901,ORPHA:177901,6,MAGEL2,[nM15],MAGE family member L2,gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:20301505],605283,ENSG00000254585,,Q9UJ55,Q9UJ55,HGNC:6814 +GARD:0020138,Orphanet,177901,ORPHA:177901,6,SNORD115@,[HBII-52],"small nucleolar RNA, C/D box 115 cluster",Non-coding RNA,15q11.2,Role in the phenotype of,Assessed,"[PMID:20301505, PMID:22495932, PMID:28296064]",609837,,,,,HGNC:32780 +GARD:0020139,Orphanet,177904,ORPHA:177904,6,SNRPN,"[HCERN3, RT-LI, SM protein N, SM-D, SMN, SNRNP-N, SNURF-SNRPN, small nuclear ribonucleoprotein N, tissue-specific splicing protein]",small nuclear ribonucleoprotein polypeptide N,gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:20301505],182279,ENSG00000128739,,P63162,P63162,HGNC:11164 +GARD:0020139,Orphanet,177904,ORPHA:177904,6,NDN,"[HsT16328, PWCR, Prader-Willi syndrome chromosome region]","necdin, MAGE family member",gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:20301505],602117,ENSG00000182636,,Q99608,Q99608,HGNC:7675 +GARD:0020139,Orphanet,177904,ORPHA:177904,6,OCA2,"[BEY, BEY1, BEY2, EYCL, P-protein, melanocyte-specific transporter protein]",OCA2 melanosomal transmembrane protein,gene with protein product,15q12-q13.1,Role in the phenotype of,Assessed,[PMID:20301505],611409,ENSG00000104044,,Q04671,Q04671,HGNC:8101 +GARD:0020139,Orphanet,177904,ORPHA:177904,6,SNORD116@,"[HBII-85, PET1]","small nucleolar RNA, C/D box 116 cluster",Non-coding RNA,15q11.2,Role in the phenotype of,Assessed,"[PMID:20301505, PMID:20588305, PMID:22694955]",605436,,,,,HGNC:32781 +GARD:0020139,Orphanet,177904,ORPHA:177904,6,MAGEL2,[nM15],MAGE family member L2,gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:20301505],605283,ENSG00000254585,,Q9UJ55,Q9UJ55,HGNC:6814 +GARD:0020139,Orphanet,177904,ORPHA:177904,6,SNORD115@,[HBII-52],"small nucleolar RNA, C/D box 115 cluster",Non-coding RNA,15q11.2,Role in the phenotype of,Assessed,"[PMID:20301505, PMID:22495932, PMID:28296064]",609837,,,,,HGNC:32780 +GARD:0020147,Orphanet,178377,ORPHA:178377,1,LRP5,"[BMND1, EVR4, HBM, LR3, OPS, OPTA1, VBCH2]",LDL receptor related protein 5,gene with protein product,11q13.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:15940380],603506,ENSG00000162337,,O75197,O75197,HGNC:6697 +GARD:0020148,Orphanet,178396,ORPHA:178396,1,SERPINA1,"[A1A, A1AT, AAT, PI1, alpha-1 antitrypsin, alpha-1 proteinase inhibitor, alpha-1-antitrypsin, alpha1AT, anti-elastase, protease inhibitor 1, protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin]",serpin family A member 1,gene with protein product,14q32.13,Disease-causing germline mutation(s) in,Assessed,[PMID:19483159],107400,ENSG00000197249,,P01009,P01009,HGNC:8941 +GARD:0020334,Orphanet,199326,ORPHA:199326,1,KCNA1,"[HUK1, Kv1.1, MBK1, RBK1]",potassium voltage-gated channel subfamily A member 1,gene with protein product,12p13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:19307729],176260,ENSG00000111262,538,Q09470,Q09470,HGNC:6218 +GARD:0020335,Orphanet,199329,ORPHA:199329,1,DYSF,"[FER1L1, fer-1-like family member 1]",dysferlin,gene with protein product,2p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:19084402],603009,ENSG00000135636,,O75923,O75923,HGNC:3097 +GARD:0020343,Orphanet,206436,ORPHA:206436,2,GALC,[Krabbe disease],galactosylceramidase,gene with protein product,14q31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301416, PMID:23319190]",606890,ENSG00000054983,,P54803,P54803,HGNC:4115 +GARD:0020343,Orphanet,206436,ORPHA:206436,2,PSAP,"[saposin-A, saposin-B, saposin-C, saposin-D, variant Gaucher disease and variant metachromatic leukodystrophy]",prosaposin,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15773042, PMID:20301416]",176801,ENSG00000197746,,P07602,P07602,HGNC:9498 +GARD:0020344,Orphanet,206443,ORPHA:206443,1,GALC,[Krabbe disease],galactosylceramidase,gene with protein product,14q31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301416, PMID:23319190]",606890,ENSG00000054983,,P54803,P54803,HGNC:4115 +GARD:0020345,Orphanet,206448,ORPHA:206448,1,GALC,[Krabbe disease],galactosylceramidase,gene with protein product,14q31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301416, PMID:23319190]",606890,ENSG00000054983,,P54803,P54803,HGNC:4115 +GARD:0020350,Orphanet,206546,ORPHA:206546,1,DMD,"[BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, muscular dystrophy, Duchenne and Becker types]",dystrophin,gene with protein product,Xp21.2-p21.1,Disease-causing germline mutation(s) in,Assessed,,300377,ENSG00000198947,,P11532,P11532,HGNC:2928 +GARD:0020356,Orphanet,206599,ORPHA:206599,1,CAV3,"[LGMD1C, LQT9, M-caveolin, VIP-21, VIP21]",caveolin 3,gene with protein product,3p25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:10746614],601253,ENSG00000182533,,P56539,P56539,HGNC:1529 +GARD:0020441,Orphanet,209902,ORPHA:209902,1,CYP7A1,"[cholesterol 7 alpha-monooxygenase, cholesterol 7a-hydroxylase]",cytochrome P450 family 7 subfamily A member 1,gene with protein product,8q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12093894],118455,ENSG00000167910,1354,P22680,P22680,HGNC:2651 +GARD:0020466,Orphanet,213504,ORPHA:213504,1,INHBA,,inhibin subunit beta A,gene with protein product,7p14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24302632],147290,ENSG00000122641,,P08476,P08476,HGNC:6066 +GARD:0020468,Orphanet,213524,ORPHA:213524,2,BRCA1,"[BRCA1/BRCA2-containing complex, subunit 1, BRCC1, FANCS, Fanconi anemia, complementation group S, PPP1R53, RNF53, protein phosphatase 1, regulatory subunit 53]",BRCA1 DNA repair associated,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,[PMID:16112002],113705,ENSG00000012048,,P38398,P38398,HGNC:1100 +GARD:0020468,Orphanet,213524,ORPHA:213524,2,BRCA2,"[BRCA1/BRCA2-containing complex, subunit 2, BRCC2, FAD, FAD1, XRCC11]",BRCA2 DNA repair associated,gene with protein product,13q13.1,Major susceptibility factor in,Assessed,[PMID:16112002],600185,ENSG00000139618,,P51587,P51587,HGNC:1101 +GARD:0020502,Orphanet,216718,ORPHA:216718,4,ZIC3,"[HTX, ZNF203]",Zic family member 3,gene with protein product,Xq26.3,Major susceptibility factor in,Assessed,[PMID:23427188],300265,ENSG00000156925,,O60481,O60481,HGNC:12874 +GARD:0020502,Orphanet,216718,ORPHA:216718,4,GDF1,,growth differentiation factor 1,gene with protein product,19p13.11,Major susceptibility factor in,Not yet assessed,,602880,ENSG00000130283,,P27539,P27539,HGNC:4214 +GARD:0020502,Orphanet,216718,ORPHA:216718,4,CFC1,[CRYPTIC],"cripto, FRL-1, cryptic family 1",gene with protein product,2q21.1,Candidate gene tested in,Not yet assessed,[PMID:11799476],605194,ENSG00000136698,,P0CG37,P0CG37,HGNC:18292 +GARD:0020502,Orphanet,216718,ORPHA:216718,4,MED13L,"[KIAA1025, TRAP240L]",mediator complex subunit 13L,gene with protein product,12q24.21,Major susceptibility factor in,Not yet assessed,,608771,ENSG00000123066,,Q71F56,Q71F56,HGNC:22962 +GARD:0020503,Orphanet,216729,ORPHA:216729,1,CFC1,[CRYPTIC],"cripto, FRL-1, cryptic family 1",gene with protein product,2q21.1,Candidate gene tested in,Not yet assessed,[PMID:11799476],605194,ENSG00000136698,,P0CG37,P0CG37,HGNC:18292 +GARD:0020504,Orphanet,216972,ORPHA:216972,2,NPC1,[SLC65A1],NPC intracellular cholesterol transporter 1,gene with protein product,18q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301473],607623,ENSG00000141458,3051,O15118,O15118,HGNC:7897 +GARD:0020504,Orphanet,216972,ORPHA:216972,2,NPC2,"[EDDM1, HE1, NP-C2, epididymal protein 1]",NPC intracellular cholesterol transporter 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301473],601015,ENSG00000119655,,P61916,P61916,HGNC:14537 +GARD:0020505,Orphanet,216975,ORPHA:216975,2,NPC1,[SLC65A1],NPC intracellular cholesterol transporter 1,gene with protein product,18q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301473],607623,ENSG00000141458,3051,O15118,O15118,HGNC:7897 +GARD:0020505,Orphanet,216975,ORPHA:216975,2,NPC2,"[EDDM1, HE1, NP-C2, epididymal protein 1]",NPC intracellular cholesterol transporter 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301473],601015,ENSG00000119655,,P61916,P61916,HGNC:14537 +GARD:0020506,Orphanet,216978,ORPHA:216978,2,NPC1,[SLC65A1],NPC intracellular cholesterol transporter 1,gene with protein product,18q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301473],607623,ENSG00000141458,3051,O15118,O15118,HGNC:7897 +GARD:0020506,Orphanet,216978,ORPHA:216978,2,NPC2,"[EDDM1, HE1, NP-C2, epididymal protein 1]",NPC intracellular cholesterol transporter 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301473],601015,ENSG00000119655,,P61916,P61916,HGNC:14537 +GARD:0020507,Orphanet,216981,ORPHA:216981,2,NPC1,[SLC65A1],NPC intracellular cholesterol transporter 1,gene with protein product,18q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301473],607623,ENSG00000141458,3051,O15118,O15118,HGNC:7897 +GARD:0020507,Orphanet,216981,ORPHA:216981,2,NPC2,"[EDDM1, HE1, NP-C2, epididymal protein 1]",NPC intracellular cholesterol transporter 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301473],601015,ENSG00000119655,,P61916,P61916,HGNC:14537 +GARD:0020508,Orphanet,216986,ORPHA:216986,2,NPC1,[SLC65A1],NPC intracellular cholesterol transporter 1,gene with protein product,18q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301473],607623,ENSG00000141458,3051,O15118,O15118,HGNC:7897 +GARD:0020508,Orphanet,216986,ORPHA:216986,2,NPC2,"[EDDM1, HE1, NP-C2, epididymal protein 1]",NPC intracellular cholesterol transporter 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301473],601015,ENSG00000119655,,P61916,P61916,HGNC:14537 +GARD:0020562,Orphanet,226307,ORPHA:226307,5,PROP1,,PROP paired-like homeobox 1,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20537182, PMID:22851492]",601538,ENSG00000175325,,O75360,O75360,HGNC:9455 +GARD:0020562,Orphanet,226307,ORPHA:226307,5,HESX1,"[ANF, RPX]",HESX homeobox 1,gene with protein product,3p14.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20537182, PMID:22851492]",601802,ENSG00000163666,,Q9UBX0,Q9UBX0,HGNC:4877 +GARD:0020562,Orphanet,226307,ORPHA:226307,5,POU1F1,"[GHF-1, PIT-1, POU1F1a, growth hormone factor 1, pituitary transcript factor 1]",POU class 1 homeobox 1,gene with protein product,3p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20537182, PMID:22851492]",173110,ENSG00000064835,,P28069,,HGNC:9210 +GARD:0020562,Orphanet,226307,ORPHA:226307,5,LHX3,,LIM homeobox 3,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20537182, PMID:22851492]",600577,ENSG00000107187,,Q9UBR4,,HGNC:6595 +GARD:0020562,Orphanet,226307,ORPHA:226307,5,LHX4,[Gsh4],LIM homeobox 4,gene with protein product,1q25.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20537182, PMID:22851492]",602146,ENSG00000121454,,Q969G2,Q969G2,HGNC:21734 +GARD:0020564,Orphanet,226316,ORPHA:226316,1,DUOX2,"[LNOX2, NADH/NADPH thyroid oxidase p138-tox, NADPH oxidase/peroxidase DUOX2, NADPH thyroid oxidase 2, P138(TOX), P138-TOX, THOX2, dual oxidase-like domains 2, flavoprotein NADPH oxidase, nicotinamide adenine dinucleotide phosphate oxidase]",dual oxidase 2,gene with protein product,15q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25248169],606759,ENSG00000140279,2999,Q9NRD8,Q9NRD8,HGNC:13273 +GARD:0020565,Orphanet,227510,ORPHA:227510,1,COQ2,"[4-hydroxybenzoate polyprenyltransferase, CL640, FLJ26072]","coenzyme Q2, polyprenyltransferase",gene with protein product,4q21.23,Major susceptibility factor in,Assessed,[PMID:23758206],609825,ENSG00000173085,,Q96H96,Q96H96,HGNC:25223 +GARD:0020594,Orphanet,228410,ORPHA:228410,1,TAB2,"[KIAA0733, TAK1 binding protein 2]",TGF-beta activated kinase 1 (MAP3K7) binding protein 2,gene with protein product,6q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28386937],605101,ENSG00000055208,,Q9NYJ8,Q9NYJ8,HGNC:17075 +GARD:0020594,Orphanet,228410,ORPHA:228410,1,TAB2,"[KIAA0733, TAK1 binding protein 2]",TGF-beta activated kinase 1 (MAP3K7) binding protein 2,gene with protein product,6q25.1,Role in the phenotype of,Assessed,[PMID:28386937],605101,ENSG00000055208,,Q9NYJ8,Q9NYJ8,HGNC:17075 +GARD:0020595,Orphanet,228415,ORPHA:228415,1,NSD1,"[ARA267, FLJ22263, KMT3B]",nuclear receptor binding SET domain protein 1,gene with protein product,5q35.3,Role in the phenotype of,Assessed,[PMID:24819041],606681,ENSG00000165671,2696,Q96L73,Q96L73,HGNC:14234 +GARD:0020600,Orphanet,231117,ORPHA:231117,3,IGF2,"[FLJ44734, IGF-II, preptin, somatomedin A]",insulin like growth factor 2,gene with protein product,11p15.5,Role in the phenotype of,Assessed,"[PMID:20301568, PMID:20803657, PMID:21863054]",147470,ENSG00000167244,,P01344,P01344,HGNC:5466 +GARD:0020600,Orphanet,231117,ORPHA:231117,3,H19,"[ASM, ASM1, D11S813E, LINC00008, MIR675 host gene, MIR675HG, NCRNA00008, adult skeletal muscle, long intergenic non-protein coding RNA 8, non-protein coding RNA 8]",H19 imprinted maternally expressed transcript,Non-coding RNA,11p15.5,Role in the phenotype of,Assessed,"[PMID:20301568, PMID:20803657, PMID:21863054]",103280,ENSG00000130600,,,,HGNC:4713 +GARD:0020600,Orphanet,231117,ORPHA:231117,3,KCNQ1OT1,"[KCNQ1 antisense RNA 2 (non-protein coding), KCNQ1 overlapping transcript 1 (non-protein coding), KCNQ1-AS2, KvDMR1, KvLQT1-AS, LIT1, NCRNA00012, non-protein coding RNA 12]",KCNQ1 opposite strand/antisense transcript 1,Non-coding RNA,11p15.5,Role in the phenotype of,Assessed,"[PMID:12019213, PMID:20301568, PMID:20803657]",604115,ENSG00000269821,,,,HGNC:6295 +GARD:0020601,Orphanet,231127,ORPHA:231127,1,H19,"[ASM, ASM1, D11S813E, LINC00008, MIR675 host gene, MIR675HG, NCRNA00008, adult skeletal muscle, long intergenic non-protein coding RNA 8, non-protein coding RNA 8]",H19 imprinted maternally expressed transcript,Non-coding RNA,11p15.5,Role in the phenotype of,Assessed,[PMID:15314640],103280,ENSG00000130600,,,,HGNC:4713 +GARD:0020604,Orphanet,231140,ORPHA:231140,2,H19,"[ASM, ASM1, D11S813E, LINC00008, MIR675 host gene, MIR675HG, NCRNA00008, adult skeletal muscle, long intergenic non-protein coding RNA 8, non-protein coding RNA 8]",H19 imprinted maternally expressed transcript,Non-coding RNA,11p15.5,Role in the phenotype of,Assessed,[PMID:19675668],103280,ENSG00000130600,,,,HGNC:4713 +GARD:0020604,Orphanet,231140,ORPHA:231140,2,IGF2,"[FLJ44734, IGF-II, preptin, somatomedin A]",insulin like growth factor 2,gene with protein product,11p15.5,Role in the phenotype of,Assessed,[PMID:33236057],147470,ENSG00000167244,,P01344,P01344,HGNC:5466 +GARD:0020605,Orphanet,231144,ORPHA:231144,2,IGF2,"[FLJ44734, IGF-II, preptin, somatomedin A]",insulin like growth factor 2,gene with protein product,11p15.5,Role in the phenotype of,Assessed,[PMID:20503324],147470,ENSG00000167244,,P01344,P01344,HGNC:5466 +GARD:0020605,Orphanet,231144,ORPHA:231144,2,H19,"[ASM, ASM1, D11S813E, LINC00008, MIR675 host gene, MIR675HG, NCRNA00008, adult skeletal muscle, long intergenic non-protein coding RNA 8, non-protein coding RNA 8]",H19 imprinted maternally expressed transcript,Non-coding RNA,11p15.5,Role in the phenotype of,Assessed,[PMID:28592837],103280,ENSG00000130600,,,,HGNC:4713 +GARD:0020608,Orphanet,231242,ORPHA:231242,1,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:21886666],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0020609,Orphanet,231249,ORPHA:231249,1,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:21886666],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0020631,Orphanet,238269,ORPHA:238269,1,APOA2,,apolipoprotein A2,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11401442],107670,ENSG00000158874,,P02652,P02652,HGNC:601 +GARD:0020647,Orphanet,240094,ORPHA:240094,1,MAPT,"[FLJ31424, FTDP-17, G protein beta1/gamma2 subunit-interacting factor 1, MGC138549, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, microtubule-associated protein tau, isoform 4, protein phosphatase 1, regulatory subunit 103, tau, tau-40]",microtubule associated protein tau,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,,157140,ENSG00000186868,,P10636,P10636,HGNC:6893 +GARD:0020648,Orphanet,240103,ORPHA:240103,1,MAPT,"[FLJ31424, FTDP-17, G protein beta1/gamma2 subunit-interacting factor 1, MGC138549, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, microtubule-associated protein tau, isoform 4, protein phosphatase 1, regulatory subunit 103, tau, tau-40]",microtubule associated protein tau,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,,157140,ENSG00000186868,,P10636,P10636,HGNC:6893 +GARD:0020649,Orphanet,240112,ORPHA:240112,1,MAPT,"[FLJ31424, FTDP-17, G protein beta1/gamma2 subunit-interacting factor 1, MGC138549, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, microtubule-associated protein tau, isoform 4, protein phosphatase 1, regulatory subunit 103, tau, tau-40]",microtubule associated protein tau,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,,157140,ENSG00000186868,,P10636,P10636,HGNC:6893 +GARD:0020651,Orphanet,244275,ORPHA:244275,2,CFI,"[C3b-INA, C3b-inactivator, FI, KAF, Konglutinogen-activating factor]",complement factor I,gene with protein product,4q25,Biomarker tested in,Assessed,,217030,ENSG00000205403,,P05156,P05156,HGNC:5394 +GARD:0020651,Orphanet,244275,ORPHA:244275,2,CFH,"[ARMD4, ARMS1, FHL1, H factor 2 (complement), HUS, age-related maculopathy susceptibility 1, beta-1H]",complement factor H,gene with protein product,1q31.3,Biomarker tested in,Assessed,,134370,ENSG00000000971,,P08603,P08603,HGNC:4883 +GARD:0020652,Orphanet,244283,ORPHA:244283,1,CFC1,[CRYPTIC],"cripto, FRL-1, cryptic family 1",gene with protein product,2q21.1,Candidate gene tested in,Not yet assessed,[PMID:18162845],605194,ENSG00000136698,,P0CG37,P0CG37,HGNC:18292 +GARD:0020658,Orphanet,247378,ORPHA:247378,1,BPGM,,bisphosphoglycerate mutase,gene with protein product,7q33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:34440325],613896,ENSG00000172331,,P07738,P07738,HGNC:1093 +GARD:0020659,Orphanet,247546,ORPHA:247546,1,ASS1,[CTLN1],argininosuccinate synthase 1,gene with protein product,9q34.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301631],603470,ENSG00000130707,,P00966,P00966,HGNC:758 +GARD:0020660,Orphanet,247573,ORPHA:247573,1,ASS1,[CTLN1],argininosuccinate synthase 1,gene with protein product,9q34.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301631],603470,ENSG00000130707,,P00966,P00966,HGNC:758 +GARD:0020662,Orphanet,247638,ORPHA:247638,1,ALPL,"[TNALP, TNAP, TNSALP, tissue non-specific alkaline phosphatase]","alkaline phosphatase, biomineralization associated",gene with protein product,1p36.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10737975, PMID:17916236, PMID:20301329]",171760,ENSG00000162551,,P05186,P05186,HGNC:438 +GARD:0020666,Orphanet,247815,ORPHA:247815,1,PEX10,[RNF69],peroxisomal biogenesis factor 10,gene with protein product,1p36.32,Disease-causing germline mutation(s) in,Assessed,[PMID:20695019],602859,ENSG00000157911,,O60683,O60683,HGNC:8851 +GARD:0020674,Orphanet,248340,ORPHA:248340,1,FLI1,"[EWSR2, SIC-1]","Fli-1 proto-oncogene, ETS transcription factor",gene with protein product,11q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24100448],193067,ENSG00000151702,,Q01543,Q01543,HGNC:3749 +GARD:0020687,Orphanet,250972,ORPHA:250972,1,TUBA8,,tubulin alpha 8,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:19896110],605742,ENSG00000183785,,Q9NY65,Q9NY65,HGNC:12410 +GARD:0020692,Orphanet,251061,ORPHA:251061,1,FOXP2,"[CAG repeat protein 44, CAGH44, forkhead/winged-helix transcription factor, speech and language disorder 1, trinucleotide repeat containing 10]",forkhead box P2,gene with protein product,7q31.1,Role in the phenotype of,Assessed,"[PMID:17330859, PMID:22144704]",605317,ENSG00000128573,,O15409,O15409,HGNC:13875 +GARD:0020693,Orphanet,251066,ORPHA:251066,1,ANK1,[SPH1],ankyrin 1,gene with protein product,8p11.21,Role in the phenotype of,Assessed,[PMID:22771917],612641,ENSG00000029534,,P16157,P16157,HGNC:492 +GARD:0020700,Orphanet,251375,ORPHA:251375,1,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:20301551],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0020705,Orphanet,251579,ORPHA:251579,12,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Biomarker tested in,Assessed,[PMID:17785346],191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0020705,Orphanet,251579,ORPHA:251579,12,NFKBIA,"[IKBA, IkappaBalpha, MAD-3, NF-kappa-B inhibitor alpha]",NFKB inhibitor alpha,gene with protein product,14q13.2,Biomarker tested in,Assessed,[PMID:25215581],164008,ENSG00000100906,,P25963,P25963,HGNC:7797 +GARD:0020705,Orphanet,251579,ORPHA:251579,12,EGFR,"[ERBB1, ERRP, erb-b2 receptor tyrosine kinase 1, erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)]",epidermal growth factor receptor,gene with protein product,7p11.2,Part of a fusion gene in,Assessed,"[PMID:24071942, PMID:24075187]",131550,ENSG00000146648,1797,P00533,P00533,HGNC:3236 +GARD:0020705,Orphanet,251579,ORPHA:251579,12,TACC3,"[ERIC-1, ERIC1, Tacc4, maskin]",transforming acidic coiled-coil containing protein 3,gene with protein product,4p16.3,Part of a fusion gene in,Assessed,[PMID:22837387],605303,ENSG00000013810,,Q9Y6A5,,HGNC:11524 +GARD:0020705,Orphanet,251579,ORPHA:251579,12,IDH1,,isocitrate dehydrogenase (NADP(+)) 1,gene with protein product,2q34,Biomarker tested in,Assessed,[PMID:18772396],147700,ENSG00000138413,2884,O75874,O75874,HGNC:5382 +GARD:0020705,Orphanet,251579,ORPHA:251579,12,MGMT,[methylated-DNA--protein-cysteine methyltransferase],O-6-methylguanine-DNA methyltransferase,gene with protein product,10q26.3,Biomarker tested in,Assessed,"[PMID:20556478, PMID:22380407]",156569,ENSG00000170430,,P16455,P16455,HGNC:7059 +GARD:0020705,Orphanet,251579,ORPHA:251579,12,SEPTIN14,[FLJ44060],septin 14,gene with protein product,7p11.2,Part of a fusion gene in,Assessed,"[PMID:24071942, PMID:24075187]",612140,ENSG00000154997,,Q6ZU15,,HGNC:33280 +GARD:0020705,Orphanet,251579,ORPHA:251579,12,FGFR3,"[CD333, CEK2, JTK4]",fibroblast growth factor receptor 3,gene with protein product,4p16.3,Part of a fusion gene in,Assessed,[PMID:22837387],134934,ENSG00000068078,1810,P22607,P22607,HGNC:3690 +GARD:0020705,Orphanet,251579,ORPHA:251579,12,LZTR1,"[BTBD29, LZTR-1]",leucine zipper like transcription regulator 1,gene with protein product,22q11.21,Disease-causing somatic mutation(s) in,Assessed,"[PMID:24071842, PMID:24075187]",600574,ENSG00000099949,,Q8N653,,HGNC:6742 +GARD:0020705,Orphanet,251579,ORPHA:251579,12,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Part of a fusion gene in,Assessed,[PMID:22837387],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0020705,Orphanet,251579,ORPHA:251579,12,PPARG,"[NR1C3, PPARG1, PPARG2, PPARgamma]",peroxisome proliferator activated receptor gamma,gene with protein product,3p25.2,Biomarker tested in,Assessed,[PMID:10851250],601487,ENSG00000132170,595,P37231,P37231,HGNC:9236 +GARD:0020705,Orphanet,251579,ORPHA:251579,12,TACC1,,transforming acidic coiled-coil containing protein 1,gene with protein product,8p11.22,Part of a fusion gene in,Assessed,[PMID:22837387],605301,ENSG00000147526,,O75410,,HGNC:11522 +GARD:0020707,Orphanet,251598,ORPHA:251598,1,IDH2,,isocitrate dehydrogenase (NADP(+)) 2,gene with protein product,15q26.1,Biomarker tested in,Assessed,"[PMID:19228619, PMID:19554337, PMID:20714900, PMID:21075857, PMID:23109653, PMID:24149775]",147650,ENSG00000182054,2885,P48735,P48735,HGNC:5383 +GARD:0020708,Orphanet,251601,ORPHA:251601,1,IDH2,,isocitrate dehydrogenase (NADP(+)) 2,gene with protein product,15q26.1,Biomarker tested in,Assessed,"[PMID:19228619, PMID:19554337, PMID:20714900, PMID:21075857, PMID:23109653, PMID:24149775]",147650,ENSG00000182054,2885,P48735,P48735,HGNC:5383 +GARD:0020709,Orphanet,251604,ORPHA:251604,1,IDH2,,isocitrate dehydrogenase (NADP(+)) 2,gene with protein product,15q26.1,Biomarker tested in,Assessed,"[PMID:19228619, PMID:19554337, PMID:20714900, PMID:21075857, PMID:23109653, PMID:24149775]",147650,ENSG00000182054,2885,P48735,P48735,HGNC:5383 +GARD:0020710,Orphanet,251615,ORPHA:251615,7,SRGAP3,"[ARHGAP14, KIAA0411, MEGAP, WRP]",SLIT-ROBO Rho GTPase activating protein 3,gene with protein product,3p25.3,Part of a fusion gene in,Assessed,"[PMID:19363522, PMID:22159586]",606525,ENSG00000196220,,O43295,O43295,HGNC:19744 +GARD:0020710,Orphanet,251615,ORPHA:251615,7,KRAS,"[K-Ras4B, KRAS1]","KRAS proto-oncogene, GTPase",gene with protein product,12p12.1,Disease-causing somatic mutation(s) in,Assessed,"[PMID:17712732, PMID:19373855, PMID:21424530, PMID:22159586]",190070,ENSG00000133703,2824,P01116,P01116,HGNC:6407 +GARD:0020710,Orphanet,251615,ORPHA:251615,7,KIAA1549,,KIAA1549,gene with protein product,7q34,Part of a fusion gene in,Assessed,"[PMID:18974108, PMID:22159586]",613344,ENSG00000122778,,Q9HCM3,Q9HCM3,HGNC:22219 +GARD:0020710,Orphanet,251615,ORPHA:251615,7,RAF1,"[C-Raf proto-oncogene, serine/threonine kinase, CRAF, Raf-1, c-Raf]","Raf-1 proto-oncogene, serine/threonine kinase",gene with protein product,3p25.2,Part of a fusion gene in,Assessed,"[PMID:19363522, PMID:22159586]",164760,ENSG00000132155,2184,P04049,P04049,HGNC:9829 +GARD:0020710,Orphanet,251615,ORPHA:251615,7,NTRK2,"[BDNF/NT-3 growth factors receptor, TRKB]",neurotrophic receptor tyrosine kinase 2,gene with protein product,9q21.33,Part of a fusion gene in,Assessed,[PMID:23817572],600456,ENSG00000148053,1818,Q16620,Q16620,HGNC:8032 +GARD:0020710,Orphanet,251615,ORPHA:251615,7,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Disease-causing somatic mutation(s) in,Assessed,[PMID:23817572],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0020710,Orphanet,251615,ORPHA:251615,7,BRAF,[BRAF1],"B-Raf proto-oncogene, serine/threonine kinase",gene with protein product,7q34,Disease-causing somatic mutation(s) in,Assessed,"[PMID:21190184, PMID:22159586]",164757,ENSG00000157764,1943,P15056,P15056,HGNC:1097 +GARD:0020710,Orphanet,251615,ORPHA:251615,7,BRAF,[BRAF1],"B-Raf proto-oncogene, serine/threonine kinase",gene with protein product,7q34,Part of a fusion gene in,Assessed,"[PMID:18974108, PMID:22159586]",164757,ENSG00000157764,1943,P15056,P15056,HGNC:1097 +GARD:0020714,Orphanet,251671,ORPHA:251671,2,QKI,[QK3],"QKI, KH domain containing RNA binding",gene with protein product,6q26,Part of a fusion gene in,Assessed,[PMID:26829751],609590,ENSG00000112531,,Q96PU8,Q96PU8,HGNC:21100 +GARD:0020714,Orphanet,251671,ORPHA:251671,2,MYB,[c-myb],"MYB proto-oncogene, transcription factor",gene with protein product,6q23.3,Part of a fusion gene in,Assessed,[PMID:26829751],189990,ENSG00000118513,,P10242,P10242,HGNC:7545 +GARD:0020741,Orphanet,252128,ORPHA:252128,2,HTRA1,"[ARMD7, HtrA, IGFBP5-protease]",HtrA serine peptidase 1,gene with protein product,10q26.13,Part of a fusion gene in,Assessed,[PMID:27723760],602194,ENSG00000166033,3194,Q92743,Q92743,HGNC:9476 +GARD:0020741,Orphanet,252128,ORPHA:252128,2,SH3PXD2A,"[FISH, KIAA0418, five SH3 domains]",SH3 and PX domains 2A,gene with protein product,10q24.33,Part of a fusion gene in,Assessed,[PMID:27723760],619455,ENSG00000107957,,Q5TCZ1,Q5TCZ1,HGNC:23664 +GARD:0020743,Orphanet,252212,ORPHA:252212,2,HTRA1,"[ARMD7, HtrA, IGFBP5-protease]",HtrA serine peptidase 1,gene with protein product,10q26.13,Part of a fusion gene in,Assessed,[PMID:27723760],602194,ENSG00000166033,3194,Q92743,Q92743,HGNC:9476 +GARD:0020743,Orphanet,252212,ORPHA:252212,2,SH3PXD2A,"[FISH, KIAA0418, five SH3 domains]",SH3 and PX domains 2A,gene with protein product,10q24.33,Part of a fusion gene in,Assessed,[PMID:27723760],619455,ENSG00000107957,,Q5TCZ1,Q5TCZ1,HGNC:23664 +GARD:0020749,Orphanet,254693,ORPHA:254693,2,NLRP7,"[CLR19.4, NOD12, PAN7, PYPAF3, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7]",NLR family pyrin domain containing 7,gene with protein product,19q13.42,Disease-causing germline mutation(s) in,Assessed,"[PMID:19246479, PMID:24533231]",609661,ENSG00000167634,1774,Q8WX94,,HGNC:22947 +GARD:0020749,Orphanet,254693,ORPHA:254693,2,KHDC3L,"[ECAT1, ES cell associated transcript 1]","KH domain containing 3 like, subcortical maternal complex member",gene with protein product,6q13,Disease-causing germline mutation(s) in,Assessed,[PMID:24533231],611687,ENSG00000203908,,Q587J8,,HGNC:33699 +GARD:0020751,Orphanet,254704,ORPHA:254704,1,FTL,"[L apoferritin, MGC71996, NBIA3, ferritin L subunit, ferritin L-chain, ferritin light polypeptide-like 3, neurodegeneration with brain iron accumulation 3]",ferritin light chain,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:19176363],134790,ENSG00000087086,,P02792,P02792,HGNC:3999 +GARD:0020771,Orphanet,261144,ORPHA:261144,1,FOXG1,"[BF1, HBF-3, HFK1, HFK2, HFK3, QIN, brain factor 1]",forkhead box G1,gene with protein product,14q12,Role in the phenotype of,Assessed,[PMID:23895774],164874,ENSG00000176165,,P55316,,HGNC:3811 +GARD:0020773,Orphanet,261229,ORPHA:261229,1,FOXG1,"[BF1, HBF-3, HFK1, HFK2, HFK3, QIN, brain factor 1]",forkhead box G1,gene with protein product,14q12,Role in the phenotype of,Not yet assessed,,164874,ENSG00000176165,,P55316,,HGNC:3811 +GARD:0020776,Orphanet,261257,ORPHA:261257,1,YWHAE,"[14-3-3 epsilon, FLJ45465]",tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon,gene with protein product,17p13.3,Role in the phenotype of,Assessed,[PMID:20599530],605066,ENSG00000108953,,P62258,P62258,HGNC:12851 +GARD:0020779,Orphanet,261323,ORPHA:261323,1,KIF15,"[HKLP2, NY-BR-62]",kinesin family member 15,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:27549381, PMID:28150392]",617569,ENSG00000163808,,Q9NS87,Q9NS87,HGNC:17273 +GARD:0020786,Orphanet,261584,ORPHA:261584,1,APC,"[DP2, DP2.5, DP3, PPP1R46, protein phosphatase 1, regulatory subunit 46]",APC regulator of WNT signaling pathway,gene with protein product,5q22.2,Role in the phenotype of,Assessed,[PMID:20301519],611731,ENSG00000134982,,P25054,P25054,HGNC:583 +GARD:0020787,Orphanet,261638,ORPHA:261638,1,SALL4,"[ZNF797, dJ1112F19.1]",spalt like transcription factor 4,gene with protein product,20q13.2,Role in the phenotype of,Assessed,"[PMID:16086360, PMID:20301547]",607343,ENSG00000101115,,Q9UJQ4,Q9UJQ4,HGNC:15924 +GARD:0020788,Orphanet,261647,ORPHA:261647,1,SALL4,"[ZNF797, dJ1112F19.1]",spalt like transcription factor 4,gene with protein product,20q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:16086360, PMID:20301547]",607343,ENSG00000101115,,Q9UJQ4,Q9UJQ4,HGNC:15924 +GARD:0020899,Orphanet,263410,ORPHA:263410,1,SLC19A3,"[THTR2, thiamine transporter 2]",solute carrier family 19 member 3,gene with protein product,2q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21176162],606152,ENSG00000135917,1016,Q9BZV2,Q9BZV2,HGNC:16266 +GARD:0020903,Orphanet,263455,ORPHA:263455,1,HNF4A,"[HNF4, NR2A1]",hepatocyte nuclear factor 4 alpha,gene with protein product,20q13.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:20931292, PMID:25733449]",600281,ENSG00000101076,608,P41235,P41235,HGNC:5024 +GARD:0020947,Orphanet,268261,ORPHA:268261,1,DYRK1A,,dual specificity tyrosine phosphorylation regulated kinase 1A,gene with protein product,21q22.13,Role in the phenotype of,Assessed,"[PMID:21031080, PMID:25944381, PMID:26677511]",600855,ENSG00000157540,2009,Q13627,Q13627,HGNC:3091 +GARD:0020952,Orphanet,268377,ORPHA:268377,6,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Major susceptibility factor in,Assessed,[PMID:22241680],607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0020952,Orphanet,268377,ORPHA:268377,6,VANGL1,[STB2],VANGL planar cell polarity protein 1,gene with protein product,1p13.1,Major susceptibility factor in,Assessed,"[PMID:17409324, PMID:19319979]",610132,ENSG00000173218,,Q8TAA9,Q8TAA9,HGNC:15512 +GARD:0020952,Orphanet,268377,ORPHA:268377,6,VANGL2,"['vang, van gogh-like 2', KIAA1215, LPP1, LTAP, Loop-tail-associated protein, MGC119403, MGC119404, STB1, STBM, STBM1, Strabismus, Vang, van gogh-like 2, loop-tail-associated protein, strabismus]",VANGL planar cell polarity protein 2,gene with protein product,1q23.2,Major susceptibility factor in,Assessed,[PMID:20738329],600533,ENSG00000162738,,Q9ULK5,Q9ULK5,HGNC:15511 +GARD:0020952,Orphanet,268377,ORPHA:268377,6,TBXT,,T-box transcription factor T,gene with protein product,6q27,Major susceptibility factor in,Assessed,[PMID:15449172],601397,ENSG00000164458,,O15178,,HGNC:11515 +GARD:0020952,Orphanet,268377,ORPHA:268377,6,FUZ,"[CPLANE3, FLJ22688, Fy]",fuzzy planar cell polarity protein,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21840926],610622,ENSG00000010361,,Q9BT04,Q9BT04,HGNC:26219 +GARD:0020952,Orphanet,268377,ORPHA:268377,6,MTHFD1,,"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",gene with protein product,14q23.3,Major susceptibility factor in,Assessed,[PMID:16552426],172460,ENSG00000100714,,P11586,P11586,HGNC:7432 +GARD:0020953,Orphanet,268384,ORPHA:268384,6,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Major susceptibility factor in,Assessed,[PMID:22241680],607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0020953,Orphanet,268384,ORPHA:268384,6,VANGL1,[STB2],VANGL planar cell polarity protein 1,gene with protein product,1p13.1,Major susceptibility factor in,Assessed,"[PMID:17409324, PMID:19319979]",610132,ENSG00000173218,,Q8TAA9,Q8TAA9,HGNC:15512 +GARD:0020953,Orphanet,268384,ORPHA:268384,6,VANGL2,"['vang, van gogh-like 2', KIAA1215, LPP1, LTAP, Loop-tail-associated protein, MGC119403, MGC119404, STB1, STBM, STBM1, Strabismus, Vang, van gogh-like 2, loop-tail-associated protein, strabismus]",VANGL planar cell polarity protein 2,gene with protein product,1q23.2,Major susceptibility factor in,Assessed,[PMID:20738329],600533,ENSG00000162738,,Q9ULK5,Q9ULK5,HGNC:15511 +GARD:0020953,Orphanet,268384,ORPHA:268384,6,TBXT,,T-box transcription factor T,gene with protein product,6q27,Major susceptibility factor in,Assessed,[PMID:15449172],601397,ENSG00000164458,,O15178,,HGNC:11515 +GARD:0020953,Orphanet,268384,ORPHA:268384,6,FUZ,"[CPLANE3, FLJ22688, Fy]",fuzzy planar cell polarity protein,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21840926],610622,ENSG00000010361,,Q9BT04,Q9BT04,HGNC:26219 +GARD:0020953,Orphanet,268384,ORPHA:268384,6,MTHFD1,,"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",gene with protein product,14q23.3,Major susceptibility factor in,Assessed,[PMID:16552426],172460,ENSG00000100714,,P11586,P11586,HGNC:7432 +GARD:0020954,Orphanet,268388,ORPHA:268388,6,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Major susceptibility factor in,Assessed,[PMID:22241680],607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0020954,Orphanet,268388,ORPHA:268388,6,VANGL1,[STB2],VANGL planar cell polarity protein 1,gene with protein product,1p13.1,Major susceptibility factor in,Assessed,"[PMID:17409324, PMID:19319979]",610132,ENSG00000173218,,Q8TAA9,Q8TAA9,HGNC:15512 +GARD:0020954,Orphanet,268388,ORPHA:268388,6,VANGL2,"['vang, van gogh-like 2', KIAA1215, LPP1, LTAP, Loop-tail-associated protein, MGC119403, MGC119404, STB1, STBM, STBM1, Strabismus, Vang, van gogh-like 2, loop-tail-associated protein, strabismus]",VANGL planar cell polarity protein 2,gene with protein product,1q23.2,Major susceptibility factor in,Assessed,[PMID:20738329],600533,ENSG00000162738,,Q9ULK5,Q9ULK5,HGNC:15511 +GARD:0020954,Orphanet,268388,ORPHA:268388,6,TBXT,,T-box transcription factor T,gene with protein product,6q27,Major susceptibility factor in,Assessed,[PMID:15449172],601397,ENSG00000164458,,O15178,,HGNC:11515 +GARD:0020954,Orphanet,268388,ORPHA:268388,6,FUZ,"[CPLANE3, FLJ22688, Fy]",fuzzy planar cell polarity protein,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21840926],610622,ENSG00000010361,,Q9BT04,Q9BT04,HGNC:26219 +GARD:0020954,Orphanet,268388,ORPHA:268388,6,MTHFD1,,"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",gene with protein product,14q23.3,Major susceptibility factor in,Assessed,[PMID:16552426],172460,ENSG00000100714,,P11586,P11586,HGNC:7432 +GARD:0020955,Orphanet,268392,ORPHA:268392,6,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Major susceptibility factor in,Assessed,[PMID:22241680],607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0020955,Orphanet,268392,ORPHA:268392,6,VANGL1,[STB2],VANGL planar cell polarity protein 1,gene with protein product,1p13.1,Major susceptibility factor in,Assessed,"[PMID:17409324, PMID:19319979]",610132,ENSG00000173218,,Q8TAA9,Q8TAA9,HGNC:15512 +GARD:0020955,Orphanet,268392,ORPHA:268392,6,VANGL2,"['vang, van gogh-like 2', KIAA1215, LPP1, LTAP, Loop-tail-associated protein, MGC119403, MGC119404, STB1, STBM, STBM1, Strabismus, Vang, van gogh-like 2, loop-tail-associated protein, strabismus]",VANGL planar cell polarity protein 2,gene with protein product,1q23.2,Major susceptibility factor in,Assessed,[PMID:20738329],600533,ENSG00000162738,,Q9ULK5,Q9ULK5,HGNC:15511 +GARD:0020955,Orphanet,268392,ORPHA:268392,6,TBXT,,T-box transcription factor T,gene with protein product,6q27,Major susceptibility factor in,Assessed,[PMID:15449172],601397,ENSG00000164458,,O15178,,HGNC:11515 +GARD:0020955,Orphanet,268392,ORPHA:268392,6,FUZ,"[CPLANE3, FLJ22688, Fy]",fuzzy planar cell polarity protein,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21840926],610622,ENSG00000010361,,Q9BT04,Q9BT04,HGNC:26219 +GARD:0020955,Orphanet,268392,ORPHA:268392,6,MTHFD1,,"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",gene with protein product,14q23.3,Major susceptibility factor in,Assessed,[PMID:16552426],172460,ENSG00000100714,,P11586,P11586,HGNC:7432 +GARD:0020956,Orphanet,268397,ORPHA:268397,6,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Major susceptibility factor in,Assessed,[PMID:22241680],607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0020956,Orphanet,268397,ORPHA:268397,6,VANGL1,[STB2],VANGL planar cell polarity protein 1,gene with protein product,1p13.1,Major susceptibility factor in,Assessed,"[PMID:17409324, PMID:19319979]",610132,ENSG00000173218,,Q8TAA9,Q8TAA9,HGNC:15512 +GARD:0020956,Orphanet,268397,ORPHA:268397,6,VANGL2,"['vang, van gogh-like 2', KIAA1215, LPP1, LTAP, Loop-tail-associated protein, MGC119403, MGC119404, STB1, STBM, STBM1, Strabismus, Vang, van gogh-like 2, loop-tail-associated protein, strabismus]",VANGL planar cell polarity protein 2,gene with protein product,1q23.2,Major susceptibility factor in,Assessed,[PMID:20738329],600533,ENSG00000162738,,Q9ULK5,Q9ULK5,HGNC:15511 +GARD:0020956,Orphanet,268397,ORPHA:268397,6,TBXT,,T-box transcription factor T,gene with protein product,6q27,Major susceptibility factor in,Assessed,[PMID:15449172],601397,ENSG00000164458,,O15178,,HGNC:11515 +GARD:0020956,Orphanet,268397,ORPHA:268397,6,FUZ,"[CPLANE3, FLJ22688, Fy]",fuzzy planar cell polarity protein,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21840926],610622,ENSG00000010361,,Q9BT04,Q9BT04,HGNC:26219 +GARD:0020956,Orphanet,268397,ORPHA:268397,6,MTHFD1,,"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",gene with protein product,14q23.3,Major susceptibility factor in,Assessed,[PMID:16552426],172460,ENSG00000100714,,P11586,P11586,HGNC:7432 +GARD:0020957,Orphanet,268740,ORPHA:268740,6,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Major susceptibility factor in,Assessed,[PMID:22241680],607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0020957,Orphanet,268740,ORPHA:268740,6,VANGL1,[STB2],VANGL planar cell polarity protein 1,gene with protein product,1p13.1,Major susceptibility factor in,Assessed,"[PMID:17409324, PMID:19319979]",610132,ENSG00000173218,,Q8TAA9,Q8TAA9,HGNC:15512 +GARD:0020957,Orphanet,268740,ORPHA:268740,6,VANGL2,"['vang, van gogh-like 2', KIAA1215, LPP1, LTAP, Loop-tail-associated protein, MGC119403, MGC119404, STB1, STBM, STBM1, Strabismus, Vang, van gogh-like 2, loop-tail-associated protein, strabismus]",VANGL planar cell polarity protein 2,gene with protein product,1q23.2,Major susceptibility factor in,Assessed,[PMID:20738329],600533,ENSG00000162738,,Q9ULK5,Q9ULK5,HGNC:15511 +GARD:0020957,Orphanet,268740,ORPHA:268740,6,TBXT,,T-box transcription factor T,gene with protein product,6q27,Major susceptibility factor in,Assessed,[PMID:15449172],601397,ENSG00000164458,,O15178,,HGNC:11515 +GARD:0020957,Orphanet,268740,ORPHA:268740,6,FUZ,"[CPLANE3, FLJ22688, Fy]",fuzzy planar cell polarity protein,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21840926],610622,ENSG00000010361,,Q9BT04,Q9BT04,HGNC:26219 +GARD:0020957,Orphanet,268740,ORPHA:268740,6,MTHFD1,,"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",gene with protein product,14q23.3,Major susceptibility factor in,Assessed,[PMID:16552426],172460,ENSG00000100714,,P11586,P11586,HGNC:7432 +GARD:0020959,Orphanet,268748,ORPHA:268748,6,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Major susceptibility factor in,Assessed,[PMID:22241680],607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0020959,Orphanet,268748,ORPHA:268748,6,VANGL1,[STB2],VANGL planar cell polarity protein 1,gene with protein product,1p13.1,Major susceptibility factor in,Assessed,"[PMID:17409324, PMID:19319979]",610132,ENSG00000173218,,Q8TAA9,Q8TAA9,HGNC:15512 +GARD:0020959,Orphanet,268748,ORPHA:268748,6,VANGL2,"['vang, van gogh-like 2', KIAA1215, LPP1, LTAP, Loop-tail-associated protein, MGC119403, MGC119404, STB1, STBM, STBM1, Strabismus, Vang, van gogh-like 2, loop-tail-associated protein, strabismus]",VANGL planar cell polarity protein 2,gene with protein product,1q23.2,Major susceptibility factor in,Assessed,[PMID:20738329],600533,ENSG00000162738,,Q9ULK5,Q9ULK5,HGNC:15511 +GARD:0020959,Orphanet,268748,ORPHA:268748,6,TBXT,,T-box transcription factor T,gene with protein product,6q27,Major susceptibility factor in,Assessed,[PMID:15449172],601397,ENSG00000164458,,O15178,,HGNC:11515 +GARD:0020959,Orphanet,268748,ORPHA:268748,6,FUZ,"[CPLANE3, FLJ22688, Fy]",fuzzy planar cell polarity protein,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21840926],610622,ENSG00000010361,,Q9BT04,Q9BT04,HGNC:26219 +GARD:0020959,Orphanet,268748,ORPHA:268748,6,MTHFD1,,"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",gene with protein product,14q23.3,Major susceptibility factor in,Assessed,[PMID:16552426],172460,ENSG00000100714,,P11586,P11586,HGNC:7432 +GARD:0020960,Orphanet,268752,ORPHA:268752,6,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Major susceptibility factor in,Assessed,[PMID:22241680],607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0020960,Orphanet,268752,ORPHA:268752,6,VANGL1,[STB2],VANGL planar cell polarity protein 1,gene with protein product,1p13.1,Major susceptibility factor in,Assessed,"[PMID:17409324, PMID:19319979]",610132,ENSG00000173218,,Q8TAA9,Q8TAA9,HGNC:15512 +GARD:0020960,Orphanet,268752,ORPHA:268752,6,VANGL2,"['vang, van gogh-like 2', KIAA1215, LPP1, LTAP, Loop-tail-associated protein, MGC119403, MGC119404, STB1, STBM, STBM1, Strabismus, Vang, van gogh-like 2, loop-tail-associated protein, strabismus]",VANGL planar cell polarity protein 2,gene with protein product,1q23.2,Major susceptibility factor in,Assessed,[PMID:20738329],600533,ENSG00000162738,,Q9ULK5,Q9ULK5,HGNC:15511 +GARD:0020960,Orphanet,268752,ORPHA:268752,6,TBXT,,T-box transcription factor T,gene with protein product,6q27,Major susceptibility factor in,Assessed,[PMID:15449172],601397,ENSG00000164458,,O15178,,HGNC:11515 +GARD:0020960,Orphanet,268752,ORPHA:268752,6,FUZ,"[CPLANE3, FLJ22688, Fy]",fuzzy planar cell polarity protein,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21840926],610622,ENSG00000010361,,Q9BT04,Q9BT04,HGNC:26219 +GARD:0020960,Orphanet,268752,ORPHA:268752,6,MTHFD1,,"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",gene with protein product,14q23.3,Major susceptibility factor in,Assessed,[PMID:16552426],172460,ENSG00000100714,,P11586,P11586,HGNC:7432 +GARD:0020961,Orphanet,268758,ORPHA:268758,6,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Major susceptibility factor in,Assessed,[PMID:22241680],607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0020961,Orphanet,268758,ORPHA:268758,6,VANGL1,[STB2],VANGL planar cell polarity protein 1,gene with protein product,1p13.1,Major susceptibility factor in,Assessed,"[PMID:17409324, PMID:19319979]",610132,ENSG00000173218,,Q8TAA9,Q8TAA9,HGNC:15512 +GARD:0020961,Orphanet,268758,ORPHA:268758,6,VANGL2,"['vang, van gogh-like 2', KIAA1215, LPP1, LTAP, Loop-tail-associated protein, MGC119403, MGC119404, STB1, STBM, STBM1, Strabismus, Vang, van gogh-like 2, loop-tail-associated protein, strabismus]",VANGL planar cell polarity protein 2,gene with protein product,1q23.2,Major susceptibility factor in,Assessed,[PMID:20738329],600533,ENSG00000162738,,Q9ULK5,Q9ULK5,HGNC:15511 +GARD:0020961,Orphanet,268758,ORPHA:268758,6,TBXT,,T-box transcription factor T,gene with protein product,6q27,Major susceptibility factor in,Assessed,[PMID:15449172],601397,ENSG00000164458,,O15178,,HGNC:11515 +GARD:0020961,Orphanet,268758,ORPHA:268758,6,FUZ,"[CPLANE3, FLJ22688, Fy]",fuzzy planar cell polarity protein,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21840926],610622,ENSG00000010361,,Q9BT04,Q9BT04,HGNC:26219 +GARD:0020961,Orphanet,268758,ORPHA:268758,6,MTHFD1,,"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",gene with protein product,14q23.3,Major susceptibility factor in,Assessed,[PMID:16552426],172460,ENSG00000100714,,P11586,P11586,HGNC:7432 +GARD:0020962,Orphanet,268762,ORPHA:268762,6,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Major susceptibility factor in,Assessed,[PMID:22241680],607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0020962,Orphanet,268762,ORPHA:268762,6,VANGL1,[STB2],VANGL planar cell polarity protein 1,gene with protein product,1p13.1,Major susceptibility factor in,Assessed,"[PMID:17409324, PMID:19319979]",610132,ENSG00000173218,,Q8TAA9,Q8TAA9,HGNC:15512 +GARD:0020962,Orphanet,268762,ORPHA:268762,6,VANGL2,"['vang, van gogh-like 2', KIAA1215, LPP1, LTAP, Loop-tail-associated protein, MGC119403, MGC119404, STB1, STBM, STBM1, Strabismus, Vang, van gogh-like 2, loop-tail-associated protein, strabismus]",VANGL planar cell polarity protein 2,gene with protein product,1q23.2,Major susceptibility factor in,Assessed,[PMID:20738329],600533,ENSG00000162738,,Q9ULK5,Q9ULK5,HGNC:15511 +GARD:0020962,Orphanet,268762,ORPHA:268762,6,TBXT,,T-box transcription factor T,gene with protein product,6q27,Major susceptibility factor in,Assessed,[PMID:15449172],601397,ENSG00000164458,,O15178,,HGNC:11515 +GARD:0020962,Orphanet,268762,ORPHA:268762,6,FUZ,"[CPLANE3, FLJ22688, Fy]",fuzzy planar cell polarity protein,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21840926],610622,ENSG00000010361,,Q9BT04,Q9BT04,HGNC:26219 +GARD:0020962,Orphanet,268762,ORPHA:268762,6,MTHFD1,,"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",gene with protein product,14q23.3,Major susceptibility factor in,Assessed,[PMID:16552426],172460,ENSG00000100714,,P11586,P11586,HGNC:7432 +GARD:0020963,Orphanet,268766,ORPHA:268766,6,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Major susceptibility factor in,Assessed,[PMID:22241680],607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0020963,Orphanet,268766,ORPHA:268766,6,VANGL1,[STB2],VANGL planar cell polarity protein 1,gene with protein product,1p13.1,Major susceptibility factor in,Assessed,"[PMID:17409324, PMID:19319979]",610132,ENSG00000173218,,Q8TAA9,Q8TAA9,HGNC:15512 +GARD:0020963,Orphanet,268766,ORPHA:268766,6,VANGL2,"['vang, van gogh-like 2', KIAA1215, LPP1, LTAP, Loop-tail-associated protein, MGC119403, MGC119404, STB1, STBM, STBM1, Strabismus, Vang, van gogh-like 2, loop-tail-associated protein, strabismus]",VANGL planar cell polarity protein 2,gene with protein product,1q23.2,Major susceptibility factor in,Assessed,[PMID:20738329],600533,ENSG00000162738,,Q9ULK5,Q9ULK5,HGNC:15511 +GARD:0020963,Orphanet,268766,ORPHA:268766,6,TBXT,,T-box transcription factor T,gene with protein product,6q27,Major susceptibility factor in,Assessed,[PMID:15449172],601397,ENSG00000164458,,O15178,,HGNC:11515 +GARD:0020963,Orphanet,268766,ORPHA:268766,6,FUZ,"[CPLANE3, FLJ22688, Fy]",fuzzy planar cell polarity protein,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21840926],610622,ENSG00000010361,,Q9BT04,Q9BT04,HGNC:26219 +GARD:0020963,Orphanet,268766,ORPHA:268766,6,MTHFD1,,"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",gene with protein product,14q23.3,Major susceptibility factor in,Assessed,[PMID:16552426],172460,ENSG00000100714,,P11586,P11586,HGNC:7432 +GARD:0020964,Orphanet,268770,ORPHA:268770,6,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Major susceptibility factor in,Assessed,[PMID:22241680],607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0020964,Orphanet,268770,ORPHA:268770,6,VANGL1,[STB2],VANGL planar cell polarity protein 1,gene with protein product,1p13.1,Major susceptibility factor in,Assessed,"[PMID:17409324, PMID:19319979]",610132,ENSG00000173218,,Q8TAA9,Q8TAA9,HGNC:15512 +GARD:0020964,Orphanet,268770,ORPHA:268770,6,VANGL2,"['vang, van gogh-like 2', KIAA1215, LPP1, LTAP, Loop-tail-associated protein, MGC119403, MGC119404, STB1, STBM, STBM1, Strabismus, Vang, van gogh-like 2, loop-tail-associated protein, strabismus]",VANGL planar cell polarity protein 2,gene with protein product,1q23.2,Major susceptibility factor in,Assessed,[PMID:20738329],600533,ENSG00000162738,,Q9ULK5,Q9ULK5,HGNC:15511 +GARD:0020964,Orphanet,268770,ORPHA:268770,6,TBXT,,T-box transcription factor T,gene with protein product,6q27,Major susceptibility factor in,Assessed,[PMID:15449172],601397,ENSG00000164458,,O15178,,HGNC:11515 +GARD:0020964,Orphanet,268770,ORPHA:268770,6,FUZ,"[CPLANE3, FLJ22688, Fy]",fuzzy planar cell polarity protein,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21840926],610622,ENSG00000010361,,Q9BT04,Q9BT04,HGNC:26219 +GARD:0020964,Orphanet,268770,ORPHA:268770,6,MTHFD1,,"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",gene with protein product,14q23.3,Major susceptibility factor in,Assessed,[PMID:16552426],172460,ENSG00000100714,,P11586,P11586,HGNC:7432 +GARD:0020969,Orphanet,268823,ORPHA:268823,1,DACT1,"[DAPPER, DAPPER1, FRODO, HDPR1, THYEX3]",dishevelled binding antagonist of beta catenin 1,gene with protein product,14q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22610794],607861,ENSG00000165617,,Q9NYF0,Q9NYF0,HGNC:17748 +GARD:0020977,Orphanet,268920,ORPHA:268920,1,TBC1D7,"[FLJ32666, TS complex subunit 3, dJ257A7.3]",TBC1 domain family member 7,gene with protein product,6p24.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23687350],612655,ENSG00000145979,,Q9P0N9,Q9P0N9,HGNC:21066 +GARD:0020984,Orphanet,268973,ORPHA:268973,1,SLC35A2,"[UGAT, UGT, UGT1, UGT2, UGTL]",solute carrier family 35 member A2,gene with protein product,Xp11.23,Disease-causing somatic mutation(s) in,Assessed,[PMID:29679388],314375,ENSG00000102100,1139,P78381,P78381,HGNC:11022 +GARD:0020993,Orphanet,269212,ORPHA:269212,2,ZIC1,"[ZIC, ZNF201]",Zic family member 1,gene with protein product,3q24,Role in the phenotype of,Assessed,"[PMID:15338008, PMID:15733262, PMID:21204220, PMID:21307096]",600470,ENSG00000152977,,Q15915,Q15915,HGNC:12872 +GARD:0020993,Orphanet,269212,ORPHA:269212,2,ZIC4,,Zic family member 4,gene with protein product,3q24,Role in the phenotype of,Assessed,"[PMID:15338008, PMID:15733262, PMID:21204220, PMID:21307096]",608948,ENSG00000174963,,Q8N9L1,,HGNC:20393 +GARD:0020994,Orphanet,269215,ORPHA:269215,3,ZIC1,"[ZIC, ZNF201]",Zic family member 1,gene with protein product,3q24,Role in the phenotype of,Assessed,"[PMID:15338008, PMID:15733262, PMID:21204220, PMID:21307096]",600470,ENSG00000152977,,Q15915,Q15915,HGNC:12872 +GARD:0020994,Orphanet,269215,ORPHA:269215,3,ZIC4,,Zic family member 4,gene with protein product,3q24,Role in the phenotype of,Assessed,"[PMID:15338008, PMID:15733262, PMID:21204220, PMID:21307096]",608948,ENSG00000174963,,Q8N9L1,,HGNC:20393 +GARD:0020994,Orphanet,269215,ORPHA:269215,3,NID1,[entactin],nidogen 1,gene with protein product,1q42.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30773799],131390,ENSG00000116962,,P14543,,HGNC:7821 +GARD:0020998,Orphanet,269505,ORPHA:269505,2,MPDZ,[MUPP1],multiple PDZ domain crumbs cell polarity complex component,gene with protein product,9p23,Disease-causing germline mutation(s) in,Assessed,[PMID:23240096],603785,ENSG00000107186,,O75970,O75970,HGNC:7208 +GARD:0020998,Orphanet,269505,ORPHA:269505,2,TRIM71,"[LIN-41, LIN41]",tripartite motif containing 71,gene with protein product,3p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29983323],618570,ENSG00000206557,,Q2Q1W2,,HGNC:32669 +GARD:0021026,Orphanet,275786,ORPHA:275786,1,BMPR2,"[BMPR-II, BMPR3, BRK-3, T-ALK]",bone morphogenetic protein receptor type 2,gene with protein product,2q33.1-q33.2,Major susceptibility factor in,Assessed,[PMID:22523367],600799,ENSG00000204217,1794,Q13873,Q13873,HGNC:1078 +GARD:0021028,Orphanet,275798,ORPHA:275798,1,HLA-B,,"major histocompatibility complex, class I, B",gene with protein product,6p21.33,Major susceptibility factor in,Not yet assessed,,142830,ENSG00000234745,,P01889,P30486,HGNC:4932 +GARD:0021041,Orphanet,276066,ORPHA:276066,1,SLC27A5,"[ACSB, ACSVL6, FACVL3, FATP5, FLJ22987, VLACSR, VLCS-H2, VLCSH2, fatty-acid-Coenzyme A ligase, very long-chain 3]",solute carrier family 27 member 5,gene with protein product,19q13.43,Candidate gene tested in,Not yet assessed,[PMID:22089923],603314,ENSG00000083807,1112,Q9Y2P5,Q9Y2P5,HGNC:10999 +GARD:0021046,Orphanet,276212,ORPHA:276212,1,ARSB,,arylsulfatase B,gene with protein product,5q14.1,Disease-causing germline mutation(s) in,Assessed,,611542,ENSG00000113273,,P15848,P15848,HGNC:714 +GARD:0021047,Orphanet,276223,ORPHA:276223,1,ARSB,,arylsulfatase B,gene with protein product,5q14.1,Disease-causing germline mutation(s) in,Assessed,,611542,ENSG00000113273,,P15848,P15848,HGNC:714 +GARD:0021048,Orphanet,276238,ORPHA:276238,1,ATXN3,"[ATX3, JOS]",ataxin 3,gene with protein product,14q32.12,Disease-causing germline mutation(s) in,Assessed,,607047,ENSG00000066427,,P54252,P54252,HGNC:7106 +GARD:0021049,Orphanet,276241,ORPHA:276241,1,ATXN3,"[ATX3, JOS]",ataxin 3,gene with protein product,14q32.12,Disease-causing germline mutation(s) in,Assessed,,607047,ENSG00000066427,,P54252,P54252,HGNC:7106 +GARD:0021050,Orphanet,276244,ORPHA:276244,1,ATXN3,"[ATX3, JOS]",ataxin 3,gene with protein product,14q32.12,Disease-causing germline mutation(s) in,Assessed,,607047,ENSG00000066427,,P54252,P54252,HGNC:7106 +GARD:0021051,Orphanet,276280,ORPHA:276280,1,PIK3CA,[PI3K],"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",gene with protein product,3q26.32,Disease-causing somatic mutation(s) in,Assessed,[PMID:24782230],171834,ENSG00000121879,2153,P42336,P42336,HGNC:8975 +GARD:0021054,Orphanet,276556,ORPHA:276556,1,UCP2,[SLC25A8],uncoupling protein 2,gene with protein product,11q13.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19065272, PMID:25733449]",601693,ENSG00000175567,1067,P55851,P55851,HGNC:12518 +GARD:0021057,Orphanet,276630,ORPHA:276630,1,RPS6KA3,"[HU-3, RSK, RSK2]",ribosomal protein S6 kinase A3,gene with protein product,Xp22.12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301520],300075,ENSG00000177189,1528,P51812,P51812,HGNC:10432 +GARD:0021073,Orphanet,280219,ORPHA:280219,1,PLP1,"[GPM6C, Pelizaeus-Merzbacher disease]",proteolipid protein 1,gene with protein product,Xq22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301361],300401,ENSG00000123560,,P60201,,HGNC:9086 +GARD:0021074,Orphanet,280224,ORPHA:280224,1,PLP1,"[GPM6C, Pelizaeus-Merzbacher disease]",proteolipid protein 1,gene with protein product,Xq22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301361],300401,ENSG00000123560,,P60201,,HGNC:9086 +GARD:0021075,Orphanet,280229,ORPHA:280229,1,PLP1,"[GPM6C, Pelizaeus-Merzbacher disease]",proteolipid protein 1,gene with protein product,Xq22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301361],300401,ENSG00000123560,,P60201,,HGNC:9086 +GARD:0021078,Orphanet,280325,ORPHA:280325,1,ERC1,"[CAST2, ELKS, KIAA1081, MGC12974]",ELKS/RAB6-interacting/CAST family member 1,gene with protein product,12p13.33,Role in the phenotype of,Assessed,[PMID:22713806],607127,ENSG00000082805,,Q8IUD2,,HGNC:17072 +GARD:0021080,Orphanet,280365,ORPHA:280365,1,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:21346069],150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0021083,Orphanet,280384,ORPHA:280384,1,ERLIN2,"[Erlin-2, NET32]",ER lipid raft associated 2,gene with protein product,8p11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:21330303],611605,ENSG00000147475,,O94905,O94905,HGNC:1356 +GARD:0021084,Orphanet,280397,ORPHA:280397,1,PRNP,"[AltPrP, CD230, Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, PRP, fatal familial insomnia, p27-30]",prion protein,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,[PMID:21416485],176640,ENSG00000171867,,P04156,P04156,HGNC:9449 +GARD:0021088,Orphanet,280785,ORPHA:280785,1,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,[PMID:15173254],164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0021089,Orphanet,280794,ORPHA:280794,1,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,[PMID:15173254],164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0021108,Orphanet,281127,ORPHA:281127,1,TGM1,"[K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase, LI, LI1, TGASE, TGK]",transglutaminase 1,gene with protein product,14q12,Disease-causing germline mutation(s) in,Assessed,[PMID:19500103],190195,ENSG00000092295,,P22735,P22735,HGNC:11777 +GARD:0021128,Orphanet,284979,ORPHA:284979,1,FBN1,"[MASS, Marfan syndrome, OCTD, SGS, asprosin]",fibrillin 1,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20132243],134797,ENSG00000166147,,P35555,P35555,HGNC:3603 +GARD:0021134,Orphanet,289266,ORPHA:289266,1,GRIN2A,[GluN2A],glutamate ionotropic receptor NMDA type subunit 2A,gene with protein product,16p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20890276],138253,ENSG00000183454,456,Q12879,Q12879,HGNC:4585 +GARD:0021141,Orphanet,289513,ORPHA:289513,1,CNOT2,"[CDC36, NOT2H]",CCR4-NOT transcription complex subunit 2,gene with protein product,12q15,Role in the phenotype of,Assessed,[PMID:31145527],604909,ENSG00000111596,,Q9NZN8,Q9NZN8,HGNC:7878 +GARD:0021143,Orphanet,289548,ORPHA:289548,1,CYP11A1,"[P450SCC, cholesterol monooxygenase (side-chain-cleaving)]",cytochrome P450 family 11 subfamily A member 1,gene with protein product,15q24.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21880796],118485,ENSG00000140459,1358,P05108,P05108,HGNC:2590 +GARD:0021165,Orphanet,293199,ORPHA:293199,2,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:7706467],191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0021165,Orphanet,293199,ORPHA:293199,2,NF1,"[Watson disease, neurofibromatosis, von Recklinghausen disease]",neurofibromin 1,gene with protein product,17q11.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:34166060],613113,ENSG00000196712,,P21359,P21359,HGNC:7765 +GARD:0021166,Orphanet,293284,ORPHA:293284,1,PAH,"[PH, phenylalanine 4-monooxygenase]",phenylalanine hydroxylase,gene with protein product,12q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:12409276],612349,ENSG00000171759,1240,P00439,P00439,HGNC:8582 +GARD:0021173,Orphanet,293948,ORPHA:293948,1,DPYD,"[DHPDHase, DPD, Dihydrothymine dehydrogenase, Dihydrouracil dehydrogenase]",dihydropyrimidine dehydrogenase,gene with protein product,1p21.3,Role in the phenotype of,Assessed,"[PMID:21114665, PMID:22003227]",612779,ENSG00000188641,3102,Q12882,Q12882,HGNC:3012 +GARD:0021215,Orphanet,295191,ORPHA:295191,1,HOXD13,[synpolydactyly],homeobox D13,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24789103],142989,ENSG00000128714,,P35453,P35453,HGNC:5136 +GARD:0021217,Orphanet,295201,ORPHA:295201,1,HOXD10,,homeobox D10,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,,142984,ENSG00000128710,,P28358,,HGNC:5133 +GARD:0021218,Orphanet,295203,ORPHA:295203,1,HOXD10,,homeobox D10,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15146389, PMID:16450407]",142984,ENSG00000128710,,P28358,,HGNC:5133 +GARD:0021227,Orphanet,295239,ORPHA:295239,1,PIK3CA,[PI3K],"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",gene with protein product,3q26.32,Disease-causing somatic mutation(s) in,Assessed,[PMID:23100325],171834,ENSG00000121879,2153,P42336,P42336,HGNC:8975 +GARD:0021229,Orphanet,295243,ORPHA:295243,1,PIK3CA,[PI3K],"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",gene with protein product,3q26.32,Disease-causing somatic mutation(s) in,Assessed,[PMID:24782230],171834,ENSG00000121879,2153,P42336,P42336,HGNC:8975 +GARD:0021247,Orphanet,300865,ORPHA:300865,2,NPM1,"['nucleophosmin/nucleoplasmin family, member 1', B23, NPM, Nucleophosmin/nucleoplasmin family, member 1, Numatrin, nucleolar phosphoprotein B23, numatrin]",nucleophosmin 1,gene with protein product,5q35.1,Part of a fusion gene in,Assessed,[PMID:25349176],164040,ENSG00000181163,,P06748,P06748,HGNC:7910 +GARD:0021247,Orphanet,300865,ORPHA:300865,2,TYK2,[JTK1],tyrosine kinase 2,gene with protein product,19p13.2,Part of a fusion gene in,Assessed,[PMID:25349176],176941,ENSG00000105397,2269,P29597,P29597,HGNC:12440 +GARD:0021249,Orphanet,300878,ORPHA:300878,1,IGHV4-34,,immunoglobulin heavy variable 4-34,gene with protein product,14q32.33,Major susceptibility factor in,Assessed,"[PMID:19745070, PMID:21599610]",,ENSG00000211956,,P06331,P06331,HGNC:5650 +GARD:0021251,Orphanet,300895,ORPHA:300895,1,ALK,[CD246],ALK receptor tyrosine kinase,gene with protein product,2p23.2-p23.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:12112524],105590,ENSG00000171094,1839,Q9UM73,Q9UM73,HGNC:427 +GARD:0021310,Orphanet,308552,ORPHA:308552,1,GAA,"[Pompe disease, glycogen storage disease type II]",alpha glucosidase,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,,606800,ENSG00000171298,2611,P10253,P10253,HGNC:4065 +GARD:0021324,Orphanet,309178,ORPHA:309178,1,HEXA,"[GM2 gangliosidosis, Tay Sachs disease, beta-hexosaminidase subunit alpha]",hexosaminidase subunit alpha,gene with protein product,15q23,Disease-causing germline mutation(s) in,Assessed,,606869,ENSG00000213614,,P06865,P06865,HGNC:4878 +GARD:0021325,Orphanet,309185,ORPHA:309185,1,HEXA,"[GM2 gangliosidosis, Tay Sachs disease, beta-hexosaminidase subunit alpha]",hexosaminidase subunit alpha,gene with protein product,15q23,Disease-causing germline mutation(s) in,Assessed,,606869,ENSG00000213614,,P06865,P06865,HGNC:4878 +GARD:0021326,Orphanet,309192,ORPHA:309192,1,HEXA,"[GM2 gangliosidosis, Tay Sachs disease, beta-hexosaminidase subunit alpha]",hexosaminidase subunit alpha,gene with protein product,15q23,Disease-causing germline mutation(s) in,Assessed,,606869,ENSG00000213614,,P06865,P06865,HGNC:4878 +GARD:0021327,Orphanet,309239,ORPHA:309239,1,HEXA,"[GM2 gangliosidosis, Tay Sachs disease, beta-hexosaminidase subunit alpha]",hexosaminidase subunit alpha,gene with protein product,15q23,Disease-causing germline mutation(s) in,Assessed,,606869,ENSG00000213614,,P06865,P06865,HGNC:4878 +GARD:0021328,Orphanet,309256,ORPHA:309256,2,PSAP,"[saposin-A, saposin-B, saposin-C, saposin-D, variant Gaucher disease and variant metachromatic leukodystrophy]",prosaposin,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24478108],176801,ENSG00000197746,,P07602,P07602,HGNC:9498 +GARD:0021328,Orphanet,309256,ORPHA:309256,2,ARSA,[metachromatic leucodystrophy],arylsulfatase A,gene with protein product,22q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301309],607574,ENSG00000100299,,P15289,P15289,HGNC:713 +GARD:0021329,Orphanet,309263,ORPHA:309263,2,PSAP,"[saposin-A, saposin-B, saposin-C, saposin-D, variant Gaucher disease and variant metachromatic leukodystrophy]",prosaposin,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24478108],176801,ENSG00000197746,,P07602,P07602,HGNC:9498 +GARD:0021329,Orphanet,309263,ORPHA:309263,2,ARSA,[metachromatic leucodystrophy],arylsulfatase A,gene with protein product,22q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301309],607574,ENSG00000100299,,P15289,P15289,HGNC:713 +GARD:0021330,Orphanet,309271,ORPHA:309271,2,PSAP,"[saposin-A, saposin-B, saposin-C, saposin-D, variant Gaucher disease and variant metachromatic leukodystrophy]",prosaposin,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24478108],176801,ENSG00000197746,,P07602,P07602,HGNC:9498 +GARD:0021330,Orphanet,309271,ORPHA:309271,2,ARSA,[metachromatic leucodystrophy],arylsulfatase A,gene with protein product,22q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301309],607574,ENSG00000100299,,P15289,P15289,HGNC:713 +GARD:0021366,Orphanet,314029,ORPHA:314029,3,COL1A2,"[alpha 2(I)-collagen, alpha-2 collagen type I, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain, type I procollagen]",collagen type I alpha 2 chain,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21344539],120160,ENSG00000164692,,P08123,P08123,HGNC:2198 +GARD:0021366,Orphanet,314029,ORPHA:314029,3,COL1A1,[OI4],collagen type I alpha 1 chain,gene with protein product,17q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21344539],120150,ENSG00000108821,,P02452,P02452,HGNC:2197 +GARD:0021366,Orphanet,314029,ORPHA:314029,3,BMP1,"[BMP-1, tolloid-like]",bone morphogenetic protein 1,gene with protein product,8p21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:22482805, PMID:27264419]",112264,ENSG00000168487,2333,P13497,P13497,HGNC:1067 +GARD:0021382,Orphanet,314652,ORPHA:314652,1,B2M,,beta-2-microglobulin,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22693999],109700,ENSG00000166710,,P61769,P61769,HGNC:914 +GARD:0021383,Orphanet,314655,ORPHA:314655,1,PURA,"[PUR-ALPHA, PUR1, PURALPHA]",purine rich element binding protein A,gene with protein product,5q31.3,Role in the phenotype of,Assessed,[PMID:23950017],600473,ENSG00000185129,,Q00577,Q00577,HGNC:9701 +GARD:0021384,Orphanet,314662,ORPHA:314662,1,PIK3CA,[PI3K],"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",gene with protein product,3q26.32,Disease-causing somatic mutation(s) in,Assessed,[PMID:22729222],171834,ENSG00000121879,2153,P42336,P42336,HGNC:8975 +GARD:0021392,Orphanet,314786,ORPHA:314786,2,MEN1,[menin],menin 1,gene with protein product,11q13,Major susceptibility factor in,Assessed,[PMID:23321498],613733,ENSG00000133895,,O00255,O00255,HGNC:7010 +GARD:0021392,Orphanet,314786,ORPHA:314786,2,AIP,"[ARA9, Ah receptor activated 9, FK506-binding protein 37, FKBP prolyl isomerase 16, FKBP16, FKBP37, X-associated protein-2, XAP2, aryl hydrocarbon receptor-associated protein 9, hepatitis B virus X-associated cellular protein 2]",aryl hydrocarbon receptor interacting protein,gene with protein product,11q13.2,Major susceptibility factor in,Assessed,[PMID:23321498],605555,ENSG00000110711,,O00170,O00170,HGNC:358 +GARD:0021393,Orphanet,314790,ORPHA:314790,2,MEN1,[menin],menin 1,gene with protein product,11q13,Major susceptibility factor in,Assessed,[PMID:23321498],613733,ENSG00000133895,,O00255,O00255,HGNC:7010 +GARD:0021393,Orphanet,314790,ORPHA:314790,2,AIP,"[ARA9, Ah receptor activated 9, FK506-binding protein 37, FKBP prolyl isomerase 16, FKBP16, FKBP37, X-associated protein-2, XAP2, aryl hydrocarbon receptor-associated protein 9, hepatitis B virus X-associated cellular protein 2]",aryl hydrocarbon receptor interacting protein,gene with protein product,11q13.2,Major susceptibility factor in,Assessed,[PMID:23321498],605555,ENSG00000110711,,O00170,O00170,HGNC:358 +GARD:0021395,Orphanet,314950,ORPHA:314950,5,PDGFRB,"[CD140b, JTK12, PDGFR1]",platelet derived growth factor receptor beta,gene with protein product,5q32,Part of a fusion gene in,Assessed,"[PMID:22460074, PMID:24577808]",173410,ENSG00000113721,1804,P09619,P09619,HGNC:8804 +GARD:0021395,Orphanet,314950,ORPHA:314950,5,ETV6,"[TEL, TEL oncogene]",ETS variant transcription factor 6,gene with protein product,12p13.2,Part of a fusion gene in,Assessed,"[PMID:22460074, PMID:24577808]",600618,ENSG00000139083,,P41212,P41212,HGNC:3495 +GARD:0021395,Orphanet,314950,ORPHA:314950,5,FIP1L1,"[DKFZp586K0717, FIP1]",factor interacting with PAPOLA and CPSF1,gene with protein product,4q12,Part of a fusion gene in,Assessed,"[PMID:22460074, PMID:24577808]",607686,ENSG00000145216,,Q6UN15,Q6UN15,HGNC:19124 +GARD:0021395,Orphanet,314950,ORPHA:314950,5,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Part of a fusion gene in,Assessed,"[PMID:22460074, PMID:24577808]",136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0021395,Orphanet,314950,ORPHA:314950,5,PDGFRA,"[CD140a, GAS9, PDGFR2]",platelet derived growth factor receptor alpha,gene with protein product,4q12,Part of a fusion gene in,Assessed,"[PMID:22460074, PMID:24577808]",173490,ENSG00000134853,1803,P16234,P16234,HGNC:8803 +GARD:0021398,Orphanet,315306,ORPHA:315306,1,CYP21A2,"[CA21H, CAH1, CPS1, P450c21B, Steroid 21-monooxygenase]",cytochrome P450 family 21 subfamily A member 2,gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,,613815,ENSG00000231852,1364,P08686,P08686,HGNC:2600 +GARD:0021399,Orphanet,315311,ORPHA:315311,1,CYP21A2,"[CA21H, CAH1, CPS1, P450c21B, Steroid 21-monooxygenase]",cytochrome P450 family 21 subfamily A member 2,gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,,613815,ENSG00000231852,1364,P08686,P08686,HGNC:2600 +GARD:0021407,Orphanet,319192,ORPHA:319192,1,PCDH12,[VE-cadherin-2],protocadherin 12,gene with protein product,5q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30178464],605622,ENSG00000113555,,Q9NPG4,,HGNC:8657 +GARD:0021425,Orphanet,319589,ORPHA:319589,1,IFNGR2,[AF-1],interferon gamma receptor 2,gene with protein product,21q22.11,Disease-causing germline mutation(s) in,Assessed,,147569,ENSG00000159128,1726,P38484,P38484,HGNC:5440 +GARD:0021433,Orphanet,320360,ORPHA:320360,1,MT-ATP6,"[ATP6, ATPase-6, Su6m, mitochondrially encoded ATP synthase membrane subunit a]",mitochondrially encoded ATP synthase membrane subunit 6,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:20656066],516060,ENSG00000198899,801,P00846,P00846,HGNC:7414 +GARD:0021435,Orphanet,324299,ORPHA:324299,1,EPAS1,"[HIF-1 alpha-like factor, HIF2A, HLF, MOP2, PASD2, bHLHe73]",endothelial PAS domain protein 1,gene with protein product,2p21,Disease-causing somatic mutation(s) in,Assessed,[PMID:22931260],603349,ENSG00000116016,3148,Q99814,Q99814,HGNC:3374 +GARD:0021442,Orphanet,324525,ORPHA:324525,1,MT-TL1,[TRNL1],mitochondrially encoded tRNA-Leu (UUA/G) 1,Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:22781753],590050,ENSG00000209082,,,,HGNC:7490 +GARD:0021444,Orphanet,324575,ORPHA:324575,1,HNF1A,"[HNF1, HNF1a, LFB1]",HNF1 homeobox A,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:22802087, PMID:25733449]",142410,ENSG00000135100,,P20823,P20823,HGNC:11621 +GARD:0021445,Orphanet,324581,ORPHA:324581,1,RYR1,"[PPP1R137, RYR, protein phosphatase 1, regulatory subunit 137]",ryanodine receptor 1,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22752422],180901,ENSG00000196218,747,P21817,P21817,HGNC:10483 +GARD:0021446,Orphanet,324585,ORPHA:324585,1,MPZ,"[CMT2I, CMT2J, HMSNIB, P0]",myelin protein zero,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22704856],159440,ENSG00000158887,,P25189,,HGNC:7225 +GARD:0021447,Orphanet,324611,ORPHA:324611,1,KIF5A,"[D12S1889, MY050, NKHC]",kinesin family member 5A,gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21623771],602821,ENSG00000155980,,Q12840,Q12840,HGNC:6323 +GARD:0021473,Orphanet,325524,ORPHA:325524,1,STAR,"[STARD1, StAR, StAR related lipid transfer (START) domain containing 1]",steroidogenic acute regulatory protein,gene with protein product,8p11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20444910],600617,ENSG00000147465,,P49675,P49675,HGNC:11359 +GARD:0021474,Orphanet,325529,ORPHA:325529,1,STAR,"[STARD1, StAR, StAR related lipid transfer (START) domain containing 1]",steroidogenic acute regulatory protein,gene with protein product,8p11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20444910],600617,ENSG00000147465,,P49675,P49675,HGNC:11359 +GARD:0021485,Orphanet,329217,ORPHA:329217,3,PROZ,[PZ],"protein Z, vitamin K dependent plasma glycoprotein",gene with protein product,13q34,Candidate gene tested in,Not yet assessed,"[PMID:18677630, PMID:20416992, PMID:21350198]",176895,ENSG00000126231,,P22891,P22891,HGNC:9460 +GARD:0021485,Orphanet,329217,ORPHA:329217,3,F2,[prepro-coagulation factor II],"coagulation factor II, thrombin",gene with protein product,11p11.2,Major susceptibility factor in,Assessed,"[PMID:16175009, PMID:21350198, PMID:22645618, PMID:22716977, PMID:23073861, PMID:23927452]",176930,ENSG00000180210,2362,P00734,P00734,HGNC:3535 +GARD:0021485,Orphanet,329217,ORPHA:329217,3,F5,,coagulation factor V,gene with protein product,1q24.2,Major susceptibility factor in,Assessed,"[PMID:10519989, PMID:21350198, PMID:22721898, PMID:23073861]",612309,ENSG00000198734,2606,P12259,P12259,HGNC:3542 +GARD:0021486,Orphanet,329249,ORPHA:329249,1,SH2B1,"[FLJ30542, SH2-B homolog, SH2B]",SH2B adaptor protein 1,gene with protein product,16p11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23160192],608937,ENSG00000178188,,Q9NRF2,Q9NRF2,HGNC:30417 +GARD:0021487,Orphanet,329319,ORPHA:329319,1,THPO,"[MPL ligand, MPLLG, TPO, c-mpl ligand, megakaryocyte colony-stimulating factor, megakaryocyte growth and development factor, megakaryocyte stimulating factor, myeloproliferative leukemia virus oncogene ligand, prepro-thrombopoietin]",thrombopoietin,gene with protein product,3q27.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19553636],600044,ENSG00000090534,,P40225,P40225,HGNC:11795 +GARD:0021490,Orphanet,329469,ORPHA:329469,2,CBFA2T3,"[ETO2, MTG16, MTGR2, Myeloid translocation gene 8 and 16b, RUNX1T3, ZMYND4, myeloid translocation gene 8 and 16b]",CBFA2/RUNX1 partner transcriptional co-repressor 3,gene with protein product,16q24.3,Part of a fusion gene in,Assessed,[PMID:23153540],603870,ENSG00000129993,,O75081,,HGNC:1537 +GARD:0021490,Orphanet,329469,ORPHA:329469,2,GLIS2,"[Gli-similar 2, NPHP7, nephrocystin-7]",GLIS family zinc finger 2,gene with protein product,16p13.3,Part of a fusion gene in,Assessed,[PMID:23153540],608539,ENSG00000126603,,Q9BZE0,Q9BZE0,HGNC:29450 +GARD:0021491,Orphanet,329475,ORPHA:329475,1,VCP,"[CDC48, IBMPFD, TERA, p97, transitional endoplasmic reticulum ATPase]",valosin containing protein,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22991237],601023,ENSG00000165280,,P55072,P55072,HGNC:12666 +GARD:0021492,Orphanet,329478,ORPHA:329478,1,VCP,"[CDC48, IBMPFD, TERA, p97, transitional endoplasmic reticulum ATPase]",valosin containing protein,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21684747],601023,ENSG00000165280,,P55072,P55072,HGNC:12666 +GARD:0021499,Orphanet,329967,ORPHA:329967,2,MEFV,"[FMF, TRIM20, marenostrin]","MEFV innate immuity regulator, pyrin",gene with protein product,16p13.3,Candidate gene tested in,Not yet assessed,[PMID:16802374],608107,ENSG00000103313,,O15553,O15553,HGNC:6998 +GARD:0021499,Orphanet,329967,ORPHA:329967,2,TNFRSF1A,"[CD120a, TNF-R, TNF-R-I, TNF-R55, TNFAR, TNFR60]",TNF receptor superfamily member 1A,gene with protein product,12p13.31,Candidate gene tested in,Not yet assessed,[PMID:22887853],191190,ENSG00000067182,1870,P19438,P19438,HGNC:11916 +GARD:0021505,Orphanet,330032,ORPHA:330032,2,HBD,,hemoglobin subunit delta,gene with protein product,11p15.4,Part of a fusion gene in,Assessed,[PMID:18932069],142000,ENSG00000223609,,P02042,P02042,HGNC:4829 +GARD:0021505,Orphanet,330032,ORPHA:330032,2,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Part of a fusion gene in,Assessed,[PMID:18932069],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0021521,Orphanet,352530,ORPHA:352530,1,TRAPPC9,"[IKBKBBP, KIAA1882, MRT13, NIBP, T1, TRAPP 120 kDa subunit, TRS120, tularik gene 1]",trafficking protein particle complex subunit 9,gene with protein product,8q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22549410],611966,ENSG00000167632,,Q96Q05,Q96Q05,HGNC:30832 +GARD:0021522,Orphanet,352587,ORPHA:352587,1,TBC1D24,"[DFNA65, KIAA1171, TBC/LysM-associated domain containing 6, TLDC6, skywalker homolog (Drosophila)]",TBC1 domain family member 24,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23517570],613577,ENSG00000162065,,Q9ULP9,Q9ULP9,HGNC:29203 +GARD:0021525,Orphanet,352641,ORPHA:352641,1,GBA2,"[AD035, Bile acid beta-glucosidase, DKFZp762K054, KIAA1605, Non-lysosomal glucosylceramidase, bile acid beta-glucosidase, glucocerebrosidase 2, non-lysosomal glucosylceramidase]",glucosylceramidase beta 2,gene with protein product,9p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23332917],609471,ENSG00000070610,,Q9HCG7,Q9HCG7,HGNC:18986 +GARD:0021526,Orphanet,352665,ORPHA:352665,1,HNRNPK,"[CSBP, TUNP, transformation upregulated nuclear protein]",heterogeneous nuclear ribonucleoprotein K,gene with protein product,9q21.32,Role in the phenotype of,Assessed,"[PMID:24501764, PMID:25348648, PMID:26173930]",600712,ENSG00000165119,,P61978,P61978,HGNC:5044 +GARD:0021527,Orphanet,352723,ORPHA:352723,1,LYST,"[CHS, Mauve]",lysosomal trafficking regulator,gene with protein product,1q42.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23521865],606897,ENSG00000143669,,Q99698,,HGNC:1968 +GARD:0021529,Orphanet,352734,ORPHA:352734,1,TYR,"[OCA1, OCA1A, OCAIA, oculocutaneous albinism IA]",tyrosinase,gene with protein product,11q14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301345],606933,ENSG00000077498,2643,P14679,P14679,HGNC:12442 +GARD:0021552,Orphanet,363549,ORPHA:363549,1,ADORA2A,[RDC8],adenosine A2a receptor,gene with protein product,22q11.23,Major susceptibility factor in,Assessed,[PMID:23535492],102776,ENSG00000128271,19,P29274,P29274,HGNC:263 +GARD:0021555,Orphanet,363618,ORPHA:363618,1,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:23666920],150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0021559,Orphanet,363965,ORPHA:363965,1,KANSL1,"[CENP-36, Centromere protein 36, DKFZP727C091, MSL1v1, NSL1, centromere protein 36]",KAT8 regulatory NSL complex subunit 1,gene with protein product,17q21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301783, PMID:22544363, PMID:22544367]",612452,ENSG00000120071,,Q7Z3B3,Q7Z3B3,HGNC:24565 +GARD:0021560,Orphanet,363969,ORPHA:363969,1,TMPRSS4,"[CAP2, MT-SP2, Membrane-type serine protease 2, TMPRSS3, Transmembrane serine protease 3, Type II membrane serine protease, channel-activating serine protease 2, membrane-type serine protease 2, transmembrane serine protease 3, type II membrane serine protease]",transmembrane serine protease 4,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23957953],606565,ENSG00000137648,,Q9NRS4,Q9NRS4,HGNC:11878 +GARD:0021564,Orphanet,364043,ORPHA:364043,1,ALK,[CD246],ALK receptor tyrosine kinase,gene with protein product,2p23.2-p23.1,Part of a fusion gene in,Not yet assessed,,105590,ENSG00000171094,1839,Q9UM73,Q9UM73,HGNC:427 +GARD:0021565,Orphanet,364055,ORPHA:364055,4,SPATA7,[HSD3],spermatogenesis associated 7,gene with protein product,14q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21310915],609868,ENSG00000042317,,Q9P0W8,,HGNC:20423 +GARD:0021565,Orphanet,364055,ORPHA:364055,4,LRAT,"[LCA14, phosphatidylcholine--retinol O-acyltransferase]",lecithin retinol acyltransferase,gene with protein product,4q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22570351],604863,ENSG00000121207,,O95237,O95237,HGNC:6685 +GARD:0021565,Orphanet,364055,ORPHA:364055,4,RPE65,"[BCO family, member 3, BCO3, LCA2, all-trans-retinyl-palmitate hydrolase, rd12, retinol isomerase]",retinoid isomerohydrolase RPE65,gene with protein product,1p31.3,Disease-causing germline mutation(s) in,Assessed,,180069,ENSG00000116745,,Q16518,Q16518,HGNC:10294 +GARD:0021565,Orphanet,364055,ORPHA:364055,4,LCA5,,lebercilin LCA5,gene with protein product,6q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23946133],611408,ENSG00000135338,,Q86VQ0,Q86VQ0,HGNC:31923 +GARD:0021579,Orphanet,369847,ORPHA:369847,1,TRAPPC11,"[FLJ12716, foie gras homolog (zebrafish), foigr, gry, gryzun homolog (Drosophila)]",trafficking protein particle complex subunit 11,gene with protein product,4q35.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23830518],614138,ENSG00000168538,,Q7Z392,Q7Z392,HGNC:25751 +GARD:0021580,Orphanet,369873,ORPHA:369873,1,SIM1,[bHLHe14],SIM bHLH transcription factor 1,gene with protein product,6q16.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23778136, PMID:23778139]",603128,ENSG00000112246,,P81133,,HGNC:10882 +GARD:0021581,Orphanet,369881,ORPHA:369881,2,PREPL,[KIAA0436],prolyl endopeptidase like,gene with protein product,2p21,Role in the phenotype of,Assessed,[PMID:23794250],609557,ENSG00000138078,2870,Q4J6C6,,HGNC:30228 +GARD:0021581,Orphanet,369881,ORPHA:369881,2,CAMKMT,"[CLNMT, CaM KMT]",calmodulin-lysine N-methyltransferase,gene with protein product,2p21,Role in the phenotype of,Assessed,[PMID:23794250],609559,ENSG00000143919,,Q7Z624,Q7Z624,HGNC:26276 +GARD:0021588,Orphanet,370026,ORPHA:370026,2,KAT6A,"[MOZ, Monocytic leukemia zinc finger protein, ZC2HC6A]",lysine acetyltransferase 6A,gene with protein product,8p11.21,Part of a fusion gene in,Assessed,"[PMID:18698081, PMID:23974201]",601408,ENSG00000083168,2665,Q92794,Q92794,HGNC:13013 +GARD:0021588,Orphanet,370026,ORPHA:370026,2,CREBBP,"[CBP, KAT3A, RTS]",CREB binding protein,gene with protein product,16p13.3,Part of a fusion gene in,Assessed,"[PMID:18698081, PMID:23974201]",600140,ENSG00000005339,2734,Q92793,Q92793,HGNC:2348 +GARD:0021597,Orphanet,370109,ORPHA:370109,1,ATM,"[TEL1, TEL1, telomere maintenance 1, homolog (S. cerevisiae), TELO1]",ATM serine/threonine kinase,gene with protein product,11q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23946315],607585,ENSG00000149311,1934,Q13315,Q13315,HGNC:795 +GARD:0021599,Orphanet,370930,ORPHA:370930,1,XYLT1,"[PXYLT1, XT-I, protein xylosyltransferase 1]",xylosyltransferase 1,gene with protein product,16p12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23982343],608124,ENSG00000103489,,Q86Y38,Q86Y38,HGNC:15516 +GARD:0021619,Orphanet,391316,ORPHA:391316,1,TNK2,"[ACK, ACK1, activated Cdc42-associated kinase 1, p21cdc42Hs]",tyrosine kinase non receptor 2,gene with protein product,3q29,Disease-causing germline mutation(s) in,Assessed,[PMID:23686771],606994,ENSG00000061938,2246,Q07912,Q07912,HGNC:19297 +GARD:0021620,Orphanet,391343,ORPHA:391343,1,PRF1,"[HPLH2, P1, PFP, Perforin, perforin 1 (preforming protein)]",perforin 1,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23443029],170280,ENSG00000180644,3100,P14222,,HGNC:9360 +GARD:0021621,Orphanet,391366,ORPHA:391366,1,SH2B3,"[IDDM20, LNK, lymphocyte adaptor protein]",SH2B adaptor protein 3,gene with protein product,12q24.12,Disease-causing germline mutation(s) in,Assessed,[PMID:23908464],605093,ENSG00000111252,,Q9UQQ2,Q9UQQ2,HGNC:29605 +GARD:0021623,Orphanet,391490,ORPHA:391490,3,TNFRSF11A,"[CD265, FEO, ODFR, RANK, TRANCE receptor, TRANCE-R, familial expansile osteolysis, osteoclast differentiation factor receptor, receptor activator of nuclear factor kappa B]",TNF receptor superfamily member 11a,gene with protein product,18q21.33,Major susceptibility factor in,Assessed,[PMID:25643325],603499,ENSG00000141655,1881,Q9Y6Q6,Q9Y6Q6,HGNC:11908 +GARD:0021623,Orphanet,391490,ORPHA:391490,3,CTLA4,"[CD, CD152, CTLA-4, GSE]",cytotoxic T-lymphocyte associated protein 4,gene with protein product,2q33.2,Major susceptibility factor in,Assessed,[PMID:25643325],123890,ENSG00000163599,2743,P16410,P16410,HGNC:2505 +GARD:0021623,Orphanet,391490,ORPHA:391490,3,HLA-DQA1,[CELIAC1],"major histocompatibility complex, class II, DQ alpha 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,[PMID:25643325],146880,ENSG00000196735,,P01909,P01909,HGNC:4942 +GARD:0021632,Orphanet,397606,ORPHA:397606,1,PRNP,"[AltPrP, CD230, Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, PRP, fatal familial insomnia, p27-30]",prion protein,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,[PMID:24224623],176640,ENSG00000171867,,P04156,P04156,HGNC:9449 +GARD:0021634,Orphanet,397750,ORPHA:397750,2,MT-ATP8,"[A6L, ATP8, URFA6L, mitochondrially encoded ATP synthase membrane subunit A6L]",mitochondrially encoded ATP synthase membrane subunit 8,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:24153443],516070,ENSG00000228253,809,P03928,P03928,HGNC:7415 +GARD:0021634,Orphanet,397750,ORPHA:397750,2,MT-ATP6,"[ATP6, ATPase-6, Su6m, mitochondrially encoded ATP synthase membrane subunit a]",mitochondrially encoded ATP synthase membrane subunit 6,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:24153443],516060,ENSG00000198899,801,P00846,P00846,HGNC:7414 +GARD:0021635,Orphanet,397755,ORPHA:397755,1,CACNA1S,"[Cav1.1, hypoPP]",calcium voltage-gated channel subunit alpha1 S,gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24240197],114208,ENSG00000081248,528,Q13698,Q13698,HGNC:1397 +GARD:0021637,Orphanet,397922,ORPHA:397922,1,PIGA,"[GPI3, paroxysmal nocturnal hemoglobinuria, phosphatidylinositol N-acetylglucosaminyltransferase]",phosphatidylinositol glycan anchor biosynthesis class A,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24259288],311770,ENSG00000165195,,P37287,P37287,HGNC:8957 +GARD:0021642,Orphanet,398079,ORPHA:398079,1,SIM1,[bHLHe14],SIM bHLH transcription factor 1,gene with protein product,6q16.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23778136],603128,ENSG00000112246,,P81133,,HGNC:10882 +GARD:0021655,Orphanet,399081,ORPHA:399081,1,KLHL9,"[FLJ13568, KIAA1354]",kelch like family member 9,gene with protein product,9p21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20554658],611201,ENSG00000198642,,Q9P2J3,Q9P2J3,HGNC:18732 +GARD:0021656,Orphanet,399103,ORPHA:399103,1,NEB,"[NEB177D, nemaline myopathy type 2]",nebulin,gene with protein product,2q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17525139],161650,ENSG00000183091,,P20929,P20929,HGNC:7720 +GARD:0021695,Orphanet,401795,ORPHA:401795,1,USP8,"[HumORF8, KIAA0055, SPG59, UBPY]",ubiquitin specific peptidase 8,gene with protein product,15q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24482476],603158,ENSG00000138592,,P40818,P40818,HGNC:12631 +GARD:0021696,Orphanet,401800,ORPHA:401800,1,WDR48,"[Bun62, KIAA1449, P80, SPG60]",WD repeat domain 48,gene with protein product,3p22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24482476],612167,ENSG00000114742,,Q8TAF3,Q8TAF3,HGNC:30914 +GARD:0021697,Orphanet,401815,ORPHA:401815,1,ARSI,"[FLJ16069, SPG66]",arylsulfatase family member I,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,[PMID:24482476],610009,ENSG00000183876,,Q5FYB1,Q5FYB1,HGNC:32521 +GARD:0021698,Orphanet,401820,ORPHA:401820,1,PGAP1,"[Bst1, FLJ12377, GPI inositol-deacylase, SPG67]",post-GPI attachment to proteins inositol deacylase 1,gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24482476],611655,ENSG00000197121,,Q75T13,Q75T13,HGNC:25712 +GARD:0021699,Orphanet,401830,ORPHA:401830,1,RAB3GAP2,"[DKFZP434D245, KIAA0839, RAB3-GAP150, SPG69]",RAB3 GTPase activating non-catalytic protein subunit 2,gene with protein product,1q41,Disease-causing germline mutation(s) in,Assessed,[PMID:24482476],609275,ENSG00000118873,,Q9H2M9,Q9H2M9,HGNC:17168 +GARD:0021700,Orphanet,401835,ORPHA:401835,1,MARS1,"[CMT2U, MetRS, SPG70, methionine tRNA ligase 1, cytoplasmic]",methionyl-tRNA synthetase 1,gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24482476],156560,ENSG00000166986,,P56192,P56192,HGNC:6898 +GARD:0021701,Orphanet,401840,ORPHA:401840,1,ZFR,"[SPG71, ZFR1]",zinc finger RNA binding protein,gene with protein product,5p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24482476],615635,ENSG00000056097,,Q96KR1,,HGNC:17277 +GARD:0021702,Orphanet,401901,ORPHA:401901,1,C9ORF72,"[DENND9, DENNL72, MGC23980]",C9orf72-SMCR8 complex subunit,gene with protein product,9p21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24363131],614260,ENSG00000147894,,Q96LT7,,HGNC:28337 +GARD:0021703,Orphanet,401911,ORPHA:401911,1,AXIN2,"[DKFZp781B0869, MGC126582, axil, conductin]",axin 2,gene with protein product,17q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23838596],604025,ENSG00000168646,,Q9Y2T1,Q9Y2T1,HGNC:904 +GARD:0021704,Orphanet,401920,ORPHA:401920,2,DNAJB1,"[Hsp40, RSPH16B, Sis1, radial spoke 16 homolog B (Chlamydomonas)]",DnaJ heat shock protein family (Hsp40) member B1,gene with protein product,19p13.12,Part of a fusion gene in,Assessed,[PMID:24578576],604572,ENSG00000132002,,P25685,P25685,HGNC:5270 +GARD:0021704,Orphanet,401920,ORPHA:401920,2,PRKACA,[PKACa],protein kinase cAMP-activated catalytic subunit alpha,gene with protein product,19p13.12,Part of a fusion gene in,Assessed,[PMID:24578576],601639,ENSG00000072062,1476,P17612,P17612,HGNC:9380 +GARD:0021707,Orphanet,401959,ORPHA:401959,1,KPNA7,"[IPOA8, importin alpha 8]",karyopherin subunit alpha 7,gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24045845],614107,ENSG00000185467,,A9QM74,A9QM74,HGNC:21839 +GARD:0021710,Orphanet,402014,ORPHA:402014,2,NUP214,"[CAIN, CAN, CAN protein, putative oncogene, D9S46E, N214, nuclear pore complex protein Nup214]",nucleoporin 214,gene with protein product,9q34.13,Part of a fusion gene in,Assessed,[PMID:19357394],114350,ENSG00000126883,,P35658,P35658,HGNC:8064 +GARD:0021710,Orphanet,402014,ORPHA:402014,2,DEK,[D6S231E],DEK proto-oncogene,gene with protein product,6p22.3,Part of a fusion gene in,Assessed,[PMID:19357394],125264,ENSG00000124795,,P35659,P35659,HGNC:2768 +GARD:0021711,Orphanet,402017,ORPHA:402017,2,KMT2A,"[ALL-1, CXXC7, HRX, HTRX1, Histone-lysine N-methyltransferase 2A, MLL1A, TRX1]",lysine methyltransferase 2A,gene with protein product,11q23.3,Part of a fusion gene in,Assessed,[PMID:19357394],159555,ENSG00000118058,2688,Q03164,Q03164,HGNC:7132 +GARD:0021711,Orphanet,402017,ORPHA:402017,2,MLLT3,"[AF-9, AF9, YEATS3]",MLLT3 super elongation complex subunit,gene with protein product,9p21.3,Part of a fusion gene in,Assessed,[PMID:19357394],159558,ENSG00000171843,,P42568,P42568,HGNC:7136 +GARD:0021712,Orphanet,402023,ORPHA:402023,2,RBM15,"[OTT, OTT1, one twenty-two]",RNA binding motif protein 15,gene with protein product,1p13.3,Part of a fusion gene in,Assessed,[PMID:19357394],606077,ENSG00000162775,,Q96T37,,HGNC:14959 +GARD:0021712,Orphanet,402023,ORPHA:402023,2,MRTFA,"[BSAC, KIAA1438, MAL, MKL, MRTF-A, basic, SAP and coiled-coil domain, megakaryocytic acute leukemia, myocardin-related transcription factor A]",myocardin related transcription factor A,gene with protein product,22q13.1-q13.2,Part of a fusion gene in,Assessed,[PMID:19357394],606078,ENSG00000196588,,Q969V6,Q969V6,HGNC:14334 +GARD:0021713,Orphanet,402026,ORPHA:402026,1,NPM1,"['nucleophosmin/nucleoplasmin family, member 1', B23, NPM, Nucleophosmin/nucleoplasmin family, member 1, Numatrin, nucleolar phosphoprotein B23, numatrin]",nucleophosmin 1,gene with protein product,5q35.1,Disease-causing somatic mutation(s) in,Assessed,"[PMID:19357394, PMID:23301224]",164040,ENSG00000181163,,P06748,P06748,HGNC:7910 +GARD:0021717,Orphanet,404451,ORPHA:404451,1,FBLN1,[FBLN],fibulin 1,gene with protein product,22q13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:24084572],135820,ENSG00000077942,,P23142,P23142,HGNC:3600 +GARD:0021720,Orphanet,404507,ORPHA:404507,1,GRM1,"[GPRC1A, MGLUR1, PPP1R85, mGlu1, protein phosphatase 1, regulatory subunit 85]",glutamate metabotropic receptor 1,gene with protein product,6q24.3,Part of a fusion gene in,Assessed,[PMID:24658000],604473,ENSG00000152822,289,Q13255,Q13255,HGNC:4593 +GARD:0021721,Orphanet,404511,ORPHA:404511,4,TMEM127,"[FLJ20507, FLJ22257]",transmembrane protein 127,gene with protein product,2q11.2,Major susceptibility factor in,Assessed,[PMID:24334765],613403,ENSG00000135956,,O75204,,HGNC:26038 +GARD:0021721,Orphanet,404511,ORPHA:404511,4,MITF,"[MI, bHLHe32, homolog of mouse microphthalmia]",melanocyte inducing transcription factor,gene with protein product,3p13,Major susceptibility factor in,Assessed,[PMID:22012259],156845,ENSG00000187098,,O75030,O75030,HGNC:7105 +GARD:0021721,Orphanet,404511,ORPHA:404511,4,HNF1A,"[HNF1, HNF1a, LFB1]",HNF1 homeobox A,gene with protein product,12q24.31,Biomarker tested in,Not yet assessed,"[PMID:15649945, PMID:8620471]",142410,ENSG00000135100,,P20823,P20823,HGNC:11621 +GARD:0021721,Orphanet,404511,ORPHA:404511,4,PBRM1,"[BAF180, PB1, SMARCH1]",polybromo 1,gene with protein product,3p21.1,Major susceptibility factor in,Assessed,[PMID:25911086],606083,ENSG00000163939,2738,Q86U86,Q86U86,HGNC:30064 +GARD:0021723,Orphanet,404521,ORPHA:404521,1,LAS1L,"[FLJ12525, Las1]",LAS1 like ribosome biogenesis factor,gene with protein product,Xq12,Disease-causing germline mutation(s) in,Assessed,[PMID:24647030],300964,ENSG00000001497,,Q9Y4W2,Q9Y4W2,HGNC:25726 +GARD:0021732,Orphanet,411511,ORPHA:411511,1,UBE3A,"[ANCR, AS, Angelman syndrome, E6-AP, FLJ26981]",ubiquitin protein ligase E3A,gene with protein product,15q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301323, PMID:22670133, PMID:24876791, PMID:25212744]",601623,ENSG00000114062,,Q05086,Q05086,HGNC:12496 +GARD:0021733,Orphanet,411515,ORPHA:411515,3,SNRPN,"[HCERN3, RT-LI, SM protein N, SM-D, SMN, SNRNP-N, SNURF-SNRPN, small nuclear ribonucleoprotein N, tissue-specific splicing protein]",small nuclear ribonucleoprotein polypeptide N,gene with protein product,15q11.2,Role in the phenotype of,Assessed,"[PMID:17347796, PMID:20301323, PMID:22670133, PMID:24876791, PMID:25212744]",182279,ENSG00000128739,,P63162,P63162,HGNC:11164 +GARD:0021733,Orphanet,411515,ORPHA:411515,3,UBE3A,"[ANCR, AS, Angelman syndrome, E6-AP, FLJ26981]",ubiquitin protein ligase E3A,gene with protein product,15q11.2,Role in the phenotype of,Assessed,"[PMID:17347796, PMID:20301323, PMID:22670133, PMID:24876791, PMID:25212744]",601623,ENSG00000114062,,Q05086,Q05086,HGNC:12496 +GARD:0021733,Orphanet,411515,ORPHA:411515,3,ATP10A,"[ATPVA, ATPVC, KIAA0566]",ATPase phospholipid transporting 10A (putative),gene with protein product,15q12,Role in the phenotype of,Assessed,"[PMID:11326269, PMID:17347796]",605855,ENSG00000206190,862,O60312,O60312,HGNC:13542 +GARD:0021738,Orphanet,412066,ORPHA:412066,1,PRKAR1B,,protein kinase cAMP-dependent type I regulatory subunit beta,gene with protein product,7p22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:24722252, PMID:25108559]",176911,ENSG00000188191,1473,P31321,P31321,HGNC:9390 +GARD:0021746,Orphanet,420429,ORPHA:420429,1,GAA,"[Pompe disease, glycogen storage disease type II]",alpha glucosidase,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,,606800,ENSG00000171298,2611,P10253,P10253,HGNC:4065 +GARD:0021747,Orphanet,420699,ORPHA:420699,1,CXCR2,"[CD182, CMKAR2]",C-X-C motif chemokine receptor 2,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:24777453],146928,ENSG00000180871,69,P25025,P25025,HGNC:6027 +GARD:0021751,Orphanet,423306,ORPHA:423306,1,QARS1,[glutamine tRNA ligase],glutaminyl-tRNA synthetase 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:28620870],603727,ENSG00000172053,,P47897,P47897,HGNC:9751 +GARD:0021752,Orphanet,423479,ORPHA:423479,1,PRPS1,"[CMTX5, DFNX1, PRS I, ribose-phosphate diphosphokinase 1]",phosphoribosyl pyrophosphate synthetase 1,gene with protein product,Xq22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24961627],311850,ENSG00000147224,,P60891,P60891,HGNC:9462 +GARD:0021762,Orphanet,423894,ORPHA:423894,1,VRK1,,VRK serine/threonine kinase 1,gene with protein product,14q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24126608],602168,ENSG00000100749,2275,Q99986,Q99986,HGNC:12718 +GARD:0021783,Orphanet,424107,ORPHA:424107,1,RYR1,"[PPP1R137, RYR, protein phosphatase 1, regulatory subunit 137]",ryanodine receptor 1,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24951453],180901,ENSG00000196218,747,P21817,P21817,HGNC:10483 +GARD:0021815,Orphanet,435819,ORPHA:435819,1,TFG,"[FLJ36137, SPG57, TF6]",trafficking from ER to golgi regulator,gene with protein product,3q12.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25098539],602498,ENSG00000114354,,Q92734,Q92734,HGNC:11758 +GARD:0021818,Orphanet,436144,ORPHA:436144,1,CDKN1C,"[KIP2, P57]",cyclin dependent kinase inhibitor 1C,gene with protein product,11p15.4,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25057881],600856,ENSG00000129757,,P49918,P49918,HGNC:1786 +GARD:0021819,Orphanet,436271,ORPHA:436271,1,COA8,"[APOP-1, MGC2562, apoptogenic protein 1]",cytochrome c oxidase assembly factor 8,gene with protein product,14q32.33,Disease-causing germline mutation(s) in,Assessed,[PMID:25175347],616003,ENSG00000256053,,Q96IL0,,HGNC:20492 +GARD:0021820,Orphanet,436274,ORPHA:436274,1,GGCX,"[VKCFD1, peptidyl-glutamate 4-carboxylase, vitamin K-dependent gamma-carboxylase]",gamma-glutamyl carboxylase,gene with protein product,2p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24739904],137167,ENSG00000115486,1268,P38435,P38435,HGNC:4247 +GARD:0021838,Orphanet,440354,ORPHA:440354,1,COL11A1,"[CO11A1, STL2, collagen XI, alpha-1 polypeptide]",collagen type XI alpha 1 chain,gene with protein product,1p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25091507],120280,ENSG00000060718,,P12107,P12107,HGNC:2186 +GARD:0021840,Orphanet,440437,ORPHA:440437,3,BMPR1A,"[ALK3, CD292]",bone morphogenetic protein receptor type 1A,gene with protein product,10q23.2,Candidate gene tested in,Not yet assessed,[PMID:21640116],601299,ENSG00000107779,1786,P36894,P36894,HGNC:1076 +GARD:0021840,Orphanet,440437,ORPHA:440437,3,RPS20,"[S20, uS10]",ribosomal protein S20,gene with protein product,8q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24941021],603682,ENSG00000008988,,P60866,P60866,HGNC:10405 +GARD:0021840,Orphanet,440437,ORPHA:440437,3,SEMA4A,"[CORD10, FLJ12287, SemB]",semaphorin 4A,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:25307848],607292,ENSG00000196189,,Q9H3S1,Q9H3S1,HGNC:10729 +GARD:0021846,Orphanet,441447,ORPHA:441447,5,CHMP4B,"[SNF7-2, Shax1, VPS32B, dJ553F4.4]",charged multivesicular body protein 4B,gene with protein product,20q11.22,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:17701905],610897,ENSG00000101421,,Q9H444,Q9H444,HGNC:16171 +GARD:0021846,Orphanet,441447,ORPHA:441447,5,UNC45B,[UNC45],unc-45 myosin chaperone B,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:24549050],611220,ENSG00000141161,,Q8IWX7,Q8IWX7,HGNC:14304 +GARD:0021846,Orphanet,441447,ORPHA:441447,5,EPHA2,,EPH receptor A2,gene with protein product,1p36.13,Disease-causing germline mutation(s) in,Assessed,[PMID:24014202],176946,ENSG00000142627,1822,P29317,P29317,HGNC:3386 +GARD:0021846,Orphanet,441447,ORPHA:441447,5,CRYBB2,,crystallin beta B2,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:21245961],123620,ENSG00000244752,,P43320,,HGNC:2398 +GARD:0021846,Orphanet,441447,ORPHA:441447,5,LEMD2,"[LEM2, NET25, dJ482C21.1, lamina-associated polypeptide-emerin-MAN1 domain containing 2]",LEM domain nuclear envelope protein 2,gene with protein product,6p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:26788539],616312,ENSG00000161904,,Q8NC56,Q8NC56,HGNC:21244 +GARD:0021852,Orphanet,443167,ORPHA:443167,2,NUTM1,"[DKFZp434O192, FAM22H, NUT, nuclear protein in testis]",NUT midline carcinoma family member 1,gene with protein product,15q14,Part of a fusion gene in,Assessed,[PMID:22017582],608963,ENSG00000184507,,Q86Y26,Q86Y26,HGNC:29919 +GARD:0021852,Orphanet,443167,ORPHA:443167,2,BRD4,"[CAP, HUNK1, HUNKI, MCAP, chromosome-associated protein, mitotic chromosome-associated protein]",bromodomain containing 4,gene with protein product,19p13.12,Part of a fusion gene in,Assessed,[PMID:22017582],608749,ENSG00000141867,1945,O60885,O60885,HGNC:13575 +GARD:0021864,Orphanet,447731,ORPHA:447731,1,MAP3K14,"[FTDCR1B, HS, HSNIK, NIK, serine/threonine protein-kinase]",mitogen-activated protein kinase kinase kinase 14,gene with protein product,17q21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25406581],604655,ENSG00000006062,2074,Q99558,Q99558,HGNC:6853 +GARD:0021865,Orphanet,447740,ORPHA:447740,1,FPR1,"[FMLP, FPR]",formyl peptide receptor 1,gene with protein product,19q13.41,Disease-causing germline mutation(s) in,Assessed,[PMID:19722801],136537,ENSG00000171051,222,P21462,P21462,HGNC:3826 +GARD:0021866,Orphanet,447757,ORPHA:447757,1,ALDH18A1,"[P5CS, delta-1-pyrroline-5-carboxylate synthase]",aldehyde dehydrogenase 18 family member A1,gene with protein product,10q24.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26026163],138250,ENSG00000059573,,P54886,P54886,HGNC:9722 +GARD:0021872,Orphanet,447795,ORPHA:447795,1,LIPT2,,lipoyl(octanoyl) transferase 2,gene with protein product,11q13.4,Candidate gene tested in,Not yet assessed,,617659,ENSG00000175536,,A6NK58,A6NK58,HGNC:37216 +GARD:0021875,Orphanet,447980,ORPHA:447980,1,NFIX,"[CCAAT-binding transcription factor, NF1A]",nuclear factor I X,gene with protein product,19p13.13,Role in the phenotype of,Assessed,[PMID:29184170],164005,ENSG00000008441,,Q14938,Q14938,HGNC:7788 +GARD:0021890,Orphanet,453510,ORPHA:453510,1,CLTCL1,"[CHC22, CLH22, CLTD]",clathrin heavy chain like 1,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:26068709],601273,ENSG00000070371,,P53675,P53675,HGNC:2093 +GARD:0021899,Orphanet,456333,ORPHA:456333,1,IPMK,,inositol polyphosphate multikinase,gene with protein product,10q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25865046],609851,ENSG00000151151,,Q8NFU5,Q8NFU5,HGNC:20739 +GARD:0021905,Orphanet,457246,ORPHA:457246,6,TERT,"[EST2, TCS1, TP2, TRT, hEST2]",telomerase reverse transcriptase,gene with protein product,5p15.33,Part of a fusion gene in,Assessed,"[PMID:25481751, PMID:26493387]",187270,ENSG00000164362,,O14746,O14746,HGNC:11730 +GARD:0021905,Orphanet,457246,ORPHA:457246,6,BCOR,"[BCL-6 coreceptor, BCL6 interacting corepressor, FLJ20285, KIAA1575]",BCL6 corepressor,gene with protein product,Xp11.4,Disease-causing somatic mutation(s) in,Assessed,[PMID:26098867],300485,ENSG00000183337,,Q6W2J9,Q6W2J9,HGNC:20893 +GARD:0021905,Orphanet,457246,ORPHA:457246,6,IRX2,,iroquois homeobox 2,gene with protein product,5p15.33,Part of a fusion gene in,Assessed,"[PMID:25481751, PMID:26493387]",606198,ENSG00000170561,,Q9BZI1,,HGNC:14359 +GARD:0021905,Orphanet,457246,ORPHA:457246,6,NUTM2E,,NUT family member 2E,gene with protein product,10q22.3,Part of a fusion gene in,Assessed,[PMID:22294382],,ENSG00000228570,,B1AL46,,HGNC:23448 +GARD:0021905,Orphanet,457246,ORPHA:457246,6,YWHAE,"[14-3-3 epsilon, FLJ45465]",tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon,gene with protein product,17p13.3,Part of a fusion gene in,Assessed,[PMID:22294382],605066,ENSG00000108953,,P62258,P62258,HGNC:12851 +GARD:0021905,Orphanet,457246,ORPHA:457246,6,NUTM2B,[bA119F19.1],NUT family member 2B,gene with protein product,10q22.3,Part of a fusion gene in,Assessed,[PMID:22294382],,ENSG00000188199,,A6NNL0,,HGNC:23445 +GARD:0021926,Orphanet,464311,ORPHA:464311,1,DYRK1A,,dual specificity tyrosine phosphorylation regulated kinase 1A,gene with protein product,21q22.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:25641759, PMID:25944381, PMID:26677511]",600855,ENSG00000157540,2009,Q13627,Q13627,HGNC:3091 +GARD:0021929,Orphanet,464370,ORPHA:464370,1,FCGR3B,"[CD16, CD16b, Fc gamma receptor IIIb]",Fc fragment of IgG receptor IIIb,gene with protein product,1q23.3,Biomarker tested in,Assessed,,610665,ENSG00000162747,,O75015,O75015,HGNC:3620 +GARD:0021932,Orphanet,464756,ORPHA:464756,1,ATP4A,"[ATP6A, H(+)-K(+)-ATPase alpha subunit, gastric H,K-ATPase alpha subunit, proton pump]",ATPase H+/K+ transporting subunit alpha,gene with protein product,19q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:25678551],137216,ENSG00000105675,849,P20648,P20648,HGNC:819 +GARD:0021936,Orphanet,466650,ORPHA:466650,1,RYR1,"[PPP1R137, RYR, protein phosphatase 1, regulatory subunit 137]",ryanodine receptor 1,gene with protein product,19q13.2,Major susceptibility factor in,Assessed,[PMID:23628358],180901,ENSG00000196218,747,P21817,P21817,HGNC:10483 +GARD:0021942,Orphanet,466921,ORPHA:466921,1,TTN,"[CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD]",titin,gene with protein product,2q31.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26581302],188840,ENSG00000155657,2265,Q8WZ42,Q8WZ42,HGNC:12403 +GARD:0021943,Orphanet,466962,ORPHA:466962,1,SMARCA4,"[ATP-dependent helicase SMARCA4, BAF190, BRG1, BRM/SWI2-related gene 1, FLJ39786, SNF2, SNF2-BETA, SNF2-like 4, SNF2LB, SWI2, brahma protein-like 1, global transcription activator homologous sequence, hSNF2b, homeotic gene regulator, mitotic growth and transcription activator, nuclear protein GRB1, sucrose nonfermenting-like 4]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4",gene with protein product,19p13.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:26343384],603254,ENSG00000127616,2740,P51532,P51532,HGNC:11100 +GARD:0021944,Orphanet,467166,ORPHA:467166,3,TUBB2B,"[DKFZp566F223, MGC8685, bA506K6.1, class IIb beta-tubulin]",tubulin beta 2B class IIb,gene with protein product,6p25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26130693],612850,ENSG00000137285,,Q9BVA1,Q9BVA1,HGNC:30829 +GARD:0021944,Orphanet,467166,ORPHA:467166,3,TUBA1A,"['tubulin, alpha, brain-specific', B-ALPHA-1, FLJ25113, TUBA3, Tubulin, alpha, brain-specific]",tubulin alpha 1a,gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:26130693],602529,ENSG00000167552,2638,Q71U36,Q71U36,HGNC:20766 +GARD:0021944,Orphanet,467166,ORPHA:467166,3,TUBB3,"[CFEOM3, CFEOM3A, beta-4, class III beta-tubulin]",tubulin beta 3 class III,gene with protein product,16q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26130693],602661,ENSG00000258947,2752,Q13509,Q13509,HGNC:20772 +GARD:0021945,Orphanet,468635,ORPHA:468635,1,PLA2G4A,[cPLA2-alpha],phospholipase A2 group IVA,gene with protein product,1q31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23268370],600522,ENSG00000116711,1424,P47712,P47712,HGNC:9035 +GARD:0021946,Orphanet,468641,ORPHA:468641,1,SLCO2A1,"[OATP2A1, PGT]",solute carrier organic anion transporter family member 2A1,gene with protein product,3q22.1-q22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26539716],601460,ENSG00000174640,1223,Q92959,Q92959,HGNC:10955 +GARD:0021949,Orphanet,476093,ORPHA:476093,1,HSPB8,"[CMT2L, E2IG1, H11, HSP22, HspB8]",heat shock protein family B (small) member 8,gene with protein product,12q24.23,Disease-causing germline mutation(s) in,Assessed,[PMID:26718575],608014,ENSG00000152137,,Q9UJY1,Q9UJY1,HGNC:30171 +GARD:0021950,Orphanet,476096,ORPHA:476096,1,DSP,"[DPI, DPII, KPPS2, PPKS2]",desmoplakin,gene with protein product,6p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26604139],125647,ENSG00000096696,,P15924,P15924,HGNC:3052 +GARD:0021953,Orphanet,476119,ORPHA:476119,1,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25782671],600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0021956,Orphanet,476406,ORPHA:476406,1,TPM3,[TRK],tropomyosin 3,gene with protein product,1q21.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26418456],191030,ENSG00000143549,,P06753,P06753,HGNC:12012 +GARD:0021959,Orphanet,477742,ORPHA:477742,2,MYH9,"[EPSTS, FTNS, MHA, NMHC-II-A, NMMHCA, nonmuscle myosin heavy chain II-A]",myosin heavy chain 9,gene with protein product,22q12.3,Part of a fusion gene in,Assessed,[PMID:21826056],160775,ENSG00000100345,,P35579,P35579,HGNC:7579 +GARD:0021959,Orphanet,477742,ORPHA:477742,2,USP6,"[TBC1D3 and USP32 fusion, TRE17, Tre-2, Tre-2 oncogene, Tre2, ubiquitin carboxyl-terminal hydrolase 6]",ubiquitin specific peptidase 6,gene with protein product,17p13.2,Part of a fusion gene in,Assessed,[PMID:21826056],604334,ENSG00000129204,,P35125,,HGNC:12629 +GARD:0021972,Orphanet,480491,ORPHA:480491,1,MYO5B,[KIAA1119],myosin VB,gene with protein product,18q,Disease-causing germline mutation(s) in,Assessed,[PMID:27532546],606540,ENSG00000167306,,Q9ULV0,Q9ULV0,HGNC:7603 +GARD:0021978,Orphanet,480528,ORPHA:480528,1,PLAT,,"plasminogen activator, tissue type",gene with protein product,8p11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:27417437, PMID:6401391, PMID:665314, PMID:6890710]",173370,ENSG00000104368,2392,P00750,P00750,HGNC:9051 +GARD:0021980,Orphanet,480541,ORPHA:480541,3,BCL6,"[BCL5, BCL6A, LAZ3, ZBTB27]",BCL6 transcription repressor,gene with protein product,3q27.3,Part of a fusion gene in,Assessed,"[PMID:21119107, PMID:27717585, PMID:27888878]",109565,ENSG00000113916,2957,P41182,P41182,HGNC:1001 +GARD:0021980,Orphanet,480541,ORPHA:480541,3,MYC,"[MYCC, bHLHe39, c-Myc]","MYC proto-oncogene, bHLH transcription factor",gene with protein product,8q24.21,Part of a fusion gene in,Assessed,"[PMID:21119107, PMID:27717585, PMID:27888878]",190080,ENSG00000136997,,P01106,P01106,HGNC:7553 +GARD:0021980,Orphanet,480541,ORPHA:480541,3,BCL2,"[Bcl-2, PPP1R50, protein phosphatase 1, regulatory subunit 50]",BCL2 apoptosis regulator,gene with protein product,18q21.33,Part of a fusion gene in,Assessed,"[PMID:21119107, PMID:27717585, PMID:27888878]",151430,ENSG00000171791,2844,P10415,P10415,HGNC:990 +GARD:0021983,Orphanet,480556,ORPHA:480556,1,DCDC2,"[DCDC2A, KIAA1154, NPHP19, RU2, nephronophthisis 19]",doublecortin domain containing 2,gene with protein product,6p22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:27319779, PMID:27469900]",605755,ENSG00000146038,,Q9UHG0,Q9UHG0,HGNC:18141 +GARD:0021990,Orphanet,482606,ORPHA:482606,1,FLNA,"[ABP-280, actin binding protein 280, alpha filamin]",filamin A,gene with protein product,Xq28,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26686323, PMID:26804200]",300017,ENSG00000196924,,P21333,P21333,HGNC:3754 +GARD:0021994,Orphanet,485418,ORPHA:485418,1,EMILIN1,"[DKFZp586M121, EMILIN, gp115]",elastin microfibril interfacer 1,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26462740],130660,ENSG00000138080,,Q9Y6C2,Q9Y6C2,HGNC:19880 +GARD:0021999,Orphanet,487814,ORPHA:487814,1,DGAT2,,diacylglycerol O-acyltransferase 2,gene with protein product,11q13.5,Disease-causing germline mutation(s) in,Assessed,[PMID:26786738],606983,ENSG00000062282,,Q96PD7,Q96PD7,HGNC:16940 +GARD:0022001,Orphanet,488437,ORPHA:488437,1,SIX2,,SIX homeobox 2,gene with protein product,2p21,Role in the phenotype of,Assessed,"[PMID:26581443, PMID:27920634]",604994,ENSG00000170577,,Q9NPC8,,HGNC:10888 +GARD:0022009,Orphanet,495818,ORPHA:495818,2,LMX1B,,LIM homeobox transcription factor 1 beta,gene with protein product,9q33.3,Role in the phenotype of,Assessed,[PMID:26395556],602575,ENSG00000136944,,O60663,,HGNC:6654 +GARD:0022009,Orphanet,495818,ORPHA:495818,2,STXBP1,"[MUNC18-1, UNC18, hUNC18, nSec1, rbSec1, syntaxin-binding protein 1]",syntaxin binding protein 1,gene with protein product,9q34.11,Role in the phenotype of,Assessed,[PMID:26395556],602926,ENSG00000136854,,P61764,P61764,HGNC:11444 +GARD:0022012,Orphanet,496689,ORPHA:496689,1,KY,[FLJ33207],kyphoscoliosis peptidase,gene with protein product,3q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28488683],605739,ENSG00000174611,,Q8NBH2,,HGNC:26576 +GARD:0022017,Orphanet,498251,ORPHA:498251,1,HTR1A,[5-HT1A],5-hydroxytryptamine receptor 1A,gene with protein product,5q12.3,Candidate gene tested in,Not yet assessed,[PMID:21990073],109760,ENSG00000178394,1,P08908,P08908,HGNC:5286 +GARD:0022031,Orphanet,498481,ORPHA:498481,1,LRP5,"[BMND1, EVR4, HBM, LR3, OPS, OPTA1, VBCH2]",LDL receptor related protein 5,gene with protein product,11q13.2,Major susceptibility factor in,Assessed,"[PMID:15824851, PMID:22487062]",603506,ENSG00000162337,,O75197,O75197,HGNC:6697 +GARD:0022031,Orphanet,498481,ORPHA:498481,1,LRP5,"[BMND1, EVR4, HBM, LR3, OPS, OPTA1, VBCH2]",LDL receptor related protein 5,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:15824851],603506,ENSG00000162337,,O75197,O75197,HGNC:6697 +GARD:0022034,Orphanet,498494,ORPHA:498494,1,PITX1,"[POTX, PTX1]",paired like homeodomain 1,gene with protein product,5q31.1,Role in the phenotype of,Assessed,[PMID:22258522],602149,ENSG00000069011,,P78337,P78337,HGNC:9004 +GARD:0022035,Orphanet,498693,ORPHA:498693,1,MYBPC1,"[slow skeletal-type muscle myosin-binding-protein C, ssMyBP-C]",myosin binding protein C1,gene with protein product,12q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26661508],160794,ENSG00000196091,,Q00872,Q00872,HGNC:7549 +GARD:0022047,Orphanet,502430,ORPHA:502430,1,ZNF462,"[DKFZP762N2316, KIAA1803, Zfp462]",zinc finger protein 462,gene with protein product,9q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28513610],617371,ENSG00000148143,,Q96JM2,Q96JM2,HGNC:21684 +GARD:0022050,Orphanet,505208,ORPHA:505208,1,HTRA2,"[OMI, PARK13]",HtrA serine peptidase 2,gene with protein product,2p13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:27208207, PMID:27696117]",606441,ENSG00000115317,,O43464,O43464,HGNC:14348 +GARD:0022068,Orphanet,508476,ORPHA:508476,1,HYAL2,"[LUCA2, LuCa-2, PH-20 homolog, lysosomal hyaluronidase]",hyaluronidase 2,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Not yet assessed,[PMID:28081210],603551,ENSG00000068001,,Q12891,Q12891,HGNC:5321 +GARD:0022069,Orphanet,508501,ORPHA:508501,1,IFT57,"[FLJ10147, HIPPI, MHS4R2]",intraflagellar transport 57,gene with protein product,3q13.12-q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:27060890],606621,ENSG00000114446,,Q9NWB7,Q9NWB7,HGNC:17367 +GARD:0022070,Orphanet,508533,ORPHA:508533,1,EXTL3,"[REG receptor, REGR, botv, glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase]",exostosin like glycosyltransferase 3,gene with protein product,8p21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:28132690, PMID:28148688]",605744,ENSG00000012232,,O43909,O43909,HGNC:3518 +GARD:0022071,Orphanet,508542,ORPHA:508542,1,MYSM1,[KIAA1915],"Myb like, SWIRM and MPN domains 1",gene with protein product,1p32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28115216],612176,ENSG00000162601,,Q5VVJ2,Q5VVJ2,HGNC:29401 +GARD:0022072,Orphanet,512017,ORPHA:512017,1,STAT3,[APRF],signal transducer and activator of transcription 3,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:29385279],102582,ENSG00000168610,2994,P40763,P40763,HGNC:11364 +GARD:0022074,Orphanet,512103,ORPHA:512103,1,KRT10,"[CK10, K10, cytokeratin 10, epidermolytic hyperkeratosis]",keratin 10,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21271994, PMID:23957016]",148080,ENSG00000186395,,P13645,P13645,HGNC:6413 +GARD:0022075,Orphanet,512260,ORPHA:512260,1,RNU12,"[RNA, U12 small nuclear 1, RNU12-1]","RNA, U12 small nuclear",Non-coding RNA,22q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27863452],,ENSG00000276027,,,,HGNC:19380 +GARD:0022143,Orphanet,521411,ORPHA:521411,1,SCO2,[SCO1L],synthesis of cytochrome C oxidase 2,gene with protein product,22q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:29351582],604272,ENSG00000284194,,O43819,O43819,HGNC:10604 +GARD:0022144,Orphanet,521432,ORPHA:521432,1,CYP51A1,"[CP51, CYPL1, LDM, P450-14DM, P450L1]",cytochrome P450 family 51 subfamily A member 1,gene with protein product,7q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27878435],601637,ENSG00000001630,1374,Q16850,Q16850,HGNC:2649 +GARD:0022145,Orphanet,521445,ORPHA:521445,1,ADAMTSL1,"[ADAMTSR1, FLJ35283, punctin, punctin-1]",ADAMTS like 1,gene with protein product,9p22.2-p22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28722276],609198,ENSG00000178031,,Q8N6G6,Q8N6G6,HGNC:14632 +GARD:0022146,Orphanet,521450,ORPHA:521450,1,LAMA5,,laminin subunit alpha 5,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:28735299],601033,ENSG00000130702,,O15230,O15230,HGNC:6485 +GARD:0022193,Orphanet,527468,ORPHA:527468,1,HLX,[HB24],H2.0 like homeobox,gene with protein product,1q41,Disease-causing germline mutation(s) in,Assessed,[PMID:28898547],142995,ENSG00000136630,,Q14774,Q14774,HGNC:4978 +GARD:0022199,Orphanet,529831,ORPHA:529831,1,CYP2A6,"[CPA6, CYP2A]",cytochrome P450 family 2 subfamily A member 6,gene with protein product,19q13.2,Biomarker tested in,Not yet assessed,[PMID:29194389],122720,ENSG00000255974,1321,P11509,P11509,HGNC:2610 +GARD:0022202,Orphanet,529962,ORPHA:529962,2,BPTF,"[FAC1, NURF301]",bromodomain PHD finger transcription factor,gene with protein product,17q24.2,Role in the phenotype of,Assessed,"[PMID:28465847, PMID:29696806]",601819,ENSG00000171634,2723,Q12830,Q12830,HGNC:3581 +GARD:0022202,Orphanet,529962,ORPHA:529962,2,PSMD12,"[Rpn5, p55]","proteasome 26S subunit, non-ATPase 12",gene with protein product,17q24.2,Role in the phenotype of,Assessed,"[PMID:28465847, PMID:29696806]",604450,ENSG00000197170,,O00232,O00232,HGNC:9557 +GARD:0022204,Orphanet,529977,ORPHA:529977,1,RIPK1,"[RIP, receptor-interacting protein kinase 1]",receptor interacting serine/threonine kinase 1,gene with protein product,6p25.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30026316],603453,ENSG00000137275,2189,Q13546,,HGNC:10019 +GARD:0022205,Orphanet,529980,ORPHA:529980,1,NFAT5,"[KIAA0827, NF-AT5, NFATL1, NFATZ, OREBP, TONEBP, tonicity-responsive enhancer binding protein]",nuclear factor of activated T cells 5,gene with protein product,16q22.1,Candidate gene tested in,Not yet assessed,[PMID:25667416],604708,ENSG00000102908,,O94916,O94916,HGNC:7774 +GARD:0022208,Orphanet,530303,ORPHA:530303,1,SERPINI1,[neuroserpin],serpin family I member 1,gene with protein product,3q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12103288],602445,ENSG00000163536,,Q99574,,HGNC:8943 +GARD:0022210,Orphanet,530792,ORPHA:530792,2,RELA,[p65],"RELA proto-oncogene, NF-kB subunit",gene with protein product,11q13.1,Part of a fusion gene in,Assessed,[PMID:28895660],164014,ENSG00000173039,,Q04206,Q04206,HGNC:9955 +GARD:0022210,Orphanet,530792,ORPHA:530792,2,ZFTA,[MGC3032],zinc finger translocation associated,gene with protein product,11q13.1,Part of a fusion gene in,Assessed,[PMID:28895660],615699,ENSG00000188070,,C9JLR9,,HGNC:28449 +GARD:0022215,Orphanet,536516,ORPHA:536516,1,COL12A1,[collagen type XII proteoglycan],collagen type XII alpha 1 chain,gene with protein product,6q13-q14.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:28306225, PMID:28306229]",120320,ENSG00000111799,,Q99715,Q99715,HGNC:2188 +GARD:0022216,Orphanet,1900,ORPHA:1900,1,PLOD1,"[LH1, lysyl hydroxlase 1]","procollagen-lysine,2-oxoglutarate 5-dioxygenase 1",gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,"[PMID:15979919, PMID:20301635]",153454,ENSG00000083444,,Q02809,Q02809,HGNC:9081 +GARD:0022217,Orphanet,537072,ORPHA:537072,1,PLG,,plasminogen,gene with protein product,6q26,Disease-causing germline mutation(s) in,Assessed,[PMID:28795768],173350,ENSG00000122194,2394,P00747,P00747,HGNC:9071 +GARD:0022231,Orphanet,543470,ORPHA:543470,1,FDXR,"[ADR, adrenodoxin reductase, adrenodoxin-NADP(+) reductase]",ferredoxin reductase,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29040572],103270,ENSG00000161513,,P22570,P22570,HGNC:3642 +GARD:0022232,Orphanet,544254,ORPHA:544254,1,SYNGAP1,"[KIAA1938, RASA5, SYNGAP]",synaptic Ras GTPase activating protein 1,gene with protein product,6p21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:30541864],603384,ENSG00000197283,,Q96PV0,Q96PV0,HGNC:11497 +GARD:0022238,Orphanet,544628,ORPHA:544628,1,HNF4A,"[HNF4, NR2A1]",hepatocyte nuclear factor 4 alpha,gene with protein product,20q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:24285859],600281,ENSG00000101076,608,P41235,P41235,HGNC:5024 +GARD:0022243,Orphanet,556030,ORPHA:556030,1,CYP11B2,"[ALDOS, CPN2, CYP11BL, P-450C18, P450aldo, steroid 11-beta-monooxygenase]",cytochrome P450 family 11 subfamily B member 2,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22801770],124080,ENSG00000179142,1360,P19099,P19099,HGNC:2592 +GARD:0022246,Orphanet,556985,ORPHA:556985,1,CSF1R,"[C-FMS, CD115, CSFR]",colony stimulating factor 1 receptor,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,"[PMID:30982608, PMID:30982609]",164770,ENSG00000182578,1806,P07333,P07333,HGNC:2433 +GARD:0022247,Orphanet,557056,ORPHA:557056,1,GLS,"[GLS1, KIAA0838]",glutaminase,gene with protein product,2q32.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:30575854, PMID:30970188, PMID:30987386]",138280,ENSG00000115419,2891,O94925,O94925,HGNC:4331 +GARD:0022254,Orphanet,563609,ORPHA:563609,2,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Major susceptibility factor in,Assessed,[PMID:31424828],607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0022254,Orphanet,563609,ORPHA:563609,2,VANGL2,"['vang, van gogh-like 2', KIAA1215, LPP1, LTAP, Loop-tail-associated protein, MGC119403, MGC119404, STB1, STBM, STBM1, Strabismus, Vang, van gogh-like 2, loop-tail-associated protein, strabismus]",VANGL planar cell polarity protein 2,gene with protein product,1q23.2,Major susceptibility factor in,Assessed,[PMID:31424828],600533,ENSG00000162738,,Q9ULK5,Q9ULK5,HGNC:15511 +GARD:0022255,Orphanet,563612,ORPHA:563612,2,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Major susceptibility factor in,Assessed,[PMID:31516628],607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0022255,Orphanet,563612,ORPHA:563612,2,VANGL2,"['vang, van gogh-like 2', KIAA1215, LPP1, LTAP, Loop-tail-associated protein, MGC119403, MGC119404, STB1, STBM, STBM1, Strabismus, Vang, van gogh-like 2, loop-tail-associated protein, strabismus]",VANGL planar cell polarity protein 2,gene with protein product,1q23.2,Major susceptibility factor in,Assessed,[PMID:31516628],600533,ENSG00000162738,,Q9ULK5,Q9ULK5,HGNC:15511 +GARD:0022262,Orphanet,563708,ORPHA:563708,1,SPINT2,"[HAI-2, Kop, placental bikunin]","serine peptidase inhibitor, Kunitz type 2",gene with protein product,19q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19185281, PMID:26358773]",605124,ENSG00000167642,,O43291,O43291,HGNC:11247 +GARD:0022266,Orphanet,564178,ORPHA:564178,1,ATP1A1,"[sodium pump subunit alpha-1, sodium-potassium ATPase catalytic subunit alpha-1, sodium/potassium-transporting ATPase subunit alpha-1]",ATPase Na+/K+ transporting subunit alpha 1,gene with protein product,1p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30388404],182310,ENSG00000163399,833,P05023,P05023,HGNC:799 +GARD:0022267,Orphanet,565612,ORPHA:565612,1,PNPLA2,"[ATGL, FP17548, TTS-2.2, desnutrin, iPLA2zeta]",patatin like phospholipase domain containing 2,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:29539587],609059,ENSG00000177666,,Q96AD5,Q96AD5,HGNC:30802 +GARD:0022272,Orphanet,565909,ORPHA:565909,1,CAPN3,"[CANP3, nCL-1, p94]",calpain 3,gene with protein product,15q15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28881388],114240,ENSG00000092529,,P20807,P20807,HGNC:1480 +GARD:0022273,Orphanet,566067,ORPHA:566067,1,CEBPE,[CRP1],CCAAT enhancer binding protein epsilon,gene with protein product,14q11.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:31201888],600749,ENSG00000092067,,Q15744,,HGNC:1836 +GARD:0022274,Orphanet,566192,ORPHA:566192,1,FYB1,"[ADAP, FYB-120/130, SLAP-130, adhesion and degranulation promoting adaptor protein]",FYN binding protein 1,gene with protein product,5p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25876182],602731,ENSG00000082074,,O15117,O15117,HGNC:4036 +GARD:0022275,Orphanet,566231,ORPHA:566231,1,THRA,"[AR7, EAR-7.1/EAR-7.2, ERBA, NR1A1, THRA3, TRalpha]",thyroid hormone receptor alpha,gene with protein product,17q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25670821],190120,ENSG00000126351,588,P10827,P10827,HGNC:11796 +GARD:0022276,Orphanet,566393,ORPHA:566393,1,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:22324351, PMID:25729733]",164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0022277,Orphanet,566396,ORPHA:566396,1,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:22324351, PMID:25729733]",164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0022284,Orphanet,567502,ORPHA:567502,1,TOP2B,"[TOPIIB, top2beta]",DNA topoisomerase II beta,gene with protein product,3p24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31409799],126431,ENSG00000077097,,Q02880,Q02880,HGNC:11990 +GARD:0022304,Orphanet,569248,ORPHA:569248,1,CTNNB1,"[armadillo, beta-catenin]",catenin beta 1,gene with protein product,3p22.1,Candidate gene tested in,Not yet assessed,[PMID:28551672],116806,ENSG00000168036,,P35222,P35222,HGNC:2514 +GARD:0022305,Orphanet,569274,ORPHA:569274,1,ISCA1,"[ISA1, MGC4276, hIscA]",iron-sulfur cluster assembly 1,gene with protein product,9q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:28356563],611006,ENSG00000135070,,Q9BUE6,Q9BUE6,HGNC:28660 +GARD:0022307,Orphanet,569821,ORPHA:569821,1,VEGFC,"[VEGF-C, VRP, vascular endothelial growth factor-related protein]",vascular endothelial growth factor C,gene with protein product,4q34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30071673],601528,ENSG00000150630,,P49767,P49767,HGNC:12682 +GARD:0022308,Orphanet,570371,ORPHA:570371,1,MAGED2,"[11B6, BCG1, HCA10, JCL-1, MAGE-D2, MAGED, MGC8386, breast cancer associated gene 1, hepatocellular carcinoma associated protein, hepatocellular carcinoma-associated protein HCA10, melanoma-associated antigen D2]",MAGE family member D2,gene with protein product,Xp11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:27120771],300470,ENSG00000102316,,Q9UNF1,Q9UNF1,HGNC:16353 +GARD:0022312,Orphanet,572333,ORPHA:572333,1,FOXL2,[BPES1],forkhead box L2,gene with protein product,3q22.3,Role in the phenotype of,Assessed,"[PMID:21934608, PMID:24725350, PMID:25032695]",605597,ENSG00000183770,,P58012,P58012,HGNC:1092 +GARD:0022313,Orphanet,572428,ORPHA:572428,1,OAS1,"[2'-5' oligoadenylate synthase 1, IFI-4, OIASI]",2'-5'-oligoadenylate synthetase 1,gene with protein product,12q24.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:29455859, PMID:31953170]",164350,ENSG00000089127,,P00973,P00973,HGNC:8086 +GARD:0022318,Orphanet,574918,ORPHA:574918,1,IRF7,,interferon regulatory factor 7,gene with protein product,11p15.5,Candidate gene tested in,Not yet assessed,[PMID:25814066],605047,ENSG00000185507,,Q92985,Q92985,HGNC:6122 +GARD:0022319,Orphanet,574957,ORPHA:574957,1,JAK1,"[JAK1A, JTK3]",Janus kinase 1,gene with protein product,1p31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30264912],147795,ENSG00000162434,2047,P23458,,HGNC:6190 +GARD:0022320,Orphanet,575553,ORPHA:575553,1,CTSA,"[carboxypeptidase C, carboxypeptidase Y-like kininase, carboxypeptidase-L, deamidase, lysosomal carboxypeptidase A, lysosomal protective protein, urinary kininase]",cathepsin A,gene with protein product,20q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:31177426],613111,ENSG00000064601,1581,P10619,P10619,HGNC:9251 +GARD:0022323,Orphanet,576232,ORPHA:576232,1,GATA4,,GATA binding protein 4,gene with protein product,8p23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17643447],600576,ENSG00000136574,,P43694,P43694,HGNC:4173 +GARD:0022324,Orphanet,576235,ORPHA:576235,1,CRELD1,[CIRRIN],cysteine rich with EGF like domains 1,gene with protein product,3p25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12632326, PMID:15096951, PMID:21080147]",607170,ENSG00000163703,,Q96HD1,,HGNC:14630 +GARD:0022332,Orphanet,580933,ORPHA:580933,1,SIRT6,,sirtuin 6,gene with protein product,19p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29555651],606211,ENSG00000077463,2712,Q8N6T7,Q8N6T7,HGNC:14934 +GARD:0022335,Orphanet,583602,ORPHA:583602,1,PSAT1,"[PSA, PSAT, phosphoserine transaminase]",phosphoserine aminotransferase 1,gene with protein product,9q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25152457],610936,ENSG00000135069,,Q9Y617,Q9Y617,HGNC:19129 +GARD:0022336,Orphanet,583607,ORPHA:583607,1,PHGDH,"[D-3-phosphoglycerate dehydrogenase, PDG, PGDH, SERA]",phosphoglycerate dehydrogenase,gene with protein product,1p12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24836451],606879,ENSG00000092621,,O43175,O43175,HGNC:8923 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,TCF3,"[E2A, E2A immunoglobulin enhancer-binding factor E12/E47, E47, ITF1, MGC129647, MGC129648, VDIR, VDR interacting repressor, bHLHb21, immunoglobulin transcription factor 1, kappa-E2-binding factor, p75, transcription factor E2-alpha]",transcription factor 3,gene with protein product,19p13.3,Part of a fusion gene in,Assessed,,147141,ENSG00000071564,,P15923,P15923,HGNC:11633 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,KMT2A,"[ALL-1, CXXC7, HRX, HTRX1, Histone-lysine N-methyltransferase 2A, MLL1A, TRX1]",lysine methyltransferase 2A,gene with protein product,11q23.3,Part of a fusion gene in,Assessed,,159555,ENSG00000118058,2688,Q03164,Q03164,HGNC:7132 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,AFF1,"[AF-4, AF4]",AF4/FMR2 family member 1,gene with protein product,4q21.3-q22.1,Part of a fusion gene in,Assessed,,159557,ENSG00000172493,,P51825,P51825,HGNC:7135 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Major susceptibility factor in,Assessed,[PMID:23255406],191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,FOXP1,"[12CC4, HSPC215, PAX5/FOXP1 fusion protein, QRF1, fork head-related protein like B, glutamine-rich factor 1, hFKH1B]",forkhead box P1,gene with protein product,3p13,Part of a fusion gene in,Assessed,[PMID:21962897],605515,ENSG00000114861,,Q9H334,Q9H334,HGNC:3823 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,IKZF1,"[Hs.54452, IKAROS, LyF-1, PPP1R92, hIk-1, protein phosphatase 1, regulatory subunit 92]",IKAROS family zinc finger 1,gene with protein product,7p12.2,Biomarker tested in,Assessed,"[PMID:18408710, PMID:19129520, PMID:19770381, PMID:23751147]",603023,ENSG00000185811,,Q13422,Q13422,HGNC:13176 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,ETV6,"[TEL, TEL oncogene]",ETS variant transcription factor 6,gene with protein product,12p13.2,Part of a fusion gene in,Assessed,[PMID:23491079],600618,ENSG00000139083,,P41212,P41212,HGNC:3495 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,ABL1,"[JTK7, c-ABL, p150]","ABL proto-oncogene 1, non-receptor tyrosine kinase",gene with protein product,9q34.12,Part of a fusion gene in,Assessed,[PMID:23491079],189980,ENSG00000097007,1923,P00519,P00519,HGNC:76 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,IGH,,immunoglobulin heavy locus,gene with protein product,14q32.33,Disease-causing somatic mutation(s) in,Assessed,[PMID:1554798],146910; 147010; 147070,,,Q6P089,,HGNC:5477 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,GATA3,[HDR],GATA binding protein 3,gene with protein product,10p14,Major susceptibility factor in,Assessed,"[PMID:23996088, PMID:24141364, PMID:24203929]",131320,ENSG00000107485,,P23771,P23771,HGNC:4172 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,AUTS2,"[FBRSL2, KIAA0442]",activator of transcription and developmental regulator AUTS2,gene with protein product,7q11.22,Part of a fusion gene in,Assessed,[PMID:22578776],607270,ENSG00000158321,,Q8WXX7,Q8WXX7,HGNC:14262 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,RUNX1,"[AMLCR1, PEBP2A2, aml1 oncogene]",RUNX family transcription factor 1,gene with protein product,21q22.12,Part of a fusion gene in,Assessed,[PMID:23491079],151385,ENSG00000159216,,Q01196,Q01196,HGNC:10471 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,HLF,[MGC33822],"HLF transcription factor, PAR bZIP family member",gene with protein product,17q22,Part of a fusion gene in,Assessed,[PMID:20519628],142385,ENSG00000108924,,Q16534,,HGNC:4977 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,PIP4K2A,"[PIP5KIIA, PIP5KIIalpha]",phosphatidylinositol-5-phosphate 4-kinase type 2 alpha,gene with protein product,10p12.2,Major susceptibility factor in,Assessed,[PMID:23996088],603140,ENSG00000150867,2858,P48426,P48426,HGNC:8997 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,HLA-C,,"major histocompatibility complex, class I, C",gene with protein product,6p21.33,Major susceptibility factor in,Assessed,[PMID:25163702],142840,ENSG00000204525,,P10321,P04222; P10321,HGNC:4933 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,CDKN2A,"[ARF, CDK4I, CMM2, INK4, INK4a, MTS1, p14, p14ARF, p16, p16INK4a, p19, p19Arf]",cyclin dependent kinase inhibitor 2A,gene with protein product,9p21.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:18838613],600160,ENSG00000147889,,P42771,P42771,HGNC:1787 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,FLT3,"[CD135, FLK2, STK1]",fms related receptor tyrosine kinase 3,gene with protein product,13q12.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:16234090],136351,ENSG00000122025,1807,P36888,P36888,HGNC:3765 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,PDGFRA,"[CD140a, GAS9, PDGFR2]",platelet derived growth factor receptor alpha,gene with protein product,4q12,Part of a fusion gene in,Assessed,"[PMID:21304535, PMID:26191303]",173490,ENSG00000134853,1803,P16234,P16234,HGNC:8803 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,PAX5,"[B-cell lineage specific activator, BSAP]",paired box 5,gene with protein product,9p13.2,Part of a fusion gene in,Assessed,"[PMID:17179230, PMID:21962897, PMID:22578776]",167414,ENSG00000196092,,Q02548,Q02548,HGNC:8619 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,BCR,"[ALL, CML, D22S662, PHL]",BCR activator of RhoGEF and GTPase,gene with protein product,22q11.23,Part of a fusion gene in,Assessed,[PMID:23491079],151410,ENSG00000186716,2755,P11274,P11274,HGNC:1014 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,PBX1,,PBX homeobox 1,gene with protein product,1q23.3,Part of a fusion gene in,Assessed,,176310,ENSG00000185630,,P40424,P40424,HGNC:8632 +GARD:0022341,Orphanet,585877,ORPHA:585877,21,PAX5,"[B-cell lineage specific activator, BSAP]",paired box 5,gene with protein product,9p13.2,Major susceptibility factor in,Assessed,[PMID:24013638],167414,ENSG00000196092,,Q02548,Q02548,HGNC:8619 +GARD:0022350,Orphanet,589442,ORPHA:589442,1,PISD,"[PSDC, dJ858B16.2]",phosphatidylserine decarboxylase,gene with protein product,22q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31263216],612770,ENSG00000241878,1277,Q9UG56,,HGNC:8999 +GARD:0022351,Orphanet,589515,ORPHA:589515,1,PUM1,"[KIAA0099, PUMH1]",pumilio RNA binding family member 1,gene with protein product,1p35.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30903679],607204,ENSG00000134644,,Q14671,,HGNC:14957 +GARD:0022352,Orphanet,589522,ORPHA:589522,1,PLD3,[HU-K4],phospholipase D family member 3,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:29847346],615698,ENSG00000105223,,Q8IV08,Q8IV08,HGNC:17158 +GARD:0022353,Orphanet,589527,ORPHA:589527,1,FAT2,"[CDHF8, CDHR9, HFAT2, MEGF1, cadherin-related family member 9]",FAT atypical cadherin 2,gene with protein product,5q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29053796],604269,ENSG00000086570,,Q9NYQ8,,HGNC:3596 +GARD:0022354,Orphanet,589534,ORPHA:589534,2,KMT2A,"[ALL-1, CXXC7, HRX, HTRX1, Histone-lysine N-methyltransferase 2A, MLL1A, TRX1]",lysine methyltransferase 2A,gene with protein product,11q23.3,Part of a fusion gene in,Assessed,"[PMID:26276768, PMID:27069254, PMID:29072953]",159555,ENSG00000118058,2688,Q03164,Q03164,HGNC:7132 +GARD:0022354,Orphanet,589534,ORPHA:589534,2,FLT3,"[CD135, FLK2, STK1]",fms related receptor tyrosine kinase 3,gene with protein product,13q12.2,Disease-causing somatic mutation(s) in,Assessed,"[PMID:26276768, PMID:27069254, PMID:29072953]",136351,ENSG00000122025,1807,P36888,P36888,HGNC:3765 +GARD:0022356,Orphanet,589547,ORPHA:589547,1,GRIN2B,[GluN2B],glutamate ionotropic receptor NMDA type subunit 2B,gene with protein product,12p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29851452],138252,ENSG00000273079,457,Q13224,Q13224,HGNC:4586 +GARD:0022357,Orphanet,589595,ORPHA:589595,2,KMT2A,"[ALL-1, CXXC7, HRX, HTRX1, Histone-lysine N-methyltransferase 2A, MLL1A, TRX1]",lysine methyltransferase 2A,gene with protein product,11q23.3,Part of a fusion gene in,Assessed,"[PMID:26276768, PMID:27069254, PMID:29072953]",159555,ENSG00000118058,2688,Q03164,Q03164,HGNC:7132 +GARD:0022357,Orphanet,589595,ORPHA:589595,2,FLT3,"[CD135, FLK2, STK1]",fms related receptor tyrosine kinase 3,gene with protein product,13q12.2,Disease-causing somatic mutation(s) in,Assessed,"[PMID:26276768, PMID:27069254, PMID:29072953]",136351,ENSG00000122025,1807,P36888,P36888,HGNC:3765 +GARD:0022358,Orphanet,589608,ORPHA:589608,1,RHOA,"[RHOH12, Rho12, RhoA]",ras homolog family member A,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:31570889],165390,ENSG00000067560,,P61586,P61586,HGNC:667 +GARD:0022359,Orphanet,589618,ORPHA:589618,1,KMT2B,"[CXXC10, HRX2, Histone-lysine N-methyltransferase 2B, KIAA0304, MLL1B, MLL2, MLL4, TRX2, WBP7, myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4]",lysine methyltransferase 2B,gene with protein product,19q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:27992417],606834,ENSG00000272333,2689,Q9UMN6,,HGNC:15840 +GARD:0022361,Orphanet,589821,ORPHA:589821,1,DMPK,"[DM protein kinase, DM1PK, DMK, MDPK, MT-PK, Myotonin-protein kinase, dystrophia myotonica 1, myotonic dystrophy associated protein kinase, myotonin protein kinase A, thymopoietin homolog]",DM1 protein kinase,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:31326502],605377,ENSG00000104936,1505,Q09013,Q09013,HGNC:2933 +GARD:0022366,Orphanet,589856,ORPHA:589856,1,KMT2D,"[ALR, CAGL114, MLL4, histone-lysine N-methyltransferase 2D]",lysine methyltransferase 2D,gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:31949313],602113,ENSG00000167548,2691,O14686,O14686,HGNC:7133 +GARD:0022367,Orphanet,589905,ORPHA:589905,1,PHIP,"[BRWD2, DCAF14, DDB1 and CUL4 associated factor 14, FLJ20705, ndrp]",pleckstrin homology domain interacting protein,gene with protein product,6q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29209020],612870,ENSG00000146247,2776,Q8WWQ0,,HGNC:15673 +GARD:0022369,Orphanet,592564,ORPHA:592564,1,GNAO1,[G-ALPHA-o],G protein subunit alpha o1,gene with protein product,16q13,Disease-causing germline mutation(s) in,Assessed,[PMID:29758257],139311,ENSG00000087258,,P09471,P09471,HGNC:4389 +GARD:0022370,Orphanet,592570,ORPHA:592570,1,TRAF7,"[DKFZp586I021, MGC7807, RNF119]",TNF receptor associated factor 7,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29961569],606692,ENSG00000131653,,Q6Q0C0,,HGNC:20456 +GARD:0022371,Orphanet,592574,ORPHA:592574,1,CREBBP,"[CBP, KAT3A, RTS]",CREB binding protein,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27311832],600140,ENSG00000005339,2734,Q92793,Q92793,HGNC:2348 +GARD:0022380,Orphanet,595098,ORPHA:595098,1,CACNA1C,"[CACH2, CACN2, Cav1.2, LQT8, TS]",calcium voltage-gated channel subunit alpha1 C,gene with protein product,12p13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:15454078],114205,ENSG00000151067,529,Q13936,Q13936,HGNC:1390 +GARD:0022389,Orphanet,596008,ORPHA:596008,1,FGFR2,"[CD332, CEK3, Crouzon syndrome, ECT1, K-SAM, Pfeiffer syndrome, TK14, TK25]",fibroblast growth factor receptor 2,gene with protein product,10q26.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301592],176943,ENSG00000066468,1809,P21802,P21802,HGNC:3689 +GARD:0022396,Orphanet,597623,ORPHA:597623,1,IRF2BPL,"[EAP1, KIAA1865, enhanced at puberty 1]",interferon regulatory factor 2 binding protein like,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30057031],611720,ENSG00000119669,,Q9H1B7,Q9H1B7,HGNC:14282 +GARD:0022401,Orphanet,597939,ORPHA:597939,1,TTR,"[CTS, HsT2651]",transthyretin,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:1979335],176300,ENSG00000118271,2851,P02766,P02766,HGNC:12405 +GARD:0022404,Orphanet,599373,ORPHA:599373,1,STXBP1,"[MUNC18-1, UNC18, hUNC18, nSec1, rbSec1, syntaxin-binding protein 1]",syntaxin binding protein 1,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,[PMID:32643187],602926,ENSG00000136854,,P61764,P61764,HGNC:11444 +GARD:0022405,Orphanet,599376,ORPHA:599376,1,PLP1,"[GPM6C, Pelizaeus-Merzbacher disease]",proteolipid protein 1,gene with protein product,Xq22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26125040],300401,ENSG00000123560,,P60201,,HGNC:9086 +GARD:0022406,Orphanet,599418,ORPHA:599418,4,MYOF,"[KIAA1207, fer-1-like family member 3]",myoferlin,gene with protein product,10q23.33,Disease-causing germline mutation(s) in,Assessed,[PMID:33508266],604603,ENSG00000138119,,Q9NZM1,,HGNC:3656 +GARD:0022406,Orphanet,599418,ORPHA:599418,4,HS3ST6,,heparan sulfate-glucosamine 3-sulfotransferase 6,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:33799813],619210,ENSG00000162040,,Q96QI5,,HGNC:14178 +GARD:0022406,Orphanet,599418,ORPHA:599418,4,KNG1,"[BK, alpha-2-thiol proteinase inhibitor, bradykinin]",kininogen 1,gene with protein product,3q27.3,Disease-causing germline mutation(s) in,Assessed,[PMID:33059692],612358,ENSG00000113889,,P01042,P01042,HGNC:6383 +GARD:0022406,Orphanet,599418,ORPHA:599418,4,ANGPT1,"[Ang1, KIAA0003]",angiopoietin 1,gene with protein product,8q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28601681],601667,ENSG00000154188,4867,Q15389,Q15389,HGNC:484 +GARD:0022416,Orphanet,600663,ORPHA:600663,1,NRXN1,"[Hs.22998, KIAA0578]",neurexin 1,gene with protein product,2p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25408897],600565,ENSG00000179915,,P58400; Q9ULB1,P58400; Q9ULB1,HGNC:8008 +GARD:0022417,Orphanet,600668,ORPHA:600668,1,CCNK,[CPR4],cyclin K,gene with protein product,14q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30122539],603544,ENSG00000090061,,O75909,,HGNC:1596 +GARD:0022435,Orphanet,603684,ORPHA:603684,1,KLHL7,"[KLHL6, RP42, SBBI26, retinitis pigmentosa 42]",kelch like family member 7,gene with protein product,7p15.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29074562],611119,ENSG00000122550,,Q8IXQ5,,HGNC:15646 +GARD:0022436,Orphanet,603689,ORPHA:603689,1,KLHL7,"[KLHL6, RP42, SBBI26, retinitis pigmentosa 42]",kelch like family member 7,gene with protein product,7p15.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29074562],611119,ENSG00000122550,,Q8IXQ5,,HGNC:15646 +GARD:0022437,Orphanet,603694,ORPHA:603694,1,KLHL7,"[KLHL6, RP42, SBBI26, retinitis pigmentosa 42]",kelch like family member 7,gene with protein product,7p15.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29074562],611119,ENSG00000122550,,Q8IXQ5,,HGNC:15646 +GARD:0022454,Orphanet,617919,ORPHA:617919,1,F12,,coagulation factor XII,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31924766],610619,ENSG00000131187,2361,P00748,P00748,HGNC:3530 +GARD:0022458,Orphanet,619233,ORPHA:619233,1,BCL11A,"[BCL11A-L, BCL11A-S, BCL11A-XL, CTIP1, HBFQTL5, SMARCM1, ZNF856]",BAF chromatin remodeling complex subunit BCL11A,gene with protein product,2p16.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27453576],606557,ENSG00000119866,,Q9H165,,HGNC:13221 +GARD:0022462,Orphanet,619363,ORPHA:619363,1,CDC42,"[CDC42Hs, G25K, GTP binding protein, 25kDa]",cell division cycle 42,gene with protein product,1p36.12,Disease-causing germline mutation(s) in,Assessed,[PMID:31271789],116952,ENSG00000070831,,P60953,P60953,HGNC:1736 +GARD:0022463,Orphanet,619367,ORPHA:619367,1,SAMD9L,"[FLJ39885, KIAA2005]",sterile alpha motif domain containing 9 like,gene with protein product,7q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31874111],611170,ENSG00000177409,,Q8IVG5,,HGNC:1349 +GARD:0022483,Orphanet,620220,ORPHA:620220,1,KCNJ1,"[ATP-sensitive inward rectifier potassium channel 1, Kir1.1, ROMK1]",potassium inwardly rectifying channel subfamily J member 1,gene with protein product,11q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26963954],600359,ENSG00000151704,429,P48048,P48048,HGNC:6255 +GARD:0022484,Orphanet,620363,ORPHA:620363,1,CNNM2,,cyclin and CBS domain divalent metal cation transport mediator 2,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,[PMID:33600043],607803,ENSG00000148842,,Q9H8M5,Q9H8M5,HGNC:103 +GARD:0022485,Orphanet,620368,ORPHA:620368,1,EGF,[Pro-epidermal growth factor],epidermal growth factor,gene with protein product,4q25,Disease-causing germline mutation(s) in,Assessed,[PMID:17671655],131530,ENSG00000138798,,P01133,P01133,HGNC:3229 +GARD:0022487,Orphanet,621758,ORPHA:621758,1,NHLRC2,,NHL repeat containing 2,gene with protein product,10q25.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:30138417, PMID:30239752]",,,,,,HGNC:24731 +GARD:0022537,Orphanet+OMIM,249500,OMIM:249500,1,PRSS12,"[BSSP-3, MRT1, autosomal recessive 1, brain-specific serine protease 3, mental retardation, motopsin, neurotrypsin]",serine protease 12,gene with protein product,4q26,The molecular basis of the disorder is known,Unknown,,606709,ENSG00000164099,,P56730,,HGNC:9477 +GARD:0022538,Orphanet+OMIM,607417,OMIM:607417,1,CRBN,[MRT2],cereblon,gene with protein product,3p26.2,The molecular basis of the disorder is known,Unknown,,609262,ENSG00000113851,objectId:3086,Q96SW2,Q96SW2,HGNC:30185 +GARD:0022539,Orphanet+OMIM,608443,OMIM:608443,1,CC2D1A,"[3, Aki-1, Akt Kinase-Interacting Protein 1, FLJ20241, Five prime repressor element under dual repression-binding protein 1, Freud-1, Lgd2, MRT3, TAPE, TBK1-associated protein in endolysosomes, autosomal recessive, lethal (2) giant discs homolog 2, mental retardation, nonsyndromic]",coiled-coil and C2 domain containing 1A,gene with protein product,19p13.12,The molecular basis of the disorder is known,Unknown,,610055,ENSG00000132024,,Q6P1N0,,HGNC:30237 +GARD:0022540,Orphanet+OMIM,611090,OMIM:611090,1,ST3GAL3,"[N-acetyllactosaminide alpha-2;3-sialyltransferase, ST3Gal III]","ST3 beta-galactoside alpha-2,3-sialyltransferase 3",gene with protein product,1p34.1,The molecular basis of the disorder is known,Unknown,,606494,ENSG00000126091,,Q11203,Q11203,HGNC:10866 +GARD:0022541,Orphanet+OMIM,611091,OMIM:611091,1,NSUN2,"[FLJ20303, Misu, Myc-induced SUN-domain-containing protein, RNA cytosine C(5)-methyltransferase NSUN2, SAKI, TRM4, tRNA methyltransferase 4 homolog (S. cerevisiae)]",NOP2/Sun RNA methyltransferase 2,gene with protein product,5p15.31,The molecular basis of the disorder is known,Unknown,,610916,ENSG00000037474,,Q08J23,Q08J23,HGNC:25994 +GARD:0022542,Orphanet+OMIM,611092,OMIM:611092,1,GRIK2,"[GluK2, MRT6]",glutamate ionotropic receptor kainate type subunit 2,gene with protein product,6q16.3,The molecular basis of the disorder is known,Unknown,,138244,ENSG00000164418,objectId:451,Q13002,Q13002,HGNC:4580 +GARD:0022543,Orphanet+OMIM,611093,OMIM:611093,1,TUSC3,"[MGC13453, MRT7, MagT2, Magnesium uptake/transporter TUSC3, N33, OST3A, SLC58A2, oligosaccharyltransferase 3 homolog A (S. cerevisiae)]",tumor suppressor candidate 3,gene with protein product,8p22,The molecular basis of the disorder is known,Unknown,,601385,ENSG00000104723,objectId:3040,Q13454,Q13454,HGNC:30242 +GARD:0022544,Orphanet+OMIM,611095,OMIM:611095,1,MRT9,[MRT26],"Intellectual developmental disorder, autosomal recessive 9/26",unknown,14q11.2-q12,The disease phenotype itself was mapped,Unknown,,611095,,,,,GeneID:100101424 +GARD:0022545,Orphanet+OMIM,611096,OMIM:611096,1,MRT10,[MRT20],"Intellectual developmental disorder, autosomal recessive 10/20",unknown,16p12.2-q12.1,The disease phenotype itself was mapped,Unknown,,611096,,,,,GeneID:100101425 +GARD:0022546,Orphanet+OMIM,611097,OMIM:611097,1,MRT11,,"Intellectual developmental disorder, autosomal recessive 11",unknown,19q13.2-q13.3,The disease phenotype itself was mapped,Unknown,,611097,,,,,GeneID:100101426 +GARD:0022547,Orphanet+OMIM,611107,OMIM:611107,1,MRT4,,"Intellectual developmental disorder, autosomal recessive 4",unknown,1p21.1-p13.3,The disease phenotype itself was mapped,Unknown,,611107,,,,,GeneID:100009675 +GARD:0022548,Orphanet+OMIM,613192,OMIM:613192,1,TRAPPC9,"[IKBKBBP, KIAA1882, MRT13, NIBP, T1, TRAPP 120 kDa subunit, TRS120, tularik gene 1]",trafficking protein particle complex subunit 9,gene with protein product,8q24.3,The molecular basis of the disorder is known,Unknown,,611966,ENSG00000167632,,Q96Q05,Q96Q05,HGNC:30832 +GARD:0022549,Orphanet+OMIM,614020,OMIM:614020,1,TECR,"[MRT14, TER, very-long-chain enoyl-CoA reductase]","trans-2,3-enoyl-CoA reductase",gene with protein product,19p13.12,The molecular basis of the disorder is known,Unknown,,610057,ENSG00000099797,,Q9NZ01,Q9NZ01,HGNC:4551 +GARD:0022550,Orphanet+OMIM,614202,OMIM:614202,1,MAN1B1,"[ER alpha 1;2-mannosidase, ERMan1, ERManI, MANA-ER, MRT15, Man9GlcNAc2-specific processing alpha-mannosidase, alpha 1;2-mannosidase, endoplasmic Reticulum Class I alpha-mannosidase, endoplasmic reticulum alpha-mannosidase 1, endoplasmic reticulum mannosyl-oligosaccharide 1;2-alpha-mannosidase 1]",mannosidase alpha class 1B member 1,gene with protein product,9q34.3,The molecular basis of the disorder is known,Unknown,,604346,ENSG00000177239,,Q9UKM7,Q9UKM7,HGNC:6823 +GARD:0022551,Orphanet+OMIM,614208,OMIM:614208,1,MRT16,,"Intellectual developmental disorder, autosomal recessive 16",unknown,9p23-p13.3,The disease phenotype itself was mapped,Unknown,,614208,,,,,GeneID:100689014 +GARD:0022552,Orphanet+OMIM,614249,OMIM:614249,1,MED23,"[CRSP130, DRIP130, Sur2]",mediator complex subunit 23,gene with protein product,6q23.2,The molecular basis of the disorder is known,Unknown,,605042,ENSG00000112282,,Q9ULK4,Q9ULK4,HGNC:2372 +GARD:0022553,Orphanet+OMIM,614329,OMIM:614329,1,MRT31,,"Intellectual developmental disorder, autosomal recessive 31",unknown,4q12-q13.1,The disease phenotype itself was mapped,Unknown,,614329,,,,,GeneID:100852399 +GARD:0022554,Orphanet+OMIM,614333,OMIM:614333,1,MRT29,,"Intellectual developmental disorder, autosomal recessive 29",unknown,4q27-q28.2,The disease phenotype itself was mapped,Unknown,,614333,,,,,GeneID:100852393 +GARD:0022555,Orphanet+OMIM,614340,OMIM:614340,1,LINS1,[WINS1],lines homolog 1,gene with protein product,15q26.3,The molecular basis of the disorder is known,Unknown,,610350,ENSG00000140471,,Q8NG48,,HGNC:30922 +GARD:0022556,Orphanet+OMIM,614341,OMIM:614341,1,MRT33,,"Intellectual developmental disorder, autosomal recessive 33",unknown,17p13.2-p13.1,The disease phenotype itself was mapped,Unknown,,614341,,,,,GeneID:100852394 +GARD:0022557,Orphanet+OMIM,614342,OMIM:614342,1,MRT30,,"Intellectual developmental disorder, autosomal recessive 30",unknown,6q12-q15,The disease phenotype itself was mapped,Unknown,,614342,,,,,GeneID:100852401 +GARD:0022558,Orphanet+OMIM,614343,OMIM:614343,1,MRT19,,"Intellectual developmental disorder, autosomal recessive 19",unknown,18p11.3,The disease phenotype itself was mapped,Unknown,,614343,,,,,GeneID:100852395 +GARD:0022559,Orphanet+OMIM,614344,OMIM:614344,1,MRT23,,"Intellectual developmental disorder, autosomal recessive 23",unknown,11p13-q14.1,The disease phenotype itself was mapped,Unknown,,614344,,,,,GeneID:100852398 +GARD:0022560,Orphanet+OMIM,614345,OMIM:614345,1,MRT24,,"Intellectual developmental disorder, autosomal recessive 24",unknown,6p12.2-q12,The disease phenotype itself was mapped,Unknown,,614345,,,,,GeneID:100852402 +GARD:0022561,Orphanet+OMIM,614346,OMIM:614346,1,MRT25,,"Intellectual developmental disorder, autosomal recessive 25",unknown,12q13.11-q15,The disease phenotype itself was mapped,Unknown,,614346,,,,,GeneID:100852403 +GARD:0022562,Orphanet+OMIM,614347,OMIM:614347,1,MRT28,,"Intellectual developmental disorder, autosomal recessive 28",unknown,6q26-q27,The disease phenotype itself was mapped,Unknown,,614347,,,,,GeneID:100852396 +GARD:0022563,Orphanet+OMIM,614499,OMIM:614499,1,CRADD,"[RAIDD, RIP-associated ICH1/CED3-homologous protein with death domain]",CASP2 and RIPK1 domain containing adaptor with death domain,gene with protein product,12q22,The molecular basis of the disorder is known,Unknown,,603454,ENSG00000169372,,P78560,P78560,HGNC:2340 +GARD:0022564,Orphanet+OMIM,615802,OMIM:615802,1,PGAP1,"[Bst1, FLJ12377, GPI inositol-deacylase, SPG67]",post-GPI attachment to proteins inositol deacylase 1,gene with protein product,2q33.1,The molecular basis of the disorder is known,Unknown,,611655,ENSG00000197121,,Q75T13,Q75T13,HGNC:25712 +GARD:0022565,Orphanet+OMIM,615817,OMIM:615817,1,WASHC4,"[SWIP, strumpellin and WASH-interacting protein]",WASH complex subunit 4,gene with protein product,12q23.3,The molecular basis of the disorder is known,Unknown,,615748,ENSG00000136051,,Q2M389,,HGNC:29174 +GARD:0022566,Orphanet+OMIM,615942,OMIM:615942,1,METTL23,[LOC124512],methyltransferase like 23,gene with protein product,17q25.1,The molecular basis of the disorder is known,Unknown,,615262,ENSG00000181038,,Q86XA0,,HGNC:26988 +GARD:0022567,Orphanet+OMIM,615979,OMIM:615979,1,FBXO31,"[FBX14, FBXO14, Fbx31, MGC15419]",F-box protein 31,gene with protein product,16q24.2,The molecular basis of the disorder is known,Unknown,,609102,ENSG00000103264,,Q5XUX0,Q5XUX0,HGNC:16510 +GARD:0022568,Orphanet+OMIM,616116,OMIM:616116,1,NDST1,"[N-Deacetylase-N-sulfotransferase 1, NST1, [Heparan sulfate]-glucosamine N-sulfotransferase 1, heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1]",N-deacetylase and N-sulfotransferase 1,gene with protein product,5q33.1,The molecular basis of the disorder is known,Unknown,,600853,ENSG00000070614,,P52848,P52848,HGNC:7680 +GARD:0022569,Orphanet+OMIM,616193,OMIM:616193,1,FMN2,,formin 2,gene with protein product,1q43,The molecular basis of the disorder is known,Unknown,,606373,ENSG00000155816,,Q9NZ56,,HGNC:14074 +GARD:0022570,Orphanet+OMIM,616460,OMIM:616460,1,EDC3,"[FLJ21128, LSM16, LSM16 homolog (EDC3, S. cerevisiae), YJEFN2, hYjeF_N2-15q23]",enhancer of mRNA decapping 3,gene with protein product,15q24.1,The molecular basis of the disorder is known,Unknown,,609842,ENSG00000179151,,Q96F86,Q96F86,HGNC:26114 +GARD:0022571,Orphanet+OMIM,616739,OMIM:616739,1,HNMT,,histamine N-methyltransferase,gene with protein product,2q22.1,The molecular basis of the disorder is known,Unknown,,605238,ENSG00000150540,,P50135,P50135,HGNC:5028 +GARD:0022572,Orphanet+OMIM,616887,OMIM:616887,1,LMAN2L,"[DKFZp564L2423, VIP36-like, VIPL]","lectin, mannose binding 2 like",gene with protein product,2q11.2,The molecular basis of the disorder is known,Unknown,,609552,ENSG00000114988,,Q9H0V9,Q9H0V9,HGNC:19263 +GARD:0022573,Orphanet+OMIM,617028,OMIM:617028,1,TNIK,[KIAA0551],TRAF2 and NCK interacting kinase,gene with protein product,3q26.2-q26.31,The molecular basis of the disorder is known,Unknown,,610005,ENSG00000154310,objectId:2244,Q9UKE5,Q9UKE5,HGNC:30765 +GARD:0022574,Orphanet+OMIM,617125,OMIM:617125,1,ZC3H14,"[FLJ11806, NY-REN-37, UKp68]",zinc finger CCCH-type containing 14,gene with protein product,14q31.3,The molecular basis of the disorder is known,Unknown,,613279,ENSG00000100722,,Q6PJT7,,HGNC:20509 +GARD:0022575,Orphanet+OMIM,617188,OMIM:617188,1,MBOAT7,"[BB1, LPIAT1, LPLAT, LPLAT11, hMBOA-7, lysophosphatidylinositol acyltransferase, lysophosphatidylinositol acyltransferase 1, lysophospholipid acyltransferase 11, lysophospholipid acyltransferase 7]",membrane bound O-acyltransferase domain containing 7,gene with protein product,19q13.42,The molecular basis of the disorder is known,Unknown,,606048,ENSG00000125505,,Q96N66,Q96N66,HGNC:15505 +GARD:0022576,Orphanet+OMIM,617709,OMIM:617709,1,SARS1,"[SERS, cytoplasmic, serine tRNA ligase 1]",seryl-tRNA synthetase 1,gene with protein product,1p13.3,The molecular basis of the disorder is known,Unknown,,607529,ENSG00000031698,,P49591,P49591,HGNC:10537 +GARD:0022577,Orphanet+OMIM,617816,OMIM:617816,1,PIGC,"[GPI2, PIG-C, phosphatidylinositol N-acetylglucosaminyltransferase subunit C]",phosphatidylinositol glycan anchor biosynthesis class C,gene with protein product,1q24.3,The molecular basis of the disorder is known,Unknown,,601730,ENSG00000135845,,Q92535,Q92535,HGNC:8960 +GARD:0022578,Orphanet+OMIM,618109,OMIM:618109,1,KDM5B,"[CT31, PLU-1, PPP1R98, RBBP2H1A, cancer/testis antigen 31, protein phosphatase 1, regulatory subunit 98]",lysine demethylase 5B,gene with protein product,1q32.1,The molecular basis of the disorder is known,Unknown,,605393,ENSG00000117139,objectId:2681,Q9UGL1,Q9UGL1,HGNC:18039 +GARD:0022579,Orphanet+OMIM,618221,OMIM:618221,1,C12orf4,,chromosome 12 open reading frame 4,gene with protein product,12p13.32,The molecular basis of the disorder is known,Unknown,,616082,ENSG00000047621,,Q9NQ89,,HGNC:1184 +GARD:0022580,Orphanet+OMIM,618402,OMIM:618402,1,RSRC1,"[BM-011, MGC12197, SFRS21, SRrp53, arginine/serine-rich 21, splicing factor]",arginine and serine rich coiled-coil 1,gene with protein product,3q25.32,The molecular basis of the disorder is known,Unknown,,613352,ENSG00000174891,,Q96IZ7,,HGNC:24152 +GARD:0022581,Orphanet+OMIM,618687,OMIM:618687,1,IQSEC1,"[ARF-GEP100, BRAG2, GEP100, KIAA0763, brefeldin A-resistant ARF-GEF2]",IQ motif and Sec7 domain ArfGEF 1,gene with protein product,3p25.2-p25.1,The molecular basis of the disorder is known,Unknown,,610166,ENSG00000144711,,Q6DN90,,HGNC:29112 +GARD:0022582,Orphanet+OMIM,600060,OMIM:600060,1,MYO7A,[NSRD2],myosin VIIA,gene with protein product,11q13.5,The molecular basis of the disorder is known,Unknown,,276903,ENSG00000137474,,Q13402,Q13402,HGNC:7606 +GARD:0022583,Orphanet+OMIM,600316,OMIM:600316,1,MYO15A,,myosin XVA,gene with protein product,17p11.2,The molecular basis of the disorder is known,Unknown,,602666,ENSG00000091536,,Q9UKN7,Q9UKN7,HGNC:7594 +GARD:0022584,Orphanet+OMIM,600791,OMIM:600791,3,SLC26A4,"[PDS, Pendred syndrome, pendrin]",solute carrier family 26 member 4,gene with protein product,7q22.3,The molecular basis of the disorder is known,Unknown,,605646,ENSG00000091137,objectId:1100,O43511,O43511,HGNC:8818 +GARD:0022584,Orphanet+OMIM,600791,OMIM:600791,3,KCNJ10,"[Kir1.2, Kir4.1]",potassium inwardly rectifying channel subfamily J member 10,gene with protein product,1q23.2,The molecular basis of the disorder is known,Unknown,,602208,ENSG00000177807,objectId:438,P78508,P78508,HGNC:6256 +GARD:0022584,Orphanet+OMIM,600791,OMIM:600791,3,FOXI1,[FREAC6],forkhead box I1,gene with protein product,5q35.1,The molecular basis of the disorder is known,Unknown,,601093,ENSG00000168269,,Q12951,,HGNC:3815 +GARD:0022585,Orphanet+OMIM,600792,OMIM:600792,1,DFNB5,,"Deafness, autosomal recessive 5",unknown,14q12,The disease phenotype itself was mapped,Unknown,,600792,,,,,GeneID:1697 +GARD:0022586,Orphanet+OMIM,600971,OMIM:600971,1,TMIE,,transmembrane inner ear,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,607237,ENSG00000181585,,Q8NEW7,Q8NEW7,HGNC:30800 +GARD:0022587,Orphanet+OMIM,600974,OMIM:600974,1,TMC1,,transmembrane channel like 1,gene with protein product,9q21.13,The molecular basis of the disorder is known,Unknown,,606706,ENSG00000165091,,Q8TDI8,Q8TDI8,HGNC:16513 +GARD:0022588,Orphanet+OMIM,601071,OMIM:601071,1,OTOF,"[DFNB6, FER1L2, fer-1-like family member 2]",otoferlin,gene with protein product,2p23.3,The molecular basis of the disorder is known,Unknown,,603681,ENSG00000115155,,Q9HC10,Q9HC10,HGNC:8515 +GARD:0022589,Orphanet+OMIM,601072,OMIM:601072,1,TMPRSS3,,transmembrane serine protease 3,gene with protein product,21q22.3,The molecular basis of the disorder is known,Unknown,,605511,ENSG00000160183,,P57727,,HGNC:11877 +GARD:0022590,Orphanet+OMIM,601386,OMIM:601386,2,ATP2B2,"[PMCA2, plasma membrane Ca2+ pump 2, plasma membrane calcium-transporting ATPase 2]",ATPase plasma membrane Ca2+ transporting 2,gene with protein product,3p25.3,The molecular basis of the disorder is known,Unknown,,108733,ENSG00000157087,objectId:844,Q01814,Q01814,HGNC:815 +GARD:0022590,Orphanet+OMIM,601386,OMIM:601386,2,CDH23,"[CDHR23, cadherin-related family member 23]",cadherin related 23,gene with protein product,10q22.1,The molecular basis of the disorder is known,Unknown,,605516,ENSG00000107736,,Q9H251,Q9H251,HGNC:13733 +GARD:0022591,Orphanet+OMIM,601869,OMIM:601869,1,GIPC3,[DFNB95],GIPC PDZ domain containing family member 3,gene with protein product,19p13.3,The molecular basis of the disorder is known,Unknown,,608792,ENSG00000179855,,Q8TF64,,HGNC:18183 +GARD:0022592,Orphanet+OMIM,602092,OMIM:602092,1,USH1C,"[AIE-75, NY-CO-37, NY-CO-38, PDZ-73, PDZ73, PDZD7C, harmonin, harmonin]",USH1 protein network component harmonin,gene with protein product,11p15.1,The molecular basis of the disorder is known,Unknown,,605242,ENSG00000006611,,Q9Y6N9,Q9Y6N9,HGNC:12597 +GARD:0022593,Orphanet+OMIM,603010,OMIM:603010,1,DFNB17,,"Deafness, autosomal recessive 17",unknown,7q31,The disease phenotype itself was mapped,Unknown,,603010,,,,,GeneID:1709 +GARD:0022594,Orphanet+OMIM,603098,OMIM:603098,1,DFNB13,,"Deafness, autosomal recessive 13",unknown,7q34-q36,The disease phenotype itself was mapped,Unknown,,603098,,,,,GeneID:1705 +GARD:0022595,Orphanet+OMIM,603629,OMIM:603629,1,TECTA,,tectorin alpha,gene with protein product,11q23.3,The molecular basis of the disorder is known,Unknown,,602574,ENSG00000109927,,O75443,O75443,HGNC:11720 +GARD:0022596,Orphanet+OMIM,603678,OMIM:603678,1,DFNB14,,"Deafness, autosomal recessive 14",unknown,7q31,The disease phenotype itself was mapped,Unknown,,603678,,,,,GeneID:1706 +GARD:0022597,Orphanet+OMIM,603720,OMIM:603720,1,STRC,,stereocilin,gene with protein product,15q15.3,The molecular basis of the disorder is known,Unknown,,606440,ENSG00000242866,,Q7RTU9,Q7RTU9,HGNC:16035 +GARD:0022598,Orphanet+OMIM,604060,OMIM:604060,1,DFNB20,,"Deafness, autosomal recessive 20",unknown,11q25-qter,The disease phenotype itself was mapped,Unknown,,604060,,,,,GeneID:1713 +GARD:0022599,Orphanet+OMIM,605428,OMIM:605428,1,GAB1,,GRB2 associated binding protein 1,gene with protein product,4q31.21,The molecular basis of the disorder is known,Unknown,,604439,ENSG00000109458,,Q13480,Q13480,HGNC:4066 +GARD:0022600,Orphanet+OMIM,605818,OMIM:605818,1,DFNB27,,"Deafness, autosomal recessive 27",unknown,2q23-q31,The disease phenotype itself was mapped,Unknown,,605818,,,,,GeneID:23713 +GARD:0022601,Orphanet+OMIM,607039,OMIM:607039,1,OTOA,"[CT108, cancer/testis antigen 108]",otoancorin,gene with protein product,16p12.2,The molecular basis of the disorder is known,Unknown,,607038,ENSG00000155719,,Q7RTW8,Q7RTW8,HGNC:16378 +GARD:0022602,Orphanet+OMIM,607084,OMIM:607084,1,WHRN,"[CIP98, PDZD7B, USH2D]",whirlin,gene with protein product,9q32,The molecular basis of the disorder is known,Unknown,,607928,ENSG00000095397,,Q9P202,Q9P202,HGNC:16361 +GARD:0022603,Orphanet+OMIM,607101,OMIM:607101,1,MYO3A,,myosin IIIA,gene with protein product,10p12.1,The molecular basis of the disorder is known,Unknown,,606808,ENSG00000095777,objectId:2112,Q8NEV4,Q8NEV4,HGNC:7601 +GARD:0022604,Orphanet+OMIM,607239,OMIM:607239,1,DFNB33,,"Deafness, autosomal recessive 33",unknown,10p11.23-q21.1,The disease phenotype itself was mapped,Unknown,,607239,,,,,GeneID:170508 +GARD:0022605,Orphanet+OMIM,607821,OMIM:607821,1,MYO6,[KIAA0389],myosin VI,gene with protein product,6q14.1,The molecular basis of the disorder is known,Unknown,,600970,ENSG00000196586,,Q9UM54,Q9UM54,HGNC:7605 +GARD:0022606,Orphanet+OMIM,608219,OMIM:608219,1,DFNB38,,"Deafness, autosomal recessive 38",unknown,6q26-q27,The disease phenotype itself was mapped,Unknown,,608219,,,,,GeneID:337991 +GARD:0022607,Orphanet+OMIM,608264,OMIM:608264,1,DFNB40,,"Deafness, autosomal recessive 40",unknown,22q11.21-q12.1,The disease phenotype itself was mapped,Unknown,,608264,,,,,GeneID:379003 +GARD:0022608,Orphanet+OMIM,608265,OMIM:608265,1,HGF,"[F-TCF, HGFB, HPTA, SF, fibroblast-derived tumor cytotoxic factor, hepatopoietin A, lung fibroblast-derived mitogen, scatter factor]",hepatocyte growth factor,gene with protein product,7q21.11,The molecular basis of the disorder is known,Unknown,,142409,ENSG00000019991,ligandId:4950,P14210,P14210,HGNC:4893 +GARD:0022609,Orphanet+OMIM,608565,OMIM:608565,1,ESRRB,"[ERR2, ERRb, ERRbeta, NR3B2]",estrogen related receptor beta,gene with protein product,14q24.3,The molecular basis of the disorder is known,Unknown,,602167,ENSG00000119715,objectId:623,O95718,O95718,HGNC:3473 +GARD:0022610,Orphanet+OMIM,608653,OMIM:608653,1,CDC14A,"[Cdc14A1, Cdc14A2, DFNB105, cdc14]",cell division cycle 14A,gene with protein product,1p21.2,The molecular basis of the disorder is known,Unknown,,603504,ENSG00000079335,,Q9UNH5,Q9UNH5,HGNC:1718 +GARD:0022611,Orphanet+OMIM,609006,OMIM:609006,1,ESPN,,espin,gene with protein product,1p36.31,The molecular basis of the disorder is known,Unknown,,606351,ENSG00000187017,,B1AK53,B1AK53,HGNC:13281 +GARD:0022612,Orphanet+OMIM,609439,OMIM:609439,1,CIB2,"[KIP2, kinase interacting protein 2]",calcium and integrin binding family member 2,gene with protein product,15q25.1,The molecular basis of the disorder is known,Unknown,,605564,ENSG00000136425,,O75838,O75838,HGNC:24579 +GARD:0022613,Orphanet+OMIM,609533,OMIM:609533,1,PCDH15,"[CDHR15, cadherin-related family member 15]",protocadherin related 15,gene with protein product,10q21.1,The molecular basis of the disorder is known,Unknown,,605514,ENSG00000150275,,Q96QU1,Q96QU1,HGNC:14674 +GARD:0022614,Orphanet+OMIM,609646,OMIM:609646,1,ILDR1,"[MGC50831, angulin-2]",immunoglobulin like domain containing receptor 1,gene with protein product,3q13.33,The molecular basis of the disorder is known,Unknown,,609739,ENSG00000145103,,Q86SU0,,HGNC:28741 +GARD:0022615,Orphanet+OMIM,609647,OMIM:609647,1,DFNB46,,"Deafness, neurosensory, autosomal recessive 46",unknown,18p11.32-p11.31,The disease phenotype itself was mapped,Unknown,,609647,,,,,GeneID:449488 +GARD:0022616,Orphanet+OMIM,609706,OMIM:609706,1,COL11A2,[HKE5],collagen type XI alpha 2 chain,gene with protein product,6p21.32,The molecular basis of the disorder is known,Unknown,,120290,ENSG00000204248,,P13942,P13942,HGNC:2187 +GARD:0022617,Orphanet+OMIM,609823,OMIM:609823,1,TRIOBP,"[HRIHFB2122, KIAA1662, TAP68, Tara]",TRIO and F-actin binding protein,gene with protein product,22q13.1,The molecular basis of the disorder is known,Unknown,,609761,ENSG00000100106,,Q9H2D6,Q9H2D6,HGNC:17009 +GARD:0022618,Orphanet+OMIM,610143,OMIM:610143,1,DFNB62,,"Deafness, autosomal recessive 62",unknown,12p13.2-p11.23,The disease phenotype itself was mapped,Unknown,,610143,,,,,GeneID:692220 +GARD:0022619,Orphanet+OMIM,610153,OMIM:610153,1,MARVELD2,"[FLJ30532, TRIC, tricellulin]",MARVEL domain containing 2,gene with protein product,5q13.2,The molecular basis of the disorder is known,Unknown,,610572,ENSG00000152939,,Q8N4S9,,HGNC:26401 +GARD:0022620,Orphanet+OMIM,610154,OMIM:610154,1,ADCY1,"[AC1, adenylyl cyclase subtype 1]",adenylate cyclase 1,gene with protein product,7p12.3,The molecular basis of the disorder is known,Unknown,,103072,ENSG00000164742,objectId:1278,Q08828,Q08828,HGNC:232 +GARD:0022621,Orphanet+OMIM,610212,OMIM:610212,1,DCDC2,"[DCDC2A, KIAA1154, NPHP19, RU2, nephronophthisis 19]",doublecortin domain containing 2,gene with protein product,6p22.3,The molecular basis of the disorder is known,Unknown,,605755,ENSG00000146038,,Q9UHG0,,HGNC:18141 +GARD:0022622,Orphanet+OMIM,610220,OMIM:610220,1,PJVK,,pejvakin,gene with protein product,2q31.2,The molecular basis of the disorder is known,Unknown,,610219,ENSG00000204311,,Q0ZLH3,Q0ZLH3,HGNC:29502 +GARD:0022623,Orphanet+OMIM,610248,OMIM:610248,1,DFNB65,,"Deafness, autosomal recessive 65",unknown,20q13.2-q13.3,The disease phenotype itself was mapped,Unknown,,610248,,,,,GeneID:692219 +GARD:0022624,Orphanet+OMIM,610265,OMIM:610265,1,LHFPL5,"[MGC33835, Tmhs, dJ510O8.8, tetraspan membrane protein of hair cell stereocilia]",LHFPL tetraspan subfamily member 5,gene with protein product,6p21.31,The molecular basis of the disorder is known,Unknown,,609427,ENSG00000197753,,Q8TAF8,Q8TAF8,HGNC:21253 +GARD:0022625,Orphanet+OMIM,610419,OMIM:610419,1,S1PR2,"[AGR16, Gpcr13, H218]",sphingosine-1-phosphate receptor 2,gene with protein product,19p13.2,The molecular basis of the disorder is known,Unknown,,605111,ENSG00000267534,objectId:276,O95136,O95136,HGNC:3169 +GARD:0022626,Orphanet+OMIM,611022,OMIM:611022,1,RDX,,radixin,gene with protein product,11q22.3,The molecular basis of the disorder is known,Unknown,,179410,ENSG00000137710,,P35241,P35241,HGNC:9944 +GARD:0022627,Orphanet+OMIM,611451,OMIM:611451,1,LRTOMT,"[CFAP111, COMT2, LRTOMT1, LRTOMT2]",leucine rich transmembrane and O-methyltransferase domain containing,readthrough,11q13.4,The molecular basis of the disorder is known,Unknown,,612414,ENSG00000284922,,,,HGNC:25033 +GARD:0022628,Orphanet+OMIM,612433,OMIM:612433,1,DFNB45,,"Deafness, autosomal recessive 45",unknown,1q43-q44,The disease phenotype itself was mapped,Unknown,,612433,,,,,GeneID:449483 +GARD:0022629,Orphanet+OMIM,612645,OMIM:612645,1,GJB6,"[CX30, EDH, HED, connexin 30]",gap junction protein beta 6,gene with protein product,13q12.11,The molecular basis of the disorder is known,Unknown,,604418,ENSG00000121742,objectId:717,O95452,O95452,HGNC:4288 +GARD:0022630,Orphanet+OMIM,612789,OMIM:612789,1,DFNB71,,"Deafness, autosomal recessive 71",unknown,8p22-p21.3,The disease phenotype itself was mapped,Unknown,,612789,,,,,GeneID:100302513 +GARD:0022631,Orphanet+OMIM,613079,OMIM:613079,1,LOXHD1,"[FLJ32670, LH2D1]",lipoxygenase homology PLAT domains 1,gene with protein product,18q21.1,The molecular basis of the disorder is known,Unknown,,613072,ENSG00000167210,,Q8IVV2,,HGNC:26521 +GARD:0022632,Orphanet+OMIM,613285,OMIM:613285,1,GRXCR1,"[PPP1R88, protein phosphatase 1, regulatory subunit 88]",glutaredoxin and cysteine rich domain containing 1,gene with protein product,4p13,The molecular basis of the disorder is known,Unknown,,613283,ENSG00000215203,,A8MXD5,A8MXD5,HGNC:31673 +GARD:0022633,Orphanet+OMIM,613307,OMIM:613307,1,TPRN,[FLJ90254],taperin,gene with protein product,9q34.3,The molecular basis of the disorder is known,Unknown,,613354,ENSG00000176058,,Q4KMQ1,Q4KMQ1,HGNC:26894 +GARD:0022634,Orphanet+OMIM,613391,OMIM:613391,1,PTPRQ,[phosphatidylinositol phosphatase PTPRQ],protein tyrosine phosphatase receptor type Q,gene with protein product,12q21.31,The molecular basis of the disorder is known,Unknown,,603317,ENSG00000139304,objectId:1864,Q9UMZ3,,HGNC:9679 +GARD:0022635,Orphanet+OMIM,613392,OMIM:613392,1,DFNB85,,"Deafness, autosomal recessive 85",unknown,17p12-q11.2,The disease phenotype itself was mapped,Unknown,,613392,,,,,GeneID:100359399 +GARD:0022636,Orphanet+OMIM,613453,OMIM:613453,1,SERPINB6,"[CAP, PTI, cytoplasmic antiproteinase, placental thrombin inhibitor]",serpin family B member 6,gene with protein product,6p25.2,The molecular basis of the disorder is known,Unknown,,173321,ENSG00000124570,,P35237,P35237,HGNC:8950 +GARD:0022637,Orphanet+OMIM,613685,OMIM:613685,1,DFNB83,,"Deafness, autosomal recessive 83",unknown,9p23-p21.2,The disease phenotype itself was mapped,Unknown,,613685,,,,,GeneID:100359400 +GARD:0022638,Orphanet+OMIM,613718,OMIM:613718,1,MSRB3,"[DKFZp686C1178, FLJ36866]",methionine sulfoxide reductase B3,gene with protein product,12q14.3,The molecular basis of the disorder is known,Unknown,,613719,ENSG00000174099,,Q8IXL7,Q8IXL7,HGNC:27375 +GARD:0022639,Orphanet+OMIM,613865,OMIM:613865,1,SLC26A5,"[61, DFNB61, autosomal recessive, deafness, neurosensory]",solute carrier family 26 member 5,gene with protein product,7q22.1,The molecular basis of the disorder is known,Unknown,,604943,ENSG00000170615,objectId:1104,P58743,P58743,HGNC:9359 +GARD:0022640,Orphanet+OMIM,613916,OMIM:613916,1,KARS1,"[KARS2, lysine tRNA ligase]",lysyl-tRNA synthetase 1,gene with protein product,16q23.1,The molecular basis of the disorder is known,Unknown,,601421,ENSG00000065427,,Q15046,Q15046,HGNC:6215 +GARD:0022641,Orphanet+OMIM,614035,OMIM:614035,1,CLDN14,,claudin 14,gene with protein product,21q22.13,The molecular basis of the disorder is known,Unknown,,605608,ENSG00000159261,,O95500,O95500,HGNC:2035 +GARD:0022642,Orphanet+OMIM,614414,OMIM:614414,1,DFNB96,,"Deafness, autosomal recessive 96",unknown,1p36.31-p36.13,The disease phenotype itself was mapped,Unknown,,614414,,,,,GeneID:100861440 +GARD:0022643,Orphanet+OMIM,614617,OMIM:614617,1,TBC1D24,"[DFNA65, KIAA1171, TBC/LysM-associated domain containing 6, TLDC6, autosomal dominant 65, deafness, skywalker homolog (Drosophila)]",TBC1 domain family member 24,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,613577,ENSG00000162065,,Q9ULP9,Q9ULP9,HGNC:29203 +GARD:0022644,Orphanet+OMIM,614861,OMIM:614861,1,TSPEAR,"[MGC11251, TSP-EAR]",thrombospondin type laminin G domain and EAR repeats,gene with protein product,21q22.3,The molecular basis of the disorder is known,Unknown,,612920,ENSG00000175894,,Q8WU66,,HGNC:1268 +GARD:0022645,Orphanet+OMIM,614899,OMIM:614899,1,CABP2,,calcium binding protein 2,gene with protein product,11q13.2,The molecular basis of the disorder is known,Unknown,,607314,ENSG00000167791,,Q9NPB3,Q9NPB3,HGNC:1385 +GARD:0022646,Orphanet+OMIM,614934,OMIM:614934,1,PNPT1,"[3'-5' RNA exonuclease, OLD35, PNPase, old-35, polynucleotide phosphorylase]",polyribonucleotide nucleotidyltransferase 1,gene with protein product,2p16.1,The molecular basis of the disorder is known,Unknown,,610316,ENSG00000138035,,Q8TCS8,,HGNC:23166 +GARD:0022647,Orphanet+OMIM,614944,OMIM:614944,1,OTOGL,[FLJ90579],otogelin like,gene with protein product,12q21.31,The molecular basis of the disorder is known,Unknown,,614925,ENSG00000165899,,Q3ZCN5,Q3ZCN5,HGNC:26901 +GARD:0022648,Orphanet+OMIM,614945,OMIM:614945,1,OTOG,"[FLJ46346, OTGN, mlemp]",otogelin,gene with protein product,11p15.1,The molecular basis of the disorder is known,Unknown,,604487,ENSG00000188162,,Q6ZRI0,Q6ZRI0,HGNC:8516 +GARD:0022649,Orphanet+OMIM,615429,OMIM:615429,1,ELMOD3,[FLJ21977],ELMO domain containing 3,gene with protein product,2p11.2,The molecular basis of the disorder is known,Unknown,,615427,ENSG00000115459,,Q96FG2,,HGNC:26158 +GARD:0022650,Orphanet+OMIM,615540,OMIM:615540,1,SYNE4,"[FLJ36445, Nesp4, Nesprin-4]",spectrin repeat containing nuclear envelope family member 4,gene with protein product,19q13.12,The molecular basis of the disorder is known,Unknown,,615535,ENSG00000181392,,Q8N205,,HGNC:26703 +GARD:0022651,Orphanet+OMIM,615837,OMIM:615837,1,GRXCR2,[DFNB101],glutaredoxin and cysteine rich domain containing 2,gene with protein product,5q32,The molecular basis of the disorder is known,Unknown,,615762,ENSG00000204928,,A6NFK2,A6NFK2,HGNC:33862 +GARD:0022652,Orphanet+OMIM,615974,OMIM:615974,1,EPS8,,epidermal growth factor receptor pathway substrate 8,gene with protein product,12p12.3,The molecular basis of the disorder is known,Unknown,,600206,ENSG00000151491,,Q12929,Q12929,HGNC:3420 +GARD:0022653,Orphanet+OMIM,616042,OMIM:616042,1,CLIC5,[DFNB102],chloride intracellular channel 5,gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,607293,ENSG00000112782,,Q9NZA1,Q9NZA1,HGNC:13517 +GARD:0022654,Orphanet+OMIM,616515,OMIM:616515,1,RIPOR2,"[DIFF48, KIAA0386, MYONAP, myogenesis-related and NCAM-associated protein homolog (chicken)]",RHO family interacting cell polarization regulator 2,gene with protein product,6p22.3,The molecular basis of the disorder is known,Unknown,,611410,ENSG00000111913,,Q9Y4F9,Q9Y4F9,HGNC:13872 +GARD:0022655,Orphanet+OMIM,616705,OMIM:616705,1,MET,"[DFNB97, HGFR, RCCP2, hepatocyte growth factor receptor]","MET proto-oncogene, receptor tyrosine kinase",gene with protein product,7q31.2,The molecular basis of the disorder is known,Unknown,,164860,ENSG00000105976,objectId:1815,P08581,P08581,HGNC:7029 +GARD:0022656,Orphanet+OMIM,617637,OMIM:617637,1,EPS8L2,"[FLJ21935, FLJ22171, MGC3088]",EPS8 like 2,gene with protein product,11p15.5,The molecular basis of the disorder is known,Unknown,,614988,ENSG00000177106,,Q9H6S3,Q9H6S3,HGNC:21296 +GARD:0022657,Orphanet+OMIM,617639,OMIM:617639,1,WBP2,"[GRAMD6, WBP-2]",WW domain binding protein 2,gene with protein product,17q25.1,The molecular basis of the disorder is known,Unknown,,606962,ENSG00000132471,,Q969T9,,HGNC:12738 +GARD:0022658,Orphanet+OMIM,617654,OMIM:617654,1,ROR1,,receptor tyrosine kinase like orphan receptor 1,gene with protein product,1p31.3,The molecular basis of the disorder is known,Unknown,,602336,ENSG00000185483,objectId:1845,Q01973,Q01973,HGNC:10256 +GARD:0022659,Orphanet+OMIM,618145,OMIM:618145,1,MPZL2,[EVA],myelin protein zero like 2,gene with protein product,11q23.3,The molecular basis of the disorder is known,Unknown,,604873,ENSG00000149573,,O60487,,HGNC:3496 +GARD:0022660,Orphanet+OMIM,618422,OMIM:618422,1,PPIP5K2,"[CFAP160, KIAA0433, VIP2]",diphosphoinositol pentakisphosphate kinase 2,gene with protein product,5q21.1,The molecular basis of the disorder is known,Unknown,,611648,ENSG00000145725,,O43314,O43314,HGNC:29035 +GARD:0022661,Orphanet+OMIM,618434,OMIM:618434,1,NARS2,"[FLJ23441, SLM5, asparagine tRNA ligase 2, mitochondrial (putative)]","asparaginyl-tRNA synthetase 2, mitochondrial",gene with protein product,11q14.1,The molecular basis of the disorder is known,Unknown,,612803,ENSG00000137513,,Q96I59,Q96I59,HGNC:26274 +GARD:0022662,Orphanet+OMIM,618456,OMIM:618456,1,GRAP,,GRB2 related adaptor protein,gene with protein product,17p11.2,The molecular basis of the disorder is known,Unknown,,604330,ENSG00000154016,,Q13588,Q13588,HGNC:4562 +GARD:0022663,Orphanet+OMIM,618481,OMIM:618481,1,TMEM132E,[DFNB99],transmembrane protein 132E,gene with protein product,17q12,The molecular basis of the disorder is known,Unknown,,616178,ENSG00000181291,,Q6IEE7,,HGNC:26991 +GARD:0022664,Orphanet+OMIM,619093,OMIM:619093,1,CLDN9,,claudin 9,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,615799,ENSG00000213937,,O95484,O95484,HGNC:2051 +GARD:0022665,Orphanet+OMIM,619174,OMIM:619174,1,CLRN2,[DFNB117],clarin 2,gene with protein product,4p15.32,The molecular basis of the disorder is known,Unknown,,618988,ENSG00000249581,,A0PK11,,HGNC:33939 +GARD:0022666,Orphanet+OMIM,300046,OMIM:300046,1,MRX23,[XLID23],"Intellectual developmental disorder, X-linked 23",unknown,Xq23-q24,The disease phenotype itself was mapped,Unknown,,300046,,,,,GeneID:4387 +GARD:0022667,Orphanet+OMIM,300047,OMIM:300047,1,MRX20,[XLID20],"Intellectual developmental disorder, X-linked 20",unknown,Xp11-q21,The disease phenotype itself was mapped,Unknown,,300047,,,,,GeneID:4384 +GARD:0022668,Orphanet+OMIM,300115,OMIM:300115,1,SYN1,[Synapsin-1],synapsin I,gene with protein product,Xp11.3-p11.23,The molecular basis of the disorder is known,Unknown,,313440,ENSG00000008056,,P17600,P17600,HGNC:11494 +GARD:0022669,Orphanet+OMIM,300143,OMIM:300143,1,IL1RAPL1,"[IL1R8, OPHN4, TIGIRR-2]",interleukin 1 receptor accessory protein like 1,gene with protein product,Xp21.3-p21.2,The molecular basis of the disorder is known,Unknown,,300206,ENSG00000169306,,Q9NZN1,Q9NZN1,HGNC:5996 +GARD:0022670,Orphanet+OMIM,300210,OMIM:300210,1,TSPAN7,"[A15, CD231, DXS1692E, TALLA-1]",tetraspanin 7,gene with protein product,Xp11.4,The molecular basis of the disorder is known,Unknown,,300096,ENSG00000156298,,P41732,P41732,HGNC:11854 +GARD:0022671,Orphanet+OMIM,300271,OMIM:300271,1,RAB39B,,"RAB39B, member RAS oncogene family",gene with protein product,Xq28,The molecular basis of the disorder is known,Unknown,,300774,ENSG00000155961,,Q96DA2,Q96DA2,HGNC:16499 +GARD:0022672,Orphanet+OMIM,300324,OMIM:300324,1,MRX53,[XLID53],"Intellectual developmental disorder, X-linked 53",unknown,Xq22.2-q26,The disease phenotype itself was mapped,Unknown,,300324,,,,,GeneID:4416 +GARD:0022673,Orphanet+OMIM,300355,OMIM:300355,1,MRX73,[XLID73],"Intellectual developmental disorder, X-linked 73",unknown,Xp22.2,The disease phenotype itself was mapped,Unknown,,300355,,,,,GeneID:23694 +GARD:0022674,Orphanet+OMIM,300372,OMIM:300372,1,MRX42,[XLID42],"Intellectual developmental disorder, X-linked 42",unknown,Xq26,The disease phenotype itself was mapped,Unknown,,300372,,,,,GeneID:4406 +GARD:0022675,Orphanet+OMIM,300428,OMIM:300428,1,XLID2,[MRX2],"Intellectual developmental disorder, X-linked 2",,Xp22.3,The disease phenotype itself was mapped,Unknown,,300428,,,,,OMIM:300428 +GARD:0022676,Orphanet+OMIM,300433,OMIM:300433,1,MRX81,[XLID81],"Intellectual developmental disorder, X-linked 81",unknown,Xp11.2-q12,The disease phenotype itself was mapped,Unknown,,300433,,,,,GeneID:266678 +GARD:0022677,Orphanet+OMIM,300436,OMIM:300436,1,XLID46,[MRX46],"Intellectual developmental disorder, X-linked 56",,Xq25-q26,The disease phenotype itself was mapped,Unknown,,300436,,,,,OMIM:300436 +GARD:0022678,Orphanet+OMIM,300454,OMIM:300454,1,MRX77,[XLID77],"Intellectual developmental disorder, X-linked 77",unknown,Xq12-q21.3,The disease phenotype itself was mapped,Unknown,,300454,,,,,GeneID:93991 +GARD:0022679,Orphanet+OMIM,300498,OMIM:300498,1,XLID45,[MRX45],"Intellectual developmental disorder, X-linked 45",,Xp11.3-p11.21,The disease phenotype itself was mapped,Unknown,,300498,,,,,OMIM:300498 +GARD:0022680,Orphanet+OMIM,300505,OMIM:300505,1,MRX84,[XLID84],"Intellectual developmental disorder, X-linked 84",unknown,Xp11.3-q22.3,The disease phenotype itself was mapped,Unknown,,300505,,,,,GeneID:378882 +GARD:0022681,Orphanet+OMIM,300518,OMIM:300518,1,MRX82,[XLID82],"Intellectual developmental disorder, X-linked 82",unknown,Xq24-q25,The disease phenotype itself was mapped,Unknown,,300518,,,,,GeneID:378484 +GARD:0022682,Orphanet+OMIM,300558,OMIM:300558,1,PAK3,"[bPAK, hPAK3]",p21 (RAC1) activated kinase 3,gene with protein product,Xq23,The molecular basis of the disorder is known,Unknown,,300142,ENSG00000077264,objectId:2135,O75914,O75914,HGNC:8592 +GARD:0022683,Orphanet+OMIM,300705,OMIM:300705,1,DUPXp11.22,"[MRX17, MRX31]",Xp11.22 microduplication syndrome,,Xp11.22,The disorder is a chromosome deletion or duplication syndrome,Unknown,,300705,,,,,OMIM:300705 +GARD:0022684,Orphanet+OMIM,300716,OMIM:300716,1,MRX95,[XLID95],"Intellectual developmental disorder, X-linked 95",unknown,Chr.X,The disease phenotype itself was mapped,Unknown,,300716,,,,,GeneID:102775568 +GARD:0022685,Orphanet+OMIM,300802,OMIM:300802,1,SYP,[MRX96],synaptophysin,gene with protein product,Xp11.23,The molecular basis of the disorder is known,Unknown,,313475,ENSG00000102003,,P08247,P08247,HGNC:11506 +GARD:0022686,Orphanet+OMIM,300803,OMIM:300803,1,ZNF711,"[CMPX1, MRX97, ZNF4, ZNF5, Zfp711, dJ75N13.1]",zinc finger protein 711,gene with protein product,Xq21.1,The molecular basis of the disorder is known,Unknown,,314990,ENSG00000147180,,Q9Y462,Q9Y462,HGNC:13128 +GARD:0022687,Orphanet+OMIM,300844,OMIM:300844,1,RPS6KA3,"[HU-3, RSK2]",ribosomal protein S6 kinase A3,gene with protein product,Xp22.12,The molecular basis of the disorder is known,Unknown,,300075,ENSG00000177189,objectId:1528,P51812,P51812,HGNC:10432 +GARD:0022688,Orphanet+OMIM,300848,OMIM:300848,1,XLID89,[MRX89],"Intellectual developmental disorder, X-linked 89",,Xp11.3,The disease phenotype itself was mapped,Unknown,,300848,,,,,OMIM:300848 +GARD:0022689,Orphanet+OMIM,300849,OMIM:300849,1,GDI1,"[FLJ41411, OPHN2, RABGDIA, X-linked 41, X-linked 48, XAP-4, alpha, mental retardation, mental retardation, rab GDP-dissociation inhibitor]",GDP dissociation inhibitor 1,gene with protein product,Xq28,The molecular basis of the disorder is known,Unknown,,300104,ENSG00000203879,,P31150,P31150,HGNC:4226 +GARD:0022690,Orphanet+OMIM,300850,OMIM:300850,1,DLG3,"[KIAA1232, MRX90, NE-Dlg, NEDLG, PPP1R82, SAP-102, SAP102, neuroendocrine-dlg, protein phosphatase 1, regulatory subunit 82, synapse associated protein 102]",discs large MAGUK scaffold protein 3,gene with protein product,Xq13.1,The molecular basis of the disorder is known,Unknown,,300189,ENSG00000082458,,Q92796,Q92796,HGNC:2902 +GARD:0022691,Orphanet+OMIM,300851,OMIM:300851,1,MRX92,[XLID92],"Intellectual developmental disorder, X-linked 92",unknown,Xp11.3,The disease phenotype itself was mapped,Unknown,,300851,,,,,GeneID:102775565 +GARD:0022692,Orphanet+OMIM,300852,OMIM:300852,1,MRX88,[XLID88],"Intellectual developmental disorder, X-linked 88",unknown,Xq24,The disease phenotype itself was mapped,Unknown,,300852,,,,,GeneID:105463129 +GARD:0022693,Orphanet+OMIM,300919,OMIM:300919,1,USP9X,"[DFFRX, FAF, MRX99]",ubiquitin specific peptidase 9 X-linked,gene with protein product,Xp11.4,The molecular basis of the disorder is known,Unknown,,300072,ENSG00000124486,,Q93008,Q93008,HGNC:12632 +GARD:0022694,Orphanet+OMIM,300928,OMIM:300928,1,MID2,"[FXY2, MRX101, RNF60, TRIM1]",midline 2,gene with protein product,Xq22.3,The molecular basis of the disorder is known,Unknown,,300204,ENSG00000080561,,Q9UJV3,,HGNC:7096 +GARD:0022695,Orphanet+OMIM,300978,OMIM:300978,1,RLIM,"[E3 ubiquitin-protein ligase RLIM, LIM domain interacting ring finger protein, MGC15161, NY-REN-43, ring zinc finger protein NY-REN-43antigen]","ring finger protein, LIM domain interacting",gene with protein product,Xq13.2,The molecular basis of the disorder is known,Unknown,,300379,ENSG00000131263,,Q9NVW2,Q9NVW2,HGNC:13429 +GARD:0022696,Orphanet+OMIM,300983,OMIM:300983,1,FRMPD4,[KIAA0316],FERM and PDZ domain containing 4,gene with protein product,Xp22.2,The molecular basis of the disorder is known,Unknown,,300838,ENSG00000169933,,Q14CM0,,HGNC:29007 +GARD:0022697,Orphanet+OMIM,300984,OMIM:300984,1,USP27X,[USP27],ubiquitin specific peptidase 27 X-linked,gene with protein product,Xp11.23,The molecular basis of the disorder is known,Unknown,,300975,ENSG00000273820,,A6NNY8,,HGNC:13486 +GARD:0022698,Orphanet+OMIM,301013,OMIM:301013,1,STEEP1,[FLJ22965],STING1 ER exit protein 1,gene with protein product,Xq24,The molecular basis of the disorder is known,Unknown,,301012,ENSG00000018610,,Q9H5V9,,HGNC:26239 +GARD:0022699,Orphanet+OMIM,309530,OMIM:309530,1,IQSEC2,"[BRAG1, IQ-ArfGEF, KIAA0522, brefeldin A resistant Arf-guanine nucleotide exchange factor 1]",IQ motif and Sec7 domain ArfGEF 2,gene with protein product,Xp11.22,The molecular basis of the disorder is known,Unknown,,300522,ENSG00000124313,,Q5JU85,,HGNC:29059 +GARD:0022700,Orphanet+OMIM,309549,OMIM:309549,1,FTSJ1,"[CDLIV, JM23, SPB1, TRM7, TRMT7, tRNA methyltransferase 7 homolog (S. cerevisiae)]",FtsJ RNA 2'-O-methyltransferase 1,gene with protein product,Xp11.23,The molecular basis of the disorder is known,Unknown,,300499,ENSG00000068438,,Q9UET6,Q9UET6,HGNC:13254 +GARD:0000001,Orphanet,53693,ORPHA:53693,1,BCS1L,"[BCS, BJS, Bjornstad syndrome, GRACILE syndrome, Hs.6719, h-BCS]","BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone",gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:12215968],603647,ENSG00000074582,,Q9Y276,Q9Y276,HGNC:1020 +GARD:0000003,Orphanet,920,ORPHA:920,1,TWIST2,"[DERMO1, Dermo-1, bHLHa39]",twist family bHLH transcription factor 2,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26119818],607556,ENSG00000233608,,Q8WVJ9,Q8WVJ9,HGNC:20670 +GARD:0000005,Orphanet,14,ORPHA:14,1,MTTP,[ABL],microsomal triglyceride transfer protein,gene with protein product,4q23,Disease-causing germline mutation(s) in,Assessed,"[PMID:22378282, PMID:23556456, PMID:24288038]",157147,ENSG00000138823,,P55157,P55157,HGNC:7467 +GARD:0000007,Orphanet,969,ORPHA:969,2,FBN1,"[MASS, Marfan syndrome, OCTD, SGS, asprosin]",fibrillin 1,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21683322],134797,ENSG00000166147,,P35555,P35555,HGNC:3603 +GARD:0000007,Orphanet,969,ORPHA:969,2,LTBP3,,latent transforming growth factor beta binding protein 3,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27068007],602090,ENSG00000168056,,Q9NS15,Q9NS15,HGNC:6716 +GARD:0000011,Orphanet,2131,ORPHA:2131,4,CACNA1A,"[APCA, Cav2.1, EA2, FHM, HPCA]",calcium voltage-gated channel subunit alpha1 A,gene with protein product,19p13.13,Candidate gene tested in,Not yet assessed,[PMID:18498393],601011,ENSG00000141837,532,O00555,O00555,HGNC:1388 +GARD:0000011,Orphanet,2131,ORPHA:2131,4,ATP1A2,"[FHM2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2, sodium/potassium-transporting ATPase subunit alpha-2]",ATPase Na+/K+ transporting subunit alpha 2,gene with protein product,1q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:15286158],182340,ENSG00000018625,834,P50993,P50993,HGNC:800 +GARD:0000011,Orphanet,2131,ORPHA:2131,4,ATP1A3,"[sodium pump subunit alpha-3, sodium-potassium ATPase catalytic subunit alpha-3, sodium/potassium-transporting ATPase subunit alpha-3]",ATPase Na+/K+ transporting subunit alpha 3,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22842232],182350,ENSG00000105409,835,P13637,P13637,HGNC:801 +GARD:0000011,Orphanet,2131,ORPHA:2131,4,SLC1A3,"[EA6, EAAT1, GLAST]",solute carrier family 1 member 3,gene with protein product,5p13.2,Candidate gene tested in,Not yet assessed,,600111,ENSG00000079215,868,P43003,P43003,HGNC:10941 +GARD:0000013,Orphanet,1065,ORPHA:1065,2,PAX6,"[AN, Aniridia 1, Aniridia 2, D11S812E, WAGR, aniridia, keratitis]",paired box 6,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:17148041, PMID:17595013]",607108,ENSG00000007372,,P26367,P26367,HGNC:8620 +GARD:0000013,Orphanet,1065,ORPHA:1065,2,ITPR1,"[ACV, IP3R1, Insp3r1, PPP1R94, protein phosphatase 1, regulatory subunit 94]","inositol 1,4,5-trisphosphate receptor type 1",gene with protein product,3p26.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:27108797, PMID:27108798]",147265,ENSG00000150995,743,Q14643,Q14643,HGNC:6180 +GARD:0000019,Orphanet,1675,ORPHA:1675,1,DPYD,"[DHPDHase, DPD, Dihydrothymine dehydrogenase, Dihydrouracil dehydrogenase]",dihydropyrimidine dehydrogenase,gene with protein product,1p21.3,Disease-causing germline mutation(s) in,Assessed,,612779,ENSG00000188641,3102,Q12882,Q12882,HGNC:3012 +GARD:0000022,Orphanet,123,ORPHA:123,1,BCS1L,"[BCS, BJS, Bjornstad syndrome, GRACILE syndrome, Hs.6719, h-BCS]","BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone",gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,"[PMID:17314340, PMID:24172246, PMID:24236502]",603647,ENSG00000074582,,Q9Y276,Q9Y276,HGNC:1020 +GARD:0000028,Orphanet,1388,ORPHA:1388,1,TGDS,"[SDR2E1, TDPGD, short chain dehydrogenase/reductase family 2E, member 1]","TDP-glucose 4,6-dehydratase",gene with protein product,13q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25480037],616146,ENSG00000088451,,O95455,,HGNC:20324 +GARD:0000029,Orphanet,138,ORPHA:138,2,CHD7,"[FLJ20357, FLJ20361, KIAA1416]",chromodomain helicase DNA binding protein 7,gene with protein product,8q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301296],608892,ENSG00000171316,,Q9P2D1,,HGNC:20626 +GARD:0000029,Orphanet,138,ORPHA:138,2,SEMA3E,"[KIAA0331, M-SemaK, M-sema H, coll-5]",semaphorin 3E,gene with protein product,7q21.11,Candidate gene tested in,Not yet assessed,[PMID:15235037],608166,ENSG00000170381,,O15041,O15041,HGNC:10727 +GARD:0000044,Orphanet,2342,ORPHA:2342,1,CTSC,"[DPP1, dipeptidyl peptidase 1]",cathepsin C,gene with protein product,11q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:10662807],602365,ENSG00000109861,2344,P53634,P53634,HGNC:2528 +GARD:0000047,Orphanet,79234,ORPHA:79234,1,UGT1A1,[UGT1A],UDP glucuronosyltransferase family 1 member A1,gene with protein product,2q37.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:9039987, PMID:9497253]",191740,ENSG00000241635,2990,P22309,P22309,HGNC:12530 +GARD:0000048,Orphanet,254905,ORPHA:254905,13,COX6B1,[COXG],cytochrome c oxidase subunit 6B1,gene with protein product,19q13.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:18499082, PMID:24781756]",124089,ENSG00000126267,,P14854,P14854,HGNC:2280 +GARD:0000048,Orphanet,254905,ORPHA:254905,13,COX5A,,cytochrome c oxidase subunit 5A,gene with protein product,15q24.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28247525],603773,ENSG00000178741,,P20674,P20674,HGNC:2267 +GARD:0000048,Orphanet,254905,ORPHA:254905,13,MT-CO2,"[CO2, COX2]",mitochondrially encoded cytochrome c oxidase II,gene with protein product,mitochondria,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10205264, PMID:10486321, PMID:11471180, PMID:11558799, PMID:11579424]",516040,ENSG00000198712,,P00403,P00403,HGNC:7421 +GARD:0000048,Orphanet,254905,ORPHA:254905,13,COX4I1,[COX4-1],cytochrome c oxidase subunit 4I1,gene with protein product,16q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:31290619],123864,ENSG00000131143,,P13073,P13073,HGNC:2265 +GARD:0000048,Orphanet,254905,ORPHA:254905,13,COA3,"[COX25, HSPC009, MITRAC12]",cytochrome c oxidase assembly factor 3,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25604084],614775,ENSG00000183978,,Q9Y2R0,,HGNC:24990 +GARD:0000048,Orphanet,254905,ORPHA:254905,13,COX6A2,,cytochrome c oxidase subunit 6A2,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31155743],602009,ENSG00000156885,,Q02221,,HGNC:2279 +GARD:0000048,Orphanet,254905,ORPHA:254905,13,COX10,"[heme O synthase, protoheme IX farnesyltransferase, mitochondrial]",cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10,gene with protein product,17p12,Disease-causing germline mutation(s) in,Assessed,"[PMID:10767350, PMID:12928484, PMID:15455402]",602125,ENSG00000006695,,Q12887,Q12887,HGNC:2260 +GARD:0000048,Orphanet,254905,ORPHA:254905,13,COX8A,"[COX, COX8-2, COX8L, VIII, VIII-L]",cytochrome c oxidase subunit 8A,gene with protein product,11q13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26685157],123870,ENSG00000176340,,P10176,P10176,HGNC:2294 +GARD:0000048,Orphanet,254905,ORPHA:254905,13,MT-CO3,"[CO3, COIII, COX3]",mitochondrially encoded cytochrome c oxidase III,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:11063732, PMID:11579424, PMID:12414820, PMID:8630495, PMID:9634511]",516050,ENSG00000198938,,P00414,P00414,HGNC:7422 +GARD:0000048,Orphanet,254905,ORPHA:254905,13,COX20,[FLJ43269],cytochrome c oxidase assembly factor COX20,gene with protein product,1q44,Disease-causing germline mutation(s) in,Assessed,[PMID:23125284],614698,ENSG00000203667,,Q5RI15,Q5RI15,HGNC:26970 +GARD:0000048,Orphanet,254905,ORPHA:254905,13,MT-CO1,"[COI, COX1]",mitochondrially encoded cytochrome c oxidase I,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:11579424, PMID:12140182, PMID:16284789]",516030,ENSG00000198804,,P00395,P00395,HGNC:7419 +GARD:0000048,Orphanet,254905,ORPHA:254905,13,PET117,[CSRP2BP],PET117 cytochrome c oxidase chaperone,gene with protein product,20p11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:28386624],614771,ENSG00000232838,,Q6UWS5,,HGNC:40045 +GARD:0000048,Orphanet,254905,ORPHA:254905,13,COX14,[MGC14288],cytochrome c oxidase assembly factor COX14,gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:22243966],614478,ENSG00000178449,,Q96I36,Q96I36,HGNC:28216 +GARD:0000059,Orphanet,1955,ORPHA:1955,1,ELOVL4,"[CT118, cancer/testis antigen 118]",ELOVL fatty acid elongase 4,gene with protein product,6q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24566826],605512,ENSG00000118402,,Q9GZR5,Q9GZR5,HGNC:14415 +GARD:0000062,Orphanet,3255,ORPHA:3255,1,CKAP2L,"[FLJ40629, radial fiber and mitotic spindle, radmis]",cytoskeleton associated protein 2 like,gene with protein product,2q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25439729],616174,ENSG00000169607,,Q8IYA6,,HGNC:26877 +GARD:0000065,Orphanet,2065,ORPHA:2065,8,OSGEP,"[GCPL1, KAE1, OSGEP1, PRSMG1, TCS3]",O-sialoglycoprotein endopeptidase,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28805828],610107,ENSG00000092094,,Q9NPF4,Q9NPF4,HGNC:18028 +GARD:0000065,Orphanet,2065,ORPHA:2065,8,NUP133,[FLJ10814],nucleoporin 133,gene with protein product,1q42.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30427554],607613,ENSG00000069248,,Q8WUM0,Q8WUM0,HGNC:18016 +GARD:0000065,Orphanet,2065,ORPHA:2065,8,WDR4,"[TRM82, TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae), TRMT82, Wuho]",WD repeat domain 4,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30079490],605924,ENSG00000160193,,P57081,P57081,HGNC:12756 +GARD:0000065,Orphanet,2065,ORPHA:2065,8,TPRKB,"[CGI-121, CGI121]",TP53RK binding protein,gene with protein product,2p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28805828],608680,ENSG00000144034,,Q9Y3C4,Q9Y3C4,HGNC:24259 +GARD:0000065,Orphanet,2065,ORPHA:2065,8,LAGE3,"[CVG5, DNA segment on chromosome X (unique) 9879 expressed sequence, DXS9879E, DXS9951E, ESO3, ITBA2, Pcc1]",L antigen family member 3,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:28805828],300060,ENSG00000196976,,Q14657,Q14657,HGNC:26058 +GARD:0000065,Orphanet,2065,ORPHA:2065,8,NUP107,"[NUP84, nuclear pore complex protein Nup107]",nucleoporin 107,gene with protein product,12q15,Disease-causing germline mutation(s) in,Assessed,[PMID:28280135],607617,ENSG00000111581,,P57740,P57740,HGNC:29914 +GARD:0000065,Orphanet,2065,ORPHA:2065,8,WDR73,"[FLJ14888, HSPC264]",WD repeat domain 73,gene with protein product,15q25.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25466283],616144,ENSG00000177082,,Q6P4I2,,HGNC:25928 +GARD:0000065,Orphanet,2065,ORPHA:2065,8,TP53RK,"[BUD32, Nori-2p, TPRKB, dJ101A2.2, p53-related protein kinase, prpk]",TP53 regulating kinase,gene with protein product,20q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:28805828],608679,ENSG00000172315,2248,Q96S44,Q96S44,HGNC:16197 +GARD:0000066,Orphanet,2095,ORPHA:2095,1,SLC25A24,"[APC1, DKFZp586G0123]",solute carrier family 25 member 24,gene with protein product,1p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29100093],608744,ENSG00000085491,1077,Q6NUK1,,HGNC:20662 +GARD:0000073,Orphanet,101088,ORPHA:101088,1,CD40LG,"[CD154, CD40 antigen ligand, CD40L, T-B cell-activating molecule, TNF-related activation protein, TRAP, gp39, hCD40L, hyper-IgM syndrome, tumor necrosis factor (ligand) superfamily member 5]",CD40 ligand,gene with protein product,Xq26.3,Disease-causing germline mutation(s) in,Assessed,,300386,ENSG00000102245,,P29965,P29965,HGNC:11935 +GARD:0000079,Orphanet,33067,ORPHA:33067,1,PTH1R,,parathyroid hormone 1 receptor,gene with protein product,3p21.31,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:7701349, PMID:8703170]",168468,ENSG00000160801,331,Q03431,Q03431,HGNC:9608 +GARD:0000080,Orphanet,2315,ORPHA:2315,1,UBR1,,ubiquitin protein ligase E3 component n-recognin 1,gene with protein product,15q15.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:16311597, PMID:21931868, PMID:23652379]",605981,ENSG00000159459,,Q8IWV7,Q8IWV7,HGNC:16808 +GARD:0000081,Orphanet+OMIM,309590,OMIM:309590,1,HUWE1,"[Ib772, KIAA0312, UREB1]","HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1",gene with protein product,Xp11.22,The molecular basis of the disorder is known,Unknown,,300697,ENSG00000086758,,Q7Z6Z7,Q7Z6Z7,HGNC:30892 +GARD:0000082,Orphanet,2332,ORPHA:2332,1,ANKRD11,"[LZ16, T13]",ankyrin repeat domain containing 11,gene with protein product,16q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21782149, PMID:23184435]",611192,ENSG00000167522,,Q6UB99,,HGNC:21316 +GARD:0000083,Orphanet,93325,ORPHA:93325,1,FAM111A,"[FLJ22794, KIAA1895]",FAM111 trypsin like peptidase A,gene with protein product,11q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23684011],615292,ENSG00000166801,,Q96PZ2,,HGNC:24725 +GARD:0000084,Orphanet+OMIM,608594,OMIM:608594,1,AGPAT2,"[1-acyl-sn-glycerol-3-phosphate acyltransferase beta, LPAAT-beta, LPLAT2, lysophosphatidic acid acyltransferase-beta, lysophospholipid acyltransferase 2]",1-acylglycerol-3-phosphate O-acyltransferase 2,gene with protein product,9q34.3,The molecular basis of the disorder is known,Unknown,,603100,ENSG00000169692,,O15120,O15120,HGNC:325 +GARD:0000086,Orphanet,314597,ORPHA:314597,1,GPSM2,"[LGN, Pins]",G protein signaling modulator 2,gene with protein product,1p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22578326],609245,ENSG00000121957,,P81274,P81274,HGNC:29501 +GARD:0000087,Orphanet,568,ORPHA:568,2,NAA10,"[DXS707, TE2, arrest defective protein 1]","N-alpha-acetyltransferase 10, NatA catalytic subunit",gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:24431331],300013,ENSG00000102030,,P41227,P41227,HGNC:18704 +GARD:0000087,Orphanet,568,ORPHA:568,2,BCOR,"[BCL-6 coreceptor, BCL6 interacting corepressor, FLJ20285, KIAA1575]",BCL6 corepressor,gene with protein product,Xp11.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:15004558, PMID:20301694]",300485,ENSG00000183337,,Q6W2J9,Q6W2J9,HGNC:20893 +GARD:0000092,Orphanet,87503,ORPHA:87503,1,SLURP1,"[ANUP, ARS, ARS component B, ArsB, LY6-MT, LY6LS, MDM, lymphocyte antigen 6-like secreted]",secreted LY6/PLAUR domain containing 1,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:12483299, PMID:20854438]",606119,ENSG00000126233,,P55000,,HGNC:18746 +GARD:0000093,Orphanet,573,ORPHA:573,4,KRT86,"[Hb6, MNX, hard keratin type II 6]",keratin 86,gene with protein product,12q13,Disease-causing germline mutation(s) in,Assessed,"[PMID:22670615, PMID:9241275]",601928,ENSG00000170442,,O43790,O43790,HGNC:6463 +GARD:0000093,Orphanet,573,ORPHA:573,4,KRT83,"[Hb-3, hard keratin type II]",keratin 83,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:15744029],602765,ENSG00000170523,,P78385,P78385,HGNC:6460 +GARD:0000093,Orphanet,573,ORPHA:573,4,KRT81,"[Hb-1, hard keratin type II 1]",keratin 81,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:9402962, PMID:9665406]",602153,ENSG00000205426,,Q14533,Q14533,HGNC:6458 +GARD:0000093,Orphanet,573,ORPHA:573,4,DSG4,"[CDHF13, LAH]",desmoglein 4,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:16575393, PMID:21495994]",607892,ENSG00000175065,,Q86SJ6,Q86SJ6,HGNC:21307 +GARD:0000094,Orphanet,578,ORPHA:578,1,MCOLN1,"[ML4, MLIV, MST080, MSTP080, TRPM-L1, TRPML1, mucolipidosis type IV, transient receptor potential cation channel mucolipin subfamily member 1, transient receptor potential mucolipin 1]",mucolipin TRP cation channel 1,gene with protein product,19p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21224396, PMID:21763169]",605248,ENSG00000090674,501,Q9GZU1,Q9GZU1,HGNC:13356 +GARD:0000095,Orphanet,2576,ORPHA:2576,1,TRIM37,"[KIAA0898, POB1, RING-B-box-coiled-coil protein, TEF3]",tripartite motif containing 37,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,[PMID:19347900],605073,ENSG00000108395,,O94972,O94972,HGNC:7523 +GARD:0000104,Orphanet,2704,ORPHA:2704,2,HPSE2,"[HPA2, HPR2]",heparanase 2 (inactive),gene with protein product,10q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23967498],613469,ENSG00000172987,,Q8WWQ2,Q8WWQ2,HGNC:18374 +GARD:0000104,Orphanet,2704,ORPHA:2704,2,LRIG2,[KIAA0806],leucine rich repeats and immunoglobulin like domains 2,gene with protein product,1p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:23313374, PMID:23967498]",608869,ENSG00000198799,,O94898,,HGNC:20889 +GARD:0000108,Orphanet,206583,ORPHA:206583,1,GBE1,"[Andersen disease, glycogen branching enzyme, glycogen storage disease type IV]","1,4-alpha-glucan branching enzyme 1",gene with protein product,3p12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:10762170],607839,ENSG00000114480,,Q04446,Q04446,HGNC:4180 +GARD:0000109,Orphanet,2762,ORPHA:2762,1,GNAS,"[G protein subunit alpha S, GNASXL, GPSA, NESP, NESP55, SCG6, SgVI, secretogranin VI]",GNAS complex locus,gene with protein product,20q13.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:14723729, PMID:17321228, PMID:20427508]",139320,ENSG00000087460,,O95467; P63092; P84996; Q5JWF2,P63092,HGNC:4392 +GARD:0000112,Orphanet,70587,ORPHA:70587,3,SFTPB,[SP-B],surfactant protein B,gene with protein product,2p11.2,Major susceptibility factor in,Assessed,[PMID:11063734],178640,ENSG00000168878,,P07988,P07988,HGNC:10801 +GARD:0000112,Orphanet,70587,ORPHA:70587,3,SFTPC,"[BRICD6, BRICHOS domain containing 6, PSP-C, SMDP2, SP-C]",surfactant protein C,gene with protein product,8p21.3,Major susceptibility factor in,Not yet assessed,,178620,ENSG00000168484,,P11686,P11686,HGNC:10802 +GARD:0000112,Orphanet,70587,ORPHA:70587,3,ABCA3,"[ABC-C, EST111653, LBM180]",ATP binding cassette subfamily A member 3,gene with protein product,16p13.3,Candidate gene tested in,Not yet assessed,[PMID:27516224],601615,ENSG00000167972,758,Q99758,Q99758,HGNC:33 +GARD:0000114,Orphanet,99014,ORPHA:99014,1,PRPS1,"[CMTX5, DFNX1, PRS I, ribose-phosphate diphosphokinase 1]",phosphoribosyl pyrophosphate synthetase 1,gene with protein product,Xq22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301731],311850,ENSG00000147224,,P60891,P60891,HGNC:9462 +GARD:0000116,Orphanet,79279,ORPHA:79279,1,NAGA,"[D22S674, alpha-galactosidase B]",alpha-N-acetylgalactosaminidase,gene with protein product,22q13.2,Disease-causing germline mutation(s) in,Assessed,,104170,ENSG00000198951,,P17050,,HGNC:7631 +GARD:0000117,Orphanet,798,ORPHA:798,1,SETBP1,"[KIAA0437, SEB]",SET binding protein 1,gene with protein product,18q12.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:20436468, PMID:21371013]",611060,ENSG00000152217,,Q9Y6X0,,HGNC:15573 +GARD:0000118,Orphanet,3138,ORPHA:3138,1,TBX3,"[TBX3-ISO, XHL]",T-box transcription factor 3,gene with protein product,12q24.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10330342, PMID:12668170, PMID:19938096]",601621,ENSG00000135111,,O15119,O15119,HGNC:11602 +GARD:0000121,Orphanet,1807,ORPHA:1807,1,TWIST2,"[DERMO1, Dermo-1, bHLHa39]",twist family bHLH transcription factor 2,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,,607556,ENSG00000233608,,Q8WVJ9,Q8WVJ9,HGNC:20670 +GARD:0000122,Orphanet,85191,ORPHA:85191,2,DDX58,"[DKFZp434J1111, FLJ13599, RIG-1, RIG-I, RIG1, RNA helicase RIG-I, retinoic acid inducible gene I]",DExD/H-box helicase 58,gene with protein product,9p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25620203],609631,ENSG00000107201,2920,O95786,O95786,HGNC:19102 +GARD:0000122,Orphanet,85191,ORPHA:85191,2,IFIH1,"[Hlcd, IDDM19, MDA-5, MDA5, helicard, melanoma differentiation-associated gene 5]",interferon induced with helicase C domain 1,gene with protein product,2q24.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25620204],606951,ENSG00000115267,2921,Q9BYX4,Q9BYX4,HGNC:18873 +GARD:0000134,Orphanet,93346,ORPHA:93346,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:7550321],120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0000139,Orphanet,615,ORPHA:615,1,PRKAR1A,"[CNC1, Carney complex type 1]",protein kinase cAMP-dependent type I regulatory subunit alpha,gene with protein product,17q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:10973256],188830,ENSG00000108946,1472,P10644,P10644,HGNC:9388 +GARD:0000155,Orphanet,2378,ORPHA:2378,1,LMBR1,"[ACHP, FLJ11665, ZRS]",limb development membrane protein 1,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24456159],605522,ENSG00000105983,,Q8WVP7,,HGNC:13243 +GARD:0000156,Orphanet,588,ORPHA:588,8,FKRP,"[FKTR, LGMD2I, MDC1C]",fukutin related protein,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:15121789, PMID:19299310]",606596,ENSG00000181027,,Q9H9S5,,HGNC:17997 +GARD:0000156,Orphanet,588,ORPHA:588,8,B3GALNT2,[MGC39558],"beta-1,3-N-acetylgalactosaminyltransferase 2",gene with protein product,1q42.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23453667],610194,ENSG00000162885,,Q8NCR0,Q8NCR0,HGNC:28596 +GARD:0000156,Orphanet,588,ORPHA:588,8,POMGNT1,"[FLJ20277, LGMD2O, MGAT1.2, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase]","protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",gene with protein product,1p34.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:12788071],606822,ENSG00000085998,,Q8WZA1,Q8WZA1,HGNC:19139 +GARD:0000156,Orphanet,588,ORPHA:588,8,GMPPB,"[KIAA1851, mannose-1-phosphate guanyltransferase beta]",GDP-mannose pyrophosphorylase B,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:23768512],615320,ENSG00000173540,,Q9Y5P6,Q9Y5P6,HGNC:22932 +GARD:0000156,Orphanet,588,ORPHA:588,8,POMT2,"[Dolichyl-phosphate-mannose--protein mannosyltransferase, LGMD2N]",protein O-mannosyltransferase 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:17878207, PMID:19299310]",607439,ENSG00000009830,,Q9UKY4,Q9UKY4,HGNC:19743 +GARD:0000156,Orphanet,588,ORPHA:588,8,FKTN,[LGMD2M],fukutin,gene with protein product,9q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17878207],607440,ENSG00000106692,,O75072,,HGNC:3622 +GARD:0000156,Orphanet,588,ORPHA:588,8,POMT1,"[LGMD2K, dolichyl-phosphate-mannose-protein mannosyltransferase]",protein O-mannosyltransferase 1,gene with protein product,9q34.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:17878207, PMID:19299310]",607423,ENSG00000130714,,Q9Y6A1,Q9Y6A1,HGNC:9202 +GARD:0000156,Orphanet,588,ORPHA:588,8,LARGE1,"[KIAA0609, like-acetylglucosaminyltransferase]",LARGE xylosyl- and glucuronyltransferase 1,gene with protein product,22q12.3,Candidate gene tested in,Not yet assessed,[PMID:19067344],603590,ENSG00000133424,,O95461,O95461,HGNC:6511 +GARD:0000158,Orphanet,3129,ORPHA:3129,1,SARDH,[SDH],sarcosine dehydrogenase,gene with protein product,9q34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22825317],604455,ENSG00000123453,,Q9UL12,Q9UL12,HGNC:10536 +GARD:0000159,Orphanet,2036,ORPHA:2036,1,KCTD1,,potassium channel tetramerization domain containing 1,gene with protein product,18q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23541344],613420,ENSG00000134504,,Q719H9,Q719H9,HGNC:18249 +GARD:0000169,Orphanet,3144,ORPHA:3144,2,SLC35D1,"[KIAA0260, UGTREL7]",solute carrier family 35 member D1,gene with protein product,1p31.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19508970],610804,ENSG00000116704,1149,Q9NTN3,Q9NTN3,HGNC:20800 +GARD:0000169,Orphanet,3144,ORPHA:3144,2,INPPL1,"[51C protein, SH2 domain-containing inositol 5'-phosphatase 2, SHIP2, phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2]",inositol polyphosphate phosphatase like 1,gene with protein product,11q13.4,Disease-causing germline mutation(s) in,Assessed,[PMID:25997753],600829,ENSG00000165458,1459,O15357,O15357,HGNC:6080 +GARD:0000175,Orphanet,309324,ORPHA:309324,1,SLC17A5,"[AST, ISSD, NSD, SD, SIALIN, SLD]",solute carrier family 17 member 5,gene with protein product,6q13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301643],604322,ENSG00000119899,1006,Q9NRA2,Q9NRA2,HGNC:10933 +GARD:0000180,Orphanet,182050,ORPHA:182050,1,MYH9,"[EPSTS, FTNS, MHA, NMHC-II-A, NMMHCA, nonmuscle myosin heavy chain II-A]",myosin heavy chain 9,gene with protein product,22q12.3,Disease-causing germline mutation(s) in,Assessed,,160775,ENSG00000100345,,P35579,P35579,HGNC:7579 +GARD:0000181,Orphanet,827,ORPHA:827,5,PRPH2,"[CACD2, TSPAN22, rd2, retinal peripherin]",peripherin 2,gene with protein product,6p21.1,Candidate gene tested in,Not yet assessed,,179605,ENSG00000112619,,P23942,,HGNC:9942 +GARD:0000181,Orphanet,827,ORPHA:827,5,ABCA4,"[ARMD2, CORD3, FFM, Stargardt disease]",ATP binding cassette subfamily A member 4,gene with protein product,1p22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20633576],601691,ENSG00000198691,759,P78363,P78363,HGNC:34 +GARD:0000181,Orphanet,827,ORPHA:827,5,PROM1,"[AC133, CD133, CORD12, RP41]",prominin 1,gene with protein product,4p15.32,Disease-causing germline mutation(s) in,Assessed,[PMID:18654668],604365,ENSG00000007062,,O43490,,HGNC:9454 +GARD:0000181,Orphanet,827,ORPHA:827,5,CNGB3,,cyclic nucleotide gated channel subunit beta 3,gene with protein product,8q21.3,Candidate gene tested in,Not yet assessed,[PMID:15712225],605080,ENSG00000170289,399,Q9NQW8,,HGNC:2153 +GARD:0000181,Orphanet,827,ORPHA:827,5,ELOVL4,"[CT118, cancer/testis antigen 118]",ELOVL fatty acid elongase 4,gene with protein product,6q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20633576],605512,ENSG00000118402,,Q9GZR5,Q9GZR5,HGNC:14415 +GARD:0000182,Orphanet,1243,ORPHA:1243,1,BEST1,"[BEST, BMD, Best disease, RP50]",bestrophin 1,gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:16754206, PMID:20301346]",607854,ENSG00000167995,,O76090,O76090,HGNC:12703 +GARD:0000193,Orphanet,2745,ORPHA:2745,1,MID1,"[FXY, OS, Opitz/BBB syndrome, RNF59, TRIM18]",midline 1,gene with protein product,Xp22,Disease-causing germline mutation(s) in,Assessed,[PMID:15558842],300552,ENSG00000101871,,O15344,O15344,HGNC:7095 +GARD:0000194,Orphanet,2066,ORPHA:2066,1,ABAT,"[4-aminobutyrate transaminase, GABA transaminase, GABA-T, GABAT, gamma-aminobutyrate aminotransferase]",4-aminobutyrate aminotransferase,gene with protein product,16p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:10407778, PMID:9746906]",137150,ENSG00000183044,2464,P80404,P80404,HGNC:23 +GARD:0000195,Orphanet,682,ORPHA:682,1,SCN4A,"[HYPP, Nav1.4, SkM1]",sodium voltage-gated channel alpha subunit 4,gene with protein product,17q23.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:17395131, PMID:20301669]",603967,ENSG00000007314,581,P35499,P35499,HGNC:10591 +GARD:0000198,Orphanet,83419,ORPHA:83419,3,SMN2,"[BCD541, GEMIN1, SMNC, TDRD16B, tudor domain containing 16B]","survival of motor neuron 2, centromeric",gene with protein product,5q13.2,Modifying germline mutation in,Assessed,[PMID:20301526],601627,ENSG00000205571,,Q16637,Q16637,HGNC:11118 +GARD:0000198,Orphanet,83419,ORPHA:83419,3,NAIP,"[NLR family, BIR domain containing 1, NLRB1, nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1]",NLR family apoptosis inhibitory protein,gene with protein product,5q13.2,Modifying germline mutation in,Assessed,[PMID:11912351],600355,ENSG00000249437,2793,Q13075,,HGNC:7634 +GARD:0000198,Orphanet,83419,ORPHA:83419,3,SMN1,"[BCD541, GEMIN1, SMA1, SMA2, SMA3, SMNT, TDRD16A, gemin-1, tudor domain containing 16A]","survival of motor neuron 1, telomeric",gene with protein product,5q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301526],600354,ENSG00000172062,,Q16637,Q16637,HGNC:11117 +GARD:0000218,Orphanet,3111,ORPHA:3111,2,SLCO1B3,"[OATP1B3, OATP8]",solute carrier organic anion transporter family member 1B3,gene with protein product,12p12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22232210, PMID:23236639]",605495,ENSG00000111700,1221,Q9NPD5,Q9NPD5,HGNC:10961 +GARD:0000218,Orphanet,3111,ORPHA:3111,2,SLCO1B1,"[LST-1, OATP-C, OATP1B1]",solute carrier organic anion transporter family member 1B1,gene with protein product,12p12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:22232210, PMID:23236639]",604843,ENSG00000134538,1220,Q9Y6L6,Q9Y6L6,HGNC:10959 +GARD:0000225,Orphanet,93321,ORPHA:93321,2,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26394607],600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0000225,Orphanet,93321,ORPHA:93321,2,LMBR1,"[ACHP, FLJ11665, ZRS]",limb development membrane protein 1,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26394607],605522,ENSG00000105983,,Q8WVP7,,HGNC:13243 +GARD:0000226,Orphanet,769,ORPHA:769,1,INSR,[CD220],insulin receptor,gene with protein product,19p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:17201797, PMID:21869538]",147670,ENSG00000171105,1800,P06213,P06213,HGNC:6091 +GARD:0000232,Orphanet,1309,ORPHA:1309,1,HNF1B,"[HNF1beta, HNF1ß, LFB3, MODY5, VHNF1, hepatocyte nuclear factor 1 beta]",HNF1 homeobox B,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:33305128],189907,ENSG00000275410,,P35680,P35680,HGNC:11630 +GARD:0000234,Orphanet,941,ORPHA:941,1,GLYCTK,"[HBEBP2, HBEBP4]",glycerate kinase,gene with protein product,3p21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20949620],610516,ENSG00000168237,,Q8IVS8,Q8IVS8,HGNC:24247 +GARD:0000249,Orphanet+OMIM,122860,OMIM:122860,1,SOST,"[DAND6, VBCH]",sclerostin,gene with protein product,17q21.31,The molecular basis of the disorder is known,Unknown,,605740,ENSG00000167941,ligandId:3704,Q9BQB4,Q9BQB4,HGNC:13771 +GARD:0000250,Orphanet,800,ORPHA:800,1,HSPG2,"[PRCAN, endorepellin, perlecan, perlecan proteoglycan]",heparan sulfate proteoglycan 2,gene with protein product,1p36.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19367640],142461,ENSG00000142798,,P98160,P98160,HGNC:5273 +GARD:0000262,Orphanet,644,ORPHA:644,1,MT-ATP6,"[ATP6, ATPase-6, Su6m, mitochondrially encoded ATP synthase membrane subunit a]",mitochondrially encoded ATP synthase membrane subunit 6,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:20301352],516060,ENSG00000198899,801,P00846,P00846,HGNC:7414 +GARD:0000264,Orphanet,1824,ORPHA:1824,1,RNU4ATAC,"[RNU4ATAC1, U4atac]","RNA, U4atac small nuclear (U12-dependent splicing)",Non-coding RNA,2q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:29265708],601428,ENSG00000264229,,,,HGNC:34016 +GARD:0000267,Orphanet,2662,ORPHA:2662,1,GPC4,"[K-glypican, glypican proteoglycan 4]",glypican 4,gene with protein product,Xq26.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30982611],300168,ENSG00000076716,,O75487,O75487,HGNC:4452 +GARD:0000269,Orphanet,2307,ORPHA:2307,1,SALL4,"[ZNF797, dJ1112F19.1]",spalt like transcription factor 4,gene with protein product,20q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17256792],607343,ENSG00000101115,,Q9UJQ4,Q9UJQ4,HGNC:15924 +GARD:0000270,Orphanet,3051,ORPHA:3051,1,SMARCA2,"[BAF190, BRM, SNF2, SNF2LA, SWI2, Sth1p, brahma homolog, hBRM, hSNF2a]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2",gene with protein product,9p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22366787],600014,ENSG00000080503,2739,P51531,P51531,HGNC:11098 +GARD:0000272,Orphanet,3412,ORPHA:3412,1,FANCB,"[FAAP95, FAB, FLJ34064]",FA complementation group B,gene with protein product,Xp22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21910217],300515,ENSG00000181544,,Q8NB91,Q8NB91,HGNC:3583 +GARD:0000273,Orphanet,2834,ORPHA:2834,1,ATP6V0A2,"[ATP6N1D, ATP6a2, J6B7, RTF, Stv1, TJ6, TJ6M, TJ6s, V-ATPase subunit a2, V-type proton ATPase 116 kDa subunit a2, Vph1, a2, a2V, regeneration and tolerance factor]",ATPase H+ transporting V0 subunit a2,gene with protein product,12q24.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18157129],611716,ENSG00000185344,824,Q9Y487,Q9Y487,HGNC:18481 +GARD:0000276,Orphanet+OMIM,614841,OMIM:614841,1,GNRH1,[progonadoliberin-1],gonadotropin releasing hormone 1,gene with protein product,8p21.2,The molecular basis of the disorder is known,Unknown,,152760,ENSG00000147437,ligandId:1162,P01148,P01148,HGNC:4419 +GARD:0000282,Orphanet,1832,ORPHA:1832,1,FAM20C,"[DKFZp547D065, DMP4, G-CK, IMAGE:4942737, dentin matrix protein 4, golgi casein kinase]",FAM20C golgi associated secretory pathway kinase,gene with protein product,7p22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25019372],611061,ENSG00000177706,,Q8IXL6,Q8IXL6,HGNC:22140 +GARD:0000302,Orphanet,99749,ORPHA:99749,1,HAX1,"[HAX-1, HCLS1 (and PKD2) associated protein, HCLSBP1, HS1BP1]",HCLS1 associated protein X-1,gene with protein product,1q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17187068],605998,ENSG00000143575,,O00165,O00165,HGNC:16915 +GARD:0000304,Orphanet,90340,ORPHA:90340,1,NOD2,"[BLAU, CD, CLR16.3, NLR family, CARD domain containing 2, NLRC2, NOD-like receptor C2, PSORAS1, nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2]",nucleotide binding oligomerization domain containing 2,gene with protein product,16q12.1,Disease-causing germline mutation(s) in,Assessed,,605956,ENSG00000167207,1763,Q9HC29,Q9HC29,HGNC:5331 +GARD:0000306,Orphanet,2848,ORPHA:2848,1,PRG4,"[FLJ32635, HAPO, JCAP, Jacobs camptodactyly-arthropathy-pericarditis syndrome, MSF, SZP, articular superficial zone protein, bG174L6.2, bG174L6.2 (MSF: megakaryocyte stimulating factor ), camptodactyly, arthropathy, coxa vara, pericarditis syndrome, lubricin, megakaryocyte stimulating factor]",proteoglycan 4,gene with protein product,1q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:10545950],604283,ENSG00000116690,,Q92954,,HGNC:9364 +GARD:0000307,Orphanet,2308,ORPHA:2308,1,FLI1,"[EWSR2, SIC-1]","Fli-1 proto-oncogene, ETS transcription factor",gene with protein product,11q24.3,Role in the phenotype of,Assessed,[PMID:26285164],193067,ENSG00000151702,,Q01543,Q01543,HGNC:3749 +GARD:0000310,Orphanet,3474,ORPHA:3474,1,PIGL,[N-acetylglucosaminylphosphatidylinositol deacetylase],phosphatidylinositol glycan anchor biosynthesis class L,gene with protein product,17p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22444671],605947,ENSG00000108474,,Q9Y2B2,Q9Y2B2,HGNC:8966 +GARD:0000314,Orphanet,3124,ORPHA:3124,1,AASS,"[LKRSDH, LORSDH, alpha-aminoadipic semialdehyde synthase, lysine ketoglutarate reductase/saccharopine dehydrogenase]",aminoadipate-semialdehyde synthase,gene with protein product,7q31.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:10775527, PMID:23570448]",605113,ENSG00000008311,,Q9UDR5,Q9UDR5,HGNC:17366 +GARD:0000321,Orphanet,2613,ORPHA:2613,1,LMX1B,,LIM homeobox transcription factor 1 beta,gene with protein product,9q33.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:24042019, PMID:25713721]",602575,ENSG00000136944,,O60663,,HGNC:6654 +GARD:0000322,Orphanet,3156,ORPHA:3156,10,CEP290,"[3H11Ag, BBS14, Bardet-Biedl syndrome 14, CT87, FLJ13615, JBTS5, Joubert syndrome 5, KIAA0373, LCA10, MKS4, Meckel syndrome, type 4, NPHP6, POC3, POC3 centriolar protein homolog (Chlamydomonas), SLSN6, cancer/testis antigen 87, nephrocystin-6, rd16]",centrosomal protein 290,gene with protein product,12q21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:22819833],610142,ENSG00000198707,,O15078,O15078,HGNC:29021 +GARD:0000322,Orphanet,3156,ORPHA:3156,10,TRAF3IP1,"[DKFZP434F124, FAP116, IFT54, MIP-T3, MIPT3, microtubule interacting protein that associates with TRAF3]",TRAF3 interacting protein 1,gene with protein product,2q37.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26487268],607380,ENSG00000204104,,Q8TDR0,Q8TDR0,HGNC:17861 +GARD:0000322,Orphanet,3156,ORPHA:3156,10,SDCCAG8,"[BBS16, Bardet-Biedl syndrome 16, CCCAP, NPHP10, NY-CO-8, SLSN7, Senior-Loken syndrome 7, centrosomal colon cancer autoantigen protein, nephrocystin 10]",SHH signaling and ciliogenesis regulator SDCCAG8,gene with protein product,1q43-q44,Disease-causing germline mutation(s) in,Assessed,[PMID:22819833],613524,ENSG00000054282,,Q86SQ7,Q86SQ7,HGNC:10671 +GARD:0000322,Orphanet,3156,ORPHA:3156,10,INVS,[nephrocystin 2],inversin,gene with protein product,9q31.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:16522655, PMID:22819833]",243305,ENSG00000119509,,Q9Y283,,HGNC:17870 +GARD:0000322,Orphanet,3156,ORPHA:3156,10,NPHP3,"[CFAP31, FLJ30691, FLJ36696, KIAA2000, MKS7, Meckel syndrome, type 7, NPH3, SLSN3, cilia and flagella associated protein 31]",nephrocystin 3,gene with protein product,3q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22819833],608002,ENSG00000113971,,Q7Z494,Q7Z494,HGNC:7907 +GARD:0000322,Orphanet,3156,ORPHA:3156,10,NPHP1,"[JBTS4, SLSN1]",nephrocystin 1,gene with protein product,2q13,Disease-causing germline mutation(s) in,Assessed,[PMID:22819833],607100,ENSG00000144061,,O15259,O15259,HGNC:7905 +GARD:0000322,Orphanet,3156,ORPHA:3156,10,WDR19,"[DYF-2, FAP66, FLJ23127, IFT144, KIAA1638, NPHP13, ORF26, Oseg6, Pwdmp, intraflagellar transport 144 homolog (Chlamydomonas)]",WD repeat domain 19,gene with protein product,4p14,Disease-causing germline mutation(s) in,Assessed,[PMID:23683095],608151,ENSG00000157796,,Q8NEZ3,Q8NEZ3,HGNC:18340 +GARD:0000322,Orphanet,3156,ORPHA:3156,10,NPHP4,"[KIAA0673, POC10, POC10 centriolar protein homolog (Chlamydomonas), SLSN4, nephroretinin]",nephrocystin 4,gene with protein product,1p36.31,Disease-causing germline mutation(s) in,Assessed,[PMID:22819833],607215,ENSG00000131697,,O75161,O75161,HGNC:19104 +GARD:0000322,Orphanet,3156,ORPHA:3156,10,IQCB1,"[KIAA0036, NPHP5, SLSN5, nephrocystin-5]",IQ motif containing B1,gene with protein product,3q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:22819833],609237,ENSG00000173226,,Q15051,Q15051,HGNC:28949 +GARD:0000322,Orphanet,3156,ORPHA:3156,10,CEP164,"[KIAA1052, NPHP15]",centrosomal protein 164,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22863007],614848,ENSG00000110274,,Q9UPV0,Q9UPV0,HGNC:29182 +GARD:0000330,Orphanet,3455,ORPHA:3455,1,POLR3A,"[C160, RPC1, RPC155, hRPC155]",RNA polymerase III subunit A,gene with protein product,10q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30323018],614258,ENSG00000148606,,O14802,O14802,HGNC:30074 +GARD:0000331,Orphanet,3472,ORPHA:3472,2,FIG4,"[ALS11, CMT4J, SAC3, dJ249I4.1, hSac3]",FIG4 phosphoinositide 5-phosphatase,gene with protein product,6q21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23623387],609390,ENSG00000112367,,Q92562,Q92562,HGNC:16873 +GARD:0000331,Orphanet,3472,ORPHA:3472,2,VAC14,"[ArPIKfyve, FLJ10305]",VAC14 component of PIKFYVE complex,gene with protein product,16q22.1-q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28635952],604632,ENSG00000103043,,Q08AM6,Q08AM6,HGNC:25507 +GARD:0000332,Orphanet,1555,ORPHA:1555,1,FGFR2,"[CD332, CEK3, Crouzon syndrome, ECT1, K-SAM, Pfeiffer syndrome, TK14, TK25]",fibroblast growth factor receptor 2,gene with protein product,10q26.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301628, PMID:21438135]",176943,ENSG00000066468,1809,P21802,P21802,HGNC:3689 +GARD:0000333,Orphanet,33001,ORPHA:33001,1,FOXC2,"[MFH-1, mesenchyme forkhead 1]",forkhead box C2,gene with protein product,16q24.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:12383817, PMID:20301630]",602402,ENSG00000176692,,Q99958,Q99958,HGNC:3801 +GARD:0000334,Orphanet,41,ORPHA:41,1,ADAR,[ADAR1],adenosine deaminase RNA specific,gene with protein product,1q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12916015],146920,ENSG00000160710,,P55265,P55265,HGNC:225 +GARD:0000336,Orphanet,101003,ORPHA:101003,2,DSTYK,"[DustyPK, KIAA0472, RIP5]",dual serine/threonine and tyrosine protein kinase,gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28157540],612666,ENSG00000133059,2008,Q6XUX3,,HGNC:29043 +GARD:0000336,Orphanet,101003,ORPHA:101003,2,SPG23,,spastic paraplegia 23 (autosomal recessive),Disorder-associated locus,1q24-q32,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:21340 +GARD:0000343,Orphanet,166063,ORPHA:166063,1,TSEN54,"[SEN54, SEN54L]",tRNA splicing endonuclease subunit 54,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,,608755,ENSG00000182173,,Q7Z6J9,Q7Z6J9,HGNC:27561 +GARD:0000346,Orphanet,3322,ORPHA:3322,6,TERT,"[EST2, TCS1, TP2, TRT, hEST2]",telomerase reverse transcriptase,gene with protein product,5p15.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:17785587, PMID:23335200]",187270,ENSG00000164362,,O14746,O14746,HGNC:11730 +GARD:0000346,Orphanet,3322,ORPHA:3322,6,TINF2,[TIN2],TERF1 interacting nuclear factor 2,gene with protein product,14q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:18669893, PMID:20301779, PMID:21199492, PMID:22078571]",604319,ENSG00000092330,,Q9BSI4,Q9BSI4,HGNC:11824 +GARD:0000346,Orphanet,3322,ORPHA:3322,6,ACD,"[POT1 and TIN2 organizing protein, Pip1, Ptop, TIN2 interacting protein 1, Tint1, Tpp1]",ACD shelterin complex subunit and telomerase recruitment factor,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25233904],609377,ENSG00000102977,,Q96AP0,Q96AP0,HGNC:25070 +GARD:0000346,Orphanet,3322,ORPHA:3322,6,DKC1,"[Cbf5, H/ACA ribonucleoprotein complex subunit 4, NAP57, NOLA4, XAP101, dyskerin]",dyskerin pseudouridine synthase 1,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,,300126,ENSG00000130826,,O60832,O60832,HGNC:2890 +GARD:0000346,Orphanet,3322,ORPHA:3322,6,PARN,"[DAN, deadenylation nuclease]",poly(A)-specific ribonuclease,gene with protein product,16p13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:25893599],604212,ENSG00000140694,,O95453,O95453,HGNC:8609 +GARD:0000346,Orphanet,3322,ORPHA:3322,6,RTEL1,"[DKFZP434C013, KIAA1088, NHL, RTEL, bK3184A7.3]",regulator of telomere elongation helicase 1,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:23329068, PMID:23453664]",608833,ENSG00000258366,,Q9NZ71,Q9NZ71,HGNC:15888 +GARD:0000347,Orphanet,2255,ORPHA:2255,1,GATA6,,GATA binding protein 6,gene with protein product,18q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22158542, PMID:22962692]",601656,ENSG00000141448,,Q92908,Q92908,HGNC:4174 +GARD:0000359,Orphanet,1515,ORPHA:1515,5,IFT43,"[FLJ32173, MGC16028]",intraflagellar transport 43,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:22791528, PMID:24027799]",614068,ENSG00000119650,,Q96FT9,Q96FT9,HGNC:29669 +GARD:0000359,Orphanet,1515,ORPHA:1515,5,IFT122,"[FAP80, SPG, WDR10p, WDR140]",intraflagellar transport 122,gene with protein product,3q21.3-q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:21438135, PMID:22791528, PMID:24027799]",606045,ENSG00000163913,,Q9HBG6,Q9HBG6,HGNC:13556 +GARD:0000359,Orphanet,1515,ORPHA:1515,5,WDR19,"[DYF-2, FAP66, FLJ23127, IFT144, KIAA1638, NPHP13, ORF26, Oseg6, Pwdmp, intraflagellar transport 144 homolog (Chlamydomonas)]",WD repeat domain 19,gene with protein product,4p14,Disease-causing germline mutation(s) in,Assessed,"[PMID:22791528, PMID:24027799]",608151,ENSG00000157796,,Q8NEZ3,Q8NEZ3,HGNC:18340 +GARD:0000359,Orphanet,1515,ORPHA:1515,5,IFT52,"[CGI-53, NGD2, NGD5, dJ1028D15.1]",intraflagellar transport 52,gene with protein product,20q13.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:26880018, PMID:27466190]",617094,ENSG00000101052,,Q9Y366,Q9Y366,HGNC:15901 +GARD:0000359,Orphanet,1515,ORPHA:1515,5,WDR35,"[FAP118, IFT121, IFTA1, KIAA1336, MGC33196]",WD repeat domain 35,gene with protein product,2p24.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:21438135, PMID:22791528, PMID:24027799]",613602,ENSG00000118965,,Q9P2L0,Q9P2L0,HGNC:29250 +GARD:0000360,Orphanet,921,ORPHA:921,1,TBX22,,T-box transcription factor 22,gene with protein product,Xq21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22784330],300307,ENSG00000122145,,Q9Y458,,HGNC:11600 +GARD:0000363,Orphanet,926,ORPHA:926,1,CAT,,catalase,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,[PMID:11001624],115500,ENSG00000121691,2979,P04040,P04040,HGNC:1516 +GARD:0000365,Orphanet,91,ORPHA:91,1,CYP19A1,"[ARO, ARO1, CPV1, CYAR, P-450AROM, aromatase]",cytochrome P450 family 19 subfamily A member 1,gene with protein product,15q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21521281],107910,ENSG00000137869,1362,P11511,P11511,HGNC:2594 +GARD:0000368,Orphanet,2407,ORPHA:2407,1,LAMA3,"[BM600-150kDa, epiligrin, kalinin-165kDa, nicein-150kDa]",laminin subunit alpha 3,gene with protein product,18q11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:12915477, PMID:23869449]",600805,ENSG00000053747,,Q16787,Q16787,HGNC:6483 +GARD:0000369,Orphanet,1435,ORPHA:1435,1,POU3F4,"[BRN4, DFNX2, OTF9, Octamer-binding transcription factor 9, brain-4]",POU class 3 homeobox 4,gene with protein product,Xq21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17935254],300039,ENSG00000196767,,P49335,,HGNC:9217 +GARD:0000372,Orphanet,638,ORPHA:638,2,NF1,"[Watson disease, neurofibromatosis, von Recklinghausen disease]",neurofibromin 1,gene with protein product,17q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22847776],613113,ENSG00000196712,,P21359,P21359,HGNC:7765 +GARD:0000372,Orphanet,638,ORPHA:638,2,MAP2K2,[MEK2],mitogen-activated protein kinase kinase 2,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24311457],601263,ENSG00000126934,2063,P36507,P36507,HGNC:6842 +GARD:0000375,Orphanet,3253,ORPHA:3253,1,NECTIN1,"[CD111, CLPED1, HIgR, OFC7, PRR, PRR1, PVRR1, SK-12, nectin]",nectin cell adhesion molecule 1,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:10932188],600644,ENSG00000110400,,Q15223,Q15223,HGNC:9706 +GARD:0000376,Orphanet,931,ORPHA:931,1,LMBR1,"[ACHP, FLJ11665, ZRS]",limb development membrane protein 1,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11090342],605522,ENSG00000105983,,Q8WVP7,,HGNC:13243 +GARD:0000380,Orphanet,1571,ORPHA:1571,1,COL18A1,"[KNO1, KS, endostatin]",collagen type XVIII alpha 1 chain,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15714516, PMID:21862674]",120328,ENSG00000182871,,P39060,P39060,HGNC:2195 +GARD:0000383,Orphanet,53,ORPHA:53,1,CLCN7,"[CLC-7, CLC7, ClC-7, OPTA2, PPP1R63, protein phosphatase 1, regulatory subunit 63]",chloride voltage-gated channel 7,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:11741829, PMID:20301306]",602727,ENSG00000103249,706,P51798,P51798,HGNC:2025 +GARD:0000384,Orphanet,978,ORPHA:978,1,TP63,"[EEC3, KET, NBP, OFC8, SHFM4, p51, p53CP, p63, p73H, p73L]",tumor protein p63,gene with protein product,3q28,Disease-causing germline mutation(s) in,Assessed,[PMID:17041931],603273,ENSG00000073282,,Q9H3D4,Q9H3D4,HGNC:15979 +GARD:0000385,Orphanet,3473,ORPHA:3473,3,KCNN3,"[KCa2.3, SKCA3, hSK3, small conductance calcium-activated potassium channel 3]",potassium calcium-activated channel subfamily N member 3,gene with protein product,1q21.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:31155282],602983,ENSG00000143603,383,Q9UGI6,Q9UGI6,HGNC:6292 +GARD:0000385,Orphanet,3473,ORPHA:3473,3,KCNH1,"[Kv10.1, eag, eag1, ether-a-go-go 1, h-eag, hEAG]",potassium voltage-gated channel subfamily H member 1,gene with protein product,1q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25915598],603305,ENSG00000143473,570,O95259,O95259,HGNC:6250 +GARD:0000385,Orphanet,3473,ORPHA:3473,3,ATP6V1B2,"[HO57, V-ATPase subunit B2, VATB, Vma2]",ATPase H+ transporting V1 subunit B2,gene with protein product,8p21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25915598],606939,ENSG00000147416,812,P21281,P21281,HGNC:854 +GARD:0000386,Orphanet,3301,ORPHA:3301,2,WNT3,"[MGC131950, MGC138321, MGC138323, WNT-3 proto-oncogene protein]",Wnt family member 3,gene with protein product,17q21.31-q21.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:14872406, PMID:20301453]",165330,ENSG00000108379,,P56703,P56703,HGNC:12782 +GARD:0000386,Orphanet,3301,ORPHA:3301,2,RSPO2,[MGC35555],R-spondin 2,gene with protein product,8q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29769720],610575,ENSG00000147655,,Q6UXX9,Q6UXX9,HGNC:28583 +GARD:0000387,Orphanet,911,ORPHA:911,1,ZAP70,"[STD, ZAP-70, tyrosine-protein kinase ZAP-70]",zeta chain of T-cell receptor associated protein kinase 70,gene with protein product,2q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301777],176947,ENSG00000115085,2285,P43403,P43403,HGNC:12858 +GARD:0000390,Orphanet,2790,ORPHA:2790,1,LRP5,"[BMND1, EVR4, HBM, LR3, OPS, OPTA1, VBCH2]",LDL receptor related protein 5,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:12579474],603506,ENSG00000162337,,O75197,O75197,HGNC:6697 +GARD:0000399,Orphanet,393,ORPHA:393,5,NR5A1,"[AD4BP, ELP, FTZ1, SF-1, SF1, hSF-1, steroidogenic factor 1]",nuclear receptor subfamily 5 group A member 1,gene with protein product,9q33.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27490115],184757,ENSG00000136931,632,Q13285,Q13285,HGNC:7983 +GARD:0000399,Orphanet,393,ORPHA:393,5,SOX3,,SRY-box transcription factor 3,gene with protein product,Xq27.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:21183788, PMID:22678921]",313430,ENSG00000134595,,P41225,P41225,HGNC:11199 +GARD:0000399,Orphanet,393,ORPHA:393,5,SOX9,[SRA1],SRY-box transcription factor 9,gene with protein product,17q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24140641],608160,ENSG00000125398,,P48436,P48436,HGNC:11204 +GARD:0000399,Orphanet,393,ORPHA:393,5,SRY,"[TDF, testis-determining factor]",sex determining region Y,gene with protein product,Yp11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301589],480000,ENSG00000184895,,Q05066,Q05066,HGNC:11311 +GARD:0000399,Orphanet,393,ORPHA:393,5,NR0B1,"[AHCH, DAX1]",nuclear receptor subfamily 0 group B member 1,gene with protein product,Xp21.2,Role in the phenotype of,Assessed,[PMID:28483799],300473,ENSG00000169297,635,P51843,P51843,HGNC:7960 +GARD:0000400,Orphanet,2067,ORPHA:2067,1,ANTXR1,"[ATR, Anthrax toxin receptor, FLJ10601, FLJ21776, TEM8, Tumor endothelial marker 8 precursor, anthrax toxin receptor, tumor endothelial marker 8 precursor]",ANTXR cell adhesion molecule 1,gene with protein product,2p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23602711],606410,ENSG00000169604,,Q9H6X2,Q9H6X2,HGNC:21014 +GARD:0000406,Orphanet,2253,ORPHA:2253,1,PAX6,"[AN, Aniridia 1, Aniridia 2, D11S812E, WAGR, aniridia, keratitis]",paired box 6,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,[PMID:9931324],607108,ENSG00000007372,,P26367,P26367,HGNC:8620 +GARD:0000408,Orphanet,629,ORPHA:629,1,GH1,"[GH, GH-N, GHN, hGH-N, pituitary growth hormone, somatotropin]",growth hormone 1,gene with protein product,17q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15713716, PMID:8552145, PMID:9276733]",139250,ENSG00000259384,,P01241,P01241,HGNC:4261 +GARD:0000411,Orphanet,2323,ORPHA:2323,1,TBCE,"[KCS1, pac2]",tubulin folding cofactor E,gene with protein product,1q42.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12389028],604934,ENSG00000284770,,Q15813,Q15813,HGNC:11582 +GARD:0000413,Orphanet,2078,ORPHA:2078,2,GORAB,"[FLJ11752, GO, NTKL-BP1, RAB6-interacting golgin, gerodermia osteodysplastica]","golgin, RAB6 interacting",gene with protein product,1q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18997784],607983,ENSG00000120370,,Q5T7V8,Q5T7V8,HGNC:25676 +GARD:0000413,Orphanet,2078,ORPHA:2078,2,PYCR1,[P5C],pyrroline-5-carboxylate reductase 1,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21204221, PMID:24035636]",179035,ENSG00000183010,,P32322,P32322,HGNC:9721 +GARD:0000414,Orphanet,1226,ORPHA:1226,1,FOXE1,"[HFKH4, TTF-2, thyroid transcription factor 2]",forkhead box E1,gene with protein product,9q22.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12165566, PMID:25905381, PMID:9697705]",602617,ENSG00000178919,,O00358,,HGNC:3806 +GARD:0000418,Orphanet,2843,ORPHA:2843,1,DCXR,"[DCR, HCR2, KIDCR, P34H, SDR20C1, human carbonyl reductase 2, kidney dicarbonyl reductase, short chain dehydrogenase/reductase family 20C, member 1, sperm surface protein P34H]",dicarbonyl and L-xylulose reductase,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22042873],608347,ENSG00000169738,,Q7Z4W1,Q7Z4W1,HGNC:18985 +GARD:0000420,Orphanet+OMIM,276300,OMIM:276300,1,MLH1,"[FCC2, HNPCC, HNPCC2, MLH-1]",mutL homolog 1,gene with protein product,3p22.2,The molecular basis of the disorder is known,Unknown,,120436,ENSG00000076242,,P40692,P40692,HGNC:7127 +GARD:0000425,Orphanet,1063,ORPHA:1063,1,GNA14,,G protein subunit alpha 14,gene with protein product,9q21.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:27476652],604397,ENSG00000156049,,O95837,O95837,HGNC:4382 +GARD:0000431,Orphanet,83463,ORPHA:83463,1,HOXA2,,homeobox A2,gene with protein product,7p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23775976],604685,ENSG00000105996,,O43364,O43364,HGNC:5103 +GARD:0000433,Orphanet,320,ORPHA:320,1,HSD11B2,"[SDR9C3, short chain dehydrogenase/reductase family 9C, member 3]",hydroxysteroid 11-beta dehydrogenase 2,gene with protein product,16q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:10523339],614232,ENSG00000176387,3143,P80365,P80365,HGNC:5209 +GARD:0000434,Orphanet,2182,ORPHA:2182,1,L1CAM,"[CAML1, CD171, NCAM-L1, neural cell adhesion molecule L1]",L1 cell adhesion molecule,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301657],308840,ENSG00000198910,,P32004,P32004,HGNC:6470 +GARD:0000438,Orphanet,62,ORPHA:62,1,SGCA,"[50kD DAG, A2, DMDA2, LGMD2D, SCARMD1, adhalin, limb girdle muscular dystrophy 2D]",sarcoglycan alpha,gene with protein product,17q21.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:19798725, PMID:20301582, PMID:21856579]",600119,ENSG00000108823,,Q16586,,HGNC:10805 +GARD:0000448,Orphanet,1493,ORPHA:1493,1,EPG5,[hEPG5],ectopic P-granules 5 autophagy tethering factor,gene with protein product,18q12.3-q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23222957],615068,ENSG00000152223,,Q9HCE0,,HGNC:29331 +GARD:0000457,Orphanet,869,ORPHA:869,3,AAAS,"[Allgrove, triple-A, adracalin, aladin]",aladin WD repeat nucleoporin,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:11159947, PMID:11815731, PMID:20674935]",605378,ENSG00000094914,,Q9NRG9,Q9NRG9,HGNC:13666 +GARD:0000457,Orphanet,869,ORPHA:869,3,GMPPA,,GDP-mannose pyrophosphorylase A,gene with protein product,2q35,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24035193],615495,ENSG00000144591,,Q96IJ6,Q96IJ6,HGNC:22923 +GARD:0000457,Orphanet,869,ORPHA:869,3,TRAPPC11,"[FLJ12716, foie gras homolog (zebrafish), foigr, gry, gryzun homolog (Drosophila)]",trafficking protein particle complex subunit 11,gene with protein product,4q35.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27707803],614138,ENSG00000168538,,Q7Z392,Q7Z392,HGNC:25751 +GARD:0000459,Orphanet,93299,ORPHA:93299,1,TRIP11,"[CEV14, GMAP-210, GMAP210, Trip230, golgi-microtubule-associated-protein of 210 kDa]",thyroid hormone receptor interactor 11,gene with protein product,14q32.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20089971],604505,ENSG00000100815,,Q15643,Q15643,HGNC:12305 +GARD:0000460,Orphanet,93298,ORPHA:93298,1,SLC26A2,[DTDST],solute carrier family 26 member 2,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301689],606718,ENSG00000155850,1098,P50443,P50443,HGNC:10994 +GARD:0000465,Orphanet,33,ORPHA:33,1,IVD,"[ACAD2, IVDH]",isovaleryl-CoA dehydrogenase,gene with protein product,15q15.1,Disease-causing germline mutation(s) in,Assessed,,607036,ENSG00000128928,,P26440,P26440,HGNC:6186 +GARD:0000467,Orphanet,35,ORPHA:35,2,PCCA,,propionyl-CoA carboxylase subunit alpha,gene with protein product,13q32.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22593918],232000,ENSG00000175198,1266,P05165,P05165,HGNC:8653 +GARD:0000467,Orphanet,35,ORPHA:35,2,PCCB,,propionyl-CoA carboxylase subunit beta,gene with protein product,3q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22593918],232050,ENSG00000114054,1267,P05166,P05166,HGNC:8654 +GARD:0000496,Orphanet,1788,ORPHA:1788,1,SF3B4,"[Hsh49, SAP49, SF3b49]",splicing factor 3b subunit 4,gene with protein product,1q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27642715],605593,ENSG00000143368,,Q15427,Q15427,HGNC:10771 +GARD:0000497,Orphanet,952,ORPHA:952,2,EVC,"[DWF-1, EVC1]",EvC ciliary complex subunit 1,gene with protein product,4p16.2,Disease-causing germline mutation(s) in,Assessed,[PMID:10700184],604831,ENSG00000072840,,P57679,P57679,HGNC:3497 +GARD:0000497,Orphanet,952,ORPHA:952,2,EVC2,"[LBN, limbin]",EvC ciliary complex subunit 2,gene with protein product,4p16.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:16404586, PMID:22791528, PMID:23220543]",607261,ENSG00000173040,,Q86UK5,Q86UK5,HGNC:19747 +GARD:0000498,Orphanet,245,ORPHA:245,1,SF3B4,"[Hsh49, SAP49, SF3b49]",splicing factor 3b subunit 4,gene with protein product,1q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22541558],605593,ENSG00000143368,,Q15427,Q15427,HGNC:10771 +GARD:0000504,Orphanet,93316,ORPHA:93316,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:23653587],120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0000506,Orphanet,968,ORPHA:968,1,GDF5,"[BMP14, CDMP1, cartilage-derived morphogenetic protein-1]",growth differentiation factor 5,gene with protein product,20q11.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:8589725],601146,ENSG00000125965,,P43026,P43026,HGNC:4220 +GARD:0000507,Orphanet,40,ORPHA:40,1,NPR2,"[ANPb, GC-B, GUCY2B, guanylate cyclase 2B, guanylyl cyclase B]",natriuretic peptide receptor 2,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15146390, PMID:22691581]",108961,ENSG00000159899,1748,P20594,P20594,HGNC:7944 +GARD:0000508,Orphanet,955,ORPHA:955,1,NOTCH2,,notch receptor 2,gene with protein product,1p12,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:21378985],600275,ENSG00000134250,2859,Q04721,Q04721,HGNC:7882 +GARD:0000521,Orphanet,3243,ORPHA:3243,1,MEFV,"[FMF, TRIM20, marenostrin]","MEFV innate immuity regulator, pyrin",gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28835462],608107,ENSG00000103313,,O15553,O15553,HGNC:6998 +GARD:0000526,Orphanet,98833,ORPHA:98833,2,NPM1,"['nucleophosmin/nucleoplasmin family, member 1', B23, NPM, Nucleophosmin/nucleoplasmin family, member 1, Numatrin, nucleolar phosphoprotein B23, numatrin]",nucleophosmin 1,gene with protein product,5q35.1,Disease-causing somatic mutation(s) in,Not yet assessed,[PMID:22338050],164040,ENSG00000181163,,P06748,P06748,HGNC:7910 +GARD:0000526,Orphanet,98833,ORPHA:98833,2,FLT3,"[CD135, FLK2, STK1]",fms related receptor tyrosine kinase 3,gene with protein product,13q12.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:22338050],136351,ENSG00000122025,1807,P36888,P36888,HGNC:3765 +GARD:0000527,Orphanet,98834,ORPHA:98834,3,NPM1,"['nucleophosmin/nucleoplasmin family, member 1', B23, NPM, Nucleophosmin/nucleoplasmin family, member 1, Numatrin, nucleolar phosphoprotein B23, numatrin]",nucleophosmin 1,gene with protein product,5q35.1,Disease-causing somatic mutation(s) in,Not yet assessed,[PMID:22338050],164040,ENSG00000181163,,P06748,P06748,HGNC:7910 +GARD:0000527,Orphanet,98834,ORPHA:98834,3,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing somatic mutation(s) in,Not yet assessed,"[PMID:20425418, PMID:22338050]",164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0000527,Orphanet,98834,ORPHA:98834,3,FLT3,"[CD135, FLK2, STK1]",fms related receptor tyrosine kinase 3,gene with protein product,13q12.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:22338050],136351,ENSG00000122025,1807,P36888,P36888,HGNC:3765 +GARD:0000536,Orphanet,98829,ORPHA:98829,4,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Biomarker tested in,Assessed,"[PMID:23783394, PMID:24226631]",164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0000536,Orphanet,98829,ORPHA:98829,4,CBFB,[PEBP2B],core-binding factor subunit beta,gene with protein product,16q22.1,Part of a fusion gene in,Assessed,[PMID:19357394],121360,ENSG00000067955,,Q13951,Q13951,HGNC:1539 +GARD:0000536,Orphanet,98829,ORPHA:98829,4,MYH11,"[SMHC, SMMHC]",myosin heavy chain 11,gene with protein product,16p13.11,Part of a fusion gene in,Assessed,[PMID:19357394],160745,ENSG00000133392,,P35749,P35749,HGNC:7569 +GARD:0000536,Orphanet,98829,ORPHA:98829,4,FLT3,"[CD135, FLK2, STK1]",fms related receptor tyrosine kinase 3,gene with protein product,13q12.2,Biomarker tested in,Assessed,[PMID:23783394],136351,ENSG00000122025,1807,P36888,P36888,HGNC:3765 +GARD:0000538,Orphanet,520,ORPHA:520,13,TBL1XR1,"[C21, DC42, FLJ12894, IRA1, TBLR1]",TBL1X receptor 1,gene with protein product,3q26.32,Part of a fusion gene in,Assessed,[PMID:24782508],608628,ENSG00000177565,,Q9BZK7,Q9BZK7,HGNC:29529 +GARD:0000538,Orphanet,520,ORPHA:520,13,ZBTB16,"[PLZF, promyelocytic leukaemia zinc finger]",zinc finger and BTB domain containing 16,gene with protein product,11q23.2,Part of a fusion gene in,Assessed,"[PMID:10942371, PMID:8387545]",176797,ENSG00000109906,,Q05516,Q05516,HGNC:12930 +GARD:0000538,Orphanet,520,ORPHA:520,13,PRKAR1A,"[CNC1, Carney complex type 1]",protein kinase cAMP-dependent type I regulatory subunit alpha,gene with protein product,17q24.2,Part of a fusion gene in,Assessed,[PMID:17712046],188830,ENSG00000108946,1472,P10644,P10644,HGNC:9388 +GARD:0000538,Orphanet,520,ORPHA:520,13,RARA,"[NR1B1, RAR]",retinoic acid receptor alpha,gene with protein product,17q21.2,Part of a fusion gene in,Assessed,[PMID:10942371],180240,ENSG00000131759,590,P10276,P10276,HGNC:9864 +GARD:0000538,Orphanet,520,ORPHA:520,13,PML,"[MYL, RNF71, TRIM19]",PML nuclear body scaffold,gene with protein product,15q24.1,Part of a fusion gene in,Assessed,[PMID:10942371],102578,ENSG00000140464,,P29590,P29590,HGNC:9113 +GARD:0000538,Orphanet,520,ORPHA:520,13,NPM1,"['nucleophosmin/nucleoplasmin family, member 1', B23, NPM, Nucleophosmin/nucleoplasmin family, member 1, Numatrin, nucleolar phosphoprotein B23, numatrin]",nucleophosmin 1,gene with protein product,5q35.1,Part of a fusion gene in,Assessed,,164040,ENSG00000181163,,P06748,P06748,HGNC:7910 +GARD:0000538,Orphanet,520,ORPHA:520,13,NUMA1,,nuclear mitotic apparatus protein 1,gene with protein product,11q13.4,Part of a fusion gene in,Assessed,[PMID:9288109],164009,ENSG00000137497,,Q14980,Q14980,HGNC:8059 +GARD:0000538,Orphanet,520,ORPHA:520,13,STAT5B,,signal transducer and activator of transcription 5B,gene with protein product,17q21.2,Part of a fusion gene in,Assessed,[PMID:18221386],604260,ENSG00000173757,,P51692,P51692,HGNC:11367 +GARD:0000538,Orphanet,520,ORPHA:520,13,BCOR,"[BCL-6 coreceptor, BCL6 interacting corepressor, FLJ20285, KIAA1575]",BCL6 corepressor,gene with protein product,Xp11.4,Part of a fusion gene in,Assessed,"[PMID:20807888, PMID:25790901]",300485,ENSG00000183337,,Q6W2J9,Q6W2J9,HGNC:20893 +GARD:0000538,Orphanet,520,ORPHA:520,13,IRF2BP2,[IRF-2BP2],interferon regulatory factor 2 binding protein 2,gene with protein product,1q42.3,Part of a fusion gene in,Assessed,"[PMID:25583766, PMID:27193600]",615332,ENSG00000168264,,Q7Z5L9,Q7Z5L9,HGNC:21729 +GARD:0000538,Orphanet,520,ORPHA:520,13,FIP1L1,"[DKFZp586K0717, FIP1]",factor interacting with PAPOLA and CPSF1,gene with protein product,4q12,Part of a fusion gene in,Assessed,[PMID:18603554],607686,ENSG00000145216,,Q6UN15,Q6UN15,HGNC:19124 +GARD:0000538,Orphanet,520,ORPHA:520,13,STAT3,[APRF],signal transducer and activator of transcription 3,gene with protein product,17q21.2,Part of a fusion gene in,Assessed,[PMID:29237593],102582,ENSG00000168610,2994,P40763,P40763,HGNC:11364 +GARD:0000538,Orphanet,520,ORPHA:520,13,NABP1,"[DKFZp667M1322, FLJ13624, FLJ22833, MGC111163, SOSS-B2, SSB2, Sensor of single-strand DNA complex subunit B2, Single-stranded DNA-binding protein 2, hSSB2, sensor of single-strand DNA complex subunit B2, single-stranded DNA-binding protein 2]",nucleic acid binding protein 1,gene with protein product,2q32.3,Part of a fusion gene in,Assessed,[PMID:23287866],612103,ENSG00000173559,,Q96AH0,Q96AH0,HGNC:26232 +GARD:0000540,Orphanet,42,ORPHA:42,1,ACADM,"[ACAD1, MCAD, MCADH, medium-chain acyl-CoA dehydrogenase]",acyl-CoA dehydrogenase medium chain,gene with protein product,1p31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301597],607008,ENSG00000117054,,P11310,P11310,HGNC:89 +GARD:0000546,Orphanet,976,ORPHA:976,1,APRT,,adenine phosphoribosyltransferase,gene with protein product,16q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22700886, PMID:22934314]",102600,ENSG00000198931,,P07741,P07741,HGNC:626 +GARD:0000547,Orphanet,45,ORPHA:45,2,AMPD3,[erythrocyte-specific AMP deaminase],adenosine monophosphate deaminase 3,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:11139257, PMID:8004104]",102772,ENSG00000133805,,Q01432,Q01432,HGNC:470 +GARD:0000547,Orphanet,45,ORPHA:45,2,AMPD1,"[AMPD isoform M, MAD, MADA, skeletal muscle AMPD]",adenosine monophosphate deaminase 1,gene with protein product,1p13.2,Disease-causing germline mutation(s) in,Assessed,,102770,ENSG00000116748,,P23109,P23109,HGNC:468 +GARD:0000550,Orphanet,46,ORPHA:46,1,ADSL,,adenylosuccinate lyase,gene with protein product,22q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18524658],608222,ENSG00000239900,,P30566,P30566,HGNC:291 +GARD:0000555,Orphanet,95702,ORPHA:95702,1,NR0B1,"[AHCH, DAX1]",nuclear receptor subfamily 0 group B member 1,gene with protein product,Xp21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301604],300473,ENSG00000169297,635,P51843,P51843,HGNC:7960 +GARD:0000558,Orphanet,1501,ORPHA:1501,1,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Major susceptibility factor in,Assessed,[PMID:18515740],191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0000559,Orphanet,44,ORPHA:44,13,PEX3,,peroxisomal biogenesis factor 3,gene with protein product,6q24.2,Disease-causing germline mutation(s) in,Assessed,,603164,ENSG00000034693,,P56589,P56589,HGNC:8858 +GARD:0000559,Orphanet,44,ORPHA:44,13,PEX13,,peroxisomal biogenesis factor 13,gene with protein product,2p15,Disease-causing germline mutation(s) in,Assessed,,601789,ENSG00000162928,,Q92968,Q92968,HGNC:8855 +GARD:0000559,Orphanet,44,ORPHA:44,13,PEX1,,peroxisomal biogenesis factor 1,gene with protein product,7q21.2,Disease-causing germline mutation(s) in,Assessed,,602136,ENSG00000127980,,O43933,,HGNC:8850 +GARD:0000559,Orphanet,44,ORPHA:44,13,PEX6,"[PAF-2, PXAAA1]",peroxisomal biogenesis factor 6,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,,601498,ENSG00000124587,,Q13608,,HGNC:8859 +GARD:0000559,Orphanet,44,ORPHA:44,13,PEX19,"[D1S2223E, HK33, PMP1, PMPI, PXMP1, housekeeping gene, 33kD]",peroxisomal biogenesis factor 19,gene with protein product,1q23.2,Disease-causing germline mutation(s) in,Assessed,,600279,ENSG00000162735,,P40855,P40855,HGNC:9713 +GARD:0000559,Orphanet,44,ORPHA:44,13,PEX11B,,peroxisomal biogenesis factor 11 beta,gene with protein product,1q21.1,Disease-causing germline mutation(s) in,Assessed,,603867,ENSG00000131779,,O96011,O96011,HGNC:8853 +GARD:0000559,Orphanet,44,ORPHA:44,13,PEX10,[RNF69],peroxisomal biogenesis factor 10,gene with protein product,1p36.32,Disease-causing germline mutation(s) in,Assessed,,602859,ENSG00000157911,,O60683,O60683,HGNC:8851 +GARD:0000559,Orphanet,44,ORPHA:44,13,PEX5,"[PTS1R, peroxisomal import receptor 5, peroxisomal targeting signal 1 receptor]",peroxisomal biogenesis factor 5,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,,600414,ENSG00000139197,,P50542,P50542,HGNC:9719 +GARD:0000559,Orphanet,44,ORPHA:44,13,PEX26,[FLJ20695],peroxisomal biogenesis factor 26,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,,608666,ENSG00000215193,,Q7Z412,Q7Z412,HGNC:22965 +GARD:0000559,Orphanet,44,ORPHA:44,13,PEX2,"[PAF-1, PMP35, RNF72, ZWS3, Zellweger syndrome, peroxin 2]",peroxisomal biogenesis factor 2,gene with protein product,8q21.13,Disease-causing germline mutation(s) in,Assessed,,170993,ENSG00000164751,,P28328,P28328,HGNC:9717 +GARD:0000559,Orphanet,44,ORPHA:44,13,PEX16,,peroxisomal biogenesis factor 16,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,,603360,ENSG00000121680,,Q9Y5Y5,Q9Y5Y5,HGNC:8857 +GARD:0000559,Orphanet,44,ORPHA:44,13,PEX14,,peroxisomal biogenesis factor 14,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,,601791,ENSG00000142655,,O75381,O75381,HGNC:8856 +GARD:0000559,Orphanet,44,ORPHA:44,13,PEX12,,peroxisomal biogenesis factor 12,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,,601758,ENSG00000108733,,O00623,O00623,HGNC:8854 +GARD:0000564,Orphanet,83420,ORPHA:83420,2,SMN2,"[BCD541, GEMIN1, SMNC, TDRD16B, tudor domain containing 16B]","survival of motor neuron 2, centromeric",gene with protein product,5q13.2,Modifying germline mutation in,Assessed,[PMID:20301526],601627,ENSG00000205571,,Q16637,Q16637,HGNC:11118 +GARD:0000564,Orphanet,83420,ORPHA:83420,2,SMN1,"[BCD541, GEMIN1, SMA1, SMA2, SMA3, SMNT, TDRD16A, gemin-1, tudor domain containing 16A]","survival of motor neuron 1, telomeric",gene with protein product,5q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301526],600354,ENSG00000172062,,Q16637,Q16637,HGNC:11117 +GARD:0000575,Orphanet,51,ORPHA:51,7,SAMHD1,"[AGS5, Aicardi-Goutieres syndrome 5, HD domain containing 1, HDDC1, MOP-5, Mg11, SBBI88, monocyte protein 5]",SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1,gene with protein product,20q11.23,Disease-causing germline mutation(s) in,Assessed,"[PMID:19525956, PMID:20301648, PMID:20842748]",606754,ENSG00000101347,,Q9Y3Z3,Q9Y3Z3,HGNC:15925 +GARD:0000575,Orphanet,51,ORPHA:51,7,RNASEH2C,"[AGS3, AYP1, Aicardi-Goutieres syndrome 3]",ribonuclease H2 subunit C,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301648],610330,ENSG00000172922,,Q8TDP1,,HGNC:24116 +GARD:0000575,Orphanet,51,ORPHA:51,7,ADAR,[ADAR1],adenosine deaminase RNA specific,gene with protein product,1q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301648, PMID:23001123]",146920,ENSG00000160710,,P55265,P55265,HGNC:225 +GARD:0000575,Orphanet,51,ORPHA:51,7,IFIH1,"[Hlcd, IDDM19, MDA-5, MDA5, helicard, melanoma differentiation-associated gene 5]",interferon induced with helicase C domain 1,gene with protein product,2q24.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:24686847, PMID:24995871]",606951,ENSG00000115267,2921,Q9BYX4,Q9BYX4,HGNC:18873 +GARD:0000575,Orphanet,51,ORPHA:51,7,TREX1,[DRN3],three prime repair exonuclease 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:16845398, PMID:17357087, PMID:20301648, PMID:20799324]",606609,ENSG00000213689,,Q9NSU2,Q9NSU2,HGNC:12269 +GARD:0000575,Orphanet,51,ORPHA:51,7,RNASEH2B,[FLJ11712],ribonuclease H2 subunit B,gene with protein product,13q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301648],610326,ENSG00000136104,,Q5TBB1,,HGNC:25671 +GARD:0000575,Orphanet,51,ORPHA:51,7,RNASEH2A,"[AGS4, RNASEHI, RNHIA, RNHL]",ribonuclease H2 subunit A,gene with protein product,19p13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301648],606034,ENSG00000104889,,O75792,,HGNC:18518 +GARD:0000592,Orphanet,1000,ORPHA:1000,1,AP3D1,[ADTD],adaptor related protein complex 3 subunit delta 1,gene with protein product,19p13.3,Candidate gene tested in,Not yet assessed,,607246,ENSG00000065000,,O14617,,HGNC:568 +GARD:0000594,Orphanet,79434,ORPHA:79434,1,TYR,"[OCA1, OCA1A, OCAIA, oculocutaneous albinism IA]",tyrosinase,gene with protein product,11q14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301345],606933,ENSG00000077498,2643,P14679,P14679,HGNC:12442 +GARD:0000600,Orphanet,57,ORPHA:57,1,ALDOA,,"aldolase, fructose-bisphosphate A",gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,,103850,ENSG00000149925,,P04075,P04075,HGNC:414 +GARD:0000604,Orphanet,1010,ORPHA:1010,1,GJA1,"[CX43, ODD, ODOD, SDTY3, connexin 43, oculodentodigital dysplasia (syndactyly type III)]",gap junction protein alpha 1,gene with protein product,6q22.31,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25168385],121014,ENSG00000152661,728,P17302,P17302,HGNC:4274 +GARD:0000612,Orphanet,2850,ORPHA:2850,3,AHSG,"[A2HS, FETUA, HSGA, fetuin A]",alpha 2-HS glycoprotein,gene with protein product,3q27.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28054173],138680,ENSG00000145192,,P02765,R-HSA-8848910,HGNC:349 +GARD:0000612,Orphanet,2850,ORPHA:2850,3,ITGB6,,integrin subunit beta 6,gene with protein product,2q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26695873],147558,ENSG00000115221,2460,P18564,P18564,HGNC:6161 +GARD:0000612,Orphanet,2850,ORPHA:2850,3,LSS,"[OSC, Oxidosqualene-lanosterol cyclase]",lanosterol synthase,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30723320],600909,ENSG00000160285,2434,P48449,P48449,HGNC:6708 +GARD:0000614,Orphanet,701,ORPHA:701,1,HR,[AU],HR lysine demethylase and nuclear receptor corepressor,gene with protein product,8p21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:9445480],602302,ENSG00000168453,,O43593,O43593,HGNC:5172 +GARD:0000617,Orphanet,31,ORPHA:31,1,OGDH,"[E1k, KGD1, OGDC-E1, OGDH2]",oxoglutarate dehydrogenase,gene with protein product,7p13,Candidate gene tested in,Not yet assessed,,613022,ENSG00000105953,,Q02218,Q02218,HGNC:8124 +GARD:0000624,Orphanet,88918,ORPHA:88918,2,COL4A4,"[CA44, collagen of basement membrane, alpha-4 chain]",collagen type IV alpha 4 chain,gene with protein product,2q36.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:11572889, PMID:15086897, PMID:19129241, PMID:20301386, PMID:9269635]",120131,ENSG00000081052,,P53420,P53420,HGNC:2206 +GARD:0000624,Orphanet,88918,ORPHA:88918,2,COL4A3,[tumstatin],collagen type IV alpha 3 chain,gene with protein product,2q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301386],120070,ENSG00000169031,,Q01955,Q01955,HGNC:2204 +GARD:0000625,Orphanet,88919,ORPHA:88919,2,COL4A4,"[CA44, collagen of basement membrane, alpha-4 chain]",collagen type IV alpha 4 chain,gene with protein product,2q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301386],120131,ENSG00000081052,,P53420,P53420,HGNC:2206 +GARD:0000625,Orphanet,88919,ORPHA:88919,2,COL4A3,[tumstatin],collagen type IV alpha 3 chain,gene with protein product,2q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301386],120070,ENSG00000169031,,Q01955,Q01955,HGNC:2204 +GARD:0000634,Orphanet,65,ORPHA:65,21,PCYT1A,"['phosphate cytidylyltransferase 1, choline, alpha isoform', CCTalpha, CT, CTP:phosphocholine cytidylyltransferase-alpha, CTPCT, choline-phosphate cytidylyltransferase alpha, phosphorylcholine transferase alpha]","phosphate cytidylyltransferase 1A, choline",gene with protein product,3q29,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28272537],123695,ENSG00000161217,,P49585,P49585,HGNC:8754 +GARD:0000634,Orphanet,65,ORPHA:65,21,SPATA7,[HSD3],spermatogenesis associated 7,gene with protein product,14q31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19268277, PMID:20301475, PMID:25685757]",609868,ENSG00000042317,,Q9P0W8,,HGNC:20423 +GARD:0000634,Orphanet,65,ORPHA:65,21,GUCY2D,"[CYGD, LCA1, RETGC-1, ROS-GC1, retGC, retinal guanylate cyclase 1, rod outer segment membrane guanylate cyclase]","guanylate cyclase 2D, retinal",gene with protein product,17p13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301475, PMID:25685757]",600179,ENSG00000132518,2031,Q02846,Q02846,HGNC:4689 +GARD:0000634,Orphanet,65,ORPHA:65,21,CEP290,"[3H11Ag, BBS14, Bardet-Biedl syndrome 14, CT87, FLJ13615, JBTS5, Joubert syndrome 5, KIAA0373, LCA10, MKS4, Meckel syndrome, type 4, NPHP6, POC3, POC3 centriolar protein homolog (Chlamydomonas), SLSN6, cancer/testis antigen 87, nephrocystin-6, rd16]",centrosomal protein 290,gene with protein product,12q21.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301475, PMID:25685757]",610142,ENSG00000198707,,O15078,O15078,HGNC:29021 +GARD:0000634,Orphanet,65,ORPHA:65,21,RPGRIP1,"[CORD13, LCA6, RGI1]",RPGR interacting protein 1,gene with protein product,14q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:11528500, PMID:20301475, PMID:25685757]",605446,ENSG00000092200,,Q96KN7,Q96KN7,HGNC:13436 +GARD:0000634,Orphanet,65,ORPHA:65,21,IMPDH1,"[LCA11, sWSS2608]",inosine monophosphate dehydrogenase 1,gene with protein product,7q32.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:16384941, PMID:20301475, PMID:25685757]",146690,ENSG00000106348,2624,P20839,P20839,HGNC:6052 +GARD:0000634,Orphanet,65,ORPHA:65,21,NMNAT1,"[NMNAT, PNAT1, nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1]",nicotinamide nucleotide adenylyltransferase 1,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301475, PMID:22842227, PMID:25685757]",608700,ENSG00000173614,,Q9HAN9,Q9HAN9,HGNC:17877 +GARD:0000634,Orphanet,65,ORPHA:65,21,AIPL1,,aryl hydrocarbon receptor interacting protein like 1,gene with protein product,17p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301475, PMID:25685757]",604392,ENSG00000129221,,Q9NZN9,Q9NZN9,HGNC:359 +GARD:0000634,Orphanet,65,ORPHA:65,21,LRAT,"[LCA14, phosphatidylcholine--retinol O-acyltransferase]",lecithin retinol acyltransferase,gene with protein product,4q32.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17011878, PMID:20301475, PMID:25685757]",604863,ENSG00000121207,,O95237,O95237,HGNC:6685 +GARD:0000634,Orphanet,65,ORPHA:65,21,RD3,[LCA12],RD3 regulator of GUCY2D,gene with protein product,1q32.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:17186464, PMID:20301475, PMID:25685757]",180040,ENSG00000198570,,Q7Z3Z2,Q7Z3Z2,HGNC:19689 +GARD:0000634,Orphanet,65,ORPHA:65,21,RPE65,"[BCO family, member 3, BCO3, LCA2, all-trans-retinyl-palmitate hydrolase, rd12, retinol isomerase]",retinoid isomerohydrolase RPE65,gene with protein product,1p31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301475, PMID:25495949, PMID:25685757]",180069,ENSG00000116745,,Q16518,Q16518,HGNC:10294 +GARD:0000634,Orphanet,65,ORPHA:65,21,IFT140,"[KIAA0590, gs114]",intraflagellar transport 140,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26216056],614620,ENSG00000187535,,Q96RY7,Q96RY7,HGNC:29077 +GARD:0000634,Orphanet,65,ORPHA:65,21,USP45,[MGC14793],ubiquitin specific peptidase 45,gene with protein product,6q16.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30573563],618439,ENSG00000123552,,Q70EL2,Q70EL2,HGNC:20080 +GARD:0000634,Orphanet,65,ORPHA:65,21,TULP1,"[LCA15, TUBL1]",TUB like protein 1,gene with protein product,6p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:17962469, PMID:20301475, PMID:25685757]",602280,ENSG00000112041,,O00294,O00294,HGNC:12423 +GARD:0000634,Orphanet,65,ORPHA:65,21,KCNJ13,"[Kir1.4, Kir7.1, LCA16]",potassium inwardly rectifying channel subfamily J member 13,gene with protein product,2q37.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301475, PMID:21763485, PMID:25685757]",603208,ENSG00000115474,443,O60928,,HGNC:6259 +GARD:0000634,Orphanet,65,ORPHA:65,21,CRB1,[LCA8],crumbs cell polarity complex component 1,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301475, PMID:25685757]",604210,ENSG00000134376,,P82279,P82279,HGNC:2343 +GARD:0000634,Orphanet,65,ORPHA:65,21,GDF6,"[BMP13, KFS, KFS1]",growth differentiation factor 6,gene with protein product,8q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:23307924, PMID:25685757]",601147,ENSG00000156466,,Q6KF10,,HGNC:4221 +GARD:0000634,Orphanet,65,ORPHA:65,21,LCA5,,lebercilin LCA5,gene with protein product,6q14.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17546029, PMID:20301475, PMID:25685757]",611408,ENSG00000135338,,Q86VQ0,Q86VQ0,HGNC:31923 +GARD:0000634,Orphanet,65,ORPHA:65,21,RDH12,"[FLJ30273, LCA13, RP53, SDR7C2, short chain dehydrogenase/reductase family 7C, member 2]",retinol dehydrogenase 12,gene with protein product,14q24.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:15322982, PMID:20301475, PMID:25685757]",608830,ENSG00000139988,,Q96NR8,Q96NR8,HGNC:19977 +GARD:0000634,Orphanet,65,ORPHA:65,21,CRX,"[CRD, LCA7, OTX3, orthodenticle homeobox 3]",cone-rod homeobox,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301475, PMID:25685757, PMID:9931337]",602225,ENSG00000105392,,O43186,O43186,HGNC:2383 +GARD:0000634,Orphanet,65,ORPHA:65,21,IQCB1,"[KIAA0036, NPHP5, SLSN5, nephrocystin-5]",IQ motif containing B1,gene with protein product,3q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20881296, PMID:21901789]",609237,ENSG00000173226,,Q15051,Q15051,HGNC:28949 +GARD:0000635,Orphanet+OMIM,204000,OMIM:204000,1,GUCY2D,"[CYGD, LCA1, RETGC-1, ROS-GC1, retGC, retinal guanylate cyclase 1, rod outer segment membrane guanylate cyclase]","guanylate cyclase 2D, retinal",gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,600179,ENSG00000132518,objectId:2031,Q02846,Q02846,HGNC:4689 +GARD:0000636,Orphanet+OMIM,204100,OMIM:204100,1,RPE65,"[BCO family, BCO3, LCA2, all-trans-retinyl-palmitate hydrolase, member 3, rd12, retinol isomerase]",retinoid isomerohydrolase RPE65,gene with protein product,1p31.3,The molecular basis of the disorder is known,Unknown,,180069,ENSG00000116745,,Q16518,Q16518,HGNC:10294 +GARD:0000640,Orphanet,3319,ORPHA:3319,2,MPL,"[CD110, THPOR, TPOR]","MPL proto-oncogene, thrombopoietin receptor",gene with protein product,1p34.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19302922, PMID:24438083]",159530,ENSG00000117400,1722,P40238,P40238,HGNC:7217 +GARD:0000640,Orphanet,3319,ORPHA:3319,2,THPO,"[MPL ligand, MPLLG, TPO, c-mpl ligand, megakaryocyte colony-stimulating factor, megakaryocyte growth and development factor, megakaryocyte stimulating factor, myeloproliferative leukemia virus oncogene ligand, prepro-thrombopoietin]",thrombopoietin,gene with protein product,3q27.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29191945],600044,ENSG00000090534,,P40225,P40225,HGNC:11795 +GARD:0000645,Orphanet,100031,ORPHA:100031,6,LAMB3,"[BM600-125kDa, kalinin-140kDa, nicein-125kDa]",laminin subunit beta 3,gene with protein product,1q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23632796],150310,ENSG00000196878,,Q13751,Q13751,HGNC:6490 +GARD:0000645,Orphanet,100031,ORPHA:100031,6,AMBN,[enamel matrix protein],ameloblastin,gene with protein product,4q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24858907],601259,ENSG00000178522,,Q9NP70,Q9NP70,HGNC:452 +GARD:0000645,Orphanet,100031,ORPHA:100031,6,ITGB6,,integrin subunit beta 6,gene with protein product,2q24.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24305999],147558,ENSG00000115221,2460,P18564,P18564,HGNC:6161 +GARD:0000645,Orphanet,100031,ORPHA:100031,6,RELT,"[FLJ14993, receptor expressed in lymphoid tissues]",RELT TNF receptor,gene with protein product,11q13.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30506946],611211,ENSG00000054967,1892,Q969Z4,,HGNC:13764 +GARD:0000645,Orphanet,100031,ORPHA:100031,6,ENAM,,enamelin,gene with protein product,4q13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:11978766, PMID:14684688]",606585,ENSG00000132464,,Q9NRM1,Q9NRM1,HGNC:3344 +GARD:0000645,Orphanet,100031,ORPHA:100031,6,ACP4,[testicular acid phosphatase],acid phosphatase 4,gene with protein product,19q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27843125],606362,ENSG00000142513,,Q9BZG2,,HGNC:14376 +GARD:0000646,Orphanet,1031,ORPHA:1031,1,FAM20A,[DKFZp434F2322],FAM20A golgi associated secretory pathway pseudokinase,gene with protein product,17q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23434854],611062,ENSG00000108950,,Q96MK3,Q96MK3,HGNC:23015 +GARD:0000668,Orphanet,2802,ORPHA:2802,1,ABCB7,"[ASAT, Atm1p, EST140535]",ATP binding cassette subfamily B member 7,gene with protein product,Xq13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301496],300135,ENSG00000131269,774,O75027,O75027,HGNC:48 +GARD:0000671,Orphanet,63442,ORPHA:63442,1,GDF5,"[BMP14, CDMP1, cartilage-derived morphogenetic protein-1]",growth differentiation factor 5,gene with protein product,20q11.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:15173244, PMID:22828428]",601146,ENSG00000125965,,P43026,P43026,HGNC:4220 +GARD:0000696,Orphanet,1072,ORPHA:1072,1,TP63,"[EEC3, KET, NBP, OFC8, SHFM4, p51, p53CP, p63, p73H, p73L]",tumor protein p63,gene with protein product,3q28,Disease-causing germline mutation(s) in,Assessed,[PMID:32953416],603273,ENSG00000073282,,Q9H3D4,Q9H3D4,HGNC:15979 +GARD:0000713,Orphanet,2470,ORPHA:2470,2,RARB,"[HAP, NR1B2, RRB2]",retinoic acid receptor beta,gene with protein product,3p24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24075189],180220,ENSG00000077092,591,P10826,P10826,HGNC:9865 +GARD:0000713,Orphanet,2470,ORPHA:2470,2,STRA6,"[FLJ12541, RBP receptor, retinol binding protein 4 receptor]",signaling receptor and transporter of retinol STRA6,gene with protein product,15q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17503335],610745,ENSG00000137868,,Q9BX79,Q9BX79,HGNC:30650 +GARD:0000722,Orphanet,1106,ORPHA:1106,1,SMOC1,,SPARC related modular calcium binding 1,gene with protein product,14q24.1,Disease-causing germline mutation(s) in,Assessed,,608488,ENSG00000198732,,Q9H4F8,Q9H4F8,HGNC:20318 +GARD:0000731,Orphanet,79,ORPHA:79,1,SERPINF2,"[A2AP, AAP, ALPHA-2-PI, API, alpha-2-antiplasmin, alpha-2-plasmin inhibitor, alpha2AP]",serpin family F member 2,gene with protein product,17p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:11472338, PMID:17961166]",613168,ENSG00000167711,,P08697,P08697,HGNC:9075 +GARD:0000743,Orphanet,3193,ORPHA:3193,1,ELN,"[SVAS, WBS, WS, Williams-Beuren syndrome, supravalvular aortic stenosis, tropoelastin]",elastin,gene with protein product,7q11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10942104, PMID:19844261]",130160,ENSG00000049540,,P15502,P15502,HGNC:3327 +GARD:0000759,Orphanet,309020,ORPHA:309020,1,APOC2,,apolipoprotein C2,gene with protein product,19q13.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24589565],608083,ENSG00000234906,,P02655,P02655,HGNC:609 +GARD:0000770,Orphanet,35708,ORPHA:35708,1,DDC,"[AADC, aromatic L-amino acid decarboxylase]",dopa decarboxylase,gene with protein product,7p12.2-p12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:21541720, PMID:24865461]",107930,ENSG00000132437,1271,P20711,P20711,HGNC:2719 +GARD:0000774,Orphanet,3342,ORPHA:3342,1,SLC2A10,[GLUT10],solute carrier family 2 member 10,gene with protein product,20q13.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:16550171, PMID:17935213, PMID:20547159]",606145,ENSG00000197496,886,O95528,O95528,HGNC:13444 +GARD:0000787,Orphanet,1146,ORPHA:1146,6,MYBPC1,"[slow skeletal-type muscle myosin-binding-protein C, ssMyBP-C]",myosin binding protein C1,gene with protein product,12q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20045868],160794,ENSG00000196091,,Q00872,Q00872,HGNC:7549 +GARD:0000787,Orphanet,1146,ORPHA:1146,6,NALCN,"[CanIon, bA430M15.1]","sodium leak channel, non-selective",gene with protein product,13q32.3-q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25683120],611549,ENSG00000102452,750,Q8IZF0,Q8IZF0,HGNC:19082 +GARD:0000787,Orphanet,1146,ORPHA:1146,6,TPM2,"[DA1, NEM4, nemaline myopathy type 4]",tropomyosin 2,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23401156],190990,ENSG00000198467,,P07951,P07951,HGNC:12011 +GARD:0000787,Orphanet,1146,ORPHA:1146,6,TNNI2,"[DA2B, FSSV, troponin I fast twitch 2, troponin I, fast-twitch skeletal muscle isoform]","troponin I2, fast skeletal type",gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:23401156],191043,ENSG00000130598,,P48788,P48788,HGNC:11946 +GARD:0000787,Orphanet,1146,ORPHA:1146,6,TNNT3,"[AMCD2B, DA2B, DKFZp779M2348, FSSV, troponin-T3, skeletal, fast]","troponin T3, fast skeletal type",gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:23401156],600692,ENSG00000130595,,P45378,P45378,HGNC:11950 +GARD:0000787,Orphanet,1146,ORPHA:1146,6,MYH3,"[HEMHC, MYHC-EMB, MYHSE1, SMHCE, muscle embryonic myosin heavy chain 3, myosin, skeletal, heavy chain, embryonic 1]",myosin heavy chain 3,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23401156],160720,ENSG00000109063,,P11055,P11055,HGNC:7573 +GARD:0000790,Orphanet,1143,ORPHA:1143,1,ERGIC1,"[ERGIC-32, ERGIC32, KIAA1181, NET24]",endoplasmic reticulum-golgi intermediate compartment 1,gene with protein product,5q35.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28317099],617946,ENSG00000113719,,Q969X5,Q969X5,HGNC:29205 +GARD:0000794,Orphanet,2697,ORPHA:2697,2,VPS33B,[FLJ14848],VPS33B late endosome and lysosome associated,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25239142],608552,ENSG00000184056,,Q9H267,,HGNC:12712 +GARD:0000794,Orphanet,2697,ORPHA:2697,2,VIPAS39,"[SPE-39, SPE39, VIPAR, VPS16B, VPS33B interacting protein, apical-basolateral polarity regulator, hSPE-39]","VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog",gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25239142],613401,ENSG00000151445,,Q9H9C1,,HGNC:20347 +GARD:0000816,Orphanet,2753,ORPHA:2753,1,TCTN3,"[DKFZP564D116, JBTS18, TECT3]",tectonic family member 3,gene with protein product,10q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22883145],613847,ENSG00000119977,,Q6NUS6,Q6NUS6,HGNC:24519 +GARD:0000819,Orphanet,1231,ORPHA:1231,1,TWIST2,"[DERMO1, Dermo-1, bHLHa39]",twist family bHLH transcription factor 2,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26119818],607556,ENSG00000233608,,Q8WVJ9,Q8WVJ9,HGNC:20670 +GARD:0000820,Orphanet+OMIM,209900,OMIM:209900,3,BBS1,[FLJ23590],Bardet-Biedl syndrome 1,gene with protein product,11q13.2,The molecular basis of the disorder is known,Unknown,,209901,ENSG00000174483,,Q8NFJ9,Q8NFJ9,HGNC:966 +GARD:0000820,Orphanet+OMIM,209900,OMIM:209900,3,CCDC28B,"[MGC1203, RP4-622L5.5]",coiled-coil domain containing 28B,gene with protein product,1p35.2,The molecular basis of the disorder is known,Unknown,,610162,ENSG00000160050,,Q9BUN5,,HGNC:28163 +GARD:0000820,Orphanet+OMIM,209900,OMIM:209900,3,ARL6,[RP55],ADP ribosylation factor like GTPase 6,gene with protein product,3q11.2,The molecular basis of the disorder is known,Unknown,,608845,ENSG00000113966,,Q9H0F7,Q9H0F7,HGNC:13210 +GARD:0000821,Orphanet+OMIM,615981,OMIM:615981,1,BBS2,,Bardet-Biedl syndrome 2,gene with protein product,16q13,The molecular basis of the disorder is known,Unknown,,606151,ENSG00000125124,,Q9BXC9,Q9BXC9,HGNC:967 +GARD:0000822,Orphanet+OMIM,600151,OMIM:600151,1,ARL6,[RP55],ADP ribosylation factor like GTPase 6,gene with protein product,3q11.2,The molecular basis of the disorder is known,Unknown,,608845,ENSG00000113966,,Q9H0F7,Q9H0F7,HGNC:13210 +GARD:0000823,Orphanet+OMIM,615982,OMIM:615982,1,BBS4,,Bardet-Biedl syndrome 4,gene with protein product,15q24.1,The molecular basis of the disorder is known,Unknown,,600374,ENSG00000140463,,Q96RK4,Q96RK4,HGNC:969 +GARD:0000824,Orphanet,572,ORPHA:572,4,RFXANK,"[ANKRA1, BLS, DNA-binding protein RFXANK, F14150_1, MGC138628, RFX-B, RFX-Bdelta4, ankyrin repeat-containing regulatory factor X-associated protein, regulatory factor X subunit B]",regulatory factor X associated ankyrin containing protein,gene with protein product,19p13.11,Disease-causing germline mutation(s) in,Assessed,,603200,ENSG00000064490,,O14593,,HGNC:9987 +GARD:0000824,Orphanet,572,ORPHA:572,4,RFX5,,regulatory factor X5,gene with protein product,1q21.3,Disease-causing germline mutation(s) in,Assessed,,601863,ENSG00000143390,,P48382,P48382,HGNC:9986 +GARD:0000824,Orphanet,572,ORPHA:572,4,RFXAP,,regulatory factor X associated protein,gene with protein product,13q13.3,Disease-causing germline mutation(s) in,Assessed,,601861,ENSG00000133111,,O00287,,HGNC:9988 +GARD:0000824,Orphanet,572,ORPHA:572,4,CIITA,"[C2TA, NLR family, acid domain containing, NLRA, nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing]",class II major histocompatibility complex transactivator,gene with protein product,16p13.13,Disease-causing germline mutation(s) in,Assessed,,600005,ENSG00000179583,1767,P33076,P33076,HGNC:7067 +GARD:0000826,Orphanet,1826,ORPHA:1826,2,MAP3K7,"[MEKK7, TGF-beta activated kinase 1]",mitogen-activated protein kinase kinase kinase 7,gene with protein product,6q15,Disease-causing germline mutation(s) in,Assessed,[PMID:27426733],602614,ENSG00000135341,2082,O43318,O43318,HGNC:6859 +GARD:0000826,Orphanet,1826,ORPHA:1826,2,FLNA,"[ABP-280, actin binding protein 280, alpha filamin]",filamin A,gene with protein product,Xq28,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:16596676, PMID:16835913, PMID:20301567]",300017,ENSG00000196924,,P21333,P21333,HGNC:3754 +GARD:0000844,Orphanet+OMIM,255700,OMIM:255700,1,CLCN1,"[CLC1, ClC-1, Thomsen disease, autosomal dominant]",chloride voltage-gated channel 1,gene with protein product,7q34,The molecular basis of the disorder is known,Unknown,,118425,ENSG00000188037,objectId:698,P35523,P35523,HGNC:2019 +GARD:0000848,Orphanet,117,ORPHA:117,15,CCR1,"[CD191, CKR-1, MIP1aR]",C-C motif chemokine receptor 1,gene with protein product,3p21.31,Major susceptibility factor in,Assessed,[PMID:26097239],601159,ENSG00000163823,58,P32246,P32246,HGNC:1602 +GARD:0000848,Orphanet,117,ORPHA:117,15,HLA-B,,"major histocompatibility complex, class I, B",gene with protein product,6p21.33,Major susceptibility factor in,Assessed,[PMID:20622878],142830,ENSG00000234745,,P01889,P30486,HGNC:4932 +GARD:0000848,Orphanet,117,ORPHA:117,15,IFNGR1,[CD119],interferon gamma receptor 1,gene with protein product,6q23.3,Major susceptibility factor in,Assessed,[PMID:33393726],107470,ENSG00000027697,1725,P15260,P15260,HGNC:5439 +GARD:0000848,Orphanet,117,ORPHA:117,15,STAT4,,signal transducer and activator of transcription 4,gene with protein product,2q32.2-q32.3,Major susceptibility factor in,Assessed,"[PMID:23001997, PMID:26097239]",600558,ENSG00000138378,,Q14765,Q14765,HGNC:11365 +GARD:0000848,Orphanet,117,ORPHA:117,15,UBAC2,"[FLJ30548, RP11-178C10.1]",UBA domain containing 2,gene with protein product,13q32.3,Major susceptibility factor in,Assessed,"[PMID:21918955, PMID:22455605]",,ENSG00000134882,,Q8NBM4,,HGNC:20486 +GARD:0000848,Orphanet,117,ORPHA:117,15,IL12A-AS1,[ILAS1-AS1],IL12A antisense RNA 1,Non-coding RNA,3q25.33,Major susceptibility factor in,Assessed,[PMID:26097239],,ENSG00000244040,,,,HGNC:49094 +GARD:0000848,Orphanet,117,ORPHA:117,15,FAS,"[APO-1, CD95, TNF receptor superfamily member 6]",Fas cell surface death receptor,gene with protein product,10q23.31,Major susceptibility factor in,Assessed,[PMID:26136352],134637,ENSG00000026103,1875,P25445,P25445,HGNC:11920 +GARD:0000848,Orphanet,117,ORPHA:117,15,IL12A,"[CLMF, IL-12, subunit p35, IL-12A, IL35 subunit, NF cell stimulatory factor chain 1, NFSK, cytotoxic lymphocyte maturation factor 1, p35, interleukin 12, p35, interleukin-12 alpha chain, natural killer cell stimulatory factor 1, 35 kD subunit, p35]",interleukin 12A,gene with protein product,3q25.33,Major susceptibility factor in,Assessed,[PMID:25799145],161560,ENSG00000168811,,P29459,P29459,HGNC:5969 +GARD:0000848,Orphanet,117,ORPHA:117,15,MEFV,"[FMF, TRIM20, marenostrin]","MEFV innate immuity regulator, pyrin",gene with protein product,16p13.3,Major susceptibility factor in,Assessed,[PMID:23633568],608107,ENSG00000103313,,O15553,O15553,HGNC:6998 +GARD:0000848,Orphanet,117,ORPHA:117,15,IL23R,[IL-23R],interleukin 23 receptor,gene with protein product,1p31.3,Major susceptibility factor in,Assessed,[PMID:23633568],607562,ENSG00000162594,1717,Q5VWK5,Q5VWK5,HGNC:19100 +GARD:0000848,Orphanet,117,ORPHA:117,15,KLRC4,[NKG2-F],killer cell lectin like receptor C4,gene with protein product,12p13.2,Major susceptibility factor in,Assessed,[PMID:26097239],602893,ENSG00000183542,,O43908,,HGNC:6377 +GARD:0000848,Orphanet,117,ORPHA:117,15,ERAP1,"[A-LAP, ARTS-1, ERAAP1, KIAA0525, PILS-AP, adipocyte-derived leucine aminopeptidase, aminopeptidase regulator of TNFR1 shedding, puromycin-insensitive leucyl-specific aminopeptidase]",endoplasmic reticulum aminopeptidase 1,gene with protein product,5q15,Major susceptibility factor in,Assessed,[PMID:26097239],606832,ENSG00000164307,1566,Q9NZ08,Q9NZ08,HGNC:18173 +GARD:0000848,Orphanet,117,ORPHA:117,15,IL10,"[CSIF, IL-10, IL10A, T-cell growth inhibitory factor, TGIF, cytokine synthesis inhibitory factor]",interleukin 10,gene with protein product,1q32.1,Major susceptibility factor in,Assessed,"[PMID:20622878, PMID:26015771]",124092,ENSG00000136634,,P22301,P22301,HGNC:5962 +GARD:0000848,Orphanet,117,ORPHA:117,15,C4A,"[C4, C4A2, C4A3, C4A4, C4A6, C4B, C4S, CO4, CPAMD2, RG]",complement C4A (Rodgers blood group),gene with protein product,6p21.33,Major susceptibility factor in,Assessed,[PMID:23918728],120810,ENSG00000244731,,P0C0L4,P0C0L4,HGNC:1323 +GARD:0000848,Orphanet,117,ORPHA:117,15,TLR4,"[ARMD10, CD284, TLR-4, hToll]",toll like receptor 4,gene with protein product,9q33.1,Major susceptibility factor in,Assessed,[PMID:23633568],603030,ENSG00000136869,1754,O00206,O00206,HGNC:11850 +GARD:0000856,Orphanet+OMIM,601764,OMIM:601764,1,BFIS1,[BFIC1],Benign familial infantile seizures,unknown,19q,The disease phenotype itself was mapped,Unknown,,601764,,,,,GeneID:8181 +GARD:0000857,Orphanet,306,ORPHA:306,5,KCNQ3,[Kv7.3],potassium voltage-gated channel subfamily Q member 3,gene with protein product,8q24.22,Disease-causing germline mutation(s) in,Assessed,[PMID:23360469],602232,ENSG00000184156,562,O43525,O43525,HGNC:6297 +GARD:0000857,Orphanet,306,ORPHA:306,5,PRRT2,"[DKFZp547J199, DSPB3, EKD1, FICCA, FLJ25513, IFITMD1, Interferon induced transmembrane protein domain containing 1, PKC, dispanin subfamily B member 3, interferon induced transmembrane protein domain containing 1]",proline rich transmembrane protein 2,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22243967, PMID:22399141, PMID:22623405]",614386,ENSG00000167371,,Q7Z6L0,,HGNC:30500 +GARD:0000857,Orphanet,306,ORPHA:306,5,SCN2A,"[HBSCI, HBSCII, Nav1.2]",sodium voltage-gated channel alpha subunit 2,gene with protein product,2q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23360469],182390,ENSG00000136531,579,Q99250,Q99250,HGNC:10588 +GARD:0000857,Orphanet,306,ORPHA:306,5,KCNQ2,"[BFNC, ENB1, HNSPC, KCNA11, Kv7.2]",potassium voltage-gated channel subfamily Q member 2,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,,602235,ENSG00000075043,561,O43526,O43526,HGNC:6296 +GARD:0000857,Orphanet,306,ORPHA:306,5,SCN8A,"[CIAT, CerIII, NaCh6, Nav1.6, PN4]",sodium voltage-gated channel alpha subunit 8,gene with protein product,12q13.13,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26677014],600702,ENSG00000196876,583,Q9UQD0,Q9UQD0,HGNC:10596 +GARD:0000867,Orphanet,133,ORPHA:133,1,HLA-DPB1,,"major histocompatibility complex, class II, DP beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,[PMID:22972925],142858,ENSG00000223865,,P04440,P04440,HGNC:4940 +GARD:0000869,Orphanet,118,ORPHA:118,1,MANBA,[beta-mannosidase A],mannosidase beta,gene with protein product,4q24,Disease-causing germline mutation(s) in,Assessed,[PMID:18980795],609489,ENSG00000109323,,O00462,O00462,HGNC:6831 +GARD:0000872,Orphanet,134,ORPHA:134,1,ACAT1,"[THIL, acetoacetyl Coenzyme A thiolase]",acetyl-CoA acetyltransferase 1,gene with protein product,11q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23430882],607809,ENSG00000075239,2435,P24752,P24752,HGNC:93 +GARD:0000873,Orphanet,610,ORPHA:610,4,COL6A2,,collagen type VI alpha 2 chain,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301676],120240,ENSG00000142173,,P12110,P12110,HGNC:2212 +GARD:0000873,Orphanet,610,ORPHA:610,4,COL12A1,[collagen type XII proteoglycan],collagen type XII alpha 1 chain,gene with protein product,6q13-q14.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:24334604, PMID:24334769]",120320,ENSG00000111799,,Q99715,Q99715,HGNC:2188 +GARD:0000873,Orphanet,610,ORPHA:610,4,COL6A3,,collagen type VI alpha 3 chain,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301676],120250,ENSG00000163359,,P12111,P12111,HGNC:2213 +GARD:0000873,Orphanet,610,ORPHA:610,4,COL6A1,,collagen type VI alpha 1 chain,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301676],120220,ENSG00000142156,,P12109,P12109,HGNC:2211 +GARD:0000894,Orphanet,79241,ORPHA:79241,1,BTD,[biotinase],biotinidase,gene with protein product,3p25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301497],609019,ENSG00000169814,,P43251,P43251,HGNC:1122 +GARD:0000914,Orphanet,50945,ORPHA:50945,1,PTH1R,,parathyroid hormone 1 receptor,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:9649554, PMID:9745456, PMID:9832466]",168468,ENSG00000160801,331,Q03431,Q03431,HGNC:9608 +GARD:0000915,Orphanet,125,ORPHA:125,1,BLM,"[BS, RECQ2, RECQL3]",BLM RecQ like helicase,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301572],604610,ENSG00000197299,,P54132,P54132,HGNC:1058 +GARD:0000917,Orphanet,16,ORPHA:16,2,OPN1LW,"[COD5, cone dystrophy 5 (X-linked)]","opsin 1, long wave sensitive",gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:15069569],300822,ENSG00000102076,2961,P04000,P04000,HGNC:9936 +GARD:0000917,Orphanet,16,ORPHA:16,2,OPN1MW,"[COD5, OPN1MW1, cone dystrophy 5 (X-linked)]","opsin 1, medium wave sensitive",gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:15069569],300821,ENSG00000268221,2962,P04001,P04001,HGNC:4206 +GARD:0000933,Orphanet,1263,ORPHA:1263,1,FLNB,"[ABP-278, FH1, TABP, TAP, actin binding protein 278, beta filamin]",filamin B,gene with protein product,3p14.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15994868, PMID:20301736]",603381,ENSG00000136068,,O75369,O75369,HGNC:3755 +GARD:0000936,Orphanet,127,ORPHA:127,1,PHF6,"[CENP-31, KIAA1823, MGC14797, centromere protein 31]",PHD finger protein 6,gene with protein product,Xq26.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12415272, PMID:23229552]",300414,ENSG00000156531,,Q8IWS0,,HGNC:18145 +GARD:0000944,Orphanet,1180,ORPHA:1180,1,PNPLA6,"[NTE, SPG39, SWS, iPLA2delta, neuropathy target esterase, sws]",patatin like phospholipase domain containing 6,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24355708],603197,ENSG00000032444,,Q8IY17,Q8IY17,HGNC:16268 +GARD:0000955,Orphanet,1299,ORPHA:1299,1,CDH11,"[CAD11, OB, OB-Cadherin]",cadherin 11,gene with protein product,16q21,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:28988429, PMID:29271567]",600023,ENSG00000140937,,P55287,P55287,HGNC:1750 +GARD:0000957,Orphanet,1519,ORPHA:1519,1,SPECC1L,"[CYTSA, KIAA0376, cytokinesis and spindle organization A]",sperm antigen with calponin homology and coiled-coil domains 1 like,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:26111080],614140,ENSG00000100014,,Q69YQ0,Q69YQ0,HGNC:29022 +GARD:0000958,Orphanet,1272,ORPHA:1272,1,MAF,[c-MAF],MAF bZIP transcription factor,gene with protein product,16q23.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:25865493, PMID:8834052, PMID:8867660]",177075,ENSG00000178573,,O75444,,HGNC:6776 +GARD:0000966,Orphanet,1275,ORPHA:1275,2,MACROH2A1,[macroH2A1.2],macroH2A.1 histone,gene with protein product,5q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30711920],610054,ENSG00000113648,,O75367,O75367,HGNC:4740 +GARD:0000966,Orphanet,1275,ORPHA:1275,2,PITX1,"[POTX, PTX1]",paired like homeodomain 1,gene with protein product,5q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23022097],602149,ENSG00000069011,,P78337,P78337,HGNC:9004 +GARD:0000967,Orphanet,1276,ORPHA:1276,1,PDE3A,"[CGI-PDE, cGMP-inhibited 3',5'-cyclic phosphodiesterase A]",phosphodiesterase 3A,gene with protein product,12p12.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25961942],123805,ENSG00000172572,1298,Q14432,Q14432,HGNC:8778 +GARD:0000978,Orphanet,93388,ORPHA:93388,3,BMPR1B,"[ALK6, CDw293]",bone morphogenetic protein receptor type 1B,gene with protein product,4q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25758993],603248,ENSG00000138696,1789,O00238,O00238,HGNC:1077 +GARD:0000978,Orphanet,93388,ORPHA:93388,3,IHH,"[BDA1, HHG2]",Indian hedgehog signaling molecule,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:11455389],600726,ENSG00000163501,,Q14623,Q14623,HGNC:5956 +GARD:0000978,Orphanet,93388,ORPHA:93388,3,GDF5,"[BMP14, CDMP1, cartilage-derived morphogenetic protein-1]",growth differentiation factor 5,gene with protein product,20q11.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20683927],601146,ENSG00000125965,,P43026,P43026,HGNC:4220 +GARD:0000979,Orphanet,93396,ORPHA:93396,3,BMPR1B,"[ALK6, CDw293]",bone morphogenetic protein receptor type 1B,gene with protein product,4q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:14523231],603248,ENSG00000138696,1789,O00238,O00238,HGNC:1077 +GARD:0000979,Orphanet,93396,ORPHA:93396,3,BMP2,,bone morphogenetic protein 2,gene with protein product,20p12.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19327734, PMID:24710560]",112261,ENSG00000125845,,P12643,P12643,HGNC:1069 +GARD:0000979,Orphanet,93396,ORPHA:93396,3,GDF5,"[BMP14, CDMP1, cartilage-derived morphogenetic protein-1]",growth differentiation factor 5,gene with protein product,20q11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:16014698],601146,ENSG00000125965,,P43026,P43026,HGNC:4220 +GARD:0000986,Orphanet,93384,ORPHA:93384,2,BMPR1B,"[ALK6, CDw293]",bone morphogenetic protein receptor type 1B,gene with protein product,4q22.3,Candidate gene tested in,Not yet assessed,[PMID:16957682],603248,ENSG00000138696,1789,O00238,O00238,HGNC:1077 +GARD:0000986,Orphanet,93384,ORPHA:93384,2,GDF5,"[BMP14, CDMP1, cartilage-derived morphogenetic protein-1]",growth differentiation factor 5,gene with protein product,20q11.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:12357473],601146,ENSG00000125965,,P43026,P43026,HGNC:4220 +GARD:0000987,Orphanet,93387,ORPHA:93387,2,PTHLH,"[HHM, PLP, PTHR, PTHRP, osteostatin, parathyroid hormone-like hormone preproprotein, parathyroid hormone-related protein preproprotein]",parathyroid hormone like hormone,gene with protein product,12p11.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20170896],168470,ENSG00000087494,,P12272,P12272,HGNC:9607 +GARD:0000987,Orphanet,93387,ORPHA:93387,2,HOXD13,[synpolydactyly],homeobox D13,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12649808],142989,ENSG00000128714,,P35453,P35453,HGNC:5136 +GARD:0000994,Orphanet,263482,ORPHA:263482,1,TRPV4,"[CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2, VROAC, osmosensitive transient receptor potential channel 4]",transient receptor potential cation channel subfamily V member 4,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20503319, PMID:24830047]",605427,ENSG00000111199,510,Q9HBA0,Q9HBA0,HGNC:18083 +GARD:0001019,Orphanet,90354,ORPHA:90354,2,ZNF469,"[KIAA1858, Zfp469]",zinc finger protein 469,gene with protein product,16q24.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:19661234, PMID:20938016]",612078,ENSG00000225614,,Q96JG9,,HGNC:23216 +GARD:0001019,Orphanet,90354,ORPHA:90354,2,PRDM5,[PFM2],PR/SET domain 5,gene with protein product,4q27,Disease-causing germline mutation(s) in,Assessed,[PMID:21664999],614161,ENSG00000138738,,Q9NQX1,Q9NQX1,HGNC:9349 +GARD:0001029,Orphanet,2771,ORPHA:2771,2,PLOD2,"[LH2, lysyl hydroxlase 2, procollagen-lysine 5-dioxygenase]","procollagen-lysine,2-oxoglutarate 5-dioxygenase 2",gene with protein product,3q24,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:15523624, PMID:22689593]",601865,ENSG00000152952,,O00469,O00469,HGNC:9082 +GARD:0001029,Orphanet,2771,ORPHA:2771,2,FKBP10,"[FKBP6, FKBP65, FLJ20683, FLJ22041, FLJ23833, hFKBP65]",FKBP prolyl isomerase 10,gene with protein product,17q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22085994, PMID:22689593, PMID:22949511]",607063,ENSG00000141756,,Q96AY3,,HGNC:18169 +GARD:0001030,Orphanet,130,ORPHA:130,22,KCNJ8,[Kir6.1],potassium inwardly rectifying channel subfamily J member 8,gene with protein product,12p12.1,Candidate gene tested in,Not yet assessed,"[PMID:20301690, PMID:22056721]",600935,ENSG00000121361,441,Q15842,Q15842,HGNC:6269 +GARD:0001030,Orphanet,130,ORPHA:130,22,CACNB2,,calcium voltage-gated channel auxiliary subunit beta 2,gene with protein product,10p12,Candidate gene tested in,Not yet assessed,[PMID:20301690],600003,ENSG00000165995,,Q08289,Q08289,HGNC:1402 +GARD:0001030,Orphanet,130,ORPHA:130,22,SLMAP,"[KIAA1601, SLAP, Sarcolemmal-associated protein]",sarcolemma associated protein,gene with protein product,3p14.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301690, PMID:23064965]",602701,ENSG00000163681,,Q14BN4,Q14BN4,HGNC:16643 +GARD:0001030,Orphanet,130,ORPHA:130,22,PKP2,,plakophilin 2,gene with protein product,12p11.21,Candidate gene tested in,Not yet assessed,[PMID:27085656],602861,ENSG00000057294,,Q99959,Q99959,HGNC:9024 +GARD:0001030,Orphanet,130,ORPHA:130,22,KCNE3,"[HOKPP, MiRP2]",potassium voltage-gated channel subfamily E regulatory subunit 3,gene with protein product,11q13.4,Candidate gene tested in,Not yet assessed,[PMID:20301690],604433,ENSG00000175538,,Q9Y6H6,Q9Y6H6,HGNC:6243 +GARD:0001030,Orphanet,130,ORPHA:130,22,ABCC9,"[CMD1O, SUR2, sulfonylurea receptor 2]",ATP binding cassette subfamily C member 9,gene with protein product,12p12.1,Candidate gene tested in,Not yet assessed,[PMID:24439875],601439,ENSG00000069431,2746,O60706,O60706,HGNC:60 +GARD:0001030,Orphanet,130,ORPHA:130,22,SCN2B,,sodium voltage-gated channel beta subunit 2,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:23559163, PMID:30821013]",601327,ENSG00000149575,,O60939,O60939,HGNC:10589 +GARD:0001030,Orphanet,130,ORPHA:130,22,KCND3,"[KSHIVB, Kv4.3]",potassium voltage-gated channel subfamily D member 3,gene with protein product,1p13.2,Candidate gene tested in,Not yet assessed,"[PMID:20301690, PMID:21349352]",605411,ENSG00000171385,554,Q9UK17,Q9UK17,HGNC:6239 +GARD:0001030,Orphanet,130,ORPHA:130,22,TRPM4,[FLJ20041],transient receptor potential cation channel subfamily M member 4,gene with protein product,19q13.33,Candidate gene tested in,Not yet assessed,"[PMID:20301690, PMID:23382873]",606936,ENSG00000130529,496,Q8TD43,Q8TD43,HGNC:17993 +GARD:0001030,Orphanet,130,ORPHA:130,22,SEMA3A,"[Coll-1, Hsema-I, SEMA1, SemD, Sema III, coll-1, sema III]",semaphorin 3A,gene with protein product,7q21.11,Disease-causing germline mutation(s) in,Assessed,[PMID:30821013],603961,ENSG00000075213,,Q14563,Q14563,HGNC:10723 +GARD:0001030,Orphanet,130,ORPHA:130,22,SCNN1A,"[ENaCalpha, amiloride-sensitive sodium channel subunit alpha]",sodium channel epithelial 1 subunit alpha,gene with protein product,12p13,Disease-causing germline mutation(s) in,Assessed,[PMID:30821013],600228,ENSG00000111319,738,P37088,P37088,HGNC:10599 +GARD:0001030,Orphanet,130,ORPHA:130,22,SCN5A,"[CDCD2, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, long QT syndrome 3]",sodium voltage-gated channel alpha subunit 5,gene with protein product,3p22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301690],600163,ENSG00000183873,582,Q14524,Q14524,HGNC:10593 +GARD:0001030,Orphanet,130,ORPHA:130,22,SCN1B,,sodium voltage-gated channel beta subunit 1,gene with protein product,19q13.11,Candidate gene tested in,Not yet assessed,[PMID:20301690],600235,ENSG00000105711,,Q07699,Q07699,HGNC:10586 +GARD:0001030,Orphanet,130,ORPHA:130,22,HCN4,,hyperpolarization activated cyclic nucleotide gated potassium channel 4,gene with protein product,15q24.1,Candidate gene tested in,Not yet assessed,[PMID:20301690],605206,ENSG00000138622,403,Q9Y3Q4,Q9Y3Q4,HGNC:16882 +GARD:0001030,Orphanet,130,ORPHA:130,22,AKAP9,"[A-kinase anchor protein, 350kDa, A-kinase anchoring protein 450, AKAP120-like protein, AKAP350, AKAP450, AKAP9-BRAF fusion protein, CG-NAP, HYPERION, KIAA0803, LQT11, MU-RMS-40.16A, PPP1R45, PRKA9, YOTIAO, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, protein phosphatase 1, regulatory subunit 45, yotiao]",A-kinase anchoring protein 9,gene with protein product,7q21.2,Candidate gene tested in,Not yet assessed,"[PMID:25016126, PMID:27707468]",604001,ENSG00000127914,,Q99996,Q99996,HGNC:379 +GARD:0001030,Orphanet,130,ORPHA:130,22,CACNA2D1,[lncRNA-N3],calcium voltage-gated channel auxiliary subunit alpha2delta 1,gene with protein product,7q21.11,Candidate gene tested in,Not yet assessed,"[PMID:17224476, PMID:20301690, PMID:20817017]",114204,ENSG00000153956,,P54289,P54289,HGNC:1399 +GARD:0001030,Orphanet,130,ORPHA:130,22,RANGRF,"[HSPC165, HSPC236, MOG1, MOG1 homolog (S. cerevisiae), RANGNRF]",RAN guanine nucleotide release factor,gene with protein product,17p13.1,Candidate gene tested in,Not yet assessed,[PMID:24142675],607954,ENSG00000108961,,Q9HD47,Q9HD47,HGNC:17679 +GARD:0001030,Orphanet,130,ORPHA:130,22,SCN10A,"[Nav1.8, PN3, SNS, hPN3, peripheral nerve sodium channel 3, sensory neuron sodium channel]",sodium voltage-gated channel alpha subunit 10,gene with protein product,3p22.2,Candidate gene tested in,Not yet assessed,"[PMID:24998131, PMID:25691538]",604427,ENSG00000185313,585,Q9Y5Y9,Q9Y5Y9,HGNC:10582 +GARD:0001030,Orphanet,130,ORPHA:130,22,SCN3B,"[HSA243396, SCNB3]",sodium voltage-gated channel beta subunit 3,gene with protein product,11q24.1,Candidate gene tested in,Not yet assessed,[PMID:20301690],608214,ENSG00000166257,,Q9NY72,Q9NY72,HGNC:20665 +GARD:0001030,Orphanet,130,ORPHA:130,22,GPD1L,[KIAA0089],glycerol-3-phosphate dehydrogenase 1 like,gene with protein product,3p22.3,Candidate gene tested in,Not yet assessed,[PMID:20301690],611778,ENSG00000152642,,Q8N335,Q8N335,HGNC:28956 +GARD:0001030,Orphanet,130,ORPHA:130,22,CACNA1C,"[CACH2, CACN2, Cav1.2, LQT8, TS]",calcium voltage-gated channel subunit alpha1 C,gene with protein product,12p13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20301690],114205,ENSG00000151067,529,Q13936,Q13936,HGNC:1390 +GARD:0001030,Orphanet,130,ORPHA:130,22,KCNE5,,potassium voltage-gated channel subfamily E regulatory subunit 5,gene with protein product,Xq23,Candidate gene tested in,Not yet assessed,[PMID:21493962],300328,ENSG00000176076,,Q9UJ90,Q9UJ90,HGNC:6241 +GARD:0001033,Orphanet,47,ORPHA:47,1,BTK,"[ATK, Bruton's tyrosine kinase, PSCTK1, XLA]",Bruton tyrosine kinase,gene with protein product,Xq22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301626],300300,ENSG00000010671,1948,Q06187,Q06187,HGNC:1133 +GARD:0001039,Orphanet,312,ORPHA:312,2,KRT10,"[CK10, K10, cytokeratin 10, epidermolytic hyperkeratosis]",keratin 10,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:1380725, PMID:7512983]",148080,ENSG00000186395,,P13645,P13645,HGNC:6413 +GARD:0001039,Orphanet,312,ORPHA:312,2,KRT1,[KRT1A],keratin 1,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:1380725, PMID:7512983]",139350,ENSG00000167768,,P04264,P04264,HGNC:6412 +GARD:0001044,Orphanet,1306,ORPHA:1306,1,LEMD3,"[MAN antigen 1, MAN1, inner nuclear membrane protein Man1]",LEM domain containing 3,gene with protein product,12q14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:15489854],607844,ENSG00000174106,,Q9Y2U8,Q9Y2U8,HGNC:28887 +GARD:0001049,Orphanet,136,ORPHA:136,1,NOTCH3,[CASIL],notch receptor 3,gene with protein product,19p13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301673],600276,ENSG00000074181,2860,Q9UM47,Q9UM47,HGNC:7883 +GARD:0001051,Orphanet,1310,ORPHA:1310,1,COL1A1,[OI4],collagen type I alpha 1 chain,gene with protein product,17q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:22855962],120150,ENSG00000108821,,P02452,P02452,HGNC:2197 +GARD:0001053,Orphanet,220402,ORPHA:220402,6,CCR6,"[BN-1, CD196, CKR-L3, CMKBR6, DCR2, DRY-6, GPR-CY4, GPR29]",C-C motif chemokine receptor 6,gene with protein product,6q27,Major susceptibility factor in,Assessed,[PMID:23983073],601835,ENSG00000112486,63,P51684,P51684,HGNC:1607 +GARD:0001053,Orphanet,220402,ORPHA:220402,6,KIAA0319L,"[AAV receptor, AAVR, KIAA1837]",KIAA0319 like,gene with protein product,1p34.3,Major susceptibility factor in,Not yet assessed,[PMID:23740937],613535,ENSG00000142687,,Q8IZA0,Q8IZA0,HGNC:30071 +GARD:0001053,Orphanet,220402,ORPHA:220402,6,IRF5,[IRF-5],interferon regulatory factor 5,gene with protein product,7q32.1,Major susceptibility factor in,Assessed,[PMID:23372721],607218,ENSG00000128604,,Q13568,Q13568,HGNC:6120 +GARD:0001053,Orphanet,220402,ORPHA:220402,6,HLA-DRB1,,"major histocompatibility complex, class II, DR beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Not yet assessed,,142857,ENSG00000196126,,P01911,P04229,HGNC:4948 +GARD:0001053,Orphanet,220402,ORPHA:220402,6,CCN2,"[CCN2, IGFBP8]",cellular communication network factor 2,gene with protein product,6q23.2,Major susceptibility factor in,Not yet assessed,,121009,ENSG00000118523,,P29279,P29279,HGNC:2500 +GARD:0001053,Orphanet,220402,ORPHA:220402,6,CAV1,,caveolin 1,gene with protein product,7q31.2,Major susceptibility factor in,Assessed,[PMID:22402147],601047,ENSG00000105974,,Q03135,Q03135,HGNC:1527 +GARD:0001057,Orphanet,267,ORPHA:267,1,CAPN3,"[CANP3, nCL-1, p94]",calpain 3,gene with protein product,15q15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],114240,ENSG00000092529,,P20807,P20807,HGNC:1480 +GARD:0001072,Orphanet,1328,ORPHA:1328,1,TGFB1,"['Diaphyseal dysplasia 1, progressive', CED, Camurati-Engelmann disease, TGFbeta, prepro-transforming growth factor beta-1]",transforming growth factor beta 1,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301335],190180,ENSG00000105329,,P01137,P01137,HGNC:11766 +GARD:0001077,Orphanet,1334,ORPHA:1334,5,IL17RA,"[CD217, CDw217, IL-17RA, hIL-17R]",interleukin 17 receptor A,gene with protein product,22q11.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21350122],605461,ENSG00000177663,1738,Q96F46,Q96F46,HGNC:5985 +GARD:0001077,Orphanet,1334,ORPHA:1334,5,CLEC7A,"[CD369, DECTIN-1, SCARE2, dectin-1, hDectin-1]",C-type lectin domain containing 7A,gene with protein product,12p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:19864674],606264,ENSG00000172243,2927,Q9BXN2,Q9BXN2,HGNC:14558 +GARD:0001077,Orphanet,1334,ORPHA:1334,5,TRAF3IP2,"[ACT1, CIKS, DKFZP586G0522]",TRAF3 interacting protein 2,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,[PMID:24120361],607043,ENSG00000056972,,O43734,O43734,HGNC:1343 +GARD:0001077,Orphanet,1334,ORPHA:1334,5,IL17RC,[IL17-RL],interleukin 17 receptor C,gene with protein product,3p25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25918342],610925,ENSG00000163702,1740,Q8NAC3,Q8NAC3,HGNC:18358 +GARD:0001077,Orphanet,1334,ORPHA:1334,5,IL17F,"[IL-17F, ML-1, ML1]",interleukin 17F,gene with protein product,6p12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21350122],606496,ENSG00000112116,,Q96PD4,Q96PD4,HGNC:16404 +GARD:0001093,Orphanet+OMIM,113900,OMIM:113900,1,SCN5A,"[CDCD2, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, long QT syndrome 3]",sodium voltage-gated channel alpha subunit 5,gene with protein product,3p22.2,The molecular basis of the disorder is known,Unknown,,600163,ENSG00000183873,objectId:582,Q14524,Q14524,HGNC:10593 +GARD:0001096,Orphanet,555877,ORPHA:555877,1,FLNA,"[ABP-280, actin binding protein 280, alpha filamin]",filamin A,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:17190868],300017,ENSG00000196924,,P21333,P21333,HGNC:3754 +GARD:0001100,Orphanet,500,ORPHA:500,3,PTPN11,"[BPTP3, PTP2C, SH-PTP2, SH2 domain-containing protein tyrosine phosphatase 2, SHP-2, SHP2]",protein tyrosine phosphatase non-receptor type 11,gene with protein product,12q24.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301557],176876,ENSG00000179295,,Q06124,Q06124,HGNC:9644 +GARD:0001100,Orphanet,500,ORPHA:500,3,RAF1,"[C-Raf proto-oncogene, serine/threonine kinase, CRAF, Raf-1, c-Raf]","Raf-1 proto-oncogene, serine/threonine kinase",gene with protein product,3p25.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301557],164760,ENSG00000132155,2184,P04049,P04049,HGNC:9829 +GARD:0001100,Orphanet,500,ORPHA:500,3,BRAF,[BRAF1],"B-Raf proto-oncogene, serine/threonine kinase",gene with protein product,7q34,Disease-causing germline mutation(s) in,Assessed,[PMID:20301557],164757,ENSG00000157764,1943,P15056,P15056,HGNC:1097 +GARD:0001104,Orphanet+OMIM,115200,OMIM:115200,1,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,The molecular basis of the disorder is known,Unknown,,150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0001118,Orphanet,293843,ORPHA:293843,3,MASP1,"[C4/C2 activating component of Ra-reactive factor, MAP-1, MASP, MASP-3, Map44, mannose-binding lectin-associated serine protease 1]",MBL associated serine protease 1,gene with protein product,3q27.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21258343],600521,ENSG00000127241,,P48740,P48740,HGNC:6901 +GARD:0001118,Orphanet,293843,ORPHA:293843,3,COLEC10,"[CL-10, CL-L1]",collectin subfamily member 10,gene with protein product,8q24.12,Disease-causing germline mutation(s) in,Assessed,[PMID:28301481],607620,ENSG00000184374,,Q9Y6Z7,R-HSA-8852492,HGNC:2220 +GARD:0001118,Orphanet,293843,ORPHA:293843,3,COLEC11,"[CL-11, CL-K1, Collectin K1, MGC3279]",collectin subfamily member 11,gene with protein product,2p25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21258343],612502,ENSG00000118004,,Q9BWP8,Q9BWP8,HGNC:17213 +GARD:0001119,Orphanet,1359,ORPHA:1359,1,PRKAR1A,"[CNC1, Carney complex type 1]",protein kinase cAMP-dependent type I regulatory subunit alpha,gene with protein product,17q24.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301463],188830,ENSG00000108946,1472,P10644,P10644,HGNC:9388 +GARD:0001120,Orphanet,156,ORPHA:156,1,CPT1A,"[CPT1-L, L-CPT1]",carnitine palmitoyltransferase 1A,gene with protein product,11q13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301700],600528,ENSG00000110090,,P50416,P50416,HGNC:2328 +GARD:0001123,Orphanet,159,ORPHA:159,1,SLC25A20,"[CAC, carnitine-acylcarnitine carrier, carnitine/acylcarnitine translocase]",solute carrier family 25 member 20,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,,613698,ENSG00000178537,1076,O43772,O43772,HGNC:1421 +GARD:0001133,Orphanet,85288,ORPHA:85288,1,SHROOM4,[KIAA1202],shroom family member 4,gene with protein product,Xp11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:16249884],300579,ENSG00000158352,,Q9ULL8,,HGNC:29215 +GARD:0001140,Orphanet,98988,ORPHA:98988,4,CRYBA2,,crystallin beta A2,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:23508780],600836,ENSG00000163499,,P53672,P53672,HGNC:2395 +GARD:0001140,Orphanet,98988,ORPHA:98988,4,CRYGB,,crystallin gamma B,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23288985],123670,ENSG00000182187,,P07316,,HGNC:2409 +GARD:0001140,Orphanet,98988,ORPHA:98988,4,CRYBB3,,crystallin beta B3,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:23508780],123630,ENSG00000100053,,P26998,,HGNC:2400 +GARD:0001140,Orphanet,98988,ORPHA:98988,4,CRYAA,[HSPB4],crystallin alpha A,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22065922],123580,ENSG00000160202,,P02489,,HGNC:2388 +GARD:0001142,Orphanet,1369,ORPHA:1369,3,TKFC,"[DKFZP586B1621, FAD-AMP lyase (cyclizing), NET45]",triokinase and FMN cyclase,gene with protein product,11q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:32004446],615844,ENSG00000149476,,Q3LXA3,Q3LXA3,HGNC:24552 +GARD:0001142,Orphanet,1369,ORPHA:1369,3,AGK,[FLJ10842],acylglycerol kinase,gene with protein product,7q34,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22284826],610345,ENSG00000006530,,Q53H12,Q53H12,HGNC:21869 +GARD:0001142,Orphanet,1369,ORPHA:1369,3,SLC25A4,[T1],solute carrier family 25 member 4,gene with protein product,4q35.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22187496],103220,ENSG00000151729,1062,P12235,P12235,HGNC:10990 +GARD:0001144,Orphanet+OMIM,115700,OMIM:115700,1,CRYGD,,crystallin gamma D,gene with protein product,2q33.3,The molecular basis of the disorder is known,Unknown,,123690,ENSG00000118231,,P07320,,HGNC:2411 +GARD:0001155,Orphanet,1377,ORPHA:1377,8,CRYGC,,crystallin gamma C,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19204787, PMID:22876111]",123680,ENSG00000163254,,P07315,,HGNC:2410 +GARD:0001155,Orphanet,1377,ORPHA:1377,8,CRYGD,,crystallin gamma D,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17724170],123690,ENSG00000118231,,P07320,,HGNC:2411 +GARD:0001155,Orphanet,1377,ORPHA:1377,8,MAF,[c-MAF],MAF bZIP transcription factor,gene with protein product,16q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17982426],177075,ENSG00000178573,,O75444,,HGNC:6776 +GARD:0001155,Orphanet,1377,ORPHA:1377,8,CRYBB1,,crystallin beta B1,gene with protein product,22q12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:16110300, PMID:21972112]",600929,ENSG00000100122,,P53674,P53674,HGNC:2397 +GARD:0001155,Orphanet,1377,ORPHA:1377,8,GJA8,"[CX50, connexin 50]",gap junction protein alpha 8,gene with protein product,1q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:17724170, PMID:20806042]",600897,ENSG00000121634,732,P48165,P48165,HGNC:4281 +GARD:0001155,Orphanet,1377,ORPHA:1377,8,CRYAA,[HSPB4],crystallin alpha A,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:17724170, PMID:21612679, PMID:21686328]",123580,ENSG00000160202,,P02489,,HGNC:2388 +GARD:0001155,Orphanet,1377,ORPHA:1377,8,CRYBA4,,crystallin beta A4,gene with protein product,22q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20577656],123631,ENSG00000196431,,P53673,P53673,HGNC:2396 +GARD:0001155,Orphanet,1377,ORPHA:1377,8,CRYBB2,,crystallin beta B2,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:21402992],123620,ENSG00000244752,,P43320,,HGNC:2398 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,NHS,,NHS actin remodeling regulator,gene with protein product,Xp22.2-p22.13,Candidate gene tested in,Not yet assessed,,300457,ENSG00000188158,,Q6T4R5,,HGNC:7820 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,PGRMC1,[HPR6.6],progesterone receptor membrane component 1,gene with protein product,Xq24,Disease-causing germline mutation(s) in,Assessed,[PMID:33867527],300435,ENSG00000101856,,O00264,O00264,HGNC:16090 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,SIPA1L3,"[KIAA0545, SPAR3, spine-associated RapGAP 3]",signal induced proliferation associated 1 like 3,gene with protein product,19q13.13-q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25804400],616655,ENSG00000105738,,O60292,,HGNC:23801 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,EPHA2,,EPH receptor A2,gene with protein product,1p36.13,Disease-causing germline mutation(s) in,Assessed,[PMID:19306328],176946,ENSG00000142627,1822,P29317,P29317,HGNC:3386 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,LSS,"[OSC, Oxidosqualene-lanosterol cyclase]",lanosterol synthase,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:262003412],600909,ENSG00000160285,2434,P48449,P48449,HGNC:6708 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,GCNT2,"[IGNT, Ii blood group, NAGCT1, ULG3, bA360O19.2, bA421M1.1, unassigned linkage group 3]",glucosaminyl (N-acetyl) transferase 2 (I blood group),gene with protein product,6p24.3-p24.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21761136, PMID:26622071]",600429,ENSG00000111846,,Q8N0V5,,HGNC:4204 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,CRYGB,,crystallin gamma B,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23288985],123670,ENSG00000182187,,P07316,,HGNC:2409 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,AGK,[FLJ10842],acylglycerol kinase,gene with protein product,7q34,Disease-causing germline mutation(s) in,Assessed,"[PMID:22415731, PMID:26622071]",610345,ENSG00000006530,,Q53H12,Q53H12,HGNC:21869 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,GJA8,"[CX50, connexin 50]",gap junction protein alpha 8,gene with protein product,1q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17601931],600897,ENSG00000121634,732,P48165,P48165,HGNC:4281 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,FYCO1,"[FLJ13335, ZFYVE7]",FYVE and coiled-coil domain autophagy adaptor 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:26622071],607182,ENSG00000163820,,Q9BQS8,Q9BQS8,HGNC:14673 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,MIP,"[AQP0, LIM1, MP26, aquaporin 0]",major intrinsic protein of lens fiber,gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17893667],154050,ENSG00000135517,687,P30301,P30301,HGNC:7103 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,LIM2,"[MP17, MP19]",lens intrinsic membrane protein 2,gene with protein product,19q13.41,Disease-causing germline mutation(s) in,Assessed,[PMID:18596884],154045,ENSG00000105370,,P55344,,HGNC:6610 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,CRYAA,[HSPB4],crystallin alpha A,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:16862070],123580,ENSG00000160202,,P02489,,HGNC:2388 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,HSF4,,heat shock transcription factor 4,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15277496, PMID:16876512]",602438,ENSG00000102878,,Q9ULV5,,HGNC:5227 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,LEMD2,"[LEM2, NET25, dJ482C21.1, lamina-associated polypeptide-emerin-MAN1 domain containing 2]",LEM domain nuclear envelope protein 2,gene with protein product,6p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:26788539],616312,ENSG00000161904,,Q8NC56,Q8NC56,HGNC:21244 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,CRYBB2,,crystallin beta B2,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:21031021],123620,ENSG00000244752,,P43320,,HGNC:2398 +GARD:0001159,Orphanet,98994,ORPHA:98994,17,DNMBP,"[ARHGEF36, KIAA1010, Tuba, scaffold protein TUBA]",dynamin binding protein,gene with protein product,10q24.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30290152],611282,ENSG00000107554,,Q6XZF7,Q6XZF7,HGNC:30373 +GARD:0001160,Orphanet,162,ORPHA:162,1,PITX3,,paired like homeodomain 3,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,[PMID:9620774],602669,ENSG00000107859,,O75364,,HGNC:9006 +GARD:0001188,Orphanet,1171,ORPHA:1171,1,ATP1A3,"[sodium pump subunit alpha-3, sodium-potassium ATPase catalytic subunit alpha-3, sodium/potassium-transporting ATPase subunit alpha-3]",ATPase Na+/K+ transporting subunit alpha 3,gene with protein product,19q13.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24468074],182350,ENSG00000105409,835,P13637,P13637,HGNC:801 +GARD:0001191,Orphanet,254886,ORPHA:254886,2,POLG,"[POLG1, POLGA]","DNA polymerase gamma, catalytic subunit",gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:11431686, PMID:20301791]",174763,ENSG00000140521,,P54098,P54098,HGNC:9179 +GARD:0001191,Orphanet,254886,ORPHA:254886,2,TK2,"[SCA31, mitochondrial thymidine kinase]",thymidine kinase 2,gene with protein product,16q21,Disease-causing germline mutation(s) in,Assessed,[PMID:21937588],188250,ENSG00000166548,,O00142,O00142,HGNC:11831 +GARD:0001195,Orphanet,85186,ORPHA:85186,1,POLR3B,"[C128, FLJ10388, RPC2]",RNA polymerase III subunit B,gene with protein product,12q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15672385, PMID:28589944]",614366,ENSG00000013503,,Q9NW08,Q9NW08,HGNC:30348 +GARD:0001199,Orphanet,1170,ORPHA:1170,1,PMPCA,"[Alpha-MPP, KIAA0123, MAS2]","peptidase, mitochondrial processing subunit alpha",gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25808372],613036,ENSG00000165688,,Q10713,Q10713,HGNC:18667 +GARD:0001210,Orphanet,1394,ORPHA:1394,1,TMCO1,"[Ca(2+) load-activated Ca(2+) channel, HP10122]",transmembrane and coiled-coil domains 1,gene with protein product,1q24.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24194475],614123,ENSG00000143183,,Q9UM00,,HGNC:18188 +GARD:0001217,Orphanet,247691,ORPHA:247691,1,TREX1,[DRN3],three prime repair exonuclease 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:17660820, PMID:18583934, PMID:20876473]",606609,ENSG00000213689,,Q9NSU2,Q9NSU2,HGNC:12269 +GARD:0001218,Orphanet,228337,ORPHA:228337,1,CTSD,"[CLN10, ceroid-lipofuscinosis, neuronal 10]",cathepsin D,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:21990111],116840,ENSG00000117984,2345,P07339,P07339,HGNC:2529 +GARD:0001219,Orphanet,228329,ORPHA:228329,1,PPT1,"[CLN1, INCL, ceroid-lipofuscinosis, neuronal 1, infantile]",palmitoyl-protein thioesterase 1,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21990111],600722,ENSG00000131238,,P50897,P50897,HGNC:9325 +GARD:0001220,Orphanet,228366,ORPHA:228366,1,MFSD8,[MGC33302],major facilitator superfamily domain containing 8,gene with protein product,4q28.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21990111],611124,ENSG00000164073,,Q8NHS3,,HGNC:28486 +GARD:0001222,Orphanet,228343,ORPHA:228343,1,DNAJC5,"[DNAJC5A, FLJ00118, FLJ13070]",DnaJ heat shock protein family (Hsp40) member C5,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:21820099, PMID:22235333, PMID:22978711]",611203,ENSG00000101152,,Q9H3Z4,Q9H3Z4,HGNC:16235 +GARD:0001223,Orphanet,228360,ORPHA:228360,1,CLN5,,CLN5 intracellular trafficking protein,gene with protein product,13q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21990111],608102,ENSG00000102805,,O75503,,HGNC:2076 +GARD:0001224,Orphanet,228363,ORPHA:228363,1,CLN6,"[FLJ20561, HsT18960, nclf]",CLN6 transmembrane ER protein,gene with protein product,15q23,Disease-causing germline mutation(s) in,Assessed,[PMID:21990111],606725,ENSG00000128973,,Q9NWW5,Q9NWW5,HGNC:2077 +GARD:0001233,Orphanet,1401,ORPHA:1401,1,RIPK4,"[ANKK2, DIK, PKC-delta-interacting protein kinase, PKK, Protein kinase C-associated kinase, RIP4, protein kinase C-associated kinase]",receptor interacting serine/threonine kinase 4,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:25098893, PMID:28940926]",605706,ENSG00000183421,2192,P57078,P57078,HGNC:496 +GARD:0001237,Orphanet,46627,ORPHA:46627,1,TFAP2B,"[AP-2beta, AP2-B]",transcription factor AP-2 beta,gene with protein product,6p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301285],601601,ENSG00000008196,,Q92481,Q92481,HGNC:11743 +GARD:0001240,Orphanet,101078,ORPHA:101078,1,AIFM1,"[AIF, CMTX4, DFNX5]",apoptosis inducing factor mitochondria associated 1,gene with protein product,Xq26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23217327],300169,ENSG00000156709,,O95831,O95831,HGNC:8768 +GARD:0001245,Orphanet,101081,ORPHA:101081,1,PMP22,"[GAS3, HMSNIA, HNPP, Sp110]",peripheral myelin protein 22,gene with protein product,17p12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301384],601097,ENSG00000109099,,Q01453,Q01453,HGNC:9118 +GARD:0001246,Orphanet,101082,ORPHA:101082,1,MPZ,"[CMT2I, CMT2J, HMSNIB, P0]",myelin protein zero,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301384],159440,ENSG00000158887,,P25189,,HGNC:7225 +GARD:0001247,Orphanet,101083,ORPHA:101083,1,LITAF,"[FLJ38636, PIG7, SIMPLE, TP53I7]",lipopolysaccharide induced TNF factor,gene with protein product,16p13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301384],603795,ENSG00000189067,,Q99732,Q99732,HGNC:16841 +GARD:0001248,Orphanet,99946,ORPHA:99946,1,KIF1B,"[HMSNII, KIAA0591, KLP]",kinesin family member 1B,gene with protein product,1p36.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:11389829, PMID:20301462]",605995,ENSG00000054523,,O60333,O60333,HGNC:16636 +GARD:0001249,Orphanet,101101,ORPHA:101101,2,MED25,"[ACID1, ARC92, DKFZp434K0512, TCBAP0758]",mediator complex subunit 25,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],610197,ENSG00000104973,,Q71SY5,Q71SY5,HGNC:28845 +GARD:0001249,Orphanet,101101,ORPHA:101101,2,PNKP,[PNK],polynucleotide kinase 3'-phosphatase,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:30039206],605610,ENSG00000039650,,Q96T60,Q96T60,HGNC:9154 +GARD:0001250,Orphanet,99937,ORPHA:99937,1,TRPV4,"[CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2, VROAC, osmosensitive transient receptor potential channel 4]",transient receptor potential cation channel subfamily V member 4,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],605427,ENSG00000111199,510,Q9HBA0,Q9HBA0,HGNC:18083 +GARD:0001251,Orphanet,99938,ORPHA:99938,1,GARS1,"[DSMAV, GlyRS, SMAD1, glycine tRNA ligase]",glycyl-tRNA synthetase 1,gene with protein product,7p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],600287,ENSG00000106105,,P41250,P41250,HGNC:4162 +GARD:0001252,Orphanet,99948,ORPHA:99948,1,GDAP1,"[CMT2K, CMT4]",ganglioside induced differentiation associated protein 1,gene with protein product,8q21.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301711],606598,ENSG00000104381,,Q8TB36,,HGNC:15968 +GARD:0001253,Orphanet,99955,ORPHA:99955,1,MTMR2,"[KIAA1073, phosphatidylinositol-3-phosphatase, phosphoinositide-3-phosphatase]",myotubularin related protein 2,gene with protein product,11q21,Disease-causing germline mutation(s) in,Assessed,[PMID:20301641],603557,ENSG00000087053,,Q13614,Q13614,HGNC:7450 +GARD:0001258,Orphanet,101075,ORPHA:101075,1,GJB1,"[CX32, Charcot-Marie-Tooth neuropathy, X-linked, connexin 32]",gap junction protein beta 1,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301548],304040,ENSG00000169562,723,P08034,P08034,HGNC:4283 +GARD:0001280,Orphanet,171,ORPHA:171,4,GPR35,,G protein-coupled receptor 35,gene with protein product,2q37.3,Major susceptibility factor in,Assessed,[PMID:22821403],602646,ENSG00000178623,102,Q9HC97,Q9HC97,HGNC:4492 +GARD:0001280,Orphanet,171,ORPHA:171,4,SEMA4D,,semaphorin 4D,gene with protein product,9q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:33627483],601866,ENSG00000187764,2883,Q92854,,HGNC:10732 +GARD:0001280,Orphanet,171,ORPHA:171,4,MST1,"[MSP, NF15S2]",macrophage stimulating 1,gene with protein product,3p21.31,Major susceptibility factor in,Assessed,[PMID:21151127],142408,ENSG00000173531,,P26927,P26927,HGNC:7380 +GARD:0001280,Orphanet,171,ORPHA:171,4,TCF4,"[E2-2, ITF2, SEF2-1B, SL3-3 enhancer factor 2, bHLHb19, class B basic helix-loop-helix protein 19, immunoglobulin transcription factor 2]",transcription factor 4,gene with protein product,18q21.2,Major susceptibility factor in,Assessed,[PMID:22821403],602272,ENSG00000196628,,P15884,P15884,HGNC:11634 +GARD:0001288,Orphanet,79304,ORPHA:79304,1,ABCB11,"[ABC member 16, MDR/TAP subfamily, ABC16, PFIC-2, PGY4, SPGP]",ATP binding cassette subfamily B member 11,gene with protein product,2q31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:15791618, PMID:9806540]",603201,ENSG00000073734,778,O95342,O95342,HGNC:42 +GARD:0001289,Orphanet,79305,ORPHA:79305,1,ABCB4,"[GBD1, MDR2, PFIC-3]",ATP binding cassette subfamily B member 4,gene with protein product,7q21.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:17726488, PMID:21119540]",171060,ENSG00000005471,771,P21439,P21439,HGNC:45 +GARD:0001292,Orphanet,1416,ORPHA:1416,2,TNFRSF11B,"[OCIF, TR1, osteoclastogenesis inhibitory factor]",TNF receptor superfamily member 11b,gene with protein product,8q24.12,Candidate gene tested in,Not yet assessed,[PMID:29578045],602643,ENSG00000164761,1882,O00300,O00300,HGNC:11909 +GARD:0001292,Orphanet,1416,ORPHA:1416,2,ANKH,"[ANK, CPPDD, HANK, SLC62A1]",ANKH inorganic pyrophosphate transport regulator,gene with protein product,5p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21102543],605145,ENSG00000154122,3046,Q9HCJ1,Q9HCJ1,HGNC:15492 +GARD:0001296,Orphanet,79345,ORPHA:79345,1,ARSL,[chondrodysplasia punctata 1],arylsulfatase L,gene with protein product,Xp22.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20301713],300180,ENSG00000157399,,P51690,P51690,HGNC:719 +GARD:0001300,Orphanet,2098,ORPHA:2098,2,BMPR1B,"[ALK6, CDw293]",bone morphogenetic protein receptor type 1B,gene with protein product,4q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24129431],603248,ENSG00000138696,1789,O00238,O00238,HGNC:1077 +GARD:0001300,Orphanet,2098,ORPHA:2098,2,GDF5,"[BMP14, CDMP1, cartilage-derived morphogenetic protein-1]",growth differentiation factor 5,gene with protein product,20q11.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,,601146,ENSG00000125965,,P43026,P43026,HGNC:4220 +GARD:0001301,Orphanet,289,ORPHA:289,4,EVC2,"[LBN, limbin]",EvC ciliary complex subunit 2,gene with protein product,4p16.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:12468274, PMID:12571802, PMID:22791528, PMID:23220543]",607261,ENSG00000173040,,Q86UK5,Q86UK5,HGNC:19747 +GARD:0001301,Orphanet,289,ORPHA:289,4,EVC,"[DWF-1, EVC1]",EvC ciliary complex subunit 1,gene with protein product,4p16.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:18947413, PMID:19744229, PMID:22791528, PMID:23220543]",604831,ENSG00000072840,,P57679,P57679,HGNC:3497 +GARD:0001301,Orphanet,289,ORPHA:289,4,DYNC2LI1,"[CGI-60, D2LIC, DKFZP564A033, LIC3]",dynein cytoplasmic 2 light intermediate chain 1,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,[PMID:26130459],617083,ENSG00000138036,,Q8TCX1,Q8TCX1,HGNC:24595 +GARD:0001301,Orphanet,289,ORPHA:289,4,GLI1,,GLI family zinc finger 1,gene with protein product,12q13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28973407],165220,ENSG00000111087,,P08151,P08151,HGNC:4317 +GARD:0001303,Orphanet,178,ORPHA:178,1,TBXT,,T-box transcription factor T,gene with protein product,6q27,Major susceptibility factor in,Assessed,"[PMID:19801981, PMID:23064415]",601397,ENSG00000164458,,O15178,,HGNC:11515 +GARD:0001305,Orphanet,1429,ORPHA:1429,2,NKX2-1,"[TTF-1, TTF1]",NK2 homeobox 1,gene with protein product,14q13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:12891678, PMID:16220345, PMID:24555207]",600635,ENSG00000136352,,P43699,P43699,HGNC:11825 +GARD:0001305,Orphanet,1429,ORPHA:1429,2,ADCY5,[AC5],adenylate cyclase 5,gene with protein product,3q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26085604],600293,ENSG00000173175,1282,O95622,O95622,HGNC:236 +GARD:0001356,Orphanet,1451,ORPHA:1451,1,NLRP3,"[AGTAVPRL, AII, AVP, CLR1.1, Cryopyrin, FCAS, FCU, MWS, NALP3, PYPAF1, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3]",NLR family pyrin domain containing 3,gene with protein product,1q44,Disease-causing germline mutation(s) in,Assessed,"[PMID:12032915, PMID:15801036]",606416,ENSG00000162711,1770,Q96P20,Q96P20,HGNC:16400 +GARD:0001369,Orphanet,3329,ORPHA:3329,1,BHLHA9,"[BHLHF42, Fingerin, bHLHa9]",basic helix-loop-helix family member a9,gene with protein product,17p13.3,Major susceptibility factor in,Not yet assessed,,615416,ENSG00000205899,,Q7RTU4,,HGNC:35126 +GARD:0001394,Orphanet,324601,ORPHA:324601,1,TBX22,,T-box transcription factor 22,gene with protein product,Xq21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:11559848, PMID:12374769, PMID:14729838]",300307,ENSG00000122145,,Q9Y458,,HGNC:11600 +GARD:0001402,Orphanet,93274,ORPHA:93274,1,FGFR3,"[CD333, CEK2, JTK4]",fibroblast growth factor receptor 3,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301540],134934,ENSG00000068078,1810,P22607,P22607,HGNC:3690 +GARD:0001410,Orphanet,1454,ORPHA:1454,4,INPP5E,"[CORS1, PPI5PIV, pharbin]",inositol polyphosphate-5-phosphatase E,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19668216, PMID:20301500]",613037,ENSG00000148384,1456,Q9NRR6,Q9NRR6,HGNC:21474 +GARD:0001410,Orphanet,1454,ORPHA:1454,4,RPGRIP1L,"[CORS3, FTM, JBTS7, KIAA1005, MKS5, Meckel syndrome, type 5, NPHP8, PPP1R134, fantom homolog, protein phosphatase 1, regulatory subunit 134]",RPGRIP1 like,gene with protein product,16q12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:19574260, PMID:20301500]",610937,ENSG00000103494,,Q68CZ1,Q68CZ1,HGNC:29168 +GARD:0001410,Orphanet,1454,ORPHA:1454,4,CC2D2A,"[JBTS9, KIAA1345, MKS6, Meckel syndrome, type 6]",coiled-coil and C2 domain containing 2A,gene with protein product,4p15.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:19574260, PMID:20301500]",612013,ENSG00000048342,,Q9P2K1,Q9P2K1,HGNC:29253 +GARD:0001410,Orphanet,1454,ORPHA:1454,4,TMEM67,"[JBTS6, MGC26979, Meckelin, NPHP11]",transmembrane protein 67,gene with protein product,8q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17160906, PMID:19574260, PMID:20301500, PMID:20615230]",609884,ENSG00000164953,,Q5HYA8,Q5HYA8,HGNC:28396 +GARD:0001415,Orphanet,90321,ORPHA:90321,3,ERCC4,"[FANCQ, RAD1, xeroderma pigmentosum, complementation group F]","ERCC excision repair 4, endonuclease catalytic subunit",gene with protein product,16p13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:23623389],133520,ENSG00000175595,,Q92889,Q92889,HGNC:3436 +GARD:0001415,Orphanet,90321,ORPHA:90321,3,ERCC8,[CSA],"ERCC excision repair 8, CSA ubiquitin ligase complex subunit",gene with protein product,5q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301516],609412,ENSG00000049167,,Q13216,Q13216,HGNC:3439 +GARD:0001415,Orphanet,90321,ORPHA:90321,3,ERCC6,"[ARMD5, CSB, Cockayne syndrome B protein, RAD26]","ERCC excision repair 6, chromatin remodeling factor",gene with protein product,10q11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301516],609413,ENSG00000225830,,Q03468,Q03468,HGNC:3438 +GARD:0001417,Orphanet,90324,ORPHA:90324,2,ERCC8,[CSA],"ERCC excision repair 8, CSA ubiquitin ligase complex subunit",gene with protein product,5q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301516],609412,ENSG00000049167,,Q13216,Q13216,HGNC:3439 +GARD:0001417,Orphanet,90324,ORPHA:90324,2,ERCC6,"[ARMD5, CSB, Cockayne syndrome B protein, RAD26]","ERCC excision repair 6, chromatin remodeling factor",gene with protein product,10q11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301516],609413,ENSG00000225830,,Q03468,Q03468,HGNC:3438 +GARD:0001418,Orphanet,1458,ORPHA:1458,1,LONP1,"[LonHS, PIM1, hLON]","lon peptidase 1, mitochondrial",gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25574826],605490,ENSG00000196365,3180,P36776,,HGNC:9479 +GARD:0001420,Orphanet,90322,ORPHA:90322,3,ERCC8,[CSA],"ERCC excision repair 8, CSA ubiquitin ligase complex subunit",gene with protein product,5q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301516],609412,ENSG00000049167,,Q13216,Q13216,HGNC:3439 +GARD:0001420,Orphanet,90322,ORPHA:90322,3,ERCC6,"[ARMD5, CSB, Cockayne syndrome B protein, RAD26]","ERCC excision repair 6, chromatin remodeling factor",gene with protein product,10q11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301516],609413,ENSG00000225830,,Q03468,Q03468,HGNC:3438 +GARD:0001420,Orphanet,90322,ORPHA:90322,3,ERCC1,[RAD10],"ERCC excision repair 1, endonuclease non-catalytic subunit",gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:23623389],126380,ENSG00000012061,,P07992,P07992,HGNC:3433 +GARD:0001425,Orphanet,2050,ORPHA:2050,2,SEC24D,[KIAA0755],"SEC24 homolog D, COPII coat complex component",gene with protein product,4q26,Disease-causing germline mutation(s) in,Assessed,[PMID:25683121],607186,ENSG00000150961,,O94855,O94855,HGNC:10706 +GARD:0001425,Orphanet,2050,ORPHA:2050,2,P4HB,"[DSI, GIT, P4Hbeta, PDI, PDIA1, PO4HB, PROHB, collagen prolyl 4-hydroxylase beta, protein disulfide isomerase family A, member 1, protein disulfide isomerase-associated 1]",prolyl 4-hydroxylase subunit beta,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25683117],176790,ENSG00000185624,,P07237,P07237,HGNC:8548 +GARD:0001433,Orphanet,98943,ORPHA:98943,4,PAX6,"[AN, Aniridia 1, Aniridia 2, D11S812E, WAGR, aniridia, keratitis]",paired box 6,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:12721955, PMID:16604056]",607108,ENSG00000007372,,P26367,P26367,HGNC:8620 +GARD:0001433,Orphanet,98943,ORPHA:98943,4,SALL2,"[Hsal2, KIAA0360, ZNF795]",spalt like transcription factor 2,gene with protein product,14q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24412933],602219,ENSG00000165821,,Q9Y467,Q9Y467,HGNC:10526 +GARD:0001433,Orphanet,98943,ORPHA:98943,4,FZD5,"[DKFZP434E2135, HFZ5]",frizzled class receptor 5,gene with protein product,2q33.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26908622],601723,ENSG00000163251,233,Q13467,Q13467,HGNC:4043 +GARD:0001433,Orphanet,98943,ORPHA:98943,4,ABCB6,"[ATP-binding cassette half-transporter, EST45597, MTABC3, umat]",ATP binding cassette subfamily B member 6 (Langereis blood group),gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:22226084],605452,ENSG00000115657,773,Q9NP58,Q9NP58,HGNC:47 +GARD:0001434,Orphanet,98944,ORPHA:98944,5,PAX6,"[AN, Aniridia 1, Aniridia 2, D11S812E, WAGR, aniridia, keratitis]",paired box 6,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:12721955, PMID:16604056]",607108,ENSG00000007372,,P26367,P26367,HGNC:8620 +GARD:0001434,Orphanet,98944,ORPHA:98944,5,ACTG1,,actin gamma 1,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28493397],102560,ENSG00000184009,,P63261,P63261,HGNC:144 +GARD:0001434,Orphanet,98944,ORPHA:98944,5,SALL2,"[Hsal2, KIAA0360, ZNF795]",spalt like transcription factor 2,gene with protein product,14q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24412933],602219,ENSG00000165821,,Q9Y467,Q9Y467,HGNC:10526 +GARD:0001434,Orphanet,98944,ORPHA:98944,5,FZD5,"[DKFZP434E2135, HFZ5]",frizzled class receptor 5,gene with protein product,2q33.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26908622],601723,ENSG00000163251,233,Q13467,Q13467,HGNC:4043 +GARD:0001434,Orphanet,98944,ORPHA:98944,5,ABCB6,"[ATP-binding cassette half-transporter, EST45597, MTABC3, umat]",ATP binding cassette subfamily B member 6 (Langereis blood group),gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:22226084],605452,ENSG00000115657,773,Q9NP58,Q9NP58,HGNC:47 +GARD:0001436,Orphanet,98945,ORPHA:98945,4,PAX6,"[AN, Aniridia 1, Aniridia 2, D11S812E, WAGR, aniridia, keratitis]",paired box 6,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:12721955, PMID:16604056]",607108,ENSG00000007372,,P26367,P26367,HGNC:8620 +GARD:0001436,Orphanet,98945,ORPHA:98945,4,SALL2,"[Hsal2, KIAA0360, ZNF795]",spalt like transcription factor 2,gene with protein product,14q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24412933],602219,ENSG00000165821,,Q9Y467,Q9Y467,HGNC:10526 +GARD:0001436,Orphanet,98945,ORPHA:98945,4,FZD5,"[DKFZP434E2135, HFZ5]",frizzled class receptor 5,gene with protein product,2q33.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26908622],601723,ENSG00000163251,233,Q13467,Q13467,HGNC:4043 +GARD:0001436,Orphanet,98945,ORPHA:98945,4,ABCB6,"[ATP-binding cassette half-transporter, EST45597, MTABC3, umat]",ATP binding cassette subfamily B member 6 (Langereis blood group),gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:22226084],605452,ENSG00000115657,773,Q9NP58,Q9NP58,HGNC:47 +GARD:0001438,Orphanet,98947,ORPHA:98947,4,PAX6,"[AN, Aniridia 1, Aniridia 2, D11S812E, WAGR, aniridia, keratitis]",paired box 6,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:12721955, PMID:16604056]",607108,ENSG00000007372,,P26367,P26367,HGNC:8620 +GARD:0001438,Orphanet,98947,ORPHA:98947,4,SALL2,"[Hsal2, KIAA0360, ZNF795]",spalt like transcription factor 2,gene with protein product,14q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24412933],602219,ENSG00000165821,,Q9Y467,Q9Y467,HGNC:10526 +GARD:0001438,Orphanet,98947,ORPHA:98947,4,FZD5,"[DKFZP434E2135, HFZ5]",frizzled class receptor 5,gene with protein product,2q33.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26908622],601723,ENSG00000163251,233,Q13467,Q13467,HGNC:4043 +GARD:0001438,Orphanet,98947,ORPHA:98947,4,ABCB6,"[ATP-binding cassette half-transporter, EST45597, MTABC3, umat]",ATP binding cassette subfamily B member 6 (Langereis blood group),gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:22226084],605452,ENSG00000115657,773,Q9NP58,Q9NP58,HGNC:47 +GARD:0001440,Orphanet,1473,ORPHA:1473,1,YAP1,[YAP65],Yes1 associated transcriptional regulator,gene with protein product,11q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24462371],606608,ENSG00000137693,,P46937,P46937,HGNC:16262 +GARD:0001443,Orphanet,77298,ORPHA:77298,1,SOX2,,SRY-box transcription factor 2,gene with protein product,3q26.33,Disease-causing germline mutation(s) in,Assessed,[PMID:24033328],184429,ENSG00000181449,,P48431,P48431,HGNC:11195 +GARD:0001452,Orphanet+OMIM,217000,OMIM:217000,1,C2,,complement C2,gene with protein product,6p21.33,The molecular basis of the disorder is known,Unknown,,613927,ENSG00000166278,,P06681,P06681,HGNC:1248 +GARD:0001462,Orphanet+OMIM,300085,OMIM:300085,1,COD2,,"Cone dystrophy-2, X-linked",unknown,Xq27,The disease phenotype itself was mapped,Unknown,,300085,,,,,GeneID:1275 +GARD:0001463,Orphanet,1873,ORPHA:1873,1,CNNM4,[KIAA1592],cyclin and CBS domain divalent metal cation transport mediator 4,gene with protein product,2q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19200525, PMID:24194943]",607805,ENSG00000158158,,Q6P4Q7,Q6P4Q7,HGNC:105 +GARD:0001469,Orphanet,90793,ORPHA:90793,1,CYP17A1,"[CPT7, P450C17, S17AH, Steroid 17-alpha-monooxygenase]",cytochrome P450 family 17 subfamily A member 1,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,,609300,ENSG00000148795,1361,P05093,P05093,HGNC:2593 +GARD:0001474,Orphanet,1216,ORPHA:1216,1,TRPV4,"[CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2, VROAC, osmosensitive transient receptor potential channel 4]",transient receptor potential cation channel subfamily V member 4,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:22526352, PMID:24830047]",605427,ENSG00000111199,510,Q9HBA0,Q9HBA0,HGNC:18083 +GARD:0001481,Orphanet,2140,ORPHA:2140,3,LONP1,"[LonHS, PIM1, hLON]","lon peptidase 1, mitochondrial",gene with protein product,19p13.2,Major susceptibility factor in,Assessed,[PMID:34547244],605490,ENSG00000196365,3180,P36776,,HGNC:9479 +GARD:0001481,Orphanet,2140,ORPHA:2140,3,GATA6,,GATA binding protein 6,gene with protein product,18q11.2,Major susceptibility factor in,Assessed,[PMID:24385578],601656,ENSG00000141448,,Q92908,Q92908,HGNC:4174 +GARD:0001481,Orphanet,2140,ORPHA:2140,3,ZFPM2,"[FOG2, ZC2HC11B, ZNF89B, hFOG-2]","zinc finger protein, FOG family member 2",gene with protein product,8q23,Major susceptibility factor in,Assessed,[PMID:21525063],603693,ENSG00000169946,,Q8WW38,Q8WW38,HGNC:16700 +GARD:0001493,Orphanet,2665,ORPHA:2665,2,NTRK3,[TRKC],neurotrophic receptor tyrosine kinase 3,gene with protein product,15q25.3,Part of a fusion gene in,Assessed,"[PMID:12165445, PMID:16681692]",191316,ENSG00000140538,1819,Q16288,Q16288,HGNC:8033 +GARD:0001493,Orphanet,2665,ORPHA:2665,2,ETV6,"[TEL, TEL oncogene]",ETS variant transcription factor 6,gene with protein product,12p13.2,Part of a fusion gene in,Assessed,"[PMID:12165445, PMID:16681692]",600618,ENSG00000139083,,P41212,P41212,HGNC:3495 +GARD:0001500,Orphanet,839,ORPHA:839,1,NPHS1,"[CNF, NPHN]","NPHS1 adhesion molecule, nephrin",gene with protein product,19q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:9660941],602716,ENSG00000161270,,O60500,O60500,HGNC:7908 +GARD:0001512,Orphanet,972,ORPHA:972,1,KCNA1,"[HUK1, Kv1.1, MBK1, RBK1]",potassium voltage-gated channel subfamily A member 1,gene with protein product,12p13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:17136396],176260,ENSG00000111262,538,Q09470,Q09470,HGNC:6218 +GARD:0001513,Orphanet,725,ORPHA:725,2,GRIN2A,[GluN2A],glutamate ionotropic receptor NMDA type subunit 2A,gene with protein product,16p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:23933818, PMID:23933819, PMID:23933820]",138253,ENSG00000183454,456,Q12879,Q12879,HGNC:4585 +GARD:0001513,Orphanet,725,ORPHA:725,2,FRRS1L,[CG-6],ferric chelate reductase 1 like,gene with protein product,9q31.3,Candidate gene tested in,Assessed,[PMID:27239025],604574,ENSG00000260230,,Q9P0K9,,HGNC:1362 +GARD:0001516,Orphanet,1662,ORPHA:1662,2,ZMPSTE24,"[CAAX prenyl protease 1 homolog, FACE-1, HGPS, Hutchinson-Gilford progeria syndrome, PRO1, STE24, Ste24p]",zinc metallopeptidase STE24,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:18470519, PMID:19020898]",606480,ENSG00000084073,,O75844,O75844,HGNC:12877 +GARD:0001516,Orphanet,1662,ORPHA:1662,2,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:18470519, PMID:19020898]",150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0001518,Orphanet,140927,ORPHA:140927,2,KCNQ2,"[BFNC, ENB1, HNSPC, KCNA11, Kv7.2]",potassium voltage-gated channel subfamily Q member 2,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23360469],602235,ENSG00000075043,561,O43526,O43526,HGNC:6296 +GARD:0001518,Orphanet,140927,ORPHA:140927,2,SCN2A,"[HBSCI, HBSCII, Nav1.2]",sodium voltage-gated channel alpha subunit 2,gene with protein product,2q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12243921],182390,ENSG00000136531,579,Q99250,Q99250,HGNC:10588 +GARD:0001519,Orphanet,1949,ORPHA:1949,2,KCNQ3,[Kv7.3],potassium voltage-gated channel subfamily Q member 3,gene with protein product,8q24.22,Disease-causing germline mutation(s) in,Assessed,"[PMID:24375629, PMID:24851285]",602232,ENSG00000184156,562,O43525,O43525,HGNC:6297 +GARD:0001519,Orphanet,1949,ORPHA:1949,2,KCNQ2,"[BFNC, ENB1, HNSPC, KCNA11, Kv7.2]",potassium voltage-gated channel subfamily Q member 2,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:20437616, PMID:24375629]",602235,ENSG00000075043,561,O43526,O43526,HGNC:6296 +GARD:0001521,Orphanet,565,ORPHA:565,1,ATP7A,"[copper pump 1, copper-transporting ATPase 1]",ATPase copper transporting alpha,gene with protein product,Xq21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301586],300011,ENSG00000165240,852,Q04656,Q04656,HGNC:869 +GARD:0001529,Orphanet,1490,ORPHA:1490,1,SLC4A11,"[BTR1, FECD4, NaBC1, dJ794I6.2]",solute carrier family 4 member 11,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:17220209, PMID:18922146]",610206,ENSG00000088836,913,Q8NBS3,,HGNC:16438 +GARD:0001537,Orphanet,1496,ORPHA:1496,1,SLC12A6,,solute carrier family 12 member 6,gene with protein product,15q14,Disease-causing germline mutation(s) in,Assessed,[PMID:20301546],604878,ENSG00000140199,973,Q9UHW9,Q9UHW9,HGNC:10914 +GARD:0001550,Orphanet,3071,ORPHA:3071,1,HRAS,,"HRas proto-oncogene, GTPase",gene with protein product,11p15.5,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301680],190020,ENSG00000174775,2822,P01112,P01112,HGNC:5173 +GARD:0001555,Orphanet,93333,ORPHA:93333,1,TBX15,,T-box transcription factor 15,gene with protein product,1p12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19068278, PMID:24039145]",604127,ENSG00000092607,,Q96SF7,Q96SF7,HGNC:11594 +GARD:0001564,Orphanet,1525,ORPHA:1525,1,HPGD,"[15-hydroxyprostaglandin dehydrogenase (NAD(+)), SDR36C1, short chain dehydrogenase/reductase family 36C, member 1]",15-hydroxyprostaglandin dehydrogenase,gene with protein product,4q34.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18500342, PMID:21438135]",601688,ENSG00000164120,1384,P15428,P15428,HGNC:5154 +GARD:0001567,Orphanet,1513,ORPHA:1513,1,SOST,"[DAND6, VBCH]",sclerostin,gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:21221996],605740,ENSG00000167941,,Q9BQB4,Q9BQB4,HGNC:13771 +GARD:0001571,Orphanet,1529,ORPHA:1529,1,PAX3,[HUP2],paired box 3,gene with protein product,2q36.1,Disease-causing germline mutation(s) in,Assessed,[PMID:8664898],606597,ENSG00000135903,,P23760,P23760,HGNC:8617 +GARD:0001578,Orphanet,1520,ORPHA:1520,1,EFNB1,"[EPH-related receptor tyrosine kinase ligand 2, Elk-L, LERK2]",ephrin B1,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15124102, PMID:15166289, PMID:15959873]",300035,ENSG00000090776,,P98172,P98172,HGNC:3226 +GARD:0001581,Orphanet+OMIM,123000,OMIM:123000,1,ANKH,"[ANK, CPPDD, HANK, SLC62A1]",ANKH inorganic pyrophosphate transport regulator,gene with protein product,5p15.2,The molecular basis of the disorder is known,Unknown,,605145,ENSG00000154122,objectId:3046,Q9HCJ1,Q9HCJ1,HGNC:15492 +GARD:0001582,Orphanet+OMIM,218400,OMIM:218400,1,GJA1,"[CX43, ODD, ODOD, SDTY3, connexin 43, oculodentodigital dysplasia (syndactyly type III)]",gap junction protein alpha 1,gene with protein product,6q22.31,The molecular basis of the disorder is known,Unknown,,121014,ENSG00000152661,objectId:728,P17302,P17302,HGNC:4274 +GARD:0001602,Orphanet,1225,ORPHA:1225,1,RECQL4,[RecQ4],RecQ like helicase 4,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15964893, PMID:20301383]",603780,ENSG00000160957,,O94761,,HGNC:9949 +GARD:0001608,Orphanet,52503,ORPHA:52503,1,SLC6A8,"[CRTR, CT1, creatine transporter]",solute carrier family 6 member 8,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301745],300036,ENSG00000130821,934,P48029,P48029,HGNC:11055 +GARD:0001611,Orphanet,1545,ORPHA:1545,2,CLCF1,"[B-cell stimulating factor 3, BSF-3, BSF3, CISS2, CLC, NNT-1, NNT1, NR6, cold-induced sweating syndrome 2, novel neurotrophin-1]",cardiotrophin like cytokine factor 1,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20400119, PMID:21370513]",607672,ENSG00000175505,,Q9UBD9,Q9UBD9,HGNC:17412 +GARD:0001611,Orphanet,1545,ORPHA:1545,2,CRLF1,"[CISS, CISS1, CLF, CLF-1, cold-induced sweating syndrome]",cytokine receptor like factor 1,gene with protein product,19p12,Disease-causing germline mutation(s) in,Assessed,"[PMID:17436252, PMID:21370513]",604237,ENSG00000006016,,O75462,O75462,HGNC:2364 +GARD:0001613,Orphanet,891,ORPHA:891,6,ZNF408,[FLJ12827],zinc finger protein 408,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23716659],616454,ENSG00000175213,,Q9H9D4,Q9H9D4,HGNC:20041 +GARD:0001613,Orphanet,891,ORPHA:891,6,LRP5,"[BMND1, EVR4, HBM, LR3, OPS, OPTA1, VBCH2]",LDL receptor related protein 5,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301326],603506,ENSG00000162337,,O75197,O75197,HGNC:6697 +GARD:0001613,Orphanet,891,ORPHA:891,6,FZD4,[CD344],frizzled class receptor 4,gene with protein product,11q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301326],604579,ENSG00000174804,232,Q9ULV1,Q9ULV1,HGNC:4042 +GARD:0001613,Orphanet,891,ORPHA:891,6,NDP,[norrin],norrin cystine knot growth factor NDP,gene with protein product,Xp11.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301506],300658,ENSG00000124479,,Q00604,Q00604,HGNC:7678 +GARD:0001613,Orphanet,891,ORPHA:891,6,TSPAN12,[NET-2],tetraspanin 12,gene with protein product,7q31.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301326],613138,ENSG00000106025,,O95859,,HGNC:21641 +GARD:0001613,Orphanet,891,ORPHA:891,6,CTNNB1,"[armadillo, beta-catenin]",catenin beta 1,gene with protein product,3p22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28575650],116806,ENSG00000168036,,P35222,P35222,HGNC:2514 +GARD:0001626,Orphanet,1552,ORPHA:1552,1,MNX1,"[HB9, HOXHB9, SCRA1]",motor neuron and pancreas homeobox 1,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:22820079, PMID:23370340]",142994,ENSG00000130675,,P50219,,HGNC:4979 +GARD:0001639,Orphanet,90348,ORPHA:90348,3,ALDH18A1,"[P5CS, delta-1-pyrroline-5-carboxylate synthase]",aldehyde dehydrogenase 18 family member A1,gene with protein product,10q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26320891],138250,ENSG00000059573,,P54886,P54886,HGNC:9722 +GARD:0001639,Orphanet,90348,ORPHA:90348,3,FBLN5,"[ARMD3, DANCE, EVEC, UP50, developmental arteries and neural crest EGF-like, embryonic vascular EGF-like repeat-containing protein]",fibulin 5,gene with protein product,14q32.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:12618961, PMID:20301756]",604580,ENSG00000140092,,Q9UBX5,Q9UBX5,HGNC:3602 +GARD:0001639,Orphanet,90348,ORPHA:90348,3,ELN,"[SVAS, WBS, WS, Williams-Beuren syndrome, supravalvular aortic stenosis, tropoelastin]",elastin,gene with protein product,7q11.23,Disease-causing germline mutation(s) in,Assessed,"[PMID:16085695, PMID:18348261]",130160,ENSG00000049540,,P15502,P15502,HGNC:3327 +GARD:0001641,Orphanet,357064,ORPHA:357064,1,PYCR1,[P5C],pyrroline-5-carboxylate reductase 1,gene with protein product,17q25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19576563],179035,ENSG00000183010,,P32322,P32322,HGNC:9721 +GARD:0001654,Orphanet,229,ORPHA:229,1,MYH11,"[SMHC, SMMHC]",myosin heavy chain 11,gene with protein product,16p13.11,Candidate gene tested in,Not yet assessed,,160745,ENSG00000133392,,P35749,P35749,HGNC:7569 +GARD:0001685,Orphanet,79500,ORPHA:79500,2,TBC1D24,"[DFNA65, KIAA1171, TBC/LysM-associated domain containing 6, TLDC6, skywalker homolog (Drosophila)]",TBC1 domain family member 24,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24291220],613577,ENSG00000162065,,Q9ULP9,Q9ULP9,HGNC:29203 +GARD:0001685,Orphanet,79500,ORPHA:79500,2,ATP6V1B2,"[HO57, V-ATPase subunit B2, VATB, Vma2]",ATPase H+ transporting V1 subunit B2,gene with protein product,8p21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:32873933],606939,ENSG00000147416,812,P21281,P21281,HGNC:854 +GARD:0001687,Orphanet,3220,ORPHA:3220,2,PEX1,,peroxisomal biogenesis factor 1,gene with protein product,7q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26387595],602136,ENSG00000127980,,O43933,,HGNC:8850 +GARD:0001687,Orphanet,3220,ORPHA:3220,2,PEX6,"[PAF-2, PXAAA1]",peroxisomal biogenesis factor 6,gene with protein product,6p21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26387595],601498,ENSG00000124587,,Q13608,,HGNC:8859 +GARD:0001696,Orphanet,231679,ORPHA:231679,2,POU1F1,"[GHF-1, PIT-1, POU1F1a, growth hormone factor 1, pituitary transcript factor 1]",POU class 1 homeobox 1,gene with protein product,3p11.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26612202],173110,ENSG00000064835,,P28069,,HGNC:9210 +GARD:0001696,Orphanet,231679,ORPHA:231679,2,GH1,"[GH, GH-N, GHN, hGH-N, pituitary growth hormone, somatotropin]",growth hormone 1,gene with protein product,17q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19762173, PMID:22139958]",139250,ENSG00000259384,,P01241,P01241,HGNC:4261 +GARD:0001697,Orphanet+OMIM,220290,OMIM:220290,3,GJB6,"[CX30, EDH, HED, connexin 30]",gap junction protein beta 6,gene with protein product,13q12.11,The molecular basis of the disorder is known,Unknown,,604418,ENSG00000121742,objectId:717,O95452,O95452,HGNC:4288 +GARD:0001697,Orphanet+OMIM,220290,OMIM:220290,3,GJB3,"[CX31, connexin 31]",gap junction protein beta 3,gene with protein product,1p34.3,The molecular basis of the disorder is known,Unknown,,603324,ENSG00000188910,objectId:720,O75712,O75712,HGNC:4285 +GARD:0001697,Orphanet+OMIM,220290,OMIM:220290,3,GJB2,"[CX26, NSRD1, connexin 26]",gap junction protein beta 2,gene with protein product,13q12.11,The molecular basis of the disorder is known,Unknown,,121011,ENSG00000165474,objectId:716,P29033,P29033,HGNC:4284 +GARD:0001708,Orphanet+OMIM,605192,OMIM:605192,1,SIX1,,SIX homeobox 1,gene with protein product,14q23.1,The molecular basis of the disorder is known,Unknown,,601205,ENSG00000126778,,Q15475,,HGNC:10887 +GARD:0001804,Orphanet,93622,ORPHA:93622,1,CLCN5,"[CLC5, ClC-5, DENTS, Dent disease, XLRH, XRN, hCIC-K2, hClC-K2]",chloride voltage-gated channel 5,gene with protein product,Xp11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:18540256, PMID:21305656, PMID:22876375]",300008,ENSG00000171365,704,P51795,P51795,HGNC:2023 +GARD:0001806,Orphanet,99791,ORPHA:99791,1,DSPP,[DMP3],dentin sialophosphoprotein,gene with protein product,4q22.1,Disease-causing germline mutation(s) in,Assessed,,125485,ENSG00000152591,,Q9NZW4,Q9NZW4,HGNC:3054 +GARD:0001807,Orphanet,99789,ORPHA:99789,3,DSPP,[DMP3],dentin sialophosphoprotein,gene with protein product,4q22.1,Disease-causing germline mutation(s) in,Assessed,,125485,ENSG00000152591,,Q9NZW4,Q9NZW4,HGNC:3054 +GARD:0001807,Orphanet,99789,ORPHA:99789,3,VPS4B,"[SKD1B, VPS4-2]",vacuolar protein sorting 4 homolog B,gene with protein product,18q21.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27247351],609983,ENSG00000119541,,O75351,O75351,HGNC:10895 +GARD:0001807,Orphanet,99789,ORPHA:99789,3,SSUH2,"[fls485, ssu-2]",ssu-2 homolog,gene with protein product,3p25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27680507],617479,ENSG00000125046,,Q9Y2M2,,HGNC:24809 +GARD:0001818,Orphanet,1425,ORPHA:1425,2,CANT1,"[SCAN-1, SHAPY, Soluble Ca-Activated Nucleotidase, isozyme 1, apyrase 1 homolog (C. lectularius)]",calcium activated nucleotidase 1,gene with protein product,17q25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22539336],613165,ENSG00000171302,,Q8WVQ1,Q8WVQ1,HGNC:19721 +GARD:0001818,Orphanet,1425,ORPHA:1425,2,XYLT1,"[PXYLT1, XT-I, protein xylosyltransferase 1]",xylosyltransferase 1,gene with protein product,16p12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24581741],608124,ENSG00000103489,,Q86Y38,Q86Y38,HGNC:15516 +GARD:0001820,Orphanet,873,ORPHA:873,2,APC,"[DP2, DP2.5, DP3, PPP1R46, protein phosphatase 1, regulatory subunit 46]",APC regulator of WNT signaling pathway,gene with protein product,5q22.2,Disease-causing somatic mutation(s) in,Assessed,,611731,ENSG00000134982,,P25054,P25054,HGNC:583 +GARD:0001820,Orphanet,873,ORPHA:873,2,CTNNB1,"[armadillo, beta-catenin]",catenin beta 1,gene with protein product,3p22.1,Disease-causing somatic mutation(s) in,Assessed,,116806,ENSG00000168036,,P35222,P35222,HGNC:2514 +GARD:0001839,Orphanet,99886,ORPHA:99886,5,ABCC8,"[ABC36, HHF1, HI, MRP8, PHHI, SUR1, TNDM2, sulfonylurea receptor (hyperinsulinemia)]",ATP binding cassette subfamily C member 8,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:21738553, PMID:21844708, PMID:22498247]",600509,ENSG00000006071,2594,Q09428,Q09428,HGNC:59 +GARD:0001839,Orphanet,99886,ORPHA:99886,5,HYMAI,"[NCRNA00020, non-protein coding RNA 20]",hydatidiform mole associated and imprinted,Non-coding RNA,6q24.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301706, PMID:20803656, PMID:21844708]",606546,ENSG00000283122,,,,HGNC:5326 +GARD:0001839,Orphanet,99886,ORPHA:99886,5,KCNJ11,"[ATP-sensitive inward rectifier potassium channel 11, BIR, Kir6.2, beta-cell inward rectifier]",potassium inwardly rectifying channel subfamily J member 11,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:21352428, PMID:21844708, PMID:22498247]",600937,ENSG00000187486,442,Q14654,Q14654,HGNC:6257 +GARD:0001839,Orphanet,99886,ORPHA:99886,5,PLAGL1,"[LOT1, ZAC]",PLAG1 like zinc finger 1,gene with protein product,6q24.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301706, PMID:20803656, PMID:21844708]",603044,ENSG00000118495,,Q9UM63,Q9UM63,HGNC:9046 +GARD:0001839,Orphanet,99886,ORPHA:99886,5,ZFP57,"[ZNF698, bA145L22, bA145L22.2]",ZFP57 zinc finger protein,gene with protein product,6p22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301706, PMID:22498247, PMID:23150280, PMID:23499433]",612192,ENSG00000204644,,Q9NU63,,HGNC:18791 +GARD:0001850,Orphanet,37042,ORPHA:37042,1,FOXP3,"[AIID, DIETER, JM2, PIDX, SCURFIN, XPID]",forkhead box P3,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:11137993],300292,ENSG00000049768,,Q9BZS1,Q9BZS1,HGNC:6106 +GARD:0001855,Orphanet,2195,ORPHA:2195,1,SLC1A1,"[EAAC1, EAAT3]",solute carrier family 1 member 1,gene with protein product,9p24.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21123949],133550,ENSG00000106688,870,P43005,P43005,HGNC:10939 +GARD:0001862,Orphanet,2337,ORPHA:2337,1,AQP5,,aquaporin 5,gene with protein product,12q13.12,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23830519],600442,ENSG00000161798,692,P55064,P55064,HGNC:638 +GARD:0001874,Orphanet,714,ORPHA:714,1,BPGM,,bisphosphoglycerate mutase,gene with protein product,7q33,Disease-causing germline mutation(s) in,Assessed,[PMID:15054810],613896,ENSG00000172331,,P07738,P07738,HGNC:1093 +GARD:0001886,Orphanet,98912,ORPHA:98912,1,LDB3,"[KIAA0613, PDLIM6, Z-band alternatively spliced PDZ motif protein, ZASP, cypher, oracle]",LIM domain binding 3,gene with protein product,10q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20809097],605906,ENSG00000122367,,O75112,,HGNC:15710 +GARD:0001887,Orphanet,600,ORPHA:600,1,MATR3,"[KIAA0723, MGC9105, VCPDM]",matrin 3,gene with protein product,5q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:19344878],164015,ENSG00000015479,,P43243,P43243,HGNC:6912 +GARD:0001899,Orphanet,2143,ORPHA:2143,1,LRP2,"[DBS, Megalin, gp330, megalin]",LDL receptor related protein 2,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301732],600073,ENSG00000081479,,P98164,P98164,HGNC:6694 +GARD:0001902,Orphanet,101150,ORPHA:101150,2,TSPOAP1,"[KIAA0612, PRAX-1, RIM-BP1, RIMBP1]",TSPO associated protein 1,gene with protein product,17q22,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:33539324],610764,ENSG00000005379,,O95153,,HGNC:16831 +GARD:0001902,Orphanet,101150,ORPHA:101150,2,TH,"[DYT5b, tyrosine 3-monooxygenase]",tyrosine hydroxylase,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,,191290,ENSG00000180176,1243,P07101,P07101,HGNC:11782 +GARD:0001903,Orphanet,230,ORPHA:230,1,DBH,"[DBM, dopamine beta-monooxygenase]",dopamine beta-hydroxylase,gene with protein product,9q34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301647],609312,ENSG00000123454,2486,P09172,P09172,HGNC:2689 +GARD:0001904,Orphanet,99796,ORPHA:99796,3,DCX,"[DBCN, DC, LISX, SCLH, XLIS, doublecortex]",doublecortin,gene with protein product,Xq23,Disease-causing germline mutation(s) in,Assessed,,300121,ENSG00000077279,,O43602,O43602,HGNC:2714 +GARD:0001904,Orphanet,99796,ORPHA:99796,3,EML1,"[ELP79, EMAP, HuEMAP]",EMAP like 1,gene with protein product,14q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24859200],602033,ENSG00000066629,,O00423,O00423,HGNC:3330 +GARD:0001904,Orphanet,99796,ORPHA:99796,3,PAFAH1B1,"[LIS1, NudF, PAFAH, lissencephaly-1]",platelet activating factor acetylhydrolase 1b regulatory subunit 1,gene with protein product,17p13.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:20301752],601545,ENSG00000007168,,P43034,P43034,HGNC:8574 +GARD:0001912,Orphanet,75376,ORPHA:75376,3,EFEMP1,"[FBLN3, MTLV, S1-5, fibulin 3]",EGF containing fibulin extracellular matrix protein 1,gene with protein product,2p16.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19850834],601548,ENSG00000115380,,Q12805,Q12805,HGNC:3218 +GARD:0001912,Orphanet,75376,ORPHA:75376,3,CFH,"[ARMD4, ARMS1, FHL1, H factor 2 (complement), HUS, age-related maculopathy susceptibility 1, beta-1H]",complement factor H,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18252232],134370,ENSG00000000971,,P08603,P08603,HGNC:4883 +GARD:0001912,Orphanet,75376,ORPHA:75376,3,CFI,"[C3b-INA, C3b-inactivator, FI, KAF, Konglutinogen-activating factor]",complement factor I,gene with protein product,4q25,Disease-causing germline mutation(s) in,Assessed,[PMID:25986072],217030,ENSG00000205403,,P05156,P05156,HGNC:5394 +GARD:0001996,Orphanet,241,ORPHA:241,1,ABCB6,"[ATP-binding cassette half-transporter, EST45597, MTABC3, umat]",ATP binding cassette subfamily B member 6 (Langereis blood group),gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:23519333],605452,ENSG00000115657,773,Q9NP58,Q9NP58,HGNC:47 +GARD:0001998,Orphanet,1766,ORPHA:1766,5,TUBB2B,"[DKFZp566F223, MGC8685, bA506K6.1, class IIb beta-tubulin]",tubulin beta 2B class IIb,gene with protein product,6p25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28013290],612850,ENSG00000137285,,Q9BVA1,Q9BVA1,HGNC:30829 +GARD:0001998,Orphanet,1766,ORPHA:1766,5,WDR81,"[CAMRQ2, FLJ33817, PPP1R166, SORF-2, protein phosphatase 1, regulatory subunit 166]",WD repeat domain 81,gene with protein product,17p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21885617],614218,ENSG00000167716,,Q562E7,,HGNC:26600 +GARD:0001998,Orphanet,1766,ORPHA:1766,5,VLDLR,"[CARMQ1, CHRMQ1, VLDLRCH]",very low density lipoprotein receptor,gene with protein product,9p24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21885617],192977,ENSG00000147852,,P98155,P98155,HGNC:12698 +GARD:0001998,Orphanet,1766,ORPHA:1766,5,CA8,[CARP],carbonic anhydrase 8,gene with protein product,8q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21812104],114815,ENSG00000178538,,P35219,P35219,HGNC:1382 +GARD:0001998,Orphanet,1766,ORPHA:1766,5,ATP8A2,"[ATPIB, ML-1]",ATPase phospholipid transporting 8A2,gene with protein product,13q12.13,Disease-causing germline mutation(s) in,Assessed,[PMID:22892528],605870,ENSG00000132932,855,Q9NTI2,Q9NTI2,HGNC:13533 +GARD:0002000,Orphanet,98869,ORPHA:98869,2,CDIN1,"[FLJ22851, HH114, MGC11326]",CDAN1 interacting nuclease 1,gene with protein product,15q14,Disease-causing germline mutation(s) in,Assessed,[PMID:23716552],615626,ENSG00000186073,,Q9Y2V0,,HGNC:26929 +GARD:0002000,Orphanet,98869,ORPHA:98869,2,CDAN1,"[CDA-I, CDAI]",codanin 1,gene with protein product,15q15.2,Disease-causing germline mutation(s) in,Assessed,,607465,ENSG00000140326,,Q8IWY9,Q8IWY9,HGNC:1713 +GARD:0002001,Orphanet,98873,ORPHA:98873,1,SEC23B,"[CDA-II, CDAII, HEMPAS]","SEC23 homolog B, COPII coat complex component",gene with protein product,20p11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,,610512,ENSG00000101310,,Q15437,Q15437,HGNC:10702 +GARD:0002002,Orphanet,98870,ORPHA:98870,1,KIF23,"[MKLP-1, MKLP1]",kinesin family member 23,gene with protein product,15q23,Disease-causing germline mutation(s) in,Assessed,[PMID:23570799],605064,ENSG00000137807,,Q02241,Q02241,HGNC:6392 +GARD:0002004,Orphanet,98881,ORPHA:98881,3,FGB,,fibrinogen beta chain,gene with protein product,4q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25320241],134830,ENSG00000171564,,P02675,P02675,HGNC:3662 +GARD:0002004,Orphanet,98881,ORPHA:98881,3,FGA,,fibrinogen alpha chain,gene with protein product,4q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25320241],134820,ENSG00000171560,,P02671,P02671,HGNC:3661 +GARD:0002004,Orphanet,98881,ORPHA:98881,3,FGG,,fibrinogen gamma chain,gene with protein product,4q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25320241],134850,ENSG00000171557,,P02679,P02679,HGNC:3694 +GARD:0002007,Orphanet+OMIM,305000,OMIM:305000,1,DKC1,"[Cbf5, H/ACA ribonucleoprotein complex subunit 4, NAP57, NOLA4, XAP101, dyskerin]",dyskerin pseudouridine synthase 1,gene with protein product,Xq28,The molecular basis of the disorder is known,Unknown,,300126,ENSG00000130826,,O60832,O60832,HGNC:2890 +GARD:0002012,Orphanet,1782,ORPHA:1782,3,TCIRG1,"[ATP6N1C, ATP6V0A3, Atp6i, OC-116, OC116, T-cell immune response cDNA 7, TIRC7, V-ATPase subunit a3, a3]","T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30537558],604592,ENSG00000110719,825,Q13488,Q13488,HGNC:11647 +GARD:0002012,Orphanet,1782,ORPHA:1782,3,TNFRSF11A,"[CD265, FEO, ODFR, RANK, TRANCE receptor, TRANCE-R, familial expansile osteolysis, osteoclast differentiation factor receptor, receptor activator of nuclear factor kappa B]",TNF receptor superfamily member 11a,gene with protein product,18q21.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:29568001, PMID:31163101]",603499,ENSG00000141655,1881,Q9Y6Q6,Q9Y6Q6,HGNC:11908 +GARD:0002012,Orphanet,1782,ORPHA:1782,3,SLC29A3,"[ENT3, FLJ11160]",solute carrier family 29 member 3,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Not yet assessed,,612373,ENSG00000198246,1119,Q9BZD2,Q9BZD2,HGNC:23096 +GARD:0002013,Orphanet+OMIM,180700,OMIM:180700,1,WNT5A,"[WNT-5A protein, hWNT5A]",Wnt family member 5A,gene with protein product,3p14.3,The molecular basis of the disorder is known,Unknown,,164975,ENSG00000114251,ligandId:3548,P41221,P41221,HGNC:12784 +GARD:0002026,Orphanet,1865,ORPHA:1865,1,HSPG2,"[PRCAN, endorepellin, perlecan, perlecan proteoglycan]",heparan sulfate proteoglycan 2,gene with protein product,1p36.12,Disease-causing germline mutation(s) in,Assessed,[PMID:11279527],142461,ENSG00000142798,,P98160,P98160,HGNC:5273 +GARD:0002027,Orphanet,256,ORPHA:256,2,TOR1A,"[DQ2, torsin A]",torsin family 1 member A,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301665],605204,ENSG00000136827,,O14656,O14656,HGNC:3098 +GARD:0002027,Orphanet,256,ORPHA:256,2,EIF2AK2,,eukaryotic translation initiation factor 2 alpha kinase 2,gene with protein product,2p22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:33236446],176871,ENSG00000055332,2016,P19525,,HGNC:9437 +GARD:0002028,Orphanet,99657,ORPHA:99657,1,HPCA,,hippocalcin,gene with protein product,1p35.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25799108],142622,ENSG00000121905,,P84074,P84074,HGNC:5144 +GARD:0002033,Orphanet,2554,ORPHA:2554,7,ORC6,,origin recognition complex subunit 6,gene with protein product,16q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21358632, PMID:23516378]",607213,ENSG00000091651,,Q9Y5N6,Q9Y5N6,HGNC:17151 +GARD:0002033,Orphanet,2554,ORPHA:2554,7,ORC1,"[HSORC1, PARC1, origin recognition complex 1, origin recognition complex, subunit 1, S. cerevisiae, homolog-like, replication control protein 1]",origin recognition complex subunit 1,gene with protein product,1p32.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21358632, PMID:23516378]",601902,ENSG00000085840,,Q13415,Q13415,HGNC:8487 +GARD:0002033,Orphanet,2554,ORPHA:2554,7,GMNN,[Gem],geminin DNA replication inhibitor,gene with protein product,6p22.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26637980],602842,ENSG00000112312,,O75496,O75496,HGNC:17493 +GARD:0002033,Orphanet,2554,ORPHA:2554,7,CDT1,"[DUP, RIS2]",chromatin licensing and DNA replication factor 1,gene with protein product,16q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21358632, PMID:23516378]",605525,ENSG00000167513,,Q9H211,Q9H211,HGNC:24576 +GARD:0002033,Orphanet,2554,ORPHA:2554,7,CDC6,,cell division cycle 6,gene with protein product,17q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21358632, PMID:23516378]",602627,ENSG00000094804,,Q99741,Q99741,HGNC:1744 +GARD:0002033,Orphanet,2554,ORPHA:2554,7,CDC45,[human CDC45],cell division cycle 45,gene with protein product,22q11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27374770],603465,ENSG00000093009,,O75419,O75419,HGNC:1739 +GARD:0002033,Orphanet,2554,ORPHA:2554,7,ORC4,"[HsORC4, Orc4p]",origin recognition complex subunit 4,gene with protein product,2q23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21358632, PMID:23516378]",603056,ENSG00000115947,,O43929,O43929,HGNC:8490 +GARD:0002048,Orphanet,1810,ORPHA:1810,4,EDAR,"[ED1R, ED5, EDA1R, EDA3, Edar]",ectodysplasin A receptor,gene with protein product,2q13,Disease-causing germline mutation(s) in,Assessed,,604095,ENSG00000135960,2325,Q9UNE0,Q9UNE0,HGNC:2895 +GARD:0002048,Orphanet,1810,ORPHA:1810,4,TRAF6,[RNF85],TNF receptor associated factor 6,gene with protein product,11p12,Disease-causing germline mutation(s) in,Assessed,,602355,ENSG00000175104,,Q9Y4K3,Q9Y4K3,HGNC:12036 +GARD:0002048,Orphanet,1810,ORPHA:1810,4,KDF1,"[FLJ34633, RP11-344H11.3]",keratinocyte differentiation factor 1,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:27838789],616758,ENSG00000175707,,Q8NAX2,Q8NAX2,HGNC:26624 +GARD:0002048,Orphanet,1810,ORPHA:1810,4,EDARADD,,EDAR associated death domain,gene with protein product,1q42.3-q43,Disease-causing germline mutation(s) in,Assessed,,606603,ENSG00000186197,,Q8WWZ3,Q8WWZ3,HGNC:14341 +GARD:0002056,Orphanet,189,ORPHA:189,1,GJB6,"[CX30, EDH, HED, connexin 30]",gap junction protein beta 6,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:11017065, PMID:11874494]",604418,ENSG00000121742,717,O95452,O95452,HGNC:4288 +GARD:0002057,Orphanet,248,ORPHA:248,4,WNT10A,,Wnt family member 10A,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,,606268,ENSG00000135925,,Q9GZT5,Q9GZT5,HGNC:13829 +GARD:0002057,Orphanet,248,ORPHA:248,4,EDAR,"[ED1R, ED5, EDA1R, EDA3, Edar]",ectodysplasin A receptor,gene with protein product,2q13,Disease-causing germline mutation(s) in,Assessed,,604095,ENSG00000135960,2325,Q9UNE0,Q9UNE0,HGNC:2895 +GARD:0002057,Orphanet,248,ORPHA:248,4,CSTB,"['Epilepsy, progressive myoclonic 1', CST6, PME, stefin B]",cystatin B,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30425301],601145,ENSG00000160213,,P04080,P04080,HGNC:2482 +GARD:0002057,Orphanet,248,ORPHA:248,4,EDARADD,,EDAR associated death domain,gene with protein product,1q42.3-q43,Disease-causing germline mutation(s) in,Assessed,,606603,ENSG00000186197,,Q8WWZ3,Q8WWZ3,HGNC:14341 +GARD:0002060,Orphanet+OMIM,225100,OMIM:225100,1,ADAMTSL4,[DKFZP434K1772],ADAMTS like 4,gene with protein product,1q21.2,The molecular basis of the disorder is known,Unknown,,610113,ENSG00000143382,,Q6UY14,Q6UY14,HGNC:19706 +GARD:0002071,Orphanet,1997,ORPHA:1997,2,CTNND1,"[KIAA0384, p120, p120cas, p120ctn]",catenin delta 1,gene with protein product,11q12.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28301459],601045,ENSG00000198561,,O60716,O60716,HGNC:2515 +GARD:0002071,Orphanet,1997,ORPHA:1997,2,CDH1,"[CD324, E-Cadherin, uvomorulin]",cadherin 1,gene with protein product,16q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28301459],192090,ENSG00000039068,,P12830,P12830,HGNC:1748 +GARD:0002076,Orphanet,1896,ORPHA:1896,1,TP63,"[EEC3, KET, NBP, OFC8, SHFM4, p51, p53CP, p63, p73H, p73L]",tumor protein p63,gene with protein product,3q28,Disease-causing germline mutation(s) in,Assessed,"[PMID:21959367, PMID:24734328]",603273,ENSG00000073282,,Q9H3D4,Q9H3D4,HGNC:15979 +GARD:0002078,Orphanet,1897,ORPHA:1897,1,CDH3,"[CDHP, P-cadherin, PCAD]",cadherin 3,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15805154, PMID:22140374]",114021,ENSG00000062038,,P22223,P22223,HGNC:1762 +GARD:0002082,Orphanet,286,ORPHA:286,1,COL3A1,,collagen type III alpha 1 chain,gene with protein product,2q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301667],120180,ENSG00000168542,,P02461,P02461,HGNC:2201 +GARD:0002084,Orphanet,1899,ORPHA:1899,2,COL1A2,"[alpha 2(I)-collagen, alpha-2 collagen type I, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain, type I procollagen]",collagen type I alpha 2 chain,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:8071956, PMID:9295084]",120160,ENSG00000164692,,P08123,P08123,HGNC:2198 +GARD:0002084,Orphanet,1899,ORPHA:1899,2,COL1A1,[OI4],collagen type I alpha 1 chain,gene with protein product,17q21.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:1867198, PMID:9295084]",120150,ENSG00000108821,,P02452,P02452,HGNC:2197 +GARD:0002088,Orphanet,287,ORPHA:287,3,COL1A1,[OI4],collagen type I alpha 1 chain,gene with protein product,17q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:10739762],120150,ENSG00000108821,,P02452,P02452,HGNC:2197 +GARD:0002088,Orphanet,287,ORPHA:287,3,COL5A2,[AB collagen],collagen type V alpha 2 chain,gene with protein product,2q32.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15580559, PMID:22696272]",120190,ENSG00000204262,,P05997,P05997,HGNC:2210 +GARD:0002088,Orphanet,287,ORPHA:287,3,COL5A1,[alpha 1 type V collagen],collagen type V alpha 1 chain,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15580559, PMID:22696272]",120215,ENSG00000130635,,P20908,P20908,HGNC:2209 +GARD:0002089,Orphanet,1901,ORPHA:1901,2,ADAMTSL2,[KIAA0605],ADAMTS like 2,gene with protein product,9q34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:33369194],612277,ENSG00000197859,,Q86TH1,Q86TH1,HGNC:14631 +GARD:0002089,Orphanet,1901,ORPHA:1901,2,ADAMTS2,"[ADAM-TS2, ADAMTS-3, NPI, PCINP, hPCPNI, procollagen I N-proteinase, procollagen N-endopeptidase]",ADAM metallopeptidase with thrombospondin type 1 motif 2,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:10417273],604539,ENSG00000087116,1675,O95450,O95450,HGNC:218 +GARD:0002102,Orphanet,98863,ORPHA:98863,2,FHL1,"[FHL1B, FLH1A, Four-and-a-half LIM domains 1, KYO-T, LIM protein SLIMMER, MGC111107, SLIM1, XMPMA, bA535K18.1]",four and a half LIM domains 1,gene with protein product,Xq26.3,Disease-causing germline mutation(s) in,Assessed,,300163,ENSG00000022267,,Q13642,Q13642,HGNC:3702 +GARD:0002102,Orphanet,98863,ORPHA:98863,2,EMD,"[LEM domain containing 5, LEMD5, STA]",emerin,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,,300384,ENSG00000102119,,P50402,P50402,HGNC:3331 +GARD:0002108,Orphanet,2396,ORPHA:2396,2,KRAS,"[K-Ras4B, KRAS1]","KRAS proto-oncogene, GTPase",gene with protein product,12p12.1,Candidate gene tested in,Not yet assessed,[PMID:26970110],190070,ENSG00000133703,2824,P01116,P01116,HGNC:6407 +GARD:0002108,Orphanet,2396,ORPHA:2396,2,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Disease-causing somatic mutation(s) in,Assessed,[PMID:26942290],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0002125,Orphanet,99849,ORPHA:99849,1,ENO3,"[beta-enolase, muscle enriched enolase]",enolase 3,gene with protein product,17p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:11506403],131370,ENSG00000108515,,P13929,P13929,HGNC:3354 +GARD:0002137,Orphanet,257,ORPHA:257,1,PLEC,"[PCN, PLTN]",plectin,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20052759],601282,ENSG00000178209,,Q15149,Q15149,HGNC:9069 +GARD:0002139,Orphanet,231568,ORPHA:231568,1,COL7A1,"[LC collagen, collagen VII, alpha-1 polypeptide]",collagen type VII alpha 1 chain,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,,120120,ENSG00000114270,,Q02388,Q02388,HGNC:2214 +GARD:0002141,Orphanet,79396,ORPHA:79396,2,KRT5,[KRT5A],keratin 5,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301543],148040,ENSG00000186081,,P13647,P13647,HGNC:6442 +GARD:0002141,Orphanet,79396,ORPHA:79396,2,KRT14,"[epidermolysis bullosa simplex, Dowling-Meara, Koebner]",keratin 14,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301543],148066,ENSG00000186847,,P02533,P02533,HGNC:6416 +GARD:0002146,Orphanet,79400,ORPHA:79400,2,KRT5,[KRT5A],keratin 5,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301543],148040,ENSG00000186081,,P13647,P13647,HGNC:6442 +GARD:0002146,Orphanet,79400,ORPHA:79400,2,KRT14,"[epidermolysis bullosa simplex, Dowling-Meara, Koebner]",keratin 14,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301543],148066,ENSG00000186847,,P02533,P02533,HGNC:6416 +GARD:0002147,Orphanet,79399,ORPHA:79399,2,KRT5,[KRT5A],keratin 5,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301543],148040,ENSG00000186081,,P13647,P13647,HGNC:6442 +GARD:0002147,Orphanet,79399,ORPHA:79399,2,KRT14,"[epidermolysis bullosa simplex, Dowling-Meara, Koebner]",keratin 14,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301543],148066,ENSG00000186847,,P02533,P02533,HGNC:6416 +GARD:0002148,Orphanet,79401,ORPHA:79401,1,PLEC,"[PCN, PLTN]",plectin,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11851880],601282,ENSG00000178209,,Q15149,Q15149,HGNC:9069 +GARD:0002153,Orphanet,79404,ORPHA:79404,3,LAMB3,"[BM600-125kDa, kalinin-140kDa, nicein-125kDa]",laminin subunit beta 3,gene with protein product,1q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301304],150310,ENSG00000196878,,Q13751,Q13751,HGNC:6490 +GARD:0002153,Orphanet,79404,ORPHA:79404,3,LAMA3,"[BM600-150kDa, epiligrin, kalinin-165kDa, nicein-150kDa]",laminin subunit alpha 3,gene with protein product,18q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301304],600805,ENSG00000053747,,Q16787,Q16787,HGNC:6483 +GARD:0002153,Orphanet,79404,ORPHA:79404,3,LAMC2,"[BM600-100kDa, kalinin-105kDa, nicein-100kDa]",laminin subunit gamma 2,gene with protein product,1q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301304],150292,ENSG00000058085,,Q13753,Q13753,HGNC:6493 +GARD:0002155,Orphanet,79410,ORPHA:79410,1,COL7A1,"[LC collagen, collagen VII, alpha-1 polypeptide]",collagen type VII alpha 1 chain,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,,120120,ENSG00000114270,,Q02388,Q02388,HGNC:2214 +GARD:0002162,Orphanet,1941,ORPHA:1941,1,EFHC1,"[FLJ10466, POC9, RIB72, myoclonin-1]",EF-hand domain containing 1,gene with protein product,6p12.2,Major susceptibility factor in,Assessed,[PMID:17159113],608815,ENSG00000096093,,Q5JVL4,Q5JVL4,HGNC:16406 +GARD:0002167,Orphanet,263516,ORPHA:263516,1,KCTD7,"[CLN14, EPM3, FLJ32069]",potassium channel tetramerization domain containing 7,gene with protein product,7q11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:22693283, PMID:22748208]",611725,ENSG00000243335,,Q96MP8,Q96MP8,HGNC:21957 +GARD:0002169,Orphanet,1942,ORPHA:1942,7,CHD2,"[DKFZp547I1315, DKFZp686E01200, DKFZp781D1727, FLJ38614]",chromodomain helicase DNA binding protein 2,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23708187],602119,ENSG00000173575,,O14647,,HGNC:1917 +GARD:0002169,Orphanet,1942,ORPHA:1942,7,SYNGAP1,"[KIAA1938, RASA5, SYNGAP]",synaptic Ras GTPase activating protein 1,gene with protein product,6p21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:32469098],603384,ENSG00000197283,,Q96PV0,Q96PV0,HGNC:11497 +GARD:0002169,Orphanet,1942,ORPHA:1942,7,SLC6A1,"[GABA transporter 1, GABATHG, GABATR, GAT1]",solute carrier family 6 member 1,gene with protein product,3p25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25865495],137165,ENSG00000157103,929,P30531,P30531,HGNC:11042 +GARD:0002169,Orphanet,1942,ORPHA:1942,7,SCN1A,"[GEFSP2, HBSCI, NAC1, Nav1.1, SMEI]",sodium voltage-gated channel alpha subunit 1,gene with protein product,2q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21396429],182389,ENSG00000144285,578,P35498,P35498,HGNC:10585 +GARD:0002169,Orphanet,1942,ORPHA:1942,7,AP2M1,"[AP-2 mu 2 chain, AP50, HA2 50 kDA subunit, clathrin adaptor complex AP2, mu subunit, clathrin assembly protein complex 2 medium chain, clathrin coat adaptor protein AP50, clathrin-associated/assembly/adaptor protein, medium 1, mu2, plasma membrane adaptor AP-2 50kDA protein]",adaptor related protein complex 2 subunit mu 1,gene with protein product,3q27.1,Disease-causing germline mutation(s) in,Assessed,[PMID:31104773],601024,ENSG00000161203,,Q96CW1,Q96CW1,HGNC:564 +GARD:0002169,Orphanet,1942,ORPHA:1942,7,SLC2A1,"[DYT18, DYT9]",solute carrier family 2 member 1,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21555602, PMID:31170314]",138140,ENSG00000117394,875,P11166,P11166,HGNC:11005 +GARD:0002169,Orphanet,1942,ORPHA:1942,7,NEXMIF,"[KIDLIA, MRX98, XLMR-related protein, neurite extension, XPN]",neurite extension and migration factor,gene with protein product,Xq13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:32469098],300524,ENSG00000050030,,Q5QGS0,,HGNC:29433 +GARD:0002180,Orphanet,93308,ORPHA:93308,1,COMP,"[MED, THBS5, thrombospondin-5]",cartilage oligomeric matrix protein,gene with protein product,19p13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301302],600310,ENSG00000105664,,P49747,P49747,HGNC:2227 +GARD:0002191,Orphanet+OMIM,609536,OMIM:609536,1,C5,"[C5a, C5a anaphylatoxin, C5b, CPAMD4, prepro-C5]",complement C5,gene with protein product,9q33.2,The molecular basis of the disorder is known,Unknown,,120900,ENSG00000106804,ligandId:573,P01031,P01031,HGNC:1331 +GARD:0002198,Orphanet,51188,ORPHA:51188,1,ETHE1,"[HSCO, YF13H12]",ETHE1 persulfide dioxygenase,gene with protein product,19q13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:18593870],608451,ENSG00000105755,,O95571,O95571,HGNC:23287 +GARD:0002204,Orphanet+OMIM,133700,OMIM:133700,1,EXT1,"[Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, ttv]",exostosin glycosyltransferase 1,gene with protein product,8q24.11,The molecular basis of the disorder is known,Unknown,,608177,ENSG00000182197,,Q16394,Q16394,HGNC:3512 +GARD:0002205,Orphanet+OMIM,133701,OMIM:133701,1,EXT2,"[Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, SOTV]",exostosin glycosyltransferase 2,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,608210,ENSG00000151348,,Q93063,Q93063,HGNC:3513 +GARD:0002206,Orphanet+OMIM,600209,OMIM:600209,1,EXT3,,"Exostoses, multiple, 3",unknown,19p,The disease phenotype itself was mapped,Unknown,,600209,,,,,GeneID:2133 +GARD:0002237,Orphanet,326,ORPHA:326,1,F5,,coagulation factor V,gene with protein product,1q24.2,Disease-causing germline mutation(s) in,Assessed,,612309,ENSG00000198734,2606,P12259,P12259,HGNC:3542 +GARD:0002238,Orphanet,327,ORPHA:327,1,F7,"[FVII coagulation protein, eptacog alfa, factor VII]",coagulation factor VII,gene with protein product,13q34,Disease-causing germline mutation(s) in,Assessed,,613878,ENSG00000057593,2363,P08709,P08709,HGNC:3544 +GARD:0002245,Orphanet,3303,ORPHA:3303,13,CITED2,[MRG1],Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2,gene with protein product,6q24.1,Major susceptibility factor in,Not yet assessed,,602937,ENSG00000164442,,Q99967,Q99967,HGNC:1987 +GARD:0002245,Orphanet,3303,ORPHA:3303,13,GATA4,,GATA binding protein 4,gene with protein product,8p23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24000169],600576,ENSG00000136574,,P43694,P43694,HGNC:4173 +GARD:0002245,Orphanet,3303,ORPHA:3303,13,GJA5,"[CX40, connexin 40]",gap junction protein alpha 5,gene with protein product,1q21.2,Major susceptibility factor in,Assessed,[PMID:22713807],121013,ENSG00000265107,726,P36382,P36382,HGNC:4279 +GARD:0002245,Orphanet,3303,ORPHA:3303,13,GATA5,"[GATAS, bB379O24.1]",GATA binding protein 5,gene with protein product,20q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23289003],611496,ENSG00000130700,,Q9BWX5,Q9BWX5,HGNC:15802 +GARD:0002245,Orphanet,3303,ORPHA:3303,13,GDF1,,growth differentiation factor 1,gene with protein product,19p13.11,Major susceptibility factor in,Not yet assessed,,602880,ENSG00000130283,,P27539,P27539,HGNC:4214 +GARD:0002245,Orphanet,3303,ORPHA:3303,13,GATA6,,GATA binding protein 6,gene with protein product,18q11.2,Major susceptibility factor in,Not yet assessed,[PMID:20581743],601656,ENSG00000141448,,Q92908,Q92908,HGNC:4174 +GARD:0002245,Orphanet,3303,ORPHA:3303,13,JAG1,"[AHD, AWS, CD339, HJ1]",jagged canonical Notch ligand 1,gene with protein product,20p12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21893051],601920,ENSG00000101384,,P78504,P78504,HGNC:6188 +GARD:0002245,Orphanet,3303,ORPHA:3303,13,TBX1,[CATCH22],T-box transcription factor 1,gene with protein product,22q11.21,Candidate gene tested in,Not yet assessed,[PMID:20937753],602054,ENSG00000184058,,O43435,,HGNC:11592 +GARD:0002245,Orphanet,3303,ORPHA:3303,13,KDR,"[CD309, FLK1, VEGFR, VEGFR2, fetal liver kinase 1, vascular endothelial growth factor receptor 2]",kinase insert domain receptor,gene with protein product,4q12,Major susceptibility factor in,Assessed,[PMID:34113005],191306,ENSG00000128052,1813,P35968,P35968,HGNC:6307 +GARD:0002245,Orphanet,3303,ORPHA:3303,13,FLT4,"[Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4, PCL, VEGF receptor-3, VEGFR-3, VEGFR3, primary congenital lymphedema, vascular endothelial growth factor receptor 3]",fms related receptor tyrosine kinase 4,gene with protein product,5q35.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30232381],136352,ENSG00000037280,1814,P35916,P35916,HGNC:3767 +GARD:0002245,Orphanet,3303,ORPHA:3303,13,NKX2-5,"[CSX1, NKX2.5, NKX4-1, tinman (Drosophila) homolog, tinman paralog (Drosophila)]",NK2 homeobox 5,gene with protein product,5q34,Candidate gene tested in,Assessed,[PMID:29045289],600584,ENSG00000183072,,P52952,P52952,HGNC:2488 +GARD:0002245,Orphanet,3303,ORPHA:3303,13,ZFPM2,"[FOG2, ZC2HC11B, ZNF89B, hFOG-2]","zinc finger protein, FOG family member 2",gene with protein product,8q23,Major susceptibility factor in,Assessed,"[PMID:14517948, PMID:24702427]",603693,ENSG00000169946,,Q8WW38,Q8WW38,HGNC:16700 +GARD:0002245,Orphanet,3303,ORPHA:3303,13,NKX2-6,"[CSX2, NKX4-2, tinman (Drosophila) homolog, tinman paralog (Drosophila)]",NK2 homeobox 6,gene with protein product,8p21.2,Major susceptibility factor in,Assessed,[PMID:25195019],611770,ENSG00000180053,,A6NCS4,,HGNC:32940 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,MAT2A,"[MATA2, MATII, SAMS2]",methionine adenosyltransferase 2A,gene with protein product,2p11.2,Candidate gene tested in,Assessed,[PMID:25557781],601468,ENSG00000168906,,P31153,P31153,HGNC:6904 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,TGFB2,[prepro-transforming growth factor beta-2],transforming growth factor beta 2,gene with protein product,1q41,Disease-causing germline mutation(s) in,Assessed,[PMID:22772371],190220,ENSG00000092969,,P61812,P61812,HGNC:11768 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,HEY2,"[HERP1, HESR2, bHLHb32]",hes related family bHLH transcription factor with YRPW motif 2,gene with protein product,6q22.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:32820247],604674,ENSG00000135547,,Q9UBP5,Q9UBP5,HGNC:4881 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,SMAD4,[DPC4],SMAD family member 4,gene with protein product,18q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30809044],600993,ENSG00000141646,,Q13485,Q13485,HGNC:6770 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,FOXE3,[FREAC8],forkhead box E3,gene with protein product,1p33,Disease-causing germline mutation(s) in,Assessed,[PMID:26854927],601094,ENSG00000186790,,Q13461,,HGNC:3808 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,SMAD3,"[HsT17436, JV15-2]",SMAD family member 3,gene with protein product,15q22.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20301299],603109,ENSG00000166949,,P84022,P84022,HGNC:6769 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,TGFB3,[prepro-transforming growth factor beta-3],transforming growth factor beta 3,gene with protein product,14q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23824657, PMID:25835445]",190230,ENSG00000119699,,P10600,P10600,HGNC:11769 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,LOX,[protein-lysine 6-oxidase],lysyl oxidase,gene with protein product,5q23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26838787, PMID:27432961]",153455,ENSG00000113083,3097,P28300,P28300,HGNC:6664 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,TGFBR2,"[TBR-ii, TBRII]",transforming growth factor beta receptor 2,gene with protein product,3p24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301299],190182,ENSG00000163513,1795,P37173,P37173,HGNC:11773 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,TGFBR1,"[ACVRLK4, ALK-5, ALK5, TBR-i, TBRI, activin A receptor type II-like kinase, 53kDa]",transforming growth factor beta receptor 1,gene with protein product,9q22.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20301299],190181,ENSG00000106799,1788,P36897,P36897,HGNC:11772 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,MYLK,"[MLCK, MLCK1, MYLK1, smMLCK, smooth muscle myosin light chain kinase]",myosin light chain kinase,gene with protein product,3q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301299],600922,ENSG00000065534,1552,Q15746,Q15746,HGNC:7590 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,MYH11,"[SMHC, SMMHC]",myosin heavy chain 11,gene with protein product,16p13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301299],160745,ENSG00000133392,,P35749,P35749,HGNC:7569 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,FBN1,"[MASS, Marfan syndrome, OCTD, SGS, asprosin]",fibrillin 1,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301299],134797,ENSG00000166147,,P35555,P35555,HGNC:3603 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,ACTA2,[ACTSA],"actin alpha 2, smooth muscle",gene with protein product,10q23.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301299],102620,ENSG00000107796,,P62736,P62736,HGNC:130 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,PRKG1,"[PGK, PKG, PKG1]",protein kinase cGMP-dependent 1,gene with protein product,10q11.23-q21.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23910461],176894,ENSG00000185532,1492,Q13976,Q13976,HGNC:9414 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,SMAD2,"[JV18-1, MADR2]",SMAD family member 2,gene with protein product,18q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29967133],601366,ENSG00000175387,,Q15796,Q15796,HGNC:6768 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,MFAP5,"[MAGP2, MP25, microfibril-associated glycoprotein-2]",microfibril associated protein 5,gene with protein product,12p13.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25434006],601103,ENSG00000197614,,Q13361,Q13361,HGNC:29673 +GARD:0002249,Orphanet,91387,ORPHA:91387,18,ELN,"[SVAS, WBS, WS, Williams-Beuren syndrome, supravalvular aortic stenosis, tropoelastin]",elastin,gene with protein product,7q11.23,Candidate gene tested in,Not yet assessed,[PMID:24932728],130160,ENSG00000049540,,P15502,P15502,HGNC:3327 +GARD:0002250,Orphanet+OMIM,600348,OMIM:600348,1,EML1,"[ELP79, EMAP, HuEMAP]",EMAP like 1,gene with protein product,14q32.2,The molecular basis of the disorder is known,Unknown,,602033,ENSG00000066629,,O00423,,HGNC:3330 +GARD:0002257,Orphanet,101046,ORPHA:101046,3,DEPDC5,"[DEP.5, KIAA0645]","DEP domain containing 5, GATOR1 subcomplex subunit",gene with protein product,22q12.2-q12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23542697, PMID:23542701]",614191,ENSG00000100150,,O75140,,HGNC:18423 +GARD:0002257,Orphanet,101046,ORPHA:101046,3,LGI1,"[EPITEMPIN, ETL1, IB1099]",leucine rich glioma inactivated 1,gene with protein product,10q23.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12601709, PMID:20301709]",604619,ENSG00000108231,,O95970,O95970,HGNC:6572 +GARD:0002257,Orphanet,101046,ORPHA:101046,3,RELN,"[PRO1598, RL]",reelin,gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26046367],600514,ENSG00000189056,,P78509,P78509,HGNC:9957 +GARD:0002258,Orphanet,99810,ORPHA:99810,2,COL4A2,"[Canstatin, Collagen type IV alpha 2, DKFZp686I14213, FLJ22259, canstatin]",collagen type IV alpha 2 chain,gene with protein product,13q34,Disease-causing germline mutation(s) in,Assessed,,120090,ENSG00000134871,,P08572,P08572,HGNC:2203 +GARD:0002258,Orphanet,99810,ORPHA:99810,2,COL4A1,,collagen type IV alpha 1 chain,gene with protein product,13q34,Disease-causing germline mutation(s) in,Assessed,,120130,ENSG00000187498,,P02462,P02462,HGNC:2202 +GARD:0002268,Orphanet,2088,ORPHA:2088,1,SLC2A2,,solute carrier family 2 member 2,gene with protein product,3q26.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21327337, PMID:22865906]",138160,ENSG00000163581,876,P11168,P11168,HGNC:11006 +GARD:0002285,Orphanet,1986,ORPHA:1986,1,BHLHA9,"[BHLHF42, Fingerin, bHLHa9]",basic helix-loop-helix family member a9,gene with protein product,17p13.3,Role in the phenotype of,Assessed,[PMID:25351291],615416,ENSG00000205899,,Q7RTU4,,HGNC:35126 +GARD:0002295,Orphanet,853,ORPHA:853,6,ITGA2B,"[CD41, CD41B, PPP1R93, platelet glycoprotein IIb of IIb/IIIa complex, protein phosphatase 1, regulatory subunit 93]",integrin subunit alpha 2b,gene with protein product,17q21.31,Candidate gene tested in,Not yet assessed,,607759,ENSG00000005961,2441,P08514,P08514,HGNC:6138 +GARD:0002295,Orphanet,853,ORPHA:853,6,CD109,"[CPAMD7, DKFZp762L1111, FLJ38569]",CD109 molecule,gene with protein product,6q13,Candidate gene tested in,Not yet assessed,,608859,ENSG00000156535,,Q6YHK3,Q6YHK3,HGNC:21685 +GARD:0002295,Orphanet,853,ORPHA:853,6,GP1BB,"[CD42c, GPIbbeta, platelet glycoprotein Ib beta chain]",glycoprotein Ib platelet subunit beta,gene with protein product,22q11.21,Candidate gene tested in,Not yet assessed,,138720,ENSG00000203618,,P13224,P13224,HGNC:4440 +GARD:0002295,Orphanet,853,ORPHA:853,6,GP1BA,"[CD42b, GPIbalpha, platelet glycoprotein Ib alpha chain]",glycoprotein Ib platelet subunit alpha,gene with protein product,17p13.2,Candidate gene tested in,Not yet assessed,,606672,ENSG00000185245,,P07359,P07359,HGNC:4439 +GARD:0002295,Orphanet,853,ORPHA:853,6,ITGB3,"[CD61, GPIIIa, antigen CD61, platelet glycoprotein IIIa]",integrin subunit beta 3,gene with protein product,17q21.32,Major susceptibility factor in,Assessed,[PMID:19821948],173470,ENSG00000259207,2457,P05106,P05106,HGNC:6156 +GARD:0002295,Orphanet,853,ORPHA:853,6,ITGA2,"[CD49b, alpha 2 subunit of VLA-2 receptor]",integrin subunit alpha 2,gene with protein product,5q11.2,Candidate gene tested in,Not yet assessed,,192974,ENSG00000164171,2440,P17301,P17301,HGNC:6137 +GARD:0002317,Orphanet,93932,ORPHA:93932,1,MED12,"[ARC240, CAGH45, HOPA, KIAA0192, Kohtalo homolog, Kto, OKS, OPA1, TRAP230]",mediator complex subunit 12,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17334363, PMID:20301719]",300188,ENSG00000184634,,Q93074,Q93074,HGNC:11957 +GARD:0002321,Orphanet,2021,ORPHA:2021,2,COL11A2,[HKE5],collagen type XI alpha 2 chain,gene with protein product,6p21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:22246659],120290,ENSG00000204248,,P13942,P13942,HGNC:2187 +GARD:0002321,Orphanet,2021,ORPHA:2021,2,COL11A1,"[CO11A1, STL2, collagen XI, alpha-1 polypeptide]",collagen type XI alpha 1 chain,gene with protein product,1p21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21035103],120280,ENSG00000060718,,P12107,P12107,HGNC:2186 +GARD:0002322,Orphanet,122,ORPHA:122,1,FLCN,"[BHD, DENND8B, MGC17998, MGC23445]",folliculin,gene with protein product,17p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301695],607273,ENSG00000154803,,Q8NFG4,,HGNC:27310 +GARD:0002324,Orphanet,2026,ORPHA:2026,1,ABCA5,[EST90625],ATP binding cassette subfamily A member 5,gene with protein product,17q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24831815],612503,ENSG00000154265,760,Q8WWZ7,Q8WWZ7,HGNC:35 +GARD:0002327,Orphanet,2030,ORPHA:2030,2,NTRK3,[TRKC],neurotrophic receptor tyrosine kinase 3,gene with protein product,15q25.3,Part of a fusion gene in,Assessed,,191316,ENSG00000140538,1819,Q16288,Q16288,HGNC:8033 +GARD:0002327,Orphanet,2030,ORPHA:2030,2,ETV6,"[TEL, TEL oncogene]",ETS variant transcription factor 6,gene with protein product,12p13.2,Part of a fusion gene in,Assessed,,600618,ENSG00000139083,,P41212,P41212,HGNC:3495 +GARD:0002336,Orphanet,1658,ORPHA:1658,1,SMARCAD1,"[DKFZP762K2015, DKFZp762K2015, ETL1, KIAA1122]","SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1",gene with protein product,4q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26932190],612761,ENSG00000163104,,Q9H4L7,,HGNC:18398 +GARD:0002339,Orphanet,85448,ORPHA:85448,1,GSN,"[DKFZp313L0718, amyloidosis, Finnish type]",gelsolin,gene with protein product,9q33.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:16258946, PMID:22068858, PMID:22622774]",137350,ENSG00000148180,,P06396,P06396,HGNC:4620 +GARD:0002356,Orphanet,545,ORPHA:545,4,BCL6,"[BCL5, BCL6A, LAZ3, ZBTB27]",BCL6 transcription repressor,gene with protein product,3q27.3,Part of a fusion gene in,Assessed,[PMID:22968395],109565,ENSG00000113916,2957,P41182,P41182,HGNC:1001 +GARD:0002356,Orphanet,545,ORPHA:545,4,IGH,,immunoglobulin heavy locus,gene with protein product,14q32.33,Part of a fusion gene in,Assessed,[PMID:23953419],146910; 147010; 147070,,,Q6P089,,HGNC:5477 +GARD:0002356,Orphanet,545,ORPHA:545,4,HLA-DRB1,,"major histocompatibility complex, class II, DR beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,[PMID:23791106],142857,ENSG00000196126,,P01911,P04229,HGNC:4948 +GARD:0002356,Orphanet,545,ORPHA:545,4,BCL2,"[Bcl-2, PPP1R50, protein phosphatase 1, regulatory subunit 50]",BCL2 apoptosis regulator,gene with protein product,18q21.33,Part of a fusion gene in,Assessed,"[PMID:22684552, PMID:23953419]",151430,ENSG00000171791,2844,P10415,P10415,HGNC:990 +GARD:0002362,Orphanet,3238,ORPHA:3238,1,MAP3K7,"[MEKK7, TGF-beta activated kinase 1]",mitogen-activated protein kinase kinase kinase 7,gene with protein product,6q15,Disease-causing germline mutation(s) in,Assessed,[PMID:27426734],602614,ENSG00000135341,2082,O43318,O43318,HGNC:6859 +GARD:0002375,Orphanet,347,ORPHA:347,1,WT1,"[AWT1, NPHS4, WAGR, WIT-2]",WT1 transcription factor,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,[PMID:25623218],607102,ENSG00000184937,,P19544,P19544,HGNC:12796 +GARD:0002378,Orphanet,100973,ORPHA:100973,2,FMR3,,fragile X mental retardation associated 3,Disorder-associated locus,Xq28,Disease-causing germline mutation(s) in,Assessed,"[PMID:11015457, PMID:16469443]",,,,,,HGNC:3777 +GARD:0002378,Orphanet,100973,ORPHA:100973,2,AFF2,[FRAXE],AF4/FMR2 family member 2,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:21739600],300806,ENSG00000155966,,P51816,,HGNC:3776 +GARD:0002400,Orphanet,348,ORPHA:348,1,FBP1,,fructose-bisphosphatase 1,gene with protein product,9q22.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:12126934, PMID:24007283, PMID:9382095]",611570,ENSG00000165140,,P09467,P09467,HGNC:3606 +GARD:0002410,Orphanet,2854,ORPHA:2854,1,WNT7A,"[Wnt-7a, proto-oncogene Wnt7a protein]",Wnt family member 7A,gene with protein product,3p25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23266637, PMID:23922166]",601570,ENSG00000154764,,O00755,O00755,HGNC:12786 +GARD:0002422,Orphanet,79237,ORPHA:79237,1,GALK1,,galactokinase 1,gene with protein product,17q25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:10521295],604313,ENSG00000108479,,P51570,P51570,HGNC:4118 +GARD:0002428,Orphanet,212,ORPHA:212,1,CTH,[CSE],cystathionine gamma-lyase,gene with protein product,1p31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19428278, PMID:20584029]",607657,ENSG00000116761,1444,P32929,P32929,HGNC:2501 +GARD:0002429,Orphanet,353,ORPHA:353,1,SGCG,"[35kD dystrophin-associated glycoprotein, A4, DAGA4, DMDA, MGC130048, Maghrebian myopathy (autosomal recessive), SCARMD2, SCG3, TYPE, gamma sarcoglycan, limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)]",sarcoglycan gamma,gene with protein product,13q12.12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],608896,ENSG00000102683,,Q13326,Q13326,HGNC:10809 +GARD:0002431,Orphanet,79257,ORPHA:79257,1,GLB1,"[EBP, elastin binding protein]",galactosidase beta 1,gene with protein product,3p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24156116],611458,ENSG00000170266,,P16278,P16278,HGNC:4298 +GARD:0002432,Orphanet,1018,ORPHA:1018,2,COL4A6,,collagen type IV alpha 6 chain,gene with protein product,Xq22.3,Role in the phenotype of,Assessed,[PMID:20951201],303631,ENSG00000197565,,Q14031,Q14031,HGNC:2208 +GARD:0002432,Orphanet,1018,ORPHA:1018,2,COL4A5,,collagen type IV alpha 5 chain,gene with protein product,Xq22.3,Role in the phenotype of,Assessed,[PMID:20951201],303630,ENSG00000188153,,P29400,P29400,HGNC:2207 +GARD:0002441,Orphanet,77259,ORPHA:77259,2,GBA,"[GBA1, glucocerebrosidase]",glucosylceramidase beta,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:20301446],606463,ENSG00000177628,2978,P04062,P04062,HGNC:4177 +GARD:0002441,Orphanet,77259,ORPHA:77259,2,SCARB2,"[HLGP85, LIMP-2, LIMPII, SR-BII, lysosomal integral membrane protein II, lysosome membrane protein 2]",scavenger receptor class B member 2,gene with protein product,4q21.1,Modifying germline mutation in,Assessed,[PMID:21796727],602257,ENSG00000138760,,Q14108,Q14108,HGNC:1665 +GARD:0002442,Orphanet,77260,ORPHA:77260,1,GBA,"[GBA1, glucocerebrosidase]",glucosylceramidase beta,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:20301446],606463,ENSG00000177628,2978,P04062,P04062,HGNC:4177 +GARD:0002443,Orphanet,77261,ORPHA:77261,1,GBA,"[GBA1, glucocerebrosidase]",glucosylceramidase beta,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:20301446],606463,ENSG00000177628,2978,P04062,P04062,HGNC:4177 +GARD:0002449,Orphanet,2623,ORPHA:2623,3,ADAMTSL2,[KIAA0605],ADAMTS like 2,gene with protein product,9q34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301776],612277,ENSG00000197859,,Q86TH1,Q86TH1,HGNC:14631 +GARD:0002449,Orphanet,2623,ORPHA:2623,3,FBN1,"[MASS, Marfan syndrome, OCTD, SGS, asprosin]",fibrillin 1,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301776, PMID:21683322]",134797,ENSG00000166147,,P35555,P35555,HGNC:3603 +GARD:0002449,Orphanet,2623,ORPHA:2623,3,LTBP3,,latent transforming growth factor beta binding protein 3,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27068007],602090,ENSG00000168056,,Q9NS15,Q9NS15,HGNC:6716 +GARD:0002452,Orphanet,2084,ORPHA:2084,1,FBN1,"[MASS, Marfan syndrome, OCTD, SGS, asprosin]",fibrillin 1,gene with protein product,15q21.1,Candidate gene tested in,Not yet assessed,,134797,ENSG00000166147,,P35555,P35555,HGNC:3603 +GARD:0002456,Orphanet+OMIM,607948,OMIM:607948,10,IFNGR1,[CD119],interferon gamma receptor 1,gene with protein product,6q23.3,The molecular basis of the disorder is known,Unknown,,107470,ENSG00000027697,objectId:1725,P15260,P15260,HGNC:5439 +GARD:0002456,Orphanet+OMIM,607948,OMIM:607948,10,IFNG,,interferon gamma,gene with protein product,12q15,The molecular basis of the disorder is known,Unknown,,147570,ENSG00000111537,ligandId:4968,P01579,P01579,HGNC:5438 +GARD:0002456,Orphanet+OMIM,607948,OMIM:607948,10,SP110,,SP110 nuclear body protein,gene with protein product,2q37.1,The molecular basis of the disorder is known,Unknown,,604457,ENSG00000135899,objectId:2778,Q9HB58,,HGNC:5401 +GARD:0002456,Orphanet+OMIM,607948,OMIM:607948,10,IRGM,"[IFI1, LRG-47, LRG47]",immunity related GTPase M,gene with protein product,5q33.1,The molecular basis of the disorder is known,Unknown,,608212,ENSG00000237693,,A1A4Y4,,HGNC:29597 +GARD:0002456,Orphanet+OMIM,607948,OMIM:607948,10,CISH,"[CIS, CIS-1, G18, SOCS]",cytokine inducible SH2 containing protein,gene with protein product,3p21.2,The molecular basis of the disorder is known,Unknown,,602441,ENSG00000114737,,Q9NSE2,Q9NSE2,HGNC:1984 +GARD:0002456,Orphanet+OMIM,607948,OMIM:607948,10,TIRAP,"[Mal, MyD88 adapter-like, wyatt]",TIR domain containing adaptor protein,gene with protein product,11q24.2,The molecular basis of the disorder is known,Unknown,,606252,ENSG00000150455,,P58753,P58753,HGNC:17192 +GARD:0002456,Orphanet+OMIM,607948,OMIM:607948,10,CD209,"[CDSIGN, CLEC4L, DC-SIGN, DC-SIGN1, hDC-SIGN]",CD209 molecule,gene with protein product,19p13.2,The molecular basis of the disorder is known,Unknown,,604672,ENSG00000090659,objectId:2930,Q9NNX6,Q9NNX6,HGNC:1641 +GARD:0002456,Orphanet+OMIM,607948,OMIM:607948,10,TLR2,"[CD282, TIL4]",toll like receptor 2,gene with protein product,4q31.3,The molecular basis of the disorder is known,Unknown,,603028,ENSG00000137462,objectId:1752,O60603,O60603,HGNC:11848 +GARD:0002456,Orphanet+OMIM,607948,OMIM:607948,10,SLC11A1,,solute carrier family 11 member 1,gene with protein product,2q35,The molecular basis of the disorder is known,Unknown,,600266,ENSG00000018280,objectId:966,P49279,P49279,HGNC:10907 +GARD:0002456,Orphanet+OMIM,607948,OMIM:607948,10,CCL2,"[GDCF-2, HC11, MCAF, MCP-1, MCP1, MGC9434, SMC-CF, homologous to mouse Sig-je, member 2, monocyte chemoattractant protein-1, monocyte chemotactic and activating factor, monocyte chemotactic protein 1, monocyte secretory protein JE, small inducible cytokine subfamily A (Cys-Cys)]",C-C motif chemokine ligand 2,gene with protein product,17q12,The molecular basis of the disorder is known,Unknown,,158105,ENSG00000108691,ligandId:771,P13500,P13500,HGNC:10618 +GARD:0002469,Orphanet,626,ORPHA:626,2,NRAS,[N-ras],"NRAS proto-oncogene, GTPase",gene with protein product,1p13.2,Disease-causing somatic mutation(s) in,Assessed,"[PMID:23392294, PMID:24129063]",164790,ENSG00000213281,2823,P01111,P01111,HGNC:7989 +GARD:0002469,Orphanet,626,ORPHA:626,2,MC1R,"[MSH-R, alpha melanocyte stimulating hormone receptor]",melanocortin 1 receptor,gene with protein product,16q24.3,Modifying germline mutation in,Assessed,[PMID:22572819],155555,ENSG00000258839,282,Q01726,Q01726,HGNC:6929 +GARD:0002470,Orphanet,274,ORPHA:274,3,GP9,"[CD42a, GPIX, platelet glycoprotein IX]",glycoprotein IX platelet,gene with protein product,3q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22886561],173515,ENSG00000169704,,P14770,P14770,HGNC:4444 +GARD:0002470,Orphanet,274,ORPHA:274,3,GP1BB,"[CD42c, GPIbbeta, platelet glycoprotein Ib beta chain]",glycoprotein Ib platelet subunit beta,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:22886561],138720,ENSG00000203618,,P13224,P13224,HGNC:4440 +GARD:0002470,Orphanet,274,ORPHA:274,3,GP1BA,"[CD42b, GPIbalpha, platelet glycoprotein Ib alpha chain]",glycoprotein Ib platelet subunit alpha,gene with protein product,17p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22886561],606672,ENSG00000185245,,P07359,P07359,HGNC:4439 +GARD:0002474,Orphanet+OMIM,605544,OMIM:605544,1,GINGF2,"[GGF2, HGF2]","Fibromatosis, gingival, 2",unknown,5q13-q22,The disease phenotype itself was mapped,Unknown,,605544,,,,,GeneID:64644 +GARD:0002475,Orphanet+OMIM,611010,OMIM:611010,1,GINGF4,"[GGF4, HGF4]","Fibromatosis, gingival, 4",unknown,11p15,The disease phenotype itself was mapped,Unknown,,611010,,,,,GeneID:100124414 +GARD:0002478,Orphanet,849,ORPHA:849,2,ITGA2B,"[CD41, CD41B, PPP1R93, platelet glycoprotein IIb of IIb/IIIa complex, protein phosphatase 1, regulatory subunit 93]",integrin subunit alpha 2b,gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:21917754],607759,ENSG00000005961,2441,P08514,P08514,HGNC:6138 +GARD:0002478,Orphanet,849,ORPHA:849,2,ITGB3,"[CD61, GPIIIa, antigen CD61, platelet glycoprotein IIIa]",integrin subunit beta 3,gene with protein product,17q21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:21917754],173470,ENSG00000259207,2457,P05106,P05106,HGNC:6156 +GARD:0002485,Orphanet,98976,ORPHA:98976,4,LTBP2,,latent transforming growth factor beta binding protein 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19361779],602091,ENSG00000119681,,Q14767,Q14767,HGNC:6715 +GARD:0002485,Orphanet,98976,ORPHA:98976,4,MYOC,"[JOAG1, TIGR, juvenile-onset open-angle glaucoma 1, trabecular meshwork inducible glucocorticoid response protein]",myocilin,gene with protein product,1q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15733270, PMID:21168818, PMID:21730848]",601652,ENSG00000034971,,Q99972,,HGNC:7610 +GARD:0002485,Orphanet,98976,ORPHA:98976,4,TEK,"[CD202b, TIE-2, TIE2, VMCM1, angiopoietin-1 receptor]",TEK receptor tyrosine kinase,gene with protein product,9p21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27270174],600221,ENSG00000120156,1842,Q02763,Q02763,HGNC:11724 +GARD:0002485,Orphanet,98976,ORPHA:98976,4,CYP1B1,[CP1B],cytochrome P450 family 1 subfamily B member 1,gene with protein product,2p22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21730848],601771,ENSG00000138061,1320,Q16678,Q16678,HGNC:2597 +GARD:0002490,Orphanet+OMIM,600975,OMIM:600975,1,GLC3B,,"Glaucoma 3, primary infantile, B",unknown,1p36.2-p36.1,The disease phenotype itself was mapped,Unknown,,600975,,,,,GeneID:2728 +GARD:0002492,Orphanet+OMIM,137940,OMIM:137940,1,SOX18,,SRY-box transcription factor 18,gene with protein product,20q13.33,The molecular basis of the disorder is known,Unknown,,601618,ENSG00000203883,,P35713,,HGNC:11194 +GARD:0002498,Orphanet,361,ORPHA:361,5,MRAP,"[B27, FALP]",melanocortin 2 receptor accessory protein,gene with protein product,21q22.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:15654338, PMID:17893271, PMID:20427498]",609196,ENSG00000170262,,Q8TCY5,,HGNC:1304 +GARD:0002498,Orphanet,361,ORPHA:361,5,MC2R,"[ACTHR, adrenocorticotropic hormone receptor]",melanocortin 2 receptor,gene with protein product,18p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:17128564, PMID:18492762, PMID:8069303]",607397,ENSG00000185231,283,Q01718,Q01718,HGNC:6930 +GARD:0002498,Orphanet,361,ORPHA:361,5,TXNRD2,"[SELZ, Selenoprotein Z, TR, TR3, TRXR2, Thioredoxin reductase beta, selenoprotein Z, thioredoxin reductase beta]",thioredoxin reductase 2,gene with protein product,22q11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24601690],606448,ENSG00000184470,,Q9NNW7,Q9NNW7,HGNC:18155 +GARD:0002498,Orphanet,361,ORPHA:361,5,STAR,"[STARD1, StAR, StAR related lipid transfer (START) domain containing 1]",steroidogenic acute regulatory protein,gene with protein product,8p11.23,Candidate gene tested in,Not yet assessed,[PMID:19773404],600617,ENSG00000147465,,P49675,P49675,HGNC:11359 +GARD:0002498,Orphanet,361,ORPHA:361,5,NNT,,nicotinamide nucleotide transhydrogenase,gene with protein product,5p12,Disease-causing germline mutation(s) in,Assessed,[PMID:22634753],607878,ENSG00000112992,,Q13423,Q13423,HGNC:7863 +GARD:0002499,Orphanet,786,ORPHA:786,1,NR3C1,"[GR, glucocorticoid receptor]",nuclear receptor subfamily 3 group C member 1,gene with protein product,5q31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19933394, PMID:23076843]",138040,ENSG00000113580,625,P04150,P04150,HGNC:7978 +GARD:0002513,Orphanet,2089,ORPHA:2089,1,GYS2,,glycogen synthase 2,gene with protein product,12p12.1,Disease-causing germline mutation(s) in,Assessed,,138571,ENSG00000111713,,P54840,P54840,HGNC:4707 +GARD:0002515,Orphanet,79259,ORPHA:79259,1,SLC37A4,"[GSD1b, GSD1c, GSD1d]",solute carrier family 37 member 4,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,,602671,ENSG00000137700,1168,O43826,O43826,HGNC:4061 +GARD:0002542,Orphanet,2855,ORPHA:2855,6,HARS2,"[HARSR, HO3, histidine tRNA ligase 2, mitochondrial (putative)]","histidyl-tRNA synthetase 2, mitochondrial",gene with protein product,5q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21464306],600783,ENSG00000112855,,P49590,P49590,HGNC:4817 +GARD:0002542,Orphanet,2855,ORPHA:2855,6,LARS2,"['leucine tRNA ligase 2, mitochondrial', KIAA0028, LEURS, Leucine tRNA ligase 2, mitochondrial, MGC26121, mtLeuRS]","leucyl-tRNA synthetase 2, mitochondrial",gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:23541342],604544,ENSG00000011376,,Q15031,Q15031,HGNC:17095 +GARD:0002542,Orphanet,2855,ORPHA:2855,6,CLPP,"[ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human]",caseinolytic mitochondrial matrix peptidase proteolytic subunit,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23541340],601119,ENSG00000125656,,Q16740,,HGNC:2084 +GARD:0002542,Orphanet,2855,ORPHA:2855,6,ERAL1,[HERA-B],Era like 12S mitochondrial rRNA chaperone 1,gene with protein product,17q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28449065],607435,ENSG00000132591,,O75616,O75616,HGNC:3424 +GARD:0002542,Orphanet,2855,ORPHA:2855,6,HSD17B4,"[17-beta-HSD IV, 17-beta-hydroxysteroid dehydrogenase 4, 17beta-estradiol dehydrogenase type IV, 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase, D-3-hydroxyacyl-CoA dehydratase, D-bifunctional protein, peroxisomal, DBP, MFE-2, SDR8C1, beta-hydroxyacyl dehydrogenase, beta-keto-reductase, peroxisomal multifunctional protein 2, short chain dehydrogenase/reductase family 8C, member 1]",hydroxysteroid 17-beta dehydrogenase 4,gene with protein product,5q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20673864],601860,ENSG00000133835,,P51659,P51659,HGNC:5213 +GARD:0002542,Orphanet,2855,ORPHA:2855,6,TWNK,"[FLJ21832, PEO, PEO1, T7 helicase-related protein with intramitochondrial nucleoid localization, TWINKLE, TWINL]",twinkle mtDNA helicase,gene with protein product,10q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:25355836],606075,ENSG00000107815,,Q96RR1,Q96RR1,HGNC:1160 +GARD:0002553,Orphanet,376,ORPHA:376,1,PIEZO2,"[FLJ23144, FLJ23403, FLJ34907, HsT748, HsT771]",piezo type mechanosensitive ion channel component 2,gene with protein product,18p11.22-p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:24726473],613629,ENSG00000154864,2946,Q9H5I5,,HGNC:26270 +GARD:0002562,Orphanet,721,ORPHA:721,1,NBEAL2,[KIAA0540],neurobeachin like 2,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21765411, PMID:21765412]",614169,ENSG00000160796,,Q6ZNJ1,Q6ZNJ1,HGNC:31928 +GARD:0002566,Orphanet,79476,ORPHA:79476,1,MYO5A,"[GS1, MYO5, MYR12, myosin V, myosin heavy chain 12, myosin, heavy polypeptide kinase, myoxin]",myosin VA,gene with protein product,15q21.2,Disease-causing germline mutation(s) in,Assessed,,160777,ENSG00000197535,,Q9Y4I1,Q9Y4I1,HGNC:7602 +GARD:0002572,Orphanet,2588,ORPHA:2588,1,SMAD4,[DPC4],SMAD family member 4,gene with protein product,18q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22158539, PMID:22243968, PMID:24398790, PMID:24580733, PMID:24715504]",600993,ENSG00000141646,,Q13485,Q13485,HGNC:6770 +GARD:0002578,Orphanet,382,ORPHA:382,1,GAMT,"[PIG2, TP53I2]",guanidinoacetate N-methyltransferase,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301745],601240,ENSG00000130005,,Q14353,Q14353,HGNC:4136 +GARD:0002579,Orphanet+OMIM,259700,OMIM:259700,1,TCIRG1,"[ATP6N1C, ATP6V0A3, Atp6i, OC-116, OC116, T-cell immune response cDNA 7, TIRC7, V-ATPase subunit a3, a3]","T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",gene with protein product,11q13.2,The molecular basis of the disorder is known,Unknown,,604592,ENSG00000110719,objectId:825,Q13488,Q13488,HGNC:11647 +GARD:0002594,Orphanet,2438,ORPHA:2438,1,HOXA13,,homeobox A13,gene with protein product,7p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301596],142959,ENSG00000106031,,P31271,,HGNC:5102 +GARD:0002599,Orphanet,899,ORPHA:899,14,POMGNT2,"[AGO61, FLJ14566, protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2]","protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",gene with protein product,3p22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22958903],614828,ENSG00000144647,,Q8NAT1,Q8NAT1,HGNC:25902 +GARD:0002599,Orphanet,899,ORPHA:899,14,COL4A1,,collagen type IV alpha 1 chain,gene with protein product,13q34,Disease-causing germline mutation(s) in,Assessed,[PMID:21625620],120130,ENSG00000187498,,P02462,P02462,HGNC:2202 +GARD:0002599,Orphanet,899,ORPHA:899,14,B3GALNT2,[MGC39558],"beta-1,3-N-acetylgalactosaminyltransferase 2",gene with protein product,1q42.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23453667],610194,ENSG00000162885,,Q8NCR0,Q8NCR0,HGNC:28596 +GARD:0002599,Orphanet,899,ORPHA:899,14,RXYLT1,[HP10481],ribitol xylosyltransferase 1,gene with protein product,12q14.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23217329, PMID:23519211]",605862,ENSG00000118600,,Q9Y2B1,Q9Y2B1,HGNC:13530 +GARD:0002599,Orphanet,899,ORPHA:899,14,FKRP,"[FKTR, LGMD2I, MDC1C]",fukutin related protein,gene with protein product,19q13.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20236121],606596,ENSG00000181027,,Q9H9S5,,HGNC:17997 +GARD:0002599,Orphanet,899,ORPHA:899,14,POMGNT1,"[FLJ20277, LGMD2O, MGAT1.2, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase]","protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19299310],606822,ENSG00000085998,,Q8WZA1,Q8WZA1,HGNC:19139 +GARD:0002599,Orphanet,899,ORPHA:899,14,B4GAT1,"[B3GN-T1, BETA3GNTI, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase, iGAT, iGNT, iGnT]","beta-1,4-glucuronyltransferase 1",gene with protein product,11q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23359570],605517,ENSG00000174684,,O43505,O43505,HGNC:15685 +GARD:0002599,Orphanet,899,ORPHA:899,14,POMK,"[FLJ23356, SGK196, SgK196]",protein O-mannose kinase,gene with protein product,8p11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23519211],615247,ENSG00000185900,,Q9H5K3,Q9H5K3,HGNC:26267 +GARD:0002599,Orphanet,899,ORPHA:899,14,CRPPA,"[4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis), D-ribitol-5-phosphate cytidylyltransferase, IspD, Nip, Notch1-induced protein, hCG_1745121, notch1-induced protein]",CDP-L-ribitol pyrophosphorylase A,gene with protein product,7p21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22522420],614631,ENSG00000214960,,A4D126,,HGNC:37276 +GARD:0002599,Orphanet,899,ORPHA:899,14,POMT2,"[Dolichyl-phosphate-mannose--protein mannosyltransferase, LGMD2N]",protein O-mannosyltransferase 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19880378],607439,ENSG00000009830,,Q9UKY4,Q9UKY4,HGNC:19743 +GARD:0002599,Orphanet,899,ORPHA:899,14,DAG1,"[156DAG, A3a, AGRNR, DAG, alpha-dystroglycan, beta-dystroglycan, dystrophin-associated glycoprotein-1]",dystroglycan 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25934851],128239,ENSG00000173402,,Q14118,Q14118,HGNC:2666 +GARD:0002599,Orphanet,899,ORPHA:899,14,FKTN,[LGMD2M],fukutin,gene with protein product,9q31.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:17878207, PMID:18177472]",607440,ENSG00000106692,,O75072,,HGNC:3622 +GARD:0002599,Orphanet,899,ORPHA:899,14,POMT1,"[LGMD2K, dolichyl-phosphate-mannose-protein mannosyltransferase]",protein O-mannosyltransferase 1,gene with protein product,9q34.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19880378],607423,ENSG00000130714,,Q9Y6A1,Q9Y6A1,HGNC:9202 +GARD:0002599,Orphanet,899,ORPHA:899,14,LARGE1,"[KIAA0609, like-acetylglucosaminyltransferase]",LARGE xylosyl- and glucuronyltransferase 1,gene with protein product,22q12.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19299310, PMID:21727005]",603590,ENSG00000133424,,O95461,O95461,HGNC:6511 +GARD:0002610,Orphanet+OMIM,604559,OMIM:604559,1,TRPM4,[FLJ20041],transient receptor potential cation channel subfamily M member 4,gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,606936,ENSG00000130529,objectId:496,Q8TD43,Q8TD43,HGNC:17993 +GARD:0002621,Orphanet,3377,ORPHA:3377,1,MYH8,"[MyHC-peri, MyHC-pn]",myosin heavy chain 8,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17041932, PMID:18049072]",160741,ENSG00000133020,,P13535,P13535,HGNC:7578 +GARD:0002630,Orphanet,2128,ORPHA:2128,3,IGF2,"[FLJ44734, IGF-II, preptin, somatomedin A]",insulin like growth factor 2,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:18159214],147470,ENSG00000167244,,P01344,P01344,HGNC:5466 +GARD:0002630,Orphanet,2128,ORPHA:2128,3,H19,"[ASM, ASM1, D11S813E, LINC00008, MIR675 host gene, MIR675HG, NCRNA00008, adult skeletal muscle, long intergenic non-protein coding RNA 8, non-protein coding RNA 8]",H19 imprinted maternally expressed transcript,Non-coding RNA,11p15.5,Disease-causing germline mutation(s) in,Assessed,"[PMID:15651076, PMID:16532391, PMID:18159214]",103280,ENSG00000130600,,,,HGNC:4713 +GARD:0002630,Orphanet,2128,ORPHA:2128,3,KCNQ1OT1,"[KCNQ1 antisense RNA 2 (non-protein coding), KCNQ1 overlapping transcript 1 (non-protein coding), KCNQ1-AS2, KvDMR1, KvLQT1-AS, LIT1, NCRNA00012, non-protein coding RNA 12]",KCNQ1 opposite strand/antisense transcript 1,Non-coding RNA,11p15.5,Disease-causing germline mutation(s) in,Assessed,"[PMID:15651076, PMID:16770802]",604115,ENSG00000269821,,,,HGNC:6295 +GARD:0002637,Orphanet,99802,ORPHA:99802,2,AKT3,"[PKBG, PRKBG, RAC-gamma, protein kinase B, gamma]",AKT serine/threonine kinase 3,gene with protein product,1q43-q44,Disease-causing somatic mutation(s) in,Assessed,[PMID:22500628],611223,ENSG00000117020,2286,Q9Y243,Q9Y243,HGNC:393 +GARD:0002637,Orphanet,99802,ORPHA:99802,2,PIK3CA,[PI3K],"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",gene with protein product,3q26.32,Disease-causing somatic mutation(s) in,Assessed,[PMID:22729223],171834,ENSG00000121879,2153,P42336,P42336,HGNC:8975 +GARD:0002638,Orphanet+OMIM,141500,OMIM:141500,1,CACNA1A,"[APCA, Cav2.1, EA2, FHM, HPCA]",calcium voltage-gated channel subunit alpha1 A,gene with protein product,19p13.13,The molecular basis of the disorder is known,Unknown,,601011,ENSG00000141837,objectId:532,O00555,O00555,HGNC:1388 +GARD:0002640,Orphanet,2132,ORPHA:2132,1,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:21886666],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0002641,Orphanet,2133,ORPHA:2133,1,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:21886666],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0002658,Orphanet,882,ORPHA:882,1,FAH,[fumarylacetoacetase],fumarylacetoacetate hydrolase,gene with protein product,15q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301688],613871,ENSG00000103876,,P16930,P16930,HGNC:3579 +GARD:0002659,Orphanet,621,ORPHA:621,2,CYB5A,,cytochrome b5 type A,gene with protein product,18q22.3,Candidate gene tested in,Not yet assessed,,613218,ENSG00000166347,,P00167,P00167,HGNC:2570 +GARD:0002659,Orphanet,621,ORPHA:621,2,CYB5R3,[NADH-cytochrome b5 reductase 3],cytochrome b5 reductase 3,gene with protein product,22q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:18202104, PMID:18820099]",613213,ENSG00000100243,,P00387,P00387,HGNC:2873 +GARD:0002684,Orphanet,483,ORPHA:483,1,KNG1,"[BK, alpha-2-thiol proteinase inhibitor, bradykinin]",kininogen 1,gene with protein product,3q27.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17522339],612358,ENSG00000113889,,P01042,P01042,HGNC:6383 +GARD:0002690,Orphanet,2114,ORPHA:2114,1,UFSP2,[FLJ11200],UFM1 specific peptidase 2,gene with protein product,4q35.1,Disease-causing germline mutation(s) in,Assessed,,611482,ENSG00000109775,,Q9NUQ7,,HGNC:25640 +GARD:0002695,Orphanet,2151,ORPHA:2151,1,PHOX2B,"[NBPhox, Phox2b]",paired like homeobox 2B,gene with protein product,4p13,Major susceptibility factor in,Assessed,"[PMID:15024693, PMID:26011159, PMID:28371199]",603851,ENSG00000109132,,Q99453,,HGNC:9143 +GARD:0002712,Orphanet,35701,ORPHA:35701,1,HMGCS2,,3-hydroxy-3-methylglutaryl-CoA synthase 2,gene with protein product,1p12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:11479731, PMID:23751782]",600234,ENSG00000134240,2432,P54868,P54868,HGNC:5008 +GARD:0002721,Orphanet,79242,ORPHA:79242,1,HLCS,[HCS],holocarboxylase synthetase,gene with protein product,21q22.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:16134170],609018,ENSG00000159267,,P50747,P50747,HGNC:4976 +GARD:0002725,Orphanet,2117,ORPHA:2117,1,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23812909],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0002734,Orphanet,395,ORPHA:395,1,MTHFR,,methylenetetrahydrofolate reductase,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,,607093,ENSG00000177000,,P42898,P42898,HGNC:7436 +GARD:0002788,Orphanet,343,ORPHA:343,1,MVK,"[LH receptor mRNA-binding protein, LRBP, MK, mevalonic aciduria]",mevalonate kinase,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:10369262, PMID:11313769]",251170,ENSG00000110921,640,Q03426,Q03426,HGNC:7530 +GARD:0002789,Orphanet,404,ORPHA:404,1,CLCN2,"[CLC2, ClC-2, EJM6]",chloride voltage-gated channel 2,gene with protein product,3q27.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29403011],600570,ENSG00000114859,699,P51788,P51788,HGNC:2020 +GARD:0002790,Orphanet,403,ORPHA:403,2,CYP11B2,"[ALDOS, CPN2, CYP11BL, P-450C18, P450aldo, steroid 11-beta-monooxygenase]",cytochrome P450 family 11 subfamily B member 2,gene with protein product,8q24.3,Part of a fusion gene in,Assessed,"[PMID:20634641, PMID:24817817]",124080,ENSG00000179142,1360,P19099,P19099,HGNC:2592 +GARD:0002790,Orphanet,403,ORPHA:403,2,CYP11B1,"[CPN1, FHI, P450C11, steroid 11-beta-monooxygenase]",cytochrome P450 family 11 subfamily B member 1,gene with protein product,8q24.3,Part of a fusion gene in,Assessed,"[PMID:20634641, PMID:24817817]",610613,ENSG00000160882,1359,P15538,P15538,HGNC:2591 +GARD:0002791,Orphanet,2312,ORPHA:2312,1,UGT1A1,[UGT1A],UDP glucuronosyltransferase family 1 member A1,gene with protein product,2q37.1,Candidate gene tested in,Not yet assessed,[PMID:23014115],191740,ENSG00000241635,2990,P22309,P22309,HGNC:12530 +GARD:0002793,Orphanet,234,ORPHA:234,1,ABCC2,"[DJS, MRP2, cMRP]",ATP binding cassette subfamily C member 2,gene with protein product,10q24.2,Disease-causing germline mutation(s) in,Assessed,,601107,ENSG00000023839,780,Q92887,Q92887,HGNC:53 +GARD:0002796,Orphanet,93372,ORPHA:93372,1,CASR,"[FHH, GPRC2A, NSHPT, severe neonatal hyperparathyroidism]",calcium sensing receptor,gene with protein product,3q13.33-q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,,601199,ENSG00000036828,54,P41180,P41180,HGNC:1514 +GARD:0002806,Orphanet,163,ORPHA:163,1,FTL,"[L apoferritin, MGC71996, NBIA3, ferritin L subunit, ferritin L-chain, ferritin light polypeptide-like 3, neurodegeneration with brain iron accumulation 3]",ferritin light chain,gene with protein product,19q13.33,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:10759702],134790,ENSG00000087086,,P02792,P02792,HGNC:3999 +GARD:0002816,Orphanet,217390,ORPHA:217390,1,DOCK8,"[FLJ00026, FLJ00152, FLJ00346, ZIR8]",dedicator of cytokinesis 8,gene with protein product,9p24.3,Disease-causing germline mutation(s) in,Assessed,,611432,ENSG00000107099,,Q8NF50,Q8NF50,HGNC:19191 +GARD:0002818,Orphanet,79299,ORPHA:79299,1,GCK,"[HK4, hexokinase 4]",glucokinase,gene with protein product,7p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:25733449, PMID:9435328]",138079,ENSG00000106633,2798,P35557,P35557,HGNC:4195 +GARD:0002826,Orphanet,2199,ORPHA:2199,3,KRT9,"[CK-9, EPPK, K9, cytokeratin 9, epidermolytic palmoplantar keratoderma, type I cytoskeletal 9]",keratin 9,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:12072061, PMID:12192490, PMID:23397986, PMID:24899405]",607606,ENSG00000171403,,P35527,P35527,HGNC:6447 +GARD:0002826,Orphanet,2199,ORPHA:2199,3,KRT16,"[NEPPK, focal non-epidermolytic palmoplantar keratoderma]",keratin 16,gene with protein product,17q21.2,Candidate gene tested in,Assessed,[PMID:8595410],148067,ENSG00000186832,,P08779,P08779,HGNC:6423 +GARD:0002826,Orphanet,2199,ORPHA:2199,3,KRT1,[KRT1A],keratin 1,gene with protein product,12q13.13,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:16439967],139350,ENSG00000167768,,P04264,P04264,HGNC:6412 +GARD:0002828,Orphanet,2203,ORPHA:2203,1,AASS,"[LKRSDH, LORSDH, alpha-aminoadipic semialdehyde synthase, lysine ketoglutarate reductase/saccharopine dehydrogenase]",aminoadipate-semialdehyde synthase,gene with protein product,7q31.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:10775527, PMID:23570448, PMID:23890588]",605113,ENSG00000008311,,Q9UDR5,Q9UDR5,HGNC:17366 +GARD:0002830,Orphanet,415,ORPHA:415,1,SLC25A15,"[D13S327, ORC1, ornithine carrier 1, ornithine transporter 1]",solute carrier family 25 member 15,gene with protein product,13q14.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22649802],603861,ENSG00000102743,1060,Q9Y619,Q9Y619,HGNC:10985 +GARD:0002831,Orphanet,2801,ORPHA:2801,2,TNFRSF11A,"[CD265, FEO, ODFR, RANK, TRANCE receptor, TRANCE-R, familial expansile osteolysis, osteoclast differentiation factor receptor, receptor activator of nuclear factor kappa B]",TNF receptor superfamily member 11a,gene with protein product,18q21.33,Candidate gene tested in,Not yet assessed,[PMID:25063546],603499,ENSG00000141655,1881,Q9Y6Q6,Q9Y6Q6,HGNC:11908 +GARD:0002831,Orphanet,2801,ORPHA:2801,2,TNFRSF11B,"[OCIF, TR1, osteoclastogenesis inhibitory factor]",TNF receptor superfamily member 11b,gene with protein product,8q24.12,Disease-causing germline mutation(s) in,Assessed,[PMID:12124406],602643,ENSG00000164761,1882,O00300,O00300,HGNC:11909 +GARD:0002833,Orphanet,3416,ORPHA:3416,2,LRP5,"[BMND1, EVR4, HBM, LR3, OPS, OPTA1, VBCH2]",LDL receptor related protein 5,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:12579474],603506,ENSG00000162337,,O75197,O75197,HGNC:6697 +GARD:0002833,Orphanet,3416,ORPHA:3416,2,SOST,"[DAND6, VBCH]",sclerostin,gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:11836356, PMID:20301406]",605740,ENSG00000167941,,Q9BQB4,Q9BQB4,HGNC:13771 +GARD:0002835,Orphanet,93598,ORPHA:93598,1,AGXT,"[AGT, AGT1, AGXT1, L-alanine: glyoxylate aminotransferase 1, PH1, SPT, glycolicaciduria, oxalosis I, primary hyperoxaluria type 1, serine:pyruvate aminotransferase]",alanine--glyoxylate and serine--pyruvate aminotransferase,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,,604285,ENSG00000172482,,P21549,P21549,HGNC:341 +GARD:0002836,Orphanet,93599,ORPHA:93599,1,GRHPR,"[PH2, primary hyperoxaluria type 2]",glyoxylate and hydroxypyruvate reductase,gene with protein product,9p13.2,Disease-causing germline mutation(s) in,Assessed,,604296,ENSG00000137106,,Q9UBQ7,Q9UBQ7,HGNC:4570 +GARD:0002838,Orphanet,417,ORPHA:417,2,CASR,"[FHH, GPRC2A, NSHPT, severe neonatal hyperparathyroidism]",calcium sensing receptor,gene with protein product,3q13.33-q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,,601199,ENSG00000036828,54,P41180,P41180,HGNC:1514 +GARD:0002838,Orphanet,417,ORPHA:417,2,TRPV6,[CaT1],transient receptor potential cation channel subfamily V member 6,gene with protein product,7q34,Disease-causing germline mutation(s) in,Assessed,[PMID:29861107],606680,ENSG00000165125,512,Q9H1D0,,HGNC:14006 +GARD:0002843,Orphanet,1578,ORPHA:1578,1,PCBD1,"[PCD, Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha), dimerizing cofactor for HNF1, pterin-4-alpha carbinolamine dehydratase]",pterin-4 alpha-carbinolamine dehydratase 1,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:9760199],126090,ENSG00000166228,,P61457,P61457,HGNC:8646 +GARD:0002844,Orphanet,2102,ORPHA:2102,1,GCH1,"[DYT5a, GTP cyclohydrolase I, GTPCH1, dopa-responsive dystonia]",GTP cyclohydrolase 1,gene with protein product,14q22.2,Disease-causing germline mutation(s) in,Assessed,,600225,ENSG00000131979,,P30793,P30793,HGNC:4193 +GARD:0002847,Orphanet,419,ORPHA:419,1,PRODH,"[HSPOX2, PIG6, PRODH1, PRODH2, TP53I6, proline oxidase]",proline dehydrogenase 1,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:20524212, PMID:23462603]",606810,ENSG00000100033,,O43272,O43272,HGNC:9453 +GARD:0002858,Orphanet,424,ORPHA:424,1,TSHR,[LGR3],thyroid stimulating hormone receptor,gene with protein product,14q24-q31,Disease-causing germline mutation(s) in,Assessed,"[PMID:23295291, PMID:24947036]",603372,ENSG00000165409,255,P16473,P16473,HGNC:12373 +GARD:0002863,Orphanet,79495,ORPHA:79495,1,SOX3,,SRY-box transcription factor 3,gene with protein product,Xq27.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21636067],313430,ENSG00000134595,,P41225,P41225,HGNC:11199 +GARD:0002871,Orphanet,2224,ORPHA:2224,1,TDO2,"[TDO, TPH2]","tryptophan 2,3-dioxygenase",gene with protein product,4q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28285122],191070,ENSG00000151790,2887,P48775,P48775,HGNC:11708 +GARD:0002872,Orphanet,425,ORPHA:425,2,APOA1,,apolipoprotein A1,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:8240372, PMID:8282791]",107680,ENSG00000118137,,P02647,P02647,HGNC:600 +GARD:0002872,Orphanet,425,ORPHA:425,2,ABCA1,"[TGD, Tangier disease]",ATP binding cassette subfamily A member 1,gene with protein product,9q31.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15158913, PMID:22959828]",600046,ENSG00000165029,756,O95477,O95477,HGNC:29 +GARD:0002876,Orphanet+OMIM,615558,OMIM:615558,1,APOB,,apolipoprotein B,gene with protein product,2p24.1,The molecular basis of the disorder is known,Unknown,,107730,ENSG00000084674,,P04114,P04114,HGNC:603 +GARD:0002877,Orphanet,428,ORPHA:428,2,GNA11,"[FBH, FBH2, FHH2]",G protein subunit alpha 11,gene with protein product,19p13.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23802516],139313,ENSG00000088256,,P29992,P29992,HGNC:4379 +GARD:0002877,Orphanet,428,ORPHA:428,2,CASR,"[FHH, GPRC2A, NSHPT, severe neonatal hyperparathyroidism]",calcium sensing receptor,gene with protein product,3q13.33-q21.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:12733714, PMID:22789683, PMID:9920108]",601199,ENSG00000036828,54,P41180,P41180,HGNC:1514 +GARD:0002878,Orphanet,101050,ORPHA:101050,1,AP2S1,"[FBH3, FBHOk, sigma-2]",adaptor related protein complex 2 subunit sigma 1,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:23222959],602242,ENSG00000042753,,P53680,P53680,HGNC:565 +GARD:0002887,Orphanet,101041,ORPHA:101041,3,FGB,,fibrinogen beta chain,gene with protein product,4q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17295221],134830,ENSG00000171564,,P02675,P02675,HGNC:3662 +GARD:0002887,Orphanet,101041,ORPHA:101041,3,FGA,,fibrinogen alpha chain,gene with protein product,4q31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:17295221, PMID:18676163]",134820,ENSG00000171560,,P02671,P02671,HGNC:3661 +GARD:0002887,Orphanet,101041,ORPHA:101041,3,FGG,,fibrinogen gamma chain,gene with protein product,4q32.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17295221, PMID:18676163]",134850,ENSG00000171557,,P02679,P02679,HGNC:3694 +GARD:0002897,Orphanet+OMIM,146110,OMIM:146110,1,GNRHR,[LHRHR],gonadotropin releasing hormone receptor,gene with protein product,4q13.2,The molecular basis of the disorder is known,Unknown,,138850,ENSG00000109163,objectId:256,P30968,P30968,HGNC:4421 +GARD:0002905,Orphanet,154,ORPHA:154,47,DMD,"[BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, muscular dystrophy, Duchenne and Becker types]",dystrophin,gene with protein product,Xp21.2-p21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:14567970, PMID:20301486]",300377,ENSG00000198947,,P11532,P11532,HGNC:2928 +GARD:0002905,Orphanet,154,ORPHA:154,47,CRYAB,[HSPB5],crystallin alpha B,gene with protein product,11q23.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:16483541, PMID:16793013]",123590,ENSG00000109846,,P02511,P02511,HGNC:2389 +GARD:0002905,Orphanet,154,ORPHA:154,47,TNNT2,[CMPD2],"troponin T2, cardiac type",gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:11684629, PMID:15542288, PMID:20301486]",191045,ENSG00000118194,,P45379,P45379,HGNC:11949 +GARD:0002905,Orphanet,154,ORPHA:154,47,LDB3,"[KIAA0613, PDLIM6, Z-band alternatively spliced PDZ motif protein, ZASP, cypher, oracle]",LIM domain binding 3,gene with protein product,10q23.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:14660611, PMID:14662268, PMID:20301486]",605906,ENSG00000122367,,O75112,,HGNC:15710 +GARD:0002905,Orphanet,154,ORPHA:154,47,TMPO,"[LAP2, LEM domain containing 4, LEMD4, TP]",thymopoietin,gene with protein product,12q23.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:16247757, PMID:20301486]",188380,ENSG00000120802,,P42166; P42167,P42167,HGNC:11875 +GARD:0002905,Orphanet,154,ORPHA:154,47,TAFAZZIN,"[BTHS, Barth syndrome, G4.5, TAZ1, XAP-2, transcriptional coactivator with PDZ-binding motif]","tafazzin, phospholipid-lysophospholipid transacylase",gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301486, PMID:7616547, PMID:9382096]",300394,ENSG00000102125,,Q16635,Q16635,HGNC:11577 +GARD:0002905,Orphanet,154,ORPHA:154,47,PRDM16,"[KIAA1675, KMT8F, MDS1/EVI1-like, MEL1, MGC166915, PFM13, PR-domain zinc finger protein 16, Transcription factor MEL1, transcription factor MEL1]",PR/SET domain 16,gene with protein product,1p36.32,Disease-causing germline mutation(s) in,Assessed,[PMID:23768516],605557,ENSG00000142611,,Q9HAZ2,Q9HAZ2,HGNC:14000 +GARD:0002905,Orphanet,154,ORPHA:154,47,DSP,"[DPI, DPII, KPPS2, PPKS2]",desmoplakin,gene with protein product,6p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30993396],125647,ENSG00000096696,,P15924,P15924,HGNC:3052 +GARD:0002905,Orphanet,154,ORPHA:154,47,DSG2,[CDHF5],desmoglein 2,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18678517, PMID:20301486]",125671,ENSG00000046604,,Q14126,Q14126,HGNC:3049 +GARD:0002905,Orphanet,154,ORPHA:154,47,TNNC1,,"troponin C1, slow skeletal and cardiac type",gene with protein product,3p21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15542288, PMID:20301486]",191040,ENSG00000114854,,P63316,P63316,HGNC:11943 +GARD:0002905,Orphanet,154,ORPHA:154,47,ACTC1,[CMD1R],actin alpha cardiac muscle 1,gene with protein product,15q14,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301486, PMID:9563954]",102540,ENSG00000159251,,P68032,P68032,HGNC:143 +GARD:0002905,Orphanet,154,ORPHA:154,47,RBM20,,RNA binding motif protein 20,gene with protein product,10q25.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:19712804, PMID:20301486]",613171,ENSG00000203867,,Q5T481,,HGNC:27424 +GARD:0002905,Orphanet,154,ORPHA:154,47,FHL2,"[DRAL, SLIM3]",four and a half LIM domains 2,gene with protein product,2q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17416352],602633,ENSG00000115641,,Q14192,Q14192,HGNC:3703 +GARD:0002905,Orphanet,154,ORPHA:154,47,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:24846508],150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0002905,Orphanet,154,ORPHA:154,47,CAP2,,cyclase associated actin cytoskeleton regulatory protein 2,gene with protein product,6p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30518548],618385,ENSG00000112186,,P40123,P40123,HGNC:20039 +GARD:0002905,Orphanet,154,ORPHA:154,47,LAMA4,[LAMA3],laminin subunit alpha 4,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,[PMID:17646580],600133,ENSG00000112769,,Q16363,Q16363,HGNC:6484 +GARD:0002905,Orphanet,154,ORPHA:154,47,PSEN2,"[AD3L, PS2, STM2]",presenilin 2,gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:17186461, PMID:20301486]",600759,ENSG00000143801,2403,P49810,P49810,HGNC:9509 +GARD:0002905,Orphanet,154,ORPHA:154,47,PSEN1,"[FAD, PS1, S182]",presenilin 1,gene with protein product,14q24.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:17186461, PMID:20301486]",104311,ENSG00000080815,2402,P49768,P49768,HGNC:9508 +GARD:0002905,Orphanet,154,ORPHA:154,47,TTN,"[CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD]",titin,gene with protein product,2q31.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:11788824, PMID:20301486]",188840,ENSG00000155657,2265,Q8WZ42,Q8WZ42,HGNC:12403 +GARD:0002905,Orphanet,154,ORPHA:154,47,SGCD,"[CMD1L, DAGD, LGMD2F]",sarcoglycan delta,gene with protein product,5q33.2-q33.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:10974018, PMID:20301486]",601411,ENSG00000170624,,Q92629,,HGNC:10807 +GARD:0002905,Orphanet,154,ORPHA:154,47,TCAP,"[19 kDa sarcomeric protein, CMD1N, T-cap, TELE, telethonin, teneurin C-terminal associated peptide]",titin-cap,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:15582318, PMID:19412328, PMID:20301486]",604488,ENSG00000173991,,O15273,O15273,HGNC:11610 +GARD:0002905,Orphanet,154,ORPHA:154,47,ABCC9,"[CMD1O, SUR2, sulfonylurea receptor 2]",ATP binding cassette subfamily C member 9,gene with protein product,12p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:15034580],601439,ENSG00000069431,2746,O60706,O60706,HGNC:60 +GARD:0002905,Orphanet,154,ORPHA:154,47,BAG5,,BAG cochaperone 5,gene with protein product,14q32.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:35044787],,,,,,HGNC:941 +GARD:0002905,Orphanet,154,ORPHA:154,47,RAF1,"[C-Raf proto-oncogene, serine/threonine kinase, CRAF, Raf-1, c-Raf]","Raf-1 proto-oncogene, serine/threonine kinase",gene with protein product,3p25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24777450],164760,ENSG00000132155,2184,P04049,P04049,HGNC:9829 +GARD:0002905,Orphanet,154,ORPHA:154,47,BAG3,[BAG family molecular chaperone regulator 3],BAG cochaperone 3,gene with protein product,10q26.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301486, PMID:21353195]",603883,ENSG00000151929,,O95817,O95817,HGNC:939 +GARD:0002905,Orphanet,154,ORPHA:154,47,MYBPC3,"[FHC, MYBP-C, cMyBP-C]",myosin binding protein C3,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20215591, PMID:20301486]",600958,ENSG00000134571,2880,Q14896,Q14896,HGNC:7551 +GARD:0002905,Orphanet,154,ORPHA:154,47,TPM1,,tropomyosin 1,gene with protein product,15q22.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:11273725, PMID:20301486]",191010,ENSG00000140416,,P09493,P09493,HGNC:12010 +GARD:0002905,Orphanet,154,ORPHA:154,47,DOLK,"[DK1, KIAA1094, dolichol kinase 1]",dolichol kinase,gene with protein product,9q34.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22242004],610746,ENSG00000175283,,Q9UPQ8,Q9UPQ8,HGNC:23406 +GARD:0002905,Orphanet,154,ORPHA:154,47,SCN5A,"[CDCD2, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, long QT syndrome 3]",sodium voltage-gated channel alpha subunit 5,gene with protein product,3p22.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:15466643, PMID:20301486, PMID:22766342]",600163,ENSG00000183873,582,Q14524,Q14524,HGNC:10593 +GARD:0002905,Orphanet,154,ORPHA:154,47,TXNRD2,"[SELZ, Selenoprotein Z, TR, TR3, TRXR2, Thioredoxin reductase beta, selenoprotein Z, thioredoxin reductase beta]",thioredoxin reductase 2,gene with protein product,22q11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21247928],606448,ENSG00000184470,,Q9NNW7,Q9NNW7,HGNC:18155 +GARD:0002905,Orphanet,154,ORPHA:154,47,PLN,[CMD1P],phospholamban,gene with protein product,6q22.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:12610310, PMID:20301486]",172405,ENSG00000198523,,P26678,P26678,HGNC:9080 +GARD:0002905,Orphanet,154,ORPHA:154,47,MYPN,"['sarcomeric protein myopalladin, 145 kDa', MYOP, Sarcomeric protein myopalladin, 145 kDa]",myopalladin,gene with protein product,10q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:18006477, PMID:22892539]",608517,ENSG00000138347,,Q86TC9,,HGNC:23246 +GARD:0002905,Orphanet,154,ORPHA:154,47,HAND2,"[Hed, Thing2, bHLHa26, dHand]",heart and neural crest derivatives expressed 2,gene with protein product,4q34.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30217752],602407,ENSG00000164107,,P61296,,HGNC:4808 +GARD:0002905,Orphanet,154,ORPHA:154,47,TNNI3,"[CMH7, TNNC1]","troponin I3, cardiac type",gene with protein product,19q13.42,Disease-causing germline mutation(s) in,Assessed,"[PMID:15070570, PMID:19590045, PMID:20301486]",191044,ENSG00000129991,,P19429,P19429,HGNC:11947 +GARD:0002905,Orphanet,154,ORPHA:154,47,PPCS,[FLJ11838],phosphopantothenoylcysteine synthetase,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:29754768],609853,ENSG00000127125,,Q9HAB8,Q9HAB8,HGNC:25686 +GARD:0002905,Orphanet,154,ORPHA:154,47,TAF1A,"[SL1, TAFI48]","TATA-box binding protein associated factor, RNA polymerase I subunit A",gene with protein product,1q41,Disease-causing germline mutation(s) in,Assessed,[PMID:28472305],604903,ENSG00000143498,,Q15573,Q15573,HGNC:11532 +GARD:0002905,Orphanet,154,ORPHA:154,47,GATAD1,"[FLJ22489, ODAG, Ocular development associated gene, RG083M05.2, ocular development associated gene]",GATA zinc finger domain containing 1,gene with protein product,7q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21965549],614518,ENSG00000157259,,Q8WUU5,Q8WUU5,HGNC:29941 +GARD:0002905,Orphanet,154,ORPHA:154,47,MYH7,[CMD1S],myosin heavy chain 7,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:11106718, PMID:20301486]",160760,ENSG00000092054,,P12883,P12883,HGNC:7577 +GARD:0002905,Orphanet,154,ORPHA:154,47,CSRP3,"[CLP, CMD1M, MLP, cardiac LIM protein, muscle LIM protein]",cysteine and glycine rich protein 3,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:14567970, PMID:20301486]",600824,ENSG00000129170,,P50461,,HGNC:2472 +GARD:0002905,Orphanet,154,ORPHA:154,47,SDHA,"[FP, SDHF, flavoprotein subunit of complex II, succinate dehydrogenase [ubiquinone] flavoprotein subunit]",succinate dehydrogenase complex flavoprotein subunit A,gene with protein product,5p15.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20551992],600857,ENSG00000073578,,P31040,P31040,HGNC:10680 +GARD:0002905,Orphanet,154,ORPHA:154,47,NEXN,"[NELIN, nexilin]",nexilin F-actin binding protein,gene with protein product,1p31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19881492, PMID:20301486]",613121,ENSG00000162614,,Q0ZGT2,,HGNC:29557 +GARD:0002905,Orphanet,154,ORPHA:154,47,MYH6,"[cardiomyopathy, hypertrophic 1]",myosin heavy chain 6,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15998695, PMID:20215591, PMID:20301486]",160710,ENSG00000197616,,P13533,P13533,HGNC:7576 +GARD:0002905,Orphanet,154,ORPHA:154,47,FKTN,[LGMD2M],fukutin,gene with protein product,9q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17036286],607440,ENSG00000106692,,O75072,,HGNC:3622 +GARD:0002905,Orphanet,154,ORPHA:154,47,DES,"[CMD1I, CSM1, CSM2, intermediate filament protein]",desmin,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,"[PMID:10430757, PMID:20301486]",125660,ENSG00000175084,,P17661,P17661,HGNC:2770 +GARD:0002905,Orphanet,154,ORPHA:154,47,ACTN2,,actinin alpha 2,gene with protein product,1q43,Disease-causing germline mutation(s) in,Assessed,"[PMID:14567970, PMID:20301486, PMID:25224718]",102573,ENSG00000077522,,P35609,P35609,HGNC:164 +GARD:0002905,Orphanet,154,ORPHA:154,47,ANKRD1,"[ALRP, C-193, CARP, CVARP, MCARP]",ankyrin repeat domain 1,gene with protein product,10q23.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:19525294, PMID:20301486]",609599,ENSG00000148677,,Q15327,Q15327,HGNC:15819 +GARD:0002905,Orphanet,154,ORPHA:154,47,VCL,"[Metavinculin, metavinculin]",vinculin,gene with protein product,10q22.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:11815424, PMID:20301486]",193065,ENSG00000035403,,P18206,P18206,HGNC:12665 +GARD:0002906,Orphanet,31043,ORPHA:31043,1,CLDN16,"[HOMG3, PCLN1, hypomagnesemia 3, with hypercalciuria and nephrocalcinosis, paracellin-1]",claudin 16,gene with protein product,3q28,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10878661, PMID:11518780, PMID:18816383]",603959,ENSG00000113946,,Q9Y5I7,Q9Y5I7,HGNC:2037 +GARD:0002911,Orphanet,2237,ORPHA:2237,1,GATA3,[HDR],GATA binding protein 3,gene with protein product,10p14,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10935639, PMID:21120445, PMID:23757620]",131320,ENSG00000107485,,P23771,P23771,HGNC:4172 +GARD:0002914,Orphanet+OMIM,307700,OMIM:307700,1,HPT,"[HPTX, HYPX]",Hypoparathyroidism,,Xq27.1,The disorder is a chromosome deletion or duplication syndrome,Unknown,,307700,,,,,OMIM:307700 +GARD:0002926,Orphanet,325,ORPHA:325,1,F2,[prepro-coagulation factor II],"coagulation factor II, thrombin",gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301327, PMID:23852823, PMID:25242243]",176930,ENSG00000180210,2362,P00734,P00734,HGNC:3535 +GARD:0002930,Orphanet,2353,ORPHA:2353,1,PTCH1,[BCNS],patched 1,gene with protein product,9q22.32,Role in the phenotype of,Assessed,[PMID:30936464],601309,ENSG00000185920,,Q13635,Q13635,HGNC:9585 +GARD:0002945,Orphanet,2268,ORPHA:2268,4,ZBTB24,"[BIF1, KIAA0441, PATZ2, POZ (BTB) and AT hook containing zinc finger 2]",zinc finger and BTB domain containing 24,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,[PMID:21906047],614064,ENSG00000112365,,O43167,O43167,HGNC:21143 +GARD:0002945,Orphanet,2268,ORPHA:2268,4,DNMT3B,,DNA methyltransferase 3 beta,gene with protein product,20q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:10588719],602900,ENSG00000088305,,Q9UBC3,Q9UBC3,HGNC:2979 +GARD:0002945,Orphanet,2268,ORPHA:2268,4,HELLS,"[LSH, Nbla10143, PASG, SMARCA6, SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6, proliferation-associated SNF2-like protein]","helicase, lymphoid specific",gene with protein product,10q23.33,Disease-causing germline mutation(s) in,Assessed,[PMID:26216346],603946,ENSG00000119969,,Q9NRZ9,Q9NRZ9,HGNC:4861 +GARD:0002945,Orphanet,2268,ORPHA:2268,4,CDCA7,"[FLJ14736, JPO1]",cell division cycle associated 7,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26216346],609937,ENSG00000144354,,Q9BWT1,,HGNC:14628 +GARD:0002946,Orphanet+OMIM,242150,OMIM:242150,1,AP1B1,"[AP105A, BAM22]",adaptor related protein complex 1 subunit beta 1,gene with protein product,22q12.2,The molecular basis of the disorder is known,Unknown,,600157,ENSG00000100280,,Q10567,Q10567,HGNC:554 +GARD:0002952,Orphanet,2273,ORPHA:2273,1,MBTPS2,"[S2P, site-2 protease]","membrane bound transcription factor peptidase, site 2",gene with protein product,Xp22.12,Disease-causing germline mutation(s) in,Assessed,[PMID:21600032],300294,ENSG00000012174,,O43462,O43462,HGNC:15455 +GARD:0002954,Orphanet,79503,ORPHA:79503,1,KRT1,[KRT1A],keratin 1,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,,139350,ENSG00000167768,,P04264,P04264,HGNC:6412 +GARD:0002966,Orphanet,455,ORPHA:455,1,KRT2,"[KRTE, epidermal ichthyosis bullosa of Siemens]",keratin 2,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:15949009],600194,ENSG00000172867,,P35908,P35908,HGNC:6439 +GARD:0002978,Orphanet+OMIM,601631,OMIM:601631,1,FOXC1,"[ARA, FREAC3, IGDA, IHG1]",forkhead box C1,gene with protein product,6p25.3,The molecular basis of the disorder is known,Unknown,,601090,ENSG00000054598,,Q12948,,HGNC:3800 +GARD:0002998,Orphanet,2591,ORPHA:2591,2,NOTCH3,[CASIL],notch receptor 3,gene with protein product,19p13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:23731542],600276,ENSG00000074181,2860,Q9UM47,Q9UM47,HGNC:7883 +GARD:0002998,Orphanet,2591,ORPHA:2591,2,PDGFRB,"[CD140b, JTK12, PDGFR1]",platelet derived growth factor receptor beta,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,"[PMID:23731537, PMID:23731542]",173410,ENSG00000113721,1804,P09619,P09619,HGNC:8804 +GARD:0003006,Orphanet,642,ORPHA:642,1,NTRK1,"[MTC, TRK, TRKA, high affinity nerve growth factor receptor]",neurotrophic receptor tyrosine kinase 1,gene with protein product,1q23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301726],191315,ENSG00000198400,1817,P04629,P04629,HGNC:8031 +GARD:0003007,Orphanet,1052,ORPHA:1052,5,TRIP13,"[16E1BP, thyroid receptor interacting protein 13]",thyroid hormone receptor interactor 13,gene with protein product,5p15.33,Disease-causing germline mutation(s) in,Assessed,[PMID:28553959],604507,ENSG00000071539,,Q15645,Q15645,HGNC:12307 +GARD:0003007,Orphanet,1052,ORPHA:1052,5,BUB1,"[BUB1A, hBUB1]",BUB1 mitotic checkpoint serine/threonine kinase,gene with protein product,2q13,Disease-causing germline mutation(s) in,Assessed,[PMID:23747338],602452,ENSG00000169679,1949,O43683,O43683,HGNC:1148 +GARD:0003007,Orphanet,1052,ORPHA:1052,5,CEP57,"[KIAA0092, TSP57, Translokin]",centrosomal protein 57,gene with protein product,11q21,Disease-causing germline mutation(s) in,Assessed,"[PMID:21552266, PMID:24259107]",607951,ENSG00000166037,,Q86XR8,Q86XR8,HGNC:30794 +GARD:0003007,Orphanet,1052,ORPHA:1052,5,BUB3,[BUB3L],BUB3 mitotic checkpoint protein,gene with protein product,10q26.13,Disease-causing germline mutation(s) in,Assessed,[PMID:23747338],603719,ENSG00000154473,,O43684,O43684,HGNC:1151 +GARD:0003007,Orphanet,1052,ORPHA:1052,5,BUB1B,"[BUBR1, Bub1A, MAD3L, SSK1]",BUB1 mitotic checkpoint serine/threonine kinase B,gene with protein product,15q15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:15475955],602860,ENSG00000156970,1950,O60566,O60566,HGNC:1149 +GARD:0003008,Orphanet,2297,ORPHA:2297,1,INSR,[CD220],insulin receptor,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20339196, PMID:8288049]",147670,ENSG00000171105,1800,P06213,P06213,HGNC:6091 +GARD:0003010,Orphanet,97279,ORPHA:97279,2,YY1,"[DELTA, INO80 complex subunit S, INO80S, NF-E1, UCRBP, YIN-YANG-1, Yin and Yang 1 protein]",YY1 transcription factor,gene with protein product,14q32.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:24326773],600013,ENSG00000100811,,P25490,P25490,HGNC:12856 +GARD:0003010,Orphanet,97279,ORPHA:97279,2,MEN1,[menin],menin 1,gene with protein product,11q13,Major susceptibility factor in,Assessed,[PMID:26307114],613733,ENSG00000133895,,O00255,O00255,HGNC:7010 +GARD:0003013,Orphanet,2300,ORPHA:2300,1,TTC7A,[KIAA1140],tetratricopeptide repeat domain 7A,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,[PMID:23423984],609332,ENSG00000068724,,Q9ULT0,,HGNC:19750 +GARD:0003017,Orphanet+OMIM,300048,OMIM:300048,1,FLNA,"[ABP-280, actin binding protein 280, alpha filamin]",filamin A,gene with protein product,Xq28,The molecular basis of the disorder is known,Unknown,,300017,ENSG00000196924,,P21333,P21333,HGNC:3754 +GARD:0003024,Orphanet,332,ORPHA:332,1,CBLIF,"[IF, IFMH, INF, TCN3]",cobalamin binding intrinsic factor,gene with protein product,11q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:14695536],609342,ENSG00000134812,,P27352,P27352,HGNC:4268 +GARD:0003026,Orphanet+OMIM,137600,OMIM:137600,1,PITX2,"[ARP1, Brx1, IGDS, Otlx2, RS]",paired like homeodomain 2,gene with protein product,4q25,The molecular basis of the disorder is known,Unknown,,601542,ENSG00000164093,,Q99697,Q99697,HGNC:9005 +GARD:0003030,Orphanet,1509,ORPHA:1509,1,TBX4,,T-box transcription factor 4,gene with protein product,17q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:15106123],601719,ENSG00000121075,,P57082,,HGNC:11603 +GARD:0003045,Orphanet,228349,ORPHA:228349,1,TPP1,"[LPIC, TPP I, TPP-1, lysosomal pepstatin-insensitive carboxypeptidase]",tripeptidyl peptidase 1,gene with protein product,11p15.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21990111],607998,ENSG00000166340,,O14773,O14773,HGNC:2073 +GARD:0003047,Orphanet,93314,ORPHA:93314,1,TRPV4,"[CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2, VROAC, osmosensitive transient receptor potential channel 4]",transient receptor potential cation channel subfamily V member 4,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,[PMID:24830047],605427,ENSG00000111199,510,Q9HBA0,Q9HBA0,HGNC:18083 +GARD:0003048,Orphanet,90647,ORPHA:90647,2,KCNE1,"[ISK, IsK, JLNS2, Jervell and Lange-Nielsen syndrome 2, LQT5, Long QT syndrome 5, minK]",potassium voltage-gated channel subfamily E regulatory subunit 1,gene with protein product,21q22.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301579, PMID:24093767]",176261,ENSG00000180509,,P15382,P15382,HGNC:6240 +GARD:0003048,Orphanet,90647,ORPHA:90647,2,KCNQ1,"[JLNS1, Jervell and Lange-Nielsen syndrome 1, KCNA8, KVLQT1, Kv7.1, LQT1]",potassium voltage-gated channel subfamily Q member 1,gene with protein product,11p15.5-p15.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301579, PMID:24093767]",607542,ENSG00000053918,560,P51787,P51787,HGNC:6294 +GARD:0003049,Orphanet,474,ORPHA:474,10,DYNC2I2,"[CFAP133, DIC5, FAP133, MGC20486, bA216B9.3]",dynein 2 intermediate chain 2,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,[PMID:24183451],613363,ENSG00000119333,,Q96EX3,Q96EX3,HGNC:28296 +GARD:0003049,Orphanet,474,ORPHA:474,10,IFT140,"[KIAA0590, gs114]",intraflagellar transport 140,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:22503633, PMID:23418020, PMID:24009529]",614620,ENSG00000187535,,Q96RY7,Q96RY7,HGNC:29077 +GARD:0003049,Orphanet,474,ORPHA:474,10,TTC21B,"[FAP60, FLA17, FLJ11457, IFT139B, JBTS11, NPHP12, THM1]",tetratricopeptide repeat domain 21B,gene with protein product,2q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21258341, PMID:22791528]",612014,ENSG00000123607,,Q7Z4L5,Q7Z4L5,HGNC:25660 +GARD:0003049,Orphanet,474,ORPHA:474,10,CEP120,[FLJ36090],centrosomal protein 120,gene with protein product,5q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25361962],613446,ENSG00000168944,,Q8N960,,HGNC:26690 +GARD:0003049,Orphanet,474,ORPHA:474,10,DYNC2LI1,"[CGI-60, D2LIC, DKFZP564A033, LIC3]",dynein cytoplasmic 2 light intermediate chain 1,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,[PMID:26077881],617083,ENSG00000138036,,Q8TCX1,Q8TCX1,HGNC:24595 +GARD:0003049,Orphanet,474,ORPHA:474,10,DYNC2H1,"[DHC1b, DHC2, DYH1B, hdhc11]",dynein cytoplasmic 2 heavy chain 1,gene with protein product,11q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:23339108, PMID:23456818]",603297,ENSG00000187240,,Q8NCM8,Q8NCM8,HGNC:2962 +GARD:0003049,Orphanet,474,ORPHA:474,10,IFT80,"[FAP167, KIAA1374]",intraflagellar transport 80,gene with protein product,3q25.33,Disease-causing germline mutation(s) in,Assessed,[PMID:17468754],611177,ENSG00000068885,,Q9P2H3,Q9P2H3,HGNC:29262 +GARD:0003049,Orphanet,474,ORPHA:474,10,DYNC2I1,"[CFAP163, DIC6, FAP163, FLJ10300]",dynein 2 intermediate chain 1,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23910462],615462,ENSG00000126870,,Q8WVS4,Q8WVS4,HGNC:21862 +GARD:0003049,Orphanet,474,ORPHA:474,10,IFT172,"[BBS20, NPHP17, SLB, osm-1, wim, wimple homolog]",intraflagellar transport 172,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24140113],607386,ENSG00000138002,,Q9UG01,Q9UG01,HGNC:30391 +GARD:0003049,Orphanet,474,ORPHA:474,10,WDR19,"[DYF-2, FAP66, FLJ23127, IFT144, KIAA1638, NPHP13, ORF26, Oseg6, Pwdmp, intraflagellar transport 144 homolog (Chlamydomonas)]",WD repeat domain 19,gene with protein product,4p14,Disease-causing germline mutation(s) in,Assessed,"[PMID:22019273, PMID:22791528]",608151,ENSG00000157796,,Q8NEZ3,Q8NEZ3,HGNC:18340 +GARD:0003066,Orphanet,1573,ORPHA:1573,1,CDH3,"[CDHP, P-cadherin, PCAD]",cadherin 3,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:11544476, PMID:12445216, PMID:22140374]",114021,ENSG00000062038,,P22223,P22223,HGNC:1762 +GARD:0003070,Orphanet+OMIM,147950,OMIM:147950,1,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,The molecular basis of the disorder is known,Unknown,,136350,ENSG00000077782,objectId:1808,P11362,P11362,HGNC:3688 +GARD:0003071,Orphanet+OMIM,308700,OMIM:308700,1,ANOS1,"[Adhesion molecule-like, KALIG-1, Kallmann syndrome interval gene 1, WAP four-disulfide core domain 19, WFDC19, X-linked, anosmin-1]",anosmin 1,gene with protein product,Xp22.31,The molecular basis of the disorder is known,Unknown,,300836,ENSG00000011201,,P23352,P23352,HGNC:6211 +GARD:0003073,Orphanet+OMIM,244200,OMIM:244200,1,PROKR2,"[GPR73b, GPRg2, PKR2, dJ680N4.3]",prokineticin receptor 2,gene with protein product,20p12.3,The molecular basis of the disorder is known,Unknown,,607123,ENSG00000101292,objectId:336,Q8NFJ6,Q8NFJ6,HGNC:15836 +GARD:0003077,Orphanet,2122,ORPHA:2122,1,GNA14,,G protein subunit alpha 14,gene with protein product,9q21.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:27476652],604397,ENSG00000156049,,O95837,O95837,HGNC:4382 +GARD:0003084,Orphanet,2707,ORPHA:2707,1,UBE3B,,ubiquitin protein ligase E3B,gene with protein product,12q24.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23687348],608047,ENSG00000151148,,Q7Z3V4,Q7Z3V4,HGNC:13478 +GARD:0003089,Orphanet,2334,ORPHA:2334,1,PAX6,"[AN, Aniridia 1, Aniridia 2, D11S812E, WAGR, aniridia, keratitis]",paired box 6,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,[PMID:7668281],607108,ENSG00000007372,,P26367,P26367,HGNC:8620 +GARD:0003090,Orphanet,65748,ORPHA:65748,1,TGFBR1,"[ACVRLK4, ALK-5, ALK5, TBR-i, TBRI, activin A receptor type II-like kinase, 53kDa]",transforming growth factor beta receptor 1,gene with protein product,9q22.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21358634],190181,ENSG00000106799,1788,P36897,P36897,HGNC:11772 +GARD:0003092,Orphanet,494,ORPHA:494,1,GJB2,"[CX26, NSRD1, connexin 26]",gap junction protein beta 2,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20854437, PMID:22960825]",121011,ENSG00000165474,716,P29033,P29033,HGNC:4284 +GARD:0003094,Orphanet,2202,ORPHA:2202,2,GJB2,"[CX26, NSRD1, connexin 26]",gap junction protein beta 2,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:10633135, PMID:17993581]",121011,ENSG00000165474,716,P29033,P29033,HGNC:4284 +GARD:0003094,Orphanet,2202,ORPHA:2202,2,MT-TS1,[TRNS1],mitochondrially encoded tRNA-Ser (UCN) 1,Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:11069477, PMID:9450881]",590080,ENSG00000210151,,,,HGNC:7497 +GARD:0003100,Orphanet,678,ORPHA:678,1,CTSC,"[DPP1, dipeptidyl peptidase 1]",cathepsin C,gene with protein product,11q14.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:16460249],602365,ENSG00000109861,2344,P53634,P53634,HGNC:2528 +GARD:0003102,Orphanet,2198,ORPHA:2198,1,RHBDF2,"[FLJ22341, RHBDL5, TOCG, iRhom2]",rhomboid 5 homolog 2,gene with protein product,17q25.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:22265016],614404,ENSG00000129667,,Q6PJF5,,HGNC:20788 +GARD:0003103,Orphanet,79501,ORPHA:79501,2,COL14A1,,collagen type XIV alpha 1 chain,gene with protein product,8q24.12,Disease-causing germline mutation(s) in,Assessed,[PMID:22972947],120324,ENSG00000187955,,Q05707,Q05707,HGNC:2191 +GARD:0003103,Orphanet,79501,ORPHA:79501,2,AAGAB,"[FLJ11506, p34]",alpha and gamma adaptin binding protein,gene with protein product,15q23,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23000146, PMID:23064416]",614888,ENSG00000103591,,Q6PD74,,HGNC:25662 +GARD:0003105,Orphanet,28378,ORPHA:28378,1,TAT,,tyrosine aminotransferase,gene with protein product,16q22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:1357662],613018,ENSG00000198650,2527,P17735,P17735,HGNC:11573 +GARD:0003113,Orphanet,477,ORPHA:477,2,GJB2,"[CX26, NSRD1, connexin 26]",gap junction protein beta 2,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,,121011,ENSG00000165474,716,P29033,P29033,HGNC:4284 +GARD:0003113,Orphanet,477,ORPHA:477,2,GJB6,"[CX30, EDH, HED, connexin 30]",gap junction protein beta 6,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,[PMID:15140211],604418,ENSG00000121742,717,O95452,O95452,HGNC:4288 +GARD:0003117,Orphanet,33543,ORPHA:33543,1,TRANK1,,tetratricopeptide repeat and ankyrin repeat containing 1,gene with protein product,3p22.2,Major susceptibility factor in,Assessed,[PMID:33737391],619316,ENSG00000168016,,O15050,,HGNC:29011 +GARD:0003125,Orphanet,2698,ORPHA:2698,1,GJB2,"[CX26, NSRD1, connexin 26]",gap junction protein beta 2,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:15482471, PMID:15952212, PMID:22421650]",121011,ENSG00000165474,716,P29033,P29033,HGNC:4284 +GARD:0003126,Orphanet,2348,ORPHA:2348,1,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:10587585, PMID:10739751]",150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0003128,Orphanet,1946,ORPHA:1946,2,ROGDI,[FLJ22386],rogdi atypical leucine zipper,gene with protein product,16p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22424600],614574,ENSG00000067836,,Q9GZN7,,HGNC:29478 +GARD:0003128,Orphanet,1946,ORPHA:1946,2,SLC13A5,"[INDY, NACT]",solute carrier family 13 member 5,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27600704],608305,ENSG00000141485,981,Q86YT5,Q86YT5,HGNC:23089 +GARD:0003129,Orphanet,3197,ORPHA:3197,5,SLC6A5,"[GLYT2, glycine transporter 2]",solute carrier family 6 member 5,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301437],604159,ENSG00000165970,936,Q9Y345,Q9Y345,HGNC:11051 +GARD:0003129,Orphanet,3197,ORPHA:3197,5,GLRA1,[stiff person syndrome],glycine receptor alpha 1,gene with protein product,5q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301437],138491,ENSG00000145888,423,P23415,P23415,HGNC:4326 +GARD:0003129,Orphanet,3197,ORPHA:3197,5,GPHN,[KIAA1385],gephyrin,gene with protein product,14q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301437],603930,ENSG00000171723,,Q9NQX3,Q9NQX3,HGNC:15465 +GARD:0003129,Orphanet,3197,ORPHA:3197,5,GLRB,,glycine receptor beta,gene with protein product,4q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301437],138492,ENSG00000109738,427,P48167,P48167,HGNC:4329 +GARD:0003129,Orphanet,3197,ORPHA:3197,5,ATAD1,"[FLJ14600, Msp1, thorase]",ATPase family AAA domain containing 1,gene with protein product,10q23.31,Disease-causing germline mutation(s) in,Assessed,[PMID:29390050],614452,ENSG00000138138,,Q8NBU5,,HGNC:25903 +GARD:0003150,Orphanet,1149,ORPHA:1149,1,FKBP10,"[FKBP6, FKBP65, FLJ20683, FLJ22041, FLJ23833, hFKBP65]",FKBP prolyl isomerase 10,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23712425],607063,ENSG00000141756,,Q96AY3,,HGNC:18169 +GARD:0003160,Orphanet,284426,ORPHA:284426,1,LDHA,,lactate dehydrogenase A,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,,150000,ENSG00000134333,,P00338,P00338,HGNC:6535 +GARD:0003161,Orphanet,284435,ORPHA:284435,1,LDHB,,lactate dehydrogenase B,gene with protein product,12p12.1,Disease-causing germline mutation(s) in,Assessed,,150100,ENSG00000111716,,P07195,P07195,HGNC:6541 +GARD:0003163,Orphanet,17,ORPHA:17,1,SUCLG1,,succinate-CoA ligase GDP/ADP-forming subunit alpha,gene with protein product,2p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:19526370, PMID:21639866]",611224,ENSG00000163541,,P53597,P53597,HGNC:11449 +GARD:0003170,Orphanet+OMIM,242300,OMIM:242300,1,TGM1,"[K polypeptide epidermal type I, LI, LI1, TGASE, TGK, protein-glutamine-gamma-glutamyltransferase]",transglutaminase 1,gene with protein product,14q12,The molecular basis of the disorder is known,Unknown,,190195,ENSG00000092295,,P22735,P22735,HGNC:11777 +GARD:0003195,Orphanet,505,ORPHA:505,1,HLA-DRA,,"major histocompatibility complex, class II, DR alpha",gene with protein product,6p21.32,Major susceptibility factor in,Not yet assessed,,142860,ENSG00000204287,,P01903,P01903,HGNC:4947 +GARD:0003196,Orphanet+OMIM,180020,OMIM:180020,1,RCD1,,Retinal cone dystrophy-1,unknown,6q25-q26,The disease phenotype itself was mapped,Unknown,,180020,,,,,GeneID:5953 +GARD:0003203,Orphanet,2379,ORPHA:2379,1,RAB39B,,"RAB39B, member RAS oncogene family",gene with protein product,Xq28,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25434005],300774,ENSG00000155961,,Q96DA2,Q96DA2,HGNC:16499 +GARD:0003212,Orphanet,1297,ORPHA:1297,1,TFAP2A,"[AP-2, AP-2alpha]",transcription factor AP-2 alpha,gene with protein product,6p24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:18423521, PMID:21634087]",107580,ENSG00000137203,,P05549,P05549,HGNC:11742 +GARD:0003223,Orphanet,2658,ORPHA:2658,1,PTDSS1,"[KIAA0024, PSS1, PSSA]",phosphatidylserine synthase 1,gene with protein product,8q22.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24241535],612792,ENSG00000156471,,P48651,P48651,HGNC:9587 +GARD:0003224,Orphanet,240,ORPHA:240,1,SHOX,"[GCFX, PHOG, SHOXY, SS]",short stature homeobox,gene with protein product,Xp22.33; Yp11.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301394],312865; 400020,ENSG00000185960,,O15266,,HGNC:10853 +GARD:0003227,Orphanet,1486,ORPHA:1486,1,GLE1,[hGLE1],GLE1 RNA export mediator,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,[PMID:18204449],603371,ENSG00000119392,,Q53GS7,Q53GS7,HGNC:4315 +GARD:0003231,Orphanet,99852,ORPHA:99852,1,SLC7A2-IT1,,SLC7A2 intronic transcript 1,Non-coding RNA,8p22,Disease-causing germline mutation(s) in,Assessed,"[PMID:22411793, PMID:23637635]",,ENSG00000279903,,,,HGNC:54925 +GARD:0003242,Orphanet,1300,ORPHA:1300,1,IRF6,"[OFC6, VWS1]",interferon regulatory factor 6,gene with protein product,1q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301581],607199,ENSG00000117595,,O14896,O14896,HGNC:6121 +GARD:0003263,Orphanet,2394,ORPHA:2394,1,DLD,"[DLDH, E3, E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex, OGDC-E3]",dihydrolipoamide dehydrogenase,gene with protein product,7q31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24777537],238331,ENSG00000091140,,P09622,P09622,HGNC:2898 +GARD:0003268,Orphanet,530,ORPHA:530,1,ECM1,,extracellular matrix protein 1,gene with protein product,1q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:17063986, PMID:17927570, PMID:18690317]",602201,ENSG00000143369,,Q16610,Q16610,HGNC:3153 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,CALM2,"[CAMII, PHKD, phosphorylase kinase subunit delta, prepro-calmodulin 2]",calmodulin 2,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,"[PMID:23388215, PMID:24917665]",114182,ENSG00000143933,,P0DP24,,HGNC:1445 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,KCNJ5,"[CIR, G protein-activated inward rectifier potassium channel 4, GIRK4, KATP1, Kir3.4, LQT13]",potassium inwardly rectifying channel subfamily J member 5,gene with protein product,11q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301308, PMID:24093767]",600734,ENSG00000120457,437,P48544,P48544,HGNC:6266 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,KCNE2,"[LQT6, MiRP1]",potassium voltage-gated channel subfamily E regulatory subunit 2,gene with protein product,21q22.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301308, PMID:24093767]",603796,ENSG00000159197,,Q9Y6J6,Q9Y6J6,HGNC:6242 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,CAV3,"[LGMD1C, LQT9, M-caveolin, VIP-21, VIP21]",caveolin 3,gene with protein product,3p25.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:20301308, PMID:24093767]",601253,ENSG00000182533,,P56539,P56539,HGNC:1529 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,NOS1AP,"[C-terminal PDZ domain ligand of neuronal nitric oxide synthase, CAPON, KIAA0464]",nitric oxide synthase 1 adaptor protein,gene with protein product,1q23.3,Modifying germline mutation in,Assessed,"[PMID:19822806, PMID:20538168]",605551,ENSG00000198929,,O75052,,HGNC:16859 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,ANK2,"[CFAP87, FAP87]",ankyrin 2,gene with protein product,4q25-q26,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12571597, PMID:17242276, PMID:19862833]",106410,ENSG00000145362,,Q01484,Q01484,HGNC:493 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,KCNE1,"[ISK, IsK, JLNS2, Jervell and Lange-Nielsen syndrome 2, LQT5, Long QT syndrome 5, minK]",potassium voltage-gated channel subfamily E regulatory subunit 1,gene with protein product,21q22.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301308, PMID:24093767]",176261,ENSG00000180509,,P15382,P15382,HGNC:6240 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,CALM1,"[CAMI, DD132, PHKD, phosphorylase kinase subunit delta, prepro-calmodulin 1]",calmodulin 1,gene with protein product,14q32.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:23388215, PMID:24076290]",114180,ENSG00000198668,,P0DP23,P62158,HGNC:1442 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,TBX5,,T-box transcription factor 5,gene with protein product,12q24.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:33369127],601620,ENSG00000089225,,Q99593,Q99593,HGNC:11604 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,TRDN,"[TRISK, triadin in skeletal muscle]",triadin,gene with protein product,6q22.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:25922419, PMID:27041150, PMID:27807201]",603283,ENSG00000186439,,Q13061,Q13061,HGNC:12261 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,SNTA1,"[LQT12, TACIP1, dystrophin-associated protein A1, 59kDa, acidic component, pro-TGF-alpha cytoplasmic domain-interacting protein 1]",syntrophin alpha 1,gene with protein product,20q11.21,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:20301308, PMID:24093767]",601017,ENSG00000101400,,Q13424,Q13424,HGNC:11167 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,SCN5A,"[CDCD2, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, long QT syndrome 3]",sodium voltage-gated channel alpha subunit 5,gene with protein product,3p22.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:20301308, PMID:24093767]",600163,ENSG00000183873,582,Q14524,Q14524,HGNC:10593 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,SCN4B,[LQT10],sodium voltage-gated channel beta subunit 4,gene with protein product,11q23.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:20301308, PMID:24093767]",608256,ENSG00000177098,,Q8IWT1,Q8IWT1,HGNC:10592 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,KCNQ1,"[JLNS1, Jervell and Lange-Nielsen syndrome 1, KCNA8, KVLQT1, Kv7.1, LQT1]",potassium voltage-gated channel subfamily Q member 1,gene with protein product,11p15.5-p15.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301308, PMID:24093767]",607542,ENSG00000053918,560,P51787,P51787,HGNC:6294 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,AKAP9,"[A-kinase anchor protein, 350kDa, A-kinase anchoring protein 450, AKAP120-like protein, AKAP350, AKAP450, AKAP9-BRAF fusion protein, CG-NAP, HYPERION, KIAA0803, LQT11, MU-RMS-40.16A, PPP1R45, PRKA9, YOTIAO, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, protein phosphatase 1, regulatory subunit 45, yotiao]",A-kinase anchoring protein 9,gene with protein product,7q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301308, PMID:24093767]",604001,ENSG00000127914,,Q99996,Q99996,HGNC:379 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,CALM3,"[PHKD, phosphorylase kinase subunit delta, prepro-calmodulin 3]",calmodulin 3,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:31170290],114183,ENSG00000160014,,P0DP25,,HGNC:1449 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,SCN10A,"[Nav1.8, PN3, SNS, hPN3, peripheral nerve sodium channel 3, sensory neuron sodium channel]",sodium voltage-gated channel alpha subunit 10,gene with protein product,3p22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28407228],604427,ENSG00000185313,585,Q9Y5Y9,Q9Y5Y9,HGNC:10582 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,CACNA1C,"[CACH2, CACN2, Cav1.2, LQT8, TS]",calcium voltage-gated channel subunit alpha1 C,gene with protein product,12p13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23677916],114205,ENSG00000151067,529,Q13936,Q13936,HGNC:1390 +GARD:0003284,Orphanet,101016,ORPHA:101016,19,KCNH2,"[HERG, Kv11.1, erg1, human ether-a-go-go-related gene, long QT syndrome type 2]",potassium voltage-gated channel subfamily H member 2,gene with protein product,7q36.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301308, PMID:24093767]",152427,ENSG00000055118,572,Q12809,Q12809,HGNC:6251 +GARD:0003285,Orphanet+OMIM,613688,OMIM:613688,2,KCNH2,"[HERG, Kv11.1, erg1, human ether-a-go-go-related gene, long QT syndrome type 2]",potassium voltage-gated channel subfamily H member 2,gene with protein product,7q36.1,The molecular basis of the disorder is known,Unknown,,152427,ENSG00000055118,objectId:572,Q12809,Q12809,HGNC:6251 +GARD:0003285,Orphanet+OMIM,613688,OMIM:613688,2,ALG10B,"[KCR1, dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1;2- glucosyltransferase, potassium channel regulator 1]","ALG10 alpha-1,2-glucosyltransferase B",gene with protein product,12q12,The molecular basis of the disorder is known,Unknown,,603313,ENSG00000175548,,Q5I7T1,Q5I7T1,HGNC:31088 +GARD:0003286,Orphanet+OMIM,603830,OMIM:603830,1,SCN5A,"[CDCD2, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, long QT syndrome 3]",sodium voltage-gated channel alpha subunit 5,gene with protein product,3p22.2,The molecular basis of the disorder is known,Unknown,,600163,ENSG00000183873,objectId:582,Q14524,Q14524,HGNC:10593 +GARD:0003295,Orphanet,534,ORPHA:534,1,OCRL,"[Dent disease 2, Dent-2, OCRL1]",OCRL inositol polyphosphate-5-phosphatase,gene with protein product,Xq26.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301653],300535,ENSG00000122126,1460,Q01968,Q01968,HGNC:8108 +GARD:0003307,Orphanet,776,ORPHA:776,3,MED12,"[ARC240, CAGH45, HOPA, KIAA0192, Kohtalo homolog, Kto, OKS, OPA1, TRAP230]",mediator complex subunit 12,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17369503],300188,ENSG00000184634,,Q93074,Q93074,HGNC:11957 +GARD:0003307,Orphanet,776,ORPHA:776,3,ZDHHC9,"[CGI-89, DHHC9, ZNF379, ZNF380]",zinc finger DHHC-type palmitoyltransferase 9,gene with protein product,Xq26.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17436253, PMID:23506379]",300646,ENSG00000188706,,Q9Y397,,HGNC:18475 +GARD:0003307,Orphanet,776,ORPHA:776,3,UPF3B,"[HUPF3B, MRX82, RENT3B, UPF3X]",UPF3B regulator of nonsense mediated mRNA decay,gene with protein product,Xq24,Disease-causing germline mutation(s) in,Assessed,[PMID:17704778],300298,ENSG00000125351,,Q9BZI7,Q9BZI7,HGNC:20439 +GARD:0003314,Orphanet,1173,ORPHA:1173,2,RNF216,"[TRIAD3, UBCE7IP1, ZIN]",ring finger protein 216,gene with protein product,7p22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23656588],609948,ENSG00000011275,,Q9NWF9,Q9NWF9,HGNC:21698 +GARD:0003314,Orphanet,1173,ORPHA:1173,2,PNPLA6,"[NTE, SPG39, SWS, iPLA2delta, neuropathy target esterase, sws]",patatin like phospholipase domain containing 6,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24355708],603197,ENSG00000032444,,Q8IY17,Q8IY17,HGNC:16268 +GARD:0003318,Orphanet,2136,ORPHA:2136,3,FAT4,"[CDHF14, CDHR11, FAT-J, cadherin-related family member 11]",FAT atypical cadherin 4,gene with protein product,4q28.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24913602],612411,ENSG00000196159,,Q6V0I7,,HGNC:23109 +GARD:0003318,Orphanet,2136,ORPHA:2136,3,CCBE1,"[FLJ30681, KIAA1983]",collagen and calcium binding EGF domains 1,gene with protein product,18q21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:19935664],612753,ENSG00000183287,,Q6UXH8,,HGNC:29426 +GARD:0003318,Orphanet,2136,ORPHA:2136,3,ADAMTS3,"[ADAMTS-4, KIAA0366]",ADAM metallopeptidase with thrombospondin type 1 motif 3,gene with protein product,4q13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28985353],605011,ENSG00000156140,1676,O15072,O15072,HGNC:219 +GARD:0003319,Orphanet,538,ORPHA:538,2,TSC2,"[LAM, PPP1R160, protein phosphatase 1, regulatory subunit 160, tuberin]",TSC complex subunit 2,gene with protein product,16p13.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:17541983],191092,ENSG00000103197,,P49815,P49815,HGNC:12363 +GARD:0003319,Orphanet,538,ORPHA:538,2,TSC1,"[KIAA0243, LAM, hamartin]",TSC complex subunit 1,gene with protein product,9q34,Disease-causing somatic mutation(s) in,Assessed,[PMID:17541983],605284,ENSG00000165699,,Q92574,Q92574,HGNC:12362 +GARD:0003324,Orphanet,90186,ORPHA:90186,1,EPHB4,[Tyro11],EPH receptor B4,gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:34231312],600011,ENSG00000196411,1833,P54760,,HGNC:3395 +GARD:0003328,Orphanet+OMIM,153100,OMIM:153100,1,FLT4,"[Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4, PCL, VEGF receptor-3, VEGFR-3, VEGFR3, primary congenital lymphedema, vascular endothelial growth factor receptor 3]",fms related receptor tyrosine kinase 4,gene with protein product,5q35.3,The molecular basis of the disorder is known,Unknown,,136352,ENSG00000037280,objectId:1814,P35916,P35916,HGNC:3767 +GARD:0003335,Orphanet,470,ORPHA:470,1,SLC7A7,[y+LAT-1],solute carrier family 7 member 7,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301535],603593,ENSG00000155465,898,Q9UM01,Q9UM01,HGNC:11065 +GARD:0003348,Orphanet,2728,ORPHA:2728,1,SMARCA2,"[BAF190, BRM, SNF2, SNF2LA, SWI2, Sth1p, brahma homolog, hBRM, hSNF2a]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2",gene with protein product,9p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:32694869],600014,ENSG00000080503,2739,P51531,P51531,HGNC:11098 +GARD:0003350,Orphanet,34528,ORPHA:34528,1,FXYD2,[MGC12372],FXYD domain containing ion transport regulator 2,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17980699],601814,ENSG00000137731,2610,P54710,P54710,HGNC:4026 +GARD:0003363,Orphanet+OMIM,145600,OMIM:145600,1,RYR1,"[PPP1R137, RYR, protein phosphatase 1, regulatory subunit 137]",ryanodine receptor 1,gene with protein product,19q13.2,The molecular basis of the disorder is known,Unknown,,180901,ENSG00000196218,objectId:747,P21817,P21817,HGNC:10483 +GARD:0003364,Orphanet+OMIM,154275,OMIM:154275,1,MHS2,,Malignant hyperthermia susceptibility 2,unknown,17q11.2-q24,The disease phenotype itself was mapped,Unknown,,154275,,,,,GeneID:4264 +GARD:0003365,Orphanet+OMIM,154276,OMIM:154276,1,MHS3,,Malignant hyperthermia susceptibility 3,unknown,7q21-q22,The disease phenotype itself was mapped,Unknown,,154276,,,,,GeneID:7977 +GARD:0003366,Orphanet+OMIM,600467,OMIM:600467,1,MHS4,,Malignant hyperthermia susceptibility 4,unknown,3q13.1,The disease phenotype itself was mapped,Unknown,,600467,,,,,GeneID:4265 +GARD:0003367,Orphanet+OMIM,601887,OMIM:601887,1,CACNA1S,"[Cav1.1, hypoPP]",calcium voltage-gated channel subunit alpha1 S,gene with protein product,1q32.1,The molecular basis of the disorder is known,Unknown,,114208,ENSG00000081248,objectId:528,Q13698,Q13698,HGNC:1397 +GARD:0003368,Orphanet+OMIM,601888,OMIM:601888,1,MHS6,,Malignant hyperthermia susceptibility 6,unknown,5p,The disease phenotype itself was mapped,Unknown,,601888,,,,,GeneID:4266 +GARD:0003371,Orphanet,943,ORPHA:943,1,MLYCD,"[MCD, hMCD]",malonyl-CoA decarboxylase,gene with protein product,16q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24613099],606761,ENSG00000103150,1275,O95822,O95822,HGNC:7150 +GARD:0003373,Orphanet,2229,ORPHA:2229,1,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:19283854],150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0003374,Orphanet,90153,ORPHA:90153,2,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:12075506],150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0003374,Orphanet,90153,ORPHA:90153,2,MTX2,,metaxin 2,gene with protein product,2q31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:32917887],608555,ENSG00000128654,,O75431,,HGNC:7506 +GARD:0003382,Orphanet,2460,ORPHA:2460,1,SCARF2,"[HUMZD58C02, SREC-II, SREC2]",scavenger receptor class F member 2,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:20887961, PMID:22140376]",613619,ENSG00000244486,,Q96GP6,,HGNC:19869 +GARD:0003390,Orphanet,444,ORPHA:444,2,HR,[AU],HR lysine demethylase and nuclear receptor corepressor,gene with protein product,8p21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19122663],602302,ENSG00000168453,,O43593,O43593,HGNC:5172 +GARD:0003390,Orphanet,444,ORPHA:444,2,EPS8L3,"[FLJ21522, MGC16817]",EPS8 like 3,gene with protein product,1p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23099647],614989,ENSG00000198758,,Q8TE67,,HGNC:21297 +GARD:0003395,Orphanet,2717,ORPHA:2717,1,FREM1,"[C9orf143, C9orf145, DKFZp686M16108, FLJ25461, TILRR]",FRAS1 related extracellular matrix 1,gene with protein product,9p22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301721],608944,ENSG00000164946,,Q5H8C1,,HGNC:23399 +GARD:0003396,Orphanet,2763,ORPHA:2763,1,FAM111A,"[FLJ22794, KIAA1895]",FAM111 trypsin like peptidase A,gene with protein product,11q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23684011],615292,ENSG00000166801,,Q96PZ2,,HGNC:24725 +GARD:0003406,Orphanet,1387,ORPHA:1387,2,RAB3GAP2,"[DKFZP434D245, KIAA0839, RAB3-GAP150, SPG69]",RAB3 GTPase activating non-catalytic protein subunit 2,gene with protein product,1q41,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23420520],609275,ENSG00000118873,,Q9H2M9,Q9H2M9,HGNC:17168 +GARD:0003406,Orphanet,1387,ORPHA:1387,2,RAB3GAP1,"[KIAA0066, RAB3GAP, RAB3GAP130, WARBM1]",RAB3 GTPase activating protein catalytic subunit 1,gene with protein product,2q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23420520],602536,ENSG00000115839,,Q15042,Q15042,HGNC:17063 +GARD:0003413,Orphanet,2209,ORPHA:2209,1,PAH,"[PH, phenylalanine 4-monooxygenase]",phenylalanine hydroxylase,gene with protein product,12q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:1915502],612349,ENSG00000171759,1240,P00439,P00439,HGNC:8582 +GARD:0003418,Orphanet+OMIM,125850,OMIM:125850,1,HNF4A,"[HNF4, NR2A1]",hepatocyte nuclear factor 4 alpha,gene with protein product,20q13.12,The molecular basis of the disorder is known,Unknown,,600281,ENSG00000101076,objectId:608,P41235,P41235,HGNC:5024 +GARD:0003426,Orphanet,168624,ORPHA:168624,1,FGFR2,"[CD332, CEK3, Crouzon syndrome, ECT1, K-SAM, Pfeiffer syndrome, TK14, TK25]",fibroblast growth factor receptor 2,gene with protein product,10q26.13,Disease-causing germline mutation(s) in,Assessed,[PMID:16061565],176943,ENSG00000066468,1809,P21802,P21802,HGNC:3689 +GARD:0003427,Orphanet,2473,ORPHA:2473,1,MKKS,,MKKS centrosomal shuttling protein,gene with protein product,20p12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301675],604896,ENSG00000125863,,Q9NPJ1,Q9NPJ1,HGNC:7108 +GARD:0003432,Orphanet,3097,ORPHA:3097,1,WT1,"[AWT1, NPHS4, WAGR, WIT-2]",WT1 transcription factor,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:17853480, PMID:21959952]",607102,ENSG00000184937,,P19544,P19544,HGNC:12796 +GARD:0003436,Orphanet,564,ORPHA:564,17,B9D2,"[MGC4093, MKS10, MKSR-2]",B9 domain containing 2,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21763481],611951,ENSG00000123810,,Q9BPU9,Q9BPU9,HGNC:28636 +GARD:0003436,Orphanet,564,ORPHA:564,17,TCTN1,"[FLJ21127, JBTS13, TECT1]",tectonic family member 1,gene with protein product,12q24.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28631893],609863,ENSG00000204852,,Q2MV58,Q2MV58,HGNC:26113 +GARD:0003436,Orphanet,564,ORPHA:564,17,CEP290,"[3H11Ag, BBS14, Bardet-Biedl syndrome 14, CT87, FLJ13615, JBTS5, Joubert syndrome 5, KIAA0373, LCA10, MKS4, Meckel syndrome, type 4, NPHP6, POC3, POC3 centriolar protein homolog (Chlamydomonas), SLSN6, cancer/testis antigen 87, nephrocystin-6, rd16]",centrosomal protein 290,gene with protein product,12q21.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:17564974, PMID:19466712, PMID:21110233]",610142,ENSG00000198707,,O15078,O15078,HGNC:29021 +GARD:0003436,Orphanet,564,ORPHA:564,17,MKS1,"[BBS13, FLJ20345, POC12, POC12 centriolar protein homolog (Chlamydomonas)]",MKS transition zone complex subunit 1,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:17389183, PMID:19466712, PMID:21110233]",609883,ENSG00000011143,,Q9NXB0,Q9NXB0,HGNC:7121 +GARD:0003436,Orphanet,564,ORPHA:564,17,TMEM107,"[JBTS29, MGC10744, MKS13]",transmembrane protein 107,gene with protein product,17p13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26123494],616183,ENSG00000179029,,Q6UX40,Q6UX40,HGNC:28128 +GARD:0003436,Orphanet,564,ORPHA:564,17,RPGRIP1,"[CORD13, LCA6, RGI1]",RPGR interacting protein 1,gene with protein product,14q11.2,Candidate gene tested in,Not yet assessed,,605446,ENSG00000092200,,Q96KN7,Q96KN7,HGNC:13436 +GARD:0003436,Orphanet,564,ORPHA:564,17,CSPP1,"[CSPP, CSPP-L, FLJ22490, JBTS21]",centrosome and spindle pole associated protein 1,gene with protein product,8q13.1-q13.2,Disease-causing germline mutation(s) in,Assessed,,611654,ENSG00000104218,,Q1MSJ5,,HGNC:26193 +GARD:0003436,Orphanet,564,ORPHA:564,17,RPGRIP1L,"[CORS3, FTM, JBTS7, KIAA1005, MKS5, Meckel syndrome, type 5, NPHP8, PPP1R134, fantom homolog, protein phosphatase 1, regulatory subunit 134]",RPGRIP1 like,gene with protein product,16q12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:17558409, PMID:21110233]",610937,ENSG00000103494,,Q68CZ1,Q68CZ1,HGNC:29168 +GARD:0003436,Orphanet,564,ORPHA:564,17,B9D1,"[B9, EPPB9, MKS9, MKSR-1, endothelial precursor protein B9]",B9 domain containing 1,gene with protein product,17p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21493627],614144,ENSG00000108641,,Q9UPM9,Q9UPM9,HGNC:24123 +GARD:0003436,Orphanet,564,ORPHA:564,17,CC2D2A,"[JBTS9, KIAA1345, MKS6, Meckel syndrome, type 6]",coiled-coil and C2 domain containing 2A,gene with protein product,4p15.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:19466712, PMID:21110233]",612013,ENSG00000048342,,Q9P2K1,Q9P2K1,HGNC:29253 +GARD:0003436,Orphanet,564,ORPHA:564,17,TMEM216,"[HSPC244, JBTS2, MGC13379]",transmembrane protein 216,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20512146, PMID:21110233]",613277,ENSG00000187049,,Q9P0N5,Q9P0N5,HGNC:25018 +GARD:0003436,Orphanet,564,ORPHA:564,17,TCTN2,"[FLJ12975, JBTS24, MKS8, Meckel syndrome, type 8, TECT2]",tectonic family member 2,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:21462283],613846,ENSG00000168778,,Q96GX1,Q96GX1,HGNC:25774 +GARD:0003436,Orphanet,564,ORPHA:564,17,TCTN3,"[DKFZP564D116, JBTS18, TECT3]",tectonic family member 3,gene with protein product,10q24.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22883145],613847,ENSG00000119977,,Q6NUS6,Q6NUS6,HGNC:24519 +GARD:0003436,Orphanet,564,ORPHA:564,17,TMEM231,"[ALYE870, FLJ22167, JBTS20, MKS11, PRO1886]",transmembrane protein 231,gene with protein product,16q23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23349226],614949,ENSG00000205084,,Q9H6L2,,HGNC:37234 +GARD:0003436,Orphanet,564,ORPHA:564,17,TMEM67,"[JBTS6, MGC26979, Meckelin, NPHP11]",transmembrane protein 67,gene with protein product,8q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17389183, PMID:19466712, PMID:21110233]",609884,ENSG00000164953,,Q5HYA8,Q5HYA8,HGNC:28396 +GARD:0003436,Orphanet,564,ORPHA:564,17,TMEM237,[JBTS14],transmembrane protein 237,gene with protein product,2q33.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26729329],614423,ENSG00000155755,,Q96Q45,,HGNC:14432 +GARD:0003436,Orphanet,564,ORPHA:564,17,TXNDC15,"[2310047H23Rik, FLJ22625]",thioredoxin domain containing 15,gene with protein product,5q31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27894351],617778,ENSG00000113621,,Q96J42,,HGNC:20652 +GARD:0003442,Orphanet,2241,ORPHA:2241,4,LMOD1,"[1D, 64kD, D1]",leiomodin 1,gene with protein product,1q32.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28292896],602715,ENSG00000163431,,P29536,P29536,HGNC:6647 +GARD:0003442,Orphanet,2241,ORPHA:2241,4,ACTG2,[ACTSG],"actin gamma 2, smooth muscle",gene with protein product,2p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24676022],102545,ENSG00000163017,,P63267,P63267,HGNC:145 +GARD:0003442,Orphanet,2241,ORPHA:2241,4,MYLK,"[MLCK, MLCK1, MYLK1, smMLCK, smooth muscle myosin light chain kinase]",myosin light chain kinase,gene with protein product,3q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28602422],600922,ENSG00000065534,1552,Q15746,Q15746,HGNC:7590 +GARD:0003442,Orphanet,2241,ORPHA:2241,4,MYH11,"[SMHC, SMMHC]",myosin heavy chain 11,gene with protein product,16p13.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25407000],160745,ENSG00000133392,,P35749,P35749,HGNC:7569 +GARD:0003443,Orphanet,2604,ORPHA:2604,1,ACTG2,[ACTSG],"actin gamma 2, smooth muscle",gene with protein product,2p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22960657],102545,ENSG00000163017,,P63267,P63267,HGNC:145 +GARD:0003445,Orphanet,2478,ORPHA:2478,2,MLC1,"[KIAA0027, LVM, MLC, VL]",modulator of VRAC current 1,gene with protein product,22q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20301707],605908,ENSG00000100427,,Q15049,,HGNC:17082 +GARD:0003445,Orphanet,2478,ORPHA:2478,2,HEPACAM,"[FLJ25530, GLIALCAM, glial cell adhesion molecule, hepaCAM]",hepatic and glial cell adhesion molecule,gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301707],611642,ENSG00000165478,,Q14CZ8,,HGNC:26361 +GARD:0003451,Orphanet,2196,ORPHA:2196,1,CLDN19,,claudin 19,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17033971],610036,ENSG00000164007,,Q8N6F1,Q8N6F1,HGNC:2040 +GARD:0003460,Orphanet,618,ORPHA:618,11,TERT,"[EST2, TCS1, TP2, TRT, hEST2]",telomerase reverse transcriptase,gene with protein product,5p15.33,Major susceptibility factor in,Assessed,[PMID:23348503],187270,ENSG00000164362,,O14746,O14746,HGNC:11730 +GARD:0003460,Orphanet,618,ORPHA:618,11,CDKN2B,"[CDK4I, INK4B, MTS2, P15, TP15, p15INK4b]",cyclin dependent kinase inhibitor 2B,gene with protein product,9p21.3,Candidate gene tested in,Not yet assessed,,600431,ENSG00000147883,,P42772,P42772,HGNC:1788 +GARD:0003460,Orphanet,618,ORPHA:618,11,TERF2IP,[RAP1],TERF2 interacting protein,gene with protein product,16q23.1,Major susceptibility factor in,Assessed,[PMID:25431349],605061,ENSG00000166848,,Q9NYB0,Q9NYB0,HGNC:19246 +GARD:0003460,Orphanet,618,ORPHA:618,11,MITF,"[MI, bHLHe32, homolog of mouse microphthalmia]",melanocyte inducing transcription factor,gene with protein product,3p13,Major susceptibility factor in,Assessed,[PMID:25431349],156845,ENSG00000187098,,O75030,O75030,HGNC:7105 +GARD:0003460,Orphanet,618,ORPHA:618,11,BAP1,"[KIAA0272, UCHL2, hucep-6, ubiquitin carboxy-terminal hydrolase]",BRCA1 associated protein 1,gene with protein product,3p21.1,Major susceptibility factor in,Assessed,[PMID:25431349],603089,ENSG00000163930,2332,Q92560,Q92560,HGNC:950 +GARD:0003460,Orphanet,618,ORPHA:618,11,ACD,"[POT1 and TIN2 organizing protein, Pip1, Ptop, TIN2 interacting protein 1, Tint1, Tpp1]",ACD shelterin complex subunit and telomerase recruitment factor,gene with protein product,16q22.1,Major susceptibility factor in,Assessed,[PMID:25431349],609377,ENSG00000102977,,Q96AP0,Q96AP0,HGNC:25070 +GARD:0003460,Orphanet,618,ORPHA:618,11,MGMT,[methylated-DNA--protein-cysteine methyltransferase],O-6-methylguanine-DNA methyltransferase,gene with protein product,10q26.3,Major susceptibility factor in,Assessed,[PMID:24801985],156569,ENSG00000170430,,P16455,P16455,HGNC:7059 +GARD:0003460,Orphanet,618,ORPHA:618,11,MC1R,"[MSH-R, alpha melanocyte stimulating hormone receptor]",melanocortin 1 receptor,gene with protein product,16q24.3,Major susceptibility factor in,Assessed,"[PMID:24238329, PMID:24258989]",155555,ENSG00000258839,282,Q01726,Q01726,HGNC:6929 +GARD:0003460,Orphanet,618,ORPHA:618,11,CDK4,[PSK-J3],cyclin dependent kinase 4,gene with protein product,12q14.1,Major susceptibility factor in,Assessed,[PMID:19585149],123829,ENSG00000135446,1976,P11802,P11802,HGNC:1773 +GARD:0003460,Orphanet,618,ORPHA:618,11,CDKN2A,"[ARF, CDK4I, CMM2, INK4, INK4a, MTS1, p14, p14ARF, p16, p16INK4a, p19, p19Arf]",cyclin dependent kinase inhibitor 2A,gene with protein product,9p21.3,Major susceptibility factor in,Assessed,[PMID:19585149],600160,ENSG00000147889,,P42771,P42771,HGNC:1787 +GARD:0003460,Orphanet,618,ORPHA:618,11,POT1,"[DKFZp586D211, hPot1]",protection of telomeres 1,gene with protein product,7q31.33,Major susceptibility factor in,Assessed,"[PMID:24686846, PMID:24686849]",606478,ENSG00000128513,,Q9NUX5,Q9NUX5,HGNC:17284 +GARD:0003505,Orphanet,404473,ORPHA:404473,1,CTNNB1,"[armadillo, beta-catenin]",catenin beta 1,gene with protein product,3p22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24614104],116806,ENSG00000168036,,P35222,P35222,HGNC:2514 +GARD:0003506,Orphanet,3077,ORPHA:3077,1,MECP2,,methyl-CpG binding protein 2,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:11885030],300005,ENSG00000169057,,P51608,P51608,HGNC:6990 +GARD:0003521,Orphanet+OMIM,309580,OMIM:309580,1,ATRX,"[RAD54 homolog (S. cerevisiae), XH2, XNP]",ATRX chromatin remodeler,gene with protein product,Xq21.1,The molecular basis of the disorder is known,Unknown,,300032,ENSG00000085224,,P46100,P46100,HGNC:886 +GARD:0003531,Orphanet,3057,ORPHA:3057,1,MAOA,,monoamine oxidase A,gene with protein product,Xp11.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:24169519, PMID:8211186]",309850,ENSG00000189221,2489,P21397,P21397,HGNC:6833 +GARD:0003553,Orphanet,2632,ORPHA:2632,1,SHOX,"[GCFX, PHOG, SHOXY, SS]",short stature homeobox,gene with protein product,Xp22.33; Yp11.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12116254, PMID:20301394]",312865; 400020,ENSG00000185960,,O15266,,HGNC:10853 +GARD:0003559,Orphanet,2498,ORPHA:2498,1,FGF16,,fibroblast growth factor 16,gene with protein product,Xq21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23709756],300827,ENSG00000196468,,O43320,O43320,HGNC:3672 +GARD:0003560,Orphanet,2499,ORPHA:2499,1,PTPN11,"[BPTP3, PTP2C, SH-PTP2, SH2 domain-containing protein tyrosine phosphatase 2, SHP-2, SHP2]",protein tyrosine phosphatase non-receptor type 11,gene with protein product,12q24.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21533187],176876,ENSG00000179295,,Q06124,Q06124,HGNC:9644 +GARD:0003562,Orphanet,1040,ORPHA:1040,2,MMP13,"[CLG3, collagenase 3]",matrix metallopeptidase 13,gene with protein product,11q22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19615667, PMID:24781753]",600108,ENSG00000137745,1637,P45452,P45452,HGNC:7159 +GARD:0003562,Orphanet,1040,ORPHA:1040,2,MMP13,"[CLG3, collagenase 3]",matrix metallopeptidase 13,gene with protein product,11q22.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:19615667, PMID:24781753]",600108,ENSG00000137745,1637,P45452,P45452,HGNC:7159 +GARD:0003562,Orphanet,1040,ORPHA:1040,2,MMP9,,matrix metallopeptidase 9,gene with protein product,20q13.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19615667],120361,ENSG00000100985,1633,P14780,P14780,HGNC:7176 +GARD:0003563,Orphanet,2501,ORPHA:2501,1,MMP13,"[CLG3, collagenase 3]",matrix metallopeptidase 13,gene with protein product,11q22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24648384],600108,ENSG00000137745,1637,P45452,P45452,HGNC:7159 +GARD:0003568,Orphanet,2504,ORPHA:2504,1,RUNX2,"[AML3, PEBP2A1, PEBP2aA1]",RUNX family transcription factor 2,gene with protein product,6p21.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23290074],600211,ENSG00000124813,,Q13950,Q13950,HGNC:10472 +GARD:0003571,Orphanet,2635,ORPHA:2635,1,TRPV4,"[CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2, VROAC, osmosensitive transient receptor potential channel 4]",transient receptor potential cation channel subfamily V member 4,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,[PMID:22791502],605427,ENSG00000111199,510,Q9HBA0,Q9HBA0,HGNC:18083 +GARD:0003576,Orphanet,2169,ORPHA:2169,1,MTRR,"[Methionine synthase reductase, cblE]",5-methyltetrahydrofolate-homocysteine methyltransferase reductase,gene with protein product,5p15.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301503],602568,ENSG00000124275,,Q9UBK8,Q9UBK8,HGNC:7473 +GARD:0003577,Orphanet,2170,ORPHA:2170,1,MTR,"[Methionine synthase, cblG]",5-methyltetrahydrofolate-homocysteine methyltransferase,gene with protein product,1q43,Disease-causing germline mutation(s) in,Assessed,[PMID:20301503],156570,ENSG00000116984,3099,Q99707,Q99707,HGNC:7468 +GARD:0003582,Orphanet,79283,ORPHA:79283,1,MMADHC,"[CL25022, cblD]",metabolism of cobalamin associated D,gene with protein product,2q23.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301409, PMID:20301503]",611935,ENSG00000168288,,Q9H3L0,Q9H3L0,HGNC:25221 +GARD:0003584,Orphanet,79284,ORPHA:79284,1,LMBRD1,"[FLJ11240, bA810I22.1, cblF]",LMBR1 domain containing 1,gene with protein product,6q13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301503],612625,ENSG00000168216,,Q9NUN5,Q9NUN5,HGNC:23038 +GARD:0003588,Orphanet,29,ORPHA:29,1,MVK,"[LH receptor mRNA-binding protein, LRBP, MK, mevalonic aciduria]",mevalonate kinase,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,,251170,ENSG00000110921,640,Q03426,Q03426,HGNC:7530 +GARD:0003589,Orphanet,2505,ORPHA:2505,2,TUBB,"[M40, MGC16435, OK/SW-cl.56, Tubb5, beta1-tubulin, class I beta-tubulin]",tubulin beta class I,gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:26637975],191130,ENSG00000196230,2640,P07437,P07437,HGNC:20778 +GARD:0003589,Orphanet,2505,ORPHA:2505,2,MAPRE2,"[APC-binding protein EB1, EB1, EB2, RP1]",microtubule associated protein RP/EB family member 2,gene with protein product,18q12.1-q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26637975],605789,ENSG00000166974,,Q15555,Q15555,HGNC:6891 +GARD:0003605,Orphanet,2514,ORPHA:2514,2,LMNB1,,lamin B1,gene with protein product,5q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:32910914],150340,ENSG00000113368,,P20700,P20700,HGNC:6637 +GARD:0003605,Orphanet,2514,ORPHA:2514,2,DPP6,"[DPL1, DPPX]",dipeptidyl peptidase like 6,gene with protein product,7q36.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23832105],126141,ENSG00000130226,,P42658,,HGNC:3010 +GARD:0003622,Orphanet,2526,ORPHA:2526,1,KIF11,"[Eg5, HKSP, TRIP5]",kinesin family member 11,gene with protein product,10q23.33,Disease-causing germline mutation(s) in,Assessed,[PMID:22284827],148760,ENSG00000138160,2788,P52732,P52732,HGNC:6388 +GARD:0003643,Orphanet,93328,ORPHA:93328,1,FZD2,,frizzled class receptor 2,gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:25759469],600667,ENSG00000180340,230,Q14332,Q14332,HGNC:4040 +GARD:0003644,Orphanet,98938,ORPHA:98938,14,TENM3,"[KIAA1455, TEN3, Ten-M3]",teneurin transmembrane protein 3,gene with protein product,4q34.3-q35.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22766609],610083,ENSG00000218336,,Q9P273,,HGNC:29944 +GARD:0003644,Orphanet,98938,ORPHA:98938,14,OTX2,,orthodenticle homeobox 2,gene with protein product,14q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24033328],600037,ENSG00000165588,,P32243,,HGNC:8522 +GARD:0003644,Orphanet,98938,ORPHA:98938,14,PORCN,"[MG61, PORC, PPN, por]",porcupine O-acyltransferase,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:33111437],300651,ENSG00000102312,3145,Q9H237,Q9H237,HGNC:17652 +GARD:0003644,Orphanet,98938,ORPHA:98938,14,SOX2,,SRY-box transcription factor 2,gene with protein product,3q26.33,Disease-causing germline mutation(s) in,Assessed,[PMID:24033328],184429,ENSG00000181449,,P48431,P48431,HGNC:11195 +GARD:0003644,Orphanet,98938,ORPHA:98938,14,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12503095],600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0003644,Orphanet,98938,ORPHA:98938,14,GDF6,"[BMP13, KFS, KFS1]",growth differentiation factor 6,gene with protein product,8q22.1,Candidate gene tested in,Not yet assessed,[PMID:19864492],601147,ENSG00000156466,,Q6KF10,,HGNC:4221 +GARD:0003644,Orphanet,98938,ORPHA:98938,14,SIX6,[Six9],SIX homeobox 6,gene with protein product,14q23.1,Candidate gene tested in,Not yet assessed,,606326,ENSG00000184302,,O95475,,HGNC:10892 +GARD:0003644,Orphanet,98938,ORPHA:98938,14,RBP4,,retinol binding protein 4,gene with protein product,10q23.33,Disease-causing germline mutation(s) in,Assessed,[PMID:25910211],180250,ENSG00000138207,2549,P02753,P02753,HGNC:9922 +GARD:0003644,Orphanet,98938,ORPHA:98938,14,VSX2,[RET1],visual system homeobox 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:15257456],142993,ENSG00000119614,,P58304,,HGNC:1975 +GARD:0003644,Orphanet,98938,ORPHA:98938,14,RAX,[RX],retina and anterior neural fold homeobox,gene with protein product,18q21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:24033328],601881,ENSG00000134438,,Q9Y2V3,,HGNC:18662 +GARD:0003644,Orphanet,98938,ORPHA:98938,14,ALDH1A3,"[RALDH3, Retinaldehyde dehydrogenase 3, retinaldehyde dehydrogenase 3]",aldehyde dehydrogenase 1 family member A3,gene with protein product,15q26.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23312594],600463,ENSG00000184254,,P47895,P47895,HGNC:409 +GARD:0003644,Orphanet,98938,ORPHA:98938,14,GDF3,,growth differentiation factor 3,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:19864492],606522,ENSG00000184344,,Q9NR23,,HGNC:4218 +GARD:0003644,Orphanet,98938,ORPHA:98938,14,STRA6,"[FLJ12541, RBP receptor, retinol binding protein 4 receptor]",signaling receptor and transporter of retinol STRA6,gene with protein product,15q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21901792],610745,ENSG00000137868,,Q9BX79,Q9BX79,HGNC:30650 +GARD:0003644,Orphanet,98938,ORPHA:98938,14,ABCB6,"[ATP-binding cassette half-transporter, EST45597, MTABC3, umat]",ATP binding cassette subfamily B member 6 (Langereis blood group),gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:22226084],605452,ENSG00000115657,773,Q9NP58,Q9NP58,HGNC:47 +GARD:0003645,Orphanet,139471,ORPHA:139471,1,BMP4,,bone morphogenetic protein 4,gene with protein product,14q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18252212],112262,ENSG00000125378,,P12644,P12644,HGNC:1071 +GARD:0003659,Orphanet,2556,ORPHA:2556,3,COX7B,,cytochrome c oxidase subunit 7B,gene with protein product,Xq21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23122588],300885,ENSG00000131174,,P24311,P24311,HGNC:2291 +GARD:0003659,Orphanet,2556,ORPHA:2556,3,HCCS,"[CCHL, cytochrome c heme-lyase, holocytochrome-c synthetase]",holocytochrome c synthase,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17033964],300056,ENSG00000004961,,P53701,,HGNC:4837 +GARD:0003659,Orphanet,2556,ORPHA:2556,3,NDUFB11,"[ESSS, NP17.3, Np15, complex I NP17.3 subunit]",NADH:ubiquinone oxidoreductase subunit B11,gene with protein product,Xp11.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25772934],300403,ENSG00000147123,,Q9NX14,Q9NX14,HGNC:20372 +GARD:0003669,Orphanet,531,ORPHA:531,3,HIC1,"[ZBTB29, ZNF901]",HIC ZBTB transcriptional repressor 1,gene with protein product,17p13.3,Candidate gene tested in,Not yet assessed,"[PMID:10072440, PMID:10655551]",603825,ENSG00000177374,,Q14526,Q14526,HGNC:4909 +GARD:0003669,Orphanet,531,ORPHA:531,3,YWHAE,"[14-3-3 epsilon, FLJ45465]",tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon,gene with protein product,17p13.3,Role in the phenotype of,Assessed,[PMID:19584063],605066,ENSG00000108953,,P62258,P62258,HGNC:12851 +GARD:0003669,Orphanet,531,ORPHA:531,3,PAFAH1B1,"[LIS1, NudF, PAFAH, lissencephaly-1]",platelet activating factor acetylhydrolase 1b regulatory subunit 1,gene with protein product,17p13.3,Role in the phenotype of,Assessed,[PMID:12621583],601545,ENSG00000007168,,P43034,P43034,HGNC:8574 +GARD:0003671,Orphanet,255210,ORPHA:255210,11,MT-TL1,[TRNL1],mitochondrially encoded tRNA-Leu (UUA/G) 1,Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:10356136, PMID:20301352, PMID:9323566]",590050,ENSG00000209082,,,,HGNC:7490 +GARD:0003671,Orphanet,255210,ORPHA:255210,11,MT-TW,[trnW],mitochondrially encoded tRNA-Trp (UGA/G),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:19349200, PMID:20301352, PMID:9266739]",590095,ENSG00000210117,,,,HGNC:7501 +GARD:0003671,Orphanet,255210,ORPHA:255210,11,MT-ND4,"[NAD4, NADH-ubiquinone oxidoreductase chain 4, ND4, complex I ND4 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301352, PMID:20502985]",516003,ENSG00000198886,,P03905,P03905,HGNC:7459 +GARD:0003671,Orphanet,255210,ORPHA:255210,11,MT-ND3,"[NAD3, NADH-ubiquinone oxidoreductase chain 3, ND3, complex I ND3 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:16023078, PMID:20202874, PMID:20301352, PMID:22364517]",516002,ENSG00000198840,,P03897,P03897,HGNC:7458 +GARD:0003671,Orphanet,255210,ORPHA:255210,11,MT-ND2,"[NAD2, NADH-ubiquinone oxidoreductase chain 2, ND2, complex I ND2 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:16738010, PMID:16996290, PMID:20301352]",516001,ENSG00000198763,,P03891,P03891,HGNC:7456 +GARD:0003671,Orphanet,255210,ORPHA:255210,11,MT-TV,[trnV],mitochondrially encoded tRNA-Val (GUN),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:11799391, PMID:20301352, PMID:24691472]",590105,ENSG00000210077,,,,HGNC:7500 +GARD:0003671,Orphanet,255210,ORPHA:255210,11,MT-ATP6,"[ATP6, ATPase-6, Su6m, mitochondrially encoded ATP synthase membrane subunit a]",mitochondrially encoded ATP synthase membrane subunit 6,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:19433277, PMID:20301352]",516060,ENSG00000198899,801,P00846,P00846,HGNC:7414 +GARD:0003671,Orphanet,255210,ORPHA:255210,11,MT-ND5,"[NAD5, NADH-ubiquinone oxidoreductase chain 5, ND5, complex I ND5 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:11938446, PMID:14520659, PMID:20301352]",516005,ENSG00000198786,,P03915,P03915,HGNC:7461 +GARD:0003671,Orphanet,255210,ORPHA:255210,11,MT-ND1,"[NAD1, NADH-ubiquinone oxidoreductase chain 1, ND1, complex I ND1 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301352, PMID:24830958]",516000,ENSG00000198888,,P03886,P03886,HGNC:7455 +GARD:0003671,Orphanet,255210,ORPHA:255210,11,MT-ND6,"[NAD6, NADH-ubiquinone oxidoreductase chain 6, ND6, complex I ND6 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:14595656, PMID:20301352, PMID:23813926]",516006,ENSG00000198695,,P03923,P03923,HGNC:7462 +GARD:0003671,Orphanet,255210,ORPHA:255210,11,MT-TK,[trnK],mitochondrially encoded tRNA-Lys (AAA/G),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301352, PMID:24374964]",590060,ENSG00000210156,,,,HGNC:7489 +GARD:0003672,Orphanet,90031,ORPHA:90031,1,HK1,,hexokinase 1,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12393545],142600,ENSG00000156515,,P19367,P19367,HGNC:4922 +GARD:0003681,Orphanet,1933,ORPHA:1933,1,SUCLA2,[succinate--CoA ligase (ADP-forming)],succinate-CoA ligase ADP-forming subunit beta,gene with protein product,13q14.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:17287286, PMID:20301762]",603921,ENSG00000136143,,Q9P2R7,Q9P2R7,HGNC:11448 +GARD:0003684,Orphanet,746,ORPHA:746,2,HADHA,"[GBP, LCEH, LCHAD, MTPA, gastrin-binding protein, long-chain 2-enoyl-CoA hydratase, long-chain-3-hydroxyacyl-CoA dehydrogenase, mitochondrial trifunctional protein, alpha subunit]",hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,,600890,ENSG00000084754,,P40939,P40939,HGNC:4801 +GARD:0003684,Orphanet,746,ORPHA:746,2,HADHB,"[MTPB, mitochondrial trifunctional protein, beta subunit]",hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,,143450,ENSG00000138029,,P55084,P55084,HGNC:4803 +GARD:0003687,Orphanet,741,ORPHA:741,1,DCHS1,"[CDHR6, FIB1, FLJ11790, KIAA1773, cadherin-related family member 6]",dachsous cadherin-related 1,gene with protein product,11p15.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26258302],603057,ENSG00000166341,,Q96JQ0,,HGNC:13681 +GARD:0003688,Orphanet+OMIM,157700,OMIM:157700,1,MMVP1,"[MVP, PMV]","Mitral valve prolapse, myxomatous 1",unknown,16p12.1-p11.2,The disease phenotype itself was mapped,Unknown,,157700,,,,,GeneID:50951 +GARD:0003690,Orphanet,1879,ORPHA:1879,1,LEMD3,"[MAN antigen 1, MAN1, inner nuclear membrane protein Man1]",LEM domain containing 3,gene with protein product,12q14.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15489854, PMID:17087626]",607844,ENSG00000174106,,Q9Y2U8,Q9Y2U8,HGNC:28887 +GARD:0003692,Orphanet,178364,ORPHA:178364,1,OTX2,,orthodenticle homeobox 2,gene with protein product,14q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15846561, PMID:20396904]",600037,ENSG00000165588,,P32243,,HGNC:8522 +GARD:0003697,Orphanet,552,ORPHA:552,13,APPL1,"[APPL, DCC-interacting protein 13-alpha]","adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",gene with protein product,3p14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26073777],604299,ENSG00000157500,,Q9UKG1,Q9UKG1,HGNC:24035 +GARD:0003697,Orphanet,552,ORPHA:552,13,PAX4,[MODY9],paired box 4,gene with protein product,7q32.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17426099, PMID:21263211, PMID:22521316, PMID:25041077]",167413,ENSG00000106331,,O43316,O43316,HGNC:8618 +GARD:0003697,Orphanet,552,ORPHA:552,13,PDX1,"[IDX-1, MODY4, PDX-1, STF-1, somatostatin transcription factor 1]",pancreatic and duodenal homeobox 1,gene with protein product,13q12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21844708, PMID:22498247]",600733,ENSG00000139515,,P52945,P52945,HGNC:6107 +GARD:0003697,Orphanet,552,ORPHA:552,13,HNF4A,"[HNF4, NR2A1]",hepatocyte nuclear factor 4 alpha,gene with protein product,20q13.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:21844708, PMID:22498247]",600281,ENSG00000101076,608,P41235,P41235,HGNC:5024 +GARD:0003697,Orphanet,552,ORPHA:552,13,GCK,"[HK4, hexokinase 4]",glucokinase,gene with protein product,7p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:21844708, PMID:22498247]",138079,ENSG00000106633,2798,P35557,P35557,HGNC:4195 +GARD:0003697,Orphanet,552,ORPHA:552,13,INS,,insulin,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:22498247],176730,ENSG00000254647,,P01308,P01308,HGNC:6081 +GARD:0003697,Orphanet,552,ORPHA:552,13,BLK,[MGC10442],"BLK proto-oncogene, Src family tyrosine kinase",gene with protein product,8p23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19667185],191305,ENSG00000136573,1940,P51451,P51451,HGNC:1057 +GARD:0003697,Orphanet,552,ORPHA:552,13,HNF1A,"[HNF1, HNF1a, LFB1]",HNF1 homeobox A,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:21844708, PMID:22498247]",142410,ENSG00000135100,,P20823,P20823,HGNC:11621 +GARD:0003697,Orphanet,552,ORPHA:552,13,KLF11,"[MODY7, Tieg3]",Kruppel like factor 11,gene with protein product,2p25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21844708],603301,ENSG00000172059,,O14901,,HGNC:11811 +GARD:0003697,Orphanet,552,ORPHA:552,13,ABCC8,"[ABC36, HHF1, HI, MRP8, PHHI, SUR1, TNDM2, sulfonylurea receptor (hyperinsulinemia)]",ATP binding cassette subfamily C member 8,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21989597],600509,ENSG00000006071,2594,Q09428,Q09428,HGNC:59 +GARD:0003697,Orphanet,552,ORPHA:552,13,NEUROD1,"[BETA2, BHF-1, MODY6, NeuroD, bHLHa3, beta-cell E-box transactivator 2, neurogenic helix-loop-helix protein NEUROD]",neuronal differentiation 1,gene with protein product,2q31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21844708, PMID:22498247]",601724,ENSG00000162992,,Q13562,Q13562,HGNC:7762 +GARD:0003697,Orphanet,552,ORPHA:552,13,CEL,"[BSSL, MODY8, bile salt-stimulated lipase]",carboxyl ester lipase,gene with protein product,9q34.13,Disease-causing germline mutation(s) in,Assessed,[PMID:21844708],114840,ENSG00000170835,2872,P19835,P19835,HGNC:1848 +GARD:0003697,Orphanet,552,ORPHA:552,13,KCNJ11,"[ATP-sensitive inward rectifier potassium channel 11, BIR, Kir6.2, beta-cell inward rectifier]",potassium inwardly rectifying channel subfamily J member 11,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22701567],600937,ENSG00000187486,442,Q14654,Q14654,HGNC:6257 +GARD:0003699,Orphanet,2059,ORPHA:2059,1,PIGN,"[MCD4, MDC4, PIG-N]",phosphatidylinositol glycan anchor biosynthesis class N,gene with protein product,18q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:27038415],606097,ENSG00000197563,,O95427,O95427,HGNC:8967 +GARD:0003701,Orphanet,2751,ORPHA:2751,1,NEK1,"[KIAA1901, NY-REN-55]",NIMA related kinase 1,gene with protein product,4q33,Disease-causing germline mutation(s) in,Assessed,[PMID:27530628],604588,ENSG00000137601,2114,Q96PY6,Q96PY6,HGNC:7744 +GARD:0003746,Orphanet,1617,ORPHA:1617,1,TBR1,,T-box brain transcription factor 1,gene with protein product,2q24.2,Candidate gene tested in,Not yet assessed,[PMID:24458984],604616,ENSG00000136535,,Q16650,,HGNC:11590 +GARD:0003764,Orphanet,251056,ORPHA:251056,1,ARID1B,"[6A3-5, BAF250b, DAN15, ELD/OSA1, KIAA1235, SMARCF2, p250R]",AT-rich interaction domain 1B,gene with protein product,6q25.3,Role in the phenotype of,Not yet assessed,[PMID:22405089],614556,ENSG00000049618,,Q8NFD5,Q8NFD5,HGNC:18040 +GARD:0003769,Orphanet,251071,ORPHA:251071,1,GATA4,,GATA binding protein 4,gene with protein product,8p23.1,Role in the phenotype of,Assessed,"[PMID:10090897, PMID:19606479]",600576,ENSG00000136574,,P43694,P43694,HGNC:4173 +GARD:0003785,Orphanet,309297,ORPHA:309297,1,GALNS,"[GALNAC6S, GAS, GalN6S, Morquio syndrome, N-acetylgalactosamine-6-sulfatase, chondroitinase, chondroitinsulfatase, galactose-6-sulfate sulfatase, mucopolysaccharidosis type IVA]",galactosamine (N-acetyl)-6-sulfatase,gene with protein product,16q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23844448],612222,ENSG00000141012,2765,P34059,P34059,HGNC:4122 +GARD:0003786,Orphanet,309310,ORPHA:309310,1,GLB1,"[EBP, elastin binding protein]",galactosidase beta 1,gene with protein product,3p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24156116],611458,ENSG00000170266,,P16278,P16278,HGNC:4298 +GARD:0003788,Orphanet,2570,ORPHA:2570,1,GPKOW,"[G patch domain containing 5, GPATC5, GPATCH5, Mos2, Spp2, T54]",G-patch domain and KOW motifs,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:28612833],301003,ENSG00000068394,,Q92917,Q92917,HGNC:30677 +GARD:0003818,Orphanet,2774,ORPHA:2774,1,MAFB,,MAF bZIP transcription factor B,gene with protein product,20q12,Disease-causing germline mutation(s) in,Assessed,[PMID:22387013],608968,ENSG00000204103,,Q9Y5Q3,Q9Y5Q3,HGNC:6408 +GARD:0003829,Orphanet,652,ORPHA:652,5,CDKN2B,"[CDK4I, INK4B, MTS2, P15, TP15, p15INK4b]",cyclin dependent kinase inhibitor 2B,gene with protein product,9p21.3,Candidate gene tested in,Not yet assessed,[PMID:19141585],600431,ENSG00000147883,,P42772,P42772,HGNC:1788 +GARD:0003829,Orphanet,652,ORPHA:652,5,CDKN1A,"[CAP20, CIP1, P21, SDI1, WAF1, p21, p21CIP1, p21Cip1/Waf1]",cyclin dependent kinase inhibitor 1A,gene with protein product,6p21.2,Candidate gene tested in,Not yet assessed,[PMID:19141585],116899,ENSG00000124762,,P38936,P38936,HGNC:1784 +GARD:0003829,Orphanet,652,ORPHA:652,5,CDKN1B,"[KIP1, P27KIP1]",cyclin dependent kinase inhibitor 1B,gene with protein product,12p13.1,Candidate gene tested in,Not yet assessed,"[PMID:22026581, PMID:25824098]",600778,ENSG00000111276,,P46527,P46527,HGNC:1785 +GARD:0003829,Orphanet,652,ORPHA:652,5,MEN1,[menin],menin 1,gene with protein product,11q13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301710],613733,ENSG00000133895,,O00255,O00255,HGNC:7010 +GARD:0003829,Orphanet,652,ORPHA:652,5,CDKN2C,"[INK4C, p18]",cyclin dependent kinase inhibitor 2C,gene with protein product,1p32.3,Candidate gene tested in,Not yet assessed,[PMID:19141585],603369,ENSG00000123080,,P42773,P42773,HGNC:1789 +GARD:0003834,Orphanet,33108,ORPHA:33108,6,CHRNG,"[acetylcholine receptor, nicotinic, gamma (muscle)]",cholinergic receptor nicotinic gamma subunit,gene with protein product,2q37.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16826531],100730,ENSG00000196811,475,P07510,P07510,HGNC:1967 +GARD:0003834,Orphanet,33108,ORPHA:33108,6,CHRND,"[acetylcholine receptor, nicotinic, delta (muscle)]",cholinergic receptor nicotinic delta subunit,gene with protein product,2q37.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18252226],100720,ENSG00000135902,476,Q07001,Q07001,HGNC:1965 +GARD:0003834,Orphanet,33108,ORPHA:33108,6,NEB,"[NEB177D, nemaline myopathy type 2]",nebulin,gene with protein product,2q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28336317],161650,ENSG00000183091,,P20929,P20929,HGNC:7720 +GARD:0003834,Orphanet,33108,ORPHA:33108,6,RYR1,"[PPP1R137, RYR, protein phosphatase 1, regulatory subunit 137]",ryanodine receptor 1,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26932181],180901,ENSG00000196218,747,P21817,P21817,HGNC:10483 +GARD:0003834,Orphanet,33108,ORPHA:33108,6,RAPSN,"[CMS1D, CMS1E, RNF205, rapsyn]",receptor associated protein of the synapse,gene with protein product,11p11.2,Candidate gene tested in,Not yet assessed,,601592,ENSG00000165917,,Q13702,,HGNC:9863 +GARD:0003834,Orphanet,33108,ORPHA:33108,6,CHRNA1,"[acetylcholine receptor, nicotinic, alpha 1 (muscle)]",cholinergic receptor nicotinic alpha 1 subunit,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18252226],100690,ENSG00000138435,462,P02708,P02708,HGNC:1955 +GARD:0003836,Orphanet,3237,ORPHA:3237,3,NOG,,noggin,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:20503332, PMID:25241334]",602991,ENSG00000183691,,Q13253,Q13253,HGNC:7866 +GARD:0003836,Orphanet,3237,ORPHA:3237,3,FGF9,[glia-activating factor],fibroblast growth factor 9,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,[PMID:19589401],600921,ENSG00000102678,,P31371,P31371,HGNC:3687 +GARD:0003836,Orphanet,3237,ORPHA:3237,3,GDF5,"[BMP14, CDMP1, cartilage-derived morphogenetic protein-1]",growth differentiation factor 5,gene with protein product,20q11.22,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:16532400],601146,ENSG00000125965,,P43026,P43026,HGNC:4220 +GARD:0003843,Orphanet,258,ORPHA:258,1,LAMA2,"[congenital muscular dystrophy, merosin]",laminin subunit alpha 2,gene with protein product,6q22.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:22675738, PMID:24223650]",156225,ENSG00000196569,,P24043,P24043,HGNC:6482 +GARD:0003844,Orphanet,1878,ORPHA:1878,1,TRIM32,"[BBS11, HT2A, TATIP]",tripartite motif containing 32,gene with protein product,9q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],602290,ENSG00000119401,,Q13049,Q13049,HGNC:16380 +GARD:0003851,Orphanet,119,ORPHA:119,1,SGCB,"[A3b, SGC]",sarcoglycan beta,gene with protein product,4q12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],600900,ENSG00000163069,,Q16585,Q16585,HGNC:10806 +GARD:0003856,Orphanet,64755,ORPHA:64755,1,ACTB,[ß-actin],actin beta,gene with protein product,7p22.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:28347698],102630,ENSG00000075624,,P60709,P60709,HGNC:132 +GARD:0003858,Orphanet,715,ORPHA:715,2,PHKG1,,phosphorylase kinase catalytic subunit gamma 1,gene with protein product,7p11.2,Candidate gene tested in,Not yet assessed,,172470,ENSG00000164776,2145,Q16816,Q16816,HGNC:8930 +GARD:0003858,Orphanet,715,ORPHA:715,2,PHKA1,,phosphorylase kinase regulatory subunit alpha 1,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,,311870,ENSG00000067177,,P46020,P46020,HGNC:8925 +GARD:0003863,Orphanet,2584,ORPHA:2584,3,CTLA4,"[CD, CD152, CTLA-4, GSE]",cytotoxic T-lymphocyte associated protein 4,gene with protein product,2q33.2,Part of a fusion gene in,Assessed,[PMID:26258847],123890,ENSG00000163599,2743,P16410,P16410,HGNC:2505 +GARD:0003863,Orphanet,2584,ORPHA:2584,3,CD28,[T-cell-specific surface glycoprotein],CD28 molecule,gene with protein product,2q33.2,Part of a fusion gene in,Assessed,[PMID:26258847],186760,ENSG00000178562,2863,P10747,P10747,HGNC:1653 +GARD:0003863,Orphanet,2584,ORPHA:2584,3,TNFRSF1B,"[CD120b, TNF-R-II, TNF-R75, TNFBR, TNFR80, p75]",TNF receptor superfamily member 1B,gene with protein product,1p36.22,Disease-causing somatic mutation(s) in,Assessed,[PMID:26258847],191191,ENSG00000028137,1871,P20333,P20333,HGNC:11917 +GARD:0003865,Orphanet,2585,ORPHA:2585,1,SAMD9L,"[FLJ39885, KIAA2005]",sterile alpha motif domain containing 9 like,gene with protein product,7q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27259050],611170,ENSG00000177409,,Q8IVG5,,HGNC:1349 +GARD:0003868,Orphanet,2587,ORPHA:2587,1,MPO,,myeloperoxidase,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,[PMID:7904599],606989,ENSG00000005381,2789,P05164,P05164,HGNC:7218 +GARD:0003872,Orphanet,280620,ORPHA:280620,1,GOSR2,"[Bos1, GS27]",golgi SNAP receptor complex member 2,gene with protein product,17q21.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21549339],604027,ENSG00000108433,,O14653,O14653,HGNC:4431 +GARD:0003875,Orphanet,2590,ORPHA:2590,1,ASAH1,"[AC, ACDase, FLJ21558, PHP32, acid ceramidase, acylsphingosine deacylase]",N-acylsphingosine amidohydrolase 1,gene with protein product,8p22,Disease-causing germline mutation(s) in,Assessed,[PMID:22703880],613468,ENSG00000104763,2491,Q13510,Q13510,HGNC:735 +GARD:0003876,Orphanet,308,ORPHA:308,3,PRICKLE1,"[EPM1B, FLJ31937, REST/NRSF interacting LIM domain protein, RILP]",prickle planar cell polarity protein 1,gene with protein product,12q12,Disease-causing germline mutation(s) in,Assessed,[PMID:18976727],608500,ENSG00000139174,,Q96MT3,Q96MT3,HGNC:17019 +GARD:0003876,Orphanet,308,ORPHA:308,3,SCARB2,"[HLGP85, LIMP-2, LIMPII, SR-BII, lysosomal integral membrane protein II, lysosome membrane protein 2]",scavenger receptor class B member 2,gene with protein product,4q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19847901],602257,ENSG00000138760,,Q14108,Q14108,HGNC:1665 +GARD:0003876,Orphanet,308,ORPHA:308,3,CSTB,"['Epilepsy, progressive myoclonic 1', CST6, PME, stefin B]",cystatin B,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301321, PMID:9012407]",601145,ENSG00000160213,,P04080,P04080,HGNC:2482 +GARD:0003881,Orphanet,2596,ORPHA:2596,1,MT-TE,[trnE],mitochondrially encoded tRNA-Glu (GAA/G),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:15048886],590025,ENSG00000210194,,,,HGNC:7479 +GARD:0003884,Orphanet,2593,ORPHA:2593,3,CASQ1,"[PDIB1, calmitine, calsequestrin 1, fast-twitch, skeletal muscle]",calsequestrin 1,gene with protein product,1q23.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:28895244, PMID:29039140]",114250,ENSG00000143318,,P31415,P31415,HGNC:1512 +GARD:0003884,Orphanet,2593,ORPHA:2593,3,ORAI1,"[CRACM1, FLJ14466, calcium release-activated calcium modulator 1]",ORAI calcium release-activated calcium modulator 1,gene with protein product,12q24.31,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24591628],610277,ENSG00000276045,2964,Q96D31,Q96D31,HGNC:25896 +GARD:0003884,Orphanet,2593,ORPHA:2593,3,STIM1,"[D11S4896E, GOK]",stromal interaction molecule 1,gene with protein product,11p15.4,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23332920],605921,ENSG00000167323,,Q13586,Q13586,HGNC:11386 +GARD:0003885,Orphanet,2598,ORPHA:2598,2,PUS1,[tRNA pseudouridine(38-40) synthase],pseudouridine synthase 1,gene with protein product,12q24.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21686963],608109,ENSG00000177192,,Q9Y606,Q9Y606,HGNC:15508 +GARD:0003885,Orphanet,2598,ORPHA:2598,2,YARS2,"[CGI-04, FLJ13995, mt-TyrRS, tyrosine tRNA ligase 2, mitochondrial]",tyrosyl-tRNA synthetase 2,gene with protein product,12p11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:20598274, PMID:22504945, PMID:24344687, PMID:24430573]",610957,ENSG00000139131,,Q9Y2Z4,Q9Y2Z4,HGNC:24249 +GARD:0003889,Orphanet,1358,ORPHA:1358,1,MYMK,"[TMEM226, transmembrane protein 226]","myomaker, myoblast fusion factor",gene with protein product,9q34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28681861],615345,ENSG00000187616,,A6NI61,,HGNC:33778 +GARD:0003892,Orphanet,25980,ORPHA:25980,1,VMA21,[XMEA],vacuolar ATPase assembly factor VMA21,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:23315026],300913,ENSG00000160131,,Q3ZAQ7,,HGNC:22082 +GARD:0003903,Orphanet,79281,ORPHA:79281,1,NAGA,"[D22S674, alpha-galactosidase B]",alpha-N-acetylgalactosaminidase,gene with protein product,22q13.2,Disease-causing germline mutation(s) in,Assessed,,104170,ENSG00000198951,,P17050,,HGNC:7631 +GARD:0003904,Orphanet,647,ORPHA:647,1,NBN,"[AT-V1, AT-V2, ATV]",nibrin,gene with protein product,8q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301355],602667,ENSG00000104320,,O60934,O60934,HGNC:7652 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFS4,"[AQDQ, CI-18, complex I 18kDa subunit]",NADH:ubiquinone oxidoreductase subunit S4,gene with protein product,5q11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22644603, PMID:9463323]",602694,ENSG00000164258,,O43181,O43181,HGNC:7711 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFS1,"[CI-75k, NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial, complex I 75kDa subunit]",NADH:ubiquinone oxidoreductase core subunit S1,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20382551, PMID:22644603]",157655,ENSG00000023228,,P28331,P28331,HGNC:7707 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFV2,"[CI-24k, NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial, complex I 24kDa subunit]",NADH:ubiquinone oxidoreductase core subunit V2,gene with protein product,18p11.22,Disease-causing germline mutation(s) in,Assessed,"[PMID:12754703, PMID:22644603, PMID:26008862]",600532,ENSG00000178127,,P19404,P19404,HGNC:7717 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFS3,"[CI-30, NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial, complex I 30kDa subunit]",NADH:ubiquinone oxidoreductase core subunit S3,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22499348],603846,ENSG00000213619,,O75489,O75489,HGNC:7710 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFB10,"[PDSW, complex I PDSW subunit]",NADH:ubiquinone oxidoreductase subunit B10,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28040730],603843,ENSG00000140990,,O96000,O96000,HGNC:7696 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,TIMMDC1,[FLJ22597],translocase of inner mitochondrial membrane domain containing 1,gene with protein product,3q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28604674],615534,ENSG00000113845,,Q9NPL8,Q9NPL8,HGNC:1321 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFAF1,"[CGI-65, CIA30]",NADH:ubiquinone oxidoreductase complex assembly factor 1,gene with protein product,15q15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17557076],606934,ENSG00000137806,,Q9Y375,Q9Y375,HGNC:18828 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFAF5,[dJ842G6.1],NADH:ubiquinone oxidoreductase complex assembly factor 5,gene with protein product,20p12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18940309, PMID:22644603]",612360,ENSG00000101247,,Q5TEU4,Q5TEU4,HGNC:15899 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFAF3,"[2P1, DKFZP564J0123, E3-3, MGC10527]",NADH:ubiquinone oxidoreductase complex assembly factor 3,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:19463981, PMID:22644603]",612911,ENSG00000178057,,Q9BU61,Q9BU61,HGNC:29918 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFAF8,,NADH:ubiquinone oxidoreductase complex assembly factor 8,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31866046],618461,ENSG00000224877,,A1L188,,HGNC:33551 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,TMEM126B,[HT007],transmembrane protein 126B,gene with protein product,11q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:27374773, PMID:27374774]",615533,ENSG00000171204,,Q8IUX1,Q8IUX1,HGNC:30883 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFV1,"[CI-51K, NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial, complex I 51kDa subunit]",NADH:ubiquinone oxidoreductase core subunit V1,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22644603],161015,ENSG00000167792,,P49821,P49821,HGNC:7716 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,MT-ND2,"[NAD2, NADH-ubiquinone oxidoreductase chain 2, ND2, complex I ND2 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:12192017, PMID:15781840]",516001,ENSG00000198763,,P03891,P03891,HGNC:7456 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,MT-ND3,"[NAD3, NADH-ubiquinone oxidoreductase chain 3, ND3, complex I ND3 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:14705112],516002,ENSG00000198840,,P03897,P03897,HGNC:7458 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFB3,"[B12, Complex I B12 subunit, complex I B12 subunit]",NADH:ubiquinone oxidoreductase subunit B3,gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:22277967, PMID:22499348]",603839,ENSG00000119013,,O43676,O43676,HGNC:7698 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFB9,"[B22, Complex I B22 subunit, LYRM3, UQOR22, complex I B22 subunit]",NADH:ubiquinone oxidoreductase subunit B9,gene with protein product,8q24.13,Disease-causing germline mutation(s) in,Assessed,[PMID:22200994],601445,ENSG00000147684,,Q9Y6M9,Q9Y6M9,HGNC:7704 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFS2,"[CI-49, NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial, complex I 49kDa subunit]",NADH:ubiquinone oxidoreductase core subunit S2,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15576045, PMID:22644603]",602985,ENSG00000158864,,O75306,O75306,HGNC:7708 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFAF2,"[B17.2L, MMTN, Myc-induced mitochondrial protein, mimitin]",NADH:ubiquinone oxidoreductase complex assembly factor 2,gene with protein product,5q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16200211],609653,ENSG00000164182,,Q8N183,Q8N183,HGNC:28086 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,FOXRED1,[H17],FAD dependent oxidoreductase domain containing 1,gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20858599],613622,ENSG00000110074,,Q96CU9,,HGNC:26927 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFB11,"[ESSS, NP17.3, Np15, complex I NP17.3 subunit]",NADH:ubiquinone oxidoreductase subunit B11,gene with protein product,Xp11.3,Candidate gene tested in,Not yet assessed,[PMID:26741492],300403,ENSG00000147123,,Q9NX14,Q9NX14,HGNC:20372 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFA6,"[B14, CI-B14, LYRM6, NADHB14, complex I B14 subunit]",NADH:ubiquinone oxidoreductase subunit A6,gene with protein product,22q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30245030],602138,ENSG00000184983,,P56556,P56556,HGNC:7690 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFA11,"[B14.7, complex I B14.7 subunit]",NADH:ubiquinone oxidoreductase subunit A11,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:18306244, PMID:22644603]",612638,ENSG00000174886,,Q86Y39,Q86Y39,HGNC:20371 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,MT-ND1,"[NAD1, NADH-ubiquinone oxidoreductase chain 1, ND1, complex I ND1 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:10775530, PMID:16492986]",516000,ENSG00000198888,,P03886,P03886,HGNC:7455 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFAF4,"[HRPAP20, HSPC125, My013, bA22L21.1]",NADH:ubiquinone oxidoreductase complex assembly factor 4,gene with protein product,6q16.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18179882, PMID:22644603]",611776,ENSG00000123545,,Q9P032,Q9P032,HGNC:21034 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFS7,"[CI-20, FLJ45860, FLJ46880, NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial, PSST, complex I 20kDa subunit]",NADH:ubiquinone oxidoreductase core subunit S7,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22644603],601825,ENSG00000115286,,O75251,O75251,HGNC:7714 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFS6,"[CI-13kA, NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial, complex I 13kDa subunit A]",NADH:ubiquinone oxidoreductase subunit S6,gene with protein product,5p15.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:15372108, PMID:19259137, PMID:22644603]",603848,ENSG00000145494,,O75380,O75380,HGNC:7713 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NUBPL,"[FLJ12660, IND1, huInd1, iron-sulfur protein required for NADH dehydrogenase]","NUBP iron-sulfur cluster assembly factor, mitochondrial",gene with protein product,14q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:20818383, PMID:22644603, PMID:23553477]",613621,ENSG00000151413,,Q8TB37,Q8TB37,HGNC:20278 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFA1,"['NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)', CI-MWFE, MWFE, NADH:ubiquinone oxidoreductase (complex 1), complex I MWFE subunit, type I dehydrogenase]",NADH:ubiquinone oxidoreductase subunit A1,gene with protein product,Xq24,Disease-causing germline mutation(s) in,Assessed,"[PMID:17262856, PMID:19185523, PMID:21596602, PMID:22644603]",300078,ENSG00000125356,,O15239,O15239,HGNC:7683 +GARD:0003908,Orphanet,2609,ORPHA:2609,29,NDUFS8,"[CI-23k, NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial, TYKY, complex I 23kDa subunit]",NADH:ubiquinone oxidoreductase core subunit S8,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22499348, PMID:22644603]",602141,ENSG00000110717,,O00217,O00217,HGNC:7715 +GARD:0003912,Orphanet,69087,ORPHA:69087,1,KRT14,"[epidermolysis bullosa simplex, Dowling-Meara, Koebner]",keratin 14,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,,148066,ENSG00000186847,,P02533,P02533,HGNC:6416 +GARD:0003916,Orphanet+OMIM,256040,OMIM:256040,1,PSMB8,"[D6S216E, PSMB5i, RING10, beta5i, proteasome subunit β5i]",proteasome 20S subunit beta 8,gene with protein product,6p21.32,The molecular basis of the disorder is known,Unknown,,177046,ENSG00000204264,objectId:2408,P28062,P28062,HGNC:9545 +GARD:0003919,Orphanet,231671,ORPHA:231671,2,GHRHR,,growth hormone releasing hormone receptor,gene with protein product,7p14.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19762173, PMID:22139958]",139191,ENSG00000106128,247,Q02643,Q02643,HGNC:4266 +GARD:0003919,Orphanet,231671,ORPHA:231671,2,GH1,"[GH, GH-N, GHN, hGH-N, pituitary growth hormone, somatotropin]",growth hormone 1,gene with protein product,17q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19762173, PMID:22139958]",139250,ENSG00000259384,,P01241,P01241,HGNC:4261 +GARD:0003928,Orphanet,99811,ORPHA:99811,1,FLNA,"[ABP-280, actin binding protein 280, alpha filamin]",filamin A,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:17357080],300017,ENSG00000196924,,P21333,P21333,HGNC:3754 +GARD:0003931,Orphanet,85408,ORPHA:85408,7,STAT4,,signal transducer and activator of transcription 4,gene with protein product,2q32.2-q32.3,Major susceptibility factor in,Assessed,[PMID:23603761],600558,ENSG00000138378,,Q14765,Q14765,HGNC:11365 +GARD:0003931,Orphanet,85408,ORPHA:85408,7,PTPN2,"[TC-PTP, TCELLPTP, TCPTP]",protein tyrosine phosphatase non-receptor type 2,gene with protein product,18p11.21,Major susceptibility factor in,Assessed,[PMID:22294642],176887,ENSG00000175354,,P17706,P17706,HGNC:9650 +GARD:0003931,Orphanet,85408,ORPHA:85408,7,IL2RA,[CD25],interleukin 2 receptor subunit alpha,gene with protein product,10p15.1,Major susceptibility factor in,Assessed,[PMID:22294642],147730,ENSG00000134460,1695,P01589,P01589,HGNC:6008 +GARD:0003931,Orphanet,85408,ORPHA:85408,7,CD247,"[CD3H, CD3Q, T-cell surface glycoprotein CD3 zeta chain]",CD247 molecule,gene with protein product,1q24.2,Major susceptibility factor in,Assessed,[PMID:22294642],186780,ENSG00000198821,3142,P20963,P20963,HGNC:1677 +GARD:0003931,Orphanet,85408,ORPHA:85408,7,PTPN22,"[Lyp, Lyp1, Lyp2]",protein tyrosine phosphatase non-receptor type 22,gene with protein product,1p13.2,Major susceptibility factor in,Assessed,[PMID:23603761],600716,ENSG00000134242,3084,Q9Y2R2,Q9Y2R2,HGNC:9652 +GARD:0003931,Orphanet,85408,ORPHA:85408,7,IL2RB,[CD122],interleukin 2 receptor subunit beta,gene with protein product,22q12.3,Major susceptibility factor in,Not yet assessed,[PMID:23603761],146710,ENSG00000100385,1696,P14784,P14784,HGNC:6009 +GARD:0003931,Orphanet,85408,ORPHA:85408,7,ANKRD55,[FLJ11795],ankyrin repeat domain 55,gene with protein product,5q11.2,Major susceptibility factor in,Not yet assessed,[PMID:23603761],615189,ENSG00000164512,,Q3KP44,Q3KP44,HGNC:25681 +GARD:0003936,Orphanet,2849,ORPHA:2849,1,DIS3L2,"[FLJ36974, MGC42174]",DIS3 like 3'-5' exoribonuclease 2,gene with protein product,2q37.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22306653],614184,ENSG00000144535,,Q8IYB7,,HGNC:28648 +GARD:0003946,Orphanet,656,ORPHA:656,31,PLCE1,"[KIAA1516, NPHS3, Nephrosis type 3, PLCE, nephrosis type 3, phosphoinositide phospholipase C]",phospholipase C epsilon 1,gene with protein product,10q23.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20591883],608414,ENSG00000138193,1412,Q9P212,Q9P212,HGNC:17175 +GARD:0003946,Orphanet,656,ORPHA:656,31,CD2AP,[CMS],CD2 associated protein,gene with protein product,6p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17713465],604241,ENSG00000198087,,Q9Y5K6,Q9Y5K6,HGNC:14258 +GARD:0003946,Orphanet,656,ORPHA:656,31,COQ8B,"[COQ8, FLJ12229]",coenzyme Q8B,gene with protein product,19q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24270420],615567,ENSG00000123815,1928,Q96D53,,HGNC:19041 +GARD:0003946,Orphanet,656,ORPHA:656,31,PTPRO,"[GLEPP1, NPHS6, PTP-U2, PTP-oc, PTPU2, osteoclastic transmembrane protein-tyrosine phosphatase]",protein tyrosine phosphatase receptor type O,gene with protein product,12p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21722858],600579,ENSG00000151490,1863,Q16827,Q16827,HGNC:9678 +GARD:0003946,Orphanet,656,ORPHA:656,31,TBC1D8B,"[FLJ20298, GRAMD8B, RP11-321G1.1]",TBC1 domain family member 8B,gene with protein product,Xq22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30661770],301027,ENSG00000133138,,Q0IIM8,Q0IIM8,HGNC:24715 +GARD:0003946,Orphanet,656,ORPHA:656,31,CRB2,"[FLJ16786, FLJ38464]",crumbs cell polarity complex component 2,gene with protein product,9q33.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25557779],609720,ENSG00000148204,,Q5IJ48,,HGNC:18688 +GARD:0003946,Orphanet,656,ORPHA:656,31,PAX2,,paired box 2,gene with protein product,10q24.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24676634],167409,ENSG00000075891,,Q02962,,HGNC:8616 +GARD:0003946,Orphanet,656,ORPHA:656,31,NUP85,"[FLJ12549, NUP75]",nucleoporin 85,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30179222],170285,ENSG00000125450,,Q9BW27,Q9BW27,HGNC:8734 +GARD:0003946,Orphanet,656,ORPHA:656,31,NUP160,"[FLJ22583, KIAA0197]",nucleoporin 160,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30179222],607614,ENSG00000030066,,Q12769,Q12769,HGNC:18017 +GARD:0003946,Orphanet,656,ORPHA:656,31,NUP133,[FLJ10814],nucleoporin 133,gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,[PMID:30179222],607613,ENSG00000069248,,Q8WUM0,Q8WUM0,HGNC:18016 +GARD:0003946,Orphanet,656,ORPHA:656,31,MAGI2,"[ACVRIP1, AIP1, ARIP1, KIAA0705, MAGI-2]","membrane associated guanylate kinase, WW and PDZ domain containing 2",gene with protein product,7q21.11,Disease-causing germline mutation(s) in,Assessed,[PMID:29773874],606382,ENSG00000187391,,Q86UL8,Q86UL8,HGNC:18957 +GARD:0003946,Orphanet,656,ORPHA:656,31,DAAM2,[KIAA0381],dishevelled associated activator of morphogenesis 2,gene with protein product,6p21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:33232676],606627,ENSG00000146122,,Q86T65,,HGNC:18143 +GARD:0003946,Orphanet,656,ORPHA:656,31,TRPC6,[TRP6],transient receptor potential cation channel subfamily C member 6,gene with protein product,11q22.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:15879175, PMID:15924139]",603652,ENSG00000137672,491,Q9Y210,Q9Y210,HGNC:12338 +GARD:0003946,Orphanet,656,ORPHA:656,31,EMP2,[XMP],epithelial membrane protein 2,gene with protein product,16p13.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24814193],602334,ENSG00000213853,,P54851,,HGNC:3334 +GARD:0003946,Orphanet,656,ORPHA:656,31,ARHGDIA,[RHOGDI],Rho GDP dissociation inhibitor alpha,gene with protein product,17q25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23434736],601925,ENSG00000141522,,P52565,P52565,HGNC:678 +GARD:0003946,Orphanet,656,ORPHA:656,31,WT1,"[AWT1, NPHS4, WAGR, WIT-2]",WT1 transcription factor,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,[PMID:20150449],607102,ENSG00000184937,,P19544,P19544,HGNC:12796 +GARD:0003946,Orphanet,656,ORPHA:656,31,ARHGAP24,"[DKFZP564B1162, FLJ33877, FilGAP]",Rho GTPase activating protein 24,gene with protein product,4q21.23-q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21911940],610586,ENSG00000138639,,Q8N264,Q8N264,HGNC:25361 +GARD:0003946,Orphanet,656,ORPHA:656,31,COL4A3,[tumstatin],collagen type IV alpha 3 chain,gene with protein product,2q36.3,Modifying germline mutation in,Assessed,[PMID:25407002],120070,ENSG00000169031,,Q01955,Q01955,HGNC:2204 +GARD:0003946,Orphanet,656,ORPHA:656,31,ANLN,"[ANILLIN, Scraps, scra]",anillin actin binding protein,gene with protein product,7p14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24676636],616027,ENSG00000011426,,Q9NQW6,,HGNC:14082 +GARD:0003946,Orphanet,656,ORPHA:656,31,NPHS2,"[PDCN, SRN1]","NPHS2 stomatin family member, podocin",gene with protein product,1q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:11805166],604766,ENSG00000116218,,Q9NP85,Q9NP85,HGNC:13394 +GARD:0003946,Orphanet,656,ORPHA:656,31,NPHS1,"[CNF, NPHN]","NPHS1 adhesion molecule, nephrin",gene with protein product,19q13.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:11854170, PMID:18614772, PMID:19812541]",602716,ENSG00000161270,,O60500,O60500,HGNC:7908 +GARD:0003946,Orphanet,656,ORPHA:656,31,APOL1,,apolipoprotein L1,gene with protein product,22q12.3,Major susceptibility factor in,Not yet assessed,"[PMID:20668430, PMID:26901816]",603743,ENSG00000100342,,O14791,O14791,HGNC:618 +GARD:0003946,Orphanet,656,ORPHA:656,31,ACTN4,,actinin alpha 4,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:10700177],604638,ENSG00000130402,,O43707,O43707,HGNC:166 +GARD:0003946,Orphanet,656,ORPHA:656,31,NUP37,"[FLJ22618, MGC5585]",nucleoporin 37,gene with protein product,12q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30179222],609264,ENSG00000075188,,Q8NFH4,Q8NFH4,HGNC:29929 +GARD:0003946,Orphanet,656,ORPHA:656,31,NUP93,"[KIAA0095, nuclear pore complex protein Nup93]",nucleoporin 93,gene with protein product,16q13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26878725],614351,ENSG00000102900,,Q8N1F7,Q8N1F7,HGNC:28958 +GARD:0003946,Orphanet,656,ORPHA:656,31,NUP205,"[KIAA0225, nuclear pore complex protein Nup205]",nucleoporin 205,gene with protein product,7q33,Disease-causing germline mutation(s) in,Assessed,[PMID:26878725],614352,ENSG00000155561,,Q92621,Q92621,HGNC:18658 +GARD:0003946,Orphanet,656,ORPHA:656,31,INF2,"[MGC13251, inverted formin 2]","inverted formin, FH2 and WH2 domain containing",gene with protein product,14q32.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20023659],610982,ENSG00000203485,,Q27J81,,HGNC:23791 +GARD:0003946,Orphanet,656,ORPHA:656,31,NUP107,"[NUP84, nuclear pore complex protein Nup107]",nucleoporin 107,gene with protein product,12q15,Disease-causing germline mutation(s) in,Assessed,[PMID:26411495],607617,ENSG00000111581,,P57740,P57740,HGNC:29914 +GARD:0003946,Orphanet,656,ORPHA:656,31,GAPVD1,"[DKFZP434C212, KIAA1521]",GTPase activating protein and VPS9 domains 1,gene with protein product,9q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29959197],611714,ENSG00000165219,,Q14C86,Q14C86,HGNC:23375 +GARD:0003946,Orphanet,656,ORPHA:656,31,ANKFY1,"[ANKHZN, BTBD23, KIAA1255, RANK-5, ZFYVE14, rabankyrin-5]",ankyrin repeat and FYVE domain containing 1,gene with protein product,17p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:29959197],607927,ENSG00000185722,,Q9P2R3,Q9P2R3,HGNC:20763 +GARD:0003946,Orphanet,656,ORPHA:656,31,MYO1E,"[HuncM-IC, MGC104638, MYO1C, myosin-IC]",myosin IE,gene with protein product,15q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21756023],601479,ENSG00000157483,,Q12965,Q12965,HGNC:7599 +GARD:0003953,Orphanet,351,ORPHA:351,1,CTSA,"[carboxypeptidase C, carboxypeptidase Y-like kininase, carboxypeptidase-L, deamidase, lysosomal carboxypeptidase A, lysosomal protective protein, urinary kininase]",cathepsin A,gene with protein product,20q13.12,Disease-causing germline mutation(s) in,Assessed,,613111,ENSG00000064601,1581,P10619,P10619,HGNC:9251 +GARD:0003955,Orphanet+OMIM,162100,OMIM:162100,1,SEPTIN9,"[AF17q25, KIAA0991, MSF1, Ov/Br septin, PNUTL4, SeptD1]",septin 9,gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,604061,ENSG00000184640,,Q9UHD8,,HGNC:7323 +GARD:0003956,Orphanet,2388,ORPHA:2388,1,VPS13A,"[KIAA0986, chorein]",vacuolar protein sorting 13 homolog A,gene with protein product,9q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301561],605978,ENSG00000197969,,Q96RL7,,HGNC:1908 +GARD:0003957,Orphanet,35069,ORPHA:35069,1,PLA2G6,"[NBIA2, Neurodegeneration with brain iron accumulation 2, PARK14, PNPLA9, iPLA2, iPLA2beta, neurodegeneration with brain iron accumulation 2]",phospholipase A2 group VI,gene with protein product,22q13.1,Disease-causing germline mutation(s) in,Assessed,,603604,ENSG00000184381,1431,O60733,O60733,HGNC:9039 +GARD:0003971,Orphanet,2289,ORPHA:2289,1,NOTCH2NLC,,notch 2 N-terminal like C,gene with protein product,1q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31178126],618025,ENSG00000286219,,P0DPK4,,HGNC:53924 +GARD:0003972,Orphanet,255229,ORPHA:255229,1,MPV17,"[SYM1, glomerulosclerosis]",mitochondrial inner membrane protein MPV17,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22593919],137960,ENSG00000115204,,P39210,,HGNC:7224 +GARD:0003973,Orphanet,99950,ORPHA:99950,1,NDRG1,"[DRG1, NDR1, RTP, TDD5]",N-myc downstream regulated 1,gene with protein product,8q24.22,Disease-causing germline mutation(s) in,Assessed,"[PMID:10831399, PMID:20301641]",605262,ENSG00000104419,,Q92597,Q92597,HGNC:7679 +GARD:0003976,Orphanet,970,ORPHA:970,4,KIF1A,[UNC104],kinesin family member 1A,gene with protein product,2q37.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21089229],601255,ENSG00000130294,,Q12756,Q12756,HGNC:888 +GARD:0003976,Orphanet,970,ORPHA:970,4,WNK1,"[HSAN2, PPP1R167, protein phosphatase 1, regulatory subunit 167]",WNK lysine deficient protein kinase 1,gene with protein product,12p13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21089229],605232,ENSG00000060237,2280,Q9H4A3,Q9H4A3,HGNC:14540 +GARD:0003976,Orphanet,970,ORPHA:970,4,RETREG1,"[FLJ20152, JK1]",reticulophagy regulator 1,gene with protein product,5p15.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21089229],613114,ENSG00000154153,,Q9H6L5,,HGNC:25964 +GARD:0003976,Orphanet,970,ORPHA:970,4,SCN9A,"[ETHA, NE-NA, NENA, Nav1.7, PN1]",sodium voltage-gated channel alpha subunit 9,gene with protein product,2q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23596073],603415,ENSG00000169432,584,Q15858,Q15858,HGNC:10597 +GARD:0003979,Orphanet,98907,ORPHA:98907,1,ABHD5,"[CGI-58, NCIE2]","abhydrolase domain containing 5, lysophosphatidic acid acyltransferase",gene with protein product,3p21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:18606822],604780,ENSG00000011198,,Q8WTS1,Q8WTS1,HGNC:21396 +GARD:0003981,Orphanet,86788,ORPHA:86788,1,WAS,"[WASP, WASPA, eczema-thrombocytopenia]",WASP actin nucleation promoting factor,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:11242115],300392,ENSG00000015285,,P42768,P42768,HGNC:12731 +GARD:0003986,Orphanet,624,ORPHA:624,1,GNAQ,"[G-ALPHA-q, GAQ]",G protein subunit alpha q,gene with protein product,9q21.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:23656586],600998,ENSG00000156052,2914,P50148,P50148,HGNC:4390 +GARD:0003995,Orphanet,215,ORPHA:215,15,SAG,"[ARRESTIN, RP47, arrestin 1, rod arrestin]",S-antigen visual arrestin,gene with protein product,2q37.1,Candidate gene tested in,Not yet assessed,[PMID:19578023],181031,ENSG00000130561,,P10523,P10523,HGNC:10521 +GARD:0003995,Orphanet,215,ORPHA:215,15,LRIT3,"['fibronectin type III, immunoglobulin and leucine rich repeat domains 4', CSNB1F, FIGLER4, FLJ44691, Fibronectin type III, immunoglobulin and leucine rich repeat domains 4]","leucine rich repeat, Ig-like and transmembrane domains 3",gene with protein product,4q25,Disease-causing germline mutation(s) in,Assessed,[PMID:23246293],615004,ENSG00000183423,,Q3SXY7,,HGNC:24783 +GARD:0003995,Orphanet,215,ORPHA:215,15,GRM6,"[CSNB1B, GPRC1F, MGLUR6, mGlu6]",glutamate metabotropic receptor 6,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17405131],604096,ENSG00000113262,294,O15303,O15303,HGNC:4598 +GARD:0003995,Orphanet,215,ORPHA:215,15,NYX,"[CLRP, CSNB1A]",nyctalopin,gene with protein product,Xp11.4,Disease-causing germline mutation(s) in,Assessed,[PMID:20301423],300278,ENSG00000188937,,Q9GZU5,Q9GZU5,HGNC:8082 +GARD:0003995,Orphanet,215,ORPHA:215,15,CACNA2D4,,calcium voltage-gated channel auxiliary subunit alpha2delta 4,gene with protein product,12p13.33,Candidate gene tested in,Not yet assessed,[PMID:19578023],608171,ENSG00000151062,,Q7Z3S7,Q7Z3S7,HGNC:20202 +GARD:0003995,Orphanet,215,ORPHA:215,15,CABP4,[CSNB2B],calcium binding protein 4,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:16960802],608965,ENSG00000175544,,P57796,,HGNC:1386 +GARD:0003995,Orphanet,215,ORPHA:215,15,SLC24A1,"[CSNB1D, HsT17412, KIAA0702, NCKX, NCKX1, RODX]",solute carrier family 24 member 1,gene with protein product,15q22.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20850105],603617,ENSG00000074621,1045,O60721,O60721,HGNC:10975 +GARD:0003995,Orphanet,215,ORPHA:215,15,PDE6B,"[CSNB3, CSNBAD2, RP40, congenital stationary night blindness 3, autosomal dominant, rd1, rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta]",phosphodiesterase 6B,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:8075643],180072,ENSG00000133256,1313,P35913,P35913,HGNC:8786 +GARD:0003995,Orphanet,215,ORPHA:215,15,RHO,"[CSNBAD1, OPN2, opsin 2, rod pigment]",rhodopsin,gene with protein product,3q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:9888392],180380,ENSG00000163914,2963,P08100,P08100,HGNC:10012 +GARD:0003995,Orphanet,215,ORPHA:215,15,CACNA1F,"[CORDX3, CSNB2A, CSNBX2, Cav1.4, JM8, JMC8, OA2]",calcium voltage-gated channel subunit alpha1 F,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:20301423],300110,ENSG00000102001,531,O60840,O60840,HGNC:1393 +GARD:0003995,Orphanet,215,ORPHA:215,15,GPR179,[CSNB1E],G protein-coupled receptor 179,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:22325361, PMID:22325362]",614515,ENSG00000277399,211,Q6PRD1,,HGNC:31371 +GARD:0003995,Orphanet,215,ORPHA:215,15,GNB3,"[Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3, transducin beta chain 3]",G protein subunit beta 3,gene with protein product,12p13.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27063057],139130,ENSG00000111664,,P16520,P16520,HGNC:4400 +GARD:0003995,Orphanet,215,ORPHA:215,15,TRPM1,"[CSNB1C, LTRPC1]",transient receptor potential cation channel subfamily M member 1,gene with protein product,15q13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19896109, PMID:19896113]",603576,ENSG00000134160,493,Q7Z4N2,Q7Z4N2,HGNC:7146 +GARD:0003995,Orphanet,215,ORPHA:215,15,GRK1,"[GPRK1, RK]",G protein-coupled receptor kinase 1,gene with protein product,13q34,Candidate gene tested in,Not yet assessed,,180381,ENSG00000185974,1465,Q15835,Q15835,HGNC:10013 +GARD:0003995,Orphanet,215,ORPHA:215,15,GNAT1,[CSNBAD3],G protein subunit alpha transducin 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:22190596, PMID:8673138]",139330,ENSG00000114349,,P11488,P11488,HGNC:4393 +GARD:0004003,Orphanet,225,ORPHA:225,3,MT-TL1,[TRNL1],mitochondrially encoded tRNA-Leu (UUA/G) 1,Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:7910800],590050,ENSG00000209082,,,,HGNC:7490 +GARD:0004003,Orphanet,225,ORPHA:225,3,MT-TK,[trnK],mitochondrially encoded tRNA-Lys (AAA/G),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:9571188],590060,ENSG00000210156,,,,HGNC:7489 +GARD:0004003,Orphanet,225,ORPHA:225,3,MT-TE,[trnE],mitochondrially encoded tRNA-Glu (GAA/G),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:9353617],590025,ENSG00000210194,,,,HGNC:7479 +GARD:0004010,Orphanet,1947,ORPHA:1947,1,CLN8,"[FLJ39417, TLCD6]",CLN8 transmembrane ER and ERGIC protein,gene with protein product,8p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21990111],607837,ENSG00000182372,,Q9UBY8,,HGNC:2079 +GARD:0004011,Orphanet,79293,ORPHA:79293,1,LCAT,[phosphatidylcholine--sterol O-acyltransferase],lecithin-cholesterol acyltransferase,gene with protein product,16q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:9162740],606967,ENSG00000213398,,P04180,P04180,HGNC:6522 +GARD:0004017,Orphanet,198,ORPHA:198,1,ATP7A,"[copper pump 1, copper-transporting ATPase 1]",ATPase copper transporting alpha,gene with protein product,Xq21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301586],300011,ENSG00000165240,852,Q04656,Q04656,HGNC:869 +GARD:0004038,Orphanet,79432,ORPHA:79432,2,OCA2,"[BEY, BEY1, BEY2, EYCL, P-protein, melanocyte-specific transporter protein]",OCA2 melanosomal transmembrane protein,gene with protein product,15q12-q13.1,Disease-causing germline mutation(s) in,Assessed,,611409,ENSG00000104044,,Q04671,Q04671,HGNC:8101 +GARD:0004038,Orphanet,79432,ORPHA:79432,2,MC1R,"[MSH-R, alpha melanocyte stimulating hormone receptor]",melanocortin 1 receptor,gene with protein product,16q24.3,Modifying germline mutation in,Assessed,[PMID:12876664],155555,ENSG00000258839,282,Q01726,Q01726,HGNC:6929 +GARD:0004039,Orphanet,79433,ORPHA:79433,1,TYRP1,"[CATB, GP75, OCA3, TRP, b-PROTEIN]",tyrosinase related protein 1,gene with protein product,9p23,Disease-causing germline mutation(s) in,Assessed,,115501,ENSG00000107165,,P17643,P17643,HGNC:12450 +GARD:0004047,Orphanet,1154,ORPHA:1154,1,PIEZO2,"[FLJ23144, FLJ23403, FLJ34907, HsT748, HsT771]",piezo type mechanosensitive ion channel component 2,gene with protein product,18p11.22-p11.21,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23487782],613629,ENSG00000154864,2946,Q9H5I5,,HGNC:26270 +GARD:0004049,Orphanet+OMIM,257920,OMIM:257920,1,MASP1,"[C4/C2 activating component of Ra-reactive factor, MAP-1, MASP, MASP-3, Map44, mannose-binding lectin-associated serine protease 1]",MBL associated serine protease 1,gene with protein product,3q27.3,The molecular basis of the disorder is known,Unknown,,600521,ENSG00000127241,,P48740,P48740,HGNC:6901 +GARD:0004054,Orphanet,2721,ORPHA:2721,1,WNT10A,,Wnt family member 10A,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,"[PMID:17847007, PMID:24458874]",606268,ENSG00000135925,,Q9GZT5,Q9GZT5,HGNC:13829 +GARD:0004062,Orphanet,1186,ORPHA:1186,1,TWNK,"[FLJ21832, PEO, PEO1, T7 helicase-related protein with intramitochondrial nucleoid localization, TWINKLE, TWINL]",twinkle mtDNA helicase,gene with protein product,10q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301746],606075,ENSG00000107815,,Q96RR1,Q96RR1,HGNC:1160 +GARD:0004071,Orphanet,98755,ORPHA:98755,1,ATXN1,"[ATX1, D6S504E]",ataxin 1,gene with protein product,6p22.3,Disease-causing germline mutation(s) in,Assessed,,601556,ENSG00000124788,,P54253,P54253,HGNC:10548 +GARD:0004072,Orphanet,98756,ORPHA:98756,1,ATXN2,"[ATX2, trinucleotide repeat containing 13]",ataxin 2,gene with protein product,12q24.12,Disease-causing germline mutation(s) in,Assessed,,601517,ENSG00000204842,,Q99700,Q99700,HGNC:10555 +GARD:0004075,Orphanet,659,ORPHA:659,3,TRPV3,[VRL3],transient receptor potential cation channel subfamily V member 3,gene with protein product,17p13.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:22405088],607066,ENSG00000167723,509,Q8NET8,Q8NET8,HGNC:18084 +GARD:0004075,Orphanet,659,ORPHA:659,3,MBTPS2,"[S2P, site-2 protease]","membrane bound transcription factor peptidase, site 2",gene with protein product,Xp22.12,Disease-causing germline mutation(s) in,Assessed,[PMID:22931912],300294,ENSG00000012174,,O43462,O43462,HGNC:15455 +GARD:0004075,Orphanet,659,ORPHA:659,3,PERP,"[KCP1, KRTCAP1, PIGPC1, THW, dJ496H19.1, keratinocyte associated protein 1]",p53 apoptosis effector related to PMP22,gene with protein product,6q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30321533],609301,ENSG00000112378,,Q96FX8,Q96FX8,HGNC:17637 +GARD:0004076,Orphanet,93329,ORPHA:93329,1,GPC6,[glypican proteoglycan 6],glypican 6,gene with protein product,13q31.3-q32.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19481194],604404,ENSG00000183098,,Q9Y625,Q9Y625,HGNC:4454 +GARD:0004085,Orphanet,221046,ORPHA:221046,1,USB1,"[FLJ13154, HVSL motif containing 1, HVSL1, Mpn1, U six biogenesis 1, mutated in poikiloderma with neutropenia protein 1, poikiloderma with neutropenia]",U6 snRNA biogenesis phosphodiesterase 1,gene with protein product,16q21,Disease-causing germline mutation(s) in,Assessed,"[PMID:20004881, PMID:20503306]",613276,ENSG00000103005,,Q9BQ65,,HGNC:25792 +GARD:0004098,Orphanet,2746,ORPHA:2746,1,INPPL1,"[51C protein, SH2 domain-containing inositol 5'-phosphatase 2, SHIP2, phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2]",inositol polyphosphate phosphatase like 1,gene with protein product,11q13.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:23263569, PMID:23273567]",600829,ENSG00000165458,1459,O15357,O15357,HGNC:6080 +GARD:0004106,Orphanet,1475,ORPHA:1475,1,PAX2,,paired box 2,gene with protein product,10q24.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301624, PMID:22213154]",167409,ENSG00000075891,,Q02962,,HGNC:8616 +GARD:0004120,Orphanet,2919,ORPHA:2919,1,DDX59,"[DKFZP564B1023, ZNHIT5, zinc finger HIT-type containing 5]",DEAD-box helicase 59,gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23972372],615464,ENSG00000118197,,Q5T1V6,,HGNC:25360 +GARD:0004121,Orphanet,2750,ORPHA:2750,1,OFD1,"[71-7A, JBTS10, Joubert syndrome type 10]",OFD1 centriole and centriolar satellite protein,gene with protein product,Xp22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301367],300170,ENSG00000046651,,O75665,O75665,HGNC:2567 +GARD:0004130,Orphanet,1427,ORPHA:1427,1,COL11A2,[HKE5],collagen type XI alpha 2 chain,gene with protein product,6p21.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10677296, PMID:21438135]",120290,ENSG00000204248,,P13942,P13942,HGNC:2187 +GARD:0004133,Orphanet,251262,ORPHA:251262,1,ACAN,"[CSPGCP, aggrecan proteoglycan]",aggrecan,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20137779],155760,ENSG00000157766,,P16112,P16112,HGNC:319 +GARD:0004142,Orphanet,2645,ORPHA:2645,1,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:15625620],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0004148,Orphanet,2780,ORPHA:2780,1,AMER1,"[Adenomatous polyposis coli membrane recruitment 1, FLJ39827, RP11-403E24.2, WTX, Wilms Tumor on the X, adenomatous polyposis coli membrane recruitment 1]",APC membrane recruitment protein 1,gene with protein product,Xq11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:19079258],300647,ENSG00000184675,,Q5JTC6,Q5JTC6,HGNC:26837 +GARD:0004151,Orphanet,2783,ORPHA:2783,1,LRP5,"[BMND1, EVR4, HBM, LR3, OPS, OPTA1, VBCH2]",LDL receptor related protein 5,gene with protein product,11q13.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:12579474, PMID:21600326]",603506,ENSG00000162337,,O75197,O75197,HGNC:6697 +GARD:0004153,Orphanet+OMIM,259720,OMIM:259720,1,OSTM1,"[CLCN7 accessory beta subunit, GL, HSPC019, grey-lethal]",osteoclastogenesis associated transmembrane protein 1,gene with protein product,6q21,The molecular basis of the disorder is known,Unknown,,607649,ENSG00000081087,,Q86WC4,Q86WC4,HGNC:21652 +GARD:0004154,Orphanet,2785,ORPHA:2785,1,CA2,"[CA-II, CAII, Car2]",carbonic anhydrase 2,gene with protein product,8q21.2,Disease-causing germline mutation(s) in,Assessed,,611492,ENSG00000104267,3092,P00918,P00918,HGNC:1373 +GARD:0004156,Orphanet,210110,ORPHA:210110,3,TCIRG1,"[ATP6N1C, ATP6V0A3, Atp6i, OC-116, OC116, T-cell immune response cDNA 7, TIRC7, V-ATPase subunit a3, a3]","T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:24535816, PMID:25829125]",604592,ENSG00000110719,825,Q13488,Q13488,HGNC:11647 +GARD:0004156,Orphanet,210110,ORPHA:210110,3,PLEKHM1,[KIAA0356],pleckstrin homology and RUN domain containing M1,gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:17404618],611466,ENSG00000225190,,Q9Y4G2,,HGNC:29017 +GARD:0004156,Orphanet,210110,ORPHA:210110,3,CLCN7,"[CLC-7, CLC7, ClC-7, OPTA2, PPP1R63, protein phosphatase 1, regulatory subunit 63]",chloride voltage-gated channel 7,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:12522560, PMID:20301306]",602727,ENSG00000103249,706,P51798,P51798,HGNC:2025 +GARD:0004157,Orphanet+OMIM,259710,OMIM:259710,1,TNFSF11,"[CD254, ODF, OPGL, RANKL, TRANCE]",TNF superfamily member 11,gene with protein product,13q14.11,The molecular basis of the disorder is known,Unknown,,602642,ENSG00000120659,ligandId:5066,O14788,O14788,HGNC:11926 +GARD:0004160,Orphanet,2788,ORPHA:2788,1,LRP5,"[BMND1, EVR4, HBM, LR3, OPS, OPTA1, VBCH2]",LDL receptor related protein 5,gene with protein product,11q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:16252235, PMID:16679074, PMID:21407258]",603506,ENSG00000162337,,O75197,O75197,HGNC:6697 +GARD:0004166,Orphanet,1338,ORPHA:1338,1,WDPCP,"[BBS15, CPLANE5, fritz, hFrtz]",WD repeat containing planar cell polarity effector,gene with protein product,2p15,Disease-causing germline mutation(s) in,Assessed,[PMID:25427950],613580,ENSG00000143951,,O95876,,HGNC:28027 +GARD:0004168,Orphanet,2791,ORPHA:2791,1,FGF3,"[HBGF-3, INT-2 proto-oncogene protein, V-INT2 murine mammary tumor virus integration site oncogene homolog, murine mammary tumor virus integration site 2, mouse, oncogene INT2]",fibroblast growth factor 3,gene with protein product,11q13.3,Role in the phenotype of,Assessed,[PMID:17656375],164950,ENSG00000186895,,P11487,P11487,HGNC:3681 +GARD:0004169,Orphanet,2792,ORPHA:2792,2,PAX1,,paired box 1,gene with protein product,20p11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:23851939],167411,ENSG00000125813,,P15863,,HGNC:8615 +GARD:0004169,Orphanet,2792,ORPHA:2792,2,EYA1,,EYA transcriptional coactivator and phosphatase 1,gene with protein product,8q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:16441263],601653,ENSG00000104313,,Q99502,Q99502,HGNC:3519 +GARD:0004183,Orphanet,3203,ORPHA:3203,1,RHAG,"[Ammonium transporter Rh type A, CD241, RH50A, SLC42A1]",Rh associated glycoprotein,gene with protein product,6p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23664421],180297,ENSG00000112077,1198,Q02094,Q02094,HGNC:10006 +GARD:0004203,Orphanet,2805,ORPHA:2805,2,PDX1,"[IDX-1, MODY4, PDX-1, STF-1, somatostatin transcription factor 1]",pancreatic and duodenal homeobox 1,gene with protein product,13q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:8988180],600733,ENSG00000139515,,P52945,P52945,HGNC:6107 +GARD:0004203,Orphanet,2805,ORPHA:2805,2,PTF1A,"[PTF1-p48, bHLHa29, p48]",pancreas associated transcription factor 1a,gene with protein product,10p12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24212882],607194,ENSG00000168267,,Q7RTS3,Q7RTS3,HGNC:23734 +GARD:0004206,Orphanet,1333,ORPHA:1333,9,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Major susceptibility factor in,Assessed,[PMID:25240578],191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0004206,Orphanet,1333,ORPHA:1333,9,SMAD4,[DPC4],SMAD family member 4,gene with protein product,18q21.2,Major susceptibility factor in,Assessed,[PMID:25240578],600993,ENSG00000141646,,Q13485,Q13485,HGNC:6770 +GARD:0004206,Orphanet,1333,ORPHA:1333,9,KRAS,"[K-Ras4B, KRAS1]","KRAS proto-oncogene, GTPase",gene with protein product,12p12.1,Major susceptibility factor in,Assessed,[PMID:25240578],190070,ENSG00000133703,2824,P01116,P01116,HGNC:6407 +GARD:0004206,Orphanet,1333,ORPHA:1333,9,RABL3,[MGC23920],"RAB, member of RAS oncogene family like 3",gene with protein product,3q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:31406347],618542,ENSG00000144840,,Q5HYI8,,HGNC:18072 +GARD:0004206,Orphanet,1333,ORPHA:1333,9,BRCA1,"[BRCA1/BRCA2-containing complex, subunit 1, BRCC1, FANCS, Fanconi anemia, complementation group S, PPP1R53, RNF53, protein phosphatase 1, regulatory subunit 53]",BRCA1 DNA repair associated,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,[PMID:18855126],113705,ENSG00000012048,,P38398,P38398,HGNC:1100 +GARD:0004206,Orphanet,1333,ORPHA:1333,9,PALLD,"[CGI-151, KIAA0992, SIH002]","palladin, cytoskeletal associated protein",gene with protein product,4q32.3,Major susceptibility factor in,Assessed,[PMID:17194196],608092,ENSG00000129116,,Q8WX93,,HGNC:17068 +GARD:0004206,Orphanet,1333,ORPHA:1333,9,CDKN2A,"[ARF, CDK4I, CMM2, INK4, INK4a, MTS1, p14, p14ARF, p16, p16INK4a, p19, p19Arf]",cyclin dependent kinase inhibitor 2A,gene with protein product,9p21.3,Major susceptibility factor in,Assessed,[PMID:25240578],600160,ENSG00000147889,,P42771,P42771,HGNC:1787 +GARD:0004206,Orphanet,1333,ORPHA:1333,9,BRCA2,"[BRCA1/BRCA2-containing complex, subunit 2, BRCC2, FAD, FAD1, XRCC11]",BRCA2 DNA repair associated,gene with protein product,13q13.1,Major susceptibility factor in,Assessed,[PMID:12569143],600185,ENSG00000139618,,P51587,P51587,HGNC:1101 +GARD:0004206,Orphanet,1333,ORPHA:1333,9,PALB2,"[FANCN, FLJ21816, Fanconi anemia, complementation group N]",partner and localizer of BRCA2,gene with protein product,16p12.2,Major susceptibility factor in,Assessed,"[PMID:20412113, PMID:21365267]",610355,ENSG00000083093,,Q86YC2,Q86YC2,HGNC:26144 +GARD:0004213,Orphanet,93276,ORPHA:93276,1,GNAS,"[G protein subunit alpha S, GNASXL, GPSA, NESP, NESP55, SCG6, SgVI, secretogranin VI]",GNAS complex locus,gene with protein product,20q13.32,Disease-causing somatic mutation(s) in,Assessed,"[PMID:10535539, PMID:10646121]",139320,ENSG00000087460,,O95467; P63092; P84996; Q5JWF2,P63092,HGNC:4392 +GARD:0004214,Orphanet,2807,ORPHA:2807,1,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12085209],191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0004219,Orphanet,100998,ORPHA:100998,1,BSCL2,[seipin],"BSCL2 lipid droplet biogenesis associated, seipin",gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:14981520],606158,ENSG00000168000,,Q96G97,,HGNC:15832 +GARD:0004222,Orphanet,2646,ORPHA:2646,1,TRPV4,"[CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2, VROAC, osmosensitive transient receptor potential channel 4]",transient receptor potential cation channel subfamily V member 4,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20503319, PMID:24830047]",605427,ENSG00000111199,510,Q9HBA0,Q9HBA0,HGNC:18083 +GARD:0004224,Orphanet,851,ORPHA:851,1,FLI1,"[EWSR2, SIC-1]","Fli-1 proto-oncogene, ETS transcription factor",gene with protein product,11q24.3,Role in the phenotype of,Assessed,"[PMID:22775407, PMID:7703487]",193067,ENSG00000151702,,Q01543,Q01543,HGNC:3749 +GARD:0004227,Orphanet,228140,ORPHA:228140,2,DPP6,"[DPL1, DPPX]",dipeptidyl peptidase like 6,gene with protein product,7q36.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:19285295, PMID:21512816]",126141,ENSG00000130226,,P42658,,HGNC:3010 +GARD:0004227,Orphanet,228140,ORPHA:228140,2,SCN5A,"[CDCD2, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, long QT syndrome 3]",sodium voltage-gated channel alpha subunit 5,gene with protein product,3p22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:10940383],600163,ENSG00000183873,582,Q14524,Q14524,HGNC:10593 +GARD:0004228,Orphanet,2901,ORPHA:2901,1,SEPTIN9,"[AF17q25, KIAA0991, MSF1, Ov/Br septin, PNUTL4, SeptD1]",septin 9,gene with protein product,17q25.3,Major susceptibility factor in,Assessed,,604061,ENSG00000184640,,Q9UHD8,,HGNC:7323 +GARD:0004235,Orphanet,94083,ORPHA:94083,1,ARX,"[CT121, EIEE1, ISSX, cancer/testis antigen 121]",aristaless related homeobox,gene with protein product,Xp21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11889467],300382,ENSG00000004848,,Q96QS3,,HGNC:18060 +GARD:0004261,Orphanet,85410,ORPHA:85410,7,STAT4,,signal transducer and activator of transcription 4,gene with protein product,2q32.2-q32.3,Major susceptibility factor in,Assessed,[PMID:23603761],600558,ENSG00000138378,,Q14765,Q14765,HGNC:11365 +GARD:0004261,Orphanet,85410,ORPHA:85410,7,PTPN2,"[TC-PTP, TCELLPTP, TCPTP]",protein tyrosine phosphatase non-receptor type 2,gene with protein product,18p11.21,Major susceptibility factor in,Assessed,[PMID:22294642],176887,ENSG00000175354,,P17706,P17706,HGNC:9650 +GARD:0004261,Orphanet,85410,ORPHA:85410,7,IL2RA,[CD25],interleukin 2 receptor subunit alpha,gene with protein product,10p15.1,Major susceptibility factor in,Assessed,[PMID:22294642],147730,ENSG00000134460,1695,P01589,P01589,HGNC:6008 +GARD:0004261,Orphanet,85410,ORPHA:85410,7,CD247,"[CD3H, CD3Q, T-cell surface glycoprotein CD3 zeta chain]",CD247 molecule,gene with protein product,1q24.2,Major susceptibility factor in,Assessed,[PMID:22294642],186780,ENSG00000198821,3142,P20963,P20963,HGNC:1677 +GARD:0004261,Orphanet,85410,ORPHA:85410,7,PTPN22,"[Lyp, Lyp1, Lyp2]",protein tyrosine phosphatase non-receptor type 22,gene with protein product,1p13.2,Major susceptibility factor in,Assessed,[PMID:23603761],600716,ENSG00000134242,3084,Q9Y2R2,Q9Y2R2,HGNC:9652 +GARD:0004261,Orphanet,85410,ORPHA:85410,7,IL2RB,[CD122],interleukin 2 receptor subunit beta,gene with protein product,22q12.3,Major susceptibility factor in,Not yet assessed,[PMID:23603761],146710,ENSG00000100385,1696,P14784,P14784,HGNC:6009 +GARD:0004261,Orphanet,85410,ORPHA:85410,7,ANKRD55,[FLJ11795],ankyrin repeat domain 55,gene with protein product,5q11.2,Major susceptibility factor in,Not yet assessed,[PMID:23603761],615189,ENSG00000164512,,Q3KP44,Q3KP44,HGNC:25681 +GARD:0004264,Orphanet,2836,ORPHA:2836,2,ZNHIT3,[Hit1],zinc finger HIT-type containing 3,gene with protein product,17q12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28335020],604500,ENSG00000273611,,Q15649,,HGNC:12309 +GARD:0004264,Orphanet,2836,ORPHA:2836,2,KIF1A,[UNC104],kinesin family member 1A,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26486474],601255,ENSG00000130294,,Q12756,Q12756,HGNC:888 +GARD:0004266,Orphanet,280293,ORPHA:280293,1,AIMP1,"[ARS-interacting multifunctional protein 1, EMAP II, EMAP-2, EMAPII, p43]",aminoacyl tRNA synthetase complex interacting multifunctional protein 1,gene with protein product,4q24,Disease-causing germline mutation(s) in,Assessed,[PMID:21092922],603605,ENSG00000164022,,Q12904,Q12904,HGNC:10648 +GARD:0004271,Orphanet,705,ORPHA:705,3,SLC26A4,"[PDS, pendrin]",solute carrier family 26 member 4,gene with protein product,7q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301640],605646,ENSG00000091137,1100,O43511,O43511,HGNC:8818 +GARD:0004271,Orphanet,705,ORPHA:705,3,FOXI1,[FREAC6],forkhead box I1,gene with protein product,5q35.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301640],601093,ENSG00000168269,,Q12951,,HGNC:3815 +GARD:0004271,Orphanet,705,ORPHA:705,3,KCNJ10,"[Kir1.2, Kir4.1]",potassium inwardly rectifying channel subfamily J member 10,gene with protein product,1q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301640],602208,ENSG00000177807,438,P78508,P78508,HGNC:6256 +GARD:0004276,Orphanet,363665,ORPHA:363665,1,PDGFRB,"[CD140b, JTK12, PDGFR1]",platelet derived growth factor receptor beta,gene with protein product,5q32,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26279204],173410,ENSG00000113721,1804,P09619,P09619,HGNC:8804 +GARD:0004278,Orphanet+OMIM,261680,OMIM:261680,1,PCK1,[PEPCK-C],phosphoenolpyruvate carboxykinase 1,gene with protein product,20q13.31,The molecular basis of the disorder is known,Unknown,,614168,ENSG00000124253,,P35558,P35558,HGNC:8724 +GARD:0004279,Orphanet+OMIM,261650,OMIM:261650,1,PCK2,"[PEPCK, PEPCK2]","phosphoenolpyruvate carboxykinase 2, mitochondrial",gene with protein product,14q11.2-q12,The disorder was positioned by mapping of the wildtype gene,Unknown,,614095,ENSG00000100889,,Q16822,Q16822,HGNC:8725 +GARD:0004291,Orphanet+OMIM,610422,OMIM:610422,1,APMR2,,Alopecia-intellectual disability syndrome 2,unknown,3q26.2-q26.31,The disease phenotype itself was mapped,Unknown,,610422,,,,,GeneID:100049544 +GARD:0004311,Orphanet,2874,ORPHA:2874,1,HRAS,,"HRas proto-oncogene, GTPase",gene with protein product,11p15.5,Disease-causing somatic mutation(s) in,Assessed,[PMID:23337891],190020,ENSG00000174775,2822,P01112,P01112,HGNC:5173 +GARD:0004319,Orphanet,226,ORPHA:226,1,QDPR,"[6,7-dihydropteridine reductase, DHPR, PKU2, SDR33C1, short chain dehydrogenase/reductase family 33C, member 1]",quinoid dihydropteridine reductase,gene with protein product,4p15.32,Disease-causing germline mutation(s) in,Assessed,[PMID:9744478],612676,ENSG00000151552,,P09417,P09417,HGNC:9752 +GARD:0004329,Orphanet,319646,ORPHA:319646,1,PGM1,,phosphoglucomutase 1,gene with protein product,1p31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19625727, PMID:22492991, PMID:24499211]",171900,ENSG00000079739,,P36871,P36871,HGNC:8905 +GARD:0004331,Orphanet,443811,ORPHA:443811,1,PGM3,"[AGM1, DKFZP434B187, PAGM, acetylglucosamine phosphomutase, phosphoacetylglucosamine mutase]",phosphoglucomutase 3,gene with protein product,6q14.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:24589341, PMID:24931394]",172100,ENSG00000013375,,O95394,O95394,HGNC:8907 +GARD:0004344,Orphanet,2884,ORPHA:2884,2,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22670867, PMID:25199540]",164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0004344,Orphanet,2884,ORPHA:2884,2,SNAI2,"[SLUGH, SLUGH1, SNAIL2]",snail family transcriptional repressor 2,gene with protein product,8q11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:12955764, PMID:24443330]",602150,ENSG00000019549,,O43623,O43623,HGNC:11094 +GARD:0004347,Orphanet,718,ORPHA:718,1,SOX9,[SRA1],SRY-box transcription factor 9,gene with protein product,17q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19234473, PMID:24934569]",608160,ENSG00000125398,,P48436,P48436,HGNC:11204 +GARD:0004357,Orphanet,67042,ORPHA:67042,1,C1QTNF5,"[CTRP5, DKFZp586B0621, LORD, complement-c1q tumor necrosis factor-related protein 5, myonectin]",C1q and TNF related 5,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12944416],608752,ENSG00000223953,,Q9BXJ0,,HGNC:14344 +GARD:0004358,Orphanet,169095,ORPHA:169095,1,FOXN1,[FKHL20],forkhead box N1,gene with protein product,17q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:10206641],600838,ENSG00000109101,2958,O15353,O15353,HGNC:12765 +GARD:0004372,Orphanet,2896,ORPHA:2896,1,TCF4,"[E2-2, ITF2, SEF2-1B, SL3-3 enhancer factor 2, bHLHb19, class B basic helix-loop-helix protein 19, immunoglobulin transcription factor 2]",transcription factor 4,gene with protein product,18q21.2,Role in the phenotype of,Assessed,[PMID:30450687],602272,ENSG00000196628,,P15884,P15884,HGNC:11634 +GARD:0004372,Orphanet,2896,ORPHA:2896,1,TCF4,"[E2-2, ITF2, SEF2-1B, SL3-3 enhancer factor 2, bHLHb19, class B basic helix-loop-helix protein 19, immunoglobulin transcription factor 2]",transcription factor 4,gene with protein product,18q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22934316],602272,ENSG00000196628,,P15884,P15884,HGNC:11634 +GARD:0004380,Orphanet,722,ORPHA:722,1,PLG,,plasminogen,gene with protein product,6q26,Disease-causing germline mutation(s) in,Assessed,[PMID:16849641],173350,ENSG00000122194,2394,P00747,P00747,HGNC:9071 +GARD:0004381,Orphanet,465,ORPHA:465,1,SERPINE1,"[PAI, plasminogen activator inhibitor, type I]",serpin family E member 1,gene with protein product,7q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:9207454],173360,ENSG00000106366,,P05121,P05121,HGNC:8583 +GARD:0004382,Orphanet,85166,ORPHA:85166,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:15643621],120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0004391,Orphanet,2908,ORPHA:2908,1,FERMT1,"[FLJ20116, KIND1, UNC112A, URP1, kinderlin, kindlin-1]",FERM domain containing kindlin 1,gene with protein product,20p12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22466645],607900,ENSG00000101311,,Q9BQL6,,HGNC:15889 +GARD:0004412,Orphanet,2754,ORPHA:2754,9,KIAA0753,"[MNR, OFD1 and FOPNL interacting protein, OFIP, moonraker]",KIAA0753,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26643951],617112,ENSG00000198920,,Q2KHM9,Q2KHM9,HGNC:29110 +GARD:0004412,Orphanet,2754,ORPHA:2754,9,CPLANE1,"[FLJ13231, Hug, JBTS17]",ciliogenesis and planar polarity effector complex subunit 1,gene with protein product,5p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24178751],614571,ENSG00000197603,,Q9H799,,HGNC:25801 +GARD:0004412,Orphanet,2754,ORPHA:2754,9,OFD1,"[71-7A, JBTS10, Joubert syndrome type 10]",OFD1 centriole and centriolar satellite protein,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301500],300170,ENSG00000046651,,O75665,O75665,HGNC:2567 +GARD:0004412,Orphanet,2754,ORPHA:2754,9,TMEM216,"[HSPC244, JBTS2, MGC13379]",transmembrane protein 216,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301500, PMID:20615230]",613277,ENSG00000187049,,Q9P0N5,Q9P0N5,HGNC:25018 +GARD:0004412,Orphanet,2754,ORPHA:2754,9,KIF7,[JBTS12],kinesin family member 7,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301500, PMID:21633164]",611254,ENSG00000166813,,Q2M1P5,Q2M1P5,HGNC:30497 +GARD:0004412,Orphanet,2754,ORPHA:2754,9,FAM149B1,,family with sequence similarity 149 member B1,gene with protein product,10q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30905400],618413,ENSG00000138286,,Q96BN6,,HGNC:29162 +GARD:0004412,Orphanet,2754,ORPHA:2754,9,PDE6D,"[JBTS22, retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta]",phosphodiesterase 6D,gene with protein product,2q37.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24166846],602676,ENSG00000156973,1315,O43924,O43924,HGNC:8788 +GARD:0004412,Orphanet,2754,ORPHA:2754,9,TCTN3,"[DKFZP564D116, JBTS18, TECT3]",tectonic family member 3,gene with protein product,10q24.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301500, PMID:22883145]",613847,ENSG00000119977,,Q6NUS6,Q6NUS6,HGNC:24519 +GARD:0004412,Orphanet,2754,ORPHA:2754,9,TOPORS,"[LUN, TP53BPL]","TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase",gene with protein product,9p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:34132027],609507,ENSG00000197579,,Q9NS56,,HGNC:21653 +GARD:0004414,Orphanet+OMIM,174200,OMIM:174200,1,GLI3,"[ACLS, DNA-binding protein, PAP-A, PAPA, PAPA1, PAPB, PPDIV, oncogene GLI3, zinc finger protein GLI3]",GLI family zinc finger 3,gene with protein product,7p14.1,The molecular basis of the disorder is known,Unknown,,165240,ENSG00000106571,,P10071,P10071,HGNC:4319 +GARD:0004417,Orphanet,93339,ORPHA:93339,1,GLI1,,GLI family zinc finger 1,gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30620395],165220,ENSG00000111087,,P08151,P08151,HGNC:4317 +GARD:0004421,Orphanet,3286,ORPHA:3286,7,CALM2,"[CAMII, PHKD, phosphorylase kinase subunit delta, prepro-calmodulin 2]",calmodulin 2,gene with protein product,2p21,Candidate gene tested in,Not yet assessed,[PMID:24917665],114182,ENSG00000143933,,P0DP24,,HGNC:1445 +GARD:0004421,Orphanet,3286,ORPHA:3286,7,TECRL,"[DKFZp313B2333, DKFZp313D0829, GPSN2L, SRD5A2L2, TERL, glycoprotein, synaptic 2-like]","trans-2,3-enoyl-CoA reductase like",gene with protein product,4q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27861123],617242,ENSG00000205678,,Q5HYJ1,Q5HYJ1,HGNC:27365 +GARD:0004421,Orphanet,3286,ORPHA:3286,7,RYR2,"[ARVC2, VTSIP]",ryanodine receptor 2,gene with protein product,1q43,Disease-causing germline mutation(s) in,Assessed,[PMID:20301466],180902,ENSG00000198626,748,Q92736,Q92736,HGNC:10484 +GARD:0004421,Orphanet,3286,ORPHA:3286,7,CASQ2,[PDIB2],calsequestrin 2,gene with protein product,1p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301466],114251,ENSG00000118729,,O14958,O14958,HGNC:1513 +GARD:0004421,Orphanet,3286,ORPHA:3286,7,TRDN,"[TRISK, triadin in skeletal muscle]",triadin,gene with protein product,6q22.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301466, PMID:22422768]",603283,ENSG00000186439,,Q13061,Q13061,HGNC:12261 +GARD:0004421,Orphanet,3286,ORPHA:3286,7,CALM1,"[CAMI, DD132, PHKD, phosphorylase kinase subunit delta, prepro-calmodulin 1]",calmodulin 1,gene with protein product,14q32.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301466, PMID:23040497]",114180,ENSG00000198668,,P0DP23,P62158,HGNC:1442 +GARD:0004421,Orphanet,3286,ORPHA:3286,7,CALM3,"[PHKD, phosphorylase kinase subunit delta, prepro-calmodulin 3]",calmodulin 3,gene with protein product,19q13.32,Candidate gene tested in,Not yet assessed,,114183,ENSG00000160014,,P0DP25,,HGNC:1449 +GARD:0004434,Orphanet,93405,ORPHA:93405,2,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,,600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0004434,Orphanet,93405,ORPHA:93405,2,LMBR1,"[ACHP, FLJ11665, ZRS]",limb development membrane protein 1,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24456159],605522,ENSG00000105983,,Q8WVP7,,HGNC:13243 +GARD:0004436,Orphanet,1234,ORPHA:1234,1,RIPK4,"[ANKK2, DIK, PKC-delta-interacting protein kinase, PKK, Protein kinase C-associated kinase, RIP4, protein kinase C-associated kinase]",receptor interacting serine/threonine kinase 4,gene with protein product,21q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22197488, PMID:22197489]",605706,ENSG00000183421,2192,P57078,P57078,HGNC:496 +GARD:0004438,Orphanet,735,ORPHA:735,2,PMVK,"[HUMPMKI, PMK, PMKA]",phosphomevalonate kinase,gene with protein product,1q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26202976],607622,ENSG00000163344,641,Q15126,Q15126,HGNC:9141 +GARD:0004438,Orphanet,735,ORPHA:735,2,MVK,"[LH receptor mRNA-binding protein, LRBP, MK, mevalonic aciduria]",mevalonate kinase,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,[PMID:26202976],251170,ENSG00000110921,640,Q03426,Q03426,HGNC:7530 +GARD:0004446,Orphanet,79277,ORPHA:79277,2,UROS,[congenital erythropoietic porphyria],uroporphyrinogen III synthase,gene with protein product,10q26.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24027798],606938,ENSG00000188690,,P10746,P10746,HGNC:12592 +GARD:0004446,Orphanet,79277,ORPHA:79277,2,GATA1,"[ERYF1, GATA-1, NF-E1, NFE1, nuclear factor, erythroid 1]",GATA binding protein 1,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,"[PMID:17148589, PMID:24027798]",305371,ENSG00000102145,,P15976,P15976,HGNC:4170 +GARD:0004470,Orphanet,2957,ORPHA:2957,1,HOXA13,,homeobox A13,gene with protein product,7p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:11968094],142959,ENSG00000106031,,P31271,,HGNC:5102 +GARD:0004475,Orphanet,3000,ORPHA:3000,1,LHCGR,"[LCGR, LGR2, LHR, ULG5]",luteinizing hormone/choriogonadotropin receptor,gene with protein product,2p16.3,Disease-causing germline mutation(s) in,Assessed,,152790,ENSG00000138039,254,P22888,P22888,HGNC:6585 +GARD:0004477,Orphanet,749,ORPHA:749,1,KLKB1,[Fletcher factor],kallikrein B1,gene with protein product,4q35.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15461630, PMID:20301226]",229000,ENSG00000164344,2379,P03952,P03952,HGNC:6371 +GARD:0004483,Orphanet,79477,ORPHA:79477,1,RAB27A,"[GS2, HsT18676, RAB27, RAM]","RAB27A, member RAS oncogene family",gene with protein product,15q21.3,Disease-causing germline mutation(s) in,Assessed,,603868,ENSG00000069974,2916,P51159,P51159,HGNC:9766 +GARD:0004484,Orphanet,244,ORPHA:244,47,TTC12,"[FLJ13859, FLJ20535, TPARM]",tetratricopeptide repeat domain 12,gene with protein product,11q23.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31820119],610732,ENSG00000149292,,Q9H892,,HGNC:23700 +GARD:0004484,Orphanet,244,ORPHA:244,47,CCDC103,"[CILD17, FLJ13094, FLJ34211, PR46b]",coiled-coil domain containing 103,gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301301, PMID:22581229]",614677,ENSG00000167131,,Q8IW40,Q8IW40,HGNC:32700 +GARD:0004484,Orphanet,244,ORPHA:244,47,GAS2L2,[GAR17],growth arrest specific 2 like 2,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:30649222],611398,ENSG00000270765,,Q8NHY3,Q8NHY3,HGNC:24846 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAAF5,"[CILD18, FLJ20397, FLJ25564, FLJ31671, FLJ39381]",dynein axonemal assembly factor 5,gene with protein product,7p22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301301, PMID:23040496]",614864,ENSG00000164818,,Q86Y56,,HGNC:26013 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAAF6,"[DNAAF6, MGC35261, NYSAR97, TWISTER, dynein axonemal assembly factor 6, sarcoma antigen NY-SAR-97]",PIH1 domain containing 3,gene with protein product,Xq22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28041644],300933,ENSG00000080572,,Q9NQM4,Q9NQM4,HGNC:28570 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAH9,"[DNAL1, DYH9, Dnahc9, HL-20, HL20, KIAA0357]",dynein axonemal heavy chain 9,gene with protein product,17p12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:30471717, PMID:30471718]",603330,ENSG00000007174,,Q9NYC9,,HGNC:2953 +GARD:0004484,Orphanet,244,ORPHA:244,47,ODAD3,"[MGC20983, ODA10]",outer dynein arm docking complex subunit 3,gene with protein product,19p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25192045],615956,ENSG00000198003,,A5D8V7,A5D8V7,HGNC:28303 +GARD:0004484,Orphanet,244,ORPHA:244,47,RSPH9,"[CILD12, FLJ30845]",radial spoke head component 9,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301301],612648,ENSG00000172426,,Q9H1X1,,HGNC:21057 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAL1,"[1700010H15RiK, CILD16, MGC12435]",dynein axonemal light chain 1,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301301],610062,ENSG00000119661,,Q4LDG9,,HGNC:23247 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAAF2,"[CILD10, FLJ10563, KTU, PF13, kintoun]",dynein axonemal assembly factor 2,gene with protein product,14q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301301],612517,ENSG00000165506,,Q9NVR5,Q9NVR5,HGNC:20188 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAAF1,"[CILD13, DAU1, FLJ25330, ODA7, outer row dynein assembly 7 homolog (Chlamydomonas), swt]",dynein axonemal assembly factor 1,gene with protein product,16q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301301],613190,ENSG00000154099,,Q8NEP3,Q8NEP3,HGNC:30539 +GARD:0004484,Orphanet,244,ORPHA:244,47,CCDC39,"[CFAP59, CILD14, DKFZp434A128, FAP59]",coiled-coil domain containing 39,gene with protein product,3q26.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20301301],613798,ENSG00000284862,,Q9UFE4,,HGNC:25244 +GARD:0004484,Orphanet,244,ORPHA:244,47,RSPH1,"[CILD24, FLJ32753, Meichroacidin, RSP44, RSPH10A, meichroacidin]",radial spoke head component 1,gene with protein product,21q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23993197],609314,ENSG00000160188,,Q8WYR4,,HGNC:12371 +GARD:0004484,Orphanet,244,ORPHA:244,47,MCIDAS,"[IDAS, MCI, multicilin]",multiciliate differentiation and DNA synthesis associated cell cycle protein,gene with protein product,5q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25048963],614086,ENSG00000234602,,D6RGH6,D6RGH6,HGNC:40050 +GARD:0004484,Orphanet,244,ORPHA:244,47,GAS8,[DRC4],growth arrest specific 8,gene with protein product,16q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26387594],605178,ENSG00000141013,,O95995,O95995,HGNC:4166 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAAF11,"[CILD19, LRTP, Leucine rich testes protein, TSLRP, leucine rich testes protein, seahorse, tilB]",dynein axonemal assembly factor 11,gene with protein product,8q24.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301301, PMID:23122589]",614930,ENSG00000129295,,Q86X45,,HGNC:16725 +GARD:0004484,Orphanet,244,ORPHA:244,47,NEK10,[FLJ32685],NIMA related kinase 10,gene with protein product,3p24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:31959991],618726,ENSG00000163491,2115,Q6ZWH5,,HGNC:18592 +GARD:0004484,Orphanet,244,ORPHA:244,47,CCNO,"[FLJ22422, UDG2, UNG2]",cyclin O,gene with protein product,5q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:24747639, PMID:24824133]",607752,ENSG00000152669,,P22674,P22674,HGNC:18576 +GARD:0004484,Orphanet,244,ORPHA:244,47,SPAG1,"[CILD28, CT140, DNAAF13, FLJ32920, HSD-3.8, SP75, TPIS]",sperm associated antigen 1,gene with protein product,8q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24055112],603395,ENSG00000104450,,Q07617,,HGNC:11212 +GARD:0004484,Orphanet,244,ORPHA:244,47,CFAP221,"[FAP221, PCDP1, flagellar associated protein 221 homolog (Chlamydomonas), primary ciliary dyskinesia 1 homolog (mouse)]",cilia and flagella associated protein 221,gene with protein product,2q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31636325],618704,ENSG00000163075,,Q4G0U5,,HGNC:33720 +GARD:0004484,Orphanet,244,ORPHA:244,47,ODAD2,"[CILD23, DKFZP434P1735, FLJ10376, FLJ10817, gudu]",outer dynein arm docking complex subunit 2,gene with protein product,10p12.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23849778],615408,ENSG00000169126,,Q5T2S8,,HGNC:25583 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAI1,"[CILD1, DIC1, PCD]",dynein axonemal intermediate chain 1,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301301],604366,ENSG00000122735,,Q9UI46,,HGNC:2954 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAH5,"[CILD3, Dnahc5, HL1, KTGNR, PCD, dynein heavy chain 5]",dynein axonemal heavy chain 5,gene with protein product,5p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301301],603335,ENSG00000039139,,Q8TE73,,HGNC:2950 +GARD:0004484,Orphanet,244,ORPHA:244,47,CCDC40,"[CFAP172, CILD15, FAP172, FLJ20753, FLJ32021, KIAA1640]",coiled-coil domain containing 40,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301301],613799,ENSG00000141519,,Q4G0X9,Q4G0X9,HGNC:26090 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAJB13,"[RSPH16A, TSARG6, radial spoke 16 homolog A (Chlamydomonas)]",DnaJ heat shock protein family (Hsp40) member B13,gene with protein product,11q13.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27486783],610263,ENSG00000187726,,P59910,P59910,HGNC:30718 +GARD:0004484,Orphanet,244,ORPHA:244,47,LRRC56,"[DKFZp761L1518, DNAAF12, FLJ00101]",leucine rich repeat containing 56,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:30388400],618227,ENSG00000161328,,Q8IYG6,,HGNC:25430 +GARD:0004484,Orphanet,244,ORPHA:244,47,HYDIN,"['protein phosphatase 1, regulatory subunit 31', CILD5, DKFZp434D0513, KIAA1864, PPP1R31, Protein phosphatase 1, regulatory subunit 31]",HYDIN axonemal central pair apparatus protein,gene with protein product,16q22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301301, PMID:23022101]",610812,ENSG00000157423,,Q4G0P3,,HGNC:19368 +GARD:0004484,Orphanet,244,ORPHA:244,47,CFAP298,"[CILD26, FBB18, FLJ20467, Kur, kurly homolog (zebrafish)]",cilia and flagella associated protein 298,gene with protein product,21q22.11,Disease-causing germline mutation(s) in,Assessed,[PMID:24094744],615494,ENSG00000159079,,P57076,,HGNC:1301 +GARD:0004484,Orphanet,244,ORPHA:244,47,SPEF2,"[CT122, FLJ23577, KPL2, cancer/testis antigen 122]",sperm flagellar 2,gene with protein product,5p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31545650],610172,ENSG00000152582,,Q9C093,,HGNC:26293 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAAF4,"[CILD25, EKN1, FLJ37882, dynein, axonemal, assembly factor 4]",dynein axonemal assembly factor 4,gene with protein product,15q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23872636],608706,ENSG00000256061,,Q8WXU2,Q8WXU2,HGNC:21493 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAAF3,"[FLJ36139, FLJ40069, PCD, PF22]",dynein axonemal assembly factor 3,gene with protein product,19q13.42,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301301, PMID:22387996]",614566,ENSG00000167646,,Q8N9W5,,HGNC:30492 +GARD:0004484,Orphanet,244,ORPHA:244,47,FOXJ1,"[HFH-4, HFH4]",forkhead box J1,gene with protein product,17q25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31630787],602291,ENSG00000129654,,Q92949,Q92949,HGNC:3816 +GARD:0004484,Orphanet,244,ORPHA:244,47,NME8,"[CILD6, DNAI8, NM23-H8, SPTRX2, Sperm-specific thioredoxin 2, sperm-specific thioredoxin 2]",NME/NM23 family member 8,gene with protein product,7p14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301301],607421,ENSG00000086288,,Q8N427,,HGNC:16473 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAI2,"[CILD9, DIC2, dynein intermediate chain 2]",dynein axonemal intermediate chain 2,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301301],605483,ENSG00000171595,,Q9GZS0,,HGNC:18744 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAH11,"[CILD7, DNAHBL, DNAHC11, DNHBL, DPL11, Dnahc11, dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like]",dynein axonemal heavy chain 11,gene with protein product,7p15.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301301],603339,ENSG00000105877,,Q96DT5,,HGNC:2942 +GARD:0004484,Orphanet,244,ORPHA:244,47,DRC1,"[CILD21, FLJ32660, MGC16372]",dynein regulatory complex subunit 1,gene with protein product,2p23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23354437],615288,ENSG00000157856,,Q96MC2,,HGNC:24245 +GARD:0004484,Orphanet,244,ORPHA:244,47,RPGR,[CORDX1],retinitis pigmentosa GTPase regulator,gene with protein product,Xp11.4,Disease-causing germline mutation(s) in,Assessed,,312610,ENSG00000156313,,Q92834,Q92834,HGNC:10295 +GARD:0004484,Orphanet,244,ORPHA:244,47,OFD1,"[71-7A, JBTS10, Joubert syndrome type 10]",OFD1 centriole and centriolar satellite protein,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,,300170,ENSG00000046651,,O75665,O75665,HGNC:2567 +GARD:0004484,Orphanet,244,ORPHA:244,47,STK36,"[FU, KIAA1278, fused homolog (Drosophila)]",serine/threonine kinase 36,gene with protein product,2q35,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28543983],607652,ENSG00000163482,2223,Q9NRP7,Q9NRP7,HGNC:17209 +GARD:0004484,Orphanet,244,ORPHA:244,47,DNAH1,"[DNAHC1, HDHC7, HL-11, HL11, XLHSRF-1]",dynein axonemal heavy chain 1,gene with protein product,3p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25927852],603332,ENSG00000114841,,Q9P2D7,,HGNC:2940 +GARD:0004484,Orphanet,244,ORPHA:244,47,ZMYND10,"[BLU, CILD22, DNAAF7, dynein axonemal assembly factor 7]",zinc finger MYND-type containing 10,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23891469, PMID:23891471]",607070,ENSG00000004838,,O75800,O75800,HGNC:19412 +GARD:0004484,Orphanet,244,ORPHA:244,47,CCDC65,"[CFAP250, CILD27, DRC2, FAP250, FLJ35732, NYD-SP28]",coiled-coil domain containing 65,gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:24094744],611088,ENSG00000139537,,Q8IXS2,,HGNC:29937 +GARD:0004484,Orphanet,244,ORPHA:244,47,ODAD1,"[CILD20, FLJ32926]",outer dynein arm docking complex subunit 1,gene with protein product,19q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23261302, PMID:23261303]",615038,ENSG00000105479,,Q96M63,Q96M63,HGNC:26560 +GARD:0004484,Orphanet,244,ORPHA:244,47,CFAP300,"[FBB5, MGC13040]",cilia and flagella associated protein 300,gene with protein product,11q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:29727692, PMID:29727693]",618058,ENSG00000137691,,Q9BRQ4,,HGNC:28188 +GARD:0004484,Orphanet,244,ORPHA:244,47,RSPH3,"[RSP3, dJ111C20.1]",radial spoke head 3,gene with protein product,6q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26073779],615876,ENSG00000130363,,Q86UC2,Q86UC2,HGNC:21054 +GARD:0004484,Orphanet,244,ORPHA:244,47,RSPH4A,"[CILD11, FLJ37974, RSPH6B, dJ412I7.1]",radial spoke head component 4A,gene with protein product,6q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301301],612647,ENSG00000111834,,Q5TD94,,HGNC:21558 +GARD:0004484,Orphanet,244,ORPHA:244,47,ODAD4,[DKFZP434H0115],outer dynein arm docking complex subunit 4,gene with protein product,17q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27486780],617095,ENSG00000204815,,Q96NG3,Q96NG3,HGNC:25280 +GARD:0004485,Orphanet,247604,ORPHA:247604,2,ERLIN2,"[Erlin-2, NET32]",ER lipid raft associated 2,gene with protein product,8p11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23109145],611605,ENSG00000147475,,O94905,O94905,HGNC:1356 +GARD:0004485,Orphanet,247604,ORPHA:247604,2,ALS2,"[Alsin, alsin]",alsin Rho guanine nucleotide exchange factor ALS2,gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19122027],606352,ENSG00000003393,,Q96Q42,Q96Q42,HGNC:443 +GARD:0004488,Orphanet,3042,ORPHA:3042,1,ZBTB20,"[DKFZp566F123, DPZF, ODA-8S]",zinc finger and BTB domain containing 20,gene with protein product,3q13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:25017102],606025,ENSG00000181722,,Q9HC78,,HGNC:13503 +GARD:0004497,Orphanet,2963,ORPHA:2963,1,SLC25A24,"[APC1, DKFZp586G0123]",solute carrier family 25 member 24,gene with protein product,1p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29100094],608744,ENSG00000085491,1077,Q6NUK1,,HGNC:20662 +GARD:0004504,Orphanet+OMIM,304400,OMIM:304400,1,POU3F4,"[BRN4, DFNX2, OTF9, Octamer-binding transcription factor 9, brain-4]",POU class 3 homeobox 4,gene with protein product,Xq21.1,The molecular basis of the disorder is known,Unknown,,300039,ENSG00000196767,,P49335,,HGNC:9217 +GARD:0004508,Orphanet,2965,ORPHA:2965,3,MEN1,[menin],menin 1,gene with protein product,11q13,Major susceptibility factor in,Assessed,[PMID:23321498],613733,ENSG00000133895,,O00255,O00255,HGNC:7010 +GARD:0004508,Orphanet,2965,ORPHA:2965,3,AIP,"[ARA9, Ah receptor activated 9, FK506-binding protein 37, FKBP prolyl isomerase 16, FKBP16, FKBP37, X-associated protein-2, XAP2, aryl hydrocarbon receptor-associated protein 9, hepatitis B virus X-associated cellular protein 2]",aryl hydrocarbon receptor interacting protein,gene with protein product,11q13.2,Major susceptibility factor in,Assessed,"[PMID:22319033, PMID:23321498]",605555,ENSG00000110711,,O00170,O00170,HGNC:358 +GARD:0004508,Orphanet,2965,ORPHA:2965,3,CDH23,"[CDHR23, cadherin-related family member 23]",cadherin related 23,gene with protein product,10q22.1,Major susceptibility factor in,Assessed,[PMID:28413019],605516,ENSG00000107736,,Q9H251,,HGNC:13733 +GARD:0004513,Orphanet,2966,ORPHA:2966,1,CFP,,complement factor properdin,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:8871668],300383,ENSG00000126759,,P27918,P27918,HGNC:8864 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,MSMB,"[IGBF, MSP, MSPB, PN44, PRPS, PSP, PSP-94, PSP57, PSP94, beta-microseminoprotein]",microseminoprotein beta,gene with protein product,10q11.22,Major susceptibility factor in,Assessed,"[PMID:18264097, PMID:19383797, PMID:19997100]",157145,ENSG00000263639,,P08118,,HGNC:7372 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,ATM,"[TEL1, TEL1, telomere maintenance 1, homolog (S. cerevisiae), TELO1]",ATM serine/threonine kinase,gene with protein product,11q22.3,Major susceptibility factor in,Assessed,[PMID:27989354],607585,ENSG00000149311,1934,Q13315,Q13315,HGNC:795 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,CHEK2,"[CDS1, CHK2, HuCds1, PP1425, bA444G7]",checkpoint kinase 2,gene with protein product,22q12.1,Major susceptibility factor in,Assessed,[PMID:12533788],604373,ENSG00000183765,1988,O96017,O96017,HGNC:16627 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,RAD51D,"[DNA repair protein RAD51 homolog 4, HsTRAD, R51H3, Recombination repair protein, Trad, recombination repair protein]",RAD51 paralog D,gene with protein product,17q12,Biomarker tested in,Assessed,,602954,ENSG00000185379,,O75771,O75771,HGNC:9823 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,MSR1,"[CD204, SCARA1, SR-A, SR-AI, SR-AII, SR-AIII]",macrophage scavenger receptor 1,gene with protein product,8p22,Major susceptibility factor in,Assessed,"[PMID:12244320, PMID:23141781]",153622,ENSG00000038945,,P21757,P21757,HGNC:7376 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,HNF1B,"[HNF1beta, HNF1ß, LFB3, MODY5, VHNF1, hepatocyte nuclear factor 1 beta]",HNF1 homeobox B,gene with protein product,17q12,Major susceptibility factor in,Assessed,[PMID:18701471],189907,ENSG00000275410,,P35680,P35680,HGNC:11630 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,CDH1,"[CD324, E-Cadherin, uvomorulin]",cadherin 1,gene with protein product,16q22.1,Major susceptibility factor in,Assessed,[PMID:14961571],192090,ENSG00000039068,,P12830,P12830,HGNC:1748 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,EPHB2,"[Hek5, Tyro5]",EPH receptor B2,gene with protein product,1p36.12,Major susceptibility factor in,Assessed,[PMID:16155194],600997,ENSG00000133216,1831,P29323,P29323,HGNC:3393 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,NBN,"[AT-V1, AT-V2, ATV]",nibrin,gene with protein product,8q21.3,Major susceptibility factor in,Assessed,"[PMID:14973119, PMID:22864661]",602667,ENSG00000104320,,O60934,O60934,HGNC:7652 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,HOXB13,,homeobox B13,gene with protein product,17q21.32,Major susceptibility factor in,Assessed,[PMID:22236224],604607,ENSG00000159184,,Q92826,,HGNC:5112 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,BRCA1,"[BRCA1/BRCA2-containing complex, subunit 1, BRCC1, FANCS, Fanconi anemia, complementation group S, PPP1R53, RNF53, protein phosphatase 1, regulatory subunit 53]",BRCA1 DNA repair associated,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,"[PMID:12237281, PMID:22974436]",113705,ENSG00000012048,,P38398,P38398,HGNC:1100 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,ELAC2,"[FLJ10530, HPC2, tRNase Z (long form)]",elaC ribonuclease Z 2,gene with protein product,17p12,Major susceptibility factor in,Assessed,[PMID:23141781],605367,ENSG00000006744,,Q9BQ52,Q9BQ52,HGNC:14198 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,SRD5A2,[3-oxo-5-alpha-steroid 4-dehydrogenase 2],steroid 5 alpha-reductase 2,gene with protein product,2p23.1,Candidate gene tested in,Not yet assessed,,607306,ENSG00000277893,2633,P31213,P31213,HGNC:11285 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,RNASEL,,ribonuclease L,gene with protein product,1q25.3,Major susceptibility factor in,Assessed,[PMID:23141781],180435,ENSG00000135828,,Q05823,Q05823,HGNC:10050 +GARD:0004520,Orphanet,1331,ORPHA:1331,15,BRCA2,"[BRCA1/BRCA2-containing complex, subunit 2, BRCC2, FAD, FAD1, XRCC11]",BRCA2 DNA repair associated,gene with protein product,13q13.1,Major susceptibility factor in,Assessed,[PMID:17700570],600185,ENSG00000139618,,P51587,P51587,HGNC:1101 +GARD:0004527,Orphanet,79278,ORPHA:79278,1,FECH,[protoporphyria],ferrochelatase,gene with protein product,18q21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23016163],612386,ENSG00000066926,,P22830,P22830,HGNC:3647 +GARD:0004528,Orphanet,2508,ORPHA:2508,1,ARX,"[CT121, EIEE1, ISSX, cancer/testis antigen 121]",aristaless related homeobox,gene with protein product,Xp21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:14722918],300382,ENSG00000004848,,Q96QS3,,HGNC:18060 +GARD:0004539,Orphanet,300,ORPHA:300,2,EHHADH,,enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase,gene with protein product,3q27.2,Disease-causing germline mutation(s) in,Assessed,[PMID:9501266],607037,ENSG00000113790,,Q08426,Q08426,HGNC:3247 +GARD:0004539,Orphanet,300,ORPHA:300,2,HSD17B4,"[17-beta-HSD IV, 17-beta-hydroxysteroid dehydrogenase 4, 17beta-estradiol dehydrogenase type IV, 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase, D-3-hydroxyacyl-CoA dehydratase, D-bifunctional protein, peroxisomal, DBP, MFE-2, SDR8C1, beta-hydroxyacyl dehydrogenase, beta-keto-reductase, peroxisomal multifunctional protein 2, short chain dehydrogenase/reductase family 8C, member 1]",hydroxysteroid 17-beta dehydrogenase 4,gene with protein product,5q23.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:24553428, PMID:25967389, PMID:9915948]",601860,ENSG00000133835,,P51659,P51659,HGNC:5213 +GARD:0004540,Orphanet,750,ORPHA:750,1,COMP,"[MED, THBS5, thrombospondin-5]",cartilage oligomeric matrix protein,gene with protein product,19p13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301660],600310,ENSG00000105664,,P49747,P49747,HGNC:2227 +GARD:0004543,Orphanet,2971,ORPHA:2971,1,ACOX1,"[PALMCOX, palmitoyl-CoA oxidase]",acyl-CoA oxidase 1,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22508517],609751,ENSG00000161533,,Q15067,Q15067,HGNC:119 +GARD:0004552,Orphanet,171876,ORPHA:171876,3,SCNN1B,"[ENaCbeta, Liddle syndrome, amiloride-sensitive sodium channel subunit beta]",sodium channel epithelial 1 subunit beta,gene with protein product,16p12.2-p12.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19571553, PMID:23426840]",600760,ENSG00000168447,739,P51168,P51168,HGNC:10600 +GARD:0004552,Orphanet,171876,ORPHA:171876,3,SCNN1A,"[ENaCalpha, amiloride-sensitive sodium channel subunit alpha]",sodium channel epithelial 1 subunit alpha,gene with protein product,12p13,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19571553, PMID:23416952, PMID:23762408]",600228,ENSG00000111319,738,P37088,P37088,HGNC:10599 +GARD:0004552,Orphanet,171876,ORPHA:171876,3,SCNN1G,"[ENaCgamma, SCNEG, amiloride-sensitive sodium channel subunit gamma]",sodium channel epithelial 1 subunit gamma,gene with protein product,16p12.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:11231969, PMID:19571553]",600761,ENSG00000166828,741,P51170,P51170,HGNC:10602 +GARD:0004582,Orphanet,264675,ORPHA:264675,2,CSF2RB,"[CD131, IL5RB, beta common cytokine receptor, beta-GM-CSF receptor, betaGMR]",colony stimulating factor 2 receptor subunit beta,gene with protein product,22q12.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21075760, PMID:21205713]",138981,ENSG00000100368,2306,P32927,P32927,HGNC:2436 +GARD:0004582,Orphanet,264675,ORPHA:264675,2,CSF2RA,"[CD116, alpha-GM-CSF receptor, alphaGMR]",colony stimulating factor 2 receptor subunit alpha,gene with protein product,Xp22.32; Yp11.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18955570],306250,ENSG00000198223,1707,P15509,P15509,HGNC:2435 +GARD:0004606,Orphanet,760,ORPHA:760,1,PNP,[PUNP],purine nucleoside phosphorylase,gene with protein product,14q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:11453975],164050,ENSG00000198805,2841,P00491,P00491,HGNC:7892 +GARD:0004611,Orphanet,763,ORPHA:763,1,CTSK,[PKND],cathepsin K,gene with protein product,1q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21569238],601105,ENSG00000143387,2350,P43235,P43235,HGNC:2536 +GARD:0004612,Orphanet,3005,ORPHA:3005,1,SFRP4,"[FRP-4, FRPHE, FRZB-2, frpHE]",secreted frizzled related protein 4,gene with protein product,7p14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27355534],606570,ENSG00000106483,,Q6FHJ7,,HGNC:10778 +GARD:0004620,Orphanet,79243,ORPHA:79243,2,PDHA1,"[pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial]",pyruvate dehydrogenase E1 subunit alpha 1,gene with protein product,Xp22.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:10679936, PMID:15384102, PMID:20002461]",300502,ENSG00000131828,,P08559,P08559,HGNC:8806 +GARD:0004620,Orphanet,79243,ORPHA:79243,2,LONP1,"[LonHS, PIM1, hLON]","lon peptidase 1, mitochondrial",gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30304514],605490,ENSG00000196365,3180,P36776,,HGNC:9479 +GARD:0004628,Orphanet,2712,ORPHA:2712,1,BCOR,"[BCL-6 coreceptor, BCL6 interacting corepressor, FLJ20285, KIAA1575]",BCL6 corepressor,gene with protein product,Xp11.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:15004558, PMID:15770227, PMID:22301464]",300485,ENSG00000183337,,Q6W2J9,Q6W2J9,HGNC:20893 +GARD:0004634,Orphanet,99843,ORPHA:99843,1,SLC35C1,"[FLJ11320, FUCT1]",solute carrier family 35 member C1,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,,605881,ENSG00000181830,1147,Q96A29,Q96A29,HGNC:20197 +GARD:0004637,Orphanet,3021,ORPHA:3021,1,RECQL4,[RecQ4],RecQ like helicase 4,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:12952869, PMID:18716613]",603780,ENSG00000160957,,O94761,,HGNC:9949 +GARD:0004648,Orphanet,772,ORPHA:772,13,PEX3,,peroxisomal biogenesis factor 3,gene with protein product,6q24.2,Disease-causing germline mutation(s) in,Assessed,,603164,ENSG00000034693,,P56589,P56589,HGNC:8858 +GARD:0004648,Orphanet,772,ORPHA:772,13,PEX13,,peroxisomal biogenesis factor 13,gene with protein product,2p15,Disease-causing germline mutation(s) in,Assessed,,601789,ENSG00000162928,,Q92968,Q92968,HGNC:8855 +GARD:0004648,Orphanet,772,ORPHA:772,13,PEX1,,peroxisomal biogenesis factor 1,gene with protein product,7q21.2,Disease-causing germline mutation(s) in,Assessed,,602136,ENSG00000127980,,O43933,,HGNC:8850 +GARD:0004648,Orphanet,772,ORPHA:772,13,PEX6,"[PAF-2, PXAAA1]",peroxisomal biogenesis factor 6,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,,601498,ENSG00000124587,,Q13608,,HGNC:8859 +GARD:0004648,Orphanet,772,ORPHA:772,13,PEX19,"[D1S2223E, HK33, PMP1, PMPI, PXMP1, housekeeping gene, 33kD]",peroxisomal biogenesis factor 19,gene with protein product,1q23.2,Disease-causing germline mutation(s) in,Assessed,,600279,ENSG00000162735,,P40855,P40855,HGNC:9713 +GARD:0004648,Orphanet,772,ORPHA:772,13,PEX11B,,peroxisomal biogenesis factor 11 beta,gene with protein product,1q21.1,Disease-causing germline mutation(s) in,Assessed,,603867,ENSG00000131779,,O96011,O96011,HGNC:8853 +GARD:0004648,Orphanet,772,ORPHA:772,13,PEX10,[RNF69],peroxisomal biogenesis factor 10,gene with protein product,1p36.32,Disease-causing germline mutation(s) in,Assessed,,602859,ENSG00000157911,,O60683,O60683,HGNC:8851 +GARD:0004648,Orphanet,772,ORPHA:772,13,PEX5,"[PTS1R, peroxisomal import receptor 5, peroxisomal targeting signal 1 receptor]",peroxisomal biogenesis factor 5,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,,600414,ENSG00000139197,,P50542,P50542,HGNC:9719 +GARD:0004648,Orphanet,772,ORPHA:772,13,PEX26,[FLJ20695],peroxisomal biogenesis factor 26,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,,608666,ENSG00000215193,,Q7Z412,Q7Z412,HGNC:22965 +GARD:0004648,Orphanet,772,ORPHA:772,13,PEX2,"[PAF-1, PMP35, RNF72, ZWS3, Zellweger syndrome, peroxin 2]",peroxisomal biogenesis factor 2,gene with protein product,8q21.13,Disease-causing germline mutation(s) in,Assessed,,170993,ENSG00000164751,,P28328,P28328,HGNC:9717 +GARD:0004648,Orphanet,772,ORPHA:772,13,PEX16,,peroxisomal biogenesis factor 16,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,,603360,ENSG00000121680,,Q9Y5Y5,Q9Y5Y5,HGNC:8857 +GARD:0004648,Orphanet,772,ORPHA:772,13,PEX14,,peroxisomal biogenesis factor 14,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,,601791,ENSG00000142655,,O75381,O75381,HGNC:8856 +GARD:0004648,Orphanet,772,ORPHA:772,13,PEX12,,peroxisomal biogenesis factor 12,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,,601758,ENSG00000108733,,O00623,O00623,HGNC:8854 +GARD:0004665,Orphanet,3032,ORPHA:3032,1,NPHP3,"[CFAP31, FLJ30691, FLJ36696, KIAA2000, MKS7, Meckel syndrome, type 7, NPH3, SLSN3, cilia and flagella associated protein 31]",nephrocystin 3,gene with protein product,3q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18371931],608002,ENSG00000113971,,Q7Z494,Q7Z494,HGNC:7907 +GARD:0004666,Orphanet,402041,ORPHA:402041,3,ATP6V1B1,"[RTA1B, Renal tubular acidosis with deafness, V-ATPase subunit B1, VATB, Vma2]",ATPase H+ transporting V1 subunit B1,gene with protein product,2p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23729491],192132,ENSG00000116039,811,P15313,P15313,HGNC:853 +GARD:0004666,Orphanet,402041,ORPHA:402041,3,ATP6V0A4,"[RDRTA2, RTADR, Stv1, V-ATPase subunit a4, VPP2, Vph1, a4, vacuolar proton pump subunit 2]",ATPase H+ transporting V0 subunit a4,gene with protein product,7q34,Disease-causing germline mutation(s) in,Assessed,[PMID:23729491],605239,ENSG00000105929,826,Q9HBG4,Q9HBG4,HGNC:866 +GARD:0004666,Orphanet,402041,ORPHA:402041,3,FOXI1,[FREAC6],forkhead box I1,gene with protein product,5q35.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29242249],601093,ENSG00000168269,,Q12951,,HGNC:3815 +GARD:0004667,Orphanet,18,ORPHA:18,1,WDR72,[FLJ38736],WD repeat domain 72,gene with protein product,15q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30028003],613214,ENSG00000166415,,Q3MJ13,,HGNC:26790 +GARD:0004668,Orphanet,93608,ORPHA:93608,1,SLC4A1,"[CD233, FR, Froese blood group, RTA1A, SW, Swann blood group, WR, Wright blood group]",solute carrier family 4 member 1 (Diego blood group),gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,,109270,ENSG00000004939,904,P02730,P02730,HGNC:11027 +GARD:0004690,Orphanet,792,ORPHA:792,1,RS1,[XLRS1],retinoschisin 1,gene with protein product,Xp22.13,Disease-causing germline mutation(s) in,Assessed,,300839,ENSG00000102104,,O15537,,HGNC:10457 +GARD:0004694,Orphanet,3095,ORPHA:3095,5,SMC1A,"[DXS423E, KIAA0178, SB1.8, Smcb]",structural maintenance of chromosomes 1A,gene with protein product,Xp11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:32222533],300040,ENSG00000072501,,Q14683,Q14683,HGNC:11111 +GARD:0004694,Orphanet,3095,ORPHA:3095,5,CDKL5,"[CFAP247, EIEE2]",cyclin dependent kinase like 5,gene with protein product,Xp22.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:22196487, PMID:22787626]",300203,ENSG00000008086,1986,O76039,O76039,HGNC:11411 +GARD:0004694,Orphanet,3095,ORPHA:3095,5,NTNG1,"[KIAA0976, Lmnt1, Netrin-G1, netrin G1f]",netrin G1,gene with protein product,1p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17903671],608818,ENSG00000162631,,Q9Y2I2,Q9Y2I2,HGNC:23319 +GARD:0004694,Orphanet,3095,ORPHA:3095,5,MECP2,,methyl-CpG binding protein 2,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301670],300005,ENSG00000169057,,P51608,P51608,HGNC:6990 +GARD:0004694,Orphanet,3095,ORPHA:3095,5,GABBR2,"[GABABR2, GPRC3B, HG20]",gamma-aminobutyric acid type B receptor subunit 2,gene with protein product,9q22.33,Disease-causing germline mutation(s) in,Assessed,[PMID:28856709],607340,ENSG00000136928,241,O75899,O75899,HGNC:4507 +GARD:0004695,Orphanet,3088,ORPHA:3088,1,TINF2,[TIN2],TERF1 interacting nuclear factor 2,gene with protein product,14q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:18252230, PMID:21477109]",604319,ENSG00000092330,,Q9BSI4,Q9BSI4,HGNC:11824 +GARD:0004697,Orphanet,779,ORPHA:779,1,LBR,"[DHCR14B, TDRD18, tudor domain containing 18]",lamin B receptor,gene with protein product,1q42.12,Candidate gene tested in,Not yet assessed,[PMID:20522425],600024,ENSG00000143815,,Q14739,Q14739,HGNC:6518 +GARD:0004701,Orphanet,99756,ORPHA:99756,5,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:7706467],191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0004701,Orphanet,99756,ORPHA:99756,5,FOXO1,[FKH1],forkhead box O1,gene with protein product,13q14.11,Part of a fusion gene in,Assessed,,136533,ENSG00000150907,,Q12778,Q12778,HGNC:3819 +GARD:0004701,Orphanet,99756,ORPHA:99756,5,NF1,"[Watson disease, neurofibromatosis, von Recklinghausen disease]",neurofibromin 1,gene with protein product,17q11.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:34166060],613113,ENSG00000196712,,P21359,P21359,HGNC:7765 +GARD:0004701,Orphanet,99756,ORPHA:99756,5,PAX7,[Hup1],paired box 7,gene with protein product,1p36.13,Part of a fusion gene in,Assessed,,167410,ENSG00000009709,,P23759,,HGNC:8621 +GARD:0004701,Orphanet,99756,ORPHA:99756,5,PAX3,[HUP2],paired box 3,gene with protein product,2q36.1,Part of a fusion gene in,Assessed,,606597,ENSG00000135903,,P23760,P23760,HGNC:8617 +GARD:0004702,Orphanet,99757,ORPHA:99757,4,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:7706467],191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0004702,Orphanet,99757,ORPHA:99757,4,NF1,"[Watson disease, neurofibromatosis, von Recklinghausen disease]",neurofibromin 1,gene with protein product,17q11.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:34166060],613113,ENSG00000196712,,P21359,P21359,HGNC:7765 +GARD:0004702,Orphanet,99757,ORPHA:99757,4,SLC22A18,"[BWR1A, ITM, TSSC5]",solute carrier family 22 member 18,gene with protein product,11p15.4,Candidate gene tested in,Not yet assessed,[PMID:9520460],602631,ENSG00000110628,1036,Q96BI1,Q96BI1,HGNC:10964 +GARD:0004702,Orphanet,99757,ORPHA:99757,4,DICER1,"[Dicer, HERNA, K12H4.8-LIKE, KIAA0928, dicer 1, double-stranded RNA-specific endoribonuclease]","dicer 1, ribonuclease III",gene with protein product,14q32.13,Disease-causing somatic mutation(s) in,Assessed,[PMID:22180160],606241,ENSG00000100697,,Q9UPY3,Q9UPY3,HGNC:17098 +GARD:0004718,Orphanet,3102,ORPHA:3102,1,EIF4A3,"[EIF4AIII, Fal1, KIAA0111]",eukaryotic translation initiation factor 4A3,gene with protein product,17q25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24360804],608546,ENSG00000141543,,P38919,P38919,HGNC:18683 +GARD:0004723,Orphanet,97244,ORPHA:97244,2,SELENON,"[RSS, SELN]",selenoprotein N,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:11528383, PMID:20301468]",606210,ENSG00000162430,,Q9NZV5,,HGNC:15999 +GARD:0004723,Orphanet,97244,ORPHA:97244,2,ACTA1,"[NEM3, nemaline myopathy type 3]","actin alpha 1, skeletal muscle",gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,[PMID:25182138],102610,ENSG00000143632,,P68133,P68133,HGNC:129 +GARD:0004730,Orphanet+OMIM,180750,OMIM:180750,1,TWIST1,"[BPES2, CRS1, H-twist, SCS, Saethre-Chotzen syndrome, bHLHa38]",twist family bHLH transcription factor 1,gene with protein product,7p21.1,The molecular basis of the disorder is known,Unknown,,601622,ENSG00000122691,,Q15672,Q15672,HGNC:12428 +GARD:0004732,Orphanet,79499,ORPHA:79499,1,ATP6V1B2,"[HO57, V-ATPase subunit B2, VATB, Vma2]",ATPase H+ transporting V1 subunit B2,gene with protein product,8p21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24913193],606939,ENSG00000147416,812,P21281,P21281,HGNC:854 +GARD:0004741,Orphanet,3115,ORPHA:3115,2,PMP22,"[GAS3, HMSNIA, HNPP, Sp110]",peripheral myelin protein 22,gene with protein product,17p12,Disease-causing germline mutation(s) in,Assessed,"[PMID:18592125, PMID:9543325]",601097,ENSG00000109099,,Q01453,Q01453,HGNC:9118 +GARD:0004741,Orphanet,3115,ORPHA:3115,2,MPZ,"[CMT2I, CMT2J, HMSNIB, P0]",myelin protein zero,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:10553995],159440,ENSG00000158887,,P25189,,HGNC:7225 +GARD:0004754,Orphanet,309334,ORPHA:309334,1,SLC17A5,"[AST, ISSD, NSD, SD, SIALIN, SLD]",solute carrier family 17 member 5,gene with protein product,6q13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301643],604322,ENSG00000119899,1006,Q9NRA2,Q9NRA2,HGNC:10933 +GARD:0004768,Orphanet,93921,ORPHA:93921,4,LZTR1,"[BTBD29, LZTR-1]",leucine zipper like transcription regulator 1,gene with protein product,22q11.21,Major susceptibility factor in,Assessed,[PMID:24362817],600574,ENSG00000099949,,Q8N653,,HGNC:6742 +GARD:0004768,Orphanet,93921,ORPHA:93921,4,COQ6,[CGI-10],"coenzyme Q6, monooxygenase",gene with protein product,14q24.3,Major susceptibility factor in,Assessed,[PMID:24763291],614647,ENSG00000119723,,Q9Y2Z9,Q9Y2Z9,HGNC:20233 +GARD:0004768,Orphanet,93921,ORPHA:93921,4,NF2,"[ACN, BANF, Merlin, SCH, bilateral acoustic neurofibromatosis, merlin, merlin-1, moesin-ezrin-radixin like, schwannomin]","NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor",gene with protein product,22q12.2,Candidate gene tested in,Not yet assessed,[PMID:23401320],607379,ENSG00000186575,,P35240,P35240,HGNC:7773 +GARD:0004768,Orphanet,93921,ORPHA:93921,4,SMARCB1,"[BAF47, Ini1, PPP1R144, RDT, SNF5, Sfh1p, Snr1, hSNFS, integrase interactor 1, malignant rhabdoid tumor suppressor, protein phosphatase 1, regulatory subunit 144, sucrose nonfermenting, yeast, homolog-like 1]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1",gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,"[PMID:17357086, PMID:23401320]",601607,ENSG00000099956,,Q12824,Q12824,HGNC:11103 +GARD:0004769,Orphanet,75840,ORPHA:75840,4,COL6A2,,collagen type VI alpha 2 chain,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:18366090, PMID:20301676]",120240,ENSG00000142173,,P12110,P12110,HGNC:2212 +GARD:0004769,Orphanet,75840,ORPHA:75840,4,COL12A1,[collagen type XII proteoglycan],collagen type XII alpha 1 chain,gene with protein product,6q13-q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24334604],120320,ENSG00000111799,,Q99715,Q99715,HGNC:2188 +GARD:0004769,Orphanet,75840,ORPHA:75840,4,COL6A3,,collagen type VI alpha 3 chain,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:18366090, PMID:20301676]",120250,ENSG00000163359,,P12111,P12111,HGNC:2213 +GARD:0004769,Orphanet,75840,ORPHA:75840,4,COL6A1,,collagen type VI alpha 1 chain,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:18366090, PMID:20301676]",120220,ENSG00000142156,,P12109,P12109,HGNC:2211 +GARD:0004771,Orphanet,3152,ORPHA:3152,2,SOST,"[DAND6, VBCH]",sclerostin,gene with protein product,17q21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301406],605740,ENSG00000167941,,Q9BQB4,Q9BQB4,HGNC:13771 +GARD:0004771,Orphanet,3152,ORPHA:3152,2,LRP4,"[CLSS, LRP-4, MEGF7, SOST2]",LDL receptor related protein 4,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21471202],604270,ENSG00000134569,,O75096,O75096,HGNC:6696 +GARD:0004774,Orphanet,832,ORPHA:832,1,OXCT1,"[SCOT, Succinyl-CoA:3-ketoacid-CoA transferase]",3-oxoacid CoA-transferase 1,gene with protein product,5p13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:21296660, PMID:23420214]",601424,ENSG00000083720,,P55809,P55809,HGNC:8527 +GARD:0004775,Orphanet,915,ORPHA:915,1,FGD1,[ZFYVE3],"FYVE, RhoGEF and PH domain containing 1",gene with protein product,Xp11.22,Disease-causing germline mutation(s) in,Assessed,,300546,ENSG00000102302,,P98174,P98174,HGNC:3663 +GARD:0004777,Orphanet,806,ORPHA:806,1,ANO6,[DKFZp313M0720],anoctamin 6,gene with protein product,12q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:21107324, PMID:21511967]",608663,ENSG00000177119,,Q4KMQ2,Q4KMQ2,HGNC:25240 +GARD:0004792,Orphanet,842,ORPHA:842,1,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing somatic mutation(s) in,Assessed,[PMID:14695343],164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0004822,Orphanet,26792,ORPHA:26792,1,ACADS,"[ACAD3, SCAD]",acyl-CoA dehydrogenase short chain,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:21938826],606885,ENSG00000122971,,P16219,P16219,HGNC:90 +GARD:0004832,Orphanet,93268,ORPHA:93268,2,IFT122,"[FAP80, SPG, WDR10p, WDR140]",intraflagellar transport 122,gene with protein product,3q21.3-q22.1,Candidate gene tested in,Not yet assessed,[PMID:28370949],606045,ENSG00000163913,,Q9HBG6,Q9HBG6,HGNC:13556 +GARD:0004832,Orphanet,93268,ORPHA:93268,2,IFT80,"[FAP167, KIAA1374]",intraflagellar transport 80,gene with protein product,3q25.33,Disease-causing germline mutation(s) in,Assessed,[PMID:30767363],611177,ENSG00000068885,,Q9P2H3,Q9P2H3,HGNC:29262 +GARD:0004833,Orphanet,93269,ORPHA:93269,3,TRAF3IP1,"[DKFZP434F124, FAP116, IFT54, MIP-T3, MIPT3, microtubule interacting protein that associates with TRAF3]",TRAF3 interacting protein 1,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29068549],607380,ENSG00000204104,,Q8TDR0,Q8TDR0,HGNC:17861 +GARD:0004833,Orphanet,93269,ORPHA:93269,3,DYNC2H1,"[DHC1b, DHC2, DYH1B, hdhc11]",dynein cytoplasmic 2 heavy chain 1,gene with protein product,11q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21211617, PMID:22499340, PMID:22791528]",603297,ENSG00000187240,,Q8NCM8,Q8NCM8,HGNC:2962 +GARD:0004833,Orphanet,93269,ORPHA:93269,3,NEK1,"[KIAA1901, NY-REN-55]",NIMA related kinase 1,gene with protein product,4q33,Disease-causing germline mutation(s) in,Assessed,"[PMID:21211617, PMID:22499340, PMID:22791528]",604588,ENSG00000137601,2114,Q96PY6,Q96PY6,HGNC:7744 +GARD:0004834,Orphanet,93270,ORPHA:93270,1,DYNC2H1,"[DHC1b, DHC2, DYH1B, hdhc11]",dynein cytoplasmic 2 heavy chain 1,gene with protein product,11q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27925158],603297,ENSG00000187240,,Q8NCM8,Q8NCM8,HGNC:2962 +GARD:0004835,Orphanet,93271,ORPHA:93271,5,DYNC2I2,"[CFAP133, DIC5, FAP133, MGC20486, bA216B9.3]",dynein 2 intermediate chain 2,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,[PMID:24183449],613363,ENSG00000119333,,Q96EX3,Q96EX3,HGNC:28296 +GARD:0004835,Orphanet,93271,ORPHA:93271,5,DYNC2I1,"[CFAP163, DIC6, FAP163, FLJ10300]",dynein 2 intermediate chain 1,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23910462],615462,ENSG00000126870,,Q8WVS4,Q8WVS4,HGNC:21862 +GARD:0004835,Orphanet,93271,ORPHA:93271,5,IFT80,"[FAP167, KIAA1374]",intraflagellar transport 80,gene with protein product,3q25.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:19648123, PMID:22791528]",611177,ENSG00000068885,,Q9P2H3,Q9P2H3,HGNC:29262 +GARD:0004835,Orphanet,93271,ORPHA:93271,5,DYNC2H1,"[DHC1b, DHC2, DYH1B, hdhc11]",dynein cytoplasmic 2 heavy chain 1,gene with protein product,11q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19442771, PMID:22791528]",603297,ENSG00000187240,,Q8NCM8,Q8NCM8,HGNC:2962 +GARD:0004835,Orphanet,93271,ORPHA:93271,5,WDR35,"[FAP118, IFT121, IFTA1, KIAA1336, MGC33196]",WD repeat domain 35,gene with protein product,2p24.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:21473986, PMID:22791528]",613602,ENSG00000118965,,Q9P2L0,Q9P2L0,HGNC:29250 +GARD:0004861,Orphanet,2462,ORPHA:2462,2,SKI,,SKI proto-oncogene,gene with protein product,1p36.33-p36.32,Disease-causing germline mutation(s) in,Assessed,[PMID:23023332],164780,ENSG00000157933,,P12755,P12755,HGNC:10896 +GARD:0004861,Orphanet,2462,ORPHA:2462,2,FBN1,"[MASS, Marfan syndrome, OCTD, SGS, asprosin]",fibrillin 1,gene with protein product,15q21.1,Candidate gene tested in,Not yet assessed,"[PMID:16333834, PMID:20301454, PMID:8563763, PMID:9338588]",134797,ENSG00000166147,,P35555,P35555,HGNC:3603 +GARD:0004863,Orphanet,811,ORPHA:811,4,DNAJC21,"[DNAJA5, GS3, JJJ1, JJJ1 DnaJ domain protein homolog (S. cerevisiae)]",DnaJ heat shock protein family (Hsp40) member C21,gene with protein product,5p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28062395],617048,ENSG00000168724,,Q5F1R6,,HGNC:27030 +GARD:0004863,Orphanet,811,ORPHA:811,4,EFL1,"[FAM42A, FLJ13119, HsT19294, RIA1, ribosome assembly 1 homolog (yeast)]",elongation factor like GTPase 1,gene with protein product,15q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28331068],617538,ENSG00000140598,,Q7Z2Z2,,HGNC:25789 +GARD:0004863,Orphanet,811,ORPHA:811,4,SRP54,,signal recognition particle 54,gene with protein product,14q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28972538],604857,ENSG00000100883,,P61011,P61011,HGNC:11301 +GARD:0004863,Orphanet,811,ORPHA:811,4,SBDS,"[CGI-97, FLJ10917, SDO1, SDS, SWDS]",SBDS ribosome maturation factor,gene with protein product,7q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:20301722],607444,ENSG00000126524,,Q9Y3A5,,HGNC:19440 +GARD:0004865,Orphanet,3166,ORPHA:3166,1,GNE,"[Uae1, bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase]",glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301343],603824,ENSG00000159921,,Q9Y223,Q9Y223,HGNC:23657 +GARD:0004877,Orphanet+OMIM,147250,OMIM:147250,1,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,The molecular basis of the disorder is known,Unknown,,600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0004879,Orphanet+OMIM,140400,OMIM:140400,1,PFHB2,,"Progressive familial heart block, type II",unknown,1q32,The disease phenotype itself was mapped,Unknown,,140400,,,,,GeneID:105463127 +GARD:0004881,Orphanet,247698,ORPHA:247698,1,RET,"[CDHF12, CDHR16, PTC, RET receptor tyrosine kinase, RET51, cadherin-related family member 16, rearranged during transfection]",ret proto-oncogene,gene with protein product,10q11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301434, PMID:20833330]",164761,ENSG00000165731,2185,P07949,P07949,HGNC:9967 +GARD:0004883,Orphanet,101063,ORPHA:101063,9,CFAP52,"[FLJ37528, WD40-repeat protein upregulated in HCC, WDRPUH]",cilia and flagella associated protein 52,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25469542],609804,ENSG00000166596,,Q8N1V2,,HGNC:16053 +GARD:0004883,Orphanet,101063,ORPHA:101063,9,DNAH9,"[DNAL1, DYH9, Dnahc9, HL-20, HL20, KIAA0357]",dynein axonemal heavy chain 9,gene with protein product,17p12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30471718],603330,ENSG00000007174,,Q9NYC9,,HGNC:2953 +GARD:0004883,Orphanet,101063,ORPHA:101063,9,MMP21,,matrix metallopeptidase 21,gene with protein product,10q26.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26429889, PMID:26437028]",608416,ENSG00000154485,1644,Q8N119,,HGNC:14357 +GARD:0004883,Orphanet,101063,ORPHA:101063,9,CITED2,[MRG1],Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2,gene with protein product,6q24.1,Major susceptibility factor in,Not yet assessed,,602937,ENSG00000164442,,Q99967,Q99967,HGNC:1987 +GARD:0004883,Orphanet,101063,ORPHA:101063,9,PKD1L1,"[PRO19563, polycystin-1L1]","polycystin 1 like 1, transient receptor potential channel interacting",gene with protein product,7p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27616478],609721,ENSG00000158683,,Q8TDX9,,HGNC:18053 +GARD:0004883,Orphanet,101063,ORPHA:101063,9,CFAP53,[FLJ32743],cilia and flagella associated protein 53,gene with protein product,18q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22577226],614759,ENSG00000172361,,Q96M91,Q96M91,HGNC:26530 +GARD:0004883,Orphanet,101063,ORPHA:101063,9,NME7,"[CFAP67, FLJ37194, NM23-H7, cilia and flagella associated protein 67]",NME/NM23 family member 7,gene with protein product,1q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27060491],613465,ENSG00000143156,,Q9Y5B8,Q9Y5B8,HGNC:20461 +GARD:0004883,Orphanet,101063,ORPHA:101063,9,ANKS3,"[FLJ32345, FLJ32767, KIAA1977]",ankyrin repeat and sterile alpha motif domain containing 3,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27417436],617310,ENSG00000168096,,Q6ZW76,,HGNC:29422 +GARD:0004883,Orphanet,101063,ORPHA:101063,9,NODAL,,nodal growth differentiation factor,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19064609],601265,ENSG00000156574,,Q96S42,Q96S42,HGNC:7865 +GARD:0004891,Orphanet,83629,ORPHA:83629,1,AIFM1,"[AIF, CMTX4, DFNX5]",apoptosis inducing factor mitochondria associated 1,gene with protein product,Xq26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27102849],300169,ENSG00000156709,,O95831,O95831,HGNC:8768 +GARD:0004910,Orphanet,98,ORPHA:98,1,SACS,"[ARSACS, DKFZp686B15167, DNAJC29, KIAA0730, PPP1R138, SPAX6, protein phosphatase 1, regulatory subunit 138]",sacsin molecular chaperone,gene with protein product,13q12.12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301432],604490,ENSG00000151835,,Q9NZJ4,,HGNC:10519 +GARD:0004914,Orphanet,293168,ORPHA:293168,1,ALS2,"[Alsin, alsin]",alsin Rho guanine nucleotide exchange factor ALS2,gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24315819],606352,ENSG00000003393,,Q96Q42,Q96Q42,HGNC:443 +GARD:0004919,Orphanet,2822,ORPHA:2822,1,SPG11,"[FLJ21439, spatacsin]","SPG11 vesicle trafficking associated, spatacsin",gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17322883, PMID:19105190]",610844,ENSG00000104133,,Q96JI7,,HGNC:11226 +GARD:0004922,Orphanet,209951,ORPHA:209951,1,ERLIN2,"[Erlin-2, NET32]",ER lipid raft associated 2,gene with protein product,8p11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:21330303],611605,ENSG00000147475,,O94905,O94905,HGNC:1356 +GARD:0004923,Orphanet,99015,ORPHA:99015,1,PLP1,"[GPM6C, Pelizaeus-Merzbacher disease]",proteolipid protein 1,gene with protein product,Xq22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301361],300401,ENSG00000123560,,P60201,,HGNC:9086 +GARD:0004924,Orphanet,139480,ORPHA:139480,1,PNPLA6,"[NTE, SPG39, SWS, iPLA2delta, neuropathy target esterase, sws]",patatin like phospholipase domain containing 6,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18313024],603197,ENSG00000032444,,Q8IY17,Q8IY17,HGNC:16268 +GARD:0004925,Orphanet,100985,ORPHA:100985,1,SPAST,"[ADPSP, FSP2, KIAA1083]",spastin,gene with protein product,2p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17895902],604277,ENSG00000021574,,Q9UBP0,,HGNC:11233 +GARD:0004926,Orphanet,100986,ORPHA:100986,1,CYP7B1,,cytochrome P450 family 7 subfamily B member 1,gene with protein product,8q12.3,Disease-causing germline mutation(s) in,Assessed,,603711,ENSG00000172817,1355,O75881,O75881,HGNC:2652 +GARD:0004927,Orphanet,99013,ORPHA:99013,1,SPG7,"[CAR, SPG5C, paraplegin]","SPG7 matrix AAA peptidase subunit, paraplegin",gene with protein product,16q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:17646629, PMID:20301286]",602783,ENSG00000197912,,Q9UQ90,Q9UQ90,HGNC:11237 +GARD:0004928,Orphanet,100988,ORPHA:100988,1,NIPA1,"[MGC35570, SLC57A1]",NIPA magnesium transporter 1,gene with protein product,15q11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:14508710, PMID:15643603]",608145,ENSG00000170113,3033,Q7RTP0,Q7RTP0,HGNC:17043 +GARD:0004936,Orphanet,3449,ORPHA:3449,3,LTBP2,,latent transforming growth factor beta binding protein 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301293, PMID:22539340]",602091,ENSG00000119681,,Q14767,Q14767,HGNC:6715 +GARD:0004936,Orphanet,3449,ORPHA:3449,3,FBN1,"[MASS, Marfan syndrome, OCTD, SGS, asprosin]",fibrillin 1,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301293],134797,ENSG00000166147,,P35555,P35555,HGNC:3603 +GARD:0004936,Orphanet,3449,ORPHA:3449,3,ADAMTS10,[ADAM-TS10],ADAM metallopeptidase with thrombospondin type 1 motif 10,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301293],608990,ENSG00000142303,1683,Q9H324,Q9H324,HGNC:13201 +GARD:0004945,Orphanet,83418,ORPHA:83418,3,SMN2,"[BCD541, GEMIN1, SMNC, TDRD16B, tudor domain containing 16B]","survival of motor neuron 2, centromeric",gene with protein product,5q13.2,Modifying germline mutation in,Assessed,[PMID:20301526],601627,ENSG00000205571,,Q16637,Q16637,HGNC:11118 +GARD:0004945,Orphanet,83418,ORPHA:83418,3,NAIP,"[NLR family, BIR domain containing 1, NLRB1, nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1]",NLR family apoptosis inhibitory protein,gene with protein product,5q13.2,Modifying germline mutation in,Assessed,[PMID:11912351],600355,ENSG00000249437,2793,Q13075,,HGNC:7634 +GARD:0004945,Orphanet,83418,ORPHA:83418,3,SMN1,"[BCD541, GEMIN1, SMA1, SMA2, SMA3, SMNT, TDRD16A, gemin-1, tudor domain containing 16A]","survival of motor neuron 1, telomeric",gene with protein product,5q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301526],600354,ENSG00000172062,,Q16637,Q16637,HGNC:11117 +GARD:0004947,Orphanet+OMIM,616866,OMIM:616866,1,TRIP4,"[ASC-1, Activating Signal Cointegrator-1, C2HC5-type, HsT17391, ZC2HC5, zinc finger]",thyroid hormone receptor interactor 4,gene with protein product,15q22.31,The molecular basis of the disorder is known,Unknown,,604501,ENSG00000103671,,Q15650,,HGNC:12310 +GARD:0004950,Orphanet,211017,ORPHA:211017,1,SCA30,,spinocerebellar ataxia 30,Disorder-associated locus,4q34.3-q35.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18996908],,,,,,HGNC:33445 +GARD:0004952,Orphanet,95434,ORPHA:95434,2,VPS41,,VPS41 subunit of HOPS complex,gene with protein product,7p14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:33764426],605485,ENSG00000006715,,P49754,,HGNC:12713 +GARD:0004952,Orphanet,95434,ORPHA:95434,2,VPS13D,"[FLJ10619, KIAA0453]",vacuolar protein sorting 13 homolog D,gene with protein product,1p36.22-p36.21,Disease-causing germline mutation(s) in,Assessed,[PMID:29604224],608877,ENSG00000048707,,Q5THJ4,,HGNC:23595 +GARD:0004953,Orphanet,98766,ORPHA:98766,1,SPTBN2,,"spectrin beta, non-erythrocytic 2",gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301317],604985,ENSG00000173898,,O15020,O15020,HGNC:11276 +GARD:0004955,Orphanet,94147,ORPHA:94147,1,ATXN7,"[ADCAII, OPCA3, SGF73]",ataxin 7,gene with protein product,3p14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301317],607640,ENSG00000163635,,O15265,O15265,HGNC:10560 +GARD:0004956,Orphanet,98760,ORPHA:98760,2,ATXN8OS,"[NCRNA00003, non-protein coding RNA 3]",ATXN8 opposite strand lncRNA,Non-coding RNA,13q21.33,Disease-causing germline mutation(s) in,Assessed,,603680,ENSG00000230223,,P0DMR3,,HGNC:10561 +GARD:0004956,Orphanet,98760,ORPHA:98760,2,ATXN8,,ataxin 8,gene with protein product,13q21.33,Disease-causing germline mutation(s) in,Assessed,,613289,,,Q156A1,,HGNC:32925 +GARD:0004970,Orphanet,93357,ORPHA:93357,1,TONSL,[IKBR],"tonsoku like, DNA repair protein",gene with protein product,8q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:30773277, PMID:30773278]",604546,ENSG00000160949,,Q96HA7,,HGNC:7801 +GARD:0004973,Orphanet+OMIM,609813,OMIM:609813,1,LFNG,[SCDO3],LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase,gene with protein product,7p22.3,The molecular basis of the disorder is known,Unknown,,602576,ENSG00000106003,,Q8NES3,Q8NES3,HGNC:6560 +GARD:0004974,Orphanet,3275,ORPHA:3275,2,FLNB,"[ABP-278, FH1, TABP, TAP, actin binding protein 278, beta filamin]",filamin B,gene with protein product,3p14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301736],603381,ENSG00000136068,,O75369,O75369,HGNC:3755 +GARD:0004974,Orphanet,3275,ORPHA:3275,2,MYH3,"[HEMHC, MYHC-EMB, MYHSE1, SMHCE, muscle embryonic myosin heavy chain 3, myosin, skeletal, heavy chain, embryonic 1]",myosin heavy chain 3,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27381093],160720,ENSG00000109063,,P11055,P11055,HGNC:7573 +GARD:0004976,Orphanet+OMIM,613686,OMIM:613686,1,HES7,"[bHLH factor Hes7, bHLHb37]",hes family bHLH transcription factor 7,gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,608059,ENSG00000179111,,Q9BYE0,,HGNC:15977 +GARD:0004978,Orphanet,1855,ORPHA:1855,1,ACP5,"[HPAP, TRAP, human purple acid phosphatase, tartrate-resistant acid phosphatase]","acid phosphatase 5, tartrate resistant",gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21217752, PMID:21217755]",171640,ENSG00000102575,,P13686,P13686,HGNC:124 +GARD:0004979,Orphanet,93349,ORPHA:93349,1,BGN,"[DSPG1, SLRR1A, biglycan proteoglycan]",biglycan,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:27236923],301870,ENSG00000182492,,P21810,P21810,HGNC:1044 +GARD:0004980,Orphanet,93352,ORPHA:93352,1,DDRGK1,"[Dashurin, UFBP1, dJ1187M17.3]",DDRGK domain containing 1,gene with protein product,20p13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28263186],616177,ENSG00000198171,,Q96HY6,,HGNC:16110 +GARD:0004982,Orphanet,93359,ORPHA:93359,2,B3GALT6,"[beta-1,3-galactosyltransferase-6, beta3GalT6]","beta-1,3-galactosyltransferase 6",gene with protein product,1p36.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23664117],615291,ENSG00000176022,,Q96L58,Q96L58,HGNC:17978 +GARD:0004982,Orphanet,93359,ORPHA:93359,2,EXOC6B,[KIAA0919],exocyst complex component 6B,gene with protein product,2p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:26669664, PMID:30284759]",607880,ENSG00000144036,,Q9Y2D4,Q9Y2D4,HGNC:17085 +GARD:0004984,Orphanet,1830,ORPHA:1830,1,SMARCAL1,"[ATP-driven annealing helicase, HARP, HHARP, HepA-related protein]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1",gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:20301550],606622,ENSG00000138375,,Q9NZC9,,HGNC:11102 +GARD:0004985,Orphanet+OMIM,313400,OMIM:313400,1,TRAPPC2,"[MIP-2A, SEDT, TRS20, ZNF547L, hYP38334]",trafficking protein particle complex subunit 2,gene with protein product,Xp22.2,The molecular basis of the disorder is known,Unknown,,300202,ENSG00000196459,,P0DI81,P0DI81,HGNC:23068 +GARD:0004987,Orphanet,94068,ORPHA:94068,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:26030151],120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0004991,Orphanet,93315,ORPHA:93315,2,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Candidate gene tested in,Not yet assessed,[PMID:17163530],120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0004991,Orphanet,93315,ORPHA:93315,2,FN1,"[CIG, Cold-insoluble globulin, FINC, GFND2, LETS, MSF, Migration-stimulating factor, cold-insoluble globulin, migration-stimulating factor]",fibronectin 1,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:29100092],135600,ENSG00000115414,,P02751,P02751,HGNC:3778 +GARD:0004993,Orphanet,93317,ORPHA:93317,1,GPX4,"[MCSP, PHGPx, phospholipid hydroperoxidase, selenoprotein GPX4]",glutathione peroxidase 4,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24706940],138322,ENSG00000167468,,P36969,P36969,HGNC:4556 +GARD:0004994,Orphanet,1856,ORPHA:1856,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:15316962, PMID:23545312]",120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0004997,Orphanet,2903,ORPHA:2903,1,FLCN,"[BHD, DENND8B, MGC17998, MGC23445]",folliculin,gene with protein product,17p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15657874, PMID:18505456]",607273,ENSG00000154803,,Q8NFG4,,HGNC:27310 +GARD:0005003,Orphanet,841,ORPHA:841,1,KRT17,,keratin 17,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26165312],148069,ENSG00000128422,,Q04695,Q04695,HGNC:6427 +GARD:0005018,Orphanet,90653,ORPHA:90653,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,,120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0005020,Orphanet,90654,ORPHA:90654,1,COL11A1,"[CO11A1, STL2, collagen XI, alpha-1 polypeptide]",collagen type XI alpha 1 chain,gene with protein product,1p21.1,Disease-causing germline mutation(s) in,Assessed,,120280,ENSG00000060718,,P12107,P12107,HGNC:2186 +GARD:0005021,Orphanet,166100,ORPHA:166100,2,COL11A2,[HKE5],collagen type XI alpha 2 chain,gene with protein product,6p21.32,Disease-causing germline mutation(s) in,Assessed,,120290,ENSG00000204248,,P13942,P13942,HGNC:2187 +GARD:0005021,Orphanet,166100,ORPHA:166100,2,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Candidate gene tested in,Not yet assessed,"[PMID:16189708, PMID:21438135]",120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0005025,Orphanet,2833,ORPHA:2833,1,FBN1,"[MASS, Marfan syndrome, OCTD, SGS, asprosin]",fibrillin 1,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20375004],134797,ENSG00000166147,,P35555,P35555,HGNC:3603 +GARD:0005034,Orphanet,734,ORPHA:734,1,GFI1B,[ZNF163B],growth factor independent 1B transcriptional repressor,gene with protein product,9q34.13,Disease-causing germline mutation(s) in,Assessed,[PMID:28041820],604383,ENSG00000165702,,Q5VTD9,Q5VTD9,HGNC:4238 +GARD:0005041,Orphanet,100984,ORPHA:100984,1,ATL1,"[AD-FSP, FSP1, atlastin]",atlastin GTPase 1,gene with protein product,14q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:11685207],606439,ENSG00000198513,,Q8WXF7,Q8WXF7,HGNC:11231 +GARD:0005045,Orphanet,3206,ORPHA:3206,1,LIFR,[CD118],LIF receptor subunit alpha,gene with protein product,5p13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24618404],151443,ENSG00000113594,1713,P42702,P42702,HGNC:6597 +GARD:0005053,Orphanet,3208,ORPHA:3208,4,SDHB,"[iron-sulfur subunit of complex II, succinate dehydrogenase [ubiquinone] iron-sulfur subunit]",succinate dehydrogenase complex iron sulfur subunit B,gene with protein product,1p36.13,Disease-causing germline mutation(s) in,Assessed,[PMID:22972948],185470,ENSG00000117118,,P21912,P21912,HGNC:10681 +GARD:0005053,Orphanet,3208,ORPHA:3208,4,SDHAF1,"[LYR motif containing 8, LYRM8]",succinate dehydrogenase complex assembly factor 1,gene with protein product,19q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:19465911],612848,ENSG00000205138,,A6NFY7,A6NFY7,HGNC:33867 +GARD:0005053,Orphanet,3208,ORPHA:3208,4,SDHD,"[cybS, small subunit of cytochrome b]",succinate dehydrogenase complex subunit D,gene with protein product,11q23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24367056],602690,ENSG00000204370,,O14521,O14521,HGNC:10683 +GARD:0005053,Orphanet,3208,ORPHA:3208,4,SDHA,"[FP, SDHF, flavoprotein subunit of complex II, succinate dehydrogenase [ubiquinone] flavoprotein subunit]",succinate dehydrogenase complex flavoprotein subunit A,gene with protein product,5p15.33,Disease-causing germline mutation(s) in,Assessed,[PMID:22972948],600857,ENSG00000073578,,P31040,P31040,HGNC:10680 +GARD:0005061,Orphanet,585,ORPHA:585,1,SUMF1,"[FGE, UNQ3037]",sulfatase modifying factor 1,gene with protein product,3p26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17657823],607939,ENSG00000144455,,Q8NBK3,Q8NBK3,HGNC:20376 +GARD:0005062,Orphanet,99731,ORPHA:99731,1,SUOX,,sulfite oxidase,gene with protein product,12q13.2,Disease-causing germline mutation(s) in,Assessed,,606887,ENSG00000139531,,P51687,P51687,HGNC:11460 +GARD:0005068,Orphanet,242,ORPHA:242,10,DMRT1,"[CT154, DM domain expressed in testis 1, DMT1]",doublesex and mab-3 related transcription factor 1,gene with protein product,9p24.3,Role in the phenotype of,Assessed,[PMID:20685758],602424,ENSG00000137090,,Q9Y5R6,,HGNC:2934 +GARD:0005068,Orphanet,242,ORPHA:242,10,NR5A1,"[AD4BP, ELP, FTZ1, SF-1, SF1, hSF-1, steroidogenic factor 1]",nuclear receptor subfamily 5 group A member 1,gene with protein product,9q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301714],184757,ENSG00000136931,632,Q13285,Q13285,HGNC:7983 +GARD:0005068,Orphanet,242,ORPHA:242,10,CBX2,"[M33, MGC10561, Pc class homolog (Drosophila)]",chromobox 2,gene with protein product,17q25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19361780],602770,ENSG00000173894,,Q14781,Q14781,HGNC:1552 +GARD:0005068,Orphanet,242,ORPHA:242,10,SOX9,[SRA1],SRY-box transcription factor 9,gene with protein product,17q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22051515],608160,ENSG00000125398,,P48436,P48436,HGNC:11204 +GARD:0005068,Orphanet,242,ORPHA:242,10,WT1,"[AWT1, NPHS4, WAGR, WIT-2]",WT1 transcription factor,gene with protein product,11p13,Candidate gene tested in,Not yet assessed,"[PMID:21314844, PMID:21384108, PMID:25613702]",607102,ENSG00000184937,,P19544,P19544,HGNC:12796 +GARD:0005068,Orphanet,242,ORPHA:242,10,DHX37,"[Dhr1, KIAA1517, MGC2695, MGC4322]",DEAH-box helicase 37,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:31337883],617362,ENSG00000150990,,Q8IY37,Q8IY37,HGNC:17210 +GARD:0005068,Orphanet,242,ORPHA:242,10,MAP3K1,"[MAPKKK1, MEKK]",mitogen-activated protein kinase kinase kinase 1,gene with protein product,5q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21129722],600982,ENSG00000095015,2069,Q13233,Q13233,HGNC:6848 +GARD:0005068,Orphanet,242,ORPHA:242,10,SRY,"[TDF, testis-determining factor]",sex determining region Y,gene with protein product,Yp11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301714],480000,ENSG00000184895,,Q05066,Q05066,HGNC:11311 +GARD:0005068,Orphanet,242,ORPHA:242,10,DHH,"[HHG-3, MGC35145]",desert hedgehog signaling molecule,gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301714],605423,ENSG00000139549,,O43323,O43323,HGNC:2865 +GARD:0005068,Orphanet,242,ORPHA:242,10,NR0B1,"[AHCH, DAX1]",nuclear receptor subfamily 0 group B member 1,gene with protein product,Xp21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30879272],300473,ENSG00000169297,635,P51843,P51843,HGNC:7960 +GARD:0005084,Orphanet,3258,ORPHA:3258,2,APC,"[DP2, DP2.5, DP3, PPP1R46, protein phosphatase 1, regulatory subunit 46]",APC regulator of WNT signaling pathway,gene with protein product,5q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25676610],611731,ENSG00000134982,,P25054,P25054,HGNC:583 +GARD:0005084,Orphanet,3258,ORPHA:3258,2,LRP4,"[CLSS, LRP-4, MEGF7, SOST2]",LDL receptor related protein 4,gene with protein product,11p11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20381006, PMID:23636941]",604270,ENSG00000134569,,O75096,O75096,HGNC:6696 +GARD:0005088,Orphanet,93404,ORPHA:93404,1,GJA1,"[CX43, ODD, ODOD, SDTY3, connexin 43, oculodentodigital dysplasia (syndactyly type III)]",gap junction protein alpha 1,gene with protein product,6q22.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:12457340, PMID:14729836]",121014,ENSG00000152661,728,P17302,P17302,HGNC:4274 +GARD:0005089,Orphanet,93406,ORPHA:93406,1,HOXD13,[synpolydactyly],homeobox D13,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17236141],142989,ENSG00000128714,,P35453,P35453,HGNC:5136 +GARD:0005100,Orphanet,840,ORPHA:840,1,BRAF,[BRAF1],"B-Raf proto-oncogene, serine/threonine kinase",gene with protein product,7q34,Disease-causing somatic mutation(s) in,Assessed,[PMID:25532942],164757,ENSG00000157764,1943,P15056,P15056,HGNC:1097 +GARD:0005104,Orphanet,158,ORPHA:158,1,SLC22A5,"[OCTN2, SCD]",solute carrier family 22 member 5,gene with protein product,5q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22989098],603377,ENSG00000197375,1023,O76082,O76082,HGNC:10969 +GARD:0005116,Orphanet,3320,ORPHA:3320,1,RBM8A,"[BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14, ZNRP, binder of OVCA1]",RNA binding motif protein 8A,gene with protein product,1q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22366785],605313,ENSG00000265241,,Q9Y5S9,Q9Y5S9,HGNC:9905 +GARD:0005120,Orphanet,2636,ORPHA:2636,1,RNU4ATAC,"[RNU4ATAC1, U4atac]","RNA, U4atac small nuclear (U12-dependent splicing)",Non-coding RNA,2q14.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21815888, PMID:23794361]",601428,ENSG00000264229,,,,HGNC:34016 +GARD:0005121,Orphanet,90650,ORPHA:90650,1,FLNA,"[ABP-280, actin binding protein 280, alpha filamin]",filamin A,gene with protein product,Xq28,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301567],300017,ENSG00000196924,,P21333,P21333,HGNC:3754 +GARD:0005138,Orphanet,137834,ORPHA:137834,1,SH3PXD2B,[FLJ20831],SH3 and PX domains 2B,gene with protein product,5q35.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20137777],613293,ENSG00000174705,,A1X283,,HGNC:29242 +GARD:0005176,Orphanet,852,ORPHA:852,1,WAS,"[WASP, WASPA, eczema-thrombocytopenia]",WASP actin nucleation promoting factor,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:20301357],300392,ENSG00000015285,,P42768,P42768,HGNC:12731 +GARD:0005186,Orphanet,530838,ORPHA:530838,1,KRT1,[KRT1A],keratin 1,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:29489036],139350,ENSG00000167768,,P04264,P04264,HGNC:6412 +GARD:0005188,Orphanet,3204,ORPHA:3204,2,STIM1,"[D11S4896E, GOK]",stromal interaction molecule 1,gene with protein product,11p15.4,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24591628],605921,ENSG00000167323,,Q13586,Q13586,HGNC:11386 +GARD:0005188,Orphanet,3204,ORPHA:3204,2,ORAI1,"[CRACM1, FLJ14466, calcium release-activated calcium modulator 1]",ORAI calcium release-activated calcium modulator 1,gene with protein product,12q24.31,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24591628],610277,ENSG00000276045,2964,Q96D31,Q96D31,HGNC:25896 +GARD:0005191,Orphanet+OMIM,188000,OMIM:188000,1,ANKRD26,[KIAA1074],ankyrin repeat domain containing 26,gene with protein product,10p12.1,The molecular basis of the disorder is known,Unknown,,610855,ENSG00000107890,,Q9UPS8,Q9UPS8,HGNC:29186 +GARD:0005194,Orphanet,3002,ORPHA:3002,1,FCGR2C,"[CD32C, Fc gamma receptor IIc, hFcRII-C]",Fc gamma receptor IIc (gene/pseudogene),gene with protein product,1q23.3,Candidate gene tested in,Not yet assessed,[PMID:17827395],612169,ENSG00000244682,,P31995,,HGNC:15626 +GARD:0005206,Orphanet+OMIM,188470,OMIM:188470,4,NRAS,[N-ras],"NRAS proto-oncogene, GTPase",gene with protein product,1p13.2,The molecular basis of the disorder is known,Unknown,,164790,ENSG00000213281,objectId:2823,P01111,P01111,HGNC:7989 +GARD:0005206,Orphanet+OMIM,188470,OMIM:188470,4,MINPP1,[MIPP],multiple inositol-polyphosphate phosphatase 1,gene with protein product,10q23.2,The molecular basis of the disorder is known,Unknown,,605391,ENSG00000107789,,Q9UNW1,Q9UNW1,HGNC:7102 +GARD:0005206,Orphanet+OMIM,188470,OMIM:188470,4,HRAS,,"HRas proto-oncogene, GTPase",gene with protein product,11p15.5,The molecular basis of the disorder is known,Unknown,,190020,ENSG00000174775,objectId:2822,P01112,P01112,HGNC:5173 +GARD:0005206,Orphanet+OMIM,188470,OMIM:188470,4,SRGAP1,"[ARHGAP13, KIAA1304]",SLIT-ROBO Rho GTPase activating protein 1,gene with protein product,12q14.2,The molecular basis of the disorder is known,Unknown,,606523,ENSG00000196935,,Q7Z6B7,Q7Z6B7,HGNC:17382 +GARD:0005221,Orphanet,640,ORPHA:640,1,PMP22,"[GAS3, HMSNIA, HNPP, Sp110]",peripheral myelin protein 22,gene with protein product,17p12,Disease-causing germline mutation(s) in,Assessed,,601097,ENSG00000109099,,Q01453,Q01453,HGNC:9118 +GARD:0005221,Orphanet,640,ORPHA:640,1,PMP22,"[GAS3, HMSNIA, HNPP, Sp110]",peripheral myelin protein 22,gene with protein product,17p12,Role in the phenotype of,Assessed,,601097,ENSG00000109099,,Q01453,Q01453,HGNC:9118 +GARD:0005225,Orphanet,3338,ORPHA:3338,1,DDX3X,"[CAP-Rf, DBX, DDX14, HLP2, Helicase-like protein 2]",DEAD-box helicase 3 X-linked,gene with protein product,Xp11.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26235985, PMID:28371085]",300160,ENSG00000215301,,O00571,O00571,HGNC:2745 +GARD:0005231,Orphanet,293165,ORPHA:293165,1,DSP,"[DPI, DPII, KPPS2, PPKS2]",desmoplakin,gene with protein product,6p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11841538],125647,ENSG00000096696,,P15924,P15924,HGNC:3052 +GARD:0005237,Orphanet,293864,ORPHA:293864,1,RFX6,"[DNA-binding protein RFX6, MGC33442, dJ955L16.1]",regulatory factor X6,gene with protein product,6q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21965172],612659,ENSG00000185002,,Q8HWS3,Q8HWS3,HGNC:21478 +GARD:0005243,Orphanet,1215,ORPHA:1215,1,OPA1,"[Dynamin-like 120 kDa protein, mitochondrial, FLJ12460, KIAA0567, MGM1, NPG, NTG, dynamin-like guanosine triphosphatase, mitochondrial dynamin-like GTPase]",OPA1 mitochondrial dynamin like GTPase,gene with protein product,3q29,Disease-causing germline mutation(s) in,Assessed,"[PMID:18158317, PMID:22776096]",605290,ENSG00000198836,,O60313,O60313,HGNC:8140 +GARD:0005258,Orphanet,84064,ORPHA:84064,2,SKIV2L,"[170A, DDX13, HLP, SKI2W, SKIV2L1]",Ski2 like RNA helicase,gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:22444670, PMID:23302111]",600478,ENSG00000204351,,Q15477,Q15477,HGNC:10898 +GARD:0005258,Orphanet,84064,ORPHA:84064,2,TTC37,"[THES, thespin]",tetratricopeptide repeat domain 37,gene with protein product,5q15,Disease-causing germline mutation(s) in,Assessed,"[PMID:20176027, PMID:23302111]",614589,ENSG00000198677,,Q6PGP7,Q6PGP7,HGNC:23639 +GARD:0005266,Orphanet,3363,ORPHA:3363,1,PNPLA6,"[NTE, SPG39, SWS, iPLA2delta, neuropathy target esterase, sws]",patatin like phospholipase domain containing 6,gene with protein product,19p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25480986],603197,ENSG00000032444,,Q8IY17,Q8IY17,HGNC:16268 +GARD:0005270,Orphanet+OMIM,601675,OMIM:601675,1,ERCC2,"[EM9, MAG, MGC102762, MGC126218, MGC126219, TFIIH basal transcription factor complex helicase XPB subunit, complementation group 2 protein, excision repair cross-complementing rodent repair deficiency]","ERCC excision repair 2, TFIIH core complex helicase subunit",gene with protein product,19q13.32,The molecular basis of the disorder is known,Unknown,,126340,ENSG00000104884,,P18074,P18074,HGNC:3434 +GARD:0005271,Orphanet+OMIM,234050,OMIM:234050,1,MPLKIP,"[ORF20, TTDN1, non-photosensitive 1, tricothiodystrophy]",M-phase specific PLK1 interacting protein,gene with protein product,7p14.1,The molecular basis of the disorder is known,Unknown,,609188,ENSG00000168303,,Q8TAP9,,HGNC:16002 +GARD:0005279,Orphanet,2995,ORPHA:2995,2,ACTB,[ß-actin],actin beta,gene with protein product,7p22.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:22366783],102630,ENSG00000075624,,P60709,P60709,HGNC:132 +GARD:0005279,Orphanet,2995,ORPHA:2995,2,ACTG1,,actin gamma 1,gene with protein product,17q25.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:22366783],102560,ENSG00000184009,,P63261,P63261,HGNC:144 +GARD:0005287,Orphanet,868,ORPHA:868,1,TPI1,,triosephosphate isomerase 1,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,,190450,ENSG00000111669,,P60174,P60174,HGNC:12009 +GARD:0005289,Orphanet,93336,ORPHA:93336,2,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26394607],600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0005289,Orphanet,93336,ORPHA:93336,2,LMBR1,"[ACHP, FLJ11665, ZRS]",limb development membrane protein 1,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26394607],605522,ENSG00000105983,,Q8WVP7,,HGNC:13243 +GARD:0005372,Orphanet,101000,ORPHA:101000,1,SPART,"[KIAA0610, TAHCCP1]",spartin,gene with protein product,13q13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:12134148, PMID:20437587]",607111,ENSG00000133104,,Q8N0X7,Q8N0X7,HGNC:18514 +GARD:0005404,Orphanet,1410,ORPHA:1410,2,TGM3,"[E polypeptide, protein-glutamine-gamma-glutamyltransferase, TGE]",transglutaminase 3,gene with protein product,20p13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27866708],600238,ENSG00000125780,,Q08188,,HGNC:11779 +GARD:0005404,Orphanet,1410,ORPHA:1410,2,PADI3,[PDI3],peptidyl arginine deiminase 3,gene with protein product,1p36.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27866708],606755,ENSG00000142619,2878,Q9ULW8,Q9ULW8,HGNC:18337 +GARD:0005408,Orphanet,97685,ORPHA:97685,1,NF1,"[Watson disease, neurofibromatosis, von Recklinghausen disease]",neurofibromin 1,gene with protein product,17q11.2,Role in the phenotype of,Assessed,,613113,ENSG00000196712,,P21359,P21359,HGNC:7765 +GARD:0005409,Orphanet,96334,ORPHA:96334,3,DLK1,"[Delta1, FA1, Pref-1, ZOG, pG2]",delta like non-canonical Notch ligand 1,gene with protein product,14q32.2,Role in the phenotype of,Assessed,[PMID:18176563],176290,ENSG00000185559,,P80370,P80370,HGNC:2907 +GARD:0005409,Orphanet,96334,ORPHA:96334,3,RTL1,"[HUR1, MART1, Mar1, PEG11, SIRH2, Sushi-Ichi retrotransposon homolog 2, mammalian retrotransposon-derived 1, paternally expressed 11]",retrotransposon Gag like 1,gene with protein product,14q32.2,Role in the phenotype of,Assessed,[PMID:18176563],611896,ENSG00000254656,,A6NKG5,,HGNC:14665 +GARD:0005409,Orphanet,96334,ORPHA:96334,3,MEG3,"[GTL2, LINC00023, NCRNA00023, long intergenic non-protein coding RNA 23, non-protein coding RNA 23, onco-lncRNA-83]",maternally expressed 3,Non-coding RNA,14q32.2,Role in the phenotype of,Assessed,"[PMID:18176563, PMID:24801763]",605636,ENSG00000214548,,,,HGNC:14575 +GARD:0005429,Orphanet,30,ORPHA:30,1,UMPS,[orotate phosphoribosyl transferase and orotidine-5'-decarboxylase],uridine monophosphate synthetase,gene with protein product,3q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19562503, PMID:9042911]",613891,ENSG00000114491,,P11172,P11172,HGNC:12563 +GARD:0005435,Orphanet,231169,ORPHA:231169,10,CIB2,"[KIP2, kinase interacting protein 2]",calcium and integrin binding family member 2,gene with protein product,15q25.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301442, PMID:23023331]",605564,ENSG00000136425,,O75838,,HGNC:24579 +GARD:0005435,Orphanet,231169,ORPHA:231169,10,USH1K,,Usher syndrome 1K (autosomal recessive),Disorder-associated locus,10p11.21-q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301442],,,,,,HGNC:43724 +GARD:0005435,Orphanet,231169,ORPHA:231169,10,ESPN,,espin,gene with protein product,1p36.31,Disease-causing germline mutation(s) in,Assessed,[PMID:29572253],606351,ENSG00000187017,,B1AK53,,HGNC:13281 +GARD:0005435,Orphanet,231169,ORPHA:231169,10,USH1C,"[AIE-75, NY-CO-37, NY-CO-38, PDZ-73, PDZ73, PDZD7C, harmonin]",USH1 protein network component harmonin,gene with protein product,11p15.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301442],605242,ENSG00000006611,,Q9Y6N9,Q9Y6N9,HGNC:12597 +GARD:0005435,Orphanet,231169,ORPHA:231169,10,MYO7A,[NSRD2],myosin VIIA,gene with protein product,11q13.5,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301442],276903,ENSG00000137474,,Q13402,Q13402,HGNC:7606 +GARD:0005435,Orphanet,231169,ORPHA:231169,10,USH1H,,Usher syndrome 1H (autosomal recessive),Disorder-associated locus,15q22-q23,Disease-causing germline mutation(s) in,Assessed,[PMID:20301442],,,,,,HGNC:22433 +GARD:0005435,Orphanet,231169,ORPHA:231169,10,USH1G,"[ANKS4A, FLJ33924, Sans]",USH1 protein network component sans,gene with protein product,17q25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301442],607696,ENSG00000182040,,Q495M9,Q495M9,HGNC:16356 +GARD:0005435,Orphanet,231169,ORPHA:231169,10,USH1E,,"Usher syndrome 1E (autosomal recessive, severe)",Disorder-associated locus,21q21,Disease-causing germline mutation(s) in,Assessed,[PMID:20301442],,,,,,HGNC:12599 +GARD:0005435,Orphanet,231169,ORPHA:231169,10,PCDH15,"[CDHR15, cadherin-related family member 15]",protocadherin related 15,gene with protein product,10q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301442],605514,ENSG00000150275,,Q96QU1,,HGNC:14674 +GARD:0005435,Orphanet,231169,ORPHA:231169,10,CDH23,"[CDHR23, cadherin-related family member 23]",cadherin related 23,gene with protein product,10q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301442],605516,ENSG00000107736,,Q9H251,,HGNC:13733 +GARD:0005436,Orphanet+OMIM,276900,OMIM:276900,1,MYO7A,[NSRD2],myosin VIIA,gene with protein product,11q13.5,The molecular basis of the disorder is known,Unknown,,276903,ENSG00000137474,,Q13402,Q13402,HGNC:7606 +GARD:0005437,Orphanet+OMIM,276904,OMIM:276904,1,USH1C,"[AIE-75, NY-CO-37, NY-CO-38, PDZ-73, PDZ73, PDZD7C, harmonin, harmonin]",USH1 protein network component harmonin,gene with protein product,11p15.1,The molecular basis of the disorder is known,Unknown,,605242,ENSG00000006611,,Q9Y6N9,Q9Y6N9,HGNC:12597 +GARD:0005438,Orphanet+OMIM,601067,OMIM:601067,2,PCDH15,"[CDHR15, cadherin-related family member 15]",protocadherin related 15,gene with protein product,10q21.1,The molecular basis of the disorder is known,Unknown,,605514,ENSG00000150275,,Q96QU1,Q96QU1,HGNC:14674 +GARD:0005438,Orphanet+OMIM,601067,OMIM:601067,2,CDH23,"[CDHR23, cadherin-related family member 23]",cadherin related 23,gene with protein product,10q22.1,The molecular basis of the disorder is known,Unknown,,605516,ENSG00000107736,,Q9H251,Q9H251,HGNC:13733 +GARD:0005439,Orphanet+OMIM,602097,OMIM:602097,1,USH1E,,"Usher syndrome-1E, autosomal recessive, severe",unknown,21q21,The disease phenotype itself was mapped,Unknown,,602097,,,,,GeneID:7396 +GARD:0005440,Orphanet,231178,ORPHA:231178,5,MYO7A,[NSRD2],myosin VIIA,gene with protein product,11q13.5,Disease-causing germline mutation(s) in,Assessed,[PMID:24831256],276903,ENSG00000137474,,Q13402,Q13402,HGNC:7606 +GARD:0005440,Orphanet,231178,ORPHA:231178,5,PDZD7,"[FLJ23209, bA108L7.8]",PDZ domain containing 7,gene with protein product,10q24.31,Modifying germline mutation in,Assessed,[PMID:20440071],612971,ENSG00000186862,,Q9H5P4,,HGNC:26257 +GARD:0005440,Orphanet,231178,ORPHA:231178,5,WHRN,"[CIP98, PDZD7B, USH2D]",whirlin,gene with protein product,9q32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301515],607928,ENSG00000095397,,Q9P202,Q9P202,HGNC:16361 +GARD:0005440,Orphanet,231178,ORPHA:231178,5,ADGRV1,"[DKFZp761P0710, FEB4, KIAA0686, VLGR1]",adhesion G protein-coupled receptor V1,gene with protein product,5q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301515],602851,ENSG00000164199,189,Q8WXG9,,HGNC:17416 +GARD:0005440,Orphanet,231178,ORPHA:231178,5,USH2A,[RP39],usherin,gene with protein product,1q41,Disease-causing germline mutation(s) in,Assessed,[PMID:20301515],608400,ENSG00000042781,,O75445,,HGNC:12601 +GARD:0005442,Orphanet,231183,ORPHA:231183,5,CEP78,[FLJ12643],centrosomal protein 78,gene with protein product,9q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27627988],617110,ENSG00000148019,,Q5JTW2,Q5JTW2,HGNC:25740 +GARD:0005442,Orphanet,231183,ORPHA:231183,5,MT-TS2,"[RP8, TRNS2]",mitochondrially encoded tRNA-Ser (AGU/C) 2,Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Not yet assessed,,590085,ENSG00000210184,,,,HGNC:7498 +GARD:0005442,Orphanet,231183,ORPHA:231183,5,CLRN1,,clarin 1,gene with protein product,3q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19753315],606397,ENSG00000163646,,P58418,,HGNC:12605 +GARD:0005442,Orphanet,231183,ORPHA:231183,5,HARS1,"['histidine tRNA ligase 1, cytoplasmic', HisRS, Histidine tRNA ligase 1, cytoplasmic, Jo-1 antigen]",histidyl-tRNA synthetase 1,gene with protein product,5q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22279524],142810,ENSG00000170445,,P12081,P12081,HGNC:4816 +GARD:0005442,Orphanet,231183,ORPHA:231183,5,ARSG,[KIAA1001],arylsulfatase G,gene with protein product,17q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:29300381],610008,ENSG00000141337,,Q96EG1,Q96EG1,HGNC:24102 +GARD:0005443,Orphanet,887,ORPHA:887,1,HOXD13,[synpolydactyly],homeobox D13,gene with protein product,2q31.1,Candidate gene tested in,Not yet assessed,[PMID:19006232],142989,ENSG00000128714,,P35453,P35453,HGNC:5136 +GARD:0005456,Orphanet,314679,ORPHA:314679,2,FAT4,"[CDHF14, CDHR11, FAT-J, cadherin-related family member 11]",FAT atypical cadherin 4,gene with protein product,4q28.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24056717],612411,ENSG00000196159,,Q6V0I7,,HGNC:23109 +GARD:0005456,Orphanet,314679,ORPHA:314679,2,DCHS1,"[CDHR6, FIB1, FLJ11790, KIAA1773, cadherin-related family member 6]",dachsous cadherin-related 1,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:24056717],603057,ENSG00000166341,,Q96JQ0,,HGNC:13681 +GARD:0005461,Orphanet,48,ORPHA:48,2,ADGRG2,"[EDDM6, HE6, TM7LN2, epididymal protein 6]",adhesion G protein-coupled receptor G2,gene with protein product,Xp22.13,Disease-causing germline mutation(s) in,Assessed,[PMID:27476656],300572,ENSG00000173698,187,Q8IZP9,,HGNC:4516 +GARD:0005461,Orphanet,48,ORPHA:48,2,CFTR,"[ABC35, ATP-binding cassette sub-family C, member 7, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1]",CF transmembrane conductance regulator,gene with protein product,7q31.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:10651488, PMID:7539342]",602421,ENSG00000001626,707,P13569,P13569,HGNC:1884 +GARD:0005467,Orphanet,1053,ORPHA:1053,1,EPHB4,[Tyro11],EPH receptor B4,gene with protein product,7q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29444212],600011,ENSG00000196411,1833,P54760,,HGNC:3395 +GARD:0005478,Orphanet,2899,ORPHA:2899,1,LTBP3,,latent transforming growth factor beta binding protein 3,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25669657],602090,ENSG00000168056,,Q9NS15,Q9NS15,HGNC:6716 +GARD:0005495,Orphanet,99916,ORPHA:99916,1,DICER1,"[Dicer, HERNA, K12H4.8-LIKE, KIAA0928, dicer 1, double-stranded RNA-specific endoribonuclease]","dicer 1, ribonuclease III",gene with protein product,14q32.13,Major susceptibility factor in,Assessed,"[PMID:21205968, PMID:21266384, PMID:21501861, PMID:21882293, PMID:24761742]",606241,ENSG00000100697,,Q9UPY3,Q9UPY3,HGNC:17098 +GARD:0005500,Orphanet,79310,ORPHA:79310,1,MMAA,[cblA],metabolism of cobalamin associated A,gene with protein product,4q31.21,Disease-causing germline mutation(s) in,Assessed,,607481,ENSG00000151611,,Q8IVH4,Q8IVH4,HGNC:18871 +GARD:0005507,Orphanet,3086,ORPHA:3086,1,BEST1,"[BEST, BMD, Best disease, RP50]",bestrophin 1,gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:18611979, PMID:21072067]",607854,ENSG00000167995,,O76090,O76090,HGNC:12703 +GARD:0005508,Orphanet,26793,ORPHA:26793,1,ACADVL,"[ACAD6, LCACD, VLCAD]",acyl-CoA dehydrogenase very long chain,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301763],609575,ENSG00000072778,,P49748,P49748,HGNC:92 +GARD:0005519,Orphanet,894,ORPHA:894,1,PAX3,[HUP2],paired box 3,gene with protein product,2q36.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301703],606597,ENSG00000135903,,P23760,P23760,HGNC:8617 +GARD:0005520,Orphanet,895,ORPHA:895,6,MITF,"[MI, bHLHe32, homolog of mouse microphthalmia]",melanocyte inducing transcription factor,gene with protein product,3p13,Disease-causing germline mutation(s) in,Assessed,[PMID:23098757],156845,ENSG00000187098,,O75030,O75030,HGNC:7105 +GARD:0005520,Orphanet,895,ORPHA:895,6,TYR,"[OCA1, OCA1A, OCAIA, oculocutaneous albinism IA]",tyrosinase,gene with protein product,11q14.3,Modifying germline mutation in,Assessed,[PMID:9158138],606933,ENSG00000077498,2643,P14679,P14679,HGNC:12442 +GARD:0005520,Orphanet,895,ORPHA:895,6,KITLG,"[DFNA69, FPH2, KL-1, Kitl, SCF, SF, SLF, familial progressive hyperpigmentation 2, mast cell growth factor, steel factor, stem cell factor]",KIT ligand,gene with protein product,12q21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:26522471],184745,ENSG00000049130,,P21583,P21583,HGNC:6343 +GARD:0005520,Orphanet,895,ORPHA:895,6,SNAI2,"[SLUGH, SLUGH1, SNAIL2]",snail family transcriptional repressor 2,gene with protein product,8q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:12444107],602150,ENSG00000019549,,O43623,O43623,HGNC:11094 +GARD:0005520,Orphanet,895,ORPHA:895,6,SOX10,"[DOM, WS2E, WS4, dominant megacolon, mouse, human homolog of]",SRY-box transcription factor 10,gene with protein product,22q13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17999358, PMID:21898658]",602229,ENSG00000100146,,P56693,P56693,HGNC:11190 +GARD:0005520,Orphanet,895,ORPHA:895,6,EDNRB,[ETB],endothelin receptor type B,gene with protein product,13q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28236341],131244,ENSG00000136160,220,P24530,P24530,HGNC:3180 +GARD:0005522,Orphanet+OMIM,600193,OMIM:600193,1,WS2B,,"Waardenburg syndrome, type 2B",unknown,1p21-p13.3,The disease phenotype itself was mapped,Unknown,,600193,,,,,GeneID:7488 +GARD:0005523,Orphanet,896,ORPHA:896,1,PAX3,[HUP2],paired box 3,gene with protein product,2q36.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:12949970, PMID:7726174, PMID:8447316]",606597,ENSG00000135903,,P23760,P23760,HGNC:8617 +GARD:0005524,Orphanet,897,ORPHA:897,4,MITF,"[MI, bHLHe32, homolog of mouse microphthalmia]",melanocyte inducing transcription factor,gene with protein product,3p13,Disease-causing germline mutation(s) in,Assessed,[PMID:30612693],156845,ENSG00000187098,,O75030,O75030,HGNC:7105 +GARD:0005524,Orphanet,897,ORPHA:897,4,EDN3,[ET3],endothelin 3,gene with protein product,20q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:19764030],131242,ENSG00000124205,,P14138,P14138,HGNC:3178 +GARD:0005524,Orphanet,897,ORPHA:897,4,SOX10,"[DOM, WS2E, WS4, dominant megacolon, mouse, human homolog of]",SRY-box transcription factor 10,gene with protein product,22q13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:22378281, PMID:24311220]",602229,ENSG00000100146,,P56693,P56693,HGNC:11190 +GARD:0005524,Orphanet,897,ORPHA:897,4,EDNRB,[ETB],endothelin receptor type B,gene with protein product,13q22.3,Disease-causing germline mutation(s) in,Assessed,,131244,ENSG00000136160,220,P24530,P24530,HGNC:3180 +GARD:0005528,Orphanet,893,ORPHA:893,3,PAX6,"[AN, Aniridia 1, Aniridia 2, D11S812E, WAGR, aniridia, keratitis]",paired box 6,gene with protein product,11p13,Role in the phenotype of,Assessed,"[PMID:20301534, PMID:23266638]",607108,ENSG00000007372,,P26367,P26367,HGNC:8620 +GARD:0005528,Orphanet,893,ORPHA:893,3,WT1,"[AWT1, NPHS4, WAGR, WIT-2]",WT1 transcription factor,gene with protein product,11p13,Role in the phenotype of,Assessed,"[PMID:20301534, PMID:23266638]",607102,ENSG00000184937,,P19544,P19544,HGNC:12796 +GARD:0005528,Orphanet,893,ORPHA:893,3,BDNF,[neurotrophin],brain derived neurotrophic factor,gene with protein product,11p14.1,Modifying germline mutation in,Assessed,[PMID:23266638],113505,ENSG00000176697,,P23560,,HGNC:1033 +GARD:0005534,Orphanet,2510,ORPHA:2510,4,RAB3GAP2,"[DKFZP434D245, KIAA0839, RAB3-GAP150, SPG69]",RAB3 GTPase activating non-catalytic protein subunit 2,gene with protein product,1q41,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23420520],609275,ENSG00000118873,,Q9H2M9,Q9H2M9,HGNC:17168 +GARD:0005534,Orphanet,2510,ORPHA:2510,4,RAB3GAP1,"[KIAA0066, RAB3GAP, RAB3GAP130, WARBM1]",RAB3 GTPase activating protein catalytic subunit 1,gene with protein product,2q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23420520],602536,ENSG00000115839,,Q15042,Q15042,HGNC:17063 +GARD:0005534,Orphanet,2510,ORPHA:2510,4,TBC1D20,[dJ852M4.2],TBC1 domain family member 20,gene with protein product,20p13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24239381],611663,ENSG00000125875,,Q96BZ9,Q96BZ9,HGNC:16133 +GARD:0005534,Orphanet,2510,ORPHA:2510,4,RAB18,,"RAB18, member RAS oncogene family",gene with protein product,10p12.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23420520],602207,ENSG00000099246,,Q9NP72,Q9NP72,HGNC:14244 +GARD:0005538,Orphanet,1541,ORPHA:1541,1,MSX2,"[CRS2, FPP, HOX8, MSH, PFM, craniosynostosis, type 2]",msh homeobox 2,gene with protein product,5q35.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:23918290, PMID:23949913]",123101,ENSG00000120149,,P35548,P35548,HGNC:7392 +GARD:0005539,Orphanet,1827,ORPHA:1827,1,ZSWIM6,[KIAA1577],zinc finger SWIM-type containing 6,gene with protein product,5q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25105228],615951,ENSG00000130449,,Q9HCJ5,,HGNC:29316 +GARD:0005552,Orphanet,603,ORPHA:603,2,TIA1,"[Nucleolysin TIA-1 isoform p40, T-cell-restricted intracellular antigen-1, TIA-1, nucleolysin TIA-1 isoform p40]",TIA1 cytotoxic granule associated RNA binding protein,gene with protein product,2p13.3,Modifying germline mutation in,Assessed,[PMID:29457785],603518,ENSG00000116001,,P31483,P31483,HGNC:11802 +GARD:0005552,Orphanet,603,ORPHA:603,2,TIA1,"[Nucleolysin TIA-1 isoform p40, T-cell-restricted intracellular antigen-1, TIA-1, nucleolysin TIA-1 isoform p40]",TIA1 cytotoxic granule associated RNA binding protein,gene with protein product,2p13.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:23348830, PMID:23401021]",603518,ENSG00000116001,,P31483,P31483,HGNC:11802 +GARD:0005552,Orphanet,603,ORPHA:603,2,SQSTM1,"[A170, autophagy receptor p62, p60, p62, p62B]",sequestosome 1,gene with protein product,5q35.3,Modifying germline mutation in,Assessed,[PMID:29457785],601530,ENSG00000161011,,Q13501,Q13501,HGNC:11280 +GARD:0005565,Orphanet,319182,ORPHA:319182,1,KMT2A,"[ALL-1, CXXC7, HRX, HTRX1, Histone-lysine N-methyltransferase 2A, MLL1A, TRX1]",lysine methyltransferase 2A,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22795537],159555,ENSG00000118058,2688,Q03164,Q03164,HGNC:7132 +GARD:0005576,Orphanet,220,ORPHA:220,1,WT1,"[AWT1, NPHS4, WAGR, WIT-2]",WT1 transcription factor,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,[PMID:1655284],607102,ENSG00000184937,,P19544,P19544,HGNC:12796 +GARD:0005579,Orphanet,3459,ORPHA:3459,2,LAS1L,"[FLJ12525, Las1]",LAS1 like ribosome biogenesis factor,gene with protein product,Xq12,Disease-causing germline mutation(s) in,Assessed,[PMID:25644381],300964,ENSG00000001497,,Q9Y4W2,Q9Y4W2,HGNC:25726 +GARD:0005579,Orphanet,3459,ORPHA:3459,2,HDAC8,"[KDAC8, RPD3]",histone deacetylase 8,gene with protein product,Xq13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22889856],300269,ENSG00000147099,2619,Q9BY41,Q9BY41,HGNC:13315 +GARD:0005584,Orphanet,1553,ORPHA:1553,1,SMO,"[FZD11, frizzled family member 11]","smoothened, frizzled class receptor",gene with protein product,7q32.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:27236920],601500,ENSG00000128602,239,Q99835,Q99835,HGNC:11119 +GARD:0005587,Orphanet,2228,ORPHA:2228,1,MSX1,"[HYD1, OFC5]",msh homeobox 1,gene with protein product,4p16.2,Disease-causing germline mutation(s) in,Assessed,[PMID:11369996],142983,ENSG00000163132,,P28360,,HGNC:7391 +GARD:0005589,Orphanet,1667,ORPHA:1667,1,EIF2AK3,"[PEK, PERK]",eukaryotic translation initiation factor 2 alpha kinase 3,gene with protein product,2p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21050479],604032,ENSG00000172071,2017,Q9NZJ5,Q9NZJ5,HGNC:3255 +GARD:0005592,Orphanet,3464,ORPHA:3464,1,DCAF17,"[FLJ13096, Woodhouse-Sakati syndrome]",DDB1 and CUL4 associated factor 17,gene with protein product,2q31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19026396, PMID:20507343, PMID:21964978, PMID:23447832, PMID:24464444]",612515,ENSG00000115827,,Q5H9S7,Q5H9S7,HGNC:25784 +GARD:0005595,Orphanet,65282,ORPHA:65282,1,DSP,"[DPI, DPII, KPPS2, PPKS2]",desmoplakin,gene with protein product,6p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11063735],125647,ENSG00000096696,,P15924,P15924,HGNC:3052 +GARD:0005597,Orphanet,170,ORPHA:170,5,LIPH,"[LPDLR, PLA1B, mPA-PLA1, mPA-PLA1alpha, phospholipase A(1)]",lipase H,gene with protein product,3q27.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21426374],607365,ENSG00000163898,,Q8WWY8,Q8WWY8,HGNC:18483 +GARD:0005597,Orphanet,170,ORPHA:170,5,LPAR6,[P2Y5],lysophosphatidic acid receptor 6,gene with protein product,13q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21426374],609239,ENSG00000139679,163,P43657,P43657,HGNC:15520 +GARD:0005597,Orphanet,170,ORPHA:170,5,KRT25,,keratin 25,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26160856],616646,ENSG00000204897,,Q7Z3Z0,Q7Z3Z0,HGNC:30839 +GARD:0005597,Orphanet,170,ORPHA:170,5,KRT74,"[K6IRS4, KRT5C, KRT6IRS4]",keratin 74,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:20346438, PMID:21188418]",608248,ENSG00000170484,,Q7RTS7,Q7RTS7,HGNC:28929 +GARD:0005597,Orphanet,170,ORPHA:170,5,KRT71,"[K6IRS1, KRT6IRS, KRT6IRS1]",keratin 71,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:22592156],608245,ENSG00000139648,,Q3SY84,Q3SY84,HGNC:28927 +GARD:0005613,Orphanet+OMIM,300387,OMIM:300387,1,ACSL4,"[ACS4, LACS4, lignoceroyl-CoA synthase, long-chain fatty-acid-Coenzyme A ligase 4]",acyl-CoA synthetase long chain family member 4,gene with protein product,Xq23,The molecular basis of the disorder is known,Unknown,,300157,ENSG00000068366,,O60488,O60488,HGNC:3571 +GARD:0005614,Orphanet+OMIM,300419,OMIM:300419,1,ARX,"[CT121, EIEE1, ISSX, cancer/testis antigen 121]",aristaless related homeobox,gene with protein product,Xp21.3,The molecular basis of the disorder is known,Unknown,,300382,ENSG00000004848,,Q96QS3,,HGNC:18060 +GARD:0005615,Orphanet,3063,ORPHA:3063,1,SMS,"[MRSR, SPMSY, SpS]",spermine synthase,gene with protein product,Xp22.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23805436],300105,ENSG00000102172,,P52788,P52788,HGNC:11123 +GARD:0005617,Orphanet,59,ORPHA:59,1,SLC16A2,"[MCT7, MCT8, XPCT]",solute carrier family 16 member 2,gene with protein product,Xq13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:18398436, PMID:20301789]",300095,ENSG00000147100,992,P36021,P36021,HGNC:10923 +GARD:0005618,Orphanet,276,ORPHA:276,1,IL2RG,[CD132],interleukin 2 receptor subunit gamma,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,,308380,ENSG00000147168,2303,P31785,P31785,HGNC:6010 +GARD:0005620,Orphanet,93602,ORPHA:93602,1,MOCOS,"[FLJ20733, HMCS, MOS]",molybdenum cofactor sulfurase,gene with protein product,18q12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:11302742, PMID:17368066]",613274,ENSG00000075643,,Q96EN8,Q96EN8,HGNC:18234 +GARD:0005621,Orphanet,93601,ORPHA:93601,1,XDH,"[XO, XOR]",xanthine dehydrogenase,gene with protein product,2p23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:9153281],607633,ENSG00000158125,2646,P47989,P47989,HGNC:12805 +GARD:0005622,Orphanet,909,ORPHA:909,1,CYP27A1,"[CP27, CTX, cerebrotendinous xanthomatosis]",cytochrome P450 family 27 subfamily A member 1,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:20301583],606530,ENSG00000135929,1369,Q02318,Q02318,HGNC:2605 +GARD:0005623,Orphanet,3202,ORPHA:3202,3,KCNN4,"[IK, KCa3.1, hIKCa1, hKCa4, hSK4, intermediate conductance calcium-activated potassium channel, small conductance calcium-activated potassium channel 4]",potassium calcium-activated channel subfamily N member 4,gene with protein product,19q13.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:26148990, PMID:26198474]",602754,ENSG00000104783,384,O15554,O15554,HGNC:6293 +GARD:0005623,Orphanet,3202,ORPHA:3202,3,SLC4A1,"[CD233, FR, Froese blood group, RTA1A, SW, Swann blood group, WR, Wright blood group]",solute carrier family 4 member 1 (Diego blood group),gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:16227998],109270,ENSG00000004939,904,P02730,P02730,HGNC:11027 +GARD:0005623,Orphanet,3202,ORPHA:3202,3,PIEZO1,[KIAA0233],piezo type mechanosensitive ion channel component 1,gene with protein product,16q24.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:22529292, PMID:23695678]",611184,ENSG00000103335,2945,Q92508,,HGNC:28993 +GARD:0005624,Orphanet+OMIM,278700,OMIM:278700,1,XPA,"[XP1, XPAC]","XPA, DNA damage recognition and repair factor",gene with protein product,9q22.33,The molecular basis of the disorder is known,Unknown,,611153,ENSG00000136936,,P23025,P23025,HGNC:12814 +GARD:0005625,Orphanet+OMIM,610651,OMIM:610651,1,ERCC3,"[BTF2, RAD25, Ssl2, XPB, xeroderma pigmentosum group B complementing]","ERCC excision repair 3, TFIIH core complex helicase subunit",gene with protein product,2q14.3,The molecular basis of the disorder is known,Unknown,,133510,ENSG00000163161,,P19447,P19447,HGNC:3435 +GARD:0005626,Orphanet+OMIM,278720,OMIM:278720,1,XPC,"[RAD4, XPCC, xeroderma pigmentosum group C protein]","XPC complex subunit, DNA damage recognition and repair factor",gene with protein product,3p25.1,The molecular basis of the disorder is known,Unknown,,613208,ENSG00000154767,,Q01831,Q01831,HGNC:12816 +GARD:0005627,Orphanet+OMIM,278740,OMIM:278740,1,DDB2,"[DDB p48 subunit, DDBB, FLJ34321, UV-DDB2, UV-damaged DNA-binding protein 2, XPE, xeroderma pigmentosum group E protein]",damage specific DNA binding protein 2,gene with protein product,11p11.2,The molecular basis of the disorder is known,Unknown,,600811,ENSG00000134574,,Q92466,Q92466,HGNC:2718 +GARD:0005628,Orphanet+OMIM,278760,OMIM:278760,1,ERCC4,"[FANCQ, RAD1, complementation group F, xeroderma pigmentosum]","ERCC excision repair 4, endonuclease catalytic subunit",gene with protein product,16p13.12,The molecular basis of the disorder is known,Unknown,,133520,ENSG00000175595,,Q92889,Q92889,HGNC:3436 +GARD:0005629,Orphanet+OMIM,278780,OMIM:278780,1,ERCC5,[Cockayne syndrome],"ERCC excision repair 5, endonuclease",gene with protein product,13q33.1,The molecular basis of the disorder is known,Unknown,,133530,ENSG00000134899,,P28715,P28715,HGNC:3437 +GARD:0005630,Orphanet,90342,ORPHA:90342,1,POLH,"[RAD30A, XP-V]",DNA polymerase eta,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24130121],603968,ENSG00000170734,,Q9Y253,Q9Y253,HGNC:9181 +GARD:0005643,Orphanet,101,ORPHA:101,1,ATN1,[B37],atrophin 1,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,,607462,ENSG00000111676,,P54259,P54259,HGNC:3033 +GARD:0005644,Orphanet+OMIM,601154,OMIM:601154,1,SCN5A,"[CDCD2, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, long QT syndrome 3]",sodium voltage-gated channel alpha subunit 5,gene with protein product,3p22.2,The molecular basis of the disorder is known,Unknown,,600163,ENSG00000183873,objectId:582,Q14524,Q14524,HGNC:10593 +GARD:0005653,Orphanet,251576,ORPHA:251576,12,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Biomarker tested in,Assessed,[PMID:17785346],191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0005653,Orphanet,251576,ORPHA:251576,12,NFKBIA,"[IKBA, IkappaBalpha, MAD-3, NF-kappa-B inhibitor alpha]",NFKB inhibitor alpha,gene with protein product,14q13.2,Biomarker tested in,Assessed,[PMID:25215581],164008,ENSG00000100906,,P25963,P25963,HGNC:7797 +GARD:0005653,Orphanet,251576,ORPHA:251576,12,EGFR,"[ERBB1, ERRP, erb-b2 receptor tyrosine kinase 1, erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)]",epidermal growth factor receptor,gene with protein product,7p11.2,Part of a fusion gene in,Assessed,"[PMID:24071942, PMID:24075187]",131550,ENSG00000146648,1797,P00533,P00533,HGNC:3236 +GARD:0005653,Orphanet,251576,ORPHA:251576,12,TACC3,"[ERIC-1, ERIC1, Tacc4, maskin]",transforming acidic coiled-coil containing protein 3,gene with protein product,4p16.3,Part of a fusion gene in,Assessed,[PMID:22837387],605303,ENSG00000013810,,Q9Y6A5,,HGNC:11524 +GARD:0005653,Orphanet,251576,ORPHA:251576,12,IDH1,,isocitrate dehydrogenase (NADP(+)) 1,gene with protein product,2q34,Biomarker tested in,Assessed,[PMID:18772396],147700,ENSG00000138413,2884,O75874,O75874,HGNC:5382 +GARD:0005653,Orphanet,251576,ORPHA:251576,12,MGMT,[methylated-DNA--protein-cysteine methyltransferase],O-6-methylguanine-DNA methyltransferase,gene with protein product,10q26.3,Biomarker tested in,Assessed,"[PMID:20556478, PMID:22380407]",156569,ENSG00000170430,,P16455,P16455,HGNC:7059 +GARD:0005653,Orphanet,251576,ORPHA:251576,12,SEPTIN14,[FLJ44060],septin 14,gene with protein product,7p11.2,Part of a fusion gene in,Assessed,"[PMID:24071942, PMID:24075187]",612140,ENSG00000154997,,Q6ZU15,,HGNC:33280 +GARD:0005653,Orphanet,251576,ORPHA:251576,12,LZTR1,"[BTBD29, LZTR-1]",leucine zipper like transcription regulator 1,gene with protein product,22q11.21,Disease-causing somatic mutation(s) in,Assessed,"[PMID:23917401, PMID:24071842]",600574,ENSG00000099949,,Q8N653,,HGNC:6742 +GARD:0005653,Orphanet,251576,ORPHA:251576,12,FGFR3,"[CD333, CEK2, JTK4]",fibroblast growth factor receptor 3,gene with protein product,4p16.3,Part of a fusion gene in,Assessed,[PMID:22837387],134934,ENSG00000068078,1810,P22607,P22607,HGNC:3690 +GARD:0005653,Orphanet,251576,ORPHA:251576,12,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Part of a fusion gene in,Assessed,[PMID:22837387],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0005653,Orphanet,251576,ORPHA:251576,12,PPARG,"[NR1C3, PPARG1, PPARG2, PPARgamma]",peroxisome proliferator activated receptor gamma,gene with protein product,3p25.2,Biomarker tested in,Assessed,[PMID:10851250],601487,ENSG00000132170,595,P37231,P37231,HGNC:9236 +GARD:0005653,Orphanet,251576,ORPHA:251576,12,TACC1,,transforming acidic coiled-coil containing protein 1,gene with protein product,8p11.22,Part of a fusion gene in,Assessed,[PMID:22837387],605301,ENSG00000147526,,O75410,,HGNC:11522 +GARD:0005654,Orphanet,163699,ORPHA:163699,2,TFE3,"[TFEA, bHLHe33, transcription factor E family, member A]",transcription factor binding to IGHM enhancer 3,gene with protein product,Xp11.23,Part of a fusion gene in,Assessed,[PMID:21279521],314310,ENSG00000068323,,P19532,P19532,HGNC:11752 +GARD:0005654,Orphanet,163699,ORPHA:163699,2,ASPSCR1,"[ASPL, ASPS, TUG, Tether containing UBX domain for GLUT4, UBX domain protein 9, UBXD9, UBXN9]","ASPSCR1 tether for SLC2A4, UBX domain containing",gene with protein product,17q25.3,Part of a fusion gene in,Assessed,[PMID:21279521],606236,ENSG00000169696,,Q9BZE9,Q9BZE9,HGNC:13825 +GARD:0005658,Orphanet,90795,ORPHA:90795,1,CYP11B1,"[CPN1, FHI, P450C11, steroid 11-beta-monooxygenase]",cytochrome P450 family 11 subfamily B member 1,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,,610613,ENSG00000160882,1359,P15538,P15538,HGNC:2591 +GARD:0005659,Orphanet,752,ORPHA:752,1,HSD17B3,"[SDR12C2, short chain dehydrogenase/reductase family 12C, member 2]",hydroxysteroid 17-beta dehydrogenase 3,gene with protein product,9q22.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,,605573,ENSG00000130948,,P37058,P37058,HGNC:5212 +GARD:0005661,Orphanet,79315,ORPHA:79315,2,D2HGDH,"[D2HGD, FLJ42195, MGC25181]",D-2-hydroxyglutarate dehydrogenase,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20020533],609186,ENSG00000180902,,Q8N465,Q8N465,HGNC:28358 +GARD:0005661,Orphanet,79315,ORPHA:79315,2,IDH2,,isocitrate dehydrogenase (NADP(+)) 2,gene with protein product,15q26.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20847235],147650,ENSG00000182054,2885,P48735,P48735,HGNC:5383 +GARD:0005663,Orphanet,67047,ORPHA:67047,2,MICOS13,"[MIC12, MIC13, P117, QIL1]",mitochondrial contact site and cristae organizing system subunit 13,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27485409],616658,ENSG00000174917,,Q5XKP0,Q5XKP0,HGNC:33702 +GARD:0005663,Orphanet,67047,ORPHA:67047,2,OPA3,"[3-methylglutaconic aciduria type III, FLJ22187, MGA3]",outer mitochondrial membrane lipid metabolism regulator OPA3,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301646],606580,ENSG00000125741,,Q9H6K4,,HGNC:8142 +GARD:0005665,Orphanet+OMIM,210200,OMIM:210200,1,MCCC1,"[3-methylcrotonyl-CoA carboxylase biotin containing subunit, MCCA, MCCCα, methylcrotonoyl-CoA carboxylase alpha]",methylcrotonyl-CoA carboxylase subunit 1,gene with protein product,3q27.1,The molecular basis of the disorder is known,Unknown,,609010,ENSG00000078070,,Q96RQ3,Q96RQ3,HGNC:6936 +GARD:0005666,Orphanet,7,ORPHA:7,2,WASHC5,[strumpellin],WASH complex subunit 5,gene with protein product,8q24.13,Disease-causing germline mutation(s) in,Assessed,[PMID:24065355],610657,ENSG00000164961,,Q12768,,HGNC:28984 +GARD:0005666,Orphanet,7,ORPHA:7,2,CCDC22,[JM1],coiled-coil domain containing 22,gene with protein product,Xp11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24916641],300859,ENSG00000101997,,O60826,O60826,HGNC:28909 +GARD:0005667,Orphanet,2616,ORPHA:2616,3,CUL7,[dJ20C7.5],cullin 7,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301654],609577,ENSG00000044090,,Q14999,Q14999,HGNC:21024 +GARD:0005667,Orphanet,2616,ORPHA:2616,3,CCDC8,"[3M3, DKFZp564K0322, PPP1R20, protein phosphatase 1, regulatory subunit 20]",coiled-coil domain containing 8,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301654, PMID:21737058]",614145,ENSG00000169515,,Q9H0W5,Q9H0W5,HGNC:25367 +GARD:0005667,Orphanet,2616,ORPHA:2616,3,OBSL1,[KIAA0657],obscurin like cytoskeletal adaptor 1,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:20301654],610991,ENSG00000124006,,O75147,O75147,HGNC:29092 +GARD:0005668,Orphanet,2118,ORPHA:2118,1,HPD,"[4-HPPD, 4HPPD, GLOD3, glyoxalase domain containing 3]",4-hydroxyphenylpyruvate dioxygenase,gene with protein product,12q24.31,Candidate gene tested in,Not yet assessed,"[PMID:11073718, PMID:17560158]",609695,ENSG00000158104,2621,P32754,P32754,HGNC:5147 +GARD:0005671,Orphanet,243,ORPHA:243,10,BMP15,[GDF9B],bone morphogenetic protein 15,gene with protein product,Xp11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:15136966],300247,ENSG00000130385,,O95972,O95972,HGNC:1068 +GARD:0005671,Orphanet,243,ORPHA:243,10,NR5A1,"[AD4BP, ELP, FTZ1, SF-1, SF1, hSF-1, steroidogenic factor 1]",nuclear receptor subfamily 5 group A member 1,gene with protein product,9q33.3,Disease-causing germline mutation(s) in,Assessed,,184757,ENSG00000136931,632,Q13285,Q13285,HGNC:7983 +GARD:0005671,Orphanet,243,ORPHA:243,10,SPIDR,,scaffold protein involved in DNA repair,gene with protein product,8q11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27967308],615384,ENSG00000164808,,Q14159,Q14159,HGNC:28971 +GARD:0005671,Orphanet,243,ORPHA:243,10,FSHR,"[FSHRO, LGR1]",follicle stimulating hormone receptor,gene with protein product,2p16.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:11889179, PMID:12571157, PMID:7553856]",136435,ENSG00000170820,253,P23945,P23945,HGNC:3969 +GARD:0005671,Orphanet,243,ORPHA:243,10,MRPS22,"[C3orf5, GIBT, GK002, MRP-S22]",mitochondrial ribosomal protein S22,gene with protein product,3q23,Disease-causing germline mutation(s) in,Assessed,[PMID:29566152],605810,ENSG00000175110,,P82650,P82650,HGNC:14508 +GARD:0005671,Orphanet,243,ORPHA:243,10,PSMC3IP,"[GT198, HUMGT198A, Hop2, TBP-1 interacting protein, TBPIP, homologous-pairing protein 2 homolog]",PSMC3 interacting protein,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21963259],608665,ENSG00000131470,,Q9P2W1,Q9P2W1,HGNC:17928 +GARD:0005671,Orphanet,243,ORPHA:243,10,POLR3H,"[C25, KIAA1665, RPC8]",RNA polymerase III subunit H,gene with protein product,22q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30830215],619801,ENSG00000100413,,Q9Y535,Q9Y535,HGNC:30349 +GARD:0005671,Orphanet,243,ORPHA:243,10,ZSWIM7,,zinc finger SWIM-type containing 7,gene with protein product,17p12,Disease-causing germline mutation(s) in,Assessed,[PMID:34402903],,,,,,HGNC:26993 +GARD:0005671,Orphanet,243,ORPHA:243,10,BNC1,[HsT19447],basonuclin 1,gene with protein product,15q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30010909],601930,ENSG00000169594,,Q01954,,HGNC:1081 +GARD:0005671,Orphanet,243,ORPHA:243,10,NUP107,"[NUP84, nuclear pore complex protein Nup107]",nucleoporin 107,gene with protein product,12q15,Disease-causing germline mutation(s) in,Assessed,[PMID:26485283],607617,ENSG00000111581,,P57740,P57740,HGNC:29914 +GARD:0005680,Orphanet,753,ORPHA:753,1,SRD5A2,[3-oxo-5-alpha-steroid 4-dehydrogenase 2],steroid 5 alpha-reductase 2,gene with protein product,2p23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:8723114, PMID:9497950]",607306,ENSG00000277893,2633,P31213,P31213,HGNC:11285 +GARD:0005681,Orphanet,33572,ORPHA:33572,1,OPLAH,"[5-Opase, OPLA]","5-oxoprolinase, ATP-hydrolysing",gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21651516, PMID:27477828]",614243,ENSG00000178814,,O14841,O14841,HGNC:8149 +GARD:0005682,Orphanet,13,ORPHA:13,1,PTS,[PTPS],6-pyruvoyltetrahydropterin synthase,gene with protein product,11q23.1,Disease-causing germline mutation(s) in,Assessed,,612719,ENSG00000150787,,Q03393,Q03393,HGNC:9689 +GARD:0005683,Orphanet,818,ORPHA:818,1,DHCR7,,7-dehydrocholesterol reductase,gene with protein product,11q13.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301322],602858,ENSG00000172893,,Q9UBM7,Q9UBM7,HGNC:2860 +GARD:0005686,Orphanet,371,ORPHA:371,1,PFKM,"[PFK-1, PPP1R122, protein phosphatase 1, regulatory subunit 122]","phosphofructokinase, muscle",gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,,610681,ENSG00000152556,,P08237,P08237,HGNC:8877 +GARD:0005688,Orphanet,1777,ORPHA:1777,1,C12ORF57,"[C10, GRCC10, gene rich cluster C10 gene]",chromosome 12 open reading frame 57,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:23453665, PMID:23453666]",615140,ENSG00000111678,,Q99622,,HGNC:29521 +GARD:0005691,Orphanet,773,ORPHA:773,2,PHYH,"[PAHX, PHYH1, RD, Refsum disease, phytanoyl-CoA dioxygenase]",phytanoyl-CoA 2-hydroxylase,gene with protein product,10p13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301527],602026,ENSG00000107537,,O14832,O14832,HGNC:8940 +GARD:0005691,Orphanet,773,ORPHA:773,2,PEX7,"[PTS2R, RD, Refsum disease]",peroxisomal biogenesis factor 7,gene with protein product,6q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301527],601757,ENSG00000112357,,O00628,,HGNC:8860 +GARD:0005692,Orphanet,90797,ORPHA:90797,1,AR,"[AIS, HUMARA, Kennedy disease, NR3C4, SMAX1, testicular feminization]",androgen receptor,gene with protein product,Xq12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301602],313700,ENSG00000169083,628,P10275,P10275,HGNC:644 +GARD:0005693,Orphanet,29207,ORPHA:29207,1,HLA-B,,"major histocompatibility complex, class I, B",gene with protein product,6p21.33,Major susceptibility factor in,Assessed,[PMID:33014690],142830,ENSG00000234745,,P01889,P30486,HGNC:4932 +GARD:0005693,Orphanet,29207,ORPHA:29207,1,HLA-B,,"major histocompatibility complex, class I, B",gene with protein product,6p21.33,Biomarker tested in,Not yet assessed,,142830,ENSG00000234745,,P01889,P30486,HGNC:4932 +GARD:0005694,Orphanet,791,ORPHA:791,83,SCAPER,[Zfp291],S-phase cyclin A associated protein in the ER,gene with protein product,15q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28794130],611611,ENSG00000140386,,Q9BY12,,HGNC:13081 +GARD:0005694,Orphanet,791,ORPHA:791,83,SPATA7,[HSD3],spermatogenesis associated 7,gene with protein product,14q31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19268277, PMID:20301590]",609868,ENSG00000042317,,Q9P0W8,,HGNC:20423 +GARD:0005694,Orphanet,791,ORPHA:791,83,AHR,[bHLHe76],aryl hydrocarbon receptor,gene with protein product,7p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29726989],600253,ENSG00000106546,2951,P35869,P35869,HGNC:348 +GARD:0005694,Orphanet,791,ORPHA:791,83,IDH3A,"[H-IDH alpha, NAD(H)-specific isocitrate dehydrogenase alpha subunit, NAD+-specific ICDH, isocitrate dehydrogenase (NAD+) alpha chain, isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial, isocitric dehydrogenase]",isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha,gene with protein product,15q25.1,Candidate gene tested in,Not yet assessed,[PMID:28412069],601149,ENSG00000166411,,P50213,P50213,HGNC:5384 +GARD:0005694,Orphanet,791,ORPHA:791,83,ZNF408,[FLJ12827],zinc finger protein 408,gene with protein product,11p11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25882705],616454,ENSG00000175213,,Q9H9D4,Q9H9D4,HGNC:20041 +GARD:0005694,Orphanet,791,ORPHA:791,83,SLC7A14,"[KIAA1613, PPP1R142, protein phosphatase 1, regulatory subunit 142]",solute carrier family 7 member 14,gene with protein product,3q26.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24670872],615720,ENSG00000013293,895,Q8TBB6,,HGNC:29326 +GARD:0005694,Orphanet,791,ORPHA:791,83,IMPG1,"[GP147, IPM150]",interphotoreceptor matrix proteoglycan 1,gene with protein product,6q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:32817297],602870,ENSG00000112706,,Q17R60,,HGNC:6055 +GARD:0005694,Orphanet,791,ORPHA:791,83,KIAA1549,,KIAA1549,gene with protein product,7q34,Disease-causing germline mutation(s) in,Assessed,[PMID:30120214],613344,ENSG00000122778,,Q9HCM3,Q9HCM3,HGNC:22219 +GARD:0005694,Orphanet,791,ORPHA:791,83,TTC8,"[BBS8, RP51]",tetratricopeptide repeat domain 8,gene with protein product,14q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],608132,ENSG00000165533,,Q8TAM2,Q8TAM2,HGNC:20087 +GARD:0005694,Orphanet,791,ORPHA:791,83,SAG,"[ARRESTIN, RP47, arrestin 1, rod arrestin]",S-antigen visual arrestin,gene with protein product,2q37.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],181031,ENSG00000130561,,P10523,P10523,HGNC:10521 +GARD:0005694,Orphanet,791,ORPHA:791,83,RP9,"[PAP-1, Pim-1 kinase associated protein]",RP9 pre-mRNA splicing factor,gene with protein product,7p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],607331,ENSG00000164610,,Q8TA86,Q8TA86,HGNC:10288 +GARD:0005694,Orphanet,791,ORPHA:791,83,ROM1,"[ROM, TSPAN23]",retinal outer segment membrane protein 1,gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],180721,ENSG00000149489,,Q03395,,HGNC:10254 +GARD:0005694,Orphanet,791,ORPHA:791,83,RGR,"[RGR-opsin, RP44]",retinal G protein coupled receptor,gene with protein product,10q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],600342,ENSG00000148604,,P47804,P47804,HGNC:9990 +GARD:0005694,Orphanet,791,ORPHA:791,83,PRPH2,"[CACD2, TSPAN22, rd2, retinal peripherin]",peripherin 2,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],179605,ENSG00000112619,,P23942,,HGNC:9942 +GARD:0005694,Orphanet,791,ORPHA:791,83,PRPF3,"[HPRP3, Prp3, SNRNP90, hPrp3]",pre-mRNA processing factor 3,gene with protein product,1q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],607301,ENSG00000117360,,O43395,O43395,HGNC:17348 +GARD:0005694,Orphanet,791,ORPHA:791,83,NRL,"[D14S46E, NRL-MAF, RP27]",neural retina leucine zipper,gene with protein product,14q11.2-q12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],162080,ENSG00000129535,,P54845,,HGNC:8002 +GARD:0005694,Orphanet,791,ORPHA:791,83,NR2E3,"[PNR, RP37, rd7]",nuclear receptor subfamily 2 group E member 3,gene with protein product,15q23,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],604485,ENSG00000278570,616,Q9Y5X4,Q9Y5X4,HGNC:7974 +GARD:0005694,Orphanet,791,ORPHA:791,83,IMPG2,"[IPM200, RP56, SPACRCAN]",interphotoreceptor matrix proteoglycan 2,gene with protein product,3q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],607056,ENSG00000081148,,Q9BZV3,,HGNC:18362 +GARD:0005694,Orphanet,791,ORPHA:791,83,GUCA1B,"[GCAP2, RP48]",guanylate cyclase activator 1B,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],602275,ENSG00000112599,,Q9UMX6,Q9UMX6,HGNC:4679 +GARD:0005694,Orphanet,791,ORPHA:791,83,FAM161A,[FLJ13305],FAM161 centrosomal protein A,gene with protein product,2p15,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],613596,ENSG00000170264,,Q3B820,Q3B820,HGNC:25808 +GARD:0005694,Orphanet,791,ORPHA:791,83,CERKL,,ceramide kinase like,gene with protein product,2q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],608381,ENSG00000188452,,Q49MI3,,HGNC:21699 +GARD:0005694,Orphanet,791,ORPHA:791,83,CA4,"[CAIV, Car4]",carbonic anhydrase 4,gene with protein product,17q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],114760,ENSG00000167434,2599,P22748,P22748,HGNC:1375 +GARD:0005694,Orphanet,791,ORPHA:791,83,ABCA4,"[ARMD2, CORD3, FFM, Stargardt disease]",ATP binding cassette subfamily A member 4,gene with protein product,1p22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],601691,ENSG00000198691,759,P78363,P78363,HGNC:34 +GARD:0005694,Orphanet,791,ORPHA:791,83,RBP3,"[D10S64, D10S65, D10S66, RP66, interstitial retinol-binding protein 3]",retinol binding protein 3,gene with protein product,10q11.22,Disease-causing germline mutation(s) in,Assessed,"[PMID:19074801, PMID:20301590]",180290,ENSG00000265203,2548,P10745,P10745,HGNC:9921 +GARD:0005694,Orphanet,791,ORPHA:791,83,BBS2,,Bardet-Biedl syndrome 2,gene with protein product,16q13,Disease-causing germline mutation(s) in,Assessed,[PMID:25541840],606151,ENSG00000125124,,Q9BXC9,Q9BXC9,HGNC:967 +GARD:0005694,Orphanet,791,ORPHA:791,83,PRPF4,"[HPRP4, HPRP4P, PRP4, PRP4/STK/WD splicing factor, Prp4p, SNRNP60, U4/U6 small nuclear ribonucleoprotein Prp4]",pre-mRNA processing factor 4,gene with protein product,9q32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24419317],607795,ENSG00000136875,,O43172,O43172,HGNC:17349 +GARD:0005694,Orphanet,791,ORPHA:791,83,AHI1,"[FLJ20069, JBTS3, Jouberin, ORF1]",Abelson helper integration site 1,gene with protein product,6q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28442540],608894,ENSG00000135541,,Q8N157,Q8N157,HGNC:21575 +GARD:0005694,Orphanet,791,ORPHA:791,83,ARL3,[ARFL3],ADP ribosylation factor like GTPase 3,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,[PMID:26964041],604695,ENSG00000138175,,P36405,P36405,HGNC:694 +GARD:0005694,Orphanet,791,ORPHA:791,83,TUB,[rd5],TUB bipartite transcription factor,gene with protein product,11p15.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24375934],601197,ENSG00000166402,,P50607,,HGNC:12406 +GARD:0005694,Orphanet,791,ORPHA:791,83,POMGNT1,"[FLJ20277, LGMD2O, MGAT1.2, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase]","protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26908613],606822,ENSG00000085998,,Q8WZA1,Q8WZA1,HGNC:19139 +GARD:0005694,Orphanet,791,ORPHA:791,83,IFT140,"[KIAA0590, gs114]",intraflagellar transport 140,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26216056],614620,ENSG00000187535,,Q96RY7,Q96RY7,HGNC:29077 +GARD:0005694,Orphanet,791,ORPHA:791,83,LRAT,"[LCA14, phosphatidylcholine--retinol O-acyltransferase]",lecithin retinol acyltransferase,gene with protein product,4q32.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18055821, PMID:20301590]",604863,ENSG00000121207,,O95237,O95237,HGNC:6685 +GARD:0005694,Orphanet,791,ORPHA:791,83,HGSNAT,"[FLJ32731, HGNAT]",heparan-alpha-glucosaminide N-acetyltransferase,gene with protein product,8p11.21-p11.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25859010],610453,ENSG00000165102,,Q68CP4,Q68CP4,HGNC:26527 +GARD:0005694,Orphanet,791,ORPHA:791,83,RPE65,"[BCO family, member 3, BCO3, LCA2, all-trans-retinyl-palmitate hydrolase, rd12, retinol isomerase]",retinoid isomerohydrolase RPE65,gene with protein product,1p31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],180069,ENSG00000116745,,Q16518,Q16518,HGNC:10294 +GARD:0005694,Orphanet,791,ORPHA:791,83,RP1,"[DCDC4A, ORP1, doublecortin domain containing 4A, oxygen-regulated protein 1]",RP1 axonemal microtubule associated,gene with protein product,8q11.23-q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],603937,ENSG00000104237,,P56715,,HGNC:10263 +GARD:0005694,Orphanet,791,ORPHA:791,83,RLBP1,[CRALBP],retinaldehyde binding protein 1,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],180090,ENSG00000140522,2545,P12271,P12271,HGNC:10024 +GARD:0005694,Orphanet,791,ORPHA:791,83,PRPF6,"[ANT-1, Prp6, RP60, SNRNP102, TOM, U5-102K, bB152O15.1, hPrp6]",pre-mRNA processing factor 6,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],613979,ENSG00000101161,,O94906,O94906,HGNC:15860 +GARD:0005694,Orphanet,791,ORPHA:791,83,PRCD,[RP36],photoreceptor disc component,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],610598,ENSG00000214140,,Q00LT1,,HGNC:32528 +GARD:0005694,Orphanet,791,ORPHA:791,83,KLHL7,"[KLHL6, RP42, SBBI26, retinitis pigmentosa 42]",kelch like family member 7,gene with protein product,7p15.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],611119,ENSG00000122550,,Q8IXQ5,,HGNC:15646 +GARD:0005694,Orphanet,791,ORPHA:791,83,IMPDH1,"[LCA11, sWSS2608]",inosine monophosphate dehydrogenase 1,gene with protein product,7q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],146690,ENSG00000106348,2624,P20839,P20839,HGNC:6052 +GARD:0005694,Orphanet,791,ORPHA:791,83,EYS,"[SPAM, bA166P24.2, bA307F22.3, bA74E24.1, dJ1018A4.2, dJ303F19.1]",eyes shut homolog,gene with protein product,6q12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],612424,ENSG00000188107,,Q5T1H1,,HGNC:21555 +GARD:0005694,Orphanet,791,ORPHA:791,83,CNGB1,"[CNGB1B, GAR1, GARP, RCNC2, RCNCb, RP45, cyclic nucleotide-gated cation channel beta-1, glutamic acid-rich protein]",cyclic nucleotide gated channel subunit beta 1,gene with protein product,16q21,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],600724,ENSG00000070729,398,Q14028,Q14028,HGNC:2151 +GARD:0005694,Orphanet,791,ORPHA:791,83,CNGA1,"[CNG1, RCNC1, RCNCa, RP49, cGMP-gated cation channel alpha-1]",cyclic nucleotide gated channel subunit alpha 1,gene with protein product,4p12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],123825,ENSG00000198515,394,P29973,P29973,HGNC:2148 +GARD:0005694,Orphanet,791,ORPHA:791,83,OFD1,"[71-7A, JBTS10, Joubert syndrome type 10]",OFD1 centriole and centriolar satellite protein,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22619378],300170,ENSG00000046651,,O75665,O75665,HGNC:2567 +GARD:0005694,Orphanet,791,ORPHA:791,83,CDHR1,"[CORD15, KIAA1775, RP65]",cadherin related family member 1,gene with protein product,10q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20087419],609502,ENSG00000148600,,Q96JP9,,HGNC:14550 +GARD:0005694,Orphanet,791,ORPHA:791,83,REEP6,"[DP1L1, FLJ25383, Yip2f, deleted in polyposis 1-like 1, polyposis locus protein 1-like 1]",receptor accessory protein 6,gene with protein product,19p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27889058],609346,ENSG00000115255,,Q96HR9,R-HSA-8939719,HGNC:30078 +GARD:0005694,Orphanet,791,ORPHA:791,83,RP1L1,"[DCDC4B, doublecortin domain containing 4B]",RP1 like 1,gene with protein product,8p23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:31833436],608581,ENSG00000183638,,Q8IWN7,,HGNC:15946 +GARD:0005694,Orphanet,791,ORPHA:791,83,DHX38,"[KIAA0224, PRP16, PRPF16, hPrp16]",DEAH-box helicase 38,gene with protein product,16q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30208423],605584,ENSG00000140829,,Q92620,Q92620,HGNC:17211 +GARD:0005694,Orphanet,791,ORPHA:791,83,IFT172,"[BBS20, NPHP17, SLB, osm-1, wim, wimple homolog]",intraflagellar transport 172,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25168386],607386,ENSG00000138002,,Q9UG01,Q9UG01,HGNC:30391 +GARD:0005694,Orphanet,791,ORPHA:791,83,RPGR,[CORDX1],retinitis pigmentosa GTPase regulator,gene with protein product,Xp11.4,Disease-causing germline mutation(s) in,Assessed,,312610,ENSG00000156313,,Q92834,Q92834,HGNC:10295 +GARD:0005694,Orphanet,791,ORPHA:791,83,RP2,"[NM23-H10, NME10, TBCCD2]",RP2 activator of ARL3 GTPase,gene with protein product,Xp11.3,Disease-causing germline mutation(s) in,Assessed,,300757,ENSG00000102218,,O75695,O75695,HGNC:10274 +GARD:0005694,Orphanet,791,ORPHA:791,83,TULP1,"[LCA15, TUBL1]",TUB like protein 1,gene with protein product,6p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],602280,ENSG00000112041,,O00294,O00294,HGNC:12423 +GARD:0005694,Orphanet,791,ORPHA:791,83,PRPF8,"[PRPC8, Prp8, SNRNP220, hPrp8]",pre-mRNA processing factor 8,gene with protein product,17p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],607300,ENSG00000174231,,Q6P2Q9,Q6P2Q9,HGNC:17340 +GARD:0005694,Orphanet,791,ORPHA:791,83,PROM1,"[AC133, CD133, CORD12, RP41]",prominin 1,gene with protein product,4p15.32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],604365,ENSG00000007062,,O43490,,HGNC:9454 +GARD:0005694,Orphanet,791,ORPHA:791,83,PDE6G,[RP57],phosphodiesterase 6G,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],180073,ENSG00000185527,1316,P18545,P18545,HGNC:8789 +GARD:0005694,Orphanet,791,ORPHA:791,83,CRB1,[LCA8],crumbs cell polarity complex component 1,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],604210,ENSG00000134376,,P82279,P82279,HGNC:2343 +GARD:0005694,Orphanet,791,ORPHA:791,83,CLRN1,,clarin 1,gene with protein product,3q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],606397,ENSG00000163646,,P58418,,HGNC:12605 +GARD:0005694,Orphanet,791,ORPHA:791,83,ARL6,[RP55],ADP ribosylation factor like GTPase 6,gene with protein product,3q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],608845,ENSG00000113966,,Q9H0F7,Q9H0F7,HGNC:13210 +GARD:0005694,Orphanet,791,ORPHA:791,83,AGBL5,"[CCP5, FLJ21839, cytosolic carboxypeptidase 5]",AGBL carboxypeptidase 5,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26720455],615900,ENSG00000084693,,Q8NDL9,Q8NDL9,HGNC:26147 +GARD:0005694,Orphanet,791,ORPHA:791,83,ARHGEF18,"[KIAA0521, MGC15913, P114-RhoGEF, Rho-specific guanine nucleotide exchange factor p114, p114RhoGEF]",Rho/Rac guanine nucleotide exchange factor 18,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28132693],616432,ENSG00000104880,,Q6ZSZ5,R-HSA-195104,HGNC:17090 +GARD:0005694,Orphanet,791,ORPHA:791,83,IFT88,"[D13S1056E, MGC26259, Tg737, hTg737, polaris homolog]",intraflagellar transport 88,gene with protein product,13q12.11,Disease-causing germline mutation(s) in,Assessed,[PMID:29978320],600595,ENSG00000032742,,Q13099,,HGNC:20606 +GARD:0005694,Orphanet,791,ORPHA:791,83,NEK2,"[HsPK 21, NEK2A, NLK1, PPP1R111, RP67, protein phosphatase 1, regulatory subunit 111]",NIMA related kinase 2,gene with protein product,1q32.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24043777],604043,ENSG00000117650,2117,P51955,P51955,HGNC:7745 +GARD:0005694,Orphanet,791,ORPHA:791,83,ARL2BP,"[BART, BART1, binder of Arl2]",ADP ribosylation factor like GTPase 2 binding protein,gene with protein product,16q13,Disease-causing germline mutation(s) in,Assessed,[PMID:23849777],615407,ENSG00000102931,,Q9Y2Y0,Q9Y2Y0,HGNC:17146 +GARD:0005694,Orphanet,791,ORPHA:791,83,CFAP418,"[BBS21, Bardet-Biedl syndrome 21, CORD16, FAP418, FLJ30600, MOT25, RP64, cone-rod dystrophy 16]",cilia and flagella associated protein 418,gene with protein product,8q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301590, PMID:22177090]",614477,ENSG00000156172,,Q96NL8,,HGNC:27232 +GARD:0005694,Orphanet,791,ORPHA:791,83,KIZ,[HT013],kizuna centrosomal protein,gene with protein product,20p11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24680887],615757,ENSG00000088970,,Q2M2Z5,Q2M2Z5,HGNC:15865 +GARD:0005694,Orphanet,791,ORPHA:791,83,ZNF513,"[FLJ32203, RP58, Zfp513]",zinc finger protein 513,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],613598,ENSG00000163795,,Q8N8E2,Q8N8E2,HGNC:26498 +GARD:0005694,Orphanet,791,ORPHA:791,83,USH2A,[RP39],usherin,gene with protein product,1q41,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],608400,ENSG00000042781,,O75445,,HGNC:12601 +GARD:0005694,Orphanet,791,ORPHA:791,83,TOPORS,"[LUN, TP53BPL]","TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase",gene with protein product,9p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],609507,ENSG00000197579,,Q9NS56,,HGNC:21653 +GARD:0005694,Orphanet,791,ORPHA:791,83,SNRNP200,"[BRR2, HELIC2, KIAA0788, U5 snRNP specific protein, 200 KD, U5-200KD, bad response to refrigeration 2 homolog (S. cerevisiae)]",small nuclear ribonucleoprotein U5 subunit 200,gene with protein product,2q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],601664,ENSG00000144028,,O75643,O75643,HGNC:30859 +GARD:0005694,Orphanet,791,ORPHA:791,83,SEMA4A,"[CORD10, FLJ12287, SemB]",semaphorin 4A,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],607292,ENSG00000196189,,Q9H3S1,Q9H3S1,HGNC:10729 +GARD:0005694,Orphanet,791,ORPHA:791,83,RHO,"[CSNBAD1, OPN2, opsin 2, rod pigment]",rhodopsin,gene with protein product,3q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],180380,ENSG00000163914,2963,P08100,P08100,HGNC:10012 +GARD:0005694,Orphanet,791,ORPHA:791,83,RDH12,"[FLJ30273, LCA13, RP53, SDR7C2, short chain dehydrogenase/reductase family 7C, member 2]",retinol dehydrogenase 12,gene with protein product,14q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],608830,ENSG00000139988,,Q96NR8,Q96NR8,HGNC:19977 +GARD:0005694,Orphanet,791,ORPHA:791,83,PRPF31,"[NY-BR-99, PRP31, SNRNP61, hPrp31]",pre-mRNA processing factor 31,gene with protein product,19q13.42,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],606419,ENSG00000105618,,Q8WWY3,Q8WWY3,HGNC:15446 +GARD:0005694,Orphanet,791,ORPHA:791,83,PDE6B,"[CSNB3, CSNBAD2, RP40, congenital stationary night blindness 3, autosomal dominant, rd1, rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta]",phosphodiesterase 6B,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],180072,ENSG00000133256,1313,P35913,P35913,HGNC:8786 +GARD:0005694,Orphanet,791,ORPHA:791,83,PDE6A,"[RP43, Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha, retinitis pigmentosa type 43]",phosphodiesterase 6A,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],180071,ENSG00000132915,1312,P16499,P16499,HGNC:8785 +GARD:0005694,Orphanet,791,ORPHA:791,83,PCARE,"[FLJ34931, RP54]",photoreceptor cilium actin regulator,gene with protein product,2p23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],613425,ENSG00000179270,,A6NGG8,,HGNC:34383 +GARD:0005694,Orphanet,791,ORPHA:791,83,MERTK,"[RP38, Tyro12, c-Eyk, mer]","MER proto-oncogene, tyrosine kinase",gene with protein product,2q13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],604705,ENSG00000153208,1837,Q12866,Q12866,HGNC:7027 +GARD:0005694,Orphanet,791,ORPHA:791,83,MAK,"[RP62, dJ417M14.2]",male germ cell associated kinase,gene with protein product,6p24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],154235,ENSG00000111837,2061,P20794,P20794,HGNC:6816 +GARD:0005694,Orphanet,791,ORPHA:791,83,IDH3B,[RP46],isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],604526,ENSG00000101365,,O43837,O43837,HGNC:5385 +GARD:0005694,Orphanet,791,ORPHA:791,83,FSCN2,"[RFSN, RP30, retinal fascin]","fascin actin-bundling protein 2, retinal",gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],607643,ENSG00000186765,,O14926,,HGNC:3960 +GARD:0005694,Orphanet,791,ORPHA:791,83,DHDDS,"[DS, FLJ13102, HDS, RP59, hCIT]",dehydrodolichyl diphosphate synthase subunit,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],608172,ENSG00000117682,,Q86SQ9,Q86SQ9,HGNC:20603 +GARD:0005694,Orphanet,791,ORPHA:791,83,CRX,"[CRD, LCA7, OTX3, orthodenticle homeobox 3]",cone-rod homeobox,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],602225,ENSG00000105392,,O43186,O43186,HGNC:2383 +GARD:0005694,Orphanet,791,ORPHA:791,83,BEST1,"[BEST, BMD, Best disease, RP50]",bestrophin 1,gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301590],607854,ENSG00000167995,,O76090,O76090,HGNC:12703 +GARD:0005695,Orphanet,90050,ORPHA:90050,3,LRP5,"[BMND1, EVR4, HBM, LR3, OPS, OPTA1, VBCH2]",LDL receptor related protein 5,gene with protein product,11q13.2,Major susceptibility factor in,Assessed,[PMID:23441120],603506,ENSG00000162337,,O75197,O75197,HGNC:6697 +GARD:0005695,Orphanet,90050,ORPHA:90050,3,FZD4,[CD344],frizzled class receptor 4,gene with protein product,11q14.2,Major susceptibility factor in,Assessed,[PMID:23441120],604579,ENSG00000174804,232,Q9ULV1,Q9ULV1,HGNC:4042 +GARD:0005695,Orphanet,90050,ORPHA:90050,3,NDP,[norrin],norrin cystine knot growth factor NDP,gene with protein product,Xp11.3,Major susceptibility factor in,Assessed,[PMID:20301506],300658,ENSG00000124479,,Q00604,Q00604,HGNC:7678 +GARD:0005696,Orphanet,778,ORPHA:778,1,MECP2,,methyl-CpG binding protein 2,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301670],300005,ENSG00000169057,,P51608,P51608,HGNC:6990 +GARD:0005701,Orphanet,782,ORPHA:782,2,PITX2,"[ARP1, Brx1, IGDS, Otlx2, RS]",paired like homeodomain 2,gene with protein product,4q25,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19513095],601542,ENSG00000164093,,Q99697,Q99697,HGNC:9005 +GARD:0005701,Orphanet,782,ORPHA:782,2,PITX2,"[ARP1, Brx1, IGDS, Otlx2, RS]",paired like homeodomain 2,gene with protein product,4q25,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:19513095],601542,ENSG00000164093,,Q99697,Q99697,HGNC:9005 +GARD:0005701,Orphanet,782,ORPHA:782,2,FOXC1,"[ARA, FREAC3, IGDA, IHG1]",forkhead box C1,gene with protein product,6p25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19513095],601090,ENSG00000054598,,Q12948,Q12948,HGNC:3800 +GARD:0005708,Orphanet,930,ORPHA:930,4,HLA-DQB1,"[CELIAC1, IDDM1]","major histocompatibility complex, class II, DQ beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,[PMID:24997987],604305,ENSG00000179344,,P01920,P01920,HGNC:4944 +GARD:0005708,Orphanet,930,ORPHA:930,4,NOS1,[nNOS],nitric oxide synthase 1,gene with protein product,12q24.22,Disease-causing germline mutation(s) in,Assessed,[PMID:25479138],163731,ENSG00000089250,1251,P29475,P29475,HGNC:7872 +GARD:0005708,Orphanet,930,ORPHA:930,4,HLA-DQA1,[CELIAC1],"major histocompatibility complex, class II, DQ alpha 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,[PMID:24997987],146880,ENSG00000196735,,P01909,P01909,HGNC:4942 +GARD:0005708,Orphanet,930,ORPHA:930,4,CRLF1,"[CISS, CISS1, CLF, CLF-1, cold-induced sweating syndrome]",cytokine receptor like factor 1,gene with protein product,19p12,Disease-causing germline mutation(s) in,Assessed,[PMID:27976805],604237,ENSG00000006016,,O75462,O75462,HGNC:2364 +GARD:0005721,Orphanet,36,ORPHA:36,2,GLI3,"[ACLS, DNA-binding protein, PAP-A, PAPA, PAPA1, PAPB, PPDIV, oncogene GLI3, zinc finger protein GLI3]",GLI family zinc finger 3,gene with protein product,7p14.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:12414818, PMID:23633388]",165240,ENSG00000106571,,P10071,P10071,HGNC:4319 +GARD:0005721,Orphanet,36,ORPHA:36,2,KIF7,[JBTS12],kinesin family member 7,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:21552264, PMID:23142271]",611254,ENSG00000166813,,Q2M1P5,Q2M1P5,HGNC:30497 +GARD:0005723,Orphanet,37,ORPHA:37,1,SLC39A4,"[AWMS2, ZIP4]",solute carrier family 39 member 4,gene with protein product,8q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12787121, PMID:22082465, PMID:22166942]",607059,ENSG00000147804,1183,Q6P5W5,Q6P5W5,HGNC:17129 +GARD:0005724,Orphanet,950,ORPHA:950,2,PRKAR1A,"[CNC1, Carney complex type 1]",protein kinase cAMP-dependent type I regulatory subunit alpha,gene with protein product,17q24.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:21651393, PMID:22464250, PMID:22464252]",188830,ENSG00000108946,1472,P10644,P10644,HGNC:9388 +GARD:0005724,Orphanet,950,ORPHA:950,2,PDE4D,"[Phosphodiesterase E3 dunce homolog (Drosophila), cAMP-specific 3',5'-cyclic phosphodiesterase 4D, phosphodiesterase E3 dunce homolog (Drosophila)]",phosphodiesterase 4D,gene with protein product,5q11.2-q12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:22464250, PMID:22464252]",600129,ENSG00000113448,1303,Q08499,Q08499,HGNC:8783 +GARD:0005725,Orphanet,963,ORPHA:963,2,AIP,"[ARA9, Ah receptor activated 9, FK506-binding protein 37, FKBP prolyl isomerase 16, FKBP16, FKBP37, X-associated protein-2, XAP2, aryl hydrocarbon receptor-associated protein 9, hepatitis B virus X-associated cellular protein 2]",aryl hydrocarbon receptor interacting protein,gene with protein product,11q13.2,Major susceptibility factor in,Assessed,"[PMID:20530095, PMID:20616502, PMID:23038625, PMID:23300914]",605555,ENSG00000110711,,O00170,O00170,HGNC:358 +GARD:0005725,Orphanet,963,ORPHA:963,2,GPR101,,G protein-coupled receptor 101,gene with protein product,Xq26.3,Major susceptibility factor in,Assessed,[PMID:25470569],300393,ENSG00000165370,125,Q96P66,,HGNC:14963 +GARD:0005727,Orphanet,199296,ORPHA:199296,1,TBX19,"[TBS 19, TPIT, dj747L4.1]",T-box transcription factor 19,gene with protein product,1q24.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15476446, PMID:15613420]",604614,ENSG00000143178,,O60806,O60806,HGNC:11596 +GARD:0005732,Orphanet,79276,ORPHA:79276,1,HMBS,,hydroxymethylbilane synthase,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301372],609806,ENSG00000256269,,P08397,P08397,HGNC:4982 +GARD:0005739,Orphanet,974,ORPHA:974,6,EOGT,"[AER61, AER61 glycosyltransferase, FLJ33770]",EGF domain specific O-linked N-acetylglucosamine transferase,gene with protein product,3p14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23522784],614789,ENSG00000163378,,Q5NDL2,,HGNC:28526 +GARD:0005739,Orphanet,974,ORPHA:974,6,ARHGAP31,[CDGAP],Rho GTPase activating protein 31,gene with protein product,3q13.32-q13.33,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:21565291],610911,ENSG00000031081,,Q2M1Z3,Q2M1Z3,HGNC:29216 +GARD:0005739,Orphanet,974,ORPHA:974,6,DLL4,,delta like canonical Notch ligand 4,gene with protein product,15q15.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26299364],605185,ENSG00000128917,,Q9NR61,Q9NR61,HGNC:2910 +GARD:0005739,Orphanet,974,ORPHA:974,6,NOTCH1,,notch receptor 1,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25132448],190198,ENSG00000148400,2861,P46531,P46531,HGNC:7881 +GARD:0005739,Orphanet,974,ORPHA:974,6,RBPJ,"[CBF1, IGKJRB, KBF2, RBP-J, RBPJK, SUH, Suppressor of hairless homolog (Drosophila), suppressor of hairless homolog (Drosophila)]",recombination signal binding protein for immunoglobulin kappa J region,gene with protein product,4p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22883147],147183,ENSG00000168214,,Q06330,Q06330,HGNC:5724 +GARD:0005739,Orphanet,974,ORPHA:974,6,DOCK6,"[KIAA1395, ZIR1]",dedicator of cytokinesis 6,gene with protein product,19p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21820096],614194,ENSG00000130158,,Q96HP0,Q96HP0,HGNC:19189 +GARD:0005748,Orphanet,277,ORPHA:277,1,ADA,[ADA1],adenosine deaminase,gene with protein product,20q13.12,Disease-causing germline mutation(s) in,Assessed,,608958,ENSG00000196839,1230,P00813,P00813,HGNC:186 +GARD:0005761,Orphanet,98880,ORPHA:98880,3,FGB,,fibrinogen beta chain,gene with protein product,4q31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:11460507, PMID:17295221]",134830,ENSG00000171564,,P02675,P02675,HGNC:3662 +GARD:0005761,Orphanet,98880,ORPHA:98880,3,FGA,,fibrinogen alpha chain,gene with protein product,4q31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:11460507, PMID:17295221]",134820,ENSG00000171560,,P02671,P02671,HGNC:3661 +GARD:0005761,Orphanet,98880,ORPHA:98880,3,FGG,,fibrinogen gamma chain,gene with protein product,4q32.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:11460507, PMID:17295221]",134850,ENSG00000171557,,P02679,P02679,HGNC:3694 +GARD:0005775,Orphanet,56,ORPHA:56,1,HGD,"[HGO, homogentisate oxidase]","homogentisate 1,2-dioxygenase",gene with protein product,3q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301627],607474,ENSG00000113924,,Q93099,Q93099,HGNC:4892 +GARD:0005783,Orphanet,726,ORPHA:726,1,POLG,"[POLG1, POLGA]","DNA polymerase gamma, catalytic subunit",gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:22000311, PMID:22237560, PMID:23545419]",174763,ENSG00000140521,,P54098,P54098,HGNC:9179 +GARD:0005784,Orphanet,60,ORPHA:60,1,SERPINA1,"[A1A, A1AT, AAT, PI1, alpha-1 antitrypsin, alpha-1 proteinase inhibitor, alpha-1-antitrypsin, alpha1AT, anti-elastase, protease inhibitor 1, protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin]",serpin family A member 1,gene with protein product,14q32.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301692],107400,ENSG00000197249,,P01009,P01009,HGNC:8941 +GARD:0005786,Orphanet,803,ORPHA:803,37,GLT8D1,"[AD-017, FLJ14611]",glycosyltransferase 8 domain containing 1,gene with protein product,3p21.1,Major susceptibility factor in,Assessed,[PMID:30811981],618399,ENSG00000016864,,Q68CQ7,,HGNC:24870 +GARD:0005786,Orphanet,803,ORPHA:803,37,PON2,"[arylesterase 2, paraoxonase nirs]",paraoxonase 2,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20582942, PMID:23941283]",602447,ENSG00000105854,3053,Q15165,Q15165,HGNC:9205 +GARD:0005786,Orphanet,803,ORPHA:803,37,GLE1,[hGLE1],GLE1 RNA export mediator,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,[PMID:25343993],603371,ENSG00000119392,,Q53GS7,Q53GS7,HGNC:4315 +GARD:0005786,Orphanet,803,ORPHA:803,37,CFAP410,"[A2, LRRC76, YF5, leucine rich repeat containing 76, nuclear encoded mitochondrial protein]",cilia and flagella associated protein 410,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:26974433, PMID:27455348]",603191,ENSG00000160226,,O43822,O43822,HGNC:1260 +GARD:0005786,Orphanet,803,ORPHA:803,37,DCTN1,[p150 glued homolog (Drosophila)],dynactin subunit 1,gene with protein product,2p13.1,Candidate gene tested in,Not yet assessed,[PMID:23941283],601143,ENSG00000204843,,Q14203,Q14203,HGNC:2711 +GARD:0005786,Orphanet,803,ORPHA:803,37,TAF15,"[Npl3, RBP56, hTAFII68]",TATA-box binding protein associated factor 15,gene with protein product,17q12,Candidate gene tested in,Not yet assessed,[PMID:21438137],601574,ENSG00000270647,,Q92804,Q92804,HGNC:11547 +GARD:0005786,Orphanet,803,ORPHA:803,37,VCP,"[CDC48, IBMPFD, TERA, p97, transitional endoplasmic reticulum ATPase]",valosin containing protein,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24085347],601023,ENSG00000165280,,P55072,P55072,HGNC:12666 +GARD:0005786,Orphanet,803,ORPHA:803,37,FIG4,"[ALS11, CMT4J, SAC3, dJ249I4.1, hSac3]",FIG4 phosphoinositide 5-phosphatase,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,[PMID:24085347],609390,ENSG00000112367,,Q92562,Q92562,HGNC:16873 +GARD:0005786,Orphanet,803,ORPHA:803,37,MATR3,"[KIAA0723, MGC9105, VCPDM]",matrin 3,gene with protein product,5q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24686783],164015,ENSG00000015479,,P43243,P43243,HGNC:6912 +GARD:0005786,Orphanet,803,ORPHA:803,37,PON3,[arylesterase 3],paraoxonase 3,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20582942, PMID:23941283]",602720,ENSG00000105852,3054,Q15166,Q15166,HGNC:9206 +GARD:0005786,Orphanet,803,ORPHA:803,37,TBK1,[NAK],TANK binding kinase 1,gene with protein product,12q14.2,Major susceptibility factor in,Assessed,[PMID:25700176],604834,ENSG00000183735,2237,Q9UHD2,Q9UHD2,HGNC:11584 +GARD:0005786,Orphanet,803,ORPHA:803,37,NEFH,"[NF-H, NFH]",neurofilament heavy chain,gene with protein product,22q12.2,Major susceptibility factor in,Assessed,[PMID:23941283],162230,ENSG00000100285,,P12036,,HGNC:7737 +GARD:0005786,Orphanet,803,ORPHA:803,37,ANG,"[RAA1, RNASE5, ribonuclease A family member 5]",angiogenin,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301623, PMID:23941283]",105850,ENSG00000214274,,P03950,P03950,HGNC:483 +GARD:0005786,Orphanet,803,ORPHA:803,37,VAPB,"[ALS8, VAP-B, VAP-C]",VAMP associated protein B and C,gene with protein product,20q13.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301623, PMID:23941283]",605704,ENSG00000124164,,O95292,O95292,HGNC:12649 +GARD:0005786,Orphanet,803,ORPHA:803,37,SOD1,[IPOA],superoxide dismutase 1,gene with protein product,21q22.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301623, PMID:23941283]",147450,ENSG00000142168,,P00441,P00441,HGNC:11179 +GARD:0005786,Orphanet,803,ORPHA:803,37,ANXA11,[annexin XI],annexin A11,gene with protein product,10q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28469040],602572,ENSG00000122359,,P50995,P50995,HGNC:535 +GARD:0005786,Orphanet,803,ORPHA:803,37,CHCHD10,"[MIX17 homolog A, MIX17A, N27C7-4]",coiled-coil-helix-coiled-coil-helix domain containing 10,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,"[PMID:25113787, PMID:25113788, PMID:25155093, PMID:25261971, PMID:25261972, PMID:25348631, PMID:25348633]",615903,ENSG00000250479,,Q8WYQ3,Q8WYQ3,HGNC:15559 +GARD:0005786,Orphanet,803,ORPHA:803,37,UBQLN2,"[CHAP1/DSK2, Chap1, Dsk2, LIC-2, N4BP4, NEDD4 binding protein 4, PLIC-2, PLIC2, RIHFB2157]",ubiquilin 2,gene with protein product,Xp11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:24085347],300264,ENSG00000188021,,Q9UHD9,Q9UHD9,HGNC:12509 +GARD:0005786,Orphanet,803,ORPHA:803,37,OPTN,"[FIP-2, FIP2, HIP7, HYPL, NRP, TFIIIA-INTP]",optineurin,gene with protein product,10p13,Disease-causing germline mutation(s) in,Assessed,[PMID:24085347],602432,ENSG00000123240,,Q96CV9,Q96CV9,HGNC:17142 +GARD:0005786,Orphanet,803,ORPHA:803,37,FUS,"[FUS1, HNRNPP2, TLS, heterogeneous nuclear ribonucleoprotein P2, hnRNP-P2, translocated in liposarcoma]",FUS RNA binding protein,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24085347],137070,ENSG00000089280,,P35637,P35637,HGNC:4010 +GARD:0005786,Orphanet,803,ORPHA:803,37,ATXN2,"[ATX2, trinucleotide repeat containing 13]",ataxin 2,gene with protein product,12q24.12,Major susceptibility factor in,Assessed,[PMID:24085347],601517,ENSG00000204842,,Q99700,Q99700,HGNC:10555 +GARD:0005786,Orphanet,803,ORPHA:803,37,ERBB4,"[ALS19, HER4, human epidermal growth factor receptor 4]",erb-b2 receptor tyrosine kinase 4,gene with protein product,2q34,Disease-causing germline mutation(s) in,Assessed,[PMID:24119685],600543,ENSG00000178568,1799,Q15303,Q15303,HGNC:3432 +GARD:0005786,Orphanet,803,ORPHA:803,37,HNRNPA1,"[ALS20, hnRNP-A1, hnRNPA1]",heterogeneous nuclear ribonucleoprotein A1,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:23455423],164017,ENSG00000135486,,P09651,P09651,HGNC:5031 +GARD:0005786,Orphanet,803,ORPHA:803,37,TREM2,"[TREM-2, Trem2a, Trem2b, Trem2c]",triggering receptor expressed on myeloid cells 2,gene with protein product,6p21.1,Major susceptibility factor in,Assessed,[PMID:24535663],605086,ENSG00000095970,,Q9NZC2,Q9NZC2,HGNC:17761 +GARD:0005786,Orphanet,803,ORPHA:803,37,PFN1,,profilin 1,gene with protein product,17p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22801503, PMID:23428184, PMID:24085347]",176610,ENSG00000108518,,P07737,P07737,HGNC:8881 +GARD:0005786,Orphanet,803,ORPHA:803,37,EPHA4,[Hek8],EPH receptor A4,gene with protein product,2q36.1,Candidate gene tested in,Not yet assessed,[PMID:22922411],602188,ENSG00000116106,1824,P54764,P54764,HGNC:3388 +GARD:0005786,Orphanet,803,ORPHA:803,37,CHMP2B,"[CHMP2.5, DKFZP564O123, VPS2 homolog B (S. cerevisiae), VPS2B]",charged multivesicular body protein 2B,gene with protein product,3p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:16807408, PMID:20352044, PMID:23155438]",609512,ENSG00000083937,,Q9UQN3,Q9UQN3,HGNC:24537 +GARD:0005786,Orphanet,803,ORPHA:803,37,PPARGC1A,"[PGC-1alpha, PGC1, PGC1A, PPARgamma coactivator 1alpha]",PPARG coactivator 1 alpha,gene with protein product,4p15.2,Modifying germline mutation in,Assessed,[PMID:23669350],604517,ENSG00000109819,,Q9UBK2,Q9UBK2,HGNC:9237 +GARD:0005786,Orphanet,803,ORPHA:803,37,TARDBP,"[ALS10, TDP-43]",TAR DNA binding protein,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,[PMID:24085347],605078,ENSG00000120948,,Q13148,Q13148,HGNC:11571 +GARD:0005786,Orphanet,803,ORPHA:803,37,C9ORF72,"[DENND9, DENNL72, MGC23980]",C9orf72-SMCR8 complex subunit,gene with protein product,9p21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24085347],614260,ENSG00000147894,,Q96LT7,,HGNC:28337 +GARD:0005786,Orphanet,803,ORPHA:803,37,DAO,"[DAAO, DAMOX]",D-amino acid oxidase,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20368421, PMID:24085347]",124050,ENSG00000110887,,P14920,P14920,HGNC:2671 +GARD:0005786,Orphanet,803,ORPHA:803,37,PON1,"[ESA, arylesterase 1, esterase A]",paraoxonase 1,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20582942, PMID:23941283]",168820,ENSG00000005421,3052,P27169,P27169,HGNC:9204 +GARD:0005786,Orphanet,803,ORPHA:803,37,UNC13A,"[KIAA1032, Munc13-1]",unc-13 homolog A,gene with protein product,19p13.11,Major susceptibility factor in,Assessed,"[PMID:19734901, PMID:24931836]",609894,ENSG00000130477,,Q9UPW8,,HGNC:23150 +GARD:0005786,Orphanet,803,ORPHA:803,37,SQSTM1,"[A170, autophagy receptor p62, p60, p62, p62B]",sequestosome 1,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:22084127, PMID:23303844, PMID:24085347, PMID:24138988]",601530,ENSG00000161011,,Q13501,Q13501,HGNC:11280 +GARD:0005786,Orphanet,803,ORPHA:803,37,NEK1,"[KIAA1901, NY-REN-55]",NIMA related kinase 1,gene with protein product,4q33,Major susceptibility factor in,Assessed,[PMID:26945885],604588,ENSG00000137601,2114,Q96PY6,Q96PY6,HGNC:7744 +GARD:0005786,Orphanet,803,ORPHA:803,37,PRPH,[PRPH1],peripherin,gene with protein product,12q13.12,Major susceptibility factor in,Assessed,,170710,ENSG00000135406,,P41219,P41219,HGNC:9461 +GARD:0005786,Orphanet,803,ORPHA:803,37,CCNF,"[FBX1, FBXO1]",cyclin F,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27080313],600227,ENSG00000162063,,P41002,P41002,HGNC:1591 +GARD:0005787,Orphanet,64,ORPHA:64,1,ALMS1,[KIAA0328],ALMS1 centrosome and basal body associated protein,gene with protein product,2p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301444],606844,ENSG00000116127,,Q8TCU4,Q8TCU4,HGNC:428 +GARD:0005802,Orphanet,90652,ORPHA:90652,1,FLNA,"[ABP-280, actin binding protein 280, alpha filamin]",filamin A,gene with protein product,Xq28,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301567],300017,ENSG00000196924,,P21333,P21333,HGNC:3754 +GARD:0005816,Orphanet,250923,ORPHA:250923,3,TRIM44,"[DIPB, MC7]",tripartite motif containing 44,gene with protein product,11p13,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26394807],612298,ENSG00000166326,,Q96DX7,Q96DX7,HGNC:19016 +GARD:0005816,Orphanet,250923,ORPHA:250923,3,PAX6,"[AN, Aniridia 1, Aniridia 2, D11S812E, WAGR, aniridia, keratitis]",paired box 6,gene with protein product,11p13,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301534, PMID:9138149]",607108,ENSG00000007372,,P26367,P26367,HGNC:8620 +GARD:0005816,Orphanet,250923,ORPHA:250923,3,FOXC1,"[ARA, FREAC3, IGDA, IHG1]",forkhead box C1,gene with protein product,6p25.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19279310, PMID:27124303]",601090,ENSG00000054598,,Q12948,Q12948,HGNC:3800 +GARD:0005833,Orphanet,87,ORPHA:87,1,FGFR2,"[CD332, CEK3, Crouzon syndrome, ECT1, K-SAM, Pfeiffer syndrome, TK14, TK25]",fibroblast growth factor receptor 2,gene with protein product,10q26.13,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:15282208, PMID:20301628, PMID:23593218]",176943,ENSG00000066468,1809,P21802,P21802,HGNC:3689 +GARD:0005835,Orphanet,1114,ORPHA:1114,4,DLL4,,delta like canonical Notch ligand 4,gene with protein product,15q15.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26299364],605185,ENSG00000128917,,Q9NR61,Q9NR61,HGNC:2910 +GARD:0005835,Orphanet,1114,ORPHA:1114,4,ITGB4,[CD104],integrin subunit beta 4,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:31184804],147557,ENSG00000132470,2458,P16144,P16144,HGNC:6158 +GARD:0005835,Orphanet,1114,ORPHA:1114,4,PLEC,"[PCN, PLTN]",plectin,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:31184804],601282,ENSG00000178209,,Q15149,Q15149,HGNC:9069 +GARD:0005835,Orphanet,1114,ORPHA:1114,4,BMS1,[KIAA0187],BMS1 ribosome biogenesis factor,gene with protein product,10q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:23785305],611448,ENSG00000165733,,Q14692,Q14692,HGNC:23505 +GARD:0005836,Orphanet,88,ORPHA:88,5,IFNG,,interferon gamma,gene with protein product,12q15,Major susceptibility factor in,Assessed,[PMID:15327519],147570,ENSG00000111537,,P01579,P01579,HGNC:5438 +GARD:0005836,Orphanet,88,ORPHA:88,5,TERT,"[EST2, TCS1, TP2, TRT, hEST2]",telomerase reverse transcriptase,gene with protein product,5p15.33,Major susceptibility factor in,Assessed,"[PMID:16627250, PMID:16990594]",187270,ENSG00000164362,,O14746,O14746,HGNC:11730 +GARD:0005836,Orphanet,88,ORPHA:88,5,PRF1,"[HPLH2, P1, PFP, Perforin, perforin 1 (preforming protein)]",perforin 1,gene with protein product,10q22.1,Major susceptibility factor in,Assessed,[PMID:17311987],170280,ENSG00000180644,3100,P14222,,HGNC:9360 +GARD:0005836,Orphanet,88,ORPHA:88,5,SBDS,"[CGI-97, FLJ10917, SDO1, SDS, SWDS]",SBDS ribosome maturation factor,gene with protein product,7q11.21,Major susceptibility factor in,Assessed,[PMID:17478638],607444,ENSG00000126524,,Q9Y3A5,,HGNC:19440 +GARD:0005836,Orphanet,88,ORPHA:88,5,TERC,"[SCARNA19, TR, TRC3, hTR, small Cajal body-specific RNA 19]",telomerase RNA component,Non-coding RNA,3q26.2,Major susceptibility factor in,Assessed,[PMID:12090986],602322,ENSG00000270141,,,,HGNC:11727 +GARD:0005840,Orphanet,90,ORPHA:90,1,ARG1,,arginase 1,gene with protein product,6q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301338],608313,ENSG00000118520,1244,P05089,P05089,HGNC:663 +GARD:0005843,Orphanet,23,ORPHA:23,1,ASL,[ASAL],argininosuccinate lyase,gene with protein product,7q11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12384776, PMID:21290785]",608310,ENSG00000126522,,P04424,P04424,HGNC:746 +GARD:0005854,Orphanet,93,ORPHA:93,1,AGA,"[ASRG, N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase, glycosylasparaginase]",aspartylglucosaminidase,gene with protein product,4q34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11309371],613228,ENSG00000038002,,P20933,P20933,HGNC:318 +GARD:0005860,Orphanet,251589,ORPHA:251589,1,IDH2,,isocitrate dehydrogenase (NADP(+)) 2,gene with protein product,15q26.1,Biomarker tested in,Assessed,"[PMID:19228619, PMID:19554337, PMID:20714900, PMID:21075857, PMID:23109653, PMID:24149775, PMID:24993250]",147650,ENSG00000182054,2885,P48735,P48735,HGNC:5383 +GARD:0005862,Orphanet,100,ORPHA:100,1,ATM,"[TEL1, TEL1, telomere maintenance 1, homolog (S. cerevisiae), TELO1]",ATM serine/threonine kinase,gene with protein product,11q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301790],607585,ENSG00000149311,1934,Q13315,Q13315,HGNC:795 +GARD:0005864,Orphanet,847,ORPHA:847,1,ATRX,"[RAD54 homolog (S. cerevisiae), XH2, XNP]",ATRX chromatin remodeler,gene with protein product,Xq21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301622],300032,ENSG00000085224,,P46100,P46100,HGNC:886 +GARD:0005865,Orphanet,99103,ORPHA:99103,8,CITED2,[MRG1],Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2,gene with protein product,6q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16287139],602937,ENSG00000164442,,Q99967,Q99967,HGNC:1987 +GARD:0005865,Orphanet,99103,ORPHA:99103,8,ACTC1,[CMD1R],actin alpha cardiac muscle 1,gene with protein product,15q14,Disease-causing germline mutation(s) in,Assessed,[PMID:17947298],102540,ENSG00000159251,,P68032,P68032,HGNC:143 +GARD:0005865,Orphanet,99103,ORPHA:99103,8,GATA4,,GATA binding protein 4,gene with protein product,8p23.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:12845333, PMID:15810002, PMID:20347099]",600576,ENSG00000136574,,P43694,P43694,HGNC:4173 +GARD:0005865,Orphanet,99103,ORPHA:99103,8,TLL1,,tolloid like 1,gene with protein product,4q32.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18830233],606742,ENSG00000038295,,O43897,O43897,HGNC:11843 +GARD:0005865,Orphanet,99103,ORPHA:99103,8,GATA6,,GATA binding protein 6,gene with protein product,18q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20631719],601656,ENSG00000141448,,Q92908,Q92908,HGNC:4174 +GARD:0005865,Orphanet,99103,ORPHA:99103,8,MYH6,"[cardiomyopathy, hypertrophic 1]",myosin heavy chain 6,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:15735645],160710,ENSG00000197616,,P13533,P13533,HGNC:7576 +GARD:0005865,Orphanet,99103,ORPHA:99103,8,TBX20,,T-box transcription factor 20,gene with protein product,7p14.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19762328],606061,ENSG00000164532,,Q9UMR3,,HGNC:11598 +GARD:0005865,Orphanet,99103,ORPHA:99103,8,TBX20,,T-box transcription factor 20,gene with protein product,7p14.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:19762328],606061,ENSG00000164532,,Q9UMR3,,HGNC:11598 +GARD:0005865,Orphanet,99103,ORPHA:99103,8,NKX2-5,"[CSX1, NKX2.5, NKX4-1, tinman (Drosophila) homolog, tinman paralog (Drosophila)]",NK2 homeobox 5,gene with protein product,5q34,Disease-causing germline mutation(s) in,Assessed,"[PMID:15810002, PMID:21285290]",600584,ENSG00000183072,,P52952,P52952,HGNC:2488 +GARD:0005887,Orphanet,109,ORPHA:109,1,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301661],601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0005890,Orphanet,111,ORPHA:111,1,TAFAZZIN,"[BTHS, Barth syndrome, G4.5, TAZ1, XAP-2, transcriptional coactivator with PDZ-binding motif]","tafazzin, phospholipid-lysophospholipid transacylase",gene with protein product,Xq28,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23843353],300394,ENSG00000102125,,Q16635,Q16635,HGNC:11577 +GARD:0005897,Orphanet,228346,ORPHA:228346,1,CLN3,"[BTN1, JNCL, juvenile neuronal ceroid lipofuscinosis]","CLN3 lysosomal/endosomal transmembrane protein, battenin",gene with protein product,16p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21990111],607042,ENSG00000188603,,Q13286,,HGNC:2074 +GARD:0005899,Orphanet,115,ORPHA:115,1,FBN2,"[DA9, fibrillin 5]",fibrillin 2,gene with protein product,5q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301560],612570,ENSG00000138829,,P35556,P35556,HGNC:3604 +GARD:0005900,Orphanet,98895,ORPHA:98895,1,DMD,"[BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, muscular dystrophy, Duchenne and Becker types]",dystrophin,gene with protein product,Xp21.2-p21.1,Disease-causing germline mutation(s) in,Assessed,,300377,ENSG00000198947,,P11532,P11532,HGNC:2928 +GARD:0005926,Orphanet,179,ORPHA:179,1,HLA-A,,"major histocompatibility complex, class I, A",gene with protein product,6p22.1,Major susceptibility factor in,Assessed,[PMID:24474930],142800,ENSG00000206503,,P04439,P04439,HGNC:4931 +GARD:0005940,Orphanet,1059,ORPHA:1059,1,TEK,"[CD202b, TIE-2, TIE2, VMCM1, angiopoietin-1 receptor]",TEK receptor tyrosine kinase,gene with protein product,9p21.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:27519652],600221,ENSG00000120156,1842,Q02763,Q02763,HGNC:11724 +GARD:0005950,Orphanet,1270,ORPHA:1270,1,EMG1,"[C2F, Grcc2f, NEP1]",EMG1 N1-specific pseudouridine methyltransferase,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:19463982],611531,ENSG00000126749,,Q92979,Q92979,HGNC:16912 +GARD:0005968,Orphanet,131,ORPHA:131,3,CALR,"[CRT, FLJ26680, RO, SSA, Sicca syndrome antigen A (autoantigen Ro; calreticulin), autoantigen Ro, cC1qR]",calreticulin,gene with protein product,19p13.13,Disease-causing somatic mutation(s) in,Assessed,[PMID:28483676],109091,ENSG00000179218,,P27797,P27797,HGNC:1455 +GARD:0005968,Orphanet,131,ORPHA:131,3,F5,,coagulation factor V,gene with protein product,1q24.2,Candidate gene tested in,Not yet assessed,"[PMID:24755609, PMID:26238013]",612309,ENSG00000198734,2606,P12259,P12259,HGNC:3542 +GARD:0005968,Orphanet,131,ORPHA:131,3,JAK2,[JTK10],Janus kinase 2,gene with protein product,9p24.1,Candidate gene tested in,Not yet assessed,[PMID:26557140],147796,ENSG00000096968,2048,O60674,O60674,HGNC:6192 +GARD:0005972,Orphanet,703,ORPHA:703,2,HLA-DQB1,"[CELIAC1, IDDM1]","major histocompatibility complex, class II, DQ beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Not yet assessed,"[PMID:23806156, PMID:8710911]",604305,ENSG00000179344,,P01920,P01920,HGNC:4944 +GARD:0005972,Orphanet,703,ORPHA:703,2,HLA-DRB1,,"major histocompatibility complex, class II, DR beta 1",gene with protein product,6p21.32,Candidate gene tested in,Not yet assessed,"[PMID:23806156, PMID:8710911]",142857,ENSG00000196126,,P01911,P04229,HGNC:4948 +GARD:0005973,Orphanet,543,ORPHA:543,1,MYC,"[MYCC, bHLHe39, c-Myc]","MYC proto-oncogene, bHLH transcription factor",gene with protein product,8q24.21,Part of a fusion gene in,Assessed,,190080,ENSG00000136997,,P01106,P01106,HGNC:7553 +GARD:0005978,Orphanet,1308,ORPHA:1308,1,CD96,[TACTILE],CD96 molecule,gene with protein product,3q13.13-q13.2,Candidate gene tested in,Not yet assessed,"[PMID:17847009, PMID:19449408]",606037,ENSG00000153283,,P40200,P40200,HGNC:16892 +GARD:0005993,Orphanet+OMIM,611490,OMIM:611490,1,CLCN7,"[CLC-7, CLC7, ClC-7, OPTA2, PPP1R63, protein phosphatase 1, regulatory subunit 63]",chloride voltage-gated channel 7,gene with protein product,16p13.3,The molecular basis of the disorder is known,Unknown,,602727,ENSG00000103249,objectId:706,P51798,P51798,HGNC:2025 +GARD:0005994,Orphanet,100093,ORPHA:100093,1,SDHD,"[cybS, small subunit of cytochrome b]",succinate dehydrogenase complex subunit D,gene with protein product,11q23.1,Candidate gene tested in,Not yet assessed,[PMID:12007193],602690,ENSG00000204370,,O14521,O14521,HGNC:10683 +GARD:0006002,Orphanet,53035,ORPHA:53035,1,PKHD1,"[ARPKD, FCYT, FPC, fibrocystin, fibrocystin/polyductin complex, polyductin, tigmin]",PKHD1 ciliary IPT domain containing fibrocystin/polyductin,gene with protein product,6p12.3-p12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:24710345, PMID:26385851]",606702,ENSG00000170927,,P08F94,,HGNC:9016 +GARD:0006003,Orphanet,65759,ORPHA:65759,2,MEGF8,"[FLJ22365, HBV pre s2 binding protein 1, SBP1]",multiple EGF like domains 8,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23063620],604267,ENSG00000105429,,Q7Z7M0,,HGNC:3233 +GARD:0006003,Orphanet,65759,ORPHA:65759,2,RAB23,,"RAB23, member RAS oncogene family",gene with protein product,6p12.1-p11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:17503333, PMID:21412941]",606144,ENSG00000112210,,Q9ULC3,Q9ULC3,HGNC:14263 +GARD:0006007,Orphanet,3027,ORPHA:3027,2,VANGL1,[STB2],VANGL planar cell polarity protein 1,gene with protein product,1p13.1,Major susceptibility factor in,Assessed,[PMID:17409324],610132,ENSG00000173218,,Q8TAA9,Q8TAA9,HGNC:15512 +GARD:0006007,Orphanet,3027,ORPHA:3027,2,FUZ,"[CPLANE3, FLJ22688, Fy]",fuzzy planar cell polarity protein,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21840926],610622,ENSG00000010361,,Q9BT04,Q9BT04,HGNC:26219 +GARD:0006011,Orphanet,98889,ORPHA:98889,3,ADGRG1,"[TM7LN4, TM7XN1]",adhesion G protein-coupled receptor G1,gene with protein product,16q21,Disease-causing germline mutation(s) in,Assessed,[PMID:24531968],604110,ENSG00000205336,186,Q9Y653,,HGNC:4512 +GARD:0006011,Orphanet,98889,ORPHA:98889,3,PI4KA,"[PI4K-ALPHA, phosphatidylinositol 4-kinase III alpha, phosphatidylinositol 4-kinase IIIa, pi4K230]",phosphatidylinositol 4-kinase alpha,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:25855803],600286,ENSG00000241973,2148,P42356,P42356,HGNC:8983 +GARD:0006011,Orphanet,98889,ORPHA:98889,3,SRPX2,[SRPUL],sushi repeat containing protein X-linked 2,gene with protein product,Xq22.1,Candidate gene tested in,Not yet assessed,[PMID:16497722],300642,ENSG00000102359,,O60687,,HGNC:30668 +GARD:0006014,Orphanet,597,ORPHA:597,1,RYR1,"[PPP1R137, RYR, protein phosphatase 1, regulatory subunit 137]",ryanodine receptor 1,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301565],180901,ENSG00000196218,747,P21817,P21817,HGNC:10483 +GARD:0006026,Orphanet,1393,ORPHA:1393,1,SNRPB,"[COD, Sm-B/B', SmB/SmB', snRNP-B]",small nuclear ribonucleoprotein polypeptides B and B1,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,[PMID:25047197],182282,ENSG00000125835,,P14678,P14678,HGNC:11153 +GARD:0006027,Orphanet,1466,ORPHA:1466,4,ERCC6,"[ARMD5, CSB, Cockayne syndrome B protein, RAD26]","ERCC excision repair 6, chromatin remodeling factor",gene with protein product,10q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:20301516],609413,ENSG00000225830,,Q03468,Q03468,HGNC:3438 +GARD:0006027,Orphanet,1466,ORPHA:1466,4,ERCC2,"[EM9, MAG, MGC102762, MGC126218, MGC126219, TFIIH, TFIIH basal transcription factor complex helicase XPB subunit, excision repair cross-complementing rodent repair deficiency, complementation group 2 protein]","ERCC excision repair 2, TFIIH core complex helicase subunit",gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:11443545],126340,ENSG00000104884,,P18074,P18074,HGNC:3434 +GARD:0006027,Orphanet,1466,ORPHA:1466,4,ERCC5,[Cockayne syndrome],"ERCC excision repair 5, endonuclease",gene with protein product,13q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24700531],133530,ENSG00000134899,,P28715,P28715,HGNC:3437 +GARD:0006027,Orphanet,1466,ORPHA:1466,4,ERCC1,[RAD10],"ERCC excision repair 1, endonuclease non-catalytic subunit",gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:17273966],126380,ENSG00000012061,,P07992,P07992,HGNC:3433 +GARD:0006035,Orphanet,167,ORPHA:167,1,LYST,"[CHS, Mauve]",lysosomal trafficking regulator,gene with protein product,1q42.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20368792],606897,ENSG00000143669,,Q99698,,HGNC:1968 +GARD:0006036,Orphanet,184,ORPHA:184,1,SH3BP2,"[CRBM, RES4-23]",SH3 domain binding protein 2,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,,602104,ENSG00000087266,,P78314,P78314,HGNC:10825 +GARD:0006039,Orphanet,139,ORPHA:139,1,NSDHL,"[H105e3, SDR31E1, XAP104, short chain dehydrogenase/reductase family 31E, member 1]",NAD(P) dependent steroid dehydrogenase-like,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,"[PMID:10710235, PMID:11907515]",300275,ENSG00000147383,,Q15738,Q15738,HGNC:13398 +GARD:0006048,Orphanet+OMIM,600668,OMIM:600668,1,CCAL1,,Chondrocalcinosis 1,unknown,8q,The disease phenotype itself was mapped,Unknown,,600668,,,,,GeneID:882 +GARD:0006049,Orphanet,309789,ORPHA:309789,1,PEX7,"[PTS2R, RD, Refsum disease]",peroxisomal biogenesis factor 7,gene with protein product,6q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21990100],601757,ENSG00000112357,,O00628,,HGNC:8860 +GARD:0006055,Orphanet,55880,ORPHA:55880,1,EXT1,"[Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, ttv]",exostosin glycosyltransferase 1,gene with protein product,8q24.11,Candidate gene tested in,Not yet assessed,,608177,ENSG00000182197,,Q16394,Q16394,HGNC:3512 +GARD:0006061,Orphanet,180,ORPHA:180,1,CHM,"[REP-1, Rab escort protein 1]",CHM Rab escort protein,gene with protein product,Xq21.2,Disease-causing germline mutation(s) in,Assessed,,300390,ENSG00000188419,,P24386,P24386,HGNC:1940 +GARD:0006064,Orphanet,319303,ORPHA:319303,1,HNF1A,"[HNF1, HNF1a, LFB1]",HNF1 homeobox A,gene with protein product,12q24.31,Biomarker tested in,Not yet assessed,"[PMID:15649945, PMID:8620471]",142410,ENSG00000135100,,P20823,P20823,HGNC:11621 +GARD:0006082,Orphanet,1606,ORPHA:1606,13,SKI,,SKI proto-oncogene,gene with protein product,1p36.33-p36.32,Role in the phenotype of,Assessed,"[PMID:12376748, PMID:22766398]",164780,ENSG00000157933,,P12755,P12755,HGNC:10896 +GARD:0006082,Orphanet,1606,ORPHA:1606,13,UBE4B,"[E4, KIAA0684, UBOX3, UFD2]",ubiquitination factor E4B,gene with protein product,1p36.22,Role in the phenotype of,Assessed,[PMID:24454898],613565,ENSG00000130939,,O95155,,HGNC:12500 +GARD:0006082,Orphanet,1606,ORPHA:1606,13,PRDM16,"[KIAA1675, KMT8F, MDS1/EVI1-like, MEL1, MGC166915, PFM13, PR-domain zinc finger protein 16, Transcription factor MEL1, transcription factor MEL1]",PR/SET domain 16,gene with protein product,1p36.32,Role in the phenotype of,Assessed,[PMID:23768516],605557,ENSG00000142611,,Q9HAZ2,Q9HAZ2,HGNC:14000 +GARD:0006082,Orphanet,1606,ORPHA:1606,13,RERE,"[ARG, ARP, ATN2, DNB1, KIAA0458, atrophin 2]",arginine-glutamic acid dipeptide repeats,gene with protein product,1p36.23,Role in the phenotype of,Assessed,[PMID:27087320],605226,ENSG00000142599,,Q9P2R6,Q9P2R6,HGNC:9965 +GARD:0006082,Orphanet,1606,ORPHA:1606,13,PDPN,"[GP40, Gp38, PA2.26, T1A-2, aggrus, lung type I cell membrane associated glycoprotein]",podoplanin,gene with protein product,1p36.21,Role in the phenotype of,Assessed,[PMID:26345236],608863,ENSG00000162493,,Q86YL7,,HGNC:29602 +GARD:0006082,Orphanet,1606,ORPHA:1606,13,MMP23B,"[MIFR, MIFR-1, femalysin, matrix metalloproteinase 22, matrix metalloproteinase in the female reproductive tract]",matrix metallopeptidase 23B,gene with protein product,1p36.33,Role in the phenotype of,Assessed,[PMID:26345236],603321,ENSG00000189409,1645,O75900,,HGNC:7171 +GARD:0006082,Orphanet,1606,ORPHA:1606,13,PRKCZ,[PKC2],protein kinase C zeta,gene with protein product,1p36.33,Role in the phenotype of,Assessed,[PMID:24454898],176982,ENSG00000067606,1491,Q05513,,HGNC:9412 +GARD:0006082,Orphanet,1606,ORPHA:1606,13,CASZ1,"[FLJ20321, SRG, ZNF693, castor, cst, survival related gene, zinc finger protein 693]",castor zinc finger 1,gene with protein product,1p36.22,Role in the phenotype of,Assessed,[PMID:24454898],609895,ENSG00000130940,,Q86V15,,HGNC:26002 +GARD:0006082,Orphanet,1606,ORPHA:1606,13,KCNAB2,"[AKR6A5, HKvbeta2.1, HKvbeta2.2, KCNA2B]",potassium voltage-gated channel subfamily A regulatory beta subunit 2,gene with protein product,1p36.31,Role in the phenotype of,Assessed,"[PMID:17633087, PMID:22766398]",601142,ENSG00000069424,,Q13303,Q13303,HGNC:6229 +GARD:0006082,Orphanet,1606,ORPHA:1606,13,GABRD,"[GABA(A) receptor, delta]",gamma-aminobutyric acid type A receptor subunit delta,gene with protein product,1p36.33,Role in the phenotype of,Assessed,[PMID:22766398],137163,ENSG00000187730,416,O14764,,HGNC:4084 +GARD:0006082,Orphanet,1606,ORPHA:1606,13,SPEN,"[KIAA0929, MINT, RBM15C, SHARP]",spen family transcriptional repressor,gene with protein product,1p36.21-p36.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:33596411],613484,ENSG00000065526,,Q96T58,,HGNC:17575 +GARD:0006082,Orphanet,1606,ORPHA:1606,13,SPEN,"[KIAA0929, MINT, RBM15C, SHARP]",spen family transcriptional repressor,gene with protein product,1p36.21-p36.13,Role in the phenotype of,Assessed,[PMID:26345236],613484,ENSG00000065526,,Q96T58,,HGNC:17575 +GARD:0006082,Orphanet,1606,ORPHA:1606,13,LUZP1,[LUZP],leucine zipper protein 1,gene with protein product,1p36.12,Role in the phenotype of,Assessed,[PMID:26345236],601422,ENSG00000169641,,Q86V48,,HGNC:14985 +GARD:0006082,Orphanet,1606,ORPHA:1606,13,HSPG2,"[PRCAN, endorepellin, perlecan, perlecan proteoglycan]",heparan sulfate proteoglycan 2,gene with protein product,1p36.12,Role in the phenotype of,Assessed,[PMID:26345236],142461,ENSG00000142798,,P98160,P98160,HGNC:5273 +GARD:0006100,Orphanet,379,ORPHA:379,6,CYBC1,"[Eros, FLJ90469, MGC4368]",cytochrome b-245 chaperone 1,gene with protein product,17q25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30361506],618334,ENSG00000178927,,Q9BQA9,Q9BQA9,HGNC:28672 +GARD:0006100,Orphanet,379,ORPHA:379,6,CYBA,"[flavocytochrome b-558 alpha polypeptide, p22-PHOX]",cytochrome b-245 alpha chain,gene with protein product,16q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22876374],608508,ENSG00000051523,,P13498,P13498,HGNC:2577 +GARD:0006100,Orphanet,379,ORPHA:379,6,NCF1,"[NADPH oxidase organizer 2, NCF1A, NOXO2, SH3PXD1A, chronic granulomatous disease, autosomal 1, p47phox]",neutrophil cytosolic factor 1,gene with protein product,7q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:22876374],608512,ENSG00000158517,,P14598,P14598,HGNC:7660 +GARD:0006100,Orphanet,379,ORPHA:379,6,NCF2,"[NADPH oxidase activator 2, NOXA2, chronic granulomatous disease, autosomal 2, p67phox]",neutrophil cytosolic factor 2,gene with protein product,1q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22876374],608515,ENSG00000116701,,P19878,P19878,HGNC:7661 +GARD:0006100,Orphanet,379,ORPHA:379,6,CYBB,"[GP91-PHOX, NADPH oxidase 2, NOX2]",cytochrome b-245 beta chain,gene with protein product,Xp21.1-p11.4,Disease-causing germline mutation(s) in,Assessed,[PMID:22876374],300481,ENSG00000165168,3002,P04839,P04839,HGNC:2578 +GARD:0006100,Orphanet,379,ORPHA:379,6,NCF4,"[SH3PXD4, neutrophil NADPH oxidase factor 4, p40phox]",neutrophil cytosolic factor 4,gene with protein product,22q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22876374],601488,ENSG00000100365,,Q15080,Q15080,HGNC:7662 +GARD:0006104,Orphanet,67038,ORPHA:67038,10,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Disease-causing somatic mutation(s) in,Assessed,"[PMID:16737921, PMID:16938579, PMID:17920683, PMID:21205967, PMID:21435757]",191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0006104,Orphanet,67038,ORPHA:67038,10,IKZF3,[Aiolos],IKAROS family zinc finger 3,gene with protein product,17q12-q21.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:26466571],606221,ENSG00000161405,,Q9UKT9,Q9UKT9,HGNC:13178 +GARD:0006104,Orphanet,67038,ORPHA:67038,10,ATM,"[TEL1, TEL1, telomere maintenance 1, homolog (S. cerevisiae), TELO1]",ATM serine/threonine kinase,gene with protein product,11q22.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:10397742],607585,ENSG00000149311,1934,Q13315,Q13315,HGNC:795 +GARD:0006104,Orphanet,67038,ORPHA:67038,10,IGHG1,,immunoglobulin heavy constant gamma 1 (G1m marker),gene with protein product,14q32.33,Part of a fusion gene in,Assessed,,147100,ENSG00000211896,,P01857,P01857,HGNC:5525 +GARD:0006104,Orphanet,67038,ORPHA:67038,10,IGHV3-21,,immunoglobulin heavy variable 3-21,gene with protein product,14q32.33,Biomarker tested in,Assessed,"[PMID:21372840, PMID:22464020, PMID:22875913, PMID:23637131]",,ENSG00000211947,,A0A0B4J1V1,,HGNC:5586 +GARD:0006104,Orphanet,67038,ORPHA:67038,10,P2RX7,"[MGC20089, P2X7]",purinergic receptor P2X 7,gene with protein product,12q24.31,Biomarker tested in,Assessed,[PMID:12493261],602566,ENSG00000089041,484,Q99572,Q99572,HGNC:8537 +GARD:0006104,Orphanet,67038,ORPHA:67038,10,CCND1,"[B-cell CLL/lymphoma 1, G1/S-specific cyclin D1, U21B31, parathyroid adenomatosis 1]",cyclin D1,gene with protein product,11q13.3,Part of a fusion gene in,Assessed,,168461,ENSG00000110092,,P24385,P24385,HGNC:1582 +GARD:0006104,Orphanet,67038,ORPHA:67038,10,ARL11,"[ADP-ribosylation factor-like tumor suppressor gene 1, ARLTS1, FLJ33930]",ADP ribosylation factor like GTPase 11,gene with protein product,13q14.2,Major susceptibility factor in,Assessed,[PMID:15843669],609351,ENSG00000152213,,Q969Q4,,HGNC:24046 +GARD:0006104,Orphanet,67038,ORPHA:67038,10,POT1,"[DKFZp586D211, hPot1]",protection of telomeres 1,gene with protein product,7q31.33,Disease-causing somatic mutation(s) in,Not yet assessed,[PMID:23502782],606478,ENSG00000128513,,Q9NUX5,Q9NUX5,HGNC:17284 +GARD:0006104,Orphanet,67038,ORPHA:67038,10,RPS15,"[40S ribosomal protein S15, MGC111130, RIG, S15, homolog of rat insulinoma, insulinoma protein]",ribosomal protein S15,gene with protein product,19p13.3,Disease-causing somatic mutation(s) in,Assessed,"[PMID:26466571, PMID:26675346]",180535,ENSG00000115268,,P62841,P62841,HGNC:10388 +GARD:0006105,Orphanet,521,ORPHA:521,3,ABL1,"[JTK7, c-ABL, p150]","ABL proto-oncogene 1, non-receptor tyrosine kinase",gene with protein product,9q34.12,Part of a fusion gene in,Assessed,,189980,ENSG00000097007,1923,P00519,P00519,HGNC:76 +GARD:0006105,Orphanet,521,ORPHA:521,3,RUNX1,"[AMLCR1, PEBP2A2, aml1 oncogene]",RUNX family transcription factor 1,gene with protein product,21q22.12,Biomarker tested in,Assessed,[PMID:22318203],151385,ENSG00000159216,,Q01196,Q01196,HGNC:10471 +GARD:0006105,Orphanet,521,ORPHA:521,3,BCR,"[ALL, CML, D22S662, PHL]",BCR activator of RhoGEF and GTPase,gene with protein product,22q11.23,Part of a fusion gene in,Assessed,,151410,ENSG00000186716,2755,P11274,P11274,HGNC:1014 +GARD:0006118,Orphanet,1452,ORPHA:1452,1,RUNX2,"[AML3, PEBP2A1, PEBP2aA1]",RUNX family transcription factor 2,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,,600211,ENSG00000124813,,Q13950,Q13950,HGNC:10472 +GARD:0006121,Orphanet,190,ORPHA:190,1,NDP,[norrin],norrin cystine knot growth factor NDP,gene with protein product,Xp11.3,Candidate gene tested in,Not yet assessed,"[PMID:10484772, PMID:20301506]",300658,ENSG00000124479,,Q00604,Q00604,HGNC:7678 +GARD:0006123,Orphanet,192,ORPHA:192,1,RPS6KA3,"[HU-3, RSK, RSK2]",ribosomal protein S6 kinase A3,gene with protein product,Xp22.12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301520],300075,ENSG00000177189,1528,P51812,P51812,HGNC:10432 +GARD:0006124,Orphanet,1465,ORPHA:1465,11,SOX4,,SRY-box transcription factor 4,gene with protein product,6p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30661722],184430,ENSG00000124766,,Q06945,Q06945,HGNC:11200 +GARD:0006124,Orphanet,1465,ORPHA:1465,11,DPF2,"[BAF45d, SMARCG2, ubi-d4]",double PHD fingers 2,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29429572],601671,ENSG00000133884,,Q92785,Q92785,HGNC:9964 +GARD:0006124,Orphanet,1465,ORPHA:1465,11,SMARCA4,"[ATP-dependent helicase SMARCA4, BAF190, BRG1, BRM/SWI2-related gene 1, FLJ39786, SNF2, SNF2-BETA, SNF2-like 4, SNF2LB, SWI2, brahma protein-like 1, global transcription activator homologous sequence, hSNF2b, homeotic gene regulator, mitotic growth and transcription activator, nuclear protein GRB1, sucrose nonfermenting-like 4]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4",gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23556151],603254,ENSG00000127616,2740,P51532,P51532,HGNC:11100 +GARD:0006124,Orphanet,1465,ORPHA:1465,11,ARID1B,"[6A3-5, BAF250b, DAN15, ELD/OSA1, KIAA1235, SMARCF2, p250R]",AT-rich interaction domain 1B,gene with protein product,6q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23556151],614556,ENSG00000049618,,Q8NFD5,Q8NFD5,HGNC:18040 +GARD:0006124,Orphanet,1465,ORPHA:1465,11,SOX11,[SRY-related HMG-box gene 11],SRY-box transcription factor 11,gene with protein product,2p25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24886874],600898,ENSG00000176887,,P35716,,HGNC:11191 +GARD:0006124,Orphanet,1465,ORPHA:1465,11,SMARCC2,"[BAF170, CRACC2, Rsc8]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2",gene with protein product,12q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30580808],601734,ENSG00000139613,,Q8TAQ2,Q8TAQ2,HGNC:11105 +GARD:0006124,Orphanet,1465,ORPHA:1465,11,SMARCD1,"[BAF60A, CRACD1, Rsc6p]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1",gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:30879640],601735,ENSG00000066117,,Q96GM5,Q96GM5,HGNC:11106 +GARD:0006124,Orphanet,1465,ORPHA:1465,11,ARID2,"[BAF200, DKFZp686G052, FLJ30619, KIAA1557, SMARCF3]",AT-rich interaction domain 2,gene with protein product,12q12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28124119],609539,ENSG00000189079,,Q68CP9,Q68CP9,HGNC:18037 +GARD:0006124,Orphanet,1465,ORPHA:1465,11,ARID1A,"[B120, BAF250, BAF250a, C10rf4, P270]",AT-rich interaction domain 1A,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:23556151],603024,ENSG00000117713,,O14497,O14497,HGNC:11110 +GARD:0006124,Orphanet,1465,ORPHA:1465,11,SMARCE1,[BAF57],"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1",gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:23556151, PMID:23906836, PMID:23929686]",603111,ENSG00000073584,,Q969G3,Q969G3,HGNC:11109 +GARD:0006124,Orphanet,1465,ORPHA:1465,11,SMARCB1,"[BAF47, Ini1, PPP1R144, RDT, SNF5, Sfh1p, Snr1, hSNFS, integrase interactor 1, malignant rhabdoid tumor suppressor, protein phosphatase 1, regulatory subunit 144, sucrose nonfermenting, yeast, homolog-like 1]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1",gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:23556151],601607,ENSG00000099956,,Q12824,Q12824,HGNC:11103 +GARD:0006126,Orphanet,193,ORPHA:193,1,VPS13B,,vacuolar protein sorting 13 homolog B,gene with protein product,8q22.2,Disease-causing germline mutation(s) in,Assessed,,607817,ENSG00000132549,,Q7Z7G8,,HGNC:2183 +GARD:0006140,Orphanet,1572,ORPHA:1572,12,CD19,,CD19 molecule,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,,107265,ENSG00000177455,2764,P15391,P15391,HGNC:1633 +GARD:0006140,Orphanet,1572,ORPHA:1572,12,CD81,"[TAPA-1, TSPAN28]",CD81 molecule,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:21970952],186845,ENSG00000110651,,P60033,P60033,HGNC:1701 +GARD:0006140,Orphanet,1572,ORPHA:1572,12,IRF2BP2,[IRF-2BP2],interferon regulatory factor 2 binding protein 2,gene with protein product,1q42.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:27016798],615332,ENSG00000168264,,Q7Z5L9,Q7Z5L9,HGNC:21729 +GARD:0006140,Orphanet,1572,ORPHA:1572,12,NFKB1,"[KBF1, NF-kB1, NF-kappaB, NFKB-p50, NFkappaB, Nuclear factor NF-kappa-B p105 subunit, p105, p50]",nuclear factor kappa B subunit 1,gene with protein product,4q24,Disease-causing germline mutation(s) in,Assessed,[PMID:26279205],164011,ENSG00000109320,,P19838,P19838,HGNC:7794 +GARD:0006140,Orphanet,1572,ORPHA:1572,12,ICOS,"[AILIM, CD278, activation-inducible lymphocyte immunomediatory molecule]",inducible T cell costimulator,gene with protein product,2q33.2,Disease-causing germline mutation(s) in,Assessed,,604558,ENSG00000163600,2939,Q9Y6W8,Q9Y6W8,HGNC:5351 +GARD:0006140,Orphanet,1572,ORPHA:1572,12,PRKCD,,protein kinase C delta,gene with protein product,3p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23319571],176977,ENSG00000163932,1485,Q05655,Q05655,HGNC:9399 +GARD:0006140,Orphanet,1572,ORPHA:1572,12,CR2,"[C3DR, CD21, Epstein-Barr virus receptor]",complement C3d receptor 2,gene with protein product,1q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22035880],120650,ENSG00000117322,,P20023,P20023,HGNC:2336 +GARD:0006140,Orphanet,1572,ORPHA:1572,12,NFKB2,"[LYT-10, NF-kB2, p105, p49/p100, p52]",nuclear factor kappa B subunit 2,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:24888602, PMID:25237204]",164012,ENSG00000077150,,Q00653,Q00653,HGNC:7795 +GARD:0006140,Orphanet,1572,ORPHA:1572,12,MS4A1,"[B1, Bp35, FMC7, MS4A2]",membrane spanning 4-domains A1,gene with protein product,11q12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20038800, PMID:21970952]",112210,ENSG00000156738,2628,P11836,P11836,HGNC:7315 +GARD:0006140,Orphanet,1572,ORPHA:1572,12,TNFRSF13B,"[CD267, IGAD2, TACI]",TNF receptor superfamily member 13B,gene with protein product,17p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:16007086],604907,ENSG00000240505,1885,O14836,O14836,HGNC:18153 +GARD:0006140,Orphanet,1572,ORPHA:1572,12,TNFSF12,"[APO3L, DR3LG, TWEAK]",TNF superfamily member 12,gene with protein product,17p13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23493554],602695,ENSG00000239697,,O43508,O43508,HGNC:11927 +GARD:0006140,Orphanet,1572,ORPHA:1572,12,TNFSF12,"[APO3L, DR3LG, TWEAK]",TNF superfamily member 12,gene with protein product,17p13.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23493554],602695,ENSG00000239697,,O43508,O43508,HGNC:11927 +GARD:0006140,Orphanet,1572,ORPHA:1572,12,TNFRSF13C,"[BAFFR, CD268]",TNF receptor superfamily member 13C,gene with protein product,22q13.2,Disease-causing germline mutation(s) in,Assessed,,606269,ENSG00000159958,1886,Q96RJ3,Q96RJ3,HGNC:17755 +GARD:0006145,Orphanet+OMIM,120970,OMIM:120970,1,CRX,"[CRD, LCA7, OTX3, orthodenticle homeobox 3]",cone-rod homeobox,gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,602225,ENSG00000105392,,O43186,,HGNC:2383 +GARD:0006148,Orphanet,82,ORPHA:82,1,SERPINC1,"[ATIII, MGC22579, antithrombin (aa 375-432), antithrombin III, coding sequence signal peptide antithrombin part 1, signal peptide antithrombin part 1]",serpin family C member 1,gene with protein product,1q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24684277],107300,ENSG00000117601,2632,P01008,P01008,HGNC:775 +GARD:0006161,Orphanet,2020,ORPHA:2020,8,TPM3,[TRK],tropomyosin 3,gene with protein product,1q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301436],191030,ENSG00000143549,,P06753,P06753,HGNC:12012 +GARD:0006161,Orphanet,2020,ORPHA:2020,8,MYL2,"[CMH10, cardiac ventricular myosin light chain 2]",myosin light chain 2,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,[PMID:23365102],160781,ENSG00000111245,,P10916,P10916,HGNC:7583 +GARD:0006161,Orphanet,2020,ORPHA:2020,8,MAP3K20,"[MLK7, MLTK, MLTKalpha, MLTKbeta, MRK, ZAK, ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium), mixed lineage kinase 7]",mitogen-activated protein kinase kinase kinase 20,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27816943],609479,ENSG00000091436,2289,Q9NYL2,Q9NYL2,HGNC:17797 +GARD:0006161,Orphanet,2020,ORPHA:2020,8,ITGA7,,integrin subunit alpha 7,gene with protein product,12q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23800289],600536,ENSG00000135424,2446,Q13683,Q13683,HGNC:6143 +GARD:0006161,Orphanet,2020,ORPHA:2020,8,SELENON,"[RSS, SELN]",selenoprotein N,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301436],606210,ENSG00000162430,,Q9NZV5,,HGNC:15999 +GARD:0006161,Orphanet,2020,ORPHA:2020,8,ACTA1,"[NEM3, nemaline myopathy type 3]","actin alpha 1, skeletal muscle",gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301436],102610,ENSG00000143632,,P68133,P68133,HGNC:129 +GARD:0006161,Orphanet,2020,ORPHA:2020,8,TPM2,"[DA1, NEM4, nemaline myopathy type 4]",tropomyosin 2,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22832343],190990,ENSG00000198467,,P07951,P07951,HGNC:12011 +GARD:0006161,Orphanet,2020,ORPHA:2020,8,HACD1,"[CAP, Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1, cementum attachment protein]",3-hydroxyacyl-CoA dehydratase 1,gene with protein product,10p12.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23933735],610467,ENSG00000165996,,B0YJ81,B0YJ81,HGNC:9639 +GARD:0006168,Orphanet+OMIM,263200,OMIM:263200,1,PKHD1,"[ARPKD, FCYT, FPC, fibrocystin, fibrocystin/polyductin complex, polyductin, tigmin]",PKHD1 ciliary IPT domain containing fibrocystin/polyductin,gene with protein product,6p12.3-p12.2,The molecular basis of the disorder is known,Unknown,,606702,ENSG00000170927,,P08F94,,HGNC:9016 +GARD:0006169,Orphanet,95159,ORPHA:95159,1,UROD,,uroporphyrinogen decarboxylase,gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17240319, PMID:21668429, PMID:24175354]",613521,ENSG00000126088,,P06132,P06132,HGNC:12591 +GARD:0006176,Orphanet+OMIM,160800,OMIM:160800,1,CLCN1,"[CLC1, ClC-1, Thomsen disease, autosomal dominant]",chloride voltage-gated channel 1,gene with protein product,7q34,The molecular basis of the disorder is known,Unknown,,118425,ENSG00000188037,objectId:698,P35523,P35523,HGNC:2019 +GARD:0006189,Orphanet,35173,ORPHA:35173,1,EBP,"[3-beta-hydroxysteroid-delta-8,delta-7-isomerase, CHO2, CPX, CPXD, Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome), sterol 8-isomerase]",EBP cholestenol delta-isomerase,gene with protein product,Xp11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21634086],300205,ENSG00000147155,,Q15125,Q15125,HGNC:3133 +GARD:0006196,Orphanet,293603,ORPHA:293603,1,SLC4A11,"[BTR1, FECD4, NaBC1, dJ794I6.2]",solute carrier family 4 member 11,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:16767101, PMID:24351571]",610206,ENSG00000088836,913,Q8NBS3,,HGNC:16438 +GARD:0006202,Orphanet,201,ORPHA:201,9,SDHC,"[CYB560, cybL, large subunit of cytochrome b, succinate dehydrgenase cytochrome b, succinate dehydrogenase cytochrome b560 subunit]",succinate dehydrogenase complex subunit C,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21979946],602413,ENSG00000143252,,Q99643,Q99643,HGNC:10682 +GARD:0006202,Orphanet,201,ORPHA:201,9,AKT1,"[AKT, PKB, PRKBA, RAC, RAC-alpha, protein kinase B]",AKT serine/threonine kinase 1,gene with protein product,14q32.33,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23246288],164730,ENSG00000142208,1479,P31749,P31749,HGNC:391 +GARD:0006202,Orphanet,201,ORPHA:201,9,SDHB,"[iron-sulfur subunit of complex II, succinate dehydrogenase [ubiquinone] iron-sulfur subunit]",succinate dehydrogenase complex iron sulfur subunit B,gene with protein product,1p36.13,Disease-causing germline mutation(s) in,Assessed,,185470,ENSG00000117118,,P21912,P21912,HGNC:10681 +GARD:0006202,Orphanet,201,ORPHA:201,9,KLLN,[killin],"killin, p53 regulated DNA replication inhibitor",gene with protein product,10q23,Disease-causing germline mutation(s) in,Assessed,[PMID:21177507],612105,ENSG00000227268,,B2CW77,,HGNC:37212 +GARD:0006202,Orphanet,201,ORPHA:201,9,SEC23B,"[CDA-II, CDAII, HEMPAS]","SEC23 homolog B, COPII coat complex component",gene with protein product,20p11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:26522472],610512,ENSG00000101310,,Q15437,Q15437,HGNC:10702 +GARD:0006202,Orphanet,201,ORPHA:201,9,PIK3CA,[PI3K],"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",gene with protein product,3q26.32,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23246288],171834,ENSG00000121879,2153,P42336,P42336,HGNC:8975 +GARD:0006202,Orphanet,201,ORPHA:201,9,USF3,,upstream transcription factor family member 3,gene with protein product,3q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28011713],617568,ENSG00000176542,,Q68DE3,,HGNC:30494 +GARD:0006202,Orphanet,201,ORPHA:201,9,SDHD,"[cybS, small subunit of cytochrome b]",succinate dehydrogenase complex subunit D,gene with protein product,11q23.1,Disease-causing germline mutation(s) in,Assessed,,602690,ENSG00000204370,,O14521,O14521,HGNC:10683 +GARD:0006202,Orphanet,201,ORPHA:201,9,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,,601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0006205,Orphanet,581271,ORPHA:581271,1,TRPA1,,transient receptor potential cation channel subfamily A member 1,gene with protein product,8q21.11,Disease-causing germline mutation(s) in,Assessed,[PMID:28436534],604775,ENSG00000104321,485,O75762,O75762,HGNC:497 +GARD:0006206,Orphanet,207,ORPHA:207,2,FGFR2,"[CD332, CEK3, Crouzon syndrome, ECT1, K-SAM, Pfeiffer syndrome, TK14, TK25]",fibroblast growth factor receptor 2,gene with protein product,10q26.13,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301628],176943,ENSG00000066468,1809,P21802,P21802,HGNC:3689 +GARD:0006206,Orphanet,207,ORPHA:207,2,ERF,"[PE-2, PE2]",ETS2 repressor factor,gene with protein product,19q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23354439],611888,ENSG00000105722,,P50548,P50548,HGNC:3444 +GARD:0006213,Orphanet,281,ORPHA:281,2,CTNND2,"[GT24, NPRAP, neural plakophilin-related arm-repeat protein, neurojungin]",catenin delta 2,gene with protein product,5p15.2,Role in the phenotype of,Assessed,,604275,ENSG00000169862,,Q9UQB3,,HGNC:2516 +GARD:0006213,Orphanet,281,ORPHA:281,2,SEMA5A,[semF],semaphorin 5A,gene with protein product,5p15.31,Candidate gene tested in,Not yet assessed,,609297,ENSG00000112902,,Q13591,Q13591,HGNC:10736 +GARD:0006228,Orphanet,1556,ORPHA:1556,1,ARL6IP6,[MGC33864],ADP ribosylation factor like GTPase 6 interacting protein 6,gene with protein product,2q23.3,Candidate gene tested in,Not yet assessed,[PMID:25957586],616495,ENSG00000177917,,Q8N6S5,Q8N6S5,HGNC:24048 +GARD:0006229,Orphanet,2686,ORPHA:2686,1,ELANE,"[HLE, HNE, NE, PMN Elastase, PMN-E, leukocyte elastase, medullasin, neutrophil elastase, polymorphonuclear leukocyte elastase]","elastase, neutrophil expressed",gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:10581030, PMID:14673143]",130130,ENSG00000197561,2358,P08246,P08246,HGNC:3309 +GARD:0006233,Orphanet,586,ORPHA:586,19,CEACAM6,[CD66c],CEA cell adhesion molecule 6,gene with protein product,19q13.2,Modifying germline mutation in,Assessed,[PMID:20047061],163980,ENSG00000086548,,P40199,,HGNC:1818 +GARD:0006233,Orphanet,586,ORPHA:586,19,SERPINA1,"[A1A, A1AT, AAT, PI1, alpha-1 antitrypsin, alpha-1 proteinase inhibitor, alpha-1-antitrypsin, alpha1AT, anti-elastase, protease inhibitor 1, protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin]",serpin family A member 1,gene with protein product,14q32.13,Modifying germline mutation in,Assessed,[PMID:19738092],107400,ENSG00000197249,,P01009,P01009,HGNC:8941 +GARD:0006233,Orphanet,586,ORPHA:586,19,CLCA4,[CaCC2],chloride channel accessory 4,gene with protein product,1p22.3,Modifying germline mutation in,Assessed,[PMID:23073314],616857,ENSG00000016602,,Q14CN2,Q14CN2,HGNC:2018 +GARD:0006233,Orphanet,586,ORPHA:586,19,EDNRA,"[ET-A, ETA-R, hET-AR]",endothelin receptor type A,gene with protein product,4q31.22-q31.23,Modifying germline mutation in,Assessed,[PMID:20028935],131243,ENSG00000151617,219,P25101,P25101,HGNC:3179 +GARD:0006233,Orphanet,586,ORPHA:586,19,MIF,"[GIF, glycosylation-inhibiting factor, phenylpyruvate tautomerase]",macrophage migration inhibitory factor,gene with protein product,22q11.23,Modifying germline mutation in,Assessed,[PMID:16179637],153620,ENSG00000240972,,P14174,P14174,HGNC:7097 +GARD:0006233,Orphanet,586,ORPHA:586,19,HFE,"[HFE1, HLA-H, high Fe]",homeostatic iron regulator,gene with protein product,6p22.2,Modifying germline mutation in,Assessed,[PMID:30291871],613609,ENSG00000010704,,Q30201,Q30201,HGNC:4886 +GARD:0006233,Orphanet,586,ORPHA:586,19,SLC6A14,,solute carrier family 6 member 14,gene with protein product,Xq23,Modifying germline mutation in,Assessed,[PMID:28756021],300444,ENSG00000268104,937,Q9UN76,Q9UN76,HGNC:11047 +GARD:0006233,Orphanet,586,ORPHA:586,19,HMOX1,"[HO-1, bK286B10]",heme oxygenase 1,gene with protein product,22q12.3,Modifying germline mutation in,Assessed,[PMID:28289476],141250,ENSG00000100292,1441,P09601,P09601,HGNC:5013 +GARD:0006233,Orphanet,586,ORPHA:586,19,CFTR,"[ABC35, ATP-binding cassette sub-family C, member 7, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1]",CF transmembrane conductance regulator,gene with protein product,7q31.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22214395],602421,ENSG00000001626,707,P13569,P13569,HGNC:1884 +GARD:0006233,Orphanet,586,ORPHA:586,19,CEACAM3,[CD66d],CEA cell adhesion molecule 3,gene with protein product,19q13.2,Modifying germline mutation in,Assessed,[PMID:20047061],609142,ENSG00000170956,,P40198,,HGNC:1815 +GARD:0006233,Orphanet,586,ORPHA:586,19,SLC9A3,,solute carrier family 9 member A3,gene with protein product,5p15.33,Modifying germline mutation in,Assessed,[PMID:28756021],182307,ENSG00000066230,950,P48764,P48764,HGNC:11073 +GARD:0006233,Orphanet,586,ORPHA:586,19,SLC11A1,[natural resistance-associated macrophage protein 1],solute carrier family 11 member 1,gene with protein product,2q35,Modifying germline mutation in,Assessed,[PMID:28756021],600266,ENSG00000018280,966,P49279,P49279,HGNC:10907 +GARD:0006233,Orphanet,586,ORPHA:586,19,KCNN4,"[IK, KCa3.1, hIKCa1, hKCa4, hSK4, intermediate conductance calcium-activated potassium channel, small conductance calcium-activated potassium channel 4]",potassium calcium-activated channel subfamily N member 4,gene with protein product,19q13.31,Modifying germline mutation in,Assessed,[PMID:29915289],602754,ENSG00000104783,384,O15554,O15554,HGNC:6293 +GARD:0006233,Orphanet,586,ORPHA:586,19,SLC26A9,[anion transporter/exchanger-9],solute carrier family 26 member 9,gene with protein product,1q32.1,Modifying germline mutation in,Assessed,[PMID:28756021],608481,ENSG00000174502,1103,Q7LBE3,,HGNC:14469 +GARD:0006233,Orphanet,586,ORPHA:586,19,GSTM3,[GST5],glutathione S-transferase mu 3,gene with protein product,1p13.3,Modifying germline mutation in,Assessed,[PMID:28289476],138390,ENSG00000134202,,P21266,,HGNC:4635 +GARD:0006233,Orphanet,586,ORPHA:586,19,TGFB1,"['Diaphyseal dysplasia 1, progressive', CED, Camurati-Engelmann disease, TGFbeta, prepro-transforming growth factor beta-1]",transforming growth factor beta 1,gene with protein product,19q13.2,Modifying germline mutation in,Assessed,[PMID:18424453],190180,ENSG00000105329,,P01137,P01137,HGNC:11766 +GARD:0006233,Orphanet,586,ORPHA:586,19,STX1A,"[HPC-1, p35-1]",syntaxin 1A,gene with protein product,7q11.23,Modifying germline mutation in,Assessed,[PMID:23572023],186590,ENSG00000106089,,Q16623,Q16623,HGNC:11433 +GARD:0006233,Orphanet,586,ORPHA:586,19,DCTN4,,dynactin subunit 4,gene with protein product,5q33.1,Modifying germline mutation in,Assessed,[PMID:22772370],614758,ENSG00000132912,,Q9UJW0,Q9UJW0,HGNC:15518 +GARD:0006233,Orphanet,586,ORPHA:586,19,GCLC,[GCS],glutamate-cysteine ligase catalytic subunit,gene with protein product,6p12.1,Modifying germline mutation in,Assessed,[PMID:16690975],606857,ENSG00000001084,,P48506,P48506,HGNC:4311 +GARD:0006243,Orphanet,218,ORPHA:218,1,ATP2A2,"[SERCA2, calcium pump 2, sarcoplasmic/endoplasmic reticulum calcium ATPase 2]",ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:22909361, PMID:23356892, PMID:23621824]",108740,ENSG00000174437,841,P16615,P16615,HGNC:812 +GARD:0006265,Orphanet,83469,ORPHA:83469,2,WT1,"[AWT1, NPHS4, WAGR, WIT-2]",WT1 transcription factor,gene with protein product,11p13,Part of a fusion gene in,Assessed,,607102,ENSG00000184937,,P19544,P19544,HGNC:12796 +GARD:0006265,Orphanet,83469,ORPHA:83469,2,EWSR1,[EWS],EWS RNA binding protein 1,gene with protein product,22q12.2,Part of a fusion gene in,Assessed,,133450,ENSG00000182944,,Q01844,Q01844,HGNC:3508 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPS19,"[DBA, Diamond-Blackfan anemia, S19, eS19]",ribosomal protein S19,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301769],603474,ENSG00000105372,,P39019,P39019,HGNC:10402 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPS17,"[MGC72007, RPS17L1, RPS17L2, S17]",ribosomal protein S17,gene with protein product,15q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301769],180472,ENSG00000182774,,P08708,P08708,HGNC:10397 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPL35A,"[GIG33, L35A, eL33]",ribosomal protein L35a,gene with protein product,3q29,Disease-causing germline mutation(s) in,Assessed,[PMID:20301769],180468,ENSG00000182899,,P18077,P18077,HGNC:10345 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPL18,"[60S ribosomal protein L18, L18]",ribosomal protein L18,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:28280134],604179,ENSG00000063177,,Q07020,Q07020,HGNC:10310 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPL27,"[60S ribosomal protein L27, L27]",ribosomal protein L27,gene with protein product,17q21.31,Candidate gene tested in,Not yet assessed,[PMID:25424902],607526,ENSG00000131469,,P61353,P61353,HGNC:10328 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPL31,[L31],ribosomal protein L31,gene with protein product,2q11.2,Candidate gene tested in,Not yet assessed,[PMID:25042156],617415,ENSG00000071082,,P62899,P62899,HGNC:10334 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPL15,"[EC45, L15, RPL10, RPLY10, RPYL10]",ribosomal protein L15,gene with protein product,3p24.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301769, PMID:23812780]",604174,ENSG00000174748,,P61313,P61313,HGNC:10306 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPS15A,[S15A],ribosomal protein S15a,gene with protein product,16p12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27909223],603674,ENSG00000134419,,P62244,P62244,HGNC:10389 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPL26,[L26],ribosomal protein L26,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301769, PMID:22431104]",603704,ENSG00000161970,,P61254,P61254,HGNC:10327 +GARD:0006274,Orphanet,124,ORPHA:124,23,ADA2,[ADGF],adenosine deaminase 2,gene with protein product,22q11.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30503522],607575,ENSG00000093072,,Q9NZK5,Q9NZK5,HGNC:1839 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPS7,"[S7, eS7]",ribosomal protein S7,gene with protein product,2p25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301769],603658,ENSG00000171863,,P62081,P62081,HGNC:10440 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPS24,"[S24, eS24]",ribosomal protein S24,gene with protein product,10q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301769],602412,ENSG00000138326,,P62847,P62847,HGNC:10411 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPL5,"[L5, PPP1R135, protein phosphatase 1, regulatory subunit 135, uL18]",ribosomal protein L5,gene with protein product,1p22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301769],603634,ENSG00000122406,,P46777,P46777,HGNC:10360 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPL11,"[60S ribosomal protein L11, L11, uL5]",ribosomal protein L11,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301769],604175,ENSG00000142676,,P62913,P62913,HGNC:10301 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPL35,"[60S ribosomal protein L35, L35]",ribosomal protein L35,gene with protein product,9q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28280134],618315,ENSG00000136942,,P42766,P42766,HGNC:10344 +GARD:0006274,Orphanet,124,ORPHA:124,23,GATA1,"[ERYF1, GATA-1, NF-E1, NFE1, nuclear factor, erythroid 1]",GATA binding protein 1,gene with protein product,Xp11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22706301, PMID:24952648]",305371,ENSG00000102145,,P15976,P15976,HGNC:4170 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPS20,"[S20, uS10]",ribosomal protein S20,gene with protein product,8q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:32790018],603682,ENSG00000008988,,P60866,P60866,HGNC:10405 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPS29,"[S29, uS14]",ribosomal protein S29,gene with protein product,14q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24829207],603633,ENSG00000213741,,P62273,P62273,HGNC:10419 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPS26,"[40S ribosomal protein S26, S26, eS26]",ribosomal protein S26,gene with protein product,12q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301769],603701,ENSG00000197728,,P62854,P62854,HGNC:10414 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPS10,"[MGC88819, S10]",ribosomal protein S10,gene with protein product,6p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301769],603632,ENSG00000124614,,P46783,P46783,HGNC:10383 +GARD:0006274,Orphanet,124,ORPHA:124,23,TSR2,"[DT1P1A10, RP1-112K5.2, WGG motif containing 1, WGG1, escortin]",TSR2 ribosome maturation factor,gene with protein product,Xp11.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24942156],300945,ENSG00000158526,,Q969E8,Q969E8,HGNC:25455 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPS28,"[40S ribosomal protein S28, S28, eS28]",ribosomal protein S28,gene with protein product,19p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24942156],603685,ENSG00000233927,,P62857,P62857,HGNC:10418 +GARD:0006274,Orphanet,124,ORPHA:124,23,RPS27,"[MPS-1, MPS1, S27, metallopanstimulin 1]",ribosomal protein S27,gene with protein product,1q21.3,Candidate gene tested in,Not yet assessed,[PMID:25424902],603702,ENSG00000177954,,P42677,P42677,HGNC:10416 +GARD:0006275,Orphanet,628,ORPHA:628,1,SLC26A2,[DTDST],solute carrier family 26 member 2,gene with protein product,5q32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301524],606718,ENSG00000155850,1098,P50443,P50443,HGNC:10994 +GARD:0006288,Orphanet,233,ORPHA:233,3,CHN1,"[ARHGAP2, Chimerin 1 (GTPase-activating protein, rho, 2), RhoGAP2, chimaerin 1, n-chimerin]",chimerin 1,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18653847],118423,ENSG00000128656,,P15882,P15882,HGNC:1943 +GARD:0006288,Orphanet,233,ORPHA:233,3,SALL4,"[ZNF797, dJ1112F19.1]",spalt like transcription factor 4,gene with protein product,20q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23687435],607343,ENSG00000101115,,Q9UJQ4,Q9UJQ4,HGNC:15924 +GARD:0006288,Orphanet,233,ORPHA:233,3,MAFB,,MAF bZIP transcription factor B,gene with protein product,20q12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27181683],608968,ENSG00000204103,,Q9Y5Q3,Q9Y5Q3,HGNC:6408 +GARD:0006290,Orphanet,235,ORPHA:235,2,LIG4,"[DNA joinase, DNA repair enzyme, polydeoxyribonucleotide synthase [ATP] 4, polynucleotide ligase, sealase]",DNA ligase 4,gene with protein product,13q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24892279],601837,ENSG00000174405,,P49917,P49917,HGNC:6601 +GARD:0006290,Orphanet,235,ORPHA:235,2,NSUN2,"[FLJ20303, Misu, Myc-induced SUN-domain-containing protein, TRM4, tRNA methyltransferase 4 homolog (S. cerevisiae)]",NOP2/Sun RNA methyltransferase 2,gene with protein product,5p15.31,Disease-causing germline mutation(s) in,Assessed,[PMID:22577224],610916,ENSG00000037474,,Q08J23,Q08J23,HGNC:25994 +GARD:0006291,Orphanet,98896,ORPHA:98896,2,LTBP4,"[FLJ46318, FLJ90018, LTBP-4, LTBP-4L]",latent transforming growth factor beta binding protein 4,gene with protein product,19q13.2,Modifying germline mutation in,Assessed,[PMID:23440719],604710,ENSG00000090006,,Q8N2S1,Q8N2S1,HGNC:6717 +GARD:0006291,Orphanet,98896,ORPHA:98896,2,DMD,"[BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, muscular dystrophy, Duchenne and Becker types]",dystrophin,gene with protein product,Xp21.2-p21.1,Disease-causing germline mutation(s) in,Assessed,,300377,ENSG00000198947,,P11532,P11532,HGNC:2928 +GARD:0006295,Orphanet,239,ORPHA:239,1,DYM,"[DMC, FLJ20071, SMC]",dymeclin,gene with protein product,18q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12491225, PMID:12554689, PMID:18996921, PMID:21280149]",607461,ENSG00000141627,,Q7RTS9,,HGNC:21317 +GARD:0006299,Orphanet+OMIM,127550,OMIM:127550,1,TERC,"[SCARNA19, TER, TR, TRC3, hTR, small Cajal body-specific RNA 19]",telomerase RNA component,"RNA, misc",3q26.2,The molecular basis of the disorder is known,Unknown,,602322,ENSG00000270141,,,,HGNC:11727 +GARD:0006300,Orphanet+OMIM,224230,OMIM:224230,1,NOP10,"[MGC70651, NOP10P, homolog of yeast Nop10p]",NOP10 ribonucleoprotein,gene with protein product,15q14,The molecular basis of the disorder is known,Unknown,,606471,ENSG00000182117,,Q9NPE3,Q9NPE3,HGNC:14378 +GARD:0006308,Orphanet,79408,ORPHA:79408,2,MMP1,[interstitial collagenase],matrix metallopeptidase 1,gene with protein product,11q22.2,Modifying germline mutation in,Not yet assessed,,120353,ENSG00000196611,1628,P03956,P03956,HGNC:7155 +GARD:0006308,Orphanet,79408,ORPHA:79408,2,COL7A1,"[LC collagen, collagen VII, alpha-1 polypeptide]",collagen type VII alpha 1 chain,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,,120120,ENSG00000114270,,Q02388,Q02388,HGNC:2214 +GARD:0006313,Orphanet,1880,ORPHA:1880,1,MYH7,[CMD1S],myosin heavy chain 7,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23956225],160760,ENSG00000092054,,P12883,P12883,HGNC:7577 +GARD:0006319,Orphanet,2440,ORPHA:2440,7,SEM1,"[DSS1, ECD, FLJ42280, PSMD15, SHSF1, Shfdg1, deleted in split-hand/foot 1]",SEM1 26S proteasome subunit,gene with protein product,7q21.3,Candidate gene tested in,Not yet assessed,[PMID:23169702],601285,ENSG00000127922,,P60896,P60896,HGNC:10845 +GARD:0006319,Orphanet,2440,ORPHA:2440,7,EPS15L1,[eps15R],epidermal growth factor receptor pathway substrate 15 like 1,gene with protein product,19p13.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29023680],616826,ENSG00000127527,,Q9UBC2,Q9UBC2,HGNC:24634 +GARD:0006319,Orphanet,2440,ORPHA:2440,7,TP63,"[EEC3, KET, NBP, OFC8, SHFM4, p51, p53CP, p63, p73H, p73L]",tumor protein p63,gene with protein product,3q28,Disease-causing germline mutation(s) in,Assessed,[PMID:10839977],603273,ENSG00000073282,,Q9H3D4,Q9H3D4,HGNC:15979 +GARD:0006319,Orphanet,2440,ORPHA:2440,7,BTRC,"[FBXW1A, Fwd1, bTrCP, bTrCP1, beta-TrCP1, betaTrCP]",beta-transducin repeat containing E3 ubiquitin protein ligase,gene with protein product,10q24.32,Candidate gene tested in,Not yet assessed,"[PMID:16691619, PMID:24115638]",603482,ENSG00000166167,,Q9Y297,Q9Y297,HGNC:1144 +GARD:0006319,Orphanet,2440,ORPHA:2440,7,WNT10B,"[SHFM6, WNT-12]",Wnt family member 10B,gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:18515319, PMID:20635353]",601906,ENSG00000169884,,O00744,O00744,HGNC:12775 +GARD:0006319,Orphanet,2440,ORPHA:2440,7,DLX6,,distal-less homeobox 6,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28611547],600030,ENSG00000006377,,P56179,,HGNC:2919 +GARD:0006319,Orphanet,2440,ORPHA:2440,7,DLX5,,distal-less homeobox 5,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24496061],600028,ENSG00000105880,,P56178,,HGNC:2918 +GARD:0006339,Orphanet,213711,ORPHA:213711,5,NUTM2A,,NUT family member 2A,gene with protein product,10q23.2,Part of a fusion gene in,Assessed,"[PMID:22223660, PMID:25299308]",,ENSG00000184923,,Q8IVF1,,HGNC:23438 +GARD:0006339,Orphanet,213711,ORPHA:213711,5,SUZ12,"[CHET9, JJAZ1, KIAA0160]",SUZ12 polycomb repressive complex 2 subunit,gene with protein product,17q11.2,Part of a fusion gene in,Assessed,[PMID:25299308],606245,ENSG00000178691,,Q15022,Q15022,HGNC:17101 +GARD:0006339,Orphanet,213711,ORPHA:213711,5,JAZF1,"[DKFZp761K2222, TIP27, ZNF802]",JAZF zinc finger 1,gene with protein product,7p15.2-p15.1,Part of a fusion gene in,Assessed,[PMID:25299308],606246,ENSG00000153814,,Q86VZ6,,HGNC:28917 +GARD:0006339,Orphanet,213711,ORPHA:213711,5,YWHAE,"[14-3-3 epsilon, FLJ45465]",tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon,gene with protein product,17p13.3,Part of a fusion gene in,Assessed,"[PMID:22223660, PMID:25299308]",605066,ENSG00000108953,,P62258,P62258,HGNC:12851 +GARD:0006339,Orphanet,213711,ORPHA:213711,5,NUTM2B,[bA119F19.1],NUT family member 2B,gene with protein product,10q22.3,Part of a fusion gene in,Assessed,"[PMID:22223660, PMID:25299308]",,ENSG00000188199,,A6NNL0,,HGNC:23445 +GARD:0006353,Orphanet,251636,ORPHA:251636,2,RELA,[p65],"RELA proto-oncogene, NF-kB subunit",gene with protein product,11q13.1,Part of a fusion gene in,Assessed,[PMID:24553141],164014,ENSG00000173039,,Q04206,Q04206,HGNC:9955 +GARD:0006353,Orphanet,251636,ORPHA:251636,2,ZFTA,[MGC3032],zinc finger translocation associated,gene with protein product,11q13.1,Part of a fusion gene in,Assessed,[PMID:24553141],615699,ENSG00000188070,,C9JLR9,,HGNC:28449 +GARD:0006357,Orphanet,302,ORPHA:302,4,IL7,[IL-7],interleukin 7,gene with protein product,8q21.13,Disease-causing germline mutation(s) in,Assessed,[PMID:25981006],146660,ENSG00000104432,4999,P13232,P13232,HGNC:6023 +GARD:0006357,Orphanet,302,ORPHA:302,4,TMC8,[EVIN2],transmembrane channel like 8,gene with protein product,17q25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:12426567],605829,ENSG00000167895,,Q8IU68,,HGNC:20474 +GARD:0006357,Orphanet,302,ORPHA:302,4,TMC6,"[EVIN1, LAK-4P]",transmembrane channel like 6,gene with protein product,17q25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:12426567],605828,ENSG00000141524,,Q7Z403,Q7Z403,HGNC:18021 +GARD:0006357,Orphanet,302,ORPHA:302,4,CIB1,"[CIB, KIP, SIP2-28, calmyrin]",calcium and integrin binding 1,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30068544],602293,ENSG00000185043,,Q99828,Q99828,HGNC:16920 +GARD:0006377,Orphanet,90026,ORPHA:90026,3,SCN11A,"[NaN, Nav1.9, SNS-2]",sodium voltage-gated channel alpha subunit 11,gene with protein product,3p22.2,Candidate gene tested in,Not yet assessed,,604385,ENSG00000168356,586,Q9UI33,Q9UI33,HGNC:10583 +GARD:0006377,Orphanet,90026,ORPHA:90026,3,SCN9A,"[ETHA, NE-NA, NENA, Nav1.7, PN1]",sodium voltage-gated channel alpha subunit 9,gene with protein product,2q24.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:15958509],603415,ENSG00000169432,584,Q15858,Q15858,HGNC:10597 +GARD:0006377,Orphanet,90026,ORPHA:90026,3,SCN10A,"[Nav1.8, PN3, SNS, hPN3, peripheral nerve sodium channel 3, sensory neuron sodium channel]",sodium voltage-gated channel alpha subunit 10,gene with protein product,3p22.2,Candidate gene tested in,Not yet assessed,,604427,ENSG00000185313,585,Q9Y5Y9,Q9Y5Y9,HGNC:10582 +GARD:0006390,Orphanet,319,ORPHA:319,5,ETV1,[ER81],ETS variant transcription factor 1,gene with protein product,7p21.2,Part of a fusion gene in,Assessed,,600541,ENSG00000006468,,P50549,P50549,HGNC:3490 +GARD:0006390,Orphanet,319,ORPHA:319,5,FLI1,"[EWSR2, SIC-1]","Fli-1 proto-oncogene, ETS transcription factor",gene with protein product,11q24.3,Part of a fusion gene in,Assessed,,193067,ENSG00000151702,,Q01543,Q01543,HGNC:3749 +GARD:0006390,Orphanet,319,ORPHA:319,5,EWSR1,[EWS],EWS RNA binding protein 1,gene with protein product,22q12.2,Part of a fusion gene in,Assessed,,133450,ENSG00000182944,,Q01844,Q01844,HGNC:3508 +GARD:0006390,Orphanet,319,ORPHA:319,5,ETV4,"[E1A enhancer binding protein, E1A-F, E1AF, PEA3]",ETS variant transcription factor 4,gene with protein product,17q21.31,Part of a fusion gene in,Assessed,,600711,ENSG00000175832,,P43268,P43268,HGNC:3493 +GARD:0006390,Orphanet,319,ORPHA:319,5,ERG,"[ETS-related gene, TMPRSS2-ERG prostate cancer specific, erg-3, p55, transcriptional regulator ERG (transforming protein ERG), v-ets erythroblastosis virus E26 oncogene like]",ETS transcription factor ERG,gene with protein product,21q22.2,Part of a fusion gene in,Assessed,,165080,ENSG00000157554,,P11308,P11308,HGNC:3446 +GARD:0006398,Orphanet,93930,ORPHA:93930,2,ISL1,"[ISLET1, Isl-1]",ISL LIM homeobox 1,gene with protein product,5q11.1,Major susceptibility factor in,Assessed,[PMID:25763902],600366,ENSG00000016082,,P61371,P61371,HGNC:6132 +GARD:0006398,Orphanet,93930,ORPHA:93930,2,TP63,"[EEC3, KET, NBP, OFC8, SHFM4, p51, p53CP, p63, p73H, p73L]",tumor protein p63,gene with protein product,3q28,Major susceptibility factor in,Assessed,[PMID:23284286],603273,ENSG00000073282,,Q9H3D4,Q9H3D4,HGNC:15979 +GARD:0006400,Orphanet,324,ORPHA:324,1,GLA,[GALA],galactosidase alpha,gene with protein product,Xq22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301469],300644,ENSG00000102393,,P06280,P06280,HGNC:4296 +GARD:0006404,Orphanet,328,ORPHA:328,1,F10,,coagulation factor X,gene with protein product,13q34,Disease-causing germline mutation(s) in,Assessed,"[PMID:15892863, PMID:26222694, PMID:26309706]",613872,ENSG00000126218,2359,P00742,P00742,HGNC:3528 +GARD:0006406,Orphanet,1980,ORPHA:1980,6,PDGFRB,"[CD140b, JTK12, PDGFR1]",platelet derived growth factor receptor beta,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301594, PMID:23255827]",173410,ENSG00000113721,1804,P09619,P09619,HGNC:8804 +GARD:0006406,Orphanet,1980,ORPHA:1980,6,MYORG,[NET37],myogenesis regulating glycosidase (putative),gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30649222],618255,ENSG00000164976,,Q6NSJ0,,HGNC:19918 +GARD:0006406,Orphanet,1980,ORPHA:1980,6,XPR1,"[SLC53A1, SYG1, X3, solute carrier family 53 (phosphate exporter), member 1]",xenotropic and polytropic retrovirus receptor 1,gene with protein product,1q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25938945],605237,ENSG00000143324,3021,Q9UBH6,,HGNC:12827 +GARD:0006406,Orphanet,1980,ORPHA:1980,6,SLC20A2,"[Glvr-2, PiT-2, Ram-1]",solute carrier family 20 member 2,gene with protein product,8p11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301594, PMID:22327515]",158378,ENSG00000168575,1018,Q08357,Q08357,HGNC:10947 +GARD:0006406,Orphanet,1980,ORPHA:1980,6,JAM2,"[CD322, JAM-B, JAMB, VE-JAM]",junctional adhesion molecule 2,gene with protein product,21q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31851307],606870,ENSG00000154721,,P57087,P57087,HGNC:14686 +GARD:0006406,Orphanet,1980,ORPHA:1980,6,PDGFB,"[SSV, becaplermin, oncogene SIS]",platelet derived growth factor subunit B,gene with protein product,22q13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301594, PMID:23913003]",190040,ENSG00000100311,,P01127,P01127,HGNC:8800 +GARD:0006421,Orphanet,342,ORPHA:342,1,MEFV,"[FMF, TRIM20, marenostrin]","MEFV innate immuity regulator, pyrin",gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,,608107,ENSG00000103313,,O15553,O15553,HGNC:6998 +GARD:0006425,Orphanet,84,ORPHA:84,22,SLX4,"[FANCP, Fanconi anemia, complementation group P, KIAA1784, KIAA1987]",SLX4 structure-specific endonuclease subunit,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],613278,ENSG00000188827,,Q8IY92,Q8IY92,HGNC:23845 +GARD:0006425,Orphanet,84,ORPHA:84,22,FANCM,[FAAP250],FA complementation group M,gene with protein product,14q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],609644,ENSG00000187790,,Q8IYD8,Q8IYD8,HGNC:23168 +GARD:0006425,Orphanet,84,ORPHA:84,22,FANCE,[FAE],FA complementation group E,gene with protein product,6p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],613976,ENSG00000112039,,Q9HB96,Q9HB96,HGNC:3586 +GARD:0006425,Orphanet,84,ORPHA:84,22,RFWD3,"[FANCW, FLJ10520, RNF201]",ring finger and WD repeat domain 3,gene with protein product,16q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28691929],614151,ENSG00000168411,,Q6PCD5,Q6PCD5,HGNC:25539 +GARD:0006425,Orphanet,84,ORPHA:84,22,BRCA1,"[BRCA1/BRCA2-containing complex, subunit 1, BRCC1, FANCS, Fanconi anemia, complementation group S, PPP1R53, RNF53, protein phosphatase 1, regulatory subunit 53]",BRCA1 DNA repair associated,gene with protein product,17q21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29133208],113705,ENSG00000012048,,P38398,P38398,HGNC:1100 +GARD:0006425,Orphanet,84,ORPHA:84,22,XRCC2,"[FANCU, RAD51-like]",X-ray repair cross complementing 2,gene with protein product,7q36.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:22232082, PMID:27208205]",600375,ENSG00000196584,,O43543,O43543,HGNC:12829 +GARD:0006425,Orphanet,84,ORPHA:84,22,UBE2T,"[FANCT, HSPC150]",ubiquitin conjugating enzyme E2 T,gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26046368],610538,ENSG00000077152,,Q9NPD8,Q9NPD8,HGNC:25009 +GARD:0006425,Orphanet,84,ORPHA:84,22,ERCC4,"[FANCQ, RAD1, xeroderma pigmentosum, complementation group F]","ERCC excision repair 4, endonuclease catalytic subunit",gene with protein product,16p13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:23623386],133520,ENSG00000175595,,Q92889,Q92889,HGNC:3436 +GARD:0006425,Orphanet,84,ORPHA:84,22,FANCI,[FLJ10719],FA complementation group I,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],611360,ENSG00000140525,,Q9NVI1,Q9NVI1,HGNC:25568 +GARD:0006425,Orphanet,84,ORPHA:84,22,FANCG,"[DNA repair protein XRCC9, FAG, X-ray repair complementing defective repair in Chinese hamster cells 9, X-ray repair, complementing defective, in Chinese hamster, 9]",FA complementation group G,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],602956,ENSG00000221829,,O15287,O15287,HGNC:3588 +GARD:0006425,Orphanet,84,ORPHA:84,22,RAD51C,"[FANCO, RAD51L2]",RAD51 paralog C,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],602774,ENSG00000108384,,O43502,O43502,HGNC:9820 +GARD:0006425,Orphanet,84,ORPHA:84,22,FANCL,"[FAAP43, FLJ10335, Pog]",FA complementation group L,gene with protein product,2p16.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],608111,ENSG00000115392,,Q9NW38,Q9NW38,HGNC:20748 +GARD:0006425,Orphanet,84,ORPHA:84,22,FANCD2,"[FA-D2, FAD]",FA complementation group D2,gene with protein product,3p25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],613984,ENSG00000144554,,Q9BXW9,Q9BXW9,HGNC:3585 +GARD:0006425,Orphanet,84,ORPHA:84,22,FANCA,"[FA-H, FAA, FAH]",FA complementation group A,gene with protein product,16q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],607139,ENSG00000187741,,O15360,O15360,HGNC:3582 +GARD:0006425,Orphanet,84,ORPHA:84,22,BRIP1,"[BACH1, BRCA1 interacting protein 1, BRCA1-associated C-terminal helicase, BRCA1/BRCA2-associated helicase 1, FANCJ, FANCJ helicase, OF]",BRCA1 interacting helicase 1,gene with protein product,17q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],605882,ENSG00000136492,,Q9BX63,Q9BX63,HGNC:20473 +GARD:0006425,Orphanet,84,ORPHA:84,22,MAD2L2,"[FANCV, MAD2B, POLZ2, REV7, mitotic arrest deficient homolog-like 2, polymerase (DNA-directed), zeta 2, accessory subunit]",mitotic arrest deficient 2 like 2,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,[PMID:27500492],604094,ENSG00000116670,,Q9UI95,Q9UI95,HGNC:6764 +GARD:0006425,Orphanet,84,ORPHA:84,22,RAD51,"[BRCA1/BRCA2-containing complex, subunit 5, BRCC5, FANCR, HsRad51, HsT16930]",RAD51 recombinase,gene with protein product,15q15.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26681308],179617,ENSG00000051180,,Q06609,Q06609,HGNC:9817 +GARD:0006425,Orphanet,84,ORPHA:84,22,PALB2,"[FANCN, FLJ21816, Fanconi anemia, complementation group N]",partner and localizer of BRCA2,gene with protein product,16p12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],610355,ENSG00000083093,,Q86YC2,Q86YC2,HGNC:26144 +GARD:0006425,Orphanet,84,ORPHA:84,22,FANCF,[FAF],FA complementation group F,gene with protein product,11p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],613897,ENSG00000183161,,Q9NPI8,Q9NPI8,HGNC:3587 +GARD:0006425,Orphanet,84,ORPHA:84,22,FANCC,"[FA3, FAC]",FA complementation group C,gene with protein product,9q22.32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],613899,ENSG00000158169,,Q00597,Q00597,HGNC:3584 +GARD:0006425,Orphanet,84,ORPHA:84,22,FANCB,"[FAAP95, FAB, FLJ34064]",FA complementation group B,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],300515,ENSG00000181544,,Q8NB91,Q8NB91,HGNC:3583 +GARD:0006425,Orphanet,84,ORPHA:84,22,BRCA2,"[BRCA1/BRCA2-containing complex, subunit 2, BRCC2, FAD, FAD1, XRCC11]",BRCA2 DNA repair associated,gene with protein product,13q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301575],600185,ENSG00000139618,,P51587,P51587,HGNC:1101 +GARD:0006426,Orphanet,333,ORPHA:333,1,ASAH1,"[AC, ACDase, FLJ21558, PHP32, acid ceramidase, acylsphingosine deacylase]",N-acylsphingosine amidohydrolase 1,gene with protein product,8p22,Disease-causing germline mutation(s) in,Assessed,[PMID:24355074],613468,ENSG00000104763,2491,Q13510,Q13510,HGNC:735 +GARD:0006429,Orphanet,466,ORPHA:466,1,PRNP,"[AltPrP, CD230, Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, PRP, fatal familial insomnia, p27-30]",prion protein,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301407],176640,ENSG00000171867,,P04156,P04156,HGNC:9449 +GARD:0006445,Orphanet,337,ORPHA:337,1,ACVR1,"[ACVR1A, ALK2, SKR1]",activin A receptor type 1,gene with protein product,2q24.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23011467],102576,ENSG00000115170,1785,Q04771,,HGNC:171 +GARD:0006447,Orphanet,468726,ORPHA:468726,1,FMO3,"[Dimethylaniline monooxygenase [N-oxide-forming] 3, FMOII]",flavin containing dimethylaniline monoxygenase 3,gene with protein product,1q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19321370, PMID:20301282]",136132,ENSG00000007933,,P31513,P31513,HGNC:3771 +GARD:0006450,Orphanet,79292,ORPHA:79292,1,LCAT,[phosphatidylcholine--sterol O-acyltransferase],lecithin-cholesterol acyltransferase,gene with protein product,16q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:9162740],606967,ENSG00000213398,,P04180,P04180,HGNC:6522 +GARD:0006455,Orphanet,2044,ORPHA:2044,1,SRCAP,"[DOMO1, Domino homolog 1 (Drosophila), EAF1, KIAA0309, SWR1, Swi2/Snf2-related ATPase homolog (S. cerevisiae), domino homolog 1 (Drosophila)]",Snf2 related CREBBP activator protein,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22965468],611421,ENSG00000080603,,Q6ZRS2,,HGNC:16974 +GARD:0006457,Orphanet,2092,ORPHA:2092,1,PORCN,"[MG61, PORC, PPN, por]",porcupine O-acyltransferase,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:19586929],300651,ENSG00000102312,3145,Q9H237,Q9H237,HGNC:17652 +GARD:0006464,Orphanet,908,ORPHA:908,1,FMR1,"[FMRP, FRAXA, MGC87458]",fragile X messenger ribonucleoprotein 1,gene with protein product,Xq27.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301558],309550,ENSG00000102081,,Q06787,,HGNC:3775 +GARD:0006465,Orphanet,2052,ORPHA:2052,3,FRAS1,"[FLJ14927, FLJ22031, KIAA1500]",Fraser extracellular matrix complex subunit 1,gene with protein product,4q21.21,Disease-causing germline mutation(s) in,Assessed,[PMID:23473829],607830,ENSG00000138759,,Q86XX4,,HGNC:19185 +GARD:0006465,Orphanet,2052,ORPHA:2052,3,FREM2,[DKFZp686J0811],FRAS1 related extracellular matrix 2,gene with protein product,13q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18671281],608945,ENSG00000150893,,Q5SZK8,,HGNC:25396 +GARD:0006465,Orphanet,2052,ORPHA:2052,3,GRIP1,,glutamate receptor interacting protein 1,gene with protein product,12q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22510445],604597,ENSG00000155974,,Q9Y3R0,Q9Y3R0,HGNC:18708 +GARD:0006466,Orphanet,2053,ORPHA:2053,2,NALCN,"[CanIon, bA430M15.1]","sodium leak channel, non-selective",gene with protein product,13q32.3-q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25683120],611549,ENSG00000102452,750,Q8IZF0,Q8IZF0,HGNC:19082 +GARD:0006466,Orphanet,2053,ORPHA:2053,2,MYH3,"[HEMHC, MYHC-EMB, MYHSE1, SMHCE, muscle embryonic myosin heavy chain 3, myosin, skeletal, heavy chain, embryonic 1]",myosin heavy chain 3,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16642020],160720,ENSG00000109063,,P11055,P11055,HGNC:7573 +GARD:0006468,Orphanet,95,ORPHA:95,1,FXN,"[CyaY, FA, FARR, X25]",frataxin,gene with protein product,9q21.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21776984],606829,ENSG00000165060,,Q16595,Q16595,HGNC:3951 +GARD:0006471,Orphanet,2056,ORPHA:2056,1,KHK,[fructokinase],ketohexokinase,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19237742, PMID:7833921]",614058,ENSG00000138030,,P50053,P50053,HGNC:6315 +GARD:0006473,Orphanet,349,ORPHA:349,1,FUCA1,"[α-L-fucosidase 1, a-L-fucosidase 1, tissue fucosidase]",alpha-L-fucosidase 1,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:10094192],612280,ENSG00000179163,,P04066,P04066,HGNC:4006 +GARD:0006475,Orphanet,272,ORPHA:272,1,FKTN,[LGMD2M],fukutin,gene with protein product,9q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301385],607440,ENSG00000106692,,O75072,,HGNC:3622 +GARD:0006476,Orphanet,24,ORPHA:24,1,FH,[fumarase],fumarate hydratase,gene with protein product,1q43,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301679],136850,ENSG00000091483,,P07954,P07954,HGNC:3700 +GARD:0006479,Orphanet,79255,ORPHA:79255,1,GLB1,"[EBP, elastin binding protein]",galactosidase beta 1,gene with protein product,3p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24156116],611458,ENSG00000170266,,P16278,P16278,HGNC:4298 +GARD:0006482,Orphanet,79665,ORPHA:79665,1,APC,"[DP2, DP2.5, DP3, PPP1R46, protein phosphatase 1, regulatory subunit 46]",APC regulator of WNT signaling pathway,gene with protein product,5q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301519],611731,ENSG00000134982,,P25054,P25054,HGNC:583 +GARD:0006485,Orphanet,52417,ORPHA:52417,5,IGH,,immunoglobulin heavy locus,gene with protein product,14q32.33,Part of a fusion gene in,Assessed,[PMID:15703784],146910; 147010; 147070,,,Q6P089,,HGNC:5477 +GARD:0006485,Orphanet,52417,ORPHA:52417,5,FOXP1,"[12CC4, HSPC215, PAX5/FOXP1 fusion protein, QRF1, fork head-related protein like B, glutamine-rich factor 1, hFKH1B]",forkhead box P1,gene with protein product,3p13,Part of a fusion gene in,Assessed,[PMID:15703784],605515,ENSG00000114861,,Q9H334,Q9H334,HGNC:3823 +GARD:0006485,Orphanet,52417,ORPHA:52417,5,MALT1,"[MALT1 protease, PCASP1, paracaspase 1]",MALT1 paracaspase,gene with protein product,18q21.32,Part of a fusion gene in,Assessed,,604860,ENSG00000172175,2983,Q9UDY8,Q9UDY8,HGNC:6819 +GARD:0006485,Orphanet,52417,ORPHA:52417,5,BIRC3,"[MALT2, MIHC, RNF49, TNFR2-TRAF signaling complex protein, apoptosis inhibitor 2, c-IAP2, cIAP2, hiap-1, inhibitor of apoptosis protein 1, mammalian IAP homolog C]",baculoviral IAP repeat containing 3,gene with protein product,11q22.2,Part of a fusion gene in,Assessed,,601721,ENSG00000023445,2792,Q13489,Q13489,HGNC:591 +GARD:0006485,Orphanet,52417,ORPHA:52417,5,BCL10,"[CARD containing molecule enhancing NF-kB, CARD-containing apoptotic signaling protein, CARD-containing proapoptotic protein, CARD-like apoptotic protein, CARMEN, CIPER, CLAP, c-E10, caspase-recruiting domain-containing protein, mE10]",BCL10 immune signaling adaptor,gene with protein product,1p22.3,Part of a fusion gene in,Assessed,"[PMID:10319863, PMID:25922601]",603517,ENSG00000142867,,O95999,O95999,HGNC:989 +GARD:0006500,Orphanet,643,ORPHA:643,1,GAN,"[GAN1, GIG, KLHL16, kelch-like family member 16]",gigaxonin,gene with protein product,16q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301315],605379,ENSG00000261609,,Q9H2C0,Q9H2C0,HGNC:4137 +GARD:0006506,Orphanet,99725,ORPHA:99725,2,MEN1,[menin],menin 1,gene with protein product,11q13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26187128],613733,ENSG00000133895,,O00255,O00255,HGNC:7010 +GARD:0006506,Orphanet,99725,ORPHA:99725,2,AIP,"[ARA9, Ah receptor activated 9, FK506-binding protein 37, FKBP prolyl isomerase 16, FKBP16, FKBP37, X-associated protein-2, XAP2, aryl hydrocarbon receptor-associated protein 9, hepatitis B virus X-associated cellular protein 2]",aryl hydrocarbon receptor interacting protein,gene with protein product,11q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26187128],605555,ENSG00000110711,,O00170,O00170,HGNC:358 +GARD:0006509,Orphanet+OMIM,135300,OMIM:135300,1,SOS1,"[GF1, HGF]",SOS Ras/Rac guanine nucleotide exchange factor 1,gene with protein product,2p22.1,The molecular basis of the disorder is known,Unknown,,182530,ENSG00000115904,objectId:3096,Q07889,Q07889,HGNC:11187 +GARD:0006520,Orphanet,466026,ORPHA:466026,1,G6PD,[G6PD1],glucose-6-phosphate dehydrogenase,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:7577654],305900,ENSG00000160211,,P11413,P11413,HGNC:4057 +GARD:0006521,Orphanet,35710,ORPHA:35710,1,SLC5A1,"[D22S675, NAGT, sodium/glucose cotransporter 1]",solute carrier family 5 member 1,gene with protein product,22q12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12139397, PMID:8563765]",182380,ENSG00000100170,915,P13866,P13866,HGNC:11036 +GARD:0006522,Orphanet,25,ORPHA:25,1,GCDH,"[ACAD5, GCD]",glutaryl-CoA dehydrogenase,gene with protein product,19p13.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18775954],608801,ENSG00000105607,,Q92947,Q92947,HGNC:4189 +GARD:0006528,Orphanet,368,ORPHA:368,1,PYGM,"[GSD5, McArdle syndrome, glycogen phosphorylase, muscle form, glycogen storage disease type V, myophosphorylase]","glycogen phosphorylase, muscle associated",gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,,608455,ENSG00000068976,,P11217,P11217,HGNC:9726 +GARD:0006529,Orphanet,369,ORPHA:369,1,PYGL,"[GSD6, Hers disease, glycogen phosphorylase, liver form, glycogen storage disease type VI]",glycogen phosphorylase L,gene with protein product,14q22.1,Disease-causing germline mutation(s) in,Assessed,,613741,ENSG00000100504,,P06737,P06737,HGNC:9725 +GARD:0006543,Orphanet,2500,ORPHA:2500,1,COL3A1,,collagen type III alpha 1 chain,gene with protein product,2q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:10819545],120180,ENSG00000168542,,P02461,P02461,HGNC:2201 +GARD:0006550,Orphanet,380,ORPHA:380,1,GLI3,"[ACLS, DNA-binding protein, PAP-A, PAPA, PAPA1, PAPB, PPDIV, oncogene GLI3, zinc finger protein GLI3]",GLI family zinc finger 3,gene with protein product,7p14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10441342, PMID:12794692, PMID:18435847, PMID:20301619]",165240,ENSG00000106571,,P10071,P10071,HGNC:4319 +GARD:0006556,Orphanet,414,ORPHA:414,1,OAT,"[HOGA, Ornithine aminotransferase, gyrate atrophy, ornithine aminotransferase precursor]",ornithine aminotransferase,gene with protein product,10q26.13,Disease-causing germline mutation(s) in,Assessed,[PMID:23076989],613349,ENSG00000065154,,P04181,P04181,HGNC:8091 +GARD:0006558,Orphanet,330,ORPHA:330,1,F12,,coagulation factor XII,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20386432, PMID:22043782]",610619,ENSG00000131187,2361,P00748,P00748,HGNC:3530 +GARD:0006559,Orphanet,2841,ORPHA:2841,1,ATP2C1,"[ATP2C1A, KIAA1347, PMR1, SPCA1, calcium-transporting ATPase type 2C member 1, secretory pathway Ca2+/Mn2+ ATPase 1]",ATPase secretory pathway Ca2+ transporting 1,gene with protein product,3q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:10615129],604384,ENSG00000017260,847,P98194,P98194,HGNC:13211 +GARD:0006560,Orphanet,58017,ORPHA:58017,1,BRAF,[BRAF1],"B-Raf proto-oncogene, serine/threonine kinase",gene with protein product,7q34,Disease-causing somatic mutation(s) in,Assessed,"[PMID:21663470, PMID:24241536]",164757,ENSG00000157764,1943,P15056,P15056,HGNC:1097 +GARD:0006568,Orphanet,457,ORPHA:457,1,ABCA12,"[DKFZP434G232, LI2]",ATP binding cassette subfamily A member 12,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,"[PMID:19179616, PMID:20301593]",607800,ENSG00000144452,766,Q86UK0,Q86UK0,HGNC:14637 +GARD:0006569,Orphanet,2116,ORPHA:2116,2,SLC6A19,[Hartnup disease],solute carrier family 6 member 19,gene with protein product,5p15.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:15286787, PMID:15286788]",608893,ENSG00000174358,939,Q695T7,Q695T7,HGNC:27960 +GARD:0006569,Orphanet,2116,ORPHA:2116,2,CLTRN,"[NX17, collectrin]","collectrin, amino acid transport regulator",gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31520464],300631,ENSG00000147003,,Q9HBJ8,,HGNC:29437 +GARD:0006584,Orphanet,251365,ORPHA:251365,1,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:20301551],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0006589,Orphanet,540,ORPHA:540,4,UNC13D,[Munc13-4],unc-13 homolog D,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11179007],608897,ENSG00000092929,,Q70J99,Q70J99,HGNC:23147 +GARD:0006589,Orphanet,540,ORPHA:540,4,STX11,,syntaxin 11,gene with protein product,6q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:11179007],605014,ENSG00000135604,,O75558,O75558,HGNC:11429 +GARD:0006589,Orphanet,540,ORPHA:540,4,PRF1,"[HPLH2, P1, PFP, Perforin, perforin 1 (preforming protein)]",perforin 1,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:11179007],170280,ENSG00000180644,3100,P14222,,HGNC:9360 +GARD:0006589,Orphanet,540,ORPHA:540,4,STXBP2,"[Hunc18b, MUNC18-2, UNC18B, Unc18-2]",syntaxin binding protein 2,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:11179007],601717,ENSG00000076944,,Q15833,Q15833,HGNC:11445 +GARD:0006594,Orphanet,3318,ORPHA:3318,6,TET2,"[FLJ20032, ten-eleven translocation 2]",tet methylcytosine dioxygenase 2,gene with protein product,4q24,Biomarker tested in,Assessed,"[PMID:19262601, PMID:23781511]",612839,ENSG00000168769,,Q6N021,Q6N021,HGNC:25941 +GARD:0006594,Orphanet,3318,ORPHA:3318,6,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Biomarker tested in,Assessed,"[PMID:20068225, PMID:21653328, PMID:9258660]",191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0006594,Orphanet,3318,ORPHA:3318,6,CALR,"[CRT, FLJ26680, RO, SSA, Sicca syndrome antigen A (autoantigen Ro; calreticulin), autoantigen Ro, cC1qR]",calreticulin,gene with protein product,19p13.13,Disease-causing somatic mutation(s) in,Assessed,"[PMID:24325256, PMID:24325359]",109091,ENSG00000179218,,P27797,P27797,HGNC:1455 +GARD:0006594,Orphanet,3318,ORPHA:3318,6,MPL,"[CD110, THPOR, TPOR]","MPL proto-oncogene, thrombopoietin receptor",gene with protein product,1p34.2,Disease-causing somatic mutation(s) in,Assessed,,159530,ENSG00000117400,1722,P40238,P40238,HGNC:7217 +GARD:0006594,Orphanet,3318,ORPHA:3318,6,SH2B3,"[IDDM20, LNK, lymphocyte adaptor protein]",SH2B adaptor protein 3,gene with protein product,12q24.12,Disease-causing somatic mutation(s) in,Assessed,"[PMID:21653328, PMID:21825979]",605093,ENSG00000111252,,Q9UQQ2,Q9UQQ2,HGNC:29605 +GARD:0006594,Orphanet,3318,ORPHA:3318,6,JAK2,[JTK10],Janus kinase 2,gene with protein product,9p24.1,Disease-causing somatic mutation(s) in,Assessed,"[PMID:21653328, PMID:21825979]",147796,ENSG00000096968,2048,O60674,O60674,HGNC:6192 +GARD:0006608,Orphanet,210159,ORPHA:210159,9,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Candidate gene tested in,Not yet assessed,[PMID:8191284],191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0006608,Orphanet,210159,ORPHA:210159,9,PDGFRL,[PRLTS],platelet derived growth factor receptor like,gene with protein product,8p22,Candidate gene tested in,Not yet assessed,"[PMID:12653892, PMID:7898930]",604584,ENSG00000104213,,Q15198,,HGNC:8805 +GARD:0006608,Orphanet,210159,ORPHA:210159,9,CASP8,"[Casp-8, FLICE, MACH, MCH5]",caspase 8,gene with protein product,2q33.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:15531912],601763,ENSG00000064012,1624,Q14790,Q14790,HGNC:1509 +GARD:0006608,Orphanet,210159,ORPHA:210159,9,PIK3CA,[PI3K],"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",gene with protein product,3q26.32,Disease-causing somatic mutation(s) in,Assessed,[PMID:15608678],171834,ENSG00000121879,2153,P42336,P42336,HGNC:8975 +GARD:0006608,Orphanet,210159,ORPHA:210159,9,TSC2,"[LAM, PPP1R160, protein phosphatase 1, regulatory subunit 160, tuberin]",TSC complex subunit 2,gene with protein product,16p13.3,Candidate gene tested in,Assessed,[PMID:27974549],191092,ENSG00000103197,,P49815,P49815,HGNC:12363 +GARD:0006608,Orphanet,210159,ORPHA:210159,9,AXIN1,"[PPP1R49, protein phosphatase 1, regulatory subunit 49]",axin 1,gene with protein product,16p13.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:10700176],603816,ENSG00000103126,,O15169,O15169,HGNC:903 +GARD:0006608,Orphanet,210159,ORPHA:210159,9,CTNNB1,"[armadillo, beta-catenin]",catenin beta 1,gene with protein product,3p22.1,Candidate gene tested in,Not yet assessed,[PMID:10435629],116806,ENSG00000168036,,P35222,P35222,HGNC:2514 +GARD:0006608,Orphanet,210159,ORPHA:210159,9,EGF,[Pro-epidermal growth factor],epidermal growth factor,gene with protein product,4q25,Major susceptibility factor in,Assessed,[PMID:21440548],131530,ENSG00000138798,,P01133,P01133,HGNC:3229 +GARD:0006608,Orphanet,210159,ORPHA:210159,9,TSC1,"[KIAA0243, LAM, hamartin]",TSC complex subunit 1,gene with protein product,9q34,Candidate gene tested in,Assessed,[PMID:27974549],605284,ENSG00000165699,,Q92574,Q92574,HGNC:12362 +GARD:0006619,Orphanet,79273,ORPHA:79273,1,CPOX,"[CPX, HCP, coproporphyria, homozygous coproporphyria]",coproporphyrinogen oxidase,gene with protein product,3q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23236641],612732,ENSG00000080819,,P36551,P36551,HGNC:2321 +GARD:0006621,Orphanet,288,ORPHA:288,4,EPB41,[4.1R],erythrocyte membrane protein band 4.1,gene with protein product,1p35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23664421],130500,ENSG00000159023,3151,P11171,P11171,HGNC:3377 +GARD:0006621,Orphanet,288,ORPHA:288,4,GYPC,"[CD236, CD236R, GPC, GYPD, Ge]",glycophorin C (Gerbich blood group),gene with protein product,2q14.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:1884026, PMID:8353290]",110750,ENSG00000136732,,P04921,P04921,HGNC:4704 +GARD:0006621,Orphanet,288,ORPHA:288,4,SPTB,"[spherocytosis, clinical type I]","spectrin beta, erythrocytic",gene with protein product,14q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23664421],182870,ENSG00000070182,,P11277,P11277,HGNC:11274 +GARD:0006621,Orphanet,288,ORPHA:288,4,SPTA1,"[EL2, elliptocytosis 2]","spectrin alpha, erythrocytic 1",gene with protein product,1q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23664421],182860,ENSG00000163554,,P02549,P02549,HGNC:11272 +GARD:0006622,Orphanet,469,ORPHA:469,1,ALDOB,,"aldolase, fructose-bisphosphate B",gene with protein product,9q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20848650],612724,ENSG00000136872,,P05062,P05062,HGNC:417 +GARD:0006626,Orphanet,774,ORPHA:774,4,SMAD4,[DPC4],SMAD family member 4,gene with protein product,18q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301525],600993,ENSG00000141646,,Q13485,Q13485,HGNC:6770 +GARD:0006626,Orphanet,774,ORPHA:774,4,ENG,"[CD105, END, HHT1]",endoglin,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301525],131195,ENSG00000106991,2895,P17813,P17813,HGNC:3349 +GARD:0006626,Orphanet,774,ORPHA:774,4,GDF2,"[BMP-9, BMP9]",growth differentiation factor 2,gene with protein product,10q11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:23972370],605120,ENSG00000263761,,Q9UK05,Q9UK05,HGNC:4217 +GARD:0006626,Orphanet,774,ORPHA:774,4,ACVRL1,"[ALK1, HHT, HHT2, activin receptor-like kinase 1]",activin A receptor like type 1,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301525],601284,ENSG00000139567,1784,P37023,P37023,HGNC:175 +GARD:0006632,Orphanet,676,ORPHA:676,7,CASR,"[FHH, GPRC2A, NSHPT, severe neonatal hyperparathyroidism]",calcium sensing receptor,gene with protein product,3q13.33-q21.1,Candidate gene tested in,Not yet assessed,[PMID:26166472],601199,ENSG00000036828,54,P41180,P41180,HGNC:1514 +GARD:0006632,Orphanet,676,ORPHA:676,7,CTRC,"[CLCR, ELA4, caldecrin, chymotrypsinogen C, elastase 4]",chymotrypsin C,gene with protein product,1p36.21,Candidate gene tested in,Not yet assessed,"[PMID:18059268, PMID:22539344, PMID:23601753]",601405,ENSG00000162438,2341,Q99895,Q99895,HGNC:2523 +GARD:0006632,Orphanet,676,ORPHA:676,7,SPINK1,"[PCTT, PSTI, Spink3, TATI]",serine peptidase inhibitor Kazal type 1,gene with protein product,5q32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17274009],167790,ENSG00000164266,,P00995,,HGNC:11244 +GARD:0006632,Orphanet,676,ORPHA:676,7,PRSS1,,serine protease 1,gene with protein product,7q34,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:22379635, PMID:23864476]",276000,ENSG00000204983,2397,P07477,P07477,HGNC:9475 +GARD:0006632,Orphanet,676,ORPHA:676,7,PRSS2,"[TRY2, trypsin 2]",serine protease 2,gene with protein product,7q34,Candidate gene tested in,Not yet assessed,[PMID:18461367],601564,ENSG00000275896,2398,P07478,P07478,HGNC:9483 +GARD:0006632,Orphanet,676,ORPHA:676,7,CFTR,"[ABC35, ATP-binding cassette sub-family C, member 7, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1]",CF transmembrane conductance regulator,gene with protein product,7q31.2,Candidate gene tested in,Not yet assessed,[PMID:22572128],602421,ENSG00000001626,707,P13569,P13569,HGNC:1884 +GARD:0006632,Orphanet,676,ORPHA:676,7,CPA1,[pancreatic carboxypeptidase A],carboxypeptidase A1,gene with protein product,7q32.2,Major susceptibility factor in,Assessed,"[PMID:23955596, PMID:24522117]",114850,ENSG00000091704,1587,P15085,,HGNC:2296 +GARD:0006635,Orphanet,36386,ORPHA:36386,4,ATL3,[DKFZP564J0863],atlastin GTPase 3,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24459106],609369,ENSG00000184743,,Q6DD88,,HGNC:24526 +GARD:0006635,Orphanet,36386,ORPHA:36386,4,SPTLC2,"[KIAA0526, LCB2, LCB2A, hLCB2a]",serine palmitoyltransferase long chain base subunit 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20920666],605713,ENSG00000100596,2510,O15270,O15270,HGNC:11278 +GARD:0006635,Orphanet,36386,ORPHA:36386,4,SPTLC1,"[HSAN1, LCB1, SPTI, hLCB1]",serine palmitoyltransferase long chain base subunit 1,gene with protein product,9q22.31,Disease-causing germline mutation(s) in,Assessed,[PMID:11242114],605712,ENSG00000090054,2509,O15269,O15269,HGNC:11277 +GARD:0006635,Orphanet,36386,ORPHA:36386,4,ATL1,"[AD-FSP, FSP1, atlastin]",atlastin GTPase 1,gene with protein product,14q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21194679],606439,ENSG00000198513,,Q8WXF7,Q8WXF7,HGNC:11231 +GARD:0006639,Orphanet,822,ORPHA:822,5,EPB42,"[Erythrocyte surface protein band 4.2, MGC116735, MGC116737, PA]",erythrocyte membrane protein band 4.2,gene with protein product,15q15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23664421],177070,ENSG00000166947,,P16452,,HGNC:3381 +GARD:0006639,Orphanet,822,ORPHA:822,5,ANK1,[SPH1],ankyrin 1,gene with protein product,8p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:23664421],612641,ENSG00000029534,,P16157,P16157,HGNC:492 +GARD:0006639,Orphanet,822,ORPHA:822,5,SPTB,"[spherocytosis, clinical type I]","spectrin beta, erythrocytic",gene with protein product,14q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23664421],182870,ENSG00000070182,,P11277,P11277,HGNC:11274 +GARD:0006639,Orphanet,822,ORPHA:822,5,SPTA1,"[EL2, elliptocytosis 2]","spectrin alpha, erythrocytic 1",gene with protein product,1q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23664421],182860,ENSG00000163554,,P02549,P02549,HGNC:11272 +GARD:0006639,Orphanet,822,ORPHA:822,5,SLC4A1,"[CD233, FR, Froese blood group, RTA1A, SW, Swann blood group, WR, Wright blood group]",solute carrier family 4 member 1 (Diego blood group),gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:23664421],109270,ENSG00000004939,904,P02730,P02730,HGNC:11027 +GARD:0006649,Orphanet,1930,ORPHA:1930,5,TICAM1,"[MGC35334, PRVTIRB, TICAM-1, TIR domain-containing adapter molecule 1, TIR domain-containing adaptor-inducing interferon-ß, TRIF]",toll like receptor adaptor molecule 1,gene with protein product,19p13.3,Major susceptibility factor in,Assessed,[PMID:22105173],607601,ENSG00000127666,,Q8IUC6,Q8IUC6,HGNC:18348 +GARD:0006649,Orphanet,1930,ORPHA:1930,5,TRAF3,"[CAP-1, CD40bp, CRAF1, LAP1, RNF118]",TNF receptor associated factor 3,gene with protein product,14q32.32,Major susceptibility factor in,Assessed,[PMID:20832341],601896,ENSG00000131323,,Q13114,Q13114,HGNC:12033 +GARD:0006649,Orphanet,1930,ORPHA:1930,5,UNC93B1,[UNC93],"unc-93 homolog B1, TLR signaling regulator",gene with protein product,11q13.2,Major susceptibility factor in,Assessed,[PMID:16973841],608204,ENSG00000110057,,Q9H1C4,Q9H1C4,HGNC:13481 +GARD:0006649,Orphanet,1930,ORPHA:1930,5,TLR3,[CD283],toll like receptor 3,gene with protein product,4q35.1,Major susceptibility factor in,Assessed,[PMID:17872438],603029,ENSG00000164342,1753,O15455,O15455,HGNC:11849 +GARD:0006649,Orphanet,1930,ORPHA:1930,5,TBK1,[NAK],TANK binding kinase 1,gene with protein product,12q14.2,Major susceptibility factor in,Assessed,[PMID:22851595],604834,ENSG00000183735,2237,Q9UHD2,Q9UHD2,HGNC:11584 +GARD:0006660,Orphanet,388,ORPHA:388,14,NRTN,"[NTN, prepro-neurturin]",neurturin,gene with protein product,19p13.3,Major susceptibility factor in,Assessed,[PMID:20301612],602018,ENSG00000171119,,Q99748,Q99748,HGNC:8007 +GARD:0006660,Orphanet,388,ORPHA:388,14,GDNF,"[ATF1, ATF2, HFB1-GDNF, astrocyte-derived trophic factor, glial cell line derived neurotrophic factor, glial derived neurotrophic factor]",glial cell derived neurotrophic factor,gene with protein product,5p13.2,Major susceptibility factor in,Assessed,[PMID:20301612],600837,ENSG00000168621,,P39905,P39905,HGNC:4232 +GARD:0006660,Orphanet,388,ORPHA:388,14,ECE1,,endothelin converting enzyme 1,gene with protein product,1p36.12,Major susceptibility factor in,Assessed,[PMID:20301612],600423,ENSG00000117298,1615,P42892,P42892,HGNC:3146 +GARD:0006660,Orphanet,388,ORPHA:388,14,SEMA3C,[SemE],semaphorin 3C,gene with protein product,7q21.11,Major susceptibility factor in,Assessed,[PMID:25839327],602645,ENSG00000075223,,Q99985,,HGNC:10725 +GARD:0006660,Orphanet,388,ORPHA:388,14,ERBB2,"[CD340, HER-2, HER2, NEU, human epidermal growth factor receptor 2, neuro/glioblastoma derived oncogene homolog]",erb-b2 receptor tyrosine kinase 2,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:33497358],164870,ENSG00000141736,2019,P04626,,HGNC:3430 +GARD:0006660,Orphanet,388,ORPHA:388,14,EDN3,[ET3],endothelin 3,gene with protein product,20q13.32,Major susceptibility factor in,Assessed,[PMID:20301612],131242,ENSG00000124205,,P14138,P14138,HGNC:3178 +GARD:0006660,Orphanet,388,ORPHA:388,14,RET,"[CDHF12, CDHR16, PTC, RET receptor tyrosine kinase, RET51, cadherin-related family member 16, rearranged during transfection]",ret proto-oncogene,gene with protein product,10q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:31609069],164761,ENSG00000165731,2185,P07949,P07949,HGNC:9967 +GARD:0006660,Orphanet,388,ORPHA:388,14,SEMA3D,"[Sema-Z2, coll-2]",semaphorin 3D,gene with protein product,7q21.11,Major susceptibility factor in,Assessed,[PMID:25839327],609907,ENSG00000153993,,O95025,,HGNC:10726 +GARD:0006660,Orphanet,388,ORPHA:388,14,ABCD1,"[ALDP, AMN, adrenoleukodystrophy]",ATP binding cassette subfamily D member 1,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:33151932],300371,ENSG00000101986,788,P33897,P33897,HGNC:61 +GARD:0006660,Orphanet,388,ORPHA:388,14,ERBB3,"[HER3, human epidermal growth factor receptor 3]",erb-b2 receptor tyrosine kinase 3,gene with protein product,12q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:33497358],190151,ENSG00000065361,1798,P21860,P21860,HGNC:3431 +GARD:0006660,Orphanet,388,ORPHA:388,14,SMO,"[FZD11, frizzled family member 11]","smoothened, frizzled class receptor",gene with protein product,7q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:32413283],601500,ENSG00000128602,239,Q99835,Q99835,HGNC:11119 +GARD:0006660,Orphanet,388,ORPHA:388,14,EDNRB,[ETB],endothelin receptor type B,gene with protein product,13q22.3,Major susceptibility factor in,Assessed,[PMID:20301612],131244,ENSG00000136160,220,P24530,P24530,HGNC:3180 +GARD:0006660,Orphanet,388,ORPHA:388,14,SREBF1,"[SREBP-1c, SREBP1, SREBP1a, bHLHd1]",sterol regulatory element binding transcription factor 1,gene with protein product,17p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:33151932],184756,ENSG00000072310,,P36956,,HGNC:11289 +GARD:0006660,Orphanet,388,ORPHA:388,14,ATP7A,"[copper pump 1, copper-transporting ATPase 1]",ATPase copper transporting alpha,gene with protein product,Xq21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:33151932],300011,ENSG00000165240,852,Q04656,Q04656,HGNC:869 +GARD:0006661,Orphanet,2157,ORPHA:2157,1,HAL,,histidine ammonia-lyase,gene with protein product,12q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:15806399],609457,ENSG00000084110,,P42357,P42357,HGNC:4806 +GARD:0006666,Orphanet,392,ORPHA:392,1,TBX5,,T-box transcription factor 5,gene with protein product,12q24.21,Disease-causing germline mutation(s) in,Assessed,[PMID:20301290],601620,ENSG00000089225,,Q99593,Q99593,HGNC:11604 +GARD:0006667,Orphanet,394,ORPHA:394,1,CBS,[HIP4],cystathionine beta-synthase,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301697],613381,ENSG00000160200,1443,P35520,P35520,HGNC:1550 +GARD:0006677,Orphanet,399,ORPHA:399,2,HTT,[IT15],huntingtin,gene with protein product,4p16.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:20301482, PMID:21566141]",613004,ENSG00000197386,,P42858,P42858,HGNC:4851 +GARD:0006677,Orphanet,399,ORPHA:399,2,SLC2A3,,solute carrier family 2 member 3,gene with protein product,12p13.31,Modifying germline mutation in,Assessed,[PMID:24452335],138170,ENSG00000059804,877,P11169,P11169,HGNC:11007 +GARD:0006681,Orphanet,2177,ORPHA:2177,1,NDE1,"[FLJ20101, NDE, NUDE, nudE]",nudE neurodevelopment protein 1,gene with protein product,16p13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:22526350],609449,ENSG00000072864,,Q9NXR1,Q9NXR1,HGNC:17619 +GARD:0006683,Orphanet,2189,ORPHA:2189,2,HYLS1,[FLJ32915],HYLS1 centriolar and ciliogenesis associated,gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15843405, PMID:18648327]",610693,ENSG00000198331,,Q96M11,Q96M11,HGNC:26558 +GARD:0006683,Orphanet,2189,ORPHA:2189,2,KIF7,[JBTS12],kinesin family member 7,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21552264],611254,ENSG00000166813,,Q2M1P5,Q2M1P5,HGNC:30497 +GARD:0006703,Orphanet,412,ORPHA:412,1,APOE,,apolipoprotein E,gene with protein product,19q13.32,Major susceptibility factor in,Assessed,"[PMID:21463987, PMID:24405372]",107741,ENSG00000130203,,P02649,P02649,HGNC:613 +GARD:0006704,Orphanet,530849,ORPHA:530849,1,APOA5,"[APOA-V, RAP3]",apolipoprotein A5,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:25732519, PMID:29980054]",606368,ENSG00000110243,,Q6Q788,Q6Q788,HGNC:17288 +GARD:0006710,Orphanet,79101,ORPHA:79101,1,ALDH4A1,"[Delta-1-pyrroline-5-carboxylate dehydrogenase, L-glutamate gamma-semialdehyde dehydrogenase, P5CDh]",aldehyde dehydrogenase 4 family member A1,gene with protein product,1p36.13,Disease-causing germline mutation(s) in,Assessed,[PMID:9700195],606811,ENSG00000159423,,P30038,P30038,HGNC:406 +GARD:0006724,Orphanet,429,ORPHA:429,1,FGFR3,"[CD333, CEK2, JTK4]",fibroblast growth factor receptor 3,gene with protein product,4p16.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:20301650, PMID:23149434]",134934,ENSG00000068078,1810,P22607,P22607,HGNC:3690 +GARD:0006725,Orphanet,36412,ORPHA:36412,1,DNASE1L3,"[DNAS1L3, DNase gamma, LSD]",deoxyribonuclease 1 like 3,gene with protein product,3p14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23666765],602244,ENSG00000163687,,Q13609,,HGNC:2959 +GARD:0006729,Orphanet,681,ORPHA:681,3,SCN4A,"[HYPP, Nav1.4, SkM1]",sodium voltage-gated channel alpha subunit 4,gene with protein product,17q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301512],603967,ENSG00000007314,581,P35499,P35499,HGNC:10591 +GARD:0006729,Orphanet,681,ORPHA:681,3,KCNE3,"[HOKPP, MiRP2]",potassium voltage-gated channel subfamily E regulatory subunit 3,gene with protein product,11q13.4,Candidate gene tested in,Not yet assessed,"[PMID:14504341, PMID:15037713]",604433,ENSG00000175538,,Q9Y6H6,Q9Y6H6,HGNC:6243 +GARD:0006729,Orphanet,681,ORPHA:681,3,CACNA1S,"[Cav1.1, hypoPP]",calcium voltage-gated channel subunit alpha1 S,gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301512],114208,ENSG00000081248,528,Q13698,Q13698,HGNC:1397 +GARD:0006737,Orphanet+OMIM,312000,OMIM:312000,1,SOX3,,SRY-box transcription factor 3,gene with protein product,Xq27.1,The molecular basis of the disorder is known,Unknown,,313430,ENSG00000134595,,P41225,P41225,HGNC:11199 +GARD:0006739,Orphanet,2248,ORPHA:2248,2,GJA1,"[CX43, ODD, ODOD, SDTY3, connexin 43, oculodentodigital dysplasia (syndactyly type III)]",gap junction protein alpha 1,gene with protein product,6q22.31,Major susceptibility factor in,Assessed,"[PMID:11470490, PMID:19298922, PMID:19683641]",121014,ENSG00000152661,728,P17302,P17302,HGNC:4274 +GARD:0006739,Orphanet,2248,ORPHA:2248,2,NKX2-5,"[CSX1, NKX2.5, NKX4-1, tinman (Drosophila) homolog, tinman paralog (Drosophila)]",NK2 homeobox 5,gene with protein product,5q34,Major susceptibility factor in,Assessed,"[PMID:12798584, PMID:14607454, PMID:20456451]",600584,ENSG00000183072,,P52952,P52952,HGNC:2488 +GARD:0006749,Orphanet,576,ORPHA:576,1,GNPTAB,"[KIAA1208, MGC4170]",N-acetylglucosamine-1-phosphate transferase subunits alpha and beta,gene with protein product,12q23.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18425436],607840,ENSG00000111670,,Q3T906,Q3T906,HGNC:29670 +GARD:0006760,Orphanet,85193,ORPHA:85193,3,WNT3A,,Wnt family member 3A,gene with protein product,1q42.13,Major susceptibility factor in,Assessed,[PMID:22789636],606359,ENSG00000154342,,P56704,P56704,HGNC:15983 +GARD:0006760,Orphanet,85193,ORPHA:85193,3,DKK1,"[DKK-1, SK]",dickkopf WNT signaling pathway inhibitor 1,gene with protein product,10q21.1,Major susceptibility factor in,Assessed,[PMID:22789636],605189,ENSG00000107984,,O94907,O94907,HGNC:2891 +GARD:0006760,Orphanet,85193,ORPHA:85193,3,WNT1,,Wnt family member 1,gene with protein product,12q13.12,Major susceptibility factor in,Assessed,[PMID:23499309],164820,ENSG00000125084,,P04628,P04628,HGNC:12774 +GARD:0006778,Orphanet,464,ORPHA:464,1,IKBKG,"[FIP-3, FIP3, Fip3p, IKK-gamma, NEMO, ZC2HC9]",inhibitor of nuclear factor kappa B kinase regulatory subunit gamma,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301645],300248,ENSG00000269335,,Q9Y6K9,Q9Y6K9,HGNC:5961 +GARD:0006795,Orphanet,97548,ORPHA:97548,1,GDF1,,growth differentiation factor 1,gene with protein product,19p13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20413652],602880,ENSG00000130283,,P27539,P27539,HGNC:4214 +GARD:0006796,Orphanet,1540,ORPHA:1540,1,FGFR2,"[CD332, CEK3, Crouzon syndrome, ECT1, K-SAM, Pfeiffer syndrome, TK14, TK25]",fibroblast growth factor receptor 2,gene with protein product,10q26.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301628, PMID:21438135]",176943,ENSG00000066468,1809,P21802,P21802,HGNC:3689 +GARD:0006798,Orphanet,2311,ORPHA:2311,5,LFNG,[SCDO3],LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase,gene with protein product,7p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301771],602576,ENSG00000106003,,Q8NES3,Q8NES3,HGNC:6560 +GARD:0006798,Orphanet,2311,ORPHA:2311,5,DLL3,[SCDO1],delta like canonical Notch ligand 3,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301771],602768,ENSG00000090932,,Q9NYJ7,,HGNC:2909 +GARD:0006798,Orphanet,2311,ORPHA:2311,5,MESP2,"[SCDO2, bHLHc6]",mesoderm posterior bHLH transcription factor 2,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301771],605195,ENSG00000188095,,Q0VG99,,HGNC:29659 +GARD:0006798,Orphanet,2311,ORPHA:2311,5,HES7,"[bHLH factor Hes7, bHLHb37]",hes family bHLH transcription factor 7,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301771],608059,ENSG00000179111,,Q9BYE0,Q9BYE0,HGNC:15977 +GARD:0006798,Orphanet,2311,ORPHA:2311,5,RIPPLY2,[dJ237I15.1],ripply transcriptional repressor 2,gene with protein product,6q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25343988],609891,ENSG00000203877,,Q5TAB7,Q5TAB7,HGNC:21390 +GARD:0006800,Orphanet,2314,ORPHA:2314,1,STAT3,[APRF],signal transducer and activator of transcription 3,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:17676033, PMID:17881745]",102582,ENSG00000168610,2994,P40763,P40763,HGNC:11364 +GARD:0006802,Orphanet,475,ORPHA:475,22,MKS1,"[BBS13, FLJ20345, POC12, POC12 centriolar protein homolog (Chlamydomonas)]",MKS transition zone complex subunit 1,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,[PMID:24886560],609883,ENSG00000011143,,Q9NXB0,Q9NXB0,HGNC:7121 +GARD:0006802,Orphanet,475,ORPHA:475,22,ARMC9,"[ARM, FLJ12584, KIAA1868, KU-MEL-1]",armadillo repeat containing 9,gene with protein product,2q37.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28625504],617612,ENSG00000135931,,Q7Z3E5,,HGNC:20730 +GARD:0006802,Orphanet,475,ORPHA:475,22,TCTN1,"[FLJ21127, JBTS13, TECT1]",tectonic family member 1,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301500, PMID:21725307]",609863,ENSG00000204852,,Q2MV58,Q2MV58,HGNC:26113 +GARD:0006802,Orphanet,475,ORPHA:475,22,CBY1,"[Cby, Chibby, Chibby1, PIGEA-14, PIGEA14, chibby CTNNB1-mediated transcription inhibitor]","chibby family member 1, beta catenin antagonist",gene with protein product,22q13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:33131181],607757,ENSG00000100211,,Q9Y3M2,,HGNC:1307 +GARD:0006802,Orphanet,475,ORPHA:475,22,KIAA0586,"[JBTS23, Talpid3]",KIAA0586,gene with protein product,14q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26096313],610178,ENSG00000100578,,Q9BVV6,,HGNC:19960 +GARD:0006802,Orphanet,475,ORPHA:475,22,KATNIP,"[JBTS26, KATNIP]",katanin interacting protein,gene with protein product,16p12.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26714646],616650,ENSG00000047578,,O60303,,HGNC:29068 +GARD:0006802,Orphanet,475,ORPHA:475,22,CEP104,"[CFAP256, GlyBP, JBTS25, ROC22, RP1-286D6.4, glycine, glutamate, thienylcyclohexylpiperidine binding protein]",centrosomal protein 104,gene with protein product,1p36.32,Disease-causing germline mutation(s) in,Assessed,[PMID:26477546],616690,ENSG00000116198,,O60308,,HGNC:24866 +GARD:0006802,Orphanet,475,ORPHA:475,22,CEP120,[FLJ36090],centrosomal protein 120,gene with protein product,5q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27208211],613446,ENSG00000168944,,Q8N960,,HGNC:26690 +GARD:0006802,Orphanet,475,ORPHA:475,22,HYLS1,[FLJ32915],HYLS1 centriolar and ciliogenesis associated,gene with protein product,11q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26830932],610693,ENSG00000198331,,Q96M11,Q96M11,HGNC:26558 +GARD:0006802,Orphanet,475,ORPHA:475,22,INPP5E,"[CORS1, PPI5PIV, pharbin]",inositol polyphosphate-5-phosphatase E,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19668216],613037,ENSG00000148384,1456,Q9NRR6,Q9NRR6,HGNC:21474 +GARD:0006802,Orphanet,475,ORPHA:475,22,ARL3,[ARFL3],ADP ribosylation factor like GTPase 3,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,[PMID:30269812],604695,ENSG00000138175,,P36405,P36405,HGNC:694 +GARD:0006802,Orphanet,475,ORPHA:475,22,AHI1,"[FLJ20069, JBTS3, Jouberin, ORF1]",Abelson helper integration site 1,gene with protein product,6q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22693042],608894,ENSG00000135541,,Q8N157,Q8N157,HGNC:21575 +GARD:0006802,Orphanet,475,ORPHA:475,22,PIBF1,"[CEP90, PIBF, progesterone-induced blocking factor 1]",progesterone immunomodulatory binding factor 1,gene with protein product,13q21.33-q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26167768],607532,ENSG00000083535,,Q8WXW3,,HGNC:23352 +GARD:0006802,Orphanet,475,ORPHA:475,22,CSPP1,"[CSPP, CSPP-L, FLJ22490, JBTS21]",centrosome and spindle pole associated protein 1,gene with protein product,8q13.1-q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:24360803, PMID:24360808]",611654,ENSG00000104218,,Q1MSJ5,,HGNC:26193 +GARD:0006802,Orphanet,475,ORPHA:475,22,B9D1,"[B9, EPPB9, MKS9, MKSR-1, endothelial precursor protein B9]",B9 domain containing 1,gene with protein product,17p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24886560],614144,ENSG00000108641,,Q9UPM9,Q9UPM9,HGNC:24123 +GARD:0006802,Orphanet,475,ORPHA:475,22,SUFU,"[PRO1280, SUFUH, SUFUXL]",SUFU negative regulator of hedgehog signaling,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,[PMID:33024317],607035,ENSG00000107882,,Q9UMX1,Q9UMX1,HGNC:16466 +GARD:0006802,Orphanet,475,ORPHA:475,22,CPLANE1,"[FLJ13231, Hug, JBTS17]",ciliogenesis and planar polarity effector complex subunit 1,gene with protein product,5p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22425360, PMID:22693042]",614571,ENSG00000197603,,Q9H799,,HGNC:25801 +GARD:0006802,Orphanet,475,ORPHA:475,22,TMEM237,[JBTS14],transmembrane protein 237,gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:22152675, PMID:22693042]",614423,ENSG00000155755,,Q96Q45,,HGNC:14432 +GARD:0006802,Orphanet,475,ORPHA:475,22,ARL13B,"[DKFZp761H079, JBTS8]",ADP ribosylation factor like GTPase 13B,gene with protein product,3q11.1-q11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:18674751, PMID:20301500]",608922,ENSG00000169379,,Q3SXY8,Q3SXY8,HGNC:25419 +GARD:0006802,Orphanet,475,ORPHA:475,22,CEP41,"[DKFZp762H1311, FLJ22445, JBTS15]",centrosomal protein 41,gene with protein product,7q32.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22246503],610523,ENSG00000106477,,Q9BYV8,Q9BYV8,HGNC:12370 +GARD:0006802,Orphanet,475,ORPHA:475,22,TMEM67,"[JBTS6, MGC26979, Meckelin, NPHP11]",transmembrane protein 67,gene with protein product,8q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17160906],609884,ENSG00000164953,,Q5HYA8,Q5HYA8,HGNC:28396 +GARD:0006802,Orphanet,475,ORPHA:475,22,TCTN2,"[FLJ12975, JBTS24, MKS8, Meckel syndrome, type 8, TECT2]",tectonic family member 2,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,[PMID:21565611],613846,ENSG00000168778,,Q96GX1,Q96GX1,HGNC:25774 +GARD:0006807,Orphanet,2176,ORPHA:2176,1,ANTXR2,"[CMG-2, CMG2, FLJ31074, capillary morphogenesis protein 2]",ANTXR cell adhesion molecule 2,gene with protein product,4q21.21,Disease-causing germline mutation(s) in,Assessed,[PMID:14508707],608041,ENSG00000163297,,P58335,P58335,HGNC:21732 +GARD:0006808,Orphanet,307,ORPHA:307,8,EFHC1,"[FLJ10466, POC9, RIB72, myoclonin-1]",EF-hand domain containing 1,gene with protein product,6p12.2,Major susceptibility factor in,Assessed,[PMID:23756480],608815,ENSG00000096093,,Q5JVL4,Q5JVL4,HGNC:16406 +GARD:0006808,Orphanet,307,ORPHA:307,8,KCNQ3,[Kv7.3],potassium voltage-gated channel subfamily Q member 3,gene with protein product,8q24.22,Major susceptibility factor in,Assessed,[PMID:12928862],602232,ENSG00000184156,562,O43525,O43525,HGNC:6297 +GARD:0006808,Orphanet,307,ORPHA:307,8,CLCN2,"[CLC2, ClC-2, EJM6]",chloride voltage-gated channel 2,gene with protein product,3q27.1,Major susceptibility factor in,Assessed,"[PMID:12612585, PMID:19191339, PMID:23756480]",600570,ENSG00000114859,699,P51788,P51788,HGNC:2020 +GARD:0006808,Orphanet,307,ORPHA:307,8,CILK1,"[KIAA0936, LCK2, MAK-related kinase, MGC46090, MRK, serine/threonine-protein kinase ICK]",ciliogenesis associated kinase 1,gene with protein product,6p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29539279],612325,ENSG00000112144,2038,Q9UPZ9,Q9UPZ9,HGNC:21219 +GARD:0006808,Orphanet,307,ORPHA:307,8,CACNB4,[EJM4],calcium voltage-gated channel auxiliary subunit beta 4,gene with protein product,2q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23756480],601949,ENSG00000182389,,O00305,O00305,HGNC:1404 +GARD:0006808,Orphanet,307,ORPHA:307,8,JRK,"[JH8, jerky]",Jrk helix-turn-helix protein,gene with protein product,8q24.3,Candidate gene tested in,Not yet assessed,[PMID:11463517],603210,ENSG00000234616,,O75564,O75564,HGNC:6199 +GARD:0006808,Orphanet,307,ORPHA:307,8,GABRD,"[GABA(A) receptor, delta]",gamma-aminobutyric acid type A receptor subunit delta,gene with protein product,1p36.33,Major susceptibility factor in,Assessed,[PMID:23756480],137163,ENSG00000187730,416,O14764,,HGNC:4084 +GARD:0006808,Orphanet,307,ORPHA:307,8,GABRA1,"[EJM5, GABA(A) receptor, alpha 1]",gamma-aminobutyric acid type A receptor subunit alpha1,gene with protein product,5q34,Disease-causing germline mutation(s) in,Assessed,[PMID:23756480],137160,ENSG00000022355,404,P14867,P14867,HGNC:4075 +GARD:0006810,Orphanet,2322,ORPHA:2322,2,KMT2D,"[ALR, CAGL114, MLL4, histone-lysine N-methyltransferase 2D]",lysine methyltransferase 2D,gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:21882399],602113,ENSG00000167548,2691,O14686,O14686,HGNC:7133 +GARD:0006810,Orphanet,2322,ORPHA:2322,2,KDM6A,,lysine demethylase 6A,gene with protein product,Xp11.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21882399, PMID:22197486]",300128,ENSG00000147050,2684,O15550,O15550,HGNC:12637 +GARD:0006817,Orphanet,480,ORPHA:480,3,RRM2B,[p53R2],ribonucleotide reductase regulatory TP53 inducible subunit M2B,gene with protein product,8q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21378381],604712,ENSG00000048392,2754,Q7LG56,Q7LG56,HGNC:17296 +GARD:0006817,Orphanet,480,ORPHA:480,3,MT-TL1,[TRNL1],mitochondrially encoded tRNA-Leu (UUA/G) 1,Non-coding RNA,mitochondria,Candidate gene tested in,Not yet assessed,,590050,ENSG00000209082,,,,HGNC:7490 +GARD:0006817,Orphanet,480,ORPHA:480,3,MT-ATP8,"[A6L, ATP8, URFA6L, mitochondrially encoded ATP synthase membrane subunit A6L]",mitochondrially encoded ATP synthase membrane subunit 8,gene with protein product,mitochondria,Candidate gene tested in,Not yet assessed,,516070,ENSG00000228253,809,P03928,P03928,HGNC:7415 +GARD:0006818,Orphanet,481,ORPHA:481,1,AR,"[AIS, HUMARA, Kennedy disease, NR3C4, SMAX1, testicular feminization]",androgen receptor,gene with protein product,Xq12,Disease-causing germline mutation(s) in,Assessed,,313700,ENSG00000169083,628,P10275,P10275,HGNC:644 +GARD:0006821,Orphanet,587,ORPHA:587,3,MLH1,"[FCC2, HNPCC, HNPCC2]",mutL homolog 1,gene with protein product,3p22.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15235030, PMID:25006859, PMID:25197397]",120436,ENSG00000076242,,P40692,P40692,HGNC:7127 +GARD:0006821,Orphanet,587,ORPHA:587,3,MSH6,,mutS homolog 6,gene with protein product,2p16.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:22734033, PMID:25006859]",600678,ENSG00000116062,,P52701,P52701,HGNC:7329 +GARD:0006821,Orphanet,587,ORPHA:587,3,MSH2,"[DNA mismatch repair protein Msh2, HNPCC, HNPCC1]",mutS homolog 2,gene with protein product,2p21-p16.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:14994245, PMID:15235030, PMID:25006859]",609309,ENSG00000095002,,P43246,P43246,HGNC:7325 +GARD:0006829,Orphanet,2340,ORPHA:2340,3,LRP1,"[APOER, CD91, LRP, LRP1A, transforming growth factor-β receptor type V, transforming growth factor-ß receptor type V]",LDL receptor related protein 1,gene with protein product,12q13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26142438],107770,ENSG00000123384,,Q07954,Q07954,HGNC:6692 +GARD:0006829,Orphanet,2340,ORPHA:2340,3,SAT1,"[SSAT, diamine N-acetyltransferase 1]",spermidine/spermine N1-acetyltransferase 1,gene with protein product,Xp22.11,Candidate gene tested in,Not yet assessed,[PMID:12215835],313020,ENSG00000130066,,P21673,P21673,HGNC:10540 +GARD:0006829,Orphanet,2340,ORPHA:2340,3,MBTPS2,"[S2P, site-2 protease]","membrane bound transcription factor peptidase, site 2",gene with protein product,Xp22.12,Disease-causing germline mutation(s) in,Assessed,[PMID:20672378],300294,ENSG00000012174,,O43462,O43462,HGNC:15455 +GARD:0006841,Orphanet,485,ORPHA:485,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:10406661, PMID:15895462]",120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0006845,Orphanet,228340,ORPHA:228340,1,CLN6,"[FLJ20561, HsT18960, nclf]",CLN6 transmembrane ER protein,gene with protein product,15q23,Disease-causing germline mutation(s) in,Assessed,[PMID:21990111],606725,ENSG00000128973,,Q9NWW5,Q9NWW5,HGNC:2077 +GARD:0006848,Orphanet,2363,ORPHA:2363,3,FGFR2,"[CD332, CEK3, Crouzon syndrome, ECT1, K-SAM, Pfeiffer syndrome, TK14, TK25]",fibroblast growth factor receptor 2,gene with protein product,10q26.13,Disease-causing germline mutation(s) in,Assessed,[PMID:16501574],176943,ENSG00000066468,1809,P21802,P21802,HGNC:3689 +GARD:0006848,Orphanet,2363,ORPHA:2363,3,FGFR3,"[CD333, CEK2, JTK4]",fibroblast growth factor receptor 3,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:16501574],134934,ENSG00000068078,1810,P22607,P22607,HGNC:3690 +GARD:0006848,Orphanet,2363,ORPHA:2363,3,FGF10,,fibroblast growth factor 10,gene with protein product,5p12,Disease-causing germline mutation(s) in,Assessed,[PMID:16630169],602115,ENSG00000070193,,O15520,O15520,HGNC:3666 +GARD:0006855,Orphanet,98818,ORPHA:98818,1,GRIN2A,[GluN2A],glutamate ionotropic receptor NMDA type subunit 2A,gene with protein product,16p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:23933818, PMID:23933819, PMID:23933820]",138253,ENSG00000183454,456,Q12879,Q12879,HGNC:4585 +GARD:0006858,Orphanet,389,ORPHA:389,3,NRAS,[N-ras],"NRAS proto-oncogene, GTPase",gene with protein product,1p13.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:27076591],164790,ENSG00000213281,2823,P01111,P01111,HGNC:7989 +GARD:0006858,Orphanet,389,ORPHA:389,3,BRAF,[BRAF1],"B-Raf proto-oncogene, serine/threonine kinase",gene with protein product,7q34,Disease-causing somatic mutation(s) in,Assessed,[PMID:22996177],164757,ENSG00000157764,1943,P15056,P15056,HGNC:1097 +GARD:0006858,Orphanet,389,ORPHA:389,3,MAP2K1,"[MAPKK1, MEK1]",mitogen-activated protein kinase kinase 1,gene with protein product,15q22.31,Disease-causing germline mutation(s) in,Assessed,[PMID:26980021],176872,ENSG00000169032,2062,Q02750,Q02750,HGNC:6840 +GARD:0006859,Orphanet,633,ORPHA:633,1,GHR,"[GHBP, growth hormone binding protein]",growth hormone receptor,gene with protein product,5p13.1-p12,Disease-causing germline mutation(s) in,Assessed,"[PMID:18406284, PMID:24664892]",600946,ENSG00000112964,1720,P10912,P10912,HGNC:4263 +GARD:0006860,Orphanet,503,ORPHA:503,1,FLNB,"[ABP-278, FH1, TABP, TAP, actin binding protein 278, beta filamin]",filamin B,gene with protein product,3p14.3,Disease-causing germline mutation(s) in,Assessed,,603381,ENSG00000136068,,O75369,O75369,HGNC:3755 +GARD:0006866,Orphanet,110,ORPHA:110,25,IFT74,"[CMG-1, CMG1, FLJ22621, capillary morphogenesis protein 1]",intraflagellar transport 74,gene with protein product,9p21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27486776],608040,ENSG00000096872,,Q96LB3,Q96LB3,HGNC:21424 +GARD:0006866,Orphanet,110,ORPHA:110,25,TTC8,"[BBS8, RP51]",tetratricopeptide repeat domain 8,gene with protein product,14q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301537],608132,ENSG00000165533,,Q8TAM2,Q8TAM2,HGNC:20087 +GARD:0006866,Orphanet,110,ORPHA:110,25,CEP290,"[3H11Ag, BBS14, Bardet-Biedl syndrome 14, CT87, FLJ13615, JBTS5, Joubert syndrome 5, KIAA0373, LCA10, MKS4, Meckel syndrome, type 4, NPHP6, POC3, POC3 centriolar protein homolog (Chlamydomonas), SLSN6, cancer/testis antigen 87, nephrocystin-6, rd16]",centrosomal protein 290,gene with protein product,12q21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301537],610142,ENSG00000198707,,O15078,O15078,HGNC:29021 +GARD:0006866,Orphanet,110,ORPHA:110,25,BBS9,"[B1, PTHB1, parathyroid hormone responsive B1 gene]",Bardet-Biedl syndrome 9,gene with protein product,7p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301537],607968,ENSG00000122507,,Q3SYG4,Q3SYG4,HGNC:30000 +GARD:0006866,Orphanet,110,ORPHA:110,25,LZTFL1,[BBS17],leucine zipper transcription factor like 1,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301537, PMID:22510444]",606568,ENSG00000163818,,Q9NQ48,Q9NQ48,HGNC:6741 +GARD:0006866,Orphanet,110,ORPHA:110,25,SCAPER,[Zfp291],S-phase cyclin A associated protein in the ER,gene with protein product,15q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30723319],611611,ENSG00000140386,,Q9BY12,,HGNC:13081 +GARD:0006866,Orphanet,110,ORPHA:110,25,BBS10,[FLJ23560],Bardet-Biedl syndrome 10,gene with protein product,12q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301537, PMID:23219996, PMID:23403234]",610148,ENSG00000179941,,Q8TAM1,Q8TAM1,HGNC:26291 +GARD:0006866,Orphanet,110,ORPHA:110,25,MKS1,"[BBS13, FLJ20345, POC12, POC12 centriolar protein homolog (Chlamydomonas)]",MKS transition zone complex subunit 1,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:18327255, PMID:20301537]",609883,ENSG00000011143,,Q9NXB0,Q9NXB0,HGNC:7121 +GARD:0006866,Orphanet,110,ORPHA:110,25,WDPCP,"[BBS15, CPLANE5, fritz, hFrtz]",WD repeat containing planar cell polarity effector,gene with protein product,2p15,Disease-causing germline mutation(s) in,Assessed,[PMID:20301537],613580,ENSG00000143951,,O95876,,HGNC:28027 +GARD:0006866,Orphanet,110,ORPHA:110,25,TRIM32,"[BBS11, HT2A, TATIP]",tripartite motif containing 32,gene with protein product,9q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301537],602290,ENSG00000119401,,Q13049,Q13049,HGNC:16380 +GARD:0006866,Orphanet,110,ORPHA:110,25,BBS2,,Bardet-Biedl syndrome 2,gene with protein product,16q13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301537],606151,ENSG00000125124,,Q9BXC9,Q9BXC9,HGNC:967 +GARD:0006866,Orphanet,110,ORPHA:110,25,BBS1,[FLJ23590],Bardet-Biedl syndrome 1,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301537],209901,ENSG00000174483,,Q8NFJ9,Q8NFJ9,HGNC:966 +GARD:0006866,Orphanet,110,ORPHA:110,25,SDCCAG8,"[BBS16, Bardet-Biedl syndrome 16, CCCAP, NPHP10, NY-CO-8, SLSN7, Senior-Loken syndrome 7, centrosomal colon cancer autoantigen protein, nephrocystin 10]",SHH signaling and ciliogenesis regulator SDCCAG8,gene with protein product,1q43-q44,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301537, PMID:20835237]",613524,ENSG00000054282,,Q86SQ7,Q86SQ7,HGNC:10671 +GARD:0006866,Orphanet,110,ORPHA:110,25,MKKS,,MKKS centrosomal shuttling protein,gene with protein product,20p12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301537],604896,ENSG00000125863,,Q9NPJ1,Q9NPJ1,HGNC:7108 +GARD:0006866,Orphanet,110,ORPHA:110,25,BBS12,"[FLJ35630, FLJ41559]",Bardet-Biedl syndrome 12,gene with protein product,4q27,Disease-causing germline mutation(s) in,Assessed,[PMID:20301537],610683,ENSG00000181004,,Q6ZW61,Q6ZW61,HGNC:26648 +GARD:0006866,Orphanet,110,ORPHA:110,25,ARL6,[RP55],ADP ribosylation factor like GTPase 6,gene with protein product,3q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301537],608845,ENSG00000113966,,Q9H0F7,Q9H0F7,HGNC:13210 +GARD:0006866,Orphanet,110,ORPHA:110,25,IFT27,"[BBS19, FAP156, RAYL]",intraflagellar transport 27,gene with protein product,22q12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24488770],615870,ENSG00000100360,,Q9BW83,Q9BW83,HGNC:18626 +GARD:0006866,Orphanet,110,ORPHA:110,25,NPHP1,"[JBTS4, SLSN1]",nephrocystin 1,gene with protein product,2q13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24746959],607100,ENSG00000144061,,O15259,O15259,HGNC:7905 +GARD:0006866,Orphanet,110,ORPHA:110,25,IFT172,"[BBS20, NPHP17, SLB, osm-1, wim, wimple homolog]",intraflagellar transport 172,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25168386],607386,ENSG00000138002,,Q9UG01,Q9UG01,HGNC:30391 +GARD:0006866,Orphanet,110,ORPHA:110,25,BBIP1,"[BBIP10, BBS18, bA348N5.3]",BBSome interacting protein 1,gene with protein product,10q25.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301537, PMID:24026985]",613605,ENSG00000214413,,A8MTZ0,A8MTZ0,HGNC:28093 +GARD:0006866,Orphanet,110,ORPHA:110,25,BBS7,"[BBS2L1, FLJ10715]",Bardet-Biedl syndrome 7,gene with protein product,4q27,Disease-causing germline mutation(s) in,Assessed,[PMID:20301537],607590,ENSG00000138686,,Q8IWZ6,Q8IWZ6,HGNC:18758 +GARD:0006866,Orphanet,110,ORPHA:110,25,BBS5,[DKFZp762I194],Bardet-Biedl syndrome 5,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301537],603650,ENSG00000163093,,Q8N3I7,Q8N3I7,HGNC:970 +GARD:0006866,Orphanet,110,ORPHA:110,25,BBS4,,Bardet-Biedl syndrome 4,gene with protein product,15q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301537],600374,ENSG00000140463,,Q96RK4,Q96RK4,HGNC:969 +GARD:0006866,Orphanet,110,ORPHA:110,25,CEP19,[MGC14126],centrosomal protein 19,gene with protein product,3q29,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29127258],615586,ENSG00000174007,,Q96LK0,Q96LK0,HGNC:28209 +GARD:0006866,Orphanet,110,ORPHA:110,25,CFAP418,"[BBS21, Bardet-Biedl syndrome 21, CORD16, FAP418, FLJ30600, MOT25, RP64, cone-rod dystrophy 16]",cilia and flagella associated protein 418,gene with protein product,8q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27008867],614477,ENSG00000156172,,Q96NL8,,HGNC:27232 +GARD:0006867,Orphanet,5,ORPHA:5,1,HADHA,"[GBP, LCEH, LCHAD, MTPA, gastrin-binding protein, long-chain 2-enoyl-CoA hydratase, long-chain-3-hydroxyacyl-CoA dehydrogenase, mitochondrial trifunctional protein, alpha subunit]",hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,,600890,ENSG00000084754,,P40939,P40939,HGNC:4801 +GARD:0006870,Orphanet,104,ORPHA:104,12,DNAJC30,,DnaJ heat shock protein family (Hsp40) member C30,gene with protein product,7q11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:33465056],618202,ENSG00000176410,,Q96LL9,,HGNC:16410 +GARD:0006870,Orphanet,104,ORPHA:104,12,MT-CYB,"[COB, CYTB, UQCR3]",mitochondrially encoded cytochrome b,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:20301353],516020,ENSG00000198727,,P00156,P00156,HGNC:7427 +GARD:0006870,Orphanet,104,ORPHA:104,12,MT-ND4,"[NAD4, NADH-ubiquinone oxidoreductase chain 4, ND4, complex I ND4 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:20301353],516003,ENSG00000198886,,P03905,P03905,HGNC:7459 +GARD:0006870,Orphanet,104,ORPHA:104,12,MT-ND2,"[NAD2, NADH-ubiquinone oxidoreductase chain 2, ND2, complex I ND2 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:20301353],516001,ENSG00000198763,,P03891,P03891,HGNC:7456 +GARD:0006870,Orphanet,104,ORPHA:104,12,NDUFS2,"[CI-49, NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial, complex I 49kDa subunit]",NADH:ubiquinone oxidoreductase core subunit S2,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28031252],602985,ENSG00000158864,,O75306,O75306,HGNC:7708 +GARD:0006870,Orphanet,104,ORPHA:104,12,MT-CO1,"[COI, COX1]",mitochondrially encoded cytochrome c oxidase I,gene with protein product,mitochondria,Candidate gene tested in,Not yet assessed,[PMID:1322638],516030,ENSG00000198804,,P00395,P00395,HGNC:7419 +GARD:0006870,Orphanet,104,ORPHA:104,12,MT-ND6,"[NAD6, NADH-ubiquinone oxidoreductase chain 6, ND6, complex I ND6 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:20301353],516006,ENSG00000198695,,P03923,P03923,HGNC:7462 +GARD:0006870,Orphanet,104,ORPHA:104,12,MT-ND5,"[NAD5, NADH-ubiquinone oxidoreductase chain 5, ND5, complex I ND5 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:20301353],516005,ENSG00000198786,,P03915,P03915,HGNC:7461 +GARD:0006870,Orphanet,104,ORPHA:104,12,MT-ND4L,"[NAD4L, NADH-ubiquinone oxidoreductase chain 4L, ND4L, complex I ND4L subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:20301353],516004,ENSG00000212907,,P03901,P03901,HGNC:7460 +GARD:0006870,Orphanet,104,ORPHA:104,12,MT-ND1,"[NAD1, NADH-ubiquinone oxidoreductase chain 1, ND1, complex I ND1 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:20301353],516000,ENSG00000198888,,P03886,P03886,HGNC:7455 +GARD:0006870,Orphanet,104,ORPHA:104,12,MT-CO3,"[CO3, COIII, COX3]",mitochondrially encoded cytochrome c oxidase III,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:20301353],516050,ENSG00000198938,,P00414,P00414,HGNC:7422 +GARD:0006870,Orphanet,104,ORPHA:104,12,MT-ATP6,"[ATP6, ATPase-6, Su6m, mitochondrially encoded ATP synthase membrane subunit a]",mitochondrially encoded ATP synthase membrane subunit 6,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:20301353],516060,ENSG00000198899,801,P00846,P00846,HGNC:7414 +GARD:0006874,Orphanet,2380,ORPHA:2380,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:17394019, PMID:18512791]",120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0006885,Orphanet,508,ORPHA:508,1,INSR,[CD220],insulin receptor,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:12023989],147670,ENSG00000171105,1800,P06213,P06213,HGNC:6091 +GARD:0006893,Orphanet,99842,ORPHA:99842,1,ITGB2,"[LFA-1, MAC-1, complement component 3 receptor 3 and 4 subunit]",integrin subunit beta 2,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,,600065,ENSG00000160255,2456,P05107,P05107,HGNC:6155 +GARD:0006901,Orphanet,65285,ORPHA:65285,1,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:14566704],601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0006902,Orphanet,524,ORPHA:524,4,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301488],191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0006902,Orphanet,524,ORPHA:524,4,CHEK2,"[CDS1, CHK2, HuCds1, PP1425, bA444G7]",checkpoint kinase 2,gene with protein product,22q12.1,Candidate gene tested in,Not yet assessed,"[PMID:11719428, PMID:20301488, PMID:21562711]",604373,ENSG00000183765,1988,O96017,O96017,HGNC:16627 +GARD:0006902,Orphanet,524,ORPHA:524,4,MDM2,"[HDM2, MGC5370]",MDM2 proto-oncogene,gene with protein product,12q15,Modifying germline mutation in,Assessed,[PMID:23884452],164785,ENSG00000135679,3136,Q00987,Q00987,HGNC:6973 +GARD:0006902,Orphanet,524,ORPHA:524,4,CDKN2A,"[ARF, CDK4I, CMM2, INK4, INK4a, MTS1, p14, p14ARF, p16, p16INK4a, p19, p19Arf]",cyclin dependent kinase inhibitor 2A,gene with protein product,9p21.3,Candidate gene tested in,Not yet assessed,"[PMID:28592523, PMID:29263814]",600160,ENSG00000147889,,P42771,P42771,HGNC:1787 +GARD:0006914,Orphanet,2148,ORPHA:2148,1,DCX,"[DBCN, DC, LISX, SCLH, XLIS, doublecortex]",doublecortin,gene with protein product,Xq23,Disease-causing germline mutation(s) in,Assessed,[PMID:20301364],300121,ENSG00000077279,,O43602,O43602,HGNC:2714 +GARD:0006944,Orphanet,98842,ORPHA:98842,2,NPM1,"['nucleophosmin/nucleoplasmin family, member 1', B23, NPM, Nucleophosmin/nucleoplasmin family, member 1, Numatrin, nucleolar phosphoprotein B23, numatrin]",nucleophosmin 1,gene with protein product,5q35.1,Part of a fusion gene in,Assessed,[PMID:25349176],164040,ENSG00000181163,,P06748,P06748,HGNC:7910 +GARD:0006944,Orphanet,98842,ORPHA:98842,2,TYK2,[JTK1],tyrosine kinase 2,gene with protein product,19p13.2,Part of a fusion gene in,Assessed,[PMID:25349176],176941,ENSG00000105397,2269,P29597,P29597,HGNC:12440 +GARD:0006950,Orphanet,60040,ORPHA:60040,1,PIK3CA,[PI3K],"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",gene with protein product,3q26.32,Disease-causing somatic mutation(s) in,Assessed,[PMID:22729224],171834,ENSG00000121879,2153,P42336,P42336,HGNC:8975 +GARD:0006953,Orphanet,98969,ORPHA:98969,1,CHST6,,carbohydrate sulfotransferase 6,gene with protein product,16q23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:11017086, PMID:19365571]",605294,ENSG00000183196,,Q9GZX3,Q9GZX3,HGNC:6938 +GARD:0006957,Orphanet,2398,ORPHA:2398,1,MFN2,"[CMT2A2, CPRP1, KIAA0214, MARF]",mitofusin 2,gene with protein product,1p36.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26085578],608507,ENSG00000116688,3131,O95140,O95140,HGNC:16877 +GARD:0006958,Orphanet,163634,ORPHA:163634,2,IDH2,,isocitrate dehydrogenase (NADP(+)) 2,gene with protein product,15q26.1,Disease-causing somatic mutation(s) in,Assessed,"[PMID:22057234, PMID:22057236]",147650,ENSG00000182054,2885,P48735,P48735,HGNC:5383 +GARD:0006958,Orphanet,163634,ORPHA:163634,2,IDH1,,isocitrate dehydrogenase (NADP(+)) 1,gene with protein product,2q34,Disease-causing somatic mutation(s) in,Assessed,"[PMID:22057234, PMID:22057236]",147700,ENSG00000138413,2884,O75874,O75874,HGNC:5382 +GARD:0006964,Orphanet,423,ORPHA:423,2,RYR1,"[PPP1R137, RYR, protein phosphatase 1, regulatory subunit 137]",ryanodine receptor 1,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301325],180901,ENSG00000196218,747,P21817,P21817,HGNC:10483 +GARD:0006964,Orphanet,423,ORPHA:423,2,CACNA1S,"[Cav1.1, hypoPP]",calcium voltage-gated channel subunit alpha1 S,gene with protein product,1q32.1,Major susceptibility factor in,Assessed,"[PMID:20301325, PMID:9175745, PMID:9199552]",114208,ENSG00000081248,528,Q13698,Q13698,HGNC:1397 +GARD:0006969,Orphanet,52416,ORPHA:52416,3,ATM,"[TEL1, TEL1, telomere maintenance 1, homolog (S. cerevisiae), TELO1]",ATM serine/threonine kinase,gene with protein product,11q22.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:10706620],607585,ENSG00000149311,1934,Q13315,Q13315,HGNC:795 +GARD:0006969,Orphanet,52416,ORPHA:52416,3,IGH,,immunoglobulin heavy locus,gene with protein product,14q32.33,Disease-causing somatic mutation(s) in,Assessed,"[PMID:11245476, PMID:12601901]",146910; 147010; 147070,,,Q6P089,,HGNC:5477 +GARD:0006969,Orphanet,52416,ORPHA:52416,3,CCND1,"[B-cell CLL/lymphoma 1, G1/S-specific cyclin D1, U21B31, parathyroid adenomatosis 1]",cyclin D1,gene with protein product,11q13.3,Disease-causing somatic mutation(s) in,Assessed,,168461,ENSG00000110092,,P24385,P24385,HGNC:1582 +GARD:0006973,Orphanet,2461,ORPHA:2461,1,PIEZO2,"[FLJ23144, FLJ23403, FLJ34907, HsT748, HsT771]",piezo type mechanosensitive ion channel component 2,gene with protein product,18p11.22-p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:24726473],613629,ENSG00000154864,2946,Q9H5I5,,HGNC:26270 +GARD:0006975,Orphanet,284963,ORPHA:284963,1,FBN1,"[MASS, Marfan syndrome, OCTD, SGS, asprosin]",fibrillin 1,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,,134797,ENSG00000166147,,P35555,P35555,HGNC:3603 +GARD:0006984,Orphanet,560,ORPHA:560,1,COL11A1,"[CO11A1, STL2, collagen XI, alpha-1 polypeptide]",collagen type XI alpha 1 chain,gene with protein product,1p21.1,Disease-causing germline mutation(s) in,Assessed,,120280,ENSG00000060718,,P12107,P12107,HGNC:2186 +GARD:0006985,Orphanet,561,ORPHA:561,1,NFIX,"[CCAAT-binding transcription factor, NF1A]",nuclear factor I X,gene with protein product,19p13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20673863],164005,ENSG00000008441,,Q14938,Q14938,HGNC:7788 +GARD:0006986,Orphanet,2466,ORPHA:2466,1,L1CAM,"[CAML1, CD171, NCAM-L1, neural cell adhesion molecule L1]",L1 cell adhesion molecule,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301657],308840,ENSG00000198910,,P32004,P32004,HGNC:6470 +GARD:0006995,Orphanet,562,ORPHA:562,1,GNAS,"[G protein subunit alpha S, GNASXL, GPSA, NESP, NESP55, SCG6, SgVI, secretogranin VI]",GNAS complex locus,gene with protein product,20q13.32,Disease-causing somatic mutation(s) in,Assessed,"[PMID:1594625, PMID:1944469]",139320,ENSG00000087460,,O95467; P63092; P84996; Q5JWF2,P63092,HGNC:4392 +GARD:0006996,Orphanet,175,ORPHA:175,1,RMRP,"[NME1, RMRPR, RRP2]",RNA component of mitochondrial RNA processing endoribonuclease,Non-coding RNA,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22420014],157660,ENSG00000277027,,,,HGNC:10031 +GARD:0007002,Orphanet,88949,ORPHA:88949,1,MUC1,"[ADMCKD, ADMCKD1, CD227, MCD, MCKD, PEM]","mucin 1, cell surface associated",gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:23396133, PMID:24509297]",158340,ENSG00000185499,,P15941,P15941,HGNC:7508 +GARD:0007006,Orphanet,35858,ORPHA:35858,2,CUBN,"[IFCR, gp280, intrinsic factor-cobalamin receptor]",cubilin,gene with protein product,10p13,Disease-causing germline mutation(s) in,Assessed,[PMID:10080186],602997,ENSG00000107611,,O60494,O60494,HGNC:2548 +GARD:0007006,Orphanet,35858,ORPHA:35858,2,AMN,[amnionless],amnion associated transmembrane protein,gene with protein product,14q32.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:21750092, PMID:26040326]",605799,ENSG00000166126,,Q9BXJ7,Q9BXJ7,HGNC:14604 +GARD:0007009,Orphanet,550,ORPHA:550,14,MT-TH,[trnH],mitochondrially encoded tRNA-His (CAU/C),Non-coding RNA,mitochondria,Candidate gene tested in,Not yet assessed,"[PMID:14967777, PMID:15111688]",590040,ENSG00000210176,,,,HGNC:7487 +GARD:0007009,Orphanet,550,ORPHA:550,14,MT-TW,[trnW],mitochondrially encoded tRNA-Trp (UGA/G),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:23696415],590095,ENSG00000210117,,,,HGNC:7501 +GARD:0007009,Orphanet,550,ORPHA:550,14,MT-TL1,[TRNL1],mitochondrially encoded tRNA-Leu (UUA/G) 1,Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:20301411],590050,ENSG00000209082,,,,HGNC:7490 +GARD:0007009,Orphanet,550,ORPHA:550,14,MT-TQ,[trnQ],mitochondrially encoded tRNA-Gln (CAA/G),Non-coding RNA,mitochondria,Candidate gene tested in,Not yet assessed,,590030,ENSG00000210107,,,,HGNC:7495 +GARD:0007009,Orphanet,550,ORPHA:550,14,MT-CO2,"[CO2, COX2]",mitochondrially encoded cytochrome c oxidase II,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:18245391],516040,ENSG00000198712,,P00403,P00403,HGNC:7421 +GARD:0007009,Orphanet,550,ORPHA:550,14,MT-TF,[trnF],mitochondrially encoded tRNA-Phe (UUU/C),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:9771776],590070,ENSG00000210049,,,,HGNC:7481 +GARD:0007009,Orphanet,550,ORPHA:550,14,MT-ND4,"[NAD4, NADH-ubiquinone oxidoreductase chain 4, ND4, complex I ND4 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,,516003,ENSG00000198886,,P03905,P03905,HGNC:7459 +GARD:0007009,Orphanet,550,ORPHA:550,14,MT-TS2,"[RP8, TRNS2]",mitochondrially encoded tRNA-Ser (AGU/C) 2,Non-coding RNA,mitochondria,Candidate gene tested in,Not yet assessed,[PMID:16950817],590085,ENSG00000210184,,,,HGNC:7498 +GARD:0007009,Orphanet,550,ORPHA:550,14,MT-ND6,"[NAD6, NADH-ubiquinone oxidoreductase chain 6, ND6, complex I ND6 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:11781695],516006,ENSG00000198695,,P03923,P03923,HGNC:7462 +GARD:0007009,Orphanet,550,ORPHA:550,14,MT-CO3,"[CO3, COIII, COX3]",mitochondrially encoded cytochrome c oxidase III,gene with protein product,mitochondria,Candidate gene tested in,Not yet assessed,[PMID:18587274],516050,ENSG00000198938,,P00414,P00414,HGNC:7422 +GARD:0007009,Orphanet,550,ORPHA:550,14,MT-ND1,"[NAD1, NADH-ubiquinone oxidoreductase chain 1, ND1, complex I ND1 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:15657614],516000,ENSG00000198888,,P03886,P03886,HGNC:7455 +GARD:0007009,Orphanet,550,ORPHA:550,14,MT-ND5,"[NAD5, NADH-ubiquinone oxidoreductase chain 5, ND5, complex I ND5 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:18587274, PMID:20301411]",516005,ENSG00000198786,,P03915,P03915,HGNC:7461 +GARD:0007009,Orphanet,550,ORPHA:550,14,MT-CO1,"[COI, COX1]",mitochondrially encoded cytochrome c oxidase I,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:19568996, PMID:22832341]",516030,ENSG00000198804,,P00395,P00395,HGNC:7419 +GARD:0007009,Orphanet,550,ORPHA:550,14,MT-TS1,[TRNS1],mitochondrially encoded tRNA-Ser (UCN) 1,Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:17894844],590080,ENSG00000210151,,,,HGNC:7497 +GARD:0007011,Orphanet,2484,ORPHA:2484,1,FLNA,"[ABP-280, actin binding protein 280, alpha filamin]",filamin A,gene with protein product,Xq28,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:20186808, PMID:21031081]",300017,ENSG00000196924,,P21333,P21333,HGNC:3754 +GARD:0007015,Orphanet,2495,ORPHA:2495,11,TERT,"[EST2, TCS1, TP2, TRT, hEST2]",telomerase reverse transcriptase,gene with protein product,5p15.33,Disease-causing somatic mutation(s) in,Assessed,"[PMID:29216385, PMID:29312603]",187270,ENSG00000164362,,O14746,O14746,HGNC:11730 +GARD:0007015,Orphanet,2495,ORPHA:2495,11,BAP1,"[KIAA0272, UCHL2, hucep-6, ubiquitin carboxy-terminal hydrolase]",BRCA1 associated protein 1,gene with protein product,3p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28170043],603089,ENSG00000163930,2332,Q92560,Q92560,HGNC:950 +GARD:0007015,Orphanet,2495,ORPHA:2495,11,BAP1,"[KIAA0272, UCHL2, hucep-6, ubiquitin carboxy-terminal hydrolase]",BRCA1 associated protein 1,gene with protein product,3p21.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:28170043],603089,ENSG00000163930,2332,Q92560,Q92560,HGNC:950 +GARD:0007015,Orphanet,2495,ORPHA:2495,11,AKT1,"[AKT, PKB, PRKBA, RAC, RAC-alpha, protein kinase B]",AKT serine/threonine kinase 1,gene with protein product,14q32.33,Disease-causing germline mutation(s) in,Assessed,[PMID:31750041],164730,ENSG00000142208,1479,P31749,P31749,HGNC:391 +GARD:0007015,Orphanet,2495,ORPHA:2495,11,PIK3CA,[PI3K],"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",gene with protein product,3q26.32,Disease-causing somatic mutation(s) in,Assessed,[PMID:26826201],171834,ENSG00000121879,2153,P42336,P42336,HGNC:8975 +GARD:0007015,Orphanet,2495,ORPHA:2495,11,NF2,"[ACN, BANF, Merlin, SCH, bilateral acoustic neurofibromatosis, merlin, merlin-1, moesin-ezrin-radixin like, schwannomin]","NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor",gene with protein product,22q12.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:8162072],607379,ENSG00000186575,,P35240,P35240,HGNC:7773 +GARD:0007015,Orphanet,2495,ORPHA:2495,11,TRAF7,"[DKFZp586I021, MGC7807, RNF119]",TNF receptor associated factor 7,gene with protein product,16p13.3,Disease-causing somatic mutation(s) in,Assessed,"[PMID:23334667, PMID:23348505]",606692,ENSG00000131653,,Q6Q0C0,,HGNC:20456 +GARD:0007015,Orphanet,2495,ORPHA:2495,11,SUFU,"[PRO1280, SUFUH, SUFUXL]",SUFU negative regulator of hedgehog signaling,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,[PMID:22958902],607035,ENSG00000107882,,Q9UMX1,Q9UMX1,HGNC:16466 +GARD:0007015,Orphanet,2495,ORPHA:2495,11,SMARCE1,[BAF57],"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1",gene with protein product,17q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23377182],603111,ENSG00000073584,,Q969G3,Q969G3,HGNC:11109 +GARD:0007015,Orphanet,2495,ORPHA:2495,11,PDGFB,"[SSV, becaplermin, oncogene SIS]",platelet derived growth factor subunit B,gene with protein product,22q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:2212004],190040,ENSG00000100311,,P01127,P01127,HGNC:8800 +GARD:0007015,Orphanet,2495,ORPHA:2495,11,SMO,"[FZD11, frizzled family member 11]","smoothened, frizzled class receptor",gene with protein product,7q32.1,Disease-causing somatic mutation(s) in,Assessed,"[PMID:23334667, PMID:23348505]",601500,ENSG00000128602,239,Q99835,Q99835,HGNC:11119 +GARD:0007015,Orphanet,2495,ORPHA:2495,11,SMARCB1,"[BAF47, Ini1, PPP1R144, RDT, SNF5, Sfh1p, Snr1, hSNFS, integrase interactor 1, malignant rhabdoid tumor suppressor, protein phosphatase 1, regulatory subunit 144, sucrose nonfermenting, yeast, homolog-like 1]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1",gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:20930055],601607,ENSG00000099956,,Q12824,Q12824,HGNC:11103 +GARD:0007026,Orphanet,50251,ORPHA:50251,1,BAP1,"[KIAA0272, UCHL2, hucep-6, ubiquitin carboxy-terminal hydrolase]",BRCA1 associated protein 1,gene with protein product,3p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27181379],603089,ENSG00000163930,2332,Q92560,Q92560,HGNC:950 +GARD:0007029,Orphanet,174,ORPHA:174,1,COL10A1,[Schmid metaphyseal chondrodysplasia],collagen type X alpha 1 chain,gene with protein product,6q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17403716],120110,ENSG00000123500,,Q03692,Q03692,HGNC:2185 +GARD:0007035,Orphanet,321,ORPHA:321,2,EXT2,"[Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, SOTV]",exostosin glycosyltransferase 2,gene with protein product,11p11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301413],608210,ENSG00000151348,,Q93063,Q93063,HGNC:3513 +GARD:0007035,Orphanet,321,ORPHA:321,2,EXT1,"[Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, ttv]",exostosin glycosyltransferase 1,gene with protein product,8q24.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301413],608177,ENSG00000182197,,Q16394,Q16394,HGNC:3512 +GARD:0007039,Orphanet,2290,ORPHA:2290,2,STX3,,syntaxin 3,gene with protein product,11q12.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24726755],600876,ENSG00000166900,,Q13277,Q13277,HGNC:11438 +GARD:0007039,Orphanet,2290,ORPHA:2290,2,MYO5B,[KIAA1119],myosin VB,gene with protein product,18q,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20186687],606540,ENSG00000167306,,Q9ULV0,Q9ULV0,HGNC:7603 +GARD:0007064,Orphanet,2573,ORPHA:2573,3,DIAPH1,"[LFHL1, hDIA1]",diaphanous related formin 1,gene with protein product,5q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:34125151],602121,ENSG00000131504,,O60610,O60610,HGNC:2876 +GARD:0007064,Orphanet,2573,ORPHA:2573,3,RNF213,"[ALK lymphoma oligomerization partner on chromosome 17, ALO17, KIAA1554, NET57, mysterin]",ring finger protein 213,gene with protein product,17q25.3,Major susceptibility factor in,Assessed,"[PMID:21048783, PMID:21799892, PMID:22377813]",613768,ENSG00000173821,,Q63HN8,Q63HN8,HGNC:14539 +GARD:0007064,Orphanet,2573,ORPHA:2573,3,ACTA2,[ACTSA],"actin alpha 2, smooth muscle",gene with protein product,10q23.31,Major susceptibility factor in,Assessed,"[PMID:19409525, PMID:20970362]",102620,ENSG00000107796,,P62736,P62736,HGNC:130 +GARD:0007071,Orphanet,79269,ORPHA:79269,1,SGSH,"[HSS, MPS3A, SFMD, mucopolysaccharidosis type IIIA, sulfamidase]",N-sulfoglucosamine sulfohydrolase,gene with protein product,17q25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:15146460],605270,ENSG00000181523,,P51688,P51688,HGNC:10818 +GARD:0007072,Orphanet,79270,ORPHA:79270,1,NAGLU,"[NAG, Sanfilippo disease IIIB]",N-acetyl-alpha-glucosaminidase,gene with protein product,17q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:16151907],609701,ENSG00000108784,,P54802,P54802,HGNC:7632 +GARD:0007073,Orphanet,79271,ORPHA:79271,1,HGSNAT,"[FLJ32731, HGNAT]",heparan-alpha-glucosaminide N-acetyltransferase,gene with protein product,8p11.21-p11.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17033958],610453,ENSG00000165102,,Q68CP4,Q68CP4,HGNC:26527 +GARD:0007074,Orphanet,79272,ORPHA:79272,1,GNS,"[N-acetylglucosamine-6-sulfatase, Sanfilippo disease IIID]",glucosamine (N-acetyl)-6-sulfatase,gene with protein product,12q14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12573255, PMID:17998446]",607664,ENSG00000135677,,P15586,P15586,HGNC:4422 +GARD:0007096,Orphanet,584,ORPHA:584,1,GUSB,,glucuronidase beta,gene with protein product,7q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:19224584],611499,ENSG00000169919,,P08236,P08236,HGNC:4696 +GARD:0007097,Orphanet,53271,ORPHA:53271,1,FGFR3,"[CD333, CEK2, JTK4]",fibroblast growth factor receptor 3,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301588, PMID:20301628, PMID:21438135]",134934,ENSG00000068078,1810,P22607,P22607,HGNC:3690 +GARD:0007108,Orphanet,29073,ORPHA:29073,1,CCND1,"[B-cell CLL/lymphoma 1, G1/S-specific cyclin D1, U21B31, parathyroid adenomatosis 1]",cyclin D1,gene with protein product,11q13.3,Major susceptibility factor in,Assessed,[PMID:23502783],168461,ENSG00000110092,,P24385,P24385,HGNC:1582 +GARD:0007111,Orphanet,2990,ORPHA:2990,2,CHRNG,"[acetylcholine receptor, nicotinic, gamma (muscle)]",cholinergic receptor nicotinic gamma subunit,gene with protein product,2q37.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22167768],100730,ENSG00000196811,475,P07510,P07510,HGNC:1967 +GARD:0007111,Orphanet,2990,ORPHA:2990,2,MYH3,"[HEMHC, MYHC-EMB, MYHSE1, SMHCE, muscle embryonic myosin heavy chain 3, myosin, skeletal, heavy chain, embryonic 1]",myosin heavy chain 3,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29805041],160720,ENSG00000109063,,P11055,P11055,HGNC:7573 +GARD:0007139,Orphanet,36899,ORPHA:36899,5,TOR1A,"[DQ2, torsin A]",torsin family 1 member A,gene with protein product,9q34.11,Candidate gene tested in,Not yet assessed,,605204,ENSG00000136827,,O14656,O14656,HGNC:3098 +GARD:0007139,Orphanet,36899,ORPHA:36899,5,DRD2,,dopamine receptor D2,gene with protein product,11q23.2,Candidate gene tested in,Not yet assessed,,126450,ENSG00000149295,215,P14416,P14416,HGNC:3023 +GARD:0007139,Orphanet,36899,ORPHA:36899,5,SGCE,,sarcoglycan epsilon,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,,604149,ENSG00000127990,,O43556,,HGNC:10808 +GARD:0007139,Orphanet,36899,ORPHA:36899,5,DYT15,,"dystonia 15, myoclonic",Disorder-associated locus,18p11,Role in the phenotype of,Assessed,,,,,,,HGNC:31376 +GARD:0007139,Orphanet,36899,ORPHA:36899,5,KCTD17,[FLJ12242],potassium channel tetramerization domain containing 17,gene with protein product,22q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25983243],616386,ENSG00000100379,,Q8N5Z5,Q8N5Z5,HGNC:25705 +GARD:0007144,Orphanet,551,ORPHA:551,10,MT-TL1,[TRNL1],mitochondrially encoded tRNA-Leu (UUA/G) 1,Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:8254046],590050,ENSG00000209082,,,,HGNC:7490 +GARD:0007144,Orphanet,551,ORPHA:551,10,MT-TQ,[trnQ],mitochondrially encoded tRNA-Gln (CAA/G),Non-coding RNA,mitochondria,Candidate gene tested in,Not yet assessed,[PMID:23179085],590030,ENSG00000210107,,,,HGNC:7495 +GARD:0007144,Orphanet,551,ORPHA:551,10,MT-TH,[trnH],mitochondrially encoded tRNA-His (CAU/C),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:14967777],590040,ENSG00000210176,,,,HGNC:7487 +GARD:0007144,Orphanet,551,ORPHA:551,10,MT-TF,[trnF],mitochondrially encoded tRNA-Phe (UUU/C),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:15184630],590070,ENSG00000210049,,,,HGNC:7481 +GARD:0007144,Orphanet,551,ORPHA:551,10,MT-TS2,"[RP8, TRNS2]",mitochondrially encoded tRNA-Ser (AGU/C) 2,Non-coding RNA,mitochondria,Candidate gene tested in,Not yet assessed,[PMID:16950817],590085,ENSG00000210184,,,,HGNC:7498 +GARD:0007144,Orphanet,551,ORPHA:551,10,MT-ND5,"[NAD5, NADH-ubiquinone oxidoreductase chain 5, ND5, complex I ND5 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,,516005,ENSG00000198786,,P03915,P03915,HGNC:7461 +GARD:0007144,Orphanet,551,ORPHA:551,10,MT-TK,[trnK],mitochondrially encoded tRNA-Lys (AAA/G),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:20301693],590060,ENSG00000210156,,,,HGNC:7489 +GARD:0007144,Orphanet,551,ORPHA:551,10,MT-TS1,[TRNS1],mitochondrially encoded tRNA-Ser (UCN) 1,Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:7669057],590080,ENSG00000210151,,,,HGNC:7497 +GARD:0007144,Orphanet,551,ORPHA:551,10,MT-TP,[trnP],mitochondrially encoded tRNA-Pro (CCN),Non-coding RNA,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:19273760, PMID:27816331]",590075,ENSG00000210196,,,,HGNC:7494 +GARD:0007144,Orphanet,551,ORPHA:551,10,MT-RNR1,"[12S, MOTS-c, mitochondrial open-reading-frame of the twelve S rRNA type-c]",mitochondrially encoded 12S rRNA,Non-coding RNA,mitochondria,Candidate gene tested in,Not yet assessed,,561000,ENSG00000211459,,A0A0C5B5G6,,HGNC:7470 +GARD:0007146,Orphanet,178342,ORPHA:178342,6,TPM3,[TRK],tropomyosin 3,gene with protein product,1q21.3,Part of a fusion gene in,Assessed,[PMID:17063337],191030,ENSG00000143549,,P06753,P06753,HGNC:12012 +GARD:0007146,Orphanet,178342,ORPHA:178342,6,TPM4,,tropomyosin 4,gene with protein product,19p13.12-p13.11,Part of a fusion gene in,Assessed,[PMID:10934142],600317,ENSG00000167460,,P67936,P67936,HGNC:12013 +GARD:0007146,Orphanet,178342,ORPHA:178342,6,CLTC,[Hc],clathrin heavy chain,gene with protein product,17q23.1,Part of a fusion gene in,Assessed,[PMID:17656252],118955,ENSG00000141367,,Q00610,Q00610,HGNC:2092 +GARD:0007146,Orphanet,178342,ORPHA:178342,6,ALK,[CD246],ALK receptor tyrosine kinase,gene with protein product,2p23.2-p23.1,Part of a fusion gene in,Assessed,[PMID:17063337],105590,ENSG00000171094,1839,Q9UM73,Q9UM73,HGNC:427 +GARD:0007146,Orphanet,178342,ORPHA:178342,6,CARS1,"['cysteine tRNA ligase 1, cytoplasmic', CARS1, Cysteine tRNA ligase 1, cytoplasmic]",cysteinyl-tRNA synthetase 1,gene with protein product,11p15.4,Part of a fusion gene in,Assessed,"[PMID:12112524, PMID:13679433]",123859,ENSG00000110619,,P49589,P49589,HGNC:1493 +GARD:0007146,Orphanet,178342,ORPHA:178342,6,RANBP2,"[ADANE, NUP358, nucleoporin 358]",RAN binding protein 2,gene with protein product,2q13,Part of a fusion gene in,Assessed,[PMID:12661011],601181,ENSG00000153201,,P49792,P49792,HGNC:9848 +GARD:0007148,Orphanet,53698,ORPHA:53698,1,MYH7,[CMD1S],myosin heavy chain 7,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15136674, PMID:25666907]",160760,ENSG00000092054,,P12883,P12883,HGNC:7577 +GARD:0007157,Orphanet,99967,ORPHA:99967,2,DDIT3,"[C/EBP zeta, CHOP, CHOP10, GADD153]",DNA damage inducible transcript 3,gene with protein product,12q13.3,Part of a fusion gene in,Assessed,,126337,ENSG00000175197,,P35638,P35638,HGNC:2726 +GARD:0007157,Orphanet,99967,ORPHA:99967,2,FUS,"[FUS1, HNRNPP2, TLS, heterogeneous nuclear ribonucleoprotein P2, hnRNP-P2, translocated in liposarcoma]",FUS RNA binding protein,gene with protein product,16p11.2,Part of a fusion gene in,Assessed,,137070,ENSG00000089280,,P35637,P35637,HGNC:4010 +GARD:0007158,Orphanet,927,ORPHA:927,1,NAGS,"[AGAS, ARGA, NAT7]",N-acetylglutamate synthase,gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301316],608300,ENSG00000161653,,Q8N159,Q8N159,HGNC:17996 +GARD:0007160,Orphanet,2614,ORPHA:2614,1,LMX1B,,LIM homeobox transcription factor 1 beta,gene with protein product,9q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301311],602575,ENSG00000136944,,O60663,,HGNC:6654 +GARD:0007161,Orphanet,627,ORPHA:627,1,NHS,,NHS actin remodeling regulator,gene with protein product,Xp22.2-p22.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20332100],300457,ENSG00000188158,,Q6T4R5,,HGNC:7820 +GARD:0007162,Orphanet,2073,ORPHA:2073,8,ZNF365,"[KIAA0844, Su48, Talanin, UAN]",zinc finger protein 365,gene with protein product,10q21.2,Major susceptibility factor in,Assessed,[PMID:24204295],607818,ENSG00000138311,,Q70YC4; Q70YC5,,HGNC:18194 +GARD:0007162,Orphanet,2073,ORPHA:2073,8,MOG,"[BTN6, BTNL11]",myelin oligodendrocyte glycoprotein,gene with protein product,6p22.1,Major susceptibility factor in,Assessed,[PMID:21907016],159465,ENSG00000204655,,Q16653,,HGNC:7197 +GARD:0007162,Orphanet,2073,ORPHA:2073,8,HLA-DQB1,"[CELIAC1, IDDM1]","major histocompatibility complex, class II, DQ beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,[PMID:18706091],604305,ENSG00000179344,,P01920,P01920,HGNC:4944 +GARD:0007162,Orphanet,2073,ORPHA:2073,8,HLA-DRB1,,"major histocompatibility complex, class II, DR beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,"[PMID:18706091, PMID:19410508]",142857,ENSG00000196126,,P01911,P04229,HGNC:4948 +GARD:0007162,Orphanet,2073,ORPHA:2073,8,P2RY11,[P2Y11],purinergic receptor P2Y11,gene with protein product,19p13.2,Major susceptibility factor in,Assessed,[PMID:24204295],602697,ENSG00000244165,327,Q96G91,Q96G91,HGNC:8540 +GARD:0007162,Orphanet,2073,ORPHA:2073,8,TNFSF4,"[CD252, OX-40L, gp34]",TNF superfamily member 4,gene with protein product,1q25.1,Major susceptibility factor in,Assessed,[PMID:23459209],603594,ENSG00000117586,,P23510,P23510,HGNC:11934 +GARD:0007162,Orphanet,2073,ORPHA:2073,8,HCRT,"[OX, PPOX, orexin, prepro-orexin]",hypocretin neuropeptide precursor,gene with protein product,17q21.2,Major susceptibility factor in,Assessed,"[PMID:10973318, PMID:23643651]",602358,ENSG00000161610,,O43612,O43612,HGNC:4847 +GARD:0007162,Orphanet,2073,ORPHA:2073,8,CTSH,"[ACC-4, ACC-5, ACC4, ACC5]",cathepsin H,gene with protein product,15q25.1,Major susceptibility factor in,Assessed,[PMID:23459209],116820,ENSG00000103811,2349,P09668,P09668,HGNC:2535 +GARD:0007163,Orphanet,150,ORPHA:150,1,NFKBIA,"[IKBA, IkappaBalpha, MAD-3, NF-kappa-B inhibitor alpha]",NFKB inhibitor alpha,gene with protein product,14q13.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:27647909],164008,ENSG00000100906,,P25963,P25963,HGNC:7797 +GARD:0007166,Orphanet,377,ORPHA:377,3,PTCH1,[BCNS],patched 1,gene with protein product,9q22.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19032739, PMID:20301330]",601309,ENSG00000185920,,Q13635,Q13635,HGNC:9585 +GARD:0007166,Orphanet,377,ORPHA:377,3,SUFU,"[PRO1280, SUFUH, SUFUXL]",SUFU negative regulator of hedgehog signaling,gene with protein product,10q24.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19533801, PMID:22829011, PMID:25403219]",607035,ENSG00000107882,,Q9UMX1,Q9UMX1,HGNC:16466 +GARD:0007166,Orphanet,377,ORPHA:377,3,PTCH2,,patched 2,gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18285427, PMID:23479190]",603673,ENSG00000117425,,Q9Y6C5,Q9Y6C5,HGNC:9586 +GARD:0007171,Orphanet,171439,ORPHA:171439,7,TPM3,[TRK],tropomyosin 3,gene with protein product,1q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:7704029],191030,ENSG00000143549,,P06753,P06753,HGNC:12012 +GARD:0007171,Orphanet,171439,ORPHA:171439,7,KBTBD13,"[NEM6, hCG_1645727, nemaline myopathy type 6]",kelch repeat and BTB domain containing 13,gene with protein product,15q22.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301465, PMID:21104864]",613727,ENSG00000234438,,C9JR72,C9JR72,HGNC:37227 +GARD:0007171,Orphanet,171439,ORPHA:171439,7,KLHL41,"[Krp1, SARCOSIN, sarcomeric muscle protein]",kelch like family member 41,gene with protein product,2q31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24268659],607701,ENSG00000239474,,O60662,O60662,HGNC:16905 +GARD:0007171,Orphanet,171439,ORPHA:171439,7,TPM2,"[DA1, NEM4, nemaline myopathy type 4]",tropomyosin 2,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:23378224, PMID:23413262]",190990,ENSG00000198467,,P07951,P07951,HGNC:12011 +GARD:0007171,Orphanet,171439,ORPHA:171439,7,MYPN,"['sarcomeric protein myopalladin, 145 kDa', MYOP, Sarcomeric protein myopalladin, 145 kDa]",myopalladin,gene with protein product,10q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28017374],608517,ENSG00000138347,,Q86TC9,,HGNC:23246 +GARD:0007171,Orphanet,171439,ORPHA:171439,7,NEB,"[NEB177D, nemaline myopathy type 2]",nebulin,gene with protein product,2q23.3,Disease-causing germline mutation(s) in,Assessed,,161650,ENSG00000183091,,P20929,P20929,HGNC:7720 +GARD:0007171,Orphanet,171439,ORPHA:171439,7,ACTA1,"[NEM3, nemaline myopathy type 3]","actin alpha 1, skeletal muscle",gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,,102610,ENSG00000143632,,P68133,P68133,HGNC:129 +GARD:0007178,Orphanet,223,ORPHA:223,2,AVPR2,"[V2R, nephrogenic diabetes insipidus]",arginine vasopressin receptor 2,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301356],300538,ENSG00000126895,368,P30518,P30518,HGNC:897 +GARD:0007178,Orphanet,223,ORPHA:223,2,AQP2,,aquaporin 2,gene with protein product,12q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301356],107777,ENSG00000167580,689,P41181,P41181,HGNC:634 +GARD:0007182,Orphanet,634,ORPHA:634,1,SPINK5,"[DKFZp686K19184, FLJ21544, FLJ97536, FLJ97596, FLJ99794, LEKTI, LETKI, NETS, NS, VAKTI, lymphoepithelial Kazal-type-related inhibitor]",serine peptidase inhibitor Kazal type 5,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,[PMID:10835624],605010,ENSG00000133710,,Q9NQ38,Q9NQ38,HGNC:15464 +GARD:0007185,Orphanet,635,ORPHA:635,7,MYCN,"[MYCNOT, N-myc, bHLHe37]","MYCN proto-oncogene, bHLH transcription factor",gene with protein product,2p24.3,Biomarker tested in,Assessed,,164840,ENSG00000134323,,P04198,P04198,HGNC:7559 +GARD:0007185,Orphanet,635,ORPHA:635,7,HACE1,[KIAA1320],HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1,gene with protein product,6q16.3,Major susceptibility factor in,Assessed,[PMID:22911191],610876,ENSG00000085382,,Q8IYU2,Q8IYU2,HGNC:21033 +GARD:0007185,Orphanet,635,ORPHA:635,7,ALK,[CD246],ALK receptor tyrosine kinase,gene with protein product,2p23.2-p23.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:18923523],105590,ENSG00000171094,1839,Q9UM73,Q9UM73,HGNC:427 +GARD:0007185,Orphanet,635,ORPHA:635,7,ALK,[CD246],ALK receptor tyrosine kinase,gene with protein product,2p23.2-p23.1,Major susceptibility factor in,Assessed,[PMID:18923523],105590,ENSG00000171094,1839,Q9UM73,Q9UM73,HGNC:427 +GARD:0007185,Orphanet,635,ORPHA:635,7,TOP2A,"[TOP2alpha, TOPIIA]",DNA topoisomerase II alpha,gene with protein product,17q21.2,Biomarker tested in,Assessed,"[PMID:16682295, PMID:18671248]",126430,ENSG00000131747,2637,P11388,P11388,HGNC:11989 +GARD:0007185,Orphanet,635,ORPHA:635,7,LMO1,"[RHOM1, TTG1]",LIM domain only 1,gene with protein product,11p15.4,Major susceptibility factor in,Assessed,[PMID:26560027],186921,ENSG00000166407,,P25800,P25800,HGNC:6641 +GARD:0007185,Orphanet,635,ORPHA:635,7,PHOX2B,"[NBPhox, Phox2b]",paired like homeobox 2B,gene with protein product,4p13,Major susceptibility factor in,Assessed,[PMID:15024693],603851,ENSG00000109132,,Q99453,,HGNC:9143 +GARD:0007185,Orphanet,635,ORPHA:635,7,LIN28B,"[CSDD2, FLJ16517]",lin-28 homolog B,gene with protein product,6q16.3-q21,Major susceptibility factor in,Assessed,[PMID:22911191],611044,ENSG00000187772,,Q6ZN17,Q6ZN17,HGNC:32207 +GARD:0007193,Orphanet,637,ORPHA:637,1,NF2,"[ACN, BANF, Merlin, SCH, bilateral acoustic neurofibromatosis, merlin, merlin-1, moesin-ezrin-radixin like, schwannomin]","NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor",gene with protein product,22q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301380],607379,ENSG00000186575,,P35240,P35240,HGNC:7773 +GARD:0007206,Orphanet,77292,ORPHA:77292,1,SMPD1,"[ASM, Niemann-Pick type A/B, acid sphingomyelinase]",sphingomyelin phosphodiesterase 1,gene with protein product,11p15.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19405096],607608,ENSG00000166311,2514,P17405,P17405,HGNC:11120 +GARD:0007220,Orphanet,79452,ORPHA:79452,2,GJC2,"[CX46.6, CX47, SPG44, connexin 47]",gap junction protein gamma 2,gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:20537300, PMID:21266381]",608803,ENSG00000198835,731,Q5T442,Q5T442,HGNC:17494 +GARD:0007220,Orphanet,79452,ORPHA:79452,2,FLT4,"[Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4, PCL, VEGF receptor-3, VEGFR-3, VEGFR3, primary congenital lymphedema, vascular endothelial growth factor receptor 3]",fms related receptor tyrosine kinase 4,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301417],136352,ENSG00000037280,1814,P35916,P35916,HGNC:3767 +GARD:0007223,Orphanet+OMIM,163950,OMIM:163950,1,PTPN11,"[BPTP3, PTP2C, SH-PTP2, SH2 domain-containing protein tyrosine phosphatase 2, SHP-2, SHP2]",protein tyrosine phosphatase non-receptor type 11,gene with protein product,12q24.13,The molecular basis of the disorder is known,Unknown,,176876,ENSG00000179295,objectId:3203,Q06124,Q06124,HGNC:9644 +GARD:0007224,Orphanet,649,ORPHA:649,1,NDP,[norrin],norrin cystine knot growth factor NDP,gene with protein product,Xp11.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301506, PMID:9228243]",300658,ENSG00000124479,,Q00604,Q00604,HGNC:7678 +GARD:0007226,Orphanet,510,ORPHA:510,1,HPRT1,"[HGPRT, Lesch-Nyhan syndrome]",hypoxanthine phosphoribosyltransferase 1,gene with protein product,Xq26.2-q26.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,,308000,ENSG00000165704,,P00492,P00492,HGNC:5157 +GARD:0007239,Orphanet,2710,ORPHA:2710,1,GJA1,"[CX43, ODD, ODOD, SDTY3, connexin 43, oculodentodigital dysplasia (syndactyly type III)]",gap junction protein alpha 1,gene with protein product,6q22.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:16378922, PMID:24508941]",121014,ENSG00000152661,728,P17302,P17302,HGNC:4274 +GARD:0007245,Orphanet,270,ORPHA:270,1,PABPN1,[PAB2],poly(A) binding protein nuclear 1,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301305],602279,ENSG00000100836,,Q86U42,Q86U42,HGNC:8565 +GARD:0007251,Orphanet,296,ORPHA:296,3,PTH1R,,parathyroid hormone 1 receptor,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:11850620, PMID:18559376]",168468,ENSG00000160801,331,Q03431,Q03431,HGNC:9608 +GARD:0007251,Orphanet,296,ORPHA:296,3,IDH2,,isocitrate dehydrogenase (NADP(+)) 2,gene with protein product,15q26.1,Disease-causing somatic mutation(s) in,Assessed,"[PMID:22057234, PMID:22057236]",147650,ENSG00000182054,2885,P48735,P48735,HGNC:5383 +GARD:0007251,Orphanet,296,ORPHA:296,3,IDH1,,isocitrate dehydrogenase (NADP(+)) 1,gene with protein product,2q34,Disease-causing somatic mutation(s) in,Assessed,"[PMID:22057234, PMID:22057236]",147700,ENSG00000138413,2884,O75874,O75874,HGNC:5382 +GARD:0007269,Orphanet,147,ORPHA:147,1,CPS1,"[GATD6, carbamoyl-phosphate synthase (ammonia)]",carbamoyl-phosphate synthase 1,gene with protein product,2q34,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20800523],608307,ENSG00000021826,,P31327,P31327,HGNC:2323 +GARD:0007284,Orphanet,668,ORPHA:668,3,CHEK2,"[CDS1, CHK2, HuCds1, PP1425, bA444G7]",checkpoint kinase 2,gene with protein product,22q12.1,Candidate gene tested in,Not yet assessed,[PMID:11746983],604373,ENSG00000183765,1988,O96017,O96017,HGNC:16627 +GARD:0007284,Orphanet,668,ORPHA:668,3,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:1349175, PMID:2823272, PMID:8401536]",191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0007284,Orphanet,668,ORPHA:668,3,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Disease-causing somatic mutation(s) in,Assessed,"[PMID:2823272, PMID:8401536]",191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0007284,Orphanet,668,ORPHA:668,3,RB1,"[PPP1R130, RB, prepro-retinoblastoma-associated protein, protein phosphatase 1, regulatory subunit 130]",RB transcriptional corepressor 1,gene with protein product,13q14.2,Candidate gene tested in,Assessed,[PMID:11449317],614041,ENSG00000139687,,P06400,P06400,HGNC:9884 +GARD:0007299,Orphanet,2796,ORPHA:2796,2,SLCO2A1,"[OATP2A1, PGT]",solute carrier organic anion transporter family member 2A1,gene with protein product,3q22.1-q22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22197487, PMID:22331663]",601460,ENSG00000174640,1223,Q92959,Q92959,HGNC:10955 +GARD:0007299,Orphanet,2796,ORPHA:2796,2,HPGD,"[15-hydroxyprostaglandin dehydrogenase (NAD(+)), SDR36C1, short chain dehydrogenase/reductase family 36C, member 1]",15-hydroxyprostaglandin dehydrogenase,gene with protein product,4q34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18500342],601688,ENSG00000164120,1384,P15428,P15428,HGNC:5154 +GARD:0007305,Orphanet,672,ORPHA:672,1,GLI3,"[ACLS, DNA-binding protein, PAP-A, PAPA, PAPA1, PAPB, PPDIV, oncogene GLI3, zinc finger protein GLI3]",GLI family zinc finger 3,gene with protein product,7p14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301638],165240,ENSG00000106571,,P10071,P10071,HGNC:4319 +GARD:0007324,Orphanet+OMIM,168000,OMIM:168000,1,SDHD,"[cybS, small subunit of cytochrome b]",succinate dehydrogenase complex subunit D,gene with protein product,11q23.1,The molecular basis of the disorder is known,Unknown,,602690,ENSG00000204370,,O14521,O14521,HGNC:10683 +GARD:0007325,Orphanet,684,ORPHA:684,1,SCN4A,"[HYPP, Nav1.4, SkM1]",sodium voltage-gated channel alpha subunit 4,gene with protein product,17q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:10369308],603967,ENSG00000007314,581,P35499,P35499,HGNC:10591 +GARD:0007329,Orphanet,143,ORPHA:143,1,CDC73,"[FIHP, Paf1/RNA polymerase II complex component, parafibromin]",cell division cycle 73,gene with protein product,1q31.2,Disease-causing somatic mutation(s) in,Assessed,"[PMID:14585940, PMID:15719375]",607393,ENSG00000134371,,Q6P1J9,Q6P1J9,HGNC:16783 +GARD:0007337,Orphanet,447,ORPHA:447,1,PIGA,"[GPI3, paroxysmal nocturnal hemoglobinuria, phosphatidylinositol N-acetylglucosaminyltransferase]",phosphatidylinositol glycan anchor biosynthesis class A,gene with protein product,Xp22.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:22305531],311770,ENSG00000165195,,P37287,P37287,HGNC:8957 +GARD:0007342,Orphanet+OMIM,607411,OMIM:607411,1,PDA1,,Patent ductus arteriosus,unknown,12q24,The disease phenotype itself was mapped,Unknown,,607411,,,,,GeneID:100996949 +GARD:0007371,Orphanet+OMIM,300049,OMIM:300049,1,FLNA,"[ABP-280, actin binding protein 280, alpha filamin]",filamin A,gene with protein product,Xq28,The molecular basis of the disorder is known,Unknown,,300017,ENSG00000196924,,P21333,P21333,HGNC:3754 +GARD:0007377,Orphanet,708,ORPHA:708,5,PAX6,"[AN, Aniridia 1, Aniridia 2, D11S812E, WAGR, aniridia, keratitis]",paired box 6,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:10441571, PMID:15090434, PMID:8162071]",607108,ENSG00000007372,,P26367,P26367,HGNC:8620 +GARD:0007377,Orphanet,708,ORPHA:708,5,FOXE3,[FREAC8],forkhead box E3,gene with protein product,1p33,Disease-causing germline mutation(s) in,Assessed,[PMID:27218149],601094,ENSG00000186790,,Q13461,,HGNC:3808 +GARD:0007377,Orphanet,708,ORPHA:708,5,PITX2,"[ARP1, Brx1, IGDS, Otlx2, RS]",paired like homeodomain 2,gene with protein product,4q25,Candidate gene tested in,Not yet assessed,[PMID:10051017],601542,ENSG00000164093,,Q99697,Q99697,HGNC:9005 +GARD:0007377,Orphanet,708,ORPHA:708,5,FOXC1,"[ARA, FREAC3, IGDA, IHG1]",forkhead box C1,gene with protein product,6p25.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:11170889, PMID:12614756, PMID:18498376, PMID:9620769]",601090,ENSG00000054598,,Q12948,Q12948,HGNC:3800 +GARD:0007377,Orphanet,708,ORPHA:708,5,CYP1B1,[CP1B],cytochrome P450 family 1 subfamily B member 1,gene with protein product,2p22.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:11403040, PMID:15621878, PMID:16735991]",601771,ENSG00000138061,1320,Q16678,Q16678,HGNC:2597 +GARD:0007378,Orphanet,2869,ORPHA:2869,1,STK11,"[LKB1, PJS, polarization-related protein LKB1]",serine/threonine kinase 11,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301443, PMID:20581245, PMID:9837816]",602216,ENSG00000118046,2212,Q15831,Q15831,HGNC:11389 +GARD:0007381,Orphanet,526,ORPHA:526,3,SCNN1B,"[ENaCbeta, Liddle syndrome, amiloride-sensitive sodium channel subunit beta]",sodium channel epithelial 1 subunit beta,gene with protein product,16p12.2-p12.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,,600760,ENSG00000168447,739,P51168,P51168,HGNC:10600 +GARD:0007381,Orphanet,526,ORPHA:526,3,SCNN1A,"[ENaCalpha, amiloride-sensitive sodium channel subunit alpha]",sodium channel epithelial 1 subunit alpha,gene with protein product,12p13,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:28710092],600228,ENSG00000111319,738,P37088,P37088,HGNC:10599 +GARD:0007381,Orphanet,526,ORPHA:526,3,SCNN1G,"[ENaCgamma, SCNEG, amiloride-sensitive sodium channel subunit gamma]",sodium channel epithelial 1 subunit gamma,gene with protein product,16p12.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,,600761,ENSG00000166828,741,P51170,P51170,HGNC:10602 +GARD:0007385,Orphanet,276621,ORPHA:276621,6,SDHB,"[iron-sulfur subunit of complex II, succinate dehydrogenase [ubiquinone] iron-sulfur subunit]",succinate dehydrogenase complex iron sulfur subunit B,gene with protein product,1p36.13,Major susceptibility factor in,Assessed,[PMID:12000816],185470,ENSG00000117118,,P21912,P21912,HGNC:10681 +GARD:0007385,Orphanet,276621,ORPHA:276621,6,RET,"[CDHF12, CDHR16, PTC, RET receptor tyrosine kinase, RET51, cadherin-related family member 16, rearranged during transfection]",ret proto-oncogene,gene with protein product,10q11.21,Major susceptibility factor in,Assessed,[PMID:12000816],164761,ENSG00000165731,2185,P07949,P07949,HGNC:9967 +GARD:0007385,Orphanet,276621,ORPHA:276621,6,DNMT3A,,DNA methyltransferase 3 alpha,gene with protein product,2p23.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:29740169],602769,ENSG00000119772,2750,Q9Y6K1,Q9Y6K1,HGNC:2978 +GARD:0007385,Orphanet,276621,ORPHA:276621,6,SDHD,"[cybS, small subunit of cytochrome b]",succinate dehydrogenase complex subunit D,gene with protein product,11q23.1,Major susceptibility factor in,Assessed,[PMID:12000816],602690,ENSG00000204370,,O14521,O14521,HGNC:10683 +GARD:0007385,Orphanet,276621,ORPHA:276621,6,VHL,[VHL1],von Hippel-Lindau tumor suppressor,gene with protein product,3p25.3,Major susceptibility factor in,Assessed,"[PMID:12000816, PMID:27539324]",608537,ENSG00000134086,,P40337,P40337,HGNC:12687 +GARD:0007385,Orphanet,276621,ORPHA:276621,6,EPAS1,"[HIF-1 alpha-like factor, HIF2A, HLF, MOP2, PASD2, bHLHe73]",endothelial PAS domain protein 1,gene with protein product,2p21,Disease-causing somatic mutation(s) in,Assessed,[PMID:23418310],603349,ENSG00000116016,3148,Q99814,Q99814,HGNC:3374 +GARD:0007387,Orphanet,3103,ORPHA:3103,1,ESCO2,[EFO2],establishment of sister chromatid cohesion N-acetyltransferase 2,gene with protein product,8p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301332],609353,ENSG00000171320,,Q56NI9,Q56NI9,HGNC:27230 +GARD:0007389,Orphanet,713,ORPHA:713,1,PGK1,,phosphoglycerate kinase 1,gene with protein product,Xq21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:1547346],311800,ENSG00000102144,,P00558,P00558,HGNC:8896 +GARD:0007392,Orphanet,275864,ORPHA:275864,9,TMEM106B,"[FLJ11273, MGC33727]",transmembrane protein 106B,gene with protein product,7p21.3,Major susceptibility factor in,Assessed,"[PMID:21614538, PMID:27543298]",613413,ENSG00000106460,,Q9NUM4,,HGNC:22407 +GARD:0007392,Orphanet,275864,ORPHA:275864,9,MAPT,"[FLJ31424, FTDP-17, G protein beta1/gamma2 subunit-interacting factor 1, MGC138549, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, microtubule-associated protein tau, isoform 4, protein phosphatase 1, regulatory subunit 103, tau, tau-40]",microtubule associated protein tau,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,[PMID:23597030],157140,ENSG00000186868,,P10636,P10636,HGNC:6893 +GARD:0007392,Orphanet,275864,ORPHA:275864,9,VCP,"[CDC48, IBMPFD, TERA, p97, transitional endoplasmic reticulum ATPase]",valosin containing protein,gene with protein product,9p13.3,Major susceptibility factor in,Not yet assessed,[PMID:23597030],601023,ENSG00000165280,,P55072,P55072,HGNC:12666 +GARD:0007392,Orphanet,275864,ORPHA:275864,9,PSEN1,"[FAD, PS1, S182]",presenilin 1,gene with protein product,14q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:11094121],104311,ENSG00000080815,2402,P49768,P49768,HGNC:9508 +GARD:0007392,Orphanet,275864,ORPHA:275864,9,GRN,"[CLN11, PCDGF, PGRN, progranulin]",granulin precursor,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,"[PMID:23392204, PMID:23597030]",138945,ENSG00000030582,,P28799,P28799,HGNC:4601 +GARD:0007392,Orphanet,275864,ORPHA:275864,9,CHMP2B,"[CHMP2.5, DKFZP564O123, VPS2 homolog B (S. cerevisiae), VPS2B]",charged multivesicular body protein 2B,gene with protein product,3p11.2,Major susceptibility factor in,Assessed,"[PMID:22355793, PMID:23597030]",609512,ENSG00000083937,,Q9UQN3,Q9UQN3,HGNC:24537 +GARD:0007392,Orphanet,275864,ORPHA:275864,9,TREM2,"[TREM-2, Trem2a, Trem2b, Trem2c]",triggering receptor expressed on myeloid cells 2,gene with protein product,6p21.1,Major susceptibility factor in,Assessed,"[PMID:24139279, PMID:25042114]",605086,ENSG00000095970,,Q9NZC2,Q9NZC2,HGNC:17761 +GARD:0007392,Orphanet,275864,ORPHA:275864,9,C9ORF72,"[DENND9, DENNL72, MGC23980]",C9orf72-SMCR8 complex subunit,gene with protein product,9p21.2,Major susceptibility factor in,Assessed,"[PMID:23392204, PMID:23597030]",614260,ENSG00000147894,,Q96LT7,,HGNC:28337 +GARD:0007392,Orphanet,275864,ORPHA:275864,9,SQSTM1,"[A170, autophagy receptor p62, p60, p62, p62B]",sequestosome 1,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24042580],601530,ENSG00000161011,,Q13501,Q13501,HGNC:11280 +GARD:0007399,Orphanet,231662,ORPHA:231662,2,RNPC3,"[FLJ20008, KIAA1839, RBM40, SNRNP65, U11/U12 snRNP 65K]","RNA binding region (RNP1, RRM) containing 3",gene with protein product,1p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24480542],618016,ENSG00000185946,,Q96LT9,Q96LT9,HGNC:18666 +GARD:0007399,Orphanet,231662,ORPHA:231662,2,GH1,"[GH, GH-N, GHN, hGH-N, pituitary growth hormone, somatotropin]",growth hormone 1,gene with protein product,17q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19762173, PMID:22139958]",139250,ENSG00000259384,,P01241,P01241,HGNC:4261 +GARD:0007401,Orphanet,2897,ORPHA:2897,1,CARD14,"[BIMP2, CARMA2]",caspase recruitment domain family member 14,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22703878],607211,ENSG00000141527,,Q9BXL6,,HGNC:16446 +GARD:0007422,Orphanet,729,ORPHA:729,3,TET2,"[FLJ20032, ten-eleven translocation 2]",tet methylcytosine dioxygenase 2,gene with protein product,4q24,Disease-causing somatic mutation(s) in,Assessed,[PMID:19262601],612839,ENSG00000168769,,Q6N021,Q6N021,HGNC:25941 +GARD:0007422,Orphanet,729,ORPHA:729,3,MPL,"[CD110, THPOR, TPOR]","MPL proto-oncogene, thrombopoietin receptor",gene with protein product,1p34.2,Disease-causing somatic mutation(s) in,Assessed,,159530,ENSG00000117400,1722,P40238,P40238,HGNC:7217 +GARD:0007422,Orphanet,729,ORPHA:729,3,JAK2,[JTK10],Janus kinase 2,gene with protein product,9p24.1,Disease-causing somatic mutation(s) in,Assessed,,147796,ENSG00000096968,2048,O60674,O60674,HGNC:6192 +GARD:0007439,Orphanet,93110,ORPHA:93110,1,BNC2,"[BSN2, FLJ20043]",basonuclin 2,gene with protein product,9p22.3-p22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31051115],608669,ENSG00000173068,,Q6ZN30,,HGNC:30988 +GARD:0007459,Orphanet,186,ORPHA:186,8,SPIB,[SPI-B],Spi-B transcription factor,gene with protein product,19q13.33,Major susceptibility factor in,Not yet assessed,,606802,ENSG00000269404,,Q01892,,HGNC:11242 +GARD:0007459,Orphanet,186,ORPHA:186,8,IL12RB1,[CD212],interleukin 12 receptor subunit beta 1,gene with protein product,19p13.11,Major susceptibility factor in,Not yet assessed,,601604,ENSG00000096996,1715,P42701,P42701,HGNC:5971 +GARD:0007459,Orphanet,186,ORPHA:186,8,TNPO3,"[IPO12, MTR10A, TRN-SR, TRN-SR2, importin 12]",transportin 3,gene with protein product,7q32.1,Major susceptibility factor in,Not yet assessed,,610032,ENSG00000064419,,Q9Y5L0,,HGNC:17103 +GARD:0007459,Orphanet,186,ORPHA:186,8,IL12A,"[CLMF, IL-12, subunit p35, IL-12A, IL35 subunit, NF cell stimulatory factor chain 1, NFSK, cytotoxic lymphocyte maturation factor 1, p35, interleukin 12, p35, interleukin-12 alpha chain, natural killer cell stimulatory factor 1, 35 kD subunit, p35]",interleukin 12A,gene with protein product,3q25.33,Major susceptibility factor in,Not yet assessed,,161560,ENSG00000168811,,P29459,P29459,HGNC:5969 +GARD:0007459,Orphanet,186,ORPHA:186,8,MMEL1,"[NEPII, NL1, NL2, SEP, neprilysin 2, neprilysin-II]",membrane metalloendopeptidase like 1,gene with protein product,1p36.32,Major susceptibility factor in,Not yet assessed,,618104,ENSG00000142606,,Q495T6,,HGNC:14668 +GARD:0007459,Orphanet,186,ORPHA:186,8,IRF5,[IRF-5],interferon regulatory factor 5,gene with protein product,7q32.1,Major susceptibility factor in,Not yet assessed,,607218,ENSG00000128604,,Q13568,Q13568,HGNC:6120 +GARD:0007459,Orphanet,186,ORPHA:186,8,TNFSF15,"[MGC129934, MGC129935, TL1, TL1A, TNF ligand-related molecule 1, TNF superfamily ligand TL1A, VEGI, VEGI192A, Vascular endothelial cell growth inhibitor, Vascular endothelial growth inhibitor-192A, vascular endothelial cell growth inhibitor, vascular endothelial growth inhibitor-192A]",TNF superfamily member 15,gene with protein product,9q32,Major susceptibility factor in,Assessed,[PMID:23000144],604052,ENSG00000181634,,O95150,O95150,HGNC:11931 +GARD:0007459,Orphanet,186,ORPHA:186,8,POU2AF1,"[BOB1, OBF1]",POU class 2 homeobox associating factor 1,gene with protein product,11q23.1,Major susceptibility factor in,Assessed,[PMID:23000144],601206,ENSG00000110777,,Q16633,Q16633,HGNC:9211 +GARD:0007467,Orphanet,740,ORPHA:740,2,ZMPSTE24,"[CAAX prenyl protease 1 homolog, FACE-1, HGPS, Hutchinson-Gilford progeria syndrome, PRO1, STE24, Ste24p]",zinc metallopeptidase STE24,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:16671095],606480,ENSG00000084073,,O75844,O75844,HGNC:12877 +GARD:0007467,Orphanet,740,ORPHA:740,2,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:20301300],150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0007473,Orphanet,742,ORPHA:742,1,PEPD,"[Xaa-Pro dipeptidase, imidodipeptidase, prolidase]",peptidase D,gene with protein product,19q13.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18340504],613230,ENSG00000124299,2389,P12955,,HGNC:8840 +GARD:0007475,Orphanet,744,ORPHA:744,2,AKT1,"[AKT, PKB, PRKBA, RAC, RAC-alpha, protein kinase B]",AKT serine/threonine kinase 1,gene with protein product,14q32.33,Disease-causing somatic mutation(s) in,Assessed,[PMID:21793738],164730,ENSG00000142208,1479,P31749,P31749,HGNC:391 +GARD:0007475,Orphanet,744,ORPHA:744,2,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:11476841, PMID:12471211, PMID:12938083]",601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0007479,Orphanet,2970,ORPHA:2970,1,CHRM3,"['acetylcholine receptor, muscarinic 3', Acetylcholine receptor, muscarinic 3]",cholinergic receptor muscarinic 3,gene with protein product,1q43,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22077972],118494,ENSG00000133019,15,P20309,P20309,HGNC:1952 +GARD:0007482,Orphanet,132,ORPHA:132,1,BCHE,[E1],butyrylcholinesterase,gene with protein product,3q26.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:25054547, PMID:25448037]",177400,ENSG00000114200,2471,P06276,P06276,HGNC:983 +GARD:0007486,Orphanet,79443,ORPHA:79443,1,GNAS,"[G protein subunit alpha S, GNASXL, GPSA, NESP, NESP55, SCG6, SgVI, secretogranin VI]",GNAS complex locus,gene with protein product,20q13.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,,139320,ENSG00000087460,,O95467; P63092; P84996; Q5JWF2,P63092,HGNC:4392 +GARD:0007499,Orphanet,747,ORPHA:747,1,HLA-DRB1,,"major histocompatibility complex, class II, DR beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,[PMID:33589587],142857,ENSG00000196126,,P01911,P04229,HGNC:4948 +GARD:0007514,Orphanet,766,ORPHA:766,1,PKLR,,pyruvate kinase L/R,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:15953013, PMID:16704447]",609712,ENSG00000143627,3007,P30613,P30613,HGNC:9020 +GARD:0007523,Orphanet,3019,ORPHA:3019,1,ELMO2,"[CED-12, CED12, ELMO-2, FLJ11656, KIAA1834]",engulfment and cell motility 2,gene with protein product,20q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:29095483],606421,ENSG00000062598,,Q96JJ3,Q96JJ3,HGNC:17233 +GARD:0007548,Orphanet,69076,ORPHA:69076,1,SLC5A2,,solute carrier family 5 member 2,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:14614622, PMID:21165652, PMID:24255686]",182381,ENSG00000140675,916,P31639,P31639,HGNC:11037 +GARD:0007581,Orphanet,1764,ORPHA:1764,1,ELP1,"[IKAP, IKI3, TOT1, elongator acetyltransferase complex subunit 1]",elongator complex protein 1,gene with protein product,9q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301359],603722,ENSG00000070061,,O95163,O95163,HGNC:5959 +GARD:0007598,Orphanet,794,ORPHA:794,3,FGFR2,"[CD332, CEK3, Crouzon syndrome, ECT1, K-SAM, Pfeiffer syndrome, TK14, TK25]",fibroblast growth factor receptor 2,gene with protein product,10q26.13,Candidate gene tested in,Not yet assessed,"[PMID:10425034, PMID:9585583]",176943,ENSG00000066468,1809,P21802,P21802,HGNC:3689 +GARD:0007598,Orphanet,794,ORPHA:794,3,TWIST1,"[BPES2, CRS1, H-twist, SCS, Saethre-Chotzen syndrome, bHLHa38]",twist family bHLH transcription factor 1,gene with protein product,7p21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:9585583],601622,ENSG00000122691,,Q15672,Q15672,HGNC:12428 +GARD:0007598,Orphanet,794,ORPHA:794,3,FGFR3,"[CD333, CEK2, JTK4]",fibroblast growth factor receptor 3,gene with protein product,4p16.3,Candidate gene tested in,Not yet assessed,,134934,ENSG00000068078,1810,P22607,P22607,HGNC:3690 +GARD:0007604,Orphanet,309155,ORPHA:309155,1,HEXB,[beta-hexosaminidase subunit beta],hexosaminidase subunit beta,gene with protein product,5q13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20798201],606873,ENSG00000049860,,P07686,P07686,HGNC:4879 +GARD:0007607,Orphanet,797,ORPHA:797,2,BTNL2,"[BTL-II, BTN7, HSBLMHC1]",butyrophilin like 2,gene with protein product,6p21.32,Major susceptibility factor in,Assessed,[PMID:15735647],606000,ENSG00000204290,,Q9UIR0,Q9UIR0,HGNC:1142 +GARD:0007607,Orphanet,797,ORPHA:797,2,HLA-DRB1,,"major histocompatibility complex, class II, DR beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,[PMID:22991420],142857,ENSG00000196126,,P01911,P04229,HGNC:4948 +GARD:0007608,Orphanet,431272,ORPHA:431272,1,FHL1,"[FHL1B, FLH1A, Four-and-a-half LIM domains 1, KYO-T, LIM protein SLIMMER, MGC111107, SLIM1, XMPMA, bA535K18.1]",four and a half LIM domains 1,gene with protein product,Xq26.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18179901],300163,ENSG00000022267,,Q13642,Q13642,HGNC:3702 +GARD:0007617,Orphanet,454745,ORPHA:454745,1,PRNP,"[AltPrP, CD230, Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, PRP, fatal familial insomnia, p27-30]",prion protein,gene with protein product,20p13,Major susceptibility factor in,Assessed,[PMID:11120925],176640,ENSG00000171867,,P04156,P04156,HGNC:9449 +GARD:0007627,Orphanet,3157,ORPHA:3157,7,HESX1,"[ANF, RPX]",HESX homeobox 1,gene with protein product,3p14.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:17587179, PMID:19623216, PMID:21396578, PMID:24802313]",601802,ENSG00000163666,,Q9UBX0,Q9UBX0,HGNC:4877 +GARD:0007627,Orphanet,3157,ORPHA:3157,7,SOX3,,SRY-box transcription factor 3,gene with protein product,Xq27.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:17587179, PMID:21396578, PMID:24802313]",313430,ENSG00000134595,,P41225,P41225,HGNC:11199 +GARD:0007627,Orphanet,3157,ORPHA:3157,7,OTX2,,orthodenticle homeobox 2,gene with protein product,14q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21396578, PMID:24802313]",600037,ENSG00000165588,,P32243,,HGNC:8522 +GARD:0007627,Orphanet,3157,ORPHA:3157,7,SOX2,,SRY-box transcription factor 2,gene with protein product,3q26.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:17587179, PMID:19623216, PMID:21396578, PMID:24802313]",184429,ENSG00000181449,,P48431,P48431,HGNC:11195 +GARD:0007627,Orphanet,3157,ORPHA:3157,7,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:22319038],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0007627,Orphanet,3157,ORPHA:3157,7,PROKR2,"[GPR73b, GPRg2, PKR2, dJ680N4.3]",prokineticin receptor 2,gene with protein product,20p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22319038],607123,ENSG00000101292,336,Q8NFJ6,Q8NFJ6,HGNC:15836 +GARD:0007627,Orphanet,3157,ORPHA:3157,7,ARNT2,"[KIAA0307, bHLHe1]",aryl hydrocarbon receptor nuclear translocator 2,gene with protein product,15q25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24022475],606036,ENSG00000172379,,Q9HBZ2,Q9HBZ2,HGNC:16876 +GARD:0007629,Orphanet,3162,ORPHA:3162,3,CTLA4,"[CD, CD152, CTLA-4, GSE]",cytotoxic T-lymphocyte associated protein 4,gene with protein product,2q33.2,Part of a fusion gene in,Assessed,[PMID:26258847],123890,ENSG00000163599,2743,P16410,P16410,HGNC:2505 +GARD:0007629,Orphanet,3162,ORPHA:3162,3,CD28,[T-cell-specific surface glycoprotein],CD28 molecule,gene with protein product,2q33.2,Part of a fusion gene in,Assessed,[PMID:26258847],186760,ENSG00000178562,2863,P10747,P10747,HGNC:1653 +GARD:0007629,Orphanet,3162,ORPHA:3162,3,TNFRSF1B,"[CD120b, TNF-R-II, TNF-R75, TNFBR, TNFR80, p75]",TNF receptor superfamily member 1B,gene with protein product,1p36.22,Disease-causing somatic mutation(s) in,Assessed,[PMID:26258847],191191,ENSG00000028137,1871,P20333,P20333,HGNC:11917 +GARD:0007633,Orphanet,3163,ORPHA:3163,1,PIK3R1,"[GRB1, p85, p85-ALPHA, phosphoinositide-3-kinase regulatory subunit alpha]",phosphoinositide-3-kinase regulatory subunit 1,gene with protein product,5q13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:23810378, PMID:23810379, PMID:23810382]",171833,ENSG00000145675,2503,P27986,P27986,HGNC:8979 +GARD:0007639,Orphanet,812,ORPHA:812,1,NEU1,,neuraminidase 1,gene with protein product,6p21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:14517945],608272,ENSG00000204386,,Q99519,Q99519,HGNC:7758 +GARD:0007649,Orphanet,373,ORPHA:373,2,GPC4,"[K-glypican, glypican proteoglycan 4]",glypican 4,gene with protein product,Xq26.2,Candidate gene tested in,Not yet assessed,"[PMID:20301398, PMID:21082656]",300168,ENSG00000076716,,O75487,O75487,HGNC:4452 +GARD:0007649,Orphanet,373,ORPHA:373,2,GPC3,"[DGSX, OCI-5, SGB, SGBS, SGBS1, glypican proteoglycan 3]",glypican 3,gene with protein product,Xq26.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10814714, PMID:20301398]",300037,ENSG00000147257,2959,P51654,P51654,HGNC:4451 +GARD:0007653,Orphanet,2882,ORPHA:2882,2,ABCG5,"[STSL, sterolin 1]",ATP binding cassette subfamily G member 5,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,"[PMID:11138003, PMID:23556150]",605459,ENSG00000138075,794,Q9H222,Q9H222,HGNC:13886 +GARD:0007653,Orphanet,2882,ORPHA:2882,2,ABCG8,"[GBD4, gallbladder disease 4, sterolin 2]",ATP binding cassette subfamily G member 8,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,"[PMID:11099417, PMID:23556150]",605460,ENSG00000143921,795,Q9H221,Q9H221,HGNC:13887 +GARD:0007654,Orphanet,816,ORPHA:816,1,ALDH3A2,"[FALDH, fatty aldehyde dehydrogenase]",aldehyde dehydrogenase 3 family member A2,gene with protein product,17p11.2,Disease-causing germline mutation(s) in,Assessed,,609523,ENSG00000072210,,P51648,P51648,HGNC:403 +GARD:0007664,Orphanet,820,ORPHA:820,1,ADA2,[ADGF],adenosine deaminase 2,gene with protein product,22q11.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:25075847, PMID:25551694]",607575,ENSG00000093072,,Q9NZK5,Q9NZK5,HGNC:1839 +GARD:0007690,Orphanet,356,ORPHA:356,1,PRNP,"[AltPrP, CD230, Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, PRP, fatal familial insomnia, p27-30]",prion protein,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301407],176640,ENSG00000171867,,P04156,P04156,HGNC:9449 +GARD:0007695,Orphanet,22,ORPHA:22,1,ALDH5A1,"[SSADH, SSDH, succinate-semialdehyde dehydrogenase]",aldehyde dehydrogenase 5 family member A1,gene with protein product,6p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301374],610045,ENSG00000112294,2466,P51649,P51649,HGNC:408 +GARD:0007700,Orphanet,36426,ORPHA:36426,2,HLA-B,,"major histocompatibility complex, class I, B",gene with protein product,6p21.33,Major susceptibility factor in,Not yet assessed,,142830,ENSG00000234745,,P01889,P30486,HGNC:4932 +GARD:0007700,Orphanet,36426,ORPHA:36426,2,IKZF1,"[Hs.54452, IKAROS, LyF-1, PPP1R92, hIk-1, protein phosphatase 1, regulatory subunit 92]",IKAROS family zinc finger 1,gene with protein product,7p12.2,Major susceptibility factor in,Assessed,[PMID:25672763],603023,ENSG00000185811,,Q13422,Q13422,HGNC:13176 +GARD:0007706,Orphanet,3205,ORPHA:3205,1,GNAQ,"[G-ALPHA-q, GAQ]",G protein subunit alpha q,gene with protein product,9q21.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:23656586],600998,ENSG00000156052,2914,P50148,P50148,HGNC:4390 +GARD:0007710,Orphanet,35122,ORPHA:35122,1,SI,"[Alpha-methylglucosidase, Oligo-1,6-glucosidase, Oligosaccharide alpha-1,6-glucosidase, alpha-glucosidase]",sucrase-isomaltase,gene with protein product,3q26.1,Disease-causing germline mutation(s) in,Assessed,,609845,ENSG00000090402,,P14410,P14410,HGNC:10856 +GARD:0007721,Orphanet,3273,ORPHA:3273,3,SS18,"[SMARCL1, SYT]",SS18 subunit of BAF chromatin remodeling complex,gene with protein product,18q11.2,Part of a fusion gene in,Assessed,,600192,ENSG00000141380,,Q15532,,HGNC:11340 +GARD:0007721,Orphanet,3273,ORPHA:3273,3,SSX2,"[CT5.2a, HD21, HOM-MEL-40, MGC119055, MGC15364, MGC3884, cancer/testis antigen family 5, member 2a, sarcoma, synovial, X-chromosome-related 2, synovial sarcoma, X breakpoint 2, isoform b, synovial sarcoma, X breakpoint 2B]",SSX family member 2,gene with protein product,Xp11.22,Part of a fusion gene in,Assessed,,300192,ENSG00000241476,,Q16385,Q16385,HGNC:11336 +GARD:0007721,Orphanet,3273,ORPHA:3273,3,SSX1,"[CT5.1, cancer/testis antigen family 5, member 1]",SSX family member 1,gene with protein product,Xp11.23,Part of a fusion gene in,Assessed,,312820,ENSG00000126752,,Q16384,,HGNC:11335 +GARD:0007730,Orphanet,3287,ORPHA:3287,3,HLA-B,,"major histocompatibility complex, class I, B",gene with protein product,6p21.33,Major susceptibility factor in,Assessed,"[PMID:23830507, PMID:23830516]",142830,ENSG00000234745,,P01889,P30486,HGNC:4932 +GARD:0007730,Orphanet,3287,ORPHA:3287,3,MLX,"[MAD7, MXD7, bHLHd13]",MAX dimerization protein MLX,gene with protein product,17q21.2,Major susceptibility factor in,Assessed,"[PMID:23830507, PMID:23830516]",602976,ENSG00000108788,,Q9UH92,Q9UH92,HGNC:11645 +GARD:0007730,Orphanet,3287,ORPHA:3287,3,IL12B,"[CLMF, CLMF2, IL-12B, IL12, subunit p40, NKSF, cytotoxic lymphocyte maturation factor 2, p40, interleukin 12, p40, interleukin-12 beta chain, natural killer cell stimulatory factor, 40 kD subunit, natural killer cell stimulatory factor-2]",interleukin 12B,gene with protein product,5q33.3,Major susceptibility factor in,Assessed,"[PMID:23830507, PMID:23830516]",161561,ENSG00000113302,,P29460,P29460,HGNC:5970 +GARD:0007731,Orphanet,31150,ORPHA:31150,1,ABCA1,"[TGD, Tangier disease]",ATP binding cassette subfamily A member 1,gene with protein product,9q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:10535983],600046,ENSG00000165029,756,O95477,O95477,HGNC:29 +GARD:0007772,Orphanet,42665,ORPHA:42665,1,MITF,"[MI, bHLHe32, homolog of mouse microphthalmia]",melanocyte inducing transcription factor,gene with protein product,3p13,Disease-causing germline mutation(s) in,Assessed,[PMID:10851256],156845,ENSG00000187098,,O75030,O75030,HGNC:7105 +GARD:0007784,Orphanet,857,ORPHA:857,2,DACT1,"[DAPPER, DAPPER1, FRODO, HDPR1, THYEX3]",dishevelled binding antagonist of beta catenin 1,gene with protein product,14q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28054444],607861,ENSG00000165617,,Q9NYF0,Q9NYF0,HGNC:17748 +GARD:0007784,Orphanet,857,ORPHA:857,2,SALL1,"[Hsal1, ZNF794]",spalt like transcription factor 1,gene with protein product,16q12.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301618],602218,ENSG00000103449,,Q9NSC2,Q9NSC2,HGNC:10524 +GARD:0007799,Orphanet,3352,ORPHA:3352,1,DLX3,,distal-less homeobox 3,gene with protein product,17q21.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:18492670, PMID:22969805]",600525,ENSG00000064195,,O60479,,HGNC:2916 +GARD:0007800,Orphanet+OMIM,190350,OMIM:190350,1,TRPS1,"[GC79, LGCR]",transcriptional repressor GATA binding 1,gene with protein product,8q23.3,The molecular basis of the disorder is known,Unknown,,604386,ENSG00000104447,,Q9UHF7,,HGNC:12340 +GARD:0007801,Orphanet,502,ORPHA:502,2,TRPS1,"[GC79, LGCR]",transcriptional repressor GATA binding 1,gene with protein product,8q23.3,Role in the phenotype of,Assessed,,604386,ENSG00000104447,,Q9UHF7,,HGNC:12340 +GARD:0007801,Orphanet,502,ORPHA:502,2,EXT1,"[Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, ttv]",exostosin glycosyltransferase 1,gene with protein product,8q24.11,Role in the phenotype of,Assessed,,608177,ENSG00000182197,,Q16394,Q16394,HGNC:3512 +GARD:0007802,Orphanet+OMIM,190351,OMIM:190351,1,TRPS1,"[GC79, LGCR]",transcriptional repressor GATA binding 1,gene with protein product,8q23.3,The molecular basis of the disorder is known,Unknown,,604386,ENSG00000104447,,Q9UHF7,,HGNC:12340 +GARD:0007827,Orphanet,3389,ORPHA:3389,1,SLC11A1,[natural resistance-associated macrophage protein 1],solute carrier family 11 member 1,gene with protein product,2q35,Major susceptibility factor in,Not yet assessed,,600266,ENSG00000018280,966,P49279,P49279,HGNC:10907 +GARD:0007830,Orphanet,805,ORPHA:805,3,IFNG,,interferon gamma,gene with protein product,12q15,Modifying germline mutation in,Assessed,[PMID:12192641],147570,ENSG00000111537,,P01579,P01579,HGNC:5438 +GARD:0007830,Orphanet,805,ORPHA:805,3,TSC2,"[LAM, PPP1R160, protein phosphatase 1, regulatory subunit 160, tuberin]",TSC complex subunit 2,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301399],191092,ENSG00000103197,,P49815,P49815,HGNC:12363 +GARD:0007830,Orphanet,805,ORPHA:805,3,TSC1,"[KIAA0243, LAM, hamartin]",TSC complex subunit 1,gene with protein product,9q34,Disease-causing germline mutation(s) in,Assessed,[PMID:20301399],605284,ENSG00000165699,,Q92574,Q92574,HGNC:12362 +GARD:0007846,Orphanet+OMIM,606713,OMIM:606713,1,GRHL3,"[SOM, sister-of-mammalian grainyhead]",grainyhead like transcription factor 3,gene with protein product,1p36.11,The molecular basis of the disorder is known,Unknown,,608317,ENSG00000158055,,Q8TE85,,HGNC:25839 +GARD:0007848,Orphanet,79473,ORPHA:79473,1,PPOX,[PPO],protoporphyrinogen oxidase,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23409300],600923,ENSG00000143224,,P50336,P50336,HGNC:9280 +GARD:0007855,Orphanet,892,ORPHA:892,2,CCND1,"[B-cell CLL/lymphoma 1, G1/S-specific cyclin D1, U21B31, parathyroid adenomatosis 1]",cyclin D1,gene with protein product,11q13.3,Modifying germline mutation in,Assessed,[PMID:12097293],168461,ENSG00000110092,,P24385,P24385,HGNC:1582 +GARD:0007855,Orphanet,892,ORPHA:892,2,VHL,[VHL1],von Hippel-Lindau tumor suppressor,gene with protein product,3p25.3,Disease-causing germline mutation(s) in,Assessed,,608537,ENSG00000134086,,P40337,P40337,HGNC:12687 +GARD:0007860,Orphanet,79445,ORPHA:79445,1,GNAS,"[G protein subunit alpha S, GNASXL, GPSA, NESP, NESP55, SCG6, SgVI, secretogranin VI]",GNAS complex locus,gene with protein product,20q13.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,,139320,ENSG00000087460,,O95467; P63092; P84996; Q5JWF2,P63092,HGNC:4392 +GARD:0007862,Orphanet,3437,ORPHA:3437,2,FAS,"[APO-1, CD95, TNF receptor superfamily member 6]",Fas cell surface death receptor,gene with protein product,10q23.31,Major susceptibility factor in,Assessed,[PMID:26136352],134637,ENSG00000026103,1875,P25445,P25445,HGNC:11920 +GARD:0007862,Orphanet,3437,ORPHA:3437,2,PTPN22,"[Lyp, Lyp1, Lyp2]",protein tyrosine phosphatase non-receptor type 22,gene with protein product,1p13.2,Major susceptibility factor in,Assessed,[PMID:24816862],600716,ENSG00000134242,3084,Q9Y2R2,Q9Y2R2,HGNC:9652 +GARD:0007864,Orphanet,79258,ORPHA:79258,1,G6PC1,"[G6PC1, GSD1a, glycogen storage disease type I, von Gierke disease]",glucose-6-phosphatase catalytic subunit 1,gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,,613742,ENSG00000131482,,P35575,P35575,HGNC:4056 +GARD:0007871,Orphanet,898,ORPHA:898,1,VCAN,"[PG-M, versican proteoglycan]",versican,gene with protein product,5q14.2-q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301747],118661,ENSG00000038427,,P13611,P13611,HGNC:2464 +GARD:0007872,Orphanet,33226,ORPHA:33226,1,MYD88,,MYD88 innate immune signal transduction adaptor,gene with protein product,3p22.2,Disease-causing somatic mutation(s) in,Assessed,"[PMID:23321251, PMID:23532735]",602170,ENSG00000172936,,Q99836,Q99836,HGNC:7562 +GARD:0007878,Orphanet,3447,ORPHA:3447,4,EZH2,"[ENX-1, EZH1, KMT6, KMT6A]",enhancer of zeste 2 polycomb repressive complex 2 subunit,gene with protein product,7q36.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:22177091, PMID:23865096, PMID:24214728]",601573,ENSG00000106462,2654,Q15910,Q15910,HGNC:3527 +GARD:0007878,Orphanet,3447,ORPHA:3447,4,EED,"[HEED, WAIT-1, WD protein associating with integrin cytoplasmic tails 1]",embryonic ectoderm development,gene with protein product,11q14.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:27868325, PMID:28229514]",605984,ENSG00000074266,2487,O75530,R-HSA-212278,HGNC:3188 +GARD:0007878,Orphanet,3447,ORPHA:3447,4,SUZ12,"[CHET9, JJAZ1, KIAA0160]",SUZ12 polycomb repressive complex 2 subunit,gene with protein product,17q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28229514],606245,ENSG00000178691,,Q15022,Q15022,HGNC:17101 +GARD:0007878,Orphanet,3447,ORPHA:3447,4,NSD1,"[ARA267, FLJ22263, KMT3B]",nuclear receptor binding SET domain protein 1,gene with protein product,5q35.3,Candidate gene tested in,Not yet assessed,,606681,ENSG00000165671,2696,Q96L73,Q96L73,HGNC:14234 +GARD:0007880,Orphanet,900,ORPHA:900,5,PRTN3,"[ACPA, AGP7, C-ANCA, MBT, P29, PR-3, Wegener granulomatosis autoantigen, myeloblastin, serine proteinase, neutrophil]",proteinase 3,gene with protein product,19p13.3,Major susceptibility factor in,Assessed,[PMID:22808956],177020,ENSG00000196415,2401,P24158,P24158,HGNC:9495 +GARD:0007880,Orphanet,900,ORPHA:900,5,HLA-DPA1,,"major histocompatibility complex, class II, DP alpha 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,[PMID:28029757],142880,ENSG00000231389,,P20036,,HGNC:4938 +GARD:0007880,Orphanet,900,ORPHA:900,5,CTLA4,"[CD, CD152, CTLA-4, GSE]",cytotoxic T-lymphocyte associated protein 4,gene with protein product,2q33.2,Major susceptibility factor in,Assessed,[PMID:22508400],123890,ENSG00000163599,2743,P16410,P16410,HGNC:2505 +GARD:0007880,Orphanet,900,ORPHA:900,5,HLA-DPB1,,"major histocompatibility complex, class II, DP beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,[PMID:23740775],142858,ENSG00000223865,,P04440,P04440,HGNC:4940 +GARD:0007880,Orphanet,900,ORPHA:900,5,PTPN22,"[Lyp, Lyp1, Lyp2]",protein tyrosine phosphatase non-receptor type 22,gene with protein product,1p13.2,Major susceptibility factor in,Assessed,"[PMID:22508400, PMID:22696186]",600716,ENSG00000134242,3084,Q9Y2R2,Q9Y2R2,HGNC:9652 +GARD:0007883,Orphanet,83330,ORPHA:83330,3,SMN2,"[BCD541, GEMIN1, SMNC, TDRD16B, tudor domain containing 16B]","survival of motor neuron 2, centromeric",gene with protein product,5q13.2,Modifying germline mutation in,Assessed,[PMID:20301526],601627,ENSG00000205571,,Q16637,Q16637,HGNC:11118 +GARD:0007883,Orphanet,83330,ORPHA:83330,3,NAIP,"[NLR family, BIR domain containing 1, NLRB1, nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1]",NLR family apoptosis inhibitory protein,gene with protein product,5q13.2,Modifying germline mutation in,Assessed,[PMID:11912351],600355,ENSG00000249437,2793,Q13075,,HGNC:7634 +GARD:0007883,Orphanet,83330,ORPHA:83330,3,SMN1,"[BCD541, GEMIN1, SMA1, SMA2, SMA3, SMNT, TDRD16A, gemin-1, tudor domain containing 16A]","survival of motor neuron 1, telomeric",gene with protein product,5q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301526],600354,ENSG00000172062,,Q16637,Q16637,HGNC:11117 +GARD:0007885,Orphanet,902,ORPHA:902,1,WRN,"[RECQ3, RECQL2]",WRN RecQ like helicase,gene with protein product,8p12,Disease-causing germline mutation(s) in,Assessed,"[PMID:16673358, PMID:20301687]",604611,ENSG00000165392,,Q14191,Q14191,HGNC:12791 +GARD:0007887,Orphanet,3451,ORPHA:3451,14,CDKL5,"[CFAP247, EIEE2]",cyclin dependent kinase like 5,gene with protein product,Xp22.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:18564362, PMID:22196487, PMID:22787626]",300203,ENSG00000008086,1986,O76039,O76039,HGNC:11411 +GARD:0007887,Orphanet,3451,ORPHA:3451,14,SPTAN1,[alpha-fodrin],"spectrin alpha, non-erythrocytic 1",gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:18065176, PMID:22196487]",182810,ENSG00000197694,,Q13813,Q13813,HGNC:11273 +GARD:0007887,Orphanet,3451,ORPHA:3451,14,SIK1,"[msk, myocardial SNF1-like kinase]",salt inducible kinase 1,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25839329],605705,ENSG00000142178,2197,P57059,P57059,HGNC:11142 +GARD:0007887,Orphanet,3451,ORPHA:3451,14,PHACTR1,"[KIAA1733, dJ257A7.2]",phosphatase and actin regulator 1,gene with protein product,6p24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30256902],608723,ENSG00000112137,,Q9C0D0,,HGNC:20990 +GARD:0007887,Orphanet,3451,ORPHA:3451,14,NTRK2,"[BDNF/NT-3 growth factors receptor, TRKB]",neurotrophic receptor tyrosine kinase 2,gene with protein product,9q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:29100083],600456,ENSG00000148053,1818,Q16620,Q16620,HGNC:8032 +GARD:0007887,Orphanet,3451,ORPHA:3451,14,SCN2A,"[HBSCI, HBSCII, Nav1.2]",sodium voltage-gated channel alpha subunit 2,gene with protein product,2q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23935176],182390,ENSG00000136531,579,Q99250,Q99250,HGNC:10588 +GARD:0007887,Orphanet,3451,ORPHA:3451,14,WDR45,"[JM5, NBIA5, WIPI4, neurodegeneration with brain iron accumulation 5]",WD repeat domain 45,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:27030146],300526,ENSG00000196998,,Q9Y484,Q9Y484,HGNC:28912 +GARD:0007887,Orphanet,3451,ORPHA:3451,14,ARX,"[CT121, EIEE1, ISSX, cancer/testis antigen 121]",aristaless related homeobox,gene with protein product,Xp21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20506206, PMID:22787626]",300382,ENSG00000004848,,Q96QS3,,HGNC:18060 +GARD:0007887,Orphanet,3451,ORPHA:3451,14,GUF1,[FLJ13220],GTP binding elongation factor GUF1,gene with protein product,4p12,Disease-causing germline mutation(s) in,Assessed,[PMID:26486472],617064,ENSG00000151806,,Q8N442,,HGNC:25799 +GARD:0007887,Orphanet,3451,ORPHA:3451,14,CNPY3,[CAG4A],canopy FGF signaling regulator 3,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29394991],610774,ENSG00000137161,,Q9BT09,Q9BT09,HGNC:11968 +GARD:0007887,Orphanet,3451,ORPHA:3451,14,PIGA,"[GPI3, paroxysmal nocturnal hemoglobinuria, phosphatidylinositol N-acetylglucosaminyltransferase]",phosphatidylinositol glycan anchor biosynthesis class A,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24357517],311770,ENSG00000165195,,P37287,P37287,HGNC:8957 +GARD:0007887,Orphanet,3451,ORPHA:3451,14,GRIN2B,[GluN2B],glutamate ionotropic receptor NMDA type subunit 2B,gene with protein product,12p13.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24272827],138252,ENSG00000273079,457,Q13224,Q13224,HGNC:4586 +GARD:0007887,Orphanet,3451,ORPHA:3451,14,PLCB1,"[KIAA0581, PLC-I, PLC154, phosphoinositide phospholipase C]",phospholipase C beta 1,gene with protein product,20p12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20833646, PMID:22196487]",607120,ENSG00000182621,1403,Q9NQ66,Q9NQ66,HGNC:15917 +GARD:0007887,Orphanet,3451,ORPHA:3451,14,ST3GAL3,"['N-acetyllactosaminide alpha-2,3-sialyltransferase', ST3Gal III]","ST3 beta-galactoside alpha-2,3-sialyltransferase 3",gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23252400],606494,ENSG00000126091,,Q11203,Q11203,HGNC:10866 +GARD:0007889,Orphanet,3452,ORPHA:3452,1,IRF4,[LSIRF],interferon regulatory factor 4,gene with protein product,6p25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29537367],601900,ENSG00000137265,,Q15306,Q15306,HGNC:6119 +GARD:0007890,Orphanet,3454,ORPHA:3454,1,ZC4H2,[HCA127],zinc finger C4H2-type containing,gene with protein product,Xq11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23623388],300897,ENSG00000126970,,Q9NQZ6,,HGNC:24931 +GARD:0007891,Orphanet,904,ORPHA:904,20,TBL2,"[DKFZP43N024, WBSCR13, WS-betaTRP, Williams-Beuren syndrome chromosome region 13]",transducin beta like 2,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:20301427],605842,ENSG00000106638,,Q9Y4P3,,HGNC:11586 +GARD:0007891,Orphanet,904,ORPHA:904,20,METTL27,,methyltransferase like 27,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:18398435],612546,ENSG00000165171,,Q8N6F8,,HGNC:19068 +GARD:0007891,Orphanet,904,ORPHA:904,20,BAZ1B,"[WSTF, Williams-Beuren syndrome chromosome region 10, Williams-Beuren syndrome chromosome region 9, transcription factor WSTF]",bromodomain adjacent to zinc finger domain 1B,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:20301427],605681,ENSG00000009954,2774,Q9UIG0,Q9UIG0,HGNC:961 +GARD:0007891,Orphanet,904,ORPHA:904,20,BUD23,"[MERM1, MGC19709, MGC2022, MGC5140, PP3381, WBMT, metastasis-related methyltransferase 1]",BUD23 rRNA methyltransferase and ribosome maturation factor,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:11978965],615733,ENSG00000071462,,O43709,,HGNC:16405 +GARD:0007891,Orphanet,904,ORPHA:904,20,VPS37D,[MGC35352],VPS37D subunit of ESCRT-I,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:19897463],610039,ENSG00000176428,,Q86XT2,,HGNC:18287 +GARD:0007891,Orphanet,904,ORPHA:904,20,DNAJC30,,DnaJ heat shock protein family (Hsp40) member C30,gene with protein product,7q11.23,Candidate gene tested in,Not yet assessed,,618202,ENSG00000176410,,Q96LL9,,HGNC:16410 +GARD:0007891,Orphanet,904,ORPHA:904,20,GTF2IRD2,"[FLJ37938, GTF2IRD2A, transcription factor GTF2IRD2]",GTF2I repeat domain containing 2,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:15243160],608899,ENSG00000196275,,Q86UP8,,HGNC:30775 +GARD:0007891,Orphanet,904,ORPHA:904,20,RFC2,"[A1, RFC40, activator 1]",replication factor C subunit 2,gene with protein product,7q11.23,Candidate gene tested in,Assessed,[PMID:20301427],600404,ENSG00000049541,,P35250,P35250,HGNC:9970 +GARD:0007891,Orphanet,904,ORPHA:904,20,GTF2I,"[BAP-135, BTKAP1, DIWS, IB291, SPIN, TFII-I]",general transcription factor IIi,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:20301427],601679,ENSG00000263001,,P78347,P78347,HGNC:4659 +GARD:0007891,Orphanet,904,ORPHA:904,20,FKBP6,"[FK506 binding protein 6 (36kD), FKBP36, PPIase, immunophilin FKBP36, peptidylprolyl cis-trans isomerase, rotamase]",FKBP prolyl isomerase family member 6 (inactive),gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:9782077],604839,ENSG00000077800,,O75344,,HGNC:3722 +GARD:0007891,Orphanet,904,ORPHA:904,20,NCF1,"[NADPH oxidase organizer 2, NCF1A, NOXO2, SH3PXD1A, chronic granulomatous disease, autosomal 1, p47phox]",neutrophil cytosolic factor 1,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:9311751],608512,ENSG00000158517,,P14598,P14598,HGNC:7660 +GARD:0007891,Orphanet,904,ORPHA:904,20,BCL7B,[SMARCJ2],BAF chromatin remodeling complex subunit BCL7B,gene with protein product,7q11.23,Candidate gene tested in,Not yet assessed,,605846,ENSG00000106635,,Q9BQE9,,HGNC:1005 +GARD:0007891,Orphanet,904,ORPHA:904,20,GTF2IRD1,"[BEN, Cream1, GTF3, MusTRD1, RBAP2, WBSCR12, binding factor for early enhancer]",GTF2I repeat domain containing 1,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:20301427],604318,ENSG00000006704,,Q9UHL9,Q9UHL9,HGNC:4661 +GARD:0007891,Orphanet,904,ORPHA:904,20,CLIP2,"[CLIP, CLIP-115, KIAA0291, WSCR3, WSCR4]",CAP-Gly domain containing linker protein 2,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:20301427],603432,ENSG00000106665,,Q9UDT6,,HGNC:2586 +GARD:0007891,Orphanet,904,ORPHA:904,20,MLXIPL,"[CHREBP, MIO, MONDOB, WS-bHLH, bHLHd14, carbohydrate response element binding protein]",MLX interacting protein like,gene with protein product,7q11.23,Candidate gene tested in,Not yet assessed,,605678,ENSG00000009950,,Q9NP71,,HGNC:12744 +GARD:0007891,Orphanet,904,ORPHA:904,20,TMEM270,[MGC26719],transmembrane protein 270,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:18398435],612547,ENSG00000175877,,Q6UE05,,HGNC:23018 +GARD:0007891,Orphanet,904,ORPHA:904,20,LIMK1,[LIMK],LIM domain kinase 1,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:20301427],601329,ENSG00000106683,2054,P53667,P53667,HGNC:6613 +GARD:0007891,Orphanet,904,ORPHA:904,20,ELN,"[SVAS, WBS, WS, Williams-Beuren syndrome, supravalvular aortic stenosis, tropoelastin]",elastin,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:20301427],130160,ENSG00000049540,,P15502,P15502,HGNC:3327 +GARD:0007891,Orphanet,904,ORPHA:904,20,STX1A,"[HPC-1, p35-1]",syntaxin 1A,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:9311751],186590,ENSG00000106089,,Q16623,Q16623,HGNC:11433 +GARD:0007891,Orphanet,904,ORPHA:904,20,EIF4H,"[KIAA0038, WSCR1]",eukaryotic translation initiation factor 4H,gene with protein product,7q11.23,Role in the phenotype of,Assessed,[PMID:8812460],603431,ENSG00000106682,,Q15056,,HGNC:12741 +GARD:0007892,Orphanet,654,ORPHA:654,9,DIS3L2,"[FLJ36974, MGC42174]",DIS3 like 3'-5' exoribonuclease 2,gene with protein product,2q37.1,Major susceptibility factor in,Assessed,,614184,ENSG00000144535,,Q8IYB7,,HGNC:28648 +GARD:0007892,Orphanet,654,ORPHA:654,9,TRIP13,"[16E1BP, thyroid receptor interacting protein 13]",thyroid hormone receptor interactor 13,gene with protein product,5p15.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28553959],604507,ENSG00000071539,,Q15645,Q15645,HGNC:12307 +GARD:0007892,Orphanet,654,ORPHA:654,9,H19,"[ASM, ASM1, D11S813E, LINC00008, MIR675 host gene, MIR675HG, NCRNA00008, adult skeletal muscle, long intergenic non-protein coding RNA 8, non-protein coding RNA 8]",H19 imprinted maternally expressed transcript,Non-coding RNA,11p15.5,Role in the phenotype of,Assessed,,103280,ENSG00000130600,,,,HGNC:4713 +GARD:0007892,Orphanet,654,ORPHA:654,9,TRIM28,"[KAP1, PPP1R157, RNF96, TF1B, TIF1B, protein phosphatase 1, regulatory subunit 157]",tripartite motif containing 28,gene with protein product,19q13.43,Disease-causing germline mutation(s) in,Assessed,[PMID:29912901],601742,ENSG00000130726,2253,Q13263,Q13263,HGNC:16384 +GARD:0007892,Orphanet,654,ORPHA:654,9,TRIM28,"[KAP1, PPP1R157, RNF96, TF1B, TIF1B, protein phosphatase 1, regulatory subunit 157]",tripartite motif containing 28,gene with protein product,19q13.43,Disease-causing somatic mutation(s) in,Assessed,[PMID:29912901],601742,ENSG00000130726,2253,Q13263,Q13263,HGNC:16384 +GARD:0007892,Orphanet,654,ORPHA:654,9,WT1,"[AWT1, NPHS4, WAGR, WIT-2]",WT1 transcription factor,gene with protein product,11p13,Disease-causing somatic mutation(s) in,Assessed,,607102,ENSG00000184937,,P19544,P19544,HGNC:12796 +GARD:0007892,Orphanet,654,ORPHA:654,9,WT1,"[AWT1, NPHS4, WAGR, WIT-2]",WT1 transcription factor,gene with protein product,11p13,Major susceptibility factor in,Assessed,,607102,ENSG00000184937,,P19544,P19544,HGNC:12796 +GARD:0007892,Orphanet,654,ORPHA:654,9,REST,"[NRSF, XBR, neuron-restrictive silencer factor]",RE1 silencing transcription factor,gene with protein product,4q12,Major susceptibility factor in,Assessed,[PMID:26551668],600571,ENSG00000084093,,Q13127,Q13127,HGNC:9966 +GARD:0007892,Orphanet,654,ORPHA:654,9,POU6F2,"[RPF-1, Retina-derived POU-domain factor-1]",POU class 6 homeobox 2,gene with protein product,7p14.1,Major susceptibility factor in,Assessed,,609062,ENSG00000106536,,P78424,P78424,HGNC:21694 +GARD:0007892,Orphanet,654,ORPHA:654,9,GPC3,"[DGSX, OCI-5, SGB, SGBS, SGBS1, glypican proteoglycan 3]",glypican 3,gene with protein product,Xq26.2,Biomarker tested in,Assessed,"[PMID:12085187, PMID:25366870]",300037,ENSG00000147257,2959,P51654,P51654,HGNC:4451 +GARD:0007892,Orphanet,654,ORPHA:654,9,BRCA2,"[BRCA1/BRCA2-containing complex, subunit 2, BRCC2, FAD, FAD1, XRCC11]",BRCA2 DNA repair associated,gene with protein product,13q13.1,Candidate gene tested in,Not yet assessed,[PMID:15689453],600185,ENSG00000139618,,P51587,P51587,HGNC:1101 +GARD:0007893,Orphanet,905,ORPHA:905,1,ATP7B,"[Wilson disease, copper pump 2, copper-transporting ATPase 2]",ATPase copper transporting beta,gene with protein product,13q14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22240481, PMID:23333878]",606882,ENSG00000123191,853,P35670,P35670,HGNC:870 +GARD:0007894,Orphanet+OMIM,277950,OMIM:277950,1,MMP14,"[MT1-MMP, membrane type 1 metalloprotease, membrane type 1-matrix metalloproteinase]",matrix metallopeptidase 14,gene with protein product,14q11.2,The molecular basis of the disorder is known,Unknown,,600754,ENSG00000157227,objectId:1638,P50281,P50281,HGNC:7160 +GARD:0007895,Orphanet,906,ORPHA:906,2,WIPF1,[WIP],WAS/WASL interacting protein family member 1,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22231303],602357,ENSG00000115935,,O43516,O43516,HGNC:12736 +GARD:0007895,Orphanet,906,ORPHA:906,2,WAS,"[WASP, WASPA, eczema-thrombocytopenia]",WASP actin nucleation promoting factor,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,,300392,ENSG00000015285,,P42768,P42768,HGNC:12731 +GARD:0007896,Orphanet,280,ORPHA:280,6,NELFA,[NELF-A],negative elongation factor complex member A,gene with protein product,4p16.3,Candidate gene tested in,Not yet assessed,,606026,ENSG00000185049,,Q9H3P2,Q9H3P2,HGNC:12768 +GARD:0007896,Orphanet,280,ORPHA:280,6,PIGG,"[FLJ20265, GPI ethanolamine phosphate transferase 2, GPI7, LAS21]",phosphatidylinositol glycan anchor biosynthesis class G,gene with protein product,4p16.3,Role in the phenotype of,Assessed,[PMID:26239400],616918,ENSG00000174227,,Q5H8A4,Q5H8A4,HGNC:25985 +GARD:0007896,Orphanet,280,ORPHA:280,6,CTBP1,"[BARS, brefeldin A-ribosylated substrate]",C-terminal binding protein 1,gene with protein product,4p16.3,Role in the phenotype of,Assessed,[PMID:26239400],602618,ENSG00000159692,,Q13363,Q13363,HGNC:2494 +GARD:0007896,Orphanet,280,ORPHA:280,6,CPLX1,[CPX-I],complexin 1,gene with protein product,4p16.3,Role in the phenotype of,Assessed,[PMID:26239400],605032,ENSG00000168993,,O14810,O14810,HGNC:2309 +GARD:0007896,Orphanet,280,ORPHA:280,6,NSD2,"[KMT3G, MMSET, multiple myeloma SET domain containing protein]",nuclear receptor binding SET domain protein 2,gene with protein product,4p16.3,Role in the phenotype of,Assessed,,602952,ENSG00000109685,,O96028,O96028,HGNC:12766 +GARD:0007896,Orphanet,280,ORPHA:280,6,LETM1,"[Mdm38 homolog (yeast), SLC55A1]",leucine zipper and EF-hand containing transmembrane protein 1,gene with protein product,4p16.3,Role in the phenotype of,Assessed,,604407,ENSG00000168924,3025,O95202,O95202,HGNC:6556 +GARD:0007898,Orphanet,3463,ORPHA:3463,2,CISD2,"[ERIS, Miner1, NAF-1, endoplasmic reticulum intermembrane small protein, mitoNEET related 1, nutrient-deprivation autophagy factor-1]",CDGSH iron sulfur domain 2,gene with protein product,4q24,Disease-causing germline mutation(s) in,Assessed,,611507,ENSG00000145354,,Q8N5K1,Q8N5K1,HGNC:24212 +GARD:0007898,Orphanet,3463,ORPHA:3463,2,WFS1,"[DIDMOAD, WFS]",wolframin ER transmembrane glycoprotein,gene with protein product,4p16.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12913071, PMID:16806192]",606201,ENSG00000109501,,O76024,O76024,HGNC:12762 +GARD:0007899,Orphanet,75233,ORPHA:75233,1,LIPA,"[CESD, LAL, Wolman disease, lysosomal acid lipase, sterol esterase]","lipase A, lysosomal acid type",gene with protein product,10q23.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22227072, PMID:26225414]",613497,ENSG00000107798,,P38571,P38571,HGNC:6617 +GARD:0007904,Orphanet,461,ORPHA:461,1,STS,"[ARSC, arylsulfatase C, steryl-sulfatase]",steroid sulfatase,gene with protein product,Xp22.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:10583107, PMID:10692123]",300747,ENSG00000101846,,P08842,P08842,HGNC:11425 +GARD:0007906,Orphanet,538931,ORPHA:538931,1,SH2D1A,"[DSHP, Duncan's disease, EBVS, MTCP1, SAP, XLP, XLPD]",SH2 domain containing 1A,gene with protein product,Xq25,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301580, PMID:28196537]",300490,ENSG00000183918,,O60880,O60880,HGNC:10820 +GARD:0007910,Orphanet,910,ORPHA:910,7,ERCC5,[Cockayne syndrome],"ERCC excision repair 5, endonuclease",gene with protein product,13q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301571],133530,ENSG00000134899,,P28715,P28715,HGNC:3437 +GARD:0007910,Orphanet,910,ORPHA:910,7,ERCC4,"[FANCQ, RAD1, xeroderma pigmentosum, complementation group F]","ERCC excision repair 4, endonuclease catalytic subunit",gene with protein product,16p13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301571],133520,ENSG00000175595,,Q92889,Q92889,HGNC:3436 +GARD:0007910,Orphanet,910,ORPHA:910,7,ERCC2,"[EM9, MAG, MGC102762, MGC126218, MGC126219, TFIIH, TFIIH basal transcription factor complex helicase XPB subunit, excision repair cross-complementing rodent repair deficiency, complementation group 2 protein]","ERCC excision repair 2, TFIIH core complex helicase subunit",gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301571],126340,ENSG00000104884,,P18074,P18074,HGNC:3434 +GARD:0007910,Orphanet,910,ORPHA:910,7,XPA,"[XP1, XPAC]","XPA, DNA damage recognition and repair factor",gene with protein product,9q22.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20301571],611153,ENSG00000136936,,P23025,P23025,HGNC:12814 +GARD:0007910,Orphanet,910,ORPHA:910,7,DDB2,"[DDB p48 subunit, DDBB, FLJ34321, UV-DDB2, UV-damaged DNA-binding protein 2, XPE, xeroderma pigmentosum group E protein]",damage specific DNA binding protein 2,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301571],600811,ENSG00000134574,,Q92466,Q92466,HGNC:2718 +GARD:0007910,Orphanet,910,ORPHA:910,7,XPC,"[RAD4, XPCC, xeroderma pigmentosum group C protein]","XPC complex subunit, DNA damage recognition and repair factor",gene with protein product,3p25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301571],613208,ENSG00000154767,,Q01831,Q01831,HGNC:12816 +GARD:0007910,Orphanet,910,ORPHA:910,7,ERCC3,"[BTF2, GTF2H, RAD25, Ssl2, TFIIH, XPB, xeroderma pigmentosum group B complementing]","ERCC excision repair 3, TFIIH core complex helicase subunit",gene with protein product,2q14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301571],133510,ENSG00000163161,,P19447,P19447,HGNC:3435 +GARD:0007917,Orphanet,912,ORPHA:912,13,PEX3,,peroxisomal biogenesis factor 3,gene with protein product,6q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301621],603164,ENSG00000034693,,P56589,P56589,HGNC:8858 +GARD:0007917,Orphanet,912,ORPHA:912,13,PEX13,,peroxisomal biogenesis factor 13,gene with protein product,2p15,Disease-causing germline mutation(s) in,Assessed,[PMID:20301621],601789,ENSG00000162928,,Q92968,Q92968,HGNC:8855 +GARD:0007917,Orphanet,912,ORPHA:912,13,PEX1,,peroxisomal biogenesis factor 1,gene with protein product,7q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301621],602136,ENSG00000127980,,O43933,,HGNC:8850 +GARD:0007917,Orphanet,912,ORPHA:912,13,PEX11B,,peroxisomal biogenesis factor 11 beta,gene with protein product,1q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22581968],603867,ENSG00000131779,,O96011,O96011,HGNC:8853 +GARD:0007917,Orphanet,912,ORPHA:912,13,PEX6,"[PAF-2, PXAAA1]",peroxisomal biogenesis factor 6,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301621],601498,ENSG00000124587,,Q13608,,HGNC:8859 +GARD:0007917,Orphanet,912,ORPHA:912,13,PEX19,"[D1S2223E, HK33, PMP1, PMPI, PXMP1, housekeeping gene, 33kD]",peroxisomal biogenesis factor 19,gene with protein product,1q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301621],600279,ENSG00000162735,,P40855,P40855,HGNC:9713 +GARD:0007917,Orphanet,912,ORPHA:912,13,PEX10,[RNF69],peroxisomal biogenesis factor 10,gene with protein product,1p36.32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301621],602859,ENSG00000157911,,O60683,O60683,HGNC:8851 +GARD:0007917,Orphanet,912,ORPHA:912,13,PEX5,"[PTS1R, peroxisomal import receptor 5, peroxisomal targeting signal 1 receptor]",peroxisomal biogenesis factor 5,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301621],600414,ENSG00000139197,,P50542,P50542,HGNC:9719 +GARD:0007917,Orphanet,912,ORPHA:912,13,PEX26,[FLJ20695],peroxisomal biogenesis factor 26,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:20301621],608666,ENSG00000215193,,Q7Z412,Q7Z412,HGNC:22965 +GARD:0007917,Orphanet,912,ORPHA:912,13,PEX2,"[PAF-1, PMP35, RNF72, ZWS3, Zellweger syndrome, peroxin 2]",peroxisomal biogenesis factor 2,gene with protein product,8q21.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301621],170993,ENSG00000164751,,P28328,P28328,HGNC:9717 +GARD:0007917,Orphanet,912,ORPHA:912,13,PEX16,,peroxisomal biogenesis factor 16,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301621],603360,ENSG00000121680,,Q9Y5Y5,Q9Y5Y5,HGNC:8857 +GARD:0007917,Orphanet,912,ORPHA:912,13,PEX14,,peroxisomal biogenesis factor 14,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,[PMID:20301621],601791,ENSG00000142655,,O75381,O75381,HGNC:8856 +GARD:0007917,Orphanet,912,ORPHA:912,13,PEX12,,peroxisomal biogenesis factor 12,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301621],601758,ENSG00000108733,,O00623,O00623,HGNC:8854 +GARD:0008173,Orphanet,15,ORPHA:15,1,FGFR3,"[CD333, CEK2, JTK4]",fibroblast growth factor receptor 3,gene with protein product,4p16.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:23149434],134934,ENSG00000068078,1810,P22607,P22607,HGNC:3690 +GARD:0008178,Orphanet+OMIM,604379,OMIM:604379,1,LIPH,"[LPDLR, PLA1B, mPA-PLA1, mPA-PLA1alpha, phospholipase A(1)]",lipase H,gene with protein product,3q27.2,The molecular basis of the disorder is known,Unknown,,607365,ENSG00000163898,,Q8WWY8,Q8WWY8,HGNC:18483 +GARD:0008182,Orphanet,3250,ORPHA:3250,2,NOG,,noggin,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:11846737, PMID:24326127]",602991,ENSG00000183691,,Q13253,Q13253,HGNC:7866 +GARD:0008182,Orphanet,3250,ORPHA:3250,2,GDF5,"[BMP14, CDMP1, cartilage-derived morphogenetic protein-1]",growth differentiation factor 5,gene with protein product,20q11.22,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:16892395, PMID:18283415]",601146,ENSG00000125965,,P43026,P43026,HGNC:4220 +GARD:0008197,Orphanet,819,ORPHA:819,4,FLII,"[FLI, FLIL, Fli1, MGC39265]",FLII actin remodeling protein,gene with protein product,17p11.2,Candidate gene tested in,Not yet assessed,"[PMID:15690371, PMID:7825574, PMID:9177775]",600362,ENSG00000177731,,Q13045,,HGNC:3750 +GARD:0008197,Orphanet,819,ORPHA:819,4,IQSEC2,"[BRAG1, IQ-ArfGEF, KIAA0522, brefeldin A resistant Arf-guanine nucleotide exchange factor 1]",IQ motif and Sec7 domain ArfGEF 2,gene with protein product,Xp11.22,Candidate gene tested in,Not yet assessed,[PMID:28213671],300522,ENSG00000124313,,Q5JU85,,HGNC:29059 +GARD:0008197,Orphanet,819,ORPHA:819,4,RAI1,"[DKFZP434A139, KIAA1820, MGC12824, SMS]",retinoic acid induced 1,gene with protein product,17p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301487],607642,ENSG00000108557,,Q7Z5J4,Q7Z5J4,HGNC:9834 +GARD:0008197,Orphanet,819,ORPHA:819,4,DEAF1,"[NUDR, SPN, ZMYND5]",DEAF1 transcription factor,gene with protein product,11p15.5,Candidate gene tested in,Not yet assessed,[PMID:28213671],602635,ENSG00000177030,,O75398,O75398,HGNC:14677 +GARD:0008198,Orphanet,39041,ORPHA:39041,9,RAG2,,recombination activating 2,gene with protein product,11p12,Disease-causing germline mutation(s) in,Assessed,,179616,ENSG00000175097,,P55895,P55895,HGNC:9832 +GARD:0008198,Orphanet,39041,ORPHA:39041,9,RAG1,"[MGC43321, RING finger protein 74, RNF74, V(D)J recombination-activating protein 1, recombination activating protein 1]",recombination activating 1,gene with protein product,11p12,Disease-causing germline mutation(s) in,Assessed,,179615,ENSG00000166349,,P15918,P15918,HGNC:9831 +GARD:0008198,Orphanet,39041,ORPHA:39041,9,CHD7,"[FLJ20357, FLJ20361, KIAA1416]",chromodomain helicase DNA binding protein 7,gene with protein product,8q12.2,Disease-causing germline mutation(s) in,Assessed,,608892,ENSG00000171316,,Q9P2D1,,HGNC:20626 +GARD:0008198,Orphanet,39041,ORPHA:39041,9,RMRP,"[NME1, RMRPR, RRP2]",RNA component of mitochondrial RNA processing endoribonuclease,Non-coding RNA,9p13.3,Disease-causing germline mutation(s) in,Assessed,,157660,ENSG00000277027,,,,HGNC:10031 +GARD:0008198,Orphanet,39041,ORPHA:39041,9,LIG4,"[DNA joinase, DNA repair enzyme, polydeoxyribonucleotide synthase [ATP] 4, polynucleotide ligase, sealase]",DNA ligase 4,gene with protein product,13q33.3,Disease-causing germline mutation(s) in,Assessed,,601837,ENSG00000174405,,P49917,P49917,HGNC:6601 +GARD:0008198,Orphanet,39041,ORPHA:39041,9,IL7R,"[CD127, IL7RA]",interleukin 7 receptor,gene with protein product,5p13.2,Disease-causing germline mutation(s) in,Assessed,,146661,ENSG00000168685,1698,P16871,P16871,HGNC:6024 +GARD:0008198,Orphanet,39041,ORPHA:39041,9,DCLRE1C,"[A-SCID, ARTEMIS, FLJ11360, PSO2 homolog (S. cerevisiae), SNM1C]",DNA cross-link repair 1C,gene with protein product,10p13,Disease-causing germline mutation(s) in,Assessed,,605988,ENSG00000152457,,Q96SD1,Q96SD1,HGNC:17642 +GARD:0008198,Orphanet,39041,ORPHA:39041,9,ADA,[ADA1],adenosine deaminase,gene with protein product,20q13.12,Disease-causing germline mutation(s) in,Assessed,,608958,ENSG00000196839,1230,P00813,P00813,HGNC:186 +GARD:0008198,Orphanet,39041,ORPHA:39041,9,IL2RG,[CD132],interleukin 2 receptor subunit gamma,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,,308380,ENSG00000147168,2303,P31785,P31785,HGNC:6010 +GARD:0008214,Orphanet,501,ORPHA:501,2,NHLRC1,"[EPM2B, bA204B7.2, epilepsy, progressive myoclonus type 2B, malin]",NHL repeat containing E3 ubiquitin protein ligase 1,gene with protein product,6p22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301563, PMID:22047982, PMID:22669944]",608072,ENSG00000187566,,Q6VVB1,Q6VVB1,HGNC:21576 +GARD:0008214,Orphanet,501,ORPHA:501,2,EPM2A,"[LD, LDE]","EPM2A glucan phosphatase, laforin",gene with protein product,6q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301563, PMID:22047982, PMID:22669944]",607566,ENSG00000112425,,O95278,O95278,HGNC:3413 +GARD:0008225,Orphanet,98823,ORPHA:98823,4,PDGFRB,"[CD140b, JTK12, PDGFR1]",platelet derived growth factor receptor beta,gene with protein product,5q32,Part of a fusion gene in,Assessed,"[PMID:7742547, PMID:8168137]",173410,ENSG00000113721,1804,P09619,P09619,HGNC:8804 +GARD:0008225,Orphanet,98823,ORPHA:98823,4,ASXL1,[KIAA0978],ASXL transcriptional regulator 1,gene with protein product,20q11.21,Candidate gene tested in,Not yet assessed,[PMID:31723789],612990,ENSG00000171456,,Q8IXJ9,Q8IXJ9,HGNC:18318 +GARD:0008225,Orphanet,98823,ORPHA:98823,4,ETV6,"[TEL, TEL oncogene]",ETS variant transcription factor 6,gene with protein product,12p13.2,Part of a fusion gene in,Assessed,"[PMID:7742547, PMID:8168137]",600618,ENSG00000139083,,P41212,P41212,HGNC:3495 +GARD:0008225,Orphanet,98823,ORPHA:98823,4,SRSF2,"[PR264, SC-35, SC35, SFRS2A, SR splicing factor 2]",serine and arginine rich splicing factor 2,gene with protein product,17q25.2,Candidate gene tested in,Not yet assessed,[PMID:31723789],600813,ENSG00000161547,,Q01130,Q01130,HGNC:10783 +GARD:0008238,Orphanet,251899,ORPHA:251899,1,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21445348],191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0008241,Orphanet,158029,ORPHA:158029,1,APOE,,apolipoprotein E,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:11095479, PMID:24921113]",107741,ENSG00000130203,,P02649,P02649,HGNC:613 +GARD:0008249,Orphanet,75564,ORPHA:75564,2,TET2,"[FLJ20032, ten-eleven translocation 2]",tet methylcytosine dioxygenase 2,gene with protein product,4q24,Disease-causing somatic mutation(s) in,Assessed,"[PMID:19483684, PMID:19557078]",612839,ENSG00000168769,,Q6N021,Q6N021,HGNC:25941 +GARD:0008249,Orphanet,75564,ORPHA:75564,2,SF3B1,"[Hsh155, PRPF10, Prp10, SAP155, SF3b155]",splicing factor 3b subunit 1,gene with protein product,2q33.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:24507814],605590,ENSG00000115524,,O75533,O75533,HGNC:10768 +GARD:0008275,Orphanet,50943,ORPHA:50943,1,CTSB,,cathepsin B,gene with protein product,8p23.1,Role in the phenotype of,Assessed,[PMID:28457472],116810,ENSG00000164733,2343,P07858,P07858,HGNC:2527 +GARD:0008283,Orphanet+OMIM,606129,OMIM:606129,1,DBA2,,Diamond-Blackfan anemia 2,unknown,8p23.3-p22,The disease phenotype itself was mapped,Unknown,,606129,,,,,GeneID:114086 +GARD:0008295,Orphanet,1460,ORPHA:1460,11,LYRM7,"[FLJ20796, MZM1L]",LYR motif containing 7,gene with protein product,5q23.3-q31.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:24014394, PMID:25914718]",615831,ENSG00000186687,,Q5U5X0,Q5U5X0,HGNC:28072 +GARD:0008295,Orphanet,1460,ORPHA:1460,11,MT-CYB,"[COB, CYTB, UQCR3]",mitochondrially encoded cytochrome b,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:20862300, PMID:25914718]",516020,ENSG00000198727,,P00156,P00156,HGNC:7427 +GARD:0008295,Orphanet,1460,ORPHA:1460,11,UQCC3,[UNQ655],ubiquinol-cytochrome c reductase complex assembly factor 3,gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:25008109, PMID:25914718]",616097,ENSG00000204922,,Q6UW78,,HGNC:34399 +GARD:0008295,Orphanet,1460,ORPHA:1460,11,UQCRFS1,"[RIP1, RIS1, RISP, UQCR5, cytochrome b-c1 complex subunit 5]","ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1",gene with protein product,19q12,Disease-causing germline mutation(s) in,Assessed,[PMID:32001716],191327,ENSG00000169021,,P47985,P47985,HGNC:12587 +GARD:0008295,Orphanet,1460,ORPHA:1460,11,UQCC2,"[Cbp6, M19, MGC14833, bA6B20.2, cytochrome B protein synthesis 6 homolog (S. cerevisiae)]",ubiquinol-cytochrome c reductase complex assembly factor 2,gene with protein product,6p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:24385928, PMID:25914718]",614461,ENSG00000137288,,Q9BRT2,Q9BRT2,HGNC:21237 +GARD:0008295,Orphanet,1460,ORPHA:1460,11,UQCRB,"[QCR7, QP-C, UQCR6, cytochrome b-c1 complex subunit 7, ubiquinol-cytochrome c reductase, complex III subunit VI]",ubiquinol-cytochrome c reductase binding protein,gene with protein product,8q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:12709789, PMID:25914718]",191330,ENSG00000156467,,P14927,P14927,HGNC:12582 +GARD:0008295,Orphanet,1460,ORPHA:1460,11,UQCRQ,"[QCR8, QP-C, UQCR7, complex III subunit 8, ubiquinol-cytochrome c reductase, complex III subunit VII]",ubiquinol-cytochrome c reductase complex III subunit VII,gene with protein product,5q31.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18439546, PMID:25914718]",612080,ENSG00000164405,,O14949,O14949,HGNC:29594 +GARD:0008295,Orphanet,1460,ORPHA:1460,11,CYC1,[UQCR4],cytochrome c1,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:23910460, PMID:25914718]",123980,ENSG00000179091,,P08574,P08574,HGNC:2579 +GARD:0008295,Orphanet,1460,ORPHA:1460,11,TTC19,"[FLJ20343, MGC19520]",tetratricopeptide repeat domain 19,gene with protein product,17p12,Disease-causing germline mutation(s) in,Assessed,"[PMID:21278747, PMID:25914718]",613814,ENSG00000011295,,Q6DKK2,,HGNC:26006 +GARD:0008295,Orphanet,1460,ORPHA:1460,11,BCS1L,"[BCS, BJS, Bjornstad syndrome, GRACILE syndrome, Hs.6719, h-BCS]","BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone",gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,"[PMID:17403714, PMID:19162478, PMID:25914718]",603647,ENSG00000074582,,Q9Y276,Q9Y276,HGNC:1020 +GARD:0008295,Orphanet,1460,ORPHA:1460,11,UQCRC2,"[QCR2, UQCR2]",ubiquinol-cytochrome c reductase core protein 2,gene with protein product,16p12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:23281071, PMID:25914718]",191329,ENSG00000140740,,P22695,P22695,HGNC:12586 +GARD:0008309,Orphanet,988,ORPHA:988,2,SHH,"[HHG1, MCOPCB5, SMMCI, TPT, TPTPS]",sonic hedgehog signaling molecule,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:9600232],600725,ENSG00000164690,,Q15465,Q15465,HGNC:10848 +GARD:0008309,Orphanet,988,ORPHA:988,2,LMBR1,"[ACHP, FLJ11665, ZRS]",limb development membrane protein 1,gene with protein product,7q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19847792],605522,ENSG00000105983,,Q8WVP7,,HGNC:13243 +GARD:0008312,Orphanet,52530,ORPHA:52530,1,GP1BA,"[CD42b, GPIbalpha, platelet glycoprotein Ib alpha chain]",glycoprotein Ib platelet subunit alpha,gene with protein product,17p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:2052556],606672,ENSG00000185245,,P07359,P07359,HGNC:4439 +GARD:0008329,Orphanet,56304,ORPHA:56304,1,SLC26A2,[DTDST],solute carrier family 26 member 2,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301493],606718,ENSG00000155850,1098,P50443,P50443,HGNC:10994 +GARD:0008331,Orphanet,52368,ORPHA:52368,1,TIMM8A,"[DDP, MTS]",translocase of inner mitochondrial membrane 8A,gene with protein product,Xq22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:11956200, PMID:20301395]",300356,ENSG00000126953,,O60220,O60220,HGNC:11817 +GARD:0008333,Orphanet,69739,ORPHA:69739,1,HOXA1,,homeobox A1,gene with protein product,7p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18412118],142955,ENSG00000105991,,P49639,P49639,HGNC:5099 +GARD:0008334,Orphanet,98902,ORPHA:98902,1,TNNT1,"[ANM, FLJ98147, MGC104241, NEM5, STNT, TNT, TNTS, nemaline myopathy type 5, slow skeletal muscle troponin T, troponin T1, skeletal, slow]","troponin T1, slow skeletal type",gene with protein product,19q13.42,Disease-causing germline mutation(s) in,Assessed,[PMID:10952871],191041,ENSG00000105048,,P13805,P13805,HGNC:11948 +GARD:0008341,Orphanet,559,ORPHA:559,2,INPP5K,"[SKIP, skeletal muscle and kidney enriched inositol phosphatase]",inositol polyphosphate-5-phosphatase K,gene with protein product,17p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:28190456, PMID:28190459]",607875,ENSG00000132376,1458,Q9BT40,R-HSA-1806175,HGNC:33882 +GARD:0008341,Orphanet,559,ORPHA:559,2,SIL1,"[BAP, ULG5]",SIL1 nucleotide exchange factor,gene with protein product,5q31.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:16650075, PMID:20301371]",608005,ENSG00000120725,,Q9H173,,HGNC:24624 +GARD:0008344,Orphanet,97345,ORPHA:97345,1,ITM2B,"[BRI, BRI2, BRICD2B, BRICHOS domain containing 2B, E25B, E3-16]",integral membrane protein 2B,gene with protein product,13q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:10391242],603904,ENSG00000136156,,Q9Y287,Q9Y287,HGNC:6174 +GARD:0008345,Orphanet,220436,ORPHA:220436,1,PLAU,"[UPA, URK]","plasminogen activator, urokinase",gene with protein product,10q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20007542],191840,ENSG00000122861,2393,P00749,P00749,HGNC:9052 +GARD:0008349,Orphanet,100033,ORPHA:100033,7,MMP20,[enamelysin],matrix metallopeptidase 20,gene with protein product,11q22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:15744043],604629,ENSG00000137674,1643,O60882,O60882,HGNC:7167 +GARD:0008349,Orphanet,100033,ORPHA:100033,7,SLC24A4,[NCKX4],solute carrier family 24 member 4,gene with protein product,14q32.12,Disease-causing germline mutation(s) in,Assessed,[PMID:24621671],609840,ENSG00000140090,1048,Q8NFF2,Q8NFF2,HGNC:10978 +GARD:0008349,Orphanet,100033,ORPHA:100033,7,KLK4,"[EMSP, EMSP1, KLK-L1, PSTS, enamel matrix serine proteinase 1]",kallikrein related peptidase 4,gene with protein product,19q13.41,Disease-causing germline mutation(s) in,Assessed,[PMID:21597265],603767,ENSG00000167749,2374,Q9Y5K2,,HGNC:6365 +GARD:0008349,Orphanet,100033,ORPHA:100033,7,AMELX,[amelogenesis imperfecta 1],amelogenin X-linked,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23251683],300391,ENSG00000125363,,Q99217,Q99217,HGNC:461 +GARD:0008349,Orphanet,100033,ORPHA:100033,7,GPR68,[OGR1],G protein-coupled receptor 68,gene with protein product,14q32.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27693231],601404,ENSG00000119714,114,Q15743,Q15743,HGNC:4519 +GARD:0008349,Orphanet,100033,ORPHA:100033,7,WDR72,[FLJ38736],WD repeat domain 72,gene with protein product,15q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19853237],613214,ENSG00000166415,,Q3MJ13,,HGNC:26790 +GARD:0008349,Orphanet,100033,ORPHA:100033,7,ODAPH,"[AI2A4, FLJ23657, amelogenesis imperfecta type IIA4]",odontogenesis associated phosphoprotein,gene with protein product,4q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22901946],614829,ENSG00000174792,,Q17RF5,,HGNC:26300 +GARD:0008367,Orphanet,93324,ORPHA:93324,1,TBCE,"[KCS1, pac2]",tubulin folding cofactor E,gene with protein product,1q42.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12389028],604934,ENSG00000284770,,Q15813,Q15813,HGNC:11582 +GARD:0008370,Orphanet,70472,ORPHA:70472,1,LRPPRC,"[GP130, LRP130]",leucine rich pentatricopeptide repeat containing,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,[PMID:12529507],607544,ENSG00000138095,,P42704,P42704,HGNC:15714 +GARD:0008378,Orphanet,731,ORPHA:731,2,PKHD1,"[ARPKD, FCYT, FPC, fibrocystin, fibrocystin/polyductin complex, polyductin, tigmin]",PKHD1 ciliary IPT domain containing fibrocystin/polyductin,gene with protein product,6p12.3-p12.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301501],606702,ENSG00000170927,,P08F94,,HGNC:9016 +GARD:0008378,Orphanet,731,ORPHA:731,2,DZIP1L,"[DZIP2, FLJ32844]",DAZ interacting zinc finger protein 1 like,gene with protein product,3q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28530676],617570,ENSG00000158163,,Q8IYY4,Q8IYY4,HGNC:26551 +GARD:0008380,Orphanet,51608,ORPHA:51608,2,ABCC6,"[EST349056, MLP1, MRP6, URG7]",ATP binding cassette subfamily C member 6,gene with protein product,16p13.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:22209248, PMID:25392903]",603234,ENSG00000091262,784,O95255,O95255,HGNC:57 +GARD:0008380,Orphanet,51608,ORPHA:51608,2,ENPP1,"[PC-1, PCA1]",ectonucleotide pyrophosphatase/phosphodiesterase 1,gene with protein product,6q23.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25392903],173335,ENSG00000197594,,P22413,P22413,HGNC:3356 +GARD:0008387,Orphanet,20,ORPHA:20,1,HMGCL,"[HL, hydroxymethylglutaricaciduria, hydroxymethylglutaryl-CoA lyase]",3-hydroxy-3-methylglutaryl-CoA lyase,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:19177531],613898,ENSG00000117305,,P35914,P35914,HGNC:5005 +GARD:0008391,Orphanet,664,ORPHA:664,1,OTC,"[OTCD, OTCase, ornithine transcarbamylase deficiency]",ornithine transcarbamylase,gene with protein product,Xp11.4,Disease-causing germline mutation(s) in,Assessed,[PMID:24006547],300461,ENSG00000036473,,P00480,P00480,HGNC:8512 +GARD:0008397,Orphanet,168598,ORPHA:168598,1,MAT1A,"[MAT, MATA1, S-adenosylmethionine synthetase, SAMS, SAMS1]",methionine adenosyltransferase 1A,gene with protein product,10q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22951388],610550,ENSG00000151224,,Q00266,Q00266,HGNC:6903 +GARD:0008410,Orphanet,246,ORPHA:246,1,DHODH,,dihydroorotate dehydrogenase (quinone),gene with protein product,16q22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19915526],126064,ENSG00000102967,2604,Q02127,Q02127,HGNC:2867 +GARD:0008414,Orphanet,888,ORPHA:888,2,GRHL3,"[SOM, sister-of-mammalian grainyhead]",grainyhead like transcription factor 3,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:24360809],608317,ENSG00000158055,,Q8TE85,Q8TE85,HGNC:25839 +GARD:0008414,Orphanet,888,ORPHA:888,2,IRF6,"[OFC6, VWS1]",interferon regulatory factor 6,gene with protein product,1q32.2,Disease-causing germline mutation(s) in,Assessed,,607199,ENSG00000117595,,O14896,O14896,HGNC:6121 +GARD:0008419,Orphanet,137902,ORPHA:137902,1,PAX6,"[AN, Aniridia 1, Aniridia 2, D11S812E, WAGR, aniridia, keratitis]",paired box 6,gene with protein product,11p13,Disease-causing germline mutation(s) in,Assessed,[PMID:12721955],607108,ENSG00000007372,,P26367,P26367,HGNC:8620 +GARD:0008422,Orphanet,709,ORPHA:709,1,B3GLCT,"[B3GTL, B3Glc-T, beta-1,3-glucosyltransferase]",beta 3-glucosyltransferase,gene with protein product,13q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301637],610308,ENSG00000187676,,Q6Y288,Q6Y288,HGNC:20207 +GARD:0008424,Orphanet,42062,ORPHA:42062,4,SLC6A19,[Hartnup disease],solute carrier family 6 member 19,gene with protein product,5p15.33,Candidate gene tested in,Not yet assessed,[PMID:19033659],608893,ENSG00000174358,939,Q695T7,Q695T7,HGNC:27960 +GARD:0008424,Orphanet,42062,ORPHA:42062,4,SLC6A18,"[FLJ31236, Xtrp2]",solute carrier family 6 member 18,gene with protein product,5p15.33,Candidate gene tested in,Not yet assessed,[PMID:19033659],610300,ENSG00000164363,941,Q96N87,Q96N87,HGNC:26441 +GARD:0008424,Orphanet,42062,ORPHA:42062,4,SLC36A2,"[PAT2, TRAMD1, tramdorin]",solute carrier family 36 member 2,gene with protein product,5q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19033659],608331,ENSG00000186335,1162,Q495M3,Q495M3,HGNC:18762 +GARD:0008424,Orphanet,42062,ORPHA:42062,4,SLC6A20,"[IMINO, SIT1, XT3, Xtrp3, sodium-dependent imino acid transporter 1]",solute carrier family 6 member 20,gene with protein product,3p21.31,Candidate gene tested in,Not yet assessed,[PMID:19033659],605616,ENSG00000163817,944,Q9NP91,Q9NP91,HGNC:30927 +GARD:0008426,Orphanet,95720,ORPHA:95720,3,TSHR,[LGR3],thyroid stimulating hormone receptor,gene with protein product,14q24-q31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:25153578, PMID:25905381]",603372,ENSG00000165409,255,P16473,P16473,HGNC:12373 +GARD:0008426,Orphanet,95720,ORPHA:95720,3,PAX8,,paired box 8,gene with protein product,2q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:11232006, PMID:11502839, PMID:25146893, PMID:25905381]",167415,ENSG00000125618,,Q06710,Q06710,HGNC:8622 +GARD:0008426,Orphanet,95720,ORPHA:95720,3,SLC26A4,"[PDS, pendrin]",solute carrier family 26 member 4,gene with protein product,7q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24248179],605646,ENSG00000091137,1100,O43511,O43511,HGNC:8818 +GARD:0008427,Orphanet,34592,ORPHA:34592,4,TAP1,"[D6S114E, PSF1, RING4]","transporter 1, ATP binding cassette subfamily B member",gene with protein product,6p21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:10074494],170260,ENSG00000168394,769,Q03518,Q03518,HGNC:43 +GARD:0008427,Orphanet,34592,ORPHA:34592,4,TAP2,"[D6S217E, PSF2, RING11]","transporter 2, ATP binding cassette subfamily B member",gene with protein product,6p21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:10560675],170261,ENSG00000204267,770,Q03519,Q03519,HGNC:44 +GARD:0008427,Orphanet,34592,ORPHA:34592,4,B2M,,beta-2-microglobulin,gene with protein product,15q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25702838],109700,ENSG00000166710,,P61769,P61769,HGNC:914 +GARD:0008427,Orphanet,34592,ORPHA:34592,4,TAPBP,"[TAPA, tapasin]",TAP binding protein,gene with protein product,6p21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:12149238],601962,ENSG00000231925,,O15533,O15533,HGNC:11566 +GARD:0008432,Orphanet,168572,ORPHA:168572,1,STAC3,[MGC2793],SH3 and cysteine rich domain 3,gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23736855],615521,ENSG00000185482,,Q96MF2,Q96MF2,HGNC:28423 +GARD:0008433,Orphanet,99741,ORPHA:99741,1,RYR1,"[PPP1R137, RYR, protein phosphatase 1, regulatory subunit 137]",ryanodine receptor 1,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:18765655, PMID:21514828]",180901,ENSG00000196218,747,P21817,P21817,HGNC:10483 +GARD:0008435,Orphanet,2856,ORPHA:2856,2,AMHR2,"[MISR2, MISRII, Muellerian inhibiting substance type II receptor]",anti-Mullerian hormone receptor type 2,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:23295284],600956,ENSG00000135409,1793,Q16671,Q16671,HGNC:465 +GARD:0008435,Orphanet,2856,ORPHA:2856,2,AMH,[MIS],anti-Mullerian hormone,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23295284],600957,ENSG00000104899,,P03971,P03971,HGNC:464 +GARD:0008449,Orphanet,85202,ORPHA:85202,1,MGP,,matrix Gla protein,gene with protein product,12p12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:15810001, PMID:9916809]",154870,ENSG00000111341,,P08493,,HGNC:7060 +GARD:0008457,Orphanet,32960,ORPHA:32960,1,TNFRSF1A,"[CD120a, TNF-R, TNF-R-I, TNF-R55, TNFAR, TNFR60]",TNF receptor superfamily member 1A,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:22059991],191190,ENSG00000067182,1870,P19438,P19438,HGNC:11916 +GARD:0008466,Orphanet,3453,ORPHA:3453,1,AIRE,"[APS1, PGA1, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy]",autoimmune regulator,gene with protein product,21q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22460196, PMID:23342054]",607358,ENSG00000160224,,O43918,O43918,HGNC:360 +GARD:0008468,Orphanet,252206,ORPHA:252206,1,CDKN2A,"[ARF, CDK4I, CMM2, INK4, INK4a, MTS1, p14, p14ARF, p16, p16INK4a, p19, p19Arf]",cyclin dependent kinase inhibitor 2A,gene with protein product,9p21.3,Candidate gene tested in,Not yet assessed,[PMID:11136714],600160,ENSG00000147889,,P42771,P42771,HGNC:1787 +GARD:0008471,Orphanet,54,ORPHA:54,2,GPR143,[ocular albinism 1],G protein-coupled receptor 143,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,,300808,ENSG00000101850,203,P51810,P51810,HGNC:20145 +GARD:0008471,Orphanet,54,ORPHA:54,2,AP3D1,[ADTD],adaptor related protein complex 3 subunit delta 1,gene with protein product,19p13.3,Candidate gene tested in,Not yet assessed,,607246,ENSG00000065000,,O14617,,HGNC:568 +GARD:0008472,Orphanet,575,ORPHA:575,1,NLRP3,"[AGTAVPRL, AII, AVP, CLR1.1, Cryopyrin, FCAS, FCU, MWS, NALP3, PYPAF1, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3]",NLR family pyrin domain containing 3,gene with protein product,1q44,Disease-causing germline mutation(s) in,Assessed,[PMID:11687797],606416,ENSG00000162711,1770,Q96P20,Q96P20,HGNC:16400 +GARD:0008476,Orphanet,99718,ORPHA:99718,3,MT-ND4,"[NAD4, NADH-ubiquinone oxidoreductase chain 4, ND4, complex I ND4 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:8644732],516003,ENSG00000198886,,P03905,P03905,HGNC:7459 +GARD:0008476,Orphanet,99718,ORPHA:99718,3,MT-ND3,"[NAD3, NADH-ubiquinone oxidoreductase chain 3, ND3, complex I ND3 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,[PMID:19458970],516002,ENSG00000198840,,P03897,P03897,HGNC:7458 +GARD:0008476,Orphanet,99718,ORPHA:99718,3,MT-ND6,"[NAD6, NADH-ubiquinone oxidoreductase chain 6, ND6, complex I ND6 subunit]",mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6,gene with protein product,mitochondria,Disease-causing germline mutation(s) in,Assessed,"[PMID:8016139, PMID:8644732]",516006,ENSG00000198695,,P03923,P03923,HGNC:7462 +GARD:0008480,Orphanet,90349,ORPHA:90349,3,LTBP1,[TGF-beta1-BP-1],latent transforming growth factor beta binding protein 1,gene with protein product,2p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:33991472],150390,ENSG00000049323,,Q14766,,HGNC:6714 +GARD:0008480,Orphanet,90349,ORPHA:90349,3,FBLN5,"[ARMD3, DANCE, EVEC, UP50, developmental arteries and neural crest EGF-like, embryonic vascular EGF-like repeat-containing protein]",fibulin 5,gene with protein product,14q32.12,Disease-causing germline mutation(s) in,Assessed,[PMID:22829427],604580,ENSG00000140092,,Q9UBX5,Q9UBX5,HGNC:3602 +GARD:0008480,Orphanet,90349,ORPHA:90349,3,EFEMP2,"[FBLN4, UPH1, fibulin 4]",EGF containing fibulin extracellular matrix protein 2,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:16685658, PMID:19664000]",604633,ENSG00000172638,,O95967,O95967,HGNC:3219 +GARD:0008486,Orphanet,2953,ORPHA:2953,2,CHST14,"[D4ST-1, HD4ST]",carbohydrate sulfotransferase 14,gene with protein product,15q15.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20533528, PMID:22581468]",608429,ENSG00000169105,,Q8NCH0,Q8NCH0,HGNC:24464 +GARD:0008486,Orphanet,2953,ORPHA:2953,2,DSE,"[DS-Epi1, DSEPI]",dermatan sulfate epimerase,gene with protein product,6q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23704329],605942,ENSG00000111817,,Q9UL01,Q9UL01,HGNC:21144 +GARD:0008488,Orphanet,319487,ORPHA:319487,3,MINPP1,[MIPP],multiple inositol-polyphosphate phosphatase 1,gene with protein product,10q23.2,Candidate gene tested in,Not yet assessed,[PMID:11297621],605391,ENSG00000107789,,Q9UNW1,Q9UNW1,HGNC:7102 +GARD:0008488,Orphanet,319487,ORPHA:319487,3,FOXE1,"[HFKH4, TTF-2, thyroid transcription factor 2]",forkhead box E1,gene with protein product,9q22.33,Disease-causing germline mutation(s) in,Assessed,[PMID:25381600],602617,ENSG00000178919,,O00358,,HGNC:3806 +GARD:0008488,Orphanet,319487,ORPHA:319487,3,HABP2,"[FSAP, HABP, HGFAL, PHBP, factor VII activating protein, plasma hyaluronan binding protein]",hyaluronan binding protein 2,gene with protein product,10q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26222560],603924,ENSG00000148702,,Q14520,,HGNC:4798 +GARD:0008491,Orphanet+OMIM,606190,OMIM:606190,1,MNRI,,"Meningioma, radiation-induced",unknown,1p11,The disease phenotype itself was mapped,Unknown,,606190,,,,,GeneID:117192 +GARD:0008497,Orphanet+OMIM,605472,OMIM:605472,2,PDZD7,"[FLJ23209, bA108L7.8]",PDZ domain containing 7,gene with protein product,10q24.31,The molecular basis of the disorder is known,Unknown,,612971,ENSG00000186862,,Q9H5P4,,HGNC:26257 +GARD:0008497,Orphanet+OMIM,605472,OMIM:605472,2,ADGRV1,"[DKFZp761P0710, FEB4, KIAA0686, VLGR1]",adhesion G protein-coupled receptor V1,gene with protein product,5q14.3,The molecular basis of the disorder is known,Unknown,,602851,ENSG00000164199,objectId:189,Q8WXG9,Q8WXG9,HGNC:17416 +GARD:0008501,Orphanet,171723,ORPHA:171723,2,KRT4,"[CK4, K4, cytokeratin 4, keratin, type II cytoskeletal 4]",keratin 4,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:10652003, PMID:12828738, PMID:23182699]",123940,ENSG00000170477,,P19013,P19013,HGNC:6441 +GARD:0008501,Orphanet,171723,ORPHA:171723,2,KRT13,"[CK13, K13, MGC161462, MGC3781, cytokeratin 13, keratin, type I cytoskeletal 13]",keratin 13,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:10561721, PMID:11379896, PMID:14600690, PMID:7493031]",148065,ENSG00000171401,,P13646,P13646,HGNC:6415 +GARD:0008505,Orphanet,75497,ORPHA:75497,1,FLNA,"[ABP-280, actin binding protein 280, alpha filamin]",filamin A,gene with protein product,Xq28,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27739212],300017,ENSG00000196924,,P21333,P21333,HGNC:3754 +GARD:0008507,Orphanet,230839,ORPHA:230839,1,TNXB,"[TNXBS, XB, XBS]",tenascin XB,gene with protein product,6p21.33-p21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:11642233],600985,ENSG00000168477,,P22105,P22105,HGNC:11976 +GARD:0008517,Orphanet,384,ORPHA:384,1,SMARCAD1,"[DKFZP762K2015, DKFZp762K2015, ETL1, KIAA1122]","SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1",gene with protein product,4q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29409814],612761,ENSG00000163104,,Q9H4L7,,HGNC:18398 +GARD:0008520,Orphanet,1568,ORPHA:1568,1,AP1S2,[SIGMA1B],adaptor related protein complex 1 subunit sigma 2,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23756445],300629,ENSG00000182287,,P56377,P56377,HGNC:560 +GARD:0008521,Orphanet,1145,ORPHA:1145,1,UBA1,"[CFAP124, POC20, POC20 centriolar protein homolog (Chlamydomonas), UBA1, ubiquitin-activating enzyme E1 homolog (yeast), UBE1X]",ubiquitin like modifier activating enzyme 1,gene with protein product,Xp11.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18179898],314370,ENSG00000130985,,P22314,P22314,HGNC:12469 +GARD:0008526,Orphanet,171700,ORPHA:171700,2,MUCL3,"[C6orf37, PBLT, bCX105N19.6]",mucin like 3,gene with protein product,6p21.33,Major susceptibility factor in,Not yet assessed,,613928,ENSG00000168631,,Q3MIW9,,HGNC:21666 +GARD:0008526,Orphanet,171700,ORPHA:171700,2,MUC5B,[MG1],"mucin 5B, oligomeric mucus/gel-forming",gene with protein product,11p15.5,Major susceptibility factor in,Not yet assessed,,600770,ENSG00000117983,,Q9HC84,Q9HC84,HGNC:7516 +GARD:0008527,Orphanet+OMIM,234810,OMIM:234810,1,EIF2AK4,"[GCN2, KIAA1338, eIF-2-alpha kinase]",eukaryotic translation initiation factor 2 alpha kinase 4,gene with protein product,15q15.1,The molecular basis of the disorder is known,Unknown,,609280,ENSG00000128829,objectId:2018,Q9P2K8,Q9P2K8,HGNC:19687 +GARD:0008528,Orphanet,244242,ORPHA:244242,4,CD46,"[MGC26544, TLX, TRA2.10]",CD46 molecule,gene with protein product,1q32.2,Candidate gene tested in,Not yet assessed,[PMID:17914026],120920,ENSG00000117335,,P15529,P15529,HGNC:6953 +GARD:0008528,Orphanet,244242,ORPHA:244242,4,HELLPAR,"[LINC-HELLP, Long intergenic non-protein coding RNA associated with HELLP syndrome, long intergenic non-protein coding RNA associated with HELLP syndrome]",HELLP associated long non-coding RNA,Non-coding RNA,12q23.2,Major susceptibility factor in,Assessed,[PMID:23093777],614985,ENSG00000281344,,,,HGNC:43984 +GARD:0008528,Orphanet,244242,ORPHA:244242,4,CFI,"[C3b-INA, C3b-inactivator, FI, KAF, Konglutinogen-activating factor]",complement factor I,gene with protein product,4q25,Candidate gene tested in,Not yet assessed,"[PMID:18658028, PMID:22594569]",217030,ENSG00000205403,,P05156,P05156,HGNC:5394 +GARD:0008528,Orphanet,244242,ORPHA:244242,4,CFH,"[ARMD4, ARMS1, FHL1, H factor 2 (complement), HUS, age-related maculopathy susceptibility 1, beta-1H]",complement factor H,gene with protein product,1q31.3,Candidate gene tested in,Not yet assessed,"[PMID:18658028, PMID:22594569]",134370,ENSG00000000971,,P08603,P08603,HGNC:4883 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,NR5A1,"[AD4BP, ELP, FTZ1, SF-1, SF1, hSF-1, steroidogenic factor 1]",nuclear receptor subfamily 5 group A member 1,gene with protein product,9q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20887963],184757,ENSG00000136931,632,Q13285,Q13285,HGNC:7983 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,TAF4B,"[TAFII105, TATA box binding protein (TBP)-associated factor 4B]",TATA-box binding protein associated factor 4b,gene with protein product,18q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24431330],601689,ENSG00000141384,,Q92750,Q92750,HGNC:11538 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,TDRD9,"[DKFZp434N0820, FLJ36164, NET54]",tudor domain containing 9,gene with protein product,14q32.33,Disease-causing germline mutation(s) in,Assessed,[PMID:28536242],617963,ENSG00000156414,,Q8NDG6,Q8NDG6,HGNC:20122 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,SYCE1,"[CT76, bA108K14.6, cancer/testis antigen 76]",synaptonemal complex central element protein 1,gene with protein product,10q26.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25899990],611486,ENSG00000171772,,Q8N0S2,Q8N0S2,HGNC:28852 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,MEIOB,[MGC35212],meiosis specific with OB-fold,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28206990],617670,ENSG00000162039,,Q8N635,,HGNC:28569 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,KLHL10,[FLJ32662],kelch like family member 10,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17047026],608778,ENSG00000161594,,Q6JEL2,,HGNC:18829 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,FANCM,[FAAP250],FA complementation group M,gene with protein product,14q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30075111],609644,ENSG00000187790,,Q8IYD8,Q8IYD8,HGNC:23168 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,ZMYND15,[DKFZp434N127],zinc finger MYND-type containing 15,gene with protein product,17p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24431330],614312,ENSG00000141497,,Q9H091,,HGNC:20997 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,SOHLH1,"[NOHLH, SPATA27, TEB2, bA100C15.3, bHLHe80, spermatogenesis associated 27]",spermatogenesis and oogenesis specific basic helix-loop-helix 1,gene with protein product,9q34.3,Major susceptibility factor in,Assessed,[PMID:20506135],610224,ENSG00000165643,,Q5JUK2,Q5JUK2,HGNC:27845 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,XRCC2,"[FANCU, RAD51-like]",X-ray repair cross complementing 2,gene with protein product,7q36.1,Disease-causing germline mutation(s) in,Assessed,[PMID:30042186],600375,ENSG00000196584,,O43543,O43543,HGNC:12829 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,SYCP3,,synaptonemal complex protein 3,gene with protein product,12q23.2,Candidate gene tested in,Not yet assessed,"[PMID:14643120, PMID:16213863]",604759,ENSG00000139351,,Q8IZU3,Q8IZU3,HGNC:18130 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,TEX11,"[MZIP4, Spo22, TGC1, TSGA3, ZIP4]",testis expressed 11,gene with protein product,Xp11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25970010],300311,ENSG00000120498,,Q8IYF3,Q8IYF3,HGNC:11733 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,C14ORF39,[SIX6OS1],chromosome 14 open reading frame 39,gene with protein product,14q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:33508233],617307,ENSG00000179008,,Q8N1H7,,HGNC:19849 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,TEX14,"[CT113, cancer/testis antigen 113]","testis expressed 14, intercellular bridge forming factor",gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,[PMID:29790874],605792,ENSG00000121101,2241,Q8IWB6,,HGNC:11737 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,NANOS1,"[NOS1, ZC2HC12A]",nanos C2HC-type zinc finger 1,gene with protein product,10q26.11,Disease-causing germline mutation(s) in,Assessed,[PMID:23315541],608226,ENSG00000188613,,Q8WY41,,HGNC:23044 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,PNLDC1,,PARN like ribonuclease domain containing exonuclease 1,gene with protein product,6q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:34347949],619529,ENSG00000146453,,Q8NA58,,HGNC:21185 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,CFTR,"[ABC35, ATP-binding cassette sub-family C, member 7, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1]",CF transmembrane conductance regulator,gene with protein product,7q31.2,Major susceptibility factor in,Assessed,[PMID:22709980],602421,ENSG00000001626,707,P13569,P13569,HGNC:1884 +GARD:0008530,Orphanet,399805,ORPHA:399805,18,TEX15,"[CT42, cancer/testis antigen 42]","testis expressed 15, meiosis and synapsis associated",gene with protein product,8p12,Disease-causing germline mutation(s) in,Assessed,[PMID:29048736],605795,ENSG00000133863,,Q9BXT5,Q9BXT5,HGNC:11738 +GARD:0008531,Orphanet+OMIM,248340,OMIM:248340,1,COLEC10,"[CL-10, CL-L1]",collectin subfamily member 10,gene with protein product,8q24.12,The molecular basis of the disorder is known,Unknown,,607620,ENSG00000184374,,Q9Y6Z7,Q9Y6Z7,HGNC:2220 +GARD:0008535,Orphanet,661,ORPHA:661,5,GDNF,"[ATF1, ATF2, HFB1-GDNF, astrocyte-derived trophic factor, glial cell line derived neurotrophic factor, glial derived neurotrophic factor]",glial cell derived neurotrophic factor,gene with protein product,5p13.2,Candidate gene tested in,Not yet assessed,,600837,ENSG00000168621,,P39905,P39905,HGNC:4232 +GARD:0008535,Orphanet,661,ORPHA:661,5,MYO1H,[FLJ37587],myosin IH,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,[PMID:28779001],614636,ENSG00000174527,,Q8N1T3,,HGNC:13879 +GARD:0008535,Orphanet,661,ORPHA:661,5,EDN3,[ET3],endothelin 3,gene with protein product,20q13.32,Candidate gene tested in,Not yet assessed,"[PMID:20301600, PMID:8696331]",131242,ENSG00000124205,,P14138,P14138,HGNC:3178 +GARD:0008535,Orphanet,661,ORPHA:661,5,BDNF,[neurotrophin],brain derived neurotrophic factor,gene with protein product,11p14.1,Candidate gene tested in,Not yet assessed,[PMID:11840487],113505,ENSG00000176697,,P23560,,HGNC:1033 +GARD:0008535,Orphanet,661,ORPHA:661,5,PHOX2B,"[NBPhox, Phox2b]",paired like homeobox 2B,gene with protein product,4p13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301600],603851,ENSG00000109132,,Q99453,,HGNC:9143 +GARD:0008539,Orphanet,210128,ORPHA:210128,1,UROC1,"[FLJ31300, HMFN0320, urocanase 1]",urocanate hydratase 1,gene with protein product,3q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19304569],613012,ENSG00000159650,,Q96N76,Q96N76,HGNC:26444 +GARD:0008547,Orphanet,358,ORPHA:358,2,SLC12A3,[NCCT],solute carrier family 12 member 3,gene with protein product,16q13,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22169961, PMID:22990302]",600968,ENSG00000070915,970,P55017,P55017,HGNC:10912 +GARD:0008547,Orphanet,358,ORPHA:358,2,CLCNKB,[hClC-Kb],chloride voltage-gated channel Kb,gene with protein product,1p36.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:18667063, PMID:19265611, PMID:20931281]",602023,ENSG00000184908,701,P51801,P51801,HGNC:2027 +GARD:0008548,Orphanet,98856,ORPHA:98856,1,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0008549,Orphanet,570,ORPHA:570,2,REV3L,"[POLZ, REV3, polymerase, DNA, zeta]","REV3 like, DNA directed polymerase zeta catalytic subunit",gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,[PMID:26068067],602776,ENSG00000009413,,O60673,O60673,HGNC:9968 +GARD:0008549,Orphanet,570,ORPHA:570,2,PLXND1,[KIAA0620],plexin D1,gene with protein product,3q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26068067],604282,ENSG00000004399,,Q9Y4D7,Q9Y4D7,HGNC:9107 +GARD:0008550,Orphanet,86920,ORPHA:86920,1,KRT14,"[epidermolysis bullosa simplex, Dowling-Meara, Koebner]",keratin 14,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:16960809],148066,ENSG00000186847,,P02533,P02533,HGNC:6416 +GARD:0008553,Orphanet,31709,ORPHA:31709,3,PRRT2,"[DKFZp547J199, DSPB3, EKD1, FICCA, FLJ25513, IFITMD1, Interferon induced transmembrane protein domain containing 1, PKC, dispanin subfamily B member 3, interferon induced transmembrane protein domain containing 1]",proline rich transmembrane protein 2,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22243967],614386,ENSG00000167371,,Q7Z6L0,,HGNC:30500 +GARD:0008553,Orphanet,31709,ORPHA:31709,3,PDE2A,,phosphodiesterase 2A,gene with protein product,11q13.4,Disease-causing germline mutation(s) in,Assessed,[PMID:32467598],602658,ENSG00000186642,1297,O00408,,HGNC:8777 +GARD:0008553,Orphanet,31709,ORPHA:31709,3,SCN8A,"[CIAT, CerIII, NaCh6, Nav1.6, PN4]",sodium voltage-gated channel alpha subunit 8,gene with protein product,12q13.13,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26677014],600702,ENSG00000196876,583,Q9UQD0,Q9UQD0,HGNC:10596 +GARD:0008555,Orphanet,93571,ORPHA:93571,2,CFHR1,"[CFHL, FHR1, H36-1, H36-2]",complement factor H related 1,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23728178],134371,ENSG00000244414,,Q03591,Q03591,HGNC:4888 +GARD:0008555,Orphanet,93571,ORPHA:93571,2,CFH,"[ARMD4, ARMS1, FHL1, H factor 2 (complement), HUS, age-related maculopathy susceptibility 1, beta-1H]",complement factor H,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301598, PMID:22388616]",134370,ENSG00000000971,,P08603,P08603,HGNC:4883 +GARD:0008557,Orphanet+OMIM,300062,OMIM:300062,1,MRX14,[XLID14],"Intellectual developmental disorder, X-linked 14",unknown,Xp11.3-q13.3,The disease phenotype itself was mapped,Unknown,,300062,,,,,GeneID:4378 +GARD:0008559,Orphanet+OMIM,194071,OMIM:194071,1,H19-ICR,"[BWS, ICR1, SRS1, WT2]",H19-IGF2-imprinting control region,biological-region,11p15.5,The molecular basis of the disorder is known,Unknown,,616186,,,,,GeneID:105259599 +GARD:0008562,Orphanet,808,ORPHA:808,10,CENPJ,"[BM032, CPAP, LAG-3-associated protein, LAP, LIP1, SASS4, SCKL4, Sas-4, Seckel syndrome 4, Spindle assembly abnormal 4, centrosomal P4.1-associated protein]",centromere protein J,gene with protein product,13q12.12-q12.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20522431],609279,ENSG00000151849,,Q9HC77,Q9HC77,HGNC:17272 +GARD:0008562,Orphanet,808,ORPHA:808,10,ATRIP,"[FLJ12343, MGC20625, MGC21482, MGC26740]",ATR interacting protein,gene with protein product,3p21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301772, PMID:23144622]",606605,ENSG00000164053,,Q8WXE1,Q8WXE1,HGNC:33499 +GARD:0008562,Orphanet,808,ORPHA:808,10,RBBP8,"[COM1, CTBP-interacting protein, CtIP, RIM]","RB binding protein 8, endonuclease",gene with protein product,18q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21998596],604124,ENSG00000101773,,Q99708,Q99708,HGNC:9891 +GARD:0008562,Orphanet,808,ORPHA:808,10,PCNT,"[KEN, KIAA0402, PCN, PCNTB, SCKL4, Seckel syndrome 4, kendrin]",pericentrin,gene with protein product,21q22.3,Candidate gene tested in,Not yet assessed,[PMID:19643772],605925,ENSG00000160299,,O95613,O95613,HGNC:16068 +GARD:0008562,Orphanet,808,ORPHA:808,10,NUP85,"[FLJ12549, NUP75]",nucleoporin 85,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:34170319],170285,ENSG00000125450,,Q9BW27,Q9BW27,HGNC:8734 +GARD:0008562,Orphanet,808,ORPHA:808,10,CENPE,"[KIF10, PPP1R61, protein phosphatase 1, regulatory subunit 61]",centromere protein E,gene with protein product,4q24,Disease-causing germline mutation(s) in,Assessed,[PMID:24748105],117143,ENSG00000138778,,Q02224,Q02224,HGNC:1856 +GARD:0008562,Orphanet,808,ORPHA:808,10,TRAIP,"[RNF206, TRIP, ring finger protein 206]",TRAF interacting protein,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26595769],605958,ENSG00000183763,,Q9BWF2,Q9BWF2,HGNC:30764 +GARD:0008562,Orphanet,808,ORPHA:808,10,PLK4,[Sak],polo like kinase 4,gene with protein product,4q28.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:25320347, PMID:25344692]",605031,ENSG00000142731,2171,O00444,O00444,HGNC:11397 +GARD:0008562,Orphanet,808,ORPHA:808,10,ATR,"[FRP1, MEC1, MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae), SCKL, SCKL1]",ATR serine/threonine kinase,gene with protein product,3q23,Disease-causing germline mutation(s) in,Assessed,[PMID:12640452],601215,ENSG00000175054,1935,Q13535,Q13535,HGNC:882 +GARD:0008562,Orphanet,808,ORPHA:808,10,CEP152,"[KIAA0912, MCPH9, SCKL5, asterless]",centrosomal protein 152,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21131973],613529,ENSG00000103995,,O94986,O94986,HGNC:29298 +GARD:0008573,Orphanet,219,ORPHA:219,1,SGCD,"[CMD1L, DAGD, LGMD2F]",sarcoglycan delta,gene with protein product,5q33.2-q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],601411,ENSG00000170624,,Q92629,,HGNC:10807 +GARD:0008574,Orphanet,268,ORPHA:268,1,DYSF,"[FER1L1, fer-1-like family member 1]",dysferlin,gene with protein product,2p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],603009,ENSG00000135636,,O75923,O75923,HGNC:3097 +GARD:0008578,Orphanet+OMIM,602404,OMIM:602404,1,PARK3,,Parkinson disease 3,unknown,2p13,The disease phenotype itself was mapped,Unknown,,602404,,,,,GeneID:5072 +GARD:0008585,Orphanet,1517,ORPHA:1517,2,KCNJ8,[Kir6.1],potassium inwardly rectifying channel subfamily J member 8,gene with protein product,12p12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:24176758, PMID:24700710]",600935,ENSG00000121361,441,Q15842,Q15842,HGNC:6269 +GARD:0008585,Orphanet,1517,ORPHA:1517,2,ABCC9,"[CMD1O, SUR2, sulfonylurea receptor 2]",ATP binding cassette subfamily C member 9,gene with protein product,12p12.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:22608503, PMID:22610116]",601439,ENSG00000069431,2746,O60706,O60706,HGNC:60 +GARD:0008588,Orphanet+OMIM,144010,OMIM:144010,1,APOB,,apolipoprotein B,gene with protein product,2p24.1,The molecular basis of the disorder is known,Unknown,,107730,ENSG00000084674,,P04114,P04114,HGNC:603 +GARD:0008592,Orphanet,98920,ORPHA:98920,1,IGHMBP2,"[CATF1, CMT2S, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7, cardiac transcription factor 1, zinc finger, AN1-type domain 7]",immunoglobulin mu DNA binding protein 2,gene with protein product,11q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11528396],600502,ENSG00000132740,,P38935,,HGNC:5542 +GARD:0008595,Orphanet,96,ORPHA:96,1,TTPA,,alpha tocopherol transfer protein,gene with protein product,8q12.3,Disease-causing germline mutation(s) in,Assessed,,600415,ENSG00000137561,,P49638,P49638,HGNC:12404 +GARD:0008598,Orphanet,44890,ORPHA:44890,5,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing somatic mutation(s) in,Assessed,[PMID:23730622],164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0008598,Orphanet,44890,ORPHA:44890,5,KIT,"[C-Kit, CD117, SCFR, mast/stem cell growth factor receptor Kit]","KIT proto-oncogene, receptor tyrosine kinase",gene with protein product,4q12,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:11073817],164920,ENSG00000157404,1805,P10721,P10721,HGNC:6342 +GARD:0008598,Orphanet,44890,ORPHA:44890,5,SDHC,"[CYB560, cybL, large subunit of cytochrome b, succinate dehydrgenase cytochrome b, succinate dehydrogenase cytochrome b560 subunit]",succinate dehydrogenase complex subunit C,gene with protein product,1q23.3,Candidate gene tested in,Not yet assessed,[PMID:21173220],602413,ENSG00000143252,,Q99643,Q99643,HGNC:10682 +GARD:0008598,Orphanet,44890,ORPHA:44890,5,SDHB,"[iron-sulfur subunit of complex II, succinate dehydrogenase [ubiquinone] iron-sulfur subunit]",succinate dehydrogenase complex iron sulfur subunit B,gene with protein product,1p36.13,Candidate gene tested in,Not yet assessed,[PMID:21173220],185470,ENSG00000117118,,P21912,P21912,HGNC:10681 +GARD:0008598,Orphanet,44890,ORPHA:44890,5,PDGFRA,"[CD140a, GAS9, PDGFR2]",platelet derived growth factor receptor alpha,gene with protein product,4q12,Disease-causing somatic mutation(s) in,Assessed,[PMID:23730622],173490,ENSG00000134853,1803,P16234,P16234,HGNC:8803 +GARD:0008598,Orphanet,44890,ORPHA:44890,5,SDHA,"[FP, SDHF, flavoprotein subunit of complex II, succinate dehydrogenase [ubiquinone] flavoprotein subunit]",succinate dehydrogenase complex flavoprotein subunit A,gene with protein product,5p15.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21505157, PMID:21997697, PMID:23282968, PMID:23730622]",600857,ENSG00000073578,,P31040,P31040,HGNC:10680 +GARD:0008600,Orphanet,140969,ORPHA:140969,2,IFT140,"[KIAA0590, gs114]",intraflagellar transport 140,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22503633],614620,ENSG00000187535,,Q96RY7,Q96RY7,HGNC:29077 +GARD:0008600,Orphanet,140969,ORPHA:140969,2,IFT172,"[BBS20, NPHP17, SLB, osm-1, wim, wimple homolog]",intraflagellar transport 172,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24140113],607386,ENSG00000138002,,Q9UG01,Q9UG01,HGNC:30391 +GARD:0008606,Orphanet,99742,ORPHA:99742,1,SLC25A19,"[DNC, MUP1, TPC]",solute carrier family 25 member 19,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301539],606521,ENSG00000125454,1073,Q9HC21,Q9HC21,HGNC:14409 +GARD:0008609,Orphanet,2032,ORPHA:2032,14,TERT,"[EST2, TCS1, TP2, TRT, hEST2]",telomerase reverse transcriptase,gene with protein product,5p15.33,Major susceptibility factor in,Assessed,[PMID:17460043],187270,ENSG00000164362,,O14746,O14746,HGNC:11730 +GARD:0008609,Orphanet,2032,ORPHA:2032,14,SFTPC,"[BRICD6, BRICHOS domain containing 6, PSP-C, SMDP2, SP-C]",surfactant protein C,gene with protein product,8p21.3,Major susceptibility factor in,Assessed,[PMID:15516475],178620,ENSG00000168484,,P11686,P11686,HGNC:10802 +GARD:0008609,Orphanet,2032,ORPHA:2032,14,ABCA3,"[ABC-C, EST111653, LBM180]",ATP binding cassette subfamily A member 3,gene with protein product,16p13.3,Candidate gene tested in,Not yet assessed,[PMID:25553246],601615,ENSG00000167972,758,Q99758,Q99758,HGNC:33 +GARD:0008609,Orphanet,2032,ORPHA:2032,14,DSP,"[DPI, DPII, KPPS2, PPKS2]",desmoplakin,gene with protein product,6p24.3,Major susceptibility factor in,Assessed,[PMID:23583980],125647,ENSG00000096696,,P15924,P15924,HGNC:3052 +GARD:0008609,Orphanet,2032,ORPHA:2032,14,DPP9,,dipeptidyl peptidase 9,gene with protein product,19p13.3,Major susceptibility factor in,Assessed,[PMID:23583980],608258,ENSG00000142002,2357,Q86TI2,,HGNC:18648 +GARD:0008609,Orphanet,2032,ORPHA:2032,14,ATP11A,"[ATPIH, ATPIS, KIAA1021, Phospholipid-translocating ATPase, Potential phospholipid-transporting ATPase IH, phospholipid-translocating ATPase, potential phospholipid-transporting ATPase IH]",ATPase phospholipid transporting 11A,gene with protein product,13q34,Major susceptibility factor in,Assessed,[PMID:23583980],605868,ENSG00000068650,865,P98196,P98196,HGNC:13552 +GARD:0008609,Orphanet,2032,ORPHA:2032,14,PARN,"[DAN, deadenylation nuclease]",poly(A)-specific ribonuclease,gene with protein product,16p13.12,Major susceptibility factor in,Assessed,[PMID:25848748],604212,ENSG00000140694,,O95453,O95453,HGNC:8609 +GARD:0008609,Orphanet,2032,ORPHA:2032,14,RTEL1,"[DKFZP434C013, KIAA1088, NHL, RTEL, bK3184A7.3]",regulator of telomere elongation helicase 1,gene with protein product,20q13.33,Major susceptibility factor in,Assessed,[PMID:25848748],608833,ENSG00000258366,,Q9NZ71,Q9NZ71,HGNC:15888 +GARD:0008609,Orphanet,2032,ORPHA:2032,14,STN1,"[FLJ22559, bA541N10.2]",STN1 subunit of CST complex,gene with protein product,10q24.33,Major susceptibility factor in,Assessed,[PMID:23583980],613128,ENSG00000107960,,Q9H668,Q9H668,HGNC:26200 +GARD:0008609,Orphanet,2032,ORPHA:2032,14,FAM13A,"[ARHGAP48, KIAA0914]",family with sequence similarity 13 member A,gene with protein product,4q22.1,Major susceptibility factor in,Assessed,[PMID:23583980],613299,ENSG00000138640,,O94988,O94988,HGNC:19367 +GARD:0008609,Orphanet,2032,ORPHA:2032,14,SFTPA1,"[COLEC4, SP-A, SP-A1, surfactant, pulmonary-associated protein A1A]",surfactant protein A1,gene with protein product,10q22.3,Major susceptibility factor in,Assessed,[PMID:13680361],178630,ENSG00000122852,,Q8IWL2,Q8IWL2,HGNC:10798 +GARD:0008609,Orphanet,2032,ORPHA:2032,14,SFTPA2,"[COLEC5, SP-A2, surfactant, pulmonary-associated protein A2A]",surfactant protein A2,gene with protein product,10q22.3,Major susceptibility factor in,Assessed,[PMID:19100526],178642,ENSG00000185303,,Q8IWL1,Q8IWL1,HGNC:10799 +GARD:0008609,Orphanet,2032,ORPHA:2032,14,TERC,"[SCARNA19, TR, TRC3, hTR, small Cajal body-specific RNA 19]",telomerase RNA component,Non-coding RNA,3q26.2,Major susceptibility factor in,Assessed,"[PMID:17392301, PMID:18753630]",602322,ENSG00000270141,,,,HGNC:11727 +GARD:0008609,Orphanet,2032,ORPHA:2032,14,MUC5B,[MG1],"mucin 5B, oligomeric mucus/gel-forming",gene with protein product,11p15.5,Major susceptibility factor in,Assessed,"[PMID:21506741, PMID:21506748]",600770,ENSG00000117983,,Q9HC84,Q9HC84,HGNC:7516 +GARD:0008614,Orphanet,232,ORPHA:232,1,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301551, PMID:24361300]",141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0008618,Orphanet,824,ORPHA:824,4,TET2,"[FLJ20032, ten-eleven translocation 2]",tet methylcytosine dioxygenase 2,gene with protein product,4q24,Disease-causing somatic mutation(s) in,Assessed,"[PMID:19262601, PMID:19557078]",612839,ENSG00000168769,,Q6N021,Q6N021,HGNC:25941 +GARD:0008618,Orphanet,824,ORPHA:824,4,CALR,"[CRT, FLJ26680, RO, SSA, Sicca syndrome antigen A (autoantigen Ro; calreticulin), autoantigen Ro, cC1qR]",calreticulin,gene with protein product,19p13.13,Disease-causing somatic mutation(s) in,Assessed,"[PMID:24325256, PMID:24325359]",109091,ENSG00000179218,,P27797,P27797,HGNC:1455 +GARD:0008618,Orphanet,824,ORPHA:824,4,MPL,"[CD110, THPOR, TPOR]","MPL proto-oncogene, thrombopoietin receptor",gene with protein product,1p34.2,Disease-causing somatic mutation(s) in,Assessed,"[PMID:16834459, PMID:16868251]",159530,ENSG00000117400,1722,P40238,P40238,HGNC:7217 +GARD:0008618,Orphanet,824,ORPHA:824,4,JAK2,[JTK10],Janus kinase 2,gene with protein product,9p24.1,Disease-causing somatic mutation(s) in,Assessed,,147796,ENSG00000096968,2048,O60674,O60674,HGNC:6192 +GARD:0008621,Orphanet,39044,ORPHA:39044,5,BAP1,"[KIAA0272, UCHL2, hucep-6, ubiquitin carboxy-terminal hydrolase]",BRCA1 associated protein 1,gene with protein product,3p21.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:21051595],603089,ENSG00000163930,2332,Q92560,Q92560,HGNC:950 +GARD:0008621,Orphanet,39044,ORPHA:39044,5,GNA11,"[FBH, FBH2, FHH2]",G protein subunit alpha 11,gene with protein product,19p13.3,Disease-causing somatic mutation(s) in,Assessed,"[PMID:21083380, PMID:23714557]",139313,ENSG00000088256,,P29992,P29992,HGNC:4379 +GARD:0008621,Orphanet,39044,ORPHA:39044,5,BAP1,"[KIAA0272, UCHL2, hucep-6, ubiquitin carboxy-terminal hydrolase]",BRCA1 associated protein 1,gene with protein product,3p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21941004],603089,ENSG00000163930,2332,Q92560,Q92560,HGNC:950 +GARD:0008621,Orphanet,39044,ORPHA:39044,5,CYSLTR2,"[CYSLT2R, CysLT(2)]",cysteinyl leukotriene receptor 2,gene with protein product,13q14.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:27089179],605666,ENSG00000152207,270,Q9NS75,Q9NS75,HGNC:18274 +GARD:0008621,Orphanet,39044,ORPHA:39044,5,SF3B1,"[Hsh155, PRPF10, Prp10, SAP155, SF3b155]",splicing factor 3b subunit 1,gene with protein product,2q33.1,Biomarker tested in,Assessed,"[PMID:23714557, PMID:23861464]",605590,ENSG00000115524,,O75533,O75533,HGNC:10768 +GARD:0008621,Orphanet,39044,ORPHA:39044,5,GNAQ,"[G-ALPHA-q, GAQ]",G protein subunit alpha q,gene with protein product,9q21.2,Disease-causing somatic mutation(s) in,Assessed,"[PMID:21083380, PMID:23714557]",600998,ENSG00000156052,2914,P50148,P50148,HGNC:4390 +GARD:0008625,Orphanet,33355,ORPHA:33355,1,AK2,,adenylate kinase 2,gene with protein product,1p35.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19043416],103020,ENSG00000004455,,P54819,P54819,HGNC:362 +GARD:0008644,Orphanet,210122,ORPHA:210122,1,FOXF1,[FREAC1],forkhead box F1,gene with protein product,16q24.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:19500772, PMID:23505205]",601089,ENSG00000103241,,Q12946,,HGNC:3809 +GARD:0008683,Orphanet,79235,ORPHA:79235,1,UGT1A1,[UGT1A],UDP glucuronosyltransferase family 1 member A1,gene with protein product,2q37.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:16456422, PMID:17098698]",191740,ENSG00000241635,2990,P22309,P22309,HGNC:12530 +GARD:0008686,Orphanet,3261,ORPHA:3261,5,FAS,"[APO-1, CD95, TNF receptor superfamily member 6]",Fas cell surface death receptor,gene with protein product,10q23.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301287, PMID:21885602, PMID:22983577]",134637,ENSG00000026103,1875,P25445,P25445,HGNC:11920 +GARD:0008686,Orphanet,3261,ORPHA:3261,5,FAS,"[APO-1, CD95, TNF receptor superfamily member 6]",Fas cell surface death receptor,gene with protein product,10q23.31,Disease-causing somatic mutation(s) in,Assessed,"[PMID:20301287, PMID:21885602, PMID:22983577]",134637,ENSG00000026103,1875,P25445,P25445,HGNC:11920 +GARD:0008686,Orphanet,3261,ORPHA:3261,5,FASLG,"[CD178, FasL]",Fas ligand,gene with protein product,1q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:16627752, PMID:17605793, PMID:20301287]",134638,ENSG00000117560,,P48023,P48023,HGNC:11936 +GARD:0008686,Orphanet,3261,ORPHA:3261,5,RASGRP1,"[CalDAG-GEFII, RASGRP, calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II]",RAS guanyl releasing protein 1,gene with protein product,15q14,Disease-causing germline mutation(s) in,Assessed,[PMID:29155103],603962,ENSG00000172575,3016,O95267,O95267,HGNC:9878 +GARD:0008686,Orphanet,3261,ORPHA:3261,5,CASP10,"[FAS-associated death domain protein interleukin-1B-converting enzyme 2, FLICE-2, MCH4]",caspase 10,gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:10412980, PMID:17999750, PMID:20301287]",601762,ENSG00000003400,1626,Q92851,Q92851,HGNC:1500 +GARD:0008686,Orphanet,3261,ORPHA:3261,5,PRKCD,,protein kinase C delta,gene with protein product,3p21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23430113],176977,ENSG00000163932,1485,Q05655,Q05655,HGNC:9399 +GARD:0008694,Orphanet,216796,ORPHA:216796,5,SEC24D,[KIAA0755],"SEC24 homolog D, COPII coat complex component",gene with protein product,4q26,Disease-causing germline mutation(s) in,Assessed,[PMID:25683121],607186,ENSG00000150961,,O94855,O94855,HGNC:10706 +GARD:0008694,Orphanet,216796,ORPHA:216796,5,COL1A2,"[alpha 2(I)-collagen, alpha-2 collagen type I, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain, type I procollagen]",collagen type I alpha 2 chain,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301472, PMID:21438135]",120160,ENSG00000164692,,P08123,P08123,HGNC:2198 +GARD:0008694,Orphanet,216796,ORPHA:216796,5,COL1A1,[OI4],collagen type I alpha 1 chain,gene with protein product,17q21.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301472, PMID:21438135]",120150,ENSG00000108821,,P02452,P02452,HGNC:2197 +GARD:0008694,Orphanet,216796,ORPHA:216796,5,P4HB,"[DSI, GIT, P4Hbeta, PDI, PDIA1, PO4HB, PROHB, collagen prolyl 4-hydroxylase beta, protein disulfide isomerase family A, member 1, protein disulfide isomerase-associated 1]",prolyl 4-hydroxylase subunit beta,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:30913006, PMID:30948499]",176790,ENSG00000185624,,P07237,P07237,HGNC:8548 +GARD:0008694,Orphanet,216796,ORPHA:216796,5,MBTPS2,"[S2P, site-2 protease]","membrane bound transcription factor peptidase, site 2",gene with protein product,Xp22.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27380894],300294,ENSG00000012174,,O43462,O43462,HGNC:15455 +GARD:0008695,Orphanet,216812,ORPHA:216812,12,COL1A2,"[alpha 2(I)-collagen, alpha-2 collagen type I, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain, type I procollagen]",collagen type I alpha 2 chain,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301472, PMID:21438135]",120160,ENSG00000164692,,P08123,P08123,HGNC:2198 +GARD:0008695,Orphanet,216812,ORPHA:216812,12,COL1A1,[OI4],collagen type I alpha 1 chain,gene with protein product,17q21.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301472, PMID:21438135]",120150,ENSG00000108821,,P02452,P02452,HGNC:2197 +GARD:0008695,Orphanet,216812,ORPHA:216812,12,CRTAP,"[CASP, LEPREL3, P3H5, leprecan-like 3, prolyl 3-hydroxylase family member 5 (non-enzymatic)]",cartilage associated protein,gene with protein product,3p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21438135],605497,ENSG00000170275,,O75718,O75718,HGNC:2379 +GARD:0008695,Orphanet,216812,ORPHA:216812,12,FKBP10,"[FKBP6, FKBP65, FLJ20683, FLJ22041, FLJ23833, hFKBP65]",FKBP prolyl isomerase 10,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21438135, PMID:25046257]",607063,ENSG00000141756,,Q96AY3,,HGNC:18169 +GARD:0008695,Orphanet,216812,ORPHA:216812,12,SERPINF1,"[EPC-1, PIG35, alpha-2 antiplasmin, pigment epithelium-derived factor, proliferation-inducing protein 35]",serpin family F member 1,gene with protein product,17p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21353196, PMID:25046257]",172860,ENSG00000132386,,P36955,,HGNC:8824 +GARD:0008695,Orphanet,216812,ORPHA:216812,12,TENT5A,[FLJ20037],terminal nucleotidyltransferase 5A,gene with protein product,6q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29358272],611357,ENSG00000112773,,Q96IP4,Q96IP4,HGNC:18345 +GARD:0008695,Orphanet,216812,ORPHA:216812,12,BMP1,"[BMP-1, tolloid-like]",bone morphogenetic protein 1,gene with protein product,8p21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22052668],112264,ENSG00000168487,2333,P13497,P13497,HGNC:1067 +GARD:0008695,Orphanet,216812,ORPHA:216812,12,P3H1,"[GROS1, LEPRECAN, MGC117314, growth suppressor 1, procollagen-proline 3-dioxygenase]",prolyl 3-hydroxylase 1,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21438135],610339,ENSG00000117385,,Q32P28,Q32P28,HGNC:19316 +GARD:0008695,Orphanet,216812,ORPHA:216812,12,WNT1,,Wnt family member 1,gene with protein product,12q13.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23499310, PMID:25046257]",164820,ENSG00000125084,,P04628,P04628,HGNC:12774 +GARD:0008695,Orphanet,216812,ORPHA:216812,12,CREB3L1,"[BBF-2 homolog (drosophila), OASIS, old astrocyte specifically induced substance]",cAMP responsive element binding protein 3 like 1,gene with protein product,11p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24079343],616215,ENSG00000157613,,Q96BA8,Q96BA8,HGNC:18856 +GARD:0008695,Orphanet,216812,ORPHA:216812,12,SERPINH1,"[HSP47, collagen binding protein 1, colligen]",serpin family H member 1,gene with protein product,11q13.5,Disease-causing germline mutation(s) in,Assessed,[PMID:21438135],600943,ENSG00000149257,,P50454,P50454,HGNC:1546 +GARD:0008695,Orphanet,216812,ORPHA:216812,12,PPIB,"[B, CYP-S1, CYPB, OI9, PPIase, S-cyclophilin, SCYLP, cyclophilin B, peptidyl-prolyl cis-trans isomerase B, rotamase B]",peptidylprolyl isomerase B,gene with protein product,15q22.31,Disease-causing germline mutation(s) in,Assessed,[PMID:21438135],123841,ENSG00000166794,,P23284,P23284,HGNC:9255 +GARD:0008696,Orphanet,216820,ORPHA:216820,10,COL1A2,"[alpha 2(I)-collagen, alpha-2 collagen type I, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain, type I procollagen]",collagen type I alpha 2 chain,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301472, PMID:21438135]",120160,ENSG00000164692,,P08123,P08123,HGNC:2198 +GARD:0008696,Orphanet,216820,ORPHA:216820,10,COL1A1,[OI4],collagen type I alpha 1 chain,gene with protein product,17q21.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301472, PMID:21438135]",120150,ENSG00000108821,,P02452,P02452,HGNC:2197 +GARD:0008696,Orphanet,216820,ORPHA:216820,10,CRTAP,"[CASP, LEPREL3, P3H5, leprecan-like 3, prolyl 3-hydroxylase family member 5 (non-enzymatic)]",cartilage associated protein,gene with protein product,3p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21438135],605497,ENSG00000170275,,O75718,O75718,HGNC:2379 +GARD:0008696,Orphanet,216820,ORPHA:216820,10,FKBP10,"[FKBP6, FKBP65, FLJ20683, FLJ22041, FLJ23833, hFKBP65]",FKBP prolyl isomerase 10,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:21438135, PMID:25046257]",607063,ENSG00000141756,,Q96AY3,,HGNC:18169 +GARD:0008696,Orphanet,216820,ORPHA:216820,10,SP7,"[OSX, osterix]",Sp7 transcription factor,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:21438135],606633,ENSG00000170374,,Q8TDD2,Q8TDD2,HGNC:17321 +GARD:0008696,Orphanet,216820,ORPHA:216820,10,SERPINF1,"[EPC-1, PIG35, alpha-2 antiplasmin, pigment epithelium-derived factor, proliferation-inducing protein 35]",serpin family F member 1,gene with protein product,17p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25046257],172860,ENSG00000132386,,P36955,,HGNC:8824 +GARD:0008696,Orphanet,216820,ORPHA:216820,10,TMEM38B,"[D4Ertd89e, FLJ10493, TRIC-B, bA219P18.1]",transmembrane protein 38B,gene with protein product,9q31.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:23313006, PMID:25046257]",611236,ENSG00000095209,,Q9NVV0,,HGNC:25535 +GARD:0008696,Orphanet,216820,ORPHA:216820,10,SPARC,"[BM-40, ONT, cysteine-rich protein, secreted protein acidic and rich in cysteine]",secreted protein acidic and cysteine rich,gene with protein product,5q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26027498],182120,ENSG00000113140,,P09486,P09486,HGNC:11219 +GARD:0008696,Orphanet,216820,ORPHA:216820,10,PPIB,"[B, CYP-S1, CYPB, OI9, PPIase, S-cyclophilin, SCYLP, cyclophilin B, peptidyl-prolyl cis-trans isomerase B, rotamase B]",peptidylprolyl isomerase B,gene with protein product,15q22.31,Disease-causing germline mutation(s) in,Assessed,[PMID:21282188],123841,ENSG00000166794,,P23284,P23284,HGNC:9255 +GARD:0008696,Orphanet,216820,ORPHA:216820,10,WNT1,,Wnt family member 1,gene with protein product,12q13.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23434763, PMID:25046257]",164820,ENSG00000125084,,P04628,P04628,HGNC:12774 +GARD:0008698,Orphanet,53697,ORPHA:53697,1,ANO5,[GDD1],anoctamin 5,gene with protein product,11p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23047743],608662,ENSG00000171714,,Q75V66,Q75V66,HGNC:27337 +GARD:0008699,Orphanet,216828,ORPHA:216828,1,IFITM5,"[BRIL, DSPA1, Fragilis4, Hrmp1, dispanin subfamily A member 1, fragilis4]",interferon induced transmembrane protein 5,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,"[PMID:22863190, PMID:22863195, PMID:25046257]",614757,ENSG00000206013,,A6NNB3,,HGNC:16644 +GARD:0008700,Orphanet+OMIM,613982,OMIM:613982,1,SERPINF1,"[EPC-1, PIG35, alpha-2 antiplasmin, proliferation-inducing protein 35]",serpin family F member 1,gene with protein product,17p13.3,The molecular basis of the disorder is known,Unknown,,172860,ENSG00000132386,,P36955,,HGNC:8824 +GARD:0008701,Orphanet+OMIM,610682,OMIM:610682,1,CRTAP,"[CASP, LEPREL3, P3H5, leprecan-like 3, prolyl 3-hydroxylase family member 5 (non-enzymatic)]",cartilage associated protein,gene with protein product,3p22.3,The molecular basis of the disorder is known,Unknown,,605497,ENSG00000170275,,O75718,O75718,HGNC:2379 +GARD:0008707,Orphanet,93322,ORPHA:93322,1,GLI3,"[ACLS, DNA-binding protein, PAP-A, PAPA, PAPA1, PAPB, PPDIV, oncogene GLI3, zinc finger protein GLI3]",GLI family zinc finger 3,gene with protein product,7p14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26791356],165240,ENSG00000106571,,P10071,P10071,HGNC:4319 +GARD:0008711,Orphanet,268129,ORPHA:268129,1,MYOT,,myotilin,gene with protein product,5q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:16380616],604103,ENSG00000120729,,Q9UBF9,Q9UBF9,HGNC:12399 +GARD:0008713,Orphanet,93296,ORPHA:93296,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:10797431],120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0008717,Orphanet,166272,ORPHA:166272,1,TRIP11,"[CEV14, GMAP-210, GMAP210, Trip230, golgi-microtubule-associated-protein of 210 kDa]",thyroid hormone receptor interactor 11,gene with protein product,14q32.12,Disease-causing germline mutation(s) in,Assessed,[PMID:30728324],604505,ENSG00000100815,,Q15643,Q15643,HGNC:12305 +GARD:0008721,Orphanet,98809,ORPHA:98809,2,PRRT2,"[DKFZp547J199, DSPB3, EKD1, FICCA, FLJ25513, IFITMD1, Interferon induced transmembrane protein domain containing 1, PKC, dispanin subfamily B member 3, interferon induced transmembrane protein domain containing 1]",proline rich transmembrane protein 2,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23398397],614386,ENSG00000167371,,Q7Z6L0,,HGNC:30500 +GARD:0008721,Orphanet,98809,ORPHA:98809,2,KCNA1,"[HUK1, Kv1.1, MBK1, RBK1]",potassium voltage-gated channel subfamily A member 1,gene with protein product,12p13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:29294000],176260,ENSG00000111262,538,Q09470,Q09470,HGNC:6218 +GARD:0008722,Orphanet,98810,ORPHA:98810,2,PRRT2,"[DKFZp547J199, DSPB3, EKD1, FICCA, FLJ25513, IFITMD1, Interferon induced transmembrane protein domain containing 1, PKC, dispanin subfamily B member 3, interferon induced transmembrane protein domain containing 1]",proline rich transmembrane protein 2,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22209761, PMID:22902309, PMID:23398397]",614386,ENSG00000167371,,Q7Z6L0,,HGNC:30500 +GARD:0008722,Orphanet,98810,ORPHA:98810,2,PNKD,"[BRP17, DKFZp564N1362, DYT8, FKSG19, FPD1, KIAA1184, KIPP1184, MGC31943, MR-1, MR-1S, PDC, PKND1, TAHCCP2, myofibrillogenesis regulator 1]",PNKD metallo-beta-lactamase domain containing,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,,609023,ENSG00000127838,,Q8N490,Q8N490,HGNC:9153 +GARD:0008723,Orphanet,86841,ORPHA:86841,1,RPS14,"[40S ribosomal protein S14, EMTB, S14, emetine resistance]",ribosomal protein S14,gene with protein product,5q33.1,Role in the phenotype of,Assessed,[PMID:22571696],130620,ENSG00000164587,,P62263,P62263,HGNC:10387 +GARD:0008735,Orphanet,247667,ORPHA:247667,1,ALPL,"[TNALP, TNAP, TNSALP, tissue non-specific alkaline phosphatase]","alkaline phosphatase, biomineralization associated",gene with protein product,1p36.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:10737975, PMID:17916236, PMID:20301329]",171760,ENSG00000162551,,P05186,P05186,HGNC:438 +GARD:0008743,Orphanet+OMIM,603194,OMIM:603194,1,TMEM216,"[HSPC244, JBTS2, MGC13379]",transmembrane protein 216,gene with protein product,11q12.2,The molecular basis of the disorder is known,Unknown,,613277,ENSG00000187049,,Q9P0N5,Q9P0N5,HGNC:25018 +GARD:0008744,Orphanet+OMIM,607361,OMIM:607361,1,TMEM67,"[JBTS6, MGC26979, Meckelin, NPHP11]",transmembrane protein 67,gene with protein product,8q22.1,The molecular basis of the disorder is known,Unknown,,609884,ENSG00000164953,,Q5HYA8,Q5HYA8,HGNC:28396 +GARD:0008754,Orphanet,1426,ORPHA:1426,1,LBR,"[DHCR14B, TDRD18, tudor domain containing 18]",lamin B receptor,gene with protein product,1q42.12,Disease-causing germline mutation(s) in,Assessed,[PMID:21327084],600024,ENSG00000143815,,Q14739,Q14739,HGNC:6518 +GARD:0008756,Orphanet,1187,ORPHA:1187,1,PRPS1,"[CMTX5, DFNX1, PRS I, ribose-phosphate diphosphokinase 1]",phosphoribosyl pyrophosphate synthetase 1,gene with protein product,Xq22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301738],311850,ENSG00000147224,,P60891,P60891,HGNC:9462 +GARD:0009118,Orphanet,3337,ORPHA:3337,4,GATM,"[AGAT, L-arginine:glycine amidinotransferase]",glycine amidinotransferase,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29654216],602360,ENSG00000171766,1246,P50440,P50440,HGNC:4175 +GARD:0009118,Orphanet,3337,ORPHA:3337,4,SLC34A1,"[NAPI-3, NPTIIa, Na+-phosphate cotransporter type II, SLC11, sodium/phosphate co-transporter, solute carrier family 17 (sodium phosphate), member 2]",solute carrier family 34 member 1,gene with protein product,5q35.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20335586],182309,ENSG00000131183,1135,Q06495,Q06495,HGNC:11019 +GARD:0009118,Orphanet,3337,ORPHA:3337,4,NDUFAF6,[MGC40214],NADH:ubiquinone oxidoreductase complex assembly factor 6,gene with protein product,8q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27466185],612392,ENSG00000156170,,Q330K2,Q330K2,HGNC:28625 +GARD:0009118,Orphanet,3337,ORPHA:3337,4,EHHADH,,enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase,gene with protein product,3q27.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24401050],607037,ENSG00000113790,,Q08426,Q08426,HGNC:3247 +GARD:0009124,Orphanet,861,ORPHA:861,4,POLR1D,"[AC19, MGC9850, RPA16, RPA9, RPAC2, RPO1-3]",RNA polymerase I and III subunit D,gene with protein product,13q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301704],613715,ENSG00000186184,,P0DPB5; P0DPB6,Q9Y2S0,HGNC:20422 +GARD:0009124,Orphanet,861,ORPHA:861,4,POLR1C,"[AC40, RPA39, RPA40, RPA5, RPAC1, RPC40]",RNA polymerase I and III subunit C,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301704],610060,ENSG00000171453,,O15160,O15160,HGNC:20194 +GARD:0009124,Orphanet,861,ORPHA:861,4,TCOF1,"[TCS, treacle]",treacle ribosome biogenesis factor 1,gene with protein product,5q32-q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301704],606847,ENSG00000070814,,Q13428,Q13428,HGNC:11654 +GARD:0009124,Orphanet,861,ORPHA:861,4,POLR1B,"[FLJ10816, FLJ21921, RPA135, RPA2, Rpo1-2]",RNA polymerase I subunit B,gene with protein product,2q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25790162],602000,ENSG00000125630,,Q9H9Y6,Q9H9Y6,HGNC:20454 +GARD:0009125,Orphanet+OMIM,248390,OMIM:248390,1,POLR1C,"[AC40, RPA39, RPA40, RPA5, RPAC1, RPC40]",RNA polymerase I and III subunit C,gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,610060,ENSG00000171453,,O15160,O15160,HGNC:20194 +GARD:0009126,Orphanet,990,ORPHA:990,2,OTX2,,orthodenticle homeobox 2,gene with protein product,14q22.3,Modifying germline mutation in,Assessed,[PMID:22577225],600037,ENSG00000165588,,P32243,,HGNC:8522 +GARD:0009126,Orphanet,990,ORPHA:990,2,PRRX1,[PHOX1],paired related homeobox 1,gene with protein product,1q24.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21294718],167420,ENSG00000116132,,P54821,,HGNC:9142 +GARD:0009145,Orphanet,171871,ORPHA:171871,1,NR3C2,[MR],nuclear receptor subfamily 3 group C member 2,gene with protein product,4q31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:16757525, PMID:19571553]",600983,ENSG00000151623,626,P08235,P08235,HGNC:7979 +GARD:0009146,Orphanet,1340,ORPHA:1340,4,MAP2K2,[MEK2],mitogen-activated protein kinase kinase 2,gene with protein product,19p13.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:16825433, PMID:20301365]",601263,ENSG00000126934,2063,P36507,P36507,HGNC:6842 +GARD:0009146,Orphanet,1340,ORPHA:1340,4,KRAS,"[K-Ras4B, KRAS1]","KRAS proto-oncogene, GTPase",gene with protein product,12p12.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:16825433, PMID:20301365]",190070,ENSG00000133703,2824,P01116,P01116,HGNC:6407 +GARD:0009146,Orphanet,1340,ORPHA:1340,4,MAP2K1,"[MAPKK1, MEK1]",mitogen-activated protein kinase kinase 1,gene with protein product,15q22.31,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:16825433, PMID:20301365]",176872,ENSG00000169032,2062,Q02750,Q02750,HGNC:6840 +GARD:0009146,Orphanet,1340,ORPHA:1340,4,BRAF,[BRAF1],"B-Raf proto-oncogene, serine/threonine kinase",gene with protein product,7q34,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:16825433, PMID:20301365]",164757,ENSG00000157764,1943,P15056,P15056,HGNC:1097 +GARD:0009149,Orphanet+OMIM,180100,OMIM:180100,1,RP1,"[DCDC4A, ORP1, doublecortin domain containing 4A, oxygen-regulated protein 1]",RP1 axonemal microtubule associated,gene with protein product,8q11.23-q12.1,The molecular basis of the disorder is known,Unknown,,603937,ENSG00000104237,,P56715,,HGNC:10263 +GARD:0009151,Orphanet+OMIM,210210,OMIM:210210,1,MCCC2,"[3-methylcrotonyl-CoA carboxylase non-biotin containing subunit, MCCB, MCCCβ, methylcrotonoyl-CoA carboxylase beta]",methylcrotonyl-CoA carboxylase subunit 2,gene with protein product,5q13.2,The molecular basis of the disorder is known,Unknown,,609014,ENSG00000131844,,Q9HCC0,Q9HCC0,HGNC:6937 +GARD:0009152,Orphanet,90791,ORPHA:90791,1,HSD3B2,"[SDR11E2, short chain dehydrogenase/reductase family 11E, member 2]","hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2",gene with protein product,1p12,Disease-causing germline mutation(s) in,Assessed,,613890,ENSG00000203859,2622,P26439,P26439,HGNC:5218 +GARD:0009158,Orphanet,53347,ORPHA:53347,1,ATP2A1,"[SERCA1, calcium pump 1, sarcoplasmic/endoplasmic reticulum calcium ATPase 1]",ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1,gene with protein product,16p11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:10914677],108730,ENSG00000196296,840,O14983,O14983,HGNC:811 +GARD:0009159,Orphanet+OMIM,300018,OMIM:300018,1,NR0B1,"[AHCH, DAX1]",nuclear receptor subfamily 0 group B member 1,gene with protein product,Xp21.2,The molecular basis of the disorder is known,Unknown,,300473,ENSG00000169297,objectId:635,P51843,P51843,HGNC:7960 +GARD:0009161,Orphanet,79280,ORPHA:79280,1,NAGA,"[D22S674, alpha-galactosidase B]",alpha-N-acetylgalactosaminidase,gene with protein product,22q13.2,Disease-causing germline mutation(s) in,Assessed,,104170,ENSG00000198951,,P17050,,HGNC:7631 +GARD:0009163,Orphanet,353298,ORPHA:353298,1,RNU4ATAC,"[RNU4ATAC1, U4atac]","RNA, U4atac small nuclear (U12-dependent splicing)",Non-coding RNA,2q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26522830],601428,ENSG00000264229,,,,HGNC:34016 +GARD:0009164,Orphanet,97238,ORPHA:97238,1,CAV3,"[LGMD1C, LQT9, M-caveolin, VIP-21, VIP21]",caveolin 3,gene with protein product,3p25.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:12557291, PMID:15668980]",601253,ENSG00000182533,,P56539,P56539,HGNC:1529 +GARD:0009165,Orphanet+OMIM,600332,OMIM:600332,1,RMD1,,Rippling muscle disease 1,unknown,1q41,The disease phenotype itself was mapped,Unknown,,600332,,,,,GeneID:6022 +GARD:0009166,Orphanet+OMIM,606282,OMIM:606282,1,DFNA24,,"Deafness, autosomal dominant 24",unknown,4q35-qter,The disease phenotype itself was mapped,Unknown,,606282,,,,,GeneID:23723 +GARD:0009167,Orphanet+OMIM,606346,OMIM:606346,1,MYO6,[KIAA0389],myosin VI,gene with protein product,6q14.1,The molecular basis of the disorder is known,Unknown,,600970,ENSG00000196586,,Q9UM54,Q9UM54,HGNC:7605 +GARD:0009168,Orphanet,85195,ORPHA:85195,1,TNFRSF11A,"[CD265, FEO, ODFR, RANK, TRANCE receptor, TRANCE-R, familial expansile osteolysis, osteoclast differentiation factor receptor, receptor activator of nuclear factor kappa B]",TNF receptor superfamily member 11a,gene with protein product,18q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:10615125],603499,ENSG00000141655,1881,Q9Y6Q6,Q9Y6Q6,HGNC:11908 +GARD:0009169,Orphanet,97346,ORPHA:97346,1,ITM2B,"[BRI, BRI2, BRICD2B, BRICHOS domain containing 2B, E25B, E3-16]",integral membrane protein 2B,gene with protein product,13q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:10781099],603904,ENSG00000136156,,Q9Y287,Q9Y287,HGNC:6174 +GARD:0009170,Orphanet,55654,ORPHA:55654,7,LIPH,"[LPDLR, PLA1B, mPA-PLA1, mPA-PLA1alpha, phospholipase A(1)]",lipase H,gene with protein product,3q27.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18445047],607365,ENSG00000163898,,Q8WWY8,Q8WWY8,HGNC:18483 +GARD:0009170,Orphanet,55654,ORPHA:55654,7,LPAR6,[P2Y5],lysophosphatidic acid receptor 6,gene with protein product,13q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18461368],609239,ENSG00000139679,163,P43657,P43657,HGNC:15520 +GARD:0009170,Orphanet,55654,ORPHA:55654,7,RPL21,"[60S ribosomal protein L21, DKFZp686C06101, FLJ27458, L21, MGC104274, MGC104275, MGC71252]",ribosomal protein L21,gene with protein product,13q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21412954],603636,ENSG00000122026,,P46778,P46778,HGNC:10313 +GARD:0009170,Orphanet,55654,ORPHA:55654,7,LSS,"[OSC, Oxidosqualene-lanosterol cyclase]",lanosterol synthase,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30401459],600909,ENSG00000160285,2434,P48449,P48449,HGNC:6708 +GARD:0009170,Orphanet,55654,ORPHA:55654,7,SNRPE,[Sm-E],small nuclear ribonucleoprotein polypeptide E,gene with protein product,1q32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23246290],128260,ENSG00000182004,,P62304,P62304,HGNC:11161 +GARD:0009170,Orphanet,55654,ORPHA:55654,7,APCDD1,[B7323],APC down-regulated 1,gene with protein product,18p11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:20393562],607479,ENSG00000154856,,Q8J025,,HGNC:15718 +GARD:0009170,Orphanet,55654,ORPHA:55654,7,DSG4,"[CDHF13, LAH]",desmoglein 4,gene with protein product,18q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16770573],607892,ENSG00000175065,,Q86SJ6,Q86SJ6,HGNC:21307 +GARD:0009172,Orphanet+OMIM,148700,OMIM:148700,1,DSG1,[CDHF4],desmoglein 1,gene with protein product,18q12.1,The molecular basis of the disorder is known,Unknown,,125670,ENSG00000134760,,Q02413,Q02413,HGNC:3048 +GARD:0009173,Orphanet+OMIM,607654,OMIM:607654,1,KRT1,[KRT1A],keratin 1,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,139350,ENSG00000167768,,P04264,P04264,HGNC:6412 +GARD:0009174,Orphanet,306674,ORPHA:306674,1,ATP13A2,"[CLN12, HSA9947]",ATPase cation transporting 13A2,gene with protein product,1p36.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22166458, PMID:2276817]",610513,ENSG00000159363,3156,Q9NQ11,Q9NQ11,HGNC:30213 +GARD:0009175,Orphanet,171695,ORPHA:171695,2,SNCA,"[α-synuclein, NACP, PD1, a-synuclein, alpha-synuclein, non A4 component of amyloid precursor]",synuclein alpha,gene with protein product,4q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23526723],163890,ENSG00000145335,,P37840,P37840,HGNC:11138 +GARD:0009175,Orphanet,171695,ORPHA:171695,2,FBXO7,"[FBX7, Fbx, PARK15]",F-box protein 7,gene with protein product,22q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19038853],605648,ENSG00000100225,,Q9Y3I1,Q9Y3I1,HGNC:13586 +GARD:0009176,Orphanet,69126,ORPHA:69126,1,PSTPIP1,"[CD2 antigen-binding protein 1, CD2 cytoplasmic tail-binding protein, CD2BP1, CD2BP1L, CD2BP1S, H-PIP, PAPAS, PEST phosphatase-interacting protein 1, PSTPIP]",proline-serine-threonine phosphatase interacting protein 1,gene with protein product,15q24.3,Disease-causing germline mutation(s) in,Assessed,,606347,ENSG00000140368,,O43586,O43586,HGNC:9580 +GARD:0009177,Orphanet,137776,ORPHA:137776,1,ERBB3,"[HER3, human epidermal growth factor receptor 3]",erb-b2 receptor tyrosine kinase 3,gene with protein product,12q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17701904],190151,ENSG00000065361,1798,P21860,P21860,HGNC:3431 +GARD:0009178,Orphanet,85282,ORPHA:85282,1,EIF2S3,"[EIF2, EIF2gamma, eukaryotic translation initiation factor 2G]",eukaryotic translation initiation factor 2 subunit gamma,gene with protein product,Xp22.11,Disease-causing germline mutation(s) in,Assessed,[PMID:28055140],300161,ENSG00000130741,,P41091,P41091,HGNC:3267 +GARD:0009179,Orphanet,75327,ORPHA:75327,1,DHS6S1,,"DNase1 hypersensitivity, chromosome 6, site 1",Disorder-associated locus,6q16.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26507665],616842,,,,,OMIM:616842 +GARD:0009181,Orphanet,86,ORPHA:86,1,COL3A1,,collagen type III alpha 1 chain,gene with protein product,2q32.2,Major susceptibility factor in,Assessed,"[PMID:10388642, PMID:2243125]",120180,ENSG00000168542,,P02461,P02461,HGNC:2201 +GARD:0009184,Orphanet,1159,ORPHA:1159,1,CCN6,"[CCN6, WISP-3]",cellular communication network factor 6,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,"[PMID:10471507, PMID:22987568]",603400,ENSG00000112761,,O95389,,HGNC:12771 +GARD:0009185,Orphanet,99898,ORPHA:99898,1,IFNGR1,[CD119],interferon gamma receptor 1,gene with protein product,6q23.3,Disease-causing germline mutation(s) in,Assessed,,107470,ENSG00000027697,1725,P15260,P15260,HGNC:5439 +GARD:0009189,Orphanet,101084,ORPHA:101084,1,EGR2,"[Krox-20 homolog, Drosophila]",early growth response 2,gene with protein product,10q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301384],129010,ENSG00000122877,,P11161,P11161,HGNC:3239 +GARD:0009190,Orphanet,90658,ORPHA:90658,1,PMP22,"[GAS3, HMSNIA, HNPP, Sp110]",peripheral myelin protein 22,gene with protein product,17p12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301384],601097,ENSG00000109099,,Q01453,Q01453,HGNC:9118 +GARD:0009191,Orphanet,101085,ORPHA:101085,1,NEFL,"[CMT1F, CMT2E, NF68, NFL, PPP1R110, protein phosphatase 1, regulatory subunit 110]",neurofilament light chain,gene with protein product,8p21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301384],162280,ENSG00000277586,,P07196,P07196,HGNC:7739 +GARD:0009192,Orphanet,99936,ORPHA:99936,1,RAB7A,,"RAB7A, member RAS oncogene family",gene with protein product,3q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],602298,ENSG00000075785,,P51149,P51149,HGNC:9788 +GARD:0009193,Orphanet,99939,ORPHA:99939,1,NEFL,"[CMT1F, CMT2E, NF68, NFL, PPP1R110, protein phosphatase 1, regulatory subunit 110]",neurofilament light chain,gene with protein product,8p21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],162280,ENSG00000277586,,P07196,P07196,HGNC:7739 +GARD:0009194,Orphanet,99940,ORPHA:99940,1,HSPB1,"[CMT2F, HSP27, HSP28, Hs.76067, Hsp25]",heat shock protein family B (small) member 1,gene with protein product,7q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],602195,ENSG00000106211,,P04792,P04792,HGNC:5246 +GARD:0009196,Orphanet,101102,ORPHA:101102,1,GDAP1,"[CMT2K, CMT4]",ganglioside induced differentiation associated protein 1,gene with protein product,8q21.11,Candidate gene tested in,Not yet assessed,[PMID:20301462],606598,ENSG00000104381,,Q8TB36,,HGNC:15968 +GARD:0009197,Orphanet,99942,ORPHA:99942,1,MPZ,"[CMT2I, CMT2J, HMSNIB, P0]",myelin protein zero,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],159440,ENSG00000158887,,P25189,,HGNC:7225 +GARD:0009198,Orphanet,99943,ORPHA:99943,1,MPZ,"[CMT2I, CMT2J, HMSNIB, P0]",myelin protein zero,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],159440,ENSG00000158887,,P25189,,HGNC:7225 +GARD:0009199,Orphanet,99944,ORPHA:99944,1,GDAP1,"[CMT2K, CMT4]",ganglioside induced differentiation associated protein 1,gene with protein product,8q21.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301462],606598,ENSG00000104381,,Q8TB36,,HGNC:15968 +GARD:0009200,Orphanet,99956,ORPHA:99956,1,SBF2,"[DENND7B, KIAA1766, MTMR13, myotubularin related 13]",SET binding factor 2,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:20301641],607697,ENSG00000133812,,Q86WG5,Q86WG5,HGNC:2135 +GARD:0009201,Orphanet,99949,ORPHA:99949,1,SH3TC2,"[CMT4C, KIAA1985]",SH3 domain and tetratricopeptide repeats 2,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301514],608206,ENSG00000169247,,Q8TF17,,HGNC:29427 +GARD:0009203,Orphanet,99951,ORPHA:99951,1,EGR2,"[Krox-20 homolog, Drosophila]",early growth response 2,gene with protein product,10q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301641],129010,ENSG00000122877,,P11161,P11161,HGNC:3239 +GARD:0009204,Orphanet,64748,ORPHA:64748,4,PRX,[KIAA1620],periaxin,gene with protein product,19q13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:11133365],605725,ENSG00000105227,,Q9BXM0,,HGNC:13797 +GARD:0009204,Orphanet,64748,ORPHA:64748,4,PMP22,"[GAS3, HMSNIA, HNPP, Sp110]",peripheral myelin protein 22,gene with protein product,17p12,Disease-causing germline mutation(s) in,Assessed,"[PMID:12090401, PMID:18698610]",601097,ENSG00000109099,,Q01453,Q01453,HGNC:9118 +GARD:0009204,Orphanet,64748,ORPHA:64748,4,EGR2,"[Krox-20 homolog, Drosophila]",early growth response 2,gene with protein product,10q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11523566],129010,ENSG00000122877,,P11161,P11161,HGNC:3239 +GARD:0009204,Orphanet,64748,ORPHA:64748,4,MPZ,"[CMT2I, CMT2J, HMSNIB, P0]",myelin protein zero,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:12242557, PMID:8816708]",159440,ENSG00000158887,,P25189,,HGNC:7225 +GARD:0009206,Orphanet,352670,ORPHA:352670,1,GNB4,"[Guanine nucleotide-binding protein subunit beta-4, transducin beta chain 4]",G protein subunit beta 4,gene with protein product,3q26.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23434117],610863,ENSG00000114450,,Q9HAV0,Q9HAV0,HGNC:20731 +GARD:0009207,Orphanet,100046,ORPHA:100046,1,MPZ,"[CMT2I, CMT2J, HMSNIB, P0]",myelin protein zero,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:10406984],159440,ENSG00000158887,,P25189,,HGNC:7225 +GARD:0009208,Orphanet,64751,ORPHA:64751,1,MFN2,"[CMT2A2, CPRP1, KIAA0214, MARF]",mitofusin 2,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,,608507,ENSG00000116688,3131,O95140,O95140,HGNC:16877 +GARD:0009210,Orphanet,49827,ORPHA:49827,1,SLC19A2,[THTR1],solute carrier family 19 member 2,gene with protein product,1q24.2,Disease-causing germline mutation(s) in,Assessed,,603941,ENSG00000117479,1015,O60779,O60779,HGNC:10938 +GARD:0009212,Orphanet,2879,ORPHA:2879,1,WNT7A,"[Wnt-7a, proto-oncogene Wnt7a protein]",Wnt family member 7A,gene with protein product,3p25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:23266637, PMID:23922166]",601570,ENSG00000154764,,O00755,O00755,HGNC:12786 +GARD:0009225,Orphanet,1412,ORPHA:1412,1,NOG,,noggin,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:11545688, PMID:21538686]",602991,ENSG00000183691,,Q13253,Q13253,HGNC:7866 +GARD:0009232,Orphanet,1136,ORPHA:1136,1,FUZ,"[CPLANE3, FLJ22688, Fy]",fuzzy planar cell polarity protein,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:21840926],610622,ENSG00000010361,,Q9BT04,Q9BT04,HGNC:26219 +GARD:0009233,Orphanet,268882,ORPHA:268882,1,DKK1,"[DKK-1, SK]",dickkopf WNT signaling pathway inhibitor 1,gene with protein product,10q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28513615],605189,ENSG00000107984,,O94907,O94907,HGNC:2891 +GARD:0009239,Orphanet,90020,ORPHA:90020,2,TRPM7,"[CHAK1, LTRPC7, TRP-PLIK]",transient receptor potential cation channel subfamily M member 7,gene with protein product,15q21.2,Major susceptibility factor in,Not yet assessed,,605692,ENSG00000092439,499,Q96QT4,Q96QT4,HGNC:17994 +GARD:0009239,Orphanet,90020,ORPHA:90020,2,PARK7,"[DJ-1, DJ1, GATD2]",Parkinsonism associated deglycase,gene with protein product,1p36.23,Major susceptibility factor in,Not yet assessed,,602533,ENSG00000116288,,Q99497,Q99497,HGNC:16369 +GARD:0009242,Orphanet,164736,ORPHA:164736,3,PER3,,period circadian regulator 3,gene with protein product,1p36.23,Disease-causing germline mutation(s) in,Assessed,[PMID:26903630],603427,ENSG00000049246,,P56645,P56645,HGNC:8847 +GARD:0009242,Orphanet,164736,ORPHA:164736,3,CSNK1D,"[CKID, CKIdelta, HCKID]",casein kinase 1 delta,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:15800623],600864,ENSG00000141551,1997,P48730,P48730,HGNC:2452 +GARD:0009242,Orphanet,164736,ORPHA:164736,3,PER2,[KIAA0347],period circadian regulator 2,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,[PMID:11232563],603426,ENSG00000132326,,O15055,O15055,HGNC:8846 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,CASK,"[CAGH39, FGS4, LIN2]",calcium/calmodulin dependent serine protein kinase,gene with protein product,Xp11.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22709267, PMID:24278995]",300172,ENSG00000147044,1959,O14936,O14936,HGNC:1497 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,CDKL5,"[CFAP247, EIEE2]",cyclin dependent kinase like 5,gene with protein product,Xp22.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:22196487, PMID:22787626]",300203,ENSG00000008086,1986,O76039,O76039,HGNC:11411 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,GRIN1,[GluN1],glutamate ionotropic receptor NMDA type subunit 1,gene with protein product,9q34.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:34611970],138249,ENSG00000176884,455,Q05586,Q05586,HGNC:4584 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,SLC25A22,"[EIEE3, FLJ13044, GC1, NET44]",solute carrier family 25 member 22,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:19780765],609302,ENSG00000177542,1058,Q9H936,Q9H936,HGNC:19954 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,NEUROD2,"[NDRF, bHLHa1]",neuronal differentiation 2,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:30323019],601725,ENSG00000171532,,Q15784,,HGNC:7763 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,SIK1,"[msk, myocardial SNF1-like kinase]",salt inducible kinase 1,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25839329],605705,ENSG00000142178,2197,P57059,P57059,HGNC:11142 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,TRIM8,"[GERP, glioblastoma expressed ring finger protein]",tripartite motif containing 8,gene with protein product,10q24.32,Disease-causing germline mutation(s) in,Assessed,[PMID:30244534],606125,ENSG00000171206,,Q9BZR9,Q9BZR9,HGNC:15579 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,KCNA1,"[HUK1, Kv1.1, MBK1, RBK1]",potassium voltage-gated channel subfamily A member 1,gene with protein product,12p13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:30055040],176260,ENSG00000111262,538,Q09470,Q09470,HGNC:6218 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,DMXL2,"[DFNA71, KIAA0856, RC3, rabconnectin 3]",Dmx like 2,gene with protein product,15q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31688942],612186,ENSG00000104093,,Q8TDJ6,,HGNC:2938 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,ARX,"[CT121, EIEE1, ISSX, cancer/testis antigen 121]",aristaless related homeobox,gene with protein product,Xp21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20506206, PMID:22196487, PMID:22787626]",300382,ENSG00000004848,,Q96QS3,,HGNC:18060 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,SCN2A,"[HBSCI, HBSCII, Nav1.2]",sodium voltage-gated channel alpha subunit 2,gene with protein product,2q24.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:23550958, PMID:23935176]",182390,ENSG00000136531,579,Q99250,Q99250,HGNC:10588 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,SCN1B,,sodium voltage-gated channel beta subunit 1,gene with protein product,19q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:28218389],600235,ENSG00000105711,,Q07699,Q07699,HGNC:10586 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,GNAO1,[G-ALPHA-o],G protein subunit alpha o1,gene with protein product,16q13,Disease-causing germline mutation(s) in,Assessed,[PMID:23993195],139311,ENSG00000087258,,P09471,P09471,HGNC:4389 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,PIGQ,"[GPI1, hGPI1]",phosphatidylinositol glycan anchor biosynthesis class Q,gene with protein product,16p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24463883],605754,ENSG00000007541,,Q9BRB3,Q9BRB3,HGNC:14135 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,PIGP,"[DCRC, DSRC, phosphatidylinositol-n-acetylglucosaminyltranferase subunit]",phosphatidylinositol glycan anchor biosynthesis class P,gene with protein product,21q22.13,Disease-causing germline mutation(s) in,Assessed,[PMID:28334793],605938,ENSG00000185808,,P57054,P57054,HGNC:3046 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,GRM7,,glutamate metabotropic receptor 7,gene with protein product,3p26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:34273994],604101,ENSG00000196277,295,Q14831,,HGNC:4599 +GARD:0009255,Orphanet,1934,ORPHA:1934,17,PNKP,[PNK],polynucleotide kinase 3'-phosphatase,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20118933],605610,ENSG00000039650,,Q96T60,Q96T60,HGNC:9154 +GARD:0009265,Orphanet,71277,ORPHA:71277,1,SLC2A1,"[DYT18, DYT9]",solute carrier family 2 member 1,gene with protein product,1p34.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301603, PMID:23890838]",138140,ENSG00000117394,875,P11166,P11166,HGNC:11005 +GARD:0009268,Orphanet+OMIM,137950,OMIM:137950,1,GFND1,,Glomerulopathy with fibronectin deposits 1,unknown,1q32,The disease phenotype itself was mapped,Unknown,,137950,,,,,GeneID:100689213 +GARD:0009275,Orphanet,98960,ORPHA:98960,1,TGFBI,"[BIGH3, CDB1, CDGG1]",transforming growth factor beta induced,gene with protein product,5q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26464103],601692,ENSG00000120708,,Q15582,Q15582,HGNC:11771 +GARD:0009276,Orphanet,98961,ORPHA:98961,1,TGFBI,"[BIGH3, CDB1, CDGG1]",transforming growth factor beta induced,gene with protein product,5q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20360992],601692,ENSG00000120708,,Q15582,Q15582,HGNC:11771 +GARD:0009277,Orphanet,98967,ORPHA:98967,1,UBIAD1,"[TERE1, transitional epithelia response protein]",UbiA prenyltransferase domain containing 1,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,"[PMID:22065921, PMID:23169578]",611632,ENSG00000120942,,Q9Y5Z9,Q9Y5Z9,HGNC:30791 +GARD:0009278,Orphanet,98963,ORPHA:98963,1,TGFBI,"[BIGH3, CDB1, CDGG1]",transforming growth factor beta induced,gene with protein product,5q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22815629],601692,ENSG00000120708,,Q15582,Q15582,HGNC:11771 +GARD:0009279,Orphanet,51208,ORPHA:51208,1,FTCD,,formimidoyltransferase cyclodeaminase,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12815595],606806,ENSG00000160282,,O95954,O95954,HGNC:3974 +GARD:0009281,Orphanet,404560,ORPHA:404560,1,CDKN2A,"[ARF, CDK4I, CMM2, INK4, INK4a, MTS1, p14, p14ARF, p16, p16INK4a, p19, p19Arf]",cyclin dependent kinase inhibitor 2A,gene with protein product,9p21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21249757],600160,ENSG00000147889,,P42771,P42771,HGNC:1787 +GARD:0009283,Orphanet,1168,ORPHA:1168,1,APTX,"[AOA, AOA1, EAOH, EOAHA, FLJ20157]",aprataxin,gene with protein product,9p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301629],606350,ENSG00000137074,,Q7Z2E3,Q7Z2E3,HGNC:15984 +GARD:0009287,Orphanet,1190,ORPHA:1190,1,FLNB,"[ABP-278, FH1, TABP, TAP, actin binding protein 278, beta filamin]",filamin B,gene with protein product,3p14.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:20301736],603381,ENSG00000136068,,O75369,O75369,HGNC:3755 +GARD:0009295,Orphanet,1860,ORPHA:1860,1,FGFR3,"[CD333, CEK2, JTK4]",fibroblast growth factor receptor 3,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301540],134934,ENSG00000068078,1810,P22607,P22607,HGNC:3690 +GARD:0009296,Orphanet,101004,ORPHA:101004,1,SPG24,,spastic paraplegia 24 (autosomal recessive),Disorder-associated locus,13q14,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:22993 +GARD:0009297,Orphanet,51636,ORPHA:51636,1,CXCR4,"[CD184, D2S201E, HM89, HSY3RR, LESTR, NPY3R, NPYR, NPYY3R, fusin]",C-X-C motif chemokine receptor 4,gene with protein product,2q22.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:12692554],162643,ENSG00000121966,71,P61073,P61073,HGNC:2561 +GARD:0009298,Orphanet,3006,ORPHA:3006,3,SLC13A5,"[INDY, NACT]",solute carrier family 13 member 5,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:27912044],608305,ENSG00000141485,981,Q86YT5,Q86YT5,HGNC:23089 +GARD:0009298,Orphanet,3006,ORPHA:3006,3,ALDH7A1,"[26g turgor protein homolog, EPD, P6c dehydrogenase, PDE, alpha-AASA dehydrogenase, alpha-aminoadipic semialdehyde dehydrogenase, antiquitin 1, delta1-piperideine-6-carboxylate dehydrogenease]",aldehyde dehydrogenase 7 family member A1,gene with protein product,5q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301659],107323,ENSG00000164904,,P49419,P49419,HGNC:877 +GARD:0009298,Orphanet,3006,ORPHA:3006,3,PLPBP,,pyridoxal phosphate binding protein,gene with protein product,8p11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:27912044],604436,ENSG00000147471,,O94903,,HGNC:9457 +GARD:0009304,Orphanet,70567,ORPHA:70567,3,PTPN3,[PTPH1],protein tyrosine phosphatase non-receptor type 3,gene with protein product,9q31,Disease-causing somatic mutation(s) in,Assessed,[PMID:24503127],176877,ENSG00000070159,,P26045,P26045,HGNC:9655 +GARD:0009304,Orphanet,70567,ORPHA:70567,3,BRCA1,"[BRCA1/BRCA2-containing complex, subunit 1, BRCC1, FANCS, Fanconi anemia, complementation group S, PPP1R53, RNF53, protein phosphatase 1, regulatory subunit 53]",BRCA1 DNA repair associated,gene with protein product,17q21.31,Disease-causing somatic mutation(s) in,Assessed,[PMID:32576609],113705,ENSG00000012048,,P38398,P38398,HGNC:1100 +GARD:0009304,Orphanet,70567,ORPHA:70567,3,BRCA2,"[BRCA1/BRCA2-containing complex, subunit 2, BRCC2, FAD, FAD1, XRCC11]",BRCA2 DNA repair associated,gene with protein product,13q13.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:32576609],600185,ENSG00000139618,,P51587,P51587,HGNC:1101 +GARD:0009331,Orphanet,33402,ORPHA:33402,2,MET,"[DFNB97, HGFR, RCCP2, hepatocyte growth factor receptor]","MET proto-oncogene, receptor tyrosine kinase",gene with protein product,7q31,Disease-causing somatic mutation(s) in,Assessed,[PMID:9927037],164860,ENSG00000105976,1815,P08581,P08581,HGNC:7029 +GARD:0009331,Orphanet,33402,ORPHA:33402,2,CTNNB1,"[armadillo, beta-catenin]",catenin beta 1,gene with protein product,3p22.1,Candidate gene tested in,Not yet assessed,[PMID:9927029],116806,ENSG00000168036,,P35222,P35222,HGNC:2514 +GARD:0009344,Orphanet,70573,ORPHA:70573,3,TP53,"[LFS1, Li-Fraumeni syndrome, P53, p53]",tumor protein p53,gene with protein product,17p13.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:26168399],191170,ENSG00000141510,,P04637,P04637,HGNC:11998 +GARD:0009344,Orphanet,70573,ORPHA:70573,3,TP73,[P73],tumor protein p73,gene with protein product,1p36.32,Disease-causing somatic mutation(s) in,Assessed,[PMID:26168399],601990,ENSG00000078900,,O15350,O15350,HGNC:12003 +GARD:0009344,Orphanet,70573,ORPHA:70573,3,RB1,"[PPP1R130, RB, prepro-retinoblastoma-associated protein, protein phosphatase 1, regulatory subunit 130]",RB transcriptional corepressor 1,gene with protein product,13q14.2,Disease-causing somatic mutation(s) in,Assessed,[PMID:26168399],614041,ENSG00000139687,,P06400,P06400,HGNC:9884 +GARD:0009412,Orphanet,139396,ORPHA:139396,1,ABCD1,"[ALDP, AMN, adrenoleukodystrophy]",ATP binding cassette subfamily D member 1,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301491],300371,ENSG00000101986,788,P33897,P33897,HGNC:61 +GARD:0009420,Orphanet,2670,ORPHA:2670,1,LAMB2,"[NPHS5, laminin S]",laminin subunit beta 2,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24944146],150325,ENSG00000172037,,P55268,P55268,HGNC:6487 +GARD:0009428,Orphanet+OMIM,607464,OMIM:607464,1,NDUFA13,"[B16.6, CDA016, CGI-39, GRIM-19, GRIM19, complex I B16.6 subunit]",NADH:ubiquinone oxidoreductase subunit A13,gene with protein product,19p13.11,The molecular basis of the disorder is known,Unknown,,609435,ENSG00000186010,,Q9P0J0,Q9P0J0,HGNC:17194 +GARD:0009429,Orphanet,309796,ORPHA:309796,1,GNPAT,"[DAP-AT, DAPAT, DHAPAT, dihydroxyacetone phosphate acyltransferase, glycerone-phosphate O-acyltransferase]",glyceronephosphate O-acyltransferase,gene with protein product,1q42.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21990100],602744,ENSG00000116906,,O15228,O15228,HGNC:4416 +GARD:0009430,Orphanet,93583,ORPHA:93583,1,ADAMTS13,"[DKFZp434C2322, FLJ42993, MGC118899, MGC118900, TTP, VWFCP, vWF-CP]",ADAM metallopeptidase with thrombospondin type 1 motif 13,gene with protein product,9q34.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25587650],604134,ENSG00000160323,1685,Q76LX8,Q76LX8,HGNC:1366 +GARD:0009435,Orphanet+OMIM,608233,OMIM:608233,1,AP3B1,"[ADTB3A, HPS2, beta-3A]",adaptor related protein complex 3 subunit beta 1,gene with protein product,5q14.1,The molecular basis of the disorder is known,Unknown,,603401,ENSG00000132842,,O00203,O00203,HGNC:566 +GARD:0009441,Orphanet,420561,ORPHA:420561,1,KCNH1,"[Kv10.1, eag, eag1, ether-a-go-go 1, h-eag, hEAG]",potassium voltage-gated channel subfamily H member 1,gene with protein product,1q32.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25420144],603305,ENSG00000143473,570,O95259,O95259,HGNC:6250 +GARD:0009442,Orphanet,366,ORPHA:366,1,AGL,"[GDE, glycogen debranching enzyme, glycogen storage disease type III]","amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase",gene with protein product,1p21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:10571954, PMID:17908927]",610860,ENSG00000162688,,P35573,P35573,HGNC:321 +GARD:0009443,Orphanet,85165,ORPHA:85165,1,FGFR3,"[CD333, CEK2, JTK4]",fibroblast growth factor receptor 3,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:10053006, PMID:18076102]",134934,ENSG00000068078,1810,P22607,P22607,HGNC:3690 +GARD:0009452,Orphanet,91414,ORPHA:91414,1,CTNNB1,"[armadillo, beta-catenin]",catenin beta 1,gene with protein product,3p22.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:10192393],116806,ENSG00000168036,,P35222,P35222,HGNC:2514 +GARD:0009453,Orphanet,37553,ORPHA:37553,2,KCNJ5,"[CIR, G protein-activated inward rectifier potassium channel 4, GIRK4, KATP1, Kir3.4, LQT13]",potassium inwardly rectifying channel subfamily J member 5,gene with protein product,11q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24574546],600734,ENSG00000120457,437,P48544,P48544,HGNC:6266 +GARD:0009453,Orphanet,37553,ORPHA:37553,2,KCNJ2,"[IRK1, Kir2.1, LQT7]",potassium inwardly rectifying channel subfamily J member 2,gene with protein product,17q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:16571646, PMID:20301441]",600681,ENSG00000123700,430,P63252,P63252,HGNC:6263 +GARD:0009455,Orphanet,2318,ORPHA:2318,7,TMEM138,"[HSPC196, JBTS16]",transmembrane protein 138,gene with protein product,11q12.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22282472],614459,ENSG00000149483,,Q9NPI0,,HGNC:26944 +GARD:0009455,Orphanet,2318,ORPHA:2318,7,CEP290,"[3H11Ag, BBS14, Bardet-Biedl syndrome 14, CT87, FLJ13615, JBTS5, Joubert syndrome 5, KIAA0373, LCA10, MKS4, Meckel syndrome, type 4, NPHP6, POC3, POC3 centriolar protein homolog (Chlamydomonas), SLSN6, cancer/testis antigen 87, nephrocystin-6, rd16]",centrosomal protein 290,gene with protein product,12q21.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301500, PMID:20615230]",610142,ENSG00000198707,,O15078,O15078,HGNC:29021 +GARD:0009455,Orphanet,2318,ORPHA:2318,7,TMEM216,"[HSPC244, JBTS2, MGC13379]",transmembrane protein 216,gene with protein product,11q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301500],613277,ENSG00000187049,,Q9P0N5,Q9P0N5,HGNC:25018 +GARD:0009455,Orphanet,2318,ORPHA:2318,7,CC2D2A,"[JBTS9, KIAA1345, MKS6, Meckel syndrome, type 6]",coiled-coil and C2 domain containing 2A,gene with protein product,4p15.32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301500],612013,ENSG00000048342,,Q9P2K1,Q9P2K1,HGNC:29253 +GARD:0009455,Orphanet,2318,ORPHA:2318,7,TMEM237,[JBTS14],transmembrane protein 237,gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301500, PMID:22152675]",614423,ENSG00000155755,,Q96Q45,,HGNC:14432 +GARD:0009455,Orphanet,2318,ORPHA:2318,7,TMEM231,"[ALYE870, FLJ22167, JBTS20, MKS11, PRO1886]",transmembrane protein 231,gene with protein product,16q23.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301500, PMID:23012439]",614949,ENSG00000205084,,Q9H6L2,,HGNC:37234 +GARD:0009455,Orphanet,2318,ORPHA:2318,7,ZNF423,"[Early B-cell factor associated zinc finger protein, Ebfaz, JBTS19, KIAA0760, NPHP14, OAZ, OLF-1/EBF associated zinc finger gene, Roaz, Zfp104, early B-cell factor associated zinc finger protein, hOAZ]",zinc finger protein 423,gene with protein product,16q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22863007],604557,ENSG00000102935,,Q2M1K9,,HGNC:16762 +GARD:0009456,Orphanet,75563,ORPHA:75563,1,ALAS2,[sideroblastic/hypochromic anemia],5'-aminolevulinate synthase 2,gene with protein product,Xp11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:21309041],301300,ENSG00000158578,,P22557,P22557,HGNC:397 +GARD:0009457,Orphanet,2924,ORPHA:2924,3,LRP5,"[BMND1, EVR4, HBM, LR3, OPS, OPTA1, VBCH2]",LDL receptor related protein 5,gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24706814],603506,ENSG00000162337,,O75197,O75197,HGNC:6697 +GARD:0009457,Orphanet,2924,ORPHA:2924,3,SEC63,"[DNAJC23, ERdj2, PRO2507, SEC63L]","SEC63 homolog, protein translocation regulator",gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,[PMID:24886261],608648,ENSG00000025796,,Q9UGP8,Q9UGP8,HGNC:21082 +GARD:0009457,Orphanet,2924,ORPHA:2924,3,PRKCSH,"[GIIB, VASAP-60, advanced glycation end-product receptor 2, glucosidase 2 subunit beta, glucosidase II beta subunit, hepatocystin]",protein kinase C substrate 80K-H,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24886261],177060,ENSG00000130175,,P14314,P14314,HGNC:9411 +GARD:0009458,Orphanet+OMIM,609192,OMIM:609192,1,TGFBR1,"[53kDa, ACVRLK4, ALK-5, ALK5, TBR-i, TBRI, activin A receptor type II-like kinase]",transforming growth factor beta receptor 1,gene with protein product,9q22.33,The molecular basis of the disorder is known,Unknown,,190181,ENSG00000106799,objectId:1788,P36897,P36897,HGNC:11772 +GARD:0009465,Orphanet+OMIM,104300,OMIM:104300,5,PLAU,"[UPA, URK]","plasminogen activator, urokinase",gene with protein product,10q22.2,The molecular basis of the disorder is known,Unknown,,191840,ENSG00000122861,objectId:2393,P00749,P00749,HGNC:9052 +GARD:0009465,Orphanet+OMIM,104300,OMIM:104300,5,NOS3,"[ECNOS, eNOS, endothelial nitric oxide synthase]",nitric oxide synthase 3,gene with protein product,7q36.1,The molecular basis of the disorder is known,Unknown,,163729,ENSG00000164867,objectId:1249,P29474,P29474,HGNC:7876 +GARD:0009465,Orphanet+OMIM,104300,OMIM:104300,5,MPO,,myeloperoxidase,gene with protein product,17q22,The molecular basis of the disorder is known,Unknown,,606989,ENSG00000005381,objectId:2789,P05164,P05164,HGNC:7218 +GARD:0009465,Orphanet+OMIM,104300,OMIM:104300,5,APP,"[alpha-sAPP, peptidase nexin-II]",amyloid beta precursor protein,gene with protein product,21q21.3,The molecular basis of the disorder is known,Unknown,,104760,ENSG00000142192,ligandId:4865,P05067,P05067,HGNC:620 +GARD:0009465,Orphanet+OMIM,104300,OMIM:104300,5,HFE,"[HFE1, HLA-H, high Fe]",homeostatic iron regulator,gene with protein product,6p22.2,The molecular basis of the disorder is known,Unknown,,613609,ENSG00000010704,,Q30201,Q30201,HGNC:4886 +GARD:0009472,Orphanet,251630,ORPHA:251630,2,IDH2,,isocitrate dehydrogenase (NADP(+)) 2,gene with protein product,15q26.1,Biomarker tested in,Assessed,"[PMID:19228619, PMID:19554337, PMID:20714900, PMID:21075857, PMID:23109653, PMID:23681562, PMID:24149775]",147650,ENSG00000182054,2885,P48735,P48735,HGNC:5383 +GARD:0009472,Orphanet,251630,ORPHA:251630,2,POT1,"[DKFZp586D211, hPot1]",protection of telomeres 1,gene with protein product,7q31.33,Major susceptibility factor in,Assessed,[PMID:25482530],606478,ENSG00000128513,,Q9NUX5,Q9NUX5,HGNC:17284 +GARD:0009479,Orphanet,79311,ORPHA:79311,1,MMAB,"[ATP:cob(I)alamin adenosyltransferase, CFAP23, cblB, cilia and flagella associated protein 23]",metabolism of cobalamin associated B,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,,607568,ENSG00000139428,,Q96EY8,Q96EY8,HGNC:19331 +GARD:0009481,Orphanet,88924,ORPHA:88924,2,PKD1,"[PBP, Pc-1, TRPP1, polycystin 1, transient receptor potential cation channel, subfamily P, member 1]","polycystin 1, transient receptor potential channel interacting",gene with protein product,16p13.3,Role in the phenotype of,Assessed,"[PMID:15007723, PMID:22169896]",601313,ENSG00000008710,,P98161,P98161,HGNC:9008 +GARD:0009481,Orphanet,88924,ORPHA:88924,2,TSC2,"[LAM, PPP1R160, protein phosphatase 1, regulatory subunit 160, tuberin]",TSC complex subunit 2,gene with protein product,16p13.3,Role in the phenotype of,Assessed,"[PMID:15007723, PMID:22169896]",191092,ENSG00000103197,,P49815,P49815,HGNC:12363 +GARD:0009485,Orphanet+OMIM,137750,OMIM:137750,1,MYOC,"[JOAG1, TIGR, juvenile-onset open-angle glaucoma 1, trabecular meshwork inducible glucocorticoid response protein]",myocilin,gene with protein product,1q24.3,The molecular basis of the disorder is known,Unknown,,601652,ENSG00000034971,,Q99972,,HGNC:7610 +GARD:0009486,Orphanet,88620,ORPHA:88620,2,CNGA2,"[CNG2, FLJ46312, OCNC1, OCNCALPHA, OCNCa, OCNCalpha]",cyclic nucleotide gated channel subunit alpha 2,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:25156905],300338,ENSG00000183862,395,Q16280,Q16280,HGNC:2149 +GARD:0009486,Orphanet,88620,ORPHA:88620,2,TENM1,"[TEN-M1, TEN1]",teneurin transmembrane protein 1,gene with protein product,Xq25,Disease-causing germline mutation(s) in,Assessed,[PMID:27040985],300588,ENSG00000009694,,Q9UKZ4,,HGNC:8117 +GARD:0009489,Orphanet,180188,ORPHA:180188,1,PTPRF,,protein tyrosine phosphatase receptor type F,gene with protein product,1p34.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24781087],179590,ENSG00000142949,1855,P10586,P10586,HGNC:9670 +GARD:0009491,Orphanet+OMIM,608553,OMIM:608553,1,NMNAT1,"[NMNAT, PNAT1, nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1]",nicotinamide nucleotide adenylyltransferase 1,gene with protein product,1p36.22,The molecular basis of the disorder is known,Unknown,,608700,ENSG00000173614,,Q9HAN9,Q9HAN9,HGNC:17877 +GARD:0009492,Orphanet+OMIM,609376,OMIM:609376,1,CTRCT35,[CATCN1],Cataract 35,unknown,19q13,The disease phenotype itself was mapped,Unknown,,609376,,,,,GeneID:619404 +GARD:0009493,Orphanet,602,ORPHA:602,1,GNE,"[Uae1, bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase]",glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:11916006, PMID:20301439]",603824,ENSG00000159921,,Q9Y223,Q9Y223,HGNC:23657 +GARD:0009494,Orphanet,79091,ORPHA:79091,1,MYH2,"[MYH2A, MYHSA2, MYHas8, MyHC-2A, MyHC-IIa]",myosin heavy chain 2,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:11114175],160740,ENSG00000125414,,Q9UKX2,Q9UKX2,HGNC:7572 +GARD:0009495,Orphanet+OMIM,204700,OMIM:204700,1,KLK4,"[EMSP, EMSP1, KLK-L1, PSTS, enamel matrix serine proteinase 1]",kallikrein related peptidase 4,gene with protein product,19q13.41,The molecular basis of the disorder is known,Unknown,,603767,ENSG00000167749,objectId:2374,Q9Y5K2,,HGNC:6365 +GARD:0009496,Orphanet,94088,ORPHA:94088,2,SLC2A9,"[GLUTX, Glut9, URATv1, urate voltage-driven efflux transporter 1]",solute carrier family 2 member 9,gene with protein product,4p16.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19926891, PMID:21810765]",606142,ENSG00000109667,882,Q9NRM0,Q9NRM0,HGNC:13446 +GARD:0009496,Orphanet,94088,ORPHA:94088,2,SLC22A12,"[OAT4L, RST, URAT1]",solute carrier family 22 member 12,gene with protein product,11q13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21148271, PMID:23386035]",607096,ENSG00000197891,1031,Q96S37,Q96S37,HGNC:17989 +GARD:0009499,Orphanet,48818,ORPHA:48818,1,CP,[ferroxidase],ceruloplasmin,gene with protein product,3q24-q25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301666],117700,ENSG00000047457,,P00450,P00450,HGNC:2295 +GARD:0009504,Orphanet+OMIM,607728,OMIM:607728,1,POROK4,[DSAP2],"Porokeratosis 4, disseminated superficial actinic",unknown,15q25.1-q26.1,The disease phenotype itself was mapped,Unknown,,607728,,,,,GeneID:353147 +GARD:0009505,Orphanet+OMIM,175900,OMIM:175900,1,MVK,"[LH receptor mRNA-binding protein, LRBP, MK, mevalonic aciduria]",mevalonate kinase,gene with protein product,12q24.11,The molecular basis of the disorder is known,Unknown,,251170,ENSG00000110921,objectId:640,Q03426,Q03426,HGNC:7530 +GARD:0009508,Orphanet,98989,ORPHA:98989,4,CRYGD,,crystallin gamma D,gene with protein product,2q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:12676897],123690,ENSG00000118231,,P07320,,HGNC:2411 +GARD:0009508,Orphanet,98989,ORPHA:98989,4,MAF,[c-MAF],MAF bZIP transcription factor,gene with protein product,16q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:16470690],177075,ENSG00000178573,,O75444,,HGNC:6776 +GARD:0009508,Orphanet,98989,ORPHA:98989,4,MIP,"[AQP0, LIM1, MP26, aquaporin 0]",major intrinsic protein of lens fiber,gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21850180],154050,ENSG00000135517,687,P30301,P30301,HGNC:7103 +GARD:0009508,Orphanet,98989,ORPHA:98989,4,CRYBB2,,crystallin beta B2,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,"[PMID:19321936, PMID:9158139]",123620,ENSG00000244752,,P43320,,HGNC:2398 +GARD:0009511,Orphanet,137675,ORPHA:137675,1,MT-CYB,"[COB, CYTB, UQCR3]",mitochondrially encoded cytochrome b,gene with protein product,mitochondria,Candidate gene tested in,Not yet assessed,[PMID:10960495],516020,ENSG00000198727,,P00156,P00156,HGNC:7427 +GARD:0009517,Orphanet,97364,ORPHA:97364,1,HNF1B,"[HNF1beta, HNF1ß, LFB3, MODY5, VHNF1, hepatocyte nuclear factor 1 beta]",HNF1 homeobox B,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:20155289, PMID:23725647]",189907,ENSG00000275410,,P35680,P35680,HGNC:11630 +GARD:0009535,Orphanet,47045,ORPHA:47045,1,NLRP3,"[AGTAVPRL, AII, AVP, CLR1.1, Cryopyrin, FCAS, FCU, MWS, NALP3, PYPAF1, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3]",NLR family pyrin domain containing 3,gene with protein product,1q44,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:11687797],606416,ENSG00000162711,1770,Q96P20,Q96P20,HGNC:16400 +GARD:0009558,Orphanet,486,ORPHA:486,5,TCIRG1,"[ATP6N1C, ATP6V0A3, Atp6i, OC-116, OC116, T-cell immune response cDNA 7, TIRC7, V-ATPase subunit a3, a3]","T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",gene with protein product,11q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24753205],604592,ENSG00000110719,825,Q13488,Q13488,HGNC:11647 +GARD:0009558,Orphanet,486,ORPHA:486,5,GFI1,"[GFI-1, GFI1A]",growth factor independent 1 transcriptional repressor,gene with protein product,1p22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12778173],600871,ENSG00000162676,,Q99684,Q99684,HGNC:4237 +GARD:0009558,Orphanet,486,ORPHA:486,5,CLPB,"[ANKCLB, FLJ13152, HSP78, SKD3, ankyrin-repeat containing bacterial clp fusion, suppressor of potassium transport defect 3]",caseinolytic mitochondrial matrix peptidase chaperone subunit B,gene with protein product,11q13.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:34115842],616254,ENSG00000162129,,Q9H078,,HGNC:30664 +GARD:0009558,Orphanet,486,ORPHA:486,5,SRP54,,signal recognition particle 54,gene with protein product,14q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:29914977],604857,ENSG00000100883,,P61011,P61011,HGNC:11301 +GARD:0009558,Orphanet,486,ORPHA:486,5,ELANE,"[HLE, HNE, NE, PMN Elastase, PMN-E, leukocyte elastase, medullasin, neutrophil elastase, polymorphonuclear leukocyte elastase]","elastase, neutrophil expressed",gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,,130130,ENSG00000197561,2358,P08246,P08246,HGNC:3309 +GARD:0009569,Orphanet,31112,ORPHA:31112,2,COL1A1,[OI4],collagen type I alpha 1 chain,gene with protein product,17q21.33,Part of a fusion gene in,Assessed,,120150,ENSG00000108821,,P02452,P02452,HGNC:2197 +GARD:0009569,Orphanet,31112,ORPHA:31112,2,PDGFB,"[SSV, becaplermin, oncogene SIS]",platelet derived growth factor subunit B,gene with protein product,22q13.1,Part of a fusion gene in,Assessed,,190040,ENSG00000100311,,P01127,P01127,HGNC:8800 +GARD:0009571,Orphanet,422526,ORPHA:422526,7,FLCN,"[BHD, DENND8B, MGC17998, MGC23445]",folliculin,gene with protein product,17p11.2,Candidate gene tested in,Not yet assessed,[PMID:12471204],607273,ENSG00000154803,,Q8NFG4,,HGNC:27310 +GARD:0009571,Orphanet,422526,ORPHA:422526,7,OGG1,"[8-hydroxyguanine DNA glycosylase, HMMH, HOGG1, MUTM, OGG1 type 1d, OGG1 type 1e, OGG1 type 1g, OGG1 type 1h, OGH1]",8-oxoguanine DNA glycosylase,gene with protein product,3p25.3,Candidate gene tested in,Not yet assessed,[PMID:10987279],601982,ENSG00000114026,3060,O15527,R-HSA-60887,HGNC:8125 +GARD:0009571,Orphanet,422526,ORPHA:422526,7,RNF139,"[HRCA1, RCA1, TRC8, translocation in renal carcinoma, chromosome 8]",ring finger protein 139,gene with protein product,8q24.13,Part of a fusion gene in,Assessed,,603046,ENSG00000170881,,Q8WU17,Q8WU17,HGNC:17023 +GARD:0009571,Orphanet,422526,ORPHA:422526,7,FHIT,"[AP3Aase, FRA3B, bis(5'-adenosyl)-triphosphatase]",fragile histidine triad diadenosine triphosphatase,gene with protein product,3p14.2,Part of a fusion gene in,Assessed,,601153,ENSG00000189283,,P49789,P49789,HGNC:3701 +GARD:0009571,Orphanet,422526,ORPHA:422526,7,SLC49A4,"[FLJ14784, RCC4, disrupted in renal cancer protein 2, renal cell carcinoma 4]",solute carrier family 49 member 4,gene with protein product,3q21.1,Candidate gene tested in,Not yet assessed,"[PMID:11912179, PMID:11996788]",602773,ENSG00000138463,1913,Q96SL1,,HGNC:16628 +GARD:0009571,Orphanet,422526,ORPHA:422526,7,HSPBAP1,"[FLJ22623, PASS1]",HSPB1 associated protein 1,gene with protein product,3q21.1,Part of a fusion gene in,Assessed,[PMID:12939738],608263,ENSG00000169087,,Q96EW2,,HGNC:16389 +GARD:0009571,Orphanet,422526,ORPHA:422526,7,DIRC3,[FLJ14199],disrupted in renal carcinoma 3,Non-coding RNA,2q35,Part of a fusion gene in,Assessed,[PMID:12939738],608262,ENSG00000231672,,C9JPN6,,HGNC:17805 +GARD:0009572,Orphanet,319298,ORPHA:319298,2,MITF,"[MI, bHLHe32, homolog of mouse microphthalmia]",melanocyte inducing transcription factor,gene with protein product,3p13,Major susceptibility factor in,Assessed,[PMID:22012259],156845,ENSG00000187098,,O75030,O75030,HGNC:7105 +GARD:0009572,Orphanet,319298,ORPHA:319298,2,MET,"[DFNB97, HGFR, RCCP2, hepatocyte growth factor receptor]","MET proto-oncogene, receptor tyrosine kinase",gene with protein product,7q31,Disease-causing somatic mutation(s) in,Assessed,[PMID:26536169],164860,ENSG00000105976,1815,P08581,P08581,HGNC:7029 +GARD:0009578,Orphanet,243367,ORPHA:243367,1,HADHA,"[GBP, LCEH, LCHAD, MTPA, gastrin-binding protein, long-chain 2-enoyl-CoA hydratase, long-chain-3-hydroxyacyl-CoA dehydrogenase, mitochondrial trifunctional protein, alpha subunit]",hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28515471],600890,ENSG00000084754,,P40939,P40939,HGNC:4801 +GARD:0009581,Orphanet,100996,ORPHA:100996,1,ZFYVE26,"[FYVE-CENT, KIAA0321, spastizin]",zinc finger FYVE-type containing 26,gene with protein product,14q24.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18394578, PMID:19805727]",612012,ENSG00000072121,,Q68DK2,,HGNC:20761 +GARD:0009582,Orphanet,101005,ORPHA:101005,1,SPG25,,"spastic paraplegia 25 (autosomal recessive, with disc herniation)",Disorder-associated locus,6q23-q24.1,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:25855 +GARD:0009583,Orphanet,447753,ORPHA:447753,2,ALDH18A1,"[P5CS, delta-1-pyrroline-5-carboxylate synthase]",aldehyde dehydrogenase 18 family member A1,gene with protein product,10q24.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:26026163, PMID:26297558]",138250,ENSG00000059573,,P54886,P54886,HGNC:9722 +GARD:0009583,Orphanet,447753,ORPHA:447753,2,FAR1,"[FLJ22728, SDR10E1, short chain dehydrogenase/reductase family 10E, member 1]",fatty acyl-CoA reductase 1,gene with protein product,11p15.3,Disease-causing germline mutation(s) in,Assessed,[PMID:33239752],616107,ENSG00000197601,,Q8WVX9,Q8WVX9,HGNC:26222 +GARD:0009585,Orphanet,100997,ORPHA:100997,1,SPG16,,"spastic paraplegia 16 (complicated, X-linked recessive)",Disorder-associated locus,Xq11.2,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:14260 +GARD:0009586,Orphanet,100993,ORPHA:100993,2,UBAP1,,ubiquitin associated protein 1,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:32934340],609787,ENSG00000165006,,Q9NZ09,,HGNC:12461 +GARD:0009586,Orphanet,100993,ORPHA:100993,2,RTN2,"[NSP-like protein 1, NSP2, NSPL1, Neuroendocrine-specific protein-like 1]",reticulon 2,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:22232211],603183,ENSG00000125744,,O75298,,HGNC:10468 +GARD:0009587,Orphanet,101006,ORPHA:101006,1,B4GALNT1,"[GD2 synthase, GM2 synthase, beta1-4GalNAc-T]","beta-1,4-N-acetyl-galactosaminyltransferase 1",gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23746551],601873,ENSG00000135454,,Q00973,Q00973,HGNC:4117 +GARD:0009588,Orphanet,100999,ORPHA:100999,1,SPG19,,spastic paraplegia 19 (autosomal dominant),Disorder-associated locus,9q33-q34,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:16706 +GARD:0009589,Orphanet,100995,ORPHA:100995,1,SPG14,,spastic paraplegia 14 (autosomal recessive),Disorder-associated locus,3q27-q28,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:13730 +GARD:0009590,Orphanet,100991,ORPHA:100991,1,KIF5A,"[D12S1889, MY050, NKHC]",kinesin family member 5A,gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21623771],602821,ENSG00000155980,,Q12840,Q12840,HGNC:6323 +GARD:0009591,Orphanet,100989,ORPHA:100989,1,WASHC5,[strumpellin],WASH complex subunit 5,gene with protein product,8q24.13,Disease-causing germline mutation(s) in,Assessed,[PMID:17160902],610657,ENSG00000164961,,Q12768,,HGNC:28984 +GARD:0009595,Orphanet,1195,ORPHA:1195,1,TF,"[PRO1557, PRO2086, serotransferrin]",transferrin,gene with protein product,3q22.1,Disease-causing germline mutation(s) in,Assessed,,190000,ENSG00000091513,,P02787,P02787,HGNC:11740 +GARD:0009602,Orphanet,97,ORPHA:97,1,CACNA1A,"[APCA, Cav2.1, EA2, FHM, HPCA]",calcium voltage-gated channel subunit alpha1 A,gene with protein product,19p13.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301674],601011,ENSG00000141837,532,O00555,O00555,HGNC:1388 +GARD:0009611,Orphanet,98768,ORPHA:98768,1,KCNC3,[Kv3.3],potassium voltage-gated channel subfamily C member 3,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,,176264,ENSG00000131398,550,Q14003,Q14003,HGNC:6235 +GARD:0009615,Orphanet,397,ORPHA:397,4,HLA-B,,"major histocompatibility complex, class I, B",gene with protein product,6p21.33,Major susceptibility factor in,Assessed,[PMID:33734973],142830,ENSG00000234745,,P01889,P30486,HGNC:4932 +GARD:0009615,Orphanet,397,ORPHA:397,4,P4HA2,"[4-PH alpha 2, C-P4Halpha(II), collagen prolyl 4-hydroxylase alpha(II)]",prolyl 4-hydroxylase subunit alpha 2,gene with protein product,5q31.1,Major susceptibility factor in,Assessed,[PMID:28041642],600608,ENSG00000072682,,O15460,,HGNC:8547 +GARD:0009615,Orphanet,397,ORPHA:397,4,HLA-DRB1,,"major histocompatibility complex, class II, DR beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Assessed,[PMID:26223536],142857,ENSG00000196126,,P01911,P04229,HGNC:4948 +GARD:0009615,Orphanet,397,ORPHA:397,4,PTPN22,"[Lyp, Lyp1, Lyp2]",protein tyrosine phosphatase non-receptor type 22,gene with protein product,1p13.2,Major susceptibility factor in,Assessed,[PMID:23946333],600716,ENSG00000134242,3084,Q9Y2R2,Q9Y2R2,HGNC:9652 +GARD:0009616,Orphanet,100994,ORPHA:100994,1,HSPD1,"[GROEL, GroEL, HSP60]",heat shock protein family D (Hsp60) member 1,gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,[PMID:1189812],118190,ENSG00000144381,,P10809,P10809,HGNC:5261 +GARD:0009626,Orphanet+OMIM,602482,OMIM:602482,1,FOXC1,"[ARA, FREAC3, IGDA, IHG1]",forkhead box C1,gene with protein product,6p25.3,The molecular basis of the disorder is known,Unknown,,601090,ENSG00000054598,,Q12948,,HGNC:3800 +GARD:0009628,Orphanet,71517,ORPHA:71517,1,ATP1A3,"[sodium pump subunit alpha-3, sodium-potassium ATPase catalytic subunit alpha-3, sodium/potassium-transporting ATPase subunit alpha-3]",ATPase Na+/K+ transporting subunit alpha 3,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,,182350,ENSG00000105409,835,P13637,P13637,HGNC:801 +GARD:0009630,Orphanet,98806,ORPHA:98806,1,THAP1,"[4833431A01Rik, FLJ10477]",THAP domain containing 1,gene with protein product,8p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:20301334],609520,ENSG00000131931,,Q9NVV9,Q9NVV9,HGNC:20856 +GARD:0009632,Orphanet,77295,ORPHA:77295,1,POLR3A,"[C160, RPC1, RPC155, hRPC155]",RNA polymerase III subunit A,gene with protein product,10q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21855841, PMID:22855961]",614258,ENSG00000148606,,O14802,O14802,HGNC:30074 +GARD:0009634,Orphanet,994,ORPHA:994,6,SLC18A3,[VACHT],solute carrier family 18 member A3,gene with protein product,10q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:31059209],600336,ENSG00000187714,1013,Q16572,Q16572,HGNC:10936 +GARD:0009634,Orphanet,994,ORPHA:994,6,DOK7,"[Dok-7, FLJ33718, FLJ39137]",docking protein 7,gene with protein product,4p16.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19261599],610285,ENSG00000175920,,Q18PE1,Q18PE1,HGNC:26594 +GARD:0009634,Orphanet,994,ORPHA:994,6,MUSK,,muscle associated receptor tyrosine kinase,gene with protein product,9q31.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:25537362, PMID:25612909]",601296,ENSG00000030304,1847,O15146,O15146,HGNC:7525 +GARD:0009634,Orphanet,994,ORPHA:994,6,RAPSN,"[CMS1D, CMS1E, RNF205, rapsyn]",receptor associated protein of the synapse,gene with protein product,11p11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18179903],601592,ENSG00000165917,,Q13702,,HGNC:9863 +GARD:0009634,Orphanet,994,ORPHA:994,6,MYOD1,"[MYOD, PUM, bHLHc1, myoblast determination protein 1]",myogenic differentiation 1,gene with protein product,11p15.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26733463],159970,ENSG00000129152,,P15172,P15172,HGNC:7611 +GARD:0009634,Orphanet,994,ORPHA:994,6,NUP88,[MGC8530],nucleoporin 88,gene with protein product,17p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:30543681],602552,ENSG00000108559,,Q99567,Q99567,HGNC:8067 +GARD:0009640,Orphanet,33110,ORPHA:33110,8,TCF3,"[E2A, E2A immunoglobulin enhancer-binding factor E12/E47, E47, ITF1, MGC129647, MGC129648, VDIR, VDR interacting repressor, bHLHb21, immunoglobulin transcription factor 1, kappa-E2-binding factor, p75, transcription factor E2-alpha]",transcription factor 3,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24216514],147141,ENSG00000071564,,P15923,P15923,HGNC:11633 +GARD:0009640,Orphanet,33110,ORPHA:33110,8,LRRC8A,"[FLJ10337, KIAA1437, SWELL1]",leucine rich repeat containing 8 VRAC subunit A,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,[PMID:14660746],608360,ENSG00000136802,,Q8IWT6,Q8IWT6,HGNC:19027 +GARD:0009640,Orphanet,33110,ORPHA:33110,8,IGLL1,"[14.1, CD179B, IGL5, IGVPB, lambda 5]",immunoglobulin lambda like polypeptide 1,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:9419212],146770,ENSG00000128322,,P15814,P15814,HGNC:5870 +GARD:0009640,Orphanet,33110,ORPHA:33110,8,PIK3R1,"[GRB1, p85, p85-ALPHA, phosphoinositide-3-kinase regulatory subunit alpha]",phosphoinositide-3-kinase regulatory subunit 1,gene with protein product,5q13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22351933],171833,ENSG00000145675,2503,P27986,P27986,HGNC:8979 +GARD:0009640,Orphanet,33110,ORPHA:33110,8,CD79A,"[B-cell antigen receptor complex-associated protein alpha chain, MB-1]",CD79a molecule,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:11920841],112205,ENSG00000105369,,P11912,P11912,HGNC:1698 +GARD:0009640,Orphanet,33110,ORPHA:33110,8,IGHM,,immunoglobulin heavy constant mu,gene with protein product,14q32.33,Disease-causing germline mutation(s) in,Assessed,[PMID:8890099],147020,ENSG00000211899,,P01871,P01871,HGNC:5541 +GARD:0009640,Orphanet,33110,ORPHA:33110,8,BLNK,"[B cell adaptor containing SH2 domain, B-cell activation, B-cell adapter containing a SH2 domain protein, BASH, BLNK-s, Ly57, SLP-65, SLP65, Src homology [SH2] domain-containing leukocyte protein of 65 kD, bca]",B cell linker,gene with protein product,10q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:10583958],604515,ENSG00000095585,,Q8WV28,Q8WV28,HGNC:14211 +GARD:0009640,Orphanet,33110,ORPHA:33110,8,CD79B,"[B-cell antigen receptor complex-associated protein beta chain, B29]",CD79b molecule,gene with protein product,17q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:17675462, PMID:17709424]",147245,ENSG00000007312,2852,P40259,P40259,HGNC:1699 +GARD:0009642,Orphanet+OMIM,600116,OMIM:600116,1,PRKN,"[AR-JP, E3 ubiquitin ligase, PDJ, parkin]",parkin RBR E3 ubiquitin protein ligase,gene with protein product,6q26,The molecular basis of the disorder is known,Unknown,,602544,ENSG00000185345,,O60260,O60260,HGNC:8607 +GARD:0009643,Orphanet,758,ORPHA:758,2,ABCC6,"[EST349056, MLP1, MRP6, URG7]",ATP binding cassette subfamily C member 6,gene with protein product,16p13.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20032990, PMID:20301292]",603234,ENSG00000091262,784,O95255,O95255,HGNC:57 +GARD:0009643,Orphanet,758,ORPHA:758,2,ENPP1,"[PC-1, PCA1]",ectonucleotide pyrophosphatase/phosphodiesterase 1,gene with protein product,6q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25615550],173335,ENSG00000197594,,P22413,P22413,HGNC:3356 +GARD:0009647,Orphanet,98957,ORPHA:98957,1,TACSTD2,"[EGP-1, GA733-1, TROP2, epithelial glycoprotein-1, trophoblast cell surface antigen 2]",tumor associated calcium signal transducer 2,gene with protein product,1p32.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20454699],137290,ENSG00000184292,2837,P09758,,HGNC:11530 +GARD:0009649,Orphanet+OMIM,216900,OMIM:216900,1,CNGA3,"[CCNC1, CCNCa, CNG3]",cyclic nucleotide gated channel subunit alpha 3,gene with protein product,2q11.2,The molecular basis of the disorder is known,Unknown,,600053,ENSG00000144191,objectId:396,Q16281,,HGNC:2150 +GARD:0009650,Orphanet+OMIM,262300,OMIM:262300,1,CNGB3,,cyclic nucleotide gated channel subunit beta 3,gene with protein product,8q21.3,The molecular basis of the disorder is known,Unknown,,605080,ENSG00000170289,objectId:399,Q9NQW8,,HGNC:2153 +GARD:0009657,Orphanet,93347,ORPHA:93347,3,RMRP,"[NME1, RMRPR, RRP2]",RNA component of mitochondrial RNA processing endoribonuclease,Non-coding RNA,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22420014],157660,ENSG00000277027,,,,HGNC:10031 +GARD:0009657,Orphanet,93347,ORPHA:93347,3,NEPRO,"[DKFZP434F2021, NET17]",nucleolus and neural progenitor protein,gene with protein product,3q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:31250547],617089,ENSG00000163608,,Q6NW34,,HGNC:24496 +GARD:0009657,Orphanet,93347,ORPHA:93347,3,POP1,[processing of precursors 1],"POP1 homolog, ribonuclease P/MRP subunit",gene with protein product,8q22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21455487],602486,ENSG00000104356,,Q99575,Q99575,HGNC:30129 +GARD:0009659,Orphanet,93605,ORPHA:93605,1,CLCNKB,[hClC-Kb],chloride voltage-gated channel Kb,gene with protein product,1p36.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:17622951, PMID:24058621]",602023,ENSG00000184908,701,P51801,P51801,HGNC:2027 +GARD:0009661,Orphanet+OMIM,604232,OMIM:604232,1,SPATA7,[HSD3],spermatogenesis associated 7,gene with protein product,14q31.3,The molecular basis of the disorder is known,Unknown,,609868,ENSG00000042317,,Q9P0W8,,HGNC:20423 +GARD:0009662,Orphanet+OMIM,604393,OMIM:604393,1,AIPL1,,aryl hydrocarbon receptor interacting protein like 1,gene with protein product,17p13.2,The molecular basis of the disorder is known,Unknown,,604392,ENSG00000129221,,Q9NZN9,,HGNC:359 +GARD:0009665,Orphanet,99914,ORPHA:99914,1,DICER1,"[Dicer, HERNA, K12H4.8-LIKE, KIAA0928, dicer 1, double-stranded RNA-specific endoribonuclease]","dicer 1, ribonuclease III",gene with protein product,14q32.13,Major susceptibility factor in,Assessed,"[PMID:21205968, PMID:21266384, PMID:21501861, PMID:21882293, PMID:24761742]",606241,ENSG00000100697,,Q9UPY3,Q9UPY3,HGNC:17098 +GARD:0009670,Orphanet,329,ORPHA:329,1,F11,"[FXI, plasma thromboplastin antecedent]",coagulation factor XI,gene with protein product,4q35.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:18312365, PMID:22159456]",264900,ENSG00000088926,2360,P03951,P03951,HGNC:3529 +GARD:0009676,Orphanet,45448,ORPHA:45448,1,DYSF,"[FER1L1, fer-1-like family member 1]",dysferlin,gene with protein product,2p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18853459],603009,ENSG00000135636,,O75923,O75923,HGNC:3097 +GARD:0009677,Orphanet,98962,ORPHA:98962,1,TGFBI,"[BIGH3, CDB1, CDGG1]",transforming growth factor beta induced,gene with protein product,5q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21264234],601692,ENSG00000120708,,Q15582,Q15582,HGNC:11771 +GARD:0009678,Orphanet,98964,ORPHA:98964,1,TGFBI,"[BIGH3, CDB1, CDGG1]",transforming growth factor beta induced,gene with protein product,5q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12770961],601692,ENSG00000120708,,Q15582,Q15582,HGNC:11771 +GARD:0009679,Orphanet,363417,ORPHA:363417,1,CHSY1,"[CSS1, KIAA0990]",chondroitin sulfate synthase 1,gene with protein product,15q26.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21129728],608183,ENSG00000131873,,Q86X52,Q86X52,HGNC:17198 +GARD:0009681,Orphanet,140976,ORPHA:140976,1,TMEM67,"[JBTS6, MGC26979, Meckelin, NPHP11]",transmembrane protein 67,gene with protein product,8q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:29891882],609884,ENSG00000164953,,Q5HYA8,Q5HYA8,HGNC:28396 +GARD:0009682,Orphanet,309803,ORPHA:309803,1,AGPS,"[ADAP-S, ADAS, ADHAPS, ADPS, ALDHPSY]",alkylglycerone phosphate synthase,gene with protein product,2q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21990100],603051,ENSG00000018510,,O00116,O00116,HGNC:327 +GARD:0009683,Orphanet,71,ORPHA:71,1,SAR1B,,secretion associated Ras related GTPase 1B,gene with protein product,5q31.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18786134, PMID:21235735]",607690,ENSG00000152700,,Q9Y6B6,Q9Y6B6,HGNC:10535 +GARD:0009688,Orphanet,98954,ORPHA:98954,2,KRT12,"[K12, Meesmann corneal dystrophy]",keratin 12,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:9171831],601687,ENSG00000187242,,Q99456,Q99456,HGNC:6414 +GARD:0009688,Orphanet,98954,ORPHA:98954,2,KRT3,"[CK3, K3, cytokeratin 3, keratin, type II cytoskeletal 3]",keratin 3,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:9171831],148043,ENSG00000186442,,P12035,P12035,HGNC:6440 +GARD:0009689,Orphanet+OMIM,254210,OMIM:254210,1,CHAT,,choline O-acetyltransferase,gene with protein product,10q11.23,The molecular basis of the disorder is known,Unknown,,118490,ENSG00000070748,objectId:2480,P28329,P28329,HGNC:1912 +GARD:0009694,Orphanet,79403,ORPHA:79403,2,ITGB4,[CD104],integrin subunit beta 4,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:11328943, PMID:20301336]",147557,ENSG00000132470,2458,P16144,P16144,HGNC:6158 +GARD:0009694,Orphanet,79403,ORPHA:79403,2,ITGA6,[CD49f],integrin subunit alpha 6,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301336, PMID:9185503]",147556,ENSG00000091409,2445,P23229,P23229,HGNC:6142 +GARD:0009696,Orphanet,91481,ORPHA:91481,1,PITX2,"[ARP1, Brx1, IGDS, Otlx2, RS]",paired like homeodomain 2,gene with protein product,4q25,Disease-causing germline mutation(s) in,Assessed,[PMID:15591271],601542,ENSG00000164093,,Q99697,Q99697,HGNC:9005 +GARD:0009697,Orphanet,65684,ORPHA:65684,2,CPLANE1,"[FLJ13231, Hug, JBTS17]",ciliogenesis and planar polarity effector complex subunit 1,gene with protein product,5p13.2,Major susceptibility factor in,Assessed,[PMID:22264561],614571,ENSG00000197603,,Q9H799,,HGNC:25801 +GARD:0009697,Orphanet,65684,ORPHA:65684,2,CEP126,,centrosomal protein 126,gene with protein product,11q22.1,Major susceptibility factor in,Assessed,[PMID:22264561],614634,ENSG00000110318,,Q9P2H0,Q9P2H0,HGNC:29264 +GARD:0009703,Orphanet+OMIM,608681,OMIM:608681,1,MESP2,"[SCDO2, bHLHc6]",mesoderm posterior bHLH transcription factor 2,gene with protein product,15q26.1,The molecular basis of the disorder is known,Unknown,,605195,ENSG00000188095,,Q0VG99,,HGNC:29659 +GARD:0009704,Orphanet,85287,ORPHA:85287,1,PHF8,"[JHDM1F, KDM7B, KIAA1111, ZNF422, histone lysine demethylase PHF8, jumonji C domain-containing histone demethylase 1F]",PHD finger protein 8,gene with protein product,Xp11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:17661819],300560,ENSG00000172943,2698,Q9UPP1,Q9UPP1,HGNC:20672 +GARD:0009705,Orphanet,158668,ORPHA:158668,1,PKP1,"[B6P, ectodermal dysplasia/skin fragility syndrome]",plakophilin 1,gene with protein product,1q32.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19945625],601975,ENSG00000081277,,Q13835,Q13835,HGNC:9023 +GARD:0009706,Orphanet,91496,ORPHA:91496,1,KCNJ13,"[Kir1.4, Kir7.1, LCA16]",potassium inwardly rectifying channel subfamily J member 13,gene with protein product,2q37.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18179896],603208,ENSG00000115474,443,O60928,,HGNC:6259 +GARD:0009707,Orphanet,211,ORPHA:211,1,CYLD,"[KIAA0849, USPL2, ubiquitin specific peptidase like 2]",CYLD lysine 63 deubiquitinase,gene with protein product,16q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19462465],605018,ENSG00000083799,,Q9NQC7,Q9NQC7,HGNC:2584 +GARD:0009711,Orphanet,46059,ORPHA:46059,1,SC5D,"[delta(7)-sterol 5(6)-desaturase, lathosterol oxidase]",sterol-C5-desaturase,gene with protein product,11q23.3-q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12812989],602286,ENSG00000109929,,O75845,O75845,HGNC:10547 +GARD:0009715,Orphanet,79478,ORPHA:79478,2,MYO5A,"[GS1, MYO5, MYR12, myosin V, myosin heavy chain 12, myosin, heavy polypeptide kinase, myoxin]",myosin VA,gene with protein product,15q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:12897212],160777,ENSG00000197535,,Q9Y4I1,Q9Y4I1,HGNC:7602 +GARD:0009715,Orphanet,79478,ORPHA:79478,2,MLPH,"[Slac-2a, exophilin-3, l(1)-3Rk, l1Rk3, ln]",melanophilin,gene with protein product,2q37.3,Disease-causing germline mutation(s) in,Assessed,,606526,ENSG00000115648,,Q9BV36,,HGNC:29643 +GARD:0009726,Orphanet+OMIM,603622,OMIM:603622,1,MYH9,"[EPSTS, FTNS, MHA, NMHC-II-A, NMMHCA, nonmuscle myosin heavy chain II-A]",myosin heavy chain 9,gene with protein product,22q12.3,The molecular basis of the disorder is known,Unknown,,160775,ENSG00000100345,,P35579,P35579,HGNC:7579 +GARD:0009728,Orphanet,606,ORPHA:606,1,CNBP,"[CNBP1, RNF163, ZCCHC22]",CCHC-type zinc finger nucleic acid binding protein,gene with protein product,3q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301639],116955,ENSG00000169714,,P62633,P62633,HGNC:13164 +GARD:0009729,Orphanet,101009,ORPHA:101009,1,SPG29,,spastic paraplegia 29 (autosomal dominant),Disorder-associated locus,1p31.1-p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16130112],,,,,,HGNC:30161 +GARD:0009730,Orphanet,34587,ORPHA:34587,1,LAMP2,[CD107b],lysosomal associated membrane protein 2,gene with protein product,Xq24,Disease-causing germline mutation(s) in,Assessed,,309060,ENSG00000005893,,P13473,P13473,HGNC:6501 +GARD:0009732,Orphanet,98956,ORPHA:98956,1,TGFBI,"[BIGH3, CDB1, CDGG1]",transforming growth factor beta induced,gene with protein product,5q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16652336],601692,ENSG00000120708,,Q15582,Q15582,HGNC:11771 +GARD:0009733,Orphanet+OMIM,601277,OMIM:601277,1,ABCA12,"[DKFZP434G232, LI2]",ATP binding cassette subfamily A member 12,gene with protein product,2q35,The molecular basis of the disorder is known,Unknown,,607800,ENSG00000144452,objectId:766,Q86UK0,Q86UK0,HGNC:14637 +GARD:0009734,Orphanet+OMIM,604777,OMIM:604777,1,CYP4F22,[FLJ39501],cytochrome P450 family 4 subfamily F member 22,gene with protein product,19p13.12,The molecular basis of the disorder is known,Unknown,,611495,ENSG00000171954,objectId:1349,Q6NT55,Q6NT55,HGNC:26820 +GARD:0009736,Orphanet,79394,ORPHA:79394,7,ALOXE3,"[E-LOX, Epidermal lipoxygenase-3, eLOX3, hydroperoxide isomerase]",arachidonate lipoxygenase 3,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12780701],607206,ENSG00000179148,1390,Q9BYJ1,Q9BYJ1,HGNC:13743 +GARD:0009736,Orphanet,79394,ORPHA:79394,7,NIPAL4,"[ICHYN, SLC57A6, ichthyin]",NIPA like domain containing 4,gene with protein product,5q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20016120],609383,ENSG00000172548,3038,Q0D2K0,Q0D2K0,HGNC:28018 +GARD:0009736,Orphanet,79394,ORPHA:79394,7,CERS3,[MGC27091],ceramide synthase 3,gene with protein product,15q26.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23549421],615276,ENSG00000154227,2476,Q8IU89,Q8IU89,HGNC:23752 +GARD:0009736,Orphanet,79394,ORPHA:79394,7,PNPLA1,"[FLJ38755, dJ50J22.1]",patatin like phospholipase domain containing 1,gene with protein product,6p21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:22246504],612121,ENSG00000180316,,Q8N8W4,,HGNC:21246 +GARD:0009736,Orphanet,79394,ORPHA:79394,7,ABCA12,"[DKFZP434G232, LI2]",ATP binding cassette subfamily A member 12,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,"[PMID:18284401, PMID:19262603, PMID:22257947]",607800,ENSG00000144452,766,Q86UK0,Q86UK0,HGNC:14637 +GARD:0009736,Orphanet,79394,ORPHA:79394,7,TGM1,"[K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase, LI, LI1, TGASE, TGK]",transglutaminase 1,gene with protein product,14q12,Disease-causing germline mutation(s) in,Assessed,[PMID:12780701],190195,ENSG00000092295,,P22735,P22735,HGNC:11777 +GARD:0009736,Orphanet,79394,ORPHA:79394,7,ALOX12B,"[12R-LOX, 12R-lipoxygenase]","arachidonate 12-lipoxygenase, 12R type",gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:12780701, PMID:16792775, PMID:18347291, PMID:20301593]",603741,ENSG00000179477,1386,O75342,O75342,HGNC:430 +GARD:0009737,Orphanet,79397,ORPHA:79397,2,KRT5,[KRT5A],keratin 5,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301543],148040,ENSG00000186081,,P13647,P13647,HGNC:6442 +GARD:0009737,Orphanet,79397,ORPHA:79397,2,KRT14,"[epidermolysis bullosa simplex, Dowling-Meara, Koebner]",keratin 14,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:16601668, PMID:20301543]",148066,ENSG00000186847,,P02533,P02533,HGNC:6416 +GARD:0009740,Orphanet,334,ORPHA:334,22,MYL4,"[ALC1, AMLC, GT1, PRO1957, atrial myosin light chain 1, myosin, atrial/fetal muscle, light chain]",myosin light chain 4,gene with protein product,17q21.32,Disease-causing germline mutation(s) in,Assessed,[PMID:27066836],160770,ENSG00000198336,,P12829,P12829,HGNC:7585 +GARD:0009740,Orphanet,334,ORPHA:334,22,KCNE2,"[LQT6, MiRP1]",potassium voltage-gated channel subfamily E regulatory subunit 2,gene with protein product,21q22.11,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:15368194],603796,ENSG00000159197,,Q9Y6J6,Q9Y6J6,HGNC:6242 +GARD:0009740,Orphanet,334,ORPHA:334,22,GATA4,,GATA binding protein 4,gene with protein product,8p23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21708142, PMID:21874226, PMID:22552926]",600576,ENSG00000136574,,P43694,P43694,HGNC:4173 +GARD:0009740,Orphanet,334,ORPHA:334,22,GATA5,"[GATAS, bB379O24.1]",GATA binding protein 5,gene with protein product,20q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22483626, PMID:23175127, PMID:23295592]",611496,ENSG00000130700,,Q9BWX5,Q9BWX5,HGNC:15802 +GARD:0009740,Orphanet,334,ORPHA:334,22,ABCC9,"[CMD1O, SUR2, sulfonylurea receptor 2]",ATP binding cassette subfamily C member 9,gene with protein product,12p12.1,Candidate gene tested in,Not yet assessed,[PMID:17245405],601439,ENSG00000069431,2746,O60706,O60706,HGNC:60 +GARD:0009740,Orphanet,334,ORPHA:334,22,KCNE1,"[ISK, IsK, JLNS2, Jervell and Lange-Nielsen syndrome 2, LQT5, Long QT syndrome 5, minK]",potassium voltage-gated channel subfamily E regulatory subunit 1,gene with protein product,21q22.12,Candidate gene tested in,Not yet assessed,[PMID:22471742],176261,ENSG00000180509,,P15382,P15382,HGNC:6240 +GARD:0009740,Orphanet,334,ORPHA:334,22,SCN2B,,sodium voltage-gated channel beta subunit 2,gene with protein product,11q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19808477],601327,ENSG00000149575,,O60939,O60939,HGNC:10589 +GARD:0009740,Orphanet,334,ORPHA:334,22,GJA5,"[CX40, connexin 40]",gap junction protein alpha 5,gene with protein product,1q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20650941],121013,ENSG00000265107,726,P36382,P36382,HGNC:4279 +GARD:0009740,Orphanet,334,ORPHA:334,22,NUP155,"[KIAA0791, N155]",nucleoporin 155,gene with protein product,5p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19070573],606694,ENSG00000113569,,O75694,O75694,HGNC:8063 +GARD:0009740,Orphanet,334,ORPHA:334,22,TTN,"[CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD]",titin,gene with protein product,2q31.2,Major susceptibility factor in,Assessed,[PMID:30333491],188840,ENSG00000155657,2265,Q8WZ42,Q8WZ42,HGNC:12403 +GARD:0009740,Orphanet,334,ORPHA:334,22,NPPA,,natriuretic peptide A,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,[PMID:18614783],108780,ENSG00000175206,,P01160,P01160,HGNC:7939 +GARD:0009740,Orphanet,334,ORPHA:334,22,KCNA5,"[HK2, HPCN1, Kv1.5]",potassium voltage-gated channel subfamily A member 5,gene with protein product,12p13.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:16772329, PMID:19343045]",176267,ENSG00000130037,542,P22460,P22460,HGNC:6224 +GARD:0009740,Orphanet,334,ORPHA:334,22,KCNQ1,"[JLNS1, Jervell and Lange-Nielsen syndrome 1, KCNA8, KVLQT1, Kv7.1, LQT1]",potassium voltage-gated channel subfamily Q member 1,gene with protein product,11p15.5-p15.4,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:12522251, PMID:22471742]",607542,ENSG00000053918,560,P51787,P51787,HGNC:6294 +GARD:0009740,Orphanet,334,ORPHA:334,22,GATA6,,GATA binding protein 6,gene with protein product,18q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22257684, PMID:22750565, PMID:22824924]",601656,ENSG00000141448,,Q92908,Q92908,HGNC:4174 +GARD:0009740,Orphanet,334,ORPHA:334,22,SCN1B,,sodium voltage-gated channel beta subunit 1,gene with protein product,19q13.11,Candidate gene tested in,Not yet assessed,[PMID:19808477],600235,ENSG00000105711,,Q07699,Q07699,HGNC:10586 +GARD:0009740,Orphanet,334,ORPHA:334,22,SCN5A,"[CDCD2, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, long QT syndrome 3]",sodium voltage-gated channel alpha subunit 5,gene with protein product,3p22.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:18378609, PMID:18929244, PMID:24582607]",600163,ENSG00000183873,582,Q14524,Q14524,HGNC:10593 +GARD:0009740,Orphanet,334,ORPHA:334,22,SCN4B,[LQT10],sodium voltage-gated channel beta subunit 4,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23604097],608256,ENSG00000177098,,Q8IWT1,Q8IWT1,HGNC:10592 +GARD:0009740,Orphanet,334,ORPHA:334,22,NKX2-5,"[CSX1, NKX2.5, NKX4-1, tinman (Drosophila) homolog, tinman paralog (Drosophila)]",NK2 homeobox 5,gene with protein product,5q34,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:22818067, PMID:23525379]",600584,ENSG00000183072,,P52952,P52952,HGNC:2488 +GARD:0009740,Orphanet,334,ORPHA:334,22,SCN3B,"[HSA243396, SCNB3]",sodium voltage-gated channel beta subunit 3,gene with protein product,11q24.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20558140, PMID:21051419]",608214,ENSG00000166257,,Q9NY72,Q9NY72,HGNC:20665 +GARD:0009740,Orphanet,334,ORPHA:334,22,PITX2,"[ARP1, Brx1, IGDS, Otlx2, RS]",paired like homeodomain 2,gene with protein product,4q25,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24333117],601542,ENSG00000164093,,Q99697,Q99697,HGNC:9005 +GARD:0009740,Orphanet,334,ORPHA:334,22,KCNJ2,"[IRK1, Kir2.1, LQT7]",potassium inwardly rectifying channel subfamily J member 2,gene with protein product,17q24.3,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:15922306],600681,ENSG00000123700,430,P63252,P63252,HGNC:6263 +GARD:0009740,Orphanet,334,ORPHA:334,22,NKX2-6,"[CSX2, NKX4-2, tinman (Drosophila) homolog, tinman paralog (Drosophila)]",NK2 homeobox 6,gene with protein product,8p21.2,Major susceptibility factor in,Not yet assessed,[PMID:25319568],611770,ENSG00000180053,,A6NCS4,,HGNC:32940 +GARD:0009741,Orphanet,137754,ORPHA:137754,1,ACY1,,aminoacylase 1,gene with protein product,3p21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:16465618],104620,ENSG00000243989,,Q03154,Q03154,HGNC:177 +GARD:0009744,Orphanet,79100,ORPHA:79100,1,LRP1,"[APOER, CD91, LRP, LRP1A, transforming growth factor-β receptor type V, transforming growth factor-ß receptor type V]",LDL receptor related protein 1,gene with protein product,12q13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26142438],107770,ENSG00000123384,,Q07954,Q07954,HGNC:6692 +GARD:0009749,Orphanet,220407,ORPHA:220407,1,HLA-DRB1,,"major histocompatibility complex, class II, DR beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Not yet assessed,,142857,ENSG00000196126,,P01911,P04229,HGNC:4948 +GARD:0009751,Orphanet,220393,ORPHA:220393,5,CCR6,"[BN-1, CD196, CKR-L3, CMKBR6, DCR2, DRY-6, GPR-CY4, GPR29]",C-C motif chemokine receptor 6,gene with protein product,6q27,Major susceptibility factor in,Assessed,[PMID:23983073],601835,ENSG00000112486,63,P51684,P51684,HGNC:1607 +GARD:0009751,Orphanet,220393,ORPHA:220393,5,IRF5,[IRF-5],interferon regulatory factor 5,gene with protein product,7q32.1,Major susceptibility factor in,Assessed,[PMID:23372721],607218,ENSG00000128604,,Q13568,Q13568,HGNC:6120 +GARD:0009751,Orphanet,220393,ORPHA:220393,5,HLA-DRB1,,"major histocompatibility complex, class II, DR beta 1",gene with protein product,6p21.32,Major susceptibility factor in,Not yet assessed,,142857,ENSG00000196126,,P01911,P04229,HGNC:4948 +GARD:0009751,Orphanet,220393,ORPHA:220393,5,CCN2,"[CCN2, IGFBP8]",cellular communication network factor 2,gene with protein product,6q23.2,Major susceptibility factor in,Not yet assessed,,121009,ENSG00000118523,,P29279,P29279,HGNC:2500 +GARD:0009751,Orphanet,220393,ORPHA:220393,5,CAV1,,caveolin 1,gene with protein product,7q31.2,Major susceptibility factor in,Assessed,[PMID:22402147],601047,ENSG00000105974,,Q03135,Q03135,HGNC:1527 +GARD:0009755,Orphanet,411629,ORPHA:411629,1,CTNS,"[CTNS-LSB, PQLC4, SLC66A4]","cystinosin, lysosomal cystine transporter",gene with protein product,17p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301574],606272,ENSG00000040531,3163,O60931,O60931,HGNC:2518 +GARD:0009756,Orphanet,411641,ORPHA:411641,1,CTNS,"[CTNS-LSB, PQLC4, SLC66A4]","cystinosin, lysosomal cystine transporter",gene with protein product,17p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301574],606272,ENSG00000040531,3163,O60931,O60931,HGNC:2518 +GARD:0009758,Orphanet,101049,ORPHA:101049,1,GNA11,"[FBH, FBH2, FHH2]",G protein subunit alpha 11,gene with protein product,19p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23802516],139313,ENSG00000088256,,P29992,P29992,HGNC:4379 +GARD:0009759,Orphanet,2387,ORPHA:2387,1,PLCD1,"[1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1, Phospholipase C d1]",phospholipase C delta 1,gene with protein product,3p22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21665001],602142,ENSG00000187091,1409,P51178,P51178,HGNC:9060 +GARD:0009762,Orphanet,52022,ORPHA:52022,3,PHF21A,"[BHC80, BM-006, KIAA1696]",PHD finger protein 21A,gene with protein product,11p11.2,Role in the phenotype of,Assessed,[PMID:22770980],608325,ENSG00000135365,,Q96BD5,Q96BD5,HGNC:24156 +GARD:0009762,Orphanet,52022,ORPHA:52022,3,EXT2,"[Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, SOTV]",exostosin glycosyltransferase 2,gene with protein product,11p11.2,Role in the phenotype of,Assessed,[PMID:15852040],608210,ENSG00000151348,,Q93063,Q93063,HGNC:3513 +GARD:0009762,Orphanet,52022,ORPHA:52022,3,ALX4,"[FPP, KIAA1788, PFM]",ALX homeobox 4,gene with protein product,11p11.2,Role in the phenotype of,Assessed,[PMID:15852040],605420,ENSG00000052850,,Q9H161,,HGNC:450 +GARD:0009769,Orphanet,251656,ORPHA:251656,1,IDH2,,isocitrate dehydrogenase (NADP(+)) 2,gene with protein product,15q26.1,Biomarker tested in,Assessed,"[PMID:19228619, PMID:19554337, PMID:20714900, PMID:21075857, PMID:23109653, PMID:24149775]",147650,ENSG00000182054,2885,P48735,P48735,HGNC:5383 +GARD:0009775,Orphanet,79145,ORPHA:79145,4,KRT5,[KRT5A],keratin 5,gene with protein product,12q13.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:16465624],148040,ENSG00000186081,,P13647,P13647,HGNC:6442 +GARD:0009775,Orphanet,79145,ORPHA:79145,4,POGLUT1,"[9630046K23Rik, KDELC family like 1, KDELCL1, MDS010, MDSRP, MGC32995, Rumi, hCLP46]",protein O-glucosyltransferase 1,gene with protein product,3q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:24387993],615618,ENSG00000163389,,Q8NBL1,Q8NBL1,HGNC:22954 +GARD:0009775,Orphanet,79145,ORPHA:79145,4,PSENEN,[PEN2],"presenilin enhancer, gamma-secretase subunit",gene with protein product,19q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:28287404],607632,ENSG00000205155,,Q9NZ42,Q9NZ42,HGNC:30100 +GARD:0009775,Orphanet,79145,ORPHA:79145,4,POFUT1,"[FUT12, GDP-fucose protein O-fucosyltransferase 1, KIAA0180, O-FUT, O-Fuc-T, Peptide-O-fucosyltransferase, peptide-O-fucosyltransferase]",protein O-fucosyltransferase 1,gene with protein product,20q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:23684010],607491,ENSG00000101346,,Q9H488,Q9H488,HGNC:14988 +GARD:0009781,Orphanet,1762,ORPHA:1762,1,MECP2,,methyl-CpG binding protein 2,gene with protein product,Xq28,Role in the phenotype of,Assessed,[PMID:17088400],300005,ENSG00000169057,,P51608,P51608,HGNC:6990 +GARD:0009787,Orphanet,90307,ORPHA:90307,1,RASA1,"[CM-AVM, GAP, capillary malformation-arteriovenous malformation, p120, p120 RAS GTPase activating protein, p120GAP, p120RASGAP]",RAS p21 protein activator 1,gene with protein product,5q14.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:18446851, PMID:21348050]",139150,ENSG00000145715,,P20936,P20936,HGNC:9871 +GARD:0009791,Orphanet+OMIM,600204,OMIM:600204,1,COL9A2,[MED],collagen type IX alpha 2 chain,gene with protein product,1p34.2,The molecular basis of the disorder is known,Unknown,,120260,ENSG00000049089,,Q14055,Q14055,HGNC:2218 +GARD:0009792,Orphanet+OMIM,600969,OMIM:600969,1,COL9A3,"[DJ885L7.4.1, EDM3, FLJ90759, IDD, MED, collagen type IX proteoglycan]",collagen type IX alpha 3 chain,gene with protein product,20q13.33,The molecular basis of the disorder is known,Unknown,,120270,ENSG00000092758,,Q14050,Q14050,HGNC:2219 +GARD:0009793,Orphanet,93307,ORPHA:93307,1,SLC26A2,[DTDST],solute carrier family 26 member 2,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301483],606718,ENSG00000155850,1098,P50443,P50443,HGNC:10994 +GARD:0009794,Orphanet,93311,ORPHA:93311,1,MATN3,"[EDM5, HOA]",matrilin 3,gene with protein product,2p24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301302],602109,ENSG00000132031,,O15232,O15232,HGNC:6909 +GARD:0009795,Orphanet,34217,ORPHA:34217,1,JUP,"[DP3, DPIII, PDGB, PG, PKGB, desmosomal protein 3]",junction plakoglobin,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301310],173325,ENSG00000173801,,P14923,P14923,HGNC:6207 +GARD:0009796,Orphanet,275517,ORPHA:275517,1,CASP8,"[Casp-8, FLICE, MACH, MCH5]",caspase 8,gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:16446975, PMID:20301287, PMID:21447005]",601763,ENSG00000064012,1624,Q14790,Q14790,HGNC:1509 +GARD:0009798,Orphanet,137888,ORPHA:137888,3,PLCB4,,phospholipase C beta 4,gene with protein product,20p12.3-p12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22560091],600810,ENSG00000101333,1406,Q15147,Q15147,HGNC:9059 +GARD:0009798,Orphanet,137888,ORPHA:137888,3,GNAI3,"[87U6, Guanine nucleotide-binding protein G(k) subunit alpha]",G protein subunit alpha i3,gene with protein product,1p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22560091],139370,ENSG00000065135,,P08754,P08754,HGNC:4387 +GARD:0009798,Orphanet,137888,ORPHA:137888,3,EDN1,[ET1],endothelin 1,gene with protein product,6p24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24268655],131240,ENSG00000078401,,P05305,P05305,HGNC:3176 +GARD:0009802,Orphanet,79306,ORPHA:79306,2,MYO5B,[KIAA1119],myosin VB,gene with protein product,18q,Disease-causing germline mutation(s) in,Assessed,[PMID:27532546],606540,ENSG00000167306,,Q9ULV0,Q9ULV0,HGNC:7603 +GARD:0009802,Orphanet,79306,ORPHA:79306,2,ATP8B1,"[ATPIC, PFIC]",ATPase phospholipid transporting 8B1,gene with protein product,18q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:20301474],602397,ENSG00000081923,856,O43520,O43520,HGNC:3706 +GARD:0009803,Orphanet,480483,ORPHA:480483,1,TJP2,"[Friedreich ataxia region gene X104 (tight junction protein ZO-2), X104, ZO-2, ZO2, zona occludens 2]",tight junction protein 2,gene with protein product,9q21.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:24614073, PMID:26983395]",607709,ENSG00000119139,,Q9UDY2,Q9UDY2,HGNC:11828 +GARD:0009804,Orphanet,69665,ORPHA:69665,4,NR1H4,"[FXR, HRR-1, HRR1, RIP14, bile acid receptor, farnesoid X receptor]",nuclear receptor subfamily 1 group H member 4,gene with protein product,12q23.1,Candidate gene tested in,Not yet assessed,[PMID:23142591],603826,ENSG00000012504,603,Q96RI1,Q96RI1,HGNC:7967 +GARD:0009804,Orphanet,69665,ORPHA:69665,4,ABCB4,"[GBD1, MDR2, PFIC-3]",ATP binding cassette subfamily B member 4,gene with protein product,7q21.12,Major susceptibility factor in,Assessed,[PMID:23022423],171060,ENSG00000005471,771,P21439,P21439,HGNC:45 +GARD:0009804,Orphanet,69665,ORPHA:69665,4,ATP8B1,"[ATPIC, PFIC]",ATPase phospholipid transporting 8B1,gene with protein product,18q21.31,Major susceptibility factor in,Assessed,[PMID:15888793],602397,ENSG00000081923,856,O43520,O43520,HGNC:3706 +GARD:0009804,Orphanet,69665,ORPHA:69665,4,ABCB11,"[ABC member 16, MDR/TAP subfamily, ABC16, PFIC-2, PGY4, SPGP]",ATP binding cassette subfamily B member 11,gene with protein product,2q31.1,Major susceptibility factor in,Assessed,[PMID:23022423],603201,ENSG00000073734,778,O95342,O95342,HGNC:42 +GARD:0009806,Orphanet,493342,ORPHA:493342,1,ADGRE2,[CD312],adhesion G protein-coupled receptor E2,gene with protein product,19p13.12,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:26841242],606100,ENSG00000127507,183,Q9UHX3,Q9UHX3,HGNC:3337 +GARD:0009812,Orphanet,86872,ORPHA:86872,1,STAT3,[APRF],signal transducer and activator of transcription 3,gene with protein product,17q21.2,Disease-causing somatic mutation(s) in,Assessed,"[PMID:26980727, PMID:29385279]",102582,ENSG00000168610,2994,P40763,P40763,HGNC:11364 +GARD:0009813,Orphanet,79301,ORPHA:79301,1,HSD3B7,"[C(27)-3BETA-HSD, SDR11E3, short chain dehydrogenase/reductase family 11E, member 3]","hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7",gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:12679481],607764,ENSG00000099377,,Q9H2F3,Q9H2F3,HGNC:18324 +GARD:0009814,Orphanet+OMIM,609428,OMIM:609428,1,TUKLS,,Tukel syndrome,unknown,21q22,The disease phenotype itself was mapped,Unknown,,609428,,,,,GeneID:574049 +GARD:0009817,Orphanet,98808,ORPHA:98808,2,IMPDH2,,inosine monophosphate dehydrogenase 2,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:34305140],,,,,,HGNC:6053 +GARD:0009817,Orphanet,98808,ORPHA:98808,2,GCH1,"[DYT5a, GTP cyclohydrolase I, GTPCH1, dopa-responsive dystonia]",GTP cyclohydrolase 1,gene with protein product,14q22.2,Disease-causing germline mutation(s) in,Assessed,,600225,ENSG00000131979,,P30793,P30793,HGNC:4193 +GARD:0009818,Orphanet,79107,ORPHA:79107,1,ACTB,[ß-actin],actin beta,gene with protein product,7p22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16685646],102630,ENSG00000075624,,P60709,P60709,HGNC:132 +GARD:0009826,Orphanet,79318,ORPHA:79318,1,PMM2,"['Congenital disorder of glycosylation, type Ia', CDG1a, CDGS, PMI, PMI1, mannose-6-phosphate isomerase, phosphomannose isomerase 1]",phosphomannomutase 2,gene with protein product,16p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301289, PMID:20301507]",601785,ENSG00000140650,,O15305,O15305,HGNC:9115 +GARD:0009827,Orphanet,79321,ORPHA:79321,1,ALG3,"[CDGS4, D16Ertd36e, NOT56L, Not56, carbohydrate deficient glycoprotein syndrome type IV, dol-P-Man dependent alpha-1,3- mannosyltransferase, dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase]","ALG3 alpha-1,3- mannosyltransferase",gene with protein product,3q27.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301507],608750,ENSG00000214160,,Q92685,Q92685,HGNC:23056 +GARD:0009828,Orphanet,79329,ORPHA:79329,1,MGAT2,[GNT-II],"alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase",gene with protein product,14q21.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301507],602616,ENSG00000168282,,Q10469,Q10469,HGNC:7045 +GARD:0009829,Orphanet,79320,ORPHA:79320,1,ALG6,[dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase],"ALG6 alpha-1,3-glucosyltransferase",gene with protein product,1p31.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301507],604566,ENSG00000088035,,Q9Y672,Q9Y672,HGNC:23157 +GARD:0009830,Orphanet,79319,ORPHA:79319,1,MPI,[mannose-6-phosphate isomerase],mannose phosphate isomerase,gene with protein product,15q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301507],154550,ENSG00000178802,,P34949,P34949,HGNC:7216 +GARD:0009831,Orphanet,79322,ORPHA:79322,1,DPM1,"[CDGIE, DPM synthase complex, catalytic subunit, MPDS]","dolichyl-phosphate mannosyltransferase subunit 1, catalytic",gene with protein product,20q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301507],603503,ENSG00000000419,,O60762,O60762,HGNC:3005 +GARD:0009832,Orphanet,79323,ORPHA:79323,1,MPDU1,"[CDGIf, Lec35, PQLC5, SL15, SLC66A5]",mannose-P-dolichol utilization defect 1,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301507],604041,ENSG00000129255,3164,O75352,O75352,HGNC:7207 +GARD:0009833,Orphanet,79324,ORPHA:79324,1,ALG12,"[CDG1G, ECM39, dol-P-Man dependent alpha-1,6-mannosyltransferase, dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase]","ALG12 alpha-1,6-mannosyltransferase",gene with protein product,22q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301507],607144,ENSG00000182858,,Q9BV10,Q9BV10,HGNC:19358 +GARD:0009834,Orphanet,79325,ORPHA:79325,1,ALG8,"[MGC2840, dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase]","ALG8 alpha-1,3-glucosyltransferase",gene with protein product,11q14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301507],608103,ENSG00000159063,,Q9BVK2,Q9BVK2,HGNC:23161 +GARD:0009836,Orphanet,79326,ORPHA:79326,1,ALG2,"[CDG1I, CDGIi, FLJ14511, NET38, hALPG2]","ALG2 alpha-1,3/1,6-mannosyltransferase",gene with protein product,9q22.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301507],607905,ENSG00000119523,,Q9H553,Q9H553,HGNC:23159 +GARD:0009837,Orphanet,86309,ORPHA:86309,1,DPAGT1,"[ALG7, CDG-Ij, D11S366, DGPT, GPT, GlcNAc-1-P transferase 1, UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1]",dolichyl-phosphate N-acetylglucosaminephosphotransferase 1,gene with protein product,11q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301507],191350,ENSG00000172269,,Q9H3H5,Q9H3H5,HGNC:2995 +GARD:0009838,Orphanet,79327,ORPHA:79327,1,ALG1,"[CDG1K, HMAT1, HMT-1, Mat-1]",ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase,gene with protein product,16p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301507],605907,ENSG00000033011,,Q9BT22,Q9BT22,HGNC:18294 +GARD:0009839,Orphanet,79328,ORPHA:79328,1,ALG9,"[dol-P-Man dependent alpha-1,2-mannosyltransferase, dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase, dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase]","ALG9 alpha-1,2-mannosyltransferase",gene with protein product,11q23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301507],606941,ENSG00000086848,,Q9H6U8,Q9H6U8,HGNC:15672 +GARD:0009841,Orphanet,79332,ORPHA:79332,1,B4GALT1,[beta4Gal-T1],"beta-1,4-galactosyltransferase 1",gene with protein product,9p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301507],137060,ENSG00000086062,,P15291,P15291,HGNC:924 +GARD:0009842,Orphanet,79333,ORPHA:79333,1,COG7,,component of oligomeric golgi complex 7,gene with protein product,16p12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301507],606978,ENSG00000168434,,P83436,P83436,HGNC:18622 +GARD:0009843,Orphanet,90042,ORPHA:90042,1,EPOR,,erythropoietin receptor,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:9192789, PMID:9359528]",133171,ENSG00000187266,1718,P19235,P19235,HGNC:3416 +GARD:0009844,Orphanet,2637,ORPHA:2637,1,PCNT,"[KEN, KIAA0402, PCN, PCNTB, SCKL4, Seckel syndrome 4, kendrin]",pericentrin,gene with protein product,21q22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18174396],605925,ENSG00000160299,,O95613,O95613,HGNC:16068 +GARD:0009846,Orphanet,168796,ORPHA:168796,1,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:18611980],150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0009848,Orphanet,71278,ORPHA:71278,1,GLUL,[glutamine synthetase],glutamate-ammonia ligase,gene with protein product,1q25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:16267323],138290,ENSG00000135821,,P15104,P15104,HGNC:4341 +GARD:0009849,Orphanet,66629,ORPHA:66629,1,KIFBP,"[DKFZP586B0923, KBP, TTC20, kinesin binding protein]",kinesin family binding protein,gene with protein product,10q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:15883926, PMID:23427148]",609367,ENSG00000198954,,Q96EK5,,HGNC:23419 +GARD:0009866,Orphanet,93360,ORPHA:93360,1,KIF22,"[Kid, OBP-1, OBP-2]",kinesin family member 22,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22152677],603213,ENSG00000079616,,Q14807,Q14807,HGNC:6391 +GARD:0009867,Orphanet,98763,ORPHA:98763,1,PRKCG,"[MGC57564, PKC-gamma, PKC?, PKCC]",protein kinase C gamma,gene with protein product,19q13.42,Disease-causing germline mutation(s) in,Assessed,,176980,ENSG00000126583,1484,P05129,P05129,HGNC:9402 +GARD:0009870,Orphanet,71212,ORPHA:71212,1,HADH,"[HADH1, SCHAD]",hydroxyacyl-CoA dehydrogenase,gene with protein product,4q25,Disease-causing germline mutation(s) in,Assessed,,601609,ENSG00000138796,,Q16836,Q16836,HGNC:4799 +GARD:0009873,Orphanet,2789,ORPHA:2789,1,NOTCH3,[CASIL],notch receptor 3,gene with protein product,19p13.12,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:25394726],600276,ENSG00000074181,2860,Q9UM47,Q9UM47,HGNC:7883 +GARD:0009874,Orphanet+OMIM,608030,OMIM:608030,1,FUS,"[FUS1, HNRNPP2, TLS, heterogeneous nuclear ribonucleoprotein P2, hnRNP-P2, translocated in liposarcoma]",FUS RNA binding protein,gene with protein product,16p11.2,The molecular basis of the disorder is known,Unknown,,137070,ENSG00000089280,,P35637,P35637,HGNC:4010 +GARD:0009876,Orphanet+OMIM,132900,OMIM:132900,1,MYH11,"[SMHC, SMMHC, SMMS-1]",myosin heavy chain 11,gene with protein product,16p13.11,The molecular basis of the disorder is known,Unknown,,160745,ENSG00000133392,,P35749,P35749,HGNC:7569 +GARD:0009879,Orphanet,2639,ORPHA:2639,2,BMPR1B,"[ALK6, CDw293]",bone morphogenetic protein receptor type 1B,gene with protein product,4q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26105076],603248,ENSG00000138696,1789,O00238,O00238,HGNC:1077 +GARD:0009879,Orphanet,2639,ORPHA:2639,2,GDF5,"[BMP14, CDMP1, cartilage-derived morphogenetic protein-1]",growth differentiation factor 5,gene with protein product,20q11.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:16222676],601146,ENSG00000125965,,P43026,P43026,HGNC:4220 +GARD:0009882,Orphanet,168588,ORPHA:168588,2,H6PD,"[6-phosphogluconolactonase, GDH/6PGL endoplasmic bifunctional protein, H6PDH]",hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase,gene with protein product,1p36.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18628520],138090,ENSG00000049239,,O95479,,HGNC:4795 +GARD:0009882,Orphanet,168588,ORPHA:168588,2,HSD11B1,"[SDR26C1, short chain dehydrogenase/reductase family 26C, member 1]",hydroxysteroid 11-beta dehydrogenase 1,gene with protein product,1q32.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21325058],600713,ENSG00000117594,2763,P28845,P28845,HGNC:5208 +GARD:0009884,Orphanet,86834,ORPHA:86834,6,NF1,"[Watson disease, neurofibromatosis, von Recklinghausen disease]",neurofibromin 1,gene with protein product,17q11.2,Disease-causing somatic mutation(s) in,Assessed,"[PMID:19571318, PMID:20139388, PMID:23832011]",613113,ENSG00000196712,,P21359,P21359,HGNC:7765 +GARD:0009884,Orphanet,86834,ORPHA:86834,6,PTPN11,"[BPTP3, PTP2C, SH-PTP2, SH2 domain-containing protein tyrosine phosphatase 2, SHP-2, SHP2]",protein tyrosine phosphatase non-receptor type 11,gene with protein product,12q24.13,Disease-causing somatic mutation(s) in,Assessed,"[PMID:19571318, PMID:20139388, PMID:21930766, PMID:23832011]",176876,ENSG00000179295,,Q06124,Q06124,HGNC:9644 +GARD:0009884,Orphanet,86834,ORPHA:86834,6,RRAS,"[Oncogene RRAS, R-Ras]",RAS related,gene with protein product,19q13.33,Candidate gene tested in,Not yet assessed,[PMID:24705357],165090,ENSG00000126458,,P10301,P10301,HGNC:10447 +GARD:0009884,Orphanet,86834,ORPHA:86834,6,KRAS,"[K-Ras4B, KRAS1]","KRAS proto-oncogene, GTPase",gene with protein product,12p12.1,Disease-causing somatic mutation(s) in,Assessed,"[PMID:20139388, PMID:23832011]",190070,ENSG00000133703,2824,P01116,P01116,HGNC:6407 +GARD:0009884,Orphanet,86834,ORPHA:86834,6,NRAS,[N-ras],"NRAS proto-oncogene, GTPase",gene with protein product,1p13.2,Disease-causing somatic mutation(s) in,Assessed,"[PMID:20139388, PMID:22753870, PMID:23832011]",164790,ENSG00000213281,2823,P01111,P01111,HGNC:7989 +GARD:0009884,Orphanet,86834,ORPHA:86834,6,CBL,"[RNF55, c-Cbl, oncogene CBL2]",Cbl proto-oncogene,gene with protein product,11q23.3,Major susceptibility factor in,Not yet assessed,[PMID:23832011],165360,ENSG00000110395,,P22681,P22681,HGNC:1541 +GARD:0009885,Orphanet+OMIM,609942,OMIM:609942,1,KRAS,"[K-Ras4B, KRAS1]","KRAS proto-oncogene, GTPase",gene with protein product,12p12.1,The molecular basis of the disorder is known,Unknown,,190070,ENSG00000133703,objectId:2824,P01116,P01116,HGNC:6407 +GARD:0009886,Orphanet,88621,ORPHA:88621,1,SLC27A4,"[ACSVL4, FATP4]",solute carrier family 27 member 4,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,[PMID:19631310],604194,ENSG00000167114,1111,Q6P1M0,Q6P1M0,HGNC:10998 +GARD:0009887,Orphanet,251287,ORPHA:251287,1,IMPG1,"[GP147, IPM150]",interphotoreceptor matrix proteoglycan 1,gene with protein product,6q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:32817297],602870,ENSG00000112706,,Q17R60,,HGNC:6055 +GARD:0009888,Orphanet,79246,ORPHA:79246,1,PDP1,"[PDH, PDP, PPM2A, protein phosphatase, Mg2+/Mn2+ dependent 2A]",pyruvate dehydrogenase phosphatase catalytic subunit 1,gene with protein product,8q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:15855260],605993,ENSG00000164951,,Q9P0J1,Q9P0J1,HGNC:9279 +GARD:0009890,Orphanet,98673,ORPHA:98673,2,OPA1,"[Dynamin-like 120 kDa protein, mitochondrial, FLJ12460, KIAA0567, MGM1, NPG, NTG, dynamin-like guanosine triphosphatase, mitochondrial dynamin-like GTPase]",OPA1 mitochondrial dynamin like GTPase,gene with protein product,3q29,Disease-causing germline mutation(s) in,Assessed,[PMID:20301426],605290,ENSG00000198836,,O60313,O60313,HGNC:8140 +GARD:0009890,Orphanet,98673,ORPHA:98673,2,DNM1L,"[DRP1, DVLP, DYMPLE, HDYNIV, VPS1]",dynamin 1 like,gene with protein product,12p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:28969390],603850,ENSG00000087470,,O00429,O00429,HGNC:2973 +GARD:0009892,Orphanet+OMIM,610019,OMIM:610019,1,FYCO1,"[FLJ13335, ZFYVE7]",FYVE and coiled-coil domain autophagy adaptor 1,gene with protein product,3p21.31,The molecular basis of the disorder is known,Unknown,,607182,ENSG00000163820,,Q9BQS8,,HGNC:14673 +GARD:0009895,Orphanet+OMIM,616313,OMIM:616313,1,CHRNB1,"[acetylcholine receptor, beta 1 (muscle), nicotinic]",cholinergic receptor nicotinic beta 1 subunit,gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,100710,ENSG00000170175,objectId:471,P11230,,HGNC:1961 +GARD:0009898,Orphanet,88628,ORPHA:88628,1,FLVCR1,"[FLVCR, MFSD7B, PCA, SLC49A1]",FLVCR heme transporter 1,gene with protein product,1q32.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301317, PMID:21267618]",609144,ENSG00000162769,1910,Q9Y5Y0,Q9Y5Y0,HGNC:24682 +GARD:0009901,Orphanet+OMIM,600376,OMIM:600376,1,ACVRL1,"[ALK1, HHT, HHT2, activin receptor-like kinase 1]",activin A receptor like type 1,gene with protein product,12q13.13,The molecular basis of the disorder is known,Unknown,,601284,ENSG00000139567,objectId:1784,P37023,P37023,HGNC:175 +GARD:0009902,Orphanet+OMIM,601101,OMIM:601101,1,HHT3,[ORW3],"Hereditary hemorrhagic telangiectasia, type 3",unknown,5q31.3-q32,The disease phenotype itself was mapped,Unknown,,601101,,,,,GeneID:780903 +GARD:0009903,Orphanet,93338,ORPHA:93338,1,GLI3,"[ACLS, DNA-binding protein, PAP-A, PAPA, PAPA1, PAPB, PPDIV, oncogene GLI3, zinc finger protein GLI3]",GLI family zinc finger 3,gene with protein product,7p14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26394607],165240,ENSG00000106571,,P10071,P10071,HGNC:4319 +GARD:0009905,Orphanet,144,ORPHA:144,11,KRAS,"[K-Ras4B, KRAS1]","KRAS proto-oncogene, GTPase",gene with protein product,12p12.1,Biomarker tested in,Assessed,[PMID:19731079],190070,ENSG00000133703,2824,P01116,P01116,HGNC:6407 +GARD:0009905,Orphanet,144,ORPHA:144,11,PMS2,"[HNPCC4, H_DJ0042M02.9, MLH4]","PMS1 homolog 2, mismatch repair system component",gene with protein product,7p22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18602922, PMID:20301390]",600259,ENSG00000122512,,P54278,P54278,HGNC:9122 +GARD:0009905,Orphanet,144,ORPHA:144,11,MLH1,"[FCC2, HNPCC, HNPCC2]",mutL homolog 1,gene with protein product,3p22.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301390, PMID:23100212, PMID:26149658]",120436,ENSG00000076242,,P40692,P40692,HGNC:7127 +GARD:0009905,Orphanet,144,ORPHA:144,11,MSH6,,mutS homolog 6,gene with protein product,2p16.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301390, PMID:25318681]",600678,ENSG00000116062,,P52701,P52701,HGNC:7329 +GARD:0009905,Orphanet,144,ORPHA:144,11,MLH3,,mutL homolog 3,gene with protein product,14q24.3,Modifying germline mutation in,Assessed,[PMID:12702580],604395,ENSG00000119684,,Q9UHC1,Q9UHC1,HGNC:7128 +GARD:0009905,Orphanet,144,ORPHA:144,11,EPCAM,"[17-1A, 323/A3, CD326, CO-17A, EGP-2, EGP34, EGP40, ESA, Ep-CAM, GA733-2, HEA125, KS1/4, KSA, Ly74, MH99, MK-1, MOC31, TACST-1, TROP1, trophoblast cell surface antigen 1]",epithelial cell adhesion molecule,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301390, PMID:21769135, PMID:23938213]",185535,ENSG00000119888,,P16422,P16422,HGNC:11529 +GARD:0009905,Orphanet,144,ORPHA:144,11,PIK3CA,[PI3K],"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",gene with protein product,3q26.32,Biomarker tested in,Assessed,[PMID:19731079],171834,ENSG00000121879,2153,P42336,P42336,HGNC:8975 +GARD:0009905,Orphanet,144,ORPHA:144,11,TGFBR2,"[TBR-ii, TBRII]",transforming growth factor beta receptor 2,gene with protein product,3p24.1,Candidate gene tested in,Not yet assessed,,190182,ENSG00000163513,1795,P37173,P37173,HGNC:11773 +GARD:0009905,Orphanet,144,ORPHA:144,11,PMS1,[MLH2],"PMS1 homolog 1, mismatch repair system component",gene with protein product,2q32.2,Candidate gene tested in,Not yet assessed,,600258,ENSG00000064933,,P54277,,HGNC:9121 +GARD:0009905,Orphanet,144,ORPHA:144,11,MSH2,"[DNA mismatch repair protein Msh2, HNPCC, HNPCC1]",mutS homolog 2,gene with protein product,2p21-p16.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301390, PMID:22234272, PMID:26076155]",609309,ENSG00000095002,,P43246,P43246,HGNC:7325 +GARD:0009905,Orphanet,144,ORPHA:144,11,FAN1,,FANCD2 and FANCI associated nuclease 1,gene with protein product,15q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26052075],613534,ENSG00000198690,,Q9Y2M0,Q9Y2M0,HGNC:29170 +GARD:0009909,Orphanet+OMIM,601680,OMIM:601680,1,TNNI2,"[DA2B, FSSV, fast-twitch skeletal muscle isoform, fsTnI, troponin I, troponin I fast twitch 2]","troponin I2, fast skeletal type",gene with protein product,11p15.5,The molecular basis of the disorder is known,Unknown,,191043,ENSG00000130598,,P48788,P48788,HGNC:11946 +GARD:0009910,Orphanet,158687,ORPHA:158687,2,DSP,"[DPI, DPII, KPPS2, PPKS2]",desmoplakin,gene with protein product,6p24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:16175511, PMID:20302578]",125647,ENSG00000096696,,P15924,P15924,HGNC:3052 +GARD:0009910,Orphanet,158687,ORPHA:158687,2,JUP,"[DP3, DPIII, PDGB, PG, PKGB, desmosomal protein 3]",junction plakoglobin,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21320868],173325,ENSG00000173801,,P14923,P14923,HGNC:6207 +GARD:0009911,Orphanet+OMIM,609955,OMIM:609955,1,GINGF3,"[GGF3, HGF3]","Fibromatosis, gingival, 3",unknown,2p23.3-p22.3,The disease phenotype itself was mapped,Unknown,,609955,,,,,GeneID:780916 +GARD:0009912,Orphanet,2382,ORPHA:2382,7,CUX2,"[CDP2, KIAA0293]",cut like homeobox 2,gene with protein product,12q24.11-q24.12,Disease-causing germline mutation(s) in,Assessed,[PMID:29630738],610648,ENSG00000111249,,O14529,,HGNC:19347 +GARD:0009912,Orphanet,2382,ORPHA:2382,7,CHD2,"[DKFZp547I1315, DKFZp686E01200, DKFZp781D1727, FLJ38614]",chromodomain helicase DNA binding protein 2,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23708187],602119,ENSG00000173575,,O14647,,HGNC:1917 +GARD:0009912,Orphanet,2382,ORPHA:2382,7,GABRB3,"[GABA(A) receptor, beta 3]",gamma-aminobutyric acid type A receptor subunit beta3,gene with protein product,15q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:23934111, PMID:27476654]",137192,ENSG00000166206,412,P28472,P28472,HGNC:4083 +GARD:0009912,Orphanet,2382,ORPHA:2382,7,MAPK10,"[JNK3, p493F12, p54bSAPK]",mitogen-activated protein kinase 10,gene with protein product,4q21.3,Candidate gene tested in,Not yet assessed,[PMID:16249883],602897,ENSG00000109339,1498,P53779,P53779,HGNC:6872 +GARD:0009912,Orphanet,2382,ORPHA:2382,7,CACNA1A,"[APCA, Cav2.1, EA2, FHM, HPCA]",calcium voltage-gated channel subunit alpha1 A,gene with protein product,19p13.13,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:31468518],601011,ENSG00000141837,532,O00555,O00555,HGNC:1388 +GARD:0009912,Orphanet,2382,ORPHA:2382,7,CACNA1A,"[APCA, Cav2.1, EA2, FHM, HPCA]",calcium voltage-gated channel subunit alpha1 A,gene with protein product,19p13.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31468518],601011,ENSG00000141837,532,O00555,O00555,HGNC:1388 +GARD:0009912,Orphanet,2382,ORPHA:2382,7,DNM1,,dynamin 1,gene with protein product,9q34.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:25262651, PMID:25533962]",602377,ENSG00000106976,,Q05193,Q05193,HGNC:2972 +GARD:0009912,Orphanet,2382,ORPHA:2382,7,SCN1A,"[GEFSP2, HBSCI, NAC1, Nav1.1, SMEI]",sodium voltage-gated channel alpha subunit 1,gene with protein product,2q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:17347258, PMID:19782004, PMID:20301494]",182389,ENSG00000144285,578,P35498,P35498,HGNC:10585 +GARD:0009914,Orphanet+OMIM,601894,OMIM:601894,1,FN1,"[CIG, FINC, GFND2, LETS, MSF, cold-insoluble globulin, lnc-ABCA12-8, migration-stimulating factor]",fibronectin 1,gene with protein product,2q35,The molecular basis of the disorder is known,Unknown,,135600,ENSG00000115414,ligandId:6754,P02751,P02751,HGNC:3778 +GARD:0009916,Orphanet+OMIM,610017,OMIM:610017,1,GDF5,"[BMP14, CDMP1, cartilage-derived morphogenetic protein-1]",growth differentiation factor 5,gene with protein product,20q11.22,The molecular basis of the disorder is known,Unknown,,601146,ENSG00000125965,ligandId:4879,P43026,P43026,HGNC:4220 +GARD:0009918,Orphanet+OMIM,609941,OMIM:609941,1,DFNB51,,"Deafness, autosomal recessive 51",unknown,11p13-p12,The disease phenotype itself was mapped,Unknown,,609941,,,,,GeneID:448963 +GARD:0009919,Orphanet+OMIM,609952,OMIM:609952,1,DFNB55,,"Deafness, autosomal recessive 55",unknown,4q12-q13.2,The disease phenotype itself was mapped,Unknown,,609952,,,,,GeneID:494148 +GARD:0009920,Orphanet,298,ORPHA:298,4,RRM2B,[p53R2],ribonucleotide reductase regulatory TP53 inducible subunit M2B,gene with protein product,8q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19667227],604712,ENSG00000048392,2754,Q7LG56,Q7LG56,HGNC:17296 +GARD:0009920,Orphanet,298,ORPHA:298,4,POLG,"[POLG1, POLGA]","DNA polymerase gamma, catalytic subunit",gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:12825077],174763,ENSG00000140521,,P54098,P54098,HGNC:9179 +GARD:0009920,Orphanet,298,ORPHA:298,4,TYMP,"[Gliostatin, gliostatin]",thymidine phosphorylase,gene with protein product,22q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21933806],131222,ENSG00000025708,,P19971,P19971,HGNC:3148 +GARD:0009920,Orphanet,298,ORPHA:298,4,LIG3,,DNA ligase 3,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:33855352],600940,ENSG00000005156,,P49916,,HGNC:6600 +GARD:0009921,Orphanet,2770,ORPHA:2770,2,TYROBP,"[DAP12, DNAX adaptor protein 12, DNAX-activation protein 12, KARAP, PLO-SL, killer activating receptor associated protein]",transmembrane immune signaling adaptor TYROBP,gene with protein product,19q13.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301376],604142,ENSG00000011600,,O43914,O43914,HGNC:12449 +GARD:0009921,Orphanet,2770,ORPHA:2770,2,TREM2,"[TREM-2, Trem2a, Trem2b, Trem2c]",triggering receptor expressed on myeloid cells 2,gene with protein product,6p21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301376],605086,ENSG00000095970,,Q9NZC2,Q9NZC2,HGNC:17761 +GARD:0009922,Orphanet+OMIM,603553,OMIM:603553,1,PRF1,"[HPLH2, P1, PFP, Perforin, perforin 1 (preforming protein)]",perforin 1,gene with protein product,10q22.1,The molecular basis of the disorder is known,Unknown,,170280,ENSG00000180644,objectId:3100,P14222,,HGNC:9360 +GARD:0009928,Orphanet+OMIM,608898,OMIM:608898,1,UNC13D,[Munc13-4],unc-13 homolog D,gene with protein product,17q25.1,The molecular basis of the disorder is known,Unknown,,608897,ENSG00000092929,,Q70J99,Q70J99,HGNC:23147 +GARD:0009929,Orphanet+OMIM,603552,OMIM:603552,1,STX11,,syntaxin 11,gene with protein product,6q24.2,The molecular basis of the disorder is known,Unknown,,605014,ENSG00000135604,,O75558,,HGNC:11429 +GARD:0009931,Orphanet,35878,ORPHA:35878,1,GLUD1,[GDH],glutamate dehydrogenase 1,gene with protein product,10q23.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20936362, PMID:25733449, PMID:9571255]",138130,ENSG00000148672,,P00367,P00367,HGNC:4335 +GARD:0009932,Orphanet,165991,ORPHA:165991,1,SLC16A1,"[MCT, MCT1]",solute carrier family 16 member 1,gene with protein product,1p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17701893],600682,ENSG00000155380,988,P53985,P53985,HGNC:10922 +GARD:0009933,Orphanet+OMIM,601544,OMIM:601544,1,GJB2,"[CX26, NSRD1, connexin 26]",gap junction protein beta 2,gene with protein product,13q12.11,The molecular basis of the disorder is known,Unknown,,121011,ENSG00000165474,objectId:716,P29033,P29033,HGNC:4284 +GARD:0009934,Orphanet+OMIM,609965,OMIM:609965,1,DFNA53,,"Deafness, autosomal dominant 53",unknown,14q11.2-q12,The disease phenotype itself was mapped,Unknown,,609965,,,,,GeneID:353347 +GARD:0009935,Orphanet+OMIM,609946,OMIM:609946,1,DFNB47,,"Deafness, neurosensory, autosomal recessive 47",unknown,2p25.1-p24.3,The disease phenotype itself was mapped,Unknown,,609946,,,,,GeneID:449489 +GARD:0009936,Orphanet,98813,ORPHA:98813,2,NFKBIA,"[IKBA, IkappaBalpha, MAD-3, NF-kappa-B inhibitor alpha]",NFKB inhibitor alpha,gene with protein product,14q13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18412279],164008,ENSG00000100906,,P25963,P25963,HGNC:7797 +GARD:0009936,Orphanet,98813,ORPHA:98813,2,IKBKG,"[FIP-3, FIP3, Fip3p, IKK-gamma, NEMO, ZC2HC9]",inhibitor of nuclear factor kappa B kinase regulatory subunit gamma,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,,300248,ENSG00000269335,,Q9Y6K9,Q9Y6K9,HGNC:5961 +GARD:0009937,Orphanet+OMIM,608908,OMIM:608908,1,SCO2,[SCO1L],synthesis of cytochrome C oxidase 2,gene with protein product,22q13.33,The molecular basis of the disorder is known,Unknown,,604272,ENSG00000284194,,O43819,O43819,HGNC:10604 +GARD:0009940,Orphanet,66631,ORPHA:66631,1,SNAP29,"[CEDNIK, SNAP-29, soluble 29 kDa NSF attachment protein]",synaptosome associated protein 29,gene with protein product,22q11.21,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:15968592, PMID:21073448]",604202,ENSG00000099940,,O95721,O95721,HGNC:11133 +GARD:0009941,Orphanet,269,ORPHA:269,5,DNMT3B,,DNA methyltransferase 3 beta,gene with protein product,20q11.21,Modifying germline mutation in,Assessed,[PMID:27153398],602900,ENSG00000088305,,Q9UBC3,Q9UBC3,HGNC:2979 +GARD:0009941,Orphanet,269,ORPHA:269,5,DUX4L1,,double homeobox 4 like 1 (pseudogene),Non-coding RNA,4q35.2,Candidate gene tested in,Not yet assessed,,,ENSG00000280757,,,,HGNC:3082 +GARD:0009941,Orphanet,269,ORPHA:269,5,DUX4,,double homeobox 4,gene with protein product,4q35.2,Candidate gene tested in,Not yet assessed,,606009,ENSG00000260596,,Q9UBX2,Q9UBX2,HGNC:50800 +GARD:0009941,Orphanet,269,ORPHA:269,5,SMCHD1,"[FSHD2, KIAA0650]",structural maintenance of chromosomes flexible hinge domain containing 1,gene with protein product,18p11.32,Modifying germline mutation in,Assessed,[PMID:24075187],614982,ENSG00000101596,,A6NHR9,,HGNC:29090 +GARD:0009941,Orphanet,269,ORPHA:269,5,SMCHD1,"[FSHD2, KIAA0650]",structural maintenance of chromosomes flexible hinge domain containing 1,gene with protein product,18p11.32,Disease-causing germline mutation(s) in,Assessed,"[PMID:23143600, PMID:24128691]",614982,ENSG00000101596,,A6NHR9,,HGNC:29090 +GARD:0009941,Orphanet,269,ORPHA:269,5,FRG1,"[FRG1A, FSG1]",FSHD region gene 1,gene with protein product,4q35.2,Candidate gene tested in,Not yet assessed,"[PMID:23300487, PMID:23525014, PMID:23720823]",601278,ENSG00000109536,,Q14331,Q14331,HGNC:3954 +GARD:0009943,Orphanet+OMIM,301200,OMIM:301200,1,AMELX,[amelogenesis imperfecta 1],amelogenin X-linked,gene with protein product,Xp22.2,The molecular basis of the disorder is known,Unknown,,300391,ENSG00000125363,,Q99217,Q99217,HGNC:461 +GARD:0009944,Orphanet+OMIM,301201,OMIM:301201,1,AIH3,[AI1E2],"Amelogenesis imperfecta, hypomaturation or hypoplastic type, X-linked 2",unknown,Xq22-q28,The disease phenotype itself was mapped,Unknown,,301201,,,,,GeneID:201 +GARD:0009947,Orphanet,137831,ORPHA:137831,1,OPHN1,"[ARHGAP41, OPN1]",oligophrenin 1,gene with protein product,Xq12,Disease-causing germline mutation(s) in,Assessed,[PMID:20528889],300127,ENSG00000079482,,O60890,O60890,HGNC:8148 +GARD:0009950,Orphanet,101108,ORPHA:101108,1,PDYN,"[ADCA, PENKB, beta-neoendorphin, dynorphin, leu-enkephalin, leumorphin, neoendorphin-dynorphin-enkephalin prepropeptide, preproenkephalin B, rimorphin]",prodynorphin,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,,131340,ENSG00000101327,,P01213,P01213,HGNC:8820 +GARD:0009951,Orphanet,101109,ORPHA:101109,1,AFG3L2,[SPAX5],AFG3 like matrix AAA peptidase subunit 2,gene with protein product,18p11.21,Disease-causing germline mutation(s) in,Assessed,,604581,ENSG00000141385,,Q9Y4W6,Q9Y4W6,HGNC:315 +GARD:0009952,Orphanet,83461,ORPHA:83461,1,FOXE3,[FREAC8],forkhead box E3,gene with protein product,1p33,Disease-causing germline mutation(s) in,Assessed,[PMID:16826526],601094,ENSG00000186790,,Q13461,,HGNC:3808 +GARD:0009953,Orphanet,251627,ORPHA:251627,2,IDH2,,isocitrate dehydrogenase (NADP(+)) 2,gene with protein product,15q26.1,Biomarker tested in,Assessed,"[PMID:19228619, PMID:19554337, PMID:20714900, PMID:21075857, PMID:23109653, PMID:23681562, PMID:24149775]",147650,ENSG00000182054,2885,P48735,P48735,HGNC:5383 +GARD:0009953,Orphanet,251627,ORPHA:251627,2,POT1,"[DKFZp586D211, hPot1]",protection of telomeres 1,gene with protein product,7q31.33,Major susceptibility factor in,Assessed,[PMID:25482530],606478,ENSG00000128513,,Q9NUX5,Q9NUX5,HGNC:17284 +GARD:0009963,Orphanet,98764,ORPHA:98764,1,FGF14,"[FHF4, SCA27]",fibroblast growth factor 14,gene with protein product,13q33.1,Disease-causing germline mutation(s) in,Assessed,,601515,ENSG00000102466,,Q92915,Q92915,HGNC:3671 +GARD:0009964,Orphanet,97234,ORPHA:97234,1,PGAM2,[PGAM-M],phosphoglycerate mutase 2,gene with protein product,7p13,Disease-causing germline mutation(s) in,Assessed,,612931,ENSG00000164708,,P15259,P15259,HGNC:8889 +GARD:0009965,Orphanet,83639,ORPHA:83639,2,PIGW,"[FLJ37433, Gwt1]",phosphatidylinositol glycan anchor biosynthesis class W,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:27626616],610275,ENSG00000277161,,Q7Z7B1,Q7Z7B1,HGNC:23213 +GARD:0009965,Orphanet,83639,ORPHA:83639,2,PIGM,"[DPM:GlcN-(acyl-)PI mannosyltransferase, GPI mannosyltransferase 1, GPI-MT-I, dol-P-Man dependent GPI mannosyltransferase]",phosphatidylinositol glycan anchor biosynthesis class M,gene with protein product,1q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:16767100],610273,ENSG00000143315,,Q9H3S5,Q9H3S5,HGNC:18858 +GARD:0009966,Orphanet+OMIM,604356,OMIM:604356,1,CHN1,"[2), ARHGAP2, Chimerin 1 (GTPase-activating protein, RhoGAP2, chimaerin 1, n-chimerin, rho]",chimerin 1,gene with protein product,2q31.1,The molecular basis of the disorder is known,Unknown,,118423,ENSG00000128656,,P15882,P15882,HGNC:1943 +GARD:0009970,Orphanet,98765,ORPHA:98765,1,PLEKHG4,"[ARHGEF44, DKFZP434I216, puratrophin-1]",pleckstrin homology and RhoGEF domain containing G4,gene with protein product,16q22.1,Candidate gene tested in,Not yet assessed,"[PMID:18293026, PMID:20301317, PMID:21267591]",609526,ENSG00000196155,,Q58EX7,Q58EX7,HGNC:24501 +GARD:0009971,Orphanet,95433,ORPHA:95433,1,PEX6,"[PAF-2, PXAAA1]",peroxisomal biogenesis factor 6,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:26669662],601498,ENSG00000124587,,Q13608,,HGNC:8859 +GARD:0009975,Orphanet,217012,ORPHA:217012,1,BEAN1,,brain expressed associated with NEDD4 1,gene with protein product,16q21,Disease-causing germline mutation(s) in,Assessed,"[PMID:17611710, PMID:19878914, PMID:20301317, PMID:22992774]",612051,ENSG00000166546,,Q3B7T3,,HGNC:24160 +GARD:0009976,Orphanet,98771,ORPHA:98771,1,IFRD1,"[PC4, TIS7]",interferon related developmental regulator 1,gene with protein product,7q31.1,Disease-causing germline mutation(s) in,Assessed,,603502,ENSG00000006652,,O00458,,HGNC:5456 +GARD:0009977,Orphanet,83472,ORPHA:83472,2,ZNF592,"[CAMOS, KIAA0211]",zinc finger protein 592,gene with protein product,15q25.3,Candidate gene tested in,Not yet assessed,"[PMID:20531441, PMID:26123727]",613624,ENSG00000166716,,Q92610,Q92610,HGNC:28986 +GARD:0009977,Orphanet,83472,ORPHA:83472,2,WDR73,"[FLJ14888, HSPC264]",WD repeat domain 73,gene with protein product,15q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:26123727],616144,ENSG00000177082,,Q6P4I2,,HGNC:25928 +GARD:0009983,Orphanet+OMIM,604537,OMIM:604537,1,LCA5,,lebercilin LCA5,gene with protein product,6q14.1,The molecular basis of the disorder is known,Unknown,,611408,ENSG00000135338,,Q86VQ0,,HGNC:31923 +GARD:0009987,Orphanet,275,ORPHA:275,1,DCLRE1C,"[A-SCID, ARTEMIS, FLJ11360, PSO2 homolog (S. cerevisiae), SNM1C]",DNA cross-link repair 1C,gene with protein product,10p13,Disease-causing germline mutation(s) in,Assessed,[PMID:12055248],605988,ENSG00000152457,,Q96SD1,Q96SD1,HGNC:17642 +GARD:0009989,Orphanet,90154,ORPHA:90154,1,ZMPSTE24,"[CAAX prenyl protease 1 homolog, FACE-1, HGPS, Hutchinson-Gilford progeria syndrome, PRO1, STE24, Ste24p]",zinc metallopeptidase STE24,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:12913070, PMID:18435794]",606480,ENSG00000084073,,O75844,O75844,HGNC:12877 +GARD:0009991,Orphanet,75496,ORPHA:75496,1,B4GALT7,"[XGALT-1, beta4Gal-T7, galactosyltransferase I]","beta-1,4-galactosyltransferase 7",gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:15211654],604327,ENSG00000027847,,Q9UBV7,Q9UBV7,HGNC:930 +GARD:0009995,Orphanet,101112,ORPHA:101112,1,EEF2,"[EEF-2, Polypeptidyl-tRNA translocase, polypeptidyl-tRNA translocase]",eukaryotic translation elongation factor 2,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301317, PMID:23001565]",130610,ENSG00000167658,2756,P13639,P13639,HGNC:3214 +GARD:0009996,Orphanet,101111,ORPHA:101111,1,SCA25,,spinocerebellar ataxia 25,Disorder-associated locus,2p21-p15,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:20684 +GARD:0009997,Orphanet,101110,ORPHA:101110,1,SCA20,,spinocerebellar ataxia 20,Disorder-associated locus,11q12,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:17204 +GARD:0009998,Orphanet,70595,ORPHA:70595,2,POLG,"[POLG1, POLGA]","DNA polymerase gamma, catalytic subunit",gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:12565911, PMID:16919951]",174763,ENSG00000140521,,P54098,P54098,HGNC:9179 +GARD:0009998,Orphanet,70595,ORPHA:70595,2,TWNK,"[FLJ21832, PEO, PEO1, T7 helicase-related protein with intramitochondrial nucleoid localization, TWINKLE, TWINL]",twinkle mtDNA helicase,gene with protein product,10q24.31,Candidate gene tested in,Not yet assessed,[PMID:15668446],606075,ENSG00000107815,,Q96RR1,Q96RR1,HGNC:1160 +GARD:0009999,Orphanet,98773,ORPHA:98773,1,TMEM240,,transmembrane protein 240,gene with protein product,1p36.33,Disease-causing germline mutation(s) in,Assessed,[PMID:25070513],616101,ENSG00000205090,,Q5SV17,,HGNC:25186 +GARD:0010000,Orphanet,94124,ORPHA:94124,1,TDP1,"[FLJ11090, SCAN1]",tyrosyl-DNA phosphodiesterase 1,gene with protein product,14q32.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20301284],607198,ENSG00000042088,,Q9NUW8,Q9NUW8,HGNC:18884 +GARD:0010001,Orphanet,53689,ORPHA:53689,1,SLC26A3,,solute carrier family 26 member 3,gene with protein product,7q22.3-q31.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:11524734, PMID:21394828]",126650,ENSG00000091138,1099,P40879,P40879,HGNC:3018 +GARD:0010005,Orphanet,871,ORPHA:871,4,SCN1B,,sodium voltage-gated channel beta subunit 1,gene with protein product,19q13.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18464934],600235,ENSG00000105711,,Q07699,Q07699,HGNC:10586 +GARD:0010005,Orphanet,871,ORPHA:871,4,SCN5A,"[CDCD2, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, long QT syndrome 3]",sodium voltage-gated channel alpha subunit 5,gene with protein product,3p22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12598077, PMID:19251209, PMID:22717692]",600163,ENSG00000183873,582,Q14524,Q14524,HGNC:10593 +GARD:0010005,Orphanet,871,ORPHA:871,4,TRPM4,[FLJ20041],transient receptor potential cation channel subfamily M member 4,gene with protein product,19q13.33,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:19726882, PMID:20562447]",606936,ENSG00000130529,496,Q8TD43,Q8TD43,HGNC:17993 +GARD:0010005,Orphanet,871,ORPHA:871,4,NKX2-5,"[CSX1, NKX2.5, NKX4-1, tinman (Drosophila) homolog, tinman paralog (Drosophila)]",NK2 homeobox 5,gene with protein product,5q34,Modifying germline mutation in,Assessed,[PMID:22179962],600584,ENSG00000183072,,P52952,P52952,HGNC:2488 +GARD:0010007,Orphanet+OMIM,300310,OMIM:300310,1,SH3KBP1,[CIN85],SH3 domain containing kinase binding protein 1,gene with protein product,Xp22.12,The molecular basis of the disorder is known,Unknown,,300374,ENSG00000147010,,Q96B97,Q96B97,HGNC:13867 +GARD:0010010,Orphanet,79411,ORPHA:79411,1,COL7A1,"[LC collagen, collagen VII, alpha-1 polypeptide]",collagen type VII alpha 1 chain,gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,,120120,ENSG00000114270,,Q02388,Q02388,HGNC:2214 +GARD:0010012,Orphanet,85164,ORPHA:85164,1,FGFR3,"[CD333, CEK2, JTK4]",fibroblast growth factor receptor 3,gene with protein product,4p16.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:17033969, PMID:24864036]",134934,ENSG00000068078,1810,P22607,P22607,HGNC:3690 +GARD:0010018,Orphanet,98974,ORPHA:98974,5,COL8A2,"[FECD1, PPCD, PPCD2]",collagen type VIII alpha 2 chain,gene with protein product,1p34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18464802],120252,ENSG00000171812,,P25067,P25067,HGNC:2216 +GARD:0010018,Orphanet,98974,ORPHA:98974,5,AGBL1,"[CCP4, FLJ32310, cytosolic carboxypeptidase 4]",AGBL carboxypeptidase 1,gene with protein product,15q25.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24094747],615496,ENSG00000273540,,Q96MI9,Q96MI9,HGNC:26504 +GARD:0010018,Orphanet,98974,ORPHA:98974,5,SLC4A11,"[BTR1, FECD4, NaBC1, dJ794I6.2]",solute carrier family 4 member 11,gene with protein product,20p13,Disease-causing germline mutation(s) in,Assessed,[PMID:20848555],610206,ENSG00000088836,913,Q8NBS3,,HGNC:16438 +GARD:0010018,Orphanet,98974,ORPHA:98974,5,TCF4,"[E2-2, ITF2, SEF2-1B, SL3-3 enhancer factor 2, bHLHb19, class B basic helix-loop-helix protein 19, immunoglobulin transcription factor 2]",transcription factor 4,gene with protein product,18q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23185296],602272,ENSG00000196628,,P15884,P15884,HGNC:11634 +GARD:0010018,Orphanet,98974,ORPHA:98974,5,ZEB1,"[AREB6, BZP, FECD6, NIL-2-A, ZEB, Zfhep, Zfhx1a]",zinc finger E-box binding homeobox 1,gene with protein product,10p11.22,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20036349],189909,ENSG00000148516,,P37275,P37275,HGNC:11642 +GARD:0010023,Orphanet+OMIM,609220,OMIM:609220,1,PLOD2,"[LH2, TLH, lysyl hydroxlase 2, procollagen lysyl hydroxylase 2, telopeptidyl lysyl hydroxylase]","procollagen-lysine,2-oxoglutarate 5-dioxygenase 2",gene with protein product,3q24,The molecular basis of the disorder is known,Unknown,,601865,ENSG00000152952,,O00469,O00469,HGNC:9082 +GARD:0010027,Orphanet,140,ORPHA:140,1,SOX9,[SRA1],SRY-box transcription factor 9,gene with protein product,17q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301724, PMID:22051515]",608160,ENSG00000125398,,P48436,P48436,HGNC:11204 +GARD:0010028,Orphanet,99960,ORPHA:99960,1,ATP8B1,"[ATPIC, PFIC]",ATPase phospholipid transporting 8B1,gene with protein product,18q21.31,Disease-causing germline mutation(s) in,Assessed,,602397,ENSG00000081923,856,O43520,O43520,HGNC:3706 +GARD:0010029,Orphanet,99961,ORPHA:99961,1,ABCB11,"[ABC member 16, MDR/TAP subfamily, ABC16, PFIC-2, PGY4, SPGP]",ATP binding cassette subfamily B member 11,gene with protein product,2q31.1,Disease-causing germline mutation(s) in,Assessed,,603201,ENSG00000073734,778,O95342,O95342,HGNC:42 +GARD:0010033,Orphanet+OMIM,608542,OMIM:608542,1,ANIB2,,"Aneurysm, intracranial berry, 2",unknown,19q13,The disease phenotype itself was mapped,Unknown,,608542,,,,,GeneID:449013 +GARD:0010039,Orphanet,79155,ORPHA:79155,1,KYNU,[L-kynurenine hydrolase],kynureninase,gene with protein product,2q22.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17334708],605197,ENSG00000115919,,Q16719,Q16719,HGNC:6469 +GARD:0010041,Orphanet,1200,ORPHA:1200,2,POLR1A,"[DKFZP586M0122, FLJ21915, RPA1, RPA190, RPO1-4]",RNA polymerase I subunit A,gene with protein product,2p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25913037],616404,ENSG00000068654,,O95602,O95602,HGNC:17264 +GARD:0010041,Orphanet,1200,ORPHA:1200,2,TXNL4A,"[DIB1, DIM1, HsT161, SNRNP15, U5-15kD, similar to S. pombe dim1+]",thioredoxin like 4A,gene with protein product,18q23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25434003],611595,ENSG00000141759,,P83876,P83876,HGNC:30551 +GARD:0010043,Orphanet+OMIM,602083,OMIM:602083,1,PCDH15,"[CDHR15, cadherin-related family member 15]",protocadherin related 15,gene with protein product,10q21.1,The molecular basis of the disorder is known,Unknown,,605514,ENSG00000150275,,Q96QU1,Q96QU1,HGNC:14674 +GARD:0010045,Orphanet,79303,ORPHA:79303,1,AKR1D1,[delta 4-3-ketosteroid-5-beta-reductase],aldo-keto reductase family 1 member D1,gene with protein product,7q33,Disease-causing germline mutation(s) in,Assessed,[PMID:12970144],604741,ENSG00000122787,,P51857,P51857,HGNC:388 +GARD:0010046,Orphanet,79095,ORPHA:79095,1,AMACR,"[P504S, RACE]",alpha-methylacyl-CoA racemase,gene with protein product,5p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18577977],604489,ENSG00000242110,,Q9UHK6,Q9UHK6,HGNC:451 +GARD:0010049,Orphanet,75377,ORPHA:75377,3,PRPH2,"[CACD2, TSPAN22, rd2, retinal peripherin]",peripherin 2,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:14557183],179605,ENSG00000112619,,P23942,,HGNC:9942 +GARD:0010049,Orphanet,75377,ORPHA:75377,3,GUCY2D,"[CYGD, LCA1, RETGC-1, ROS-GC1, retGC, retinal guanylate cyclase 1, rod outer segment membrane guanylate cyclase]","guanylate cyclase 2D, retinal",gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22695961],600179,ENSG00000132518,2031,Q02846,Q02846,HGNC:4689 +GARD:0010049,Orphanet,75377,ORPHA:75377,3,GUCA1A,"[COD3, CORD14, GCAP, GCAP1, cone dystrophy 3, dJ139D8.6]",guanylate cyclase activator 1A,gene with protein product,6p21.1,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:28125083],600364,ENSG00000048545,,P43080,P43080,HGNC:4678 +GARD:0010050,Orphanet,41751,ORPHA:41751,1,CYP4V2,[CYP4AH1],cytochrome P450 family 4 subfamily V member 2,gene with protein product,4q35.1-q35.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:15042513, PMID:21565171, PMID:22497028]",608614,ENSG00000145476,1350,Q6ZWL3,Q6ZWL3,HGNC:23198 +GARD:0010051,Orphanet,69085,ORPHA:69085,1,TP63,"[EEC3, KET, NBP, OFC8, SHFM4, p51, p53CP, p63, p73H, p73L]",tumor protein p63,gene with protein product,3q28,Disease-causing germline mutation(s) in,Assessed,[PMID:11462173],603273,ENSG00000073282,,Q9H3D4,Q9H3D4,HGNC:15979 +GARD:0010054,Orphanet,2725,ORPHA:2725,1,B3GALT6,"[beta-1,3-galactosyltransferase-6, beta3GalT6]","beta-1,3-galactosyltransferase 6",gene with protein product,1p36.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:25149931, PMID:29443383]",615291,ENSG00000176022,,Q96L58,Q96L58,HGNC:17978 +GARD:0010056,Orphanet,79113,ORPHA:79113,1,EFTUD2,"[116 kDa U5 small nuclear ribonucleoprotein component, SNRNP116, Snrp116, Snu114, U5 snRNP specific protein, 116 kD, U5-116KD]",elongation factor Tu GTP binding domain containing 2,gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,"[PMID:22305528, PMID:24999515]",603892,ENSG00000108883,,Q15029,Q15029,HGNC:30858 +GARD:0010057,Orphanet,168454,ORPHA:168454,1,NANS,"[SAS, sialic acid synthase]",N-acetylneuraminate synthase,gene with protein product,9q22.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27213289],605202,ENSG00000095380,,Q9NR45,Q9NR45,HGNC:19237 +GARD:0010072,Orphanet,85182,ORPHA:85182,1,MTAP,"[MSAP, S-methyl-5'-thioadenosine phosphorylase, c86fus]",methylthioadenosine phosphorylase,gene with protein product,9p21.3,Disease-causing germline mutation(s) in,Assessed,,156540,ENSG00000099810,,Q13126,Q13126,HGNC:7413 +GARD:0010082,Orphanet,85179,ORPHA:85179,1,OSTM1,"[CLCN7 accessory beta subunit, GL, HSPC019, grey-lethal]",osteoclastogenesis associated transmembrane protein 1,gene with protein product,6q21,Disease-causing germline mutation(s) in,Assessed,[PMID:23685543],607649,ENSG00000081087,,Q86WC4,Q86WC4,HGNC:21652 +GARD:0010083,Orphanet,79124,ORPHA:79124,1,SP110,,SP110 nuclear body protein,gene with protein product,2q37.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16648851],604457,ENSG00000135899,2778,Q9HB58,,HGNC:5401 +GARD:0010088,Orphanet,77297,ORPHA:77297,1,LPIN2,[KIAA0249],lipin 2,gene with protein product,18p11.31,Disease-causing germline mutation(s) in,Assessed,,605519,ENSG00000101577,1436,Q92539,Q92539,HGNC:14450 +GARD:0010089,Orphanet,2886,ORPHA:2886,1,RBM10,"[DXS8237E, GPATC9, GPATCH9, KIAA0122, S1-1, ZRANB5]",RNA binding motif protein 10,gene with protein product,Xp11.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21910224],300080,ENSG00000182872,,P98175,P98175,HGNC:9896 +GARD:0010091,Orphanet,821,ORPHA:821,3,SETD2,"[FLJ23184, HIF-1, HYPB, KIAA1732, KMT3A]","SET domain containing 2, histone lysine methyltransferase",gene with protein product,3p21.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24852293],612778,ENSG00000181555,2702,Q9BYW2,Q9BYW2,HGNC:18420 +GARD:0010091,Orphanet,821,ORPHA:821,3,APC2,"[APCL, adenomatous polyposis coli like]",APC regulator of WNT signaling pathway 2,gene with protein product,19p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25753423],612034,ENSG00000115266,,O95996,,HGNC:24036 +GARD:0010091,Orphanet,821,ORPHA:821,3,NSD1,"[ARA267, FLJ22263, KMT3B]",nuclear receptor binding SET domain protein 1,gene with protein product,5q35.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301652],606681,ENSG00000165671,2696,Q96L73,Q96L73,HGNC:14234 +GARD:0010092,Orphanet,79230,ORPHA:79230,2,HJV,"[HFE2A, HJV, JH, RGMC, haemojuvelin, hemojuvelin, repulsive guidance molecule c]",hemojuvelin BMP co-receptor,gene with protein product,1q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301349],608374,ENSG00000168509,,Q6ZVN8,Q6ZVN8,HGNC:4887 +GARD:0010092,Orphanet,79230,ORPHA:79230,2,HAMP,"[HEPC, HFE2B, LEAP-1, LEAP1]",hepcidin antimicrobial peptide,gene with protein product,19q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301349],606464,ENSG00000105697,,P81172,,HGNC:15598 +GARD:0010093,Orphanet,225123,ORPHA:225123,1,TFR2,"[HFE3, TFRC2]",transferrin receptor 2,gene with protein product,7q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:26029709],604720,ENSG00000106327,,Q9UP52,Q9UP52,HGNC:11762 +GARD:0010094,Orphanet,139491,ORPHA:139491,1,SLC40A1,"[FPN1, HFE4, IREG1, MTP1, ferroportin 1]",solute carrier family 40 member 1,gene with protein product,2q32.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24714983],604653,ENSG00000138449,1194,Q9NP59,Q9NP59,HGNC:10909 +GARD:0010094,Orphanet,139491,ORPHA:139491,1,SLC40A1,"[FPN1, HFE4, IREG1, MTP1, ferroportin 1]",solute carrier family 40 member 1,gene with protein product,2q32.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24714983],604653,ENSG00000138449,1194,Q9NP59,Q9NP59,HGNC:10909 +GARD:0010095,Orphanet+OMIM,602481,OMIM:602481,1,ATP1A2,"[FHM2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2, sodium/potassium-transporting ATPase subunit alpha-2]",ATPase Na+/K+ transporting subunit alpha 2,gene with protein product,1q23.2,The molecular basis of the disorder is known,Unknown,,182340,ENSG00000018625,objectId:834,P50993,P50993,HGNC:800 +GARD:0010096,Orphanet,523,ORPHA:523,1,FH,[fumarase],fumarate hydratase,gene with protein product,1q43,Disease-causing germline mutation(s) in,Assessed,"[PMID:15937070, PMID:21398687]",136850,ENSG00000091483,,P07954,P07954,HGNC:3700 +GARD:0010099,Orphanet,33573,ORPHA:33573,1,GGT1,"[CD224, D22S672, D22S732]",gamma-glutamyltransferase 1,gene with protein product,22q11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:29483667],612346,ENSG00000100031,,P19440,P19440,HGNC:4250 +GARD:0010104,Orphanet+OMIM,177850,OMIM:177850,1,ABCC6,"[EST349056, MLP1, MRP6, URG7]",ATP binding cassette subfamily C member 6,gene with protein product,16p13.11,The molecular basis of the disorder is known,Unknown,,603234,ENSG00000091262,objectId:784,O95255,O95255,HGNC:57 +GARD:0010106,Orphanet,178389,ORPHA:178389,1,TNFRSF11A,"[CD265, FEO, ODFR, RANK, TRANCE receptor, TRANCE-R, familial expansile osteolysis, osteoclast differentiation factor receptor, receptor activator of nuclear factor kappa B]",TNF receptor superfamily member 11a,gene with protein product,18q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:18606301],603499,ENSG00000141655,1881,Q9Y6Q6,Q9Y6Q6,HGNC:11908 +GARD:0010108,Orphanet+OMIM,608931,OMIM:608931,1,CHRNE,"[ACHRE, acetylcholine receptor, epsilon (muscle), nicotinic]",cholinergic receptor nicotinic epsilon subunit,gene with protein product,17p13.2,The molecular basis of the disorder is known,Unknown,,100725,ENSG00000108556,objectId:477,Q04844,Q04844,HGNC:1966 +GARD:0010109,Orphanet,199,ORPHA:199,6,SMC1A,"[DXS423E, KIAA0178, SB1.8, Smcb]",structural maintenance of chromosomes 1A,gene with protein product,Xp11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:20301283],300040,ENSG00000072501,,Q14683,Q14683,HGNC:11111 +GARD:0010109,Orphanet,199,ORPHA:199,6,SMC3,"[BAM, Bamacan, HCAP, SMC3L1, bamacan, bamacan proteoglycan]",structural maintenance of chromosomes 3,gene with protein product,10q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301283],606062,ENSG00000108055,,Q9UQE7,Q9UQE7,HGNC:2468 +GARD:0010109,Orphanet,199,ORPHA:199,6,NIPBL,"[DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, IDN3, Scc2, sister chromatid cohesion 2 homolog (yeast)]",NIPBL cohesin loading factor,gene with protein product,5p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301283],608667,ENSG00000164190,,Q6KC79,Q6KC79,HGNC:28862 +GARD:0010109,Orphanet,199,ORPHA:199,6,RAD21,"[KIAA0078, SCC1, hHR21, kleisin, sister chromatid cohesion 1]",RAD21 cohesin complex component,gene with protein product,8q24.11,Disease-causing germline mutation(s) in,Assessed,[PMID:22633399],606462,ENSG00000164754,,O60216,O60216,HGNC:9811 +GARD:0010109,Orphanet,199,ORPHA:199,6,BRD4,"[CAP, HUNK1, HUNKI, MCAP, chromosome-associated protein, mitotic chromosome-associated protein]",bromodomain containing 4,gene with protein product,19p13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:29379197],608749,ENSG00000141867,1945,O60885,O60885,HGNC:13575 +GARD:0010109,Orphanet,199,ORPHA:199,6,HDAC8,"[KDAC8, RPD3]",histone deacetylase 8,gene with protein product,Xq13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22885700],300269,ENSG00000147099,2619,Q9BY41,Q9BY41,HGNC:13315 +GARD:0010111,Orphanet+OMIM,161800,OMIM:161800,1,ACTA1,"[NEM3, nemaline myopathy type 3]","actin alpha 1, skeletal muscle",gene with protein product,1q42.13,The molecular basis of the disorder is known,Unknown,,102610,ENSG00000143632,,P68133,P68133,HGNC:129 +GARD:0010116,Orphanet,91132,ORPHA:91132,1,ST14,"[CAP3, HAI, MT-SP1, SNC19, TMPRSS14, channel–activating protein 3, epithin, matriptase]",ST14 transmembrane serine protease matriptase,gene with protein product,11q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17273967],606797,ENSG00000149418,2418,Q9Y5Y6,Q9Y5Y6,HGNC:11344 +GARD:0010118,Orphanet,75382,ORPHA:75382,2,SAG,"[ARRESTIN, RP47, arrestin 1, rod arrestin]",S-antigen visual arrestin,gene with protein product,2q37.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:15295660, PMID:22419846]",181031,ENSG00000130561,,P10523,P10523,HGNC:10521 +GARD:0010118,Orphanet,75382,ORPHA:75382,2,GRK1,"[GPRK1, RK]",G protein-coupled receptor kinase 1,gene with protein product,13q34,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19753316, PMID:9020843]",180381,ENSG00000185974,1465,Q15835,Q15835,HGNC:10013 +GARD:0010121,Orphanet,75858,ORPHA:75858,1,INPP5E,"[CORS1, PPI5PIV, pharbin]",inositol polyphosphate-5-phosphatase E,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19668215],613037,ENSG00000148384,1456,Q9NRR6,Q9NRR6,HGNC:21474 +GARD:0010123,Orphanet,75373,ORPHA:75373,1,DHS6S1,,"DNase1 hypersensitivity, chromosome 6, site 1",Disorder-associated locus,6q16.2,Disease-causing germline mutation(s) in,Assessed,[PMID:30710461],616842,,,,,OMIM:616842 +GARD:0010126,Orphanet,79256,ORPHA:79256,1,GLB1,"[EBP, elastin binding protein]",galactosidase beta 1,gene with protein product,3p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24156116],611458,ENSG00000170266,,P16278,P16278,HGNC:4298 +GARD:0010127,Orphanet,325448,ORPHA:325448,1,LHB,"[CGB4, LSH-B, hLHB, interstitial cell stimulating hormone, beta chain, luteinizing hormone beta subunit, lutropin, beta chain]",luteinizing hormone subunit beta,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,,152780,ENSG00000104826,,P01229,P01229,HGNC:6584 +GARD:0010128,Orphanet,52901,ORPHA:52901,1,FSHB,"[follitropin, beta chain]",follicle stimulating hormone subunit beta,gene with protein product,11p14.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:15705395],136530,ENSG00000131808,,P01225,P01225,HGNC:3964 +GARD:0010129,Orphanet,90674,ORPHA:90674,1,TSHB,[thyrotropin subunit beta],thyroid stimulating hormone subunit beta,gene with protein product,1p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:12930599, PMID:20537182, PMID:22851492]",188540,ENSG00000134200,,P01222,P01222,HGNC:12372 +GARD:0010130,Orphanet,48652,ORPHA:48652,1,SHANK3,"[KIAA1650, PSAP2, SPANK-2, proline rich synapse associated protein 2, prosap2, shank postsynaptic density protein, shank3 postsynaptic density protein]",SH3 and multiple ankyrin repeat domains 3,gene with protein product,22q13.33,Role in the phenotype of,Assessed,[PMID:21841781],606230,ENSG00000251322,,Q9BYB0,Q9BYB0,HGNC:14294 +GARD:0010131,Orphanet,90117,ORPHA:90117,1,TFG,"[FLJ36137, SPG57, TF6]",trafficking from ER to golgi regulator,gene with protein product,3q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22883144],602498,ENSG00000114354,,Q92734,Q92734,HGNC:11758 +GARD:0010132,Orphanet,99953,ORPHA:99953,1,HK1,,hexokinase 1,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19536174],142600,ENSG00000156515,,P19367,P19367,HGNC:4922 +GARD:0010133,Orphanet,139552,ORPHA:139552,1,SIGMAR1,[SR-BP1],sigma non-opioid intracellular receptor 1,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:26078401],601978,ENSG00000147955,2552,Q99720,,HGNC:8157 +GARD:0010138,Orphanet,98805,ORPHA:98805,1,TUBB4A,"[Class IVa beta-tubulin, beta-5, class IVa beta-tubulin]",tubulin beta 4A class IVa,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,,602662,ENSG00000104833,,P04350,P04350,HGNC:20774 +GARD:0010140,Orphanet,97297,ORPHA:97297,1,ASXL1,[KIAA0978],ASXL transcriptional regulator 1,gene with protein product,20q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:21706002],612990,ENSG00000171456,,Q8IXJ9,Q8IXJ9,HGNC:18318 +GARD:0010142,Orphanet,216804,ORPHA:216804,6,COL1A2,"[alpha 2(I)-collagen, alpha-2 collagen type I, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain, type I procollagen]",collagen type I alpha 2 chain,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301472, PMID:21438135]",120160,ENSG00000164692,,P08123,P08123,HGNC:2198 +GARD:0010142,Orphanet,216804,ORPHA:216804,6,COL1A1,[OI4],collagen type I alpha 1 chain,gene with protein product,17q21.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301472, PMID:21438135]",120150,ENSG00000108821,,P02452,P02452,HGNC:2197 +GARD:0010142,Orphanet,216804,ORPHA:216804,6,CRTAP,"[CASP, LEPREL3, P3H5, leprecan-like 3, prolyl 3-hydroxylase family member 5 (non-enzymatic)]",cartilage associated protein,gene with protein product,3p22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21438135],605497,ENSG00000170275,,O75718,O75718,HGNC:2379 +GARD:0010142,Orphanet,216804,ORPHA:216804,6,MESD,"[BOCA, KIAA0081]",mesoderm development LRP chaperone,gene with protein product,15q25.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:31564437, PMID:33596325]",607783,ENSG00000117899,,Q14696,,HGNC:13520 +GARD:0010142,Orphanet,216804,ORPHA:216804,6,P3H1,"[GROS1, LEPRECAN, MGC117314, growth suppressor 1, procollagen-proline 3-dioxygenase]",prolyl 3-hydroxylase 1,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,[PMID:21438135],610339,ENSG00000117385,,Q32P28,Q32P28,HGNC:19316 +GARD:0010142,Orphanet,216804,ORPHA:216804,6,PPIB,"[B, CYP-S1, CYPB, OI9, PPIase, S-cyclophilin, SCYLP, cyclophilin B, peptidyl-prolyl cis-trans isomerase B, rotamase B]",peptidylprolyl isomerase B,gene with protein product,15q22.31,Disease-causing germline mutation(s) in,Assessed,[PMID:21438135],123841,ENSG00000166794,,P23284,P23284,HGNC:9255 +GARD:0010144,Orphanet,166265,ORPHA:166265,1,DSPP,[DMP3],dentin sialophosphoprotein,gene with protein product,4q22.1,Disease-causing germline mutation(s) in,Assessed,,125485,ENSG00000152591,,Q9NZW4,Q9NZW4,HGNC:3054 +GARD:0010145,Orphanet,1713,ORPHA:1713,1,RAI1,"[DKFZP434A139, KIAA1820, MGC12824, SMS]",retinoic acid induced 1,gene with protein product,17p11.2,Role in the phenotype of,Assessed,[PMID:20188345],607642,ENSG00000108557,,Q7Z5J4,Q7Z5J4,HGNC:9834 +GARD:0010147,Orphanet,107,ORPHA:107,3,SIX1,,SIX homeobox 1,gene with protein product,14q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301554],601205,ENSG00000126778,,Q15475,Q15475,HGNC:10887 +GARD:0010147,Orphanet,107,ORPHA:107,3,SIX5,,SIX homeobox 5,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:20301554],600963,ENSG00000177045,,Q8N196,,HGNC:10891 +GARD:0010147,Orphanet,107,ORPHA:107,3,EYA1,,EYA transcriptional coactivator and phosphatase 1,gene with protein product,8q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301554],601653,ENSG00000104313,,Q99502,Q99502,HGNC:3519 +GARD:0010148,Orphanet,52429,ORPHA:52429,2,SIX1,,SIX homeobox 1,gene with protein product,14q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:15141091],601205,ENSG00000126778,,Q15475,Q15475,HGNC:10887 +GARD:0010148,Orphanet,52429,ORPHA:52429,2,EYA1,,EYA transcriptional coactivator and phosphatase 1,gene with protein product,8q13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:23840632, PMID:9359046]",601653,ENSG00000104313,,Q99502,Q99502,HGNC:3519 +GARD:0010151,Orphanet+OMIM,612952,OMIM:612952,1,SAMHD1,"[AGS5, Aicardi-Goutieres syndrome 5, HD domain containing 1, HDDC1, MOP-5, Mg11, SBBI88, monocyte protein 5]",SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1,gene with protein product,20q11.23,The molecular basis of the disorder is known,Unknown,,606754,ENSG00000101347,,Q9Y3Z3,Q9Y3Z3,HGNC:15925 +GARD:0010152,Orphanet+OMIM,610915,OMIM:610915,1,P3H1,"[GROS1, LEPRECAN, MGC117314, growth suppressor 1, procollagen-proline 3-dioxygenase]",prolyl 3-hydroxylase 1,gene with protein product,1p34.2,The molecular basis of the disorder is known,Unknown,,610339,ENSG00000117385,,Q32P28,Q32P28,HGNC:19316 +GARD:0010153,Orphanet,31837,ORPHA:31837,2,EIF2AK4,"[GCN2, KIAA1338]",eukaryotic translation initiation factor 2 alpha kinase 4,gene with protein product,15q15.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24292273],609280,ENSG00000128829,2018,Q9P2K8,,HGNC:19687 +GARD:0010153,Orphanet,31837,ORPHA:31837,2,BMPR2,"[BMPR-II, BMPR3, BRK-3, T-ALK]",bone morphogenetic protein receptor type 2,gene with protein product,2q33.1-q33.2,Candidate gene tested in,Not yet assessed,"[PMID:12446270, PMID:18626305]",600799,ENSG00000204217,1794,Q13873,Q13873,HGNC:1078 +GARD:0010167,Orphanet+OMIM,608091,OMIM:608091,1,TMEM216,"[HSPC244, JBTS2, MGC13379]",transmembrane protein 216,gene with protein product,11q12.2,The molecular basis of the disorder is known,Unknown,,613277,ENSG00000187049,,Q9P0N5,Q9P0N5,HGNC:25018 +GARD:0010168,Orphanet,220493,ORPHA:220493,5,MKS1,"[BBS13, FLJ20345, POC12, POC12 centriolar protein homolog (Chlamydomonas)]",MKS transition zone complex subunit 1,gene with protein product,17q22,Disease-causing germline mutation(s) in,Assessed,[PMID:24886560],609883,ENSG00000011143,,Q9NXB0,Q9NXB0,HGNC:7121 +GARD:0010168,Orphanet,220493,ORPHA:220493,5,CEP120,[FLJ36090],centrosomal protein 120,gene with protein product,5q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27208211],613446,ENSG00000168944,,Q8N960,,HGNC:26690 +GARD:0010168,Orphanet,220493,ORPHA:220493,5,AHI1,"[FLJ20069, JBTS3, Jouberin, ORF1]",Abelson helper integration site 1,gene with protein product,6q23.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301500, PMID:20615230]",608894,ENSG00000135541,,Q8N157,Q8N157,HGNC:21575 +GARD:0010168,Orphanet,220493,ORPHA:220493,5,INPP5E,"[CORS1, PPI5PIV, pharbin]",inositol polyphosphate-5-phosphatase E,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19668216, PMID:20301500, PMID:23386033]",613037,ENSG00000148384,1456,Q9NRR6,Q9NRR6,HGNC:21474 +GARD:0010168,Orphanet,220493,ORPHA:220493,5,CEP41,"[DKFZp762H1311, FLJ22445, JBTS15]",centrosomal protein 41,gene with protein product,7q32.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:20301500, PMID:22246503]",610523,ENSG00000106477,,Q9BYV8,Q9BYV8,HGNC:12370 +GARD:0010169,Orphanet,220497,ORPHA:220497,3,RPGRIP1L,"[CORS3, FTM, JBTS7, KIAA1005, MKS5, Meckel syndrome, type 5, NPHP8, PPP1R134, fantom homolog, protein phosphatase 1, regulatory subunit 134]",RPGRIP1 like,gene with protein product,16q12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301500, PMID:20615230]",610937,ENSG00000103494,,Q68CZ1,Q68CZ1,HGNC:29168 +GARD:0010169,Orphanet,220497,ORPHA:220497,3,NPHP1,"[JBTS4, SLSN1]",nephrocystin 1,gene with protein product,2q13,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301500, PMID:20615230]",607100,ENSG00000144061,,O15259,O15259,HGNC:7905 +GARD:0010169,Orphanet,220497,ORPHA:220497,3,TMEM237,[JBTS14],transmembrane protein 237,gene with protein product,2q33.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301500, PMID:22152675]",614423,ENSG00000155755,,Q96Q45,,HGNC:14432 +GARD:0010184,Orphanet,398088,ORPHA:398088,1,SLC4A1,"[CD233, FR, Froese blood group, RTA1A, SW, Swann blood group, WR, Wright blood group]",solute carrier family 4 member 1 (Diego blood group),gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:16227998],109270,ENSG00000004939,904,P02730,P02730,HGNC:11027 +GARD:0010188,Orphanet+OMIM,300652,OMIM:300652,1,AGSPX,,"Angioma serptiginosum, X-linked",unknown,Xp11.3-q12,The disease phenotype itself was mapped,Unknown,,300652,,,,,GeneID:100188767 +GARD:0010193,Orphanet,86884,ORPHA:86884,1,HAVCR2,"[CD366, FLJ14428, T-cell immunoglobulin mucin family member 3, TIM3, TIMD3, Tim-3]",hepatitis A virus cellular receptor 2,gene with protein product,5q33.3,Disease-causing germline mutation(s) in,Assessed,[PMID:30374066],606652,ENSG00000135077,2940,Q8TDQ0,Q8TDQ0,HGNC:18437 +GARD:0010199,Orphanet,98890,ORPHA:98890,1,OPA2,,optic atrophy 2 (obscure),Disorder-associated locus,Xp11.4-p11.2,Disease-causing germline mutation(s) in,Assessed,,,,,,,HGNC:8141 +GARD:0010200,Orphanet+OMIM,258500,OMIM:258500,1,OPA6,,Optic atrophy 6,unknown,8q21-q22,The disease phenotype itself was mapped,Unknown,,258500,,,,,GeneID:777778 +GARD:0010201,Orphanet+OMIM,610708,OMIM:610708,1,DNM1L,"[DRP1, DVLP, DYMPLE, HDYNIV, VPS1]",dynamin 1 like,gene with protein product,12p11.21,The molecular basis of the disorder is known,Unknown,,603850,ENSG00000087470,,O00429,O00429,HGNC:2973 +GARD:0010202,Orphanet,1001,ORPHA:1001,1,HDAC4,"[HA6116, HD4, HDAC-4, HDAC-A, HDACA, KIAA0288]",histone deacetylase 4,gene with protein product,2q37.3,Role in the phenotype of,Assessed,"[PMID:20691407, PMID:23188045]",605314,ENSG00000068024,2659,P56524,P56524,HGNC:14063 +GARD:0010203,Orphanet,67036,ORPHA:67036,1,OPA3,"[3-methylglutaconic aciduria type III, FLJ22187, MGA3]",outer mitochondrial membrane lipid metabolism regulator OPA3,gene with protein product,19q13.32,Disease-causing germline mutation(s) in,Assessed,[PMID:15342707],606580,ENSG00000125741,,Q9H6K4,,HGNC:8142 +GARD:0010204,Orphanet+OMIM,615983,OMIM:615983,1,BBS5,[DKFZp762I194],Bardet-Biedl syndrome 5,gene with protein product,2q31.1,The molecular basis of the disorder is known,Unknown,,603650,ENSG00000163093,,Q8N3I7,Q8N3I7,HGNC:970 +GARD:0010205,Orphanet+OMIM,605231,OMIM:605231,1,MKKS,,MKKS centrosomal shuttling protein,gene with protein product,20p12.2,The molecular basis of the disorder is known,Unknown,,604896,ENSG00000125863,,Q9NPJ1,Q9NPJ1,HGNC:7108 +GARD:0010206,Orphanet+OMIM,615984,OMIM:615984,1,BBS7,"[BBS2L1, FLJ10715]",Bardet-Biedl syndrome 7,gene with protein product,4q27,The molecular basis of the disorder is known,Unknown,,607590,ENSG00000138686,,Q8IWZ6,Q8IWZ6,HGNC:18758 +GARD:0010207,Orphanet+OMIM,615985,OMIM:615985,1,TTC8,"[BBS8, RP51]",tetratricopeptide repeat domain 8,gene with protein product,14q31.3,The molecular basis of the disorder is known,Unknown,,608132,ENSG00000165533,,Q8TAM2,Q8TAM2,HGNC:20087 +GARD:0010208,Orphanet+OMIM,615986,OMIM:615986,1,BBS9,"[B1, PTHB1, parathyroid hormone responsive B1 gene]",Bardet-Biedl syndrome 9,gene with protein product,7p14.3,The molecular basis of the disorder is known,Unknown,,607968,ENSG00000122507,,Q3SYG4,Q3SYG4,HGNC:30000 +GARD:0010209,Orphanet+OMIM,615987,OMIM:615987,1,BBS10,[FLJ23560],Bardet-Biedl syndrome 10,gene with protein product,12q21.2,The molecular basis of the disorder is known,Unknown,,610148,ENSG00000179941,,Q8TAM1,Q8TAM1,HGNC:26291 +GARD:0010210,Orphanet+OMIM,615988,OMIM:615988,1,TRIM32,"[BBS11, HT2A, TATIP]",tripartite motif containing 32,gene with protein product,9q33.1,The molecular basis of the disorder is known,Unknown,,602290,ENSG00000119401,,Q13049,Q13049,HGNC:16380 +GARD:0010211,Orphanet+OMIM,615989,OMIM:615989,1,BBS12,"[FLJ35630, FLJ41559]",Bardet-Biedl syndrome 12,gene with protein product,4q27,The molecular basis of the disorder is known,Unknown,,610683,ENSG00000181004,,Q6ZW61,Q6ZW61,HGNC:26648 +GARD:0010212,Orphanet+OMIM,269700,OMIM:269700,1,BSCL2,[seipin],"BSCL2 lipid droplet biogenesis associated, seipin",gene with protein product,11q12.3,The molecular basis of the disorder is known,Unknown,,606158,ENSG00000168000,,Q96G97,,HGNC:15832 +GARD:0010213,Orphanet,572361,ORPHA:572361,1,FOXL2,[BPES1],forkhead box L2,gene with protein product,3q22.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:30029625, PMID:31823134]",605597,ENSG00000183770,,P58012,P58012,HGNC:1092 +GARD:0010214,Orphanet,247598,ORPHA:247598,1,SLC25A13,"[ARALAR2, CITRIN, mitochondrial aspartate glutamate carrier 2]",solute carrier family 25 member 13,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301360],603859,ENSG00000004864,1055,Q9UJS0,Q9UJS0,HGNC:10983 +GARD:0010215,Orphanet,247585,ORPHA:247585,1,SLC25A13,"[ARALAR2, CITRIN, mitochondrial aspartate glutamate carrier 2]",solute carrier family 25 member 13,gene with protein product,7q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301360],603859,ENSG00000004864,1055,Q9UJS0,Q9UJS0,HGNC:10983 +GARD:0010216,Orphanet,443162,ORPHA:443162,1,NDE1,"[FLJ20101, NDE, NUDE, nudE]",nudE neurodevelopment protein 1,gene with protein product,16p13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:22526350],609449,ENSG00000072864,,Q9NXR1,Q9NXR1,HGNC:17619 +GARD:0010220,Orphanet,137678,ORPHA:137678,1,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:17726487],120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0010221,Orphanet,93111,ORPHA:93111,1,HNF1B,"[HNF1beta, HNF1ß, LFB3, MODY5, VHNF1, hepatocyte nuclear factor 1 beta]",HNF1 homeobox B,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:21844708, PMID:22498247]",189907,ENSG00000275410,,P35680,P35680,HGNC:11630 +GARD:0010223,Orphanet,79159,ORPHA:79159,1,ACAD8,[isobutyryl-CoA dehydrogenase],acyl-CoA dehydrogenase family member 8,gene with protein product,11q25,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24635911],604773,ENSG00000151498,,Q9UKU7,Q9UKU7,HGNC:87 +GARD:0010225,Orphanet,247709,ORPHA:247709,1,RET,"[CDHF12, CDHR16, PTC, RET receptor tyrosine kinase, RET51, cadherin-related family member 16, rearranged during transfection]",ret proto-oncogene,gene with protein product,10q11.21,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301434, PMID:20833330]",164761,ENSG00000165731,2185,P07949,P07949,HGNC:9967 +GARD:0010226,Orphanet,263508,ORPHA:263508,1,COG1,[KIAA1381],component of oligomeric golgi complex 1,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301507],606973,ENSG00000166685,,Q8WTW3,Q8WTW3,HGNC:6545 +GARD:0010229,Orphanet,266,ORPHA:266,1,MYOT,,myotilin,gene with protein product,5q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],604103,ENSG00000120729,,Q9UBF9,Q9UBF9,HGNC:12399 +GARD:0010230,Orphanet+OMIM,181350,OMIM:181350,1,LMNA,"[HGPS, MADA, mandibuloacral dysplasia type A]",lamin A/C,gene with protein product,1q22,The molecular basis of the disorder is known,Unknown,,150330,ENSG00000160789,,P02545,P02545,HGNC:6636 +GARD:0010237,Orphanet,65284,ORPHA:65284,1,SLC19A3,"[THTR2, thiamine transporter 2]",solute carrier family 19 member 3,gene with protein product,2q36.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24260777],606152,ENSG00000135917,1016,Q9BZV2,Q9BZV2,HGNC:16266 +GARD:0010238,Orphanet,275534,ORPHA:275534,1,MSTN,,myostatin,gene with protein product,2q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301671],601788,ENSG00000138379,,O14793,O14793,HGNC:4223 +GARD:0010239,Orphanet,168569,ORPHA:168569,1,SLC29A3,"[ENT3, FLJ11160]",solute carrier family 29 member 3,gene with protein product,10q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18940313],612373,ENSG00000198246,1119,Q9BZD2,Q9BZD2,HGNC:23096 +GARD:0010241,Orphanet+OMIM,610629,OMIM:610629,1,RPS24,"[S24, eS24]",ribosomal protein S24,gene with protein product,10q22.3,The molecular basis of the disorder is known,Unknown,,602412,ENSG00000138326,,P62847,P62847,HGNC:10411 +GARD:0010244,Orphanet,535453,ORPHA:535453,1,LMF1,"[FLJ12681, FLJ22302, JFP11, TMEM112A]",lipase maturation factor 1,gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:25732519, PMID:29980054]",611761,ENSG00000103227,,Q96S06,Q96S06,HGNC:14154 +GARD:0010280,Orphanet,2345,ORPHA:2345,3,MEOX1,[MOX1],mesenchyme homeobox 1,gene with protein product,17q21.31,Disease-causing germline mutation(s) in,Assessed,[PMID:23290072],600147,ENSG00000005102,,P50221,P50221,HGNC:7013 +GARD:0010280,Orphanet,2345,ORPHA:2345,3,GDF6,"[BMP13, KFS, KFS1]",growth differentiation factor 6,gene with protein product,8q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:18425797],601147,ENSG00000156466,,Q6KF10,,HGNC:4221 +GARD:0010280,Orphanet,2345,ORPHA:2345,3,GDF3,,growth differentiation factor 3,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:19864492],606522,ENSG00000184344,,Q9NR23,,HGNC:4218 +GARD:0010281,Orphanet+OMIM,180500,OMIM:180500,1,PITX2,"[ARP1, Brx1, IGDS, Otlx2, RS]",paired like homeodomain 2,gene with protein product,4q25,The molecular basis of the disorder is known,Unknown,,601542,ENSG00000164093,,Q99697,Q99697,HGNC:9005 +GARD:0010283,Orphanet,35107,ORPHA:35107,1,DHCR24,"[Delta(24)-sterol reductase, KIAA0018, seladin-1]",24-dehydrocholesterol reductase,gene with protein product,1p32.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21671375],606418,ENSG00000116133,,Q15392,Q15392,HGNC:2859 +GARD:0010287,Orphanet,1945,ORPHA:1945,3,GRIN2A,[GluN2A],glutamate ionotropic receptor NMDA type subunit 2A,gene with protein product,16p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23933819],138253,ENSG00000183454,456,Q12879,Q12879,HGNC:4585 +GARD:0010287,Orphanet,1945,ORPHA:1945,3,GABRG2,"[GABA(A) receptor, gamma 2]",gamma-aminobutyric acid type A receptor subunit gamma2,gene with protein product,5q34,Disease-causing germline mutation(s) in,Assessed,[PMID:25726841],137164,ENSG00000113327,414,P18507,P18507,HGNC:4087 +GARD:0010287,Orphanet,1945,ORPHA:1945,3,SRPX2,[SRPUL],sushi repeat containing protein X-linked 2,gene with protein product,Xq22.1,Candidate gene tested in,Not yet assessed,,300642,ENSG00000102359,,O60687,,HGNC:30668 +GARD:0010288,Orphanet,98908,ORPHA:98908,1,PNPLA2,"[ATGL, FP17548, TTS-2.2, desnutrin, iPLA2zeta]",patatin like phospholipase domain containing 2,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:17187067],609059,ENSG00000177666,,Q96AD5,Q96AD5,HGNC:30802 +GARD:0010291,Orphanet,2612,ORPHA:2612,3,KRAS,"[K-Ras4B, KRAS1]","KRAS proto-oncogene, GTPase",gene with protein product,12p12.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:22683711],190070,ENSG00000133703,2824,P01116,P01116,HGNC:6407 +GARD:0010291,Orphanet,2612,ORPHA:2612,3,NRAS,[N-ras],"NRAS proto-oncogene, GTPase",gene with protein product,1p13.2,Candidate gene tested in,Not yet assessed,[PMID:25914220],164790,ENSG00000213281,2823,P01111,P01111,HGNC:7989 +GARD:0010291,Orphanet,2612,ORPHA:2612,3,HRAS,,"HRas proto-oncogene, GTPase",gene with protein product,11p15.5,Disease-causing somatic mutation(s) in,Assessed,[PMID:22683711],190020,ENSG00000174775,2822,P01112,P01112,HGNC:5173 +GARD:0010294,Orphanet,139485,ORPHA:139485,1,COQ8A,"[COQ8, SCAR9, coenzyme Q8 homolog (yeast)]",coenzyme Q8A,gene with protein product,1q42.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301317],606980,ENSG00000163050,1927,Q8NI60,Q8NI60,HGNC:16812 +GARD:0010295,Orphanet,140952,ORPHA:140952,1,CCNQ,"[CycM, cyclin M]",cyclin Q,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:18297069],300708,ENSG00000262919,,Q8N1B3,,HGNC:28434 +GARD:0010296,Orphanet,199318,ORPHA:199318,1,CHRNA7,"[acetylcholine receptor, nicotinic, alpha 7 (neuronal)]",cholinergic receptor nicotinic alpha 7 subunit,gene with protein product,15q13.3,Role in the phenotype of,Assessed,[PMID:22775350],118511,ENSG00000175344,468,P36544,P36544,HGNC:1960 +GARD:0010297,Orphanet,1802,ORPHA:1802,1,TBXAS1,"[CYP5, CYP5A1, THAS, TS, TXAS, TXS, cytochrome P450, family 5, subfamily A, polypeptide 1]",thromboxane A synthase 1,gene with protein product,7q34,Disease-causing germline mutation(s) in,Assessed,[PMID:18264100],274180,ENSG00000059377,1353,P24557,P24557,HGNC:11609 +GARD:0010299,Orphanet,567,ORPHA:567,9,HIRA,"[DGCR1, DiGeorge critical region gene 1, TUP1, histone regulator A]",histone cell cycle regulator,gene with protein product,22q11.21,Role in the phenotype of,Assessed,[PMID:15177686],600237,ENSG00000100084,,P54198,P54198,HGNC:4916 +GARD:0010299,Orphanet,567,ORPHA:567,9,UFD1,,ubiquitin recognition factor in ER associated degradation 1,gene with protein product,22q11.21,Role in the phenotype of,Assessed,,601754,ENSG00000070010,,Q92890,Q92890,HGNC:12520 +GARD:0010299,Orphanet,567,ORPHA:567,9,GP1BB,"[CD42c, GPIbbeta, platelet glycoprotein Ib beta chain]",glycoprotein Ib platelet subunit beta,gene with protein product,22q11.21,Role in the phenotype of,Assessed,,138720,ENSG00000203618,,P13224,P13224,HGNC:4440 +GARD:0010299,Orphanet,567,ORPHA:567,9,ARVCF,,ARVCF delta catenin family member,gene with protein product,22q11.21,Role in the phenotype of,Assessed,,602269,ENSG00000099889,,O00192,,HGNC:728 +GARD:0010299,Orphanet,567,ORPHA:567,9,TBX1,[CATCH22],T-box transcription factor 1,gene with protein product,22q11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:14585638],602054,ENSG00000184058,,O43435,,HGNC:11592 +GARD:0010299,Orphanet,567,ORPHA:567,9,TBX1,[CATCH22],T-box transcription factor 1,gene with protein product,22q11.21,Role in the phenotype of,Assessed,,602054,ENSG00000184058,,O43435,,HGNC:11592 +GARD:0010299,Orphanet,567,ORPHA:567,9,COMT,,catechol-O-methyltransferase,gene with protein product,22q11.21,Role in the phenotype of,Assessed,[PMID:23992923],116790,ENSG00000093010,2472,P21964,P21964,HGNC:2228 +GARD:0010299,Orphanet,567,ORPHA:567,9,SEC24C,[KIAA0079],"SEC24 homolog C, COPII coat complex component",gene with protein product,10q22.2,Modifying germline mutation in,Assessed,[PMID:26608785],607185,ENSG00000176986,,P53992,P53992,HGNC:10705 +GARD:0010299,Orphanet,567,ORPHA:567,9,RREB1,"[HNT, hindsight homolog (drosophila)]",ras responsive element binding protein 1,gene with protein product,6p24.3,Modifying germline mutation in,Assessed,[PMID:26608785],602209,ENSG00000124782,,Q92766,Q92766,HGNC:10449 +GARD:0010299,Orphanet,567,ORPHA:567,9,JMJD1C,"[DKFZp761F0118, FLJ14374, KDM3C, KIAA1380]",jumonji domain containing 1C,gene with protein product,10q21.3,Modifying germline mutation in,Assessed,[PMID:26608785],604503,ENSG00000171988,2663,Q15652,Q15652,HGNC:12313 +GARD:0010301,Orphanet,139455,ORPHA:139455,1,BEST1,"[BEST, BMD, Best disease, RP50]",bestrophin 1,gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18179881],607854,ENSG00000167995,,O76090,O76090,HGNC:12703 +GARD:0010302,Orphanet,139466,ORPHA:139466,1,WNT4,[WNT-4],Wnt family member 4,gene with protein product,1p36.12,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18179883],603490,ENSG00000162552,,P56705,P56705,HGNC:12783 +GARD:0010306,Orphanet,93606,ORPHA:93606,1,AVPR2,"[V2R, nephrogenic diabetes insipidus]",arginine vasopressin receptor 2,gene with protein product,Xq28,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:17229917],300538,ENSG00000126895,368,P30518,P30518,HGNC:897 +GARD:0010311,Orphanet,70592,ORPHA:70592,1,IRAK4,[NY-REN-64],interleukin 1 receptor associated kinase 4,gene with protein product,12q12,Disease-causing germline mutation(s) in,Assessed,,606883,ENSG00000198001,2045,Q9NWZ3,Q9NWZ3,HGNC:17967 +GARD:0010312,Orphanet,85146,ORPHA:85146,1,DES,"[CMD1I, CSM1, CSM2, intermediate filament protein]",desmin,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:17439987],125660,ENSG00000175084,,P17661,P17661,HGNC:2770 +GARD:0010313,Orphanet,437572,ORPHA:437572,1,MYH7,[CMD1S],myosin heavy chain 7,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:17336526],160760,ENSG00000092054,,P12883,P12883,HGNC:7577 +GARD:0010314,Orphanet,431255,ORPHA:431255,1,TRPV4,"[CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2, VROAC, osmosensitive transient receptor potential channel 4]",transient receptor potential cation channel subfamily V member 4,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,[PMID:20037587],605427,ENSG00000111199,510,Q9HBA0,Q9HBA0,HGNC:18083 +GARD:0010316,Orphanet,98905,ORPHA:98905,1,RYR1,"[PPP1R137, RYR, protein phosphatase 1, regulatory subunit 137]",ryanodine receptor 1,gene with protein product,19q13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:12719381, PMID:16380615, PMID:20301467]",180901,ENSG00000196218,747,P21817,P21817,HGNC:10483 +GARD:0010317,Orphanet,280671,ORPHA:280671,1,CHKB,[CHETK],choline kinase beta,gene with protein product,22q13.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:21665002, PMID:22782513]",612395,ENSG00000100288,,Q9Y259,Q9Y259,HGNC:1938 +GARD:0010320,Orphanet+OMIM,608471,OMIM:608471,1,TGFBI,"[BIGH3, CDB1, CDGG1]",transforming growth factor beta induced,gene with protein product,5q31.1,The molecular basis of the disorder is known,Unknown,,601692,ENSG00000120708,,Q15582,Q15582,HGNC:11771 +GARD:0010321,Orphanet,67046,ORPHA:67046,1,AUH,,AU RNA binding methylglutaconyl-CoA hydratase,gene with protein product,9q22.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12434311, PMID:12655555]",600529,ENSG00000148090,,Q13825,Q13825,HGNC:890 +GARD:0010322,Orphanet,79157,ORPHA:79157,1,ACADSB,"[ACAD7, SBCAD]",acyl-CoA dehydrogenase short/branched chain,gene with protein product,10q26.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20547083],600301,ENSG00000196177,,P45954,P45954,HGNC:91 +GARD:0010323,Orphanet,35704,ORPHA:35704,1,GATM,"[AGAT, L-arginine:glycine amidinotransferase]",glycine amidinotransferase,gene with protein product,15q21.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301745],602360,ENSG00000171766,1246,P50440,P50440,HGNC:4175 +GARD:0010324,Orphanet,79253,ORPHA:79253,1,PAH,"[PH, phenylalanine 4-monooxygenase]",phenylalanine hydroxylase,gene with protein product,12q23.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301677],612349,ENSG00000171759,1240,P00439,P00439,HGNC:8582 +GARD:0010327,Orphanet,431361,ORPHA:431361,1,NADK2,"[FLJ30596, MNADK, mitochondrial NAD kinase]","NAD kinase 2, mitochondrial",gene with protein product,5p13.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24847004],615787,ENSG00000152620,,Q4G0N4,Q4G0N4,HGNC:26404 +GARD:0010332,Orphanet,69723,ORPHA:69723,1,HPD,"[4-HPPD, 4HPPD, GLOD3, glyoxalase domain containing 3]",4-hydroxyphenylpyruvate dioxygenase,gene with protein product,12q24.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:10942115],609695,ENSG00000158104,2621,P32754,P32754,HGNC:5147 +GARD:0010333,Orphanet,251359,ORPHA:251359,1,HBB,"[CD113t-C, beta-globin]",hemoglobin subunit beta,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,[PMID:20301551],141900,ENSG00000244734,,P68871,P68871,HGNC:4827 +GARD:0010339,Orphanet,331206,ORPHA:331206,2,RAG2,,recombination activating 2,gene with protein product,11p12,Disease-causing germline mutation(s) in,Assessed,[PMID:8810255],179616,ENSG00000175097,,P55895,P55895,HGNC:9832 +GARD:0010339,Orphanet,331206,ORPHA:331206,2,RAG1,"[MGC43321, RING finger protein 74, RNF74, V(D)J recombination-activating protein 1, recombination activating protein 1]",recombination activating 1,gene with protein product,11p12,Disease-causing germline mutation(s) in,Assessed,[PMID:8810255],179615,ENSG00000166349,,P15918,P15918,HGNC:9831 +GARD:0010341,Orphanet,83473,ORPHA:83473,3,CCND2,[G1/S-specific cyclin D2],cyclin D2,gene with protein product,12p13.32,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:24705253],123833,ENSG00000118971,,P30279,P30279,HGNC:1583 +GARD:0010341,Orphanet,83473,ORPHA:83473,3,PIK3R2,"[P85B, p85, phosphoinositide-3-kinase regulatory subunit beta]",phosphoinositide-3-kinase regulatory subunit 2,gene with protein product,19p13.11,Disease-causing somatic mutation(s) in,Assessed,[PMID:26520804],603157,ENSG00000105647,2504,O00459,O00459,HGNC:8980 +GARD:0010341,Orphanet,83473,ORPHA:83473,3,PIK3R2,"[P85B, p85, phosphoinositide-3-kinase regulatory subunit beta]",phosphoinositide-3-kinase regulatory subunit 2,gene with protein product,19p13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:22729224],603157,ENSG00000105647,2504,O00459,O00459,HGNC:8980 +GARD:0010341,Orphanet,83473,ORPHA:83473,3,AKT3,"[PKBG, PRKBG, RAC-gamma, protein kinase B, gamma]",AKT serine/threonine kinase 3,gene with protein product,1q43-q44,Disease-causing germline mutation(s) in,Assessed,[PMID:22729224],611223,ENSG00000117020,2286,Q9Y243,Q9Y243,HGNC:393 +GARD:0010351,Orphanet,98758,ORPHA:98758,1,CACNA1A,"[APCA, Cav2.1, EA2, FHM, HPCA]",calcium voltage-gated channel subunit alpha1 A,gene with protein product,19p13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301317],601011,ENSG00000141837,532,O00555,O00555,HGNC:1388 +GARD:0010352,Orphanet,71290,ORPHA:71290,3,ETV6,"[TEL, TEL oncogene]",ETS variant transcription factor 6,gene with protein product,12p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:27365488],600618,ENSG00000139083,,P41212,P41212,HGNC:3495 +GARD:0010352,Orphanet,71290,ORPHA:71290,3,ANKRD26,[KIAA1074],ankyrin repeat domain containing 26,gene with protein product,10p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:28109976],610855,ENSG00000107890,,Q9UPS8,,HGNC:29186 +GARD:0010352,Orphanet,71290,ORPHA:71290,3,RUNX1,"[AMLCR1, PEBP2A2, aml1 oncogene]",RUNX family transcription factor 1,gene with protein product,21q22.12,Disease-causing germline mutation(s) in,Assessed,[PMID:30600763],151385,ENSG00000159216,,Q01196,Q01196,HGNC:10471 +GARD:0010358,Orphanet,166108,ORPHA:166108,1,KCNK9,"[K2p9.1, TASK-3, TASK3, TWIK-related acid-sensitive K+ 3]",potassium two pore domain channel subfamily K member 9,gene with protein product,8q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18678320],605874,ENSG00000169427,520,Q9NPC2,Q9NPC2,HGNC:6283 +GARD:0010361,Orphanet+OMIM,611875,OMIM:611875,1,CACNA1C,"[CACH2, CACN2, Cav1.2, LQT8, TS]",calcium voltage-gated channel subunit alpha1 C,gene with protein product,12p13.33,The molecular basis of the disorder is known,Unknown,,114205,ENSG00000151067,objectId:529,Q13936,Q13936,HGNC:1390 +GARD:0010362,Orphanet+OMIM,611876,OMIM:611876,1,CACNB2,,calcium voltage-gated channel auxiliary subunit beta 2,gene with protein product,10p12.33-p12.31,The molecular basis of the disorder is known,Unknown,,600003,ENSG00000165995,,Q08289,Q08289,HGNC:1402 +GARD:0010364,Orphanet+OMIM,612347,OMIM:612347,1,KCNE1,"[IsK, JLNS2, Jervell and Lange-Nielsen syndrome 2, LQT5, Long QT syndrome 5, minK]",potassium voltage-gated channel subfamily E regulatory subunit 1,gene with protein product,21q22.12,The molecular basis of the disorder is known,Unknown,,176261,ENSG00000180509,,P15382,P15382,HGNC:6240 +GARD:0010365,Orphanet,70594,ORPHA:70594,1,SPR,"[SDR38C1, Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming), short chain dehydrogenase/reductase family 38C, member 1]",sepiapterin reductase,gene with protein product,2p13.2,Disease-causing germline mutation(s) in,Assessed,,182125,ENSG00000116096,3020,P35270,P35270,HGNC:11257 +GARD:0010366,Orphanet,3339,ORPHA:3339,1,KRAS,"[K-Ras4B, KRAS1]","KRAS proto-oncogene, GTPase",gene with protein product,12p12.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:25808193],190070,ENSG00000133703,2824,P01116,P01116,HGNC:6407 +GARD:0010372,Orphanet,103909,ORPHA:103909,1,TREH,"[MGC129621, TRE, TREA, alpha,alpha-trehalase, alpha,alpha-trehalose glucohydrolase]",trehalase,gene with protein product,11q23.3,Disease-causing germline mutation(s) in,Not yet assessed,,275360,ENSG00000118094,,O43280,O43280,HGNC:12266 +GARD:0010373,Orphanet+OMIM,612099,OMIM:612099,1,MFT2,[TEM],"Trichoepithelioma, multiple familial, 2",unknown,9p21,The disease phenotype itself was mapped,Unknown,,612099,,,,,GeneID:100188881 +GARD:0010376,Orphanet+OMIM,600105,OMIM:600105,1,CRB1,[LCA8],crumbs cell polarity complex component 1,gene with protein product,1q31.3,The molecular basis of the disorder is known,Unknown,,604210,ENSG00000134376,,P82279,,HGNC:2343 +GARD:0010377,Orphanet+OMIM,312612,OMIM:312612,1,RP6,,"Retinitis pigmentosa-6, X-linked recessive",unknown,Xp21.3-p21.2,The disease phenotype itself was mapped,Unknown,,312612,,,,,GeneID:6104 +GARD:0010378,Orphanet+OMIM,612165,OMIM:612165,1,RP29,,Retinitis pigmentosa 29,unknown,4q32-q34,The disease phenotype itself was mapped,Unknown,,612165,,,,,GeneID:54110 +GARD:0010379,Orphanet+OMIM,612095,OMIM:612095,1,PROM1,"[AC133, CD133, CORD12, RP41]",prominin 1,gene with protein product,4p15.32,The molecular basis of the disorder is known,Unknown,,604365,ENSG00000007062,,O43490,,HGNC:9454 +GARD:0010380,Orphanet+OMIM,312600,OMIM:312600,1,RP2,"[NM23-H10, NME10, TBCCD2]",RP2 activator of ARL3 GTPase,gene with protein product,Xp11.3,The molecular basis of the disorder is known,Unknown,,300757,ENSG00000102218,,O75695,O75695,HGNC:10274 +GARD:0010381,Orphanet+OMIM,300029,OMIM:300029,1,RPGR,[CORDX1],retinitis pigmentosa GTPase regulator,gene with protein product,Xp11.4,The molecular basis of the disorder is known,Unknown,,312610,ENSG00000156313,,Q92834,,HGNC:10295 +GARD:0010382,Orphanet+OMIM,180104,OMIM:180104,1,RP9,"[PAP-1, Pim-1 kinase associated protein]",RP9 pre-mRNA splicing factor,gene with protein product,7p14.3,The molecular basis of the disorder is known,Unknown,,607331,ENSG00000164610,,Q8TA86,,HGNC:10288 +GARD:0010383,Orphanet+OMIM,600138,OMIM:600138,1,PRPF31,"[NY-BR-99, PRP31, SNRNP61, U4/U6 small nuclear ribonucleoprotein Prp31, hPrp31]",pre-mRNA processing factor 31,gene with protein product,19q13.42,The molecular basis of the disorder is known,Unknown,,606419,ENSG00000105618,,Q8WWY3,Q8WWY3,HGNC:15446 +GARD:0010384,Orphanet+OMIM,602772,OMIM:602772,1,EYS,"[SPAM, bA166P24.2, bA307F22.3, bA74E24.1, dJ1018A4.2, dJ303F19.1]",eyes shut homolog,gene with protein product,6q12,The molecular basis of the disorder is known,Unknown,,612424,ENSG00000188107,,Q5T1H1,,HGNC:21555 +GARD:0010385,Orphanet+OMIM,600132,OMIM:600132,1,TULP1,"[LCA15, TUBL1]",TUB like protein 1,gene with protein product,6p21.31,The molecular basis of the disorder is known,Unknown,,602280,ENSG00000112041,,O00294,,HGNC:12423 +GARD:0010386,Orphanet+OMIM,608133,OMIM:608133,2,PRPH2,"[CACD2, TSPAN22, central areolar 2, choroidal dystrophy, rd2, retinal peripherin, tetraspanin-22]",peripherin 2,gene with protein product,6p21.1,The molecular basis of the disorder is known,Unknown,,179605,ENSG00000112619,,P23942,,HGNC:9942 +GARD:0010386,Orphanet+OMIM,608133,OMIM:608133,2,ROM1,"[ROM, TSPAN23]",retinal outer segment membrane protein 1,gene with protein product,11q12.3,The molecular basis of the disorder is known,Unknown,,180721,ENSG00000149489,,Q03395,,HGNC:10254 +GARD:0010387,Orphanet+OMIM,600852,OMIM:600852,1,RP17,,Retinitis pigmentosa 17,,17q23.2,The disorder is a chromosome deletion or duplication syndrome,Unknown,,600852,,,,,OMIM:600852 +GARD:0010388,Orphanet+OMIM,600059,OMIM:600059,1,PRPF8,"[PRPC8, Prp8, SNRNP220, hPrp8]",pre-mRNA processing factor 8,gene with protein product,17p13.3,The molecular basis of the disorder is known,Unknown,,607300,ENSG00000174231,,Q6P2Q9,Q6P2Q9,HGNC:17340 +GARD:0010389,Orphanet+OMIM,300155,OMIM:300155,1,RP24,,Retinitis pigmentosa-24,unknown,Xq26-q27,The disease phenotype itself was mapped,Unknown,,300155,,,,,GeneID:6116 +GARD:0010390,Orphanet+OMIM,300605,OMIM:300605,1,RP34,,Retinitis pigmentosa 34,unknown,Xq28,The disease phenotype itself was mapped,Unknown,,300605,,,,,GeneID:777642 +GARD:0010391,Orphanet+OMIM,300424,OMIM:300424,1,OFD1,"[71-7A, JBTS10, Joubert syndrome type 10]",OFD1 centriole and centriolar satellite protein,gene with protein product,Xp22.2,The molecular basis of the disorder is known,Unknown,,300170,ENSG00000046651,,O75665,O75665,HGNC:2567 +GARD:0010392,Orphanet+OMIM,601414,OMIM:601414,1,PRPF3,"[Prp3, SNRNP90, hPrp3]",pre-mRNA processing factor 3,gene with protein product,1q21.2,The molecular basis of the disorder is known,Unknown,,607301,ENSG00000117360,,O43395,O43395,HGNC:17348 +GARD:0010393,Orphanet+OMIM,602594,OMIM:602594,1,RP22,,Retinitis pigmentosa-22,unknown,16p12.3-p12.1,The disease phenotype itself was mapped,Unknown,,602594,,,,,GeneID:6114 +GARD:0010394,Orphanet+OMIM,606068,OMIM:606068,1,FAM161A,[FLJ13305],FAM161 centrosomal protein A,gene with protein product,2p15,The molecular basis of the disorder is known,Unknown,,613596,ENSG00000170264,,Q3B820,,HGNC:25808 +GARD:0010395,Orphanet+OMIM,609913,OMIM:609913,1,CLCC1,"[MCLC, Mid1-related chloride channel (yeast)]",chloride channel CLIC like 1,gene with protein product,1p13.3,The molecular basis of the disorder is known,Unknown,,617539,ENSG00000121940,,Q96S66,,HGNC:29675 +GARD:0010396,Orphanet+OMIM,609923,OMIM:609923,1,TOPORS,"[LUN, TP53BPL]","TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase",gene with protein product,9p21.1,The molecular basis of the disorder is known,Unknown,,609507,ENSG00000197579,,Q9NS56,Q9NS56,HGNC:21653 +GARD:0010397,Orphanet+OMIM,608380,OMIM:608380,1,CERKL,,ceramide kinase like,gene with protein product,2q31.3,The molecular basis of the disorder is known,Unknown,,608381,ENSG00000188452,,Q49MI3,,HGNC:21699 +GARD:0010398,Orphanet+OMIM,601718,OMIM:601718,1,ABCA4,"[ARMD2, CORD3, FFM, Stargardt disease]",ATP binding cassette subfamily A member 4,gene with protein product,1p22.1,The molecular basis of the disorder is known,Unknown,,601691,ENSG00000198691,objectId:759,P78363,P78363,HGNC:34 +GARD:0010400,Orphanet+OMIM,610359,OMIM:610359,1,SNRNP200,"[200 KD, BRR2, HELIC2, KIAA0788, U5 snRNP specific protein, U5-200KD, bad response to refrigeration 2 homolog (S. cerevisiae)]",small nuclear ribonucleoprotein U5 subunit 200,gene with protein product,2q11.2,The molecular basis of the disorder is known,Unknown,,601664,ENSG00000144028,,O75643,O75643,HGNC:30859 +GARD:0010401,Orphanet+OMIM,607921,OMIM:607921,1,FSCN2,"[RFSN, RP30, retinal fascin]","fascin actin-bundling protein 2, retinal",gene with protein product,17q25.3,The molecular basis of the disorder is known,Unknown,,607643,ENSG00000186765,,O14926,O14926,HGNC:3960 +GARD:0010402,Orphanet+OMIM,610282,OMIM:610282,1,SEMA4A,"[CORD10, FLJ12287, SemB]",semaphorin 4A,gene with protein product,1q22,The molecular basis of the disorder is known,Unknown,,607292,ENSG00000196189,,Q9H3S1,Q9H3S1,HGNC:10729 +GARD:0010403,Orphanet+OMIM,610599,OMIM:610599,1,PRCD,[RP36],photoreceptor disc component,gene with protein product,17q25.1,The molecular basis of the disorder is known,Unknown,,610598,ENSG00000214140,,Q00LT1,,HGNC:32528 +GARD:0010404,Orphanet+OMIM,613794,OMIM:613794,1,RPE65,"[BCO family, BCO3, LCA2, all-trans-retinyl-palmitate hydrolase, member 3, rd12, retinol isomerase]",retinoid isomerohydrolase RPE65,gene with protein product,1p31.3,The molecular basis of the disorder is known,Unknown,,180069,ENSG00000116745,,Q16518,Q16518,HGNC:10294 +GARD:0010405,Orphanet+OMIM,613731,OMIM:613731,1,RHO,"[CSNBAD1, OPN2, opsin 2, rod pigment]",rhodopsin,gene with protein product,3q22.1,The molecular basis of the disorder is known,Unknown,,180380,ENSG00000163914,objectId:2963,P08100,P08100,HGNC:10012 +GARD:0010411,Orphanet,370396,ORPHA:370396,1,SMARCA4,"[ATP-dependent helicase SMARCA4, BAF190, BRG1, BRM/SWI2-related gene 1, FLJ39786, SNF2, SNF2-BETA, SNF2-like 4, SNF2LB, SWI2, brahma protein-like 1, global transcription activator homologous sequence, hSNF2b, homeotic gene regulator, mitotic growth and transcription activator, nuclear protein GRB1, sucrose nonfermenting-like 4]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4",gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:24658001, PMID:24658002, PMID:24658004]",603254,ENSG00000127616,2740,P51532,P51532,HGNC:11100 +GARD:0010413,Orphanet,730,ORPHA:730,7,PKD1,"[PBP, Pc-1, TRPP1, polycystin 1, transient receptor potential cation channel, subfamily P, member 1]","polycystin 1, transient receptor potential channel interacting",gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301424],601313,ENSG00000008710,,P98161,P98161,HGNC:9008 +GARD:0010413,Orphanet,730,ORPHA:730,7,GANAB,"[G2AN, GIIA, GluII, KIAA0088, neutral alpha-glucosidase AB]",glucosidase II alpha subunit,gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27259053],104160,ENSG00000089597,,Q14697,Q14697,HGNC:4138 +GARD:0010413,Orphanet,730,ORPHA:730,7,PKD2,"[PC2, PKD4, Pc-2, TRPP2, transient receptor potential cation channel, subfamily P, member 2]","polycystin 2, transient receptor potential cation channel",gene with protein product,4q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301424],173910,ENSG00000118762,504,Q13563,Q13563,HGNC:9009 +GARD:0010413,Orphanet,730,ORPHA:730,7,IFT140,"[KIAA0590, gs114]",intraflagellar transport 140,gene with protein product,16p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:34890546],614620,ENSG00000187535,,Q96RY7,Q96RY7,HGNC:29077 +GARD:0010413,Orphanet,730,ORPHA:730,7,ALG9,"[dol-P-Man dependent alpha-1,2-mannosyltransferase, dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase, dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase]","ALG9 alpha-1,2-mannosyltransferase",gene with protein product,11q23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31395617],606941,ENSG00000086848,,Q9H6U8,Q9H6U8,HGNC:15672 +GARD:0010413,Orphanet,730,ORPHA:730,7,DNAJB11,"[EDJ, ERdj3, HEDJ]",DnaJ heat shock protein family (Hsp40) member B11,gene with protein product,3q27.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29706351],611341,ENSG00000090520,,Q9UBS4,Q9UBS4,HGNC:14889 +GARD:0010413,Orphanet,730,ORPHA:730,7,BICC1,,BicC family RNA binding protein 1,gene with protein product,10q21.1,Candidate gene tested in,Not yet assessed,[PMID:21922595],614295,ENSG00000122870,,Q9H694,,HGNC:19351 +GARD:0010416,Orphanet,391665,ORPHA:391665,6,PCSK9,"[FH3, NARC-1]",proprotein convertase subtilisin/kexin type 9,gene with protein product,1p32.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24404629],607786,ENSG00000169174,2388,Q8NBP7,Q8NBP7,HGNC:20001 +GARD:0010416,Orphanet,391665,ORPHA:391665,6,LDLR,"[LDLCQ2, familial hypercholesterolemia]",low density lipoprotein receptor,gene with protein product,19p13.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24404629],606945,ENSG00000130164,,P01130,P01130,HGNC:6547 +GARD:0010416,Orphanet,391665,ORPHA:391665,6,APOB,,apolipoprotein B,gene with protein product,2p24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:24404629],107730,ENSG00000084674,,P04114,P04114,HGNC:603 +GARD:0010416,Orphanet,391665,ORPHA:391665,6,LDLRAP1,"[ARH, ARH2, DKFZp586D0624, FHCB1, FHCB2, MGC34705, autosomal recessive hypercholesterolemia]",low density lipoprotein receptor adaptor protein 1,gene with protein product,1p36.11,Disease-causing germline mutation(s) in,Assessed,[PMID:11326085],605747,ENSG00000157978,,Q5SW96,Q5SW96,HGNC:18640 +GARD:0010416,Orphanet,391665,ORPHA:391665,6,ABCG8,"[GBD4, gallbladder disease 4, sterolin 2]",ATP binding cassette subfamily G member 8,gene with protein product,2p21,Candidate gene tested in,Not yet assessed,[PMID:20172523],605460,ENSG00000143921,795,Q9H221,Q9H221,HGNC:13887 +GARD:0010416,Orphanet,391665,ORPHA:391665,6,ABCG5,"[STSL, sterolin 1]",ATP binding cassette subfamily G member 5,gene with protein product,2p21,Candidate gene tested in,Not yet assessed,[PMID:20172523],605459,ENSG00000138075,794,Q9H222,Q9H222,HGNC:13886 +GARD:0010417,Orphanet,465508,ORPHA:465508,1,HFE,"[HFE1, HLA-H, high Fe]",homeostatic iron regulator,gene with protein product,6p22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301613],613609,ENSG00000010704,,Q30201,Q30201,HGNC:4886 +GARD:0010424,Orphanet,199354,ORPHA:199354,1,HTRA1,"[ARMD7, HtrA, IGFBP5-protease]",HtrA serine peptidase 1,gene with protein product,10q26.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:19387015, PMID:20437615, PMID:21115960, PMID:21482952, PMID:22900900]",602194,ENSG00000166033,3194,Q92743,Q92743,HGNC:9476 +GARD:0010427,Orphanet,181,ORPHA:181,2,EDA2R,"[EDA-A2R, EDAA2R, TNFRSF27, XEDAR]",ectodysplasin A2 receptor,gene with protein product,Xq12,Disease-causing germline mutation(s) in,Assessed,[PMID:22889853],300276,ENSG00000131080,1896,Q9HAV5,Q9HAV5,HGNC:17756 +GARD:0010427,Orphanet,181,ORPHA:181,2,EDA,"[ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, HED, XHED, XLHED]",ectodysplasin A,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,,300451,ENSG00000158813,,Q92838,Q92838,HGNC:3157 +GARD:0010429,Orphanet,93304,ORPHA:93304,1,TRPV4,"[CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2, VROAC, osmosensitive transient receptor potential channel 4]",transient receptor potential cation channel subfamily V member 4,gene with protein product,12q24.11,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:18587396, PMID:24830047]",605427,ENSG00000111199,510,Q9HBA0,Q9HBA0,HGNC:18083 +GARD:0010430,Orphanet,33069,ORPHA:33069,7,SCN2A,"[HBSCI, HBSCII, Nav1.2]",sodium voltage-gated channel alpha subunit 2,gene with protein product,2q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19783390],182390,ENSG00000136531,579,Q99250,Q99250,HGNC:10588 +GARD:0010430,Orphanet,33069,ORPHA:33069,7,SCN1A,"[GEFSP2, HBSCI, NAC1, Nav1.1, SMEI]",sodium voltage-gated channel alpha subunit 1,gene with protein product,2q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:11359211, PMID:12754708, PMID:16458823, PMID:20301494, PMID:21463275, PMID:22787626, PMID:23093055]",182389,ENSG00000144285,578,P35498,P35498,HGNC:10585 +GARD:0010430,Orphanet,33069,ORPHA:33069,7,GABRG2,"[GABA(A) receptor, gamma 2]",gamma-aminobutyric acid type A receptor subunit gamma2,gene with protein product,5q34,Disease-causing germline mutation(s) in,Assessed,"[PMID:11748509, PMID:21463275, PMID:22787626, PMID:23093055]",137164,ENSG00000113327,414,P18507,P18507,HGNC:4087 +GARD:0010430,Orphanet,33069,ORPHA:33069,7,SCN1B,,sodium voltage-gated channel beta subunit 1,gene with protein product,19q13.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19710327, PMID:21463275, PMID:22787626, PMID:23093055, PMID:23148524]",600235,ENSG00000105711,,Q07699,Q07699,HGNC:10586 +GARD:0010430,Orphanet,33069,ORPHA:33069,7,SCN9A,"[ETHA, NE-NA, NENA, Nav1.7, PN1]",sodium voltage-gated channel alpha subunit 9,gene with protein product,2q24.3,Candidate gene tested in,Not yet assessed,"[PMID:18755274, PMID:19763161, PMID:21463275, PMID:23895530]",603415,ENSG00000169432,584,Q15858,Q15858,HGNC:10597 +GARD:0010430,Orphanet,33069,ORPHA:33069,7,GABRA1,"[EJM5, GABA(A) receptor, alpha 1]",gamma-aminobutyric acid type A receptor subunit alpha1,gene with protein product,5q34,Disease-causing germline mutation(s) in,Assessed,[PMID:24623842],137160,ENSG00000022355,404,P14867,P14867,HGNC:4075 +GARD:0010430,Orphanet,33069,ORPHA:33069,7,PCDH19,"[EIEE9, KIAA1313]",protocadherin 19,gene with protein product,Xq22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:19214208, PMID:21463275, PMID:22848613, PMID:23093055, PMID:23808377]",300460,ENSG00000165194,,Q8TAB3,,HGNC:14270 +GARD:0010432,Orphanet+OMIM,600919,OMIM:600919,1,ANK2,"[CFAP87, FAP87]",ankyrin 2,gene with protein product,4q25-q26,The molecular basis of the disorder is known,Unknown,,106410,ENSG00000145362,,Q01484,Q01484,HGNC:493 +GARD:0010433,Orphanet+OMIM,613695,OMIM:613695,1,KCNE1,"[IsK, JLNS2, Jervell and Lange-Nielsen syndrome 2, LQT5, Long QT syndrome 5, minK]",potassium voltage-gated channel subfamily E regulatory subunit 1,gene with protein product,21q22.12,The molecular basis of the disorder is known,Unknown,,176261,ENSG00000180509,,P15382,P15382,HGNC:6240 +GARD:0010434,Orphanet+OMIM,613693,OMIM:613693,1,KCNE2,"[LQT6, MiRP1]",potassium voltage-gated channel subfamily E regulatory subunit 2,gene with protein product,21q22.11,The molecular basis of the disorder is known,Unknown,,603796,ENSG00000159197,,Q9Y6J6,Q9Y6J6,HGNC:6242 +GARD:0010435,Orphanet+OMIM,611818,OMIM:611818,1,CAV3,"[LGMD1C, LQT9, M-caveolin, VIP-21, VIP21]",caveolin 3,gene with protein product,3p25.3,The molecular basis of the disorder is known,Unknown,,601253,ENSG00000182533,,P56539,P56539,HGNC:1529 +GARD:0010436,Orphanet+OMIM,611819,OMIM:611819,1,SCN4B,[LQT10],sodium voltage-gated channel beta subunit 4,gene with protein product,11q23.3,The molecular basis of the disorder is known,Unknown,,608256,ENSG00000177098,,Q8IWT1,Q8IWT1,HGNC:10592 +GARD:0010437,Orphanet+OMIM,611820,OMIM:611820,1,AKAP9,"[350kDa, A-kinase anchor protein, A-kinase anchoring protein 450, AKAP120-like protein, AKAP350, AKAP450, AKAP9-BRAF fusion protein, CG-NAP, HYPERION, KIAA0803, LQT11, MU-RMS-40.16A, PPP1R45, PRKA9, YOTIAO, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, protein phosphatase 1, regulatory subunit 45, yotiao]",A-kinase anchoring protein 9,gene with protein product,7q21.2,The molecular basis of the disorder is known,Unknown,,604001,ENSG00000127914,,Q99996,Q99996,HGNC:379 +GARD:0010443,Orphanet,477738,ORPHA:477738,2,HLA-DQB1,"[CELIAC1, IDDM1]","major histocompatibility complex, class II, DQ beta 1",gene with protein product,6p21.32,Biomarker tested in,Not yet assessed,"[PMID:14669136, PMID:8181961]",604305,ENSG00000179344,,P01920,P01920,HGNC:4944 +GARD:0010443,Orphanet,477738,ORPHA:477738,2,HLA-DRB1,,"major histocompatibility complex, class II, DR beta 1",gene with protein product,6p21.32,Biomarker tested in,Not yet assessed,"[PMID:14669136, PMID:8181961]",142857,ENSG00000196126,,P01911,P04229,HGNC:4948 +GARD:0010445,Orphanet,101028,ORPHA:101028,1,TALDO1,,transaldolase 1,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,[PMID:23315216],602063,ENSG00000177156,,P37837,P37837,HGNC:11559 +GARD:0010453,Orphanet,178509,ORPHA:178509,1,DCTN1,[p150 glued homolog (Drosophila)],dynactin subunit 1,gene with protein product,2p13.1,Disease-causing germline mutation(s) in,Assessed,,601143,ENSG00000204843,,Q14203,Q14203,HGNC:2711 +GARD:0010457,Orphanet,99885,ORPHA:99885,6,INS,,insulin,gene with protein product,11p15.5,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301620, PMID:21844708, PMID:22498247, PMID:23107109, PMID:23245869]",176730,ENSG00000254647,,P01308,P01308,HGNC:6081 +GARD:0010457,Orphanet,99885,ORPHA:99885,6,PDX1,"[IDX-1, MODY4, PDX-1, STF-1, somatostatin transcription factor 1]",pancreatic and duodenal homeobox 1,gene with protein product,13q12.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301620, PMID:22498247]",600733,ENSG00000139515,,P52945,P52945,HGNC:6107 +GARD:0010457,Orphanet,99885,ORPHA:99885,6,GCK,"[HK4, hexokinase 4]",glucokinase,gene with protein product,7p13,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301620, PMID:21844708, PMID:22498247]",138079,ENSG00000106633,2798,P35557,P35557,HGNC:4195 +GARD:0010457,Orphanet,99885,ORPHA:99885,6,ABCC8,"[ABC36, HHF1, HI, MRP8, PHHI, SUR1, TNDM2, sulfonylurea receptor (hyperinsulinemia)]",ATP binding cassette subfamily C member 8,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301620, PMID:21844708, PMID:22498247, PMID:24843665]",600509,ENSG00000006071,2594,Q09428,Q09428,HGNC:59 +GARD:0010457,Orphanet,99885,ORPHA:99885,6,KCNJ11,"[ATP-sensitive inward rectifier potassium channel 11, BIR, Kir6.2, beta-cell inward rectifier]",potassium inwardly rectifying channel subfamily J member 11,gene with protein product,11p15.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301620, PMID:21844708, PMID:22498247, PMID:24150202, PMID:24468099]",600937,ENSG00000187486,442,Q14654,Q14654,HGNC:6257 +GARD:0010457,Orphanet,99885,ORPHA:99885,6,STAT3,[APRF],signal transducer and activator of transcription 3,gene with protein product,17q21.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:28073828],102582,ENSG00000168610,2994,P40763,P40763,HGNC:11364 +GARD:0010460,Orphanet,438274,ORPHA:438274,1,GCGR,[GGR],glucagon receptor,gene with protein product,17q25.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:19657311, PMID:25914784]",138033,ENSG00000215644,251,P47871,P47871,HGNC:4192 +GARD:0010469,Orphanet,98759,ORPHA:98759,1,TBP,[TFIID],TATA-box binding protein,gene with protein product,6q27,Disease-causing germline mutation(s) in,Assessed,,600075,ENSG00000112592,,P20226,P20226,HGNC:11588 +GARD:0010471,Orphanet,34514,ORPHA:34514,1,TCAP,"[19 kDa sarcomeric protein, CMD1N, T-cap, TELE, telethonin, teneurin C-terminal associated peptide]",titin-cap,gene with protein product,17q12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301582],604488,ENSG00000173991,,O15273,O15273,HGNC:11610 +GARD:0010472,Orphanet,79314,ORPHA:79314,1,L2HGDH,"[2-hydroxyglutarate dehydrogenase, FLJ12618]",L-2-hydroxyglutarate dehydrogenase,gene with protein product,14q21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20052767],609584,ENSG00000087299,,Q9H9P8,Q9H9P8,HGNC:20499 +GARD:0010474,Orphanet,98761,ORPHA:98761,1,ATXN10,"[E46L, FLJ37990]",ataxin 10,gene with protein product,22q13.31,Disease-causing germline mutation(s) in,Assessed,,611150,ENSG00000130638,,Q9UBB4,Q9UBB4,HGNC:10549 +GARD:0010475,Orphanet,98767,ORPHA:98767,1,TTBK2,[KIAA0847],tau tubulin kinase 2,gene with protein product,15q15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301317],611695,ENSG00000128881,2263,Q6IQ55,Q6IQ55,HGNC:19141 +GARD:0010476,Orphanet,98762,ORPHA:98762,1,PPP2R2B,"[B55beta, PP2A subunit B isoform beta, PR52B, PR55-BETA]",protein phosphatase 2 regulatory subunit Bbeta,gene with protein product,5q32,Disease-causing germline mutation(s) in,Assessed,,604325,ENSG00000156475,,Q00005,Q00005,HGNC:9305 +GARD:0010477,Orphanet,98769,ORPHA:98769,1,ITPR1,"[ACV, IP3R1, Insp3r1, PPP1R94, protein phosphatase 1, regulatory subunit 94]","inositol 1,4,5-trisphosphate receptor type 1",gene with protein product,3p26.1,Disease-causing germline mutation(s) in,Assessed,,147265,ENSG00000150995,743,Q14643,Q14643,HGNC:6180 +GARD:0010480,Orphanet,208513,ORPHA:208513,1,ITPR1,"[ACV, IP3R1, Insp3r1, PPP1R94, protein phosphatase 1, regulatory subunit 94]","inositol 1,4,5-trisphosphate receptor type 1",gene with protein product,3p26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22986007],147265,ENSG00000150995,743,Q14643,Q14643,HGNC:6180 +GARD:0010484,Orphanet,238455,ORPHA:238455,1,SLC6A3,"[DAT, dopamine transporter]",solute carrier family 6 member 3,gene with protein product,5p15.33,Disease-causing germline mutation(s) in,Assessed,,126455,ENSG00000142319,927,Q01959,Q01959,HGNC:11049 +GARD:0010486,Orphanet,54595,ORPHA:54595,2,CTNNB1,"[armadillo, beta-catenin]",catenin beta 1,gene with protein product,3p22.1,Disease-causing somatic mutation(s) in,Assessed,[PMID:24413733],116806,ENSG00000168036,,P35222,P35222,HGNC:2514 +GARD:0010486,Orphanet,54595,ORPHA:54595,2,BRAF,[BRAF1],"B-Raf proto-oncogene, serine/threonine kinase",gene with protein product,7q34,Disease-causing somatic mutation(s) in,Assessed,[PMID:24413733],164757,ENSG00000157764,1943,P15056,P15056,HGNC:1097 +GARD:0010487,Orphanet+OMIM,611755,OMIM:611755,1,CEP290,"[3H11Ag, BBS14, Bardet-Biedl syndrome 14, CT87, FLJ13615, JBTS5, Joubert syndrome 5, KIAA0373, LCA10, MKS4, Meckel syndrome, NPHP6, POC3, POC3 centriolar protein homolog (Chlamydomonas), SLSN6, cancer/testis antigen 87, nephrocystin-6, rd16, type 4]",centrosomal protein 290,gene with protein product,12q21.32,The molecular basis of the disorder is known,Unknown,,610142,ENSG00000198707,,O15078,O15078,HGNC:29021 +GARD:0010488,Orphanet+OMIM,613837,OMIM:613837,1,IMPDH1,"[LCA11, sWSS2608]",inosine monophosphate dehydrogenase 1,gene with protein product,7q32.1,The molecular basis of the disorder is known,Unknown,,146690,ENSG00000106348,objectId:2624,P20839,P20839,HGNC:6052 +GARD:0010489,Orphanet+OMIM,610612,OMIM:610612,1,RD3,[LCA12],RD3 regulator of GUCY2D,gene with protein product,1q32.3,The molecular basis of the disorder is known,Unknown,,180040,ENSG00000198570,,Q7Z3Z2,,HGNC:19689 +GARD:0010490,Orphanet+OMIM,613826,OMIM:613826,1,RPGRIP1,"[CORD13, LCA6, RGI1]",RPGR interacting protein 1,gene with protein product,14q11.2,The molecular basis of the disorder is known,Unknown,,605446,ENSG00000092200,,Q96KN7,,HGNC:13436 +GARD:0010496,Orphanet+OMIM,612577,OMIM:612577,1,FIG4,"[ALS11, CMT4J, SAC3, dJ249I4.1, hSac3]",FIG4 phosphoinositide 5-phosphatase,gene with protein product,6q21,The molecular basis of the disorder is known,Unknown,,609390,ENSG00000112367,,Q92562,Q92562,HGNC:16873 +GARD:0010498,Orphanet+OMIM,611895,OMIM:611895,1,ANG,"[RAA1, RNASE5, ribonuclease A family member 5]",angiogenin,gene with protein product,14q11.2,The molecular basis of the disorder is known,Unknown,,105850,ENSG00000214274,,P03950,P03950,HGNC:483 +GARD:0010499,Orphanet+OMIM,608627,OMIM:608627,1,VAPB,"[ALS8, VAP-B, VAP-C]",VAMP associated protein B and C,gene with protein product,20q13.32,The molecular basis of the disorder is known,Unknown,,605704,ENSG00000124164,,O95292,O95292,HGNC:12649 +GARD:0010500,Orphanet+OMIM,608031,OMIM:608031,1,ALS7,,Amyotrophic lateral sclerosis 7,unknown,20p13,The disease phenotype itself was mapped,Unknown,,608031,,,,,GeneID:406238 +GARD:0010501,Orphanet+OMIM,606640,OMIM:606640,1,ALS3,,Amyotrophic lateral sclerosis 3,unknown,18q21,The disease phenotype itself was mapped,Unknown,,606640,,,,,GeneID:253 +GARD:0010502,Orphanet,357043,ORPHA:357043,1,SETX,"[AOA2, KIAA0625, Sen1]",senataxin,gene with protein product,9q34.13,Disease-causing germline mutation(s) in,Assessed,"[PMID:15106121, PMID:15478096]",608465,ENSG00000107290,,Q7Z333,Q7Z333,HGNC:445 +GARD:0010504,Orphanet,63260,ORPHA:63260,1,DACT1,"[DAPPER, DAPPER1, FRODO, HDPR1, THYEX3]",dishevelled binding antagonist of beta catenin 1,gene with protein product,14q23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22610794],607861,ENSG00000165617,,Q9NYF0,Q9NYF0,HGNC:17748 +GARD:0010508,Orphanet,89938,ORPHA:89938,3,BSND,[BART],barttin CLCNK type accessory subunit beta,gene with protein product,1p32.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23110775],606412,ENSG00000162399,,Q8WZ55,Q8WZ55,HGNC:16512 +GARD:0010508,Orphanet,89938,ORPHA:89938,3,CLCNKA,[hClC-Ka],chloride voltage-gated channel Ka,gene with protein product,1p36.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12920401, PMID:18310267, PMID:18776122]",602024,ENSG00000186510,700,P51800,P51800,HGNC:2026 +GARD:0010508,Orphanet,89938,ORPHA:89938,3,CLCNKB,[hClC-Kb],chloride voltage-gated channel Kb,gene with protein product,1p36.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12920401, PMID:18310267, PMID:18776122]",602023,ENSG00000184908,701,P51801,P51801,HGNC:2027 +GARD:0010509,Orphanet,79087,ORPHA:79087,1,LMNB2,,lamin B2,gene with protein product,19p13.3,Major susceptibility factor in,Assessed,[PMID:16826530],150341,ENSG00000176619,,Q03252,Q03252,HGNC:6638 +GARD:0010510,Orphanet,248111,ORPHA:248111,1,HTT,[IT15],huntingtin,gene with protein product,4p16.3,Disease-causing germline mutation(s) in,Assessed,[PMID:17181545],613004,ENSG00000197386,,P42858,P42858,HGNC:4851 +GARD:0010511,Orphanet+OMIM,136900,OMIM:136900,1,TIMP3,,TIMP metallopeptidase inhibitor 3,gene with protein product,22q12.3,The molecular basis of the disorder is known,Unknown,,188826,ENSG00000100234,ligandId:5311,P35625,P35625,HGNC:11822 +GARD:0010513,Orphanet,171866,ORPHA:171866,1,ACAN,"[CSPGCP, aggrecan proteoglycan]",aggrecan,gene with protein product,15q26.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19110214],155760,ENSG00000157766,,P16112,P16112,HGNC:319 +GARD:0010514,Orphanet,199343,ORPHA:199343,1,KCNJ10,"[Kir1.2, Kir4.1]",potassium inwardly rectifying channel subfamily J member 10,gene with protein product,1q23.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:19289823, PMID:20301317]",602208,ENSG00000177807,438,P78508,P78508,HGNC:6256 +GARD:0010516,Orphanet,210115,ORPHA:210115,1,IL1RN,"[ICIL-1RA, IL-1RN, IL1F3, IL1RA, IRAP, MGC10430, interleukin-1 receptor antagonist protein, intracellular interleukin-1 receptor antagonist]",interleukin 1 receptor antagonist,gene with protein product,2q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19494218],147679,ENSG00000136689,,P18510,P18510,HGNC:6000 +GARD:0010517,Orphanet+OMIM,601499,OMIM:601499,1,RIEG2,[RGS2],"Rieger syndrome, type 2",unknown,13q14,The disease phenotype itself was mapped,Unknown,,601499,,,,,GeneID:6012 +GARD:0010518,Orphanet,2752,ORPHA:2752,1,TMEM231,"[ALYE870, FLJ22167, JBTS20, MKS11, PRO1886]",transmembrane protein 231,gene with protein product,16q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:25869670],614949,ENSG00000205084,,Q9H6L2,,HGNC:37234 +GARD:0010522,Orphanet,330054,ORPHA:330054,1,GFER,"[ALR, ERV1, ERV1 homolog (S. cerevisiae), FAD-linked sulfhydryl oxidase ALR, HERV1, HPO1, HPO2, HSS, hepatic regenerative stimulation substance]","growth factor, augmenter of liver regeneration",gene with protein product,16p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19409522],600924,ENSG00000127554,,P55789,P55789,HGNC:4236 +GARD:0010523,Orphanet,317430,ORPHA:317430,1,STIM1,"[D11S4896E, GOK]",stromal interaction molecule 1,gene with protein product,11p15.4,Disease-causing germline mutation(s) in,Assessed,,605921,ENSG00000167323,,Q13586,Q13586,HGNC:11386 +GARD:0010524,Orphanet,317428,ORPHA:317428,1,ORAI1,"[CRACM1, FLJ14466, calcium release-activated calcium modulator 1]",ORAI calcium release-activated calcium modulator 1,gene with protein product,12q24.31,Disease-causing germline mutation(s) in,Assessed,,610277,ENSG00000276045,2964,Q96D31,Q96D31,HGNC:25896 +GARD:0010525,Orphanet,261183,ORPHA:261183,3,NIPA2,[SLC57A2],NIPA magnesium transporter 2,gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:25689425],608146,ENSG00000140157,3034,Q8N8Q9,Q8N8Q9,HGNC:17044 +GARD:0010525,Orphanet,261183,ORPHA:261183,3,NIPA1,"[MGC35570, SLC57A1]",NIPA magnesium transporter 1,gene with protein product,15q11.2,Role in the phenotype of,Assessed,[PMID:25689425],608145,ENSG00000170113,3033,Q7RTP0,Q7RTP0,HGNC:17043 +GARD:0010525,Orphanet,261183,ORPHA:261183,3,TUBG1,[TUBGCP1],tubulin gamma 1,gene with protein product,17q21.31,Role in the phenotype of,Assessed,[PMID:25689425],191135,ENSG00000131462,,P23258,P23258,HGNC:12417 +GARD:0010533,Orphanet,53351,ORPHA:53351,1,TAF1,"[DYT3/TAF1, KAT4, NSCL2, TAFII250]",TATA-box binding protein associated factor 1,gene with protein product,Xq13.1,Disease-causing germline mutation(s) in,Assessed,,313650,ENSG00000147133,2231,P21675,P21675,HGNC:11535 +GARD:0010536,Orphanet,370103,ORPHA:370103,1,DYT17,,dystonia 17,Disorder-associated locus,20p11.22-q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:18688663],,,,,,HGNC:35416 +GARD:0010537,Orphanet,98807,ORPHA:98807,1,DYT13,,"dystonia 13, torsion",Disorder-associated locus,1p36,Disease-causing germline mutation(s) in,Assessed,[PMID:11261511],,,,,,HGNC:3101 +GARD:0010538,Orphanet,171629,ORPHA:171629,1,FA2H,"[FAAH, FLJ25287, fatty acid hydroxylase]",fatty acid 2-hydroxylase,gene with protein product,16q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20104589],611026,ENSG00000103089,,Q7L5A8,Q7L5A8,HGNC:21197 +GARD:0010539,Orphanet,210571,ORPHA:210571,1,PRKRA,"[DYT16, HSD14, PACT, RAX, protein activator of the interferon-induced protein kinase]",protein activator of interferon induced protein kinase EIF2AK2,gene with protein product,2q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18243799],603424,ENSG00000180228,,O75569,O75569,HGNC:9438 +GARD:0010541,Orphanet,98811,ORPHA:98811,2,PRRT2,"[DKFZp547J199, DSPB3, EKD1, FICCA, FLJ25513, IFITMD1, Interferon induced transmembrane protein domain containing 1, PKC, dispanin subfamily B member 3, interferon induced transmembrane protein domain containing 1]",proline rich transmembrane protein 2,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22209761, PMID:22902309, PMID:23398397]",614386,ENSG00000167371,,Q7Z6L0,,HGNC:30500 +GARD:0010541,Orphanet,98811,ORPHA:98811,2,SLC2A1,"[DYT18, DYT9]",solute carrier family 2 member 1,gene with protein product,1p34.2,Disease-causing germline mutation(s) in,Assessed,,138140,ENSG00000117394,875,P11166,P11166,HGNC:11005 +GARD:0010544,Orphanet+OMIM,601650,OMIM:601650,1,SDHAF2,"[FLJ20487, SDH5]",succinate dehydrogenase complex assembly factor 2,gene with protein product,11q12.2,The molecular basis of the disorder is known,Unknown,,613019,ENSG00000167985,,Q9NX18,,HGNC:26034 +GARD:0010545,Orphanet+OMIM,605373,OMIM:605373,1,SDHC,"[CYB560, cybL, large subunit of cytochrome b, succinate dehydrgenase cytochrome b, succinate dehydrogenase cytochrome b560 subunit]",succinate dehydrogenase complex subunit C,gene with protein product,1q23.3,The molecular basis of the disorder is known,Unknown,,602413,ENSG00000143252,,Q99643,Q99643,HGNC:10682 +GARD:0010546,Orphanet+OMIM,115310,OMIM:115310,1,SDHB,"[iron-sulfur subunit of complex II, succinate dehydrogenase [ubiquinone] iron-sulfur subunit]",succinate dehydrogenase complex iron sulfur subunit B,gene with protein product,1p36.13,The molecular basis of the disorder is known,Unknown,,185470,ENSG00000117118,,P21912,P21912,HGNC:10681 +GARD:0010557,Orphanet,1727,ORPHA:1727,1,TBX1,[CATCH22],T-box transcription factor 1,gene with protein product,22q11.21,Role in the phenotype of,Assessed,[PMID:19254783],602054,ENSG00000184058,,O43435,,HGNC:11592 +GARD:0010560,Orphanet,85445,ORPHA:85445,1,SAA1,"[PIG4, TP53I4]",serum amyloid A1,gene with protein product,11p15.1,Major susceptibility factor in,Assessed,"[PMID:16118480, PMID:16219644, PMID:16874691, PMID:18369528]",104750,ENSG00000173432,,P0DJI8,P0DJI8,HGNC:10513 +GARD:0010570,Orphanet+OMIM,263650,OMIM:263650,1,RIPK4,"[ANKK2, DIK, PKC-delta-interacting protein kinase, PKK, RIP4, protein kinase C-associated kinase]",receptor interacting serine/threonine kinase 4,gene with protein product,21q22.3,The molecular basis of the disorder is known,Unknown,,605706,ENSG00000183421,objectId:2192,P57078,,HGNC:496 +GARD:0010572,Orphanet,85278,ORPHA:85278,1,SLC9A6,"[KIAA0267, NHE6]",solute carrier family 9 member A6,gene with protein product,Xq26.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18342287],300231,ENSG00000198689,953,Q92581,Q92581,HGNC:11079 +GARD:0010574,Orphanet,178333,ORPHA:178333,1,CACNA1F,"[CORDX3, CSNB2A, CSNBX2, Cav1.4, JM8, JMC8, OA2]",calcium voltage-gated channel subunit alpha1 F,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,[PMID:17525176],300110,ENSG00000102001,531,O60840,O60840,HGNC:1393 +GARD:0010578,Orphanet,101089,ORPHA:101089,1,AICDA,"[AID, ARP2, CDA2, HIGM2]",activation induced cytidine deaminase,gene with protein product,12p13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:11007475],605257,ENSG00000111732,,Q9GZX7,Q9GZX7,HGNC:13203 +GARD:0010579,Orphanet,101090,ORPHA:101090,1,CD40,"[Bp50, p50]",CD40 molecule,gene with protein product,20q13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:11675497],109535,ENSG00000101017,1874,P25942,P25942,HGNC:11919 +GARD:0010581,Orphanet,101092,ORPHA:101092,1,UNG,"[HIGM4, UDG, UNG1, UNG2, uracil-DNA glycosylase 1, uracil-DNA glycosylase 2]",uracil DNA glycosylase,gene with protein product,12q24.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:12958596, PMID:15967827]",191525,ENSG00000076248,,P13051,P13051,HGNC:12572 +GARD:0010583,Orphanet,59303,ORPHA:59303,1,CLDN1,"[ILVASC, SEMP1, senescence-associated epithelial membrane protein 1]",claudin 1,gene with protein product,3q28,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:15521008],603718,ENSG00000163347,,O95832,O95832,HGNC:2032 +GARD:0010585,Orphanet,86829,ORPHA:86829,1,CSF3R,[GCSFR],colony stimulating factor 3 receptor,gene with protein product,1p34.3,Disease-causing somatic mutation(s) in,Assessed,[PMID:23656643],138971,ENSG00000119535,1719,Q99062,Q99062,HGNC:2439 +GARD:0010586,Orphanet+OMIM,610168,OMIM:610168,1,TGFBR2,"[TBR-ii, TBRII]",transforming growth factor beta receptor 2,gene with protein product,3p24.1,The molecular basis of the disorder is known,Unknown,,190182,ENSG00000163513,objectId:1795,P37173,P37173,HGNC:11773 +GARD:0010587,Orphanet,99027,ORPHA:99027,1,LMNB1,,lamin B1,gene with protein product,5q23.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:23649844, PMID:24501781]",150340,ENSG00000113368,,P20700,P20700,HGNC:6637 +GARD:0010588,Orphanet+OMIM,614816,OMIM:614816,1,TGFB2,[prepro-transforming growth factor beta-2],transforming growth factor beta 2,gene with protein product,1q41,The molecular basis of the disorder is known,Unknown,,190220,ENSG00000092969,ligandId:5061,P61812,P61812,HGNC:11768 +GARD:0010590,Orphanet,157801,ORPHA:157801,1,BHLHA9,"[BHLHF42, Fingerin, bHLHa9]",basic helix-loop-helix family member a9,gene with protein product,17p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25466284],615416,ENSG00000205899,,Q7RTU4,,HGNC:35126 +GARD:0010593,Orphanet,217371,ORPHA:217371,1,TRMU,"[FLJ10140, MTO2, MTU1, mitochondrial tRNA-specific 2-thiouridylase 1]",tRNA mitochondrial 2-thiouridylase,gene with protein product,22q13.31,Disease-causing germline mutation(s) in,Assessed,[PMID:19732863],610230,ENSG00000100416,,O75648,O75648,HGNC:25481 +GARD:0010594,Orphanet,217382,ORPHA:217382,1,FOLR1,"[FRa, folate receptor alpha]",folate receptor 1,gene with protein product,11q13.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19732866],136430,ENSG00000110195,,P15328,P15328,HGNC:3791 +GARD:0010595,Orphanet,217266,ORPHA:217266,1,FREM1,"[C9orf143, C9orf145, DKFZp686M16108, FLJ25461, TILRR]",FRAS1 related extracellular matrix 1,gene with protein product,9p22.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:19732862, PMID:23401257]",608944,ENSG00000164946,,Q5H8C1,,HGNC:23399 +GARD:0010597,Orphanet,99429,ORPHA:99429,1,AR,"[AIS, HUMARA, Kennedy disease, NR3C4, SMAX1, testicular feminization]",androgen receptor,gene with protein product,Xq12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301602],313700,ENSG00000169083,628,P10275,P10275,HGNC:644 +GARD:0010602,Orphanet,95494,ORPHA:95494,7,PROP1,,PROP paired-like homeobox 1,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:9462743],601538,ENSG00000175325,,O75360,O75360,HGNC:9455 +GARD:0010602,Orphanet,95494,ORPHA:95494,7,HESX1,"[ANF, RPX]",HESX homeobox 1,gene with protein product,3p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:14561704],601802,ENSG00000163666,,Q9UBX0,Q9UBX0,HGNC:4877 +GARD:0010602,Orphanet,95494,ORPHA:95494,7,OTX2,,orthodenticle homeobox 2,gene with protein product,14q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18728160],600037,ENSG00000165588,,P32243,,HGNC:8522 +GARD:0010602,Orphanet,95494,ORPHA:95494,7,FOXA2,,forkhead box A2,gene with protein product,20p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:30414530],600288,ENSG00000125798,,Q9Y261,Q9Y261,HGNC:5022 +GARD:0010602,Orphanet,95494,ORPHA:95494,7,POU1F1,"[GHF-1, PIT-1, POU1F1a, growth hormone factor 1, pituitary transcript factor 1]",POU class 1 homeobox 1,gene with protein product,3p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:15670191],173110,ENSG00000064835,,P28069,,HGNC:9210 +GARD:0010602,Orphanet,95494,ORPHA:95494,7,GLI2,"[HPE9, THP1, THP2, tax helper protein 1, tax helper protein 2, tax-responsive element-2 holding protein]",GLI family zinc finger 2,gene with protein product,2q14.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20685856],165230,ENSG00000074047,,P10070,P10070,HGNC:4318 +GARD:0010602,Orphanet,95494,ORPHA:95494,7,LHX4,[Gsh4],LIM homeobox 4,gene with protein product,1q25.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25871839],602146,ENSG00000121454,,Q969G2,Q969G2,HGNC:21734 +GARD:0010603,Orphanet,231720,ORPHA:231720,1,LHX3,,LIM homeobox 3,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:10835633, PMID:19762173]",600577,ENSG00000107187,,Q9UBR4,,HGNC:6595 +GARD:0010604,Orphanet,85442,ORPHA:85442,1,LHX4,[Gsh4],LIM homeobox 4,gene with protein product,1q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:11567216],602146,ENSG00000121454,,Q969G2,Q969G2,HGNC:21734 +GARD:0010605,Orphanet,63446,ORPHA:63446,1,IHH,"[BDA1, HHG2]",Indian hedgehog signaling molecule,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,[PMID:12632327],600726,ENSG00000163501,,Q14623,Q14623,HGNC:5956 +GARD:0010608,Orphanet,56305,ORPHA:56305,1,FLNB,"[ABP-278, FH1, TABP, TAP, actin binding protein 278, beta filamin]",filamin B,gene with protein product,3p14.3,Disease-causing germline mutation(s) in,Assessed,,603381,ENSG00000136068,,O75369,O75369,HGNC:3755 +GARD:0010609,Orphanet,73273,ORPHA:73273,1,IGF1R,"[CD221, IGFIR, IGFR, JTK13, MGC18216]",insulin like growth factor 1 receptor,gene with protein product,15q26.3,Disease-causing germline mutation(s) in,Assessed,[PMID:14657428],147370,ENSG00000140443,1801,P08069,P08069,HGNC:5465 +GARD:0010611,Orphanet,156728,ORPHA:156728,1,MATN3,"[EDM5, HOA]",matrilin 3,gene with protein product,2p24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:15121775],602109,ENSG00000132031,,O15232,O15232,HGNC:6909 +GARD:0010614,Orphanet,139399,ORPHA:139399,1,ABCD1,"[ALDP, AMN, adrenoleukodystrophy]",ATP binding cassette subfamily D member 1,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301491],300371,ENSG00000101986,788,P33897,P33897,HGNC:61 +GARD:0010615,Orphanet+OMIM,610655,OMIM:610655,1,HHT4,,"Telangiectasia, hereditary hemorrhagic, type 4",unknown,7p14,The disease phenotype itself was mapped,Unknown,,610655,,,,,GeneID:791087 +GARD:0010616,Orphanet,93358,ORPHA:93358,1,DDR2,[TKT],discoidin domain receptor tyrosine kinase 2,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:19110212],191311,ENSG00000162733,1844,Q16832,Q16832,HGNC:2731 +GARD:0010618,Orphanet,93356,ORPHA:93356,1,MMP13,"[CLG3, collagenase 3]",matrix metallopeptidase 13,gene with protein product,11q22.2,Disease-causing germline mutation(s) in,Assessed,,600108,ENSG00000137745,1637,P45452,P45452,HGNC:7159 +GARD:0010619,Orphanet+OMIM,259440,OMIM:259440,1,PPIB,"[B, CYP-S1, CYPB, OI9, PPIase, S-cyclophilin, SCYLP, cyclophilin B, peptidyl-prolyl cis-trans isomerase B, rotamase B]",peptidylprolyl isomerase B,gene with protein product,15q22.31,The molecular basis of the disorder is known,Unknown,,123841,ENSG00000166794,,P23284,P23284,HGNC:9255 +GARD:0010620,Orphanet,178355,ORPHA:178355,2,DYM,"[DMC, FLJ20071, SMC]",dymeclin,gene with protein product,18q21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:12491225, PMID:15464420]",607461,ENSG00000141627,,Q7RTS9,,HGNC:21317 +GARD:0010620,Orphanet,178355,ORPHA:178355,2,RAB33B,[DKFZP434G099],"RAB33B, member RAS oncogene family",gene with protein product,4q31.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22652534],605950,ENSG00000172007,,Q9H082,Q9H082,HGNC:16075 +GARD:0010624,Orphanet,93284,ORPHA:93284,1,TRAPPC2,"[MIP-2A, SEDT, TRS20, ZNF547L, hYP38334]",trafficking protein particle complex subunit 2,gene with protein product,Xp22.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301324],300202,ENSG00000196459,,P0DI81,P0DI81,HGNC:23068 +GARD:0010625,Orphanet+OMIM,613789,OMIM:613789,1,C8B,,complement C8 beta chain,gene with protein product,1p32.2,The molecular basis of the disorder is known,Unknown,,120960,ENSG00000021852,,P07358,P07358,HGNC:1353 +GARD:0010626,Orphanet+OMIM,613790,OMIM:613790,1,C8A,,complement C8 alpha chain,gene with protein product,1p32.2,The molecular basis of the disorder is known,Unknown,,120950,ENSG00000157131,,P07357,P07357,HGNC:1352 +GARD:0010627,Orphanet,73272,ORPHA:73272,1,IGF1,"[IGF, IGF-I, IGF1A, IGFI, somatomedin C]",insulin like growth factor 1,gene with protein product,12q23.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:14684690, PMID:8857020]",147440,ENSG00000017427,,P05019,P05019,HGNC:5464 +GARD:0010630,Orphanet,92050,ORPHA:92050,1,EPCAM,"[17-1A, 323/A3, CD326, CO-17A, EGP-2, EGP34, EGP40, ESA, Ep-CAM, GA733-2, HEA125, KS1/4, KSA, Ly74, MH99, MK-1, MOC31, TACST-1, TROP1, trophoblast cell surface antigen 1]",epithelial cell adhesion molecule,gene with protein product,2p21,Disease-causing germline mutation(s) in,Assessed,[PMID:18572020],185535,ENSG00000119888,,P16422,P16422,HGNC:11529 +GARD:0010637,Orphanet,251663,ORPHA:251663,1,IDH2,,isocitrate dehydrogenase (NADP(+)) 2,gene with protein product,15q26.1,Biomarker tested in,Assessed,"[PMID:19228619, PMID:19554337, PMID:20714900, PMID:21075857, PMID:23109653, PMID:24149775]",147650,ENSG00000182054,2885,P48735,P48735,HGNC:5383 +GARD:0010643,Orphanet,97286,ORPHA:97286,3,SDHC,"[CYB560, cybL, large subunit of cytochrome b, succinate dehydrgenase cytochrome b, succinate dehydrogenase cytochrome b560 subunit]",succinate dehydrogenase complex subunit C,gene with protein product,1q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17667967],602413,ENSG00000143252,,Q99643,Q99643,HGNC:10682 +GARD:0010643,Orphanet,97286,ORPHA:97286,3,SDHB,"[iron-sulfur subunit of complex II, succinate dehydrogenase [ubiquinone] iron-sulfur subunit]",succinate dehydrogenase complex iron sulfur subunit B,gene with protein product,1p36.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17667967],185470,ENSG00000117118,,P21912,P21912,HGNC:10681 +GARD:0010643,Orphanet,97286,ORPHA:97286,3,SDHD,"[cybS, small subunit of cytochrome b]",succinate dehydrogenase complex subunit D,gene with protein product,11q23.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17667967],602690,ENSG00000204370,,O14521,O14521,HGNC:10683 +GARD:0010645,Orphanet,93623,ORPHA:93623,1,OCRL,"[Dent disease 2, Dent-2, OCRL1]",OCRL inositol polyphosphate-5-phosphatase,gene with protein product,Xq26.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22876375],300535,ENSG00000122126,1460,Q01968,Q01968,HGNC:8108 +GARD:0010647,Orphanet,85167,ORPHA:85167,1,PCYT1A,"['phosphate cytidylyltransferase 1, choline, alpha isoform', CCTalpha, CT, CTP:phosphocholine cytidylyltransferase-alpha, CTPCT, choline-phosphate cytidylyltransferase alpha, phosphorylcholine transferase alpha]","phosphate cytidylyltransferase 1A, choline",gene with protein product,3q29,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:24387990, PMID:24387991]",123695,ENSG00000161217,,P49585,P49585,HGNC:8754 +GARD:0010648,Orphanet+OMIM,610024,OMIM:610024,1,PDE6H,[retinal cone rhodopsin-sensitive cGMP 3';5'-cyclic phosphodiesterase subunit gamma],phosphodiesterase 6H,gene with protein product,12p12.3,The molecular basis of the disorder is known,Unknown,,601190,ENSG00000139053,objectId:1317,Q13956,,HGNC:8790 +GARD:0010649,Orphanet,209932,ORPHA:209932,1,KCNV2,[Kv8.2],potassium voltage-gated channel modifier subfamily V member 2,gene with protein product,9p24.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:16909397, PMID:18235024, PMID:18400204]",607604,ENSG00000168263,566,Q8TDN2,Q8TDN2,HGNC:19698 +GARD:0010650,Orphanet+OMIM,610478,OMIM:610478,1,CACNA2D4,[alpha2delta-4],calcium voltage-gated channel auxiliary subunit alpha2delta 4,gene with protein product,12p13.33,The molecular basis of the disorder is known,Unknown,,608171,ENSG00000151062,,Q7Z3S7,,HGNC:20202 +GARD:0010651,Orphanet+OMIM,600624,OMIM:600624,1,CORD1,[CRD1],"Cone rod dystrophy 1, autosomal dominant",unknown,18q21.1-q21.3,The disease phenotype itself was mapped,Unknown,,600624,,,,,GeneID:1319 +GARD:0010652,Orphanet+OMIM,304020,OMIM:304020,1,RPGR,[CORDX1],retinitis pigmentosa GTPase regulator,gene with protein product,Xp11.4,The molecular basis of the disorder is known,Unknown,,312610,ENSG00000156313,,Q92834,,HGNC:10295 +GARD:0010653,Orphanet+OMIM,604116,OMIM:604116,1,ABCA4,"[ARMD2, CORD3, FFM, Stargardt disease]",ATP binding cassette subfamily A member 4,gene with protein product,1p22.1,The molecular basis of the disorder is known,Unknown,,601691,ENSG00000198691,objectId:759,P78363,P78363,HGNC:34 +GARD:0010654,Orphanet+OMIM,300476,OMIM:300476,1,CACNA1F,"[CORDX3, CSNB2A, CSNBX2, Cav1.4, JM8, JMC8, OA2]",calcium voltage-gated channel subunit alpha1 F,gene with protein product,Xp11.23,The molecular basis of the disorder is known,Unknown,,300110,ENSG00000102001,objectId:531,O60840,,HGNC:1393 +GARD:0010655,Orphanet+OMIM,600977,OMIM:600977,1,PITPNM3,"[ACKR6, NIR1, RDGBA3, atypical chemokine receptor 6]",PITPNM family member 3,gene with protein product,17p13.2-p13.1,The molecular basis of the disorder is known,Unknown,,608921,ENSG00000091622,,Q9BZ71,Q9BZ71,HGNC:21043 +GARD:0010656,Orphanet+OMIM,601777,OMIM:601777,1,GUCY2D,"[CYGD, LCA1, RETGC-1, ROS-GC1, retGC, retinal guanylate cyclase 1, rod outer segment membrane guanylate cyclase]","guanylate cyclase 2D, retinal",gene with protein product,17p13.1,The molecular basis of the disorder is known,Unknown,,600179,ENSG00000132518,objectId:2031,Q02846,Q02846,HGNC:4689 +GARD:0010657,Orphanet+OMIM,125851,OMIM:125851,1,GCK,"[HK4, hexokinase 4]",glucokinase,gene with protein product,7p13,The molecular basis of the disorder is known,Unknown,,138079,ENSG00000106633,objectId:2798,P35557,P35557,HGNC:4195 +GARD:0010658,Orphanet+OMIM,600496,OMIM:600496,1,HNF1A,"[HNF1, HNF1α, LFB1]",HNF1 homeobox A,gene with protein product,12q24.31,The molecular basis of the disorder is known,Unknown,,142410,ENSG00000135100,,P20823,P20823,HGNC:11621 +GARD:0010659,Orphanet+OMIM,606392,OMIM:606392,1,PDX1,"[GSF, Glucose-sensitive factor, IDX-1, IUF-1, Islet/duodenum homeobox-1, MODY4, PDX-1, STF-1, insulin upstream factor 1, somatostatin transcription factor 1]",pancreatic and duodenal homeobox 1,gene with protein product,13q12.2,The molecular basis of the disorder is known,Unknown,,600733,ENSG00000139515,,P52945,P52945,HGNC:6107 +GARD:0010660,Orphanet+OMIM,606394,OMIM:606394,1,NEUROD1,"[BETA2, BHF-1, MODY6, NeuroD, bHLHa3, beta-cell E-box transactivator 2, neurogenic helix-loop-helix protein NEUROD]",neuronal differentiation 1,gene with protein product,2q31.3,The molecular basis of the disorder is known,Unknown,,601724,ENSG00000162992,,Q13562,Q13562,HGNC:7762 +GARD:0010661,Orphanet+OMIM,610508,OMIM:610508,1,KLF11,"[FKLF, MODY7, Tieg3]",KLF transcription factor 11,gene with protein product,2p25.1,The molecular basis of the disorder is known,Unknown,,603301,ENSG00000172059,,O14901,,HGNC:11811 +GARD:0010662,Orphanet+OMIM,609812,OMIM:609812,1,CEL,"[BSSL, MODY8, bile salt-stimulated lipase]",carboxyl ester lipase,gene with protein product,9q34.13,The molecular basis of the disorder is known,Unknown,,114840,ENSG00000170835,objectId:2872,P19835,P19835,HGNC:1848 +GARD:0010663,Orphanet+OMIM,612225,OMIM:612225,1,PAX4,[MODY9],paired box 4,gene with protein product,7q32.1,The molecular basis of the disorder is known,Unknown,,167413,ENSG00000106331,,O43316,O43316,HGNC:8618 +GARD:0010667,Orphanet,329466,ORPHA:329466,1,GNAL,,G protein subunit alpha L,gene with protein product,18p11.21,Disease-causing germline mutation(s) in,Assessed,[PMID:23222958],139312,ENSG00000141404,,P38405,P38405,HGNC:4388 +GARD:0010675,Orphanet,85212,ORPHA:85212,1,GBA,"[GBA1, glucocerebrosidase]",glucosylceramidase beta,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301446, PMID:20946052]",606463,ENSG00000177628,2978,P04062,P04062,HGNC:4177 +GARD:0010679,Orphanet,88950,ORPHA:88950,1,UMOD,"[Tamm-Horsfall glycoprotein, uromucoid]",uromodulin,gene with protein product,16p12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301530],191845,ENSG00000169344,,P07911,P07911,HGNC:12559 +GARD:0010680,Orphanet,94089,ORPHA:94089,2,GNAS,"[G protein subunit alpha S, GNASXL, GPSA, NESP, NESP55, SCG6, SgVI, secretogranin VI]",GNAS complex locus,gene with protein product,20q13.32,Disease-causing germline mutation(s) in,Assessed,,139320,ENSG00000087460,,O95467; P63092; P84996; Q5JWF2,P63092,HGNC:4392 +GARD:0010680,Orphanet,94089,ORPHA:94089,2,STX16,"[SYN16, hsyn16]",syntaxin 16,gene with protein product,20q13.32,Disease-causing germline mutation(s) in,Assessed,,603666,ENSG00000124222,,O14662,O14662,HGNC:11431 +GARD:0010681,Orphanet,79444,ORPHA:79444,1,GNAS,"[G protein subunit alpha S, GNASXL, GPSA, NESP, NESP55, SCG6, SgVI, secretogranin VI]",GNAS complex locus,gene with protein product,20q13.32,Disease-causing germline mutation(s) in,Assessed,,139320,ENSG00000087460,,O95467; P63092; P84996; Q5JWF2,P63092,HGNC:4392 +GARD:0010684,Orphanet,35689,ORPHA:35689,1,SPG7,"[CAR, SPG5C, paraplegin]","SPG7 matrix AAA peptidase subunit, paraplegin",gene with protein product,16q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:27123479],602783,ENSG00000197912,,Q9UQ90,Q9UQ90,HGNC:11237 +GARD:0010686,Orphanet,157846,ORPHA:157846,1,FTL,"[L apoferritin, MGC71996, NBIA3, ferritin L subunit, ferritin L-chain, ferritin light polypeptide-like 3, neurodegeneration with brain iron accumulation 3]",ferritin light chain,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:16116125, PMID:23447832]",134790,ENSG00000087086,,P02792,P02792,HGNC:3999 +GARD:0010688,Orphanet+OMIM,610217,OMIM:610217,1,PLA2G6,"[NBIA2, PARK14, PNPLA9, iPLA2, iPLA2beta, neurodegeneration with brain iron accumulation 2]",phospholipase A2 group VI,gene with protein product,22q13.1,The molecular basis of the disorder is known,Unknown,,603604,ENSG00000184381,objectId:1431,O60733,O60733,HGNC:9039 +GARD:0010691,Orphanet+OMIM,617041,OMIM:617041,1,MAFB,,MAF bZIP transcription factor B,gene with protein product,20q12,The molecular basis of the disorder is known,Unknown,,608968,ENSG00000204103,,Q9Y5Q3,Q9Y5Q3,HGNC:6408 +GARD:0010695,Orphanet,99106,ORPHA:99106,1,TLL1,,tolloid like 1,gene with protein product,4q32.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18830233],606742,ENSG00000038295,,O43897,O43897,HGNC:11843 +GARD:0010696,Orphanet,99105,ORPHA:99105,1,CITED2,[MRG1],Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2,gene with protein product,6q24.1,Disease-causing germline mutation(s) in,Assessed,[PMID:16287139],602937,ENSG00000164442,,Q99967,Q99967,HGNC:1987 +GARD:0010698,Orphanet+OMIM,605275,OMIM:605275,1,LZTR1,"[BTBD29, LZTR-1]",leucine zipper like transcription regulator 1,gene with protein product,22q11.21,The molecular basis of the disorder is known,Unknown,,600574,ENSG00000099949,,Q8N653,,HGNC:6742 +GARD:0010699,Orphanet+OMIM,610733,OMIM:610733,1,SOS1,"[GF1, HGF]",SOS Ras/Rac guanine nucleotide exchange factor 1,gene with protein product,2p22.1,The molecular basis of the disorder is known,Unknown,,182530,ENSG00000115904,objectId:3096,Q07889,Q07889,HGNC:11187 +GARD:0010700,Orphanet+OMIM,611553,OMIM:611553,1,RAF1,"[C-Raf proto-oncogene, CRAF, Raf-1, c-Raf, serine/threonine kinase]","Raf-1 proto-oncogene, serine/threonine kinase",gene with protein product,3p25.2,The molecular basis of the disorder is known,Unknown,,164760,ENSG00000132155,objectId:2184,P04049,P04049,HGNC:9829 +GARD:0010701,Orphanet+OMIM,613224,OMIM:613224,1,NRAS,[N-ras],"NRAS proto-oncogene, GTPase",gene with protein product,1p13.2,The molecular basis of the disorder is known,Unknown,,164790,ENSG00000213281,objectId:2823,P01111,P01111,HGNC:7989 +GARD:0010704,Orphanet,2254,ORPHA:2254,6,AGTPBP1,"[CCP1, KIAA1035, Nna1, carboxypeptidase-tubulin, cytosolic carboxypeptidase 1, soluble carboxypeptidase, tubulinyl-Tyr carboxypeptidase, tyrosine carboxypeptidase]",ATP/GTP binding carboxypeptidase 1,gene with protein product,9q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:30976113],606830,ENSG00000135049,,Q9UPW5,Q9UPW5,HGNC:17258 +GARD:0010704,Orphanet,2254,ORPHA:2254,6,EXOSC3,"[CGI-102, CGI-102 protein, Exosome component Rrp40, RRP40, Rrp40p, exosome component Rrp40, hRrp-40, hRrp40p, p10]",exosome component 3,gene with protein product,9p13.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22544365, PMID:25144110]",606489,ENSG00000107371,,Q9NQT5,Q9NQT5,HGNC:17944 +GARD:0010704,Orphanet,2254,ORPHA:2254,6,EXOSC8,"[CBP-interacting protein 3, CIP3, EAP2, OIP2, Opa interacting protein 2, RRP43, Rrp43p, bA421P11.3, p9]",exosome component 8,gene with protein product,13q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24989451],606019,ENSG00000120699,,Q96B26,Q96B26,HGNC:17035 +GARD:0010704,Orphanet,2254,ORPHA:2254,6,VRK1,,VRK serine/threonine kinase 1,gene with protein product,14q32.2,Disease-causing germline mutation(s) in,Assessed,[PMID:19646678],602168,ENSG00000100749,2275,Q99986,Q99986,HGNC:12718 +GARD:0010704,Orphanet,2254,ORPHA:2254,6,SLC25A46,,solute carrier family 25 member 46,gene with protein product,5q22.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28637197],610826,ENSG00000164209,1096,Q96AG3,Q96AG3,HGNC:25198 +GARD:0010704,Orphanet,2254,ORPHA:2254,6,EXOSC9,"[PM/Scl-75, RRP45, Rrp45p, p5, p6, polymyositis/scleroderma autoantigen 1 (75kD)]",exosome component 9,gene with protein product,4q27,Disease-causing germline mutation(s) in,Assessed,[PMID:29727687],606180,ENSG00000123737,,Q06265,Q06265,HGNC:9137 +GARD:0010705,Orphanet,2524,ORPHA:2524,5,SEPSECS,"[O-phosphoseryl-tRNA(Sec) selenium transferase, SLA, SLA/LP, soluble liver antigen/liver pancreas antigen]",Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase,gene with protein product,4p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20920667],613009,ENSG00000109618,,Q9HD40,Q9HD40,HGNC:30605 +GARD:0010705,Orphanet,2524,ORPHA:2524,5,TSEN34,"[SEN34, SEN34L]",tRNA splicing endonuclease subunit 34,gene with protein product,19q13.42,Disease-causing germline mutation(s) in,Assessed,[PMID:18711368],608754,ENSG00000170892,,Q9BSV6,Q9BSV6,HGNC:15506 +GARD:0010705,Orphanet,2524,ORPHA:2524,5,TSEN15,,tRNA splicing endonuclease subunit 15,gene with protein product,1q25.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:27392077],608756,ENSG00000198860,,Q8WW01,Q8WW01,HGNC:16791 +GARD:0010705,Orphanet,2524,ORPHA:2524,5,TSEN2,"[MGC2776, SEN2, SEN2L]",tRNA splicing endonuclease subunit 2,gene with protein product,3p25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23562994],608753,ENSG00000154743,,Q8NCE0,Q8NCE0,HGNC:28422 +GARD:0010705,Orphanet,2524,ORPHA:2524,5,TSEN54,"[SEN54, SEN54L]",tRNA splicing endonuclease subunit 54,gene with protein product,17q25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301773],608755,ENSG00000182173,,Q7Z6J9,Q7Z6J9,HGNC:27561 +GARD:0010706,Orphanet,309854,ORPHA:309854,1,SLC30A10,"[DKFZp547M236, ZNT8, ZRC1, Zinc transporter 8, ZnT-10, zinc transporter 8]",solute carrier family 30 member 10,gene with protein product,1q41,Disease-causing germline mutation(s) in,Assessed,[PMID:22341972],611146,ENSG00000196660,1130,Q6XR72,Q6XR72,HGNC:25355 +GARD:0010707,Orphanet,90024,ORPHA:90024,1,FGF3,"[HBGF-3, INT-2 proto-oncogene protein, V-INT2 murine mammary tumor virus integration site oncogene homolog, murine mammary tumor virus integration site 2, mouse, oncogene INT2]",fibroblast growth factor 3,gene with protein product,11q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:22993869],164950,ENSG00000186895,,P11487,P11487,HGNC:3681 +GARD:0010708,Orphanet,97249,ORPHA:97249,1,PCLO,"[ACZ, DKFZp779G1236, KIAA0559, aczonin]",piccolo presynaptic cytomatrix protein,gene with protein product,7q21.11,Disease-causing germline mutation(s) in,Assessed,[PMID:25832664],604918,ENSG00000186472,,Q9Y6V0,,HGNC:13406 +GARD:0010710,Orphanet,166073,ORPHA:166073,1,RARS2,"[DALRD2, MGC14993, MGC23778, PRO1992, arginine tRNA ligase 2, mitochondrial (putative), dJ382I10.6]","arginyl-tRNA synthetase 2, mitochondrial",gene with protein product,6q15,Disease-causing germline mutation(s) in,Assessed,,611524,ENSG00000146282,,Q5T160,Q5T160,HGNC:21406 +GARD:0010714,Orphanet,137605,ORPHA:137605,1,SPRED1,"[FLJ33903, PPP1R147, protein phosphatase 1, regulatory subunit 147]",sprouty related EVH1 domain containing 1,gene with protein product,15q14,Disease-causing germline mutation(s) in,Assessed,[PMID:20945555],609291,ENSG00000166068,,Q7Z699,Q7Z699,HGNC:20249 +GARD:0010719,Orphanet,2701,ORPHA:2701,2,PPP1CB,"[MP, PP-1B, PP1B, PP1beta, PP1c, PPP1beta, myosin phosphatase]",protein phosphatase 1 catalytic subunit beta,gene with protein product,2p23.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:27264673, PMID:27868344, PMID:28211982]",600590,ENSG00000213639,,P62140,P62140,HGNC:9282 +GARD:0010719,Orphanet,2701,ORPHA:2701,2,SHOC2,"[KIAA0862, SOC-2, SOC2, SUR-8, SUR8]",SHOC2 leucine rich repeat scaffold protein,gene with protein product,10q25.2,Disease-causing germline mutation(s) in,Assessed,[PMID:19684605],602775,ENSG00000108061,,Q9UQ13,Q9UQ13,HGNC:15454 +GARD:0010726,Orphanet+OMIM,277300,OMIM:277300,1,DLL3,[SCDO1],delta like canonical Notch ligand 3,gene with protein product,19q13.2,The molecular basis of the disorder is known,Unknown,,602768,ENSG00000090932,ligandId:10560,Q9NYJ7,,HGNC:2909 +GARD:0010728,Orphanet,439854,ORPHA:439854,1,PRKAG2,"[AAKG, AAKG2, AMPK gamma2, CMH6, H91620p, WPWS]",protein kinase AMP-activated non-catalytic subunit gamma 2,gene with protein product,7q36.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15877279, PMID:17667862]",602743,ENSG00000106617,1546,Q9UGJ0,Q9UGJ0,HGNC:9386 +GARD:0010729,Orphanet,77293,ORPHA:77293,1,SMPD1,"[ASM, Niemann-Pick type A/B, acid sphingomyelinase]",sphingomyelin phosphodiesterase 1,gene with protein product,11p15.4,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19405096],607608,ENSG00000166311,2514,P17405,P17405,HGNC:11120 +GARD:0010730,Orphanet,79096,ORPHA:79096,1,PNPO,"[PDXPO, pyridoxal 5'-phosphate synthase]",pyridoxamine 5'-phosphate oxidase,gene with protein product,17q21.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:15772097],603287,ENSG00000108439,,Q9NVS9,Q9NVS9,HGNC:30260 +GARD:0010731,Orphanet,59306,ORPHA:59306,1,XK,"[Kx, Kx antigen, McLeod syndrome, X1k, XKR1]",X-linked Kx blood group,gene with protein product,Xp21.1,Disease-causing germline mutation(s) in,Assessed,,314850,ENSG00000047597,,P51811,P51811,HGNC:12811 +GARD:0010732,Orphanet,542310,ORPHA:542310,1,SNORD118,[U8],"small nucleolar RNA, C/D box 118",Non-coding RNA,17p13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:27571260, PMID:28177126]",616663,ENSG00000200463,,,,HGNC:32952 +GARD:0010734,Orphanet,284343,ORPHA:284343,1,DICER1,"[Dicer, HERNA, K12H4.8-LIKE, KIAA0928, dicer 1, double-stranded RNA-specific endoribonuclease]","dicer 1, ribonuclease III",gene with protein product,14q32.13,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21266384, PMID:24761742]",606241,ENSG00000100697,,Q9UPY3,Q9UPY3,HGNC:17098 +GARD:0010738,Orphanet,93600,ORPHA:93600,1,HOGA1,"[DHDPS2, FLJ37472, N-acetylneuraminate pyruvate lyase 2 (putative), NPL2, dihydrodipicolinate synthetase homolog 2 (E. coli)]",4-hydroxy-2-oxoglutarate aldolase 1,gene with protein product,10q24.2,Disease-causing germline mutation(s) in,Assessed,,613597,ENSG00000241935,,Q86XE5,Q86XE5,HGNC:25155 +GARD:0010740,Orphanet,261197,ORPHA:261197,1,SH2B1,"[FLJ30542, SH2-B homolog, SH2B]",SH2B adaptor protein 1,gene with protein product,16p11.2,Role in the phenotype of,Assessed,,608937,ENSG00000178188,,Q9NRF2,Q9NRF2,HGNC:30417 +GARD:0010753,Orphanet,2309,ORPHA:2309,4,KRT6B,,keratin 6B,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301457],148042,ENSG00000185479,,P04259,P04259,HGNC:6444 +GARD:0010753,Orphanet,2309,ORPHA:2309,4,KRT17,,keratin 17,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301457],148069,ENSG00000128422,,Q04695,Q04695,HGNC:6427 +GARD:0010753,Orphanet,2309,ORPHA:2309,4,KRT16,"[NEPPK, focal non-epidermolytic palmoplantar keratoderma]",keratin 16,gene with protein product,17q21.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301457],148067,ENSG00000186832,,P08779,P08779,HGNC:6423 +GARD:0010753,Orphanet,2309,ORPHA:2309,4,KRT6A,"[CK6C, CK6D, K6C, K6D]",keratin 6A,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301457],148041,ENSG00000205420,,P02538,P02538,HGNC:6443 +GARD:0010754,Orphanet,353281,ORPHA:353281,1,CREBBP,"[CBP, KAT3A, RTS]",CREB binding protein,gene with protein product,16p13.3,Role in the phenotype of,Assessed,[PMID:20301699],600140,ENSG00000005339,2734,Q92793,Q92793,HGNC:2348 +GARD:0010760,Orphanet,137625,ORPHA:137625,1,GYS1,[GSY],glycogen synthase 1,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,,138570,ENSG00000104812,,P13807,P13807,HGNC:4706 +GARD:0010762,Orphanet,289601,ORPHA:289601,1,NT5E,"[CALJA, CD73, eN, eNT]",5'-nucleotidase ecto,gene with protein product,6q14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21288095],129190,ENSG00000135318,1232,P21589,P21589,HGNC:8021 +GARD:0010763,Orphanet+OMIM,126800,OMIM:126800,1,DURS1,[DUS],Duane retraction syndrome 1,unknown,8q13,The disease phenotype itself was mapped,Unknown,,126800,,,,,GeneID:10674 +GARD:0010764,Orphanet,289891,ORPHA:289891,1,GNMT,,glycine N-methyltransferase,gene with protein product,6p21.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:19585268],606628,ENSG00000124713,,Q14749,Q14749,HGNC:4415 +GARD:0010766,Orphanet,331,ORPHA:331,2,F13A1,,coagulation factor XIII A chain,gene with protein product,6p25.1,Disease-causing germline mutation(s) in,Assessed,[PMID:21738029],134570,ENSG00000124491,,P00488,P00488,HGNC:3531 +GARD:0010766,Orphanet,331,ORPHA:331,2,F13B,[FXIIIB],coagulation factor XIII B chain,gene with protein product,1q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21738029],134580,ENSG00000143278,,P05160,P05160,HGNC:3534 +GARD:0010767,Orphanet,79330,ORPHA:79330,1,MOGS,"[CWH41, DER7, GCS1, glucosidase I, processing A-glucosidase I]",mannosyl-oligosaccharide glucosidase,gene with protein product,2p13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:20301507],601336,ENSG00000115275,,Q13724,Q13724,HGNC:24862 +GARD:0010768,Orphanet,569,ORPHA:569,4,PRRT2,"[DKFZp547J199, DSPB3, EKD1, FICCA, FLJ25513, IFITMD1, Interferon induced transmembrane protein domain containing 1, PKC, dispanin subfamily B member 3, interferon induced transmembrane protein domain containing 1]",proline rich transmembrane protein 2,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:22845787, PMID:23077016, PMID:23077024]",614386,ENSG00000167371,,Q7Z6L0,,HGNC:30500 +GARD:0010768,Orphanet,569,ORPHA:569,4,CACNA1A,"[APCA, Cav2.1, EA2, FHM, HPCA]",calcium voltage-gated channel subunit alpha1 A,gene with protein product,19p13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301562],601011,ENSG00000141837,532,O00555,O00555,HGNC:1388 +GARD:0010768,Orphanet,569,ORPHA:569,4,SCN1A,"[GEFSP2, HBSCI, NAC1, Nav1.1, SMEI]",sodium voltage-gated channel alpha subunit 1,gene with protein product,2q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301562],182389,ENSG00000144285,578,P35498,P35498,HGNC:10585 +GARD:0010768,Orphanet,569,ORPHA:569,4,ATP1A2,"[FHM2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2, sodium/potassium-transporting ATPase subunit alpha-2]",ATPase Na+/K+ transporting subunit alpha 2,gene with protein product,1q23.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301562],182340,ENSG00000018625,834,P50993,P50993,HGNC:800 +GARD:0010769,Orphanet,59135,ORPHA:59135,1,MYH7,[CMD1S],myosin heavy chain 7,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301606],160760,ENSG00000092054,,P12883,P12883,HGNC:7577 +GARD:0010771,Orphanet,478,ORPHA:478,21,WDR11,"[DR11, FLJ10506, HH14, KIAA1351, SRI1, WDR15, sensitization to ricin complex subunit 1]",WD repeat domain 11,gene with protein product,10q26.12,Disease-causing germline mutation(s) in,Assessed,[PMID:20887964],606417,ENSG00000120008,,Q9BZH6,,HGNC:13831 +GARD:0010771,Orphanet,478,ORPHA:478,21,HESX1,"[ANF, RPX]",HESX homeobox 1,gene with protein product,3p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23465708],601802,ENSG00000163666,,Q9UBX0,Q9UBX0,HGNC:4877 +GARD:0010771,Orphanet,478,ORPHA:478,21,HS6ST1,,heparan sulfate 6-O-sulfotransferase 1,gene with protein product,2q14.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:21700882, PMID:23997646]",604846,ENSG00000136720,,O60243,O60243,HGNC:5201 +GARD:0010771,Orphanet,478,ORPHA:478,21,CHD7,"[FLJ20357, FLJ20361, KIAA1416]",chromodomain helicase DNA binding protein 7,gene with protein product,8q12.2,Disease-causing germline mutation(s) in,Assessed,[PMID:18834967],608892,ENSG00000171316,,Q9P2D1,,HGNC:20626 +GARD:0010771,Orphanet,478,ORPHA:478,21,CCDC141,"[CAMDI, FLJ39502, coiled-coil protein associated with myosin II and DISC1]",coiled-coil domain containing 141,gene with protein product,2q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:28324054],616031,ENSG00000163492,,Q6ZP82,,HGNC:26821 +GARD:0010771,Orphanet,478,ORPHA:478,21,CCDC141,"[CAMDI, FLJ39502, coiled-coil protein associated with myosin II and DISC1]",coiled-coil domain containing 141,gene with protein product,2q31.2,Major susceptibility factor in,Assessed,[PMID:28324054],616031,ENSG00000163492,,Q6ZP82,,HGNC:26821 +GARD:0010771,Orphanet,478,ORPHA:478,21,IL17RD,"[FLJ35755, IL-17RD, IL17RLM, SEF]",interleukin 17 receptor D,gene with protein product,3p14.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23643382],606807,ENSG00000144730,1741,Q8NFM7,Q8NFM7,HGNC:17616 +GARD:0010771,Orphanet,478,ORPHA:478,21,FGF8,"[AIGF, androgen-induced growth factor]",fibroblast growth factor 8,gene with protein product,10q24.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:18596921, PMID:20463092]",600483,ENSG00000107831,,P55075,P55075,HGNC:3686 +GARD:0010771,Orphanet,478,ORPHA:478,21,TACR3,"[NK3, NK3 receptor, NK3R, NKR, TAC3R, neurokinin B receptor, neurokinin beta receptor, neuromedin-K receptor]",tachykinin receptor 3,gene with protein product,4q24,Disease-causing germline mutation(s) in,Assessed,"[PMID:19079066, PMID:23643382]",162332,ENSG00000169836,362,P29371,P29371,HGNC:11528 +GARD:0010771,Orphanet,478,ORPHA:478,21,FGFR1,"[BFGFR, CD331, CEK, FLG, H2, H3, H4, H5, N-SAM, Pfeiffer syndrome]",fibroblast growth factor receptor 1,gene with protein product,8p11.23,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:17235395],136350,ENSG00000077782,1808,P11362,P11362,HGNC:3688 +GARD:0010771,Orphanet,478,ORPHA:478,21,DCC,"[IGDCC1, NTN1R1, immunoglobulin superfamily, DCC subclass, member 1]",DCC netrin 1 receptor,gene with protein product,18q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:29202173],120470,ENSG00000187323,,P43146,P43146,HGNC:2701 +GARD:0010771,Orphanet,478,ORPHA:478,21,SEMA3A,"[Coll-1, Hsema-I, SEMA1, SemD, Sema III, coll-1, sema III]",semaphorin 3A,gene with protein product,7q21.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:22416012],603961,ENSG00000075213,,Q14563,Q14563,HGNC:10723 +GARD:0010771,Orphanet,478,ORPHA:478,21,SPRY4,,sprouty RTK signaling antagonist 4,gene with protein product,5q31.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23643382],607984,ENSG00000187678,,Q9C004,Q9C004,HGNC:15533 +GARD:0010771,Orphanet,478,ORPHA:478,21,PROKR2,"[GPR73b, GPRg2, PKR2, dJ680N4.3]",prokineticin receptor 2,gene with protein product,20p12.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18682503],607123,ENSG00000101292,336,Q8NFJ6,Q8NFJ6,HGNC:15836 +GARD:0010771,Orphanet,478,ORPHA:478,21,PROK2,"[BV8, KAL4, MIT1, PK2, protein Bv8 homolog]",prokineticin 2,gene with protein product,3p13,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:18682503],607002,ENSG00000163421,,Q9HC23,Q9HC23,HGNC:18455 +GARD:0010771,Orphanet,478,ORPHA:478,21,NDNF,[FLJ23191],neuron derived neurotrophic factor,gene with protein product,4q27,Disease-causing germline mutation(s) in,Assessed,[PMID:31883645],616506,ENSG00000173376,,Q8TB73,,HGNC:26256 +GARD:0010771,Orphanet,478,ORPHA:478,21,ANOS1,"[Adhesion molecule-like, X-linked, KALIG-1, Kallmann syndrome interval gene 1, WAP four-disulfide core domain 19, WFDC19, anosmin-1]",anosmin 1,gene with protein product,Xp22.31,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:21168128],300836,ENSG00000011201,,P23352,P23352,HGNC:6211 +GARD:0010771,Orphanet,478,ORPHA:478,21,FLRT3,,fibronectin leucine rich transmembrane protein 3,gene with protein product,20p12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23643382],604808,ENSG00000125848,,Q9NZU0,Q9NZU0,HGNC:3762 +GARD:0010771,Orphanet,478,ORPHA:478,21,FGF17,[FGF-13],fibroblast growth factor 17,gene with protein product,8p21.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23643382],603725,ENSG00000158815,,O60258,O60258,HGNC:3673 +GARD:0010771,Orphanet,478,ORPHA:478,21,DUSP6,"[MKP-3, PYST1]",dual specificity phosphatase 6,gene with protein product,12q21.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23643382],602748,ENSG00000139318,,Q16828,Q16828,HGNC:3072 +GARD:0010771,Orphanet,478,ORPHA:478,21,FEZF1,,FEZ family zinc finger 1,gene with protein product,7q31.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25192046],613301,ENSG00000128610,,A0PJY2,,HGNC:22788 +GARD:0010771,Orphanet,478,ORPHA:478,21,SOX10,"[DOM, WS2E, WS4, dominant megacolon, mouse, human homolog of]",SRY-box transcription factor 10,gene with protein product,22q13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:23643381],602229,ENSG00000100146,,P56693,P56693,HGNC:11190 +GARD:0010772,Orphanet+OMIM,610628,OMIM:610628,1,PROK2,"[BV8, KAL4, MIT1, PK2, protein Bv8 homolog]",prokineticin 2,gene with protein product,3p13,The molecular basis of the disorder is known,Unknown,,607002,ENSG00000163421,ligandId:1867,Q9HC23,Q9HC23,HGNC:18455 +GARD:0010773,Orphanet+OMIM,612370,OMIM:612370,1,CHD7,"[FLJ20357, FLJ20361, KIAA1416]",chromodomain helicase DNA binding protein 7,gene with protein product,8q12.2,The molecular basis of the disorder is known,Unknown,,608892,ENSG00000171316,,Q9P2D1,,HGNC:20626 +GARD:0010774,Orphanet+OMIM,612702,OMIM:612702,1,FGF8,"[AIGF, androgen-induced growth factor]",fibroblast growth factor 8,gene with protein product,10q24.32,The molecular basis of the disorder is known,Unknown,,600483,ENSG00000107831,ligandId:4929,P55075,P55075,HGNC:3686 +GARD:0010775,Orphanet,228426,ORPHA:228426,1,ITCH,[AIP4],itchy E3 ubiquitin protein ligase,gene with protein product,20q11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:20170897],606409,ENSG00000078747,,Q96J02,Q96J02,HGNC:13890 +GARD:0010778,Orphanet,169142,ORPHA:169142,2,SMARCD2,"[BAF60B, CRACD2, PRO2451, Rsc6p, SWI/SNF complex 60 kDa subunit B, Swp73-like protein, chromatin remodeling complex BAF60B subunit, mammalian chromatin remodeling complex BRG1-associated factor 60B]","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2",gene with protein product,17q23.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28369036],601736,ENSG00000108604,,Q92925,Q92925,HGNC:11107 +GARD:0010778,Orphanet,169142,ORPHA:169142,2,CEBPE,[CRP1],CCAAT enhancer binding protein epsilon,gene with protein product,14q11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:10359588],600749,ENSG00000092067,,Q15744,,HGNC:1836 +GARD:0010781,Orphanet,53540,ORPHA:53540,1,NR2E3,"[PNR, RP37, rd7]",nuclear receptor subfamily 2 group E member 3,gene with protein product,15q23,Disease-causing germline mutation(s) in,Assessed,[PMID:10655056],604485,ENSG00000278570,616,Q9Y5X4,Q9Y5X4,HGNC:7974 +GARD:0010784,Orphanet,101070,ORPHA:101070,2,ADGRG1,"[TM7LN4, TM7XN1]",adhesion G protein-coupled receptor G1,gene with protein product,16q21,Disease-causing germline mutation(s) in,Assessed,[PMID:21349848],604110,ENSG00000205336,186,Q9Y653,,HGNC:4512 +GARD:0010784,Orphanet,101070,ORPHA:101070,2,PTEN,"[MMAC1, PTEN1, TEP1, mutated in multiple advanced cancers 1]",phosphatase and tensin homolog,gene with protein product,10q23.31,Disease-causing germline mutation(s) in,Assessed,[PMID:32959437],601728,ENSG00000171862,2497,P60484,P60484,HGNC:9588 +GARD:0010785,Orphanet,208441,ORPHA:208441,1,FIG4,"[ALS11, CMT4J, SAC3, dJ249I4.1, hSac3]",FIG4 phosphoinositide 5-phosphatase,gene with protein product,6q21,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24598713],609390,ENSG00000112367,,Q92562,Q92562,HGNC:16873 +GARD:0010786,Orphanet,208447,ORPHA:208447,1,GRIN1,[GluN1],glutamate ionotropic receptor NMDA type subunit 1,gene with protein product,9q34.3,Disease-causing germline mutation(s) in,Assessed,[PMID:29365063],138249,ENSG00000176884,455,Q05586,Q05586,HGNC:4584 +GARD:0010788,Orphanet,60030,ORPHA:60030,2,TGFBR2,"[TBR-ii, TBRII]",transforming growth factor beta receptor 2,gene with protein product,3p24.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:15731757, PMID:16928994]",190182,ENSG00000163513,1795,P37173,P37173,HGNC:11773 +GARD:0010788,Orphanet,60030,ORPHA:60030,2,TGFBR1,"[ACVRLK4, ALK-5, ALK5, TBR-i, TBRI, activin A receptor type II-like kinase, 53kDa]",transforming growth factor beta receptor 1,gene with protein product,9q22.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:15731757, PMID:16928994]",190181,ENSG00000106799,1788,P36897,P36897,HGNC:11772 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,CNGA3,"[CCNC1, CCNCa, CNG3]",cyclic nucleotide gated channel subunit alpha 3,gene with protein product,2q11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:25052312],600053,ENSG00000144191,396,Q16281,,HGNC:2150 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,RAB28,,"RAB28, member RAS oncogene family",gene with protein product,4p15.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23746546],612994,ENSG00000157869,,P51157,P51157,HGNC:9768 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,GUCY2D,"[CYGD, LCA1, RETGC-1, ROS-GC1, retGC, retinal guanylate cyclase 1, rod outer segment membrane guanylate cyclase]","guanylate cyclase 2D, retinal",gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20517349, PMID:26992781]",600179,ENSG00000132518,2031,Q02846,Q02846,HGNC:4689 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,ABCA4,"[ARMD2, CORD3, FFM, Stargardt disease]",ATP binding cassette subfamily A member 4,gene with protein product,1p22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:10958761, PMID:23776498, PMID:26992781]",601691,ENSG00000198691,759,P78363,P78363,HGNC:34 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,PRPH2,"[CACD2, TSPAN22, rd2, retinal peripherin]",peripherin 2,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:23563732, PMID:9279751]",179605,ENSG00000112619,,P23942,,HGNC:9942 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,OPN1LW,"[COD5, cone dystrophy 5 (X-linked)]","opsin 1, long wave sensitive",gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20579627],300822,ENSG00000102076,2961,P04000,P04000,HGNC:9936 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,CFAP410,"[A2, LRRC76, YF5, leucine rich repeat containing 76, nuclear encoded mitochondrial protein]",cilia and flagella associated protein 410,gene with protein product,21q22.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23105016],603191,ENSG00000160226,,O43822,O43822,HGNC:1260 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,TTLL5,[tubulin polyglutamylase TTLL5],tubulin tyrosine ligase like 5,gene with protein product,14q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:24791901],612268,ENSG00000119685,,Q6EMB2,Q6EMB2,HGNC:19963 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,RPGRIP1,"[CORD13, LCA6, RGI1]",RPGR interacting protein 1,gene with protein product,14q11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:12920076, PMID:26992781]",605446,ENSG00000092200,,Q96KN7,Q96KN7,HGNC:13436 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,NMNAT1,"[NMNAT, PNAT1, nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1]",nicotinamide nucleotide adenylyltransferase 1,gene with protein product,1p36.22,Disease-causing germline mutation(s) in,Assessed,[PMID:28369829],608700,ENSG00000173614,,Q9HAN9,Q9HAN9,HGNC:17877 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,PITPNM3,"[ACKR6, NIR1, RDGBA3, atypical chemokine receptor 6]",PITPNM family member 3,gene with protein product,17p13.2-p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17377520],608921,ENSG00000091622,,Q9BZ71,Q9BZ71,HGNC:21043 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,UNC119,"[HRG4, POC7, POC7 centriolar protein homolog A (Chlamydomonas), POC7A]",unc-119 lipid binding chaperone,gene with protein product,17q11.2,Disease-causing germline mutation(s) in,Assessed,"[PMID:11006213, PMID:26992781]",604011,ENSG00000109103,3011,Q13432,Q13432,HGNC:12565 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,CACNA2D4,,calcium voltage-gated channel auxiliary subunit alpha2delta 4,gene with protein product,12p13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:17033974],608171,ENSG00000151062,,Q7Z3S7,Q7Z3S7,HGNC:20202 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,ADAM9,"[KIAA0021, MCMP, MDC9, Mltng, meltrin gamma]",ADAM metallopeptidase domain 9,gene with protein product,8p11.22,Disease-causing germline mutation(s) in,Assessed,[PMID:19409519],602713,ENSG00000168615,1657,Q13443,Q13443,HGNC:216 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,AIPL1,,aryl hydrocarbon receptor interacting protein like 1,gene with protein product,17p13.2,Candidate gene tested in,Not yet assessed,[PMID:10873396],604392,ENSG00000129221,,Q9NZN9,Q9NZN9,HGNC:359 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,PROM1,"[AC133, CD133, CORD12, RP41]",prominin 1,gene with protein product,4p15.32,Disease-causing germline mutation(s) in,Assessed,[PMID:19718270],604365,ENSG00000007062,,O43490,,HGNC:9454 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,CDHR1,"[CORD15, KIAA1775, RP65]",cadherin related family member 1,gene with protein product,10q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20805371],609502,ENSG00000148600,,Q96JP9,,HGNC:14550 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,GUCA1A,"[COD3, CORD14, GCAP, GCAP1, cone dystrophy 3, dJ139D8.6]",guanylate cyclase activator 1A,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:23428504, PMID:26992781]",600364,ENSG00000048545,,P43080,P43080,HGNC:4678 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,TLCD3B,,TLC domain containing 3B,gene with protein product,16p11.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:33077892],615175,ENSG00000149926,,Q71RH2,,HGNC:25295 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,RAX2,"[ARMD6, CORD11, MGC15631]",retina and anterior neural fold homeobox 2,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15028672, PMID:25789692]",610362,ENSG00000173976,,Q96IS3,,HGNC:18286 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,RPGR,[CORDX1],retinitis pigmentosa GTPase regulator,gene with protein product,Xp11.4,Disease-causing germline mutation(s) in,Assessed,"[PMID:11857109, PMID:23776498]",312610,ENSG00000156313,,Q92834,Q92834,HGNC:10295 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,ATF6,"[ATF6A, activating transcription factor 6 alpha]",activating transcription factor 6,gene with protein product,1q23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28479318],605537,ENSG00000118217,,P18850,P18850,HGNC:791 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,POC1B,"[FLJ14923, TUWD12]",POC1 centriolar protein B,gene with protein product,12q21.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25018096],614784,ENSG00000139323,,Q8TC44,Q8TC44,HGNC:30836 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,CACNA1F,"[CORDX3, CSNB2A, CSNBX2, Cav1.4, JM8, JMC8, OA2]",calcium voltage-gated channel subunit alpha1 F,gene with protein product,Xp11.23,Disease-causing germline mutation(s) in,Assessed,"[PMID:16505158, PMID:26992781]",300110,ENSG00000102001,531,O60840,O60840,HGNC:1393 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,RIMS1,"[KIAA0340, RIM, RIM1, Rab3-interacting molecule]",regulating synaptic membrane exocytosis 1,gene with protein product,6q13,Disease-causing germline mutation(s) in,Assessed,[PMID:12659814],606629,ENSG00000079841,,Q86UR5,Q86UR5,HGNC:17282 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,DRAM2,"[MGC54289, PRO180, RP5-1180E21.1, WWFQ154]",DNA damage regulated autophagy modulator 2,gene with protein product,1p13.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25983245],613360,ENSG00000156171,,Q6UX65,,HGNC:28769 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,OPN1MW,"[COD5, OPN1MW1, cone dystrophy 5 (X-linked)]","opsin 1, medium wave sensitive",gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20579627],300821,ENSG00000268221,2962,P04001,P04001,HGNC:4206 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,CRX,"[CRD, LCA7, OTX3, orthodenticle homeobox 3]",cone-rod homeobox,gene with protein product,19q13.33,Disease-causing germline mutation(s) in,Assessed,"[PMID:26682157, PMID:26992781]",602225,ENSG00000105392,,O43186,O43186,HGNC:2383 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,SEMA4A,"[CORD10, FLJ12287, SemB]",semaphorin 4A,gene with protein product,1q22,Disease-causing germline mutation(s) in,Assessed,[PMID:16199541],607292,ENSG00000196189,,Q9H3S1,Q9H3S1,HGNC:10729 +GARD:0010790,Orphanet,1872,ORPHA:1872,30,CFAP418,"[BBS21, Bardet-Biedl syndrome 21, CORD16, FAP418, FLJ30600, MOT25, RP64, cone-rod dystrophy 16]",cilia and flagella associated protein 418,gene with protein product,8q22.1,Disease-causing germline mutation(s) in,Assessed,[PMID:22177090],614477,ENSG00000156172,,Q96NL8,,HGNC:27232 +GARD:0010792,Orphanet,100069,ORPHA:100069,7,TMEM106B,"[FLJ11273, MGC33727]",transmembrane protein 106B,gene with protein product,7p21.3,Major susceptibility factor in,Assessed,"[PMID:21614538, PMID:27543298]",613413,ENSG00000106460,,Q9NUM4,,HGNC:22407 +GARD:0010792,Orphanet,100069,ORPHA:100069,7,MAPT,"[FLJ31424, FTDP-17, G protein beta1/gamma2 subunit-interacting factor 1, MGC138549, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, microtubule-associated protein tau, isoform 4, protein phosphatase 1, regulatory subunit 103, tau, tau-40]",microtubule associated protein tau,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,[PMID:23597030],157140,ENSG00000186868,,P10636,P10636,HGNC:6893 +GARD:0010792,Orphanet,100069,ORPHA:100069,7,PSEN1,"[FAD, PS1, S182]",presenilin 1,gene with protein product,14q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:11094121],104311,ENSG00000080815,2402,P49768,P49768,HGNC:9508 +GARD:0010792,Orphanet,100069,ORPHA:100069,7,GRN,"[CLN11, PCDGF, PGRN, progranulin]",granulin precursor,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,[PMID:23597030],138945,ENSG00000030582,,P28799,P28799,HGNC:4601 +GARD:0010792,Orphanet,100069,ORPHA:100069,7,CHMP2B,"[CHMP2.5, DKFZP564O123, VPS2 homolog B (S. cerevisiae), VPS2B]",charged multivesicular body protein 2B,gene with protein product,3p11.2,Major susceptibility factor in,Assessed,[PMID:23597030],609512,ENSG00000083937,,Q9UQN3,Q9UQN3,HGNC:24537 +GARD:0010792,Orphanet,100069,ORPHA:100069,7,TREM2,"[TREM-2, Trem2a, Trem2b, Trem2c]",triggering receptor expressed on myeloid cells 2,gene with protein product,6p21.1,Major susceptibility factor in,Assessed,"[PMID:24139279, PMID:25042114]",605086,ENSG00000095970,,Q9NZC2,Q9NZC2,HGNC:17761 +GARD:0010792,Orphanet,100069,ORPHA:100069,7,C9ORF72,"[DENND9, DENNL72, MGC23980]",C9orf72-SMCR8 complex subunit,gene with protein product,9p21.2,Major susceptibility factor in,Not yet assessed,[PMID:23597030],614260,ENSG00000147894,,Q96LT7,,HGNC:28337 +GARD:0010793,Orphanet,100070,ORPHA:100070,8,TMEM106B,"[FLJ11273, MGC33727]",transmembrane protein 106B,gene with protein product,7p21.3,Major susceptibility factor in,Assessed,"[PMID:21614538, PMID:27543298]",613413,ENSG00000106460,,Q9NUM4,,HGNC:22407 +GARD:0010793,Orphanet,100070,ORPHA:100070,8,MAPT,"[FLJ31424, FTDP-17, G protein beta1/gamma2 subunit-interacting factor 1, MGC138549, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, microtubule-associated protein tau, isoform 4, protein phosphatase 1, regulatory subunit 103, tau, tau-40]",microtubule associated protein tau,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,[PMID:23597030],157140,ENSG00000186868,,P10636,P10636,HGNC:6893 +GARD:0010793,Orphanet,100070,ORPHA:100070,8,PSEN1,"[FAD, PS1, S182]",presenilin 1,gene with protein product,14q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:15122701],104311,ENSG00000080815,2402,P49768,P49768,HGNC:9508 +GARD:0010793,Orphanet,100070,ORPHA:100070,8,VCP,"[CDC48, IBMPFD, TERA, p97, transitional endoplasmic reticulum ATPase]",valosin containing protein,gene with protein product,9p13.3,Major susceptibility factor in,Not yet assessed,[PMID:23597030],601023,ENSG00000165280,,P55072,P55072,HGNC:12666 +GARD:0010793,Orphanet,100070,ORPHA:100070,8,GRN,"[CLN11, PCDGF, PGRN, progranulin]",granulin precursor,gene with protein product,17q21.31,Major susceptibility factor in,Assessed,[PMID:23597030],138945,ENSG00000030582,,P28799,P28799,HGNC:4601 +GARD:0010793,Orphanet,100070,ORPHA:100070,8,CHMP2B,"[CHMP2.5, DKFZP564O123, VPS2 homolog B (S. cerevisiae), VPS2B]",charged multivesicular body protein 2B,gene with protein product,3p11.2,Major susceptibility factor in,Assessed,[PMID:23597030],609512,ENSG00000083937,,Q9UQN3,Q9UQN3,HGNC:24537 +GARD:0010793,Orphanet,100070,ORPHA:100070,8,TREM2,"[TREM-2, Trem2a, Trem2b, Trem2c]",triggering receptor expressed on myeloid cells 2,gene with protein product,6p21.1,Major susceptibility factor in,Assessed,[PMID:25042114],605086,ENSG00000095970,,Q9NZC2,Q9NZC2,HGNC:17761 +GARD:0010793,Orphanet,100070,ORPHA:100070,8,C9ORF72,"[DENND9, DENNL72, MGC23980]",C9orf72-SMCR8 complex subunit,gene with protein product,9p21.2,Major susceptibility factor in,Not yet assessed,[PMID:23597030],614260,ENSG00000147894,,Q96LT7,,HGNC:28337 +GARD:0010803,Orphanet,313,ORPHA:313,9,ALOXE3,"[E-LOX, Epidermal lipoxygenase-3, eLOX3, hydroperoxide isomerase]",arachidonate lipoxygenase 3,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:19131948, PMID:21668430, PMID:25423909]",607206,ENSG00000179148,1390,Q9BYJ1,Q9BYJ1,HGNC:13743 +GARD:0010803,Orphanet,313,ORPHA:313,9,SULT2B1,[HSST2],sulfotransferase family 2B member 1,gene with protein product,19q13.33,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:28575648],604125,ENSG00000088002,,O00204,O00204,HGNC:11459 +GARD:0010803,Orphanet,313,ORPHA:313,9,LIPN,[bA186O14.3],lipase family member N,gene with protein product,10q23.31,Disease-causing germline mutation(s) in,Assessed,[PMID:21439540],613924,ENSG00000204020,,Q5VXI9,Q5VXI9,HGNC:23452 +GARD:0010803,Orphanet,313,ORPHA:313,9,CYP4F22,[FLJ39501],cytochrome P450 family 4 subfamily F member 22,gene with protein product,19p13.12,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301593, PMID:22739337]",611495,ENSG00000171954,1349,Q6NT55,Q6NT55,HGNC:26820 +GARD:0010803,Orphanet,313,ORPHA:313,9,SDR9C7,"[RDHS, SDR-O]",short chain dehydrogenase/reductase family 9C member 7,gene with protein product,12q13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:28369735, PMID:28906551]",609769,ENSG00000170426,,Q8NEX9,Q8NEX9,HGNC:29958 +GARD:0010803,Orphanet,313,ORPHA:313,9,NIPAL4,"[ICHYN, SLC57A6, ichthyin]",NIPA like domain containing 4,gene with protein product,5q33.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301593, PMID:22739337]",609383,ENSG00000172548,3038,Q0D2K0,Q0D2K0,HGNC:28018 +GARD:0010803,Orphanet,313,ORPHA:313,9,TGM1,"[K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase, LI, LI1, TGASE, TGK]",transglutaminase 1,gene with protein product,14q12,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301593, PMID:22739337]",190195,ENSG00000092295,,P22735,P22735,HGNC:11777 +GARD:0010803,Orphanet,313,ORPHA:313,9,ALOX12B,"[12R-LOX, 12R-lipoxygenase]","arachidonate 12-lipoxygenase, 12R type",gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301593, PMID:22739337]",603741,ENSG00000179477,1386,O75342,O75342,HGNC:430 +GARD:0010803,Orphanet,313,ORPHA:313,9,ABCA12,"[DKFZP434G232, LI2]",ATP binding cassette subfamily A member 12,gene with protein product,2q35,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301593, PMID:22739337]",607800,ENSG00000144452,766,Q86UK0,Q86UK0,HGNC:14637 +GARD:0010805,Orphanet,247798,ORPHA:247798,1,MUTYH,[MYH],mutY DNA glycosylase,gene with protein product,1p34.1,Disease-causing germline mutation(s) in,Assessed,[PMID:17489848],604933,ENSG00000132781,,Q9UIF7,Q9UIF7,HGNC:7527 +GARD:0010806,Orphanet,101039,ORPHA:101039,1,PCDH19,"[EIEE9, KIAA1313]",protocadherin 19,gene with protein product,Xq22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:18469813, PMID:19752159, PMID:20830798]",300460,ENSG00000165194,,Q8TAB3,,HGNC:14270 +GARD:0010810,Orphanet,329308,ORPHA:329308,1,FA2H,"[FAAH, FLJ25287, fatty acid hydroxylase]",fatty acid 2-hydroxylase,gene with protein product,16q23.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20853438],611026,ENSG00000103089,,Q7L5A8,Q7L5A8,HGNC:21197 +GARD:0010814,Orphanet,79102,ORPHA:79102,3,GABRA3,"[GABA(A) receptor, alpha 3]",gamma-aminobutyric acid type A receptor subunit alpha3,gene with protein product,Xq28,Major susceptibility factor in,Assessed,[PMID:17970773],305660,ENSG00000011677,406,P34903,P34903,HGNC:4077 +GARD:0010814,Orphanet,79102,ORPHA:79102,3,CACNA1S,"[Cav1.1, hypoPP]",calcium voltage-gated channel subunit alpha1 S,gene with protein product,1q32.1,Candidate gene tested in,Not yet assessed,[PMID:15001631],114208,ENSG00000081248,528,Q13698,Q13698,HGNC:1397 +GARD:0010814,Orphanet,79102,ORPHA:79102,3,KCNJ18,"[KIR2.6, TTPP2]",potassium inwardly rectifying channel subfamily J member 18,gene with protein product,17p11.2,Major susceptibility factor in,Assessed,[PMID:20074522],613236,ENSG00000260458,,B7U540,,HGNC:39080 +GARD:0010817,Orphanet,101011,ORPHA:101011,1,REEP1,"[FLJ13110, SPG31, Yip2a, receptor expression enhancing protein 1]",receptor accessory protein 1,gene with protein product,2p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:22703882],609139,ENSG00000068615,,Q9H902,Q9H902,HGNC:25786 +GARD:0010818,Orphanet,289504,ORPHA:289504,1,ACSF3,[malonyl-CoA synthetase],acyl-CoA synthetase family member 3,gene with protein product,16q24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:21841779],614245,ENSG00000176715,,Q4G176,Q4G176,HGNC:27288 +GARD:0010823,Orphanet,71526,ORPHA:71526,1,POMC,"[ACTH, CLIP, LPH, MSH, NPP, POC, adrenocorticotropic hormone, adrenocorticotropin, alpha-melanocyte stimulating hormone, beta-endorphin, beta-lipotropin, beta-melanocyte stimulating hormone, opiomelanocortin prepropeptide]",proopiomelanocortin,gene with protein product,2p23.3,Disease-causing germline mutation(s) in,Assessed,[PMID:24354022],176830,ENSG00000115138,,P01189,P01189,HGNC:9201 +GARD:0010824,Orphanet,189427,ORPHA:189427,2,GNAS,"[G protein subunit alpha S, GNASXL, GPSA, NESP, NESP55, SCG6, SgVI, secretogranin VI]",GNAS complex locus,gene with protein product,20q13.32,Disease-causing somatic mutation(s) in,Assessed,[PMID:12727968],139320,ENSG00000087460,,O95467; P63092; P84996; Q5JWF2,P63092,HGNC:4392 +GARD:0010824,Orphanet,189427,ORPHA:189427,2,ARMC5,[FLJ13063],armadillo repeat containing 5,gene with protein product,16p11.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24283224],615549,ENSG00000140691,,Q96C12,Q96C12,HGNC:25781 +GARD:0010829,Orphanet,99880,ORPHA:99880,1,CDC73,"[FIHP, Paf1/RNA polymerase II complex component, parafibromin]",cell division cycle 73,gene with protein product,1q31.2,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:12434154],607393,ENSG00000134371,,Q6P1J9,Q6P1J9,HGNC:16783 +GARD:0010867,Orphanet,867,ORPHA:867,1,CYLD,"[KIAA0849, USPL2, ubiquitin specific peptidase like 2]",CYLD lysine 63 deubiquitinase,gene with protein product,16q12.1,Disease-causing germline mutation(s) in,Assessed,[PMID:19462465],605018,ENSG00000083799,,Q9NQC7,Q9NQC7,HGNC:2584 +GARD:0010871,Orphanet,309331,ORPHA:309331,1,SLC17A5,"[AST, ISSD, NSD, SD, SIALIN, SLD]",solute carrier family 17 member 5,gene with protein product,6q13,Disease-causing germline mutation(s) in,Assessed,[PMID:20301643],604322,ENSG00000119899,1006,Q9NRA2,Q9NRA2,HGNC:10933 +GARD:0010878,Orphanet,306658,ORPHA:306658,1,SAMD9,"[FLJ20073, KIAA2004]",sterile alpha motif domain containing 9,gene with protein product,7q21.2,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:16960814, PMID:18094730]",610456,ENSG00000205413,,Q5K651,,HGNC:1348 +GARD:0010879,Orphanet,306661,ORPHA:306661,3,GALNT3,"[GalNAc-T3, HFTC, HHS, polypeptide GalNAc transferase 3]",polypeptide N-acetylgalactosaminyltransferase 3,gene with protein product,2q24.3,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:15133511, PMID:21347749]",601756,ENSG00000115339,,Q14435,Q14435,HGNC:4125 +GARD:0010879,Orphanet,306661,ORPHA:306661,3,KL,"[KLA, alpha-klotho]",klotho,gene with protein product,13q13.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:17710231, PMID:22142751]",604824,ENSG00000133116,3146,Q9UEF7,Q9UEF7,HGNC:6344 +GARD:0010879,Orphanet,306661,ORPHA:306661,3,FGF23,,fibroblast growth factor 23,gene with protein product,12p13.32,Disease-causing germline mutation(s) (loss of function) in,Assessed,"[PMID:15590700, PMID:19188744, PMID:22142751]",605380,ENSG00000118972,,Q9GZV9,Q9GZV9,HGNC:3680 +GARD:0010880,Orphanet+OMIM,613829,OMIM:613829,1,CRX,"[CRD, LCA7, OTX3, orthodenticle homeobox 3]",cone-rod homeobox,gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,602225,ENSG00000105392,,O43186,,HGNC:2383 +GARD:0010881,Orphanet+OMIM,613835,OMIM:613835,1,CRB1,[LCA8],crumbs cell polarity complex component 1,gene with protein product,1q31.3,The molecular basis of the disorder is known,Unknown,,604210,ENSG00000134376,,P82279,,HGNC:2343 +GARD:0010882,Orphanet+OMIM,612712,OMIM:612712,1,RDH12,"[FLJ30273, LCA13, RP53, SDR7C2, member 2, short chain dehydrogenase/reductase family 7C]",retinol dehydrogenase 12,gene with protein product,14q24.1,The molecular basis of the disorder is known,Unknown,,608830,ENSG00000139988,,Q96NR8,Q96NR8,HGNC:19977 +GARD:0010883,Orphanet+OMIM,613341,OMIM:613341,1,LRAT,"[LCA14, phosphatidylcholine--retinol O-acyltransferase]",lecithin retinol acyltransferase,gene with protein product,4q32.1,The molecular basis of the disorder is known,Unknown,,604863,ENSG00000121207,,O95237,O95237,HGNC:6685 +GARD:0010884,Orphanet+OMIM,613843,OMIM:613843,1,TULP1,"[LCA15, TUBL1]",TUB like protein 1,gene with protein product,6p21.31,The molecular basis of the disorder is known,Unknown,,602280,ENSG00000112041,,O00294,,HGNC:12423 +GARD:0010885,Orphanet+OMIM,614186,OMIM:614186,1,KCNJ13,"[Kir1.4, Kir7.1, LCA16]",potassium inwardly rectifying channel subfamily J member 13,gene with protein product,2q37.1,The molecular basis of the disorder is known,Unknown,,603208,ENSG00000115474,objectId:443,O60928,,HGNC:6259 +GARD:0010887,Orphanet,488265,ORPHA:488265,1,MET,"[DFNB97, HGFR, RCCP2, hepatocyte growth factor receptor]","MET proto-oncogene, receptor tyrosine kinase",gene with protein product,7q31,Disease-causing germline mutation(s) (gain of function) in,Assessed,"[PMID:1270474, PMID:26637977, PMID:8276381, PMID:9234973]",164860,ENSG00000105976,1815,P08581,P08581,HGNC:7029 +GARD:0010889,Orphanet,73229,ORPHA:73229,1,COL4A1,,collagen type IV alpha 1 chain,gene with protein product,13q34,Disease-causing germline mutation(s) in,Assessed,"[PMID:18160688, PMID:20301768]",120130,ENSG00000187498,,P02462,P02462,HGNC:2202 +GARD:0010899,Orphanet,52430,ORPHA:52430,3,HNRNPA2B1,,heterogeneous nuclear ribonucleoprotein A2/B1,gene with protein product,7p15.2,Disease-causing germline mutation(s) in,Assessed,[PMID:23455423],600124,ENSG00000122566,,P22626,P22626,HGNC:5033 +GARD:0010899,Orphanet,52430,ORPHA:52430,3,VCP,"[CDC48, IBMPFD, TERA, p97, transitional endoplasmic reticulum ATPase]",valosin containing protein,gene with protein product,9p13.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:15034582, PMID:20301649]",601023,ENSG00000165280,,P55072,P55072,HGNC:12666 +GARD:0010899,Orphanet,52430,ORPHA:52430,3,HNRNPA1,"[ALS20, hnRNP-A1, hnRNPA1]",heterogeneous nuclear ribonucleoprotein A1,gene with protein product,12q13.13,Disease-causing germline mutation(s) in,Assessed,[PMID:23455423],164017,ENSG00000135486,,P09651,P09651,HGNC:5031 +GARD:0010900,Orphanet,26106,ORPHA:26106,3,MAP3K6,"[ASK2, MAPKKK6, MEKK6, apoptosis signal regulating kinase 2]",mitogen-activated protein kinase kinase kinase 6,gene with protein product,1p36.11,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:25340522],604468,ENSG00000142733,2081,O95382,O95382,HGNC:6858 +GARD:0010900,Orphanet,26106,ORPHA:26106,3,CDH1,"[CD324, E-Cadherin, uvomorulin]",cadherin 1,gene with protein product,16q22.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:19168852, PMID:20301318]",192090,ENSG00000039068,,P12830,P12830,HGNC:1748 +GARD:0010900,Orphanet,26106,ORPHA:26106,3,CTNNA1,"[CAP102, alpha-E-catenin]",catenin alpha 1,gene with protein product,5q31.2,Candidate gene tested in,Not yet assessed,"[PMID:23208944, PMID:26049741, PMID:26182300]",116805,ENSG00000044115,,P35221,P35221,HGNC:2509 +GARD:0010905,Orphanet,1775,ORPHA:1775,12,NPM1,"['nucleophosmin/nucleoplasmin family, member 1', B23, NPM, Nucleophosmin/nucleoplasmin family, member 1, Numatrin, nucleolar phosphoprotein B23, numatrin]",nucleophosmin 1,gene with protein product,5q35.1,Disease-causing germline mutation(s) (loss of function) in,Assessed,[PMID:31570891],164040,ENSG00000181163,,P06748,P06748,HGNC:7910 +GARD:0010905,Orphanet,1775,ORPHA:1775,12,TINF2,[TIN2],TERF1 interacting nuclear factor 2,gene with protein product,14q12,Disease-causing germline mutation(s) in,Assessed,[PMID:20301779],604319,ENSG00000092330,,Q9BSI4,Q9BSI4,HGNC:11824 +GARD:0010905,Orphanet,1775,ORPHA:1775,12,TERT,"[EST2, TCS1, TP2, TRT, hEST2]",telomerase reverse transcriptase,gene with protein product,5p15.33,Disease-causing germline mutation(s) in,Assessed,[PMID:20301779],187270,ENSG00000164362,,O14746,O14746,HGNC:11730 +GARD:0010905,Orphanet,1775,ORPHA:1775,12,DKC1,"[Cbf5, H/ACA ribonucleoprotein complex subunit 4, NAP57, NOLA4, XAP101, dyskerin]",dyskerin pseudouridine synthase 1,gene with protein product,Xq28,Disease-causing germline mutation(s) in,Assessed,[PMID:20301779],300126,ENSG00000130826,,O60832,O60832,HGNC:2890 +GARD:0010905,Orphanet,1775,ORPHA:1775,12,PARN,"[DAN, deadenylation nuclease]",poly(A)-specific ribonuclease,gene with protein product,16p13.12,Disease-causing germline mutation(s) in,Assessed,[PMID:25893599],604212,ENSG00000140694,,O95453,O95453,HGNC:8609 +GARD:0010905,Orphanet,1775,ORPHA:1775,12,USB1,"[FLJ13154, HVSL motif containing 1, HVSL1, Mpn1, U six biogenesis 1, mutated in poikiloderma with neutropenia protein 1, poikiloderma with neutropenia]",U6 snRNA biogenesis phosphodiesterase 1,gene with protein product,16q21,Disease-causing germline mutation(s) in,Assessed,"[PMID:20817924, PMID:22160078]",613276,ENSG00000103005,,Q9BQ65,,HGNC:25792 +GARD:0010905,Orphanet,1775,ORPHA:1775,12,WRAP53,"[FLJ10385, TCAB1, WD-encoding RNA antisense to p53, telomerase cajal body protein 1]",WD repeat containing antisense to TP53,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,[PMID:20301779],612661,ENSG00000141499,,Q9BUR4,Q9BUR4,HGNC:25522 +GARD:0010905,Orphanet,1775,ORPHA:1775,12,RTEL1,"[DKFZP434C013, KIAA1088, NHL, RTEL, bK3184A7.3]",regulator of telomere elongation helicase 1,gene with protein product,20q13.33,Disease-causing germline mutation(s) in,Assessed,[PMID:23453664],608833,ENSG00000258366,,Q9NZ71,Q9NZ71,HGNC:15888 +GARD:0010905,Orphanet,1775,ORPHA:1775,12,CTC1,"[AAF132, Conserved telomere capping protein 1, Conserved telomere maintenance component 1, FLJ22170, alpha accessory factor 132, conserved telomere capping protein 1, conserved telomere maintenance component 1]",CST telomere replication complex component 1,gene with protein product,17p13.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:20301779, PMID:22532422, PMID:22556055]",613129,ENSG00000178971,,Q2NKJ3,,HGNC:26169 +GARD:0010905,Orphanet,1775,ORPHA:1775,12,TERC,"[SCARNA19, TR, TRC3, hTR, small Cajal body-specific RNA 19]",telomerase RNA component,Non-coding RNA,3q26.2,Disease-causing germline mutation(s) in,Assessed,[PMID:20301779],602322,ENSG00000270141,,,,HGNC:11727 +GARD:0010905,Orphanet,1775,ORPHA:1775,12,NOP10,"[MGC70651, NOP10P, homolog of yeast Nop10p]",NOP10 ribonucleoprotein,gene with protein product,15q14,Disease-causing germline mutation(s) in,Assessed,[PMID:20301779],606471,ENSG00000182117,,Q9NPE3,Q9NPE3,HGNC:14378 +GARD:0010905,Orphanet,1775,ORPHA:1775,12,NHP2,[FLJ20479],NHP2 ribonucleoprotein,gene with protein product,5q35.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20301779],606470,ENSG00000145912,,Q9NX24,Q9NX24,HGNC:14377 +GARD:0010906,Orphanet,189439,ORPHA:189439,4,PRKAR1A,"[CNC1, Carney complex type 1]",protein kinase cAMP-dependent type I regulatory subunit alpha,gene with protein product,17q24.2,Disease-causing germline mutation(s) in,Assessed,[PMID:24805858],188830,ENSG00000108946,1472,P10644,P10644,HGNC:9388 +GARD:0010906,Orphanet,189439,ORPHA:189439,4,PDE8B,"[High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B]",phosphodiesterase 8B,gene with protein product,5q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:18431404],603390,ENSG00000113231,1308,O95263,O95263,HGNC:8794 +GARD:0010906,Orphanet,189439,ORPHA:189439,4,PDE11A,"[Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A]",phosphodiesterase 11A,gene with protein product,2q31.2,Disease-causing germline mutation(s) in,Assessed,[PMID:16767104],604961,ENSG00000128655,1311,Q9HCR9,Q9HCR9,HGNC:8773 +GARD:0010906,Orphanet,189439,ORPHA:189439,4,PRKACA,[PKACa],protein kinase cAMP-activated catalytic subunit alpha,gene with protein product,19p13.12,Role in the phenotype of,Assessed,[PMID:24571724],601639,ENSG00000072062,1476,P17612,P17612,HGNC:9380 +GARD:0010907,Orphanet,317476,ORPHA:317476,1,MAGT1,"[DKFZp564K142, IAP, MRX95, OST3B, SLC58A1, oligosaccharyltransferase 3 homolog B (S. cerevisiae)]",magnesium transporter 1,gene with protein product,Xq21.1,Disease-causing germline mutation(s) in,Assessed,,300715,ENSG00000102158,3039,Q9H0U3,Q9H0U3,HGNC:28880 +GARD:0010909,Orphanet,99000,ORPHA:99000,4,IMPG2,"[IPM200, RP56, SPACRCAN]",interphotoreceptor matrix proteoglycan 2,gene with protein product,3q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:25085631],607056,ENSG00000081148,,Q9BZV3,,HGNC:18362 +GARD:0010909,Orphanet,99000,ORPHA:99000,4,PRPH2,"[CACD2, TSPAN22, rd2, retinal peripherin]",peripherin 2,gene with protein product,6p21.1,Disease-causing germline mutation(s) in,Assessed,"[PMID:10854112, PMID:9338584]",179605,ENSG00000112619,,P23942,,HGNC:9942 +GARD:0010909,Orphanet,99000,ORPHA:99000,4,IMPG1,"[GP147, IPM150]",interphotoreceptor matrix proteoglycan 1,gene with protein product,6q14.1,Disease-causing germline mutation(s) in,Assessed,[PMID:23993198],602870,ENSG00000112706,,Q17R60,,HGNC:6055 +GARD:0010909,Orphanet,99000,ORPHA:99000,4,BEST1,"[BEST, BMD, Best disease, RP50]",bestrophin 1,gene with protein product,11q12.3,Disease-causing germline mutation(s) in,Assessed,[PMID:10854112],607854,ENSG00000167995,,O76090,O76090,HGNC:12703 +GARD:0010914,Orphanet,86820,ORPHA:86820,2,COL2A1,[STL1],collagen type II alpha 1 chain,gene with protein product,12q13.11,Disease-causing germline mutation(s) in,Assessed,[PMID:15930420],120140,ENSG00000139219,,P02458,P02458,HGNC:2200 +GARD:0010914,Orphanet,86820,ORPHA:86820,2,TRPV4,"[CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2, VROAC, osmosensitive transient receptor potential channel 4]",transient receptor potential cation channel subfamily V member 4,gene with protein product,12q24.11,Disease-causing germline mutation(s) (gain of function) in,Assessed,[PMID:27330106],605427,ENSG00000111199,510,Q9HBA0,Q9HBA0,HGNC:18083 +GARD:0010916,Orphanet,538934,ORPHA:538934,1,XIAP,"[IAP-like protein 1, ILP-1, hILP]",X-linked inhibitor of apoptosis,gene with protein product,Xq25,Disease-causing germline mutation(s) in,Assessed,[PMID:20301580],300079,ENSG00000101966,2790,P98170,P98170,HGNC:592 +GARD:0010917,Orphanet,139441,ORPHA:139441,2,UFM1,[bA131P10.1],ubiquitin fold modifier 1,gene with protein product,13q13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:28931644],610553,ENSG00000120686,,P61960,,HGNC:20597 +GARD:0010917,Orphanet,139441,ORPHA:139441,2,TUBB4A,"[Class IVa beta-tubulin, beta-5, class IVa beta-tubulin]",tubulin beta 4A class IVa,gene with protein product,19p13.3,Disease-causing germline mutation(s) in,Assessed,[PMID:23582646],602662,ENSG00000104833,,P04350,P04350,HGNC:20774 +GARD:0010933,Orphanet+OMIM,613402,OMIM:613402,1,PNKP,[PNK],polynucleotide kinase 3'-phosphatase,gene with protein product,19q13.33,The molecular basis of the disorder is known,Unknown,,605610,ENSG00000039650,,Q96T60,Q96T60,HGNC:9154 +GARD:0010934,Orphanet,228423,ORPHA:228423,1,GATA2,[NFE1B],GATA binding protein 2,gene with protein product,3q21.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:21670465, PMID:21765025]",137295,ENSG00000179348,,P23769,P23769,HGNC:4171 +GARD:0010935,Orphanet,261250,ORPHA:261250,1,ANKRD11,"[LZ16, T13]",ankyrin repeat domain containing 11,gene with protein product,16q24.3,Role in the phenotype of,Not yet assessed,,611192,ENSG00000167522,,Q6UB99,,HGNC:21316 +GARD:0010936,Orphanet,261279,ORPHA:261279,1,TBX4,,T-box transcription factor 4,gene with protein product,17q23.2,Role in the phenotype of,Assessed,[PMID:21271665],601719,ENSG00000121075,,P57082,,HGNC:11603 +GARD:0010937,Orphanet+OMIM,613327,OMIM:613327,1,CAVIN1,"[CGL4, cavin-1, congenital generalized lipodystrophy 4]",caveolae associated protein 1,gene with protein product,17q21.2,The molecular basis of the disorder is known,Unknown,,603198,ENSG00000177469,,Q6NZI2,Q6NZI2,HGNC:9688 +GARD:0010939,Orphanet,140944,ORPHA:140944,1,PIK3CA,[PI3K],"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",gene with protein product,3q26.32,Disease-causing somatic mutation(s) in,Assessed,[PMID:22658544],171834,ENSG00000121879,2153,P42336,P42336,HGNC:8975 +GARD:0010942,Orphanet,238763,ORPHA:238763,1,LTBP2,,latent transforming growth factor beta binding protein 2,gene with protein product,14q24.3,Disease-causing germline mutation(s) in,Assessed,"[PMID:20179738, PMID:22025892]",602091,ENSG00000119681,,Q14767,Q14767,HGNC:6715 +GARD:0010943,Orphanet,238769,ORPHA:238769,1,HNRNPU,"[FLJ30202, FLJ37978, SAF-A, scaffold attachment factor A]",heterogeneous nuclear ribonucleoprotein U,gene with protein product,1q44,Role in the phenotype of,Assessed,[PMID:28283832],602869,ENSG00000153187,,Q00839,Q00839,HGNC:5048 +GARD:0010944,Orphanet,464443,ORPHA:464443,1,COG6,"[COD2, KIAA1134]",component of oligomeric golgi complex 6,gene with protein product,13q14.11,Disease-causing germline mutation(s) in,Assessed,"[PMID:23430903, PMID:26260076]",606977,ENSG00000133103,,Q9Y2V7,Q9Y2V7,HGNC:18621 +GARD:0010945,Orphanet,391677,ORPHA:391677,1,NBAS,[NAG],NBAS subunit of NRZ tethering complex,gene with protein product,2p24.3,Disease-causing germline mutation(s) in,Assessed,[PMID:20577004],608025,ENSG00000151779,,A2RRP1,A2RRP1,HGNC:15625 diff --git a/RDAS.GARD/src/GARD_phenotypes.csv b/RDAS.GARD/src/GARD_phenotypes.csv new file mode 100644 index 0000000..b2a8705 --- /dev/null +++ b/RDAS.GARD/src/GARD_phenotypes.csv @@ -0,0 +1,112162 @@ +GardID,DataSource,SourceID,SourceLabelID,HPOCount,HPOId,HPOTerm,HPOFrequency,Evidence,Sex,Onset,Modifier,Reference,Online,ValidationStatus +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000201,Pierre-Robin sequence,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000275,Narrow face,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000356,Abnormality of the outer ear,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000444,Convex nasal ridge,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000589,Coloboma,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000620,Dacryocystitis,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000711,Restlessness,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000742,Self-mutilation,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0001238,Slender finger,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0001776,Bilateral talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0002011,Morphological central nervous system abnormality,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0002213,Fine hair,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0002591,Polyphagia,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0002761,Generalized joint laxity,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0002815,Abnormality of the knee,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0002982,Tibial bowing,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0003241,External genital hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0003272,Abnormal hip bone morphology,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0004482,Relative macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0005469,Flat occiput,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0006349,Agenesis of permanent teeth,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0008897,Postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0010055,Broad hallux,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0011339,Abnormality of upper lip vermillion,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0011470,Nasogastric tube feeding in infancy,Frequent (79-30%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0012428,Prominent calcaneus,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0020045,Esodeviation,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017204,Orphanet,251028,ORPHA:251028,82,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,"[PMID:19668335, PMID:21343628]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0000492,Abnormal eyelid morphology,Occasional (29-5%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0000514,Slow saccadic eye movements,Frequent (79-30%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0000605,Supranuclear gaze palsy,Very frequent (99-80%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0001250,Seizure,Excluded (0%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0001258,Spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0002166,Impaired vibration sensation in the lower limbs,Occasional (29-5%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0002497,Spastic ataxia,Frequent (79-30%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0002921,Abnormality of the cerebrospinal fluid,Excluded (0%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0003700,Generalized amyotrophy,Excluded (0%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0006961,Jerky head movements,Frequent (79-30%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0008969,Leg muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017206,Orphanet,251282,ORPHA:251282,26,HP:0010831,Impaired proprioception,Occasional (29-5%),TAS,,,,"[PMID:11774073, PMID:14083222, PMID:15523628, PMID:22958904]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0000298,Mask-like facies,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0000514,Slow saccadic eye movements,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0000617,Abnormality of ocular smooth pursuit,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0000640,Gaze-evoked nystagmus,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0000641,Dysmetric saccades,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0000815,Hypergonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0002075,Dysdiadochokinesis,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0002198,Dilated fourth ventricle,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0002310,Orofacial dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0003438,Absent Achilles reflex,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0004322,Short stature,Very rare (<4-1%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0006801,Hyperactive deep tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0007141,Sensorimotor neuropathy,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0010544,Vertical nystagmus,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0040010,Small posterior fossa,Occasional (29-5%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017209,Orphanet,251347,ORPHA:251347,34,HP:0100953,Enlarged interhemispheric fissure,Frequent (79-30%),TAS,,,,"[PMID:15269180, PMID:15574463, PMID:22863007, PMID:24733832, PMID:29170652, PMID:8445618]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000308,Microretrognathia,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000678,Dental crowding,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000737,Irritability,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0001302,Pachygyria,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0001533,Slender build,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0002126,Polymicrogyria,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0002538,Abnormal cerebral cortex morphology,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0002938,Lumbar hyperlordosis,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0003107,Abnormal circulating cholesterol concentration,Excluded (0%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0007874,Almond-shaped palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0010511,Long toe,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0025406,Asthenia,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017210,Orphanet,251383,ORPHA:251383,35,HP:0100807,Long fingers,Very frequent (99-80%),TAS,,,,"[PMID:19842190, PMID:21129721]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000027,Azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000030,Testicular gonadoblastoma,Occasional (29-5%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000045,Abnormality of the scrotum,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000058,Abnormal labia morphology,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000100,Nephrotic syndrome,Very rare (<4-1%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000133,Gonadal dysgenesis,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000142,Abnormal vagina morphology,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000149,Ovarian gonadoblastoma,Occasional (29-5%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000150,Gonadoblastoma,Frequent (79-30%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000812,Abnormal internal genitalia,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000846,Adrenal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000868,Decreased fertility in females,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0002215,Sparse axillary hair,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0002225,Sparse pubic hair,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0002667,Nephroblastoma,Very rare (<4-1%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0003251,Male infertility,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0008187,Absence of secondary sex characteristics,Occasional (29-5%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0008193,Primary gonadal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0008214,Decreased serum estradiol,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0008232,Elevated circulating follicle stimulating hormone level,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0008665,Clitoral hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0008726,Hypoplasia of the vagina,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0008730,"Female external genitalia in individual with 46,XY karyotype",Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0010464,Streak ovary,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0011969,Elevated circulating luteinizing hormone level,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0012244,Abnormal sex determination,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0012870,Vanishing testis,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0030680,Abnormality of cardiovascular system morphology,Very rare (<4-1%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017211,Orphanet,251510,ORPHA:251510,43,HP:0100779,Urogenital sinus anomaly,Very frequent (99-80%),TAS,,,,"[PMID:10369247, PMID:12786760, PMID:16437021, PMID:17973056, PMID:19246354, PMID:20595937, PMID:21220346, PMID:22051515, PMID:23044873, PMID:24549039, PMID:25247647, PMID:567843, PMID:8240973, PMID:9143505]",y,y +GARD:0017218,Orphanet,254351,ORPHA:254351,12,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017218,Orphanet,254351,ORPHA:254351,12,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0017218,Orphanet,254351,ORPHA:254351,12,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0017218,Orphanet,254351,ORPHA:254351,12,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0017218,Orphanet,254351,ORPHA:254351,12,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0017218,Orphanet,254351,ORPHA:254351,12,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0017218,Orphanet,254351,ORPHA:254351,12,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0017218,Orphanet,254351,ORPHA:254351,12,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0017218,Orphanet,254351,ORPHA:254351,12,HP:0002132,Porencephalic cyst,Occasional (29-5%),TAS,,,,,y,y +GARD:0017218,Orphanet,254351,ORPHA:254351,12,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0017218,Orphanet,254351,ORPHA:254351,12,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0017218,Orphanet,254351,ORPHA:254351,12,HP:0007302,Bipolar affective disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0000205,Pursed lips,Frequent (79-30%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0000289,Broad philtrum,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0000465,Webbed neck,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0001539,Omphalocele,Frequent (79-30%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0001540,Diastasis recti,Frequent (79-30%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0001548,Overgrowth,Occasional (29-5%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0001591,Bell-shaped thorax,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0001601,Laryngomalacia,Frequent (79-30%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0002033,Poor suck,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0002421,Poor head control,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0002673,Coxa valga,Frequent (79-30%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0002884,Hepatoblastoma,Occasional (29-5%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0004887,Respiratory failure requiring assisted ventilation,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0005257,Thoracic hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0006267,Large placenta,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0006665,Coat hanger sign of ribs,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0008897,Postnatal growth retardation,Occasional (29-5%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0011335,Frontal hirsutism,Frequent (79-30%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017219,Orphanet,254519,ORPHA:254519,40,HP:0025336,Delayed ability to sit,Very frequent (99-80%),TAS,,,,[PMID:25689926],y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0004482,Relative macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0031878,Acromicria,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017220,Orphanet,254525,ORPHA:254525,22,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:29659920]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0000884,Prominent sternum,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0001239,Wrist flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0001511,Intrauterine growth retardation,Very rare (<4-1%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0001540,Diastasis recti,Frequent (79-30%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0002263,Exaggerated cupid's bow,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0005257,Thoracic hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0005989,Redundant neck skin,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0006267,Large placenta,Frequent (79-30%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0006665,Coat hanger sign of ribs,Very frequent (99-80%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0010511,Long toe,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0012785,Flexion contracture of finger,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017221,Orphanet,254528,ORPHA:254528,38,HP:0045025,Narrow palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:30232357]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0000735,Impaired social interactions,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0000817,Poor eye contact,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0000826,Precocious puberty,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0003124,Hypercholesterolemia,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0004673,Decreased facial expression,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0004904,Maturity-onset diabetes of the young,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017222,Orphanet,254531,ORPHA:254531,28,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:26395259, PMID:30655999]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0001540,Diastasis recti,Frequent (79-30%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0001548,Overgrowth,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0005257,Thoracic hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0006267,Large placenta,Very frequent (99-80%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0006665,Coat hanger sign of ribs,Very frequent (99-80%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017223,Orphanet,254534,ORPHA:254534,19,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:26377239, PMID:32592473]",y,y +GARD:0017226,Orphanet,254857,ORPHA:254857,11,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:11041514, PMID:1379415, PMID:1645537, PMID:2549452]",y,y +GARD:0017226,Orphanet,254857,ORPHA:254857,11,HP:0000590,Progressive external ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:11041514, PMID:1379415, PMID:1645537, PMID:2549452]",y,y +GARD:0017226,Orphanet,254857,ORPHA:254857,11,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:11041514, PMID:1379415, PMID:1645537, PMID:2549452]",y,y +GARD:0017226,Orphanet,254857,ORPHA:254857,11,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:11041514, PMID:1379415, PMID:1645537, PMID:2549452]",y,y +GARD:0017226,Orphanet,254857,ORPHA:254857,11,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:11041514, PMID:1379415, PMID:1645537, PMID:2549452]",y,y +GARD:0017226,Orphanet,254857,ORPHA:254857,11,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:11041514, PMID:1379415, PMID:1645537, PMID:2549452]",y,y +GARD:0017226,Orphanet,254857,ORPHA:254857,11,HP:0002643,Neonatal respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:11041514, PMID:1379415, PMID:1645537, PMID:2549452]",y,y +GARD:0017226,Orphanet,254857,ORPHA:254857,11,HP:0004900,Severe lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:11041514, PMID:1379415, PMID:1645537, PMID:2549452]",y,y +GARD:0017226,Orphanet,254857,ORPHA:254857,11,HP:0006583,Fatal liver failure in infancy,Occasional (29-5%),TAS,,,,"[PMID:11041514, PMID:1379415, PMID:1645537, PMID:2549452]",y,y +GARD:0017226,Orphanet,254857,ORPHA:254857,11,HP:0008935,Generalized neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:11041514, PMID:1379415, PMID:1645537, PMID:2549452]",y,y +GARD:0017226,Orphanet,254857,ORPHA:254857,11,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:11041514, PMID:1379415, PMID:1645537, PMID:2549452]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0002194,Delayed gross motor development,Very rare (<4-1%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0003200,Ragged-red muscle fibers,Very frequent (99-80%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0003234,Decreased plasma carnitine,Occasional (29-5%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0003688,Cytochrome C oxidase-negative muscle fibers,Very frequent (99-80%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0004900,Severe lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0005946,Ventilator dependence with inability to wean,Occasional (29-5%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0009051,Increased muscle glycogen content,Very frequent (99-80%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0009058,Increased muscle lipid content,Very frequent (99-80%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017227,Orphanet,254864,ORPHA:254864,24,HP:0011923,Decreased activity of mitochondrial complex I,Frequent (79-30%),TAS,,,,"[PMID:1325759, PMID:19720722, PMID:21194154, PMID:21931168, PMID:3025776, PMID:4273245, PMID:6312869]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0000590,Progressive external ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0000597,Ophthalmoparesis,Occasional (29-5%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0001283,Bulbar palsy,Occasional (29-5%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0001488,Bilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0002333,Motor deterioration,Very frequent (99-80%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0003198,Myopathy,Obligate (100%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0003698,Difficulty standing,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0005946,Ventilator dependence with inability to wean,Occasional (29-5%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0006532,Recurrent pneumonia,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0007105,Infantile encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0007269,Spinal muscular atrophy,Very rare (<4-1%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0008610,Infantile sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0008625,Severe sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0009073,Progressive proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0012432,Chronic fatigue,Frequent (79-30%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0030319,Weakness of facial musculature,Occasional (29-5%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017228,Orphanet,254875,ORPHA:254875,39,HP:0100543,Cognitive impairment,Excluded (0%),TAS,,,,"[PMID:23230576, PMID:23932787, PMID:23968935, PMID:29735374]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0000602,Ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0001123,Visual field defect,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0001283,Bulbar palsy,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0002313,Spastic paraparesis,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0002590,Paralytic ileus,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0002943,Thoracic scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0003380,Decreased number of peripheral myelinated nerve fibers,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0003484,Upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0005216,Impaired mastication,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0007641,Dyschromatopsia,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0012696,Abnormal thalamic MRI signal intensity,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0012707,Elevated brain lactate level by MRS,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0012747,Abnormal brainstem MRI signal intensity,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0020049,Exodeviation,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0031629,Impaired tandem gait,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017234,Orphanet,254930,ORPHA:254930,42,HP:0200136,Oral-pharyngeal dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20598281, PMID:24198383, PMID:24424123, PMID:28091420]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0002365,Hypoplasia of the brainstem,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0002648,Abnormality of calvarial morphology,Frequent (79-30%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0002928,Decreased activity of the pyruvate dehydrogenase complex,Frequent (79-30%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0006970,Periventricular leukomalacia,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0007016,Corticospinal tract hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0007109,Periventricular cysts,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0007165,Periventricular heterotopia,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0007772,Impaired smooth pursuit,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017236,Orphanet,255138,ORPHA:255138,23,HP:0200012,Short corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:15138885, PMID:18164639, PMID:26865159]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0001264,Spastic diplegia,Frequent (79-30%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0001317,Abnormal cerebellum morphology,Very rare (<4-1%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0002059,Cerebral atrophy,Very rare (<4-1%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0002134,Abnormality of the basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0002151,Increased serum lactate,Very frequent (99-80%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0002273,Tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0002363,Abnormal brainstem morphology,Very rare (<4-1%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0002490,Increased CSF lactate,Very frequent (99-80%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0002928,Decreased activity of the pyruvate dehydrogenase complex,Frequent (79-30%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0007109,Periventricular cysts,Occasional (29-5%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0010915,Abnormal circulating pyruvate family amino acid concentration,Frequent (79-30%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017237,Orphanet,255182,ORPHA:255182,23,HP:0500231,Abnormal CSF pyruvate family amino acid concentration,Very frequent (99-80%),TAS,,,,"[PMID:22079328, PMID:25087164]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0000580,Pigmentary retinopathy,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0000602,Ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0000998,Hypertrichosis,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0001941,Acidosis,Occasional (29-5%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0002104,Apnea,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0002415,Leukodystrophy,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0002490,Increased CSF lactate,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0002928,Decreased activity of the pyruvate dehydrogenase complex,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0007183,Focal T2 hyperintense basal ganglia lesion,Very frequent (99-80%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0008972,Decreased activity of mitochondrial respiratory chain,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017238,Orphanet,255241,ORPHA:255241,33,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:10230482, PMID:1492653, PMID:17209980, PMID:7625545]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0000100,Nephrotic syndrome,Very frequent (99-80%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0001947,Renal tubular acidosis,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0001970,Tubulointerstitial nephritis,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0002572,Episodic vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0003073,Hypoalbuminemia,Very frequent (99-80%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0004900,Severe lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0007183,Focal T2 hyperintense basal ganglia lesion,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0007334,Bilateral tonic-clonic seizure with focal onset,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0007430,Generalized edema,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0007965,Undetectable visual evoked potentials,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0011193,EEG with focal spikes,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0012597,Heavy proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017239,Orphanet,255249,ORPHA:255249,22,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:26425749, PMID:26725255, PMID:28515908]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0000995,Melanocytic nevus,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0001863,Toe clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0002002,Deep philtrum,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0002263,Exaggerated cupid's bow,Very frequent (99-80%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0005338,Sparse lateral eyebrow,Frequent (79-30%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017241,Orphanet,261120,ORPHA:261120,25,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:21744488, PMID:8010711]",y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000276,Long face,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000341,Narrow forehead,Frequent (79-30%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000444,Convex nasal ridge,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000717,Autism,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0001061,Acne,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:21504564],y,y +GARD:0017242,Orphanet,261190,ORPHA:261190,28,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,[PMID:21504564],y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000308,Microretrognathia,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000389,Chronic otitis media,Very frequent (99-80%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0003189,Long nose,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0005285,Absent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0007565,Multiple cafe-au-lait spots,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0009623,Proximal placement of thumb,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0100033,Tics,Occasional (29-5%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017243,Orphanet,261211,ORPHA:261211,43,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,"[PMID:12011165, PMID:19676056]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0000104,Renal agenesis,Frequent (79-30%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0000294,Low anterior hairline,Very frequent (99-80%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0000300,Oval face,Very frequent (99-80%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0000510,Rod-cone dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0000556,Retinal dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0002149,Hyperuricemia,Frequent (79-30%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0002251,Aganglionic megacolon,Frequent (79-30%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0011351,Moderate receptive language delay,Frequent (79-30%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0012450,Chronic constipation,Frequent (79-30%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017244,Orphanet,261222,ORPHA:261222,26,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:19079260, PMID:19755429, PMID:19966786, PMID:20799338, http://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf]",y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000276,Long face,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000363,Abnormal earlobe morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000657,Oculomotor apraxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000716,Depression,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001660,Truncus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001802,Absent toenail,Frequent (79-30%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001817,Absent fingernail,Frequent (79-30%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0002463,Language impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0002664,Neoplasm,Frequent (79-30%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0002673,Coxa valga,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0009465,Ulnar deviation of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0009795,Branchial fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0010296,Ankyloglossia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0100033,Tics,Occasional (29-5%),TAS,,,,,y,y +GARD:0017245,Orphanet,261330,ORPHA:261330,60,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0000846,Adrenal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0001993,Ketoacidosis,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0003199,Decreased muscle mass,Frequent (79-30%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0003738,Exercise-induced myalgia,Occasional (29-5%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0003750,Increased muscle fatiguability,Occasional (29-5%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0005949,Apneic episodes in infancy,Occasional (29-5%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0008207,Primary adrenal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0008981,Calf muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017246,Orphanet,261476,ORPHA:261476,32,HP:0040019,Finger clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:200232, PMID:25917374, PMID:2852474, PMID:2883886, PMID:3766905, PMID:6249182, PMID:6315281, PMID:7750200, PMID:9188656]",y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0001620,High pitched voice,Very frequent (99-80%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0001956,Truncal obesity,Frequent (79-30%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0002231,Sparse body hair,Frequent (79-30%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0008209,Premature ovarian insufficiency,Occasional (29-5%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,[PMID:19844254],y,y +GARD:0017247,Orphanet,261483,ORPHA:261483,20,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,[PMID:19844254],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000034,Hydrocele testis,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000041,Chordee,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000048,Bifid scrotum,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000054,Micropenis,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000075,Renal duplication,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000125,Pelvic kidney,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000193,Bifid uvula,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000437,Depressed nasal tip,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000480,Retinal coloboma,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000692,Tooth malposition,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0000932,Abnormal posterior cranial fossa morphology,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001153,Septate vagina,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001159,Syndactyly,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001320,Cerebellar vermis hypoplasia,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001321,Cerebellar hypoplasia,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001492,Axenfeld anomaly,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001641,Abnormal pulmonary valve morphology,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001746,Asplenia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001847,Long hallux,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001848,Calcaneovalgus deformity,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002126,Polymicrogyria,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002251,Aganglionic megacolon,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002335,Agenesis of cerebellar vermis,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002465,Poor speech,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002474,Expressive language delay,Very frequent (99-80%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002572,Episodic vomiting,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002607,Bowel incontinence,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002777,Tracheal stenosis,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0003763,Bruxism,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0004414,Abnormality of the pulmonary artery,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0004961,Pulmonary artery sling,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0005484,Secondary microcephaly,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0006482,Abnormality of dental morphology,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0006956,Dilation of lateral ventricles,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0007048,Large basal ganglia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0007099,Chiari type I malformation,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0007165,Periventricular heterotopia,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0007270,Atypical absence seizure,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0009487,Ulnar deviation of the hand,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0009765,Low hanging columella,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0009909,Uplifted earlobe,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0010055,Broad hallux,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0010511,Long toe,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0011229,Broad eyebrow,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0011317,Right unicoronal synostosis,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0011451,Primary microcephaly,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0012081,Enlarged cerebellum,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0012430,Cerebral white matter hypoplasia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0025100,Abnormal hippocampus morphology,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0030264,Webbed penis,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0040082,Happy demeanor,Very frequent (99-80%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0040331,Focal hypointensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0410005,Cleft hard palate,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017248,Orphanet,261537,ORPHA:261537,129,HP:0410031,Submucous cleft of soft and hard palate,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000034,Hydrocele testis,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000041,Chordee,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000048,Bifid scrotum,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000054,Micropenis,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000075,Renal duplication,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000125,Pelvic kidney,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000193,Bifid uvula,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000286,Epicanthus,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000437,Depressed nasal tip,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000480,Retinal coloboma,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000539,Abnormality of refraction,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000615,Abnormal pupil morphology,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000692,Tooth malposition,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0000932,Abnormal posterior cranial fossa morphology,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001089,Iris atrophy,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001153,Septate vagina,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001159,Syndactyly,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001320,Cerebellar vermis hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001321,Cerebellar hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001492,Axenfeld anomaly,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001641,Abnormal pulmonary valve morphology,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001746,Asplenia,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001847,Long hallux,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001848,Calcaneovalgus deformity,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002126,Polymicrogyria,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002251,Aganglionic megacolon,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002335,Agenesis of cerebellar vermis,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002465,Poor speech,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002474,Expressive language delay,Very frequent (99-80%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002553,Highly arched eyebrow,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002572,Episodic vomiting,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002607,Bowel incontinence,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002777,Tracheal stenosis,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0003763,Bruxism,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0004414,Abnormality of the pulmonary artery,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0004961,Pulmonary artery sling,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0005484,Secondary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0005580,Duplication of renal pelvis,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0006482,Abnormality of dental morphology,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0006956,Dilation of lateral ventricles,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0007048,Large basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0007099,Chiari type I malformation,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0007165,Periventricular heterotopia,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0007270,Atypical absence seizure,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0009487,Ulnar deviation of the hand,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0009765,Low hanging columella,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0009909,Uplifted earlobe,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0009918,Ectopia pupillae,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0010055,Broad hallux,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0010511,Long toe,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0011120,Concave nasal ridge,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0011229,Broad eyebrow,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0011317,Right unicoronal synostosis,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0011451,Primary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0011886,Hyphema,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0012081,Enlarged cerebellum,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0012430,Cerebral white matter hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0025100,Abnormal hippocampus morphology,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0030264,Webbed penis,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0030303,Hypoplastic anterior commissure,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0030791,Abnormal jaw morphology,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0040082,Happy demeanor,Very frequent (99-80%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0040331,Focal hypointensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0410005,Cleft hard palate,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017249,Orphanet,261552,ORPHA:261552,147,HP:0410031,Submucous cleft of soft and hard palate,Very rare (<4-1%),TAS,,,,"[PMID:17932455, PMID:20301585, PMID:25899569, PMID:27831545]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000078,Abnormality of the genital system,Frequent (79-30%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000164,Abnormality of the dentition,Very rare (<4-1%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000179,Thick lower lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000248,Brachycephaly,Very rare (<4-1%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000519,Developmental cataract,Very rare (<4-1%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000540,Hypermetropia,Very rare (<4-1%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000695,Natal tooth,Very rare (<4-1%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0000974,Hyperextensible skin,Very rare (<4-1%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0001182,Tapered finger,Very rare (<4-1%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0001252,Hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0001357,Plagiocephaly,Very rare (<4-1%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0001520,Large for gestational age,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0001537,Umbilical hernia,Very rare (<4-1%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0001548,Overgrowth,Frequent (79-30%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0002023,Anal atresia,Very rare (<4-1%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0002171,Gliosis,Very rare (<4-1%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0002779,Tracheomalacia,Very rare (<4-1%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0006863,Severe expressive language delay,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0009909,Uplifted earlobe,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0011351,Moderate receptive language delay,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0200005,Abnormal shape of the palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017253,Orphanet,261652,ORPHA:261652,49,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:22670141, PMID:23232695, PMID:27123477]",y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0000819,Diabetes mellitus,Excluded (0%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0000821,Hypothyroidism,Excluded (0%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0001663,Ventricular fibrillation,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0001714,Ventricular hypertrophy,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0003199,Decreased muscle mass,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0003484,Upper limb muscle weakness,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0003547,Shoulder girdle muscle weakness,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0003722,Neck flexor weakness,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0004756,Ventricular tachycardia,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0005144,Ventricular septal hypertrophy,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0009023,Abdominal wall muscle weakness,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0010872,T-wave inversion,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0011712,Right bundle branch block,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0012251,ST segment elevation,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0012270,Decreased muscle glycogen content,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0031319,Cardiomyocyte hypertrophy,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0040014,Increased mitochondrial number,Frequent (79-30%),TAS,,,,[PMID:20357282],y,y +GARD:0017254,Orphanet,263297,ORPHA:263297,25,HP:0040081,Abnormal circulating creatine kinase concentration,Excluded (0%),TAS,,,,[PMID:20357282],y,y +GARD:0017256,Orphanet,263458,ORPHA:263458,9,HP:0000825,Hyperinsulinemic hypoglycemia,Obligate (100%),TAS,,,,"[PMID:15161766, PMID:21967988]",y,y +GARD:0017256,Orphanet,263458,ORPHA:263458,9,HP:0000855,Insulin resistance,Occasional (29-5%),TAS,,,,"[PMID:15161766, PMID:21967988]",y,y +GARD:0017256,Orphanet,263458,ORPHA:263458,9,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:15161766, PMID:21967988]",y,y +GARD:0017256,Orphanet,263458,ORPHA:263458,9,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:15161766, PMID:21967988]",y,y +GARD:0017256,Orphanet,263458,ORPHA:263458,9,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:15161766, PMID:21967988]",y,y +GARD:0017256,Orphanet,263458,ORPHA:263458,9,HP:0001988,Recurrent hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:15161766, PMID:21967988]",y,y +GARD:0017256,Orphanet,263458,ORPHA:263458,9,HP:0008283,Fasting hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:15161766, PMID:21967988]",y,y +GARD:0017256,Orphanet,263458,ORPHA:263458,9,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:15161766, PMID:21967988]",y,y +GARD:0017256,Orphanet,263458,ORPHA:263458,9,HP:0030794,Abnormal C-peptide level,Very frequent (99-80%),TAS,,,,"[PMID:15161766, PMID:21967988]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0000750,Delayed speech and language development,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0000858,Irregular menstruation,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0000876,Oligomenorrhea,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0000939,Osteoporosis,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001252,Hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001394,Cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001395,Hepatic fibrosis,Frequent (79-30%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001396,Cholestasis,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001638,Cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001744,Splenomegaly,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001903,Anemia,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001946,Ketosis,Frequent (79-30%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0001947,Renal tubular acidosis,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0002013,Vomiting,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0002014,Diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0002018,Nausea,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0002040,Esophageal varix,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0002913,Myoglobinuria,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0003124,Hypercholesterolemia,Frequent (79-30%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0003128,Lactic acidosis,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0003162,Fasting hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0003323,Progressive muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0003546,Exercise intolerance,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0004324,Increased body weight,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0006580,Portal fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0012028,Hepatocellular adenoma,Very rare (<4-1%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0030232,Increased sarcoplasmic glycogen,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0030272,Abnormal erythrocyte enzyme level,Very frequent (99-80%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0100607,Dysmenorrhea,Occasional (29-5%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017261,Orphanet,264580,ORPHA:264580,51,HP:0410175,Hyperketonemia,Frequent (79-30%),TAS,,,,"[PMID:17689125, PMID:21634085, PMID:25266922, PMID:28627441, PMID:29360628, PMID:30659246, PMID:33317799]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0000183,Difficulty in tongue movements,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0001285,Spastic tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0002200,Pseudobulbar signs,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0002463,Language impairment,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0006818,4-layered lissencephaly,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0007024,Pseudobulbar paralysis,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0007362,Aplasia/Hypoplasia of the brainstem,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0009878,Cerebellar ataxia associated with quadrupedal gait,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0010522,Dyslexia,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0011099,Spastic hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0011787,Central hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0012429,Aplasia/Hypoplasia of the cerebral white matter,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0012650,Perisylvian polymicrogyria,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:0410011,Abnormality of masticatory muscle,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017269,Orphanet,268940,ORPHA:268940,44,HP:3000047,Abnormal glossopharyngeal nerve morphology,Occasional (29-5%),TAS,,,,"[PMID:15863665, PMID:18991192, PMID:23750890]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0000508,Ptosis,Very rare (<4-1%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0000605,Supranuclear gaze palsy,Occasional (29-5%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0000734,Disinhibition,Occasional (29-5%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0000738,Hallucinations,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0001283,Bulbar palsy,Occasional (29-5%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002127,Abnormal upper motor neuron morphology,Very frequent (99-80%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002145,Frontotemporal dementia,Very frequent (99-80%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002171,Gliosis,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002186,Apraxia,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002273,Tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002283,Global brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002314,Degeneration of the lateral corticospinal tracts,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002366,Abnormal lower motor neuron morphology,Very frequent (99-80%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002385,Paraparesis,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002442,Dyscalculia,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0003700,Generalized amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0007190,Neuronal loss in the cerebral cortex,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0008322,Abnormal mitochondrial morphology,Occasional (29-5%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0008619,Bilateral sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0010549,Weakness due to upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017273,Orphanet,275872,ORPHA:275872,35,HP:0030223,Perseveration,Occasional (29-5%),TAS,,,,"[PMID:16495328, PMID:17036243, PMID:19251628, PMID:21145000, PMID:23303844, PMID:24934289, PMID:25803835]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0000818,Abnormality of the endocrine system,Very frequent (99-80%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0000825,Hyperinsulinemic hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0000843,Hyperparathyroidism,Very frequent (99-80%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0000845,Elevated circulating growth hormone concentration,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0000854,Thyroid adenoma,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0001031,Subcutaneous lipoma,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0002044,Zollinger-Ellison syndrome,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0002893,Pituitary adenoma,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0002897,Parathyroid adenoma,Very frequent (99-80%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0003072,Hypercalcemia,Very frequent (99-80%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0003118,Increased circulating cortisol level,Occasional (29-5%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0003165,Elevated circulating parathyroid hormone level,Very frequent (99-80%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0004398,Peptic ulcer,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0006767,Pituitary prolactin cell adenoma,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0006772,Renal angiomyolipoma,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0006780,Parathyroid carcinoma,Occasional (29-5%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0007449,Confetti-like hypopigmented macules,Occasional (29-5%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0008208,Parathyroid hyperplasia,Very frequent (99-80%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0008256,Adrenocortical adenoma,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0008283,Fasting hyperinsulinemia,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0008291,Pituitary corticotropic cell adenoma,Occasional (29-5%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0010615,Angiofibromas,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0010788,Testicular neoplasm,Occasional (29-5%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0011760,Pituitary growth hormone cell adenoma,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0011761,Pituitary null cell adenoma,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0012030,Increased urinary cortisol level,Occasional (29-5%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0012091,Abnormality of pancreas physiology,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0012197,Insulinoma,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0012334,Extrahepatic cholestasis,Occasional (29-5%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0030079,Cervix cancer,Occasional (29-5%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0030445,Pulmonary carcinoid tumor,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0030688,Increased glucagon level,Occasional (29-5%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0100522,Thymoma,Very rare (<4-1%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0100570,Carcinoid tumor,Occasional (29-5%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0100633,Esophagitis,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017275,Orphanet,276152,ORPHA:276152,39,HP:0100634,Neuroendocrine neoplasm,Frequent (79-30%),TAS,,,,"[PMID:17014705, PMID:17030811, PMID:17519308, PMID:20824794, PMID:20980721, PMID:22129891, PMID:23645327, PMID:24819502]",y,y +GARD:0017276,Orphanet,276183,ORPHA:276183,6,HP:0000027,Azoospermia,Frequent (79-30%),TAS,,,,"[ISBN:0124051952, ISBN:9780124051959]",y,y +GARD:0017276,Orphanet,276183,ORPHA:276183,6,HP:0000029,Testicular atrophy,Frequent (79-30%),TAS,,,,"[ISBN:0124051952, ISBN:9780124051959]",y,y +GARD:0017276,Orphanet,276183,ORPHA:276183,6,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[ISBN:0124051952, ISBN:9780124051959]",y,y +GARD:0017276,Orphanet,276183,ORPHA:276183,6,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[ISBN:0124051952, ISBN:9780124051959]",y,y +GARD:0017276,Orphanet,276183,ORPHA:276183,6,HP:0003251,Male infertility,Frequent (79-30%),TAS,,,,"[ISBN:0124051952, ISBN:9780124051959]",y,y +GARD:0017276,Orphanet,276183,ORPHA:276183,6,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[ISBN:0124051952, ISBN:9780124051959]",y,y +GARD:0017278,Orphanet,276399,ORPHA:276399,14,HP:0000836,Hyperthyroidism,Excluded (0%),TAS,,,,"[PMID:18570301, PMID:21205968, PMID:21266384, PMID:25451712, PMID:26555935, PMID:26577641, PMID:4358956, PMID:6261577, PMID:9345104]",y,y +GARD:0017278,Orphanet,276399,ORPHA:276399,14,HP:0002671,Basal cell carcinoma,Frequent (79-30%),TAS,,,,"[PMID:18570301, PMID:21205968, PMID:21266384, PMID:25451712, PMID:26555935, PMID:26577641, PMID:4358956, PMID:6261577, PMID:9345104]",y,y +GARD:0017278,Orphanet,276399,ORPHA:276399,14,HP:0002890,Thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:18570301, PMID:21205968, PMID:21266384, PMID:25451712, PMID:26555935, PMID:26577641, PMID:4358956, PMID:6261577, PMID:9345104]",y,y +GARD:0017278,Orphanet,276399,ORPHA:276399,14,HP:0005584,Renal cell carcinoma,Frequent (79-30%),TAS,,,,"[PMID:18570301, PMID:21205968, PMID:21266384, PMID:25451712, PMID:26555935, PMID:26577641, PMID:4358956, PMID:6261577, PMID:9345104]",y,y +GARD:0017278,Orphanet,276399,ORPHA:276399,14,HP:0005987,Multinodular goiter,Obligate (100%),TAS,,,,"[PMID:18570301, PMID:21205968, PMID:21266384, PMID:25451712, PMID:26555935, PMID:26577641, PMID:4358956, PMID:6261577, PMID:9345104]",y,y +GARD:0017278,Orphanet,276399,ORPHA:276399,14,HP:0006779,Alveolar rhabdomyosarcoma,Very rare (<4-1%),TAS,,,,"[PMID:18570301, PMID:21205968, PMID:21266384, PMID:25451712, PMID:26555935, PMID:26577641, PMID:4358956, PMID:6261577, PMID:9345104]",y,y +GARD:0017278,Orphanet,276399,ORPHA:276399,14,HP:0007129,Cerebellar medulloblastoma,Very rare (<4-1%),TAS,,,,"[PMID:18570301, PMID:21205968, PMID:21266384, PMID:25451712, PMID:26555935, PMID:26577641, PMID:4358956, PMID:6261577, PMID:9345104]",y,y +GARD:0017278,Orphanet,276399,ORPHA:276399,14,HP:0030071,Medulloepithelioma,Very rare (<4-1%),TAS,,,,"[PMID:18570301, PMID:21205968, PMID:21266384, PMID:25451712, PMID:26555935, PMID:26577641, PMID:4358956, PMID:6261577, PMID:9345104]",y,y +GARD:0017278,Orphanet,276399,ORPHA:276399,14,HP:0030434,Pilomatrixoma,Very rare (<4-1%),TAS,,,,"[PMID:18570301, PMID:21205968, PMID:21266384, PMID:25451712, PMID:26555935, PMID:26577641, PMID:4358956, PMID:6261577, PMID:9345104]",y,y +GARD:0017278,Orphanet,276399,ORPHA:276399,14,HP:0100528,Pleuropulmonary blastoma,Frequent (79-30%),TAS,,,,"[PMID:18570301, PMID:21205968, PMID:21266384, PMID:25451712, PMID:26555935, PMID:26577641, PMID:4358956, PMID:6261577, PMID:9345104]",y,y +GARD:0017278,Orphanet,276399,ORPHA:276399,14,HP:0100615,Ovarian neoplasm,Frequent (79-30%),TAS,,,,"[PMID:18570301, PMID:21205968, PMID:21266384, PMID:25451712, PMID:26555935, PMID:26577641, PMID:4358956, PMID:6261577, PMID:9345104]",y,y +GARD:0017278,Orphanet,276399,ORPHA:276399,14,HP:0100617,Testicular seminoma,Frequent (79-30%),TAS,,,,"[PMID:18570301, PMID:21205968, PMID:21266384, PMID:25451712, PMID:26555935, PMID:26577641, PMID:4358956, PMID:6261577, PMID:9345104]",y,y +GARD:0017278,Orphanet,276399,ORPHA:276399,14,HP:0100619,Sertoli cell neoplasm,Frequent (79-30%),TAS,,,,"[PMID:18570301, PMID:21205968, PMID:21266384, PMID:25451712, PMID:26555935, PMID:26577641, PMID:4358956, PMID:6261577, PMID:9345104]",y,y +GARD:0017278,Orphanet,276399,ORPHA:276399,14,HP:0200063,Colorectal polyposis,Frequent (79-30%),TAS,,,,"[PMID:18570301, PMID:21205968, PMID:21266384, PMID:25451712, PMID:26555935, PMID:26577641, PMID:4358956, PMID:6261577, PMID:9345104]",y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0000308,Microretrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0001704,Tricuspid valve prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0002463,Language impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0006695,Atrioventricular canal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0100444,Curved middle phalanx of the 4th toe,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0100783,Breast aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017280,Orphanet,276413,ORPHA:276413,30,HP:0200008,Intestinal polyposis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000290,Abnormality of the forehead,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000308,Microretrognathia,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0000973,Cutis laxa,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0001262,Excessive daytime somnolence,Frequent (79-30%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0002000,Short columella,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0002362,Shuffling gait,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0002457,Abnormal head movements,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0004415,Pulmonary artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0009931,Enlarged naris,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0010055,Broad hallux,Frequent (79-30%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0010803,Everted upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0025104,Capillary malformation,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0030149,Cardiogenic shock,Occasional (29-5%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017281,Orphanet,276432,ORPHA:276432,41,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,"[PMID:21700266, PMID:28967461]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0001308,Tongue fasciculations,Occasional (29-5%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0002086,Abnormality of the respiratory system,Very rare (<4-1%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0002483,Bulbar signs,Very rare (<4-1%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0002493,Upper motor neuron dysfunction,Excluded (0%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0002540,Inability to walk,Very rare (<4-1%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0003200,Ragged-red muscle fibers,Occasional (29-5%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0003445,EMG: neuropathic changes,Frequent (79-30%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0003449,Cold-induced muscle cramps,Frequent (79-30%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0003458,EMG: myopathic abnormalities,Occasional (29-5%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0003710,Exercise-induced muscle cramps,Frequent (79-30%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0003805,Rimmed vacuoles,Occasional (29-5%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0006886,Impaired distal vibration sensation,Occasional (29-5%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0008954,Intrinsic hand muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0008985,Increased intramuscular fat,Frequent (79-30%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0008997,Proximal muscle weakness in upper limbs,Occasional (29-5%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0031921,Gastrocnemius myalgia,Frequent (79-30%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017282,Orphanet,276435,ORPHA:276435,26,HP:0040132,Abnormal sensory nerve conduction velocity,Occasional (29-5%),TAS,,,,"[PMID:25428574, PMID:26131548, PMID:28434507, PMID:28456383]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0000713,Agitation,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0000825,Hyperinsulinemic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0001069,Episodic hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0001325,Hypoglycemic coma,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0001985,Hypoketotic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0002173,Hypoglycemic seizures,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0002329,Drowsiness,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0002591,Polyphagia,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0003162,Fasting hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0012759,Neurodevelopmental abnormality,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0030796,Increased C-peptide level,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0031084,Excessive insulin response to glucagon test,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0031223,Focal pancreatic islet hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0031224,Diffuse pancreatic islet hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0040299,Decreased circulating free fatty acid level,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017283,Orphanet,276575,ORPHA:276575,28,HP:0100651,Type I diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:21967988, PMID:23275527, PMID:29280746, PMID:29750770, PMID:31414570]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0000713,Agitation,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0000825,Hyperinsulinemic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0001069,Episodic hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0001325,Hypoglycemic coma,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0001985,Hypoketotic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0002173,Hypoglycemic seizures,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0002329,Drowsiness,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0002591,Polyphagia,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0003162,Fasting hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0004924,Abnormal oral glucose tolerance,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0012759,Neurodevelopmental abnormality,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0030796,Increased C-peptide level,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0031084,Excessive insulin response to glucagon test,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0031224,Diffuse pancreatic islet hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017284,Orphanet,276580,ORPHA:276580,29,HP:0100651,Type I diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:31414570, PMID:31464105]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0000826,Precocious puberty,Frequent (79-30%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0000830,Anterior hypopituitarism,Frequent (79-30%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0000863,Central diabetes insipidus,Frequent (79-30%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0001355,Megalencephaly,Occasional (29-5%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0001545,Anteriorly placed anus,Occasional (29-5%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0002418,Abnormal midbrain morphology,Frequent (79-30%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0002474,Expressive language delay,Frequent (79-30%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0003468,Abnormal vertebral morphology,Frequent (79-30%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0004478,Ethmoidal encephalocele,Occasional (29-5%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0007375,Abnormality of the septum pellucidum,Occasional (29-5%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0012110,Hypoplasia of the pons,Occasional (29-5%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0012650,Perisylvian polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0031913,Rhombencephalosynapsis,Occasional (29-5%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017289,Orphanet,280195,ORPHA:280195,24,HP:0100710,Impulsivity,Frequent (79-30%),TAS,,,,"[PMID:20488907, PMID:32103291]",y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0000446,Narrow nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0000453,Choanal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0000871,Panhypopituitarism,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0001028,Hemangioma,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0002247,Duodenal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0003458,EMG: myopathic abnormalities,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0006315,Solitary median maxillary central incisor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0009914,Cyclopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0010644,Midnasal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0017290,Orphanet,280200,ORPHA:280200,35,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0002171,Gliosis,Very frequent (99-80%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0006511,Laryngeal stridor,Frequent (79-30%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0006808,Cerebral hypomyelination,Very frequent (99-80%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0007210,Lower limb amyotrophy,Very frequent (99-80%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0007227,Macrogyria,Frequent (79-30%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0012043,Pendular nystagmus,Frequent (79-30%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0012447,Abnormal myelination,Very frequent (99-80%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0030187,Titubation,Frequent (79-30%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0031954,Dystonic gait,Frequent (79-30%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0040330,Confluent hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017291,Orphanet,280210,ORPHA:280210,27,HP:0430015,Abnormal morphology of musculature of pharynx,Frequent (79-30%),TAS,,,,"[PMID:19396823, PMID:20301361, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0000639,Nystagmus,Excluded (0%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0002478,Progressive spastic quadriplegia,Occasional (29-5%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0003134,Abnormality of peripheral nerve conduction,Very frequent (99-80%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0003429,CNS hypomyelination,Very frequent (99-80%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0007108,Demyelinating peripheral neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0011096,Peripheral demyelination,Very frequent (99-80%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017292,Orphanet,280234,ORPHA:280234,15,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301361, PMID:22343157, PMID:32809357]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000635,Blue irides,Occasional (29-5%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000851,Congenital hypothyroidism,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0000852,Pseudohypoparathyroidism,Obligate (100%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0001831,Short toe,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0002286,Fair hair,Occasional (29-5%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0002297,Red hair,Occasional (29-5%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0002516,Increased intracranial pressure,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0002905,Hyperphosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0003165,Elevated circulating parathyroid hormone level,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0003416,Spinal canal stenosis,Frequent (79-30%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0003456,Low urinary cyclic AMP response to PTH administration,Excluded (0%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0003502,Mild short stature,Frequent (79-30%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0003528,Elevated calcitonin,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0004646,Hypoplasia of the nasal bone,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0005305,Cerebral venous thrombosis,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0005453,Absent/hypoplastic paranasal sinuses,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0008450,Narrow vertebral interpedicular distance,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0008479,Hypoplastic vertebral bodies,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0008497,Congenital craniofacial dysostosis,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0009803,Short phalanx of finger,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0010579,Cone-shaped epiphysis,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0010743,Short metatarsal,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017300,Orphanet,280651,ORPHA:280651,46,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,"[PMID:21651393, PMID:2246252, PMID:22464250, PMID:23033274, PMID:24203977, PMID:3055990, PMID:5305130, PMID:5551869]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0000027,Azoospermia,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0000454,Flared nostrils,Occasional (29-5%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0000815,Hypergonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0001342,Cerebral hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0001644,Dilated cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0001677,Coronary artery atherosclerosis,Occasional (29-5%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0002140,Ischemic stroke,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0002216,Premature graying of hair,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0007970,Congenital ptosis,Frequent (79-30%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017301,Orphanet,280679,ORPHA:280679,27,HP:0011834,Moyamoya phenomenon,Very frequent (99-80%),TAS,,,,"[PMID:20644152, PMID:21596366, PMID:25733922]",y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0001339,Lissencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0002357,Dysphasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0002488,Acute leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0002577,Abnormal stomach morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0004298,Abnormality of the abdominal wall,Occasional (29-5%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0010866,Abdominal wall defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0017302,Orphanet,281090,ORPHA:281090,21,HP:0100617,Testicular seminoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0017303,Orphanet,281122,ORPHA:281122,2,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017303,Orphanet,281122,ORPHA:281122,2,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017306,Orphanet,281201,ORPHA:281201,2,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017306,Orphanet,281201,ORPHA:281201,2,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0000605,Supranuclear gaze palsy,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0000746,Delusions,Occasional (29-5%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0000751,Personality changes,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0001350,Slurred speech,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0002283,Global brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0002401,Stroke-like episode,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0002446,Astrocytosis,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0002529,Neuronal loss in central nervous system,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0002922,Increased CSF protein,Occasional (29-5%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0005327,Loss of facial expression,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0006943,Diffuse spongiform leukoencephalopathy,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0007009,Central nervous system degeneration,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0007017,Progressive forgetfulness,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0007158,Progressive extrapyramidal muscular rigidity,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0007183,Focal T2 hyperintense basal ganglia lesion,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0007686,Abnormal pupillary function,Occasional (29-5%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0010542,Vestibular nystagmus,Occasional (29-5%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0010846,EEG with persistent abnormal rhythmic activity,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0011099,Spastic hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0012672,Akinetic mutism,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0025152,Poor visual behavior for age,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0100256,Senile plaques,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0100292,Amyloidosis of peripheral nerves,Occasional (29-5%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0100661,Trigeminal neuralgia,Occasional (29-5%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0100785,Insomnia,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017307,Orphanet,282166,ORPHA:282166,50,HP:0100786,Hypersomnia,Frequent (79-30%),TAS,,,,"[PMID:10360778, PMID:12197632, PMID:14088252, PMID:14522862, PMID:1469441, PMID:15314808, PMID:16301504, PMID:16434680, PMID:16682677, PMID:1675319, PMID:1677164, PMID:3094007, PMID:9279329]",y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000647,Sclerocornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0002263,Exaggerated cupid's bow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0004408,Abnormality of the sense of smell,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0005916,Abnormal metacarpal morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0007730,Iris hypopigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0010489,Absent palmar crease,Frequent (79-30%),TAS,,,,,y,y +GARD:0017310,Orphanet,284160,ORPHA:284160,39,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000483,Astigmatism,Frequent (79-30%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0001627,Abnormal heart morphology,Very frequent (99-80%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0001714,Ventricular hypertrophy,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0002608,Celiac disease,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0010800,Absent cupid's bow,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0012443,Abnormality of brain morphology,Very frequent (99-80%),TAS,,,,[PMID:21522184],y,y +GARD:0017311,Orphanet,284169,ORPHA:284169,46,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,[PMID:21522184],y,y +GARD:0017312,Orphanet,284271,ORPHA:284271,13,HP:0000617,Abnormality of ocular smooth pursuit,Very frequent (99-80%),TAS,,,,[PMID:21835308],y,y +GARD:0017312,Orphanet,284271,ORPHA:284271,13,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:21835308],y,y +GARD:0017312,Orphanet,284271,ORPHA:284271,13,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:21835308],y,y +GARD:0017312,Orphanet,284271,ORPHA:284271,13,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMID:21835308],y,y +GARD:0017312,Orphanet,284271,ORPHA:284271,13,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:21835308],y,y +GARD:0017312,Orphanet,284271,ORPHA:284271,13,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:21835308],y,y +GARD:0017312,Orphanet,284271,ORPHA:284271,13,HP:0001272,Cerebellar atrophy,Very frequent (99-80%),TAS,,,,[PMID:21835308],y,y +GARD:0017312,Orphanet,284271,ORPHA:284271,13,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,[PMID:21835308],y,y +GARD:0017312,Orphanet,284271,ORPHA:284271,13,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,[PMID:21835308],y,y +GARD:0017312,Orphanet,284271,ORPHA:284271,13,HP:0002070,Limb ataxia,Very frequent (99-80%),TAS,,,,[PMID:21835308],y,y +GARD:0017312,Orphanet,284271,ORPHA:284271,13,HP:0002078,Truncal ataxia,Very frequent (99-80%),TAS,,,,[PMID:21835308],y,y +GARD:0017312,Orphanet,284271,ORPHA:284271,13,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,[PMID:21835308],y,y +GARD:0017312,Orphanet,284271,ORPHA:284271,13,HP:0007979,Gaze-evoked horizontal nystagmus,Frequent (79-30%),TAS,,,,[PMID:21835308],y,y +GARD:0017313,Orphanet,284282,ORPHA:284282,8,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,[PMID:17470496],y,y +GARD:0017313,Orphanet,284282,ORPHA:284282,8,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:17470496],y,y +GARD:0017313,Orphanet,284282,ORPHA:284282,8,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:17470496],y,y +GARD:0017313,Orphanet,284282,ORPHA:284282,8,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,[PMID:17470496],y,y +GARD:0017313,Orphanet,284282,ORPHA:284282,8,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,[PMID:17470496],y,y +GARD:0017313,Orphanet,284282,ORPHA:284282,8,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,[PMID:17470496],y,y +GARD:0017313,Orphanet,284282,ORPHA:284282,8,HP:0002070,Limb ataxia,Very frequent (99-80%),TAS,,,,[PMID:17470496],y,y +GARD:0017313,Orphanet,284282,ORPHA:284282,8,HP:0002839,Urinary bladder sphincter dysfunction,Occasional (29-5%),TAS,,,,[PMID:17470496],y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0000503,Tortuosity of conjunctival vessels,Occasional (29-5%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0000608,Macular degeneration,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0000641,Dysmetric saccades,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0001152,Saccadic smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0001350,Slurred speech,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0008969,Leg muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0010545,Downbeat nystagmus,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0011448,Ankle clonus,Frequent (79-30%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017314,Orphanet,284289,ORPHA:284289,28,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:21092923, PMID:25182700]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000133,Gonadal dysgenesis,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000151,Aplasia of the uterus,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000215,Thick upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0002060,Abnormal cerebral morphology,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0002365,Hypoplasia of the brainstem,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0006955,Olivopontocerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0008665,Clitoral hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0012856,Abnormal scrotal rugation,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0030197,Fatigable weakness of skeletal muscles,Frequent (79-30%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0030260,Microphallus,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017315,Orphanet,284339,ORPHA:284339,37,HP:0030261,Absent penis,Occasional (29-5%),TAS,,,,"[PMID:11068172, PMID:21594990, PMID:23686794, PMID:28092684]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0000867,Secondary hyperparathyroidism,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0000886,Deformed rib cage,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0000897,Rachitic rosary,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0000920,Enlargement of the costochondral junction,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0001281,Tetany,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0001538,Protuberant abdomen,Occasional (29-5%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002148,Hypophosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002199,Hypocalcemic seizures,Occasional (29-5%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002659,Increased susceptibility to fractures,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002663,Delayed epiphyseal ossification,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002748,Rickets,Obligate (100%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002749,Osteomalacia,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002752,Sparse bone trabeculae,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002753,Thin bony cortex,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002901,Hypocalcemia,Obligate (100%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002909,Generalized aminoaciduria,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002970,Genu varum,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002980,Femoral bowing,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0002982,Tibial bowing,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0003020,Enlargement of the wrists,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0003029,Enlargement of the ankles,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0003106,Subperiosteal bone resorption,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0003165,Elevated circulating parathyroid hormone level,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0005042,"Irregular, rachitic-like metaphyses",Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0005469,Flat occiput,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0006297,Enamel hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0010537,Wide cranial sutures,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0010639,Elevated alkaline phosphatase of bone origin,Very frequent (99-80%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017319,Orphanet,289157,ORPHA:289157,40,HP:0012052,Low serum calcitriol,Obligate (100%),TAS,,,,"[PMID:15128933, PMID:4309963, PMID:4357855, PMID:8201479, PMID:9295274, PMID:9837822]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0000117,Renal phosphate wasting,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0001250,Seizure,Excluded (0%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0001324,Muscle weakness,Excluded (0%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0002749,Osteomalacia,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0002812,Coxa vara,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0002814,Abnormality of the lower limb,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0002970,Genu varum,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0002982,Tibial bowing,Frequent (79-30%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0003020,Enlargement of the wrists,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0003109,Hyperphosphaturia,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0003416,Spinal canal stenosis,Frequent (79-30%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0003472,Hypocalcemic tetany,Excluded (0%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0004576,Sclerotic vertebral endplates,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0004912,Hypophosphatemic rickets,Obligate (100%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0005096,Distal femoral bowing,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0005764,Polyarticular arthritis,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0006463,Rickets of the lower limbs,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0008732,Renal hypophosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0010639,Elevated alkaline phosphatase of bone origin,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0011036,Abnormality of renal excretion,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0012052,Low serum calcitriol,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0030757,Tooth abscess,Frequent (79-30%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0100036,Pseudo-fractures,Frequent (79-30%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0100511,Abnormality of vitamin D metabolism,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0100559,Lower limb asymmetry,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0100671,Abnormal trabecular bone morphology,Very frequent (99-80%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0100686,Enthesitis,Frequent (79-30%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017320,Orphanet,289176,ORPHA:289176,37,HP:0100781,Abnormal sacroiliac joint morphology,Frequent (79-30%),TAS,,,,"[PMID:17033621, PMID:17033625, PMID:180907, PMID:308618, PMID:894124]",y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0000522,Alacrima,Very frequent (99-80%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0000805,Enuresis,Occasional (29-5%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0000834,Abnormality of the adrenal glands,Excluded (0%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0002002,Deep philtrum,Occasional (29-5%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0002571,Achalasia,Frequent (79-30%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0009916,Anisocoria,Frequent (79-30%),TAS,,,,[PMID:21744492],y,y +GARD:0017326,Orphanet,289483,ORPHA:289483,16,HP:0012434,Delayed social development,Very frequent (99-80%),TAS,,,,[PMID:21744492],y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0000124,Renal tubular dysfunction,Occasional (29-5%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0001259,Coma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0001987,Hyperammonemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017335,Orphanet,289916,ORPHA:289916,22,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017338,Orphanet,293381,ORPHA:293381,11,HP:0000495,Recurrent corneal erosions,Very frequent (99-80%),TAS,,,,"[PMID:26786512, PMID:29708937, PMID:30760455, PMID:31301286, PMID:32491788]",y,y +GARD:0017338,Orphanet,293381,ORPHA:293381,11,HP:0000529,Progressive visual loss,Very frequent (99-80%),TAS,,,,"[PMID:26786512, PMID:29708937, PMID:30760455, PMID:31301286, PMID:32491788]",y,y +GARD:0017338,Orphanet,293381,ORPHA:293381,11,HP:0000559,Corneal scarring,Frequent (79-30%),TAS,,,,"[PMID:26786512, PMID:29708937, PMID:30760455, PMID:31301286, PMID:32491788]",y,y +GARD:0017338,Orphanet,293381,ORPHA:293381,11,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:26786512, PMID:29708937, PMID:30760455, PMID:31301286, PMID:32491788]",y,y +GARD:0017338,Orphanet,293381,ORPHA:293381,11,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,"[PMID:26786512, PMID:29708937, PMID:30760455, PMID:31301286, PMID:32491788]",y,y +GARD:0017338,Orphanet,293381,ORPHA:293381,11,HP:0001097,Keratoconjunctivitis sicca,Occasional (29-5%),TAS,,,,"[PMID:26786512, PMID:29708937, PMID:30760455, PMID:31301286, PMID:32491788]",y,y +GARD:0017338,Orphanet,293381,ORPHA:293381,11,HP:0001131,Corneal dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:26786512, PMID:29708937, PMID:30760455, PMID:31301286, PMID:32491788]",y,y +GARD:0017338,Orphanet,293381,ORPHA:293381,11,HP:0008039,Subepithelial corneal opacities,Very frequent (99-80%),TAS,,,,"[PMID:26786512, PMID:29708937, PMID:30760455, PMID:31301286, PMID:32491788]",y,y +GARD:0017338,Orphanet,293381,ORPHA:293381,11,HP:0009926,Epiphora,Occasional (29-5%),TAS,,,,"[PMID:26786512, PMID:29708937, PMID:30760455, PMID:31301286, PMID:32491788]",y,y +GARD:0017338,Orphanet,293381,ORPHA:293381,11,HP:0031792,Irregular astigmatism,Frequent (79-30%),TAS,,,,"[PMID:26786512, PMID:29708937, PMID:30760455, PMID:31301286, PMID:32491788]",y,y +GARD:0017338,Orphanet,293381,ORPHA:293381,11,HP:0200026,Ocular pain,Very frequent (99-80%),TAS,,,,"[PMID:26786512, PMID:29708937, PMID:30760455, PMID:31301286, PMID:32491788]",y,y +GARD:0017339,Orphanet,293621,ORPHA:293621,7,HP:0000565,Esotropia,Very rare (<4-1%),TAS,,,,[PMID:16490493],y,y +GARD:0017339,Orphanet,293621,ORPHA:293621,7,HP:0000585,Band keratopathy,Very frequent (99-80%),TAS,,,,[PMID:16490493],y,y +GARD:0017339,Orphanet,293621,ORPHA:293621,7,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,[PMID:16490493],y,y +GARD:0017339,Orphanet,293621,ORPHA:293621,7,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,[PMID:16490493],y,y +GARD:0017339,Orphanet,293621,ORPHA:293621,7,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,[PMID:16490493],y,y +GARD:0017339,Orphanet,293621,ORPHA:293621,7,HP:0011488,Abnormal corneal endothelium morphology,Very frequent (99-80%),TAS,,,,[PMID:16490493],y,y +GARD:0017339,Orphanet,293621,ORPHA:293621,7,HP:0100018,Nuclear cataract,Very rare (<4-1%),TAS,,,,[PMID:16490493],y,y +GARD:0017341,Orphanet,293707,ORPHA:293707,8,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017341,Orphanet,293707,ORPHA:293707,8,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017341,Orphanet,293707,ORPHA:293707,8,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017341,Orphanet,293707,ORPHA:293707,8,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017341,Orphanet,293707,ORPHA:293707,8,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017341,Orphanet,293707,ORPHA:293707,8,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017341,Orphanet,293707,ORPHA:293707,8,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017341,Orphanet,293707,ORPHA:293707,8,HP:0009928,Thick nasal alae,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0000185,Cleft soft palate,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0000311,Round face,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0000391,Thickened helices,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0000395,Prominent antihelix,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0000437,Depressed nasal tip,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0000807,Glandular hypospadias,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0001181,Adducted thumb,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0002190,Choroid plexus cyst,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0002339,Abnormal caudate nucleus morphology,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0002521,Hypsarrhythmia,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0005274,Prominent nasal tip,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0006191,Deep palmar crease,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0006970,Periventricular leukomalacia,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0009928,Thick nasal alae,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0010761,Broad columella,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0011251,Underdeveloped antitragus,Occasional (29-5%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0011343,Moderate global developmental delay,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017342,Orphanet,293725,ORPHA:293725,32,HP:0100587,Abnormal preputium morphology,Frequent (79-30%),TAS,,,,[PMID:16700052],y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000194,Open mouth,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000200,Short lingual frenulum,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000421,Epistaxis,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000678,Dental crowding,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000716,Depression,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000718,Aggressive behavior,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000739,Anxiety,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000817,Poor eye contact,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0001643,Patent ductus arteriosus,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0001655,Patent foramen ovale,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0001840,Metatarsus adductus,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0002099,Asthma,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0002788,Recurrent upper respiratory tract infections,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0003265,Neonatal hyperbilirubinemia,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0003324,Generalized muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0003550,Predominantly lower limb lymphedema,Frequent (79-30%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0010862,Delayed fine motor development,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0011234,Absent antihelix,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0011730,Abnormal central sensory function,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0012169,Self-biting,Frequent (79-30%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0012172,Stereotypical body rocking,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0012724,Upper eyelid edema,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0030051,Tip-toe gait,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0100710,Impulsivity,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017350,Orphanet,293939,ORPHA:293939,43,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:18047645, PMID:20004760, PMID:21984752]",y,y +GARD:0017352,Orphanet,293964,ORPHA:293964,14,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,"[PMID:13952653, PMID:14764948, PMID:21979934]",y,y +GARD:0017352,Orphanet,293964,ORPHA:293964,14,HP:0001325,Hypoglycemic coma,Very frequent (99-80%),TAS,,,,"[PMID:13952653, PMID:14764948, PMID:21979934]",y,y +GARD:0017352,Orphanet,293964,ORPHA:293964,14,HP:0001520,Large for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:13952653, PMID:14764948, PMID:21979934]",y,y +GARD:0017352,Orphanet,293964,ORPHA:293964,14,HP:0001528,Hemihypertrophy,Obligate (100%),TAS,,,,"[PMID:13952653, PMID:14764948, PMID:21979934]",y,y +GARD:0017352,Orphanet,293964,ORPHA:293964,14,HP:0001956,Truncal obesity,Very frequent (99-80%),TAS,,,,"[PMID:13952653, PMID:14764948, PMID:21979934]",y,y +GARD:0017352,Orphanet,293964,ORPHA:293964,14,HP:0001958,Nonketotic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:13952653, PMID:14764948, PMID:21979934]",y,y +GARD:0017352,Orphanet,293964,ORPHA:293964,14,HP:0001985,Hypoketotic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:13952653, PMID:14764948, PMID:21979934]",y,y +GARD:0017352,Orphanet,293964,ORPHA:293964,14,HP:0001998,Neonatal hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:13952653, PMID:14764948, PMID:21979934]",y,y +GARD:0017352,Orphanet,293964,ORPHA:293964,14,HP:0002173,Hypoglycemic seizures,Very frequent (99-80%),TAS,,,,"[PMID:13952653, PMID:14764948, PMID:21979934]",y,y +GARD:0017352,Orphanet,293964,ORPHA:293964,14,HP:0002960,Autoimmunity,Excluded (0%),TAS,,,,"[PMID:13952653, PMID:14764948, PMID:21979934]",y,y +GARD:0017352,Orphanet,293964,ORPHA:293964,14,HP:0006568,Increased hepatic glycogen content,Very frequent (99-80%),TAS,,,,"[PMID:13952653, PMID:14764948, PMID:21979934]",y,y +GARD:0017352,Orphanet,293964,ORPHA:293964,14,HP:0030781,Increased circulating free fatty acid level,Excluded (0%),TAS,,,,"[PMID:13952653, PMID:14764948, PMID:21979934]",y,y +GARD:0017352,Orphanet,293964,ORPHA:293964,14,HP:0030812,Enlarged tonsils,Very frequent (99-80%),TAS,,,,"[PMID:13952653, PMID:14764948, PMID:21979934]",y,y +GARD:0017352,Orphanet,293964,ORPHA:293964,14,HP:0040215,Abnormal circulating insulin level,Very frequent (99-80%),TAS,,,,"[PMID:13952653, PMID:14764948, PMID:21979934]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0000403,Recurrent otitis media,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0001045,Vitiligo,Excluded (0%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0001325,Hypoglycemic coma,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0001973,Autoimmune thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0001988,Recurrent hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0002110,Bronchiectasis,Frequent (79-30%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0002153,Hyperkalemia,Excluded (0%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0002788,Recurrent upper respiratory tract infections,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0002837,Recurrent bronchitis,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0002902,Hyponatremia,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0002920,Decreased circulating ACTH level,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0003765,Psoriasiform dermatitis,Occasional (29-5%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0004332,Abnormal lymphocyte morphology,Frequent (79-30%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0004429,Recurrent viral infections,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0005365,Severe B lymphocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0006532,Recurrent pneumonia,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0007418,Alopecia totalis,Occasional (29-5%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0008163,Decreased circulating cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0011108,Recurrent sinusitis,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0011735,Adrenocorticotropin deficient adrenal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0012504,Abnormal size of pituitary gland,Frequent (79-30%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0030349,Decreased circulating androgen concentration,Occasional (29-5%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0030353,Decreased serum insulin-like growth factor 1,Occasional (29-5%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0100646,Thyroiditis,Excluded (0%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0100776,Recurrent pharyngitis,Very frequent (99-80%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0100803,Abnormality of the periungual region,Frequent (79-30%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017353,Orphanet,293978,ORPHA:293978,38,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:12269656, PMID:1645668, PMID:22013103, PMID:25524009]",y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0000498,Blepharitis,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0001805,Onychogryposis,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0003765,Psoriasiform dermatitis,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0005406,Recurrent bacterial skin infections,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0008396,Chronic monilial nail infection,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0011131,Perianal dermatitis,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0011228,Horizontal eyebrow,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0011354,Generalized abnormality of skin,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0012390,Anal fissure,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0025085,Bloody diarrhea,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0031123,Recurrent gastroenteritis,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0040181,Chapped lip,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0040189,Scaling skin,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0100038,Slow-growing scalp hair,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0200039,Pustule,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017355,Orphanet,294023,ORPHA:294023,18,HP:0410017,Otitis externa,Frequent (79-30%),TAS,,,,[PMID:22010916],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0000482,Microcornea,Very rare (<4-1%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0001075,Atrophic scars,Frequent (79-30%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0001519,Disproportionate tall stature,Very rare (<4-1%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0002421,Poor head control,Very frequent (99-80%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0006829,Severe muscular hypotonia,Very frequent (99-80%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0007502,Follicular hyperkeratosis,Very frequent (99-80%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0012372,Abnormal eye morphology,Occasional (29-5%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0025019,Arterial rupture,Occasional (29-5%),TAS,,,,[PMID:22265013],y,y +GARD:0017361,Orphanet,300179,ORPHA:300179,23,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,[PMID:22265013],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0000027,Azoospermia,Frequent (79-30%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0000846,Adrenal insufficiency,Occasional (29-5%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Frequent (79-30%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0001896,Reticulocytopenia,Very frequent (99-80%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0003281,Increased circulating ferritin concentration,Very frequent (99-80%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0003452,Increased serum iron,Frequent (79-30%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0004823,Anisopoikilocytosis,Frequent (79-30%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0012134,Dysplastic erythropoesis,Occasional (29-5%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0012464,Decreased transferrin saturation,Very frequent (99-80%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0012465,Elevated hepatic iron concentration,Frequent (79-30%),TAS,,,,[PMID:22031863],y,y +GARD:0017364,Orphanet,300298,ORPHA:300298,20,HP:0025066,Decreased mean corpuscular volume,Frequent (79-30%),TAS,,,,[PMID:22031863],y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0000699,Diastema,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0000845,Elevated circulating growth hormone concentration,Very frequent (99-80%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0000870,Increased circulating prolactin concentration,Very frequent (99-80%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0001833,Long foot,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0002893,Pituitary adenoma,Frequent (79-30%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0004924,Abnormal oral glucose tolerance,Frequent (79-30%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0008283,Fasting hyperinsulinemia,Frequent (79-30%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0010535,Sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0011748,Adrenocorticotropic hormone deficiency,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0012503,Abnormality of the pituitary gland,Very frequent (99-80%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0012505,Enlarged pituitary gland,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0025163,Abnormality of optic chiasm morphology,Frequent (79-30%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0025267,Snoring,Frequent (79-30%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0030269,Increased serum insulin-like growth factor 1,Very frequent (99-80%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0031098,Decreased thyroid-stimulating hormone level,Frequent (79-30%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0031418,Increased body mass index,Frequent (79-30%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017370,Orphanet,300373,ORPHA:300373,36,HP:0040075,Hypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:25712922, PMID:29389097]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0001274,Agenesis of corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0001339,Lissencephaly,Very rare (<4-1%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0002126,Polymicrogyria,Very frequent (99-80%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0002282,Gray matter heterotopia,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0002339,Abnormal caudate nucleus morphology,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0002363,Abnormal brainstem morphology,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0002389,Cavum septum pellucidum,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0002539,Cortical dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0007301,Oromotor apraxia,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0010636,Schizencephaly,Very rare (<4-1%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0012110,Hypoplasia of the pons,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0012377,Hemianopia,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0012650,Perisylvian polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0025102,Dysgenesis of the basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0025160,Abnormal temper tantrums,Occasional (29-5%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017375,Orphanet,300573,ORPHA:300573,30,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:10891642, PMID:16401865, PMID:19465910, PMID:22333901, PMID:26130693, PMID:27010057]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0002079,Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0002839,Urinary bladder sphincter dysfunction,Frequent (79-30%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0003319,Abnormality of the cervical spine,Frequent (79-30%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017378,Orphanet,306511,ORPHA:306511,19,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20613862, PMID:24833714, PMID:26085577]",y,y +GARD:0017383,Orphanet,306734,ORPHA:306734,9,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,"[PMID:21301909, PMID:3400518]",y,y +GARD:0017383,Orphanet,306734,ORPHA:306734,9,HP:0000643,Blepharospasm,Frequent (79-30%),TAS,,,,"[PMID:21301909, PMID:3400518]",y,y +GARD:0017383,Orphanet,306734,ORPHA:306734,9,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:21301909, PMID:3400518]",y,y +GARD:0017383,Orphanet,306734,ORPHA:306734,9,HP:0002268,Paroxysmal dystonia,Frequent (79-30%),TAS,,,,"[PMID:21301909, PMID:3400518]",y,y +GARD:0017383,Orphanet,306734,ORPHA:306734,9,HP:0002451,Limb dystonia,Occasional (29-5%),TAS,,,,"[PMID:21301909, PMID:3400518]",y,y +GARD:0017383,Orphanet,306734,ORPHA:306734,9,HP:0002530,Axial dystonia,Occasional (29-5%),TAS,,,,"[PMID:21301909, PMID:3400518]",y,y +GARD:0017383,Orphanet,306734,ORPHA:306734,9,HP:0004373,Focal dystonia,Frequent (79-30%),TAS,,,,"[PMID:21301909, PMID:3400518]",y,y +GARD:0017383,Orphanet,306734,ORPHA:306734,9,HP:0007325,Generalized dystonia,Frequent (79-30%),TAS,,,,"[PMID:21301909, PMID:3400518]",y,y +GARD:0017383,Orphanet,306734,ORPHA:306734,9,HP:0012049,Laryngeal dystonia,Occasional (29-5%),TAS,,,,"[PMID:21301909, PMID:3400518]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0000969,Edema,Very rare (<4-1%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0001097,Keratoconjunctivitis sicca,Occasional (29-5%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0001738,Exocrine pancreatic insufficiency,Frequent (79-30%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0001891,Iron deficiency anemia,Occasional (29-5%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0002570,Steatorrhea,Frequent (79-30%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0002583,Colitis,Very rare (<4-1%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0002748,Rickets,Occasional (29-5%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0002749,Osteomalacia,Occasional (29-5%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0004905,Low levels of vitamin A,Frequent (79-30%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0011892,Low levels of vitamin K,Frequent (79-30%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0012047,Hemeralopia,Occasional (29-5%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0100512,Low levels of vitamin D,Frequent (79-30%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017401,Orphanet,309031,ORPHA:309031,21,HP:0100513,Low levels of vitamin E,Frequent (79-30%),TAS,,,,"[PMID:24262094, PMID:28727474, PMID:31086851]",y,y +GARD:0017402,Orphanet,309108,ORPHA:309108,7,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,"[PMID:14169458, PMID:5144703, PMID:6153713, PMID:7068048]",y,y +GARD:0017402,Orphanet,309108,ORPHA:309108,7,HP:0001510,Growth delay,Excluded (0%),TAS,,,,"[PMID:14169458, PMID:5144703, PMID:6153713, PMID:7068048]",y,y +GARD:0017402,Orphanet,309108,ORPHA:309108,7,HP:0001738,Exocrine pancreatic insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:14169458, PMID:5144703, PMID:6153713, PMID:7068048]",y,y +GARD:0017402,Orphanet,309108,ORPHA:309108,7,HP:0001889,Megaloblastic anemia,Very frequent (99-80%),TAS,,,,"[PMID:14169458, PMID:5144703, PMID:6153713, PMID:7068048]",y,y +GARD:0017402,Orphanet,309108,ORPHA:309108,7,HP:0002028,Chronic diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:14169458, PMID:5144703, PMID:6153713, PMID:7068048]",y,y +GARD:0017402,Orphanet,309108,ORPHA:309108,7,HP:0002570,Steatorrhea,Very frequent (99-80%),TAS,,,,"[PMID:14169458, PMID:5144703, PMID:6153713, PMID:7068048]",y,y +GARD:0017402,Orphanet,309108,ORPHA:309108,7,HP:0002630,Fat malabsorption,Very frequent (99-80%),TAS,,,,"[PMID:14169458, PMID:5144703, PMID:6153713, PMID:7068048]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0000719,Inappropriate behavior,Frequent (79-30%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0002059,Cerebral atrophy,Very frequent (99-80%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0002180,Neurodegeneration,Very frequent (99-80%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0002200,Pseudobulbar signs,Occasional (29-5%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0002267,Exaggerated startle response,Very frequent (99-80%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0002371,Loss of speech,Frequent (79-30%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0002476,Primitive reflex,Frequent (79-30%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0002478,Progressive spastic quadriplegia,Very frequent (99-80%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0009062,Infantile axial hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0010729,Cherry red spot of the macula,Frequent (79-30%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0010780,Hyperacusis,Very frequent (99-80%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0012547,Abnormal involuntary eye movements,Frequent (79-30%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0030081,Punctate periventricular T2 hyperintense foci,Occasional (29-5%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0030904,Glabellar reflex,Frequent (79-30%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017406,Orphanet,309246,ORPHA:309246,25,HP:0100852,Abnormal fear/anxiety-related behavior,Very frequent (99-80%),TAS,,,,"[PMID:174379, PMID:26203402, PMID:6801612, PMID:9932959]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000010,Recurrent urinary tract infections,Very rare (<4-1%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000297,Facial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000388,Otitis media,Very frequent (99-80%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000410,Mixed hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000687,Widely spaced teeth,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000746,Delusions,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000900,Thickened ribs,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000943,Dysostosis multiplex,Very frequent (99-80%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0000977,Soft skin,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001258,Spastic paraplegia,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001334,Communicating hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001519,Disproportionate tall stature,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001659,Aortic regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001776,Bilateral talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0002329,Drowsiness,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0002371,Loss of speech,Very rare (<4-1%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0002679,Abnormal sella turcica morphology,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0002684,Thickened calvaria,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0004437,Cranial hyperostosis,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0004684,Talipes valgus,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0005791,Cortical thickening of long bone diaphyses,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0008821,Hypoplastic inferior ilia,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0009062,Infantile axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0010471,Oligosacchariduria,Very frequent (99-80%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0010665,Bilateral coxa valga,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0011334,Facial shape deformation,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0011842,Abnormal skeletal morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0012157,Subcortical cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0012368,Flat face,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0025406,Asthenia,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0031123,Recurrent gastroenteritis,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017407,Orphanet,309282,ORPHA:309282,88,HP:0430022,Abnormality of the sphenoid sinus,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:31241255]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0000410,Mixed hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0000543,Optic disc pallor,Very rare (<4-1%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0000746,Delusions,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0001659,Aortic regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0001876,Pancytopenia,Very rare (<4-1%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0002329,Drowsiness,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0007957,Corneal opacity,Very rare (<4-1%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0010471,Oligosacchariduria,Very frequent (99-80%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0012157,Subcortical cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0025406,Asthenia,Frequent (79-30%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017408,Orphanet,309288,ORPHA:309288,30,HP:0031123,Recurrent gastroenteritis,Occasional (29-5%),TAS,,,,"[PMID:20301570, PMID:27814608, PMID:30792122]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0002313,Spastic paraparesis,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0007108,Demyelinating peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017409,Orphanet,313772,ORPHA:313772,24,HP:0008316,Abnormal mitochondria in muscle tissue,Frequent (79-30%),TAS,,,,"[PMID:22022284, PMID:25401298]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0000078,Abnormality of the genital system,Occasional (29-5%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0000189,Narrow palate,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0000577,Exotropia,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0001249,Intellectual disability,Obligate (100%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0001270,Motor delay,Obligate (100%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0002711,Exaggerated median tongue furrow,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0002938,Lumbar hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0002948,Vertebral fusion,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0003316,Butterfly vertebrae,Occasional (29-5%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0004691,2-3 toe syndactyly,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0005659,Thoracic kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017415,Orphanet,313892,ORPHA:313892,31,HP:0430028,Hyperplasia of the maxilla,Very frequent (99-80%),TAS,,,,"[PMID:22290657, PMID:26111154]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000085,Horseshoe kidney,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000126,Hydronephrosis,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000262,Turricephaly,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000308,Microretrognathia,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000356,Abnormality of the outer ear,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000410,Mixed hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000676,Abnormality of the incisor,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0000766,Abnormal sternum morphology,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001519,Disproportionate tall stature,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001548,Overgrowth,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001623,Breech presentation,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0002667,Nephroblastoma,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0006143,Abnormal finger flexion creases,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0007642,Congenital stationary night blindness,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0008519,Abnormal coccyx morphology,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0008714,Ureterovesical stenosis,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0009471,Contracture of the proximal interphalangeal joint of the 3rd finger,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0009540,Contracture of the proximal interphalangeal joint of the 2nd finger,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0010653,Abnormality of the falx cerebri,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0012210,Abnormal renal morphology,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017423,Orphanet,314585,ORPHA:314585,65,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:22653535, PMID:22711292]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000034,Hydrocele testis,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000113,Polycystic kidney dysplasia,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000378,Cupped ear,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000766,Abnormal sternum morphology,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000811,Abnormal external genitalia,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0000929,Abnormal skull morphology,Frequent (79-30%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001131,Corneal dystrophy,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001507,Growth abnormality,Very frequent (99-80%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0002667,Nephroblastoma,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0003517,Birth length greater than 97th percentile,Frequent (79-30%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0010946,Dilatation of the renal pelvis,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0011039,Abnormal helix morphology,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0012304,Hypoplastic aortic arch,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017424,Orphanet,314588,ORPHA:314588,45,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,"[PMID:19133692, PMID:22653535]",y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0000012,Urinary urgency,Frequent (79-30%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0000666,Horizontal nystagmus,Frequent (79-30%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0002352,Leukoencephalopathy,Frequent (79-30%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0002497,Spastic ataxia,Very frequent (99-80%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:16672289],y,y +GARD:0017425,Orphanet,314603,ORPHA:314603,16,HP:0008619,Bilateral sensorineural hearing impairment,Occasional (29-5%),TAS,,,,[PMID:16672289],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0000716,Depression,Very rare (<4-1%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0002063,Rigidity,Very frequent (99-80%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0002174,Postural tremor,Very rare (<4-1%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0002339,Abnormal caudate nucleus morphology,Occasional (29-5%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0002506,Diffuse cerebral atrophy,Frequent (79-30%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0002548,Parkinsonism with favorable response to dopaminergic medication,Frequent (79-30%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0025331,Upgaze palsy,Frequent (79-30%),TAS,,,,[PMID:25197640],y,y +GARD:0017427,Orphanet,314632,ORPHA:314632,18,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,[PMID:25197640],y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000160,Narrow mouth,Very rare (<4-1%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000256,Macrocephaly,Very rare (<4-1%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000639,Nystagmus,Excluded (0%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0001348,Brisk reflexes,Very rare (<4-1%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0002003,Large forehead,Very rare (<4-1%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0002080,Intention tremor,Very rare (<4-1%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0002120,Cerebral cortical atrophy,Very rare (<4-1%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0002403,Positive Romberg sign,Excluded (0%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0002470,Nonprogressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0002536,Abnormal cortical gyration,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0007256,Abnormal pyramidal sign,Very rare (<4-1%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0011067,Mesiodens,Very rare (<4-1%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0011166,Focal myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0012433,Abnormal social behavior,Frequent (79-30%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0025517,Hypoplastic hippocampus,Very rare (<4-1%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0100540,Palpebral edema,Very rare (<4-1%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017429,Orphanet,314647,ORPHA:314647,39,HP:0400005,Short ear,Very rare (<4-1%),TAS,,,,"[PMID:17470457, PMID:22693284, PMID:24145135, PMID:24738973]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0002967,Cubitus valgus,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0002982,Tibial bowing,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0003067,Madelung deformity,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0003712,Skeletal muscle hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0005856,Ulnar radial head dislocation,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0005974,Episodic ketoacidosis,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0009816,Lower limb undergrowth,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017434,Orphanet,314795,ORPHA:314795,16,HP:0009821,Forearm undergrowth,Very frequent (99-80%),TAS,,,,"[PMID:14557470, PMID:1640423, PMID:17182655, PMID:20301394, PMID:22791839, PMID:2602357, PMID:8558868, PMID:9140395]",y,y +GARD:0017435,Orphanet,314802,ORPHA:314802,7,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:21525302, PMID:7568946, PMID:9140387, PMID:9814495]",y,y +GARD:0017435,Orphanet,314802,ORPHA:314802,7,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:21525302, PMID:7568946, PMID:9140387, PMID:9814495]",y,y +GARD:0017435,Orphanet,314802,ORPHA:314802,7,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:21525302, PMID:7568946, PMID:9140387, PMID:9814495]",y,y +GARD:0017435,Orphanet,314802,ORPHA:314802,7,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:21525302, PMID:7568946, PMID:9140387, PMID:9814495]",y,y +GARD:0017435,Orphanet,314802,ORPHA:314802,7,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:21525302, PMID:7568946, PMID:9140387, PMID:9814495]",y,y +GARD:0017435,Orphanet,314802,ORPHA:314802,7,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:21525302, PMID:7568946, PMID:9140387, PMID:9814495]",y,y +GARD:0017435,Orphanet,314802,ORPHA:314802,7,HP:0030353,Decreased serum insulin-like growth factor 1,Very frequent (99-80%),TAS,,,,"[PMID:21525302, PMID:7568946, PMID:9140387, PMID:9814495]",y,y +GARD:0017436,Orphanet,314811,ORPHA:314811,11,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:165111605, PMID:16511600, PMID:19789204]",y,y +GARD:0017436,Orphanet,314811,ORPHA:314811,11,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:165111605, PMID:16511600, PMID:19789204]",y,y +GARD:0017436,Orphanet,314811,ORPHA:314811,11,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:165111605, PMID:16511600, PMID:19789204]",y,y +GARD:0017436,Orphanet,314811,ORPHA:314811,11,HP:0001946,Ketosis,Very frequent (99-80%),TAS,,,,"[PMID:165111605, PMID:16511600, PMID:19789204]",y,y +GARD:0017436,Orphanet,314811,ORPHA:314811,11,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,"[PMID:165111605, PMID:16511600, PMID:19789204]",y,y +GARD:0017436,Orphanet,314811,ORPHA:314811,11,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:165111605, PMID:16511600, PMID:19789204]",y,y +GARD:0017436,Orphanet,314811,ORPHA:314811,11,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:165111605, PMID:16511600, PMID:19789204]",y,y +GARD:0017436,Orphanet,314811,ORPHA:314811,11,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:165111605, PMID:16511600, PMID:19789204]",y,y +GARD:0017436,Orphanet,314811,ORPHA:314811,11,HP:0004323,Abnormality of body weight,Frequent (79-30%),TAS,,,,"[PMID:165111605, PMID:16511600, PMID:19789204]",y,y +GARD:0017436,Orphanet,314811,ORPHA:314811,11,HP:0004325,Decreased body weight,Very frequent (99-80%),TAS,,,,"[PMID:165111605, PMID:16511600, PMID:19789204]",y,y +GARD:0017436,Orphanet,314811,ORPHA:314811,11,HP:0030353,Decreased serum insulin-like growth factor 1,Very frequent (99-80%),TAS,,,,"[PMID:165111605, PMID:16511600, PMID:19789204]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0001355,Megalencephaly,Occasional (29-5%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0001612,Weak cry,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0002200,Pseudobulbar signs,Very rare (<4-1%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0002421,Poor head control,Very frequent (99-80%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0002540,Inability to walk,Very frequent (99-80%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0004302,Functional motor deficit,Very frequent (99-80%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0011471,Gastrostomy tube feeding in infancy,Very rare (<4-1%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0012762,Cerebral white matter atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0025013,Decerebrate rigidity,Very rare (<4-1%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0025053,Elevated brain N-acetyl aspartate level by MRS,Very frequent (99-80%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0025405,Visual fixation instability,Very frequent (99-80%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017437,Orphanet,314911,ORPHA:314911,33,HP:0200136,Oral-pharyngeal dysphagia,Frequent (79-30%),TAS,,,,"[PMID:20301412, PMID:28101991, PMID:28613566]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0002493,Upper motor neuron dysfunction,Occasional (29-5%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0011342,Mild global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0012379,Abnormal enzyme/coenzyme activity,Frequent (79-30%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0012751,Abnormal basal ganglia MRI signal intensity,Occasional (29-5%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017438,Orphanet,314918,ORPHA:314918,16,HP:0040196,Mild microcephaly,Occasional (29-5%),TAS,,,,"[PMID:16437572, PMID:20301412, PMID:28101991]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0001152,Saccadic smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0002345,Action tremor,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0002470,Nonprogressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0003487,Babinski sign,Excluded (0%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017439,Orphanet,314978,ORPHA:314978,16,HP:0008935,Generalized neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:22912398]",y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0000372,Abnormality of the auditory canal,Very rare (<4-1%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0001508,Failure to thrive,Very rare (<4-1%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0002119,Ventriculomegaly,Very rare (<4-1%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0002169,Clonus,Very frequent (99-80%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0002451,Limb dystonia,Occasional (29-5%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0002495,Impaired vibratory sensation,Occasional (29-5%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0002539,Cortical dysplasia,Very rare (<4-1%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0007350,Hyperreflexia in upper limbs,Very frequent (99-80%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0010831,Impaired proprioception,Very rare (<4-1%),TAS,,,,[PMID:22717650],y,y +GARD:0017445,Orphanet,319199,ORPHA:319199,16,HP:0200049,Upper limb hypertonia,Frequent (79-30%),TAS,,,,[PMID:22717650],y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0000762,Decreased nerve conduction velocity,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0002134,Abnormality of the basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0002151,Increased serum lactate,Very frequent (99-80%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0002310,Orofacial dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0002490,Increased CSF lactate,Frequent (79-30%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0003273,Hip contracture,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0003548,Subsarcolemmal accumulations of abnormally shaped mitochondria,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0003554,Type 2 muscle fiber atrophy,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0003803,Type 1 muscle fiber predominance,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0006466,Ankle flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0006895,Lower limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0007069,Profound static encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0010994,Abnormal corpus striatum morphology,Frequent (79-30%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0040204,Elevated CSF neopterin level,Occasional (29-5%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017454,Orphanet,319514,ORPHA:319514,33,HP:0200125,Mitochondrial respiratory chain defects,Very frequent (99-80%),TAS,,,,"[PMID:23084291, PMID:30046113]",y,y +GARD:0017463,Orphanet,319600,ORPHA:319600,3,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017463,Orphanet,319600,ORPHA:319600,3,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017463,Orphanet,319600,ORPHA:319600,3,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0000315,Abnormality of the orbital region,Occasional (29-5%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0000687,Widely spaced teeth,Very frequent (99-80%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0000742,Self-mutilation,Occasional (29-5%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0000965,Cutis marmorata,Frequent (79-30%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0003100,Slender long bone,Occasional (29-5%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0012171,Stereotypical hand wringing,Occasional (29-5%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0040196,Mild microcephaly,Frequent (79-30%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0045025,Narrow palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017468,Orphanet,319671,ORPHA:319671,31,HP:0100738,Abnormal eating behavior,Frequent (79-30%),TAS,,,,"[PMID:22865833, PMID:26374271, PMID:30006060]",y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0001191,Abnormal carpal morphology,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0001607,Subglottic stenosis,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0003067,Madelung deformity,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0004220,Short middle phalanx of the 5th finger,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0004626,Lumbar scoliosis,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0008846,Severe intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0008850,Severe postnatal growth retardation,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0009826,Limb undergrowth,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017469,Orphanet,319675,ORPHA:319675,22,HP:0012814,Bilateral breast hypoplasia,Frequent (79-30%),TAS,,,,[PMID:22933543],y,y +GARD:0017471,Orphanet,320355,ORPHA:320355,14,HP:0000012,Urinary urgency,Frequent (79-30%),TAS,,,,[PMID:18364116],y,y +GARD:0017471,Orphanet,320355,ORPHA:320355,14,HP:0001250,Seizure,Excluded (0%),TAS,,,,[PMID:18364116],y,y +GARD:0017471,Orphanet,320355,ORPHA:320355,14,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:18364116],y,y +GARD:0017471,Orphanet,320355,ORPHA:320355,14,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,[PMID:18364116],y,y +GARD:0017471,Orphanet,320355,ORPHA:320355,14,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,[PMID:18364116],y,y +GARD:0017471,Orphanet,320355,ORPHA:320355,14,HP:0002314,Degeneration of the lateral corticospinal tracts,Very frequent (99-80%),TAS,,,,[PMID:18364116],y,y +GARD:0017471,Orphanet,320355,ORPHA:320355,14,HP:0002921,Abnormality of the cerebrospinal fluid,Excluded (0%),TAS,,,,[PMID:18364116],y,y +GARD:0017471,Orphanet,320355,ORPHA:320355,14,HP:0003457,EMG abnormality,Excluded (0%),TAS,,,,[PMID:18364116],y,y +GARD:0017471,Orphanet,320355,ORPHA:320355,14,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,[PMID:18364116],y,y +GARD:0017471,Orphanet,320355,ORPHA:320355,14,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,[PMID:18364116],y,y +GARD:0017471,Orphanet,320355,ORPHA:320355,14,HP:0007210,Lower limb amyotrophy,Frequent (79-30%),TAS,,,,[PMID:18364116],y,y +GARD:0017471,Orphanet,320355,ORPHA:320355,14,HP:0012898,Abnormal lower-limb motor evoked potentials,Excluded (0%),TAS,,,,[PMID:18364116],y,y +GARD:0017471,Orphanet,320355,ORPHA:320355,14,HP:0030237,Hand muscle weakness,Frequent (79-30%),TAS,,,,[PMID:18364116],y,y +GARD:0017471,Orphanet,320355,ORPHA:320355,14,HP:0100561,Spinal cord lesion,Frequent (79-30%),TAS,,,,[PMID:18364116],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0000012,Urinary urgency,Frequent (79-30%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0000726,Dementia,Excluded (0%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0006858,Impaired distal proprioception,Frequent (79-30%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0006886,Impaired distal vibration sensation,Frequent (79-30%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0006937,Impaired distal tactile sensation,Frequent (79-30%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0007220,Demyelinating motor neuropathy,Frequent (79-30%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0010829,Impaired temperature sensation,Frequent (79-30%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0011402,Demyelinating sensory neuropathy,Frequent (79-30%),TAS,,,,[PMID:19357379],y,y +GARD:0017472,Orphanet,320365,ORPHA:320365,20,HP:0012747,Abnormal brainstem MRI signal intensity,Excluded (0%),TAS,,,,[PMID:19357379],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0002313,Spastic paraparesis,Very frequent (99-80%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0002460,Distal muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0002495,Impaired vibratory sensation,Frequent (79-30%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0003438,Absent Achilles reflex,Frequent (79-30%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0003693,Distal amyotrophy,Very frequent (99-80%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0006380,Knee flexion contracture,Frequent (79-30%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0006466,Ankle flexion contracture,Frequent (79-30%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0007010,Poor fine motor coordination,Very frequent (99-80%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0007083,Hyperactive patellar reflex,Frequent (79-30%),TAS,,,,[PMID:20039086],y,y +GARD:0017473,Orphanet,320370,ORPHA:320370,17,HP:0012785,Flexion contracture of finger,Frequent (79-30%),TAS,,,,[PMID:20039086],y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0001138,Optic neuropathy,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0002313,Spastic paraparesis,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0003383,Onion bulb formation,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0003448,Decreased sensory nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0003484,Upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0007042,Focal white matter lesions,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0008963,Tibialis muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017474,Orphanet,320375,ORPHA:320375,27,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:23188110, PMID:24080142, PMID:24424123]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0006970,Periventricular leukomalacia,Occasional (29-5%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0007766,Optic disc hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0008366,Contractures involving the joints of the feet,Frequent (79-30%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017475,Orphanet,320380,ORPHA:320380,16,HP:0030891,Periventricular white matter hyperintensities,Frequent (79-30%),TAS,,,,"[PMID:23486545, PMID:24424123, PMID:24482476]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0000789,Infertility,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0002078,Truncal ataxia,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0002346,Head tremor,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0002464,Spastic dysarthria,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0006938,Impaired vibration sensation at ankles,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0006986,Upper limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0007371,Corpus callosum atrophy,Frequent (79-30%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0008003,Jerky ocular pursuit movements,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0012207,Reduced sperm motility,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0012864,Abnormal sperm morphology,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0012865,Abnormal sperm head morphology,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0100261,Abnormal tendon morphology,Occasional (29-5%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017476,Orphanet,320391,ORPHA:320391,33,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:23332916, PMID:23332917, PMID:24252062]",y,y +GARD:0017477,Orphanet,320396,ORPHA:320396,14,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:19415352],y,y +GARD:0017477,Orphanet,320396,ORPHA:320396,14,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,[PMID:19415352],y,y +GARD:0017477,Orphanet,320396,ORPHA:320396,14,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:19415352],y,y +GARD:0017477,Orphanet,320396,ORPHA:320396,14,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,[PMID:19415352],y,y +GARD:0017477,Orphanet,320396,ORPHA:320396,14,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:19415352],y,y +GARD:0017477,Orphanet,320396,ORPHA:320396,14,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:19415352],y,y +GARD:0017477,Orphanet,320396,ORPHA:320396,14,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:19415352],y,y +GARD:0017477,Orphanet,320396,ORPHA:320396,14,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,[PMID:19415352],y,y +GARD:0017477,Orphanet,320396,ORPHA:320396,14,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,[PMID:19415352],y,y +GARD:0017477,Orphanet,320396,ORPHA:320396,14,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:19415352],y,y +GARD:0017477,Orphanet,320396,ORPHA:320396,14,HP:0005830,Flexion contracture of toe,Very frequent (99-80%),TAS,,,,[PMID:19415352],y,y +GARD:0017477,Orphanet,320396,ORPHA:320396,14,HP:0006380,Knee flexion contracture,Very frequent (99-80%),TAS,,,,[PMID:19415352],y,y +GARD:0017477,Orphanet,320396,ORPHA:320396,14,HP:0006466,Ankle flexion contracture,Very frequent (99-80%),TAS,,,,[PMID:19415352],y,y +GARD:0017477,Orphanet,320396,ORPHA:320396,14,HP:0012043,Pendular nystagmus,Frequent (79-30%),TAS,,,,[PMID:19415352],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0000649,Abnormality of visual evoked potentials,Very frequent (99-80%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0001761,Pes cavus,Very frequent (99-80%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0002839,Urinary bladder sphincter dysfunction,Frequent (79-30%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0003429,CNS hypomyelination,Very frequent (99-80%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0006958,Abnormal auditory evoked potentials,Very frequent (99-80%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0007377,Abnormality of somatosensory evoked potentials,Very frequent (99-80%),TAS,,,,[PMID:19056803],y,y +GARD:0017478,Orphanet,320401,ORPHA:320401,16,HP:0012896,Abnormal motor evoked potentials,Very frequent (99-80%),TAS,,,,[PMID:19056803],y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0000543,Optic disc pallor,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0002267,Exaggerated startle response,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0002600,Hyporeflexia of lower limbs,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0002828,Multiple joint contractures,Very frequent (99-80%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0003380,Decreased number of peripheral myelinated nerve fibers,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0003693,Distal amyotrophy,Very frequent (99-80%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0007054,Proximal hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017479,Orphanet,320406,ORPHA:320406,20,HP:0008944,Distal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:15852396, PMID:19344448]",y,y +GARD:0017480,Orphanet,320411,ORPHA:320411,14,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:23176821],y,y +GARD:0017480,Orphanet,320411,ORPHA:320411,14,HP:0001258,Spastic paraplegia,Occasional (29-5%),TAS,,,,[PMID:23176821],y,y +GARD:0017480,Orphanet,320411,ORPHA:320411,14,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:23176821],y,y +GARD:0017480,Orphanet,320411,ORPHA:320411,14,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,[PMID:23176821],y,y +GARD:0017480,Orphanet,320411,ORPHA:320411,14,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,[PMID:23176821],y,y +GARD:0017480,Orphanet,320411,ORPHA:320411,14,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:23176821],y,y +GARD:0017480,Orphanet,320411,ORPHA:320411,14,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,[PMID:23176821],y,y +GARD:0017480,Orphanet,320411,ORPHA:320411,14,HP:0002395,Lower limb hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:23176821],y,y +GARD:0017480,Orphanet,320411,ORPHA:320411,14,HP:0002453,Abnormal globus pallidus morphology,Occasional (29-5%),TAS,,,,[PMID:23176821],y,y +GARD:0017480,Orphanet,320411,ORPHA:320411,14,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,[PMID:23176821],y,y +GARD:0017480,Orphanet,320411,ORPHA:320411,14,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,[PMID:23176821],y,y +GARD:0017480,Orphanet,320411,ORPHA:320411,14,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:23176821],y,y +GARD:0017480,Orphanet,320411,ORPHA:320411,14,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,[PMID:23176821],y,y +GARD:0017480,Orphanet,320411,ORPHA:320411,14,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,[PMID:23176821],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0000571,Hypometric saccades,Frequent (79-30%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0001271,Polyneuropathy,Occasional (29-5%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0002406,Limb dysmetria,Frequent (79-30%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0003698,Difficulty standing,Very frequent (99-80%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0007979,Gaze-evoked horizontal nystagmus,Occasional (29-5%),TAS,,,,[PMID:22901947],y,y +GARD:0017481,Orphanet,324262,ORPHA:324262,17,HP:0011347,Abnormality of ocular abduction,Frequent (79-30%),TAS,,,,[PMID:22901947],y,y +GARD:0017482,Orphanet,324290,ORPHA:324290,12,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:22961547],y,y +GARD:0017482,Orphanet,324290,ORPHA:324290,12,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:22961547],y,y +GARD:0017482,Orphanet,324290,ORPHA:324290,12,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:22961547],y,y +GARD:0017482,Orphanet,324290,ORPHA:324290,12,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:22961547],y,y +GARD:0017482,Orphanet,324290,ORPHA:324290,12,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,[PMID:22961547],y,y +GARD:0017482,Orphanet,324290,ORPHA:324290,12,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,[PMID:22961547],y,y +GARD:0017482,Orphanet,324290,ORPHA:324290,12,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,[PMID:22961547],y,y +GARD:0017482,Orphanet,324290,ORPHA:324290,12,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,[PMID:22961547],y,y +GARD:0017482,Orphanet,324290,ORPHA:324290,12,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:22961547],y,y +GARD:0017482,Orphanet,324290,ORPHA:324290,12,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,[PMID:22961547],y,y +GARD:0017482,Orphanet,324290,ORPHA:324290,12,HP:0011999,Paranoia,Very rare (<4-1%),TAS,,,,[PMID:22961547],y,y +GARD:0017482,Orphanet,324290,ORPHA:324290,12,HP:0100318,Lafora bodies,Very frequent (99-80%),TAS,,,,[PMID:22961547],y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0000053,Macroorchidism,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0001172,Abnormal thumb morphology,Frequent (79-30%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0002510,Spastic tetraplegia,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0003376,Steppage gait,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0004749,Atrial flutter,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0005781,Contractures of the large joints,Frequent (79-30%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0006705,Abnormal atrioventricular valve morphology,Frequent (79-30%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017485,Orphanet,324410,ORPHA:324410,30,HP:0010808,Protruding tongue,Occasional (29-5%),TAS,,,,"[PMID:21630357, PMID:22814392]",y,y +GARD:0017489,Orphanet,324703,ORPHA:324703,11,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0017489,Orphanet,324703,ORPHA:324703,11,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017489,Orphanet,324703,ORPHA:324703,11,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017489,Orphanet,324703,ORPHA:324703,11,HP:0001259,Coma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017489,Orphanet,324703,ORPHA:324703,11,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017489,Orphanet,324703,ORPHA:324703,11,HP:0001297,Stroke,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017489,Orphanet,324703,ORPHA:324703,11,HP:0001342,Cerebral hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017489,Orphanet,324703,ORPHA:324703,11,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,,y,y +GARD:0017489,Orphanet,324703,ORPHA:324703,11,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017489,Orphanet,324703,ORPHA:324703,11,HP:0003474,Somatic sensory dysfunction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017489,Orphanet,324703,ORPHA:324703,11,HP:0100659,Abnormal cerebral vascular morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0017490,Orphanet,324708,ORPHA:324708,9,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017490,Orphanet,324708,ORPHA:324708,9,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017490,Orphanet,324708,ORPHA:324708,9,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017490,Orphanet,324708,ORPHA:324708,9,HP:0001297,Stroke,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017490,Orphanet,324708,ORPHA:324708,9,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017490,Orphanet,324708,ORPHA:324708,9,HP:0001342,Cerebral hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017490,Orphanet,324708,ORPHA:324708,9,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017490,Orphanet,324708,ORPHA:324708,9,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017490,Orphanet,324708,ORPHA:324708,9,HP:0100659,Abnormal cerebral vascular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017491,Orphanet,324713,ORPHA:324713,7,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017491,Orphanet,324713,ORPHA:324713,7,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0017491,Orphanet,324713,ORPHA:324713,7,HP:0001259,Coma,Frequent (79-30%),TAS,,,,,y,y +GARD:0017491,Orphanet,324713,ORPHA:324713,7,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,,y,y +GARD:0017491,Orphanet,324713,ORPHA:324713,7,HP:0001297,Stroke,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017491,Orphanet,324713,ORPHA:324713,7,HP:0001342,Cerebral hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017491,Orphanet,324713,ORPHA:324713,7,HP:0002076,Migraine,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017493,Orphanet,324723,ORPHA:324723,2,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017493,Orphanet,324723,ORPHA:324723,2,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Very frequent (99-80%),TAS,,,,,y,y +GARD:0017498,Orphanet,329228,ORPHA:329228,9,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:23178126],y,y +GARD:0017498,Orphanet,329228,ORPHA:329228,9,HP:0001317,Abnormal cerebellum morphology,Very frequent (99-80%),TAS,,,,[PMID:23178126],y,y +GARD:0017498,Orphanet,329228,ORPHA:329228,9,HP:0002060,Abnormal cerebral morphology,Very frequent (99-80%),TAS,,,,[PMID:23178126],y,y +GARD:0017498,Orphanet,329228,ORPHA:329228,9,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,[PMID:23178126],y,y +GARD:0017498,Orphanet,329228,ORPHA:329228,9,HP:0002472,Small cerebral cortex,Very frequent (99-80%),TAS,,,,[PMID:23178126],y,y +GARD:0017498,Orphanet,329228,ORPHA:329228,9,HP:0002538,Abnormal cerebral cortex morphology,Very frequent (99-80%),TAS,,,,[PMID:23178126],y,y +GARD:0017498,Orphanet,329228,ORPHA:329228,9,HP:0009879,Simplified gyral pattern,Very frequent (99-80%),TAS,,,,[PMID:23178126],y,y +GARD:0017498,Orphanet,329228,ORPHA:329228,9,HP:0012444,Brain atrophy,Very frequent (99-80%),TAS,,,,[PMID:23178126],y,y +GARD:0017498,Orphanet,329228,ORPHA:329228,9,HP:0012757,Abnormal neuron morphology,Very frequent (99-80%),TAS,,,,[PMID:23178126],y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0000590,Progressive external ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0003325,Limb-girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0003390,Sensory axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0003558,Viral infection-induced rhabdomyolysis,Occasional (29-5%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0003749,Pelvic girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0003797,Limb-girdle muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0008615,Adult onset sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0025406,Asthenia,Occasional (29-5%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017501,Orphanet,329314,ORPHA:329314,21,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:23043144, PMID:27858775, PMID:30283818]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0000590,Progressive external ophthalmoplegia,Obligate (100%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0002361,Psychomotor deterioration,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0002406,Limb dysmetria,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0002522,Areflexia of lower limbs,Frequent (79-30%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0002549,Deficit in phonologic short-term memory,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0003133,Abnormality of the spinocerebellar tracts,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0003546,Exercise intolerance,Very frequent (99-80%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0003690,Limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0003722,Neck flexor weakness,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0003738,Exercise-induced myalgia,Frequent (79-30%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0005150,Abnormal atrioventricular conduction,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0006957,Loss of ability to walk,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0007141,Sensorimotor neuropathy,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0030196,Fatigable weakness of respiratory muscles,Frequent (79-30%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017503,Orphanet,329336,ORPHA:329336,32,HP:0030319,Weakness of facial musculature,Frequent (79-30%),TAS,,,,"[PMID:22987704, PMID:23446635, PMID:26094573, PMID:7732787]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0000790,Hematuria,Very frequent (99-80%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0000793,Membranoproliferative glomerulonephritis,Frequent (79-30%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0003259,Elevated circulating creatinine concentration,Frequent (79-30%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0003774,Stage 5 chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0005421,Decreased serum complement C3,Frequent (79-30%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0009125,Lipodystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0011510,Drusen,Occasional (29-5%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0012574,Mesangial hypercellularity,Frequent (79-30%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0025364,Glomerular extracapillary hypercellularity,Frequent (79-30%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0025567,Central serous chorioretinopathy,Occasional (29-5%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0030469,Abnormal dark-adapted electroretinogram,Occasional (29-5%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0030506,Yellow/white lesions of the retina,Occasional (29-5%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0030888,C3 nephritic factor positivity,Frequent (79-30%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0031047,Paraproteinemia,Frequent (79-30%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017507,Orphanet,329918,ORPHA:329918,23,HP:0045042,Decreased serum complement C4,Occasional (29-5%),TAS,,,,"[PMID:20301598, PMID:30077216, PMID:30692664]",y,y +GARD:0017508,Orphanet,329971,ORPHA:329971,11,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:26672891, PMID:27072264, PMID:29169633]",y,y +GARD:0017508,Orphanet,329971,ORPHA:329971,11,HP:0001017,Anemic pallor,Frequent (79-30%),TAS,,,,"[PMID:20301642, PMID:26672891, PMID:27072264, PMID:29169633]",y,y +GARD:0017508,Orphanet,329971,ORPHA:329971,11,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:26672891, PMID:27072264, PMID:29169633]",y,y +GARD:0017508,Orphanet,329971,ORPHA:329971,11,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,"[PMID:20301642, PMID:26672891, PMID:27072264, PMID:29169633]",y,y +GARD:0017508,Orphanet,329971,ORPHA:329971,11,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:20301642, PMID:26672891, PMID:27072264, PMID:29169633]",y,y +GARD:0017508,Orphanet,329971,ORPHA:329971,11,HP:0002573,Hematochezia,Frequent (79-30%),TAS,,,,"[PMID:20301642, PMID:26672891, PMID:27072264, PMID:29169633]",y,y +GARD:0017508,Orphanet,329971,ORPHA:329971,11,HP:0004394,Multiple gastric polyps,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:26672891, PMID:27072264, PMID:29169633]",y,y +GARD:0017508,Orphanet,329971,ORPHA:329971,11,HP:0004783,Duodenal polyposis,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:26672891, PMID:27072264, PMID:29169633]",y,y +GARD:0017508,Orphanet,329971,ORPHA:329971,11,HP:0005227,Adenomatous colonic polyposis,Frequent (79-30%),TAS,,,,"[PMID:20301642, PMID:26672891, PMID:27072264, PMID:29169633]",y,y +GARD:0017508,Orphanet,329971,ORPHA:329971,11,HP:0030256,Small intestinal polyposis,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:26672891, PMID:27072264, PMID:29169633]",y,y +GARD:0017508,Orphanet,329971,ORPHA:329971,11,HP:0100896,Rectal polyposis,Frequent (79-30%),TAS,,,,"[PMID:20301642, PMID:26672891, PMID:27072264, PMID:29169633]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0001488,Bilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0002133,Status epilepticus,Frequent (79-30%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0002357,Dysphasia,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0002506,Diffuse cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0006801,Hyperactive deep tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0010553,Oculogyric crisis,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0012103,Abnormality of the mitochondrion,Very frequent (99-80%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0012569,Delayed menarche,Occasional (29-5%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0012707,Elevated brain lactate level by MRS,Frequent (79-30%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017509,Orphanet,330050,ORPHA:330050,30,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:26604000, PMID:27145208, PMID:30850373]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0000641,Dysmetric saccades,Occasional (29-5%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0001350,Slurred speech,Frequent (79-30%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017516,Orphanet,352403,ORPHA:352403,20,HP:0008003,Jerky ocular pursuit movements,Occasional (29-5%),TAS,,,,"[PMID:23236289, PMID:23838597, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0000590,Progressive external ophthalmoplegia,Very frequent (99-80%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0000651,Diplopia,Excluded (0%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0000815,Hypergonadotropic hypogonadism,Very rare (<4-1%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0001272,Cerebellar atrophy,Very rare (<4-1%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0001644,Dilated cardiomyopathy,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0002014,Diarrhea,Very rare (<4-1%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0002747,Respiratory insufficiency due to muscle weakness,Occasional (29-5%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0003200,Ragged-red muscle fibers,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0003306,Spinal rigidity,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0003700,Generalized amyotrophy,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0008443,Spinal deformities,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0030319,Weakness of facial musculature,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017517,Orphanet,352447,ORPHA:352447,32,HP:0040013,Decreased mitochondrial number,Frequent (79-30%),TAS,,,,[PMID:23313956],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0000590,Progressive external ophthalmoplegia,Very frequent (99-80%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0000716,Depression,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0001533,Slender build,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0003325,Limb-girdle muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0003391,Gowers sign,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0003737,Mitochondrial myopathy,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0004673,Decreased facial expression,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0007970,Congenital ptosis,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0008331,Elevated creatine kinase after exercise,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017518,Orphanet,352470,ORPHA:352470,21,HP:0040013,Decreased mitochondrial number,Frequent (79-30%),TAS,,,,[PMID:23352259],y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0000478,Abnormality of the eye,Very rare (<4-1%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0001626,Abnormality of the cardiovascular system,Frequent (79-30%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0002505,Loss of ambulation,Occasional (29-5%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0002792,Reduced vital capacity,Frequent (79-30%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0003325,Limb-girdle muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0003691,Scapular winging,Occasional (29-5%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0003707,Calf muscle pseudohypertrophy,Frequent (79-30%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0008305,Exercise-induced myoglobinuria,Occasional (29-5%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0008997,Proximal muscle weakness in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0011446,Abnormality of higher mental function,Very rare (<4-1%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0030046,Hypoglycosylation of alpha-dystroglycan,Very frequent (99-80%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017519,Orphanet,352479,ORPHA:352479,16,HP:0030234,Highly elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:23390185, PMID:26810373]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0002803,Congenital contracture,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0004283,Narrow palm,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0005274,Prominent nasal tip,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0006184,Decreased palmar creases,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0008762,Repetitive compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0009183,Joint contracture of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0009473,Joint contracture of the hand,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0012443,Abnormality of brain morphology,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0025112,Sound sensitivity,Frequent (79-30%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0100021,Cerebral palsy,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017520,Orphanet,352490,ORPHA:352490,55,HP:0100277,Periauricular skin pits,Occasional (29-5%),TAS,,,,"[PMID:23332918, PMID:27075013]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0000643,Blepharospasm,Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0002123,Generalized myoclonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0006891,Thick cerebral cortex,Frequent (79-30%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0011171,Simple febrile seizure,Frequent (79-30%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0011197,EEG with focal spike waves,Frequent (79-30%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0025100,Abnormal hippocampus morphology,Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0025190,Bilateral tonic-clonic seizure with generalized onset,Frequent (79-30%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0025373,Interictal EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0032388,Periventricular nodular heterotopia,Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017521,Orphanet,352582,ORPHA:352582,25,HP:0045084,Limb myoclonus,Occasional (29-5%),TAS,,,,"[PMID:10741954, PMID:20797691, PMID:23517570, PMID:25719194]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0001326,EEG with irregular generalized spike and wave complexes,Frequent (79-30%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0002133,Status epilepticus,Frequent (79-30%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0002188,Delayed CNS myelination,Frequent (79-30%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0002506,Diffuse cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0002788,Recurrent upper respiratory tract infections,Very frequent (99-80%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0008935,Generalized neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0025152,Poor visual behavior for age,Occasional (29-5%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0100275,Diffuse cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017522,Orphanet,352596,ORPHA:352596,22,HP:0200134,Epileptic encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:21087195, PMID:23526554]",y,y +GARD:0017526,Orphanet,352682,ORPHA:352682,13,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,[PMID:23472759],y,y +GARD:0017526,Orphanet,352682,ORPHA:352682,13,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,[PMID:23472759],y,y +GARD:0017526,Orphanet,352682,ORPHA:352682,13,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:23472759],y,y +GARD:0017526,Orphanet,352682,ORPHA:352682,13,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,[PMID:23472759],y,y +GARD:0017526,Orphanet,352682,ORPHA:352682,13,HP:0002085,Occipital encephalocele,Frequent (79-30%),TAS,,,,[PMID:23472759],y,y +GARD:0017526,Orphanet,352682,ORPHA:352682,13,HP:0002282,Gray matter heterotopia,Frequent (79-30%),TAS,,,,[PMID:23472759],y,y +GARD:0017526,Orphanet,352682,ORPHA:352682,13,HP:0002365,Hypoplasia of the brainstem,Frequent (79-30%),TAS,,,,[PMID:23472759],y,y +GARD:0017526,Orphanet,352682,ORPHA:352682,13,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,[PMID:23472759],y,y +GARD:0017526,Orphanet,352682,ORPHA:352682,13,HP:0003457,EMG abnormality,Excluded (0%),TAS,,,,[PMID:23472759],y,y +GARD:0017526,Orphanet,352682,ORPHA:352682,13,HP:0007260,Type II lissencephaly,Frequent (79-30%),TAS,,,,[PMID:23472759],y,y +GARD:0017526,Orphanet,352682,ORPHA:352682,13,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,[PMID:23472759],y,y +GARD:0017526,Orphanet,352682,ORPHA:352682,13,HP:0012447,Abnormal myelination,Frequent (79-30%),TAS,,,,[PMID:23472759],y,y +GARD:0017526,Orphanet,352682,ORPHA:352682,13,HP:0032398,Dysgyria,Frequent (79-30%),TAS,,,,[PMID:23472759],y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000034,Hydrocele testis,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000189,Narrow palate,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000273,Facial grimacing,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000388,Otitis media,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000559,Corneal scarring,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000579,Nasolacrimal duct obstruction,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000589,Coloboma,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000695,Natal tooth,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000735,Impaired social interactions,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000756,Agoraphobia,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0000932,Abnormal posterior cranial fossa morphology,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001128,Trichiasis,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001159,Syndactyly,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001642,Pulmonic stenosis,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001647,Bicuspid aortic valve,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001650,Aortic valve stenosis,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001680,Coarctation of aorta,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0002099,Asthma,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0002341,Cervical cord compression,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0002353,EEG abnormality,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0002566,Intestinal malrotation,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0002835,Aspiration,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0002858,Meningioma,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0003319,Abnormality of the cervical spine,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0003396,Syringomyelia,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0005322,Prominent nasal septum,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0005363,Humoral immunodeficiency,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0005374,Cellular immunodeficiency,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0005484,Secondary microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0006200,Widened distal phalanges,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0007086,Social and occupational deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0007099,Chiari type I malformation,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0008752,Laryngeal cartilage malformation,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0009765,Low hanging columella,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0009834,Abnormal proximal phalanx morphology of the hand,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0009836,Broad distal phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0010051,Deviation of the hallux,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0010055,Broad hallux,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0010442,Polydactyly,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0010562,Keloids,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0010674,Abnormality of the curvature of the vertebral column,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0010775,Vascular ring,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0011087,Talon cusp,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0025269,Panic attack,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0030047,Abnormal lateral ventricle morphology,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0030434,Pilomatrixoma,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0031251,Abnormal subclavian artery morphology,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0031546,Cardiac conduction abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0100710,Impulsivity,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0100852,Abnormal fear/anxiety-related behavior,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017534,Orphanet,353277,ORPHA:353277,123,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000034,Hydrocele testis,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000189,Narrow palate,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000273,Facial grimacing,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000388,Otitis media,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000559,Corneal scarring,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000579,Nasolacrimal duct obstruction,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000589,Coloboma,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000695,Natal tooth,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000735,Impaired social interactions,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000756,Agoraphobia,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0000932,Abnormal posterior cranial fossa morphology,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001128,Trichiasis,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001159,Syndactyly,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001181,Adducted thumb,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001642,Pulmonic stenosis,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001647,Bicuspid aortic valve,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001650,Aortic valve stenosis,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001680,Coarctation of aorta,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0002099,Asthma,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0002341,Cervical cord compression,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0002353,EEG abnormality,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0002566,Intestinal malrotation,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0002835,Aspiration,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0002858,Meningioma,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0003319,Abnormality of the cervical spine,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0003396,Syringomyelia,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0005322,Prominent nasal septum,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0005363,Humoral immunodeficiency,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0005374,Cellular immunodeficiency,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0005484,Secondary microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0006200,Widened distal phalanges,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0007086,Social and occupational deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0007099,Chiari type I malformation,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0008752,Laryngeal cartilage malformation,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0009765,Low hanging columella,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0009834,Abnormal proximal phalanx morphology of the hand,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0009836,Broad distal phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0010051,Deviation of the hallux,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0010055,Broad hallux,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0010442,Polydactyly,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0010562,Keloids,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0010674,Abnormality of the curvature of the vertebral column,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0010775,Vascular ring,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0011087,Talon cusp,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0025269,Panic attack,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0030047,Abnormal lateral ventricle morphology,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0030434,Pilomatrixoma,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0031251,Abnormal subclavian artery morphology,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0031546,Cardiac conduction abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0100710,Impulsivity,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0100852,Abnormal fear/anxiety-related behavior,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017535,Orphanet,353284,ORPHA:353284,123,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:31637876]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0002460,Distal muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0003200,Ragged-red muscle fibers,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0003325,Limb-girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0003388,Easy fatigability,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0003391,Gowers sign,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0003403,EMG: decremental response of compound muscle action potential to repetitive nerve stimulation,Frequent (79-30%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0003473,Fatigable weakness,Frequent (79-30%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0003551,Difficulty climbing stairs,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0003691,Scapular winging,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0003803,Type 1 muscle fiber predominance,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0009028,Generalized weakness of limb muscles,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0009046,Difficulty running,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0030191,Abnormal peripheral nervous system synaptic transmission,Frequent (79-30%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0030202,Favorable response of weakness to acetylcholine esterase inhibitors,Frequent (79-30%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0030205,Increased jitter at single fiber EMG,Frequent (79-30%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017539,Orphanet,353327,ORPHA:353327,36,HP:0100301,Muscle fiber tubular inclusions,Frequent (79-30%),TAS,,,,"[PMID:12467753, PMID:16917026, PMID:22742743, PMID:23404334, PMID:24461433, PMID:8664562]",y,y +GARD:0017541,Orphanet,356996,ORPHA:356996,13,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:23390136, PMID:28687526]",y,y +GARD:0017541,Orphanet,356996,ORPHA:356996,13,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:23390136, PMID:28687526]",y,y +GARD:0017541,Orphanet,356996,ORPHA:356996,13,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:23390136, PMID:28687526]",y,y +GARD:0017541,Orphanet,356996,ORPHA:356996,13,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:23390136, PMID:28687526]",y,y +GARD:0017541,Orphanet,356996,ORPHA:356996,13,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:23390136, PMID:28687526]",y,y +GARD:0017541,Orphanet,356996,ORPHA:356996,13,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:23390136, PMID:28687526]",y,y +GARD:0017541,Orphanet,356996,ORPHA:356996,13,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:23390136, PMID:28687526]",y,y +GARD:0017541,Orphanet,356996,ORPHA:356996,13,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:23390136, PMID:28687526]",y,y +GARD:0017541,Orphanet,356996,ORPHA:356996,13,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:23390136, PMID:28687526]",y,y +GARD:0017541,Orphanet,356996,ORPHA:356996,13,HP:0001520,Large for gestational age,Occasional (29-5%),TAS,,,,"[PMID:23390136, PMID:28687526]",y,y +GARD:0017541,Orphanet,356996,ORPHA:356996,13,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:23390136, PMID:28687526]",y,y +GARD:0017541,Orphanet,356996,ORPHA:356996,13,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:23390136, PMID:28687526]",y,y +GARD:0017541,Orphanet,356996,ORPHA:356996,13,HP:0003763,Bruxism,Frequent (79-30%),TAS,,,,"[PMID:23390136, PMID:28687526]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0001869,Deep plantar creases,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0007099,Chiari type I malformation,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0007333,Hypoplasia of the frontal lobes,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0007371,Corpus callosum atrophy,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0010880,Increased nuchal translucency,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0012719,Functional abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017542,Orphanet,357001,ORPHA:357001,47,HP:0100807,Long fingers,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:26338046]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000253,Progressive microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0000973,Cutis laxa,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0001302,Pachygyria,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0001305,Dandy-Walker malformation,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0001339,Lissencephaly,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0001374,Congenital hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0001476,Delayed closure of the anterior fontanelle,Obligate (100%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0002097,Emphysema,Excluded (0%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0002126,Polymicrogyria,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0002187,"Intellectual disability, profound",Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0002208,Coarse hair,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0002361,Psychomotor deterioration,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0002465,Poor speech,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0002761,Generalized joint laxity,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0003160,Abnormal isoelectric focusing of serum transferrin,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0003199,Decreased muscle mass,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0005272,Prominent nasolabial fold,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0005989,Redundant neck skin,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0006891,Thick cerebral cortex,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0007392,Excessive wrinkled skin,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0007457,Prominent veins on trunk,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0007552,Abnormal subcutaneous fat tissue distribution,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0009125,Lipodystrophy,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0010989,Abnormality of the intrinsic pathway,Occasional (29-5%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0011003,High myopia,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0025167,Fragmented elastic fibers in the dermis,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0025201,Abnormal circulating apolipoprotein concentration,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0025244,Subretinal pigment epithelium hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017546,Orphanet,357074,ORPHA:357074,57,HP:0100874,Thick hair,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:15657616, PMID:16780467, PMID:18157129, PMID:18716235, PMID:19321599, PMID:19401719, PMID:24478233, PMID:3321993, PMID:4765201, PMID:5579863, PMID:8500259, PMID:9916839]",y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0003022,Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0005469,Flat occiput,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0009928,Thick nasal alae,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,[PMID:20950399],y,y +GARD:0017548,Orphanet,357175,ORPHA:357175,25,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,[PMID:20950399],y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0002133,Status epilepticus,Very rare (<4-1%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0002273,Tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0002275,Poor motor coordination,Frequent (79-30%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0002340,Caudate atrophy,Occasional (29-5%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0002448,Progressive encephalopathy,Obligate (100%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0002451,Limb dystonia,Occasional (29-5%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0002529,Neuronal loss in central nervous system,Occasional (29-5%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0003758,Reduced subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0007272,Progressive psychomotor deterioration,Very frequent (99-80%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0009064,Generalized lipodystrophy,Very frequent (99-80%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0025128,Reduced intraabdominal adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017552,Orphanet,363400,ORPHA:363400,37,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:23564749, PMID:27710244]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0000543,Optic disc pallor,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0000571,Hypometric saccades,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0000657,Oculomotor apraxia,Very frequent (99-80%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0000666,Horizontal nystagmus,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0001250,Seizure,Excluded (0%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0001583,Rotary nystagmus,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0002828,Multiple joint contractures,Occasional (29-5%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0006951,Retrocerebellar cyst,Occasional (29-5%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0007221,Progressive truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017556,Orphanet,363429,ORPHA:363429,32,HP:0100275,Diffuse cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:22901947, PMID:23611888, PMID:24078737]",y,y +GARD:0017557,Orphanet,363432,ORPHA:363432,11,HP:0000640,Gaze-evoked nystagmus,Frequent (79-30%),TAS,,,,[PMID:24078737],y,y +GARD:0017557,Orphanet,363432,ORPHA:363432,11,HP:0000666,Horizontal nystagmus,Frequent (79-30%),TAS,,,,[PMID:24078737],y,y +GARD:0017557,Orphanet,363432,ORPHA:363432,11,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:24078737],y,y +GARD:0017557,Orphanet,363432,ORPHA:363432,11,HP:0002070,Limb ataxia,Very frequent (99-80%),TAS,,,,[PMID:24078737],y,y +GARD:0017557,Orphanet,363432,ORPHA:363432,11,HP:0002078,Truncal ataxia,Very frequent (99-80%),TAS,,,,[PMID:24078737],y,y +GARD:0017557,Orphanet,363432,ORPHA:363432,11,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,[PMID:24078737],y,y +GARD:0017557,Orphanet,363432,ORPHA:363432,11,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:24078737],y,y +GARD:0017557,Orphanet,363432,ORPHA:363432,11,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,[PMID:24078737],y,y +GARD:0017557,Orphanet,363432,ORPHA:363432,11,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,[PMID:24078737],y,y +GARD:0017557,Orphanet,363432,ORPHA:363432,11,HP:0012444,Brain atrophy,Frequent (79-30%),TAS,,,,[PMID:24078737],y,y +GARD:0017557,Orphanet,363432,ORPHA:363432,11,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,[PMID:24078737],y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000010,Recurrent urinary tract infections,Frequent (79-30%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000215,Thick upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000220,Velopharyngeal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000307,Pointed chin,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0003189,Long nose,Very frequent (99-80%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0006989,Dysplastic corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0008209,Premature ovarian insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0009765,Low hanging columella,Very frequent (99-80%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0009890,High anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0010282,Thin lower lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0011623,Muscular ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0011682,Perimembranous ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0012382,Left-to-right shunt,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0030127,Endometriosis,Occasional (29-5%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017558,Orphanet,363444,ORPHA:363444,44,HP:0040196,Mild microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:20503307, PMID:26739162, PMID:27102954, PMID:30476144]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0000972,Palmoplantar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0001954,Recurrent fever,Frequent (79-30%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0003160,Abnormal isoelectric focusing of serum transferrin,Excluded (0%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0005338,Sparse lateral eyebrow,Frequent (79-30%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0005484,Secondary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0012434,Delayed social development,Frequent (79-30%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017562,Orphanet,363523,ORPHA:363523,16,HP:0040196,Mild microcephaly,Occasional (29-5%),TAS,,,,"[PMID:23606727, PMID:26260076]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000164,Abnormality of the dentition,Very rare (<4-1%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000418,Narrow nasal ridge,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000776,Congenital diaphragmatic hernia,Very rare (<4-1%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001274,Agenesis of corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001288,Gait disturbance,Very rare (<4-1%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001771,Achilles tendon contracture,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0001838,Rocker bottom foot,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0002079,Hypoplasia of the corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0002172,Postural instability,Very rare (<4-1%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0005879,Congenital finger flexion contractures,Very rare (<4-1%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0007162,Diffuse demyelination of the cerebral white matter,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0009473,Joint contracture of the hand,Very rare (<4-1%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0009830,Peripheral neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0011968,Feeding difficulties,Very rare (<4-1%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0012408,Medullary nephrocalcinosis,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0012450,Chronic constipation,Very rare (<4-1%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0030353,Decreased serum insulin-like growth factor 1,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0031123,Recurrent gastroenteritis,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0100702,Arachnoid cyst,Very rare (<4-1%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017563,Orphanet,363528,ORPHA:363528,72,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:23620220, PMID:26842963, PMID:31687266]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000059,Hypoplastic labia majora,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000378,Cupped ear,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000675,Macrodontia of permanent maxillary central incisor,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000954,Single transverse palmar crease,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0000998,Hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0001212,Prominent fingertip pads,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0001741,Phimosis,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0002000,Short columella,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0002783,Recurrent lower respiratory tract infections,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0006528,Chronic lung disease,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0006579,Prolonged neonatal jaundice,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0009183,Joint contracture of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0010059,Broad hallux phalanx,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0025116,Fetal distress,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0025160,Abnormal temper tantrums,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0040223,Pulmonary hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017566,Orphanet,363611,ORPHA:363611,71,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:23746550, PMID:28619046]",y,y +GARD:0017567,Orphanet,363654,ORPHA:363654,14,HP:0000298,Mask-like facies,Occasional (29-5%),TAS,,,,[PMID:20629132],y,y +GARD:0017567,Orphanet,363654,ORPHA:363654,14,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:20629132],y,y +GARD:0017567,Orphanet,363654,ORPHA:363654,14,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:20629132],y,y +GARD:0017567,Orphanet,363654,ORPHA:363654,14,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,[PMID:20629132],y,y +GARD:0017567,Orphanet,363654,ORPHA:363654,14,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,[PMID:20629132],y,y +GARD:0017567,Orphanet,363654,ORPHA:363654,14,HP:0002322,Resting tremor,Very frequent (99-80%),TAS,,,,[PMID:20629132],y,y +GARD:0017567,Orphanet,363654,ORPHA:363654,14,HP:0002396,Cogwheel rigidity,Very frequent (99-80%),TAS,,,,[PMID:20629132],y,y +GARD:0017567,Orphanet,363654,ORPHA:363654,14,HP:0002506,Diffuse cerebral atrophy,Occasional (29-5%),TAS,,,,[PMID:20629132],y,y +GARD:0017567,Orphanet,363654,ORPHA:363654,14,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:20629132],y,y +GARD:0017567,Orphanet,363654,ORPHA:363654,14,HP:0006801,Hyperactive deep tendon reflexes,Frequent (79-30%),TAS,,,,[PMID:20629132],y,y +GARD:0017567,Orphanet,363654,ORPHA:363654,14,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,[PMID:20629132],y,y +GARD:0017567,Orphanet,363654,ORPHA:363654,14,HP:0007082,Dilated third ventricle,Occasional (29-5%),TAS,,,,[PMID:20629132],y,y +GARD:0017567,Orphanet,363654,ORPHA:363654,14,HP:0011448,Ankle clonus,Occasional (29-5%),TAS,,,,[PMID:20629132],y,y +GARD:0017567,Orphanet,363654,ORPHA:363654,14,HP:0012407,Scissor gait,Occasional (29-5%),TAS,,,,[PMID:20629132],y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000126,Hydronephrosis,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000246,Sinusitis,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000475,Broad neck,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000957,Cafe-au-lait spot,Very frequent (99-80%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0000997,Axillary freckling,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001028,Hemangioma,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001176,Large hands,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001631,Atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001634,Mitral valve prolapse,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001639,Hypertrophic cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001642,Pulmonic stenosis,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001653,Mitral regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001655,Patent foramen ovale,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001833,Long foot,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0002057,Prominent glabella,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0002315,Headache,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0002751,Kyphoscoliosis,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0002992,Abnormality of tibia morphology,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0003307,Hyperlordosis,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0006479,Abnormal dental pulp morphology,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0008678,Renal hypoplasia/aplasia,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0009734,Optic nerve glioma,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0009735,Spinal neurofibromas,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0009737,Lisch nodules,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0010794,Impaired visuospatial constructive cognition,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0011407,Proportionate tall stature,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0012062,Bone cyst,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0012210,Abnormal renal morphology,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0012733,Macule,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0020035,Lower limb dysmetria,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0030052,Inguinal freckling,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0030426,Ossifying fibroma,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0032252,Granuloma,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0100008,Schwannoma,Very rare (<4-1%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0100697,Neurofibrosarcoma,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0100698,Subcutaneous neurofibromas,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017570,Orphanet,363700,ORPHA:363700,71,HP:0430022,Abnormality of the sphenoid sinus,Occasional (29-5%),TAS,,,,"[PMID:20513137, PMID:26338194, PMID:28213670, PMID:29618358]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0000212,Gingival overgrowth,Very rare (<4-1%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0000938,Osteopenia,Very rare (<4-1%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0000939,Osteoporosis,Very rare (<4-1%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0000973,Cutis laxa,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0000998,Hypertrichosis,Very frequent (99-80%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001015,Prominent superficial veins,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001176,Large hands,Very rare (<4-1%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001256,"Intellectual disability, mild",Very rare (<4-1%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001520,Large for gestational age,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001631,Atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001647,Bicuspid aortic valve,Very rare (<4-1%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001680,Coarctation of aorta,Very rare (<4-1%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0001698,Pericardial effusion,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0002021,Pyloric stenosis,Very rare (<4-1%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0002579,Gastrointestinal dysmotility,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0002708,Prominent median palatal raphe,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0004532,Sacral hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0004540,"Congenital, generalized hypertrichosis",Very frequent (99-80%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0004944,Dilatation of the cerebral artery,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0005314,Anomalous branches of internal carotid artery,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0006094,Finger joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0007517,Palmoplantar cutis laxa,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0011726,Persistent fetal circulation,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0012568,Lower eyelid edema,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0100659,Abnormal cerebral vascular morphology,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0100678,Premature skin wrinkling,Frequent (79-30%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017571,Orphanet,363705,ORPHA:363705,69,HP:0100874,Thick hair,Very frequent (99-80%),TAS,,,,"[PMID:31828977, PMID:34453476, PMID:71513002]",y,y +GARD:0017575,Orphanet,363741,ORPHA:363741,14,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:9098485],y,y +GARD:0017575,Orphanet,363741,ORPHA:363741,14,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,[PMID:9098485],y,y +GARD:0017575,Orphanet,363741,ORPHA:363741,14,HP:0000480,Retinal coloboma,Frequent (79-30%),TAS,,,,[PMID:9098485],y,y +GARD:0017575,Orphanet,363741,ORPHA:363741,14,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,[PMID:9098485],y,y +GARD:0017575,Orphanet,363741,ORPHA:363741,14,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:9098485],y,y +GARD:0017575,Orphanet,363741,ORPHA:363741,14,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,[PMID:9098485],y,y +GARD:0017575,Orphanet,363741,ORPHA:363741,14,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:9098485],y,y +GARD:0017575,Orphanet,363741,ORPHA:363741,14,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,[PMID:9098485],y,y +GARD:0017575,Orphanet,363741,ORPHA:363741,14,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:9098485],y,y +GARD:0017575,Orphanet,363741,ORPHA:363741,14,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,[PMID:9098485],y,y +GARD:0017575,Orphanet,363741,ORPHA:363741,14,HP:0003241,External genital hypoplasia,Frequent (79-30%),TAS,,,,[PMID:9098485],y,y +GARD:0017575,Orphanet,363741,ORPHA:363741,14,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,[PMID:9098485],y,y +GARD:0017575,Orphanet,363741,ORPHA:363741,14,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,[PMID:9098485],y,y +GARD:0017575,Orphanet,363741,ORPHA:363741,14,HP:0100702,Arachnoid cyst,Occasional (29-5%),TAS,,,,[PMID:9098485],y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000075,Renal duplication,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000447,Pear-shaped nose,Very frequent (99-80%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000748,Inappropriate laughter,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000824,Decreased response to growth hormone stimulation test,Very rare (<4-1%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0000968,Ectodermal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001028,Hemangioma,Very rare (<4-1%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001054,Numerous nevi,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001212,Prominent fingertip pads,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001533,Slender build,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001848,Calcaneovalgus deformity,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0002011,Morphological central nervous system abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0002286,Fair hair,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0002779,Tracheomalacia,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0002861,Melanoma,Very rare (<4-1%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0003302,Spondylolisthesis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0005216,Impaired mastication,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0005656,Positional foot deformity,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0006482,Abnormality of dental morphology,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0006813,Focal hemiclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0007099,Chiari type I malformation,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0008207,Primary adrenal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0008445,Cervical spinal canal stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0009130,Hand muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0009928,Thick nasal alae,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0010788,Testicular neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0010945,Fetal pyelectasis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0011182,Interictal epileptiform activity,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0011185,EEG with focal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0011822,Broad chin,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0012433,Abnormal social behavior,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0012683,Pineal cyst,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0012699,Anomaly of lower limb diaphyses,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0025268,Stuttering,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0030746,Intraventricular hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0100025,Overfriendliness,Very frequent (99-80%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017576,Orphanet,363958,ORPHA:363958,124,HP:0100775,Dural ectasia,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000188,Short upper lip,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000189,Narrow palate,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000297,Facial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000336,Prominent supraorbital ridges,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000675,Macrodontia of permanent maxillary central incisor,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000742,Self-mutilation,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0000817,Poor eye contact,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0001533,Slender build,Frequent (79-30%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0002816,Genu recurvatum,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0006863,Severe expressive language delay,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0006951,Retrocerebellar cyst,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0006979,Sleep-wake cycle disturbance,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0007021,Pain insensitivity,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0007655,Eversion of lateral third of lower eyelids,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0009909,Uplifted earlobe,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017581,Orphanet,364028,ORPHA:364028,57,HP:0030236,Abnormality of muscle size,Occasional (29-5%),TAS,,,,"[PMID:17989220, PMID:19449417, PMID:22124977, PMID:23637084, PMID:24721225]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000171,Microglossia,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000201,Pierre-Robin sequence,Frequent (79-30%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000385,Small earlobe,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000677,Oligodontia,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0000996,Facial capillary hemangioma,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0001792,Small nail,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0002000,Short columella,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0002263,Exaggerated cupid's bow,Frequent (79-30%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0006289,Agenesis of central incisor,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0009246,Aplasia of the distal phalanx of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0010752,Cleft mandible,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0010804,Tented upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0011078,Abnormality of canine,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0011341,Long upper lip,Frequent (79-30%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0011401,Delayed peripheral myelination,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0012370,Prominence of the zygomatic bone,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0045074,Thin eyebrow,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017583,Orphanet,364577,ORPHA:364577,43,HP:0100380,Aplasia of the distal phalanx of the 5th toe,Occasional (29-5%),TAS,,,,"[PMID:11337748, PMID:15057987]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000079,Abnormality of the urinary system,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000121,Nephrocalcinosis,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000341,Narrow forehead,Very frequent (99-80%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000829,Hypoparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0001382,Joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0001723,Restrictive cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002150,Hypercalciuria,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002155,Hypertriglyceridemia,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002263,Exaggerated cupid's bow,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002283,Global brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002720,Decreased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002850,Decreased circulating total IgM,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0003072,Hypercalcemia,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0003100,Slender long bone,Very frequent (99-80%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0003282,Low alkaline phosphatase,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0006480,Premature loss of teeth,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0006961,Jerky head movements,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0008676,Congenital megaureter,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0009824,Upper limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0010536,Central sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0010804,Tented upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0010818,Generalized tonic seizure,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0010841,Multifocal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0010850,EEG with spike-wave complexes,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0011199,EEG with generalized sharp slow waves,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0011842,Abnormal skeletal morphology,Very frequent (99-80%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0012373,Abnormal eye physiology,Frequent (79-30%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0012718,Morphological abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0025330,Downgaze palsy,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0030856,Posterior staphyloma,Occasional (29-5%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017584,Orphanet,369837,ORPHA:369837,71,HP:0100704,Cerebral visual impairment,Very frequent (99-80%),TAS,,,,"[PMID:25943031, PMID:28728837]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000311,Round face,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000687,Widely spaced teeth,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000711,Restlessness,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0001159,Syndactyly,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0002236,Frontal upsweep of hair,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0002311,Incoordination,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0005612,Arthrogryposis-like hand anomaly,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0007633,Bilateral microphthalmos,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0007700,Ocular anterior segment dysgenesis,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0010841,Multifocal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0011228,Horizontal eyebrow,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017588,Orphanet,369891,ORPHA:369891,66,HP:0100025,Overfriendliness,Occasional (29-5%),TAS,,,,"[PMID:25758992, PMID:29959045]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0000822,Hypertension,Obligate (100%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0000859,Hyperaldosteronism,Obligate (100%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0001258,Spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0001714,Ventricular hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0001959,Polydipsia,Frequent (79-30%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0002092,Pulmonary arterial hypertension,Frequent (79-30%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0002305,Athetosis,Frequent (79-30%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0002384,Focal impaired awareness seizure,Frequent (79-30%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0008221,Adrenal hyperplasia,Very rare (<4-1%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0011166,Focal myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0011410,Caesarian section,Frequent (79-30%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0011706,Second degree atrioventricular block,Frequent (79-30%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0011739,Dexamethasone-suppressible primary hyperaldosteronism,Excluded (0%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0040084,Abnormal circulating renin,Obligate (100%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0100021,Cerebral palsy,Very frequent (99-80%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0100285,EMG: impaired neuromuscular transmission,Frequent (79-30%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017591,Orphanet,369929,ORPHA:369929,30,HP:0200114,Metabolic alkalosis,Frequent (79-30%),TAS,,,,"[PMID:23913001, PMID:26934393, PMID:27036860]",y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0001954,Recurrent fever,Frequent (79-30%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0002445,Tetraplegia,Frequent (79-30%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0003429,CNS hypomyelination,Occasional (29-5%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0006808,Cerebral hypomyelination,Frequent (79-30%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0007371,Corpus callosum atrophy,Occasional (29-5%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,[PMID:24011989],y,y +GARD:0017592,Orphanet,369939,ORPHA:369939,20,HP:0012762,Cerebral white matter atrophy,Occasional (29-5%),TAS,,,,[PMID:24011989],y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0000556,Retinal dystrophy,Occasional (29-5%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0000646,Amblyopia,Frequent (79-30%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0000750,Delayed speech and language development,Very rare (<4-1%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0001105,Retinal atrophy,Frequent (79-30%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0002198,Dilated fourth ventricle,Very frequent (99-80%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0002350,Cerebellar cyst,Very frequent (99-80%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0002363,Abnormal brainstem morphology,Frequent (79-30%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0002599,Head titubation,Occasional (29-5%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0007033,Cerebellar dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0007068,Inferior cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0011933,Elongated superior cerebellar peduncle,Frequent (79-30%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017597,Orphanet,370022,ORPHA:370022,22,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:24013853, PMID:25105227, PMID:26932191, PMID:28283601]",y,y +GARD:0017598,Orphanet,370091,ORPHA:370091,7,HP:0000218,High palate,Obligate (100%),TAS,,,,[PMID:23050561],y,y +GARD:0017598,Orphanet,370091,ORPHA:370091,7,HP:0000613,Photophobia,Obligate (100%),TAS,,,,[PMID:23050561],y,y +GARD:0017598,Orphanet,370091,ORPHA:370091,7,HP:0000639,Nystagmus,Obligate (100%),TAS,,,,[PMID:23050561],y,y +GARD:0017598,Orphanet,370091,ORPHA:370091,7,HP:0001098,Abnormal fundus morphology,Obligate (100%),TAS,,,,[PMID:23050561],y,y +GARD:0017598,Orphanet,370091,ORPHA:370091,7,HP:0001107,Ocular albinism,Obligate (100%),TAS,,,,[PMID:23050561],y,y +GARD:0017598,Orphanet,370091,ORPHA:370091,7,HP:0007663,Reduced visual acuity,Obligate (100%),TAS,,,,[PMID:23050561],y,y +GARD:0017598,Orphanet,370091,ORPHA:370091,7,HP:0007750,Hypoplasia of the fovea,Obligate (100%),TAS,,,,[PMID:23050561],y,y +GARD:0017599,Orphanet,370097,ORPHA:370097,7,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,[PMID:23364476],y,y +GARD:0017599,Orphanet,370097,ORPHA:370097,7,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,[PMID:23364476],y,y +GARD:0017599,Orphanet,370097,ORPHA:370097,7,HP:0001098,Abnormal fundus morphology,Very frequent (99-80%),TAS,,,,[PMID:23364476],y,y +GARD:0017599,Orphanet,370097,ORPHA:370097,7,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,[PMID:23364476],y,y +GARD:0017599,Orphanet,370097,ORPHA:370097,7,HP:0008034,Abnormal iris pigmentation,Very frequent (99-80%),TAS,,,,[PMID:23364476],y,y +GARD:0017599,Orphanet,370097,ORPHA:370097,7,HP:0008059,Aplasia/Hypoplasia of the macula,Very frequent (99-80%),TAS,,,,[PMID:23364476],y,y +GARD:0017599,Orphanet,370097,ORPHA:370097,7,HP:0030613,Abnormal foveal morphology on macular OCT,Very frequent (99-80%),TAS,,,,[PMID:23364476],y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0000473,Torticollis,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0000520,Proptosis,Very rare (<4-1%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0001965,Abnormal scalp morphology,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0002574,Episodic abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0002894,Neoplasm of the pancreas,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0006254,Elevated alpha-fetoprotein,Very rare (<4-1%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0007340,Lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0010302,Spinal cord tumor,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0010784,Uterine neoplasm,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0011932,Abnormal superior cerebellar peduncle morphology,Very rare (<4-1%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0012513,Upper limb pain,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0025435,Increased circulating lactate dehydrogenase concentration,Very rare (<4-1%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0030067,Peripheral primitive neuroectodermal neoplasm,Obligate (100%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0030692,Brain neoplasm,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0031030,Elevated carcinoma antigen 125 level,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0031501,Pelvic mass,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0100608,Metrorrhagia,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0100615,Ovarian neoplasm,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0100711,Abnormal thoracic spine morphology,Occasional (29-5%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017601,Orphanet,370348,ORPHA:370348,37,HP:0100849,Neoplasm of the scrotum,Very rare (<4-1%),TAS,,,,"[PMID:27613377, PMID:28296680, PMID:29611053, PMID:3037428, PMID:30496933, PMID:30538569, PMID:30774687]",y,y +GARD:0017602,Orphanet,370921,ORPHA:370921,13,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:23842455],y,y +GARD:0017602,Orphanet,370921,ORPHA:370921,13,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,[PMID:23842455],y,y +GARD:0017602,Orphanet,370921,ORPHA:370921,13,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,[PMID:23842455],y,y +GARD:0017602,Orphanet,370921,ORPHA:370921,13,HP:0000252,Microcephaly,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017602,Orphanet,370921,ORPHA:370921,13,HP:0001249,Intellectual disability,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017602,Orphanet,370921,ORPHA:370921,13,HP:0001250,Seizure,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017602,Orphanet,370921,ORPHA:370921,13,HP:0001263,Global developmental delay,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017602,Orphanet,370921,ORPHA:370921,13,HP:0001272,Cerebellar atrophy,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017602,Orphanet,370921,ORPHA:370921,13,HP:0001290,Generalized hypotonia,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017602,Orphanet,370921,ORPHA:370921,13,HP:0001508,Failure to thrive,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017602,Orphanet,370921,ORPHA:370921,13,HP:0007772,Impaired smooth pursuit,Frequent (79-30%),TAS,,,,[PMID:23842455],y,y +GARD:0017602,Orphanet,370921,ORPHA:370921,13,HP:0011968,Feeding difficulties,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017602,Orphanet,370921,ORPHA:370921,13,HP:0012345,Abnormal glycosylation,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0000078,Abnormality of the genital system,Frequent (79-30%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0000252,Microcephaly,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0001249,Intellectual disability,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0001250,Seizure,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0001263,Global developmental delay,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0001272,Cerebellar atrophy,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0001290,Generalized hypotonia,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0001508,Failure to thrive,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0011968,Feeding difficulties,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017603,Orphanet,370924,ORPHA:370924,17,HP:0012345,Abnormal glycosylation,Obligate (100%),TAS,,,,[PMID:23842455],y,y +GARD:0017604,Orphanet,370943,ORPHA:370943,10,HP:0000729,Autistic behavior,Obligate (100%),TAS,,,,[PMID:24031089],y,y +GARD:0017604,Orphanet,370943,ORPHA:370943,10,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:24031089],y,y +GARD:0017604,Orphanet,370943,ORPHA:370943,10,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,[PMID:24031089],y,y +GARD:0017604,Orphanet,370943,ORPHA:370943,10,HP:0001765,Hammertoe,Occasional (29-5%),TAS,,,,[PMID:24031089],y,y +GARD:0017604,Orphanet,370943,ORPHA:370943,10,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,[PMID:24031089],y,y +GARD:0017604,Orphanet,370943,ORPHA:370943,10,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,[PMID:24031089],y,y +GARD:0017604,Orphanet,370943,ORPHA:370943,10,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:24031089],y,y +GARD:0017604,Orphanet,370943,ORPHA:370943,10,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,[PMID:24031089],y,y +GARD:0017604,Orphanet,370943,ORPHA:370943,10,HP:0004976,Knee dislocation,Frequent (79-30%),TAS,,,,[PMID:24031089],y,y +GARD:0017604,Orphanet,370943,ORPHA:370943,10,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,[PMID:24031089],y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0000485,Megalocornea,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0000525,Abnormality iris morphology,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0000541,Retinal detachment,Very rare (<4-1%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0000568,Microphthalmia,Very rare (<4-1%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0000589,Coloboma,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0001638,Cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0002085,Occipital encephalocele,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0002198,Dilated fourth ventricle,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0002282,Gray matter heterotopia,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0002350,Cerebellar cyst,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0002363,Abnormal brainstem morphology,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0002365,Hypoplasia of the brainstem,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0002938,Lumbar hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0003707,Calf muscle pseudohypertrophy,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0003712,Skeletal muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0003741,Congenital muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0006899,Fusion of the cerebellar hemispheres,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0006955,Olivopontocerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0007204,Diffuse white matter abnormalities,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0007260,Type II lissencephaly,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0012110,Hypoplasia of the pons,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0012695,Decreased thalamic volume,Occasional (29-5%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0030046,Hypoglycosylation of alpha-dystroglycan,Very frequent (99-80%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017605,Orphanet,370959,ORPHA:370959,47,HP:0030099,Reduced muscle fiber alpha dystroglycan,Very frequent (99-80%),TAS,,,,"[PMID:19067344, PMID:19299310, PMID:20301468, PMID:27576556, PMID:28688748]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0002518,Abnormal periventricular white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0003325,Limb-girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0003327,Axial muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0003549,Abnormality of connective tissue,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0003712,Skeletal muscle hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0004637,Decreased cervical spine mobility,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0006957,Loss of ability to walk,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0007015,Poor gross motor coordination,Frequent (79-30%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0007361,Abnormal pons morphology,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0008443,Spinal deformities,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0008981,Calf muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0030046,Hypoglycosylation of alpha-dystroglycan,Very frequent (99-80%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0030099,Reduced muscle fiber alpha dystroglycan,Very frequent (99-80%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0030197,Fatigable weakness of skeletal muscles,Frequent (79-30%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017606,Orphanet,370968,ORPHA:370968,43,HP:0040173,Abnormality of the tongue muscle,Occasional (29-5%),TAS,,,,"[PMID:17634419, PMID:17878207, PMID:19299310, PMID:20301468, PMID:30454682]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0001302,Pachygyria,Very rare (<4-1%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0001349,Facial diplegia,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0001771,Achilles tendon contracture,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0002119,Ventriculomegaly,Very rare (<4-1%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0002282,Gray matter heterotopia,Very rare (<4-1%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0002350,Cerebellar cyst,Occasional (29-5%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0003741,Congenital muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0003797,Limb-girdle muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0007126,Proximal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0012548,Fatty replacement of skeletal muscle,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017607,Orphanet,370980,ORPHA:370980,27,HP:0030099,Reduced muscle fiber alpha dystroglycan,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:19299310]",y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0000556,Retinal dystrophy,Occasional (29-5%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0000557,Buphthalmos,Occasional (29-5%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0002126,Polymicrogyria,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0002350,Cerebellar cyst,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0002363,Abnormal brainstem morphology,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0002415,Leukodystrophy,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0007361,Abnormal pons morphology,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0011003,High myopia,Occasional (29-5%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0011197,EEG with focal spike waves,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0025336,Delayed ability to sit,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0030046,Hypoglycosylation of alpha-dystroglycan,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0031882,Agyria,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017608,Orphanet,370997,ORPHA:370997,23,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,[PMID:24052401],y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000565,Esotropia,Very frequent (99-80%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0001525,Severe failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0002510,Spastic tetraplegia,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0003273,Hip contracture,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0003458,EMG: myopathic abnormalities,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0004326,Cachexia,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0009884,Tapered distal phalanges of finger,Very frequent (99-80%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0009931,Enlarged naris,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0100024,Conspicuously happy disposition,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0100963,Hyperesthesia,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017609,Orphanet,371364,ORPHA:371364,55,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:26545877, PMID:26708751, PMID:26708753, PMID:27513830]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0000315,Abnormality of the orbital region,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0000916,Broad clavicles,Frequent (79-30%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001007,Hirsutism,Very frequent (99-80%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001059,Pterygium,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001085,Papilledema,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001230,Broad metacarpals,Frequent (79-30%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001495,Carpal osteolysis,Very frequent (99-80%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001626,Abnormality of the cardiovascular system,Frequent (79-30%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001678,Atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001719,Double outlet right ventricle,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0003040,Arthropathy,Very frequent (99-80%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0005441,Sclerotic cranial sutures,Frequent (79-30%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0005922,Abnormal hand morphology,Very frequent (99-80%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0005994,Nodular goiter,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0006234,Osteolysis involving tarsal bones,Very frequent (99-80%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0009139,Osteolysis involving bones of the lower limbs,Very frequent (99-80%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0010314,Premature thelarche,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0011355,Localized skin lesion,Frequent (79-30%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0045039,Osteolysis involving bones of the upper limbs,Very frequent (99-80%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017610,Orphanet,371428,ORPHA:371428,39,HP:0100651,Type I diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:10861675, PMID:26601801, PMID:27687687]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0001888,Lymphopenia,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0002486,Myotonia,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0008209,Premature ovarian insufficiency,Occasional (29-5%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017611,Orphanet,391307,ORPHA:391307,29,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:23956177, PMID:31290144, PMID:31737043]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000274,Small face,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000275,Narrow face,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000311,Round face,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000677,Oligodontia,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000685,Hypoplasia of teeth,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000819,Diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0001238,Slender finger,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0001348,Brisk reflexes,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0001620,High pitched voice,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0001946,Ketosis,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0002213,Fine hair,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0002365,Hypoplasia of the brainstem,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0003508,Proportionate short stature,Very frequent (99-80%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0007258,Severe demyelination of the white matter,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0008070,Sparse hair,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0008850,Severe postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0010344,Deviation of the 5th toe,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0011308,Slender toe,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0011451,Primary microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0025383,Dorsocervical fat pad,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017620,Orphanet,391408,ORPHA:391408,67,HP:0200021,Down-sloping shoulders,Occasional (29-5%),TAS,,,,"[PMID:26159176, PMID:26297882, PMID:26307080, PMID:26526202]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0000338,Hypomimic face,Very frequent (99-80%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0001621,Weak voice,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0002063,Rigidity,Very frequent (99-80%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0002067,Bradykinesia,Very frequent (99-80%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0002172,Postural instability,Very frequent (99-80%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0002304,Akinesia,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0002322,Resting tremor,Very frequent (99-80%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0002362,Shuffling gait,Occasional (29-5%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0002425,Anarthria,Occasional (29-5%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0002540,Inability to walk,Very frequent (99-80%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0007164,Slowed slurred speech,Very frequent (99-80%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0007311,Short stepped shuffling gait,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0008969,Leg muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0012444,Brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0012638,Abnormal nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017621,Orphanet,391411,ORPHA:391411,27,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:22563501, PMID:23211418, PMID:23804577]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0000546,Retinal degeneration,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0000618,Blindness,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0000711,Restlessness,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0000749,Paroxysmal bursts of laughter,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001264,Spastic diplegia,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001987,Hyperammonemia,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0002134,Abnormality of the basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0002151,Increased serum lactate,Very frequent (99-80%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0002180,Neurodegeneration,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0002370,Poor coordination,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0002487,Hyperkinetic movements,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0002490,Increased CSF lactate,Very frequent (99-80%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0002506,Diffuse cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0002579,Gastrointestinal dysmotility,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0003287,Abnormality of mitochondrial metabolism,Very frequent (99-80%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0006892,Frontotemporal cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0006957,Loss of ability to walk,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0007030,Nonprogressive encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0010936,Abnormality of the lower urinary tract,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0011343,Moderate global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0012707,Elevated brain lactate level by MRS,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0025356,Psychomotor retardation,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0030391,Spoken word recognition deficit,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017622,Orphanet,391428,ORPHA:391428,52,HP:0500170,Abnormal concentration of acylcarnitine in the urine,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:16148061, PMID:26950678]",y,y +GARD:0017623,Orphanet,391457,ORPHA:391457,9,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:22127393],y,y +GARD:0017623,Orphanet,391457,ORPHA:391457,9,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,[PMID:22127393],y,y +GARD:0017623,Orphanet,391457,ORPHA:391457,9,HP:0001639,Hypertrophic cardiomyopathy,Very frequent (99-80%),TAS,,,,[PMID:22127393],y,y +GARD:0017623,Orphanet,391457,ORPHA:391457,9,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,[PMID:22127393],y,y +GARD:0017623,Orphanet,391457,ORPHA:391457,9,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,[PMID:22127393],y,y +GARD:0017623,Orphanet,391457,ORPHA:391457,9,HP:0003256,Abnormality of the coagulation cascade,Occasional (29-5%),TAS,,,,[PMID:22127393],y,y +GARD:0017623,Orphanet,391457,ORPHA:391457,9,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,[PMID:22127393],y,y +GARD:0017623,Orphanet,391457,ORPHA:391457,9,HP:0025356,Psychomotor retardation,Very frequent (99-80%),TAS,,,,[PMID:22127393],y,y +GARD:0017623,Orphanet,391457,ORPHA:391457,9,HP:0500170,Abnormal concentration of acylcarnitine in the urine,Very frequent (99-80%),TAS,,,,[PMID:22127393],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0000123,Nephritis,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0002023,Anal atresia,Very rare (<4-1%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0002032,Esophageal atresia,Frequent (79-30%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0002247,Duodenal atresia,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0002589,Gastrointestinal atresia,Very frequent (99-80%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0004220,Short middle phalanx of the 5th finger,Frequent (79-30%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0004322,Short stature,Very rare (<4-1%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0004691,2-3 toe syndactyly,Frequent (79-30%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0004692,4-5 toe syndactyly,Frequent (79-30%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0005235,Jejunal atresia,Very rare (<4-1%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0005819,Short middle phalanx of finger,Very frequent (99-80%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0009577,Short middle phalanx of the 2nd finger,Frequent (79-30%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0009778,Short thumb,Frequent (79-30%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0010446,Tricuspid stenosis,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0011611,Interrupted aortic arch,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0011625,Multiple muscular ventricular septal defects,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0011662,Tricuspid atresia,Occasional (29-5%),TAS,,,,[PMID:20301770],y,y +GARD:0017624,Orphanet,391641,ORPHA:391641,35,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,[PMID:20301770],y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0005235,Jejunal atresia,Frequent (79-30%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0005819,Short middle phalanx of finger,Very frequent (99-80%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0009778,Short thumb,Frequent (79-30%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017625,Orphanet,391646,ORPHA:391646,15,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:21892160, PMID:25391829]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0000045,Abnormality of the scrotum,Frequent (79-30%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0001159,Syndactyly,Frequent (79-30%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0001626,Abnormality of the cardiovascular system,Frequent (79-30%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0001804,Hypoplastic fingernail,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0004482,Relative macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0006266,Small placenta,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0009237,Short 5th finger,Frequent (79-30%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0010442,Polydactyly,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0030260,Microphallus,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0100257,Ectrodactyly,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0100555,Asymmetric growth,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017628,Orphanet,397590,ORPHA:397590,36,HP:0100607,Dysmenorrhea,Occasional (29-5%),TAS,,,,"[PMID:25262539, PMID:31544945, PMID:32546215]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0000308,Microretrognathia,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0001963,Abnormal speech discrimination,Frequent (79-30%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0010845,EEG with generalized slow activity,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0030799,Scaphocephaly,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0045025,Narrow palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0100540,Palpebral edema,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017630,Orphanet,397612,ORPHA:397612,26,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:24239382, PMID:25847626]",y,y +GARD:0017634,Orphanet,397685,ORPHA:397685,9,HP:0000132,Menorrhagia,Occasional (29-5%),TAS,,,,"[PMID:15218000, PMID:24195502, PMID:24597877, PMID:24597878, PMID:24597879, PMID:24597880]",y,y +GARD:0017634,Orphanet,397685,ORPHA:397685,9,HP:0000134,Female hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:15218000, PMID:24195502, PMID:24597877, PMID:24597878, PMID:24597879, PMID:24597880]",y,y +GARD:0017634,Orphanet,397685,ORPHA:397685,9,HP:0000141,Amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:15218000, PMID:24195502, PMID:24597877, PMID:24597878, PMID:24597879, PMID:24597880]",y,y +GARD:0017634,Orphanet,397685,ORPHA:397685,9,HP:0000789,Infertility,Frequent (79-30%),TAS,,,,"[PMID:15218000, PMID:24195502, PMID:24597877, PMID:24597878, PMID:24597879, PMID:24597880]",y,y +GARD:0017634,Orphanet,397685,ORPHA:397685,9,HP:0000876,Oligomenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:15218000, PMID:24195502, PMID:24597877, PMID:24597878, PMID:24597879, PMID:24597880]",y,y +GARD:0017634,Orphanet,397685,ORPHA:397685,9,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:15218000, PMID:24195502, PMID:24597877, PMID:24597878, PMID:24597879, PMID:24597880]",y,y +GARD:0017634,Orphanet,397685,ORPHA:397685,9,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:15218000, PMID:24195502, PMID:24597877, PMID:24597878, PMID:24597879, PMID:24597880]",y,y +GARD:0017634,Orphanet,397685,ORPHA:397685,9,HP:0012886,Hemorrhagic ovarian cyst,Frequent (79-30%),TAS,,,,"[PMID:15218000, PMID:24195502, PMID:24597877, PMID:24597878, PMID:24597879, PMID:24597880]",y,y +GARD:0017634,Orphanet,397685,ORPHA:397685,9,HP:0100829,Galactorrhea,Very frequent (99-80%),TAS,,,,"[PMID:15218000, PMID:24195502, PMID:24597877, PMID:24597878, PMID:24597879, PMID:24597880]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000289,Broad philtrum,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000307,Pointed chin,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000350,Small forehead,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0002002,Deep philtrum,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0002186,Apraxia,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0002194,Delayed gross motor development,Very frequent (99-80%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0002219,Facial hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0002684,Thickened calvaria,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0004482,Relative macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0006951,Retrocerebellar cyst,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Very frequent (99-80%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0008443,Spinal deformities,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0010471,Oligosacchariduria,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0010862,Delayed fine motor development,Very frequent (99-80%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0011842,Abnormal skeletal morphology,Frequent (79-30%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0012110,Hypoplasia of the pons,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0012745,Short palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0012810,Wide nasal base,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017636,Orphanet,397709,ORPHA:397709,54,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,"[PMID:24501761, PMID:25439728, PMID:25848753, PMID:27913285]",y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000396,Overfolded helix,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000556,Retinal dystrophy,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000773,Short ribs,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000803,Renal cortical cysts,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0000890,Long clavicles,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0001331,Absent septum pellucidum,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0001591,Bell-shaped thorax,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002085,Occipital encephalocele,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002100,Recurrent aspiration pneumonia,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002134,Abnormality of the basal ganglia,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002195,Dysgenesis of the cerebellar vermis,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002280,Enlarged cisterna magna,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002419,Molar tooth sign on MRI,Frequent (79-30%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0003170,Abnormal acetabulum morphology,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0003411,Proximal femoral metaphyseal irregularity,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0004629,Small cervical vertebral bodies,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0004719,Hyperechogenic kidneys,Frequent (79-30%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0004991,Rhizomelic arm shortening,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0005257,Thoracic hypoplasia,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0005989,Redundant neck skin,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0006528,Chronic lung disease,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0006668,Twelfth rib hypoplasia,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0006711,Aplasia/Hypoplasia involving bones of the thorax,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0007082,Dilated third ventricle,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0008445,Cervical spinal canal stenosis,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0008797,Early ossification of capital femoral epiphyses,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0009921,Duane anomaly,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0010013,Abnormal 5th metacarpal morphology,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0010579,Cone-shaped epiphysis,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0011927,Short digit,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0011933,Elongated superior cerebellar peduncle,Frequent (79-30%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0012106,Rhizomelic leg shortening,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0012795,Abnormality of the optic disc,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0030048,Colpocephaly,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0031528,Subretinal deposits,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0100259,Postaxial polydactyly,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017637,Orphanet,397715,ORPHA:397715,73,HP:0100954,Open operculum,Occasional (29-5%),TAS,,,,[PMID:20503315],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0001369,Arthritis,Very rare (<4-1%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0001605,Vocal cord paralysis,Excluded (0%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0002015,Dysphagia,Excluded (0%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0003701,Proximal muscle weakness,Occasional (29-5%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0008619,Bilateral sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0009063,Progressive distal muscle weakness,Frequent (79-30%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0010219,Structural foot deformity,Frequent (79-30%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0012548,Fatty replacement of skeletal muscle,Frequent (79-30%),TAS,,,,[PMID:21480433],y,y +GARD:0017639,Orphanet,397744,ORPHA:397744,21,HP:0030774,Mitochondrial swelling,Frequent (79-30%),TAS,,,,[PMID:21480433],y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0000473,Torticollis,Very rare (<4-1%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0000666,Horizontal nystagmus,Frequent (79-30%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0001272,Cerebellar atrophy,Very rare (<4-1%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0002059,Cerebral atrophy,Very rare (<4-1%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0002169,Clonus,Frequent (79-30%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0002317,Unsteady gait,Occasional (29-5%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0002380,Fasciculations,Very frequent (99-80%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0002395,Lower limb hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0002497,Spastic ataxia,Very frequent (99-80%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0002500,Abnormal cerebral white matter morphology,Very frequent (99-80%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0007663,Reduced visual acuity,Very rare (<4-1%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0009830,Peripheral neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0011096,Peripheral demyelination,Frequent (79-30%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0025357,Erratic myoclonus,Frequent (79-30%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017644,Orphanet,397946,ORPHA:397946,33,HP:0030187,Titubation,Frequent (79-30%),TAS,,,,"[PMID:17273843, PMID:24319291, PMID:24482476]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0005484,Secondary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017645,Orphanet,397951,ORPHA:397951,18,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:21937992, PMID:22633631, PMID:24084144]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0000484,Hyperopic astigmatism,Frequent (79-30%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0001047,Atopic dermatitis,Frequent (79-30%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0001822,Hallux valgus,Frequent (79-30%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0002187,"Intellectual disability, profound",Occasional (29-5%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0002690,Large sella turcica,Occasional (29-5%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0006333,Crowded maxillary incisors,Frequent (79-30%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0006897,Abducens palsy,Frequent (79-30%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0010164,Cone-shaped epiphyses of the toes,Frequent (79-30%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0100046,Cone-shaped epiphyses of the 2nd toe,Occasional (29-5%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0100057,Cone-shaped epiphyses of the 3rd toe,Occasional (29-5%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0100068,Cone-shaped epiphyses of the 4th toe,Occasional (29-5%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017648,Orphanet,397973,ORPHA:397973,27,HP:0100271,Hyponasal speech,Occasional (29-5%),TAS,,,,"[PMID:11746007, PMID:19288561]",y,y +GARD:0017649,Orphanet,398173,ORPHA:398173,13,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:19291768],y,y +GARD:0017649,Orphanet,398173,ORPHA:398173,13,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,[PMID:19291768],y,y +GARD:0017649,Orphanet,398173,ORPHA:398173,13,HP:0000385,Small earlobe,Frequent (79-30%),TAS,,,,[PMID:19291768],y,y +GARD:0017649,Orphanet,398173,ORPHA:398173,13,HP:0000387,Absent earlobe,Occasional (29-5%),TAS,,,,[PMID:19291768],y,y +GARD:0017649,Orphanet,398173,ORPHA:398173,13,HP:0000394,Lop ear,Occasional (29-5%),TAS,,,,[PMID:19291768],y,y +GARD:0017649,Orphanet,398173,ORPHA:398173,13,HP:0000666,Horizontal nystagmus,Frequent (79-30%),TAS,,,,[PMID:19291768],y,y +GARD:0017649,Orphanet,398173,ORPHA:398173,13,HP:0001128,Trichiasis,Very frequent (99-80%),TAS,,,,[PMID:19291768],y,y +GARD:0017649,Orphanet,398173,ORPHA:398173,13,HP:0002055,Curved linear dimple below the lower lip,Very frequent (99-80%),TAS,,,,[PMID:19291768],y,y +GARD:0017649,Orphanet,398173,ORPHA:398173,13,HP:0004554,Generalized hypertrichosis,Frequent (79-30%),TAS,,,,[PMID:19291768],y,y +GARD:0017649,Orphanet,398173,ORPHA:398173,13,HP:0007651,Ectropion of lower eyelids,Frequent (79-30%),TAS,,,,[PMID:19291768],y,y +GARD:0017649,Orphanet,398173,ORPHA:398173,13,HP:0009743,Distichiasis,Very frequent (99-80%),TAS,,,,[PMID:19291768],y,y +GARD:0017649,Orphanet,398173,ORPHA:398173,13,HP:0011336,Bitemporal forceps marks,Very frequent (99-80%),TAS,,,,[PMID:19291768],y,y +GARD:0017649,Orphanet,398173,ORPHA:398173,13,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,[PMID:19291768],y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0000204,Cleft upper lip,Frequent (79-30%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0000331,Short chin,Frequent (79-30%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0001028,Hemangioma,Frequent (79-30%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0002170,Intracranial hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0003764,Nevus,Frequent (79-30%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0004426,Abnormality of the cheek,Very frequent (99-80%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0011124,Abnormal epidermal morphology,Frequent (79-30%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0025167,Fragmented elastic fibers in the dermis,Frequent (79-30%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0100494,Abnormal mast cell morphology,Frequent (79-30%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:0100699,Scarring,Frequent (79-30%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017650,Orphanet,398189,ORPHA:398189,17,HP:3000019,Abnormality of buccal mucosa,Very frequent (99-80%),TAS,,,,"[PMID:16530710, PMID:23161670]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0000467,Neck muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0001618,Dysphonia,Very frequent (99-80%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0002747,Respiratory insufficiency due to muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0003325,Limb-girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0003327,Axial muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0003552,Muscle stiffness,Occasional (29-5%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0003736,Autophagic vacuoles,Frequent (79-30%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0009063,Progressive distal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0009073,Progressive proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0030225,Accumulation of muscle fiber desmin,Frequent (79-30%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0040081,Abnormal circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0100020,Posterior capsular cataract,Frequent (79-30%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017651,Orphanet,399058,ORPHA:399058,21,HP:0100299,Muscle fiber inclusion bodies,Frequent (79-30%),TAS,,,,"[PMID:21920752, PMID:570292, PMID:8792816]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0001171,Split hand,Occasional (29-5%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0001638,Cardiomyopathy,Excluded (0%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0003376,Steppage gait,Frequent (79-30%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0003805,Rimmed vacuoles,Frequent (79-30%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0008954,Intrinsic hand muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0009005,Weakness of the intrinsic hand muscles,Frequent (79-30%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0009031,Amyotrophy of ankle musculature,Frequent (79-30%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0009063,Progressive distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0009073,Progressive proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0009473,Joint contracture of the hand,Frequent (79-30%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017652,Orphanet,399086,ORPHA:399086,16,HP:0012548,Fatty replacement of skeletal muscle,Frequent (79-30%),TAS,,,,"[PMID:12847162, PMID:15036327]",y,y +GARD:0017653,Orphanet,399096,ORPHA:399096,13,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:9673985],y,y +GARD:0017653,Orphanet,399096,ORPHA:399096,13,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,[PMID:9673985],y,y +GARD:0017653,Orphanet,399096,ORPHA:399096,13,HP:0003201,Rhabdomyolysis,Very rare (<4-1%),TAS,,,,[PMID:9673985],y,y +GARD:0017653,Orphanet,399096,ORPHA:399096,13,HP:0003323,Progressive muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:9673985],y,y +GARD:0017653,Orphanet,399096,ORPHA:399096,13,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,[PMID:9673985],y,y +GARD:0017653,Orphanet,399096,ORPHA:399096,13,HP:0003693,Distal amyotrophy,Occasional (29-5%),TAS,,,,[PMID:9673985],y,y +GARD:0017653,Orphanet,399096,ORPHA:399096,13,HP:0003707,Calf muscle pseudohypertrophy,Occasional (29-5%),TAS,,,,[PMID:9673985],y,y +GARD:0017653,Orphanet,399096,ORPHA:399096,13,HP:0008997,Proximal muscle weakness in upper limbs,Occasional (29-5%),TAS,,,,[PMID:9673985],y,y +GARD:0017653,Orphanet,399096,ORPHA:399096,13,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,[PMID:9673985],y,y +GARD:0017653,Orphanet,399096,ORPHA:399096,13,HP:0009049,Peroneal muscle atrophy,Excluded (0%),TAS,,,,[PMID:9673985],y,y +GARD:0017653,Orphanet,399096,ORPHA:399096,13,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:9673985],y,y +GARD:0017653,Orphanet,399096,ORPHA:399096,13,HP:0009073,Progressive proximal muscle weakness,Occasional (29-5%),TAS,,,,[PMID:9673985],y,y +GARD:0017653,Orphanet,399096,ORPHA:399096,13,HP:0030234,Highly elevated creatine kinase,Frequent (79-30%),TAS,,,,[PMID:9673985],y,y +GARD:0017654,Orphanet,399808,ORPHA:399808,8,HP:0000118,Phenotypic abnormality,Very frequent (99-80%),TAS,,,,"[PMID:11726589, PMID:15533374, PMID:16062000, PMID:17847006, PMID:21397063, PMID:21397064, PMID:21733974, PMID:22653751, PMID:23315541, PMID:3338587, PMID:4383, PMID:6357995, PMID:6380341, PMID:9207595]",y,y +GARD:0017654,Orphanet,399808,ORPHA:399808,8,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:11726589, PMID:15533374, PMID:16062000, PMID:17847006, PMID:21397063, PMID:21397064, PMID:21733974, PMID:22653751, PMID:23315541, PMID:3338587, PMID:4383, PMID:6357995, PMID:6380341, PMID:9207595]",y,y +GARD:0017654,Orphanet,399808,ORPHA:399808,8,HP:0008669,Abnormal spermatogenesis,Very frequent (99-80%),TAS,,,,"[PMID:11726589, PMID:15533374, PMID:16062000, PMID:17847006, PMID:21397063, PMID:21397064, PMID:21733974, PMID:22653751, PMID:23315541, PMID:3338587, PMID:4383, PMID:6357995, PMID:6380341, PMID:9207595]",y,y +GARD:0017654,Orphanet,399808,ORPHA:399808,8,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:11726589, PMID:15533374, PMID:16062000, PMID:17847006, PMID:21397063, PMID:21397064, PMID:21733974, PMID:22653751, PMID:23315541, PMID:3338587, PMID:4383, PMID:6357995, PMID:6380341, PMID:9207595]",y,y +GARD:0017654,Orphanet,399808,ORPHA:399808,8,HP:0011961,Non-obstructive azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:11726589, PMID:15533374, PMID:16062000, PMID:17847006, PMID:21397063, PMID:21397064, PMID:21733974, PMID:22653751, PMID:23315541, PMID:3338587, PMID:4383, PMID:6357995, PMID:6380341, PMID:9207595]",y,y +GARD:0017654,Orphanet,399808,ORPHA:399808,8,HP:0012205,Globozoospermia,Very frequent (99-80%),TAS,,,,"[PMID:11726589, PMID:15533374, PMID:16062000, PMID:17847006, PMID:21397063, PMID:21397064, PMID:21733974, PMID:22653751, PMID:23315541, PMID:3338587, PMID:4383, PMID:6357995, PMID:6380341, PMID:9207595]",y,y +GARD:0017654,Orphanet,399808,ORPHA:399808,8,HP:0012864,Abnormal sperm morphology,Very frequent (99-80%),TAS,,,,"[PMID:11726589, PMID:15533374, PMID:16062000, PMID:17847006, PMID:21397063, PMID:21397064, PMID:21733974, PMID:22653751, PMID:23315541, PMID:3338587, PMID:4383, PMID:6357995, PMID:6380341, PMID:9207595]",y,y +GARD:0017654,Orphanet,399808,ORPHA:399808,8,HP:0012868,Abnormal sperm tail morphology,Very frequent (99-80%),TAS,,,,"[PMID:11726589, PMID:15533374, PMID:16062000, PMID:17847006, PMID:21397063, PMID:21397064, PMID:21733974, PMID:22653751, PMID:23315541, PMID:3338587, PMID:4383, PMID:6357995, PMID:6380341, PMID:9207595]",y,y +GARD:0017656,Orphanet,401780,ORPHA:401780,8,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017656,Orphanet,401780,ORPHA:401780,8,HP:0001271,Polyneuropathy,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017656,Orphanet,401780,ORPHA:401780,8,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017656,Orphanet,401780,ORPHA:401780,8,HP:0002815,Abnormality of the knee,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017656,Orphanet,401780,ORPHA:401780,8,HP:0005109,Abnormality of the Achilles tendon,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017656,Orphanet,401780,ORPHA:401780,8,HP:0007083,Hyperactive patellar reflex,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017656,Orphanet,401780,ORPHA:401780,8,HP:0007178,Motor polyneuropathy,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017656,Orphanet,401780,ORPHA:401780,8,HP:0012407,Scissor gait,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017657,Orphanet,401785,ORPHA:401785,13,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017657,Orphanet,401785,ORPHA:401785,13,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,[PMID:24482476],y,y +GARD:0017657,Orphanet,401785,ORPHA:401785,13,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,[PMID:24482476],y,y +GARD:0017657,Orphanet,401785,ORPHA:401785,13,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017657,Orphanet,401785,ORPHA:401785,13,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,[PMID:24482476],y,y +GARD:0017657,Orphanet,401785,ORPHA:401785,13,HP:0002064,Spastic gait,Occasional (29-5%),TAS,,,,[PMID:24482476],y,y +GARD:0017657,Orphanet,401785,ORPHA:401785,13,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,[PMID:24482476],y,y +GARD:0017657,Orphanet,401785,ORPHA:401785,13,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017657,Orphanet,401785,ORPHA:401785,13,HP:0002943,Thoracic scoliosis,Occasional (29-5%),TAS,,,,[PMID:24482476],y,y +GARD:0017657,Orphanet,401785,ORPHA:401785,13,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,[PMID:24482476],y,y +GARD:0017657,Orphanet,401785,ORPHA:401785,13,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,[PMID:24482476],y,y +GARD:0017657,Orphanet,401785,ORPHA:401785,13,HP:0012514,Lower limb pain,Occasional (29-5%),TAS,,,,[PMID:24482476],y,y +GARD:0017657,Orphanet,401785,ORPHA:401785,13,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017658,Orphanet,401805,ORPHA:401805,9,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017658,Orphanet,401805,ORPHA:401805,9,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017658,Orphanet,401805,ORPHA:401805,9,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017658,Orphanet,401805,ORPHA:401805,9,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017658,Orphanet,401805,ORPHA:401805,9,HP:0002518,Abnormal periventricular white matter morphology,Occasional (29-5%),TAS,,,,[PMID:24482476],y,y +GARD:0017658,Orphanet,401805,ORPHA:401805,9,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017658,Orphanet,401805,ORPHA:401805,9,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017658,Orphanet,401805,ORPHA:401805,9,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017658,Orphanet,401805,ORPHA:401805,9,HP:0012407,Scissor gait,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017659,Orphanet,401810,ORPHA:401810,9,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017659,Orphanet,401810,ORPHA:401810,9,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017659,Orphanet,401810,ORPHA:401810,9,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017659,Orphanet,401810,ORPHA:401810,9,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017659,Orphanet,401810,ORPHA:401810,9,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017659,Orphanet,401810,ORPHA:401810,9,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,[PMID:24482476],y,y +GARD:0017659,Orphanet,401810,ORPHA:401810,9,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017659,Orphanet,401810,ORPHA:401810,9,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,[PMID:24482476],y,y +GARD:0017659,Orphanet,401810,ORPHA:401810,9,HP:0006889,"Intellectual disability, borderline",Frequent (79-30%),TAS,,,,[PMID:24482476],y,y +GARD:0017660,Orphanet,401849,ORPHA:401849,9,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,[PMID:24388663],y,y +GARD:0017660,Orphanet,401849,ORPHA:401849,9,HP:0002063,Rigidity,Very frequent (99-80%),TAS,,,,[PMID:24388663],y,y +GARD:0017660,Orphanet,401849,ORPHA:401849,9,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,[PMID:24388663],y,y +GARD:0017660,Orphanet,401849,ORPHA:401849,9,HP:0002174,Postural tremor,Occasional (29-5%),TAS,,,,[PMID:24388663],y,y +GARD:0017660,Orphanet,401849,ORPHA:401849,9,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,[PMID:24388663],y,y +GARD:0017660,Orphanet,401849,ORPHA:401849,9,HP:0002839,Urinary bladder sphincter dysfunction,Frequent (79-30%),TAS,,,,[PMID:24388663],y,y +GARD:0017660,Orphanet,401849,ORPHA:401849,9,HP:0006938,Impaired vibration sensation at ankles,Occasional (29-5%),TAS,,,,[PMID:24388663],y,y +GARD:0017660,Orphanet,401849,ORPHA:401849,9,HP:0011446,Abnormality of higher mental function,Occasional (29-5%),TAS,,,,[PMID:24388663],y,y +GARD:0017660,Orphanet,401849,ORPHA:401849,9,HP:0012531,Pain,Occasional (29-5%),TAS,,,,[PMID:24388663],y,y +GARD:0017663,Orphanet,401942,ORPHA:401942,10,HP:0000161,Median cleft lip,Very frequent (99-80%),TAS,,,,[PMID:23860042],y,y +GARD:0017663,Orphanet,401942,ORPHA:401942,10,HP:0000204,Cleft upper lip,Very frequent (99-80%),TAS,,,,[PMID:23860042],y,y +GARD:0017663,Orphanet,401942,ORPHA:401942,10,HP:0000277,Abnormal mandible morphology,Very frequent (99-80%),TAS,,,,[PMID:23860042],y,y +GARD:0017663,Orphanet,401942,ORPHA:401942,10,HP:0000309,Abnormality of the midface,Very frequent (99-80%),TAS,,,,[PMID:23860042],y,y +GARD:0017663,Orphanet,401942,ORPHA:401942,10,HP:0000326,Abnormality of the maxilla,Very frequent (99-80%),TAS,,,,[PMID:23860042],y,y +GARD:0017663,Orphanet,401942,ORPHA:401942,10,HP:0000699,Diastema,Very frequent (99-80%),TAS,,,,[PMID:23860042],y,y +GARD:0017663,Orphanet,401942,ORPHA:401942,10,HP:0010281,Cleft lower lip,Very frequent (99-80%),TAS,,,,[PMID:23860042],y,y +GARD:0017663,Orphanet,401942,ORPHA:401942,10,HP:0012292,Fusion of gums,Very frequent (99-80%),TAS,,,,[PMID:23860042],y,y +GARD:0017663,Orphanet,401942,ORPHA:401942,10,HP:0040079,Irregular dentition,Very frequent (99-80%),TAS,,,,[PMID:23860042],y,y +GARD:0017663,Orphanet,401942,ORPHA:401942,10,HP:3000010,Abnormality of orbicularis oris muscle,Very frequent (99-80%),TAS,,,,[PMID:23860042],y,y +GARD:0017664,Orphanet,401945,ORPHA:401945,8,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,[PMID:24581742],y,y +GARD:0017664,Orphanet,401945,ORPHA:401945,8,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,[PMID:24581742],y,y +GARD:0017664,Orphanet,401945,ORPHA:401945,8,HP:0001297,Stroke,Obligate (100%),TAS,,,,[PMID:24581742],y,y +GARD:0017664,Orphanet,401945,ORPHA:401945,8,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,[PMID:24581742],y,y +GARD:0017664,Orphanet,401945,ORPHA:401945,8,HP:0011834,Moyamoya phenomenon,Frequent (79-30%),TAS,,,,[PMID:24581742],y,y +GARD:0017664,Orphanet,401945,ORPHA:401945,8,HP:0030402,Abnormal platelet aggregation,Occasional (29-5%),TAS,,,,[PMID:24581742],y,y +GARD:0017664,Orphanet,401945,ORPHA:401945,8,HP:0030880,Raynaud phenomenon,Occasional (29-5%),TAS,,,,[PMID:24581742],y,y +GARD:0017664,Orphanet,401945,ORPHA:401945,8,HP:0100659,Abnormal cerebral vascular morphology,Frequent (79-30%),TAS,,,,[PMID:24581742],y,y +GARD:0017665,Orphanet,401953,ORPHA:401953,10,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:23982692],y,y +GARD:0017665,Orphanet,401953,ORPHA:401953,10,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:23982692],y,y +GARD:0017665,Orphanet,401953,ORPHA:401953,10,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:23982692],y,y +GARD:0017665,Orphanet,401953,ORPHA:401953,10,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,[PMID:23982692],y,y +GARD:0017665,Orphanet,401953,ORPHA:401953,10,HP:0001350,Slurred speech,Very frequent (99-80%),TAS,,,,[PMID:23982692],y,y +GARD:0017665,Orphanet,401953,ORPHA:401953,10,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,[PMID:23982692],y,y +GARD:0017665,Orphanet,401953,ORPHA:401953,10,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,[PMID:23982692],y,y +GARD:0017665,Orphanet,401953,ORPHA:401953,10,HP:0002172,Postural instability,Very frequent (99-80%),TAS,,,,[PMID:23982692],y,y +GARD:0017665,Orphanet,401953,ORPHA:401953,10,HP:0002411,Myokymia,Occasional (29-5%),TAS,,,,[PMID:23982692],y,y +GARD:0017665,Orphanet,401953,ORPHA:401953,10,HP:0012547,Abnormal involuntary eye movements,Frequent (79-30%),TAS,,,,[PMID:23982692],y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000260,Wide anterior fontanel,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000422,Abnormal nasal bridge morphology,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000472,Long neck,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000474,Thickened nuchal skin fold,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0000960,Sacral dimple,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0001161,Hand polydactyly,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0001305,Dandy-Walker malformation,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0001650,Aortic valve stenosis,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0001845,Overlapping toe,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0003462,Elevated 8-dehydrocholesterol,Very frequent (99-80%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0003465,Elevated 8(9)-cholestenol,Very frequent (99-80%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0004691,2-3 toe syndactyly,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0005590,Spotty hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0006958,Abnormal auditory evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0008064,Ichthyosis,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0009941,Asymmetry of the mouth,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0010055,Broad hallux,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0010557,Overlapping fingers,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0012433,Abnormal social behavior,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017666,Orphanet,401973,ORPHA:401973,45,HP:0100807,Long fingers,Frequent (79-30%),TAS,,,,"[PMID:12503101, PMID:20949533, PMID:23307567, PMID:24459067]",y,y +GARD:0017670,Orphanet,402075,ORPHA:402075,12,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:16025100, PMID:22275001, PMID:9631276]",y,y +GARD:0017670,Orphanet,402075,ORPHA:402075,12,HP:0001647,Bicuspid aortic valve,Obligate (100%),TAS,,,,"[PMID:16025100, PMID:22275001, PMID:9631276]",y,y +GARD:0017670,Orphanet,402075,ORPHA:402075,12,HP:0001650,Aortic valve stenosis,Very frequent (99-80%),TAS,,,,"[PMID:16025100, PMID:22275001, PMID:9631276]",y,y +GARD:0017670,Orphanet,402075,ORPHA:402075,12,HP:0001659,Aortic regurgitation,Very frequent (99-80%),TAS,,,,"[PMID:16025100, PMID:22275001, PMID:9631276]",y,y +GARD:0017670,Orphanet,402075,ORPHA:402075,12,HP:0001680,Coarctation of aorta,Very frequent (99-80%),TAS,,,,"[PMID:16025100, PMID:22275001, PMID:9631276]",y,y +GARD:0017670,Orphanet,402075,ORPHA:402075,12,HP:0004380,Aortic valve calcification,Very frequent (99-80%),TAS,,,,"[PMID:16025100, PMID:22275001, PMID:9631276]",y,y +GARD:0017670,Orphanet,402075,ORPHA:402075,12,HP:0004383,Hypoplastic left heart,Very rare (<4-1%),TAS,,,,"[PMID:16025100, PMID:22275001, PMID:9631276]",y,y +GARD:0017670,Orphanet,402075,ORPHA:402075,12,HP:0004933,Ascending aortic dissection,Very rare (<4-1%),TAS,,,,"[PMID:16025100, PMID:22275001, PMID:9631276]",y,y +GARD:0017670,Orphanet,402075,ORPHA:402075,12,HP:0004962,Thoracic aorta calcification,Very frequent (99-80%),TAS,,,,"[PMID:16025100, PMID:22275001, PMID:9631276]",y,y +GARD:0017670,Orphanet,402075,ORPHA:402075,12,HP:0005113,Aortic arch aneurysm,Frequent (79-30%),TAS,,,,"[PMID:16025100, PMID:22275001, PMID:9631276]",y,y +GARD:0017670,Orphanet,402075,ORPHA:402075,12,HP:0011103,Abnormal left ventricular outflow tract morphology,Very rare (<4-1%),TAS,,,,"[PMID:16025100, PMID:22275001, PMID:9631276]",y,y +GARD:0017670,Orphanet,402075,ORPHA:402075,12,HP:0030148,Heart murmur,Very frequent (99-80%),TAS,,,,"[PMID:16025100, PMID:22275001, PMID:9631276]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000190,Abnormal oral frenulum morphology,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0001830,Postaxial foot polydactyly,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0002002,Deep philtrum,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0002194,Delayed gross motor development,Very frequent (99-80%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0005105,Abnormal nasal morphology,Very frequent (99-80%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0009836,Broad distal phalanx of finger,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0010663,Abnormality of thalamus morphology,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0012377,Hemianopia,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0012450,Chronic constipation,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0012718,Morphological abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0100259,Postaxial polydactyly,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017673,Orphanet,404440,ORPHA:404440,52,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,"[PMID:24680889, PMID:25138099]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0000303,Mandibular prognathia,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0000311,Round face,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0000316,Hypertelorism,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0000718,Aggressive behavior,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0001382,Joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0001537,Umbilical hernia,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0001566,Widely-spaced maxillary central incisors,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0001653,Mitral regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0002000,Short columella,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0002002,Deep philtrum,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0002616,Aortic root aneurysm,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0003508,Proportionate short stature,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0005180,Tricuspid regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0007302,Bipolar affective disorder,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0008094,Widely spaced toes,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0011407,Proportionate tall stature,Very frequent (99-80%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0011688,Supraventricular tachycardia with an accessory connection mediated pathway,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0012324,Myeloid leukemia,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0045025,Narrow palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0100634,Neuroendocrine neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017674,Orphanet,404443,ORPHA:404443,40,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,"[PMID:24614070, PMID:27991732, PMID:28941052, PMID:29900417, PMID:31066180]",y,y +GARD:0017677,Orphanet,404493,ORPHA:404493,6,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,[PMID:24658003],y,y +GARD:0017677,Orphanet,404493,ORPHA:404493,6,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:24658003],y,y +GARD:0017677,Orphanet,404493,ORPHA:404493,6,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:24658003],y,y +GARD:0017677,Orphanet,404493,ORPHA:404493,6,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:24658003],y,y +GARD:0017677,Orphanet,404493,ORPHA:404493,6,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,[PMID:24658003],y,y +GARD:0017677,Orphanet,404493,ORPHA:404493,6,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:24658003],y,y +GARD:0017678,Orphanet,404499,ORPHA:404499,11,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:20826435],y,y +GARD:0017678,Orphanet,404499,ORPHA:404499,11,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:20826435],y,y +GARD:0017678,Orphanet,404499,ORPHA:404499,11,HP:0001152,Saccadic smooth pursuit,Frequent (79-30%),TAS,,,,[PMID:20826435],y,y +GARD:0017678,Orphanet,404499,ORPHA:404499,11,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:20826435],y,y +GARD:0017678,Orphanet,404499,ORPHA:404499,11,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:20826435],y,y +GARD:0017678,Orphanet,404499,ORPHA:404499,11,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:20826435],y,y +GARD:0017678,Orphanet,404499,ORPHA:404499,11,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,[PMID:20826435],y,y +GARD:0017678,Orphanet,404499,ORPHA:404499,11,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,[PMID:20826435],y,y +GARD:0017678,Orphanet,404499,ORPHA:404499,11,HP:0002070,Limb ataxia,Very frequent (99-80%),TAS,,,,[PMID:20826435],y,y +GARD:0017678,Orphanet,404499,ORPHA:404499,11,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,[PMID:20826435],y,y +GARD:0017678,Orphanet,404499,ORPHA:404499,11,HP:0002194,Delayed gross motor development,Very frequent (99-80%),TAS,,,,[PMID:20826435],y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0000505,Visual impairment,Very rare (<4-1%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0000637,Long palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0002194,Delayed gross motor development,Very frequent (99-80%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0002363,Abnormal brainstem morphology,Occasional (29-5%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0002538,Abnormal cerebral cortex morphology,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0009879,Simplified gyral pattern,Occasional (29-5%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0010862,Delayed fine motor development,Very frequent (99-80%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017680,Orphanet,411493,ORPHA:411493,27,HP:0025405,Visual fixation instability,Occasional (29-5%),TAS,,,,"[PMID:24766809, PMID:24766810]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0000407,Sensorineural hearing impairment,Excluded (0%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0000478,Abnormality of the eye,Excluded (0%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0000791,Uric acid nephrolithiasis,Frequent (79-30%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0001999,Abnormal facial shape,Excluded (0%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0002149,Hyperuricemia,Very frequent (99-80%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0003149,Hyperuricosuria,Very frequent (99-80%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0003240,Increased phosphoribosylpyrophosphate synthetase level,Very frequent (99-80%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0009830,Peripheral neuropathy,Excluded (0%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0012611,Increased urinary urate,Very frequent (99-80%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0012626,Stage 4 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017681,Orphanet,411536,ORPHA:411536,16,HP:0020074,Crystalluria,Frequent (79-30%),TAS,,,,"[PMID:20301734, PMID:26089585, PMID:30423175]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0000501,Glaucoma,Very rare (<4-1%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0000545,Myopia,Very rare (<4-1%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0000791,Uric acid nephrolithiasis,Very frequent (99-80%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0001263,Global developmental delay,Very rare (<4-1%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0001997,Gout,Very frequent (99-80%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0002149,Hyperuricemia,Very frequent (99-80%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0002205,Recurrent respiratory infections,Very rare (<4-1%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0003149,Hyperuricosuria,Very frequent (99-80%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0003240,Increased phosphoribosylpyrophosphate synthetase level,Very frequent (99-80%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0007178,Motor polyneuropathy,Occasional (29-5%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0012611,Increased urinary urate,Frequent (79-30%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0012759,Neurodevelopmental abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017682,Orphanet,411543,ORPHA:411543,22,HP:0020074,Crystalluria,Frequent (79-30%),TAS,,,,"[PMID:20005278, PMID:20301734, PMID:26089585]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0000026,Male hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0000709,Psychosis,Very frequent (99-80%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0000716,Depression,Very frequent (99-80%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0000739,Anxiety,Very frequent (99-80%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0000819,Diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0000863,Central diabetes insipidus,Frequent (79-30%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0001952,Glucose intolerance,Frequent (79-30%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0002579,Gastrointestinal dysmotility,Frequent (79-30%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0008193,Primary gonadal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0008527,Congenital sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0008850,Severe postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017683,Orphanet,411590,ORPHA:411590,22,HP:0010935,Abnormality of the upper urinary tract,Frequent (79-30%),TAS,,,,"[PMID:12107816, PMID:16648378, PMID:18544103, PMID:20301750, PMID:21538838, PMID:7490992]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0000338,Hypomimic face,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0000744,Low frustration tolerance,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0001300,Parkinsonism,Obligate (100%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0002067,Bradykinesia,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0002171,Gliosis,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0002304,Akinesia,Frequent (79-30%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0002322,Resting tremor,Frequent (79-30%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0002362,Shuffling gait,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0002367,Visual hallucinations,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0002548,Parkinsonism with favorable response to dopaminergic medication,Frequent (79-30%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0004409,Hyposmia,Frequent (79-30%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0004926,Orthostatic hypotension due to autonomic dysfunction,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0005340,Spastic/hyperactive bladder,Frequent (79-30%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0012450,Chronic constipation,Frequent (79-30%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0031435,Monotonic speech,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0100315,Lewy bodies,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017684,Orphanet,411602,ORPHA:411602,34,HP:0100753,Schizophrenia,Very rare (<4-1%),TAS,,,,"[PMID:15541308, PMID:17251522, PMID:18342564, PMID:19524782, PMID:19632874, PMID:20457952, PMID:21907011, PMID:22801713, PMID:24218364]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0000114,Proximal tubulopathy,Frequent (79-30%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0000117,Renal phosphate wasting,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0000481,Abnormal cornea morphology,Very frequent (99-80%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0000531,Corneal crystals,Frequent (79-30%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0001508,Failure to thrive,Very rare (<4-1%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0001942,Metabolic acidosis,Very rare (<4-1%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0001944,Dehydration,Very rare (<4-1%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0001994,Renal Fanconi syndrome,Frequent (79-30%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0002148,Hypophosphatemia,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0002750,Delayed skeletal maturation,Very rare (<4-1%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0002900,Hypokalemia,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0002907,Microscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0003076,Glycosuria,Frequent (79-30%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0003126,Low-molecular-weight proteinuria,Frequent (79-30%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0003259,Elevated circulating creatinine concentration,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0003355,Aminoaciduria,Frequent (79-30%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0003472,Hypocalcemic tetany,Very rare (<4-1%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0003537,Hypouricemia,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0010639,Elevated alkaline phosphatase of bone origin,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0011106,Hypovolemia,Very rare (<4-1%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0011314,Abnormality of long bone morphology,Very rare (<4-1%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0011968,Feeding difficulties,Very rare (<4-1%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0012598,Abnormal urine potassium concentration,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0012622,Chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0032639,Elevated leukocyte cystine,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0100512,Low levels of vitamin D,Occasional (29-5%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017685,Orphanet,411634,ORPHA:411634,39,HP:0200026,Ocular pain,Frequent (79-30%),TAS,,,,"[PMID:18178779, PMID:20301574]",y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000294,Low anterior hairline,Frequent (79-30%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000528,Anophthalmia,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000629,Periorbital fullness,Frequent (79-30%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0000817,Poor eye contact,Frequent (79-30%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0009748,Large earlobe,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0009904,Prominent ear helix,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0010818,Generalized tonic seizure,Frequent (79-30%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0010841,Multifocal epileptiform discharges,Frequent (79-30%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0012105,Occipital cortical atrophy,Frequent (79-30%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0012110,Hypoplasia of the pons,Frequent (79-30%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0040159,Abnormal spaced incisors,Occasional (29-5%),TAS,,,,[PMID:24814191],y,y +GARD:0017687,Orphanet,411986,ORPHA:411986,36,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,[PMID:24814191],y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0000501,Glaucoma,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0000640,Gaze-evoked nystagmus,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0000657,Oculomotor apraxia,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0000789,Infertility,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0000876,Oligomenorrhea,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001094,Iridocyclitis,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001105,Retinal atrophy,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001152,Saccadic smooth pursuit,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001181,Adducted thumb,Frequent (79-30%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001272,Cerebellar atrophy,Very frequent (99-80%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001596,Alopecia,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001733,Pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0002070,Limb ataxia,Very frequent (99-80%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0002078,Truncal ataxia,Very frequent (99-80%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0002174,Postural tremor,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0002346,Head tremor,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0002378,Hand tremor,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0002679,Abnormal sella turcica morphology,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0003693,Distal amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0005328,Progeroid facial appearance,Frequent (79-30%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0005978,Type II diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0006801,Hyperactive deep tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0007371,Corpus callosum atrophy,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0010831,Impaired proprioception,Frequent (79-30%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0011448,Ankle clonus,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0012104,Parietal cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0012110,Hypoplasia of the pons,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0012547,Abnormal involuntary eye movements,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0012569,Delayed menarche,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0012896,Abnormal motor evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017689,Orphanet,412057,ORPHA:412057,55,HP:0100651,Type I diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:24113144, PMID:24312598, PMID:24719489, PMID:24742043, PMID:25258038]",y,y +GARD:0017693,Orphanet,420485,ORPHA:420485,9,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,"[PMID:11009204, PMID:23200863]",y,y +GARD:0017693,Orphanet,420485,ORPHA:420485,9,HP:0000643,Blepharospasm,Frequent (79-30%),TAS,,,,"[PMID:11009204, PMID:23200863]",y,y +GARD:0017693,Orphanet,420485,ORPHA:420485,9,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:11009204, PMID:23200863]",y,y +GARD:0017693,Orphanet,420485,ORPHA:420485,9,HP:0001600,Abnormality of the larynx,Occasional (29-5%),TAS,,,,"[PMID:11009204, PMID:23200863]",y,y +GARD:0017693,Orphanet,420485,ORPHA:420485,9,HP:0002378,Hand tremor,Occasional (29-5%),TAS,,,,"[PMID:11009204, PMID:23200863]",y,y +GARD:0017693,Orphanet,420485,ORPHA:420485,9,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:11009204, PMID:23200863]",y,y +GARD:0017693,Orphanet,420485,ORPHA:420485,9,HP:0007351,Upper limb postural tremor,Occasional (29-5%),TAS,,,,"[PMID:11009204, PMID:23200863]",y,y +GARD:0017693,Orphanet,420485,ORPHA:420485,9,HP:0012048,Oromandibular dystonia,Occasional (29-5%),TAS,,,,"[PMID:11009204, PMID:23200863]",y,y +GARD:0017693,Orphanet,420485,ORPHA:420485,9,HP:0012477,Vocal tremor,Frequent (79-30%),TAS,,,,"[PMID:11009204, PMID:23200863]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0001272,Cerebellar atrophy,Very rare (<4-1%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0002120,Cerebral cortical atrophy,Very rare (<4-1%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0002346,Head tremor,Frequent (79-30%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0002356,Writer's cramp,Frequent (79-30%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0002530,Axial dystonia,Frequent (79-30%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0002883,Hyperventilation,Occasional (29-5%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0004373,Focal dystonia,Frequent (79-30%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0005115,Supraventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0012179,Craniofacial dystonia,Frequent (79-30%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0012893,Neck muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0025269,Panic attack,Occasional (29-5%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017694,Orphanet,420492,ORPHA:420492,17,HP:0200085,Limb tremor,Frequent (79-30%),TAS,,,,"[PMID:21370267, PMID:22447717, PMID:25296916]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0000388,Otitis media,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0000524,Conjunctival telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0001009,Telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0001954,Recurrent fever,Frequent (79-30%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0002720,Decreased circulating IgA level,Very frequent (99-80%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0002850,Decreased circulating total IgM,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0004315,Decreased circulating IgG level,Very frequent (99-80%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0004429,Recurrent viral infections,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0006254,Elevated alpha-fetoprotein,Very frequent (99-80%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0006532,Recurrent pneumonia,Frequent (79-30%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0007057,Poor hand-eye coordination,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0007108,Demyelinating peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0008940,Generalized lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0010677,Enuresis nocturna,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0010997,Chromosomal breakage induced by ionizing radiation,Very frequent (99-80%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0011108,Recurrent sinusitis,Frequent (79-30%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0011109,Chronic sinusitis,Frequent (79-30%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0012387,Bronchitis,Frequent (79-30%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0012768,Neonatal asphyxia,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0030746,Intraventricular hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017701,Orphanet,420741,ORPHA:420741,43,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,"[PMID:17940005, PMID:21394101, PMID:29255463]",y,y +GARD:0017712,Orphanet,431329,ORPHA:431329,14,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,[PMID:2347964],y,y +GARD:0017712,Orphanet,431329,ORPHA:431329,14,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,[PMID:2347964],y,y +GARD:0017712,Orphanet,431329,ORPHA:431329,14,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,[PMID:2347964],y,y +GARD:0017712,Orphanet,431329,ORPHA:431329,14,HP:0002540,Inability to walk,Very frequent (99-80%),TAS,,,,[PMID:2347964],y,y +GARD:0017712,Orphanet,431329,ORPHA:431329,14,HP:0003134,Abnormality of peripheral nerve conduction,Obligate (100%),TAS,,,,[PMID:2347964],y,y +GARD:0017712,Orphanet,431329,ORPHA:431329,14,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:2347964],y,y +GARD:0017712,Orphanet,431329,ORPHA:431329,14,HP:0003551,Difficulty climbing stairs,Obligate (100%),TAS,,,,[PMID:2347964],y,y +GARD:0017712,Orphanet,431329,ORPHA:431329,14,HP:0003698,Difficulty standing,Obligate (100%),TAS,,,,[PMID:2347964],y,y +GARD:0017712,Orphanet,431329,ORPHA:431329,14,HP:0005109,Abnormality of the Achilles tendon,Very frequent (99-80%),TAS,,,,[PMID:2347964],y,y +GARD:0017712,Orphanet,431329,ORPHA:431329,14,HP:0007141,Sensorimotor neuropathy,Very frequent (99-80%),TAS,,,,[PMID:2347964],y,y +GARD:0017712,Orphanet,431329,ORPHA:431329,14,HP:0007178,Motor polyneuropathy,Very frequent (99-80%),TAS,,,,[PMID:2347964],y,y +GARD:0017712,Orphanet,431329,ORPHA:431329,14,HP:0008944,Distal lower limb amyotrophy,Very frequent (99-80%),TAS,,,,[PMID:2347964],y,y +GARD:0017712,Orphanet,431329,ORPHA:431329,14,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,[PMID:2347964],y,y +GARD:0017712,Orphanet,431329,ORPHA:431329,14,HP:0012447,Abnormal myelination,Very frequent (99-80%),TAS,,,,[PMID:2347964],y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0001765,Hammertoe,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0002141,Gait imbalance,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0003376,Steppage gait,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0003438,Absent Achilles reflex,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0003551,Difficulty climbing stairs,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0003691,Scapular winging,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0003701,Proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0003731,Quadriceps muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0006389,Limited knee flexion,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0006886,Impaired distal vibration sensation,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0006944,Abolished vibration sense,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0008959,Distal upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0008994,Proximal muscle weakness in lower limbs,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0008997,Proximal muscle weakness in upper limbs,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0009130,Hand muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0010830,Impaired tactile sensation,Frequent (79-30%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017714,Orphanet,435387,ORPHA:435387,44,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:25125609, PMID:25878907]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0000194,Open mouth,Very frequent (99-80%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0000290,Abnormality of the forehead,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0000292,Loss of facial adipose tissue,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0000298,Mask-like facies,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0000446,Narrow nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0000586,Shallow orbits,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0001090,Abnormally large globe,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0001285,Spastic tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0002179,Opisthotonus,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0002781,Upper airway obstruction,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0005274,Prominent nasal tip,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0005328,Progeroid facial appearance,Obligate (100%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0006532,Recurrent pneumonia,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0009059,Congenital generalized lipodystrophy,Obligate (100%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0009125,Lipodystrophy,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0009933,Narrow naris,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0010751,Dimple chin,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017716,Orphanet,435628,ORPHA:435628,42,HP:0100678,Premature skin wrinkling,Very frequent (99-80%),TAS,,,,"[PMID:12567423, PMID:19610118, PMID:25620207]",y,y +GARD:0017717,Orphanet,435804,ORPHA:435804,5,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,[PMID:24762113],y,y +GARD:0017717,Orphanet,435804,ORPHA:435804,5,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,[PMID:24762113],y,y +GARD:0017717,Orphanet,435804,ORPHA:435804,5,HP:0007281,Developmental stagnation,Frequent (79-30%),TAS,,,,[PMID:24762113],y,y +GARD:0017717,Orphanet,435804,ORPHA:435804,5,HP:0009778,Short thumb,Frequent (79-30%),TAS,,,,[PMID:24762113],y,y +GARD:0017717,Orphanet,435804,ORPHA:435804,5,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,[PMID:24762113],y,y +GARD:0017720,Orphanet,435934,ORPHA:435934,13,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:24784932]",y,y +GARD:0017720,Orphanet,435934,ORPHA:435934,13,HP:0001410,Decreased liver function,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:24784932]",y,y +GARD:0017720,Orphanet,435934,ORPHA:435934,13,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:24784932]",y,y +GARD:0017720,Orphanet,435934,ORPHA:435934,13,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:24784932]",y,y +GARD:0017720,Orphanet,435934,ORPHA:435934,13,HP:0002361,Psychomotor deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:24784932]",y,y +GARD:0017720,Orphanet,435934,ORPHA:435934,13,HP:0002506,Diffuse cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:24784932]",y,y +GARD:0017720,Orphanet,435934,ORPHA:435934,13,HP:0002510,Spastic tetraplegia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:24784932]",y,y +GARD:0017720,Orphanet,435934,ORPHA:435934,13,HP:0003256,Abnormality of the coagulation cascade,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:24784932]",y,y +GARD:0017720,Orphanet,435934,ORPHA:435934,13,HP:0005484,Secondary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:24784932]",y,y +GARD:0017720,Orphanet,435934,ORPHA:435934,13,HP:0010818,Generalized tonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:24784932]",y,y +GARD:0017720,Orphanet,435934,ORPHA:435934,13,HP:0010837,Decreased circulating ceruloplasmin concentration,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:24784932]",y,y +GARD:0017720,Orphanet,435934,ORPHA:435934,13,HP:0011967,Decreased circulating copper concentration,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:24784932]",y,y +GARD:0017720,Orphanet,435934,ORPHA:435934,13,HP:0012506,Small pituitary gland,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:24784932]",y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0000028,Cryptorchidism,Obligate (100%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0000252,Microcephaly,Obligate (100%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0000303,Mandibular prognathia,Obligate (100%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0000954,Single transverse palmar crease,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0001250,Seizure,Obligate (100%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0001252,Hypotonia,Obligate (100%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0001601,Laryngomalacia,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0001999,Abnormal facial shape,Obligate (100%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0002020,Gastroesophageal reflux,Obligate (100%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0002719,Recurrent infections,Obligate (100%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0004415,Pulmonary artery stenosis,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0006380,Knee flexion contracture,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0006466,Ankle flexion contracture,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0008850,Severe postnatal growth retardation,Obligate (100%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0009796,Branchial cyst,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0012033,Sacral lipoma,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0012385,Camptodactyly,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017721,Orphanet,435938,ORPHA:435938,25,HP:0100716,Self-injurious behavior,Frequent (79-30%),TAS,,,,[PMID:25316788],y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0002187,"Intellectual disability, profound",Occasional (29-5%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0002300,Mutism,Frequent (79-30%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0002546,Incomprehensible speech,Occasional (29-5%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017724,Orphanet,436151,ORPHA:436151,16,HP:0012433,Abnormal social behavior,Frequent (79-30%),TAS,,,,"[PMID:25217958, PMID:26139234]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0000399,Prelingual sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0000408,Progressive sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0000519,Developmental cataract,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0000824,Decreased response to growth hormone stimulation test,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0002571,Achalasia,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0002655,Spondyloepiphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0002827,Hip dislocation,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0003162,Fasting hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0003416,Spinal canal stenosis,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0005659,Thoracic kyphoscoliosis,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0007470,Periarticular subcutaneous nodules,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0008445,Cervical spinal canal stenosis,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0008619,Bilateral sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017727,Orphanet,436174,ORPHA:436174,24,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,"[PMID:25130867, PMID:8409271]",y,y +GARD:0017728,Orphanet,436182,ORPHA:436182,9,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:25105364],y,y +GARD:0017728,Orphanet,436182,ORPHA:436182,9,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,[PMID:25105364],y,y +GARD:0017728,Orphanet,436182,ORPHA:436182,9,HP:0000831,Insulin-resistant diabetes mellitus,Very frequent (99-80%),TAS,,,,[PMID:25105364],y,y +GARD:0017728,Orphanet,436182,ORPHA:436182,9,HP:0001397,Hepatic steatosis,Very frequent (99-80%),TAS,,,,[PMID:25105364],y,y +GARD:0017728,Orphanet,436182,ORPHA:436182,9,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,[PMID:25105364],y,y +GARD:0017728,Orphanet,436182,ORPHA:436182,9,HP:0007875,Congenital blindness,Occasional (29-5%),TAS,,,,[PMID:25105364],y,y +GARD:0017728,Orphanet,436182,ORPHA:436182,9,HP:0008193,Primary gonadal insufficiency,Very frequent (99-80%),TAS,,,,[PMID:25105364],y,y +GARD:0017728,Orphanet,436182,ORPHA:436182,9,HP:0008890,Severe short-limb dwarfism,Very frequent (99-80%),TAS,,,,[PMID:25105364],y,y +GARD:0017728,Orphanet,436182,ORPHA:436182,9,HP:0010620,Malar prominence,Very frequent (99-80%),TAS,,,,[PMID:25105364],y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0000510,Rod-cone dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0000529,Progressive visual loss,Very frequent (99-80%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0000689,Dental malocclusion,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0000699,Diastema,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0001118,Juvenile cataract,Very frequent (99-80%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0001133,Constriction of peripheral visual field,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0002311,Incoordination,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0007675,Progressive night blindness,Very frequent (99-80%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0007791,Patchy atrophy of the retinal pigment epithelium,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0007965,Undetectable visual evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0009907,Attached earlobe,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017730,Orphanet,436245,ORPHA:436245,27,HP:0010761,Broad columella,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:24916380]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0000778,Hypoplasia of the thymus,Occasional (29-5%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0000872,Hashimoto thyroiditis,Very rare (<4-1%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0001539,Omphalocele,Very rare (<4-1%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0001890,Autoimmune hemolytic anemia,Very rare (<4-1%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0002223,Absent eyebrow,Frequent (79-30%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0002293,Alopecia of scalp,Occasional (29-5%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0002589,Gastrointestinal atresia,Very frequent (99-80%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0002722,Recurrent abscess formation,Occasional (29-5%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0002960,Autoimmunity,Very rare (<4-1%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0003765,Psoriasiform dermatitis,Very rare (<4-1%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0004430,Severe combined immunodeficiency,Very frequent (99-80%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0005224,Rectal abscess,Occasional (29-5%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0005229,Jejunoileal ulceration,Frequent (79-30%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0008404,Nail dystrophy,Very rare (<4-1%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0010766,Ectopic calcification,Very frequent (99-80%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0010959,Congenital pulmonary airway malformation,Very rare (<4-1%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0011100,Intestinal atresia,Very frequent (99-80%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0012115,Hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0025085,Bloody diarrhea,Frequent (79-30%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0100592,Peritoneal abscess,Occasional (29-5%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0100651,Type I diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017731,Orphanet,436252,ORPHA:436252,30,HP:0100889,Abnormality of the ductus choledochus,Occasional (29-5%),TAS,,,,"[PMID:1250662, PMID:15137007, PMID:2240032, PMID:23423984, PMID:4470900, PMID:4752999, PMID:5091250, PMID:514679, PMID:6637476, PMID:7554349]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0000817,Poor eye contact,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0002151,Increased serum lactate,Occasional (29-5%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0002506,Diffuse cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0006808,Cerebral hypomyelination,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0006895,Lower limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0007024,Pseudobulbar paralysis,Occasional (29-5%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0007153,Progressive extrapyramidal movement disorder,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0007179,Absent smooth pursuit,Occasional (29-5%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0007281,Developmental stagnation,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0009062,Infantile axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017734,Orphanet,438114,ORPHA:438114,27,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:13558772, PMID:24777941, PMID:25649058, PMID:27234264]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0002180,Neurodegeneration,Very frequent (99-80%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0007763,Retinal telangiectasia,Frequent (79-30%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0031087,Absent pubertal growth spurt,Frequent (79-30%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017736,Orphanet,438134,ORPHA:438134,16,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,"[PMID:24911150, PMID:26255937]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000028,Cryptorchidism,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000076,Vesicoureteral reflux,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000126,Hydronephrosis,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000139,Uterine prolapse,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000543,Optic disc pallor,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000549,Abnormal conjugate eye movement,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000787,Nephrolithiasis,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000818,Abnormality of the endocrine system,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000870,Increased circulating prolactin concentration,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000938,Osteopenia,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0000977,Soft skin,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001262,Excessive daytime somnolence,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001331,Absent septum pellucidum,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001631,Atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001642,Pulmonic stenosis,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001647,Bicuspid aortic valve,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001655,Patent foramen ovale,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0001903,Anemia,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002002,Deep philtrum,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002045,Hypothermia,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002058,Myopathic facies,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002104,Apnea,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002136,Broad-based gait,Very frequent (99-80%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002267,Exaggerated startle response,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002791,Hypoventilation,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0005957,Breathing dysregulation,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0007193,Bilateral tonic-clonic seizure on awakening,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0007655,Eversion of lateral third of lower eyelids,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0007874,Almond-shaped palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0009890,High anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0010536,Central sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0010818,Generalized tonic seizure,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0010862,Delayed fine motor development,Very frequent (99-80%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0010863,Receptive language delay,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0011097,Epileptic spasm,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0011747,Abnormality of the anterior pituitary,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0012171,Stereotypical hand wringing,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0025313,Exophoria,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0030890,Hyperintensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0031253,Anomalous origin of left subclavian artery,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0031622,Brown anomaly,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0040303,Decreased serum iron,Very rare (<4-1%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0100247,Recurrent singultus,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0100512,Low levels of vitamin D,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017739,Orphanet,438213,ORPHA:438213,86,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:28448108, PMID:29097605]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000297,Facial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000637,Long palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0002058,Myopathic facies,Frequent (79-30%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0002267,Exaggerated startle response,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0006481,Abnormality of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0006829,Severe muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0008572,External ear malformation,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0010804,Tented upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0011081,Incisor macrodontia,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0012899,Handgrip myotonia,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017740,Orphanet,438216,ORPHA:438216,38,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:25342064, PMID:25439098, PMID:27148565, PMID:28448108]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000283,Broad face,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000637,Long palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0001230,Broad metacarpals,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0001769,Broad foot,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0001783,Broad metatarsal,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0001831,Short toe,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0002003,Large forehead,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0002684,Thickened calvaria,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0003165,Elevated circulating parathyroid hormone level,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0003301,Irregular vertebral endplates,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0005274,Prominent nasal tip,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0005819,Short middle phalanx of finger,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0006009,Broad phalanx,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0008457,Caudal interpedicular narrowing,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0009803,Short phalanx of finger,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0009824,Upper limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0010055,Broad hallux,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0010579,Cone-shaped epiphysis,Frequent (79-30%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0010665,Bilateral coxa valga,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0010743,Short metatarsal,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017742,Orphanet,439822,ORPHA:439822,60,HP:0045025,Narrow palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:21594994, PMID:24203977, PMID:28515031, PMID:30006632]",y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0001639,Hypertrophic cardiomyopathy,Very frequent (99-80%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0001667,Right ventricular hypertrophy,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0001716,Wolff-Parkinson-White syndrome,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0002415,Leukodystrophy,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0003388,Easy fatigability,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0008347,Decreased activity of mitochondrial complex IV,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0010307,Stridor,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0011923,Decreased activity of mitochondrial complex I,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0012666,Severely reduced ejection fraction,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0012696,Abnormal thalamic MRI signal intensity,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0012747,Abnormal brainstem MRI signal intensity,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0012751,Abnormal basal ganglia MRI signal intensity,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0012763,Paroxysmal dyspnea,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017759,Orphanet,444013,ORPHA:444013,27,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,[PMID:25434004],y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000074,Ureteropelvic junction obstruction,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000675,Macrodontia of permanent maxillary central incisor,Very frequent (99-80%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000679,Taurodontia,Very frequent (99-80%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000689,Dental malocclusion,Very frequent (99-80%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0002280,Enlarged cisterna magna,Frequent (79-30%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0002365,Hypoplasia of the brainstem,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0002418,Abnormal midbrain morphology,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0002509,Limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0003100,Slender long bone,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0003510,Severe short stature,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0004970,Ascending tubular aorta aneurysm,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0005135,Abnormal T-wave,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0006511,Laryngeal stridor,Frequent (79-30%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0006970,Periventricular leukomalacia,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0007068,Inferior cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0007835,S-shaped palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0008366,Contractures involving the joints of the feet,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0009085,Alveolar ridge overgrowth,Frequent (79-30%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0011406,Infancy onset short-trunk short stature,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0012110,Hypoplasia of the pons,Occasional (29-5%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017761,Orphanet,444072,ORPHA:444072,52,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:25561519, PMID:27748960]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0000012,Urinary urgency,Frequent (79-30%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0000726,Dementia,Excluded (0%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0001250,Seizure,Excluded (0%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0002314,Degeneration of the lateral corticospinal tracts,Very frequent (99-80%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0002921,Abnormality of the cerebrospinal fluid,Excluded (0%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0007199,Progressive spastic paraparesis,Frequent (79-30%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0008075,Progressive pes cavus,Occasional (29-5%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0008944,Distal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017763,Orphanet,444099,ORPHA:444099,19,HP:0012898,Abnormal lower-limb motor evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:23973755, PMID:25751282]",y,y +GARD:0017766,Orphanet,444463,ORPHA:444463,14,HP:0000403,Recurrent otitis media,Very frequent (99-80%),TAS,,,,"[PMID:25414442, PMID:25525876]",y,y +GARD:0017766,Orphanet,444463,ORPHA:444463,14,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:25414442, PMID:25525876]",y,y +GARD:0017766,Orphanet,444463,ORPHA:444463,14,HP:0001297,Stroke,Very frequent (99-80%),TAS,,,,"[PMID:25414442, PMID:25525876]",y,y +GARD:0017766,Orphanet,444463,ORPHA:444463,14,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:25414442, PMID:25525876]",y,y +GARD:0017766,Orphanet,444463,ORPHA:444463,14,HP:0001878,Hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:25414442, PMID:25525876]",y,y +GARD:0017766,Orphanet,444463,ORPHA:444463,14,HP:0001888,Lymphopenia,Very frequent (99-80%),TAS,,,,"[PMID:25414442, PMID:25525876]",y,y +GARD:0017766,Orphanet,444463,ORPHA:444463,14,HP:0001890,Autoimmune hemolytic anemia,Very frequent (99-80%),TAS,,,,"[PMID:25414442, PMID:25525876]",y,y +GARD:0017766,Orphanet,444463,ORPHA:444463,14,HP:0001973,Autoimmune thrombocytopenia,Obligate (100%),TAS,,,,"[PMID:25414442, PMID:25525876]",y,y +GARD:0017766,Orphanet,444463,ORPHA:444463,14,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,"[PMID:25414442, PMID:25525876]",y,y +GARD:0017766,Orphanet,444463,ORPHA:444463,14,HP:0002725,Systemic lupus erythematosus,Very frequent (99-80%),TAS,,,,"[PMID:25414442, PMID:25525876]",y,y +GARD:0017766,Orphanet,444463,ORPHA:444463,14,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:25414442, PMID:25525876]",y,y +GARD:0017766,Orphanet,444463,ORPHA:444463,14,HP:0011343,Moderate global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25414442, PMID:25525876]",y,y +GARD:0017766,Orphanet,444463,ORPHA:444463,14,HP:0011947,Respiratory tract infection,Very frequent (99-80%),TAS,,,,"[PMID:25414442, PMID:25525876]",y,y +GARD:0017766,Orphanet,444463,ORPHA:444463,14,HP:0012115,Hepatitis,Very frequent (99-80%),TAS,,,,"[PMID:25414442, PMID:25525876]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0000107,Renal cyst,Very frequent (99-80%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0000121,Nephrocalcinosis,Very frequent (99-80%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001298,Encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001875,Neutropenia,Very frequent (99-80%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0001998,Neonatal hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0002107,Pneumothorax,Very rare (<4-1%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0002134,Abnormality of the basal ganglia,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0002179,Opisthotonus,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0003535,3-Methylglutaconic aciduria,Very frequent (99-80%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0005528,Bone marrow hypocellularity,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0007153,Progressive extrapyramidal movement disorder,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0011451,Primary microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017767,Orphanet,445038,ORPHA:445038,38,HP:0410256,Infection associated neutropenia,Frequent (79-30%),TAS,,,,"[PMID:25595726, PMID:25597510, PMID:25597511]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0002522,Areflexia of lower limbs,Frequent (79-30%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0006827,Atrophy of the spinal cord,Frequent (79-30%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0007108,Demyelinating peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0007366,Atrophy/Degeneration affecting the brainstem,Frequent (79-30%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0008619,Bilateral sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017768,Orphanet,445062,ORPHA:445062,15,HP:0010871,Sensory ataxia,Frequent (79-30%),TAS,,,,"[PMID:15793246, PMID:25466870]",y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0000016,Urinary retention,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0002371,Loss of speech,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0002395,Lower limb hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0002445,Tetraplegia,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0002476,Primitive reflex,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0002518,Abnormal periventricular white matter morphology,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0003438,Absent Achilles reflex,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0006938,Impaired vibration sensation at ankles,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0007350,Hyperreflexia in upper limbs,Very frequent (99-80%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0007371,Corpus callosum atrophy,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0031064,Impaired continence,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0017770,Orphanet,447760,ORPHA:447760,29,HP:0100515,Pollakisuria,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0017772,Orphanet,447877,ORPHA:447877,7,HP:0003002,Breast carcinoma,Occasional (29-5%),TAS,,,,"[PMID:23263490, PMID:23447401, PMID:24501277, PMID:25370038, PMID:26133394]",y,y +GARD:0017772,Orphanet,447877,ORPHA:447877,7,HP:0005227,Adenomatous colonic polyposis,Frequent (79-30%),TAS,,,,"[PMID:23263490, PMID:23447401, PMID:24501277, PMID:25370038, PMID:26133394]",y,y +GARD:0017772,Orphanet,447877,ORPHA:447877,7,HP:0012114,Endometrial carcinoma,Frequent (79-30%),TAS,,,,"[PMID:23263490, PMID:23447401, PMID:24501277, PMID:25370038, PMID:26133394]",y,y +GARD:0017772,Orphanet,447877,ORPHA:447877,7,HP:0030692,Brain neoplasm,Occasional (29-5%),TAS,,,,"[PMID:23263490, PMID:23447401, PMID:24501277, PMID:25370038, PMID:26133394]",y,y +GARD:0017772,Orphanet,447877,ORPHA:447877,7,HP:0040276,Adenocarcinoma of the colon,Occasional (29-5%),TAS,,,,"[PMID:23263490, PMID:23447401, PMID:24501277, PMID:25370038, PMID:26133394]",y,y +GARD:0017772,Orphanet,447877,ORPHA:447877,7,HP:0100743,Neoplasm of the rectum,Occasional (29-5%),TAS,,,,"[PMID:23263490, PMID:23447401, PMID:24501277, PMID:25370038, PMID:26133394]",y,y +GARD:0017772,Orphanet,447877,ORPHA:447877,7,HP:0200063,Colorectal polyposis,Frequent (79-30%),TAS,,,,"[PMID:23263490, PMID:23447401, PMID:24501277, PMID:25370038, PMID:26133394]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0000490,Deeply set eye,Very rare (<4-1%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0000511,Vertical supranuclear gaze palsy,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0000617,Abnormality of ocular smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0000677,Oligodontia,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0002134,Abnormality of the basal ganglia,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0002166,Impaired vibration sensation in the lower limbs,Occasional (29-5%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0002403,Positive Romberg sign,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0002415,Leukodystrophy,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0003429,CNS hypomyelination,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0005341,Autonomic bladder dysfunction,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0006858,Impaired distal proprioception,Occasional (29-5%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0007359,Focal-onset seizure,Very rare (<4-1%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017774,Orphanet,447896,ORPHA:447896,41,HP:0025460,High myoinositol in brain by MRS,Frequent (79-30%),TAS,,,,"[PMID:12605447, PMID:15851747, PMID:17159124, PMID:17712733, PMID:20640464, PMID:22036171]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000276,Long face,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000303,Mandibular prognathia,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000400,Macrotia,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000403,Recurrent otitis media,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000718,Aggressive behavior,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000733,Motor stereotypy,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000735,Impaired social interactions,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000737,Irritability,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000817,Poor eye contact,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000836,Hyperthyroidism,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0000963,Thin skin,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0001252,Hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0001388,Joint laxity,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0001634,Mitral valve prolapse,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0001763,Pes planus,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0002020,Gastroesophageal reflux,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0002360,Sleep disturbance,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0002442,Dyscalculia,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0002616,Aortic root aneurysm,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0011220,Prominent forehead,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0025160,Abnormal temper tantrums,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0100023,Recurrent hand flapping,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0100716,Self-injurious behavior,Very rare (<4-1%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017783,Orphanet,449291,ORPHA:449291,41,HP:0100962,Shyness,Occasional (29-5%),TAS,,,,"[PMID:19026394, PMID:20301558, PMID:27312842, PMID:28617938]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000119,Abnormality of the genitourinary system,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000126,Hydronephrosis,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000221,Furrowed tongue,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000476,Cystic hygroma,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000586,Shallow orbits,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000589,Coloboma,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000637,Long palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000677,Oligodontia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001627,Abnormal heart morphology,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001883,Talipes,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0001954,Recurrent fever,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0002046,Heat intolerance,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0002282,Gray matter heterotopia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0002465,Poor speech,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0002579,Gastrointestinal dysmotility,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0003186,Inverted nipples,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0003763,Bruxism,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0004467,Preauricular pit,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0004970,Ascending tubular aorta aneurysm,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0005487,Prominent metopic ridge,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0006695,Atrioventricular canal defect,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0007550,Hypohidrosis or hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0009794,Branchial anomaly,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0010880,Increased nuchal translucency,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0011024,Abnormality of the gastrointestinal tract,Very rare (<4-1%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0011039,Abnormal helix morphology,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017785,Orphanet,453499,ORPHA:453499,71,HP:0025487,Abnormality of bladder morphology,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0000666,Horizontal nystagmus,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0001350,Slurred speech,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0002470,Nonprogressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0009617,Abnormality of the distal phalanx of the thumb,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0031435,Monotonic speech,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017786,Orphanet,453521,ORPHA:453521,24,HP:0040196,Mild microcephaly,Frequent (79-30%),TAS,,,,"[PMID:15981765, PMID:25361784, PMID:26197978, PMID:27016154]",y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0001730,Progressive hearing impairment,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0005978,Type II diabetes mellitus,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0007108,Demyelinating peripheral neuropathy,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0010627,Anterior pituitary hypoplasia,Occasional (29-5%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0011787,Central hypothyroidism,Occasional (29-5%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0030341,Decreased circulating follicle stimulating hormone concentration,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0030344,Decreased circulating luteinizing hormone level,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0040171,Decreased serum testosterone concentration,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0040216,Hypoinsulinemia,Occasional (29-5%),TAS,,,,[PMID:25248098],y,y +GARD:0017787,Orphanet,453533,ORPHA:453533,23,HP:0100287,EMG: slow motor conduction,Frequent (79-30%),TAS,,,,[PMID:25248098],y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0000138,Ovarian cyst,Occasional (29-5%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0002671,Basal cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0002858,Meningioma,Frequent (79-30%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0002860,Squamous cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0003002,Breast carcinoma,Frequent (79-30%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0003003,Colon cancer,Frequent (79-30%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0005227,Adenomatous colonic polyposis,Very frequent (99-80%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0006725,Pancreatic adenocarcinoma,Occasional (29-5%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0006771,Duodenal adenocarcinoma,Occasional (29-5%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0008069,Neoplasm of the skin,Frequent (79-30%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0009725,Bladder neoplasm,Frequent (79-30%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0012114,Endometrial carcinoma,Frequent (79-30%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0012539,Non-Hodgkin lymphoma,Occasional (29-5%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0031287,Seborrheic keratosis,Occasional (29-5%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017790,Orphanet,454840,ORPHA:454840,15,HP:0100743,Neoplasm of the rectum,Frequent (79-30%),TAS,,,,"[PMID:25938944, PMID:26559593]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0000049,Shawl scrotum,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0000309,Abnormality of the midface,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0000577,Exotropia,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001530,Mild postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001738,Exocrine pancreatic insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001771,Achilles tendon contracture,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001772,Talipes equinovalgus,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001844,Abnormality of the hallux,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0003431,Decreased motor nerve conduction velocity,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0003448,Decreased sensory nerve conduction velocity,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0003693,Distal amyotrophy,Very frequent (99-80%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0005484,Secondary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0006276,Hyperechogenic pancreas,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0008366,Contractures involving the joints of the feet,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0009463,Ulnar deviation of the 3rd finger,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0009464,Ulnar deviation of the 2nd finger,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0009473,Joint contracture of the hand,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0009623,Proximal placement of thumb,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0012418,Hypoxemia,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0030146,Abnormal liver parenchyma morphology,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0030951,Skeletal muscle fibrosis,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0100307,Cerebellar hemisphere hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0100800,Aplasia/Hypoplasia of the pancreas,Occasional (29-5%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017791,Orphanet,456312,ORPHA:456312,48,HP:0100807,Long fingers,Frequent (79-30%),TAS,,,,"[PMID:27129381, PMID:31057140]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0000048,Bifid scrotum,Frequent (79-30%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0000807,Glandular hypospadias,Frequent (79-30%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0000808,Penoscrotal hypospadias,Frequent (79-30%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0000883,Thin ribs,Occasional (29-5%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0001382,Joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0003244,Penile hypospadias,Frequent (79-30%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017792,Orphanet,456328,ORPHA:456328,15,HP:0040314,Blind vagina,Frequent (79-30%),TAS,,,,"[PMID:10449925, PMID:8789451]",y,y +GARD:0017794,Orphanet,457050,ORPHA:457050,13,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,"[PMID:25193783, PMID:9324076]",y,y +GARD:0017794,Orphanet,457050,ORPHA:457050,13,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:25193783, PMID:9324076]",y,y +GARD:0017794,Orphanet,457050,ORPHA:457050,13,HP:0003200,Ragged-red muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:25193783, PMID:9324076]",y,y +GARD:0017794,Orphanet,457050,ORPHA:457050,13,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:25193783, PMID:9324076]",y,y +GARD:0017794,Orphanet,457050,ORPHA:457050,13,HP:0003722,Neck flexor weakness,Frequent (79-30%),TAS,,,,"[PMID:25193783, PMID:9324076]",y,y +GARD:0017794,Orphanet,457050,ORPHA:457050,13,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:25193783, PMID:9324076]",y,y +GARD:0017794,Orphanet,457050,ORPHA:457050,13,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:25193783, PMID:9324076]",y,y +GARD:0017794,Orphanet,457050,ORPHA:457050,13,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:25193783, PMID:9324076]",y,y +GARD:0017794,Orphanet,457050,ORPHA:457050,13,HP:0008997,Proximal muscle weakness in upper limbs,Occasional (29-5%),TAS,,,,"[PMID:25193783, PMID:9324076]",y,y +GARD:0017794,Orphanet,457050,ORPHA:457050,13,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:25193783, PMID:9324076]",y,y +GARD:0017794,Orphanet,457050,ORPHA:457050,13,HP:0012240,Increased intramyocellular lipid droplets,Frequent (79-30%),TAS,,,,"[PMID:25193783, PMID:9324076]",y,y +GARD:0017794,Orphanet,457050,ORPHA:457050,13,HP:0030319,Weakness of facial musculature,Frequent (79-30%),TAS,,,,"[PMID:25193783, PMID:9324076]",y,y +GARD:0017794,Orphanet,457050,ORPHA:457050,13,HP:0040014,Increased mitochondrial number,Frequent (79-30%),TAS,,,,"[PMID:25193783, PMID:9324076]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0000308,Microretrognathia,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0000341,Narrow forehead,Very frequent (99-80%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0002465,Poor speech,Very frequent (99-80%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0004467,Preauricular pit,Occasional (29-5%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0007678,Lacrimal duct stenosis,Occasional (29-5%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017797,Orphanet,457193,ORPHA:457193,39,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,"[PMID:25728775, PMID:25728777]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0000073,Ureteral duplication,Occasional (29-5%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0000742,Self-mutilation,Frequent (79-30%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0000748,Inappropriate laughter,Occasional (29-5%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0002378,Hand tremor,Frequent (79-30%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0003002,Breast carcinoma,Occasional (29-5%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0005580,Duplication of renal pelvis,Occasional (29-5%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0012114,Endometrial carcinoma,Occasional (29-5%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017798,Orphanet,457212,ORPHA:457212,22,HP:0045025,Narrow palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:25704603, PMID:25970702]",y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000716,Depression,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000742,Self-mutilation,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0002171,Gliosis,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0002487,Hyperkinetic movements,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0004437,Cranial hyperostosis,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0006986,Upper limb spasticity,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0007033,Cerebellar dysplasia,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,[PMID:26166480],y,y +GARD:0017800,Orphanet,457240,ORPHA:457240,37,HP:0025502,Overweight,Frequent (79-30%),TAS,,,,[PMID:26166480],y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000176,Submucous cleft hard palate,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000218,High palate,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000219,Thin upper lip vermilion,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000260,Wide anterior fontanel,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000268,Dolichocephaly,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000324,Facial asymmetry,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000343,Long philtrum,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000483,Astigmatism,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000744,Low frustration tolerance,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001137,Alternating esotropia,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001284,Areflexia,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001357,Plagiocephaly,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001374,Congenital hip dislocation,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001583,Rotary nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001631,Atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001647,Bicuspid aortic valve,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001655,Patent foramen ovale,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001943,Hypoglycemia,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0002007,Frontal bossing,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0002021,Pyloric stenosis,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0002028,Chronic diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0002389,Cavum septum pellucidum,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0002558,Supernumerary nipple,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0005216,Impaired mastication,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0005988,Congenital muscular torticollis,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0011937,Hypoplastic fifth toenail,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0025160,Abnormal temper tantrums,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0031936,Delayed ability to walk,Very frequent (99-80%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0100350,Contracture of the proximal interphalangeal joint of the 4th toe,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017802,Orphanet,457279,ORPHA:457279,61,HP:0100702,Arachnoid cyst,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:25972378, PMID:26168268, PMID:26576547]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0000151,Aplasia of the uterus,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0000297,Facial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0001382,Joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0003250,Aplasia of the vagina,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0006955,Olivopontocerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0010055,Broad hallux,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0010721,Abnormal hair whorl,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0012304,Hypoplastic aortic arch,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0025607,Upper eyelid entropion,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0100259,Postaxial polydactyly,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017803,Orphanet,457284,ORPHA:457284,38,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26168268, PMID:31687265]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0000733,Motor stereotypy,Very rare (<4-1%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0000817,Poor eye contact,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0001631,Atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002121,Generalized non-motor (absence) seizure,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002283,Global brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002451,Limb dystonia,Very rare (<4-1%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002509,Limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0003189,Long nose,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0004532,Sacral hypertrichosis,Very rare (<4-1%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0006808,Cerebral hypomyelination,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0006863,Severe expressive language delay,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0010838,High nonceruloplasmin-bound serum copper,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0011229,Broad eyebrow,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0011290,EEG with frontal sharp slow waves,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0011352,Severe receptive language delay,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0011451,Primary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0011471,Gastrostomy tube feeding in infancy,Very rare (<4-1%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0020049,Exodeviation,Very rare (<4-1%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017804,Orphanet,457351,ORPHA:457351,50,HP:0100716,Self-injurious behavior,Very rare (<4-1%),TAS,,,,"[PMID:26299366, PMID:27246907, PMID:27683084]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000297,Facial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000472,Long neck,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000586,Shallow orbits,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0000735,Impaired social interactions,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001334,Communicating hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001355,Megalencephaly,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001519,Disproportionate tall stature,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001533,Slender build,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001548,Overgrowth,Very frequent (99-80%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001555,Asymmetry of the thorax,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001833,Long foot,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001998,Neonatal hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0006863,Severe expressive language delay,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0007074,Thick corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0007204,Diffuse white matter abnormalities,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0011003,High myopia,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0011229,Broad eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0011330,Metopic synostosis,Occasional (29-5%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017805,Orphanet,457359,ORPHA:457359,54,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:26138117, PMID:26153217, PMID:27108999]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0000598,Abnormality of the ear,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0000766,Abnormal sternum morphology,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001377,Limited elbow extension,Occasional (29-5%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001498,Carpal bone hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001838,Rocker bottom foot,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001845,Overlapping toe,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0001863,Toe clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0002651,Spondyloepimetaphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0002677,Small foramen magnum,Occasional (29-5%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0002812,Coxa vara,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0002815,Abnormality of the knee,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0002944,Thoracolumbar scoliosis,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0002967,Cubitus valgus,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0003100,Slender long bone,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0003275,Narrow pelvis bone,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0003521,Disproportionate short-trunk short stature,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0004568,Beaking of vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0004592,Thoracic platyspondyly,Occasional (29-5%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0004689,Short fourth metatarsal,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0005096,Distal femoral bowing,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0005639,Hyperextensible hand joints,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0006461,Proximal femoral epiphysiolysis,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0006863,Severe expressive language delay,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0008812,Flattened femoral head,Occasional (29-5%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0010579,Cone-shaped epiphysis,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0010585,Small epiphyses,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0010804,Tented upper lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0012428,Prominent calcaneus,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0012471,Thick vermilion border,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0030292,Tibial metaphyseal irregularity,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0030293,Fibular metaphyseal irregularity,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0030427,Ossifying fibroma of the jaw,Occasional (29-5%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0040261,Increased size of nasopharyngeal adenoids,Frequent (79-30%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017808,Orphanet,457395,ORPHA:457395,73,HP:0100864,Short femoral neck,Very frequent (99-80%),TAS,,,,"[PMID:26365341, PMID:30063090]",y,y +GARD:0017810,Orphanet,458798,ORPHA:458798,3,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,[PMID:25477146],y,y +GARD:0017810,Orphanet,458798,ORPHA:458798,3,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,[PMID:25477146],y,y +GARD:0017810,Orphanet,458798,ORPHA:458798,3,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,[PMID:25477146],y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0000012,Urinary urgency,Frequent (79-30%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0000571,Hypometric saccades,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0000802,Impotence,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0001152,Saccadic smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0001317,Abnormal cerebellum morphology,Very frequent (99-80%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0002317,Unsteady gait,Very frequent (99-80%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0002322,Resting tremor,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0002346,Head tremor,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0002511,Alzheimer disease,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0003765,Psoriasiform dermatitis,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0006938,Impaired vibration sensation at ankles,Frequent (79-30%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0007351,Upper limb postural tremor,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0007366,Atrophy/Degeneration affecting the brainstem,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0007979,Gaze-evoked horizontal nystagmus,Frequent (79-30%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0012708,Reduced brain N-acetyl aspartate level by MRS,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0012759,Neurodevelopmental abnormality,Very frequent (99-80%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0030890,Hyperintensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017811,Orphanet,458803,ORPHA:458803,32,HP:0031166,Eyelid myokymia,Frequent (79-30%),TAS,,,,"[PMID:26456284, PMID:26715324]",y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0000483,Astigmatism,Frequent (79-30%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0001310,Dysmetria,Very frequent (99-80%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0002495,Impaired vibratory sensation,Very frequent (99-80%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0008944,Distal lower limb amyotrophy,Very frequent (99-80%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0012511,Temporal optic disc pallor,Frequent (79-30%),TAS,,,,[PMID:26179919],y,y +GARD:0017813,Orphanet,459056,ORPHA:459056,16,HP:0030187,Titubation,Occasional (29-5%),TAS,,,,[PMID:26179919],y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0000243,Trigonocephaly,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0000687,Widely spaced teeth,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0000805,Enuresis,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0001305,Dandy-Walker malformation,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0001970,Tubulointerstitial nephritis,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0004442,Sagittal craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0004482,Relative macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0007291,Posterior fossa cyst,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0012385,Camptodactyly,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0012712,Mild hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0030799,Scaphocephaly,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017814,Orphanet,459061,ORPHA:459061,40,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:26220823, PMID:29362492, PMID:29410513]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000308,Microretrognathia,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0002655,Spondyloepiphyseal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0004415,Pulmonary artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0005750,Contractures of the joints of the lower limbs,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0006698,Dilatation of the ventricular cavity,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0009381,Short finger,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0010818,Generalized tonic seizure,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0012032,Lipoma,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0012811,Wide nasal ridge,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0031535,Increased theta frequency activity in EEG,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0040080,Anteverted ears,Frequent (79-30%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017815,Orphanet,459070,ORPHA:459070,63,HP:0045025,Narrow palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:25316788, PMID:25846674, PMID:26290468, PMID:29066376]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0000556,Retinal dystrophy,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0001437,Abnormality of the musculature of the lower limbs,Excluded (0%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0002380,Fasciculations,Excluded (0%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0008373,Puberty and gonadal disorders,Occasional (29-5%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0010219,Structural foot deformity,Occasional (29-5%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0011166,Focal myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0011401,Delayed peripheral myelination,Occasional (29-5%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0012762,Cerebral white matter atrophy,Occasional (29-5%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0025313,Exophoria,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017816,Orphanet,464282,ORPHA:464282,40,HP:0031087,Absent pubertal growth spurt,Frequent (79-30%),TAS,,,,"[PMID:26424145, PMID:26437029]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000089,Renal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000589,Coloboma,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000620,Dacryocystitis,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000818,Abnormality of the endocrine system,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000852,Pseudohypoparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0003065,Patellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0004689,Short fourth metatarsal,Very frequent (99-80%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0007074,Thick corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017817,Orphanet,464288,ORPHA:464288,45,HP:0031938,Abnormal conus terminalis morphology,Occasional (29-5%),TAS,,,,"[PMID:26437029, PMID:27718516, PMID:28902392]",y,y +GARD:0017819,Orphanet,464440,ORPHA:464440,8,HP:0002345,Action tremor,Frequent (79-30%),TAS,,,,[PMID:26004199],y,y +GARD:0017819,Orphanet,464440,ORPHA:464440,8,HP:0002356,Writer's cramp,Frequent (79-30%),TAS,,,,[PMID:26004199],y,y +GARD:0017819,Orphanet,464440,ORPHA:464440,8,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,[PMID:26004199],y,y +GARD:0017819,Orphanet,464440,ORPHA:464440,8,HP:0002530,Axial dystonia,Frequent (79-30%),TAS,,,,[PMID:26004199],y,y +GARD:0017819,Orphanet,464440,ORPHA:464440,8,HP:0004373,Focal dystonia,Frequent (79-30%),TAS,,,,[PMID:26004199],y,y +GARD:0017819,Orphanet,464440,ORPHA:464440,8,HP:0007351,Upper limb postural tremor,Frequent (79-30%),TAS,,,,[PMID:26004199],y,y +GARD:0017819,Orphanet,464440,ORPHA:464440,8,HP:0012048,Oromandibular dystonia,Very frequent (99-80%),TAS,,,,[PMID:26004199],y,y +GARD:0017819,Orphanet,464440,ORPHA:464440,8,HP:0012049,Laryngeal dystonia,Very frequent (99-80%),TAS,,,,[PMID:26004199],y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000221,Furrowed tongue,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000519,Developmental cataract,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0002263,Exaggerated cupid's bow,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0002389,Cavum septum pellucidum,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0002540,Inability to walk,Very frequent (99-80%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0005274,Prominent nasal tip,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0007082,Dilated third ventricle,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0007413,Nevus flammeus of the forehead,Very frequent (99-80%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0008499,High hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0009468,Deviation of the 2nd finger,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0009471,Contracture of the proximal interphalangeal joint of the 3rd finger,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0010186,Broad distal phalanx of the toes,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0010557,Overlapping fingers,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0011670,Left superior vena cava draining to coronary sinus,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0032077,Male urethral meatus stenosis,Occasional (29-5%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017821,Orphanet,464738,ORPHA:464738,69,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,"[PMID:25527630, PMID:25792360]",y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0000294,Low anterior hairline,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0000341,Narrow forehead,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0002470,Nonprogressive cerebellar ataxia,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017824,Orphanet,466688,ORPHA:466688,23,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,[PMID:25388005],y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0000011,Neurogenic bladder,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0000675,Macrodontia of permanent maxillary central incisor,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0002067,Bradykinesia,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0002068,Neuromuscular dysphagia,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0002268,Paroxysmal dystonia,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0002505,Loss of ambulation,Frequent (79-30%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0002882,Sudden episodic apnea,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0003800,Muscle abnormality related to mitochondrial dysfunction,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0005216,Impaired mastication,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0007020,Progressive spastic paraplegia,Obligate (100%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0007210,Lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0008110,Equinovarus deformity,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0008689,Bilateral cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0010549,Weakness due to upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0012407,Scissor gait,Frequent (79-30%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0025488,Detrusor sphincter dyssynergia,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017827,Orphanet,466722,ORPHA:466722,37,HP:0100785,Insomnia,Occasional (29-5%),TAS,,,,"[PMID:25851414, PMID:26553276, PMID:29126765]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0000020,Urinary incontinence,Very rare (<4-1%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0000467,Neck muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0001047,Atopic dermatitis,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0001272,Cerebellar atrophy,Very rare (<4-1%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0001290,Generalized hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0001620,High pitched voice,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0002411,Myokymia,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0002460,Distal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0002495,Impaired vibratory sensation,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0002747,Respiratory insufficiency due to muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0003130,Abnormal peripheral myelination,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0003324,Generalized muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0003325,Limb-girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0003390,Sensory axonal neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0003484,Upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0003701,Proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0003797,Limb-girdle muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0005879,Congenital finger flexion contractures,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0006597,Diaphragmatic paralysis,Very rare (<4-1%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0006827,Atrophy of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0006970,Periventricular leukomalacia,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0007002,Motor axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0007210,Lower limb amyotrophy,Very frequent (99-80%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0007230,Decreased distal sensory nerve action potential,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0007269,Spinal muscular atrophy,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0007327,Mixed demyelinating and axonal polyneuropathy,Very frequent (99-80%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0007641,Dyschromatopsia,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0008944,Distal lower limb amyotrophy,Very frequent (99-80%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0008948,Proximal upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0008959,Distal upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0008994,Proximal muscle weakness in lower limbs,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0008997,Proximal muscle weakness in upper limbs,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0009027,Foot dorsiflexor weakness,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0009129,Upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0009473,Joint contracture of the hand,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0010830,Impaired tactile sensation,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0012447,Abnormal myelination,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0012473,Tongue atrophy,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0012785,Flexion contracture of finger,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0030237,Hand muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0031947,Tongue tremor,Occasional (29-5%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0040131,Abnormal motor nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017829,Orphanet,466768,ORPHA:466768,73,HP:0100290,Abnormality of peripheral somatosensory evoked potentials,Very frequent (99-80%),TAS,,,,"[PMID:26497905, PMID:26659848, PMID:28678038, PMID:28771897, PMID:30624633]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000446,Narrow nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000687,Widely spaced teeth,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001533,Slender build,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001667,Right ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001711,Abnormal left ventricle morphology,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0002684,Thickened calvaria,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0004482,Relative macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0004684,Talipes valgus,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0006989,Dysplastic corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0007024,Pseudobulbar paralysis,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0007083,Hyperactive patellar reflex,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0007099,Chiari type I malformation,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0007449,Confetti-like hypopigmented macules,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0008689,Bilateral cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0009703,Synostosis involving the 1st metacarpal,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0010316,Ebstein anomaly of the tricuspid valve,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0010627,Anterior pituitary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0030872,Abnormal cardiac ventricular function,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0032009,Infantile constant exotropia,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017832,Orphanet,466791,ORPHA:466791,77,HP:0100962,Shyness,Frequent (79-30%),TAS,,,,"[PMID:26571461, PMID:27329731, PMID:27550220, PMID:30773818]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0000641,Dysmetric saccades,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0001152,Saccadic smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0001257,Spasticity,Very rare (<4-1%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0001347,Hyperreflexia,Very rare (<4-1%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0001395,Hepatic fibrosis,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0001762,Talipes equinovarus,Very rare (<4-1%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0006554,Acute hepatic failure,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0007663,Reduced visual acuity,Excluded (0%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0009055,Generalized limb muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017833,Orphanet,466794,ORPHA:466794,25,HP:0025268,Stuttering,Frequent (79-30%),TAS,,,,"[PMID:17571074, PMID:23175812, PMID:26581903]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0000356,Abnormality of the outer ear,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0000951,Abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0001845,Overlapping toe,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0004425,Flat forehead,Occasional (29-5%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017836,Orphanet,466926,ORPHA:466926,31,HP:0100777,Exostoses,Occasional (29-5%),TAS,,,,"[PMID:26246518, PMID:30288735, PMID:30997052]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0000011,Neurogenic bladder,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0000280,Coarse facial features,Excluded (0%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0001272,Cerebellar atrophy,Very rare (<4-1%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0001433,Hepatosplenomegaly,Excluded (0%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0002188,Delayed CNS myelination,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0002518,Abnormal periventricular white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0007204,Diffuse white matter abnormalities,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0007301,Oromotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017837,Orphanet,466934,ORPHA:466934,26,HP:0100704,Cerebral visual impairment,Very frequent (99-80%),TAS,,,,"[PMID:26307567, PMID:27120463]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000125,Pelvic kidney,Very rare (<4-1%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000321,Square face,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000356,Abnormality of the outer ear,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000395,Prominent antihelix,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000405,Conductive hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000637,Long palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0000954,Single transverse palmar crease,Very rare (<4-1%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0001763,Pes planus,Very rare (<4-1%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002069,Bilateral tonic-clonic seizure,Very rare (<4-1%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002121,Generalized non-motor (absence) seizure,Very rare (<4-1%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002370,Poor coordination,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Very rare (<4-1%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002579,Gastrointestinal dysmotility,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0004279,Short palm,Very rare (<4-1%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0008081,Pes valgus,Very rare (<4-1%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0010862,Delayed fine motor development,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0011822,Broad chin,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0030190,Oral motor hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0030863,Nasal flaring,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0100581,Dilatation of renal calices,Very rare (<4-1%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0100702,Arachnoid cyst,Very rare (<4-1%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017838,Orphanet,466943,ORPHA:466943,70,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000125,Pelvic kidney,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000321,Square face,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000395,Prominent antihelix,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000539,Abnormality of refraction,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000637,Long palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0001212,Prominent fingertip pads,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0001956,Truncal obesity,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0002086,Abnormality of the respiratory system,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0002793,Abnormal pattern of respiration,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0005288,Abnormality of the nares,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0009794,Branchial anomaly,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0011147,Typical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0011171,Simple febrile seizure,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0011822,Broad chin,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0012076,Borderline personality disorder,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0100581,Dilatation of renal calices,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0100702,Arachnoid cyst,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017839,Orphanet,466950,ORPHA:466950,68,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:26264232, PMID:29190062]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000125,Pelvic kidney,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000308,Microretrognathia,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000315,Abnormality of the orbital region,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0001339,Lissencephaly,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0001525,Severe failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0002126,Polymicrogyria,Frequent (79-30%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0002247,Duodenal atresia,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0002487,Hyperkinetic movements,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0002518,Abnormal periventricular white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0002539,Cortical dysplasia,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0004742,Abnormal renal collecting system morphology,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0006466,Ankle flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0006870,Lobar holoprosencephaly,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0006872,Cerebral hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0006955,Olivopontocerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0007165,Periventricular heterotopia,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0007333,Hypoplasia of the frontal lobes,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0007633,Bilateral microphthalmos,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0007843,Attenuation of retinal blood vessels,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0008619,Bilateral sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0009062,Infantile axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0009879,Simplified gyral pattern,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0009905,Thin ear helix,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0010692,2-5 finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0010705,4-5 finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0010767,Sacrococcygeal pilonidal abnormality,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0012110,Hypoplasia of the pons,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0012294,Abnormal occipital bone morphology,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0030260,Microphallus,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0100702,Arachnoid cyst,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017841,Orphanet,468631,ORPHA:468631,73,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:22939636, PMID:26608784, PMID:26940245, PMID:29967526, PMID:30121372]",y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0001123,Visual field defect,Frequent (79-30%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0001272,Cerebellar atrophy,Very rare (<4-1%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0002079,Hypoplasia of the corpus callosum,Very rare (<4-1%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0003445,EMG: neuropathic changes,Frequent (79-30%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0003477,Peripheral axonal neuropathy,Very frequent (99-80%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0007067,Distal peripheral sensory neuropathy,Frequent (79-30%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0007083,Hyperactive patellar reflex,Frequent (79-30%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0008314,Decreased activity of mitochondrial complex II,Frequent (79-30%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0009072,Decreased Achilles reflex,Frequent (79-30%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0011923,Decreased activity of mitochondrial complex I,Frequent (79-30%),TAS,,,,[PMID:25609768],y,y +GARD:0017842,Orphanet,468661,ORPHA:468661,19,HP:0012762,Cerebral white matter atrophy,Very rare (<4-1%),TAS,,,,[PMID:25609768],y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0002187,"Intellectual disability, profound",Very frequent (99-80%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0002490,Increased CSF lactate,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0002882,Sudden episodic apnea,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0002928,Decreased activity of the pyruvate dehydrogenase complex,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0006558,Decreased mitochondrial complex III activity in liver tissue,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0006829,Severe muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0008277,Abnormal blood zinc concentration,Very frequent (99-80%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0008314,Decreased activity of mitochondrial complex II,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0008347,Decreased activity of mitochondrial complex IV,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0008873,Disproportionate short-limb short stature,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0009826,Limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0010621,Cutaneous syndactyly of toes,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0012301,Type II transferrin isoform profile,Very frequent (99-80%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0012368,Flat face,Occasional (29-5%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0012736,Profound global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0025405,Visual fixation instability,Frequent (79-30%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017846,Orphanet,468699,ORPHA:468699,41,HP:0032098,Hypomanganesemia,Very frequent (99-80%),TAS,,,,"[PMID:26637978, PMID:26637979, PMID:27995398]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000706,Eruption failure,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000742,Self-mutilation,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0001674,Complete atrioventricular canal defect,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0002465,Poor speech,Very frequent (99-80%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0004691,2-3 toe syndactyly,Frequent (79-30%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0005484,Secondary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0007970,Congenital ptosis,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0009659,Partial absence of thumb,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0010035,Aplasia of the 1st metacarpal,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0011908,Unilateral radial aplasia,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0012450,Chronic constipation,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017850,Orphanet,476126,ORPHA:476126,55,HP:0200006,Slanting of the palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:18388777, PMID:26721934, PMID:27418539, PMID:28796471]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0001258,Spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0006829,Severe muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0011400,Abnormal CNS myelination,Occasional (29-5%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017853,Orphanet,477673,ORPHA:477673,22,HP:0011470,Nasogastric tube feeding in infancy,Frequent (79-30%),TAS,,,,"[PMID:25758935, PMID:27601654]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0001790,Nonimmune hydrops fetalis,Occasional (29-5%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0002133,Status epilepticus,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0002273,Tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0002506,Diffuse cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0003200,Ragged-red muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0007351,Upper limb postural tremor,Occasional (29-5%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0008347,Decreased activity of mitochondrial complex IV,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0010853,EEG with periodic lateralized epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0011923,Decreased activity of mitochondrial complex I,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0011924,Decreased activity of mitochondrial complex III,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0025517,Hypoplastic hippocampus,Occasional (29-5%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0031165,Multifocal seizures,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0100275,Diffuse cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017856,Orphanet,477774,ORPHA:477774,29,HP:0200134,Epileptic encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:25361775, PMID:25787132, PMID:30139652]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0000762,Decreased nerve conduction velocity,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0001719,Double outlet right ventricle,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0002623,Overriding aorta,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0003380,Decreased number of peripheral myelinated nerve fibers,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0005301,Persistent left superior vena cava,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0012210,Abnormal renal morphology,Frequent (79-30%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0012450,Chronic constipation,Frequent (79-30%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0031936,Delayed ability to walk,Very frequent (99-80%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0200101,Decreased/absent ankle reflexes,Frequent (79-30%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017859,Orphanet,477817,ORPHA:477817,46,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:14699617, PMID:18327785, PMID:26544804]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000041,Chordee,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000577,Exotropia,Frequent (79-30%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000657,Oculomotor apraxia,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0000998,Hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0001488,Bilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0002209,Sparse scalp hair,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0006895,Lower limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0009778,Short thumb,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0009890,High anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0011078,Abnormality of canine,Frequent (79-30%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0011832,Narrow nasal tip,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0012081,Enlarged cerebellum,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0012430,Cerebral white matter hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0030048,Colpocephaly,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017862,Orphanet,477993,ORPHA:477993,42,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,"[PMID:24838796, PMID:26656649]",y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0000488,Retinopathy,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0001138,Optic neuropathy,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0002069,Bilateral tonic-clonic seizure,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0002151,Increased serum lactate,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0002180,Neurodegeneration,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0002283,Global brain atrophy,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0002370,Poor coordination,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0002416,Subependymal cysts,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0002490,Increased CSF lactate,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0002579,Gastrointestinal dysmotility,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0002922,Increased CSF protein,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0003739,Myoclonic spasms,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0003808,Abnormal muscle tone,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0011451,Primary microcephaly,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0011923,Decreased activity of mitochondrial complex I,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0011924,Decreased activity of mitochondrial complex III,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0012332,Abnormal autonomic nervous system physiology,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0012448,Delayed myelination,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0030884,Gastrojejunal tube feeding in infancy,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0040078,Axonal degeneration,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017863,Orphanet,478029,ORPHA:478029,22,HP:0100275,Diffuse cerebellar atrophy,Very frequent (99-80%),TAS,,,,[PMID:26626369],y,y +GARD:0017868,Orphanet,480536,ORPHA:480536,14,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,[PMID:27476653],y,y +GARD:0017868,Orphanet,480536,ORPHA:480536,14,HP:0000131,Uterine leiomyoma,Frequent (79-30%),TAS,,,,[PMID:27476653],y,y +GARD:0017868,Orphanet,480536,ORPHA:480536,14,HP:0000854,Thyroid adenoma,Frequent (79-30%),TAS,,,,[PMID:27476653],y,y +GARD:0017868,Orphanet,480536,ORPHA:480536,14,HP:0003003,Colon cancer,Frequent (79-30%),TAS,,,,[PMID:27476653],y,y +GARD:0017868,Orphanet,480536,ORPHA:480536,14,HP:0004394,Multiple gastric polyps,Frequent (79-30%),TAS,,,,[PMID:27476653],y,y +GARD:0017868,Orphanet,480536,ORPHA:480536,14,HP:0004784,Juvenile gastrointestinal polyposis,Very frequent (99-80%),TAS,,,,[PMID:27476653],y,y +GARD:0017868,Orphanet,480536,ORPHA:480536,14,HP:0005227,Adenomatous colonic polyposis,Very frequent (99-80%),TAS,,,,[PMID:27476653],y,y +GARD:0017868,Orphanet,480536,ORPHA:480536,14,HP:0008069,Neoplasm of the skin,Frequent (79-30%),TAS,,,,[PMID:27476653],y,y +GARD:0017868,Orphanet,480536,ORPHA:480536,14,HP:0009592,Astrocytoma,Frequent (79-30%),TAS,,,,[PMID:27476653],y,y +GARD:0017868,Orphanet,480536,ORPHA:480536,14,HP:0012126,Stomach cancer,Frequent (79-30%),TAS,,,,[PMID:27476653],y,y +GARD:0017868,Orphanet,480536,ORPHA:480536,14,HP:0012740,Papilloma,Frequent (79-30%),TAS,,,,[PMID:27476653],y,y +GARD:0017868,Orphanet,480536,ORPHA:480536,14,HP:0025274,Ovarian dermoid cyst,Occasional (29-5%),TAS,,,,[PMID:27476653],y,y +GARD:0017868,Orphanet,480536,ORPHA:480536,14,HP:0100743,Neoplasm of the rectum,Frequent (79-30%),TAS,,,,[PMID:27476653],y,y +GARD:0017868,Orphanet,480536,ORPHA:480536,14,HP:0200063,Colorectal polyposis,Very frequent (99-80%),TAS,,,,[PMID:27476653],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000253,Progressive microcephaly,Frequent (79-30%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000649,Abnormality of visual evoked potentials,Frequent (79-30%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0001212,Prominent fingertip pads,Frequent (79-30%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0007371,Corpus callosum atrophy,Very frequent (99-80%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0008755,Laryngotracheomalacia,Occasional (29-5%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0031954,Dystonic gait,Frequent (79-30%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0100275,Diffuse cerebellar atrophy,Very frequent (99-80%),TAS,,,,[PMID:26942288],y,y +GARD:0017871,Orphanet,480898,ORPHA:480898,31,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,[PMID:26942288],y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000336,Prominent supraorbital ridges,Frequent (79-30%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0001264,Spastic diplegia,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0002079,Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0002194,Delayed gross motor development,Very frequent (99-80%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0002395,Lower limb hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0006863,Severe expressive language delay,Very frequent (99-80%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0008468,Abnormal sacral segmentation,Very frequent (99-80%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0008472,Prominent protruding coccyx,Very frequent (99-80%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0012032,Lipoma,Occasional (29-5%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017872,Orphanet,480907,ORPHA:480907,45,HP:0200136,Oral-pharyngeal dysphagia,Frequent (79-30%),TAS,,,,"[PMID:26637982, PMID:30805980]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000253,Progressive microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000396,Overfolded helix,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0001382,Joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0002283,Global brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0002365,Hypoplasia of the brainstem,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0002509,Limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0002540,Inability to walk,Very frequent (99-80%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0003429,CNS hypomyelination,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0005072,Hyperextensibility at wrists,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0005659,Thoracic kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0006460,Increased laxity of ankles,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0007258,Severe demyelination of the white matter,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0010055,Broad hallux,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0011166,Focal myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0011229,Broad eyebrow,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017873,Orphanet,481152,ORPHA:481152,62,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:25865492, PMID:27130255, PMID:27860360]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0002200,Pseudobulbar signs,Very rare (<4-1%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0002317,Unsteady gait,Very frequent (99-80%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0003376,Steppage gait,Occasional (29-5%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0003474,Somatic sensory dysfunction,Excluded (0%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0003731,Quadriceps muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0005216,Impaired mastication,Very rare (<4-1%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0007210,Lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0008944,Distal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0008959,Distal upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0009050,Quadriceps muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0009072,Decreased Achilles reflex,Occasional (29-5%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0009129,Upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0030319,Weakness of facial musculature,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017878,Orphanet,482601,ORPHA:482601,23,HP:0031108,Triceps weakness,Frequent (79-30%),TAS,,,,"[PMID:26506222, PMID:27868399, PMID:28268051]",y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0000023,Inguinal hernia,Very rare (<4-1%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0000028,Cryptorchidism,Very rare (<4-1%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0000276,Long face,Very rare (<4-1%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0000307,Pointed chin,Very rare (<4-1%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0000716,Depression,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0001763,Pes planus,Very rare (<4-1%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0002072,Chorea,Very rare (<4-1%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0002073,Progressive cerebellar ataxia,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0002317,Unsteady gait,Very rare (<4-1%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0006970,Periventricular leukomalacia,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0006986,Upper limb spasticity,Very rare (<4-1%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0007302,Bipolar affective disorder,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0011167,Focal tonic seizure,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0011193,EEG with focal spikes,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0011800,Midface retrusion,Very rare (<4-1%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017880,Orphanet,485350,ORPHA:485350,45,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,[PMID:27550844],y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0000543,Optic disc pallor,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0000544,External ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0000649,Abnormality of visual evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0000758,Abnormal nonverbal communicative behavior,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0002521,Hypsarrhythmia,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0005484,Secondary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0009062,Infantile axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0011097,Epileptic spasm,Occasional (29-5%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0012087,Abnormal mitochondrial shape,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0012696,Abnormal thalamic MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0012736,Profound global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0012751,Abnormal basal ganglia MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0025112,Sound sensitivity,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017881,Orphanet,485421,ORPHA:485421,29,HP:0040288,Nasogastric tube feeding,Frequent (79-30%),TAS,,,,"[PMID:26783368, PMID:30361041]",y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0000467,Neck muscle weakness,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0001388,Joint laxity,Very frequent (99-80%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0001612,Weak cry,Occasional (29-5%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0002747,Respiratory insufficiency due to muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0002828,Multiple joint contractures,Occasional (29-5%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0003306,Spinal rigidity,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0003458,EMG: myopathic abnormalities,Very frequent (99-80%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0003687,Centrally nucleated skeletal muscle fibers,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0003690,Limb muscle weakness,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0003789,Minicore myopathy,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0007502,Follicular hyperkeratosis,Very frequent (99-80%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0008180,Mildly elevated creatine kinase,Occasional (29-5%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0010647,Abnormal elasticity of skin,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0011471,Gastrostomy tube feeding in infancy,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:27008887],y,y +GARD:0017883,Orphanet,486815,ORPHA:486815,30,HP:0025502,Overweight,Occasional (29-5%),TAS,,,,[PMID:27008887],y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000454,Flared nostrils,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000687,Widely spaced teeth,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000766,Abnormal sternum morphology,Frequent (79-30%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000818,Abnormality of the endocrine system,Frequent (79-30%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0002518,Abnormal periventricular white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0003764,Nevus,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0005160,Total anomalous pulmonary venous return,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0007033,Cerebellar dysplasia,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0007655,Eversion of lateral third of lower eyelids,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0009623,Proximal placement of thumb,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0010804,Tented upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0011877,Increased mean platelet volume,Frequent (79-30%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0100763,Abnormality of the lymphatic system,Occasional (29-5%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017884,Orphanet,487796,ORPHA:487796,71,HP:0410263,Brain imaging abnormality,Very frequent (99-80%),TAS,,,,"[PMID:26386261, PMID:26708094, PMID:29394990]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000289,Broad philtrum,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0000687,Widely spaced teeth,Very frequent (99-80%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0001212,Prominent fingertip pads,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0002536,Abnormal cortical gyration,Occasional (29-5%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0006191,Deep palmar crease,Very frequent (99-80%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0007367,Atrophy/Degeneration affecting the central nervous system,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0007552,Abnormal subcutaneous fat tissue distribution,Very frequent (99-80%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0007605,Excessive wrinkling of palmar skin,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0009381,Short finger,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0009890,High anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0009909,Uplifted earlobe,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0011341,Long upper lip,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0012043,Pendular nystagmus,Occasional (29-5%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0012811,Wide nasal ridge,Very frequent (99-80%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0045025,Narrow palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0100872,Abnormality of the plantar skin of foot,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017885,Orphanet,487825,ORPHA:487825,48,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:21834056, PMID:26769062, PMID:28562391, PMID:30365874]",y,y +GARD:0017887,Orphanet,488191,ORPHA:488191,6,HP:0000147,Polycystic ovaries,Excluded (0%),TAS,,,,"[PMID:20378111, PMID:26789871, PMID:28965844]",y,y +GARD:0017887,Orphanet,488191,ORPHA:488191,6,HP:0008222,Female infertility,Obligate (100%),TAS,,,,"[PMID:20378111, PMID:26789871, PMID:28965844]",y,y +GARD:0017887,Orphanet,488191,ORPHA:488191,6,HP:0008669,Abnormal spermatogenesis,Excluded (0%),TAS,,,,"[PMID:20378111, PMID:26789871, PMID:28965844]",y,y +GARD:0017887,Orphanet,488191,ORPHA:488191,6,HP:0020155,Abnormal oocyte morphology,Occasional (29-5%),TAS,,,,"[PMID:20378111, PMID:26789871, PMID:28965844]",y,y +GARD:0017887,Orphanet,488191,ORPHA:488191,6,HP:0031515,Abnormal meiosis,Obligate (100%),TAS,,,,"[PMID:20378111, PMID:26789871, PMID:28965844]",y,y +GARD:0017887,Orphanet,488191,ORPHA:488191,6,HP:0031516,Oocyte arrest at metaphase I,Frequent (79-30%),TAS,,,,"[PMID:20378111, PMID:26789871, PMID:28965844]",y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0001765,Hammertoe,Occasional (29-5%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0002166,Impaired vibration sensation in the lower limbs,Very frequent (99-80%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0003100,Slender long bone,Occasional (29-5%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0003376,Steppage gait,Frequent (79-30%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0003438,Absent Achilles reflex,Occasional (29-5%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0003474,Somatic sensory dysfunction,Very frequent (99-80%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0006937,Impaired distal tactile sensation,Occasional (29-5%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0007002,Motor axonal neuropathy,Frequent (79-30%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0007108,Demyelinating peripheral neuropathy,Very frequent (99-80%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0008954,Intrinsic hand muscle atrophy,Occasional (29-5%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0008959,Distal upper limb muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0012531,Pain,Occasional (29-5%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,[PMID:26072516],y,y +GARD:0017891,Orphanet,488333,ORPHA:488333,20,HP:0030237,Hand muscle weakness,Occasional (29-5%),TAS,,,,[PMID:26072516],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0000009,Functional abnormality of the bladder,Occasional (29-5%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0002070,Limb ataxia,Occasional (29-5%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0002395,Lower limb hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0007350,Hyperreflexia in upper limbs,Frequent (79-30%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,[PMID:27153400],y,y +GARD:0017892,Orphanet,488594,ORPHA:488594,17,HP:0011448,Ankle clonus,Occasional (29-5%),TAS,,,,[PMID:27153400],y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0000252,Microcephaly,Excluded (0%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0000396,Overfolded helix,Very rare (<4-1%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0000767,Pectus excavatum,Very rare (<4-1%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0002126,Polymicrogyria,Very rare (<4-1%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0002474,Expressive language delay,Frequent (79-30%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0002509,Limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0007772,Impaired smooth pursuit,Occasional (29-5%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0010841,Multifocal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0011198,EEG with generalized epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0012448,Delayed myelination,Very rare (<4-1%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017893,Orphanet,488613,ORPHA:488613,29,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:25485910, PMID:28087732]",y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0000554,Uveitis,Frequent (79-30%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0000869,Secondary amenorrhea,Occasional (29-5%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0001051,Seborrheic dermatitis,Occasional (29-5%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0001627,Abnormal heart morphology,Very frequent (99-80%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0003508,Proportionate short stature,Very frequent (99-80%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0011686,Abnormal coronary artery course,Occasional (29-5%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0025550,Elevated circulating ribitol concentration,Very frequent (99-80%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0100651,Type I diabetes mellitus,Occasional (29-5%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,[PMID:27259054],y,y +GARD:0017894,Orphanet,488618,ORPHA:488618,27,HP:0410072,Increased level of ribose in urine,Frequent (79-30%),TAS,,,,[PMID:27259054],y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0000253,Progressive microcephaly,Frequent (79-30%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0001531,Failure to thrive in infancy,Very frequent (99-80%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0001970,Tubulointerstitial nephritis,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0002193,Pseudobulbar behavioral symptoms,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0002367,Visual hallucinations,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0006989,Dysplastic corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0007052,Multifocal cerebral white matter abnormalities,Frequent (79-30%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0007334,Bilateral tonic-clonic seizure with focal onset,Frequent (79-30%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0012213,Decreased glomerular filtration rate,Frequent (79-30%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0040329,Multifocal hyperintensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0100702,Arachnoid cyst,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017895,Orphanet,488627,ORPHA:488627,41,HP:0100814,Blue nevus,Occasional (29-5%),TAS,,,,"[PMID:27055666, PMID:30308082, PMID:30697592]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000011,Neurogenic bladder,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000028,Cryptorchidism,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000303,Mandibular prognathia,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000343,Long philtrum,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000431,Wide nasal bridge,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000470,Short neck,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000490,Deeply set eye,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000582,Upslanted palpebral fissure,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000664,Synophrys,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000717,Autism,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000824,Decreased response to growth hormone stimulation test,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000836,Hyperthyroidism,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000878,11 pairs of ribs,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0000964,Eczema,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0001500,Broad finger,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0001540,Diastasis recti,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0001562,Oligohydramnios,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0001642,Pulmonic stenosis,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0001837,Broad toe,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0002045,Hypothermia,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0002099,Asthma,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0002283,Global brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0002518,Abnormal periventricular white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0003119,Abnormal circulating lipid concentration,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0003323,Progressive muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0003444,EMG: chronic denervation signs,Very frequent (99-80%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0004691,2-3 toe syndactyly,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0005487,Prominent metopic ridge,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0006829,Severe muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0007302,Bipolar affective disorder,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0007957,Corneal opacity,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0009826,Limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0010804,Tented upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0011198,EEG with generalized epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0011734,Central adrenal insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0012547,Abnormal involuntary eye movements,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0030084,Clinodactyly,Very rare (<4-1%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0031165,Multifocal seizures,Frequent (79-30%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0100288,EMG: myokymic discharges,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017896,Orphanet,488632,ORPHA:488632,73,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:25558065, PMID:27040691, PMID:27748029, PMID:29283439]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0001187,Hyperextensibility of the finger joints,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0002141,Gait imbalance,Frequent (79-30%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0002329,Drowsiness,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0007258,Severe demyelination of the white matter,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0010510,Hypermobility of toe joints,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0011193,EEG with focal spikes,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0030047,Abnormal lateral ventricle morphology,Frequent (79-30%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017897,Orphanet,488635,ORPHA:488635,33,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:26996948, PMID:28581210, PMID:31414351]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0000081,Duplicated collecting system,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0000308,Microretrognathia,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001583,Rotary nystagmus,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001734,Annular pancreas,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001838,Rocker bottom foot,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0002141,Gait imbalance,Very frequent (99-80%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0003273,Hip contracture,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0004692,4-5 toe syndactyly,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0006979,Sleep-wake cycle disturbance,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0008513,Bilateral conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0008780,Congenital bilateral hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0010296,Ankyloglossia,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0011451,Primary microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0020045,Esodeviation,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0030962,Abnormal morphology of the great vessels,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017898,Orphanet,488642,ORPHA:488642,52,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,"[PMID:27132593, PMID:28944240]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0000467,Neck muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0001284,Areflexia,Excluded (0%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0001962,Palpitations,Very rare (<4-1%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0002936,Distal sensory impairment,Excluded (0%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0003124,Hypercholesterolemia,Occasional (29-5%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0003326,Myalgia,Very rare (<4-1%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0003707,Calf muscle pseudohypertrophy,Frequent (79-30%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0003760,Percussion-induced rapid rolling muscle contractions,Occasional (29-5%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0008075,Progressive pes cavus,Frequent (79-30%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0008954,Intrinsic hand muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0008962,Calf muscle hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0009005,Weakness of the intrinsic hand muscles,Frequent (79-30%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0009063,Progressive distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0030089,Abnormal muscle fiber protein expression,Frequent (79-30%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017900,Orphanet,488650,ORPHA:488650,18,HP:0040081,Abnormal circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:11805270, PMID:18930476]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000659,Peters anomaly,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0007305,CNS demyelination,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0011229,Broad eyebrow,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0012803,Anisometropia,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0031910,Abnormal cranial nerve physiology,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017902,Orphanet,494344,ORPHA:494344,52,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:27087320, PMID:30896913]",y,y +GARD:0017905,Orphanet,494526,ORPHA:494526,13,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:27058446],y,y +GARD:0017905,Orphanet,494526,ORPHA:494526,13,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:27058446],y,y +GARD:0017905,Orphanet,494526,ORPHA:494526,13,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,[PMID:27058446],y,y +GARD:0017905,Orphanet,494526,ORPHA:494526,13,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,[PMID:27058446],y,y +GARD:0017905,Orphanet,494526,ORPHA:494526,13,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,[PMID:27058446],y,y +GARD:0017905,Orphanet,494526,ORPHA:494526,13,HP:0002310,Orofacial dyskinesia,Very frequent (99-80%),TAS,,,,[PMID:27058446],y,y +GARD:0017905,Orphanet,494526,ORPHA:494526,13,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,[PMID:27058446],y,y +GARD:0017905,Orphanet,494526,ORPHA:494526,13,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,[PMID:27058446],y,y +GARD:0017905,Orphanet,494526,ORPHA:494526,13,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,[PMID:27058446],y,y +GARD:0017905,Orphanet,494526,ORPHA:494526,13,HP:0011470,Nasogastric tube feeding in infancy,Frequent (79-30%),TAS,,,,[PMID:27058446],y,y +GARD:0017905,Orphanet,494526,ORPHA:494526,13,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:27058446],y,y +GARD:0017905,Orphanet,494526,ORPHA:494526,13,HP:0012444,Brain atrophy,Excluded (0%),TAS,,,,[PMID:27058446],y,y +GARD:0017905,Orphanet,494526,ORPHA:494526,13,HP:0100248,Hemiballismus,Occasional (29-5%),TAS,,,,[PMID:27058446],y,y +GARD:0017906,Orphanet,494541,ORPHA:494541,7,HP:0000726,Dementia,Excluded (0%),TAS,,,,[PMID:27058447],y,y +GARD:0017906,Orphanet,494541,ORPHA:494541,7,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,[PMID:27058447],y,y +GARD:0017906,Orphanet,494541,ORPHA:494541,7,HP:0002072,Chorea,Very frequent (99-80%),TAS,,,,[PMID:27058447],y,y +GARD:0017906,Orphanet,494541,ORPHA:494541,7,HP:0002194,Delayed gross motor development,Excluded (0%),TAS,,,,[PMID:27058447],y,y +GARD:0017906,Orphanet,494541,ORPHA:494541,7,HP:0002548,Parkinsonism with favorable response to dopaminergic medication,Occasional (29-5%),TAS,,,,[PMID:27058447],y,y +GARD:0017906,Orphanet,494541,ORPHA:494541,7,HP:0010994,Abnormal corpus striatum morphology,Frequent (79-30%),TAS,,,,[PMID:27058447],y,y +GARD:0017906,Orphanet,494541,ORPHA:494541,7,HP:0031206,Striatal T2 hyperintensity,Frequent (79-30%),TAS,,,,[PMID:27058447],y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0000011,Neurogenic bladder,Very rare (<4-1%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0000400,Macrotia,Very rare (<4-1%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0000687,Widely spaced teeth,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0000733,Motor stereotypy,Very rare (<4-1%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0000767,Pectus excavatum,Very rare (<4-1%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0000768,Pectus carinatum,Very rare (<4-1%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0001007,Hirsutism,Very rare (<4-1%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0001332,Dystonia,Very rare (<4-1%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0001374,Congenital hip dislocation,Very rare (<4-1%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002079,Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002191,Progressive spasticity,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Very rare (<4-1%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002445,Tetraplegia,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002524,Cataplexy,Very rare (<4-1%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002607,Bowel incontinence,Very rare (<4-1%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0003084,Fractures of the long bones,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0005484,Secondary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0006532,Recurrent pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0006808,Cerebral hypomyelination,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0007002,Motor axonal neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0007179,Absent smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0010818,Generalized tonic seizure,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0011451,Primary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0012450,Chronic constipation,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017911,Orphanet,496641,ORPHA:496641,56,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,"[PMID:27666370, PMID:27666374, PMID:27807845]",y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0000829,Hypoparathyroidism,Excluded (0%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0001510,Growth delay,Excluded (0%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0002425,Anarthria,Occasional (29-5%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0002448,Progressive encephalopathy,Very frequent (99-80%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0002497,Spastic ataxia,Very frequent (99-80%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0003444,EMG: chronic denervation signs,Frequent (79-30%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0003693,Distal amyotrophy,Very frequent (99-80%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0003698,Difficulty standing,Frequent (79-30%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0007199,Progressive spastic paraparesis,Occasional (29-5%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0007269,Spinal muscular atrophy,Very frequent (99-80%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,[PMID:27666369],y,y +GARD:0017914,Orphanet,496756,ORPHA:496756,24,HP:0012678,Iron accumulation in substantia nigra,Occasional (29-5%),TAS,,,,[PMID:27666369],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000276,Long face,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0003535,3-Methylglutaconic aciduria,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0005656,Positional foot deformity,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0007210,Lower limb amyotrophy,Frequent (79-30%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0007957,Corneal opacity,Very rare (<4-1%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0008936,Axial hypotonia,Very frequent (99-80%),TAS,,,,[PMID:27640307],y,y +GARD:0017915,Orphanet,496790,ORPHA:496790,36,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,[PMID:27640307],y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0000571,Hypometric saccades,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0000726,Dementia,Excluded (0%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0002073,Progressive cerebellar ataxia,Occasional (29-5%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0002396,Cogwheel rigidity,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0003387,Decreased number of large peripheral myelinated nerve fibers,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0003477,Peripheral axonal neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0006855,Cerebellar vermis atrophy,Occasional (29-5%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0008959,Distal upper limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017917,Orphanet,497764,ORPHA:497764,22,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:26991897, PMID:27583304, PMID:28855494]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0002099,Asthma,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0004482,Relative macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0006970,Periventricular leukomalacia,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0007082,Dilated third ventricle,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0008770,Obsessive-compulsive trait,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0012166,Skin-picking,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0012450,Chronic constipation,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0012762,Cerebral white matter atrophy,Frequent (79-30%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0025160,Abnormal temper tantrums,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0025502,Overweight,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017920,Orphanet,500055,ORPHA:500055,53,HP:0410263,Brain imaging abnormality,Very frequent (99-80%),TAS,,,,"[PMID:26365382, PMID:30679821]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000105,Enlarged kidney,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000311,Round face,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000480,Retinal coloboma,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000637,Long palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0001172,Abnormal thumb morphology,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0001634,Mitral valve prolapse,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0001707,Abnormal right ventricle morphology,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0001833,Long foot,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0001840,Metatarsus adductus,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0001847,Long hallux,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0002619,Varicose veins,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0002667,Nephroblastoma,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0002982,Tibial bowing,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0004712,Renal malrotation,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0011407,Proportionate tall stature,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0012385,Camptodactyly,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0030037,Bifid ureter,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0031069,Abnormal femoral torsion,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0100694,Tibial torsion,Occasional (29-5%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0410252,Chronic neutropenia,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017921,Orphanet,500095,ORPHA:500095,47,HP:0410255,Transient neutropenia,Frequent (79-30%),TAS,,,,"[PMID:26660953, PMID:27183861]",y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0000011,Neurogenic bladder,Occasional (29-5%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0001338,Partial agenesis of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0001605,Vocal cord paralysis,Occasional (29-5%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0002490,Increased CSF lactate,Occasional (29-5%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0005484,Secondary microcephaly,Occasional (29-5%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0007096,Hypoplasia of the optic tract,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0011097,Epileptic spasm,Occasional (29-5%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0011471,Gastrostomy tube feeding in infancy,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0012110,Hypoplasia of the pons,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0012796,Increased cup-to-disc ratio,Occasional (29-5%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0030043,Hip subluxation,Occasional (29-5%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017923,Orphanet,500144,ORPHA:500144,30,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,[PMID:28777934],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0000363,Abnormal earlobe morphology,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0002280,Enlarged cisterna magna,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0002365,Hypoplasia of the brainstem,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0002518,Abnormal periventricular white matter morphology,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0002786,Tracheobronchomalacia,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0003086,Acromesomelia,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0007033,Cerebellar dysplasia,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0008527,Congenital sensorineural hearing impairment,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0009237,Short 5th finger,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0009765,Low hanging columella,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0030515,Moderately reduced visual acuity,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017924,Orphanet,500159,ORPHA:500159,50,HP:0200007,Abnormal size of the palpebral fissures,Occasional (29-5%),TAS,,,,[PMID:28886345],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0001808,Fragile nails,Occasional (29-5%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0002213,Fine hair,Occasional (29-5%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0006989,Dysplastic corpus callosum,Occasional (29-5%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0032059,Mild malformation of cortical development,Frequent (79-30%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0040195,Decreased head circumference,Frequent (79-30%),TAS,,,,[PMID:27399968],y,y +GARD:0017925,Orphanet,500166,ORPHA:500166,20,HP:0410263,Brain imaging abnormality,Very frequent (99-80%),TAS,,,,[PMID:27399968],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0000737,Irritability,Very frequent (99-80%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0001118,Juvenile cataract,Occasional (29-5%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0002521,Hypsarrhythmia,Frequent (79-30%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0005949,Apneic episodes in infancy,Occasional (29-5%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0012171,Stereotypical hand wringing,Very frequent (99-80%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0012430,Cerebral white matter hypoplasia,Occasional (29-5%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,[PMID:28132692],y,y +GARD:0017930,Orphanet,500545,ORPHA:500545,23,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,[PMID:28132692],y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000543,Optic disc pallor,Very rare (<4-1%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000580,Pigmentary retinopathy,Very rare (<4-1%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000836,Hyperthyroidism,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0000870,Increased circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0002761,Generalized joint laxity,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0003391,Gowers sign,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0003737,Mitochondrial myopathy,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0009051,Increased muscle glycogen content,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0012032,Lipoma,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0012240,Increased intramyocellular lipid droplets,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0030319,Weakness of facial musculature,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0100874,Thick hair,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017934,Orphanet,502423,ORPHA:502423,47,HP:0100887,Abnormality of globe size,Frequent (79-30%),TAS,,,,"[PMID:28544275, PMID:28554942]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000050,Hypoplastic male external genitalia,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0001377,Limited elbow extension,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0001566,Widely-spaced maxillary central incisors,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0002817,Abnormality of the upper limb,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0045074,Thin eyebrow,Frequent (79-30%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017935,Orphanet,502434,ORPHA:502434,38,HP:0200134,Epileptic encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:28119487, PMID:30158690]",y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0007108,Demyelinating peripheral neuropathy,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017937,Orphanet,504476,ORPHA:504476,16,HP:0008568,Vestibular areflexia,Frequent (79-30%),TAS,,,,[PMID:26669662],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0000718,Aggressive behavior,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0001298,Encephalopathy,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0001533,Slender build,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0002059,Cerebral atrophy,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0002133,Status epilepticus,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0002151,Increased serum lactate,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0002169,Clonus,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0002194,Delayed gross motor development,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0003535,3-Methylglutaconic aciduria,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0007204,Diffuse white matter abnormalities,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0011925,Decreased activity of mitochondrial ATP synthase complex,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017940,Orphanet,505216,ORPHA:505216,25,HP:0031936,Delayed ability to walk,Very frequent (99-80%),TAS,,,,[PMID:27573165],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000276,Long face,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000637,Long palpebral fissure,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0000960,Sacral dimple,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001187,Hyperextensibility of the finger joints,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0001845,Overlapping toe,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0002510,Spastic tetraplegia,Occasional (29-5%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0003121,Limb joint contracture,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0005469,Flat occiput,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0008772,Aplasia/Hypoplasia of the external ear,Occasional (29-5%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0012450,Chronic constipation,Occasional (29-5%),TAS,,,,[PMID:28343629],y,y +GARD:0017942,Orphanet,505237,ORPHA:505237,53,HP:0100021,Cerebral palsy,Very rare (<4-1%),TAS,,,,[PMID:28343629],y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000100,Nephrotic syndrome,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000105,Enlarged kidney,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000629,Periorbital fullness,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000943,Dysostosis multiplex,Very frequent (99-80%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0000998,Hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001433,Hepatosplenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001552,Barrel-shaped chest,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0001928,Abnormality of coagulation,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0002086,Abnormality of the respiratory system,Very frequent (99-80%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0002092,Pulmonary arterial hypertension,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0002159,Heparan sulfate excretion in urine,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0002942,Thoracic kyphosis,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0003496,Increased circulating IgM level,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0003541,Urinary glycosaminoglycan excretion,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0004315,Decreased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0006191,Deep palmar crease,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0006536,Airway obstruction,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0008454,Lumbar kyphosis,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0010307,Stridor,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0012597,Heavy proteinuria,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0025356,Psychomotor retardation,Very frequent (99-80%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0031123,Recurrent gastroenteritis,Frequent (79-30%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0100874,Thick hair,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017944,Orphanet,505248,ORPHA:505248,71,HP:0410263,Brain imaging abnormality,Occasional (29-5%),TAS,,,,"[PMID:28013294, PMID:31070736, PMID:31936524]",y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0000252,Microcephaly,Obligate (100%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0002191,Progressive spasticity,Obligate (100%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0002194,Delayed gross motor development,Obligate (100%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0002395,Lower limb hyperreflexia,Obligate (100%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0002493,Upper motor neuron dysfunction,Occasional (29-5%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0007020,Progressive spastic paraplegia,Obligate (100%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0007199,Progressive spastic paraparesis,Obligate (100%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0007220,Demyelinating motor neuropathy,Frequent (79-30%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0007768,Central retinal vessel vascular tortuosity,Frequent (79-30%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0007814,Retinal pigment epithelial mottling,Obligate (100%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0008376,"Nasal, dysarthic speech",Obligate (100%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0008848,Moderately short stature,Obligate (100%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0011448,Ankle clonus,Obligate (100%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0030182,Tetraplegia/tetraparesis,Occasional (29-5%),TAS,,,,[PMID:28052917],y,y +GARD:0017946,Orphanet,506353,ORPHA:506353,22,HP:0030625,Hyporeflective spaces on macular OCT,Frequent (79-30%),TAS,,,,[PMID:28052917],y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000074,Ureteropelvic junction obstruction,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000297,Facial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000629,Periorbital fullness,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0000974,Hyperextensible skin,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0002032,Esophageal atresia,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0002171,Gliosis,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0002236,Frontal upsweep of hair,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0003006,Neuroblastoma,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0003187,Breast hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0005684,Distal arthrogryposis,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0006094,Finger joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0007678,Lacrimal duct stenosis,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0008944,Distal lower limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0010316,Ebstein anomaly of the tricuspid valve,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0010499,Patellar subluxation,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0011311,Sydney crease,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0011339,Abnormality of upper lip vermillion,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0011471,Gastrostomy tube feeding in infancy,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017947,Orphanet,506358,ORPHA:506358,73,HP:0200136,Oral-pharyngeal dysphagia,Frequent (79-30%),TAS,,,,"[PMID:28575647, PMID:31145572]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000089,Renal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000125,Pelvic kidney,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000308,Microretrognathia,Frequent (79-30%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000480,Retinal coloboma,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000589,Coloboma,Frequent (79-30%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000974,Hyperextensible skin,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0000998,Hypertrichosis,Frequent (79-30%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0001052,Nevus flammeus,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0001660,Truncus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0001738,Exocrine pancreatic insufficiency,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0002761,Generalized joint laxity,Frequent (79-30%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0002942,Thoracic kyphosis,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0002943,Thoracic scoliosis,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0002949,Fused cervical vertebrae,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0003835,Shoulder subluxation,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0005620,Hypermobility of interphalangeal joints,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0006009,Broad phalanx,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0006695,Atrioventricular canal defect,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0006712,Aplasia/Hypoplasia of the ribs,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0006970,Periventricular leukomalacia,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0007687,Unilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0007874,Almond-shaped palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0008467,Thoracic hemivertebrae,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0009237,Short 5th finger,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0009997,Duplication of phalanx of hand,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0010055,Broad hallux,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0011682,Perimembranous ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0011842,Abnormal skeletal morphology,Frequent (79-30%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0012487,Cerebellopontine angle arachnoid cyst,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0012745,Short palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0012795,Abnormality of the optic disc,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0025481,Cervical hemivertebrae,Occasional (29-5%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017948,Orphanet,508498,ORPHA:508498,78,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,"[PMID:28327570, PMID:30352594]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0000011,Neurogenic bladder,Frequent (79-30%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0000317,Facial myokymia,Very rare (<4-1%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0000605,Supranuclear gaze palsy,Frequent (79-30%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0000666,Horizontal nystagmus,Frequent (79-30%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0000738,Hallucinations,Very rare (<4-1%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0001272,Cerebellar atrophy,Very frequent (99-80%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0002478,Progressive spastic quadriplegia,Frequent (79-30%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0002518,Abnormal periventricular white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0003202,Skeletal muscle atrophy,Excluded (0%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0003390,Sensory axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0003477,Peripheral axonal neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0003482,EMG: axonal abnormality,Very frequent (99-80%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0007153,Progressive extrapyramidal movement disorder,Very rare (<4-1%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0007240,Progressive gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0008075,Progressive pes cavus,Frequent (79-30%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017952,Orphanet,513436,ORPHA:513436,28,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:27165006, PMID:27217339, PMID:28137957, PMID:29112699, PMID:29112700]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000168,Abnormality of the gingiva,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000687,Widely spaced teeth,Very frequent (99-80%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0001840,Metatarsus adductus,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0002121,Generalized non-motor (absence) seizure,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0002779,Tracheomalacia,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0005274,Prominent nasal tip,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0005338,Sparse lateral eyebrow,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0005750,Contractures of the joints of the lower limbs,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0006808,Cerebral hypomyelination,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0006897,Abducens palsy,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0007800,Increased axial length of the globe,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0008762,Repetitive compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0010740,Osteopathia striata,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0010800,Absent cupid's bow,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0010803,Everted upper lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0011342,Mild global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0011842,Abnormal skeletal morphology,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0012020,Right aortic arch,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0012172,Stereotypical body rocking,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0012683,Pineal cyst,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0025186,Marcus Gunn jaw winking synkinesis,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0025336,Delayed ability to sit,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0040115,Abnormal Eustachian tube morphology,Occasional (29-5%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017953,Orphanet,513456,ORPHA:513456,62,HP:0430028,Hyperplasia of the maxilla,Very frequent (99-80%),TAS,,,,"[PMID:28686853, PMID:31021590]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0000297,Facial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0008050,Abnormality of the palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017955,Orphanet,521258,ORPHA:521258,20,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,"[PMID:16840569, PMID:23637084]",y,y +GARD:0017957,Orphanet,521390,ORPHA:521390,14,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,[PMID:27005418],y,y +GARD:0017957,Orphanet,521390,ORPHA:521390,14,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,[PMID:27005418],y,y +GARD:0017957,Orphanet,521390,ORPHA:521390,14,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:27005418],y,y +GARD:0017957,Orphanet,521390,ORPHA:521390,14,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:27005418],y,y +GARD:0017957,Orphanet,521390,ORPHA:521390,14,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,[PMID:27005418],y,y +GARD:0017957,Orphanet,521390,ORPHA:521390,14,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,[PMID:27005418],y,y +GARD:0017957,Orphanet,521390,ORPHA:521390,14,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,[PMID:27005418],y,y +GARD:0017957,Orphanet,521390,ORPHA:521390,14,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:27005418],y,y +GARD:0017957,Orphanet,521390,ORPHA:521390,14,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:27005418],y,y +GARD:0017957,Orphanet,521390,ORPHA:521390,14,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,[PMID:27005418],y,y +GARD:0017957,Orphanet,521390,ORPHA:521390,14,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,[PMID:27005418],y,y +GARD:0017957,Orphanet,521390,ORPHA:521390,14,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,[PMID:27005418],y,y +GARD:0017957,Orphanet,521390,ORPHA:521390,14,HP:0011400,Abnormal CNS myelination,Frequent (79-30%),TAS,,,,[PMID:27005418],y,y +GARD:0017957,Orphanet,521390,ORPHA:521390,14,HP:0025312,Esophoria,Frequent (79-30%),TAS,,,,[PMID:27005418],y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0000253,Progressive microcephaly,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0000338,Hypomimic face,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0002483,Bulbar signs,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0002505,Loss of ambulation,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0009062,Infantile axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0011448,Ankle clonus,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0012048,Oromandibular dystonia,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0012407,Scissor gait,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0032097,Hypermanganesemia,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017958,Orphanet,521406,ORPHA:521406,26,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:27231142, PMID:29382362, PMID:29685658]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0000954,Single transverse palmar crease,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0001187,Hyperextensibility of the finger joints,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0001283,Bulbar palsy,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0001830,Postaxial foot polydactyly,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0001838,Rocker bottom foot,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0002104,Apnea,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0002267,Exaggerated startle response,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0002352,Leukoencephalopathy,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0002478,Progressive spastic quadriplegia,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0002483,Bulbar signs,Occasional (29-5%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0002521,Hypsarrhythmia,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0002536,Abnormal cortical gyration,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0005781,Contractures of the large joints,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0007514,Edema of the dorsum of hands,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0008278,Cerebellar cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0012098,Edema of the dorsum of feet,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0012762,Cerebral white matter atrophy,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0031162,Impaired oropharyngeal swallow response,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017960,Orphanet,521426,ORPHA:521426,51,HP:0100807,Long fingers,Frequent (79-30%),TAS,,,,"[PMID:28007986, PMID:28413018]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0000244,Brachyturricephaly,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0000349,Widow's peak,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0000742,Self-mutilation,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0000817,Poor eye contact,Frequent (79-30%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0001776,Bilateral talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0002487,Hyperkinetic movements,Frequent (79-30%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0002871,Central apnea,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0002883,Hyperventilation,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0005274,Prominent nasal tip,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0005876,Progressive flexion contractures,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0007874,Almond-shaped palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0008138,Equinus calcaneus,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0008762,Repetitive compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0010850,EEG with spike-wave complexes,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0011194,EEG with series of focal spikes,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0011196,EEG with focal sharp waves,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0011228,Horizontal eyebrow,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0011445,Athetoid cerebral palsy,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0012169,Self-biting,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0025152,Poor visual behavior for age,Frequent (79-30%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0025247,Dermoid cyst,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0040296,Abnormal location of the eyebrow,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017962,Orphanet,522077,ORPHA:522077,56,HP:0100248,Hemiballismus,Occasional (29-5%),TAS,,,,"[PMID:25705886, PMID:30107533]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0000571,Hypometric saccades,Very frequent (99-80%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0002079,Hypoplasia of the corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0002191,Progressive spasticity,Frequent (79-30%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0002415,Leukodystrophy,Frequent (79-30%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0002599,Head titubation,Frequent (79-30%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0003429,CNS hypomyelination,Frequent (79-30%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0007704,Paroxysmal involuntary eye movements,Frequent (79-30%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0012534,Dysesthesia,Excluded (0%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017964,Orphanet,527497,ORPHA:527497,25,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:29388673, PMID:30285346]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000046,Small scrotum,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000275,Narrow face,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001085,Papilledema,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001105,Retinal atrophy,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001212,Prominent fingertip pads,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001249,Intellectual disability,Obligate (100%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001382,Joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001519,Disproportionate tall stature,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001611,Nasal speech,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0002236,Frontal upsweep of hair,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0002616,Aortic root aneurysm,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0004325,Decreased body weight,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0004482,Relative macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0004927,Pulmonary artery dilatation,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0006913,Frontal cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0006934,Congenital nystagmus,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0009921,Duane anomaly,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0010055,Broad hallux,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0010109,Short hallux,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0010863,Receptive language delay,Frequent (79-30%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0011081,Incisor macrodontia,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0025269,Panic attack,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0031629,Impaired tandem gait,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0040018,Clinodactyly of hallux,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017965,Orphanet,528084,ORPHA:528084,72,HP:0200021,Down-sloping shoulders,Occasional (29-5%),TAS,,,,"[PMID:27081531, PMID:29740699]",y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0000341,Narrow forehead,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0000505,Visual impairment,Very rare (<4-1%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0002133,Status epilepticus,Very rare (<4-1%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0003155,Elevated circulating alkaline phosphatase concentration,Excluded (0%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0003698,Difficulty standing,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017969,Orphanet,529665,ORPHA:529665,31,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,[PMID:29100095],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0001211,Abnormal fingertip morphology,Occasional (29-5%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0007874,Almond-shaped palpebral fissure,Frequent (79-30%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0008897,Postnatal growth retardation,Occasional (29-5%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0010648,Dermal translucency,Frequent (79-30%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0011098,Speech apraxia,Frequent (79-30%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,[PMID:28866611],y,y +GARD:0017970,Orphanet,529965,ORPHA:529965,19,HP:0012393,Allergy,Frequent (79-30%),TAS,,,,[PMID:28866611],y,y +GARD:0017971,Orphanet,529970,ORPHA:529970,7,HP:0000798,Oligospermia,Frequent (79-30%),TAS,,,,"[PMID:10402395, PMID:27640305, PMID:29298896, PMID:30032984]",y,y +GARD:0017971,Orphanet,529970,ORPHA:529970,7,HP:0002916,Abnormality of chromosome segregation,Excluded (0%),TAS,,,,"[PMID:10402395, PMID:27640305, PMID:29298896, PMID:30032984]",y,y +GARD:0017971,Orphanet,529970,ORPHA:529970,7,HP:0003251,Male infertility,Very frequent (99-80%),TAS,,,,"[PMID:10402395, PMID:27640305, PMID:29298896, PMID:30032984]",y,y +GARD:0017971,Orphanet,529970,ORPHA:529970,7,HP:0008226,Androgen insufficiency,Excluded (0%),TAS,,,,"[PMID:10402395, PMID:27640305, PMID:29298896, PMID:30032984]",y,y +GARD:0017971,Orphanet,529970,ORPHA:529970,7,HP:0012207,Reduced sperm motility,Frequent (79-30%),TAS,,,,"[PMID:10402395, PMID:27640305, PMID:29298896, PMID:30032984]",y,y +GARD:0017971,Orphanet,529970,ORPHA:529970,7,HP:0012867,Abnormal sperm mid-piece morphology,Occasional (29-5%),TAS,,,,"[PMID:10402395, PMID:27640305, PMID:29298896, PMID:30032984]",y,y +GARD:0017971,Orphanet,529970,ORPHA:529970,7,HP:0012869,Acephalic spermatozoa,Very frequent (99-80%),TAS,,,,"[PMID:10402395, PMID:27640305, PMID:29298896, PMID:30032984]",y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000410,Mixed hearing impairment,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000473,Torticollis,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000703,Dentinogenesis imperfecta,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000946,Hypoplastic ilia,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000974,Hyperextensible skin,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001027,"Soft, doughy skin",Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001075,Atrophic scars,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001181,Adducted thumb,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0001822,Hallux valgus,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0002616,Aortic root aneurysm,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0002651,Spondyloepimetaphyseal dysplasia,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0002779,Tracheomalacia,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0002828,Multiple joint contractures,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0002974,Radioulnar synostosis,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0003016,Metaphyseal widening,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0003300,Ovoid vertebral bodies,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0003414,Atlantoaxial dislocation,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0004568,Beaking of vertebral bodies,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0004970,Ascending tubular aorta aneurysm,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0004993,Slender long bones with narrow diaphyses,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0005008,Large joint dislocations,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0005678,Anterior atlanto-occipital dislocation,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0006243,Phalangeal dislocation,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0006522,Repeated pneumothoraces,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0008453,Congenital kyphoscoliosis,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0008807,Acetabular dysplasia,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0009726,Renal neoplasm,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0010575,Dysplasia of the femoral head,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0010646,Cervical spine instability,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0010648,Dermal translucency,Frequent (79-30%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0012095,Multiple joint dislocation,Very frequent (99-80%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0012366,Basilar invagination,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0012727,Thoracic aortic aneurysm,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0100750,Atelectasis,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017974,Orphanet,536467,ORPHA:536467,83,HP:0500087,Peripapillary atrophy,Occasional (29-5%),TAS,,,,[PMID:29931299],y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000189,Narrow palate,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000692,Tooth malposition,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000704,Periodontitis,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001097,Keratoconjunctivitis sicca,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001488,Bilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001634,Mitral valve prolapse,Frequent (79-30%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001765,Hammertoe,Very frequent (99-80%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001780,Abnormality of toe,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001822,Hallux valgus,Very frequent (99-80%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0002155,Hypertriglyceridemia,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0002616,Aortic root aneurysm,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0002619,Varicose veins,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0002933,Ventral hernia,Frequent (79-30%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0002943,Thoracic scoliosis,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0003042,Elbow dislocation,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0003834,Shoulder dislocation,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0003994,Dislocated wrist,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0004976,Knee dislocation,Frequent (79-30%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0006243,Phalangeal dislocation,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0006439,Radioulnar dislocation,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0006480,Premature loss of teeth,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0007457,Prominent veins on trunk,Frequent (79-30%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0008138,Equinus calcaneus,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0009938,Sunken cheeks,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0010810,Long uvula,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0025232,Bursitis,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0025509,Piezogenic pedal papules,Frequent (79-30%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0031158,Widened atrophic scar,Very frequent (99-80%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0100546,Carotid artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017975,Orphanet,536532,ORPHA:536532,63,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,"[PMID:27023906, PMID:29606302, PMID:30759870]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0000081,Duplicated collecting system,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0000311,Round face,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0000974,Hyperextensible skin,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001027,"Soft, doughy skin",Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001395,Hepatic fibrosis,Frequent (79-30%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001396,Cholestasis,Frequent (79-30%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0006129,Drumstick terminal phalanges,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0010648,Dermal translucency,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0025356,Psychomotor retardation,Very frequent (99-80%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0031831,Decreased serum zinc,Very frequent (99-80%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0100511,Abnormality of vitamin D metabolism,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0100633,Esophagitis,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017980,Orphanet,541423,ORPHA:541423,35,HP:0410263,Brain imaging abnormality,Occasional (29-5%),TAS,,,,"[PMID:27426735, PMID:27891590, PMID:29052218]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0000512,Abnormal electroretinogram,Frequent (79-30%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0000546,Retinal degeneration,Occasional (29-5%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0000563,Keratoconus,Occasional (29-5%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0000817,Poor eye contact,Occasional (29-5%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0001626,Abnormality of the cardiovascular system,Very frequent (99-80%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0001662,Bradycardia,Frequent (79-30%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0005155,Ventricular escape rhythm,Frequent (79-30%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0011704,Sick sinus syndrome,Frequent (79-30%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017982,Orphanet,542306,ORPHA:542306,22,HP:0012248,Prolonged PR interval,Occasional (29-5%),TAS,,,,"[PMID:27523599, PMID:32280589]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000561,Absent eyelashes,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000653,Sparse eyelashes,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000902,Rib fusion,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0001792,Small nail,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0002003,Large forehead,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0002209,Sparse scalp hair,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0002223,Absent eyebrow,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0002334,Abnormal cerebellar vermis morphology,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0002608,Celiac disease,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0006989,Dysplastic corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0007074,Thick corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0007082,Dilated third ventricle,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0007109,Periventricular cysts,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0008689,Bilateral cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0010880,Increased nuchal translucency,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0011276,Vascular skin abnormality,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0011309,Tapered toe,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0012450,Chronic constipation,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0012520,Dilation of Virchow-Robin spaces,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0032152,Keratosis pilaris,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0032671,Non-convulsive status epilepticus without coma,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017987,Orphanet,544488,ORPHA:544488,56,HP:0410018,Recurrent ear infections,Occasional (29-5%),TAS,,,,"[PMID:30239107, PMID:30475435]",y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0000331,Short chin,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0000341,Narrow forehead,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0000446,Narrow nasal bridge,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0000711,Restlessness,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0001382,Joint hypermobility,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0002164,Nail dysplasia,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0005072,Hyperextensibility at wrists,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0006070,Metacarpophalangeal joint contracture,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0006094,Finger joint hypermobility,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0007514,Edema of the dorsum of hands,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0010845,EEG with generalized slow activity,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0011185,EEG with focal epileptiform discharges,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0011432,High maternal serum alpha-fetoprotein,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0011471,Gastrostomy tube feeding in infancy,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0012098,Edema of the dorsum of feet,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0025373,Interictal EEG abnormality,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0025405,Visual fixation instability,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0040126,Abnormal vitamin B12 level,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,[PMID:30595371],y,y +GARD:0017988,Orphanet,544503,ORPHA:544503,49,HP:0200134,Epileptic encephalopathy,Frequent (79-30%),TAS,,,,[PMID:30595371],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0000218,High palate,Occasional (29-5%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0000269,Prominent occiput,Occasional (29-5%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0000857,Neonatal insulin-dependent diabetes mellitus,Frequent (79-30%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0001360,Holoprosencephaly,Frequent (79-30%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0002507,Semilobar holoprosencephaly,Occasional (29-5%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0006315,Solitary median maxillary central incisor,Occasional (29-5%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0009658,Aplasia/Hypoplasia of the phalanges of the thumb,Occasional (29-5%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0010669,Hypoplasia of the zygomatic bone,Occasional (29-5%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0010938,Abnormality of the external nose,Occasional (29-5%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0011467,Absent gallbladder,Frequent (79-30%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0012418,Hypoxemia,Occasional (29-5%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0030795,Reduced C-peptide level,Frequent (79-30%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0031209,Decreased circulating lipoprotein lipase concentration,Frequent (79-30%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0100801,Pancreatic aplasia,Frequent (79-30%),TAS,,,,[PMID:28525974],y,y +GARD:0017992,Orphanet,556955,ORPHA:556955,23,HP:0410289,Hypoamylasemia,Frequent (79-30%),TAS,,,,[PMID:28525974],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0000121,Nephrocalcinosis,Frequent (79-30%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0000519,Developmental cataract,Frequent (79-30%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0000599,Abnormality of the frontal hairline,Frequent (79-30%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0000677,Oligodontia,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0001297,Stroke,Frequent (79-30%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0002942,Thoracic kyphosis,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0003072,Hypercalcemia,Frequent (79-30%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0003090,Hypoplasia of the capital femoral epiphysis,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0006297,Enamel hypoplasia,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0006989,Dysplastic corpus callosum,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0007042,Focal white matter lesions,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0009237,Short 5th finger,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0009928,Thick nasal alae,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0010663,Abnormality of thalamus morphology,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0010761,Broad columella,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0011020,Abnormality of mucopolysaccharide metabolism,Frequent (79-30%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017993,Orphanet,557003,ORPHA:557003,38,HP:0100255,Metaphyseal dysplasia,Occasional (29-5%),TAS,,,,[PMID:31034465],y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0000543,Optic disc pallor,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0000762,Decreased nerve conduction velocity,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0000817,Poor eye contact,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0001662,Bradycardia,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0001998,Neonatal hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0002058,Myopathic facies,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0002151,Increased serum lactate,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0002490,Increased CSF lactate,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0002509,Limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0005745,Congenital foot contractures,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0006957,Loss of ability to walk,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0007321,Deep white matter hypodensities,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0007366,Atrophy/Degeneration affecting the brainstem,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0007371,Corpus callosum atrophy,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0008763,No social interaction,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0009062,Infantile axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0011448,Ankle clonus,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0012379,Abnormal enzyme/coenzyme activity,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0012428,Prominent calcaneus,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0017999,Orphanet,565624,ORPHA:565624,52,HP:0031959,Leg dystonia,Occasional (29-5%),TAS,,,,"[PMID:26016410, PMID:29075935]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0000097,Focal segmental glomerulosclerosis,Frequent (79-30%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0001510,Growth delay,Very rare (<4-1%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0001967,Diffuse mesangial sclerosis,Very rare (<4-1%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0002204,Pulmonary embolism,Very rare (<4-1%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0002586,Peritonitis,Very rare (<4-1%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0003073,Hypoalbuminemia,Very frequent (99-80%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0003119,Abnormal circulating lipid concentration,Very frequent (99-80%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0003124,Hypercholesterolemia,Frequent (79-30%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0004936,Venous thrombosis,Very rare (<4-1%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0011947,Respiratory tract infection,Occasional (29-5%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0012579,Minimal change glomerulonephritis,Frequent (79-30%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0012590,Abnormal urine output,Occasional (29-5%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0031265,Abnormal glomerular visceral epithelial cell morphology,Very frequent (99-80%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0031504,Foamy urine,Occasional (29-5%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0100539,Periorbital edema,Occasional (29-5%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018003,Orphanet,567548,ORPHA:567548,24,HP:0100724,Hypercoagulability,Frequent (79-30%),TAS,,,,"[PMID:29910038, PMID:31831576, PMID:32382828]",y,y +GARD:0018005,Orphanet,570422,ORPHA:570422,10,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:33181226],y,y +GARD:0018005,Orphanet,570422,ORPHA:570422,10,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,[PMID:33181226],y,y +GARD:0018005,Orphanet,570422,ORPHA:570422,10,HP:0001396,Cholestasis,Occasional (29-5%),TAS,,,,[PMID:33181226],y,y +GARD:0018005,Orphanet,570422,ORPHA:570422,10,HP:0001410,Decreased liver function,Occasional (29-5%),TAS,,,,[PMID:33181226],y,y +GARD:0018005,Orphanet,570422,ORPHA:570422,10,HP:0001508,Failure to thrive,Very rare (<4-1%),TAS,,,,[PMID:33181226],y,y +GARD:0018005,Orphanet,570422,ORPHA:570422,10,HP:0002240,Hepatomegaly,Very rare (<4-1%),TAS,,,,[PMID:33181226],y,y +GARD:0018005,Orphanet,570422,ORPHA:570422,10,HP:0004915,Impairment of galactose metabolism,Very frequent (99-80%),TAS,,,,[PMID:33181226],y,y +GARD:0018005,Orphanet,570422,ORPHA:570422,10,HP:0012024,Hypergalactosemia,Very frequent (99-80%),TAS,,,,[PMID:33181226],y,y +GARD:0018005,Orphanet,570422,ORPHA:570422,10,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,[PMID:33181226],y,y +GARD:0018005,Orphanet,570422,ORPHA:570422,10,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,[PMID:33181226],y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001998,Neonatal hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002187,"Intellectual disability, profound",Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002198,Dilated fourth ventricle,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002305,Athetosis,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002352,Leukoencephalopathy,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002365,Hypoplasia of the brainstem,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002510,Spastic tetraplegia,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0002518,Abnormal periventricular white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0003698,Difficulty standing,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0003700,Generalized amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0005656,Positional foot deformity,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0007772,Impaired smooth pursuit,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0009062,Infantile axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0012379,Abnormal enzyme/coenzyme activity,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0012430,Cerebral white matter hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0031165,Multifocal seizures,Occasional (29-5%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018012,Orphanet,572798,ORPHA:572798,57,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,"[PMID:28236339, PMID:28650581, PMID:28905505, PMID:29783990]",y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000218,High palate,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0000951,Abnormality of the skin,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0001382,Joint hypermobility,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0002608,Celiac disease,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0011147,Typical absence seizure,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0040082,Happy demeanor,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0100886,Abnormality of globe location,Occasional (29-5%),TAS,,,,[PMID:28139846],y,y +GARD:0018013,Orphanet,576283,ORPHA:576283,48,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,[PMID:28139846],y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0001279,Syncope,Frequent (79-30%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0001637,Abnormal myocardium morphology,Frequent (79-30%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0001644,Dilated cardiomyopathy,Very frequent (99-80%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0001645,Sudden cardiac death,Frequent (79-30%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0003560,Muscular dystrophy,Occasional (29-5%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0004308,Ventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0004749,Atrial flutter,Occasional (29-5%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0004755,Supraventricular tachycardia,Occasional (29-5%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0005110,Atrial fibrillation,Frequent (79-30%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0005162,Abnormal left ventricular function,Frequent (79-30%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0009125,Lipodystrophy,Frequent (79-30%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0012722,Heart block,Occasional (29-5%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0012723,Sinoatrial block,Occasional (29-5%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0031409,Abnormal lymphocyte physiology,Occasional (29-5%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018615,Orphanet,300751,ORPHA:300751,17,HP:0031546,Cardiac conduction abnormality,Very frequent (99-80%),TAS,,,,"[PMID:16407522, PMID:23463027, PMID:7546997, PMID:8567977]",y,y +GARD:0018639,Orphanet,316,ORPHA:316,3,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018639,Orphanet,316,ORPHA:316,3,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018639,Orphanet,316,ORPHA:316,3,HP:0200035,Skin plaque,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0000179,Thick lower lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0000629,Periorbital fullness,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0000637,Long palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0002187,"Intellectual disability, profound",Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0002245,Meckel diverticulum,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0005824,Clinodactyly of the 2nd toe,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0006118,Shortening of all distal phalanges of the fingers,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0008504,Moderate sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0008587,Mild neurosensory hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018640,Orphanet,777,ORPHA:777,37,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:10398246, PMID:12089445, PMID:17333282, PMID:17480217, PMID:22511892, PMID:28863211]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0000729,Autistic behavior,Very rare (<4-1%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0000739,Anxiety,Very rare (<4-1%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0001337,Tremor,Very rare (<4-1%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0001763,Pes planus,Very rare (<4-1%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0002067,Bradykinesia,Very rare (<4-1%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0002121,Generalized non-motor (absence) seizure,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0002133,Status epilepticus,Very rare (<4-1%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0002197,Generalized-onset seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0002311,Incoordination,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0002384,Focal impaired awareness seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0002539,Cortical dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0003066,Limited knee extension,Very rare (<4-1%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0004684,Talipes valgus,Very rare (<4-1%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0007058,Generalized cerebral atrophy/hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0007359,Focal-onset seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0008770,Obsessive-compulsive trait,Very rare (<4-1%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0010850,EEG with spike-wave complexes,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0011151,Atypical absence status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018641,Orphanet,36387,ORPHA:36387,28,HP:0100694,Tibial torsion,Very rare (<4-1%),TAS,,,,"[PMID:20301494, PMID:25917466, PMID:26339958]",y,y +GARD:0018642,Orphanet,46532,ORPHA:46532,6,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018642,Orphanet,46532,ORPHA:46532,6,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018642,Orphanet,46532,ORPHA:46532,6,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018642,Orphanet,46532,ORPHA:46532,6,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018642,Orphanet,46532,ORPHA:46532,6,HP:0003330,Abnormal bone structure,Frequent (79-30%),TAS,,,,,y,y +GARD:0018642,Orphanet,46532,ORPHA:46532,6,HP:0011904,Persistence of hemoglobin F,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0000716,Depression,Very rare (<4-1%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0001256,"Intellectual disability, mild",Very rare (<4-1%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0001331,Absent septum pellucidum,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0002539,Cortical dysplasia,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0007048,Large basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0010841,Multifocal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0011097,Epileptic spasm,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0011185,EEG with focal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0011198,EEG with generalized epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018643,Orphanet,88616,ORPHA:88616,38,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:26912939, PMID:29031008, PMID:29851452, PMID:30167849]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000267,Cranial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000766,Abnormal sternum morphology,Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0001520,Large for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0001548,Overgrowth,Very frequent (99-80%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0001641,Abnormal pulmonary valve morphology,Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0005616,Accelerated skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0008058,Aplasia/Hypoplasia of the optic nerve,Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0012741,Unilateral cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018646,Orphanet,137634,ORPHA:137634,26,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:17632510, PMID:19291764, PMID:26368817]",y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0000091,Abnormal renal tubule morphology,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0000239,Large fontanelles,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0000586,Shallow orbits,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0001371,Flexion contracture,Obligate (100%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0001396,Cholestasis,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0001409,Portal hypertension,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0001540,Diastasis recti,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0001623,Breech presentation,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0002570,Steatorrhea,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0002611,Cholestatic liver disease,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0002804,Arthrogryposis multiplex congenita,Obligate (100%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0004840,Hypochromic microcytic anemia,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0008850,Severe postnatal growth retardation,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0011400,Abnormal CNS myelination,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0011998,Postprandial hyperglycemia,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0012115,Hepatitis,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0012157,Subcortical cerebral atrophy,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0012768,Neonatal asphyxia,Obligate (100%),TAS,,,,[PMID:25647543],y,y +GARD:0018652,Orphanet,440713,ORPHA:440713,28,HP:0100886,Abnormality of globe location,Frequent (79-30%),TAS,,,,[PMID:25647543],y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0001697,Abnormal pericardium morphology,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0001903,Anemia,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0001974,Leukocytosis,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0002094,Dyspnea,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0002105,Hemoptysis,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0002202,Pleural effusion,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0002563,Constrictive pericarditis,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0002579,Gastrointestinal dysmotility,Occasional (29-5%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0002625,Deep venous thrombosis,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0002910,Elevated hepatic transaminase,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0003073,Hypoalbuminemia,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0003155,Elevated circulating alkaline phosphatase concentration,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0004385,Protracted diarrhea,Occasional (29-5%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0005214,Intestinal obstruction,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0011919,Pleural empyema,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0012735,Cough,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0025044,Lung abscess,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0025085,Bloody diarrhea,Occasional (29-5%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0032016,Abnormal sputum,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0100282,Acute colitis,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0100523,Liver abscess,Very rare (<4-1%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018675,Orphanet,67,ORPHA:67,27,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:25101557, PMID:30255429, PMID:30631758, PMID:9504344]",y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0000554,Uveitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0001367,Abnormal joint morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0001803,Nail pits,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0002103,Abnormal pleura morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0003765,Psoriasiform dermatitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0005595,Generalized hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0100721,Mediastinal lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0100773,Cartilage destruction,Frequent (79-30%),TAS,,,,,y,y +GARD:0018677,Orphanet,92,ORPHA:92,25,HP:0100781,Abnormal sacroiliac joint morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018678,Orphanet,105,ORPHA:105,14,HP:0000010,Recurrent urinary tract infections,Frequent (79-30%),TAS,,,,"[PMID:19551712, PMID:29980359, PMID:32978001, PMID:8149156]",y,y +GARD:0018678,Orphanet,105,ORPHA:105,14,HP:0000021,Megacystis,Frequent (79-30%),TAS,,,,"[PMID:19551712, PMID:29980359, PMID:32978001, PMID:8149156]",y,y +GARD:0018678,Orphanet,105,ORPHA:105,14,HP:0000072,Hydroureter,Frequent (79-30%),TAS,,,,"[PMID:19551712, PMID:29980359, PMID:32978001, PMID:8149156]",y,y +GARD:0018678,Orphanet,105,ORPHA:105,14,HP:0000076,Vesicoureteral reflux,Very frequent (99-80%),TAS,,,,"[PMID:19551712, PMID:29980359, PMID:32978001, PMID:8149156]",y,y +GARD:0018678,Orphanet,105,ORPHA:105,14,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:19551712, PMID:29980359, PMID:32978001, PMID:8149156]",y,y +GARD:0018678,Orphanet,105,ORPHA:105,14,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:19551712, PMID:29980359, PMID:32978001, PMID:8149156]",y,y +GARD:0018678,Orphanet,105,ORPHA:105,14,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,"[PMID:19551712, PMID:29980359, PMID:32978001, PMID:8149156]",y,y +GARD:0018678,Orphanet,105,ORPHA:105,14,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:19551712, PMID:29980359, PMID:32978001, PMID:8149156]",y,y +GARD:0018678,Orphanet,105,ORPHA:105,14,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,"[PMID:19551712, PMID:29980359, PMID:32978001, PMID:8149156]",y,y +GARD:0018678,Orphanet,105,ORPHA:105,14,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:19551712, PMID:29980359, PMID:32978001, PMID:8149156]",y,y +GARD:0018678,Orphanet,105,ORPHA:105,14,HP:0004321,Bladder fistula,Frequent (79-30%),TAS,,,,"[PMID:19551712, PMID:29980359, PMID:32978001, PMID:8149156]",y,y +GARD:0018678,Orphanet,105,ORPHA:105,14,HP:0010444,Pulmonary insufficiency,Occasional (29-5%),TAS,,,,"[PMID:19551712, PMID:29980359, PMID:32978001, PMID:8149156]",y,y +GARD:0018678,Orphanet,105,ORPHA:105,14,HP:0010479,Patent urachus,Frequent (79-30%),TAS,,,,"[PMID:19551712, PMID:29980359, PMID:32978001, PMID:8149156]",y,y +GARD:0018678,Orphanet,105,ORPHA:105,14,HP:0010955,Dilatation of the bladder,Frequent (79-30%),TAS,,,,"[PMID:19551712, PMID:29980359, PMID:32978001, PMID:8149156]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0000119,Abnormality of the genitourinary system,Very rare (<4-1%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0000925,Abnormality of the vertebral column,Very rare (<4-1%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0001651,Dextrocardia,Frequent (79-30%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0001660,Truncus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0001680,Coarctation of aorta,Frequent (79-30%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0001719,Double outlet right ventricle,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0001750,Single ventricle,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0002088,Abnormal lung morphology,Frequent (79-30%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0002107,Pneumothorax,Very rare (<4-1%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0004383,Hypoplastic left heart,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0004971,Pulmonary artery hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0005345,Abnormal vena cava morphology,Frequent (79-30%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0010772,Anomalous pulmonary venous return,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0010773,Partial anomalous pulmonary venous return,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0011560,Mitral atresia,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0011638,Anomalous origin of left coronary artery from the pulmonary artery,Very rare (<4-1%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0011662,Tricuspid atresia,Very rare (<4-1%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0011670,Left superior vena cava draining to coronary sinus,Very rare (<4-1%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0011671,Interrupted inferior vena cava with azygous continuation,Very rare (<4-1%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0012382,Left-to-right shunt,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0012722,Heart block,Very rare (<4-1%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0025495,Descending aorta hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0040044,Hypoplasia of the diaphragm,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0040045,Abnormal hemidiaphragm morphology,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0100632,Pulmonary sequestration,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0100730,Bronchogenic cyst,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018680,Orphanet,185,ORPHA:185,39,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,"[PMID:28674724, PMID:29054305, PMID:29398566]",y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0000615,Abnormal pupil morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0000960,Sacral dimple,Frequent (79-30%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0001800,Hypoplastic toenails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0001804,Hypoplastic fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0005105,Abnormal nasal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0011079,Impacted tooth,Frequent (79-30%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0100335,Non-midline cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0018683,Orphanet,236,ORPHA:236,27,HP:0100798,Fingernail dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018686,Orphanet,262,ORPHA:262,13,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,,y,y +GARD:0018686,Orphanet,262,ORPHA:262,13,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018686,Orphanet,262,ORPHA:262,13,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0018686,Orphanet,262,ORPHA:262,13,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0018686,Orphanet,262,ORPHA:262,13,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,,y,y +GARD:0018686,Orphanet,262,ORPHA:262,13,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018686,Orphanet,262,ORPHA:262,13,HP:0003100,Slender long bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0018686,Orphanet,262,ORPHA:262,13,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018686,Orphanet,262,ORPHA:262,13,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018686,Orphanet,262,ORPHA:262,13,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018686,Orphanet,262,ORPHA:262,13,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018686,Orphanet,262,ORPHA:262,13,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018686,Orphanet,262,ORPHA:262,13,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,,y,y +GARD:0018687,Orphanet,293,ORPHA:293,4,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0018687,Orphanet,293,ORPHA:293,4,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0018687,Orphanet,293,ORPHA:293,4,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0018687,Orphanet,293,ORPHA:293,4,HP:0002324,Hydranencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0000099,Glomerulonephritis,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0000421,Epistaxis,Very rare (<4-1%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0000822,Hypertension,Very rare (<4-1%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0000967,Petechiae,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0001262,Excessive daytime somnolence,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0001919,Acute kidney injury,Very frequent (99-80%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0001970,Tubulointerstitial nephritis,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002153,Hyperkalemia,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002170,Intracranial hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002248,Hematemesis,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002249,Melena,Very rare (<4-1%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002878,Respiratory failure,Very rare (<4-1%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002905,Hyperphosphatemia,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0003259,Elevated circulating creatinine concentration,Very frequent (99-80%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0003418,Back pain,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0004729,Acute tubulointerstitial nephritis,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0011029,Internal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0011037,Decreased urine output,Very frequent (99-80%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0011896,Subconjunctival hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0012213,Decreased glomerular filtration rate,Very frequent (99-80%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0012622,Chronic kidney disease,Very rare (<4-1%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0025143,Chills,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0030005,Capillary leak,Very frequent (99-80%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0030783,Increased circulating interleukin 6 concentration,Frequent (79-30%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0031273,Shock,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0031364,Ecchymosis,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0032169,Severe infection,Very frequent (99-80%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0100519,Anuria,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0100520,Oliguria,Very frequent (99-80%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0100598,Pulmonary edema,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018689,Orphanet,340,ORPHA:340,60,HP:0100785,Insomnia,Occasional (29-5%),TAS,,,,"[PMID:24750436, PMID:26870699, PMID:32809495]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0000750,Delayed speech and language development,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0000858,Irregular menstruation,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0000876,Oligomenorrhea,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0001394,Cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0001395,Hepatic fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0001396,Cholestasis,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0001402,Hepatocellular carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0001638,Cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0001744,Splenomegaly,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0001946,Ketosis,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0001947,Renal tubular acidosis,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0002040,Esophageal varix,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0002913,Myoglobinuria,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0003124,Hypercholesterolemia,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0003162,Fasting hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0003201,Rhabdomyolysis,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0003323,Progressive muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0003325,Limb-girdle muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0003546,Exercise intolerance,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0005144,Ventricular septal hypertrophy,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0006580,Portal fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0012028,Hepatocellular adenoma,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0030232,Increased sarcoplasmic glycogen,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0030272,Abnormal erythrocyte enzyme level,Very frequent (99-80%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018691,Orphanet,370,ORPHA:370,47,HP:0100607,Dysmenorrhea,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:30659246]",y,y +GARD:0018693,Orphanet,493,ORPHA:493,7,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018693,Orphanet,493,ORPHA:493,7,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018693,Orphanet,493,ORPHA:493,7,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0018693,Orphanet,493,ORPHA:493,7,HP:0009720,Adenoma sebaceum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018693,Orphanet,493,ORPHA:493,7,HP:0012740,Papilloma,Frequent (79-30%),TAS,,,,,y,y +GARD:0018693,Orphanet,493,ORPHA:493,7,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018693,Orphanet,493,ORPHA:493,7,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0000142,Abnormal vagina morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0000621,Entropion,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0000795,Abnormality of the urethra,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0001637,Abnormal myocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0001875,Neutropenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0001959,Polydipsia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0002103,Abnormal pleura morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0003781,Excessive salivation,Frequent (79-30%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0006554,Acute hepatic failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0031368,Intestinal perforation,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0100518,Dysuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0100792,Acantholysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0100806,Sepsis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0200020,Corneal erosion,Occasional (29-5%),TAS,,,,,y,y +GARD:0018696,Orphanet,537,ORPHA:537,39,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0018700,Orphanet,617,ORPHA:617,10,HP:0000010,Recurrent urinary tract infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0018700,Orphanet,617,ORPHA:617,10,HP:0000036,Abnormal penis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0018700,Orphanet,617,ORPHA:617,10,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0018700,Orphanet,617,ORPHA:617,10,HP:0000126,Hydronephrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018700,Orphanet,617,ORPHA:617,10,HP:0000787,Nephrolithiasis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018700,Orphanet,617,ORPHA:617,10,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0018700,Orphanet,617,ORPHA:617,10,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0018700,Orphanet,617,ORPHA:617,10,HP:0002907,Microscopic hematuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0018700,Orphanet,617,ORPHA:617,10,HP:0008676,Congenital megaureter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018700,Orphanet,617,ORPHA:617,10,HP:0010935,Abnormality of the upper urinary tract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0000206,Glossitis,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0001287,Meningitis,Very rare (<4-1%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0001324,Muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0001369,Arthritis,Very rare (<4-1%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0002037,Inflammation of the large intestine,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0002248,Hematemesis,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0002317,Unsteady gait,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0002840,Lymphadenitis,Very frequent (99-80%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0004372,Reduced consciousness/confusion,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0004387,Enterocolitis,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0009811,Abnormality of the elbow,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0011355,Localized skin lesion,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0011499,Mydriasis,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0011949,Acute infectious pneumonia,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0012219,Erythema nodosum,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0025043,Enlarged mesenteric lymph node,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0025085,Bloody diarrhea,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0025143,Chills,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0025439,Pharyngitis,Very rare (<4-1%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0030953,Conjunctival hyperemia,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0031258,Delirium,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0031864,Bacteremia,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0040181,Chapped lip,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0100533,Inflammatory abnormality of the eye,Very rare (<4-1%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0100584,Endocarditis,Very rare (<4-1%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018702,Orphanet,707,ORPHA:707,53,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,"[PMID:26004640, PMID:27722868, PMID:29070654, PMID:29628173]",y,y +GARD:0018703,Orphanet,720,ORPHA:720,2,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018703,Orphanet,720,ORPHA:720,2,HP:0010719,Abnormality of hair texture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0000491,Keratitis,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0000763,Sensory neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0001708,Right ventricular failure,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002059,Cerebral atrophy,Very rare (<4-1%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002176,Spinal cord compression,Very rare (<4-1%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002244,Abnormality of the small intestine,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002250,Abnormal large intestine morphology,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002326,Transient ischemic attack,Very rare (<4-1%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002577,Abnormal stomach morphology,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002584,Intestinal bleeding,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002604,Gastrointestinal telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0003493,Antinuclear antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0005590,Spotty hypopigmentation,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0006121,Acral ulceration,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0006261,Abnormal phalangeal joint morphology of the hand,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0007141,Sensorimotor neuropathy,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0007256,Abnormal pyramidal sign,Very rare (<4-1%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0007400,Irregular hyperpigmentation,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0009771,Osteolytic defects of the phalanges of the hand,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0010628,Facial palsy,Very rare (<4-1%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0011799,Abnormality of facial soft tissue,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0011838,Sclerodactyly,Frequent (79-30%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0012185,Constrictive median neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0012486,Myelitis,Very rare (<4-1%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0012622,Chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0025131,Finger swelling,Frequent (79-30%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0025520,Calcinosis cutis,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0025533,Peau d'orange,Very rare (<4-1%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0030859,Anti-topoisomerase I antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0030873,Anti-centromere antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0030880,Raynaud phenomenon,Very frequent (99-80%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0030890,Hyperintensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0031293,Digital pitting scar,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0031329,Interstitial cardiac fibrosis,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0031359,Cutaneous sclerotic plaque,Very frequent (99-80%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0032018,Multiple mononeuropathy,Very rare (<4-1%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0032061,Hypereosinophilia,Very rare (<4-1%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0045054,Brachial plexus neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0100534,Episcleritis,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0100537,Fasciitis,Very rare (<4-1%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0100580,Barrett esophagus,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0100661,Trigeminal neuralgia,Occasional (29-5%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018705,Orphanet,801,ORPHA:801,75,HP:0100758,Gangrene,Very rare (<4-1%),TAS,,,,"[PMID:23827688, PMID:26577237, PMID:28792092, PMID:32147386]",y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0001531,Failure to thrive in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0012733,Macule,Occasional (29-5%),TAS,,,,,y,y +GARD:0018708,Orphanet,858,ORPHA:858,26,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0001660,Truncus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0002092,Pulmonary arterial hypertension,Frequent (79-30%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0002110,Bronchiectasis,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0003115,Abnormal EKG,Frequent (79-30%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0004749,Atrial flutter,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0005110,Atrial fibrillation,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0006532,Recurrent pneumonia,Frequent (79-30%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0006704,Abnormal coronary artery morphology,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0012020,Right aortic arch,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0012417,Hypocapnia,Frequent (79-30%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0012664,Reduced ejection fraction,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0012764,Orthopnea,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0025576,Abnormal inferior vena cava morphology,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0031246,Nonproductive cough,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0031664,Systolic heart murmur,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0031983,Abnormal pulmonary thoracic imaging finding,Frequent (79-30%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0040045,Abnormal hemidiaphragm morphology,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0100598,Pulmonary edema,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018712,Orphanet,980,ORPHA:980,37,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:23938302, PMID:29463283, PMID:31228825]",y,y +GARD:0018713,Orphanet,1006,ORPHA:1006,11,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0018713,Orphanet,1006,ORPHA:1006,11,HP:0000499,Abnormal eyelash morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018713,Orphanet,1006,ORPHA:1006,11,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0018713,Orphanet,1006,ORPHA:1006,11,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018713,Orphanet,1006,ORPHA:1006,11,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018713,Orphanet,1006,ORPHA:1006,11,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018713,Orphanet,1006,ORPHA:1006,11,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018713,Orphanet,1006,ORPHA:1006,11,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0018713,Orphanet,1006,ORPHA:1006,11,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018713,Orphanet,1006,ORPHA:1006,11,HP:0011073,Abnormality of dental color,Occasional (29-5%),TAS,,,,,y,y +GARD:0018713,Orphanet,1006,ORPHA:1006,11,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0001302,Pachygyria,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0002282,Gray matter heterotopia,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0002521,Hypsarrhythmia,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0011201,EEG with changes in voltage,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0012469,Infantile spasms,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0020219,Motor seizure,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0031882,Agyria,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018715,Orphanet,1084,ORPHA:1084,17,HP:0100952,Enlarged sylvian cistern,Frequent (79-30%),TAS,,,,"[PMID:18809027, PMID:19302951]",y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0000590,Progressive external ophthalmoplegia,Frequent (79-30%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0000597,Ophthalmoparesis,Frequent (79-30%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0001012,Multiple lipomas,Occasional (29-5%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0001298,Encephalopathy,Frequent (79-30%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0001350,Slurred speech,Very frequent (99-80%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0001639,Hypertrophic cardiomyopathy,Very frequent (99-80%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0001644,Dilated cardiomyopathy,Frequent (79-30%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0003200,Ragged-red muscle fibers,Frequent (79-30%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0003542,Increased serum pyruvate,Frequent (79-30%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0009126,Increased adipose tissue,Occasional (29-5%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0011342,Mild global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0012514,Lower limb pain,Frequent (79-30%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,[PMID:8651277],y,y +GARD:0018719,Orphanet,1349,ORPHA:1349,30,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,[PMID:8651277],y,y +GARD:0018720,Orphanet,1398,ORPHA:1398,10,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018720,Orphanet,1398,ORPHA:1398,10,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018720,Orphanet,1398,ORPHA:1398,10,HP:0000496,Abnormality of eye movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018720,Orphanet,1398,ORPHA:1398,10,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0018720,Orphanet,1398,ORPHA:1398,10,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0018720,Orphanet,1398,ORPHA:1398,10,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018720,Orphanet,1398,ORPHA:1398,10,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018720,Orphanet,1398,ORPHA:1398,10,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018720,Orphanet,1398,ORPHA:1398,10,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0018720,Orphanet,1398,ORPHA:1398,10,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0018722,Orphanet,1455,ORPHA:1455,5,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0018722,Orphanet,1455,ORPHA:1455,5,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0018722,Orphanet,1455,ORPHA:1455,5,HP:0004383,Hypoplastic left heart,Frequent (79-30%),TAS,,,,,y,y +GARD:0018722,Orphanet,1455,ORPHA:1455,5,HP:0005113,Aortic arch aneurysm,Frequent (79-30%),TAS,,,,,y,y +GARD:0018722,Orphanet,1455,ORPHA:1455,5,HP:0012303,Abnormal aortic arch morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018724,Orphanet,1461,ORPHA:1461,13,HP:0000765,Abnormal thorax morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0018724,Orphanet,1461,ORPHA:1461,13,HP:0000961,Cyanosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018724,Orphanet,1461,ORPHA:1461,13,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0018724,Orphanet,1461,ORPHA:1461,13,HP:0001633,Abnormal mitral valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018724,Orphanet,1461,ORPHA:1461,13,HP:0001642,Pulmonic stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018724,Orphanet,1461,ORPHA:1461,13,HP:0001669,Transposition of the great arteries,Frequent (79-30%),TAS,,,,,y,y +GARD:0018724,Orphanet,1461,ORPHA:1461,13,HP:0001718,Mitral stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018724,Orphanet,1461,ORPHA:1461,13,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,,y,y +GARD:0018724,Orphanet,1461,ORPHA:1461,13,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0018724,Orphanet,1461,ORPHA:1461,13,HP:0004381,Supravalvular aortic stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018724,Orphanet,1461,ORPHA:1461,13,HP:0010446,Tricuspid stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018724,Orphanet,1461,ORPHA:1461,13,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,,y,y +GARD:0018724,Orphanet,1461,ORPHA:1461,13,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000047,Hypospadias,Very rare (<4-1%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000090,Nephronophthisis,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000113,Polycystic kidney dysplasia,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000476,Cystic hygroma,Very rare (<4-1%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000488,Retinopathy,Very rare (<4-1%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000773,Short ribs,Very frequent (99-80%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000882,Hypoplastic scapulae,Very rare (<4-1%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000888,Horizontal ribs,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000946,Hypoplastic ilia,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0001159,Syndactyly,Very rare (<4-1%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0001395,Hepatic fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0001407,Hepatic cysts,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0001538,Protuberant abdomen,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0001669,Transposition of the great arteries,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0001696,Situs inversus totalis,Very rare (<4-1%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0002006,Facial cleft,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0002060,Abnormal cerebral morphology,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0002566,Intestinal malrotation,Very rare (<4-1%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0002589,Gastrointestinal atresia,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0002693,Abnormality of the skull base,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0002867,Abnormal ilium morphology,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0002983,Micromelia,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0003016,Metaphyseal widening,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0003026,Short long bone,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0003180,Flat acetabular roof,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0004349,Reduced bone mineral density,Very rare (<4-1%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0004599,Absent or minimally ossified vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0005054,Metaphyseal spurs,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0005257,Thoracic hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0005469,Flat occiput,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0005483,Abnormal epiglottis morphology,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0005736,Short tibia,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0005766,Disproportionate shortening of the tibia,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0006487,Bowing of the long bones,Very rare (<4-1%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0008873,Disproportionate short-limb short stature,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0009106,Abnormal pelvis bone ossification,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0009381,Short finger,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0009826,Limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0010442,Polydactyly,Very frequent (99-80%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0010454,Acetabular spurs,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0010579,Cone-shaped epiphysis,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0010660,Abnormal hand bone ossification,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0010675,Abnormal foot bone ossification,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0010766,Ectopic calcification,Very rare (<4-1%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0010880,Increased nuchal translucency,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0011314,Abnormality of long bone morphology,Frequent (79-30%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0011849,Abnormal bone ossification,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0025423,Abnormal larynx morphology,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0040163,Abnormal pelvis bone morphology,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0100611,Multiple glomerular cysts,Very rare (<4-1%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0100779,Urogenital sinus anomaly,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018726,Orphanet,1505,ORPHA:1505,67,HP:0410030,Cleft lip,Occasional (29-5%),TAS,,,,"[PMID:23259870, PMID:25506500, PMID:29068549, PMID:31965514]",y,y +GARD:0018727,Orphanet,1506,ORPHA:1506,8,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018727,Orphanet,1506,ORPHA:1506,8,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018727,Orphanet,1506,ORPHA:1506,8,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0018727,Orphanet,1506,ORPHA:1506,8,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018727,Orphanet,1506,ORPHA:1506,8,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018727,Orphanet,1506,ORPHA:1506,8,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018727,Orphanet,1506,ORPHA:1506,8,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018727,Orphanet,1506,ORPHA:1506,8,HP:0003100,Slender long bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0004422,Biparietal narrowing,Occasional (29-5%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0010557,Overlapping fingers,Occasional (29-5%),TAS,,,,,y,y +GARD:0018729,Orphanet,1581,ORPHA:1581,15,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0001360,Holoprosencephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0002648,Abnormality of calvarial morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0006889,"Intellectual disability, borderline",Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0009773,Symphalangism affecting the phalanges of the hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0100729,Large face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018731,Orphanet,1636,ORPHA:1636,30,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0000059,Hypoplastic labia majora,Frequent (79-30%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0000243,Trigonocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0009906,Aplasia/Hypoplasia of the earlobes,Frequent (79-30%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0011039,Abnormal helix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0100625,Enlarged thorax,Frequent (79-30%),TAS,,,,,y,y +GARD:0018732,Orphanet,1642,ORPHA:1642,27,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018733,Orphanet,1643,ORPHA:1643,12,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0018733,Orphanet,1643,ORPHA:1643,12,HP:0000144,Decreased fertility,Frequent (79-30%),TAS,,,,,y,y +GARD:0018733,Orphanet,1643,ORPHA:1643,12,HP:0000147,Polycystic ovaries,Frequent (79-30%),TAS,,,,,y,y +GARD:0018733,Orphanet,1643,ORPHA:1643,12,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018733,Orphanet,1643,ORPHA:1643,12,HP:0000869,Secondary amenorrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018733,Orphanet,1643,ORPHA:1643,12,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0018733,Orphanet,1643,ORPHA:1643,12,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018733,Orphanet,1643,ORPHA:1643,12,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018733,Orphanet,1643,ORPHA:1643,12,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0018733,Orphanet,1643,ORPHA:1643,12,HP:0007759,Opacification of the corneal stroma,Frequent (79-30%),TAS,,,,,y,y +GARD:0018733,Orphanet,1643,ORPHA:1643,12,HP:0008056,Aplasia/Hypoplasia affecting the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0018733,Orphanet,1643,ORPHA:1643,12,HP:0008065,Aplasia/Hypoplasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0018734,Orphanet,1665,ORPHA:1665,10,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018734,Orphanet,1665,ORPHA:1665,10,HP:0000269,Prominent occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018734,Orphanet,1665,ORPHA:1665,10,HP:0000834,Abnormality of the adrenal glands,Occasional (29-5%),TAS,,,,,y,y +GARD:0018734,Orphanet,1665,ORPHA:1665,10,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018734,Orphanet,1665,ORPHA:1665,10,HP:0001357,Plagiocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018734,Orphanet,1665,ORPHA:1665,10,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018734,Orphanet,1665,ORPHA:1665,10,HP:0006887,"Intellectual disability, progressive",Very frequent (99-80%),TAS,,,,,y,y +GARD:0018734,Orphanet,1665,ORPHA:1665,10,HP:0010515,Aplasia/Hypoplasia of the thymus,Occasional (29-5%),TAS,,,,,y,y +GARD:0018734,Orphanet,1665,ORPHA:1665,10,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0018734,Orphanet,1665,ORPHA:1665,10,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0001279,Syncope,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0001667,Right ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0001678,Atrioventricular block,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0004757,Paroxysmal atrial fibrillation,Occasional (29-5%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0005110,Atrial fibrillation,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0005178,Complete heart block with narrow QRS complexes,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0005180,Tricuspid regurgitation,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0005345,Abnormal vena cava morphology,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0006707,Abnormality of the hepatic vasculature,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0011995,Atrial septal dilatation,Very frequent (99-80%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0012398,Peripheral edema,Occasional (29-5%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0012664,Reduced ejection fraction,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0030718,Right atrial enlargement,Very frequent (99-80%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0030872,Abnormal cardiac ventricular function,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0031665,Midsystolic murmur,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:0031667,Holosystolic murmur,Frequent (79-30%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018735,Orphanet,1677,ORPHA:1677,24,HP:3000042,Abnormal jugular vein morphology,Occasional (29-5%),TAS,,,,"[PMID:11326142, PMID:30546704]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000179,Thick lower lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000188,Short upper lip,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000237,Small anterior fontanelle,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000308,Microretrognathia,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000803,Renal cortical cysts,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001032,Absent distal interphalangeal creases,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001188,Hand clenching,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001195,Single umbilical artery,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001233,2-3 finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001792,Small nail,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001837,Broad toe,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0001838,Rocker bottom foot,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0002280,Enlarged cisterna magna,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0002943,Thoracic scoliosis,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0003244,Penile hypospadias,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0004935,Pulmonary artery atresia,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0007291,Posterior fossa cyst,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0007759,Opacification of the corneal stroma,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0007911,Congenital bilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0009943,Complete duplication of thumb phalanx,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0010344,Deviation of the 5th toe,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0010511,Long toe,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0010880,Increased nuchal translucency,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0012553,Hypoplastic thumbnail,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0040019,Finger clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0045086,Knee joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0100040,Broad 2nd toe,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018736,Orphanet,1692,ORPHA:1692,60,HP:0100839,Hepatic agenesis,Occasional (29-5%),TAS,,,,"[PMID:21145991, PMID:23933412, PMID:28437579]",y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0008056,Aplasia/Hypoplasia affecting the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0018737,Orphanet,1695,ORPHA:1695,24,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0000243,Trigonocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0000499,Abnormal eyelash morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0001028,Hemangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0009906,Aplasia/Hypoplasia of the earlobes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018738,Orphanet,1702,ORPHA:1702,27,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018739,Orphanet,1705,ORPHA:1705,10,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0018739,Orphanet,1705,ORPHA:1705,10,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0018739,Orphanet,1705,ORPHA:1705,10,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0018739,Orphanet,1705,ORPHA:1705,10,HP:0001679,Abnormal aortic morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018739,Orphanet,1705,ORPHA:1705,10,HP:0002101,Abnormal lung lobation,Frequent (79-30%),TAS,,,,,y,y +GARD:0018739,Orphanet,1705,ORPHA:1705,10,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018739,Orphanet,1705,ORPHA:1705,10,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018739,Orphanet,1705,ORPHA:1705,10,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0018739,Orphanet,1705,ORPHA:1705,10,HP:0010935,Abnormality of the upper urinary tract,Frequent (79-30%),TAS,,,,,y,y +GARD:0018739,Orphanet,1705,ORPHA:1705,10,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000055,Abnormality of female external genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000383,Abnormality of periauricular region,Occasional (29-5%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0005988,Congenital muscular torticollis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018740,Orphanet,1707,ORPHA:1707,29,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0000154,Wide mouth,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0000366,Abnormality of the nose,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0000765,Abnormal thorax morphology,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0000954,Single transverse palmar crease,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0001159,Syndactyly,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0001195,Single umbilical artery,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0001545,Anteriorly placed anus,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0001680,Coarctation of aorta,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0002011,Morphological central nervous system abnormality,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0002088,Abnormal lung morphology,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0002245,Meckel diverticulum,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0003319,Abnormality of the cervical spine,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0004484,Craniofacial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0005587,Profuse pigmented skin lesions,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0005773,Short forearm,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0006267,Large placenta,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0009778,Short thumb,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0011470,Nasogastric tube feeding in infancy,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0011640,Single coronary artery origin,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0012372,Abnormal eye morphology,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0031703,Abnormal ear morphology,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0100555,Asymmetric growth,Occasional (29-5%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0100602,Preeclampsia,Frequent (79-30%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018741,Orphanet,1708,ORPHA:1708,43,HP:0100864,Short femoral neck,Very rare (<4-1%),TAS,,,,"[PMID:12624135, PMID:28383546, PMID:9880211]",y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000055,Abnormality of female external genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000474,Thickened nuchal skin fold,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0004097,Deviation of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0004622,Progressive intervertebral space narrowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0010720,Abnormal hair pattern,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0018742,Orphanet,1716,ORPHA:1716,31,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0000472,Long neck,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0002143,Abnormality of the spinal cord,Frequent (79-30%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0002948,Vertebral fusion,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0002949,Fused cervical vertebrae,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0003416,Spinal canal stenosis,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0004484,Craniofacial asymmetry,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0006394,Limited pronation/supination of forearm,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0007483,Depigmentation/hyperpigmentation of skin,Frequent (79-30%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0007535,Hypopigmented streaks,Frequent (79-30%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0011342,Mild global developmental delay,Frequent (79-30%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0012450,Chronic constipation,Frequent (79-30%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0030732,Dysplastic tricuspid valve,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0200021,Down-sloping shoulders,Frequent (79-30%),TAS,,,,[PMID:18203170],y,y +GARD:0018744,Orphanet,1724,ORPHA:1724,39,HP:0410030,Cleft lip,Occasional (29-5%),TAS,,,,[PMID:18203170],y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000089,Renal hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000307,Pointed chin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000499,Abnormal eyelash morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0000960,Sacral dimple,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0009896,Abnormal antitragus morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0009906,Aplasia/Hypoplasia of the earlobes,Frequent (79-30%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0011362,Abnormal hair quantity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018745,Orphanet,1745,ORPHA:1745,33,HP:0100818,Long thorax,Frequent (79-30%),TAS,,,,,y,y +GARD:0018746,Orphanet,1757,ORPHA:1757,3,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,,y,y +GARD:0018746,Orphanet,1757,ORPHA:1757,3,HP:0009556,Absent tibia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018746,Orphanet,1757,ORPHA:1757,3,HP:0030736,Sacrococcygeal teratoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000027,Azoospermia,Frequent (79-30%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000033,"Ambiguous genitalia, male",Frequent (79-30%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000039,Epispadias,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000041,Chordee,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000045,Abnormality of the scrotum,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000061,"Ambiguous genitalia, female",Frequent (79-30%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000150,Gonadoblastoma,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000808,Penoscrotal hypospadias,Frequent (79-30%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000812,Abnormal internal genitalia,Frequent (79-30%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0000837,Increased circulating gonadotropin level,Frequent (79-30%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0001087,Developmental glaucoma,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0002164,Nail dysplasia,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0002442,Dyscalculia,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0002967,Cubitus valgus,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0003251,Male infertility,Frequent (79-30%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0008689,Bilateral cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0008968,Muscle hypertrophy of the lower extremities,Very frequent (99-80%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0010044,Short 4th metacarpal,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0010464,Streak ovary,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0010743,Short metatarsal,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0012741,Unilateral cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0012861,Ovotestis,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0012887,Ovarian serous cystadenoma,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0030079,Cervix cancer,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0040171,Decreased serum testosterone concentration,Occasional (29-5%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018747,Orphanet,1772,ORPHA:1772,60,HP:0100779,Urogenital sinus anomaly,Frequent (79-30%),TAS,,,,"[PMID:10429013, PMID:10786990, PMID:16735607, PMID:21508138, PMID:22605431, PMID:23422775, PMID:23457457, PMID:25022812, PMID:25351753, PMID:25860218, PMID:2621740, PMID:3595646, PMID:3631129, PMID:9135271]",y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0000396,Overfolded helix,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0001636,Tetralogy of Fallot,Frequent (79-30%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0001669,Transposition of the great arteries,Occasional (29-5%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0011039,Abnormal helix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018750,Orphanet,1913,ORPHA:1913,26,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0004422,Biparietal narrowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0010669,Hypoplasia of the zygomatic bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0018751,Orphanet,1920,ORPHA:1920,22,HP:0100542,Abnormal localization of kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0002134,Abnormality of the basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0002283,Global brain atrophy,Very rare (<4-1%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0002349,Focal aware seizure,Frequent (79-30%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0002357,Dysphasia,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0002384,Focal impaired awareness seizure,Frequent (79-30%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0002921,Abnormality of the cerebrospinal fluid,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0002922,Increased CSF protein,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0003460,Decreased circulating total IgA,Very rare (<4-1%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0004302,Functional motor deficit,Very frequent (99-80%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0007334,Bilateral tonic-clonic seizure with focal onset,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0007359,Focal-onset seizure,Very frequent (99-80%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0010818,Generalized tonic seizure,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0011097,Epileptic spasm,Very rare (<4-1%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0011153,Focal motor seizure,Frequent (79-30%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0011163,Focal sensory seizure with somatosensory features,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0011182,Interictal epileptiform activity,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0011185,EEG with focal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0011193,EEG with focal spikes,Frequent (79-30%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0011195,EEG with focal sharp slow waves,Frequent (79-30%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0012157,Subcortical cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0012708,Reduced brain N-acetyl aspartate level by MRS,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0012847,Epilepsia partialis continua,Frequent (79-30%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0020151,Anti-dsDNA antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0025190,Bilateral tonic-clonic seizure with generalized onset,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0031491,Continuous spike and waves during slow sleep,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0031535,Increased theta frequency activity in EEG,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0032005,Hemidystonia,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0032046,Focal cortical dysplasia,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0032661,Generalized convulsive status epilepticus,Very rare (<4-1%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0032665,Repeated focal motor seizures,Frequent (79-30%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0100308,Cerebral cortical hemiatrophy,Frequent (79-30%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018752,Orphanet,1929,ORPHA:1929,48,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:28572051, PMID:30530407]",y,y +GARD:0018753,Orphanet,1931,ORPHA:1931,11,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0018753,Orphanet,1931,ORPHA:1931,11,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018753,Orphanet,1931,ORPHA:1931,11,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0018753,Orphanet,1931,ORPHA:1931,11,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0018753,Orphanet,1931,ORPHA:1931,11,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0018753,Orphanet,1931,ORPHA:1931,11,HP:0001362,Calvarial skull defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0018753,Orphanet,1931,ORPHA:1931,11,HP:0002084,Encephalocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018753,Orphanet,1931,ORPHA:1931,11,HP:0002414,Spina bifida,Frequent (79-30%),TAS,,,,,y,y +GARD:0018753,Orphanet,1931,ORPHA:1931,11,HP:0002415,Leukodystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0018753,Orphanet,1931,ORPHA:1931,11,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0018753,Orphanet,1931,ORPHA:1931,11,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0018754,Orphanet,1991,ORPHA:1991,10,HP:0000161,Median cleft lip,Excluded (0%),TAS,,,,"[PMID:19697430, PMID:23968774, PMID:24590292, PMID:26347387]",y,y +GARD:0018754,Orphanet,1991,ORPHA:1991,10,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:19697430, PMID:23968774, PMID:24590292, PMID:26347387]",y,y +GARD:0018754,Orphanet,1991,ORPHA:1991,10,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,"[PMID:19697430, PMID:23968774, PMID:24590292, PMID:26347387]",y,y +GARD:0018754,Orphanet,1991,ORPHA:1991,10,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:19697430, PMID:23968774, PMID:24590292, PMID:26347387]",y,y +GARD:0018754,Orphanet,1991,ORPHA:1991,10,HP:0008501,Median cleft lip and palate,Excluded (0%),TAS,,,,"[PMID:19697430, PMID:23968774, PMID:24590292, PMID:26347387]",y,y +GARD:0018754,Orphanet,1991,ORPHA:1991,10,HP:0011109,Chronic sinusitis,Frequent (79-30%),TAS,,,,"[PMID:19697430, PMID:23968774, PMID:24590292, PMID:26347387]",y,y +GARD:0018754,Orphanet,1991,ORPHA:1991,10,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:19697430, PMID:23968774, PMID:24590292, PMID:26347387]",y,y +GARD:0018754,Orphanet,1991,ORPHA:1991,10,HP:0100335,Non-midline cleft lip,Obligate (100%),TAS,,,,"[PMID:19697430, PMID:23968774, PMID:24590292, PMID:26347387]",y,y +GARD:0018754,Orphanet,1991,ORPHA:1991,10,HP:0100338,Non-midline cleft palate,Frequent (79-30%),TAS,,,,"[PMID:19697430, PMID:23968774, PMID:24590292, PMID:26347387]",y,y +GARD:0018754,Orphanet,1991,ORPHA:1991,10,HP:0410031,Submucous cleft of soft and hard palate,Frequent (79-30%),TAS,,,,"[PMID:19697430, PMID:23968774, PMID:24590292, PMID:26347387]",y,y +GARD:0018755,Orphanet,2003,ORPHA:2003,13,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018755,Orphanet,2003,ORPHA:2003,13,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018755,Orphanet,2003,ORPHA:2003,13,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018755,Orphanet,2003,ORPHA:2003,13,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018755,Orphanet,2003,ORPHA:2003,13,HP:0002435,Meningocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018755,Orphanet,2003,ORPHA:2003,13,HP:0002744,Bilateral cleft lip and palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018755,Orphanet,2003,ORPHA:2003,13,HP:0002827,Hip dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018755,Orphanet,2003,ORPHA:2003,13,HP:0005273,Absent nasal septal cartilage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018755,Orphanet,2003,ORPHA:2003,13,HP:0008625,Severe sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018755,Orphanet,2003,ORPHA:2003,13,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018755,Orphanet,2003,ORPHA:2003,13,HP:0012033,Sacral lipoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018755,Orphanet,2003,ORPHA:2003,13,HP:0100335,Non-midline cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018755,Orphanet,2003,ORPHA:2003,13,HP:0100559,Lower limb asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0000925,Abnormality of the vertebral column,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0001176,Large hands,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0002011,Morphological central nervous system abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0002937,Hemivertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0003306,Spinal rigidity,Occasional (29-5%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0003363,Abdominal situs inversus,Occasional (29-5%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0005037,Proximal radio-ulnar synostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0005108,Abnormal intervertebral disk morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018759,Orphanet,2062,ORPHA:2062,27,HP:0100777,Exostoses,Occasional (29-5%),TAS,,,,,y,y +GARD:0018760,Orphanet,2104,ORPHA:2104,11,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018760,Orphanet,2104,ORPHA:2104,11,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018760,Orphanet,2104,ORPHA:2104,11,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018760,Orphanet,2104,ORPHA:2104,11,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018760,Orphanet,2104,ORPHA:2104,11,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018760,Orphanet,2104,ORPHA:2104,11,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018760,Orphanet,2104,ORPHA:2104,11,HP:0002002,Deep philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018760,Orphanet,2104,ORPHA:2104,11,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018760,Orphanet,2104,ORPHA:2104,11,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018760,Orphanet,2104,ORPHA:2104,11,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018760,Orphanet,2104,ORPHA:2104,11,HP:0010804,Tented upper lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0000262,Turricephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0000795,Abnormality of the urethra,Frequent (79-30%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0006703,Aplasia/Hypoplasia of the lungs,Frequent (79-30%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0009738,Abnormal antihelix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0010935,Abnormality of the upper urinary tract,Frequent (79-30%),TAS,,,,,y,y +GARD:0018762,Orphanet,2145,ORPHA:2145,24,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018763,Orphanet,2266,ORPHA:2266,4,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:8652088],y,y +GARD:0018763,Orphanet,2266,ORPHA:2266,4,HP:0006088,1-5 finger complete cutaneous syndactyly,Frequent (79-30%),TAS,,,,[PMID:8652088],y,y +GARD:0018763,Orphanet,2266,ORPHA:2266,4,HP:0006288,Advanced eruption of teeth,Frequent (79-30%),TAS,,,,[PMID:8652088],y,y +GARD:0018763,Orphanet,2266,ORPHA:2266,4,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,[PMID:8652088],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000037,Male pseudohermaphroditism,Occasional (29-5%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000049,Shawl scrotum,Occasional (29-5%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000185,Cleft soft palate,Occasional (29-5%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0002092,Pulmonary arterial hypertension,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0006801,Hyperactive deep tendon reflexes,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0011819,Submucous cleft soft palate,Occasional (29-5%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018764,Orphanet,2282,ORPHA:2282,30,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,[PMID:3757305],y,y +GARD:0018765,Orphanet,2305,ORPHA:2305,12,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0018765,Orphanet,2305,ORPHA:2305,12,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018765,Orphanet,2305,ORPHA:2305,12,HP:0000356,Abnormality of the outer ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018765,Orphanet,2305,ORPHA:2305,12,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0018765,Orphanet,2305,ORPHA:2305,12,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018765,Orphanet,2305,ORPHA:2305,12,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018765,Orphanet,2305,ORPHA:2305,12,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,,y,y +GARD:0018765,Orphanet,2305,ORPHA:2305,12,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0018765,Orphanet,2305,ORPHA:2305,12,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0018765,Orphanet,2305,ORPHA:2305,12,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0018765,Orphanet,2305,ORPHA:2305,12,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018765,Orphanet,2305,ORPHA:2305,12,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0001083,Ectopia lentis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0001800,Hypoplastic toenails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0003473,Fatigable weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0100797,Toenail dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018766,Orphanet,2325,ORPHA:2325,19,HP:0100798,Fingernail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0000044,Hypogonadotropic hypogonadism,Obligate (100%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0000104,Renal agenesis,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0000200,Short lingual frenulum,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0001644,Dilated cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0001719,Double outlet right ventricle,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0004971,Pulmonary artery hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0005211,Midgut malrotation,Occasional (29-5%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0008689,Bilateral cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0010444,Pulmonary insufficiency,Occasional (29-5%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0010632,Total anosmia,Very frequent (99-80%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0010633,Partial anosmia,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0011638,Anomalous origin of left coronary artery from the pulmonary artery,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0012020,Right aortic arch,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018767,Orphanet,2326,ORPHA:2326,29,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:1423001, PMID:21378379, PMID:25077900, PMID:8322819]",y,y +GARD:0018772,Orphanet,2444,ORPHA:2444,5,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0018772,Orphanet,2444,ORPHA:2444,5,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,,y,y +GARD:0018772,Orphanet,2444,ORPHA:2444,5,HP:0002086,Abnormality of the respiratory system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018772,Orphanet,2444,ORPHA:2444,5,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0018772,Orphanet,2444,ORPHA:2444,5,HP:0002103,Abnormal pleura morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0018773,Orphanet,2487,ORPHA:2487,12,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018773,Orphanet,2487,ORPHA:2487,12,HP:0000069,Abnormality of the ureter,Frequent (79-30%),TAS,,,,,y,y +GARD:0018773,Orphanet,2487,ORPHA:2487,12,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0018773,Orphanet,2487,ORPHA:2487,12,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018773,Orphanet,2487,ORPHA:2487,12,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0018773,Orphanet,2487,ORPHA:2487,12,HP:0000960,Sacral dimple,Frequent (79-30%),TAS,,,,,y,y +GARD:0018773,Orphanet,2487,ORPHA:2487,12,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0018773,Orphanet,2487,ORPHA:2487,12,HP:0001743,Abnormality of the spleen,Frequent (79-30%),TAS,,,,,y,y +GARD:0018773,Orphanet,2487,ORPHA:2487,12,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0018773,Orphanet,2487,ORPHA:2487,12,HP:0002992,Abnormality of tibia morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018773,Orphanet,2487,ORPHA:2487,12,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018773,Orphanet,2487,ORPHA:2487,12,HP:0100559,Lower limb asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0000766,Abnormal sternum morphology,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0000773,Short ribs,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0000851,Congenital hypothyroidism,Very frequent (99-80%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0000885,Broad ribs,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0001631,Atrial septal defect,Very frequent (99-80%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0002092,Pulmonary arterial hypertension,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0002558,Supernumerary nipple,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0005989,Redundant neck skin,Frequent (79-30%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0006934,Congenital nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018774,Orphanet,2519,ORPHA:2519,24,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:2585466, PMID:8320715]",y,y +GARD:0018775,Orphanet,2582,ORPHA:2582,10,HP:0001025,Urticaria,Frequent (79-30%),TAS,,,,,y,y +GARD:0018775,Orphanet,2582,ORPHA:2582,10,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0018775,Orphanet,2582,ORPHA:2582,10,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018775,Orphanet,2582,ORPHA:2582,10,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0018775,Orphanet,2582,ORPHA:2582,10,HP:0001880,Eosinophilia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018775,Orphanet,2582,ORPHA:2582,10,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018775,Orphanet,2582,ORPHA:2582,10,HP:0002103,Abnormal pleura morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018775,Orphanet,2582,ORPHA:2582,10,HP:0003011,Abnormality of the musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018775,Orphanet,2582,ORPHA:2582,10,HP:0005469,Flat occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018775,Orphanet,2582,ORPHA:2582,10,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,,y,y +GARD:0018778,Orphanet,2787,ORPHA:2787,10,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018778,Orphanet,2787,ORPHA:2787,10,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018778,Orphanet,2787,ORPHA:2787,10,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018778,Orphanet,2787,ORPHA:2787,10,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018778,Orphanet,2787,ORPHA:2787,10,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018778,Orphanet,2787,ORPHA:2787,10,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018778,Orphanet,2787,ORPHA:2787,10,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018778,Orphanet,2787,ORPHA:2787,10,HP:0002645,Wormian bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018778,Orphanet,2787,ORPHA:2787,10,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018778,Orphanet,2787,ORPHA:2787,10,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0000766,Abnormal sternum morphology,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0001718,Mitral stenosis,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0002245,Meckel diverticulum,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0009112,Aplasia of the left hemidiaphragm,Obligate (100%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0011635,Partial diaphragmatic absence of pericardium,Obligate (100%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0012718,Morphological abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0100632,Pulmonary sequestration,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018780,Orphanet,2847,ORPHA:2847,20,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:11560864, PMID:14677749, PMID:17377736, PMID:20219701, PMID:20265782, PMID:4003450]",y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000091,Abnormal renal tubule morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000211,Trismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000217,Xerostomia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000225,Gingival bleeding,Frequent (79-30%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000230,Gingivitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000262,Turricephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000656,Ectropion,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000795,Abnormality of the urethra,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000929,Abnormal skull morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000964,Eczema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0000972,Palmoplantar hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0001096,Keratoconjunctivitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0001810,Dystrophic toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0002745,Oral leukoplakia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0002860,Squamous cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0003272,Abnormal hip bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0005916,Abnormal metacarpal morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0006323,Premature loss of primary teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0006740,Transitional cell carcinoma of the bladder,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0007759,Opacification of the corneal stroma,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0008391,Dystrophic fingernails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0010296,Ankyloglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0010807,Open bite,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0100587,Abnormal preputium morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0100669,Abnormal pigmentation of the oral mucosa,Frequent (79-30%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0200039,Pustule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018781,Orphanet,2907,ORPHA:2907,47,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0000072,Hydroureter,Frequent (79-30%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0000795,Abnormality of the urethra,Frequent (79-30%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0000812,Abnormal internal genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0002023,Anal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0006501,Aplasia/Hypoplasia of the radius,Occasional (29-5%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0010458,Female pseudohermaphroditism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0100627,Displacement of the urethral meatus,Occasional (29-5%),TAS,,,,,y,y +GARD:0018782,Orphanet,2973,ORPHA:2973,15,HP:0100779,Urogenital sinus anomaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0018784,Orphanet,3004,ORPHA:3004,7,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018784,Orphanet,3004,ORPHA:3004,7,HP:0001829,Foot polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018784,Orphanet,3004,ORPHA:3004,7,HP:0002247,Duodenal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018784,Orphanet,3004,ORPHA:3004,7,HP:0003422,Vertebral segmentation defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018784,Orphanet,3004,ORPHA:3004,7,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018784,Orphanet,3004,ORPHA:3004,7,HP:0005359,Aplasia of the thymus,Frequent (79-30%),TAS,,,,,y,y +GARD:0018784,Orphanet,3004,ORPHA:3004,7,HP:0009829,Phocomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0001645,Sudden cardiac death,Very rare (<4-1%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0001650,Aortic valve stenosis,Obligate (100%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0001706,Endocardial fibroelastosis,Occasional (29-5%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0001712,Left ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0002875,Exertional dyspnea,Very frequent (99-80%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0004380,Aortic valve calcification,Frequent (79-30%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0005135,Abnormal T-wave,Frequent (79-30%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0005162,Abnormal left ventricular function,Occasional (29-5%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0005176,Dysplastic aortic valve,Frequent (79-30%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0010883,Aortic valve atresia,Frequent (79-30%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0012664,Reduced ejection fraction,Occasional (29-5%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0012727,Thoracic aortic aneurysm,Very rare (<4-1%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0025075,Increased QRS voltage,Frequent (79-30%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0030148,Heart murmur,Very frequent (99-80%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0030850,Abnormal pulse pressure,Occasional (29-5%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018786,Orphanet,3093,ORPHA:3093,17,HP:0100584,Endocarditis,Occasional (29-5%),TAS,,,,"[PMID:17382664, PMID:20643258, PMID:21109119, PMID:3627218, PMID:5104978, PMID:5659398, PMID:568478, PMID:7378217]",y,y +GARD:0018787,Orphanet,3151,ORPHA:3151,12,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018787,Orphanet,3151,ORPHA:3151,12,HP:0000651,Diplopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018787,Orphanet,3151,ORPHA:3151,12,HP:0000763,Sensory neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018787,Orphanet,3151,ORPHA:3151,12,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018787,Orphanet,3151,ORPHA:3151,12,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018787,Orphanet,3151,ORPHA:3151,12,HP:0001881,Abnormal leukocyte morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018787,Orphanet,3151,ORPHA:3151,12,HP:0001928,Abnormality of coagulation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018787,Orphanet,3151,ORPHA:3151,12,HP:0002321,Vertigo,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018787,Orphanet,3151,ORPHA:3151,12,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018787,Orphanet,3151,ORPHA:3151,12,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018787,Orphanet,3151,ORPHA:3151,12,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018787,Orphanet,3151,ORPHA:3151,12,HP:0100654,Retrobulbar optic neuritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018788,Orphanet,3225,ORPHA:3225,3,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018788,Orphanet,3225,ORPHA:3225,3,HP:0002902,Hyponatremia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018788,Orphanet,3225,ORPHA:3225,3,HP:0010286,Abnormal salivary gland morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0001047,Atopic dermatitis,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0001332,Dystonia,Excluded (0%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0002171,Gliosis,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0002506,Diffuse cerebral atrophy,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0002510,Spastic tetraplegia,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0002599,Head titubation,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0003281,Increased circulating ferritin concentration,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0004463,Absent brainstem auditory responses,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0004840,Hypochromic microcytic anemia,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0007346,Subcortical white matter calcifications,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0008568,Vestibular areflexia,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,[PMID:9112970],y,y +GARD:0018789,Orphanet,3240,ORPHA:3240,23,HP:0011002,Osteopetrosis,Excluded (0%),TAS,,,,[PMID:9112970],y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000260,Wide anterior fontanel,Occasional (29-5%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0000961,Cyanosis,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0001612,Weak cry,Occasional (29-5%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0001635,Congestive heart failure,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0001845,Overlapping toe,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0002092,Pulmonary arterial hypertension,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0004467,Preauricular pit,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0005989,Redundant neck skin,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0006931,Pericallosal lipoma,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0007483,Depigmentation/hyperpigmentation of skin,Occasional (29-5%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0010109,Short hallux,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Occasional (29-5%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018792,Orphanet,3309,ORPHA:3309,44,HP:0100807,Long fingers,Very frequent (99-80%),TAS,,,,"[PMID:11360274, PMID:19938082, PMID:22247041, PMID:7504882, PMID:9021026]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000075,Renal duplication,Occasional (29-5%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0001161,Hand polydactyly,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0001747,Accessory spleen,Occasional (29-5%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0001822,Hallux valgus,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0002000,Short columella,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0002572,Episodic vomiting,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0006897,Abducens palsy,Occasional (29-5%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0008619,Bilateral sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0008905,Rhizomelia,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0009911,Abnormal temporal bone morphology,Frequent (79-30%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018794,Orphanet,3379,ORPHA:3379,42,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:12244560, PMID:18444226, PMID:20420026, PMID:26166353, PMID:3265610, PMID:3359688, PMID:3874592, PMID:477015, PMID:8267933]",y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0000969,Edema,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0001907,Thromboembolism,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0001945,Fever,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0002315,Headache,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0002383,Infectious encephalitis,Very rare (<4-1%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0002571,Achalasia,Occasional (29-5%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0009830,Peripheral neuropathy,Very rare (<4-1%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0011355,Localized skin lesion,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0012700,Abnormal large intestine physiology,Occasional (29-5%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0012735,Cough,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0012819,Myocarditis,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0030057,Autoimmune antibody positivity,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018795,Orphanet,3386,ORPHA:3386,27,HP:0100539,Periorbital edema,Frequent (79-30%),TAS,,,,[PMID:26513769],y,y +GARD:0018798,Orphanet,3400,ORPHA:3400,8,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,[PMID:17922908],y,y +GARD:0018798,Orphanet,3400,ORPHA:3400,8,HP:0001654,Abnormal heart valve morphology,Frequent (79-30%),TAS,,,,[PMID:17922908],y,y +GARD:0018798,Orphanet,3400,ORPHA:3400,8,HP:0001679,Abnormal aortic morphology,Frequent (79-30%),TAS,,,,[PMID:17922908],y,y +GARD:0018798,Orphanet,3400,ORPHA:3400,8,HP:0001714,Ventricular hypertrophy,Very frequent (99-80%),TAS,,,,[PMID:17922908],y,y +GARD:0018798,Orphanet,3400,ORPHA:3400,8,HP:0002616,Aortic root aneurysm,Frequent (79-30%),TAS,,,,[PMID:17922908],y,y +GARD:0018798,Orphanet,3400,ORPHA:3400,8,HP:0006704,Abnormal coronary artery morphology,Frequent (79-30%),TAS,,,,[PMID:17922908],y,y +GARD:0018798,Orphanet,3400,ORPHA:3400,8,HP:0011627,Aorto-ventricular tunnel,Obligate (100%),TAS,,,,[PMID:17922908],y,y +GARD:0018798,Orphanet,3400,ORPHA:3400,8,HP:0030148,Heart murmur,Occasional (29-5%),TAS,,,,[PMID:17922908],y,y +GARD:0018800,Orphanet,31142,ORPHA:31142,6,HP:0000155,Oral ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018800,Orphanet,31142,ORPHA:31142,6,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018800,Orphanet,31142,ORPHA:31142,6,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018800,Orphanet,31142,ORPHA:31142,6,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018800,Orphanet,31142,ORPHA:31142,6,HP:0100725,Lichenification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018800,Orphanet,31142,ORPHA:31142,6,HP:0100825,Cheilitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0001871,Abnormality of blood and blood-forming tissues,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0001974,Leukocytosis,Very frequent (99-80%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0002018,Nausea,Very frequent (99-80%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0002148,Hypophosphatemia,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0002900,Hypokalemia,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0002901,Hypocalcemia,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0002917,Hypomagnesemia,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0003111,Abnormal blood ion concentration,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0004360,Abnormality of acid-base homeostasis,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0004372,Reduced consciousness/confusion,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0005521,Disseminated intravascular coagulation,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0006543,Cardiorespiratory arrest,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0006846,Acute encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0011106,Hypovolemia,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0012819,Myocarditis,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0030149,Cardiogenic shock,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018803,Orphanet,31824,ORPHA:31824,29,HP:0100520,Oliguria,Frequent (79-30%),TAS,,,,"[PMID:24196723, PMID:24353429, PMID:25257122]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0000587,Abnormality of the optic nerve,Occasional (29-5%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0001342,Cerebral hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0002170,Intracranial hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0002339,Abnormal caudate nucleus morphology,Very rare (<4-1%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0002453,Abnormal globus pallidus morphology,Occasional (29-5%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0004754,Permanent atrial fibrillation,Very rare (<4-1%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0005291,Inflammatory arteriopathy,Very rare (<4-1%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0007146,Bilateral basal ganglia lesions,Occasional (29-5%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0012128,Basal ganglia necrosis,Occasional (29-5%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0030955,Alcoholism,Frequent (79-30%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0031422,Abnormal cerebellar cortex morphology,Very rare (<4-1%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0031982,Abnormal putamen morphology,Frequent (79-30%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018804,Orphanet,31825,ORPHA:31825,29,HP:0100651,Type I diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:20139536, PMID:26806851, PMID:29171574]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0000124,Renal tubular dysfunction,Very rare (<4-1%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0000602,Ophthalmoplegia,Very rare (<4-1%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0000790,Hematuria,Very rare (<4-1%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0001298,Encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0001336,Myoclonus,Very rare (<4-1%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0001350,Slurred speech,Frequent (79-30%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0002045,Hypothermia,Very rare (<4-1%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0002153,Hyperkalemia,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0002181,Cerebral edema,Very rare (<4-1%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0002329,Drowsiness,Frequent (79-30%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0002793,Abnormal pattern of respiration,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0002901,Hypocalcemia,Frequent (79-30%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0004885,Episodic respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0005110,Atrial fibrillation,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0005263,Gastritis,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0007695,Abnormal pupillary light reflex,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0008682,Renal tubular epithelial necrosis,Very rare (<4-1%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0010628,Facial palsy,Very rare (<4-1%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0011037,Decreased urine output,Very rare (<4-1%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0030157,Flank pain,Very rare (<4-1%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0030955,Alcoholism,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0031273,Shock,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0031844,Euphoria,Frequent (79-30%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0031910,Abnormal cranial nerve physiology,Very rare (<4-1%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0031962,Elevated serum anion gap,Frequent (79-30%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018805,Orphanet,31826,ORPHA:31826,44,HP:0100598,Pulmonary edema,Occasional (29-5%),TAS,,,,"[PMID:22085425, PMID:24215789, PMID:26566024, PMID:29899323]",y,y +GARD:0018808,Orphanet,33408,ORPHA:33408,5,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,,y,y +GARD:0018808,Orphanet,33408,ORPHA:33408,5,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018808,Orphanet,33408,ORPHA:33408,5,HP:0100725,Lichenification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018808,Orphanet,33408,ORPHA:33408,5,HP:0100783,Breast aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018808,Orphanet,33408,ORPHA:33408,5,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0000236,Abnormality of the anterior fontanelle,Occasional (29-5%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0000967,Petechiae,Frequent (79-30%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0001085,Papilledema,Occasional (29-5%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0002045,Hypothermia,Very rare (<4-1%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0002329,Drowsiness,Occasional (29-5%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0002383,Infectious encephalitis,Very rare (<4-1%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0002587,Projectile vomiting,Frequent (79-30%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0002643,Neonatal respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0002922,Increased CSF protein,Very frequent (99-80%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0004372,Reduced consciousness/confusion,Frequent (79-30%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0006824,Cranial nerve paralysis,Very rare (<4-1%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0011880,Acute disseminated intravascular coagulation,Very rare (<4-1%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0011972,Hypoglycorrhachia,Very frequent (99-80%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0012229,CSF pleocytosis,Very frequent (99-80%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0025258,Stiff neck,Very frequent (99-80%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0031179,Nuchal rigidity,Very frequent (99-80%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0031273,Shock,Very rare (<4-1%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018809,Orphanet,33475,ORPHA:33475,34,HP:0100806,Sepsis,Frequent (79-30%),TAS,,,,"[PMID:29203096, PMID:30860561, PMID:31956973, PMID:31990941]",y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0000113,Polycystic kidney dysplasia,Very rare (<4-1%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0000938,Osteopenia,Very rare (<4-1%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0002176,Spinal cord compression,Frequent (79-30%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0002859,Rhabdomyosarcoma,Very rare (<4-1%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0002944,Thoracolumbar scoliosis,Occasional (29-5%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0003416,Spinal canal stenosis,Frequent (79-30%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0003764,Nevus,Very frequent (99-80%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0004942,Aortic aneurysm,Very rare (<4-1%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0006827,Atrophy of the spinal cord,Frequent (79-30%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0007199,Progressive spastic paraparesis,Frequent (79-30%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0009077,Weakness of long finger extensor muscles,Occasional (29-5%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0010302,Spinal cord tumor,Occasional (29-5%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0012032,Lipoma,Occasional (29-5%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0012443,Abnormality of brain morphology,Occasional (29-5%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0012531,Pain,Frequent (79-30%),TAS,,,,[PMID:25928347],y,y +GARD:0018813,Orphanet,35125,ORPHA:35125,26,HP:0100512,Low levels of vitamin D,Very rare (<4-1%),TAS,,,,[PMID:25928347],y,y +GARD:0018820,Orphanet,36237,ORPHA:36237,8,HP:0003095,Septic arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0018820,Orphanet,36237,ORPHA:36237,8,HP:0005406,Recurrent bacterial skin infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018820,Orphanet,36237,ORPHA:36237,8,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018820,Orphanet,36237,ORPHA:36237,8,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018820,Orphanet,36237,ORPHA:36237,8,HP:0100763,Abnormality of the lymphatic system,Occasional (29-5%),TAS,,,,,y,y +GARD:0018820,Orphanet,36237,ORPHA:36237,8,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0018820,Orphanet,36237,ORPHA:36237,8,HP:0100820,Glomerulopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0018820,Orphanet,36237,ORPHA:36237,8,HP:0200039,Pustule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0000819,Diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0001974,Leukocytosis,Very frequent (99-80%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0002090,Pneumonia,Very frequent (99-80%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0002107,Pneumothorax,Occasional (29-5%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0002113,Pulmonary infiltrates,Occasional (29-5%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0002202,Pleural effusion,Frequent (79-30%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0002789,Tachypnea,Very frequent (99-80%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0011897,Neutrophilia,Frequent (79-30%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0011919,Pleural empyema,Frequent (79-30%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0011949,Acute infectious pneumonia,Frequent (79-30%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0025144,Shivering,Occasional (29-5%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0025419,Pulmonary pneumatocele,Occasional (29-5%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0025439,Pharyngitis,Occasional (29-5%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0030955,Alcoholism,Very rare (<4-1%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0031246,Nonproductive cough,Frequent (79-30%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0031273,Shock,Occasional (29-5%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0031864,Bacteremia,Frequent (79-30%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0032016,Abnormal sputum,Occasional (29-5%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0032169,Severe infection,Very frequent (99-80%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0032177,Parenchymal consolidation,Frequent (79-30%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0032308,Increased circulating procalcitonin concentration,Frequent (79-30%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018821,Orphanet,36238,ORPHA:36238,38,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:22388585, PMID:24980464, PMID:26785088, PMID:28192581]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0000819,Diabetes mellitus,Excluded (0%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0000963,Thin skin,Occasional (29-5%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0001065,Striae distensae,Occasional (29-5%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0001297,Stroke,Frequent (79-30%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0002138,Subarachnoid hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0002357,Dysphasia,Frequent (79-30%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0002637,Cerebral ischemia,Frequent (79-30%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0003119,Abnormal circulating lipid concentration,Excluded (0%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0003470,Paralysis,Frequent (79-30%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0003549,Abnormality of connective tissue,Very frequent (99-80%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0004944,Dilatation of the cerebral artery,Occasional (29-5%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0004968,Recurrent cerebral hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0005302,Carotid artery tortuosity,Excluded (0%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0005313,Arterial fibromuscular dysplasia,Excluded (0%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0012158,Carotid artery dissection,Very frequent (99-80%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018823,Orphanet,36382,ORPHA:36382,22,HP:0012163,Carotid artery dilatation,Occasional (29-5%),TAS,,,,"[PMID:16728685, PMID:17053184, PMID:17290107, PMID:1750052, PMID:22507869, PMID:24698500, PMID:25355833, PMID:8614918]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0001677,Coronary artery atherosclerosis,Very rare (<4-1%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0002199,Hypocalcemic seizures,Very rare (<4-1%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0002728,Chronic mucocutaneous candidiasis,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0002905,Hyperphosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0003472,Hypocalcemic tetany,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0003739,Myoclonic spasms,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0004308,Ventricular arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0004724,Calcium nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0005162,Abnormal left ventricular function,Very rare (<4-1%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0011001,Increased bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0011458,Abdominal symptom,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0011771,Autoimmune hypoparathyroidism,Obligate (100%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0012049,Laryngeal dystonia,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0030057,Autoimmune antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018824,Orphanet,36913,ORPHA:36913,28,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:11834431, PMID:15342816, PMID:15356052, PMID:18535072, PMID:18650515, PMID:19328421, PMID:19959750, PMID:24424178, PMID:26160136, PMID:4164473]",y,y +GARD:0018825,Orphanet,37202,ORPHA:37202,13,HP:0000009,Functional abnormality of the bladder,Very frequent (99-80%),TAS,,,,[PMID:22057291],y,y +GARD:0018825,Orphanet,37202,ORPHA:37202,13,HP:0000012,Urinary urgency,Very frequent (99-80%),TAS,,,,[PMID:22057291],y,y +GARD:0018825,Orphanet,37202,ORPHA:37202,13,HP:0000014,Abnormality of the bladder,Very frequent (99-80%),TAS,,,,[PMID:22057291],y,y +GARD:0018825,Orphanet,37202,ORPHA:37202,13,HP:0000017,Nocturia,Very frequent (99-80%),TAS,,,,[PMID:22057291],y,y +GARD:0018825,Orphanet,37202,ORPHA:37202,13,HP:0000058,Abnormal labia morphology,Very frequent (99-80%),TAS,,,,[PMID:22057291],y,y +GARD:0018825,Orphanet,37202,ORPHA:37202,13,HP:0000078,Abnormality of the genital system,Very frequent (99-80%),TAS,,,,[PMID:22057291],y,y +GARD:0018825,Orphanet,37202,ORPHA:37202,13,HP:0000140,Abnormality of the menstrual cycle,Very frequent (99-80%),TAS,,,,[PMID:22057291],y,y +GARD:0018825,Orphanet,37202,ORPHA:37202,13,HP:0000142,Abnormal vagina morphology,Occasional (29-5%),TAS,,,,[PMID:22057291],y,y +GARD:0018825,Orphanet,37202,ORPHA:37202,13,HP:0000795,Abnormality of the urethra,Very frequent (99-80%),TAS,,,,[PMID:22057291],y,y +GARD:0018825,Orphanet,37202,ORPHA:37202,13,HP:0012531,Pain,Very frequent (99-80%),TAS,,,,[PMID:22057291],y,y +GARD:0018825,Orphanet,37202,ORPHA:37202,13,HP:0030016,Dyspareunia,Very frequent (99-80%),TAS,,,,[PMID:22057291],y,y +GARD:0018825,Orphanet,37202,ORPHA:37202,13,HP:0100515,Pollakisuria,Very frequent (99-80%),TAS,,,,[PMID:22057291],y,y +GARD:0018825,Orphanet,37202,ORPHA:37202,13,HP:0100577,Urinary bladder inflammation,Very frequent (99-80%),TAS,,,,[PMID:22057291],y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0000378,Cupped ear,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0000479,Abnormal retinal morphology,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0000778,Hypoplasia of the thymus,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0001662,Bradycardia,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0001709,Third degree atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0001710,Conotruncal defect,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0005104,Hypoplastic nasal septum,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0006493,Aplasia/hypoplasia involving bones of the lower limbs,Occasional (29-5%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0006496,Aplasia/hypoplasia involving bones of the upper limbs,Occasional (29-5%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0006695,Atrioventricular canal defect,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0008058,Aplasia/Hypoplasia of the optic nerve,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0008364,Abnormality of the calcaneus,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0008619,Bilateral sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0009099,Median cleft palate,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0009117,Aplasia/Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0009760,Antecubital pterygium,Occasional (29-5%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0011438,Maternal teratogenic exposure,Obligate (100%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018827,Orphanet,40366,ORPHA:40366,27,HP:0012759,Neurodevelopmental abnormality,Frequent (79-30%),TAS,,,,"[PMID:15470719, PMID:26402853, PMID:8075435, PMID:8838291]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0000570,Abnormal saccadic eye movements,Occasional (29-5%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0000711,Restlessness,Frequent (79-30%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0000738,Hallucinations,Very rare (<4-1%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0001276,Hypertonia,Very rare (<4-1%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0001919,Acute kidney injury,Very rare (<4-1%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0002063,Rigidity,Very rare (<4-1%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0002270,Abnormality of the autonomic nervous system,Very frequent (99-80%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0002615,Hypotension,Very rare (<4-1%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0003128,Lactic acidosis,Occasional (29-5%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0003201,Rhabdomyolysis,Very rare (<4-1%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0005521,Disseminated intravascular coagulation,Very rare (<4-1%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0011499,Mydriasis,Occasional (29-5%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0031258,Delirium,Very rare (<4-1%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0032044,Decreased vigilance,Occasional (29-5%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018828,Orphanet,43116,ORPHA:43116,34,HP:0100785,Insomnia,Frequent (79-30%),TAS,,,,"[PMID:30243558, PMID:30315014, PMID:31075831]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0001520,Large for gestational age,Occasional (29-5%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0003115,Abnormal EKG,Very frequent (99-80%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0004755,Supraventricular tachycardia,Very frequent (99-80%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0004763,Paroxysmal supraventricular tachycardia,Frequent (79-30%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0005150,Abnormal atrioventricular conduction,Very frequent (99-80%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0005162,Abnormal left ventricular function,Frequent (79-30%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0012664,Reduced ejection fraction,Frequent (79-30%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0025074,Abnormal QRS complex,Frequent (79-30%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018831,Orphanet,45452,ORPHA:45452,15,HP:0025116,Fetal distress,Occasional (29-5%),TAS,,,,"[PMID:263874, PMID:29706767, PMID:30511544, PMID:32366806, PMID:9616850]",y,y +GARD:0018832,Orphanet,45453,ORPHA:45453,12,HP:0001557,Prenatal movement abnormality,Frequent (79-30%),TAS,,,,"[PMID:18495675, PMID:23438626, PMID:2387941, PMID:3624668]",y,y +GARD:0018832,Orphanet,45453,ORPHA:45453,12,HP:0001635,Congestive heart failure,Very frequent (99-80%),TAS,,,,"[PMID:18495675, PMID:23438626, PMID:2387941, PMID:3624668]",y,y +GARD:0018832,Orphanet,45453,ORPHA:45453,12,HP:0001695,Cardiac arrest,Very frequent (99-80%),TAS,,,,"[PMID:18495675, PMID:23438626, PMID:2387941, PMID:3624668]",y,y +GARD:0018832,Orphanet,45453,ORPHA:45453,12,HP:0001716,Wolff-Parkinson-White syndrome,Occasional (29-5%),TAS,,,,"[PMID:18495675, PMID:23438626, PMID:2387941, PMID:3624668]",y,y +GARD:0018832,Orphanet,45453,ORPHA:45453,12,HP:0004755,Supraventricular tachycardia,Frequent (79-30%),TAS,,,,"[PMID:18495675, PMID:23438626, PMID:2387941, PMID:3624668]",y,y +GARD:0018832,Orphanet,45453,ORPHA:45453,12,HP:0004756,Ventricular tachycardia,Obligate (100%),TAS,,,,"[PMID:18495675, PMID:23438626, PMID:2387941, PMID:3624668]",y,y +GARD:0018832,Orphanet,45453,ORPHA:45453,12,HP:0005152,Histiocytoid cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:18495675, PMID:23438626, PMID:2387941, PMID:3624668]",y,y +GARD:0018832,Orphanet,45453,ORPHA:45453,12,HP:0006677,Prolonged QRS complex,Very frequent (99-80%),TAS,,,,"[PMID:18495675, PMID:23438626, PMID:2387941, PMID:3624668]",y,y +GARD:0018832,Orphanet,45453,ORPHA:45453,12,HP:0009729,Cardiac rhabdomyoma,Frequent (79-30%),TAS,,,,"[PMID:18495675, PMID:23438626, PMID:2387941, PMID:3624668]",y,y +GARD:0018832,Orphanet,45453,ORPHA:45453,12,HP:0011710,Bundle branch block,Very frequent (99-80%),TAS,,,,"[PMID:18495675, PMID:23438626, PMID:2387941, PMID:3624668]",y,y +GARD:0018832,Orphanet,45453,ORPHA:45453,12,HP:0025169,Left ventricular systolic dysfunction,Excluded (0%),TAS,,,,"[PMID:18495675, PMID:23438626, PMID:2387941, PMID:3624668]",y,y +GARD:0018832,Orphanet,45453,ORPHA:45453,12,HP:0031595,Abnormal P wave,Very frequent (99-80%),TAS,,,,"[PMID:18495675, PMID:23438626, PMID:2387941, PMID:3624668]",y,y +GARD:0018834,Orphanet,46488,ORPHA:46488,9,HP:0000155,Oral ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0018834,Orphanet,46488,ORPHA:46488,9,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,,y,y +GARD:0018834,Orphanet,46488,ORPHA:46488,9,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,,y,y +GARD:0018834,Orphanet,46488,ORPHA:46488,9,HP:0002037,Inflammation of the large intestine,Occasional (29-5%),TAS,,,,,y,y +GARD:0018834,Orphanet,46488,ORPHA:46488,9,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018834,Orphanet,46488,ORPHA:46488,9,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018834,Orphanet,46488,ORPHA:46488,9,HP:0009725,Bladder neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0018834,Orphanet,46488,ORPHA:46488,9,HP:0009726,Renal neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0018834,Orphanet,46488,ORPHA:46488,9,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0000099,Glomerulonephritis,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0000793,Membranoproliferative glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0001063,Acrocyanosis,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0002011,Morphological central nervous system abnormality,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0002140,Ischemic stroke,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0002617,Vascular dilatation,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0002726,Recurrent Staphylococcus aureus infections,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0002923,Rheumatoid factor positive,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0003261,Increased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0004386,Gastrointestinal inflammation,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0005318,Cerebral vasculitis,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0005366,Recurrent streptococcus pneumoniae infections,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0005368,Abnormality of humoral immunity,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0005401,Recurrent candida infections,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0006562,Viral hepatitis,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0006689,Bacterial endocarditis,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0010702,Increased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0010876,Abnormal circulating protein concentration,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0011123,Inflammatory abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0011274,Recurrent mycobacterial infections,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0012649,Increased inflammatory response,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0020101,Invasive fungal infection,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0020114,Persistent human papillomavirus infection,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0020180,Elevated haptoglobin level,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0025188,Retinal vasculitis,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0030166,Night sweats,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0030880,Raynaud phenomenon,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0031363,Palpable purpura,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0031691,Severe viral infection,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0031692,Severe cytomegalovirus infection,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0031693,Severe Epstein Barr virus infection,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0032018,Multiple mononeuropathy,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0032166,Unusual gastrointestinal infection,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0032170,Severe varicella zoster infection,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0032230,Cytoplasmic antineutrophil antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0100778,Cryoglobulinemia,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0100796,Orchitis,Occasional (29-5%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0200029,Vasculitis in the skin,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018835,Orphanet,48435,ORPHA:48435,57,HP:0410008,Abnormality of the peripheral nervous system,Frequent (79-30%),TAS,,,,"[PMID:25876145, PMID:29624865, PMID:32348521]",y,y +GARD:0018837,Orphanet,48918,ORPHA:48918,7,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0018837,Orphanet,48918,ORPHA:48918,7,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0018837,Orphanet,48918,ORPHA:48918,7,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0018837,Orphanet,48918,ORPHA:48918,7,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0018837,Orphanet,48918,ORPHA:48918,7,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0018837,Orphanet,48918,ORPHA:48918,7,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018837,Orphanet,48918,ORPHA:48918,7,HP:0100614,Myositis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0001063,Acrocyanosis,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0001977,Abnormal thrombosis,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0002958,Immune dysregulation,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0003645,Prolonged partial thromboplastin time,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0004855,Reduced protein S activity,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0005521,Disseminated intravascular coagulation,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0005543,Reduced protein C activity,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0008151,Prolonged prothrombin time,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0011029,Internal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0011900,Hypofibrinogenemia,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0012733,Macule,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0025022,Decreased erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0025452,Pyoderma gangrenosum,Very rare (<4-1%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0025475,Erythematous macule,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0031273,Shock,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0031365,Macular purpura,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0100758,Gangrene,Frequent (79-30%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018838,Orphanet,49566,ORPHA:49566,25,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:17679737, PMID:20034317, PMID:2142890, PMID:23582572, PMID:29157918]",y,y +GARD:0018839,Orphanet,49804,ORPHA:49804,2,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018839,Orphanet,49804,ORPHA:49804,2,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0000829,Hypoparathyroidism,Frequent (79-30%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0000878,11 pairs of ribs,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0001181,Adducted thumb,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0001339,Lissencephaly,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0004554,Generalized hypertrichosis,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0005484,Secondary microcephaly,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0010945,Fetal pyelectasis,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0100530,Abnormal calcium-phosphate regulating hormone level,Frequent (79-30%),TAS,,,,[PMID:12923870],y,y +GARD:0018840,Orphanet,50810,ORPHA:50810,25,HP:0100540,Palpebral edema,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0000298,Mask-like facies,Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0000307,Pointed chin,Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0002299,Brittle hair,Frequent (79-30%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018841,Orphanet,50812,ORPHA:50812,22,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:12784304],y,y +GARD:0018842,Orphanet,50817,ORPHA:50817,11,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018842,Orphanet,50817,ORPHA:50817,11,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018842,Orphanet,50817,ORPHA:50817,11,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018842,Orphanet,50817,ORPHA:50817,11,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018842,Orphanet,50817,ORPHA:50817,11,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018842,Orphanet,50817,ORPHA:50817,11,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018842,Orphanet,50817,ORPHA:50817,11,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018842,Orphanet,50817,ORPHA:50817,11,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018842,Orphanet,50817,ORPHA:50817,11,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018842,Orphanet,50817,ORPHA:50817,11,HP:0003508,Proportionate short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018842,Orphanet,50817,ORPHA:50817,11,HP:0009921,Duane anomaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0000010,Recurrent urinary tract infections,Very rare (<4-1%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0000023,Inguinal hernia,Very rare (<4-1%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0003474,Somatic sensory dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0003565,Elevated erythrocyte sedimentation rate,Occasional (29-5%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0004325,Decreased body weight,Very rare (<4-1%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0004798,Recurrent infection of the gastrointestinal tract,Very rare (<4-1%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0010830,Impaired tactile sensation,Very frequent (99-80%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0012533,Allodynia,Occasional (29-5%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018843,Orphanet,51890,ORPHA:51890,17,HP:0100963,Hyperesthesia,Occasional (29-5%),TAS,,,,"[PMID:24197667, PMID:29270882, PMID:29516161, PMID:30817351]",y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0000551,Color vision defect,Frequent (79-30%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0000657,Oculomotor apraxia,Very frequent (99-80%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0000739,Anxiety,Very frequent (99-80%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0001289,Confusion,Very frequent (99-80%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0002367,Visual hallucinations,Occasional (29-5%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0002442,Dyscalculia,Very frequent (99-80%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0002494,Abnormal rapid eye movement sleep,Occasional (29-5%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0010522,Dyslexia,Frequent (79-30%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0010523,Alexia,Very frequent (99-80%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0010524,Agnosia,Very frequent (99-80%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0010525,Finger agnosia,Very frequent (99-80%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0010526,Dysgraphia,Very frequent (99-80%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0030216,Inertia,Occasional (29-5%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0030217,Limb apraxia,Frequent (79-30%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018846,Orphanet,54247,ORPHA:54247,21,HP:0100704,Cerebral visual impairment,Very frequent (99-80%),TAS,,,,[PMCID:PMC3740301],y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0001394,Cirrhosis,Obligate (100%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0001657,Prolonged QT interval,Very frequent (99-80%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0001712,Left ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0003546,Exercise intolerance,Very frequent (99-80%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0004308,Ventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0004890,Elevated pulmonary artery pressure,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0005185,Global systolic dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0012398,Peripheral edema,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0012664,Reduced ejection fraction,Very frequent (99-80%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0020182,Abnormal A-type atrial natriuretic peptide level,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0025168,Left ventricular diastolic dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0025406,Asthenia,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0030718,Right atrial enlargement,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0030848,Elevated jugular venous pressure,Occasional (29-5%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0030955,Alcoholism,Occasional (29-5%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0030973,Postexertional malaise,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0031138,Abnormal B-type natriuretic peptide level,Very frequent (99-80%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0031185,Increased circulating NT-proBNP concentration,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0031295,Left atrial enlargement,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0031658,Third heart sound,Occasional (29-5%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0031659,Fourth heart sound,Occasional (29-5%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0032106,Conjunctival icterus,Occasional (29-5%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0032205,Increased circulating galectin-3 level,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0100598,Pulmonary edema,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0410173,Increased circulating troponin I concentration,Frequent (79-30%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018852,Orphanet,57777,ORPHA:57777,33,HP:0500018,Abnormal cardiac exercise stress test,Very frequent (99-80%),TAS,,,,"[PMID:30785477, PMID:32651721]",y,y +GARD:0018853,Orphanet,57782,ORPHA:57782,5,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,,y,y +GARD:0018853,Orphanet,57782,ORPHA:57782,5,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018853,Orphanet,57782,ORPHA:57782,5,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0018853,Orphanet,57782,ORPHA:57782,5,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0018853,Orphanet,57782,ORPHA:57782,5,HP:0010734,Fibrous dysplasia of the bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0000130,Abnormality of the uterus,Occasional (29-5%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0000271,Abnormality of the face,Occasional (29-5%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0000308,Microretrognathia,Very frequent (99-80%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0002032,Esophageal atresia,Occasional (29-5%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0002335,Agenesis of cerebellar vermis,Very frequent (99-80%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0006899,Fusion of the cerebellar hemispheres,Very frequent (99-80%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0009803,Short phalanx of finger,Occasional (29-5%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0009943,Complete duplication of thumb phalanx,Occasional (29-5%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0010442,Polydactyly,Occasional (29-5%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0010664,Fusion of the left and right thalami,Frequent (79-30%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0012210,Abnormal renal morphology,Occasional (29-5%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0100321,Abnormal dentate nucleus morphology,Very frequent (99-80%),TAS,,,,[PMID:819057916],y,y +GARD:0018855,Orphanet,59315,ORPHA:59315,30,HP:0100842,Septo-optic dysplasia,Frequent (79-30%),TAS,,,,[PMID:819057916],y,y +GARD:0018858,Orphanet,63455,ORPHA:63455,7,HP:0000155,Oral ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018858,Orphanet,63455,ORPHA:63455,7,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018858,Orphanet,63455,ORPHA:63455,7,HP:0012191,B-cell lymphoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0018858,Orphanet,63455,ORPHA:63455,7,HP:0100242,Sarcoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0018858,Orphanet,63455,ORPHA:63455,7,HP:0100522,Thymoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0018858,Orphanet,63455,ORPHA:63455,7,HP:0200041,Skin erosion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018858,Orphanet,63455,ORPHA:63455,7,HP:0200097,Oral mucosal blisters,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018864,Orphanet,64741,ORPHA:64741,9,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0018864,Orphanet,64741,ORPHA:64741,9,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0018864,Orphanet,64741,ORPHA:64741,9,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0018864,Orphanet,64741,ORPHA:64741,9,HP:0002105,Hemoptysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018864,Orphanet,64741,ORPHA:64741,9,HP:0002113,Pulmonary infiltrates,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018864,Orphanet,64741,ORPHA:64741,9,HP:0006532,Recurrent pneumonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018864,Orphanet,64741,ORPHA:64741,9,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018864,Orphanet,64741,ORPHA:64741,9,HP:0100528,Pleuropulmonary blastoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018864,Orphanet,64741,ORPHA:64741,9,HP:0100749,Chest pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0001402,Hepatocellular carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0001405,Periportal fibrosis,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0001409,Portal hypertension,Frequent (79-30%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0001971,Hypersplenism,Frequent (79-30%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0002040,Esophageal varix,Frequent (79-30%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0002480,Hepatic encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0002904,Hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0003262,Smooth muscle antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0006707,Abnormality of the hepatic vasculature,Frequent (79-30%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0008151,Prolonged prothrombin time,Frequent (79-30%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0011954,Nodular regenerative hyperplasia of liver,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0020136,Anticardiolipin IgG antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0020137,Anticardiolipin IgM antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0030146,Abnormal liver parenchyma morphology,Frequent (79-30%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0030169,Gastric varix,Frequent (79-30%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0030242,Portal vein thrombosis,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0031015,Intrahepatic portal vein sclerosis,Frequent (79-30%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018865,Orphanet,64743,ORPHA:64743,30,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:24133357, PMID:27555800, PMID:29043403]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0000821,Hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0000853,Goiter,Very frequent (99-80%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0000872,Hashimoto thyroiditis,Frequent (79-30%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0001605,Vocal cord paralysis,Occasional (29-5%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0002664,Neoplasm,Excluded (0%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0002777,Tracheal stenosis,Occasional (29-5%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0005200,Retroperitoneal fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0005994,Nodular goiter,Occasional (29-5%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0009798,Euthyroid goiter,Occasional (29-5%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0011784,Thyrotoxicosis with diffuse goiter,Very rare (<4-1%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0012393,Allergy,Excluded (0%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0012503,Abnormality of the pituitary gland,Very rare (<4-1%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0025379,Anti-thyroid peroxidase antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0030991,Sclerosing cholangitis,Very rare (<4-1%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0031281,Sialadenitis,Very rare (<4-1%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0032039,Abnormality of the ocular adnexa,Very rare (<4-1%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0032069,Anti-thyroglobulin antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0032300,Increased circulating IgG4 level,Frequent (79-30%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0045026,Abnormality of the mediastinum,Very rare (<4-1%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0100646,Thyroiditis,Very frequent (99-80%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0100647,Graves disease,Occasional (29-5%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018866,Orphanet,64744,ORPHA:64744,25,HP:0100732,Pancreatic fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:28101487, PMID:30889549, PMID:33311000, PMID:33649038]",y,y +GARD:0018867,Orphanet,65681,ORPHA:65681,12,HP:0000130,Abnormality of the uterus,Frequent (79-30%),TAS,,,,[PMID:28915489],y,y +GARD:0018867,Orphanet,65681,ORPHA:65681,12,HP:0000145,Transverse vaginal septum,Very rare (<4-1%),TAS,,,,[PMID:28915489],y,y +GARD:0018867,Orphanet,65681,ORPHA:65681,12,HP:0000148,Vaginal atresia,Obligate (100%),TAS,,,,[PMID:28915489],y,y +GARD:0018867,Orphanet,65681,ORPHA:65681,12,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,[PMID:28915489],y,y +GARD:0018867,Orphanet,65681,ORPHA:65681,12,HP:0000813,Bicornuate uterus,Very rare (<4-1%),TAS,,,,[PMID:28915489],y,y +GARD:0018867,Orphanet,65681,ORPHA:65681,12,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,[PMID:28915489],y,y +GARD:0018867,Orphanet,65681,ORPHA:65681,12,HP:0003762,Uterus didelphys,Occasional (29-5%),TAS,,,,[PMID:28915489],y,y +GARD:0018867,Orphanet,65681,ORPHA:65681,12,HP:0030011,Imperforate hymen,Frequent (79-30%),TAS,,,,[PMID:28915489],y,y +GARD:0018867,Orphanet,65681,ORPHA:65681,12,HP:0030160,Cervicitis,Occasional (29-5%),TAS,,,,[PMID:28915489],y,y +GARD:0018867,Orphanet,65681,ORPHA:65681,12,HP:0031500,Abdominal mass,Frequent (79-30%),TAS,,,,[PMID:28915489],y,y +GARD:0018867,Orphanet,65681,ORPHA:65681,12,HP:0031501,Pelvic mass,Frequent (79-30%),TAS,,,,[PMID:28915489],y,y +GARD:0018867,Orphanet,65681,ORPHA:65681,12,HP:0100674,Vaginal hematocele,Occasional (29-5%),TAS,,,,[PMID:28915489],y,y +GARD:0018868,Orphanet,66518,ORPHA:66518,6,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,[PMID:16132981],y,y +GARD:0018868,Orphanet,66518,ORPHA:66518,6,HP:0001742,Nasal congestion,Very frequent (99-80%),TAS,,,,[PMID:16132981],y,y +GARD:0018868,Orphanet,66518,ORPHA:66518,6,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,[PMID:16132981],y,y +GARD:0018868,Orphanet,66518,ORPHA:66518,6,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:16132981],y,y +GARD:0018868,Orphanet,66518,ORPHA:66518,6,HP:0004444,Spherocytosis,Very frequent (99-80%),TAS,,,,[PMID:16132981],y,y +GARD:0018868,Orphanet,66518,ORPHA:66518,6,HP:0010047,Short 5th metacarpal,Very frequent (99-80%),TAS,,,,[PMID:16132981],y,y +GARD:0018869,Orphanet,66633,ORPHA:66633,5,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0018869,Orphanet,66633,ORPHA:66633,5,HP:0000592,Blue sclerae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018869,Orphanet,66633,ORPHA:66633,5,HP:0001100,Heterochromia iridis,Occasional (29-5%),TAS,,,,,y,y +GARD:0018869,Orphanet,66633,ORPHA:66633,5,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,,y,y +GARD:0018869,Orphanet,66633,ORPHA:66633,5,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018870,Orphanet,66661,ORPHA:66661,9,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018870,Orphanet,66661,ORPHA:66661,9,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0018870,Orphanet,66661,ORPHA:66661,9,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018870,Orphanet,66661,ORPHA:66661,9,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0018870,Orphanet,66661,ORPHA:66661,9,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0018870,Orphanet,66661,ORPHA:66661,9,HP:0100242,Sarcoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018870,Orphanet,66661,ORPHA:66661,9,HP:0100495,Mastocytosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018870,Orphanet,66661,ORPHA:66661,9,HP:0100720,Hypoplasia of the ear cartilage,Frequent (79-30%),TAS,,,,,y,y +GARD:0018870,Orphanet,66661,ORPHA:66661,9,HP:0100721,Mediastinal lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0018896,Orphanet,69063,ORPHA:69063,5,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,[PMID:16609292],y,y +GARD:0018896,Orphanet,69063,ORPHA:69063,5,HP:0000099,Glomerulonephritis,Very frequent (99-80%),TAS,,,,[PMID:16609292],y,y +GARD:0018896,Orphanet,69063,ORPHA:69063,5,HP:0000100,Nephrotic syndrome,Very frequent (99-80%),TAS,,,,[PMID:16609292],y,y +GARD:0018896,Orphanet,69063,ORPHA:69063,5,HP:0030949,Glomerular deposits,Very frequent (99-80%),TAS,,,,[PMID:16609292],y,y +GARD:0018896,Orphanet,69063,ORPHA:69063,5,HP:0031437,Pregnancy exposure,Very frequent (99-80%),TAS,,,,[PMID:16609292],y,y +GARD:0018897,Orphanet,69736,ORPHA:69736,10,HP:0000593,Abnormal anterior chamber morphology,Frequent (79-30%),TAS,,,,"[PMID:21531477, PMID:27224078]",y,y +GARD:0018897,Orphanet,69736,ORPHA:69736,10,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:21531477, PMID:27224078]",y,y +GARD:0018897,Orphanet,69736,ORPHA:69736,10,HP:0002788,Recurrent upper respiratory tract infections,Occasional (29-5%),TAS,,,,"[PMID:21531477, PMID:27224078]",y,y +GARD:0018897,Orphanet,69736,ORPHA:69736,10,HP:0007990,Hypoplastic iris stroma,Obligate (100%),TAS,,,,"[PMID:21531477, PMID:27224078]",y,y +GARD:0018897,Orphanet,69736,ORPHA:69736,10,HP:0008034,Abnormal iris pigmentation,Obligate (100%),TAS,,,,"[PMID:21531477, PMID:27224078]",y,y +GARD:0018897,Orphanet,69736,ORPHA:69736,10,HP:0011488,Abnormal corneal endothelium morphology,Frequent (79-30%),TAS,,,,"[PMID:21531477, PMID:27224078]",y,y +GARD:0018897,Orphanet,69736,ORPHA:69736,10,HP:0012372,Abnormal eye morphology,Frequent (79-30%),TAS,,,,"[PMID:21531477, PMID:27224078]",y,y +GARD:0018897,Orphanet,69736,ORPHA:69736,10,HP:0012631,Pigment deposition in the trabecular meshwork,Occasional (29-5%),TAS,,,,"[PMID:21531477, PMID:27224078]",y,y +GARD:0018897,Orphanet,69736,ORPHA:69736,10,HP:0012634,Iris pigment dispersion,Occasional (29-5%),TAS,,,,"[PMID:21531477, PMID:27224078]",y,y +GARD:0018897,Orphanet,69736,ORPHA:69736,10,HP:0200026,Ocular pain,Frequent (79-30%),TAS,,,,"[PMID:21531477, PMID:27224078]",y,y +GARD:0018898,Orphanet,69744,ORPHA:69744,5,HP:0001227,Abnormality of the thenar eminence,Very frequent (99-80%),TAS,,,,"[PMID:24068139, PMID:28502096]",y,y +GARD:0018898,Orphanet,69744,ORPHA:69744,5,HP:0010486,Abnormality of the hypothenar eminence,Very frequent (99-80%),TAS,,,,"[PMID:24068139, PMID:28502096]",y,y +GARD:0018898,Orphanet,69744,ORPHA:69744,5,HP:0011121,Abnormality of skin morphology,Very frequent (99-80%),TAS,,,,"[PMID:24068139, PMID:28502096]",y,y +GARD:0018898,Orphanet,69744,ORPHA:69744,5,HP:0100872,Abnormality of the plantar skin of foot,Very frequent (99-80%),TAS,,,,"[PMID:24068139, PMID:28502096]",y,y +GARD:0018898,Orphanet,69744,ORPHA:69744,5,HP:0200035,Skin plaque,Very frequent (99-80%),TAS,,,,"[PMID:24068139, PMID:28502096]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0000464,Abnormality of the neck,Frequent (79-30%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0001231,Abnormal fingernail morphology,Very rare (<4-1%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0001892,Abnormal bleeding,Very rare (<4-1%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0001965,Abnormal scalp morphology,Frequent (79-30%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0006477,Abnormality of the alveolar ridges,Very rare (<4-1%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0011355,Localized skin lesion,Very frequent (99-80%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0011368,Epidermal thickening,Very frequent (99-80%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0012881,Abnormal labia majora morphology,Very rare (<4-1%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0025103,Umbilicated nodule,Frequent (79-30%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0025512,Skin-colored papule,Frequent (79-30%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0030350,Erythematous papule,Frequent (79-30%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0030416,Vulvar neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0031285,Abnormal perifollicular morphology,Very frequent (99-80%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0031445,Oral mucosa nodule,Occasional (29-5%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0100648,Neoplasm of the tongue,Very rare (<4-1%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0100737,Abnormal hard palate morphology,Very rare (<4-1%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0100792,Acantholysis,Very frequent (99-80%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0200016,Acrokeratosis,Frequent (79-30%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018899,Orphanet,69745,ORPHA:69745,19,HP:0410340,Focal epithelial hyperplasia of oral mucosa,Occasional (29-5%),TAS,,,,"[PMID:28326204, PMID:28831426, PMID:32670533]",y,y +GARD:0018900,Orphanet,70475,ORPHA:70475,13,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,[PMID:27504391],y,y +GARD:0018900,Orphanet,70475,ORPHA:70475,13,HP:0002034,Abnormal rectum morphology,Very frequent (99-80%),TAS,,,,[PMID:27504391],y,y +GARD:0018900,Orphanet,70475,ORPHA:70475,13,HP:0002573,Hematochezia,Very frequent (99-80%),TAS,,,,[PMID:27504391],y,y +GARD:0018900,Orphanet,70475,ORPHA:70475,13,HP:0002597,Abnormality of the vasculature,Very frequent (99-80%),TAS,,,,[PMID:27504391],y,y +GARD:0018900,Orphanet,70475,ORPHA:70475,13,HP:0003549,Abnormality of connective tissue,Very frequent (99-80%),TAS,,,,[PMID:27504391],y,y +GARD:0018900,Orphanet,70475,ORPHA:70475,13,HP:0004296,Abnormality of gastrointestinal vasculature,Very frequent (99-80%),TAS,,,,[PMID:27504391],y,y +GARD:0018900,Orphanet,70475,ORPHA:70475,13,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,[PMID:27504391],y,y +GARD:0018900,Orphanet,70475,ORPHA:70475,13,HP:0005224,Rectal abscess,Very frequent (99-80%),TAS,,,,[PMID:27504391],y,y +GARD:0018900,Orphanet,70475,ORPHA:70475,13,HP:0012089,Arteritis,Occasional (29-5%),TAS,,,,[PMID:27504391],y,y +GARD:0018900,Orphanet,70475,ORPHA:70475,13,HP:0012702,Tenesmus,Occasional (29-5%),TAS,,,,[PMID:27504391],y,y +GARD:0018900,Orphanet,70475,ORPHA:70475,13,HP:0025015,Abnormal vascular morphology,Very frequent (99-80%),TAS,,,,[PMID:27504391],y,y +GARD:0018900,Orphanet,70475,ORPHA:70475,13,HP:0100590,Rectal fistula,Very frequent (99-80%),TAS,,,,[PMID:27504391],y,y +GARD:0018900,Orphanet,70475,ORPHA:70475,13,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,[PMID:27504391],y,y +GARD:0018901,Orphanet,99977,ORPHA:99977,8,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0018901,Orphanet,99977,ORPHA:99977,8,HP:0001864,Clinodactyly of the 5th toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018901,Orphanet,99977,ORPHA:99977,8,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0018901,Orphanet,99977,ORPHA:99977,8,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0018901,Orphanet,99977,ORPHA:99977,8,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018901,Orphanet,99977,ORPHA:99977,8,HP:0011459,Esophageal carcinoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018901,Orphanet,99977,ORPHA:99977,8,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0018901,Orphanet,99977,ORPHA:99977,8,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0001733,Pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0001953,Diabetic ketoacidosis,Very rare (<4-1%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0002113,Pulmonary infiltrates,Very frequent (99-80%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0002633,Vasculitis,Very rare (<4-1%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0011118,Abnormality of tumor necrosis factor secretion,Frequent (79-30%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0012415,Abnormal blood gas level,Very frequent (99-80%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0012418,Hypoxemia,Very frequent (99-80%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0030782,Abnormal circulating interleukin concentration,Very frequent (99-80%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0030783,Increased circulating interleukin 6 concentration,Frequent (79-30%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0031273,Shock,Frequent (79-30%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0100598,Pulmonary edema,Frequent (79-30%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018902,Orphanet,70578,ORPHA:70578,17,HP:0100806,Sepsis,Frequent (79-30%),TAS,,,,"[PMID:28406724, PMID:29657094, PMID:30078618, PMID:30755248]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0000529,Progressive visual loss,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0001147,Retinal exudate,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0007902,Vitreous hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0008014,Central fundal arteriolar microaneurysms,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0009711,Retinal capillary hemangioma,Frequent (79-30%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0011532,Subretinal exudate,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0011886,Hyphema,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0012803,Anisometropia,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0030528,Paracentral scotoma,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0030786,Photopsia,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0100014,Epiretinal membrane,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018908,Orphanet,71213,ORPHA:71213,19,HP:0100832,Vitreous floaters,Occasional (29-5%),TAS,,,,"[PMID:1106760, PMID:19020641, PMID:22738997, PMID:24849703]",y,y +GARD:0018909,Orphanet,71267,ORPHA:71267,11,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018909,Orphanet,71267,ORPHA:71267,11,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018909,Orphanet,71267,ORPHA:71267,11,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018909,Orphanet,71267,ORPHA:71267,11,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018909,Orphanet,71267,ORPHA:71267,11,HP:0000703,Dentinogenesis imperfecta,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018909,Orphanet,71267,ORPHA:71267,11,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018909,Orphanet,71267,ORPHA:71267,11,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018909,Orphanet,71267,ORPHA:71267,11,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0018909,Orphanet,71267,ORPHA:71267,11,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018909,Orphanet,71267,ORPHA:71267,11,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018909,Orphanet,71267,ORPHA:71267,11,HP:0010579,Cone-shaped epiphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018910,Orphanet,71276,ORPHA:71276,3,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0018910,Orphanet,71276,ORPHA:71276,3,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018910,Orphanet,71276,ORPHA:71276,3,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0000603,Central scotoma,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0001105,Retinal atrophy,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0001133,Constriction of peripheral visual field,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0002367,Visual hallucinations,Very rare (<4-1%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0002894,Neoplasm of the pancreas,Very rare (<4-1%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0003003,Colon cancer,Very rare (<4-1%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0004377,Hematological neoplasm,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0006725,Pancreatic adenocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0006758,Malignant genitourinary tract tumor,Frequent (79-30%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0007641,Dyschromatopsia,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0007722,Retinal pigment epithelial atrophy,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0007793,Granular macular appearance,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0007830,Adult-onset night blindness,Frequent (79-30%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0007984,Electronegative electroretinogram,Frequent (79-30%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0007987,Progressive visual field defects,Frequent (79-30%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0010784,Uterine neoplasm,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0010788,Testicular neoplasm,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0011531,Vitritis,Very rare (<4-1%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0012056,Cutaneous melanoma,Very rare (<4-1%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0012125,Prostate cancer,Very rare (<4-1%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0012189,Hodgkin lymphoma,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0030057,Autoimmune antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0030357,Small cell lung carcinoma,Frequent (79-30%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0030528,Paracentral scotoma,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0030627,Foveal hyporeflective spaces on macular OCT,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0030786,Photopsia,Frequent (79-30%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0100013,Neoplasm of the breast,Frequent (79-30%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0100275,Diffuse cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018912,Orphanet,71505,ORPHA:71505,34,HP:0100522,Thymoma,Occasional (29-5%),TAS,,,,"[PMID:29784239, PMID:31670788, PMID:31712238, PMID:31742740]",y,y +GARD:0018913,Orphanet,71518,ORPHA:71518,10,HP:0000473,Torticollis,Very frequent (99-80%),TAS,,,,"[PMID:12162387, PMID:25644090]",y,y +GARD:0018913,Orphanet,71518,ORPHA:71518,10,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:12162387, PMID:25644090]",y,y +GARD:0018913,Orphanet,71518,ORPHA:71518,10,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:12162387, PMID:25644090]",y,y +GARD:0018913,Orphanet,71518,ORPHA:71518,10,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:12162387, PMID:25644090]",y,y +GARD:0018913,Orphanet,71518,ORPHA:71518,10,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:12162387, PMID:25644090]",y,y +GARD:0018913,Orphanet,71518,ORPHA:71518,10,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:12162387, PMID:25644090]",y,y +GARD:0018913,Orphanet,71518,ORPHA:71518,10,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:12162387, PMID:25644090]",y,y +GARD:0018913,Orphanet,71518,ORPHA:71518,10,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,"[PMID:12162387, PMID:25644090]",y,y +GARD:0018913,Orphanet,71518,ORPHA:71518,10,HP:0002329,Drowsiness,Frequent (79-30%),TAS,,,,"[PMID:12162387, PMID:25644090]",y,y +GARD:0018913,Orphanet,71518,ORPHA:71518,10,HP:0002457,Abnormal head movements,Frequent (79-30%),TAS,,,,"[PMID:12162387, PMID:25644090]",y,y +GARD:0018914,Orphanet,71519,ORPHA:71519,3,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0018914,Orphanet,71519,ORPHA:71519,3,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0018914,Orphanet,71519,ORPHA:71519,3,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0000718,Aggressive behavior,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0000736,Short attention span,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0001388,Joint laxity,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0001593,Maxillary lateral incisor microdontia,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0003127,Hypocalciuria,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0003691,Scapular winging,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0007387,Hypoplastic sweat glands,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0007483,Depigmentation/hyperpigmentation of skin,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0010719,Abnormality of hair texture,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0011065,Conical incisor,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0011074,Localized hypoplasia of dental enamel,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0011125,Abnormality of dermal melanosomes,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0011368,Epidermal thickening,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0012365,Hypophosphaturia,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0012520,Dilation of Virchow-Robin spaces,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0025080,Orthokeratotic hyperkeratosis,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0025160,Abnormal temper tantrums,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0040022,Clinodactyly of the 2nd finger,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0040025,Clinodactyly of the 4th finger,Occasional (29-5%),TAS,,,,[PMID:16368207],y,y +GARD:0018919,Orphanet,73223,ORPHA:73223,39,HP:0100710,Impulsivity,Very frequent (99-80%),TAS,,,,[PMID:16368207],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0000121,Nephrocalcinosis,Frequent (79-30%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0000859,Hyperaldosteronism,Frequent (79-30%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0001644,Dilated cardiomyopathy,Very frequent (99-80%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0001645,Sudden cardiac death,Frequent (79-30%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0001698,Pericardial effusion,Frequent (79-30%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0001960,Hypokalemic metabolic alkalosis,Very frequent (99-80%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0002150,Hypercalciuria,Very frequent (99-80%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0002487,Hyperkinetic movements,Frequent (79-30%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0002917,Hypomagnesemia,Very frequent (99-80%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0003472,Hypocalcemic tetany,Frequent (79-30%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0003527,Hyperprostaglandinuria,Frequent (79-30%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0003739,Myoclonic spasms,Frequent (79-30%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0006559,Hepatic calcification,Frequent (79-30%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0011038,Abnormal renal resorption,Frequent (79-30%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0012608,Hypermagnesiuria,Very frequent (99-80%),TAS,,,,[PMID:15769815],y,y +GARD:0018920,Orphanet,73224,ORPHA:73224,20,HP:0100598,Pulmonary edema,Frequent (79-30%),TAS,,,,[PMID:15769815],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0000239,Large fontanelles,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0000586,Shallow orbits,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0000765,Abnormal thorax morphology,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0000883,Thin ribs,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0000940,Abnormal diaphysis morphology,Frequent (79-30%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0002100,Recurrent aspiration pneumonia,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0003016,Metaphyseal widening,Frequent (79-30%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0003100,Slender long bone,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0003199,Decreased muscle mass,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0003244,Penile hypospadias,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0006462,Generalized bone demineralization,Frequent (79-30%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0008897,Postnatal growth retardation,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0009237,Short 5th finger,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0009875,Triangular shaped distal phalanges of the hand,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0011849,Abnormal bone ossification,Frequent (79-30%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0031207,Hepatic hemangioma,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0100759,Clubbing of fingers,Occasional (29-5%),TAS,,,,[PMID:16086393],y,y +GARD:0018921,Orphanet,73230,ORPHA:73230,36,HP:0100774,Hyperostosis,Frequent (79-30%),TAS,,,,[PMID:16086393],y,y +GARD:0018922,Orphanet,73245,ORPHA:73245,7,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,[PMID:16024908],y,y +GARD:0018922,Orphanet,73245,ORPHA:73245,7,HP:0001305,Dandy-Walker malformation,Very frequent (99-80%),TAS,,,,[PMID:16024908],y,y +GARD:0018922,Orphanet,73245,ORPHA:73245,7,HP:0001320,Cerebellar vermis hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:16024908],y,y +GARD:0018922,Orphanet,73245,ORPHA:73245,7,HP:0002280,Enlarged cisterna magna,Very frequent (99-80%),TAS,,,,[PMID:16024908],y,y +GARD:0018922,Orphanet,73245,ORPHA:73245,7,HP:0002460,Distal muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:16024908],y,y +GARD:0018922,Orphanet,73245,ORPHA:73245,7,HP:0003444,EMG: chronic denervation signs,Very frequent (99-80%),TAS,,,,[PMID:16024908],y,y +GARD:0018922,Orphanet,73245,ORPHA:73245,7,HP:0008944,Distal lower limb amyotrophy,Very frequent (99-80%),TAS,,,,[PMID:16024908],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0000003,Multicystic kidney dysplasia,Very frequent (99-80%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0001601,Laryngomalacia,Frequent (79-30%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0004389,Intestinal pseudo-obstruction,Very frequent (99-80%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0007678,Lacrimal duct stenosis,Frequent (79-30%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0010956,Fetal megacystis,Very frequent (99-80%),TAS,,,,[PMID:16378921],y,y +GARD:0018923,Orphanet,73246,ORPHA:73246,25,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,[PMID:16378921],y,y +GARD:0018925,Orphanet,75378,ORPHA:75378,2,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018925,Orphanet,75378,ORPHA:75378,2,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0000089,Renal hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0000377,Abnormal pinna morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0002208,Coarse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0002299,Brittle hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0004415,Pulmonary artery stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0006817,Aplasia/Hypoplasia of the cerebellar vermis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0011747,Abnormality of the anterior pituitary,Occasional (29-5%),TAS,,,,,y,y +GARD:0018926,Orphanet,75389,ORPHA:75389,24,HP:0011757,Posterior pituitary hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0001015,Prominent superficial veins,Very frequent (99-80%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0001528,Hemihypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0002753,Thin bony cortex,Frequent (79-30%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0002984,Hypoplasia of the radius,Frequent (79-30%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0003022,Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0004936,Venous thrombosis,Frequent (79-30%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0005792,Short humerus,Frequent (79-30%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0006496,Aplasia/hypoplasia involving bones of the upper limbs,Very frequent (99-80%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0009824,Upper limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0010484,Hypertrophy of the upper limb,Frequent (79-30%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0011804,Abnormal muscle physiology,Frequent (79-30%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0012721,Venous malformation,Very frequent (99-80%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0025104,Capillary malformation,Very frequent (99-80%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0040064,Abnormality of limbs,Very frequent (99-80%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0100555,Asymmetric growth,Very frequent (99-80%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018927,Orphanet,75508,ORPHA:75508,21,HP:0100671,Abnormal trabecular bone morphology,Frequent (79-30%),TAS,,,,"[PMID:30482106, PMID:33912256]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0001678,Atrioventricular block,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0001723,Restrictive cardiomyopathy,Very frequent (99-80%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0001907,Thromboembolism,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0003115,Abnormal EKG,Very frequent (99-80%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0004326,Cachexia,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0004395,Malnutrition,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0004749,Atrial flutter,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0004755,Supraventricular tachycardia,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0005110,Atrial fibrillation,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0005135,Abnormal T-wave,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0005145,Coronary artery stenosis,Very rare (<4-1%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0006677,Prolonged QRS complex,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0006685,Endocardial fibrosis,Obligate (100%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0006690,Myocardial calcification,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0011663,Right ventricular cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0011712,Right bundle branch block,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0011713,Left bundle branch block,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0012249,Abnormal ST segment,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0012398,Peripheral edema,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0012664,Reduced ejection fraction,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0012764,Orthopnea,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0025077,Decreased QRS voltage,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0025168,Left ventricular diastolic dysfunction,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0030057,Autoimmune antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0030149,Cardiogenic shock,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0030783,Increased circulating interleukin 6 concentration,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0030848,Elevated jugular venous pressure,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0030950,Pulmonary venous hypertension,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0031295,Left atrial enlargement,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0031595,Abnormal P wave,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0031601,P pulmonale,Very rare (<4-1%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0031650,Abnormal atrioventricular valve physiology,Occasional (29-5%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018928,Orphanet,75565,ORPHA:75565,47,HP:0031664,Systolic heart murmur,Frequent (79-30%),TAS,,,,"[PMID:30020665, PMID:31414216, PMID:31758352]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0001650,Aortic valve stenosis,Very rare (<4-1%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0001654,Abnormal heart valve morphology,Frequent (79-30%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0001659,Aortic regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0001685,Myocardial fibrosis,Occasional (29-5%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0001701,Pericarditis,Very rare (<4-1%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0001712,Left ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0001723,Restrictive cardiomyopathy,Very frequent (99-80%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0001880,Eosinophilia,Very frequent (99-80%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0001977,Abnormal thrombosis,Very frequent (99-80%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0006685,Endocardial fibrosis,Occasional (29-5%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0010872,T-wave inversion,Occasional (29-5%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0011712,Right bundle branch block,Occasional (29-5%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0025168,Left ventricular diastolic dysfunction,Frequent (79-30%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0025523,Abnormal morphology of the chordae tendinae of the mitral valve,Occasional (29-5%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0031295,Left atrial enlargement,Occasional (29-5%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0031323,Myocardial eosinophilic infiltration,Very frequent (99-80%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0031331,Abnormal cardiomyocyte morphology,Frequent (79-30%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0031442,Abnormal tricuspid chordae tendinae morphology,Occasional (29-5%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018929,Orphanet,75566,ORPHA:75566,27,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:30521271, PMID:32999784, PMID:33117933, PMID:33129649]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0002169,Clonus,Frequent (79-30%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0002172,Postural instability,Very frequent (99-80%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0002359,Frequent falls,Very frequent (99-80%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0002362,Shuffling gait,Occasional (29-5%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0007772,Impaired smooth pursuit,Occasional (29-5%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0012452,Restless legs,Occasional (29-5%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018930,Orphanet,75567,ORPHA:75567,21,HP:0100315,Lewy bodies,Occasional (29-5%),TAS,,,,"[PMID:12433266, PMID:16476942, PMID:21135389, PMID:28489770]",y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000289,Broad philtrum,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000294,Low anterior hairline,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0001741,Phimosis,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0001884,Talipes calcaneovalgus,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0002079,Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0002126,Polymicrogyria,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0002269,Abnormality of neuronal migration,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0002282,Gray matter heterotopia,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0002500,Abnormal cerebral white matter morphology,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0002521,Hypsarrhythmia,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0002538,Abnormal cerebral cortex morphology,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0006712,Aplasia/Hypoplasia of the ribs,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0007165,Periventricular heterotopia,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0012745,Short palpebral fissure,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0030048,Colpocephaly,Very frequent (99-80%),TAS,,,,[PMID:24056535],y,y +GARD:0018931,Orphanet,75857,ORPHA:75857,49,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,[PMID:24056535],y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0000202,Oral cleft,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0000587,Abnormality of the optic nerve,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0000891,Cervical ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0002002,Deep philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0002566,Intestinal malrotation,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0007894,Hypopigmentation of the fundus,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0010880,Increased nuchal translucency,Frequent (79-30%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0011340,Incomplete cleft of the upper lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018933,Orphanet,77300,ORPHA:77300,22,HP:0100277,Periauricular skin pits,Frequent (79-30%),TAS,,,,,y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000202,Oral cleft,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000243,Trigonocephaly,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000488,Retinopathy,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000752,Hyperactivity,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0000925,Abnormality of the vertebral column,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0001520,Large for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0002308,Chiari malformation,Frequent (79-30%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0002667,Nephroblastoma,Occasional (29-5%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0002671,Basal cell carcinoma,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0002859,Rhabdomyosarcoma,Occasional (29-5%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0002885,Medulloblastoma,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0005462,Calcification of falx cerebri,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0009894,Thickened ears,Frequent (79-30%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0010442,Polydactyly,Frequent (79-30%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0010603,Odontogenic keratocysts of the jaw,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0010610,Palmar pits,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0010612,Plantar pits,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0010617,Cardiac fibroma,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0010618,Ovarian fibroma,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0011330,Metopic synostosis,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018934,Orphanet,77301,ORPHA:77301,46,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:17019435, PMID:21850767]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0001298,Encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0006808,Cerebral hypomyelination,Frequent (79-30%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0006892,Frontotemporal cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0010841,Multifocal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0010845,EEG with generalized slow activity,Frequent (79-30%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0012446,Decreased CSF 5-methyltetrahydrofolate concentration,Very frequent (99-80%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0020221,Clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0040204,Elevated CSF neopterin level,Frequent (79-30%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018938,Orphanet,79097,ORPHA:79097,38,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,"[PMID:24080039, PMID:25274592]",y,y +GARD:0018940,Orphanet,79099,ORPHA:79099,8,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:26131871, PMID:27274645]",y,y +GARD:0018940,Orphanet,79099,ORPHA:79099,8,HP:0001370,Rheumatoid arthritis,Obligate (100%),TAS,,,,"[PMID:26131871, PMID:27274645]",y,y +GARD:0018940,Orphanet,79099,ORPHA:79099,8,HP:0002923,Rheumatoid factor positive,Frequent (79-30%),TAS,,,,"[PMID:26131871, PMID:27274645]",y,y +GARD:0018940,Orphanet,79099,ORPHA:79099,8,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,"[PMID:26131871, PMID:27274645]",y,y +GARD:0018940,Orphanet,79099,ORPHA:79099,8,HP:0010783,Erythema,Obligate (100%),TAS,,,,"[PMID:26131871, PMID:27274645]",y,y +GARD:0018940,Orphanet,79099,ORPHA:79099,8,HP:0011123,Inflammatory abnormality of the skin,Very frequent (99-80%),TAS,,,,"[PMID:26131871, PMID:27274645]",y,y +GARD:0018940,Orphanet,79099,ORPHA:79099,8,HP:0011227,Elevated circulating C-reactive protein concentration,Very frequent (99-80%),TAS,,,,"[PMID:26131871, PMID:27274645]",y,y +GARD:0018940,Orphanet,79099,ORPHA:79099,8,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,"[PMID:26131871, PMID:27274645]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0001217,Clubbing,Very rare (<4-1%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0001824,Weight loss,Very rare (<4-1%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0002097,Emphysema,Frequent (79-30%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0002105,Hemoptysis,Very rare (<4-1%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0002110,Bronchiectasis,Very rare (<4-1%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0002207,Diffuse reticular or finely nodular infiltrations,Frequent (79-30%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0004469,Chronic bronchitis,Occasional (29-5%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0006510,Chronic pulmonary obstruction,Frequent (79-30%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0006516,Hypersensitivity pneumonitis,Occasional (29-5%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0011947,Respiratory tract infection,Occasional (29-5%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0012418,Hypoxemia,Occasional (29-5%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0025175,Honeycomb lung,Very rare (<4-1%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0025179,Ground-glass opacification,Frequent (79-30%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0030828,Wheezing,Frequent (79-30%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0030877,Reduced FEV1/FVC ratio,Frequent (79-30%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0031246,Nonproductive cough,Occasional (29-5%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0031996,Inspiratory crackles,Frequent (79-30%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0045051,Decreased DLCO,Occasional (29-5%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018942,Orphanet,79127,ORPHA:79127,22,HP:0100749,Chest pain,Very rare (<4-1%),TAS,,,,"[PMID:25011486, PMID:32551095]",y,y +GARD:0018943,Orphanet,79129,ORPHA:79129,3,HP:0000705,Amelogenesis imperfecta,Very frequent (99-80%),TAS,,,,[PMID:8419879],y,y +GARD:0018943,Orphanet,79129,ORPHA:79129,3,HP:0002293,Alopecia of scalp,Very frequent (99-80%),TAS,,,,[PMID:8419879],y,y +GARD:0018943,Orphanet,79129,ORPHA:79129,3,HP:0002552,Trichodysplasia,Very frequent (99-80%),TAS,,,,[PMID:8419879],y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0000602,Ophthalmoplegia,Very frequent (99-80%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0001283,Bulbar palsy,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0001289,Confusion,Very frequent (99-80%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0001291,Abnormal cranial nerve morphology,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0001348,Brisk reflexes,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0002270,Abnormality of the autonomic nervous system,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0002273,Tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0002329,Drowsiness,Very frequent (99-80%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0002445,Tetraplegia,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0003403,EMG: decremental response of compound muscle action potential to repetitive nerve stimulation,Very frequent (99-80%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0003431,Decreased motor nerve conduction velocity,Very frequent (99-80%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0003690,Limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0007131,Acute demyelinating polyneuropathy,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0007209,Facial paralysis,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0007305,CNS demyelination,Very frequent (99-80%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0009916,Anisocoria,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0010831,Impaired proprioception,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0010871,Sensory ataxia,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0011499,Mydriasis,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0011947,Respiratory tract infection,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0012229,CSF pleocytosis,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0012416,Hypercapnia,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0012534,Dysesthesia,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0012696,Abnormal thalamic MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0030057,Autoimmune antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0030319,Weakness of facial musculature,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0031123,Recurrent gastroenteritis,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0032169,Severe infection,Very frequent (99-80%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018944,Orphanet,79138,ORPHA:79138,47,HP:0100786,Hypersomnia,Occasional (29-5%),TAS,,,,"[PMID:32655484, PMID:32934014, PMID:33378029]",y,y +GARD:0018949,Orphanet,79168,ORPHA:79168,10,HP:0000662,Nyctalopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0018949,Orphanet,79168,ORPHA:79168,10,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,,y,y +GARD:0018949,Orphanet,79168,ORPHA:79168,10,HP:0001080,Biliary tract abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018949,Orphanet,79168,ORPHA:79168,10,HP:0001392,Abnormality of the liver,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018949,Orphanet,79168,ORPHA:79168,10,HP:0001396,Cholestasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018949,Orphanet,79168,ORPHA:79168,10,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,,y,y +GARD:0018949,Orphanet,79168,ORPHA:79168,10,HP:0002630,Fat malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018949,Orphanet,79168,ORPHA:79168,10,HP:0002748,Rickets,Frequent (79-30%),TAS,,,,,y,y +GARD:0018949,Orphanet,79168,ORPHA:79168,10,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018949,Orphanet,79168,ORPHA:79168,10,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0000716,Depression,Frequent (79-30%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0000717,Autism,Frequent (79-30%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0001010,Hypopigmentation of the skin,Very frequent (99-80%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0002333,Motor deterioration,Occasional (29-5%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0004923,Hyperphenylalaninemia,Very frequent (99-80%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0010550,Paraplegia,Occasional (29-5%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0100679,Lack of skin elasticity,Occasional (29-5%),TAS,,,,[PMID:20301677],y,y +GARD:0018982,Orphanet,79254,ORPHA:79254,26,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,[PMID:20301677],y,y +GARD:0018988,Orphanet,79357,ORPHA:79357,2,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018988,Orphanet,79357,ORPHA:79357,2,HP:0009775,Amniotic constriction ring,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018989,Orphanet,79358,ORPHA:79358,6,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0018989,Orphanet,79358,ORPHA:79358,6,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0018989,Orphanet,79358,ORPHA:79358,6,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0018989,Orphanet,79358,ORPHA:79358,6,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0018989,Orphanet,79358,ORPHA:79358,6,HP:0004334,Dermal atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0018989,Orphanet,79358,ORPHA:79358,6,HP:0006739,Squamous cell carcinoma of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0019022,Orphanet,79480,ORPHA:79480,14,HP:0000155,Oral ulcer,Occasional (29-5%),TAS,,,,"[PMID:17377385, PMID:26814382, PMID:31396635]",y,y +GARD:0019022,Orphanet,79480,ORPHA:79480,14,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,"[PMID:17377385, PMID:26814382, PMID:31396635]",y,y +GARD:0019022,Orphanet,79480,ORPHA:79480,14,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:17377385, PMID:26814382, PMID:31396635]",y,y +GARD:0019022,Orphanet,79480,ORPHA:79480,14,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,"[PMID:17377385, PMID:26814382, PMID:31396635]",y,y +GARD:0019022,Orphanet,79480,ORPHA:79480,14,HP:0003493,Antinuclear antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:17377385, PMID:26814382, PMID:31396635]",y,y +GARD:0019022,Orphanet,79480,ORPHA:79480,14,HP:0007510,Focal dermal aplasia/hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:17377385, PMID:26814382, PMID:31396635]",y,y +GARD:0019022,Orphanet,79480,ORPHA:79480,14,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:17377385, PMID:26814382, PMID:31396635]",y,y +GARD:0019022,Orphanet,79480,ORPHA:79480,14,HP:0011355,Localized skin lesion,Very frequent (99-80%),TAS,,,,"[PMID:17377385, PMID:26814382, PMID:31396635]",y,y +GARD:0019022,Orphanet,79480,ORPHA:79480,14,HP:0025300,Malar rash,Very frequent (99-80%),TAS,,,,"[PMID:17377385, PMID:26814382, PMID:31396635]",y,y +GARD:0019022,Orphanet,79480,ORPHA:79480,14,HP:0025474,Erythematous plaque,Very frequent (99-80%),TAS,,,,"[PMID:17377385, PMID:26814382, PMID:31396635]",y,y +GARD:0019022,Orphanet,79480,ORPHA:79480,14,HP:0030208,Anti-acetylcholine receptor antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:17377385, PMID:26814382, PMID:31396635]",y,y +GARD:0019022,Orphanet,79480,ORPHA:79480,14,HP:0031540,Linear IgG deposits along the epidermal basement membrane zone,Frequent (79-30%),TAS,,,,"[PMID:17377385, PMID:26814382, PMID:31396635]",y,y +GARD:0019022,Orphanet,79480,ORPHA:79480,14,HP:0100792,Acantholysis,Very frequent (99-80%),TAS,,,,"[PMID:17377385, PMID:26814382, PMID:31396635]",y,y +GARD:0019022,Orphanet,79480,ORPHA:79480,14,HP:0200041,Skin erosion,Occasional (29-5%),TAS,,,,"[PMID:17377385, PMID:26814382, PMID:31396635]",y,y +GARD:0019026,Orphanet,79492,ORPHA:79492,2,HP:0003328,Abnormal hair laboratory examination,Frequent (79-30%),TAS,,,,[PMID:10882940],y,y +GARD:0019026,Orphanet,79492,ORPHA:79492,2,HP:0003329,Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes,Obligate (100%),TAS,,,,[PMID:10882940],y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0000613,Photophobia,Very rare (<4-1%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0000967,Petechiae,Occasional (29-5%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0002633,Vasculitis,Very rare (<4-1%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0002878,Respiratory failure,Very rare (<4-1%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0003237,Increased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0003496,Increased circulating IgM level,Frequent (79-30%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0012733,Macule,Frequent (79-30%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0025289,Cervical lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0032156,Skin detachment,Frequent (79-30%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0040186,Maculopapular exanthema,Frequent (79-30%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0040211,Abnormal skin morphology of the palm,Very frequent (99-80%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0100872,Abnormality of the plantar skin of foot,Very frequent (99-80%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019031,Orphanet,83313,ORPHA:83313,26,HP:0200036,Skin nodule,Frequent (79-30%),TAS,,,,"[PMID:27380385, PMID:29855412]",y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0002315,Headache,Frequent (79-30%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0004372,Reduced consciousness/confusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0012122,Anterior uveitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0012733,Macule,Frequent (79-30%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0019035,Orphanet,83317,ORPHA:83317,27,HP:0100758,Gangrene,Frequent (79-30%),TAS,,,,,y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0000230,Gingivitis,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0000685,Hypoplasia of teeth,Occasional (29-5%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0000694,Odontodysplasia,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0000706,Eruption failure,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0001572,Macrodontia,Occasional (29-5%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0003771,Pulp calcification,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0006283,Multiple unerupted teeth,Occasional (29-5%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0006286,Yellow-brown discoloration of the teeth,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0006336,Short dental root,Occasional (29-5%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0006479,Abnormal dental pulp morphology,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0006481,Abnormality of primary teeth,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0009085,Alveolar ridge overgrowth,Occasional (29-5%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0009722,Dental enamel pits,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0010299,Abnormal dentin morphology,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0011073,Abnormality of dental color,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0011084,Hypocalcification of dental enamel,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0030757,Tooth abscess,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0040264,Jaw pain,Frequent (79-30%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019036,Orphanet,83450,ORPHA:83450,24,HP:0200025,Mandibular pain,Occasional (29-5%),TAS,,,,"[PMID:22762183, PMID:30900210, PMID:31337932]",y,y +GARD:0019037,Orphanet,83453,ORPHA:83453,13,HP:0000055,Abnormality of female external genitalia,Frequent (79-30%),TAS,,,,"[PMID:20373919, PMID:21763554]",y,y +GARD:0019037,Orphanet,83453,ORPHA:83453,13,HP:0000155,Oral ulcer,Frequent (79-30%),TAS,,,,"[PMID:20373919, PMID:21763554]",y,y +GARD:0019037,Orphanet,83453,ORPHA:83453,13,HP:0000230,Gingivitis,Obligate (100%),TAS,,,,"[PMID:20373919, PMID:21763554]",y,y +GARD:0019037,Orphanet,83453,ORPHA:83453,13,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:20373919, PMID:21763554]",y,y +GARD:0019037,Orphanet,83453,ORPHA:83453,13,HP:0001036,Parakeratosis,Frequent (79-30%),TAS,,,,"[PMID:20373919, PMID:21763554]",y,y +GARD:0019037,Orphanet,83453,ORPHA:83453,13,HP:0001807,Ridged nail,Occasional (29-5%),TAS,,,,"[PMID:20373919, PMID:21763554]",y,y +GARD:0019037,Orphanet,83453,ORPHA:83453,13,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:20373919, PMID:21763554]",y,y +GARD:0019037,Orphanet,83453,ORPHA:83453,13,HP:0011118,Abnormality of tumor necrosis factor secretion,Frequent (79-30%),TAS,,,,"[PMID:20373919, PMID:21763554]",y,y +GARD:0019037,Orphanet,83453,ORPHA:83453,13,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:20373919, PMID:21763554]",y,y +GARD:0019037,Orphanet,83453,ORPHA:83453,13,HP:0012537,Food intolerance,Frequent (79-30%),TAS,,,,"[PMID:20373919, PMID:21763554]",y,y +GARD:0019037,Orphanet,83453,ORPHA:83453,13,HP:0025092,Epidermal acanthosis,Frequent (79-30%),TAS,,,,"[PMID:20373919, PMID:21763554]",y,y +GARD:0019037,Orphanet,83453,ORPHA:83453,13,HP:0100725,Lichenification,Frequent (79-30%),TAS,,,,"[PMID:20373919, PMID:21763554]",y,y +GARD:0019037,Orphanet,83453,ORPHA:83453,13,HP:0200041,Skin erosion,Frequent (79-30%),TAS,,,,"[PMID:20373919, PMID:21763554]",y,y +GARD:0019038,Orphanet,83465,ORPHA:83465,5,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0019038,Orphanet,83465,ORPHA:83465,5,HP:0000738,Hallucinations,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019038,Orphanet,83465,ORPHA:83465,5,HP:0001262,Excessive daytime somnolence,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019038,Orphanet,83465,ORPHA:83465,5,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019038,Orphanet,83465,ORPHA:83465,5,HP:0100785,Insomnia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0002143,Abnormality of the spinal cord,Very rare (<4-1%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0002696,Abnormal parietal bone morphology,Very rare (<4-1%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0002756,Pathologic fracture,Frequent (79-30%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0002867,Abnormal ilium morphology,Very rare (<4-1%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0002992,Abnormality of tibia morphology,Occasional (29-5%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0003172,Abnormality of the pubic bone,Very rare (<4-1%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0003312,Abnormal form of the vertebral bodies,Very rare (<4-1%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0003418,Back pain,Very rare (<4-1%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0003926,Abnormality of the humeral diaphysis,Frequent (79-30%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0003979,Lytic defects of the radius,Very rare (<4-1%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0006431,Proximal femoral metaphyseal abnormality,Frequent (79-30%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0012064,Unicameral bone cyst,Very frequent (99-80%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0012428,Prominent calcaneus,Occasional (29-5%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0100253,Abnormality of the medullary cavity of the long bones,Frequent (79-30%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019039,Orphanet,83468,ORPHA:83468,17,HP:0100748,Muscular edema,Very rare (<4-1%),TAS,,,,"[PMID:27075249, PMID:27554346, PMID:30691312, PMID:30726590, PMID:30969659, PMID:30969671]",y,y +GARD:0019044,Orphanet,83619,ORPHA:83619,8,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0019044,Orphanet,83619,ORPHA:83619,8,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0019044,Orphanet,83619,ORPHA:83619,8,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,,y,y +GARD:0019044,Orphanet,83619,ORPHA:83619,8,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0019044,Orphanet,83619,ORPHA:83619,8,HP:0000602,Ophthalmoplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0019044,Orphanet,83619,ORPHA:83619,8,HP:0004467,Preauricular pit,Frequent (79-30%),TAS,,,,,y,y +GARD:0019044,Orphanet,83619,ORPHA:83619,8,HP:0011272,Underdeveloped tragus,Occasional (29-5%),TAS,,,,,y,y +GARD:0019044,Orphanet,83619,ORPHA:83619,8,HP:0011338,Abnormality of mouth shape,Frequent (79-30%),TAS,,,,,y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0000048,Bifid scrotum,Frequent (79-30%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0000059,Hypoplastic labia majora,Frequent (79-30%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0000075,Renal duplication,Frequent (79-30%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0000104,Renal agenesis,Frequent (79-30%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0000136,Bifid uterus,Frequent (79-30%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0001028,Hemangioma,Very frequent (99-80%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0002836,Bladder exstrophy,Frequent (79-30%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0004397,Ectopic anus,Frequent (79-30%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019045,Orphanet,83628,ORPHA:83628,17,HP:0010609,Skin tags,Frequent (79-30%),TAS,,,,"[PMID:16847205, PMID:23278237]",y,y +GARD:0019047,Orphanet,84085,ORPHA:84085,7,HP:0000010,Recurrent urinary tract infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0019047,Orphanet,84085,ORPHA:84085,7,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0019047,Orphanet,84085,ORPHA:84085,7,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0019047,Orphanet,84085,ORPHA:84085,7,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0019047,Orphanet,84085,ORPHA:84085,7,HP:0000805,Enuresis,Frequent (79-30%),TAS,,,,,y,y +GARD:0019047,Orphanet,84085,ORPHA:84085,7,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0019047,Orphanet,84085,ORPHA:84085,7,HP:0002607,Bowel incontinence,Frequent (79-30%),TAS,,,,,y,y +GARD:0019049,Orphanet,85168,ORPHA:85168,5,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,[PMID:7593576],y,y +GARD:0019049,Orphanet,85168,ORPHA:85168,5,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,[PMID:7593576],y,y +GARD:0019049,Orphanet,85168,ORPHA:85168,5,HP:0002176,Spinal cord compression,Very frequent (99-80%),TAS,,,,[PMID:7593576],y,y +GARD:0019049,Orphanet,85168,ORPHA:85168,5,HP:0004439,Craniofacial dysostosis,Very frequent (99-80%),TAS,,,,[PMID:7593576],y,y +GARD:0019049,Orphanet,85168,ORPHA:85168,5,HP:0010230,Cone-shaped epiphyses of the phalanges of the hand,Very frequent (99-80%),TAS,,,,[PMID:7593576],y,y +GARD:0019050,Orphanet,85175,ORPHA:85175,4,HP:0002703,Abnormality of skull ossification,Very frequent (99-80%),TAS,,,,[PMID:9643294],y,y +GARD:0019050,Orphanet,85175,ORPHA:85175,4,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,[PMID:9643294],y,y +GARD:0019050,Orphanet,85175,ORPHA:85175,4,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,[PMID:9643294],y,y +GARD:0019050,Orphanet,85175,ORPHA:85175,4,HP:0010655,Epiphyseal stippling,Very frequent (99-80%),TAS,,,,[PMID:9643294],y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0002657,Spondylometaphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0002761,Generalized joint laxity,Very frequent (99-80%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0002879,Anisospondyly,Frequent (79-30%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0002991,Abnormality of fibula morphology,Frequent (79-30%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0003037,Enlarged joints,Very frequent (99-80%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0003422,Vertebral segmentation defect,Very frequent (99-80%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0004039,Abnormality of ulnar metaphysis,Frequent (79-30%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0005701,Multiple enchondromatosis,Very frequent (99-80%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0005868,Metaphyseal enchondromatosis,Frequent (79-30%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0012221,Pretibial blistering,Very frequent (99-80%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0100559,Lower limb asymmetry,Very frequent (99-80%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0100777,Exostoses,Very frequent (99-80%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019051,Orphanet,85198,ORPHA:85198,23,HP:0200041,Skin erosion,Very frequent (99-80%),TAS,,,,"[PMID:24357493, PMID:26250472]",y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0000336,Prominent supraorbital ridges,Frequent (79-30%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0000998,Hypertrichosis,Very frequent (99-80%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0002344,Progressive neurologic deterioration,Very frequent (99-80%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0005487,Prominent metopic ridge,Very frequent (99-80%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,[PMID:10398239],y,y +GARD:0019053,Orphanet,85317,ORPHA:85317,21,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,[PMID:10398239],y,y +GARD:0019054,Orphanet,85319,ORPHA:85319,8,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,[PMID:8574418],y,y +GARD:0019054,Orphanet,85319,ORPHA:85319,8,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:8574418],y,y +GARD:0019054,Orphanet,85319,ORPHA:85319,8,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:8574418],y,y +GARD:0019054,Orphanet,85319,ORPHA:85319,8,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:8574418],y,y +GARD:0019054,Orphanet,85319,ORPHA:85319,8,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:8574418],y,y +GARD:0019054,Orphanet,85319,ORPHA:85319,8,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,[PMID:8574418],y,y +GARD:0019054,Orphanet,85319,ORPHA:85319,8,HP:0005876,Progressive flexion contractures,Frequent (79-30%),TAS,,,,[PMID:8574418],y,y +GARD:0019054,Orphanet,85319,ORPHA:85319,8,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,[PMID:8574418],y,y +GARD:0019055,Orphanet,85320,ORPHA:85320,3,HP:0000053,Macroorchidism,Very frequent (99-80%),TAS,,,,[PMID:9863601],y,y +GARD:0019055,Orphanet,85320,ORPHA:85320,3,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,[PMID:9863601],y,y +GARD:0019055,Orphanet,85320,ORPHA:85320,3,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,[PMID:9863601],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0000034,Hydrocele testis,Occasional (29-5%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0002510,Spastic tetraplegia,Occasional (29-5%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,[PMID:9222958],y,y +GARD:0019056,Orphanet,85322,ORPHA:85322,18,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:9222958],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0000218,High palate,Occasional (29-5%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0000519,Developmental cataract,Frequent (79-30%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0002191,Progressive spasticity,Frequent (79-30%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:8958326],y,y +GARD:0019057,Orphanet,85323,ORPHA:85323,16,HP:0009004,Hypoplasia of the musculature,Frequent (79-30%),TAS,,,,[PMID:8958326],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0000098,Tall stature,Frequent (79-30%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0000391,Thickened helices,Very frequent (99-80%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0001176,Large hands,Frequent (79-30%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0001833,Long foot,Frequent (79-30%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0009928,Thick nasal alae,Very frequent (99-80%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0010761,Broad columella,Very frequent (99-80%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:9192265],y,y +GARD:0019058,Orphanet,85325,ORPHA:85325,22,HP:0100540,Palpebral edema,Very frequent (99-80%),TAS,,,,[PMID:9192265],y,y +GARD:0019059,Orphanet,85326,ORPHA:85326,12,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,[PMID:1877628],y,y +GARD:0019059,Orphanet,85326,ORPHA:85326,12,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:1877628],y,y +GARD:0019059,Orphanet,85326,ORPHA:85326,12,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,[PMID:1877628],y,y +GARD:0019059,Orphanet,85326,ORPHA:85326,12,HP:0000349,Widow's peak,Frequent (79-30%),TAS,,,,[PMID:1877628],y,y +GARD:0019059,Orphanet,85326,ORPHA:85326,12,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,[PMID:1877628],y,y +GARD:0019059,Orphanet,85326,ORPHA:85326,12,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,[PMID:1877628],y,y +GARD:0019059,Orphanet,85326,ORPHA:85326,12,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:1877628],y,y +GARD:0019059,Orphanet,85326,ORPHA:85326,12,HP:0002003,Large forehead,Frequent (79-30%),TAS,,,,[PMID:1877628],y,y +GARD:0019059,Orphanet,85326,ORPHA:85326,12,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:1877628],y,y +GARD:0019059,Orphanet,85326,ORPHA:85326,12,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,[PMID:1877628],y,y +GARD:0019059,Orphanet,85326,ORPHA:85326,12,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:1877628],y,y +GARD:0019059,Orphanet,85326,ORPHA:85326,12,HP:0005281,Hypoplastic nasal bridge,Frequent (79-30%),TAS,,,,[PMID:1877628],y,y +GARD:0019060,Orphanet,85327,ORPHA:85327,12,HP:0000053,Macroorchidism,Frequent (79-30%),TAS,,,,[PMID:2018059],y,y +GARD:0019060,Orphanet,85327,ORPHA:85327,12,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,[PMID:2018059],y,y +GARD:0019060,Orphanet,85327,ORPHA:85327,12,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,[PMID:2018059],y,y +GARD:0019060,Orphanet,85327,ORPHA:85327,12,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,[PMID:2018059],y,y +GARD:0019060,Orphanet,85327,ORPHA:85327,12,HP:0000845,Elevated circulating growth hormone concentration,Frequent (79-30%),TAS,,,,[PMID:2018059],y,y +GARD:0019060,Orphanet,85327,ORPHA:85327,12,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:2018059],y,y +GARD:0019060,Orphanet,85327,ORPHA:85327,12,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,[PMID:2018059],y,y +GARD:0019060,Orphanet,85327,ORPHA:85327,12,HP:0003189,Long nose,Frequent (79-30%),TAS,,,,[PMID:2018059],y,y +GARD:0019060,Orphanet,85327,ORPHA:85327,12,HP:0003564,Folate-dependent fragile site at Xq28,Excluded (0%),TAS,,,,[PMID:2018059],y,y +GARD:0019060,Orphanet,85327,ORPHA:85327,12,HP:0007361,Abnormal pons morphology,Frequent (79-30%),TAS,,,,[PMID:2018059],y,y +GARD:0019060,Orphanet,85327,ORPHA:85327,12,HP:0009745,Spinal arachnoid cyst,Frequent (79-30%),TAS,,,,[PMID:2018059],y,y +GARD:0019060,Orphanet,85327,ORPHA:85327,12,HP:0030353,Decreased serum insulin-like growth factor 1,Frequent (79-30%),TAS,,,,[PMID:2018059],y,y +GARD:0019061,Orphanet,85334,ORPHA:85334,10,HP:0000608,Macular degeneration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019061,Orphanet,85334,ORPHA:85334,10,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019061,Orphanet,85334,ORPHA:85334,10,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019061,Orphanet,85334,ORPHA:85334,10,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019061,Orphanet,85334,ORPHA:85334,10,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019061,Orphanet,85334,ORPHA:85334,10,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019061,Orphanet,85334,ORPHA:85334,10,HP:0001522,Death in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019061,Orphanet,85334,ORPHA:85334,10,HP:0002123,Generalized myoclonic seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019061,Orphanet,85334,ORPHA:85334,10,HP:0006538,Recurrent bronchopulmonary infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019061,Orphanet,85334,ORPHA:85334,10,HP:0200134,Epileptic encephalopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019062,Orphanet,85336,ORPHA:85336,6,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,[PMID:10051014],y,y +GARD:0019062,Orphanet,85336,ORPHA:85336,6,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:10051014],y,y +GARD:0019062,Orphanet,85336,ORPHA:85336,6,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,[PMID:10051014],y,y +GARD:0019062,Orphanet,85336,ORPHA:85336,6,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:10051014],y,y +GARD:0019062,Orphanet,85336,ORPHA:85336,6,HP:0001522,Death in infancy,Very frequent (99-80%),TAS,,,,[PMID:10051014],y,y +GARD:0019062,Orphanet,85336,ORPHA:85336,6,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:10051014],y,y +GARD:0019063,Orphanet,85338,ORPHA:85338,5,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:1605232],y,y +GARD:0019063,Orphanet,85338,ORPHA:85338,5,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMID:1605232],y,y +GARD:0019063,Orphanet,85338,ORPHA:85338,5,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:1605232],y,y +GARD:0019063,Orphanet,85338,ORPHA:85338,5,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,[PMID:1605232],y,y +GARD:0019063,Orphanet,85338,ORPHA:85338,5,HP:0002186,Apraxia,Very frequent (99-80%),TAS,,,,[PMID:1605232],y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0002813,Abnormality of limb bone morphology,Frequent (79-30%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0002923,Rheumatoid factor positive,Very frequent (99-80%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0005187,Progressive joint destruction,Frequent (79-30%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0005764,Polyarticular arthritis,Very frequent (99-80%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0006252,Interphalangeal joint erosions,Frequent (79-30%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0010588,Premature epimetaphyseal fusion,Occasional (29-5%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0030782,Abnormal circulating interleukin concentration,Frequent (79-30%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0040311,Symmetric polyarthritis,Frequent (79-30%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0100555,Asymmetric growth,Occasional (29-5%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019064,Orphanet,85435,ORPHA:85435,18,HP:0100769,Synovitis,Frequent (79-30%),TAS,,,,"[PMID:27785924, PMID:29426059, PMID:29582130, PMID:32119492]",y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0001227,Abnormality of the thenar eminence,Frequent (79-30%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0002242,Abnormal intestine morphology,Occasional (29-5%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0002273,Tetraparesis,Very rare (<4-1%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0002445,Tetraplegia,Very rare (<4-1%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0003040,Arthropathy,Occasional (29-5%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0003043,Abnormal shoulder morphology,Very rare (<4-1%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0003447,Axonal loss,Frequent (79-30%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0004389,Intestinal pseudo-obstruction,Very rare (<4-1%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0005106,Abnormality of the vertebral endplates,Occasional (29-5%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0005108,Abnormal intervertebral disk morphology,Occasional (29-5%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0007078,Decreased amplitude of sensory action potentials,Frequent (79-30%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0012062,Bone cyst,Frequent (79-30%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0012185,Constrictive median neuropathy,Frequent (79-30%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0012531,Pain,Frequent (79-30%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0012534,Dysesthesia,Frequent (79-30%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0030833,Neck pain,Very frequent (99-80%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0030834,Shoulder pain,Very frequent (99-80%),TAS,,,,[PMID:27994478],y,y +GARD:0019065,Orphanet,85446,ORPHA:85446,26,HP:0100261,Abnormal tendon morphology,Very rare (<4-1%),TAS,,,,[PMID:27994478],y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0000573,Retinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0001017,Anemic pallor,Frequent (79-30%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0004808,Acute myeloid leukemia,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0005561,Abnormality of bone marrow cell morphology,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0010876,Abnormal circulating protein concentration,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0010972,Anemia of inadequate production,Very frequent (99-80%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0012116,Abnormal circulating albumin concentration,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0012136,Dysplastic granulopoesis,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0012148,Multiple lineage myelodysplasia,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0012150,Single lineage myelodysplasia,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0025065,Abnormal mean corpuscular volume,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019070,Orphanet,86839,ORPHA:86839,22,HP:0031035,Chronic infection,Occasional (29-5%),TAS,,,,"[PMID:22568928, PMID:24958999, PMID:27813084, PMID:28260960]",y,y +GARD:0019079,Orphanet,86893,ORPHA:86893,14,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0019079,Orphanet,86893,ORPHA:86893,14,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,,y,y +GARD:0019079,Orphanet,86893,ORPHA:86893,14,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0019079,Orphanet,86893,ORPHA:86893,14,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0019079,Orphanet,86893,ORPHA:86893,14,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0019079,Orphanet,86893,ORPHA:86893,14,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0019079,Orphanet,86893,ORPHA:86893,14,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0019079,Orphanet,86893,ORPHA:86893,14,HP:0002665,Lymphoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019079,Orphanet,86893,ORPHA:86893,14,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019079,Orphanet,86893,ORPHA:86893,14,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019079,Orphanet,86893,ORPHA:86893,14,HP:0003002,Breast carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0019079,Orphanet,86893,ORPHA:86893,14,HP:0005561,Abnormality of bone marrow cell morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0019079,Orphanet,86893,ORPHA:86893,14,HP:0012191,B-cell lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0019079,Orphanet,86893,ORPHA:86893,14,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0001112,Leber optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0001326,EEG with irregular generalized spike and wave complexes,Very frequent (99-80%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0002069,Bilateral tonic-clonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0002123,Generalized myoclonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0002275,Poor motor coordination,Frequent (79-30%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0002301,Hemiplegia,Very rare (<4-1%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0007057,Poor hand-eye coordination,Frequent (79-30%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0007207,Photosensitive tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019086,Orphanet,86909,ORPHA:86909,21,HP:0010862,Delayed fine motor development,Occasional (29-5%),TAS,,,,"[PMID:15508932, PMID:18639309, PMID:22342656, PMID:22819072, PMID:23889608, PMID:24469935, PMID:24691296, PMID:25564312, PMID:25894286, PMID:27039230]",y,y +GARD:0019089,Orphanet,86918,ORPHA:86918,2,HP:0001063,Acrocyanosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019089,Orphanet,86918,ORPHA:86918,2,HP:0007447,Diffuse palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019091,Orphanet,87884,ORPHA:87884,13,HP:0000399,Prelingual sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:16840903, PMID:20301388]",y,y +GARD:0019091,Orphanet,87884,ORPHA:87884,13,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:16840903, PMID:20301388]",y,y +GARD:0019091,Orphanet,87884,ORPHA:87884,13,HP:0000408,Progressive sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:16840903, PMID:20301388]",y,y +GARD:0019091,Orphanet,87884,ORPHA:87884,13,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:16840903, PMID:20301388]",y,y +GARD:0019091,Orphanet,87884,ORPHA:87884,13,HP:0001963,Abnormal speech discrimination,Frequent (79-30%),TAS,,,,"[PMID:16840903, PMID:20301388]",y,y +GARD:0019091,Orphanet,87884,ORPHA:87884,13,HP:0005101,High-frequency hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:16840903, PMID:20301388]",y,y +GARD:0019091,Orphanet,87884,ORPHA:87884,13,HP:0007670,Abnormal vestibulo-ocular reflex,Occasional (29-5%),TAS,,,,"[PMID:16840903, PMID:20301388]",y,y +GARD:0019091,Orphanet,87884,ORPHA:87884,13,HP:0008573,Low-frequency sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:16840903, PMID:20301388]",y,y +GARD:0019091,Orphanet,87884,ORPHA:87884,13,HP:0008596,Postlingual sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:16840903, PMID:20301388]",y,y +GARD:0019091,Orphanet,87884,ORPHA:87884,13,HP:0011474,Childhood onset sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:16840903, PMID:20301388]",y,y +GARD:0019091,Orphanet,87884,ORPHA:87884,13,HP:0011476,Profound sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:16840903, PMID:20301388]",y,y +GARD:0019091,Orphanet,87884,ORPHA:87884,13,HP:0012713,Moderate hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:16840903, PMID:20301388]",y,y +GARD:0019091,Orphanet,87884,ORPHA:87884,13,HP:0012714,Severe hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:16840903, PMID:20301388]",y,y +GARD:0019092,Orphanet,88643,ORPHA:88643,7,HP:0000851,Congenital hypothyroidism,Frequent (79-30%),TAS,,,,[PMID:17163533],y,y +GARD:0019092,Orphanet,88643,ORPHA:88643,7,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:17163533],y,y +GARD:0019092,Orphanet,88643,ORPHA:88643,7,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,[PMID:17163533],y,y +GARD:0019092,Orphanet,88643,ORPHA:88643,7,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,[PMID:17163533],y,y +GARD:0019092,Orphanet,88643,ORPHA:88643,7,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,[PMID:17163533],y,y +GARD:0019092,Orphanet,88643,ORPHA:88643,7,HP:0002583,Colitis,Frequent (79-30%),TAS,,,,[PMID:17163533],y,y +GARD:0019092,Orphanet,88643,ORPHA:88643,7,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,[PMID:17163533],y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0001080,Biliary tract abnormality,Occasional (29-5%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0002896,Neoplasm of the liver,Obligate (100%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0006254,Elevated alpha-fetoprotein,Excluded (0%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0025406,Asthenia,Occasional (29-5%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0030057,Autoimmune antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0031140,Abnormal liver sonography,Obligate (100%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0031956,Elevated circulating aspartate aminotransferase concentration,Very rare (<4-1%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0031964,Elevated circulating alanine aminotransferase concentration,Very rare (<4-1%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019098,Orphanet,90003,ORPHA:90003,17,HP:0410369,Increased hepatitis B virus antibody level,Occasional (29-5%),TAS,,,,"[PMID:25663462, PMID:29291783]",y,y +GARD:0019101,Orphanet,90036,ORPHA:90036,14,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019101,Orphanet,90036,ORPHA:90036,14,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,,y,y +GARD:0019101,Orphanet,90036,ORPHA:90036,14,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019101,Orphanet,90036,ORPHA:90036,14,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,,y,y +GARD:0019101,Orphanet,90036,ORPHA:90036,14,HP:0001890,Autoimmune hemolytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019101,Orphanet,90036,ORPHA:90036,14,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0019101,Orphanet,90036,ORPHA:90036,14,HP:0002665,Lymphoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0019101,Orphanet,90036,ORPHA:90036,14,HP:0002725,Systemic lupus erythematosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0019101,Orphanet,90036,ORPHA:90036,14,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0019101,Orphanet,90036,ORPHA:90036,14,HP:0002875,Exertional dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019101,Orphanet,90036,ORPHA:90036,14,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019101,Orphanet,90036,ORPHA:90036,14,HP:0003573,Increased total bilirubin,Occasional (29-5%),TAS,,,,,y,y +GARD:0019101,Orphanet,90036,ORPHA:90036,14,HP:0012086,Abnormal urinary color,Occasional (29-5%),TAS,,,,,y,y +GARD:0019101,Orphanet,90036,ORPHA:90036,14,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019102,Orphanet,90037,ORPHA:90037,11,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019102,Orphanet,90037,ORPHA:90037,11,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019102,Orphanet,90037,ORPHA:90037,11,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0019102,Orphanet,90037,ORPHA:90037,11,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,,y,y +GARD:0019102,Orphanet,90037,ORPHA:90037,11,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0019102,Orphanet,90037,ORPHA:90037,11,HP:0001890,Autoimmune hemolytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019102,Orphanet,90037,ORPHA:90037,11,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019102,Orphanet,90037,ORPHA:90037,11,HP:0002875,Exertional dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019102,Orphanet,90037,ORPHA:90037,11,HP:0003573,Increased total bilirubin,Occasional (29-5%),TAS,,,,,y,y +GARD:0019102,Orphanet,90037,ORPHA:90037,11,HP:0012086,Abnormal urinary color,Occasional (29-5%),TAS,,,,,y,y +GARD:0019102,Orphanet,90037,ORPHA:90037,11,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019103,Orphanet,90039,ORPHA:90039,14,HP:0000980,Pallor,Very rare (<4-1%),TAS,,,,"[PMID:21194265, PMID:26119666, PMID:26405395, PMID:33884322]",y,y +GARD:0019103,Orphanet,90039,ORPHA:90039,14,HP:0001744,Splenomegaly,Very rare (<4-1%),TAS,,,,"[PMID:21194265, PMID:26119666, PMID:26405395, PMID:33884322]",y,y +GARD:0019103,Orphanet,90039,ORPHA:90039,14,HP:0001903,Anemia,Very rare (<4-1%),TAS,,,,"[PMID:21194265, PMID:26119666, PMID:26405395, PMID:33884322]",y,y +GARD:0019103,Orphanet,90039,ORPHA:90039,14,HP:0002027,Abdominal pain,Very rare (<4-1%),TAS,,,,"[PMID:21194265, PMID:26119666, PMID:26405395, PMID:33884322]",y,y +GARD:0019103,Orphanet,90039,ORPHA:90039,14,HP:0005560,Imbalanced hemoglobin synthesis,Very frequent (99-80%),TAS,,,,"[PMID:21194265, PMID:26119666, PMID:26405395, PMID:33884322]",y,y +GARD:0019103,Orphanet,90039,ORPHA:90039,14,HP:0011902,Abnormal hemoglobin,Very frequent (99-80%),TAS,,,,"[PMID:21194265, PMID:26119666, PMID:26405395, PMID:33884322]",y,y +GARD:0019103,Orphanet,90039,ORPHA:90039,14,HP:0011905,Reduced hemoglobin A,Frequent (79-30%),TAS,,,,"[PMID:21194265, PMID:26119666, PMID:26405395, PMID:33884322]",y,y +GARD:0019103,Orphanet,90039,ORPHA:90039,14,HP:0011906,Reduced beta/alpha synthesis ratio,Frequent (79-30%),TAS,,,,"[PMID:21194265, PMID:26119666, PMID:26405395, PMID:33884322]",y,y +GARD:0019103,Orphanet,90039,ORPHA:90039,14,HP:0011907,Reduced alpha/beta synthesis ratio,Frequent (79-30%),TAS,,,,"[PMID:21194265, PMID:26119666, PMID:26405395, PMID:33884322]",y,y +GARD:0019103,Orphanet,90039,ORPHA:90039,14,HP:0025066,Decreased mean corpuscular volume,Frequent (79-30%),TAS,,,,"[PMID:21194265, PMID:26119666, PMID:26405395, PMID:33884322]",y,y +GARD:0019103,Orphanet,90039,ORPHA:90039,14,HP:0025547,Decreased mean corpuscular hemoglobin concentration,Frequent (79-30%),TAS,,,,"[PMID:21194265, PMID:26119666, PMID:26405395, PMID:33884322]",y,y +GARD:0019103,Orphanet,90039,ORPHA:90039,14,HP:0030058,Sickled erythrocytes,Occasional (29-5%),TAS,,,,"[PMID:21194265, PMID:26119666, PMID:26405395, PMID:33884322]",y,y +GARD:0019103,Orphanet,90039,ORPHA:90039,14,HP:0045047,HbS hemoglobin,Occasional (29-5%),TAS,,,,"[PMID:21194265, PMID:26119666, PMID:26405395, PMID:33884322]",y,y +GARD:0019103,Orphanet,90039,ORPHA:90039,14,HP:0045048,Increased HbA2 hemoglobin,Frequent (79-30%),TAS,,,,"[PMID:21194265, PMID:26119666, PMID:26405395, PMID:33884322]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0000121,Nephrocalcinosis,Very rare (<4-1%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0000819,Diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0000848,Increased circulating renin level,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0001050,Plethora,Very frequent (99-80%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0001082,Cholecystitis,Occasional (29-5%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0001677,Coronary artery atherosclerosis,Occasional (29-5%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0001744,Splenomegaly,Excluded (0%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0001899,Increased hematocrit,Very frequent (99-80%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0001997,Gout,Very rare (<4-1%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0002149,Hyperuricemia,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0002152,Hyperproteinemia,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0003124,Hypercholesterolemia,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0004398,Peptic ulcer,Occasional (29-5%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0004950,Peripheral arterial stenosis,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0005117,Elevated diastolic blood pressure,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0011106,Hypovolemia,Very frequent (99-80%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0012605,Hypernatriuria,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0020059,Increased red blood cell count,Very frequent (99-80%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0025502,Overweight,Frequent (79-30%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0025548,Increased mean corpuscular hemoglobin concentration,Very frequent (99-80%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0025619,Elevated plasma cell count,Very frequent (99-80%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0100724,Hypercoagulability,Very frequent (99-80%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0100785,Insomnia,Occasional (29-5%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019104,Orphanet,90041,ORPHA:90041,36,HP:0410019,Epigastric pain,Occasional (29-5%),TAS,,,,"[PMID:29847483, PMID:3327561, PMID:686487]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0000236,Abnormality of the anterior fontanelle,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0000967,Petechiae,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001410,Decreased liver function,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001649,Tachycardia,Very frequent (99-80%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0002579,Gastrointestinal dysmotility,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0002686,Prenatal maternal abnormality,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0002795,Abnormal respiratory system physiology,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0004387,Enterocolitis,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0004713,Reversible renal failure,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0005968,Temperature instability,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0011410,Caesarian section,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0011880,Acute disseminated intravascular coagulation,Very rare (<4-1%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0012719,Functional abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0030783,Increased circulating interleukin 6 concentration,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0030863,Nasal flaring,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0031602,Abnormal mucociliary clearance,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0031696,Disseminated viral infection,Very rare (<4-1%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0032169,Severe infection,Frequent (79-30%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0040187,Neonatal sepsis,Very frequent (99-80%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019105,Orphanet,90051,ORPHA:90051,49,HP:0100520,Oliguria,Occasional (29-5%),TAS,,,,"[PMID:27589549, PMID:28434651, PMID:28709162, PMID:29382648, PMID:30207217]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0000152,Abnormality of head or neck,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0000951,Abnormality of the skin,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0002091,Restrictive ventilatory defect,Very rare (<4-1%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0002105,Hemoptysis,Frequent (79-30%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0002113,Pulmonary infiltrates,Very frequent (99-80%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0002206,Pulmonary fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0002923,Rheumatoid factor positive,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0003259,Elevated circulating creatinine concentration,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0003453,Antineutrophil antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0003613,Antiphospholipid antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0005421,Decreased serum complement C3,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0006536,Airway obstruction,Very rare (<4-1%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0012418,Hypoxemia,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0025174,Irregular septal thickening on pulmonary HRCT,Very rare (<4-1%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0025179,Ground-glass opacification,Frequent (79-30%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0030950,Pulmonary venous hypertension,Very rare (<4-1%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0045042,Decreased serum complement C4,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0045050,Increased DLCO,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019110,Orphanet,90060,ORPHA:90060,34,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:20442117, PMID:22963805, PMID:24791616, PMID:28732837]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0000713,Agitation,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0000846,Adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001350,Slurred speech,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001404,Hepatocellular necrosis,Very frequent (99-80%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001941,Acidosis,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001948,Alkalosis,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002181,Cerebral edema,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002311,Incoordination,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002329,Drowsiness,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002605,Hepatic necrosis,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002614,Hepatic periportal necrosis,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002625,Deep venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002793,Abnormal pattern of respiration,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002795,Abnormal respiratory system physiology,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002883,Hyperventilation,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0003225,Reduced coagulation factor V activity,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0003256,Abnormality of the coagulation cascade,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0007021,Pain insensitivity,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0008151,Prolonged prothrombin time,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0008169,Reduced factor VII activity,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0008321,Reduced factor X activity,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0012115,Hepatitis,Very frequent (99-80%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0012417,Hypocapnia,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0030977,Increased factor VIII activity,Frequent (79-30%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0031273,Shock,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019112,Orphanet,90062,ORPHA:90062,50,HP:0031844,Euphoria,Occasional (29-5%),TAS,,,,"[PMID:27058243, PMID:30266162, PMID:30485882]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0001941,Acidosis,Occasional (29-5%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0003470,Paralysis,Occasional (29-5%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0003690,Limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0004755,Supraventricular tachycardia,Occasional (29-5%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0006937,Impaired distal tactile sensation,Frequent (79-30%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0009763,Limb pain,Very frequent (99-80%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0011121,Abnormality of skin morphology,Very frequent (99-80%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0012514,Lower limb pain,Very frequent (99-80%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0025018,Abnormal capillary physiology,Very frequent (99-80%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0030846,Abnormality of venous physiology,Frequent (79-30%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0031271,Absent ankle pulse,Frequent (79-30%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019113,Orphanet,90064,ORPHA:90064,17,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,"[PMID:26375664, PMID:28722881, PMID:28987435, PMID:4593615]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0001133,Constriction of peripheral visual field,Frequent (79-30%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0001259,Coma,Frequent (79-30%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0001342,Cerebral hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0002140,Ischemic stroke,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0002344,Progressive neurologic deterioration,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0002490,Increased CSF lactate,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0002637,Cerebral ischemia,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0003074,Hyperglycemia,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0003124,Hypercholesterolemia,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0005184,Prolonged QTc interval,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0009145,Abnormal cerebral artery morphology,Very frequent (99-80%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0012250,ST segment depression,Frequent (79-30%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0030955,Alcoholism,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0031058,Impairment of activities of daily living,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0031885,Hyperglycorrhachia,Occasional (29-5%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0040075,Hypopituitarism,Very rare (<4-1%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019114,Orphanet,90065,ORPHA:90065,33,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:24670311, PMID:27316915, PMID:29623945, PMID:30366144, PMID:30535853, PMID:31051460]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0000099,Glomerulonephritis,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0000709,Psychosis,Frequent (79-30%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0000713,Agitation,Frequent (79-30%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0000725,Psychotic episodes,Frequent (79-30%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0000746,Delusions,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0000790,Hematuria,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0001337,Tremor,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0001342,Cerebral hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0001657,Prolonged QT interval,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0001919,Acute kidney injury,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0001970,Tubulointerstitial nephritis,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002069,Bilateral tonic-clonic seizure,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002098,Respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002105,Hemoptysis,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002107,Pneumothorax,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002113,Pulmonary infiltrates,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002133,Status epilepticus,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002138,Subarachnoid hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002140,Ischemic stroke,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002583,Colitis,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002615,Hypotension,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002647,Aortic dissection,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0002883,Hyperventilation,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0003201,Rhabdomyolysis,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0004305,Involuntary movements,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0004308,Ventricular arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0005115,Supraventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0005244,Gastrointestinal infarctions,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0005521,Disseminated intravascular coagulation,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0006677,Prolonged QRS complex,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0006803,Vivid hallucinations,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0007359,Focal-onset seizure,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0008765,Auditory hallucinations,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0011106,Hypovolemia,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0011151,Atypical absence status epilepticus,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0011499,Mydriasis,Frequent (79-30%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0011999,Paranoia,Frequent (79-30%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0025085,Bloody diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0025420,Diffuse alveolar hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0025421,Pneumomediastinum,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0025435,Increased circulating lactate dehydrogenase concentration,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0030157,Flank pain,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0030828,Wheezing,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0031258,Delirium,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0031368,Intestinal perforation,Very rare (<4-1%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0100598,Pulmonary edema,Occasional (29-5%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019115,Orphanet,90068,ORPHA:90068,63,HP:0100754,Mania,Frequent (79-30%),TAS,,,,"[PMID:22998988, PMID:31679603]",y,y +GARD:0019125,Orphanet,90156,ORPHA:90156,10,HP:0000765,Abnormal thorax morphology,Occasional (29-5%),TAS,,,,"[PMID:12080947, PMID:17894715, PMID:19712277, PMID:20811202, PMID:6691914, PMID:7073970, PMID:8136542]",y,y +GARD:0019125,Orphanet,90156,ORPHA:90156,10,HP:0001596,Alopecia,Very rare (<4-1%),TAS,,,,"[PMID:12080947, PMID:17894715, PMID:19712277, PMID:20811202, PMID:6691914, PMID:7073970, PMID:8136542]",y,y +GARD:0019125,Orphanet,90156,ORPHA:90156,10,HP:0002840,Lymphadenitis,Occasional (29-5%),TAS,,,,"[PMID:12080947, PMID:17894715, PMID:19712277, PMID:20811202, PMID:6691914, PMID:7073970, PMID:8136542]",y,y +GARD:0019125,Orphanet,90156,ORPHA:90156,10,HP:0003758,Reduced subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:12080947, PMID:17894715, PMID:19712277, PMID:20811202, PMID:6691914, PMID:7073970, PMID:8136542]",y,y +GARD:0019125,Orphanet,90156,ORPHA:90156,10,HP:0005320,Lack of facial subcutaneous fat,Very rare (<4-1%),TAS,,,,"[PMID:12080947, PMID:17894715, PMID:19712277, PMID:20811202, PMID:6691914, PMID:7073970, PMID:8136542]",y,y +GARD:0019125,Orphanet,90156,ORPHA:90156,10,HP:0007485,Absence of subcutaneous fat,Frequent (79-30%),TAS,,,,"[PMID:12080947, PMID:17894715, PMID:19712277, PMID:20811202, PMID:6691914, PMID:7073970, PMID:8136542]",y,y +GARD:0019125,Orphanet,90156,ORPHA:90156,10,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,"[PMID:12080947, PMID:17894715, PMID:19712277, PMID:20811202, PMID:6691914, PMID:7073970, PMID:8136542]",y,y +GARD:0019125,Orphanet,90156,ORPHA:90156,10,HP:0011123,Inflammatory abnormality of the skin,Occasional (29-5%),TAS,,,,"[PMID:12080947, PMID:17894715, PMID:19712277, PMID:20811202, PMID:6691914, PMID:7073970, PMID:8136542]",y,y +GARD:0019125,Orphanet,90156,ORPHA:90156,10,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,"[PMID:12080947, PMID:17894715, PMID:19712277, PMID:20811202, PMID:6691914, PMID:7073970, PMID:8136542]",y,y +GARD:0019125,Orphanet,90156,ORPHA:90156,10,HP:0100578,Lipoatrophy,Obligate (100%),TAS,,,,"[PMID:12080947, PMID:17894715, PMID:19712277, PMID:20811202, PMID:6691914, PMID:7073970, PMID:8136542]",y,y +GARD:0019126,Orphanet,90157,ORPHA:90157,6,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:1554737, PMID:16638431, PMID:24336944, PMID:24961832, PMID:2974269, PMID:8859277]",y,y +GARD:0019126,Orphanet,90157,ORPHA:90157,6,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:1554737, PMID:16638431, PMID:24336944, PMID:24961832, PMID:2974269, PMID:8859277]",y,y +GARD:0019126,Orphanet,90157,ORPHA:90157,6,HP:0003758,Reduced subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:1554737, PMID:16638431, PMID:24336944, PMID:24961832, PMID:2974269, PMID:8859277]",y,y +GARD:0019126,Orphanet,90157,ORPHA:90157,6,HP:0007485,Absence of subcutaneous fat,Frequent (79-30%),TAS,,,,"[PMID:1554737, PMID:16638431, PMID:24336944, PMID:24961832, PMID:2974269, PMID:8859277]",y,y +GARD:0019126,Orphanet,90157,ORPHA:90157,6,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,"[PMID:1554737, PMID:16638431, PMID:24336944, PMID:24961832, PMID:2974269, PMID:8859277]",y,y +GARD:0019126,Orphanet,90157,ORPHA:90157,6,HP:0100578,Lipoatrophy,Obligate (100%),TAS,,,,"[PMID:1554737, PMID:16638431, PMID:24336944, PMID:24961832, PMID:2974269, PMID:8859277]",y,y +GARD:0019127,Orphanet,90158,ORPHA:90158,11,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:17989899, PMID:18280348, PMID:18718199, PMID:24346897, PMID:8252774, PMID:8859277]",y,y +GARD:0019127,Orphanet,90158,ORPHA:90158,11,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:17989899, PMID:18280348, PMID:18718199, PMID:24346897, PMID:8252774, PMID:8859277]",y,y +GARD:0019127,Orphanet,90158,ORPHA:90158,11,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:17989899, PMID:18280348, PMID:18718199, PMID:24346897, PMID:8252774, PMID:8859277]",y,y +GARD:0019127,Orphanet,90158,ORPHA:90158,11,HP:0003758,Reduced subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:17989899, PMID:18280348, PMID:18718199, PMID:24346897, PMID:8252774, PMID:8859277]",y,y +GARD:0019127,Orphanet,90158,ORPHA:90158,11,HP:0007485,Absence of subcutaneous fat,Frequent (79-30%),TAS,,,,"[PMID:17989899, PMID:18280348, PMID:18718199, PMID:24346897, PMID:8252774, PMID:8859277]",y,y +GARD:0019127,Orphanet,90158,ORPHA:90158,11,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,"[PMID:17989899, PMID:18280348, PMID:18718199, PMID:24346897, PMID:8252774, PMID:8859277]",y,y +GARD:0019127,Orphanet,90158,ORPHA:90158,11,HP:0011123,Inflammatory abnormality of the skin,Occasional (29-5%),TAS,,,,"[PMID:17989899, PMID:18280348, PMID:18718199, PMID:24346897, PMID:8252774, PMID:8859277]",y,y +GARD:0019127,Orphanet,90158,ORPHA:90158,11,HP:0012344,Morphea,Very rare (<4-1%),TAS,,,,"[PMID:17989899, PMID:18280348, PMID:18718199, PMID:24346897, PMID:8252774, PMID:8859277]",y,y +GARD:0019127,Orphanet,90158,ORPHA:90158,11,HP:0040189,Scaling skin,Very rare (<4-1%),TAS,,,,"[PMID:17989899, PMID:18280348, PMID:18718199, PMID:24346897, PMID:8252774, PMID:8859277]",y,y +GARD:0019127,Orphanet,90158,ORPHA:90158,11,HP:0100324,Scleroderma,Very rare (<4-1%),TAS,,,,"[PMID:17989899, PMID:18280348, PMID:18718199, PMID:24346897, PMID:8252774, PMID:8859277]",y,y +GARD:0019127,Orphanet,90158,ORPHA:90158,11,HP:0100578,Lipoatrophy,Obligate (100%),TAS,,,,"[PMID:17989899, PMID:18280348, PMID:18718199, PMID:24346897, PMID:8252774, PMID:8859277]",y,y +GARD:0019128,Orphanet,90159,ORPHA:90159,9,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:15554737, PMID:18333902, PMID:21865368, PMID:2613949, PMID:3510652]",y,y +GARD:0019128,Orphanet,90159,ORPHA:90159,9,HP:0003758,Reduced subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:15554737, PMID:18333902, PMID:21865368, PMID:2613949, PMID:3510652]",y,y +GARD:0019128,Orphanet,90159,ORPHA:90159,9,HP:0007485,Absence of subcutaneous fat,Frequent (79-30%),TAS,,,,"[PMID:15554737, PMID:18333902, PMID:21865368, PMID:2613949, PMID:3510652]",y,y +GARD:0019128,Orphanet,90159,ORPHA:90159,9,HP:0010701,Abnormal immunoglobulin level,Frequent (79-30%),TAS,,,,"[PMID:15554737, PMID:18333902, PMID:21865368, PMID:2613949, PMID:3510652]",y,y +GARD:0019128,Orphanet,90159,ORPHA:90159,9,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:15554737, PMID:18333902, PMID:21865368, PMID:2613949, PMID:3510652]",y,y +GARD:0019128,Orphanet,90159,ORPHA:90159,9,HP:0011123,Inflammatory abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:15554737, PMID:18333902, PMID:21865368, PMID:2613949, PMID:3510652]",y,y +GARD:0019128,Orphanet,90159,ORPHA:90159,9,HP:0100578,Lipoatrophy,Obligate (100%),TAS,,,,"[PMID:15554737, PMID:18333902, PMID:21865368, PMID:2613949, PMID:3510652]",y,y +GARD:0019128,Orphanet,90159,ORPHA:90159,9,HP:0200029,Vasculitis in the skin,Occasional (29-5%),TAS,,,,"[PMID:15554737, PMID:18333902, PMID:21865368, PMID:2613949, PMID:3510652]",y,y +GARD:0019128,Orphanet,90159,ORPHA:90159,9,HP:0200036,Skin nodule,Frequent (79-30%),TAS,,,,"[PMID:15554737, PMID:18333902, PMID:21865368, PMID:2613949, PMID:3510652]",y,y +GARD:0019129,Orphanet,90160,ORPHA:90160,7,HP:0003758,Reduced subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:18501172, PMID:21865368, PMID:2279347]",y,y +GARD:0019129,Orphanet,90160,ORPHA:90160,7,HP:0007485,Absence of subcutaneous fat,Frequent (79-30%),TAS,,,,"[PMID:18501172, PMID:21865368, PMID:2279347]",y,y +GARD:0019129,Orphanet,90160,ORPHA:90160,7,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:18501172, PMID:21865368, PMID:2279347]",y,y +GARD:0019129,Orphanet,90160,ORPHA:90160,7,HP:0011123,Inflammatory abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:18501172, PMID:21865368, PMID:2279347]",y,y +GARD:0019129,Orphanet,90160,ORPHA:90160,7,HP:0011356,Regional abnormality of skin,Very frequent (99-80%),TAS,,,,"[PMID:18501172, PMID:21865368, PMID:2279347]",y,y +GARD:0019129,Orphanet,90160,ORPHA:90160,7,HP:0100578,Lipoatrophy,Obligate (100%),TAS,,,,"[PMID:18501172, PMID:21865368, PMID:2279347]",y,y +GARD:0019129,Orphanet,90160,ORPHA:90160,7,HP:0200036,Skin nodule,Frequent (79-30%),TAS,,,,"[PMID:18501172, PMID:21865368, PMID:2279347]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0000965,Cutis marmorata,Frequent (79-30%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0002923,Rheumatoid factor positive,Frequent (79-30%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0003613,Antiphospholipid antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0007417,Discoid lupus rash,Occasional (29-5%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0011123,Inflammatory abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0012325,Chronic myelomonocytic leukemia,Occasional (29-5%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0025131,Finger swelling,Frequent (79-30%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0025300,Malar rash,Frequent (79-30%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0030350,Erythematous papule,Frequent (79-30%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0030880,Raynaud phenomenon,Frequent (79-30%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0030899,Pruritis on hand,Frequent (79-30%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019130,Orphanet,90280,ORPHA:90280,18,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,"[PMID:18543054, PMID:24285807]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0001708,Right ventricular failure,Very rare (<4-1%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0001907,Thromboembolism,Very rare (<4-1%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0002028,Chronic diarrhea,Frequent (79-30%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0002563,Constrictive pericarditis,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0002576,Intussusception,Very rare (<4-1%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0002580,Volvulus,Very rare (<4-1%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0002584,Intestinal bleeding,Very rare (<4-1%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0002608,Celiac disease,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0002719,Recurrent infections,Very rare (<4-1%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0002720,Decreased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0002850,Decreased circulating total IgM,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0003146,Hypocholesterolemia,Frequent (79-30%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0004788,Intestinal lymphedema,Frequent (79-30%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0005214,Intestinal obstruction,Very rare (<4-1%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0011741,Secondary hyperaldosteronism,Frequent (79-30%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0011848,Abdominal colic,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0011900,Hypofibrinogenemia,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0012050,Anasarca,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0012191,B-cell lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0012281,Chylous ascites,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0012537,Food intolerance,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0031085,Decreased prealbumin level,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0031686,Increased stool alpha1-antitrypsin concentration,Very frequent (99-80%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0032064,Gastrointestinal eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0032136,Decreased circulating IgG1 level,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0032387,Reduced circulating transferrin concentration,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019135,Orphanet,90363,ORPHA:90363,40,HP:0100324,Scleroderma,Occasional (29-5%),TAS,,,,"[PMID:25618488, PMID:26837404, PMID:30322285, PMID:33431540]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000026,Male hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000134,Female hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000140,Abnormality of the menstrual cycle,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000789,Infertility,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000836,Hyperthyroidism,Very frequent (99-80%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000837,Increased circulating gonadotropin level,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000845,Elevated circulating growth hormone concentration,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000853,Goiter,Very frequent (99-80%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000858,Irregular menstruation,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000868,Decreased fertility in females,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000870,Increased circulating prolactin concentration,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0001117,Sudden loss of visual acuity,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0002900,Hypokalemia,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0002920,Decreased circulating ACTH level,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0002925,Elevated circulating thyroid-stimulating hormone concentration,Very frequent (99-80%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0004308,Ventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0005115,Supraventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0006897,Abducens palsy,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0007011,Fourth cranial nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0007942,Internal ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0008153,Periodic hypokalemic paresis,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0008240,Secondary growth hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0008247,Euthyroid hyperthyroxinemia,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0011362,Abnormal hair quantity,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0011734,Central adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0011735,Adrenocorticotropin deficient adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0011748,Adrenocorticotropic hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0011782,Thyroid crisis,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0012041,Decreased fertility in males,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0012246,Oculomotor nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0012377,Hemianopia,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0012503,Abnormality of the pituitary gland,Very frequent (99-80%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0012505,Enlarged pituitary gland,Very frequent (99-80%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0030018,Decreased female libido,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0030517,Heteronymous hemianopia,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0030521,Bitemporal hemianopia,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0030588,Abnormal visual field test,Occasional (29-5%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019157,Orphanet,91347,ORPHA:91347,66,HP:0100639,Erectile dysfunction,Frequent (79-30%),TAS,,,,"[PMID:10566620, PMID:12544087, PMID:15545848, PMID:1704010, PMID:1704011, PMID:19098060, PMID:24552222, PMID:25237847, PMID:26765410, PMID:6338852, PMID:6810781, PMID:8768879, PMID:9735086]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000138,Ovarian cyst,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000140,Abnormality of the menstrual cycle,Frequent (79-30%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000141,Amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000789,Infertility,Frequent (79-30%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000798,Oligospermia,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000830,Anterior hypopituitarism,Frequent (79-30%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000837,Increased circulating gonadotropin level,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000863,Central diabetes insipidus,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000871,Panhypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0001123,Visual field defect,Frequent (79-30%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0002050,"Macroorchidism, postpubertal",Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0002625,Deep venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0008236,Isosexual precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0008245,Pituitary hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0008675,Enlarged polycystic ovaries,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0009888,Abnormality of secondary sexual hair,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0011748,Adrenocorticotropic hormone deficiency,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0011759,Pituitary gonadotropic cell adenoma,Obligate (100%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0012246,Oculomotor nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0030018,Decreased female libido,Frequent (79-30%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0030088,Increased serum testosterone level,Frequent (79-30%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0040086,Abnormal prolactin level,Frequent (79-30%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019158,Orphanet,91348,ORPHA:91348,34,HP:0100829,Galactorrhea,Occasional (29-5%),TAS,,,,"[PMID:11502789, PMID:20960265, PMID:21196695, PMID:25166722, PMID:26072284, PMID:2627747, PMID:2991325, PMID:334787, PMID:402377, PMID:767353, PMID:8656706, PMID:9768644]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000026,Male hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000053,Macroorchidism,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000134,Female hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000140,Abnormality of the menstrual cycle,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000830,Anterior hypopituitarism,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000837,Increased circulating gonadotropin level,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000846,Adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000858,Irregular menstruation,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000863,Central diabetes insipidus,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000868,Decreased fertility in females,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000871,Panhypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0001117,Sudden loss of visual acuity,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0002050,"Macroorchidism, postpubertal",Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0002920,Decreased circulating ACTH level,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0006897,Abducens palsy,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0007011,Fourth cranial nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0007942,Internal ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0008202,Reduced circulating prolactin concentration,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0008240,Secondary growth hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0008993,Increased intraabdominal fat,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0010972,Anemia of inadequate production,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0011362,Abnormal hair quantity,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0011734,Central adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0011735,Adrenocorticotropin deficient adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0011748,Adrenocorticotropic hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0011804,Abnormal muscle physiology,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0012041,Decreased fertility in males,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0012246,Oculomotor nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0012377,Hemianopia,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0012503,Abnormality of the pituitary gland,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0030018,Decreased female libido,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0030088,Increased serum testosterone level,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0030517,Heteronymous hemianopia,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0030521,Bitemporal hemianopia,Occasional (29-5%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0040075,Hypopituitarism,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019159,Orphanet,91349,ORPHA:91349,56,HP:0100639,Erectile dysfunction,Frequent (79-30%),TAS,,,,"[PMID:19945027, PMID:21474687, PMID:25208537, PMID:26070464, PMID:26072284, PMID:8496297]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0000044,Hypogonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0000651,Diplopia,Very rare (<4-1%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0000830,Anterior hypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0000870,Increased circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0000871,Panhypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0000873,Diabetes insipidus,Very rare (<4-1%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0002170,Intracranial hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0004372,Reduced consciousness/confusion,Very rare (<4-1%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0007807,Optic nerve compression,Occasional (29-5%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0007924,Slow decrease in visual acuity,Frequent (79-30%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0008240,Secondary growth hormone deficiency,Occasional (29-5%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0008245,Pituitary hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0011735,Adrenocorticotropin deficient adrenal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0012246,Oculomotor nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0012505,Enlarged pituitary gland,Frequent (79-30%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0030521,Bitemporal hemianopia,Frequent (79-30%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0030591,Abnormal kinetic perimetry test,Frequent (79-30%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0030907,Thunderclap headache,Very rare (<4-1%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0040075,Hypopituitarism,Obligate (100%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019160,Orphanet,91350,ORPHA:91350,24,HP:0430022,Abnormality of the sphenoid sinus,Very rare (<4-1%),TAS,,,,"[PMID:14264977, PMID:15739543, PMID:20509729, PMID:22099688, PMID:22336224, PMID:22969141, PMID:26305621, PMID:28272259]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0000141,Amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0000798,Oligospermia,Occasional (29-5%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0000830,Anterior hypopituitarism,Very frequent (99-80%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0000870,Increased circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0000871,Panhypopituitarism,Frequent (79-30%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0000876,Oligomenorrhea,Frequent (79-30%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0001117,Sudden loss of visual acuity,Very rare (<4-1%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0001959,Polydipsia,Very rare (<4-1%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0002331,Recurrent paroxysmal headache,Frequent (79-30%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0010514,Hyperpituitarism,Frequent (79-30%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0010885,Avascular necrosis,Very frequent (99-80%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0011442,Abnormal central motor function,Occasional (29-5%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0011730,Abnormal central sensory function,Occasional (29-5%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0011750,Neoplasm of the anterior pituitary,Very frequent (99-80%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0012505,Enlarged pituitary gland,Frequent (79-30%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0030907,Thunderclap headache,Frequent (79-30%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019161,Orphanet,91351,ORPHA:91351,24,HP:0100829,Galactorrhea,Frequent (79-30%),TAS,,,,"[PMID:11081162, PMID:15808736, PMID:18701295, PMID:1886651, PMID:2417151, PMID:25865027, PMID:6661939, PMID:6827329, PMID:9384413, PMID:9864727]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0000651,Diplopia,Very rare (<4-1%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0000863,Central diabetes insipidus,Very rare (<4-1%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0000870,Increased circulating prolactin concentration,Occasional (29-5%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0000876,Oligomenorrhea,Frequent (79-30%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0002615,Hypotension,Very rare (<4-1%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0002893,Pituitary adenoma,Excluded (0%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0002902,Hyponatremia,Very rare (<4-1%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0002921,Abnormality of the cerebrospinal fluid,Occasional (29-5%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0008245,Pituitary hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0011446,Abnormality of higher mental function,Occasional (29-5%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0011748,Adrenocorticotropic hormone deficiency,Occasional (29-5%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0030532,Visual acuity test abnormality,Occasional (29-5%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0040075,Hypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019163,Orphanet,91354,ORPHA:91354,21,HP:0100661,Trigeminal neuralgia,Very rare (<4-1%),TAS,,,,"[PMID:10424206, PMID:10584841, PMID:15972577, PMID:16304986, PMID:17635438, PMID:17643081, PMID:1914345, PMID:19352054, PMID:2221821, PMID:23617499, PMID:26871784, PMID:3417843, PMID:6286712, PMID:910813]",y,y +GARD:0019166,Orphanet,91359,ORPHA:91359,13,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:25755194, PMID:30505512]",y,y +GARD:0019166,Orphanet,91359,ORPHA:91359,13,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:25755194, PMID:30505512]",y,y +GARD:0019166,Orphanet,91359,ORPHA:91359,13,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:25755194, PMID:30505512]",y,y +GARD:0019166,Orphanet,91359,ORPHA:91359,13,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:25755194, PMID:30505512]",y,y +GARD:0019166,Orphanet,91359,ORPHA:91359,13,HP:0002207,Diffuse reticular or finely nodular infiltrations,Frequent (79-30%),TAS,,,,"[PMID:25755194, PMID:30505512]",y,y +GARD:0019166,Orphanet,91359,ORPHA:91359,13,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:25755194, PMID:30505512]",y,y +GARD:0019166,Orphanet,91359,ORPHA:91359,13,HP:0002883,Hyperventilation,Frequent (79-30%),TAS,,,,"[PMID:25755194, PMID:30505512]",y,y +GARD:0019166,Orphanet,91359,ORPHA:91359,13,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:25755194, PMID:30505512]",y,y +GARD:0019166,Orphanet,91359,ORPHA:91359,13,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:25755194, PMID:30505512]",y,y +GARD:0019166,Orphanet,91359,ORPHA:91359,13,HP:0025179,Ground-glass opacification,Frequent (79-30%),TAS,,,,"[PMID:25755194, PMID:30505512]",y,y +GARD:0019166,Orphanet,91359,ORPHA:91359,13,HP:0030864,Intercostal retractions,Occasional (29-5%),TAS,,,,"[PMID:25755194, PMID:30505512]",y,y +GARD:0019166,Orphanet,91359,ORPHA:91359,13,HP:0032341,Reduced forced vital capacity,Frequent (79-30%),TAS,,,,"[PMID:25755194, PMID:30505512]",y,y +GARD:0019166,Orphanet,91359,ORPHA:91359,13,HP:0100721,Mediastinal lymphadenopathy,Very rare (<4-1%),TAS,,,,"[PMID:25755194, PMID:30505512]",y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0001287,Meningitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0001678,Atrioventricular block,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0002315,Headache,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0004334,Dermal atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0006824,Cranial nerve paralysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0100576,Amaurosis fugax,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0100785,Insomnia,Occasional (29-5%),TAS,,,,,y,y +GARD:0019170,Orphanet,91546,ORPHA:91546,24,HP:0200036,Skin nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0000421,Epistaxis,Very rare (<4-1%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0000790,Hematuria,Very rare (<4-1%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0002014,Diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0002105,Hemoptysis,Very rare (<4-1%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0003259,Elevated circulating creatinine concentration,Occasional (29-5%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0003573,Increased total bilirubin,Very frequent (99-80%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0008151,Prolonged prothrombin time,Very rare (<4-1%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0011227,Elevated circulating C-reactive protein concentration,Very frequent (99-80%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0011897,Neutrophilia,Very rare (<4-1%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0011899,Hyperfibrinogenemia,Very rare (<4-1%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019171,Orphanet,91547,ORPHA:91547,32,HP:0031179,Nuchal rigidity,Occasional (29-5%),TAS,,,,"[PMID:29016302, PMID:31187963]",y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0000069,Abnormality of the ureter,Occasional (29-5%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0000091,Abnormal renal tubule morphology,Frequent (79-30%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0000125,Pelvic kidney,Occasional (29-5%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0005563,Decreased numbers of nephrons,Frequent (79-30%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0010481,Urethral valve,Occasional (29-5%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0011035,Abnormal renal cortex morphology,Frequent (79-30%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0012210,Abnormal renal morphology,Frequent (79-30%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,[PMID:32520748],y,y +GARD:0019172,Orphanet,93101,ORPHA:93101,20,HP:0030162,Glomerulomegaly,Frequent (79-30%),TAS,,,,[PMID:32520748],y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0000009,Functional abnormality of the bladder,Frequent (79-30%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0000070,Ureterocele,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0000072,Hydroureter,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0000091,Abnormal renal tubule morphology,Frequent (79-30%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0000105,Enlarged kidney,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0001586,Vesicovaginal fistula,Very rare (<4-1%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0004722,Thickened glomerular basement membrane,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0005999,Ureteral atresia,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0010957,Congenital posterior urethral valve,Very rare (<4-1%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0011130,Abnormal renal calyx morphology,Frequent (79-30%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0012300,Ureteral agenesis,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0012330,Pyelonephritis,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0012575,Abnormal nephron morphology,Frequent (79-30%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0012596,Moderate proteinuria,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0030157,Flank pain,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0031500,Abdominal mass,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019173,Orphanet,93108,ORPHA:93108,28,HP:0031501,Pelvic mass,Occasional (29-5%),TAS,,,,"[PMID:25128997, PMID:25822765, PMID:33894118]",y,y +GARD:0019174,Orphanet,93109,ORPHA:93109,10,HP:0000010,Recurrent urinary tract infections,Frequent (79-30%),TAS,,,,[PMID:16293636],y,y +GARD:0019174,Orphanet,93109,ORPHA:93109,10,HP:0000105,Enlarged kidney,Frequent (79-30%),TAS,,,,[PMID:16293636],y,y +GARD:0019174,Orphanet,93109,ORPHA:93109,10,HP:0000107,Renal cyst,Frequent (79-30%),TAS,,,,[PMID:16293636],y,y +GARD:0019174,Orphanet,93109,ORPHA:93109,10,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,[PMID:16293636],y,y +GARD:0019174,Orphanet,93109,ORPHA:93109,10,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,[PMID:16293636],y,y +GARD:0019174,Orphanet,93109,ORPHA:93109,10,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,[PMID:16293636],y,y +GARD:0019174,Orphanet,93109,ORPHA:93109,10,HP:0001970,Tubulointerstitial nephritis,Frequent (79-30%),TAS,,,,[PMID:16293636],y,y +GARD:0019174,Orphanet,93109,ORPHA:93109,10,HP:0006000,Ureteral obstruction,Excluded (0%),TAS,,,,[PMID:16293636],y,y +GARD:0019174,Orphanet,93109,ORPHA:93109,10,HP:0012211,Abnormal renal physiology,Frequent (79-30%),TAS,,,,[PMID:16293636],y,y +GARD:0019174,Orphanet,93109,ORPHA:93109,10,HP:0100581,Dilatation of renal calices,Obligate (100%),TAS,,,,[PMID:16293636],y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0000096,Glomerular sclerosis,Frequent (79-30%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0000099,Glomerulonephritis,Obligate (100%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0000155,Oral ulcer,Very rare (<4-1%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0000951,Abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0001626,Abnormality of the cardiovascular system,Very rare (<4-1%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0001733,Pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0001970,Tubulointerstitial nephritis,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0002086,Abnormality of the respiratory system,Frequent (79-30%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0002087,Abnormality of the upper respiratory tract,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0002907,Microscopic hematuria,Very frequent (99-80%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0002955,Granulomatosis,Excluded (0%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0003259,Elevated circulating creatinine concentration,Very frequent (99-80%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0004930,Abnormality of the pulmonary vasculature,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0008653,Crescentic glomerulonephritis,Frequent (79-30%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0011024,Abnormality of the gastrointestinal tract,Very rare (<4-1%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0011944,Small vessel vasculitis,Very frequent (99-80%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0012089,Arteritis,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0012213,Decreased glomerular filtration rate,Very frequent (99-80%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0012587,Macroscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0012593,Nephrotic range proteinuria,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0032018,Multiple mononeuropathy,Very rare (<4-1%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0032230,Cytoplasmic antineutrophil antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0032616,Renal interstitial immunoglobulin deposits,Excluded (0%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0040223,Pulmonary hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019175,Orphanet,93126,ORPHA:93126,37,HP:0100532,Scleritis,Very rare (<4-1%),TAS,,,,"[PMID:25669759, PMID:28613478, PMID:28842398, PMID:32491362]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0000882,Hypoplastic scapulae,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0001180,Hand oligodactyly,Frequent (79-30%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0001377,Limited elbow extension,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0002986,Radial bowing,Frequent (79-30%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0002996,Limited elbow movement,Frequent (79-30%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0003041,Humeroradial synostosis,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0003059,Abnormality of the radioulnar joints,Frequent (79-30%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0003083,Dislocated radial head,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0003316,Butterfly vertebrae,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0003887,Abnormality of the humeral heads,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0003967,Sclerotic forearm bones,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0004059,Radial club hand,Frequent (79-30%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0005773,Short forearm,Frequent (79-30%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0005879,Congenital finger flexion contractures,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0006055,Ulnar deviated club hands,Frequent (79-30%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0006376,Limited elbow flexion,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0006467,Limited shoulder movement,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0006495,Aplasia/Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0006633,Glenoid fossa hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0009164,Abnormal calcification of the carpal bones,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0009238,Aplasia of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0009281,Aplasia of the 4th finger,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0009471,Contracture of the proximal interphalangeal joint of the 3rd finger,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0009701,Metacarpal synostosis,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0009702,Carpal synostosis,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0009760,Antecubital pterygium,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0009813,Upper limb phocomelia,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0009959,Duplication of phalanx of 3rd finger,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0010011,Abnormal 3rd metacarpal morphology,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0010048,Aplasia of metacarpal bones,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0010176,Curved toe phalanx,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0010301,Spinal dysraphism,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0010331,Aplasia/Hypoplasia of the 3rd toe,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0030835,Elbow pain,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0040070,Abnormal upper limb bone morphology,Frequent (79-30%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0100558,Hemiatrophy of upper limb,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019182,Orphanet,93320,ORPHA:93320,40,HP:0100745,Abnormality of the humeroulnar joint,Occasional (29-5%),TAS,,,,"[PMID:27843519, PMID:30712123, PMID:31524738, PMID:6630492]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0000943,Dysostosis multiplex,Very frequent (99-80%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0003271,Visceromegaly,Very frequent (99-80%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0004554,Generalized hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0006957,Loss of ability to walk,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0009891,Underdeveloped supraorbital ridges,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0010729,Cherry red spot of the macula,Frequent (79-30%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0010808,Protruding tongue,Occasional (29-5%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019183,Orphanet,93399,ORPHA:93399,38,HP:0010864,"Intellectual disability, severe",Very rare (<4-1%),TAS,,,,"[PMID:19568825, PMID:29693572]",y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000212,Gingival overgrowth,Very rare (<4-1%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000256,Macrocephaly,Very rare (<4-1%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000348,High forehead,Very rare (<4-1%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000943,Dysostosis multiplex,Frequent (79-30%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000967,Petechiae,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0000969,Edema,Frequent (79-30%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0001009,Telangiectasia,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0002240,Hepatomegaly,Very rare (<4-1%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0003115,Abnormal EKG,Very rare (<4-1%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0004554,Generalized hypertrichosis,Very rare (<4-1%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0007750,Hypoplasia of the fovea,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0009891,Underdeveloped supraorbital ridges,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0010442,Polydactyly,Very rare (<4-1%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0010729,Cherry red spot of the macula,Frequent (79-30%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0010808,Protruding tongue,Very rare (<4-1%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0011947,Respiratory tract infection,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0025356,Psychomotor retardation,Frequent (79-30%),TAS,,,,[PMID:29693572],y,y +GARD:0019184,Orphanet,93400,ORPHA:93400,42,HP:0030506,Yellow/white lesions of the retina,Occasional (29-5%),TAS,,,,[PMID:29693572],y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0002992,Abnormality of tibia morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0003307,Hyperlordosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0009601,Aplasia/Hypoplasia of the thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0009836,Broad distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019192,Orphanet,93430,ORPHA:93430,19,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0000079,Abnormality of the urinary system,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0000100,Nephrotic syndrome,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0000123,Nephritis,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0000155,Oral ulcer,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0000951,Abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0001596,Alopecia,Very rare (<4-1%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0001698,Pericardial effusion,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0001937,Microangiopathic hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0002014,Diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0002202,Pleural effusion,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0002463,Language impairment,Very rare (<4-1%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0003453,Antineutrophil antibody positivity,Very rare (<4-1%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0003493,Antinuclear antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0003613,Antiphospholipid antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0005421,Decreased serum complement C3,Very frequent (99-80%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0007417,Discoid lupus rash,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0011024,Abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0025300,Malar rash,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0025343,Lupus anticoagulant,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0030880,Raynaud phenomenon,Very rare (<4-1%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0040319,Dark urine,Occasional (29-5%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0045042,Decreased serum complement C4,Very frequent (99-80%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0100614,Myositis,Very rare (<4-1%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019219,Orphanet,93552,ORPHA:93552,53,HP:0100749,Chest pain,Very rare (<4-1%),TAS,,,,"[PMID:30957986, PMID:31012595, PMID:31030361, PMID:31036039]",y,y +GARD:0019235,Orphanet,93928,ORPHA:93928,6,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,[PMID:18314106],y,y +GARD:0019235,Orphanet,93928,ORPHA:93928,6,HP:0000039,Epispadias,Very frequent (99-80%),TAS,,,,[PMID:18314106],y,y +GARD:0019235,Orphanet,93928,ORPHA:93928,6,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,[PMID:18314106],y,y +GARD:0019235,Orphanet,93928,ORPHA:93928,6,HP:0002644,Abnormality of pelvic girdle bone morphology,Frequent (79-30%),TAS,,,,[PMID:18314106],y,y +GARD:0019235,Orphanet,93928,ORPHA:93928,6,HP:0008648,Anteriorly displaced urethral meatus,Very frequent (99-80%),TAS,,,,[PMID:18314106],y,y +GARD:0019235,Orphanet,93928,ORPHA:93928,6,HP:0030911,Bifid clitoris,Occasional (29-5%),TAS,,,,[PMID:18314106],y,y +GARD:0019238,Orphanet,93941,ORPHA:93941,12,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0019238,Orphanet,93941,ORPHA:93941,12,HP:0001601,Laryngomalacia,Frequent (79-30%),TAS,,,,,y,y +GARD:0019238,Orphanet,93941,ORPHA:93941,12,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0019238,Orphanet,93941,ORPHA:93941,12,HP:0001743,Abnormality of the spleen,Frequent (79-30%),TAS,,,,,y,y +GARD:0019238,Orphanet,93941,ORPHA:93941,12,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019238,Orphanet,93941,ORPHA:93941,12,HP:0002366,Abnormal lower motor neuron morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0019238,Orphanet,93941,ORPHA:93941,12,HP:0002575,Tracheoesophageal fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0019238,Orphanet,93941,ORPHA:93941,12,HP:0002777,Tracheal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0019238,Orphanet,93941,ORPHA:93941,12,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019238,Orphanet,93941,ORPHA:93941,12,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019238,Orphanet,93941,ORPHA:93941,12,HP:0011100,Intestinal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0019238,Orphanet,93941,ORPHA:93941,12,HP:0100016,Abnormality of mesentery morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0019239,Orphanet,93945,ORPHA:93945,14,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019239,Orphanet,93945,ORPHA:93945,14,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019239,Orphanet,93945,ORPHA:93945,14,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019239,Orphanet,93945,ORPHA:93945,14,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019239,Orphanet,93945,ORPHA:93945,14,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019239,Orphanet,93945,ORPHA:93945,14,HP:0000378,Cupped ear,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019239,Orphanet,93945,ORPHA:93945,14,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019239,Orphanet,93945,ORPHA:93945,14,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019239,Orphanet,93945,ORPHA:93945,14,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019239,Orphanet,93945,ORPHA:93945,14,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019239,Orphanet,93945,ORPHA:93945,14,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019239,Orphanet,93945,ORPHA:93945,14,HP:0002292,Frontal balding,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019239,Orphanet,93945,ORPHA:93945,14,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019239,Orphanet,93945,ORPHA:93945,14,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019240,Orphanet,93946,ORPHA:93946,14,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019240,Orphanet,93946,ORPHA:93946,14,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019240,Orphanet,93946,ORPHA:93946,14,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019240,Orphanet,93946,ORPHA:93946,14,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019240,Orphanet,93946,ORPHA:93946,14,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019240,Orphanet,93946,ORPHA:93946,14,HP:0000378,Cupped ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019240,Orphanet,93946,ORPHA:93946,14,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019240,Orphanet,93946,ORPHA:93946,14,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019240,Orphanet,93946,ORPHA:93946,14,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019240,Orphanet,93946,ORPHA:93946,14,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019240,Orphanet,93946,ORPHA:93946,14,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019240,Orphanet,93946,ORPHA:93946,14,HP:0001522,Death in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019240,Orphanet,93946,ORPHA:93946,14,HP:0001631,Atrial septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019240,Orphanet,93946,ORPHA:93946,14,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0000378,Cupped ear,Very frequent (99-80%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0001264,Spastic diplegia,Frequent (79-30%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0002299,Brittle hair,Frequent (79-30%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,[PMID:16740914],y,y +GARD:0019241,Orphanet,93947,ORPHA:93947,19,HP:0011359,Dry hair,Frequent (79-30%),TAS,,,,[PMID:16740914],y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0000275,Narrow face,Occasional (29-5%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0004325,Decreased body weight,Very frequent (99-80%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019242,Orphanet,93950,ORPHA:93950,18,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:15782410, PMID:30143497]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0000159,Abnormal lip morphology,Occasional (29-5%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0000273,Facial grimacing,Occasional (29-5%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0000277,Abnormal mandible morphology,Frequent (79-30%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0000366,Abnormality of the nose,Occasional (29-5%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0000473,Torticollis,Occasional (29-5%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0000643,Blepharospasm,Occasional (29-5%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0001260,Dysarthria,Very rare (<4-1%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0002098,Respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0002451,Limb dystonia,Very rare (<4-1%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0002487,Hyperkinetic movements,Occasional (29-5%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0003763,Bruxism,Occasional (29-5%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0005216,Impaired mastication,Frequent (79-30%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0007325,Generalized dystonia,Occasional (29-5%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0010754,Abnormality of the temporomandibular joint,Frequent (79-30%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0012049,Laryngeal dystonia,Occasional (29-5%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019243,Orphanet,93958,ORPHA:93958,21,HP:0031008,Lingual dystonia,Occasional (29-5%),TAS,,,,"[PMID:28620630, PMID:29860784]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0000501,Glaucoma,Obligate (100%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0000541,Retinal detachment,Very rare (<4-1%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0000553,Abnormal uvea morphology,Frequent (79-30%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0000587,Abnormality of the optic nerve,Frequent (79-30%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0000593,Abnormal anterior chamber morphology,Occasional (29-5%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0004329,Abnormal posterior eye segment morphology,Occasional (29-5%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0007850,Retinal vascular proliferation,Occasional (29-5%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0007906,Ocular hypertension,Frequent (79-30%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0011497,Iris neovascularization,Very frequent (99-80%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0012040,Corneal stromal edema,Occasional (29-5%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0012636,Retinal vein occlusion,Very frequent (99-80%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0030532,Visual acuity test abnormality,Frequent (79-30%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:0200026,Ocular pain,Frequent (79-30%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019245,Orphanet,94058,ORPHA:94058,16,HP:3000032,Abnormality of central retinal artery,Frequent (79-30%),TAS,,,,"[PMID:1697175, PMID:27895936]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0001581,Recurrent skin infections,Occasional (29-5%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0002918,Hypermagnesemia,Occasional (29-5%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0003138,Increased blood urea nitrogen,Very frequent (99-80%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0003774,Stage 5 chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0008732,Renal hypophosphatemia,Occasional (29-5%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0011112,Abnormality of serum cytokine level,Frequent (79-30%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0011123,Inflammatory abnormality of the skin,Occasional (29-5%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0011354,Generalized abnormality of skin,Frequent (79-30%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0012622,Chronic kidney disease,Very frequent (99-80%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0031355,Maintenance insomnia,Frequent (79-30%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0031901,Elevated total serum tryptase,Frequent (79-30%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0100725,Lichenification,Occasional (29-5%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019246,Orphanet,94059,ORPHA:94059,18,HP:0200034,Papule,Occasional (29-5%),TAS,,,,"[PMID:24402092, PMID:29183013, PMID:9585892]",y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0001800,Hypoplastic toenails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0004397,Ectopic anus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0009835,Aplasia/Hypoplasia of the distal phalanges of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0010185,Aplasia/Hypoplasia of the distal phalanges of the toes,Frequent (79-30%),TAS,,,,,y,y +GARD:0019247,Orphanet,94066,ORPHA:94066,16,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0001069,Episodic hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0001095,Hypertensive retinopathy,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0001293,Cranial nerve compression,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0001342,Cerebral hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0001605,Vocal cord paralysis,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0002331,Recurrent paroxysmal headache,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0002640,Hypertension associated with pheochromocytoma,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0002668,Paraganglioma,Very frequent (99-80%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0002864,Paraganglioma of head and neck,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0003072,Hypercalcemia,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0003345,Elevated urinary norepinephrine,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0003574,Positive regitine blocking test,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0003639,Elevated urinary epinephrine,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0008629,Pulsatile tinnitus,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0010532,Paroxysmal vertigo,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0011703,Sinus tachycardia,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0011979,Elevated urinary dopamine,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0025269,Panic attack,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0031284,Flushing,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019248,Orphanet,94080,ORPHA:94080,31,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0000602,Ophthalmoplegia,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0000872,Hashimoto thyroiditis,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0002315,Headache,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0002403,Positive Romberg sign,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0002406,Limb dysmetria,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0002495,Impaired vibratory sensation,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0003390,Sensory axonal neuropathy,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0003542,Increased serum pyruvate,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0012079,Abnormality of central motor conduction,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0012251,ST segment elevation,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019251,Orphanet,94125,ORPHA:94125,22,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,[PMID:25586537],y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0000127,Renal salt wasting,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0000835,Adrenal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0000848,Increased circulating renin level,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0001278,Orthostatic hypotension,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0001897,Normocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0002149,Hyperuricemia,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0002153,Hyperkalemia,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0002215,Sparse axillary hair,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0003154,Increased circulating ACTH level,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0004319,Decreased circulating aldosterone level,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0005976,Hyperkalemic metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0008163,Decreased circulating cortisol level,Obligate (100%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0008207,Primary adrenal insufficiency,Obligate (100%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0008226,Androgen insufficiency,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0011106,Hypovolemia,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0011948,Recurrent acute respiratory tract infection,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0012364,Decreased urinary potassium,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0030018,Decreased female libido,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019257,Orphanet,95409,ORPHA:95409,44,HP:0030083,Salt craving,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0000832,Primary hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0001265,Hyporeflexia,Very rare (<4-1%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0001396,Cholestasis,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0001543,Gastroschisis,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0001977,Abnormal thrombosis,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0002244,Abnormality of the small intestine,Frequent (79-30%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0002251,Aganglionic megacolon,Very rare (<4-1%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0002570,Steatorrhea,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0002580,Volvulus,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0002591,Polyphagia,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0002621,Atherosclerosis,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0003111,Abnormal blood ion concentration,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0003572,Low plasma citrulline,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0004387,Enterocolitis,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0004395,Malnutrition,Frequent (79-30%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0011100,Intestinal atresia,Very rare (<4-1%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0011473,Villous atrophy,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0011787,Central hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0012850,Small intestinal dysmotility,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0030247,Splanchnic vein thrombosis,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0030248,Mesenteric venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0100508,Abnormality of vitamin metabolism,Frequent (79-30%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019258,Orphanet,95427,ORPHA:95427,32,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:28394957, PMID:28827911, PMID:30037012, PMID:30613802, PMID:30624508, PMID:30725620]",y,y +GARD:0019262,Orphanet,95459,ORPHA:95459,9,HP:0001370,Rheumatoid arthritis,Excluded (0%),TAS,,,,"[PMID:5837153, PMID:7720297, PMID:7743689, PMID:7788951]",y,y +GARD:0019262,Orphanet,95459,ORPHA:95459,9,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:5837153, PMID:7720297, PMID:7743689, PMID:7788951]",y,y +GARD:0019262,Orphanet,95459,ORPHA:95459,9,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:5837153, PMID:7720297, PMID:7743689, PMID:7788951]",y,y +GARD:0019262,Orphanet,95459,ORPHA:95459,9,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:5837153, PMID:7720297, PMID:7743689, PMID:7788951]",y,y +GARD:0019262,Orphanet,95459,ORPHA:95459,9,HP:0005180,Tricuspid regurgitation,Frequent (79-30%),TAS,,,,"[PMID:5837153, PMID:7720297, PMID:7743689, PMID:7788951]",y,y +GARD:0019262,Orphanet,95459,ORPHA:95459,9,HP:0006689,Bacterial endocarditis,Excluded (0%),TAS,,,,"[PMID:5837153, PMID:7720297, PMID:7743689, PMID:7788951]",y,y +GARD:0019262,Orphanet,95459,ORPHA:95459,9,HP:0010446,Tricuspid stenosis,Obligate (100%),TAS,,,,"[PMID:5837153, PMID:7720297, PMID:7743689, PMID:7788951]",y,y +GARD:0019262,Orphanet,95459,ORPHA:95459,9,HP:0030148,Heart murmur,Very frequent (99-80%),TAS,,,,"[PMID:5837153, PMID:7720297, PMID:7743689, PMID:7788951]",y,y +GARD:0019262,Orphanet,95459,ORPHA:95459,9,HP:0100570,Carcinoid tumor,Excluded (0%),TAS,,,,"[PMID:5837153, PMID:7720297, PMID:7743689, PMID:7788951]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0000141,Amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0000870,Increased circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0000871,Panhypopituitarism,Very frequent (99-80%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0000872,Hashimoto thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0001278,Orthostatic hypotension,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0001895,Normochromic anemia,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0003158,Hyposthenuria,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0007041,Chronic lymphocytic meningitis,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0007987,Progressive visual field defects,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0008163,Decreased circulating cortisol level,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0008202,Reduced circulating prolactin concentration,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0008213,Gonadotropin deficiency,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0008214,Decreased serum estradiol,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0008240,Secondary growth hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0011735,Adrenocorticotropin deficient adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0011748,Adrenocorticotropic hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0012504,Abnormal size of pituitary gland,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0012696,Abnormal thalamic MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0030018,Decreased female libido,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0040171,Decreased serum testosterone concentration,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019284,Orphanet,95512,ORPHA:95512,32,HP:0040306,Decreased male libido,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0000141,Amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0000863,Central diabetes insipidus,Very frequent (99-80%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0000870,Increased circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0000871,Panhypopituitarism,Very frequent (99-80%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0000872,Hashimoto thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0001278,Orthostatic hypotension,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0001895,Normochromic anemia,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0001959,Polydipsia,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0003158,Hyposthenuria,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0007041,Chronic lymphocytic meningitis,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0007987,Progressive visual field defects,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0008163,Decreased circulating cortisol level,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0008202,Reduced circulating prolactin concentration,Occasional (29-5%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0008213,Gonadotropin deficiency,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0008214,Decreased serum estradiol,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0008240,Secondary growth hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0011735,Adrenocorticotropin deficient adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0011748,Adrenocorticotropic hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0011751,Abnormality of the posterior pituitary,Very frequent (99-80%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0012504,Abnormal size of pituitary gland,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0012696,Abnormal thalamic MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0030018,Decreased female libido,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0040171,Decreased serum testosterone concentration,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019285,Orphanet,95513,ORPHA:95513,35,HP:0040306,Decreased male libido,Frequent (79-30%),TAS,,,,"[PMID:14606714, PMID:17273922, PMID:18987830, PMID:23885185, PMID:27008424, PMID:27165294]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0000815,Hypergonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0000845,Elevated circulating growth hormone concentration,Very rare (<4-1%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0000863,Central diabetes insipidus,Very rare (<4-1%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0000870,Increased circulating prolactin concentration,Occasional (29-5%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0000876,Oligomenorrhea,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0001262,Excessive daytime somnolence,Very rare (<4-1%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0001289,Confusion,Very rare (<4-1%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0001895,Normochromic anemia,Very rare (<4-1%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0002339,Abnormal caudate nucleus morphology,Very rare (<4-1%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0002893,Pituitary adenoma,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0002921,Abnormality of the cerebrospinal fluid,Occasional (29-5%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0003118,Increased circulating cortisol level,Very rare (<4-1%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0006824,Cranial nerve paralysis,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0008202,Reduced circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0011499,Mydriasis,Occasional (29-5%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0011748,Adrenocorticotropic hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0030521,Bitemporal hemianopia,Very frequent (99-80%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0030591,Abnormal kinetic perimetry test,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0030595,Abnormal static automated perimetry test,Frequent (79-30%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0030907,Thunderclap headache,Very frequent (99-80%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0040075,Hypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0100661,Trigeminal neuralgia,Very rare (<4-1%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019287,Orphanet,95613,ORPHA:95613,41,HP:0100829,Galactorrhea,Occasional (29-5%),TAS,,,,"[PMID:10684913, PMID:11357158, PMID:12546370, PMID:15879908, PMID:20842779, PMID:21044119, PMID:22491696, PMID:2436600, PMID:25859804, PMID:26414232, PMID:26812964, PMID:2878231, PMID:7608291, PMID:9596029]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0000044,Hypogonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0000141,Amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0000789,Infertility,Occasional (29-5%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0000823,Delayed puberty,Very rare (<4-1%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0000863,Central diabetes insipidus,Very rare (<4-1%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0000871,Panhypopituitarism,Very rare (<4-1%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0001510,Growth delay,Very rare (<4-1%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0002750,Delayed skeletal maturation,Very rare (<4-1%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0002920,Decreased circulating ACTH level,Occasional (29-5%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0005625,Osteoporosis of vertebrae,Occasional (29-5%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0008245,Pituitary hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0008734,Decreased testicular size,Very rare (<4-1%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0009888,Abnormality of secondary sexual hair,Very rare (<4-1%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0010311,Aplasia/Hypoplasia of the breasts,Very rare (<4-1%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019290,Orphanet,95619,ORPHA:95619,20,HP:0040086,Abnormal prolactin level,Occasional (29-5%),TAS,,,,"[PMID:15472187, PMID:16378796, PMID:17467517, PMID:17895459, PMID:18234750, PMID:22090267, PMID:23690314, PMID:24243629, PMID:24635130, PMID:26307884, PMID:4301762]",y,y +GARD:0019291,Orphanet,95626,ORPHA:95626,4,HP:0000873,Diabetes insipidus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019291,Orphanet,95626,ORPHA:95626,4,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0019291,Orphanet,95626,ORPHA:95626,4,HP:0001959,Polydipsia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019291,Orphanet,95626,ORPHA:95626,4,HP:0100515,Pollakisuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019292,Orphanet,95707,ORPHA:95707,3,HP:0000047,Hypospadias,Excluded (0%),TAS,,,,"[PMID:11701709, PMID:12843198, PMID:1929508, PMID:21147889, PMID:2248513, PMID:8559204, PMID:9106076, PMID:9626653]",y,y +GARD:0019292,Orphanet,95707,ORPHA:95707,3,HP:0000054,Micropenis,Obligate (100%),TAS,,,,"[PMID:11701709, PMID:12843198, PMID:1929508, PMID:21147889, PMID:2248513, PMID:8559204, PMID:9106076, PMID:9626653]",y,y +GARD:0019292,Orphanet,95707,ORPHA:95707,3,HP:0000062,Ambiguous genitalia,Excluded (0%),TAS,,,,"[PMID:11701709, PMID:12843198, PMID:1929508, PMID:21147889, PMID:2248513, PMID:8559204, PMID:9106076, PMID:9626653]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0000260,Wide anterior fontanel,Frequent (79-30%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0000853,Goiter,Excluded (0%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0002908,Conjugated hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0002926,Abnormality of thyroid physiology,Frequent (79-30%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0006579,Prolonged neonatal jaundice,Occasional (29-5%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0011437,Maternal autoimmune disease,Very frequent (99-80%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0025379,Anti-thyroid peroxidase antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0025483,Abnormal circulating thyroglobulin level,Occasional (29-5%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0030057,Autoimmune antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0031098,Decreased thyroid-stimulating hormone level,Frequent (79-30%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0031219,Reduced radioactive iodine uptake,Frequent (79-30%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0031507,Decreased circulating T4 level,Frequent (79-30%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0100786,Hypersomnia,Frequent (79-30%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019297,Orphanet,95715,ORPHA:95715,21,HP:0500011,Moon facies,Occasional (29-5%),TAS,,,,"[PMID:11577986, PMID:20537182, PMID:25905261, PMID:31894081]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0000282,Facial edema,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0002045,Hypothermia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0002925,Elevated circulating thyroid-stimulating hormone concentration,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0003265,Neonatal hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0004491,Large posterior fontanelle,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0006579,Prolonged neonatal jaundice,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0008828,Delayed proximal femoral epiphyseal ossification,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0011437,Maternal autoimmune disease,Excluded (0%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0031219,Reduced radioactive iodine uptake,Excluded (0%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0031220,Increased radioactive iodine uptake,Excluded (0%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019298,Orphanet,95717,ORPHA:95717,24,HP:0031507,Decreased circulating T4 level,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:25634148, PMID:26313902, PMID:30324792]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000079,Abnormality of the urinary system,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000311,Round face,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0001651,Dextrocardia,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0002292,Frontal balding,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0002510,Spastic tetraplegia,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0005656,Positional foot deformity,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0005781,Contractures of the large joints,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0006292,Abnormality of dental eruption,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0010487,Small hypothenar eminence,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0011466,Aplasia/Hypoplasia of the gallbladder,Occasional (29-5%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0100710,Impulsivity,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019309,Orphanet,96092,ORPHA:96092,56,HP:0100807,Long fingers,Frequent (79-30%),TAS,,,,"[PMID:10869109, PMID:12225557, PMID:12920085, PMID:16773506, PMID:20880309, PMID:21259039, PMID:24502041, PMID:610424, PMID:8256810, PMID:8599364, http://www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0001651,Dextrocardia,Occasional (29-5%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0002984,Hypoplasia of the radius,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0003022,Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0009777,Absent thumb,Occasional (29-5%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0011466,Aplasia/Hypoplasia of the gallbladder,Occasional (29-5%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019313,Orphanet,96097,ORPHA:96097,30,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,"[PMID:11050625, PMID:16770806, PMID:17955513, PMID:23342975, PMID:445868, PMID:500089, PMID:9070658]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000269,Prominent occiput,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000606,Abnormality of the periorbital region,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000954,Single transverse palmar crease,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0001051,Seborrheic dermatitis,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0001217,Clubbing,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0001386,Joint swelling,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0002858,Meningioma,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0004840,Hypochromic microcytic anemia,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0005272,Prominent nasolabial fold,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0005359,Aplasia of the thymus,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0005781,Contractures of the large joints,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0008070,Sparse hair,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0010541,Cutis gyrata of scalp,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0010785,Gonadal neoplasm,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0045025,Narrow palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0100008,Schwannoma,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0100242,Sarcoma,Frequent (79-30%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019324,Orphanet,96123,ORPHA:96123,40,HP:0100324,Scleroderma,Occasional (29-5%),TAS,,,,"[PMID:10432935, PMID:15588863, PMID:19659869, PMID:24171707, PMID:2770830, PMID:27765635, PMID:7253004, PMID:9511978]",y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0001704,Tricuspid valve prolapse,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0010511,Long toe,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0010562,Keloids,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0010882,Pulmonary valve atresia,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019326,Orphanet,96129,ORPHA:96129,23,HP:0100672,Vaginal hernia,Very frequent (99-80%),TAS,,,,[PMID:19610110],y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000113,Polycystic kidney dysplasia,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000161,Median cleft lip,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000171,Microglossia,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000260,Wide anterior fontanel,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000742,Self-mutilation,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001531,Failure to thrive in infancy,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001611,Nasal speech,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001734,Annular pancreas,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001792,Small nail,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001833,Long foot,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0002003,Large forehead,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0002032,Esophageal atresia,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0002213,Fine hair,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0002247,Duodenal atresia,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0002893,Pituitary adenoma,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0004904,Maturity-onset diabetes of the young,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0005129,Congenital hypertrophy of left ventricle,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0005819,Short middle phalanx of finger,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0005912,Biliary atresia,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0006533,Bronchodysplasia,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0007573,Late onset atopic dermatitis,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0008499,High hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0008513,Bilateral conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0008770,Obsessive-compulsive trait,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0009437,Aplasia/Hypoplasia of the middle phalanx of the 3rd finger,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0009891,Underdeveloped supraorbital ridges,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0009904,Prominent ear helix,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0010055,Broad hallux,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0010818,Generalized tonic seizure,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0011407,Proportionate tall stature,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0012368,Flat face,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019328,Orphanet,96149,ORPHA:96149,76,HP:0012741,Unilateral cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:12121357, PMID:12687666, PMID:16200635, PMID:21457577, PMID:23613162, PMID:25425063]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0000041,Chordee,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0000546,Retinal degeneration,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0000821,Hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0001263,Global developmental delay,Very rare (<4-1%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0001560,Abnormality of the amniotic fluid,Very frequent (99-80%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0003028,Abnormality of the ankles,Frequent (79-30%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0004639,Elevated amniotic fluid alpha-fetoprotein,Frequent (79-30%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0004880,Respiratory infections in early life,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0005781,Contractures of the large joints,Frequent (79-30%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0008209,Premature ovarian insufficiency,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0008440,C1-C2 vertebral abnormality,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0008689,Bilateral cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019331,Orphanet,96179,ORPHA:96179,28,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:11746120, PMID:23167750, PMID:23276565, PMID:24075380, PMID:24243683, PMID:8533806, PMID:8938070, PMID:9178319]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0000011,Neurogenic bladder,Very rare (<4-1%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0000510,Rod-cone dystrophy,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0000580,Pigmentary retinopathy,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0000662,Nyctalopia,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0000873,Diabetes insipidus,Very rare (<4-1%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0001123,Visual field defect,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0001877,Abnormal erythrocyte morphology,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0001927,Acanthocytosis,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0002495,Impaired vibratory sensation,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0002600,Hyporeflexia of lower limbs,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0002630,Fat malabsorption,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0003146,Hypocholesterolemia,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0003563,Decreased LDL cholesterol concentration,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0003707,Calf muscle pseudohypertrophy,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0003722,Neck flexor weakness,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0004395,Malnutrition,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0004905,Low levels of vitamin A,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0006785,Limb-girdle muscular dystrophy,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0008181,Abetalipoproteinemia,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0010831,Impaired proprioception,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0010875,Chaddock reflex,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0011892,Low levels of vitamin K,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0011900,Hypofibrinogenemia,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0100513,Low levels of vitamin E,Frequent (79-30%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019332,Orphanet,96180,ORPHA:96180,39,HP:0100651,Type I diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:10446076, PMID:16331669, PMID:21480868, PMID:22150066, PMID:25994769, PMID:26169481]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0000034,Hydrocele testis,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0000204,Cleft upper lip,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0000510,Rod-cone dystrophy,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0000512,Abnormal electroretinogram,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0002805,Accelerated bone age after puberty,Occasional (29-5%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0003100,Slender long bone,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0005268,Miscarriage,Frequent (79-30%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0008258,Congenital adrenal hyperplasia,Occasional (29-5%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0008665,Clitoral hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019333,Orphanet,96181,ORPHA:96181,21,HP:0030088,Increased serum testosterone level,Occasional (29-5%),TAS,,,,"[PMID:10541311, PMID:11334617, PMID:16470696, PMID:16906568, PMID:20583164, PMID:21166787, PMID:23499059, PMID:25633059, PMID:8655360]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000085,Horseshoe kidney,Very rare (<4-1%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000110,Renal dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000201,Pierre-Robin sequence,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000331,Short chin,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000356,Abnormality of the outer ear,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000855,Insulin resistance,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0001159,Syndactyly,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0001476,Delayed closure of the anterior fontanelle,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0001620,High pitched voice,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0002835,Aspiration,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0003162,Fasting hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0003199,Decreased muscle mass,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0003944,Narrow joint spaces of the elbow,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0004482,Relative macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0008846,Severe intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0010782,Shoulder dimple,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0011094,Increased overbite,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0012412,Premature adrenarche,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0012523,Oral aversion,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0100555,Asymmetric growth,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019334,Orphanet,96182,ORPHA:96182,59,HP:0100633,Esophagitis,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:21954990, PMID:23429302]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0000851,Congenital hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0001558,Decreased fetal movement,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0001795,Hyperconvex nail,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0002546,Incomprehensible speech,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0002999,Patellar dislocation,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0003070,Elbow ankylosis,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0003089,Hamstring contractures,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0003468,Abnormal vertebral morphology,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0007973,Retinal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019335,Orphanet,96183,ORPHA:96183,21,HP:0040188,Osteochondrosis,Very frequent (99-80%),TAS,,,,"[PMID:1433238, PMID:20484477, PMID:8734817]",y,y +GARD:0019339,Orphanet,96190,ORPHA:96190,13,HP:0000075,Renal duplication,Very frequent (99-80%),TAS,,,,"[PMID:16763011, PMID:24458706]",y,y +GARD:0019339,Orphanet,96190,ORPHA:96190,13,HP:0001090,Abnormally large globe,Very frequent (99-80%),TAS,,,,"[PMID:16763011, PMID:24458706]",y,y +GARD:0019339,Orphanet,96190,ORPHA:96190,13,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:16763011, PMID:24458706]",y,y +GARD:0019339,Orphanet,96190,ORPHA:96190,13,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:16763011, PMID:24458706]",y,y +GARD:0019339,Orphanet,96190,ORPHA:96190,13,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,"[PMID:16763011, PMID:24458706]",y,y +GARD:0019339,Orphanet,96190,ORPHA:96190,13,HP:0001684,Secundum atrial septal defect,Very frequent (99-80%),TAS,,,,"[PMID:16763011, PMID:24458706]",y,y +GARD:0019339,Orphanet,96190,ORPHA:96190,13,HP:0002654,Multiple epiphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:16763011, PMID:24458706]",y,y +GARD:0019339,Orphanet,96190,ORPHA:96190,13,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,"[PMID:16763011, PMID:24458706]",y,y +GARD:0019339,Orphanet,96190,ORPHA:96190,13,HP:0004991,Rhizomelic arm shortening,Very frequent (99-80%),TAS,,,,"[PMID:16763011, PMID:24458706]",y,y +GARD:0019339,Orphanet,96190,ORPHA:96190,13,HP:0006385,Short lower limbs,Very frequent (99-80%),TAS,,,,"[PMID:16763011, PMID:24458706]",y,y +GARD:0019339,Orphanet,96190,ORPHA:96190,13,HP:0010593,Abnormality of fibular epiphyses,Very frequent (99-80%),TAS,,,,"[PMID:16763011, PMID:24458706]",y,y +GARD:0019339,Orphanet,96190,ORPHA:96190,13,HP:0011327,Posterior plagiocephaly,Very frequent (99-80%),TAS,,,,"[PMID:16763011, PMID:24458706]",y,y +GARD:0019339,Orphanet,96190,ORPHA:96190,13,HP:0100753,Schizophrenia,Very frequent (99-80%),TAS,,,,"[PMID:16763011, PMID:24458706]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000065,Labial hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000237,Small anterior fontanelle,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000269,Prominent occiput,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000363,Abnormal earlobe morphology,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000586,Shallow orbits,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000826,Precocious puberty,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0000857,Neonatal insulin-dependent diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0001562,Oligohydramnios,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0001640,Cardiomegaly,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0001804,Hypoplastic fingernail,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0002123,Generalized myoclonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0002643,Neonatal respiratory distress,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0010866,Abdominal wall defect,Occasional (29-5%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019340,Orphanet,96191,ORPHA:96191,30,HP:0100767,Abnormal placenta morphology,Occasional (29-5%),TAS,,,,"[PMID:10936046, PMID:11038325, PMID:11334617, PMID:11448939, PMID:11515731, PMID:18486206, PMID:19114626, PMID:20186794, PMID:20412110, PMID:25124546, PMID:9039998, PMID:9894800]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0000637,Long palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0001647,Bicuspid aortic valve,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0001718,Mitral stenosis,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0002616,Aortic root aneurysm,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0007642,Congenital stationary night blindness,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0008209,Premature ovarian insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0009816,Lower limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0009824,Upper limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0010945,Fetal pyelectasis,Occasional (29-5%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0012725,Cutaneous syndactyly,Very frequent (99-80%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019345,Orphanet,96201,ORPHA:96201,40,HP:0400000,Tall chin,Occasional (29-5%),TAS,,,,"[PMID:10982188, PMID:1415351, PMID:7665167, PMID:8079992, PMID:8265665, PMID:8326492]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000709,Psychosis,Obligate (100%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000711,Restlessness,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000738,Hallucinations,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000745,Diminished motivation,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000746,Delusions,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0000751,Personality changes,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0002332,Lack of peer relationships,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0002367,Visual hallucinations,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0002463,Language impairment,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0002591,Polyphagia,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0008763,No social interaction,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0008765,Auditory hallucinations,Very rare (<4-1%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0010865,Oppositional defiant disorder,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0011999,Paranoia,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0012154,Anhedonia,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0025160,Abnormal temper tantrums,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0030018,Decreased female libido,Very rare (<4-1%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0030858,Addictive behavior,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0031354,Sleep onset insomnia,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0031466,Impairment in personality functioning,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0031469,Low self esteem,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0031588,Unhappy demeanor,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0031589,Suicidal ideation,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0040306,Decreased male libido,Very rare (<4-1%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0100754,Mania,Very rare (<4-1%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0100786,Hypersomnia,Very rare (<4-1%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0100851,Abnormal emotion/affect behavior,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019352,Orphanet,96369,ORPHA:96369,42,HP:0100962,Shyness,Occasional (29-5%),TAS,,,,"[PMID:29096206, PMID:30953877, PMID:31139639]",y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0000159,Abnormal lip morphology,Very frequent (99-80%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0001279,Syncope,Very frequent (99-80%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0002018,Nausea,Very frequent (99-80%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0002321,Vertigo,Very frequent (99-80%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0011971,Dermatographic urticaria,Occasional (29-5%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0030809,Abnormal tongue morphology,Very frequent (99-80%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0030828,Wheezing,Very frequent (99-80%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0100326,Immunologic hypersensitivity,Very frequent (99-80%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0100539,Periorbital edema,Very frequent (99-80%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0100665,Angioedema,Very frequent (99-80%),TAS,,,,[PMID:19022098],y,y +GARD:0019353,Orphanet,97230,ORPHA:97230,16,HP:0100845,Anaphylactic shock,Very rare (<4-1%),TAS,,,,[PMID:19022098],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0000467,Neck muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0000473,Torticollis,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0001558,Decreased fetal movement,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0002460,Distal muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0002515,Waddling gait,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0003327,Axial muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0003391,Gowers sign,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0003458,EMG: myopathic abnormalities,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0003551,Difficulty climbing stairs,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0003555,Muscle fiber splitting,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0003701,Proximal muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0003713,Muscle fiber necrosis,Frequent (79-30%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0003715,Myofibrillar myopathy,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0003736,Autophagic vacuoles,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0003798,Nemaline bodies,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0003805,Rimmed vacuoles,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0006785,Limb-girdle muscular dystrophy,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0010628,Facial palsy,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019354,Orphanet,97240,ORPHA:97240,22,HP:0012899,Handgrip myotonia,Very frequent (99-80%),TAS,,,,[PMID:25747004],y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0000820,Abnormality of the thyroid gland,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0000837,Increased circulating gonadotropin level,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0000845,Elevated circulating growth hormone concentration,Very frequent (99-80%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0000870,Increased circulating prolactin concentration,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0001031,Subcutaneous lipoma,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0001046,Intermittent jaundice,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0001406,Intrahepatic cholestasis,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0001438,Abnormal abdomen morphology,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0002044,Zollinger-Ellison syndrome,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0002666,Pheochromocytoma,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0002893,Pituitary adenoma,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0002894,Neoplasm of the pancreas,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0002897,Parathyroid adenoma,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0003118,Increased circulating cortisol level,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0006723,Intestinal carcinoid,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0007410,Palmoplantar hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0008200,Primary hyperparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0008256,Adrenocortical adenoma,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0012334,Extrahepatic cholestasis,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0030144,Hypoactive bowel sounds,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0030145,Lack of bowel sounds,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0100521,Neoplasm of the thymus,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0100526,Neoplasm of the lung,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019356,Orphanet,97261,ORPHA:97261,38,HP:0100833,Neoplasm of the small intestine,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22261919, PMID:22442262, PMID:22983831, PMID:23582916, PMID:26162406, PMID:26742109, PMID:6090497, PMID:6290540, PMID:6292724]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0000820,Abnormality of the thyroid gland,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0000837,Increased circulating gonadotropin level,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0000845,Elevated circulating growth hormone concentration,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0000870,Increased circulating prolactin concentration,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0001031,Subcutaneous lipoma,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0001046,Intermittent jaundice,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0001406,Intrahepatic cholestasis,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0001438,Abnormal abdomen morphology,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0002893,Pituitary adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0002894,Neoplasm of the pancreas,Very frequent (99-80%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0002897,Parathyroid adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0003072,Hypercalcemia,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0003118,Increased circulating cortisol level,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0006723,Intestinal carcinoid,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0008200,Primary hyperparathyroidism,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0008256,Adrenocortical adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0012334,Extrahepatic cholestasis,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0030144,Hypoactive bowel sounds,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0030145,Lack of bowel sounds,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019358,Orphanet,97278,ORPHA:97278,32,HP:0100833,Neoplasm of the small intestine,Very frequent (99-80%),TAS,,,,"[PMID:10940685, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0019359,Orphanet,97285,ORPHA:97285,14,HP:0000475,Broad neck,Very frequent (99-80%),TAS,,,,"[PMID:12417514, PMID:20497878, PMID:23714679, PMID:24077086]",y,y +GARD:0019359,Orphanet,97285,ORPHA:97285,14,HP:0000821,Hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:12417514, PMID:20497878, PMID:23714679, PMID:24077086]",y,y +GARD:0019359,Orphanet,97285,ORPHA:97285,14,HP:0000836,Hyperthyroidism,Occasional (29-5%),TAS,,,,"[PMID:12417514, PMID:20497878, PMID:23714679, PMID:24077086]",y,y +GARD:0019359,Orphanet,97285,ORPHA:97285,14,HP:0000853,Goiter,Obligate (100%),TAS,,,,"[PMID:12417514, PMID:20497878, PMID:23714679, PMID:24077086]",y,y +GARD:0019359,Orphanet,97285,ORPHA:97285,14,HP:0000872,Hashimoto thyroiditis,Frequent (79-30%),TAS,,,,"[PMID:12417514, PMID:20497878, PMID:23714679, PMID:24077086]",y,y +GARD:0019359,Orphanet,97285,ORPHA:97285,14,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,"[PMID:12417514, PMID:20497878, PMID:23714679, PMID:24077086]",y,y +GARD:0019359,Orphanet,97285,ORPHA:97285,14,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:12417514, PMID:20497878, PMID:23714679, PMID:24077086]",y,y +GARD:0019359,Orphanet,97285,ORPHA:97285,14,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:12417514, PMID:20497878, PMID:23714679, PMID:24077086]",y,y +GARD:0019359,Orphanet,97285,ORPHA:97285,14,HP:0002098,Respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:12417514, PMID:20497878, PMID:23714679, PMID:24077086]",y,y +GARD:0019359,Orphanet,97285,ORPHA:97285,14,HP:0002665,Lymphoma,Obligate (100%),TAS,,,,"[PMID:12417514, PMID:20497878, PMID:23714679, PMID:24077086]",y,y +GARD:0019359,Orphanet,97285,ORPHA:97285,14,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:12417514, PMID:20497878, PMID:23714679, PMID:24077086]",y,y +GARD:0019359,Orphanet,97285,ORPHA:97285,14,HP:0002781,Upper airway obstruction,Frequent (79-30%),TAS,,,,"[PMID:12417514, PMID:20497878, PMID:23714679, PMID:24077086]",y,y +GARD:0019359,Orphanet,97285,ORPHA:97285,14,HP:0010307,Stridor,Frequent (79-30%),TAS,,,,"[PMID:12417514, PMID:20497878, PMID:23714679, PMID:24077086]",y,y +GARD:0019359,Orphanet,97285,ORPHA:97285,14,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:12417514, PMID:20497878, PMID:23714679, PMID:24077086]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0000845,Elevated circulating growth hormone concentration,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0001005,Dermatological manifestations of systemic disorders,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0001708,Right ventricular failure,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0001962,Palpitations,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0002099,Asthma,Frequent (79-30%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0002105,Hemoptysis,Frequent (79-30%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0002240,Hepatomegaly,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0002615,Hypotension,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0002730,Chronic noninfectious lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0003118,Increased circulating cortisol level,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0003144,Increased serum serotonin,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0003154,Increased circulating ACTH level,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0004385,Protracted diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0005180,Tricuspid regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0006530,Abnormal pulmonary interstitial morphology,Frequent (79-30%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0007380,Facial telangiectasia,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0012701,Bowel urgency,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0025428,Bronchospasm,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0030149,Cardiogenic shock,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0030166,Night sweats,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0030445,Pulmonary carcinoid tumor,Obligate (100%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0030828,Wheezing,Frequent (79-30%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0031246,Nonproductive cough,Frequent (79-30%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0031566,Abnormal pulmonary valve cusp morphology,Very rare (<4-1%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019360,Orphanet,97287,ORPHA:97287,31,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:11073802, PMID:12371583, PMID:18473355, PMID:22112810, PMID:27373769, PMID:2992742]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0000870,Increased circulating prolactin concentration,Occasional (29-5%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0002730,Chronic noninfectious lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0002893,Pituitary adenoma,Occasional (29-5%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0003118,Increased circulating cortisol level,Frequent (79-30%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0003154,Increased circulating ACTH level,Frequent (79-30%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0004724,Calcium nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0005345,Abnormal vena cava morphology,Frequent (79-30%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0006767,Pituitary prolactin cell adenoma,Occasional (29-5%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0007457,Prominent veins on trunk,Frequent (79-30%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0008200,Primary hyperparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0008261,Pancreatic islet cell adenoma,Occasional (29-5%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0011761,Pituitary null cell adenoma,Occasional (29-5%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0030829,Abnormal breath sound,Frequent (79-30%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0045026,Abnormality of the mediastinum,Very frequent (99-80%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0100521,Neoplasm of the thymus,Obligate (100%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0100568,Neoplasm of the endocrine system,Frequent (79-30%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0100570,Carcinoid tumor,Frequent (79-30%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0100634,Neuroendocrine neoplasm,Obligate (100%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0100721,Mediastinal lymphadenopathy,Very frequent (99-80%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019361,Orphanet,97289,ORPHA:97289,24,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:10086551, PMID:22525409, PMID:26317915, PMID:27785065, PMID:28451004, PMID:6271390]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0001658,Myocardial infarction,Frequent (79-30%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0001695,Cardiac arrest,Frequent (79-30%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0001708,Right ventricular failure,Very rare (<4-1%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0001942,Metabolic acidosis,Occasional (29-5%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0002151,Increased serum lactate,Occasional (29-5%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0003115,Abnormal EKG,Very frequent (99-80%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0003259,Elevated circulating creatinine concentration,Occasional (29-5%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0004372,Reduced consciousness/confusion,Frequent (79-30%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0005162,Abnormal left ventricular function,Very frequent (99-80%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0006670,Impaired myocardial contractility,Frequent (79-30%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0009805,Low-output congestive heart failure,Very frequent (99-80%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0012251,ST segment elevation,Occasional (29-5%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0030830,Crackles,Frequent (79-30%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0030848,Elevated jugular venous pressure,Frequent (79-30%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0030851,Low pulse pressure,Frequent (79-30%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0030876,Increased pulmonary capillary wedge pressure,Frequent (79-30%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019362,Orphanet,97292,ORPHA:97292,25,HP:0100520,Oliguria,Frequent (79-30%),TAS,,,,"[PMID:28923988, PMID:29173681, PMID:29412021]",y,y +GARD:0019364,Orphanet,97335,ORPHA:97335,8,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:27752406, PMID:28593576, PMID:28723024, PMID:30538899, PMID:31019825]",y,y +GARD:0019364,Orphanet,97335,ORPHA:97335,8,HP:0002362,Shuffling gait,Occasional (29-5%),TAS,,,,"[PMID:27752406, PMID:28593576, PMID:28723024, PMID:30538899, PMID:31019825]",y,y +GARD:0019364,Orphanet,97335,ORPHA:97335,8,HP:0003045,Abnormal patella morphology,Frequent (79-30%),TAS,,,,"[PMID:27752406, PMID:28593576, PMID:28723024, PMID:30538899, PMID:31019825]",y,y +GARD:0019364,Orphanet,97335,ORPHA:97335,8,HP:0003066,Limited knee extension,Frequent (79-30%),TAS,,,,"[PMID:27752406, PMID:28593576, PMID:28723024, PMID:30538899, PMID:31019825]",y,y +GARD:0019364,Orphanet,97335,ORPHA:97335,8,HP:0006456,Irregular proximal tibial epiphyses,Frequent (79-30%),TAS,,,,"[PMID:27752406, PMID:28593576, PMID:28723024, PMID:30538899, PMID:31019825]",y,y +GARD:0019364,Orphanet,97335,ORPHA:97335,8,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:27752406, PMID:28593576, PMID:28723024, PMID:30538899, PMID:31019825]",y,y +GARD:0019364,Orphanet,97335,ORPHA:97335,8,HP:0030839,Knee pain,Very frequent (99-80%),TAS,,,,"[PMID:27752406, PMID:28593576, PMID:28723024, PMID:30538899, PMID:31019825]",y,y +GARD:0019364,Orphanet,97335,ORPHA:97335,8,HP:0030866,Large knee,Occasional (29-5%),TAS,,,,"[PMID:27752406, PMID:28593576, PMID:28723024, PMID:30538899, PMID:31019825]",y,y +GARD:0019365,Orphanet,97336,ORPHA:97336,11,HP:0001377,Limited elbow extension,Frequent (79-30%),TAS,,,,"[PMID:25663360, PMID:30483677]",y,y +GARD:0019365,Orphanet,97336,ORPHA:97336,11,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,"[PMID:25663360, PMID:30483677]",y,y +GARD:0019365,Orphanet,97336,ORPHA:97336,11,HP:0001871,Abnormality of blood and blood-forming tissues,Occasional (29-5%),TAS,,,,"[PMID:25663360, PMID:30483677]",y,y +GARD:0019365,Orphanet,97336,ORPHA:97336,11,HP:0002996,Limited elbow movement,Frequent (79-30%),TAS,,,,"[PMID:25663360, PMID:30483677]",y,y +GARD:0019365,Orphanet,97336,ORPHA:97336,11,HP:0003063,Abnormality of the humerus,Frequent (79-30%),TAS,,,,"[PMID:25663360, PMID:30483677]",y,y +GARD:0019365,Orphanet,97336,ORPHA:97336,11,HP:0003945,Irregular articular surfaces of the elbow joints,Occasional (29-5%),TAS,,,,"[PMID:25663360, PMID:30483677]",y,y +GARD:0019365,Orphanet,97336,ORPHA:97336,11,HP:0009810,Abnormality of upper limb joint,Very frequent (99-80%),TAS,,,,"[PMID:25663360, PMID:30483677]",y,y +GARD:0019365,Orphanet,97336,ORPHA:97336,11,HP:0025259,Stiff elbow,Occasional (29-5%),TAS,,,,"[PMID:25663360, PMID:30483677]",y,y +GARD:0019365,Orphanet,97336,ORPHA:97336,11,HP:0030835,Elbow pain,Frequent (79-30%),TAS,,,,"[PMID:25663360, PMID:30483677]",y,y +GARD:0019365,Orphanet,97336,ORPHA:97336,11,HP:0030865,Large elbow,Occasional (29-5%),TAS,,,,"[PMID:25663360, PMID:30483677]",y,y +GARD:0019365,Orphanet,97336,ORPHA:97336,11,HP:0040188,Osteochondrosis,Very frequent (99-80%),TAS,,,,"[PMID:25663360, PMID:30483677]",y,y +GARD:0019366,Orphanet,97337,ORPHA:97337,5,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,"[PMID:18936034, PMID:23396316, PMID:26399331, PMID:721864]",y,y +GARD:0019366,Orphanet,97337,ORPHA:97337,5,HP:0002661,Painless fractures due to injury,Occasional (29-5%),TAS,,,,"[PMID:18936034, PMID:23396316, PMID:26399331, PMID:721864]",y,y +GARD:0019366,Orphanet,97337,ORPHA:97337,5,HP:0010501,Limitation of knee mobility,Frequent (79-30%),TAS,,,,"[PMID:18936034, PMID:23396316, PMID:26399331, PMID:721864]",y,y +GARD:0019366,Orphanet,97337,ORPHA:97337,5,HP:0030839,Knee pain,Very frequent (99-80%),TAS,,,,"[PMID:18936034, PMID:23396316, PMID:26399331, PMID:721864]",y,y +GARD:0019366,Orphanet,97337,ORPHA:97337,5,HP:0040188,Osteochondrosis,Frequent (79-30%),TAS,,,,"[PMID:18936034, PMID:23396316, PMID:26399331, PMID:721864]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0000651,Diplopia,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0000741,Apathy,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0000932,Abnormal posterior cranial fossa morphology,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0001085,Papilledema,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0001269,Hemiparesis,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0001300,Parkinsonism,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0001342,Cerebral hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0001977,Abnormal thrombosis,Frequent (79-30%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0002138,Subarachnoid hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0002167,Neurological speech impairment,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0002181,Cerebral edema,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0002196,Myelopathy,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0002273,Tetraparesis,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0002370,Poor coordination,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0002617,Vascular dilatation,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0004947,Arteriovenous fistula,Frequent (79-30%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0006824,Cranial nerve paralysis,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0007333,Hypoplasia of the frontal lobes,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0007906,Ocular hypertension,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0008629,Pulsatile tinnitus,Frequent (79-30%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0011343,Moderate global developmental delay,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0011695,Cerebellar hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0012375,Chemosis,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0030724,Central nervous system cyst,Frequent (79-30%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0030766,Ear pain,Very rare (<4-1%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0031157,Carotid cavernous fistula,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:0100309,Subdural hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019368,Orphanet,97339,ORPHA:97339,48,HP:3000043,Abnormal facial vein morphology,Occasional (29-5%),TAS,,,,"[PMID:28552162, PMID:29246670, PMID:29726736, PMID:30335307, PMID:31026653, PMID:31267184]",y,y +GARD:0019369,Orphanet,97341,ORPHA:97341,8,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,[PMID:17471331],y,y +GARD:0019369,Orphanet,97341,ORPHA:97341,8,HP:0001103,Abnormal macular morphology,Very frequent (99-80%),TAS,,,,[PMID:17471331],y,y +GARD:0019369,Orphanet,97341,ORPHA:97341,8,HP:0007663,Reduced visual acuity,Obligate (100%),TAS,,,,[PMID:17471331],y,y +GARD:0019369,Orphanet,97341,ORPHA:97341,8,HP:0007750,Hypoplasia of the fovea,Occasional (29-5%),TAS,,,,[PMID:17471331],y,y +GARD:0019369,Orphanet,97341,ORPHA:97341,8,HP:0007814,Retinal pigment epithelial mottling,Occasional (29-5%),TAS,,,,[PMID:17471331],y,y +GARD:0019369,Orphanet,97341,ORPHA:97341,8,HP:0010822,Scintillating scotoma,Occasional (29-5%),TAS,,,,[PMID:17471331],y,y +GARD:0019369,Orphanet,97341,ORPHA:97341,8,HP:0011506,Choroidal neovascularization,Obligate (100%),TAS,,,,[PMID:17471331],y,y +GARD:0019369,Orphanet,97341,ORPHA:97341,8,HP:0012508,Metamorphopsia,Occasional (29-5%),TAS,,,,[PMID:17471331],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0000514,Slow saccadic eye movements,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0000716,Depression,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0001488,Bilateral ptosis,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0001945,Fever,Frequent (79-30%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0002304,Akinesia,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0002315,Headache,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0002322,Resting tremor,Very frequent (99-80%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0002329,Drowsiness,Frequent (79-30%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0002357,Dysphasia,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0002374,Diminished movement,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0002396,Cogwheel rigidity,Frequent (79-30%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0002795,Abnormal respiratory system physiology,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0005329,Fixed facial expression,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0006801,Hyperactive deep tendon reflexes,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0006919,"Abnormal aggressive, impulsive or violent behavior",Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0008765,Auditory hallucinations,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0010553,Oculogyric crisis,Frequent (79-30%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0011446,Abnormality of higher mental function,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0012735,Cough,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0025331,Upgaze palsy,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0025456,Abnormal CSF protein level,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0030188,Tremor by anatomical site,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0040082,Happy demeanor,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0045007,Abnormal substantia nigra morphology,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0100595,Camptocormia,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019370,Orphanet,97349,ORPHA:97349,41,HP:0200149,CSF lymphocytic pleiocytosis,Occasional (29-5%),TAS,,,,[PMID:7299406],y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0000511,Vertical supranuclear gaze palsy,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0000571,Hypometric saccades,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0000727,Frontal lobe dementia,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0000738,Hallucinations,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0001278,Orthostatic hypotension,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0001300,Parkinsonism,Very frequent (99-80%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0002063,Rigidity,Very frequent (99-80%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0002067,Bradykinesia,Very frequent (99-80%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0002186,Apraxia,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0002193,Pseudobulbar behavioral symptoms,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0002345,Action tremor,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0005341,Autonomic bladder dysfunction,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0007045,Midline brain calcifications,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0010549,Weakness due to upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0012753,T2 hypointense basal ganglia,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0030902,Palmomental reflex,Frequent (79-30%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019372,Orphanet,97355,ORPHA:97355,27,HP:0100315,Lewy bodies,Excluded (0%),TAS,,,,"[PMID:11912113, PMID:1210440304, PMID:17303592, PMID:18816693, PMID:18941145, PMID:217621, PMID:29525296]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000060,Clitoral hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000064,Hypoplastic labia minora,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000709,Psychosis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000789,Infertility,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0002871,Central apnea,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0003241,External genital hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0007874,Almond-shaped palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0008770,Obsessive-compulsive trait,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0010627,Anterior pituitary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0011734,Central adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0011787,Central hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0012104,Parietal cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0012105,Occipital cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0012166,Skin-picking,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0012411,Premature pubarche,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0012412,Premature adrenarche,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0012650,Perisylvian polymicrogyria,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0025160,Abnormal temper tantrums,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0030339,Decreased circulating gonadotropin concentration,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0031100,Decreased inhibin B level,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0031169,Postterm pregnancy,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0031507,Decreased circulating T4 level,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0100716,Self-injurious behavior,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0100739,Bulimia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019576,Orphanet,98793,ORPHA:98793,70,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0000748,Inappropriate laughter,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0002046,Heat intolerance,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0004485,Cessation of head growth,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0005469,Flat occiput,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0005484,Secondary microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0010505,Limitation of movement at ankles,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0010808,Protruding tongue,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0011203,EEG with abnormally slow frequencies,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0040082,Happy demeanor,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0040196,Mild microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0100023,Recurrent hand flapping,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0100703,Tongue thrusting,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019577,Orphanet,98794,ORPHA:98794,49,HP:0100738,Abnormal eating behavior,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0002046,Heat intolerance,Occasional (29-5%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0004485,Cessation of head growth,Occasional (29-5%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0005484,Secondary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0007270,Atypical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0010808,Protruding tongue,Frequent (79-30%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0011185,EEG with focal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0025190,Bilateral tonic-clonic seizure with generalized onset,Occasional (29-5%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019578,Orphanet,98795,ORPHA:98795,28,HP:0100703,Tongue thrusting,Frequent (79-30%),TAS,,,,"[PMID:16226874, PMID:20301323, PMID:28647735]",y,y +GARD:0019579,Orphanet,98797,ORPHA:98797,6,HP:0000027,Azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:15749513, PMID:1856945, PMID:3972415]",y,y +GARD:0019579,Orphanet,98797,ORPHA:98797,6,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,"[PMID:15749513, PMID:1856945, PMID:3972415]",y,y +GARD:0019579,Orphanet,98797,ORPHA:98797,6,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,"[PMID:15749513, PMID:1856945, PMID:3972415]",y,y +GARD:0019579,Orphanet,98797,ORPHA:98797,6,HP:0003251,Male infertility,Very frequent (99-80%),TAS,,,,"[PMID:15749513, PMID:1856945, PMID:3972415]",y,y +GARD:0019579,Orphanet,98797,ORPHA:98797,6,HP:0008193,Primary gonadal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:15749513, PMID:1856945, PMID:3972415]",y,y +GARD:0019579,Orphanet,98797,ORPHA:98797,6,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:15749513, PMID:1856945, PMID:3972415]",y,y +GARD:0019580,Orphanet,98798,ORPHA:98798,8,HP:0000027,Azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:1466561, PMID:15150784, PMID:2265826, PMID:3972415, PMID:4751309, PMID:6859108]",y,y +GARD:0019580,Orphanet,98798,ORPHA:98798,8,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,"[PMID:1466561, PMID:15150784, PMID:2265826, PMID:3972415, PMID:4751309, PMID:6859108]",y,y +GARD:0019580,Orphanet,98798,ORPHA:98798,8,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,"[PMID:1466561, PMID:15150784, PMID:2265826, PMID:3972415, PMID:4751309, PMID:6859108]",y,y +GARD:0019580,Orphanet,98798,ORPHA:98798,8,HP:0003248,Gonadal tissue inappropriate for external genitalia or chromosomal sex,Occasional (29-5%),TAS,,,,"[PMID:1466561, PMID:15150784, PMID:2265826, PMID:3972415, PMID:4751309, PMID:6859108]",y,y +GARD:0019580,Orphanet,98798,ORPHA:98798,8,HP:0003251,Male infertility,Very frequent (99-80%),TAS,,,,"[PMID:1466561, PMID:15150784, PMID:2265826, PMID:3972415, PMID:4751309, PMID:6859108]",y,y +GARD:0019580,Orphanet,98798,ORPHA:98798,8,HP:0008193,Primary gonadal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:1466561, PMID:15150784, PMID:2265826, PMID:3972415, PMID:4751309, PMID:6859108]",y,y +GARD:0019580,Orphanet,98798,ORPHA:98798,8,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:1466561, PMID:15150784, PMID:2265826, PMID:3972415, PMID:4751309, PMID:6859108]",y,y +GARD:0019580,Orphanet,98798,ORPHA:98798,8,HP:0012871,Varicocele,Frequent (79-30%),TAS,,,,"[PMID:1466561, PMID:15150784, PMID:2265826, PMID:3972415, PMID:4751309, PMID:6859108]",y,y +GARD:0019585,Orphanet,98826,ORPHA:98826,14,HP:0001873,Thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:27776290, PMID:31005849]",y,y +GARD:0019585,Orphanet,98826,ORPHA:98826,14,HP:0001875,Neutropenia,Very rare (<4-1%),TAS,,,,"[PMID:27776290, PMID:31005849]",y,y +GARD:0019585,Orphanet,98826,ORPHA:98826,14,HP:0001892,Abnormal bleeding,Very rare (<4-1%),TAS,,,,"[PMID:27776290, PMID:31005849]",y,y +GARD:0019585,Orphanet,98826,ORPHA:98826,14,HP:0001895,Normochromic anemia,Occasional (29-5%),TAS,,,,"[PMID:27776290, PMID:31005849]",y,y +GARD:0019585,Orphanet,98826,ORPHA:98826,14,HP:0001897,Normocytic anemia,Occasional (29-5%),TAS,,,,"[PMID:27776290, PMID:31005849]",y,y +GARD:0019585,Orphanet,98826,ORPHA:98826,14,HP:0001972,Macrocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:27776290, PMID:31005849]",y,y +GARD:0019585,Orphanet,98826,ORPHA:98826,14,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:27776290, PMID:31005849]",y,y +GARD:0019585,Orphanet,98826,ORPHA:98826,14,HP:0002863,Myelodysplasia,Very frequent (99-80%),TAS,,,,"[PMID:27776290, PMID:31005849]",y,y +GARD:0019585,Orphanet,98826,ORPHA:98826,14,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,"[PMID:27776290, PMID:31005849]",y,y +GARD:0019585,Orphanet,98826,ORPHA:98826,14,HP:0010972,Anemia of inadequate production,Very frequent (99-80%),TAS,,,,"[PMID:27776290, PMID:31005849]",y,y +GARD:0019585,Orphanet,98826,ORPHA:98826,14,HP:0012133,Erythroid hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:27776290, PMID:31005849]",y,y +GARD:0019585,Orphanet,98826,ORPHA:98826,14,HP:0012150,Single lineage myelodysplasia,Frequent (79-30%),TAS,,,,"[PMID:27776290, PMID:31005849]",y,y +GARD:0019585,Orphanet,98826,ORPHA:98826,14,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:27776290, PMID:31005849]",y,y +GARD:0019585,Orphanet,98826,ORPHA:98826,14,HP:0030872,Abnormal cardiac ventricular function,Occasional (29-5%),TAS,,,,"[PMID:27776290, PMID:31005849]",y,y +GARD:0019586,Orphanet,98827,ORPHA:98827,10,HP:0001871,Abnormality of blood and blood-forming tissues,Frequent (79-30%),TAS,,,,"[PMID:17709138, PMID:26799610, PMID:27039723, PMID:28297619, PMID:30091023, PMID:30555034]",y,y +GARD:0019586,Orphanet,98827,ORPHA:98827,10,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:17709138, PMID:26799610, PMID:27039723, PMID:28297619, PMID:30091023, PMID:30555034]",y,y +GARD:0019586,Orphanet,98827,ORPHA:98827,10,HP:0002863,Myelodysplasia,Very frequent (99-80%),TAS,,,,"[PMID:17709138, PMID:26799610, PMID:27039723, PMID:28297619, PMID:30091023, PMID:30555034]",y,y +GARD:0019586,Orphanet,98827,ORPHA:98827,10,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:17709138, PMID:26799610, PMID:27039723, PMID:28297619, PMID:30091023, PMID:30555034]",y,y +GARD:0019586,Orphanet,98827,ORPHA:98827,10,HP:0004808,Acute myeloid leukemia,Very rare (<4-1%),TAS,,,,"[PMID:17709138, PMID:26799610, PMID:27039723, PMID:28297619, PMID:30091023, PMID:30555034]",y,y +GARD:0019586,Orphanet,98827,ORPHA:98827,10,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,"[PMID:17709138, PMID:26799610, PMID:27039723, PMID:28297619, PMID:30091023, PMID:30555034]",y,y +GARD:0019586,Orphanet,98827,ORPHA:98827,10,HP:0012148,Multiple lineage myelodysplasia,Frequent (79-30%),TAS,,,,"[PMID:17709138, PMID:26799610, PMID:27039723, PMID:28297619, PMID:30091023, PMID:30555034]",y,y +GARD:0019586,Orphanet,98827,ORPHA:98827,10,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:17709138, PMID:26799610, PMID:27039723, PMID:28297619, PMID:30091023, PMID:30555034]",y,y +GARD:0019586,Orphanet,98827,ORPHA:98827,10,HP:0030166,Night sweats,Occasional (29-5%),TAS,,,,"[PMID:17709138, PMID:26799610, PMID:27039723, PMID:28297619, PMID:30091023, PMID:30555034]",y,y +GARD:0019586,Orphanet,98827,ORPHA:98827,10,HP:0045040,Abnormal lactate dehydrogenase level,Frequent (79-30%),TAS,,,,"[PMID:17709138, PMID:26799610, PMID:27039723, PMID:28297619, PMID:30091023, PMID:30555034]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0001025,Urticaria,Frequent (79-30%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0001744,Splenomegaly,Very rare (<4-1%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0002240,Hepatomegaly,Very rare (<4-1%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0002716,Lymphadenopathy,Very rare (<4-1%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0004377,Hematological neoplasm,Excluded (0%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0005561,Abnormality of bone marrow cell morphology,Very frequent (99-80%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0011121,Abnormality of skin morphology,Very frequent (99-80%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0011354,Generalized abnormality of skin,Frequent (79-30%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0012393,Allergy,Frequent (79-30%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0025081,Darier's sign,Frequent (79-30%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0031284,Flushing,Frequent (79-30%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0031408,Increased proportion of CD25+ mast cells,Very frequent (99-80%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0031901,Elevated total serum tryptase,Frequent (79-30%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0032155,Abdominal cramps,Frequent (79-30%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0040186,Maculopapular exanthema,Frequent (79-30%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0100494,Abnormal mast cell morphology,Very frequent (99-80%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0100495,Mastocytosis,Very frequent (99-80%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019595,Orphanet,98848,ORPHA:98848,21,HP:0100845,Anaphylactic shock,Occasional (29-5%),TAS,,,,"[PMID:30536695, PMID:31985050, PMID:32108361]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0001025,Urticaria,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0001880,Eosinophilia,Frequent (79-30%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0001895,Normochromic anemia,Frequent (79-30%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0001897,Normocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0004377,Hematological neoplasm,Very frequent (99-80%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0004398,Peptic ulcer,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0004808,Acute myeloid leukemia,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0005547,Myeloproliferative disorder,Frequent (79-30%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0005550,Chronic lymphatic leukemia,Very rare (<4-1%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0006775,Multiple myeloma,Very rare (<4-1%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0011034,Amyloidosis,Very rare (<4-1%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0011897,Neutrophilia,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0012138,Granulocytic hyperplasia,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0012324,Myeloid leukemia,Very frequent (99-80%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0012325,Chronic myelomonocytic leukemia,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0031020,Bone marrow hypercellularity,Frequent (79-30%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0031284,Flushing,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0031807,Increased basophil count,Occasional (29-5%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0031901,Elevated total serum tryptase,Very frequent (99-80%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019596,Orphanet,98849,ORPHA:98849,45,HP:0100494,Abnormal mast cell morphology,Very frequent (99-80%),TAS,,,,"[PMID:22742558, PMID:30536695, PMID:32398637, PMID:33401724]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0001025,Urticaria,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0001410,Decreased liver function,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0001909,Leukemia,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0001971,Hypersplenism,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0002756,Pathologic fracture,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0004377,Hematological neoplasm,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0011121,Abnormality of skin morphology,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0025142,Constitutional symptom,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0031284,Flushing,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0031408,Increased proportion of CD25+ mast cells,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0031901,Elevated total serum tryptase,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0032155,Abdominal cramps,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0040186,Maculopapular exanthema,Occasional (29-5%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0100494,Abnormal mast cell morphology,Very frequent (99-80%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019597,Orphanet,98850,ORPHA:98850,39,HP:0100845,Anaphylactic shock,Frequent (79-30%),TAS,,,,"[PMID:30504301, PMID:30536695, PMID:31802761]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0000640,Gaze-evoked nystagmus,Occasional (29-5%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0002073,Progressive cerebellar ataxia,Occasional (29-5%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0002174,Postural tremor,Occasional (29-5%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0002310,Orofacial dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0002322,Resting tremor,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0002494,Abnormal rapid eye movement sleep,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0002530,Axial dystonia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0004926,Orthostatic hypotension due to autonomic dysfunction,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0005341,Autonomic bladder dysfunction,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0008652,Autonomic erectile dysfunction,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0010307,Stridor,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0010536,Central sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0012658,Abnormal brain FDG positron emission tomography,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0012670,Orthostatic syncope,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0030015,Female anorgasmia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0030880,Raynaud phenomenon,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019604,Orphanet,98933,ORPHA:98933,30,HP:0100595,Camptocormia,Occasional (29-5%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0001629,Ventricular septal defect,Obligate (100%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0001647,Bicuspid aortic valve,Very rare (<4-1%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0001655,Patent foramen ovale,Very rare (<4-1%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0001659,Aortic regurgitation,Obligate (100%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0001705,Right ventricular outlet tract obstruction,Very rare (<4-1%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0004890,Elevated pulmonary artery pressure,Very rare (<4-1%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0004970,Ascending tubular aorta aneurysm,Occasional (29-5%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0006704,Abnormal coronary artery morphology,Frequent (79-30%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0011645,Dilatation of the sinus of Valsalva,Frequent (79-30%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0011681,Subarterial ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0011682,Perimembranous ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0012663,Mildly reduced ejection fraction,Frequent (79-30%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0025578,Aortic valve prolapse,Very frequent (99-80%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0031567,Abnormal aortic valve cusp morphology,Very frequent (99-80%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0031668,Diastolic heart murmur,Frequent (79-30%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019646,Orphanet,99094,ORPHA:99094,22,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:16638560, PMID:25872409, PMID:27076977, PMID:31240196]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0001667,Right ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0001708,Right ventricular failure,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0001785,Ankle swelling,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0002563,Constrictive pericarditis,Occasional (29-5%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0002617,Vascular dilatation,Occasional (29-5%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0005168,Elevated right atrial pressure,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0006689,Bacterial endocarditis,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0011682,Perimembranous ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0012382,Left-to-right shunt,Very frequent (99-80%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0012398,Peripheral edema,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0030718,Right atrial enlargement,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0030830,Crackles,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0030848,Elevated jugular venous pressure,Occasional (29-5%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0031443,Abnormal tricuspid valve leaflet morphology,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0031664,Systolic heart murmur,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0031667,Holosystolic murmur,Frequent (79-30%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019647,Orphanet,99095,ORPHA:99095,28,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:28511407, PMID:28983172]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000137,Abnormality of the ovary,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000150,Gonadoblastoma,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000471,Gastrointestinal angiodysplasia,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000474,Thickened nuchal skin fold,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000475,Broad neck,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000476,Cystic hygroma,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000758,Abnormal nonverbal communicative behavior,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000842,Hyperinsulinemia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000869,Secondary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000872,Hashimoto thyroiditis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000879,Short sternum,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000914,Shield chest,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000987,Atypical scarring of skin,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0000995,Melanocytic nevus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001394,Cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001395,Hepatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001812,Hyperconvex fingernails,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0001952,Glucose intolerance,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002037,Inflammation of the large intestine,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002608,Celiac disease,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002611,Cholestatic liver disease,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002613,Biliary cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002647,Aortic dissection,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002861,Melanoma,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0002967,Cubitus valgus,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0003067,Madelung deformity,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0003077,Hyperlipidemia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0003492,High urinary gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0003764,Nevus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0004383,Hypoplastic left heart,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0004386,Gastrointestinal inflammation,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0005113,Aortic arch aneurysm,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0005294,Arterial dissection,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0005603,Numerous congenital melanocytic nevi,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0005689,Dermatoglyphic ridges abnormal,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0006438,Enlargement of the distal femoral epiphysis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0006456,Irregular proximal tibial epiphyses,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0006709,Aplasia/Hypoplasia of the nipples,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0008209,Premature ovarian insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0008222,Female infertility,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0008572,External ear malformation,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0008678,Renal hypoplasia/aplasia,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0009118,Aplasia/Hypoplasia of the mandible,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0009759,Neck pterygia,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0010044,Short 4th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0010047,Short 5th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0010510,Hypermobility of toe joints,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0011307,Splayed toes,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0012434,Delayed social development,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0012758,Neurodevelopmental delay,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0012774,Increased upper to lower segment ratio,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0040073,Abnormal forearm bone morphology,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0100625,Enlarged thorax,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019676,Orphanet,99226,ORPHA:99226,114,HP:0100646,Thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000137,Abnormality of the ovary,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000150,Gonadoblastoma,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000471,Gastrointestinal angiodysplasia,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000474,Thickened nuchal skin fold,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000475,Broad neck,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000476,Cystic hygroma,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000758,Abnormal nonverbal communicative behavior,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000842,Hyperinsulinemia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000869,Secondary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000872,Hashimoto thyroiditis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000879,Short sternum,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000914,Shield chest,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000987,Atypical scarring of skin,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0000995,Melanocytic nevus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001394,Cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001395,Hepatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001812,Hyperconvex fingernails,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0001952,Glucose intolerance,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002037,Inflammation of the large intestine,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002608,Celiac disease,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002611,Cholestatic liver disease,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002613,Biliary cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002647,Aortic dissection,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002861,Melanoma,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0002967,Cubitus valgus,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0003067,Madelung deformity,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0003077,Hyperlipidemia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0003492,High urinary gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0003764,Nevus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0004383,Hypoplastic left heart,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0004386,Gastrointestinal inflammation,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0005113,Aortic arch aneurysm,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0005294,Arterial dissection,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0005603,Numerous congenital melanocytic nevi,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0005689,Dermatoglyphic ridges abnormal,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0006438,Enlargement of the distal femoral epiphysis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0006456,Irregular proximal tibial epiphyses,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0006709,Aplasia/Hypoplasia of the nipples,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0008209,Premature ovarian insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0008222,Female infertility,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0008572,External ear malformation,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0008678,Renal hypoplasia/aplasia,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0009118,Aplasia/Hypoplasia of the mandible,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0009759,Neck pterygia,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0010044,Short 4th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0010047,Short 5th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0010510,Hypermobility of toe joints,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0011307,Splayed toes,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0012434,Delayed social development,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0012758,Neurodevelopmental delay,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0012774,Increased upper to lower segment ratio,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0040073,Abnormal forearm bone morphology,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0100625,Enlarged thorax,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019677,Orphanet,99228,ORPHA:99228,114,HP:0100646,Thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000026,Male hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000027,Azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000119,Abnormality of the genitourinary system,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000243,Trigonocephaly,Occasional (29-5%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000262,Turricephaly,Occasional (29-5%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000394,Lop ear,Occasional (29-5%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000744,Low frustration tolerance,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0002500,Abnormal cerebral white matter morphology,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0002761,Generalized joint laxity,Occasional (29-5%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0002788,Recurrent upper respiratory tract infections,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0002967,Cubitus valgus,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0002974,Radioulnar synostosis,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0003241,External genital hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0003782,Eunuchoid habitus,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0003946,Abnormality of the epiphyses of the elbow,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0004237,Large carpal bones,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0008193,Primary gonadal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0009237,Short 5th finger,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0011310,Bridged palmar crease,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0011343,Moderate global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0040019,Finger clinodactyly,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0045058,Abnormality of the testis size,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019679,Orphanet,99330,ORPHA:99330,43,HP:0100710,Impulsivity,Very frequent (99-80%),TAS,,,,"[PMID:12655500, PMID:17159520, PMID:2090319, PMID:3261145, PMID:6491641, PMID:6652949, PMID:7400784, PMID:7471512, PMID:7567329, PMID:8546146, PMID:9805123]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000137,Abnormality of the ovary,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000150,Gonadoblastoma,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000471,Gastrointestinal angiodysplasia,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000474,Thickened nuchal skin fold,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000475,Broad neck,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000476,Cystic hygroma,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000758,Abnormal nonverbal communicative behavior,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000842,Hyperinsulinemia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000869,Secondary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000872,Hashimoto thyroiditis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000879,Short sternum,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000914,Shield chest,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000987,Atypical scarring of skin,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0000995,Melanocytic nevus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001394,Cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001395,Hepatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001812,Hyperconvex fingernails,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0001952,Glucose intolerance,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002037,Inflammation of the large intestine,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002608,Celiac disease,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002611,Cholestatic liver disease,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002613,Biliary cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002647,Aortic dissection,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002861,Melanoma,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0002967,Cubitus valgus,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0003067,Madelung deformity,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0003077,Hyperlipidemia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0003492,High urinary gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0003764,Nevus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0004383,Hypoplastic left heart,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0004386,Gastrointestinal inflammation,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0005113,Aortic arch aneurysm,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0005294,Arterial dissection,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0005603,Numerous congenital melanocytic nevi,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0005689,Dermatoglyphic ridges abnormal,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0006438,Enlargement of the distal femoral epiphysis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0006456,Irregular proximal tibial epiphyses,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0006709,Aplasia/Hypoplasia of the nipples,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0008209,Premature ovarian insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0008222,Female infertility,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0008572,External ear malformation,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0008678,Renal hypoplasia/aplasia,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0009118,Aplasia/Hypoplasia of the mandible,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0009759,Neck pterygia,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0010044,Short 4th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0010047,Short 5th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0010510,Hypermobility of toe joints,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0011307,Splayed toes,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0012434,Delayed social development,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0012758,Neurodevelopmental delay,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0012774,Increased upper to lower segment ratio,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0040073,Abnormal forearm bone morphology,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0100625,Enlarged thorax,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019681,Orphanet,99413,ORPHA:99413,114,HP:0100646,Thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0002251,Aganglionic megacolon,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0003355,Aminoaciduria,Occasional (29-5%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0003468,Abnormal vertebral morphology,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0003508,Proportionate short stature,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019683,Orphanet,99688,ORPHA:99688,17,HP:0030055,Hyperconvex toenail,Very frequent (99-80%),TAS,,,,[PMID:1456297],y,y +GARD:0019687,Orphanet,99771,ORPHA:99771,4,HP:0000193,Bifid uvula,Obligate (100%),TAS,,,,"[PMID:1121242, PMID:18614778, PMID:24360809, PMID:3975126]",y,y +GARD:0019687,Orphanet,99771,ORPHA:99771,4,HP:0008376,"Nasal, dysarthic speech",Frequent (79-30%),TAS,,,,"[PMID:1121242, PMID:18614778, PMID:24360809, PMID:3975126]",y,y +GARD:0019687,Orphanet,99771,ORPHA:99771,4,HP:0011819,Submucous cleft soft palate,Occasional (29-5%),TAS,,,,"[PMID:1121242, PMID:18614778, PMID:24360809, PMID:3975126]",y,y +GARD:0019687,Orphanet,99771,ORPHA:99771,4,HP:0410030,Cleft lip,Occasional (29-5%),TAS,,,,"[PMID:1121242, PMID:18614778, PMID:24360809, PMID:3975126]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0000282,Facial edema,Occasional (29-5%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0003496,Increased circulating IgM level,Very frequent (99-80%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0005268,Miscarriage,Very frequent (99-80%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0020071,Viremia,Very frequent (99-80%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0025406,Asthenia,Very frequent (99-80%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0025439,Pharyngitis,Frequent (79-30%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0031273,Shock,Occasional (29-5%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0100520,Oliguria,Occasional (29-5%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019688,Orphanet,99824,ORPHA:99824,28,HP:0400008,Menometrorrhagia,Very frequent (99-80%),TAS,,,,"[PMID:28701331, PMID:31518896, PMID:32125412]",y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0000751,Personality changes,Occasional (29-5%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0001259,Coma,Occasional (29-5%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0002383,Infectious encephalitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0012735,Cough,Occasional (29-5%),TAS,,,,,y,y +GARD:0019689,Orphanet,99825,ORPHA:99825,17,HP:0100776,Recurrent pharyngitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000031,Epididymitis,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000093,Proteinuria,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000573,Retinal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000720,Mood swings,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000846,Adrenal insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001082,Cholecystitis,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001541,Ascites,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001698,Pericardial effusion,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001735,Acute pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001876,Pancytopenia,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002092,Pulmonary arterial hypertension,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002248,Hematemesis,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002249,Melena,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0002829,Arthralgia,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0003237,Increased circulating IgG level,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0003496,Increased circulating IgM level,Very frequent (99-80%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0003645,Prolonged partial thromboplastin time,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0005162,Abnormal left ventricular function,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0007420,Spontaneous hematomas,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0011029,Internal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0011710,Bundle branch block,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0011850,Parotitis,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0011854,Hemoperitoneum,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0011896,Subconjunctival hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0011897,Neutrophilia,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0012151,Hemothorax,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0012219,Erythema nodosum,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0012282,Morbilliform rash,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0012819,Myocarditis,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0020071,Viremia,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0025258,Stiff neck,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0025420,Diffuse alveolar hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0030005,Capillary leak,Very frequent (99-80%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0030833,Neck pain,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0031218,Inappropriate antidiuretic hormone secretion,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0031364,Ecchymosis,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0032198,Decreased prothrombin time,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0100247,Recurrent singultus,Occasional (29-5%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0100309,Subdural hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0100796,Orchitis,Very rare (<4-1%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019690,Orphanet,99827,ORPHA:99827,78,HP:0200026,Ocular pain,Frequent (79-30%),TAS,,,,"[PMID:30666932, PMID:31607406, PMID:32024724]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0000224,Hypogeusia,Frequent (79-30%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0001283,Bulbar palsy,Occasional (29-5%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0002073,Progressive cerebellar ataxia,Occasional (29-5%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0002858,Meningioma,Occasional (29-5%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0003396,Syringomyelia,Obligate (100%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0003409,Distal sensory impairment of all modalities,Occasional (29-5%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0003418,Back pain,Frequent (79-30%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0003473,Fatigable weakness,Frequent (79-30%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0006824,Cranial nerve paralysis,Frequent (79-30%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0007024,Pseudobulbar paralysis,Occasional (29-5%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0007209,Facial paralysis,Frequent (79-30%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0007305,CNS demyelination,Occasional (29-5%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0010532,Paroxysmal vertigo,Frequent (79-30%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0010550,Paraplegia,Frequent (79-30%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0010871,Sensory ataxia,Frequent (79-30%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0012229,CSF pleocytosis,Frequent (79-30%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0040272,Hyperintensity of MRI T2 signal of the spinal cord,Very frequent (99-80%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019692,Orphanet,99857,ORPHA:99857,26,HP:0100518,Dysuria,Occasional (29-5%),TAS,,,,"[PMID:10967183, PMID:11239955, PMID:12181709, PMID:19991056, PMID:2377746]",y,y +GARD:0019695,Orphanet,99868,ORPHA:99868,13,HP:0000969,Edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0019695,Orphanet,99868,ORPHA:99868,13,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0019695,Orphanet,99868,ORPHA:99868,13,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0019695,Orphanet,99868,ORPHA:99868,13,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0019695,Orphanet,99868,ORPHA:99868,13,HP:0003473,Fatigable weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0019695,Orphanet,99868,ORPHA:99868,13,HP:0005345,Abnormal vena cava morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0019695,Orphanet,99868,ORPHA:99868,13,HP:0006597,Diaphragmatic paralysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0019695,Orphanet,99868,ORPHA:99868,13,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0019695,Orphanet,99868,ORPHA:99868,13,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0019695,Orphanet,99868,ORPHA:99868,13,HP:0100521,Neoplasm of the thymus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019695,Orphanet,99868,ORPHA:99868,13,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0019695,Orphanet,99868,ORPHA:99868,13,HP:0100721,Mediastinal lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019695,Orphanet,99868,ORPHA:99868,13,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000141,Amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000709,Psychosis,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000725,Psychotic episodes,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000819,Diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000869,Secondary amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000876,Oligomenorrhea,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0001050,Plethora,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0001058,Poor wound healing,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0001061,Acne,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0001065,Striae distensae,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0001626,Abnormality of the cardiovascular system,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0001956,Truncal obesity,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0002209,Sparse scalp hair,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0002666,Pheochromocytoma,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0002690,Large sella turcica,Excluded (0%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0002733,Abnormality of the lymph nodes,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0002865,Medullary thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0002953,Vertebral compression fracture,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0003118,Increased circulating cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0003154,Increased circulating ACTH level,Very frequent (99-80%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0003466,Paradoxical increased cortisol secretion on dexamethasone suppression test,Very frequent (99-80%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0004324,Increased body weight,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0006722,Small intestine carcinoid,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0006725,Pancreatic adenocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0006749,Malignant gastrointestinal tract tumors,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0006753,Neoplasm of the stomach,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0007126,Proximal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0008221,Adrenal hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0008291,Pituitary corticotropic cell adenoma,Excluded (0%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0010284,Intra-oral hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0010741,Pedal edema,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0011370,Recurrent cutaneous fungal infections,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0011999,Paranoia,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0012030,Increased urinary cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0012125,Prostate cancer,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0012398,Peripheral edema,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0012743,Abdominal obesity,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0025017,Capillary fragility,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0025269,Panic attack,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0025383,Dorsocervical fat pad,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0025406,Asthenia,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0030200,Fatiguable weakness of proximal limb muscles,Very frequent (99-80%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0030348,Increased circulating androgen concentration,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0030357,Small cell lung carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0030405,Pancreatic endocrine tumor,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0030445,Pulmonary carcinoid tumor,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0030446,Atypical pulmonary carcinoid tumor,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0031284,Flushing,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0031364,Ecchymosis,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0031589,Suicidal ideation,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0031845,Abnormal libido,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0031891,Decreased eosinophil count,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0040270,Impaired glucose tolerance,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0100521,Neoplasm of the thymus,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0100634,Neuroendocrine neoplasm,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0100757,Pancreatoblastoma,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0100785,Insomnia,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0500011,Moon facies,Frequent (79-30%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019698,Orphanet,99889,ORPHA:99889,83,HP:0500167,Hypergastrinemia,Very rare (<4-1%),TAS,,,,"[PMID:25353285, PMID:26018709, PMID:27104844, PMID:27974908, PMID:28341725, PMID:31038596, PMID:32785672, PMID:33329407]",y,y +GARD:0019711,Orphanet,99925,ORPHA:99925,2,HP:0011433,High maternal serum chorionic gonadotropin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019711,Orphanet,99925,ORPHA:99925,2,HP:0400008,Menometrorrhagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019712,Orphanet,99926,ORPHA:99926,6,HP:0002664,Neoplasm,Very frequent (99-80%),TAS,,,,[PMID:23999759],y,y +GARD:0019712,Orphanet,99926,ORPHA:99926,6,HP:0005268,Miscarriage,Very frequent (99-80%),TAS,,,,[PMID:23999759],y,y +GARD:0019712,Orphanet,99926,ORPHA:99926,6,HP:0011433,High maternal serum chorionic gonadotropin,Very frequent (99-80%),TAS,,,,[PMID:23999759],y,y +GARD:0019712,Orphanet,99926,ORPHA:99926,6,HP:0031502,Trophoblastic tumor,Very frequent (99-80%),TAS,,,,[PMID:23999759],y,y +GARD:0019712,Orphanet,99926,ORPHA:99926,6,HP:0100608,Metrorrhagia,Very frequent (99-80%),TAS,,,,[PMID:23999759],y,y +GARD:0019712,Orphanet,99926,ORPHA:99926,6,HP:0100768,Choriocarcinoma,Obligate (100%),TAS,,,,[PMID:23999759],y,y +GARD:0019718,Orphanet,99965,ORPHA:99965,14,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:17443046, PMID:30409480]",y,y +GARD:0019718,Orphanet,99965,ORPHA:99965,14,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:17443046, PMID:30409480]",y,y +GARD:0019718,Orphanet,99965,ORPHA:99965,14,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,"[PMID:17443046, PMID:30409480]",y,y +GARD:0019718,Orphanet,99965,ORPHA:99965,14,HP:0003444,EMG: chronic denervation signs,Frequent (79-30%),TAS,,,,"[PMID:17443046, PMID:30409480]",y,y +GARD:0019718,Orphanet,99965,ORPHA:99965,14,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:17443046, PMID:30409480]",y,y +GARD:0019718,Orphanet,99965,ORPHA:99965,14,HP:0003474,Somatic sensory dysfunction,Excluded (0%),TAS,,,,"[PMID:17443046, PMID:30409480]",y,y +GARD:0019718,Orphanet,99965,ORPHA:99965,14,HP:0003484,Upper limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:17443046, PMID:30409480]",y,y +GARD:0019718,Orphanet,99965,ORPHA:99965,14,HP:0006827,Atrophy of the spinal cord,Frequent (79-30%),TAS,,,,"[PMID:17443046, PMID:30409480]",y,y +GARD:0019718,Orphanet,99965,ORPHA:99965,14,HP:0008954,Intrinsic hand muscle atrophy,Very frequent (99-80%),TAS,,,,"[PMID:17443046, PMID:30409480]",y,y +GARD:0019718,Orphanet,99965,ORPHA:99965,14,HP:0010702,Increased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:17443046, PMID:30409480]",y,y +GARD:0019718,Orphanet,99965,ORPHA:99965,14,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:17443046, PMID:30409480]",y,y +GARD:0019718,Orphanet,99965,ORPHA:99965,14,HP:0030237,Hand muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:17443046, PMID:30409480]",y,y +GARD:0019718,Orphanet,99965,ORPHA:99965,14,HP:0031372,Cold paresis,Frequent (79-30%),TAS,,,,"[PMID:17443046, PMID:30409480]",y,y +GARD:0019718,Orphanet,99965,ORPHA:99965,14,HP:0040272,Hyperintensity of MRI T2 signal of the spinal cord,Excluded (0%),TAS,,,,"[PMID:17443046, PMID:30409480]",y,y +GARD:0019719,Orphanet,99969,ORPHA:99969,2,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,[PMID:10778771],y,y +GARD:0019719,Orphanet,99969,ORPHA:99969,2,HP:0012034,Liposarcoma,Obligate (100%),TAS,,,,[PMID:10778771],y,y +GARD:0019721,Orphanet,99971,ORPHA:99971,3,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019721,Orphanet,99971,ORPHA:99971,3,HP:0002579,Gastrointestinal dysmotility,Occasional (29-5%),TAS,,,,,y,y +GARD:0019721,Orphanet,99971,ORPHA:99971,3,HP:0012211,Abnormal renal physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0019741,Orphanet,100024,ORPHA:100024,13,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,[PMID:15203869],y,y +GARD:0019741,Orphanet,100024,ORPHA:100024,13,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,[PMID:15203869],y,y +GARD:0019741,Orphanet,100024,ORPHA:100024,13,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,[PMID:15203869],y,y +GARD:0019741,Orphanet,100024,ORPHA:100024,13,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,[PMID:15203869],y,y +GARD:0019741,Orphanet,100024,ORPHA:100024,13,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,[PMID:15203869],y,y +GARD:0019741,Orphanet,100024,ORPHA:100024,13,HP:0001945,Fever,Frequent (79-30%),TAS,,,,[PMID:15203869],y,y +GARD:0019741,Orphanet,100024,ORPHA:100024,13,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,[PMID:15203869],y,y +GARD:0019741,Orphanet,100024,ORPHA:100024,13,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,[PMID:15203869],y,y +GARD:0019741,Orphanet,100024,ORPHA:100024,13,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,[PMID:15203869],y,y +GARD:0019741,Orphanet,100024,ORPHA:100024,13,HP:0005561,Abnormality of bone marrow cell morphology,Very frequent (99-80%),TAS,,,,[PMID:15203869],y,y +GARD:0019741,Orphanet,100024,ORPHA:100024,13,HP:0010702,Increased circulating antibody level,Very frequent (99-80%),TAS,,,,[PMID:15203869],y,y +GARD:0019741,Orphanet,100024,ORPHA:100024,13,HP:0010975,Abnormal B cell count,Very frequent (99-80%),TAS,,,,[PMID:15203869],y,y +GARD:0019741,Orphanet,100024,ORPHA:100024,13,HP:0030156,Bence Jones Proteinuria,Frequent (79-30%),TAS,,,,[PMID:15203869],y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0002244,Abnormality of the small intestine,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0002901,Hypocalcemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0002961,Dysgammaglobulinemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019742,Orphanet,100025,ORPHA:100025,16,HP:0008209,Premature ovarian insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0019749,Orphanet,100073,ORPHA:100073,8,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0019749,Orphanet,100073,ORPHA:100073,8,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0019749,Orphanet,100073,ORPHA:100073,8,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0019749,Orphanet,100073,ORPHA:100073,8,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019749,Orphanet,100073,ORPHA:100073,8,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019749,Orphanet,100073,ORPHA:100073,8,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019749,Orphanet,100073,ORPHA:100073,8,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019749,Orphanet,100073,ORPHA:100073,8,HP:0012534,Dysesthesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0001005,Dermatological manifestations of systemic disorders,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0001708,Right ventricular failure,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0001891,Iron deficiency anemia,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0001962,Palpitations,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0002044,Zollinger-Ellison syndrome,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0002248,Hematemesis,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0002249,Melena,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0002254,Intermittent diarrhea,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0002615,Hypotension,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0002668,Paraganglioma,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0002730,Chronic noninfectious lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0003144,Increased serum serotonin,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0003154,Increased circulating ACTH level,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0004385,Protracted diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0005180,Tricuspid regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0007380,Facial telangiectasia,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0012701,Bowel urgency,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0025085,Bloody diarrhea,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0025428,Bronchospasm,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0030145,Lack of bowel sounds,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0030149,Cardiogenic shock,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0030446,Atypical pulmonary carcinoid tumor,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0031566,Abnormal pulmonary valve cusp morphology,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019750,Orphanet,100075,ORPHA:100075,32,HP:0100570,Carcinoid tumor,Obligate (100%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0000126,Hydronephrosis,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0000845,Elevated circulating growth hormone concentration,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0000969,Edema,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0001005,Dermatological manifestations of systemic disorders,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0001642,Pulmonic stenosis,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0001708,Right ventricular failure,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0001891,Iron deficiency anemia,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0001899,Increased hematocrit,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0001962,Palpitations,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0002044,Zollinger-Ellison syndrome,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0002248,Hematemesis,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0002249,Melena,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0002254,Intermittent diarrhea,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0002572,Episodic vomiting,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0002615,Hypotension,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0002668,Paraganglioma,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0003148,Elevated serum acid phosphatase,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0003154,Increased circulating ACTH level,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0004796,Gastrointestinal obstruction,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0005249,Functional intestinal obstruction,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0006575,Intrahepatic cholestasis with episodic jaundice,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0006723,Intestinal carcinoid,Obligate (100%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0010446,Tricuspid stenosis,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0012197,Insulinoma,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0012334,Extrahepatic cholestasis,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0025428,Bronchospasm,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0030149,Cardiogenic shock,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0030404,Glucagonoma,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019751,Orphanet,100076,ORPHA:100076,35,HP:0100819,Intestinal fistula,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:21424696, PMID:22052063, PMID:22262004, PMID:22997445, PMID:24415864, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0000126,Hydronephrosis,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0000969,Edema,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0001005,Dermatological manifestations of systemic disorders,Very frequent (99-80%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0001642,Pulmonic stenosis,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0001708,Right ventricular failure,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0001891,Iron deficiency anemia,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0001962,Palpitations,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0002044,Zollinger-Ellison syndrome,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0002254,Intermittent diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0002572,Episodic vomiting,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0002574,Episodic abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0002615,Hypotension,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0003144,Increased serum serotonin,Very frequent (99-80%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0003148,Elevated serum acid phosphatase,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0004796,Gastrointestinal obstruction,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0005249,Functional intestinal obstruction,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0006722,Small intestine carcinoid,Obligate (100%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0010446,Tricuspid stenosis,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0012334,Extrahepatic cholestasis,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0012432,Chronic fatigue,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0025324,Arterial occlusion,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0025426,Abnormal bronchus morphology,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0030142,Abnormal bowel sounds,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0030149,Cardiogenic shock,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019752,Orphanet,100077,ORPHA:100077,31,HP:0100819,Intestinal fistula,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0000126,Hydronephrosis,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0000969,Edema,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0001005,Dermatological manifestations of systemic disorders,Very frequent (99-80%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0001642,Pulmonic stenosis,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0001708,Right ventricular failure,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0001891,Iron deficiency anemia,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0001962,Palpitations,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0002044,Zollinger-Ellison syndrome,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0002254,Intermittent diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0002572,Episodic vomiting,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0002574,Episodic abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0002615,Hypotension,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0003144,Increased serum serotonin,Very frequent (99-80%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0003148,Elevated serum acid phosphatase,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0004796,Gastrointestinal obstruction,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0005249,Functional intestinal obstruction,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0006722,Small intestine carcinoid,Obligate (100%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0010446,Tricuspid stenosis,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0012334,Extrahepatic cholestasis,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0012432,Chronic fatigue,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0025324,Arterial occlusion,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0025426,Abnormal bronchus morphology,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0030142,Abnormal bowel sounds,Frequent (79-30%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0030149,Cardiogenic shock,Very rare (<4-1%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019753,Orphanet,100078,ORPHA:100078,31,HP:0100819,Intestinal fistula,Occasional (29-5%),TAS,,,,"[PMID:18097129, PMID:18941127, PMID:22052063, PMID:22262004, PMID:22997445, PMID:26511392, PMID:9070484]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0001579,Primary hypercortisolism,Very rare (<4-1%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0001962,Palpitations,Very rare (<4-1%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0002099,Asthma,Very rare (<4-1%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0002615,Hypotension,Very rare (<4-1%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0002730,Chronic noninfectious lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0003144,Increased serum serotonin,Very rare (<4-1%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0003148,Elevated serum acid phosphatase,Occasional (29-5%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0004385,Protracted diarrhea,Occasional (29-5%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0005211,Midgut malrotation,Very rare (<4-1%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0005249,Functional intestinal obstruction,Frequent (79-30%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0006723,Intestinal carcinoid,Obligate (100%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0010446,Tricuspid stenosis,Very rare (<4-1%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0010676,Mechanical ileus,Frequent (79-30%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0011749,Adrenocorticotropic hormone excess,Very rare (<4-1%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0011848,Abdominal colic,Frequent (79-30%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0012701,Bowel urgency,Frequent (79-30%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0030142,Abnormal bowel sounds,Frequent (79-30%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0030144,Hypoactive bowel sounds,Frequent (79-30%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0030148,Heart murmur,Very rare (<4-1%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0030412,Ileal adenocarcinoma,Occasional (29-5%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0031499,Appendiceal mucinous neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0040276,Adenocarcinoma of the colon,Occasional (29-5%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019754,Orphanet,100079,ORPHA:100079,30,HP:0100615,Ovarian neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:10323177, PMID:10352529, PMID:10832290, PMID:12115365, PMID:14047627, PMID:17082811, PMID:18887660, PMID:19363829, PMID:20631606, PMID:21741512, PMID:22052063, PMID:23049637, PMID:25840530, PMID:26774818, PMID:27306228, PMID:27311320, PMID:28326748, PMID:8466309]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0001708,Right ventricular failure,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0002249,Melena,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0002730,Chronic noninfectious lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0003144,Increased serum serotonin,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0004385,Protracted diarrhea,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0007380,Facial telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0012701,Bowel urgency,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0025085,Bloody diarrhea,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0025428,Bronchospasm,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0030144,Hypoactive bowel sounds,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0030145,Lack of bowel sounds,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0030446,Atypical pulmonary carcinoid tumor,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0031566,Abnormal pulmonary valve cusp morphology,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019755,Orphanet,100080,ORPHA:100080,22,HP:0100570,Carcinoid tumor,Obligate (100%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0001708,Right ventricular failure,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0001962,Palpitations,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0002249,Melena,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0002573,Hematochezia,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0002615,Hypotension,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0002730,Chronic noninfectious lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0003144,Increased serum serotonin,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0004385,Protracted diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0005180,Tricuspid regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0007380,Facial telangiectasia,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0012701,Bowel urgency,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0012702,Tenesmus,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0025085,Bloody diarrhea,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0025428,Bronchospasm,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0030144,Hypoactive bowel sounds,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0030145,Lack of bowel sounds,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0030446,Atypical pulmonary carcinoid tumor,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0031566,Abnormal pulmonary valve cusp morphology,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019756,Orphanet,100081,ORPHA:100081,25,HP:0100570,Carcinoid tumor,Obligate (100%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0001708,Right ventricular failure,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0001962,Palpitations,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0002249,Melena,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0002573,Hematochezia,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0002615,Hypotension,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0002730,Chronic noninfectious lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0003144,Increased serum serotonin,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0004385,Protracted diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0005180,Tricuspid regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0007380,Facial telangiectasia,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0012701,Bowel urgency,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0012702,Tenesmus,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0025085,Bloody diarrhea,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0025428,Bronchospasm,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0030144,Hypoactive bowel sounds,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0030145,Lack of bowel sounds,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0030446,Atypical pulmonary carcinoid tumor,Frequent (79-30%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0031566,Abnormal pulmonary valve cusp morphology,Very rare (<4-1%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019757,Orphanet,100082,ORPHA:100082,25,HP:0100570,Carcinoid tumor,Obligate (100%),TAS,,,,"[PMID:15213627, PMID:1568162, PMID:16913162, PMID:18490556, PMID:20664474, PMID:22052063, PMID:24163193, PMID:24412088, PMID:24468036, PMID:24763982, PMID:27175651]",y,y +GARD:0019758,Orphanet,100083,ORPHA:100083,14,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,"[PMID:1659825, PMID:18417860, PMID:1845268, PMID:19536850, PMID:23397787, PMID:23521413, PMID:24596175, PMID:2692106]",y,y +GARD:0019758,Orphanet,100083,ORPHA:100083,14,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:1659825, PMID:18417860, PMID:1845268, PMID:19536850, PMID:23397787, PMID:23521413, PMID:24596175, PMID:2692106]",y,y +GARD:0019758,Orphanet,100083,ORPHA:100083,14,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:1659825, PMID:18417860, PMID:1845268, PMID:19536850, PMID:23397787, PMID:23521413, PMID:24596175, PMID:2692106]",y,y +GARD:0019758,Orphanet,100083,ORPHA:100083,14,HP:0002730,Chronic noninfectious lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:1659825, PMID:18417860, PMID:1845268, PMID:19536850, PMID:23397787, PMID:23521413, PMID:24596175, PMID:2692106]",y,y +GARD:0019758,Orphanet,100083,ORPHA:100083,14,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:1659825, PMID:18417860, PMID:1845268, PMID:19536850, PMID:23397787, PMID:23521413, PMID:24596175, PMID:2692106]",y,y +GARD:0019758,Orphanet,100083,ORPHA:100083,14,HP:0003144,Increased serum serotonin,Frequent (79-30%),TAS,,,,"[PMID:1659825, PMID:18417860, PMID:1845268, PMID:19536850, PMID:23397787, PMID:23521413, PMID:24596175, PMID:2692106]",y,y +GARD:0019758,Orphanet,100083,ORPHA:100083,14,HP:0003528,Elevated calcitonin,Frequent (79-30%),TAS,,,,"[PMID:1659825, PMID:18417860, PMID:1845268, PMID:19536850, PMID:23397787, PMID:23521413, PMID:24596175, PMID:2692106]",y,y +GARD:0019758,Orphanet,100083,ORPHA:100083,14,HP:0011749,Adrenocorticotropic hormone excess,Very rare (<4-1%),TAS,,,,"[PMID:1659825, PMID:18417860, PMID:1845268, PMID:19536850, PMID:23397787, PMID:23521413, PMID:24596175, PMID:2692106]",y,y +GARD:0019758,Orphanet,100083,ORPHA:100083,14,HP:0012432,Chronic fatigue,Frequent (79-30%),TAS,,,,"[PMID:1659825, PMID:18417860, PMID:1845268, PMID:19536850, PMID:23397787, PMID:23521413, PMID:24596175, PMID:2692106]",y,y +GARD:0019758,Orphanet,100083,ORPHA:100083,14,HP:0031029,Elevated carcinoembryonic antigen level,Very rare (<4-1%),TAS,,,,"[PMID:1659825, PMID:18417860, PMID:1845268, PMID:19536850, PMID:23397787, PMID:23521413, PMID:24596175, PMID:2692106]",y,y +GARD:0019758,Orphanet,100083,ORPHA:100083,14,HP:0031218,Inappropriate antidiuretic hormone secretion,Very rare (<4-1%),TAS,,,,"[PMID:1659825, PMID:18417860, PMID:1845268, PMID:19536850, PMID:23397787, PMID:23521413, PMID:24596175, PMID:2692106]",y,y +GARD:0019758,Orphanet,100083,ORPHA:100083,14,HP:0100605,Neoplasm of the larynx,Obligate (100%),TAS,,,,"[PMID:1659825, PMID:18417860, PMID:1845268, PMID:19536850, PMID:23397787, PMID:23521413, PMID:24596175, PMID:2692106]",y,y +GARD:0019758,Orphanet,100083,ORPHA:100083,14,HP:0100634,Neuroendocrine neoplasm,Obligate (100%),TAS,,,,"[PMID:1659825, PMID:18417860, PMID:1845268, PMID:19536850, PMID:23397787, PMID:23521413, PMID:24596175, PMID:2692106]",y,y +GARD:0019758,Orphanet,100083,ORPHA:100083,14,HP:0200136,Oral-pharyngeal dysphagia,Frequent (79-30%),TAS,,,,"[PMID:1659825, PMID:18417860, PMID:1845268, PMID:19536850, PMID:23397787, PMID:23521413, PMID:24596175, PMID:2692106]",y,y +GARD:0019759,Orphanet,100084,ORPHA:100084,11,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,"[PMID:15635584, PMID:16148713, PMID:16618645, PMID:18358680, PMID:20345079, PMID:23401045, PMID:3585164, PMID:6243385]",y,y +GARD:0019759,Orphanet,100084,ORPHA:100084,11,HP:0000372,Abnormality of the auditory canal,Occasional (29-5%),TAS,,,,"[PMID:15635584, PMID:16148713, PMID:16618645, PMID:18358680, PMID:20345079, PMID:23401045, PMID:3585164, PMID:6243385]",y,y +GARD:0019759,Orphanet,100084,ORPHA:100084,11,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:15635584, PMID:16148713, PMID:16618645, PMID:18358680, PMID:20345079, PMID:23401045, PMID:3585164, PMID:6243385]",y,y +GARD:0019759,Orphanet,100084,ORPHA:100084,11,HP:0002028,Chronic diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:15635584, PMID:16148713, PMID:16618645, PMID:18358680, PMID:20345079, PMID:23401045, PMID:3585164, PMID:6243385]",y,y +GARD:0019759,Orphanet,100084,ORPHA:100084,11,HP:0002315,Headache,Very rare (<4-1%),TAS,,,,"[PMID:15635584, PMID:16148713, PMID:16618645, PMID:18358680, PMID:20345079, PMID:23401045, PMID:3585164, PMID:6243385]",y,y +GARD:0019759,Orphanet,100084,ORPHA:100084,11,HP:0002730,Chronic noninfectious lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:15635584, PMID:16148713, PMID:16618645, PMID:18358680, PMID:20345079, PMID:23401045, PMID:3585164, PMID:6243385]",y,y +GARD:0019759,Orphanet,100084,ORPHA:100084,11,HP:0010628,Facial palsy,Very rare (<4-1%),TAS,,,,"[PMID:15635584, PMID:16148713, PMID:16618645, PMID:18358680, PMID:20345079, PMID:23401045, PMID:3585164, PMID:6243385]",y,y +GARD:0019759,Orphanet,100084,ORPHA:100084,11,HP:0040090,Abnormality of the tympanic membrane,Frequent (79-30%),TAS,,,,"[PMID:15635584, PMID:16148713, PMID:16618645, PMID:18358680, PMID:20345079, PMID:23401045, PMID:3585164, PMID:6243385]",y,y +GARD:0019759,Orphanet,100084,ORPHA:100084,11,HP:0040119,Unilateral conductive hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:15635584, PMID:16148713, PMID:16618645, PMID:18358680, PMID:20345079, PMID:23401045, PMID:3585164, PMID:6243385]",y,y +GARD:0019759,Orphanet,100084,ORPHA:100084,11,HP:0100570,Carcinoid tumor,Obligate (100%),TAS,,,,"[PMID:15635584, PMID:16148713, PMID:16618645, PMID:18358680, PMID:20345079, PMID:23401045, PMID:3585164, PMID:6243385]",y,y +GARD:0019759,Orphanet,100084,ORPHA:100084,11,HP:0100634,Neuroendocrine neoplasm,Obligate (100%),TAS,,,,"[PMID:15635584, PMID:16148713, PMID:16618645, PMID:18358680, PMID:20345079, PMID:23401045, PMID:3585164, PMID:6243385]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0000508,Ptosis,Very rare (<4-1%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0001046,Intermittent jaundice,Very rare (<4-1%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0001407,Hepatic cysts,Occasional (29-5%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0001708,Right ventricular failure,Occasional (29-5%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0002480,Hepatic encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0002730,Chronic noninfectious lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0002896,Neoplasm of the liver,Obligate (100%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0003144,Increased serum serotonin,Occasional (29-5%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0004375,Neoplasm of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0005230,Biliary tract obstruction,Very rare (<4-1%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0006254,Elevated alpha-fetoprotein,Excluded (0%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0006575,Intrahepatic cholestasis with episodic jaundice,Very rare (<4-1%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0007380,Facial telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0007663,Reduced visual acuity,Very rare (<4-1%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0010638,Elevated alkaline phosphatase of hepatic origin,Very rare (<4-1%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0012432,Chronic fatigue,Frequent (79-30%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0012658,Abnormal brain FDG positron emission tomography,Very rare (<4-1%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0025428,Bronchospasm,Occasional (29-5%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0025474,Erythematous plaque,Occasional (29-5%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0030148,Heart murmur,Occasional (29-5%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0030166,Night sweats,Occasional (29-5%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0030948,Elevated gamma-glutamyltransferase level,Very rare (<4-1%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0031029,Elevated carcinoembryonic antigen level,Excluded (0%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0100012,Neoplasm of the eye,Very rare (<4-1%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0100526,Neoplasm of the lung,Very rare (<4-1%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0100570,Carcinoid tumor,Occasional (29-5%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019760,Orphanet,100085,ORPHA:100085,38,HP:0100634,Neuroendocrine neoplasm,Obligate (100%),TAS,,,,"[PMID:19031017, PMID:20133228, PMID:21329891, PMID:24761861, PMID:25051214, PMID:26882787, PMID:8453589]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0001046,Intermittent jaundice,Frequent (79-30%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0001082,Cholecystitis,Frequent (79-30%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0002730,Chronic noninfectious lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0004375,Neoplasm of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0005230,Biliary tract obstruction,Frequent (79-30%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0010638,Elevated alkaline phosphatase of hepatic origin,Frequent (79-30%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0012334,Extrahepatic cholestasis,Frequent (79-30%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0012432,Chronic fatigue,Frequent (79-30%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0012658,Abnormal brain FDG positron emission tomography,Very rare (<4-1%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0030948,Elevated gamma-glutamyltransferase level,Frequent (79-30%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0100574,Biliary tract neoplasm,Obligate (100%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019761,Orphanet,100086,ORPHA:100086,18,HP:0100634,Neuroendocrine neoplasm,Obligate (100%),TAS,,,,"[PMID:20375728, PMID:23826575, PMID:24455579, PMID:24666880, PMID:25043774, PMID:25525590, PMID:25910356, PMID:26000067, PMID:26576584]",y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0000969,Edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0001695,Cardiac arrest,Occasional (29-5%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0002315,Headache,Occasional (29-5%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0002961,Dysgammaglobulinemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0003473,Fatigable weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0006597,Diaphragmatic paralysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0100521,Neoplasm of the thymus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0100634,Neuroendocrine neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0100721,Mediastinal lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0019767,Orphanet,100100,ORPHA:100100,21,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0019769,Orphanet,100974,ORPHA:100974,3,HP:0000118,Phenotypic abnormality,Very rare (<4-1%),TAS,,,,[PMID:18078840],y,y +GARD:0019769,Orphanet,100974,ORPHA:100974,3,HP:0003564,Folate-dependent fragile site at Xq28,Very frequent (99-80%),TAS,,,,[PMID:18078840],y,y +GARD:0019769,Orphanet,100974,ORPHA:100974,3,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,[PMID:18078840],y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0002126,Polymicrogyria,Frequent (79-30%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0002134,Abnormality of the basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0002269,Abnormality of neuronal migration,Very frequent (99-80%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0002538,Abnormal cerebral cortex morphology,Very frequent (99-80%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0002699,Abnormal foramen magnum morphology,Frequent (79-30%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0010843,EEG with focal slow activity,Frequent (79-30%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0011193,EEG with focal spikes,Frequent (79-30%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019775,Orphanet,101029,ORPHA:101029,15,HP:0032391,Subcortical heterotopia,Very frequent (99-80%),TAS,,,,"[PMID:10696010, PMID:25091978, PMID:31490406, PMID:6499568]",y,y +GARD:0019777,Orphanet,101071,ORPHA:101071,14,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:11376999, PMID:16401865]",y,y +GARD:0019777,Orphanet,101071,ORPHA:101071,14,HP:0001269,Hemiparesis,Very frequent (99-80%),TAS,,,,"[PMID:11376999, PMID:16401865]",y,y +GARD:0019777,Orphanet,101071,ORPHA:101071,14,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:11376999, PMID:16401865]",y,y +GARD:0019777,Orphanet,101071,ORPHA:101071,14,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:16401865]",y,y +GARD:0019777,Orphanet,101071,ORPHA:101071,14,HP:0002539,Cortical dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:11376999, PMID:16401865]",y,y +GARD:0019777,Orphanet,101071,ORPHA:101071,14,HP:0006872,Cerebral hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:11376999, PMID:16401865]",y,y +GARD:0019777,Orphanet,101071,ORPHA:101071,14,HP:0006891,Thick cerebral cortex,Very frequent (99-80%),TAS,,,,"[PMID:11376999, PMID:16401865]",y,y +GARD:0019777,Orphanet,101071,ORPHA:101071,14,HP:0006956,Dilation of lateral ventricles,Very frequent (99-80%),TAS,,,,"[PMID:11376999, PMID:16401865]",y,y +GARD:0019777,Orphanet,101071,ORPHA:101071,14,HP:0007359,Focal-onset seizure,Very frequent (99-80%),TAS,,,,"[PMID:11376999, PMID:16401865]",y,y +GARD:0019777,Orphanet,101071,ORPHA:101071,14,HP:0011185,EEG with focal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:11376999, PMID:16401865]",y,y +GARD:0019777,Orphanet,101071,ORPHA:101071,14,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:16401865]",y,y +GARD:0019777,Orphanet,101071,ORPHA:101071,14,HP:0012704,Widened subarachnoid space,Frequent (79-30%),TAS,,,,"[PMID:11376999, PMID:16401865]",y,y +GARD:0019777,Orphanet,101071,ORPHA:101071,14,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:11376999, PMID:16401865]",y,y +GARD:0019777,Orphanet,101071,ORPHA:101071,14,HP:0020220,Focal atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:16401865]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0001896,Reticulocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0002716,Lymphadenopathy,Very rare (<4-1%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0005407,Decreased proportion of CD4-positive helper T cells,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0005528,Bone marrow hypocellularity,Very frequent (99-80%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0005561,Abnormality of bone marrow cell morphology,Frequent (79-30%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0010978,Abnormality of immune system physiology,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0011117,Abnormality of interleukin secretion,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0012133,Erythroid hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0030197,Fatigable weakness of skeletal muscles,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0031393,Abnormal proportion of CD8-positive T cells,Occasional (29-5%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019778,Orphanet,101096,ORPHA:101096,24,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:24424170, PMID:25228559, PMID:25837779, PMID:28452257, PMID:29141943, PMID:31166440, PMID:31315542]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0001331,Absent septum pellucidum,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0002126,Polymicrogyria,Frequent (79-30%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0025102,Dysgenesis of the basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0025517,Hypoplastic hippocampus,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019783,Orphanet,101685,ORPHA:101685,22,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:28377535, PMID:30167849]",y,y +GARD:0019838,Orphanet,103907,ORPHA:103907,10,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:12394383, PMID:8151467]",y,y +GARD:0019838,Orphanet,103907,ORPHA:103907,10,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:12394383, PMID:8151467]",y,y +GARD:0019838,Orphanet,103907,ORPHA:103907,10,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,"[PMID:12394383, PMID:8151467]",y,y +GARD:0019838,Orphanet,103907,ORPHA:103907,10,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:12394383, PMID:8151467]",y,y +GARD:0019838,Orphanet,103907,ORPHA:103907,10,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,"[PMID:12394383, PMID:8151467]",y,y +GARD:0019838,Orphanet,103907,ORPHA:103907,10,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:12394383, PMID:8151467]",y,y +GARD:0019838,Orphanet,103907,ORPHA:103907,10,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:12394383, PMID:8151467]",y,y +GARD:0019838,Orphanet,103907,ORPHA:103907,10,HP:0025129,Abnormal small intestinal mucosa morphology,Frequent (79-30%),TAS,,,,"[PMID:12394383, PMID:8151467]",y,y +GARD:0019838,Orphanet,103907,ORPHA:103907,10,HP:0025130,Decreased small intestinal mucosa lactase level,Frequent (79-30%),TAS,,,,"[PMID:12394383, PMID:8151467]",y,y +GARD:0019838,Orphanet,103907,ORPHA:103907,10,HP:0410281,Dyspepsia,Frequent (79-30%),TAS,,,,"[PMID:12394383, PMID:8151467]",y,y +GARD:0019839,Orphanet,103910,ORPHA:103910,10,HP:0000969,Edema,Frequent (79-30%),TAS,,,,[PMID:8622507],y,y +GARD:0019839,Orphanet,103910,ORPHA:103910,10,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,[PMID:8622507],y,y +GARD:0019839,Orphanet,103910,ORPHA:103910,10,HP:0001944,Dehydration,Frequent (79-30%),TAS,,,,[PMID:8622507],y,y +GARD:0019839,Orphanet,103910,ORPHA:103910,10,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,[PMID:8622507],y,y +GARD:0019839,Orphanet,103910,ORPHA:103910,10,HP:0002243,Protein-losing enteropathy,Very frequent (99-80%),TAS,,,,[PMID:8622507],y,y +GARD:0019839,Orphanet,103910,ORPHA:103910,10,HP:0002573,Hematochezia,Frequent (79-30%),TAS,,,,[PMID:8622507],y,y +GARD:0019839,Orphanet,103910,ORPHA:103910,10,HP:0003073,Hypoalbuminemia,Very frequent (99-80%),TAS,,,,[PMID:8622507],y,y +GARD:0019839,Orphanet,103910,ORPHA:103910,10,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,[PMID:8622507],y,y +GARD:0019839,Orphanet,103910,ORPHA:103910,10,HP:0010876,Abnormal circulating protein concentration,Frequent (79-30%),TAS,,,,[PMID:8622507],y,y +GARD:0019839,Orphanet,103910,ORPHA:103910,10,HP:0011012,Abnormal circulating polysaccharide concentration,Very frequent (99-80%),TAS,,,,[PMID:8622507],y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0000495,Recurrent corneal erosions,Occasional (29-5%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0000559,Corneal scarring,Occasional (29-5%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0000632,Lacrimation abnormality,Occasional (29-5%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0007924,Slow decrease in visual acuity,Frequent (79-30%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0010824,Abnormal fifth cranial nerve morphology,Very frequent (99-80%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0012040,Corneal stromal edema,Occasional (29-5%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0012122,Anterior uveitis,Occasional (29-5%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0012155,Decreased corneal sensation,Very frequent (99-80%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0012533,Allodynia,Very rare (<4-1%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0012804,Corneal ulceration,Occasional (29-5%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0100583,Corneal perforation,Very rare (<4-1%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019878,Orphanet,137596,ORPHA:137596,15,HP:0100963,Hyperesthesia,Very rare (<4-1%),TAS,,,,"[PMID:14631406, PMID:24672223, PMID:28613758, PMID:29698813, PMID:29988739]",y,y +GARD:0019879,Orphanet,137599,ORPHA:137599,11,HP:0000491,Keratitis,Occasional (29-5%),TAS,,,,"[PMID:26989540, PMID:27221681]",y,y +GARD:0019879,Orphanet,137599,ORPHA:137599,11,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:26989540, PMID:27221681]",y,y +GARD:0019879,Orphanet,137599,ORPHA:137599,11,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,"[PMID:26989540, PMID:27221681]",y,y +GARD:0019879,Orphanet,137599,ORPHA:137599,11,HP:0007765,Deep anterior chamber,Very frequent (99-80%),TAS,,,,"[PMID:26989540, PMID:27221681]",y,y +GARD:0019879,Orphanet,137599,ORPHA:137599,11,HP:0007812,Herpetiform corneal ulceration,Frequent (79-30%),TAS,,,,"[PMID:26989540, PMID:27221681]",y,y +GARD:0019879,Orphanet,137599,ORPHA:137599,11,HP:0009926,Epiphora,Frequent (79-30%),TAS,,,,"[PMID:26989540, PMID:27221681]",y,y +GARD:0019879,Orphanet,137599,ORPHA:137599,11,HP:0012039,Descemet Membrane Folds,Frequent (79-30%),TAS,,,,"[PMID:26989540, PMID:27221681]",y,y +GARD:0019879,Orphanet,137599,ORPHA:137599,11,HP:0012040,Corneal stromal edema,Very frequent (99-80%),TAS,,,,"[PMID:26989540, PMID:27221681]",y,y +GARD:0019879,Orphanet,137599,ORPHA:137599,11,HP:0012108,Open angle glaucoma,Very frequent (99-80%),TAS,,,,"[PMID:26989540, PMID:27221681]",y,y +GARD:0019879,Orphanet,137599,ORPHA:137599,11,HP:0012155,Decreased corneal sensation,Frequent (79-30%),TAS,,,,"[PMID:26989540, PMID:27221681]",y,y +GARD:0019879,Orphanet,137599,ORPHA:137599,11,HP:0100583,Corneal perforation,Frequent (79-30%),TAS,,,,"[PMID:26989540, PMID:27221681]",y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0005293,Venous insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0007392,Excessive wrinkled skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0010566,Hamartoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0100013,Neoplasm of the breast,Occasional (29-5%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0100026,Arteriovenous malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0100031,Neoplasm of the thyroid gland,Occasional (29-5%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0100559,Lower limb asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0100560,Upper limb asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0100615,Ovarian neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0100761,Visceral angiomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0100764,Lymphangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019881,Orphanet,137608,ORPHA:137608,19,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0001283,Bulbar palsy,Very frequent (99-80%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0001621,Weak voice,Frequent (79-30%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0006801,Hyperactive deep tendon reflexes,Frequent (79-30%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0007289,Limb fasciculations,Frequent (79-30%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0007663,Reduced visual acuity,Very rare (<4-1%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0010628,Facial palsy,Very rare (<4-1%),TAS,,,,[PMID:18261745],y,y +GARD:0019887,Orphanet,137867,ORPHA:137867,17,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,[PMID:18261745],y,y +GARD:0019893,Orphanet,137935,ORPHA:137935,13,HP:0000329,Facial hemangioma,Occasional (29-5%),TAS,,,,"[PMID:21880377, PMID:29706817]",y,y +GARD:0019893,Orphanet,137935,ORPHA:137935,13,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:21880377, PMID:29706817]",y,y +GARD:0019893,Orphanet,137935,ORPHA:137935,13,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:21880377, PMID:29706817]",y,y +GARD:0019893,Orphanet,137935,ORPHA:137935,13,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:21880377, PMID:29706817]",y,y +GARD:0019893,Orphanet,137935,ORPHA:137935,13,HP:0002013,Vomiting,Very rare (<4-1%),TAS,,,,"[PMID:21880377, PMID:29706817]",y,y +GARD:0019893,Orphanet,137935,ORPHA:137935,13,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:21880377, PMID:29706817]",y,y +GARD:0019893,Orphanet,137935,ORPHA:137935,13,HP:0002104,Apnea,Very rare (<4-1%),TAS,,,,"[PMID:21880377, PMID:29706817]",y,y +GARD:0019893,Orphanet,137935,ORPHA:137935,13,HP:0002360,Sleep disturbance,Very rare (<4-1%),TAS,,,,"[PMID:21880377, PMID:29706817]",y,y +GARD:0019893,Orphanet,137935,ORPHA:137935,13,HP:0010307,Stridor,Very frequent (99-80%),TAS,,,,"[PMID:21880377, PMID:29706817]",y,y +GARD:0019893,Orphanet,137935,ORPHA:137935,13,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:21880377, PMID:29706817]",y,y +GARD:0019893,Orphanet,137935,ORPHA:137935,13,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:21880377, PMID:29706817]",y,y +GARD:0019893,Orphanet,137935,ORPHA:137935,13,HP:0030828,Wheezing,Occasional (29-5%),TAS,,,,"[PMID:21880377, PMID:29706817]",y,y +GARD:0019893,Orphanet,137935,ORPHA:137935,13,HP:0030864,Intercostal retractions,Frequent (79-30%),TAS,,,,"[PMID:21880377, PMID:29706817]",y,y +GARD:0019912,Orphanet,139414,ORPHA:139414,6,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:15660657, PMID:26822169]",y,y +GARD:0019912,Orphanet,139414,ORPHA:139414,6,HP:0000989,Pruritus,Excluded (0%),TAS,,,,"[PMID:15660657, PMID:26822169]",y,y +GARD:0019912,Orphanet,139414,ORPHA:139414,6,HP:0010566,Hamartoma,Obligate (100%),TAS,,,,"[PMID:15660657, PMID:26822169]",y,y +GARD:0019912,Orphanet,139414,ORPHA:139414,6,HP:0012500,Verrucous papule,Very frequent (99-80%),TAS,,,,"[PMID:15660657, PMID:26822169]",y,y +GARD:0019912,Orphanet,139414,ORPHA:139414,6,HP:0012531,Pain,Excluded (0%),TAS,,,,"[PMID:15660657, PMID:26822169]",y,y +GARD:0019912,Orphanet,139414,ORPHA:139414,6,HP:0200036,Skin nodule,Very frequent (99-80%),TAS,,,,"[PMID:15660657, PMID:26822169]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0000016,Urinary retention,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0001278,Orthostatic hypotension,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0002138,Subarachnoid hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0002385,Paraparesis,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0002493,Upper motor neuron dysfunction,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0002495,Impaired vibratory sensation,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0002590,Paralytic ileus,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0002839,Urinary bladder sphincter dysfunction,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0003484,Upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0004370,Abnormality of temperature regulation,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0005341,Autonomic bladder dysfunction,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0007305,CNS demyelination,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0010547,Muscle flaccidity,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0010550,Paraplegia,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0010831,Impaired proprioception,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0010835,Dissociated sensory loss,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0011967,Decreased circulating copper concentration,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0011972,Hypoglycorrhachia,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0012229,CSF pleocytosis,Frequent (79-30%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0012534,Dysesthesia,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0025615,Abscess,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0031179,Nuchal rigidity,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0031691,Severe viral infection,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0031700,Invasive parasitic infection,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0031845,Abnormal libido,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0032271,Extrapulmonary tuberculosis,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0032283,Disseminated nontuberculous mycobacterial infection,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0100502,Vitamin B12 deficiency,Occasional (29-5%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019913,Orphanet,139417,ORPHA:139417,51,HP:0200023,Priapism,Very rare (<4-1%),TAS,,,,"[PMID:23186897, PMID:24099672, PMID:29375121]",y,y +GARD:0019915,Orphanet,139426,ORPHA:139426,10,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:15820362, PMID:21570919, PMID:9253489]",y,y +GARD:0019915,Orphanet,139426,ORPHA:139426,10,HP:0002069,Bilateral tonic-clonic seizure,Obligate (100%),TAS,,,,"[PMID:15820362, PMID:21570919, PMID:9253489]",y,y +GARD:0019915,Orphanet,139426,ORPHA:139426,10,HP:0002121,Generalized non-motor (absence) seizure,Frequent (79-30%),TAS,,,,"[PMID:15820362, PMID:21570919, PMID:9253489]",y,y +GARD:0019915,Orphanet,139426,ORPHA:139426,10,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:15820362, PMID:21570919, PMID:9253489]",y,y +GARD:0019915,Orphanet,139426,ORPHA:139426,10,HP:0002371,Loss of speech,Very frequent (99-80%),TAS,,,,"[PMID:15820362, PMID:21570919, PMID:9253489]",y,y +GARD:0019915,Orphanet,139426,ORPHA:139426,10,HP:0002527,Falls,Occasional (29-5%),TAS,,,,"[PMID:15820362, PMID:21570919, PMID:9253489]",y,y +GARD:0019915,Orphanet,139426,ORPHA:139426,10,HP:0004372,Reduced consciousness/confusion,Very frequent (99-80%),TAS,,,,"[PMID:15820362, PMID:21570919, PMID:9253489]",y,y +GARD:0019915,Orphanet,139426,ORPHA:139426,10,HP:0010850,EEG with spike-wave complexes,Obligate (100%),TAS,,,,"[PMID:15820362, PMID:21570919, PMID:9253489]",y,y +GARD:0019915,Orphanet,139426,ORPHA:139426,10,HP:0011168,Focal seizure with eyelid myoclonia,Very frequent (99-80%),TAS,,,,"[PMID:15820362, PMID:21570919, PMID:9253489]",y,y +GARD:0019915,Orphanet,139426,ORPHA:139426,10,HP:0012462,Chin myoclonus,Very frequent (99-80%),TAS,,,,"[PMID:15820362, PMID:21570919, PMID:9253489]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0002121,Generalized non-motor (absence) seizure,Very frequent (99-80%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0002457,Abnormal head movements,Occasional (29-5%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0007704,Paroxysmal involuntary eye movements,Occasional (29-5%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0010818,Generalized tonic seizure,Very rare (<4-1%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0010850,EEG with spike-wave complexes,Occasional (29-5%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0010852,EEG with photoparoxysmal response,Frequent (79-30%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0010858,EEG with hyperventilation-induced epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0011168,Focal seizure with eyelid myoclonia,Very frequent (99-80%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0011182,Interictal epileptiform activity,Occasional (29-5%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0011185,EEG with focal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0011193,EEG with focal spikes,Frequent (79-30%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0012001,EEG with generalized polyspikes,Occasional (29-5%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0020216,Visually-induced seizure,Frequent (79-30%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0025190,Bilateral tonic-clonic seizure with generalized onset,Frequent (79-30%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0031491,Continuous spike and waves during slow sleep,Very rare (<4-1%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0045084,Limb myoclonus,Frequent (79-30%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019916,Orphanet,139431,ORPHA:139431,23,HP:0100785,Insomnia,Frequent (79-30%),TAS,,,,"[PMID:30082241, PMID:32369428, PMID:32554361]",y,y +GARD:0019917,Orphanet,139444,ORPHA:139444,14,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:15626547],y,y +GARD:0019917,Orphanet,139444,ORPHA:139444,14,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:15626547],y,y +GARD:0019917,Orphanet,139444,ORPHA:139444,14,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:15626547],y,y +GARD:0019917,Orphanet,139444,ORPHA:139444,14,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:15626547],y,y +GARD:0019917,Orphanet,139444,ORPHA:139444,14,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:15626547],y,y +GARD:0019917,Orphanet,139444,ORPHA:139444,14,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,[PMID:15626547],y,y +GARD:0019917,Orphanet,139444,ORPHA:139444,14,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:15626547],y,y +GARD:0019917,Orphanet,139444,ORPHA:139444,14,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,[PMID:15626547],y,y +GARD:0019917,Orphanet,139444,ORPHA:139444,14,HP:0002169,Clonus,Frequent (79-30%),TAS,,,,[PMID:15626547],y,y +GARD:0019917,Orphanet,139444,ORPHA:139444,14,HP:0002352,Leukoencephalopathy,Very frequent (99-80%),TAS,,,,[PMID:15626547],y,y +GARD:0019917,Orphanet,139444,ORPHA:139444,14,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:15626547],y,y +GARD:0019917,Orphanet,139444,ORPHA:139444,14,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,[PMID:15626547],y,y +GARD:0019917,Orphanet,139444,ORPHA:139444,14,HP:0009062,Infantile axial hypotonia,Frequent (79-30%),TAS,,,,[PMID:15626547],y,y +GARD:0019917,Orphanet,139444,ORPHA:139444,14,HP:0010576,Intracranial cystic lesion,Very frequent (99-80%),TAS,,,,[PMID:15626547],y,y +GARD:0019922,Orphanet,140286,ORPHA:140286,3,HP:0000828,Abnormality of the parathyroid gland,Very frequent (99-80%),TAS,,,,,y,y +GARD:0019922,Orphanet,140286,ORPHA:140286,3,HP:0000867,Secondary hyperparathyroidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0019922,Orphanet,140286,ORPHA:140286,3,HP:0004363,Abnormal circulating calcium concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0019932,Orphanet,140933,ORPHA:140933,5,HP:0000989,Pruritus,Excluded (0%),TAS,,,,"[PMID:23989408, PMID:27051814]",y,y +GARD:0019932,Orphanet,140933,ORPHA:140933,5,HP:0007546,Linear hyperpigmentation,Obligate (100%),TAS,,,,"[PMID:23989408, PMID:27051814]",y,y +GARD:0019932,Orphanet,140933,ORPHA:140933,5,HP:0011123,Inflammatory abnormality of the skin,Excluded (0%),TAS,,,,"[PMID:23989408, PMID:27051814]",y,y +GARD:0019932,Orphanet,140933,ORPHA:140933,5,HP:0030053,Stiff skin,Excluded (0%),TAS,,,,"[PMID:23989408, PMID:27051814]",y,y +GARD:0019932,Orphanet,140933,ORPHA:140933,5,HP:0100324,Scleroderma,Excluded (0%),TAS,,,,"[PMID:23989408, PMID:27051814]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0000579,Nasolacrimal duct obstruction,Frequent (79-30%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0000620,Dacryocystitis,Frequent (79-30%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0001742,Nasal congestion,Frequent (79-30%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0004411,Deviated nasal septum,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0004885,Episodic respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0007651,Ectropion of lower eyelids,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0007717,Chronic irritative conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0009926,Epiphora,Frequent (79-30%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0010307,Stridor,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0012763,Paroxysmal dyspnea,Frequent (79-30%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0025337,Red eye,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0025612,Corneal astigmatism,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0030215,Inappropriate crying,Frequent (79-30%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0030752,Dacryocystocele,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0030829,Abnormal breath sound,Frequent (79-30%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0030864,Intercostal retractions,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0045025,Narrow palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0100539,Periorbital edema,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:0200026,Ocular pain,Occasional (29-5%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019944,Orphanet,141083,ORPHA:141083,25,HP:3000066,Abnormal lacrimal sac morphology,Frequent (79-30%),TAS,,,,"[PMID:22852130, PMID:25825046, PMID:26724215, PMID:32714680]",y,y +GARD:0019945,Orphanet,141091,ORPHA:141091,9,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,"[PMID:29184738, PMID:9725533]",y,y +GARD:0019945,Orphanet,141091,ORPHA:141091,9,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:29184738, PMID:9725533]",y,y +GARD:0019945,Orphanet,141091,ORPHA:141091,9,HP:0002056,Abnormality of the glabella,Occasional (29-5%),TAS,,,,"[PMID:29184738, PMID:9725533]",y,y +GARD:0019945,Orphanet,141091,ORPHA:141091,9,HP:0002693,Abnormality of the skull base,Occasional (29-5%),TAS,,,,"[PMID:29184738, PMID:9725533]",y,y +GARD:0019945,Orphanet,141091,ORPHA:141091,9,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:29184738, PMID:9725533]",y,y +GARD:0019945,Orphanet,141091,ORPHA:141091,9,HP:0009934,Supernumerary naris,Frequent (79-30%),TAS,,,,"[PMID:29184738, PMID:9725533]",y,y +GARD:0019945,Orphanet,141091,ORPHA:141091,9,HP:0010938,Abnormality of the external nose,Frequent (79-30%),TAS,,,,"[PMID:29184738, PMID:9725533]",y,y +GARD:0019945,Orphanet,141091,ORPHA:141091,9,HP:0010939,Abnormal nasal bone morphology,Frequent (79-30%),TAS,,,,"[PMID:29184738, PMID:9725533]",y,y +GARD:0019945,Orphanet,141091,ORPHA:141091,9,HP:0010951,Abnormal third ventricle morphology,Occasional (29-5%),TAS,,,,"[PMID:29184738, PMID:9725533]",y,y +GARD:0019946,Orphanet,141096,ORPHA:141096,7,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,"[PMID:15195526, PMID:16381135, PMID:22185625, PMID:22687717, PMID:23483576, PMID:25095909, PMID:5074938]",y,y +GARD:0019946,Orphanet,141096,ORPHA:141096,7,HP:0000453,Choanal atresia,Very rare (<4-1%),TAS,,,,"[PMID:15195526, PMID:16381135, PMID:22185625, PMID:22687717, PMID:23483576, PMID:25095909, PMID:5074938]",y,y +GARD:0019946,Orphanet,141096,ORPHA:141096,7,HP:0000482,Microcornea,Very rare (<4-1%),TAS,,,,"[PMID:15195526, PMID:16381135, PMID:22185625, PMID:22687717, PMID:23483576, PMID:25095909, PMID:5074938]",y,y +GARD:0019946,Orphanet,141096,ORPHA:141096,7,HP:0000519,Developmental cataract,Very rare (<4-1%),TAS,,,,"[PMID:15195526, PMID:16381135, PMID:22185625, PMID:22687717, PMID:23483576, PMID:25095909, PMID:5074938]",y,y +GARD:0019946,Orphanet,141096,ORPHA:141096,7,HP:0002006,Facial cleft,Occasional (29-5%),TAS,,,,"[PMID:15195526, PMID:16381135, PMID:22185625, PMID:22687717, PMID:23483576, PMID:25095909, PMID:5074938]",y,y +GARD:0019946,Orphanet,141096,ORPHA:141096,7,HP:0009934,Supernumerary naris,Obligate (100%),TAS,,,,"[PMID:15195526, PMID:16381135, PMID:22185625, PMID:22687717, PMID:23483576, PMID:25095909, PMID:5074938]",y,y +GARD:0019946,Orphanet,141096,ORPHA:141096,7,HP:3000040,Abnormality of ethmoid sinus,Very rare (<4-1%),TAS,,,,"[PMID:15195526, PMID:16381135, PMID:22185625, PMID:22687717, PMID:23483576, PMID:25095909, PMID:5074938]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000122,Unilateral renal agenesis,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000245,Abnormal paranasal sinus morphology,Very frequent (99-80%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000286,Epicanthus,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000453,Choanal atresia,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000482,Microcornea,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000508,Ptosis,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000520,Proptosis,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000528,Anophthalmia,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000534,Abnormal eyebrow morphology,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000568,Microphthalmia,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000579,Nasolacrimal duct obstruction,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000588,Optic disc coloboma,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000614,Abnormal nasolacrimal system morphology,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0000625,Eyelid coloboma,Frequent (79-30%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0001144,Orbital cyst,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0002011,Morphological central nervous system abnormality,Frequent (79-30%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0003241,External genital hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0005580,Duplication of renal pelvis,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0007946,Unilateral narrow palpebral fissure,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0009117,Aplasia/Hypoplasia of the maxilla,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0009914,Cyclopia,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0009932,Single naris,Frequent (79-30%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0011821,Abnormal facial skeleton morphology,Frequent (79-30%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0012300,Ureteral agenesis,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0012372,Abnormal eye morphology,Frequent (79-30%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0012738,Agenesis of canine,Very rare (<4-1%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0012806,Proboscis,Very frequent (99-80%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0032039,Abnormality of the ocular adnexa,Frequent (79-30%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0040296,Abnormal location of the eyebrow,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0430005,Abnormal ethmoid bone morphology,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:0430023,Abnormality of the maxillary sinus,Frequent (79-30%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019947,Orphanet,141099,ORPHA:141099,49,HP:3000030,Abnormal morphology of bony orbit of skull,Occasional (29-5%),TAS,,,,"[PMID:31420283, PMID:34395913]",y,y +GARD:0019958,Orphanet,141184,ORPHA:141184,14,HP:0001015,Prominent superficial veins,Occasional (29-5%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637, PMID:7911127]",y,y +GARD:0019958,Orphanet,141184,ORPHA:141184,14,HP:0001028,Hemangioma,Obligate (100%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637, PMID:7911127]",y,y +GARD:0019958,Orphanet,141184,ORPHA:141184,14,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637, PMID:7911127]",y,y +GARD:0019958,Orphanet,141184,ORPHA:141184,14,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637, PMID:7911127]",y,y +GARD:0019958,Orphanet,141184,ORPHA:141184,14,HP:0007466,Midfrontal capillary hemangioma,Frequent (79-30%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637, PMID:7911127]",y,y +GARD:0019958,Orphanet,141184,ORPHA:141184,14,HP:0007618,Subcutaneous calcification,Frequent (79-30%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637, PMID:7911127]",y,y +GARD:0019958,Orphanet,141184,ORPHA:141184,14,HP:0010885,Avascular necrosis,Very rare (<4-1%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637, PMID:7911127]",y,y +GARD:0019958,Orphanet,141184,ORPHA:141184,14,HP:0012329,Tufted angioma,Excluded (0%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637, PMID:7911127]",y,y +GARD:0019958,Orphanet,141184,ORPHA:141184,14,HP:0031207,Hepatic hemangioma,Very rare (<4-1%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637, PMID:7911127]",y,y +GARD:0019958,Orphanet,141184,ORPHA:141184,14,HP:0031449,Perineal hemangioma,Frequent (79-30%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637, PMID:7911127]",y,y +GARD:0019958,Orphanet,141184,ORPHA:141184,14,HP:0100578,Lipoatrophy,Very rare (<4-1%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637, PMID:7911127]",y,y +GARD:0019958,Orphanet,141184,ORPHA:141184,14,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637, PMID:7911127]",y,y +GARD:0019958,Orphanet,141184,ORPHA:141184,14,HP:0100784,Peripheral arteriovenous fistula,Occasional (29-5%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637, PMID:7911127]",y,y +GARD:0019958,Orphanet,141184,ORPHA:141184,14,HP:0410266,Visceral hemangioma,Occasional (29-5%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637, PMID:7911127]",y,y +GARD:0020018,Orphanet,157991,ORPHA:157991,12,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:14060074, PMID:14699379, PMID:14746649, PMID:17989894, PMID:25923837]",y,y +GARD:0020018,Orphanet,157991,ORPHA:157991,12,HP:0001909,Leukemia,Very rare (<4-1%),TAS,,,,"[PMID:14060074, PMID:14699379, PMID:14746649, PMID:17989894, PMID:25923837]",y,y +GARD:0020018,Orphanet,157991,ORPHA:157991,12,HP:0002716,Lymphadenopathy,Excluded (0%),TAS,,,,"[PMID:14060074, PMID:14699379, PMID:14746649, PMID:17989894, PMID:25923837]",y,y +GARD:0020018,Orphanet,157991,ORPHA:157991,12,HP:0005585,Spotty hyperpigmentation,Very rare (<4-1%),TAS,,,,"[PMID:14060074, PMID:14699379, PMID:14746649, PMID:17989894, PMID:25923837]",y,y +GARD:0020018,Orphanet,157991,ORPHA:157991,12,HP:0025475,Erythematous macule,Very frequent (99-80%),TAS,,,,"[PMID:14060074, PMID:14699379, PMID:14746649, PMID:17989894, PMID:25923837]",y,y +GARD:0020018,Orphanet,157991,ORPHA:157991,12,HP:0030350,Erythematous papule,Very frequent (99-80%),TAS,,,,"[PMID:14060074, PMID:14699379, PMID:14746649, PMID:17989894, PMID:25923837]",y,y +GARD:0020018,Orphanet,157991,ORPHA:157991,12,HP:0031871,Abnormal Langerhans cell morphology,Excluded (0%),TAS,,,,"[PMID:14060074, PMID:14699379, PMID:14746649, PMID:17989894, PMID:25923837]",y,y +GARD:0020018,Orphanet,157991,ORPHA:157991,12,HP:0031901,Elevated total serum tryptase,Occasional (29-5%),TAS,,,,"[PMID:14060074, PMID:14699379, PMID:14746649, PMID:17989894, PMID:25923837]",y,y +GARD:0020018,Orphanet,157991,ORPHA:157991,12,HP:0032061,Hypereosinophilia,Occasional (29-5%),TAS,,,,"[PMID:14060074, PMID:14699379, PMID:14746649, PMID:17989894, PMID:25923837]",y,y +GARD:0020018,Orphanet,157991,ORPHA:157991,12,HP:0040126,Abnormal vitamin B12 level,Occasional (29-5%),TAS,,,,"[PMID:14060074, PMID:14699379, PMID:14746649, PMID:17989894, PMID:25923837]",y,y +GARD:0020018,Orphanet,157991,ORPHA:157991,12,HP:0040186,Maculopapular exanthema,Frequent (79-30%),TAS,,,,"[PMID:14060074, PMID:14699379, PMID:14746649, PMID:17989894, PMID:25923837]",y,y +GARD:0020018,Orphanet,157991,ORPHA:157991,12,HP:0100727,Histiocytosis,Very frequent (99-80%),TAS,,,,"[PMID:14060074, PMID:14699379, PMID:14746649, PMID:17989894, PMID:25923837]",y,y +GARD:0020019,Orphanet,157997,ORPHA:157997,4,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,"[PMID:3740882, PMID:6721528, PMID:7741553]",y,y +GARD:0020019,Orphanet,157997,ORPHA:157997,4,HP:0011123,Inflammatory abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:3740882, PMID:6721528, PMID:7741553]",y,y +GARD:0020019,Orphanet,157997,ORPHA:157997,4,HP:0100727,Histiocytosis,Very frequent (99-80%),TAS,,,,"[PMID:3740882, PMID:6721528, PMID:7741553]",y,y +GARD:0020019,Orphanet,157997,ORPHA:157997,4,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,"[PMID:3740882, PMID:6721528, PMID:7741553]",y,y +GARD:0020020,Orphanet,158000,ORPHA:158000,12,HP:0000498,Blepharitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020020,Orphanet,158000,ORPHA:158000,12,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0020020,Orphanet,158000,ORPHA:158000,12,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020020,Orphanet,158000,ORPHA:158000,12,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020020,Orphanet,158000,ORPHA:158000,12,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0020020,Orphanet,158000,ORPHA:158000,12,HP:0001101,Iritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020020,Orphanet,158000,ORPHA:158000,12,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,,y,y +GARD:0020020,Orphanet,158000,ORPHA:158000,12,HP:0005547,Myeloproliferative disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0020020,Orphanet,158000,ORPHA:158000,12,HP:0007565,Multiple cafe-au-lait spots,Occasional (29-5%),TAS,,,,,y,y +GARD:0020020,Orphanet,158000,ORPHA:158000,12,HP:0011830,Abnormal oral mucosa morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0020020,Orphanet,158000,ORPHA:158000,12,HP:0011886,Hyphema,Occasional (29-5%),TAS,,,,,y,y +GARD:0020020,Orphanet,158000,ORPHA:158000,12,HP:0200064,Asymmetry of iris pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0020021,Orphanet,158008,ORPHA:158008,4,HP:0001013,Eruptive xanthomas,Very frequent (99-80%),TAS,,,,"[PMID:15628330, PMID:16638433, PMID:23518438, PMID:25258297, PMID:3888123]",y,y +GARD:0020021,Orphanet,158008,ORPHA:158008,4,HP:0003077,Hyperlipidemia,Excluded (0%),TAS,,,,"[PMID:15628330, PMID:16638433, PMID:23518438, PMID:25258297, PMID:3888123]",y,y +GARD:0020021,Orphanet,158008,ORPHA:158008,4,HP:0100727,Histiocytosis,Very frequent (99-80%),TAS,,,,"[PMID:15628330, PMID:16638433, PMID:23518438, PMID:25258297, PMID:3888123]",y,y +GARD:0020021,Orphanet,158008,ORPHA:158008,4,HP:0200035,Skin plaque,Very frequent (99-80%),TAS,,,,"[PMID:15628330, PMID:16638433, PMID:23518438, PMID:25258297, PMID:3888123]",y,y +GARD:0020023,Orphanet,158022,ORPHA:158022,4,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020023,Orphanet,158022,ORPHA:158022,4,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0020023,Orphanet,158022,ORPHA:158022,4,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020023,Orphanet,158022,ORPHA:158022,4,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0001402,Hepatocellular carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0001876,Pancytopenia,Very frequent (99-80%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0002667,Nephroblastoma,Very rare (<4-1%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0002860,Squamous cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0002904,Hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0002922,Increased CSF protein,Occasional (29-5%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0002958,Immune dysregulation,Very frequent (99-80%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0003003,Colon cancer,Very rare (<4-1%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0003281,Increased circulating ferritin concentration,Very frequent (99-80%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0004377,Hematological neoplasm,Frequent (79-30%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0004808,Acute myeloid leukemia,Occasional (29-5%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0005521,Disseminated intravascular coagulation,Occasional (29-5%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0006721,Acute lymphoblastic leukemia,Occasional (29-5%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0006775,Multiple myeloma,Occasional (29-5%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0011227,Elevated circulating C-reactive protein concentration,Very frequent (99-80%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0011900,Hypofibrinogenemia,Frequent (79-30%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0012125,Prostate cancer,Very rare (<4-1%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0012156,Hemophagocytosis,Obligate (100%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0012189,Hodgkin lymphoma,Occasional (29-5%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0012190,T-cell lymphoma,Occasional (29-5%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0012191,B-cell lymphoma,Occasional (29-5%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0012211,Abnormal renal physiology,Very frequent (99-80%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0012229,CSF pleocytosis,Occasional (29-5%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0020072,Persistent EBV viremia,Occasional (29-5%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0030080,Burkitt lymphoma,Occasional (29-5%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0030782,Abnormal circulating interleukin concentration,Very frequent (99-80%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0040218,Reduced natural killer cell count,Very frequent (99-80%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020027,Orphanet,158057,ORPHA:158057,39,HP:0100526,Neoplasm of the lung,Very rare (<4-1%),TAS,,,,"[PMID:26637718, PMID:28648938, PMID:28938698, PMID:32195069]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0000972,Palmoplantar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0001009,Telangiectasia,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0001029,Poikiloderma,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0001030,Fragile skin,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0001056,Milia,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0001810,Dystrophic toenail,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0002043,Esophageal stricture,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0002814,Abnormality of the lower limb,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0002815,Abnormality of the knee,Occasional (29-5%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0004334,Dermal atrophy,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0007473,Crusting erythematous dermatitis,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0008390,Recurrent loss of toenails and fingernails,Occasional (29-5%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0008391,Dystrophic fingernails,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0009811,Abnormality of the elbow,Occasional (29-5%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0025474,Erythematous plaque,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020031,Orphanet,158673,ORPHA:158673,20,HP:0031045,Acral blistering,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481, PMID:29179948]",y,y +GARD:0020032,Orphanet,158676,ORPHA:158676,11,HP:0001030,Fragile skin,Excluded (0%),TAS,,,,"[PMID:11260188, PMID:20301481]",y,y +GARD:0020032,Orphanet,158676,ORPHA:158676,11,HP:0001802,Absent toenail,Occasional (29-5%),TAS,,,,"[PMID:11260188, PMID:20301481]",y,y +GARD:0020032,Orphanet,158676,ORPHA:158676,11,HP:0001805,Onychogryposis,Very frequent (99-80%),TAS,,,,"[PMID:11260188, PMID:20301481]",y,y +GARD:0020032,Orphanet,158676,ORPHA:158676,11,HP:0001808,Fragile nails,Very frequent (99-80%),TAS,,,,"[PMID:11260188, PMID:20301481]",y,y +GARD:0020032,Orphanet,158676,ORPHA:158676,11,HP:0001810,Dystrophic toenail,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481]",y,y +GARD:0020032,Orphanet,158676,ORPHA:158676,11,HP:0008066,Abnormal blistering of the skin,Excluded (0%),TAS,,,,"[PMID:11260188, PMID:20301481]",y,y +GARD:0020032,Orphanet,158676,ORPHA:158676,11,HP:0008391,Dystrophic fingernails,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481]",y,y +GARD:0020032,Orphanet,158676,ORPHA:158676,11,HP:0008401,Onychogryposis of toenails,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481]",y,y +GARD:0020032,Orphanet,158676,ORPHA:158676,11,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:11260188, PMID:20301481]",y,y +GARD:0020032,Orphanet,158676,ORPHA:158676,11,HP:0011121,Abnormality of skin morphology,Excluded (0%),TAS,,,,"[PMID:11260188, PMID:20301481]",y,y +GARD:0020032,Orphanet,158676,ORPHA:158676,11,HP:0040036,Onychogryposis of fingernail,Frequent (79-30%),TAS,,,,"[PMID:11260188, PMID:20301481]",y,y +GARD:0020038,Orphanet,160148,ORPHA:160148,8,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:22333383, PMID:23416507]",y,y +GARD:0020038,Orphanet,160148,ORPHA:160148,8,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:22333383, PMID:23416507]",y,y +GARD:0020038,Orphanet,160148,ORPHA:160148,8,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,"[PMID:22333383, PMID:23416507]",y,y +GARD:0020038,Orphanet,160148,ORPHA:160148,8,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:22333383, PMID:23416507]",y,y +GARD:0020038,Orphanet,160148,ORPHA:160148,8,HP:0002573,Hematochezia,Very frequent (99-80%),TAS,,,,"[PMID:22333383, PMID:23416507]",y,y +GARD:0020038,Orphanet,160148,ORPHA:160148,8,HP:0002582,Atrophic gastritis,Very frequent (99-80%),TAS,,,,"[PMID:22333383, PMID:23416507]",y,y +GARD:0020038,Orphanet,160148,ORPHA:160148,8,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:22333383, PMID:23416507]",y,y +GARD:0020038,Orphanet,160148,ORPHA:160148,8,HP:0200063,Colorectal polyposis,Obligate (100%),TAS,,,,"[PMID:22333383, PMID:23416507]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0011185,EEG with focal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0011203,EEG with abnormally slow frequencies,Occasional (29-5%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0012756,CSF polymorphonuclear pleocytosis,Frequent (79-30%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0020071,Viremia,Frequent (79-30%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0025100,Abnormal hippocampus morphology,Occasional (29-5%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0031885,Hyperglycorrhachia,Frequent (79-30%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0100806,Sepsis,Frequent (79-30%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020051,Orphanet,163921,ORPHA:163921,23,HP:0200149,CSF lymphocytic pleiocytosis,Frequent (79-30%),TAS,,,,"[PMID:30256500, PMID:33396564, PMID:33548682]",y,y +GARD:0020053,Orphanet,163934,ORPHA:163934,9,HP:0000491,Keratitis,Very frequent (99-80%),TAS,,,,[PMID:26278858],y,y +GARD:0020053,Orphanet,163934,ORPHA:163934,9,HP:0000492,Abnormal eyelid morphology,Frequent (79-30%),TAS,,,,[PMID:26278858],y,y +GARD:0020053,Orphanet,163934,ORPHA:163934,9,HP:0000498,Blepharitis,Frequent (79-30%),TAS,,,,[PMID:26278858],y,y +GARD:0020053,Orphanet,163934,ORPHA:163934,9,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,[PMID:26278858],y,y +GARD:0020053,Orphanet,163934,ORPHA:163934,9,HP:0001097,Keratoconjunctivitis sicca,Very frequent (99-80%),TAS,,,,[PMID:26278858],y,y +GARD:0020053,Orphanet,163934,ORPHA:163934,9,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,[PMID:26278858],y,y +GARD:0020053,Orphanet,163934,ORPHA:163934,9,HP:0011457,Loss of eyelashes,Frequent (79-30%),TAS,,,,[PMID:26278858],y,y +GARD:0020053,Orphanet,163934,ORPHA:163934,9,HP:0011496,Corneal neovascularization,Frequent (79-30%),TAS,,,,[PMID:26278858],y,y +GARD:0020053,Orphanet,163934,ORPHA:163934,9,HP:0012375,Chemosis,Occasional (29-5%),TAS,,,,[PMID:26278858],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0000026,Male hypogonadism,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0000336,Prominent supraorbital ridges,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0001792,Small nail,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0004440,Coronal craniosynostosis,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0008187,Absence of secondary sex characteristics,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0011999,Paranoia,Occasional (29-5%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0100962,Shyness,Occasional (29-5%),TAS,,,,[PMID:17369115],y,y +GARD:0020054,Orphanet,163971,ORPHA:163971,25,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,[PMID:17369115],y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0000989,Pruritus,Very rare (<4-1%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0001036,Parakeratosis,Very frequent (99-80%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0002664,Neoplasm,Very frequent (99-80%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0011367,Yellow nails,Very frequent (99-80%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0012034,Liposarcoma,Frequent (79-30%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0030078,Lung adenocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0040189,Scaling skin,Very frequent (99-80%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020069,Orphanet,166113,ORPHA:166113,15,HP:0100816,Lip hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:24346922, PMID:26765420, PMID:27721759]",y,y +GARD:0020098,Orphanet,168621,ORPHA:168621,13,HP:0001374,Congenital hip dislocation,Very rare (<4-1%),TAS,,,,"[PMID:10482209, PMID:21138215]",y,y +GARD:0020098,Orphanet,168621,ORPHA:168621,13,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,"[PMID:10482209, PMID:21138215]",y,y +GARD:0020098,Orphanet,168621,ORPHA:168621,13,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:10482209, PMID:21138215]",y,y +GARD:0020098,Orphanet,168621,ORPHA:168621,13,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:10482209, PMID:21138215]",y,y +GARD:0020098,Orphanet,168621,ORPHA:168621,13,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:10482209, PMID:21138215]",y,y +GARD:0020098,Orphanet,168621,ORPHA:168621,13,HP:0003565,Elevated erythrocyte sedimentation rate,Occasional (29-5%),TAS,,,,"[PMID:10482209, PMID:21138215]",y,y +GARD:0020098,Orphanet,168621,ORPHA:168621,13,HP:0008800,Limited hip movement,Occasional (29-5%),TAS,,,,"[PMID:10482209, PMID:21138215]",y,y +GARD:0020098,Orphanet,168621,ORPHA:168621,13,HP:0008812,Flattened femoral head,Very rare (<4-1%),TAS,,,,"[PMID:10482209, PMID:21138215]",y,y +GARD:0020098,Orphanet,168621,ORPHA:168621,13,HP:0008829,Delayed femoral head ossification,Frequent (79-30%),TAS,,,,"[PMID:10482209, PMID:21138215]",y,y +GARD:0020098,Orphanet,168621,ORPHA:168621,13,HP:0008835,Multicentric femoral head ossification,Frequent (79-30%),TAS,,,,"[PMID:10482209, PMID:21138215]",y,y +GARD:0020098,Orphanet,168621,ORPHA:168621,13,HP:0012514,Lower limb pain,Occasional (29-5%),TAS,,,,"[PMID:10482209, PMID:21138215]",y,y +GARD:0020098,Orphanet,168621,ORPHA:168621,13,HP:0030812,Enlarged tonsils,Very rare (<4-1%),TAS,,,,"[PMID:10482209, PMID:21138215]",y,y +GARD:0020098,Orphanet,168621,ORPHA:168621,13,HP:0031955,Antalgic gait,Occasional (29-5%),TAS,,,,"[PMID:10482209, PMID:21138215]",y,y +GARD:0020102,Orphanet,168811,ORPHA:168811,10,HP:0001541,Ascites,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020102,Orphanet,168811,ORPHA:168811,10,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0020102,Orphanet,168811,ORPHA:168811,10,HP:0001928,Abnormality of coagulation,Occasional (29-5%),TAS,,,,,y,y +GARD:0020102,Orphanet,168811,ORPHA:168811,10,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020102,Orphanet,168811,ORPHA:168811,10,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0020102,Orphanet,168811,ORPHA:168811,10,HP:0002586,Peritonitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020102,Orphanet,168811,ORPHA:168811,10,HP:0002595,Ileus,Occasional (29-5%),TAS,,,,,y,y +GARD:0020102,Orphanet,168811,ORPHA:168811,10,HP:0002664,Neoplasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020102,Orphanet,168811,ORPHA:168811,10,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020102,Orphanet,168811,ORPHA:168811,10,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0020103,Orphanet,168829,ORPHA:168829,6,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020103,Orphanet,168829,ORPHA:168829,6,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020103,Orphanet,168829,ORPHA:168829,6,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020103,Orphanet,168829,ORPHA:168829,6,HP:0002586,Peritonitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020103,Orphanet,168829,ORPHA:168829,6,HP:0002664,Neoplasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020103,Orphanet,168829,ORPHA:168829,6,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0000491,Keratitis,Occasional (29-5%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0000559,Corneal scarring,Occasional (29-5%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0000632,Lacrimation abnormality,Frequent (79-30%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0000643,Blepharospasm,Frequent (79-30%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0007727,Opacification of the corneal epithelium,Occasional (29-5%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0008000,Decreased corneal reflex,Frequent (79-30%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0009926,Epiphora,Frequent (79-30%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0011494,Generalized opacification of the cornea,Occasional (29-5%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0011496,Corneal neovascularization,Occasional (29-5%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0030953,Conjunctival hyperemia,Frequent (79-30%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0100583,Corneal perforation,Very rare (<4-1%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0200026,Ocular pain,Frequent (79-30%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020123,Orphanet,171673,ORPHA:171673,15,HP:0500008,Cornea verticillata,Very rare (<4-1%),TAS,,,,"[PMID:27856177, PMID:29109898, PMID:29113917]",y,y +GARD:0020125,Orphanet,171703,ORPHA:171703,7,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,[PMID:17353897],y,y +GARD:0020125,Orphanet,171703,ORPHA:171703,7,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,[PMID:17353897],y,y +GARD:0020125,Orphanet,171703,ORPHA:171703,7,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,[PMID:17353897],y,y +GARD:0020125,Orphanet,171703,ORPHA:171703,7,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:17353897],y,y +GARD:0020125,Orphanet,171703,ORPHA:171703,7,HP:0002126,Polymicrogyria,Frequent (79-30%),TAS,,,,[PMID:17353897],y,y +GARD:0020125,Orphanet,171703,ORPHA:171703,7,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,[PMID:17353897],y,y +GARD:0020125,Orphanet,171703,ORPHA:171703,7,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,[PMID:17353897],y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000341,Narrow forehead,Frequent (79-30%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0000765,Abnormal thorax morphology,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0001833,Long foot,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0002370,Poor coordination,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0007874,Almond-shaped palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0025160,Abnormal temper tantrums,Frequent (79-30%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020126,Orphanet,171829,ORPHA:171829,32,HP:0031703,Abnormal ear morphology,Occasional (29-5%),TAS,,,,"[PMID:16829351, PMID:18925680, PMID:20301505]",y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000089,Renal hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000104,Renal agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000239,Large fontanelles,Frequent (79-30%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000262,Turricephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0001285,Spastic tetraparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0001601,Laryngomalacia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0002000,Short columella,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0002308,Chiari malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0002974,Radioulnar synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0007375,Abnormality of the septum pellucidum,Frequent (79-30%),TAS,,,,,y,y +GARD:0020127,Orphanet,171839,ORPHA:171839,41,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020128,Orphanet,171860,ORPHA:171860,13,HP:0000329,Facial hemangioma,Occasional (29-5%),TAS,,,,[PMID:18781183],y,y +GARD:0020128,Orphanet,171860,ORPHA:171860,13,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,[PMID:18781183],y,y +GARD:0020128,Orphanet,171860,ORPHA:171860,13,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,[PMID:18781183],y,y +GARD:0020128,Orphanet,171860,ORPHA:171860,13,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:18781183],y,y +GARD:0020128,Orphanet,171860,ORPHA:171860,13,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,[PMID:18781183],y,y +GARD:0020128,Orphanet,171860,ORPHA:171860,13,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:18781183],y,y +GARD:0020128,Orphanet,171860,ORPHA:171860,13,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:18781183],y,y +GARD:0020128,Orphanet,171860,ORPHA:171860,13,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:18781183],y,y +GARD:0020128,Orphanet,171860,ORPHA:171860,13,HP:0002942,Thoracic kyphosis,Frequent (79-30%),TAS,,,,[PMID:18781183],y,y +GARD:0020128,Orphanet,171860,ORPHA:171860,13,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,[PMID:18781183],y,y +GARD:0020128,Orphanet,171860,ORPHA:171860,13,HP:0006380,Knee flexion contracture,Frequent (79-30%),TAS,,,,[PMID:18781183],y,y +GARD:0020128,Orphanet,171860,ORPHA:171860,13,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:18781183],y,y +GARD:0020128,Orphanet,171860,ORPHA:171860,13,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,[PMID:18781183],y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000060,Clitoral hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000064,Hypoplastic labia minora,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000709,Psychosis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000789,Infertility,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0002871,Central apnea,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0003241,External genital hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0007874,Almond-shaped palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0008770,Obsessive-compulsive trait,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0010627,Anterior pituitary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0011734,Central adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0011787,Central hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0012104,Parietal cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0012105,Occipital cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0012166,Skin-picking,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0012411,Premature pubarche,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0012412,Premature adrenarche,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0012650,Perisylvian polymicrogyria,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0025160,Abnormal temper tantrums,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0030339,Decreased circulating gonadotropin concentration,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0031100,Decreased inhibin B level,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0031169,Postterm pregnancy,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0031507,Decreased circulating T4 level,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0100716,Self-injurious behavior,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0100739,Bulimia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020138,Orphanet,177901,ORPHA:177901,71,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000060,Clitoral hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000064,Hypoplastic labia minora,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000709,Psychosis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000789,Infertility,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0002591,Polyphagia,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0002871,Central apnea,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0003241,External genital hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0007874,Almond-shaped palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0008770,Obsessive-compulsive trait,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0010627,Anterior pituitary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0011734,Central adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0011787,Central hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0012104,Parietal cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0012105,Occipital cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0012166,Skin-picking,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0012411,Premature pubarche,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0012412,Premature adrenarche,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0012650,Perisylvian polymicrogyria,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0025160,Abnormal temper tantrums,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0030339,Decreased circulating gonadotropin concentration,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0031100,Decreased inhibin B level,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0031169,Postterm pregnancy,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0031507,Decreased circulating T4 level,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0100716,Self-injurious behavior,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0100739,Bulimia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020139,Orphanet,177904,ORPHA:177904,71,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:31920975]",y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0000954,Single transverse palmar crease,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0001591,Bell-shaped thorax,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0002792,Reduced vital capacity,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0002804,Arthrogryposis multiplex congenita,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0003327,Axial muscle weakness,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0003789,Minicore myopathy,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0008050,Abnormality of the palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020143,Orphanet,178148,ORPHA:178148,21,HP:0100297,Increased endomysial connective tissue,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0001735,Acute pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0002113,Pulmonary infiltrates,Frequent (79-30%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0011112,Abnormality of serum cytokine level,Frequent (79-30%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0011118,Abnormality of tumor necrosis factor secretion,Occasional (29-5%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0025420,Diffuse alveolar hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0030783,Increased circulating interleukin 6 concentration,Frequent (79-30%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0030955,Alcoholism,Occasional (29-5%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0031273,Shock,Occasional (29-5%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0032094,Increased circulating surfactant protein level,Frequent (79-30%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020146,Orphanet,178320,ORPHA:178320,21,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:22268322, PMID:25466727, PMID:27652982]",y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0002315,Headache,Occasional (29-5%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0002684,Thickened calvaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0020147,Orphanet,178377,ORPHA:178377,16,HP:0012802,Broad jaw,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0000016,Urinary retention,Frequent (79-30%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0000651,Diplopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0001695,Cardiac arrest,Occasional (29-5%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0006597,Diaphragmatic paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0011499,Mydriasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020149,Orphanet,178475,ORPHA:178475,15,HP:0100021,Cerebral palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0000217,Xerostomia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0000298,Mask-like facies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0000389,Chronic otitis media,Occasional (29-5%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0000600,Abnormality of the pharynx,Frequent (79-30%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0000651,Diplopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0001097,Keratoconjunctivitis sicca,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0001620,High pitched voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0001695,Cardiac arrest,Occasional (29-5%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0002307,Drooling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0002607,Bowel incontinence,Frequent (79-30%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0011499,Mydriasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0100021,Cerebral palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020150,Orphanet,178478,ORPHA:178478,28,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020151,Orphanet,178481,ORPHA:178481,13,HP:0000217,Xerostomia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020151,Orphanet,178481,ORPHA:178481,13,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020151,Orphanet,178481,ORPHA:178481,13,HP:0000651,Diplopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020151,Orphanet,178481,ORPHA:178481,13,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020151,Orphanet,178481,ORPHA:178481,13,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020151,Orphanet,178481,ORPHA:178481,13,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0020151,Orphanet,178481,ORPHA:178481,13,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0020151,Orphanet,178481,ORPHA:178481,13,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020151,Orphanet,178481,ORPHA:178481,13,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0020151,Orphanet,178481,ORPHA:178481,13,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0020151,Orphanet,178481,ORPHA:178481,13,HP:0002747,Respiratory insufficiency due to muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0020151,Orphanet,178481,ORPHA:178481,13,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020151,Orphanet,178481,ORPHA:178481,13,HP:0011499,Mydriasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020152,Orphanet,178487,ORPHA:178487,9,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020152,Orphanet,178487,ORPHA:178487,9,HP:0000651,Diplopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020152,Orphanet,178487,ORPHA:178487,9,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020152,Orphanet,178487,ORPHA:178487,9,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0020152,Orphanet,178487,ORPHA:178487,9,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0020152,Orphanet,178487,ORPHA:178487,9,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0020152,Orphanet,178487,ORPHA:178487,9,HP:0006597,Diaphragmatic paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020152,Orphanet,178487,ORPHA:178487,9,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020152,Orphanet,178487,ORPHA:178487,9,HP:0100021,Cerebral palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0000829,Hypoparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0000872,Hashimoto thyroiditis,Frequent (79-30%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0001278,Orthostatic hypotension,Occasional (29-5%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0001897,Normocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0001972,Macrocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002149,Hyperuricemia,Frequent (79-30%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002153,Hyperkalemia,Excluded (0%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002608,Celiac disease,Occasional (29-5%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002893,Pituitary adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002920,Decreased circulating ACTH level,Very frequent (99-80%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0006462,Generalized bone demineralization,Occasional (29-5%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0008163,Decreased circulating cortisol level,Obligate (100%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0008209,Premature ovarian insufficiency,Frequent (79-30%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0011134,Low-grade fever,Frequent (79-30%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0011735,Adrenocorticotropin deficient adrenal insufficiency,Obligate (100%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0011748,Adrenocorticotropic hormone deficiency,Obligate (100%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0100647,Graves disease,Frequent (79-30%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0100651,Type I diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020331,Orphanet,199299,ORPHA:199299,41,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:10209566, PMID:12911282, PMID:17371483, PMID:19110973, PMID:20400889, PMID:2545769]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0000035,Abnormal testis morphology,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0000045,Abnormality of the scrotum,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0000048,Bifid scrotum,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0000051,Perineal hypospadias,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0000137,Abnormality of the ovary,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0000954,Single transverse palmar crease,Frequent (79-30%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0001263,Global developmental delay,Excluded (0%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0008665,Clitoral hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0008723,"Gonadal dysgenesis with female appearance, male",Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0010459,True hermaphroditism,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0010970,Blood group antigen abnormality,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0010987,Abnormal cellular immune system morphology,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0012145,Abnormality of multiple cell lineages in the bone marrow,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020332,Orphanet,199310,ORPHA:199310,18,HP:0012861,Ovotestis,Very frequent (99-80%),TAS,,,,"[PMID:17430077, PMID:1743077, PMID:17917028, PMID:19154517, PMID:19255770, PMID:19777529, PMID:20664426, PMID:20692777, PMID:21554308, PMID:23726690, PMID:24706113]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0000467,Neck muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0000649,Abnormality of visual evoked potentials,Very frequent (99-80%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0000737,Irritability,Very frequent (99-80%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0001053,Hypopigmented skin patches,Very rare (<4-1%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0001264,Spastic diplegia,Very rare (<4-1%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0001601,Laryngomalacia,Very rare (<4-1%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0001955,Unexplained fevers,Very frequent (99-80%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002179,Opisthotonus,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002344,Progressive neurologic deterioration,Very frequent (99-80%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002361,Psychomotor deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002506,Diffuse cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002518,Abnormal periventricular white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0002922,Increased CSF protein,Very frequent (99-80%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0003547,Shoulder girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0003552,Muscle stiffness,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0004302,Functional motor deficit,Very frequent (99-80%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0004466,Prolonged brainstem auditory evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0005968,Temperature instability,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0007103,Hypointensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0007141,Sensorimotor neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0009062,Infantile axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0010729,Cherry red spot of the macula,Very rare (<4-1%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0011448,Ankle clonus,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0012706,Elevated brain choline level by MRS,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0012708,Reduced brain N-acetyl aspartate level by MRS,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0025013,Decerebrate rigidity,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0030211,Slow pupillary light response,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0030215,Inappropriate crying,Very frequent (99-80%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0031161,Reduced brain glutamate level by MRS,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0031860,Abnormal heart rate variability,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0040194,Increased head circumference,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0040195,Decreased head circumference,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020343,Orphanet,206436,ORPHA:206436,62,HP:0100963,Hyperesthesia,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29391017, PMID:29933067, PMID:31053700]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0000649,Abnormality of visual evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0000737,Irritability,Very rare (<4-1%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0001264,Spastic diplegia,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0002068,Neuromuscular dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0002313,Spastic paraparesis,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0002371,Loss of speech,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0002445,Tetraplegia,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0002505,Loss of ambulation,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0002922,Increased CSF protein,Very frequent (99-80%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0003484,Upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0004466,Prolonged brainstem auditory evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0010830,Impaired tactile sensation,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0010846,EEG with persistent abnormal rhythmic activity,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0011400,Abnormal CNS myelination,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020344,Orphanet,206443,ORPHA:206443,44,HP:0031006,Acroparesthesia,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0000020,Urinary incontinence,Very rare (<4-1%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0001761,Pes cavus,Very rare (<4-1%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0002062,Morphological abnormality of the pyramidal tract,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0002136,Broad-based gait,Very rare (<4-1%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0002273,Tetraparesis,Very rare (<4-1%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0002301,Hemiplegia,Very rare (<4-1%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0002344,Progressive neurologic deterioration,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0002371,Loss of speech,Very rare (<4-1%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0002418,Abnormal midbrain morphology,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0002492,Morphological abnormality of the corticospinal tract,Very rare (<4-1%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0002493,Upper motor neuron dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0003484,Upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0004466,Prolonged brainstem auditory evoked potentials,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0006801,Hyperactive deep tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0007141,Sensorimotor neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0007199,Progressive spastic paraparesis,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0007305,CNS demyelination,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0007340,Lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0007361,Abnormal pons morphology,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0010830,Impaired tactile sensation,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0011096,Peripheral demyelination,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0011441,Abnormality of the medulla oblongata,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0012379,Abnormal enzyme/coenzyme activity,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0031006,Acroparesthesia,Occasional (29-5%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0031993,Hoffmann sign,Frequent (79-30%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020345,Orphanet,206448,ORPHA:206448,40,HP:0100639,Erectile dysfunction,Very rare (<4-1%),TAS,,,,"[PMID:20301416, PMID:24384330, PMID:29951496, PMID:30899093, PMID:31337714]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0001435,Abnormality of the shoulder girdle musculature,Occasional (29-5%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0002380,Fasciculations,Excluded (0%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0002938,Lumbar hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0002942,Thoracic kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0002943,Thoracic scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0002987,Elbow flexion contracture,Very rare (<4-1%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0003324,Generalized muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0003409,Distal sensory impairment of all modalities,Excluded (0%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0003710,Exercise-induced muscle cramps,Occasional (29-5%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0003731,Quadriceps muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0008981,Calf muscle hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020350,Orphanet,206546,ORPHA:206546,20,HP:0030097,Absent muscle dystrophin expression,Occasional (29-5%),TAS,,,,"[PMID:20301298, PMID:32022138]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0000988,Skin rash,Very rare (<4-1%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0002829,Arthralgia,Very rare (<4-1%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0003327,Axial muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0003458,EMG: myopathic abnormalities,Very frequent (99-80%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0003691,Scapular winging,Occasional (29-5%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0003713,Muscle fiber necrosis,Very frequent (99-80%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0030057,Autoimmune antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0030200,Fatiguable weakness of proximal limb muscles,Very frequent (99-80%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0030880,Raynaud phenomenon,Very rare (<4-1%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0100614,Myositis,Frequent (79-30%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020351,Orphanet,206569,ORPHA:206569,22,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:29582188, PMID:30639649, PMID:33093664]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0001370,Rheumatoid arthritis,Very rare (<4-1%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0002273,Tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0003119,Abnormal circulating lipid concentration,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0003493,Antinuclear antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0003549,Abnormality of connective tissue,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0003551,Difficulty climbing stairs,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0004269,Subluxation of the small joints of the hand,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0008997,Proximal muscle weakness in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0009763,Limb pain,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0011121,Abnormality of skin morphology,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0011838,Sclerodactyly,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0025131,Finger swelling,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0025142,Constitutional symptom,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0030880,Raynaud phenomenon,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0032169,Severe infection,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0100296,Perifascicular muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020352,Orphanet,206572,ORPHA:206572,34,HP:0100324,Scleroderma,Occasional (29-5%),TAS,,,,"[PMID:29865091, PMID:30968571, PMID:33458584]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0000762,Decreased nerve conduction velocity,Very frequent (99-80%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0001430,Abnormality of the calf musculature,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0002086,Abnormality of the respiratory system,Very rare (<4-1%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0002270,Abnormality of the autonomic nervous system,Very rare (<4-1%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0002403,Positive Romberg sign,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0002922,Increased CSF protein,Very frequent (99-80%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0002936,Distal sensory impairment,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0003237,Increased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0003376,Steppage gait,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0003431,Decreased motor nerve conduction velocity,Very frequent (99-80%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0003447,Axonal loss,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0003448,Decreased sensory nerve conduction velocity,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0006376,Limited elbow flexion,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0006824,Cranial nerve paralysis,Very rare (<4-1%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0006844,Absent patellar reflexes,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0006881,Diffuse peripheral demyelination,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0007078,Decreased amplitude of sensory action potentials,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0007220,Demyelinating motor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0007230,Decreased distal sensory nerve action potential,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0007262,Symmetric peripheral demyelination,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0007377,Abnormality of somatosensory evoked potentials,Very frequent (99-80%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0008800,Limited hip movement,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0010505,Limitation of movement at ankles,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0011096,Peripheral demyelination,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0012078,Motor conduction block,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020355,Orphanet,206594,ORPHA:206594,41,HP:0032169,Severe infection,Occasional (29-5%),TAS,,,,"[PMID:12929187, PMID:15911813, PMID:22005162, PMID:25299280, PMID:31307604]",y,y +GARD:0020356,Orphanet,206599,ORPHA:206599,4,HP:0000118,Phenotypic abnormality,Excluded (0%),TAS,,,,[PMID:26000160],y,y +GARD:0020356,Orphanet,206599,ORPHA:206599,4,HP:0003198,Myopathy,Excluded (0%),TAS,,,,[PMID:26000160],y,y +GARD:0020356,Orphanet,206599,ORPHA:206599,4,HP:0003236,Elevated circulating creatine kinase concentration,Obligate (100%),TAS,,,,[PMID:26000160],y,y +GARD:0020356,Orphanet,206599,ORPHA:206599,4,HP:0008331,Elevated creatine kinase after exercise,Excluded (0%),TAS,,,,[PMID:26000160],y,y +GARD:0020411,Orphanet,208981,ORPHA:208981,8,HP:0003445,EMG: neuropathic changes,Frequent (79-30%),TAS,,,,"[PMID:1603342, PMID:21040140, PMID:24980070, PMID:8232929]",y,y +GARD:0020411,Orphanet,208981,ORPHA:208981,8,HP:0006873,Symmetrical progressive peripheral demyelination,Frequent (79-30%),TAS,,,,"[PMID:1603342, PMID:21040140, PMID:24980070, PMID:8232929]",y,y +GARD:0020411,Orphanet,208981,ORPHA:208981,8,HP:0007220,Demyelinating motor neuropathy,Occasional (29-5%),TAS,,,,"[PMID:1603342, PMID:21040140, PMID:24980070, PMID:8232929]",y,y +GARD:0020411,Orphanet,208981,ORPHA:208981,8,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:1603342, PMID:21040140, PMID:24980070, PMID:8232929]",y,y +GARD:0020411,Orphanet,208981,ORPHA:208981,8,HP:0007340,Lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:1603342, PMID:21040140, PMID:24980070, PMID:8232929]",y,y +GARD:0020411,Orphanet,208981,ORPHA:208981,8,HP:0011402,Demyelinating sensory neuropathy,Frequent (79-30%),TAS,,,,"[PMID:1603342, PMID:21040140, PMID:24980070, PMID:8232929]",y,y +GARD:0020411,Orphanet,208981,ORPHA:208981,8,HP:0012514,Lower limb pain,Frequent (79-30%),TAS,,,,"[PMID:1603342, PMID:21040140, PMID:24980070, PMID:8232929]",y,y +GARD:0020411,Orphanet,208981,ORPHA:208981,8,HP:0031006,Acroparesthesia,Frequent (79-30%),TAS,,,,"[PMID:1603342, PMID:21040140, PMID:24980070, PMID:8232929]",y,y +GARD:0020415,Orphanet,209004,ORPHA:209004,12,HP:0002665,Lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:10540371, PMID:14641513, PMID:8380902]",y,y +GARD:0020415,Orphanet,209004,ORPHA:209004,12,HP:0003390,Sensory axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:10540371, PMID:14641513, PMID:8380902]",y,y +GARD:0020415,Orphanet,209004,ORPHA:209004,12,HP:0005508,Monoclonal immunoglobulin M proteinemia,Occasional (29-5%),TAS,,,,"[PMID:10540371, PMID:14641513, PMID:8380902]",y,y +GARD:0020415,Orphanet,209004,ORPHA:209004,12,HP:0006775,Multiple myeloma,Very rare (<4-1%),TAS,,,,"[PMID:10540371, PMID:14641513, PMID:8380902]",y,y +GARD:0020415,Orphanet,209004,ORPHA:209004,12,HP:0007002,Motor axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:10540371, PMID:14641513, PMID:8380902]",y,y +GARD:0020415,Orphanet,209004,ORPHA:209004,12,HP:0007240,Progressive gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:10540371, PMID:14641513, PMID:8380902]",y,y +GARD:0020415,Orphanet,209004,ORPHA:209004,12,HP:0007267,Chronic axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:10540371, PMID:14641513, PMID:8380902]",y,y +GARD:0020415,Orphanet,209004,ORPHA:209004,12,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10540371, PMID:14641513, PMID:8380902]",y,y +GARD:0020415,Orphanet,209004,ORPHA:209004,12,HP:0012514,Lower limb pain,Occasional (29-5%),TAS,,,,"[PMID:10540371, PMID:14641513, PMID:8380902]",y,y +GARD:0020415,Orphanet,209004,ORPHA:209004,12,HP:0025346,Increased circulating beta-2-microglobulin level,Very rare (<4-1%),TAS,,,,"[PMID:10540371, PMID:14641513, PMID:8380902]",y,y +GARD:0020415,Orphanet,209004,ORPHA:209004,12,HP:0031006,Acroparesthesia,Occasional (29-5%),TAS,,,,"[PMID:10540371, PMID:14641513, PMID:8380902]",y,y +GARD:0020415,Orphanet,209004,ORPHA:209004,12,HP:0100778,Cryoglobulinemia,Very rare (<4-1%),TAS,,,,"[PMID:10540371, PMID:14641513, PMID:8380902]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0001396,Cholestasis,Very frequent (99-80%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0001397,Hepatic steatosis,Very frequent (99-80%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0001403,Macrovesicular hepatic steatosis,Very frequent (99-80%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0001677,Coronary artery atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0003124,Hypercholesterolemia,Very frequent (99-80%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0003141,Increased LDL cholesterol concentration,Very frequent (99-80%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0004943,Accelerated atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0006573,Acute hepatic steatosis,Very frequent (99-80%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0008372,Abnormality of vitamin A metabolism,Frequent (79-30%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0011980,Cholesterol gallstones,Very frequent (99-80%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0012115,Hepatitis,Very frequent (99-80%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0012397,Aortic atherosclerotic lesion,Frequent (79-30%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020441,Orphanet,209902,ORPHA:209902,15,HP:0100514,Abnormality of vitamin E metabolism,Frequent (79-30%),TAS,,,,"[PMID:11967256, PMID:12093884, PMID:12093894, PMID:2384150]",y,y +GARD:0020442,Orphanet,209956,ORPHA:209956,14,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:17458802, PMID:20159229, PMID:22218051, PMID:6676971, PMID:8762565]",y,y +GARD:0020442,Orphanet,209956,ORPHA:209956,14,HP:0000591,Abnormal sclera morphology,Very frequent (99-80%),TAS,,,,"[PMID:17458802, PMID:20159229, PMID:22218051, PMID:6676971, PMID:8762565]",y,y +GARD:0020442,Orphanet,209956,ORPHA:209956,14,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:17458802, PMID:20159229, PMID:22218051, PMID:6676971, PMID:8762565]",y,y +GARD:0020442,Orphanet,209956,ORPHA:209956,14,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,"[PMID:17458802, PMID:20159229, PMID:22218051, PMID:6676971, PMID:8762565]",y,y +GARD:0020442,Orphanet,209956,ORPHA:209956,14,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:17458802, PMID:20159229, PMID:22218051, PMID:6676971, PMID:8762565]",y,y +GARD:0020442,Orphanet,209956,ORPHA:209956,14,HP:0004328,Abnormal anterior eye segment morphology,Frequent (79-30%),TAS,,,,"[PMID:17458802, PMID:20159229, PMID:22218051, PMID:6676971, PMID:8762565]",y,y +GARD:0020442,Orphanet,209956,ORPHA:209956,14,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:17458802, PMID:20159229, PMID:22218051, PMID:6676971, PMID:8762565]",y,y +GARD:0020442,Orphanet,209956,ORPHA:209956,14,HP:0008052,Retinal fold,Occasional (29-5%),TAS,,,,"[PMID:17458802, PMID:20159229, PMID:22218051, PMID:6676971, PMID:8762565]",y,y +GARD:0020442,Orphanet,209956,ORPHA:209956,14,HP:0012231,Exudative retinal detachment,Frequent (79-30%),TAS,,,,"[PMID:17458802, PMID:20159229, PMID:22218051, PMID:6676971, PMID:8762565]",y,y +GARD:0020442,Orphanet,209956,ORPHA:209956,14,HP:0012508,Metamorphopsia,Occasional (29-5%),TAS,,,,"[PMID:17458802, PMID:20159229, PMID:22218051, PMID:6676971, PMID:8762565]",y,y +GARD:0020442,Orphanet,209956,ORPHA:209956,14,HP:0012632,Abnormal intraocular pressure,Excluded (0%),TAS,,,,"[PMID:17458802, PMID:20159229, PMID:22218051, PMID:6676971, PMID:8762565]",y,y +GARD:0020442,Orphanet,209956,ORPHA:209956,14,HP:0025339,Superficial episcleral hyperemia,Frequent (79-30%),TAS,,,,"[PMID:17458802, PMID:20159229, PMID:22218051, PMID:6676971, PMID:8762565]",y,y +GARD:0020442,Orphanet,209956,ORPHA:209956,14,HP:0030823,Scleral thickening,Frequent (79-30%),TAS,,,,"[PMID:17458802, PMID:20159229, PMID:22218051, PMID:6676971, PMID:8762565]",y,y +GARD:0020442,Orphanet,209956,ORPHA:209956,14,HP:0031526,Subretinal fluid,Frequent (79-30%),TAS,,,,"[PMID:17458802, PMID:20159229, PMID:22218051, PMID:6676971, PMID:8762565]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0000491,Keratitis,Frequent (79-30%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0000615,Abnormal pupil morphology,Frequent (79-30%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0004327,Abnormal vitreous humor morphology,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0007773,Vitreoretinopathy,Frequent (79-30%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0007906,Ocular hypertension,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0007917,Tractional retinal detachment,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0008030,Retinal arteritis,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0011484,Posterior synechiae of the anterior chamber,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0011488,Abnormal corneal endothelium morphology,Frequent (79-30%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0011505,Cystoid macular edema,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0011531,Vitritis,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0011886,Hyphema,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0012040,Corneal stromal edema,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0012121,Panuveitis,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0012122,Anterior uveitis,Frequent (79-30%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0012123,Posterior uveitis,Frequent (79-30%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0025337,Red eye,Frequent (79-30%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0025341,Corneal keratic precipitates,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0025561,Anterior chamber cells grade 1+,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0030485,Abnormal amplitude of pattern electroretinogram,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0030486,Abnormal timing of pattern electroretinogram,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0030953,Conjunctival hyperemia,Frequent (79-30%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0031615,Hypopyon,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0031618,Anterior chamber flare grade 1+,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0040049,Macular edema,Occasional (29-5%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0200026,Ocular pain,Very frequent (99-80%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020443,Orphanet,209959,ORPHA:209959,30,HP:0500081,Pseudophakia,Very frequent (99-80%),TAS,,,,"[PMID:31907641, PMID:32808145, PMID:32999673]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0000002,Abnormality of body height,Occasional (29-5%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0002035,Rectal prolapse,Occasional (29-5%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0002254,Intermittent diarrhea,Frequent (79-30%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0002573,Hematochezia,Very frequent (99-80%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0002574,Episodic abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0004325,Decreased body weight,Occasional (29-5%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0012390,Anal fissure,Occasional (29-5%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0012425,Stercoral ulcer,Very rare (<4-1%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0012450,Chronic constipation,Frequent (79-30%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0012702,Tenesmus,Occasional (29-5%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0025085,Bloody diarrhea,Occasional (29-5%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0025086,Bloody mucoid diarrhea,Occasional (29-5%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020444,Orphanet,209964,ORPHA:209964,16,HP:0500005,Anal pain,Frequent (79-30%),TAS,,,,"[PMID:29718850, PMID:31687110, PMID:32097373]",y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0001409,Portal hypertension,Very frequent (99-80%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0001433,Hepatosplenomegaly,Very frequent (99-80%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0001685,Myocardial fibrosis,Occasional (29-5%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0002103,Abnormal pleura morphology,Occasional (29-5%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0002206,Pulmonary fibrosis,Very frequent (99-80%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0003281,Increased circulating ferritin concentration,Frequent (79-30%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0005528,Bone marrow hypocellularity,Very frequent (99-80%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0006707,Abnormality of the hepatic vasculature,Frequent (79-30%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0011954,Nodular regenerative hyperplasia of liver,Very frequent (99-80%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0012735,Cough,Frequent (79-30%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0030829,Abnormal breath sound,Occasional (29-5%),TAS,,,,[PMID:19401489],y,y +GARD:0020449,Orphanet,210136,ORPHA:210136,16,HP:0030830,Crackles,Frequent (79-30%),TAS,,,,[PMID:19401489],y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0000736,Short attention span,Very frequent (99-80%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0000738,Hallucinations,Frequent (79-30%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0000746,Delusions,Frequent (79-30%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0001278,Orthostatic hypotension,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0001289,Confusion,Very frequent (99-80%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0002179,Opisthotonus,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0002310,Orofacial dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0002371,Loss of speech,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0003006,Neuroblastoma,Very rare (<4-1%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0003781,Excessive salivation,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0008763,No social interaction,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0010553,Oculogyric crisis,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0011289,EEG with temporal sharp slow waves,Frequent (79-30%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0012173,Orthostatic tachycardia,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0012189,Hodgkin lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0012226,Ovarian teratoma,Frequent (79-30%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0012229,CSF pleocytosis,Very frequent (99-80%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0012333,Abnormal sudomotor regulation,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0030214,Hypersexuality,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0031258,Delirium,Occasional (29-5%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0032264,Anti-NMDA receptor antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0032266,CSF anti-NMDA receptor antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0100013,Neoplasm of the breast,Very rare (<4-1%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0100521,Neoplasm of the thymus,Very rare (<4-1%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0100526,Neoplasm of the lung,Very rare (<4-1%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0100616,Testicular teratoma,Very rare (<4-1%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0100754,Mania,Frequent (79-30%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020513,Orphanet,217253,ORPHA:217253,53,HP:0100785,Insomnia,Frequent (79-30%),TAS,,,,"[PMID:26899887, PMID:31085562]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0001677,Coronary artery atherosclerosis,Excluded (0%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0001712,Left ventricular hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0004308,Ventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0004890,Elevated pulmonary artery pressure,Occasional (29-5%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0005110,Atrial fibrillation,Frequent (79-30%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0005133,Right ventricular dilatation,Frequent (79-30%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0011713,Left bundle branch block,Occasional (29-5%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0012664,Reduced ejection fraction,Frequent (79-30%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0025169,Left ventricular systolic dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020525,Orphanet,217607,ORPHA:217607,17,HP:0040081,Abnormal circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:20301486, PMID:27889554, PMID:28193717, PMID:29235529, PMID:30482687, PMID:30705741]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0000273,Facial grimacing,Frequent (79-30%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0000298,Mask-like facies,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0000338,Hypomimic face,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0002067,Bradykinesia,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0002322,Resting tremor,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0002533,Abnormal posturing,Frequent (79-30%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0005366,Recurrent streptococcus pneumoniae infections,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0007158,Progressive extrapyramidal muscular rigidity,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0009062,Infantile axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0011151,Atypical absence status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0025439,Pharyngitis,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0030187,Titubation,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0030215,Inappropriate crying,Frequent (79-30%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020549,Orphanet,225147,ORPHA:225147,38,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:17940250, PMID:7619197]",y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0000853,Goiter,Frequent (79-30%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0001615,Hoarse cry,Frequent (79-30%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0002045,Hypothermia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0002445,Tetraplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0008188,Thyroid dysgenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0020560,Orphanet,226292,ORPHA:226292,20,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0000044,Hypogonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0000282,Facial edema,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0000839,Pituitary dwarfism,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0000871,Panhypopituitarism,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0001662,Bradycardia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0002045,Hypothermia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0002920,Decreased circulating ACTH level,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0004491,Large posterior fontanelle,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0004637,Decreased cervical spine mobility,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0005990,Thyroid hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0006579,Prolonged neonatal jaundice,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0008202,Reduced circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0008245,Pituitary hypothyroidism,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0008828,Delayed proximal femoral epiphyseal ossification,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0009381,Short finger,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0010627,Anterior pituitary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0011437,Maternal autoimmune disease,Excluded (0%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0011755,Ectopic posterior pituitary,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0025483,Abnormal circulating thyroglobulin level,Excluded (0%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0025502,Overweight,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0030341,Decreased circulating follicle stimulating hormone concentration,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0030344,Decreased circulating luteinizing hormone level,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0031098,Decreased thyroid-stimulating hormone level,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0031218,Inappropriate antidiuretic hormone secretion,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0031219,Reduced radioactive iodine uptake,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0031507,Decreased circulating T4 level,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020562,Orphanet,226307,ORPHA:226307,51,HP:0040075,Hypopituitarism,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:25231446, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0000851,Congenital hypothyroidism,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0000853,Goiter,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0001070,Mottled pigmentation,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0001538,Protuberant abdomen,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0002045,Hypothermia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0002663,Delayed epiphyseal ossification,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0002925,Elevated circulating thyroid-stimulating hormone concentration,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0004491,Large posterior fontanelle,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0006579,Prolonged neonatal jaundice,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0008820,Absent ossification of capital femoral epiphysis,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0031507,Decreased circulating T4 level,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0100786,Hypersomnia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020563,Orphanet,226313,ORPHA:226313,26,HP:0500011,Moon facies,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:31049292, PMID:32607131, PMID:5261]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0000853,Goiter,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0000969,Edema,Very rare (<4-1%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0001070,Mottled pigmentation,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0001252,Hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0001615,Hoarse cry,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0002045,Hypothermia,Very rare (<4-1%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0002925,Elevated circulating thyroid-stimulating hormone concentration,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0005990,Thyroid hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0006579,Prolonged neonatal jaundice,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0008263,Thyroid defect in oxidation and organification of iodide,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0011437,Maternal autoimmune disease,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0025484,Increased circulating thyroglobulin level,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0031169,Postterm pregnancy,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0031221,Abnormal radioactive iodine uptake test result,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0031507,Decreased circulating T4 level,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020564,Orphanet,226316,ORPHA:226316,21,HP:0100786,Hypersomnia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21543982, PMID:28504502, PMID:31172499, PMID:32565793, PMID:33490161]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0000640,Gaze-evoked nystagmus,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002067,Bradykinesia,Occasional (29-5%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002068,Neuromuscular dysphagia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002310,Orofacial dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002322,Resting tremor,Occasional (29-5%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002494,Abnormal rapid eye movement sleep,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0002530,Axial dystonia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0004926,Orthostatic hypotension due to autonomic dysfunction,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0005341,Autonomic bladder dysfunction,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0008652,Autonomic erectile dysfunction,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0010307,Stridor,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0010536,Central sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0010545,Downbeat nystagmus,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0012658,Abnormal brain FDG positron emission tomography,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0012670,Orthostatic syncope,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0030015,Female anorgasmia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0030880,Raynaud phenomenon,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020565,Orphanet,227510,ORPHA:227510,35,HP:0100595,Camptocormia,Occasional (29-5%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0000217,Xerostomia,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0000815,Hypergonadotropic hypogonadism,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0000863,Central diabetes insipidus,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0000872,Hashimoto thyroiditis,Excluded (0%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0000938,Osteopenia,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0001094,Iridocyclitis,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0001097,Keratoconjunctivitis sicca,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0001370,Rheumatoid arthritis,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0001970,Tubulointerstitial nephritis,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0001972,Macrocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0001973,Autoimmune thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0002582,Atrophic gastritis,Frequent (79-30%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0002608,Celiac disease,Frequent (79-30%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0002613,Biliary cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0002728,Chronic mucocutaneous candidiasis,Excluded (0%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0002960,Autoimmunity,Obligate (100%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0003613,Antiphospholipid antibody positivity,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0006530,Abnormal pulmonary interstitial morphology,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0008066,Abnormal blistering of the skin,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0008207,Primary adrenal insufficiency,Excluded (0%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0010451,Aplasia/Hypoplasia of the spleen,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0010625,Anterior pituitary dysgenesis,Occasional (29-5%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0012115,Hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0012220,Non-caseating epithelioid cell granulomatosis,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0030057,Autoimmune antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0100522,Thymoma,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0100647,Graves disease,Excluded (0%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020567,Orphanet,227990,ORPHA:227990,32,HP:0100651,Type I diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0002092,Pulmonary arterial hypertension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0002105,Hemoptysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0002204,Pulmonary embolism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0002315,Headache,Frequent (79-30%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0002633,Vasculitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0004936,Venous thrombosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0004937,Pulmonary artery aneurysm,Frequent (79-30%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0006543,Cardiorespiratory arrest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0010741,Pedal edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0100545,Arterial stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0100576,Amaurosis fugax,Frequent (79-30%),TAS,,,,,y,y +GARD:0020569,Orphanet,228116,ORPHA:228116,18,HP:0100749,Chest pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0000077,Abnormality of the kidney,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0000246,Sinusitis,Frequent (79-30%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0000479,Abnormal retinal morphology,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0000491,Keratitis,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0001369,Arthritis,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0001392,Abnormality of the liver,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0001743,Abnormality of the spleen,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0001818,Paronychia,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0001888,Lymphopenia,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0002110,Bronchiectasis,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0002113,Pulmonary infiltrates,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0002586,Peritonitis,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0002754,Osteomyelitis,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0004377,Hematological neoplasm,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0006516,Hypersensitivity pneumonitis,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0008066,Abnormal blistering of the skin,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0011356,Regional abnormality of skin,Frequent (79-30%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0011450,Unusual CNS infection,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0012203,Onychomycosis,Frequent (79-30%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0012490,Panniculitis,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0020101,Invasive fungal infection,Frequent (79-30%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0020153,"Positive blood 1,3 beta glucan test",Very frequent (99-80%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0025044,Lung abscess,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0025179,Ground-glass opacification,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0030049,Brain abscess,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0031245,Productive cough,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0031457,Pulmonary opacity,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0032156,Skin detachment,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0032172,Air crescent sign,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0032177,Parenchymal consolidation,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0032252,Granuloma,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0040186,Maculopapular exanthema,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0100537,Fasciitis,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0100614,Myositis,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0100658,Cellulitis,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0200034,Papule,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020570,Orphanet,228119,ORPHA:228119,47,HP:0410017,Otitis externa,Very rare (<4-1%),TAS,,,,"[PMID:14748803, PMID:26398537, PMID:30102950]",y,y +GARD:0020585,Orphanet,228277,ORPHA:228277,6,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,[PMID:15318943],y,y +GARD:0020585,Orphanet,228277,ORPHA:228277,6,HP:0002761,Generalized joint laxity,Frequent (79-30%),TAS,,,,[PMID:15318943],y,y +GARD:0020585,Orphanet,228277,ORPHA:228277,6,HP:0002938,Lumbar hyperlordosis,Frequent (79-30%),TAS,,,,[PMID:15318943],y,y +GARD:0020585,Orphanet,228277,ORPHA:228277,6,HP:0002992,Abnormality of tibia morphology,Frequent (79-30%),TAS,,,,[PMID:15318943],y,y +GARD:0020585,Orphanet,228277,ORPHA:228277,6,HP:0040079,Irregular dentition,Frequent (79-30%),TAS,,,,[PMID:15318943],y,y +GARD:0020585,Orphanet,228277,ORPHA:228277,6,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,[PMID:15318943],y,y +GARD:0020590,Orphanet,228312,ORPHA:228312,8,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020590,Orphanet,228312,ORPHA:228312,8,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020590,Orphanet,228312,ORPHA:228312,8,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0020590,Orphanet,228312,ORPHA:228312,8,HP:0001878,Hemolytic anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020590,Orphanet,228312,ORPHA:228312,8,HP:0001881,Abnormal leukocyte morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020590,Orphanet,228312,ORPHA:228312,8,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020590,Orphanet,228312,ORPHA:228312,8,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020590,Orphanet,228312,ORPHA:228312,8,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0000016,Urinary retention,Frequent (79-30%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0000217,Xerostomia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0000651,Diplopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0003470,Paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0006543,Cardiorespiratory arrest,Occasional (29-5%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0006597,Diaphragmatic paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0011499,Mydriasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020591,Orphanet,228371,ORPHA:228371,19,HP:0100021,Cerebral palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0000308,Microretrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0000496,Abnormality of eye movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0000561,Absent eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0001092,Absent lacrimal punctum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0004422,Biparietal narrowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0005180,Tricuspid regurgitation,Frequent (79-30%),TAS,,,,,y,y +GARD:0020593,Orphanet,228396,ORPHA:228396,18,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0000276,Long face,Frequent (79-30%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0000951,Abnormality of the skin,Occasional (29-5%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0001634,Mitral valve prolapse,Very frequent (99-80%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0001654,Abnormal heart valve morphology,Very frequent (99-80%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0001699,Sudden death,Occasional (29-5%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,[PMID:19932204],y,y +GARD:0020594,Orphanet,228410,ORPHA:228410,23,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,[PMID:19932204],y,y +GARD:0020595,Orphanet,228415,ORPHA:228415,9,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020595,Orphanet,228415,ORPHA:228415,9,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020595,Orphanet,228415,ORPHA:228415,9,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0020595,Orphanet,228415,ORPHA:228415,9,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020595,Orphanet,228415,ORPHA:228415,9,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0020595,Orphanet,228415,ORPHA:228415,9,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020595,Orphanet,228415,ORPHA:228415,9,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020595,Orphanet,228415,ORPHA:228415,9,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0020595,Orphanet,228415,ORPHA:228415,9,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020597,Orphanet,230800,ORPHA:230800,12,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0020597,Orphanet,230800,ORPHA:230800,12,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020597,Orphanet,230800,ORPHA:230800,12,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020597,Orphanet,230800,ORPHA:230800,12,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020597,Orphanet,230800,ORPHA:230800,12,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020597,Orphanet,230800,ORPHA:230800,12,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0020597,Orphanet,230800,ORPHA:230800,12,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0020597,Orphanet,230800,ORPHA:230800,12,HP:0003470,Paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020597,Orphanet,230800,ORPHA:230800,12,HP:0006597,Diaphragmatic paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020597,Orphanet,230800,ORPHA:230800,12,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020597,Orphanet,230800,ORPHA:230800,12,HP:0011499,Mydriasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020597,Orphanet,230800,ORPHA:230800,12,HP:0100021,Cerebral palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0000790,Hematuria,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0000967,Petechiae,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0001698,Pericardial effusion,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0001701,Pericarditis,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0003138,Increased blood urea nitrogen,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0003493,Antinuclear antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0005184,Prolonged QTc interval,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0005421,Decreased serum complement C3,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0011227,Elevated circulating C-reactive protein concentration,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0025142,Constitutional symptom,Occasional (29-5%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0025300,Malar rash,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0025343,Lupus anticoagulant,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0030057,Autoimmune antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0045042,Decreased serum complement C4,Very frequent (99-80%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020599,Orphanet,231111,ORPHA:231111,23,HP:0045073,Serositis,Frequent (79-30%),TAS,,,,"[PMID:26420637, PMID:26710505]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0000066,Labial hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0000331,Short chin,Frequent (79-30%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0000460,Narrow nose,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0001212,Prominent fingertip pads,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0001786,Narrow foot,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0002213,Fine hair,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0004482,Relative macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0009890,High anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020603,Orphanet,231137,ORPHA:231137,29,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:10631135, PMID:10987657, PMID:27585961, PMID:28764823]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0000331,Short chin,Very frequent (99-80%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0000811,Abnormal external genitalia,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0000975,Hyperhidrosis,Very rare (<4-1%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0001052,Nevus flammeus,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0001476,Delayed closure of the anterior fontanelle,Very rare (<4-1%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0001540,Diastasis recti,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0001998,Neonatal hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0004482,Relative macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0010442,Polydactyly,Occasional (29-5%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0100555,Asymmetric growth,Very frequent (99-80%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0100559,Lower limb asymmetry,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020604,Orphanet,231140,ORPHA:231140,28,HP:0100560,Upper limb asymmetry,Frequent (79-30%),TAS,,,,"[PMID:20301499, PMID:24945423, PMID:30221575]",y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0004482,Relative macrocephaly,Occasional (29-5%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0008846,Severe intrauterine growth retardation,Occasional (29-5%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,[PMID:22844132],y,y +GARD:0020605,Orphanet,231144,ORPHA:231144,19,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,[PMID:22844132],y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0003241,External genital hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0005484,Secondary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0030884,Gastrojejunal tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0100555,Asymmetric growth,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020606,Orphanet,231147,ORPHA:231147,20,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,"[PMID:18474587, PMID:27468965]",y,y +GARD:0020608,Orphanet,231242,ORPHA:231242,4,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020608,Orphanet,231242,ORPHA:231242,4,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020608,Orphanet,231242,ORPHA:231242,4,HP:0001935,Microcytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020608,Orphanet,231242,ORPHA:231242,4,HP:0011902,Abnormal hemoglobin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020609,Orphanet,231249,ORPHA:231249,4,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020609,Orphanet,231249,ORPHA:231249,4,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020609,Orphanet,231249,ORPHA:231249,4,HP:0003281,Increased circulating ferritin concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0020609,Orphanet,231249,ORPHA:231249,4,HP:0011902,Abnormal hemoglobin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020615,Orphanet,231445,ORPHA:231445,10,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,[PMID:28514704],y,y +GARD:0020615,Orphanet,231445,ORPHA:231445,10,HP:0002385,Paraparesis,Frequent (79-30%),TAS,,,,[PMID:28514704],y,y +GARD:0020615,Orphanet,231445,ORPHA:231445,10,HP:0002839,Urinary bladder sphincter dysfunction,Excluded (0%),TAS,,,,[PMID:28514704],y,y +GARD:0020615,Orphanet,231445,ORPHA:231445,10,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,[PMID:28514704],y,y +GARD:0020615,Orphanet,231445,ORPHA:231445,10,HP:0006858,Impaired distal proprioception,Frequent (79-30%),TAS,,,,[PMID:28514704],y,y +GARD:0020615,Orphanet,231445,ORPHA:231445,10,HP:0011096,Peripheral demyelination,Occasional (29-5%),TAS,,,,[PMID:28514704],y,y +GARD:0020615,Orphanet,231445,ORPHA:231445,10,HP:0011868,Sciatica,Frequent (79-30%),TAS,,,,[PMID:28514704],y,y +GARD:0020615,Orphanet,231445,ORPHA:231445,10,HP:0011948,Recurrent acute respiratory tract infection,Occasional (29-5%),TAS,,,,[PMID:28514704],y,y +GARD:0020615,Orphanet,231445,ORPHA:231445,10,HP:0012531,Pain,Frequent (79-30%),TAS,,,,[PMID:28514704],y,y +GARD:0020615,Orphanet,231445,ORPHA:231445,10,HP:0025459,Increased CSF/serum albumin ratio,Frequent (79-30%),TAS,,,,[PMID:28514704],y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0000822,Hypertension,Obligate (100%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0002900,Hypokalemia,Frequent (79-30%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0003081,Increased urinary potassium,Frequent (79-30%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0003351,Decreased circulating renin level,Obligate (100%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0008221,Adrenal hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0011740,Glucocortocoid-insensitive primary hyperaldosteronism,Obligate (100%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020620,Orphanet,231580,ORPHA:231580,15,HP:0200114,Metabolic alkalosis,Frequent (79-30%),TAS,,,,"[PMID:17180480, PMID:22958674, PMID:23158191, PMID:25695882, PMID:26934393, PMID:27036860]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0000822,Hypertension,Obligate (100%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0003081,Increased urinary potassium,Frequent (79-30%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0003118,Increased circulating cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0003351,Decreased circulating renin level,Very frequent (99-80%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0005135,Abnormal T-wave,Frequent (79-30%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0011740,Glucocortocoid-insensitive primary hyperaldosteronism,Very frequent (99-80%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0100631,Neoplasm of the adrenal gland,Obligate (100%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020621,Orphanet,231625,ORPHA:231625,18,HP:0200114,Metabolic alkalosis,Very frequent (99-80%),TAS,,,,"[PMID:11559548, PMID:20482833, PMID:21270113, PMID:24103295, PMID:24682757, PMID:26273475, PMID:8639013]",y,y +GARD:0020622,Orphanet,231632,ORPHA:231632,13,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,"[PMID:15657580, PMID:171276, PMID:2344975, PMID:26934393, PMID:27036860, PMID:3518689, PMID:8639013, PMID:8787960]",y,y +GARD:0020622,Orphanet,231632,ORPHA:231632,13,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:15657580, PMID:171276, PMID:2344975, PMID:26934393, PMID:27036860, PMID:3518689, PMID:8639013, PMID:8787960]",y,y +GARD:0020622,Orphanet,231632,ORPHA:231632,13,HP:0000822,Hypertension,Obligate (100%),TAS,,,,"[PMID:15657580, PMID:171276, PMID:2344975, PMID:26934393, PMID:27036860, PMID:3518689, PMID:8639013, PMID:8787960]",y,y +GARD:0020622,Orphanet,231632,ORPHA:231632,13,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:15657580, PMID:171276, PMID:2344975, PMID:26934393, PMID:27036860, PMID:3518689, PMID:8639013, PMID:8787960]",y,y +GARD:0020622,Orphanet,231632,ORPHA:231632,13,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:15657580, PMID:171276, PMID:2344975, PMID:26934393, PMID:27036860, PMID:3518689, PMID:8639013, PMID:8787960]",y,y +GARD:0020622,Orphanet,231632,ORPHA:231632,13,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:15657580, PMID:171276, PMID:2344975, PMID:26934393, PMID:27036860, PMID:3518689, PMID:8639013, PMID:8787960]",y,y +GARD:0020622,Orphanet,231632,ORPHA:231632,13,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,"[PMID:15657580, PMID:171276, PMID:2344975, PMID:26934393, PMID:27036860, PMID:3518689, PMID:8639013, PMID:8787960]",y,y +GARD:0020622,Orphanet,231632,ORPHA:231632,13,HP:0003351,Decreased circulating renin level,Obligate (100%),TAS,,,,"[PMID:15657580, PMID:171276, PMID:2344975, PMID:26934393, PMID:27036860, PMID:3518689, PMID:8639013, PMID:8787960]",y,y +GARD:0020622,Orphanet,231632,ORPHA:231632,13,HP:0006735,Renal cortical adenoma,Very frequent (99-80%),TAS,,,,"[PMID:15657580, PMID:171276, PMID:2344975, PMID:26934393, PMID:27036860, PMID:3518689, PMID:8639013, PMID:8787960]",y,y +GARD:0020622,Orphanet,231632,ORPHA:231632,13,HP:0008256,Adrenocortical adenoma,Excluded (0%),TAS,,,,"[PMID:15657580, PMID:171276, PMID:2344975, PMID:26934393, PMID:27036860, PMID:3518689, PMID:8639013, PMID:8787960]",y,y +GARD:0020622,Orphanet,231632,ORPHA:231632,13,HP:0011740,Glucocortocoid-insensitive primary hyperaldosteronism,Obligate (100%),TAS,,,,"[PMID:15657580, PMID:171276, PMID:2344975, PMID:26934393, PMID:27036860, PMID:3518689, PMID:8639013, PMID:8787960]",y,y +GARD:0020622,Orphanet,231632,ORPHA:231632,13,HP:0100615,Ovarian neoplasm,Very frequent (99-80%),TAS,,,,"[PMID:15657580, PMID:171276, PMID:2344975, PMID:26934393, PMID:27036860, PMID:3518689, PMID:8639013, PMID:8787960]",y,y +GARD:0020622,Orphanet,231632,ORPHA:231632,13,HP:0200114,Metabolic alkalosis,Frequent (79-30%),TAS,,,,"[PMID:15657580, PMID:171276, PMID:2344975, PMID:26934393, PMID:27036860, PMID:3518689, PMID:8639013, PMID:8787960]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0000511,Vertical supranuclear gaze palsy,Excluded (0%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0000570,Abnormal saccadic eye movements,Excluded (0%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0000571,Hypometric saccades,Very rare (<4-1%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0000643,Blepharospasm,Very rare (<4-1%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0000657,Oculomotor apraxia,Very rare (<4-1%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0001337,Tremor,Excluded (0%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0001621,Weak voice,Frequent (79-30%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0002063,Rigidity,Excluded (0%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0002067,Bradykinesia,Excluded (0%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0002068,Neuromuscular dysphagia,Excluded (0%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0002141,Gait imbalance,Frequent (79-30%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0002304,Akinesia,Obligate (100%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0002317,Unsteady gait,Very frequent (99-80%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0002527,Falls,Occasional (29-5%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0005329,Fixed facial expression,Frequent (79-30%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0006957,Loss of ability to walk,Occasional (29-5%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0007311,Short stepped shuffling gait,Occasional (29-5%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0031434,Abnormal speech prosody,Frequent (79-30%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0031814,Palilalia,Frequent (79-30%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0031825,Freezing of gait,Obligate (100%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0031908,Micrographia,Frequent (79-30%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020647,Orphanet,240094,ORPHA:240094,25,HP:0031937,Tachylalia,Frequent (79-30%),TAS,,,,"[PMID:27624121, PMID:28356654, PMID:29051824]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0000511,Vertical supranuclear gaze palsy,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0000514,Slow saccadic eye movements,Very frequent (99-80%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0000570,Abnormal saccadic eye movements,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0000743,Frontal release signs,Excluded (0%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0000751,Personality changes,Occasional (29-5%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0001188,Hand clenching,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0002067,Bradykinesia,Obligate (100%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0002098,Respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0002172,Postural instability,Very frequent (99-80%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0002186,Apraxia,Very frequent (99-80%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0002374,Diminished movement,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0002381,Aphasia,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0002548,Parkinsonism with favorable response to dopaminergic medication,Occasional (29-5%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0004373,Focal dystonia,Very frequent (99-80%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0006961,Jerky head movements,Occasional (29-5%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0007158,Progressive extrapyramidal muscular rigidity,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0007885,Slowed horizontal saccades,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0009088,Speech articulation difficulties,Occasional (29-5%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0030217,Limb apraxia,Very frequent (99-80%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020648,Orphanet,240103,ORPHA:240103,30,HP:0045084,Limb myoclonus,Frequent (79-30%),TAS,,,,"[PMID:15834857, PMID:23432126, PMID:28467028, PMID:30252354]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0000511,Vertical supranuclear gaze palsy,Occasional (29-5%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0002527,Falls,Occasional (29-5%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0002549,Deficit in phonologic short-term memory,Very frequent (99-80%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0006977,Grammar-specific speech disorder,Very frequent (99-80%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0007158,Progressive extrapyramidal muscular rigidity,Occasional (29-5%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0011098,Speech apraxia,Very frequent (99-80%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0025268,Stuttering,Very frequent (99-80%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0030217,Limb apraxia,Occasional (29-5%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0030391,Spoken word recognition deficit,Very frequent (99-80%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0030784,Anomic aphasia,Very frequent (99-80%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020649,Orphanet,240112,ORPHA:240112,21,HP:0031434,Abnormal speech prosody,Frequent (79-30%),TAS,,,,"[PMID:18989114, PMID:21614463, PMID:28653647, PMID:28803444]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0000020,Urinary incontinence,Very rare (<4-1%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0000338,Hypomimic face,Occasional (29-5%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0000496,Abnormality of eye movement,Very frequent (99-80%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0000608,Macular degeneration,Frequent (79-30%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0000640,Gaze-evoked nystagmus,Frequent (79-30%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0001291,Abnormal cranial nerve morphology,Occasional (29-5%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0002075,Dysdiadochokinesis,Occasional (29-5%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0002080,Intention tremor,Very rare (<4-1%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0002304,Akinesia,Occasional (29-5%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0002322,Resting tremor,Occasional (29-5%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0002362,Shuffling gait,Occasional (29-5%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0007670,Abnormal vestibulo-ocular reflex,Frequent (79-30%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0007772,Impaired smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0008278,Cerebellar cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020654,Orphanet,247234,ORPHA:247234,28,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:21827893, PMID:2341843, PMID:26517211]",y,y +GARD:0020657,Orphanet,247257,ORPHA:247257,12,HP:0000971,Abnormal sweat gland morphology,Very frequent (99-80%),TAS,,,,"[PMID:10559102, PMID:12396910]",y,y +GARD:0020657,Orphanet,247257,ORPHA:247257,12,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:10559102, PMID:12396910]",y,y +GARD:0020657,Orphanet,247257,ORPHA:247257,12,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:10559102, PMID:12396910]",y,y +GARD:0020657,Orphanet,247257,ORPHA:247257,12,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:10559102, PMID:12396910]",y,y +GARD:0020657,Orphanet,247257,ORPHA:247257,12,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:10559102, PMID:12396910]",y,y +GARD:0020657,Orphanet,247257,ORPHA:247257,12,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:10559102, PMID:12396910]",y,y +GARD:0020657,Orphanet,247257,ORPHA:247257,12,HP:0002546,Incomprehensible speech,Frequent (79-30%),TAS,,,,"[PMID:10559102, PMID:12396910]",y,y +GARD:0020657,Orphanet,247257,ORPHA:247257,12,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:10559102, PMID:12396910]",y,y +GARD:0020657,Orphanet,247257,ORPHA:247257,12,HP:0011029,Internal hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:10559102, PMID:12396910]",y,y +GARD:0020657,Orphanet,247257,ORPHA:247257,12,HP:0011159,Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena,Very frequent (99-80%),TAS,,,,"[PMID:10559102, PMID:12396910]",y,y +GARD:0020657,Orphanet,247257,ORPHA:247257,12,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:10559102, PMID:12396910]",y,y +GARD:0020657,Orphanet,247257,ORPHA:247257,12,HP:0100806,Sepsis,Frequent (79-30%),TAS,,,,"[PMID:10559102, PMID:12396910]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0000657,Oculomotor apraxia,Excluded (0%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0001263,Global developmental delay,Excluded (0%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0001761,Pes cavus,Very rare (<4-1%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0002457,Abnormal head movements,Occasional (29-5%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0007002,Motor axonal neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0007772,Impaired smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0008167,Very long chain fatty acid accumulation,Frequent (79-30%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0010965,Abnormal circulating phytanic acid concentration,Frequent (79-30%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0011499,Mydriasis,Occasional (29-5%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020666,Orphanet,247815,ORPHA:247815,19,HP:0100275,Diffuse cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:20695019, PMID:27230853, PMID:28320181, PMID:8982949]",y,y +GARD:0020687,Orphanet,250972,ORPHA:250972,14,HP:0000609,Optic nerve hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:19896110, PMID:30016746]",y,y +GARD:0020687,Orphanet,250972,ORPHA:250972,14,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:19896110, PMID:30016746]",y,y +GARD:0020687,Orphanet,250972,ORPHA:250972,14,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:19896110, PMID:30016746]",y,y +GARD:0020687,Orphanet,250972,ORPHA:250972,14,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,"[PMID:19896110, PMID:30016746]",y,y +GARD:0020687,Orphanet,250972,ORPHA:250972,14,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:19896110, PMID:30016746]",y,y +GARD:0020687,Orphanet,250972,ORPHA:250972,14,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:19896110, PMID:30016746]",y,y +GARD:0020687,Orphanet,250972,ORPHA:250972,14,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,"[PMID:19896110, PMID:30016746]",y,y +GARD:0020687,Orphanet,250972,ORPHA:250972,14,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:19896110, PMID:30016746]",y,y +GARD:0020687,Orphanet,250972,ORPHA:250972,14,HP:0002126,Polymicrogyria,Very frequent (99-80%),TAS,,,,"[PMID:19896110, PMID:30016746]",y,y +GARD:0020687,Orphanet,250972,ORPHA:250972,14,HP:0002365,Hypoplasia of the brainstem,Occasional (29-5%),TAS,,,,"[PMID:19896110, PMID:30016746]",y,y +GARD:0020687,Orphanet,250972,ORPHA:250972,14,HP:0006989,Dysplastic corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:19896110, PMID:30016746]",y,y +GARD:0020687,Orphanet,250972,ORPHA:250972,14,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:19896110, PMID:30016746]",y,y +GARD:0020687,Orphanet,250972,ORPHA:250972,14,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:19896110, PMID:30016746]",y,y +GARD:0020687,Orphanet,250972,ORPHA:250972,14,HP:0030048,Colpocephaly,Very frequent (99-80%),TAS,,,,"[PMID:19896110, PMID:30016746]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0000105,Enlarged kidney,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0000793,Membranoproliferative glomerulonephritis,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0000970,Anhidrosis,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0003072,Hypercalcemia,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0003138,Increased blood urea nitrogen,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0004802,Episodic hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0007021,Pain insensitivity,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0007272,Progressive psychomotor deterioration,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0007641,Dyschromatopsia,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0007754,Macular dystrophy,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0012444,Brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0012587,Macroscopic hematuria,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020688,Orphanet,251004,ORPHA:251004,29,HP:0030612,Abnormal retinal morphology on macular OCT,Frequent (79-30%),TAS,,,,"[PMID:10951251, PMID:11071380, PMID:15663509, PMID:17277736, PMID:21270828, PMID:23275530, PMID:24334170, PMID:26846731]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0000954,Single transverse palmar crease,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0001476,Delayed closure of the anterior fontanelle,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0001876,Pancytopenia,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0001883,Talipes,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0002191,Progressive spasticity,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0002813,Abnormality of limb bone morphology,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0003139,Panhypogammaglobulinemia,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0007272,Progressive psychomotor deterioration,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0009909,Uplifted earlobe,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0010655,Epiphyseal stippling,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020689,Orphanet,251009,ORPHA:251009,29,HP:0100651,Type I diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:17702006, PMID:20583171, PMID:22689986, PMID:23684670, PMID:9326326, PMID:9758608]",y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000243,Trigonocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000275,Narrow face,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000588,Optic disc coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000589,Coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0001595,Abnormal hair morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0002002,Deep philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0002463,Language impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0002991,Abnormality of fibula morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0002992,Abnormality of tibia morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0002997,Abnormality of the ulna,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0005487,Prominent metopic ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0010059,Broad hallux phalanx,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0100257,Ectrodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0020690,Orphanet,251014,ORPHA:251014,63,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0000078,Abnormality of the genital system,Occasional (29-5%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0001582,Redundant skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0012639,Abnormal nervous system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0020691,Orphanet,251046,ORPHA:251046,21,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000027,Azoospermia,Frequent (79-30%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000458,Anosmia,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000556,Retinal dystrophy,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Very frequent (99-80%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0001878,Hemolytic anemia,Very frequent (99-80%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0004444,Spherocytosis,Very frequent (99-80%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0004467,Preauricular pit,Frequent (79-30%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0005815,Supernumerary ribs,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0008572,External ear malformation,Frequent (79-30%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,[PMID:11920837],y,y +GARD:0020693,Orphanet,251066,ORPHA:251066,36,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,[PMID:11920837],y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0000044,Hypogonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0000141,Amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0000802,Impotence,Occasional (29-5%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0000863,Central diabetes insipidus,Very rare (<4-1%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0000870,Increased circulating prolactin concentration,Occasional (29-5%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0001123,Visual field defect,Frequent (79-30%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0008214,Decreased serum estradiol,Occasional (29-5%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0008245,Pituitary hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0011043,Abnormality of circulating adrenocorticotropin level,Occasional (29-5%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0011752,Neoplasm of the posterior pituitary,Obligate (100%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0011754,Pituicytoma,Obligate (100%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0012503,Abnormality of the pituitary gland,Very frequent (99-80%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0030018,Decreased female libido,Occasional (29-5%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0040075,Hypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0040171,Decreased serum testosterone concentration,Occasional (29-5%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020711,Orphanet,251623,ORPHA:251623,20,HP:0100829,Galactorrhea,Very rare (<4-1%),TAS,,,,"[PMID:10716149, PMID:19525896, PMID:20586639, PMID:21960498, PMID:23237862, PMID:23701182, PMID:23887161, PMID:25947224]",y,y +GARD:0020725,Orphanet,251915,ORPHA:251915,14,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,"[PMID:10668895, PMID:17021405, PMID:17598824, PMID:1919667327, PMID:20136388, PMID:329860, PMID:6986979]",y,y +GARD:0020725,Orphanet,251915,ORPHA:251915,14,HP:0000364,Hearing abnormality,Occasional (29-5%),TAS,,,,"[PMID:10668895, PMID:17021405, PMID:17598824, PMID:1919667327, PMID:20136388, PMID:329860, PMID:6986979]",y,y +GARD:0020725,Orphanet,251915,ORPHA:251915,14,HP:0000492,Abnormal eyelid morphology,Frequent (79-30%),TAS,,,,"[PMID:10668895, PMID:17021405, PMID:17598824, PMID:1919667327, PMID:20136388, PMID:329860, PMID:6986979]",y,y +GARD:0020725,Orphanet,251915,ORPHA:251915,14,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:10668895, PMID:17021405, PMID:17598824, PMID:1919667327, PMID:20136388, PMID:329860, PMID:6986979]",y,y +GARD:0020725,Orphanet,251915,ORPHA:251915,14,HP:0000651,Diplopia,Very frequent (99-80%),TAS,,,,"[PMID:10668895, PMID:17021405, PMID:17598824, PMID:1919667327, PMID:20136388, PMID:329860, PMID:6986979]",y,y +GARD:0020725,Orphanet,251915,ORPHA:251915,14,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,"[PMID:10668895, PMID:17021405, PMID:17598824, PMID:1919667327, PMID:20136388, PMID:329860, PMID:6986979]",y,y +GARD:0020725,Orphanet,251915,ORPHA:251915,14,HP:0002131,Episodic ataxia,Frequent (79-30%),TAS,,,,"[PMID:10668895, PMID:17021405, PMID:17598824, PMID:1919667327, PMID:20136388, PMID:329860, PMID:6986979]",y,y +GARD:0020725,Orphanet,251915,ORPHA:251915,14,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:10668895, PMID:17021405, PMID:17598824, PMID:1919667327, PMID:20136388, PMID:329860, PMID:6986979]",y,y +GARD:0020725,Orphanet,251915,ORPHA:251915,14,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,"[PMID:10668895, PMID:17021405, PMID:17598824, PMID:1919667327, PMID:20136388, PMID:329860, PMID:6986979]",y,y +GARD:0020725,Orphanet,251915,ORPHA:251915,14,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:10668895, PMID:17021405, PMID:17598824, PMID:1919667327, PMID:20136388, PMID:329860, PMID:6986979]",y,y +GARD:0020725,Orphanet,251915,ORPHA:251915,14,HP:0002516,Increased intracranial pressure,Very frequent (99-80%),TAS,,,,"[PMID:10668895, PMID:17021405, PMID:17598824, PMID:1919667327, PMID:20136388, PMID:329860, PMID:6986979]",y,y +GARD:0020725,Orphanet,251915,ORPHA:251915,14,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:10668895, PMID:17021405, PMID:17598824, PMID:1919667327, PMID:20136388, PMID:329860, PMID:6986979]",y,y +GARD:0020725,Orphanet,251915,ORPHA:251915,14,HP:0030531,Altitudinal visual field defect,Frequent (79-30%),TAS,,,,"[PMID:10668895, PMID:17021405, PMID:17598824, PMID:1919667327, PMID:20136388, PMID:329860, PMID:6986979]",y,y +GARD:0020725,Orphanet,251915,ORPHA:251915,14,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:10668895, PMID:17021405, PMID:17598824, PMID:1919667327, PMID:20136388, PMID:329860, PMID:6986979]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0000315,Abnormality of the orbital region,Very rare (<4-1%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0000834,Abnormality of the adrenal glands,Frequent (79-30%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0002034,Abnormal rectum morphology,Very rare (<4-1%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0002239,Gastrointestinal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0002574,Episodic abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0003005,Ganglioneuroma,Obligate (100%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0003330,Abnormal bone structure,Very rare (<4-1%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0004390,Hamartomatous polyposis,Occasional (29-5%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0005220,Multiple intestinal neurofibromatosis,Frequent (79-30%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0005249,Functional intestinal obstruction,Occasional (29-5%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0007110,Central hypoventilation,Very rare (<4-1%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0008775,Abnormal prostate morphology,Very rare (<4-1%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0045026,Abnormality of the mediastinum,Frequent (79-30%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0100631,Neoplasm of the adrenal gland,Occasional (29-5%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020731,Orphanet,251992,ORPHA:251992,16,HP:0200063,Colorectal polyposis,Frequent (79-30%),TAS,,,,"[PMID:10421273, PMID:10565651, PMID:1577976, PMID:15827098, PMID:17090203, PMID:17404862, PMID:17936435, PMID:19204248, PMID:19738538, PMID:20427489, PMID:20452635, PMID:26122142, PMID:2752827, PMID:2917322, PMID:8080368, PMID:8344115]",y,y +GARD:0020746,Orphanet,254504,ORPHA:254504,13,HP:0000016,Urinary retention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020746,Orphanet,254504,ORPHA:254504,13,HP:0000217,Xerostomia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020746,Orphanet,254504,ORPHA:254504,13,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020746,Orphanet,254504,ORPHA:254504,13,HP:0000651,Diplopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020746,Orphanet,254504,ORPHA:254504,13,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020746,Orphanet,254504,ORPHA:254504,13,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0020746,Orphanet,254504,ORPHA:254504,13,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0020746,Orphanet,254504,ORPHA:254504,13,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020746,Orphanet,254504,ORPHA:254504,13,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0020746,Orphanet,254504,ORPHA:254504,13,HP:0003470,Paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020746,Orphanet,254504,ORPHA:254504,13,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020746,Orphanet,254504,ORPHA:254504,13,HP:0011499,Mydriasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020746,Orphanet,254504,ORPHA:254504,13,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020747,Orphanet,254509,ORPHA:254509,13,HP:0000016,Urinary retention,Frequent (79-30%),TAS,,,,,y,y +GARD:0020747,Orphanet,254509,ORPHA:254509,13,HP:0000217,Xerostomia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020747,Orphanet,254509,ORPHA:254509,13,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020747,Orphanet,254509,ORPHA:254509,13,HP:0001278,Orthostatic hypotension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020747,Orphanet,254509,ORPHA:254509,13,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020747,Orphanet,254509,ORPHA:254509,13,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020747,Orphanet,254509,ORPHA:254509,13,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0020747,Orphanet,254509,ORPHA:254509,13,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0020747,Orphanet,254509,ORPHA:254509,13,HP:0006597,Diaphragmatic paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020747,Orphanet,254509,ORPHA:254509,13,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020747,Orphanet,254509,ORPHA:254509,13,HP:0011499,Mydriasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020747,Orphanet,254509,ORPHA:254509,13,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020747,Orphanet,254509,ORPHA:254509,13,HP:0100021,Cerebral palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020751,Orphanet,254704,ORPHA:254704,8,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:19176363, PMID:28052375, PMID:7492760, PMID:7493028, PMID:9378401]",y,y +GARD:0020751,Orphanet,254704,ORPHA:254704,8,HP:0001808,Fragile nails,Occasional (29-5%),TAS,,,,"[PMID:19176363, PMID:28052375, PMID:7492760, PMID:7493028, PMID:9378401]",y,y +GARD:0020751,Orphanet,254704,ORPHA:254704,8,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:19176363, PMID:28052375, PMID:7492760, PMID:7493028, PMID:9378401]",y,y +GARD:0020751,Orphanet,254704,ORPHA:254704,8,HP:0003281,Increased circulating ferritin concentration,Obligate (100%),TAS,,,,"[PMID:19176363, PMID:28052375, PMID:7492760, PMID:7493028, PMID:9378401]",y,y +GARD:0020751,Orphanet,254704,ORPHA:254704,8,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:19176363, PMID:28052375, PMID:7492760, PMID:7493028, PMID:9378401]",y,y +GARD:0020751,Orphanet,254704,ORPHA:254704,8,HP:0012465,Elevated hepatic iron concentration,Excluded (0%),TAS,,,,"[PMID:19176363, PMID:28052375, PMID:7492760, PMID:7493028, PMID:9378401]",y,y +GARD:0020751,Orphanet,254704,ORPHA:254704,8,HP:0040130,Abnormal serum iron concentration,Excluded (0%),TAS,,,,"[PMID:19176363, PMID:28052375, PMID:7492760, PMID:7493028, PMID:9378401]",y,y +GARD:0020751,Orphanet,254704,ORPHA:254704,8,HP:0040135,Abnormal transferrin saturation,Excluded (0%),TAS,,,,"[PMID:19176363, PMID:28052375, PMID:7492760, PMID:7493028, PMID:9378401]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0000590,Progressive external ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0000651,Diplopia,Very rare (<4-1%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0001252,Hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0001270,Motor delay,Very rare (<4-1%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0001488,Bilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0002600,Hyporeflexia of lower limbs,Frequent (79-30%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0003201,Rhabdomyolysis,Very rare (<4-1%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0003327,Axial muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0003391,Gowers sign,Frequent (79-30%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0003546,Exercise intolerance,Very frequent (99-80%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0003547,Shoulder girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0003551,Difficulty climbing stairs,Very frequent (99-80%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0003652,Recurrent myoglobinuria,Very rare (<4-1%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0003691,Scapular winging,Very rare (<4-1%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0003701,Proximal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0003722,Neck flexor weakness,Frequent (79-30%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0003731,Quadriceps muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0003749,Pelvic girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0006957,Loss of ability to walk,Occasional (29-5%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0007126,Proximal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0009020,Exercise-induced muscle fatigue,Frequent (79-30%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0009046,Difficulty running,Very frequent (99-80%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0030192,Fatigable weakness of bulbar muscles,Occasional (29-5%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0030195,Fatigable weakness of swallowing muscles,Occasional (29-5%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020768,Orphanet,254854,ORPHA:254854,33,HP:0030199,Fatigable weakness of neck muscles,Frequent (79-30%),TAS,,,,"[PMID:1571086, PMID:1589382, PMID:17825557, PMID:17951082, PMID:23911206, PMID:9003864]",y,y +GARD:0020770,Orphanet,261102,ORPHA:261102,14,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:25428557, PMID:26109321]",y,y +GARD:0020770,Orphanet,261102,ORPHA:261102,14,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:25428557, PMID:26109321]",y,y +GARD:0020770,Orphanet,261102,ORPHA:261102,14,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:25428557, PMID:26109321]",y,y +GARD:0020770,Orphanet,261102,ORPHA:261102,14,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:25428557, PMID:26109321]",y,y +GARD:0020770,Orphanet,261102,ORPHA:261102,14,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:25428557, PMID:26109321]",y,y +GARD:0020770,Orphanet,261102,ORPHA:261102,14,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,"[PMID:25428557, PMID:26109321]",y,y +GARD:0020770,Orphanet,261102,ORPHA:261102,14,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:25428557, PMID:26109321]",y,y +GARD:0020770,Orphanet,261102,ORPHA:261102,14,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:25428557, PMID:26109321]",y,y +GARD:0020770,Orphanet,261102,ORPHA:261102,14,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:25428557, PMID:26109321]",y,y +GARD:0020770,Orphanet,261102,ORPHA:261102,14,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,"[PMID:25428557, PMID:26109321]",y,y +GARD:0020770,Orphanet,261102,ORPHA:261102,14,HP:0004942,Aortic aneurysm,Very frequent (99-80%),TAS,,,,"[PMID:25428557, PMID:26109321]",y,y +GARD:0020770,Orphanet,261102,ORPHA:261102,14,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:25428557, PMID:26109321]",y,y +GARD:0020770,Orphanet,261102,ORPHA:261102,14,HP:0007330,Frontal encephalocele,Occasional (29-5%),TAS,,,,"[PMID:25428557, PMID:26109321]",y,y +GARD:0020770,Orphanet,261102,ORPHA:261102,14,HP:0100835,Benign neoplasm of the central nervous system,Occasional (29-5%),TAS,,,,"[PMID:25428557, PMID:26109321]",y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0000733,Motor stereotypy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0003781,Excessive salivation,Frequent (79-30%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0005487,Prominent metopic ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0010804,Tented upper lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020771,Orphanet,261144,ORPHA:261144,29,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0020772,Orphanet,261204,ORPHA:261204,14,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0020772,Orphanet,261204,ORPHA:261204,14,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0020772,Orphanet,261204,ORPHA:261204,14,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020772,Orphanet,261204,ORPHA:261204,14,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020772,Orphanet,261204,ORPHA:261204,14,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020772,Orphanet,261204,ORPHA:261204,14,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0020772,Orphanet,261204,ORPHA:261204,14,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0020772,Orphanet,261204,ORPHA:261204,14,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0020772,Orphanet,261204,ORPHA:261204,14,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0020772,Orphanet,261204,ORPHA:261204,14,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0020772,Orphanet,261204,ORPHA:261204,14,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020772,Orphanet,261204,ORPHA:261204,14,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0020772,Orphanet,261204,ORPHA:261204,14,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0020772,Orphanet,261204,ORPHA:261204,14,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000204,Cleft upper lip,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000413,Atresia of the external auditory canal,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0002263,Exaggerated cupid's bow,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0009914,Cyclopia,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0010508,Metatarsus valgus,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020774,Orphanet,261236,ORPHA:261236,40,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,[PMID:21315189],y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0001161,Hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0001669,Transposition of the great arteries,Occasional (29-5%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0002463,Language impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0020775,Orphanet,261243,ORPHA:261243,19,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0001010,Hypopigmentation of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0010781,Skin dimple,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0011343,Moderate global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020777,Orphanet,261304,ORPHA:261304,24,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000297,Facial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000460,Narrow nose,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0001713,Abnormal cardiac ventricle morphology,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0002188,Delayed CNS myelination,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0002573,Hematochezia,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0002813,Abnormality of limb bone morphology,Very frequent (99-80%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0006385,Short lower limbs,Frequent (79-30%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0006709,Aplasia/Hypoplasia of the nipples,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0009899,Prominent crus of helix,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0012304,Hypoplastic aortic arch,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0012520,Dilation of Virchow-Robin spaces,Very frequent (99-80%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020778,Orphanet,261311,ORPHA:261311,43,HP:0012858,Decreased scrotal rugation,Occasional (29-5%),TAS,,,,"[PMID:20805988, PMID:26030193]",y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000179,Thick lower lip vermilion,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000311,Round face,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0001106,Periorbital hyperpigmentation,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0001792,Small nail,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0002557,Hypoplastic nipples,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0003086,Acromesomelia,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0003763,Bruxism,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0006979,Sleep-wake cycle disturbance,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0007874,Almond-shaped palpebral fissure,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0008404,Nail dystrophy,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0009226,Short proximal phalanx of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0009597,Short proximal phalanx of the 2nd finger,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0010230,Cone-shaped epiphyses of the phalanges of the hand,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0012172,Stereotypical body rocking,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0012385,Camptodactyly,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0012745,Short palpebral fissure,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0030215,Inappropriate crying,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0030799,Scaphocephaly,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0100703,Tongue thrusting,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020779,Orphanet,261323,ORPHA:261323,59,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,[PMID:20578134],y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000457,Depressed nasal ridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000588,Optic disc coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0001704,Tricuspid valve prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0001836,Camptodactyly of toe,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0004422,Biparietal narrowing,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0009738,Abnormal antihelix morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0009795,Branchial fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0011039,Abnormal helix morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0020780,Orphanet,261337,ORPHA:261337,57,HP:0100540,Palpebral edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000046,Small scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000308,Microretrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000356,Abnormality of the outer ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000476,Cystic hygroma,Frequent (79-30%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000528,Anophthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0001833,Long foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0008386,Aplasia/Hypoplasia of the nails,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0008676,Congenital megaureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0010306,Short thorax,Occasional (29-5%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0010880,Increased nuchal translucency,Frequent (79-30%),TAS,,,,,y,y +GARD:0020781,Orphanet,261344,ORPHA:261344,42,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0000027,Azoospermia,Frequent (79-30%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0000914,Shield chest,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0001010,Hypopigmentation of the skin,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0001399,Hepatic failure,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0001635,Congestive heart failure,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0001838,Rocker bottom foot,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0002967,Cubitus valgus,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0003186,Inverted nipples,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0003248,Gonadal tissue inappropriate for external genitalia or chromosomal sex,Frequent (79-30%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0003550,Predominantly lower limb lymphedema,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0008193,Primary gonadal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020783,Orphanet,261519,ORPHA:261519,26,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,"[PMID:24434812, PMID:26043854, PMID:2893543, PMID:8362910, PMID:8540683, PMID:8554052, PMID:8981959]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0000789,Infertility,Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0000914,Shield chest,Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0002967,Cubitus valgus,Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0011343,Moderate global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020784,Orphanet,261524,ORPHA:261524,18,HP:0100853,Hypoplastic areola,Very frequent (99-80%),TAS,,,,"[PMID:11950856, PMID:14688173, PMID:15957160, PMID:20720308, PMID:8281147, PMID:8370585]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0000026,Male hypogonadism,Very frequent (99-80%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0000027,Azoospermia,Very frequent (99-80%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0000033,"Ambiguous genitalia, male",Frequent (79-30%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0000051,Perineal hypospadias,Occasional (29-5%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0000061,"Ambiguous genitalia, female",Frequent (79-30%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0000133,Gonadal dysgenesis,Frequent (79-30%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0000150,Gonadoblastoma,Occasional (29-5%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0003251,Male infertility,Very frequent (99-80%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0008222,Female infertility,Very frequent (99-80%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0008669,Abnormal spermatogenesis,Very frequent (99-80%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0010460,Abnormality of the female genitalia,Frequent (79-30%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0010461,Abnormality of the male genitalia,Frequent (79-30%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0010464,Streak ovary,Occasional (29-5%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0012741,Unilateral cryptorchidism,Frequent (79-30%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020785,Orphanet,261529,ORPHA:261529,22,HP:0100779,Urogenital sinus anomaly,Frequent (79-30%),TAS,,,,"[ISBN-13:978-3110116076, PMID:10424817, PMID:16359976, PMID:18555994, PMID:24052714, PMID:25381945, PMID:649173, PMID:965013]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0000077,Abnormality of the kidney,Very rare (<4-1%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0000215,Thick upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0001115,Posterior polar cataract,Occasional (29-5%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0001891,Iron deficiency anemia,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0002064,Spastic gait,Occasional (29-5%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0002234,Early balding,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0002584,Intestinal bleeding,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0002884,Hepatoblastoma,Very rare (<4-1%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0003003,Colon cancer,Occasional (29-5%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0004482,Relative macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0004783,Duodenal polyposis,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0005227,Adenomatous colonic polyposis,Very frequent (99-80%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0006536,Airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0007649,Congenital hypertrophy of retinal pigment epithelium,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0007766,Optic disc hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0010522,Dyslexia,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0011078,Abnormality of canine,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0100245,Desmoid tumors,Occasional (29-5%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0100246,Osteoma,Very rare (<4-1%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020786,Orphanet,261584,ORPHA:261584,35,HP:0200040,Epidermoid cyst,Frequent (79-30%),TAS,,,,"[PMID:1313112, PMID:1315124, PMID:20931355, PMID:2193168, PMID:22525412, PMID:22825279, PMID:2537430, PMID:25955461]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0000350,Small forehead,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0000402,Stenosis of the external auditory canal,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0000475,Broad neck,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0000599,Abnormality of the frontal hairline,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0001837,Broad toe,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0002332,Lack of peer relationships,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0002474,Expressive language delay,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0003502,Mild short stature,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0003799,Marked delay in bone age,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0004220,Short middle phalanx of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0004482,Relative macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0005793,Shortening of all distal phalanges of the toes,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0007477,Abnormal dermatoglyphics,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0008394,Congenital onychodystrophy,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0008689,Bilateral cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0009101,Submucous cleft lip,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0009246,Aplasia of the distal phalanx of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0009600,Flexion contracture of thumb,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0010773,Partial anomalous pulmonary venous return,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0011342,Mild global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0011648,Patent ductus arteriosus after birth at term,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0030031,Small toe,Frequent (79-30%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0100034,Motor tics,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020811,Orphanet,261911,ORPHA:261911,46,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,"[PMID:21344639, PMID:22631585, PMID:27384521, PMID:28387648]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0001274,Agenesis of corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0001305,Dandy-Walker malformation,Very rare (<4-1%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0001837,Broad toe,Frequent (79-30%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0002079,Hypoplasia of the corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0004474,Persistent open anterior fontanelle,Frequent (79-30%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0007560,Unusual dermatoglyphics,Frequent (79-30%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0008386,Aplasia/Hypoplasia of the nails,Frequent (79-30%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020866,Orphanet,262767,ORPHA:262767,16,HP:0009748,Large earlobe,Frequent (79-30%),TAS,,,,"[PMID:17515299, PMID:21823024, PMID:25365851, PMID:26689153, PMID:422206, PMID:58062]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0000711,Restlessness,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0002134,Abnormality of the basal ganglia,Very frequent (99-80%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0002273,Tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0002329,Drowsiness,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0002510,Spastic tetraplegia,Occasional (29-5%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0007105,Infantile encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0007185,Loss of consciousness,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0012697,Small basal ganglia,Very frequent (99-80%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0012747,Abnormal brainstem MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020899,Orphanet,263410,ORPHA:263410,25,HP:0030215,Inappropriate crying,Frequent (79-30%),TAS,,,,"[PMID:23742248, PMID:30054086]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0000713,Agitation,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0000825,Hyperinsulinemic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0001259,Coma,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0001337,Tremor,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0001520,Large for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0001649,Tachycardia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0001985,Hypoketotic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0001994,Renal Fanconi syndrome,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0001998,Neonatal hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0002329,Drowsiness,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0002344,Progressive neurologic deterioration,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0003076,Glycosuria,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0003162,Fasting hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0004324,Increased body weight,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0004359,Abnormal circulating fatty-acid concentration,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0004510,Pancreatic islet-cell hyperplasia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0004912,Hypophosphatemic rickets,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0005979,Metabolic ketoacidosis,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0006568,Increased hepatic glycogen content,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020903,Orphanet,263455,ORPHA:263455,33,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:22802087]",y,y +GARD:0020905,Orphanet,263665,ORPHA:263665,14,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,[PMID:20966166],y,y +GARD:0020905,Orphanet,263665,ORPHA:263665,14,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,[PMID:20966166],y,y +GARD:0020905,Orphanet,263665,ORPHA:263665,14,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,[PMID:20966166],y,y +GARD:0020905,Orphanet,263665,ORPHA:263665,14,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,[PMID:20966166],y,y +GARD:0020905,Orphanet,263665,ORPHA:263665,14,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,[PMID:20966166],y,y +GARD:0020905,Orphanet,263665,ORPHA:263665,14,HP:0002253,Colonic diverticula,Occasional (29-5%),TAS,,,,[PMID:20966166],y,y +GARD:0020905,Orphanet,263665,ORPHA:263665,14,HP:0002573,Hematochezia,Occasional (29-5%),TAS,,,,[PMID:20966166],y,y +GARD:0020905,Orphanet,263665,ORPHA:263665,14,HP:0002588,Duodenal ulcer,Occasional (29-5%),TAS,,,,[PMID:20966166],y,y +GARD:0020905,Orphanet,263665,ORPHA:263665,14,HP:0002592,Gastric ulcer,Occasional (29-5%),TAS,,,,[PMID:20966166],y,y +GARD:0020905,Orphanet,263665,ORPHA:263665,14,HP:0004295,Abnormal gastric mucosa morphology,Occasional (29-5%),TAS,,,,[PMID:20966166],y,y +GARD:0020905,Orphanet,263665,ORPHA:263665,14,HP:0005266,Intestinal polyp,Occasional (29-5%),TAS,,,,[PMID:20966166],y,y +GARD:0020905,Orphanet,263665,ORPHA:263665,14,HP:0005523,Lymphoproliferative disorder,Very frequent (99-80%),TAS,,,,[PMID:20966166],y,y +GARD:0020905,Orphanet,263665,ORPHA:263665,14,HP:0012425,Stercoral ulcer,Occasional (29-5%),TAS,,,,[PMID:20966166],y,y +GARD:0020905,Orphanet,263665,ORPHA:263665,14,HP:0100828,Increased T cell count,Very frequent (99-80%),TAS,,,,[PMID:20966166],y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000121,Nephrocalcinosis,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000483,Astigmatism,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000633,Decreased lacrimation,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000954,Single transverse palmar crease,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0000960,Sacral dimple,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0001100,Heterochromia iridis,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0001711,Abnormal left ventricle morphology,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0001734,Annular pancreas,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0001845,Overlapping toe,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0001864,Clinodactyly of the 5th toe,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0002101,Abnormal lung lobation,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0003006,Neuroblastoma,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0004689,Short fourth metatarsal,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0004704,Short fifth metatarsal,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0004794,Malrotation of small bowel,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0004969,Peripheral pulmonary artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0005176,Dysplastic aortic valve,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0005495,Metopic suture patent to nasal root,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0006801,Hyperactive deep tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0008609,Morphological abnormality of the middle ear,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0009913,Aplasia/Hypoplasia of the tragus,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0010034,Short 1st metacarpal,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0010945,Fetal pyelectasis,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0011466,Aplasia/Hypoplasia of the gallbladder,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0011546,Abnormal atrioventricular connection,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0011918,Clinodactyly of the 4th toe,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0011939,3-4 finger cutaneous syndactyly,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0040018,Clinodactyly of hallux,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0040022,Clinodactyly of the 2nd finger,Frequent (79-30%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020920,Orphanet,264450,ORPHA:264450,65,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,"[PMID:1126055, PMID:19041960, PMID:2267231, PMID:527246, PMID:6982667, PMID:7211950]",y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0000625,Eyelid coloboma,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0001829,Foot polydactyly,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0002006,Facial cleft,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0002779,Tracheomalacia,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0008437,Bifid thoracic vertebrae,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0009892,Anotia,Very frequent (99-80%),TAS,,,,[PMID:19491002],y,y +GARD:0020946,Orphanet,268249,ORPHA:268249,28,HP:0011803,Bifid nose,Occasional (29-5%),TAS,,,,[PMID:19491002],y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000041,Chordee,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000049,Shawl scrotum,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000054,Micropenis,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000185,Cleft soft palate,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000483,Astigmatism,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000541,Retinal detachment,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000612,Iris coloboma,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000687,Widely spaced teeth,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000818,Abnormality of the endocrine system,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000824,Decreased response to growth hormone stimulation test,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0000960,Sacral dimple,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001256,"Intellectual disability, mild",Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001641,Abnormal pulmonary valve morphology,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001650,Aortic valve stenosis,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001659,Aortic regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001780,Abnormality of toe,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002171,Gliosis,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002365,Hypoplasia of the brainstem,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0003429,CNS hypomyelination,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0005768,2-4 toe cutaneous syndactyly,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0010314,Premature thelarche,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0010442,Polydactyly,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0010946,Dilatation of the renal pelvis,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0011069,Supernumerary tooth,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0011147,Typical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0011757,Posterior pituitary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0011822,Broad chin,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0011917,Short 5th toe,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0012171,Stereotypical hand wringing,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0025163,Abnormality of optic chiasm morphology,Occasional (29-5%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0040188,Osteochondrosis,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0100783,Breast aplasia,Very rare (<4-1%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020947,Orphanet,268261,ORPHA:268261,97,HP:0410263,Brain imaging abnormality,Very frequent (99-80%),TAS,,,,"[PMID:25944381, PMID:26677511, PMID:31263215]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0000805,Enuresis,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0002144,Tethered cord,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0002375,Hypokinesia,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0002395,Lower limb hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0002435,Meningocele,Very frequent (99-80%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0002436,Occipital meningocele,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0003438,Absent Achilles reflex,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0005986,Limitation of neck motion,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0006986,Upper limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0008467,Thoracic hemivertebrae,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0010550,Paraplegia,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0025480,Lipomyelomeningocele,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0040194,Increased head circumference,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0045005,Neural tube defect,Very frequent (99-80%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020965,Orphanet,268810,ORPHA:268810,21,HP:0100565,Hydromyelia,Occasional (29-5%),TAS,,,,"[PMID:20464651, PMID:2072156, PMID:3652068]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0001312,Giant somatosensory evoked potentials,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0001335,Bimanual synkinesia,Very rare (<4-1%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0002510,Spastic tetraplegia,Frequent (79-30%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0002533,Abnormal posturing,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0002539,Cortical dysplasia,Frequent (79-30%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0006548,Pulmonary arteriovenous malformation,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0007024,Pseudobulbar paralysis,Frequent (79-30%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0008610,Infantile sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0010818,Generalized tonic seizure,Frequent (79-30%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0012389,Appendicular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0012650,Perisylvian polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020980,Orphanet,268943,ORPHA:268943,37,HP:0040288,Nasogastric tube feeding,Very rare (<4-1%),TAS,,,,"[PMID:11376999, PMID:15626537, PMID:20198472, PMID:20403963, PMID:26094545, PMID:28300030, PMID:29059488, PMID:30584075]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0000758,Abnormal nonverbal communicative behavior,Occasional (29-5%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0001269,Hemiparesis,Very frequent (99-80%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0001335,Bimanual synkinesia,Occasional (29-5%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0002539,Cortical dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0007229,Intracerebral periventricular calcifications,Occasional (29-5%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0007334,Bilateral tonic-clonic seizure with focal onset,Frequent (79-30%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0007377,Abnormality of somatosensory evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0011099,Spastic hemiparesis,Very frequent (99-80%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0011153,Focal motor seizure,Very frequent (99-80%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0011171,Simple febrile seizure,Occasional (29-5%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0012014,EEG with central focal spikes,Occasional (29-5%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0012015,EEG with frontal focal spikes,Frequent (79-30%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0012016,EEG with occipital focal spikes,Occasional (29-5%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0012017,EEG with parietal focal spikes,Occasional (29-5%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0012018,EEG with temporal focal spikes,Frequent (79-30%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0020981,Orphanet,268947,ORPHA:268947,29,HP:0100308,Cerebral cortical hemiatrophy,Very frequent (99-80%),TAS,,,,"[PMID:15626537, PMID:17307715, PMID:24184770]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0001279,Syncope,Frequent (79-30%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0001667,Right ventricular hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0001785,Ankle swelling,Frequent (79-30%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0002092,Pulmonary arterial hypertension,Very frequent (99-80%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0002094,Dyspnea,Obligate (100%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0003549,Abnormality of connective tissue,Excluded (0%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0004870,Chronic hemolytic anemia,Excluded (0%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0004890,Elevated pulmonary artery pressure,Very frequent (99-80%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0005180,Tricuspid regurgitation,Frequent (79-30%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0005317,Increased pulmonary vascular resistance,Very frequent (99-80%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0012098,Edema of the dorsum of feet,Frequent (79-30%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021025,Orphanet,275766,ORPHA:275766,18,HP:3000042,Abnormal jugular vein morphology,Very frequent (99-80%),TAS,,,,"[PMID:13396080, PMID:25469067, PMID:27390285, PMID:27888398]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0000011,Neurogenic bladder,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0000590,Progressive external ophthalmoplegia,Very frequent (99-80%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0000623,Supranuclear ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0000640,Gaze-evoked nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0001605,Vocal cord paralysis,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0001751,Vestibular dysfunction,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0002071,Abnormality of extrapyramidal motor function,Very frequent (99-80%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0002198,Dilated fourth ventricle,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0002493,Upper motor neuron dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0002503,Spinocerebellar tract degeneration,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0004370,Abnormality of temperature regulation,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0007089,Facial-lingual fasciculations,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0008944,Distal lower limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0011960,Substantia nigra gliosis,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021048,Orphanet,276238,ORPHA:276238,34,HP:0040140,Degeneration of the striatum,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0000011,Neurogenic bladder,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0000590,Progressive external ophthalmoplegia,Very frequent (99-80%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0000623,Supranuclear ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0000640,Gaze-evoked nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0001605,Vocal cord paralysis,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0001751,Vestibular dysfunction,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0002071,Abnormality of extrapyramidal motor function,Very frequent (99-80%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0002198,Dilated fourth ventricle,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0002503,Spinocerebellar tract degeneration,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0004370,Abnormality of temperature regulation,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0007089,Facial-lingual fasciculations,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0008944,Distal lower limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0011960,Substantia nigra gliosis,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021049,Orphanet,276241,ORPHA:276241,34,HP:0040140,Degeneration of the striatum,Frequent (79-30%),TAS,,,,"[PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0000011,Neurogenic bladder,Occasional (29-5%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0000590,Progressive external ophthalmoplegia,Very frequent (99-80%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0000623,Supranuclear ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0000640,Gaze-evoked nystagmus,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0001605,Vocal cord paralysis,Occasional (29-5%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0001751,Vestibular dysfunction,Occasional (29-5%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0002071,Abnormality of extrapyramidal motor function,Very frequent (99-80%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0002198,Dilated fourth ventricle,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0002366,Abnormal lower motor neuron morphology,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0002398,Degeneration of anterior horn cells,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0002503,Spinocerebellar tract degeneration,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0004370,Abnormality of temperature regulation,Occasional (29-5%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0007089,Facial-lingual fasciculations,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0008944,Distal lower limb amyotrophy,Very frequent (99-80%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0011960,Substantia nigra gliosis,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021050,Orphanet,276244,ORPHA:276244,38,HP:0040140,Degeneration of the striatum,Frequent (79-30%),TAS,,,,"[PMID:14967775, PMID:15178224, PMID:20301375, PMID:21635785, PMID:945867]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0000034,Hydrocele testis,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0000105,Enlarged kidney,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0001012,Multiple lipomas,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0001051,Seborrheic dermatitis,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0001548,Overgrowth,Obligate (100%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0001829,Foot polydactyly,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0002624,Abnormal venous morphology,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0002667,Nephroblastoma,Very rare (<4-1%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0003764,Nevus,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0004099,Macrodactyly,Frequent (79-30%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0010714,2-4 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0012887,Ovarian serous cystadenoma,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0040009,Hyperparakeratosis,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0100578,Lipoatrophy,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0100585,Telangiectasia of the skin,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0100659,Abnormal cerebral vascular morphology,Frequent (79-30%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021051,Orphanet,276280,ORPHA:276280,19,HP:0100763,Abnormality of the lymphatic system,Occasional (29-5%),TAS,,,,"[PMID:24782230, PMID:25557259, PMID:25915946]",y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000288,Abnormality of the philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000308,Microretrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000389,Chronic otitis media,Occasional (29-5%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0000889,Abnormal clavicle morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0002357,Dysphasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0002381,Aphasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0021052,Orphanet,276422,ORPHA:276422,22,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0000713,Agitation,Frequent (79-30%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0000825,Hyperinsulinemic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0001069,Episodic hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0001325,Hypoglycemic coma,Occasional (29-5%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0001985,Hypoketotic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0001988,Recurrent hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0002173,Hypoglycemic seizures,Occasional (29-5%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0002329,Drowsiness,Frequent (79-30%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0002591,Polyphagia,Occasional (29-5%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0012051,Reactive hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0012759,Neurodevelopmental abnormality,Frequent (79-30%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0030796,Increased C-peptide level,Very frequent (99-80%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0031084,Excessive insulin response to glucagon test,Very frequent (99-80%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0031224,Diffuse pancreatic islet hyperplasia,Occasional (29-5%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021054,Orphanet,276556,ORPHA:276556,26,HP:0040299,Decreased circulating free fatty acid level,Very frequent (99-80%),TAS,,,,"[PMID:19065272, PMID:21967988, PMID:29280746, PMID:30246418, PMID:31414570]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0000825,Hyperinsulinemic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0000842,Hyperinsulinemia,Frequent (79-30%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0001259,Coma,Very frequent (99-80%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0001337,Tremor,Very frequent (99-80%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0001649,Tachycardia,Very frequent (99-80%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0001985,Hypoketotic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0002329,Drowsiness,Occasional (29-5%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0002344,Progressive neurologic deterioration,Very frequent (99-80%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0003162,Fasting hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0003324,Generalized muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0004324,Increased body weight,Very frequent (99-80%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0004510,Pancreatic islet-cell hyperplasia,Very frequent (99-80%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0012051,Reactive hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021056,Orphanet,276608,ORPHA:276608,21,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:10323384, PMID:11114627, PMID:11387003, PMID:15581742, PMID:17263973, PMID:18208578, PMID:2294697, PMID:7235948, PMID:9435328, PMID:9724169]",y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0000674,Anodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0000677,Oligodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0000716,Depression,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0001176,Large hands,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0007302,Bipolar affective disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0021057,Orphanet,276630,ORPHA:276630,21,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0021058,Orphanet,279882,ORPHA:279882,3,HP:0000473,Torticollis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021058,Orphanet,279882,ORPHA:279882,3,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021058,Orphanet,279882,ORPHA:279882,3,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0000585,Band keratopathy,Occasional (29-5%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0001970,Tubulointerstitial nephritis,Very rare (<4-1%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0003765,Psoriasiform dermatitis,Very rare (<4-1%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0011484,Posterior synechiae of the anterior chamber,Occasional (29-5%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0011505,Cystoid macular edema,Occasional (29-5%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0012122,Anterior uveitis,Occasional (29-5%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0030652,Vitreous haze,Occasional (29-5%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0030661,Vitreous snowballs,Occasional (29-5%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0031035,Chronic infection,Very rare (<4-1%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0040049,Macular edema,Frequent (79-30%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0100014,Epiretinal membrane,Occasional (29-5%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0100653,Optic neuritis,Occasional (29-5%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0100832,Vitreous floaters,Occasional (29-5%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021065,Orphanet,279914,ORPHA:279914,18,HP:0200056,Macular scar,Very rare (<4-1%),TAS,,,,"[PMID:28449695, PMID:29370567, PMID:31082037]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0001285,Spastic tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0002305,Athetosis,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0002310,Orofacial dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0002346,Head tremor,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0006808,Cerebral hypomyelination,Very frequent (99-80%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0007377,Abnormality of somatosensory evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0011203,EEG with abnormally slow frequencies,Very frequent (99-80%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0025336,Delayed ability to sit,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0030187,Titubation,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0031936,Delayed ability to walk,Very frequent (99-80%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0031954,Dystonic gait,Occasional (29-5%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0040330,Confluent hyperintensity of cerebral white matter on MRI,Very frequent (99-80%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021073,Orphanet,280219,ORPHA:280219,27,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:, PMID:18190592, PMID:20301361, PMID:24519770, PMID:32809357]",y,y +GARD:0021074,Orphanet,280224,ORPHA:280224,5,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:16778599, PMID:20301361]",y,y +GARD:0021074,Orphanet,280224,ORPHA:280224,5,HP:0001285,Spastic tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:16778599, PMID:20301361]",y,y +GARD:0021074,Orphanet,280224,ORPHA:280224,5,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:16778599, PMID:20301361]",y,y +GARD:0021074,Orphanet,280224,ORPHA:280224,5,HP:0003429,CNS hypomyelination,Very frequent (99-80%),TAS,,,,"[PMID:16778599, PMID:20301361]",y,y +GARD:0021074,Orphanet,280224,ORPHA:280224,5,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:16778599, PMID:20301361]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0000011,Neurogenic bladder,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0003429,CNS hypomyelination,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0007413,Nevus flammeus of the forehead,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0010936,Abnormality of the lower urinary tract,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0011343,Moderate global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0030784,Anomic aphasia,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0030890,Hyperintensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0032044,Decreased vigilance,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021075,Orphanet,280229,ORPHA:280229,29,HP:0032588,Hand apraxia,Occasional (29-5%),TAS,,,,"[PMID:21623770, PMID:25831654, PMID:26279330]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0000147,Polycystic ovaries,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0000287,Increased facial adipose tissue,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0000311,Round face,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0000418,Narrow nasal ridge,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0000468,Increased adipose tissue around the neck,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0000819,Diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0000869,Secondary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0000956,Acanthosis nigricans,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0000991,Xanthomatosis,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0001677,Coronary artery atherosclerosis,Occasional (29-5%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0001870,Acroosteolysis of distal phalanges (feet),Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0002621,Atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0003233,Decreased HDL cholesterol concentration,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0003292,Decreased serum leptin,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0003635,Loss of subcutaneous adipose tissue in limbs,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0003712,Skeletal muscle hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0003717,Minimal subcutaneous fat,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0003758,Reduced subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0004308,Ventricular arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0004416,Precocious atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0004943,Accelerated atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0005115,Supraventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0005150,Abnormal atrioventricular conduction,Occasional (29-5%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0005328,Progeroid facial appearance,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0006288,Advanced eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0008968,Muscle hypertrophy of the lower extremities,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0008993,Increased intraabdominal fat,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0009125,Lipodystrophy,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0009771,Osteolytic defects of the phalanges of the hand,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0030685,Decreased adiponectin level,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0040266,Proximal upper limb muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021080,Orphanet,280365,ORPHA:280365,49,HP:0100607,Dysmenorrhea,Occasional (29-5%),TAS,,,,"[PMID:20421363, PMID:21346069, PMID:25819867]",y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0000218,High palate,Occasional (29-5%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Frequent (79-30%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0002378,Hand tremor,Occasional (29-5%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0003121,Limb joint contracture,Very frequent (99-80%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0006380,Knee flexion contracture,Frequent (79-30%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0006466,Ankle flexion contracture,Frequent (79-30%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0007350,Hyperreflexia in upper limbs,Occasional (29-5%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0011448,Ankle clonus,Occasional (29-5%),TAS,,,,[PMID:21330303],y,y +GARD:0021083,Orphanet,280384,ORPHA:280384,20,HP:0100712,Abnormal lumbar spine morphology,Occasional (29-5%),TAS,,,,[PMID:21330303],y,y +GARD:0021084,Orphanet,280397,ORPHA:280397,12,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,[PMID:21416485],y,y +GARD:0021084,Orphanet,280397,ORPHA:280397,12,HP:0000712,Emotional lability,Very frequent (99-80%),TAS,,,,[PMID:21416485],y,y +GARD:0021084,Orphanet,280397,ORPHA:280397,12,HP:0000716,Depression,Very frequent (99-80%),TAS,,,,[PMID:21416485],y,y +GARD:0021084,Orphanet,280397,ORPHA:280397,12,HP:0000739,Anxiety,Very frequent (99-80%),TAS,,,,[PMID:21416485],y,y +GARD:0021084,Orphanet,280397,ORPHA:280397,12,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,[PMID:21416485],y,y +GARD:0021084,Orphanet,280397,ORPHA:280397,12,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,[PMID:21416485],y,y +GARD:0021084,Orphanet,280397,ORPHA:280397,12,HP:0002549,Deficit in phonologic short-term memory,Very frequent (99-80%),TAS,,,,[PMID:21416485],y,y +GARD:0021084,Orphanet,280397,ORPHA:280397,12,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,[PMID:21416485],y,y +GARD:0021084,Orphanet,280397,ORPHA:280397,12,HP:0011458,Abdominal symptom,Very frequent (99-80%),TAS,,,,[PMID:21416485],y,y +GARD:0021084,Orphanet,280397,ORPHA:280397,12,HP:0030223,Perseveration,Very frequent (99-80%),TAS,,,,[PMID:21416485],y,y +GARD:0021084,Orphanet,280397,ORPHA:280397,12,HP:0040264,Jaw pain,Very frequent (99-80%),TAS,,,,[PMID:21416485],y,y +GARD:0021084,Orphanet,280397,ORPHA:280397,12,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,[PMID:21416485],y,y +GARD:0021088,Orphanet,280785,ORPHA:280785,7,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021088,Orphanet,280785,ORPHA:280785,7,HP:0001019,Erythroderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021088,Orphanet,280785,ORPHA:280785,7,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021088,Orphanet,280785,ORPHA:280785,7,HP:0005587,Profuse pigmented skin lesions,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021088,Orphanet,280785,ORPHA:280785,7,HP:0006543,Cardiorespiratory arrest,Occasional (29-5%),TAS,,,,,y,y +GARD:0021088,Orphanet,280785,ORPHA:280785,7,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021088,Orphanet,280785,ORPHA:280785,7,HP:0200151,Cutaneous mastocytosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021089,Orphanet,280794,ORPHA:280794,2,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021089,Orphanet,280794,ORPHA:280794,2,HP:0200151,Cutaneous mastocytosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021098,Orphanet,280914,ORPHA:280914,12,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,"[PMID:15953427, PMID:26310495, PMID:28602016, PMID:31082037]",y,y +GARD:0021098,Orphanet,280914,ORPHA:280914,12,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:15953427, PMID:26310495, PMID:28602016, PMID:31082037]",y,y +GARD:0021098,Orphanet,280914,ORPHA:280914,12,HP:0000616,Miosis,Occasional (29-5%),TAS,,,,"[PMID:15953427, PMID:26310495, PMID:28602016, PMID:31082037]",y,y +GARD:0021098,Orphanet,280914,ORPHA:280914,12,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:15953427, PMID:26310495, PMID:28602016, PMID:31082037]",y,y +GARD:0021098,Orphanet,280914,ORPHA:280914,12,HP:0007787,Posterior subcapsular cataract,Occasional (29-5%),TAS,,,,"[PMID:15953427, PMID:26310495, PMID:28602016, PMID:31082037]",y,y +GARD:0021098,Orphanet,280914,ORPHA:280914,12,HP:0007906,Ocular hypertension,Occasional (29-5%),TAS,,,,"[PMID:15953427, PMID:26310495, PMID:28602016, PMID:31082037]",y,y +GARD:0021098,Orphanet,280914,ORPHA:280914,12,HP:0011484,Posterior synechiae of the anterior chamber,Occasional (29-5%),TAS,,,,"[PMID:15953427, PMID:26310495, PMID:28602016, PMID:31082037]",y,y +GARD:0021098,Orphanet,280914,ORPHA:280914,12,HP:0012796,Increased cup-to-disc ratio,Very rare (<4-1%),TAS,,,,"[PMID:15953427, PMID:26310495, PMID:28602016, PMID:31082037]",y,y +GARD:0021098,Orphanet,280914,ORPHA:280914,12,HP:0025337,Red eye,Very frequent (99-80%),TAS,,,,"[PMID:15953427, PMID:26310495, PMID:28602016, PMID:31082037]",y,y +GARD:0021098,Orphanet,280914,ORPHA:280914,12,HP:0040049,Macular edema,Frequent (79-30%),TAS,,,,"[PMID:15953427, PMID:26310495, PMID:28602016, PMID:31082037]",y,y +GARD:0021098,Orphanet,280914,ORPHA:280914,12,HP:0100018,Nuclear cataract,Occasional (29-5%),TAS,,,,"[PMID:15953427, PMID:26310495, PMID:28602016, PMID:31082037]",y,y +GARD:0021098,Orphanet,280914,ORPHA:280914,12,HP:0200026,Ocular pain,Very frequent (99-80%),TAS,,,,"[PMID:15953427, PMID:26310495, PMID:28602016, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0000616,Miosis,Occasional (29-5%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0007906,Ocular hypertension,Very rare (<4-1%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0011484,Posterior synechiae of the anterior chamber,Occasional (29-5%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0011505,Cystoid macular edema,Occasional (29-5%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0011506,Choroidal neovascularization,Very rare (<4-1%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0025337,Red eye,Frequent (79-30%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0030652,Vitreous haze,Frequent (79-30%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0030661,Vitreous snowballs,Occasional (29-5%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0030953,Conjunctival hyperemia,Occasional (29-5%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0100014,Epiretinal membrane,Very rare (<4-1%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0100832,Vitreous floaters,Occasional (29-5%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021100,Orphanet,280921,ORPHA:280921,19,HP:0200026,Ocular pain,Frequent (79-30%),TAS,,,,"[PMID:19902397, PMID:27782762, PMID:2795939, PMID:31082037]",y,y +GARD:0021108,Orphanet,281127,ORPHA:281127,6,HP:0007514,Edema of the dorsum of hands,Very frequent (99-80%),TAS,,,,"[PMID:19500103, PMID:22739337]",y,y +GARD:0021108,Orphanet,281127,ORPHA:281127,6,HP:0007559,Localized epidermolytic hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:19500103, PMID:22739337]",y,y +GARD:0021108,Orphanet,281127,ORPHA:281127,6,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,"[PMID:19500103, PMID:22739337]",y,y +GARD:0021108,Orphanet,281127,ORPHA:281127,6,HP:0012098,Edema of the dorsum of feet,Very frequent (99-80%),TAS,,,,"[PMID:19500103, PMID:22739337]",y,y +GARD:0021108,Orphanet,281127,ORPHA:281127,6,HP:0025524,Palmoplantar scaling skin,Very frequent (99-80%),TAS,,,,"[PMID:19500103, PMID:22739337]",y,y +GARD:0021108,Orphanet,281127,ORPHA:281127,6,HP:0100679,Lack of skin elasticity,Very frequent (99-80%),TAS,,,,"[PMID:19500103, PMID:22739337]",y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000053,Macroorchidism,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000454,Flared nostrils,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0000776,Congenital diaphragmatic hernia,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0001620,High pitched voice,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0001956,Truncal obesity,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0002788,Recurrent upper respiratory tract infections,Occasional (29-5%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0004691,2-3 toe syndactyly,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0007164,Slowed slurred speech,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0009890,High anterior hairline,Occasional (29-5%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0011343,Moderate global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021117,Orphanet,284180,ORPHA:284180,34,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,[PMID:21684358],y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0000485,Megalocornea,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0000973,Cutis laxa,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0001083,Ectopia lentis,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0001181,Adducted thumb,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0001634,Mitral valve prolapse,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0001653,Mitral regurgitation,Obligate (100%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0001704,Tricuspid valve prolapse,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0001713,Abnormal cardiac ventricle morphology,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0002097,Emphysema,Obligate (100%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0002616,Aortic root aneurysm,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0002643,Neonatal respiratory distress,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0003116,Abnormal echocardiogram,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0004970,Ascending tubular aorta aneurysm,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0005180,Tricuspid regurgitation,Obligate (100%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0008124,Talipes calcaneovarus,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0009901,Crumpled ear,Frequent (79-30%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0010511,Long toe,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0011003,High myopia,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0012418,Hypoxemia,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0012771,Increased arm span,Frequent (79-30%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0030148,Heart murmur,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0100625,Enlarged thorax,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0100693,Iridodonesis,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021128,Orphanet,284979,ORPHA:284979,43,HP:0100807,Long fingers,Very frequent (99-80%),TAS,,,,"[PMID:15770129, PMID:16222685, PMID:17366579, PMID:20455198]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0002506,Diffuse cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0005484,Secondary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0009062,Infantile axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0010818,Generalized tonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0010844,EEG with multifocal slow activity,Frequent (79-30%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0011097,Epileptic spasm,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0011451,Primary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0012171,Stereotypical hand wringing,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0012447,Abnormal myelination,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0012547,Abnormal involuntary eye movements,Occasional (29-5%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021134,Orphanet,289266,ORPHA:289266,29,HP:0012736,Profound global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20890276, PMID:24504326, PMID:24839611]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0000570,Abnormal saccadic eye movements,Occasional (29-5%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0000640,Gaze-evoked nystagmus,Occasional (29-5%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0002075,Dysdiadochokinesis,Occasional (29-5%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0002926,Abnormality of thyroid physiology,Occasional (29-5%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0006808,Cerebral hypomyelination,Very frequent (99-80%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021140,Orphanet,289494,ORPHA:289494,32,HP:0031206,Striatal T2 hyperintensity,Very rare (<4-1%),TAS,,,,"[PMID:22855961, PMID:31768296, PMID:33005949]",y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000527,Long eyelashes,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000563,Keratoconus,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0001250,Seizure,Excluded (0%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0001762,Talipes equinovarus,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0001840,Metatarsus adductus,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0002487,Hyperkinetic movements,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0003077,Hyperlipidemia,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0003763,Bruxism,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0006316,Irregularly spaced teeth,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0006951,Retrocerebellar cyst,Frequent (79-30%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0009907,Attached earlobe,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0011098,Speech apraxia,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0011822,Broad chin,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021142,Orphanet,289522,ORPHA:289522,39,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,[PMID:21617255],y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0000033,"Ambiguous genitalia, male",Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0000037,Male pseudohermaphroditism,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0000127,Renal salt wasting,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0000142,Abnormal vagina morphology,Occasional (29-5%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0000151,Aplasia of the uterus,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0000835,Adrenal hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0000848,Increased circulating renin level,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0001197,Abnormality of prenatal development or birth,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0001941,Acidosis,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0001998,Neonatal hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0002153,Hyperkalemia,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0002902,Hyponatremia,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0003107,Abnormal circulating cholesterol concentration,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0003154,Increased circulating ACTH level,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0004319,Decreased circulating aldosterone level,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0007574,Generalized bronze hyperpigmentation,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0008073,Low maternal serum estriol,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0008163,Decreased circulating cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0008187,Absence of secondary sex characteristics,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0008207,Primary adrenal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0008232,Elevated circulating follicle stimulating hormone level,Frequent (79-30%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0008665,Clitoral hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0008730,"Female external genitalia in individual with 46,XY karyotype",Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0010512,Adrenal calcification,Occasional (29-5%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0010789,Abnormality of the Leydig cells,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0011106,Hypovolemia,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0011749,Adrenocorticotropic hormone excess,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0011969,Elevated circulating luteinizing hormone level,Frequent (79-30%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0012244,Abnormal sex determination,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0012245,Sex reversal,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0012598,Abnormal urine potassium concentration,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0012605,Hypernatriuria,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0012854,Midshaft hypospadias,Occasional (29-5%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0030349,Decreased circulating androgen concentration,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0030369,Induced vaginal delivery,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021143,Orphanet,289548,ORPHA:289548,52,HP:0100779,Urogenital sinus anomaly,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840]",y,y +GARD:0021144,Orphanet,289596,ORPHA:289596,8,HP:0000282,Facial edema,Frequent (79-30%),TAS,,,,"[PMID:15951557, PMID:19626637, PMID:29752322, PMID:30345941, PMID:4284864]",y,y +GARD:0021144,Orphanet,289596,ORPHA:289596,8,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,"[PMID:15951557, PMID:19626637, PMID:29752322, PMID:30345941, PMID:4284864]",y,y +GARD:0021144,Orphanet,289596,ORPHA:289596,8,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:15951557, PMID:19626637, PMID:29752322, PMID:30345941, PMID:4284864]",y,y +GARD:0021144,Orphanet,289596,ORPHA:289596,8,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:15951557, PMID:19626637, PMID:29752322, PMID:30345941, PMID:4284864]",y,y +GARD:0021144,Orphanet,289596,ORPHA:289596,8,HP:0001742,Nasal congestion,Frequent (79-30%),TAS,,,,"[PMID:15951557, PMID:19626637, PMID:29752322, PMID:30345941, PMID:4284864]",y,y +GARD:0021144,Orphanet,289596,ORPHA:289596,8,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:15951557, PMID:19626637, PMID:29752322, PMID:30345941, PMID:4284864]",y,y +GARD:0021144,Orphanet,289596,ORPHA:289596,8,HP:0012198,Juvenile colonic polyposis,Very rare (<4-1%),TAS,,,,"[PMID:15951557, PMID:19626637, PMID:29752322, PMID:30345941, PMID:4284864]",y,y +GARD:0021144,Orphanet,289596,ORPHA:289596,8,HP:0030429,Juvenile nasopharyngeal angiofibroma,Obligate (100%),TAS,,,,"[PMID:15951557, PMID:19626637, PMID:29752322, PMID:30345941, PMID:4284864]",y,y +GARD:0021169,Orphanet,293807,ORPHA:293807,4,HP:0000738,Hallucinations,Very frequent (99-80%),TAS,,,,[PMID:22124288],y,y +GARD:0021169,Orphanet,293807,ORPHA:293807,4,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,[PMID:22124288],y,y +GARD:0021169,Orphanet,293807,ORPHA:293807,4,HP:0012440,Abnormal biliary tract morphology,Very frequent (99-80%),TAS,,,,[PMID:22124288],y,y +GARD:0021169,Orphanet,293807,ORPHA:293807,4,HP:0100518,Dysuria,Very frequent (99-80%),TAS,,,,[PMID:22124288],y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0000155,Oral ulcer,Occasional (29-5%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0003341,Lamina lucida cleavage,Frequent (79-30%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0007473,Crusting erythematous dermatitis,Very rare (<4-1%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0010280,Stomatitis,Occasional (29-5%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0011354,Generalized abnormality of skin,Very rare (<4-1%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0011356,Regional abnormality of skin,Frequent (79-30%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0020172,Adverse drug response,Very frequent (99-80%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0025143,Chills,Very rare (<4-1%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0025474,Erythematous plaque,Frequent (79-30%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0032156,Skin detachment,Occasional (29-5%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0032565,Vaginal mucosal ulceration,Very rare (<4-1%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0200041,Skin erosion,Occasional (29-5%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021170,Orphanet,293812,ORPHA:293812,18,HP:0410323,Drug allergy,Very frequent (99-80%),TAS,,,,"[PMID:29469697, PMID:31006486, PMID:32002848]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000483,Astigmatism,Very frequent (99-80%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000742,Self-mutilation,Occasional (29-5%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0001382,Joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0100738,Abnormal eating behavior,Very frequent (99-80%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0100962,Shyness,Very frequent (99-80%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021173,Orphanet,293948,ORPHA:293948,25,HP:0400004,Long ear,Very frequent (99-80%),TAS,,,,"[PMID:21114665, PMID:22003227, PMID:26279650]",y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000831,Insulin-resistant diabetes mellitus,Frequent (79-30%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0000912,Sprengel anomaly,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0001123,Visual field defect,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0001562,Oligohydramnios,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0001845,Overlapping toe,Frequent (79-30%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0001935,Microcytic anemia,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0003799,Marked delay in bone age,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0006353,Hypoplasia of the tooth germ,Occasional (29-5%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0007266,Cerebral dysmyelination,Frequent (79-30%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0007642,Congenital stationary night blindness,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0008527,Congenital sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0008850,Severe postnatal growth retardation,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0009185,Contracture of the proximal interphalangeal joint of the 5th finger,Frequent (79-30%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0010055,Broad hallux,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0011246,Underdeveloped superior crus of antihelix,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0011343,Moderate global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0011408,Moderate intrauterine growth retardation,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0012795,Abnormality of the optic disc,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021174,Orphanet,293967,ORPHA:293967,47,HP:0100689,Decreased corneal thickness,Very frequent (99-80%),TAS,,,,[PMID:22002932],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0011094,Increased overbite,Occasional (29-5%),TAS,,,,[PMID:22052655],y,y +GARD:0021232,Orphanet,300305,ORPHA:300305,18,HP:0012389,Appendicular hypotonia,Occasional (29-5%),TAS,,,,[PMID:22052655],y,y +GARD:0021233,Orphanet,300493,ORPHA:300493,13,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,[PMID:24413727],y,y +GARD:0021233,Orphanet,300493,ORPHA:300493,13,HP:0000716,Depression,Frequent (79-30%),TAS,,,,[PMID:24413727],y,y +GARD:0021233,Orphanet,300493,ORPHA:300493,13,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,[PMID:24413727],y,y +GARD:0021233,Orphanet,300493,ORPHA:300493,13,HP:0001167,Abnormality of finger,Occasional (29-5%),TAS,,,,[PMID:24413727],y,y +GARD:0021233,Orphanet,300493,ORPHA:300493,13,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:24413727],y,y +GARD:0021233,Orphanet,300493,ORPHA:300493,13,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,[PMID:24413727],y,y +GARD:0021233,Orphanet,300493,ORPHA:300493,13,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,[PMID:24413727],y,y +GARD:0021233,Orphanet,300493,ORPHA:300493,13,HP:0002814,Abnormality of the lower limb,Frequent (79-30%),TAS,,,,[PMID:24413727],y,y +GARD:0021233,Orphanet,300493,ORPHA:300493,13,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,[PMID:24413727],y,y +GARD:0021233,Orphanet,300493,ORPHA:300493,13,HP:0003165,Elevated circulating parathyroid hormone level,Very frequent (99-80%),TAS,,,,[PMID:24413727],y,y +GARD:0021233,Orphanet,300493,ORPHA:300493,13,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:24413727],y,y +GARD:0021233,Orphanet,300493,ORPHA:300493,13,HP:0005101,High-frequency hearing impairment,Frequent (79-30%),TAS,,,,[PMID:24413727],y,y +GARD:0021233,Orphanet,300493,ORPHA:300493,13,HP:0012290,Mouth neoplasm,Occasional (29-5%),TAS,,,,[PMID:24413727],y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0006801,Hyperactive deep tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0006956,Dilation of lateral ventricles,Frequent (79-30%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0011331,Hemifacial atrophy,Frequent (79-30%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0012444,Brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0012768,Neonatal asphyxia,Frequent (79-30%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0100308,Cerebral cortical hemiatrophy,Occasional (29-5%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021262,Orphanet,306669,ORPHA:306669,17,HP:0100556,Hemiatrophy,Frequent (79-30%),TAS,,,,"[PMID:17938368, PMID:21361726]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0000712,Emotional lability,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0000746,Delusions,Frequent (79-30%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0000748,Inappropriate laughter,Frequent (79-30%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0002067,Bradykinesia,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0002071,Abnormality of extrapyramidal motor function,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0002172,Postural instability,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0002174,Postural tremor,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0002304,Akinesia,Frequent (79-30%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0002396,Cogwheel rigidity,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0002453,Abnormal globus pallidus morphology,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0003287,Abnormality of mitochondrial metabolism,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0006979,Sleep-wake cycle disturbance,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0025464,Increased reactive oxygen species production,Very frequent (99-80%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0030018,Decreased female libido,Frequent (79-30%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0030214,Hypersexuality,Occasional (29-5%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0031466,Impairment in personality functioning,Occasional (29-5%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021264,Orphanet,306682,ORPHA:306682,30,HP:0040306,Decreased male libido,Frequent (79-30%),TAS,,,,"[PMID:20403794, PMID:26154659, PMID:5101169, PMID:7936278]",y,y +GARD:0021265,Orphanet,306686,ORPHA:306686,9,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,[PMID:10927805],y,y +GARD:0021265,Orphanet,306686,ORPHA:306686,9,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,[PMID:10927805],y,y +GARD:0021265,Orphanet,306686,ORPHA:306686,9,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,[PMID:10927805],y,y +GARD:0021265,Orphanet,306686,ORPHA:306686,9,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,[PMID:10927805],y,y +GARD:0021265,Orphanet,306686,ORPHA:306686,9,HP:0002518,Abnormal periventricular white matter morphology,Very frequent (99-80%),TAS,,,,[PMID:10927805],y,y +GARD:0021265,Orphanet,306686,ORPHA:306686,9,HP:0002817,Abnormality of the upper limb,Frequent (79-30%),TAS,,,,[PMID:10927805],y,y +GARD:0021265,Orphanet,306686,ORPHA:306686,9,HP:0004673,Decreased facial expression,Frequent (79-30%),TAS,,,,[PMID:10927805],y,y +GARD:0021265,Orphanet,306686,ORPHA:306686,9,HP:0012706,Elevated brain choline level by MRS,Very frequent (99-80%),TAS,,,,[PMID:10927805],y,y +GARD:0021265,Orphanet,306686,ORPHA:306686,9,HP:0012708,Reduced brain N-acetyl aspartate level by MRS,Very frequent (99-80%),TAS,,,,[PMID:10927805],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0000298,Mask-like facies,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0002322,Resting tremor,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0002362,Shuffling gait,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0002425,Anarthria,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0002527,Falls,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0004673,Decreased facial expression,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0007034,Generalized hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0007311,Short stepped shuffling gait,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0007975,Hypometric horizontal saccades,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0011121,Abnormality of skin morphology,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021266,Orphanet,306692,ORPHA:306692,20,HP:0012157,Subcortical cerebral atrophy,Frequent (79-30%),TAS,,,,[PMID:2733710],y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0000245,Abnormal paranasal sinus morphology,Occasional (29-5%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0000250,Dense calvaria,Occasional (29-5%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0001269,Hemiparesis,Very frequent (99-80%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0001270,Motor delay,Very rare (<4-1%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0001787,Abnormal delivery,Frequent (79-30%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0002518,Abnormal periventricular white matter morphology,Very frequent (99-80%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0010540,Advanced pneumatization of cranial sinuses,Occasional (29-5%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0012106,Rhizomelic leg shortening,Very rare (<4-1%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0012751,Abnormal basal ganglia MRI signal intensity,Very frequent (99-80%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021273,Orphanet,306741,ORPHA:306741,15,HP:0100556,Hemiatrophy,Frequent (79-30%),TAS,,,,"[PMID:19097182, PMID:20482602, PMID:22030388]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0000183,Difficulty in tongue movements,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0000297,Facial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0001639,Hypertrophic cardiomyopathy,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0001640,Cardiomegaly,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0001712,Left ventricular hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0004887,Respiratory failure requiring assisted ventilation,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0005165,Shortened PR interval,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0009805,Low-output congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0010471,Oligosacchariduria,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0011947,Respiratory tract infection,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0025335,Delayed ability to stand,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0025336,Delayed ability to sit,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0025435,Increased circulating lactate dehydrogenase concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0031964,Elevated circulating alanine aminotransferase concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0032092,Left ventricular outflow tract obstruction,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021310,Orphanet,308552,ORPHA:308552,35,HP:0040329,Multifocal hyperintensity of cerebral white matter on MRI,Very frequent (99-80%),TAS,,,,"[PMID:20301438, PMID:30117059, PMID:32518148]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0000649,Abnormality of visual evoked potentials,Occasional (29-5%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0000746,Delusions,Occasional (29-5%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0001082,Cholecystitis,Occasional (29-5%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0001939,Abnormality of metabolism/homeostasis,Occasional (29-5%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0002371,Loss of speech,Occasional (29-5%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0002415,Leukodystrophy,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0003444,EMG: chronic denervation signs,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0007133,Progressive peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0008619,Bilateral sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0012433,Abnormal social behavior,Occasional (29-5%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0025013,Decerebrate rigidity,Very rare (<4-1%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0030081,Punctate periventricular T2 hyperintense foci,Frequent (79-30%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021328,Orphanet,309256,ORPHA:309256,36,HP:0031358,Vegetative state,Very rare (<4-1%),TAS,,,,"[PMID:14206875, PMID:20038527, PMID:21707604]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0000649,Abnormality of visual evoked potentials,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0000746,Delusions,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0001082,Cholecystitis,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0001939,Abnormality of metabolism/homeostasis,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0002371,Loss of speech,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0002415,Leukodystrophy,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0003444,EMG: chronic denervation signs,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0004343,Abnormal glycosphingolipid metabolism,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0007133,Progressive peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0007240,Progressive gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0007272,Progressive psychomotor deterioration,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0008619,Bilateral sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0012433,Abnormal social behavior,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0025013,Decerebrate rigidity,Very rare (<4-1%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0030081,Punctate periventricular T2 hyperintense foci,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021329,Orphanet,309263,ORPHA:309263,37,HP:0031358,Vegetative state,Very rare (<4-1%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:2876627, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0000649,Abnormality of visual evoked potentials,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0000738,Hallucinations,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0000746,Delusions,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0001082,Cholecystitis,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0001939,Abnormality of metabolism/homeostasis,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0002371,Loss of speech,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0002415,Leukodystrophy,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0002478,Progressive spastic quadriplegia,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0002483,Bulbar signs,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0003444,EMG: chronic denervation signs,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0004343,Abnormal glycosphingolipid metabolism,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0004926,Orthostatic hypotension due to autonomic dysfunction,Very rare (<4-1%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0007133,Progressive peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0007240,Progressive gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0007272,Progressive psychomotor deterioration,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0008619,Bilateral sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0012433,Abnormal social behavior,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0025013,Decerebrate rigidity,Very rare (<4-1%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0030081,Punctate periventricular T2 hyperintense foci,Frequent (79-30%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0031358,Vegetative state,Very rare (<4-1%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0100575,Neoplasm of the gallbladder,Very rare (<4-1%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021330,Orphanet,309271,ORPHA:309271,48,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,"[PMID:10682309, PMID:14206875, PMID:15710861, PMID:1674357, PMID:20038527, PMID:21502868, PMID:21707604, PMID:21955203, PMID:27261095, PMID:2876627, PMID:2905384, PMID:5963214]",y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000260,Wide anterior fontanel,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0001792,Small nail,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0008589,Hypoplastic helices,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0010442,Polydactyly,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0010804,Tented upper lip vermilion,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021360,Orphanet,313781,ORPHA:313781,35,HP:0045025,Narrow palpebral fissure,Occasional (29-5%),TAS,,,,[PMID:31087544],y,y +GARD:0021361,Orphanet,313906,ORPHA:313906,6,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:19231513, PMID:27088671]",y,y +GARD:0021361,Orphanet,313906,ORPHA:313906,6,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:19231513, PMID:27088671]",y,y +GARD:0021361,Orphanet,313906,ORPHA:313906,6,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:19231513, PMID:27088671]",y,y +GARD:0021361,Orphanet,313906,ORPHA:313906,6,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:19231513, PMID:27088671]",y,y +GARD:0021361,Orphanet,313906,ORPHA:313906,6,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:19231513, PMID:27088671]",y,y +GARD:0021361,Orphanet,313906,ORPHA:313906,6,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:19231513, PMID:27088671]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000331,Short chin,Occasional (29-5%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000356,Abnormality of the outer ear,Very frequent (99-80%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000718,Aggressive behavior,Very rare (<4-1%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000817,Poor eye contact,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0002370,Poor coordination,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0002465,Poor speech,Very frequent (99-80%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0005274,Prominent nasal tip,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0010055,Broad hallux,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021363,Orphanet,313947,ORPHA:313947,37,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,"[PMID:22085900, PMID:23632792]",y,y +GARD:0021367,Orphanet,314034,ORPHA:314034,11,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:25893121],y,y +GARD:0021367,Orphanet,314034,ORPHA:314034,11,HP:0000077,Abnormality of the kidney,Very frequent (99-80%),TAS,,,,[PMID:25893121],y,y +GARD:0021367,Orphanet,314034,ORPHA:314034,11,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,[PMID:25893121],y,y +GARD:0021367,Orphanet,314034,ORPHA:314034,11,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:25893121],y,y +GARD:0021367,Orphanet,314034,ORPHA:314034,11,HP:0000356,Abnormality of the outer ear,Very frequent (99-80%),TAS,,,,[PMID:25893121],y,y +GARD:0021367,Orphanet,314034,ORPHA:314034,11,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:25893121],y,y +GARD:0021367,Orphanet,314034,ORPHA:314034,11,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,[PMID:25893121],y,y +GARD:0021367,Orphanet,314034,ORPHA:314034,11,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:25893121],y,y +GARD:0021367,Orphanet,314034,ORPHA:314034,11,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,[PMID:25893121],y,y +GARD:0021367,Orphanet,314034,ORPHA:314034,11,HP:0001627,Abnormal heart morphology,Very frequent (99-80%),TAS,,,,[PMID:25893121],y,y +GARD:0021367,Orphanet,314034,ORPHA:314034,11,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:25893121],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0000543,Optic disc pallor,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0000649,Abnormality of visual evoked potentials,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0000713,Agitation,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0000964,Eczema,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0001054,Numerous nevi,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0002079,Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0002521,Hypsarrhythmia,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0003282,Low alkaline phosphatase,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0003700,Generalized amyotrophy,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0004691,2-3 toe syndactyly,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0007328,Impaired pain sensation,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0009908,Anterior creases of earlobe,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0010554,Cutaneous finger syndactyly,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0011265,Cleft earlobe,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0011343,Moderate global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0012751,Abnormal basal ganglia MRI signal intensity,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0030353,Decreased serum insulin-like growth factor 1,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021369,Orphanet,314389,ORPHA:314389,37,HP:0100739,Bulimia,Very frequent (99-80%),TAS,,,,[PMID:22213401],y,y +GARD:0021375,Orphanet,314473,ORPHA:314473,11,HP:0000137,Abnormality of the ovary,Very frequent (99-80%),TAS,,,,"[PMID:1256472, PMID:18501324, PMID:24602407, PMID:3951494]",y,y +GARD:0021375,Orphanet,314473,ORPHA:314473,11,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,"[PMID:1256472, PMID:18501324, PMID:24602407, PMID:3951494]",y,y +GARD:0021375,Orphanet,314473,ORPHA:314473,11,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:1256472, PMID:18501324, PMID:24602407, PMID:3951494]",y,y +GARD:0021375,Orphanet,314473,ORPHA:314473,11,HP:0002202,Pleural effusion,Very frequent (99-80%),TAS,,,,"[PMID:1256472, PMID:18501324, PMID:24602407, PMID:3951494]",y,y +GARD:0021375,Orphanet,314473,ORPHA:314473,11,HP:0002586,Peritonitis,Frequent (79-30%),TAS,,,,"[PMID:1256472, PMID:18501324, PMID:24602407, PMID:3951494]",y,y +GARD:0021375,Orphanet,314473,ORPHA:314473,11,HP:0002671,Basal cell carcinoma,Frequent (79-30%),TAS,,,,"[PMID:1256472, PMID:18501324, PMID:24602407, PMID:3951494]",y,y +GARD:0021375,Orphanet,314473,ORPHA:314473,11,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,"[PMID:1256472, PMID:18501324, PMID:24602407, PMID:3951494]",y,y +GARD:0021375,Orphanet,314473,ORPHA:314473,11,HP:0008703,Gonadal calcification,Frequent (79-30%),TAS,,,,"[PMID:1256472, PMID:18501324, PMID:24602407, PMID:3951494]",y,y +GARD:0021375,Orphanet,314473,ORPHA:314473,11,HP:0010603,Odontogenic keratocysts of the jaw,Frequent (79-30%),TAS,,,,"[PMID:1256472, PMID:18501324, PMID:24602407, PMID:3951494]",y,y +GARD:0021375,Orphanet,314473,ORPHA:314473,11,HP:0010618,Ovarian fibroma,Very frequent (99-80%),TAS,,,,"[PMID:1256472, PMID:18501324, PMID:24602407, PMID:3951494]",y,y +GARD:0021375,Orphanet,314473,ORPHA:314473,11,HP:0030451,Mesenteric cyst,Frequent (79-30%),TAS,,,,"[PMID:1256472, PMID:18501324, PMID:24602407, PMID:3951494]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0000137,Abnormality of the ovary,Very frequent (99-80%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0002202,Pleural effusion,Very frequent (99-80%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0002586,Peritonitis,Frequent (79-30%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0003117,Abnormal circulating hormone concentration,Occasional (29-5%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0006756,Diffuse leiomyomatosis,Occasional (29-5%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0008703,Gonadal calcification,Occasional (29-5%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0010618,Ovarian fibroma,Very frequent (99-80%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0030088,Increased serum testosterone level,Occasional (29-5%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0030126,Abnormality of the endometrium,Occasional (29-5%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0100244,Fibrosarcoma,Occasional (29-5%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021376,Orphanet,314478,ORPHA:314478,15,HP:0100608,Metrorrhagia,Very frequent (99-80%),TAS,,,,"[PMID:10193334, PMID:11426907, PMID:16844153, PMID:18501324, PMID:24670054, PMID:8629912]",y,y +GARD:0021379,Orphanet,314575,ORPHA:314575,14,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:22611637],y,y +GARD:0021379,Orphanet,314575,ORPHA:314575,14,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:22611637],y,y +GARD:0021379,Orphanet,314575,ORPHA:314575,14,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,[PMID:22611637],y,y +GARD:0021379,Orphanet,314575,ORPHA:314575,14,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:22611637],y,y +GARD:0021379,Orphanet,314575,ORPHA:314575,14,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,[PMID:22611637],y,y +GARD:0021379,Orphanet,314575,ORPHA:314575,14,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:22611637],y,y +GARD:0021379,Orphanet,314575,ORPHA:314575,14,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,[PMID:22611637],y,y +GARD:0021379,Orphanet,314575,ORPHA:314575,14,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,[PMID:22611637],y,y +GARD:0021379,Orphanet,314575,ORPHA:314575,14,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:22611637],y,y +GARD:0021379,Orphanet,314575,ORPHA:314575,14,HP:0002021,Pyloric stenosis,Frequent (79-30%),TAS,,,,[PMID:22611637],y,y +GARD:0021379,Orphanet,314575,ORPHA:314575,14,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:22611637],y,y +GARD:0021379,Orphanet,314575,ORPHA:314575,14,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,[PMID:22611637],y,y +GARD:0021379,Orphanet,314575,ORPHA:314575,14,HP:0008689,Bilateral cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:22611637],y,y +GARD:0021379,Orphanet,314575,ORPHA:314575,14,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,[PMID:22611637],y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0000157,Abnormality of the tongue,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0000244,Brachyturricephaly,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0000742,Self-mutilation,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0002084,Encephalocele,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0002418,Abnormal midbrain morphology,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0002580,Volvulus,Occasional (29-5%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0002679,Abnormal sella turcica morphology,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0002943,Thoracic scoliosis,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0003310,Abnormality of the odontoid process,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0003319,Abnormality of the cervical spine,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0004325,Decreased body weight,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0007036,Hypoplasia of olfactory tract,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0007642,Congenital stationary night blindness,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0009792,Teratoma,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0011069,Supernumerary tooth,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0011729,Abnormality of joint mobility,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0012286,Abnormal hypothalamus morphology,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0012503,Abnormality of the pituitary gland,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:0100872,Abnormality of the plantar skin of foot,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021381,Orphanet,314621,ORPHA:314621,34,HP:3000005,Abnormality of masseter muscle,Very frequent (99-80%),TAS,,,,"[PMID:21415659, PMID:22439114, PMID:23182816]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0000157,Abnormality of the tongue,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0001917,Renal amyloidosis,Frequent (79-30%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0002176,Spinal cord compression,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0002756,Pathologic fracture,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0003365,Arthralgia of the hip,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0005244,Gastrointestinal infarctions,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0007141,Sensorimotor neuropathy,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0010286,Abnormal salivary gland morphology,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0011805,Abnormal skeletal muscle morphology,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0011915,Cardiovascular calcification,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0012065,Multiple bony cystic lesions,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0012185,Constrictive median neuropathy,Frequent (79-30%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0012280,Hepatic amyloidosis,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0012309,Cutaneous amyloidosis,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0012664,Reduced ejection fraction,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0025015,Abnormal vascular morphology,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0030834,Shoulder pain,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0030836,Wrist pain,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0030839,Knee pain,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0030843,Cardiac amyloidosis,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0031368,Intestinal perforation,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021382,Orphanet,314652,ORPHA:314652,24,HP:0100292,Amyloidosis of peripheral nerves,Occasional (29-5%),TAS,,,,"[PMID:25750126, PMID:26333542, PMID:31226597, PMID:32392555, PMID:33112446]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0000341,Narrow forehead,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0002002,Deep philtrum,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0002791,Hypoventilation,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0005338,Sparse lateral eyebrow,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0005487,Prominent metopic ridge,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0006829,Severe muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0010442,Polydactyly,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0011097,Epileptic spasm,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0011167,Focal tonic seizure,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0012444,Brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0025190,Bilateral tonic-clonic seizure with generalized onset,Occasional (29-5%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021383,Orphanet,314655,ORPHA:314655,37,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:22711443, PMID:28448108]",y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000141,Amenorrhea,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000716,Depression,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000802,Impotence,Occasional (29-5%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000830,Anterior hypopituitarism,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000845,Elevated circulating growth hormone concentration,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000870,Increased circulating prolactin concentration,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0001176,Large hands,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0001769,Broad foot,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0001869,Deep plantar creases,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0002758,Osteoarthritis,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0002893,Pituitary adenoma,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0003416,Spinal canal stenosis,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0003859,Cortical diaphyseal thickening of the upper limbs,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0004099,Macrodactyly,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0006191,Deep palmar crease,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0006767,Pituitary prolactin cell adenoma,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0007440,Generalized hyperpigmentation,Occasional (29-5%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0008388,Abnormal toenail morphology,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0010535,Sleep apnea,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0011760,Pituitary growth hormone cell adenoma,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0012802,Broad jaw,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0100021,Cerebral palsy,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0100518,Dysuria,Occasional (29-5%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0100607,Dysmenorrhea,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0100786,Hypersomnia,Occasional (29-5%),TAS,,,,[PMID:22720333],y,y +GARD:0021391,Orphanet,314769,ORPHA:314769,60,HP:0100829,Galactorrhea,Frequent (79-30%),TAS,,,,[PMID:22720333],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0000388,Otitis media,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0001812,Hyperconvex fingernails,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0002656,Epiphyseal dysplasia,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0002815,Abnormality of the knee,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0003025,Metaphyseal irregularity,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0003045,Abnormal patella morphology,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0003084,Fractures of the long bones,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0003886,Wide humerus,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0007642,Congenital stationary night blindness,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0008110,Equinovarus deformity,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0008124,Talipes calcaneovarus,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0008394,Congenital onychodystrophy,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0009926,Epiphora,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0012542,Onychauxis,Occasional (29-5%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0030055,Hyperconvex toenail,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021408,Orphanet,319195,ORPHA:319195,28,HP:0100255,Metaphyseal dysplasia,Very frequent (99-80%),TAS,,,,[PMID:22579605],y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0000282,Facial edema,Very frequent (99-80%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0001259,Coma,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0002181,Cerebral edema,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0002322,Resting tremor,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0002329,Drowsiness,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0002907,Microscopic hematuria,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0003645,Prolonged partial thromboplastin time,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0004787,Fulminant hepatitis,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0007430,Generalized edema,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0011896,Subconjunctival hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0012384,Rhinitis,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0025145,Rigors,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0025258,Stiff neck,Very frequent (99-80%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0025439,Pharyngitis,Very frequent (99-80%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0030139,Excessive bleeding after a venipuncture,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0030830,Crackles,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0031246,Nonproductive cough,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0031273,Shock,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0031364,Ecchymosis,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0031691,Severe viral infection,Very frequent (99-80%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0032043,Odynophagia,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0032155,Abdominal cramps,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0040186,Maculopapular exanthema,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0100520,Oliguria,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0100539,Periorbital edema,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021410,Orphanet,319213,ORPHA:319213,59,HP:0100750,Atelectasis,Occasional (29-5%),TAS,,,,"[PMID:25393244, PMID:27593704, PMID:29120740]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0000225,Gingival bleeding,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0000554,Uveitis,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0000573,Retinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0000575,Scotoma,Occasional (29-5%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0000738,Hallucinations,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0000790,Hematuria,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0000952,Jaundice,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0000988,Skin rash,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0001269,Hemiparesis,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0001873,Thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0001892,Abnormal bleeding,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0001903,Anemia,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0001977,Abnormal thrombosis,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0002248,Hematemesis,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0002249,Melena,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0002315,Headache,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0002321,Vertigo,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0002383,Infectious encephalitis,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0002385,Paraparesis,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0002910,Elevated hepatic transaminase,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0003237,Increased circulating IgG level,Very frequent (99-80%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0003418,Back pain,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0003470,Paralysis,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0003496,Increased circulating IgM level,Occasional (29-5%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0003781,Excessive salivation,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0004372,Reduced consciousness/confusion,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0005268,Miscarriage,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0005542,Prolonged whole-blood clotting time,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0012115,Hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0012229,CSF pleocytosis,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0020071,Viremia,Very frequent (99-80%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0025013,Decerebrate rigidity,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0025188,Retinal vasculitis,Occasional (29-5%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0031691,Severe viral infection,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0032118,Retinitis,Occasional (29-5%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0032323,Periodic fever,Occasional (29-5%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0040049,Macular edema,Very rare (<4-1%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021416,Orphanet,319251,ORPHA:319251,44,HP:0200026,Ocular pain,Occasional (29-5%),TAS,,,,"[PMID:28457351, PMID:31310198, PMID:32816810]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0000648,Optic atrophy,Excluded (0%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0002151,Increased serum lactate,Excluded (0%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0002166,Impaired vibration sensation in the lower limbs,Very frequent (99-80%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0005115,Supraventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0008969,Leg muscle stiffness,Occasional (29-5%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021433,Orphanet,320360,ORPHA:320360,17,HP:0012514,Lower limb pain,Very frequent (99-80%),TAS,,,,"[PMID:20656066, PMID:23897027]",y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000218,High palate,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000308,Microretrognathia,Very frequent (99-80%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0001795,Hyperconvex nail,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0002378,Hand tremor,Frequent (79-30%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0003241,External genital hypoplasia,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0003763,Bruxism,Very frequent (99-80%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0010489,Absent palmar crease,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0011330,Metopic synostosis,Occasional (29-5%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:0011342,Mild global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:22887577],y,y +GARD:0021437,Orphanet,324313,ORPHA:324313,32,HP:3000022,Abnormality of cartilage of external ear,Frequent (79-30%),TAS,,,,[PMID:22887577],y,y +GARD:0021441,Orphanet,324416,ORPHA:324416,14,HP:0000078,Abnormality of the genital system,Frequent (79-30%),TAS,,,,[PMID:2494887],y,y +GARD:0021441,Orphanet,324416,ORPHA:324416,14,HP:0000202,Oral cleft,Very frequent (99-80%),TAS,,,,[PMID:2494887],y,y +GARD:0021441,Orphanet,324416,ORPHA:324416,14,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,[PMID:2494887],y,y +GARD:0021441,Orphanet,324416,ORPHA:324416,14,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,[PMID:2494887],y,y +GARD:0021441,Orphanet,324416,ORPHA:324416,14,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,[PMID:2494887],y,y +GARD:0021441,Orphanet,324416,ORPHA:324416,14,HP:0000589,Coloboma,Very rare (<4-1%),TAS,,,,[PMID:2494887],y,y +GARD:0021441,Orphanet,324416,ORPHA:324416,14,HP:0002085,Occipital encephalocele,Occasional (29-5%),TAS,,,,[PMID:2494887],y,y +GARD:0021441,Orphanet,324416,ORPHA:324416,14,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,[PMID:2494887],y,y +GARD:0021441,Orphanet,324416,ORPHA:324416,14,HP:0002438,Cerebellar malformation,Obligate (100%),TAS,,,,[PMID:2494887],y,y +GARD:0021441,Orphanet,324416,ORPHA:324416,14,HP:0003741,Congenital muscular dystrophy,Obligate (100%),TAS,,,,[PMID:2494887],y,y +GARD:0021441,Orphanet,324416,ORPHA:324416,14,HP:0004488,Macrocephaly at birth,Frequent (79-30%),TAS,,,,[PMID:2494887],y,y +GARD:0021441,Orphanet,324416,ORPHA:324416,14,HP:0007260,Type II lissencephaly,Very frequent (99-80%),TAS,,,,[PMID:2494887],y,y +GARD:0021441,Orphanet,324416,ORPHA:324416,14,HP:0007700,Ocular anterior segment dysgenesis,Very frequent (99-80%),TAS,,,,[PMID:2494887],y,y +GARD:0021441,Orphanet,324416,ORPHA:324416,14,HP:0007973,Retinal dysplasia,Obligate (100%),TAS,,,,[PMID:2494887],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000046,Small scrotum,Occasional (29-5%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000059,Hypoplastic labia majora,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000064,Hypoplastic labia minora,Occasional (29-5%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000556,Retinal dystrophy,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000637,Long palpebral fissure,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0001602,Laryngeal stenosis,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0001686,Loss of voice,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0001799,Short nail,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0001822,Hallux valgus,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0003186,Inverted nipples,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0008757,Unilateral vocal cord paralysis,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0009183,Joint contracture of the 5th finger,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0009537,Flexion contracture of the 2nd finger,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0009600,Flexion contracture of thumb,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0010066,Duplication of phalanx of hallux,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0010193,Duplication of distal phalanx of toe,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021443,Orphanet,324540,ORPHA:324540,35,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,[PMID:22991300],y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0000713,Agitation,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0000825,Hyperinsulinemic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0000842,Hyperinsulinemia,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0001069,Episodic hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0001325,Hypoglycemic coma,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0001985,Hypoketotic hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0001998,Neonatal hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0002173,Hypoglycemic seizures,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0002240,Hepatomegaly,Very rare (<4-1%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0002329,Drowsiness,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0002591,Polyphagia,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0003162,Fasting hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0004904,Maturity-onset diabetes of the young,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0012051,Reactive hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0012734,Ketotic hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0012759,Neurodevelopmental abnormality,Frequent (79-30%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0030796,Increased C-peptide level,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0031084,Excessive insulin response to glucagon test,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021444,Orphanet,324575,ORPHA:324575,30,HP:0040299,Decreased circulating free fatty acid level,Very frequent (99-80%),TAS,,,,"[PMID:21967988, PMID:29280746, PMID:29493090, PMID:31414570]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0000341,Narrow forehead,Very frequent (99-80%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0001612,Weak cry,Frequent (79-30%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0002058,Myopathic facies,Occasional (29-5%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0002795,Abnormal respiratory system physiology,Occasional (29-5%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0003687,Centrally nucleated skeletal muscle fibers,Occasional (29-5%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0031139,Frog-leg posture,Occasional (29-5%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021445,Orphanet,324581,ORPHA:324581,19,HP:0031237,Internally nucleated skeletal muscle fibers,Occasional (29-5%),TAS,,,,"[PMID:16959509, PMID:22752422]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0000039,Epispadias,Occasional (29-5%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0000041,Chordee,Frequent (79-30%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0000048,Bifid scrotum,Very frequent (99-80%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0000051,Perineal hypospadias,Very frequent (99-80%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0000056,Abnormality of the clitoris,Very frequent (99-80%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0000058,Abnormal labia morphology,Very frequent (99-80%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0000063,Fused labia minora,Very frequent (99-80%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0000150,Gonadoblastoma,Frequent (79-30%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0001197,Abnormality of prenatal development or birth,Very frequent (99-80%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0010459,True hermaphroditism,Very frequent (99-80%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0010460,Abnormality of the female genitalia,Very frequent (99-80%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0010461,Abnormality of the male genitalia,Very frequent (99-80%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0012244,Abnormal sex determination,Very frequent (99-80%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0012861,Ovotestis,Very frequent (99-80%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0030258,Hyperpigmented genitalia,Frequent (79-30%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021469,Orphanet,325345,ORPHA:325345,19,HP:0100779,Urogenital sinus anomaly,Very frequent (99-80%),TAS,,,,"[PMID:16624884, PMID:22573722, PMID:23065160, PMID:24758178]",y,y +GARD:0021486,Orphanet,329249,ORPHA:329249,11,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:20808231, PMID:23160192, PMID:24971614]",y,y +GARD:0021486,Orphanet,329249,ORPHA:329249,11,HP:0000735,Impaired social interactions,Very frequent (99-80%),TAS,,,,"[PMID:20808231, PMID:23160192, PMID:24971614]",y,y +GARD:0021486,Orphanet,329249,ORPHA:329249,11,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:20808231, PMID:23160192, PMID:24971614]",y,y +GARD:0021486,Orphanet,329249,ORPHA:329249,11,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:20808231, PMID:23160192, PMID:24971614]",y,y +GARD:0021486,Orphanet,329249,ORPHA:329249,11,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:20808231, PMID:23160192, PMID:24971614]",y,y +GARD:0021486,Orphanet,329249,ORPHA:329249,11,HP:0002591,Polyphagia,Very frequent (99-80%),TAS,,,,"[PMID:20808231, PMID:23160192, PMID:24971614]",y,y +GARD:0021486,Orphanet,329249,ORPHA:329249,11,HP:0002910,Elevated hepatic transaminase,Excluded (0%),TAS,,,,"[PMID:20808231, PMID:23160192, PMID:24971614]",y,y +GARD:0021486,Orphanet,329249,ORPHA:329249,11,HP:0003074,Hyperglycemia,Excluded (0%),TAS,,,,"[PMID:20808231, PMID:23160192, PMID:24971614]",y,y +GARD:0021486,Orphanet,329249,ORPHA:329249,11,HP:0003077,Hyperlipidemia,Excluded (0%),TAS,,,,"[PMID:20808231, PMID:23160192, PMID:24971614]",y,y +GARD:0021486,Orphanet,329249,ORPHA:329249,11,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20808231, PMID:23160192, PMID:24971614]",y,y +GARD:0021486,Orphanet,329249,ORPHA:329249,11,HP:0008763,No social interaction,Frequent (79-30%),TAS,,,,"[PMID:20808231, PMID:23160192, PMID:24971614]",y,y +GARD:0021489,Orphanet,329329,ORPHA:329329,11,HP:0000020,Urinary incontinence,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021489,Orphanet,329329,ORPHA:329329,11,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0021489,Orphanet,329329,ORPHA:329329,11,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0021489,Orphanet,329329,ORPHA:329329,11,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,,y,y +GARD:0021489,Orphanet,329329,ORPHA:329329,11,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021489,Orphanet,329329,ORPHA:329329,11,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0021489,Orphanet,329329,ORPHA:329329,11,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021489,Orphanet,329329,ORPHA:329329,11,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021489,Orphanet,329329,ORPHA:329329,11,HP:0001302,Pachygyria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021489,Orphanet,329329,ORPHA:329329,11,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021489,Orphanet,329329,ORPHA:329329,11,HP:0002069,Bilateral tonic-clonic seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0001258,Spastic paraplegia,Obligate (100%),TAS,,,,[PMID:22991237],y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0001288,Gait disturbance,Obligate (100%),TAS,,,,[PMID:22991237],y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0001308,Tongue fasciculations,Frequent (79-30%),TAS,,,,[PMID:22991237],y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0002064,Spastic gait,Obligate (100%),TAS,,,,[PMID:22991237],y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0002395,Lower limb hyperreflexia,Obligate (100%),TAS,,,,[PMID:22991237],y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,[PMID:22991237],y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,[PMID:22991237],y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,[PMID:22991237],y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0003155,Elevated circulating alkaline phosphatase concentration,Obligate (100%),TAS,,,,[PMID:22991237],y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0003324,Generalized muscle weakness,Obligate (100%),TAS,,,,[PMID:22991237],y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0003445,EMG: neuropathic changes,Obligate (100%),TAS,,,,[PMID:22991237],y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0003487,Babinski sign,Obligate (100%),TAS,,,,[PMID:22991237],y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0004563,Increased spinal bone density,Very frequent (99-80%),TAS,,,,[PMID:22991237],y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0007289,Limb fasciculations,Frequent (79-30%),TAS,,,,[PMID:22991237],y,y +GARD:0021491,Orphanet,329475,ORPHA:329475,15,HP:0011842,Abnormal skeletal morphology,Very frequent (99-80%),TAS,,,,[PMID:22991237],y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0000762,Decreased nerve conduction velocity,Occasional (29-5%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0001437,Abnormality of the musculature of the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0001638,Cardiomyopathy,Excluded (0%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0002344,Progressive neurologic deterioration,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0002460,Distal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0002792,Reduced vital capacity,Very rare (<4-1%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0003701,Proximal muscle weakness,Excluded (0%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0003805,Rimmed vacuoles,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0008954,Intrinsic hand muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0008978,Necrotizing myopathy,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0009005,Weakness of the intrinsic hand muscles,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021492,Orphanet,329478,ORPHA:329478,30,HP:0012548,Fatty replacement of skeletal muscle,Frequent (79-30%),TAS,,,,"[PMID:21684747, PMID:22040362, PMID:26105173, PMID:26574898]",y,y +GARD:0021499,Orphanet,329967,ORPHA:329967,5,HP:0000934,Chondrocalcinosis,Very rare (<4-1%),TAS,,,,"[PMID:15454124, PMID:16802374, PMID:17889261]",y,y +GARD:0021499,Orphanet,329967,ORPHA:329967,5,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,"[PMID:15454124, PMID:16802374, PMID:17889261]",y,y +GARD:0021499,Orphanet,329967,ORPHA:329967,5,HP:0002815,Abnormality of the knee,Frequent (79-30%),TAS,,,,"[PMID:15454124, PMID:16802374, PMID:17889261]",y,y +GARD:0021499,Orphanet,329967,ORPHA:329967,5,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:15454124, PMID:16802374, PMID:17889261]",y,y +GARD:0021499,Orphanet,329967,ORPHA:329967,5,HP:0045086,Knee joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:15454124, PMID:16802374, PMID:17889261]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0001635,Congestive heart failure,Very frequent (99-80%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0001639,Hypertrophic cardiomyopathy,Very frequent (99-80%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0001658,Myocardial infarction,Very frequent (99-80%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0002028,Chronic diarrhea,Frequent (79-30%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0002202,Pleural effusion,Very frequent (99-80%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0002254,Intermittent diarrhea,Frequent (79-30%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0002579,Gastrointestinal dysmotility,Frequent (79-30%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0002607,Bowel incontinence,Frequent (79-30%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0003115,Abnormal EKG,Very frequent (99-80%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0004926,Orthostatic hypotension due to autonomic dysfunction,Frequent (79-30%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0005341,Autonomic bladder dysfunction,Frequent (79-30%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0006530,Abnormal pulmonary interstitial morphology,Very frequent (99-80%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0010741,Pedal edema,Very frequent (99-80%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021501,Orphanet,330001,ORPHA:330001,24,HP:0100598,Pulmonary edema,Very frequent (99-80%),TAS,,,,"[PMID:14640042, PMID:15983293, PMID:1845299, PMID:2320592, PMID:23608605, PMID:7033114]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0000124,Renal tubular dysfunction,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0000140,Abnormality of the menstrual cycle,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0000735,Impaired social interactions,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0000789,Infertility,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0000798,Oligospermia,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0000823,Delayed puberty,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0001298,Encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0001970,Tubulointerstitial nephritis,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0002099,Asthma,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0002270,Abnormality of the autonomic nervous system,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0002715,Abnormality of the immune system,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0002750,Delayed skeletal maturation,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0002795,Abnormal respiratory system physiology,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0002843,Abnormal T cell morphology,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0003141,Increased LDL cholesterol concentration,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0003212,Increased circulating IgE level,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0003233,Decreased HDL cholesterol concentration,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0003474,Somatic sensory dysfunction,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0004437,Cranial hyperostosis,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0005368,Abnormality of humoral immunity,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0005560,Imbalanced hemoglobin synthesis,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0007015,Poor gross motor coordination,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0007178,Motor polyneuropathy,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0009830,Peripheral neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0012207,Reduced sperm motility,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0012622,Chronic kidney disease,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0012864,Abnormal sperm morphology,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0030018,Decreased female libido,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0031058,Impairment of activities of daily living,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0031429,Decreased circulating osteocalcin level,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0032155,Abdominal cramps,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0040306,Decreased male libido,Very rare (<4-1%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0100511,Abnormality of vitamin D metabolism,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0100512,Low levels of vitamin D,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0100602,Preeclampsia,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021503,Orphanet,330015,ORPHA:330015,62,HP:0100785,Insomnia,Occasional (29-5%),TAS,,,,"[PMID:27661040, PMID:27902665, PMID:29214886, PMID:30303719]",y,y +GARD:0021506,Orphanet,330064,ORPHA:330064,12,HP:0000964,Eczema,Very frequent (99-80%),TAS,,,,"[PMID:11843205, PMID:24891057, PMID:29530872, PMID:7944510]",y,y +GARD:0021506,Orphanet,330064,ORPHA:330064,12,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,"[PMID:11843205, PMID:24891057, PMID:29530872, PMID:7944510]",y,y +GARD:0021506,Orphanet,330064,ORPHA:330064,12,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,"[PMID:11843205, PMID:24891057, PMID:29530872, PMID:7944510]",y,y +GARD:0021506,Orphanet,330064,ORPHA:330064,12,HP:0001019,Erythroderma,Very rare (<4-1%),TAS,,,,"[PMID:11843205, PMID:24891057, PMID:29530872, PMID:7944510]",y,y +GARD:0021506,Orphanet,330064,ORPHA:330064,12,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,"[PMID:11843205, PMID:24891057, PMID:29530872, PMID:7944510]",y,y +GARD:0021506,Orphanet,330064,ORPHA:330064,12,HP:0003193,Allergic rhinitis,Very rare (<4-1%),TAS,,,,"[PMID:11843205, PMID:24891057, PMID:29530872, PMID:7944510]",y,y +GARD:0021506,Orphanet,330064,ORPHA:330064,12,HP:0007505,Progressive hyperpigmentation,Occasional (29-5%),TAS,,,,"[PMID:11843205, PMID:24891057, PMID:29530872, PMID:7944510]",y,y +GARD:0021506,Orphanet,330064,ORPHA:330064,12,HP:0007573,Late onset atopic dermatitis,Occasional (29-5%),TAS,,,,"[PMID:11843205, PMID:24891057, PMID:29530872, PMID:7944510]",y,y +GARD:0021506,Orphanet,330064,ORPHA:330064,12,HP:0025092,Epidermal acanthosis,Frequent (79-30%),TAS,,,,"[PMID:11843205, PMID:24891057, PMID:29530872, PMID:7944510]",y,y +GARD:0021506,Orphanet,330064,ORPHA:330064,12,HP:0025127,Actinic keratosis,Occasional (29-5%),TAS,,,,"[PMID:11843205, PMID:24891057, PMID:29530872, PMID:7944510]",y,y +GARD:0021506,Orphanet,330064,ORPHA:330064,12,HP:0030350,Erythematous papule,Frequent (79-30%),TAS,,,,"[PMID:11843205, PMID:24891057, PMID:29530872, PMID:7944510]",y,y +GARD:0021506,Orphanet,330064,ORPHA:330064,12,HP:0100725,Lichenification,Occasional (29-5%),TAS,,,,"[PMID:11843205, PMID:24891057, PMID:29530872, PMID:7944510]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0000341,Narrow forehead,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0000851,Congenital hypothyroidism,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0002047,Malignant hyperthermia,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0002079,Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0002265,Large fleshy ears,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0007052,Multifocal cerebral white matter abnormalities,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0007642,Congenital stationary night blindness,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0009891,Underdeveloped supraorbital ridges,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0011228,Horizontal eyebrow,Frequent (79-30%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021521,Orphanet,352530,ORPHA:352530,31,HP:0012443,Abnormality of brain morphology,Very frequent (99-80%),TAS,,,,"[PMID:20004765, PMID:22549410]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0000570,Abnormal saccadic eye movements,Frequent (79-30%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0001256,"Intellectual disability, mild",Very rare (<4-1%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0002078,Truncal ataxia,Very rare (<4-1%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0002166,Impaired vibration sensation in the lower limbs,Occasional (29-5%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0002346,Head tremor,Occasional (29-5%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0003693,Distal amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0004905,Low levels of vitamin A,Excluded (0%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0010831,Impaired proprioception,Frequent (79-30%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021525,Orphanet,352641,ORPHA:352641,26,HP:0100513,Low levels of vitamin E,Excluded (0%),TAS,,,,"[PMID:23332917, PMID:24252062]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000476,Cystic hygroma,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000586,Shallow orbits,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000587,Abnormality of the optic nerve,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000589,Coloboma,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000637,Long palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000689,Dental malocclusion,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001548,Overgrowth,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0001954,Recurrent fever,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002046,Heat intolerance,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002263,Exaggerated cupid's bow,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002282,Gray matter heterotopia,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002572,Episodic vomiting,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002579,Gastrointestinal dysmotility,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002711,Exaggerated median tongue furrow,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0002877,Nocturnal hypoventilation,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0003388,Easy fatigability,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0003763,Bruxism,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0004389,Intestinal pseudo-obstruction,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0004442,Sagittal craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0004443,Lambdoidal craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0004467,Preauricular pit,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0006481,Abnormality of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0007655,Eversion of lateral third of lower eyelids,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0009794,Branchial anomaly,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0009804,Tooth agenesis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0010297,Bifid tongue,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0010807,Open bite,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0010880,Increased nuchal translucency,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0011147,Typical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0011330,Metopic synostosis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0011807,Type 1 muscle fiber atrophy,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021526,Orphanet,352665,ORPHA:352665,90,HP:0100259,Postaxial polydactyly,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0000225,Gingival bleeding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0000421,Epistaxis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0001107,Ocular albinism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0001928,Abnormality of coagulation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,,y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0002311,Incoordination,Occasional (29-5%),TAS,,,,,y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0007513,Generalized hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,,y,y +GARD:0021527,Orphanet,352723,ORPHA:352723,15,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0000290,Abnormality of the forehead,Frequent (79-30%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0000519,Developmental cataract,Frequent (79-30%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0002171,Gliosis,Frequent (79-30%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0006889,"Intellectual disability, borderline",Frequent (79-30%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0006970,Periventricular leukomalacia,Frequent (79-30%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0010541,Cutis gyrata of scalp,Very frequent (99-80%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0010562,Keloids,Occasional (29-5%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021538,Orphanet,357225,ORPHA:357225,16,HP:0030455,Abnormality of pattern visual evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:16955199, PMID:17535195, PMID:30969634]",y,y +GARD:0021552,Orphanet,363549,ORPHA:363549,12,HP:0002069,Bilateral tonic-clonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:29725488, PMID:30327157, PMID:32001378, PMID:32829972]",y,y +GARD:0021552,Orphanet,363549,ORPHA:363549,12,HP:0007103,Hypointensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:29725488, PMID:30327157, PMID:32001378, PMID:32829972]",y,y +GARD:0021552,Orphanet,363549,ORPHA:363549,12,HP:0007185,Loss of consciousness,Frequent (79-30%),TAS,,,,"[PMID:29725488, PMID:30327157, PMID:32001378, PMID:32829972]",y,y +GARD:0021552,Orphanet,363549,ORPHA:363549,12,HP:0007738,Uncontrolled eye movements,Occasional (29-5%),TAS,,,,"[PMID:29725488, PMID:30327157, PMID:32001378, PMID:32829972]",y,y +GARD:0021552,Orphanet,363549,ORPHA:363549,12,HP:0011172,Complex febrile seizure,Frequent (79-30%),TAS,,,,"[PMID:29725488, PMID:30327157, PMID:32001378, PMID:32829972]",y,y +GARD:0021552,Orphanet,363549,ORPHA:363549,12,HP:0011665,Takotsubo cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:29725488, PMID:30327157, PMID:32001378, PMID:32829972]",y,y +GARD:0021552,Orphanet,363549,ORPHA:363549,12,HP:0012705,Abnormal metabolic brain imaging by MRS,Frequent (79-30%),TAS,,,,"[PMID:29725488, PMID:30327157, PMID:32001378, PMID:32829972]",y,y +GARD:0021552,Orphanet,363549,ORPHA:363549,12,HP:0031475,Status epilepticus without prominent motor symptoms,Occasional (29-5%),TAS,,,,"[PMID:29725488, PMID:30327157, PMID:32001378, PMID:32829972]",y,y +GARD:0021552,Orphanet,363549,ORPHA:363549,12,HP:0031691,Severe viral infection,Frequent (79-30%),TAS,,,,"[PMID:29725488, PMID:30327157, PMID:32001378, PMID:32829972]",y,y +GARD:0021552,Orphanet,363549,ORPHA:363549,12,HP:0032308,Increased circulating procalcitonin concentration,Frequent (79-30%),TAS,,,,"[PMID:29725488, PMID:30327157, PMID:32001378, PMID:32829972]",y,y +GARD:0021552,Orphanet,363549,ORPHA:363549,12,HP:0032894,Seizure precipitated by febrile infection,Frequent (79-30%),TAS,,,,"[PMID:29725488, PMID:30327157, PMID:32001378, PMID:32829972]",y,y +GARD:0021552,Orphanet,363549,ORPHA:363549,12,HP:0033349,Seizure cluster,Frequent (79-30%),TAS,,,,"[PMID:29725488, PMID:30327157, PMID:32001378, PMID:32829972]",y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0000561,Absent eyelashes,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0001635,Congestive heart failure,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0001650,Aortic valve stenosis,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0001653,Mitral regurgitation,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0001677,Coronary artery atherosclerosis,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0001714,Ventricular hypertrophy,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0002097,Emphysema,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0002170,Intracranial hemorrhage,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0002223,Absent eyebrow,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0002289,Alopecia universalis,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0002616,Aortic root aneurysm,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0002671,Basal cell carcinoma,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0003124,Hypercholesterolemia,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0004382,Mitral valve calcification,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0004414,Abnormality of the pulmonary artery,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0006739,Squamous cell carcinoma of the skin,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0006766,Papillary renal cell carcinoma,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0011040,Abnormality of the intrahepatic bile duct,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0012397,Aortic atherosclerotic lesion,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0030445,Pulmonary carcinoid tumor,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0100324,Scleroderma,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021555,Orphanet,363618,ORPHA:363618,27,HP:0100678,Premature skin wrinkling,Very frequent (99-80%),TAS,,,,[PMID:23666920],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000048,Bifid scrotum,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000190,Abnormal oral frenulum morphology,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000243,Trigonocephaly,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000422,Abnormal nasal bridge morphology,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0001377,Limited elbow extension,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0005487,Prominent metopic ridge,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0006191,Deep palmar crease,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0008846,Severe intrauterine growth retardation,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0009891,Underdeveloped supraorbital ridges,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0009894,Thickened ears,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0011003,High myopia,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0011825,Tented philtrum,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0031008,Lingual dystonia,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0100539,Periorbital edema,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,[PMID:23704076],y,y +GARD:0021556,Orphanet,363659,ORPHA:363659,53,HP:0200005,Abnormal shape of the palpebral fissure,Occasional (29-5%),TAS,,,,[PMID:23704076],y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000075,Renal duplication,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000447,Pear-shaped nose,Very frequent (99-80%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000748,Inappropriate laughter,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000824,Decreased response to growth hormone stimulation test,Very rare (<4-1%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0000968,Ectodermal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001028,Hemangioma,Very rare (<4-1%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001054,Numerous nevi,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001212,Prominent fingertip pads,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001533,Slender build,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001848,Calcaneovalgus deformity,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0002011,Morphological central nervous system abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0002286,Fair hair,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0002779,Tracheomalacia,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0002861,Melanoma,Very rare (<4-1%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0003302,Spondylolisthesis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0005216,Impaired mastication,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0005656,Positional foot deformity,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0006482,Abnormality of dental morphology,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0006813,Focal hemiclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0007099,Chiari type I malformation,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0008207,Primary adrenal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0008445,Cervical spinal canal stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0009130,Hand muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0009928,Thick nasal alae,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0010788,Testicular neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0010945,Fetal pyelectasis,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0011182,Interictal epileptiform activity,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0011185,EEG with focal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0011822,Broad chin,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0012433,Abnormal social behavior,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0012683,Pineal cyst,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0012699,Anomaly of lower limb diaphyses,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0025268,Stuttering,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0030746,Intraventricular hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0100025,Overfriendliness,Very frequent (99-80%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021559,Orphanet,363965,ORPHA:363965,124,HP:0100775,Dural ectasia,Occasional (29-5%),TAS,,,,"[PMID:20301783, PMID:26306646, PMID:26424144]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0000533,Chorioretinal atrophy,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0000543,Optic disc pallor,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0000546,Retinal degeneration,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0000550,Undetectable electroretinogram,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0000551,Color vision defect,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0000662,Nyctalopia,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0001103,Abnormal macular morphology,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0001116,Macular coloboma,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0002317,Unsteady gait,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0007695,Abnormal pupillary light reflex,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0007722,Retinal pigment epithelial atrophy,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0007737,Bone spicule pigmentation of the retina,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0007787,Posterior subcapsular cataract,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0007793,Granular macular appearance,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0007814,Retinal pigment epithelial mottling,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0007843,Attenuation of retinal blood vessels,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0007994,Peripheral visual field loss,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0011484,Posterior synechiae of the anterior chamber,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0011488,Abnormal corneal endothelium morphology,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0012230,Rhegmatogenous retinal detachment,Very rare (<4-1%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0012426,Optic disc drusen,Frequent (79-30%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021565,Orphanet,364055,ORPHA:364055,33,HP:0012434,Delayed social development,Occasional (29-5%),TAS,,,,"[PMID:20811047, PMID:28689169, PMID:30150358, PMID:32865313]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0002487,Hyperkinetic movements,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0005133,Right ventricular dilatation,Occasional (29-5%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0006785,Limb-girdle muscular dystrophy,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0009020,Exercise-induced muscle fatigue,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021579,Orphanet,369847,ORPHA:369847,20,HP:0009073,Progressive proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0001252,Hypotonia,Excluded (0%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0001952,Glucose intolerance,Occasional (29-5%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0002591,Polyphagia,Very frequent (99-80%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0004322,Short stature,Excluded (0%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0005307,Postural hypotension with compensatory tachycardia,Very frequent (99-80%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0011968,Feeding difficulties,Excluded (0%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0012332,Abnormal autonomic nervous system physiology,Very frequent (99-80%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0012339,Increased resting energy expenditure,Excluded (0%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0100503,Low levels of vitamin B1,Very frequent (99-80%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021580,Orphanet,369873,ORPHA:369873,17,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:10587584, PMID:23778136, PMID:23778139]",y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000179,Thick lower lip vermilion,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000444,Convex nasal ridge,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000483,Astigmatism,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000577,Exotropia,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000629,Periorbital fullness,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000646,Amblyopia,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000805,Enuresis,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0000964,Eczema,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0001051,Seborrheic dermatitis,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0001269,Hemiparesis,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0001634,Mitral valve prolapse,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0001716,Wolff-Parkinson-White syndrome,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0002003,Large forehead,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0002046,Heat intolerance,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0002136,Broad-based gait,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0011246,Underdeveloped superior crus of antihelix,Occasional (29-5%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0012680,Abnormality of the pineal gland,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021583,Orphanet,369950,ORPHA:369950,50,HP:0100703,Tongue thrusting,Very frequent (99-80%),TAS,,,,[PMID:23980137],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0000273,Facial grimacing,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0001965,Abnormal scalp morphology,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0003484,Upper limb muscle weakness,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0004602,Cervical C2/C3 vertebral fusion,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0009611,Bifid distal phalanx of the thumb,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0009644,Curved distal phalanx of the thumb,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0009648,Triangular shaped distal phalanx of the thumb,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0009650,Short distal phalanx of the thumb,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0009778,Short thumb,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0010041,Short 3rd metacarpal,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0010047,Short 5th metacarpal,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0010492,Osseous finger syndactyly,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0011822,Broad chin,Frequent (79-30%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0011939,3-4 finger cutaneous syndactyly,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0012553,Hypoplastic thumbnail,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0012713,Moderate hearing impairment,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,[PMID:23949889],y,y +GARD:0021585,Orphanet,370010,ORPHA:370010,34,HP:0025502,Overweight,Occasional (29-5%),TAS,,,,[PMID:23949889],y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0000885,Broad ribs,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0000894,Short clavicles,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0001027,"Soft, doughy skin",Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0001061,Acne,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0001956,Truncal obesity,Occasional (29-5%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0002673,Coxa valga,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0003015,Flared metaphysis,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0004482,Relative macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0100864,Short femoral neck,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021599,Orphanet,370930,ORPHA:370930,29,HP:0500011,Moon facies,Frequent (79-30%),TAS,,,,"[PMID:23982343, PMID:28484880]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000385,Small earlobe,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000417,Slender nose,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000709,Psychosis,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000712,Emotional lability,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000738,Hallucinations,Frequent (79-30%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000746,Delusions,Frequent (79-30%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0001519,Disproportionate tall stature,Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0007074,Thick corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021633,Orphanet,397695,ORPHA:397695,24,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:24133203, PMID:26117585]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0001891,Iron deficiency anemia,Frequent (79-30%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0001897,Normocytic anemia,Very rare (<4-1%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0001935,Microcytic anemia,Frequent (79-30%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0001972,Macrocytic anemia,Very rare (<4-1%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0002028,Chronic diarrhea,Frequent (79-30%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0002148,Hypophosphatemia,Occasional (29-5%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0002243,Protein-losing enteropathy,Occasional (29-5%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0002665,Lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0002853,Increased proportion of HLA DR+ T cells,Very frequent (99-80%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0002917,Hypomagnesemia,Occasional (29-5%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0003075,Hypoproteinemia,Frequent (79-30%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0004395,Malnutrition,Frequent (79-30%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0010639,Elevated alkaline phosphatase of bone origin,Occasional (29-5%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0011123,Inflammatory abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0011473,Villous atrophy,Obligate (100%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0012052,Low serum calcitriol,Occasional (29-5%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0025409,Abnormal spleen physiology,Occasional (29-5%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0030057,Autoimmune antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021640,Orphanet,398063,ORPHA:398063,28,HP:0033143,Jejunitis,Frequent (79-30%),TAS,,,,"[PMID:25925926, PMID:31297187, PMID:31331324]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000060,Clitoral hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000064,Hypoplastic labia minora,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000311,Round face,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000789,Infertility,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000818,Abnormality of the endocrine system,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0002871,Central apnea,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0003241,External genital hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0005599,Hypopigmentation of hair,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0006889,"Intellectual disability, borderline",Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0007730,Iris hypopigmentation,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0007874,Almond-shaped palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0010627,Anterior pituitary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0011734,Central adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0011787,Central hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0012104,Parietal cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0012105,Occipital cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0012166,Skin-picking,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0012411,Premature pubarche,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0012412,Premature adrenarche,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0012650,Perisylvian polymicrogyria,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0025160,Abnormal temper tantrums,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0030339,Decreased circulating gonadotropin concentration,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0031100,Decreased inhibin B level,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0031169,Postterm pregnancy,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0031507,Decreased circulating T4 level,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0045025,Narrow palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0100739,Bulimia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021641,Orphanet,398073,ORPHA:398073,77,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:24737477, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000060,Clitoral hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000064,Hypoplastic labia minora,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000217,Xerostomia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000446,Narrow nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000789,Infertility,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0001612,Weak cry,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0002494,Abnormal rapid eye movement sleep,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0003241,External genital hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0005599,Hypopigmentation of hair,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0007874,Almond-shaped palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0008197,Absence of pubertal development,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0010536,Central sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0011787,Central hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0012166,Skin-picking,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0012287,Hypothalamic luteinizing hormone-releasing hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0012411,Premature pubarche,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0012412,Premature adrenarche,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0012506,Small pituitary gland,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0012743,Abdominal obesity,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0025160,Abnormal temper tantrums,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0025237,Confusional arousal,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0040030,Chorioretinal hypopigmentation,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0040288,Nasogastric tube feeding,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021642,Orphanet,398079,ORPHA:398079,64,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:23778136, PMID:27777904]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0000256,Macrocephaly,Very rare (<4-1%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0000951,Abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0000992,Cutaneous photosensitivity,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001036,Parakeratosis,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001392,Abnormality of the liver,Frequent (79-30%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001396,Cholestasis,Excluded (0%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001657,Prolonged QT interval,Very rare (<4-1%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001678,Atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001744,Splenomegaly,Very rare (<4-1%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001871,Abnormality of blood and blood-forming tissues,Frequent (79-30%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001876,Pancytopenia,Very rare (<4-1%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001878,Hemolytic anemia,Very rare (<4-1%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001892,Abnormal bleeding,Very rare (<4-1%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0001915,Aplastic anemia,Very rare (<4-1%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0002086,Abnormality of the respiratory system,Very rare (<4-1%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0002135,Basal ganglia calcification,Very rare (<4-1%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0002652,Skeletal dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0011702,Abnormal electrophysiology of sinoatrial node origin,Very rare (<4-1%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0012722,Heart block,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0025300,Malar rash,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0025474,Erythematous plaque,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0030057,Autoimmune antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021647,Orphanet,398124,ORPHA:398124,36,HP:0040186,Maculopapular exanthema,Occasional (29-5%),TAS,,,,"[PMID:20696019, PMID:25240481, PMID:29116459, PMID:3058253, PMID:31112454]",y,y +GARD:0021649,Orphanet,398147,ORPHA:398147,12,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,"[PMID:28251523, PMID:28425324, PMID:32992770]",y,y +GARD:0021649,Orphanet,398147,ORPHA:398147,12,HP:0000707,Abnormality of the nervous system,Excluded (0%),TAS,,,,"[PMID:28251523, PMID:28425324, PMID:32992770]",y,y +GARD:0021649,Orphanet,398147,ORPHA:398147,12,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:28251523, PMID:28425324, PMID:32992770]",y,y +GARD:0021649,Orphanet,398147,ORPHA:398147,12,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:28251523, PMID:28425324, PMID:32992770]",y,y +GARD:0021649,Orphanet,398147,ORPHA:398147,12,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:28251523, PMID:28425324, PMID:32992770]",y,y +GARD:0021649,Orphanet,398147,ORPHA:398147,12,HP:0003474,Somatic sensory dysfunction,Very rare (<4-1%),TAS,,,,"[PMID:28251523, PMID:28425324, PMID:32992770]",y,y +GARD:0021649,Orphanet,398147,ORPHA:398147,12,HP:0003489,Acute episodes of neuropathic symptoms,Occasional (29-5%),TAS,,,,"[PMID:28251523, PMID:28425324, PMID:32992770]",y,y +GARD:0021649,Orphanet,398147,ORPHA:398147,12,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,"[PMID:28251523, PMID:28425324, PMID:32992770]",y,y +GARD:0021649,Orphanet,398147,ORPHA:398147,12,HP:0012332,Abnormal autonomic nervous system physiology,Excluded (0%),TAS,,,,"[PMID:28251523, PMID:28425324, PMID:32992770]",y,y +GARD:0021649,Orphanet,398147,ORPHA:398147,12,HP:0012532,Chronic pain,Very frequent (99-80%),TAS,,,,"[PMID:28251523, PMID:28425324, PMID:32992770]",y,y +GARD:0021649,Orphanet,398147,ORPHA:398147,12,HP:0025282,Dull,Frequent (79-30%),TAS,,,,"[PMID:28251523, PMID:28425324, PMID:32992770]",y,y +GARD:0021649,Orphanet,398147,ORPHA:398147,12,HP:0032143,Burning mouth,Occasional (29-5%),TAS,,,,"[PMID:28251523, PMID:28425324, PMID:32992770]",y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0001430,Abnormality of the calf musculature,Frequent (79-30%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0002936,Distal sensory impairment,Very frequent (99-80%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0003376,Steppage gait,Frequent (79-30%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0003438,Absent Achilles reflex,Occasional (29-5%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0003458,EMG: myopathic abnormalities,Very frequent (99-80%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0003477,Peripheral axonal neuropathy,Very rare (<4-1%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0006466,Ankle flexion contracture,Very frequent (99-80%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0006844,Absent patellar reflexes,Frequent (79-30%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0006937,Impaired distal tactile sensation,Frequent (79-30%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0006957,Loss of ability to walk,Very rare (<4-1%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0008954,Intrinsic hand muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0009005,Weakness of the intrinsic hand muscles,Very frequent (99-80%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0009031,Amyotrophy of ankle musculature,Frequent (79-30%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0009063,Progressive distal muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:20554658],y,y +GARD:0021655,Orphanet,399081,ORPHA:399081,17,HP:0040081,Abnormal circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,[PMID:20554658],y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0001533,Slender build,Occasional (29-5%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0001638,Cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0002875,Exertional dyspnea,Occasional (29-5%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0003722,Neck flexor weakness,Frequent (79-30%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0003798,Nemaline bodies,Frequent (79-30%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0006466,Ankle flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0009005,Weakness of the intrinsic hand muscles,Frequent (79-30%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0009063,Progressive distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0009073,Progressive proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0009077,Weakness of long finger extensor muscles,Frequent (79-30%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0012036,Sternocleidomastoid amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0012548,Fatty replacement of skeletal muscle,Occasional (29-5%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021656,Orphanet,399103,ORPHA:399103,16,HP:0030319,Weakness of facial musculature,Occasional (29-5%),TAS,,,,"[PMID:17525139, PMID:23443021, PMID:25205138]",y,y +GARD:0021661,Orphanet,399180,ORPHA:399180,13,HP:0001370,Rheumatoid arthritis,Occasional (29-5%),TAS,,,,"[PMID:18524806, PMID:19294340, PMID:3768054, PMID:8235665, PMID:9779852]",y,y +GARD:0021661,Orphanet,399180,ORPHA:399180,13,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:18524806, PMID:19294340, PMID:3768054, PMID:8235665, PMID:9779852]",y,y +GARD:0021661,Orphanet,399180,ORPHA:399180,13,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:18524806, PMID:19294340, PMID:3768054, PMID:8235665, PMID:9779852]",y,y +GARD:0021661,Orphanet,399180,ORPHA:399180,13,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,"[PMID:18524806, PMID:19294340, PMID:3768054, PMID:8235665, PMID:9779852]",y,y +GARD:0021661,Orphanet,399180,ORPHA:399180,13,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:18524806, PMID:19294340, PMID:3768054, PMID:8235665, PMID:9779852]",y,y +GARD:0021661,Orphanet,399180,ORPHA:399180,13,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:18524806, PMID:19294340, PMID:3768054, PMID:8235665, PMID:9779852]",y,y +GARD:0021661,Orphanet,399180,ORPHA:399180,13,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:18524806, PMID:19294340, PMID:3768054, PMID:8235665, PMID:9779852]",y,y +GARD:0021661,Orphanet,399180,ORPHA:399180,13,HP:0003549,Abnormality of connective tissue,Occasional (29-5%),TAS,,,,"[PMID:18524806, PMID:19294340, PMID:3768054, PMID:8235665, PMID:9779852]",y,y +GARD:0021661,Orphanet,399180,ORPHA:399180,13,HP:0004377,Hematological neoplasm,Occasional (29-5%),TAS,,,,"[PMID:18524806, PMID:19294340, PMID:3768054, PMID:8235665, PMID:9779852]",y,y +GARD:0021661,Orphanet,399180,ORPHA:399180,13,HP:0010885,Avascular necrosis,Very frequent (99-80%),TAS,,,,"[PMID:18524806, PMID:19294340, PMID:3768054, PMID:8235665, PMID:9779852]",y,y +GARD:0021661,Orphanet,399180,ORPHA:399180,13,HP:0030955,Alcoholism,Frequent (79-30%),TAS,,,,"[PMID:18524806, PMID:19294340, PMID:3768054, PMID:8235665, PMID:9779852]",y,y +GARD:0021661,Orphanet,399180,ORPHA:399180,13,HP:0031520,Groin pain,Occasional (29-5%),TAS,,,,"[PMID:18524806, PMID:19294340, PMID:3768054, PMID:8235665, PMID:9779852]",y,y +GARD:0021661,Orphanet,399180,ORPHA:399180,13,HP:0100724,Hypercoagulability,Very rare (<4-1%),TAS,,,,"[PMID:18524806, PMID:19294340, PMID:3768054, PMID:8235665, PMID:9779852]",y,y +GARD:0021695,Orphanet,401795,ORPHA:401795,11,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021695,Orphanet,401795,ORPHA:401795,11,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021695,Orphanet,401795,ORPHA:401795,11,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021695,Orphanet,401795,ORPHA:401795,11,HP:0001317,Abnormal cerebellum morphology,Excluded (0%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021695,Orphanet,401795,ORPHA:401795,11,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021695,Orphanet,401795,ORPHA:401795,11,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021695,Orphanet,401795,ORPHA:401795,11,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021695,Orphanet,401795,ORPHA:401795,11,HP:0002169,Clonus,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021695,Orphanet,401795,ORPHA:401795,11,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021695,Orphanet,401795,ORPHA:401795,11,HP:0002500,Abnormal cerebral white matter morphology,Excluded (0%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021695,Orphanet,401795,ORPHA:401795,11,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021696,Orphanet,401800,ORPHA:401800,9,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021696,Orphanet,401800,ORPHA:401800,9,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021696,Orphanet,401800,ORPHA:401800,9,HP:0001258,Spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021696,Orphanet,401800,ORPHA:401800,9,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021696,Orphanet,401800,ORPHA:401800,9,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021696,Orphanet,401800,ORPHA:401800,9,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021696,Orphanet,401800,ORPHA:401800,9,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021696,Orphanet,401800,ORPHA:401800,9,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021696,Orphanet,401800,ORPHA:401800,9,HP:0007002,Motor axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021697,Orphanet,401815,ORPHA:401815,14,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021697,Orphanet,401815,ORPHA:401815,14,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021697,Orphanet,401815,ORPHA:401815,14,HP:0001301,Chronic sensorineural polyneuropathy,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021697,Orphanet,401815,ORPHA:401815,14,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021697,Orphanet,401815,ORPHA:401815,14,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021697,Orphanet,401815,ORPHA:401815,14,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021697,Orphanet,401815,ORPHA:401815,14,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021697,Orphanet,401815,ORPHA:401815,14,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021697,Orphanet,401815,ORPHA:401815,14,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021697,Orphanet,401815,ORPHA:401815,14,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021697,Orphanet,401815,ORPHA:401815,14,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021697,Orphanet,401815,ORPHA:401815,14,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021697,Orphanet,401815,ORPHA:401815,14,HP:0007210,Lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021697,Orphanet,401815,ORPHA:401815,14,HP:0030048,Colpocephaly,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0003700,Generalized amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0006817,Aplasia/Hypoplasia of the cerebellar vermis,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0012447,Abnormal myelination,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021698,Orphanet,401820,ORPHA:401820,15,HP:0200085,Limb tremor,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021699,Orphanet,401830,ORPHA:401830,13,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021699,Orphanet,401830,ORPHA:401830,13,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021699,Orphanet,401830,ORPHA:401830,13,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021699,Orphanet,401830,ORPHA:401830,13,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021699,Orphanet,401830,ORPHA:401830,13,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021699,Orphanet,401830,ORPHA:401830,13,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021699,Orphanet,401830,ORPHA:401830,13,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021699,Orphanet,401830,ORPHA:401830,13,HP:0002378,Hand tremor,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021699,Orphanet,401830,ORPHA:401830,13,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021699,Orphanet,401830,ORPHA:401830,13,HP:0006817,Aplasia/Hypoplasia of the cerebellar vermis,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021699,Orphanet,401830,ORPHA:401830,13,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021699,Orphanet,401830,ORPHA:401830,13,HP:0012447,Abnormal myelination,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021699,Orphanet,401830,ORPHA:401830,13,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021700,Orphanet,401835,ORPHA:401835,10,HP:0000100,Nephrotic syndrome,Very rare (<4-1%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021700,Orphanet,401835,ORPHA:401835,10,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021700,Orphanet,401835,ORPHA:401835,10,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021700,Orphanet,401835,ORPHA:401835,10,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021700,Orphanet,401835,ORPHA:401835,10,HP:0002378,Hand tremor,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021700,Orphanet,401835,ORPHA:401835,10,HP:0006530,Abnormal pulmonary interstitial morphology,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021700,Orphanet,401835,ORPHA:401835,10,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021700,Orphanet,401835,ORPHA:401835,10,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021700,Orphanet,401835,ORPHA:401835,10,HP:0012447,Abnormal myelination,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021700,Orphanet,401835,ORPHA:401835,10,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021701,Orphanet,401840,ORPHA:401840,13,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021701,Orphanet,401840,ORPHA:401840,13,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021701,Orphanet,401840,ORPHA:401840,13,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021701,Orphanet,401840,ORPHA:401840,13,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021701,Orphanet,401840,ORPHA:401840,13,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021701,Orphanet,401840,ORPHA:401840,13,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021701,Orphanet,401840,ORPHA:401840,13,HP:0002378,Hand tremor,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021701,Orphanet,401840,ORPHA:401840,13,HP:0003457,EMG abnormality,Excluded (0%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021701,Orphanet,401840,ORPHA:401840,13,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021701,Orphanet,401840,ORPHA:401840,13,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021701,Orphanet,401840,ORPHA:401840,13,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021701,Orphanet,401840,ORPHA:401840,13,HP:0012447,Abnormal myelination,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021701,Orphanet,401840,ORPHA:401840,13,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:24482476, PMID:24954637, PMID:27217339, PMID:27271711]",y,y +GARD:0021702,Orphanet,401901,ORPHA:401901,14,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:23934648, PMID:25248608]",y,y +GARD:0021702,Orphanet,401901,ORPHA:401901,14,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:23934648, PMID:25248608]",y,y +GARD:0021702,Orphanet,401901,ORPHA:401901,14,HP:0000719,Inappropriate behavior,Frequent (79-30%),TAS,,,,"[PMID:23934648, PMID:25248608]",y,y +GARD:0021702,Orphanet,401901,ORPHA:401901,14,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:23934648, PMID:25248608]",y,y +GARD:0021702,Orphanet,401901,ORPHA:401901,14,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:23934648, PMID:25248608]",y,y +GARD:0021702,Orphanet,401901,ORPHA:401901,14,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:23934648, PMID:25248608]",y,y +GARD:0021702,Orphanet,401901,ORPHA:401901,14,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:23934648, PMID:25248608]",y,y +GARD:0021702,Orphanet,401901,ORPHA:401901,14,HP:0001336,Myoclonus,Very rare (<4-1%),TAS,,,,"[PMID:23934648, PMID:25248608]",y,y +GARD:0021702,Orphanet,401901,ORPHA:401901,14,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:23934648, PMID:25248608]",y,y +GARD:0021702,Orphanet,401901,ORPHA:401901,14,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:23934648, PMID:25248608]",y,y +GARD:0021702,Orphanet,401901,ORPHA:401901,14,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:23934648, PMID:25248608]",y,y +GARD:0021702,Orphanet,401901,ORPHA:401901,14,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:23934648, PMID:25248608]",y,y +GARD:0021702,Orphanet,401901,ORPHA:401901,14,HP:0002493,Upper motor neuron dysfunction,Occasional (29-5%),TAS,,,,"[PMID:23934648, PMID:25248608]",y,y +GARD:0021702,Orphanet,401901,ORPHA:401901,14,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:23934648, PMID:25248608]",y,y +GARD:0021703,Orphanet,401911,ORPHA:401911,7,HP:0000968,Ectodermal dysplasia,Excluded (0%),TAS,,,,"[PMID:11017067, PMID:23838596]",y,y +GARD:0021703,Orphanet,401911,ORPHA:401911,7,HP:0003003,Colon cancer,Occasional (29-5%),TAS,,,,"[PMID:11017067, PMID:23838596]",y,y +GARD:0021703,Orphanet,401911,ORPHA:401911,7,HP:0005227,Adenomatous colonic polyposis,Frequent (79-30%),TAS,,,,"[PMID:11017067, PMID:23838596]",y,y +GARD:0021703,Orphanet,401911,ORPHA:401911,7,HP:0008070,Sparse hair,Excluded (0%),TAS,,,,"[PMID:11017067, PMID:23838596]",y,y +GARD:0021703,Orphanet,401911,ORPHA:401911,7,HP:0100743,Neoplasm of the rectum,Occasional (29-5%),TAS,,,,"[PMID:11017067, PMID:23838596]",y,y +GARD:0021703,Orphanet,401911,ORPHA:401911,7,HP:0200063,Colorectal polyposis,Frequent (79-30%),TAS,,,,"[PMID:11017067, PMID:23838596]",y,y +GARD:0021703,Orphanet,401911,ORPHA:401911,7,HP:3000050,Abnormal odontoid tissue morphology,Excluded (0%),TAS,,,,"[PMID:11017067, PMID:23838596]",y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0000894,Short clavicles,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0001644,Dilated cardiomyopathy,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0001647,Bicuspid aortic valve,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0001659,Aortic regurgitation,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0002947,Cervical kyphosis,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0003124,Hypercholesterolemia,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0005978,Type II diabetes mellitus,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0011342,Mild global developmental delay,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0011822,Broad chin,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0025502,Overweight,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0100817,Renovascular hypertension,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0100874,Thick hair,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021705,Orphanet,401923,ORPHA:401923,22,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,[PMID:24376033],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0001660,Truncus arteriosus,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0003083,Dislocated radial head,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0004935,Pulmonary artery atresia,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0005852,Limited elbow extension and supination,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0009778,Short thumb,Frequent (79-30%),TAS,,,,[PMID:24357125],y,y +GARD:0021706,Orphanet,401935,ORPHA:401935,24,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,[PMID:24357125],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0000608,Macular degeneration,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0001159,Syndactyly,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0001285,Spastic tetraparesis,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0002200,Pseudobulbar signs,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0003396,Syringomyelia,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0007030,Nonprogressive encephalopathy,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0008780,Congenital bilateral hip dislocation,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0011506,Choroidal neovascularization,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0012469,Infantile spasms,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021717,Orphanet,404451,ORPHA:404451,18,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,[PMID:24084572],y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0000748,Inappropriate laughter,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0002046,Heat intolerance,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0004485,Cessation of head growth,Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0005469,Flat occiput,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0005484,Secondary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0010808,Protruding tongue,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0040082,Happy demeanor,Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0040196,Mild microcephaly,Frequent (79-30%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0100023,Recurrent hand flapping,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0100703,Tongue thrusting,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021732,Orphanet,411511,ORPHA:411511,34,HP:0100738,Abnormal eating behavior,Occasional (29-5%),TAS,,,,"[PMID:12566516, PMID:20301323]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0000710,Hyperorality,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0000748,Inappropriate laughter,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0004485,Cessation of head growth,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0006979,Sleep-wake cycle disturbance,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0040082,Happy demeanor,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021733,Orphanet,411515,ORPHA:411515,27,HP:0410263,Brain imaging abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:26040994, PMID:28211971]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0000608,Macular degeneration,Occasional (29-5%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0001085,Papilledema,Frequent (79-30%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0001129,Large central visual field defect,Occasional (29-5%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0004328,Abnormal anterior eye segment morphology,Occasional (29-5%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0007984,Electronegative electroretinogram,Occasional (29-5%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0011505,Cystoid macular edema,Very frequent (99-80%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0012841,Retinal vascular tortuosity,Frequent (79-30%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0030497,Macular cotton wool spot,Very frequent (99-80%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0030666,Retinal neovascularization,Occasional (29-5%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0031805,Intraretinal hemorrhage,Very frequent (99-80%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0040049,Macular edema,Frequent (79-30%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021734,Orphanet,411527,ORPHA:411527,16,HP:0100014,Epiretinal membrane,Occasional (29-5%),TAS,,,,"[PMID:22003973, PMID:27879054]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0001025,Urticaria,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0001047,Atopic dermatitis,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0002032,Esophageal atresia,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0003193,Allergic rhinitis,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0004789,Lactose intolerance,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0010450,Esophageal stenosis,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0030914,Abnormal peristalsis,Frequent (79-30%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0031858,Esophageal furrows,Frequent (79-30%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0031984,Esophageal food impaction,Frequent (79-30%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0031985,Esophageal exudate,Frequent (79-30%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0100633,Esophagitis,Very frequent (99-80%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0410019,Epigastric pain,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0410151,Eosinophilic infiltration of the esophagus,Very frequent (99-80%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0410152,Eosinophilic microabscess formation in the esophagus,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0410227,Increased anti-food allergen IgE antibody level,Frequent (79-30%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0410328,Egg allergy,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0500093,Food allergy,Frequent (79-30%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021735,Orphanet,411696,ORPHA:411696,29,HP:0500095,Food-induced anaphylaxis,Occasional (29-5%),TAS,,,,"[PMID:25603329, PMID:26247167, PMID:30075121, PMID:30827775]",y,y +GARD:0021736,Orphanet,411777,ORPHA:411777,8,HP:0000481,Abnormal cornea morphology,Occasional (29-5%),TAS,,,,[PMID:14594609],y,y +GARD:0021736,Orphanet,411777,ORPHA:411777,8,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,[PMID:14594609],y,y +GARD:0021736,Orphanet,411777,ORPHA:411777,8,HP:0000656,Ectropion,Frequent (79-30%),TAS,,,,[PMID:14594609],y,y +GARD:0021736,Orphanet,411777,ORPHA:411777,8,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,[PMID:14594609],y,y +GARD:0021736,Orphanet,411777,ORPHA:411777,8,HP:0001097,Keratoconjunctivitis sicca,Occasional (29-5%),TAS,,,,[PMID:14594609],y,y +GARD:0021736,Orphanet,411777,ORPHA:411777,8,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,[PMID:14594609],y,y +GARD:0021736,Orphanet,411777,ORPHA:411777,8,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:14594609],y,y +GARD:0021736,Orphanet,411777,ORPHA:411777,8,HP:0200034,Papule,Frequent (79-30%),TAS,,,,[PMID:14594609],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0000389,Chronic otitis media,Occasional (29-5%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0000677,Oligodontia,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0000742,Self-mutilation,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0001047,Atopic dermatitis,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0010763,Low insertion of columella,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0012385,Camptodactyly,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0012393,Allergy,Occasional (29-5%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0012724,Upper eyelid edema,Frequent (79-30%),TAS,,,,[PMID:24664804],y,y +GARD:0021737,Orphanet,412035,ORPHA:412035,30,HP:0200053,Hemihypotrophy of lower limb,Occasional (29-5%),TAS,,,,[PMID:24664804],y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0000719,Inappropriate behavior,Very frequent (99-80%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0000726,Dementia,Obligate (100%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0002145,Frontotemporal dementia,Very frequent (99-80%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0002333,Motor deterioration,Very frequent (99-80%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0002362,Shuffling gait,Frequent (79-30%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0002463,Language impairment,Frequent (79-30%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0002503,Spinocerebellar tract degeneration,Excluded (0%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0002506,Diffuse cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0002527,Falls,Frequent (79-30%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0006892,Frontotemporal cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0007311,Short stepped shuffling gait,Frequent (79-30%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0007373,Motor neuron atrophy,Excluded (0%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0010794,Impaired visuospatial constructive cognition,Frequent (79-30%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0012757,Abnormal neuron morphology,Very frequent (99-80%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021738,Orphanet,412066,ORPHA:412066,23,HP:0030216,Inertia,Frequent (79-30%),TAS,,,,"[PMID:24722252, PMID:25108559, PMID:25414037]",y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0000183,Difficulty in tongue movements,Very frequent (99-80%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0002425,Anarthria,Frequent (79-30%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0005216,Impaired mastication,Very frequent (99-80%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0007325,Generalized dystonia,Very frequent (99-80%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0007327,Mixed demyelinating and axonal polyneuropathy,Frequent (79-30%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0007885,Slowed horizontal saccades,Frequent (79-30%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0008777,Abnormal vocal cord morphology,Frequent (79-30%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0012048,Oromandibular dystonia,Frequent (79-30%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0012087,Abnormal mitochondrial shape,Frequent (79-30%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0012088,Abnormal urinary odor,Frequent (79-30%),TAS,,,,[PMID:24359844],y,y +GARD:0021739,Orphanet,412217,ORPHA:412217,24,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,[PMID:24359844],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0000943,Dysostosis multiplex,Obligate (100%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0001252,Hypotonia,Obligate (100%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0001338,Partial agenesis of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0001799,Short nail,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0002370,Poor coordination,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0002656,Epiphyseal dysplasia,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0005792,Short humerus,Occasional (29-5%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0006385,Short lower limbs,Occasional (29-5%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0008093,Short 4th toe,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0010230,Cone-shaped epiphyses of the phalanges of the hand,Very frequent (99-80%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,[PMID:24975242],y,y +GARD:0021750,Orphanet,420794,ORPHA:420794,26,HP:0012537,Food intolerance,Occasional (29-5%),TAS,,,,[PMID:24975242],y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0000543,Optic disc pallor,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0000556,Retinal dystrophy,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0000577,Exotropia,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0000873,Diabetes insipidus,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0001116,Macular coloboma,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0001285,Spastic tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0001525,Severe failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0002187,"Intellectual disability, profound",Very frequent (99-80%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0004639,Elevated amniotic fluid alpha-fetoprotein,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0006579,Prolonged neonatal jaundice,Occasional (29-5%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0006801,Hyperactive deep tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0007965,Undetectable visual evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0008058,Aplasia/Hypoplasia of the optic nerve,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0010536,Central sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0011471,Gastrostomy tube feeding in infancy,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0011903,HbH hemoglobin,Excluded (0%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0012736,Profound global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0030211,Slow pupillary light response,Frequent (79-30%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0030921,5-minute APGAR score of 1,Occasional (29-5%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021752,Orphanet,423479,ORPHA:423479,35,HP:0030927,1-minute APGAR score of 0,Occasional (29-5%),TAS,,,,"[PMID:24961627, PMID:26089585]",y,y +GARD:0021773,Orphanet,424016,ORPHA:424016,12,HP:0002025,Anal stenosis,Very frequent (99-80%),TAS,,,,"[PMID:10223561, PMID:19702687, PMID:23809885, PMID:24705191, PMID:25544486, PMID:27510691]",y,y +GARD:0021773,Orphanet,424016,ORPHA:424016,12,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:10223561, PMID:19702687, PMID:23809885, PMID:24705191, PMID:25544486, PMID:27510691]",y,y +GARD:0021773,Orphanet,424016,ORPHA:424016,12,HP:0002035,Rectal prolapse,Occasional (29-5%),TAS,,,,"[PMID:10223561, PMID:19702687, PMID:23809885, PMID:24705191, PMID:25544486, PMID:27510691]",y,y +GARD:0021773,Orphanet,424016,ORPHA:424016,12,HP:0002584,Intestinal bleeding,Very frequent (99-80%),TAS,,,,"[PMID:10223561, PMID:19702687, PMID:23809885, PMID:24705191, PMID:25544486, PMID:27510691]",y,y +GARD:0021773,Orphanet,424016,ORPHA:424016,12,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,"[PMID:10223561, PMID:19702687, PMID:23809885, PMID:24705191, PMID:25544486, PMID:27510691]",y,y +GARD:0021773,Orphanet,424016,ORPHA:424016,12,HP:0002896,Neoplasm of the liver,Frequent (79-30%),TAS,,,,"[PMID:10223561, PMID:19702687, PMID:23809885, PMID:24705191, PMID:25544486, PMID:27510691]",y,y +GARD:0021773,Orphanet,424016,ORPHA:424016,12,HP:0010622,Neoplasm of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:10223561, PMID:19702687, PMID:23809885, PMID:24705191, PMID:25544486, PMID:27510691]",y,y +GARD:0021773,Orphanet,424016,ORPHA:424016,12,HP:0012432,Chronic fatigue,Frequent (79-30%),TAS,,,,"[PMID:10223561, PMID:19702687, PMID:23809885, PMID:24705191, PMID:25544486, PMID:27510691]",y,y +GARD:0021773,Orphanet,424016,ORPHA:424016,12,HP:0030439,Anal canal adenocarcinoma,Obligate (100%),TAS,,,,"[PMID:10223561, PMID:19702687, PMID:23809885, PMID:24705191, PMID:25544486, PMID:27510691]",y,y +GARD:0021773,Orphanet,424016,ORPHA:424016,12,HP:0100526,Neoplasm of the lung,Frequent (79-30%),TAS,,,,"[PMID:10223561, PMID:19702687, PMID:23809885, PMID:24705191, PMID:25544486, PMID:27510691]",y,y +GARD:0021773,Orphanet,424016,ORPHA:424016,12,HP:0100743,Neoplasm of the rectum,Occasional (29-5%),TAS,,,,"[PMID:10223561, PMID:19702687, PMID:23809885, PMID:24705191, PMID:25544486, PMID:27510691]",y,y +GARD:0021773,Orphanet,424016,ORPHA:424016,12,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:10223561, PMID:19702687, PMID:23809885, PMID:24705191, PMID:25544486, PMID:27510691]",y,y +GARD:0021774,Orphanet,424019,ORPHA:424019,12,HP:0002025,Anal stenosis,Occasional (29-5%),TAS,,,,"[PMID:21043813, PMID:26602415, PMID:26988618]",y,y +GARD:0021774,Orphanet,424019,ORPHA:424019,12,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:21043813, PMID:26602415, PMID:26988618]",y,y +GARD:0021774,Orphanet,424019,ORPHA:424019,12,HP:0002035,Rectal prolapse,Occasional (29-5%),TAS,,,,"[PMID:21043813, PMID:26602415, PMID:26988618]",y,y +GARD:0021774,Orphanet,424019,ORPHA:424019,12,HP:0002584,Intestinal bleeding,Very frequent (99-80%),TAS,,,,"[PMID:21043813, PMID:26602415, PMID:26988618]",y,y +GARD:0021774,Orphanet,424019,ORPHA:424019,12,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,"[PMID:21043813, PMID:26602415, PMID:26988618]",y,y +GARD:0021774,Orphanet,424019,ORPHA:424019,12,HP:0002896,Neoplasm of the liver,Occasional (29-5%),TAS,,,,"[PMID:21043813, PMID:26602415, PMID:26988618]",y,y +GARD:0021774,Orphanet,424019,ORPHA:424019,12,HP:0010622,Neoplasm of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:21043813, PMID:26602415, PMID:26988618]",y,y +GARD:0021774,Orphanet,424019,ORPHA:424019,12,HP:0012740,Papilloma,Very frequent (99-80%),TAS,,,,"[PMID:21043813, PMID:26602415, PMID:26988618]",y,y +GARD:0021774,Orphanet,424019,ORPHA:424019,12,HP:0030438,Anal canal squamous cell carcinoma,Obligate (100%),TAS,,,,"[PMID:21043813, PMID:26602415, PMID:26988618]",y,y +GARD:0021774,Orphanet,424019,ORPHA:424019,12,HP:0100526,Neoplasm of the lung,Occasional (29-5%),TAS,,,,"[PMID:21043813, PMID:26602415, PMID:26988618]",y,y +GARD:0021774,Orphanet,424019,ORPHA:424019,12,HP:0100743,Neoplasm of the rectum,Occasional (29-5%),TAS,,,,"[PMID:21043813, PMID:26602415, PMID:26988618]",y,y +GARD:0021774,Orphanet,424019,ORPHA:424019,12,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:21043813, PMID:26602415, PMID:26988618]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0000602,Ophthalmoplegia,Very rare (<4-1%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0002047,Malignant hyperthermia,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0002058,Myopathic facies,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0002747,Respiratory insufficiency due to muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0003201,Rhabdomyolysis,Excluded (0%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0003236,Elevated circulating creatine kinase concentration,Excluded (0%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0003473,Fatigable weakness,Very frequent (99-80%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0003789,Minicore myopathy,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0003803,Type 1 muscle fiber predominance,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0009062,Infantile axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021783,Orphanet,424107,ORPHA:424107,25,HP:0040191,Rectus femoris muscle atrophy,Excluded (0%),TAS,,,,"[PMID:21482111, PMID:24951453, PMID:29556213]",y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000356,Abnormality of the outer ear,Frequent (79-30%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0001233,2-3 finger syndactyly,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0001677,Coronary artery atherosclerosis,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0002002,Deep philtrum,Frequent (79-30%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0003086,Acromesomelia,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0006585,Congenital pseudoarthrosis of the clavicle,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0009623,Proximal placement of thumb,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0010055,Broad hallux,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0010663,Abnormality of thalamus morphology,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0012762,Cerebral white matter atrophy,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021813,Orphanet,435638,ORPHA:435638,51,HP:0100259,Postaxial polydactyly,Occasional (29-5%),TAS,,,,[PMID:25256099],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0000162,Glossoptosis,Frequent (79-30%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0000394,Lop ear,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0001239,Wrist flexion contracture,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0001840,Metatarsus adductus,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0002687,Abnormality of frontal sinus,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0002944,Thoracolumbar scoliosis,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0003396,Syringomyelia,Frequent (79-30%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0004969,Peripheral pulmonary artery stenosis,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0007099,Chiari type I malformation,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0009778,Short thumb,Frequent (79-30%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0009929,Abnormality of the columella,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0012430,Cerebral white matter hypoplasia,Frequent (79-30%),TAS,,,,[PMID:25195018],y,y +GARD:0021816,Orphanet,436003,ORPHA:436003,36,HP:0025100,Abnormal hippocampus morphology,Occasional (29-5%),TAS,,,,[PMID:25195018],y,y +GARD:0021817,Orphanet,436141,ORPHA:436141,11,HP:0000280,Coarse facial features,Obligate (100%),TAS,,,,[PMID:25078763],y,y +GARD:0021817,Orphanet,436141,ORPHA:436141,11,HP:0000486,Strabismus,Obligate (100%),TAS,,,,[PMID:25078763],y,y +GARD:0021817,Orphanet,436141,ORPHA:436141,11,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:25078763],y,y +GARD:0021817,Orphanet,436141,ORPHA:436141,11,HP:0001252,Hypotonia,Obligate (100%),TAS,,,,[PMID:25078763],y,y +GARD:0021817,Orphanet,436141,ORPHA:436141,11,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:25078763],y,y +GARD:0021817,Orphanet,436141,ORPHA:436141,11,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,[PMID:25078763],y,y +GARD:0021817,Orphanet,436141,ORPHA:436141,11,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,[PMID:25078763],y,y +GARD:0021817,Orphanet,436141,ORPHA:436141,11,HP:0002857,Genu valgum,Obligate (100%),TAS,,,,[PMID:25078763],y,y +GARD:0021817,Orphanet,436141,ORPHA:436141,11,HP:0003028,Abnormality of the ankles,Obligate (100%),TAS,,,,[PMID:25078763],y,y +GARD:0021817,Orphanet,436141,ORPHA:436141,11,HP:0006094,Finger joint hypermobility,Obligate (100%),TAS,,,,[PMID:25078763],y,y +GARD:0021817,Orphanet,436141,ORPHA:436141,11,HP:0010864,"Intellectual disability, severe",Obligate (100%),TAS,,,,[PMID:25078763],y,y +GARD:0021818,Orphanet,436144,ORPHA:436144,3,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,[PMID:25057881],y,y +GARD:0021818,Orphanet,436144,ORPHA:436144,3,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:25057881],y,y +GARD:0021818,Orphanet,436144,ORPHA:436144,3,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,[PMID:25057881],y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0000124,Renal tubular dysfunction,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0000580,Pigmentary retinopathy,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0001262,Excessive daytime somnolence,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0001410,Decreased liver function,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0001994,Renal Fanconi syndrome,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0002490,Increased CSF lactate,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0003076,Glycosuria,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0003109,Hyperphosphaturia,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0003355,Aminoaciduria,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0006555,Diffuse hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0006980,Progressive leukoencephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0007133,Progressive peripheral neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0008619,Bilateral sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0030195,Fatigable weakness of swallowing muscles,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021819,Orphanet,436271,ORPHA:436271,38,HP:0040291,Skeletal muscle steatosis,Frequent (79-30%),TAS,,,,"[PMID:16782708, PMID:25175347]",y,y +GARD:0021820,Orphanet,436274,ORPHA:436274,11,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,[PMID:24739904],y,y +GARD:0021820,Orphanet,436274,ORPHA:436274,11,HP:0000510,Rod-cone dystrophy,Obligate (100%),TAS,,,,[PMID:24739904],y,y +GARD:0021820,Orphanet,436274,ORPHA:436274,11,HP:0000587,Abnormality of the optic nerve,Very frequent (99-80%),TAS,,,,[PMID:24739904],y,y +GARD:0021820,Orphanet,436274,ORPHA:436274,11,HP:0000662,Nyctalopia,Obligate (100%),TAS,,,,[PMID:24739904],y,y +GARD:0021820,Orphanet,436274,ORPHA:436274,11,HP:0000973,Cutis laxa,Obligate (100%),TAS,,,,[PMID:24739904],y,y +GARD:0021820,Orphanet,436274,ORPHA:436274,11,HP:0001098,Abnormal fundus morphology,Frequent (79-30%),TAS,,,,[PMID:24739904],y,y +GARD:0021820,Orphanet,436274,ORPHA:436274,11,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,[PMID:24739904],y,y +GARD:0021820,Orphanet,436274,ORPHA:436274,11,HP:0007522,Increased number of skin folds,Very frequent (99-80%),TAS,,,,[PMID:24739904],y,y +GARD:0021820,Orphanet,436274,ORPHA:436274,11,HP:0007843,Attenuation of retinal blood vessels,Very frequent (99-80%),TAS,,,,[PMID:24739904],y,y +GARD:0021820,Orphanet,436274,ORPHA:436274,11,HP:0007980,Absent retinal pigment epithelium,Very frequent (99-80%),TAS,,,,[PMID:24739904],y,y +GARD:0021820,Orphanet,436274,ORPHA:436274,11,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,[PMID:24739904],y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0000855,Insulin resistance,Occasional (29-5%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0002088,Abnormal lung morphology,Occasional (29-5%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0002725,Systemic lupus erythematosus,Frequent (79-30%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0003508,Proportionate short stature,Very frequent (99-80%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0003613,Antiphospholipid antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0006266,Small placenta,Very frequent (99-80%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0008071,Maternal hypertension,Occasional (29-5%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0011403,Abnormal umbilical cord blood vessel morphology,Very frequent (99-80%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0012418,Hypoxemia,Very frequent (99-80%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0012759,Neurodevelopmental abnormality,Frequent (79-30%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0100021,Cerebral palsy,Occasional (29-5%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0100601,Eclampsia,Occasional (29-5%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0100602,Preeclampsia,Occasional (29-5%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021823,Orphanet,439167,ORPHA:439167,20,HP:0100767,Abnormal placenta morphology,Obligate (100%),TAS,,,,"[PMID:15383103, PMID:22521456, PMID:23320863, PMID:25485869, PMID:26098843]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0000096,Glomerular sclerosis,Occasional (29-5%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0001677,Coronary artery atherosclerosis,Occasional (29-5%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0001688,Sinus bradycardia,Very rare (<4-1%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0001917,Renal amyloidosis,Frequent (79-30%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0002088,Abnormal lung morphology,Very rare (<4-1%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0003077,Hyperlipidemia,Occasional (29-5%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0003259,Elevated circulating creatinine concentration,Very frequent (99-80%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0004381,Supravalvular aortic stenosis,Very rare (<4-1%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0004749,Atrial flutter,Very rare (<4-1%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0005110,Atrial fibrillation,Very rare (<4-1%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0006510,Chronic pulmonary obstruction,Occasional (29-5%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0011713,Left bundle branch block,Occasional (29-5%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0012309,Cutaneous amyloidosis,Very rare (<4-1%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0030843,Cardiac amyloidosis,Frequent (79-30%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0030872,Abnormal cardiac ventricular function,Frequent (79-30%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0031047,Paraproteinemia,Occasional (29-5%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0031546,Cardiac conduction abnormality,Occasional (29-5%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0032092,Left ventricular outflow tract obstruction,Occasional (29-5%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0032613,Renal interstitial amyloid deposits,Frequent (79-30%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021828,Orphanet,439232,ORPHA:439232,27,HP:0100957,Abnormal renal medulla morphology,Very frequent (99-80%),TAS,,,,"[PMID:27262366, PMID:28449784, PMID:28828707, PMID:32861330]",y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0000162,Glossoptosis,Frequent (79-30%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0000882,Hypoplastic scapulae,Frequent (79-30%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0000947,Dumbbell-shaped long bone,Frequent (79-30%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0002781,Upper airway obstruction,Very frequent (99-80%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0002980,Femoral bowing,Frequent (79-30%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0003016,Metaphyseal widening,Frequent (79-30%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0003097,Short femur,Frequent (79-30%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0011003,High myopia,Frequent (79-30%),TAS,,,,[PMID:25091507],y,y +GARD:0021838,Orphanet,440354,ORPHA:440354,19,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,[PMID:25091507],y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0001402,Hepatocellular carcinoma,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0002239,Gastrointestinal hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0002516,Increased intracranial pressure,Frequent (79-30%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0002671,Basal cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0002893,Pituitary adenoma,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0002894,Neoplasm of the pancreas,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0003006,Neuroblastoma,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0006725,Pancreatic adenocarcinoma,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0009726,Renal neoplasm,Excluded (0%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0010524,Agnosia,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0010526,Dysgraphia,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0010622,Neoplasm of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0010784,Uterine neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0010786,Urinary tract neoplasm,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0012113,Abnormal circulating creatine concentration,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0012126,Stomach cancer,Very rare (<4-1%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0012174,Glioblastoma multiforme,Very frequent (99-80%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0100013,Neoplasm of the breast,Excluded (0%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0100031,Neoplasm of the thyroid gland,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0100273,Neoplasm of the colon,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0100571,Cardiac diverticulum,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0100576,Amaurosis fugax,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0100615,Ovarian neoplasm,Excluded (0%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0100743,Neoplasm of the rectum,Frequent (79-30%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021840,Orphanet,440437,ORPHA:440437,53,HP:0100835,Benign neoplasm of the central nervous system,Occasional (29-5%),TAS,,,,"[PMID:15855431, PMID:22287689, PMID:25307848]",y,y +GARD:0021843,Orphanet,440727,ORPHA:440727,7,HP:0000577,Exotropia,Very frequent (99-80%),TAS,,,,[PMID:23162024],y,y +GARD:0021843,Orphanet,440727,ORPHA:440727,7,HP:0000579,Nasolacrimal duct obstruction,Occasional (29-5%),TAS,,,,[PMID:23162024],y,y +GARD:0021843,Orphanet,440727,ORPHA:440727,7,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,[PMID:23162024],y,y +GARD:0021843,Orphanet,440727,ORPHA:440727,7,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,[PMID:23162024],y,y +GARD:0021843,Orphanet,440727,ORPHA:440727,7,HP:0007773,Vitreoretinopathy,Occasional (29-5%),TAS,,,,[PMID:23162024],y,y +GARD:0021843,Orphanet,440727,ORPHA:440727,7,HP:0012795,Abnormality of the optic disc,Occasional (29-5%),TAS,,,,[PMID:23162024],y,y +GARD:0021843,Orphanet,440727,ORPHA:440727,7,HP:0012841,Retinal vascular tortuosity,Occasional (29-5%),TAS,,,,[PMID:23162024],y,y +GARD:0021852,Orphanet,443167,ORPHA:443167,9,HP:0001909,Leukemia,Frequent (79-30%),TAS,,,,"[PMID:12543779, PMID:22017582, PMID:22896655, PMID:23463074]",y,y +GARD:0021852,Orphanet,443167,ORPHA:443167,9,HP:0002664,Neoplasm,Very frequent (99-80%),TAS,,,,"[PMID:12543779, PMID:22017582, PMID:22896655, PMID:23463074]",y,y +GARD:0021852,Orphanet,443167,ORPHA:443167,9,HP:0002860,Squamous cell carcinoma,Frequent (79-30%),TAS,,,,"[PMID:12543779, PMID:22017582, PMID:22896655, PMID:23463074]",y,y +GARD:0021852,Orphanet,443167,ORPHA:443167,9,HP:0003006,Neuroblastoma,Frequent (79-30%),TAS,,,,"[PMID:12543779, PMID:22017582, PMID:22896655, PMID:23463074]",y,y +GARD:0021852,Orphanet,443167,ORPHA:443167,9,HP:0012142,Pancreatic squamous cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:12543779, PMID:22017582, PMID:22896655, PMID:23463074]",y,y +GARD:0021852,Orphanet,443167,ORPHA:443167,9,HP:0012182,Oropharyngeal squamous cell carcinoma,Frequent (79-30%),TAS,,,,"[PMID:12543779, PMID:22017582, PMID:22896655, PMID:23463074]",y,y +GARD:0021852,Orphanet,443167,ORPHA:443167,9,HP:0012254,Ewing sarcoma,Frequent (79-30%),TAS,,,,"[PMID:12543779, PMID:22017582, PMID:22896655, PMID:23463074]",y,y +GARD:0021852,Orphanet,443167,ORPHA:443167,9,HP:0045026,Abnormality of the mediastinum,Frequent (79-30%),TAS,,,,"[PMID:12543779, PMID:22017582, PMID:22896655, PMID:23463074]",y,y +GARD:0021852,Orphanet,443167,ORPHA:443167,9,HP:0100757,Pancreatoblastoma,Frequent (79-30%),TAS,,,,"[PMID:12543779, PMID:22017582, PMID:22896655, PMID:23463074]",y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000708,Behavioral abnormality,Very rare (<4-1%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000753,Autism with high cognitive abilities,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000817,Poor eye contact,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0001028,Hemangioma,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0011368,Epidermal thickening,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0012433,Abnormal social behavior,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0030190,Oral motor hypotonia,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0200034,Papule,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021858,Orphanet,444002,ORPHA:444002,44,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,[PMID:25735893],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0000490,Deeply set eye,Obligate (100%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0000598,Abnormality of the ear,Frequent (79-30%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0001263,Global developmental delay,Obligate (100%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0001884,Talipes calcaneovalgus,Frequent (79-30%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0002508,Brainstem dysplasia,Frequent (79-30%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0012385,Camptodactyly,Frequent (79-30%),TAS,,,,[PMID:25572454],y,y +GARD:0021859,Orphanet,444051,ORPHA:444051,19,HP:0040019,Finger clinodactyly,Frequent (79-30%),TAS,,,,[PMID:25572454],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0002344,Progressive neurologic deterioration,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0002505,Loss of ambulation,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0003438,Absent Achilles reflex,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0004373,Focal dystonia,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0006827,Atrophy of the spinal cord,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0007083,Hyperactive patellar reflex,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0007178,Motor polyneuropathy,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0007350,Hyperreflexia in upper limbs,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0021866,Orphanet,447757,ORPHA:447757,21,HP:0008075,Progressive pes cavus,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0000539,Abnormality of refraction,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0000641,Dysmetric saccades,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0000657,Oculomotor apraxia,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0001141,Severely reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0001998,Neonatal hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0002060,Abnormal cerebral morphology,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0002140,Ischemic stroke,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0002180,Neurodegeneration,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0007009,Central nervous system degeneration,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0007772,Impaired smooth pursuit,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0010794,Impaired visuospatial constructive cognition,Frequent (79-30%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0011450,Unusual CNS infection,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0012443,Abnormality of brain morphology,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0012796,Increased cup-to-disc ratio,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0025315,Exacerbated by head trauma,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0025405,Visual fixation instability,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0030800,Abnormal visual accommodation,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0032046,Focal cortical dysplasia,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0100021,Cerebral palsy,Frequent (79-30%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021871,Orphanet,447788,ORPHA:447788,41,HP:0500049,Retinopathy of prematurity,Occasional (29-5%),TAS,,,,"[PMID:31546476, PMID:31548019]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0002572,Episodic vomiting,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0012741,Unilateral cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0030043,Hip subluxation,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021875,Orphanet,447980,ORPHA:447980,51,HP:0100807,Long fingers,Frequent (79-30%),TAS,,,,"[PMID:20613546, PMID:25858326]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0000246,Sinusitis,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0001977,Abnormal thrombosis,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0002102,Pleuritis,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0002795,Abnormal respiratory system physiology,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0003095,Septic arthritis,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0005059,Arthralgia/arthritis,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0005265,Abnormal jejunum morphology,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0010766,Ectopic calcification,Frequent (79-30%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0011450,Unusual CNS infection,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0011919,Pleural empyema,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0012210,Abnormal renal morphology,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0012387,Bronchitis,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0020101,Invasive fungal infection,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0031994,Bronchial breath sound,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0032159,Fungal meningitis,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0032162,Unusual skin infection,Frequent (79-30%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0032169,Severe infection,Very frequent (99-80%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0032176,Apical pulmonary opacity,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0032255,Opportunistic fungal infection,Very frequent (99-80%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0032262,Pulmonary tuberculosis,Frequent (79-30%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0100584,Endocarditis,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021880,Orphanet,449280,ORPHA:449280,34,HP:0410263,Brain imaging abnormality,Occasional (29-5%),TAS,,,,"[PMID:26353885, PMID:29044831, PMID:29567285]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0000225,Gingival bleeding,Very rare (<4-1%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0000421,Epistaxis,Very rare (<4-1%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0001658,Myocardial infarction,Very rare (<4-1%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0001919,Acute kidney injury,Very rare (<4-1%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0001928,Abnormality of coagulation,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0002014,Diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0002068,Neuromuscular dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0002203,Respiratory paralysis,Very rare (<4-1%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0002615,Hypotension,Very rare (<4-1%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0002637,Cerebral ischemia,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0002878,Respiratory failure,Very rare (<4-1%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0002902,Hyponatremia,Very rare (<4-1%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0003201,Rhabdomyolysis,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0003470,Paralysis,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0003713,Muscle fiber necrosis,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0005521,Disseminated intravascular coagulation,Very rare (<4-1%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0007024,Pseudobulbar paralysis,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0009088,Speech articulation difficulties,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0011355,Localized skin lesion,Frequent (79-30%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0011900,Hypofibrinogenemia,Occasional (29-5%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0030149,Cardiogenic shock,Very rare (<4-1%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0031364,Ecchymosis,Frequent (79-30%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0040075,Hypopituitarism,Very rare (<4-1%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021881,Orphanet,449285,ORPHA:449285,34,HP:0100665,Angioedema,Very rare (<4-1%),TAS,,,,"[PMID:28905944, PMID:28975491]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0000024,Prostatitis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0000105,Enlarged kidney,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0000126,Hydronephrosis,Very rare (<4-1%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0000620,Dacryocystitis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0001082,Cholecystitis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0001410,Decreased liver function,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0001919,Acute kidney injury,Frequent (79-30%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0001970,Tubulointerstitial nephritis,Very frequent (99-80%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0002088,Abnormal lung morphology,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0002102,Pleuritis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0002840,Lymphadenitis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0002923,Rheumatoid factor positive,Frequent (79-30%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0003212,Increased circulating IgE level,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0003237,Increased circulating IgG level,Very frequent (99-80%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0003259,Elevated circulating creatinine concentration,Frequent (79-30%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0003493,Antinuclear antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0004431,Complement deficiency,Frequent (79-30%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0005200,Retroperitoneal fibrosis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0005421,Decreased serum complement C3,Frequent (79-30%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0006000,Ureteral obstruction,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0006515,Interstitial pneumonitis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0010741,Pedal edema,Very rare (<4-1%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0011109,Chronic sinusitis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0011123,Inflammatory abnormality of the skin,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0011227,Elevated circulating C-reactive protein concentration,Very rare (<4-1%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0011747,Abnormality of the anterior pituitary,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0012089,Arteritis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0012578,Membranous nephropathy,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0012592,Albuminuria,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0012593,Nephrotic range proteinuria,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0025633,Abnormal ureter morphology,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0030991,Sclerosing cholangitis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0031032,Decreased retinol-binding protein level,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0031093,Abnormal breast morphology,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0031281,Sialadenitis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0031549,Lymphocytoma cutis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0032298,Increased circulating IgG1 level,Frequent (79-30%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0032300,Increased circulating IgG4 level,Very frequent (99-80%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0032616,Renal interstitial immunoglobulin deposits,Frequent (79-30%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0045026,Abnormality of the mediastinum,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0045042,Decreased serum complement C4,Frequent (79-30%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0100016,Abnormality of mesentery morphology,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0100577,Urinary bladder inflammation,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0100586,Sterile pyuria,Excluded (0%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0100646,Thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021882,Orphanet,449395,ORPHA:449395,59,HP:0500006,Urethritis,Occasional (29-5%),TAS,,,,"[PMID:25594543, PMID:32234380, PMID:32488771]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0002099,Asthma,Frequent (79-30%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0002647,Aortic dissection,Occasional (29-5%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0003212,Increased circulating IgE level,Frequent (79-30%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0003419,Low back pain,Frequent (79-30%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0003493,Antinuclear antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0004431,Complement deficiency,Occasional (29-5%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0004970,Ascending tubular aorta aneurysm,Occasional (29-5%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0010702,Increased circulating antibody level,Very frequent (99-80%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0012303,Abnormal aortic arch morphology,Occasional (29-5%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0012393,Allergy,Frequent (79-30%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0012649,Increased inflammatory response,Frequent (79-30%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0012727,Thoracic aortic aneurysm,Frequent (79-30%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0031252,Dilated left subclavian artery,Occasional (29-5%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0032061,Hypereosinophilia,Frequent (79-30%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0032230,Cytoplasmic antineutrophil antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0032300,Increased circulating IgG4 level,Very frequent (99-80%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021883,Orphanet,449400,ORPHA:449400,25,HP:0430021,Abnormal common carotid artery morphology,Occasional (29-5%),TAS,,,,"[PMID:29682110, PMID:32234379, PMID:32710295, PMID:33121641]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0000024,Prostatitis,Very rare (<4-1%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0000217,Xerostomia,Frequent (79-30%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0000282,Facial edema,Occasional (29-5%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0000820,Abnormality of the thyroid gland,Occasional (29-5%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0001880,Eosinophilia,Frequent (79-30%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0003212,Increased circulating IgE level,Frequent (79-30%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0003237,Increased circulating IgG level,Very frequent (99-80%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0004431,Complement deficiency,Frequent (79-30%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0005200,Retroperitoneal fibrosis,Occasional (29-5%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0007734,Enlarged lacrimal glands,Frequent (79-30%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0010286,Abnormal salivary gland morphology,Frequent (79-30%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0010287,Abnormality of the submandibular glands,Very frequent (99-80%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0011801,Enlargement of parotid gland,Occasional (29-5%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0012090,Abnormal pancreas morphology,Occasional (29-5%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0025426,Abnormal bronchus morphology,Very rare (<4-1%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0025439,Pharyngitis,Occasional (29-5%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0030151,Cholangitis,Very rare (<4-1%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0031281,Sialadenitis,Frequent (79-30%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0032300,Increased circulating IgG4 level,Very frequent (99-80%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021884,Orphanet,449432,ORPHA:449432,25,HP:0100539,Periorbital edema,Occasional (29-5%),TAS,,,,"[PMID:24332556, PMID:27007955, PMID:27193771, PMID:33827676]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0000024,Prostatitis,Very rare (<4-1%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0000246,Sinusitis,Occasional (29-5%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0000315,Abnormality of the orbital region,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0000491,Keratitis,Very rare (<4-1%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0000492,Abnormal eyelid morphology,Occasional (29-5%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0000579,Nasolacrimal duct obstruction,Very rare (<4-1%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0000587,Abnormality of the optic nerve,Occasional (29-5%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0000620,Dacryocystitis,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0001733,Pancreatitis,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0001880,Eosinophilia,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0002088,Abnormal lung morphology,Occasional (29-5%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0002665,Lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0003003,Colon cancer,Very rare (<4-1%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0003212,Increased circulating IgE level,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0003493,Antinuclear antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0005200,Retroperitoneal fibrosis,Occasional (29-5%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0007734,Enlarged lacrimal glands,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0008049,Abnormality of the extraocular muscles,Occasional (29-5%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0009831,Mononeuropathy,Occasional (29-5%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0010824,Abnormal fifth cranial nerve morphology,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0011482,Abnormal lacrimal gland morphology,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0011747,Abnormality of the anterior pituitary,Very rare (<4-1%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0012393,Allergy,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0012539,Non-Hodgkin lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0030151,Cholangitis,Very rare (<4-1%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0030669,Abnormal ocular adnexa morphology,Occasional (29-5%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0031281,Sialadenitis,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0031912,Trigeminal anesthesia,Very rare (<4-1%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0032300,Increased circulating IgG4 level,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0100526,Neoplasm of the lung,Very rare (<4-1%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0100539,Periorbital edema,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0100540,Palpebral edema,Occasional (29-5%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0100646,Thyroiditis,Very rare (<4-1%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0100661,Trigeminal neuralgia,Very rare (<4-1%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0100796,Orchitis,Very rare (<4-1%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:0430022,Abnormality of the sphenoid sinus,Very rare (<4-1%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:3000030,Abnormal morphology of bony orbit of skull,Occasional (29-5%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021885,Orphanet,449563,ORPHA:449563,42,HP:3000061,Abnormality of infra-orbital nerve,Frequent (79-30%),TAS,,,,"[PMID:25392273, PMID:25564258, PMID:28272212]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0000491,Keratitis,Frequent (79-30%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0000742,Self-mutilation,Frequent (79-30%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0001772,Talipes equinovalgus,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0001838,Rocker bottom foot,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0002188,Delayed CNS myelination,Frequent (79-30%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0002754,Osteomyelitis,Frequent (79-30%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0002982,Tibial bowing,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0007021,Pain insensitivity,Frequent (79-30%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0008000,Decreased corneal reflex,Frequent (79-30%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0008780,Congenital bilateral hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0009826,Limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0010830,Impaired tactile sensation,Frequent (79-30%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0010841,Multifocal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0012044,Seesaw nystagmus,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0012745,Short palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021890,Orphanet,453510,ORPHA:453510,29,HP:0200020,Corneal erosion,Occasional (29-5%),TAS,,,,"[PMID:26068709, PMID:29419974]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0001287,Meningitis,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0001919,Acute kidney injury,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0002098,Respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0002107,Pneumothorax,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0002113,Pulmonary infiltrates,Frequent (79-30%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0002383,Infectious encephalitis,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0002789,Tachypnea,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0002910,Elevated hepatic transaminase,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0003073,Hypoalbuminemia,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0003201,Rhabdomyolysis,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0003236,Elevated circulating creatine kinase concentration,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0005521,Disseminated intravascular coagulation,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0012115,Hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0012486,Myelitis,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0025179,Ground-glass opacification,Frequent (79-30%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0025435,Increased circulating lactate dehydrogenase concentration,Occasional (29-5%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0025439,Pharyngitis,Very frequent (99-80%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0031245,Productive cough,Occasional (29-5%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0031246,Nonproductive cough,Frequent (79-30%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021897,Orphanet,454836,ORPHA:454836,41,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:28159162, PMID:31668198]",y,y +GARD:0021903,Orphanet,457083,ORPHA:457083,13,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:18971159, PMID:26952691, PMID:32063996]",y,y +GARD:0021903,Orphanet,457083,ORPHA:457083,13,HP:0000034,Hydrocele testis,Occasional (29-5%),TAS,,,,"[PMID:18971159, PMID:26952691, PMID:32063996]",y,y +GARD:0021903,Orphanet,457083,ORPHA:457083,13,HP:0000036,Abnormal penis morphology,Very rare (<4-1%),TAS,,,,"[PMID:18971159, PMID:26952691, PMID:32063996]",y,y +GARD:0021903,Orphanet,457083,ORPHA:457083,13,HP:0000045,Abnormality of the scrotum,Very frequent (99-80%),TAS,,,,"[PMID:18971159, PMID:26952691, PMID:32063996]",y,y +GARD:0021903,Orphanet,457083,ORPHA:457083,13,HP:0000837,Increased circulating gonadotropin level,Excluded (0%),TAS,,,,"[PMID:18971159, PMID:26952691, PMID:32063996]",y,y +GARD:0021903,Orphanet,457083,ORPHA:457083,13,HP:0001748,Polysplenia,Occasional (29-5%),TAS,,,,"[PMID:18971159, PMID:26952691, PMID:32063996]",y,y +GARD:0021903,Orphanet,457083,ORPHA:457083,13,HP:0006254,Elevated alpha-fetoprotein,Excluded (0%),TAS,,,,"[PMID:18971159, PMID:26952691, PMID:32063996]",y,y +GARD:0021903,Orphanet,457083,ORPHA:457083,13,HP:0008689,Bilateral cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:18971159, PMID:26952691, PMID:32063996]",y,y +GARD:0021903,Orphanet,457083,ORPHA:457083,13,HP:0009714,Abnormality of the epididymis,Occasional (29-5%),TAS,,,,"[PMID:18971159, PMID:26952691, PMID:32063996]",y,y +GARD:0021903,Orphanet,457083,ORPHA:457083,13,HP:0010452,Ectopia of the spleen,Occasional (29-5%),TAS,,,,"[PMID:18971159, PMID:26952691, PMID:32063996]",y,y +GARD:0021903,Orphanet,457083,ORPHA:457083,13,HP:0012741,Unilateral cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:18971159, PMID:26952691, PMID:32063996]",y,y +GARD:0021903,Orphanet,457083,ORPHA:457083,13,HP:0032404,Testicular mass,Frequent (79-30%),TAS,,,,"[PMID:18971159, PMID:26952691, PMID:32063996]",y,y +GARD:0021903,Orphanet,457083,ORPHA:457083,13,HP:0045040,Abnormal lactate dehydrogenase level,Excluded (0%),TAS,,,,"[PMID:18971159, PMID:26952691, PMID:32063996]",y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0003390,Sensory axonal neuropathy,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0007002,Motor axonal neuropathy,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0007817,Horizontal supranuclear gaze palsy,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0011471,Gastrostomy tube feeding in infancy,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0012411,Premature pubarche,Occasional (29-5%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0030179,Abnormal peripheral action potential amplitude,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0100492,Joint contractures involving the joints of the feet,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021904,Orphanet,457205,ORPHA:457205,26,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,[PMID:25504045],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0000179,Thick lower lip vermilion,Occasional (29-5%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0000189,Narrow palate,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0000331,Short chin,Occasional (29-5%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0001845,Overlapping toe,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0002352,Leukoencephalopathy,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021906,Orphanet,457365,ORPHA:457365,24,HP:0010761,Broad columella,Frequent (79-30%),TAS,,,,[PMID:26192890],y,y +GARD:0021918,Orphanet,459074,ORPHA:459074,10,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,[PMID:25944787],y,y +GARD:0021918,Orphanet,459074,ORPHA:459074,10,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:25944787],y,y +GARD:0021918,Orphanet,459074,ORPHA:459074,10,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,[PMID:25944787],y,y +GARD:0021918,Orphanet,459074,ORPHA:459074,10,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,[PMID:25944787],y,y +GARD:0021918,Orphanet,459074,ORPHA:459074,10,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:25944787],y,y +GARD:0021918,Orphanet,459074,ORPHA:459074,10,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,[PMID:25944787],y,y +GARD:0021918,Orphanet,459074,ORPHA:459074,10,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,[PMID:25944787],y,y +GARD:0021918,Orphanet,459074,ORPHA:459074,10,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,[PMID:25944787],y,y +GARD:0021918,Orphanet,459074,ORPHA:459074,10,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,[PMID:25944787],y,y +GARD:0021918,Orphanet,459074,ORPHA:459074,10,HP:0007099,Chiari type I malformation,Frequent (79-30%),TAS,,,,[PMID:25944787],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000028,Cryptorchidism,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000047,Hypospadias,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000054,Micropenis,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000107,Renal cyst,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000122,Unilateral renal agenesis,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000125,Pelvic kidney,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000126,Hydronephrosis,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000541,Retinal detachment,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001561,Polyhydramnios,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001562,Oligohydramnios,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001650,Aortic valve stenosis,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001659,Aortic regurgitation,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0002247,Duodenal atresia,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0002269,Abnormality of neuronal migration,Very rare (<4-1%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0002363,Abnormal brainstem morphology,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0003319,Abnormality of the cervical spine,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0003561,Birth length less than 3rd percentile,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0006466,Ankle flexion contracture,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0009121,Abnormal axial skeleton morphology,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0011171,Simple febrile seizure,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0011757,Posterior pituitary hypoplasia,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0012785,Flexion contracture of finger,Occasional (29-5%),TAS,,,,[PMID:26922654],y,y +GARD:0021926,Orphanet,464311,ORPHA:464311,68,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,[PMID:26922654],y,y +GARD:0021927,Orphanet,464318,ORPHA:464318,7,HP:0001028,Hemangioma,Obligate (100%),TAS,,,,"[PMID:21649690, PMID:23578182]",y,y +GARD:0021927,Orphanet,464318,ORPHA:464318,7,HP:0011123,Inflammatory abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:21649690, PMID:23578182]",y,y +GARD:0021927,Orphanet,464318,ORPHA:464318,7,HP:0011356,Regional abnormality of skin,Frequent (79-30%),TAS,,,,"[PMID:21649690, PMID:23578182]",y,y +GARD:0021927,Orphanet,464318,ORPHA:464318,7,HP:0012740,Papilloma,Frequent (79-30%),TAS,,,,"[PMID:21649690, PMID:23578182]",y,y +GARD:0021927,Orphanet,464318,ORPHA:464318,7,HP:0025092,Epidermal acanthosis,Frequent (79-30%),TAS,,,,"[PMID:21649690, PMID:23578182]",y,y +GARD:0021927,Orphanet,464318,ORPHA:464318,7,HP:0045059,Hyperkeratotic papule,Frequent (79-30%),TAS,,,,"[PMID:21649690, PMID:23578182]",y,y +GARD:0021927,Orphanet,464318,ORPHA:464318,7,HP:0200035,Skin plaque,Frequent (79-30%),TAS,,,,"[PMID:21649690, PMID:23578182]",y,y +GARD:0021929,Orphanet,464370,ORPHA:464370,12,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:31049048, PMID:31858675, PMID:32422924]",y,y +GARD:0021929,Orphanet,464370,ORPHA:464370,12,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:31049048, PMID:31858675, PMID:32422924]",y,y +GARD:0021929,Orphanet,464370,ORPHA:464370,12,HP:0001904,Neutropenia in presence of anti-neutropil antibodies,Very frequent (99-80%),TAS,,,,"[PMID:31049048, PMID:31858675, PMID:32422924]",y,y +GARD:0021929,Orphanet,464370,ORPHA:464370,12,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:31049048, PMID:31858675, PMID:32422924]",y,y +GARD:0021929,Orphanet,464370,ORPHA:464370,12,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:31049048, PMID:31858675, PMID:32422924]",y,y +GARD:0021929,Orphanet,464370,ORPHA:464370,12,HP:0003453,Antineutrophil antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:31049048, PMID:31858675, PMID:32422924]",y,y +GARD:0021929,Orphanet,464370,ORPHA:464370,12,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,"[PMID:31049048, PMID:31858675, PMID:32422924]",y,y +GARD:0021929,Orphanet,464370,ORPHA:464370,12,HP:0005968,Temperature instability,Occasional (29-5%),TAS,,,,"[PMID:31049048, PMID:31858675, PMID:32422924]",y,y +GARD:0021929,Orphanet,464370,ORPHA:464370,12,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,"[PMID:31049048, PMID:31858675, PMID:32422924]",y,y +GARD:0021929,Orphanet,464370,ORPHA:464370,12,HP:0032169,Severe infection,Frequent (79-30%),TAS,,,,"[PMID:31049048, PMID:31858675, PMID:32422924]",y,y +GARD:0021929,Orphanet,464370,ORPHA:464370,12,HP:0032435,Neonatal omphalitis,Occasional (29-5%),TAS,,,,"[PMID:31049048, PMID:31858675, PMID:32422924]",y,y +GARD:0021929,Orphanet,464370,ORPHA:464370,12,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:31049048, PMID:31858675, PMID:32422924]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0001941,Acidosis,Frequent (79-30%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0002098,Respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0002329,Drowsiness,Occasional (29-5%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0012119,Methemoglobinemia,Very frequent (99-80%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021930,Orphanet,464453,ORPHA:464453,21,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:25637615, PMID:27412886, PMID:28667718]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0000958,Dry skin,Very rare (<4-1%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0000970,Anhidrosis,Very rare (<4-1%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0001410,Decreased liver function,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0001873,Thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0001919,Acute kidney injury,Very rare (<4-1%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0002047,Malignant hyperthermia,Very frequent (99-80%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0002153,Hyperkalemia,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0002480,Hepatic encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0002905,Hyperphosphatemia,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0003128,Lactic acidosis,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0003201,Rhabdomyolysis,Very rare (<4-1%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0003256,Abnormality of the coagulation cascade,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0003710,Exercise-induced muscle cramps,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0005135,Abnormal T-wave,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0005521,Disseminated intravascular coagulation,Very rare (<4-1%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0011703,Sinus tachycardia,Frequent (79-30%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0012250,ST segment depression,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0012417,Hypocapnia,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0030830,Crackles,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0030850,Abnormal pulse pressure,Frequent (79-30%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0031258,Delirium,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0031284,Flushing,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021936,Orphanet,466650,ORPHA:466650,41,HP:0100520,Oliguria,Occasional (29-5%),TAS,,,,"[PMID:28128878, PMID:30725820, PMID:33190635]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0000616,Miosis,Frequent (79-30%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0000622,Blurred vision,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0000711,Restlessness,Frequent (79-30%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0001260,Dysarthria,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0001336,Myoclonus,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0001347,Hyperreflexia,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0001649,Tachycardia,Very frequent (99-80%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0001735,Acute pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0001919,Acute kidney injury,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0001950,Respiratory alkalosis,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0002487,Hyperkinetic movements,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0002900,Hypokalemia,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0002919,Ketonuria,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0003074,Hyperglycemia,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0003076,Glycosuria,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0003201,Rhabdomyolysis,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0003781,Excessive salivation,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0004360,Abnormality of acid-base homeostasis,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0005967,Mixed respiratory and metabolic acidosis,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0006682,Premature ventricular contraction,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0010828,Hemifacial spasm,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0010872,T-wave inversion,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0011499,Mydriasis,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0011710,Bundle branch block,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0012250,ST segment depression,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0012531,Pain,Very frequent (99-80%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0012547,Abnormal involuntary eye movements,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0012819,Myocarditis,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0025072,Prominent U wave,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0025435,Increased circulating lactate dehydrogenase concentration,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0030149,Cardiogenic shock,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0031185,Increased circulating NT-proBNP concentration,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0031416,Abnormal nasal mucus secretion,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0031546,Cardiac conduction abnormality,Frequent (79-30%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0031956,Elevated circulating aspartate aminotransferase concentration,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0032232,Increased circulating creatine kinase MB isoform,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0100598,Pulmonary edema,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0100660,Dyskinesia,Very rare (<4-1%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0200023,Priapism,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021939,Orphanet,466677,ORPHA:466677,58,HP:0410173,Increased circulating troponin I concentration,Occasional (29-5%),TAS,,,,"[PMID:25075837, PMID:26676487]",y,y +GARD:0021966,Orphanet,477781,ORPHA:477781,6,HP:0000306,Abnormality of the chin,Frequent (79-30%),TAS,,,,"[PMID:18778456, PMID:19164410, PMID:26147813, PMID:30737324]",y,y +GARD:0021966,Orphanet,477781,ORPHA:477781,6,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,"[PMID:18778456, PMID:19164410, PMID:26147813, PMID:30737324]",y,y +GARD:0021966,Orphanet,477781,ORPHA:477781,6,HP:0001572,Macrodontia,Occasional (29-5%),TAS,,,,"[PMID:18778456, PMID:19164410, PMID:26147813, PMID:30737324]",y,y +GARD:0021966,Orphanet,477781,ORPHA:477781,6,HP:0009102,Anterior open-bite malocclusion,Frequent (79-30%),TAS,,,,"[PMID:18778456, PMID:19164410, PMID:26147813, PMID:30737324]",y,y +GARD:0021966,Orphanet,477781,ORPHA:477781,6,HP:0010754,Abnormality of the temporomandibular joint,Frequent (79-30%),TAS,,,,"[PMID:18778456, PMID:19164410, PMID:26147813, PMID:30737324]",y,y +GARD:0021966,Orphanet,477781,ORPHA:477781,6,HP:3000077,Abnormal mandible condylar process morphology,Very frequent (99-80%),TAS,,,,"[PMID:18778456, PMID:19164410, PMID:26147813, PMID:30737324]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0000113,Polycystic kidney dysplasia,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0001405,Periportal fibrosis,Excluded (0%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0001406,Intrahepatic cholestasis,Very frequent (99-80%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0001971,Hypersplenism,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0002040,Esophageal varix,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0002248,Hematemesis,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0002249,Melena,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0002612,Congenital hepatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0002904,Hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0002908,Conjugated hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0003565,Elevated erythrocyte sedimentation rate,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0011040,Abnormality of the intrahepatic bile duct,Very frequent (99-80%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0025143,Chills,Frequent (79-30%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0030151,Cholangitis,Frequent (79-30%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0030153,Cholangiocarcinoma,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0032106,Conjunctival icterus,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0032545,Abdominal rigidity,Frequent (79-30%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0100523,Liver abscess,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021976,Orphanet,480520,ORPHA:480520,36,HP:0100889,Abnormality of the ductus choledochus,Occasional (29-5%),TAS,,,,"[PMID:17461493, PMID:30020679]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0001212,Prominent fingertip pads,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0001702,Abnormal tricuspid valve morphology,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0007687,Unilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0008689,Bilateral cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0009237,Short 5th finger,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0009748,Large earlobe,Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0010862,Delayed fine motor development,Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0011040,Abnormality of the intrahepatic bile duct,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0012166,Skin-picking,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0012170,Nail-biting,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0012450,Chronic constipation,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0021993,Orphanet,485405,ORPHA:485405,44,HP:0040025,Clinodactyly of the 4th finger,Occasional (29-5%),TAS,,,,"[PMID:17704777, PMID:26647099]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0000077,Abnormality of the kidney,Excluded (0%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0000260,Wide anterior fontanel,Frequent (79-30%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0000537,Epicanthus inversus,Very frequent (99-80%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0000820,Abnormality of the thyroid gland,Excluded (0%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0001263,Global developmental delay,Excluded (0%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0002693,Abnormality of the skull base,Frequent (79-30%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0005453,Absent/hypoplastic paranasal sinuses,Very frequent (99-80%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0005494,Premature posterior fontanelle closure,Frequent (79-30%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0009119,Aplasia/Hypoplasia of the frontal sinuses,Very frequent (99-80%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0010291,Prominent palatine ridges,Frequent (79-30%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022001,Orphanet,488437,ORPHA:488437,22,HP:0011330,Metopic synostosis,Frequent (79-30%),TAS,,,,"[PMID:10773454, PMID:26581443, PMID:7720577]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0000464,Abnormality of the neck,Frequent (79-30%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0001297,Stroke,Frequent (79-30%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0001727,Thromboembolic stroke,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0001977,Abnormal thrombosis,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0002138,Subarachnoid hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0002621,Atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0002634,Arteriosclerosis,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0002637,Cerebral ischemia,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0002721,Immunodeficiency,Very rare (<4-1%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0002960,Autoimmunity,Very rare (<4-1%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0003484,Upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0003549,Abnormality of connective tissue,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0005160,Total anomalous pulmonary venous return,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0005313,Arterial fibromuscular dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0012089,Arteritis,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0031690,Opportunistic infection,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0031910,Abnormal cranial nerve physiology,Frequent (79-30%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0032169,Severe infection,Occasional (29-5%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022003,Orphanet,494424,ORPHA:494424,28,HP:0032271,Extrapulmonary tuberculosis,Very rare (<4-1%),TAS,,,,"[PMID:26603291, PMID:28392101, PMID:31269009]",y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000046,Small scrotum,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000483,Astigmatism,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0001009,Telangiectasia,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0002003,Large forehead,Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0002099,Asthma,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0002164,Nail dysplasia,Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0002188,Delayed CNS myelination,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0002518,Abnormal periventricular white matter morphology,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0002999,Patellar dislocation,Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0003065,Patellar hypoplasia,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0005487,Prominent metopic ridge,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0006443,Patellar aplasia,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0006471,Fixed elbow flexion,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0006855,Cerebellar vermis atrophy,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0008936,Axial hypotonia,Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0010665,Bilateral coxa valga,Frequent (79-30%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0010720,Abnormal hair pattern,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0011822,Broad chin,Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0011825,Tented philtrum,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0100633,Esophagitis,Occasional (29-5%),TAS,,,,[PMID:26395556],y,y +GARD:0022009,Orphanet,495818,ORPHA:495818,53,HP:0200005,Abnormal shape of the palpebral fissure,Very frequent (99-80%),TAS,,,,[PMID:26395556],y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000064,Hypoplastic labia minora,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000294,Low anterior hairline,Very frequent (99-80%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000350,Small forehead,Very frequent (99-80%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000557,Buphthalmos,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000666,Horizontal nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0001097,Keratoconjunctivitis sicca,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0001131,Corneal dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0001305,Dandy-Walker malformation,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0001545,Anteriorly placed anus,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0002000,Short columella,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0008707,Absent scrotum,Very frequent (99-80%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0008729,Absence of labia majora,Very frequent (99-80%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0011229,Broad eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0011343,Moderate global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0011825,Tented philtrum,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0012110,Hypoplasia of the pons,Frequent (79-30%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0025405,Visual fixation instability,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0040171,Decreased serum testosterone concentration,Occasional (29-5%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022010,Orphanet,495875,ORPHA:495875,52,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:27103078, PMID:30487245]",y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0001272,Cerebellar atrophy,Excluded (0%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0002059,Cerebral atrophy,Excluded (0%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0003698,Difficulty standing,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0007210,Lower limb amyotrophy,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0008997,Proximal muscle weakness in upper limbs,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0009129,Upper limb amyotrophy,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0012473,Tongue atrophy,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0012531,Pain,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,[PMID:28488683],y,y +GARD:0022012,Orphanet,496689,ORPHA:496689,22,HP:0040081,Abnormal circulating creatine kinase concentration,Excluded (0%),TAS,,,,[PMID:28488683],y,y +GARD:0022051,Orphanet,505395,ORPHA:505395,14,HP:0000775,Abnormality of the diaphragm,Very frequent (99-80%),TAS,,,,"[PMID:28887062, PMID:30453774]",y,y +GARD:0022051,Orphanet,505395,ORPHA:505395,14,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:28887062, PMID:30453774]",y,y +GARD:0022051,Orphanet,505395,ORPHA:505395,14,HP:0002747,Respiratory insufficiency due to muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:28887062, PMID:30453774]",y,y +GARD:0022051,Orphanet,505395,ORPHA:505395,14,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,"[PMID:28887062, PMID:30453774]",y,y +GARD:0022051,Orphanet,505395,ORPHA:505395,14,HP:0005946,Ventilator dependence with inability to wean,Very frequent (99-80%),TAS,,,,"[PMID:28887062, PMID:30453774]",y,y +GARD:0022051,Orphanet,505395,ORPHA:505395,14,HP:0006597,Diaphragmatic paralysis,Very rare (<4-1%),TAS,,,,"[PMID:28887062, PMID:30453774]",y,y +GARD:0022051,Orphanet,505395,ORPHA:505395,14,HP:0009113,Diaphragmatic weakness,Very frequent (99-80%),TAS,,,,"[PMID:28887062, PMID:30453774]",y,y +GARD:0022051,Orphanet,505395,ORPHA:505395,14,HP:0011458,Abdominal symptom,Occasional (29-5%),TAS,,,,"[PMID:28887062, PMID:30453774]",y,y +GARD:0022051,Orphanet,505395,ORPHA:505395,14,HP:0012416,Hypercapnia,Occasional (29-5%),TAS,,,,"[PMID:28887062, PMID:30453774]",y,y +GARD:0022051,Orphanet,505395,ORPHA:505395,14,HP:0012496,Reduced maximal inspiratory pressure,Frequent (79-30%),TAS,,,,"[PMID:28887062, PMID:30453774]",y,y +GARD:0022051,Orphanet,505395,ORPHA:505395,14,HP:0025464,Increased reactive oxygen species production,Very frequent (99-80%),TAS,,,,"[PMID:28887062, PMID:30453774]",y,y +GARD:0022051,Orphanet,505395,ORPHA:505395,14,HP:0032169,Severe infection,Frequent (79-30%),TAS,,,,"[PMID:28887062, PMID:30453774]",y,y +GARD:0022051,Orphanet,505395,ORPHA:505395,14,HP:0032341,Reduced forced vital capacity,Occasional (29-5%),TAS,,,,"[PMID:28887062, PMID:30453774]",y,y +GARD:0022051,Orphanet,505395,ORPHA:505395,14,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:28887062, PMID:30453774]",y,y +GARD:0022067,Orphanet,508410,ORPHA:508410,8,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0022067,Orphanet,508410,ORPHA:508410,8,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0022067,Orphanet,508410,ORPHA:508410,8,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0022067,Orphanet,508410,ORPHA:508410,8,HP:0000637,Long palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0022067,Orphanet,508410,ORPHA:508410,8,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0022067,Orphanet,508410,ORPHA:508410,8,HP:0002566,Intestinal malrotation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0022067,Orphanet,508410,ORPHA:508410,8,HP:0002580,Volvulus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0022067,Orphanet,508410,ORPHA:508410,8,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001230,Broad metacarpals,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001830,Postaxial foot polydactyly,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002179,Opisthotonus,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002341,Cervical cord compression,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002676,Cloverleaf skull,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002813,Abnormality of limb bone morphology,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002850,Decreased circulating total IgM,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002867,Abnormal ilium morphology,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0002996,Limited elbow movement,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0003051,Enlarged metaphyses,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0003189,Long nose,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0003212,Increased circulating IgE level,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0003311,Hypoplasia of the odontoid process,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0003319,Abnormality of the cervical spine,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0003375,Narrow greater sciatic notch,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0003498,Disproportionate short stature,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0004315,Decreased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0004430,Severe combined immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0004565,Severe platyspondyly,Very frequent (99-80%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0004894,Laryngotracheal stenosis,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0005306,Capillary hemangioma,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0005403,T lymphocytopenia,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0005407,Decreased proportion of CD4-positive helper T cells,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0005415,Decreased proportion of CD8-positive T cells,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0005619,Thoracolumbar kyphosis,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0008445,Cervical spinal canal stenosis,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0008462,Cervical instability,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0008763,No social interaction,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0008807,Acetabular dysplasia,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0009062,Infantile axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0009768,Broad phalanges of the hand,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0009803,Short phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0009826,Limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0011166,Focal myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0025336,Delayed ability to sit,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0030320,Increased intervertebral space,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0031381,Decreased lymphocyte proliferation in response to mitogen,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0032061,Hypereosinophilia,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0045060,Aplasia/hypoplasia involving bones of the extremities,Frequent (79-30%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022070,Orphanet,508533,ORPHA:508533,96,HP:0100865,Broad ischia,Occasional (29-5%),TAS,,,,"[PMID:28132690, PMID:28148688, PMID:28331220]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0000243,Trigonocephaly,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0000765,Abnormal thorax morphology,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0000916,Broad clavicles,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0001896,Reticulocytopenia,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0002783,Recurrent lower respiratory tract infections,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0002863,Myelodysplasia,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0004991,Rhizomelic arm shortening,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0005528,Bone marrow hypocellularity,Very frequent (99-80%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0005792,Short humerus,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0006872,Cerebral hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0010049,Short metacarpal,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0010976,B lymphocytopenia,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0012490,Panniculitis,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0012817,Noncompaction cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0031688,Erythroid dysplasia,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022071,Orphanet,508542,ORPHA:508542,38,HP:0031689,Megakaryocyte dysplasia,Frequent (79-30%),TAS,,,,"[PMID:28115216, PMID:30746751]",y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0001273,Abnormal corpus callosum morphology,Excluded (0%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0001410,Decreased liver function,Occasional (29-5%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0002120,Cerebral cortical atrophy,Excluded (0%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Frequent (79-30%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0009062,Infantile axial hypotonia,Frequent (79-30%),TAS,,,,[PMID:27863452],y,y +GARD:0022075,Orphanet,512260,ORPHA:512260,17,HP:0012759,Neurodevelopmental abnormality,Frequent (79-30%),TAS,,,,[PMID:27863452],y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0000456,Bifid nasal tip,Frequent (79-30%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0002817,Abnormality of the upper limb,Frequent (79-30%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0007330,Frontal encephalocele,Occasional (29-5%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0007874,Almond-shaped palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0008115,Clinodactyly of the 3rd toe,Occasional (29-5%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0010939,Abnormal nasal bone morphology,Frequent (79-30%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022142,Orphanet,521308,ORPHA:521308,22,HP:0012165,Oligodactyly,Occasional (29-5%),TAS,,,,"[PMID:15166289, PMID:29136349]",y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0000577,Exotropia,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0001349,Facial diplegia,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0001638,Cardiomyopathy,Excluded (0%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0003376,Steppage gait,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0003444,EMG: chronic denervation signs,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0007178,Motor polyneuropathy,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0009055,Generalized limb muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0010836,Abnormal circulating copper concentration,Frequent (79-30%),TAS,,,,[PMID:29351582],y,y +GARD:0022143,Orphanet,521411,ORPHA:521411,21,HP:0040081,Abnormal circulating creatine kinase concentration,Excluded (0%),TAS,,,,[PMID:29351582],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000321,Square face,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000557,Buphthalmos,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000558,Rieger anomaly,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000696,Delayed eruption of permanent teeth,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000787,Nephrolithiasis,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0000851,Congenital hypothyroidism,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0001848,Calcaneovalgus deformity,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0005487,Prominent metopic ridge,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0005990,Thyroid hypoplasia,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0008007,Primary congenital glaucoma,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0008619,Bilateral sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0010490,Abnormality of the palmar creases,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0020038,Vertebrobasilar dolichoectasia,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022145,Orphanet,521445,ORPHA:521445,27,HP:0100807,Long fingers,Frequent (79-30%),TAS,,,,[PMID:28722276],y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0000237,Small anterior fontanelle,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0000491,Keratitis,Very rare (<4-1%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0000492,Abnormal eyelid morphology,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0000720,Mood swings,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0000853,Goiter,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0001263,Global developmental delay,Very rare (<4-1%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0001904,Neutropenia in presence of anti-neutropil antibodies,Very rare (<4-1%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0001959,Polydipsia,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0002487,Hyperkinetic movements,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0005110,Atrial fibrillation,Occasional (29-5%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0008373,Puberty and gonadal disorders,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0010519,Increased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0011703,Sinus tachycardia,Very frequent (99-80%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0011784,Thyrotoxicosis with diffuse goiter,Very frequent (99-80%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0011788,Increased circulating free T3,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0012768,Neonatal asphyxia,Very rare (<4-1%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0025379,Anti-thyroid peroxidase antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0031284,Flushing,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0031506,Increased circulating T4 level,Very frequent (99-80%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0100534,Episcleritis,Occasional (29-5%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0100647,Graves disease,Very frequent (99-80%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0100785,Insomnia,Frequent (79-30%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022190,Orphanet,525731,ORPHA:525731,48,HP:0200028,Pretibial myxedema,Very rare (<4-1%),TAS,,,,"[PMID:10447021, PMID:15069405, PMID:18628515, PMID:22031519, PMID:26980880, PMID:27978517, PMID:28381452, PMID:9814445]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0000502,Abnormal conjunctiva morphology,Frequent (79-30%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0001343,Kernicterus,Frequent (79-30%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0001878,Hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0002480,Hepatic encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0002871,Central apnea,Frequent (79-30%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0003228,Hypernatremia,Occasional (29-5%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0003265,Neonatal hyperbilirubinemia,Very frequent (99-80%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0006579,Prolonged neonatal jaundice,Very frequent (99-80%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0006958,Abnormal auditory evoked potentials,Very frequent (99-80%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0012696,Abnormal thalamic MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0025331,Upgaze palsy,Occasional (29-5%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0032106,Conjunctival icterus,Frequent (79-30%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0040187,Neonatal sepsis,Occasional (29-5%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022197,Orphanet,529799,ORPHA:529799,20,HP:0100021,Cerebral palsy,Frequent (79-30%),TAS,,,,"[PMID:20123952, PMID:22123452, PMID:27113379, PMID:29593357, PMID:30406356]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0000502,Abnormal conjunctiva morphology,Frequent (79-30%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0001343,Kernicterus,Frequent (79-30%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0001878,Hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0002480,Hepatic encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0002871,Central apnea,Frequent (79-30%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0003228,Hypernatremia,Occasional (29-5%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0003265,Neonatal hyperbilirubinemia,Very frequent (99-80%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0006579,Prolonged neonatal jaundice,Very frequent (99-80%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0006958,Abnormal auditory evoked potentials,Very frequent (99-80%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0012696,Abnormal thalamic MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0025518,Visual gaze preference,Occasional (29-5%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0032106,Conjunctival icterus,Frequent (79-30%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0040187,Neonatal sepsis,Occasional (29-5%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022198,Orphanet,529808,ORPHA:529808,21,HP:0100021,Cerebral palsy,Frequent (79-30%),TAS,,,,"[PMID:20116355, PMID:20704172, PMID:20704173]",y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000076,Vesicoureteral reflux,Very rare (<4-1%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000362,Otosclerosis,Occasional (29-5%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000475,Broad neck,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000692,Tooth malposition,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000720,Mood swings,Occasional (29-5%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000824,Decreased response to growth hormone stimulation test,Excluded (0%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0000869,Secondary amenorrhea,Occasional (29-5%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0001642,Pulmonic stenosis,Very rare (<4-1%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0001956,Truncal obesity,Very frequent (99-80%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0002967,Cubitus valgus,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0003019,Abnormality of the wrist,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0003028,Abnormality of the ankles,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0008607,Progressive conductive hearing impairment,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0008935,Generalized neonatal hypotonia,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0009824,Upper limb undergrowth,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0010794,Impaired visuospatial constructive cognition,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0011648,Patent ductus arteriosus after birth at term,Occasional (29-5%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0012683,Pineal cyst,Very rare (<4-1%),TAS,,,,[PMID:22166941],y,y +GARD:0022202,Orphanet,529962,ORPHA:529962,47,HP:0200053,Hemihypotrophy of lower limb,Occasional (29-5%),TAS,,,,[PMID:22166941],y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0000331,Short chin,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0000646,Amblyopia,Very rare (<4-1%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0001385,Hip dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0001530,Mild postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0002493,Upper motor neuron dysfunction,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0002942,Thoracic kyphosis,Very rare (<4-1%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0002949,Fused cervical vertebrae,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0012433,Abnormal social behavior,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0025160,Abnormal temper tantrums,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0031936,Delayed ability to walk,Very frequent (99-80%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0040195,Decreased head circumference,Occasional (29-5%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022211,Orphanet,530983,ORPHA:530983,34,HP:0100704,Cerebral visual impairment,Very rare (<4-1%),TAS,,,,"[PMID:29477873, PMID:31578471]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0000126,Hydronephrosis,Very frequent (99-80%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0000637,Long palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0001627,Abnormal heart morphology,Very frequent (99-80%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0001883,Talipes,Frequent (79-30%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0002282,Gray matter heterotopia,Occasional (29-5%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0002579,Gastrointestinal dysmotility,Very frequent (99-80%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0003186,Inverted nipples,Frequent (79-30%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0010442,Polydactyly,Occasional (29-5%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0012811,Wide nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022212,Orphanet,531151,ORPHA:531151,24,HP:0030809,Abnormal tongue morphology,Frequent (79-30%),TAS,,,,"[PMID:24501764, PMID:25348648, PMID:26173930, PMID:29904177]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000023,Inguinal hernia,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000028,Cryptorchidism,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000135,Hypogonadism,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000485,Megalocornea,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000501,Glaucoma,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000508,Ptosis,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000545,Myopia,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000588,Optic disc coloboma,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000609,Optic nerve hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000612,Iris coloboma,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000768,Pectus carinatum,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000894,Short clavicles,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000946,Hypoplastic ilia,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000973,Cutis laxa,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000974,Hyperextensible skin,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0000977,Soft skin,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001004,Lymphedema,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001027,"Soft, doughy skin",Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001043,Prominent scalp veins,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001054,Numerous nevi,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001075,Atrophic scars,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001631,Atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001642,Pulmonic stenosis,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001650,Aortic valve stenosis,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001772,Talipes equinovalgus,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001822,Hallux valgus,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0002089,Pulmonary hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0002091,Restrictive ventilatory defect,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0002209,Sparse scalp hair,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0002659,Increased susceptibility to fractures,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0002761,Generalized joint laxity,Very frequent (99-80%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0002974,Radioulnar synostosis,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0002999,Patellar dislocation,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0003015,Flared metaphysis,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0003016,Metaphyseal widening,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0003048,Radial head subluxation,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0003368,Abnormal femoral head morphology,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0003370,Flat capital femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0003417,Coronal cleft vertebrae,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0003468,Abnormal vertebral morphology,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0004269,Subluxation of the small joints of the hand,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0004442,Sagittal craniosynostosis,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0004568,Beaking of vertebral bodies,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0004970,Ascending tubular aorta aneurysm,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0004993,Slender long bones with narrow diaphyses,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0007787,Posterior subcapsular cataract,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0007957,Corneal opacity,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0008453,Congenital kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0008499,High hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0008807,Acetabular dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0009811,Abnormality of the elbow,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0009944,Partial duplication of thumb phalanx,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0010575,Dysplasia of the femoral head,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0010754,Abnormality of the temporomandibular joint,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0011332,Hemifacial hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0011341,Long upper lip,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0012687,Agenesis of pineal gland,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0040047,Abnormal right hemidiaphragm morphology,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0040160,Generalized osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0100255,Metaphyseal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0100777,Exostoses,Very rare (<4-1%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022214,Orphanet,536471,ORPHA:536471,105,HP:0100864,Short femoral neck,Occasional (29-5%),TAS,,,,"[PMID:28882145, PMID:29931299, PMID:31614862]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0000974,Hyperextensible skin,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0000977,Soft skin,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0001058,Poor wound healing,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0002803,Congenital contracture,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0002828,Multiple joint contractures,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0003044,Shoulder flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0003199,Decreased muscle mass,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0003546,Exercise intolerance,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0003701,Proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0005879,Congenital finger flexion contractures,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0005988,Congenital muscular torticollis,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0006466,Ankle flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0008180,Mildly elevated creatine kinase,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0008366,Contractures involving the joints of the feet,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0008780,Congenital bilateral hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0009473,Joint contracture of the hand,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0010499,Patellar subluxation,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0010862,Delayed fine motor development,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0025335,Delayed ability to stand,Frequent (79-30%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0030319,Weakness of facial musculature,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022215,Orphanet,536516,ORPHA:536516,49,HP:0032152,Keratosis pilaris,Occasional (29-5%),TAS,,,,"[PMID:25821091, PMID:31273343]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000243,Trigonocephaly,Very rare (<4-1%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000377,Abnormal pinna morphology,Very rare (<4-1%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0000987,Atypical scarring of skin,Very frequent (99-80%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001030,Fragile skin,Very frequent (99-80%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001058,Poor wound healing,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001075,Atrophic scars,Frequent (79-30%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001519,Disproportionate tall stature,Frequent (79-30%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001763,Pes planus,Very rare (<4-1%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0002091,Restrictive ventilatory defect,Very rare (<4-1%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0002495,Impaired vibratory sensation,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0002617,Vascular dilatation,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0002624,Abnormal venous morphology,Very rare (<4-1%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0002647,Aortic dissection,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0002705,"High, narrow palate",Very rare (<4-1%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0002761,Generalized joint laxity,Frequent (79-30%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0002943,Thoracic scoliosis,Frequent (79-30%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0002987,Elbow flexion contracture,Very rare (<4-1%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0003199,Decreased muscle mass,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0003324,Generalized muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0003458,EMG: myopathic abnormalities,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0003477,Peripheral axonal neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0003690,Limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0003835,Shoulder subluxation,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0005294,Arterial dissection,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0005659,Thoracic kyphoscoliosis,Very frequent (99-80%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0006532,Recurrent pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0008780,Congenital bilateral hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0020152,Distal joint laxity,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0025019,Arterial rupture,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0025513,Scleral rupture,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0030043,Hip subluxation,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0031158,Widened atrophic scar,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0031189,Wrist drop,Very rare (<4-1%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0031629,Impaired tandem gait,Very rare (<4-1%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0032153,Joint subluxation,Frequent (79-30%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0045052,Abnormality of the brachial nerve plexus,Very rare (<4-1%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022216,Orphanet,1900,ORPHA:1900,66,HP:0100295,Muscle fiber atrophy,Occasional (29-5%),TAS,,,,"[PMID:19760654, PMID:20301635, PMID:25266621]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0000988,Skin rash,Very rare (<4-1%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0001919,Acute kidney injury,Very rare (<4-1%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0002878,Respiratory failure,Very rare (<4-1%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0002904,Hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0003259,Elevated circulating creatinine concentration,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0005521,Disseminated intravascular coagulation,Very rare (<4-1%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0011037,Decreased urine output,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0011112,Abnormality of serum cytokine level,Very frequent (99-80%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0011117,Abnormality of interleukin secretion,Very frequent (99-80%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0012418,Hypoxemia,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0012649,Increased inflammatory response,Very frequent (99-80%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0012664,Reduced ejection fraction,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0012722,Heart block,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0030005,Capillary leak,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0030356,Increased serum interferon-gamma level,Frequent (79-30%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0030783,Increased circulating interleukin 6 concentration,Frequent (79-30%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022228,Orphanet,542323,ORPHA:542323,31,HP:0100598,Pulmonary edema,Occasional (29-5%),TAS,,,,"[PMID:28925994, PMID:30181581, PMID:30753567]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0000603,Central scotoma,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0002134,Abnormality of the basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0002194,Delayed gross motor development,Very frequent (99-80%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0002506,Diffuse cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0007333,Hypoplasia of the frontal lobes,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0008665,Clitoral hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0010862,Delayed fine motor development,Very frequent (99-80%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0012087,Abnormal mitochondrial shape,Frequent (79-30%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0012430,Cerebral white matter hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0012697,Small basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0012794,Periventricular white matter hypodensities,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022231,Orphanet,543470,ORPHA:543470,39,HP:0100602,Preeclampsia,Occasional (29-5%),TAS,,,,"[PMID:29040572, PMID:30250212]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000735,Impaired social interactions,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0000992,Cutaneous photosensitivity,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0002197,Generalized-onset seizure,Very frequent (99-80%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0002370,Poor coordination,Frequent (79-30%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0008770,Obsessive-compulsive trait,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0010832,Abnormality of pain sensation,Very frequent (99-80%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0011150,Myoclonic absence seizure,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0012703,Abnormal subarachnoid space morphology,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0020208,Eating-induced seizure,Frequent (79-30%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0030810,Abnormal tongue physiology,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0040080,Anteverted ears,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0100023,Recurrent hand flapping,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0100259,Postaxial polydactyly,Occasional (29-5%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022232,Orphanet,544254,ORPHA:544254,41,HP:0100738,Abnormal eating behavior,Frequent (79-30%),TAS,,,,"[PMID:30541864, PMID:30685520, PMID:30789692]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0000819,Diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0001269,Hemiparesis,Very rare (<4-1%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0001878,Hemolytic anemia,Very frequent (99-80%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0001919,Acute kidney injury,Very frequent (99-80%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0002102,Pleuritis,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0002153,Hyperkalemia,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0002576,Intussusception,Very rare (<4-1%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0003095,Septic arthritis,Very rare (<4-1%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0005208,Secretory diarrhea,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0005244,Gastrointestinal infarctions,Very rare (<4-1%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0007430,Generalized edema,Very rare (<4-1%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0011037,Decreased urine output,Frequent (79-30%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0011115,Abnormality of chemokine secretion,Frequent (79-30%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0011116,Abnormality of interferon secretion,Frequent (79-30%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0011919,Pleural empyema,Very rare (<4-1%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0011947,Respiratory tract infection,Frequent (79-30%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0012593,Nephrotic range proteinuria,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0025085,Bloody diarrhea,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0030049,Brain abscess,Very rare (<4-1%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0030783,Increased circulating interleukin 6 concentration,Frequent (79-30%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0031368,Intestinal perforation,Very rare (<4-1%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0031691,Severe viral infection,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0031864,Bacteremia,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0032155,Abdominal cramps,Frequent (79-30%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0032169,Severe infection,Very frequent (99-80%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0100282,Acute colitis,Frequent (79-30%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0100519,Anuria,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0100520,Oliguria,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0100704,Cerebral visual impairment,Very rare (<4-1%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022234,Orphanet,544482,ORPHA:544482,52,HP:0100735,Hypertensive crisis,Occasional (29-5%),TAS,,,,"[PMID:25593915, PMID:27768015, PMID:28242109, PMID:28711159, PMID:31232894]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0001667,Right ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0001704,Tricuspid valve prolapse,Occasional (29-5%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0004887,Respiratory failure requiring assisted ventilation,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0005180,Tricuspid regurgitation,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0010772,Anomalous pulmonary venous return,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0030718,Right atrial enlargement,Occasional (29-5%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0031441,Abnormal tricuspid valve annulus morphology,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0031443,Abnormal tricuspid valve leaflet morphology,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022241,Orphanet,555874,ORPHA:555874,20,HP:0031664,Systolic heart murmur,Frequent (79-30%),TAS,,,,"[PMID:16273410, PMID:33076749, PMID:9007786]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0003261,Increased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0011354,Generalized abnormality of skin,Frequent (79-30%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0025528,Annular cutaneous lesion,Occasional (29-5%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0030057,Autoimmune antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0031234,Neutrophilic infiltration of the skin,Very frequent (99-80%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0031292,Cutaneous abscess,Occasional (29-5%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0031539,Linear IgA deposits along the epidermal basement membrane zone,Frequent (79-30%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0032335,Monoclonal elevation of circulating IgA,Occasional (29-5%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0100279,Ulcerative colitis,Occasional (29-5%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0100792,Acantholysis,Frequent (79-30%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0200035,Skin plaque,Frequent (79-30%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0200037,Skin vesicle,Very frequent (99-80%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0200039,Pustule,Frequent (79-30%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0200041,Skin erosion,Frequent (79-30%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022242,Orphanet,555905,ORPHA:555905,19,HP:0200097,Oral mucosal blisters,Frequent (79-30%),TAS,,,,"[PMID:26566588, PMID:27279313, PMID:30085605, PMID:31812619]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0000811,Abnormal external genitalia,Excluded (0%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0000848,Increased circulating renin level,Frequent (79-30%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0001278,Orthostatic hypotension,Frequent (79-30%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0001944,Dehydration,Frequent (79-30%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0002153,Hyperkalemia,Very frequent (99-80%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0002902,Hyponatremia,Very frequent (99-80%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0004319,Decreased circulating aldosterone level,Frequent (79-30%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0012112,Abnormal circulating corticosterone level,Frequent (79-30%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0012606,Renal sodium wasting,Very frequent (99-80%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022243,Orphanet,556030,ORPHA:556030,16,HP:0025436,Elevated serum 11-deoxycortisol,Frequent (79-30%),TAS,,,,"[PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022244,Orphanet,556037,ORPHA:556037,14,HP:0000811,Abnormal external genitalia,Excluded (0%),TAS,,,,"[PMID:11701710, PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022244,Orphanet,556037,ORPHA:556037,14,HP:0000848,Increased circulating renin level,Occasional (29-5%),TAS,,,,"[PMID:11701710, PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022244,Orphanet,556037,ORPHA:556037,14,HP:0001278,Orthostatic hypotension,Occasional (29-5%),TAS,,,,"[PMID:11701710, PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022244,Orphanet,556037,ORPHA:556037,14,HP:0001508,Failure to thrive,Very rare (<4-1%),TAS,,,,"[PMID:11701710, PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022244,Orphanet,556037,ORPHA:556037,14,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:11701710, PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022244,Orphanet,556037,ORPHA:556037,14,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:11701710, PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022244,Orphanet,556037,ORPHA:556037,14,HP:0002153,Hyperkalemia,Occasional (29-5%),TAS,,,,"[PMID:11701710, PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022244,Orphanet,556037,ORPHA:556037,14,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:11701710, PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022244,Orphanet,556037,ORPHA:556037,14,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:11701710, PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022244,Orphanet,556037,ORPHA:556037,14,HP:0004319,Decreased circulating aldosterone level,Occasional (29-5%),TAS,,,,"[PMID:11701710, PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022244,Orphanet,556037,ORPHA:556037,14,HP:0008897,Postnatal growth retardation,Very rare (<4-1%),TAS,,,,"[PMID:11701710, PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022244,Orphanet,556037,ORPHA:556037,14,HP:0012112,Abnormal circulating corticosterone level,Occasional (29-5%),TAS,,,,"[PMID:11701710, PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022244,Orphanet,556037,ORPHA:556037,14,HP:0012606,Renal sodium wasting,Occasional (29-5%),TAS,,,,"[PMID:11701710, PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022244,Orphanet,556037,ORPHA:556037,14,HP:0025436,Elevated serum 11-deoxycortisol,Occasional (29-5%),TAS,,,,"[PMID:11701710, PMID:1594605, PMID:1601005, PMID:6991942, PMID:9360501]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0001396,Cholestasis,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0002037,Inflammation of the large intestine,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0002611,Cholestatic liver disease,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0002904,Hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0003155,Elevated circulating alkaline phosphatase concentration,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0003237,Increased circulating IgG level,Frequent (79-30%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0003262,Smooth muscle antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0003493,Antinuclear antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0003496,Increased circulating IgM level,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0011040,Abnormality of the intrahepatic bile duct,Frequent (79-30%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0025344,Interlobular bile duct destruction,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0030057,Autoimmune antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0030167,Antimitochondrial antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0030908,Liver kidney microsome type 1 antibody positivity,Very rare (<4-1%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0030909,Anti-liver cytosolic antigen type 1 antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0030948,Elevated gamma-glutamyltransferase level,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0030988,Granulomatous cholangitis,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0030991,Sclerosing cholangitis,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0032220,Interface hepatitis,Very frequent (99-80%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0032252,Granuloma,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0100279,Ulcerative colitis,Occasional (29-5%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022250,Orphanet,562639,ORPHA:562639,27,HP:0100889,Abnormality of the ductus choledochus,Frequent (79-30%),TAS,,,,"[PMID:22817525, PMID:28690845]",y,y +GARD:0022254,Orphanet,563609,ORPHA:563609,8,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,"[PMID:12210471, PMID:15800854, PMID:7294060]",y,y +GARD:0022254,Orphanet,563609,ORPHA:563609,8,HP:0000835,Adrenal hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:12210471, PMID:15800854, PMID:7294060]",y,y +GARD:0022254,Orphanet,563609,ORPHA:563609,8,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:12210471, PMID:15800854, PMID:7294060]",y,y +GARD:0022254,Orphanet,563609,ORPHA:563609,8,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,"[PMID:12210471, PMID:15800854, PMID:7294060]",y,y +GARD:0022254,Orphanet,563609,ORPHA:563609,8,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,"[PMID:12210471, PMID:15800854, PMID:7294060]",y,y +GARD:0022254,Orphanet,563609,ORPHA:563609,8,HP:0010516,Thymus hyperplasia,Occasional (29-5%),TAS,,,,"[PMID:12210471, PMID:15800854, PMID:7294060]",y,y +GARD:0022254,Orphanet,563609,ORPHA:563609,8,HP:0030244,Maternal fever in pregnancy,Occasional (29-5%),TAS,,,,"[PMID:12210471, PMID:15800854, PMID:7294060]",y,y +GARD:0022254,Orphanet,563609,ORPHA:563609,8,HP:0410030,Cleft lip,Occasional (29-5%),TAS,,,,"[PMID:12210471, PMID:15800854, PMID:7294060]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0000929,Abnormal skull morphology,Frequent (79-30%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0001360,Holoprosencephaly,Frequent (79-30%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0002683,Abnormality of the calvaria,Frequent (79-30%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0005466,Hypoplasia of the frontal bone,Frequent (79-30%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0010627,Anterior pituitary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0011756,Posterior pituitary agenesis,Occasional (29-5%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0011821,Abnormal facial skeleton morphology,Occasional (29-5%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022255,Orphanet,563612,ORPHA:563612,16,HP:0030244,Maternal fever in pregnancy,Occasional (29-5%),TAS,,,,"[PMID:22902849, PMID:25551113, PMID:30421543]",y,y +GARD:0022266,Orphanet,564178,ORPHA:564178,12,HP:0000121,Nephrocalcinosis,Frequent (79-30%),TAS,,,,[PMID:30388404],y,y +GARD:0022266,Orphanet,564178,ORPHA:564178,12,HP:0000128,Renal potassium wasting,Frequent (79-30%),TAS,,,,[PMID:30388404],y,y +GARD:0022266,Orphanet,564178,ORPHA:564178,12,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,[PMID:30388404],y,y +GARD:0022266,Orphanet,564178,ORPHA:564178,12,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:30388404],y,y +GARD:0022266,Orphanet,564178,ORPHA:564178,12,HP:0002133,Status epilepticus,Frequent (79-30%),TAS,,,,[PMID:30388404],y,y +GARD:0022266,Orphanet,564178,ORPHA:564178,12,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,[PMID:30388404],y,y +GARD:0022266,Orphanet,564178,ORPHA:564178,12,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,[PMID:30388404],y,y +GARD:0022266,Orphanet,564178,ORPHA:564178,12,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,[PMID:30388404],y,y +GARD:0022266,Orphanet,564178,ORPHA:564178,12,HP:0002917,Hypomagnesemia,Frequent (79-30%),TAS,,,,[PMID:30388404],y,y +GARD:0022266,Orphanet,564178,ORPHA:564178,12,HP:0005567,Renal magnesium wasting,Frequent (79-30%),TAS,,,,[PMID:30388404],y,y +GARD:0022266,Orphanet,564178,ORPHA:564178,12,HP:0006872,Cerebral hypoplasia,Frequent (79-30%),TAS,,,,[PMID:30388404],y,y +GARD:0022266,Orphanet,564178,ORPHA:564178,12,HP:0012726,Episodic hypokalemia,Frequent (79-30%),TAS,,,,[PMID:30388404],y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0000478,Abnormality of the eye,Very rare (<4-1%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0001430,Abnormality of the calf musculature,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0001435,Abnormality of the shoulder girdle musculature,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0001677,Coronary artery atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0001681,Angina pectoris,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0001744,Splenomegaly,Very rare (<4-1%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0001922,Vacuolated lymphocytes,Very frequent (99-80%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0003756,Skeletal myopathy,Very frequent (99-80%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0003805,Rimmed vacuoles,Occasional (29-5%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0005145,Coronary artery stenosis,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0008064,Ichthyosis,Excluded (0%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0009058,Increased muscle lipid content,Very frequent (99-80%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0009805,Low-output congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0011123,Inflammatory abnormality of the skin,Occasional (29-5%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0031331,Abnormal cardiomyocyte morphology,Very frequent (99-80%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0031684,Renal artery atherosclerosis,Occasional (29-5%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022267,Orphanet,565612,ORPHA:565612,29,HP:0032141,Precordial pain,Frequent (79-30%),TAS,,,,"[PMID:24836204, PMID:31186072, PMID:32564019]",y,y +GARD:0022271,Orphanet,565899,ORPHA:565899,13,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:27066570],y,y +GARD:0022271,Orphanet,565899,ORPHA:565899,13,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:27066570],y,y +GARD:0022271,Orphanet,565899,ORPHA:565899,13,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,[PMID:27066570],y,y +GARD:0022271,Orphanet,565899,ORPHA:565899,13,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,[PMID:27066570],y,y +GARD:0022271,Orphanet,565899,ORPHA:565899,13,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,[PMID:27066570],y,y +GARD:0022271,Orphanet,565899,ORPHA:565899,13,HP:0003698,Difficulty standing,Occasional (29-5%),TAS,,,,[PMID:27066570],y,y +GARD:0022271,Orphanet,565899,ORPHA:565899,13,HP:0005912,Biliary atresia,Occasional (29-5%),TAS,,,,[PMID:27066570],y,y +GARD:0022271,Orphanet,565899,ORPHA:565899,13,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,[PMID:27066570],y,y +GARD:0022271,Orphanet,565899,ORPHA:565899,13,HP:0008981,Calf muscle hypertrophy,Frequent (79-30%),TAS,,,,[PMID:27066570],y,y +GARD:0022271,Orphanet,565899,ORPHA:565899,13,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,[PMID:27066570],y,y +GARD:0022271,Orphanet,565899,ORPHA:565899,13,HP:0009046,Difficulty running,Occasional (29-5%),TAS,,,,[PMID:27066570],y,y +GARD:0022271,Orphanet,565899,ORPHA:565899,13,HP:0011892,Low levels of vitamin K,Occasional (29-5%),TAS,,,,[PMID:27066570],y,y +GARD:0022271,Orphanet,565899,ORPHA:565899,13,HP:0100614,Myositis,Frequent (79-30%),TAS,,,,[PMID:27066570],y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0005063,"Fragmented, irregular epiphyses",Occasional (29-5%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0005086,Knee osteoarthritis,Occasional (29-5%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0005656,Positional foot deformity,Frequent (79-30%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0008110,Equinovarus deformity,Occasional (29-5%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0008124,Talipes calcaneovarus,Occasional (29-5%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0010505,Limitation of movement at ankles,Frequent (79-30%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0010885,Avascular necrosis,Frequent (79-30%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0012098,Edema of the dorsum of feet,Frequent (79-30%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0025238,Foot pain,Very frequent (99-80%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0030871,Facet joint arthrosis,Frequent (79-30%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0032153,Joint subluxation,Occasional (29-5%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0100339,Abnormality of the os naviculare pedis,Frequent (79-30%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0100535,Tibiofibular diastasis,Occasional (29-5%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0100662,Chondritis,Frequent (79-30%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0100694,Tibial torsion,Occasional (29-5%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022283,Orphanet,566943,ORPHA:566943,21,HP:0100925,Sclerosis of foot bone,Frequent (79-30%),TAS,,,,"[PMID:27145453, PMID:30838149]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0000099,Glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0000100,Nephrotic syndrome,Frequent (79-30%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0000155,Oral ulcer,Occasional (29-5%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0001966,Abnormal glomerular mesangium morphology,Occasional (29-5%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0002715,Abnormality of the immune system,Very rare (<4-1%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0002907,Microscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0002960,Autoimmunity,Excluded (0%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0003259,Elevated circulating creatinine concentration,Occasional (29-5%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0004431,Complement deficiency,Frequent (79-30%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0005421,Decreased serum complement C3,Frequent (79-30%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0012576,Glomerular C3 deposition,Occasional (29-5%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0020151,Anti-dsDNA antibody positivity,Excluded (0%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0045042,Decreased serum complement C4,Frequent (79-30%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0045073,Serositis,Occasional (29-5%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022285,Orphanet,567544,ORPHA:567544,22,HP:0100769,Synovitis,Occasional (29-5%),TAS,,,,"[PMID:27270291, PMID:28340077]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0000034,Hydrocele testis,Occasional (29-5%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0000097,Focal segmental glomerulosclerosis,Frequent (79-30%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0000282,Facial edema,Frequent (79-30%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0001541,Ascites,Very rare (<4-1%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0002202,Pleural effusion,Very rare (<4-1%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0002204,Pulmonary embolism,Very rare (<4-1%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0002907,Microscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0004420,Arterial thrombosis,Very rare (<4-1%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0004431,Complement deficiency,Very rare (<4-1%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0004936,Venous thrombosis,Very rare (<4-1%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0011947,Respiratory tract infection,Occasional (29-5%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0012050,Anasarca,Very rare (<4-1%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0012393,Allergy,Occasional (29-5%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0012579,Minimal change glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0012587,Macroscopic hematuria,Very rare (<4-1%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0012592,Albuminuria,Very frequent (99-80%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022286,Orphanet,567546,ORPHA:567546,28,HP:0100724,Hypercoagulability,Frequent (79-30%),TAS,,,,"[PMID:24511128, PMID:28117080, PMID:29058154, PMID:29169714]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0001395,Hepatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0001399,Hepatic failure,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0002908,Conjugated hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0004359,Abnormal circulating fatty-acid concentration,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0006560,Biliary hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0011113,Abnormality of cytokine secretion,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0011473,Villous atrophy,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0030948,Elevated gamma-glutamyltransferase level,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022295,Orphanet,567983,ORPHA:567983,22,HP:0032245,Abnormal metabolism,Frequent (79-30%),TAS,,,,"[PMID:31872510, PMID:32728621]",y,y +GARD:0022299,Orphanet,568051,ORPHA:568051,13,HP:0000282,Facial edema,Occasional (29-5%),TAS,,,,"[PMID:20537300, PMID:21266381, PMID:30061138]",y,y +GARD:0022299,Orphanet,568051,ORPHA:568051,13,HP:0000508,Ptosis,Very rare (<4-1%),TAS,,,,"[PMID:20537300, PMID:21266381, PMID:30061138]",y,y +GARD:0022299,Orphanet,568051,ORPHA:568051,13,HP:0001581,Recurrent skin infections,Occasional (29-5%),TAS,,,,"[PMID:20537300, PMID:21266381, PMID:30061138]",y,y +GARD:0022299,Orphanet,568051,ORPHA:568051,13,HP:0001785,Ankle swelling,Frequent (79-30%),TAS,,,,"[PMID:20537300, PMID:21266381, PMID:30061138]",y,y +GARD:0022299,Orphanet,568051,ORPHA:568051,13,HP:0002619,Varicose veins,Occasional (29-5%),TAS,,,,"[PMID:20537300, PMID:21266381, PMID:30061138]",y,y +GARD:0022299,Orphanet,568051,ORPHA:568051,13,HP:0003550,Predominantly lower limb lymphedema,Frequent (79-30%),TAS,,,,"[PMID:20537300, PMID:21266381, PMID:30061138]",y,y +GARD:0022299,Orphanet,568051,ORPHA:568051,13,HP:0003759,Hypoplasia of lymphatic vessels,Frequent (79-30%),TAS,,,,"[PMID:20537300, PMID:21266381, PMID:30061138]",y,y +GARD:0022299,Orphanet,568051,ORPHA:568051,13,HP:0005293,Venous insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20537300, PMID:21266381, PMID:30061138]",y,y +GARD:0022299,Orphanet,568051,ORPHA:568051,13,HP:0007514,Edema of the dorsum of hands,Occasional (29-5%),TAS,,,,"[PMID:20537300, PMID:21266381, PMID:30061138]",y,y +GARD:0022299,Orphanet,568051,ORPHA:568051,13,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,"[PMID:20537300, PMID:21266381, PMID:30061138]",y,y +GARD:0022299,Orphanet,568051,ORPHA:568051,13,HP:0031188,Genital edema,Very rare (<4-1%),TAS,,,,"[PMID:20537300, PMID:21266381, PMID:30061138]",y,y +GARD:0022299,Orphanet,568051,ORPHA:568051,13,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,"[PMID:20537300, PMID:21266381, PMID:30061138]",y,y +GARD:0022299,Orphanet,568051,ORPHA:568051,13,HP:0100766,Abnormal lymphatic vessel morphology,Frequent (79-30%),TAS,,,,"[PMID:20537300, PMID:21266381, PMID:30061138]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000013,Hypoplasia of the uterus,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000144,Decreased fertility,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000537,Epicanthus inversus,Very frequent (99-80%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000539,Abnormality of refraction,Frequent (79-30%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000633,Decreased lacrimation,Frequent (79-30%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000646,Amblyopia,Frequent (79-30%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000656,Ectropion,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000815,Hypergonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000869,Secondary amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0000876,Oligomenorrhea,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0007656,Lacrimal gland aplasia,Frequent (79-30%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0007732,Lacrimal gland hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0007835,S-shaped palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0008209,Premature ovarian insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0008214,Decreased serum estradiol,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0008222,Female infertility,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0008232,Elevated circulating follicle stimulating hormone level,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0008233,Decreased circulating progesterone,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0010464,Streak ovary,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0010748,Ectopic lacrimal punctum,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0011481,Abnormal lacrimal duct morphology,Frequent (79-30%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0011969,Elevated circulating luteinizing hormone level,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0025572,Punctal stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022312,Orphanet,572333,ORPHA:572333,35,HP:0032514,Duplicated lacrimal punctum,Occasional (29-5%),TAS,,,,"[PMID:20301614, PMID:27914838, PMID:31048069, PMID:31077882, PMID:33806295]",y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0000009,Functional abnormality of the bladder,Frequent (79-30%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0000011,Neurogenic bladder,Frequent (79-30%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0000075,Renal duplication,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0000925,Abnormality of the vertebral column,Frequent (79-30%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0000953,Hyperpigmentation of the skin,Very rare (<4-1%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0000998,Hypertrichosis,Frequent (79-30%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0001026,Penetrating foot ulcers,Very rare (<4-1%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0002144,Tethered cord,Very rare (<4-1%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0002385,Paraparesis,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0002937,Hemivertebrae,Very rare (<4-1%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0003316,Butterfly vertebrae,Very rare (<4-1%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0003396,Syringomyelia,Frequent (79-30%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0003419,Low back pain,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0004696,Talipes cavus equinovarus,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0005306,Capillary hemangioma,Very rare (<4-1%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0005857,Cervical spina bifida,Very rare (<4-1%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0009792,Teratoma,Very rare (<4-1%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0010302,Spinal cord tumor,Very rare (<4-1%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0010781,Skin dimple,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0012032,Lipoma,Very rare (<4-1%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0012514,Lower limb pain,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0025480,Lipomyelomeningocele,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0025488,Detrusor sphincter dyssynergia,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0030725,Neurenteric cyst,Very rare (<4-1%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0031283,Tufted hairs,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0100559,Lower limb asymmetry,Very rare (<4-1%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0100565,Hydromyelia,Very rare (<4-1%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0100702,Arachnoid cyst,Very rare (<4-1%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0100711,Abnormal thoracic spine morphology,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022317,Orphanet,573278,ORPHA:573278,49,HP:0100712,Abnormal lumbar spine morphology,Occasional (29-5%),TAS,,,,[PMID:27256785],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0001832,Abnormal metatarsal morphology,Occasional (29-5%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0002815,Abnormality of the knee,Frequent (79-30%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0002942,Thoracic kyphosis,Frequent (79-30%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0002987,Elbow flexion contracture,Very frequent (99-80%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0003019,Abnormality of the wrist,Very frequent (99-80%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0003020,Enlargement of the wrists,Very frequent (99-80%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0003207,Arterial calcification,Occasional (29-5%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0003276,Pelvic bone exostoses,Occasional (29-5%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0003306,Spinal rigidity,Very frequent (99-80%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0004417,Intermittent claudication,Frequent (79-30%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0004934,Vascular calcification,Very frequent (99-80%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0005116,Arterial tortuosity,Very frequent (99-80%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0005922,Abnormal hand morphology,Very frequent (99-80%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0006135,Decreased finger mobility,Very frequent (99-80%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0006248,Limited wrist movement,Very frequent (99-80%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0008800,Limited hip movement,Very frequent (99-80%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0010833,Spontaneous pain sensation,Frequent (79-30%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0011004,Abnormal systemic arterial morphology,Very frequent (99-80%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0012531,Pain,Frequent (79-30%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0025015,Abnormal vascular morphology,Very frequent (99-80%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0030314,Periostosis,Frequent (79-30%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0030834,Shoulder pain,Frequent (79-30%),TAS,,,,[PMID:13149051],y,y +GARD:0022527,Orphanet,98028,ORPHA:98028,31,HP:0030839,Knee pain,Frequent (79-30%),TAS,,,,[PMID:13149051],y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0000510,Rod-cone dystrophy,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0000546,Retinal degeneration,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0001156,Brachydactyly,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0001321,Cerebellar hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0001929,Reduced factor XI activity,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0002243,Protein-losing enteropathy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0002625,Deep venous thrombosis,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0003256,Abnormality of the coagulation cascade,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0003563,Decreased LDL cholesterol concentration,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0003642,Type I transferrin isoform profile,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0004855,Reduced protein S activity,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0005543,Reduced protein C activity,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0006118,Shortening of all distal phalanges of the fingers,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0008373,Puberty and gonadal disorders,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0012379,Abnormal enzyme/coenzyme activity,Obligate (100%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0030348,Increased circulating androgen concentration,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009829,Orphanet,79320,ORPHA:79320,35,HP:0040246,Reduced antithrombin antigen,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28108845, PMID:30740408, PMID:34441372]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0000707,Abnormality of the nervous system,Excluded (0%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0000825,Hyperinsulinemic hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0001395,Hepatic fibrosis,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0001409,Portal hypertension,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0001410,Decreased liver function,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0001929,Reduced factor XI activity,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0001977,Abnormal thrombosis,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0002239,Gastrointestinal hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0002243,Protein-losing enteropathy,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0003073,Hypoalbuminemia,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0003256,Abnormality of the coagulation cascade,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0004855,Reduced protein S activity,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0005543,Reduced protein C activity,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0012379,Abnormal enzyme/coenzyme activity,Obligate (100%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009830,Orphanet,79319,ORPHA:79319,22,HP:0040246,Reduced antithrombin antigen,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:32266963]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0000243,Trigonocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0001395,Hepatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0001847,Long hallux,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0001976,Reduced antithrombin III activity,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0002057,Prominent glabella,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0002164,Nail dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0003241,External genital hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0003560,Muscular dystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0004855,Reduced protein S activity,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0005469,Flat occiput,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0005484,Secondary microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0005543,Reduced protein C activity,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0006879,Pontocerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0007333,Hypoplasia of the frontal lobes,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0009826,Limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0010804,Tented upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0010806,U-Shaped upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0010818,Generalized tonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0011152,Early onset absence seizures,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0025404,Abnormal visual fixation,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0100321,Abnormal dentate nucleus morphology,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009831,Orphanet,79322,ORPHA:79322,59,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:27481510]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0000242,Parietal bossing,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0000260,Wide anterior fontanel,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0000803,Renal cortical cysts,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0003642,Type I transferrin isoform profile,Very frequent (99-80%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0005478,Prominent frontal sinuses,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0007965,Undetectable visual evoked potentials,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0008529,Absence of acoustic reflex,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0025474,Erythematous plaque,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0030353,Decreased serum insulin-like growth factor 1,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009832,Orphanet,79323,ORPHA:79323,26,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:11733564, PMID:20301507, PMID:28122681, PMID:28484880]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000119,Abnormality of the genitourinary system,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000253,Progressive microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000759,Abnormal peripheral nervous system morphology,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0000969,Edema,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001561,Polyhydramnios,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001582,Redundant skin,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001655,Patent foramen ovale,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001792,Small nail,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001929,Reduced factor XI activity,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001988,Recurrent hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0002011,Morphological central nervous system abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0002257,Chronic rhinitis,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0002389,Cavum septum pellucidum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0002566,Intestinal malrotation,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0002902,Hyponatremia,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0003026,Short long bone,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0003049,Ulnar deviation of the wrist,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0003146,Hypocholesterolemia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0003186,Inverted nipples,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0003256,Abnormality of the coagulation cascade,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0003645,Prolonged partial thromboplastin time,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0004855,Reduced protein S activity,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0005543,Reduced protein C activity,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0006532,Recurrent pneumonia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0008151,Prolonged prothrombin time,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0009124,Abnormal adipose tissue morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0009623,Proximal placement of thumb,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0010557,Overlapping fingers,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0010976,B lymphocytopenia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0011327,Posterior plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0011623,Muscular ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0011849,Abnormal bone ossification,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0012379,Abnormal enzyme/coenzyme activity,Obligate (100%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0012766,Widened cerebral subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0030353,Decreased serum insulin-like growth factor 1,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0040246,Reduced antithrombin antigen,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0100776,Recurrent pharyngitis,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0100807,Long fingers,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0200128,Biventricular hypertrophy,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0410018,Recurrent ear infections,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0410240,Abnormal circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0410242,Abnormal circulating IgG level,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0410243,Abnormal circulating IgM level,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0410263,Brain imaging abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0410295,Complete or near-complete absence of specific antibody response to tetanus vaccine,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009833,Orphanet,79324,ORPHA:79324,93,HP:0410305,Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31481313]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0000973,Cutis laxa,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001001,Abnormality of subcutaneous fat tissue,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001789,Hydrops fetalis,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001929,Reduced factor XI activity,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001976,Reduced antithrombin III activity,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0002352,Leukoencephalopathy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0002415,Leukodystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0003256,Abnormality of the coagulation cascade,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0003642,Type I transferrin isoform profile,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0005543,Reduced protein C activity,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0011024,Abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0011121,Abnormality of skin morphology,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0025356,Psychomotor retardation,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009834,Orphanet,79325,ORPHA:79325,48,HP:0100678,Premature skin wrinkling,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26066342]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000089,Renal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000692,Tooth malposition,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000789,Infertility,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001195,Single umbilical artery,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001374,Congenital hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001623,Breech presentation,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001642,Pulmonic stenosis,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001650,Aortic valve stenosis,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0001660,Truncus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0002562,Low-set nipples,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0002828,Multiple joint contractures,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0003028,Abnormality of the ankles,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0004397,Ectopic anus,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0004467,Preauricular pit,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0005401,Recurrent candida infections,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0005815,Supernumerary ribs,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0005989,Redundant neck skin,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0009101,Submucous cleft lip,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0009765,Low hanging columella,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0012714,Severe hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0012802,Broad jaw,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009835,Orphanet,96170,ORPHA:96170,80,HP:0030820,Hooded eyelid,Frequent (79-30%),TAS,,,,"[PMID:10577913, PMID:19606488, PMID:3720005]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0001928,Abnormality of coagulation,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0002521,Hypsarrhythmia,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0003642,Type I transferrin isoform profile,Very frequent (99-80%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0006808,Cerebral hypomyelination,Occasional (29-5%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0012751,Abnormal basal ganglia MRI signal intensity,Occasional (29-5%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009836,Orphanet,79326,ORPHA:79326,25,HP:0030890,Hyperintensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,"[PMID:12684507, PMID:20301507, PMID:30397276]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000519,Developmental cataract,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000662,Nyctalopia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0000998,Hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001337,Tremor,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001344,Absent speech,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001558,Decreased fetal movement,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001976,Reduced antithrombin III activity,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0001989,Fetal akinesia sequence,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0002283,Global brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0002304,Akinesia,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0002401,Stroke-like episode,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0002521,Hypsarrhythmia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0002540,Inability to walk,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0003429,CNS hypomyelination,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0004855,Reduced protein S activity,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0009062,Infantile axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0009125,Lipodystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0010781,Skin dimple,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0010845,EEG with generalized slow activity,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0011097,Epileptic spasm,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0011153,Focal motor seizure,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0012050,Anasarca,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0012168,Head-banging,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0012172,Stereotypical body rocking,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0012512,Diffuse optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0025534,Ocular melanocytosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0030213,Emotional blunting,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0200134,Epileptic encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009837,Orphanet,86309,ORPHA:86309,69,HP:0410263,Brain imaging abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:30117111]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0000253,Progressive microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0001410,Decreased liver function,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0001871,Abnormality of blood and blood-forming tissues,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0002028,Chronic diarrhea,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0002243,Protein-losing enteropathy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0011024,Abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009838,Orphanet,79327,ORPHA:79327,33,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:26931382]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000105,Enlarged kidney,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000253,Progressive microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000260,Wide anterior fontanel,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000270,Delayed cranial suture closure,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000308,Microretrognathia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000444,Convex nasal ridge,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000473,Torticollis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000474,Thickened nuchal skin fold,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000586,Shallow orbits,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000813,Bicornuate uterus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0000998,Hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001405,Periportal fibrosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001407,Hepatic cysts,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001698,Pericardial effusion,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0002265,Large fleshy ears,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0002557,Hypoplastic nipples,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0003015,Flared metaphysis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0003026,Short long bone,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0003186,Inverted nipples,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0003375,Narrow greater sciatic notch,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0005133,Right ventricular dilatation,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0005343,Hypoplasia of the bladder,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0007385,Aplasia cutis congenita of scalp,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0008724,Hypoplasia of the ovary,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0008776,Abnormal renal artery morphology,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0008905,Rhizomelia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0009004,Hypoplasia of the musculature,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0009125,Lipodystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0009487,Ulnar deviation of the hand,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0010763,Low insertion of columella,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0011103,Abnormal left ventricular outflow tract morphology,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0011473,Villous atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0011849,Abnormal bone ossification,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0030215,Inappropriate crying,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0032464,Ureteral hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0040021,Radial deviation of the thumb,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009839,Orphanet,79328,ORPHA:79328,86,HP:0100865,Broad ischia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28484880, PMID:28932688]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0001976,Reduced antithrombin III activity,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0003256,Abnormality of the coagulation cascade,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0003563,Decreased LDL cholesterol concentration,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0003645,Prolonged partial thromboplastin time,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0004855,Reduced protein S activity,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0005543,Reduced protein C activity,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0005989,Redundant neck skin,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0009062,Infantile axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0011003,High myopia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0011123,Inflammatory abnormality of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0012301,Type II transferrin isoform profile,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009841,Orphanet,79332,ORPHA:79332,34,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:21920538, PMID:28139241, PMID:31800099]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0000253,Progressive microcephaly,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0001954,Recurrent fever,Very frequent (99-80%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0007392,Excessive wrinkled skin,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0012157,Subcortical cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0012301,Type II transferrin isoform profile,Very frequent (99-80%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0012444,Brain atrophy,Very frequent (99-80%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009842,Orphanet,79333,ORPHA:79333,33,HP:0100807,Long fingers,Occasional (29-5%),TAS,,,,"[PMID:19577670, PMID:20301507]",y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0000421,Epistaxis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,,y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0001901,Polycythemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0001907,Thromboembolism,Occasional (29-5%),TAS,,,,,y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0002321,Vertigo,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0002875,Exertional dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0004936,Venous thrombosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0011902,Abnormal hemoglobin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009843,Orphanet,90042,ORPHA:90042,15,HP:0012735,Cough,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0000055,Abnormality of female external genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0001053,Hypopigmented skin patches,Frequent (79-30%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0001611,Nasal speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0001620,High pitched voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0001956,Truncal obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0002617,Vascular dilatation,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0002777,Tracheal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0002812,Coxa vara,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0002866,Hypoplastic iliac wing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0003275,Narrow pelvis bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0003498,Disproportionate short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0007565,Multiple cafe-au-lait spots,Frequent (79-30%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0009906,Aplasia/Hypoplasia of the earlobes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0045025,Narrow palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0100545,Arterial stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0100659,Abnormal cerebral vascular morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009844,Orphanet,2637,ORPHA:2637,52,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0009846,Orphanet,168796,ORPHA:168796,7,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,[PMID:18611980],y,y +GARD:0009846,Orphanet,168796,ORPHA:168796,7,HP:0001644,Dilated cardiomyopathy,Very frequent (99-80%),TAS,,,,[PMID:18611980],y,y +GARD:0009846,Orphanet,168796,ORPHA:168796,7,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,[PMID:18611980],y,y +GARD:0009846,Orphanet,168796,ORPHA:168796,7,HP:0005115,Supraventricular arrhythmia,Very frequent (99-80%),TAS,,,,[PMID:18611980],y,y +GARD:0009846,Orphanet,168796,ORPHA:168796,7,HP:0005150,Abnormal atrioventricular conduction,Very frequent (99-80%),TAS,,,,[PMID:18611980],y,y +GARD:0009846,Orphanet,168796,ORPHA:168796,7,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,[PMID:18611980],y,y +GARD:0009846,Orphanet,168796,ORPHA:168796,7,HP:0011702,Abnormal electrophysiology of sinoatrial node origin,Very frequent (99-80%),TAS,,,,[PMID:18611980],y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0000889,Abnormal clavicle morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0001161,Hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0001555,Asymmetry of the thorax,Occasional (29-5%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0002997,Abnormality of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0003019,Abnormality of the wrist,Occasional (29-5%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0003043,Abnormal shoulder morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0003063,Abnormality of the humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0009601,Aplasia/Hypoplasia of the thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0009811,Abnormality of the elbow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0009908,Anterior creases of earlobe,Occasional (29-5%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0010044,Short 4th metacarpal,Frequent (79-30%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0010047,Short 5th metacarpal,Frequent (79-30%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009847,Orphanet,1350,ORPHA:1350,25,HP:0100556,Hemiatrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0000307,Pointed chin,Occasional (29-5%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0002209,Sparse scalp hair,Occasional (29-5%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0002251,Aganglionic megacolon,Very frequent (99-80%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,[PMID:12687674],y,y +GARD:0009849,Orphanet,66629,ORPHA:66629,23,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,[PMID:12687674],y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0000499,Abnormal eyelash morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0001539,Omphalocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0001620,High pitched voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0002000,Short columella,Frequent (79-30%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0005338,Sparse lateral eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0005956,Anteroposteriorly shortened larynx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0008749,Laryngeal hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009850,Orphanet,3164,ORPHA:3164,21,HP:0009555,Hypoplasia of the pharynx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0001238,Slender finger,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0001388,Joint laxity,Very frequent (99-80%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0001602,Laryngeal stenosis,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0001832,Abnormal metatarsal morphology,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0002651,Spondyloepimetaphyseal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0002656,Epiphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0002663,Delayed epiphyseal ossification,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0002761,Generalized joint laxity,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0003025,Metaphyseal irregularity,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0003048,Radial head subluxation,Occasional (29-5%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0003088,Premature osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0003370,Flat capital femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0004875,Neonatal inspiratory stridor,Occasional (29-5%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0005619,Thoracolumbar kyphosis,Occasional (29-5%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0006014,Abnormally shaped carpal bones,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0006236,Slender metacarpals,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0006536,Airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0008755,Laryngotracheomalacia,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0008857,Neonatal short-trunk short stature,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0009815,Aplasia/hypoplasia of the extremities,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0010674,Abnormality of the curvature of the vertebral column,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0012095,Multiple joint dislocation,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0030043,Hip subluxation,Occasional (29-5%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0031367,Metaphyseal striations,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0040064,Abnormality of limbs,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009866,Orphanet,93360,ORPHA:93360,41,HP:0100168,Fragmented epiphyses,Frequent (79-30%),TAS,,,,"[PMID:22152677, PMID:22152678]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0000640,Gaze-evoked nystagmus,Occasional (29-5%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0001152,Saccadic smooth pursuit,Occasional (29-5%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0002600,Hyporeflexia of lower limbs,Occasional (29-5%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0005109,Abnormality of the Achilles tendon,Frequent (79-30%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009867,Orphanet,98763,ORPHA:98763,15,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:10939565, PMID:20301573]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0000825,Hyperinsulinemic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0001289,Confusion,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0001397,Hepatic steatosis,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0001639,Hypertrophic cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0001644,Dilated cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0001657,Prolonged QT interval,Very rare (<4-1%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0001985,Hypoketotic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0001987,Hyperammonemia,Occasional (29-5%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0001998,Neonatal hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0002173,Hypoglycemic seizures,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0002605,Hepatic necrosis,Very rare (<4-1%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0002913,Myoglobinuria,Very rare (<4-1%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0003128,Lactic acidosis,Occasional (29-5%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0003215,Dicarboxylic aciduria,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0003234,Decreased plasma carnitine,Occasional (29-5%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0003508,Proportionate short stature,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0006554,Acute hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0006929,Hypoglycemic encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0008151,Prolonged prothrombin time,Occasional (29-5%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0008180,Mildly elevated creatine kinase,Occasional (29-5%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0008283,Fasting hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0012071,Abnormal circulating acetylcarnitine concentration,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0030781,Increased circulating free fatty acid level,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0030796,Increased C-peptide level,Very frequent (99-80%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009870,Orphanet,71212,ORPHA:71212,36,HP:0100950,Decreased 3-hydroxyacyl-CoA dehydrogenase level,Obligate (100%),TAS,,,,"[PMID:10347277, PMID:10931422, PMID:11489939, PMID:12400064, PMID:14693719, PMID:16176262, PMID:1835339, PMID:21967988, PMID:23430856, PMID:25141826, PMID:8736409, PMID:904979]",y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0002435,Meningocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0002645,Wormian bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0004452,Abnormality of the middle ear ossicles,Frequent (79-30%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0004493,Craniofacial hyperostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0005487,Prominent metopic ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0009873,Orphanet,2789,ORPHA:2789,41,HP:0100775,Dural ectasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0000446,Narrow nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0001172,Abnormal thumb morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0002818,Abnormality of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0002992,Abnormality of tibia morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0002997,Abnormality of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0006492,Aplasia/Hypoplasia of the fibula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009879,Orphanet,2639,ORPHA:2639,15,HP:0008368,Tarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009886,Orphanet,88621,ORPHA:88621,5,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,[PMID:19631310],y,y +GARD:0009886,Orphanet,88621,ORPHA:88621,5,HP:0001880,Eosinophilia,Very frequent (99-80%),TAS,,,,[PMID:19631310],y,y +GARD:0009886,Orphanet,88621,ORPHA:88621,5,HP:0002643,Neonatal respiratory distress,Very frequent (99-80%),TAS,,,,[PMID:19631310],y,y +GARD:0009886,Orphanet,88621,ORPHA:88621,5,HP:0007549,Desquamation of skin soon after birth,Very frequent (99-80%),TAS,,,,[PMID:19631310],y,y +GARD:0009886,Orphanet,88621,ORPHA:88621,5,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,[PMID:19631310],y,y +GARD:0009888,Orphanet,79246,ORPHA:79246,11,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:15855260, PMID:19184109]",y,y +GARD:0009888,Orphanet,79246,ORPHA:79246,11,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:15855260, PMID:19184109]",y,y +GARD:0009888,Orphanet,79246,ORPHA:79246,11,HP:0002928,Decreased activity of the pyruvate dehydrogenase complex,Very frequent (99-80%),TAS,,,,"[PMID:15855260, PMID:19184109]",y,y +GARD:0009888,Orphanet,79246,ORPHA:79246,11,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:15855260, PMID:19184109]",y,y +GARD:0009888,Orphanet,79246,ORPHA:79246,11,HP:0003348,Hyperalaninemia,Frequent (79-30%),TAS,,,,"[PMID:15855260, PMID:19184109]",y,y +GARD:0009888,Orphanet,79246,ORPHA:79246,11,HP:0003648,Lacticaciduria,Frequent (79-30%),TAS,,,,"[PMID:15855260, PMID:19184109]",y,y +GARD:0009888,Orphanet,79246,ORPHA:79246,11,HP:0008358,Hyperprolinemia,Frequent (79-30%),TAS,,,,"[PMID:15855260, PMID:19184109]",y,y +GARD:0009888,Orphanet,79246,ORPHA:79246,11,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:15855260, PMID:19184109]",y,y +GARD:0009888,Orphanet,79246,ORPHA:79246,11,HP:0011342,Mild global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:15855260, PMID:19184109]",y,y +GARD:0009888,Orphanet,79246,ORPHA:79246,11,HP:0040328,Focal hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:15855260, PMID:19184109]",y,y +GARD:0009888,Orphanet,79246,ORPHA:79246,11,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:15855260, PMID:19184109]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0000135,Hypogonadism,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0000551,Color vision defect,Frequent (79-30%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0000602,Ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0000603,Central scotoma,Occasional (29-5%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0000738,Hallucinations,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0000819,Diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0001257,Spasticity,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0001258,Spastic paraplegia,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0001263,Global developmental delay,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0001269,Hemiparesis,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0001272,Cerebellar atrophy,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0001284,Areflexia,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0001761,Pes cavus,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0001972,Macrocytic anemia,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0002076,Migraine,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0002135,Basal ganglia calcification,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0002518,Abnormal periventricular white matter morphology,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0003202,Skeletal muscle atrophy,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0003326,Myalgia,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0003691,Scapular winging,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0007366,Atrophy/Degeneration affecting the brainstem,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0007371,Corpus callosum atrophy,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0009921,Duane anomaly,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0011968,Feeding difficulties,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0012378,Fatigue,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0012511,Temporal optic disc pallor,Frequent (79-30%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0025514,Morning glory anomaly,Frequent (79-30%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0030319,Weakness of facial musculature,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0030515,Moderately reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009890,Orphanet,98673,ORPHA:98673,44,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:11535456, PMID:30165240]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0000510,Rod-cone dystrophy,Frequent (79-30%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0000580,Pigmentary retinopathy,Frequent (79-30%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0000662,Nyctalopia,Frequent (79-30%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0002143,Abnormality of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0002166,Impaired vibration sensation in the lower limbs,Very frequent (99-80%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0002403,Positive Romberg sign,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0002579,Gastrointestinal dysmotility,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0002607,Bowel incontinence,Very rare (<4-1%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0007737,Bone spicule pigmentation of the retina,Frequent (79-30%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0010831,Impaired proprioception,Very frequent (99-80%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0012532,Chronic pain,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0012785,Flexion contracture of finger,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0030147,Truncal titubation,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0040078,Axonal degeneration,Frequent (79-30%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0040132,Abnormal sensory nerve conduction velocity,Occasional (29-5%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009898,Orphanet,88628,ORPHA:88628,31,HP:0045010,Abnormality of peripheral nerves,Frequent (79-30%),TAS,,,,"[PMID:21070897, PMID:21267618, PMID:24628582]",y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0000961,Cyanosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0001789,Hydrops fetalis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0002202,Pleural effusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0006510,Chronic pulmonary obstruction,Frequent (79-30%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0011852,Chylopericardium,Frequent (79-30%),TAS,,,,,y,y +GARD:0009900,Orphanet,2414,ORPHA:2414,16,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0009904,Orphanet,75325,ORPHA:75325,4,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009904,Orphanet,75325,ORPHA:75325,4,HP:0008209,Premature ovarian insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009904,Orphanet,75325,ORPHA:75325,4,HP:0010741,Pedal edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009904,Orphanet,75325,ORPHA:75325,4,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0000716,Depression,Frequent (79-30%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0001402,Hepatocellular carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0002239,Gastrointestinal hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0002516,Increased intracranial pressure,Frequent (79-30%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0002671,Basal cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0002893,Pituitary adenoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0002894,Neoplasm of the pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0003003,Colon cancer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0003006,Neuroblastoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0006725,Pancreatic adenocarcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0010524,Agnosia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0010526,Dysgraphia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0010622,Neoplasm of the skeletal system,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0010786,Urinary tract neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0012174,Glioblastoma multiforme,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0100031,Neoplasm of the thyroid gland,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0100571,Cardiac diverticulum,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0100576,Amaurosis fugax,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0100613,Death in early adulthood,Frequent (79-30%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0100615,Ovarian neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0100743,Neoplasm of the rectum,Frequent (79-30%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0100835,Benign neoplasm of the central nervous system,Occasional (29-5%),TAS,,,,,y,y +GARD:0009905,Orphanet,144,ORPHA:144,51,HP:0200008,Intestinal polyposis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0000561,Absent eyelashes,Frequent (79-30%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0000695,Natal tooth,Frequent (79-30%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0001030,Fragile skin,Frequent (79-30%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0001233,2-3 finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0001802,Absent toenail,Frequent (79-30%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0001817,Absent fingernail,Frequent (79-30%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0001836,Camptodactyly of toe,Occasional (29-5%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0002223,Absent eyebrow,Frequent (79-30%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0002298,Absent hair,Frequent (79-30%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0005597,Congenital alopecia totalis,Frequent (79-30%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0006097,3-4 finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0006670,Impaired myocardial contractility,Occasional (29-5%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0010705,4-5 finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0011039,Abnormal helix morphology,Occasional (29-5%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0031274,Hypovolemic shock,Frequent (79-30%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0031538,Abnormal dermoepidermal junction morphology,Frequent (79-30%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0032449,Abnormal dermoepidermal hemidesmosome morphology,Frequent (79-30%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009910,Orphanet,158687,ORPHA:158687,27,HP:0100792,Acantholysis,Frequent (79-30%),TAS,,,,"[PMID:19945626, PMID:20302578, PMID:24738885, PMID:28442525]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0001298,Encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0002363,Abnormal brainstem morphology,Frequent (79-30%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0002527,Falls,Frequent (79-30%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0007270,Atypical absence seizure,Frequent (79-30%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0010818,Generalized tonic seizure,Frequent (79-30%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0010819,Atonic seizure,Frequent (79-30%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0011195,EEG with focal sharp slow waves,Very frequent (99-80%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009912,Orphanet,2382,ORPHA:2382,19,HP:0012075,Personality disorder,Frequent (79-30%),TAS,,,,"[PMID:25284032, PMID:26093133, PMID:26166587, PMID:26513494]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0000044,Hypogonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0000544,External ophthalmoplegia,Very frequent (99-80%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0000597,Ophthalmoparesis,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0000815,Hypergonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0001403,Macrovesicular hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0002018,Nausea,Very frequent (99-80%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0002352,Leukoencephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0002579,Gastrointestinal dysmotility,Very frequent (99-80%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0003199,Decreased muscle mass,Occasional (29-5%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0003200,Ragged-red muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0003348,Hyperalaninemia,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0003387,Decreased number of large peripheral myelinated nerve fibers,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0003431,Decreased motor nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0003448,Decreased sensory nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0004396,Poor appetite,Very frequent (99-80%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0007108,Demyelinating peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0007141,Sensorimotor neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0008049,Abnormality of the extraocular muscles,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0011024,Abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0012103,Abnormality of the mitochondrion,Frequent (79-30%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0012850,Small intestinal dysmotility,Very frequent (99-80%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0025149,Atrophic muscularis propria,Very frequent (99-80%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009920,Orphanet,298,ORPHA:298,48,HP:0025461,Abnormal cell morphology,Occasional (29-5%),TAS,,,,"[PMID:17437622, PMID:20301358, PMID:22908072]",y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0000727,Frontal lobe dementia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0000734,Disinhibition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0000737,Irritability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0000751,Personality changes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0002488,Acute leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0009124,Abnormal adipose tissue morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0010524,Agnosia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0012062,Bone cyst,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0012719,Functional abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0009921,Orphanet,2770,ORPHA:2770,28,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0009931,Orphanet,35878,ORPHA:35878,12,HP:0000825,Hyperinsulinemic hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:11241047, PMID:11518822, PMID:14967154, PMID:20936362, PMID:21130127]",y,y +GARD:0009931,Orphanet,35878,ORPHA:35878,12,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:11241047, PMID:11518822, PMID:14967154, PMID:20936362, PMID:21130127]",y,y +GARD:0009931,Orphanet,35878,ORPHA:35878,12,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:11241047, PMID:11518822, PMID:14967154, PMID:20936362, PMID:21130127]",y,y +GARD:0009931,Orphanet,35878,ORPHA:35878,12,HP:0002121,Generalized non-motor (absence) seizure,Frequent (79-30%),TAS,,,,"[PMID:11241047, PMID:11518822, PMID:14967154, PMID:20936362, PMID:21130127]",y,y +GARD:0009931,Orphanet,35878,ORPHA:35878,12,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:11241047, PMID:11518822, PMID:14967154, PMID:20936362, PMID:21130127]",y,y +GARD:0009931,Orphanet,35878,ORPHA:35878,12,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:11241047, PMID:11518822, PMID:14967154, PMID:20936362, PMID:21130127]",y,y +GARD:0009931,Orphanet,35878,ORPHA:35878,12,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:11241047, PMID:11518822, PMID:14967154, PMID:20936362, PMID:21130127]",y,y +GARD:0009931,Orphanet,35878,ORPHA:35878,12,HP:0008162,Asymptomatic hyperammonemia,Very frequent (99-80%),TAS,,,,"[PMID:11241047, PMID:11518822, PMID:14967154, PMID:20936362, PMID:21130127]",y,y +GARD:0009931,Orphanet,35878,ORPHA:35878,12,HP:0008283,Fasting hyperinsulinemia,Frequent (79-30%),TAS,,,,"[PMID:11241047, PMID:11518822, PMID:14967154, PMID:20936362, PMID:21130127]",y,y +GARD:0009931,Orphanet,35878,ORPHA:35878,12,HP:0011198,EEG with generalized epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:11241047, PMID:11518822, PMID:14967154, PMID:20936362, PMID:21130127]",y,y +GARD:0009931,Orphanet,35878,ORPHA:35878,12,HP:0012051,Reactive hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:11241047, PMID:11518822, PMID:14967154, PMID:20936362, PMID:21130127]",y,y +GARD:0009931,Orphanet,35878,ORPHA:35878,12,HP:0012402,Increased urine alpha-ketoglutarate concentration,Frequent (79-30%),TAS,,,,"[PMID:11241047, PMID:11518822, PMID:14967154, PMID:20936362, PMID:21130127]",y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000457,Depressed nasal ridge,Occasional (29-5%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0001302,Pachygyria,Frequent (79-30%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0002126,Polymicrogyria,Frequent (79-30%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0002421,Poor head control,Very frequent (99-80%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0003134,Abnormality of peripheral nerve conduction,Frequent (79-30%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0007447,Diffuse palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,[PMID:15968592],y,y +GARD:0009940,Orphanet,66631,ORPHA:66631,33,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,[PMID:15968592],y,y +GARD:0009941,Orphanet,269,ORPHA:269,10,HP:0000298,Mask-like facies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009941,Orphanet,269,ORPHA:269,10,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0009941,Orphanet,269,ORPHA:269,10,HP:0000499,Abnormal eyelash morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0009941,Orphanet,269,ORPHA:269,10,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009941,Orphanet,269,ORPHA:269,10,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009941,Orphanet,269,ORPHA:269,10,HP:0003307,Hyperlordosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009941,Orphanet,269,ORPHA:269,10,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009941,Orphanet,269,ORPHA:269,10,HP:0008046,Abnormal retinal vascular morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0009941,Orphanet,269,ORPHA:269,10,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009941,Orphanet,269,ORPHA:269,10,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0000735,Impaired social interactions,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0000817,Poor eye contact,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0002280,Enlarged cisterna magna,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0002340,Caudate atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0002384,Focal impaired awareness seizure,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0002951,Partial absence of cerebellar vermis,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0006817,Aplasia/Hypoplasia of the cerebellar vermis,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0006913,Frontal cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0006951,Retrocerebellar cyst,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0007112,Temporal cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009947,Orphanet,137831,ORPHA:137831,33,HP:0400000,Tall chin,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:20528889, PMID:23622180]",y,y +GARD:0009950,Orphanet,101108,ORPHA:101108,10,HP:0000514,Slow saccadic eye movements,Frequent (79-30%),TAS,,,,[PMID:15306549],y,y +GARD:0009950,Orphanet,101108,ORPHA:101108,10,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:15306549],y,y +GARD:0009950,Orphanet,101108,ORPHA:101108,10,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,[PMID:15306549],y,y +GARD:0009950,Orphanet,101108,ORPHA:101108,10,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:15306549],y,y +GARD:0009950,Orphanet,101108,ORPHA:101108,10,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,[PMID:15306549],y,y +GARD:0009950,Orphanet,101108,ORPHA:101108,10,HP:0002070,Limb ataxia,Very frequent (99-80%),TAS,,,,[PMID:15306549],y,y +GARD:0009950,Orphanet,101108,ORPHA:101108,10,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,[PMID:15306549],y,y +GARD:0009950,Orphanet,101108,ORPHA:101108,10,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:15306549],y,y +GARD:0009950,Orphanet,101108,ORPHA:101108,10,HP:0006886,Impaired distal vibration sensation,Frequent (79-30%),TAS,,,,[PMID:15306549],y,y +GARD:0009950,Orphanet,101108,ORPHA:101108,10,HP:0010831,Impaired proprioception,Frequent (79-30%),TAS,,,,[PMID:15306549],y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0000514,Slow saccadic eye movements,Frequent (79-30%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0000597,Ophthalmoparesis,Frequent (79-30%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0000708,Behavioral abnormality,Very rare (<4-1%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0000716,Depression,Very rare (<4-1%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0001257,Spasticity,Very rare (<4-1%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0001332,Dystonia,Very rare (<4-1%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0002063,Rigidity,Very rare (<4-1%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0002070,Limb ataxia,Very frequent (99-80%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0002346,Head tremor,Very rare (<4-1%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0002354,Memory impairment,Very rare (<4-1%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0002395,Lower limb hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0002451,Limb dystonia,Very rare (<4-1%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0030186,Kinetic tremor,Occasional (29-5%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009951,Orphanet,101109,ORPHA:101109,20,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:16251216, PMID:20725928]",y,y +GARD:0009952,Orphanet,83461,ORPHA:83461,6,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0009952,Orphanet,83461,ORPHA:83461,6,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009952,Orphanet,83461,ORPHA:83461,6,HP:0000647,Sclerocornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0009952,Orphanet,83461,ORPHA:83461,6,HP:0007707,Congenital aphakia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009952,Orphanet,83461,ORPHA:83461,6,HP:0007973,Retinal dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009952,Orphanet,83461,ORPHA:83461,6,HP:0008062,Aplasia/Hypoplasia affecting the anterior segment of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0000640,Gaze-evoked nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0000642,Red-green dyschromatopsia,Occasional (29-5%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0001337,Tremor,Very frequent (99-80%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0002304,Akinesia,Very rare (<4-1%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0002378,Hand tremor,Occasional (29-5%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0003390,Sensory axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009963,Orphanet,98764,ORPHA:98764,20,HP:0010526,Dysgraphia,Very rare (<4-1%),TAS,,,,"[PMID:12489043, PMID:15470364, PMID:22579694]",y,y +GARD:0009970,Orphanet,98765,ORPHA:98765,12,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:8755926],y,y +GARD:0009970,Orphanet,98765,ORPHA:98765,12,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:8755926],y,y +GARD:0009970,Orphanet,98765,ORPHA:98765,12,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,[PMID:8755926],y,y +GARD:0009970,Orphanet,98765,ORPHA:98765,12,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:8755926],y,y +GARD:0009970,Orphanet,98765,ORPHA:98765,12,HP:0002333,Motor deterioration,Frequent (79-30%),TAS,,,,[PMID:8755926],y,y +GARD:0009970,Orphanet,98765,ORPHA:98765,12,HP:0002495,Impaired vibratory sensation,Very frequent (99-80%),TAS,,,,[PMID:8755926],y,y +GARD:0009970,Orphanet,98765,ORPHA:98765,12,HP:0003390,Sensory axonal neuropathy,Occasional (29-5%),TAS,,,,[PMID:8755926],y,y +GARD:0009970,Orphanet,98765,ORPHA:98765,12,HP:0003438,Absent Achilles reflex,Very frequent (99-80%),TAS,,,,[PMID:8755926],y,y +GARD:0009970,Orphanet,98765,ORPHA:98765,12,HP:0007002,Motor axonal neuropathy,Occasional (29-5%),TAS,,,,[PMID:8755926],y,y +GARD:0009970,Orphanet,98765,ORPHA:98765,12,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,[PMID:8755926],y,y +GARD:0009970,Orphanet,98765,ORPHA:98765,12,HP:0010830,Impaired tactile sensation,Very frequent (99-80%),TAS,,,,[PMID:8755926],y,y +GARD:0009970,Orphanet,98765,ORPHA:98765,12,HP:0010831,Impaired proprioception,Very frequent (99-80%),TAS,,,,[PMID:8755926],y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0000524,Conjunctival telangiectasia,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0000618,Blindness,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0000657,Oculomotor apraxia,Excluded (0%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0000763,Sensory neuropathy,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0002346,Head tremor,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0005102,Cochlear degeneration,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0006254,Elevated alpha-fetoprotein,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0007126,Proximal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0007263,Spinocerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009971,Orphanet,95433,ORPHA:95433,19,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:11175288, PMID:4154794]",y,y +GARD:0009975,Orphanet,217012,ORPHA:217012,11,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:16780885],y,y +GARD:0009975,Orphanet,217012,ORPHA:217012,11,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:16780885],y,y +GARD:0009975,Orphanet,217012,ORPHA:217012,11,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,[PMID:16780885],y,y +GARD:0009975,Orphanet,217012,ORPHA:217012,11,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:16780885],y,y +GARD:0009975,Orphanet,217012,ORPHA:217012,11,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,[PMID:16780885],y,y +GARD:0009975,Orphanet,217012,ORPHA:217012,11,HP:0001272,Cerebellar atrophy,Very frequent (99-80%),TAS,,,,[PMID:16780885],y,y +GARD:0009975,Orphanet,217012,ORPHA:217012,11,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,[PMID:16780885],y,y +GARD:0009975,Orphanet,217012,ORPHA:217012,11,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,[PMID:16780885],y,y +GARD:0009975,Orphanet,217012,ORPHA:217012,11,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,[PMID:16780885],y,y +GARD:0009975,Orphanet,217012,ORPHA:217012,11,HP:0002495,Impaired vibratory sensation,Occasional (29-5%),TAS,,,,[PMID:16780885],y,y +GARD:0009975,Orphanet,217012,ORPHA:217012,11,HP:0006801,Hyperactive deep tendon reflexes,Occasional (29-5%),TAS,,,,[PMID:16780885],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0002346,Head tremor,Occasional (29-5%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0002600,Hyporeflexia of lower limbs,Frequent (79-30%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0003474,Somatic sensory dysfunction,Very frequent (99-80%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0010546,Muscle fibrillation,Frequent (79-30%),TAS,,,,[PMID:11992570],y,y +GARD:0009976,Orphanet,98771,ORPHA:98771,18,HP:0030187,Titubation,Occasional (29-5%),TAS,,,,[PMID:11992570],y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0000100,Nephrotic syndrome,Frequent (79-30%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0000951,Abnormality of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0007153,Progressive extrapyramidal movement disorder,Very frequent (99-80%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Very frequent (99-80%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009977,Orphanet,83472,ORPHA:83472,15,HP:0012444,Brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:20531441, PMID:26070982]",y,y +GARD:0009980,Orphanet,85292,ORPHA:85292,7,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,[PMID:3470628],y,y +GARD:0009980,Orphanet,85292,ORPHA:85292,7,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:3470628],y,y +GARD:0009980,Orphanet,85292,ORPHA:85292,7,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,[PMID:3470628],y,y +GARD:0009980,Orphanet,85292,ORPHA:85292,7,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,[PMID:3470628],y,y +GARD:0009980,Orphanet,85292,ORPHA:85292,7,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,[PMID:3470628],y,y +GARD:0009980,Orphanet,85292,ORPHA:85292,7,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:3470628],y,y +GARD:0009980,Orphanet,85292,ORPHA:85292,7,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,[PMID:3470628],y,y +GARD:0009981,Orphanet,85297,ORPHA:85297,6,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009981,Orphanet,85297,ORPHA:85297,6,HP:0000565,Esotropia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009981,Orphanet,85297,ORPHA:85297,6,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009981,Orphanet,85297,ORPHA:85297,6,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009981,Orphanet,85297,ORPHA:85297,6,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009981,Orphanet,85297,ORPHA:85297,6,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009984,Orphanet,85283,ORPHA:85283,9,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,[PMID:2018061],y,y +GARD:0009984,Orphanet,85283,ORPHA:85283,9,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,[PMID:2018061],y,y +GARD:0009984,Orphanet,85283,ORPHA:85283,9,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,[PMID:2018061],y,y +GARD:0009984,Orphanet,85283,ORPHA:85283,9,HP:0000577,Exotropia,Very frequent (99-80%),TAS,,,,[PMID:2018061],y,y +GARD:0009984,Orphanet,85283,ORPHA:85283,9,HP:0001838,Rocker bottom foot,Frequent (79-30%),TAS,,,,[PMID:2018061],y,y +GARD:0009984,Orphanet,85283,ORPHA:85283,9,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:2018061],y,y +GARD:0009984,Orphanet,85283,ORPHA:85283,9,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,[PMID:2018061],y,y +GARD:0009984,Orphanet,85283,ORPHA:85283,9,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,[PMID:2018061],y,y +GARD:0009984,Orphanet,85283,ORPHA:85283,9,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:2018061],y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0000388,Otitis media,Occasional (29-5%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0000872,Hashimoto thyroiditis,Very rare (<4-1%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0002718,Recurrent bacterial infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0002720,Decreased circulating IgA level,Frequent (79-30%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0004315,Decreased circulating IgG level,Frequent (79-30%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0004429,Recurrent viral infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0005390,Recurrent opportunistic infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0005681,Juvenile rheumatoid arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0009098,Chronic oral candidiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0011107,Recurrent aphthous stomatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0011274,Recurrent mycobacterial infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0031123,Recurrent gastroenteritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0045080,Decreased proportion of CD3-positive T cells,Occasional (29-5%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0200043,Verrucae,Frequent (79-30%),TAS,,,,,y,y +GARD:0009987,Orphanet,275,ORPHA:275,19,HP:0200117,Recurrent upper and lower respiratory tract infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0000855,Insulin resistance,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0001211,Abnormal fingertip morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0001595,Abnormal hair morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0001870,Acroosteolysis of distal phalanges (feet),Very frequent (99-80%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0003761,Calcinosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0004334,Dermal atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0005328,Progeroid facial appearance,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0006710,Aplasia/Hypoplasia of the clavicles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0007495,Prematurely aged appearance,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0009064,Generalized lipodystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0009839,Osteolytic defects of the distal phalanges of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009989,Orphanet,90154,ORPHA:90154,28,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0000230,Gingivitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0000653,Sparse eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0000973,Cutis laxa,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0000987,Atypical scarring of skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0001075,Atrophic scars,Frequent (79-30%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0001642,Pulmonic stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0001650,Aortic valve stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0005328,Progeroid facial appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0006481,Abnormality of primary teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0007469,Palmoplantar cutis gyrata,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0009125,Lipodystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0010511,Long toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0009991,Orphanet,75496,ORPHA:75496,37,HP:0100813,Testicular torsion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0000551,Color vision defect,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0001283,Bulbar palsy,Very frequent (99-80%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0001291,Abnormal cranial nerve morphology,Very frequent (99-80%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0001730,Progressive hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0003690,Limb muscle weakness,Frequent (79-30%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0007730,Iris hypopigmentation,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0008002,Abnormality of macular pigmentation,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,[PMID:26072523],y,y +GARD:0009993,Orphanet,97229,ORPHA:97229,35,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,[PMID:26072523],y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0000641,Dysmetric saccades,Frequent (79-30%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0001151,Impaired horizontal smooth pursuit,Very frequent (99-80%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0001250,Seizure,Excluded (0%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0002070,Limb ataxia,Very frequent (99-80%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0002380,Fasciculations,Excluded (0%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0003470,Paralysis,Excluded (0%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0003474,Somatic sensory dysfunction,Excluded (0%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0007034,Generalized hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009995,Orphanet,101112,ORPHA:101112,15,HP:0007240,Progressive gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:15732118, PMID:23001565, PMID:23331413, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0000012,Urinary urgency,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0000317,Facial myokymia,Occasional (29-5%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0000763,Sensory neuropathy,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0002522,Areflexia of lower limbs,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0002574,Episodic abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0003387,Decreased number of large peripheral myelinated nerve fibers,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0003445,EMG: neuropathic changes,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0006937,Impaired distal tactile sensation,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0011468,Facial tics,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0031422,Abnormal cerebellar cortex morphology,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009996,Orphanet,101111,ORPHA:101111,23,HP:0100275,Diffuse cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:14705117, PMID:21619691]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0000640,Gaze-evoked nystagmus,Occasional (29-5%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0002080,Intention tremor,Very rare (<4-1%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0007338,Hypermetric saccades,Frequent (79-30%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0007351,Upper limb postural tremor,Occasional (29-5%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0010545,Downbeat nystagmus,Occasional (29-5%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0012049,Laryngeal dystonia,Frequent (79-30%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0030185,Isometric tremor,Occasional (29-5%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0030186,Kinetic tremor,Occasional (29-5%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009997,Orphanet,101110,ORPHA:101110,19,HP:0030188,Tremor by anatomical site,Frequent (79-30%),TAS,,,,"[PMID:14998916, PMID:20301644]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0000597,Ophthalmoparesis,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0001751,Vestibular dysfunction,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0002403,Positive Romberg sign,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0002495,Impaired vibratory sensation,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0003200,Ragged-red muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0003434,Sensory ataxic neuropathy,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0004389,Intestinal pseudo-obstruction,Occasional (29-5%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0006858,Impaired distal proprioception,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0007344,Atrophy/Degeneration involving the spinal cord,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0008619,Bilateral sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0012696,Abnormal thalamic MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0025331,Upgaze palsy,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0031422,Abnormal cerebellar cortex morphology,Frequent (79-30%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009998,Orphanet,70595,ORPHA:70595,31,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:11571332, PMID:15477547, PMID:9222196]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0002071,Abnormality of extrapyramidal motor function,Very frequent (99-80%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0002304,Akinesia,Frequent (79-30%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0007944,Intermittent microsaccadic pursuits,Very frequent (99-80%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0010526,Dysgraphia,Frequent (79-30%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0009999,Orphanet,98773,ORPHA:98773,15,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:18418688, PMID:25070513]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0000640,Gaze-evoked nystagmus,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0002283,Global brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0002503,Spinocerebellar tract degeneration,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0003124,Hypercholesterolemia,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0003376,Steppage gait,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0006858,Impaired distal proprioception,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0007021,Pain insensitivity,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010000,Orphanet,94124,ORPHA:94124,20,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:12244316, PMID:15744309]",y,y +GARD:0010005,Orphanet,871,ORPHA:871,8,HP:0001279,Syncope,Frequent (79-30%),TAS,,,,"[PMID:23851511, PMID:5806048]",y,y +GARD:0010005,Orphanet,871,ORPHA:871,8,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:23851511, PMID:5806048]",y,y +GARD:0010005,Orphanet,871,ORPHA:871,8,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:23851511, PMID:5806048]",y,y +GARD:0010005,Orphanet,871,ORPHA:871,8,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:23851511, PMID:5806048]",y,y +GARD:0010005,Orphanet,871,ORPHA:871,8,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,"[PMID:23851511, PMID:5806048]",y,y +GARD:0010005,Orphanet,871,ORPHA:871,8,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:23851511, PMID:5806048]",y,y +GARD:0010005,Orphanet,871,ORPHA:871,8,HP:0011710,Bundle branch block,Frequent (79-30%),TAS,,,,"[PMID:23851511, PMID:5806048]",y,y +GARD:0010005,Orphanet,871,ORPHA:871,8,HP:0012722,Heart block,Frequent (79-30%),TAS,,,,"[PMID:23851511, PMID:5806048]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0000570,Abnormal saccadic eye movements,Very frequent (99-80%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0002664,Neoplasm,Frequent (79-30%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0003002,Breast carcinoma,Occasional (29-5%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0003006,Neuroblastoma,Frequent (79-30%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0010543,Opsoclonus,Very frequent (99-80%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0012226,Ovarian teratoma,Occasional (29-5%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0030057,Autoimmune antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0030357,Small cell lung carcinoma,Occasional (29-5%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0031035,Chronic infection,Occasional (29-5%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0045084,Limb myoclonus,Frequent (79-30%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0100526,Neoplasm of the lung,Occasional (29-5%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010009,Orphanet,1183,ORPHA:1183,21,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:23622330, PMID:30232989, PMID:30483882]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0000079,Abnormality of the urinary system,Excluded (0%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0000478,Abnormality of the eye,Excluded (0%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0000982,Palmoplantar keratoderma,Excluded (0%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0001000,Abnormality of skin pigmentation,Very rare (<4-1%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0001030,Fragile skin,Frequent (79-30%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0001056,Milia,Frequent (79-30%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0001057,Aplasia cutis congenita,Occasional (29-5%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0001075,Atrophic scars,Frequent (79-30%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0001510,Growth delay,Excluded (0%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0001798,Anonychia,Frequent (79-30%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0001903,Anemia,Excluded (0%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0001965,Abnormal scalp morphology,Excluded (0%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0002671,Basal cell carcinoma,Excluded (0%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0002860,Squamous cell carcinoma,Excluded (0%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0004057,Mitten deformity,Excluded (0%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0004386,Gastrointestinal inflammation,Excluded (0%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0006297,Enamel hypoplasia,Excluded (0%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0009723,Abnormality of the subungual region,Frequent (79-30%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0011354,Generalized abnormality of skin,Very frequent (99-80%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0012056,Cutaneous melanoma,Excluded (0%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0012252,Abnormal respiratory system morphology,Excluded (0%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0031464,Genital blistering,Excluded (0%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0200041,Skin erosion,Occasional (29-5%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010010,Orphanet,79411,ORPHA:79411,27,HP:0200097,Oral mucosal blisters,Frequent (79-30%),TAS,,,,"[PMID:17501948, PMID:20301481, PMID:24690439, PMID:25639640, PMID:26864810]",y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000244,Brachyturricephaly,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000452,Choanal stenosis,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000883,Thin ribs,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000890,Long clavicles,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0001036,Parakeratosis,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0001051,Seborrheic dermatitis,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0002208,Coarse hair,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0002506,Diffuse cerebral atrophy,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0002594,Pancreatic hypoplasia,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0002850,Decreased circulating total IgM,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0002949,Fused cervical vertebrae,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0004425,Flat forehead,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0004440,Coronal craniosynostosis,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0004616,Cleft vertebral arch,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0005365,Severe B lymphocytopenia,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0006560,Biliary hyperplasia,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0009697,Contracture of the distal interphalangeal joint of the fingers,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0010976,B lymphocytopenia,Very frequent (99-80%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0011471,Gastrostomy tube feeding in infancy,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0011682,Perimembranous ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0025092,Epidermal acanthosis,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010011,Orphanet,83617,ORPHA:83617,54,HP:0031190,Superficial dermal perivascular inflammatory infiltrate,Frequent (79-30%),TAS,,,,[PMID:16691627],y,y +GARD:0010012,Orphanet,85164,ORPHA:85164,4,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010012,Orphanet,85164,ORPHA:85164,4,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010012,Orphanet,85164,ORPHA:85164,4,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010012,Orphanet,85164,ORPHA:85164,4,HP:0100491,Abnormality of lower limb joint,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010018,Orphanet,98974,ORPHA:98974,9,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:31215821, PMID:31263352, PMID:31267087]",y,y +GARD:0010018,Orphanet,98974,ORPHA:98974,9,HP:0000662,Nyctalopia,Frequent (79-30%),TAS,,,,"[PMID:31215821, PMID:31263352, PMID:31267087]",y,y +GARD:0010018,Orphanet,98974,ORPHA:98974,9,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,"[PMID:31215821, PMID:31263352, PMID:31267087]",y,y +GARD:0010018,Orphanet,98974,ORPHA:98974,9,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,"[PMID:31215821, PMID:31263352, PMID:31267087]",y,y +GARD:0010018,Orphanet,98974,ORPHA:98974,9,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,"[PMID:31215821, PMID:31263352, PMID:31267087]",y,y +GARD:0010018,Orphanet,98974,ORPHA:98974,9,HP:0011488,Abnormal corneal endothelium morphology,Very frequent (99-80%),TAS,,,,"[PMID:31215821, PMID:31263352, PMID:31267087]",y,y +GARD:0010018,Orphanet,98974,ORPHA:98974,9,HP:0011490,Abnormal Descemet membrane morphology,Very frequent (99-80%),TAS,,,,"[PMID:31215821, PMID:31263352, PMID:31267087]",y,y +GARD:0010018,Orphanet,98974,ORPHA:98974,9,HP:0011491,Reduced number of corneal endothelial cells,Very frequent (99-80%),TAS,,,,"[PMID:31215821, PMID:31263352, PMID:31267087]",y,y +GARD:0010018,Orphanet,98974,ORPHA:98974,9,HP:0030857,Eye movement-induced pain,Frequent (79-30%),TAS,,,,"[PMID:31215821, PMID:31263352, PMID:31267087]",y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0000037,Male pseudohermaphroditism,Frequent (79-30%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0000878,11 pairs of ribs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0001601,Laryngomalacia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0002779,Tracheomalacia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0002786,Tracheobronchomalacia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0002827,Hip dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0002980,Femoral bowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0002982,Tibial bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0003026,Short long bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0003038,Fibular hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0004408,Abnormality of the sense of smell,Occasional (29-5%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0006584,Small abnormally formed scapulae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0007036,Hypoplasia of olfactory tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0008477,Poorly ossified cervical vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0008821,Hypoplastic inferior ilia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0010781,Skin dimple,Frequent (79-30%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010027,Orphanet,140,ORPHA:140,38,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0001298,Encephalopathy,Obligate (100%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0001947,Renal tubular acidosis,Frequent (79-30%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0002448,Progressive encephalopathy,Excluded (0%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0004365,Abnormal circulating tryptophan concentration,Obligate (100%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0005957,Breathing dysregulation,Frequent (79-30%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0008527,Congenital sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010039,Orphanet,79155,ORPHA:79155,17,HP:0010280,Stomatitis,Frequent (79-30%),TAS,,,,"[PMID:14169454, PMID:17334708, PMID:5586569]",y,y +GARD:0010041,Orphanet,1200,ORPHA:1200,11,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010041,Orphanet,1200,ORPHA:1200,11,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010041,Orphanet,1200,ORPHA:1200,11,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0010041,Orphanet,1200,ORPHA:1200,11,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0010041,Orphanet,1200,ORPHA:1200,11,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0010041,Orphanet,1200,ORPHA:1200,11,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0010041,Orphanet,1200,ORPHA:1200,11,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010041,Orphanet,1200,ORPHA:1200,11,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0010041,Orphanet,1200,ORPHA:1200,11,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0010041,Orphanet,1200,ORPHA:1200,11,HP:0004502,Bilateral choanal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010041,Orphanet,1200,ORPHA:1200,11,HP:0012745,Short palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0001396,Cholestasis,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0001399,Hepatic failure,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0001978,Extramedullary hematopoiesis,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0002570,Steatorrhea,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0002630,Fat malabsorption,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0002748,Rickets,Occasional (29-5%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0002904,Hyperbilirubinemia,Very frequent (99-80%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0002908,Conjugated hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0003256,Abnormality of the coagulation cascade,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0003645,Prolonged partial thromboplastin time,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0006579,Prolonged neonatal jaundice,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0008151,Prolonged prothrombin time,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0011040,Abnormality of the intrahepatic bile duct,Occasional (29-5%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0030984,Abnormal serum bile acid concentration,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0040319,Dark urine,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0100513,Low levels of vitamin E,Frequent (79-30%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010045,Orphanet,79303,ORPHA:79303,27,HP:0200084,Giant cell hepatitis,Very frequent (99-80%),TAS,,,,"[PMID:12970144, PMID:3198770]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0000580,Pigmentary retinopathy,Frequent (79-30%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0001298,Encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0002401,Stroke-like episode,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0002573,Hematochezia,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0002611,Cholestatic liver disease,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0003201,Rhabdomyolysis,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0011892,Low levels of vitamin K,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0030516,Homonymous hemianopia,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010046,Orphanet,79095,ORPHA:79095,27,HP:0200084,Giant cell hepatitis,Occasional (29-5%),TAS,,,,"[PMID:31951345, PMID:33047465, PMID:34267495]",y,y +GARD:0010047,Orphanet,32,ORPHA:32,5,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010047,Orphanet,32,ORPHA:32,5,HP:0001878,Hemolytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010047,Orphanet,32,ORPHA:32,5,HP:0001996,Chronic metabolic acidosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010047,Orphanet,32,ORPHA:32,5,HP:0003343,Reduced glutathione synthetase level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010047,Orphanet,32,ORPHA:32,5,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0000533,Chorioretinal atrophy,Occasional (29-5%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0000662,Nyctalopia,Very rare (<4-1%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0007401,Macular atrophy,Frequent (79-30%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0007641,Dyschromatopsia,Very rare (<4-1%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0007814,Retinal pigment epithelial mottling,Occasional (29-5%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0007894,Hypopigmentation of the fundus,Frequent (79-30%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0007924,Slow decrease in visual acuity,Frequent (79-30%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0007980,Absent retinal pigment epithelium,Occasional (29-5%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0011510,Drusen,Occasional (29-5%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0030491,Choriocapillaris atrophy,Occasional (29-5%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0030615,Foveal photoreceptor outer segment loss on macular OCT,Frequent (79-30%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0030629,Perifoveal ring of hyperautofluorescence,Occasional (29-5%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0030631,Hyperautofluorescent macular lesion,Very frequent (99-80%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010049,Orphanet,75377,ORPHA:75377,17,HP:0031152,Full-thickness macular hole,Very frequent (99-80%),TAS,,,,"[PMID:19243827, PMID:22003107, PMID:28125083]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0000551,Color vision defect,Occasional (29-5%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0000603,Central scotoma,Occasional (29-5%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0000654,Decreased light- and dark-adapted electroretinogram amplitude,Frequent (79-30%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0000662,Nyctalopia,Frequent (79-30%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0001129,Large central visual field defect,Occasional (29-5%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0001133,Constriction of peripheral visual field,Frequent (79-30%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0001141,Severely reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0007722,Retinal pigment epithelial atrophy,Frequent (79-30%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0007760,Crystalline corneal dystrophy,Frequent (79-30%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0007814,Retinal pigment epithelial mottling,Occasional (29-5%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0011505,Cystoid macular edema,Occasional (29-5%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0030329,Retinal thinning,Occasional (29-5%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0030491,Choriocapillaris atrophy,Frequent (79-30%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0030528,Paracentral scotoma,Occasional (29-5%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0031528,Subretinal deposits,Frequent (79-30%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010050,Orphanet,41751,ORPHA:41751,19,HP:0200065,Chorioretinal degeneration,Frequent (79-30%),TAS,,,,"[PMID:22497028, PMID:31512983, PMID:34068831]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0000151,Aplasia of the uterus,Very rare (<4-1%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0000272,Malar flattening,Very rare (<4-1%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0000411,Protruding ear,Very rare (<4-1%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0000498,Blepharitis,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0000564,Lacrimal duct atresia,Frequent (79-30%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0000786,Primary amenorrhea,Very rare (<4-1%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0001092,Absent lacrimal punctum,Frequent (79-30%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0001159,Syndactyly,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0001480,Freckling,Very rare (<4-1%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0001596,Alopecia,Very rare (<4-1%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0002164,Nail dysplasia,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0002557,Hypoplastic nipples,Frequent (79-30%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0002561,Absent nipple,Frequent (79-30%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0003765,Psoriasiform dermatitis,Very rare (<4-1%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0007565,Multiple cafe-au-lait spots,Very rare (<4-1%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0007717,Chronic irritative conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0010463,Aplasia of the ovary,Very rare (<4-1%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0011819,Submucous cleft soft palate,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0011939,3-4 finger cutaneous syndactyly,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0012165,Oligodactyly,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0012814,Bilateral breast hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0045075,Sparse eyebrow,Very rare (<4-1%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0100783,Breast aplasia,Frequent (79-30%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0410005,Cleft hard palate,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010051,Orphanet,69085,ORPHA:69085,32,HP:0410030,Cleft lip,Occasional (29-5%),TAS,,,,"[PMID:18627043, PMID:20556892, PMID:2199012, PMID:26075610, PMID:9973291]",y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0000269,Prominent occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0001852,Sandal gap,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0002974,Radioulnar synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0004493,Craniofacial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0009832,Abnormal distal phalanx morphology of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010054,Orphanet,2725,ORPHA:2725,21,HP:0100335,Non-midline cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000191,Accessory oral frenulum,Frequent (79-30%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000243,Trigonocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000356,Abnormality of the outer ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000384,Preauricular skin tag,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000413,Atresia of the external auditory canal,Frequent (79-30%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0001177,Preaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0005484,Secondary microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0008609,Morphological abnormality of the middle ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0009748,Large earlobe,Frequent (79-30%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0011268,Absent tragus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0011272,Underdeveloped tragus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010056,Orphanet,79113,ORPHA:79113,30,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010061,Orphanet,50809,ORPHA:50809,6,HP:0003037,Enlarged joints,Very frequent (99-80%),TAS,,,,[PMID:12910489],y,y +GARD:0010061,Orphanet,50809,ORPHA:50809,6,HP:0006202,Osteolysis of scaphoids,Very frequent (99-80%),TAS,,,,[PMID:12910489],y,y +GARD:0010061,Orphanet,50809,ORPHA:50809,6,HP:0006378,Osteolysis of patellae,Very frequent (99-80%),TAS,,,,[PMID:12910489],y,y +GARD:0010061,Orphanet,50809,ORPHA:50809,6,HP:0008095,Osteolysis of talus,Very frequent (99-80%),TAS,,,,[PMID:12910489],y,y +GARD:0010061,Orphanet,50809,ORPHA:50809,6,HP:0010044,Short 4th metacarpal,Very frequent (99-80%),TAS,,,,[PMID:12910489],y,y +GARD:0010061,Orphanet,50809,ORPHA:50809,6,HP:0100769,Synovitis,Very frequent (99-80%),TAS,,,,[PMID:12910489],y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0002888,Ependymoma,Obligate (100%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0002896,Neoplasm of the liver,Very rare (<4-1%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0010302,Spinal cord tumor,Occasional (29-5%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0012534,Dysesthesia,Occasional (29-5%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0025461,Abnormal cell morphology,Frequent (79-30%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0030693,Supratentorial neoplasm,Occasional (29-5%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0100013,Neoplasm of the breast,Very rare (<4-1%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0100526,Neoplasm of the lung,Very rare (<4-1%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010070,Orphanet,251639,ORPHA:251639,15,HP:0100615,Ovarian neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0000592,Blue sclerae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0000912,Sprengel anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0001631,Atrial septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0002002,Deep philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0002086,Abnormality of the respiratory system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0002211,White forelock,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0003298,Spina bifida occulta,Frequent (79-30%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010081,Orphanet,2475,ORPHA:2475,19,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0001338,Partial agenesis of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0004330,Increased skull ossification,Frequent (79-30%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0006824,Cranial nerve paralysis,Frequent (79-30%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0012444,Brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0012447,Abnormal myelination,Frequent (79-30%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0025116,Fetal distress,Occasional (29-5%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010082,Orphanet,85179,ORPHA:85179,15,HP:0025517,Hypoplastic hippocampus,Frequent (79-30%),TAS,,,,"[PMID:28655174, PMID:7577667]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0000016,Urinary retention,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0002100,Recurrent aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0002385,Paraparesis,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0002415,Leukodystrophy,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0002722,Recurrent abscess formation,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0002728,Chronic mucocutaneous candidiasis,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0002743,Recurrent enteroviral infections,Frequent (79-30%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0002849,Absence of lymph node germinal center,Frequent (79-30%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0003139,Panhypogammaglobulinemia,Very frequent (99-80%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0004429,Recurrent viral infections,Frequent (79-30%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0005403,T lymphocytopenia,Frequent (79-30%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0010550,Paraplegia,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0030355,Abnormal serum interferon-gamma level,Very frequent (99-80%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0030374,Decreased proportion of memory B cells,Frequent (79-30%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0030782,Abnormal circulating interleukin concentration,Very frequent (99-80%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0031123,Recurrent gastroenteritis,Frequent (79-30%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0031218,Inappropriate antidiuretic hormone secretion,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0040088,Abnormal lymphocyte count,Very frequent (99-80%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0040089,Abnormal natural killer cell count,Very rare (<4-1%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0040223,Pulmonary hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0100626,Chronic hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010083,Orphanet,79124,ORPHA:79124,39,HP:0410018,Recurrent ear infections,Occasional (29-5%),TAS,,,,"[PMID:17510920, PMID:20301448, PMID:22621957]",y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0000969,Edema,Frequent (79-30%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0001061,Acne,Frequent (79-30%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0002113,Pulmonary infiltrates,Occasional (29-5%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0002315,Headache,Frequent (79-30%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0002754,Osteomyelitis,Very frequent (99-80%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0002907,Microscopic hematuria,Occasional (29-5%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0003025,Metaphyseal irregularity,Very frequent (99-80%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0004810,Congenital hypoplastic anemia,Very frequent (99-80%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0004840,Hypochromic microcytic anemia,Very frequent (99-80%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0005561,Abnormality of bone marrow cell morphology,Very frequent (99-80%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0011001,Increased bone mineral density,Frequent (79-30%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0011123,Inflammatory abnormality of the skin,Occasional (29-5%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0012647,Abnormal inflammatory response,Very frequent (99-80%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0012735,Cough,Occasional (29-5%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0100769,Synovitis,Frequent (79-30%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0100820,Glomerulopathy,Occasional (29-5%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,[PMID:20301735],y,y +GARD:0010088,Orphanet,77297,ORPHA:77297,32,HP:0200039,Pustule,Very frequent (99-80%),TAS,,,,[PMID:20301735],y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000162,Glossoptosis,Frequent (79-30%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000199,Tongue nodules,Very rare (<4-1%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000201,Pierre-Robin sequence,Very frequent (99-80%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000239,Large fontanelles,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000385,Small earlobe,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000395,Prominent antihelix,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000767,Pectus excavatum,Very rare (<4-1%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000879,Short sternum,Very rare (<4-1%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0001631,Atrial septal defect,Very frequent (99-80%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0001636,Tetralogy of Fallot,Very rare (<4-1%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0001762,Talipes equinovarus,Very frequent (99-80%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0001838,Rocker bottom foot,Frequent (79-30%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0001978,Extramedullary hematopoiesis,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0002089,Pulmonary hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0002246,Abnormal duodenum morphology,Very rare (<4-1%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0004492,Widely patent fontanelles and sutures,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0005301,Persistent left superior vena cava,Very frequent (99-80%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0006434,Hypoplasia of proximal radius,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0009085,Alveolar ridge overgrowth,Very rare (<4-1%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0009738,Abnormal antihelix morphology,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0009891,Underdeveloped supraorbital ridges,Frequent (79-30%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0010720,Abnormal hair pattern,Very rare (<4-1%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0011445,Athetoid cerebral palsy,Very rare (<4-1%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0012745,Short palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010089,Orphanet,2886,ORPHA:2886,55,HP:0100259,Postaxial polydactyly,Very rare (<4-1%),TAS,,,,"[PMID:12794682, PMID:20451169, PMID:30450804, PMID:30462380, PMID:5410571]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000023,Inguinal hernia,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000028,Cryptorchidism,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000034,Hydrocele testis,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000047,Hypospadias,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000073,Ureteral duplication,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000074,Ureteropelvic junction obstruction,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000104,Renal agenesis,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000126,Hydronephrosis,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000144,Decreased fertility,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000405,Conductive hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000483,Astigmatism,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000540,Hypermetropia,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000545,Myopia,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000668,Hypodontia,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000696,Delayed eruption of permanent teeth,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000767,Pectus excavatum,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0000953,Hyperpigmentation of the skin,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001010,Hypopigmentation of the skin,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001028,Hemangioma,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001363,Craniosynostosis,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001537,Umbilical hernia,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001741,Phimosis,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001762,Talipes equinovarus,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001792,Small nail,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0001998,Neonatal hypoglycemia,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002251,Aganglionic megacolon,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002280,Enlarged cisterna magna,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002370,Poor coordination,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002389,Cavum septum pellucidum,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002442,Dyscalculia,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002664,Neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0003006,Neuroblastoma,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0003072,Hypercalcemia,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0003273,Hip contracture,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0003468,Abnormal vertebral morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0004691,2-3 toe syndactyly,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0004768,Sparse anterior scalp hair,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0005617,Bilateral camptodactyly,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0006466,Ankle flexion contracture,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0006579,Prolonged neonatal jaundice,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0006721,Acute lymphoblastic leukemia,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0007018,Attention deficit hyperactivity disorder,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0008498,No permanent dentition,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0009592,Astrocytoma,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0009797,Cholesteatoma,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0010957,Congenital posterior urethral valve,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0012771,Increased arm span,Very frequent (99-80%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0030357,Small cell lung carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0030736,Sacrococcygeal teratoma,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0031284,Flushing,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0032447,Pulmonary bleb,Very rare (<4-1%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0040194,Increased head circumference,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0400000,Tall chin,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010091,Orphanet,821,ORPHA:821,107,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301652, PMID:31479583]",y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,[PMID:22083147],y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,[PMID:22083147],y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,[PMID:22083147],y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,[PMID:22083147],y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,[PMID:22083147],y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:22083147],y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0001644,Dilated cardiomyopathy,Frequent (79-30%),TAS,,,,[PMID:22083147],y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0002612,Congenital hepatic fibrosis,Very frequent (99-80%),TAS,,,,[PMID:22083147],y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,[PMID:22083147],y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0003040,Arthropathy,Frequent (79-30%),TAS,,,,[PMID:22083147],y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0003281,Increased circulating ferritin concentration,Very frequent (99-80%),TAS,,,,[PMID:22083147],y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0007440,Generalized hyperpigmentation,Frequent (79-30%),TAS,,,,[PMID:22083147],y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0011031,Abnormality of iron homeostasis,Very frequent (99-80%),TAS,,,,[PMID:22083147],y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0012093,Abnormality of endocrine pancreas physiology,Occasional (29-5%),TAS,,,,[PMID:22083147],y,y +GARD:0010092,Orphanet,79230,ORPHA:79230,15,HP:0012463,Elevated transferrin saturation,Very frequent (99-80%),TAS,,,,[PMID:22083147],y,y +GARD:0010094,Orphanet,139491,ORPHA:139491,10,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010094,Orphanet,139491,ORPHA:139491,10,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010094,Orphanet,139491,ORPHA:139491,10,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010094,Orphanet,139491,ORPHA:139491,10,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010094,Orphanet,139491,ORPHA:139491,10,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010094,Orphanet,139491,ORPHA:139491,10,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0010094,Orphanet,139491,ORPHA:139491,10,HP:0002612,Congenital hepatic fibrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010094,Orphanet,139491,ORPHA:139491,10,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010094,Orphanet,139491,ORPHA:139491,10,HP:0003281,Increased circulating ferritin concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010094,Orphanet,139491,ORPHA:139491,10,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010096,Orphanet,523,ORPHA:523,11,HP:0000131,Uterine leiomyoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010096,Orphanet,523,ORPHA:523,11,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0010096,Orphanet,523,ORPHA:523,11,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010096,Orphanet,523,ORPHA:523,11,HP:0002891,Uterine leiomyosarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010096,Orphanet,523,ORPHA:523,11,HP:0003011,Abnormality of the musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010096,Orphanet,523,ORPHA:523,11,HP:0006732,Papillary renal cell carcinoma type 2,Occasional (29-5%),TAS,,,,,y,y +GARD:0010096,Orphanet,523,ORPHA:523,11,HP:0007437,Multiple cutaneous leiomyomas,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010096,Orphanet,523,ORPHA:523,11,HP:0007620,Cutaneous leiomyoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010096,Orphanet,523,ORPHA:523,11,HP:0100580,Barrett esophagus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010096,Orphanet,523,ORPHA:523,11,HP:0100650,Vaginal neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0010096,Orphanet,523,ORPHA:523,11,HP:0100751,Esophageal neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0010103,Orphanet,79148,ORPHA:79148,11,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,"[PMID:24648695, PMID:27881947]",y,y +GARD:0010103,Orphanet,79148,ORPHA:79148,11,HP:0000464,Abnormality of the neck,Very frequent (99-80%),TAS,,,,"[PMID:24648695, PMID:27881947]",y,y +GARD:0010103,Orphanet,79148,ORPHA:79148,11,HP:0000973,Cutis laxa,Occasional (29-5%),TAS,,,,"[PMID:24648695, PMID:27881947]",y,y +GARD:0010103,Orphanet,79148,ORPHA:79148,11,HP:0007473,Crusting erythematous dermatitis,Occasional (29-5%),TAS,,,,"[PMID:24648695, PMID:27881947]",y,y +GARD:0010103,Orphanet,79148,ORPHA:79148,11,HP:0025092,Epidermal acanthosis,Occasional (29-5%),TAS,,,,"[PMID:24648695, PMID:27881947]",y,y +GARD:0010103,Orphanet,79148,ORPHA:79148,11,HP:0025512,Skin-colored papule,Frequent (79-30%),TAS,,,,"[PMID:24648695, PMID:27881947]",y,y +GARD:0010103,Orphanet,79148,ORPHA:79148,11,HP:0025527,Serpiginous cutaneous lesion,Frequent (79-30%),TAS,,,,"[PMID:24648695, PMID:27881947]",y,y +GARD:0010103,Orphanet,79148,ORPHA:79148,11,HP:0025528,Annular cutaneous lesion,Frequent (79-30%),TAS,,,,"[PMID:24648695, PMID:27881947]",y,y +GARD:0010103,Orphanet,79148,ORPHA:79148,11,HP:0030350,Erythematous papule,Frequent (79-30%),TAS,,,,"[PMID:24648695, PMID:27881947]",y,y +GARD:0010103,Orphanet,79148,ORPHA:79148,11,HP:0045059,Hyperkeratotic papule,Very frequent (99-80%),TAS,,,,"[PMID:24648695, PMID:27881947]",y,y +GARD:0010103,Orphanet,79148,ORPHA:79148,11,HP:0200035,Skin plaque,Frequent (79-30%),TAS,,,,"[PMID:24648695, PMID:27881947]",y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000059,Hypoplastic labia majora,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000130,Abnormality of the uterus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000294,Low anterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000498,Blepharitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000527,Long eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000667,Phthisis bulbi,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000687,Widely spaced teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000786,Primary amenorrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0000965,Cutis marmorata,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001557,Prenatal movement abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0001956,Truncal obesity,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002557,Hypoplastic nipples,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002580,Volvulus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0002997,Abnormality of the ulna,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0003042,Elbow dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0007665,Curly eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0008850,Severe postnatal growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0009623,Proximal placement of thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0010034,Short 1st metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0010300,Abnormally low-pitched voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0010880,Increased nuchal translucency,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0012165,Oligodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010109,Orphanet,199,ORPHA:199,100,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010116,Orphanet,91132,ORPHA:91132,2,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010116,Orphanet,91132,ORPHA:91132,2,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010118,Orphanet,75382,ORPHA:75382,13,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:25307992, PMID:31257036, PMID:31864474, PMID:32146548, PMID:32953689]",y,y +GARD:0010118,Orphanet,75382,ORPHA:75382,13,HP:0000505,Visual impairment,Very rare (<4-1%),TAS,,,,"[PMID:25307992, PMID:31257036, PMID:31864474, PMID:32146548, PMID:32953689]",y,y +GARD:0010118,Orphanet,75382,ORPHA:75382,13,HP:0000510,Rod-cone dystrophy,Very rare (<4-1%),TAS,,,,"[PMID:25307992, PMID:31257036, PMID:31864474, PMID:32146548, PMID:32953689]",y,y +GARD:0010118,Orphanet,75382,ORPHA:75382,13,HP:0000539,Abnormality of refraction,Occasional (29-5%),TAS,,,,"[PMID:25307992, PMID:31257036, PMID:31864474, PMID:32146548, PMID:32953689]",y,y +GARD:0010118,Orphanet,75382,ORPHA:75382,13,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:25307992, PMID:31257036, PMID:31864474, PMID:32146548, PMID:32953689]",y,y +GARD:0010118,Orphanet,75382,ORPHA:75382,13,HP:0000608,Macular degeneration,Occasional (29-5%),TAS,,,,"[PMID:25307992, PMID:31257036, PMID:31864474, PMID:32146548, PMID:32953689]",y,y +GARD:0010118,Orphanet,75382,ORPHA:75382,13,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:25307992, PMID:31257036, PMID:31864474, PMID:32146548, PMID:32953689]",y,y +GARD:0010118,Orphanet,75382,ORPHA:75382,13,HP:0000651,Diplopia,Very rare (<4-1%),TAS,,,,"[PMID:25307992, PMID:31257036, PMID:31864474, PMID:32146548, PMID:32953689]",y,y +GARD:0010118,Orphanet,75382,ORPHA:75382,13,HP:0001123,Visual field defect,Excluded (0%),TAS,,,,"[PMID:25307992, PMID:31257036, PMID:31864474, PMID:32146548, PMID:32953689]",y,y +GARD:0010118,Orphanet,75382,ORPHA:75382,13,HP:0007641,Dyschromatopsia,Excluded (0%),TAS,,,,"[PMID:25307992, PMID:31257036, PMID:31864474, PMID:32146548, PMID:32953689]",y,y +GARD:0010118,Orphanet,75382,ORPHA:75382,13,HP:0007642,Congenital stationary night blindness,Very frequent (99-80%),TAS,,,,"[PMID:25307992, PMID:31257036, PMID:31864474, PMID:32146548, PMID:32953689]",y,y +GARD:0010118,Orphanet,75382,ORPHA:75382,13,HP:0007984,Electronegative electroretinogram,Very frequent (99-80%),TAS,,,,"[PMID:25307992, PMID:31257036, PMID:31864474, PMID:32146548, PMID:32953689]",y,y +GARD:0010118,Orphanet,75382,ORPHA:75382,13,HP:0030824,Mizuo phenomenon,Very frequent (99-80%),TAS,,,,"[PMID:25307992, PMID:31257036, PMID:31864474, PMID:32146548, PMID:32953689]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0000556,Retinal dystrophy,Frequent (79-30%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0000613,Photophobia,Excluded (0%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0000639,Nystagmus,Excluded (0%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0001105,Retinal atrophy,Frequent (79-30%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0001252,Hypotonia,Excluded (0%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0001956,Truncal obesity,Very frequent (99-80%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0007675,Progressive night blindness,Frequent (79-30%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010121,Orphanet,75858,ORPHA:75858,18,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:16493448, PMID:31173343]",y,y +GARD:0010123,Orphanet,75373,ORPHA:75373,7,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,[PMID:8541856],y,y +GARD:0010123,Orphanet,75373,ORPHA:75373,7,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,[PMID:8541856],y,y +GARD:0010123,Orphanet,75373,ORPHA:75373,7,HP:0000565,Esotropia,Very frequent (99-80%),TAS,,,,[PMID:8541856],y,y +GARD:0010123,Orphanet,75373,ORPHA:75373,7,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,[PMID:8541856],y,y +GARD:0010123,Orphanet,75373,ORPHA:75373,7,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,[PMID:8541856],y,y +GARD:0010123,Orphanet,75373,ORPHA:75373,7,HP:0001135,Chorioretinal dystrophy,Very frequent (99-80%),TAS,,,,[PMID:8541856],y,y +GARD:0010123,Orphanet,75373,ORPHA:75373,7,HP:0007401,Macular atrophy,Very frequent (99-80%),TAS,,,,[PMID:8541856],y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0000026,Male hypogonadism,Obligate (100%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0000027,Azoospermia,Frequent (79-30%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0000029,Testicular atrophy,Frequent (79-30%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0000044,Hypogonadotropic hypogonadism,Obligate (100%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0000134,Female hypogonadism,Obligate (100%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0000458,Anosmia,Excluded (0%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0000798,Oligospermia,Frequent (79-30%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0000876,Oligomenorrhea,Frequent (79-30%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0002215,Sparse axillary hair,Very frequent (99-80%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0002225,Sparse pubic hair,Very frequent (99-80%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0008213,Gonadotropin deficiency,Obligate (100%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0008214,Decreased serum estradiol,Very frequent (99-80%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0010791,Hyperplasia of the Leydig cells,Frequent (79-30%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0012569,Delayed menarche,Very frequent (99-80%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0012814,Bilateral breast hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0012864,Abnormal sperm morphology,Frequent (79-30%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0030018,Decreased female libido,Frequent (79-30%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010128,Orphanet,52901,ORPHA:52901,22,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:1092710, PMID:11041762, PMID:15705395, PMID:19966036, PMID:4344039, PMID:8220432, PMID:90239, PMID:9271483, PMID:9280841]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0000053,Macroorchidism,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0000282,Facial edema,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0000716,Depression,Very rare (<4-1%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0000853,Goiter,Very rare (<4-1%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0000870,Increased circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0001615,Hoarse cry,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0002045,Hypothermia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0002690,Large sella turcica,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0003124,Hypercholesterolemia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0003265,Neonatal hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0004491,Large posterior fontanelle,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0005990,Thyroid hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0006579,Prolonged neonatal jaundice,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0008245,Pituitary hypothyroidism,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0008828,Delayed proximal femoral epiphyseal ossification,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0011437,Maternal autoimmune disease,Excluded (0%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0025483,Abnormal circulating thyroglobulin level,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0031098,Decreased thyroid-stimulating hormone level,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0031208,Increased pituitary glycoprotein hormone alpha subunit level,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0031219,Reduced radioactive iodine uptake,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010129,Orphanet,90674,ORPHA:90674,42,HP:0031507,Decreased circulating T4 level,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000960,Sacral dimple,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0001176,Large hands,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0001581,Recurrent skin infections,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0001800,Hypoplastic toenails,Very frequent (99-80%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0003763,Bruxism,Very frequent (99-80%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0007328,Impaired pain sensation,Very frequent (99-80%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0008278,Cerebellar cortical atrophy,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0012167,Hair-pulling,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0012787,Recurrent pyelonephritis,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,[PMID:20301377],y,y +GARD:0010130,Orphanet,48652,ORPHA:48652,51,HP:0100702,Arachnoid cyst,Occasional (29-5%),TAS,,,,[PMID:20301377],y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0000079,Abnormality of the urinary system,Frequent (79-30%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0002483,Bulbar signs,Frequent (79-30%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0003474,Somatic sensory dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0003484,Upper limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0003698,Difficulty standing,Frequent (79-30%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0007289,Limb fasciculations,Frequent (79-30%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0007340,Lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0010546,Muscle fibrillation,Frequent (79-30%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0010827,Abnormality of the seventh cranial nerve,Occasional (29-5%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0011014,Abnormal glucose homeostasis,Occasional (29-5%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0011964,Intermittent painful muscle spasms,Very frequent (99-80%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0030007,EMG: positive sharp waves,Frequent (79-30%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0030179,Abnormal peripheral action potential amplitude,Very frequent (99-80%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0030200,Fatiguable weakness of proximal limb muscles,Very frequent (99-80%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0031910,Abnormal cranial nerve physiology,Frequent (79-30%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010131,Orphanet,90117,ORPHA:90117,28,HP:0410262,Lower cranial nerve dysfunction,Occasional (29-5%),TAS,,,,"[PMID:25725944, PMID:29552439]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0002495,Impaired vibratory sensation,Very frequent (99-80%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0002505,Loss of ambulation,Occasional (29-5%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0002936,Distal sensory impairment,Very frequent (99-80%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0003409,Distal sensory impairment of all modalities,Very frequent (99-80%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0003431,Decreased motor nerve conduction velocity,Very frequent (99-80%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0003477,Peripheral axonal neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0007108,Demyelinating peripheral neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0007210,Lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0007230,Decreased distal sensory nerve action potential,Very frequent (99-80%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0008959,Distal upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0009129,Upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0010830,Impaired tactile sensation,Frequent (79-30%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0011096,Peripheral demyelination,Very frequent (99-80%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010132,Orphanet,99953,ORPHA:99953,27,HP:0012078,Motor conduction block,Very frequent (99-80%),TAS,,,,"[PMID:11601496, PMID:20301641, PMID:22978647, PMID:26822750]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0000182,Movement abnormality of the tongue,Frequent (79-30%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0000643,Blepharospasm,Occasional (29-5%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0001618,Dysphonia,Very frequent (99-80%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0002075,Dysdiadochokinesis,Occasional (29-5%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0003782,Eunuchoid habitus,Frequent (79-30%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0007325,Generalized dystonia,Very frequent (99-80%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0007351,Upper limb postural tremor,Occasional (29-5%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0009938,Sunken cheeks,Frequent (79-30%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010138,Orphanet,98805,ORPHA:98805,17,HP:0012049,Laryngeal dystonia,Very frequent (99-80%),TAS,,,,"[PMID:21956287, PMID:3156966]",y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000016,Urinary retention,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000243,Trigonocephaly,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000297,Facial hypotonia,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000589,Coloboma,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0000998,Hypertrichosis,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0001052,Nevus flammeus,Very frequent (99-80%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0001081,Cholelithiasis,Very rare (<4-1%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0001105,Retinal atrophy,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0001525,Severe failure to thrive,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0001640,Cardiomegaly,Very rare (<4-1%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0001662,Bradycardia,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0001671,Abnormal cardiac septum morphology,Very rare (<4-1%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0001734,Annular pancreas,Very rare (<4-1%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0002104,Apnea,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0002667,Nephroblastoma,Very rare (<4-1%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0002803,Congenital contracture,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0002885,Medulloblastoma,Very rare (<4-1%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0003049,Ulnar deviation of the wrist,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0005487,Prominent metopic ridge,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0006070,Metacarpophalangeal joint contracture,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0006471,Fixed elbow flexion,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0006863,Severe expressive language delay,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0006895,Lower limb hypertonia,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0010291,Prominent palatine ridges,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0010733,Naevus flammeus of the eyelid,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0011003,High myopia,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0012453,Bilateral wrist flexion contracture,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0012537,Food intolerance,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0040082,Happy demeanor,Frequent (79-30%),TAS,,,,[PMID:29446906],y,y +GARD:0010140,Orphanet,97297,ORPHA:97297,65,HP:0410030,Cleft lip,Occasional (29-5%),TAS,,,,[PMID:29446906],y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0000600,Abnormality of the pharynx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0000717,Autism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0002474,Expressive language delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0006482,Abnormality of dental morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0008499,High hypermetropia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0010529,Echolalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0010535,Sleep apnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0010807,Open bite,Occasional (29-5%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0011098,Speech apraxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010145,Orphanet,1713,ORPHA:1713,35,HP:0200136,Oral-pharyngeal dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0000074,Ureteropelvic junction obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0000402,Stenosis of the external auditory canal,Frequent (79-30%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0000413,Atresia of the external auditory canal,Frequent (79-30%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0004452,Abnormality of the middle ear ossicles,Frequent (79-30%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0008572,External ear malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0008586,Hypoplasia of the cochlea,Frequent (79-30%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0009796,Branchial cyst,Frequent (79-30%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0011388,Enlarged cochlear aqueduct,Frequent (79-30%),TAS,,,,,y,y +GARD:0010147,Orphanet,107,ORPHA:107,19,HP:0011481,Abnormal lacrimal duct morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0000356,Abnormality of the outer ear,Frequent (79-30%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0000359,Abnormality of the inner ear,Frequent (79-30%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0000413,Atresia of the external auditory canal,Frequent (79-30%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0000614,Abnormal nasolacrimal system morphology,Occasional (29-5%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0004467,Preauricular pit,Very frequent (99-80%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0008609,Morphological abnormality of the middle ear,Frequent (79-30%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0009795,Branchial fistula,Frequent (79-30%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010148,Orphanet,52429,ORPHA:52429,16,HP:0100267,Lip pit,Occasional (29-5%),TAS,,,,"[PMID:23840632, PMID:24698626]",y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0000895,Lateral clavicle hook,Frequent (79-30%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0000907,Anterior rib cupping,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0000921,Missing ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0003180,Flat acetabular roof,Frequent (79-30%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0003498,Disproportionate short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0010561,Undulate ribs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010149,Orphanet,1801,ORPHA:1801,18,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000276,Long face,Frequent (79-30%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000480,Retinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000556,Retinal dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000657,Oculomotor apraxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0001320,Cerebellar vermis hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0001651,Dextrocardia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0001829,Foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0002104,Apnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0002419,Molar tooth sign on MRI,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0002793,Abnormal pattern of respiration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,,y,y +GARD:0010168,Orphanet,220493,ORPHA:220493,40,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000276,Long face,Frequent (79-30%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000657,Oculomotor apraxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0001320,Cerebellar vermis hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0002104,Apnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0002419,Molar tooth sign on MRI,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0002793,Abnormal pattern of respiration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,,y,y +GARD:0010169,Orphanet,220497,ORPHA:220497,36,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0000155,Oral ulcer,Occasional (29-5%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0000277,Abnormal mandible morphology,Very frequent (99-80%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0000326,Abnormality of the maxilla,Very frequent (99-80%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0000700,Periapical bone loss,Frequent (79-30%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0001571,Multiple impacted teeth,Frequent (79-30%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0003330,Abnormal bone structure,Very frequent (99-80%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0006308,Atrophy of alveolar ridges,Occasional (29-5%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0006481,Abnormality of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0006483,Abnormal number of teeth,Occasional (29-5%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0007626,Mandibular osteomyelitis,Occasional (29-5%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0009088,Speech articulation difficulties,Occasional (29-5%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0012065,Multiple bony cystic lesions,Occasional (29-5%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0030793,Jaw swelling,Occasional (29-5%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0031035,Chronic infection,Occasional (29-5%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0100671,Abnormal trabecular bone morphology,Very frequent (99-80%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0100717,Abnormal cementum morphology,Very frequent (99-80%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0430026,Abnormality of the shape of the midface,Frequent (79-30%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010173,Orphanet,83451,ORPHA:83451,23,HP:0430028,Hyperplasia of the maxilla,Frequent (79-30%),TAS,,,,"[PMID:28194495, PMID:31942128, PMID:32315206]",y,y +GARD:0010175,Orphanet,99978,ORPHA:99978,10,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010175,Orphanet,99978,ORPHA:99978,10,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0010175,Orphanet,99978,ORPHA:99978,10,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0010175,Orphanet,99978,ORPHA:99978,10,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0010175,Orphanet,99978,ORPHA:99978,10,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010175,Orphanet,99978,ORPHA:99978,10,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0010175,Orphanet,99978,ORPHA:99978,10,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010175,Orphanet,99978,ORPHA:99978,10,HP:0012334,Extrahepatic cholestasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010175,Orphanet,99978,ORPHA:99978,10,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0010175,Orphanet,99978,ORPHA:99978,10,HP:0030153,Cholangiocarcinoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0001081,Cholelithiasis,Frequent (79-30%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0002904,Hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0011848,Abdominal colic,Occasional (29-5%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0011980,Cholesterol gallstones,Frequent (79-30%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0030154,Gallbladder perforation,Very rare (<4-1%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0040319,Dark urine,Frequent (79-30%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0100889,Abnormality of the ductus choledochus,Very rare (<4-1%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010177,Orphanet,521219,ORPHA:521219,20,HP:0410019,Epigastric pain,Occasional (29-5%),TAS,,,,"[PMID:28653000, PMID:29494098]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0000372,Abnormality of the auditory canal,Very rare (<4-1%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0000464,Abnormality of the neck,Frequent (79-30%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0000505,Visual impairment,Very rare (<4-1%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0001965,Abnormal scalp morphology,Frequent (79-30%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0002671,Basal cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0007606,Multiple cutaneous malignancies,Occasional (29-5%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0010287,Abnormality of the submandibular glands,Very rare (<4-1%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0010288,Abnormality of the sublingual glands,Very rare (<4-1%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0010628,Facial palsy,Very rare (<4-1%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0010732,Nodular changes affecting the eyelids,Occasional (29-5%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0012842,Skin appendage neoplasm,Frequent (79-30%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0025367,Trichoepithelioma,Frequent (79-30%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0025512,Skin-colored papule,Occasional (29-5%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0031024,Cylindroma,Very frequent (99-80%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0100684,Salivary gland neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0200036,Skin nodule,Frequent (79-30%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010179,Orphanet,79493,ORPHA:79493,20,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:15854031, PMID:24587929, PMID:26971504, PMID:30093932]",y,y +GARD:0010193,Orphanet,86884,ORPHA:86884,11,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:22829967, PMID:30374066]",y,y +GARD:0010193,Orphanet,86884,ORPHA:86884,11,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:22829967, PMID:30374066]",y,y +GARD:0010193,Orphanet,86884,ORPHA:86884,11,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:22829967, PMID:30374066]",y,y +GARD:0010193,Orphanet,86884,ORPHA:86884,11,HP:0003256,Abnormality of the coagulation cascade,Frequent (79-30%),TAS,,,,"[PMID:22829967, PMID:30374066]",y,y +GARD:0010193,Orphanet,86884,ORPHA:86884,11,HP:0012156,Hemophagocytosis,Frequent (79-30%),TAS,,,,"[PMID:22829967, PMID:30374066]",y,y +GARD:0010193,Orphanet,86884,ORPHA:86884,11,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:22829967, PMID:30374066]",y,y +GARD:0010193,Orphanet,86884,ORPHA:86884,11,HP:0012490,Panniculitis,Very frequent (99-80%),TAS,,,,"[PMID:22829967, PMID:30374066]",y,y +GARD:0010193,Orphanet,86884,ORPHA:86884,11,HP:0025143,Chills,Frequent (79-30%),TAS,,,,"[PMID:22829967, PMID:30374066]",y,y +GARD:0010193,Orphanet,86884,ORPHA:86884,11,HP:0025474,Erythematous plaque,Frequent (79-30%),TAS,,,,"[PMID:22829967, PMID:30374066]",y,y +GARD:0010193,Orphanet,86884,ORPHA:86884,11,HP:0030350,Erythematous papule,Very frequent (99-80%),TAS,,,,"[PMID:22829967, PMID:30374066]",y,y +GARD:0010193,Orphanet,86884,ORPHA:86884,11,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,"[PMID:22829967, PMID:30374066]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0000543,Optic disc pallor,Frequent (79-30%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0000551,Color vision defect,Frequent (79-30%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0000603,Central scotoma,Frequent (79-30%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0000762,Decreased nerve conduction velocity,Occasional (29-5%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0002075,Dysdiadochokinesis,Occasional (29-5%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0012164,Asterixis,Occasional (29-5%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010199,Orphanet,98890,ORPHA:98890,17,HP:0012638,Abnormal nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:123591, PMID:16969871, PMID:27169914]",y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0002558,Supernumerary nipple,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0002667,Nephroblastoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0002779,Tracheomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0010761,Broad columella,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0010202,Orphanet,1001,ORPHA:1001,52,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0000505,Visual impairment,Obligate (100%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0000552,Tritanomaly,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0000603,Central scotoma,Frequent (79-30%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0000642,Red-green dyschromatopsia,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0001172,Abnormal thumb morphology,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0001377,Limited elbow extension,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0002322,Resting tremor,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0002403,Positive Romberg sign,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0002522,Areflexia of lower limbs,Frequent (79-30%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0003438,Absent Achilles reflex,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0006248,Limited wrist movement,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0007076,Extrapyramidal muscular rigidity,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0007787,Posterior subcapsular cataract,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0007795,Anterior cortical cataract,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0007976,Cerulean cataract,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0009468,Deviation of the 2nd finger,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0010522,Dyslexia,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0010923,Anterior subcapsular cataract,Occasional (29-5%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0010924,Posterior cortical cataract,Frequent (79-30%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010203,Orphanet,67036,ORPHA:67036,35,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:15342707, PMID:15924081, PMID:22797356]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0001396,Cholestasis,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0001892,Abnormal bleeding,Very rare (<4-1%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0002161,Hyperlysinemia,Frequent (79-30%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0002904,Hyperbilirubinemia,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0002919,Ketonuria,Occasional (29-5%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0003073,Hypoalbuminemia,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0003119,Abnormal circulating lipid concentration,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0003124,Hypercholesterolemia,Occasional (29-5%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0003141,Increased LDL cholesterol concentration,Occasional (29-5%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0003155,Elevated circulating alkaline phosphatase concentration,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0003231,Hypertyrosinemia,Frequent (79-30%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0003233,Decreased HDL cholesterol concentration,Occasional (29-5%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0003235,Hypermethioninemia,Occasional (29-5%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0003354,Hyperthreoninemia,Occasional (29-5%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0006254,Elevated alpha-fetoprotein,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0008151,Prolonged prothrombin time,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0010903,Abnormal circulating glutamine concentration,Frequent (79-30%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0010909,Abnormal circulating arginine concentration,Frequent (79-30%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0010916,Abnormal circulating alanine concentration,Frequent (79-30%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0011966,Elevated plasma citrulline,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0012024,Hypergalactosemia,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0012278,Abnormal circulating serine concentration,Occasional (29-5%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0025435,Increased circulating lactate dehydrogenase concentration,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0030948,Elevated gamma-glutamyltransferase level,Very frequent (99-80%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010214,Orphanet,247598,ORPHA:247598,41,HP:0040301,Increased urinary glycerol,Occasional (29-5%),TAS,,,,"[PMID:12424587, PMID:16311094, PMID:19185551, PMID:21424115, PMID:23430852]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0000711,Restlessness,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0000738,Hallucinations,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0000746,Delusions,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0000805,Enuresis,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0001395,Hepatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0001397,Hepatic steatosis,Very frequent (99-80%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0001402,Hepatocellular carcinoma,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0002181,Cerebral edema,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0002329,Drowsiness,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0002480,Hepatic encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0003075,Hypoproteinemia,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0003124,Hypercholesterolemia,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0003233,Decreased HDL cholesterol concentration,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0007159,Fluctuations in consciousness,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0008281,Acute hyperammonemia,Very frequent (99-80%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0010529,Echolalia,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0011966,Elevated plasma citrulline,Very frequent (99-80%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0012164,Asterixis,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0012569,Delayed menarche,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0030166,Night sweats,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0030765,Sleep terror,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0031258,Delirium,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0045082,Decreased body mass index,Very frequent (99-80%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0100738,Abnormal eating behavior,Frequent (79-30%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0100754,Mania,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010215,Orphanet,247585,ORPHA:247585,46,HP:0100785,Insomnia,Occasional (29-5%),TAS,,,,"[PMID:11153906, PMID:18620775, PMID:20301360, PMID:30588060]",y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0000003,Multicystic kidney dysplasia,Very frequent (99-80%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0000813,Bicornuate uterus,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0001994,Renal Fanconi syndrome,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0002149,Hyperuricemia,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0005584,Renal cell carcinoma,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0009715,Papillary cystadenoma of the epididymis,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0012092,Abnormality of exocrine pancreas physiology,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0012093,Abnormality of endocrine pancreas physiology,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0012873,Absent vas deferens,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0100800,Aplasia/Hypoplasia of the pancreas,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010221,Orphanet,93111,ORPHA:93111,29,HP:0100820,Glomerulopathy,Occasional (29-5%),TAS,,,,[PMID:16249435],y,y +GARD:0010223,Orphanet,79159,ORPHA:79159,11,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:12736383, PMID:15505379, PMID:16857760, PMID:28053874, PMID:30253142]",y,y +GARD:0010223,Orphanet,79159,ORPHA:79159,11,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:12736383, PMID:15505379, PMID:16857760, PMID:28053874, PMID:30253142]",y,y +GARD:0010223,Orphanet,79159,ORPHA:79159,11,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:12736383, PMID:15505379, PMID:16857760, PMID:28053874, PMID:30253142]",y,y +GARD:0010223,Orphanet,79159,ORPHA:79159,11,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:12736383, PMID:15505379, PMID:16857760, PMID:28053874, PMID:30253142]",y,y +GARD:0010223,Orphanet,79159,ORPHA:79159,11,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:12736383, PMID:15505379, PMID:16857760, PMID:28053874, PMID:30253142]",y,y +GARD:0010223,Orphanet,79159,ORPHA:79159,11,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:12736383, PMID:15505379, PMID:16857760, PMID:28053874, PMID:30253142]",y,y +GARD:0010223,Orphanet,79159,ORPHA:79159,11,HP:0003215,Dicarboxylic aciduria,Frequent (79-30%),TAS,,,,"[PMID:12736383, PMID:15505379, PMID:16857760, PMID:28053874, PMID:30253142]",y,y +GARD:0010223,Orphanet,79159,ORPHA:79159,11,HP:0003234,Decreased plasma carnitine,Frequent (79-30%),TAS,,,,"[PMID:12736383, PMID:15505379, PMID:16857760, PMID:28053874, PMID:30253142]",y,y +GARD:0010223,Orphanet,79159,ORPHA:79159,11,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:12736383, PMID:15505379, PMID:16857760, PMID:28053874, PMID:30253142]",y,y +GARD:0010223,Orphanet,79159,ORPHA:79159,11,HP:0012734,Ketotic hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:12736383, PMID:15505379, PMID:16857760, PMID:28053874, PMID:30253142]",y,y +GARD:0010223,Orphanet,79159,ORPHA:79159,11,HP:0045045,Elevated circulating acylcarnitine concentration,Frequent (79-30%),TAS,,,,"[PMID:12736383, PMID:15505379, PMID:16857760, PMID:28053874, PMID:30253142]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0000083,Renal insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0000123,Nephritis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0000246,Sinusitis,Frequent (79-30%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0000265,Mastoiditis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0000421,Epistaxis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0000508,Ptosis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0000520,Proptosis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0000541,Retinal detachment,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0000544,External ophthalmoplegia,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0000629,Periorbital fullness,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0000651,Diplopia,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0001291,Abnormal cranial nerve morphology,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0001701,Pericarditis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0001733,Pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0001742,Nasal congestion,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0001993,Ketoacidosis,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002107,Pneumothorax,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002113,Pulmonary infiltrates,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002239,Gastrointestinal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002248,Hematemesis,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002249,Melena,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002573,Hematochezia,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002583,Colitis,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002586,Peritonitis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0002797,Osteolysis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0004377,Hematological neoplasm,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0004387,Enterocolitis,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0004418,Thrombophlebitis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0004420,Arterial thrombosis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0004944,Dilatation of the cerebral artery,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0005263,Gastritis,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0007185,Loss of consciousness,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0011949,Acute infectious pneumonia,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0012115,Hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0012375,Chemosis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0012819,Myocarditis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0020101,Invasive fungal infection,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0025059,Splenic abscess,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0025326,Retinal arterial occlusion,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0030049,Brain abscess,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0031369,Colon perforation,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0031417,Rhinorrhea,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0032162,Unusual skin infection,Frequent (79-30%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0032166,Unusual gastrointestinal infection,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0032172,Air crescent sign,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0032177,Parenchymal consolidation,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0032564,Ileitis,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0032674,Cutaneous wound,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0045026,Abnormality of the mediastinum,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0100537,Fasciitis,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0100539,Periorbital edema,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0100584,Endocarditis,Very rare (<4-1%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0100721,Mediastinal lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0100750,Atelectasis,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0200035,Skin plaque,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010224,Orphanet,73263,ORPHA:73263,76,HP:0200039,Pustule,Occasional (29-5%),TAS,,,,"[PMID:16568297, PMID:17848885, PMID:19754758]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000201,Pierre-Robin sequence,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000253,Progressive microcephaly,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000475,Broad neck,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000902,Rib fusion,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0001103,Abnormal macular morphology,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0002092,Pulmonary arterial hypertension,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0002280,Enlarged cisterna magna,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0002673,Coxa valga,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0003180,Flat acetabular roof,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0003316,Butterfly vertebrae,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0004582,Irregularity of vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0007033,Cerebellar dysplasia,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0007112,Temporal cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0008905,Rhizomelia,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0011995,Atrial septal dilatation,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0012301,Type II transferrin isoform profile,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010226,Orphanet,263508,ORPHA:263508,43,HP:0030282,Posterior rib gap,Frequent (79-30%),TAS,,,,"[PMID:16537452, PMID:19008299, PMID:20301507]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0000297,Facial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0002792,Reduced vital capacity,Occasional (29-5%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0002795,Abnormal respiratory system physiology,Occasional (29-5%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0003547,Shoulder girdle muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0003698,Difficulty standing,Frequent (79-30%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0003701,Proximal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0003736,Autophagic vacuoles,Frequent (79-30%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0003749,Pelvic girdle muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0005085,Limited knee flexion/extension,Frequent (79-30%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0006376,Limited elbow flexion,Frequent (79-30%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0012496,Reduced maximal inspiratory pressure,Occasional (29-5%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0012515,Hip flexor weakness,Frequent (79-30%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0012548,Fatty replacement of skeletal muscle,Frequent (79-30%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010229,Orphanet,266,ORPHA:266,24,HP:0100297,Increased endomysial connective tissue,Frequent (79-30%),TAS,,,,"[PMID:21336781, PMID:9828127]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000027,Azoospermia,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000105,Enlarged kidney,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000141,Amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000204,Cleft upper lip,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000534,Abnormal eyebrow morphology,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0000998,Hypertrichosis,Frequent (79-30%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0001084,Corneal arcus,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0001935,Microcytic anemia,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0001954,Recurrent fever,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0002110,Bronchiectasis,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0002155,Hypertriglyceridemia,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0002257,Chronic rhinitis,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0002619,Varicose veins,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0003765,Psoriasiform dermatitis,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0007380,Facial telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0009125,Lipodystrophy,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0011025,Abnormal cardiovascular system physiology,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0012385,Camptodactyly,Frequent (79-30%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0012724,Upper eyelid edema,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0030053,Stiff skin,Very frequent (99-80%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0100324,Scleroderma,Very frequent (99-80%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0100727,Histiocytosis,Very frequent (99-80%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0100776,Recurrent pharyngitis,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010239,Orphanet,168569,ORPHA:168569,50,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,"[PMID:16118898, PMID:16155931, PMID:16650224, PMID:18410979, PMID:18940313, PMID:21888995, PMID:22238637, PMID:24131530, PMID:24172204, PMID:7524755, PMID:9545394]",y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000144,Decreased fertility,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000189,Narrow palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000235,Abnormality of the fontanelles or cranial sutures,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000474,Thickened nuchal skin fold,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0001388,Joint laxity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0006733,Acute megakaryocytic leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0007495,Prematurely aged appearance,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0008070,Sparse hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0010808,Protruding tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0010978,Abnormality of immune system physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0100763,Abnormality of the lymphatic system,Frequent (79-30%),TAS,,,,,y,y +GARD:0010247,Orphanet,870,ORPHA:870,48,HP:0100830,Round ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0000099,Glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0000217,Xerostomia,Very frequent (99-80%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0000951,Abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0001097,Keratoconjunctivitis sicca,Very frequent (99-80%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0001871,Abnormality of blood and blood-forming tissues,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0001888,Lymphopenia,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0001895,Normochromic anemia,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0001897,Normocytic anemia,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0001970,Tubulointerstitial nephritis,Frequent (79-30%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0002011,Morphological central nervous system abnormality,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0002072,Chorea,Very rare (<4-1%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0002143,Abnormality of the spinal cord,Very rare (<4-1%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0002613,Biliary cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0003011,Abnormality of the musculature,Frequent (79-30%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0004431,Complement deficiency,Frequent (79-30%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0005195,Polyarticular arthropathy,Frequent (79-30%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0005407,Decreased proportion of CD4-positive helper T cells,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0005421,Decreased serum complement C3,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0005523,Lymphoproliferative disorder,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0006527,Lymphocytic interstitial pneumonia,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0006536,Airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0007141,Sensorimotor neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0009830,Peripheral neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0010702,Increased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0011850,Parotitis,Frequent (79-30%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0012089,Arteritis,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0012219,Erythema nodosum,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0012387,Bronchitis,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0012532,Chronic pain,Frequent (79-30%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0030880,Raynaud phenomenon,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0031088,Vaginal dryness,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0031246,Nonproductive cough,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0031452,Lichenoid skin lesion,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0031950,Usual interstitial pneumonia,Frequent (79-30%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0031983,Abnormal pulmonary thoracic imaging finding,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0032018,Multiple mononeuropathy,Very rare (<4-1%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0045042,Decreased serum complement C4,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0100583,Corneal perforation,Very rare (<4-1%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0100614,Myositis,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0100646,Thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0100653,Optic neuritis,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0100778,Cryoglobulinemia,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0200120,Chronic active hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0200123,Chronic hepatitis,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010252,Orphanet,289390,ORPHA:289390,75,HP:0410008,Abnormality of the peripheral nervous system,Occasional (29-5%),TAS,,,,"[PMID:26093285, PMID:27444892, PMID:28367079]",y,y +GARD:0010263,Orphanet,99927,ORPHA:99927,7,HP:0000836,Hyperthyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010263,Orphanet,99927,ORPHA:99927,7,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010263,Orphanet,99927,ORPHA:99927,7,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010263,Orphanet,99927,ORPHA:99927,7,HP:0005268,Miscarriage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010263,Orphanet,99927,ORPHA:99927,7,HP:0100602,Preeclampsia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010263,Orphanet,99927,ORPHA:99927,7,HP:0100878,Enlarged uterus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010263,Orphanet,99927,ORPHA:99927,7,HP:0400008,Menometrorrhagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0000465,Webbed neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0000912,Sprengel anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0000925,Abnormality of the vertebral column,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0001291,Abnormal cranial nerve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0003043,Abnormal shoulder morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0004602,Cervical C2/C3 vertebral fusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0005107,Abnormal sacrum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0005640,Abnormal vertebral segmentation and fusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0005988,Congenital muscular torticollis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010280,Orphanet,2345,ORPHA:2345,24,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000176,Submucous cleft hard palate,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000193,Bifid uvula,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000363,Abnormal earlobe morphology,Frequent (79-30%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000366,Abnormality of the nose,Frequent (79-30%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001331,Absent septum pellucidum,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001339,Lissencephaly,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001840,Metatarsus adductus,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0002063,Rigidity,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0002133,Status epilepticus,Frequent (79-30%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0002536,Abnormal cortical gyration,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0002983,Micromelia,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0003552,Muscle stiffness,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0004334,Dermal atrophy,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0007227,Macrogyria,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0008065,Aplasia/Hypoplasia of the skin,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0009748,Large earlobe,Frequent (79-30%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0010772,Anomalous pulmonary venous return,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0011001,Increased bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0011002,Osteopetrosis,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010283,Orphanet,35107,ORPHA:35107,57,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:21671375, PMID:24961299]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0001326,EEG with irregular generalized spike and wave complexes,Very rare (<4-1%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0007270,Atypical absence seizure,Very rare (<4-1%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0007332,Focal hemifacial clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0007334,Bilateral tonic-clonic seizure with focal onset,Frequent (79-30%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0010535,Sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0012534,Dysesthesia,Occasional (29-5%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0012557,EEG with centrotemporal focal spike waves,Very frequent (99-80%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010287,Orphanet,1945,ORPHA:1945,21,HP:0025425,Laryngospasm,Frequent (79-30%),TAS,,,,"[PMID:27780283, PMID:28351718, PMID:28801973, PMID:30219586, PMID:31645314]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0000467,Neck muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0001082,Cholecystitis,Very rare (<4-1%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0001513,Obesity,Excluded (0%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0003391,Gowers sign,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0003547,Shoulder girdle muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0003749,Pelvic girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0003805,Rimmed vacuoles,Occasional (29-5%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0006280,Chronic pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0008064,Ichthyosis,Excluded (0%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0008167,Very long chain fatty acid accumulation,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0009027,Foot dorsiflexor weakness,Occasional (29-5%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0009055,Generalized limb muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0009063,Progressive distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0009073,Progressive proximal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0012240,Increased intramyocellular lipid droplets,Very frequent (99-80%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0012548,Fatty replacement of skeletal muscle,Very frequent (99-80%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0012683,Pineal cyst,Very rare (<4-1%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0030237,Hand muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010288,Orphanet,98908,ORPHA:98908,39,HP:0040081,Abnormal circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:17187067, PMID:19038890, PMID:19729869, PMID:21544567, PMID:24836204]",y,y +GARD:0010290,Orphanet,166277,ORPHA:166277,13,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010290,Orphanet,166277,ORPHA:166277,13,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0010290,Orphanet,166277,ORPHA:166277,13,HP:0000629,Periorbital fullness,Frequent (79-30%),TAS,,,,,y,y +GARD:0010290,Orphanet,166277,ORPHA:166277,13,HP:0000703,Dentinogenesis imperfecta,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010290,Orphanet,166277,ORPHA:166277,13,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0010290,Orphanet,166277,ORPHA:166277,13,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,,y,y +GARD:0010290,Orphanet,166277,ORPHA:166277,13,HP:0001863,Toe clinodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010290,Orphanet,166277,ORPHA:166277,13,HP:0002645,Wormian bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0010290,Orphanet,166277,ORPHA:166277,13,HP:0002756,Pathologic fracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0010290,Orphanet,166277,ORPHA:166277,13,HP:0003103,Abnormal cortical bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010290,Orphanet,166277,ORPHA:166277,13,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0010290,Orphanet,166277,ORPHA:166277,13,HP:0009824,Upper limb undergrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0010290,Orphanet,166277,ORPHA:166277,13,HP:0011120,Concave nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0000269,Prominent occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0000612,Iris coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0001048,Cavernous hemangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0002132,Porencephalic cyst,Frequent (79-30%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0002816,Genu recurvatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0003422,Vertebral segmentation defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0004422,Biparietal narrowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0007400,Irregular hyperpigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0009720,Adenoma sebaceum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010291,Orphanet,2612,ORPHA:2612,31,HP:0100555,Asymmetric growth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0000771,Gynecomastia,Very rare (<4-1%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0001272,Cerebellar atrophy,Very frequent (99-80%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0001332,Dystonia,Very rare (<4-1%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0002151,Increased serum lactate,Occasional (29-5%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0002490,Increased CSF lactate,Occasional (29-5%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0003128,Lactic acidosis,Occasional (29-5%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0003457,EMG abnormality,Occasional (29-5%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0004696,Talipes cavus equinovarus,Frequent (79-30%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0012752,Focal T2 hypointense basal ganglia lesion,Frequent (79-30%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010294,Orphanet,139485,ORPHA:139485,24,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:12682339, PMID:15326254, PMID:18319072, PMID:18319074]",y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000066,Labial hypoplasia,Frequent (79-30%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000085,Horseshoe kidney,Frequent (79-30%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000086,Ectopic kidney,Frequent (79-30%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000104,Renal agenesis,Frequent (79-30%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000394,Lop ear,Very frequent (99-80%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000556,Retinal dystrophy,Occasional (29-5%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000625,Eyelid coloboma,Occasional (29-5%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0000813,Bicornuate uterus,Frequent (79-30%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0002023,Anal atresia,Very frequent (99-80%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0002984,Hypoplasia of the radius,Occasional (29-5%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0004415,Pulmonary artery stenosis,Occasional (29-5%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0007754,Macular dystrophy,Occasional (29-5%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0008665,Clitoral hypertrophy,Frequent (79-30%),TAS,,,,[PMID:18297069],y,y +GARD:0010295,Orphanet,140952,ORPHA:140952,28,HP:0011560,Mitral atresia,Occasional (29-5%),TAS,,,,[PMID:18297069],y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0000995,Melanocytic nevus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0005274,Prominent nasal tip,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0007302,Bipolar affective disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010296,Orphanet,199318,ORPHA:199318,21,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010297,Orphanet,1802,ORPHA:1802,13,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010297,Orphanet,1802,ORPHA:1802,13,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010297,Orphanet,1802,ORPHA:1802,13,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010297,Orphanet,1802,ORPHA:1802,13,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010297,Orphanet,1802,ORPHA:1802,13,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010297,Orphanet,1802,ORPHA:1802,13,HP:0002823,Abnormality of femur morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010297,Orphanet,1802,ORPHA:1802,13,HP:0002992,Abnormality of tibia morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010297,Orphanet,1802,ORPHA:1802,13,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010297,Orphanet,1802,ORPHA:1802,13,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010297,Orphanet,1802,ORPHA:1802,13,HP:0004493,Craniofacial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010297,Orphanet,1802,ORPHA:1802,13,HP:0005019,Diaphyseal thickening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010297,Orphanet,1802,ORPHA:1802,13,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010297,Orphanet,1802,ORPHA:1802,13,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000089,Renal hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000113,Polycystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000130,Abnormality of the uterus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000262,Turricephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000276,Long face,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000385,Small earlobe,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000492,Abnormal eyelid morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000600,Abnormality of the pharynx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000627,Posterior embryotoxon,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000716,Depression,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000765,Abnormal thorax morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000778,Hypoplasia of the thymus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000829,Hypoparathyroidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000836,Hyperthyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000929,Abnormal skull morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001051,Seborrheic dermatitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001061,Acne,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001136,Retinal arteriolar tortuosity,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001281,Tetany,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001611,Nasal speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001631,Atrial septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001636,Tetralogy of Fallot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001641,Abnormal pulmonary valve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001646,Abnormal aortic valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001660,Truncus arteriosus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001829,Foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001872,Abnormality of thrombocytes,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002139,Arrhinencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002435,Meningocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002619,Varicose veins,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002691,Platybasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002901,Hypocalcemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0005435,Impaired T cell function,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0006510,Chronic pulmonary obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0007271,Occipital myelomeningocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0007302,Bipolar affective disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0011324,Multiple suture craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0011496,Corneal neovascularization,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0011662,Tricuspid atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0012303,Abnormal aortic arch morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0012732,Anorectal anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0100735,Hypertensive crisis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0100750,Atelectasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010299,Orphanet,567,ORPHA:567,131,HP:0100765,Abnormality of the tonsils,Frequent (79-30%),TAS,,,,,y,y +GARD:0010300,Orphanet,139450,ORPHA:139450,4,HP:0000564,Lacrimal duct atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010300,Orphanet,139450,ORPHA:139450,4,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0010300,Orphanet,139450,ORPHA:139450,4,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010300,Orphanet,139450,ORPHA:139450,4,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0000036,Abnormal penis morphology,Frequent (79-30%),TAS,,,,[PMID:18179883],y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,[PMID:18179883],y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0000104,Renal agenesis,Obligate (100%),TAS,,,,[PMID:18179883],y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,[PMID:18179883],y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,[PMID:18179883],y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0000834,Abnormality of the adrenal glands,Frequent (79-30%),TAS,,,,[PMID:18179883],y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0001510,Growth delay,Obligate (100%),TAS,,,,[PMID:18179883],y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0001562,Oligohydramnios,Obligate (100%),TAS,,,,[PMID:18179883],y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,[PMID:18179883],y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0001642,Pulmonic stenosis,Frequent (79-30%),TAS,,,,[PMID:18179883],y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0002089,Pulmonary hypoplasia,Obligate (100%),TAS,,,,[PMID:18179883],y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0004794,Malrotation of small bowel,Frequent (79-30%),TAS,,,,[PMID:18179883],y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0005343,Hypoplasia of the bladder,Frequent (79-30%),TAS,,,,[PMID:18179883],y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0012245,Sex reversal,Obligate (100%),TAS,,,,[PMID:18179883],y,y +GARD:0010302,Orphanet,139466,ORPHA:139466,15,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,[PMID:18179883],y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0000846,Adrenal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0002463,Language impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010304,Orphanet,251076,ORPHA:251076,18,HP:0100777,Exostoses,Occasional (29-5%),TAS,,,,,y,y +GARD:0010311,Orphanet,70592,ORPHA:70592,5,HP:0001875,Neutropenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010311,Orphanet,70592,ORPHA:70592,5,HP:0002718,Recurrent bacterial infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010311,Orphanet,70592,ORPHA:70592,5,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010311,Orphanet,70592,ORPHA:70592,5,HP:0005366,Recurrent streptococcus pneumoniae infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010311,Orphanet,70592,ORPHA:70592,5,HP:0007499,Recurrent staphylococcal infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0001436,Abnormality of the foot musculature,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0002058,Myopathic facies,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0003029,Enlargement of the ankles,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0003376,Steppage gait,Frequent (79-30%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0003484,Upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0003547,Shoulder girdle muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0003555,Muscle fiber splitting,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0003557,Increased variability in muscle fiber diameter,Very frequent (99-80%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0003687,Centrally nucleated skeletal muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0003724,Shoulder girdle muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0005162,Abnormal left ventricular function,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0005991,Limited neck flexion,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0006251,Limited wrist extension,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0006467,Limited shoulder movement,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0006510,Chronic pulmonary obstruction,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0008800,Limited hip movement,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0008956,Proximal lower limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0008963,Tibialis muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0009027,Foot dorsiflexor weakness,Very frequent (99-80%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0009072,Decreased Achilles reflex,Frequent (79-30%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0009129,Upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0010505,Limitation of movement at ankles,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0011711,Left anterior fascicular block,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0011808,Decreased patellar reflex,Frequent (79-30%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0030148,Heart murmur,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0030237,Hand muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0030664,Beevor's sign,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0031108,Triceps weakness,Occasional (29-5%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010313,Orphanet,437572,ORPHA:437572,46,HP:0100297,Increased endomysial connective tissue,Very frequent (99-80%),TAS,,,,"[PMID:1202162, PMID:7487558]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0000046,Small scrotum,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0000275,Narrow face,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0000544,External ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0002058,Myopathic facies,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0002795,Abnormal respiratory system physiology,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0003327,Axial muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0003547,Shoulder girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0003560,Muscular dystrophy,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0003798,Nemaline bodies,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0003803,Type 1 muscle fiber predominance,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0008850,Severe postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0009025,Increased connective tissue,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0009046,Difficulty running,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0010804,Tented upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0011399,Tibialis atrophy,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0011805,Abnormal skeletal muscle morphology,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0011807,Type 1 muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0012036,Sternocleidomastoid amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0031139,Frog-leg posture,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0031237,Internally nucleated skeletal muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0040191,Rectus femoris muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010316,Orphanet,98905,ORPHA:98905,44,HP:0100293,Muscle fiber hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:16380615, PMID:18253926, PMID:19734047, PMID:20839240, PMID:22407809, PMID:7299413, PMID:9932958]",y,y +GARD:0010319,Orphanet,2964,ORPHA:2964,3,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0010319,Orphanet,2964,ORPHA:2964,3,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010319,Orphanet,2964,ORPHA:2964,3,HP:0010807,Open bite,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010321,Orphanet,67046,ORPHA:67046,13,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:20855850],y,y +GARD:0010321,Orphanet,67046,ORPHA:67046,13,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:20855850],y,y +GARD:0010321,Orphanet,67046,ORPHA:67046,13,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:20855850],y,y +GARD:0010321,Orphanet,67046,ORPHA:67046,13,HP:0001259,Coma,Occasional (29-5%),TAS,,,,[PMID:20855850],y,y +GARD:0010321,Orphanet,67046,ORPHA:67046,13,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:20855850],y,y +GARD:0010321,Orphanet,67046,ORPHA:67046,13,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,[PMID:20855850],y,y +GARD:0010321,Orphanet,67046,ORPHA:67046,13,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,[PMID:20855850],y,y +GARD:0010321,Orphanet,67046,ORPHA:67046,13,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:20855850],y,y +GARD:0010321,Orphanet,67046,ORPHA:67046,13,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,[PMID:20855850],y,y +GARD:0010321,Orphanet,67046,ORPHA:67046,13,HP:0002073,Progressive cerebellar ataxia,Occasional (29-5%),TAS,,,,[PMID:20855850],y,y +GARD:0010321,Orphanet,67046,ORPHA:67046,13,HP:0002134,Abnormality of the basal ganglia,Occasional (29-5%),TAS,,,,[PMID:20855850],y,y +GARD:0010321,Orphanet,67046,ORPHA:67046,13,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,[PMID:20855850],y,y +GARD:0010321,Orphanet,67046,ORPHA:67046,13,HP:0003535,3-Methylglutaconic aciduria,Very frequent (99-80%),TAS,,,,[PMID:20855850],y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0001733,Pancreatitis,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0001947,Renal tubular acidosis,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0001992,Organic aciduria,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0002161,Hyperlysinemia,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0002415,Leukodystrophy,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0002448,Progressive encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0002470,Nonprogressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0002478,Progressive spastic quadriplegia,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0003206,Decreased activity of NADPH oxidase,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0003234,Decreased plasma carnitine,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0004897,Stress/infection-induced lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0010536,Central sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0010967,Abnormal circulating carnitine concentration,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0011951,Aspiration pneumonia,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0012547,Abnormal involuntary eye movements,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0012751,Abnormal basal ganglia MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010327,Orphanet,431361,ORPHA:431361,28,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,"[PMID:2332510, PMID:24847004]",y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000023,Inguinal hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000246,Sinusitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000294,Low anterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000389,Chronic otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000488,Retinopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0001646,Abnormal aortic valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0002104,Apnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0003416,Spinal canal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0005105,Abnormal nasal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0008155,Mucopolysacchariduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0009928,Thick nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0100261,Abnormal tendon morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0100625,Enlarged thorax,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0100765,Abnormality of the tonsils,Frequent (79-30%),TAS,,,,,y,y +GARD:0010335,Orphanet,579,ORPHA:579,57,HP:0100790,Hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0001890,Autoimmune hemolytic anemia,Occasional (29-5%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0002718,Recurrent bacterial infections,Frequent (79-30%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0002720,Decreased circulating IgA level,Very frequent (99-80%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0002743,Recurrent enteroviral infections,Frequent (79-30%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0002840,Lymphadenitis,Occasional (29-5%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0002841,Recurrent fungal infections,Frequent (79-30%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0002850,Decreased circulating total IgM,Very frequent (99-80%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0004315,Decreased circulating IgG level,Very frequent (99-80%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0004385,Protracted diarrhea,Frequent (79-30%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0004429,Recurrent viral infections,Very frequent (99-80%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0010975,Abnormal B cell count,Very frequent (99-80%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0011839,Abnormal T cell count,Very frequent (99-80%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0031381,Decreased lymphocyte proliferation in response to mitogen,Frequent (79-30%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0031402,Reduced antigen-specific T cell proliferation,Frequent (79-30%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0040089,Abnormal natural killer cell count,Occasional (29-5%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0045080,Decreased proportion of CD3-positive T cells,Frequent (79-30%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010339,Orphanet,331206,ORPHA:331206,29,HP:0200117,Recurrent upper and lower respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:11133745, PMID:16276422, PMID:19458910, PMID:24481607]",y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0001355,Megalencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0001653,Mitral regurgitation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0002126,Polymicrogyria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0005105,Abnormal nasal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0010341,Orphanet,83473,ORPHA:83473,16,HP:0100542,Abnormal localization of kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0001410,Decreased liver function,Occasional (29-5%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0002195,Dysgenesis of the cerebellar vermis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0003128,Lactic acidosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0003535,3-Methylglutaconic aciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010342,Orphanet,67048,ORPHA:67048,17,HP:0007730,Iris hypopigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0001370,Rheumatoid arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0001890,Autoimmune hemolytic anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0001973,Autoimmune thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0004332,Abnormal lymphocyte morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0005561,Abnormality of bone marrow cell morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010346,Orphanet,100026,ORPHA:100026,20,HP:0100648,Neoplasm of the tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0000643,Blepharospasm,Occasional (29-5%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0002080,Intention tremor,Very frequent (99-80%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0002172,Postural instability,Very frequent (99-80%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0002311,Incoordination,Very frequent (99-80%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0002317,Unsteady gait,Very frequent (99-80%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0007979,Gaze-evoked horizontal nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0010544,Vertical nystagmus,Frequent (79-30%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0030511,Bradyopsia,Very frequent (99-80%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010351,Orphanet,98758,ORPHA:98758,19,HP:0030842,Choking episodes,Frequent (79-30%),TAS,,,,"[PMID:12700909, PMID:20301319]",y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0005679,Dupuytren contracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0010472,Abnormal circulating porphyrin concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0012086,Abnormal urinary color,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0100021,Cerebral palsy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010353,Orphanet,738,ORPHA:738,23,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0000289,Broad philtrum,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0000338,Hypomimic face,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0000341,Narrow forehead,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0000446,Narrow nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0000960,Sacral dimple,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0001308,Tongue fasciculations,Occasional (29-5%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0005060,Limited elbow flexion/extension,Occasional (29-5%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0005879,Congenital finger flexion contractures,Occasional (29-5%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0007002,Motor axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0007269,Spinal muscular atrophy,Occasional (29-5%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0008366,Contractures involving the joints of the feet,Occasional (29-5%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0011081,Incisor macrodontia,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0030197,Fatigable weakness of skeletal muscles,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0030200,Fatiguable weakness of proximal limb muscles,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010358,Orphanet,166108,ORPHA:166108,33,HP:0040288,Nasogastric tube feeding,Frequent (79-30%),TAS,,,,"[PMID:18678320, PMID:27151206, PMID:30690205]",y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000239,Large fontanelles,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000526,Aniridia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0000647,Sclerocornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0001836,Camptodactyly of toe,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0002002,Deep philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010360,Orphanet,251038,ORPHA:251038,30,HP:0004422,Biparietal narrowing,Occasional (29-5%),TAS,,,,,y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0001045,Vitiligo,Very rare (<4-1%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0001047,Atopic dermatitis,Very rare (<4-1%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0001598,Concave nail,Frequent (79-30%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0001803,Nail pits,Frequent (79-30%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0001807,Ridged nail,Frequent (79-30%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0001808,Fragile nails,Frequent (79-30%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0001816,Thin nail,Frequent (79-30%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0001973,Autoimmune thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0002232,Patchy alopecia,Occasional (29-5%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0008064,Ichthyosis,Very rare (<4-1%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0008399,Circumungual hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0011034,Amyloidosis,Very rare (<4-1%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0012531,Pain,Excluded (0%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0100797,Toenail dysplasia,Occasional (29-5%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0100798,Fingernail dysplasia,Frequent (79-30%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010363,Orphanet,79153,ORPHA:79153,17,HP:0100803,Abnormality of the periungual region,Frequent (79-30%),TAS,,,,"[PMID:27843915, PMID:31923322]",y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0000338,Hypomimic face,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0000366,Abnormality of the nose,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0002329,Drowsiness,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0005968,Temperature instability,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0010553,Oculogyric crisis,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0100021,Cerebral palsy,Occasional (29-5%),TAS,,,,[PMID:26131547],y,y +GARD:0010365,Orphanet,70594,ORPHA:70594,26,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,[PMID:26131547],y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000014,Abnormality of the bladder,Occasional (29-5%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000036,Abnormal penis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000039,Epispadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000069,Abnormality of the ureter,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000502,Abnormal conjunctiva morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000598,Abnormality of the ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0000625,Eyelid coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0001140,Limbal dermoid,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0001331,Absent septum pellucidum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0001626,Abnormality of the cardiovascular system,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0002251,Aganglionic megacolon,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0008749,Laryngeal hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0012639,Abnormal nervous system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0010366,Orphanet,3339,ORPHA:3339,36,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0000153,Abnormality of the mouth,Very frequent (99-80%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0000221,Furrowed tongue,Frequent (79-30%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0000276,Long face,Occasional (29-5%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0000956,Acanthosis nigricans,Obligate (100%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0000966,Hypohidrosis,Obligate (100%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0000972,Palmoplantar hyperkeratosis,Frequent (79-30%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0001620,High pitched voice,Occasional (29-5%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0005338,Sparse lateral eyebrow,Occasional (29-5%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0007646,Absent lower eyelashes,Occasional (29-5%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0008070,Sparse hair,Obligate (100%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0008388,Abnormal toenail morphology,Occasional (29-5%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0010802,Perioral hyperpigmentation,Frequent (79-30%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0011367,Yellow nails,Occasional (29-5%),TAS,,,,[PMID:12457412],y,y +GARD:0010367,Orphanet,140936,ORPHA:140936,22,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,[PMID:12457412],y,y +GARD:0010372,Orphanet,103909,ORPHA:103909,7,HP:0000118,Phenotypic abnormality,Occasional (29-5%),TAS,,,,"[PMID:10522609, PMID:24443064, PMID:3227291, PMID:4737205]",y,y +GARD:0010372,Orphanet,103909,ORPHA:103909,7,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:10522609, PMID:24443064, PMID:3227291, PMID:4737205]",y,y +GARD:0010372,Orphanet,103909,ORPHA:103909,7,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:10522609, PMID:24443064, PMID:3227291, PMID:4737205]",y,y +GARD:0010372,Orphanet,103909,ORPHA:103909,7,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,"[PMID:10522609, PMID:24443064, PMID:3227291, PMID:4737205]",y,y +GARD:0010372,Orphanet,103909,ORPHA:103909,7,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:10522609, PMID:24443064, PMID:3227291, PMID:4737205]",y,y +GARD:0010372,Orphanet,103909,ORPHA:103909,7,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:10522609, PMID:24443064, PMID:3227291, PMID:4737205]",y,y +GARD:0010372,Orphanet,103909,ORPHA:103909,7,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:10522609, PMID:24443064, PMID:3227291, PMID:4737205]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000633,Decreased lacrimation,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000735,Impaired social interactions,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000739,Anxiety,Excluded (0%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000805,Enuresis,Occasional (29-5%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000824,Decreased response to growth hormone stimulation test,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000863,Central diabetes insipidus,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000870,Increased circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000961,Cyanosis,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0001959,Polydipsia,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002045,Hypothermia,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002099,Asthma,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002153,Hyperkalemia,Excluded (0%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002418,Abnormal midbrain morphology,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002579,Gastrointestinal dysmotility,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002591,Polyphagia,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002608,Celiac disease,Occasional (29-5%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002783,Recurrent lower respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002791,Hypoventilation,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002902,Hyponatremia,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0003005,Ganglioneuroma,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0003074,Hyperglycemia,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0003077,Hyperlipidemia,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0006543,Cardiorespiratory arrest,Occasional (29-5%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0006747,Ganglioneuroblastoma,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0007110,Central hypoventilation,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0007695,Abnormal pupillary light reflex,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0008213,Gonadotropin deficiency,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0011748,Adrenocorticotropic hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0011787,Central hypothyroidism,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0012332,Abnormal autonomic nervous system physiology,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0012412,Premature adrenarche,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0012704,Widened subarachnoid space,Very frequent (99-80%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0030050,Narcolepsy,Occasional (29-5%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010407,Orphanet,293987,ORPHA:293987,67,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:14320765, PMID:17606542, PMID:21691246, PMID:22715259, PMID:22935553, PMID:23940246, PMID:24914877, PMID:25746964, PMID:25781356, PMID:26352082]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0000105,Enlarged kidney,Occasional (29-5%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0000107,Renal cyst,Very frequent (99-80%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0001407,Hepatic cysts,Very frequent (99-80%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0001737,Pancreatic cysts,Occasional (29-5%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0002616,Aortic root aneurysm,Occasional (29-5%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0003259,Elevated circulating creatinine concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0003774,Stage 5 chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0004944,Dilatation of the cerebral artery,Occasional (29-5%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0006557,Polycystic liver disease,Occasional (29-5%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0011004,Abnormal systemic arterial morphology,Occasional (29-5%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0011760,Pituitary growth hormone cell adenoma,Very rare (<4-1%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0012207,Reduced sperm motility,Occasional (29-5%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0012213,Decreased glomerular filtration rate,Very frequent (99-80%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0012330,Pyelonephritis,Occasional (29-5%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0012591,Abnormal urinary electrolyte concentration,Frequent (79-30%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0012592,Albuminuria,Frequent (79-30%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010413,Orphanet,730,ORPHA:730,25,HP:0100702,Arachnoid cyst,Occasional (29-5%),TAS,,,,"[PMID:20301424, PMID:31740684, PMID:31967058]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0000799,Renal steatosis,Occasional (29-5%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0000991,Xanthomatosis,Occasional (29-5%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0001138,Optic neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0001645,Sudden cardiac death,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0001658,Myocardial infarction,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0001677,Coronary artery atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0001681,Angina pectoris,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0001920,Renal artery stenosis,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0003077,Hyperlipidemia,Obligate (100%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0003124,Hypercholesterolemia,Obligate (100%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0003141,Increased LDL cholesterol concentration,Obligate (100%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0004381,Supravalvular aortic stenosis,Occasional (29-5%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0004416,Precocious atherosclerosis,Very frequent (99-80%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0004950,Peripheral arterial stenosis,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0004963,Calcification of the aorta,Occasional (29-5%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0005162,Abnormal left ventricular function,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0005177,Premature arteriosclerosis,Very frequent (99-80%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0005181,Premature coronary artery atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0006693,Myocardial steatosis,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0007201,Cerebral artery atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0010874,Tendon xanthomatosis,Occasional (29-5%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0012373,Abnormal eye physiology,Very rare (<4-1%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0012397,Aortic atherosclerotic lesion,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0012638,Abnormal nervous system physiology,Very rare (<4-1%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0030882,Coronary artery aneurysm,Very rare (<4-1%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:0100261,Abnormal tendon morphology,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010416,Orphanet,391665,ORPHA:391665,33,HP:3000062,Abnormal internal carotid artery morphology,Frequent (79-30%),TAS,,,,"[PMID:12750110, PMID:19026292, PMID:23759795, PMID:25053660, PMID:27462068, PMID:4363406, PMID:6292899]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0000029,Testicular atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0000044,Hypogonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0000141,Amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0000741,Apathy,Very rare (<4-1%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0000789,Infertility,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0001386,Joint swelling,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0001402,Hepatocellular carcinoma,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0003040,Arthropathy,Frequent (79-30%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0003074,Hyperglycemia,Frequent (79-30%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0003199,Decreased muscle mass,Frequent (79-30%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0003281,Increased circulating ferritin concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0005198,Stiff interphalangeal joints,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0007574,Generalized bronze hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0011031,Abnormality of iron homeostasis,Very frequent (99-80%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0011911,Abnormality of metacarpophalangeal joint,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0012463,Elevated transferrin saturation,Very frequent (99-80%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0030153,Cholangiocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0030848,Elevated jugular venous pressure,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0040171,Decreased serum testosterone concentration,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0100626,Chronic hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010417,Orphanet,465508,ORPHA:465508,43,HP:0100639,Erectile dysfunction,Occasional (29-5%),TAS,,,,"[PMID:20301613, PMID:25454304]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0002069,Bilateral tonic-clonic seizure,Very rare (<4-1%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0002293,Alopecia of scalp,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0002401,Stroke-like episode,Frequent (79-30%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0002497,Spastic ataxia,Frequent (79-30%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0002506,Diffuse cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0002634,Arteriosclerosis,Frequent (79-30%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0002751,Kyphoscoliosis,Very rare (<4-1%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0003418,Back pain,Frequent (79-30%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0003657,Granular osmiophilic deposits (GROD) in cells,Excluded (0%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0007024,Pseudobulbar paralysis,Frequent (79-30%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0008480,Cervical spondylosis,Frequent (79-30%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0012514,Lower limb pain,Frequent (79-30%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0012671,Abulia,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0012672,Akinetic mutism,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0030833,Neck pain,Occasional (29-5%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0030892,Deep cerebral white matter hyperintensities,Frequent (79-30%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0040161,Localized osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010424,Orphanet,199354,ORPHA:199354,32,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20437615, PMID:29322992]",y,y +GARD:0010427,Orphanet,181,ORPHA:181,14,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010427,Orphanet,181,ORPHA:181,14,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010427,Orphanet,181,ORPHA:181,14,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010427,Orphanet,181,ORPHA:181,14,HP:0000691,Microdontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010427,Orphanet,181,ORPHA:181,14,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0010427,Orphanet,181,ORPHA:181,14,HP:0000830,Anterior hypopituitarism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010427,Orphanet,181,ORPHA:181,14,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010427,Orphanet,181,ORPHA:181,14,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0010427,Orphanet,181,ORPHA:181,14,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010427,Orphanet,181,ORPHA:181,14,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010427,Orphanet,181,ORPHA:181,14,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0010427,Orphanet,181,ORPHA:181,14,HP:0010803,Everted upper lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010427,Orphanet,181,ORPHA:181,14,HP:0100651,Type I diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010427,Orphanet,181,ORPHA:181,14,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010428,Orphanet,441,ORPHA:441,10,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,[PMID:15965200],y,y +GARD:0010428,Orphanet,441,ORPHA:441,10,HP:0000802,Impotence,Occasional (29-5%),TAS,,,,[PMID:15965200],y,y +GARD:0010428,Orphanet,441,ORPHA:441,10,HP:0000970,Anhidrosis,Very frequent (99-80%),TAS,,,,[PMID:15965200],y,y +GARD:0010428,Orphanet,441,ORPHA:441,10,HP:0001278,Orthostatic hypotension,Very frequent (99-80%),TAS,,,,[PMID:15965200],y,y +GARD:0010428,Orphanet,441,ORPHA:441,10,HP:0001279,Syncope,Frequent (79-30%),TAS,,,,[PMID:15965200],y,y +GARD:0010428,Orphanet,441,ORPHA:441,10,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,[PMID:15965200],y,y +GARD:0010428,Orphanet,441,ORPHA:441,10,HP:0012099,Abnormality of circulating catecholamine level,Very frequent (99-80%),TAS,,,,[PMID:15965200],y,y +GARD:0010428,Orphanet,441,ORPHA:441,10,HP:0012332,Abnormal autonomic nervous system physiology,Very frequent (99-80%),TAS,,,,[PMID:15965200],y,y +GARD:0010428,Orphanet,441,ORPHA:441,10,HP:0025142,Constitutional symptom,Very frequent (99-80%),TAS,,,,[PMID:15965200],y,y +GARD:0010428,Orphanet,441,ORPHA:441,10,HP:0100518,Dysuria,Frequent (79-30%),TAS,,,,[PMID:15965200],y,y +GARD:0010429,Orphanet,93304,ORPHA:93304,6,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010429,Orphanet,93304,ORPHA:93304,6,HP:0000944,Abnormality of the metaphysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010429,Orphanet,93304,ORPHA:93304,6,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010429,Orphanet,93304,ORPHA:93304,6,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010429,Orphanet,93304,ORPHA:93304,6,HP:0004570,Increased vertebral height,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010429,Orphanet,93304,ORPHA:93304,6,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0000466,Limited neck range of motion,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0001327,Photosensitive myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0002283,Global brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0002311,Incoordination,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0002345,Action tremor,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0002349,Focal aware seizure,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0002384,Focal impaired awareness seizure,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0002396,Cogwheel rigidity,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0003066,Limited knee extension,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0006813,Focal hemiclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0007207,Photosensitive tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0007240,Progressive gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0007270,Atypical absence seizure,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0007359,Focal-onset seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0008770,Obsessive-compulsive trait,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0010818,Generalized tonic seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0010841,Multifocal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0011169,Generalized clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0011172,Complex febrile seizure,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0011182,Interictal epileptiform activity,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0011185,EEG with focal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0011198,EEG with generalized epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0011468,Facial tics,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0012847,Epilepsia partialis continua,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0025101,Dysgenesis of the hippocampus,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0031475,Status epilepticus without prominent motor symptoms,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0100694,Tibial torsion,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010430,Orphanet,33069,ORPHA:33069,46,HP:0200048,Cyanotic episode,Occasional (29-5%),TAS,,,,"[PMID:20301494, PMID:27264139]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0000056,Abnormality of the clitoris,Frequent (79-30%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0001009,Telangiectasia,Frequent (79-30%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0001394,Cirrhosis,Very frequent (99-80%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0001433,Hepatosplenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0001789,Hydrops fetalis,Frequent (79-30%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0002795,Abnormal respiratory system physiology,Occasional (29-5%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0010903,Abnormal circulating glutamine concentration,Very frequent (99-80%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0012202,Increased serum bile acid concentration,Very frequent (99-80%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0100678,Premature skin wrinkling,Frequent (79-30%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010445,Orphanet,101028,ORPHA:101028,18,HP:0200128,Biventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:11283793, PMID:23315216]",y,y +GARD:0010453,Orphanet,178509,ORPHA:178509,11,HP:0000716,Depression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010453,Orphanet,178509,ORPHA:178509,11,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010453,Orphanet,178509,ORPHA:178509,11,HP:0000741,Apathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010453,Orphanet,178509,ORPHA:178509,11,HP:0000751,Personality changes,Occasional (29-5%),TAS,,,,,y,y +GARD:0010453,Orphanet,178509,ORPHA:178509,11,HP:0001300,Parkinsonism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010453,Orphanet,178509,ORPHA:178509,11,HP:0001337,Tremor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010453,Orphanet,178509,ORPHA:178509,11,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010453,Orphanet,178509,ORPHA:178509,11,HP:0002071,Abnormality of extrapyramidal motor function,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010453,Orphanet,178509,ORPHA:178509,11,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010453,Orphanet,178509,ORPHA:178509,11,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,,y,y +GARD:0010453,Orphanet,178509,ORPHA:178509,11,HP:0007110,Central hypoventilation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0000124,Renal tubular dysfunction,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0000488,Retinopathy,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0000857,Neonatal insulin-dependent diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0002186,Apraxia,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0002594,Pancreatic hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0002804,Arthrogryposis multiplex congenita,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0002919,Ketonuria,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0003074,Hyperglycemia,Very frequent (99-80%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0003076,Glycosuria,Very frequent (99-80%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0005487,Prominent metopic ridge,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0005750,Contractures of the joints of the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0006274,Reduced pancreatic beta cells,Very frequent (99-80%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0010935,Abnormality of the upper urinary tract,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0011106,Hypovolemia,Very frequent (99-80%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0012594,Moderate albuminuria,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010457,Orphanet,99885,ORPHA:99885,35,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16885549, PMID:17349054, PMID:20301706, PMID:20938745, PMID:26231457, PMID:7637748]",y,y +GARD:0010460,Orphanet,438274,ORPHA:438274,10,HP:0000819,Diabetes mellitus,Excluded (0%),TAS,,,,[PMID:25914784],y,y +GARD:0010460,Orphanet,438274,ORPHA:438274,10,HP:0001081,Cholelithiasis,Frequent (79-30%),TAS,,,,[PMID:25914784],y,y +GARD:0010460,Orphanet,438274,ORPHA:438274,10,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,[PMID:25914784],y,y +GARD:0010460,Orphanet,438274,ORPHA:438274,10,HP:0002044,Zollinger-Ellison syndrome,Excluded (0%),TAS,,,,[PMID:25914784],y,y +GARD:0010460,Orphanet,438274,ORPHA:438274,10,HP:0002894,Neoplasm of the pancreas,Frequent (79-30%),TAS,,,,[PMID:25914784],y,y +GARD:0010460,Orphanet,438274,ORPHA:438274,10,HP:0010280,Stomatitis,Excluded (0%),TAS,,,,[PMID:25914784],y,y +GARD:0010460,Orphanet,438274,ORPHA:438274,10,HP:0012440,Abnormal biliary tract morphology,Frequent (79-30%),TAS,,,,[PMID:25914784],y,y +GARD:0010460,Orphanet,438274,ORPHA:438274,10,HP:0030404,Glucagonoma,Frequent (79-30%),TAS,,,,[PMID:25914784],y,y +GARD:0010460,Orphanet,438274,ORPHA:438274,10,HP:0030688,Increased glucagon level,Obligate (100%),TAS,,,,[PMID:25914784],y,y +GARD:0010460,Orphanet,438274,ORPHA:438274,10,HP:0031181,Necrolytic migratory erythema,Excluded (0%),TAS,,,,[PMID:25914784],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0000573,Retinal hemorrhage,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0000759,Abnormal peripheral nervous system morphology,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0001342,Cerebral hemorrhage,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0001541,Ascites,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0001639,Hypertrophic cardiomyopathy,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0002011,Morphological central nervous system abnormality,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0002088,Abnormal lung morphology,Frequent (79-30%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0002134,Abnormality of the basal ganglia,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0002170,Intracranial hemorrhage,Frequent (79-30%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0002239,Gastrointestinal hemorrhage,Very frequent (99-80%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0002248,Hematemesis,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0002249,Melena,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0002514,Cerebral calcification,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0002573,Hematochezia,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0002904,Hyperbilirubinemia,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0003273,Hip contracture,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0003304,Spondylolysis,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0007902,Vitreous hemorrhage,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0009139,Osteolysis involving bones of the lower limbs,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0009830,Peripheral neuropathy,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0010536,Central sleep apnea,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0011035,Abnormal renal cortex morphology,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0011121,Abnormality of skin morphology,Very frequent (99-80%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0011354,Generalized abnormality of skin,Frequent (79-30%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0012718,Morphological abnormality of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0012735,Cough,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0025015,Abnormal vascular morphology,Very frequent (99-80%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0025064,Thalamic hemorrhage,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0025085,Bloody diarrhea,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0025420,Diffuse alveolar hemorrhage,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0025474,Erythematous plaque,Frequent (79-30%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0030350,Erythematous papule,Frequent (79-30%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0031368,Intestinal perforation,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0031938,Abnormal conus terminalis morphology,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0040242,Muscle hemorrhage,Very rare (<4-1%),TAS,,,,[PMID:33641614],y,y +GARD:0010467,Orphanet,464321,ORPHA:464321,46,HP:0045039,Osteolysis involving bones of the upper limbs,Occasional (29-5%),TAS,,,,[PMID:33641614],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0000643,Blepharospasm,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0002356,Writer's cramp,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0002529,Neuronal loss in central nervous system,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0007058,Generalized cerebral atrophy/hypoplasia,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0007366,Atrophy/Degeneration affecting the brainstem,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010469,Orphanet,98759,ORPHA:98759,19,HP:0012082,Cerebellar Purkinje layer atrophy,Frequent (79-30%),TAS,,,,[PMID:20301611],y,y +GARD:0010472,Orphanet,79314,ORPHA:79314,12,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010472,Orphanet,79314,ORPHA:79314,12,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0010472,Orphanet,79314,ORPHA:79314,12,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010472,Orphanet,79314,ORPHA:79314,12,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010472,Orphanet,79314,ORPHA:79314,12,HP:0001285,Spastic tetraparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010472,Orphanet,79314,ORPHA:79314,12,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,,y,y +GARD:0010472,Orphanet,79314,ORPHA:79314,12,HP:0002357,Dysphasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010472,Orphanet,79314,ORPHA:79314,12,HP:0002383,Infectious encephalitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010472,Orphanet,79314,ORPHA:79314,12,HP:0004375,Neoplasm of the nervous system,Frequent (79-30%),TAS,,,,,y,y +GARD:0010472,Orphanet,79314,ORPHA:79314,12,HP:0006887,"Intellectual disability, progressive",Very frequent (99-80%),TAS,,,,,y,y +GARD:0010472,Orphanet,79314,ORPHA:79314,12,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0010472,Orphanet,79314,ORPHA:79314,12,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0000012,Urinary urgency,Occasional (29-5%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0000640,Gaze-evoked nystagmus,Frequent (79-30%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0002141,Gait imbalance,Frequent (79-30%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0002168,Scanning speech,Frequent (79-30%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0007772,Impaired smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0011153,Focal motor seizure,Occasional (29-5%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0011198,EEG with generalized epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0030186,Kinetic tremor,Frequent (79-30%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010474,Orphanet,98761,ORPHA:98761,30,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:11506407, PMID:12164725, PMID:17620556, PMID:29624773]",y,y +GARD:0010475,Orphanet,98767,ORPHA:98767,11,HP:0000666,Horizontal nystagmus,Very frequent (99-80%),TAS,,,,[PMID:20301723],y,y +GARD:0010475,Orphanet,98767,ORPHA:98767,11,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:20301723],y,y +GARD:0010475,Orphanet,98767,ORPHA:98767,11,HP:0001332,Dystonia,Very rare (<4-1%),TAS,,,,[PMID:20301723],y,y +GARD:0010475,Orphanet,98767,ORPHA:98767,11,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,[PMID:20301723],y,y +GARD:0010475,Orphanet,98767,ORPHA:98767,11,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,[PMID:20301723],y,y +GARD:0010475,Orphanet,98767,ORPHA:98767,11,HP:0002141,Gait imbalance,Very frequent (99-80%),TAS,,,,[PMID:20301723],y,y +GARD:0010475,Orphanet,98767,ORPHA:98767,11,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,[PMID:20301723],y,y +GARD:0010475,Orphanet,98767,ORPHA:98767,11,HP:0007256,Abnormal pyramidal sign,Very rare (<4-1%),TAS,,,,[PMID:20301723],y,y +GARD:0010475,Orphanet,98767,ORPHA:98767,11,HP:0008003,Jerky ocular pursuit movements,Very frequent (99-80%),TAS,,,,[PMID:20301723],y,y +GARD:0010475,Orphanet,98767,ORPHA:98767,11,HP:0009830,Peripheral neuropathy,Very rare (<4-1%),TAS,,,,[PMID:20301723],y,y +GARD:0010475,Orphanet,98767,ORPHA:98767,11,HP:0010544,Vertical nystagmus,Very frequent (99-80%),TAS,,,,[PMID:20301723],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0002067,Bradykinesia,Occasional (29-5%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0002174,Postural tremor,Occasional (29-5%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0002317,Unsteady gait,Occasional (29-5%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0002345,Action tremor,Frequent (79-30%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0002375,Hypokinesia,Occasional (29-5%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0002406,Limb dysmetria,Frequent (79-30%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0007141,Sensorimotor neuropathy,Occasional (29-5%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0030188,Tremor by anatomical site,Frequent (79-30%),TAS,,,,[PMID:20301381],y,y +GARD:0010476,Orphanet,98762,ORPHA:98762,21,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,[PMID:20301381],y,y +GARD:0010477,Orphanet,98769,ORPHA:98769,8,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:11723290, PMID:14981189]",y,y +GARD:0010477,Orphanet,98769,ORPHA:98769,8,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:11723290, PMID:14981189]",y,y +GARD:0010477,Orphanet,98769,ORPHA:98769,8,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:11723290, PMID:14981189]",y,y +GARD:0010477,Orphanet,98769,ORPHA:98769,8,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:11723290, PMID:14981189]",y,y +GARD:0010477,Orphanet,98769,ORPHA:98769,8,HP:0002345,Action tremor,Frequent (79-30%),TAS,,,,"[PMID:11723290, PMID:14981189]",y,y +GARD:0010477,Orphanet,98769,ORPHA:98769,8,HP:0002346,Head tremor,Frequent (79-30%),TAS,,,,"[PMID:11723290, PMID:14981189]",y,y +GARD:0010477,Orphanet,98769,ORPHA:98769,8,HP:0007351,Upper limb postural tremor,Frequent (79-30%),TAS,,,,"[PMID:11723290, PMID:14981189]",y,y +GARD:0010477,Orphanet,98769,ORPHA:98769,8,HP:0030188,Tremor by anatomical site,Frequent (79-30%),TAS,,,,"[PMID:11723290, PMID:14981189]",y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0000570,Abnormal saccadic eye movements,Frequent (79-30%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0001310,Dysmetria,Very frequent (99-80%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0002080,Intention tremor,Very frequent (99-80%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0002194,Delayed gross motor development,Very frequent (99-80%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0010862,Delayed fine motor development,Very frequent (99-80%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0012434,Delayed social development,Frequent (79-30%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0025405,Visual fixation instability,Occasional (29-5%),TAS,,,,[PMID:28659154],y,y +GARD:0010480,Orphanet,208513,ORPHA:208513,20,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,[PMID:28659154],y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0000338,Hypomimic face,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0001300,Parkinsonism,Very frequent (99-80%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0002310,Orofacial dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0002375,Hypokinesia,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0004354,Abnormal circulating carboxylic acid concentration,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0010553,Oculogyric crisis,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010484,Orphanet,238455,ORPHA:238455,20,HP:0100021,Cerebral palsy,Frequent (79-30%),TAS,,,,"[PMID:19478460, PMID:22030388]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0000708,Behavioral abnormality,Very rare (<4-1%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0000863,Central diabetes insipidus,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0000870,Increased circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0001085,Papilledema,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0001117,Sudden loss of visual acuity,Very rare (<4-1%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0001262,Excessive daytime somnolence,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0001263,Global developmental delay,Very rare (<4-1%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0001658,Myocardial infarction,Very rare (<4-1%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0002321,Vertigo,Very rare (<4-1%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0002591,Polyphagia,Occasional (29-5%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0002637,Cerebral ischemia,Occasional (29-5%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0002719,Recurrent infections,Very rare (<4-1%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0003508,Proportionate short stature,Occasional (29-5%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0007924,Slow decrease in visual acuity,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0007987,Progressive visual field defects,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0008897,Postnatal growth retardation,Very rare (<4-1%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0010576,Intracranial cystic lesion,Very frequent (99-80%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0010939,Abnormal nasal bone morphology,Very rare (<4-1%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0011734,Central adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0011750,Neoplasm of the anterior pituitary,Very frequent (99-80%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0012286,Abnormal hypothalamus morphology,Obligate (100%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0012505,Enlarged pituitary gland,Very frequent (99-80%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0030521,Bitemporal hemianopia,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0030588,Abnormal visual field test,Frequent (79-30%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0040075,Hypopituitarism,Very frequent (99-80%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010486,Orphanet,54595,ORPHA:54595,46,HP:0430000,Abnormal frontal bone morphology,Very rare (<4-1%),TAS,,,,"[PMID:10599681, PMID:1078580, PMID:12050243, PMID:12134898, PMID:12134929, PMID:1242169, PMID:12466115, PMID:12495299, PMID:12659393, PMID:15269087, PMID:15845929, PMID:16206977, PMID:16543382, PMID:17469176, PMID:17639891, PMID:17941498, PMID:18154027, PMID:18252012, PMID:19569961, PMID:20332250, PMID:21255479, PMID:21508127, PMID:2200325, PMID:221807, PMID:22319039, PMID:22794322, PMID:22969141, PMID:23533238, PMID:23633208, PMID:23771923, PMID:2392228, PMID:24413733, PMID:24507865, PMID:24571758, PMID:25077898, PMID:25370812, PMID:25375987, PMID:25434950, PMID:25884258, PMID:26498373, PMID:26563980, PMID:27258775, PMID:28073908, PMID:2823728, PMID:2894566, PMID:3300946, PMID:4103497, PMID:4213157, PMID:4308176, PMID:4414783, PMID:4542350, PMID:5013542, PMID:5296899, PMID:5553578, PMID:5676653, PMID:581156, PMID:5842310, PMID:5949228, PMID:6293388, PMID:6854390, PMID:7277671, PMID:7568823, PMID:7616262, PMID:776317, PMID:7773950, PMID:7852493, PMID:8090885, PMID:8869189, PMID:953588]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0001298,Encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0001788,Premature rupture of membranes,Occasional (29-5%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0002107,Pneumothorax,Occasional (29-5%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0005828,Transient pulmonary infiltrates,Frequent (79-30%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0008071,Maternal hypertension,Occasional (29-5%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0010444,Pulmonary insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0011410,Caesarian section,Frequent (79-30%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0012418,Hypoxemia,Occasional (29-5%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0012420,Meconium stained amniotic fluid,Occasional (29-5%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0012768,Neonatal asphyxia,Occasional (29-5%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0025116,Fetal distress,Frequent (79-30%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0025421,Pneumomediastinum,Occasional (29-5%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0030828,Wheezing,Occasional (29-5%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0031169,Postterm pregnancy,Frequent (79-30%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0031860,Abnormal heart rate variability,Frequent (79-30%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0031983,Abnormal pulmonary thoracic imaging finding,Frequent (79-30%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010494,Orphanet,70588,ORPHA:70588,22,HP:0100750,Atelectasis,Occasional (29-5%),TAS,,,,"[PMID:25274969, PMID:30058634, PMID:31295648, PMID:31695993, PMID:31894896]",y,y +GARD:0010502,Orphanet,357043,ORPHA:357043,8,HP:0001258,Spastic paraplegia,Occasional (29-5%),TAS,,,,[PMID:15106121],y,y +GARD:0010502,Orphanet,357043,ORPHA:357043,8,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,[PMID:15106121],y,y +GARD:0010502,Orphanet,357043,ORPHA:357043,8,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,[PMID:15106121],y,y +GARD:0010502,Orphanet,357043,ORPHA:357043,8,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,[PMID:15106121],y,y +GARD:0010502,Orphanet,357043,ORPHA:357043,8,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:15106121],y,y +GARD:0010502,Orphanet,357043,ORPHA:357043,8,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,[PMID:15106121],y,y +GARD:0010502,Orphanet,357043,ORPHA:357043,8,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:15106121],y,y +GARD:0010502,Orphanet,357043,ORPHA:357043,8,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,[PMID:15106121],y,y +GARD:0010504,Orphanet,63260,ORPHA:63260,9,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,[PMID:21799625],y,y +GARD:0010504,Orphanet,63260,ORPHA:63260,9,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,[PMID:21799625],y,y +GARD:0010504,Orphanet,63260,ORPHA:63260,9,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,[PMID:21799625],y,y +GARD:0010504,Orphanet,63260,ORPHA:63260,9,HP:0002323,Anencephaly,Very frequent (99-80%),TAS,,,,[PMID:21799625],y,y +GARD:0010504,Orphanet,63260,ORPHA:63260,9,HP:0002475,Myelomeningocele,Very frequent (99-80%),TAS,,,,[PMID:21799625],y,y +GARD:0010504,Orphanet,63260,ORPHA:63260,9,HP:0005857,Cervical spina bifida,Very frequent (99-80%),TAS,,,,[PMID:21799625],y,y +GARD:0010504,Orphanet,63260,ORPHA:63260,9,HP:0010301,Spinal dysraphism,Very frequent (99-80%),TAS,,,,[PMID:21799625],y,y +GARD:0010504,Orphanet,63260,ORPHA:63260,9,HP:0010309,Bifid sternum,Occasional (29-5%),TAS,,,,[PMID:21799625],y,y +GARD:0010504,Orphanet,63260,ORPHA:63260,9,HP:0010497,Sirenomelia,Occasional (29-5%),TAS,,,,[PMID:21799625],y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0000078,Abnormality of the genital system,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0000476,Cystic hygroma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0001339,Lissencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0001360,Holoprosencephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0001543,Gastroschisis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0001838,Rocker bottom foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0002247,Duodenal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0002323,Anencephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0002414,Spina bifida,Frequent (79-30%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0008465,Absent vertebra,Frequent (79-30%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0009939,Mandibular aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0010301,Spinal dysraphism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0012294,Abnormal occipital bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010506,Orphanet,63259,ORPHA:63259,31,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0000127,Renal salt wasting,Very frequent (99-80%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0000325,Triangular face,Very rare (<4-1%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0000411,Protruding ear,Very rare (<4-1%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0000822,Hypertension,Excluded (0%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0000841,Hyperactive renin-angiotensin system,Very frequent (99-80%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0000848,Increased circulating renin level,Very frequent (99-80%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0000859,Hyperaldosteronism,Very frequent (99-80%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0001525,Severe failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0001960,Hypokalemic metabolic alkalosis,Very frequent (99-80%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0002150,Hypercalciuria,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0002917,Hypomagnesemia,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0003081,Increased urinary potassium,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0003113,Hypochloremia,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0003527,Hyperprostaglandinuria,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0004727,Impaired renal concentrating ability,Very frequent (99-80%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0008619,Bilateral sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0025335,Delayed ability to stand,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010508,Orphanet,89938,ORPHA:89938,36,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:11433084, PMID:12574213, PMID:16572343, PMID:18310267, PMID:31667618]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0000855,Insulin resistance,Occasional (29-5%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0002907,Microscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0005328,Progeroid facial appearance,Frequent (79-30%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0005421,Decreased serum complement C3,Frequent (79-30%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0100820,Glomerulopathy,Occasional (29-5%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010509,Orphanet,79087,ORPHA:79087,17,HP:0100827,Lymphocytosis,Frequent (79-30%),TAS,,,,"[PMID:1246331, PMID:16826530, PMID:18854390, PMID:22768673, PMID:24788242]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0002073,Progressive cerebellar ataxia,Occasional (29-5%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0006855,Cerebellar vermis atrophy,Occasional (29-5%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0012547,Abnormal involuntary eye movements,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0030190,Oral motor hypotonia,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010510,Orphanet,248111,ORPHA:248111,24,HP:0200147,Neuronal loss in basal ganglia,Frequent (79-30%),TAS,,,,"[PMID:11553930, PMID:12791042, PMID:17562929]",y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0001388,Joint laxity,Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0001552,Barrel-shaped chest,Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0002795,Abnormal respiratory system physiology,Frequent (79-30%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0002938,Lumbar hyperlordosis,Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0004482,Relative macrocephaly,Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0005285,Absent nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010513,Orphanet,171866,ORPHA:171866,17,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,[PMID:19110214],y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0000127,Renal salt wasting,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0000805,Enuresis,Frequent (79-30%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0000848,Increased circulating renin level,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0000859,Hyperaldosteronism,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0001959,Polydipsia,Frequent (79-30%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0002197,Generalized-onset seizure,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0002345,Action tremor,Frequent (79-30%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0002917,Hypomagnesemia,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0005567,Renal magnesium wasting,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0007182,Peripheral hypomyelination,Occasional (29-5%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0007340,Lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0012591,Abnormal urinary electrolyte concentration,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0012606,Renal sodium wasting,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0030083,Salt craving,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010514,Orphanet,199343,ORPHA:199343,26,HP:0200114,Metabolic alkalosis,Very frequent (99-80%),TAS,,,,"[PMID:19289823, PMID:19420365, PMID:20301317, PMID:21849804]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0000973,Cutis laxa,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0001601,Laryngomalacia,Frequent (79-30%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0001631,Atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0001636,Tetralogy of Fallot,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0001640,Cardiomegaly,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0001686,Loss of voice,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0001750,Single ventricle,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002032,Esophageal atresia,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002089,Pulmonary hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002092,Pulmonary arterial hypertension,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002097,Emphysema,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002104,Apnea,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002107,Pneumothorax,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002110,Bronchiectasis,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002643,Neonatal respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002779,Tracheomalacia,Very frequent (99-80%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002780,Bronchomalacia,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002786,Tracheobronchomalacia,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0004468,Anomalous tracheal cartilage,Very frequent (99-80%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0010307,Stridor,Frequent (79-30%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0010773,Partial anomalous pulmonary venous return,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0011590,Double aortic arch,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0012020,Right aortic arch,Very rare (<4-1%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0030828,Wheezing,Frequent (79-30%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0030864,Intercostal retractions,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0030966,Abnormal pulmonary artery morphology,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0031245,Productive cough,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0032177,Parenchymal consolidation,Occasional (29-5%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010515,Orphanet,95430,ORPHA:95430,45,HP:0032355,Decreased peak expiratory flow,Frequent (79-30%),TAS,,,,"[PMID:30426955, PMID:31985984]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0000180,Lobulated tongue,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0000577,Exotropia,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0000879,Short sternum,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0001305,Dandy-Walker malformation,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0001626,Abnormality of the cardiovascular system,Excluded (0%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0001830,Postaxial foot polydactyly,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0002942,Thoracic kyphosis,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0003774,Stage 5 chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0010719,Abnormality of hair texture,Excluded (0%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0010729,Cherry red spot of the macula,Occasional (29-5%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0011168,Focal seizure with eyelid myoclonia,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0011802,Hamartoma of tongue,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0011842,Abnormal skeletal morphology,Excluded (0%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0012044,Seesaw nystagmus,Occasional (29-5%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0012489,Suprasellar arachnoid cyst,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0012547,Abnormal involuntary eye movements,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010518,Orphanet,2752,ORPHA:2752,29,HP:0040079,Irregular dentition,Frequent (79-30%),TAS,,,,"[PMID:25869670, PMID:27141300, PMID:5004413, PMID:8230165]",y,y +GARD:0010522,Orphanet,330054,ORPHA:330054,13,HP:0000408,Progressive sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:19409522],y,y +GARD:0010522,Orphanet,330054,ORPHA:330054,13,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:19409522],y,y +GARD:0010522,Orphanet,330054,ORPHA:330054,13,HP:0000519,Developmental cataract,Frequent (79-30%),TAS,,,,[PMID:19409522],y,y +GARD:0010522,Orphanet,330054,ORPHA:330054,13,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:19409522],y,y +GARD:0010522,Orphanet,330054,ORPHA:330054,13,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:19409522],y,y +GARD:0010522,Orphanet,330054,ORPHA:330054,13,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,[PMID:19409522],y,y +GARD:0010522,Orphanet,330054,ORPHA:330054,13,HP:0001324,Muscle weakness,Excluded (0%),TAS,,,,[PMID:19409522],y,y +GARD:0010522,Orphanet,330054,ORPHA:330054,13,HP:0001583,Rotary nystagmus,Frequent (79-30%),TAS,,,,[PMID:19409522],y,y +GARD:0010522,Orphanet,330054,ORPHA:330054,13,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:19409522],y,y +GARD:0010522,Orphanet,330054,ORPHA:330054,13,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,[PMID:19409522],y,y +GARD:0010522,Orphanet,330054,ORPHA:330054,13,HP:0009062,Infantile axial hypotonia,Frequent (79-30%),TAS,,,,[PMID:19409522],y,y +GARD:0010522,Orphanet,330054,ORPHA:330054,13,HP:0012343,Decreased circulating ferritin concentration,Frequent (79-30%),TAS,,,,[PMID:19409522],y,y +GARD:0010522,Orphanet,330054,ORPHA:330054,13,HP:0030089,Abnormal muscle fiber protein expression,Frequent (79-30%),TAS,,,,[PMID:19409522],y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0001631,Atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0001636,Tetralogy of Fallot,Very rare (<4-1%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0001680,Coarctation of aorta,Very rare (<4-1%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0002198,Dilated fourth ventricle,Very rare (<4-1%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0002370,Poor coordination,Occasional (29-5%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0005160,Total anomalous pulmonary venous return,Very rare (<4-1%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0006891,Thick cerebral cortex,Frequent (79-30%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0010522,Dyslexia,Frequent (79-30%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010525,Orphanet,261183,ORPHA:261183,31,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:25689425, PMID:28387067, PMID:32384786]",y,y +GARD:0010528,Orphanet,2025,ORPHA:2025,14,HP:0000169,Gingival fibromatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010528,Orphanet,2025,ORPHA:2025,14,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010528,Orphanet,2025,ORPHA:2025,14,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010528,Orphanet,2025,ORPHA:2025,14,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0010528,Orphanet,2025,ORPHA:2025,14,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010528,Orphanet,2025,ORPHA:2025,14,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010528,Orphanet,2025,ORPHA:2025,14,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010528,Orphanet,2025,ORPHA:2025,14,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010528,Orphanet,2025,ORPHA:2025,14,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010528,Orphanet,2025,ORPHA:2025,14,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010528,Orphanet,2025,ORPHA:2025,14,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010528,Orphanet,2025,ORPHA:2025,14,HP:0002263,Exaggerated cupid's bow,Frequent (79-30%),TAS,,,,,y,y +GARD:0010528,Orphanet,2025,ORPHA:2025,14,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010528,Orphanet,2025,ORPHA:2025,14,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0000643,Blepharospasm,Frequent (79-30%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0001304,Torsion dystonia,Frequent (79-30%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0002322,Resting tremor,Frequent (79-30%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0002362,Shuffling gait,Frequent (79-30%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0002378,Hand tremor,Frequent (79-30%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0002451,Limb dystonia,Occasional (29-5%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0002548,Parkinsonism with favorable response to dopaminergic medication,Frequent (79-30%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0004373,Focal dystonia,Frequent (79-30%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0006511,Laryngeal stridor,Occasional (29-5%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0007158,Progressive extrapyramidal muscular rigidity,Frequent (79-30%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0010808,Protruding tongue,Occasional (29-5%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010533,Orphanet,53351,ORPHA:53351,19,HP:0031162,Impaired oropharyngeal swallow response,Occasional (29-5%),TAS,,,,"[PMID:12928496, PMID:20482602, PMID:22030388, PMID:941767]",y,y +GARD:0010536,Orphanet,370103,ORPHA:370103,7,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,"[PMID:18688663, PMID:24952478]",y,y +GARD:0010536,Orphanet,370103,ORPHA:370103,7,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:18688663, PMID:24952478]",y,y +GARD:0010536,Orphanet,370103,ORPHA:370103,7,HP:0001300,Parkinsonism,Excluded (0%),TAS,,,,"[PMID:18688663, PMID:24952478]",y,y +GARD:0010536,Orphanet,370103,ORPHA:370103,7,HP:0001618,Dysphonia,Very frequent (99-80%),TAS,,,,"[PMID:18688663, PMID:24952478]",y,y +GARD:0010536,Orphanet,370103,ORPHA:370103,7,HP:0002120,Cerebral cortical atrophy,Excluded (0%),TAS,,,,"[PMID:18688663, PMID:24952478]",y,y +GARD:0010536,Orphanet,370103,ORPHA:370103,7,HP:0007325,Generalized dystonia,Very frequent (99-80%),TAS,,,,"[PMID:18688663, PMID:24952478]",y,y +GARD:0010536,Orphanet,370103,ORPHA:370103,7,HP:0012179,Craniofacial dystonia,Frequent (79-30%),TAS,,,,"[PMID:18688663, PMID:24952478]",y,y +GARD:0010537,Orphanet,98807,ORPHA:98807,14,HP:0000473,Torticollis,Very frequent (99-80%),TAS,,,,[PMID:9120448],y,y +GARD:0010537,Orphanet,98807,ORPHA:98807,14,HP:0000733,Motor stereotypy,Very frequent (99-80%),TAS,,,,[PMID:9120448],y,y +GARD:0010537,Orphanet,98807,ORPHA:98807,14,HP:0001304,Torsion dystonia,Very frequent (99-80%),TAS,,,,[PMID:9120448],y,y +GARD:0010537,Orphanet,98807,ORPHA:98807,14,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:9120448],y,y +GARD:0010537,Orphanet,98807,ORPHA:98807,14,HP:0001609,Hoarse voice,Very rare (<4-1%),TAS,,,,[PMID:9120448],y,y +GARD:0010537,Orphanet,98807,ORPHA:98807,14,HP:0002172,Postural instability,Very frequent (99-80%),TAS,,,,[PMID:9120448],y,y +GARD:0010537,Orphanet,98807,ORPHA:98807,14,HP:0002174,Postural tremor,Occasional (29-5%),TAS,,,,[PMID:9120448],y,y +GARD:0010537,Orphanet,98807,ORPHA:98807,14,HP:0002345,Action tremor,Occasional (29-5%),TAS,,,,[PMID:9120448],y,y +GARD:0010537,Orphanet,98807,ORPHA:98807,14,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,[PMID:9120448],y,y +GARD:0010537,Orphanet,98807,ORPHA:98807,14,HP:0004305,Involuntary movements,Very frequent (99-80%),TAS,,,,[PMID:9120448],y,y +GARD:0010537,Orphanet,98807,ORPHA:98807,14,HP:0004373,Focal dystonia,Occasional (29-5%),TAS,,,,[PMID:9120448],y,y +GARD:0010537,Orphanet,98807,ORPHA:98807,14,HP:0006961,Jerky head movements,Frequent (79-30%),TAS,,,,[PMID:9120448],y,y +GARD:0010537,Orphanet,98807,ORPHA:98807,14,HP:0007325,Generalized dystonia,Very rare (<4-1%),TAS,,,,[PMID:9120448],y,y +GARD:0010537,Orphanet,98807,ORPHA:98807,14,HP:0012179,Craniofacial dystonia,Frequent (79-30%),TAS,,,,[PMID:9120448],y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0000298,Mask-like facies,Occasional (29-5%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0000467,Neck muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0000602,Ophthalmoplegia,Very rare (<4-1%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0001285,Spastic tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0005656,Positional foot deformity,Occasional (29-5%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0006879,Pontocerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0006895,Lower limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0007325,Generalized dystonia,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0007366,Atrophy/Degeneration affecting the brainstem,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0007371,Corpus callosum atrophy,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0009027,Foot dorsiflexor weakness,Very frequent (99-80%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0010677,Enuresis nocturna,Occasional (29-5%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0011096,Peripheral demyelination,Occasional (29-5%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0011448,Ankle clonus,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0012677,Iron accumulation in globus pallidus,Occasional (29-5%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0100515,Pollakisuria,Occasional (29-5%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010538,Orphanet,171629,ORPHA:171629,37,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:18463364, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942]",y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,[PMID:18243799],y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,[PMID:18243799],y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:18243799],y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,[PMID:18243799],y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,[PMID:18243799],y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:18243799],y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,[PMID:18243799],y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,[PMID:18243799],y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,[PMID:18243799],y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,[PMID:18243799],y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0002310,Orofacial dyskinesia,Frequent (79-30%),TAS,,,,[PMID:18243799],y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,[PMID:18243799],y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0002451,Limb dystonia,Very frequent (99-80%),TAS,,,,[PMID:18243799],y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,[PMID:18243799],y,y +GARD:0010539,Orphanet,210571,ORPHA:210571,15,HP:0012514,Lower limb pain,Frequent (79-30%),TAS,,,,[PMID:18243799],y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0001256,"Intellectual disability, mild",Very rare (<4-1%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0001266,Choreoathetosis,Very frequent (99-80%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0001304,Torsion dystonia,Frequent (79-30%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0002061,Lower limb spasticity,Very rare (<4-1%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0002121,Generalized non-motor (absence) seizure,Frequent (79-30%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0006801,Hyperactive deep tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010541,Orphanet,98811,ORPHA:98811,17,HP:0007166,Paroxysmal dyskinesia,Very frequent (99-80%),TAS,,,,"[PMID:11076005, PMID:18577546]",y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000600,Abnormality of the pharynx,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0001669,Transposition of the great arteries,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0004383,Hypoplastic left heart,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0008661,Urethral stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0009908,Anterior creases of earlobe,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0010515,Aplasia/Hypoplasia of the thymus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0010978,Abnormality of immune system physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0011611,Interrupted aortic arch,Occasional (29-5%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0010557,Orphanet,1727,ORPHA:1727,40,HP:0100627,Displacement of the urethral meatus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0000077,Abnormality of the kidney,Very frequent (99-80%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0000100,Nephrotic syndrome,Frequent (79-30%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0000105,Enlarged kidney,Frequent (79-30%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0000846,Adrenal insufficiency,Very rare (<4-1%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0001396,Cholestasis,Frequent (79-30%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0001917,Renal amyloidosis,Very frequent (99-80%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0002028,Chronic diarrhea,Frequent (79-30%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0004395,Malnutrition,Frequent (79-30%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0004936,Venous thrombosis,Frequent (79-30%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0011034,Amyloidosis,Very frequent (99-80%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0011830,Abnormal oral mucosa morphology,Frequent (79-30%),TAS,,,,[PMID:28462876],y,y +GARD:0010560,Orphanet,85445,ORPHA:85445,23,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,[PMID:28462876],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000366,Abnormality of the nose,Occasional (29-5%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000602,Ophthalmoplegia,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000717,Autism,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000748,Inappropriate laughter,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0001181,Adducted thumb,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0001272,Cerebellar atrophy,Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0002078,Truncal ataxia,Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0002187,"Intellectual disability, profound",Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0002197,Generalized-onset seizure,Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0002300,Mutism,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0002529,Neuronal loss in central nervous system,Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0003199,Decreased muscle mass,Occasional (29-5%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0100024,Conspicuously happy disposition,Frequent (79-30%),TAS,,,,[PMID:10528855],y,y +GARD:0010572,Orphanet,85278,ORPHA:85278,41,HP:0100613,Death in early adulthood,Occasional (29-5%),TAS,,,,[PMID:10528855],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0000437,Depressed nasal tip,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0000929,Abnormal skull morphology,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0000935,Thickened cortex of long bones,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0001054,Numerous nevi,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0003298,Spina bifida occulta,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0006402,Distal shortening of limbs,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0006429,Broad femoral neck,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0010761,Broad columella,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0012036,Sternocleidomastoid amyotrophy,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0012810,Wide nasal base,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010573,Orphanet,488434,ORPHA:488434,27,HP:0430007,Symblepharon,Frequent (79-30%),TAS,,,,[PMID:12401988],y,y +GARD:0010574,Orphanet,178333,ORPHA:178333,9,HP:0000483,Astigmatism,Very frequent (99-80%),TAS,,,,[PMID:17525176],y,y +GARD:0010574,Orphanet,178333,ORPHA:178333,9,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,[PMID:17525176],y,y +GARD:0010574,Orphanet,178333,ORPHA:178333,9,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,[PMID:17525176],y,y +GARD:0010574,Orphanet,178333,ORPHA:178333,9,HP:0000551,Color vision defect,Very frequent (99-80%),TAS,,,,[PMID:17525176],y,y +GARD:0010574,Orphanet,178333,ORPHA:178333,9,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,[PMID:17525176],y,y +GARD:0010574,Orphanet,178333,ORPHA:178333,9,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,[PMID:17525176],y,y +GARD:0010574,Orphanet,178333,ORPHA:178333,9,HP:0007750,Hypoplasia of the fovea,Very frequent (99-80%),TAS,,,,[PMID:17525176],y,y +GARD:0010574,Orphanet,178333,ORPHA:178333,9,HP:0007894,Hypopigmentation of the fundus,Very frequent (99-80%),TAS,,,,[PMID:17525176],y,y +GARD:0010574,Orphanet,178333,ORPHA:178333,9,HP:0030513,Difficulty adjusting from light to dark,Very frequent (99-80%),TAS,,,,[PMID:17525176],y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0000363,Abnormal earlobe morphology,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0000402,Stenosis of the external auditory canal,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0000677,Oligodontia,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0000932,Abnormal posterior cranial fossa morphology,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0001792,Small nail,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0001833,Long foot,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0004451,Postauricular skin tag,Occasional (29-5%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0004470,Atretic occipital cephalocele,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0010743,Short metatarsal,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0011039,Abnormal helix morphology,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0045025,Narrow palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0100874,Thick hair,Occasional (29-5%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010582,Orphanet,217017,ORPHA:217017,34,HP:0410030,Cleft lip,Frequent (79-30%),TAS,,,,"[PMID:17907157, PMID:22585531]",y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0000653,Sparse eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0000677,Oligodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,,y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0001396,Cholestasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0004552,Scarring alopecia of scalp,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010583,Orphanet,59303,ORPHA:59303,15,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:17702012],y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,[PMID:17702012],y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0002827,Hip dislocation,Very frequent (99-80%),TAS,,,,[PMID:17702012],y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0002868,Narrow iliac wing,Very frequent (99-80%),TAS,,,,[PMID:17702012],y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0002990,Fibular aplasia,Very frequent (99-80%),TAS,,,,[PMID:17702012],y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,[PMID:17702012],y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0003042,Elbow dislocation,Frequent (79-30%),TAS,,,,[PMID:17702012],y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0004018,Flared radial metaphysis,Very frequent (99-80%),TAS,,,,[PMID:17702012],y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:17702012],y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0006413,Broad tibial metaphyses,Very frequent (99-80%),TAS,,,,[PMID:17702012],y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0006434,Hypoplasia of proximal radius,Very frequent (99-80%),TAS,,,,[PMID:17702012],y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,[PMID:17702012],y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0006633,Glenoid fossa hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:17702012],y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0008808,High iliac wing,Very frequent (99-80%),TAS,,,,[PMID:17702012],y,y +GARD:0010584,Orphanet,85170,ORPHA:85170,15,HP:0010508,Metatarsus valgus,Very frequent (99-80%),TAS,,,,[PMID:17702012],y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0000012,Urinary urgency,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0000016,Urinary retention,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0000708,Behavioral abnormality,Very rare (<4-1%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0000802,Impotence,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0000970,Anhidrosis,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0001278,Orthostatic hypotension,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002045,Hypothermia,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002064,Spastic gait,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002075,Dysdiadochokinesis,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002200,Pseudobulbar signs,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002273,Tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002345,Action tremor,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002599,Head titubation,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002922,Increased CSF protein,Very rare (<4-1%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0004395,Malnutrition,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0005341,Autonomic bladder dysfunction,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0005968,Temperature instability,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0006827,Atrophy of the spinal cord,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0006886,Impaired distal vibration sensation,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0006958,Abnormal auditory evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0007351,Upper limb postural tremor,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0007366,Atrophy/Degeneration affecting the brainstem,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0007369,Atrophy/Degeneration affecting the cerebrum,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0007377,Abnormality of somatosensory evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0007480,Decreased sweating due to autonomic dysfunction,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0010831,Impaired proprioception,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0010845,EEG with generalized slow activity,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0011931,Abnormal cerebellar peduncle morphology,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0012332,Abnormal autonomic nervous system physiology,Very frequent (99-80%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010587,Orphanet,99027,ORPHA:99027,61,HP:0100639,Erectile dysfunction,Occasional (29-5%),TAS,,,,"[PMID:26749591, PMID:29302065, PMID:31695592]",y,y +GARD:0010590,Orphanet,157801,ORPHA:157801,12,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,[PMID:9783716],y,y +GARD:0010590,Orphanet,157801,ORPHA:157801,12,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,[PMID:9783716],y,y +GARD:0010590,Orphanet,157801,ORPHA:157801,12,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,[PMID:9783716],y,y +GARD:0010590,Orphanet,157801,ORPHA:157801,12,HP:0004691,2-3 toe syndactyly,Very frequent (99-80%),TAS,,,,[PMID:9783716],y,y +GARD:0010590,Orphanet,157801,ORPHA:157801,12,HP:0005048,Synostosis of carpal bones,Frequent (79-30%),TAS,,,,[PMID:9783716],y,y +GARD:0010590,Orphanet,157801,ORPHA:157801,12,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,[PMID:9783716],y,y +GARD:0010590,Orphanet,157801,ORPHA:157801,12,HP:0008362,Aplasia/Hypoplasia of the hallux,Very frequent (99-80%),TAS,,,,[PMID:9783716],y,y +GARD:0010590,Orphanet,157801,ORPHA:157801,12,HP:0009701,Metacarpal synostosis,Very frequent (99-80%),TAS,,,,[PMID:9783716],y,y +GARD:0010590,Orphanet,157801,ORPHA:157801,12,HP:0009773,Symphalangism affecting the phalanges of the hand,Very frequent (99-80%),TAS,,,,[PMID:9783716],y,y +GARD:0010590,Orphanet,157801,ORPHA:157801,12,HP:0009778,Short thumb,Very frequent (99-80%),TAS,,,,[PMID:9783716],y,y +GARD:0010590,Orphanet,157801,ORPHA:157801,12,HP:0009843,Aplasia/Hypoplasia of the middle phalanges of the hand,Very frequent (99-80%),TAS,,,,[PMID:9783716],y,y +GARD:0010590,Orphanet,157801,ORPHA:157801,12,HP:0010109,Short hallux,Very frequent (99-80%),TAS,,,,[PMID:9783716],y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0010591,Orphanet,250994,ORPHA:250994,25,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000276,Long face,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0001057,Aplasia cutis congenita,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0001863,Toe clinodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0002164,Nail dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0002558,Supernumerary nipple,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0005338,Sparse lateral eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0006315,Solitary median maxillary central incisor,Occasional (29-5%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0010761,Broad columella,Frequent (79-30%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010592,Orphanet,217346,ORPHA:217346,40,HP:0200102,Sparse or absent eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0010595,Orphanet,217266,ORPHA:217266,7,HP:0000104,Renal agenesis,Frequent (79-30%),TAS,,,,"[PMID:19732862, PMID:23401257]",y,y +GARD:0010595,Orphanet,217266,ORPHA:217266,7,HP:0000200,Short lingual frenulum,Very frequent (99-80%),TAS,,,,"[PMID:19732862, PMID:23401257]",y,y +GARD:0010595,Orphanet,217266,ORPHA:217266,7,HP:0001545,Anteriorly placed anus,Very frequent (99-80%),TAS,,,,"[PMID:19732862, PMID:23401257]",y,y +GARD:0010595,Orphanet,217266,ORPHA:217266,7,HP:0002025,Anal stenosis,Very frequent (99-80%),TAS,,,,"[PMID:19732862, PMID:23401257]",y,y +GARD:0010595,Orphanet,217266,ORPHA:217266,7,HP:0010322,Abnormality of the 5th toe,Very frequent (99-80%),TAS,,,,"[PMID:19732862, PMID:23401257]",y,y +GARD:0010595,Orphanet,217266,ORPHA:217266,7,HP:0011803,Bifid nose,Obligate (100%),TAS,,,,"[PMID:19732862, PMID:23401257]",y,y +GARD:0010595,Orphanet,217266,ORPHA:217266,7,HP:0012252,Abnormal respiratory system morphology,Occasional (29-5%),TAS,,,,"[PMID:19732862, PMID:23401257]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0000008,Abnormal morphology of female internal genitalia,Very frequent (99-80%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0000151,Aplasia of the uterus,Very frequent (99-80%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0001061,Acne,Very rare (<4-1%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0002215,Sparse axillary hair,Frequent (79-30%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0002221,Absent axillary hair,Frequent (79-30%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0002225,Sparse pubic hair,Frequent (79-30%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0002555,Absent pubic hair,Frequent (79-30%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0003251,Male infertility,Very frequent (99-80%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0008655,Aplasia/Hypoplasia of the fallopian tube,Very frequent (99-80%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0008689,Bilateral cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0008730,"Female external genitalia in individual with 46,XY karyotype",Very frequent (99-80%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0010788,Testicular neoplasm,Occasional (29-5%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0011969,Elevated circulating luteinizing hormone level,Very frequent (99-80%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0012888,Abnormality of the uterine cervix,Very frequent (99-80%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0025134,Increased serum estradiol,Very frequent (99-80%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0030088,Increased serum testosterone level,Very frequent (99-80%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0030346,Abnormal circulating follicle-stimulating hormone concentration,Very rare (<4-1%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0031102,Increased antimullerian hormone level,Frequent (79-30%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0040314,Blind vagina,Very frequent (99-80%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010597,Orphanet,99429,ORPHA:99429,23,HP:0100728,Germ cell neoplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301602, PMID:29768628, PMID:29949163, PMID:30970592]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0000141,Amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0000478,Abnormality of the eye,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0000609,Optic nerve hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0000789,Infertility,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0000839,Pituitary dwarfism,Occasional (29-5%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0001274,Agenesis of corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0001331,Absent septum pellucidum,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0001360,Holoprosencephaly,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0002920,Decreased circulating ACTH level,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0004637,Decreased cervical spine mobility,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0005625,Osteoporosis of vertebrae,Occasional (29-5%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0008187,Absence of secondary sex characteristics,Occasional (29-5%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0008501,Median cleft lip and palate,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0009888,Abnormality of secondary sexual hair,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0010311,Aplasia/Hypoplasia of the breasts,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0010442,Polydactyly,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0010626,Anterior pituitary agenesis,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0010627,Anterior pituitary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0011297,Abnormal digit morphology,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0011344,Severe global developmental delay,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0011755,Ectopic posterior pituitary,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0012731,Ectopic anterior pituitary gland,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0040075,Hypopituitarism,Obligate (100%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0040086,Abnormal prolactin level,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010602,Orphanet,95494,ORPHA:95494,39,HP:0100842,Septo-optic dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831]",y,y +GARD:0010603,Orphanet,231720,ORPHA:231720,10,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:18407919],y,y +GARD:0010603,Orphanet,231720,ORPHA:231720,10,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,[PMID:18407919],y,y +GARD:0010603,Orphanet,231720,ORPHA:231720,10,HP:0000824,Decreased response to growth hormone stimulation test,Very frequent (99-80%),TAS,,,,[PMID:18407919],y,y +GARD:0010603,Orphanet,231720,ORPHA:231720,10,HP:0003423,Thoracolumbar kyphoscoliosis,Very frequent (99-80%),TAS,,,,[PMID:18407919],y,y +GARD:0010603,Orphanet,231720,ORPHA:231720,10,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:18407919],y,y +GARD:0010603,Orphanet,231720,ORPHA:231720,10,HP:0008213,Gonadotropin deficiency,Very frequent (99-80%),TAS,,,,[PMID:18407919],y,y +GARD:0010603,Orphanet,231720,ORPHA:231720,10,HP:0008245,Pituitary hypothyroidism,Very frequent (99-80%),TAS,,,,[PMID:18407919],y,y +GARD:0010603,Orphanet,231720,ORPHA:231720,10,HP:0010627,Anterior pituitary hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:18407919],y,y +GARD:0010603,Orphanet,231720,ORPHA:231720,10,HP:0011748,Adrenocorticotropic hormone deficiency,Occasional (29-5%),TAS,,,,[PMID:18407919],y,y +GARD:0010603,Orphanet,231720,ORPHA:231720,10,HP:0012287,Hypothalamic luteinizing hormone-releasing hormone deficiency,Very frequent (99-80%),TAS,,,,[PMID:18407919],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0001792,Small nail,Frequent (79-30%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0001821,Broad nail,Frequent (79-30%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0002812,Coxa vara,Very frequent (99-80%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0002869,Flared iliac wing,Frequent (79-30%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0003300,Ovoid vertebral bodies,Frequent (79-30%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0003367,Abnormal femoral neck morphology,Very frequent (99-80%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0006059,Cone-shaped metacarpal epiphyses,Frequent (79-30%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0010306,Short thorax,Occasional (29-5%),TAS,,,,[PMID:12624140],y,y +GARD:0010605,Orphanet,63446,ORPHA:63446,21,HP:0010579,Cone-shaped epiphysis,Very frequent (99-80%),TAS,,,,[PMID:12624140],y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0001188,Hand clenching,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0001248,Short tubular bones of the hand,Frequent (79-30%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0002990,Fibular aplasia,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0002999,Patellar dislocation,Frequent (79-30%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0003042,Elbow dislocation,Frequent (79-30%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0003049,Ulnar deviation of the wrist,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0003063,Abnormality of the humerus,Frequent (79-30%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0003417,Coronal cleft vertebrae,Frequent (79-30%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0003862,Absent humerus,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0003902,Epiphyseal stippling of the humerus,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0003974,Absent radius,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0004976,Knee dislocation,Frequent (79-30%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0005257,Thoracic hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0005619,Thoracolumbar kyphosis,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0005736,Short tibia,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0005905,Abnormal cervical curvature,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0006384,Club-shaped distal femur,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0006408,Distal tapering femur,Frequent (79-30%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0008417,Vertebral hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010608,Orphanet,56305,ORPHA:56305,27,HP:0008755,Laryngotracheomalacia,Occasional (29-5%),TAS,,,,"[PMID:16752402, PMID:20301736, PMID:9133349]",y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0010609,Orphanet,73273,ORPHA:73273,16,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010611,Orphanet,156728,ORPHA:156728,11,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,[PMID:15121775],y,y +GARD:0010611,Orphanet,156728,ORPHA:156728,11,HP:0001377,Limited elbow extension,Frequent (79-30%),TAS,,,,[PMID:15121775],y,y +GARD:0010611,Orphanet,156728,ORPHA:156728,11,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,[PMID:15121775],y,y +GARD:0010611,Orphanet,156728,ORPHA:156728,11,HP:0002938,Lumbar hyperlordosis,Frequent (79-30%),TAS,,,,[PMID:15121775],y,y +GARD:0010611,Orphanet,156728,ORPHA:156728,11,HP:0002979,Bowing of the legs,Very frequent (99-80%),TAS,,,,[PMID:15121775],y,y +GARD:0010611,Orphanet,156728,ORPHA:156728,11,HP:0003037,Enlarged joints,Occasional (29-5%),TAS,,,,[PMID:15121775],y,y +GARD:0010611,Orphanet,156728,ORPHA:156728,11,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:15121775],y,y +GARD:0010611,Orphanet,156728,ORPHA:156728,11,HP:0005257,Thoracic hypoplasia,Occasional (29-5%),TAS,,,,[PMID:15121775],y,y +GARD:0010611,Orphanet,156728,ORPHA:156728,11,HP:0008873,Disproportionate short-limb short stature,Frequent (79-30%),TAS,,,,[PMID:15121775],y,y +GARD:0010611,Orphanet,156728,ORPHA:156728,11,HP:0009826,Limb undergrowth,Very frequent (99-80%),TAS,,,,[PMID:15121775],y,y +GARD:0010611,Orphanet,156728,ORPHA:156728,11,HP:0012368,Flat face,Occasional (29-5%),TAS,,,,[PMID:15121775],y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0000773,Short ribs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0001591,Bell-shaped thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0002991,Abnormality of fibula morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0003307,Hyperlordosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0005019,Diaphyseal thickening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0009826,Limb undergrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010612,Orphanet,1803,ORPHA:1803,18,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0000012,Urinary urgency,Occasional (29-5%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0000016,Urinary retention,Occasional (29-5%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0000764,Peripheral axonal degeneration,Very frequent (99-80%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0000846,Adrenal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0000849,Adrenocortical abnormality,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0002143,Abnormality of the spinal cord,Very frequent (99-80%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0002292,Frontal balding,Occasional (29-5%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0002607,Bowel incontinence,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0002839,Urinary bladder sphincter dysfunction,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0002936,Distal sensory impairment,Very frequent (99-80%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0004359,Abnormal circulating fatty-acid concentration,Very frequent (99-80%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0006827,Atrophy of the spinal cord,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0007006,Dorsal column degeneration,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0007199,Progressive spastic paraparesis,Very frequent (99-80%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0007266,Cerebral dysmyelination,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0007372,Atrophy/Degeneration involving the corticospinal tracts,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0008167,Very long chain fatty acid accumulation,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0008207,Primary adrenal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0008969,Leg muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0010284,Intra-oral hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0011749,Adrenocorticotropic hormone excess,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0012534,Dysesthesia,Occasional (29-5%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0030014,Female sexual dysfunction,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0030177,Abnormality of peripheral nervous system electrophysiology,Very frequent (99-80%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0031064,Impaired continence,Very frequent (99-80%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0031845,Abnormal libido,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0040078,Axonal degeneration,Very frequent (99-80%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0040307,Male sexual dysfunction,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0100291,Abnormality of central somatosensory evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0100502,Vitamin B12 deficiency,Occasional (29-5%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0100639,Erectile dysfunction,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0100816,Lip hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010614,Orphanet,139399,ORPHA:139399,49,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:17342190, PMID:20301491, PMID:25378668, PMID:31526374, PMID:31909500]",y,y +GARD:0010618,Orphanet,93356,ORPHA:93356,12,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,"[PMID:16167086, PMID:9258750]",y,y +GARD:0010618,Orphanet,93356,ORPHA:93356,12,HP:0002980,Femoral bowing,Frequent (79-30%),TAS,,,,"[PMID:16167086, PMID:9258750]",y,y +GARD:0010618,Orphanet,93356,ORPHA:93356,12,HP:0002982,Tibial bowing,Frequent (79-30%),TAS,,,,"[PMID:16167086, PMID:9258750]",y,y +GARD:0010618,Orphanet,93356,ORPHA:93356,12,HP:0003015,Flared metaphysis,Frequent (79-30%),TAS,,,,"[PMID:16167086, PMID:9258750]",y,y +GARD:0010618,Orphanet,93356,ORPHA:93356,12,HP:0003025,Metaphyseal irregularity,Frequent (79-30%),TAS,,,,"[PMID:16167086, PMID:9258750]",y,y +GARD:0010618,Orphanet,93356,ORPHA:93356,12,HP:0003071,Flattened epiphysis,Frequent (79-30%),TAS,,,,"[PMID:16167086, PMID:9258750]",y,y +GARD:0010618,Orphanet,93356,ORPHA:93356,12,HP:0003498,Disproportionate short stature,Frequent (79-30%),TAS,,,,"[PMID:16167086, PMID:9258750]",y,y +GARD:0010618,Orphanet,93356,ORPHA:93356,12,HP:0004566,Pear-shaped vertebrae,Frequent (79-30%),TAS,,,,"[PMID:16167086, PMID:9258750]",y,y +GARD:0010618,Orphanet,93356,ORPHA:93356,12,HP:0005086,Knee osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:16167086, PMID:9258750]",y,y +GARD:0010618,Orphanet,93356,ORPHA:93356,12,HP:0006385,Short lower limbs,Frequent (79-30%),TAS,,,,"[PMID:16167086, PMID:9258750]",y,y +GARD:0010618,Orphanet,93356,ORPHA:93356,12,HP:0010585,Small epiphyses,Frequent (79-30%),TAS,,,,"[PMID:16167086, PMID:9258750]",y,y +GARD:0010618,Orphanet,93356,ORPHA:93356,12,HP:0025369,Thick growth plates,Frequent (79-30%),TAS,,,,"[PMID:16167086, PMID:9258750]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0000175,Cleft palate,Excluded (0%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0000541,Retinal detachment,Excluded (0%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0001552,Barrel-shaped chest,Very frequent (99-80%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0002654,Multiple epiphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0002763,Abnormal cartilage morphology,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0002812,Coxa vara,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0002942,Thoracic kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0002945,Intervertebral space narrowing,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0002960,Autoimmunity,Excluded (0%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0002996,Limited elbow movement,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0003043,Abnormal shoulder morphology,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0003051,Enlarged metaphyses,Very frequent (99-80%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0003088,Premature osteoarthritis,Very frequent (99-80%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0003311,Hypoplasia of the odontoid process,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0003365,Arthralgia of the hip,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0003401,Paresthesia,Very rare (<4-1%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0003418,Back pain,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0003521,Disproportionate short-trunk short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0003832,Abnormality of the tibial plateaux,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0003855,Spurred metaphyses of the upper limbs,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0004586,Biconcave vertebral bodies,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0004594,Hump-shaped mound of bone in central and posterior portions of vertebral endplate,Very frequent (99-80%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0004637,Decreased cervical spine mobility,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0005086,Knee osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0005775,Multiple skeletal anomalies,Very frequent (99-80%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0006233,Osteoarthritis of the distal interphalangeal joint,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0006248,Limited wrist movement,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0006467,Limited shoulder movement,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0008812,Flattened femoral head,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0008843,Hip osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0009763,Limb pain,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0010231,Enlarged epiphyses of the phalanges of the hand,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0010575,Dysplasia of the femoral head,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0010656,Abnormal epiphyseal ossification,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0011001,Increased bone mineral density,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0012649,Increased inflammatory response,Excluded (0%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0012771,Increased arm span,Very frequent (99-80%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0025131,Finger swelling,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0025263,Stiff knee,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0030839,Knee pain,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0040161,Localized osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0100569,Abnormally ossified vertebrae,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0100712,Abnormal lumbar spine morphology,Frequent (79-30%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0100769,Synovitis,Excluded (0%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010624,Orphanet,93284,ORPHA:93284,54,HP:0100864,Short femoral neck,Occasional (29-5%),TAS,,,,"[PMID:20301324, PMID:27401665, PMID:32471379]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000153,Abnormality of the mouth,Frequent (79-30%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000399,Prelingual sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000736,Short attention span,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000752,Hyperactivity,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0001956,Truncal obesity,Occasional (29-5%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0003265,Neonatal hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0006266,Small placenta,Frequent (79-30%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0007911,Congenital bilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0008527,Congenital sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0008619,Bilateral sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0008846,Severe intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0008850,Severe postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0011120,Concave nasal ridge,Occasional (29-5%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010627,Orphanet,73272,ORPHA:73272,42,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:14684690, PMID:24243634, PMID:24389050, PMID:8857020]",y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000215,Thick upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000306,Abnormality of the chin,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000475,Broad neck,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0001832,Abnormal metatarsal morphology,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0002164,Nail dysplasia,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0002212,Curly hair,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0002967,Cubitus valgus,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0004634,Cuboid-shaped vertebral bodies,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0005069,Rhizo-meso-acromelic limb shortening,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0005622,Broad long bones,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0006394,Limited pronation/supination of forearm,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0007665,Curly eyelashes,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0008496,Multiple rows of eyelashes,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0008839,Hypoplastic pelvis,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0009103,Aplasia/Hypoplasia involving the pelvis,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0009937,Facial hirsutism,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0010306,Short thorax,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0011829,Narrow philtrum,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010629,Orphanet,163654,ORPHA:163654,39,HP:0100625,Enlarged thorax,Frequent (79-30%),TAS,,,,[PMID:17515304],y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0000202,Oral cleft,Very rare (<4-1%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0000453,Choanal atresia,Very rare (<4-1%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0000588,Optic disc coloboma,Very rare (<4-1%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0000951,Abnormality of the skin,Occasional (29-5%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0001944,Dehydration,Frequent (79-30%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0002013,Vomiting,Very rare (<4-1%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0002023,Anal atresia,Very rare (<4-1%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0002028,Chronic diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0002570,Steatorrhea,Frequent (79-30%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0002611,Cholestatic liver disease,Very rare (<4-1%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0002652,Skeletal dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0005208,Secretory diarrhea,Frequent (79-30%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0011473,Villous atrophy,Very frequent (99-80%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0011859,Punctate keratitis,Very rare (<4-1%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0025090,Abnormal large intestinal mucosa morphology,Occasional (29-5%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0025129,Abnormal small intestinal mucosa morphology,Frequent (79-30%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0032486,Elevated fecal osmolality,Frequent (79-30%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010630,Orphanet,92050,ORPHA:92050,26,HP:0200020,Corneal erosion,Occasional (29-5%),TAS,,,,"[PMID:30461124, PMID:33029133, PMID:33374714]",y,y +GARD:0010633,Orphanet,251643,ORPHA:251643,12,HP:0000372,Abnormality of the auditory canal,Very rare (<4-1%),TAS,,,,"[PMID:16206735, PMID:18357830, PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193, PMID:6695856, PMID:6895163]",y,y +GARD:0010633,Orphanet,251643,ORPHA:251643,12,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:16206735, PMID:18357830, PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193, PMID:6695856, PMID:6895163]",y,y +GARD:0010633,Orphanet,251643,ORPHA:251643,12,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:16206735, PMID:18357830, PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193, PMID:6695856, PMID:6895163]",y,y +GARD:0010633,Orphanet,251643,ORPHA:251643,12,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:16206735, PMID:18357830, PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193, PMID:6695856, PMID:6895163]",y,y +GARD:0010633,Orphanet,251643,ORPHA:251643,12,HP:0002888,Ependymoma,Obligate (100%),TAS,,,,"[PMID:16206735, PMID:18357830, PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193, PMID:6695856, PMID:6895163]",y,y +GARD:0010633,Orphanet,251643,ORPHA:251643,12,HP:0005107,Abnormal sacrum morphology,Occasional (29-5%),TAS,,,,"[PMID:16206735, PMID:18357830, PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193, PMID:6695856, PMID:6895163]",y,y +GARD:0010633,Orphanet,251643,ORPHA:251643,12,HP:0005341,Autonomic bladder dysfunction,Frequent (79-30%),TAS,,,,"[PMID:16206735, PMID:18357830, PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193, PMID:6695856, PMID:6895163]",y,y +GARD:0010633,Orphanet,251643,ORPHA:251643,12,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,"[PMID:16206735, PMID:18357830, PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193, PMID:6695856, PMID:6895163]",y,y +GARD:0010633,Orphanet,251643,ORPHA:251643,12,HP:0012700,Abnormal large intestine physiology,Frequent (79-30%),TAS,,,,"[PMID:16206735, PMID:18357830, PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193, PMID:6695856, PMID:6895163]",y,y +GARD:0010633,Orphanet,251643,ORPHA:251643,12,HP:0030833,Neck pain,Frequent (79-30%),TAS,,,,"[PMID:16206735, PMID:18357830, PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193, PMID:6695856, PMID:6895163]",y,y +GARD:0010633,Orphanet,251643,ORPHA:251643,12,HP:0031938,Abnormal conus terminalis morphology,Very frequent (99-80%),TAS,,,,"[PMID:16206735, PMID:18357830, PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193, PMID:6695856, PMID:6895163]",y,y +GARD:0010633,Orphanet,251643,ORPHA:251643,12,HP:0100006,Neoplasm of the central nervous system,Frequent (79-30%),TAS,,,,"[PMID:16206735, PMID:18357830, PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193, PMID:6695856, PMID:6895163]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0000141,Amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0000802,Impotence,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0000845,Elevated circulating growth hormone concentration,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0001262,Excessive daytime somnolence,Very rare (<4-1%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0001317,Abnormal cerebellum morphology,Very rare (<4-1%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0002363,Abnormal brainstem morphology,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0002591,Polyphagia,Very rare (<4-1%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0003005,Ganglioneuroma,Very frequent (99-80%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0003396,Syringomyelia,Very rare (<4-1%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0005616,Accelerated skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0006767,Pituitary prolactin cell adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0010302,Spinal cord tumor,Frequent (79-30%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0011749,Adrenocorticotropic hormone excess,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0011761,Pituitary null cell adenoma,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0012377,Hemianopia,Frequent (79-30%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0012503,Abnormality of the pituitary gland,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0030018,Decreased female libido,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0040086,Abnormal prolactin level,Occasional (29-5%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010638,Orphanet,251937,ORPHA:251937,26,HP:0100006,Neoplasm of the central nervous system,Frequent (79-30%),TAS,,,,"[PMID:10470826, PMID:11373931, PMID:12060349, PMID:12622135, PMID:15690130, PMID:15739067, PMID:17460525, PMID:1767634, PMID:18297623, PMID:18651251, PMID:19789938, PMID:2369716, PMID:24430434, PMID:2512034, PMID:25259876, PMID:26314658, PMID:2927689, PMID:3022544, PMID:6423659, PMID:6631503, PMID:6707754, PMID:6955631, PMID:7252559, PMID:7584515, PMID:8246055, PMID:8264895, PMID:9055303]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0000238,Hydrocephalus,Obligate (100%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0002516,Increased intracranial pressure,Frequent (79-30%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0007021,Pain insensitivity,Occasional (29-5%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0008000,Decreased corneal reflex,Frequent (79-30%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0010576,Intracranial cystic lesion,Very frequent (99-80%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0025354,Abnormal cellular phenotype,Very frequent (99-80%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010641,Orphanet,73256,ORPHA:73256,19,HP:0030047,Abnormal lateral ventricle morphology,Very frequent (99-80%),TAS,,,,"[PMID:15015671, PMID:3776470]",y,y +GARD:0010643,Orphanet,97286,ORPHA:97286,10,HP:0000360,Tinnitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010643,Orphanet,97286,ORPHA:97286,10,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010643,Orphanet,97286,ORPHA:97286,10,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0010643,Orphanet,97286,ORPHA:97286,10,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010643,Orphanet,97286,ORPHA:97286,10,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0010643,Orphanet,97286,ORPHA:97286,10,HP:0002239,Gastrointestinal hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0010643,Orphanet,97286,ORPHA:97286,10,HP:0002668,Paraganglioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010643,Orphanet,97286,ORPHA:97286,10,HP:0005214,Intestinal obstruction,Frequent (79-30%),TAS,,,,,y,y +GARD:0010643,Orphanet,97286,ORPHA:97286,10,HP:0006824,Cranial nerve paralysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010643,Orphanet,97286,ORPHA:97286,10,HP:0100723,Gastrointestinal stroma tumor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0000539,Abnormality of refraction,Frequent (79-30%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0000548,Cone/cone-rod dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0000589,Coloboma,Occasional (29-5%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0000887,Cupped ribs,Frequent (79-30%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0000946,Hypoplastic ilia,Frequent (79-30%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0001105,Retinal atrophy,Occasional (29-5%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0001132,Lens subluxation,Occasional (29-5%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0002812,Coxa vara,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0002979,Bowing of the legs,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0003015,Flared metaphysis,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0003025,Metaphyseal irregularity,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0003026,Short long bone,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0003300,Ovoid vertebral bodies,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0003375,Narrow greater sciatic notch,Frequent (79-30%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0005054,Metaphyseal spurs,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0007401,Macular atrophy,Occasional (29-5%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0007688,Undetectable light- and dark-adapted electroretinogram,Occasional (29-5%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0009803,Short phalanx of finger,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0009918,Ectopia pupillae,Occasional (29-5%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0010583,Ivory epiphyses,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0012153,Hypotriglyceridemia,Occasional (29-5%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0030329,Retinal thinning,Very frequent (99-80%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010647,Orphanet,85167,ORPHA:85167,39,HP:0031171,Femoral spur,Frequent (79-30%),TAS,,,,"[PMID:24387991, PMID:24476460, PMID:30559292]",y,y +GARD:0010667,Orphanet,329466,ORPHA:329466,7,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,"[PMID:23222958, PMID:24952478, PMID:8309575]",y,y +GARD:0010667,Orphanet,329466,ORPHA:329466,7,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:23222958, PMID:24952478, PMID:8309575]",y,y +GARD:0010667,Orphanet,329466,ORPHA:329466,7,HP:0002530,Axial dystonia,Frequent (79-30%),TAS,,,,"[PMID:23222958, PMID:24952478, PMID:8309575]",y,y +GARD:0010667,Orphanet,329466,ORPHA:329466,7,HP:0004373,Focal dystonia,Very frequent (99-80%),TAS,,,,"[PMID:23222958, PMID:24952478, PMID:8309575]",y,y +GARD:0010667,Orphanet,329466,ORPHA:329466,7,HP:0012049,Laryngeal dystonia,Frequent (79-30%),TAS,,,,"[PMID:23222958, PMID:24952478, PMID:8309575]",y,y +GARD:0010667,Orphanet,329466,ORPHA:329466,7,HP:0012179,Craniofacial dystonia,Frequent (79-30%),TAS,,,,"[PMID:23222958, PMID:24952478, PMID:8309575]",y,y +GARD:0010667,Orphanet,329466,ORPHA:329466,7,HP:0031008,Lingual dystonia,Frequent (79-30%),TAS,,,,"[PMID:23222958, PMID:24952478, PMID:8309575]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0000656,Ectropion,Frequent (79-30%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0001522,Death in infancy,Very frequent (99-80%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0001558,Decreased fetal movement,Very frequent (99-80%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0001743,Abnormality of the spleen,Frequent (79-30%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0001789,Hydrops fetalis,Very frequent (99-80%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0001876,Pancytopenia,Very frequent (99-80%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0001989,Fetal akinesia sequence,Frequent (79-30%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0002170,Intracranial hemorrhage,Very frequent (99-80%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0003811,Neonatal death,Very frequent (99-80%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0003826,Stillbirth,Very frequent (99-80%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0007479,Congenital nonbullous ichthyosiform erythroderma,Very frequent (99-80%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010675,Orphanet,85212,ORPHA:85212,24,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,"[PMID:12838552, PMID:20301446]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0000311,Round face,Frequent (79-30%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0000824,Decreased response to growth hormone stimulation test,Very rare (<4-1%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0000852,Pseudohypoparathyroidism,Obligate (100%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0002199,Hypocalcemic seizures,Very rare (<4-1%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0002905,Hyperphosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0003034,Diaphyseal sclerosis,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0003165,Elevated circulating parathyroid hormone level,Very frequent (99-80%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0003456,Low urinary cyclic AMP response to PTH administration,Very frequent (99-80%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0003472,Hypocalcemic tetany,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0003739,Myoclonic spasms,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0003761,Calcinosis,Excluded (0%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0003909,Cortical subperiosteal resorption of humeral metaphyses,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0005700,Increased bone density with cystic changes,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0008227,Pituitary resistance to thyroid hormone,Very rare (<4-1%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0010766,Ectopic calcification,Excluded (0%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0011001,Increased bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0011458,Abdominal symptom,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0012049,Laryngeal dystonia,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010680,Orphanet,94089,ORPHA:94089,39,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:8427051, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0000311,Round face,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0000815,Hypergonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0000852,Pseudohypoparathyroidism,Obligate (100%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0000876,Oligomenorrhea,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0002135,Basal ganglia calcification,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0002199,Hypocalcemic seizures,Very rare (<4-1%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0002905,Hyperphosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0003165,Elevated circulating parathyroid hormone level,Very frequent (99-80%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0003456,Low urinary cyclic AMP response to PTH administration,Very frequent (99-80%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0003472,Hypocalcemic tetany,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0003739,Myoclonic spasms,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0003761,Calcinosis,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0004704,Short fifth metatarsal,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0006960,Choroid plexus calcification,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0008202,Reduced circulating prolactin concentration,Very rare (<4-1%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0008227,Pituitary resistance to thyroid hormone,Very frequent (99-80%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0009642,Broad distal phalanx of the thumb,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0010041,Short 3rd metacarpal,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0010044,Short 4th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0010047,Short 5th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0010743,Short metatarsal,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0011001,Increased bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0011458,Abdominal symptom,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0011986,Ectopic ossification,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0012049,Laryngeal dystonia,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0012185,Constrictive median neuropathy,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0025027,Osteoma cutis,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010681,Orphanet,79444,ORPHA:79444,55,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21488135, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0000852,Pseudohypoparathyroidism,Obligate (100%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0002199,Hypocalcemic seizures,Frequent (79-30%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0002905,Hyperphosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0003165,Elevated circulating parathyroid hormone level,Very frequent (99-80%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0003456,Low urinary cyclic AMP response to PTH administration,Excluded (0%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0003472,Hypocalcemic tetany,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0003739,Myoclonic spasms,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0003761,Calcinosis,Excluded (0%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0010766,Ectopic calcification,Excluded (0%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0011458,Abdominal symptom,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0012049,Laryngeal dystonia,Occasional (29-5%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010682,Orphanet,94090,ORPHA:94090,16,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:10478236, PMID:10700702, PMID:11067869, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:24694489, PMID:26160136, PMID:2848415, PMID:4309802, PMID:4355058, PMID:4370302, PMID:8427051, PMID:9506735]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0002127,Abnormal upper motor neuron morphology,Very frequent (99-80%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0002200,Pseudobulbar signs,Frequent (79-30%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0002366,Abnormal lower motor neuron morphology,Excluded (0%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0002371,Loss of speech,Frequent (79-30%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0002493,Upper motor neuron dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0003444,EMG: chronic denervation signs,Frequent (79-30%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0003474,Somatic sensory dysfunction,Excluded (0%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0006827,Atrophy of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0007002,Motor axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0007034,Generalized hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0007199,Progressive spastic paraparesis,Frequent (79-30%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0010549,Weakness due to upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010684,Orphanet,35689,ORPHA:35689,18,HP:0010873,Cervical spinal cord atrophy,Occasional (29-5%),TAS,,,,"[PMID:1606479, PMID:17404201, PMID:25008395]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0000338,Hypomimic face,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0000643,Blepharospasm,Occasional (29-5%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0000709,Psychosis,Very rare (<4-1%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0000727,Frontal lobe dementia,Very rare (<4-1%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0001348,Brisk reflexes,Occasional (29-5%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0001621,Weak voice,Occasional (29-5%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0001686,Loss of voice,Occasional (29-5%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0002134,Abnormality of the basal ganglia,Very frequent (99-80%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0002310,Orofacial dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0002322,Resting tremor,Very rare (<4-1%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0002339,Abnormal caudate nucleus morphology,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0002340,Caudate atrophy,Occasional (29-5%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0002356,Writer's cramp,Occasional (29-5%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0002395,Lower limb hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0002922,Increased CSF protein,Very rare (<4-1%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0003487,Babinski sign,Very rare (<4-1%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0004373,Focal dystonia,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0007123,Subcortical dementia,Very rare (<4-1%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0007350,Hyperreflexia in upper limbs,Occasional (29-5%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0007772,Impaired smooth pursuit,Occasional (29-5%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0010530,Palatal myoclonus,Occasional (29-5%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0012343,Decreased circulating ferritin concentration,Very frequent (99-80%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0012675,Iron accumulation in brain,Very frequent (99-80%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0012677,Iron accumulation in globus pallidus,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0012678,Iron accumulation in substantia nigra,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0012690,T2 hypointense thalamus,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0012696,Abnormal thalamic MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0025331,Upgaze palsy,Very rare (<4-1%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0031959,Leg dystonia,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0031960,Arm dystonia,Occasional (29-5%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0031982,Abnormal putamen morphology,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0100321,Abnormal dentate nucleus morphology,Frequent (79-30%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010686,Orphanet,157846,ORPHA:157846,43,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:17142829, PMID:20301320]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0001653,Mitral regurgitation,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0001678,Atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0001694,Right-to-left shunt,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0001712,Left ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0001907,Thromboembolism,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0002795,Abnormal respiratory system physiology,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0003546,Exercise intolerance,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0004749,Atrial flutter,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0004927,Pulmonary artery dilatation,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0005110,Atrial fibrillation,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0005133,Right ventricular dilatation,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0005180,Tricuspid regurgitation,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0006536,Airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0011705,First degree atrioventricular block,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0011712,Right bundle branch block,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0012248,Prolonged PR interval,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0012398,Peripheral edema,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0030718,Right atrial enlargement,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0031295,Left atrial enlargement,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0031595,Abnormal P wave,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0031658,Third heart sound,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0031662,Fixed splitting of the second heart sound,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0031664,Systolic heart murmur,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0031687,Abnormally loud pulmonic component of the second heart sound,Frequent (79-30%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0100759,Clubbing of fingers,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010695,Orphanet,99106,ORPHA:99106,38,HP:0100760,Clubbing of toes,Occasional (29-5%),TAS,,,,"[PMID:13410952, PMID:24725467]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0001692,Atrial arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0001907,Thromboembolism,Very rare (<4-1%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0004749,Atrial flutter,Occasional (29-5%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0004755,Supraventricular tachycardia,Occasional (29-5%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0005110,Atrial fibrillation,Occasional (29-5%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0005115,Supraventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0005133,Right ventricular dilatation,Occasional (29-5%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0006536,Airway obstruction,Very rare (<4-1%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0006699,Premature atrial contractions,Occasional (29-5%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0010772,Anomalous pulmonary venous return,Frequent (79-30%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0011700,Automatic atrial tachycardia,Occasional (29-5%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0011705,First degree atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0011712,Right bundle branch block,Occasional (29-5%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0011716,Junctional ectopic tachycardia,Occasional (29-5%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0012382,Left-to-right shunt,Very frequent (99-80%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0031546,Cardiac conduction abnormality,Frequent (79-30%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0031663,Paradoxical splitting of the second heart sound,Frequent (79-30%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010696,Orphanet,99105,ORPHA:99105,27,HP:0031664,Systolic heart murmur,Frequent (79-30%),TAS,,,,"[PMID:27090050, PMID:30305954, PMID:31364173, PMID:619811]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0000961,Cyanosis,Very rare (<4-1%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0001279,Syncope,Very rare (<4-1%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0001708,Right ventricular failure,Very rare (<4-1%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0002090,Pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0002718,Recurrent bacterial infections,Very rare (<4-1%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0005115,Supraventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0005133,Right ventricular dilatation,Occasional (29-5%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0005317,Increased pulmonary vascular resistance,Very rare (<4-1%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0010772,Anomalous pulmonary venous return,Frequent (79-30%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0011710,Bundle branch block,Occasional (29-5%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0012382,Left-to-right shunt,Very frequent (99-80%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0030718,Right atrial enlargement,Occasional (29-5%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0031297,Unroofed coronary sinus,Very frequent (99-80%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0031634,Anomalous origin of the left common carotid artery from the main pulmonary artery,Frequent (79-30%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0031664,Systolic heart murmur,Frequent (79-30%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0031687,Abnormally loud pulmonic component of the second heart sound,Frequent (79-30%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010697,Orphanet,99104,ORPHA:99104,26,HP:0031972,Presyncope,Occasional (29-5%),TAS,,,,"[PMID:22122378, PMID:27161562, PMID:30571061, PMID:9374080]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0000253,Progressive microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0001266,Choreoathetosis,Very frequent (99-80%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0001320,Cerebellar vermis hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0001999,Abnormal facial shape,Excluded (0%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0002104,Apnea,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0002123,Generalized myoclonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0002268,Paroxysmal dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0002350,Cerebellar cyst,Very rare (<4-1%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0002365,Hypoplasia of the brainstem,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0002536,Abnormal cortical gyration,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0003558,Viral infection-induced rhabdomyolysis,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0006850,Hypoplasia of the ventral pons,Very frequent (99-80%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0006895,Lower limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0006989,Dysplastic corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0009062,Infantile axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0011171,Simple febrile seizure,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0012469,Infantile spasms,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0012765,Widened cerebellar subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0025190,Bilateral tonic-clonic seizure with generalized onset,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0031162,Impaired oropharyngeal swallow response,Very frequent (99-80%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0200049,Upper limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010705,Orphanet,2524,ORPHA:2524,40,HP:0200136,Oral-pharyngeal dysphagia,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:23562994]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0000338,Hypomimic face,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0001392,Abnormality of the liver,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0001409,Portal hypertension,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0001413,Micronodular cirrhosis,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0001901,Polycythemia,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0001928,Abnormality of coagulation,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0002040,Esophageal varix,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0002078,Truncal ataxia,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0002154,Hyperglycinemia,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0002345,Action tremor,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0002446,Astrocytosis,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0002453,Abnormal globus pallidus morphology,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0004337,Abnormality of amino acid metabolism,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0008151,Prolonged prothrombin time,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0010927,Abnormal blood inorganic cation concentration,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0012343,Decreased circulating ferritin concentration,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0012447,Abnormal myelination,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0012751,Abnormal basal ganglia MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0025196,Increased total iron binding capacity,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0025321,Copper accumulation in liver,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0040135,Abnormal transferrin saturation,Frequent (79-30%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010706,Orphanet,309854,ORPHA:309854,40,HP:0100513,Low levels of vitamin E,Occasional (29-5%),TAS,,,,"[PMID:18392750, PMID:22341971, PMID:22341972, PMID:24599576]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000687,Widely spaced teeth,Very frequent (99-80%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000691,Microdontia,Very frequent (99-80%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0000698,Conical tooth,Very frequent (99-80%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0001291,Abnormal cranial nerve morphology,Very frequent (99-80%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0008499,High hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0010609,Skin tags,Occasional (29-5%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010707,Orphanet,90024,ORPHA:90024,23,HP:0011372,Aplasia of the inner ear,Very frequent (99-80%),TAS,,,,"[PMID:18435799, PMID:22993869]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0000802,Impotence,Very frequent (99-80%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0000989,Pruritus,Excluded (0%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0002574,Episodic abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0003418,Back pain,Very frequent (99-80%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0003474,Somatic sensory dysfunction,Excluded (0%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0007379,Neoplasm of the genitourinary tract,Excluded (0%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0010787,Genital neoplasm,Excluded (0%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0011848,Abdominal colic,Very frequent (99-80%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0030016,Dyspareunia,Very frequent (99-80%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0030155,Scrotal pain,Very frequent (99-80%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0030439,Anal canal adenocarcinoma,Excluded (0%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0030943,Vulvodynia,Very frequent (99-80%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0100515,Pollakisuria,Very frequent (99-80%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0100518,Dysuria,Very frequent (99-80%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0100785,Insomnia,Excluded (0%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010713,Orphanet,60039,ORPHA:60039,18,HP:0410019,Epigastric pain,Excluded (0%),TAS,,,,"[PMID:17828787, PMID:22110274, PMID:24716710]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0000750,Delayed speech and language development,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0000766,Abnormal sternum morphology,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0000787,Nephrolithiasis,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0000997,Axillary freckling,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0001012,Multiple lipomas,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0001067,Neurofibromas,Excluded (0%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0001114,Xanthelasma,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0001252,Hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0001270,Motor delay,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0001332,Dystonia,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0001634,Mitral valve prolapse,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0001642,Pulmonic stenosis,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0002667,Nephroblastoma,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0004209,Clinodactyly of the 5th finger,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0004845,Acute monocytic leukemia,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0006671,Paroxysmal atrial tachycardia,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0007018,Attention deficit hyperactivity disorder,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0007099,Chiari type I malformation,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0007565,Multiple cafe-au-lait spots,Very frequent (99-80%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0009588,Vestibular schwannoma,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0009734,Optic nerve glioma,Excluded (0%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0009737,Lisch nodules,Excluded (0%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0010442,Polydactyly,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0030052,Inguinal freckling,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0030358,Non-small cell lung carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0032077,Male urethral meatus stenosis,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0100006,Neoplasm of the central nervous system,Excluded (0%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0100245,Desmoid tumors,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0100252,Diaphyseal dysplasia,Excluded (0%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0100615,Ovarian neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010714,Orphanet,137605,ORPHA:137605,42,HP:0410263,Brain imaging abnormality,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:20945555]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0001337,Tremor,Very rare (<4-1%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0001347,Hyperreflexia,Very rare (<4-1%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0002063,Rigidity,Very rare (<4-1%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0002119,Ventriculomegaly,Very rare (<4-1%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0002307,Drooling,Very rare (<4-1%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0002313,Spastic paraparesis,Very rare (<4-1%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0002579,Gastrointestinal dysmotility,Very rare (<4-1%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0004925,Chronic lactic acidosis,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0006892,Frontotemporal cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0007030,Nonprogressive encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0007042,Focal white matter lesions,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0008897,Postnatal growth retardation,Very rare (<4-1%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0011470,Nasogastric tube feeding in infancy,Very rare (<4-1%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0012073,Abnormal urinary acylglycine profile,Very frequent (99-80%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0012433,Abnormal social behavior,Occasional (29-5%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010716,Orphanet,391417,ORPHA:391417,37,HP:0040155,Elevated urinary 3-hydroxybutyric acid,Frequent (79-30%),TAS,,,,"[PMID:11102558, PMID:12555940, PMID:14729408, PMID:16148061, PMID:22132097, PMID:26950678, PMID:27295195]",y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0000179,Thick lower lip vermilion,Occasional (29-5%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0000465,Webbed neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0001642,Pulmonic stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0002002,Deep philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0005108,Abnormal intervertebral disk morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0009811,Abnormality of the elbow,Occasional (29-5%),TAS,,,,,y,y +GARD:0010719,Orphanet,2701,ORPHA:2701,29,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000073,Ureteral duplication,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000075,Renal duplication,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000189,Narrow palate,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000396,Overfolded helix,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0002948,Vertebral fusion,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0008499,High hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0009928,Thick nasal alae,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0010719,Abnormality of hair texture,Frequent (79-30%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010727,Orphanet,96169,ORPHA:96169,60,HP:0100025,Overfriendliness,Very frequent (99-80%),TAS,,,,"[PMID:19447831, PMID:20301783]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0000708,Behavioral abnormality,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0000716,Depression,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001081,Cholelithiasis,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001317,Abnormal cerebellum morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001328,Specific learning disability,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001394,Cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001410,Decreased liver function,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001654,Abnormal heart valve morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001677,Coronary artery atherosclerosis,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001892,Abnormal bleeding,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001971,Hypersplenism,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0001973,Autoimmune thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0002121,Generalized non-motor (absence) seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0002186,Apraxia,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0002725,Systemic lupus erythematosus,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0002756,Pathologic fracture,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0002896,Neoplasm of the liver,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0003119,Abnormal circulating lipid concentration,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0003141,Increased LDL cholesterol concentration,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0003233,Decreased HDL cholesterol concentration,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0004836,Acute promyelocytic leukemia,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0006520,Progressive pulmonary function impairment,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0006530,Abnormal pulmonary interstitial morphology,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0007018,Attention deficit hyperactivity disorder,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0007302,Bipolar affective disorder,Very rare (<4-1%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0010729,Cherry red spot of the macula,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0012415,Abnormal blood gas level,Frequent (79-30%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010729,Orphanet,77293,ORPHA:77293,46,HP:0030353,Decreased serum insulin-like growth factor 1,Occasional (29-5%),TAS,,,,"[PMID:20301544, PMID:23412609]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0001560,Abnormality of the amniotic fluid,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0002133,Status epilepticus,Very frequent (99-80%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0002283,Global brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0003785,Decreased CSF homovanillic acid concentration,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0005522,Pyridoxine-responsive sideroblastic anemia,Occasional (29-5%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0005961,Hypoargininemia,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0010851,EEG with burst suppression,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0010895,Abnormal circulating glycine concentration,Occasional (29-5%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0010900,Abnormal circulating threonine concentration,Occasional (29-5%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0010904,Abnormal circulating histidine concentration,Occasional (29-5%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0010909,Abnormal circulating arginine concentration,Occasional (29-5%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0010917,Abnormal circulating tyrosine concentration,Occasional (29-5%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0025430,High-pitched cry,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0030917,Low APGAR score,Frequent (79-30%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010730,Orphanet,79096,ORPHA:79096,29,HP:0200134,Epileptic encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:12200739, PMID:12747882, PMID:24645144, PMID:24658933]",y,y +GARD:0010738,Orphanet,93600,ORPHA:93600,9,HP:0000121,Nephrocalcinosis,Very frequent (99-80%),TAS,,,,[PMID:26401545],y,y +GARD:0010738,Orphanet,93600,ORPHA:93600,9,HP:0000790,Hematuria,Very frequent (99-80%),TAS,,,,[PMID:26401545],y,y +GARD:0010738,Orphanet,93600,ORPHA:93600,9,HP:0003110,Abnormality of urine homeostasis,Very frequent (99-80%),TAS,,,,[PMID:26401545],y,y +GARD:0010738,Orphanet,93600,ORPHA:93600,9,HP:0003159,Hyperoxaluria,Very frequent (99-80%),TAS,,,,[PMID:26401545],y,y +GARD:0010738,Orphanet,93600,ORPHA:93600,9,HP:0008672,Calcium oxalate nephrolithiasis,Very frequent (99-80%),TAS,,,,[PMID:26401545],y,y +GARD:0010738,Orphanet,93600,ORPHA:93600,9,HP:0012211,Abnormal renal physiology,Very frequent (99-80%),TAS,,,,[PMID:26401545],y,y +GARD:0010738,Orphanet,93600,ORPHA:93600,9,HP:0012531,Pain,Very frequent (99-80%),TAS,,,,[PMID:26401545],y,y +GARD:0010738,Orphanet,93600,ORPHA:93600,9,HP:0100515,Pollakisuria,Very frequent (99-80%),TAS,,,,[PMID:26401545],y,y +GARD:0010738,Orphanet,93600,ORPHA:93600,9,HP:0100518,Dysuria,Very frequent (99-80%),TAS,,,,[PMID:26401545],y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000003,Multicystic kidney dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000735,Impaired social interactions,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000776,Congenital diaphragmatic hernia,Very rare (<4-1%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0000902,Rib fusion,Very rare (<4-1%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001161,Hand polydactyly,Very rare (<4-1%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001363,Craniosynostosis,Very rare (<4-1%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001646,Abnormal aortic valve morphology,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001651,Dextrocardia,Very rare (<4-1%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0002021,Pyloric stenosis,Very rare (<4-1%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0002280,Enlarged cisterna magna,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0002691,Platybasia,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0003396,Syringomyelia,Very rare (<4-1%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0006863,Severe expressive language delay,Frequent (79-30%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0007099,Chiari type I malformation,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0007166,Paroxysmal dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0011351,Moderate receptive language delay,Frequent (79-30%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0100702,Arachnoid cyst,Occasional (29-5%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010740,Orphanet,261197,ORPHA:261197,52,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:19914906, PMID:20301775, PMID:29636920]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0000925,Abnormality of the vertebral column,Frequent (79-30%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0002812,Coxa vara,Occasional (29-5%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0002815,Abnormality of the knee,Occasional (29-5%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0002938,Lumbar hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0003179,Protrusio acetabuli,Frequent (79-30%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0003273,Hip contracture,Frequent (79-30%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0003365,Arthralgia of the hip,Very frequent (99-80%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0003510,Severe short stature,Occasional (29-5%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0003521,Disproportionate short-trunk short stature,Frequent (79-30%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0004026,Broad radial metaphysis,Occasional (29-5%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0004594,Hump-shaped mound of bone in central and posterior portions of vertebral endplate,Frequent (79-30%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0005108,Abnormal intervertebral disk morphology,Occasional (29-5%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0006387,Wide distal femoral metaphysis,Occasional (29-5%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0006429,Broad femoral neck,Occasional (29-5%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0008800,Limited hip movement,Very frequent (99-80%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0008812,Flattened femoral head,Occasional (29-5%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0008843,Hip osteoarthritis,Very frequent (99-80%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0010575,Dysplasia of the femoral head,Frequent (79-30%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0030043,Hip subluxation,Frequent (79-30%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0030839,Knee pain,Occasional (29-5%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010741,Orphanet,99642,ORPHA:99642,29,HP:0100864,Short femoral neck,Occasional (29-5%),TAS,,,,"[PMID:20607037, PMID:22116201, PMID:9375727]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0000695,Natal tooth,Occasional (29-5%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0001596,Alopecia,Very rare (<4-1%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0001609,Hoarse voice,Very rare (<4-1%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0001818,Paronychia,Occasional (29-5%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0002098,Respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0002745,Oral leukoplakia,Frequent (79-30%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0006288,Advanced eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0007410,Palmoplantar hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0007446,Palmoplantar blistering,Very frequent (99-80%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0007490,Linear arrays of macular hyperkeratoses in flexural areas,Frequent (79-30%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0007502,Follicular hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0008401,Onychogryposis of toenails,Very frequent (99-80%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0010765,Palmar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0012035,Steatocystoma multiplex,Frequent (79-30%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0012514,Lower limb pain,Very frequent (99-80%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0025245,Cutaneous cyst,Frequent (79-30%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0025248,Eruptive vellus hair cyst,Occasional (29-5%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0030268,Hyperplastic callus formation,Very frequent (99-80%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0030318,Angular cheilitis,Very rare (<4-1%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0030766,Ear pain,Occasional (29-5%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0040036,Onychogryposis of fingernail,Frequent (79-30%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0100798,Fingernail dysplasia,Frequent (79-30%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010753,Orphanet,2309,ORPHA:2309,27,HP:0200040,Epidermoid cyst,Frequent (79-30%),TAS,,,,"[PMID:20301457, PMID:23056978]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000079,Abnormality of the urinary system,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000189,Narrow palate,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000388,Otitis media,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000539,Abnormality of refraction,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000589,Coloboma,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000695,Natal tooth,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000735,Impaired social interactions,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000756,Agoraphobia,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0000932,Abnormal posterior cranial fossa morphology,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001642,Pulmonic stenosis,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001647,Bicuspid aortic valve,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001650,Aortic valve stenosis,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001680,Coarctation of aorta,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0002099,Asthma,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0002341,Cervical cord compression,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0002566,Intestinal malrotation,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0002858,Meningioma,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0003319,Abnormality of the cervical spine,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0003396,Syringomyelia,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0005363,Humoral immunodeficiency,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0005374,Cellular immunodeficiency,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0005484,Secondary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0007086,Social and occupational deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0009765,Low hanging columella,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0009834,Abnormal proximal phalanx morphology of the hand,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0009836,Broad distal phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0010055,Broad hallux,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0010302,Spinal cord tumor,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0010562,Keloids,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0010674,Abnormality of the curvature of the vertebral column,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0010775,Vascular ring,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0011087,Talon cusp,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0025269,Panic attack,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0030434,Pilomatrixoma,Very rare (<4-1%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0031546,Cardiac conduction abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0100710,Impulsivity,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010754,Orphanet,353281,ORPHA:353281,88,HP:0100852,Abnormal fear/anxiety-related behavior,Frequent (79-30%),TAS,,,,"[PMID:20301699, PMID:25599811]",y,y +GARD:0010762,Orphanet,289601,ORPHA:289601,7,HP:0001717,Coronary artery calcification,Occasional (29-5%),TAS,,,,[PMID:21288095],y,y +GARD:0010762,Orphanet,289601,ORPHA:289601,7,HP:0003207,Arterial calcification,Very frequent (99-80%),TAS,,,,[PMID:21288095],y,y +GARD:0010762,Orphanet,289601,ORPHA:289601,7,HP:0005116,Arterial tortuosity,Occasional (29-5%),TAS,,,,[PMID:21288095],y,y +GARD:0010762,Orphanet,289601,ORPHA:289601,7,HP:0011025,Abnormal cardiovascular system physiology,Very frequent (99-80%),TAS,,,,[PMID:21288095],y,y +GARD:0010762,Orphanet,289601,ORPHA:289601,7,HP:0012101,Decreased serum creatinine,Frequent (79-30%),TAS,,,,[PMID:21288095],y,y +GARD:0010762,Orphanet,289601,ORPHA:289601,7,HP:0025015,Abnormal vascular morphology,Very frequent (99-80%),TAS,,,,[PMID:21288095],y,y +GARD:0010762,Orphanet,289601,ORPHA:289601,7,HP:0025324,Arterial occlusion,Very frequent (99-80%),TAS,,,,[PMID:21288095],y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0000132,Menorrhagia,Occasional (29-5%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0001058,Poor wound healing,Occasional (29-5%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0001342,Cerebral hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0001933,Subcutaneous hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0001934,Persistent bleeding after trauma,Occasional (29-5%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0002037,Inflammation of the large intestine,Very rare (<4-1%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0004846,Prolonged bleeding after surgery,Occasional (29-5%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0005261,Joint hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0006298,Prolonged bleeding after dental extraction,Occasional (29-5%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0007420,Spontaneous hematomas,Frequent (79-30%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0008357,Reduced factor XIII activity,Very frequent (99-80%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0011884,Abnormal umbilical stump bleeding,Very frequent (99-80%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0011889,Bleeding with minor or no trauma,Occasional (29-5%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0011891,Post-partum hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0012233,Intramuscular hematoma,Frequent (79-30%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0012324,Myeloid leukemia,Very rare (<4-1%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0030137,Prolonged bleeding following circumcision,Occasional (29-5%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0030140,Oral cavity bleeding,Frequent (79-30%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0030657,Umbilical cord hematoma,Very frequent (99-80%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0031364,Ecchymosis,Occasional (29-5%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0040232,Delayed onset bleeding,Occasional (29-5%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010766,Orphanet,331,ORPHA:331,26,HP:0200067,Recurrent spontaneous abortion,Occasional (29-5%),TAS,,,,"[PMID:27344554, PMID:27405678, PMID:27642336, PMID:29027765]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0000034,Hydrocele testis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0000269,Prominent occiput,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0000649,Abnormality of visual evoked potentials,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0002286,Fair hair,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0002720,Decreased circulating IgA level,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0002791,Hypoventilation,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0002850,Decreased circulating total IgM,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0002943,Thoracic scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0003241,External genital hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0004315,Decreased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0004463,Absent brainstem auditory responses,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0007430,Generalized edema,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0010557,Overlapping fingers,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0012450,Chronic constipation,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0020110,Bone fracture,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0031218,Inappropriate antidiuretic hormone secretion,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010767,Orphanet,79330,ORPHA:79330,44,HP:0100598,Pulmonary edema,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:29235540, PMID:33058492]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0000575,Scotoma,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0001308,Tongue fasciculations,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0002077,Migraine with aura,Very frequent (99-80%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0002133,Status epilepticus,Very rare (<4-1%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0002181,Cerebral edema,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0002357,Dysphasia,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0003392,First dorsal interossei muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0007209,Facial paralysis,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0007979,Gaze-evoked horizontal nystagmus,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0008959,Distal upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0010544,Vertical nystagmus,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0010833,Spontaneous pain sensation,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0010835,Dissociated sensory loss,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0011153,Focal motor seizure,Very frequent (99-80%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0011157,Focal sensory seizure,Very frequent (99-80%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0011172,Complex febrile seizure,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0011196,EEG with focal sharp waves,Very rare (<4-1%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0011199,EEG with generalized sharp slow waves,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0011468,Facial tics,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0012044,Seesaw nystagmus,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0012229,CSF pleocytosis,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0012508,Metamorphopsia,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0030786,Photopsia,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0031179,Nuchal rigidity,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0032044,Decreased vigilance,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0032506,Alien limb phenomenon,Occasional (29-5%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0100576,Amaurosis fugax,Very rare (<4-1%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010768,Orphanet,569,ORPHA:569,48,HP:0200149,CSF lymphocytic pleiocytosis,Frequent (79-30%),TAS,,,,"[PMID:21458376, PMID:29334453, PMID:29343472]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0000467,Neck muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0001430,Abnormality of the calf musculature,Frequent (79-30%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0003323,Progressive muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0003458,EMG: myopathic abnormalities,Occasional (29-5%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0003789,Minicore myopathy,Frequent (79-30%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0003803,Type 1 muscle fiber predominance,Frequent (79-30%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0003805,Rimmed vacuoles,Excluded (0%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0004696,Talipes cavus equinovarus,Frequent (79-30%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0008316,Abnormal mitochondria in muscle tissue,Frequent (79-30%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0008994,Proximal muscle weakness in lower limbs,Occasional (29-5%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0009027,Foot dorsiflexor weakness,Very frequent (99-80%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0011916,Toe extensor amyotrophy,Very frequent (99-80%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010769,Orphanet,59135,ORPHA:59135,20,HP:0012507,Weakness of orbicularis oculi muscle,Frequent (79-30%),TAS,,,,"[PMID:12975303, PMID:20733148, PMID:7847377]",y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000008,Abnormal morphology of female internal genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000458,Anosmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000551,Color vision defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000786,Primary amenorrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0000830,Anterior hypopituitarism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0001335,Bimanual synkinesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0003164,Hypothalamic gonadotropin-releasing hormone deficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0003187,Breast hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0004409,Hyposmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0009804,Tooth agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0010550,Paraplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0030016,Dyspareunia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010771,Orphanet,478,ORPHA:478,44,HP:0100639,Erectile dysfunction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0000269,Prominent occiput,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0000331,Short chin,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0000821,Hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0001433,Hepatosplenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0001531,Failure to thrive in infancy,Very frequent (99-80%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0001904,Neutropenia in presence of anti-neutropil antibodies,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0001971,Hypersplenism,Frequent (79-30%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0002242,Abnormal intestine morphology,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0003262,Smooth muscle antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0003453,Antineutrophil antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0004482,Relative macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0006528,Chronic lung disease,Very frequent (99-80%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0006554,Acute hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0011471,Gastrostomy tube feeding in infancy,Frequent (79-30%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0012115,Hepatitis,Frequent (79-30%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0025329,Anti-glutamic acid decarboxylase antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0025379,Anti-thyroid peroxidase antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0030151,Cholangitis,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0031104,Insulin receptor antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0100646,Thyroiditis,Frequent (79-30%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010775,Orphanet,228426,ORPHA:228426,38,HP:0100651,Type I diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20170897, PMID:30705142]",y,y +GARD:0010777,Orphanet,168816,ORPHA:168816,9,HP:0000132,Menorrhagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010777,Orphanet,168816,ORPHA:168816,9,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0010777,Orphanet,168816,ORPHA:168816,9,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010777,Orphanet,168816,ORPHA:168816,9,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010777,Orphanet,168816,ORPHA:168816,9,HP:0002586,Peritonitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010777,Orphanet,168816,ORPHA:168816,9,HP:0002664,Neoplasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010777,Orphanet,168816,ORPHA:168816,9,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010777,Orphanet,168816,ORPHA:168816,9,HP:0030016,Dyspareunia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010777,Orphanet,168816,ORPHA:168816,9,HP:0100608,Metrorrhagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000162,Glossoptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000204,Cleft upper lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000483,Astigmatism,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000541,Retinal detachment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0000940,Abnormal diaphysis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0001083,Ectopia lentis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0001519,Disproportionate tall stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0001533,Slender build,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0001634,Mitral valve prolapse,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0003179,Protrusio acetabuli,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0003416,Spinal canal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0004327,Abnormal vitreous humor morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0006288,Advanced eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0009804,Tooth agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0010290,Short hard palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0010807,Open bite,Occasional (29-5%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010782,Orphanet,828,ORPHA:828,67,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010783,Orphanet,208444,ORPHA:208444,11,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:10588102, PMID:10690985, PMID:17545827]",y,y +GARD:0010783,Orphanet,208444,ORPHA:208444,11,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:10588102, PMID:10690985, PMID:17545827]",y,y +GARD:0010783,Orphanet,208444,ORPHA:208444,11,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10588102, PMID:10690985, PMID:17545827]",y,y +GARD:0010783,Orphanet,208444,ORPHA:208444,11,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:10588102, PMID:10690985, PMID:17545827]",y,y +GARD:0010783,Orphanet,208444,ORPHA:208444,11,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:10588102, PMID:10690985, PMID:17545827]",y,y +GARD:0010783,Orphanet,208444,ORPHA:208444,11,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:10588102, PMID:10690985, PMID:17545827]",y,y +GARD:0010783,Orphanet,208444,ORPHA:208444,11,HP:0001285,Spastic tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:10588102, PMID:10690985, PMID:17545827]",y,y +GARD:0010783,Orphanet,208444,ORPHA:208444,11,HP:0002200,Pseudobulbar signs,Excluded (0%),TAS,,,,"[PMID:10588102, PMID:10690985, PMID:17545827]",y,y +GARD:0010783,Orphanet,208444,ORPHA:208444,11,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,"[PMID:10588102, PMID:10690985, PMID:17545827]",y,y +GARD:0010783,Orphanet,208444,ORPHA:208444,11,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:10588102, PMID:10690985, PMID:17545827]",y,y +GARD:0010783,Orphanet,208444,ORPHA:208444,11,HP:0006801,Hyperactive deep tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:10588102, PMID:10690985, PMID:17545827]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0002141,Gait imbalance,Frequent (79-30%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0002365,Hypoplasia of the brainstem,Occasional (29-5%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0002463,Language impairment,Frequent (79-30%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0002539,Cortical dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0007033,Cerebellar dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0007266,Cerebral dysmyelination,Very frequent (99-80%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0011147,Typical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0012110,Hypoplasia of the pons,Frequent (79-30%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0025190,Bilateral tonic-clonic seizure with generalized onset,Frequent (79-30%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010784,Orphanet,101070,ORPHA:101070,24,HP:0040194,Increased head circumference,Occasional (29-5%),TAS,,,,"[PMID:12730993, PMID:20331704]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0000951,Abnormality of the skin,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0001345,Psychotic mentation,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0002194,Delayed gross motor development,Very frequent (99-80%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0002367,Visual hallucinations,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0002539,Cortical dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0007024,Pseudobulbar paralysis,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0008765,Auditory hallucinations,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0010862,Delayed fine motor development,Very frequent (99-80%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0011297,Abnormal digit morphology,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0031258,Delirium,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0031589,Suicidal ideation,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010785,Orphanet,208441,ORPHA:208441,29,HP:0100852,Abnormal fear/anxiety-related behavior,Occasional (29-5%),TAS,,,,"[PMID:20403963, PMID:24598713]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0002187,"Intellectual disability, profound",Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0002194,Delayed gross motor development,Very frequent (99-80%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0002300,Mutism,Frequent (79-30%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0002376,Developmental regression,Very rare (<4-1%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0002510,Spastic tetraplegia,Frequent (79-30%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0005216,Impaired mastication,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0007166,Paroxysmal dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0007204,Diffuse white matter abnormalities,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0007824,Total ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0010553,Oculogyric crisis,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0010818,Generalized tonic seizure,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0010821,Focal emotional seizure with laughing,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0011147,Typical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0011153,Focal motor seizure,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0012736,Profound global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0025097,Eyelid myoclonus,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0025100,Abnormal hippocampus morphology,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0025517,Hypoplastic hippocampus,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0031936,Delayed ability to walk,Very frequent (99-80%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010786,Orphanet,208447,ORPHA:208447,51,HP:0200136,Oral-pharyngeal dysphagia,Occasional (29-5%),TAS,,,,"[PMID:29365063, PMID:31219694]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0000098,Tall stature,Frequent (79-30%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0000963,Thin skin,Occasional (29-5%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0000987,Atypical scarring of skin,Frequent (79-30%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0001065,Striae distensae,Frequent (79-30%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0001643,Patent ductus arteriosus,Very frequent (99-80%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0001695,Cardiac arrest,Occasional (29-5%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0002617,Vascular dilatation,Very frequent (99-80%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0002647,Aortic dissection,Very frequent (99-80%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0004942,Aortic aneurysm,Very frequent (99-80%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0005116,Arterial tortuosity,Very frequent (99-80%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0005294,Arterial dissection,Very frequent (99-80%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010788,Orphanet,60030,ORPHA:60030,30,HP:0100718,Uterine rupture,Very frequent (99-80%),TAS,,,,"[PMID:16928994, PMID:8287183]",y,y +GARD:0010790,Orphanet,1872,ORPHA:1872,5,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010790,Orphanet,1872,ORPHA:1872,5,HP:0000551,Color vision defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0010790,Orphanet,1872,ORPHA:1872,5,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010790,Orphanet,1872,ORPHA:1872,5,HP:0000662,Nyctalopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010790,Orphanet,1872,ORPHA:1872,5,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010792,Orphanet,100069,ORPHA:100069,10,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:16317259, PMID:29213413]",y,y +GARD:0010792,Orphanet,100069,ORPHA:100069,10,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:16317259, PMID:29213413]",y,y +GARD:0010792,Orphanet,100069,ORPHA:100069,10,HP:0002381,Aphasia,Very frequent (99-80%),TAS,,,,"[PMID:16317259, PMID:29213413]",y,y +GARD:0010792,Orphanet,100069,ORPHA:100069,10,HP:0010522,Dyslexia,Frequent (79-30%),TAS,,,,"[PMID:16317259, PMID:29213413]",y,y +GARD:0010792,Orphanet,100069,ORPHA:100069,10,HP:0010523,Alexia,Frequent (79-30%),TAS,,,,"[PMID:16317259, PMID:29213413]",y,y +GARD:0010792,Orphanet,100069,ORPHA:100069,10,HP:0010526,Dysgraphia,Frequent (79-30%),TAS,,,,"[PMID:16317259, PMID:29213413]",y,y +GARD:0010792,Orphanet,100069,ORPHA:100069,10,HP:0012444,Brain atrophy,Very frequent (99-80%),TAS,,,,"[PMID:16317259, PMID:29213413]",y,y +GARD:0010792,Orphanet,100069,ORPHA:100069,10,HP:0012671,Abulia,Frequent (79-30%),TAS,,,,"[PMID:16317259, PMID:29213413]",y,y +GARD:0010792,Orphanet,100069,ORPHA:100069,10,HP:0030222,Visual agnosia,Very frequent (99-80%),TAS,,,,"[PMID:16317259, PMID:29213413]",y,y +GARD:0010792,Orphanet,100069,ORPHA:100069,10,HP:0030784,Anomic aphasia,Very frequent (99-80%),TAS,,,,"[PMID:16317259, PMID:29213413]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0000474,Thickened nuchal skin fold,Very frequent (99-80%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0000711,Restlessness,Occasional (29-5%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0000751,Personality changes,Occasional (29-5%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0001297,Stroke,Excluded (0%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0002145,Frontotemporal dementia,Very frequent (99-80%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0002185,Neurofibrillary tangles,Excluded (0%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0002186,Apraxia,Frequent (79-30%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0002366,Abnormal lower motor neuron morphology,Occasional (29-5%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0002381,Aphasia,Very frequent (99-80%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0002427,Expressive aphasia,Occasional (29-5%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0002446,Astrocytosis,Occasional (29-5%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0006892,Frontotemporal cerebral atrophy,Very frequent (99-80%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0006977,Grammar-specific speech disorder,Very frequent (99-80%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0007112,Temporal cortical atrophy,Very frequent (99-80%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0010523,Alexia,Frequent (79-30%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0010526,Dysgraphia,Occasional (29-5%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0011204,EEG with continuous slow activity,Frequent (79-30%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0012658,Abnormal brain FDG positron emission tomography,Frequent (79-30%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0030223,Perseveration,Occasional (29-5%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0030391,Spoken word recognition deficit,Very frequent (99-80%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0030692,Brain neoplasm,Excluded (0%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0100256,Senile plaques,Occasional (29-5%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010793,Orphanet,100070,ORPHA:100070,33,HP:0100315,Lewy bodies,Excluded (0%),TAS,,,,"[PMID:11310619, PMID:22608668, PMID:7114808]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0000616,Miosis,Occasional (29-5%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0002076,Migraine,Very frequent (99-80%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0002183,Phonophobia,Frequent (79-30%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0002331,Recurrent paroxysmal headache,Very frequent (99-80%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0009926,Epiphora,Frequent (79-30%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0011161,Focal sensory seizure with olfactory features,Occasional (29-5%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0012199,Cluster headache,Excluded (0%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0012384,Rhinitis,Frequent (79-30%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0012452,Restless legs,Occasional (29-5%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0025258,Stiff neck,Occasional (29-5%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0030833,Neck pain,Occasional (29-5%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0030953,Conjunctival hyperemia,Frequent (79-30%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0031284,Flushing,Frequent (79-30%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0031417,Rhinorrhea,Frequent (79-30%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0100540,Palpebral edema,Occasional (29-5%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010794,Orphanet,157835,ORPHA:157835,21,HP:0100661,Trigeminal neuralgia,Excluded (0%),TAS,,,,"[PMID:23566235, PMID:24523000]",y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0000389,Chronic otitis media,Occasional (29-5%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0000656,Ectropion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0001019,Erythroderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0011039,Abnormal helix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0100679,Lack of skin elasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010803,Orphanet,313,ORPHA:313,21,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010805,Orphanet,247798,ORPHA:247798,7,HP:0005227,Adenomatous colonic polyposis,Frequent (79-30%),TAS,,,,[PMID:12606733],y,y +GARD:0010805,Orphanet,247798,ORPHA:247798,7,HP:0007649,Congenital hypertrophy of retinal pigment epithelium,Very rare (<4-1%),TAS,,,,[PMID:12606733],y,y +GARD:0010805,Orphanet,247798,ORPHA:247798,7,HP:0030255,Large intestinal polyposis,Frequent (79-30%),TAS,,,,[PMID:12606733],y,y +GARD:0010805,Orphanet,247798,ORPHA:247798,7,HP:0040276,Adenocarcinoma of the colon,Frequent (79-30%),TAS,,,,[PMID:12606733],y,y +GARD:0010805,Orphanet,247798,ORPHA:247798,7,HP:0100245,Desmoid tumors,Excluded (0%),TAS,,,,[PMID:12606733],y,y +GARD:0010805,Orphanet,247798,ORPHA:247798,7,HP:0100896,Rectal polyposis,Frequent (79-30%),TAS,,,,[PMID:12606733],y,y +GARD:0010805,Orphanet,247798,ORPHA:247798,7,HP:0200063,Colorectal polyposis,Very frequent (99-80%),TAS,,,,[PMID:12606733],y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0000709,Psychosis,Very rare (<4-1%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0002133,Status epilepticus,Frequent (79-30%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0002187,"Intellectual disability, profound",Occasional (29-5%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Very frequent (99-80%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0007270,Atypical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0010818,Generalized tonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0011169,Generalized clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0011172,Complex febrile seizure,Occasional (29-5%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0012433,Abnormal social behavior,Frequent (79-30%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010806,Orphanet,101039,ORPHA:101039,29,HP:0100738,Abnormal eating behavior,Very rare (<4-1%),TAS,,,,"[PMID:20830798, PMID:25204757, PMID:29892053]",y,y +GARD:0010808,Orphanet,411593,ORPHA:411593,13,HP:0000825,Hyperinsulinemic hypoglycemia,Obligate (100%),TAS,,,,"[PMID:22275456, PMID:24111525, PMID:25390580]",y,y +GARD:0010808,Orphanet,411593,ORPHA:411593,13,HP:0000831,Insulin-resistant diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:22275456, PMID:24111525, PMID:25390580]",y,y +GARD:0010808,Orphanet,411593,ORPHA:411593,13,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,"[PMID:22275456, PMID:24111525, PMID:25390580]",y,y +GARD:0010808,Orphanet,411593,ORPHA:411593,13,HP:0000956,Acanthosis nigricans,Frequent (79-30%),TAS,,,,"[PMID:22275456, PMID:24111525, PMID:25390580]",y,y +GARD:0010808,Orphanet,411593,ORPHA:411593,13,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:22275456, PMID:24111525, PMID:25390580]",y,y +GARD:0010808,Orphanet,411593,ORPHA:411593,13,HP:0001958,Nonketotic hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:22275456, PMID:24111525, PMID:25390580]",y,y +GARD:0010808,Orphanet,411593,ORPHA:411593,13,HP:0002725,Systemic lupus erythematosus,Very frequent (99-80%),TAS,,,,"[PMID:22275456, PMID:24111525, PMID:25390580]",y,y +GARD:0010808,Orphanet,411593,ORPHA:411593,13,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:22275456, PMID:24111525, PMID:25390580]",y,y +GARD:0010808,Orphanet,411593,ORPHA:411593,13,HP:0003162,Fasting hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:22275456, PMID:24111525, PMID:25390580]",y,y +GARD:0010808,Orphanet,411593,ORPHA:411593,13,HP:0005059,Arthralgia/arthritis,Frequent (79-30%),TAS,,,,"[PMID:22275456, PMID:24111525, PMID:25390580]",y,y +GARD:0010808,Orphanet,411593,ORPHA:411593,13,HP:0010702,Increased circulating antibody level,Very frequent (99-80%),TAS,,,,"[PMID:22275456, PMID:24111525, PMID:25390580]",y,y +GARD:0010808,Orphanet,411593,ORPHA:411593,13,HP:0012051,Reactive hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:22275456, PMID:24111525, PMID:25390580]",y,y +GARD:0010808,Orphanet,411593,ORPHA:411593,13,HP:0030057,Autoimmune antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:22275456, PMID:24111525, PMID:25390580]",y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0000217,Xerostomia,Occasional (29-5%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0000366,Abnormality of the nose,Frequent (79-30%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0000716,Depression,Occasional (29-5%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0001945,Fever,Frequent (79-30%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0002315,Headache,Frequent (79-30%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0003552,Muscle stiffness,Occasional (29-5%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0011446,Abnormality of higher mental function,Very frequent (99-80%),TAS,,,,[PMID:21241453],y,y +GARD:0010809,Orphanet,279947,ORPHA:279947,18,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,[PMID:21241453],y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0000605,Supranuclear gaze palsy,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0000666,Horizontal nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0000716,Depression,Very rare (<4-1%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0000739,Anxiety,Very rare (<4-1%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0001123,Visual field defect,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0002425,Anarthria,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0002427,Expressive aphasia,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0002478,Progressive spastic quadriplegia,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0002505,Loss of ambulation,Very frequent (99-80%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0002527,Falls,Very frequent (99-80%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0006827,Atrophy of the spinal cord,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0006957,Loss of ability to walk,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0007153,Progressive extrapyramidal movement disorder,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0007199,Progressive spastic paraparesis,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0007240,Progressive gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0007302,Bipolar affective disorder,Very rare (<4-1%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0007325,Generalized dystonia,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0007924,Slow decrease in visual acuity,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0009830,Peripheral neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010810,Orphanet,329308,ORPHA:329308,32,HP:0030584,Color vision test abnormality,Frequent (79-30%),TAS,,,,"[PMID:20853438, PMID:21735565, PMID:22146942]",y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000716,Depression,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0001829,Foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0008499,High hypermetropia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0010059,Broad hallux phalanx,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0010296,Ankyloglossia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0011611,Interrupted aortic arch,Occasional (29-5%),TAS,,,,,y,y +GARD:0010813,Orphanet,250989,ORPHA:250989,47,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0000016,Urinary retention,Frequent (79-30%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0000597,Ophthalmoparesis,Very rare (<4-1%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0000836,Hyperthyroidism,Obligate (100%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0001663,Ventricular fibrillation,Occasional (29-5%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0001962,Palpitations,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0002153,Hyperkalemia,Very rare (<4-1%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0002203,Respiratory paralysis,Very rare (<4-1%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0002445,Tetraplegia,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0002486,Myotonia,Excluded (0%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0002917,Hypomagnesemia,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0003134,Abnormality of peripheral nerve conduction,Excluded (0%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0003201,Rhabdomyolysis,Frequent (79-30%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0003470,Paralysis,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0003694,Late-onset proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0003752,Episodic flaccid weakness,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0004303,Abnormal muscle fiber morphology,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0005165,Shortened PR interval,Occasional (29-5%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0006670,Impaired myocardial contractility,Excluded (0%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0007340,Lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0008153,Periodic hypokalemic paresis,Obligate (100%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0008180,Mildly elevated creatine kinase,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0008285,Transient hypophosphatemia,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0009020,Exercise-induced muscle fatigue,Frequent (79-30%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0011706,Second degree atrioventricular block,Occasional (29-5%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0011784,Thyrotoxicosis with diffuse goiter,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0011785,Thyrotoxicosis with toxic multinodular goiter,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0011786,Thyrotoxicosis with toxic single thyroid nodule,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0011998,Postprandial hyperglycemia,Frequent (79-30%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0012240,Increased intramyocellular lipid droplets,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0012364,Decreased urinary potassium,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0012726,Episodic hypokalemia,Obligate (100%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010814,Orphanet,79102,ORPHA:79102,42,HP:0100647,Graves disease,Very frequent (99-80%),TAS,,,,"[PMCID:PMC1946359, PMID:13696795, PMID:16467598, PMID:22863731, PMID:22918841, PMID:25566931, PMID:26935888, PMID:5353150, PMID:7092449, PMID:7711509, http://www.ncbi.nlm.nih.gov/books/NBK285567]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0001348,Brisk reflexes,Very frequent (99-80%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0002483,Bulbar signs,Occasional (29-5%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0007350,Hyperreflexia in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0008956,Proximal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0008994,Proximal muscle weakness in lower limbs,Very frequent (99-80%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0010831,Impaired proprioception,Frequent (79-30%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010817,Orphanet,101011,ORPHA:101011,18,HP:0030237,Hand muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:16565863, PMID:19034539]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0001941,Acidosis,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0001993,Ketoacidosis,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0002254,Intermittent diarrhea,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0002912,Methylmalonic acidemia,Very frequent (99-80%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0003215,Dicarboxylic aciduria,Very frequent (99-80%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0011169,Generalized clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0012120,Methylmalonic aciduria,Very frequent (99-80%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0031064,Impaired continence,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0040145,Dicarboxylic acidemia,Very frequent (99-80%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010818,Orphanet,289504,ORPHA:289504,26,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:21785126, PMID:21841779, PMID:9700595]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0000842,Hyperinsulinemia,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0001396,Cholestasis,Frequent (79-30%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0001513,Obesity,Obligate (100%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0002173,Hypoglycemic seizures,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0002297,Red hair,Frequent (79-30%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0002591,Polyphagia,Very frequent (99-80%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0008213,Gonadotropin deficiency,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0008245,Pituitary hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0008915,Childhood-onset truncal obesity,Frequent (79-30%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0009126,Increased adipose tissue,Obligate (100%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010823,Orphanet,71526,ORPHA:71526,18,HP:0011734,Central adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0000725,Psychotic episodes,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0000787,Nephrolithiasis,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0000858,Irregular menstruation,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0000859,Hyperaldosteronism,Very rare (<4-1%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0001050,Plethora,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0001061,Acne,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0001065,Striae distensae,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0001952,Glucose intolerance,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0002858,Meningioma,Very rare (<4-1%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0002893,Pituitary adenoma,Very rare (<4-1%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0002920,Decreased circulating ACTH level,Very frequent (99-80%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0003118,Increased circulating cortisol level,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0003466,Paradoxical increased cortisol secretion on dexamethasone suppression test,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0004324,Increased body weight,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0005584,Renal cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0007126,Proximal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0008200,Primary hyperparathyroidism,Very rare (<4-1%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0008231,Macronodular adrenal hyperplasia,Obligate (100%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0012030,Increased urinary cortisol level,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0012743,Abdominal obesity,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0025383,Dorsocervical fat pad,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0031077,Abnormal response to corticotropin releasing hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0031845,Abnormal libido,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0100634,Neuroendocrine neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0100754,Mania,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010824,Orphanet,189427,ORPHA:189427,39,HP:0500011,Moon facies,Very frequent (99-80%),TAS,,,,"[PMID:25945066, PMID:32053747, PMID:32115357]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0000121,Nephrocalcinosis,Excluded (0%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0000787,Nephrolithiasis,Very rare (<4-1%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0000934,Chondrocalcinosis,Occasional (29-5%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0001733,Pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0002199,Hypocalcemic seizures,Very rare (<4-1%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0002574,Episodic abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0002749,Osteomalacia,Frequent (79-30%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0002918,Hypermagnesemia,Occasional (29-5%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0002960,Autoimmunity,Very rare (<4-1%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0003072,Hypercalcemia,Obligate (100%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0003127,Hypocalciuria,Obligate (100%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0003513,Reduced ratio of renal calcium clearance to creatinine clearance,Very frequent (99-80%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0003529,Parathormone-independent increased renal tubular calcium reabsorption,Very frequent (99-80%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0004398,Peptic ulcer,Occasional (29-5%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0008250,Infantile hypercalcemia,Frequent (79-30%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0008732,Renal hypophosphatemia,Frequent (79-30%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0012032,Lipoma,Very rare (<4-1%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010828,Orphanet,405,ORPHA:405,21,HP:0012609,Hypomagnesiuria,Occasional (29-5%),TAS,,,,"[PMID:1524075, PMID:15269316, PMID:22047572, PMID:23222959, PMID:23802516, PMID:26963950, PMID:4643023, PMID:7311809]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0000121,Nephrocalcinosis,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0000131,Uterine leiomyoma,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0000787,Nephrolithiasis,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0000934,Chondrocalcinosis,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0001959,Polydipsia,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0002148,Hypophosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0002150,Hypercalciuria,Very frequent (99-80%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0002574,Episodic abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0002667,Nephroblastoma,Very rare (<4-1%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0002890,Thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0002897,Parathyroid adenoma,Obligate (100%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0003072,Hypercalcemia,Obligate (100%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0003165,Elevated circulating parathyroid hormone level,Very frequent (99-80%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0004398,Peptic ulcer,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0006725,Pancreatic adenocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0008200,Primary hyperparathyroidism,Obligate (100%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0008250,Infantile hypercalcemia,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0008696,Renal hamartoma,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0010614,Fibroma,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0010788,Testicular neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0011766,Abnormality of the parathyroid morphology,Very frequent (99-80%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0012032,Lipoma,Very rare (<4-1%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0012232,Shortened QT interval,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010829,Orphanet,99880,ORPHA:99880,35,HP:0200025,Mandibular pain,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000452,Choanal stenosis,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000479,Abnormal retinal morphology,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001018,Abnormal palmar dermatoglyphics,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001382,Joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001533,Slender build,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001684,Secundum atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0002370,Poor coordination,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0002720,Decreased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0003413,Atlantoaxial abnormality,Very rare (<4-1%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0004422,Biparietal narrowing,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0005134,Absence of the pulmonary valve,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0005148,Pulmonary valve defects,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0005164,Dysplastic pulmonary valve,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0007204,Diffuse white matter abnormalities,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0008240,Secondary growth hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0008513,Bilateral conductive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0008689,Bilateral cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0009592,Astrocytoma,Very rare (<4-1%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0011596,Left aortic arch with right descending aorta and right ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0012382,Left-to-right shunt,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0012447,Abnormal myelination,Frequent (79-30%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010865,Orphanet,1600,ORPHA:1600,65,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:11134092, PMID:11177369, PMID:15671099, PMID:16100728, PMID:23707655, PMID:26552569, PMID:5507053, PMID:6620023, PMID:7358761, PMID:8488839]",y,y +GARD:0010867,Orphanet,867,ORPHA:867,4,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010867,Orphanet,867,ORPHA:867,4,HP:0002671,Basal cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010867,Orphanet,867,ORPHA:867,4,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0010867,Orphanet,867,ORPHA:867,4,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001789,Hydrops fetalis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0002305,Athetosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0002817,Abnormality of the upper limb,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010870,Orphanet,834,ORPHA:834,30,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0010876,Orphanet,3269,ORPHA:3269,13,HP:0001159,Syndactyly,Very rare (<4-1%),TAS,,,,"[PMID:28828125, PMID:31138930]",y,y +GARD:0010876,Orphanet,3269,ORPHA:3269,13,HP:0001374,Congenital hip dislocation,Very rare (<4-1%),TAS,,,,"[PMID:28828125, PMID:31138930]",y,y +GARD:0010876,Orphanet,3269,ORPHA:3269,13,HP:0001457,Abnormality of the musculature of the upper arm,Occasional (29-5%),TAS,,,,"[PMID:28828125, PMID:31138930]",y,y +GARD:0010876,Orphanet,3269,ORPHA:3269,13,HP:0001762,Talipes equinovarus,Very rare (<4-1%),TAS,,,,"[PMID:28828125, PMID:31138930]",y,y +GARD:0010876,Orphanet,3269,ORPHA:3269,13,HP:0002974,Radioulnar synostosis,Very frequent (99-80%),TAS,,,,"[PMID:28828125, PMID:31138930]",y,y +GARD:0010876,Orphanet,3269,ORPHA:3269,13,HP:0002996,Limited elbow movement,Very frequent (99-80%),TAS,,,,"[PMID:28828125, PMID:31138930]",y,y +GARD:0010876,Orphanet,3269,ORPHA:3269,13,HP:0003083,Dislocated radial head,Occasional (29-5%),TAS,,,,"[PMID:28828125, PMID:31138930]",y,y +GARD:0010876,Orphanet,3269,ORPHA:3269,13,HP:0006394,Limited pronation/supination of forearm,Very frequent (99-80%),TAS,,,,"[PMID:28828125, PMID:31138930]",y,y +GARD:0010876,Orphanet,3269,ORPHA:3269,13,HP:0010442,Polydactyly,Very rare (<4-1%),TAS,,,,"[PMID:28828125, PMID:31138930]",y,y +GARD:0010876,Orphanet,3269,ORPHA:3269,13,HP:0030834,Shoulder pain,Occasional (29-5%),TAS,,,,"[PMID:28828125, PMID:31138930]",y,y +GARD:0010876,Orphanet,3269,ORPHA:3269,13,HP:0030836,Wrist pain,Occasional (29-5%),TAS,,,,"[PMID:28828125, PMID:31138930]",y,y +GARD:0010876,Orphanet,3269,ORPHA:3269,13,HP:0040071,Abnormal morphology of ulna,Very frequent (99-80%),TAS,,,,"[PMID:28828125, PMID:31138930]",y,y +GARD:0010876,Orphanet,3269,ORPHA:3269,13,HP:0045009,Abnormal morphology of the radius,Very frequent (99-80%),TAS,,,,"[PMID:28828125, PMID:31138930]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0000168,Abnormality of the gingiva,Occasional (29-5%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0000230,Gingivitis,Occasional (29-5%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0007470,Periarticular subcutaneous nodules,Very frequent (99-80%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0100249,Calcification of muscles,Very frequent (99-80%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010877,Orphanet,53715,ORPHA:53715,18,HP:0100774,Hyperostosis,Frequent (79-30%),TAS,,,,"[PMID:7171486, PMID:8139834]",y,y +GARD:0010889,Orphanet,73229,ORPHA:73229,5,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,[PMID:26260163],y,y +GARD:0010889,Orphanet,73229,ORPHA:73229,5,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,[PMID:26260163],y,y +GARD:0010889,Orphanet,73229,ORPHA:73229,5,HP:0003394,Muscle spasm,Very frequent (99-80%),TAS,,,,[PMID:26260163],y,y +GARD:0010889,Orphanet,73229,ORPHA:73229,5,HP:0005562,Multiple renal cysts,Very frequent (99-80%),TAS,,,,[PMID:26260163],y,y +GARD:0010889,Orphanet,73229,ORPHA:73229,5,HP:0012841,Retinal vascular tortuosity,Very frequent (99-80%),TAS,,,,[PMID:26260163],y,y +GARD:0010890,Orphanet,141179,ORPHA:141179,12,HP:0001015,Prominent superficial veins,Occasional (29-5%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637]",y,y +GARD:0010890,Orphanet,141179,ORPHA:141179,12,HP:0001028,Hemangioma,Obligate (100%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637]",y,y +GARD:0010890,Orphanet,141179,ORPHA:141179,12,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637]",y,y +GARD:0010890,Orphanet,141179,ORPHA:141179,12,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637]",y,y +GARD:0010890,Orphanet,141179,ORPHA:141179,12,HP:0007466,Midfrontal capillary hemangioma,Frequent (79-30%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637]",y,y +GARD:0010890,Orphanet,141179,ORPHA:141179,12,HP:0007618,Subcutaneous calcification,Frequent (79-30%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637]",y,y +GARD:0010890,Orphanet,141179,ORPHA:141179,12,HP:0012329,Tufted angioma,Excluded (0%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637]",y,y +GARD:0010890,Orphanet,141179,ORPHA:141179,12,HP:0031207,Hepatic hemangioma,Occasional (29-5%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637]",y,y +GARD:0010890,Orphanet,141179,ORPHA:141179,12,HP:0031449,Perineal hemangioma,Frequent (79-30%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637]",y,y +GARD:0010890,Orphanet,141179,ORPHA:141179,12,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637]",y,y +GARD:0010890,Orphanet,141179,ORPHA:141179,12,HP:0100784,Peripheral arteriovenous fistula,Occasional (29-5%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637]",y,y +GARD:0010890,Orphanet,141179,ORPHA:141179,12,HP:0410266,Visceral hemangioma,Occasional (29-5%),TAS,,,,"[PMID:18676554, PMID:27058448, PMID:27540637]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000045,Abnormality of the scrotum,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000940,Abnormal diaphysis morphology,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000943,Dysostosis multiplex,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0000951,Abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001543,Gastroschisis,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002011,Morphological central nervous system abnormality,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002383,Infectious encephalitis,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0004345,Ganglioside accumulation,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0007325,Generalized dystonia,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0008046,Abnormal retinal vascular morphology,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0008166,Decreased beta-galactosidase activity,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0009826,Limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0010729,Cherry red spot of the macula,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0011471,Gastrostomy tube feeding in infancy,Very rare (<4-1%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0011951,Aspiration pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0012523,Oral aversion,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0025013,Decerebrate rigidity,Very rare (<4-1%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0025190,Bilateral tonic-clonic seizure with generalized onset,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0040197,Encephalomalacia,Very rare (<4-1%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0100670,Coarse metaphyseal trabecularization,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0410263,Brain imaging abnormality,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010891,Orphanet,354,ORPHA:354,89,HP:0500049,Retinopathy of prematurity,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:30187681]",y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0000925,Abnormality of the vertebral column,Frequent (79-30%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0001293,Cranial nerve compression,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002145,Frontotemporal dementia,Frequent (79-30%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002442,Dyscalculia,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002450,Abnormal motor neuron morphology,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002460,Distal muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002493,Upper motor neuron dysfunction,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002515,Waddling gait,Very frequent (99-80%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002648,Abnormality of calvarial morphology,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002756,Pathologic fracture,Very rare (<4-1%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002797,Osteolysis,Frequent (79-30%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0002839,Urinary bladder sphincter dysfunction,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0003307,Hyperlordosis,Very frequent (99-80%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0003390,Sensory axonal neuropathy,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0003444,EMG: chronic denervation signs,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0003445,EMG: neuropathic changes,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0003458,EMG: myopathic abnormalities,Very frequent (99-80%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0003557,Increased variability in muscle fiber diameter,Very frequent (99-80%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0003700,Generalized amyotrophy,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0003701,Proximal muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0003805,Rimmed vacuoles,Very frequent (99-80%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0004347,Weakness of muscles of respiration,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0004490,Calvarial hyperostosis,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0007002,Motor axonal neuropathy,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0007354,Amyotrophic lateral sclerosis,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0011314,Abnormality of long bone morphology,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0012083,Ubiquitin-positive cerebral inclusion bodies,Very frequent (99-80%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0012444,Brain atrophy,Frequent (79-30%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0012548,Fatty replacement of skeletal muscle,Occasional (29-5%),TAS,,,,[PMID:20301649],y,y +GARD:0010899,Orphanet,52430,ORPHA:52430,43,HP:0030838,Hip pain,Frequent (79-30%),TAS,,,,[PMID:20301649],y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000008,Abnormal morphology of female internal genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000035,Abnormal testis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000327,Hypoplasia of the maxilla,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000498,Blepharitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000499,Abnormal eyelash morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000534,Abnormal eyebrow morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000600,Abnormality of the pharynx,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000679,Taurodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000704,Periodontitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0000982,Palmoplantar keratoderma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0001034,Hypermelanotic macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0001053,Hypopigmented skin patches,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0001874,Abnormality of neutrophils,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0001928,Abnormality of coagulation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0002216,Premature graying of hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0002575,Tracheoesophageal fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0002664,Neoplasm,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0002745,Oral leukoplakia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0002894,Neoplasm of the pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0005374,Cellular immunodeficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0005528,Bone marrow hypocellularity,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0008065,Aplasia/Hypoplasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0008661,Urethral stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0010450,Esophageal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0010624,Aplastic/hypoplastic toenail,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0011364,White hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0012732,Anorectal anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0100627,Displacement of the urethral meatus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0100670,Coarse metaphyseal trabecularization,Frequent (79-30%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0200037,Skin vesicle,Occasional (29-5%),TAS,,,,,y,y +GARD:0010905,Orphanet,1775,ORPHA:1775,62,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0000725,Psychotic episodes,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0000787,Nephrolithiasis,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0000858,Irregular menstruation,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0001050,Plethora,Very frequent (99-80%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0001061,Acne,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0001065,Striae distensae,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0001580,Pigmented micronodular adrenocortical disease,Obligate (100%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0001952,Glucose intolerance,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0002893,Pituitary adenoma,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0002920,Decreased circulating ACTH level,Very frequent (99-80%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0003118,Increased circulating cortisol level,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0003466,Paradoxical increased cortisol secretion on dexamethasone suppression test,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0004324,Increased body weight,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0005585,Spotty hyperpigmentation,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0007126,Proximal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0007552,Abnormal subcutaneous fat tissue distribution,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0008221,Adrenal hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0010619,Fibroadenoma of the breast,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0010788,Testicular neoplasm,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0011672,Cardiac myxoma,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0012030,Increased urinary cortisol level,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0012743,Abdominal obesity,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0025383,Dorsocervical fat pad,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0030428,Cutaneous myxoma,Occasional (29-5%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0031845,Abnormal libido,Frequent (79-30%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0100754,Mania,Very rare (<4-1%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010906,Orphanet,189439,ORPHA:189439,46,HP:0500011,Moon facies,Very frequent (99-80%),TAS,,,,"[PMID:25945066, PMID:27211887, PMID:28707538]",y,y +GARD:0010909,Orphanet,99000,ORPHA:99000,9,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010909,Orphanet,99000,ORPHA:99000,9,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010909,Orphanet,99000,ORPHA:99000,9,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010909,Orphanet,99000,ORPHA:99000,9,HP:0000551,Color vision defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0010909,Orphanet,99000,ORPHA:99000,9,HP:0001123,Visual field defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0010909,Orphanet,99000,ORPHA:99000,9,HP:0001139,Choroideremia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010909,Orphanet,99000,ORPHA:99000,9,HP:0007677,Vitelliform-like macular lesions,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010909,Orphanet,99000,ORPHA:99000,9,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010909,Orphanet,99000,ORPHA:99000,9,HP:0007899,Retinal nonattachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010910,Orphanet,57196,ORPHA:57196,5,HP:0000889,Abnormal clavicle morphology,Frequent (79-30%),TAS,,,,"[PMID:15329764, PMID:25272551, PMID:27622150]",y,y +GARD:0010910,Orphanet,57196,ORPHA:57196,5,HP:0006467,Limited shoulder movement,Occasional (29-5%),TAS,,,,"[PMID:15329764, PMID:25272551, PMID:27622150]",y,y +GARD:0010910,Orphanet,57196,ORPHA:57196,5,HP:0010657,Patchy reduction of bone mineral density,Frequent (79-30%),TAS,,,,"[PMID:15329764, PMID:25272551, PMID:27622150]",y,y +GARD:0010910,Orphanet,57196,ORPHA:57196,5,HP:0011227,Elevated circulating C-reactive protein concentration,Occasional (29-5%),TAS,,,,"[PMID:15329764, PMID:25272551, PMID:27622150]",y,y +GARD:0010910,Orphanet,57196,ORPHA:57196,5,HP:0030834,Shoulder pain,Frequent (79-30%),TAS,,,,"[PMID:15329764, PMID:25272551, PMID:27622150]",y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0000499,Abnormal eyelash morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0000534,Abnormal eyebrow morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0001874,Abnormality of neutrophils,Frequent (79-30%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0002218,Silver-gray hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0003119,Abnormal circulating lipid concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0007730,Iris hypopigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0011364,White hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010913,Orphanet,381,ORPHA:381,36,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,,y,y +GARD:0010914,Orphanet,86820,ORPHA:86820,9,HP:0003366,Abnormal femoral neck/head morphology,Very frequent (99-80%),TAS,,,,"[PMID:15179599, PMID:15930420, PMID:23041471, PMID:27330106, PMID:29750297]",y,y +GARD:0010914,Orphanet,86820,ORPHA:86820,9,HP:0007311,Short stepped shuffling gait,Frequent (79-30%),TAS,,,,"[PMID:15179599, PMID:15930420, PMID:23041471, PMID:27330106, PMID:29750297]",y,y +GARD:0010914,Orphanet,86820,ORPHA:86820,9,HP:0008800,Limited hip movement,Frequent (79-30%),TAS,,,,"[PMID:15179599, PMID:15930420, PMID:23041471, PMID:27330106, PMID:29750297]",y,y +GARD:0010914,Orphanet,86820,ORPHA:86820,9,HP:0008812,Flattened femoral head,Frequent (79-30%),TAS,,,,"[PMID:15179599, PMID:15930420, PMID:23041471, PMID:27330106, PMID:29750297]",y,y +GARD:0010914,Orphanet,86820,ORPHA:86820,9,HP:0008843,Hip osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:15179599, PMID:15930420, PMID:23041471, PMID:27330106, PMID:29750297]",y,y +GARD:0010914,Orphanet,86820,ORPHA:86820,9,HP:0030838,Hip pain,Frequent (79-30%),TAS,,,,"[PMID:15179599, PMID:15930420, PMID:23041471, PMID:27330106, PMID:29750297]",y,y +GARD:0010914,Orphanet,86820,ORPHA:86820,9,HP:0031058,Impairment of activities of daily living,Frequent (79-30%),TAS,,,,"[PMID:15179599, PMID:15930420, PMID:23041471, PMID:27330106, PMID:29750297]",y,y +GARD:0010914,Orphanet,86820,ORPHA:86820,9,HP:0031520,Groin pain,Very frequent (99-80%),TAS,,,,"[PMID:15179599, PMID:15930420, PMID:23041471, PMID:27330106, PMID:29750297]",y,y +GARD:0010914,Orphanet,86820,ORPHA:86820,9,HP:0100559,Lower limb asymmetry,Frequent (79-30%),TAS,,,,"[PMID:15179599, PMID:15930420, PMID:23041471, PMID:27330106, PMID:29750297]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0000123,Nephritis,Very rare (<4-1%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0001410,Decreased liver function,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0001915,Aplastic anemia,Very rare (<4-1%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0002037,Inflammation of the large intestine,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0002155,Hypertriglyceridemia,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0002583,Colitis,Very rare (<4-1%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0002605,Hepatic necrosis,Very rare (<4-1%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0002633,Vasculitis,Very rare (<4-1%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0002720,Decreased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0002850,Decreased circulating total IgM,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0002955,Granulomatosis,Very rare (<4-1%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0002960,Autoimmunity,Very rare (<4-1%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0002961,Dysgammaglobulinemia,Frequent (79-30%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0003256,Abnormality of the coagulation cascade,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0003261,Increased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0003281,Increased circulating ferritin concentration,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0003496,Increased circulating IgM level,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0004315,Decreased circulating IgG level,Frequent (79-30%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0004787,Fulminant hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0005403,T lymphocytopenia,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0005404,Increased B cell count,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0010976,B lymphocytopenia,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0011900,Hypofibrinogenemia,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0012156,Hemophagocytosis,Frequent (79-30%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0012191,B-cell lymphoma,Frequent (79-30%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0012819,Myocarditis,Very rare (<4-1%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0025289,Cervical lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0030080,Burkitt lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0030250,Pulmonary granulomatosis,Very rare (<4-1%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0030812,Enlarged tonsils,Frequent (79-30%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0031408,Increased proportion of CD25+ mast cells,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0031693,Severe Epstein Barr virus infection,Frequent (79-30%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0040218,Reduced natural killer cell count,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0040219,Absent natural killer cells,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0100727,Histiocytosis,Frequent (79-30%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0100827,Lymphocytosis,Frequent (79-30%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010915,Orphanet,2442,ORPHA:2442,47,HP:0100828,Increased T cell count,Occasional (29-5%),TAS,,,,"[PMID:20301580, PMID:21083659, PMID:31352986]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000026,Male hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000744,Low frustration tolerance,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0001776,Bilateral talipes equinovarus,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0002500,Abnormal cerebral white matter morphology,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0002788,Recurrent upper respiratory tract infections,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0003241,External genital hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0003782,Eunuchoid habitus,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0008193,Primary gonadal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0010506,Abnormal plantar dermatoglyphics,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0011343,Moderate global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0040019,Finger clinodactyly,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010922,Orphanet,261534,ORPHA:261534,34,HP:0045058,Abnormality of the testis size,Very frequent (99-80%),TAS,,,,"[PMID:14015109, PMID:2090319, PMID:3697588, PMID:4838894, PMID:7156028, PMID:7199254, PMID:7567329, PMID:8546146]",y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0002113,Pulmonary infiltrates,Frequent (79-30%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0002239,Gastrointestinal hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0002315,Headache,Occasional (29-5%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0002666,Pheochromocytoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0002668,Paraganglioma,Frequent (79-30%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0002717,Adrenal overactivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0008256,Adrenocortical adenoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0100243,Leiomyosarcoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0100721,Mediastinal lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0010924,Orphanet,139411,ORPHA:139411,21,HP:0100723,Gastrointestinal stroma tumor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010929,Orphanet,48372,ORPHA:48372,2,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,[PMID:26415006],y,y +GARD:0010929,Orphanet,48372,ORPHA:48372,2,HP:0006707,Abnormality of the hepatic vasculature,Very frequent (99-80%),TAS,,,,[PMID:26415006],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000276,Long face,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000389,Chronic otitis media,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000609,Optic nerve hypoplasia,Frequent (79-30%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000717,Autism,Very frequent (99-80%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0004422,Biparietal narrowing,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0005518,Increased mean corpuscular volume,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0006315,Solitary median maxillary central incisor,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0007165,Periventricular heterotopia,Frequent (79-30%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0009623,Proximal placement of thumb,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0010720,Abnormal hair pattern,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,[PMID:19920853],y,y +GARD:0010935,Orphanet,261250,ORPHA:261250,47,HP:0030048,Colpocephaly,Frequent (79-30%),TAS,,,,[PMID:19920853],y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000049,Shawl scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000389,Chronic otitis media,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000498,Blepharitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000687,Widely spaced teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0002092,Pulmonary arterial hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0002803,Congenital contracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0003065,Patellar hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0003182,Shallow acetabular fossae,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0003279,Coxa magna,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0010511,Long toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0011342,Mild global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0011343,Moderate global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0011803,Bifid nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0010936,Orphanet,261279,ORPHA:261279,46,HP:0100807,Long fingers,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010938,Orphanet,231736,ORPHA:231736,7,HP:0000482,Microcornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010938,Orphanet,231736,ORPHA:231736,7,HP:0000556,Retinal dystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0010938,Orphanet,231736,ORPHA:231736,7,HP:0000567,Chorioretinal coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010938,Orphanet,231736,ORPHA:231736,7,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010938,Orphanet,231736,ORPHA:231736,7,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0010938,Orphanet,231736,ORPHA:231736,7,HP:0007968,Remnants of the hyaloid vascular system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010938,Orphanet,231736,ORPHA:231736,7,HP:0011502,Posterior lenticonus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0002069,Bilateral tonic-clonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0002263,Exaggerated cupid's bow,Very frequent (99-80%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0004422,Biparietal narrowing,Occasional (29-5%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0007766,Optic disc hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010943,Orphanet,238769,ORPHA:238769,33,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:22975012, PMID:24214579]",y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0000035,Abnormal testis morphology,Occasional (29-5%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0000077,Abnormality of the kidney,Very rare (<4-1%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0001732,Abnormality of the pancreas,Occasional (29-5%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0002088,Abnormal lung morphology,Occasional (29-5%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0002733,Abnormality of the lymph nodes,Frequent (79-30%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0011227,Elevated circulating C-reactive protein concentration,Very frequent (99-80%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0011897,Neutrophilia,Frequent (79-30%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0030049,Brain abscess,Occasional (29-5%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0100523,Liver abscess,Frequent (79-30%),TAS,,,,[PMID:17505254],y,y +GARD:0010946,Orphanet,54251,ORPHA:54251,17,HP:0100763,Abnormality of the lymphatic system,Occasional (29-5%),TAS,,,,[PMID:17505254],y,y +GARD:0010949,Orphanet,73267,ORPHA:73267,5,HP:0000618,Blindness,Frequent (79-30%),TAS,,,,"[PMID:1435929, PMID:18041479, PMID:23385698, PMID:26568125, PMID:27500861]",y,y +GARD:0010949,Orphanet,73267,ORPHA:73267,5,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:1435929, PMID:18041479, PMID:23385698, PMID:26568125, PMID:27500861]",y,y +GARD:0010949,Orphanet,73267,ORPHA:73267,5,HP:0001262,Excessive daytime somnolence,Frequent (79-30%),TAS,,,,"[PMID:1435929, PMID:18041479, PMID:23385698, PMID:26568125, PMID:27500861]",y,y +GARD:0010949,Orphanet,73267,ORPHA:73267,5,HP:0012689,Abnormal pineal melatonin secretion,Frequent (79-30%),TAS,,,,"[PMID:1435929, PMID:18041479, PMID:23385698, PMID:26568125, PMID:27500861]",y,y +GARD:0010949,Orphanet,73267,ORPHA:73267,5,HP:0025406,Asthenia,Frequent (79-30%),TAS,,,,"[PMID:1435929, PMID:18041479, PMID:23385698, PMID:26568125, PMID:27500861]",y,y +GARD:0010954,Orphanet,6,ORPHA:6,10,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010954,Orphanet,6,ORPHA:6,10,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,,y,y +GARD:0010954,Orphanet,6,ORPHA:6,10,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0010954,Orphanet,6,ORPHA:6,10,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010954,Orphanet,6,ORPHA:6,10,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010954,Orphanet,6,ORPHA:6,10,HP:0001992,Organic aciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010954,Orphanet,6,ORPHA:6,10,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0010954,Orphanet,6,ORPHA:6,10,HP:0004357,Abnormal circulating leucine concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010954,Orphanet,6,ORPHA:6,10,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0010954,Orphanet,6,ORPHA:6,10,HP:0100659,Abnormal cerebral vascular morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000078,Abnormality of the genital system,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000391,Thickened helices,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000465,Webbed neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000474,Thickened nuchal skin fold,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000476,Cystic hygroma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0000995,Melanocytic nevus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0001641,Abnormal pulmonary valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0001743,Abnormality of the spleen,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0001928,Abnormality of coagulation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0002208,Coarse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0002974,Radioulnar synostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0004415,Pulmonary artery stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0011362,Abnormal hair quantity,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0011381,Aplasia of the semicircular canal,Occasional (29-5%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0011869,Abnormal platelet function,Frequent (79-30%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0100625,Enlarged thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010955,Orphanet,648,ORPHA:648,55,HP:0100763,Abnormality of the lymphatic system,Frequent (79-30%),TAS,,,,,y,y +GARD:0010957,Orphanet,209981,ORPHA:209981,8,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,[PMID:23423674],y,y +GARD:0010957,Orphanet,209981,ORPHA:209981,8,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,[PMID:23423674],y,y +GARD:0010957,Orphanet,209981,ORPHA:209981,8,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:23423674],y,y +GARD:0010957,Orphanet,209981,ORPHA:209981,8,HP:0001406,Intrahepatic cholestasis,Frequent (79-30%),TAS,,,,[PMID:23423674],y,y +GARD:0010957,Orphanet,209981,ORPHA:209981,8,HP:0002242,Abnormal intestine morphology,Very frequent (99-80%),TAS,,,,[PMID:23423674],y,y +GARD:0010957,Orphanet,209981,ORPHA:209981,8,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,[PMID:23423674],y,y +GARD:0010957,Orphanet,209981,ORPHA:209981,8,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,[PMID:23423674],y,y +GARD:0010957,Orphanet,209981,ORPHA:209981,8,HP:0011967,Decreased circulating copper concentration,Frequent (79-30%),TAS,,,,[PMID:23423674],y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0000539,Abnormality of refraction,Very frequent (99-80%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0000612,Iris coloboma,Very rare (<4-1%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0001107,Ocular albinism,Frequent (79-30%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0002226,White eyebrow,Frequent (79-30%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0002227,White eyelashes,Frequent (79-30%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0002297,Red hair,Occasional (29-5%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0002671,Basal cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0006739,Squamous cell carcinoma of the skin,Frequent (79-30%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0007513,Generalized hypopigmentation,Very frequent (99-80%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0007750,Hypoplasia of the fovea,Very frequent (99-80%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0007894,Hypopigmentation of the fundus,Very frequent (99-80%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0011358,Generalized hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0011364,White hair,Frequent (79-30%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0012056,Cutaneous melanoma,Very rare (<4-1%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010958,Orphanet,55,ORPHA:55,23,HP:0200098,Absent skin pigmentation,Frequent (79-30%),TAS,,,,"[PMID:25093188, PMID:27350326, PMID:29374654, PMID:30996339, PMID:31196117]",y,y +GARD:0010962,Orphanet,284227,ORPHA:284227,14,HP:0000077,Abnormality of the kidney,Obligate (100%),TAS,,,,[PMID:25143825],y,y +GARD:0010962,Orphanet,284227,ORPHA:284227,14,HP:0001009,Telangiectasia,Obligate (100%),TAS,,,,[PMID:25143825],y,y +GARD:0010962,Orphanet,284227,ORPHA:284227,14,HP:0001028,Hemangioma,Very frequent (99-80%),TAS,,,,[PMID:25143825],y,y +GARD:0010962,Orphanet,284227,ORPHA:284227,14,HP:0001041,Facial erythema,Occasional (29-5%),TAS,,,,[PMID:25143825],y,y +GARD:0010962,Orphanet,284227,ORPHA:284227,14,HP:0001541,Ascites,Very frequent (99-80%),TAS,,,,[PMID:25143825],y,y +GARD:0010962,Orphanet,284227,ORPHA:284227,14,HP:0001899,Increased hematocrit,Obligate (100%),TAS,,,,[PMID:25143825],y,y +GARD:0010962,Orphanet,284227,ORPHA:284227,14,HP:0001901,Polycythemia,Frequent (79-30%),TAS,,,,[PMID:25143825],y,y +GARD:0010962,Orphanet,284227,ORPHA:284227,14,HP:0002170,Intracranial hemorrhage,Frequent (79-30%),TAS,,,,[PMID:25143825],y,y +GARD:0010962,Orphanet,284227,ORPHA:284227,14,HP:0002315,Headache,Occasional (29-5%),TAS,,,,[PMID:25143825],y,y +GARD:0010962,Orphanet,284227,ORPHA:284227,14,HP:0003237,Increased circulating IgG level,Obligate (100%),TAS,,,,[PMID:25143825],y,y +GARD:0010962,Orphanet,284227,ORPHA:284227,14,HP:0004930,Abnormality of the pulmonary vasculature,Very frequent (99-80%),TAS,,,,[PMID:25143825],y,y +GARD:0010962,Orphanet,284227,ORPHA:284227,14,HP:0004936,Venous thrombosis,Frequent (79-30%),TAS,,,,[PMID:25143825],y,y +GARD:0010962,Orphanet,284227,ORPHA:284227,14,HP:0011920,Transudative pleural effusion,Very frequent (99-80%),TAS,,,,[PMID:25143825],y,y +GARD:0010962,Orphanet,284227,ORPHA:284227,14,HP:0012418,Hypoxemia,Obligate (100%),TAS,,,,[PMID:25143825],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0000142,Abnormal vagina morphology,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0000217,Xerostomia,Frequent (79-30%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0000495,Recurrent corneal erosions,Frequent (79-30%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0001058,Poor wound healing,Very frequent (99-80%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0001097,Keratoconjunctivitis sicca,Frequent (79-30%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0001741,Phimosis,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0001806,Onycholysis,Frequent (79-30%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002031,Abnormal esophagus morphology,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002043,Esophageal stricture,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002107,Pneumothorax,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002110,Bronchiectasis,Frequent (79-30%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002113,Pulmonary infiltrates,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0004791,Esophageal ulceration,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0006536,Airway obstruction,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0007432,Intermittent generalized erythematous papular rash,Very frequent (99-80%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0011946,Bronchiolitis obliterans,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0012181,Entrapment neuropathy,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0012344,Morphea,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0012531,Pain,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0012537,Food intolerance,Frequent (79-30%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0012735,Cough,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0025270,Abnormal esophagus physiology,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0030828,Wheezing,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0100537,Fasciitis,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0100577,Urinary bladder inflammation,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0200037,Skin vesicle,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010964,Orphanet,99921,ORPHA:99921,53,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,[PMID:12720215],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0000356,Abnormality of the outer ear,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0000485,Megalocornea,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0000695,Natal tooth,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0000894,Short clavicles,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0001007,Hirsutism,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0001591,Bell-shaped thorax,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0001978,Extramedullary hematopoiesis,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0002814,Abnormality of the lower limb,Occasional (29-5%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0002979,Bowing of the legs,Occasional (29-5%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0003175,Hypoplastic ischia,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0004440,Coronal craniosynostosis,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0004453,Overfolding of the superior helices,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0005474,Decreased calvarial ossification,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0007642,Congenital stationary night blindness,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0008665,Clitoral hypertrophy,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0010455,Steep acetabular roof,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0011223,Metopic depression,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0030042,Incomplete ossification of pubis,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010965,Orphanet,313855,ORPHA:313855,27,HP:0040166,Abnormality of the periosteum,Very frequent (99-80%),TAS,,,,[PMID:22387015],y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0005681,Juvenile rheumatoid arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0011227,Elevated circulating C-reactive protein concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010966,Orphanet,85414,ORPHA:85414,15,HP:0012122,Anterior uveitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0000794,IgA deposition in the glomerulus,Very rare (<4-1%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0000925,Abnormality of the vertebral column,Frequent (79-30%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0001384,Abnormal hip joint morphology,Frequent (79-30%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0001634,Mitral valve prolapse,Very rare (<4-1%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0001659,Aortic regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0001832,Abnormal metatarsal morphology,Occasional (29-5%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0003019,Abnormality of the wrist,Occasional (29-5%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0003028,Abnormality of the ankles,Frequent (79-30%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0003043,Abnormal shoulder morphology,Occasional (29-5%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0003319,Abnormality of the cervical spine,Occasional (29-5%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0003366,Abnormal femoral neck/head morphology,Occasional (29-5%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0003418,Back pain,Frequent (79-30%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0004690,Thickened Achilles tendon,Frequent (79-30%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0005086,Knee osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0006217,Limited mobility of proximal interphalangeal joint,Occasional (29-5%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0006698,Dilatation of the ventricular cavity,Very rare (<4-1%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0008364,Abnormality of the calcaneus,Frequent (79-30%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0008843,Hip osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0009811,Abnormality of the elbow,Occasional (29-5%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0011842,Abnormal skeletal morphology,Occasional (29-5%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0011911,Abnormality of metacarpophalangeal joint,Occasional (29-5%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0012122,Anterior uveitis,Occasional (29-5%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0012317,Sacroiliac arthritis,Frequent (79-30%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0031090,Finger dactylitis,Occasional (29-5%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0040313,Oligoarthritis,Frequent (79-30%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0100536,Abnormality of the fascia,Frequent (79-30%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0100686,Enthesitis,Very frequent (99-80%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0100711,Abnormal thoracic spine morphology,Occasional (29-5%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010969,Orphanet,85438,ORPHA:85438,33,HP:0100712,Abnormal lumbar spine morphology,Frequent (79-30%),TAS,,,,"[PMID:29609643, PMID:30884197]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0001094,Iridocyclitis,Very rare (<4-1%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0001101,Iritis,Very rare (<4-1%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0001803,Nail pits,Frequent (79-30%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0001806,Onycholysis,Very rare (<4-1%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0002815,Abnormality of the knee,Occasional (29-5%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0003019,Abnormality of the wrist,Occasional (29-5%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0003043,Abnormal shoulder morphology,Occasional (29-5%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0003493,Antinuclear antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0003765,Psoriasiform dermatitis,Frequent (79-30%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0005197,Generalized morning stiffness,Occasional (29-5%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0005764,Polyarticular arthritis,Frequent (79-30%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0010754,Abnormality of the temporomandibular joint,Very rare (<4-1%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0011118,Abnormality of tumor necrosis factor secretion,Very frequent (99-80%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0012122,Anterior uveitis,Occasional (29-5%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0012317,Sacroiliac arthritis,Very rare (<4-1%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0025300,Malar rash,Occasional (29-5%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0025526,Psoriasiform lesion,Occasional (29-5%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0031090,Finger dactylitis,Frequent (79-30%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0031091,Toe dactylitis,Frequent (79-30%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0040313,Oligoarthritis,Frequent (79-30%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010970,Orphanet,85436,ORPHA:85436,28,HP:0100686,Enthesitis,Frequent (79-30%),TAS,,,,"[PMID:17162381, PMID:28148698, PMID:28222745, PMID:28752373, PMID:29101009]",y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0000288,Abnormality of the philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0001172,Abnormal thumb morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0001626,Abnormality of the cardiovascular system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0001643,Patent ductus arteriosus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0001671,Abnormal cardiac septum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0004097,Deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0005487,Prominent metopic ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0009601,Aplasia/Hypoplasia of the thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0010293,Aplasia/Hypoplasia of the uvula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0100555,Asymmetric growth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0100560,Upper limb asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010972,Orphanet,1597,ORPHA:1597,31,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0000529,Progressive visual loss,Occasional (29-5%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0002333,Motor deterioration,Frequent (79-30%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0003204,Intracellular accumulation of autofluorescent lipopigment storage material,Frequent (79-30%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0003208,Fingerprint intracellular accumulation of autofluorescent lipopigment storage material,Occasional (29-5%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0003657,Granular osmiophilic deposits (GROD) in cells,Occasional (29-5%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0010536,Central sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010973,Orphanet,79262,ORPHA:79262,21,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:27412140, PMID:30470609]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0000217,Xerostomia,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0000815,Hypergonadotropic hypogonadism,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0000863,Central diabetes insipidus,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0000872,Hashimoto thyroiditis,Frequent (79-30%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0000938,Osteopenia,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0001094,Iridocyclitis,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0001097,Keratoconjunctivitis sicca,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0001370,Rheumatoid arthritis,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0001970,Tubulointerstitial nephritis,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0001972,Macrocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0001973,Autoimmune thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0002582,Atrophic gastritis,Frequent (79-30%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0002608,Celiac disease,Frequent (79-30%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0002613,Biliary cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0002728,Chronic mucocutaneous candidiasis,Excluded (0%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0002960,Autoimmunity,Obligate (100%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0003613,Antiphospholipid antibody positivity,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0006530,Abnormal pulmonary interstitial morphology,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0008066,Abnormal blistering of the skin,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0008207,Primary adrenal insufficiency,Excluded (0%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0010451,Aplasia/Hypoplasia of the spleen,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0010625,Anterior pituitary dysgenesis,Occasional (29-5%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0011771,Autoimmune hypoparathyroidism,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0012115,Hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0012220,Non-caseating epithelioid cell granulomatosis,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0030057,Autoimmune antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0100522,Thymoma,Very rare (<4-1%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0100647,Graves disease,Frequent (79-30%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010980,Orphanet,227982,ORPHA:227982,33,HP:0100651,Type I diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:12843130, PMID:15597731, PMID:15625773, PMID:16946565, PMID:17880463, PMID:19322903, PMID:19411300, PMID:19645063, PMID:20233565, PMID:2218600, PMID:22278434, PMID:26000153, PMID:4053951, PMID:7934446, PMID:8616531]",y,y +GARD:0010983,Orphanet,79152,ORPHA:79152,4,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010983,Orphanet,79152,ORPHA:79152,4,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0010983,Orphanet,79152,ORPHA:79152,4,HP:0002860,Squamous cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0010983,Orphanet,79152,ORPHA:79152,4,HP:0200044,Porokeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0002742,Recurrent Klebsiella infections,Very rare (<4-1%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0002840,Lymphadenitis,Frequent (79-30%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0005401,Recurrent candida infections,Frequent (79-30%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0005661,Salmonella osteomyelitis,Occasional (29-5%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0007408,Tegumentary leishmaniasis susceptibility,Occasional (29-5%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0011274,Recurrent mycobacterial infections,Very frequent (99-80%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0020087,BCGosis,Very frequent (99-80%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0020105,Severe toxoplasmosis,Very rare (<4-1%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0030782,Abnormal circulating interleukin concentration,Very frequent (99-80%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0032249,Coccidioidomycosis,Very rare (<4-1%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0032256,Histoplasmosis,Very rare (<4-1%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0032283,Disseminated nontuberculous mycobacterial infection,Frequent (79-30%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010984,Orphanet,319552,ORPHA:319552,15,HP:0200029,Vasculitis in the skin,Very rare (<4-1%),TAS,,,,"[PMID:23864330, PMID:28276206, PMID:31951326]",y,y +GARD:0010986,Orphanet,33111,ORPHA:33111,10,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,[PMID:3496402],y,y +GARD:0010986,Orphanet,33111,ORPHA:33111,10,HP:0000973,Cutis laxa,Frequent (79-30%),TAS,,,,[PMID:3496402],y,y +GARD:0010986,Orphanet,33111,ORPHA:33111,10,HP:0001582,Redundant skin,Frequent (79-30%),TAS,,,,[PMID:3496402],y,y +GARD:0010986,Orphanet,33111,ORPHA:33111,10,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,[PMID:3496402],y,y +GARD:0010986,Orphanet,33111,ORPHA:33111,10,HP:0002665,Lymphoma,Frequent (79-30%),TAS,,,,[PMID:3496402],y,y +GARD:0010986,Orphanet,33111,ORPHA:33111,10,HP:0002733,Abnormality of the lymph nodes,Occasional (29-5%),TAS,,,,[PMID:3496402],y,y +GARD:0010986,Orphanet,33111,ORPHA:33111,10,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,[PMID:3496402],y,y +GARD:0010986,Orphanet,33111,ORPHA:33111,10,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,[PMID:3496402],y,y +GARD:0010986,Orphanet,33111,ORPHA:33111,10,HP:0012189,Hodgkin lymphoma,Frequent (79-30%),TAS,,,,[PMID:3496402],y,y +GARD:0010986,Orphanet,33111,ORPHA:33111,10,HP:0030053,Stiff skin,Frequent (79-30%),TAS,,,,[PMID:3496402],y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000446,Narrow nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0001863,Toe clinodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0001869,Deep plantar creases,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0003077,Hyperlipidemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0006191,Deep palmar crease,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0006817,Aplasia/Hypoplasia of the cerebellar vermis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0008572,External ear malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010991,Orphanet,254346,ORPHA:254346,55,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0000182,Movement abnormality of the tongue,Frequent (79-30%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0002313,Spastic paraparesis,Very frequent (99-80%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0006895,Lower limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010992,Orphanet,254343,ORPHA:254343,16,HP:0200049,Upper limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:20970105, PMID:25008111]",y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000003,Multicystic kidney dysplasia,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000046,Small scrotum,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000126,Hydronephrosis,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0000946,Hypoplastic ilia,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0002974,Radioulnar synostosis,Occasional (29-5%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0003175,Hypoplastic ischia,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0003273,Hip contracture,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0006380,Knee flexion contracture,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0006443,Patellar aplasia,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0008665,Clitoral hypertrophy,Very frequent (99-80%),TAS,,,,[PMID:10882755],y,y +GARD:0010994,Orphanet,85201,ORPHA:85201,38,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,[PMID:10882755],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0000218,High palate,Occasional (29-5%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0002761,Generalized joint laxity,Occasional (29-5%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0002996,Limited elbow movement,Occasional (29-5%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0005469,Flat occiput,Occasional (29-5%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0005922,Abnormal hand morphology,Occasional (29-5%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0006927,Unilateral polymicrogyria,Occasional (29-5%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0010501,Limitation of knee mobility,Occasional (29-5%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0010669,Hypoplasia of the zygomatic bone,Occasional (29-5%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0010850,EEG with spike-wave complexes,Occasional (29-5%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0011094,Increased overbite,Frequent (79-30%),TAS,,,,[PMID:22753084],y,y +GARD:0010996,Orphanet,319171,ORPHA:319171,23,HP:0011343,Moderate global developmental delay,Frequent (79-30%),TAS,,,,[PMID:22753084],y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000139,Uterine prolapse,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000689,Dental malocclusion,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000939,Osteoporosis,Very rare (<4-1%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0000987,Atypical scarring of skin,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0001065,Striae distensae,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0001363,Craniosynostosis,Excluded (0%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0001519,Disproportionate tall stature,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0001653,Mitral regurgitation,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0001659,Aortic regurgitation,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0002617,Vascular dilatation,Very frequent (99-80%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0002647,Aortic dissection,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0003179,Protrusio acetabuli,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0003302,Spondylolisthesis,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0004268,Osteoarthritis of the small joints of the hand,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0004944,Dilatation of the cerebral artery,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0005086,Knee osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0005110,Atrial fibrillation,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0005112,Abdominal aortic aneurysm,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0005116,Arterial tortuosity,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0005294,Arterial dissection,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0008419,Intervertebral disc degeneration,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0010886,Osteochondritis dissecans,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0011645,Dilatation of the sinus of Valsalva,Very frequent (99-80%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0012432,Chronic fatigue,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0025487,Abnormality of bladder morphology,Frequent (79-30%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010997,Orphanet,284984,ORPHA:284984,51,HP:0100775,Dural ectasia,Occasional (29-5%),TAS,,,,"[PMID:21217753, PMID:21778426, PMID:22167769]",y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0000733,Motor stereotypy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0000749,Paroxysmal bursts of laughter,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0001572,Macrodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0010998,Orphanet,228402,ORPHA:228402,32,HP:0100716,Self-injurious behavior,Frequent (79-30%),TAS,,,,,y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0000297,Facial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0000646,Amblyopia,Very rare (<4-1%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0002518,Abnormal periventricular white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0002761,Generalized joint laxity,Very rare (<4-1%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0002816,Genu recurvatum,Very rare (<4-1%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0008807,Acetabular dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0010803,Everted upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0025502,Overweight,Occasional (29-5%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0010999,Orphanet,280763,ORPHA:280763,37,HP:0100962,Shyness,Occasional (29-5%),TAS,,,,"[PMID:19559397, PMID:21620353, PMID:25552650]",y,y +GARD:0011005,Orphanet,163703,ORPHA:163703,12,HP:0000246,Sinusitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0011005,Orphanet,163703,ORPHA:163703,12,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0011005,Orphanet,163703,ORPHA:163703,12,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011005,Orphanet,163703,ORPHA:163703,12,HP:0001699,Sudden death,Occasional (29-5%),TAS,,,,,y,y +GARD:0011005,Orphanet,163703,ORPHA:163703,12,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0011005,Orphanet,163703,ORPHA:163703,12,HP:0002315,Headache,Frequent (79-30%),TAS,,,,,y,y +GARD:0011005,Orphanet,163703,ORPHA:163703,12,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011005,Orphanet,163703,ORPHA:163703,12,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011005,Orphanet,163703,ORPHA:163703,12,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,,y,y +GARD:0011005,Orphanet,163703,ORPHA:163703,12,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0011005,Orphanet,163703,ORPHA:163703,12,HP:0007359,Focal-onset seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011005,Orphanet,163703,ORPHA:163703,12,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0011011,Orphanet,641,ORPHA:641,12,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:24395647, PMID:24741315]",y,y +GARD:0011011,Orphanet,641,ORPHA:641,12,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,"[PMID:24395647, PMID:24741315]",y,y +GARD:0011011,Orphanet,641,ORPHA:641,12,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:24395647, PMID:24741315]",y,y +GARD:0011011,Orphanet,641,ORPHA:641,12,HP:0003323,Progressive muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:24395647, PMID:24741315]",y,y +GARD:0011011,Orphanet,641,ORPHA:641,12,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:24395647, PMID:24741315]",y,y +GARD:0011011,Orphanet,641,ORPHA:641,12,HP:0003690,Limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:24395647, PMID:24741315]",y,y +GARD:0011011,Orphanet,641,ORPHA:641,12,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:24395647, PMID:24741315]",y,y +GARD:0011011,Orphanet,641,ORPHA:641,12,HP:0004345,Ganglioside accumulation,Frequent (79-30%),TAS,,,,"[PMID:24395647, PMID:24741315]",y,y +GARD:0011011,Orphanet,641,ORPHA:641,12,HP:0006251,Limited wrist extension,Frequent (79-30%),TAS,,,,"[PMID:24395647, PMID:24741315]",y,y +GARD:0011011,Orphanet,641,ORPHA:641,12,HP:0009063,Progressive distal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:24395647, PMID:24741315]",y,y +GARD:0011011,Orphanet,641,ORPHA:641,12,HP:0009077,Weakness of long finger extensor muscles,Frequent (79-30%),TAS,,,,"[PMID:24395647, PMID:24741315]",y,y +GARD:0011011,Orphanet,641,ORPHA:641,12,HP:0012078,Motor conduction block,Frequent (79-30%),TAS,,,,"[PMID:24395647, PMID:24741315]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0000763,Sensory neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0000925,Abnormality of the vertebral column,Very frequent (99-80%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0001014,Angiokeratoma,Occasional (29-5%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0001052,Nevus flammeus,Very frequent (99-80%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0002143,Abnormality of the spinal cord,Very frequent (99-80%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0002385,Paraparesis,Very frequent (99-80%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0002390,Spinal arteriovenous malformation,Very frequent (99-80%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0002839,Urinary bladder sphincter dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0006773,Cutaneous angiolipomas,Frequent (79-30%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0100026,Arteriovenous malformation,Very frequent (99-80%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0100761,Visceral angiomatosis,Very frequent (99-80%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011892,Orphanet,53721,ORPHA:53721,20,HP:0100764,Lymphangioma,Occasional (29-5%),TAS,,,,"[PMID:20805687, PMID:21519966]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0000460,Narrow nose,Very frequent (99-80%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0000468,Increased adipose tissue around the neck,Very frequent (99-80%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0000685,Hypoplasia of teeth,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0000831,Insulin-resistant diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0000894,Short clavicles,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0000956,Acanthosis nigricans,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0001090,Abnormally large globe,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0001804,Hypoplastic fingernail,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0001870,Acroosteolysis of distal phalanges (feet),Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0001952,Glucose intolerance,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0003124,Hypercholesterolemia,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0003635,Loss of subcutaneous adipose tissue in limbs,Very frequent (99-80%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0003809,Reduced intrathoracic adipose tissue,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0005781,Contractures of the large joints,Very frequent (99-80%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0008993,Increased intraabdominal fat,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0009003,Increased subcutaneous truncal adipose tissue,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0009839,Osteolytic defects of the distal phalanges of the hand,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0011334,Facial shape deformation,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0030781,Increased circulating free fatty acid level,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0030809,Abnormal tongue morphology,Frequent (79-30%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011893,Orphanet,2457,ORPHA:2457,34,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,"[PMID:11836320, PMID:12788894, PMID:12913070, PMID:18796515, PMID:1939519, PMID:1951457, PMID:25629449, PMID:27710244]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0000144,Decreased fertility,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0000790,Hematuria,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0001708,Right ventricular failure,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0002107,Pneumothorax,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0002110,Bronchiectasis,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0002113,Pulmonary infiltrates,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0002206,Pulmonary fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0002875,Exertional dyspnea,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0002878,Respiratory failure,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0003473,Fatigable weakness,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0004241,Stippled calcification in carpal bones,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0004363,Abnormal circulating calcium concentration,Excluded (0%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0004382,Mitral valve calcification,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0004724,Calcium nephrolithiasis,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0004963,Calcification of the aorta,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0005317,Increased pulmonary vascular resistance,Frequent (79-30%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0008703,Gonadal calcification,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0010766,Ectopic calcification,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0011947,Respiratory tract infection,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0012215,Testicular microlithiasis,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0012387,Bronchitis,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0012398,Peripheral edema,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0012418,Hypoxemia,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0025178,Subpleural interstitial thickening,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0025179,Ground-glass opacification,Very rare (<4-1%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0030874,Oxygen desaturation on exertion,Frequent (79-30%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0030879,Interlobular septal thickening,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0031246,Nonproductive cough,Frequent (79-30%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0031944,Pleural thickening,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0032094,Increased circulating surfactant protein level,Frequent (79-30%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0100529,Abnormal blood phosphate concentration,Excluded (0%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011894,Orphanet,60025,ORPHA:60025,43,HP:0100759,Clubbing of fingers,Occasional (29-5%),TAS,,,,"[PMID:32964001, PMID:33246992]",y,y +GARD:0011897,Orphanet,1871,ORPHA:1871,5,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011897,Orphanet,1871,ORPHA:1871,5,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011897,Orphanet,1871,ORPHA:1871,5,HP:0000551,Color vision defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011897,Orphanet,1871,ORPHA:1871,5,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011897,Orphanet,1871,ORPHA:1871,5,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011899,Orphanet,385,ORPHA:385,10,HP:0000488,Retinopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0011899,Orphanet,385,ORPHA:385,10,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0011899,Orphanet,385,ORPHA:385,10,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0011899,Orphanet,385,ORPHA:385,10,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,,y,y +GARD:0011899,Orphanet,385,ORPHA:385,10,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0011899,Orphanet,385,ORPHA:385,10,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011899,Orphanet,385,ORPHA:385,10,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,,y,y +GARD:0011899,Orphanet,385,ORPHA:385,10,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,,y,y +GARD:0011899,Orphanet,385,ORPHA:385,10,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,,y,y +GARD:0011899,Orphanet,385,ORPHA:385,10,HP:0012675,Iron accumulation in brain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0000605,Supranuclear gaze palsy,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0001264,Spastic diplegia,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002179,Opisthotonus,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002425,Anarthria,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002483,Bulbar signs,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002530,Axial dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002544,Retrocollis,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002599,Head titubation,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0003429,CNS hypomyelination,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0003693,Distal amyotrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0003701,Proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0003722,Neck flexor weakness,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0005750,Contractures of the joints of the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0006986,Upper limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0007354,Amyotrophic lateral sclerosis,Very frequent (99-80%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0012048,Oromandibular dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0031960,Arm dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0100295,Muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0100360,Contractures of the joints of the upper limbs,Frequent (79-30%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011901,Orphanet,300605,ORPHA:300605,46,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:20301623, PMID:24562058, PMID:31682085]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0000308,Microretrognathia,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0000369,Low-set ears,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0000467,Neck muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0000565,Esotropia,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0000602,Ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0000651,Diplopia,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0000768,Pectus carinatum,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001265,Hyporeflexia,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001283,Bulbar palsy,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001374,Congenital hip dislocation,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001388,Joint laxity,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001561,Polyhydramnios,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001612,Weak cry,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0002020,Gastroesophageal reflux,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0002033,Poor suck,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0002392,EEG with polyspike wave complexes,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0002804,Arthrogryposis multiplex congenita,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0002870,Obstructive sleep apnea,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0002872,"Apneic episodes precipitated by illness, fatigue, stress",Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0002882,Sudden episodic apnea,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0003306,Spinal rigidity,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0003325,Limb-girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0003458,EMG: myopathic abnormalities,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0003473,Fatigable weakness,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0003693,Distal amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0003701,Proximal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0004661,Frontalis muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0004885,Episodic respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0004889,Intermittent episodes of respiratory insufficiency due to muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0005943,Respiratory arrest,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0007178,Motor polyneuropathy,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0008443,Spinal deformities,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0010307,Stridor,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0010536,Central sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0011469,Nasal regurgitation,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0012801,Narrow jaw,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0025401,Staring gaze,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0030208,Anti-acetylcholine receptor antibody positivity,Excluded (0%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0030842,Choking episodes,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0100285,EMG: impaired neuromuscular transmission,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011902,Orphanet,590,ORPHA:590,68,HP:0100295,Muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0000246,Sinusitis,Frequent (79-30%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0000388,Otitis media,Frequent (79-30%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0001047,Atopic dermatitis,Occasional (29-5%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0002848,Decreased specific anti-polysaccharide antibody level,Very frequent (99-80%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0007274,Recurrent bacterial meningitis,Occasional (29-5%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0010976,B lymphocytopenia,Occasional (29-5%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0012384,Rhinitis,Frequent (79-30%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0030374,Decreased proportion of memory B cells,Frequent (79-30%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0031949,Recurrent bacterial upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0200117,Recurrent upper and lower respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0410240,Abnormal circulating IgA level,Excluded (0%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0410242,Abnormal circulating IgG level,Excluded (0%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0410243,Abnormal circulating IgM level,Excluded (0%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0410295,Complete or near-complete absence of specific antibody response to tetanus vaccine,Excluded (0%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0410299,Decreased specific antibody response to polysaccharide vaccine,Very frequent (99-80%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0410300,Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine,Very frequent (99-80%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0410302,Decreased specific antibody response to protein-conjugated polysaccharide vaccine,Very frequent (99-80%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011903,Orphanet,70593,ORPHA:70593,19,HP:0410303,Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine,Very frequent (99-80%),TAS,,,,"[PMID:11445810, PMID:28588580]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0000011,Neurogenic bladder,Very rare (<4-1%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0000996,Facial capillary hemangioma,Very rare (<4-1%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0001009,Telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0001028,Hemangioma,Very rare (<4-1%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0001722,High-output congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0001790,Nonimmune hydrops fetalis,Very rare (<4-1%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0002076,Migraine,Very rare (<4-1%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0002315,Headache,Very rare (<4-1%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0002408,Cerebral arteriovenous malformation,Occasional (29-5%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0002637,Cerebral ischemia,Occasional (29-5%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0004302,Functional motor deficit,Very rare (<4-1%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0004947,Arteriovenous fistula,Occasional (29-5%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0009127,Abnormality of the musculature of the limbs,Occasional (29-5%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0010310,Chylothorax,Very rare (<4-1%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0011276,Vascular skin abnormality,Frequent (79-30%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0012733,Macule,Occasional (29-5%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0020073,Hypopigmented macule,Very rare (<4-1%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0025104,Capillary malformation,Very frequent (99-80%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0030713,Vein of Galen aneurysmal malformation,Occasional (29-5%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0100026,Arteriovenous malformation,Occasional (29-5%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0100763,Abnormality of the lymphatic system,Occasional (29-5%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011904,Orphanet,137667,ORPHA:137667,29,HP:0100784,Peripheral arteriovenous fistula,Occasional (29-5%),TAS,,,,"[PMID:21348050, PMID:28687708, PMID:29891884, PMID:31017636]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0001744,Splenomegaly,Very rare (<4-1%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0001876,Pancytopenia,Very frequent (99-80%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0003419,Low back pain,Occasional (29-5%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0004808,Acute myeloid leukemia,Occasional (29-5%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0004820,Acute myelomonocytic leukemia,Occasional (29-5%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0011974,Myelofibrosis,Very frequent (99-80%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0012129,Abnormality of bone marrow stromal cells,Frequent (79-30%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0012143,Abnormal megakaryocyte morphology,Frequent (79-30%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0031020,Bone marrow hypercellularity,Frequent (79-30%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0031385,Megakaryocyte nucleus hypolobulation,Occasional (29-5%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0031386,Increased micromegakaryocyte count,Occasional (29-5%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011907,Orphanet,86843,ORPHA:86843,15,HP:0100827,Lymphocytosis,Occasional (29-5%),TAS,,,,"[PMID:15173958, PMID:23795280, PMID:24192103, PMID:30103016]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000035,Abnormal testis morphology,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000546,Retinal degeneration,Frequent (79-30%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000765,Abnormal thorax morphology,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000819,Diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000831,Insulin-resistant diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000869,Secondary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000905,Progressive clavicular acroosteolysis,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000934,Chondrocalcinosis,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001015,Prominent superficial veins,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001397,Hepatic steatosis,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001601,Laryngomalacia,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001635,Congestive heart failure,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001650,Aortic valve stenosis,Frequent (79-30%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001677,Coronary artery atherosclerosis,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001808,Fragile nails,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0001838,Rocker bottom foot,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0002211,White forelock,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0002669,Osteosarcoma,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0002858,Meningioma,Frequent (79-30%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0003074,Hyperglycemia,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0003076,Glycosuria,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0003738,Exercise-induced myalgia,Occasional (29-5%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0003777,Pili torti,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0004054,Sclerosis of hand bone,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0004325,Decreased body weight,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0004361,Abnormality of circulating leptin level,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0004380,Aortic valve calcification,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0004414,Abnormality of the pulmonary artery,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0004950,Peripheral arterial stenosis,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0005109,Abnormality of the Achilles tendon,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0005177,Premature arteriosclerosis,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0005328,Progeroid facial appearance,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0005978,Type II diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0007509,Patchy hypo- and hyperpigmentation,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0007618,Subcutaneous calcification,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0008069,Neoplasm of the skin,Frequent (79-30%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0008209,Premature ovarian insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0008283,Fasting hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0008419,Intervertebral disc degeneration,Frequent (79-30%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0008981,Calf muscle hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0009064,Generalized lipodystrophy,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0009726,Renal neoplasm,Frequent (79-30%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0009771,Osteolytic defects of the phalanges of the hand,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0010721,Abnormal hair whorl,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0011001,Increased bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0011362,Abnormal hair quantity,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0040019,Finger clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0100013,Neoplasm of the breast,Frequent (79-30%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0100031,Neoplasm of the thyroid gland,Frequent (79-30%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0100526,Neoplasm of the lung,Frequent (79-30%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0100615,Ovarian neoplasm,Frequent (79-30%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0100649,Neoplasm of the oral cavity,Frequent (79-30%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0100659,Abnormal cerebral vascular morphology,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0100679,Lack of skin elasticity,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0100833,Neoplasm of the small intestine,Frequent (79-30%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011910,Orphanet,79474,ORPHA:79474,90,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,"[PMID:12629077, PMID:12927424, PMID:12927431, PMID:14615128, PMID:15060110, PMID:15773753, PMID:17711925, PMID:19875478, PMID:22817610, PMID:23849162, PMID:24384368, PMID:25649378]",y,y +GARD:0011911,Orphanet,94064,ORPHA:94064,3,HP:0000027,Azoospermia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011911,Orphanet,94064,ORPHA:94064,3,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011911,Orphanet,94064,ORPHA:94064,3,HP:0003251,Male infertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0001611,Nasal speech,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0002616,Aortic root aneurysm,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0002943,Thoracic scoliosis,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0003388,Easy fatigability,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0003391,Gowers sign,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0003551,Difficulty climbing stairs,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0003557,Increased variability in muscle fiber diameter,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0003700,Generalized amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0004303,Abnormal muscle fiber morphology,Frequent (79-30%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0006673,Reduced systolic function,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0007110,Central hypoventilation,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0007210,Lower limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0007340,Lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0009046,Difficulty running,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0011703,Sinus tachycardia,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011915,Orphanet,171881,ORPHA:171881,30,HP:0030200,Fatiguable weakness of proximal limb muscles,Occasional (29-5%),TAS,,,,"[PMID:19345583, PMID:19553118]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0000708,Behavioral abnormality,Very rare (<4-1%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0001256,"Intellectual disability, mild",Very rare (<4-1%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0001345,Psychotic mentation,Very rare (<4-1%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0002069,Bilateral tonic-clonic seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0002268,Paroxysmal dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0002883,Hyperventilation,Occasional (29-5%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0007018,Attention deficit hyperactivity disorder,Very rare (<4-1%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0011174,Focal hyperkinetic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0011182,Interictal epileptiform activity,Occasional (29-5%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0011193,EEG with focal spikes,Occasional (29-5%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0025235,Non-rapid eye movement parasomnia,Very rare (<4-1%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0025236,Somnambulism,Occasional (29-5%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0025237,Confusional arousal,Occasional (29-5%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0031535,Increased theta frequency activity in EEG,Occasional (29-5%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0031589,Suicidal ideation,Occasional (29-5%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0031951,Nocturnal seizures,Very frequent (99-80%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011918,Orphanet,98784,ORPHA:98784,22,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:20301348, PMID:25194481, PMID:30234941]",y,y +GARD:0011923,Orphanet,284400,ORPHA:284400,6,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0011923,Orphanet,284400,ORPHA:284400,6,HP:0000790,Hematuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011923,Orphanet,284400,ORPHA:284400,6,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0011923,Orphanet,284400,ORPHA:284400,6,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0011923,Orphanet,284400,ORPHA:284400,6,HP:0009725,Bladder neoplasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0011923,Orphanet,284400,ORPHA:284400,6,HP:0100518,Dysuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0003687,Centrally nucleated skeletal muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0003755,Type 1 fibers relatively smaller than type 2 fibers,Very frequent (99-80%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0004887,Respiratory failure requiring assisted ventilation,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0006829,Severe muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0030192,Fatigable weakness of bulbar muscles,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0030195,Fatigable weakness of swallowing muscles,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0030319,Weakness of facial musculature,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0030917,Low APGAR score,Very frequent (99-80%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011925,Orphanet,596,ORPHA:596,24,HP:0031238,Necklace skeletal muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:26823526, PMID:31484632, PMID:31578728]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0000789,Infertility,Very rare (<4-1%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0001278,Orthostatic hypotension,Very rare (<4-1%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0001279,Syncope,Very rare (<4-1%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0001649,Tachycardia,Very rare (<4-1%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0001824,Weight loss,Very rare (<4-1%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0001920,Renal artery stenosis,Frequent (79-30%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0002018,Nausea,Very rare (<4-1%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0002027,Abdominal pain,Very rare (<4-1%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0002619,Varicose veins,Frequent (79-30%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0002907,Microscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0011934,Dilatation of mesenteric artery,Frequent (79-30%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0012332,Abnormal autonomic nervous system physiology,Very rare (<4-1%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0012871,Varicocele,Frequent (79-30%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0030016,Dyspareunia,Very rare (<4-1%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0030157,Flank pain,Frequent (79-30%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0100607,Dysmenorrhea,Very rare (<4-1%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011971,Orphanet,71273,ORPHA:71273,21,HP:0100677,Vulval varicose vein,Occasional (29-5%),TAS,,,,"[PMID:28356209, PMID:32644615]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000275,Narrow face,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0001611,Nasal speech,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0001682,Subvalvular aortic stenosis,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0007302,Bipolar affective disorder,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011974,Orphanet,65286,ORPHA:65286,44,HP:0008416,Six lumbar vertebrae,Occasional (29-5%),TAS,,,,"[PMID:15918153, PMID:19298871, PMID:19460468, PMID:20830797]",y,y +GARD:0011980,Orphanet,85163,ORPHA:85163,6,HP:0000519,Developmental cataract,Very frequent (99-80%),TAS,,,,[PMID:16951682],y,y +GARD:0011980,Orphanet,85163,ORPHA:85163,6,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:16951682],y,y +GARD:0011980,Orphanet,85163,ORPHA:85163,6,HP:0001317,Abnormal cerebellum morphology,Very frequent (99-80%),TAS,,,,[PMID:16951682],y,y +GARD:0011980,Orphanet,85163,ORPHA:85163,6,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,[PMID:16951682],y,y +GARD:0011980,Orphanet,85163,ORPHA:85163,6,HP:0006808,Cerebral hypomyelination,Very frequent (99-80%),TAS,,,,[PMID:16951682],y,y +GARD:0011980,Orphanet,85163,ORPHA:85163,6,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,[PMID:16951682],y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0000100,Nephrotic syndrome,Frequent (79-30%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0001658,Myocardial infarction,Very rare (<4-1%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0001977,Abnormal thrombosis,Very rare (<4-1%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0002907,Microscopic hematuria,Frequent (79-30%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0004746,Glomerular subendothelial electron-dense deposits,Frequent (79-30%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0005421,Decreased serum complement C3,Frequent (79-30%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0011510,Drusen,Very rare (<4-1%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011982,Orphanet,54370,ORPHA:54370,15,HP:0030888,C3 nephritic factor positivity,Frequent (79-30%),TAS,,,,"[PMID:22798508, PMID:22802081, PMID:26972096, PMID:27056062, PMID:30854618]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0000096,Glomerular sclerosis,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0000526,Aniridia,Very rare (<4-1%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0000740,Episodic paroxysmal anxiety,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0001069,Episodic hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0001095,Hypertensive retinopathy,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0001293,Cranial nerve compression,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0001342,Cerebral hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0001605,Vocal cord paralysis,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0002331,Recurrent paroxysmal headache,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0002640,Hypertension associated with pheochromocytoma,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0002668,Paraganglioma,Very frequent (99-80%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0002864,Paraganglioma of head and neck,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0003072,Hypercalcemia,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0003345,Elevated urinary norepinephrine,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0003528,Elevated calcitonin,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0003574,Positive regitine blocking test,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0003639,Elevated urinary epinephrine,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0005584,Renal cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0006737,Extraadrenal pheochromocytoma,Very frequent (99-80%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0006748,Adrenal pheochromocytoma,Very frequent (99-80%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0008629,Pulsatile tinnitus,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0009711,Retinal capillary hemangioma,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0010532,Paroxysmal vertigo,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0011703,Sinus tachycardia,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0011979,Elevated urinary dopamine,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0012222,Arachnoid hemangiomatosis,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0025269,Panic attack,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0031284,Flushing,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011984,Orphanet,29072,ORPHA:29072,41,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0000026,Male hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0000027,Azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0000718,Aggressive behavior,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0000744,Low frustration tolerance,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0001061,Acne,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0002099,Asthma,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0002788,Recurrent upper respiratory tract infections,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0002974,Radioulnar synostosis,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0003083,Dislocated radial head,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0006297,Enamel hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0006316,Irregularly spaced teeth,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0008193,Primary gonadal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0012210,Abnormal renal morphology,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0011985,Orphanet,99329,ORPHA:99329,31,HP:0100710,Impulsivity,Very frequent (99-80%),TAS,,,,"[PMID:1296523, PMID:14283740, PMID:7604847]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0000069,Abnormality of the ureter,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0000363,Abnormal earlobe morphology,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0001612,Weak cry,Very frequent (99-80%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0001791,Fetal ascites,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0002088,Abnormal lung morphology,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0002245,Meckel diverticulum,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0002247,Duodenal atresia,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0002577,Abnormal stomach morphology,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0002778,Abnormal tracheal morphology,Frequent (79-30%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0002781,Upper airway obstruction,Very rare (<4-1%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0004383,Hypoplastic left heart,Very rare (<4-1%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0004935,Pulmonary artery atresia,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0005151,Preductal coarctation of the aorta,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0005607,Abnormal tracheobronchial morphology,Frequent (79-30%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0011661,Anomalous origin of left pulmonary artery from ascending aorta,Frequent (79-30%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0012718,Morphological abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0012768,Neonatal asphyxia,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0025426,Abnormal bronchus morphology,Very rare (<4-1%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0030828,Wheezing,Frequent (79-30%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0030923,5-minute APGAR score of 3,Frequent (79-30%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0031935,Ascending aorta hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012008,Orphanet,141127,ORPHA:141127,36,HP:0100867,Duodenal stenosis,Occasional (29-5%),TAS,,,,"[PMID:28132084, PMID:28964311, PMID:29370890, PMID:29846792]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0001114,Xanthelasma,Very rare (<4-1%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0001396,Cholestasis,Very frequent (99-80%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0001405,Periportal fibrosis,Occasional (29-5%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0001408,Bile duct proliferation,Occasional (29-5%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0001410,Decreased liver function,Frequent (79-30%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0001525,Severe failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0002630,Fat malabsorption,Frequent (79-30%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0002908,Conjugated hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0006579,Prolonged neonatal jaundice,Frequent (79-30%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0008151,Prolonged prothrombin time,Frequent (79-30%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0011984,Atretic gallbladder,Frequent (79-30%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0011985,Acholic stools,Frequent (79-30%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0030948,Elevated gamma-glutamyltransferase level,Frequent (79-30%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0040075,Hypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012010,Orphanet,30391,ORPHA:30391,28,HP:0040321,Dark yellow urine,Frequent (79-30%),TAS,,,,"[PMID:14928160, PMID:26775892, PMID:27346637, PMID:28688594, PMID:31437071, PMID:8456846]",y,y +GARD:0012036,Orphanet,85162,ORPHA:85162,7,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:24643461],y,y +GARD:0012036,Orphanet,85162,ORPHA:85162,7,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:24643461],y,y +GARD:0012036,Orphanet,85162,ORPHA:85162,7,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,[PMID:24643461],y,y +GARD:0012036,Orphanet,85162,ORPHA:85162,7,HP:0002380,Fasciculations,Very frequent (99-80%),TAS,,,,[PMID:24643461],y,y +GARD:0012036,Orphanet,85162,ORPHA:85162,7,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,[PMID:24643461],y,y +GARD:0012036,Orphanet,85162,ORPHA:85162,7,HP:0003394,Muscle spasm,Very frequent (99-80%),TAS,,,,[PMID:24643461],y,y +GARD:0012036,Orphanet,85162,ORPHA:85162,7,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,[PMID:24643461],y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000047,Hypospadias,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000122,Unilateral renal agenesis,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000126,Hydronephrosis,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000200,Short lingual frenulum,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000311,Round face,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000363,Abnormal earlobe morphology,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000389,Chronic otitis media,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000396,Overfolded helix,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000470,Short neck,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000483,Astigmatism,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000577,Exotropia,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000689,Dental malocclusion,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000699,Diastema,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000735,Impaired social interactions,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000753,Autism with high cognitive abilities,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000767,Pectus excavatum,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000805,Enuresis,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000954,Single transverse palmar crease,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000957,Cafe-au-lait spot,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000960,Sacral dimple,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001382,Joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001631,Atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001650,Aortic valve stenosis,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001763,Pes planus,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0002011,Morphological central nervous system abnormality,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0002591,Polyphagia,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0002779,Tracheomalacia,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0002937,Hemivertebrae,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0002967,Cubitus valgus,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0004768,Sparse anterior scalp hair,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0004942,Aortic aneurysm,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0007772,Impaired smooth pursuit,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0008655,Aplasia/Hypoplasia of the fallopian tube,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0008684,Aplasia/hypoplasia of the uterus,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0009748,Large earlobe,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0009879,Simplified gyral pattern,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0009929,Abnormality of the columella,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0010794,Impaired visuospatial constructive cognition,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0011228,Horizontal eyebrow,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0011333,Asymmetric crying face,Occasional (29-5%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0012450,Chronic constipation,Frequent (79-30%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0012795,Abnormality of the optic disc,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0030212,Collectionism,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0045025,Narrow palpebral fissure,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0100716,Self-injurious behavior,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012076,Orphanet,96121,ORPHA:96121,95,HP:0100807,Long fingers,Very rare (<4-1%),TAS,,,,"[PMID:16236740, PMID:17400790, PMID:17666889, PMID:18337728, PMID:19249392, PMID:24722762, PMID:25428557, PMID:25900101, PMID:26333794, PMID:27615053, PMID:27617154, http://www.ncbi.nlm.nih.gov/books/NBK327268]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0000127,Renal salt wasting,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0000991,Xanthomatosis,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001114,Xanthelasma,Frequent (79-30%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001297,Stroke,Frequent (79-30%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001395,Hepatic fibrosis,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001399,Hepatic failure,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001410,Decreased liver function,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001414,Microvesicular hepatic steatosis,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001433,Hepatosplenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001677,Coronary artery atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001922,Vacuolated lymphocytes,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001941,Acidosis,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0001971,Hypersplenism,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0002040,Esophageal varix,Frequent (79-30%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0002153,Hyperkalemia,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0002361,Psychomotor deterioration,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0002570,Steatorrhea,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0003124,Hypercholesterolemia,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0003155,Elevated circulating alkaline phosphatase concentration,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0004333,Bone-marrow foam cells,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0004395,Malnutrition,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0004416,Precocious atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0006583,Fatal liver failure in infancy,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0008207,Primary adrenal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0010512,Adrenal calcification,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0011106,Hypovolemia,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0012598,Abnormal urine potassium concentration,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0012605,Hypernatriuria,Occasional (29-5%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012097,Orphanet,275761,ORPHA:275761,49,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:14008104, PMID:142699714, PMID:1516222, PMID:3565483, PMID:3740103, PMID:5642714, PMID:5787090, PMID:6478639]",y,y +GARD:0012099,Orphanet,75234,ORPHA:75234,13,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,[PMID:25852113],y,y +GARD:0012099,Orphanet,75234,ORPHA:75234,13,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,[PMID:25852113],y,y +GARD:0012099,Orphanet,75234,ORPHA:75234,13,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,[PMID:25852113],y,y +GARD:0012099,Orphanet,75234,ORPHA:75234,13,HP:0001399,Hepatic failure,Frequent (79-30%),TAS,,,,[PMID:25852113],y,y +GARD:0012099,Orphanet,75234,ORPHA:75234,13,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,[PMID:25852113],y,y +GARD:0012099,Orphanet,75234,ORPHA:75234,13,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,[PMID:25852113],y,y +GARD:0012099,Orphanet,75234,ORPHA:75234,13,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,[PMID:25852113],y,y +GARD:0012099,Orphanet,75234,ORPHA:75234,13,HP:0002040,Esophageal varix,Occasional (29-5%),TAS,,,,[PMID:25852113],y,y +GARD:0012099,Orphanet,75234,ORPHA:75234,13,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,[PMID:25852113],y,y +GARD:0012099,Orphanet,75234,ORPHA:75234,13,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,[PMID:25852113],y,y +GARD:0012099,Orphanet,75234,ORPHA:75234,13,HP:0002634,Arteriosclerosis,Frequent (79-30%),TAS,,,,[PMID:25852113],y,y +GARD:0012099,Orphanet,75234,ORPHA:75234,13,HP:0003124,Hypercholesterolemia,Frequent (79-30%),TAS,,,,[PMID:25852113],y,y +GARD:0012099,Orphanet,75234,ORPHA:75234,13,HP:0010512,Adrenal calcification,Occasional (29-5%),TAS,,,,[PMID:25852113],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0001249,Intellectual disability,Obligate (100%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002187,"Intellectual disability, profound",Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002352,Leukoencephalopathy,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0006829,Severe muscular hypotonia,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0010553,Oculogyric crisis,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0010818,Generalized tonic seizure,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0010821,Focal emotional seizure with laughing,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0011097,Epileptic spasm,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0011147,Typical absence seizure,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0011153,Focal motor seizure,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0025097,Eyelid myoclonus,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0025100,Abnormal hippocampus morphology,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0032410,Bilateral generalized polymicrogyria,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012107,Orphanet,178469,ORPHA:178469,49,HP:0200136,Oral-pharyngeal dysphagia,Occasional (29-5%),TAS,,,,[PMID:31219694],y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000133,Gonadal dysgenesis,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000320,Bird-like facies,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000546,Retinal degeneration,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000608,Macular degeneration,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000656,Ectropion,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0000992,Cutaneous photosensitivity,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001097,Keratoconjunctivitis sicca,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001197,Abnormality of prenatal development or birth,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001217,Clubbing,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001338,Partial agenesis of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001598,Concave nail,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001807,Ridged nail,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001808,Fragile nails,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001809,Split nail,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002209,Sparse scalp hair,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002293,Alopecia of scalp,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002299,Brittle hair,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002562,Low-set nipples,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002828,Multiple joint contractures,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002860,Squamous cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0002942,Thoracic kyphosis,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0003079,Defective DNA repair after ultraviolet radiation damage,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0003139,Panhypogammaglobulinemia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0006297,Enamel hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0006538,Recurrent bronchopulmonary infections,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0006970,Periventricular leukomalacia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0007034,Generalized hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0007266,Cerebral dysmyelination,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0007381,Congenital exfoliative erythroderma,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0007485,Absence of subcutaneous fat,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0007495,Prematurely aged appearance,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0007587,Numerous pigmented freckles,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0007633,Bilateral microphthalmos,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0008386,Aplasia/Hypoplasia of the nails,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0008391,Dystrophic fingernails,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0008619,Bilateral sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0010551,Paraplegia/paraparesis,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0011001,Increased bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0012760,Impaired social reciprocity,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0025356,Psychomotor retardation,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0025428,Bronchospasm,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0025548,Increased mean corpuscular hemoglobin concentration,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0045055,Tiger tail banding,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0100275,Diffuse cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012109,Orphanet,33364,ORPHA:33364,92,HP:0410219,Hypoplasia of mandible relative to maxilla,Occasional (29-5%),TAS,,,,"[PMID:1634754, PMID:18603627, PMID:21959366, PMID:22739337, PMID:27473476, PMID:29641717, PMID:4847854, PMID:5645693, PMID:984047]",y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0000122,Unilateral renal agenesis,Frequent (79-30%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0001302,Pachygyria,Frequent (79-30%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0002282,Gray matter heterotopia,Very frequent (99-80%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0003103,Abnormal cortical bone morphology,Frequent (79-30%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0007333,Hypoplasia of the frontal lobes,Frequent (79-30%),TAS,,,,[PMID:11857108],y,y +GARD:0012117,Orphanet,2512,ORPHA:2512,17,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:11857108],y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0000104,Renal agenesis,Very rare (<4-1%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0000271,Abnormality of the face,Occasional (29-5%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0000464,Abnormality of the neck,Occasional (29-5%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0000765,Abnormal thorax morphology,Occasional (29-5%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0000925,Abnormality of the vertebral column,Occasional (29-5%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0000987,Atypical scarring of skin,Occasional (29-5%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0001159,Syndactyly,Very rare (<4-1%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0001518,Small for gestational age,Very rare (<4-1%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0002088,Abnormal lung morphology,Very rare (<4-1%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0003272,Abnormal hip bone morphology,Very rare (<4-1%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0003826,Stillbirth,Occasional (29-5%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0009813,Upper limb phocomelia,Very frequent (99-80%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0010442,Polydactyly,Very rare (<4-1%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0011603,Congenital malformation of the great arteries,Very rare (<4-1%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012123,Orphanet,294975,ORPHA:294975,18,HP:0033127,Abnormality of the musculoskeletal system,Occasional (29-5%),TAS,,,,"[PMID:22002800, PMID:3890511]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0001410,Decreased liver function,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0003073,Hypoalbuminemia,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0003281,Increased circulating ferritin concentration,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0005681,Juvenile rheumatoid arthritis,Frequent (79-30%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0011118,Abnormality of tumor necrosis factor secretion,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0011900,Hypofibrinogenemia,Frequent (79-30%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0012156,Hemophagocytosis,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0012649,Increased inflammatory response,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0025435,Increased circulating lactate dehydrogenase concentration,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0030356,Increased serum interferon-gamma level,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0030782,Abnormal circulating interleukin concentration,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0030783,Increased circulating interleukin 6 concentration,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0031956,Elevated circulating aspartate aminotransferase concentration,Frequent (79-30%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0031964,Elevated circulating alanine aminotransferase concentration,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012124,Orphanet,158061,ORPHA:158061,29,HP:0040089,Abnormal natural killer cell count,Very frequent (99-80%),TAS,,,,"[PMID:28409239, PMID:30774631, PMID:31732958]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000206,Glossitis,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000276,Long face,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000319,Smooth philtrum,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000348,High forehead,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000369,Low-set ears,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000546,Retinal degeneration,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000580,Pigmentary retinopathy,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000709,Psychosis,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000751,Personality changes,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001116,Macular coloboma,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001889,Megaloblastic anemia,Very frequent (99-80%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001907,Thromboembolism,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001942,Metabolic acidosis,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001987,Hyperammonemia,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0002045,Hypothermia,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0002160,Hyperhomocystinemia,Very frequent (99-80%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0002204,Pulmonary embolism,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0002352,Leukoencephalopathy,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0002376,Developmental regression,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0002625,Deep venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0002912,Methylmalonic acidemia,Very frequent (99-80%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0002919,Ketonuria,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0003658,Hypomethioninemia,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0005575,Hemolytic-uremic syndrome,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0006827,Atrophy of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0007258,Severe demyelination of the white matter,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0008002,Abnormality of macular pigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0008765,Auditory hallucinations,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0010280,Stomatitis,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0011096,Peripheral demyelination,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0012120,Methylmalonic aciduria,Very frequent (99-80%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0012443,Abnormality of brain morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0030891,Periventricular white matter hyperintensities,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0031258,Delirium,Very rare (<4-1%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0031544,Elevated circulating palmitoleylcarnitine concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0100309,Subdural hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012128,Orphanet,79282,ORPHA:79282,75,HP:0100820,Glomerulopathy,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:28151490]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0000020,Urinary incontinence,Very rare (<4-1%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0000756,Agoraphobia,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0001298,Encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0002370,Poor coordination,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0002375,Hypokinesia,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0002493,Upper motor neuron dysfunction,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0003473,Fatigable weakness,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0003781,Excessive salivation,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0003785,Decreased CSF homovanillic acid concentration,Frequent (79-30%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0007325,Generalized dystonia,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0010553,Oculogyric crisis,Frequent (79-30%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0010818,Generalized tonic seizure,Very rare (<4-1%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0012433,Abnormal social behavior,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0012448,Delayed myelination,Very rare (<4-1%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0025269,Panic attack,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0025356,Psychomotor retardation,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0031959,Leg dystonia,Frequent (79-30%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0031960,Arm dystonia,Occasional (29-5%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012144,Orphanet,255,ORPHA:255,53,HP:0040207,Abnormal CSF biopterin concentration,Frequent (79-30%),TAS,,,,"[PMID:29066160, PMID:29948246, PMID:32185155, PMID:32872068]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0000021,Megacystis,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0000047,Hypospadias,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0000076,Vesicoureteral reflux,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0000465,Webbed neck,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0000668,Hypodontia,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0000722,Obsessive-compulsive behavior,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0000736,Short attention span,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0000752,Hyperactivity,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0000820,Abnormality of the thyroid gland,Very frequent (99-80%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0000829,Hypoparathyroidism,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0000851,Congenital hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001274,Agenesis of corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001655,Patent foramen ovale,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001955,Unexplained fevers,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002086,Abnormality of the respiratory system,Frequent (79-30%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002099,Asthma,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002186,Apraxia,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002206,Pulmonary fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002311,Incoordination,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002360,Sleep disturbance,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002389,Cavum septum pellucidum,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002527,Falls,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002679,Abnormal sella turcica morphology,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002878,Respiratory failure,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0002925,Elevated circulating thyroid-stimulating hormone concentration,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0004322,Short stature,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0008188,Thyroid dysgenesis,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0008223,Compensated hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0011780,Thyroid hemiagenesis,Occasional (29-5%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0030082,Abnormal drinking behavior,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0100738,Abnormal eating behavior,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012163,Orphanet,209905,ORPHA:209905,60,HP:0100753,Schizophrenia,Very rare (<4-1%),TAS,,,,"[PMID:19336474, PMID:22832740, PMID:23430038, PMID:24555207, PMID:24714694, PMID:25412988]",y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0002335,Agenesis of cerebellar vermis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0006913,Frontal cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,,y,y +GARD:0012166,Orphanet,228384,ORPHA:228384,24,HP:0012639,Abnormal nervous system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0000748,Inappropriate laughter,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0000817,Poor eye contact,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0002002,Deep philtrum,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0002795,Abnormal respiratory system physiology,Occasional (29-5%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0003763,Bruxism,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0003808,Abnormal muscle tone,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0006979,Sleep-wake cycle disturbance,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0009852,Broad proximal phalanges of the hand,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0010818,Generalized tonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0010841,Multifocal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0011343,Moderate global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0012171,Stereotypical hand wringing,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0012469,Infantile spasms,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012173,Orphanet,505652,ORPHA:505652,32,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:22872100, PMID:27081548]",y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0001402,Hepatocellular carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0002611,Cholestatic liver disease,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0011985,Acholic stools,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012185,Orphanet,65682,ORPHA:65682,16,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000179,Thick lower lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000356,Abnormality of the outer ear,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000589,Coloboma,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0001172,Abnormal thumb morphology,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0001780,Abnormality of toe,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0002475,Myelomeningocele,Very rare (<4-1%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0009623,Proximal placement of thumb,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0009890,High anterior hairline,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0011100,Intestinal atresia,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0011229,Broad eyebrow,Frequent (79-30%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0012810,Wide nasal base,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0030260,Microphallus,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012219,Orphanet,94065,ORPHA:94065,52,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,"[PMID:17360722, PMID:19557438, PMID:22216833, PMID:26925314]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0000641,Dysmetric saccades,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0000666,Horizontal nystagmus,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0001152,Saccadic smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0001250,Seizure,Excluded (0%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0002168,Scanning speech,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0002174,Postural tremor,Occasional (29-5%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0002495,Impaired vibratory sensation,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0003445,EMG: neuropathic changes,Occasional (29-5%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012232,Orphanet,284324,ORPHA:284324,21,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:15520412, PMID:21749694, PMID:23418007, PMID:26224725]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0000570,Abnormal saccadic eye movements,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0000597,Ophthalmoparesis,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0001271,Polyneuropathy,Very rare (<4-1%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0001272,Cerebellar atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0002086,Abnormality of the respiratory system,Very rare (<4-1%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0002493,Upper motor neuron dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0002495,Impaired vibratory sensation,Very rare (<4-1%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0003390,Sensory axonal neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0003445,EMG: neuropathic changes,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0007178,Motor polyneuropathy,Very rare (<4-1%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0007267,Chronic axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0007366,Atrophy/Degeneration affecting the brainstem,Very rare (<4-1%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0007772,Impaired smooth pursuit,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0011448,Ankle clonus,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0025402,Square-wave jerks,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012234,Orphanet,88644,ORPHA:88644,41,HP:0031960,Arm dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301553, PMID:27086870]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0002133,Status epilepticus,Obligate (100%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0002283,Global brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0002384,Focal impaired awareness seizure,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0002457,Abnormal head movements,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0007183,Focal T2 hyperintense basal ganglia lesion,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0007334,Bilateral tonic-clonic seizure with focal onset,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0010841,Multifocal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0010845,EEG with generalized slow activity,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0010850,EEG with spike-wave complexes,Occasional (29-5%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0011154,Focal autonomic seizure,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0011198,EEG with generalized epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0011468,Facial tics,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0012229,CSF pleocytosis,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0012696,Abnormal thalamic MRI signal intensity,Occasional (29-5%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0012751,Abnormal basal ganglia MRI signal intensity,Very rare (<4-1%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0020217,Focal aware motor seizure,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0025373,Interictal EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0030782,Abnormal circulating interleukin concentration,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0030915,Cerebellar edema,Occasional (29-5%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0031358,Vegetative state,Occasional (29-5%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0031475,Status epilepticus without prominent motor symptoms,Very rare (<4-1%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0032794,Myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0032867,Refractory status epilepticus,Very frequent (99-80%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0032894,Seizure precipitated by febrile infection,Very frequent (99-80%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0033716,EEG with frontal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0033717,EEG with temporal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012244,Orphanet,363558,ORPHA:363558,38,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:30482654, PMID:32372459]",y,y +GARD:0012251,Orphanet,1885,ORPHA:1885,11,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0012251,Orphanet,1885,ORPHA:1885,11,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012251,Orphanet,1885,ORPHA:1885,11,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0012251,Orphanet,1885,ORPHA:1885,11,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0012251,Orphanet,1885,ORPHA:1885,11,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0012251,Orphanet,1885,ORPHA:1885,11,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012251,Orphanet,1885,ORPHA:1885,11,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0012251,Orphanet,1885,ORPHA:1885,11,HP:0001083,Ectopia lentis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012251,Orphanet,1885,ORPHA:1885,11,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012251,Orphanet,1885,ORPHA:1885,11,HP:0009918,Ectopia pupillae,Occasional (29-5%),TAS,,,,,y,y +GARD:0012251,Orphanet,1885,ORPHA:1885,11,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0012299,Orphanet,75374,ORPHA:75374,2,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012299,Orphanet,75374,ORPHA:75374,2,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012301,Orphanet,614,ORPHA:614,2,HP:0002486,Myotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012301,Orphanet,614,ORPHA:614,2,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012312,Orphanet,85173,ORPHA:85173,13,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:10599684],y,y +GARD:0012312,Orphanet,85173,ORPHA:85173,13,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,[PMID:10599684],y,y +GARD:0012312,Orphanet,85173,ORPHA:85173,13,HP:0000078,Abnormality of the genital system,Very frequent (99-80%),TAS,,,,[PMID:10599684],y,y +GARD:0012312,Orphanet,85173,ORPHA:85173,13,HP:0000126,Hydronephrosis,Very frequent (99-80%),TAS,,,,[PMID:10599684],y,y +GARD:0012312,Orphanet,85173,ORPHA:85173,13,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,[PMID:10599684],y,y +GARD:0012312,Orphanet,85173,ORPHA:85173,13,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:10599684],y,y +GARD:0012312,Orphanet,85173,ORPHA:85173,13,HP:0000835,Adrenal hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:10599684],y,y +GARD:0012312,Orphanet,85173,ORPHA:85173,13,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,[PMID:10599684],y,y +GARD:0012312,Orphanet,85173,ORPHA:85173,13,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,[PMID:10599684],y,y +GARD:0012312,Orphanet,85173,ORPHA:85173,13,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,[PMID:10599684],y,y +GARD:0012312,Orphanet,85173,ORPHA:85173,13,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,[PMID:10599684],y,y +GARD:0012312,Orphanet,85173,ORPHA:85173,13,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:10599684],y,y +GARD:0012312,Orphanet,85173,ORPHA:85173,13,HP:0100255,Metaphyseal dysplasia,Very frequent (99-80%),TAS,,,,[PMID:10599684],y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0000009,Functional abnormality of the bladder,Very frequent (99-80%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0000818,Abnormality of the endocrine system,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0000832,Primary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0001890,Autoimmune hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0001904,Neutropenia in presence of anti-neutropil antibodies,Occasional (29-5%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0001920,Renal artery stenosis,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0001973,Autoimmune thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0002110,Bronchiectasis,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0002242,Abnormal intestine morphology,Very frequent (99-80%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0002724,Recurrent Aspergillus infections,Occasional (29-5%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0002728,Chronic mucocutaneous candidiasis,Very frequent (99-80%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0002788,Recurrent upper respiratory tract infections,Very frequent (99-80%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0002958,Immune dysregulation,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0003613,Antiphospholipid antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0004387,Enterocolitis,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0004944,Dilatation of the cerebral artery,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0004966,Medial calcification of large arteries,Occasional (29-5%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0005353,Recurrent herpes,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0005403,T lymphocytopenia,Excluded (0%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0010976,B lymphocytopenia,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0011123,Inflammatory abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0011459,Esophageal carcinoma,Occasional (29-5%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0011473,Villous atrophy,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0012163,Carotid artery dilatation,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0012182,Oropharyngeal squamous cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0030355,Abnormal serum interferon-gamma level,Occasional (29-5%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0040160,Generalized osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0100646,Thyroiditis,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0100651,Type I diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012314,Orphanet,391487,ORPHA:391487,47,HP:0100817,Renovascular hypertension,Frequent (79-30%),TAS,,,,"[PMID:21714643, PMID:23534974, PMID:23541320]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0000297,Facial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0000543,Optic disc pallor,Very rare (<4-1%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0000548,Cone/cone-rod dystrophy,Very rare (<4-1%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0000559,Corneal scarring,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0000577,Exotropia,Very rare (<4-1%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0000580,Pigmentary retinopathy,Very rare (<4-1%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0000633,Decreased lacrimation,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0000657,Oculomotor apraxia,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001382,Joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001413,Micronodular cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001414,Microvesicular hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001488,Bilateral ptosis,Very rare (<4-1%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001771,Achilles tendon contracture,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0001929,Reduced factor XI activity,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002059,Cerebral atrophy,Very frequent (99-80%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002171,Gliosis,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002305,Athetosis,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002345,Action tremor,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002487,Hyperkinetic movements,Very frequent (99-80%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002659,Increased susceptibility to fractures,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002673,Coxa valga,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002909,Generalized aminoaciduria,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0003086,Acromesomelia,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0003121,Limb joint contracture,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0003447,Axonal loss,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0003563,Decreased LDL cholesterol concentration,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0003785,Decreased CSF homovanillic acid concentration,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0003834,Shoulder dislocation,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0005484,Secondary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0005543,Reduced protein C activity,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0007141,Sensorimotor neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0008151,Prolonged prothrombin time,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0010821,Focal emotional seizure with laughing,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0011167,Focal tonic seizure,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0011496,Corneal neovascularization,Very rare (<4-1%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0011900,Hypofibrinogenemia,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0011954,Nodular regenerative hyperplasia of liver,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0012153,Hypotriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0012340,Decreased resting energy expenditure,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0012447,Abnormal myelination,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0012450,Chronic constipation,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0020037,Astasia,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0025336,Delayed ability to sit,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0025401,Staring gaze,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0025455,Decreased CSF 5-hydroxyindolacetic acid,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0025457,Decreased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0025458,Decreased CSF albumin concentration,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0030001,Lagopthalmos,Very rare (<4-1%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0030194,Fatigable weakness of speech muscles,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0030906,Suck reflex,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0031008,Lingual dystonia,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0031051,Tarsal sclerosis,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0031146,Impaired oral bolus formation,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0031162,Impaired oropharyngeal swallow response,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0040209,Decreased CSF biopterin level,Frequent (79-30%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012315,Orphanet,404454,ORPHA:404454,89,HP:0100899,Sclerosis of finger phalanx,Occasional (29-5%),TAS,,,,"[PMID:24651605, PMID:27388694, PMID:29419975, PMID:31217022]",y,y +GARD:0012328,Orphanet,64752,ORPHA:64752,11,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:14976160, PMID:20978020]",y,y +GARD:0012328,Orphanet,64752,ORPHA:64752,11,HP:0000168,Abnormality of the gingiva,Frequent (79-30%),TAS,,,,"[PMID:14976160, PMID:20978020]",y,y +GARD:0012328,Orphanet,64752,ORPHA:64752,11,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,"[PMID:14976160, PMID:20978020]",y,y +GARD:0012328,Orphanet,64752,ORPHA:64752,11,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:14976160, PMID:20978020]",y,y +GARD:0012328,Orphanet,64752,ORPHA:64752,11,HP:0000970,Anhidrosis,Frequent (79-30%),TAS,,,,"[PMID:14976160, PMID:20978020]",y,y +GARD:0012328,Orphanet,64752,ORPHA:64752,11,HP:0001058,Poor wound healing,Frequent (79-30%),TAS,,,,"[PMID:14976160, PMID:20978020]",y,y +GARD:0012328,Orphanet,64752,ORPHA:64752,11,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:14976160, PMID:20978020]",y,y +GARD:0012328,Orphanet,64752,ORPHA:64752,11,HP:0002661,Painless fractures due to injury,Frequent (79-30%),TAS,,,,"[PMID:14976160, PMID:20978020]",y,y +GARD:0012328,Orphanet,64752,ORPHA:64752,11,HP:0007021,Pain insensitivity,Frequent (79-30%),TAS,,,,"[PMID:14976160, PMID:20978020]",y,y +GARD:0012328,Orphanet,64752,ORPHA:64752,11,HP:0007249,Decreased number of small peripheral myelinated nerve fibers,Frequent (79-30%),TAS,,,,"[PMID:14976160, PMID:20978020]",y,y +GARD:0012328,Orphanet,64752,ORPHA:64752,11,HP:0010829,Impaired temperature sensation,Frequent (79-30%),TAS,,,,"[PMID:14976160, PMID:20978020]",y,y +GARD:0012338,Orphanet,859,ORPHA:859,12,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012338,Orphanet,859,ORPHA:859,12,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012338,Orphanet,859,ORPHA:859,12,HP:0001876,Pancytopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012338,Orphanet,859,ORPHA:859,12,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012338,Orphanet,859,ORPHA:859,12,HP:0001919,Acute kidney injury,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012338,Orphanet,859,ORPHA:859,12,HP:0001980,Megaloblastic bone marrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012338,Orphanet,859,ORPHA:859,12,HP:0002720,Decreased circulating IgA level,Frequent (79-30%),TAS,,,,,y,y +GARD:0012338,Orphanet,859,ORPHA:859,12,HP:0002850,Decreased circulating total IgM,Frequent (79-30%),TAS,,,,,y,y +GARD:0012338,Orphanet,859,ORPHA:859,12,HP:0003220,Abnormality of chromosome stability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012338,Orphanet,859,ORPHA:859,12,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,,y,y +GARD:0012338,Orphanet,859,ORPHA:859,12,HP:0004315,Decreased circulating IgG level,Frequent (79-30%),TAS,,,,,y,y +GARD:0012338,Orphanet,859,ORPHA:859,12,HP:0012120,Methylmalonic aciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000011,Neurogenic bladder,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000599,Abnormality of the frontal hairline,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0001348,Brisk reflexes,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0002078,Truncal ataxia,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0002506,Diffuse cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0003160,Abnormal isoelectric focusing of serum transferrin,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0007366,Atrophy/Degeneration affecting the brainstem,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0009473,Joint contracture of the hand,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0012762,Cerebral white matter atrophy,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0040019,Finger clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0100678,Premature skin wrinkling,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012348,Orphanet,263487,ORPHA:263487,46,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:19690088, PMID:20301507, PMID:23228021]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0000975,Hyperhidrosis,Very rare (<4-1%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0001171,Split hand,Very rare (<4-1%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0001256,"Intellectual disability, mild",Very rare (<4-1%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0001328,Specific learning disability,Very rare (<4-1%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0001771,Achilles tendon contracture,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0002166,Impaired vibration sensation in the lower limbs,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0002273,Tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0002356,Writer's cramp,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0002411,Myokymia,Very frequent (99-80%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0002486,Myotonia,Very frequent (99-80%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0002505,Loss of ambulation,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0002943,Thoracic scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0003376,Steppage gait,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0003390,Sensory axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0003409,Distal sensory impairment of all modalities,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0003438,Absent Achilles reflex,Frequent (79-30%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0003444,EMG: chronic denervation signs,Very frequent (99-80%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0003552,Muscle stiffness,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0003710,Exercise-induced muscle cramps,Frequent (79-30%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0003760,Percussion-induced rapid rolling muscle contractions,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0004686,Short third metatarsal,Very rare (<4-1%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0007002,Motor axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0007178,Motor polyneuropathy,Frequent (79-30%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0007289,Limb fasciculations,Frequent (79-30%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0008944,Distal lower limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0008954,Intrinsic hand muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0008991,Exercise-induced leg cramps,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0009005,Weakness of the intrinsic hand muscles,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0009027,Foot dorsiflexor weakness,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0009049,Peroneal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0009077,Weakness of long finger extensor muscles,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0009130,Hand muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0012899,Handgrip myotonia,Frequent (79-30%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0030198,Fatigable weakness of distal limb muscles,Frequent (79-30%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0100288,EMG: myokymic discharges,Very frequent (99-80%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012353,Orphanet,324442,ORPHA:324442,47,HP:0100490,Camptodactyly of finger,Very rare (<4-1%),TAS,,,,"[PMID:1851512, PMID:22961002, PMID:24131582, PMID:30001929, PMID:30006059]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0000822,Hypertension,Obligate (100%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0002150,Hypercalciuria,Occasional (29-5%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0008221,Adrenal hyperplasia,Very frequent (99-80%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0011739,Dexamethasone-suppressible primary hyperaldosteronism,Excluded (0%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0011740,Glucocortocoid-insensitive primary hyperaldosteronism,Very frequent (99-80%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0040084,Abnormal circulating renin,Obligate (100%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012362,Orphanet,251274,ORPHA:251274,17,HP:0200114,Metabolic alkalosis,Occasional (29-5%),TAS,,,,"[PMID:18505761, PMID:21311022, PMID:23229280, PMID:26934393, PMID:27036860, PMID:27403928]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0002370,Poor coordination,Occasional (29-5%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0002396,Cogwheel rigidity,Occasional (29-5%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0006938,Impaired vibration sensation at ankles,Frequent (79-30%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012365,Orphanet,98772,ORPHA:98772,19,HP:0007772,Impaired smooth pursuit,Occasional (29-5%),TAS,,,,"[PMID:12764052, PMID:23280837]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0000467,Neck muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0000473,Torticollis,Occasional (29-5%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0000602,Ophthalmoplegia,Excluded (0%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0000639,Nystagmus,Excluded (0%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0000641,Dysmetric saccades,Occasional (29-5%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0007024,Pseudobulbar paralysis,Occasional (29-5%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012366,Orphanet,276193,ORPHA:276193,18,HP:0009830,Peripheral neuropathy,Excluded (0%),TAS,,,,"[PMID:21106500, PMID:25253745, http://www.ncbi.nlm.nih.gov/books/NBK1138]",y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0000514,Slow saccadic eye movements,Frequent (79-30%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0000651,Diplopia,Very rare (<4-1%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0001308,Tongue fasciculations,Frequent (79-30%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0002070,Limb ataxia,Very frequent (99-80%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0002076,Migraine,Very rare (<4-1%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0002078,Truncal ataxia,Very frequent (99-80%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0002080,Intention tremor,Very rare (<4-1%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0002321,Vertigo,Very rare (<4-1%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0002346,Head tremor,Very rare (<4-1%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0002378,Hand tremor,Very rare (<4-1%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0002607,Bowel incontinence,Very rare (<4-1%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0007001,Loss of Purkinje cells in the cerebellar vermis,Frequent (79-30%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0007018,Attention deficit hyperactivity disorder,Very rare (<4-1%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0012473,Tongue atrophy,Frequent (79-30%),TAS,,,,[PMID:22492559],y,y +GARD:0012367,Orphanet,276198,ORPHA:276198,27,HP:0045084,Limb myoclonus,Very rare (<4-1%),TAS,,,,[PMID:22492559],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0000549,Abnormal conjugate eye movement,Very frequent (99-80%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0000666,Horizontal nystagmus,Frequent (79-30%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0002168,Scanning speech,Frequent (79-30%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0002396,Cogwheel rigidity,Very frequent (99-80%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0002406,Limb dysmetria,Frequent (79-30%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0002527,Falls,Very frequent (99-80%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,[PMID:23700170],y,y +GARD:0012368,Orphanet,363710,ORPHA:363710,16,HP:0100275,Diffuse cerebellar atrophy,Frequent (79-30%),TAS,,,,[PMID:23700170],y,y +GARD:0012369,Orphanet,423296,ORPHA:423296,11,HP:0000514,Slow saccadic eye movements,Frequent (79-30%),TAS,,,,[PMID:25065913],y,y +GARD:0012369,Orphanet,423296,ORPHA:423296,11,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,[PMID:25065913],y,y +GARD:0012369,Orphanet,423296,ORPHA:423296,11,HP:0000708,Behavioral abnormality,Very rare (<4-1%),TAS,,,,[PMID:25065913],y,y +GARD:0012369,Orphanet,423296,ORPHA:423296,11,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:25065913],y,y +GARD:0012369,Orphanet,423296,ORPHA:423296,11,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,[PMID:25065913],y,y +GARD:0012369,Orphanet,423296,ORPHA:423296,11,HP:0001337,Tremor,Very rare (<4-1%),TAS,,,,[PMID:25065913],y,y +GARD:0012369,Orphanet,423296,ORPHA:423296,11,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,[PMID:25065913],y,y +GARD:0012369,Orphanet,423296,ORPHA:423296,11,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,[PMID:25065913],y,y +GARD:0012369,Orphanet,423296,ORPHA:423296,11,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,[PMID:25065913],y,y +GARD:0012369,Orphanet,423296,ORPHA:423296,11,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,[PMID:25065913],y,y +GARD:0012369,Orphanet,423296,ORPHA:423296,11,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,[PMID:25065913],y,y +GARD:0012371,Orphanet,423275,ORPHA:423275,14,HP:0000511,Vertical supranuclear gaze palsy,Frequent (79-30%),TAS,,,,[PMID:25062847],y,y +GARD:0012371,Orphanet,423275,ORPHA:423275,14,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:25062847],y,y +GARD:0012371,Orphanet,423275,ORPHA:423275,14,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,[PMID:25062847],y,y +GARD:0012371,Orphanet,423275,ORPHA:423275,14,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:25062847],y,y +GARD:0012371,Orphanet,423275,ORPHA:423275,14,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,[PMID:25062847],y,y +GARD:0012371,Orphanet,423275,ORPHA:423275,14,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,[PMID:25062847],y,y +GARD:0012371,Orphanet,423275,ORPHA:423275,14,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,[PMID:25062847],y,y +GARD:0012371,Orphanet,423275,ORPHA:423275,14,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,[PMID:25062847],y,y +GARD:0012371,Orphanet,423275,ORPHA:423275,14,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,[PMID:25062847],y,y +GARD:0012371,Orphanet,423275,ORPHA:423275,14,HP:0002168,Scanning speech,Frequent (79-30%),TAS,,,,[PMID:25062847],y,y +GARD:0012371,Orphanet,423275,ORPHA:423275,14,HP:0002313,Spastic paraparesis,Frequent (79-30%),TAS,,,,[PMID:25062847],y,y +GARD:0012371,Orphanet,423275,ORPHA:423275,14,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,[PMID:25062847],y,y +GARD:0012371,Orphanet,423275,ORPHA:423275,14,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,[PMID:25062847],y,y +GARD:0012371,Orphanet,423275,ORPHA:423275,14,HP:0006879,Pontocerebellar atrophy,Frequent (79-30%),TAS,,,,[PMID:25062847],y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0002200,Pseudobulbar signs,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0002322,Resting tremor,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0002346,Head tremor,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0002476,Primitive reflex,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0002529,Neuronal loss in central nervous system,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0002921,Abnormality of the cerebrospinal fluid,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0003287,Abnormality of mitochondrial metabolism,Frequent (79-30%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0003550,Predominantly lower limb lymphedema,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0007082,Dilated third ventricle,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0007366,Atrophy/Degeneration affecting the brainstem,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012372,Orphanet,314404,ORPHA:314404,28,HP:0030050,Narcolepsy,Very frequent (99-80%),TAS,,,,"[PMID:10599806, PMID:22328086, PMID:8747854]",y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0000046,Small scrotum,Very frequent (99-80%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0000602,Ophthalmoplegia,Frequent (79-30%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0001522,Death in infancy,Very frequent (99-80%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0001695,Cardiac arrest,Very frequent (99-80%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0002045,Hypothermia,Very frequent (99-80%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0002793,Abnormal pattern of respiration,Very frequent (99-80%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0010535,Sleep apnea,Very frequent (99-80%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,[PMID:15273283],y,y +GARD:0012382,Orphanet,168593,ORPHA:168593,17,HP:0012332,Abnormal autonomic nervous system physiology,Very frequent (99-80%),TAS,,,,[PMID:15273283],y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0000054,Micropenis,Very rare (<4-1%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0000653,Sparse eyelashes,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0001337,Tremor,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0002937,Hemivertebrae,Very rare (<4-1%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0007302,Bipolar affective disorder,Occasional (29-5%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0009088,Speech articulation difficulties,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0009553,Abnormality of the hairline,Occasional (29-5%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0009891,Underdeveloped supraorbital ridges,Occasional (29-5%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0012751,Abnormal basal ganglia MRI signal intensity,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0030800,Abnormal visual accommodation,Frequent (79-30%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0045082,Decreased body mass index,Very frequent (99-80%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012388,Orphanet,370079,ORPHA:370079,38,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,"[PMID:19755429, PMID:19914906]",y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0003496,Increased circulating IgM level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012390,Orphanet,37748,ORPHA:37748,21,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0000253,Progressive microcephaly,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0000817,Poor eye contact,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0001644,Dilated cardiomyopathy,Very frequent (99-80%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0003323,Progressive muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0003642,Type I transferrin isoform profile,Very frequent (99-80%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0006829,Severe muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0008064,Ichthyosis,Frequent (79-30%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0010841,Multifocal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0010845,EEG with generalized slow activity,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0011342,Mild global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0025335,Delayed ability to stand,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0031319,Cardiomyocyte hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0031329,Interstitial cardiac fibrosis,Frequent (79-30%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012393,Orphanet,91131,ORPHA:91131,32,HP:0031936,Delayed ability to walk,Occasional (29-5%),TAS,,,,"[PMID:22242004, PMID:23890587]",y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0000932,Abnormal posterior cranial fossa morphology,Occasional (29-5%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0001250,Seizure,Obligate (100%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0001252,Hypotonia,Obligate (100%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0001263,Global developmental delay,Obligate (100%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0001928,Abnormality of coagulation,Frequent (79-30%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0001977,Abnormal thrombosis,Frequent (79-30%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0002401,Stroke-like episode,Occasional (29-5%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0003186,Inverted nipples,Frequent (79-30%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0007146,Bilateral basal ganglia lesions,Occasional (29-5%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:23111317],y,y +GARD:0012394,Orphanet,244310,ORPHA:244310,22,HP:0030890,Hyperintensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,[PMID:23111317],y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0001644,Dilated cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0002401,Stroke-like episode,Frequent (79-30%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0003560,Muscular dystrophy,Frequent (79-30%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0003749,Pelvic girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0003805,Rimmed vacuoles,Frequent (79-30%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0008331,Elevated creatine kinase after exercise,Frequent (79-30%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0008981,Calf muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0012363,Decreased sialylation of O-linked protein glycosylation,Very frequent (99-80%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012395,Orphanet,263494,ORPHA:263494,15,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:10835346, PMID:19576565]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0000735,Impaired social interactions,Very frequent (99-80%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0002179,Opisthotonus,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0002282,Gray matter heterotopia,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0002375,Hypokinesia,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0002509,Limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0002572,Episodic vomiting,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0003160,Abnormal isoelectric focusing of serum transferrin,Very frequent (99-80%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0003642,Type I transferrin isoform profile,Very frequent (99-80%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0005968,Temperature instability,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0008000,Decreased corneal reflex,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0009124,Abnormal adipose tissue morphology,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0010851,EEG with burst suppression,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0011842,Abnormal skeletal morphology,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012396,Orphanet,280071,ORPHA:280071,40,HP:0012762,Cerebral white matter atrophy,Occasional (29-5%),TAS,,,,"[PMID:20080937, PMID:20301507, PMID:22213132, PMID:28122681, PMID:3067669]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0000365,Hearing impairment,Excluded (0%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0000589,Coloboma,Frequent (79-30%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0000677,Oligodontia,Excluded (0%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0000982,Palmoplantar keratoderma,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0000998,Hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0001595,Abnormal hair morphology,Excluded (0%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0001928,Abnormality of coagulation,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0001935,Microcytic anemia,Frequent (79-30%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0001976,Reduced antithrombin III activity,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0002334,Abnormal cerebellar vermis morphology,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0003642,Type I transferrin isoform profile,Very frequent (99-80%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0005107,Abnormal sacrum morphology,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0005585,Spotty hyperpigmentation,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0007766,Optic disc hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0008064,Ichthyosis,Frequent (79-30%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012397,Orphanet,324737,ORPHA:324737,34,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:18271001, PMID:20301507, PMID:20637498, PMID:27480077]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0000565,Esotropia,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0000832,Primary hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0001337,Tremor,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0001397,Hepatic steatosis,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0003256,Abnormality of the coagulation cascade,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0003429,CNS hypomyelination,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0003642,Type I transferrin isoform profile,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0007301,Oromotor apraxia,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0009125,Lipodystrophy,Occasional (29-5%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0012593,Nephrotic range proteinuria,Very rare (<4-1%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012398,Orphanet,300536,ORPHA:300536,23,HP:0410018,Recurrent ear infections,Very frequent (99-80%),TAS,,,,"[PMID:17584079, PMID:19765534, PMID:22305527, PMID:23730680, PMID:24555185, PMID:25192513, PMID:28726068]",y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0000331,Short chin,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0000717,Autism,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0000817,Poor eye contact,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0002283,Global brain atrophy,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0002521,Hypsarrhythmia,Frequent (79-30%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0004325,Decreased body weight,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0012443,Abnormality of brain morphology,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0012469,Infantile spasms,Obligate (100%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0030047,Abnormal lateral ventricle morphology,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012401,Orphanet,324422,ORPHA:324422,19,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,[PMID:26138355],y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0000474,Thickened nuchal skin fold,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0000938,Osteopenia,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0000951,Abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001305,Dandy-Walker malformation,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001382,Joint hypermobility,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001636,Tetralogy of Fallot,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001840,Metatarsus adductus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002020,Gastroesophageal reflux,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002086,Abnormality of the respiratory system,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002418,Abnormal midbrain morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002521,Hypsarrhythmia,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002539,Cortical dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002673,Coxa valga,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002686,Prenatal maternal abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002715,Abnormality of the immune system,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0002925,Elevated circulating thyroid-stimulating hormone concentration,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0003121,Limb joint contracture,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0005736,Short tibia,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0006956,Dilation of lateral ventricles,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0007366,Atrophy/Degeneration affecting the brainstem,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0007704,Paroxysmal involuntary eye movements,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0008695,Transient nephrotic syndrome,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0011185,EEG with focal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0011314,Abnormality of long bone morphology,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0012210,Abnormal renal morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0012345,Abnormal glycosylation,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0012348,Decreased galactosylation of N-linked protein glycosylation,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0012363,Decreased sialylation of O-linked protein glycosylation,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0012469,Infantile spasms,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0012762,Cerebral white matter atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0012803,Anisometropia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0025053,Elevated brain N-acetyl aspartate level by MRS,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0025484,Increased circulating thyroglobulin level,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0025517,Hypoplastic hippocampus,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0030043,Hip subluxation,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0040288,Nasogastric tube feeding,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0045060,Aplasia/hypoplasia involving bones of the extremities,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0100490,Camptodactyly of finger,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012403,Orphanet,356961,ORPHA:356961,74,HP:0200012,Short corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:23561849, PMID:30194038, PMID:30746764, PMID:30817854]",y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0000252,Microcephaly,Obligate (100%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0000687,Widely spaced teeth,Very frequent (99-80%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0001249,Intellectual disability,Obligate (100%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0001263,Global developmental delay,Obligate (100%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0001290,Generalized hypotonia,Obligate (100%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0001331,Absent septum pellucidum,Occasional (29-5%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0001928,Abnormality of coagulation,Occasional (29-5%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0001999,Abnormal facial shape,Obligate (100%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0002518,Abnormal periventricular white matter morphology,Occasional (29-5%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0003256,Abnormality of the coagulation cascade,Very rare (<4-1%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0011024,Abnormality of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0011339,Abnormality of upper lip vermillion,Very frequent (99-80%),TAS,,,,[PMID:26264460],y,y +GARD:0012405,Orphanet,370927,ORPHA:370927,28,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,[PMID:26264460],y,y +GARD:0012409,Orphanet,238459,ORPHA:238459,13,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,[PMID:11157507],y,y +GARD:0012409,Orphanet,238459,ORPHA:238459,13,HP:0001875,Neutropenia,Very frequent (99-80%),TAS,,,,[PMID:11157507],y,y +GARD:0012409,Orphanet,238459,ORPHA:238459,13,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,[PMID:11157507],y,y +GARD:0012409,Orphanet,238459,ORPHA:238459,13,HP:0001902,Giant platelets,Very frequent (99-80%),TAS,,,,[PMID:11157507],y,y +GARD:0012409,Orphanet,238459,ORPHA:238459,13,HP:0001933,Subcutaneous hemorrhage,Very frequent (99-80%),TAS,,,,[PMID:11157507],y,y +GARD:0012409,Orphanet,238459,ORPHA:238459,13,HP:0002090,Pneumonia,Very frequent (99-80%),TAS,,,,[PMID:11157507],y,y +GARD:0012409,Orphanet,238459,ORPHA:238459,13,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,[PMID:11157507],y,y +GARD:0012409,Orphanet,238459,ORPHA:238459,13,HP:0003010,Prolonged bleeding time,Very frequent (99-80%),TAS,,,,[PMID:11157507],y,y +GARD:0012409,Orphanet,238459,ORPHA:238459,13,HP:0011883,Abnormal platelet granules,Very frequent (99-80%),TAS,,,,[PMID:11157507],y,y +GARD:0012409,Orphanet,238459,ORPHA:238459,13,HP:0012143,Abnormal megakaryocyte morphology,Very frequent (99-80%),TAS,,,,[PMID:11157507],y,y +GARD:0012409,Orphanet,238459,ORPHA:238459,13,HP:0012418,Hypoxemia,Very frequent (99-80%),TAS,,,,[PMID:11157507],y,y +GARD:0012409,Orphanet,238459,ORPHA:238459,13,HP:0040223,Pulmonary hemorrhage,Very frequent (99-80%),TAS,,,,[PMID:11157507],y,y +GARD:0012409,Orphanet,238459,ORPHA:238459,13,HP:0100658,Cellulitis,Very frequent (99-80%),TAS,,,,[PMID:11157507],y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0000253,Progressive microcephaly,Occasional (29-5%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0001137,Alternating esotropia,Occasional (29-5%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0002243,Protein-losing enteropathy,Frequent (79-30%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0006846,Acute encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0007267,Chronic axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0007366,Atrophy/Degeneration affecting the brainstem,Occasional (29-5%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0007420,Spontaneous hematomas,Occasional (29-5%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0008151,Prolonged prothrombin time,Occasional (29-5%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012411,Orphanet,95428,ORPHA:95428,24,HP:0012537,Food intolerance,Frequent (79-30%),TAS,,,,"[PMID:17220172, PMID:17331980, PMID:20301507]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0001394,Cirrhosis,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0002254,Intermittent diarrhea,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0003124,Hypercholesterolemia,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0003256,Abnormality of the coagulation cascade,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0004798,Recurrent infection of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0006583,Fatal liver failure in infancy,Occasional (29-5%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0006892,Frontotemporal cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0008935,Generalized neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0011172,Complex febrile seizure,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0012301,Type II transferrin isoform profile,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0012347,Abnormal protein N-linked glycosylation,Very frequent (99-80%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0012358,Abnormal protein O-linked glycosylation,Very frequent (99-80%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0040187,Neonatal sepsis,Occasional (29-5%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012412,Orphanet,263501,ORPHA:263501,33,HP:0100874,Thick hair,Frequent (79-30%),TAS,,,,"[PMID:16356446, PMID:19494034, PMID:21185756]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0000243,Trigonocephaly,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0000253,Progressive microcephaly,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0001976,Reduced antithrombin III activity,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0002002,Deep philtrum,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0002058,Myopathic facies,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0002518,Abnormal periventricular white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0003241,External genital hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0003642,Type I transferrin isoform profile,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0005781,Contractures of the large joints,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0007179,Absent smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0010851,EEG with burst suppression,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0011169,Generalized clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0012762,Cerebral white matter atrophy,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012416,Orphanet,329178,ORPHA:329178,40,HP:0200134,Epileptic encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:19901254, PMID:20301507, PMID:23109149, PMID:26453362]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000276,Long face,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000286,Epicanthus,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000307,Pointed chin,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000331,Short chin,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000527,Long eyelashes,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0000973,Cutis laxa,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0001382,Joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0001956,Truncal obesity,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0002322,Resting tremor,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0002591,Polyphagia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0004209,Clinodactyly of the 5th finger,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0004523,Long eyebrows,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0004691,2-3 toe syndactyly,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0005469,Flat occiput,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0007165,Periventricular heterotopia,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0007565,Multiple cafe-au-lait spots,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0010801,Underdeveloped nasolabial fold,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0010814,Abnormal position of hair whorl,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0012301,Type II transferrin isoform profile,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0012471,Thick vermilion border,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0012472,Eclabion,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012417,Orphanet,397941,ORPHA:397941,53,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:21763484, PMID:24348268, PMID:2990835]",y,y +GARD:0012426,Orphanet,1229,ORPHA:1229,7,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012426,Orphanet,1229,ORPHA:1229,7,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012426,Orphanet,1229,ORPHA:1229,7,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012426,Orphanet,1229,ORPHA:1229,7,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012426,Orphanet,1229,ORPHA:1229,7,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0012426,Orphanet,1229,ORPHA:1229,7,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012426,Orphanet,1229,ORPHA:1229,7,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0012428,Orphanet,280779,ORPHA:280779,10,HP:0000967,Petechiae,Very frequent (99-80%),TAS,,,,"[PMID:20451292, PMID:26829992, PMID:26955587]",y,y +GARD:0012428,Orphanet,280779,ORPHA:280779,10,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,"[PMID:20451292, PMID:26829992, PMID:26955587]",y,y +GARD:0012428,Orphanet,280779,ORPHA:280779,10,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,"[PMID:20451292, PMID:26829992, PMID:26955587]",y,y +GARD:0012428,Orphanet,280779,ORPHA:280779,10,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:20451292, PMID:26829992, PMID:26955587]",y,y +GARD:0012428,Orphanet,280779,ORPHA:280779,10,HP:0001939,Abnormality of metabolism/homeostasis,Frequent (79-30%),TAS,,,,"[PMID:20451292, PMID:26829992, PMID:26955587]",y,y +GARD:0012428,Orphanet,280779,ORPHA:280779,10,HP:0007394,Prominent superficial blood vessels,Very frequent (99-80%),TAS,,,,"[PMID:20451292, PMID:26829992, PMID:26955587]",y,y +GARD:0012428,Orphanet,280779,ORPHA:280779,10,HP:0007489,Diffuse telangiectasia,Obligate (100%),TAS,,,,"[PMID:20451292, PMID:26829992, PMID:26955587]",y,y +GARD:0012428,Orphanet,280779,ORPHA:280779,10,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,"[PMID:20451292, PMID:26829992, PMID:26955587]",y,y +GARD:0012428,Orphanet,280779,ORPHA:280779,10,HP:0011276,Vascular skin abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20451292, PMID:26829992, PMID:26955587]",y,y +GARD:0012428,Orphanet,280779,ORPHA:280779,10,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,"[PMID:20451292, PMID:26829992, PMID:26955587]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0000762,Decreased nerve conduction velocity,Very frequent (99-80%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0001761,Pes cavus,Very frequent (99-80%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0002378,Hand tremor,Very frequent (99-80%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0002936,Distal sensory impairment,Very frequent (99-80%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0003376,Steppage gait,Frequent (79-30%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0003393,Thenar muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0003438,Absent Achilles reflex,Very frequent (99-80%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0003482,EMG: axonal abnormality,Very frequent (99-80%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0007141,Sensorimotor neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0007340,Lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012445,Orphanet,352675,ORPHA:352675,16,HP:0008944,Distal lower limb amyotrophy,Very frequent (99-80%),TAS,,,,"[PMID:23297365, PMID:26801680]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0000762,Decreased nerve conduction velocity,Excluded (0%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0000764,Peripheral axonal degeneration,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0000765,Abnormal thorax morphology,Occasional (29-5%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0000925,Abnormality of the vertebral column,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0001171,Split hand,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0001604,Vocal cord paresis,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0002495,Impaired vibratory sensation,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0002505,Loss of ambulation,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0002936,Distal sensory impairment,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0003447,Axonal loss,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0003731,Quadriceps muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0006858,Impaired distal proprioception,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0007141,Sensorimotor neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0007233,Clusters of axonal regeneration,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0007249,Decreased number of small peripheral myelinated nerve fibers,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0007267,Chronic axonal neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0007328,Impaired pain sensation,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0008954,Intrinsic hand muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0008959,Distal upper limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0008994,Proximal muscle weakness in lower limbs,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0008997,Proximal muscle weakness in upper limbs,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0010830,Impaired tactile sensation,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0011096,Peripheral demyelination,Very frequent (99-80%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0011727,Peroneal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0030237,Hand muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012448,Orphanet,101097,ORPHA:101097,37,HP:0031629,Impaired tandem gait,Frequent (79-30%),TAS,,,,"[PMID:12821518, PMID:28495047]",y,y +GARD:0012469,Orphanet,35706,ORPHA:35706,13,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:28766179, PMID:29421601, PMID:32779420]",y,y +GARD:0012469,Orphanet,35706,ORPHA:35706,13,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:28766179, PMID:29421601, PMID:32779420]",y,y +GARD:0012469,Orphanet,35706,ORPHA:35706,13,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:28766179, PMID:29421601, PMID:32779420]",y,y +GARD:0012469,Orphanet,35706,ORPHA:35706,13,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:28766179, PMID:29421601, PMID:32779420]",y,y +GARD:0012469,Orphanet,35706,ORPHA:35706,13,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:28766179, PMID:29421601, PMID:32779420]",y,y +GARD:0012469,Orphanet,35706,ORPHA:35706,13,HP:0001993,Ketoacidosis,Occasional (29-5%),TAS,,,,"[PMID:28766179, PMID:29421601, PMID:32779420]",y,y +GARD:0012469,Orphanet,35706,ORPHA:35706,13,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:28766179, PMID:29421601, PMID:32779420]",y,y +GARD:0012469,Orphanet,35706,ORPHA:35706,13,HP:0002518,Abnormal periventricular white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:28766179, PMID:29421601, PMID:32779420]",y,y +GARD:0012469,Orphanet,35706,ORPHA:35706,13,HP:0002919,Ketonuria,Occasional (29-5%),TAS,,,,"[PMID:28766179, PMID:29421601, PMID:32779420]",y,y +GARD:0012469,Orphanet,35706,ORPHA:35706,13,HP:0003150,Glutaric aciduria,Obligate (100%),TAS,,,,"[PMID:28766179, PMID:29421601, PMID:32779420]",y,y +GARD:0012469,Orphanet,35706,ORPHA:35706,13,HP:0003530,Elevated circulating glutaric acid concentration,Occasional (29-5%),TAS,,,,"[PMID:28766179, PMID:29421601, PMID:32779420]",y,y +GARD:0012469,Orphanet,35706,ORPHA:35706,13,HP:0011021,Abnormality of circulating enzyme level,Very frequent (99-80%),TAS,,,,"[PMID:28766179, PMID:29421601, PMID:32779420]",y,y +GARD:0012469,Orphanet,35706,ORPHA:35706,13,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:28766179, PMID:29421601, PMID:32779420]",y,y +GARD:0012474,Orphanet,75392,ORPHA:75392,12,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0012474,Orphanet,75392,ORPHA:75392,12,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012474,Orphanet,75392,ORPHA:75392,12,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012474,Orphanet,75392,ORPHA:75392,12,HP:0000704,Periodontitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012474,Orphanet,75392,ORPHA:75392,12,HP:0000974,Hyperextensible skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0012474,Orphanet,75392,ORPHA:75392,12,HP:0001034,Hypermelanotic macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012474,Orphanet,75392,ORPHA:75392,12,HP:0001075,Atrophic scars,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012474,Orphanet,75392,ORPHA:75392,12,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012474,Orphanet,75392,ORPHA:75392,12,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0012474,Orphanet,75392,ORPHA:75392,12,HP:0006308,Atrophy of alveolar ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0012474,Orphanet,75392,ORPHA:75392,12,HP:0006323,Premature loss of primary teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0012474,Orphanet,75392,ORPHA:75392,12,HP:0006349,Agenesis of permanent teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000377,Abnormal pinna morphology,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000378,Cupped ear,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000453,Choanal atresia,Frequent (79-30%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000588,Optic disc coloboma,Frequent (79-30%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012486,Orphanet,52055,ORPHA:52055,24,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:14556245],y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0000384,Preauricular skin tag,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0001883,Talipes,Frequent (79-30%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0002079,Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0006532,Recurrent pneumonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0012487,Orphanet,1495,ORPHA:1495,27,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0001302,Pachygyria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0001738,Exocrine pancreatic insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012491,Orphanet,452,ORPHA:452,21,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0000391,Thickened helices,Occasional (29-5%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0001716,Wolff-Parkinson-White syndrome,Frequent (79-30%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0010059,Broad hallux phalanx,Occasional (29-5%),TAS,,,,[PMID:18812404],y,y +GARD:0012492,Orphanet,261295,ORPHA:261295,23,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,[PMID:18812404],y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000539,Abnormality of refraction,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000598,Abnormality of the ear,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0000954,Single transverse palmar crease,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0001212,Prominent fingertip pads,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0001581,Recurrent skin infections,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0002236,Frontal upsweep of hair,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0002474,Expressive language delay,Very frequent (99-80%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0005272,Prominent nasolabial fold,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0007301,Oromotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0008589,Hypoplastic helices,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0008762,Repetitive compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0009088,Speech articulation difficulties,Very frequent (99-80%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0011823,Chin with horizontal crease,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0012393,Allergy,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0025502,Overweight,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0040303,Decreased serum iron,Occasional (29-5%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012501,Orphanet,391372,ORPHA:391372,60,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:26647308, PMID:28735298, PMID:29090079]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0000027,Azoospermia,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0000248,Brachycephaly,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0000508,Ptosis,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0000570,Abnormal saccadic eye movements,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0000605,Supranuclear gaze palsy,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0000657,Oculomotor apraxia,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0000767,Pectus excavatum,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0000823,Delayed puberty,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0000974,Hyperextensible skin,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001058,Poor wound healing,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001081,Cholelithiasis,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001085,Papilledema,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001258,Spastic paraplegia,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001270,Motor delay,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001276,Hypertonia,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001395,Hepatic fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001743,Abnormality of the spleen,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0002040,Esophageal varix,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0002070,Limb ataxia,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0002092,Pulmonary arterial hypertension,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0002123,Generalized myoclonic seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0002136,Broad-based gait,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0002315,Headache,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0002592,Gastric ulcer,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0002619,Varicose veins,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0003470,Paralysis,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0004326,Cachexia,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0004380,Aortic valve calcification,Frequent (79-30%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0004382,Mitral valve calcification,Frequent (79-30%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0004406,"Spontaneous, recurrent epistaxis",Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0004963,Calcification of the aorta,Frequent (79-30%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0005619,Thoracolumbar kyphosis,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0006530,Abnormal pulmonary interstitial morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0006689,Bacterial endocarditis,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0010543,Opsoclonus,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0011968,Feeding difficulties,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0012389,Appendicular hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0025160,Abnormal temper tantrums,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0025190,Bilateral tonic-clonic seizure with generalized onset,Occasional (29-5%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0025404,Abnormal visual fixation,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0031364,Ecchymosis,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012504,Orphanet,2072,ORPHA:2072,63,HP:0200042,Skin ulcer,Very rare (<4-1%),TAS,,,,"[PMID:20301446, PMID:31130326]",y,y +GARD:0012505,Orphanet,139406,ORPHA:139406,10,HP:0000496,Abnormality of eye movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012505,Orphanet,139406,ORPHA:139406,10,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012505,Orphanet,139406,ORPHA:139406,10,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012505,Orphanet,139406,ORPHA:139406,10,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012505,Orphanet,139406,ORPHA:139406,10,HP:0001522,Death in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012505,Orphanet,139406,ORPHA:139406,10,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012505,Orphanet,139406,ORPHA:139406,10,HP:0002069,Bilateral tonic-clonic seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012505,Orphanet,139406,ORPHA:139406,10,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012505,Orphanet,139406,ORPHA:139406,10,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012505,Orphanet,139406,ORPHA:139406,10,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0000716,Depression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0001181,Adducted thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0002410,Aqueductal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0002463,Language impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0012524,Orphanet,275543,ORPHA:275543,16,HP:0004374,Hemiplegia/hemiparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012525,Orphanet,306617,ORPHA:306617,9,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,"[PMID:20301657, PMID:22266886, PMID:23897027, PMID:26008818]",y,y +GARD:0012525,Orphanet,306617,ORPHA:306617,9,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301657, PMID:22266886, PMID:23897027, PMID:26008818]",y,y +GARD:0012525,Orphanet,306617,ORPHA:306617,9,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20301657, PMID:22266886, PMID:23897027, PMID:26008818]",y,y +GARD:0012525,Orphanet,306617,ORPHA:306617,9,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:20301657, PMID:22266886, PMID:23897027, PMID:26008818]",y,y +GARD:0012525,Orphanet,306617,ORPHA:306617,9,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:20301657, PMID:22266886, PMID:23897027, PMID:26008818]",y,y +GARD:0012525,Orphanet,306617,ORPHA:306617,9,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:20301657, PMID:22266886, PMID:23897027, PMID:26008818]",y,y +GARD:0012525,Orphanet,306617,ORPHA:306617,9,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:20301657, PMID:22266886, PMID:23897027, PMID:26008818]",y,y +GARD:0012525,Orphanet,306617,ORPHA:306617,9,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301657, PMID:22266886, PMID:23897027, PMID:26008818]",y,y +GARD:0012525,Orphanet,306617,ORPHA:306617,9,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20301657, PMID:22266886, PMID:23897027, PMID:26008818]",y,y +GARD:0012526,Orphanet,1497,ORPHA:1497,7,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0012526,Orphanet,1497,ORPHA:1497,7,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012526,Orphanet,1497,ORPHA:1497,7,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012526,Orphanet,1497,ORPHA:1497,7,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0012526,Orphanet,1497,ORPHA:1497,7,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012526,Orphanet,1497,ORPHA:1497,7,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0012526,Orphanet,1497,ORPHA:1497,7,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0012528,Orphanet,34516,ORPHA:34516,12,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:26847086],y,y +GARD:0012528,Orphanet,34516,ORPHA:34516,12,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,[PMID:26847086],y,y +GARD:0012528,Orphanet,34516,ORPHA:34516,12,HP:0003324,Generalized muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:26847086],y,y +GARD:0012528,Orphanet,34516,ORPHA:34516,12,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,[PMID:26847086],y,y +GARD:0012528,Orphanet,34516,ORPHA:34516,12,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,[PMID:26847086],y,y +GARD:0012528,Orphanet,34516,ORPHA:34516,12,HP:0003715,Myofibrillar myopathy,Occasional (29-5%),TAS,,,,[PMID:26847086],y,y +GARD:0012528,Orphanet,34516,ORPHA:34516,12,HP:0003805,Rimmed vacuoles,Occasional (29-5%),TAS,,,,[PMID:26847086],y,y +GARD:0012528,Orphanet,34516,ORPHA:34516,12,HP:0004303,Abnormal muscle fiber morphology,Very rare (<4-1%),TAS,,,,[PMID:26847086],y,y +GARD:0012528,Orphanet,34516,ORPHA:34516,12,HP:0006957,Loss of ability to walk,Occasional (29-5%),TAS,,,,[PMID:26847086],y,y +GARD:0012528,Orphanet,34516,ORPHA:34516,12,HP:0010548,Percussion myotonia,Very rare (<4-1%),TAS,,,,[PMID:26847086],y,y +GARD:0012528,Orphanet,34516,ORPHA:34516,12,HP:0012548,Fatty replacement of skeletal muscle,Occasional (29-5%),TAS,,,,[PMID:26847086],y,y +GARD:0012528,Orphanet,34516,ORPHA:34516,12,HP:0030951,Skeletal muscle fibrosis,Occasional (29-5%),TAS,,,,[PMID:26847086],y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0003547,Shoulder girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0003551,Difficulty climbing stairs,Occasional (29-5%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0003560,Muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0003701,Proximal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0003749,Pelvic girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0005109,Abnormality of the Achilles tendon,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0008981,Calf muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0009046,Difficulty running,Occasional (29-5%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0030092,Reduced muscle fiber merosin,Occasional (29-5%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012533,Orphanet,34515,ORPHA:34515,17,HP:0030099,Reduced muscle fiber alpha dystroglycan,Very frequent (99-80%),TAS,,,,"[PMID:11592034, PMID:12666124, PMID:14523375, PMID:15505776]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0002938,Lumbar hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0003306,Spinal rigidity,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0003325,Limb-girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0003388,Easy fatigability,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0003391,Gowers sign,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0003551,Difficulty climbing stairs,Very frequent (99-80%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0003560,Muscular dystrophy,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0003687,Centrally nucleated skeletal muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0003700,Generalized amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0003733,Thigh hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0003803,Type 1 muscle fiber predominance,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0008981,Calf muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0010794,Impaired visuospatial constructive cognition,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012535,Orphanet,86812,ORPHA:86812,32,HP:0031108,Triceps weakness,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:20065251, PMID:22549409]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0001239,Wrist flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0001430,Abnormality of the calf musculature,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0002816,Genu recurvatum,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0002913,Myoglobinuria,Occasional (29-5%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0003089,Hamstring contractures,Occasional (29-5%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0003445,EMG: neuropathic changes,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0003482,EMG: axonal abnormality,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0003555,Muscle fiber splitting,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0003691,Scapular winging,Occasional (29-5%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0003730,EMG: myotonic runs,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0003738,Exercise-induced myalgia,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0004303,Abnormal muscle fiber morphology,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0006466,Ankle flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0006785,Limb-girdle muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0007210,Lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0008981,Calf muscle hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0008988,Pelvic girdle muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0008994,Proximal muscle weakness in lower limbs,Very frequent (99-80%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0008997,Proximal muscle weakness in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0009050,Quadriceps muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0009129,Upper limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0012548,Fatty replacement of skeletal muscle,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0012785,Flexion contracture of finger,Occasional (29-5%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0031237,Internally nucleated skeletal muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0100295,Muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012536,Orphanet,206549,ORPHA:206549,35,HP:0100297,Increased endomysial connective tissue,Frequent (79-30%),TAS,,,,"[PMID:17008331, PMID:23193613]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0003691,Scapular winging,Occasional (29-5%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0003697,Scapuloperoneal amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0006785,Limb-girdle muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0006913,Frontal cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0007126,Proximal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0008981,Calf muscle hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0011712,Right bundle branch block,Occasional (29-5%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0025169,Left ventricular systolic dysfunction,Occasional (29-5%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0030099,Reduced muscle fiber alpha dystroglycan,Very frequent (99-80%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0030197,Fatigable weakness of skeletal muscles,Frequent (79-30%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012539,Orphanet,206559,ORPHA:206559,20,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:17878207, PMID:17923109, PMID:20301582, PMID:29175898]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0003391,Gowers sign,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0003707,Calf muscle pseudohypertrophy,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0006466,Ankle flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0006785,Limb-girdle muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0008981,Calf muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012541,Orphanet,280333,ORPHA:280333,15,HP:0030099,Reduced muscle fiber alpha dystroglycan,Very frequent (99-80%),TAS,,,,"[PMID:14678799, PMID:22677325, PMID:25503980]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0000951,Abnormality of the skin,Excluded (0%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0001488,Bilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0001611,Nasal speech,Occasional (29-5%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0001626,Abnormality of the cardiovascular system,Very rare (<4-1%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0001771,Achilles tendon contracture,Occasional (29-5%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0002086,Abnormality of the respiratory system,Very rare (<4-1%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0002206,Pulmonary fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0002875,Exertional dyspnea,Very rare (<4-1%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0003324,Generalized muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0003325,Limb-girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0003391,Gowers sign,Frequent (79-30%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0003749,Pelvic girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0004631,Decreased cervical spine flexion due to contractures of posterior cervical muscles,Very rare (<4-1%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0006957,Loss of ability to walk,Frequent (79-30%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0008981,Calf muscle hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0009073,Progressive proximal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0011712,Right bundle branch block,Very rare (<4-1%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0011950,Bronchiolitis,Very rare (<4-1%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0025435,Increased circulating lactate dehydrogenase concentration,Occasional (29-5%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0030208,Anti-acetylcholine receptor antibody positivity,Excluded (0%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0040266,Proximal upper limb muscle hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0040287,Axial muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0100750,Atelectasis,Very rare (<4-1%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012542,Orphanet,254361,ORPHA:254361,35,HP:0430025,Bilateral facial palsy,Occasional (29-5%),TAS,,,,"[PMID:21109228, PMID:22864774, PMID:25556389, PMID:28447722, PMID:28824526]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0002078,Truncal ataxia,Occasional (29-5%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0002091,Restrictive ventilatory defect,Excluded (0%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0003560,Muscular dystrophy,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0005133,Right ventricular dilatation,Excluded (0%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0006785,Limb-girdle muscular dystrophy,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0006889,"Intellectual disability, borderline",Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0012762,Cerebral white matter atrophy,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0025313,Exophoria,Occasional (29-5%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0040081,Abnormal circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012543,Orphanet,369840,ORPHA:369840,27,HP:0100295,Muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:23830518, PMID:26322222, PMID:27707803, PMID:27862579]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0000467,Neck muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0003327,Axial muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0003388,Easy fatigability,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0003403,EMG: decremental response of compound muscle action potential to repetitive nerve stimulation,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0003546,Exercise intolerance,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0006698,Dilatation of the ventricular cavity,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0007340,Lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0008959,Distal upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0008997,Proximal muscle weakness in upper limbs,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0030192,Fatigable weakness of bulbar muscles,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012544,Orphanet,363623,ORPHA:363623,25,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:23768512, PMID:26133662]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0000388,Otitis media,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0000491,Keratitis,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0000872,Hashimoto thyroiditis,Very rare (<4-1%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0001047,Atopic dermatitis,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0001370,Rheumatoid arthritis,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0001904,Neutropenia in presence of anti-neutropil antibodies,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0001973,Autoimmune thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0002110,Bronchiectasis,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0002720,Decreased circulating IgA level,Excluded (0%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0002837,Recurrent bronchitis,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0002840,Lymphadenitis,Very rare (<4-1%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0002850,Decreased circulating total IgM,Very frequent (99-80%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0002890,Thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0003193,Allergic rhinitis,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0004315,Decreased circulating IgG level,Excluded (0%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0004798,Recurrent infection of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0005353,Recurrent herpes,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0005415,Decreased proportion of CD8-positive T cells,Very rare (<4-1%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0006532,Recurrent pneumonia,Frequent (79-30%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0006775,Multiple myeloma,Very rare (<4-1%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0007499,Recurrent staphylococcal infections,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0009098,Chronic oral candidiasis,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0011108,Recurrent sinusitis,Frequent (79-30%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0011109,Chronic sinusitis,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0011370,Recurrent cutaneous fungal infections,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0012126,Stomach cancer,Very rare (<4-1%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0012203,Onychomycosis,Very rare (<4-1%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0012204,Recurrent vulvovaginal candidiasis,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0012393,Allergy,Frequent (79-30%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0012432,Chronic fatigue,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0012539,Non-Hodgkin lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0025439,Pharyngitis,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0030380,Decreased proportion of transitional B cells,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0030757,Tooth abscess,Very rare (<4-1%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0030880,Raynaud phenomenon,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0031047,Paraproteinemia,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0031292,Cutaneous abscess,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0031691,Severe viral infection,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0032140,Decreased specific antibody response to vaccination,Frequent (79-30%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0032169,Severe infection,Very frequent (99-80%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0032170,Severe varicella zoster infection,Very rare (<4-1%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0032218,Decreased proportion of CD4-positive T cells,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0032261,Nontuberculous mycobacterial pulmonary infection,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0032262,Pulmonary tuberculosis,Very rare (<4-1%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0032275,Recurrent shingles,Very rare (<4-1%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0033430,Non-infectious meningitis,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0045080,Decreased proportion of CD3-positive T cells,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0100280,Crohn's disease,Very rare (<4-1%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0100537,Fasciitis,Very rare (<4-1%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012547,Orphanet,331235,ORPHA:331235,64,HP:0200043,Verrucae,Occasional (29-5%),TAS,,,,"[PMID:28984901, PMID:31970029, PMID:33706406]",y,y +GARD:0012551,Orphanet,238722,ORPHA:238722,14,HP:0000044,Hypogonadotropic hypogonadism,Very rare (<4-1%),TAS,,,,"[PMID:14639670, PMID:19127048, PMID:20431009, PMID:21242494, PMID:25098561, PMID:25813273, PMID:28250454]",y,y +GARD:0012551,Orphanet,238722,ORPHA:238722,14,HP:0001256,"Intellectual disability, mild",Very rare (<4-1%),TAS,,,,"[PMID:14639670, PMID:19127048, PMID:20431009, PMID:21242494, PMID:25098561, PMID:25813273, PMID:28250454]",y,y +GARD:0012551,Orphanet,238722,ORPHA:238722,14,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:14639670, PMID:19127048, PMID:20431009, PMID:21242494, PMID:25098561, PMID:25813273, PMID:28250454]",y,y +GARD:0012551,Orphanet,238722,ORPHA:238722,14,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:14639670, PMID:19127048, PMID:20431009, PMID:21242494, PMID:25098561, PMID:25813273, PMID:28250454]",y,y +GARD:0012551,Orphanet,238722,ORPHA:238722,14,HP:0001335,Bimanual synkinesia,Frequent (79-30%),TAS,,,,"[PMID:14639670, PMID:19127048, PMID:20431009, PMID:21242494, PMID:25098561, PMID:25813273, PMID:28250454]",y,y +GARD:0012551,Orphanet,238722,ORPHA:238722,14,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:14639670, PMID:19127048, PMID:20431009, PMID:21242494, PMID:25098561, PMID:25813273, PMID:28250454]",y,y +GARD:0012551,Orphanet,238722,ORPHA:238722,14,HP:0002492,Morphological abnormality of the corticospinal tract,Frequent (79-30%),TAS,,,,"[PMID:14639670, PMID:19127048, PMID:20431009, PMID:21242494, PMID:25098561, PMID:25813273, PMID:28250454]",y,y +GARD:0012551,Orphanet,238722,ORPHA:238722,14,HP:0002949,Fused cervical vertebrae,Very rare (<4-1%),TAS,,,,"[PMID:14639670, PMID:19127048, PMID:20431009, PMID:21242494, PMID:25098561, PMID:25813273, PMID:28250454]",y,y +GARD:0012551,Orphanet,238722,ORPHA:238722,14,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:14639670, PMID:19127048, PMID:20431009, PMID:21242494, PMID:25098561, PMID:25813273, PMID:28250454]",y,y +GARD:0012551,Orphanet,238722,ORPHA:238722,14,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:14639670, PMID:19127048, PMID:20431009, PMID:21242494, PMID:25098561, PMID:25813273, PMID:28250454]",y,y +GARD:0012551,Orphanet,238722,ORPHA:238722,14,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,"[PMID:14639670, PMID:19127048, PMID:20431009, PMID:21242494, PMID:25098561, PMID:25813273, PMID:28250454]",y,y +GARD:0012551,Orphanet,238722,ORPHA:238722,14,HP:0025101,Dysgenesis of the hippocampus,Occasional (29-5%),TAS,,,,"[PMID:14639670, PMID:19127048, PMID:20431009, PMID:21242494, PMID:25098561, PMID:25813273, PMID:28250454]",y,y +GARD:0012551,Orphanet,238722,ORPHA:238722,14,HP:0100021,Cerebral palsy,Very rare (<4-1%),TAS,,,,"[PMID:14639670, PMID:19127048, PMID:20431009, PMID:21242494, PMID:25098561, PMID:25813273, PMID:28250454]",y,y +GARD:0012551,Orphanet,238722,ORPHA:238722,14,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:14639670, PMID:19127048, PMID:20431009, PMID:21242494, PMID:25098561, PMID:25813273, PMID:28250454]",y,y +GARD:0012556,Orphanet,631,ORPHA:631,3,HP:0000830,Anterior hypopituitarism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012556,Orphanet,631,ORPHA:631,3,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012556,Orphanet,631,ORPHA:631,3,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000488,Retinopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000716,Depression,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000889,Abnormal clavicle morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0000940,Abnormal diaphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0001638,Cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0001654,Abnormal heart valve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0001706,Endocardial fibroelastosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0002028,Chronic diarrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0003275,Narrow pelvis bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0003416,Spinal canal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0003468,Abnormal vertebral morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0008155,Mucopolysacchariduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0012384,Rhinitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0040129,Abnormal nerve conduction velocity,Occasional (29-5%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0100021,Cerebral palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0100729,Large face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0100765,Abnormality of the tonsils,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012559,Orphanet,93473,ORPHA:93473,59,HP:0100790,Hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0001654,Abnormal heart valve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0003416,Spinal canal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0003468,Abnormal vertebral morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0012384,Rhinitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0040129,Abnormal nerve conduction velocity,Frequent (79-30%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0100765,Abnormality of the tonsils,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012560,Orphanet,93476,ORPHA:93476,18,HP:0100790,Hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0001659,Aortic regurgitation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0008155,Mucopolysacchariduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0012384,Rhinitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0040129,Abnormal nerve conduction velocity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012561,Orphanet,93474,ORPHA:93474,18,HP:0100021,Cerebral palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0000683,Grayish enamel,Frequent (79-30%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0001654,Abnormal heart valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0002673,Coxa valga,Frequent (79-30%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0003416,Spinal canal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0008155,Mucopolysacchariduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0012562,Orphanet,582,ORPHA:582,34,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0000338,Hypomimic face,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0000571,Hypometric saccades,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0000605,Supranuclear gaze palsy,Occasional (29-5%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0000658,Eyelid apraxia,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0000746,Delusions,Occasional (29-5%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0000751,Personality changes,Occasional (29-5%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0002145,Frontotemporal dementia,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0002185,Neurofibrillary tangles,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0002548,Parkinsonism with favorable response to dopaminergic medication,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0004373,Focal dystonia,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0006892,Frontotemporal cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0007058,Generalized cerebral atrophy/hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0007153,Progressive extrapyramidal movement disorder,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0010522,Dyslexia,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0011999,Paranoia,Occasional (29-5%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0012675,Iron accumulation in brain,Occasional (29-5%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0025262,Stiff hip,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012568,Orphanet,199351,ORPHA:199351,32,HP:0040081,Abnormal circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:20619503, PMID:20938027, PMID:21700586, PMID:22030388, PMID:26196026]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0000570,Abnormal saccadic eye movements,Occasional (29-5%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0002063,Rigidity,Very frequent (99-80%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0002093,Respiratory insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0002172,Postural instability,Very frequent (99-80%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0002313,Spastic paraparesis,Frequent (79-30%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0002362,Shuffling gait,Occasional (29-5%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0002378,Hand tremor,Very frequent (99-80%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0002453,Abnormal globus pallidus morphology,Frequent (79-30%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0002607,Bowel incontinence,Frequent (79-30%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0006801,Hyperactive deep tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0007002,Motor axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012569,Orphanet,289560,ORPHA:289560,26,HP:0045007,Abnormal substantia nigra morphology,Frequent (79-30%),TAS,,,,"[PMID:23269600, PMID:23278385, PMID:24575447]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0000743,Frontal release signs,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0002313,Spastic paraparesis,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0002448,Progressive encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0012675,Iron accumulation in brain,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012570,Orphanet,329284,ORPHA:329284,22,HP:0012678,Iron accumulation in substantia nigra,Frequent (79-30%),TAS,,,,"[PMID:18981035, PMID:22892189, PMID:23212724]",y,y +GARD:0012571,Orphanet,397725,ORPHA:397725,13,HP:0000722,Obsessive-compulsive behavior,Very frequent (99-80%),TAS,,,,[PMID:23447832],y,y +GARD:0012571,Orphanet,397725,ORPHA:397725,13,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:23447832],y,y +GARD:0012571,Orphanet,397725,ORPHA:397725,13,HP:0001300,Parkinsonism,Very frequent (99-80%),TAS,,,,[PMID:23447832],y,y +GARD:0012571,Orphanet,397725,ORPHA:397725,13,HP:0002313,Spastic paraparesis,Very frequent (99-80%),TAS,,,,[PMID:23447832],y,y +GARD:0012571,Orphanet,397725,ORPHA:397725,13,HP:0002339,Abnormal caudate nucleus morphology,Very frequent (99-80%),TAS,,,,[PMID:23447832],y,y +GARD:0012571,Orphanet,397725,ORPHA:397725,13,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,[PMID:23447832],y,y +GARD:0012571,Orphanet,397725,ORPHA:397725,13,HP:0002453,Abnormal globus pallidus morphology,Very frequent (99-80%),TAS,,,,[PMID:23447832],y,y +GARD:0012571,Orphanet,397725,ORPHA:397725,13,HP:0002454,Eye of the tiger anomaly of globus pallidus,Very frequent (99-80%),TAS,,,,[PMID:23447832],y,y +GARD:0012571,Orphanet,397725,ORPHA:397725,13,HP:0003477,Peripheral axonal neuropathy,Very frequent (99-80%),TAS,,,,[PMID:23447832],y,y +GARD:0012571,Orphanet,397725,ORPHA:397725,13,HP:0010663,Abnormality of thalamus morphology,Very frequent (99-80%),TAS,,,,[PMID:23447832],y,y +GARD:0012571,Orphanet,397725,ORPHA:397725,13,HP:0010994,Abnormal corpus striatum morphology,Very frequent (99-80%),TAS,,,,[PMID:23447832],y,y +GARD:0012571,Orphanet,397725,ORPHA:397725,13,HP:0012048,Oromandibular dystonia,Very frequent (99-80%),TAS,,,,[PMID:23447832],y,y +GARD:0012571,Orphanet,397725,ORPHA:397725,13,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,[PMID:23447832],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0002421,Poor head control,Very frequent (99-80%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0003306,Spinal rigidity,Frequent (79-30%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0003327,Axial muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,[PMID:18551513],y,y +GARD:0012585,Orphanet,157973,ORPHA:157973,22,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:18551513],y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0002527,Falls,Very rare (<4-1%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0002792,Reduced vital capacity,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0003555,Muscle fiber splitting,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0003701,Proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0003722,Neck flexor weakness,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0003803,Type 1 muscle fiber predominance,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0003805,Rimmed vacuoles,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0008800,Limited hip movement,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0008963,Tibialis muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0008978,Necrotizing myopathy,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0008981,Calf muscle hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0012764,Orthopnea,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0031237,Internally nucleated skeletal muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012591,Orphanet,178464,ORPHA:178464,24,HP:0100293,Muscle fiber hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:22577215, PMID:24575448]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0000183,Difficulty in tongue movements,Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0000301,Abnormality of facial musculature,Very frequent (99-80%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0000408,Progressive sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0000590,Progressive external ophthalmoplegia,Very frequent (99-80%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0000597,Ophthalmoparesis,Very frequent (99-80%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0001604,Vocal cord paresis,Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0002058,Myopathic facies,Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0002100,Recurrent aspiration pneumonia,Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0006957,Loss of ability to walk,Occasional (29-5%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0007149,Distal upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0007838,Progressive ptosis,Very frequent (99-80%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0008376,"Nasal, dysarthic speech",Very frequent (99-80%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0008756,Bowing of the vocal cords,Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0008944,Distal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0008959,Distal upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0008963,Tibialis muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0008997,Proximal muscle weakness in upper limbs,Very rare (<4-1%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0009027,Foot dorsiflexor weakness,Occasional (29-5%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0009063,Progressive distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0009073,Progressive proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0010550,Paraplegia,Very rare (<4-1%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0030192,Fatigable weakness of bulbar muscles,Occasional (29-5%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0030319,Weakness of facial musculature,Very frequent (99-80%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0031162,Impaired oropharyngeal swallow response,Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0200136,Oral-pharyngeal dysphagia,Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:0430015,Abnormal morphology of musculature of pharynx,Frequent (79-30%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:3000005,Abnormality of masseter muscle,Occasional (29-5%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012592,Orphanet,98897,ORPHA:98897,36,HP:3000010,Abnormality of orbicularis oris muscle,Very rare (<4-1%),TAS,,,,"[PMID:15377709, PMID:164310, PMID:21242490, PMID:26039504, PMID:836191, PMID:9608566]",y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0000956,Acanthosis nigricans,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0000991,Xanthomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0002635,Type IV atherosclerotic lesion,Frequent (79-30%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0003077,Hyperlipidemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0003712,Skeletal muscle hypertrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0005978,Type II diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0009125,Lipodystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012596,Orphanet,90970,ORPHA:90970,21,HP:0400008,Menometrorrhagia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012598,Orphanet,79084,ORPHA:79084,12,HP:0000147,Polycystic ovaries,Frequent (79-30%),TAS,,,,[PMID:12766116],y,y +GARD:0012598,Orphanet,79084,ORPHA:79084,12,HP:0000819,Diabetes mellitus,Very frequent (99-80%),TAS,,,,[PMID:12766116],y,y +GARD:0012598,Orphanet,79084,ORPHA:79084,12,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,[PMID:12766116],y,y +GARD:0012598,Orphanet,79084,ORPHA:79084,12,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,[PMID:12766116],y,y +GARD:0012598,Orphanet,79084,ORPHA:79084,12,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,[PMID:12766116],y,y +GARD:0012598,Orphanet,79084,ORPHA:79084,12,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,[PMID:12766116],y,y +GARD:0012598,Orphanet,79084,ORPHA:79084,12,HP:0000991,Xanthomatosis,Frequent (79-30%),TAS,,,,[PMID:12766116],y,y +GARD:0012598,Orphanet,79084,ORPHA:79084,12,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,[PMID:12766116],y,y +GARD:0012598,Orphanet,79084,ORPHA:79084,12,HP:0001677,Coronary artery atherosclerosis,Occasional (29-5%),TAS,,,,[PMID:12766116],y,y +GARD:0012598,Orphanet,79084,ORPHA:79084,12,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,[PMID:12766116],y,y +GARD:0012598,Orphanet,79084,ORPHA:79084,12,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,[PMID:12766116],y,y +GARD:0012598,Orphanet,79084,ORPHA:79084,12,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,[PMID:12766116],y,y +GARD:0012599,Orphanet,79085,ORPHA:79085,13,HP:0000147,Polycystic ovaries,Frequent (79-30%),TAS,,,,"[PMID:15166380, PMID:17327441, PMID:17554339, PMID:21865368, PMID:22748602]",y,y +GARD:0012599,Orphanet,79085,ORPHA:79085,13,HP:0000831,Insulin-resistant diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:15166380, PMID:17327441, PMID:17554339, PMID:21865368, PMID:22748602]",y,y +GARD:0012599,Orphanet,79085,ORPHA:79085,13,HP:0000855,Insulin resistance,Obligate (100%),TAS,,,,"[PMID:15166380, PMID:17327441, PMID:17554339, PMID:21865368, PMID:22748602]",y,y +GARD:0012599,Orphanet,79085,ORPHA:79085,13,HP:0000876,Oligomenorrhea,Frequent (79-30%),TAS,,,,"[PMID:15166380, PMID:17327441, PMID:17554339, PMID:21865368, PMID:22748602]",y,y +GARD:0012599,Orphanet,79085,ORPHA:79085,13,HP:0000956,Acanthosis nigricans,Very frequent (99-80%),TAS,,,,"[PMID:15166380, PMID:17327441, PMID:17554339, PMID:21865368, PMID:22748602]",y,y +GARD:0012599,Orphanet,79085,ORPHA:79085,13,HP:0001397,Hepatic steatosis,Very frequent (99-80%),TAS,,,,"[PMID:15166380, PMID:17327441, PMID:17554339, PMID:21865368, PMID:22748602]",y,y +GARD:0012599,Orphanet,79085,ORPHA:79085,13,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:15166380, PMID:17327441, PMID:17554339, PMID:21865368, PMID:22748602]",y,y +GARD:0012599,Orphanet,79085,ORPHA:79085,13,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:15166380, PMID:17327441, PMID:17554339, PMID:21865368, PMID:22748602]",y,y +GARD:0012599,Orphanet,79085,ORPHA:79085,13,HP:0003077,Hyperlipidemia,Very frequent (99-80%),TAS,,,,"[PMID:15166380, PMID:17327441, PMID:17554339, PMID:21865368, PMID:22748602]",y,y +GARD:0012599,Orphanet,79085,ORPHA:79085,13,HP:0003292,Decreased serum leptin,Very frequent (99-80%),TAS,,,,"[PMID:15166380, PMID:17327441, PMID:17554339, PMID:21865368, PMID:22748602]",y,y +GARD:0012599,Orphanet,79085,ORPHA:79085,13,HP:0008993,Increased intraabdominal fat,Very frequent (99-80%),TAS,,,,"[PMID:15166380, PMID:17327441, PMID:17554339, PMID:21865368, PMID:22748602]",y,y +GARD:0012599,Orphanet,79085,ORPHA:79085,13,HP:0009125,Lipodystrophy,Obligate (100%),TAS,,,,"[PMID:15166380, PMID:17327441, PMID:17554339, PMID:21865368, PMID:22748602]",y,y +GARD:0012599,Orphanet,79085,ORPHA:79085,13,HP:0030685,Decreased adiponectin level,Very frequent (99-80%),TAS,,,,"[PMID:15166380, PMID:17327441, PMID:17554339, PMID:21865368, PMID:22748602]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0000292,Loss of facial adipose tissue,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0000786,Primary amenorrhea,Very rare (<4-1%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0000819,Diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0000822,Hypertension,Obligate (100%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0000831,Insulin-resistant diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0000855,Insulin resistance,Obligate (100%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0000869,Secondary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0000876,Oligomenorrhea,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0000991,Xanthomatosis,Very frequent (99-80%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0001394,Cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0001677,Coronary artery atherosclerosis,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0002149,Hyperuricemia,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0002621,Atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0003635,Loss of subcutaneous adipose tissue in limbs,Very frequent (99-80%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0003707,Calf muscle pseudohypertrophy,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0003712,Skeletal muscle hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0007457,Prominent veins on trunk,Very rare (<4-1%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0009042,Marked muscular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0012084,Abnormality of skeletal muscle fiber size,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0100578,Lipoatrophy,Obligate (100%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0100601,Eclampsia,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012600,Orphanet,79083,ORPHA:79083,37,HP:0100607,Dysmenorrhea,Occasional (29-5%),TAS,,,,"[PMID:10622252, PMID:11788685, PMID:12453919, PMID:12663460, PMID:27710244]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0000147,Polycystic ovaries,Frequent (79-30%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0000789,Infertility,Very frequent (99-80%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0000822,Hypertension,Obligate (100%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0000842,Hyperinsulinemia,Obligate (100%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0000876,Oligomenorrhea,Frequent (79-30%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0000877,Insulin-resistant diabetes mellitus at puberty,Obligate (100%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0000956,Acanthosis nigricans,Obligate (100%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0001395,Hepatic fibrosis,Frequent (79-30%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0001397,Hepatic steatosis,Obligate (100%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0002155,Hypertriglyceridemia,Obligate (100%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0003117,Abnormal circulating hormone concentration,Frequent (79-30%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0003635,Loss of subcutaneous adipose tissue in limbs,Very frequent (99-80%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0003758,Reduced subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0008981,Calf muscle hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0009017,Loss of gluteal subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012601,Orphanet,280356,ORPHA:280356,16,HP:0100578,Lipoatrophy,Obligate (100%),TAS,,,,"[PMID:12927424, PMID:17908770, PMID:18256390, PMID:18256394, PMID:21345103, PMID:22685055, PMID:4552697, PMID:7068697]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0000831,Insulin-resistant diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0001735,Acute pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0002155,Hypertriglyceridemia,Occasional (29-5%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0002665,Lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0003119,Abnormal circulating lipid concentration,Frequent (79-30%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0003707,Calf muscle pseudohypertrophy,Frequent (79-30%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0005328,Progeroid facial appearance,Frequent (79-30%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0005339,Abnormality of complement system,Occasional (29-5%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0005616,Accelerated skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0007440,Generalized hyperpigmentation,Occasional (29-5%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0009064,Generalized lipodystrophy,Obligate (100%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0009592,Astrocytoma,Very rare (<4-1%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0011025,Abnormal cardiovascular system physiology,Frequent (79-30%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0012064,Unicameral bone cyst,Very rare (<4-1%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012603,Orphanet,79086,ORPHA:79086,28,HP:0012490,Panniculitis,Occasional (29-5%),TAS,,,,"[PMID:11078466, PMID:17097389, PMID:19924491, PMID:20551664, PMID:20616664, PMID:22748602, PMID:25864863, PMID:26252356]",y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0001595,Abnormal hair morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0002216,Premature graying of hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0002621,Atherosclerosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0002814,Abnormality of the lower limb,Frequent (79-30%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0002817,Abnormality of the upper limb,Frequent (79-30%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0003119,Abnormal circulating lipid concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0003758,Reduced subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0009125,Lipodystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0010980,Hyperlipoproteinemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0100651,Type I diabetes mellitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0012604,Orphanet,1979,ORPHA:1979,28,HP:0100679,Lack of skin elasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0000592,Blue sclerae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0000944,Abnormality of the metaphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0003071,Flattened epiphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0003370,Flat capital femoral epiphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0003393,Thenar muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0006429,Broad femoral neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0008848,Moderately short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0010489,Absent palmar crease,Frequent (79-30%),TAS,,,,,y,y +GARD:0012610,Orphanet,157965,ORPHA:157965,20,HP:0100864,Short femoral neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001027,"Soft, doughy skin",Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001058,Poor wound healing,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001075,Atrophic scars,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001519,Disproportionate tall stature,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001653,Mitral regurgitation,Very frequent (99-80%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001654,Abnormal heart valve morphology,Very frequent (99-80%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001659,Aortic regurgitation,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001822,Hallux valgus,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001848,Calcaneovalgus deformity,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0002616,Aortic root aneurysm,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0002816,Genu recurvatum,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0002944,Thoracolumbar scoliosis,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0005180,Tricuspid regurgitation,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0006109,Absent phalangeal crease,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0006201,Hypermobility of distal interphalangeal joints,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0010444,Pulmonary insufficiency,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0012717,Severe conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0031610,Recurrent shoulder dislocation,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0100550,Tendon rupture,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0100807,Long fingers,Frequent (79-30%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012613,Orphanet,230851,ORPHA:230851,48,HP:0500041,Myopic astigmatism,Occasional (29-5%),TAS,,,,"[PMID:15077201, PMID:30821104]",y,y +GARD:0012623,Orphanet,28,ORPHA:28,13,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0012623,Orphanet,28,ORPHA:28,13,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0012623,Orphanet,28,ORPHA:28,13,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012623,Orphanet,28,ORPHA:28,13,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012623,Orphanet,28,ORPHA:28,13,HP:0001259,Coma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012623,Orphanet,28,ORPHA:28,13,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0012623,Orphanet,28,ORPHA:28,13,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012623,Orphanet,28,ORPHA:28,13,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012623,Orphanet,28,ORPHA:28,13,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012623,Orphanet,28,ORPHA:28,13,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012623,Orphanet,28,ORPHA:28,13,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012623,Orphanet,28,ORPHA:28,13,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012623,Orphanet,28,ORPHA:28,13,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0001161,Hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0002612,Congenital hepatic fibrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0009896,Abnormal antitragus morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0012635,Orphanet,2377,ORPHA:2377,24,HP:0100627,Displacement of the urethral meatus,Occasional (29-5%),TAS,,,,,y,y +GARD:0012638,Orphanet,183713,ORPHA:183713,3,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0012638,Orphanet,183713,ORPHA:183713,3,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012638,Orphanet,183713,ORPHA:183713,3,HP:0005406,Recurrent bacterial skin infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000349,Widow's peak,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000625,Eyelid coloboma,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0000653,Sparse eyelashes,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0002006,Facial cleft,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0004423,Cranium bifidum occultum,Occasional (29-5%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0005258,Pectoral muscle hypoplasia/aplasia,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0005466,Hypoplasia of the frontal bone,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0006931,Pericallosal lipoma,Occasional (29-5%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0009119,Aplasia/Hypoplasia of the frontal sinuses,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0011803,Bifid nose,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0040019,Finger clinodactyly,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012640,Orphanet,306542,ORPHA:306542,29,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,[PMID:20451171],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000289,Broad philtrum,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0000698,Conical tooth,Frequent (79-30%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0001362,Calvarial skull defect,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0002084,Encephalocele,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0002335,Agenesis of cerebellar vermis,Frequent (79-30%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0004440,Coronal craniosynostosis,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012641,Orphanet,228390,ORPHA:228390,30,HP:0011803,Bifid nose,Very frequent (99-80%),TAS,,,,[PMID:19692347],y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0000349,Widow's peak,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0002084,Encephalocele,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0002738,Hypoplastic frontal sinuses,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0002938,Lumbar hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0004112,Midline nasal groove,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0004423,Cranium bifidum occultum,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0006931,Pericallosal lipoma,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0008591,Congenital conductive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0010297,Bifid tongue,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0011817,Basal encephalocele,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0025247,Dermoid cyst,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0040019,Finger clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0040075,Hypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012642,Orphanet,391474,ORPHA:391474,29,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,"[PMID:17955515, PMID:19409524, PMID:5444583, PMID:9689987]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0000223,Abnormality of taste sensation,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0000246,Sinusitis,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0000711,Restlessness,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0000751,Personality changes,Frequent (79-30%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0000834,Abnormality of the adrenal glands,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0001482,Subcutaneous nodule,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0001700,Myocardial necrosis,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002090,Pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002134,Abnormality of the basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002143,Abnormality of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002181,Cerebral edema,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002383,Infectious encephalitis,Frequent (79-30%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002418,Abnormal midbrain morphology,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002538,Abnormal cerebral cortex morphology,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002921,Abnormality of the cerebrospinal fluid,Frequent (79-30%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0004409,Hyposmia,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0006897,Abducens palsy,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0007011,Fourth cranial nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0007361,Abnormal pons morphology,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0011441,Abnormality of the medulla oblongata,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0011947,Respiratory tract infection,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0012246,Oculomotor nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0012286,Abnormal hypothalamus morphology,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0012747,Abnormal brainstem MRI signal intensity,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0012804,Corneal ulceration,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0020059,Increased red blood cell count,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0025258,Stiff neck,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0030953,Conjunctival hyperemia,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0031179,Nuchal rigidity,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0031731,Increased tear production,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0031910,Abnormal cranial nerve physiology,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0032162,Unusual skin infection,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0032252,Granuloma,Occasional (29-5%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0032620,Intrarenal abscess,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0040197,Encephalomalacia,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0100583,Corneal perforation,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0200026,Ocular pain,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0200034,Papule,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0200039,Pustule,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0200042,Skin ulcer,Very rare (<4-1%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0200149,CSF lymphocytic pleiocytosis,Frequent (79-30%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012650,Orphanet,68,ORPHA:68,68,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:23829906, PMID:28664704]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0000508,Ptosis,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0000514,Slow saccadic eye movements,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0000651,Diplopia,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001252,Hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001271,Polyneuropathy,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001272,Cerebellar atrophy,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001276,Hypertonia,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001344,Absent speech,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001350,Slurred speech,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0001371,Flexion contracture,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002059,Cerebral atrophy,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002078,Truncal ataxia,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002079,Hypoplasia of the corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002151,Increased serum lactate,Occasional (29-5%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002166,Impaired vibration sensation in the lower limbs,Occasional (29-5%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002191,Progressive spasticity,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002490,Increased CSF lactate,Occasional (29-5%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002497,Spastic ataxia,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0002505,Loss of ambulation,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0005340,Spastic/hyperactive bladder,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0006858,Impaired distal proprioception,Occasional (29-5%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0006978,Dysmyelinating leukodystrophy,Frequent (79-30%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0007668,Impaired pursuit initiation and maintenance,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0008969,Leg muscle stiffness,Occasional (29-5%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0009055,Generalized limb muscle atrophy,Very rare (<4-1%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0010794,Impaired visuospatial constructive cognition,Occasional (29-5%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012652,Orphanet,137898,ORPHA:137898,50,HP:0011397,Abnormality of the dorsal column of the spinal cord,Very frequent (99-80%),TAS,,,,"[PMID:15002045, PMID:15326244, PMID:16788019, PMID:19592391, PMID:20506600, PMID:21815884, PMID:24566671, PMID:28431594, PMID:30352563, PMID:30635318]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0000083,Renal insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0000790,Hematuria,Very rare (<4-1%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0001723,Restrictive cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0001873,Thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0002094,Dyspnea,Very rare (<4-1%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0002729,Follicular hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0005214,Intestinal obstruction,Very rare (<4-1%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0006000,Ureteral obstruction,Very rare (<4-1%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0008940,Generalized lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0011974,Myelofibrosis,Very rare (<4-1%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0012050,Anasarca,Very rare (<4-1%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0025066,Decreased mean corpuscular volume,Occasional (29-5%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0025142,Constitutional symptom,Frequent (79-30%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0030157,Flank pain,Occasional (29-5%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0030783,Increased circulating interleukin 6 concentration,Frequent (79-30%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0031500,Abdominal mass,Occasional (29-5%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012656,Orphanet,160,ORPHA:160,29,HP:0100721,Mediastinal lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:30598916, PMID:30680887, PMID:30746379]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000032,Abnormality of male external genitalia,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000055,Abnormality of female external genitalia,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000076,Vesicoureteral reflux,Very rare (<4-1%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000079,Abnormality of the urinary system,Very rare (<4-1%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000122,Unilateral renal agenesis,Very rare (<4-1%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000144,Decreased fertility,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000147,Polycystic ovaries,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000260,Wide anterior fontanel,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000262,Turricephaly,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000363,Abnormal earlobe morphology,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000402,Stenosis of the external auditory canal,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000452,Choanal stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000786,Primary amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000798,Oligospermia,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000811,Abnormal external genitalia,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000882,Hypoplastic scapulae,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0000927,Abnormality of skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001377,Limited elbow extension,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001440,Metatarsal synostosis,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001519,Disproportionate tall stature,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001545,Anteriorly placed anus,Very rare (<4-1%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001838,Rocker bottom foot,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0002019,Constipation,Very rare (<4-1%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0002020,Gastroesophageal reflux,Very rare (<4-1%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0002308,Chiari malformation,Very rare (<4-1%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0002967,Cubitus valgus,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0002974,Radioulnar synostosis,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0002980,Femoral bowing,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0003019,Abnormality of the wrist,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0003041,Humeroradial synostosis,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0003049,Ulnar deviation of the wrist,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0003070,Elbow ankylosis,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0003154,Increased circulating ACTH level,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0003275,Narrow pelvis bone,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0003826,Stillbirth,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0005892,Proximal tibial and fibular fusion,Very rare (<4-1%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0005913,Abnormality of metacarpal epiphyses,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0006118,Shortening of all distal phalanges of the fingers,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0006439,Radioulnar dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0007466,Midfrontal capillary hemangioma,Very rare (<4-1%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0008072,Maternal virilization in pregnancy,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0008163,Decreased circulating cortisol level,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0008214,Decreased serum estradiol,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0008221,Adrenal hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0008232,Elevated circulating follicle stimulating hormone level,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0008368,Tarsal synostosis,Very rare (<4-1%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0008675,Enlarged polycystic ovaries,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0009701,Metacarpal synostosis,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0009738,Abnormal antihelix morphology,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0010049,Short metacarpal,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0010862,Delayed fine motor development,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0010946,Dilatation of the renal pelvis,Very rare (<4-1%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0011302,Long palm,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0011403,Abnormal umbilical cord blood vessel morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0011911,Abnormality of metacarpophalangeal joint,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0011969,Elevated circulating luteinizing hormone level,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0025486,Fused labia majora,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0030349,Decreased circulating androgen concentration,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0031065,Abnormal ovarian morphology,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0031074,Abnormal response to ACTH stimulation test,Very frequent (99-80%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0031083,Abnormal response to human chorionic gonadotrophin stimulation test,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0031100,Decreased inhibin B level,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0031187,Abnormal circulating pregnenolone concentration,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0031213,Elevated circulating 17-hydroxyprogesterone,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0031215,Decreased circulating dehydroepiandrosterone-sulfate concentration,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0031216,Increased circulating progesterone,Frequent (79-30%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0032362,Increased circulating corticosterone level,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012664,Orphanet,95699,ORPHA:95699,108,HP:0040253,Increased size of the clitoris,Occasional (29-5%),TAS,,,,"[PMID:20301592, PMID:31888681, PMID:3312397]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0000040,Long penis,Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0000044,Hypogonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0000061,"Ambiguous genitalia, female",Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0000127,Renal salt wasting,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0000140,Abnormality of the menstrual cycle,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0000144,Decreased fertility,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0000151,Aplasia of the uterus,Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0000811,Abnormal external genitalia,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0000841,Hyperactive renin-angiotensin system,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0000876,Oligomenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0001061,Acne,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0001507,Growth abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0001944,Dehydration,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0001998,Neonatal hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0002153,Hyperkalemia,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0002292,Frontal balding,Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0003113,Hypochloremia,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0003154,Increased circulating ACTH level,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0003639,Elevated urinary epinephrine,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0004012,Premature fusion of the radial epiphyseal plates,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0004319,Decreased circulating aldosterone level,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0005976,Hyperkalemic metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0008163,Decreased circulating cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0008207,Primary adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0008665,Clitoral hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0010465,Precocious puberty in females,Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0011106,Hypovolemia,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0012411,Premature pubarche,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0012412,Premature adrenarche,Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0012417,Hypocapnia,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0012605,Hypernatriuria,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0025380,Increased circulating androstenedione concentration,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0025451,Testicular adrenal rest tumor,Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0025486,Fused labia majora,Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0030088,Increased serum testosterone level,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0030348,Increased circulating androgen concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0031066,Abnormal ovarian physiology,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0031074,Abnormal response to ACTH stimulation test,Very frequent (99-80%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0031213,Elevated circulating 17-hydroxyprogesterone,Very frequent (99-80%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0031216,Increased circulating progesterone,Very frequent (99-80%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0031273,Shock,Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0100779,Urogenital sinus anomaly,Occasional (29-5%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012665,Orphanet,90794,ORPHA:90794,56,HP:0500022,Abnormal circulating dehydroepiandrosterone concentration,Frequent (79-30%),TAS,,,,"[PMID:20301350, PMID:32966723]",y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012669,Orphanet,163937,ORPHA:163937,27,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012677,Orphanet,254478,ORPHA:254478,10,HP:0000498,Blepharitis,Very rare (<4-1%),TAS,,,,"[PMID:23331194, PMID:23626545]",y,y +GARD:0012677,Orphanet,254478,ORPHA:254478,10,HP:0000509,Conjunctivitis,Very rare (<4-1%),TAS,,,,"[PMID:23331194, PMID:23626545]",y,y +GARD:0012677,Orphanet,254478,ORPHA:254478,10,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:23331194, PMID:23626545]",y,y +GARD:0012677,Orphanet,254478,ORPHA:254478,10,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:23331194, PMID:23626545]",y,y +GARD:0012677,Orphanet,254478,ORPHA:254478,10,HP:0001597,Abnormality of the nail,Very rare (<4-1%),TAS,,,,"[PMID:23331194, PMID:23626545]",y,y +GARD:0012677,Orphanet,254478,ORPHA:254478,10,HP:0007535,Hypopigmented streaks,Very frequent (99-80%),TAS,,,,"[PMID:23331194, PMID:23626545]",y,y +GARD:0012677,Orphanet,254478,ORPHA:254478,10,HP:0008066,Abnormal blistering of the skin,Very rare (<4-1%),TAS,,,,"[PMID:23331194, PMID:23626545]",y,y +GARD:0012677,Orphanet,254478,ORPHA:254478,10,HP:0011830,Abnormal oral mucosa morphology,Frequent (79-30%),TAS,,,,"[PMID:23331194, PMID:23626545]",y,y +GARD:0012677,Orphanet,254478,ORPHA:254478,10,HP:0100725,Lichenification,Very frequent (99-80%),TAS,,,,"[PMID:23331194, PMID:23626545]",y,y +GARD:0012677,Orphanet,254478,ORPHA:254478,10,HP:0200037,Skin vesicle,Very frequent (99-80%),TAS,,,,"[PMID:23331194, PMID:23626545]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0001264,Spastic diplegia,Frequent (79-30%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0001712,Left ventricular hypertrophy,Very rare (<4-1%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0002151,Increased serum lactate,Excluded (0%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0002191,Progressive spasticity,Very frequent (99-80%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0002415,Leukodystrophy,Frequent (79-30%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0002928,Decreased activity of the pyruvate dehydrogenase complex,Frequent (79-30%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0008288,Nonketotic hyperglycinemia,Very frequent (99-80%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0008945,Loss of ability to walk in early childhood,Frequent (79-30%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0100543,Cognitive impairment,Excluded (0%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012681,Orphanet,401866,ORPHA:401866,25,HP:0100561,Spinal cord lesion,Frequent (79-30%),TAS,,,,"[PMID:24334290, PMID:26100117]",y,y +GARD:0012682,Orphanet,2744,ORPHA:2744,8,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0012682,Orphanet,2744,ORPHA:2744,8,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0012682,Orphanet,2744,ORPHA:2744,8,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0012682,Orphanet,2744,ORPHA:2744,8,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0012682,Orphanet,2744,ORPHA:2744,8,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012682,Orphanet,2744,ORPHA:2744,8,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012682,Orphanet,2744,ORPHA:2744,8,HP:0007817,Horizontal supranuclear gaze palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012682,Orphanet,2744,ORPHA:2744,8,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0001019,Erythroderma,Occasional (29-5%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0001025,Urticaria,Frequent (79-30%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0001743,Abnormality of the spleen,Very rare (<4-1%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0002716,Lymphadenopathy,Very rare (<4-1%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0004395,Malnutrition,Frequent (79-30%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0005547,Myeloproliferative disorder,Very rare (<4-1%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0005561,Abnormality of bone marrow cell morphology,Very rare (<4-1%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0009123,Mixed hypo- and hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0011354,Generalized abnormality of skin,Very frequent (99-80%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0011971,Dermatographic urticaria,Occasional (29-5%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0025081,Darier's sign,Very frequent (99-80%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0025533,Peau d'orange,Frequent (79-30%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0030828,Wheezing,Occasional (29-5%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0031284,Flushing,Very frequent (99-80%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0031901,Elevated total serum tryptase,Very frequent (99-80%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0100827,Lymphocytosis,Frequent (79-30%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0100845,Anaphylactic shock,Frequent (79-30%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012686,Orphanet,79456,ORPHA:79456,31,HP:0200041,Skin erosion,Frequent (79-30%),TAS,,,,"[PMID:22092511, PMID:30187958]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0001034,Hypermelanotic macule,Frequent (79-30%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0002716,Lymphadenopathy,Excluded (0%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0007583,Telangiectasia macularis eruptiva perstans,Very rare (<4-1%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0011971,Dermatographic urticaria,Very rare (<4-1%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0012733,Macule,Frequent (79-30%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0025081,Darier's sign,Very frequent (99-80%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0025473,Hyperpigmented papule,Frequent (79-30%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0025533,Peau d'orange,Frequent (79-30%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0030350,Erythematous papule,Frequent (79-30%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0031284,Flushing,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0031901,Elevated total serum tryptase,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0040186,Maculopapular exanthema,Frequent (79-30%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0100585,Telangiectasia of the skin,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0100665,Angioedema,Very rare (<4-1%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0100845,Anaphylactic shock,Very rare (<4-1%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0200035,Skin plaque,Frequent (79-30%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0200036,Skin nodule,Frequent (79-30%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012687,Orphanet,79455,ORPHA:79455,31,HP:0200041,Skin erosion,Occasional (29-5%),TAS,,,,"[PMID:30465511, PMID:30855840, PMID:33040350]",y,y +GARD:0012703,Orphanet,2764,ORPHA:2764,13,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:16794036, PMID:21979791]",y,y +GARD:0012703,Orphanet,2764,ORPHA:2764,13,HP:0001367,Abnormal joint morphology,Frequent (79-30%),TAS,,,,"[PMID:16794036, PMID:21979791]",y,y +GARD:0012703,Orphanet,2764,ORPHA:2764,13,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,"[PMID:16794036, PMID:21979791]",y,y +GARD:0012703,Orphanet,2764,ORPHA:2764,13,HP:0001377,Limited elbow extension,Frequent (79-30%),TAS,,,,"[PMID:16794036, PMID:21979791]",y,y +GARD:0012703,Orphanet,2764,ORPHA:2764,13,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,"[PMID:16794036, PMID:21979791]",y,y +GARD:0012703,Orphanet,2764,ORPHA:2764,13,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,"[PMID:16794036, PMID:21979791]",y,y +GARD:0012703,Orphanet,2764,ORPHA:2764,13,HP:0002815,Abnormality of the knee,Very frequent (99-80%),TAS,,,,"[PMID:16794036, PMID:21979791]",y,y +GARD:0012703,Orphanet,2764,ORPHA:2764,13,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:16794036, PMID:21979791]",y,y +GARD:0012703,Orphanet,2764,ORPHA:2764,13,HP:0002992,Abnormality of tibia morphology,Occasional (29-5%),TAS,,,,"[PMID:16794036, PMID:21979791]",y,y +GARD:0012703,Orphanet,2764,ORPHA:2764,13,HP:0003184,Decreased hip abduction,Frequent (79-30%),TAS,,,,"[PMID:16794036, PMID:21979791]",y,y +GARD:0012703,Orphanet,2764,ORPHA:2764,13,HP:0006376,Limited elbow flexion,Frequent (79-30%),TAS,,,,"[PMID:16794036, PMID:21979791]",y,y +GARD:0012703,Orphanet,2764,ORPHA:2764,13,HP:0009050,Quadriceps muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:16794036, PMID:21979791]",y,y +GARD:0012703,Orphanet,2764,ORPHA:2764,13,HP:0011843,Abnormality of musculoskeletal physiology,Frequent (79-30%),TAS,,,,"[PMID:16794036, PMID:21979791]",y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0001249,Intellectual disability,Obligate (100%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0002539,Cortical dysplasia,Occasional (29-5%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:26235985],y,y +GARD:0012715,Orphanet,457260,ORPHA:457260,23,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,[PMID:26235985],y,y +GARD:0012716,Orphanet,228240,ORPHA:228240,7,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,"[PMID:15243519, PMID:22293849]",y,y +GARD:0012716,Orphanet,228240,ORPHA:228240,7,HP:0000973,Cutis laxa,Obligate (100%),TAS,,,,"[PMID:15243519, PMID:22293849]",y,y +GARD:0012716,Orphanet,228240,ORPHA:228240,7,HP:0001055,Erysipelas,Occasional (29-5%),TAS,,,,"[PMID:15243519, PMID:22293849]",y,y +GARD:0012716,Orphanet,228240,ORPHA:228240,7,HP:0100678,Premature skin wrinkling,Very frequent (99-80%),TAS,,,,"[PMID:15243519, PMID:22293849]",y,y +GARD:0012716,Orphanet,228240,ORPHA:228240,7,HP:0100963,Hyperesthesia,Frequent (79-30%),TAS,,,,"[PMID:15243519, PMID:22293849]",y,y +GARD:0012716,Orphanet,228240,ORPHA:228240,7,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,"[PMID:15243519, PMID:22293849]",y,y +GARD:0012716,Orphanet,228240,ORPHA:228240,7,HP:0200036,Skin nodule,Very frequent (99-80%),TAS,,,,"[PMID:15243519, PMID:22293849]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0000597,Ophthalmoparesis,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0003273,Hip contracture,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0003323,Progressive muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0003391,Gowers sign,Frequent (79-30%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0003403,EMG: decremental response of compound muscle action potential to repetitive nerve stimulation,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0003687,Centrally nucleated skeletal muscle fibers,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0003691,Scapular winging,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0003700,Generalized amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0003803,Type 1 muscle fiber predominance,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012718,Orphanet,169186,ORPHA:169186,36,HP:0100807,Long fingers,Occasional (29-5%),TAS,,,,"[PMID:20142620, PMID:25087613]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0000544,External ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0000883,Thin ribs,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0001048,Cavernous hemangioma,Occasional (29-5%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0001436,Abnormality of the foot musculature,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0002047,Malignant hyperthermia,Very rare (<4-1%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0002522,Areflexia of lower limbs,Occasional (29-5%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0002747,Respiratory insufficiency due to muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0003687,Centrally nucleated skeletal muscle fibers,Very frequent (99-80%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0003738,Exercise-induced myalgia,Occasional (29-5%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0003803,Type 1 muscle fiber predominance,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0004488,Macrocephaly at birth,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0005268,Miscarriage,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0008981,Calf muscle hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0008997,Proximal muscle weakness in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0010546,Muscle fibrillation,Frequent (79-30%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012719,Orphanet,169189,ORPHA:169189,30,HP:0012768,Neonatal asphyxia,Occasional (29-5%),TAS,,,,"[PMID:16227997, PMID:18817572]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0000317,Facial myokymia,Very frequent (99-80%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0002310,Orofacial dyskinesia,Very frequent (99-80%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0002322,Resting tremor,Frequent (79-30%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012722,Orphanet,324588,ORPHA:324588,15,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:11310626, PMID:22782511]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0001654,Abnormal heart valve morphology,Frequent (79-30%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0001659,Aortic regurgitation,Frequent (79-30%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0002021,Pyloric stenosis,Very frequent (99-80%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0003834,Shoulder dislocation,Occasional (29-5%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0007165,Periventricular heterotopia,Frequent (79-30%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0012639,Abnormal nervous system morphology,Frequent (79-30%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012724,Orphanet,98892,ORPHA:98892,16,HP:0100790,Hernia,Very frequent (99-80%),TAS,,,,"[PMID:15668422, PMID:28306229, PMID:29449050, PMID:30089473]",y,y +GARD:0012744,Orphanet,2978,ORPHA:2978,6,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0012744,Orphanet,2978,ORPHA:2978,6,HP:0002021,Pyloric stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012744,Orphanet,2978,ORPHA:2978,6,HP:0002242,Abnormal intestine morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012744,Orphanet,2978,ORPHA:2978,6,HP:0002566,Intestinal malrotation,Frequent (79-30%),TAS,,,,,y,y +GARD:0012744,Orphanet,2978,ORPHA:2978,6,HP:0011875,Abnormal platelet morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0012744,Orphanet,2978,ORPHA:2978,6,HP:0012639,Abnormal nervous system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0012749,Orphanet,171622,ORPHA:171622,13,HP:0001256,"Intellectual disability, mild",Obligate (100%),TAS,,,,"[PMID:17515546, PMID:9762694]",y,y +GARD:0012749,Orphanet,171622,ORPHA:171622,13,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:17515546, PMID:9762694]",y,y +GARD:0012749,Orphanet,171622,ORPHA:171622,13,HP:0001761,Pes cavus,Obligate (100%),TAS,,,,"[PMID:17515546, PMID:9762694]",y,y +GARD:0012749,Orphanet,171622,ORPHA:171622,13,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:17515546, PMID:9762694]",y,y +GARD:0012749,Orphanet,171622,ORPHA:171622,13,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:17515546, PMID:9762694]",y,y +GARD:0012749,Orphanet,171622,ORPHA:171622,13,HP:0002191,Progressive spasticity,Frequent (79-30%),TAS,,,,"[PMID:17515546, PMID:9762694]",y,y +GARD:0012749,Orphanet,171622,ORPHA:171622,13,HP:0002355,Difficulty walking,Obligate (100%),TAS,,,,"[PMID:17515546, PMID:9762694]",y,y +GARD:0012749,Orphanet,171622,ORPHA:171622,13,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:17515546, PMID:9762694]",y,y +GARD:0012749,Orphanet,171622,ORPHA:171622,13,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:17515546, PMID:9762694]",y,y +GARD:0012749,Orphanet,171622,ORPHA:171622,13,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:17515546, PMID:9762694]",y,y +GARD:0012749,Orphanet,171622,ORPHA:171622,13,HP:0007133,Progressive peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:17515546, PMID:9762694]",y,y +GARD:0012749,Orphanet,171622,ORPHA:171622,13,HP:0007361,Abnormal pons morphology,Frequent (79-30%),TAS,,,,"[PMID:17515546, PMID:9762694]",y,y +GARD:0012749,Orphanet,171622,ORPHA:171622,13,HP:0008278,Cerebellar cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:17515546, PMID:9762694]",y,y +GARD:0012766,Orphanet,217377,ORPHA:217377,12,HP:0000717,Autism,Occasional (29-5%),TAS,,,,[PMID:19716111],y,y +GARD:0012766,Orphanet,217377,ORPHA:217377,12,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:19716111],y,y +GARD:0012766,Orphanet,217377,ORPHA:217377,12,HP:0000826,Precocious puberty,Frequent (79-30%),TAS,,,,[PMID:19716111],y,y +GARD:0012766,Orphanet,217377,ORPHA:217377,12,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:19716111],y,y +GARD:0012766,Orphanet,217377,ORPHA:217377,12,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:19716111],y,y +GARD:0012766,Orphanet,217377,ORPHA:217377,12,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,[PMID:19716111],y,y +GARD:0012766,Orphanet,217377,ORPHA:217377,12,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,[PMID:19716111],y,y +GARD:0012766,Orphanet,217377,ORPHA:217377,12,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,[PMID:19716111],y,y +GARD:0012766,Orphanet,217377,ORPHA:217377,12,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,[PMID:19716111],y,y +GARD:0012766,Orphanet,217377,ORPHA:217377,12,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,[PMID:19716111],y,y +GARD:0012766,Orphanet,217377,ORPHA:217377,12,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,[PMID:19716111],y,y +GARD:0012766,Orphanet,217377,ORPHA:217377,12,HP:0012557,EEG with centrotemporal focal spike waves,Frequent (79-30%),TAS,,,,[PMID:19716111],y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0001342,Cerebral hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0002138,Subarachnoid hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0002140,Ischemic stroke,Occasional (29-5%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0002181,Cerebral edema,Very rare (<4-1%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0002183,Phonophobia,Occasional (29-5%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0002331,Recurrent paroxysmal headache,Frequent (79-30%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0002352,Leukoencephalopathy,Occasional (29-5%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0004944,Dilatation of the cerebral artery,Occasional (29-5%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0009145,Abnormal cerebral artery morphology,Occasional (29-5%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0012158,Carotid artery dissection,Very rare (<4-1%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0025637,Vasospasm,Very frequent (99-80%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0030746,Intraventricular hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0030907,Thunderclap headache,Very frequent (99-80%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0100309,Subdural hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012768,Orphanet,284388,ORPHA:284388,24,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:27015869, PMID:31582040, PMID:31869187]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000034,Hydrocele testis,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000072,Hydroureter,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000269,Prominent occiput,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000308,Microretrognathia,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000350,Small forehead,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000396,Overfolded helix,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000498,Blepharitis,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0000932,Abnormal posterior cranial fossa morphology,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001615,Hoarse cry,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001655,Patent foramen ovale,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001667,Right ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0001804,Hypoplastic fingernail,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0002025,Anal stenosis,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0002100,Recurrent aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0002265,Large fleshy ears,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0002286,Fair hair,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0002305,Athetosis,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0002616,Aortic root aneurysm,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0002951,Partial absence of cerebellar vermis,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0003324,Generalized muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0004488,Macrocephaly at birth,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0004681,Deep longitudinal plantar crease,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0004742,Abnormal renal collecting system morphology,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0004969,Peripheral pulmonary artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0005830,Flexion contracture of toe,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0006165,Proportionate shortening of all digits,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0006254,Elevated alpha-fetoprotein,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0006829,Severe muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0007441,Hyperpigmented/hypopigmented macules,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0008635,Hypertrophy of the urinary bladder,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0008676,Congenital megaureter,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0008718,Unilateral renal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0008994,Proximal muscle weakness in lower limbs,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0010282,Thin lower lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0010291,Prominent palatine ridges,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0010544,Vertical nystagmus,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0010804,Tented upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0010880,Increased nuchal translucency,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0011247,Prominent superior crus of antihelix,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0011271,Prominent tragus,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0011333,Asymmetric crying face,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0025025,Rectovestibular fistula,Occasional (29-5%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012781,Orphanet,280633,ORPHA:280633,86,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:21493957, PMID:24253414, PMID:26364997, PMID:26394714, PMID:26419326]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0000965,Cutis marmorata,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0001058,Poor wound healing,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0001075,Atrophic scars,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0001876,Pancytopenia,Very rare (<4-1%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0001901,Polycythemia,Very rare (<4-1%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0001974,Leukocytosis,Very rare (<4-1%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0001976,Reduced antithrombin III activity,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0001977,Abnormal thrombosis,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0002140,Ischemic stroke,Very rare (<4-1%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0002160,Hyperhomocystinemia,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0002619,Varicose veins,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0002725,Systemic lupus erythematosus,Very rare (<4-1%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0002814,Abnormality of the lower limb,Very frequent (99-80%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0003029,Enlargement of the ankles,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0003119,Abnormal circulating lipid concentration,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0004855,Reduced protein S activity,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0005293,Venous insufficiency,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0005339,Abnormality of complement system,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0005543,Reduced protein C activity,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0007572,Hyperpigmented streaks,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0012393,Allergy,Very rare (<4-1%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0012514,Lower limb pain,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0025016,Abnormal capillary morphology,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0025343,Lupus anticoagulant,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0030350,Erythematous papule,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0031190,Superficial dermal perivascular inflammatory infiltrate,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0031364,Ecchymosis,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0031365,Macular purpura,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0032018,Multiple mononeuropathy,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0040224,Abnormality of fibrinolysis,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0040248,Reduced plasminogen activator inhibitor 1 activity,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0100647,Graves disease,Very rare (<4-1%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0100724,Hypercoagulability,Frequent (79-30%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0100963,Hyperesthesia,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012784,Orphanet,542643,ORPHA:542643,48,HP:0410008,Abnormality of the peripheral nervous system,Occasional (29-5%),TAS,,,,"[PMID:27297279, PMID:32644463, PMID:33219608]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0000987,Atypical scarring of skin,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0001030,Fragile skin,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0001056,Milia,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0001057,Aplasia cutis congenita,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0001798,Anonychia,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0001802,Absent toenail,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0002031,Abnormal esophagus morphology,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0002043,Esophageal stricture,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0002164,Nail dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0002860,Squamous cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0003234,Decreased plasma carnitine,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0003764,Nevus,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0004057,Mitten deformity,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0004325,Decreased body weight,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0004395,Malnutrition,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0007400,Irregular hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0010296,Ankyloglossia,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0010450,Esophageal stenosis,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0012390,Anal fissure,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0031831,Decreased serum zinc,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0031903,Abnormal circulating selenium concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0032676,Chronic cutaneous wound,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0040303,Decreased serum iron,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0100512,Low levels of vitamin D,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0200020,Corneal erosion,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012794,Orphanet,89842,ORPHA:89842,46,HP:0200041,Skin erosion,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:31487386]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0000657,Oculomotor apraxia,Occasional (29-5%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0000713,Agitation,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0000734,Disinhibition,Frequent (79-30%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0000738,Hallucinations,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0001289,Confusion,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0001300,Parkinsonism,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0002185,Neurofibrillary tangles,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0002186,Apraxia,Occasional (29-5%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0002463,Language impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0003791,Deposits immunoreactive to beta-amyloid protein,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0010525,Finger agnosia,Occasional (29-5%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0010526,Dysgraphia,Occasional (29-5%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0011446,Abnormality of higher mental function,Occasional (29-5%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0012433,Abnormal social behavior,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0012759,Neurodevelopmental abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012798,Orphanet,1020,ORPHA:1020,26,HP:0030219,Semantic dementia,Occasional (29-5%),TAS,,,,"[PMID:20301414, PMID:28093855]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0000854,Thyroid adenoma,Occasional (29-5%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0001028,Hemangioma,Frequent (79-30%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0001480,Freckling,Frequent (79-30%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0002597,Abnormality of the vasculature,Very frequent (99-80%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0002664,Neoplasm,Frequent (79-30%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0002890,Thyroid carcinoma,Frequent (79-30%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0003002,Breast carcinoma,Frequent (79-30%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0003003,Colon cancer,Occasional (29-5%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0003005,Ganglioneuroma,Very frequent (99-80%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0005584,Renal cell carcinoma,Frequent (79-30%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0005987,Multinodular goiter,Occasional (29-5%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0008046,Abnormal retinal vascular morphology,Occasional (29-5%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0010612,Plantar pits,Very frequent (99-80%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0012032,Lipoma,Very frequent (99-80%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0012114,Endometrial carcinoma,Frequent (79-30%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0012480,Abnormal cerebral vein morphology,Occasional (29-5%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0012740,Papilloma,Very frequent (99-80%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0012846,Multiple trichilemmomata,Very frequent (99-80%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0045059,Hyperkeratotic papule,Frequent (79-30%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012800,Orphanet,306498,ORPHA:306498,24,HP:0200034,Papule,Frequent (79-30%),TAS,,,,"[PMID:20301661, PMID:24136893]",y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0000615,Abnormal pupil morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0000828,Abnormality of the parathyroid gland,Frequent (79-30%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0001028,Hemangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0001031,Subcutaneous lipoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0001100,Heterochromia iridis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0001140,Limbal dermoid,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0001334,Communicating hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0002816,Genu recurvatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0005293,Venous insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0009721,Shagreen patch,Frequent (79-30%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0010516,Thymus hyperplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0010807,Open bite,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0010816,Epidermal nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0100559,Lower limb asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0100730,Bronchogenic cyst,Occasional (29-5%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0100774,Hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012801,Orphanet,2969,ORPHA:2969,31,HP:0100777,Exostoses,Frequent (79-30%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0000008,Abnormal morphology of female internal genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0000269,Prominent occiput,Frequent (79-30%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0000913,Posterior rib fusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0000921,Missing ribs,Occasional (29-5%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0003422,Vertebral segmentation defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0005107,Abnormal sacrum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0010306,Short thorax,Frequent (79-30%),TAS,,,,,y,y +GARD:0012806,Orphanet,1797,ORPHA:1797,22,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000125,Pelvic kidney,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000300,Oval face,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000308,Microretrognathia,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000321,Square face,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000480,Retinal coloboma,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000744,Low frustration tolerance,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000817,Poor eye contact,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000891,Cervical ribs,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001660,Truncus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001674,Complete atrioventricular canal defect,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001738,Exocrine pancreatic insufficiency,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001838,Rocker bottom foot,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0002283,Global brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0002474,Expressive language delay,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0002943,Thoracic scoliosis,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0002983,Micromelia,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0003097,Short femur,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0004220,Short middle phalanx of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0005176,Dysplastic aortic valve,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0005306,Capillary hemangioma,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0005484,Secondary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0006695,Atrioventricular canal defect,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0007633,Bilateral microphthalmos,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0008081,Pes valgus,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0009237,Short 5th finger,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0009796,Branchial cyst,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0010109,Short hallux,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0010511,Long toe,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0010529,Echolalia,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0010609,Skin tags,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0010722,Asymmetry of the ears,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0010733,Naevus flammeus of the eyelid,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0011067,Mesiodens,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0011332,Hemifacial hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0011406,Infancy onset short-trunk short stature,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0011470,Nasogastric tube feeding in infancy,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0011755,Ectopic posterior pituitary,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0012304,Hypoplastic aortic arch,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0012584,Bilateral renal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0040019,Finger clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0100033,Tics,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0100807,Long fingers,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:0410003,Cleft maxillary alveolus,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012814,Orphanet,508488,ORPHA:508488,101,HP:3000038,Abnormal cricoid cartilage morphology,Occasional (29-5%),TAS,,,,"[PMID:26437074, PMID:27804958, PMID:28990276, PMID:29738340, PMID:3047248]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000273,Facial grimacing,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000484,Hyperopic astigmatism,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000629,Periorbital fullness,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000637,Long palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000742,Self-mutilation,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000744,Low frustration tolerance,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000748,Inappropriate laughter,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0001566,Widely-spaced maxillary central incisors,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0002121,Generalized non-motor (absence) seizure,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0002546,Incomprehensible speech,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0008770,Obsessive-compulsive trait,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0009836,Broad distal phalanx of finger,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0010511,Long toe,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0012450,Chronic constipation,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0045025,Narrow palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0100033,Tics,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012815,Orphanet,363686,ORPHA:363686,48,HP:0100807,Long fingers,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:23644463, PMID:30482549, PMID:31205050]",y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0000637,Long palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0001291,Abnormal cranial nerve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0012816,Orphanet,228399,ORPHA:228399,20,HP:0009921,Duane anomaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0000239,Large fontanelles,Occasional (29-5%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0000775,Abnormality of the diaphragm,Occasional (29-5%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0000883,Thin ribs,Occasional (29-5%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0001623,Breech presentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0002375,Hypokinesia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0003327,Axial muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0003798,Nemaline bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0003803,Type 1 muscle fiber predominance,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0005855,Multiple prenatal fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0006829,Severe muscular hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0007514,Edema of the dorsum of hands,Occasional (29-5%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0009025,Increased connective tissue,Frequent (79-30%),TAS,,,,,y,y +GARD:0012821,Orphanet,171430,ORPHA:171430,30,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,,y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0000275,Narrow face,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0002375,Hypokinesia,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0002808,Kyphosis,Very rare (<4-1%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0002877,Nocturnal hypoventilation,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0002970,Genu varum,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0003306,Spinal rigidity,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0003325,Limb-girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0003327,Axial muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0003722,Neck flexor weakness,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0003798,Nemaline bodies,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0003803,Type 1 muscle fiber predominance,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0030196,Fatigable weakness of respiratory muscles,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0030198,Fatigable weakness of distal limb muscles,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012822,Orphanet,171436,ORPHA:171436,39,HP:0030200,Fatiguable weakness of proximal limb muscles,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:12207937, PMID:23746549, PMID:25250574, PMID:6733612, PMID:8789770, PMID:9185179]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0001638,Cardiomyopathy,Excluded (0%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0002058,Myopathic facies,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0002375,Hypokinesia,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0002804,Arthrogryposis multiplex congenita,Very rare (<4-1%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0003324,Generalized muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0003798,Nemaline bodies,Very frequent (99-80%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0003803,Type 1 muscle fiber predominance,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0005855,Multiple prenatal fractures,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0006829,Severe muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012823,Orphanet,171433,ORPHA:171433,29,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:20554445, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0000275,Narrow face,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0002068,Neuromuscular dysphagia,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0002483,Bulbar signs,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0002747,Respiratory insufficiency due to muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0002792,Reduced vital capacity,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0003458,EMG: myopathic abnormalities,Very frequent (99-80%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0003484,Upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0003552,Muscle stiffness,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0003722,Neck flexor weakness,Frequent (79-30%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0003798,Nemaline bodies,Very frequent (99-80%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0003803,Type 1 muscle fiber predominance,Frequent (79-30%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0007010,Poor fine motor coordination,Excluded (0%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0007340,Lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0008180,Mildly elevated creatine kinase,Very rare (<4-1%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0009058,Increased muscle lipid content,Frequent (79-30%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0010546,Muscle fibrillation,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012824,Orphanet,171442,ORPHA:171442,29,HP:0031047,Paraproteinemia,Frequent (79-30%),TAS,,,,"[PMID:10417802, PMID:16148261, PMID:22431881, PMID:25205138, PMID:6855830, PMID:8552868]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0000253,Progressive microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0000733,Motor stereotypy,Very frequent (99-80%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0000735,Impaired social interactions,Occasional (29-5%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0000749,Paroxysmal bursts of laughter,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0000817,Poor eye contact,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002133,Status epilepticus,Very rare (<4-1%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002310,Orofacial dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002487,Hyperkinetic movements,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0002795,Abnormal respiratory system physiology,Occasional (29-5%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0003763,Bruxism,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0003781,Excessive salivation,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0007766,Optic disc hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0008850,Severe postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0012171,Stereotypical hand wringing,Very rare (<4-1%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0012469,Infantile spasms,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0030215,Inappropriate crying,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012825,Orphanet,561854,ORPHA:561854,49,HP:0100660,Dyskinesia,Very frequent (99-80%),TAS,,,,"[PMID:28661489, PMID:31454984]",y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0000034,Hydrocele testis,Frequent (79-30%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0000561,Absent eyelashes,Very frequent (99-80%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0000965,Cutis marmorata,Frequent (79-30%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0002223,Absent eyebrow,Very frequent (99-80%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0003550,Predominantly lower limb lymphedema,Very frequent (99-80%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0004334,Dermal atrophy,Occasional (29-5%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0100763,Abnormality of the lymphatic system,Very frequent (99-80%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0100869,Palmar telangiectasia,Very frequent (99-80%),TAS,,,,[PMID:12740761],y,y +GARD:0012827,Orphanet,69735,ORPHA:69735,16,HP:0100870,Plantar telangiectasia,Very frequent (99-80%),TAS,,,,[PMID:12740761],y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0002107,Pneumothorax,Very rare (<4-1%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0002110,Bronchiectasis,Frequent (79-30%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0006510,Chronic pulmonary obstruction,Occasional (29-5%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0025406,Asthenia,Frequent (79-30%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0030830,Crackles,Occasional (29-5%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0031457,Pulmonary opacity,Frequent (79-30%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0032016,Abnormal sputum,Frequent (79-30%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0032130,Mycobacterium abscessus abscessus infection,Occasional (29-5%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0032283,Disseminated nontuberculous mycobacterial infection,Occasional (29-5%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012829,Orphanet,411703,ORPHA:411703,21,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:29332619, PMID:31477038]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0002110,Bronchiectasis,Very frequent (99-80%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0002113,Pulmonary infiltrates,Very frequent (99-80%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0002202,Pleural effusion,Frequent (79-30%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0002878,Respiratory failure,Very frequent (99-80%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0003259,Elevated circulating creatinine concentration,Occasional (29-5%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0003565,Elevated erythrocyte sedimentation rate,Occasional (29-5%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0011227,Elevated circulating C-reactive protein concentration,Occasional (29-5%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0012398,Peripheral edema,Occasional (29-5%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0012418,Hypoxemia,Very frequent (99-80%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0025177,Peribronchovascular interstitial thickening,Very frequent (99-80%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0025179,Ground-glass opacification,Very frequent (99-80%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0025392,Nodular pattern on pulmonary HRCT,Very frequent (99-80%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0025393,Reticulonodular pattern on pulmonary HRCT,Very frequent (99-80%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0030830,Crackles,Frequent (79-30%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0030879,Interlobular septal thickening,Very frequent (99-80%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0031246,Nonproductive cough,Frequent (79-30%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0031631,Subpleural honeycombing,Occasional (29-5%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0031851,Reduced hematocrit,Occasional (29-5%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0045051,Decreased DLCO,Frequent (79-30%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012835,Orphanet,79126,ORPHA:79126,32,HP:0100750,Atelectasis,Occasional (29-5%),TAS,,,,"[PMID:19095855, PMID:29159034, PMID:31333914]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000162,Glossoptosis,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000311,Round face,Frequent (79-30%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000378,Cupped ear,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000410,Mixed hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000527,Long eyelashes,Very frequent (99-80%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0001607,Subglottic stenosis,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0002086,Abnormality of the respiratory system,Very frequent (99-80%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0002212,Curly hair,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0002616,Aortic root aneurysm,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0002645,Wormian bones,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0002779,Tracheomalacia,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0003038,Fibular hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0003074,Hyperglycemia,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0003468,Abnormal vertebral morphology,Frequent (79-30%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0004602,Cervical C2/C3 vertebral fusion,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0006434,Hypoplasia of proximal radius,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0006528,Chronic lung disease,Frequent (79-30%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0008388,Abnormal toenail morphology,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0009894,Thickened ears,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0009937,Facial hirsutism,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0011221,Vertical forehead creases,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0011471,Gastrostomy tube feeding in infancy,Frequent (79-30%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0011842,Abnormal skeletal morphology,Very frequent (99-80%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0011951,Aspiration pneumonia,Frequent (79-30%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0025313,Exophoria,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0030043,Hip subluxation,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0100874,Thick hair,Frequent (79-30%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012845,Orphanet,444077,ORPHA:444077,79,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,"[PMID:25730767, PMID:31058441]",y,y +GARD:0012854,Orphanet,46348,ORPHA:46348,2,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:17145499],y,y +GARD:0012854,Orphanet,46348,ORPHA:46348,2,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,[PMID:17145499],y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0000640,Gaze-evoked nystagmus,Frequent (79-30%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0001152,Saccadic smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0002141,Gait imbalance,Frequent (79-30%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0002174,Postural tremor,Occasional (29-5%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0002346,Head tremor,Occasional (29-5%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0002839,Urinary bladder sphincter dysfunction,Occasional (29-5%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0003124,Hypercholesterolemia,Occasional (29-5%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0006254,Elevated alpha-fetoprotein,Frequent (79-30%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0006855,Cerebellar vermis atrophy,Very frequent (99-80%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0007141,Sensorimotor neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012860,Orphanet,64753,ORPHA:64753,22,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:14736755, PMID:14770181, PMID:18350359, PMID:19696032]",y,y +GARD:0012863,Orphanet,263534,ORPHA:263534,12,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:20164844, PMID:26684698]",y,y +GARD:0012863,Orphanet,263534,ORPHA:263534,12,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,"[PMID:20164844, PMID:26684698]",y,y +GARD:0012863,Orphanet,263534,ORPHA:263534,12,HP:0007605,Excessive wrinkling of palmar skin,Occasional (29-5%),TAS,,,,"[PMID:20164844, PMID:26684698]",y,y +GARD:0012863,Orphanet,263534,ORPHA:263534,12,HP:0008064,Ichthyosis,Frequent (79-30%),TAS,,,,"[PMID:20164844, PMID:26684698]",y,y +GARD:0012863,Orphanet,263534,ORPHA:263534,12,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:20164844, PMID:26684698]",y,y +GARD:0012863,Orphanet,263534,ORPHA:263534,12,HP:0008499,High hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:20164844, PMID:26684698]",y,y +GARD:0012863,Orphanet,263534,ORPHA:263534,12,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:20164844, PMID:26684698]",y,y +GARD:0012863,Orphanet,263534,ORPHA:263534,12,HP:0012393,Allergy,Frequent (79-30%),TAS,,,,"[PMID:20164844, PMID:26684698]",y,y +GARD:0012863,Orphanet,263534,ORPHA:263534,12,HP:0012733,Macule,Occasional (29-5%),TAS,,,,"[PMID:20164844, PMID:26684698]",y,y +GARD:0012863,Orphanet,263534,ORPHA:263534,12,HP:0040189,Scaling skin,Frequent (79-30%),TAS,,,,"[PMID:20164844, PMID:26684698]",y,y +GARD:0012863,Orphanet,263534,ORPHA:263534,12,HP:0200034,Papule,Occasional (29-5%),TAS,,,,"[PMID:20164844, PMID:26684698]",y,y +GARD:0012863,Orphanet,263534,ORPHA:263534,12,HP:0200041,Skin erosion,Occasional (29-5%),TAS,,,,"[PMID:20164844, PMID:26684698]",y,y +GARD:0012864,Orphanet,140905,ORPHA:140905,5,HP:0001013,Eruptive xanthomas,Very frequent (99-80%),TAS,,,,"[PMID:12777476, PMID:1671786, PMID:1933710, PMID:1968704, PMID:22798447, PMID:6961921]",y,y +GARD:0012864,Orphanet,140905,ORPHA:140905,5,HP:0001681,Angina pectoris,Frequent (79-30%),TAS,,,,"[PMID:12777476, PMID:1671786, PMID:1933710, PMID:1968704, PMID:22798447, PMID:6961921]",y,y +GARD:0012864,Orphanet,140905,ORPHA:140905,5,HP:0002155,Hypertriglyceridemia,Obligate (100%),TAS,,,,"[PMID:12777476, PMID:1671786, PMID:1933710, PMID:1968704, PMID:22798447, PMID:6961921]",y,y +GARD:0012864,Orphanet,140905,ORPHA:140905,5,HP:0005181,Premature coronary artery atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:12777476, PMID:1671786, PMID:1933710, PMID:1968704, PMID:22798447, PMID:6961921]",y,y +GARD:0012864,Orphanet,140905,ORPHA:140905,5,HP:0012184,Increased HDL cholesterol concentration,Obligate (100%),TAS,,,,"[PMID:12777476, PMID:1671786, PMID:1933710, PMID:1968704, PMID:22798447, PMID:6961921]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000141,Amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000709,Psychosis,Very rare (<4-1%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000725,Psychotic episodes,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000869,Secondary amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000876,Oligomenorrhea,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0001050,Plethora,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0001058,Poor wound healing,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0001061,Acne,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0001065,Striae distensae,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0001123,Visual field defect,Very rare (<4-1%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0001626,Abnormality of the cardiovascular system,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0001956,Truncal obesity,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0002209,Sparse scalp hair,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0002690,Large sella turcica,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0002953,Vertebral compression fracture,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0003118,Increased circulating cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0003154,Increased circulating ACTH level,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0003466,Paradoxical increased cortisol secretion on dexamethasone suppression test,Very frequent (99-80%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0004324,Increased body weight,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0007126,Proximal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0007807,Optic nerve compression,Very rare (<4-1%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0008221,Adrenal hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0008291,Pituitary corticotropic cell adenoma,Very frequent (99-80%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0010284,Intra-oral hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0010741,Pedal edema,Very rare (<4-1%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0010885,Avascular necrosis,Very rare (<4-1%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0011370,Recurrent cutaneous fungal infections,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0011999,Paranoia,Very rare (<4-1%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0012030,Increased urinary cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0012743,Abdominal obesity,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0025017,Capillary fragility,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0025269,Panic attack,Very rare (<4-1%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0025383,Dorsocervical fat pad,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0030200,Fatiguable weakness of proximal limb muscles,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0031284,Flushing,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0031364,Ecchymosis,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0031589,Suicidal ideation,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0031845,Abnormal libido,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0031891,Decreased eosinophil count,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0040270,Impaired glucose tolerance,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012867,Orphanet,96253,ORPHA:96253,63,HP:0500011,Moon facies,Frequent (79-30%),TAS,,,,"[PMID:27104844, PMID:27974908, PMID:33329407]",y,y +GARD:0012868,Orphanet,209943,ORPHA:209943,11,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0012868,Orphanet,209943,ORPHA:209943,11,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0012868,Orphanet,209943,ORPHA:209943,11,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012868,Orphanet,209943,ORPHA:209943,11,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0012868,Orphanet,209943,ORPHA:209943,11,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0012868,Orphanet,209943,ORPHA:209943,11,HP:0001147,Retinal exudate,Occasional (29-5%),TAS,,,,,y,y +GARD:0012868,Orphanet,209943,ORPHA:209943,11,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,,y,y +GARD:0012868,Orphanet,209943,ORPHA:209943,11,HP:0007906,Ocular hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0012868,Orphanet,209943,ORPHA:209943,11,HP:0007917,Tractional retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0012868,Orphanet,209943,ORPHA:209943,11,HP:0040049,Macular edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0012868,Orphanet,209943,ORPHA:209943,11,HP:0100832,Vitreous floaters,Frequent (79-30%),TAS,,,,,y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0000176,Submucous cleft hard palate,Very rare (<4-1%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0000396,Overfolded helix,Very rare (<4-1%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0000729,Autistic behavior,Very rare (<4-1%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0002339,Abnormal caudate nucleus morphology,Occasional (29-5%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0002340,Caudate atrophy,Occasional (29-5%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0002474,Expressive language delay,Frequent (79-30%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0002546,Incomprehensible speech,Frequent (79-30%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0002705,"High, narrow palate",Very rare (<4-1%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0006977,Grammar-specific speech disorder,Frequent (79-30%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0007015,Poor gross motor coordination,Occasional (29-5%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0010863,Receptive language delay,Frequent (79-30%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0011098,Speech apraxia,Frequent (79-30%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0011228,Horizontal eyebrow,Very rare (<4-1%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0012434,Delayed social development,Occasional (29-5%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012889,Orphanet,209908,ORPHA:209908,23,HP:0031434,Abnormal speech prosody,Frequent (79-30%),TAS,,,,"[PMID:15877281, PMID:2332125, PMID:27336128, PMID:9770548]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0000509,Conjunctivitis,Frequent (79-30%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0000533,Chorioretinal atrophy,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0000612,Iris coloboma,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0001132,Lens subluxation,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0001225,Wrist swelling,Occasional (29-5%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0001287,Meningitis,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0001511,Intrauterine growth retardation,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0001785,Ankle swelling,Occasional (29-5%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0001873,Thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0001933,Subcutaneous hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0002383,Infectious encephalitis,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0002921,Abnormality of the cerebrospinal fluid,Frequent (79-30%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0003496,Increased circulating IgM level,Frequent (79-30%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0005268,Miscarriage,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0006906,Congenital intracerebral calcification,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0007131,Acute demyelinating polyneuropathy,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0007401,Macular atrophy,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0007766,Optic disc hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0007814,Retinal pigment epithelial mottling,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0012486,Myelitis,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0012779,Transient hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0012795,Abnormality of the optic disc,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0030825,Absent foveal reflex,Very rare (<4-1%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012894,Orphanet,448237,ORPHA:448237,34,HP:0040186,Maculopapular exanthema,Very frequent (99-80%),TAS,,,,"[PMID:27028561, PMID:28457349]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000540,Hypermetropia,Very rare (<4-1%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000545,Myopia,Very rare (<4-1%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000563,Keratoconus,Very rare (<4-1%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0001257,Spasticity,Very rare (<4-1%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0002750,Delayed skeletal maturation,Very rare (<4-1%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0003194,Short nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0004322,Short stature,Very rare (<4-1%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0007766,Optic disc hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0008762,Repetitive compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0011039,Abnormal helix morphology,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0012448,Delayed myelination,Very rare (<4-1%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0025100,Abnormal hippocampus morphology,Very rare (<4-1%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012903,Orphanet,401777,ORPHA:401777,39,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:24462372, PMID:26986877, PMID:28963436]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0000275,Narrow face,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0000297,Facial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0001355,Megalencephaly,Very frequent (99-80%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0003199,Decreased muscle mass,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0006829,Severe muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0010804,Tented upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0011182,Interictal epileptiform activity,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0012430,Cerebral white matter hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0012469,Infantile spasms,Very frequent (99-80%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012913,Orphanet,500533,ORPHA:500533,34,HP:0030891,Periventricular white matter hyperintensities,Frequent (79-30%),TAS,,,,"[PMID:17522105, PMID:27170158, PMID:30311510]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0001878,Hemolytic anemia,Very frequent (99-80%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0001923,Reticulocytosis,Very frequent (99-80%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0001972,Macrocytic anemia,Very rare (<4-1%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0002904,Hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0004444,Spherocytosis,Frequent (79-30%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0004446,Stomatocytosis,Frequent (79-30%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0005502,Increased red cell osmotic fragility,Very frequent (99-80%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0011273,Anisocytosis,Occasional (29-5%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0012418,Hypoxemia,Occasional (29-5%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0020181,Reduced haptoglobin level,Very frequent (99-80%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0032231,Hypochromia,Frequent (79-30%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012916,Orphanet,71275,ORPHA:71275,20,HP:0032366,Positive direct antiglobulin test,Very frequent (99-80%),TAS,,,,"[PMID:25413218, PMID:32378229, PMID:32484254]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0000079,Abnormality of the urinary system,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0000478,Abnormality of the eye,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0000982,Palmoplantar keratoderma,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0001030,Fragile skin,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0001056,Milia,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0001075,Atrophic scars,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0001510,Growth delay,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0001798,Anonychia,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0001903,Anemia,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0001965,Abnormal scalp morphology,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0002671,Basal cell carcinoma,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0002860,Squamous cell carcinoma,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0004057,Mitten deformity,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0004386,Gastrointestinal inflammation,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0007455,Adermatoglyphia,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0010562,Keloids,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0011355,Localized skin lesion,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0012056,Cutaneous melanoma,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0012252,Abnormal respiratory system morphology,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0020117,Hypoplastic dermoepidermal hemidesmosomes,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0031464,Genital blistering,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012921,Orphanet,79406,ORPHA:79406,27,HP:0200097,Oral mucosal blisters,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0012922,Orphanet,79402,ORPHA:79402,14,HP:0000982,Palmoplantar keratoderma,Occasional (29-5%),TAS,,,,,y,y +GARD:0012922,Orphanet,79402,ORPHA:79402,14,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012922,Orphanet,79402,ORPHA:79402,14,HP:0001056,Milia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012922,Orphanet,79402,ORPHA:79402,14,HP:0001057,Aplasia cutis congenita,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012922,Orphanet,79402,ORPHA:79402,14,HP:0001075,Atrophic scars,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012922,Orphanet,79402,ORPHA:79402,14,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0012922,Orphanet,79402,ORPHA:79402,14,HP:0001798,Anonychia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012922,Orphanet,79402,ORPHA:79402,14,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0012922,Orphanet,79402,ORPHA:79402,14,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012922,Orphanet,79402,ORPHA:79402,14,HP:0004552,Scarring alopecia of scalp,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012922,Orphanet,79402,ORPHA:79402,14,HP:0006297,Enamel hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0012922,Orphanet,79402,ORPHA:79402,14,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012922,Orphanet,79402,ORPHA:79402,14,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0012922,Orphanet,79402,ORPHA:79402,14,HP:0200097,Oral mucosal blisters,Very frequent (99-80%),TAS,,,,,y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0000987,Atypical scarring of skin,Very rare (<4-1%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0001030,Fragile skin,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0001056,Milia,Very rare (<4-1%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0001057,Aplasia cutis congenita,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0001810,Dystrophic toenail,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0002215,Sparse axillary hair,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0002225,Sparse pubic hair,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0003121,Limb joint contracture,Very rare (<4-1%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0004057,Mitten deformity,Very rare (<4-1%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0004529,"Atrophic, patchy alopecia",Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0004552,Scarring alopecia of scalp,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0008391,Dystrophic fingernails,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0009722,Dental enamel pits,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0011073,Abnormality of dental color,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0031045,Acral blistering,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012923,Orphanet,251393,ORPHA:251393,19,HP:0032156,Skin detachment,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:2052329, PMID:28599695, PMID:7706760]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0000147,Polycystic ovaries,Very rare (<4-1%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0001873,Thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0001919,Acute kidney injury,Very rare (<4-1%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0002360,Sleep disturbance,Very rare (<4-1%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0002960,Autoimmunity,Very rare (<4-1%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0003259,Elevated circulating creatinine concentration,Very rare (<4-1%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0004421,Elevated systolic blood pressure,Very frequent (99-80%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0005117,Elevated diastolic blood pressure,Very frequent (99-80%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0005202,Helicobacter pylori infection,Very rare (<4-1%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0006707,Abnormality of the hepatic vasculature,Occasional (29-5%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0012622,Chronic kidney disease,Very rare (<4-1%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0031418,Increased body mass index,Occasional (29-5%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0100651,Type I diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012924,Orphanet,275555,ORPHA:275555,24,HP:0100767,Abnormal placenta morphology,Very frequent (99-80%),TAS,,,,"[PMID:26693822, PMID:27094609, PMID:29037542, PMID:31487641, PMID:31590294]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0000589,Coloboma,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0001548,Overgrowth,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0001702,Abnormal tricuspid valve morphology,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0002885,Medulloblastoma,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0005249,Functional intestinal obstruction,Frequent (79-30%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0005616,Accelerated skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0006337,Premature eruption of permanent teeth,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0009125,Lipodystrophy,Very frequent (99-80%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0009126,Increased adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0010603,Odontogenic keratocysts of the jaw,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0012424,Chorioretinitis,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012925,Orphanet,199276,ORPHA:199276,22,HP:0100702,Arachnoid cyst,Occasional (29-5%),TAS,,,,"[PMID:12516905, PMID:14417241, PMID:14903312, PMID:19215040, PMID:1988102, PMID:3192332, PMID:3349440, PMID:3779626, PMID:7670494, PMID:8423640]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000020,Urinary incontinence,Very frequent (99-80%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000023,Inguinal hernia,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000028,Cryptorchidism,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000179,Thick lower lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000243,Trigonocephaly,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000248,Brachycephaly,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000577,Exotropia,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000612,Iris coloboma,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000637,Long palpebral fissure,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000646,Amblyopia,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000735,Impaired social interactions,Very frequent (99-80%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001007,Hirsutism,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001118,Juvenile cataract,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001156,Brachydactyly,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001276,Hypertonia,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001488,Bilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001537,Umbilical hernia,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001780,Abnormality of toe,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0001956,Truncal obesity,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0002098,Respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0002209,Sparse scalp hair,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0002788,Recurrent upper respiratory tract infections,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0002835,Aspiration,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0004691,2-3 toe syndactyly,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0005216,Impaired mastication,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0005280,Depressed nasal bridge,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0006288,Advanced eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0007042,Focal white matter lesions,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0008935,Generalized neonatal hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0009890,High anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0010055,Broad hallux,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0010442,Polydactyly,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0011304,Broad thumb,Very rare (<4-1%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0011343,Moderate global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0012450,Chronic constipation,Frequent (79-30%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0025160,Abnormal temper tantrums,Frequent (79-30%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0200006,Slanting of the palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012931,Orphanet,404448,ORPHA:404448,80,HP:0200136,Oral-pharyngeal dysphagia,Frequent (79-30%),TAS,,,,"[PMID:24531329, PMID:25057125, PMID:25533962, PMID:27054228, PMID:29724491, PMID:30107084]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0000117,Renal phosphate wasting,Very frequent (99-80%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0000694,Odontodysplasia,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0000897,Rachitic rosary,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0000920,Enlargement of the costochondral junction,Occasional (29-5%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0000923,Beaded ribs,Occasional (29-5%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0002148,Hypophosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0002308,Chiari malformation,Very rare (<4-1%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0002748,Rickets,Very frequent (99-80%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0002869,Flared iliac wing,Occasional (29-5%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0002979,Bowing of the legs,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0003127,Hypocalciuria,Very frequent (99-80%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0003155,Elevated circulating alkaline phosphatase concentration,Very frequent (99-80%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0003498,Disproportionate short stature,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0003856,Upper limb metaphyseal widening,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0005789,Generalized osteosclerosis,Very rare (<4-1%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0006432,Trapezoidal distal femoral condyles,Occasional (29-5%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0006487,Bowing of the long bones,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0006490,Abnormality of lower-limb metaphyses,Very frequent (99-80%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0008117,Shortening of the talar neck,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0008144,Flattening of the talar dome,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0008442,Vertebral hyperostosis,Occasional (29-5%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0010299,Abnormal dentin morphology,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0012449,Sacroiliac joint synovitis,Occasional (29-5%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0025335,Delayed ability to stand,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0025369,Thick growth plates,Occasional (29-5%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0030757,Tooth abscess,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0100658,Cellulitis,Very rare (<4-1%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012943,Orphanet,89936,ORPHA:89936,41,HP:0100686,Enthesitis,Occasional (29-5%),TAS,,,,"[PMID:22319799, PMID:30928313]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0000051,Perineal hypospadias,Occasional (29-5%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0001319,Neonatal hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0001324,Muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0001332,Dystonia,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0001414,Microvesicular hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0001644,Dilated cardiomyopathy,Very frequent (99-80%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0001657,Prolonged QT interval,Frequent (79-30%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0001998,Neonatal hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0002061,Lower limb spasticity,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0002345,Action tremor,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0002376,Developmental regression,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0003530,Elevated circulating glutaric acid concentration,Very frequent (99-80%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0003535,3-Methylglutaconic aciduria,Very frequent (99-80%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0003700,Generalized amyotrophy,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0004840,Hypochromic microcytic anemia,Frequent (79-30%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0004856,Normochromic microcytic anemia,Frequent (79-30%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0007146,Bilateral basal ganglia lesions,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0007366,Atrophy/Degeneration affecting the brainstem,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0008619,Bilateral sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0008689,Bilateral cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0008762,Repetitive compulsive behavior,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0009110,Diaphragmatic eventration,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0011623,Muscular ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0100660,Dyskinesia,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012964,Orphanet,66634,ORPHA:66634,37,HP:0100702,Arachnoid cyst,Very rare (<4-1%),TAS,,,,"[PMID:16055927, PMID:22797137, PMID:25691889, PMID:27928778]",y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0000365,Hearing impairment,Excluded (0%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0000831,Insulin-resistant diabetes mellitus,Excluded (0%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0001638,Cardiomyopathy,Excluded (0%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0002310,Orofacial dyskinesia,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0002322,Resting tremor,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0003687,Centrally nucleated skeletal muscle fibers,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0007153,Progressive extrapyramidal movement disorder,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0007158,Progressive extrapyramidal muscular rigidity,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0008180,Mildly elevated creatine kinase,Occasional (29-5%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0012751,Abnormal basal ganglia MRI signal intensity,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012978,Orphanet,401768,ORPHA:401768,25,HP:0030230,Central core regions in muscle fibers,Frequent (79-30%),TAS,,,,[PMID:24336167],y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0000206,Glossitis,Very frequent (99-80%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0001889,Megaloblastic anemia,Very frequent (99-80%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0002715,Abnormality of the immune system,Very frequent (99-80%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012983,Orphanet,90045,ORPHA:90045,25,HP:0100825,Cheilitis,Very frequent (99-80%),TAS,,,,"[PMID:11807405, PMID:20301716, PMID:25504888]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0001298,Encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0001644,Dilated cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0001958,Nonketotic hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0002181,Cerebral edema,Occasional (29-5%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0003215,Dicarboxylic aciduria,Occasional (29-5%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0003234,Decreased plasma carnitine,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0003473,Fatigable weakness,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0006554,Acute hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0008151,Prolonged prothrombin time,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0008331,Elevated creatine kinase after exercise,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0011695,Cerebellar hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0011923,Decreased activity of mitochondrial complex I,Obligate (100%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012986,Orphanet,99901,ORPHA:99901,29,HP:0045045,Elevated circulating acylcarnitine concentration,Frequent (79-30%),TAS,,,,"[PMID:17564966, PMID:21057504, PMID:22499348, PMID:25721401, PMID:27233227]",y,y +GARD:0012991,Orphanet,498359,ORPHA:498359,12,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:31310009, PMID:32986261]",y,y +GARD:0012991,Orphanet,498359,ORPHA:498359,12,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,"[PMID:31310009, PMID:32986261]",y,y +GARD:0012991,Orphanet,498359,ORPHA:498359,12,HP:0001047,Atopic dermatitis,Occasional (29-5%),TAS,,,,"[PMID:31310009, PMID:32986261]",y,y +GARD:0012991,Orphanet,498359,ORPHA:498359,12,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:31310009, PMID:32986261]",y,y +GARD:0012991,Orphanet,498359,ORPHA:498359,12,HP:0005425,Recurrent sinopulmonary infections,Occasional (29-5%),TAS,,,,"[PMID:31310009, PMID:32986261]",y,y +GARD:0012991,Orphanet,498359,ORPHA:498359,12,HP:0006261,Abnormal phalangeal joint morphology of the hand,Occasional (29-5%),TAS,,,,"[PMID:31310009, PMID:32986261]",y,y +GARD:0012991,Orphanet,498359,ORPHA:498359,12,HP:0007407,Excessive skin wrinkling on dorsum of hands and fingers,Frequent (79-30%),TAS,,,,"[PMID:31310009, PMID:32986261]",y,y +GARD:0012991,Orphanet,498359,ORPHA:498359,12,HP:0007410,Palmoplantar hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:31310009, PMID:32986261]",y,y +GARD:0012991,Orphanet,498359,ORPHA:498359,12,HP:0025080,Orthokeratotic hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:31310009, PMID:32986261]",y,y +GARD:0012991,Orphanet,498359,ORPHA:498359,12,HP:0031248,Palmar pruritus,Frequent (79-30%),TAS,,,,"[PMID:31310009, PMID:32986261]",y,y +GARD:0012991,Orphanet,498359,ORPHA:498359,12,HP:0031289,White papule,Frequent (79-30%),TAS,,,,"[PMID:31310009, PMID:32986261]",y,y +GARD:0012991,Orphanet,498359,ORPHA:498359,12,HP:0200035,Skin plaque,Occasional (29-5%),TAS,,,,"[PMID:31310009, PMID:32986261]",y,y +GARD:0013003,Orphanet,90283,ORPHA:90283,12,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,"[PMID:25413356, PMID:31632119, PMID:33483145]",y,y +GARD:0013003,Orphanet,90283,ORPHA:90283,12,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:25413356, PMID:31632119, PMID:33483145]",y,y +GARD:0013003,Orphanet,90283,ORPHA:90283,12,HP:0007483,Depigmentation/hyperpigmentation of skin,Excluded (0%),TAS,,,,"[PMID:25413356, PMID:31632119, PMID:33483145]",y,y +GARD:0013003,Orphanet,90283,ORPHA:90283,12,HP:0020151,Anti-dsDNA antibody positivity,Very rare (<4-1%),TAS,,,,"[PMID:25413356, PMID:31632119, PMID:33483145]",y,y +GARD:0013003,Orphanet,90283,ORPHA:90283,12,HP:0025474,Erythematous plaque,Very frequent (99-80%),TAS,,,,"[PMID:25413356, PMID:31632119, PMID:33483145]",y,y +GARD:0013003,Orphanet,90283,ORPHA:90283,12,HP:0025528,Annular cutaneous lesion,Occasional (29-5%),TAS,,,,"[PMID:25413356, PMID:31632119, PMID:33483145]",y,y +GARD:0013003,Orphanet,90283,ORPHA:90283,12,HP:0030057,Autoimmune antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:25413356, PMID:31632119, PMID:33483145]",y,y +GARD:0013003,Orphanet,90283,ORPHA:90283,12,HP:0030351,Urticarial plaque,Occasional (29-5%),TAS,,,,"[PMID:25413356, PMID:31632119, PMID:33483145]",y,y +GARD:0013003,Orphanet,90283,ORPHA:90283,12,HP:0031191,Deep dermal perivascular inflammatory infiltrate,Very frequent (99-80%),TAS,,,,"[PMID:25413356, PMID:31632119, PMID:33483145]",y,y +GARD:0013003,Orphanet,90283,ORPHA:90283,12,HP:0032235,Anti-La/SS-B antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:25413356, PMID:31632119, PMID:33483145]",y,y +GARD:0013003,Orphanet,90283,ORPHA:90283,12,HP:0040189,Scaling skin,Excluded (0%),TAS,,,,"[PMID:25413356, PMID:31632119, PMID:33483145]",y,y +GARD:0013003,Orphanet,90283,ORPHA:90283,12,HP:0100699,Scarring,Excluded (0%),TAS,,,,"[PMID:25413356, PMID:31632119, PMID:33483145]",y,y +GARD:0013004,Orphanet,890,ORPHA:890,12,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:21656652, PMID:25300869, PMID:26412181]",y,y +GARD:0013004,Orphanet,890,ORPHA:890,12,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,"[PMID:21656652, PMID:25300869, PMID:26412181]",y,y +GARD:0013004,Orphanet,890,ORPHA:890,12,HP:0001541,Ascites,Very frequent (99-80%),TAS,,,,"[PMID:21656652, PMID:25300869, PMID:26412181]",y,y +GARD:0013004,Orphanet,890,ORPHA:890,12,HP:0001928,Abnormality of coagulation,Frequent (79-30%),TAS,,,,"[PMID:21656652, PMID:25300869, PMID:26412181]",y,y +GARD:0013004,Orphanet,890,ORPHA:890,12,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:21656652, PMID:25300869, PMID:26412181]",y,y +GARD:0013004,Orphanet,890,ORPHA:890,12,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:21656652, PMID:25300869, PMID:26412181]",y,y +GARD:0013004,Orphanet,890,ORPHA:890,12,HP:0002480,Hepatic encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:21656652, PMID:25300869, PMID:26412181]",y,y +GARD:0013004,Orphanet,890,ORPHA:890,12,HP:0002878,Respiratory failure,Very frequent (99-80%),TAS,,,,"[PMID:21656652, PMID:25300869, PMID:26412181]",y,y +GARD:0013004,Orphanet,890,ORPHA:890,12,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:21656652, PMID:25300869, PMID:26412181]",y,y +GARD:0013004,Orphanet,890,ORPHA:890,12,HP:0003573,Increased total bilirubin,Very frequent (99-80%),TAS,,,,"[PMID:21656652, PMID:25300869, PMID:26412181]",y,y +GARD:0013004,Orphanet,890,ORPHA:890,12,HP:0003645,Prolonged partial thromboplastin time,Frequent (79-30%),TAS,,,,"[PMID:21656652, PMID:25300869, PMID:26412181]",y,y +GARD:0013004,Orphanet,890,ORPHA:890,12,HP:0004324,Increased body weight,Very frequent (99-80%),TAS,,,,"[PMID:21656652, PMID:25300869, PMID:26412181]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0000831,Insulin-resistant diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0001513,Obesity,Obligate (100%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0002591,Polyphagia,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0003292,Decreased serum leptin,Obligate (100%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0004926,Orthostatic hypotension due to autonomic dysfunction,Frequent (79-30%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0005407,Decreased proportion of CD4-positive helper T cells,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0005419,Decreased T cell activation,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0008187,Absence of secondary sex characteristics,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0008214,Decreased serum estradiol,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0008724,Hypoplasia of the ovary,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013015,Orphanet,66628,ORPHA:66628,20,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:9202122]",y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0000587,Abnormality of the optic nerve,Frequent (79-30%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0002170,Intracranial hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0002488,Acute leukemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0002878,Respiratory failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0003010,Prolonged bleeding time,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0005528,Bone marrow hypocellularity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0005547,Myeloproliferative disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0011991,Abnormal neutrophil count,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013030,Orphanet,3226,ORPHA:3226,28,HP:0100724,Hypercoagulability,Frequent (79-30%),TAS,,,,,y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000473,Torticollis,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000570,Abnormal saccadic eye movements,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000657,Oculomotor apraxia,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000735,Impaired social interactions,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001250,Seizure,Obligate (100%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001264,Spastic diplegia,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001338,Partial agenesis of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001339,Lissencephaly,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001491,Congenital fibrosis of extraocular muscles,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0001840,Metatarsus adductus,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002126,Polymicrogyria,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002134,Abnormality of the basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002334,Abnormal cerebellar vermis morphology,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002343,Normal pressure hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002365,Hypoplasia of the brainstem,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002474,Expressive language delay,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002497,Spastic ataxia,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002510,Spastic tetraplegia,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002943,Thoracic scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0002967,Cubitus valgus,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0005216,Impaired mastication,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0005469,Flat occiput,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0007048,Large basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0007260,Type II lissencephaly,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0008619,Bilateral sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0009062,Infantile axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0009879,Simplified gyral pattern,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0010663,Abnormality of thalamus morphology,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0010862,Delayed fine motor development,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0011451,Primary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0012434,Delayed social development,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0012697,Small basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0025101,Dysgenesis of the hippocampus,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0025336,Delayed ability to sit,Frequent (79-30%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0030302,Agenesis of the anterior commissure,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0030534,Abnormal best corrected visual acuity test,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0030903,Grasp reflex,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0040326,Hypoplasia of the olfactory bulb,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0100785,Insomnia,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013032,Orphanet,300570,ORPHA:300570,79,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,"[PMID:20074521, PMID:20829227, PMID:24860126, PMID:24932993, PMID:26130693, PMID:26639658, PMID:26739025, PMID:27781032, PMID:28951247, PMID:30016746]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0000271,Abnormality of the face,Occasional (29-5%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0000820,Abnormality of the thyroid gland,Very rare (<4-1%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0001030,Fragile skin,Frequent (79-30%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0001075,Atrophic scars,Frequent (79-30%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0001965,Abnormal scalp morphology,Occasional (29-5%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0002814,Abnormality of the lower limb,Frequent (79-30%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0002860,Squamous cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0002973,Abnormality of the forearm,Occasional (29-5%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0011123,Inflammatory abnormality of the skin,Very frequent (99-80%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0011990,Abnormality of neutrophil physiology,Frequent (79-30%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0025528,Annular cutaneous lesion,Very frequent (99-80%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0032217,Indurated nodule,Frequent (79-30%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0032252,Granuloma,Frequent (79-30%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0200034,Papule,Frequent (79-30%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0200035,Skin plaque,Frequent (79-30%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0200036,Skin nodule,Frequent (79-30%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013040,Orphanet,542592,ORPHA:542592,21,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,"[PMID:26143418, PMID:27686584, PMID:29352388, PMID:31719288, PMID:32023016]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000589,Coloboma,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000699,Diastema,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001195,Single umbilical artery,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001238,Slender finger,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0002317,Unsteady gait,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0002389,Cavum septum pellucidum,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0002951,Partial absence of cerebellar vermis,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0005421,Decreased serum complement C3,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0010821,Focal emotional seizure with laughing,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0012210,Abnormal renal morphology,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0012523,Oral aversion,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0025160,Abnormal temper tantrums,Frequent (79-30%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013043,Orphanet,329224,ORPHA:329224,59,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:23159249, PMID:26842493, PMID:30113927]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0000282,Facial edema,Occasional (29-5%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0002783,Recurrent lower respiratory tract infections,Occasional (29-5%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0003073,Hypoalbuminemia,Very frequent (99-80%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0003075,Hypoproteinemia,Frequent (79-30%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0003124,Hypercholesterolemia,Frequent (79-30%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0005413,Increased alpha-globulin,Frequent (79-30%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0009125,Lipodystrophy,Frequent (79-30%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013056,Orphanet,86816,ORPHA:86816,19,HP:0030851,Low pulse pressure,Occasional (29-5%),TAS,,,,"[PMID:29214768, PMID:29981851, PMID:31057599]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0001041,Facial erythema,Frequent (79-30%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0001249,Intellectual disability,Obligate (100%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0002104,Apnea,Frequent (79-30%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0002181,Cerebral edema,Frequent (79-30%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0002453,Abnormal globus pallidus morphology,Frequent (79-30%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0002500,Abnormal cerebral white matter morphology,Very frequent (99-80%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0007015,Poor gross motor coordination,Frequent (79-30%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0010818,Generalized tonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0010851,EEG with burst suppression,Very frequent (99-80%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0011097,Epileptic spasm,Frequent (79-30%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0012736,Profound global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013060,Orphanet,439218,ORPHA:439218,22,HP:0200134,Epileptic encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:12742592, PMID:23621294]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0001052,Nevus flammeus,Occasional (29-5%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0001595,Abnormal hair morphology,Occasional (29-5%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0010566,Hamartoma,Very frequent (99-80%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0025249,Comedo,Very frequent (99-80%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013073,Orphanet,64754,ORPHA:64754,16,HP:0100258,Preaxial polydactyly,Occasional (29-5%),TAS,,,,"[PMID:20542174, PMID:23888253]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0000092,Renal tubular atrophy,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0000097,Focal segmental glomerulosclerosis,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0000114,Proximal tubulopathy,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0000117,Renal phosphate wasting,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0000121,Nephrocalcinosis,Frequent (79-30%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0000787,Nephrolithiasis,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0000790,Hematuria,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0002150,Hypercalciuria,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0002663,Delayed epiphyseal ossification,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0002748,Rickets,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0002749,Osteomalacia,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0002752,Sparse bone trabeculae,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0002753,Thin bony cortex,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0002814,Abnormality of the lower limb,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0002979,Bowing of the legs,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0003013,Bulging epiphyses,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0003020,Enlargement of the wrists,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0003025,Metaphyseal irregularity,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0003029,Enlargement of the ankles,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0003076,Glycosuria,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0003109,Hyperphosphaturia,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0003126,Low-molecular-weight proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0003149,Hyperuricosuria,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0005574,Non-acidotic proximal tubulopathy,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0005576,Tubulointerstitial fibrosis,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0008732,Renal hypophosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0010580,Enlarged epiphyses,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0012622,Chronic kidney disease,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013105,Orphanet,1652,ORPHA:1652,40,HP:0031415,High serum calcitriol,Very frequent (99-80%),TAS,,,,"[PMID:10202170, PMID:11099045, PMID:12815097, PMID:1372109, PMID:15558518, PMID:15627218, PMID:1908057, PMID:20946626, PMID:3316563, PMID:7753256, PMID:7915957, PMID:9452994]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0000570,Abnormal saccadic eye movements,Occasional (29-5%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0001009,Telangiectasia,Excluded (0%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0001251,Ataxia,Obligate (100%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0001780,Abnormality of toe,Occasional (29-5%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0002442,Dyscalculia,Occasional (29-5%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0003560,Muscular dystrophy,Occasional (29-5%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0007141,Sensorimotor neuropathy,Occasional (29-5%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0008955,Progressive distal muscular atrophy,Occasional (29-5%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0010522,Dyslexia,Occasional (29-5%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013111,Orphanet,459033,ORPHA:459033,21,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:25728773, PMID:28552035, PMID:29498415]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0001635,Congestive heart failure,Very frequent (99-80%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0001693,Cardiac shunt,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0001708,Right ventricular failure,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0001871,Abnormality of blood and blood-forming tissues,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0002037,Inflammation of the large intestine,Very rare (<4-1%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0002092,Pulmonary arterial hypertension,Very frequent (99-80%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0002204,Pulmonary embolism,Frequent (79-30%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0002625,Deep venous thrombosis,Frequent (79-30%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0002664,Neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0002754,Osteomyelitis,Very rare (<4-1%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0002792,Reduced vital capacity,Frequent (79-30%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0003613,Antiphospholipid antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0004831,Recurrent thromboembolism,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0005133,Right ventricular dilatation,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0005135,Abnormal T-wave,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0005162,Abnormal left ventricular function,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0005317,Increased pulmonary vascular resistance,Very frequent (99-80%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0005547,Myeloproliferative disorder,Very rare (<4-1%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0010536,Central sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0011227,Elevated circulating C-reactive protein concentration,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0011712,Right bundle branch block,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0011901,Dysfibrinogenemia,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0012146,Abnormality of von Willebrand factor,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0012184,Increased HDL cholesterol concentration,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0012417,Hypocapnia,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0025343,Lupus anticoagulant,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0030718,Right atrial enlargement,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0030877,Reduced FEV1/FVC ratio,Frequent (79-30%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013124,Orphanet,70591,ORPHA:70591,37,HP:0030977,Increased factor VIII activity,Occasional (29-5%),TAS,,,,"[PMID:19165231, PMID:30576568, PMID:30768356, PMID:31023842, PMID:31084984]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0000147,Polycystic ovaries,Very frequent (99-80%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0000292,Loss of facial adipose tissue,Excluded (0%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0000831,Insulin-resistant diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0000876,Oligomenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0000956,Acanthosis nigricans,Very frequent (99-80%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0001397,Hepatic steatosis,Very frequent (99-80%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0001733,Pancreatitis,Very frequent (99-80%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0003077,Hyperlipidemia,Very frequent (99-80%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0003292,Decreased serum leptin,Very frequent (99-80%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0003635,Loss of subcutaneous adipose tissue in limbs,Obligate (100%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0008981,Calf muscle hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0009017,Loss of gluteal subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0009042,Marked muscular hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0009125,Lipodystrophy,Obligate (100%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013125,Orphanet,435651,ORPHA:435651,17,HP:0030685,Decreased adiponectin level,Very frequent (99-80%),TAS,,,,"[PMID:18654663, PMID:20049731]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0000147,Polycystic ovaries,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0000468,Increased adipose tissue around the neck,Obligate (100%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0000831,Insulin-resistant diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0000855,Insulin resistance,Obligate (100%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0000876,Oligomenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0000956,Acanthosis nigricans,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0001397,Hepatic steatosis,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0003077,Hyperlipidemia,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0003292,Decreased serum leptin,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0003635,Loss of subcutaneous adipose tissue in limbs,Obligate (100%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0008993,Increased intraabdominal fat,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0008997,Proximal muscle weakness in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0009017,Loss of gluteal subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0009042,Marked muscular hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0009125,Lipodystrophy,Obligate (100%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0012881,Abnormal labia majora morphology,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013126,Orphanet,435660,ORPHA:435660,21,HP:0030685,Decreased adiponectin level,Very frequent (99-80%),TAS,,,,"[PMID:24375490, PMID:24848981]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0001638,Cardiomyopathy,Excluded (0%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0002878,Respiratory failure,Excluded (0%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0003376,Steppage gait,Frequent (79-30%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0003687,Centrally nucleated skeletal muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0003731,Quadriceps muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0003805,Rimmed vacuoles,Frequent (79-30%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0008959,Distal upper limb muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0008994,Proximal muscle weakness in lower limbs,Occasional (29-5%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0009049,Peroneal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0009058,Increased muscle lipid content,Frequent (79-30%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0009077,Weakness of long finger extensor muscles,Excluded (0%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013154,Orphanet,609,ORPHA:609,19,HP:0031374,Ankle weakness,Frequent (79-30%),TAS,,,,"[PMID:12891679, PMID:15728284, PMID:22197426, PMID:9497249, PMID:9855539]",y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0003298,Spina bifida occulta,Frequent (79-30%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0009826,Limb undergrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0010655,Epiphyseal stippling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,,y,y +GARD:0013160,Orphanet,177,ORPHA:177,20,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,,y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0000708,Behavioral abnormality,Very rare (<4-1%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0000743,Frontal release signs,Frequent (79-30%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0001300,Parkinsonism,Very frequent (99-80%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0002304,Akinesia,Frequent (79-30%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0002357,Dysphasia,Occasional (29-5%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0007158,Progressive extrapyramidal muscular rigidity,Very frequent (99-80%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0007301,Oromotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0030217,Limb apraxia,Frequent (79-30%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0045084,Limb myoclonus,Frequent (79-30%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013168,Orphanet,454887,ORPHA:454887,23,HP:0100022,Abnormality of movement,Very rare (<4-1%),TAS,,,,"[PMID:21853287, PMID:23359374, PMID:29269636, PMID:30090966]",y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0001552,Barrel-shaped chest,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0002515,Waddling gait,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0002945,Intervertebral space narrowing,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0002967,Cubitus valgus,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0003037,Enlarged joints,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0003521,Disproportionate short-trunk short stature,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0009811,Abnormality of the elbow,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0010582,Irregular epiphyses,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0010585,Small epiphyses,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,[PMID:19320654],y,y +GARD:0013169,Orphanet,263463,ORPHA:263463,26,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,[PMID:19320654],y,y +GARD:0013173,Orphanet,639,ORPHA:639,9,HP:0002166,Impaired vibration sensation in the lower limbs,Very frequent (99-80%),TAS,,,,"[PMID:1706212, PMID:19720975, PMID:7953603, PMID:8673490]",y,y +GARD:0013173,Orphanet,639,ORPHA:639,9,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:1706212, PMID:19720975, PMID:7953603, PMID:8673490]",y,y +GARD:0013173,Orphanet,639,ORPHA:639,9,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:1706212, PMID:19720975, PMID:7953603, PMID:8673490]",y,y +GARD:0013173,Orphanet,639,ORPHA:639,9,HP:0005508,Monoclonal immunoglobulin M proteinemia,Frequent (79-30%),TAS,,,,"[PMID:1706212, PMID:19720975, PMID:7953603, PMID:8673490]",y,y +GARD:0013173,Orphanet,639,ORPHA:639,9,HP:0006865,Sensorimotor polyneuropathy affecting arms more than legs,Excluded (0%),TAS,,,,"[PMID:1706212, PMID:19720975, PMID:7953603, PMID:8673490]",y,y +GARD:0013173,Orphanet,639,ORPHA:639,9,HP:0007133,Progressive peripheral neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:1706212, PMID:19720975, PMID:7953603, PMID:8673490]",y,y +GARD:0013173,Orphanet,639,ORPHA:639,9,HP:0007220,Demyelinating motor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:1706212, PMID:19720975, PMID:7953603, PMID:8673490]",y,y +GARD:0013173,Orphanet,639,ORPHA:639,9,HP:0011402,Demyelinating sensory neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:1706212, PMID:19720975, PMID:7953603, PMID:8673490]",y,y +GARD:0013173,Orphanet,639,ORPHA:639,9,HP:0100287,EMG: slow motor conduction,Frequent (79-30%),TAS,,,,"[PMID:1706212, PMID:19720975, PMID:7953603, PMID:8673490]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0001392,Abnormality of the liver,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0001402,Hepatocellular carcinoma,Occasional (29-5%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0001789,Hydrops fetalis,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0001928,Abnormality of coagulation,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0001976,Reduced antithrombin III activity,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0002160,Hyperhomocystinemia,Very frequent (99-80%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0003073,Hypoalbuminemia,Very frequent (99-80%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0003235,Hypermethioninemia,Occasional (29-5%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0003429,CNS hypomyelination,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0003560,Muscular dystrophy,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0007141,Sensorimotor neuropathy,Occasional (29-5%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0008151,Prolonged prothrombin time,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0008169,Reduced factor VII activity,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0010719,Abnormality of hair texture,Occasional (29-5%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0010901,Abnormal circulating methionine concentration,Very frequent (99-80%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0010919,Abnormal circulating homocysteine concentration,Very frequent (99-80%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0011900,Hypofibrinogenemia,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0011996,Elevated coagulation factor V activity,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0012110,Hypoplasia of the pons,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013177,Orphanet,88618,ORPHA:88618,44,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:15024124, PMID:2380820, PMID:26527160, PMID:27671891, PMID:28168361]",y,y +GARD:0013186,Orphanet,158003,ORPHA:158003,6,HP:0000159,Abnormal lip morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0013186,Orphanet,158003,ORPHA:158003,6,HP:0000600,Abnormality of the pharynx,Occasional (29-5%),TAS,,,,,y,y +GARD:0013186,Orphanet,158003,ORPHA:158003,6,HP:0000873,Diabetes insipidus,Frequent (79-30%),TAS,,,,,y,y +GARD:0013186,Orphanet,158003,ORPHA:158003,6,HP:0001600,Abnormality of the larynx,Occasional (29-5%),TAS,,,,,y,y +GARD:0013186,Orphanet,158003,ORPHA:158003,6,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013186,Orphanet,158003,ORPHA:158003,6,HP:0025426,Abnormal bronchus morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0001636,Tetralogy of Fallot,Very rare (<4-1%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0002344,Progressive neurologic deterioration,Very frequent (99-80%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0002352,Leukoencephalopathy,Occasional (29-5%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0002521,Hypsarrhythmia,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0002599,Head titubation,Very rare (<4-1%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0003287,Abnormality of mitochondrial metabolism,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0003468,Abnormal vertebral morphology,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0011334,Facial shape deformation,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0012469,Infantile spasms,Frequent (79-30%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013202,Orphanet,88639,ORPHA:88639,31,HP:0012697,Small basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:24299452, PMID:25251209, PMID:26163321, PMID:7122152]",y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000276,Long face,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000444,Convex nasal ridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000677,Oligodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0001863,Toe clinodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0002546,Incomprehensible speech,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0008070,Sparse hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0010059,Broad hallux phalanx,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,,y,y +GARD:0013206,Orphanet,251019,ORPHA:251019,43,HP:0100024,Conspicuously happy disposition,Occasional (29-5%),TAS,,,,,y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0000786,Primary amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0000821,Hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0000835,Adrenal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Very frequent (99-80%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0011755,Ectopic posterior pituitary,Obligate (100%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013209,Orphanet,95496,ORPHA:95496,17,HP:0100842,Septo-optic dysplasia,Occasional (29-5%),TAS,,,,"[PMID:22466334, PMID:25322266, PMID:26733480, PMID:9329385]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0000253,Progressive microcephaly,Frequent (79-30%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0000735,Impaired social interactions,Frequent (79-30%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0002487,Hyperkinetic movements,Occasional (29-5%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0012171,Stereotypical hand wringing,Frequent (79-30%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0030215,Inappropriate crying,Occasional (29-5%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013221,Orphanet,397933,ORPHA:397933,17,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:27010919, PMID:28815955]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0003391,Gowers sign,Frequent (79-30%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0003547,Shoulder girdle muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0005109,Abnormality of the Achilles tendon,Occasional (29-5%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0005853,Congenital foot contraction deformities,Frequent (79-30%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0008944,Distal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013222,Orphanet,363454,ORPHA:363454,17,HP:0030237,Hand muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:22628388, PMID:23664120]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0001259,Coma,Very frequent (99-80%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0002171,Gliosis,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0002181,Cerebral edema,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0002363,Abnormal brainstem morphology,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0002510,Spastic tetraplegia,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0002793,Abnormal pattern of respiration,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0002922,Increased CSF protein,Very frequent (99-80%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0006846,Acute encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0010663,Abnormality of thalamus morphology,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0011887,Choroid hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0012747,Abnormal brainstem MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0025404,Abnormal visual fixation,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013232,Orphanet,88619,ORPHA:88619,24,HP:0031982,Abnormal putamen morphology,Frequent (79-30%),TAS,,,,"[PMID:12874403, PMID:19118815]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000023,Inguinal hernia,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000363,Abnormal earlobe morphology,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000752,Hyperactivity,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0002967,Cubitus valgus,Occasional (29-5%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0004326,Cachexia,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0004422,Biparietal narrowing,Occasional (29-5%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0010720,Abnormal hair pattern,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0010807,Open bite,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0200021,Down-sloping shoulders,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013244,Orphanet,85293,ORPHA:85293,49,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,"[PMID:10978355, PMID:20002452, PMID:25251057, PMID:8826447]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0000123,Nephritis,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0000246,Sinusitis,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0000587,Abnormality of the optic nerve,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0000929,Abnormal skull morphology,Very rare (<4-1%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0001880,Eosinophilia,Very rare (<4-1%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0002088,Abnormal lung morphology,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0002176,Spinal cord compression,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0002385,Paraparesis,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0002840,Lymphadenitis,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0002921,Abnormality of the cerebrospinal fluid,Very frequent (99-80%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0003319,Abnormality of the cervical spine,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0003419,Low back pain,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0004431,Complement deficiency,Very rare (<4-1%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0009744,Abnormal spinal dura mater morphology,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0009911,Abnormal temporal bone morphology,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0010558,Abnormality of the clivus,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0010652,Abnormal dura mater morphology,Very frequent (99-80%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0011850,Parotitis,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0030833,Neck pain,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0032300,Increased circulating IgG4 level,Frequent (79-30%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:0045052,Abnormality of the brachial nerve plexus,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013256,Orphanet,449427,ORPHA:449427,39,HP:3000035,Abnormality of cervical plexus,Occasional (29-5%),TAS,,,,"[PMID:27592235, PMID:31155444, PMID:31355304]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0001519,Disproportionate tall stature,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0003189,Long nose,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0004673,Decreased facial expression,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0009765,Low hanging columella,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013259,Orphanet,352577,ORPHA:352577,41,HP:0100023,Recurrent hand flapping,Occasional (29-5%),TAS,,,,"[PMID:27901041, PMID:28100473, PMID:31180560]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0000474,Thickened nuchal skin fold,Frequent (79-30%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0001339,Lissencephaly,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0001531,Failure to thrive in infancy,Very frequent (99-80%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0001776,Bilateral talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0002154,Hyperglycinemia,Very frequent (99-80%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0002392,EEG with polyspike wave complexes,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0003121,Limb joint contracture,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0006466,Ankle flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0007704,Paroxysmal involuntary eye movements,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0009062,Infantile axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0009879,Simplified gyral pattern,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0011097,Epileptic spasm,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0011196,EEG with focal sharp waves,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0011451,Primary microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0012279,Hyposerinemia,Very frequent (99-80%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0012430,Cerebral white matter hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0012736,Profound global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0030215,Inappropriate crying,Very frequent (99-80%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013273,Orphanet,284417,ORPHA:284417,40,HP:0200048,Cyanotic episode,Occasional (29-5%),TAS,,,,"[PMID:17436247, PMID:23463425, PMID:26960553, PMID:29269105, PMID:30122079]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0002126,Polymicrogyria,Very rare (<4-1%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0002349,Focal aware seizure,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0002367,Visual hallucinations,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0002427,Expressive aphasia,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0002521,Hypsarrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0007206,Hemimegalencephaly,Very rare (<4-1%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0007359,Focal-onset seizure,Very frequent (99-80%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0008765,Auditory hallucinations,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0010841,Multifocal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0011171,Simple febrile seizure,Very rare (<4-1%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0011185,EEG with focal epileptiform discharges,Very frequent (99-80%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0012005,Deja vu aura,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0025373,Interictal EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0031284,Flushing,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0031951,Nocturnal seizures,Frequent (79-30%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0032046,Focal cortical dysplasia,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013295,Orphanet,98820,ORPHA:98820,26,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:10825362, PMID:27683934, PMID:28170089, PMID:30767899]",y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0002539,Cortical dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0013296,Orphanet,261272,ORPHA:261272,17,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0000003,Multicystic kidney dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0000049,Shawl scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0000070,Ureterocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0000239,Large fontanelles,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0012157,Subcortical cerebral atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0013297,Orphanet,261265,ORPHA:261265,21,HP:0100801,Pancreatic aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000060,Clitoral hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000064,Hypoplastic labia minora,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000217,Xerostomia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000446,Narrow nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000789,Infertility,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001612,Weak cry,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0002033,Poor suck,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0002494,Abnormal rapid eye movement sleep,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0003241,External genital hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0004324,Increased body weight,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0005599,Hypopigmentation of hair,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0005968,Temperature instability,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0006889,"Intellectual disability, borderline",Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0007874,Almond-shaped palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0008197,Absence of pubertal development,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0010535,Sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0010536,Central sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0011787,Central hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0012166,Skin-picking,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0012287,Hypothalamic luteinizing hormone-releasing hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0012411,Premature pubarche,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0012450,Chronic constipation,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0012506,Small pituitary gland,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0012743,Abdominal obesity,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0025160,Abnormal temper tantrums,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0025237,Confusional arousal,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0040030,Chorioretinal hypopigmentation,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0040288,Nasogastric tube feeding,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013316,Orphanet,398069,ORPHA:398069,81,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:27195816]",y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0000253,Progressive microcephaly,Frequent (79-30%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0001118,Juvenile cataract,Frequent (79-30%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0001285,Spastic tetraparesis,Frequent (79-30%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0003698,Difficulty standing,Occasional (29-5%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:25439727],y,y +GARD:0013319,Orphanet,438178,ORPHA:438178,22,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,[PMID:25439727],y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0000164,Abnormality of the dentition,Excluded (0%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0000606,Abnormality of the periorbital region,Occasional (29-5%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0000819,Diabetes mellitus,Excluded (0%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0001005,Dermatological manifestations of systemic disorders,Excluded (0%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0001231,Abnormal fingernail morphology,Excluded (0%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0001965,Abnormal scalp morphology,Occasional (29-5%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0005585,Spotty hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0007473,Crusting erythematous dermatitis,Occasional (29-5%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0011123,Inflammatory abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0011124,Abnormal epidermal morphology,Frequent (79-30%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0011830,Abnormal oral mucosa morphology,Very rare (<4-1%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0012322,Perifolliculitis,Occasional (29-5%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0012622,Chronic kidney disease,Excluded (0%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0025164,Increased number of elastic fibers in the dermis,Frequent (79-30%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0030350,Erythematous papule,Very frequent (99-80%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0031512,Abnormal cutaneous collagen fibril morphology,Frequent (79-30%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0040186,Maculopapular exanthema,Very frequent (99-80%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013331,Orphanet,79147,ORPHA:79147,20,HP:0045059,Hyperkeratotic papule,Frequent (79-30%),TAS,,,,"[PMID:17567305, PMID:20101333, PMID:24891662, PMID:4166922, PMID:4425619]",y,y +GARD:0013354,Orphanet,35737,ORPHA:35737,7,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013354,Orphanet,35737,ORPHA:35737,7,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0013354,Orphanet,35737,ORPHA:35737,7,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0013354,Orphanet,35737,ORPHA:35737,7,HP:0000588,Optic disc coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0013354,Orphanet,35737,ORPHA:35737,7,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0013354,Orphanet,35737,ORPHA:35737,7,HP:0000646,Amblyopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013354,Orphanet,35737,ORPHA:35737,7,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0000141,Amenorrhea,Very rare (<4-1%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0000147,Polycystic ovaries,Very rare (<4-1%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0000336,Prominent supraorbital ridges,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0000842,Hyperinsulinemia,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0000876,Oligomenorrhea,Very rare (<4-1%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0000998,Hypertrichosis,Frequent (79-30%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0001015,Prominent superficial veins,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0001833,Long foot,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0003124,Hypercholesterolemia,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0003247,Overgrowth of external genitalia,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0003712,Skeletal muscle hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0005616,Accelerated skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0008665,Clitoral hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0008887,Adipose tissue loss,Very frequent (99-80%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0009125,Lipodystrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0010465,Precocious puberty in females,Very rare (<4-1%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0011407,Proportionate tall stature,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0012062,Bone cyst,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0025356,Psychomotor retardation,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013388,Orphanet,528,ORPHA:528,38,HP:0030796,Increased C-peptide level,Occasional (29-5%),TAS,,,,"[PMID:20301391, PMID:29690976, PMID:31724546]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000089,Renal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0001743,Abnormality of the spleen,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0005288,Abnormality of the nares,Occasional (29-5%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013390,Orphanet,94063,ORPHA:94063,37,HP:0010739,Osteopoikilosis,Frequent (79-30%),TAS,,,,"[PMID:17220210, PMID:22140081, PMID:22987822]",y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000341,Narrow forehead,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000609,Optic nerve hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000717,Autism,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001611,Nasal speech,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001840,Metatarsus adductus,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0001863,Toe clinodactyly,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0002213,Fine hair,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0005274,Prominent nasal tip,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,[PMID:20799320],y,y +GARD:0013391,Orphanet,261349,ORPHA:261349,77,HP:0100625,Enlarged thorax,Occasional (29-5%),TAS,,,,[PMID:20799320],y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0000385,Small earlobe,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0000925,Abnormality of the vertebral column,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0002474,Expressive language delay,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0002779,Tracheomalacia,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0002781,Upper airway obstruction,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0006951,Retrocerebellar cyst,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0009909,Uplifted earlobe,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0011477,Upbeat nystagmus,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0025267,Snoring,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0025573,Mild myopia,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013409,Orphanet,412069,ORPHA:412069,45,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:24791903, PMID:29696776, PMID:30152016]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000476,Cystic hygroma,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000586,Shallow orbits,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000587,Abnormality of the optic nerve,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000589,Coloboma,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000637,Long palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000689,Dental malocclusion,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001548,Overgrowth,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0001954,Recurrent fever,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002046,Heat intolerance,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002263,Exaggerated cupid's bow,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002282,Gray matter heterotopia,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002572,Episodic vomiting,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002579,Gastrointestinal dysmotility,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002711,Exaggerated median tongue furrow,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0002877,Nocturnal hypoventilation,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0003388,Easy fatigability,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0003763,Bruxism,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0004389,Intestinal pseudo-obstruction,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0004442,Sagittal craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0004443,Lambdoidal craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0004467,Preauricular pit,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0006481,Abnormality of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0007655,Eversion of lateral third of lower eyelids,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0009794,Branchial anomaly,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0009804,Tooth agenesis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0010297,Bifid tongue,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0010807,Open bite,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0010880,Increased nuchal translucency,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0011147,Typical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0011330,Metopic synostosis,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0011807,Type 1 muscle fiber atrophy,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013418,Orphanet,453504,ORPHA:453504,90,HP:0100259,Postaxial polydactyly,Occasional (29-5%),TAS,,,,"[PMID:29904177, PMID:30998304]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0000605,Supranuclear gaze palsy,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0001657,Prolonged QT interval,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0002151,Increased serum lactate,Very frequent (99-80%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0002173,Hypoglycemic seizures,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0002283,Global brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0002311,Incoordination,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0002579,Gastrointestinal dysmotility,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0002919,Ketonuria,Very frequent (99-80%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0003115,Abnormal EKG,Very frequent (99-80%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0003458,EMG: myopathic abnormalities,Very frequent (99-80%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0008223,Compensated hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0008942,Acute rhabdomyolysis,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0010818,Generalized tonic seizure,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0011343,Moderate global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0031165,Multifocal seizures,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0045045,Elevated circulating acylcarnitine concentration,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013423,Orphanet,480864,ORPHA:480864,51,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:26805781, PMID:26805782, PMID:29369572, PMID:30245509, PMID:31339582]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0002828,Multiple joint contractures,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0003739,Myoclonic spasms,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0005484,Secondary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0006808,Cerebral hypomyelination,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0012167,Hair-pulling,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0012444,Brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013425,Orphanet,447997,ORPHA:447997,34,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:26041762, PMID:27161889, PMID:29989513, PMID:31763347]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0000193,Bifid uvula,Very rare (<4-1%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0000307,Pointed chin,Very rare (<4-1%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0000824,Decreased response to growth hormone stimulation test,Very rare (<4-1%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0000826,Precocious puberty,Very frequent (99-80%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0001988,Recurrent hypoglycemia,Very rare (<4-1%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0002007,Frontal bossing,Very rare (<4-1%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0002591,Polyphagia,Occasional (29-5%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0004209,Clinodactyly of the 5th finger,Very rare (<4-1%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0004482,Relative macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0007429,Few cafe-au-lait spots,Very rare (<4-1%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0040288,Nasogastric tube feeding,Frequent (79-30%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013431,Orphanet,254516,ORPHA:254516,28,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,"[PMID:1681108, PMID:24891339, PMID:26862943]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0000105,Enlarged kidney,Very rare (<4-1%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0000464,Abnormality of the neck,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0000782,Abnormal scapula morphology,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0001698,Pericardial effusion,Frequent (79-30%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0001737,Pancreatic cysts,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0001903,Anemia,Very rare (<4-1%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0002086,Abnormality of the respiratory system,Frequent (79-30%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0002088,Abnormal lung morphology,Very frequent (99-80%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0002105,Hemoptysis,Very rare (<4-1%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0002202,Pleural effusion,Very frequent (99-80%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0002693,Abnormality of the skull base,Very rare (<4-1%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0002797,Osteolysis,Frequent (79-30%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0002823,Abnormality of femur morphology,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0003084,Fractures of the long bones,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0003174,Abnormality of the ischium,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0003319,Abnormality of the cervical spine,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0003546,Exercise intolerance,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0005107,Abnormal sacrum morphology,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0011842,Abnormal skeletal morphology,Frequent (79-30%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0011896,Subconjunctival hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0011900,Hypofibrinogenemia,Frequent (79-30%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0012740,Papilloma,Very rare (<4-1%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0025408,Abnormal spleen morphology,Frequent (79-30%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0031095,Abnormal humerus morphology,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0031364,Ecchymosis,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0040163,Abnormal pelvis bone morphology,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0045026,Abnormality of the mediastinum,Very frequent (99-80%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0100310,Epidural hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0100608,Metrorrhagia,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0100711,Abnormal thoracic spine morphology,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0100763,Abnormality of the lymphatic system,Very frequent (99-80%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0100764,Lymphangioma,Occasional (29-5%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013451,Orphanet,464329,ORPHA:464329,46,HP:0100766,Abnormal lymphatic vessel morphology,Very frequent (99-80%),TAS,,,,"[PMID:24252784, PMID:27053281, PMID:28398067]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0000720,Mood swings,Frequent (79-30%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0000817,Poor eye contact,Very frequent (99-80%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0002317,Unsteady gait,Occasional (29-5%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0010832,Abnormality of pain sensation,Frequent (79-30%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013474,Orphanet,468620,ORPHA:468620,30,HP:0410263,Brain imaging abnormality,Very frequent (99-80%),TAS,,,,"[PMID:26048982, PMID:30923367]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000327,Hypoplasia of the maxilla,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000529,Progressive visual loss,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000891,Cervical ribs,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0000902,Rib fusion,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0001027,"Soft, doughy skin",Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0001249,Intellectual disability,Obligate (100%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002097,Emphysema,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002140,Ischemic stroke,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002212,Curly hair,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002283,Global brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002538,Abnormal cerebral cortex morphology,Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002579,Gastrointestinal dysmotility,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002937,Hemivertebrae,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0003100,Slender long bone,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0003508,Proportionate short stature,Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0004315,Decreased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0004433,Secretory IgA deficiency,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0004442,Sagittal craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0004482,Relative macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0005639,Hyperextensible hand joints,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0006970,Periventricular leukomalacia,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0006989,Dysplastic corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0007100,Progressive ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0007933,Broad lateral eyebrow,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0008765,Auditory hallucinations,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0009777,Absent thumb,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0009879,Simplified gyral pattern,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0010485,Hyperextensibility at elbow,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0011330,Metopic synostosis,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0011467,Absent gallbladder,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0011648,Patent ductus arteriosus after birth at term,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0011819,Submucous cleft soft palate,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0012443,Abnormality of brain morphology,Very frequent (99-80%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0012582,Bilateral renal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0025116,Fetal distress,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0030707,Unilateral lung agenesis,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0100307,Cerebellar hemisphere hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0100702,Arachnoid cyst,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013489,Orphanet,500150,ORPHA:500150,105,HP:0430021,Abnormal common carotid artery morphology,Occasional (29-5%),TAS,,,,"[PMID:25590979, PMID:27256762, PMID:27545676, PMID:27545680]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000047,Hypospadias,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000054,Micropenis,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000107,Renal cyst,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000122,Unilateral renal agenesis,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000125,Pelvic kidney,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000126,Hydronephrosis,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000767,Pectus excavatum,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0000964,Eczema,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001562,Oligohydramnios,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001650,Aortic valve stenosis,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001822,Hallux valgus,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002021,Pyloric stenosis,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002247,Duodenal atresia,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002280,Enlarged cisterna magna,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002365,Hypoplasia of the brainstem,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Frequent (79-30%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002808,Kyphosis,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0002828,Multiple joint contractures,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0003086,Acromesomelia,Very frequent (99-80%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0003187,Breast hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0003319,Abnormality of the cervical spine,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0004322,Short stature,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0010219,Structural foot deformity,Very rare (<4-1%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0010442,Polydactyly,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0010627,Anterior pituitary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0011832,Narrow nasal tip,Occasional (29-5%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013527,Orphanet,464306,ORPHA:464306,73,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:18405873, PMID:21294719, PMID:23099646, PMID:26677511, PMID:26922654]",y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0000294,Low anterior hairline,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0000311,Round face,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0000338,Hypomimic face,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0000475,Broad neck,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0002871,Central apnea,Occasional (29-5%),TAS,,,,[PMID:23176824],y,y +GARD:0013568,Orphanet,320385,ORPHA:320385,23,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:23176824],y,y +GARD:0013588,Orphanet,99748,ORPHA:99748,5,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013588,Orphanet,99748,ORPHA:99748,5,HP:0002315,Headache,Frequent (79-30%),TAS,,,,,y,y +GARD:0013588,Orphanet,99748,ORPHA:99748,5,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013588,Orphanet,99748,ORPHA:99748,5,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013588,Orphanet,99748,ORPHA:99748,5,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0000338,Hypomimic face,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0000496,Abnormality of eye movement,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0001285,Spastic tetraparesis,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0001300,Parkinsonism,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0001337,Tremor,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0001611,Nasal speech,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0002075,Dysdiadochokinesis,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0002310,Orofacial dyskinesia,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0002362,Shuffling gait,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0002421,Poor head control,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0002451,Limb dystonia,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0002597,Abnormality of the vasculature,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0005484,Secondary microcephaly,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0008936,Axial hypotonia,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0010307,Stridor,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0010553,Oculogyric crisis,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0011443,Abnormality of coordination,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0030215,Inappropriate crying,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013594,Orphanet,352649,ORPHA:352649,31,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,[PMID:23363473],y,y +GARD:0013606,Orphanet,48377,ORPHA:48377,11,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0013606,Orphanet,48377,ORPHA:48377,11,HP:0000836,Hyperthyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0013606,Orphanet,48377,ORPHA:48377,11,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013606,Orphanet,48377,ORPHA:48377,11,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0013606,Orphanet,48377,ORPHA:48377,11,HP:0001370,Rheumatoid arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0013606,Orphanet,48377,ORPHA:48377,11,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0013606,Orphanet,48377,ORPHA:48377,11,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,,y,y +GARD:0013606,Orphanet,48377,ORPHA:48377,11,HP:0006775,Multiple myeloma,Occasional (29-5%),TAS,,,,,y,y +GARD:0013606,Orphanet,48377,ORPHA:48377,11,HP:0010702,Increased circulating antibody level,Occasional (29-5%),TAS,,,,,y,y +GARD:0013606,Orphanet,48377,ORPHA:48377,11,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013606,Orphanet,48377,ORPHA:48377,11,HP:0200039,Pustule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0001019,Erythroderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0001695,Cardiac arrest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0001970,Tubulointerstitial nephritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0002113,Pulmonary infiltrates,Frequent (79-30%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0002383,Infectious encephalitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0006515,Interstitial pneumonitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0006554,Acute hepatic failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0012735,Cough,Occasional (29-5%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0030249,Enanthema,Occasional (29-5%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0100326,Immunologic hypersensitivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0100646,Thyroiditis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0100665,Angioedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0100827,Lymphocytosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0013629,Orphanet,139402,ORPHA:139402,28,HP:0200039,Pustule,Occasional (29-5%),TAS,,,,,y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0000047,Hypospadias,Very rare (<4-1%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0000331,Short chin,Very rare (<4-1%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0000494,Downslanted palpebral fissures,Very rare (<4-1%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001028,Hemangioma,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001355,Megalencephaly,Very frequent (99-80%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001538,Protuberant abdomen,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001540,Diastasis recti,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001998,Neonatal hypoglycemia,Very rare (<4-1%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0002212,Curly hair,Frequent (79-30%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0002720,Decreased circulating IgA level,Very rare (<4-1%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0004789,Lactose intolerance,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0005257,Thoracic hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0005266,Intestinal polyp,Very rare (<4-1%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0005280,Depressed nasal bridge,Very rare (<4-1%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0012393,Allergy,Very rare (<4-1%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013636,Orphanet,457485,ORPHA:457485,45,HP:0025104,Capillary malformation,Occasional (29-5%),TAS,,,,"[PMID:25851998, PMID:26542245, PMID:27753196, PMID:27830187, PMID:28892148]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000453,Choanal atresia,Frequent (79-30%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000454,Flared nostrils,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000692,Tooth malposition,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0000998,Hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001238,Slender finger,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001305,Dandy-Walker malformation,Frequent (79-30%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0002198,Dilated fourth ventricle,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0002212,Curly hair,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0002365,Hypoplasia of the brainstem,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0002536,Abnormal cortical gyration,Frequent (79-30%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0002557,Hypoplastic nipples,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0002944,Thoracolumbar scoliosis,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0004095,Curved fingers,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0004298,Abnormality of the abdominal wall,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0005272,Prominent nasolabial fold,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0005722,Hyperextensible thumb,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0007483,Depigmentation/hyperpigmentation of skin,Frequent (79-30%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0010499,Patellar subluxation,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0012745,Short palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0012810,Wide nasal base,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0030925,5-minute APGAR score of 5,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0030928,1-minute APGAR score of 1,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0031508,Abnormal thyroid hormone level,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0100259,Postaxial polydactyly,Frequent (79-30%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0100890,Cyst of the ductus choledochus,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0200117,Recurrent upper and lower respiratory tract infections,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013638,Orphanet,480880,ORPHA:480880,90,HP:0410026,Abnormal periodontium morphology,Occasional (29-5%),TAS,,,,"[PMID:24690944, PMID:26833328, PMID:28377321, PMID:30828969]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0000868,Decreased fertility in females,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0000869,Secondary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0000876,Oligomenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001399,Hepatic failure,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001541,Ascites,Very rare (<4-1%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001928,Abnormality of coagulation,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0002311,Incoordination,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0002345,Action tremor,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0003251,Male infertility,Very frequent (99-80%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0006977,Grammar-specific speech disorder,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0008209,Premature ovarian insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0011446,Abnormality of higher mental function,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0012537,Food intolerance,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0020110,Bone fracture,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0030272,Abnormal erythrocyte enzyme level,Very frequent (99-80%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0030353,Decreased serum insulin-like growth factor 1,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0100512,Low levels of vitamin D,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013639,Orphanet,79239,ORPHA:79239,54,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:31029175]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0001028,Hemangioma,Frequent (79-30%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0001342,Cerebral hemorrhage,Very frequent (99-80%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0002516,Increased intracranial pressure,Frequent (79-30%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0002572,Episodic vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0002858,Meningioma,Frequent (79-30%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0007872,Choroidal hemangioma,Occasional (29-5%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0011276,Vascular skin abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0011513,Retinal cavernous angioma,Occasional (29-5%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0012721,Venous malformation,Occasional (29-5%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0012748,Focal T2 hyperintense brainstem lesion,Frequent (79-30%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0012749,Focal T2 hypointense brainstem lesion,Frequent (79-30%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0030430,Neuroma,Frequent (79-30%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013641,Orphanet,221061,ORPHA:221061,17,HP:0100561,Spinal cord lesion,Occasional (29-5%),TAS,,,,"[PMID:20301470, PMID:24265337]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000039,Epispadias,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000180,Lobulated tongue,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000191,Accessory oral frenulum,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000243,Trigonocephaly,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000308,Microretrognathia,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000480,Retinal coloboma,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0001305,Dandy-Walker malformation,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0001338,Partial agenesis of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0001830,Postaxial foot polydactyly,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0002198,Dilated fourth ventricle,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0002419,Molar tooth sign on MRI,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0007082,Dilated third ventricle,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0007165,Periventricular heterotopia,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0008689,Bilateral cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0008753,Aplasia of the epiglottis,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0010051,Deviation of the hallux,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0010055,Broad hallux,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0010066,Duplication of phalanx of hallux,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0010297,Bifid tongue,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0010535,Sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0011069,Supernumerary tooth,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0011471,Gastrostomy tube feeding in infancy,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0011802,Hamartoma of tongue,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0012447,Abnormal myelination,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013655,Orphanet,434179,ORPHA:434179,42,HP:0100954,Open operculum,Frequent (79-30%),TAS,,,,"[PMID:24997988, PMID:30097616]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0002059,Cerebral atrophy,Very frequent (99-80%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0002071,Abnormality of extrapyramidal motor function,Very frequent (99-80%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0002357,Dysphasia,Frequent (79-30%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0002509,Limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0030890,Hyperintensity of cerebral white matter on MRI,Very frequent (99-80%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013658,Orphanet,500180,ORPHA:500180,33,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:28777933, PMID:29300972, PMID:30517966, PMID:31931739]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0000308,Microretrognathia,Occasional (29-5%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0001620,High pitched voice,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0001667,Right ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0001708,Right ventricular failure,Occasional (29-5%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0002877,Nocturnal hypoventilation,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0003306,Spinal rigidity,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0003327,Axial muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0003700,Generalized amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0003741,Congenital muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0004889,Intermittent episodes of respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0005991,Limited neck flexion,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0009058,Increased muscle lipid content,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0030091,Absent muscle fiber merosin,Excluded (0%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0030319,Weakness of facial musculature,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013661,Orphanet,324604,ORPHA:324604,29,HP:0100295,Muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:10665485, PMID:11079538, PMID:15668457, PMID:7224095]",y,y +GARD:0013712,Orphanet,231154,ORPHA:231154,10,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013712,Orphanet,231154,ORPHA:231154,10,HP:0001890,Autoimmune hemolytic anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0013712,Orphanet,231154,ORPHA:231154,10,HP:0001904,Neutropenia in presence of anti-neutropil antibodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0013712,Orphanet,231154,ORPHA:231154,10,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013712,Orphanet,231154,ORPHA:231154,10,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,,y,y +GARD:0013712,Orphanet,231154,ORPHA:231154,10,HP:0004430,Severe combined immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013712,Orphanet,231154,ORPHA:231154,10,HP:0005403,T lymphocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013712,Orphanet,231154,ORPHA:231154,10,HP:0006515,Interstitial pneumonitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013712,Orphanet,231154,ORPHA:231154,10,HP:0010976,B lymphocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013712,Orphanet,231154,ORPHA:231154,10,HP:0100806,Sepsis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000023,Inguinal hernia,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000081,Duplicated collecting system,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000218,High palate,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000272,Malar flattening,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000297,Facial hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000307,Pointed chin,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000322,Short philtrum,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000356,Abnormality of the outer ear,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000358,Posteriorly rotated ears,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000455,Broad nasal tip,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000470,Short neck,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000612,Iris coloboma,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000722,Obsessive-compulsive behavior,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0000776,Congenital diaphragmatic hernia,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0001045,Vitiligo,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0001272,Cerebellar atrophy,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0001388,Joint laxity,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0002079,Hypoplasia of the corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0002120,Cerebral cortical atrophy,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0002188,Delayed CNS myelination,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0002280,Enlarged cisterna magna,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0002311,Incoordination,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0002384,Focal impaired awareness seizure,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0002714,Downturned corners of mouth,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0002870,Obstructive sleep apnea,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0002933,Ventral hernia,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0005280,Depressed nasal bridge,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0006863,Severe expressive language delay,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0011024,Abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0012110,Hypoplasia of the pons,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0012157,Subcortical cerebral atrophy,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0012448,Delayed myelination,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0012450,Chronic constipation,Occasional (29-5%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013774,Orphanet,468678,ORPHA:468678,72,HP:0100716,Self-injurious behavior,Very rare (<4-1%),TAS,,,,"[PMID:25533962, PMID:26739615, PMID:26942287, PMID:30136090]",y,y +GARD:0013781,Orphanet,250977,ORPHA:250977,10,HP:0000063,Fused labia minora,Very frequent (99-80%),TAS,,,,[PMID:15114530],y,y +GARD:0013781,Orphanet,250977,ORPHA:250977,10,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,[PMID:15114530],y,y +GARD:0013781,Orphanet,250977,ORPHA:250977,10,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,[PMID:15114530],y,y +GARD:0013781,Orphanet,250977,ORPHA:250977,10,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,[PMID:15114530],y,y +GARD:0013781,Orphanet,250977,ORPHA:250977,10,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:15114530],y,y +GARD:0013781,Orphanet,250977,ORPHA:250977,10,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:15114530],y,y +GARD:0013781,Orphanet,250977,ORPHA:250977,10,HP:0007875,Congenital blindness,Very frequent (99-80%),TAS,,,,[PMID:15114530],y,y +GARD:0013781,Orphanet,250977,ORPHA:250977,10,HP:0008665,Clitoral hypertrophy,Very frequent (99-80%),TAS,,,,[PMID:15114530],y,y +GARD:0013781,Orphanet,250977,ORPHA:250977,10,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:15114530],y,y +GARD:0013781,Orphanet,250977,ORPHA:250977,10,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,[PMID:15114530],y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000098,Tall stature,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000300,Oval face,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000307,Pointed chin,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0002131,Episodic ataxia,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0002365,Hypoplasia of the brainstem,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0003100,Slender long bone,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0007766,Optic disc hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0013811,Orphanet,420179,ORPHA:420179,38,HP:0030799,Scaphocephaly,Occasional (29-5%),TAS,,,,"[PMID:20673863, PMID:25118028, PMID:26193383]",y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0000294,Low anterior hairline,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0000320,Bird-like facies,Very frequent (99-80%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0001876,Pancytopenia,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0002488,Acute leukemia,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0002665,Lymphoma,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0003220,Abnormality of chromosome stability,Very frequent (99-80%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0003683,Large beaked nose,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0004430,Severe combined immunodeficiency,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0005561,Abnormality of bone marrow cell morphology,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,[PMID:16088910],y,y +GARD:0015000,Orphanet,99812,ORPHA:99812,35,HP:0100585,Telangiectasia of the skin,Occasional (29-5%),TAS,,,,[PMID:16088910],y,y +GARD:0015004,Orphanet,306550,ORPHA:306550,8,HP:0001250,Seizure,Obligate (100%),TAS,,,,[PMID:21109225],y,y +GARD:0015004,Orphanet,306550,ORPHA:306550,8,HP:0001298,Encephalopathy,Obligate (100%),TAS,,,,[PMID:21109225],y,y +GARD:0015004,Orphanet,306550,ORPHA:306550,8,HP:0001395,Hepatic fibrosis,Frequent (79-30%),TAS,,,,[PMID:21109225],y,y +GARD:0015004,Orphanet,306550,ORPHA:306550,8,HP:0001410,Decreased liver function,Obligate (100%),TAS,,,,[PMID:21109225],y,y +GARD:0015004,Orphanet,306550,ORPHA:306550,8,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:21109225],y,y +GARD:0015004,Orphanet,306550,ORPHA:306550,8,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,[PMID:21109225],y,y +GARD:0015004,Orphanet,306550,ORPHA:306550,8,HP:0004935,Pulmonary artery atresia,Occasional (29-5%),TAS,,,,[PMID:21109225],y,y +GARD:0015004,Orphanet,306550,ORPHA:306550,8,HP:0030057,Autoimmune antibody positivity,Occasional (29-5%),TAS,,,,[PMID:21109225],y,y +GARD:0015010,Orphanet,145,ORPHA:145,7,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,[PMID:20301425],y,y +GARD:0015010,Orphanet,145,ORPHA:145,7,HP:0002894,Neoplasm of the pancreas,Occasional (29-5%),TAS,,,,[PMID:20301425],y,y +GARD:0015010,Orphanet,145,ORPHA:145,7,HP:0003002,Breast carcinoma,Frequent (79-30%),TAS,,,,[PMID:20301425],y,y +GARD:0015010,Orphanet,145,ORPHA:145,7,HP:0011027,Abnormal fallopian tube morphology,Very frequent (99-80%),TAS,,,,[PMID:20301425],y,y +GARD:0015010,Orphanet,145,ORPHA:145,7,HP:0012125,Prostate cancer,Occasional (29-5%),TAS,,,,[PMID:20301425],y,y +GARD:0015010,Orphanet,145,ORPHA:145,7,HP:0030406,Primary peritoneal carcinoma,Very frequent (99-80%),TAS,,,,[PMID:20301425],y,y +GARD:0015010,Orphanet,145,ORPHA:145,7,HP:0100615,Ovarian neoplasm,Very frequent (99-80%),TAS,,,,[PMID:20301425],y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0000388,Otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0000649,Abnormality of visual evoked potentials,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0001337,Tremor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0001641,Abnormal pulmonary valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0002148,Hypophosphatemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0002257,Chronic rhinitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0004370,Abnormality of temperature regulation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0004415,Pulmonary artery stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0006323,Premature loss of primary teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0007807,Optic nerve compression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0010543,Opsoclonus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0010719,Abnormality of hair texture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0011002,Osteopetrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015012,Orphanet,667,ORPHA:667,43,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015013,Orphanet,1522,ORPHA:1522,13,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015013,Orphanet,1522,ORPHA:1522,13,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0015013,Orphanet,1522,ORPHA:1522,13,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0015013,Orphanet,1522,ORPHA:1522,13,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015013,Orphanet,1522,ORPHA:1522,13,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0015013,Orphanet,1522,ORPHA:1522,13,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0015013,Orphanet,1522,ORPHA:1522,13,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015013,Orphanet,1522,ORPHA:1522,13,HP:0001291,Abnormal cranial nerve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0015013,Orphanet,1522,ORPHA:1522,13,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0015013,Orphanet,1522,ORPHA:1522,13,HP:0004493,Craniofacial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015013,Orphanet,1522,ORPHA:1522,13,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015013,Orphanet,1522,ORPHA:1522,13,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,,y,y +GARD:0015013,Orphanet,1522,ORPHA:1522,13,HP:0011002,Osteopetrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0000016,Urinary retention,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0000290,Abnormality of the forehead,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0000651,Diplopia,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0001943,Hypoglycemia,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0001988,Recurrent hypoglycemia,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0002019,Constipation,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0002585,Abnormality of the peritoneum,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0002896,Neoplasm of the liver,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0003419,Low back pain,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0004375,Neoplasm of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0004912,Hypophosphatemic rickets,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0007185,Loss of consciousness,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0008775,Abnormal prostate morphology,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0010784,Uterine neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0010787,Genital neoplasm,Occasional (29-5%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0012125,Prostate cancer,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0030166,Night sweats,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0030795,Reduced C-peptide level,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0031459,Soft tissue neoplasm,Occasional (29-5%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0031501,Pelvic mass,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0040216,Hypoinsulinemia,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0045026,Abnormality of the mediastinum,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0100526,Neoplasm of the lung,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0100527,Neoplasia of the pleura,Occasional (29-5%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015014,Orphanet,2126,ORPHA:2126,29,HP:0100650,Vaginal neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:26746203, PMID:27562490, PMID:28687087, PMID:29257041, PMID:30923297, PMID:30957324, PMID:31020464]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0000539,Abnormality of refraction,Very frequent (99-80%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0000551,Color vision defect,Very frequent (99-80%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0000603,Central scotoma,Frequent (79-30%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0001103,Abnormal macular morphology,Occasional (29-5%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0007695,Abnormal pupillary light reflex,Occasional (29-5%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0007722,Retinal pigment epithelial atrophy,Very rare (<4-1%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0007750,Hypoplasia of the fovea,Frequent (79-30%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0007803,Monochromacy,Very frequent (99-80%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0007814,Retinal pigment epithelial mottling,Occasional (29-5%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0007843,Attenuation of retinal blood vessels,Occasional (29-5%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0012043,Pendular nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0025549,Eccentric visual fixation,Occasional (29-5%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0030465,Undetectable light-adapted electroretinogram,Very frequent (99-80%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0030584,Color vision test abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0030620,Inner retinal layer loss on macular OCT,Very frequent (99-80%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015015,Orphanet,49382,ORPHA:49382,20,HP:0030825,Absent foveal reflex,Frequent (79-30%),TAS,,,,"[PMID:20301591, PMID:25637600, PMID:29303385]",y,y +GARD:0015016,Orphanet,50942,ORPHA:50942,3,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015016,Orphanet,50942,ORPHA:50942,3,HP:0001595,Abnormal hair morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0015016,Orphanet,50942,ORPHA:50942,3,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0000653,Sparse eyelashes,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0001808,Fragile nails,Frequent (79-30%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0001820,Leukonychia,Frequent (79-30%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Frequent (79-30%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0010579,Cone-shaped epiphysis,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0010743,Short metatarsal,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0011069,Supernumerary tooth,Frequent (79-30%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0011341,Long upper lip,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0011910,Shortening of all phalanges of fingers,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015017,Orphanet,77258,ORPHA:77258,29,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,"[PMID:25628322, PMID:7790499]",y,y +GARD:0015019,Orphanet,84090,ORPHA:84090,10,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,[PMID:10074583],y,y +GARD:0015019,Orphanet,84090,ORPHA:84090,10,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,[PMID:10074583],y,y +GARD:0015019,Orphanet,84090,ORPHA:84090,10,HP:0000100,Nephrotic syndrome,Very frequent (99-80%),TAS,,,,[PMID:10074583],y,y +GARD:0015019,Orphanet,84090,ORPHA:84090,10,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,[PMID:10074583],y,y +GARD:0015019,Orphanet,84090,ORPHA:84090,10,HP:0001342,Cerebral hemorrhage,Occasional (29-5%),TAS,,,,[PMID:10074583],y,y +GARD:0015019,Orphanet,84090,ORPHA:84090,10,HP:0001966,Abnormal glomerular mesangium morphology,Very frequent (99-80%),TAS,,,,[PMID:10074583],y,y +GARD:0015019,Orphanet,84090,ORPHA:84090,10,HP:0002907,Microscopic hematuria,Very frequent (99-80%),TAS,,,,[PMID:10074583],y,y +GARD:0015019,Orphanet,84090,ORPHA:84090,10,HP:0003073,Hypoalbuminemia,Very frequent (99-80%),TAS,,,,[PMID:10074583],y,y +GARD:0015019,Orphanet,84090,ORPHA:84090,10,HP:0010741,Pedal edema,Very frequent (99-80%),TAS,,,,[PMID:10074583],y,y +GARD:0015019,Orphanet,84090,ORPHA:84090,10,HP:0100820,Glomerulopathy,Very frequent (99-80%),TAS,,,,[PMID:10074583],y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0000141,Amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0000789,Infertility,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0000839,Pituitary dwarfism,Occasional (29-5%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0002920,Decreased circulating ACTH level,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0005625,Osteoporosis of vertebrae,Occasional (29-5%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0008187,Absence of secondary sex characteristics,Occasional (29-5%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0009888,Abnormality of secondary sexual hair,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0010311,Aplasia/Hypoplasia of the breasts,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0010627,Anterior pituitary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0011755,Ectopic posterior pituitary,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0012731,Ectopic anterior pituitary gland,Very rare (<4-1%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0040075,Hypopituitarism,Obligate (100%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015020,Orphanet,90695,ORPHA:90695,27,HP:0040086,Abnormal prolactin level,Frequent (79-30%),TAS,,,,"[PMID:10835633, PMID:15800844, PMID:16735499, PMID:18728160, PMID:20685856, PMID:25955177, PMID:26733480, PMID:8768831, PMID:9462743]",y,y +GARD:0015021,Orphanet,95429,ORPHA:95429,4,HP:0007797,Retinal vascular malformation,Occasional (29-5%),TAS,,,,[PMID:17342156],y,y +GARD:0015021,Orphanet,95429,ORPHA:95429,4,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,[PMID:17342156],y,y +GARD:0015021,Orphanet,95429,ORPHA:95429,4,HP:0011276,Vascular skin abnormality,Very frequent (99-80%),TAS,,,,[PMID:17342156],y,y +GARD:0015021,Orphanet,95429,ORPHA:95429,4,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,[PMID:17342156],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0000597,Ophthalmoparesis,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0001446,Abnormality of the musculature of the upper limbs,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0002329,Drowsiness,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0002792,Reduced vital capacity,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0002875,Exertional dyspnea,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0003402,Decreased miniature endplate potentials,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0003403,EMG: decremental response of compound muscle action potential to repetitive nerve stimulation,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0003443,Decreased size of nerve terminals,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0003484,Upper limb muscle weakness,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0003547,Shoulder girdle muscle weakness,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0003722,Neck flexor weakness,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0003803,Type 1 muscle fiber predominance,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0005659,Thoracic kyphoscoliosis,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0009005,Weakness of the intrinsic hand muscles,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0009077,Weakness of long finger extensor muscles,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0012515,Hip flexor weakness,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0012764,Orthopnea,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0030196,Fatigable weakness of respiratory muscles,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0030199,Fatigable weakness of neck muscles,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0031108,Triceps weakness,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0031374,Ankle weakness,Occasional (29-5%),TAS,,,,[PMID:6287911],y,y +GARD:0015022,Orphanet,98913,ORPHA:98913,37,HP:0410011,Abnormality of masticatory muscle,Frequent (79-30%),TAS,,,,[PMID:6287911],y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0000308,Microretrognathia,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0000369,Low-set ears,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0000467,Neck muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0000565,Esotropia,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0000602,Ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0000651,Diplopia,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0000768,Pectus carinatum,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001265,Hyporeflexia,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001283,Bulbar palsy,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001374,Congenital hip dislocation,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001388,Joint laxity,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001561,Polyhydramnios,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001612,Weak cry,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0002020,Gastroesophageal reflux,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0002033,Poor suck,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0002392,EEG with polyspike wave complexes,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0002804,Arthrogryposis multiplex congenita,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0002870,Obstructive sleep apnea,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0002872,"Apneic episodes precipitated by illness, fatigue, stress",Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0002882,Sudden episodic apnea,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0003306,Spinal rigidity,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0003325,Limb-girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0003458,EMG: myopathic abnormalities,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0003473,Fatigable weakness,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0003693,Distal amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0003701,Proximal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0004661,Frontalis muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0004885,Episodic respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0004889,Intermittent episodes of respiratory insufficiency due to muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0005943,Respiratory arrest,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0007178,Motor polyneuropathy,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0008443,Spinal deformities,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0010307,Stridor,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0010536,Central sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0011469,Nasal regurgitation,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0012801,Narrow jaw,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0025401,Staring gaze,Very rare (<4-1%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0030208,Anti-acetylcholine receptor antibody positivity,Excluded (0%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0030842,Choking episodes,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0100285,EMG: impaired neuromuscular transmission,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015023,Orphanet,98914,ORPHA:98914,68,HP:0100295,Muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:11172068, PMID:15145336, PMID:18707767, PMID:19631309, PMID:22353287, PMID:25192047, PMID:25381298, PMID:26626625, PMID:27569547, PMID:27590285]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0001324,Muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0002812,Coxa vara,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0002815,Abnormality of the knee,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0002970,Genu varum,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0003028,Abnormality of the ankles,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0003045,Abnormal patella morphology,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0003198,Myopathy,Very rare (<4-1%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0003365,Arthralgia of the hip,Frequent (79-30%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0003946,Abnormality of the epiphyses of the elbow,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0003999,Abnormality of radial epiphyses,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0006055,Ulnar deviated club hands,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0006190,Radially deviated wrists,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0009189,Fragmentation of the metacarpal epiphyses,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0009826,Limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0010631,Abnormality of the epiphyses of the feet,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0010665,Bilateral coxa valga,Occasional (29-5%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0012770,Reduced arm span,Frequent (79-30%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0030839,Knee pain,Frequent (79-30%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015024,Orphanet,166002,ORPHA:166002,24,HP:0030973,Postexertional malaise,Frequent (79-30%),TAS,,,,"[PMID:16440132, PMID:20301302, PMID:20358595]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0001698,Pericardial effusion,Very rare (<4-1%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0001708,Right ventricular failure,Frequent (79-30%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0002105,Hemoptysis,Frequent (79-30%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0003493,Antinuclear antibody positivity,Excluded (0%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0004890,Elevated pulmonary artery pressure,Frequent (79-30%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0005954,Pulmonary capillary hemangiomatosis,Very frequent (99-80%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0012151,Hemothorax,Frequent (79-30%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0025104,Capillary malformation,Very frequent (99-80%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0025179,Ground-glass opacification,Very frequent (99-80%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0025180,Centrilobular ground-glass opacification on pulmonary HRCT,Frequent (79-30%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0025420,Diffuse alveolar hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0030879,Interlobular septal thickening,Very frequent (99-80%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0030968,Abnormal pulmonary vein morphology,Frequent (79-30%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0032230,Cytoplasmic antineutrophil antibody positivity,Excluded (0%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0045051,Decreased DLCO,Very frequent (99-80%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0100598,Pulmonary edema,Occasional (29-5%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0100721,Mediastinal lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015027,Orphanet,199241,ORPHA:199241,25,HP:0100759,Clubbing of fingers,Frequent (79-30%),TAS,,,,"[PMID:24292273, PMID:27514598, PMID:31501875]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0000504,Abnormality of vision,Very rare (<4-1%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0000546,Retinal degeneration,Very rare (<4-1%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001298,Encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0002133,Status epilepticus,Very rare (<4-1%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0002317,Unsteady gait,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0002509,Limb hypertonia,Very rare (<4-1%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0010844,EEG with multifocal slow activity,Frequent (79-30%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0011443,Abnormality of coordination,Frequent (79-30%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0012447,Abnormal myelination,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0012547,Abnormal involuntary eye movements,Very rare (<4-1%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015028,Orphanet,442835,ORPHA:442835,48,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:22365152, PMID:23647072, PMID:23932106, PMID:23991336, PMID:24399846, PMID:24747641, PMID:24995870, PMID:25164438, PMID:25223753, PMID:25262651, PMID:25411445, PMID:25751627, PMID:25817015, PMID:26173968, PMID:26235277, PMID:27164707, PMID:27435091, PMID:27545674, PMID:27545681, PMID:27605359, PMID:27866705, PMID:28364549, PMID:28777935]",y,y +GARD:0015255,Orphanet,172,ORPHA:172,14,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015255,Orphanet,172,ORPHA:172,14,HP:0001396,Cholestasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015255,Orphanet,172,ORPHA:172,14,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015255,Orphanet,172,ORPHA:172,14,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015255,Orphanet,172,ORPHA:172,14,HP:0001872,Abnormality of thrombocytes,Frequent (79-30%),TAS,,,,,y,y +GARD:0015255,Orphanet,172,ORPHA:172,14,HP:0001928,Abnormality of coagulation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015255,Orphanet,172,ORPHA:172,14,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015255,Orphanet,172,ORPHA:172,14,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015255,Orphanet,172,ORPHA:172,14,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0015255,Orphanet,172,ORPHA:172,14,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0015255,Orphanet,172,ORPHA:172,14,HP:0002901,Hypocalcemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0015255,Orphanet,172,ORPHA:172,14,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0015255,Orphanet,172,ORPHA:172,14,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,,y,y +GARD:0015255,Orphanet,172,ORPHA:172,14,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0000590,Progressive external ophthalmoplegia,Very frequent (99-80%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0000651,Diplopia,Excluded (0%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0000716,Depression,Occasional (29-5%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0000821,Hypothyroidism,Frequent (79-30%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0003200,Ragged-red muscle fibers,Frequent (79-30%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0003327,Axial muscle weakness,Frequent (79-30%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0003800,Muscle abnormality related to mitochondrial dysfunction,Very frequent (99-80%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0008316,Abnormal mitochondria in muscle tissue,Frequent (79-30%),TAS,,,,[PMID:22189266],y,y +GARD:0016479,Orphanet,663,ORPHA:663,17,HP:0009073,Progressive proximal muscle weakness,Frequent (79-30%),TAS,,,,[PMID:22189266],y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0000533,Chorioretinal atrophy,Occasional (29-5%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0000610,Abnormal choroid morphology,Frequent (79-30%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0000662,Nyctalopia,Frequent (79-30%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0001105,Retinal atrophy,Occasional (29-5%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0001129,Large central visual field defect,Frequent (79-30%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0001141,Severely reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0007722,Retinal pigment epithelial atrophy,Occasional (29-5%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0007754,Macular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0011506,Choroidal neovascularization,Frequent (79-30%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0030491,Choriocapillaris atrophy,Frequent (79-30%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0030500,Yellow/white lesions of the macula,Very frequent (99-80%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0030602,Abnormal fundus autofluorescence imaging,Frequent (79-30%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0030625,Hyporeflective spaces on macular OCT,Frequent (79-30%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016480,Orphanet,59181,ORPHA:59181,17,HP:0031528,Subretinal deposits,Very frequent (99-80%),TAS,,,,"[PMID:26077580, PMID:30298528, PMID:30578493, PMID:31704701]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000017,Nocturia,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000338,Hypomimic face,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000544,External ophthalmoplegia,Very frequent (99-80%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000597,Ophthalmoparesis,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000602,Ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000819,Diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000836,Hyperthyroidism,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000853,Goiter,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000939,Osteoporosis,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0000969,Edema,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001276,Hypertonia,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001392,Abnormality of the liver,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001946,Ketosis,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001952,Glucose intolerance,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0001962,Palpitations,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002076,Migraine,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002151,Increased serum lactate,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002322,Resting tremor,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002375,Hypokinesia,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002396,Cogwheel rigidity,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002875,Exertional dyspnea,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0002910,Elevated hepatic transaminase,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003200,Ragged-red muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003388,Easy fatigability,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003394,Muscle spasm,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003438,Absent Achilles reflex,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003547,Shoulder girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003551,Difficulty climbing stairs,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003688,Cytochrome C oxidase-negative muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003690,Limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003731,Quadriceps muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0003737,Mitochondrial myopathy,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0004308,Ventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0005110,Atrial fibrillation,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0007042,Focal white matter lesions,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0007302,Bipolar affective disorder,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0012103,Abnormality of the mitochondrion,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0012664,Reduced ejection fraction,Occasional (29-5%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016486,Orphanet,254892,ORPHA:254892,81,HP:0100704,Cerebral visual impairment,Very rare (<4-1%),TAS,,,,"[PMID:10364542, PMID:15258213, PMID:16685652, PMID:19664747, PMID:1978558, PMID:20479361, PMID:21555342, PMID:24076137, PMID:24091712, PMID:7365499]",y,y +GARD:0016523,Orphanet,364,ORPHA:364,11,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016523,Orphanet,364,ORPHA:364,11,HP:0000991,Xanthomatosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016523,Orphanet,364,ORPHA:364,11,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016523,Orphanet,364,ORPHA:364,11,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016523,Orphanet,364,ORPHA:364,11,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016523,Orphanet,364,ORPHA:364,11,HP:0002149,Hyperuricemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016523,Orphanet,364,ORPHA:364,11,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016523,Orphanet,364,ORPHA:364,11,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016523,Orphanet,364,ORPHA:364,11,HP:0003077,Hyperlipidemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016523,Orphanet,364,ORPHA:364,11,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016523,Orphanet,364,ORPHA:364,11,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0000215,Thick upper lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0000294,Low anterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0000437,Depressed nasal tip,Frequent (79-30%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0000561,Absent eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0001057,Aplasia cutis congenita,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0001075,Atrophic scars,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0005338,Sparse lateral eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0005585,Spotty hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0005590,Spotty hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0009743,Distichiasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0010781,Skin dimple,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016524,Orphanet,79133,ORPHA:79133,17,HP:0011221,Vertical forehead creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016526,Orphanet,205,ORPHA:205,11,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0016526,Orphanet,205,ORPHA:205,11,HP:0000597,Ophthalmoparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016526,Orphanet,205,ORPHA:205,11,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016526,Orphanet,205,ORPHA:205,11,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0016526,Orphanet,205,ORPHA:205,11,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016526,Orphanet,205,ORPHA:205,11,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016526,Orphanet,205,ORPHA:205,11,HP:0001392,Abnormality of the liver,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016526,Orphanet,205,ORPHA:205,11,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,,y,y +GARD:0016526,Orphanet,205,ORPHA:205,11,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0016526,Orphanet,205,ORPHA:205,11,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016526,Orphanet,205,ORPHA:205,11,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0000035,Abnormal testis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0001034,Hypermelanotic macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0001595,Abnormal hair morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0005588,Patchy palmoplantar hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0007400,Irregular hyperpigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016528,Orphanet,317,ORPHA:317,29,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0002665,Lymphoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0005374,Cellular immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0016529,Orphanet,391,ORPHA:391,24,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0000121,Nephrocalcinosis,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0000488,Retinopathy,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0000543,Optic disc pallor,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0000965,Cutis marmorata,Very rare (<4-1%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0001063,Acrocyanosis,Occasional (29-5%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0001638,Cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0002150,Hypercalciuria,Occasional (29-5%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0003159,Hyperoxaluria,Very frequent (99-80%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0004417,Intermittent claudication,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0005789,Generalized osteosclerosis,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0006479,Abnormal dental pulp morphology,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0008672,Calcium oxalate nephrolithiasis,Very frequent (99-80%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0011072,Rootless teeth,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0011506,Choroidal neovascularization,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0012072,Aciduria,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0012722,Heart block,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0025324,Arterial occlusion,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0025520,Calcinosis cutis,Very rare (<4-1%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0030880,Raynaud phenomenon,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0031981,Elevated urine glycolate,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016530,Orphanet,416,ORPHA:416,33,HP:0100758,Gangrene,Frequent (79-30%),TAS,,,,"[PMID:20797690, PMID:2297338, PMID:23167815, PMID:23944302, PMID:24140676, PMID:26340091, PMID:28402768, PMID:2925788, PMID:5635456, PMID:9243228]",y,y +GARD:0016531,Orphanet,422,ORPHA:422,13,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,[PMID:20301658],y,y +GARD:0016531,Orphanet,422,ORPHA:422,13,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,[PMID:20301658],y,y +GARD:0016531,Orphanet,422,ORPHA:422,13,HP:0002092,Pulmonary arterial hypertension,Very frequent (99-80%),TAS,,,,[PMID:20301658],y,y +GARD:0016531,Orphanet,422,ORPHA:422,13,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,[PMID:20301658],y,y +GARD:0016531,Orphanet,422,ORPHA:422,13,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,[PMID:20301658],y,y +GARD:0016531,Orphanet,422,ORPHA:422,13,HP:0005133,Right ventricular dilatation,Occasional (29-5%),TAS,,,,[PMID:20301658],y,y +GARD:0016531,Orphanet,422,ORPHA:422,13,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,[PMID:20301658],y,y +GARD:0016531,Orphanet,422,ORPHA:422,13,HP:0010741,Pedal edema,Very rare (<4-1%),TAS,,,,[PMID:20301658],y,y +GARD:0016531,Orphanet,422,ORPHA:422,13,HP:0011025,Abnormal cardiovascular system physiology,Frequent (79-30%),TAS,,,,[PMID:20301658],y,y +GARD:0016531,Orphanet,422,ORPHA:422,13,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,[PMID:20301658],y,y +GARD:0016531,Orphanet,422,ORPHA:422,13,HP:0030148,Heart murmur,Occasional (29-5%),TAS,,,,[PMID:20301658],y,y +GARD:0016531,Orphanet,422,ORPHA:422,13,HP:0030848,Elevated jugular venous pressure,Occasional (29-5%),TAS,,,,[PMID:20301658],y,y +GARD:0016531,Orphanet,422,ORPHA:422,13,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,[PMID:20301658],y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0000127,Renal salt wasting,Obligate (100%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0000846,Adrenal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0000848,Increased circulating renin level,Obligate (100%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0001278,Orthostatic hypotension,Frequent (79-30%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0001954,Recurrent fever,Frequent (79-30%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0002049,Proximal renal tubular acidosis,Frequent (79-30%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0002153,Hyperkalemia,Very frequent (99-80%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0002902,Hyponatremia,Very frequent (99-80%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0004319,Decreased circulating aldosterone level,Very frequent (99-80%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0011106,Hypovolemia,Very frequent (99-80%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016532,Orphanet,427,ORPHA:427,19,HP:0012364,Decreased urinary potassium,Frequent (79-30%),TAS,,,,"[PMID:11238478, PMID:11701710, PMID:14250395, PMID:15134805, PMID:22217826, PMID:9814506]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000002,Abnormality of body height,Frequent (79-30%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000013,Hypoplasia of the uterus,Frequent (79-30%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000026,Male hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000027,Azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000118,Phenotypic abnormality,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000134,Female hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000802,Impotence,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000869,Secondary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0002761,Generalized joint laxity,Occasional (29-5%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0003187,Breast hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0003782,Eunuchoid habitus,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0008187,Absence of secondary sex characteristics,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0008197,Absence of pubertal development,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0008527,Congenital sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0008724,Hypoplasia of the ovary,Frequent (79-30%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0011961,Non-obstructive azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0030019,Increased female libido,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016533,Orphanet,432,ORPHA:432,38,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:15362570, PMID:16500342, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:20332248, PMID:20887964, PMID:22335740, PMID:23349759, PMID:23643382, PMID:26194704, PMID:9371856]",y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0000143,Rectovaginal fistula,Frequent (79-30%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0002144,Tethered cord,Occasional (29-5%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0002937,Hemivertebrae,Frequent (79-30%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0004397,Ectopic anus,Frequent (79-30%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0009790,Hemisacrum,Occasional (29-5%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0012621,Persistent cloaca,Occasional (29-5%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0012732,Anorectal anomaly,Very frequent (99-80%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0025407,Rectourethral fistula,Frequent (79-30%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0030711,Hydrocolpos,Frequent (79-30%),TAS,,,,[PMID:17651510],y,y +GARD:0016534,Orphanet,557,ORPHA:557,16,HP:0100590,Rectal fistula,Frequent (79-30%),TAS,,,,[PMID:17651510],y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0001065,Striae distensae,Very frequent (99-80%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0001083,Ectopia lentis,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0001132,Lens subluxation,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0001519,Disproportionate tall stature,Very frequent (99-80%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0001533,Slender build,Very frequent (99-80%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0001634,Mitral valve prolapse,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0002097,Emphysema,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0002108,Spontaneous pneumothorax,Very frequent (99-80%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0002636,Dilatation of an abdominal artery,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0002996,Limited elbow movement,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0003179,Protrusio acetabuli,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0003302,Spondylolisthesis,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0004382,Mitral valve calcification,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0004927,Pulmonary artery dilatation,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0004933,Ascending aortic dissection,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0004970,Ascending tubular aorta aneurysm,Very frequent (99-80%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0005059,Arthralgia/arthritis,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0005294,Arterial dissection,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0006687,Aortic tortuosity,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0007676,Hypoplasia of the iris,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0007720,Flat cornea,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0007800,Increased axial length of the globe,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0010807,Open bite,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0012019,Lens luxation,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0012369,Abnormal malar bone morphology,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0012432,Chronic fatigue,Very frequent (99-80%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0012499,Descending aortic dissection,Occasional (29-5%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016535,Orphanet,558,ORPHA:558,59,HP:0100775,Dural ectasia,Frequent (79-30%),TAS,,,,"[PMID:25323262, PMID:26621648]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0000544,External ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0002047,Malignant hyperthermia,Occasional (29-5%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0003306,Spinal rigidity,Frequent (79-30%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0003741,Congenital muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0003789,Minicore myopathy,Very frequent (99-80%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0004303,Abnormal muscle fiber morphology,Frequent (79-30%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016536,Orphanet,598,ORPHA:598,21,HP:0008997,Proximal muscle weakness in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:17631035, PMID:22009146]",y,y +GARD:0016537,Orphanet,622,ORPHA:622,13,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0016537,Orphanet,622,ORPHA:622,13,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016537,Orphanet,622,ORPHA:622,13,HP:0000709,Psychosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016537,Orphanet,622,ORPHA:622,13,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016537,Orphanet,622,ORPHA:622,13,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016537,Orphanet,622,ORPHA:622,13,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016537,Orphanet,622,ORPHA:622,13,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016537,Orphanet,622,ORPHA:622,13,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016537,Orphanet,622,ORPHA:622,13,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0016537,Orphanet,622,ORPHA:622,13,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0016537,Orphanet,622,ORPHA:622,13,HP:0001980,Megaloblastic bone marrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016537,Orphanet,622,ORPHA:622,13,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0016537,Orphanet,622,ORPHA:622,13,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0016539,Orphanet,650,ORPHA:650,13,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:32998975, PMID:34256778]",y,y +GARD:0016539,Orphanet,650,ORPHA:650,13,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:32998975, PMID:34256778]",y,y +GARD:0016539,Orphanet,650,ORPHA:650,13,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:32998975, PMID:34256778]",y,y +GARD:0016539,Orphanet,650,ORPHA:650,13,HP:0001878,Hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:32998975, PMID:34256778]",y,y +GARD:0016539,Orphanet,650,ORPHA:650,13,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:32998975, PMID:34256778]",y,y +GARD:0016539,Orphanet,650,ORPHA:650,13,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:32998975, PMID:34256778]",y,y +GARD:0016539,Orphanet,650,ORPHA:650,13,HP:0002621,Atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:32998975, PMID:34256778]",y,y +GARD:0016539,Orphanet,650,ORPHA:650,13,HP:0003233,Decreased HDL cholesterol concentration,Very frequent (99-80%),TAS,,,,"[PMID:32998975, PMID:34256778]",y,y +GARD:0016539,Orphanet,650,ORPHA:650,13,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:32998975, PMID:34256778]",y,y +GARD:0016539,Orphanet,650,ORPHA:650,13,HP:0005181,Premature coronary artery atherosclerosis,Occasional (29-5%),TAS,,,,"[PMID:32998975, PMID:34256778]",y,y +GARD:0016539,Orphanet,650,ORPHA:650,13,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,"[PMID:32998975, PMID:34256778]",y,y +GARD:0016539,Orphanet,650,ORPHA:650,13,HP:0012213,Decreased glomerular filtration rate,Frequent (79-30%),TAS,,,,"[PMID:32998975, PMID:34256778]",y,y +GARD:0016539,Orphanet,650,ORPHA:650,13,HP:0031799,Decreased circulating apolipoprotein AI concentration,Very frequent (99-80%),TAS,,,,"[PMID:32998975, PMID:34256778]",y,y +GARD:0016540,Orphanet,660,ORPHA:660,2,HP:0001539,Omphalocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016540,Orphanet,660,ORPHA:660,2,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016542,Orphanet,737,ORPHA:737,10,HP:0000972,Palmoplantar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:12932230, PMID:21929548, PMID:33491095]",y,y +GARD:0016542,Orphanet,737,ORPHA:737,10,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:12932230, PMID:21929548, PMID:33491095]",y,y +GARD:0016542,Orphanet,737,ORPHA:737,10,HP:0002814,Abnormality of the lower limb,Occasional (29-5%),TAS,,,,"[PMID:12932230, PMID:21929548, PMID:33491095]",y,y +GARD:0016542,Orphanet,737,ORPHA:737,10,HP:0011354,Generalized abnormality of skin,Occasional (29-5%),TAS,,,,"[PMID:12932230, PMID:21929548, PMID:33491095]",y,y +GARD:0016542,Orphanet,737,ORPHA:737,10,HP:0025528,Annular cutaneous lesion,Frequent (79-30%),TAS,,,,"[PMID:12932230, PMID:21929548, PMID:33491095]",y,y +GARD:0016542,Orphanet,737,ORPHA:737,10,HP:0040211,Abnormal skin morphology of the palm,Frequent (79-30%),TAS,,,,"[PMID:12932230, PMID:21929548, PMID:33491095]",y,y +GARD:0016542,Orphanet,737,ORPHA:737,10,HP:0045059,Hyperkeratotic papule,Frequent (79-30%),TAS,,,,"[PMID:12932230, PMID:21929548, PMID:33491095]",y,y +GARD:0016542,Orphanet,737,ORPHA:737,10,HP:0100872,Abnormality of the plantar skin of foot,Frequent (79-30%),TAS,,,,"[PMID:12932230, PMID:21929548, PMID:33491095]",y,y +GARD:0016542,Orphanet,737,ORPHA:737,10,HP:0200035,Skin plaque,Frequent (79-30%),TAS,,,,"[PMID:12932230, PMID:21929548, PMID:33491095]",y,y +GARD:0016542,Orphanet,737,ORPHA:737,10,HP:0200044,Porokeratosis,Frequent (79-30%),TAS,,,,"[PMID:12932230, PMID:21929548, PMID:33491095]",y,y +GARD:0016543,Orphanet,743,ORPHA:743,14,HP:0000488,Retinopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0016543,Orphanet,743,ORPHA:743,14,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0016543,Orphanet,743,ORPHA:743,14,HP:0000979,Purpura,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016543,Orphanet,743,ORPHA:743,14,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0016543,Orphanet,743,ORPHA:743,14,HP:0001933,Subcutaneous hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0016543,Orphanet,743,ORPHA:743,14,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,,y,y +GARD:0016543,Orphanet,743,ORPHA:743,14,HP:0002625,Deep venous thrombosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016543,Orphanet,743,ORPHA:743,14,HP:0004418,Thrombophlebitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016543,Orphanet,743,ORPHA:743,14,HP:0004420,Arterial thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016543,Orphanet,743,ORPHA:743,14,HP:0005293,Venous insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0016543,Orphanet,743,ORPHA:743,14,HP:0008065,Aplasia/Hypoplasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0016543,Orphanet,743,ORPHA:743,14,HP:0100659,Abnormal cerebral vascular morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016543,Orphanet,743,ORPHA:743,14,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,,y,y +GARD:0016543,Orphanet,743,ORPHA:743,14,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0016544,Orphanet,745,ORPHA:745,10,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0016544,Orphanet,745,ORPHA:745,10,HP:0000979,Purpura,Frequent (79-30%),TAS,,,,,y,y +GARD:0016544,Orphanet,745,ORPHA:745,10,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0016544,Orphanet,745,ORPHA:745,10,HP:0001038,Warfarin-induced skin necrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016544,Orphanet,745,ORPHA:745,10,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,,y,y +GARD:0016544,Orphanet,745,ORPHA:745,10,HP:0004936,Venous thrombosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016544,Orphanet,745,ORPHA:745,10,HP:0005293,Venous insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0016544,Orphanet,745,ORPHA:745,10,HP:0008065,Aplasia/Hypoplasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0016544,Orphanet,745,ORPHA:745,10,HP:0100659,Abnormal cerebral vascular morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016544,Orphanet,745,ORPHA:745,10,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,,y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0000837,Increased circulating gonadotropin level,Frequent (79-30%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0000957,Cafe-au-lait spot,Very rare (<4-1%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0001061,Acne,Occasional (29-5%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0001287,Meningitis,Very rare (<4-1%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0001548,Overgrowth,Frequent (79-30%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0002444,Hypothalamic hamartoma,Occasional (29-5%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0002686,Prenatal maternal abnormality,Occasional (29-5%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0002805,Accelerated bone age after puberty,Frequent (79-30%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0003508,Proportionate short stature,Frequent (79-30%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0004324,Increased body weight,Frequent (79-30%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0008236,Isosexual precocious puberty,Obligate (100%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0009888,Abnormality of secondary sexual hair,Frequent (79-30%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016546,Orphanet,759,ORPHA:759,15,HP:0010314,Premature thelarche,Frequent (79-30%),TAS,,,,"[PMID:18272894, PMID:18509122, PMID:20554707, PMID:23738509, PMID:23936254, PMID:24628548, PMID:26431553, PMID:26852255]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0000013,Hypoplasia of the uterus,Very frequent (99-80%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0000834,Abnormality of the adrenal glands,Excluded (0%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0000842,Hyperinsulinemia,Frequent (79-30%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0000956,Acanthosis nigricans,Frequent (79-30%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0001061,Acne,Frequent (79-30%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0001548,Overgrowth,Very frequent (99-80%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0001677,Coronary artery atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0001952,Glucose intolerance,Frequent (79-30%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0002663,Delayed epiphyseal ossification,Very frequent (99-80%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0003117,Abnormal circulating hormone concentration,Very frequent (99-80%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0003187,Breast hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0003799,Marked delay in bone age,Very frequent (99-80%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0008187,Absence of secondary sex characteristics,Very frequent (99-80%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0008197,Absence of pubertal development,Very frequent (99-80%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0008675,Enlarged polycystic ovaries,Very frequent (99-80%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0010679,Elevated tissue non-specific alkaline phosphatase,Frequent (79-30%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0030087,Abnormal circulating testosterone concentration,Excluded (0%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016548,Orphanet,785,ORPHA:785,24,HP:0100133,Abnormality of the pubic hair,Excluded (0%),TAS,,,,"[PMID:24152274, PMID:27754803, PMID:8090165, PMID:9396482]",y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0001083,Ectopia lentis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0001285,Spastic tetraparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0002793,Abnormal pattern of respiration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0004374,Hemiplegia/hemiparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0012471,Thick vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016549,Orphanet,833,ORPHA:833,21,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000015,Bladder diverticulum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000085,Horseshoe kidney,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000588,Optic disc coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000589,Coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0001172,Abnormal thumb morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0001177,Preaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0001199,Triphalangeal thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0002818,Abnormality of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0002948,Vertebral fusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0003022,Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0004059,Radial club hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0004712,Renal malrotation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0004736,Crossed fused renal ectopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0005792,Short humerus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0007766,Optic disc hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0008897,Postnatal growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0009650,Short distal phalanx of the thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0009778,Short thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0010059,Broad hallux phalanx,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0010109,Short hallux,Frequent (79-30%),TAS,,,,,y,y +GARD:0016551,Orphanet,959,ORPHA:959,44,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016552,Orphanet,983,ORPHA:983,11,HP:0000008,Abnormal morphology of female internal genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016552,Orphanet,983,ORPHA:983,11,HP:0000022,Abnormality of male internal genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016552,Orphanet,983,ORPHA:983,11,HP:0000037,Male pseudohermaphroditism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016552,Orphanet,983,ORPHA:983,11,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016552,Orphanet,983,ORPHA:983,11,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016552,Orphanet,983,ORPHA:983,11,HP:0000271,Abnormality of the face,Occasional (29-5%),TAS,,,,,y,y +GARD:0016552,Orphanet,983,ORPHA:983,11,HP:0008633,Agonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016552,Orphanet,983,ORPHA:983,11,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016552,Orphanet,983,ORPHA:983,11,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016552,Orphanet,983,ORPHA:983,11,HP:0010468,Aplasia/Hypoplasia of the testes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016552,Orphanet,983,ORPHA:983,11,HP:0010469,Absent testis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016553,Orphanet,1014,ORPHA:1014,3,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016553,Orphanet,1014,ORPHA:1014,3,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0016553,Orphanet,1014,ORPHA:1014,3,HP:0007418,Alopecia totalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016554,Orphanet,1027,ORPHA:1027,13,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016554,Orphanet,1027,ORPHA:1027,13,HP:0000046,Small scrotum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016554,Orphanet,1027,ORPHA:1027,13,HP:0000202,Oral cleft,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016554,Orphanet,1027,ORPHA:1027,13,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016554,Orphanet,1027,ORPHA:1027,13,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016554,Orphanet,1027,ORPHA:1027,13,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016554,Orphanet,1027,ORPHA:1027,13,HP:0001671,Abnormal cardiac septum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016554,Orphanet,1027,ORPHA:1027,13,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016554,Orphanet,1027,ORPHA:1027,13,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016554,Orphanet,1027,ORPHA:1027,13,HP:0009812,Amelia involving the upper limbs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016554,Orphanet,1027,ORPHA:1027,13,HP:0009827,Amelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016554,Orphanet,1027,ORPHA:1027,13,HP:0010494,Acromelia of the lower limbs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016554,Orphanet,1027,ORPHA:1027,13,HP:0100335,Non-midline cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0000252,Microcephaly,Obligate (100%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0001339,Lissencephaly,Frequent (79-30%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0002079,Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0006891,Thick cerebral cortex,Frequent (79-30%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0007165,Periventricular heterotopia,Occasional (29-5%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0007190,Neuronal loss in the cerebral cortex,Very frequent (99-80%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0007266,Cerebral dysmyelination,Very frequent (99-80%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0009879,Simplified gyral pattern,Occasional (29-5%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0025190,Bilateral tonic-clonic seizure with generalized onset,Very frequent (99-80%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016555,Orphanet,1083,ORPHA:1083,22,HP:0032391,Subcortical heterotopia,Occasional (29-5%),TAS,,,,"[PMID:25521378, PMID:30637988, PMID:31586943, PMID:33026328]",y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0000465,Webbed neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0001181,Adducted thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0003049,Ulnar deviation of the wrist,Frequent (79-30%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0008368,Tarsal synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0009465,Ulnar deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0010557,Overlapping fingers,Frequent (79-30%),TAS,,,,,y,y +GARD:0016556,Orphanet,1147,ORPHA:1147,20,HP:0100830,Round ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0000178,Abnormality of lower lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0003272,Abnormal hip bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0004414,Abnormality of the pulmonary artery,Occasional (29-5%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0005562,Multiple renal cysts,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0009804,Tooth agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0011333,Asymmetric crying face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016557,Orphanet,1166,ORPHA:1166,26,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0001152,Saccadic smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0002395,Lower limb hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0002503,Spinocerebellar tract degeneration,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0003445,EMG: neuropathic changes,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0003447,Axonal loss,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0008944,Distal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0009027,Foot dorsiflexor weakness,Occasional (29-5%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016558,Orphanet,1175,ORPHA:1175,26,HP:0200101,Decreased/absent ankle reflexes,Frequent (79-30%),TAS,,,,"[PMID:10797423, PMID:23773993]",y,y +GARD:0016559,Orphanet,1178,ORPHA:1178,9,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0016559,Orphanet,1178,ORPHA:1178,9,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016559,Orphanet,1178,ORPHA:1178,9,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016559,Orphanet,1178,ORPHA:1178,9,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016559,Orphanet,1178,ORPHA:1178,9,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016559,Orphanet,1178,ORPHA:1178,9,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016559,Orphanet,1178,ORPHA:1178,9,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0016559,Orphanet,1178,ORPHA:1178,9,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0016559,Orphanet,1178,ORPHA:1178,9,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0016560,Orphanet,1182,ORPHA:1182,8,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016560,Orphanet,1182,ORPHA:1182,8,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0016560,Orphanet,1182,ORPHA:1182,8,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016560,Orphanet,1182,ORPHA:1182,8,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016560,Orphanet,1182,ORPHA:1182,8,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016560,Orphanet,1182,ORPHA:1182,8,HP:0002497,Spastic ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016560,Orphanet,1182,ORPHA:1182,8,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016560,Orphanet,1182,ORPHA:1182,8,HP:0007728,Congenital miosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0001562,Oligohydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0001641,Abnormal pulmonary valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0001646,Abnormal aortic valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0001987,Hyperammonemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0002383,Infectious encephalitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0003535,3-Methylglutaconic aciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0011343,Moderate global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016561,Orphanet,1194,ORPHA:1194,30,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0000048,Bifid scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0000458,Anosmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0005288,Abnormality of the nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0010624,Aplastic/hypoplastic toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016562,Orphanet,1295,ORPHA:1295,19,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016563,Orphanet,1336,ORPHA:1336,5,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016563,Orphanet,1336,ORPHA:1336,5,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0016563,Orphanet,1336,ORPHA:1336,5,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016563,Orphanet,1336,ORPHA:1336,5,HP:0007565,Multiple cafe-au-lait spots,Frequent (79-30%),TAS,,,,,y,y +GARD:0016563,Orphanet,1336,ORPHA:1336,5,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0001907,Thromboembolism,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0001962,Palpitations,Very frequent (99-80%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0002140,Ischemic stroke,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0003560,Muscular dystrophy,Frequent (79-30%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0004756,Ventricular tachycardia,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0005155,Ventricular escape rhythm,Very frequent (99-80%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0011704,Sick sinus syndrome,Frequent (79-30%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0011707,Mobitz I atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0011712,Right bundle branch block,Frequent (79-30%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0012664,Reduced ejection fraction,Frequent (79-30%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0025478,Atrial standstill,Very frequent (99-80%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0030682,Left ventricular noncompaction,Frequent (79-30%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0030973,Postexertional malaise,Frequent (79-30%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0031546,Cardiac conduction abnormality,Very frequent (99-80%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0031595,Abnormal P wave,Very frequent (99-80%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016564,Orphanet,1344,ORPHA:1344,32,HP:0410174,Increased circulating troponin T concentration,Frequent (79-30%),TAS,,,,"[PMID:26897154, PMID:29387541, PMID:32755394]",y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0000037,Male pseudohermaphroditism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0000616,Miosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0003043,Abnormal shoulder morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0004330,Increased skull ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0005622,Broad long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0006872,Cerebral hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0007676,Hypoplasia of the iris,Frequent (79-30%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0009803,Short phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016565,Orphanet,1422,ORPHA:1422,22,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016566,Orphanet,1479,ORPHA:1479,3,HP:0001671,Abnormal cardiac septum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016566,Orphanet,1479,ORPHA:1479,3,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016566,Orphanet,1479,ORPHA:1479,3,HP:0011710,Bundle branch block,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0000370,Abnormality of the middle ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0000921,Missing ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0001545,Anteriorly placed anus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0009623,Proximal placement of thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016567,Orphanet,1488,ORPHA:1488,26,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000637,Long palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000902,Rib fusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001052,Nevus flammeus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001171,Split hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001641,Abnormal pulmonary valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001702,Abnormal tricuspid valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0002263,Exaggerated cupid's bow,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0003042,Elbow dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0003272,Abnormal hip bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0003422,Vertebral segmentation defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0005048,Synostosis of carpal bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0010059,Broad hallux phalanx,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0010296,Ankyloglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0010297,Bifid tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0010807,Open bite,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0012815,Hypoplastic female external genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0016568,Orphanet,1507,ORPHA:1507,80,HP:0100798,Fingernail dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000243,Trigonocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000391,Thickened helices,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0009601,Aplasia/Hypoplasia of the thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0009919,Retinoblastoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0016570,Orphanet,1587,ORPHA:1587,30,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0002323,Anencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0005916,Abnormal metacarpal morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0008207,Primary adrenal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0009601,Aplasia/Hypoplasia of the thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0016571,Orphanet,1590,ORPHA:1590,22,HP:0100589,Urogenital fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000476,Cystic hygroma,Occasional (29-5%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0001195,Single umbilical artery,Occasional (29-5%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0001647,Bicuspid aortic valve,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0001680,Coarctation of aorta,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0001718,Mitral stenosis,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0001792,Small nail,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0002761,Generalized joint laxity,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0004383,Hypoplastic left heart,Occasional (29-5%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0004471,Aplasia cutis congenita over the scalp vertex,Occasional (29-5%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0005469,Flat occiput,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0005709,2-3 toe cutaneous syndactyly,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0009381,Short finger,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0010297,Bifid tongue,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0011560,Mitral atresia,Occasional (29-5%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0011651,Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis,Occasional (29-5%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0012303,Abnormal aortic arch morphology,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0030353,Decreased serum insulin-like growth factor 1,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0030918,Low 1-minute APGAR score,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0040019,Finger clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016572,Orphanet,1596,ORPHA:1596,60,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:16114049, PMID:17702015, PMID:1849352, PMID:18512227, PMID:20962017, PMID:23603061, PMID:27192887]",y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0000079,Abnormality of the urinary system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0000235,Abnormality of the fontanelles or cranial sutures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0001155,Abnormality of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016573,Orphanet,1621,ORPHA:1621,17,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016574,Orphanet,1646,ORPHA:1646,6,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:10523003, PMID:10523011, PMID:11687796, PMID:16720375, PMID:17213277, PMID:18782837, PMID:18807255, PMID:19246359, PMID:19602516]",y,y +GARD:0016574,Orphanet,1646,ORPHA:1646,6,HP:0000798,Oligospermia,Frequent (79-30%),TAS,,,,"[PMID:10523003, PMID:10523011, PMID:11687796, PMID:16720375, PMID:17213277, PMID:18782837, PMID:18807255, PMID:19246359, PMID:19602516]",y,y +GARD:0016574,Orphanet,1646,ORPHA:1646,6,HP:0003251,Male infertility,Very frequent (99-80%),TAS,,,,"[PMID:10523003, PMID:10523011, PMID:11687796, PMID:16720375, PMID:17213277, PMID:18782837, PMID:18807255, PMID:19246359, PMID:19602516]",y,y +GARD:0016574,Orphanet,1646,ORPHA:1646,6,HP:0008669,Abnormal spermatogenesis,Very frequent (99-80%),TAS,,,,"[PMID:10523003, PMID:10523011, PMID:11687796, PMID:16720375, PMID:17213277, PMID:18782837, PMID:18807255, PMID:19246359, PMID:19602516]",y,y +GARD:0016574,Orphanet,1646,ORPHA:1646,6,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:10523003, PMID:10523011, PMID:11687796, PMID:16720375, PMID:17213277, PMID:18782837, PMID:18807255, PMID:19246359, PMID:19602516]",y,y +GARD:0016574,Orphanet,1646,ORPHA:1646,6,HP:0011961,Non-obstructive azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:10523003, PMID:10523011, PMID:11687796, PMID:16720375, PMID:17213277, PMID:18782837, PMID:18807255, PMID:19246359, PMID:19602516]",y,y +GARD:0016575,Orphanet,1653,ORPHA:1653,4,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016575,Orphanet,1653,ORPHA:1653,4,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016575,Orphanet,1653,ORPHA:1653,4,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016575,Orphanet,1653,ORPHA:1653,4,HP:0100777,Exostoses,Frequent (79-30%),TAS,,,,,y,y +GARD:0016577,Orphanet,1682,ORPHA:1682,4,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016577,Orphanet,1682,ORPHA:1682,4,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016577,Orphanet,1682,ORPHA:1682,4,HP:0005294,Arterial dissection,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016577,Orphanet,1682,ORPHA:1682,4,HP:0100026,Arteriovenous malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000492,Abnormal eyelid morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000691,Microdontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0002991,Abnormality of fibula morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0010624,Aplastic/hypoplastic toenail,Occasional (29-5%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016578,Orphanet,1812,ORPHA:1812,39,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0000008,Abnormal morphology of female internal genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0000104,Renal agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0001562,Oligohydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0001563,Fetal polyuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0001958,Nonketotic hypoglycemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0002089,Pulmonary hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0002242,Abnormal intestine morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0002575,Tracheoesophageal fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0005107,Abnormal sacrum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0010497,Sirenomelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0100335,Non-midline cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0016579,Orphanet,1848,ORPHA:1848,18,HP:0100589,Urogenital fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0000008,Abnormal morphology of female internal genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0000073,Ureteral duplication,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0000098,Tall stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0000126,Hydronephrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0000464,Abnormality of the neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0001195,Single umbilical artery,Frequent (79-30%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0001636,Tetralogy of Fallot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0001669,Transposition of the great arteries,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0001679,Abnormal aortic morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0001732,Abnormality of the pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0003422,Vertebral segmentation defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0004414,Abnormality of the pulmonary artery,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0005107,Abnormal sacrum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0008056,Aplasia/Hypoplasia affecting the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0008678,Renal hypoplasia/aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0010301,Spinal dysraphism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016580,Orphanet,1926,ORPHA:1926,32,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0002123,Generalized myoclonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0011153,Focal motor seizure,Very frequent (99-80%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0011167,Focal tonic seizure,Frequent (79-30%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0011168,Focal seizure with eyelid myoclonia,Very frequent (99-80%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0012469,Infantile spasms,Very frequent (99-80%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016581,Orphanet,1935,ORPHA:1935,17,HP:0200134,Epileptic encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:19812426, PMID:27789573]",y,y +GARD:0016582,Orphanet,2024,ORPHA:2024,2,HP:0000169,Gingival fibromatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016582,Orphanet,2024,ORPHA:2024,2,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0000169,Gingival fibromatosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0000940,Abnormal diaphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0005876,Progressive flexion contractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0008065,Aplasia/Hypoplasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016583,Orphanet,2028,ORPHA:2028,16,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0016585,Orphanet,2138,ORPHA:2138,14,HP:0000008,Abnormal morphology of female internal genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016585,Orphanet,2138,ORPHA:2138,14,HP:0000022,Abnormality of male internal genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016585,Orphanet,2138,ORPHA:2138,14,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016585,Orphanet,2138,ORPHA:2138,14,HP:0000046,Small scrotum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016585,Orphanet,2138,ORPHA:2138,14,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016585,Orphanet,2138,ORPHA:2138,14,HP:0000048,Bifid scrotum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016585,Orphanet,2138,ORPHA:2138,14,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016585,Orphanet,2138,ORPHA:2138,14,HP:0000130,Abnormality of the uterus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016585,Orphanet,2138,ORPHA:2138,14,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016585,Orphanet,2138,ORPHA:2138,14,HP:0000147,Polycystic ovaries,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016585,Orphanet,2138,ORPHA:2138,14,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016585,Orphanet,2138,ORPHA:2138,14,HP:0010459,True hermaphroditism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016585,Orphanet,2138,ORPHA:2138,14,HP:0012856,Abnormal scrotal rugation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016585,Orphanet,2138,ORPHA:2138,14,HP:0100779,Urogenital sinus anomaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016586,Orphanet,2149,ORPHA:2149,3,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016586,Orphanet,2149,ORPHA:2149,3,HP:0002269,Abnormality of neuronal migration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016586,Orphanet,2149,ORPHA:2149,3,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016587,Orphanet,2197,ORPHA:2197,7,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:11932268, PMID:2971139, PMID:3183056, PMID:759893, PMID:9637423]",y,y +GARD:0016587,Orphanet,2197,ORPHA:2197,7,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:11932268, PMID:2971139, PMID:3183056, PMID:759893, PMID:9637423]",y,y +GARD:0016587,Orphanet,2197,ORPHA:2197,7,HP:0002150,Hypercalciuria,Obligate (100%),TAS,,,,"[PMID:11932268, PMID:2971139, PMID:3183056, PMID:759893, PMID:9637423]",y,y +GARD:0016587,Orphanet,2197,ORPHA:2197,7,HP:0003529,Parathormone-independent increased renal tubular calcium reabsorption,Excluded (0%),TAS,,,,"[PMID:11932268, PMID:2971139, PMID:3183056, PMID:759893, PMID:9637423]",y,y +GARD:0016587,Orphanet,2197,ORPHA:2197,7,HP:0004363,Abnormal circulating calcium concentration,Excluded (0%),TAS,,,,"[PMID:11932268, PMID:2971139, PMID:3183056, PMID:759893, PMID:9637423]",y,y +GARD:0016587,Orphanet,2197,ORPHA:2197,7,HP:0008672,Calcium oxalate nephrolithiasis,Frequent (79-30%),TAS,,,,"[PMID:11932268, PMID:2971139, PMID:3183056, PMID:759893, PMID:9637423]",y,y +GARD:0016587,Orphanet,2197,ORPHA:2197,7,HP:0012637,Renal calcium wasting,Obligate (100%),TAS,,,,"[PMID:11932268, PMID:2971139, PMID:3183056, PMID:759893, PMID:9637423]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0000534,Abnormal eyebrow morphology,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0000789,Infertility,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0000802,Impotence,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0000815,Hypergonadotropic hypogonadism,Obligate (100%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0001199,Triphalangeal thumb,Occasional (29-5%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0002225,Sparse pubic hair,Frequent (79-30%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0002293,Alopecia of scalp,Obligate (100%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0002938,Lumbar hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0003187,Breast hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0003393,Thenar muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0003799,Marked delay in bone age,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0005469,Flat occiput,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0006184,Decreased palmar creases,Occasional (29-5%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0007464,Sparse facial hair,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0008187,Absence of secondary sex characteristics,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0008193,Primary gonadal insufficiency,Obligate (100%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0008214,Decreased serum estradiol,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0008633,Agonadism,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0008684,Aplasia/hypoplasia of the uterus,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0009185,Contracture of the proximal interphalangeal joint of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0010463,Aplasia of the ovary,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0010464,Streak ovary,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0010487,Small hypothenar eminence,Occasional (29-5%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0011961,Non-obstructive azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0012506,Small pituitary gland,Occasional (29-5%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016588,Orphanet,2232,ORPHA:2232,41,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,"[PMID:12749067, PMID:19213036, PMID:4061495]",y,y +GARD:0016589,Orphanet,2239,ORPHA:2239,8,HP:0002150,Hypercalciuria,Very frequent (99-80%),TAS,,,,"[PMID:10910362, PMID:11602629, PMID:15728199, PMID:16167084, PMID:18182452, PMID:1973175, PMID:20463099, PMID:23155703, PMID:25137426, PMID:25279501, PMID:7196945]",y,y +GARD:0016589,Orphanet,2239,ORPHA:2239,8,HP:0002199,Hypocalcemic seizures,Very frequent (99-80%),TAS,,,,"[PMID:10910362, PMID:11602629, PMID:15728199, PMID:16167084, PMID:18182452, PMID:1973175, PMID:20463099, PMID:23155703, PMID:25137426, PMID:25279501, PMID:7196945]",y,y +GARD:0016589,Orphanet,2239,ORPHA:2239,8,HP:0002901,Hypocalcemia,Obligate (100%),TAS,,,,"[PMID:10910362, PMID:11602629, PMID:15728199, PMID:16167084, PMID:18182452, PMID:1973175, PMID:20463099, PMID:23155703, PMID:25137426, PMID:25279501, PMID:7196945]",y,y +GARD:0016589,Orphanet,2239,ORPHA:2239,8,HP:0002905,Hyperphosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:10910362, PMID:11602629, PMID:15728199, PMID:16167084, PMID:18182452, PMID:1973175, PMID:20463099, PMID:23155703, PMID:25137426, PMID:25279501, PMID:7196945]",y,y +GARD:0016589,Orphanet,2239,ORPHA:2239,8,HP:0002917,Hypomagnesemia,Occasional (29-5%),TAS,,,,"[PMID:10910362, PMID:11602629, PMID:15728199, PMID:16167084, PMID:18182452, PMID:1973175, PMID:20463099, PMID:23155703, PMID:25137426, PMID:25279501, PMID:7196945]",y,y +GARD:0016589,Orphanet,2239,ORPHA:2239,8,HP:0003251,Male infertility,Frequent (79-30%),TAS,,,,"[PMID:10910362, PMID:11602629, PMID:15728199, PMID:16167084, PMID:18182452, PMID:1973175, PMID:20463099, PMID:23155703, PMID:25137426, PMID:25279501, PMID:7196945]",y,y +GARD:0016589,Orphanet,2239,ORPHA:2239,8,HP:0008198,Congenital hypoparathyroidism,Obligate (100%),TAS,,,,"[PMID:10910362, PMID:11602629, PMID:15728199, PMID:16167084, PMID:18182452, PMID:1973175, PMID:20463099, PMID:23155703, PMID:25137426, PMID:25279501, PMID:7196945]",y,y +GARD:0016589,Orphanet,2239,ORPHA:2239,8,HP:0008211,Parathyroid agenesis,Obligate (100%),TAS,,,,"[PMID:10910362, PMID:11602629, PMID:15728199, PMID:16167084, PMID:18182452, PMID:1973175, PMID:20463099, PMID:23155703, PMID:25137426, PMID:25279501, PMID:7196945]",y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000023,Inguinal hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000176,Submucous cleft hard palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000309,Abnormality of the midface,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000458,Anosmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000528,Anophthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000618,Blindness,Frequent (79-30%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000646,Amblyopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000692,Tooth malposition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0003241,External genital hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0004409,Hyposmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0006352,Failure of eruption of permanent teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0009023,Abdominal wall muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0009932,Single naris,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0040326,Hypoplasia of the olfactory bulb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016590,Orphanet,2250,ORPHA:2250,25,HP:0100596,Absent nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0000071,Ureteral stenosis,Very rare (<4-1%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0001651,Dextrocardia,Occasional (29-5%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0001684,Secundum atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0002089,Pulmonary hypoplasia,Obligate (100%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0002099,Asthma,Very rare (<4-1%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0002104,Apnea,Frequent (79-30%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0002107,Pneumothorax,Very rare (<4-1%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0002778,Abnormal tracheal morphology,Occasional (29-5%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0003065,Patellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0030829,Abnormal breath sound,Frequent (79-30%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0030966,Abnormal pulmonary artery morphology,Very rare (<4-1%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0032094,Increased circulating surfactant protein level,Excluded (0%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016591,Orphanet,2257,ORPHA:2257,26,HP:0040045,Abnormal hemidiaphragm morphology,Occasional (29-5%),TAS,,,,"[PMID:27374786, PMID:30413314, PMID:30639323, PMID:30828993, PMID:608831]",y,y +GARD:0016592,Orphanet,2301,ORPHA:2301,7,HP:0002566,Intestinal malrotation,Frequent (79-30%),TAS,,,,,y,y +GARD:0016592,Orphanet,2301,ORPHA:2301,7,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0016592,Orphanet,2301,ORPHA:2301,7,HP:0005245,Intestinal hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016592,Orphanet,2301,ORPHA:2301,7,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0016592,Orphanet,2301,ORPHA:2301,7,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0016592,Orphanet,2301,ORPHA:2301,7,HP:0100578,Lipoatrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0016592,Orphanet,2301,ORPHA:2301,7,HP:0100627,Displacement of the urethral meatus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016593,Orphanet,2310,ORPHA:2310,9,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016593,Orphanet,2310,ORPHA:2310,9,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016593,Orphanet,2310,ORPHA:2310,9,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016593,Orphanet,2310,ORPHA:2310,9,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016593,Orphanet,2310,ORPHA:2310,9,HP:0002814,Abnormality of the lower limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016593,Orphanet,2310,ORPHA:2310,9,HP:0002823,Abnormality of femur morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016593,Orphanet,2310,ORPHA:2310,9,HP:0003307,Hyperlordosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016593,Orphanet,2310,ORPHA:2310,9,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016593,Orphanet,2310,ORPHA:2310,9,HP:0009816,Lower limb undergrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0001385,Hip dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016595,Orphanet,2370,ORPHA:2370,21,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0016596,Orphanet,2374,ORPHA:2374,6,HP:0001601,Laryngomalacia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016596,Orphanet,2374,ORPHA:2374,6,HP:0001609,Hoarse voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016596,Orphanet,2374,ORPHA:2374,6,HP:0001671,Abnormal cardiac septum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016596,Orphanet,2374,ORPHA:2374,6,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,,y,y +GARD:0016596,Orphanet,2374,ORPHA:2374,6,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016596,Orphanet,2374,ORPHA:2374,6,HP:0010307,Stridor,Frequent (79-30%),TAS,,,,,y,y +GARD:0016597,Orphanet,2375,ORPHA:2375,7,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:14172969, PMID:2277390, PMID:4751313]",y,y +GARD:0016597,Orphanet,2375,ORPHA:2375,7,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:14172969, PMID:2277390, PMID:4751313]",y,y +GARD:0016597,Orphanet,2375,ORPHA:2375,7,HP:0001605,Vocal cord paralysis,Obligate (100%),TAS,,,,"[PMID:14172969, PMID:2277390, PMID:4751313]",y,y +GARD:0016597,Orphanet,2375,ORPHA:2375,7,HP:0002110,Bronchiectasis,Obligate (100%),TAS,,,,"[PMID:14172969, PMID:2277390, PMID:4751313]",y,y +GARD:0016597,Orphanet,2375,ORPHA:2375,7,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:14172969, PMID:2277390, PMID:4751313]",y,y +GARD:0016597,Orphanet,2375,ORPHA:2375,7,HP:0004886,Congenital laryngeal stridor,Obligate (100%),TAS,,,,"[PMID:14172969, PMID:2277390, PMID:4751313]",y,y +GARD:0016597,Orphanet,2375,ORPHA:2375,7,HP:0012768,Neonatal asphyxia,Frequent (79-30%),TAS,,,,"[PMID:14172969, PMID:2277390, PMID:4751313]",y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0000336,Prominent supraorbital ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0001956,Truncal obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0016598,Orphanet,2429,ORPHA:2429,24,HP:0100874,Thick hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0016599,Orphanet,2430,ORPHA:2430,4,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,"[PMID:29421209, PMID:7917123]",y,y +GARD:0016599,Orphanet,2430,ORPHA:2430,4,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:29421209, PMID:7917123]",y,y +GARD:0016599,Orphanet,2430,ORPHA:2430,4,HP:0001067,Neurofibromas,Very rare (<4-1%),TAS,,,,"[PMID:29421209, PMID:7917123]",y,y +GARD:0016599,Orphanet,2430,ORPHA:2430,4,HP:0500030,Abnormal hepatic glycogen storage,Very rare (<4-1%),TAS,,,,"[PMID:29421209, PMID:7917123]",y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0000040,Long penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0000053,Macroorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0000235,Abnormality of the fontanelles or cranial sutures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0000269,Prominent occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0000307,Pointed chin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0001956,Truncal obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016601,Orphanet,2477,ORPHA:2477,16,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016602,Orphanet,2489,ORPHA:2489,12,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016602,Orphanet,2489,ORPHA:2489,12,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016602,Orphanet,2489,ORPHA:2489,12,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016602,Orphanet,2489,ORPHA:2489,12,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0016602,Orphanet,2489,ORPHA:2489,12,HP:0000567,Chorioretinal coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016602,Orphanet,2489,ORPHA:2489,12,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016602,Orphanet,2489,ORPHA:2489,12,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016602,Orphanet,2489,ORPHA:2489,12,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016602,Orphanet,2489,ORPHA:2489,12,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016602,Orphanet,2489,ORPHA:2489,12,HP:0009739,Hypoplasia of the antihelix,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016602,Orphanet,2489,ORPHA:2489,12,HP:0009778,Short thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016602,Orphanet,2489,ORPHA:2489,12,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0000499,Abnormal eyelash morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0002269,Abnormality of neuronal migration,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016603,Orphanet,2518,ORPHA:2518,22,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016604,Orphanet,2680,ORPHA:2680,5,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016604,Orphanet,2680,ORPHA:2680,5,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016604,Orphanet,2680,ORPHA:2680,5,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016604,Orphanet,2680,ORPHA:2680,5,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016604,Orphanet,2680,ORPHA:2680,5,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0001875,Neutropenia,Obligate (100%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0002718,Recurrent bacterial infections,Frequent (79-30%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0002841,Recurrent fungal infections,Very rare (<4-1%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0003453,Antineutrophil antibody positivity,Excluded (0%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0003496,Increased circulating IgM level,Occasional (29-5%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0005202,Helicobacter pylori infection,Very frequent (99-80%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0005561,Abnormality of bone marrow cell morphology,Frequent (79-30%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0011107,Recurrent aphthous stomatitis,Occasional (29-5%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0011991,Abnormal neutrophil count,Excluded (0%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0012139,Granulocytic hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0012311,Monocytosis,Very rare (<4-1%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0012312,Monocytopenia,Occasional (29-5%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016605,Orphanet,2688,ORPHA:2688,16,HP:0031020,Bone marrow hypercellularity,Occasional (29-5%),TAS,,,,"[PMID:23771659, PMID:26066399, PMID:27841775, PMID:28732781]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0000391,Thickened helices,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0000555,Leukocoria,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0002099,Asthma,Very frequent (99-80%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0002283,Global brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0006913,Frontal cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0007968,Remnants of the hyaloid vascular system,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0008386,Aplasia/Hypoplasia of the nails,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016606,Orphanet,2714,ORPHA:2714,24,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:100893, PMID:11241490, PMID:3995792]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0000551,Color vision defect,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0000651,Diplopia,Very rare (<4-1%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0000713,Agitation,Very rare (<4-1%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0000727,Frontal lobe dementia,Very rare (<4-1%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0000735,Impaired social interactions,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0000738,Hallucinations,Frequent (79-30%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0002063,Rigidity,Very frequent (99-80%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0002067,Bradykinesia,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0004409,Hyposmia,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0012452,Restless legs,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0025269,Panic attack,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0030014,Female sexual dysfunction,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0040307,Male sexual dysfunction,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0100710,Impulsivity,Very rare (<4-1%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016610,Orphanet,2828,ORPHA:2828,34,HP:0100785,Insomnia,Occasional (29-5%),TAS,,,,"[PMID:20301792, PMID:24631501, PMID:25744440, PMID:31176633]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0000171,Microglossia,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0000480,Retinal coloboma,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0000890,Long clavicles,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0001159,Syndactyly,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0001591,Bell-shaped thorax,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0002324,Hydranencephaly,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0002414,Spina bifida,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0002938,Lumbar hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0003083,Dislocated radial head,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0003173,Hypoplastic pubic bone,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0003175,Hypoplastic ischia,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0005026,Mesomelic/rhizomelic limb shortening,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0005613,Aplasia/hypoplasia of the femur,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0005769,Fifth finger distal phalanx clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0005775,Multiple skeletal anomalies,Very frequent (99-80%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0006077,Absent proximal finger flexion creases,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0006492,Aplasia/Hypoplasia of the fibula,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0006710,Aplasia/Hypoplasia of the clavicles,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0006712,Aplasia/Hypoplasia of the ribs,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0006713,Aplasia/Hypoplasia of the scapulae,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0007633,Bilateral microphthalmos,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0008472,Prominent protruding coccyx,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0008807,Acetabular dysplasia,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0008857,Neonatal short-trunk short stature,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0009100,Thick anterior alveolar ridges,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0009937,Facial hirsutism,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016611,Orphanet,2839,ORPHA:2839,41,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,"[PMID:11146473, PMID:11146474, PMID:16025020, PMID:7103674, PMID:9732492]",y,y +GARD:0016612,Orphanet,2868,ORPHA:2868,14,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016612,Orphanet,2868,ORPHA:2868,14,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016612,Orphanet,2868,ORPHA:2868,14,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016612,Orphanet,2868,ORPHA:2868,14,HP:0000678,Dental crowding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016612,Orphanet,2868,ORPHA:2868,14,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016612,Orphanet,2868,ORPHA:2868,14,HP:0001634,Mitral valve prolapse,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016612,Orphanet,2868,ORPHA:2868,14,HP:0001642,Pulmonic stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016612,Orphanet,2868,ORPHA:2868,14,HP:0001654,Abnormal heart valve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016612,Orphanet,2868,ORPHA:2868,14,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016612,Orphanet,2868,ORPHA:2868,14,HP:0003498,Disproportionate short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016612,Orphanet,2868,ORPHA:2868,14,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016612,Orphanet,2868,ORPHA:2868,14,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016612,Orphanet,2868,ORPHA:2868,14,HP:0100729,Large face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016612,Orphanet,2868,ORPHA:2868,14,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0000474,Thickened nuchal skin fold,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0000632,Lacrimation abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0001572,Macrodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0002937,Hemivertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0002948,Vertebral fusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0003042,Elbow dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0005988,Congenital muscular torticollis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0008479,Hypoplastic vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0009906,Aplasia/Hypoplasia of the earlobes,Frequent (79-30%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0010935,Abnormality of the upper urinary tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016614,Orphanet,2916,ORPHA:2916,29,HP:0100672,Vaginal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0000010,Recurrent urinary tract infections,Frequent (79-30%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0000099,Glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0000166,Severe periodontitis,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0000230,Gingivitis,Frequent (79-30%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0000246,Sinusitis,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0000388,Otitis media,Frequent (79-30%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0000825,Hyperinsulinemic hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0001511,Intrauterine growth retardation,Very rare (<4-1%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0001894,Thrombocytosis,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0001901,Polycythemia,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0002110,Bronchiectasis,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0002586,Peritonitis,Frequent (79-30%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0002718,Recurrent bacterial infections,Very frequent (99-80%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0002841,Recurrent fungal infections,Frequent (79-30%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0003540,Impaired platelet aggregation,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0004440,Coronal craniosynostosis,Very rare (<4-1%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0004808,Acute myeloid leukemia,Very rare (<4-1%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0005528,Bone marrow hypocellularity,Frequent (79-30%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0005575,Hemolytic-uremic syndrome,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0006527,Lymphocytic interstitial pneumonia,Frequent (79-30%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0007499,Recurrent staphylococcal infections,Frequent (79-30%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0008404,Nail dystrophy,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0009098,Chronic oral candidiasis,Frequent (79-30%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0009789,Perianal abscess,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0011107,Recurrent aphthous stomatitis,Frequent (79-30%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0011110,Recurrent tonsillitis,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0011947,Respiratory tract infection,Frequent (79-30%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0011990,Abnormality of neutrophil physiology,Very frequent (99-80%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0020087,BCGosis,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0025452,Pyoderma gangrenosum,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0030683,Vaginitis,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0040238,Impaired neutrophil chemotaxis,Very frequent (99-80%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016616,Orphanet,2968,ORPHA:2968,50,HP:0500035,Nasolacrimal sac granuloma,Occasional (29-5%),TAS,,,,"[PMID:23351991, PMID:30969592]",y,y +GARD:0016617,Orphanet,2975,ORPHA:2975,12,HP:0000061,"Ambiguous genitalia, female",Obligate (100%),TAS,,,,[PMID:5042791],y,y +GARD:0016617,Orphanet,2975,ORPHA:2975,12,HP:0000063,Fused labia minora,Obligate (100%),TAS,,,,[PMID:5042791],y,y +GARD:0016617,Orphanet,2975,ORPHA:2975,12,HP:0000130,Abnormality of the uterus,Excluded (0%),TAS,,,,[PMID:5042791],y,y +GARD:0016617,Orphanet,2975,ORPHA:2975,12,HP:0000137,Abnormality of the ovary,Excluded (0%),TAS,,,,[PMID:5042791],y,y +GARD:0016617,Orphanet,2975,ORPHA:2975,12,HP:0000142,Abnormal vagina morphology,Excluded (0%),TAS,,,,[PMID:5042791],y,y +GARD:0016617,Orphanet,2975,ORPHA:2975,12,HP:0000347,Micrognathia,Obligate (100%),TAS,,,,[PMID:5042791],y,y +GARD:0016617,Orphanet,2975,ORPHA:2975,12,HP:0000786,Primary amenorrhea,Obligate (100%),TAS,,,,[PMID:5042791],y,y +GARD:0016617,Orphanet,2975,ORPHA:2975,12,HP:0003083,Dislocated radial head,Obligate (100%),TAS,,,,[PMID:5042791],y,y +GARD:0016617,Orphanet,2975,ORPHA:2975,12,HP:0003871,Deformed humerus,Obligate (100%),TAS,,,,[PMID:5042791],y,y +GARD:0016617,Orphanet,2975,ORPHA:2975,12,HP:0007628,Mandibular condyle hypoplasia,Obligate (100%),TAS,,,,[PMID:5042791],y,y +GARD:0016617,Orphanet,2975,ORPHA:2975,12,HP:0010650,Hypoplasia of the premaxilla,Obligate (100%),TAS,,,,[PMID:5042791],y,y +GARD:0016617,Orphanet,2975,ORPHA:2975,12,HP:0040253,Increased size of the clitoris,Obligate (100%),TAS,,,,[PMID:5042791],y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000176,Submucous cleft hard palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000269,Prominent occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000614,Abnormal nasolacrimal system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0003189,Long nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0004426,Abnormality of the cheek,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0005990,Thyroid hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0006695,Atrioventricular canal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0008188,Thyroid dysgenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0008191,Thyroid agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0009738,Abnormal antihelix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0012745,Short palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0100028,Ectopic thyroid,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0016618,Orphanet,3047,ORPHA:3047,43,HP:0100648,Neoplasm of the tongue,Occasional (29-5%),TAS,,,,,y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001659,Aortic regurgitation,Frequent (79-30%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001712,Left ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0004757,Paroxysmal atrial fibrillation,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0004970,Ascending tubular aorta aneurysm,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0006689,Bacterial endocarditis,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0006695,Atrioventricular canal defect,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0012764,Orthopnea,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0030950,Pulmonary venous hypertension,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0030973,Postexertional malaise,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0031664,Systolic heart murmur,Frequent (79-30%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0031668,Diastolic heart murmur,Frequent (79-30%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0032092,Left ventricular outflow tract obstruction,Frequent (79-30%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016619,Orphanet,3092,ORPHA:3092,28,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:23947905, PMID:26538250, PMID:30252341]",y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000036,Abnormal penis morphology,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000039,Epispadias,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000059,Hypoplastic labia majora,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000060,Clitoral hypoplasia,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000064,Hypoplastic labia minora,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000168,Abnormality of the gingiva,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000637,Long palpebral fissure,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000674,Anodontia,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000677,Oligodontia,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0002673,Coxa valga,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0002812,Coxa vara,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0002937,Hemivertebrae,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0003042,Elbow dislocation,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0005306,Capillary hemangioma,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0007665,Curly eyelashes,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0008402,Ridged fingernail,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0008501,Median cleft lip and palate,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0010297,Bifid tongue,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0010733,Naevus flammeus of the eyelid,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0010807,Open bite,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0012905,Euryblepharon,Frequent (79-30%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0040036,Onychogryposis of fingernail,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0100541,Femoral hernia,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016620,Orphanet,3107,ORPHA:3107,80,HP:0100798,Fingernail dysplasia,Occasional (29-5%),TAS,,,,[PMID:19918918],y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0002169,Clonus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0002445,Tetraplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0010471,Oligosacchariduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0011276,Vascular skin abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0016621,Orphanet,3137,ORPHA:3137,28,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0016622,Orphanet,3175,ORPHA:3175,7,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016622,Orphanet,3175,ORPHA:3175,7,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016622,Orphanet,3175,ORPHA:3175,7,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016622,Orphanet,3175,ORPHA:3175,7,HP:0002063,Rigidity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016622,Orphanet,3175,ORPHA:3175,7,HP:0002133,Status epilepticus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016622,Orphanet,3175,ORPHA:3175,7,HP:0002301,Hemiplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016622,Orphanet,3175,ORPHA:3175,7,HP:0003552,Muscle stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016623,Orphanet,3189,ORPHA:3189,3,HP:0001602,Laryngeal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016623,Orphanet,3189,ORPHA:3189,3,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0016623,Orphanet,3189,ORPHA:3189,3,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001019,Erythroderma,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001025,Urticaria,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001217,Clubbing,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001386,Joint swelling,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001727,Thromboembolic stroke,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001785,Ankle swelling,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001880,Eosinophilia,Very frequent (99-80%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001894,Thrombocytosis,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002113,Pulmonary infiltrates,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002583,Colitis,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002863,Myelodysplasia,Frequent (79-30%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0005115,Supraventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0005547,Myeloproliferative disorder,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0006253,Swelling of proximal interphalangeal joints,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0006580,Portal fibrosis,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0008940,Generalized lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0011123,Inflammatory abnormality of the skin,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0011897,Neutrophilia,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0011974,Myelofibrosis,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0025289,Cervical lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0030151,Cholangitis,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0030880,Raynaud phenomenon,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0031323,Myocardial eosinophilic infiltration,Frequent (79-30%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0100665,Angioedema,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0100724,Hypercoagulability,Frequent (79-30%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0200029,Vasculitis in the skin,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0200034,Papule,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0200036,Skin nodule,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016625,Orphanet,3260,ORPHA:3260,78,HP:0200123,Chronic hepatitis,Occasional (29-5%),TAS,,,,"[PMID:15772698, PMID:22740191, PMID:26475367]",y,y +GARD:0016626,Orphanet,3366,ORPHA:3366,6,HP:0000243,Trigonocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016626,Orphanet,3366,ORPHA:3366,6,HP:0000336,Prominent supraorbital ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0016626,Orphanet,3366,ORPHA:3366,6,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0016626,Orphanet,3366,ORPHA:3366,6,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016626,Orphanet,3366,ORPHA:3366,6,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0016626,Orphanet,3366,ORPHA:3366,6,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0000778,Hypoplasia of the thymus,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0000849,Adrenocortical abnormality,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0000961,Cyanosis,Very frequent (99-80%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001627,Abnormal heart morphology,Very frequent (99-80%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001649,Tachycardia,Very frequent (99-80%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001654,Abnormal heart valve morphology,Very frequent (99-80%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001659,Aortic regurgitation,Frequent (79-30%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001660,Truncus arteriosus,Obligate (100%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001667,Right ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001669,Transposition of the great arteries,Very rare (<4-1%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0004415,Pulmonary artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0004935,Pulmonary artery atresia,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0004971,Pulmonary artery hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0005301,Persistent left superior vena cava,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0006704,Abnormal coronary artery morphology,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0011611,Interrupted aortic arch,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0011640,Single coronary artery origin,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0011660,Anomalous origin of one pulmonary artery from ascending aorta,Frequent (79-30%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0012020,Right aortic arch,Frequent (79-30%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0025575,Abnormal superior vena cava morphology,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0031014,Arteria lusoria,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0031635,Anomalous origin of the left common carotid artery from the brachiocephalic artery,Very rare (<4-1%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0031653,Abnormal heart valve physiology,Very frequent (99-80%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0045060,Aplasia/hypoplasia involving bones of the extremities,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016627,Orphanet,3384,ORPHA:3384,36,HP:0100598,Pulmonary edema,Occasional (29-5%),TAS,,,,"[PMID:27262857, PMID:29977268, PMID:30596352]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0000791,Uric acid nephrolithiasis,Frequent (79-30%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0000804,Xanthine nephrolithiasis,Frequent (79-30%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0001370,Rheumatoid arthritis,Occasional (29-5%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0001997,Gout,Very rare (<4-1%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0002932,Aldehyde oxidase deficiency,Frequent (79-30%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0003040,Arthropathy,Occasional (29-5%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0003534,Reduced xanthine dehydrogenase level,Frequent (79-30%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0003537,Hypouricemia,Very frequent (99-80%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0003643,Sulfite oxidase deficiency,Frequent (79-30%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0010933,Hyperxanthinemia,Frequent (79-30%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0010934,Xanthinuria,Frequent (79-30%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0011814,Increased urinary hypoxanthine,Frequent (79-30%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0011935,Decreased urinary urate,Very frequent (99-80%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0012432,Chronic fatigue,Occasional (29-5%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0020074,Crystalluria,Frequent (79-30%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016628,Orphanet,3467,ORPHA:3467,22,HP:0030157,Flank pain,Occasional (29-5%),TAS,,,,"[PMID:25370766, PMID:29723117]",y,y +GARD:0016629,Orphanet,30925,ORPHA:30925,9,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,,y,y +GARD:0016629,Orphanet,30925,ORPHA:30925,9,HP:0000873,Diabetes insipidus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016629,Orphanet,30925,ORPHA:30925,9,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,,y,y +GARD:0016629,Orphanet,30925,ORPHA:30925,9,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0016629,Orphanet,30925,ORPHA:30925,9,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0016629,Orphanet,30925,ORPHA:30925,9,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0016629,Orphanet,30925,ORPHA:30925,9,HP:0001959,Polydipsia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016629,Orphanet,30925,ORPHA:30925,9,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0016629,Orphanet,30925,ORPHA:30925,9,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0000587,Abnormality of the optic nerve,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0001010,Hypopigmentation of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0002334,Abnormal cerebellar vermis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0003552,Muscle stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0007440,Generalized hyperpigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0007754,Macular dystrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0008059,Aplasia/Hypoplasia of the macula,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0012157,Subcortical cerebral atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016630,Orphanet,33445,ORPHA:33445,29,HP:0100308,Cerebral cortical hemiatrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,[PMID:17397529],y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,[PMID:17397529],y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:17397529],y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:17397529],y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:17397529],y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:17397529],y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,[PMID:17397529],y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,[PMID:17397529],y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0001878,Hemolytic anemia,Obligate (100%),TAS,,,,[PMID:17397529],y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0001923,Reticulocytosis,Occasional (29-5%),TAS,,,,[PMID:17397529],y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0002503,Spinocerebellar tract degeneration,Very frequent (99-80%),TAS,,,,[PMID:17397529],y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,[PMID:17397529],y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,[PMID:17397529],y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,[PMID:17397529],y,y +GARD:0016631,Orphanet,33574,ORPHA:33574,15,HP:0010522,Dyslexia,Occasional (29-5%),TAS,,,,[PMID:17397529],y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0000143,Rectovaginal fistula,Very rare (<4-1%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0000371,Acute otitis media,Occasional (29-5%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0000953,Hyperpigmentation of the skin,Very rare (<4-1%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0000988,Skin rash,Very rare (<4-1%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0001433,Hepatosplenomegaly,Very rare (<4-1%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0001531,Failure to thrive in infancy,Occasional (29-5%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0002028,Chronic diarrhea,Frequent (79-30%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0002850,Decreased circulating total IgM,Occasional (29-5%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0003347,Impaired lymphocyte transformation with phytohemagglutinin,Very frequent (99-80%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0004315,Decreased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0004429,Recurrent viral infections,Occasional (29-5%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0004798,Recurrent infection of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0005354,Lack of T cell function,Very frequent (99-80%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0005390,Recurrent opportunistic infections,Frequent (79-30%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0005403,T lymphocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0009098,Chronic oral candidiasis,Frequent (79-30%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0010976,B lymphocytopenia,Occasional (29-5%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0011837,Partial IgA deficiency,Occasional (29-5%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0031381,Decreased lymphocyte proliferation in response to mitogen,Very frequent (99-80%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0040219,Absent natural killer cells,Frequent (79-30%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016632,Orphanet,35078,ORPHA:35078,25,HP:0200039,Pustule,Occasional (29-5%),TAS,,,,"[PMID:11668610, PMID:14615376, PMID:26769277, PMID:30778343]",y,y +GARD:0016633,Orphanet,35093,ORPHA:35093,4,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016633,Orphanet,35093,ORPHA:35093,4,HP:0000269,Prominent occiput,Occasional (29-5%),TAS,,,,,y,y +GARD:0016633,Orphanet,35093,ORPHA:35093,4,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0016633,Orphanet,35093,ORPHA:35093,4,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,,y,y +GARD:0016634,Orphanet,35099,ORPHA:35099,11,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016634,Orphanet,35099,ORPHA:35099,11,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0016634,Orphanet,35099,ORPHA:35099,11,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016634,Orphanet,35099,ORPHA:35099,11,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0016634,Orphanet,35099,ORPHA:35099,11,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016634,Orphanet,35099,ORPHA:35099,11,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016634,Orphanet,35099,ORPHA:35099,11,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0016634,Orphanet,35099,ORPHA:35099,11,HP:0002516,Increased intracranial pressure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016634,Orphanet,35099,ORPHA:35099,11,HP:0009701,Metacarpal synostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016634,Orphanet,35099,ORPHA:35099,11,HP:0009891,Underdeveloped supraorbital ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0016634,Orphanet,35099,ORPHA:35099,11,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0016637,Orphanet,35612,ORPHA:35612,6,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016637,Orphanet,35612,ORPHA:35612,6,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016637,Orphanet,35612,ORPHA:35612,6,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016637,Orphanet,35612,ORPHA:35612,6,HP:0000610,Abnormal choroid morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016637,Orphanet,35612,ORPHA:35612,6,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0016637,Orphanet,35612,ORPHA:35612,6,HP:0008499,High hypermetropia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016638,Orphanet,35664,ORPHA:35664,5,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016638,Orphanet,35664,ORPHA:35664,5,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016638,Orphanet,35664,ORPHA:35664,5,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016638,Orphanet,35664,ORPHA:35664,5,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016638,Orphanet,35664,ORPHA:35664,5,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0000132,Menorrhagia,Occasional (29-5%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0000225,Gingival bleeding,Frequent (79-30%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0002149,Hyperuricemia,Very rare (<4-1%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0003077,Hyperlipidemia,Very rare (<4-1%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0003125,Reduced factor VIII activity,Very frequent (99-80%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0003225,Reduced coagulation factor V activity,Very frequent (99-80%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0003645,Prolonged partial thromboplastin time,Very frequent (99-80%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0004846,Prolonged bleeding after surgery,Occasional (29-5%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0005261,Joint hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0006298,Prolonged bleeding after dental extraction,Frequent (79-30%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0008151,Prolonged prothrombin time,Very frequent (99-80%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0011889,Bleeding with minor or no trauma,Frequent (79-30%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016639,Orphanet,35909,ORPHA:35909,18,HP:0030137,Prolonged bleeding following circumcision,Frequent (79-30%),TAS,,,,"[PMID:23852824, PMID:26599105, PMID:27894217, PMID:29896340, PMID:31558466]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016640,Orphanet,36367,ORPHA:36367,15,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,"[PMID:2137964, PMID:22186213, PMID:25728055, PMID:3703649]",y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0001188,Hand clenching,Occasional (29-5%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0002172,Postural instability,Very frequent (99-80%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0002315,Headache,Frequent (79-30%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0002370,Poor coordination,Very frequent (99-80%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0002411,Myokymia,Very frequent (99-80%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0002486,Myotonia,Occasional (29-5%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0005461,Craniofacial disproportion,Occasional (29-5%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0008981,Calf muscle hypertrophy,Occasional (29-5%),TAS,,,,[PMID:20301785],y,y +GARD:0016641,Orphanet,37612,ORPHA:37612,27,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,[PMID:20301785],y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0000155,Oral ulcer,Frequent (79-30%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0000211,Trismus,Very rare (<4-1%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0000633,Decreased lacrimation,Very rare (<4-1%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0001508,Failure to thrive,Very rare (<4-1%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0002113,Pulmonary infiltrates,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0002716,Lymphadenopathy,Very rare (<4-1%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0002904,Hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0002996,Limited elbow movement,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0003155,Elevated circulating alkaline phosphatase concentration,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0004386,Gastrointestinal inflammation,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0005198,Stiff interphalangeal joints,Very rare (<4-1%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0005679,Dupuytren contracture,Very rare (<4-1%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0006467,Limited shoulder movement,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0009125,Lipodystrophy,Very rare (<4-1%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0010280,Stomatitis,Frequent (79-30%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0011123,Inflammatory abnormality of the skin,Very frequent (99-80%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0012156,Hemophagocytosis,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0031123,Recurrent gastroenteritis,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0031359,Cutaneous sclerotic plaque,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0031452,Lichenoid skin lesion,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0040186,Maculopapular exanthema,Frequent (79-30%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0100533,Inflammatory abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0100537,Fasciitis,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0100614,Myositis,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0200041,Skin erosion,Frequent (79-30%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0200119,Acute hepatitis,Occasional (29-5%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016642,Orphanet,39812,ORPHA:39812,41,HP:0200123,Chronic hepatitis,Frequent (79-30%),TAS,,,,"[PMID:30106904, PMID:30855823, PMID:31042160, PMID:31058026, PMID:31075084, PMID:31089279, PMID:31089281]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0000121,Nephrocalcinosis,Very rare (<4-1%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0000585,Band keratopathy,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0000589,Coloboma,Very rare (<4-1%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0001530,Mild postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0001682,Subvalvular aortic stenosis,Very rare (<4-1%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0002150,Hypercalciuria,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0002900,Hypokalemia,Frequent (79-30%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0003076,Glycosuria,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0003109,Hyperphosphaturia,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0003126,Low-molecular-weight proteinuria,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0003149,Hyperuricosuria,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0003355,Aminoaciduria,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0003646,Bicarbonaturia,Frequent (79-30%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0004322,Short stature,Very rare (<4-1%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0004910,Bicarbonate-wasting renal tubular acidosis,Very frequent (99-80%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0004918,Hyperchloremic metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0006285,Enamel hypomineralization,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0011106,Hypovolemia,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0012573,Global proximal tubulopathy,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016644,Orphanet,47159,ORPHA:47159,34,HP:0012605,Hypernatriuria,Occasional (29-5%),TAS,,,,"[PMID:23235953, PMID:28092281, PMID:30139461, PMID:31300090]",y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0000763,Sensory neuropathy,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0001310,Dysmetria,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0002080,Intention tremor,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0003134,Abnormality of peripheral nerve conduction,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0003319,Abnormality of the cervical spine,Frequent (79-30%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0007002,Motor axonal neuropathy,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0008942,Acute rhabdomyolysis,Frequent (79-30%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0010620,Malar prominence,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016645,Orphanet,48431,ORPHA:48431,30,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,[PMID:16939648],y,y +GARD:0016646,Orphanet,50811,ORPHA:50811,13,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0016646,Orphanet,50811,ORPHA:50811,13,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0016646,Orphanet,50811,ORPHA:50811,13,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0016646,Orphanet,50811,ORPHA:50811,13,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0016646,Orphanet,50811,ORPHA:50811,13,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0016646,Orphanet,50811,ORPHA:50811,13,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0016646,Orphanet,50811,ORPHA:50811,13,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0016646,Orphanet,50811,ORPHA:50811,13,HP:0001533,Slender build,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0016646,Orphanet,50811,ORPHA:50811,13,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0016646,Orphanet,50811,ORPHA:50811,13,HP:0004993,Slender long bones with narrow diaphyses,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0016646,Orphanet,50811,ORPHA:50811,13,HP:0005328,Progeroid facial appearance,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0016646,Orphanet,50811,ORPHA:50811,13,HP:0009064,Generalized lipodystrophy,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0016646,Orphanet,50811,ORPHA:50811,13,HP:0100959,Dense metaphyseal bands,Very frequent (99-80%),TAS,,,,[PMID:12923870],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000218,High palate,Occasional (29-5%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000336,Prominent supraorbital ridges,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000685,Hypoplasia of teeth,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000691,Microdontia,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0002208,Coarse hair,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0002299,Brittle hair,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0004331,Decreased skull ossification,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0005306,Capillary hemangioma,Frequent (79-30%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0006480,Premature loss of teeth,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0008031,Posterior Y-sutural cataract,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0008444,Posterior wedging of vertebral bodies,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016647,Orphanet,50814,ORPHA:50814,34,HP:0008808,High iliac wing,Very frequent (99-80%),TAS,,,,[PMID:12677423],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0000377,Abnormal pinna morphology,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0000384,Preauricular skin tag,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0000396,Overfolded helix,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0000410,Mixed hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0000483,Astigmatism,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0004452,Abnormality of the middle ear ossicles,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0004467,Preauricular pit,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0007427,Reticulated skin pigmentation,Frequent (79-30%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0008774,Aplasia/Hypoplasia of the inner ear,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0009795,Branchial fistula,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0009796,Branchial cyst,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0009839,Osteolytic defects of the distal phalanges of the hand,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016648,Orphanet,50815,ORPHA:50815,21,HP:0011272,Underdeveloped tragus,Very frequent (99-80%),TAS,,,,[PMID:12833414],y,y +GARD:0016649,Orphanet,50944,ORPHA:50944,12,HP:0000320,Bird-like facies,Occasional (29-5%),TAS,,,,,y,y +GARD:0016649,Orphanet,50944,ORPHA:50944,12,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016649,Orphanet,50944,ORPHA:50944,12,HP:0000968,Ectodermal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016649,Orphanet,50944,ORPHA:50944,12,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016649,Orphanet,50944,ORPHA:50944,12,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016649,Orphanet,50944,ORPHA:50944,12,HP:0002671,Basal cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0016649,Orphanet,50944,ORPHA:50944,12,HP:0002860,Squamous cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0016649,Orphanet,50944,ORPHA:50944,12,HP:0006323,Premature loss of primary teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0016649,Orphanet,50944,ORPHA:50944,12,HP:0007380,Facial telangiectasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016649,Orphanet,50944,ORPHA:50944,12,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016649,Orphanet,50944,ORPHA:50944,12,HP:0100615,Ovarian neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0016649,Orphanet,50944,ORPHA:50944,12,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0016650,Orphanet,51083,ORPHA:51083,9,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:11173780, PMID:12925462, PMID:14676148, PMID:15159330, PMID:15890322, PMID:24818999]",y,y +GARD:0016650,Orphanet,51083,ORPHA:51083,9,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,"[PMID:11173780, PMID:12925462, PMID:14676148, PMID:15159330, PMID:15890322, PMID:24818999]",y,y +GARD:0016650,Orphanet,51083,ORPHA:51083,9,HP:0001662,Bradycardia,Very frequent (99-80%),TAS,,,,"[PMID:11173780, PMID:12925462, PMID:14676148, PMID:15159330, PMID:15890322, PMID:24818999]",y,y +GARD:0016650,Orphanet,51083,ORPHA:51083,9,HP:0001663,Ventricular fibrillation,Occasional (29-5%),TAS,,,,"[PMID:11173780, PMID:12925462, PMID:14676148, PMID:15159330, PMID:15890322, PMID:24818999]",y,y +GARD:0016650,Orphanet,51083,ORPHA:51083,9,HP:0001678,Atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:11173780, PMID:12925462, PMID:14676148, PMID:15159330, PMID:15890322, PMID:24818999]",y,y +GARD:0016650,Orphanet,51083,ORPHA:51083,9,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:11173780, PMID:12925462, PMID:14676148, PMID:15159330, PMID:15890322, PMID:24818999]",y,y +GARD:0016650,Orphanet,51083,ORPHA:51083,9,HP:0004308,Ventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:11173780, PMID:12925462, PMID:14676148, PMID:15159330, PMID:15890322, PMID:24818999]",y,y +GARD:0016650,Orphanet,51083,ORPHA:51083,9,HP:0005110,Atrial fibrillation,Frequent (79-30%),TAS,,,,"[PMID:11173780, PMID:12925462, PMID:14676148, PMID:15159330, PMID:15890322, PMID:24818999]",y,y +GARD:0016650,Orphanet,51083,ORPHA:51083,9,HP:0012232,Shortened QT interval,Obligate (100%),TAS,,,,"[PMID:11173780, PMID:12925462, PMID:14676148, PMID:15159330, PMID:15890322, PMID:24818999]",y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0000122,Unilateral renal agenesis,Frequent (79-30%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0000396,Overfolded helix,Very frequent (99-80%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0000592,Blue sclerae,Very frequent (99-80%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0000921,Missing ribs,Very frequent (99-80%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0001177,Preaxial hand polydactyly,Frequent (79-30%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0002092,Pulmonary arterial hypertension,Very frequent (99-80%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0002206,Pulmonary fibrosis,Very frequent (99-80%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0002937,Hemivertebrae,Very frequent (99-80%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0005950,Laryngeal web,Very frequent (99-80%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0005988,Congenital muscular torticollis,Frequent (79-30%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,[PMID:14556254],y,y +GARD:0016652,Orphanet,52047,ORPHA:52047,24,HP:0010720,Abnormal hair pattern,Frequent (79-30%),TAS,,,,[PMID:14556254],y,y +GARD:0016654,Orphanet,52056,ORPHA:52056,12,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0016654,Orphanet,52056,ORPHA:52056,12,HP:0001028,Hemangioma,Occasional (29-5%),TAS,,,,,y,y +GARD:0016654,Orphanet,52056,ORPHA:52056,12,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016654,Orphanet,52056,ORPHA:52056,12,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016654,Orphanet,52056,ORPHA:52056,12,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0016654,Orphanet,52056,ORPHA:52056,12,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016654,Orphanet,52056,ORPHA:52056,12,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,,y,y +GARD:0016654,Orphanet,52056,ORPHA:52056,12,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0016654,Orphanet,52056,ORPHA:52056,12,HP:0006210,Postaxial oligodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016654,Orphanet,52056,ORPHA:52056,12,HP:0006492,Aplasia/Hypoplasia of the fibula,Frequent (79-30%),TAS,,,,,y,y +GARD:0016654,Orphanet,52056,ORPHA:52056,12,HP:0006495,Aplasia/Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0016654,Orphanet,52056,ORPHA:52056,12,HP:0009237,Short 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0000529,Progressive visual loss,Very frequent (99-80%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0000580,Pigmentary retinopathy,Very rare (<4-1%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0000603,Central scotoma,Frequent (79-30%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0000662,Nyctalopia,Very frequent (99-80%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0001105,Retinal atrophy,Occasional (29-5%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0001142,Lenticonus,Occasional (29-5%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0007401,Macular atrophy,Occasional (29-5%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0007675,Progressive night blindness,Frequent (79-30%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0007814,Retinal pigment epithelial mottling,Frequent (79-30%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0007843,Attenuation of retinal blood vessels,Frequent (79-30%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0007987,Progressive visual field defects,Frequent (79-30%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0007994,Peripheral visual field loss,Frequent (79-30%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0008323,Abnormal light- and dark-adapted electroretinogram,Very frequent (99-80%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0008527,Congenital sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0011505,Cystoid macular edema,Occasional (29-5%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0030506,Yellow/white lesions of the retina,Very frequent (99-80%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0030825,Absent foveal reflex,Very frequent (99-80%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016655,Orphanet,52427,ORPHA:52427,19,HP:0031605,Abnormality of fundus pigmentation,Occasional (29-5%),TAS,,,,"[PMID:14718298, PMID:23929416, PMID:28764803]",y,y +GARD:0016656,Orphanet,53583,ORPHA:53583,13,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:21832227, PMID:8808284]",y,y +GARD:0016656,Orphanet,53583,ORPHA:53583,13,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:21832227, PMID:8808284]",y,y +GARD:0016656,Orphanet,53583,ORPHA:53583,13,HP:0001258,Spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:21832227, PMID:8808284]",y,y +GARD:0016656,Orphanet,53583,ORPHA:53583,13,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:21832227, PMID:8808284]",y,y +GARD:0016656,Orphanet,53583,ORPHA:53583,13,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:21832227, PMID:8808284]",y,y +GARD:0016656,Orphanet,53583,ORPHA:53583,13,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:21832227, PMID:8808284]",y,y +GARD:0016656,Orphanet,53583,ORPHA:53583,13,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:21832227, PMID:8808284]",y,y +GARD:0016656,Orphanet,53583,ORPHA:53583,13,HP:0002069,Bilateral tonic-clonic seizure,Very rare (<4-1%),TAS,,,,"[PMID:20482602, PMID:21832227, PMID:8808284]",y,y +GARD:0016656,Orphanet,53583,ORPHA:53583,13,HP:0002131,Episodic ataxia,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:21832227, PMID:8808284]",y,y +GARD:0016656,Orphanet,53583,ORPHA:53583,13,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:21832227, PMID:8808284]",y,y +GARD:0016656,Orphanet,53583,ORPHA:53583,13,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:21832227, PMID:8808284]",y,y +GARD:0016656,Orphanet,53583,ORPHA:53583,13,HP:0007166,Paroxysmal dyskinesia,Very frequent (99-80%),TAS,,,,"[PMID:20482602, PMID:21832227, PMID:8808284]",y,y +GARD:0016656,Orphanet,53583,ORPHA:53583,13,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:20482602, PMID:21832227, PMID:8808284]",y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0001259,Coma,Frequent (79-30%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0001297,Stroke,Frequent (79-30%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0001919,Acute kidney injury,Very rare (<4-1%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0001923,Reticulocytosis,Very frequent (99-80%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0001937,Microangiopathic hemolytic anemia,Very frequent (99-80%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0001945,Fever,Occasional (29-5%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0002315,Headache,Frequent (79-30%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0003324,Generalized muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0012101,Decreased serum creatinine,Very rare (<4-1%),TAS,,,,[PMID:28416507],y,y +GARD:0016659,Orphanet,54057,ORPHA:54057,22,HP:0045040,Abnormal lactate dehydrogenase level,Frequent (79-30%),TAS,,,,[PMID:28416507],y,y +GARD:0016660,Orphanet,55881,ORPHA:55881,3,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0016660,Orphanet,55881,ORPHA:55881,3,HP:0002756,Pathologic fracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0016660,Orphanet,55881,ORPHA:55881,3,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0002344,Progressive neurologic deterioration,Frequent (79-30%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0007305,CNS demyelination,Frequent (79-30%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0011448,Ankle clonus,Occasional (29-5%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0012229,CSF pleocytosis,Occasional (29-5%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016661,Orphanet,59298,ORPHA:59298,19,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:28427702, PMID:30212769, PMID:30819213]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0000894,Short clavicles,Very rare (<4-1%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0000932,Abnormal posterior cranial fossa morphology,Occasional (29-5%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0001363,Craniosynostosis,Very rare (<4-1%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0002085,Occipital encephalocele,Very rare (<4-1%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0002475,Myelomeningocele,Very rare (<4-1%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0002695,"Symmetrical, oval parietal bone defects",Very frequent (99-80%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0002762,Multiple exostoses,Very rare (<4-1%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0007385,Aplasia cutis congenita of scalp,Very rare (<4-1%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0008497,Congenital craniofacial dysostosis,Very rare (<4-1%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0011304,Broad thumb,Very rare (<4-1%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0012480,Abnormal cerebral vein morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0012721,Venous malformation,Occasional (29-5%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0040197,Encephalomalacia,Very rare (<4-1%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0100809,Scalp tenderness,Occasional (29-5%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016662,Orphanet,60015,ORPHA:60015,20,HP:0410030,Cleft lip,Very rare (<4-1%),TAS,,,,"[PMID:20301307, PMID:23207976, PMID:25253662, PMID:27975139]",y,y +GARD:0016663,Orphanet,60026,ORPHA:60026,10,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:28609772, PMID:29902913, PMID:30720334]",y,y +GARD:0016663,Orphanet,60026,ORPHA:60026,10,HP:0002721,Immunodeficiency,Very rare (<4-1%),TAS,,,,"[PMID:28609772, PMID:29902913, PMID:30720334]",y,y +GARD:0016663,Orphanet,60026,ORPHA:60026,10,HP:0002729,Follicular hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:28609772, PMID:29902913, PMID:30720334]",y,y +GARD:0016663,Orphanet,60026,ORPHA:60026,10,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:28609772, PMID:29902913, PMID:30720334]",y,y +GARD:0016663,Orphanet,60026,ORPHA:60026,10,HP:0025179,Ground-glass opacification,Occasional (29-5%),TAS,,,,"[PMID:28609772, PMID:29902913, PMID:30720334]",y,y +GARD:0016663,Orphanet,60026,ORPHA:60026,10,HP:0025392,Nodular pattern on pulmonary HRCT,Frequent (79-30%),TAS,,,,"[PMID:28609772, PMID:29902913, PMID:30720334]",y,y +GARD:0016663,Orphanet,60026,ORPHA:60026,10,HP:0030057,Autoimmune antibody positivity,Very rare (<4-1%),TAS,,,,"[PMID:28609772, PMID:29902913, PMID:30720334]",y,y +GARD:0016663,Orphanet,60026,ORPHA:60026,10,HP:0030150,Plasmacytosis,Frequent (79-30%),TAS,,,,"[PMID:28609772, PMID:29902913, PMID:30720334]",y,y +GARD:0016663,Orphanet,60026,ORPHA:60026,10,HP:0100721,Mediastinal lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:28609772, PMID:29902913, PMID:30720334]",y,y +GARD:0016663,Orphanet,60026,ORPHA:60026,10,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:28609772, PMID:29902913, PMID:30720334]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0001217,Clubbing,Very rare (<4-1%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0002097,Emphysema,Occasional (29-5%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0002105,Hemoptysis,Frequent (79-30%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0002110,Bronchiectasis,Obligate (100%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0002783,Recurrent lower respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0002795,Abnormal respiratory system physiology,Very frequent (99-80%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0005376,Recurrent Haemophilus influenzae infections,Frequent (79-30%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0011947,Respiratory tract infection,Very frequent (99-80%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0011949,Acute infectious pneumonia,Occasional (29-5%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0030828,Wheezing,Frequent (79-30%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0030830,Crackles,Frequent (79-30%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0030877,Reduced FEV1/FVC ratio,Frequent (79-30%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0031245,Productive cough,Very frequent (99-80%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016664,Orphanet,60033,ORPHA:60033,19,HP:0100812,Halitosis,Occasional (29-5%),TAS,,,,"[PMID:28630359, PMID:29247616, PMID:31086836]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0002015,Dysphagia,Excluded (0%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0002141,Gait imbalance,Frequent (79-30%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0002540,Inability to walk,Very frequent (99-80%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0002600,Hyporeflexia of lower limbs,Very frequent (99-80%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0002747,Respiratory insufficiency due to muscle weakness,Excluded (0%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0003474,Somatic sensory dysfunction,Excluded (0%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0003738,Exercise-induced myalgia,Very frequent (99-80%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0006135,Decreased finger mobility,Occasional (29-5%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0006389,Limited knee flexion,Frequent (79-30%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0008954,Intrinsic hand muscle atrophy,Very frequent (99-80%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0008959,Distal upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0008994,Proximal muscle weakness in lower limbs,Occasional (29-5%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0012515,Hip flexor weakness,Frequent (79-30%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0030200,Fatiguable weakness of proximal limb muscles,Occasional (29-5%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0030319,Weakness of facial musculature,Occasional (29-5%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016666,Orphanet,63273,ORPHA:63273,22,HP:0031177,Finger flexor weakness,Frequent (79-30%),TAS,,,,"[PMID:15824355, PMID:21620354]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0000020,Urinary incontinence,Very rare (<4-1%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0002883,Hyperventilation,Occasional (29-5%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0006961,Jerky head movements,Very rare (<4-1%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0007738,Uncontrolled eye movements,Occasional (29-5%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0010522,Dyslexia,Occasional (29-5%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0010794,Impaired visuospatial constructive cognition,Occasional (29-5%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0010848,EEG with spike-wave complexes (2.5-3.5 Hz),Very frequent (99-80%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0011147,Typical absence seizure,Very frequent (99-80%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0011150,Myoclonic absence seizure,Occasional (29-5%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0012433,Abnormal social behavior,Occasional (29-5%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0030218,Punding,Occasional (29-5%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0031469,Low self esteem,Occasional (29-5%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016667,Orphanet,64280,ORPHA:64280,21,HP:0045084,Limb myoclonus,Very rare (<4-1%),TAS,,,,"[PMID:11326275, PMID:24530152, PMID:2502382, PMID:27683026]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0000138,Ovarian cyst,Frequent (79-30%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0001007,Hirsutism,Very frequent (99-80%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0001541,Ascites,Very frequent (99-80%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0002018,Nausea,Very frequent (99-80%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0002202,Pleural effusion,Frequent (79-30%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0007430,Generalized edema,Occasional (29-5%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0008675,Enlarged polycystic ovaries,Very frequent (99-80%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0011106,Hypovolemia,Occasional (29-5%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0012398,Peripheral edema,Occasional (29-5%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0012886,Hemorrhagic ovarian cyst,Frequent (79-30%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0030005,Capillary leak,Very frequent (99-80%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0030088,Increased serum testosterone level,Very frequent (99-80%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016668,Orphanet,64739,ORPHA:64739,17,HP:0100598,Pulmonary edema,Occasional (29-5%),TAS,,,,"[PMID:12498425, PMID:12930924, PMID:12930927, PMID:12930928, PMID:16679690, PMID:17721928]",y,y +GARD:0016670,Orphanet,65288,ORPHA:65288,7,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,[PMID:15543146],y,y +GARD:0016670,Orphanet,65288,ORPHA:65288,7,HP:0000331,Short chin,Very frequent (99-80%),TAS,,,,[PMID:15543146],y,y +GARD:0016670,Orphanet,65288,ORPHA:65288,7,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:15543146],y,y +GARD:0016670,Orphanet,65288,ORPHA:65288,7,HP:0000609,Optic nerve hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:15543146],y,y +GARD:0016670,Orphanet,65288,ORPHA:65288,7,HP:0000857,Neonatal insulin-dependent diabetes mellitus,Very frequent (99-80%),TAS,,,,[PMID:15543146],y,y +GARD:0016670,Orphanet,65288,ORPHA:65288,7,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:15543146],y,y +GARD:0016670,Orphanet,65288,ORPHA:65288,7,HP:0100800,Aplasia/Hypoplasia of the pancreas,Frequent (79-30%),TAS,,,,[PMID:15543146],y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0002361,Psychomotor deterioration,Very frequent (99-80%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0002384,Focal impaired awareness seizure,Frequent (79-30%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0002536,Abnormal cortical gyration,Frequent (79-30%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0006891,Thick cerebral cortex,Frequent (79-30%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0007334,Bilateral tonic-clonic seizure with focal onset,Occasional (29-5%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0011097,Epileptic spasm,Occasional (29-5%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0012757,Abnormal neuron morphology,Very frequent (99-80%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0025170,Neuronal/glioneuronal neoplasm of the central nervous system,Occasional (29-5%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0031951,Nocturnal seizures,Frequent (79-30%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016671,Orphanet,65683,ORPHA:65683,21,HP:0410263,Brain imaging abnormality,Very frequent (99-80%),TAS,,,,"[PMID:15642904, PMID:27864929, PMID:28025990, PMID:31835056]",y,y +GARD:0016673,Orphanet,66630,ORPHA:66630,6,HP:0000891,Cervical ribs,Occasional (29-5%),TAS,,,,,y,y +GARD:0016673,Orphanet,66630,ORPHA:66630,6,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016673,Orphanet,66630,ORPHA:66630,6,HP:0001651,Dextrocardia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016673,Orphanet,66630,ORPHA:66630,6,HP:0001696,Situs inversus totalis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016673,Orphanet,66630,ORPHA:66630,6,HP:0002758,Osteoarthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016673,Orphanet,66630,ORPHA:66630,6,HP:0006585,Congenital pseudoarthrosis of the clavicle,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016674,Orphanet,66637,ORPHA:66637,11,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0016674,Orphanet,66637,ORPHA:66637,11,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016674,Orphanet,66637,ORPHA:66637,11,HP:0000921,Missing ribs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016674,Orphanet,66637,ORPHA:66637,11,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016674,Orphanet,66637,ORPHA:66637,11,HP:0002475,Myelomeningocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016674,Orphanet,66637,ORPHA:66637,11,HP:0003275,Narrow pelvis bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016674,Orphanet,66637,ORPHA:66637,11,HP:0004599,Absent or minimally ossified vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016674,Orphanet,66637,ORPHA:66637,11,HP:0005562,Multiple renal cysts,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016674,Orphanet,66637,ORPHA:66637,11,HP:0005640,Abnormal vertebral segmentation and fusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016674,Orphanet,66637,ORPHA:66637,11,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016674,Orphanet,66637,ORPHA:66637,11,HP:0100625,Enlarged thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016675,Orphanet,67041,ORPHA:67041,2,HP:0003170,Abnormal acetabulum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016675,Orphanet,67041,ORPHA:67041,2,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016676,Orphanet,67044,ORPHA:67044,9,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:10700180, PMID:11809723]",y,y +GARD:0016676,Orphanet,67044,ORPHA:67044,9,HP:0001931,Hypochromic anemia,Very frequent (99-80%),TAS,,,,"[PMID:10700180, PMID:11809723]",y,y +GARD:0016676,Orphanet,67044,ORPHA:67044,9,HP:0004447,Poikilocytosis,Very frequent (99-80%),TAS,,,,"[PMID:10700180, PMID:11809723]",y,y +GARD:0016676,Orphanet,67044,ORPHA:67044,9,HP:0010972,Anemia of inadequate production,Very frequent (99-80%),TAS,,,,"[PMID:10700180, PMID:11809723]",y,y +GARD:0016676,Orphanet,67044,ORPHA:67044,9,HP:0011273,Anisocytosis,Very frequent (99-80%),TAS,,,,"[PMID:10700180, PMID:11809723]",y,y +GARD:0016676,Orphanet,67044,ORPHA:67044,9,HP:0012143,Abnormal megakaryocyte morphology,Very frequent (99-80%),TAS,,,,"[PMID:10700180, PMID:11809723]",y,y +GARD:0016676,Orphanet,67044,ORPHA:67044,9,HP:0012145,Abnormality of multiple cell lineages in the bone marrow,Very frequent (99-80%),TAS,,,,"[PMID:10700180, PMID:11809723]",y,y +GARD:0016676,Orphanet,67044,ORPHA:67044,9,HP:0040185,Macrothrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:10700180, PMID:11809723]",y,y +GARD:0016676,Orphanet,67044,ORPHA:67044,9,HP:0045040,Abnormal lactate dehydrogenase level,Very frequent (99-80%),TAS,,,,"[PMID:10700180, PMID:11809723]",y,y +GARD:0016677,Orphanet,67045,ORPHA:67045,14,HP:0000570,Abnormal saccadic eye movements,Occasional (29-5%),TAS,,,,"[PMID:20852587, PMID:25402377, PMID:27974184, PMID:30266296, PMID:8826446]",y,y +GARD:0016677,Orphanet,67045,ORPHA:67045,14,HP:0000657,Oculomotor apraxia,Occasional (29-5%),TAS,,,,"[PMID:20852587, PMID:25402377, PMID:27974184, PMID:30266296, PMID:8826446]",y,y +GARD:0016677,Orphanet,67045,ORPHA:67045,14,HP:0000824,Decreased response to growth hormone stimulation test,Very frequent (99-80%),TAS,,,,"[PMID:20852587, PMID:25402377, PMID:27974184, PMID:30266296, PMID:8826446]",y,y +GARD:0016677,Orphanet,67045,ORPHA:67045,14,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20852587, PMID:25402377, PMID:27974184, PMID:30266296, PMID:8826446]",y,y +GARD:0016677,Orphanet,67045,ORPHA:67045,14,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20852587, PMID:25402377, PMID:27974184, PMID:30266296, PMID:8826446]",y,y +GARD:0016677,Orphanet,67045,ORPHA:67045,14,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:20852587, PMID:25402377, PMID:27974184, PMID:30266296, PMID:8826446]",y,y +GARD:0016677,Orphanet,67045,ORPHA:67045,14,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20852587, PMID:25402377, PMID:27974184, PMID:30266296, PMID:8826446]",y,y +GARD:0016677,Orphanet,67045,ORPHA:67045,14,HP:0007979,Gaze-evoked horizontal nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20852587, PMID:25402377, PMID:27974184, PMID:30266296, PMID:8826446]",y,y +GARD:0016677,Orphanet,67045,ORPHA:67045,14,HP:0010627,Anterior pituitary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20852587, PMID:25402377, PMID:27974184, PMID:30266296, PMID:8826446]",y,y +GARD:0016677,Orphanet,67045,ORPHA:67045,14,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20852587, PMID:25402377, PMID:27974184, PMID:30266296, PMID:8826446]",y,y +GARD:0016677,Orphanet,67045,ORPHA:67045,14,HP:0011755,Ectopic posterior pituitary,Occasional (29-5%),TAS,,,,"[PMID:20852587, PMID:25402377, PMID:27974184, PMID:30266296, PMID:8826446]",y,y +GARD:0016677,Orphanet,67045,ORPHA:67045,14,HP:0012447,Abnormal myelination,Occasional (29-5%),TAS,,,,"[PMID:20852587, PMID:25402377, PMID:27974184, PMID:30266296, PMID:8826446]",y,y +GARD:0016677,Orphanet,67045,ORPHA:67045,14,HP:0030353,Decreased serum insulin-like growth factor 1,Very frequent (99-80%),TAS,,,,"[PMID:20852587, PMID:25402377, PMID:27974184, PMID:30266296, PMID:8826446]",y,y +GARD:0016677,Orphanet,67045,ORPHA:67045,14,HP:0040010,Small posterior fossa,Occasional (29-5%),TAS,,,,"[PMID:20852587, PMID:25402377, PMID:27974184, PMID:30266296, PMID:8826446]",y,y +GARD:0016678,Orphanet,69061,ORPHA:69061,2,HP:0000100,Nephrotic syndrome,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016678,Orphanet,69061,ORPHA:69061,2,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016682,Orphanet,69125,ORPHA:69125,13,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,[PMID:1156563],y,y +GARD:0016682,Orphanet,69125,ORPHA:69125,13,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,[PMID:1156563],y,y +GARD:0016682,Orphanet,69125,ORPHA:69125,13,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,[PMID:1156563],y,y +GARD:0016682,Orphanet,69125,ORPHA:69125,13,HP:0001034,Hypermelanotic macule,Very frequent (99-80%),TAS,,,,[PMID:1156563],y,y +GARD:0016682,Orphanet,69125,ORPHA:69125,13,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,[PMID:1156563],y,y +GARD:0016682,Orphanet,69125,ORPHA:69125,13,HP:0001798,Anonychia,Very frequent (99-80%),TAS,,,,[PMID:1156563],y,y +GARD:0016682,Orphanet,69125,ORPHA:69125,13,HP:0002293,Alopecia of scalp,Very frequent (99-80%),TAS,,,,[PMID:1156563],y,y +GARD:0016682,Orphanet,69125,ORPHA:69125,13,HP:0004404,Abnormal nipple morphology,Very frequent (99-80%),TAS,,,,[PMID:1156563],y,y +GARD:0016682,Orphanet,69125,ORPHA:69125,13,HP:0007471,Axillary and groin hyperpigmentation and hypopigmentation,Very frequent (99-80%),TAS,,,,[PMID:1156563],y,y +GARD:0016682,Orphanet,69125,ORPHA:69125,13,HP:0007502,Follicular hyperkeratosis,Very frequent (99-80%),TAS,,,,[PMID:1156563],y,y +GARD:0016682,Orphanet,69125,ORPHA:69125,13,HP:0030503,Macular telangiectasia,Very frequent (99-80%),TAS,,,,[PMID:1156563],y,y +GARD:0016682,Orphanet,69125,ORPHA:69125,13,HP:0040211,Abnormal skin morphology of the palm,Very frequent (99-80%),TAS,,,,[PMID:1156563],y,y +GARD:0016682,Orphanet,69125,ORPHA:69125,13,HP:0100872,Abnormality of the plantar skin of foot,Very frequent (99-80%),TAS,,,,[PMID:1156563],y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0000819,Diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0001081,Cholelithiasis,Frequent (79-30%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0001082,Cholecystitis,Occasional (29-5%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0001402,Hepatocellular carcinoma,Occasional (29-5%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0001406,Intrahepatic cholestasis,Very frequent (99-80%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0002613,Biliary cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0002896,Neoplasm of the liver,Occasional (29-5%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0003124,Hypercholesterolemia,Occasional (29-5%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0005230,Biliary tract obstruction,Occasional (29-5%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0011848,Abdominal colic,Very frequent (99-80%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0025502,Overweight,Frequent (79-30%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0030151,Cholangitis,Occasional (29-5%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0030948,Elevated gamma-glutamyltransferase level,Frequent (79-30%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0030991,Sclerosing cholangitis,Very rare (<4-1%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016683,Orphanet,69663,ORPHA:69663,19,HP:0100523,Liver abscess,Very rare (<4-1%),TAS,,,,"[PMID:30922600, PMID:33554096]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0000091,Abnormal renal tubule morphology,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0000570,Abnormal saccadic eye movements,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0000998,Hypertrichosis,Very rare (<4-1%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001410,Decreased liver function,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001488,Bilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001626,Abnormality of the cardiovascular system,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001644,Dilated cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0001947,Renal tubular acidosis,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002086,Abnormality of the respiratory system,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002104,Apnea,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002283,Global brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002339,Abnormal caudate nucleus morphology,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002363,Abnormal brainstem morphology,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002415,Leukodystrophy,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002453,Abnormal globus pallidus morphology,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002490,Increased CSF lactate,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002538,Abnormal cerebral cortex morphology,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0006999,Basal ganglia gliosis,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0007110,Central hypoventilation,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0007159,Fluctuations in consciousness,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0007204,Diffuse white matter abnormalities,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0007941,Limited extraocular movements,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0010663,Abnormality of thalamus morphology,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0012707,Elevated brain lactate level by MRS,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0025045,Abnormal brain lactate level by MRS,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0030085,Abnormal CSF lactate concentration,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0031546,Cardiac conduction abnormality,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016685,Orphanet,70474,ORPHA:70474,65,HP:0200147,Neuronal loss in basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:19135620, PMID:26425749, PMID:29101127]",y,y +GARD:0016687,Orphanet,71289,ORPHA:71289,6,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,[PMID:11442476],y,y +GARD:0016687,Orphanet,71289,ORPHA:71289,6,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,[PMID:11442476],y,y +GARD:0016687,Orphanet,71289,ORPHA:71289,6,HP:0002974,Radioulnar synostosis,Very frequent (99-80%),TAS,,,,[PMID:11442476],y,y +GARD:0016687,Orphanet,71289,ORPHA:71289,6,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,[PMID:11442476],y,y +GARD:0016687,Orphanet,71289,ORPHA:71289,6,HP:0004859,Amegakaryocytic thrombocytopenia,Frequent (79-30%),TAS,,,,[PMID:11442476],y,y +GARD:0016687,Orphanet,71289,ORPHA:71289,6,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,[PMID:11442476],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0001894,Thrombocytosis,Very frequent (99-80%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0002315,Headache,Frequent (79-30%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0002326,Transient ischemic attack,Frequent (79-30%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0002637,Cerebral ischemia,Frequent (79-30%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0004420,Arterial thrombosis,Very frequent (99-80%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0004808,Acute myeloid leukemia,Occasional (29-5%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0004936,Venous thrombosis,Very frequent (99-80%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0004950,Peripheral arterial stenosis,Frequent (79-30%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0005506,Chronic myelogenous leukemia,Occasional (29-5%),TAS,,,,[PMID:11155408],y,y +GARD:0016688,Orphanet,71493,ORPHA:71493,24,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,[PMID:11155408],y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0000842,Hyperinsulinemia,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0001396,Cholestasis,Frequent (79-30%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0001513,Obesity,Obligate (100%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0002173,Hypoglycemic seizures,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0002297,Red hair,Frequent (79-30%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0002591,Polyphagia,Very frequent (99-80%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0008213,Gonadotropin deficiency,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0008245,Pituitary hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0008915,Childhood-onset truncal obesity,Frequent (79-30%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0009126,Increased adipose tissue,Obligate (100%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016689,Orphanet,71528,ORPHA:71528,18,HP:0011734,Central adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:14557433, PMID:15703762, PMID:16936203, PMID:27468060, PMID:9620771, PMID:9771698]",y,y +GARD:0016690,Orphanet,71529,ORPHA:71529,9,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:11443223, PMID:14764818, PMID:15126516, PMID:15486053, PMID:15703762, PMID:9771698]",y,y +GARD:0016690,Orphanet,71529,ORPHA:71529,9,HP:0000842,Hyperinsulinemia,Occasional (29-5%),TAS,,,,"[PMID:11443223, PMID:14764818, PMID:15126516, PMID:15486053, PMID:15703762, PMID:9771698]",y,y +GARD:0016690,Orphanet,71529,ORPHA:71529,9,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,"[PMID:11443223, PMID:14764818, PMID:15126516, PMID:15486053, PMID:15703762, PMID:9771698]",y,y +GARD:0016690,Orphanet,71529,ORPHA:71529,9,HP:0001513,Obesity,Obligate (100%),TAS,,,,"[PMID:11443223, PMID:14764818, PMID:15126516, PMID:15486053, PMID:15703762, PMID:9771698]",y,y +GARD:0016690,Orphanet,71529,ORPHA:71529,9,HP:0002155,Hypertriglyceridemia,Occasional (29-5%),TAS,,,,"[PMID:11443223, PMID:14764818, PMID:15126516, PMID:15486053, PMID:15703762, PMID:9771698]",y,y +GARD:0016690,Orphanet,71529,ORPHA:71529,9,HP:0002591,Polyphagia,Very frequent (99-80%),TAS,,,,"[PMID:11443223, PMID:14764818, PMID:15126516, PMID:15486053, PMID:15703762, PMID:9771698]",y,y +GARD:0016690,Orphanet,71529,ORPHA:71529,9,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:11443223, PMID:14764818, PMID:15126516, PMID:15486053, PMID:15703762, PMID:9771698]",y,y +GARD:0016690,Orphanet,71529,ORPHA:71529,9,HP:0008915,Childhood-onset truncal obesity,Frequent (79-30%),TAS,,,,"[PMID:11443223, PMID:14764818, PMID:15126516, PMID:15486053, PMID:15703762, PMID:9771698]",y,y +GARD:0016690,Orphanet,71529,ORPHA:71529,9,HP:0009126,Increased adipose tissue,Obligate (100%),TAS,,,,"[PMID:11443223, PMID:14764818, PMID:15126516, PMID:15486053, PMID:15703762, PMID:9771698]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0001279,Syncope,Very rare (<4-1%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0001907,Thromboembolism,Very rare (<4-1%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0005110,Atrial fibrillation,Occasional (29-5%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0005115,Supraventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0005162,Abnormal left ventricular function,Very frequent (99-80%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0008897,Postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0012398,Peripheral edema,Occasional (29-5%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0012764,Orthopnea,Occasional (29-5%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0030718,Right atrial enlargement,Frequent (79-30%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0030950,Pulmonary venous hypertension,Frequent (79-30%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0031295,Left atrial enlargement,Frequent (79-30%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0031329,Interstitial cardiac fibrosis,Frequent (79-30%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016692,Orphanet,75249,ORPHA:75249,20,HP:0100598,Pulmonary edema,Occasional (29-5%),TAS,,,,"[PMID:15542407, PMID:28912187]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0000331,Short chin,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0001028,Hemangioma,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0001031,Subcutaneous lipoma,Very rare (<4-1%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0002003,Large forehead,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0002035,Rectal prolapse,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0002239,Gastrointestinal hemorrhage,Very frequent (99-80%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0002243,Protein-losing enteropathy,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0002249,Melena,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0002573,Hematochezia,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0002576,Intussusception,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0002584,Intestinal bleeding,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0004326,Cachexia,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0004390,Hamartomatous polyposis,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0005227,Adenomatous colonic polyposis,Obligate (100%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0005505,Refractory anemia,Frequent (79-30%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0006608,Midclavicular hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0010174,Broad phalanx of the toes,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0010797,Hemangioblastoma,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0030257,Freckled genitalia,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016696,Orphanet,79076,ORPHA:79076,43,HP:0100759,Clubbing of fingers,Occasional (29-5%),TAS,,,,"[PMID:16685657, PMID:20301642, PMID:23331837, PMID:25022750]",y,y +GARD:0016697,Orphanet,79094,ORPHA:79094,10,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,[PMID:9489789],y,y +GARD:0016697,Orphanet,79094,ORPHA:79094,10,HP:0001159,Syndactyly,Frequent (79-30%),TAS,,,,[PMID:9489789],y,y +GARD:0016697,Orphanet,79094,ORPHA:79094,10,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,[PMID:9489789],y,y +GARD:0016697,Orphanet,79094,ORPHA:79094,10,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:9489789],y,y +GARD:0016697,Orphanet,79094,ORPHA:79094,10,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,[PMID:9489789],y,y +GARD:0016697,Orphanet,79094,ORPHA:79094,10,HP:0001659,Aortic regurgitation,Frequent (79-30%),TAS,,,,[PMID:9489789],y,y +GARD:0016697,Orphanet,79094,ORPHA:79094,10,HP:0002659,Increased susceptibility to fractures,Very frequent (99-80%),TAS,,,,[PMID:9489789],y,y +GARD:0016697,Orphanet,79094,ORPHA:79094,10,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,[PMID:9489789],y,y +GARD:0016697,Orphanet,79094,ORPHA:79094,10,HP:0006889,"Intellectual disability, borderline",Very frequent (99-80%),TAS,,,,[PMID:9489789],y,y +GARD:0016697,Orphanet,79094,ORPHA:79094,10,HP:0100545,Arterial stenosis,Very frequent (99-80%),TAS,,,,[PMID:9489789],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0001169,Broad palm,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0001211,Abnormal fingertip morphology,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0001769,Broad foot,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0002656,Epiphyseal dysplasia,Very frequent (99-80%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0002663,Delayed epiphyseal ossification,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0002753,Thin bony cortex,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0002967,Cubitus valgus,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0003025,Metaphyseal irregularity,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0003038,Fibular hypoplasia,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0003170,Abnormal acetabulum morphology,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0003275,Narrow pelvis bone,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0006376,Limited elbow flexion,Very frequent (99-80%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0008800,Limited hip movement,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0008808,High iliac wing,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0009803,Short phalanx of finger,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0010305,Absence of the sacrum,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0011849,Abnormal bone ossification,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016698,Orphanet,79106,ORPHA:79106,23,HP:0100671,Abnormal trabecular bone morphology,Frequent (79-30%),TAS,,,,[PMID:6734674],y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0000105,Enlarged kidney,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0001097,Keratoconjunctivitis sicca,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0001217,Clubbing,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0001370,Rheumatoid arthritis,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0002110,Bronchiectasis,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0002206,Pulmonary fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0003549,Abnormality of connective tissue,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0005948,Multiple pulmonary cysts,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0011947,Respiratory tract infection,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0025178,Subpleural interstitial thickening,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0025179,Ground-glass opacification,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0025180,Centrilobular ground-glass opacification on pulmonary HRCT,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0030057,Autoimmune antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0030828,Wheezing,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0030830,Crackles,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0030880,Raynaud phenomenon,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0030950,Pulmonary venous hypertension,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0031691,Severe viral infection,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0032177,Parenchymal consolidation,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0045051,Decreased DLCO,Frequent (79-30%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016700,Orphanet,79128,ORPHA:79128,34,HP:0100721,Mediastinal lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:31615921, PMID:32040879, PMID:33364263]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0001488,Bilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0003074,Hyperglycemia,Obligate (100%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0009894,Thickened ears,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0011342,Mild global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0040025,Clinodactyly of the 4th finger,Occasional (29-5%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016701,Orphanet,79134,ORPHA:79134,19,HP:0040217,Elevated hemoglobin A1c,Very frequent (99-80%),TAS,,,,"[PMID:15115830, PMID:15448107, PMID:16670688, PMID:17259376]",y,y +GARD:0016702,Orphanet,79135,ORPHA:79135,9,HP:0000360,Tinnitus,Frequent (79-30%),TAS,,,,"[PMID:11673600, PMID:11960817, PMID:16009908, PMID:19645908, PMID:20301317]",y,y +GARD:0016702,Orphanet,79135,ORPHA:79135,9,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:11673600, PMID:11960817, PMID:16009908, PMID:19645908, PMID:20301317]",y,y +GARD:0016702,Orphanet,79135,ORPHA:79135,9,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:11673600, PMID:11960817, PMID:16009908, PMID:19645908, PMID:20301317]",y,y +GARD:0016702,Orphanet,79135,ORPHA:79135,9,HP:0002076,Migraine,Excluded (0%),TAS,,,,"[PMID:11673600, PMID:11960817, PMID:16009908, PMID:19645908, PMID:20301317]",y,y +GARD:0016702,Orphanet,79135,ORPHA:79135,9,HP:0002131,Episodic ataxia,Obligate (100%),TAS,,,,"[PMID:11673600, PMID:11960817, PMID:16009908, PMID:19645908, PMID:20301317]",y,y +GARD:0016702,Orphanet,79135,ORPHA:79135,9,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,"[PMID:11673600, PMID:11960817, PMID:16009908, PMID:19645908, PMID:20301317]",y,y +GARD:0016702,Orphanet,79135,ORPHA:79135,9,HP:0002315,Headache,Excluded (0%),TAS,,,,"[PMID:11673600, PMID:11960817, PMID:16009908, PMID:19645908, PMID:20301317]",y,y +GARD:0016702,Orphanet,79135,ORPHA:79135,9,HP:0002321,Vertigo,Obligate (100%),TAS,,,,"[PMID:11673600, PMID:11960817, PMID:16009908, PMID:19645908, PMID:20301317]",y,y +GARD:0016702,Orphanet,79135,ORPHA:79135,9,HP:0002411,Myokymia,Frequent (79-30%),TAS,,,,"[PMID:11673600, PMID:11960817, PMID:16009908, PMID:19645908, PMID:20301317]",y,y +GARD:0016703,Orphanet,79136,ORPHA:79136,10,HP:0000617,Abnormality of ocular smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:13944410, PMID:26264377]",y,y +GARD:0016703,Orphanet,79136,ORPHA:79136,10,HP:0000640,Gaze-evoked nystagmus,Frequent (79-30%),TAS,,,,"[PMID:13944410, PMID:26264377]",y,y +GARD:0016703,Orphanet,79136,ORPHA:79136,10,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:13944410, PMID:26264377]",y,y +GARD:0016703,Orphanet,79136,ORPHA:79136,10,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:13944410, PMID:26264377]",y,y +GARD:0016703,Orphanet,79136,ORPHA:79136,10,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:13944410, PMID:26264377]",y,y +GARD:0016703,Orphanet,79136,ORPHA:79136,10,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:13944410, PMID:26264377]",y,y +GARD:0016703,Orphanet,79136,ORPHA:79136,10,HP:0002311,Incoordination,Frequent (79-30%),TAS,,,,"[PMID:13944410, PMID:26264377]",y,y +GARD:0016703,Orphanet,79136,ORPHA:79136,10,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,"[PMID:13944410, PMID:26264377]",y,y +GARD:0016703,Orphanet,79136,ORPHA:79136,10,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:13944410, PMID:26264377]",y,y +GARD:0016703,Orphanet,79136,ORPHA:79136,10,HP:0002457,Abnormal head movements,Frequent (79-30%),TAS,,,,"[PMID:13944410, PMID:26264377]",y,y +GARD:0016704,Orphanet,79137,ORPHA:79137,11,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:11520321, PMID:12366739, PMID:15937479, PMID:26195193]",y,y +GARD:0016704,Orphanet,79137,ORPHA:79137,11,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:11520321, PMID:12366739, PMID:15937479, PMID:26195193]",y,y +GARD:0016704,Orphanet,79137,ORPHA:79137,11,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:11520321, PMID:12366739, PMID:15937479, PMID:26195193]",y,y +GARD:0016704,Orphanet,79137,ORPHA:79137,11,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:11520321, PMID:12366739, PMID:15937479, PMID:26195193]",y,y +GARD:0016704,Orphanet,79137,ORPHA:79137,11,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:11520321, PMID:12366739, PMID:15937479, PMID:26195193]",y,y +GARD:0016704,Orphanet,79137,ORPHA:79137,11,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:11520321, PMID:12366739, PMID:15937479, PMID:26195193]",y,y +GARD:0016704,Orphanet,79137,ORPHA:79137,11,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:11520321, PMID:12366739, PMID:15937479, PMID:26195193]",y,y +GARD:0016704,Orphanet,79137,ORPHA:79137,11,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:11520321, PMID:12366739, PMID:15937479, PMID:26195193]",y,y +GARD:0016704,Orphanet,79137,ORPHA:79137,11,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,"[PMID:11520321, PMID:12366739, PMID:15937479, PMID:26195193]",y,y +GARD:0016704,Orphanet,79137,ORPHA:79137,11,HP:0007166,Paroxysmal dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:11520321, PMID:12366739, PMID:15937479, PMID:26195193]",y,y +GARD:0016704,Orphanet,79137,ORPHA:79137,11,HP:0010849,EEG with spike-wave complexes (>3.5 Hz),Frequent (79-30%),TAS,,,,"[PMID:11520321, PMID:12366739, PMID:15937479, PMID:26195193]",y,y +GARD:0016705,Orphanet,79141,ORPHA:79141,2,HP:0005588,Patchy palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016705,Orphanet,79141,ORPHA:79141,2,HP:0012531,Pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016707,Orphanet,79151,ORPHA:79151,12,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:12542527, PMID:16150218, PMID:3072593]",y,y +GARD:0016707,Orphanet,79151,ORPHA:79151,12,HP:0001036,Parakeratosis,Excluded (0%),TAS,,,,"[PMID:12542527, PMID:16150218, PMID:3072593]",y,y +GARD:0016707,Orphanet,79151,ORPHA:79151,12,HP:0001798,Anonychia,Occasional (29-5%),TAS,,,,"[PMID:12542527, PMID:16150218, PMID:3072593]",y,y +GARD:0016707,Orphanet,79151,ORPHA:79151,12,HP:0001820,Leukonychia,Frequent (79-30%),TAS,,,,"[PMID:12542527, PMID:16150218, PMID:3072593]",y,y +GARD:0016707,Orphanet,79151,ORPHA:79151,12,HP:0007530,Punctate palmoplantar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:12542527, PMID:16150218, PMID:3072593]",y,y +GARD:0016707,Orphanet,79151,ORPHA:79151,12,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:12542527, PMID:16150218, PMID:3072593]",y,y +GARD:0016707,Orphanet,79151,ORPHA:79151,12,HP:0025092,Epidermal acanthosis,Very frequent (99-80%),TAS,,,,"[PMID:12542527, PMID:16150218, PMID:3072593]",y,y +GARD:0016707,Orphanet,79151,ORPHA:79151,12,HP:0025114,Hypergranulosis,Very frequent (99-80%),TAS,,,,"[PMID:12542527, PMID:16150218, PMID:3072593]",y,y +GARD:0016707,Orphanet,79151,ORPHA:79151,12,HP:0025512,Skin-colored papule,Very frequent (99-80%),TAS,,,,"[PMID:12542527, PMID:16150218, PMID:3072593]",y,y +GARD:0016707,Orphanet,79151,ORPHA:79151,12,HP:0100792,Acantholysis,Excluded (0%),TAS,,,,"[PMID:12542527, PMID:16150218, PMID:3072593]",y,y +GARD:0016707,Orphanet,79151,ORPHA:79151,12,HP:0200035,Skin plaque,Frequent (79-30%),TAS,,,,"[PMID:12542527, PMID:16150218, PMID:3072593]",y,y +GARD:0016707,Orphanet,79151,ORPHA:79151,12,HP:0200043,Verrucae,Frequent (79-30%),TAS,,,,"[PMID:12542527, PMID:16150218, PMID:3072593]",y,y +GARD:0016709,Orphanet,79156,ORPHA:79156,3,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016709,Orphanet,79156,ORPHA:79156,3,HP:0002123,Generalized myoclonic seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016709,Orphanet,79156,ORPHA:79156,3,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0000742,Self-mutilation,Excluded (0%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0000791,Uric acid nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0001997,Gout,Occasional (29-5%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0002149,Hyperuricemia,Frequent (79-30%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0003259,Elevated circulating creatinine concentration,Occasional (29-5%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0012587,Macroscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0012611,Increased urinary urate,Frequent (79-30%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016710,Orphanet,79233,ORPHA:79233,18,HP:0100518,Dysuria,Occasional (29-5%),TAS,,,,"[PMID:17687757, PMID:18067674, PMID:25420563, PMID:28782500, PMID:5009592]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0000858,Irregular menstruation,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0000876,Oligomenorrhea,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0000939,Osteoporosis,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0001395,Hepatic fibrosis,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0001402,Hepatocellular carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0001903,Anemia,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0001947,Renal tubular acidosis,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0001988,Recurrent hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0002013,Vomiting,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0002014,Diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0002018,Nausea,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0002913,Myoglobinuria,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0003124,Hypercholesterolemia,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0003128,Lactic acidosis,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0003162,Fasting hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0003201,Rhabdomyolysis,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0003323,Progressive muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0003325,Limb-girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0003546,Exercise intolerance,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0003749,Pelvic girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0004324,Increased body weight,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0012028,Hepatocellular adenoma,Very rare (<4-1%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0012734,Ketotic hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016711,Orphanet,79240,ORPHA:79240,43,HP:0100607,Dysmenorrhea,Occasional (29-5%),TAS,,,,"[PMID:21634085, PMID:33317799]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0000546,Retinal degeneration,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0002180,Neurodegeneration,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0002268,Paroxysmal dystonia,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0002454,Eye of the tiger anomaly of globus pallidus,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0005656,Positional foot deformity,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0007994,Peripheral visual field loss,Occasional (29-5%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0012677,Iron accumulation in globus pallidus,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0025331,Upgaze palsy,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0025335,Delayed ability to stand,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0031139,Frog-leg posture,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0031960,Arm dystonia,Frequent (79-30%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0100503,Low levels of vitamin B1,Very frequent (99-80%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016712,Orphanet,79244,ORPHA:79244,33,HP:0500231,Abnormal CSF pyruvate family amino acid concentration,Very frequent (99-80%),TAS,,,,"[PMID:20022530, PMID:29093066]",y,y +GARD:0016713,Orphanet,79302,ORPHA:79302,12,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:17682975, PMID:18367963]",y,y +GARD:0016713,Orphanet,79302,ORPHA:79302,12,HP:0001394,Cirrhosis,Frequent (79-30%),TAS,,,,"[PMID:17682975, PMID:18367963]",y,y +GARD:0016713,Orphanet,79302,ORPHA:79302,12,HP:0001396,Cholestasis,Frequent (79-30%),TAS,,,,"[PMID:17682975, PMID:18367963]",y,y +GARD:0016713,Orphanet,79302,ORPHA:79302,12,HP:0001399,Hepatic failure,Frequent (79-30%),TAS,,,,"[PMID:17682975, PMID:18367963]",y,y +GARD:0016713,Orphanet,79302,ORPHA:79302,12,HP:0001408,Bile duct proliferation,Frequent (79-30%),TAS,,,,"[PMID:17682975, PMID:18367963]",y,y +GARD:0016713,Orphanet,79302,ORPHA:79302,12,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:17682975, PMID:18367963]",y,y +GARD:0016713,Orphanet,79302,ORPHA:79302,12,HP:0002630,Fat malabsorption,Frequent (79-30%),TAS,,,,"[PMID:17682975, PMID:18367963]",y,y +GARD:0016713,Orphanet,79302,ORPHA:79302,12,HP:0002904,Hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:17682975, PMID:18367963]",y,y +GARD:0016713,Orphanet,79302,ORPHA:79302,12,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:17682975, PMID:18367963]",y,y +GARD:0016713,Orphanet,79302,ORPHA:79302,12,HP:0031956,Elevated circulating aspartate aminotransferase concentration,Frequent (79-30%),TAS,,,,"[PMID:17682975, PMID:18367963]",y,y +GARD:0016713,Orphanet,79302,ORPHA:79302,12,HP:0031964,Elevated circulating alanine aminotransferase concentration,Frequent (79-30%),TAS,,,,"[PMID:17682975, PMID:18367963]",y,y +GARD:0016713,Orphanet,79302,ORPHA:79302,12,HP:0100508,Abnormality of vitamin metabolism,Frequent (79-30%),TAS,,,,"[PMID:17682975, PMID:18367963]",y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001259,Coma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0001987,Hyperammonemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,,y,y +GARD:0016714,Orphanet,79312,ORPHA:79312,29,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,,y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0000341,Narrow forehead,Occasional (29-5%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0012279,Hyposerinemia,Frequent (79-30%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0100540,Palpebral edema,Occasional (29-5%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016717,Orphanet,79350,ORPHA:79350,18,HP:0100633,Esophagitis,Occasional (29-5%),TAS,,,,"[PMID:16763900, PMID:19963421, PMID:25080166, PMID:28653176, PMID:8739971, PMID:9222972]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0001889,Megaloblastic anemia,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0002305,Athetosis,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0002510,Spastic tetraplegia,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0002536,Abnormal cortical gyration,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0006808,Cerebral hypomyelination,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0006872,Cerebral hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0007281,Developmental stagnation,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0007503,Generalized ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0010719,Abnormality of hair texture,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0010821,Focal emotional seizure with laughing,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0011097,Epileptic spasm,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0011343,Moderate global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0012277,Hypoglycinemia,Very frequent (99-80%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0012279,Hyposerinemia,Very frequent (99-80%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0012762,Cerebral white matter atrophy,Frequent (79-30%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0030215,Inappropriate crying,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0100633,Esophagitis,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016718,Orphanet,79351,ORPHA:79351,45,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:19963421, PMID:23463425, PMID:29269105, PMID:8758134]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0000407,Sensorineural hearing impairment,Excluded (0%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0000972,Palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0001036,Parakeratosis,Frequent (79-30%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0001805,Onychogryposis,Occasional (29-5%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0007465,Honeycomb palmoplantar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0007479,Congenital nonbullous ichthyosiform erythroderma,Frequent (79-30%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0007503,Generalized ichthyosis,Very frequent (99-80%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0008404,Nail dystrophy,Occasional (29-5%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0010491,Digital constriction ring,Very frequent (99-80%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0025092,Epidermal acanthosis,Occasional (29-5%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0025114,Hypergranulosis,Frequent (79-30%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0025525,Scaling skin on fingertip,Frequent (79-30%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0032541,Knuckle pad,Frequent (79-30%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016719,Orphanet,79395,ORPHA:79395,18,HP:0040162,Orthokeratosis,Occasional (29-5%),TAS,,,,"[PMID:32695713, PMID:32833329]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0000079,Abnormality of the urinary system,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0000402,Stenosis of the external auditory canal,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0000478,Abnormality of the eye,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0000982,Palmoplantar keratoderma,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0001030,Fragile skin,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0001056,Milia,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0001075,Atrophic scars,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0001798,Anonychia,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0001965,Abnormal scalp morphology,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0002043,Esophageal stricture,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0002671,Basal cell carcinoma,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0002860,Squamous cell carcinoma,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0004057,Mitten deformity,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0004386,Gastrointestinal inflammation,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0006297,Enamel hypoplasia,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0007446,Palmoplantar blistering,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0011355,Localized skin lesion,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0012056,Cutaneous melanoma,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0012227,Urethral stricture,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0012252,Abnormal respiratory system morphology,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0025416,Vaginal stricture,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0031464,Genital blistering,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0200020,Corneal erosion,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016720,Orphanet,79409,ORPHA:79409,29,HP:0200097,Oral mucosal blisters,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0000587,Abnormality of the optic nerve,Frequent (79-30%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0000649,Abnormality of visual evoked potentials,Frequent (79-30%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0001010,Hypopigmentation of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0001022,Albinism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0001107,Ocular albinism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0001480,Freckling,Frequent (79-30%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0002671,Basal cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0006739,Squamous cell carcinoma of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016721,Orphanet,79431,ORPHA:79431,16,HP:0007750,Hypoplasia of the fovea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0001022,Albinism,Frequent (79-30%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0001107,Ocular albinism,Frequent (79-30%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0003764,Nevus,Very rare (<4-1%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0007750,Hypoplasia of the fovea,Very frequent (99-80%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0008069,Neoplasm of the skin,Very rare (<4-1%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0011364,White hair,Frequent (79-30%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016722,Orphanet,79435,ORPHA:79435,15,HP:0025551,Optic nerve misrouting,Frequent (79-30%),TAS,,,,"[PMID:14961451, PMID:16965274, PMID:20301683, PMID:27734839]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0002094,Dyspnea,Very rare (<4-1%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0011354,Generalized abnormality of skin,Very frequent (99-80%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0011971,Dermatographic urticaria,Occasional (29-5%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0012733,Macule,Frequent (79-30%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0020172,Adverse drug response,Occasional (29-5%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0025081,Darier's sign,Very frequent (99-80%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0025507,Yellow papule,Frequent (79-30%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0031284,Flushing,Occasional (29-5%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0031901,Elevated total serum tryptase,Occasional (29-5%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016723,Orphanet,79457,ORPHA:79457,21,HP:0100845,Anaphylactic shock,Very rare (<4-1%),TAS,,,,"[PMID:33068315, PMID:33393144, PMID:34335590]",y,y +GARD:0016724,Orphanet,79506,ORPHA:79506,7,HP:0003077,Hyperlipidemia,Obligate (100%),TAS,,,,"[PMID:12080388, PMID:168823, PMID:19074352, PMID:2022742, PMID:24941081, PMID:24941082, PMID:3937535]",y,y +GARD:0016724,Orphanet,79506,ORPHA:79506,7,HP:0003124,Hypercholesterolemia,Obligate (100%),TAS,,,,"[PMID:12080388, PMID:168823, PMID:19074352, PMID:2022742, PMID:24941081, PMID:24941082, PMID:3937535]",y,y +GARD:0016724,Orphanet,79506,ORPHA:79506,7,HP:0004416,Precocious atherosclerosis,Excluded (0%),TAS,,,,"[PMID:12080388, PMID:168823, PMID:19074352, PMID:2022742, PMID:24941081, PMID:24941082, PMID:3937535]",y,y +GARD:0016724,Orphanet,79506,ORPHA:79506,7,HP:0010874,Tendon xanthomatosis,Excluded (0%),TAS,,,,"[PMID:12080388, PMID:168823, PMID:19074352, PMID:2022742, PMID:24941081, PMID:24941082, PMID:3937535]",y,y +GARD:0016724,Orphanet,79506,ORPHA:79506,7,HP:0010980,Hyperlipoproteinemia,Obligate (100%),TAS,,,,"[PMID:12080388, PMID:168823, PMID:19074352, PMID:2022742, PMID:24941081, PMID:24941082, PMID:3937535]",y,y +GARD:0016724,Orphanet,79506,ORPHA:79506,7,HP:0012153,Hypotriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:12080388, PMID:168823, PMID:19074352, PMID:2022742, PMID:24941081, PMID:24941082, PMID:3937535]",y,y +GARD:0016724,Orphanet,79506,ORPHA:79506,7,HP:0012184,Increased HDL cholesterol concentration,Obligate (100%),TAS,,,,"[PMID:12080388, PMID:168823, PMID:19074352, PMID:2022742, PMID:24941081, PMID:24941082, PMID:3937535]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0000825,Hyperinsulinemic hypoglycemia,Obligate (100%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0000845,Elevated circulating growth hormone concentration,Frequent (79-30%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0001988,Recurrent hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0001998,Neonatal hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0002919,Ketonuria,Excluded (0%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0003118,Increased circulating cortisol level,Occasional (29-5%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0008194,Multiple pancreatic beta-cell adenomas,Occasional (29-5%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0030796,Increased C-peptide level,Very frequent (99-80%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0031080,Abnormal response to glucagon stimulation test,Very frequent (99-80%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0031223,Focal pancreatic islet hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0031224,Diffuse pancreatic islet hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016727,Orphanet,79644,ORPHA:79644,20,HP:0040299,Decreased circulating free fatty acid level,Frequent (79-30%),TAS,,,,"[PMID:20301549, PMID:30873120, PMID:34055426]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0002629,Gastrointestinal arteriovenous malformation,Very rare (<4-1%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0002778,Abnormal tracheal morphology,Very rare (<4-1%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0002814,Abnormality of the lower limb,Occasional (29-5%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0002817,Abnormality of the upper limb,Occasional (29-5%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0010640,Abnormality of the nasal cavity,Very rare (<4-1%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0011297,Abnormal digit morphology,Frequent (79-30%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0011354,Generalized abnormality of skin,Occasional (29-5%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0011355,Localized skin lesion,Occasional (29-5%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0012210,Abnormal renal morphology,Very rare (<4-1%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0012721,Venous malformation,Very frequent (99-80%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0031445,Oral mucosa nodule,Very rare (<4-1%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0045026,Abnormality of the mediastinum,Very rare (<4-1%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0100026,Arteriovenous malformation,Very frequent (99-80%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0200034,Papule,Occasional (29-5%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0200035,Skin plaque,Occasional (29-5%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016728,Orphanet,83454,ORPHA:83454,16,HP:0200036,Skin nodule,Frequent (79-30%),TAS,,,,"[PMID:16298253, PMID:25382523, PMID:25614464, PMID:28163461]",y,y +GARD:0016729,Orphanet,83620,ORPHA:83620,9,HP:0001409,Portal hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0016729,Orphanet,83620,ORPHA:83620,9,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016729,Orphanet,83620,ORPHA:83620,9,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016729,Orphanet,83620,ORPHA:83620,9,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016729,Orphanet,83620,ORPHA:83620,9,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016729,Orphanet,83620,ORPHA:83620,9,HP:0002611,Cholestatic liver disease,Frequent (79-30%),TAS,,,,,y,y +GARD:0016729,Orphanet,83620,ORPHA:83620,9,HP:0004918,Hyperchloremic metabolic acidosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016729,Orphanet,83620,ORPHA:83620,9,HP:0025354,Abnormal cellular phenotype,Frequent (79-30%),TAS,,,,,y,y +GARD:0016729,Orphanet,83620,ORPHA:83620,9,HP:0100651,Type I diabetes mellitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0000089,Renal hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0000108,Renal corticomedullary cysts,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0001395,Hepatic fibrosis,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0001396,Cholestasis,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0001409,Portal hypertension,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0001959,Polydipsia,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0002040,Esophageal varix,Occasional (29-5%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0002506,Diffuse cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0002612,Congenital hepatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0003573,Increased total bilirubin,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0004719,Hyperechogenic kidneys,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0005565,Reduced renal corticomedullary differentiation,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0006563,Malformation of the hepatic ductal plate,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0006571,Reduced number of intrahepatic bile ducts,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0012163,Carotid artery dilatation,Occasional (29-5%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0012585,Renal atrophy,Occasional (29-5%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0012591,Abnormal urinary electrolyte concentration,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0020132,Thickening of the tubular basement membrane,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0031589,Suicidal ideation,Occasional (29-5%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0032581,Abnormal renal insterstitial morphology,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016730,Orphanet,84081,ORPHA:84081,34,HP:0032622,Tubular luminal dilatation,Frequent (79-30%),TAS,,,,"[PMID:29479522, PMID:31821705, PMID:34212438, PMID:34461951]",y,y +GARD:0016733,Orphanet,85112,ORPHA:85112,3,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016733,Orphanet,85112,ORPHA:85112,3,HP:0006739,Squamous cell carcinoma of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016733,Orphanet,85112,ORPHA:85112,3,HP:0012245,Sex reversal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0000493,Abnormal foveal morphology,Frequent (79-30%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0000529,Progressive visual loss,Very frequent (99-80%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0000539,Abnormality of refraction,Frequent (79-30%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0000546,Retinal degeneration,Frequent (79-30%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0000551,Color vision defect,Very frequent (99-80%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0000580,Pigmentary retinopathy,Frequent (79-30%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0000603,Central scotoma,Occasional (29-5%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0000608,Macular degeneration,Frequent (79-30%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0000610,Abnormal choroid morphology,Occasional (29-5%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0000662,Nyctalopia,Occasional (29-5%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0001123,Visual field defect,Very frequent (99-80%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0001129,Large central visual field defect,Occasional (29-5%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0007722,Retinal pigment epithelial atrophy,Occasional (29-5%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0007737,Bone spicule pigmentation of the retina,Excluded (0%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0007814,Retinal pigment epithelial mottling,Frequent (79-30%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0007984,Electronegative electroretinogram,Occasional (29-5%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0030469,Abnormal dark-adapted electroretinogram,Very frequent (99-80%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0030474,Undetectable dark-adapted electroretinogram,Very frequent (99-80%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0030528,Paracentral scotoma,Occasional (29-5%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0030529,Ring scotoma,Occasional (29-5%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0030618,Increased OCT-measured foveal thickness,Very frequent (99-80%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016734,Orphanet,85128,ORPHA:85128,23,HP:0032118,Retinitis,Frequent (79-30%),TAS,,,,"[PMID:22551409, PMID:25429852]",y,y +GARD:0016735,Orphanet,85169,ORPHA:85169,6,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016735,Orphanet,85169,ORPHA:85169,6,HP:0004268,Osteoarthritis of the small joints of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016735,Orphanet,85169,ORPHA:85169,6,HP:0005793,Shortening of all distal phalanges of the toes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016735,Orphanet,85169,ORPHA:85169,6,HP:0005819,Short middle phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016735,Orphanet,85169,ORPHA:85169,6,HP:0006239,Shortening of all middle phalanges of the toes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016735,Orphanet,85169,ORPHA:85169,6,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0000446,Narrow nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0001762,Talipes equinovarus,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0003311,Hypoplasia of the odontoid process,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0004582,Irregularity of vertebral bodies,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0010230,Cone-shaped epiphyses of the phalanges of the hand,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0011833,Overhanging nasal tip,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016736,Orphanet,85172,ORPHA:85172,16,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,[PMID:8074143],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0000242,Parietal bossing,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0000260,Wide anterior fontanel,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0000885,Broad ribs,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0000940,Abnormal diaphysis morphology,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0001248,Short tubular bones of the hand,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0002212,Curly hair,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0002645,Wormian bones,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0002673,Coxa valga,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0002703,Abnormality of skull ossification,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0002753,Thin bony cortex,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0005446,Obtuse angle of mandible,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0006391,Overtubulated long bones,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0006429,Broad femoral neck,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0008438,Vertebral arch anomaly,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0009911,Abnormal temporal bone morphology,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0010539,Thin calvarium,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016737,Orphanet,85184,ORPHA:85184,26,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,[PMID:9605592],y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0002753,Thin bony cortex,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0002834,Flared femoral metaphysis,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0002982,Tibial bowing,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0002986,Radial bowing,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0003022,Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0003031,Ulnar bowing,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0003856,Upper limb metaphyseal widening,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0003871,Deformed humerus,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0003874,Humerus varus,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0003985,Exostoses of the ulna,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0003986,Exostoses of the radius,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0004026,Broad radial metaphysis,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0005622,Broad long bones,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0006323,Premature loss of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0006387,Wide distal femoral metaphysis,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0006413,Broad tibial metaphyses,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0006429,Broad femoral neck,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0008783,Wide proximal femoral metaphysis,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0008804,Broad femoral head,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0010498,Bipartite patella,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0010502,Fibular bowing,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0010540,Advanced pneumatization of cranial sinuses,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0010639,Elevated alkaline phosphatase of bone origin,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0011001,Increased bone mineral density,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0032208,Increased urinary type 1 collagen N-terminal telopeptide level,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0100670,Coarse metaphyseal trabecularization,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0100916,Sclerosis of middle finger phalanx,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016738,Orphanet,85188,ORPHA:85188,31,HP:0100917,Sclerosis of proximal finger phalanx,Frequent (79-30%),TAS,,,,"[PMID:11343343, PMID:16691581]",y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000297,Facial hypotonia,Frequent (79-30%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000391,Thickened helices,Occasional (29-5%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000534,Abnormal eyebrow morphology,Very frequent (99-80%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000541,Retinal detachment,Very frequent (99-80%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0000974,Hyperextensible skin,Occasional (29-5%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0002942,Thoracic kyphosis,Very frequent (99-80%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0003521,Disproportionate short-trunk short stature,Very frequent (99-80%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0004467,Preauricular pit,Occasional (29-5%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0005108,Abnormal intervertebral disk morphology,Very frequent (99-80%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0008063,Aplasia/Hypoplasia of the lens,Frequent (79-30%),TAS,,,,[PMID:11260210],y,y +GARD:0016740,Orphanet,85194,ORPHA:85194,31,HP:0009738,Abnormal antihelix morphology,Occasional (29-5%),TAS,,,,[PMID:11260210],y,y +GARD:0016741,Orphanet,85197,ORPHA:85197,3,HP:0000889,Abnormal clavicle morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016741,Orphanet,85197,ORPHA:85197,3,HP:0002815,Abnormality of the knee,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016741,Orphanet,85197,ORPHA:85197,3,HP:0005701,Multiple enchondromatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0000996,Facial capillary hemangioma,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0001377,Limited elbow extension,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0001992,Organic aciduria,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0003355,Aminoaciduria,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0005306,Capillary hemangioma,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0007413,Nevus flammeus of the forehead,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0009811,Abnormality of the elbow,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0012023,Galactosuria,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,[PMID:10398235],y,y +GARD:0016742,Orphanet,85276,ORPHA:85276,38,HP:0400004,Long ear,Occasional (29-5%),TAS,,,,[PMID:10398235],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0000049,Shawl scrotum,Frequent (79-30%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0000733,Motor stereotypy,Very frequent (99-80%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0002273,Tetraparesis,Very frequent (99-80%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0003011,Abnormality of the musculature,Frequent (79-30%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0010804,Tented upper lip vermilion,Very frequent (99-80%),TAS,,,,[PMID:15466006],y,y +GARD:0016743,Orphanet,85277,ORPHA:85277,18,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:15466006],y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0002232,Patchy alopecia,Very frequent (99-80%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0007565,Multiple cafe-au-lait spots,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016744,Orphanet,85279,ORPHA:85279,25,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,"[PMID:19826449, PMID:21575681]",y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0000218,High palate,Occasional (29-5%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0001956,Truncal obesity,Frequent (79-30%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0002967,Cubitus valgus,Very frequent (99-80%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:14556244],y,y +GARD:0016745,Orphanet,85280,ORPHA:85280,17,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,[PMID:14556244],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0000089,Renal hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0000110,Renal dysplasia,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0000609,Optic nerve hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0002251,Aganglionic megacolon,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0002937,Hemivertebrae,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0003811,Neonatal death,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0005343,Hypoplasia of the bladder,Very frequent (99-80%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:9021007],y,y +GARD:0016746,Orphanet,85284,ORPHA:85284,29,HP:0012443,Abnormality of brain morphology,Very frequent (99-80%),TAS,,,,[PMID:9021007],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0000034,Hydrocele testis,Occasional (29-5%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0000321,Square face,Frequent (79-30%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0002300,Mutism,Frequent (79-30%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0010814,Abnormal position of hair whorl,Frequent (79-30%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,[PMID:1357179],y,y +GARD:0016747,Orphanet,85290,ORPHA:85290,16,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,[PMID:1357179],y,y +GARD:0016748,Orphanet,85294,ORPHA:85294,4,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016748,Orphanet,85294,ORPHA:85294,4,HP:0000718,Aggressive behavior,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016748,Orphanet,85294,ORPHA:85294,4,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016748,Orphanet,85294,ORPHA:85294,4,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016749,Orphanet,85295,ORPHA:85295,3,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016749,Orphanet,85295,ORPHA:85295,3,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016749,Orphanet,85295,ORPHA:85295,3,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000048,Bifid scrotum,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000089,Renal hypoplasia,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000110,Renal dysplasia,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000689,Dental malocclusion,Very frequent (99-80%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0000821,Hypothyroidism,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0001876,Pancytopenia,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0006709,Aplasia/Hypoplasia of the nipples,Very frequent (99-80%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:11073537],y,y +GARD:0016750,Orphanet,85321,ORPHA:85321,32,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,[PMID:11073537],y,y +GARD:0016751,Orphanet,85324,ORPHA:85324,5,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:10331611],y,y +GARD:0016751,Orphanet,85324,ORPHA:85324,5,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,[PMID:10331611],y,y +GARD:0016751,Orphanet,85324,ORPHA:85324,5,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,[PMID:10331611],y,y +GARD:0016751,Orphanet,85324,ORPHA:85324,5,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:10331611],y,y +GARD:0016751,Orphanet,85324,ORPHA:85324,5,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:10331611],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0000194,Open mouth,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0000331,Short chin,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0000718,Aggressive behavior,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0002187,"Intellectual disability, profound",Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0003189,Long nose,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:12599187],y,y +GARD:0016752,Orphanet,85329,ORPHA:85329,19,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,[PMID:12599187],y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0000587,Abnormality of the optic nerve,Occasional (29-5%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0001264,Spastic diplegia,Very frequent (99-80%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0002465,Poor speech,Very frequent (99-80%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0002684,Thickened calvaria,Occasional (29-5%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016753,Orphanet,85335,ORPHA:85335,21,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:18428203, PMID:9222959]",y,y +GARD:0016754,Orphanet,85447,ORPHA:85447,14,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301373, PMID:29249054]",y,y +GARD:0016754,Orphanet,85447,ORPHA:85447,14,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:29249054]",y,y +GARD:0016754,Orphanet,85447,ORPHA:85447,14,HP:0001271,Polyneuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301373, PMID:29249054]",y,y +GARD:0016754,Orphanet,85447,ORPHA:85447,14,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:29249054]",y,y +GARD:0016754,Orphanet,85447,ORPHA:85447,14,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:29249054]",y,y +GARD:0016754,Orphanet,85447,ORPHA:85447,14,HP:0001678,Atrioventricular block,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:29249054]",y,y +GARD:0016754,Orphanet,85447,ORPHA:85447,14,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:29249054]",y,y +GARD:0016754,Orphanet,85447,ORPHA:85447,14,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:29249054]",y,y +GARD:0016754,Orphanet,85447,ORPHA:85447,14,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:29249054]",y,y +GARD:0016754,Orphanet,85447,ORPHA:85447,14,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:29249054]",y,y +GARD:0016754,Orphanet,85447,ORPHA:85447,14,HP:0012185,Constrictive median neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:29249054]",y,y +GARD:0016754,Orphanet,85447,ORPHA:85447,14,HP:0012211,Abnormal renal physiology,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:29249054]",y,y +GARD:0016754,Orphanet,85447,ORPHA:85447,14,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:29249054]",y,y +GARD:0016754,Orphanet,85447,ORPHA:85447,14,HP:0100832,Vitreous floaters,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:29249054]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0001271,Polyneuropathy,Very rare (<4-1%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0001650,Aortic valve stenosis,Very rare (<4-1%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0001692,Atrial arrhythmia,Very frequent (99-80%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0001723,Restrictive cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0001907,Thromboembolism,Occasional (29-5%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0003115,Abnormal EKG,Very frequent (99-80%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0003416,Spinal canal stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0005150,Abnormal atrioventricular conduction,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0009830,Peripheral neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0012185,Constrictive median neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0012664,Reduced ejection fraction,Frequent (79-30%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0025028,Abnormality of enteric nervous system morphology,Occasional (29-5%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0030843,Cardiac amyloidosis,Very frequent (99-80%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0031185,Increased circulating NT-proBNP concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0100550,Tendon rupture,Occasional (29-5%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016755,Orphanet,85451,ORPHA:85451,25,HP:0410174,Increased circulating troponin T concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301373, PMID:31171094]",y,y +GARD:0016758,Orphanet,86814,ORPHA:86814,8,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0016758,Orphanet,86814,ORPHA:86814,8,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016758,Orphanet,86814,ORPHA:86814,8,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016758,Orphanet,86814,ORPHA:86814,8,HP:0002315,Headache,Occasional (29-5%),TAS,,,,,y,y +GARD:0016758,Orphanet,86814,ORPHA:86814,8,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016758,Orphanet,86814,ORPHA:86814,8,HP:0002378,Hand tremor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016758,Orphanet,86814,ORPHA:86814,8,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016758,Orphanet,86814,ORPHA:86814,8,HP:0100576,Amaurosis fugax,Occasional (29-5%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0000944,Abnormality of the metaphysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0001646,Abnormal aortic valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0002907,Microscopic hematuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0004445,Elliptocytosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0016761,Orphanet,86818,ORPHA:86818,22,HP:0100820,Glomerulopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0000282,Facial edema,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0001302,Pachygyria,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0001338,Partial agenesis of the corpus callosum,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0001339,Lissencephaly,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0001511,Intrauterine growth retardation,Obligate (100%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0001561,Polyhydramnios,Obligate (100%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0001762,Talipes equinovarus,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0002089,Pulmonary hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0002134,Abnormality of the basal ganglia,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0002365,Hypoplasia of the brainstem,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0003330,Abnormal bone structure,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0003405,Diffuse axonal swelling,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0006827,Atrophy of the spinal cord,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0006872,Cerebral hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0007190,Neuronal loss in the cerebral cortex,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0008178,Abnormal cartilage matrix,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0010655,Epiphyseal stippling,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016763,Orphanet,86822,ORPHA:86822,23,HP:0012697,Small basal ganglia,Very frequent (99-80%),TAS,,,,[PMID:11170088],y,y +GARD:0016766,Orphanet,86919,ORPHA:86919,3,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016766,Orphanet,86919,ORPHA:86919,3,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016766,Orphanet,86919,ORPHA:86919,3,HP:0007447,Diffuse palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016767,Orphanet,86923,ORPHA:86923,2,HP:0007390,Hyperkeratosis with erythema,Very frequent (99-80%),TAS,,,,[PMID:2260881],y,y +GARD:0016767,Orphanet,86923,ORPHA:86923,2,HP:0007447,Diffuse palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,[PMID:2260881],y,y +GARD:0016768,Orphanet,88629,ORPHA:88629,6,HP:0000479,Abnormal retinal morphology,Frequent (79-30%),TAS,,,,"[PMID:16961973, PMID:17429491, PMID:19927164, PMID:20301591]",y,y +GARD:0016768,Orphanet,88629,ORPHA:88629,6,HP:0000552,Tritanomaly,Frequent (79-30%),TAS,,,,"[PMID:16961973, PMID:17429491, PMID:19927164, PMID:20301591]",y,y +GARD:0016768,Orphanet,88629,ORPHA:88629,6,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:16961973, PMID:17429491, PMID:19927164, PMID:20301591]",y,y +GARD:0016768,Orphanet,88629,ORPHA:88629,6,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:16961973, PMID:17429491, PMID:19927164, PMID:20301591]",y,y +GARD:0016768,Orphanet,88629,ORPHA:88629,6,HP:0012043,Pendular nystagmus,Occasional (29-5%),TAS,,,,"[PMID:16961973, PMID:17429491, PMID:19927164, PMID:20301591]",y,y +GARD:0016768,Orphanet,88629,ORPHA:88629,6,HP:0030584,Color vision test abnormality,Frequent (79-30%),TAS,,,,"[PMID:16961973, PMID:17429491, PMID:19927164, PMID:20301591]",y,y +GARD:0016770,Orphanet,88635,ORPHA:88635,2,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016770,Orphanet,88635,ORPHA:88635,2,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016771,Orphanet,88637,ORPHA:88637,4,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016771,Orphanet,88637,ORPHA:88637,4,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016771,Orphanet,88637,ORPHA:88637,4,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016771,Orphanet,88637,ORPHA:88637,4,HP:0003429,CNS hypomyelination,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0001392,Abnormality of the liver,Very frequent (99-80%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0001409,Portal hypertension,Very frequent (99-80%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0001894,Thrombocytosis,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0001901,Polycythemia,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0001939,Abnormality of metabolism/homeostasis,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002034,Abnormal rectum morphology,Frequent (79-30%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002040,Esophageal varix,Frequent (79-30%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002480,Hepatic encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002605,Hepatic necrosis,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002615,Hypotension,Very rare (<4-1%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002639,Budd-Chiari syndrome,Very rare (<4-1%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002900,Hypokalemia,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002904,Hyperbilirubinemia,Very frequent (99-80%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0003073,Hypoalbuminemia,Very frequent (99-80%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0005293,Venous insufficiency,Frequent (79-30%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0005978,Type II diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0006707,Abnormality of the hepatic vasculature,Very frequent (99-80%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0011029,Internal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0012050,Anasarca,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0025142,Constitutional symptom,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0100523,Liver abscess,Very rare (<4-1%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0100762,Hemobilia,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0200114,Metabolic alkalosis,Occasional (29-5%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016773,Orphanet,88673,ORPHA:88673,46,HP:0410019,Epigastric pain,Frequent (79-30%),TAS,,,,"[PMID:16250051, PMID:26929917]",y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0000972,Palmoplantar hyperkeratosis,Frequent (79-30%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0001056,Milia,Occasional (29-5%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0001075,Atrophic scars,Occasional (29-5%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0001802,Absent toenail,Occasional (29-5%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0001807,Ridged nail,Occasional (29-5%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0001810,Dystrophic toenail,Occasional (29-5%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0003764,Nevus,Occasional (29-5%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0007446,Palmoplantar blistering,Frequent (79-30%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0007589,Aplasia cutis congenita on trunk or limbs,Occasional (29-5%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0008388,Abnormal toenail morphology,Frequent (79-30%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0031464,Genital blistering,Occasional (29-5%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0200041,Skin erosion,Frequent (79-30%),TAS,,,,[PMID:18713255],y,y +GARD:0016778,Orphanet,89838,ORPHA:89838,20,HP:0200097,Oral mucosal blisters,Frequent (79-30%),TAS,,,,[PMID:18713255],y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0000152,Abnormality of head or neck,Occasional (29-5%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0001056,Milia,Occasional (29-5%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0001075,Atrophic scars,Occasional (29-5%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0002973,Abnormality of the forearm,Occasional (29-5%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0003019,Abnormality of the wrist,Frequent (79-30%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0003212,Increased circulating IgE level,Very rare (<4-1%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0003341,Lamina lucida cleavage,Occasional (29-5%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0004334,Dermal atrophy,Occasional (29-5%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0008388,Abnormal toenail morphology,Occasional (29-5%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0012221,Pretibial blistering,Frequent (79-30%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0100699,Scarring,Occasional (29-5%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0100725,Lichenification,Frequent (79-30%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0200034,Papule,Occasional (29-5%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016779,Orphanet,89843,ORPHA:89843,20,HP:0200035,Skin plaque,Frequent (79-30%),TAS,,,,"[PMID:16965329, PMID:20301481, PMID:25690953, PMID:25694436]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0000269,Prominent occiput,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0000308,Microretrognathia,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0000341,Narrow forehead,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0000350,Small forehead,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0000479,Abnormal retinal morphology,Occasional (29-5%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0001838,Rocker bottom foot,Occasional (29-5%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0002648,Abnormality of calvarial morphology,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0003808,Abnormal muscle tone,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0006270,Hypoplastic spleen,Occasional (29-5%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0006818,4-layered lissencephaly,Very frequent (99-80%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0011451,Primary microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0012736,Profound global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016780,Orphanet,89844,ORPHA:89844,35,HP:0045028,Microlissencephaly,Very frequent (99-80%),TAS,,,,"[PMID:17367103, PMID:25927602]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0001891,Iron deficiency anemia,Frequent (79-30%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0002148,Hypophosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0002748,Rickets,Frequent (79-30%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0002749,Osteomalacia,Frequent (79-30%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0002901,Hypocalcemia,Very rare (<4-1%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0002979,Bowing of the legs,Frequent (79-30%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0003109,Hyperphosphaturia,Very frequent (99-80%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0020110,Bone fracture,Occasional (29-5%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0030757,Tooth abscess,Frequent (79-30%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016781,Orphanet,89937,ORPHA:89937,15,HP:0100512,Low levels of vitamin D,Frequent (79-30%),TAS,,,,"[PMID:31486862, PMID:31756522]",y,y +GARD:0016783,Orphanet,90023,ORPHA:90023,7,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,[PMID:17195838],y,y +GARD:0016783,Orphanet,90023,ORPHA:90023,7,HP:0001875,Neutropenia,Very frequent (99-80%),TAS,,,,[PMID:17195838],y,y +GARD:0016783,Orphanet,90023,ORPHA:90023,7,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,[PMID:17195838],y,y +GARD:0016783,Orphanet,90023,ORPHA:90023,7,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:17195838],y,y +GARD:0016783,Orphanet,90023,ORPHA:90023,7,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,[PMID:17195838],y,y +GARD:0016783,Orphanet,90023,ORPHA:90023,7,HP:0006538,Recurrent bronchopulmonary infections,Very frequent (99-80%),TAS,,,,[PMID:17195838],y,y +GARD:0016783,Orphanet,90023,ORPHA:90023,7,HP:0007443,Partial albinism,Very frequent (99-80%),TAS,,,,[PMID:17195838],y,y +GARD:0016785,Orphanet,90044,ORPHA:90044,6,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:11167849, PMID:11918557, PMID:15142123, PMID:1929192, PMID:23180570, PMID:24947683, PMID:2766660]",y,y +GARD:0016785,Orphanet,90044,ORPHA:90044,6,HP:0001923,Reticulocytosis,Occasional (29-5%),TAS,,,,"[PMID:11167849, PMID:11918557, PMID:15142123, PMID:1929192, PMID:23180570, PMID:24947683, PMID:2766660]",y,y +GARD:0016785,Orphanet,90044,ORPHA:90044,6,HP:0002153,Hyperkalemia,Very frequent (99-80%),TAS,,,,"[PMID:11167849, PMID:11918557, PMID:15142123, PMID:1929192, PMID:23180570, PMID:24947683, PMID:2766660]",y,y +GARD:0016785,Orphanet,90044,ORPHA:90044,6,HP:0004446,Stomatocytosis,Frequent (79-30%),TAS,,,,"[PMID:11167849, PMID:11918557, PMID:15142123, PMID:1929192, PMID:23180570, PMID:24947683, PMID:2766660]",y,y +GARD:0016785,Orphanet,90044,ORPHA:90044,6,HP:0004802,Episodic hemolytic anemia,Very rare (<4-1%),TAS,,,,"[PMID:11167849, PMID:11918557, PMID:15142123, PMID:1929192, PMID:23180570, PMID:24947683, PMID:2766660]",y,y +GARD:0016785,Orphanet,90044,ORPHA:90044,6,HP:0005518,Increased mean corpuscular volume,Occasional (29-5%),TAS,,,,"[PMID:11167849, PMID:11918557, PMID:15142123, PMID:1929192, PMID:23180570, PMID:24947683, PMID:2766660]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0000762,Decreased nerve conduction velocity,Very frequent (99-80%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0002522,Areflexia of lower limbs,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0003134,Abnormality of peripheral nerve conduction,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0003387,Decreased number of large peripheral myelinated nerve fibers,Very frequent (99-80%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0003409,Distal sensory impairment of all modalities,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0003438,Absent Achilles reflex,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0006938,Impaired vibration sensation at ankles,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0007078,Decreased amplitude of sensory action potentials,Very frequent (99-80%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0007141,Sensorimotor neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0007210,Lower limb amyotrophy,Very frequent (99-80%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0008625,Severe sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0008944,Distal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0008954,Intrinsic hand muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0008959,Distal upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0008962,Calf muscle hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0009031,Amyotrophy of ankle musculature,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0009129,Upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0012046,Areflexia of upper limbs,Occasional (29-5%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016786,Orphanet,90103,ORPHA:90103,30,HP:0040078,Axonal degeneration,Excluded (0%),TAS,,,,"[PMID:11231025, PMID:20301532, PMID:24434692, PMID:6705250, PMID:8585809, PMID:9475604, PMID:9591228]",y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0000098,Tall stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0000140,Abnormality of the menstrual cycle,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0000929,Abnormal skull morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0000969,Edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0001028,Hemangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0001702,Abnormal tricuspid valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0001935,Microcytic anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0002204,Pulmonary embolism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0002239,Gastrointestinal hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0003010,Prolonged bleeding time,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0004414,Abnormality of the pulmonary artery,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0004936,Venous thrombosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0005293,Venous insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0011029,Internal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0011842,Abnormal skeletal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0100559,Lower limb asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0100560,Upper limb asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0100658,Cellulitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0100724,Hypercoagulability,Occasional (29-5%),TAS,,,,,y,y +GARD:0016788,Orphanet,90308,ORPHA:90308,31,HP:0100784,Peripheral arteriovenous fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0000164,Abnormality of the dentition,Excluded (0%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0000499,Abnormal eyelash morphology,Excluded (0%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0000534,Abnormal eyebrow morphology,Excluded (0%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0001036,Parakeratosis,Frequent (79-30%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0001047,Atopic dermatitis,Occasional (29-5%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0001597,Abnormality of the nail,Excluded (0%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0002293,Alopecia of scalp,Frequent (79-30%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0002550,Absent facial hair,Excluded (0%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0003193,Allergic rhinitis,Occasional (29-5%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0003212,Increased circulating IgE level,Occasional (29-5%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0004528,Generalized hypotrichosis,Excluded (0%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0007550,Hypohidrosis or hyperhidrosis,Excluded (0%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0025092,Epidermal acanthosis,Frequent (79-30%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0100038,Slow-growing scalp hair,Very frequent (99-80%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0100133,Abnormality of the pubic hair,Excluded (0%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016789,Orphanet,90368,ORPHA:90368,21,HP:0100134,Abnormality of the axillary hair,Excluded (0%),TAS,,,,"[PMID:23746069, PMID:28873114, PMID:31663161]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0000851,Congenital hypothyroidism,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0000853,Goiter,Excluded (0%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0000969,Edema,Very rare (<4-1%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0001252,Hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0002045,Hypothermia,Very rare (<4-1%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0002925,Elevated circulating thyroid-stimulating hormone concentration,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0003265,Neonatal hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0004491,Large posterior fontanelle,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0005990,Thyroid hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0006579,Prolonged neonatal jaundice,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0008223,Compensated hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0008828,Delayed proximal femoral epiphyseal ossification,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0011437,Maternal autoimmune disease,Excluded (0%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0011789,Impaired sensitivity to thyroid stimulating hormone,Obligate (100%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0025429,Abnormal cry,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0025484,Increased circulating thyroglobulin level,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0031219,Reduced radioactive iodine uptake,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0031220,Increased radioactive iodine uptake,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016793,Orphanet,90673,ORPHA:90673,28,HP:0031507,Decreased circulating T4 level,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:21513912, PMID:25797365, PMID:28648507]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0000013,Hypoplasia of the uterus,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0000033,"Ambiguous genitalia, male",Occasional (29-5%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0000037,Male pseudohermaphroditism,Occasional (29-5%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0000147,Polycystic ovaries,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0000868,Decreased fertility in females,Frequent (79-30%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0002215,Sparse axillary hair,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0002225,Sparse pubic hair,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0008187,Absence of secondary sex characteristics,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0008193,Primary gonadal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0008214,Decreased serum estradiol,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0008232,Elevated circulating follicle stimulating hormone level,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0008675,Enlarged polycystic ovaries,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0008726,Hypoplasia of the vagina,Frequent (79-30%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0008730,"Female external genitalia in individual with 46,XY karyotype",Occasional (29-5%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0011969,Elevated circulating luteinizing hormone level,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0012041,Decreased fertility in males,Frequent (79-30%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0012112,Abnormal circulating corticosterone level,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0012244,Abnormal sex determination,Occasional (29-5%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0030349,Decreased circulating androgen concentration,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016794,Orphanet,90796,ORPHA:90796,36,HP:0100607,Dysmenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:11549685, PMID:14504283, PMID:14747197, PMID:15866602, PMID:2026124, PMID:24793988, PMID:4288776, PMID:4352099, PMID:7045152, PMID:8070426, PMID:9326943, PMID:999330]",y,y +GARD:0016795,Orphanet,91130,ORPHA:91130,11,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,[PMID:17273968],y,y +GARD:0016795,Orphanet,91130,ORPHA:91130,11,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,[PMID:17273968],y,y +GARD:0016795,Orphanet,91130,ORPHA:91130,11,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:17273968],y,y +GARD:0016795,Orphanet,91130,ORPHA:91130,11,HP:0001639,Hypertrophic cardiomyopathy,Very frequent (99-80%),TAS,,,,[PMID:17273968],y,y +GARD:0016795,Orphanet,91130,ORPHA:91130,11,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,[PMID:17273968],y,y +GARD:0016795,Orphanet,91130,ORPHA:91130,11,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,[PMID:17273968],y,y +GARD:0016795,Orphanet,91130,ORPHA:91130,11,HP:0002151,Increased serum lactate,Very frequent (99-80%),TAS,,,,[PMID:17273968],y,y +GARD:0016795,Orphanet,91130,ORPHA:91130,11,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,[PMID:17273968],y,y +GARD:0016795,Orphanet,91130,ORPHA:91130,11,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,[PMID:17273968],y,y +GARD:0016795,Orphanet,91130,ORPHA:91130,11,HP:0009805,Low-output congestive heart failure,Frequent (79-30%),TAS,,,,[PMID:17273968],y,y +GARD:0016795,Orphanet,91130,ORPHA:91130,11,HP:0012103,Abnormality of the mitochondrion,Very frequent (99-80%),TAS,,,,[PMID:17273968],y,y +GARD:0016796,Orphanet,91135,ORPHA:91135,8,HP:0000973,Cutis laxa,Very frequent (99-80%),TAS,,,,[PMID:17110937],y,y +GARD:0016796,Orphanet,91135,ORPHA:91135,8,HP:0001102,Angioid streaks of the fundus,Frequent (79-30%),TAS,,,,[PMID:17110937],y,y +GARD:0016796,Orphanet,91135,ORPHA:91135,8,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,[PMID:17110937],y,y +GARD:0016796,Orphanet,91135,ORPHA:91135,8,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,[PMID:17110937],y,y +GARD:0016796,Orphanet,91135,ORPHA:91135,8,HP:0001928,Abnormality of coagulation,Very frequent (99-80%),TAS,,,,[PMID:17110937],y,y +GARD:0016796,Orphanet,91135,ORPHA:91135,8,HP:0002621,Atherosclerosis,Frequent (79-30%),TAS,,,,[PMID:17110937],y,y +GARD:0016796,Orphanet,91135,ORPHA:91135,8,HP:0004944,Dilatation of the cerebral artery,Very rare (<4-1%),TAS,,,,[PMID:17110937],y,y +GARD:0016796,Orphanet,91135,ORPHA:91135,8,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,[PMID:17110937],y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0000506,Telecanthus,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0000527,Long eyelashes,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0000537,Epicanthus inversus,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0000539,Abnormality of refraction,Occasional (29-5%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0000540,Hypermetropia,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0000602,Ophthalmoplegia,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0000957,Cafe-au-lait spot,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0000970,Anhidrosis,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0001477,Compensatory chin elevation,Frequent (79-30%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0001491,Congenital fibrosis of extraocular muscles,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0002003,Large forehead,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0005487,Prominent metopic ridge,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0006837,Congenital Horner syndrome,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0007188,Congenital facial diplegia,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0007544,Piebaldism,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0007687,Unilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0007728,Congenital miosis,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0007911,Congenital bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0007946,Unilateral narrow palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0008209,Premature ovarian insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0009058,Increased muscle lipid content,Occasional (29-5%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0012758,Neurodevelopmental delay,Very rare (<4-1%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016798,Orphanet,91411,ORPHA:91411,30,HP:0012803,Anisometropia,Occasional (29-5%),TAS,,,,"[PMID:29844360, PMID:30200099]",y,y +GARD:0016799,Orphanet,91416,ORPHA:91416,10,HP:0000491,Keratitis,Frequent (79-30%),TAS,,,,"[PMID:1815166, PMID:8740696, PMID:962658]",y,y +GARD:0016799,Orphanet,91416,ORPHA:91416,10,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:1815166, PMID:8740696, PMID:962658]",y,y +GARD:0016799,Orphanet,91416,ORPHA:91416,10,HP:0000509,Conjunctivitis,Frequent (79-30%),TAS,,,,"[PMID:1815166, PMID:8740696, PMID:962658]",y,y +GARD:0016799,Orphanet,91416,ORPHA:91416,10,HP:0000522,Alacrima,Very frequent (99-80%),TAS,,,,"[PMID:1815166, PMID:8740696, PMID:962658]",y,y +GARD:0016799,Orphanet,91416,ORPHA:91416,10,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:1815166, PMID:8740696, PMID:962658]",y,y +GARD:0016799,Orphanet,91416,ORPHA:91416,10,HP:0002571,Achalasia,Excluded (0%),TAS,,,,"[PMID:1815166, PMID:8740696, PMID:962658]",y,y +GARD:0016799,Orphanet,91416,ORPHA:91416,10,HP:0007732,Lacrimal gland hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:1815166, PMID:8740696, PMID:962658]",y,y +GARD:0016799,Orphanet,91416,ORPHA:91416,10,HP:0007820,Lacrimal punctal atresia,Occasional (29-5%),TAS,,,,"[PMID:1815166, PMID:8740696, PMID:962658]",y,y +GARD:0016799,Orphanet,91416,ORPHA:91416,10,HP:0009743,Distichiasis,Frequent (79-30%),TAS,,,,"[PMID:1815166, PMID:8740696, PMID:962658]",y,y +GARD:0016799,Orphanet,91416,ORPHA:91416,10,HP:0200020,Corneal erosion,Frequent (79-30%),TAS,,,,"[PMID:1815166, PMID:8740696, PMID:962658]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0000519,Developmental cataract,Frequent (79-30%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0000555,Leukocoria,Very frequent (99-80%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0000557,Buphthalmos,Occasional (29-5%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0000594,Shallow anterior chamber,Occasional (29-5%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0000667,Phthisis bulbi,Occasional (29-5%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0001104,Macular hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0007917,Tractional retinal detachment,Frequent (79-30%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0007968,Remnants of the hyaloid vascular system,Obligate (100%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0008052,Retinal fold,Occasional (29-5%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0009917,Persistent pupillary membrane,Frequent (79-30%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0009926,Epiphora,Occasional (29-5%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0010766,Ectopic calcification,Very rare (<4-1%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0011885,Hemorrhage of the eye,Occasional (29-5%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0012109,Angle closure glaucoma,Frequent (79-30%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0030743,Glial remnants anterior to the optic disc,Frequent (79-30%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016803,Orphanet,91495,ORPHA:91495,24,HP:0030744,Hyaloid vascular remnant and retrolental mass,Frequent (79-30%),TAS,,,,"[PMID:27582535, PMID:29031676, PMID:29207745, PMID:30375202, PMID:33728125]",y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0000787,Nephrolithiasis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0000843,Hyperparathyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0000944,Abnormality of the metaphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0000951,Abnormality of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0002148,Hypophosphatemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0002749,Osteomalacia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0003330,Abnormal bone structure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0006323,Premature loss of primary teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0009124,Abnormal adipose tissue morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0012062,Bone cyst,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016805,Orphanet,93160,ORPHA:93160,28,HP:0100670,Coarse metaphyseal trabecularization,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0001310,Dysmetria,Very frequent (99-80%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0002067,Bradykinesia,Occasional (29-5%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0002080,Intention tremor,Very frequent (99-80%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0002363,Abnormal brainstem morphology,Occasional (29-5%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0002839,Urinary bladder sphincter dysfunction,Frequent (79-30%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0012534,Dysesthesia,Frequent (79-30%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0030216,Inertia,Very frequent (99-80%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0100275,Diffuse cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016806,Orphanet,93256,ORPHA:93256,32,HP:0100515,Pollakisuria,Frequent (79-30%),TAS,,,,"[PMID:18686748, PMID:24491663]",y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0002410,Aqueductal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0008080,Hallux varus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0009601,Aplasia/Hypoplasia of the thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0010059,Broad hallux phalanx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0010109,Short hallux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0011318,Bicoronal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016807,Orphanet,93258,ORPHA:93258,21,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0000413,Atresia of the external auditory canal,Frequent (79-30%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0000453,Choanal atresia,Frequent (79-30%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0001601,Laryngomalacia,Frequent (79-30%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0002308,Chiari malformation,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0002410,Aqueductal stenosis,Frequent (79-30%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0002676,Cloverleaf skull,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0002779,Tracheomalacia,Frequent (79-30%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0008080,Hallux varus,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0009603,Deviation of the thumb,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0010059,Broad hallux phalanx,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0010109,Short hallux,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,[PMID:20301628],y,y +GARD:0016808,Orphanet,93259,ORPHA:93259,35,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,[PMID:20301628],y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0000244,Brachyturricephaly,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0000402,Stenosis of the external auditory canal,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0000453,Choanal atresia,Frequent (79-30%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0001601,Laryngomalacia,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0002308,Chiari malformation,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0002410,Aqueductal stenosis,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0002779,Tracheomalacia,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0008080,Hallux varus,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0010059,Broad hallux phalanx,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0010109,Short hallux,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016809,Orphanet,93260,ORPHA:93260,36,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:16740155, PMID:20301628]",y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000262,Turricephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000444,Convex nasal ridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000453,Choanal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0000956,Acanthosis nigricans,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0002308,Chiari malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0002516,Increased intracranial pressure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0005107,Abnormal sacrum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016810,Orphanet,93262,ORPHA:93262,28,HP:0100533,Inflammatory abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000239,Large fontanelles,Frequent (79-30%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000889,Abnormal clavicle morphology,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0001539,Omphalocele,Frequent (79-30%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0002676,Cloverleaf skull,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0002691,Platybasia,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0004331,Decreased skull ossification,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,[PMID:12081722],y,y +GARD:0016811,Orphanet,93267,ORPHA:93267,27,HP:0009623,Proximal placement of thumb,Frequent (79-30%),TAS,,,,[PMID:12081722],y,y +GARD:0016814,Orphanet,93283,ORPHA:93283,7,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016814,Orphanet,93283,ORPHA:93283,7,HP:0002655,Spondyloepiphyseal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016814,Orphanet,93283,ORPHA:93283,7,HP:0002758,Osteoarthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016814,Orphanet,93283,ORPHA:93283,7,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016814,Orphanet,93283,ORPHA:93283,7,HP:0003508,Proportionate short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016814,Orphanet,93283,ORPHA:93283,7,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016814,Orphanet,93283,ORPHA:93283,7,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016816,Orphanet,93302,ORPHA:93302,8,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016816,Orphanet,93302,ORPHA:93302,8,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016816,Orphanet,93302,ORPHA:93302,8,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016816,Orphanet,93302,ORPHA:93302,8,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016816,Orphanet,93302,ORPHA:93302,8,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016816,Orphanet,93302,ORPHA:93302,8,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0016816,Orphanet,93302,ORPHA:93302,8,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016816,Orphanet,93302,ORPHA:93302,8,HP:0010653,Abnormality of the falx cerebri,Occasional (29-5%),TAS,,,,,y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0001169,Broad palm,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0001191,Abnormal carpal morphology,Occasional (29-5%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0001367,Abnormal joint morphology,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0001769,Broad foot,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0002651,Spondyloepimetaphyseal dysplasia,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0002758,Osteoarthritis,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0002812,Coxa vara,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0005048,Synostosis of carpal bones,Occasional (29-5%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0008839,Hypoplastic pelvis,Frequent (79-30%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0009824,Upper limb undergrowth,Very frequent (99-80%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,[PMID:6772027],y,y +GARD:0016819,Orphanet,93351,ORPHA:93351,26,HP:0010743,Short metatarsal,Frequent (79-30%),TAS,,,,[PMID:6772027],y,y +GARD:0016821,Orphanet,93409,ORPHA:93409,7,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,[PMID:17236141],y,y +GARD:0016821,Orphanet,93409,ORPHA:93409,7,HP:0001822,Hallux valgus,Frequent (79-30%),TAS,,,,[PMID:17236141],y,y +GARD:0016821,Orphanet,93409,ORPHA:93409,7,HP:0004220,Short middle phalanx of the 5th finger,Very frequent (99-80%),TAS,,,,[PMID:17236141],y,y +GARD:0016821,Orphanet,93409,ORPHA:93409,7,HP:0004704,Short fifth metatarsal,Very frequent (99-80%),TAS,,,,[PMID:17236141],y,y +GARD:0016821,Orphanet,93409,ORPHA:93409,7,HP:0009577,Short middle phalanx of the 2nd finger,Very frequent (99-80%),TAS,,,,[PMID:17236141],y,y +GARD:0016821,Orphanet,93409,ORPHA:93409,7,HP:0009773,Symphalangism affecting the phalanges of the hand,Frequent (79-30%),TAS,,,,[PMID:17236141],y,y +GARD:0016821,Orphanet,93409,ORPHA:93409,7,HP:0010047,Short 5th metacarpal,Very frequent (99-80%),TAS,,,,[PMID:17236141],y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000161,Median cleft lip,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000818,Abnormality of the endocrine system,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000871,Panhypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000873,Diabetes insipidus,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0001344,Absent speech,Very rare (<4-1%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0001371,Flexion contracture,Very rare (<4-1%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0002270,Abnormality of the autonomic nervous system,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0002363,Abnormal brainstem morphology,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0002451,Limb dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0002540,Inability to walk,Very rare (<4-1%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0002793,Abnormal pattern of respiration,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0002871,Central apnea,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0005968,Temperature instability,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0006315,Solitary median maxillary central incisor,Very rare (<4-1%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0006528,Chronic lung disease,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0006979,Sleep-wake cycle disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0007301,Oromotor apraxia,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0009062,Infantile axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0009914,Cyclopia,Very rare (<4-1%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0009932,Single naris,Very rare (<4-1%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0010654,Aplasia of the falx cerebri,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0011442,Abnormal central motor function,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0011787,Central hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0011951,Aspiration pneumonia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0012285,Abnormal hypothalamus physiology,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0012718,Morphological abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0012806,Proboscis,Very rare (<4-1%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0031860,Abnormal heart rate variability,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0040064,Abnormality of limbs,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0040327,Abnormal morphology of the olfactory bulb,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0045005,Neural tube defect,Very rare (<4-1%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016830,Orphanet,93924,ORPHA:93924,72,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000161,Median cleft lip,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000818,Abnormality of the endocrine system,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000871,Panhypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0002033,Poor suck,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0002270,Abnormality of the autonomic nervous system,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0002363,Abnormal brainstem morphology,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0002793,Abnormal pattern of respiration,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0002871,Central apnea,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0005968,Temperature instability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0006315,Solitary median maxillary central incisor,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0006528,Chronic lung disease,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0006979,Sleep-wake cycle disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0007301,Oromotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0009062,Infantile axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0009914,Cyclopia,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0009932,Single naris,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0010654,Aplasia of the falx cerebri,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0011442,Abnormal central motor function,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0011787,Central hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0011951,Aspiration pneumonia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0012285,Abnormal hypothalamus physiology,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0012718,Morphological abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0012806,Proboscis,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0031860,Abnormal heart rate variability,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0040064,Abnormality of limbs,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0040327,Abnormal morphology of the olfactory bulb,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0045005,Neural tube defect,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016831,Orphanet,93925,ORPHA:93925,72,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000161,Median cleft lip,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000818,Abnormality of the endocrine system,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000871,Panhypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0002033,Poor suck,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0002270,Abnormality of the autonomic nervous system,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0002363,Abnormal brainstem morphology,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0002793,Abnormal pattern of respiration,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0002871,Central apnea,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0005968,Temperature instability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0006315,Solitary median maxillary central incisor,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0006528,Chronic lung disease,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0006979,Sleep-wake cycle disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0007301,Oromotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0009062,Infantile axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0009914,Cyclopia,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0009932,Single naris,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0010654,Aplasia of the falx cerebri,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0011442,Abnormal central motor function,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0011787,Central hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0011951,Aspiration pneumonia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0012285,Abnormal hypothalamus physiology,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0012718,Morphological abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0012806,Proboscis,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0031860,Abnormal heart rate variability,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0040064,Abnormality of limbs,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0040327,Abnormal morphology of the olfactory bulb,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0045005,Neural tube defect,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016832,Orphanet,93926,ORPHA:93926,72,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0000338,Hypomimic face,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0001621,Weak voice,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0001848,Calcaneovalgus deformity,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0002069,Bilateral tonic-clonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0002186,Apraxia,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0002345,Action tremor,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0002600,Hyporeflexia of lower limbs,Frequent (79-30%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0003438,Absent Achilles reflex,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0007076,Extrapyramidal muscular rigidity,Frequent (79-30%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0010527,Astereognosia,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0010529,Echolalia,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0010819,Atonic seizure,Frequent (79-30%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0011812,Agraphesthesia,Occasional (29-5%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016834,Orphanet,93952,ORPHA:93952,31,HP:0012391,Hyporeflexia of upper limbs,Frequent (79-30%),TAS,,,,"[PMID:11782983, PMID:26467484]",y,y +GARD:0016836,Orphanet,94122,ORPHA:94122,11,HP:0000479,Abnormal retinal morphology,Excluded (0%),TAS,,,,"[PMID:14556008, PMID:8845847]",y,y +GARD:0016836,Orphanet,94122,ORPHA:94122,11,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:14556008, PMID:8845847]",y,y +GARD:0016836,Orphanet,94122,ORPHA:94122,11,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:14556008, PMID:8845847]",y,y +GARD:0016836,Orphanet,94122,ORPHA:94122,11,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:14556008, PMID:8845847]",y,y +GARD:0016836,Orphanet,94122,ORPHA:94122,11,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:14556008, PMID:8845847]",y,y +GARD:0016836,Orphanet,94122,ORPHA:94122,11,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:14556008, PMID:8845847]",y,y +GARD:0016836,Orphanet,94122,ORPHA:94122,11,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:14556008, PMID:8845847]",y,y +GARD:0016836,Orphanet,94122,ORPHA:94122,11,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:14556008, PMID:8845847]",y,y +GARD:0016836,Orphanet,94122,ORPHA:94122,11,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:14556008, PMID:8845847]",y,y +GARD:0016836,Orphanet,94122,ORPHA:94122,11,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:14556008, PMID:8845847]",y,y +GARD:0016836,Orphanet,94122,ORPHA:94122,11,HP:0002470,Nonprogressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:14556008, PMID:8845847]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0000253,Progressive microcephaly,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0001302,Pachygyria,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0001320,Cerebellar vermis hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0002179,Opisthotonus,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0002187,"Intellectual disability, profound",Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0002389,Cavum septum pellucidum,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0002445,Tetraplegia,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0002463,Language impairment,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0002478,Progressive spastic quadriplegia,Very rare (<4-1%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0003265,Neonatal hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0006891,Thick cerebral cortex,Very frequent (99-80%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0007270,Atypical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0007772,Impaired smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0010818,Generalized tonic seizure,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0010850,EEG with spike-wave complexes,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0011153,Focal motor seizure,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0011201,EEG with changes in voltage,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0012469,Infantile spasms,Very frequent (99-80%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0012520,Dilation of Virchow-Robin spaces,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0020189,Posterior predominant thick cortex pachygyria,Occasional (29-5%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0020191,Anterior predominant thick cortex pachygyria,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0025336,Delayed ability to sit,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0031882,Agyria,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0032398,Dysgyria,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016838,Orphanet,95232,ORPHA:95232,44,HP:0200134,Epileptic encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:19667223, PMID:20301752, PMID:28440899]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0000818,Abnormality of the endocrine system,Occasional (29-5%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0001518,Small for gestational age,Very rare (<4-1%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0002032,Esophageal atresia,Occasional (29-5%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0008226,Androgen insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0008722,Urethral diverticulum,Very rare (<4-1%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0012435,Ventral shortening of foreskin,Frequent (79-30%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016840,Orphanet,95706,ORPHA:95706,16,HP:0100627,Displacement of the urethral meatus,Very frequent (99-80%),TAS,,,,"[PMID:20920735, PMID:28081624, PMID:29165774, PMID:30251425, PMID:8097257]",y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0000820,Abnormality of the thyroid gland,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0100028,Ectopic thyroid,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016841,Orphanet,95712,ORPHA:95712,18,HP:0100786,Hypersomnia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0008191,Thyroid agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016842,Orphanet,95713,ORPHA:95713,17,HP:0100786,Hypersomnia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0000282,Facial edema,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0000851,Congenital hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0000853,Goiter,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0002045,Hypothermia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0002925,Elevated circulating thyroid-stimulating hormone concentration,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0003265,Neonatal hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0004491,Large posterior fontanelle,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0006579,Prolonged neonatal jaundice,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0008263,Thyroid defect in oxidation and organification of iodide,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0008828,Delayed proximal femoral epiphyseal ossification,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0011437,Maternal autoimmune disease,Excluded (0%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0025482,Positive perchlorate discharge test,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0025483,Abnormal circulating thyroglobulin level,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0031219,Reduced radioactive iodine uptake,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0031220,Increased radioactive iodine uptake,Occasional (29-5%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016843,Orphanet,95716,ORPHA:95716,30,HP:0031507,Decreased circulating T4 level,Very frequent (99-80%),TAS,,,,"[PMID:20537182, PMID:28476227, PMID:30324792, PMID:33310921]",y,y +GARD:0016844,Orphanet,95719,ORPHA:95719,14,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016844,Orphanet,95719,ORPHA:95719,14,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016844,Orphanet,95719,ORPHA:95719,14,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016844,Orphanet,95719,ORPHA:95719,14,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016844,Orphanet,95719,ORPHA:95719,14,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016844,Orphanet,95719,ORPHA:95719,14,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016844,Orphanet,95719,ORPHA:95719,14,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016844,Orphanet,95719,ORPHA:95719,14,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016844,Orphanet,95719,ORPHA:95719,14,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016844,Orphanet,95719,ORPHA:95719,14,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016844,Orphanet,95719,ORPHA:95719,14,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016844,Orphanet,95719,ORPHA:95719,14,HP:0008191,Thyroid agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016844,Orphanet,95719,ORPHA:95719,14,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016844,Orphanet,95719,ORPHA:95719,14,HP:0100786,Hypersomnia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000593,Abnormal anterior chamber morphology,Very frequent (99-80%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000627,Posterior embryotoxon,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0007676,Hypoplasia of the iris,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0008499,High hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0009918,Ectopia pupillae,Occasional (29-5%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0011483,Anterior synechiae of the anterior chamber,Frequent (79-30%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016845,Orphanet,96125,ORPHA:96125,39,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:15578619, PMID:25817395]",y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000035,Abnormal testis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000716,Depression,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000717,Autism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001331,Absent septum pellucidum,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0001710,Conotruncal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0002121,Generalized non-motor (absence) seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0002133,Status epilepticus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0002300,Mutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0002381,Aphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0005469,Flat occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0010529,Echolalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0010808,Protruding tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0011097,Epileptic spasm,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0012157,Subcortical cerebral atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0100308,Cerebral cortical hemiatrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016846,Orphanet,96147,ORPHA:96147,56,HP:0100541,Femoral hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0000363,Abnormal earlobe morphology,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0000855,Insulin resistance,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0001162,Postaxial hand polydactyly,Very rare (<4-1%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0001274,Agenesis of corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0001830,Postaxial foot polydactyly,Very rare (<4-1%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0002573,Hematochezia,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0003256,Abnormality of the coagulation cascade,Frequent (79-30%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0003645,Prolonged partial thromboplastin time,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0008151,Prolonged prothrombin time,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0008250,Infantile hypercalcemia,Very rare (<4-1%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0010945,Fetal pyelectasis,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0011228,Horizontal eyebrow,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0011565,Common atrium,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0032152,Keratosis pilaris,Very rare (<4-1%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0040188,Osteochondrosis,Very rare (<4-1%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016847,Orphanet,96168,ORPHA:96168,35,HP:0100608,Metrorrhagia,Occasional (29-5%),TAS,,,,"[PMID:18162117, PMID:19610112, PMID:21199766, PMID:21595000, PMID:22847911, PMID:26012727, PMID:26645620, PMID:27067448]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0000826,Precocious puberty,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0001956,Truncal obesity,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0003124,Hypercholesterolemia,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0004904,Maturity-onset diabetes of the young,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016848,Orphanet,96184,ORPHA:96184,35,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,"[PMID:24891339, PMID:29468661]",y,y +GARD:0016853,Orphanet,97290,ORPHA:97290,14,HP:0000853,Goiter,Frequent (79-30%),TAS,,,,"[PMID:10211600, PMID:10843148]",y,y +GARD:0016853,Orphanet,97290,ORPHA:97290,14,HP:0002730,Chronic noninfectious lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:10211600, PMID:10843148]",y,y +GARD:0016853,Orphanet,97290,ORPHA:97290,14,HP:0002733,Abnormality of the lymph nodes,Frequent (79-30%),TAS,,,,"[PMID:10211600, PMID:10843148]",y,y +GARD:0016853,Orphanet,97290,ORPHA:97290,14,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,"[PMID:10211600, PMID:10843148]",y,y +GARD:0016853,Orphanet,97290,ORPHA:97290,14,HP:0002895,Papillary thyroid carcinoma,Very frequent (99-80%),TAS,,,,"[PMID:10211600, PMID:10843148]",y,y +GARD:0016853,Orphanet,97290,ORPHA:97290,14,HP:0003002,Breast carcinoma,Occasional (29-5%),TAS,,,,"[PMID:10211600, PMID:10843148]",y,y +GARD:0016853,Orphanet,97290,ORPHA:97290,14,HP:0003003,Colon cancer,Occasional (29-5%),TAS,,,,"[PMID:10211600, PMID:10843148]",y,y +GARD:0016853,Orphanet,97290,ORPHA:97290,14,HP:0005994,Nodular goiter,Very frequent (99-80%),TAS,,,,"[PMID:10211600, PMID:10843148]",y,y +GARD:0016853,Orphanet,97290,ORPHA:97290,14,HP:0006528,Chronic lung disease,Occasional (29-5%),TAS,,,,"[PMID:10211600, PMID:10843148]",y,y +GARD:0016853,Orphanet,97290,ORPHA:97290,14,HP:0006735,Renal cortical adenoma,Occasional (29-5%),TAS,,,,"[PMID:10211600, PMID:10843148]",y,y +GARD:0016853,Orphanet,97290,ORPHA:97290,14,HP:0006766,Papillary renal cell carcinoma,Very frequent (99-80%),TAS,,,,"[PMID:10211600, PMID:10843148]",y,y +GARD:0016853,Orphanet,97290,ORPHA:97290,14,HP:0011798,Renal oncocytoma,Occasional (29-5%),TAS,,,,"[PMID:10211600, PMID:10843148]",y,y +GARD:0016853,Orphanet,97290,ORPHA:97290,14,HP:0012288,Neoplasm of head and neck,Very frequent (99-80%),TAS,,,,"[PMID:10211600, PMID:10843148]",y,y +GARD:0016853,Orphanet,97290,ORPHA:97290,14,HP:3000037,Abnormal neck blood vessel morphology,Very frequent (99-80%),TAS,,,,"[PMID:10211600, PMID:10843148]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000060,Clitoral hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000064,Hypoplastic labia minora,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000709,Psychosis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000789,Infertility,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0001010,Hypopigmentation of the skin,Very rare (<4-1%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0002342,"Intellectual disability, moderate",Very rare (<4-1%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0002871,Central apnea,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0003241,External genital hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0005599,Hypopigmentation of hair,Very rare (<4-1%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0006889,"Intellectual disability, borderline",Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0007730,Iris hypopigmentation,Very rare (<4-1%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0007874,Almond-shaped palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0010627,Anterior pituitary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0011734,Central adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0011787,Central hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0012104,Parietal cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0012105,Occipital cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0012166,Skin-picking,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0012411,Premature pubarche,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0012412,Premature adrenarche,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0012650,Perisylvian polymicrogyria,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0025160,Abnormal temper tantrums,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0030339,Decreased circulating gonadotropin concentration,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0031100,Decreased inhibin B level,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0031169,Postterm pregnancy,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0031507,Decreased circulating T4 level,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0100739,Bulimia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016861,Orphanet,98754,ORPHA:98754,67,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:26062517, PMID:27777904]",y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0001935,Microcytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0009891,Underdeveloped supraorbital ridges,Occasional (29-5%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0009906,Aplasia/Hypoplasia of the earlobes,Frequent (79-30%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0011903,HbH hemoglobin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016862,Orphanet,98791,ORPHA:98791,32,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0000912,Sprengel anomaly,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0001605,Vocal cord paralysis,Very rare (<4-1%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0001639,Hypertrophic cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0001645,Sudden cardiac death,Very rare (<4-1%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0001678,Atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0001771,Achilles tendon contracture,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0002486,Myotonia,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0002747,Respiratory insufficiency due to muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0003141,Increased LDL cholesterol concentration,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0003306,Spinal rigidity,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0003418,Back pain,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0003805,Rimmed vacuoles,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0004631,Decreased cervical spine flexion due to contractures of posterior cervical muscles,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0005115,Supraventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0005155,Ventricular escape rhythm,Very rare (<4-1%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0006785,Limb-girdle muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0008948,Proximal upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0008956,Proximal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0008997,Proximal muscle weakness in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0009125,Lipodystrophy,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0011807,Type 1 muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016865,Orphanet,98853,ORPHA:98853,44,HP:0030117,Absent muscle fiber emerin,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0000912,Sprengel anomaly,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0001644,Dilated cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0001645,Sudden cardiac death,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0001678,Atrioventricular block,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0001771,Achilles tendon contracture,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0002486,Myotonia,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0002600,Hyporeflexia of lower limbs,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0003141,Increased LDL cholesterol concentration,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0003306,Spinal rigidity,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0003418,Back pain,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0003805,Rimmed vacuoles,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0004631,Decreased cervical spine flexion due to contractures of posterior cervical muscles,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0005115,Supraventricular arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0005155,Ventricular escape rhythm,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0006785,Limb-girdle muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0008948,Proximal upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0008956,Proximal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0008997,Proximal muscle weakness in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0009125,Lipodystrophy,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0011807,Type 1 muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016866,Orphanet,98855,ORPHA:98855,40,HP:0030117,Absent muscle fiber emerin,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10739764, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:22431096, PMID:23313286, PMID:4697975, PMID:5969090]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0001678,Atrioventricular block,Frequent (79-30%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0002522,Areflexia of lower limbs,Occasional (29-5%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0003306,Spinal rigidity,Very rare (<4-1%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0003323,Progressive muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0003327,Axial muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0003722,Neck flexor weakness,Occasional (29-5%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0005115,Supraventricular arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0005157,Concentric hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0005659,Thoracic kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0006957,Loss of ability to walk,Frequent (79-30%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0030192,Fatigable weakness of bulbar muscles,Occasional (29-5%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0030196,Fatigable weakness of respiratory muscles,Frequent (79-30%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016870,Orphanet,98909,ORPHA:98909,18,HP:0030319,Weakness of facial musculature,Occasional (29-5%),TAS,,,,"[PMID:15122708, PMID:23143191, PMID:7405006, PMID:8114783, PMID:8509778]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0006794,Loss of ability to walk in first decade,Frequent (79-30%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0009063,Progressive distal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0009073,Progressive proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016871,Orphanet,98911,ORPHA:98911,15,HP:0030226,Abnormal muscle fiber myotilin,Very frequent (99-80%),TAS,,,,"[PMID:12428213, PMID:16380616, PMID:3275904]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0000207,Triangular mouth,Very rare (<4-1%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0000303,Mandibular prognathia,Very rare (<4-1%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0000467,Neck muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0000597,Ophthalmoparesis,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0001612,Weak cry,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0001667,Right ventricular hypertrophy,Very rare (<4-1%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0001762,Talipes equinovarus,Very rare (<4-1%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002092,Pulmonary arterial hypertension,Very rare (<4-1%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002359,Frequent falls,Very rare (<4-1%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002643,Neonatal respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002783,Recurrent lower respiratory tract infections,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002791,Hypoventilation,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002815,Abnormality of the knee,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0002875,Exertional dyspnea,Very rare (<4-1%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0003324,Generalized muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0003327,Axial muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0003388,Easy fatigability,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0003398,Abnormal synaptic transmission at the neuromuscular junction,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0003403,EMG: decremental response of compound muscle action potential to repetitive nerve stimulation,Very frequent (99-80%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0003436,Prolonged miniature endplate currents,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0003443,Decreased size of nerve terminals,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0003554,Type 2 muscle fiber atrophy,Very rare (<4-1%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0003701,Proximal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0003803,Type 1 muscle fiber predominance,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0005216,Impaired mastication,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0006251,Limited wrist extension,Very rare (<4-1%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0007941,Limited extraocular movements,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0012379,Abnormal enzyme/coenzyme activity,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0030203,Unfavorable response of muscle weakness to acetylcholine esterase inhibitors,Frequent (79-30%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0030211,Slow pupillary light response,Occasional (29-5%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016872,Orphanet,98915,ORPHA:98915,54,HP:0030237,Hand muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:18180250, PMID:8390325, PMID:9758617]",y,y +GARD:0016873,Orphanet,98916,ORPHA:98916,13,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:12439896, PMID:1929520]",y,y +GARD:0016873,Orphanet,98916,ORPHA:98916,13,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12439896, PMID:1929520]",y,y +GARD:0016873,Orphanet,98916,ORPHA:98916,13,HP:0001954,Recurrent fever,Frequent (79-30%),TAS,,,,"[PMID:12439896, PMID:1929520]",y,y +GARD:0016873,Orphanet,98916,ORPHA:98916,13,HP:0002066,Gait ataxia,Excluded (0%),TAS,,,,"[PMID:12439896, PMID:1929520]",y,y +GARD:0016873,Orphanet,98916,ORPHA:98916,13,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,"[PMID:12439896, PMID:1929520]",y,y +GARD:0016873,Orphanet,98916,ORPHA:98916,13,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:12439896, PMID:1929520]",y,y +GARD:0016873,Orphanet,98916,ORPHA:98916,13,HP:0003383,Onion bulb formation,Occasional (29-5%),TAS,,,,"[PMID:12439896, PMID:1929520]",y,y +GARD:0016873,Orphanet,98916,ORPHA:98916,13,HP:0003445,EMG: neuropathic changes,Frequent (79-30%),TAS,,,,"[PMID:12439896, PMID:1929520]",y,y +GARD:0016873,Orphanet,98916,ORPHA:98916,13,HP:0005335,Sleepy facial expression,Frequent (79-30%),TAS,,,,"[PMID:12439896, PMID:1929520]",y,y +GARD:0016873,Orphanet,98916,ORPHA:98916,13,HP:0007131,Acute demyelinating polyneuropathy,Obligate (100%),TAS,,,,"[PMID:12439896, PMID:1929520]",y,y +GARD:0016873,Orphanet,98916,ORPHA:98916,13,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12439896, PMID:1929520]",y,y +GARD:0016873,Orphanet,98916,ORPHA:98916,13,HP:0012534,Dysesthesia,Frequent (79-30%),TAS,,,,"[PMID:12439896, PMID:1929520]",y,y +GARD:0016873,Orphanet,98916,ORPHA:98916,13,HP:0031162,Impaired oropharyngeal swallow response,Frequent (79-30%),TAS,,,,"[PMID:12439896, PMID:1929520]",y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0000751,Personality changes,Frequent (79-30%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0002060,Abnormal cerebral morphology,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0002340,Caudate atrophy,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0002476,Primitive reflex,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0010994,Abnormal corpus striatum morphology,Occasional (29-5%),TAS,,,,[PMID:14557581],y,y +GARD:0016874,Orphanet,98934,ORPHA:98934,18,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,[PMID:14557581],y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0000501,Glaucoma,Very rare (<4-1%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0000565,Esotropia,Very rare (<4-1%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0000613,Photophobia,Very rare (<4-1%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0000622,Blurred vision,Very rare (<4-1%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0000632,Lacrimation abnormality,Very rare (<4-1%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0007906,Ocular hypertension,Very rare (<4-1%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0007957,Corneal opacity,Very rare (<4-1%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0009918,Ectopia pupillae,Very rare (<4-1%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0011483,Anterior synechiae of the anterior chamber,Occasional (29-5%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0011490,Abnormal Descemet membrane morphology,Very frequent (99-80%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0011491,Reduced number of corneal endothelial cells,Very frequent (99-80%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0012040,Corneal stromal edema,Occasional (29-5%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0025358,Uveal ectropion,Occasional (29-5%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0032122,Very low visual acuity,Occasional (29-5%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0100692,Increased corneal curvature,Occasional (29-5%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0200026,Ocular pain,Very rare (<4-1%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016882,Orphanet,98973,ORPHA:98973,20,HP:0200065,Chorioretinal degeneration,Very rare (<4-1%),TAS,,,,"[PMID:27658681, PMID:28009792, PMID:28613630]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0000525,Abnormality iris morphology,Frequent (79-30%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0000587,Abnormality of the optic nerve,Frequent (79-30%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0000593,Abnormal anterior chamber morphology,Frequent (79-30%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0000603,Central scotoma,Very rare (<4-1%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0001138,Optic neuropathy,Frequent (79-30%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0007854,Glaucomatous visual field defect,Frequent (79-30%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0007906,Ocular hypertension,Frequent (79-30%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0007994,Peripheral visual field loss,Frequent (79-30%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0011003,High myopia,Occasional (29-5%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0012108,Open angle glaucoma,Frequent (79-30%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0012511,Temporal optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0012636,Retinal vein occlusion,Very rare (<4-1%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0012796,Increased cup-to-disc ratio,Occasional (29-5%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016883,Orphanet,98977,ORPHA:98977,15,HP:0025326,Retinal arterial occlusion,Very rare (<4-1%),TAS,,,,"[PMID:21911678, PMID:23358655, PMID:27050345, PMID:28910179, PMID:30855805]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0001651,Dextrocardia,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0001653,Mitral regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0001669,Transposition of the great arteries,Very rare (<4-1%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0001680,Coarctation of aorta,Very rare (<4-1%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0001708,Right ventricular failure,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0001719,Double outlet right ventricle,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0001750,Single ventricle,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0002092,Pulmonary arterial hypertension,Frequent (79-30%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0004383,Hypoplastic left heart,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0004415,Pulmonary artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0005253,Increased anterioposterior diameter of thorax,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0005949,Apneic episodes in infancy,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0009805,Low-output congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0011539,Atrial situs ambiguous,Frequent (79-30%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0011560,Mitral atresia,Very rare (<4-1%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0011719,Supracardiac total anomalous pulmonary venous connection,Frequent (79-30%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0011720,Cardiac total anomalous pulmonary venous connection,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0011721,Infracardiac total anomalous pulmonary venous connection,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0011722,Mixed total anomalous pulmonary venous connection,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0012304,Hypoplastic aortic arch,Very rare (<4-1%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0012763,Paroxysmal dyspnea,Frequent (79-30%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0030853,Heterotaxy,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0030918,Low 1-minute APGAR score,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016896,Orphanet,99125,ORPHA:99125,40,HP:0030919,Low 5-minute APGAR score,Occasional (29-5%),TAS,,,,"[PMID:14426379, PMID:20392458, PMID:23641468, PMID:29796693, PMID:30841831, PMID:5097138]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000914,Shield chest,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0001048,Cavernous hemangioma,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0001367,Abnormal joint morphology,Frequent (79-30%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0001684,Secundum atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0002453,Abnormal globus pallidus morphology,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0002828,Multiple joint contractures,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0002970,Genu varum,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0003016,Metaphyseal widening,Very frequent (99-80%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0003021,Metaphyseal cupping,Frequent (79-30%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0003025,Metaphyseal irregularity,Very frequent (99-80%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0003029,Enlargement of the ankles,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0003301,Irregular vertebral endplates,Frequent (79-30%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0003796,Irregular iliac crest,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0004242,Broad carpal bones,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0004626,Lumbar scoliosis,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0004820,Acute myelomonocytic leukemia,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0004948,Vascular tortuosity,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0005701,Multiple enchondromatosis,Very frequent (99-80%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0005868,Metaphyseal enchondromatosis,Very frequent (99-80%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0007033,Cerebellar dysplasia,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0007361,Abnormal pons morphology,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0007375,Abnormality of the septum pellucidum,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0007486,Cavernous hemangioma of the face,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0009803,Short phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0010576,Intracranial cystic lesion,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0011681,Subarterial ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0011849,Abnormal bone ossification,Very frequent (99-80%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0012321,D-2-hydroxyglutaric aciduria,Obligate (100%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0012762,Cerebral white matter atrophy,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0012766,Widened cerebral subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0025473,Hyperpigmented papule,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0030294,Metaphyseal chondromatosis of tibia,Frequent (79-30%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0030295,Metaphyseal chondromatosis of femur,Frequent (79-30%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0030296,Metaphyseal chondromatosis of radius,Frequent (79-30%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0030297,Metaphyseal chondromatosis of ulna,Frequent (79-30%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0030866,Large knee,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0100255,Metaphyseal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0100764,Lymphangioma,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016902,Orphanet,99646,ORPHA:99646,71,HP:0200035,Skin plaque,Occasional (29-5%),TAS,,,,"[PMID:22025298, PMID:22639207, PMID:29744569, PMID:32166993]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0001288,Gait disturbance,Very rare (<4-1%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0001319,Neonatal hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0002104,Apnea,Very rare (<4-1%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0002491,Spasticity of facial muscles,Frequent (79-30%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0003552,Muscle stiffness,Very frequent (99-80%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0003701,Proximal muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0003740,Myotonia with warm-up phenomenon,Very rare (<4-1%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0008967,Exercise-induced muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0010307,Stridor,Very rare (<4-1%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0012899,Handgrip myotonia,Occasional (29-5%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0012900,Myotonia of the face,Occasional (29-5%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0012902,Myotonia of the lower limb,Frequent (79-30%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0012903,Myotonia of the upper limb,Frequent (79-30%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0012904,Cold-sensitive myotonia,Excluded (0%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0025425,Laryngospasm,Very rare (<4-1%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0030842,Choking episodes,Very rare (<4-1%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016904,Orphanet,99734,ORPHA:99734,22,HP:0100284,EMG: myotonic discharges,Very frequent (99-80%),TAS,,,,"[PMID:30341599, PMID:32270509]",y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0000597,Ophthalmoparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0002486,Myotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0003394,Muscle spasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0003712,Skeletal muscle hypertrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0003720,Generalized muscle hypertrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0016905,Orphanet,99735,ORPHA:99735,21,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0016906,Orphanet,99736,ORPHA:99736,12,HP:0000597,Ophthalmoparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016906,Orphanet,99736,ORPHA:99736,12,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016906,Orphanet,99736,ORPHA:99736,12,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0016906,Orphanet,99736,ORPHA:99736,12,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016906,Orphanet,99736,ORPHA:99736,12,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0016906,Orphanet,99736,ORPHA:99736,12,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016906,Orphanet,99736,ORPHA:99736,12,HP:0002486,Myotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016906,Orphanet,99736,ORPHA:99736,12,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016906,Orphanet,99736,ORPHA:99736,12,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,,y,y +GARD:0016906,Orphanet,99736,ORPHA:99736,12,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0016906,Orphanet,99736,ORPHA:99736,12,HP:0003712,Skeletal muscle hypertrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016906,Orphanet,99736,ORPHA:99736,12,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0016907,Orphanet,99772,ORPHA:99772,13,HP:0000185,Cleft soft palate,Frequent (79-30%),TAS,,,,"[PMID:10595666, PMID:14663236, PMID:22523495, PMID:27617110]",y,y +GARD:0016907,Orphanet,99772,ORPHA:99772,13,HP:0000220,Velopharyngeal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:10595666, PMID:14663236, PMID:22523495, PMID:27617110]",y,y +GARD:0016907,Orphanet,99772,ORPHA:99772,13,HP:0000327,Hypoplasia of the maxilla,Occasional (29-5%),TAS,,,,"[PMID:10595666, PMID:14663236, PMID:22523495, PMID:27617110]",y,y +GARD:0016907,Orphanet,99772,ORPHA:99772,13,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,"[PMID:10595666, PMID:14663236, PMID:22523495, PMID:27617110]",y,y +GARD:0016907,Orphanet,99772,ORPHA:99772,13,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10595666, PMID:14663236, PMID:22523495, PMID:27617110]",y,y +GARD:0016907,Orphanet,99772,ORPHA:99772,13,HP:0001611,Nasal speech,Occasional (29-5%),TAS,,,,"[PMID:10595666, PMID:14663236, PMID:22523495, PMID:27617110]",y,y +GARD:0016907,Orphanet,99772,ORPHA:99772,13,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:10595666, PMID:14663236, PMID:22523495, PMID:27617110]",y,y +GARD:0016907,Orphanet,99772,ORPHA:99772,13,HP:0009088,Speech articulation difficulties,Occasional (29-5%),TAS,,,,"[PMID:10595666, PMID:14663236, PMID:22523495, PMID:27617110]",y,y +GARD:0016907,Orphanet,99772,ORPHA:99772,13,HP:0010863,Receptive language delay,Frequent (79-30%),TAS,,,,"[PMID:10595666, PMID:14663236, PMID:22523495, PMID:27617110]",y,y +GARD:0016907,Orphanet,99772,ORPHA:99772,13,HP:0011219,Short face,Occasional (29-5%),TAS,,,,"[PMID:10595666, PMID:14663236, PMID:22523495, PMID:27617110]",y,y +GARD:0016907,Orphanet,99772,ORPHA:99772,13,HP:0011469,Nasal regurgitation,Frequent (79-30%),TAS,,,,"[PMID:10595666, PMID:14663236, PMID:22523495, PMID:27617110]",y,y +GARD:0016907,Orphanet,99772,ORPHA:99772,13,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:10595666, PMID:14663236, PMID:22523495, PMID:27617110]",y,y +GARD:0016907,Orphanet,99772,ORPHA:99772,13,HP:0200136,Oral-pharyngeal dysphagia,Frequent (79-30%),TAS,,,,"[PMID:10595666, PMID:14663236, PMID:22523495, PMID:27617110]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0000677,Oligodontia,Obligate (100%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0000679,Taurodontia,Occasional (29-5%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0000685,Hypoplasia of teeth,Occasional (29-5%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0000689,Dental malocclusion,Frequent (79-30%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0000690,Agenesis of maxillary lateral incisor,Frequent (79-30%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0000696,Delayed eruption of permanent teeth,Frequent (79-30%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0005216,Impaired mastication,Very frequent (99-80%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0006289,Agenesis of central incisor,Frequent (79-30%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0006297,Enamel hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0006336,Short dental root,Frequent (79-30%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0006342,Peg-shaped maxillary lateral incisors,Occasional (29-5%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0006344,Abnormality of primary molar morphology,Occasional (29-5%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0006482,Abnormality of dental morphology,Occasional (29-5%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0011051,Agenesis of premolar,Frequent (79-30%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0011053,Agenesis of mandibular premolar,Occasional (29-5%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0011056,Agenesis of first permanent molar tooth,Frequent (79-30%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0011078,Abnormality of canine,Occasional (29-5%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0011219,Short face,Occasional (29-5%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016908,Orphanet,99798,ORPHA:99798,23,HP:0012472,Eclabion,Occasional (29-5%),TAS,,,,"[PMID:28401166, PMID:29271123, PMID:30172942, PMID:31375234]",y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0002251,Aganglionic megacolon,Very frequent (99-80%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0003005,Ganglioneuroma,Occasional (29-5%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0003006,Neuroblastoma,Occasional (29-5%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0005957,Breathing dysregulation,Very frequent (99-80%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0007110,Central hypoventilation,Very frequent (99-80%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0010536,Central sleep apnea,Very frequent (99-80%),TAS,,,,[PMID:26086998],y,y +GARD:0016909,Orphanet,99803,ORPHA:99803,19,HP:0012332,Abnormal autonomic nervous system physiology,Very frequent (99-80%),TAS,,,,[PMID:26086998],y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0001085,Papilledema,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0001103,Abnormal macular morphology,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0001137,Alternating esotropia,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0001909,Leukemia,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002176,Spinal cord compression,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002249,Melena,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002573,Hematochezia,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002665,Lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002671,Basal cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002884,Hepatoblastoma,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002885,Medulloblastoma,Very frequent (99-80%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002888,Ependymoma,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002890,Thyroid carcinoma,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002893,Pituitary adenoma,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0002895,Papillary thyroid carcinoma,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0003003,Colon cancer,Very frequent (99-80%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0005227,Adenomatous colonic polyposis,Very frequent (99-80%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0007129,Cerebellar medulloblastoma,Frequent (79-30%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0009592,Astrocytoma,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0009733,Glioma,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0011512,Hyperpigmentation of the fundus,Very frequent (99-80%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0012174,Glioblastoma multiforme,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0030434,Pilomatrixoma,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0030553,Visual acuity no light perception,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0030692,Brain neoplasm,Obligate (100%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0031459,Soft tissue neoplasm,Occasional (29-5%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0100006,Neoplasm of the central nervous system,Very frequent (99-80%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0100014,Epiretinal membrane,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0100245,Desmoid tumors,Very rare (<4-1%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0200008,Intestinal polyposis,Frequent (79-30%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016912,Orphanet,99818,ORPHA:99818,42,HP:0200040,Epidermoid cyst,Frequent (79-30%),TAS,,,,"[PMID:24698620, PMID:27617147, PMID:27911673, PMID:30521203]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0000713,Agitation,Frequent (79-30%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0000836,Hyperthyroidism,Obligate (100%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0000853,Goiter,Very frequent (99-80%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0002378,Hand tremor,Very frequent (99-80%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0008249,Thyroid hyperplasia,Very frequent (99-80%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0011784,Thyrotoxicosis with diffuse goiter,Very frequent (99-80%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0011790,Activating thyroid-stimulating hormone receptor defect,Obligate (100%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0012188,Hyperemesis gravidarum,Obligate (100%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016913,Orphanet,99819,ORPHA:99819,15,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0000853,Goiter,Excluded (0%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0000870,Increased circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0002925,Elevated circulating thyroid-stimulating hormone concentration,Excluded (0%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0005990,Thyroid hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0006579,Prolonged neonatal jaundice,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0008202,Reduced circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0011437,Maternal autoimmune disease,Excluded (0%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0025483,Abnormal circulating thyroglobulin level,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0025502,Overweight,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0031219,Reduced radioactive iodine uptake,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0031507,Decreased circulating T4 level,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016914,Orphanet,99832,ORPHA:99832,23,HP:0032210,Decreased circulating free T3,Frequent (79-30%),TAS,,,,"[PMID:19213692, PMID:20537182, PMID:26416826, PMID:28549061, PMID:30374425]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0000467,Neck muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0002153,Hyperkalemia,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0002905,Hyperphosphatemia,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0003554,Type 2 muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0003558,Viral infection-induced rhabdomyolysis,Frequent (79-30%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0003652,Recurrent myoglobinuria,Obligate (100%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0003738,Exercise-induced myalgia,Frequent (79-30%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0005216,Impaired mastication,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0005521,Disseminated intravascular coagulation,Very rare (<4-1%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0007340,Lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0008305,Exercise-induced myoglobinuria,Frequent (79-30%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0008997,Proximal muscle weakness in upper limbs,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0010969,Abnormality of glycolipid metabolism,Frequent (79-30%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0012544,Elevated aldolase level,Frequent (79-30%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0030195,Fatigable weakness of swallowing muscles,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0030234,Highly elevated creatine kinase,Very frequent (99-80%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0040319,Dark urine,Very frequent (99-80%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0045037,Abnormality of jaw muscles,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0100520,Oliguria,Occasional (29-5%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016916,Orphanet,99845,ORPHA:99845,32,HP:0100614,Myositis,Frequent (79-30%),TAS,,,,"[PMID:24946698, PMID:26909335, PMID:32129275]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0000099,Glomerulonephritis,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0001370,Rheumatoid arthritis,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0001909,Leukemia,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0001915,Aplastic anemia,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0002725,Systemic lupus erythematosus,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0003326,Myalgia,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0005560,Imbalanced hemoglobin synthesis,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0007108,Demyelinating peripheral neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0007378,Neoplasm of the gastrointestinal tract,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0012288,Neoplasm of head and neck,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0012410,Pure red cell aplasia,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0012539,Non-Hodgkin lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0030166,Night sweats,Occasional (29-5%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0030208,Anti-acetylcholine receptor antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0031041,Obstruction of the superior vena cava,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0031378,Abnormal lymphocyte proliferation,Frequent (79-30%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0031409,Abnormal lymphocyte physiology,Frequent (79-30%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0045026,Abnormality of the mediastinum,Occasional (29-5%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0100031,Neoplasm of the thyroid gland,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0100279,Ulcerative colitis,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0100324,Scleroderma,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0100526,Neoplasm of the lung,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0100527,Neoplasia of the pleura,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0100614,Myositis,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016922,Orphanet,99867,ORPHA:99867,37,HP:0100787,Prostate neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:26818050, PMID:28851660]",y,y +GARD:0016923,Orphanet,99879,ORPHA:99879,14,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,[PMID:23652676],y,y +GARD:0016923,Orphanet,99879,ORPHA:99879,14,HP:0000121,Nephrocalcinosis,Very frequent (99-80%),TAS,,,,[PMID:23652676],y,y +GARD:0016923,Orphanet,99879,ORPHA:99879,14,HP:0000934,Chondrocalcinosis,Very frequent (99-80%),TAS,,,,[PMID:23652676],y,y +GARD:0016923,Orphanet,99879,ORPHA:99879,14,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,[PMID:23652676],y,y +GARD:0016923,Orphanet,99879,ORPHA:99879,14,HP:0002148,Hypophosphatemia,Very frequent (99-80%),TAS,,,,[PMID:23652676],y,y +GARD:0016923,Orphanet,99879,ORPHA:99879,14,HP:0002150,Hypercalciuria,Very frequent (99-80%),TAS,,,,[PMID:23652676],y,y +GARD:0016923,Orphanet,99879,ORPHA:99879,14,HP:0002897,Parathyroid adenoma,Very frequent (99-80%),TAS,,,,[PMID:23652676],y,y +GARD:0016923,Orphanet,99879,ORPHA:99879,14,HP:0003072,Hypercalcemia,Very frequent (99-80%),TAS,,,,[PMID:23652676],y,y +GARD:0016923,Orphanet,99879,ORPHA:99879,14,HP:0003109,Hyperphosphaturia,Very frequent (99-80%),TAS,,,,[PMID:23652676],y,y +GARD:0016923,Orphanet,99879,ORPHA:99879,14,HP:0003165,Elevated circulating parathyroid hormone level,Very frequent (99-80%),TAS,,,,[PMID:23652676],y,y +GARD:0016923,Orphanet,99879,ORPHA:99879,14,HP:0008200,Primary hyperparathyroidism,Very frequent (99-80%),TAS,,,,[PMID:23652676],y,y +GARD:0016923,Orphanet,99879,ORPHA:99879,14,HP:0008250,Infantile hypercalcemia,Very frequent (99-80%),TAS,,,,[PMID:23652676],y,y +GARD:0016923,Orphanet,99879,ORPHA:99879,14,HP:0011458,Abdominal symptom,Occasional (29-5%),TAS,,,,[PMID:23652676],y,y +GARD:0016923,Orphanet,99879,ORPHA:99879,14,HP:0040160,Generalized osteoporosis,Very frequent (99-80%),TAS,,,,[PMID:23652676],y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0000662,Nyctalopia,Very rare (<4-1%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0001605,Vocal cord paralysis,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0002143,Abnormality of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0002174,Postural tremor,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0002378,Hand tremor,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0002495,Impaired vibratory sensation,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0002522,Areflexia of lower limbs,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0002601,Paresis of extensor muscles of the big toe,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0003376,Steppage gait,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0003390,Sensory axonal neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0003438,Absent Achilles reflex,Very frequent (99-80%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0003444,EMG: chronic denervation signs,Very frequent (99-80%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0003474,Somatic sensory dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0003731,Quadriceps muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0006460,Increased laxity of ankles,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0006844,Absent patellar reflexes,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0006915,Inability to walk by childhood/adolescence,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0008944,Distal lower limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0009027,Foot dorsiflexor weakness,Very frequent (99-80%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0010829,Impaired temperature sensation,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0012452,Restless legs,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0012513,Upper limb pain,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0025238,Foot pain,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0030237,Hand muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016925,Orphanet,99947,ORPHA:99947,45,HP:0031108,Triceps weakness,Occasional (29-5%),TAS,,,,"[PMID:18946002, PMID:27043305, PMID:27154191, PMID:30642740, PMID:30649465, PMID:9409358]",y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0000737,Irritability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0000741,Apathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0004372,Reduced consciousness/confusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0100021,Cerebral palsy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016926,Orphanet,99966,ORPHA:99966,16,HP:0100836,Malignant neoplasm of the central nervous system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016927,Orphanet,99976,ORPHA:99976,10,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016927,Orphanet,99976,ORPHA:99976,10,HP:0001864,Clinodactyly of the 5th toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016927,Orphanet,99976,ORPHA:99976,10,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0016927,Orphanet,99976,ORPHA:99976,10,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016927,Orphanet,99976,ORPHA:99976,10,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0016927,Orphanet,99976,ORPHA:99976,10,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016927,Orphanet,99976,ORPHA:99976,10,HP:0011459,Esophageal carcinoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016927,Orphanet,99976,ORPHA:99976,10,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0016927,Orphanet,99976,ORPHA:99976,10,HP:0100580,Barrett esophagus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016927,Orphanet,99976,ORPHA:99976,10,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0016929,Orphanet,100006,ORPHA:100006,10,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016929,Orphanet,100006,ORPHA:100006,10,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016929,Orphanet,100006,ORPHA:100006,10,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016929,Orphanet,100006,ORPHA:100006,10,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016929,Orphanet,100006,ORPHA:100006,10,HP:0001297,Stroke,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016929,Orphanet,100006,ORPHA:100006,10,HP:0001342,Cerebral hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016929,Orphanet,100006,ORPHA:100006,10,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016929,Orphanet,100006,ORPHA:100006,10,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,,y,y +GARD:0016929,Orphanet,100006,ORPHA:100006,10,HP:0011970,Cerebral amyloid angiopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0016929,Orphanet,100006,ORPHA:100006,10,HP:0100613,Death in early adulthood,Occasional (29-5%),TAS,,,,,y,y +GARD:0016930,Orphanet,100008,ORPHA:100008,5,HP:0001297,Stroke,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016930,Orphanet,100008,ORPHA:100008,5,HP:0001342,Cerebral hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016930,Orphanet,100008,ORPHA:100008,5,HP:0011034,Amyloidosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016930,Orphanet,100008,ORPHA:100008,5,HP:0011970,Cerebral amyloid angiopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016930,Orphanet,100008,ORPHA:100008,5,HP:0100613,Death in early adulthood,Occasional (29-5%),TAS,,,,,y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0000172,Abnormal uvula morphology,Occasional (29-5%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0000282,Facial edema,Very frequent (99-80%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0005225,Intestinal edema,Very frequent (99-80%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0005348,Inspiratory stridor,Occasional (29-5%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0005483,Abnormal epiglottis morphology,Occasional (29-5%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0007514,Edema of the dorsum of hands,Very frequent (99-80%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0011855,Pharyngeal edema,Occasional (29-5%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0011971,Dermatographic urticaria,Very frequent (99-80%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0012027,Laryngeal edema,Very frequent (99-80%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0012252,Abnormal respiratory system morphology,Very frequent (99-80%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0025349,Limbal edema,Very frequent (99-80%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0040315,Tongue edema,Very frequent (99-80%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0100736,Abnormal soft palate morphology,Occasional (29-5%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016933,Orphanet,100050,ORPHA:100050,26,HP:0100755,Abnormality of salivation,Frequent (79-30%),TAS,,,,"[PMID:22299312, PMID:23283143, PMID:26661330]",y,y +GARD:0016936,Orphanet,100057,ORPHA:100057,13,HP:0000282,Facial edema,Very frequent (99-80%),TAS,,,,"[PMID:26842379, PMID:28818177, PMID:28994183, PMID:29884969, PMID:31864442]",y,y +GARD:0016936,Orphanet,100057,ORPHA:100057,13,HP:0000989,Pruritus,Excluded (0%),TAS,,,,"[PMID:26842379, PMID:28818177, PMID:28994183, PMID:29884969, PMID:31864442]",y,y +GARD:0016936,Orphanet,100057,ORPHA:100057,13,HP:0001025,Urticaria,Excluded (0%),TAS,,,,"[PMID:26842379, PMID:28818177, PMID:28994183, PMID:29884969, PMID:31864442]",y,y +GARD:0016936,Orphanet,100057,ORPHA:100057,13,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:26842379, PMID:28818177, PMID:28994183, PMID:29884969, PMID:31864442]",y,y +GARD:0016936,Orphanet,100057,ORPHA:100057,13,HP:0002781,Upper airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:26842379, PMID:28818177, PMID:28994183, PMID:29884969, PMID:31864442]",y,y +GARD:0016936,Orphanet,100057,ORPHA:100057,13,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,"[PMID:26842379, PMID:28818177, PMID:28994183, PMID:29884969, PMID:31864442]",y,y +GARD:0016936,Orphanet,100057,ORPHA:100057,13,HP:0011855,Pharyngeal edema,Occasional (29-5%),TAS,,,,"[PMID:26842379, PMID:28818177, PMID:28994183, PMID:29884969, PMID:31864442]",y,y +GARD:0016936,Orphanet,100057,ORPHA:100057,13,HP:0012027,Laryngeal edema,Occasional (29-5%),TAS,,,,"[PMID:26842379, PMID:28818177, PMID:28994183, PMID:29884969, PMID:31864442]",y,y +GARD:0016936,Orphanet,100057,ORPHA:100057,13,HP:0025018,Abnormal capillary physiology,Very frequent (99-80%),TAS,,,,"[PMID:26842379, PMID:28818177, PMID:28994183, PMID:29884969, PMID:31864442]",y,y +GARD:0016936,Orphanet,100057,ORPHA:100057,13,HP:0031244,Swollen lip,Frequent (79-30%),TAS,,,,"[PMID:26842379, PMID:28818177, PMID:28994183, PMID:29884969, PMID:31864442]",y,y +GARD:0016936,Orphanet,100057,ORPHA:100057,13,HP:0040315,Tongue edema,Frequent (79-30%),TAS,,,,"[PMID:26842379, PMID:28818177, PMID:28994183, PMID:29884969, PMID:31864442]",y,y +GARD:0016936,Orphanet,100057,ORPHA:100057,13,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,"[PMID:26842379, PMID:28818177, PMID:28994183, PMID:29884969, PMID:31864442]",y,y +GARD:0016936,Orphanet,100057,ORPHA:100057,13,HP:0100665,Angioedema,Obligate (100%),TAS,,,,"[PMID:26842379, PMID:28818177, PMID:28994183, PMID:29884969, PMID:31864442]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0000711,Restlessness,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0001271,Polyneuropathy,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0002572,Episodic vomiting,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0003690,Limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0005547,Myeloproliferative disorder,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0005946,Ventilator dependence with inability to wean,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0006466,Ankle flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0007159,Fluctuations in consciousness,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0007178,Motor polyneuropathy,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0010472,Abnormal circulating porphyrin concentration,Frequent (79-30%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0011121,Abnormality of skin morphology,Excluded (0%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0012187,Increased erythrocyte protoporphyrin concentration,Frequent (79-30%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0012217,Increased urinary porphobilinogen,Frequent (79-30%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0030272,Abnormal erythrocyte enzyme level,Frequent (79-30%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0031258,Delirium,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0033010,Increased fecal coproporphyrin 3,Frequent (79-30%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0040322,Purple urine,Frequent (79-30%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016937,Orphanet,100924,ORPHA:100924,43,HP:0100852,Abnormal fear/anxiety-related behavior,Occasional (29-5%),TAS,,,,"[PMID:30766957, PMID:32809671]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0000656,Ectropion,Frequent (79-30%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0000972,Palmoplantar hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0001019,Erythroderma,Frequent (79-30%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0001036,Parakeratosis,Frequent (79-30%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0002828,Multiple joint contractures,Occasional (29-5%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0007460,Autoamputation of digits,Frequent (79-30%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0007479,Congenital nonbullous ichthyosiform erythroderma,Frequent (79-30%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0008070,Sparse hair,Occasional (29-5%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0008404,Nail dystrophy,Occasional (29-5%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0010829,Impaired temperature sensation,Frequent (79-30%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0012472,Eclabion,Frequent (79-30%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0025092,Epidermal acanthosis,Very frequent (99-80%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0025524,Palmoplantar scaling skin,Excluded (0%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016938,Orphanet,100976,ORPHA:100976,18,HP:0040189,Scaling skin,Very frequent (99-80%),TAS,,,,"[PMID:10232404, PMID:19434086, PMID:22739337, PMID:28403434, PMID:30693114]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0002186,Apraxia,Frequent (79-30%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0002476,Primitive reflex,Frequent (79-30%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0003134,Abnormality of peripheral nerve conduction,Frequent (79-30%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0006892,Frontotemporal cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0010526,Dysgraphia,Frequent (79-30%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016939,Orphanet,101001,ORPHA:101001,19,HP:0012075,Personality disorder,Frequent (79-30%),TAS,,,,"[PMID:14564668, PMID:24451228]",y,y +GARD:0016940,Orphanet,101007,ORPHA:101007,9,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,[PMID:15455396],y,y +GARD:0016940,Orphanet,101007,ORPHA:101007,9,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,[PMID:15455396],y,y +GARD:0016940,Orphanet,101007,ORPHA:101007,9,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:15455396],y,y +GARD:0016940,Orphanet,101007,ORPHA:101007,9,HP:0002075,Dysdiadochokinesis,Occasional (29-5%),TAS,,,,[PMID:15455396],y,y +GARD:0016940,Orphanet,101007,ORPHA:101007,9,HP:0002395,Lower limb hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:15455396],y,y +GARD:0016940,Orphanet,101007,ORPHA:101007,9,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:15455396],y,y +GARD:0016940,Orphanet,101007,ORPHA:101007,9,HP:0005340,Spastic/hyperactive bladder,Very frequent (99-80%),TAS,,,,[PMID:15455396],y,y +GARD:0016940,Orphanet,101007,ORPHA:101007,9,HP:0006938,Impaired vibration sensation at ankles,Very frequent (99-80%),TAS,,,,[PMID:15455396],y,y +GARD:0016940,Orphanet,101007,ORPHA:101007,9,HP:0007377,Abnormality of somatosensory evoked potentials,Occasional (29-5%),TAS,,,,[PMID:15455396],y,y +GARD:0016941,Orphanet,101008,ORPHA:101008,13,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:15786464, PMID:23176821]",y,y +GARD:0016941,Orphanet,101008,ORPHA:101008,13,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:15786464, PMID:23176821]",y,y +GARD:0016941,Orphanet,101008,ORPHA:101008,13,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:15786464, PMID:23176821]",y,y +GARD:0016941,Orphanet,101008,ORPHA:101008,13,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:15786464, PMID:23176821]",y,y +GARD:0016941,Orphanet,101008,ORPHA:101008,13,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:15786464, PMID:23176821]",y,y +GARD:0016941,Orphanet,101008,ORPHA:101008,13,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:15786464, PMID:23176821]",y,y +GARD:0016941,Orphanet,101008,ORPHA:101008,13,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:15786464, PMID:23176821]",y,y +GARD:0016941,Orphanet,101008,ORPHA:101008,13,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:15786464, PMID:23176821]",y,y +GARD:0016941,Orphanet,101008,ORPHA:101008,13,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:15786464, PMID:23176821]",y,y +GARD:0016941,Orphanet,101008,ORPHA:101008,13,HP:0006944,Abolished vibration sense,Frequent (79-30%),TAS,,,,"[PMID:15786464, PMID:23176821]",y,y +GARD:0016941,Orphanet,101008,ORPHA:101008,13,HP:0007021,Pain insensitivity,Frequent (79-30%),TAS,,,,"[PMID:15786464, PMID:23176821]",y,y +GARD:0016941,Orphanet,101008,ORPHA:101008,13,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15786464, PMID:23176821]",y,y +GARD:0016941,Orphanet,101008,ORPHA:101008,13,HP:0010830,Impaired tactile sensation,Frequent (79-30%),TAS,,,,"[PMID:15786464, PMID:23176821]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0000570,Abnormal saccadic eye movements,Frequent (79-30%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0002317,Unsteady gait,Very frequent (99-80%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0002395,Lower limb hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0008969,Leg muscle stiffness,Very frequent (99-80%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0012407,Scissor gait,Frequent (79-30%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016942,Orphanet,101010,ORPHA:101010,15,HP:0100275,Diffuse cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:16434418, PMID:22258533]",y,y +GARD:0016946,Orphanet,103918,ORPHA:103918,12,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:12011155, PMID:25516642, PMID:30836443]",y,y +GARD:0016946,Orphanet,103918,ORPHA:103918,12,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:12011155, PMID:25516642, PMID:30836443]",y,y +GARD:0016946,Orphanet,103918,ORPHA:103918,12,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:12011155, PMID:25516642, PMID:30836443]",y,y +GARD:0016946,Orphanet,103918,ORPHA:103918,12,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:12011155, PMID:25516642, PMID:30836443]",y,y +GARD:0016946,Orphanet,103918,ORPHA:103918,12,HP:0004395,Malnutrition,Occasional (29-5%),TAS,,,,"[PMID:12011155, PMID:25516642, PMID:30836443]",y,y +GARD:0016946,Orphanet,103918,ORPHA:103918,12,HP:0005213,Pancreatic calcification,Very frequent (99-80%),TAS,,,,"[PMID:12011155, PMID:25516642, PMID:30836443]",y,y +GARD:0016946,Orphanet,103918,ORPHA:103918,12,HP:0005236,Chronic calcifying pancreatitis,Very frequent (99-80%),TAS,,,,"[PMID:12011155, PMID:25516642, PMID:30836443]",y,y +GARD:0016946,Orphanet,103918,ORPHA:103918,12,HP:0006725,Pancreatic adenocarcinoma,Occasional (29-5%),TAS,,,,"[PMID:12011155, PMID:25516642, PMID:30836443]",y,y +GARD:0016946,Orphanet,103918,ORPHA:103918,12,HP:0008205,Insulin-dependent but ketosis-resistant diabetes,Frequent (79-30%),TAS,,,,"[PMID:12011155, PMID:25516642, PMID:30836443]",y,y +GARD:0016946,Orphanet,103918,ORPHA:103918,12,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,"[PMID:12011155, PMID:25516642, PMID:30836443]",y,y +GARD:0016946,Orphanet,103918,ORPHA:103918,12,HP:0030992,Abnormal pancreatic duct morphology,Frequent (79-30%),TAS,,,,"[PMID:12011155, PMID:25516642, PMID:30836443]",y,y +GARD:0016946,Orphanet,103918,ORPHA:103918,12,HP:0410019,Epigastric pain,Very frequent (99-80%),TAS,,,,"[PMID:12011155, PMID:25516642, PMID:30836443]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0001607,Subglottic stenosis,Occasional (29-5%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0001742,Nasal congestion,Frequent (79-30%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0002779,Tracheomalacia,Occasional (29-5%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0002781,Upper airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0005321,Mandibulofacial dysostosis,Occasional (29-5%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0010442,Polydactyly,Very rare (<4-1%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0011109,Chronic sinusitis,Frequent (79-30%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0030215,Inappropriate crying,Occasional (29-5%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0030842,Choking episodes,Occasional (29-5%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016951,Orphanet,137914,ORPHA:137914,16,HP:0031416,Abnormal nasal mucus secretion,Frequent (79-30%),TAS,,,,"[PMID:26106591, PMID:29280877, PMID:29939546]",y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0000053,Macroorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0000653,Sparse eyelashes,Occasional (29-5%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0004411,Deviated nasal septum,Occasional (29-5%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0009928,Thick nasal alae,Occasional (29-5%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0011803,Bifid nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0016952,Orphanet,139474,ORPHA:139474,16,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0001765,Hammertoe,Occasional (29-5%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0002495,Impaired vibratory sensation,Frequent (79-30%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0003392,First dorsal interossei muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0003393,Thenar muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0003426,First dorsal interossei muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0003427,Thenar muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0003435,Cold-induced hand cramps,Frequent (79-30%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0003484,Upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0007178,Motor polyneuropathy,Frequent (79-30%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016955,Orphanet,139536,ORPHA:139536,16,HP:0040131,Abnormal motor nerve conduction velocity,Very rare (<4-1%),TAS,,,,"[PMID:15358725, PMID:16427281, PMID:18790819, PMID:22703882, PMID:8541851]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0001886,Foot osteomyelitis,Occasional (29-5%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0002143,Abnormality of the spinal cord,Frequent (79-30%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0002169,Clonus,Frequent (79-30%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0003390,Sensory axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0003409,Distal sensory impairment of all modalities,Very frequent (99-80%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0003431,Decreased motor nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0006121,Acral ulceration,Occasional (29-5%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0007328,Impaired pain sensation,Very frequent (99-80%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0012332,Abnormal autonomic nervous system physiology,Very frequent (99-80%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016959,Orphanet,139578,ORPHA:139578,18,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,"[PMID:16333315, PMID:218673, PMID:7922454]",y,y +GARD:0016963,Orphanet,140908,ORPHA:140908,9,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016963,Orphanet,140908,ORPHA:140908,9,HP:0001817,Absent fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016963,Orphanet,140908,ORPHA:140908,9,HP:0001831,Short toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016963,Orphanet,140908,ORPHA:140908,9,HP:0001857,Short distal phalanx of toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016963,Orphanet,140908,ORPHA:140908,9,HP:0005048,Synostosis of carpal bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0016963,Orphanet,140908,ORPHA:140908,9,HP:0005831,Type B brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016963,Orphanet,140908,ORPHA:140908,9,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016963,Orphanet,140908,ORPHA:140908,9,HP:0009773,Symphalangism affecting the phalanges of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0016963,Orphanet,140908,ORPHA:140908,9,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016964,Orphanet,140941,ORPHA:140941,7,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:14762184, PMID:17726072, PMID:21396577]",y,y +GARD:0016964,Orphanet,140941,ORPHA:140941,7,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:14762184, PMID:17726072, PMID:21396577]",y,y +GARD:0016964,Orphanet,140941,ORPHA:140941,7,HP:0000855,Insulin resistance,Frequent (79-30%),TAS,,,,"[PMID:14762184, PMID:17726072, PMID:21396577]",y,y +GARD:0016964,Orphanet,140941,ORPHA:140941,7,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:14762184, PMID:17726072, PMID:21396577]",y,y +GARD:0016964,Orphanet,140941,ORPHA:140941,7,HP:0001956,Truncal obesity,Frequent (79-30%),TAS,,,,"[PMID:14762184, PMID:17726072, PMID:21396577]",y,y +GARD:0016964,Orphanet,140941,ORPHA:140941,7,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:14762184, PMID:17726072, PMID:21396577]",y,y +GARD:0016964,Orphanet,140941,ORPHA:140941,7,HP:0030353,Decreased serum insulin-like growth factor 1,Very frequent (99-80%),TAS,,,,"[PMID:14762184, PMID:17726072, PMID:21396577]",y,y +GARD:0016967,Orphanet,140966,ORPHA:140966,2,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,[PMID:18347294],y,y +GARD:0016967,Orphanet,140966,ORPHA:140966,2,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,[PMID:18347294],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0000171,Microglossia,Frequent (79-30%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0002781,Upper airway obstruction,Frequent (79-30%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0005483,Abnormal epiglottis morphology,Occasional (29-5%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0006265,Aplasia/Hypoplasia of fingers,Frequent (79-30%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0010566,Hamartoma,Occasional (29-5%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0011470,Nasogastric tube feeding in infancy,Very frequent (99-80%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0011471,Gastrostomy tube feeding in infancy,Frequent (79-30%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,[PMID:12697349],y,y +GARD:0016972,Orphanet,141152,ORPHA:141152,16,HP:0012478,Temporomandibular joint ankylosis,Occasional (29-5%),TAS,,,,[PMID:12697349],y,y +GARD:0016976,Orphanet,141291,ORPHA:141291,12,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,"[PMID:20796225, PMID:23139511, PMID:30970062]",y,y +GARD:0016976,Orphanet,141291,ORPHA:141291,12,HP:0000419,Abnormality of the nasal septum,Occasional (29-5%),TAS,,,,"[PMID:20796225, PMID:23139511, PMID:30970062]",y,y +GARD:0016976,Orphanet,141291,ORPHA:141291,12,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:20796225, PMID:23139511, PMID:30970062]",y,y +GARD:0016976,Orphanet,141291,ORPHA:141291,12,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,"[PMID:20796225, PMID:23139511, PMID:30970062]",y,y +GARD:0016976,Orphanet,141291,ORPHA:141291,12,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20796225, PMID:23139511, PMID:30970062]",y,y +GARD:0016976,Orphanet,141291,ORPHA:141291,12,HP:0002793,Abnormal pattern of respiration,Frequent (79-30%),TAS,,,,"[PMID:20796225, PMID:23139511, PMID:30970062]",y,y +GARD:0016976,Orphanet,141291,ORPHA:141291,12,HP:0005105,Abnormal nasal morphology,Frequent (79-30%),TAS,,,,"[PMID:20796225, PMID:23139511, PMID:30970062]",y,y +GARD:0016976,Orphanet,141291,ORPHA:141291,12,HP:0005216,Impaired mastication,Frequent (79-30%),TAS,,,,"[PMID:20796225, PMID:23139511, PMID:30970062]",y,y +GARD:0016976,Orphanet,141291,ORPHA:141291,12,HP:0005324,Disturbance of facial expression,Frequent (79-30%),TAS,,,,"[PMID:20796225, PMID:23139511, PMID:30970062]",y,y +GARD:0016976,Orphanet,141291,ORPHA:141291,12,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:20796225, PMID:23139511, PMID:30970062]",y,y +GARD:0016976,Orphanet,141291,ORPHA:141291,12,HP:0100267,Lip pit,Very frequent (99-80%),TAS,,,,"[PMID:20796225, PMID:23139511, PMID:30970062]",y,y +GARD:0016976,Orphanet,141291,ORPHA:141291,12,HP:0410011,Abnormality of masticatory muscle,Frequent (79-30%),TAS,,,,"[PMID:20796225, PMID:23139511, PMID:30970062]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0000787,Nephrolithiasis,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0000897,Rachitic rosary,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0002148,Hypophosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0002150,Hypercalciuria,Very frequent (99-80%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0002749,Osteomalacia,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0002756,Pathologic fracture,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0002979,Bowing of the legs,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0003109,Hyperphosphaturia,Very frequent (99-80%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0004912,Hypophosphatemic rickets,Very frequent (99-80%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0010639,Elevated alkaline phosphatase of bone origin,Very frequent (99-80%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0012408,Medullary nephrocalcinosis,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0031415,High serum calcitriol,Very frequent (99-80%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0031425,Increased circulating beta-C-terminal telopeptide level,Very frequent (99-80%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0031428,Increased circulating osteocalcin level,Very frequent (99-80%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016977,Orphanet,157215,ORPHA:157215,21,HP:0031817,Decreased circulating parathyroid hormone level,Very frequent (99-80%),TAS,,,,"[PMID:23108197, PMID:30109410, PMID:30454743]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0002573,Hematochezia,Very frequent (99-80%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0002576,Intussusception,Occasional (29-5%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0002890,Thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0003003,Colon cancer,Frequent (79-30%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0005227,Adenomatous colonic polyposis,Frequent (79-30%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0005505,Refractory anemia,Frequent (79-30%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0006771,Duodenal adenocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0007378,Neoplasm of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0012114,Endometrial carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0012125,Prostate cancer,Very rare (<4-1%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0012183,Hyperplastic colonic polyposis,Very frequent (99-80%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0012198,Juvenile colonic polyposis,Frequent (79-30%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0040276,Adenocarcinoma of the colon,Occasional (29-5%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0100245,Desmoid tumors,Very rare (<4-1%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0100743,Neoplasm of the rectum,Occasional (29-5%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0100896,Rectal polyposis,Frequent (79-30%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016981,Orphanet,157794,ORPHA:157794,18,HP:0200063,Colorectal polyposis,Frequent (79-30%),TAS,,,,"[PMID:10092300, PMID:16525031, PMID:26600934, PMID:27984123, PMID:28242209, PMID:8644741]",y,y +GARD:0016982,Orphanet,157798,ORPHA:157798,14,HP:0002861,Melanoma,Very rare (<4-1%),TAS,,,,"[PMID:1645228, PMID:24512911, PMID:27081527, PMID:7463029]",y,y +GARD:0016982,Orphanet,157798,ORPHA:157798,14,HP:0002862,Bladder carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:1645228, PMID:24512911, PMID:27081527, PMID:7463029]",y,y +GARD:0016982,Orphanet,157798,ORPHA:157798,14,HP:0003002,Breast carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:1645228, PMID:24512911, PMID:27081527, PMID:7463029]",y,y +GARD:0016982,Orphanet,157798,ORPHA:157798,14,HP:0005227,Adenomatous colonic polyposis,Frequent (79-30%),TAS,,,,"[PMID:1645228, PMID:24512911, PMID:27081527, PMID:7463029]",y,y +GARD:0016982,Orphanet,157798,ORPHA:157798,14,HP:0006725,Pancreatic adenocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:1645228, PMID:24512911, PMID:27081527, PMID:7463029]",y,y +GARD:0016982,Orphanet,157798,ORPHA:157798,14,HP:0012125,Prostate cancer,Very rare (<4-1%),TAS,,,,"[PMID:1645228, PMID:24512911, PMID:27081527, PMID:7463029]",y,y +GARD:0016982,Orphanet,157798,ORPHA:157798,14,HP:0012189,Hodgkin lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:1645228, PMID:24512911, PMID:27081527, PMID:7463029]",y,y +GARD:0016982,Orphanet,157798,ORPHA:157798,14,HP:0100008,Schwannoma,Very rare (<4-1%),TAS,,,,"[PMID:1645228, PMID:24512911, PMID:27081527, PMID:7463029]",y,y +GARD:0016982,Orphanet,157798,ORPHA:157798,14,HP:0100574,Biliary tract neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:1645228, PMID:24512911, PMID:27081527, PMID:7463029]",y,y +GARD:0016982,Orphanet,157798,ORPHA:157798,14,HP:0100615,Ovarian neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:1645228, PMID:24512911, PMID:27081527, PMID:7463029]",y,y +GARD:0016982,Orphanet,157798,ORPHA:157798,14,HP:0100728,Germ cell neoplasia,Very rare (<4-1%),TAS,,,,"[PMID:1645228, PMID:24512911, PMID:27081527, PMID:7463029]",y,y +GARD:0016982,Orphanet,157798,ORPHA:157798,14,HP:0100808,Gastric diverticulum,Frequent (79-30%),TAS,,,,"[PMID:1645228, PMID:24512911, PMID:27081527, PMID:7463029]",y,y +GARD:0016982,Orphanet,157798,ORPHA:157798,14,HP:0100834,Neoplasm of the large intestine,Occasional (29-5%),TAS,,,,"[PMID:1645228, PMID:24512911, PMID:27081527, PMID:7463029]",y,y +GARD:0016982,Orphanet,157798,ORPHA:157798,14,HP:0200063,Colorectal polyposis,Very frequent (99-80%),TAS,,,,"[PMID:1645228, PMID:24512911, PMID:27081527, PMID:7463029]",y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0000298,Mask-like facies,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0000514,Slow saccadic eye movements,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0000570,Abnormal saccadic eye movements,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0000617,Abnormality of ocular smooth pursuit,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0000711,Restlessness,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0000716,Depression,Frequent (79-30%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0000746,Delusions,Frequent (79-30%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002067,Bradykinesia,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002072,Chorea,Very frequent (99-80%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002134,Abnormality of the basal ganglia,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002171,Gliosis,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002311,Incoordination,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002375,Hypokinesia,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002457,Abnormal head movements,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0002533,Abnormal posturing,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0003043,Abnormal shoulder morphology,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0006801,Hyperactive deep tendon reflexes,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0006961,Jerky head movements,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0008003,Jerky ocular pursuit movements,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0011446,Abnormality of higher mental function,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0040201,Simultanapraxia,Occasional (29-5%),TAS,,,,[PMID:8178825],y,y +GARD:0016985,Orphanet,157941,ORPHA:157941,44,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,[PMID:8178825],y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0002300,Mutism,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0002340,Caudate atrophy,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0002361,Psychomotor deterioration,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0002457,Abnormal head movements,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0002607,Bowel incontinence,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0005327,Loss of facial expression,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0007076,Extrapyramidal muscular rigidity,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0007308,Extrapyramidal dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016986,Orphanet,157946,ORPHA:157946,22,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:10677304, PMID:27605280]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0002333,Motor deterioration,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0003700,Generalized amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0006480,Premature loss of teeth,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0007373,Motor neuron atrophy,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0007481,Hyperpigmented nevi,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0008202,Reduced circulating prolactin concentration,Occasional (29-5%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0008245,Pituitary hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0009487,Ulnar deviation of the hand,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0010627,Anterior pituitary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0011735,Adrenocorticotropin deficient adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0030353,Decreased serum insulin-like growth factor 1,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0031074,Abnormal response to ACTH stimulation test,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0040171,Decreased serum testosterone concentration,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016987,Orphanet,157954,ORPHA:157954,28,HP:0100578,Lipoatrophy,Frequent (79-30%),TAS,,,,"[PMID:18439547, PMID:20231366]",y,y +GARD:0016989,Orphanet,158025,ORPHA:158025,6,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:3401026, PMID:7944513]",y,y +GARD:0016989,Orphanet,158025,ORPHA:158025,6,HP:0002716,Lymphadenopathy,Excluded (0%),TAS,,,,"[PMID:3401026, PMID:7944513]",y,y +GARD:0016989,Orphanet,158025,ORPHA:158025,6,HP:0025475,Erythematous macule,Very frequent (99-80%),TAS,,,,"[PMID:3401026, PMID:7944513]",y,y +GARD:0016989,Orphanet,158025,ORPHA:158025,6,HP:0030350,Erythematous papule,Very frequent (99-80%),TAS,,,,"[PMID:3401026, PMID:7944513]",y,y +GARD:0016989,Orphanet,158025,ORPHA:158025,6,HP:0031871,Abnormal Langerhans cell morphology,Excluded (0%),TAS,,,,"[PMID:3401026, PMID:7944513]",y,y +GARD:0016989,Orphanet,158025,ORPHA:158025,6,HP:0040138,Mucinous histiocytosis,Very frequent (99-80%),TAS,,,,"[PMID:3401026, PMID:7944513]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0000464,Abnormality of the neck,Occasional (29-5%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0000478,Abnormality of the eye,Excluded (0%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0000972,Palmoplantar hyperkeratosis,Excluded (0%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0001036,Parakeratosis,Frequent (79-30%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0002815,Abnormality of the knee,Occasional (29-5%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0003341,Lamina lucida cleavage,Frequent (79-30%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0005585,Spotty hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0007513,Generalized hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0007585,Skin fragility with non-scarring blistering,Frequent (79-30%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0007599,Generalized reticulate brown pigmentation,Occasional (29-5%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0008404,Nail dystrophy,Excluded (0%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0012221,Pretibial blistering,Occasional (29-5%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0031045,Acral blistering,Frequent (79-30%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0031180,Erythema migrans,Frequent (79-30%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0200037,Skin vesicle,Frequent (79-30%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016990,Orphanet,158681,ORPHA:158681,19,HP:0200097,Oral mucosal blisters,Excluded (0%),TAS,,,,"[PMID:12925204, PMID:27730678, PMID:31965605]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0000070,Ureterocele,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0000075,Renal duplication,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0000079,Abnormality of the urinary system,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0000096,Glomerular sclerosis,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0000795,Abnormality of the urethra,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0001030,Fragile skin,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0001056,Milia,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0001057,Aplasia cutis congenita,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0001075,Atrophic scars,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0003341,Lamina lucida cleavage,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0003560,Muscular dystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0004399,Congenital pyloric atresia,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0004552,Scarring alopecia of scalp,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0007385,Aplasia cutis congenita of scalp,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0007585,Skin fragility with non-scarring blistering,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0007589,Aplasia cutis congenita on trunk or limbs,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0008404,Nail dystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0010477,Aplasia of the bladder,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0200041,Skin erosion,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016991,Orphanet,158684,ORPHA:158684,29,HP:0200097,Oral mucosal blisters,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:23289980, PMID:25530118, PMID:31513275]",y,y +GARD:0016992,Orphanet,163596,ORPHA:163596,12,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016992,Orphanet,163596,ORPHA:163596,12,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016992,Orphanet,163596,ORPHA:163596,12,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0016992,Orphanet,163596,ORPHA:163596,12,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0016992,Orphanet,163596,ORPHA:163596,12,HP:0001635,Congestive heart failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016992,Orphanet,163596,ORPHA:163596,12,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0016992,Orphanet,163596,ORPHA:163596,12,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016992,Orphanet,163596,ORPHA:163596,12,HP:0001789,Hydrops fetalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016992,Orphanet,163596,ORPHA:163596,12,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016992,Orphanet,163596,ORPHA:163596,12,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0016992,Orphanet,163596,ORPHA:163596,12,HP:0011902,Abnormal hemoglobin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016992,Orphanet,163596,ORPHA:163596,12,HP:0100602,Preeclampsia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000218,High palate,Occasional (29-5%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000260,Wide anterior fontanel,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000637,Long palpebral fissure,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0001238,Slender finger,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0002673,Coxa valga,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0002693,Abnormality of the skull base,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0002879,Anisospondyly,Occasional (29-5%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0002942,Thoracic kyphosis,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0003071,Flattened epiphysis,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0003180,Flat acetabular roof,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0003300,Ovoid vertebral bodies,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0003366,Abnormal femoral neck/head morphology,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0006454,Delayed patellar ossification,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0007894,Hypopigmentation of the fundus,Frequent (79-30%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0008783,Wide proximal femoral metaphysis,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0009811,Abnormality of the elbow,Occasional (29-5%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0010471,Oligosacchariduria,Occasional (29-5%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0011326,Anterior plagiocephaly,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0011329,Abnormality of cranial sutures,Frequent (79-30%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0011849,Abnormal bone ossification,Very frequent (99-80%),TAS,,,,[PMID:9557884],y,y +GARD:0016993,Orphanet,163649,ORPHA:163649,41,HP:0100558,Hemiatrophy of upper limb,Frequent (79-30%),TAS,,,,[PMID:9557884],y,y +GARD:0016995,Orphanet,163665,ORPHA:163665,11,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,[PMID:3612708],y,y +GARD:0016995,Orphanet,163665,ORPHA:163665,11,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,[PMID:3612708],y,y +GARD:0016995,Orphanet,163665,ORPHA:163665,11,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,[PMID:3612708],y,y +GARD:0016995,Orphanet,163665,ORPHA:163665,11,HP:0002815,Abnormality of the knee,Frequent (79-30%),TAS,,,,[PMID:3612708],y,y +GARD:0016995,Orphanet,163665,ORPHA:163665,11,HP:0002867,Abnormal ilium morphology,Frequent (79-30%),TAS,,,,[PMID:3612708],y,y +GARD:0016995,Orphanet,163665,ORPHA:163665,11,HP:0003028,Abnormality of the ankles,Frequent (79-30%),TAS,,,,[PMID:3612708],y,y +GARD:0016995,Orphanet,163665,ORPHA:163665,11,HP:0003468,Abnormal vertebral morphology,Frequent (79-30%),TAS,,,,[PMID:3612708],y,y +GARD:0016995,Orphanet,163665,ORPHA:163665,11,HP:0003521,Disproportionate short-trunk short stature,Frequent (79-30%),TAS,,,,[PMID:3612708],y,y +GARD:0016995,Orphanet,163665,ORPHA:163665,11,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:3612708],y,y +GARD:0016995,Orphanet,163665,ORPHA:163665,11,HP:0005193,Restricted large joint movement,Frequent (79-30%),TAS,,,,[PMID:3612708],y,y +GARD:0016995,Orphanet,163665,ORPHA:163665,11,HP:0010665,Bilateral coxa valga,Frequent (79-30%),TAS,,,,[PMID:3612708],y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0000742,Self-mutilation,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0000744,Low frustration tolerance,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0000817,Poor eye contact,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0002269,Abnormality of neuronal migration,Very frequent (99-80%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0004879,Intermittent hyperventilation,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0006855,Cerebellar vermis atrophy,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0006970,Periventricular leukomalacia,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0007064,Progressive language deterioration,Frequent (79-30%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0007334,Bilateral tonic-clonic seizure with focal onset,Frequent (79-30%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0007359,Focal-onset seizure,Very frequent (99-80%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0010845,EEG with generalized slow activity,Frequent (79-30%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0010863,Receptive language delay,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0011182,Interictal epileptiform activity,Frequent (79-30%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0011193,EEG with focal spikes,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0011198,EEG with generalized epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0012001,EEG with generalized polyspikes,Frequent (79-30%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0012166,Skin-picking,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0012171,Stereotypical hand wringing,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0012757,Abnormal neuron morphology,Very frequent (99-80%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0025160,Abnormal temper tantrums,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0031936,Delayed ability to walk,Very frequent (99-80%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0100021,Cerebral palsy,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016997,Orphanet,163681,ORPHA:163681,49,HP:0100258,Preaxial polydactyly,Occasional (29-5%),TAS,,,,"[PMID:24916270, PMID:27439707]",y,y +GARD:0016998,Orphanet,163690,ORPHA:163690,14,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016998,Orphanet,163690,ORPHA:163690,14,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016998,Orphanet,163690,ORPHA:163690,14,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0016998,Orphanet,163690,ORPHA:163690,14,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016998,Orphanet,163690,ORPHA:163690,14,HP:0000787,Nephrolithiasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016998,Orphanet,163690,ORPHA:163690,14,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016998,Orphanet,163690,ORPHA:163690,14,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016998,Orphanet,163690,ORPHA:163690,14,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016998,Orphanet,163690,ORPHA:163690,14,HP:0001558,Decreased fetal movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016998,Orphanet,163690,ORPHA:163690,14,HP:0001611,Nasal speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016998,Orphanet,163690,ORPHA:163690,14,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0016998,Orphanet,163690,ORPHA:163690,14,HP:0002591,Polyphagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016998,Orphanet,163690,ORPHA:163690,14,HP:0003131,Cystinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016998,Orphanet,163690,ORPHA:163690,14,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0000527,Long eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0000787,Nephrolithiasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0001611,Nasal speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0002901,Hypocalcemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0003131,Cystinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0016999,Orphanet,163693,ORPHA:163693,19,HP:0200125,Mitochondrial respiratory chain defects,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0001611,Nasal speech,Occasional (29-5%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0002546,Incomprehensible speech,Occasional (29-5%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0007334,Bilateral tonic-clonic seizure with focal onset,Frequent (79-30%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0010300,Abnormally low-pitched voice,Occasional (29-5%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0011098,Speech apraxia,Very frequent (99-80%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0011196,EEG with focal sharp waves,Frequent (79-30%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0011198,EEG with generalized epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0031434,Abnormal speech prosody,Occasional (29-5%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017002,Orphanet,163721,ORPHA:163721,18,HP:0031491,Continuous spike and waves during slow sleep,Frequent (79-30%),TAS,,,,"[PMID:16497722, PMID:18248446, PMID:27683935, PMID:7574460]",y,y +GARD:0017003,Orphanet,163727,ORPHA:163727,8,HP:0000666,Horizontal nystagmus,Frequent (79-30%),TAS,,,,[PMID:10072049],y,y +GARD:0017003,Orphanet,163727,ORPHA:163727,8,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:10072049],y,y +GARD:0017003,Orphanet,163727,ORPHA:163727,8,HP:0002268,Paroxysmal dystonia,Frequent (79-30%),TAS,,,,[PMID:10072049],y,y +GARD:0017003,Orphanet,163727,ORPHA:163727,8,HP:0002356,Writer's cramp,Frequent (79-30%),TAS,,,,[PMID:10072049],y,y +GARD:0017003,Orphanet,163727,ORPHA:163727,8,HP:0007104,Prolonged somatosensory evoked potentials,Frequent (79-30%),TAS,,,,[PMID:10072049],y,y +GARD:0017003,Orphanet,163727,ORPHA:163727,8,HP:0007332,Focal hemifacial clonic seizure,Frequent (79-30%),TAS,,,,[PMID:10072049],y,y +GARD:0017003,Orphanet,163727,ORPHA:163727,8,HP:0011295,EEG with parietal sharp waves,Frequent (79-30%),TAS,,,,[PMID:10072049],y,y +GARD:0017003,Orphanet,163727,ORPHA:163727,8,HP:0012012,EEG with parietal focal spike waves,Frequent (79-30%),TAS,,,,[PMID:10072049],y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0000534,Abnormal eyebrow morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0000633,Decreased lacrimation,Frequent (79-30%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0001100,Heterochromia iridis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0002216,Premature graying of hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0002251,Aganglionic megacolon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0002595,Ileus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0004388,Microcolon,Frequent (79-30%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017004,Orphanet,163746,ORPHA:163746,31,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000475,Broad neck,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0001718,Mitral stenosis,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0001719,Double outlet right ventricle,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0001776,Bilateral talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0002002,Deep philtrum,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0002194,Delayed gross motor development,Very frequent (99-80%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0002465,Poor speech,Very frequent (99-80%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0003265,Neonatal hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0004467,Preauricular pit,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0004969,Peripheral pulmonary artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0005345,Abnormal vena cava morphology,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0007103,Hypointensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0007509,Patchy hypo- and hyperpigmentation,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0008404,Nail dystrophy,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0009765,Low hanging columella,Very frequent (99-80%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0010529,Echolalia,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0010721,Abnormal hair whorl,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0011913,Lumbar hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0012110,Hypoplasia of the pons,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0012450,Chronic constipation,Frequent (79-30%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0030311,Lower extremity joint dislocation,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0100760,Clubbing of toes,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0100838,Recurrent cutaneous abscess formation,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017005,Orphanet,163956,ORPHA:163956,64,HP:0410018,Recurrent ear infections,Occasional (29-5%),TAS,,,,"[PMID:16909393, PMID:20412111, PMID:24053514, PMID:28611923]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0002245,Meckel diverticulum,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0002335,Agenesis of cerebellar vermis,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0002363,Abnormal brainstem morphology,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0002538,Abnormal cerebral cortex morphology,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0002876,Episodic tachypnea,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0005815,Supernumerary ribs,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0005949,Apneic episodes in infancy,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0007738,Uncontrolled eye movements,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0007965,Undetectable visual evoked potentials,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0009928,Thick nasal alae,Occasional (29-5%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017006,Orphanet,163961,ORPHA:163961,31,HP:0040288,Nasogastric tube feeding,Frequent (79-30%),TAS,,,,"[PMID:15887274, PMID:9832051]",y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0000883,Thin ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0002866,Hypoplastic iliac wing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0005871,Metaphyseal chondrodysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0006028,Metaphyseal cupping of metacarpals,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0008364,Abnormality of the calcaneus,Frequent (79-30%),TAS,,,,,y,y +GARD:0017007,Orphanet,163966,ORPHA:163966,24,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0000026,Male hypogonadism,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0000735,Impaired social interactions,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0000837,Increased circulating gonadotropin level,Frequent (79-30%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0004440,Coronal craniosynostosis,Occasional (29-5%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0005978,Type II diabetes mellitus,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0008187,Absence of secondary sex characteristics,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0012646,Retractile testis,Very frequent (99-80%),TAS,,,,[PMID:16053905],y,y +GARD:0017008,Orphanet,163976,ORPHA:163976,21,HP:0040171,Decreased serum testosterone concentration,Frequent (79-30%),TAS,,,,[PMID:16053905],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000331,Short chin,Frequent (79-30%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0001187,Hyperextensibility of the finger joints,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0001782,Bulbous tips of toes,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0001838,Rocker bottom foot,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0001863,Toe clinodactyly,Frequent (79-30%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0002682,Broad skull,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0002777,Tracheal stenosis,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0002904,Hyperbilirubinemia,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0005306,Capillary hemangioma,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0008386,Aplasia/Hypoplasia of the nails,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0009237,Short 5th finger,Frequent (79-30%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0010511,Long toe,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0011467,Absent gallbladder,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0011611,Interrupted aortic arch,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0011833,Overhanging nasal tip,Frequent (79-30%),TAS,,,,[PMID:17853486],y,y +GARD:0017009,Orphanet,163979,ORPHA:163979,48,HP:0030148,Heart murmur,Occasional (29-5%),TAS,,,,[PMID:17853486],y,y +GARD:0017010,Orphanet,163985,ORPHA:163985,9,HP:0000243,Trigonocephaly,Occasional (29-5%),TAS,,,,"[PMID:15215304, PMID:21633362, PMID:23153204]",y,y +GARD:0017010,Orphanet,163985,ORPHA:163985,9,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:15215304, PMID:21633362, PMID:23153204]",y,y +GARD:0017010,Orphanet,163985,ORPHA:163985,9,HP:0002267,Exaggerated startle response,Frequent (79-30%),TAS,,,,"[PMID:15215304, PMID:21633362, PMID:23153204]",y,y +GARD:0017010,Orphanet,163985,ORPHA:163985,9,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:15215304, PMID:21633362, PMID:23153204]",y,y +GARD:0017010,Orphanet,163985,ORPHA:163985,9,HP:0002384,Focal impaired awareness seizure,Frequent (79-30%),TAS,,,,"[PMID:15215304, PMID:21633362, PMID:23153204]",y,y +GARD:0017010,Orphanet,163985,ORPHA:163985,9,HP:0007333,Hypoplasia of the frontal lobes,Frequent (79-30%),TAS,,,,"[PMID:15215304, PMID:21633362, PMID:23153204]",y,y +GARD:0017010,Orphanet,163985,ORPHA:163985,9,HP:0010818,Generalized tonic seizure,Frequent (79-30%),TAS,,,,"[PMID:15215304, PMID:21633362, PMID:23153204]",y,y +GARD:0017010,Orphanet,163985,ORPHA:163985,9,HP:0012018,EEG with temporal focal spikes,Frequent (79-30%),TAS,,,,"[PMID:15215304, PMID:21633362, PMID:23153204]",y,y +GARD:0017010,Orphanet,163985,ORPHA:163985,9,HP:0200134,Epileptic encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:15215304, PMID:21633362, PMID:23153204]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0001384,Abnormal hip joint morphology,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0002654,Multiple epiphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0002812,Coxa vara,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0002943,Thoracic scoliosis,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0002945,Intervertebral space narrowing,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0003170,Abnormal acetabulum morphology,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0003365,Arthralgia of the hip,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0003370,Flat capital femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0003419,Low back pain,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0003888,Flattened humeral heads,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0004586,Biconcave vertebral bodies,Very frequent (99-80%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0004592,Thoracic platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0005054,Metaphyseal spurs,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0005787,Lumbar platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0005923,Abnormal hand metaphysis morphology,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0006019,Reduced proximal interphalangeal joint space,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0006508,Abnormality of tibial epiphyses,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0008812,Flattened femoral head,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0011911,Abnormality of metacarpophalangeal joint,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0030329,Retinal thinning,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0030672,Asteroid hyalosis,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0030839,Knee pain,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0031174,Double-layered patella,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0031955,Antalgic gait,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0100712,Abnormal lumbar spine morphology,Occasional (29-5%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017012,Orphanet,166011,ORPHA:166011,39,HP:0100864,Short femoral neck,Frequent (79-30%),TAS,,,,"[PMID:30740902, PMID:32071555]",y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0000766,Abnormal sternum morphology,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0002656,Epiphyseal dysplasia,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0002663,Delayed epiphyseal ossification,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0003038,Fibular hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0003071,Flattened epiphysis,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0003083,Dislocated radial head,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0006380,Knee flexion contracture,Frequent (79-30%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0006471,Fixed elbow flexion,Frequent (79-30%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0010585,Small epiphyses,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0100168,Fragmented epiphyses,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017013,Orphanet,166016,ORPHA:166016,20,HP:0410005,Cleft hard palate,Very frequent (99-80%),TAS,,,,[PMID:8723087],y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0000207,Triangular mouth,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0002419,Molar tooth sign on MRI,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0002654,Multiple epiphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0002663,Delayed epiphyseal ossification,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0003037,Enlarged joints,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0003468,Abnormal vertebral morphology,Very rare (<4-1%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0012725,Cutaneous syndactyly,Occasional (29-5%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0030084,Clinodactyly,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017014,Orphanet,166024,ORPHA:166024,22,HP:0031092,Spindle-shaped finger,Very frequent (99-80%),TAS,,,,"[PMID:22587682, PMID:23431744]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000510,Rod-cone dystrophy,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000512,Abnormal electroretinogram,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000546,Retinal degeneration,Very frequent (99-80%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000561,Absent eyelashes,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000662,Nyctalopia,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000818,Abnormality of the endocrine system,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0001792,Small nail,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0002223,Absent eyebrow,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0005345,Abnormal vena cava morphology,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0005871,Metaphyseal chondrodysplasia,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0007099,Chiari type I malformation,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0010049,Short metacarpal,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0010761,Broad columella,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0030148,Heart murmur,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017017,Orphanet,166035,ORPHA:166035,46,HP:0030455,Abnormality of pattern visual evoked potentials,Occasional (29-5%),TAS,,,,"[PMID:10420199, PMID:28285769, PMID:7252997]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0000077,Abnormality of the kidney,Very rare (<4-1%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0000620,Dacryocystitis,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0000818,Abnormality of the endocrine system,Very rare (<4-1%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0001159,Syndactyly,Very rare (<4-1%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0001474,Sclerotic scapulae,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0002823,Abnormality of femur morphology,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0002960,Autoimmunity,Very rare (<4-1%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0004240,Sclerotic foci within carpal bones,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0004289,Sclerotic foci in hand bones,Frequent (79-30%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0007417,Discoid lupus rash,Very rare (<4-1%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0009106,Abnormal pelvis bone ossification,Frequent (79-30%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0010562,Keloids,Very rare (<4-1%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0011314,Abnormality of long bone morphology,Frequent (79-30%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0011849,Abnormal bone ossification,Very frequent (99-80%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0030838,Hip pain,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0030840,Ankle pain,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0030955,Alcoholism,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0031051,Tarsal sclerosis,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0032148,Episodic pain,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0040068,Abnormality of limb bone,Very frequent (99-80%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0040163,Abnormal pelvis bone morphology,Frequent (79-30%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0100324,Scleroderma,Very rare (<4-1%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0100569,Abnormally ossified vertebrae,Occasional (29-5%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0100774,Hyperostosis,Frequent (79-30%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017027,Orphanet,166119,ORPHA:166119,33,HP:0100925,Sclerosis of foot bone,Frequent (79-30%),TAS,,,,"[PMID:23910432, PMID:26644888, PMID:31129707, PMID:31617484]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0001171,Split hand,Occasional (29-5%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0001302,Pachygyria,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0002104,Apnea,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0002171,Gliosis,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0003204,Intracellular accumulation of autofluorescent lipopigment storage material,Very frequent (99-80%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0003657,Granular osmiophilic deposits (GROD) in cells,Very frequent (99-80%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0006872,Cerebral hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0007162,Diffuse demyelination of the cerebral white matter,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0007190,Neuronal loss in the cerebral cortex,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0008772,Aplasia/Hypoplasia of the external ear,Occasional (29-5%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0010536,Central sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0010851,EEG with burst suppression,Occasional (29-5%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0025435,Increased circulating lactate dehydrogenase concentration,Occasional (29-5%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0032794,Myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017031,Orphanet,168486,ORPHA:168486,30,HP:0100707,Abnormal astrocyte morphology,Frequent (79-30%),TAS,,,,"[PMID:16670177, PMID:26059544, PMID:30470609]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000546,Retinal degeneration,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000649,Abnormality of visual evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000744,Low frustration tolerance,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0002333,Motor deterioration,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0002371,Loss of speech,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0002463,Language impairment,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0003204,Intracellular accumulation of autofluorescent lipopigment storage material,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0003205,Curvilinear intracellular accumulation of autofluorescent lipopigment storage material,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0003208,Fingerprint intracellular accumulation of autofluorescent lipopigment storage material,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0003657,Granular osmiophilic deposits (GROD) in cells,Very frequent (99-80%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0003698,Difficulty standing,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0007371,Corpus callosum atrophy,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0008770,Obsessive-compulsive trait,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0010841,Multifocal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0010845,EEG with generalized slow activity,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0010850,EEG with spike-wave complexes,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0010852,EEG with photoparoxysmal response,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0011147,Typical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0011167,Focal tonic seizure,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0011194,EEG with series of focal spikes,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0011209,EEG with generalized slow activity grade 4,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0030462,Abnormal amplitude of flash visual evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0030891,Periventricular white matter hyperintensities,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0032794,Myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017032,Orphanet,168491,ORPHA:168491,56,HP:0040148,Cortical myoclonus,Frequent (79-30%),TAS,,,,"[PMID:27083890, PMID:28542837, PMID:30119717, PMID:31489614, PMID:32298681]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0000033,"Ambiguous genitalia, male",Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0000037,Male pseudohermaphroditism,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0000127,Renal salt wasting,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0000142,Abnormal vagina morphology,Occasional (29-5%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0000151,Aplasia of the uterus,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0000835,Adrenal hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0000848,Increased circulating renin level,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0001197,Abnormality of prenatal development or birth,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0001941,Acidosis,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0001998,Neonatal hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0002153,Hyperkalemia,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0002902,Hyponatremia,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0003107,Abnormal circulating cholesterol concentration,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0003154,Increased circulating ACTH level,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0004319,Decreased circulating aldosterone level,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0007574,Generalized bronze hyperpigmentation,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0008073,Low maternal serum estriol,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0008163,Decreased circulating cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0008187,Absence of secondary sex characteristics,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0008207,Primary adrenal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0008232,Elevated circulating follicle stimulating hormone level,Frequent (79-30%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0008665,Clitoral hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0008730,"Female external genitalia in individual with 46,XY karyotype",Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0010789,Abnormality of the Leydig cells,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0011106,Hypovolemia,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0011749,Adrenocorticotropic hormone excess,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0011969,Elevated circulating luteinizing hormone level,Frequent (79-30%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0012244,Abnormal sex determination,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0012245,Sex reversal,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0012598,Abnormal urine potassium concentration,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0012605,Hypernatriuria,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0012854,Midshaft hypospadias,Occasional (29-5%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0030349,Decreased circulating androgen concentration,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0030369,Induced vaginal delivery,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017033,Orphanet,168558,ORPHA:168558,51,HP:0100779,Urogenital sinus anomaly,Very frequent (99-80%),TAS,,,,"[PMID:11502818, PMID:11972529, PMID:12136908, PMID:12161514, PMID:14172080, PMID:15180858, PMID:15507506, PMID:16044444, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:22909024, PMID:3706293, PMID:9207791]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0000013,Hypoplasia of the uterus,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0000026,Male hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0000055,Abnormality of female external genitalia,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0000133,Gonadal dysgenesis,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0000142,Abnormal vagina morphology,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0000150,Gonadoblastoma,Occasional (29-5%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0000789,Infertility,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0001271,Polyneuropathy,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0002460,Distal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0003130,Abnormal peripheral myelination,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0003134,Abnormality of peripheral nerve conduction,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0003376,Steppage gait,Occasional (29-5%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0003409,Distal sensory impairment of all modalities,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0003434,Sensory ataxic neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0007141,Sensorimotor neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0008214,Decreased serum estradiol,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0008715,Testicular dysgenesis,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0008723,"Gonadal dysgenesis with female appearance, male",Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0010464,Streak ovary,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017034,Orphanet,168563,ORPHA:168563,26,HP:0045010,Abnormality of peripheral nerves,Very frequent (99-80%),TAS,,,,"[PMID:10483790, PMID:11891836, PMID:17768021, PMID:7076870]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0000475,Broad neck,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0001258,Spastic paraplegia,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0001334,Communicating hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0002908,Conjugated hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0003575,Increased intracellular sodium,Frequent (79-30%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0004446,Stomatocytosis,Frequent (79-30%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0005525,Spontaneous hemolytic crises,Frequent (79-30%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0007229,Intracerebral periventricular calcifications,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0010306,Short thorax,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0010920,Zonular cataract,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0011972,Hypoglycorrhachia,Frequent (79-30%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0012430,Cerebral white matter hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0012695,Decreased thalamic volume,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017036,Orphanet,168577,ORPHA:168577,32,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,"[PMID:15071792, PMID:15180870, PMID:21791420, PMID:22492876, PMID:7174793]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0001004,Lymphedema,Frequent (79-30%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0001052,Nevus flammeus,Very frequent (99-80%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0001528,Hemihypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0001548,Overgrowth,Very frequent (99-80%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0002619,Varicose veins,Frequent (79-30%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0003005,Ganglioneuroma,Very rare (<4-1%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0004099,Macrodactyly,Frequent (79-30%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0005306,Capillary hemangioma,Obligate (100%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0012721,Venous malformation,Frequent (79-30%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0031487,Capillary malformation of the lip,Obligate (100%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0100553,Hemihypertrophy of lower limb,Frequent (79-30%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0100554,Hemihypertrophy of upper limb,Frequent (79-30%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0100555,Asymmetric growth,Frequent (79-30%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017044,Orphanet,168984,ORPHA:168984,20,HP:0100764,Lymphangioma,Very frequent (99-80%),TAS,,,,"[PMID:18798326, PMID:29446767]",y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0000320,Bird-like facies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0001888,Lymphopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0002718,Recurrent bacterial infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0004429,Recurrent viral infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0005403,T lymphocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017045,Orphanet,169079,ORPHA:169079,16,HP:0010976,B lymphocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0000389,Chronic otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0000705,Amelogenesis imperfecta,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0000970,Anhidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0001287,Meningitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0001878,Hemolytic anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0002090,Pneumonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0002718,Recurrent bacterial infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0002841,Recurrent fungal infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0004429,Recurrent viral infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0007676,Hypoplasia of the iris,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0011084,Hypocalcification of dental enamel,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0011274,Recurrent mycobacterial infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017048,Orphanet,169090,ORPHA:169090,23,HP:0100806,Sepsis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0000155,Oral ulcer,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0001019,Erythroderma,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0001973,Autoimmune thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0002783,Recurrent lower respiratory tract infections,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0002788,Recurrent upper respiratory tract infections,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0003212,Increased circulating IgE level,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0003237,Increased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0003261,Increased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0004429,Recurrent viral infections,Frequent (79-30%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0005401,Recurrent candida infections,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0005403,T lymphocytopenia,Frequent (79-30%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0005407,Decreased proportion of CD4-positive helper T cells,Frequent (79-30%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0005415,Decreased proportion of CD8-positive T cells,Frequent (79-30%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0010702,Increased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0025526,Psoriasiform lesion,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0031381,Decreased lymphocyte proliferation in response to mitogen,Frequent (79-30%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0040187,Neonatal sepsis,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0045080,Decreased proportion of CD3-positive T cells,Frequent (79-30%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017051,Orphanet,169154,ORPHA:169154,29,HP:0100827,Lymphocytosis,Occasional (29-5%),TAS,,,,"[PMID:25046553, PMID:27593400, PMID:29167666, PMID:31379863, PMID:9843216]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0000388,Otitis media,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0001019,Erythroderma,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0002722,Recurrent abscess formation,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0003460,Decreased circulating total IgA,Frequent (79-30%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0004315,Decreased circulating IgG level,Frequent (79-30%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0004385,Protracted diarrhea,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0005353,Recurrent herpes,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0005401,Recurrent candida infections,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0008866,Failure to thrive secondary to recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0009098,Chronic oral candidiasis,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0010702,Increased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0031381,Decreased lymphocyte proliferation in response to mitogen,Frequent (79-30%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017053,Orphanet,169160,ORPHA:169160,23,HP:0045080,Decreased proportion of CD3-positive T cells,Frequent (79-30%),TAS,,,,"[PMID:15546002, PMID:16672702, PMID:21883749, PMID:26235889]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0000132,Menorrhagia,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0001058,Poor wound healing,Frequent (79-30%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0001934,Persistent bleeding after trauma,Frequent (79-30%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0003121,Limb joint contracture,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0003125,Reduced factor VIII activity,Very frequent (99-80%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0003645,Prolonged partial thromboplastin time,Very frequent (99-80%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0004846,Prolonged bleeding after surgery,Frequent (79-30%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0005187,Progressive joint destruction,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0005261,Joint hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0008330,Reduced von Willebrand factor activity,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0012233,Intramuscular hematoma,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0012541,Cephalohematoma,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0012587,Macroscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0030137,Prolonged bleeding following circumcision,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0030140,Oral cavity bleeding,Frequent (79-30%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0100309,Subdural hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0100310,Epidural hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017059,Orphanet,169802,ORPHA:169802,27,HP:0100769,Synovitis,Occasional (29-5%),TAS,,,,"[PMID:12648975, PMID:20301578, PMID:23815950]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0000225,Gingival bleeding,Frequent (79-30%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0001386,Joint swelling,Occasional (29-5%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0001933,Subcutaneous hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0003040,Arthropathy,Occasional (29-5%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0003125,Reduced factor VIII activity,Very frequent (99-80%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0003273,Hip contracture,Very rare (<4-1%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0003645,Prolonged partial thromboplastin time,Very frequent (99-80%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0004846,Prolonged bleeding after surgery,Occasional (29-5%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0005261,Joint hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0006298,Prolonged bleeding after dental extraction,Occasional (29-5%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0007420,Spontaneous hematomas,Very rare (<4-1%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0011889,Bleeding with minor or no trauma,Frequent (79-30%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0012233,Intramuscular hematoma,Frequent (79-30%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0030746,Intraventricular hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0100309,Subdural hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0100310,Epidural hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0100769,Synovitis,Occasional (29-5%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017060,Orphanet,169805,ORPHA:169805,26,HP:0100773,Cartilage destruction,Occasional (29-5%),TAS,,,,"[PMID:20301578, PMID:23815950, PMID:30341523]",y,y +GARD:0017063,Orphanet,171607,ORPHA:171607,8,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:18463901],y,y +GARD:0017063,Orphanet,171607,ORPHA:171607,8,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,[PMID:18463901],y,y +GARD:0017063,Orphanet,171607,ORPHA:171607,8,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,[PMID:18463901],y,y +GARD:0017063,Orphanet,171607,ORPHA:171607,8,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,[PMID:18463901],y,y +GARD:0017063,Orphanet,171607,ORPHA:171607,8,HP:0002362,Shuffling gait,Frequent (79-30%),TAS,,,,[PMID:18463901],y,y +GARD:0017063,Orphanet,171607,ORPHA:171607,8,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:18463901],y,y +GARD:0017063,Orphanet,171607,ORPHA:171607,8,HP:0011448,Ankle clonus,Frequent (79-30%),TAS,,,,[PMID:18463901],y,y +GARD:0017063,Orphanet,171607,ORPHA:171607,8,HP:0012514,Lower limb pain,Frequent (79-30%),TAS,,,,[PMID:18463901],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0000012,Urinary urgency,Occasional (29-5%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0001250,Seizure,Excluded (0%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0002064,Spastic gait,Occasional (29-5%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0002314,Degeneration of the lateral corticospinal tracts,Very frequent (99-80%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0002921,Abnormality of the cerebrospinal fluid,Excluded (0%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0003457,EMG abnormality,Excluded (0%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0007350,Hyperreflexia in upper limbs,Occasional (29-5%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0008075,Progressive pes cavus,Occasional (29-5%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0012898,Abnormal lower-limb motor evoked potentials,Excluded (0%),TAS,,,,[PMID:17605047],y,y +GARD:0017064,Orphanet,171612,ORPHA:171612,20,HP:0100561,Spinal cord lesion,Frequent (79-30%),TAS,,,,[PMID:17605047],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0000020,Urinary incontinence,Excluded (0%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0000726,Dementia,Excluded (0%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0001250,Seizure,Excluded (0%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0002166,Impaired vibration sensation in the lower limbs,Occasional (29-5%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0002314,Degeneration of the lateral corticospinal tracts,Very frequent (99-80%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0002921,Abnormality of the cerebrospinal fluid,Excluded (0%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0003392,First dorsal interossei muscle weakness,Frequent (79-30%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0003393,Thenar muscle atrophy,Very frequent (99-80%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0003426,First dorsal interossei muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0003427,Thenar muscle weakness,Frequent (79-30%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0006892,Frontotemporal cerebral atrophy,Occasional (29-5%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0008075,Progressive pes cavus,Very frequent (99-80%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0009027,Foot dorsiflexor weakness,Occasional (29-5%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0009031,Amyotrophy of ankle musculature,Frequent (79-30%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0009049,Peroneal muscle atrophy,Excluded (0%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0012898,Abnormal lower-limb motor evoked potentials,Excluded (0%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,[PMID:18401025],y,y +GARD:0017065,Orphanet,171617,ORPHA:171617,25,HP:0100561,Spinal cord lesion,Frequent (79-30%),TAS,,,,[PMID:18401025],y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0002925,Elevated circulating thyroid-stimulating hormone concentration,Frequent (79-30%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0003162,Fasting hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0003391,Gowers sign,Occasional (29-5%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0008994,Proximal muscle weakness in lower limbs,Occasional (29-5%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0012548,Fatty replacement of skeletal muscle,Occasional (29-5%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0031506,Increased circulating T4 level,Frequent (79-30%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0031903,Abnormal circulating selenium concentration,Occasional (29-5%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0032210,Decreased circulating free T3,Frequent (79-30%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017068,Orphanet,171706,ORPHA:171706,18,HP:0040215,Abnormal circulating insulin level,Occasional (29-5%),TAS,,,,"[PMID:16228000, PMID:29882503]",y,y +GARD:0017069,Orphanet,171719,ORPHA:171719,8,HP:0000776,Congenital diaphragmatic hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017069,Orphanet,171719,ORPHA:171719,8,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017069,Orphanet,171719,ORPHA:171719,8,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017069,Orphanet,171719,ORPHA:171719,8,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017069,Orphanet,171719,ORPHA:171719,8,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017069,Orphanet,171719,ORPHA:171719,8,HP:0001654,Abnormal heart valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0017069,Orphanet,171719,ORPHA:171719,8,HP:0002097,Emphysema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017069,Orphanet,171719,ORPHA:171719,8,HP:0002827,Hip dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017070,Orphanet,171844,ORPHA:171844,11,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:18990988],y,y +GARD:0017070,Orphanet,171844,ORPHA:171844,11,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:18990988],y,y +GARD:0017070,Orphanet,171844,ORPHA:171844,11,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,[PMID:18990988],y,y +GARD:0017070,Orphanet,171844,ORPHA:171844,11,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,[PMID:18990988],y,y +GARD:0017070,Orphanet,171844,ORPHA:171844,11,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,[PMID:18990988],y,y +GARD:0017070,Orphanet,171844,ORPHA:171844,11,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,[PMID:18990988],y,y +GARD:0017070,Orphanet,171844,ORPHA:171844,11,HP:0001132,Lens subluxation,Frequent (79-30%),TAS,,,,[PMID:18990988],y,y +GARD:0017070,Orphanet,171844,ORPHA:171844,11,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,[PMID:18990988],y,y +GARD:0017070,Orphanet,171844,ORPHA:171844,11,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,[PMID:18990988],y,y +GARD:0017070,Orphanet,171844,ORPHA:171844,11,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,[PMID:18990988],y,y +GARD:0017070,Orphanet,171844,ORPHA:171844,11,HP:0012376,Microphakia,Frequent (79-30%),TAS,,,,[PMID:18990988],y,y +GARD:0017072,Orphanet,171851,ORPHA:171851,8,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,[PMID:23423674],y,y +GARD:0017072,Orphanet,171851,ORPHA:171851,8,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:23423674],y,y +GARD:0017072,Orphanet,171851,ORPHA:171851,8,HP:0001406,Intrahepatic cholestasis,Frequent (79-30%),TAS,,,,[PMID:23423674],y,y +GARD:0017072,Orphanet,171851,ORPHA:171851,8,HP:0002242,Abnormal intestine morphology,Very frequent (99-80%),TAS,,,,[PMID:23423674],y,y +GARD:0017072,Orphanet,171851,ORPHA:171851,8,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,[PMID:23423674],y,y +GARD:0017072,Orphanet,171851,ORPHA:171851,8,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,[PMID:23423674],y,y +GARD:0017072,Orphanet,171851,ORPHA:171851,8,HP:0010837,Decreased circulating ceruloplasmin concentration,Frequent (79-30%),TAS,,,,[PMID:23423674],y,y +GARD:0017072,Orphanet,171851,ORPHA:171851,8,HP:0011967,Decreased circulating copper concentration,Frequent (79-30%),TAS,,,,[PMID:23423674],y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0001250,Seizure,Excluded (0%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0002169,Clonus,Frequent (79-30%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0002314,Degeneration of the lateral corticospinal tracts,Very frequent (99-80%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0002921,Abnormality of the cerebrospinal fluid,Excluded (0%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0003457,EMG abnormality,Excluded (0%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0006895,Lower limb hypertonia,Very frequent (99-80%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0007210,Lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0008075,Progressive pes cavus,Occasional (29-5%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0012898,Abnormal lower-limb motor evoked potentials,Excluded (0%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017073,Orphanet,171863,ORPHA:171863,17,HP:0100561,Spinal cord lesion,Frequent (79-30%),TAS,,,,"[PMID:19061983, PMID:20461110]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000341,Narrow forehead,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000446,Narrow nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000735,Impaired social interactions,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001611,Nasal speech,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001612,Weak cry,Very frequent (99-80%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001776,Bilateral talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0002033,Poor suck,Very frequent (99-80%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0003241,External genital hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0005469,Flat occiput,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0005599,Hypopigmentation of hair,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0006347,Microdontia of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0006829,Severe muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0007730,Iris hypopigmentation,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0007874,Almond-shaped palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0009085,Alveolar ridge overgrowth,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0010627,Anterior pituitary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0010801,Underdeveloped nasolabial fold,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0012166,Skin-picking,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0012168,Head-banging,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0012433,Abnormal social behavior,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0012775,Stellate iris,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0025160,Abnormal temper tantrums,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0040025,Clinodactyly of the 4th finger,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0040082,Happy demeanor,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017074,Orphanet,177907,ORPHA:177907,93,HP:0200096,Triangular-shaped open mouth,Occasional (29-5%),TAS,,,,"[PMID:31394532, PMID:31816617]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0000044,Hypogonadotropic hypogonadism,Very rare (<4-1%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0001010,Hypopigmentation of the skin,Very rare (<4-1%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0003241,External genital hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0004039,Abnormality of ulnar metaphysis,Occasional (29-5%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0004283,Narrow palm,Occasional (29-5%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0005599,Hypopigmentation of hair,Very rare (<4-1%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0007730,Iris hypopigmentation,Very rare (<4-1%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017075,Orphanet,177910,ORPHA:177910,18,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:17095305, PMID:9028458]",y,y +GARD:0017076,Orphanet,177926,ORPHA:177926,12,HP:0000132,Menorrhagia,Frequent (79-30%),TAS,,,,"[PMID:13739554, PMID:16551972, PMID:20301578, PMID:25832012]",y,y +GARD:0017076,Orphanet,177926,ORPHA:177926,12,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,"[PMID:13739554, PMID:16551972, PMID:20301578, PMID:25832012]",y,y +GARD:0017076,Orphanet,177926,ORPHA:177926,12,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,"[PMID:13739554, PMID:16551972, PMID:20301578, PMID:25832012]",y,y +GARD:0017076,Orphanet,177926,ORPHA:177926,12,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:13739554, PMID:16551972, PMID:20301578, PMID:25832012]",y,y +GARD:0017076,Orphanet,177926,ORPHA:177926,12,HP:0003125,Reduced factor VIII activity,Very frequent (99-80%),TAS,,,,"[PMID:13739554, PMID:16551972, PMID:20301578, PMID:25832012]",y,y +GARD:0017076,Orphanet,177926,ORPHA:177926,12,HP:0003645,Prolonged partial thromboplastin time,Occasional (29-5%),TAS,,,,"[PMID:13739554, PMID:16551972, PMID:20301578, PMID:25832012]",y,y +GARD:0017076,Orphanet,177926,ORPHA:177926,12,HP:0004846,Prolonged bleeding after surgery,Frequent (79-30%),TAS,,,,"[PMID:13739554, PMID:16551972, PMID:20301578, PMID:25832012]",y,y +GARD:0017076,Orphanet,177926,ORPHA:177926,12,HP:0005261,Joint hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:13739554, PMID:16551972, PMID:20301578, PMID:25832012]",y,y +GARD:0017076,Orphanet,177926,ORPHA:177926,12,HP:0006298,Prolonged bleeding after dental extraction,Frequent (79-30%),TAS,,,,"[PMID:13739554, PMID:16551972, PMID:20301578, PMID:25832012]",y,y +GARD:0017076,Orphanet,177926,ORPHA:177926,12,HP:0007420,Spontaneous hematomas,Very rare (<4-1%),TAS,,,,"[PMID:13739554, PMID:16551972, PMID:20301578, PMID:25832012]",y,y +GARD:0017076,Orphanet,177926,ORPHA:177926,12,HP:0011890,Prolonged bleeding following procedure,Frequent (79-30%),TAS,,,,"[PMID:13739554, PMID:16551972, PMID:20301578, PMID:25832012]",y,y +GARD:0017076,Orphanet,177926,ORPHA:177926,12,HP:0011891,Post-partum hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:13739554, PMID:16551972, PMID:20301578, PMID:25832012]",y,y +GARD:0017078,Orphanet,178145,ORPHA:178145,14,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0017078,Orphanet,178145,ORPHA:178145,14,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0017078,Orphanet,178145,ORPHA:178145,14,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0017078,Orphanet,178145,ORPHA:178145,14,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0017078,Orphanet,178145,ORPHA:178145,14,HP:0003327,Axial muscle weakness,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0017078,Orphanet,178145,ORPHA:178145,14,HP:0003803,Type 1 muscle fiber predominance,Occasional (29-5%),TAS,,,,[PMID:11079538],y,y +GARD:0017078,Orphanet,178145,ORPHA:178145,14,HP:0004976,Knee dislocation,Occasional (29-5%),TAS,,,,[PMID:11079538],y,y +GARD:0017078,Orphanet,178145,ORPHA:178145,14,HP:0005001,Recurrent patellar dislocation,Occasional (29-5%),TAS,,,,[PMID:11079538],y,y +GARD:0017078,Orphanet,178145,ORPHA:178145,14,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0017078,Orphanet,178145,ORPHA:178145,14,HP:0008954,Intrinsic hand muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0017078,Orphanet,178145,ORPHA:178145,14,HP:0008959,Distal upper limb muscle weakness,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0017078,Orphanet,178145,ORPHA:178145,14,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0017078,Orphanet,178145,ORPHA:178145,14,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0017078,Orphanet,178145,ORPHA:178145,14,HP:0012391,Hyporeflexia of upper limbs,Frequent (79-30%),TAS,,,,[PMID:11079538],y,y +GARD:0017080,Orphanet,178400,ORPHA:178400,13,HP:0000467,Neck muscle weakness,Excluded (0%),TAS,,,,"[PMID:11198284, PMID:9731526]",y,y +GARD:0017080,Orphanet,178400,ORPHA:178400,13,HP:0003325,Limb-girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:11198284, PMID:9731526]",y,y +GARD:0017080,Orphanet,178400,ORPHA:178400,13,HP:0003438,Absent Achilles reflex,Occasional (29-5%),TAS,,,,"[PMID:11198284, PMID:9731526]",y,y +GARD:0017080,Orphanet,178400,ORPHA:178400,13,HP:0003474,Somatic sensory dysfunction,Excluded (0%),TAS,,,,"[PMID:11198284, PMID:9731526]",y,y +GARD:0017080,Orphanet,178400,ORPHA:178400,13,HP:0003738,Exercise-induced myalgia,Frequent (79-30%),TAS,,,,"[PMID:11198284, PMID:9731526]",y,y +GARD:0017080,Orphanet,178400,ORPHA:178400,13,HP:0003805,Rimmed vacuoles,Excluded (0%),TAS,,,,"[PMID:11198284, PMID:9731526]",y,y +GARD:0017080,Orphanet,178400,ORPHA:178400,13,HP:0008954,Intrinsic hand muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:11198284, PMID:9731526]",y,y +GARD:0017080,Orphanet,178400,ORPHA:178400,13,HP:0008963,Tibialis muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11198284, PMID:9731526]",y,y +GARD:0017080,Orphanet,178400,ORPHA:178400,13,HP:0009005,Weakness of the intrinsic hand muscles,Occasional (29-5%),TAS,,,,"[PMID:11198284, PMID:9731526]",y,y +GARD:0017080,Orphanet,178400,ORPHA:178400,13,HP:0009073,Progressive proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11198284, PMID:9731526]",y,y +GARD:0017080,Orphanet,178400,ORPHA:178400,13,HP:0030114,Absent muscle fiber dysferlin,Very frequent (99-80%),TAS,,,,"[PMID:11198284, PMID:9731526]",y,y +GARD:0017080,Orphanet,178400,ORPHA:178400,13,HP:0031177,Finger flexor weakness,Very rare (<4-1%),TAS,,,,"[PMID:11198284, PMID:9731526]",y,y +GARD:0017080,Orphanet,178400,ORPHA:178400,13,HP:0040081,Abnormal circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:11198284, PMID:9731526]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0000831,Insulin-resistant diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0001513,Obesity,Obligate (100%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0002591,Polyphagia,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0003292,Decreased serum leptin,Obligate (100%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0004926,Orthostatic hypotension due to autonomic dysfunction,Frequent (79-30%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0005407,Decreased proportion of CD4-positive helper T cells,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0005419,Decreased T cell activation,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0008187,Absence of secondary sex characteristics,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0008214,Decreased serum estradiol,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0008724,Hypoplasia of the ovary,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017083,Orphanet,179494,ORPHA:179494,21,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:10486419, PMID:17229951, PMID:9202122, PMID:9537324]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0000031,Epididymitis,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0000819,Diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0000988,Skin rash,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0001047,Atopic dermatitis,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0001082,Cholecystitis,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0001370,Rheumatoid arthritis,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002099,Asthma,Frequent (79-30%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002110,Bronchiectasis,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002608,Celiac disease,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002665,Lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002718,Recurrent bacterial infections,Frequent (79-30%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002720,Decreased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002783,Recurrent lower respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002850,Decreased circulating total IgM,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0003193,Allergic rhinitis,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0003765,Psoriasiform dermatitis,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0004315,Decreased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0005231,Chronic gastritis,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0005353,Recurrent herpes,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0006562,Viral hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0011109,Chronic sinusitis,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0011110,Recurrent tonsillitis,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0012387,Bronchitis,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0012476,Decreased specific pneumococcal antibody level,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0020096,Recurrent streptococcal infections,Occasional (29-5%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0030151,Cholangitis,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0030998,Cerebrospinal fluid rhinorrhoea,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0032169,Severe infection,Frequent (79-30%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0032262,Pulmonary tuberculosis,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0032275,Recurrent shingles,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0100324,Scleroderma,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0100523,Liver abscess,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017086,Orphanet,183675,ORPHA:183675,47,HP:0500093,Food allergy,Very rare (<4-1%),TAS,,,,"[PMID:25312759, PMID:28984901, PMID:32157736]",y,y +GARD:0017087,Orphanet,183707,ORPHA:183707,4,HP:0001058,Poor wound healing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017087,Orphanet,183707,ORPHA:183707,4,HP:0001974,Leukocytosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017087,Orphanet,183707,ORPHA:183707,4,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017087,Orphanet,183707,ORPHA:183707,4,HP:0011990,Abnormality of neutrophil physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0000220,Velopharyngeal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0000405,Conductive hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0000668,Hypodontia,Very rare (<4-1%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0001328,Specific learning disability,Very rare (<4-1%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0001537,Umbilical hernia,Very rare (<4-1%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0001561,Polyhydramnios,Very rare (<4-1%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0001572,Macrodontia,Occasional (29-5%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0001696,Situs inversus totalis,Very rare (<4-1%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0001762,Talipes equinovarus,Very rare (<4-1%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0006332,Supernumerary maxillary incisor,Occasional (29-5%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0009088,Speech articulation difficulties,Occasional (29-5%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0011438,Maternal teratogenic exposure,Occasional (29-5%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0031469,Low self esteem,Occasional (29-5%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0040115,Abnormal Eustachian tube morphology,Occasional (29-5%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017091,Orphanet,199302,ORPHA:199302,19,HP:0100336,Bilateral cleft lip,Occasional (29-5%),TAS,,,,"[PMID:19747722, PMID:20796225, PMID:22889852, PMID:26153759, PMID:26709327, PMID:26857758, PMID:27943390, PMID:30406510, PMID:30859050]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0000220,Velopharyngeal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0000327,Hypoplasia of the maxilla,Very rare (<4-1%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0001611,Nasal speech,Occasional (29-5%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0004395,Malnutrition,Occasional (29-5%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0006292,Abnormality of dental eruption,Very frequent (99-80%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0006342,Peg-shaped maxillary lateral incisors,Occasional (29-5%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0010294,Palate fistula,Occasional (29-5%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0011044,Abnormal number of permanent teeth,Occasional (29-5%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0100334,Unilateral cleft palate,Frequent (79-30%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0100337,Bilateral cleft palate,Occasional (29-5%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0200136,Oral-pharyngeal dysphagia,Frequent (79-30%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017092,Orphanet,199306,ORPHA:199306,21,HP:0200153,Agenesis of lateral incisor,Occasional (29-5%),TAS,,,,"[PMID:30136310, PMID:30396411, PMID:31058728, PMID:31071123, PMID:31075568]",y,y +GARD:0017100,Orphanet,206484,ORPHA:206484,11,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,"[PMID:10999808, PMID:1326038, PMID:14149008, PMID:15973330, PMID:16735607, PMID:17504899, PMID:23933507, PMID:24826988, PMID:25535833, PMID:3548944, PMID:4193741]",y,y +GARD:0017100,Orphanet,206484,ORPHA:206484,11,HP:0000137,Abnormality of the ovary,Very frequent (99-80%),TAS,,,,"[PMID:10999808, PMID:1326038, PMID:14149008, PMID:15973330, PMID:16735607, PMID:17504899, PMID:23933507, PMID:24826988, PMID:25535833, PMID:3548944, PMID:4193741]",y,y +GARD:0017100,Orphanet,206484,ORPHA:206484,11,HP:0000149,Ovarian gonadoblastoma,Very frequent (99-80%),TAS,,,,"[PMID:10999808, PMID:1326038, PMID:14149008, PMID:15973330, PMID:16735607, PMID:17504899, PMID:23933507, PMID:24826988, PMID:25535833, PMID:3548944, PMID:4193741]",y,y +GARD:0017100,Orphanet,206484,ORPHA:206484,11,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:10999808, PMID:1326038, PMID:14149008, PMID:15973330, PMID:16735607, PMID:17504899, PMID:23933507, PMID:24826988, PMID:25535833, PMID:3548944, PMID:4193741]",y,y +GARD:0017100,Orphanet,206484,ORPHA:206484,11,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:10999808, PMID:1326038, PMID:14149008, PMID:15973330, PMID:16735607, PMID:17504899, PMID:23933507, PMID:24826988, PMID:25535833, PMID:3548944, PMID:4193741]",y,y +GARD:0017100,Orphanet,206484,ORPHA:206484,11,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:10999808, PMID:1326038, PMID:14149008, PMID:15973330, PMID:16735607, PMID:17504899, PMID:23933507, PMID:24826988, PMID:25535833, PMID:3548944, PMID:4193741]",y,y +GARD:0017100,Orphanet,206484,ORPHA:206484,11,HP:0008703,Gonadal calcification,Frequent (79-30%),TAS,,,,"[PMID:10999808, PMID:1326038, PMID:14149008, PMID:15973330, PMID:16735607, PMID:17504899, PMID:23933507, PMID:24826988, PMID:25535833, PMID:3548944, PMID:4193741]",y,y +GARD:0017100,Orphanet,206484,ORPHA:206484,11,HP:0008723,"Gonadal dysgenesis with female appearance, male",Frequent (79-30%),TAS,,,,"[PMID:10999808, PMID:1326038, PMID:14149008, PMID:15973330, PMID:16735607, PMID:17504899, PMID:23933507, PMID:24826988, PMID:25535833, PMID:3548944, PMID:4193741]",y,y +GARD:0017100,Orphanet,206484,ORPHA:206484,11,HP:0008730,"Female external genitalia in individual with 46,XY karyotype",Very frequent (99-80%),TAS,,,,"[PMID:10999808, PMID:1326038, PMID:14149008, PMID:15973330, PMID:16735607, PMID:17504899, PMID:23933507, PMID:24826988, PMID:25535833, PMID:3548944, PMID:4193741]",y,y +GARD:0017100,Orphanet,206484,ORPHA:206484,11,HP:0030088,Increased serum testosterone level,Occasional (29-5%),TAS,,,,"[PMID:10999808, PMID:1326038, PMID:14149008, PMID:15973330, PMID:16735607, PMID:17504899, PMID:23933507, PMID:24826988, PMID:25535833, PMID:3548944, PMID:4193741]",y,y +GARD:0017100,Orphanet,206484,ORPHA:206484,11,HP:0100621,Dysgerminoma,Frequent (79-30%),TAS,,,,"[PMID:10999808, PMID:1326038, PMID:14149008, PMID:15973330, PMID:16735607, PMID:17504899, PMID:23933507, PMID:24826988, PMID:25535833, PMID:3548944, PMID:4193741]",y,y +GARD:0017106,Orphanet,209919,ORPHA:209919,6,HP:0001394,Cirrhosis,Obligate (100%),TAS,,,,"[PMID:21901654, PMID:31161407, PMID:34321222]",y,y +GARD:0017106,Orphanet,209919,ORPHA:209919,6,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:21901654, PMID:31161407, PMID:34321222]",y,y +GARD:0017106,Orphanet,209919,ORPHA:209919,6,HP:0010837,Decreased circulating ceruloplasmin concentration,Excluded (0%),TAS,,,,"[PMID:21901654, PMID:31161407, PMID:34321222]",y,y +GARD:0017106,Orphanet,209919,ORPHA:209919,6,HP:0010839,Increased urinary copper concentration,Frequent (79-30%),TAS,,,,"[PMID:21901654, PMID:31161407, PMID:34321222]",y,y +GARD:0017106,Orphanet,209919,ORPHA:209919,6,HP:0025321,Copper accumulation in liver,Obligate (100%),TAS,,,,"[PMID:21901654, PMID:31161407, PMID:34321222]",y,y +GARD:0017106,Orphanet,209919,ORPHA:209919,6,HP:0032254,Increased circulating copper concentration,Frequent (79-30%),TAS,,,,"[PMID:21901654, PMID:31161407, PMID:34321222]",y,y +GARD:0017107,Orphanet,209967,ORPHA:209967,14,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,"[PMID:16116111, PMID:19139306]",y,y +GARD:0017107,Orphanet,209967,ORPHA:209967,14,HP:0000640,Gaze-evoked nystagmus,Occasional (29-5%),TAS,,,,"[PMID:16116111, PMID:19139306]",y,y +GARD:0017107,Orphanet,209967,ORPHA:209967,14,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:16116111, PMID:19139306]",y,y +GARD:0017107,Orphanet,209967,ORPHA:209967,14,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:16116111, PMID:19139306]",y,y +GARD:0017107,Orphanet,209967,ORPHA:209967,14,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:16116111, PMID:19139306]",y,y +GARD:0017107,Orphanet,209967,ORPHA:209967,14,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:16116111, PMID:19139306]",y,y +GARD:0017107,Orphanet,209967,ORPHA:209967,14,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,"[PMID:16116111, PMID:19139306]",y,y +GARD:0017107,Orphanet,209967,ORPHA:209967,14,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,"[PMID:16116111, PMID:19139306]",y,y +GARD:0017107,Orphanet,209967,ORPHA:209967,14,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,"[PMID:16116111, PMID:19139306]",y,y +GARD:0017107,Orphanet,209967,ORPHA:209967,14,HP:0002183,Phonophobia,Frequent (79-30%),TAS,,,,"[PMID:16116111, PMID:19139306]",y,y +GARD:0017107,Orphanet,209967,ORPHA:209967,14,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,"[PMID:16116111, PMID:19139306]",y,y +GARD:0017107,Orphanet,209967,ORPHA:209967,14,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:16116111, PMID:19139306]",y,y +GARD:0017107,Orphanet,209967,ORPHA:209967,14,HP:0002321,Vertigo,Very frequent (99-80%),TAS,,,,"[PMID:16116111, PMID:19139306]",y,y +GARD:0017107,Orphanet,209967,ORPHA:209967,14,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:16116111, PMID:19139306]",y,y +GARD:0017108,Orphanet,209970,ORPHA:209970,11,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,[PMID:17502476],y,y +GARD:0017108,Orphanet,209970,ORPHA:209970,11,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:17502476],y,y +GARD:0017108,Orphanet,209970,ORPHA:209970,11,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,[PMID:17502476],y,y +GARD:0017108,Orphanet,209970,ORPHA:209970,11,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:17502476],y,y +GARD:0017108,Orphanet,209970,ORPHA:209970,11,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:17502476],y,y +GARD:0017108,Orphanet,209970,ORPHA:209970,11,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,[PMID:17502476],y,y +GARD:0017108,Orphanet,209970,ORPHA:209970,11,HP:0002131,Episodic ataxia,Very frequent (99-80%),TAS,,,,[PMID:17502476],y,y +GARD:0017108,Orphanet,209970,ORPHA:209970,11,HP:0002321,Vertigo,Very frequent (99-80%),TAS,,,,[PMID:17502476],y,y +GARD:0017108,Orphanet,209970,ORPHA:209970,11,HP:0002411,Myokymia,Occasional (29-5%),TAS,,,,[PMID:17502476],y,y +GARD:0017108,Orphanet,209970,ORPHA:209970,11,HP:0002487,Hyperkinetic movements,Occasional (29-5%),TAS,,,,[PMID:17502476],y,y +GARD:0017108,Orphanet,209970,ORPHA:209970,11,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,[PMID:17502476],y,y +GARD:0017113,Orphanet,211067,ORPHA:211067,6,HP:0000640,Gaze-evoked nystagmus,Frequent (79-30%),TAS,,,,[PMID:10762541],y,y +GARD:0017113,Orphanet,211067,ORPHA:211067,6,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:10762541],y,y +GARD:0017113,Orphanet,211067,ORPHA:211067,6,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:10762541],y,y +GARD:0017113,Orphanet,211067,ORPHA:211067,6,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,[PMID:10762541],y,y +GARD:0017113,Orphanet,211067,ORPHA:211067,6,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,[PMID:10762541],y,y +GARD:0017113,Orphanet,211067,ORPHA:211067,6,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,[PMID:10762541],y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0000157,Abnormality of the tongue,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0000298,Mask-like facies,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0000510,Rod-cone dystrophy,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0000543,Optic disc pallor,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0000580,Pigmentary retinopathy,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0002179,Opisthotonus,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0002454,Eye of the tiger anomaly of globus pallidus,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0002533,Abnormal posturing,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0002659,Increased susceptibility to fractures,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0007325,Generalized dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0012675,Iron accumulation in brain,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017114,Orphanet,216866,ORPHA:216866,28,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:20882425, PMID:23370589]",y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0000488,Retinopathy,Very rare (<4-1%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0000709,Psychosis,Very rare (<4-1%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0000716,Depression,Frequent (79-30%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0002312,Clumsiness,Very rare (<4-1%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0002359,Frequent falls,Very rare (<4-1%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0004373,Focal dystonia,Frequent (79-30%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0008760,Violent behavior,Frequent (79-30%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0012048,Oromandibular dystonia,Occasional (29-5%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0012473,Tongue atrophy,Very rare (<4-1%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0030216,Inertia,Occasional (29-5%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,[PMID:20301663],y,y +GARD:0017115,Orphanet,216873,ORPHA:216873,30,HP:0100710,Impulsivity,Frequent (79-30%),TAS,,,,[PMID:20301663],y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0000951,Abnormality of the skin,Excluded (0%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0000975,Hyperhidrosis,Excluded (0%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0001500,Broad finger,Frequent (79-30%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0001795,Hyperconvex nail,Frequent (79-30%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0001805,Onychogryposis,Frequent (79-30%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0001821,Broad nail,Frequent (79-30%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0001837,Broad toe,Frequent (79-30%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0002164,Nail dysplasia,Frequent (79-30%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0002653,Bone pain,Excluded (0%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0002829,Arthralgia,Excluded (0%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0003549,Abnormality of connective tissue,Very frequent (99-80%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0008391,Dystrophic fingernails,Occasional (29-5%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0011300,Broad fingertip,Frequent (79-30%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0012203,Onychomycosis,Occasional (29-5%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0100759,Clubbing of fingers,Frequent (79-30%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017117,Orphanet,217059,ORPHA:217059,17,HP:0100760,Clubbing of toes,Frequent (79-30%),TAS,,,,"[PMID:11466101, PMID:18805827, PMID:27681482]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000336,Prominent supraorbital ridges,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000362,Otosclerosis,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000493,Abnormal foveal morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000553,Abnormal uvea morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000654,Decreased light- and dark-adapted electroretinogram amplitude,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000662,Nyctalopia,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0000900,Thickened ribs,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001085,Papilledema,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001641,Abnormal pulmonary valve morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001654,Abnormal heart valve morphology,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001702,Abnormal tricuspid valve morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0002159,Heparan sulfate excretion in urine,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0002176,Spinal cord compression,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0002781,Upper airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0003416,Spinal canal stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0004950,Peripheral arterial stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0005019,Diaphyseal thickening,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0005216,Impaired mastication,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0007994,Peripheral visual field loss,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0008301,Dermatan sulfate excretion in urine,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0010535,Sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0011355,Localized skin lesion,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0012185,Constrictive median neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0012478,Temporomandibular joint ankylosis,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0030812,Enlarged tonsils,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0030823,Scleral thickening,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0040261,Increased size of nasopharyngeal adenoids,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017118,Orphanet,217085,ORPHA:217085,77,HP:0410018,Recurrent ear infections,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:21235446]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000336,Prominent supraorbital ridges,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000362,Otosclerosis,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000493,Abnormal foveal morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000553,Abnormal uvea morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000654,Decreased light- and dark-adapted electroretinogram amplitude,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000662,Nyctalopia,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000708,Behavioral abnormality,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0000900,Thickened ribs,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001085,Papilledema,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001263,Global developmental delay,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001268,Mental deterioration,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001641,Abnormal pulmonary valve morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001654,Abnormal heart valve morphology,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001702,Abnormal tricuspid valve morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0002159,Heparan sulfate excretion in urine,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0002176,Spinal cord compression,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0002376,Developmental regression,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0002781,Upper airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0003416,Spinal canal stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0004950,Peripheral arterial stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0005019,Diaphyseal thickening,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0005216,Impaired mastication,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0007994,Peripheral visual field loss,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0008301,Dermatan sulfate excretion in urine,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0010535,Sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0011355,Localized skin lesion,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0012185,Constrictive median neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0012478,Temporomandibular joint ankylosis,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0030812,Enlarged tonsils,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0030823,Scleral thickening,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0040261,Increased size of nasopharyngeal adenoids,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017119,Orphanet,217093,ORPHA:217093,79,HP:0410018,Recurrent ear infections,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:25541100]",y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0000159,Abnormal lip morphology,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0000766,Abnormal sternum morphology,Frequent (79-30%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0000815,Hypergonadotropic hypogonadism,Occasional (29-5%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0001007,Hirsutism,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0001620,High pitched voice,Frequent (79-30%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0008209,Premature ovarian insufficiency,Occasional (29-5%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0011003,High myopia,Occasional (29-5%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0011232,Infra-orbital fold,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0012724,Upper eyelid edema,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0040079,Irregular dentition,Very frequent (99-80%),TAS,,,,[PMID:24449201],y,y +GARD:0017120,Orphanet,217335,ORPHA:217335,28,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,[PMID:24449201],y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000356,Abnormality of the outer ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000717,Autism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0017121,Orphanet,217340,ORPHA:217340,25,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0000218,High palate,Occasional (29-5%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:19520700],y,y +GARD:0017122,Orphanet,217385,ORPHA:217385,19,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,[PMID:19520700],y,y +GARD:0017126,Orphanet,217563,ORPHA:217563,11,HP:0001667,Right ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:10960490, PMID:12784301, PMID:17391469, PMID:19220077]",y,y +GARD:0017126,Orphanet,217563,ORPHA:217563,11,HP:0002092,Pulmonary arterial hypertension,Frequent (79-30%),TAS,,,,"[PMID:10960490, PMID:12784301, PMID:17391469, PMID:19220077]",y,y +GARD:0017126,Orphanet,217563,ORPHA:217563,11,HP:0002113,Pulmonary infiltrates,Frequent (79-30%),TAS,,,,"[PMID:10960490, PMID:12784301, PMID:17391469, PMID:19220077]",y,y +GARD:0017126,Orphanet,217563,ORPHA:217563,11,HP:0002643,Neonatal respiratory distress,Very frequent (99-80%),TAS,,,,"[PMID:10960490, PMID:12784301, PMID:17391469, PMID:19220077]",y,y +GARD:0017126,Orphanet,217563,ORPHA:217563,11,HP:0002789,Tachypnea,Very frequent (99-80%),TAS,,,,"[PMID:10960490, PMID:12784301, PMID:17391469, PMID:19220077]",y,y +GARD:0017126,Orphanet,217563,ORPHA:217563,11,HP:0004876,Spontaneous neonatal pneumothorax,Occasional (29-5%),TAS,,,,"[PMID:10960490, PMID:12784301, PMID:17391469, PMID:19220077]",y,y +GARD:0017126,Orphanet,217563,ORPHA:217563,11,HP:0006515,Interstitial pneumonitis,Occasional (29-5%),TAS,,,,"[PMID:10960490, PMID:12784301, PMID:17391469, PMID:19220077]",y,y +GARD:0017126,Orphanet,217563,ORPHA:217563,11,HP:0006517,Intraalveolar phospholipid accumulation,Very frequent (99-80%),TAS,,,,"[PMID:10960490, PMID:12784301, PMID:17391469, PMID:19220077]",y,y +GARD:0017126,Orphanet,217563,ORPHA:217563,11,HP:0006528,Chronic lung disease,Occasional (29-5%),TAS,,,,"[PMID:10960490, PMID:12784301, PMID:17391469, PMID:19220077]",y,y +GARD:0017126,Orphanet,217563,ORPHA:217563,11,HP:0006530,Abnormal pulmonary interstitial morphology,Very frequent (99-80%),TAS,,,,"[PMID:10960490, PMID:12784301, PMID:17391469, PMID:19220077]",y,y +GARD:0017126,Orphanet,217563,ORPHA:217563,11,HP:0031457,Pulmonary opacity,Frequent (79-30%),TAS,,,,"[PMID:10960490, PMID:12784301, PMID:17391469, PMID:19220077]",y,y +GARD:0017128,Orphanet,217622,ORPHA:217622,5,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:10769282],y,y +GARD:0017128,Orphanet,217622,ORPHA:217622,5,HP:0001635,Congestive heart failure,Very frequent (99-80%),TAS,,,,[PMID:10769282],y,y +GARD:0017128,Orphanet,217622,ORPHA:217622,5,HP:0001644,Dilated cardiomyopathy,Very frequent (99-80%),TAS,,,,[PMID:10769282],y,y +GARD:0017128,Orphanet,217622,ORPHA:217622,5,HP:0030872,Abnormal cardiac ventricular function,Very frequent (99-80%),TAS,,,,[PMID:10769282],y,y +GARD:0017128,Orphanet,217622,ORPHA:217622,5,HP:0040268,Recurrent infections of the middle ear,Very frequent (99-80%),TAS,,,,[PMID:10769282],y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0000488,Retinopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0001029,Poikiloderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0002634,Arteriosclerosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0002671,Basal cell carcinoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0002861,Melanoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0004334,Dermal atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0004337,Abnormality of amino acid metabolism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0006739,Squamous cell carcinoma of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0007108,Demyelinating peripheral neuropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017130,Orphanet,220295,ORPHA:220295,29,HP:0007587,Numerous pigmented freckles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000161,Median cleft lip,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000818,Abnormality of the endocrine system,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000871,Panhypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0002033,Poor suck,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0002270,Abnormality of the autonomic nervous system,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0002363,Abnormal brainstem morphology,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0002793,Abnormal pattern of respiration,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0002871,Central apnea,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0005968,Temperature instability,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0006315,Solitary median maxillary central incisor,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0006528,Chronic lung disease,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0006979,Sleep-wake cycle disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0007301,Oromotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0009062,Infantile axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0009914,Cyclopia,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0009932,Single naris,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0010654,Aplasia of the falx cerebri,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0011442,Abnormal central motor function,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0011787,Central hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0011951,Aspiration pneumonia,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0012285,Abnormal hypothalamus physiology,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0012718,Morphological abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0012806,Proboscis,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0031860,Abnormal heart rate variability,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0040064,Abnormality of limbs,Occasional (29-5%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0040327,Abnormal morphology of the olfactory bulb,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0045005,Neural tube defect,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017131,Orphanet,220386,ORPHA:220386,72,HP:0100704,Cerebral visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20301702, PMID:30182444, PMID:30182446]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0000282,Facial edema,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0000519,Developmental cataract,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0000938,Osteopenia,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0001009,Telangiectasia,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0001029,Poikiloderma,Very frequent (99-80%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0001041,Facial erythema,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0001118,Juvenile cataract,Very frequent (99-80%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0001909,Leukemia,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0001915,Aplastic anemia,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0002164,Nail dysplasia,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0002669,Osteosarcoma,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0002671,Basal cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0002750,Delayed skeletal maturation,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0002860,Squamous cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0002861,Melanoma,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0002970,Genu varum,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0003065,Patellar hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0003761,Calcinosis,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0003995,Abnormality of the radial head,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0004039,Abnormality of ulnar metaphysis,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0004334,Dermal atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0004979,Metaphyseal sclerosis,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0005775,Multiple skeletal anomalies,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0006443,Patellar aplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0007418,Alopecia totalis,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0007556,Plantar hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0008209,Premature ovarian insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0009700,Finger symphalangism,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0009803,Short phalanx of finger,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0009804,Tooth agenesis,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0010049,Short metacarpal,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0010978,Abnormality of immune system physiology,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0012719,Functional abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0020110,Bone fracture,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0031367,Metaphyseal striations,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0100671,Abnormal trabecular bone morphology,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0200044,Porokeratosis,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017134,Orphanet,221008,ORPHA:221008,64,HP:0200102,Sparse or absent eyelashes,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0000282,Facial edema,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0000417,Slender nose,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0001010,Hypopigmentation of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0001029,Poikiloderma,Very frequent (99-80%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0001041,Facial erythema,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0001118,Juvenile cataract,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0001909,Leukemia,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0001915,Aplastic anemia,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0002164,Nail dysplasia,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0002669,Osteosarcoma,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0002671,Basal cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0002756,Pathologic fracture,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0002860,Squamous cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0002861,Melanoma,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0002970,Genu varum,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0003065,Patellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0003189,Long nose,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0003761,Calcinosis,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0003995,Abnormality of the radial head,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0004039,Abnormality of ulnar metaphysis,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0004334,Dermal atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0004979,Metaphyseal sclerosis,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0005775,Multiple skeletal anomalies,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0006443,Patellar aplasia,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0006496,Aplasia/hypoplasia involving bones of the upper limbs,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0007418,Alopecia totalis,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0007556,Plantar hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0009700,Finger symphalangism,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0009803,Short phalanx of finger,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0009804,Tooth agenesis,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0010049,Short metacarpal,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0010978,Abnormality of immune system physiology,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0012719,Functional abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0031367,Metaphyseal striations,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0100238,Synostosis involving bones of the upper limbs,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0100671,Abnormal trabecular bone morphology,Occasional (29-5%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0200044,Porokeratosis,Very rare (<4-1%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017135,Orphanet,221016,ORPHA:221016,67,HP:0200102,Sparse or absent eyelashes,Frequent (79-30%),TAS,,,,"[PMID:20301415, PMID:27287744, PMID:31303264]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000010,Recurrent urinary tract infections,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000122,Unilateral renal agenesis,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000306,Abnormality of the chin,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000609,Optic nerve hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0000998,Hypertrichosis,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0002058,Myopathic facies,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0002100,Recurrent aspiration pneumonia,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0002403,Positive Romberg sign,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0002718,Recurrent bacterial infections,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0002841,Recurrent fungal infections,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0002850,Decreased circulating total IgM,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0003460,Decreased circulating total IgA,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0003765,Psoriasiform dermatitis,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0004425,Flat forehead,Occasional (29-5%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0004429,Recurrent viral infections,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0005387,Combined immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0005407,Decreased proportion of CD4-positive helper T cells,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0007678,Lacrimal duct stenosis,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0009098,Chronic oral candidiasis,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0009650,Short distal phalanx of the thumb,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0009844,Broad middle phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0009891,Underdeveloped supraorbital ridges,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0010282,Thin lower lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0010579,Cone-shaped epiphysis,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0010750,Dermatochalasis,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0010976,B lymphocytopenia,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0025540,Abnormal T cell subset distribution,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0031014,Arteria lusoria,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0031381,Decreased lymphocyte proliferation in response to mitogen,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0031382,Decreased lymphocyte proliferation in response to anti-CD3,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0032132,Decreased circulating total IgG,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0032140,Decreased specific antibody response to vaccination,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0040022,Clinodactyly of the 2nd finger,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0040024,Clinodactyly of the 3rd finger,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0040025,Clinodactyly of the 4th finger,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0040218,Reduced natural killer cell count,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0040288,Nasogastric tube feeding,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017139,Orphanet,221139,ORPHA:221139,69,HP:0410018,Recurrent ear infections,Frequent (79-30%),TAS,,,,"[PMID:19863561, PMID:29180244]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0001285,Spastic tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0002273,Tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0002396,Cogwheel rigidity,Occasional (29-5%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0002446,Astrocytosis,Occasional (29-5%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0003484,Upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0006799,Basal ganglia cysts,Occasional (29-5%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0006957,Loss of ability to walk,Occasional (29-5%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0006999,Basal ganglia gliosis,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0007340,Lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0007374,Atrophy/Degeneration involving the caudate nucleus,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0007688,Undetectable light- and dark-adapted electroretinogram,Occasional (29-5%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0007811,Horizontal pendular nystagmus,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0012697,Small basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017141,Orphanet,225154,ORPHA:225154,36,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:12374138, PMID:14718703, PMID:16786527, PMID:23334465, PMID:29510394, PMID:8554662, PMID:8734018]",y,y +GARD:0017146,Orphanet,228169,ORPHA:228169,7,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017146,Orphanet,228169,ORPHA:228169,7,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0017146,Orphanet,228169,ORPHA:228169,7,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017146,Orphanet,228169,ORPHA:228169,7,HP:0002063,Rigidity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017146,Orphanet,228169,ORPHA:228169,7,HP:0002067,Bradykinesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017146,Orphanet,228169,ORPHA:228169,7,HP:0002075,Dysdiadochokinesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017146,Orphanet,228169,ORPHA:228169,7,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017148,Orphanet,228190,ORPHA:228190,8,HP:0000271,Abnormality of the face,Excluded (0%),TAS,,,,"[PMID:10533032, PMID:19591690]",y,y +GARD:0017148,Orphanet,228190,ORPHA:228190,8,HP:0001643,Patent ductus arteriosus,Obligate (100%),TAS,,,,"[PMID:10533032, PMID:19591690]",y,y +GARD:0017148,Orphanet,228190,ORPHA:228190,8,HP:0001647,Bicuspid aortic valve,Obligate (100%),TAS,,,,"[PMID:10533032, PMID:19591690]",y,y +GARD:0017148,Orphanet,228190,ORPHA:228190,8,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,"[PMID:10533032, PMID:19591690]",y,y +GARD:0017148,Orphanet,228190,ORPHA:228190,8,HP:0005295,Pseudocoarctation of the aorta,Obligate (100%),TAS,,,,"[PMID:10533032, PMID:19591690]",y,y +GARD:0017148,Orphanet,228190,ORPHA:228190,8,HP:0005922,Abnormal hand morphology,Obligate (100%),TAS,,,,"[PMID:10533032, PMID:19591690]",y,y +GARD:0017148,Orphanet,228190,ORPHA:228190,8,HP:0010047,Short 5th metacarpal,Very frequent (99-80%),TAS,,,,"[PMID:10533032, PMID:19591690]",y,y +GARD:0017148,Orphanet,228190,ORPHA:228190,8,HP:0011927,Short digit,Very frequent (99-80%),TAS,,,,"[PMID:10533032, PMID:19591690]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0001970,Tubulointerstitial nephritis,Occasional (29-5%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0002913,Myoglobinuria,Very frequent (99-80%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0003201,Rhabdomyolysis,Occasional (29-5%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0003449,Cold-induced muscle cramps,Occasional (29-5%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0003455,Elevated circulating long chain fatty acid concentration,Frequent (79-30%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0003546,Exercise intolerance,Very frequent (99-80%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0003710,Exercise-induced muscle cramps,Occasional (29-5%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0003738,Exercise-induced myalgia,Very frequent (99-80%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0008682,Renal tubular epithelial necrosis,Occasional (29-5%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0009058,Increased muscle lipid content,Occasional (29-5%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0011964,Intermittent painful muscle spasms,Occasional (29-5%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0012380,Reduced carnitine O-palmitoyltransferase level,Very frequent (99-80%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0040320,Red-brown urine,Very frequent (99-80%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0045045,Elevated circulating acylcarnitine concentration,Frequent (79-30%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017149,Orphanet,228302,ORPHA:228302,21,HP:0100295,Muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:15642848, PMID:20301431, PMID:24398345]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0001714,Ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0001985,Hypoketotic hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0002913,Myoglobinuria,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0003201,Rhabdomyolysis,Occasional (29-5%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0003449,Cold-induced muscle cramps,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0003710,Exercise-induced muscle cramps,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0003738,Exercise-induced myalgia,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0006929,Hypoglycemic encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0008315,Decreased plasma free carnitine,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0011936,Decreased plasma total carnitine,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0011964,Intermittent painful muscle spasms,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0012380,Reduced carnitine O-palmitoyltransferase level,Very frequent (99-80%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0040320,Red-brown urine,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017150,Orphanet,228305,ORPHA:228305,29,HP:0045045,Elevated circulating acylcarnitine concentration,Frequent (79-30%),TAS,,,,"[PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0000113,Polycystic kidney dysplasia,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0000800,Cystic renal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001399,Hepatic failure,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001637,Abnormal myocardium morphology,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001942,Metabolic acidosis,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001970,Tubulointerstitial nephritis,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001985,Hypoketotic hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0001987,Hyperammonemia,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0002134,Abnormality of the basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0002269,Abnormality of neuronal migration,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0002913,Myoglobinuria,Very frequent (99-80%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0003215,Dicarboxylic aciduria,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0006559,Hepatic calcification,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0007229,Intracerebral periventricular calcifications,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0008315,Decreased plasma free carnitine,Very frequent (99-80%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0008682,Renal tubular epithelial necrosis,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0011936,Decreased plasma total carnitine,Very frequent (99-80%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0012380,Reduced carnitine O-palmitoyltransferase level,Very frequent (99-80%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0012722,Heart block,Occasional (29-5%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0040320,Red-brown urine,Very frequent (99-80%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017151,Orphanet,228308,ORPHA:228308,43,HP:0045045,Elevated circulating acylcarnitine concentration,Very frequent (99-80%),TAS,,,,"[PMID:11477613, PMID:18550408, PMID:20301431, PMID:28054946]",y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0000246,Sinusitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0000388,Otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0001864,Clinodactyly of the 5th toe,Occasional (29-5%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0001874,Abnormality of neutrophils,Frequent (79-30%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0004332,Abnormal lymphocyte morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0100533,Inflammatory abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0100763,Abnormality of the lymphatic system,Frequent (79-30%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0100765,Abnormality of the tonsils,Occasional (29-5%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0100838,Recurrent cutaneous abscess formation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017155,Orphanet,229717,ORPHA:229717,28,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0001123,Visual field defect,Frequent (79-30%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0002138,Subarachnoid hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0002326,Transient ischemic attack,Frequent (79-30%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0002363,Abnormal brainstem morphology,Frequent (79-30%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0002616,Aortic root aneurysm,Occasional (29-5%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0002621,Atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0002647,Aortic dissection,Occasional (29-5%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0007029,Cerebral berry aneurysm,Obligate (100%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0012246,Oculomotor nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0012518,Abnormal circle of Willis morphology,Frequent (79-30%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017161,Orphanet,231160,ORPHA:231160,15,HP:0040197,Encephalomalacia,Occasional (29-5%),TAS,,,,"[PMID:16736093, PMID:23054244, PMID:24646873]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0000829,Hypoparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0000846,Adrenal insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0001395,Hepatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0001402,Hepatocellular carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0001722,High-output congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0001954,Recurrent fever,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0001971,Hypersplenism,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0001978,Extramedullary hematopoiesis,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0004823,Anisopoikilocytosis,Very frequent (99-80%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0004840,Hypochromic microcytic anemia,Very frequent (99-80%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0006487,Bowing of the long bones,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0009004,Hypoplasia of the musculature,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0010620,Malar prominence,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0010972,Anemia of inadequate production,Very frequent (99-80%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0011031,Abnormality of iron homeostasis,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0011842,Abnormal skeletal morphology,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0011904,Persistence of hemoglobin F,Very frequent (99-80%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0011905,Reduced hemoglobin A,Very frequent (99-80%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0025066,Decreased mean corpuscular volume,Very frequent (99-80%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0025547,Decreased mean corpuscular hemoglobin concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0031035,Chronic infection,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0040075,Hypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017162,Orphanet,231214,ORPHA:231214,50,HP:0430028,Hyperplasia of the maxilla,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:27811859]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0000114,Proximal tubulopathy,Occasional (29-5%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0000135,Hypogonadism,Very rare (<4-1%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0000819,Diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0000829,Hypoparathyroidism,Very rare (<4-1%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0000846,Adrenal insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0001394,Cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0001402,Hepatocellular carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0001410,Decreased liver function,Occasional (29-5%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0001722,High-output congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0001978,Extramedullary hematopoiesis,Frequent (79-30%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0002176,Spinal cord compression,Very rare (<4-1%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0002659,Increased susceptibility to fractures,Frequent (79-30%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0010972,Anemia of inadequate production,Very frequent (99-80%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0011031,Abnormality of iron homeostasis,Frequent (79-30%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0011904,Persistence of hemoglobin F,Very frequent (99-80%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0012132,Erythroid hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0012465,Elevated hepatic iron concentration,Occasional (29-5%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0025066,Decreased mean corpuscular volume,Very frequent (99-80%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0045048,Increased HbA2 hemoglobin,Frequent (79-30%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0100724,Hypercoagulability,Frequent (79-30%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017163,Orphanet,231222,ORPHA:231222,36,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,"[PMID:20098328, PMID:27811859, PMID:29380178, PMID:29458726]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0000582,Upslanted palpebral fissure,Very rare (<4-1%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0000829,Hypoparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0000846,Adrenal insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0001395,Hepatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0001402,Hepatocellular carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0001531,Failure to thrive in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0001644,Dilated cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0001722,High-output congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0001954,Recurrent fever,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0001971,Hypersplenism,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0001978,Extramedullary hematopoiesis,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0002007,Frontal bossing,Very rare (<4-1%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0004840,Hypochromic microcytic anemia,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0005280,Depressed nasal bridge,Very rare (<4-1%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0009004,Hypoplasia of the musculature,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0010620,Malar prominence,Very rare (<4-1%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0011031,Abnormality of iron homeostasis,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0011273,Anisocytosis,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0011842,Abnormal skeletal morphology,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0011904,Persistence of hemoglobin F,Very frequent (99-80%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0011905,Reduced hemoglobin A,Very frequent (99-80%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0025066,Decreased mean corpuscular volume,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0025547,Decreased mean corpuscular hemoglobin concentration,Frequent (79-30%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0031035,Chronic infection,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0040075,Hypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0200123,Chronic hepatitis,Occasional (29-5%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017164,Orphanet,231226,ORPHA:231226,49,HP:0430028,Hyperplasia of the maxilla,Very rare (<4-1%),TAS,,,,"[PMID:20301599, PMID:20492708, PMID:27811859]",y,y +GARD:0017165,Orphanet,231237,ORPHA:231237,3,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017165,Orphanet,231237,ORPHA:231237,3,HP:0001935,Microcytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017165,Orphanet,231237,ORPHA:231237,3,HP:0011902,Abnormal hemoglobin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017166,Orphanet,231393,ORPHA:231393,6,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017166,Orphanet,231393,ORPHA:231393,6,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017166,Orphanet,231393,ORPHA:231393,6,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017166,Orphanet,231393,ORPHA:231393,6,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017166,Orphanet,231393,ORPHA:231393,6,HP:0011869,Abnormal platelet function,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017166,Orphanet,231393,ORPHA:231393,6,HP:0011902,Abnormal hemoglobin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017167,Orphanet,231401,ORPHA:231401,12,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0017167,Orphanet,231401,ORPHA:231401,12,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017167,Orphanet,231401,ORPHA:231401,12,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017167,Orphanet,231401,ORPHA:231401,12,HP:0001875,Neutropenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017167,Orphanet,231401,ORPHA:231401,12,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,,y,y +GARD:0017167,Orphanet,231401,ORPHA:231401,12,HP:0001935,Microcytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017167,Orphanet,231401,ORPHA:231401,12,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0017167,Orphanet,231401,ORPHA:231401,12,HP:0002488,Acute leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017167,Orphanet,231401,ORPHA:231401,12,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0017167,Orphanet,231401,ORPHA:231401,12,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017167,Orphanet,231401,ORPHA:231401,12,HP:0011903,HbH hemoglobin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017167,Orphanet,231401,ORPHA:231401,12,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0001308,Tongue fasciculations,Frequent (79-30%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0002375,Hypokinesia,Frequent (79-30%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0002490,Increased CSF lactate,Frequent (79-30%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0003324,Generalized muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0003390,Sensory axonal neuropathy,Very frequent (99-80%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0003542,Increased serum pyruvate,Frequent (79-30%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0003557,Increased variability in muscle fiber diameter,Very frequent (99-80%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0006829,Severe muscular hypotonia,Very frequent (99-80%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0009025,Increased connective tissue,Frequent (79-30%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0010994,Abnormal corpus striatum morphology,Very frequent (99-80%),TAS,,,,[PMID:20362274],y,y +GARD:0017171,Orphanet,238329,ORPHA:238329,23,HP:0011343,Moderate global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:20362274],y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0000298,Mask-like facies,Occasional (29-5%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0000717,Autism,Frequent (79-30%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0000722,Obsessive-compulsive behavior,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0002186,Apraxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017172,Orphanet,238446,ORPHA:238446,19,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0017177,Orphanet,238578,ORPHA:238578,4,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017177,Orphanet,238578,ORPHA:238578,4,HP:0001762,Talipes equinovarus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017177,Orphanet,238578,ORPHA:238578,4,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,,y,y +GARD:0017177,Orphanet,238578,ORPHA:238578,4,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000239,Large fontanelles,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0002983,Micromelia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0017181,Orphanet,238750,ORPHA:238750,42,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0000511,Vertical supranuclear gaze palsy,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0000514,Slow saccadic eye movements,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0000570,Abnormal saccadic eye movements,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0000605,Supranuclear gaze palsy,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0000633,Decreased lacrimation,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0000643,Blepharospasm,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0002068,Neuromuscular dysphagia,Occasional (29-5%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0002141,Gait imbalance,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0002172,Postural instability,Very frequent (99-80%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0002304,Akinesia,Occasional (29-5%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0002527,Falls,Very frequent (99-80%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0002530,Axial dystonia,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0002548,Parkinsonism with favorable response to dopaminergic medication,Occasional (29-5%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0006921,Axial muscle stiffness,Occasional (29-5%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0007086,Social and occupational deterioration,Occasional (29-5%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0007158,Progressive extrapyramidal muscular rigidity,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0007164,Slowed slurred speech,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0030953,Conjunctival hyperemia,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017182,Orphanet,240071,ORPHA:240071,28,HP:0100710,Impulsivity,Frequent (79-30%),TAS,,,,"[PMID:10072441, PMID:10388790, PMID:11708994, PMID:12654952, PMID:14107684, PMID:14595660, PMID:14629785, PMID:15852377, PMID:15900030, PMID:16157753, PMID:16157754, PMID:19458322, PMID:7496773]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0000511,Vertical supranuclear gaze palsy,Very frequent (99-80%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0000570,Abnormal saccadic eye movements,Very frequent (99-80%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0000739,Anxiety,Excluded (0%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0002068,Neuromuscular dysphagia,Occasional (29-5%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0002172,Postural instability,Very frequent (99-80%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0002527,Falls,Frequent (79-30%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0002548,Parkinsonism with favorable response to dopaminergic medication,Very frequent (99-80%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0006921,Axial muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017183,Orphanet,240085,ORPHA:240085,20,HP:0010794,Impaired visuospatial constructive cognition,Occasional (29-5%),TAS,,,,"[PMID:10388790, PMID:11708994, PMID:12654952, PMID:14595660, PMID:16157753, PMID:16157754, PMID:16278856, PMID:19458322, PMID:29037499]",y,y +GARD:0017185,Orphanet,243343,ORPHA:243343,5,HP:0003750,Increased muscle fatiguability,Very frequent (99-80%),TAS,,,,[PMID:10102904],y,y +GARD:0017185,Orphanet,243343,ORPHA:243343,5,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,[PMID:10102904],y,y +GARD:0017185,Orphanet,243343,ORPHA:243343,5,HP:0410020,Fish odor,Very frequent (99-80%),TAS,,,,[PMID:10102904],y,y +GARD:0017185,Orphanet,243343,ORPHA:243343,5,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,[PMID:10102904],y,y +GARD:0017185,Orphanet,243343,ORPHA:243343,5,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,[PMID:10102904],y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000289,Broad philtrum,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000311,Round face,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000378,Cupped ear,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000391,Thickened helices,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000594,Shallow anterior chamber,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000637,Long palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000657,Oculomotor apraxia,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001009,Telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001195,Single umbilical artery,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001545,Anteriorly placed anus,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001792,Small nail,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0002392,EEG with polyspike wave complexes,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0002696,Abnormal parietal bone morphology,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0003155,Elevated circulating alkaline phosphatase concentration,Very frequent (99-80%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0006118,Shortening of all distal phalanges of the fingers,Very frequent (99-80%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0006808,Cerebral hypomyelination,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0010850,EEG with spike-wave complexes,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0040194,Increased head circumference,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017188,Orphanet,247262,ORPHA:247262,62,HP:0040195,Decreased head circumference,Occasional (29-5%),TAS,,,,"[PMID:20578257, PMID:22315194, PMID:3346785]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0000013,Hypoplasia of the uterus,Very frequent (99-80%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0000137,Abnormality of the ovary,Occasional (29-5%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0000142,Abnormal vagina morphology,Very frequent (99-80%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0000914,Shield chest,Occasional (29-5%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0001007,Hirsutism,Very frequent (99-80%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0001061,Acne,Very frequent (99-80%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0002292,Frontal balding,Very frequent (99-80%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0002967,Cubitus valgus,Occasional (29-5%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0009890,High anterior hairline,Very frequent (99-80%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0009937,Facial hirsutism,Very frequent (99-80%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017195,Orphanet,247768,ORPHA:247768,22,HP:0030088,Increased serum testosterone level,Very frequent (99-80%),TAS,,,,"[PMID:15317892, PMID:16959810, PMID:17359527, PMID:18182450, PMID:22906151, PMID:23725784]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0002672,Gastrointestinal carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0002885,Medulloblastoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0002894,Neoplasm of the pancreas,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0002895,Papillary thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0003002,Breast carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0003003,Colon cancer,Frequent (79-30%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0004394,Multiple gastric polyps,Frequent (79-30%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0004783,Duodenal polyposis,Frequent (79-30%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0005227,Adenomatous colonic polyposis,Very frequent (99-80%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0006744,Adrenocortical carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0006771,Duodenal adenocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0007649,Congenital hypertrophy of retinal pigment epithelium,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0008256,Adrenocortical adenoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0009592,Astrocytoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0010619,Fibroadenoma of the breast,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0011068,Odontoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0011069,Supernumerary tooth,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0011459,Esophageal carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0012032,Lipoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0025388,Thyroid nodule,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0030434,Pilomatrixoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0100244,Fibrosarcoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0100245,Desmoid tumors,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0100246,Osteoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017197,Orphanet,247806,ORPHA:247806,25,HP:0200040,Epidermoid cyst,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:17938238, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:22976915, PMID:8747580]",y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0000483,Astigmatism,Frequent (79-30%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0000646,Amblyopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0002656,Epiphyseal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0003301,Irregular vertebral endplates,Frequent (79-30%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0007773,Vitreoretinopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0017203,Orphanet,250984,ORPHA:250984,18,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004905,Orphanet,1355,ORPHA:1355,12,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0004905,Orphanet,1355,ORPHA:1355,12,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004905,Orphanet,1355,ORPHA:1355,12,HP:0000163,Abnormal oral cavity morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004905,Orphanet,1355,ORPHA:1355,12,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004905,Orphanet,1355,ORPHA:1355,12,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004905,Orphanet,1355,ORPHA:1355,12,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004905,Orphanet,1355,ORPHA:1355,12,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004905,Orphanet,1355,ORPHA:1355,12,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004905,Orphanet,1355,ORPHA:1355,12,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004905,Orphanet,1355,ORPHA:1355,12,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004905,Orphanet,1355,ORPHA:1355,12,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004905,Orphanet,1355,ORPHA:1355,12,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0000802,Impotence,Very rare (<4-1%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0001634,Mitral valve prolapse,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0002495,Impaired vibratory sensation,Occasional (29-5%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0003438,Absent Achilles reflex,Occasional (29-5%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0003693,Distal amyotrophy,Occasional (29-5%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0007108,Demyelinating peripheral neuropathy,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0007361,Abnormal pons morphology,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0007922,Hypermyelinated retinal nerve fibers,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0007979,Gaze-evoked horizontal nystagmus,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0009027,Foot dorsiflexor weakness,Occasional (29-5%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0010830,Impaired tactile sensation,Occasional (29-5%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0011931,Abnormal cerebellar peduncle morphology,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0012104,Parietal cortical atrophy,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0012896,Abnormal motor evoked potentials,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004910,Orphanet,98,ORPHA:98,38,HP:0100702,Arachnoid cyst,Frequent (79-30%),TAS,,,,[PMID:23497566],y,y +GARD:0004914,Orphanet,293168,ORPHA:293168,11,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0004914,Orphanet,293168,ORPHA:293168,11,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004914,Orphanet,293168,ORPHA:293168,11,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004914,Orphanet,293168,ORPHA:293168,11,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004914,Orphanet,293168,ORPHA:293168,11,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004914,Orphanet,293168,ORPHA:293168,11,HP:0002193,Pseudobulbar behavioral symptoms,Frequent (79-30%),TAS,,,,,y,y +GARD:0004914,Orphanet,293168,ORPHA:293168,11,HP:0002425,Anarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004914,Orphanet,293168,ORPHA:293168,11,HP:0002445,Tetraplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004914,Orphanet,293168,ORPHA:293168,11,HP:0002510,Spastic tetraplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004914,Orphanet,293168,ORPHA:293168,11,HP:0005216,Impaired mastication,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004914,Orphanet,293168,ORPHA:293168,11,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004918,Orphanet,2826,ORPHA:2826,6,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:6639408],y,y +GARD:0004918,Orphanet,2826,ORPHA:2826,6,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,[PMID:6639408],y,y +GARD:0004918,Orphanet,2826,ORPHA:2826,6,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:6639408],y,y +GARD:0004918,Orphanet,2826,ORPHA:2826,6,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,[PMID:6639408],y,y +GARD:0004918,Orphanet,2826,ORPHA:2826,6,HP:0008185,Precocious puberty in males,Frequent (79-30%),TAS,,,,[PMID:6639408],y,y +GARD:0004918,Orphanet,2826,ORPHA:2826,6,HP:0010791,Hyperplasia of the Leydig cells,Frequent (79-30%),TAS,,,,[PMID:6639408],y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0000546,Retinal degeneration,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0001152,Saccadic smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0001278,Orthostatic hypotension,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0002079,Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0002191,Progressive spasticity,Very frequent (99-80%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0002385,Paraparesis,Very frequent (99-80%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0003445,EMG: neuropathic changes,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0003477,Peripheral axonal neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0003482,EMG: axonal abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0003693,Distal amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0006827,Atrophy of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0006913,Frontal cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0006956,Dilation of lateral ventricles,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0007141,Sensorimotor neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0007178,Motor polyneuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0007183,Focal T2 hyperintense basal ganglia lesion,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0007340,Lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0007350,Hyperreflexia in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0009055,Generalized limb muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0025058,Hypothalamic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0025502,Overweight,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0030455,Abnormality of pattern visual evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004919,Orphanet,2822,ORPHA:2822,49,HP:0045007,Abnormal substantia nigra morphology,Occasional (29-5%),TAS,,,,"[PMID:20301389, PMID:32355960, PMID:32593884]",y,y +GARD:0004921,Orphanet,2821,ORPHA:2821,8,HP:0001029,Poikiloderma,Frequent (79-30%),TAS,,,,[PMID:1623621],y,y +GARD:0004921,Orphanet,2821,ORPHA:2821,8,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,[PMID:1623621],y,y +GARD:0004921,Orphanet,2821,ORPHA:2821,8,HP:0003400,Basal lamina onion bulb formation,Frequent (79-30%),TAS,,,,[PMID:1623621],y,y +GARD:0004921,Orphanet,2821,ORPHA:2821,8,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,[PMID:1623621],y,y +GARD:0004921,Orphanet,2821,ORPHA:2821,8,HP:0007020,Progressive spastic paraplegia,Frequent (79-30%),TAS,,,,[PMID:1623621],y,y +GARD:0004921,Orphanet,2821,ORPHA:2821,8,HP:0007108,Demyelinating peripheral neuropathy,Frequent (79-30%),TAS,,,,[PMID:1623621],y,y +GARD:0004921,Orphanet,2821,ORPHA:2821,8,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,[PMID:1623621],y,y +GARD:0004921,Orphanet,2821,ORPHA:2821,8,HP:0011457,Loss of eyelashes,Frequent (79-30%),TAS,,,,[PMID:1623621],y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0001583,Rotary nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0002166,Impaired vibration sensation in the lower limbs,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0002378,Hand tremor,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0002460,Distal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0002540,Inability to walk,Very frequent (99-80%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0002987,Elbow flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0003273,Hip contracture,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0003306,Spinal rigidity,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0005830,Flexion contracture of toe,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0005997,Restricted neck movement due to contractures,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0006380,Knee flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0006466,Ankle flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0007350,Hyperreflexia in upper limbs,Very frequent (99-80%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0011448,Ankle clonus,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0012453,Bilateral wrist flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004922,Orphanet,209951,ORPHA:209951,34,HP:0100712,Abnormal lumbar spine morphology,Occasional (29-5%),TAS,,,,"[PMID:20301682, PMID:21330303]",y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0002607,Bowel incontinence,Frequent (79-30%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:20301361],y,y +GARD:0004923,Orphanet,99015,ORPHA:99015,17,HP:0005340,Spastic/hyperactive bladder,Frequent (79-30%),TAS,,,,[PMID:20301361],y,y +GARD:0004924,Orphanet,139480,ORPHA:139480,9,HP:0001258,Spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:18313024, PMID:24355708]",y,y +GARD:0004924,Orphanet,139480,ORPHA:139480,9,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:18313024, PMID:24355708]",y,y +GARD:0004924,Orphanet,139480,ORPHA:139480,9,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:18313024, PMID:24355708]",y,y +GARD:0004924,Orphanet,139480,ORPHA:139480,9,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:18313024, PMID:24355708]",y,y +GARD:0004924,Orphanet,139480,ORPHA:139480,9,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:18313024, PMID:24355708]",y,y +GARD:0004924,Orphanet,139480,ORPHA:139480,9,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:18313024, PMID:24355708]",y,y +GARD:0004924,Orphanet,139480,ORPHA:139480,9,HP:0006827,Atrophy of the spinal cord,Frequent (79-30%),TAS,,,,"[PMID:18313024, PMID:24355708]",y,y +GARD:0004924,Orphanet,139480,ORPHA:139480,9,HP:0007002,Motor axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:18313024, PMID:24355708]",y,y +GARD:0004924,Orphanet,139480,ORPHA:139480,9,HP:0009055,Generalized limb muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:18313024, PMID:24355708]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0000012,Urinary urgency,Frequent (79-30%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0002839,Urinary bladder sphincter dysfunction,Occasional (29-5%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0003693,Distal amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0006938,Impaired vibration sensation at ankles,Frequent (79-30%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0007350,Hyperreflexia in upper limbs,Occasional (29-5%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0008969,Leg muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0011448,Ankle clonus,Frequent (79-30%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004925,Orphanet,100985,ORPHA:100985,19,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:17098887, PMID:20301339]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0000079,Abnormality of the urinary system,Frequent (79-30%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0001260,Dysarthria,Very rare (<4-1%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0001271,Polyneuropathy,Very rare (<4-1%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0002070,Limb ataxia,Occasional (29-5%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0002078,Truncal ataxia,Occasional (29-5%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0002495,Impaired vibratory sensation,Very frequent (99-80%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0003484,Upper limb muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0006827,Atrophy of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0006986,Upper limb spasticity,Very rare (<4-1%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0007210,Lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0007340,Lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0009129,Upper limb amyotrophy,Very rare (<4-1%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004926,Orphanet,100986,ORPHA:100986,24,HP:0011448,Ankle clonus,Frequent (79-30%),TAS,,,,"[PMID:19187859, PMID:19439420, PMID:24641183]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0000012,Urinary urgency,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0000605,Supranuclear gaze palsy,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0001328,Specific learning disability,Very rare (<4-1%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0002354,Memory impairment,Very rare (<4-1%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0003200,Ragged-red muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0003484,Upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0006895,Lower limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0007164,Slowed slurred speech,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0008322,Abnormal mitochondrial morphology,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0011446,Abnormality of higher mental function,Frequent (79-30%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004927,Orphanet,99013,ORPHA:99013,30,HP:0012514,Lower limb pain,Very rare (<4-1%),TAS,,,,"[PMID:17646629, PMID:9634528, PMID:9635427]",y,y +GARD:0004928,Orphanet,100988,ORPHA:100988,13,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:15711826, PMID:7854534]",y,y +GARD:0004928,Orphanet,100988,ORPHA:100988,13,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:15711826, PMID:7854534]",y,y +GARD:0004928,Orphanet,100988,ORPHA:100988,13,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:15711826, PMID:7854534]",y,y +GARD:0004928,Orphanet,100988,ORPHA:100988,13,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:15711826, PMID:7854534]",y,y +GARD:0004928,Orphanet,100988,ORPHA:100988,13,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:15711826, PMID:7854534]",y,y +GARD:0004928,Orphanet,100988,ORPHA:100988,13,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:15711826, PMID:7854534]",y,y +GARD:0004928,Orphanet,100988,ORPHA:100988,13,HP:0002174,Postural tremor,Occasional (29-5%),TAS,,,,"[PMID:15711826, PMID:7854534]",y,y +GARD:0004928,Orphanet,100988,ORPHA:100988,13,HP:0002395,Lower limb hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:15711826, PMID:7854534]",y,y +GARD:0004928,Orphanet,100988,ORPHA:100988,13,HP:0002495,Impaired vibratory sensation,Very frequent (99-80%),TAS,,,,"[PMID:15711826, PMID:7854534]",y,y +GARD:0004928,Orphanet,100988,ORPHA:100988,13,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:15711826, PMID:7854534]",y,y +GARD:0004928,Orphanet,100988,ORPHA:100988,13,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:15711826, PMID:7854534]",y,y +GARD:0004928,Orphanet,100988,ORPHA:100988,13,HP:0008800,Limited hip movement,Frequent (79-30%),TAS,,,,"[PMID:15711826, PMID:7854534]",y,y +GARD:0004928,Orphanet,100988,ORPHA:100988,13,HP:0010505,Limitation of movement at ankles,Frequent (79-30%),TAS,,,,"[PMID:15711826, PMID:7854534]",y,y +GARD:0004931,Orphanet,2818,ORPHA:2818,4,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004931,Orphanet,2818,ORPHA:2818,4,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004931,Orphanet,2818,ORPHA:2818,4,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004931,Orphanet,2818,ORPHA:2818,4,HP:0010550,Paraplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004932,Orphanet,3011,ORPHA:3011,5,HP:0000510,Rod-cone dystrophy,Frequent (79-30%),TAS,,,,[PMID:1271602],y,y +GARD:0004932,Orphanet,3011,ORPHA:3011,5,HP:0001141,Severely reduced visual acuity,Frequent (79-30%),TAS,,,,[PMID:1271602],y,y +GARD:0004932,Orphanet,3011,ORPHA:3011,5,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,[PMID:1271602],y,y +GARD:0004932,Orphanet,3011,ORPHA:3011,5,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,[PMID:1271602],y,y +GARD:0004932,Orphanet,3011,ORPHA:3011,5,HP:0008610,Infantile sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:1271602],y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0001083,Ectopia lentis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0009778,Short thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0011003,High myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004936,Orphanet,3449,ORPHA:3449,16,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0000546,Retinal degeneration,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0000618,Blindness,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0001129,Large central visual field defect,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0001348,Brisk reflexes,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0002275,Poor motor coordination,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0002333,Motor deterioration,Very frequent (99-80%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0002500,Abnormal cerebral white matter morphology,Very frequent (99-80%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0002876,Episodic tachypnea,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0003739,Myoclonic spasms,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0005324,Disturbance of facial expression,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0006957,Loss of ability to walk,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0007064,Progressive language deterioration,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0007183,Focal T2 hyperintense basal ganglia lesion,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0012379,Abnormal enzyme/coenzyme activity,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0012692,Focal T2 hyperintense thalamic lesion,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0025373,Interictal EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0032324,Non-periodic recurrent fever,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0033454,Tube feeding,Occasional (29-5%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004938,Orphanet,79264,ORPHA:79264,43,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:23470553, PMID:29627028, PMID:30072301, PMID:30470609]",y,y +GARD:0004940,Orphanet,3176,ORPHA:3176,3,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004940,Orphanet,3176,ORPHA:3176,3,HP:0002414,Spina bifida,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004940,Orphanet,3176,ORPHA:3176,3,HP:0010301,Spinal dysraphism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004950,Orphanet,211017,ORPHA:211017,6,HP:0000640,Gaze-evoked nystagmus,Occasional (29-5%),TAS,,,,[PMID:18996908],y,y +GARD:0004950,Orphanet,211017,ORPHA:211017,6,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:18996908],y,y +GARD:0004950,Orphanet,211017,ORPHA:211017,6,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,[PMID:18996908],y,y +GARD:0004950,Orphanet,211017,ORPHA:211017,6,HP:0002070,Limb ataxia,Very frequent (99-80%),TAS,,,,[PMID:18996908],y,y +GARD:0004950,Orphanet,211017,ORPHA:211017,6,HP:0002395,Lower limb hyperreflexia,Occasional (29-5%),TAS,,,,[PMID:18996908],y,y +GARD:0004950,Orphanet,211017,ORPHA:211017,6,HP:0006855,Cerebellar vermis atrophy,Occasional (29-5%),TAS,,,,[PMID:18996908],y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0000570,Abnormal saccadic eye movements,Frequent (79-30%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0002070,Limb ataxia,Very frequent (99-80%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0002078,Truncal ataxia,Very frequent (99-80%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0002366,Abnormal lower motor neuron morphology,Very frequent (99-80%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0002493,Upper motor neuron dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0003474,Somatic sensory dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0007338,Hypermetric saccades,Frequent (79-30%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0010522,Dyslexia,Frequent (79-30%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0010831,Impaired proprioception,Frequent (79-30%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004952,Orphanet,95434,ORPHA:95434,20,HP:0025404,Abnormal visual fixation,Very frequent (99-80%),TAS,,,,"[PMID:11960835, PMID:14681893]",y,y +GARD:0004953,Orphanet,98766,ORPHA:98766,4,HP:0001272,Cerebellar atrophy,Very frequent (99-80%),TAS,,,,[PMID:7874171],y,y +GARD:0004953,Orphanet,98766,ORPHA:98766,4,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,[PMID:7874171],y,y +GARD:0004953,Orphanet,98766,ORPHA:98766,4,HP:0001350,Slurred speech,Very frequent (99-80%),TAS,,,,[PMID:7874171],y,y +GARD:0004953,Orphanet,98766,ORPHA:98766,4,HP:0002311,Incoordination,Very frequent (99-80%),TAS,,,,[PMID:7874171],y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004954,Orphanet,284332,ORPHA:284332,18,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:12811539, PMID:4003033]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0000548,Cone/cone-rod dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0000597,Ophthalmoparesis,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0000602,Ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0000608,Macular degeneration,Occasional (29-5%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0001098,Abnormal fundus morphology,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0001251,Ataxia,Obligate (100%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0001260,Dysarthria,Obligate (100%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0001310,Dysmetria,Obligate (100%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0001347,Hyperreflexia,Obligate (100%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0002310,Orofacial dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0012047,Hemeralopia,Occasional (29-5%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004955,Orphanet,94147,ORPHA:94147,32,HP:0012452,Restless legs,Frequent (79-30%),TAS,,,,"[PMID:20301433, PMID:22915085]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0000273,Facial grimacing,Occasional (29-5%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0002495,Impaired vibratory sensation,Occasional (29-5%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0002835,Aspiration,Occasional (29-5%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0007772,Impaired smooth pursuit,Occasional (29-5%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004956,Orphanet,98760,ORPHA:98760,23,HP:0012110,Hypoplasia of the pons,Occasional (29-5%),TAS,,,,"[PMID:10192387, PMID:10690991, PMID:15732096, PMID:17060579]",y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0002208,Coarse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0002816,Genu recurvatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0002967,Cubitus valgus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0003100,Slender long bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0003298,Spina bifida occulta,Frequent (79-30%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004958,Orphanet,1185,ORPHA:1185,26,HP:0012471,Thick vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0000023,Inguinal hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0000189,Narrow palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0000951,Abnormality of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0001385,Hip dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0002815,Abnormality of the knee,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0002817,Abnormality of the upper limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0002823,Abnormality of femur morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0002991,Abnormality of fibula morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0003019,Abnormality of the wrist,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0006283,Multiple unerupted teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0006333,Crowded maxillary incisors,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0006703,Aplasia/Hypoplasia of the lungs,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0009804,Tooth agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0100559,Lower limb asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0004963,Orphanet,2063,ORPHA:2063,28,HP:0100560,Upper limb asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0000079,Abnormality of the urinary system,Frequent (79-30%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0000474,Thickened nuchal skin fold,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0001233,2-3 finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0001651,Dextrocardia,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0001839,Split foot,Frequent (79-30%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0002414,Spina bifida,Frequent (79-30%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0002557,Hypoplastic nipples,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0002944,Thoracolumbar scoliosis,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0006097,3-4 finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0008589,Hypoplastic helices,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0008593,Prominent antitragus,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0008676,Congenital megaureter,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0009112,Aplasia of the left hemidiaphragm,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0010539,Thin calvarium,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0010704,1-2 finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0012300,Ureteral agenesis,Frequent (79-30%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0025193,Posterolateral diaphragmatic hernia,Frequent (79-30%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0040021,Radial deviation of the thumb,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0045026,Abnormality of the mediastinum,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0100257,Ectrodactyly,Frequent (79-30%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004969,Orphanet,2437,ORPHA:2437,34,HP:0100760,Clubbing of toes,Occasional (29-5%),TAS,,,,"[PMID:18935989, PMID:3308683, PMID:8074153]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0000696,Delayed eruption of permanent teeth,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0000925,Abnormality of the vertebral column,Very frequent (99-80%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0001169,Broad palm,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0001377,Limited elbow extension,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0001607,Subglottic stenosis,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0001621,Weak voice,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0001769,Broad foot,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0002663,Delayed epiphyseal ossification,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0002761,Generalized joint laxity,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0002812,Coxa vara,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0003015,Flared metaphysis,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0003016,Metaphyseal widening,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0003025,Metaphyseal irregularity,Frequent (79-30%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0003026,Short long bone,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0003027,Mesomelia,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0003182,Shallow acetabular fossae,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0003370,Flat capital femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0003895,Flattened humeral epiphyses,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0004482,Relative macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0004586,Biconcave vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0004603,Hyperconvex vertebral body endplates,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0004646,Hypoplasia of the nasal bone,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0004944,Dilatation of the cerebral artery,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0005446,Obtuse angle of mandible,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0006336,Short dental root,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0007707,Congenital aphakia,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0008905,Rhizomelia,Frequent (79-30%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0009826,Limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0010234,Ivory epiphyses of the phalanges of the hand,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0010585,Small epiphyses,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0010740,Osteopathia striata,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0010941,Aplasia of the nasal bone,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0025492,Microcoria,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0030043,Hip subluxation,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0030833,Neck pain,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0030834,Shoulder pain,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0030839,Knee pain,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0031367,Metaphyseal striations,Frequent (79-30%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0040221,Hypoplasia of the dental root,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004970,Orphanet,93357,ORPHA:93357,79,HP:0100864,Short femoral neck,Frequent (79-30%),TAS,,,,"[PMID:30773277, PMID:30773278, PMID:32959051]",y,y +GARD:0004972,Orphanet,3180,ORPHA:3180,3,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004972,Orphanet,3180,ORPHA:3180,3,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004972,Orphanet,3180,ORPHA:3180,3,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0000768,Pectus carinatum,Very rare (<4-1%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0000824,Decreased response to growth hormone stimulation test,Very rare (<4-1%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0000946,Hypoplastic ilia,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0000988,Skin rash,Very rare (<4-1%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0001045,Vitiligo,Very rare (<4-1%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0001876,Pancytopenia,Very rare (<4-1%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0001890,Autoimmune hemolytic anemia,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0001973,Autoimmune thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0002090,Pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0002518,Abnormal periventricular white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0002808,Kyphosis,Very rare (<4-1%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0002979,Bowing of the legs,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0003493,Antinuclear antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0003521,Disproportionate short-trunk short stature,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0005681,Juvenile rheumatoid arthritis,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0009826,Limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0011800,Midface retrusion,Very rare (<4-1%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0012514,Lower limb pain,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0020151,Anti-dsDNA antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0030038,Enchondroma,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0030047,Abnormal lateral ventricle morphology,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0030880,Raynaud phenomenon,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0032252,Granuloma,Occasional (29-5%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0100255,Metaphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004978,Orphanet,1855,ORPHA:1855,52,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:26854080, PMID:26951490, PMID:30558059]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0001602,Laryngeal stenosis,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0002663,Delayed epiphyseal ossification,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0002777,Tracheal stenosis,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0002781,Upper airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0002953,Vertebral compression fracture,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0002970,Genu varum,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0002979,Bowing of the legs,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0003015,Flared metaphysis,Frequent (79-30%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0003016,Metaphyseal widening,Frequent (79-30%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0003025,Metaphyseal irregularity,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0003088,Premature osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0003099,Fibular overgrowth,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0003468,Abnormal vertebral morphology,Frequent (79-30%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0003498,Disproportionate short stature,Frequent (79-30%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0005257,Thoracic hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0006462,Generalized bone demineralization,Frequent (79-30%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0008418,Squared-off platyspondyly,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0008450,Narrow vertebral interpedicular distance,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0008463,Central vertebral hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0009826,Limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004980,Orphanet,93352,ORPHA:93352,33,HP:0025426,Abnormal bronchus morphology,Occasional (29-5%),TAS,,,,"[PMID:28263186, PMID:8074146, PMID:8357004]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0000946,Hypoplastic ilia,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0000974,Hyperextensible skin,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0001377,Limited elbow extension,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0001388,Joint laxity,Very frequent (99-80%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0003015,Flared metaphysis,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0003083,Dislocated radial head,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0003468,Abnormal vertebral morphology,Very frequent (99-80%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0004568,Beaking of vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0006439,Radioulnar dislocation,Frequent (79-30%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0006543,Cardiorespiratory arrest,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0009465,Ulnar deviation of finger,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004982,Orphanet,93359,ORPHA:93359,35,HP:0011341,Long upper lip,Occasional (29-5%),TAS,,,,"[PMID:27245527, PMID:29230159, PMID:30358852, PMID:34159694]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0000097,Focal segmental glomerulosclerosis,Very frequent (99-80%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001003,Multiple lentigines,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001034,Hypermelanotic macule,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001297,Stroke,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001298,Encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001733,Pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002140,Ischemic stroke,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002242,Abnormal intestine morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002376,Developmental regression,Very rare (<4-1%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002621,Atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002637,Cerebral ischemia,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002655,Spondyloepiphyseal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002907,Microscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002926,Abnormality of thyroid physiology,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002938,Lumbar hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0002960,Autoimmunity,Very rare (<4-1%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0003182,Shallow acetabular fossae,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0003300,Ovoid vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0003368,Abnormal femoral head morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0003521,Disproportionate short-trunk short stature,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0004931,Arteriosclerosis of small cerebral arteries,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0005352,Severe T-cell immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0005435,Impaired T cell function,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0005523,Lymphoproliferative disorder,Very rare (<4-1%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0005528,Bone marrow hypocellularity,Very rare (<4-1%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0006344,Abnormality of primary molar morphology,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0006813,Focal hemiclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0008784,Wide capital femoral epiphyses,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0008839,Hypoplastic pelvis,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0012539,Non-Hodgkin lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0012579,Minimal change glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0012593,Nephrotic range proteinuria,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0031409,Abnormal lymphocyte physiology,Very frequent (99-80%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0410373,Abnormal proportion of naive CD4 T cells,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004984,Orphanet,1830,ORPHA:1830,73,HP:0410377,Decreased proportion of naive CD8 T cells,Frequent (79-30%),TAS,,,,"[PMID:20301550, PMID:28796785, PMID:30695151]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0000162,Glossoptosis,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0001552,Barrel-shaped chest,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0002176,Spinal cord compression,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0002795,Abnormal respiratory system physiology,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0002938,Lumbar hyperlordosis,Very frequent (99-80%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0002996,Limited elbow movement,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0003026,Short long bone,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0003097,Short femur,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0003180,Flat acetabular roof,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0003306,Spinal rigidity,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0003521,Disproportionate short-trunk short stature,Very frequent (99-80%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0008462,Cervical instability,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0008755,Laryngotracheomalacia,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0009824,Upper limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0010575,Dysplasia of the femoral head,Very frequent (99-80%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0010585,Small epiphyses,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0030838,Hip pain,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0030839,Knee pain,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0040194,Increased head circumference,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0045060,Aplasia/hypoplasia involving bones of the extremities,Very frequent (99-80%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0100569,Abnormally ossified vertebrae,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004987,Orphanet,94068,ORPHA:94068,42,HP:0100864,Short femoral neck,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:31972903]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000164,Abnormality of the dentition,Very rare (<4-1%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000307,Pointed chin,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000385,Small earlobe,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000470,Short neck,Very rare (<4-1%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0001891,Iron deficiency anemia,Very rare (<4-1%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0002659,Increased susceptibility to fractures,Very rare (<4-1%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0002812,Coxa vara,Very frequent (99-80%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0002866,Hypoplastic iliac wing,Very rare (<4-1%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0002945,Intervertebral space narrowing,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0002948,Vertebral fusion,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0002982,Tibial bowing,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0003025,Metaphyseal irregularity,Very frequent (99-80%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0003300,Ovoid vertebral bodies,Very frequent (99-80%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0003468,Abnormal vertebral morphology,Very frequent (99-80%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0003521,Disproportionate short-trunk short stature,Frequent (79-30%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0003908,Corner fracture of metaphysis,Very frequent (99-80%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0004349,Reduced bone mineral density,Very rare (<4-1%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0004586,Biconcave vertebral bodies,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0004625,Biconvex vertebral bodies,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Very rare (<4-1%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0006385,Short lower limbs,Frequent (79-30%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0007906,Ocular hypertension,Very rare (<4-1%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0008417,Vertebral hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0008422,Vertebral wedging,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0008440,C1-C2 vertebral abnormality,Very rare (<4-1%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0008577,Underfolded helix,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0009763,Limb pain,Frequent (79-30%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0009824,Upper limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0009882,Short distal phalanx of finger,Very rare (<4-1%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0009896,Abnormal antitragus morphology,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0011849,Abnormal bone ossification,Frequent (79-30%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0012368,Flat face,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0030084,Clinodactyly,Very rare (<4-1%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0031427,Abnormal circulating osteocalcin level,Very rare (<4-1%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0032208,Increased urinary type 1 collagen N-terminal telopeptide level,Very rare (<4-1%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004991,Orphanet,93315,ORPHA:93315,54,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,"[PMID:29100092, PMID:32200603]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0000262,Turricephaly,Frequent (79-30%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0000782,Abnormal scapula morphology,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0001678,Atrioventricular block,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0002657,Spondylometaphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0003085,Long fibula,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0003498,Disproportionate short stature,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0004991,Rhizomelic arm shortening,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0005616,Accelerated skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0005871,Metaphyseal chondrodysplasia,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0006543,Cardiorespiratory arrest,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0008786,Iliac crest serration,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0010579,Cone-shaped epiphysis,Occasional (29-5%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004993,Orphanet,93317,ORPHA:93317,25,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,"[PMID:16892303, PMID:24706940]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0001377,Limited elbow extension,Occasional (29-5%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0001384,Abnormal hip joint morphology,Frequent (79-30%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0003022,Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0003071,Flattened epiphysis,Frequent (79-30%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0003300,Ovoid vertebral bodies,Occasional (29-5%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0003365,Arthralgia of the hip,Occasional (29-5%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0003498,Disproportionate short stature,Frequent (79-30%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0005106,Abnormality of the vertebral endplates,Frequent (79-30%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0005863,Type E brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0008788,Delayed pubic bone ossification,Frequent (79-30%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0008812,Flattened femoral head,Occasional (29-5%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0010055,Broad hallux,Occasional (29-5%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0010582,Irregular epiphyses,Frequent (79-30%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0010743,Short metatarsal,Occasional (29-5%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004994,Orphanet,1856,ORPHA:1856,23,HP:0045060,Aplasia/hypoplasia involving bones of the extremities,Frequent (79-30%),TAS,,,,"[PMID:23545312, PMID:31021589]",y,y +GARD:0004997,Orphanet,2903,ORPHA:2903,3,HP:0002086,Abnormality of the respiratory system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004997,Orphanet,2903,ORPHA:2903,3,HP:0002103,Abnormal pleura morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004997,Orphanet,2903,ORPHA:2903,3,HP:0002107,Pneumothorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005003,Orphanet,841,ORPHA:841,3,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005003,Orphanet,841,ORPHA:841,3,HP:0009720,Adenoma sebaceum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005003,Orphanet,841,ORPHA:841,3,HP:0012035,Steatocystoma multiplex,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005012,Orphanet,2017,ORPHA:2017,4,HP:0000464,Abnormality of the neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005012,Orphanet,2017,ORPHA:2017,4,HP:0000465,Webbed neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005012,Orphanet,2017,ORPHA:2017,4,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005012,Orphanet,2017,ORPHA:2017,4,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005015,Orphanet,3196,ORPHA:3196,4,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005015,Orphanet,3196,ORPHA:3196,4,HP:0001399,Hepatic failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005015,Orphanet,3196,ORPHA:3196,4,HP:0006297,Enamel hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005015,Orphanet,3196,ORPHA:3196,4,HP:0011069,Supernumerary tooth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0000541,Retinal detachment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0001634,Mitral valve prolapse,Frequent (79-30%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0004327,Abnormal vitreous humor morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005018,Orphanet,90653,ORPHA:90653,20,HP:0100734,Abnormality of vertebral epiphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005020,Orphanet,90654,ORPHA:90654,8,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0005020,Orphanet,90654,ORPHA:90654,8,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005020,Orphanet,90654,ORPHA:90654,8,HP:0000488,Retinopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005020,Orphanet,90654,ORPHA:90654,8,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005020,Orphanet,90654,ORPHA:90654,8,HP:0000541,Retinal detachment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005020,Orphanet,90654,ORPHA:90654,8,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005020,Orphanet,90654,ORPHA:90654,8,HP:0004327,Abnormal vitreous humor morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005020,Orphanet,90654,ORPHA:90654,8,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005021,Orphanet,166100,ORPHA:166100,12,HP:0000162,Glossoptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005021,Orphanet,166100,ORPHA:166100,12,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005021,Orphanet,166100,ORPHA:166100,12,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005021,Orphanet,166100,ORPHA:166100,12,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005021,Orphanet,166100,ORPHA:166100,12,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005021,Orphanet,166100,ORPHA:166100,12,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005021,Orphanet,166100,ORPHA:166100,12,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005021,Orphanet,166100,ORPHA:166100,12,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005021,Orphanet,166100,ORPHA:166100,12,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005021,Orphanet,166100,ORPHA:166100,12,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005021,Orphanet,166100,ORPHA:166100,12,HP:0005916,Abnormal metacarpal morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005021,Orphanet,166100,ORPHA:166100,12,HP:0100777,Exostoses,Occasional (29-5%),TAS,,,,,y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0000707,Abnormality of the nervous system,Excluded (0%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0000739,Anxiety,Very frequent (99-80%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0000756,Agoraphobia,Frequent (79-30%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0002267,Exaggerated startle response,Frequent (79-30%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0002527,Falls,Very frequent (99-80%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0011964,Intermittent painful muscle spasms,Very frequent (99-80%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0012894,Paraspinal muscle hypertrophy,Frequent (79-30%),TAS,,,,[PMID:27756410],y,y +GARD:0005023,Orphanet,3198,ORPHA:3198,16,HP:0030057,Autoimmune antibody positivity,Frequent (79-30%),TAS,,,,[PMID:27756410],y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0003011,Abnormality of the musculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0003119,Abnormal circulating lipid concentration,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0008065,Aplasia/Hypoplasia of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0100578,Lipoatrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005025,Orphanet,2833,ORPHA:2833,20,HP:0100679,Lack of skin elasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005026,Orphanet,3199,ORPHA:3199,9,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005026,Orphanet,3199,ORPHA:3199,9,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005026,Orphanet,3199,ORPHA:3199,9,HP:0000691,Microdontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005026,Orphanet,3199,ORPHA:3199,9,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005026,Orphanet,3199,ORPHA:3199,9,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005026,Orphanet,3199,ORPHA:3199,9,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005026,Orphanet,3199,ORPHA:3199,9,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005026,Orphanet,3199,ORPHA:3199,9,HP:0005978,Type II diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005026,Orphanet,3199,ORPHA:3199,9,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005027,Orphanet,2972,ORPHA:2972,8,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005027,Orphanet,2972,ORPHA:2972,8,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0005027,Orphanet,2972,ORPHA:2972,8,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005027,Orphanet,2972,ORPHA:2972,8,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005027,Orphanet,2972,ORPHA:2972,8,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005027,Orphanet,2972,ORPHA:2972,8,HP:0005439,Maxillozygomatic hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005027,Orphanet,2972,ORPHA:2972,8,HP:0006329,Alveolar process hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005027,Orphanet,2972,ORPHA:2972,8,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005036,Orphanet,1277,ORPHA:1277,11,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005036,Orphanet,1277,ORPHA:1277,11,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005036,Orphanet,1277,ORPHA:1277,11,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005036,Orphanet,1277,ORPHA:1277,11,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005036,Orphanet,1277,ORPHA:1277,11,HP:0001633,Abnormal mitral valve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005036,Orphanet,1277,ORPHA:1277,11,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005036,Orphanet,1277,ORPHA:1277,11,HP:0003043,Abnormal shoulder morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005036,Orphanet,1277,ORPHA:1277,11,HP:0004299,Hernia of the abdominal wall,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005036,Orphanet,1277,ORPHA:1277,11,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005036,Orphanet,1277,ORPHA:1277,11,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005036,Orphanet,1277,ORPHA:1277,11,HP:0100818,Long thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0000012,Urinary urgency,Occasional (29-5%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0001260,Dysarthria,Very rare (<4-1%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0001510,Growth delay,Very rare (<4-1%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0002063,Rigidity,Very rare (<4-1%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0002067,Bradykinesia,Very rare (<4-1%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0002359,Frequent falls,Very rare (<4-1%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0002395,Lower limb hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0002495,Impaired vibratory sensation,Occasional (29-5%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0006895,Lower limb hypertonia,Very rare (<4-1%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0008944,Distal lower limb amyotrophy,Frequent (79-30%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0011448,Ankle clonus,Frequent (79-30%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,[PMID:17502470],y,y +GARD:0005041,Orphanet,100984,ORPHA:100984,20,HP:0100963,Hyperesthesia,Very rare (<4-1%),TAS,,,,[PMID:17502470],y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0000211,Trismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0000632,Lacrimation abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0000935,Thickened cortex of long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0001954,Recurrent fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0002099,Asthma,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0002104,Apnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0003016,Metaphyseal widening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0006380,Knee flexion contracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0006844,Absent patellar reflexes,Occasional (29-5%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0008000,Decreased corneal reflex,Occasional (29-5%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0010298,Smooth tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0012332,Abnormal autonomic nervous system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0012785,Flexion contracture of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0100028,Ectopic thyroid,Occasional (29-5%),TAS,,,,,y,y +GARD:0005045,Orphanet,3206,ORPHA:3206,44,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0000290,Abnormality of the forehead,Occasional (29-5%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0001338,Partial agenesis of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0002057,Prominent glabella,Occasional (29-5%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0002085,Occipital encephalocele,Frequent (79-30%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0002126,Polymicrogyria,Frequent (79-30%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0002269,Abnormality of neuronal migration,Frequent (79-30%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0002282,Gray matter heterotopia,Frequent (79-30%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0002349,Focal aware seizure,Frequent (79-30%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0002367,Visual hallucinations,Occasional (29-5%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0003330,Abnormal bone structure,Frequent (79-30%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0011195,EEG with focal sharp slow waves,Occasional (29-5%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0011818,Nasofrontal encephalocele,Frequent (79-30%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0012013,EEG with temporal focal spike waves,Occasional (29-5%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0025373,Interictal EEG abnormality,Occasional (29-5%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0031006,Acroparesthesia,Occasional (29-5%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0032046,Focal cortical dysplasia,Frequent (79-30%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0045084,Limb myoclonus,Frequent (79-30%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005050,Orphanet,101030,ORPHA:101030,23,HP:0430005,Abnormal ethmoid bone morphology,Frequent (79-30%),TAS,,,,"[PMID:17035053, PMID:21513859, PMID:24148591, PMID:31559780]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0000076,Vesicoureteral reflux,Very rare (<4-1%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0000544,External ophthalmoplegia,Very rare (<4-1%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0000580,Pigmentary retinopathy,Very rare (<4-1%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0001626,Abnormality of the cardiovascular system,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0001712,Left ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0002333,Motor deterioration,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0002421,Poor head control,Very rare (<4-1%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0002474,Expressive language delay,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0003508,Proportionate short stature,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0003756,Skeletal myopathy,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0005150,Abnormal atrioventricular conduction,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0005162,Abnormal left ventricular function,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0006801,Hyperactive deep tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0006895,Lower limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0006957,Loss of ability to walk,Very rare (<4-1%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0007083,Hyperactive patellar reflex,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0007272,Progressive psychomotor deterioration,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0007350,Hyperreflexia in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0011166,Focal myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0011343,Moderate global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0012817,Noncompaction cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005053,Orphanet,3208,ORPHA:3208,50,HP:0040196,Mild microcephaly,Occasional (29-5%),TAS,,,,"[PMID:12112045, PMID:1492653, PMID:16737791, PMID:19465911, PMID:22972948, PMID:23322652, PMID:24367056, PMID:26008905, PMID:2710360, PMID:6318158, PMID:7609447, PMID:7839816, PMID:8174601]",y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0002208,Coarse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0003134,Abnormality of peripheral nerve conduction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0007307,Rapid neurologic deterioration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0008155,Mucopolysacchariduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0010059,Broad hallux phalanx,Frequent (79-30%),TAS,,,,,y,y +GARD:0005061,Orphanet,585,ORPHA:585,30,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0005066,Orphanet,85275,ORPHA:85275,4,HP:0000528,Anophthalmia,Very frequent (99-80%),TAS,,,,[PMID:1679229],y,y +GARD:0005066,Orphanet,85275,ORPHA:85275,4,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,[PMID:1679229],y,y +GARD:0005066,Orphanet,85275,ORPHA:85275,4,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:1679229],y,y +GARD:0005066,Orphanet,85275,ORPHA:85275,4,HP:0009755,Ankyloblepharon,Very frequent (99-80%),TAS,,,,[PMID:1679229],y,y +GARD:0005068,Orphanet,242,ORPHA:242,4,HP:0000037,Male pseudohermaphroditism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005068,Orphanet,242,ORPHA:242,4,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005068,Orphanet,242,ORPHA:242,4,HP:0000147,Polycystic ovaries,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005068,Orphanet,242,ORPHA:242,4,HP:0008715,Testicular dysgenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0001612,Weak cry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0002269,Abnormality of neuronal migration,Frequent (79-30%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005070,Orphanet,1314,ORPHA:1314,16,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005074,Orphanet,3248,ORPHA:3248,4,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005074,Orphanet,3248,ORPHA:3248,4,HP:0005048,Synostosis of carpal bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0005074,Orphanet,3248,ORPHA:3248,4,HP:0009773,Symphalangism affecting the phalanges of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005074,Orphanet,3248,ORPHA:3248,4,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0001018,Abnormal palmar dermatoglyphics,Occasional (29-5%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0001032,Absent distal interphalangeal creases,Frequent (79-30%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0001245,Small thenar eminence,Frequent (79-30%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0004197,Symphalangism of the 4th finger,Very frequent (99-80%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0004218,Symphalangism of the 5th finger,Very frequent (99-80%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0005650,2-5 finger cutaneous syndactyly,Occasional (29-5%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0005807,Absent distal phalanges,Frequent (79-30%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0006019,Reduced proximal interphalangeal joint space,Very frequent (99-80%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0006143,Abnormal finger flexion creases,Occasional (29-5%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0009700,Finger symphalangism,Frequent (79-30%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0010103,Short distal phalanx of hallux,Occasional (29-5%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0010179,Symphalangism affecting the phalanges of the toes,Frequent (79-30%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0010182,Abnormality of the distal phalanges of the toes,Frequent (79-30%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0010487,Small hypothenar eminence,Frequent (79-30%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,[PMID:6272576],y,y +GARD:0005077,Orphanet,3246,ORPHA:3246,22,HP:0100371,Aplasia/Hypoplasia of the distal phalanx of the 5th toe,Occasional (29-5%),TAS,,,,[PMID:6272576],y,y +GARD:0005081,Orphanet,93402,ORPHA:93402,3,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005081,Orphanet,93402,ORPHA:93402,3,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005081,Orphanet,93402,ORPHA:93402,3,HP:0009773,Symphalangism affecting the phalanges of the hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000444,Convex nasal ridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000656,Ectropion,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0001802,Absent toenail,Frequent (79-30%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0001817,Absent fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0001849,Foot oligodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0002983,Micromelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0002984,Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0003022,Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0003042,Elbow dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0004736,Crossed fused renal ectopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0007477,Abnormal dermatoglyphics,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0009778,Short thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0012165,Oligodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005084,Orphanet,3258,ORPHA:3258,41,HP:0100240,Synostosis of joints,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005087,Orphanet,93403,ORPHA:93403,12,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:22333904, PMID:22448207]",y,y +GARD:0005087,Orphanet,93403,ORPHA:93403,12,HP:0001830,Postaxial foot polydactyly,Frequent (79-30%),TAS,,,,"[PMID:22333904, PMID:22448207]",y,y +GARD:0005087,Orphanet,93403,ORPHA:93403,12,HP:0001841,Preaxial foot polydactyly,Occasional (29-5%),TAS,,,,"[PMID:22333904, PMID:22448207]",y,y +GARD:0005087,Orphanet,93403,ORPHA:93403,12,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,"[PMID:22333904, PMID:22448207]",y,y +GARD:0005087,Orphanet,93403,ORPHA:93403,12,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:22333904, PMID:22448207]",y,y +GARD:0005087,Orphanet,93403,ORPHA:93403,12,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,"[PMID:22333904, PMID:22448207]",y,y +GARD:0005087,Orphanet,93403,ORPHA:93403,12,HP:0004691,2-3 toe syndactyly,Very frequent (99-80%),TAS,,,,"[PMID:22333904, PMID:22448207]",y,y +GARD:0005087,Orphanet,93403,ORPHA:93403,12,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,"[PMID:22333904, PMID:22448207]",y,y +GARD:0005087,Orphanet,93403,ORPHA:93403,12,HP:0006097,3-4 finger syndactyly,Very frequent (99-80%),TAS,,,,"[PMID:22333904, PMID:22448207]",y,y +GARD:0005087,Orphanet,93403,ORPHA:93403,12,HP:0009773,Symphalangism affecting the phalanges of the hand,Frequent (79-30%),TAS,,,,"[PMID:22333904, PMID:22448207]",y,y +GARD:0005087,Orphanet,93403,ORPHA:93403,12,HP:0100260,Mesoaxial polydactyly,Occasional (29-5%),TAS,,,,"[PMID:22333904, PMID:22448207]",y,y +GARD:0005087,Orphanet,93403,ORPHA:93403,12,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,"[PMID:22333904, PMID:22448207]",y,y +GARD:0005088,Orphanet,93404,ORPHA:93404,3,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,,y,y +GARD:0005088,Orphanet,93404,ORPHA:93404,3,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005088,Orphanet,93404,ORPHA:93404,3,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005089,Orphanet,93406,ORPHA:93406,8,HP:0001440,Metatarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005089,Orphanet,93406,ORPHA:93406,8,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0005089,Orphanet,93406,ORPHA:93406,8,HP:0004691,2-3 toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005089,Orphanet,93406,ORPHA:93406,8,HP:0006097,3-4 finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005089,Orphanet,93406,ORPHA:93406,8,HP:0009465,Ulnar deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005089,Orphanet,93406,ORPHA:93406,8,HP:0009701,Metacarpal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005089,Orphanet,93406,ORPHA:93406,8,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005089,Orphanet,93406,ORPHA:93406,8,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005100,Orphanet,840,ORPHA:840,5,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005100,Orphanet,840,ORPHA:840,5,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005100,Orphanet,840,ORPHA:840,5,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0005100,Orphanet,840,ORPHA:840,5,HP:0010815,Nevus sebaceous,Occasional (29-5%),TAS,,,,,y,y +GARD:0005100,Orphanet,840,ORPHA:840,5,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005104,Orphanet,158,ORPHA:158,9,HP:0000467,Neck muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:234182],y,y +GARD:0005104,Orphanet,158,ORPHA:158,9,HP:0001289,Confusion,Very frequent (99-80%),TAS,,,,[PMID:234182],y,y +GARD:0005104,Orphanet,158,ORPHA:158,9,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:234182],y,y +GARD:0005104,Orphanet,158,ORPHA:158,9,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,[PMID:234182],y,y +GARD:0005104,Orphanet,158,ORPHA:158,9,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,[PMID:234182],y,y +GARD:0005104,Orphanet,158,ORPHA:158,9,HP:0002312,Clumsiness,Very frequent (99-80%),TAS,,,,[PMID:234182],y,y +GARD:0005104,Orphanet,158,ORPHA:158,9,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,[PMID:234182],y,y +GARD:0005104,Orphanet,158,ORPHA:158,9,HP:0006846,Acute encephalopathy,Very frequent (99-80%),TAS,,,,[PMID:234182],y,y +GARD:0005104,Orphanet,158,ORPHA:158,9,HP:0007334,Bilateral tonic-clonic seizure with focal onset,Very frequent (99-80%),TAS,,,,[PMID:234182],y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0000151,Aplasia of the uterus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0000891,Cervical ribs,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0001928,Abnormality of coagulation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0002673,Coxa valga,Frequent (79-30%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0002949,Fused cervical vertebrae,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0002990,Fibular aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0002999,Patellar dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0003974,Absent radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0004717,Axial malrotation of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0006495,Aplasia/Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0006498,Aplasia/Hypoplasia of the patella,Frequent (79-30%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0006507,Aplasia/hypoplasia of the humerus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0007413,Nevus flammeus of the forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0009829,Phocomelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0005116,Orphanet,3320,ORPHA:3320,34,HP:0100694,Tibial torsion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000072,Hydroureter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000077,Abnormality of the kidney,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000079,Abnormality of the urinary system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000126,Hydronephrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000176,Submucous cleft hard palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000269,Prominent occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000474,Thickened nuchal skin fold,Frequent (79-30%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0001167,Abnormality of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0001176,Large hands,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0002063,Rigidity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0002121,Generalized non-motor (absence) seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0002133,Status epilepticus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0002748,Rickets,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0002749,Osteomalacia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0002878,Respiratory failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0003172,Abnormality of the pubic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0003189,Long nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0003552,Muscle stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0005108,Abnormal intervertebral disk morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0005613,Aplasia/hypoplasia of the femur,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0006660,Aplastic clavicle,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0008818,Large iliac wing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0009832,Abnormal distal phalanx morphology of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0009836,Broad distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0009912,Abnormal tragus morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0010443,Bifid femur,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0010935,Abnormality of the upper urinary tract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0011097,Epileptic spasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0011457,Loss of eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0045074,Thin eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0100530,Abnormal calcium-phosphate regulating hormone level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005120,Orphanet,2636,ORPHA:2636,74,HP:0100569,Abnormally ossified vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0000336,Prominent supraorbital ridges,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0000674,Anodontia,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0000677,Oligodontia,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0001850,Abnormality of the tarsal bones,Occasional (29-5%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0001852,Sandal gap,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0002684,Thickened calvaria,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0002738,Hypoplastic frontal sinuses,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0003042,Elbow dislocation,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0005048,Synostosis of carpal bones,Occasional (29-5%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0005640,Abnormal vertebral segmentation and fusion,Occasional (29-5%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0006487,Bowing of the long bones,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0009623,Proximal placement of thumb,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0009778,Short thumb,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0010109,Short hallux,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005121,Orphanet,90650,ORPHA:90650,27,HP:0011001,Increased bone mineral density,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005123,Orphanet,1094,ORPHA:1094,8,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0005123,Orphanet,1094,ORPHA:1094,8,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005123,Orphanet,1094,ORPHA:1094,8,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0005123,Orphanet,1094,ORPHA:1094,8,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0005123,Orphanet,1094,ORPHA:1094,8,HP:0001798,Anonychia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005123,Orphanet,1094,ORPHA:1094,8,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0005123,Orphanet,1094,ORPHA:1094,8,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0005123,Orphanet,1094,ORPHA:1094,8,HP:0010624,Aplastic/hypoplastic toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000049,Shawl scrotum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000349,Widow's peak,Occasional (29-5%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000472,Long neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000637,Long palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0000974,Hyperextensible skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0002002,Deep philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0002208,Coarse hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0005599,Hypopigmentation of hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0010807,Open bite,Frequent (79-30%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0011359,Dry hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0005124,Orphanet,1974,ORPHA:1974,34,HP:0200021,Down-sloping shoulders,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005133,Orphanet,2885,ORPHA:2885,14,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005133,Orphanet,2885,ORPHA:2885,14,HP:0000499,Abnormal eyelash morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005133,Orphanet,2885,ORPHA:2885,14,HP:0000534,Abnormal eyebrow morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005133,Orphanet,2885,ORPHA:2885,14,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005133,Orphanet,2885,ORPHA:2885,14,HP:0001029,Poikiloderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005133,Orphanet,2885,ORPHA:2885,14,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005133,Orphanet,2885,ORPHA:2885,14,HP:0001100,Heterochromia iridis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005133,Orphanet,2885,ORPHA:2885,14,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005133,Orphanet,2885,ORPHA:2885,14,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005133,Orphanet,2885,ORPHA:2885,14,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0005133,Orphanet,2885,ORPHA:2885,14,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005133,Orphanet,2885,ORPHA:2885,14,HP:0007400,Irregular hyperpigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005133,Orphanet,2885,ORPHA:2885,14,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0005133,Orphanet,2885,ORPHA:2885,14,HP:0012733,Macule,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0001061,Acne,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0001634,Mitral valve prolapse,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0002816,Genu recurvatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0004568,Beaking of vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0006480,Premature loss of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0010885,Avascular necrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0012471,Thick vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005138,Orphanet,137834,ORPHA:137834,33,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0000211,Trismus,Very frequent (99-80%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0002179,Opisthotonus,Very frequent (99-80%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0002501,Spasticity of pharyngeal muscles,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0003345,Elevated urinary norepinephrine,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0003552,Muscle stiffness,Very frequent (99-80%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0003639,Elevated urinary epinephrine,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0005341,Autonomic bladder dysfunction,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0005363,Humoral immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0011355,Localized skin lesion,Frequent (79-30%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0011964,Intermittent painful muscle spasms,Frequent (79-30%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0025145,Rigors,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0025258,Stiff neck,Frequent (79-30%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0025425,Laryngospasm,Occasional (29-5%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005144,Orphanet,3299,ORPHA:3299,30,HP:0040212,Risus sardonicus,Very frequent (99-80%),TAS,,,,"[PMID:30935736, PMID:31687615]",y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0004059,Radial club hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0004422,Biparietal narrowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0006703,Aplasia/Hypoplasia of the lungs,Occasional (29-5%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0010515,Aplasia/Hypoplasia of the thymus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005151,Orphanet,3305,ORPHA:3305,17,HP:0100720,Hypoplasia of the ear cartilage,Frequent (79-30%),TAS,,,,,y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000028,Cryptorchidism,Very rare (<4-1%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000122,Unilateral renal agenesis,Very rare (<4-1%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000133,Gonadal dysgenesis,Very rare (<4-1%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0001636,Tetralogy of Fallot,Very rare (<4-1%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0001762,Talipes equinovarus,Very rare (<4-1%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0002007,Frontal bossing,Excluded (0%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0002307,Drooling,Very frequent (99-80%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0006863,Severe expressive language delay,Frequent (79-30%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0010529,Echolalia,Frequent (79-30%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0011352,Severe receptive language delay,Frequent (79-30%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0012169,Self-biting,Frequent (79-30%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0012443,Abnormality of brain morphology,Occasional (29-5%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005153,Orphanet,3306,ORPHA:3306,41,HP:0100790,Hernia,Very rare (<4-1%),TAS,,,,"[PMID:19019226, PMID:24239951]",y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0000143,Rectovaginal fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0000465,Webbed neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0000637,Long palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0001334,Communicating hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0001636,Tetralogy of Fallot,Frequent (79-30%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0001669,Transposition of the great arteries,Frequent (79-30%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0002575,Tracheoesophageal fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0002937,Hemivertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005158,Orphanet,1780,ORPHA:1780,25,HP:0004602,Cervical C2/C3 vertebral fusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005170,Orphanet,3235,ORPHA:3235,2,HP:0000381,Stapes ankylosis,Very frequent (99-80%),TAS,,,,"[PMID:33710147, PMID:8818948]",y,y +GARD:0005170,Orphanet,3235,ORPHA:3235,2,HP:0008513,Bilateral conductive hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:33710147, PMID:8818948]",y,y +GARD:0005175,Orphanet,3316,ORPHA:3316,11,HP:0000003,Multicystic kidney dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005175,Orphanet,3316,ORPHA:3316,11,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005175,Orphanet,3316,ORPHA:3316,11,HP:0000204,Cleft upper lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005175,Orphanet,3316,ORPHA:3316,11,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005175,Orphanet,3316,ORPHA:3316,11,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005175,Orphanet,3316,ORPHA:3316,11,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0005175,Orphanet,3316,ORPHA:3316,11,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0005175,Orphanet,3316,ORPHA:3316,11,HP:0001562,Oligohydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005175,Orphanet,3316,ORPHA:3316,11,HP:0004383,Hypoplastic left heart,Frequent (79-30%),TAS,,,,,y,y +GARD:0005175,Orphanet,3316,ORPHA:3316,11,HP:0008678,Renal hypoplasia/aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005175,Orphanet,3316,ORPHA:3316,11,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000107,Renal cyst,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000162,Glossoptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000364,Hearing abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0002435,Meningocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0002612,Congenital hepatic fibrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0005177,Orphanet,2031,ORPHA:2031,29,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0005180,Orphanet,1861,ORPHA:1861,13,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005180,Orphanet,1861,ORPHA:1861,13,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005180,Orphanet,1861,ORPHA:1861,13,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005180,Orphanet,1861,ORPHA:1861,13,HP:0000944,Abnormality of the metaphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005180,Orphanet,1861,ORPHA:1861,13,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005180,Orphanet,1861,ORPHA:1861,13,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005180,Orphanet,1861,ORPHA:1861,13,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005180,Orphanet,1861,ORPHA:1861,13,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005180,Orphanet,1861,ORPHA:1861,13,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0005180,Orphanet,1861,ORPHA:1861,13,HP:0001334,Communicating hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005180,Orphanet,1861,ORPHA:1861,13,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005180,Orphanet,1861,ORPHA:1861,13,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005180,Orphanet,1861,ORPHA:1861,13,HP:0009826,Limb undergrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005181,Orphanet,1759,ORPHA:1759,12,HP:0000921,Missing ribs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005181,Orphanet,1759,ORPHA:1759,12,HP:0001651,Dextrocardia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005181,Orphanet,1759,ORPHA:1759,12,HP:0001702,Abnormal tricuspid valve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005181,Orphanet,1759,ORPHA:1759,12,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005181,Orphanet,1759,ORPHA:1759,12,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005181,Orphanet,1759,ORPHA:1759,12,HP:0002435,Meningocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005181,Orphanet,1759,ORPHA:1759,12,HP:0002566,Intestinal malrotation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005181,Orphanet,1759,ORPHA:1759,12,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005181,Orphanet,1759,ORPHA:1759,12,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005181,Orphanet,1759,ORPHA:1759,12,HP:0100555,Asymmetric growth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005181,Orphanet,1759,ORPHA:1759,12,HP:0100563,Diastomatomyelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005181,Orphanet,1759,ORPHA:1759,12,HP:0100867,Duodenal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0001047,Atopic dermatitis,Occasional (29-5%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0001551,Abnormal umbilicus morphology,Frequent (79-30%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0001598,Concave nail,Occasional (29-5%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0004690,Thickened Achilles tendon,Occasional (29-5%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0006203,Decreased movement range in interphalangeal joints,Occasional (29-5%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0007404,Nonepidermolytic palmoplantar hyperkeratosis,Obligate (100%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0007446,Palmoplantar blistering,Occasional (29-5%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0007447,Diffuse palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0012203,Onychomycosis,Frequent (79-30%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0025524,Palmoplantar scaling skin,Occasional (29-5%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0032523,Tendon thickening,Occasional (29-5%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0032541,Knuckle pad,Occasional (29-5%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005186,Orphanet,530838,ORPHA:530838,15,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,"[PMID:29489036, PMID:7528239]",y,y +GARD:0005188,Orphanet,3204,ORPHA:3204,12,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005188,Orphanet,3204,ORPHA:3204,12,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005188,Orphanet,3204,ORPHA:3204,12,HP:0000616,Miosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005188,Orphanet,3204,ORPHA:3204,12,HP:0000979,Purpura,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005188,Orphanet,3204,ORPHA:3204,12,HP:0001746,Asplenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005188,Orphanet,3204,ORPHA:3204,12,HP:0001872,Abnormality of thrombocytes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005188,Orphanet,3204,ORPHA:3204,12,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005188,Orphanet,3204,ORPHA:3204,12,HP:0001928,Abnormality of coagulation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005188,Orphanet,3204,ORPHA:3204,12,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005188,Orphanet,3204,ORPHA:3204,12,HP:0003011,Abnormality of the musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005188,Orphanet,3204,ORPHA:3204,12,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005188,Orphanet,3204,ORPHA:3204,12,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005194,Orphanet,3002,ORPHA:3002,10,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,"[PMID:26456477, PMID:26869291, PMID:27222699, PMID:27817251]",y,y +GARD:0005194,Orphanet,3002,ORPHA:3002,10,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:26456477, PMID:26869291, PMID:27222699, PMID:27817251]",y,y +GARD:0005194,Orphanet,3002,ORPHA:3002,10,HP:0000967,Petechiae,Frequent (79-30%),TAS,,,,"[PMID:26456477, PMID:26869291, PMID:27222699, PMID:27817251]",y,y +GARD:0005194,Orphanet,3002,ORPHA:3002,10,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:26456477, PMID:26869291, PMID:27222699, PMID:27817251]",y,y +GARD:0005194,Orphanet,3002,ORPHA:3002,10,HP:0000979,Purpura,Frequent (79-30%),TAS,,,,"[PMID:26456477, PMID:26869291, PMID:27222699, PMID:27817251]",y,y +GARD:0005194,Orphanet,3002,ORPHA:3002,10,HP:0001342,Cerebral hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:26456477, PMID:26869291, PMID:27222699, PMID:27817251]",y,y +GARD:0005194,Orphanet,3002,ORPHA:3002,10,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:26456477, PMID:26869291, PMID:27222699, PMID:27817251]",y,y +GARD:0005194,Orphanet,3002,ORPHA:3002,10,HP:0001907,Thromboembolism,Very frequent (99-80%),TAS,,,,"[PMID:26456477, PMID:26869291, PMID:27222699, PMID:27817251]",y,y +GARD:0005194,Orphanet,3002,ORPHA:3002,10,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:26456477, PMID:26869291, PMID:27222699, PMID:27817251]",y,y +GARD:0005194,Orphanet,3002,ORPHA:3002,10,HP:0004420,Arterial thrombosis,Frequent (79-30%),TAS,,,,"[PMID:26456477, PMID:26869291, PMID:27222699, PMID:27817251]",y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0001025,Urticaria,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0001053,Hypopigmented skin patches,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0001199,Triphalangeal thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0002300,Mutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0002357,Dysphasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0002381,Aphasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0008402,Ridged fingernail,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0009778,Short thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0010529,Echolalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0040036,Onychogryposis of fingernail,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005199,Orphanet,2251,ORPHA:2251,24,HP:0100798,Fingernail dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0000709,Psychosis,Very rare (<4-1%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0000751,Personality changes,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0001291,Abnormal cranial nerve morphology,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0001308,Tongue fasciculations,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0001637,Abnormal myocardium morphology,Very rare (<4-1%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0002197,Generalized-onset seizure,Very rare (<4-1%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0002311,Incoordination,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0002487,Hyperkinetic movements,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0002910,Elevated hepatic transaminase,Very rare (<4-1%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0003237,Increased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0003470,Paralysis,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0003496,Increased circulating IgM level,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0003565,Elevated erythrocyte sedimentation rate,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0007359,Focal-onset seizure,Very rare (<4-1%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0009763,Limb pain,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0010628,Facial palsy,Very rare (<4-1%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0011112,Abnormality of serum cytokine level,Frequent (79-30%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0011227,Elevated circulating C-reactive protein concentration,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0011392,Abnormality of the vestibular nerve,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0011441,Abnormality of the medulla oblongata,Very rare (<4-1%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0011450,Unusual CNS infection,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0012229,CSF pleocytosis,Very frequent (99-80%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0012486,Myelitis,Very rare (<4-1%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0012747,Abnormal brainstem MRI signal intensity,Very rare (<4-1%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0020071,Viremia,Frequent (79-30%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0025258,Stiff neck,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0030196,Fatigable weakness of respiratory muscles,Very rare (<4-1%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0031003,Polyneuritis,Very rare (<4-1%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0031258,Delirium,Very rare (<4-1%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0031987,Diminished ability to concentrate,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0032044,Decreased vigilance,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005216,Orphanet,297,ORPHA:297,63,HP:3000047,Abnormal glossopharyngeal nerve morphology,Occasional (29-5%),TAS,,,,"[PMID:25984517, PMID:26601448, PMID:28928417]",y,y +GARD:0005221,Orphanet,640,ORPHA:640,10,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005221,Orphanet,640,ORPHA:640,10,HP:0001605,Vocal cord paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005221,Orphanet,640,ORPHA:640,10,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0005221,Orphanet,640,ORPHA:640,10,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005221,Orphanet,640,ORPHA:640,10,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0005221,Orphanet,640,ORPHA:640,10,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005221,Orphanet,640,ORPHA:640,10,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005221,Orphanet,640,ORPHA:640,10,HP:0003431,Decreased motor nerve conduction velocity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005221,Orphanet,640,ORPHA:640,10,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005221,Orphanet,640,ORPHA:640,10,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0000820,Abnormality of the thyroid gland,Occasional (29-5%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0002823,Abnormality of femur morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0002980,Femoral bowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0002982,Tibial bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0002991,Abnormality of fibula morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0002992,Abnormality of tibia morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0002997,Abnormality of the ulna,Occasional (29-5%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0003063,Abnormality of the humerus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0003177,Squared iliac bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0006501,Aplasia/Hypoplasia of the radius,Occasional (29-5%),TAS,,,,,y,y +GARD:0005232,Orphanet,3344,ORPHA:3344,20,HP:0010502,Fibular bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005233,Orphanet,3346,ORPHA:3346,5,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005233,Orphanet,3346,ORPHA:3346,5,HP:0001671,Abnormal cardiac septum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005233,Orphanet,3346,ORPHA:3346,5,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005233,Orphanet,3346,ORPHA:3346,5,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005233,Orphanet,3346,ORPHA:3346,5,HP:0100682,Tracheal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0002093,Respiratory insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0002777,Tracheal stenosis,Frequent (79-30%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0002781,Upper airway obstruction,Frequent (79-30%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0002787,Tracheal calcification,Very frequent (99-80%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0005607,Abnormal tracheobronchial morphology,Frequent (79-30%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0010307,Stridor,Occasional (29-5%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0012387,Bronchitis,Frequent (79-30%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0025426,Abnormal bronchus morphology,Frequent (79-30%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0030828,Wheezing,Occasional (29-5%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0031245,Productive cough,Very frequent (99-80%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0031352,Chest tightness,Occasional (29-5%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0032016,Abnormal sputum,Frequent (79-30%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0100593,Calcification of cartilage,Frequent (79-30%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0100633,Esophagitis,Occasional (29-5%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005235,Orphanet,3348,ORPHA:3348,23,HP:0100750,Atelectasis,Very rare (<4-1%),TAS,,,,"[PMID:2509829, PMID:31171132, PMID:32339049, PMID:33183038]",y,y +GARD:0005238,Orphanet,3052,ORPHA:3052,5,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:3177453],y,y +GARD:0005238,Orphanet,3052,ORPHA:3052,5,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:3177453],y,y +GARD:0005238,Orphanet,3052,ORPHA:3052,5,HP:0003538,Increased iduronate sulfatase level,Excluded (0%),TAS,,,,[PMID:3177453],y,y +GARD:0005238,Orphanet,3052,ORPHA:3052,5,HP:0003765,Psoriasiform dermatitis,Frequent (79-30%),TAS,,,,[PMID:3177453],y,y +GARD:0005238,Orphanet,3052,ORPHA:3052,5,HP:0008064,Ichthyosis,Excluded (0%),TAS,,,,[PMID:3177453],y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0000529,Progressive visual loss,Very frequent (99-80%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0000590,Progressive external ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0000649,Abnormality of visual evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0000819,Diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0001133,Constriction of peripheral visual field,Occasional (29-5%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0001258,Spastic paraplegia,Occasional (29-5%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0001638,Cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0002076,Migraine,Very rare (<4-1%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0003325,Limb-girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0003438,Absent Achilles reflex,Occasional (29-5%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0003444,EMG: chronic denervation signs,Occasional (29-5%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0003737,Mitochondrial myopathy,Frequent (79-30%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0004463,Absent brainstem auditory responses,Frequent (79-30%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0007002,Motor axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0012511,Temporal optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0020119,Abnormal retinal nerve fiber layer morphology,Frequent (79-30%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005243,Orphanet,1215,ORPHA:1215,26,HP:0100285,EMG: impaired neuromuscular transmission,Frequent (79-30%),TAS,,,,"[PMID:22197506, PMID:24138050]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000211,Trismus,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000282,Facial edema,Frequent (79-30%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000553,Abnormal uvea morphology,Very rare (<4-1%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000573,Retinal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000587,Abnormality of the optic nerve,Very rare (<4-1%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000651,Diplopia,Very rare (<4-1%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0001287,Meningitis,Very rare (<4-1%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0001298,Encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0002301,Hemiplegia,Very rare (<4-1%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0002381,Aphasia,Very rare (<4-1%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0002921,Abnormality of the cerebrospinal fluid,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0003212,Increased circulating IgE level,Frequent (79-30%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0003487,Babinski sign,Very rare (<4-1%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0005986,Limitation of neck motion,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0009916,Anisocoria,Very rare (<4-1%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0010628,Facial palsy,Very rare (<4-1%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0025342,Central retinal artery occlusion,Very rare (<4-1%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0030953,Conjunctival hyperemia,Frequent (79-30%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0100539,Periorbital edema,Frequent (79-30%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005250,Orphanet,863,ORPHA:863,42,HP:0200026,Ocular pain,Occasional (29-5%),TAS,,,,"[PMID:11099848, PMID:23829915]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0000023,Inguinal hernia,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0000089,Renal hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0000113,Polycystic kidney dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0000501,Glaucoma,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0000778,Hypoplasia of the thymus,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001392,Abnormality of the liver,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001394,Cirrhosis,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001395,Hepatic fibrosis,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001631,Atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001636,Tetralogy of Fallot,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001647,Bicuspid aortic valve,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001659,Aortic regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001744,Splenomegaly,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001888,Lymphopenia,Occasional (29-5%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001894,Thrombocytosis,Occasional (29-5%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0002041,Intractable diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0002224,Woolly hair,Very frequent (99-80%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0002299,Brittle hair,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0002583,Colitis,Occasional (29-5%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0002884,Hepatoblastoma,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0003139,Panhypogammaglobulinemia,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0004969,Peripheral pulmonary artery stenosis,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0005263,Gastritis,Occasional (29-5%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0007513,Generalized hypopigmentation,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0009886,Trichorrhexis nodosa,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0011031,Abnormality of iron homeostasis,Occasional (29-5%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0011121,Abnormality of skin morphology,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0011473,Villous atrophy,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0011877,Increased mean platelet volume,Occasional (29-5%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0025085,Bloody diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0025156,Dependency on intravenous nutrition,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005258,Orphanet,84064,ORPHA:84064,52,HP:0030056,Uncombable hair,Frequent (79-30%),TAS,,,,"[PMID:20176027, PMID:23302111, PMID:29334452]",y,y +GARD:0005261,Orphanet,3361,ORPHA:3361,10,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005261,Orphanet,3361,ORPHA:3361,10,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005261,Orphanet,3361,ORPHA:3361,10,HP:0002208,Coarse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005261,Orphanet,3361,ORPHA:3361,10,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005261,Orphanet,3361,ORPHA:3361,10,HP:0002231,Sparse body hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0005261,Orphanet,3361,ORPHA:3361,10,HP:0002299,Brittle hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005261,Orphanet,3361,ORPHA:3361,10,HP:0002552,Trichodysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005261,Orphanet,3361,ORPHA:3361,10,HP:0003777,Pili torti,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005261,Orphanet,3361,ORPHA:3361,10,HP:0009886,Trichorrhexis nodosa,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005261,Orphanet,3361,ORPHA:3361,10,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005274,Orphanet,1209,ORPHA:1209,10,HP:0000961,Cyanosis,Very frequent (99-80%),TAS,,,,"[PMID:10227411, PMID:10888889, PMID:1689815]",y,y +GARD:0005274,Orphanet,1209,ORPHA:1209,10,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,"[PMID:10227411, PMID:10888889, PMID:1689815]",y,y +GARD:0005274,Orphanet,1209,ORPHA:1209,10,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:10227411, PMID:10888889, PMID:1689815]",y,y +GARD:0005274,Orphanet,1209,ORPHA:1209,10,HP:0001655,Patent foramen ovale,Frequent (79-30%),TAS,,,,"[PMID:10227411, PMID:10888889, PMID:1689815]",y,y +GARD:0005274,Orphanet,1209,ORPHA:1209,10,HP:0001669,Transposition of the great arteries,Frequent (79-30%),TAS,,,,"[PMID:10227411, PMID:10888889, PMID:1689815]",y,y +GARD:0005274,Orphanet,1209,ORPHA:1209,10,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:10227411, PMID:10888889, PMID:1689815]",y,y +GARD:0005274,Orphanet,1209,ORPHA:1209,10,HP:0004762,Hypoplasia of right ventricle,Frequent (79-30%),TAS,,,,"[PMID:10227411, PMID:10888889, PMID:1689815]",y,y +GARD:0005274,Orphanet,1209,ORPHA:1209,10,HP:0004935,Pulmonary artery atresia,Occasional (29-5%),TAS,,,,"[PMID:10227411, PMID:10888889, PMID:1689815]",y,y +GARD:0005274,Orphanet,1209,ORPHA:1209,10,HP:0005301,Persistent left superior vena cava,Frequent (79-30%),TAS,,,,"[PMID:10227411, PMID:10888889, PMID:1689815]",y,y +GARD:0005274,Orphanet,1209,ORPHA:1209,10,HP:0011662,Tricuspid atresia,Obligate (100%),TAS,,,,"[PMID:10227411, PMID:10888889, PMID:1689815]",y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000072,Hydroureter,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000239,Large fontanelles,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000243,Trigonocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000307,Pointed chin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000437,Depressed nasal tip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000588,Optic disc coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000612,Iris coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0000637,Long palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0001100,Heterochromia iridis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0001302,Pachygyria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0001339,Lissencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0002000,Short columella,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0002126,Polymicrogyria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0002300,Mutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0002381,Aphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0003189,Long nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0005487,Prominent metopic ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0007227,Macrogyria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0009942,Duplication of thumb phalanx,Occasional (29-5%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0010529,Echolalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0010935,Abnormality of the upper urinary tract,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0012157,Subcortical cerebral atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0012905,Euryblepharon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0030502,Retinoschisis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0040188,Osteochondrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0100308,Cerebral cortical hemiatrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005279,Orphanet,2995,ORPHA:2995,63,HP:0100540,Palpebral edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0000161,Median cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0000235,Abnormality of the fontanelles or cranial sutures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0000482,Microcornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0000534,Abnormal eyebrow morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0000612,Iris coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0000615,Abnormal pupil morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0000951,Abnormality of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0001601,Laryngomalacia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0002084,Encephalocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005286,Orphanet,3374,ORPHA:3374,18,HP:0100629,Midline facial cleft,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005287,Orphanet,868,ORPHA:868,7,HP:0000762,Decreased nerve conduction velocity,Occasional (29-5%),TAS,,,,,y,y +GARD:0005287,Orphanet,868,ORPHA:868,7,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005287,Orphanet,868,ORPHA:868,7,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005287,Orphanet,868,ORPHA:868,7,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005287,Orphanet,868,ORPHA:868,7,HP:0006597,Diaphragmatic paralysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005287,Orphanet,868,ORPHA:868,7,HP:0007009,Central nervous system degeneration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005287,Orphanet,868,ORPHA:868,7,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000235,Abnormality of the fontanelles or cranial sutures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0001539,Omphalocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0001732,Abnormality of the pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0004331,Decreased skull ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0005264,Abnormality of the gallbladder,Occasional (29-5%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0008056,Aplasia/Hypoplasia affecting the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005295,Orphanet,3376,ORPHA:3376,34,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000143,Rectovaginal fistula,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000159,Abnormal lip morphology,Frequent (79-30%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000366,Abnormality of the nose,Frequent (79-30%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000598,Abnormality of the ear,Frequent (79-30%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0001384,Abnormal hip joint morphology,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0002266,Focal clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0002275,Poor motor coordination,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0002937,Hemivertebrae,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0003199,Decreased muscle mass,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0006055,Ulnar deviated club hands,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0006958,Abnormal auditory evoked potentials,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0009600,Flexion contracture of thumb,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0009879,Simplified gyral pattern,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0010537,Wide cranial sutures,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0010851,EEG with burst suppression,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0011181,Low voltage EEG,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0011193,EEG with focal spikes,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0011451,Primary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0011467,Absent gallbladder,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0012745,Short palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005299,Orphanet,171929,ORPHA:171929,63,HP:0012794,Periventricular white matter hypodensities,Occasional (29-5%),TAS,,,,"[PMID:10818221, PMID:12673647, PMID:24798351]",y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000262,Turricephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000474,Thickened nuchal skin fold,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0001176,Large hands,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0008053,Aplasia/Hypoplasia of the iris,Occasional (29-5%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005305,Orphanet,1699,ORPHA:1699,31,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005313,Orphanet,1706,ORPHA:1706,6,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005313,Orphanet,1706,ORPHA:1706,6,HP:0001155,Abnormality of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005313,Orphanet,1706,ORPHA:1706,6,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005313,Orphanet,1706,ORPHA:1706,6,HP:0002916,Abnormality of chromosome segregation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005313,Orphanet,1706,ORPHA:1706,6,HP:0004097,Deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005313,Orphanet,1706,ORPHA:1706,6,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000113,Polycystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0004383,Hypoplastic left heart,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0008661,Urethral stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0009890,High anterior hairline,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0009928,Thick nasal alae,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0010481,Urethral valve,Frequent (79-30%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0011229,Broad eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0005318,Orphanet,261290,ORPHA:261290,50,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0000377,Abnormal pinna morphology,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0000384,Preauricular skin tag,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0002021,Pyloric stenosis,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0002591,Polyphagia,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0008689,Bilateral cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005323,Orphanet,1715,ORPHA:1715,28,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:17330860, PMID:487637, PMID:5663940, PMID:7485173, PMID:8779322]",y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000053,Macroorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000069,Abnormality of the ureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000294,Low anterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0001883,Talipes,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0002208,Coarse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0002311,Incoordination,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0002414,Spina bifida,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0009738,Abnormal antihelix morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0012332,Abnormal autonomic nervous system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0100790,Hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005333,Orphanet,261318,ORPHA:261318,71,HP:0100874,Thick hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000276,Long face,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0001869,Deep plantar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0003275,Narrow pelvis bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0006191,Deep palmar crease,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0006443,Patellar aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0009738,Abnormal antihelix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005359,Orphanet,96061,ORPHA:96061,42,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0000190,Abnormal oral frenulum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0006191,Deep palmar crease,Occasional (29-5%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0010297,Bifid tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0010751,Dimple chin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0012062,Bone cyst,Occasional (29-5%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0100627,Displacement of the urethral meatus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005362,Orphanet,1752,ORPHA:1752,30,HP:0100818,Long thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0000126,Hydronephrosis,Very rare (<4-1%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001172,Abnormal thumb morphology,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001350,Slurred speech,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0002064,Spastic gait,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0002313,Spastic paraparesis,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0002495,Impaired vibratory sensation,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0003484,Upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0003693,Distal amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0005288,Abnormality of the nares,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0005922,Abnormal hand morphology,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0011094,Increased overbite,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0011448,Ankle clonus,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0025269,Panic attack,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0100518,Dysuria,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005372,Orphanet,101000,ORPHA:101000,52,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:18413476, PMID:20437587, PMID:26003402, PMID:27112432]",y,y +GARD:0005392,Orphanet,79238,ORPHA:79238,13,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,[PMID:21290786],y,y +GARD:0005392,Orphanet,79238,ORPHA:79238,13,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,[PMID:21290786],y,y +GARD:0005392,Orphanet,79238,ORPHA:79238,13,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:21290786],y,y +GARD:0005392,Orphanet,79238,ORPHA:79238,13,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,[PMID:21290786],y,y +GARD:0005392,Orphanet,79238,ORPHA:79238,13,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:21290786],y,y +GARD:0005392,Orphanet,79238,ORPHA:79238,13,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,[PMID:21290786],y,y +GARD:0005392,Orphanet,79238,ORPHA:79238,13,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,[PMID:21290786],y,y +GARD:0005392,Orphanet,79238,ORPHA:79238,13,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,[PMID:21290786],y,y +GARD:0005392,Orphanet,79238,ORPHA:79238,13,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,[PMID:21290786],y,y +GARD:0005392,Orphanet,79238,ORPHA:79238,13,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,[PMID:21290786],y,y +GARD:0005392,Orphanet,79238,ORPHA:79238,13,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,[PMID:21290786],y,y +GARD:0005392,Orphanet,79238,ORPHA:79238,13,HP:0004915,Impairment of galactose metabolism,Very frequent (99-80%),TAS,,,,[PMID:21290786],y,y +GARD:0005392,Orphanet,79238,ORPHA:79238,13,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,[PMID:21290786],y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000036,Abnormal penis morphology,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000089,Renal hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000113,Polycystic kidney dysplasia,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000269,Prominent occiput,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000773,Short ribs,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000811,Abnormal external genitalia,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000879,Short sternum,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0000883,Thin ribs,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0001195,Single umbilical artery,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0002009,Potter facies,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0002107,Pneumothorax,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0002984,Hypoplasia of the radius,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0002990,Fibular aplasia,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0003027,Mesomelia,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0003041,Humeroradial synostosis,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0003309,Ovoid thoracolumbar vertebrae,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0003561,Birth length less than 3rd percentile,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0003683,Large beaked nose,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0005792,Short humerus,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0006495,Aplasia/Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0008665,Clitoral hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0008683,Enlarged labia minora,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0008846,Severe intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0009800,Maternal diabetes,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0009829,Phocomelia,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0011341,Long upper lip,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005394,Orphanet,3404,ORPHA:3404,44,HP:0040073,Abnormal forearm bone morphology,Frequent (79-30%),TAS,,,,"[PMID:15476130, PMID:2240030, PMID:6711618]",y,y +GARD:0005395,Orphanet,3406,ORPHA:3406,14,HP:0000290,Abnormality of the forehead,Frequent (79-30%),TAS,,,,"[PMID:21658329, PMID:34630685]",y,y +GARD:0005395,Orphanet,3406,ORPHA:3406,14,HP:0000306,Abnormality of the chin,Frequent (79-30%),TAS,,,,"[PMID:21658329, PMID:34630685]",y,y +GARD:0005395,Orphanet,3406,ORPHA:3406,14,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:21658329, PMID:34630685]",y,y +GARD:0005395,Orphanet,3406,ORPHA:3406,14,HP:0001041,Facial erythema,Very frequent (99-80%),TAS,,,,"[PMID:21658329, PMID:34630685]",y,y +GARD:0005395,Orphanet,3406,ORPHA:3406,14,HP:0001061,Acne,Occasional (29-5%),TAS,,,,"[PMID:21658329, PMID:34630685]",y,y +GARD:0005395,Orphanet,3406,ORPHA:3406,14,HP:0004334,Dermal atrophy,Frequent (79-30%),TAS,,,,"[PMID:21658329, PMID:34630685]",y,y +GARD:0005395,Orphanet,3406,ORPHA:3406,14,HP:0004426,Abnormality of the cheek,Frequent (79-30%),TAS,,,,"[PMID:21658329, PMID:34630685]",y,y +GARD:0005395,Orphanet,3406,ORPHA:3406,14,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,"[PMID:21658329, PMID:34630685]",y,y +GARD:0005395,Orphanet,3406,ORPHA:3406,14,HP:0005338,Sparse lateral eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:21658329, PMID:34630685]",y,y +GARD:0005395,Orphanet,3406,ORPHA:3406,14,HP:0007502,Follicular hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:21658329, PMID:34630685]",y,y +GARD:0005395,Orphanet,3406,ORPHA:3406,14,HP:0030350,Erythematous papule,Very frequent (99-80%),TAS,,,,"[PMID:21658329, PMID:34630685]",y,y +GARD:0005395,Orphanet,3406,ORPHA:3406,14,HP:0032152,Keratosis pilaris,Very frequent (99-80%),TAS,,,,"[PMID:21658329, PMID:34630685]",y,y +GARD:0005395,Orphanet,3406,ORPHA:3406,14,HP:0032282,Contact dermatitis,Occasional (29-5%),TAS,,,,"[PMID:21658329, PMID:34630685]",y,y +GARD:0005395,Orphanet,3406,ORPHA:3406,14,HP:0045059,Hyperkeratotic papule,Very frequent (99-80%),TAS,,,,"[PMID:21658329, PMID:34630685]",y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0000270,Delayed cranial suture closure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0001802,Absent toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0001817,Absent fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0001840,Metatarsus adductus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0001883,Talipes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0002984,Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0003022,Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0009465,Ulnar deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0010059,Broad hallux phalanx,Frequent (79-30%),TAS,,,,,y,y +GARD:0005398,Orphanet,2249,ORPHA:2249,20,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0005400,Orphanet,1122,ORPHA:1122,4,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005400,Orphanet,1122,ORPHA:1122,4,HP:0001839,Split foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0005400,Orphanet,1122,ORPHA:1122,4,HP:0003022,Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005400,Orphanet,1122,ORPHA:1122,4,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005403,Orphanet,3405,ORPHA:3405,9,HP:0001195,Single umbilical artery,Frequent (79-30%),TAS,,,,,y,y +GARD:0005403,Orphanet,3405,ORPHA:3405,9,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005403,Orphanet,3405,ORPHA:3405,9,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0005403,Orphanet,3405,ORPHA:3405,9,HP:0001679,Abnormal aortic morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005403,Orphanet,3405,ORPHA:3405,9,HP:0001702,Abnormal tricuspid valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005403,Orphanet,3405,ORPHA:3405,9,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005403,Orphanet,3405,ORPHA:3405,9,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005403,Orphanet,3405,ORPHA:3405,9,HP:0002247,Duodenal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005403,Orphanet,3405,ORPHA:3405,9,HP:0011100,Intestinal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005404,Orphanet,1410,ORPHA:1410,6,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005404,Orphanet,1410,ORPHA:1410,6,HP:0002208,Coarse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005404,Orphanet,1410,ORPHA:1410,6,HP:0002224,Woolly hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005404,Orphanet,1410,ORPHA:1410,6,HP:0002232,Patchy alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005404,Orphanet,1410,ORPHA:1410,6,HP:0002552,Trichodysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005404,Orphanet,1410,ORPHA:1410,6,HP:0011364,White hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000316,Hypertelorism,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000369,Low-set ears,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000465,Webbed neck,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000494,Downslanted palpebral fissures,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000610,Abnormal choroid morphology,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000735,Impaired social interactions,Very frequent (99-80%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000736,Short attention span,Very frequent (99-80%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000925,Abnormality of the vertebral column,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000935,Thickened cortex of long bones,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001034,Hypermelanotic macule,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001271,Polyneuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001480,Freckling,Very frequent (99-80%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001833,Long foot,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001909,Leukemia,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001920,Renal artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0002088,Abnormal lung morphology,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0002463,Language impairment,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0002666,Pheochromocytoma,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0002859,Rhabdomyosarcoma,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0002863,Myelodysplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0002979,Bowing of the legs,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0003001,Glomus jugular tumor,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0003002,Breast carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0003165,Elevated circulating parathyroid hormone level,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0004562,Beaking of vertebral bodies T12-L3,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0004944,Dilatation of the cerebral artery,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0005280,Depressed nasal bridge,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0006610,Wide intermamillary distance,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0007236,Recurrent subcortical infarcts,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0007524,Atypical neurofibromatosis,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0007565,Multiple cafe-au-lait spots,Very frequent (99-80%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0007850,Retinal vascular proliferation,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0009732,Plexiform neurofibroma,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0009733,Glioma,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0009734,Optic nerve glioma,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0009737,Lisch nodules,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0010795,Cerebellar glioma,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0010796,Brainstem glioma,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0011442,Abnormal central motor function,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0012492,Cerebral artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0025105,Nevus anemicus,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0030692,Brain neoplasm,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0031023,Multiple mucosal neuromas,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0032458,Narrowing of medullary canal,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0100008,Schwannoma,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0100252,Diaphyseal dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0100697,Neurofibrosarcoma,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0100723,Gastrointestinal stroma tumor,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0100775,Dural ectasia,Very rare (<4-1%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0100817,Renovascular hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0200034,Papule,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:0430022,Abnormality of the sphenoid sinus,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005408,Orphanet,97685,ORPHA:97685,94,HP:3000062,Abnormal internal carotid artery morphology,Occasional (29-5%),TAS,,,,"[PMID:20301288, PMID:30564341]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000260,Wide anterior fontanel,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000327,Hypoplasia of the maxilla,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000773,Short ribs,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000882,Hypoplastic scapulae,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000884,Prominent sternum,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000890,Long clavicles,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000907,Anterior rib cupping,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000919,Abnormality of the costochondral junction,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000946,Hypoplastic ilia,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0000973,Cutis laxa,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001220,Interphalangeal joint contracture of finger,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001339,Lissencephaly,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001511,Intrauterine growth retardation,Very rare (<4-1%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001520,Large for gestational age,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001538,Protuberant abdomen,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001540,Diastasis recti,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001548,Overgrowth,Very rare (<4-1%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001615,Hoarse cry,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001792,Small nail,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001840,Metatarsus adductus,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002002,Deep philtrum,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002057,Prominent glabella,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002557,Hypoplastic nipples,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002645,Wormian bones,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002673,Coxa valga,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002694,Sclerosis of skull base,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002866,Hypoplastic iliac wing,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002884,Hepatoblastoma,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002937,Hemivertebrae,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0002982,Tibial bowing,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0003049,Ulnar deviation of the wrist,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0003241,External genital hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0004299,Hernia of the abdominal wall,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0004415,Pulmonary artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0005054,Metaphyseal spurs,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0005257,Thoracic hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0005268,Miscarriage,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0005736,Short tibia,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0005989,Redundant neck skin,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0006267,Large placenta,Very frequent (99-80%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0006591,Absent glenoid fossa,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0006665,Coat hanger sign of ribs,Obligate (100%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0007685,Peripheral retinal avascularization,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0009600,Flexion contracture of thumb,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0009824,Upper limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0009826,Limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0009832,Abnormal distal phalanx morphology of finger,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0009836,Broad distal phalanx of finger,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0010034,Short 1st metacarpal,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0010301,Spinal dysraphism,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0010561,Undulate ribs,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0010655,Epiphyseal stippling,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0010804,Tented upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0011335,Frontal hirsutism,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0011343,Moderate global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0011823,Chin with horizontal crease,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0011824,Chin with H-shaped crease,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0012284,Small proximal tibial epiphyses,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0012303,Abnormal aortic arch morphology,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0012428,Prominent calcaneus,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0040024,Clinodactyly of the 3rd finger,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005409,Orphanet,96334,ORPHA:96334,120,HP:0100864,Short femoral neck,Occasional (29-5%),TAS,,,,"[PMID:17702046, PMID:26377239]",y,y +GARD:0005421,Orphanet,3408,ORPHA:3408,6,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,[PMID:5316541],y,y +GARD:0005421,Orphanet,3408,ORPHA:3408,6,HP:0003365,Arthralgia of the hip,Frequent (79-30%),TAS,,,,[PMID:5316541],y,y +GARD:0005421,Orphanet,3408,ORPHA:3408,6,HP:0003370,Flat capital femoral epiphysis,Frequent (79-30%),TAS,,,,[PMID:5316541],y,y +GARD:0005421,Orphanet,3408,ORPHA:3408,6,HP:0006429,Broad femoral neck,Frequent (79-30%),TAS,,,,[PMID:5316541],y,y +GARD:0005421,Orphanet,3408,ORPHA:3408,6,HP:0010588,Premature epimetaphyseal fusion,Frequent (79-30%),TAS,,,,[PMID:5316541],y,y +GARD:0005421,Orphanet,3408,ORPHA:3408,6,HP:0030038,Enchondroma,Frequent (79-30%),TAS,,,,[PMID:5316541],y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0002586,Peritonitis,Very rare (<4-1%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0002664,Neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0010766,Ectopic calcification,Very rare (<4-1%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0010783,Erythema,Very rare (<4-1%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0011227,Elevated circulating C-reactive protein concentration,Occasional (29-5%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0012085,Pyuria,Occasional (29-5%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0025615,Abscess,Occasional (29-5%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0031500,Abdominal mass,Very rare (<4-1%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0032169,Severe infection,Occasional (29-5%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0100518,Dysuria,Occasional (29-5%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005425,Orphanet,488,ORPHA:488,16,HP:0100525,Urachus fistula,Occasional (29-5%),TAS,,,,"[PMID:30271532, PMID:32347613, PMID:33039342]",y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0000069,Abnormality of the ureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0000288,Abnormality of the philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0000940,Abnormal diaphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0003212,Increased circulating IgE level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0005830,Flexion contracture of toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0009906,Aplasia/Hypoplasia of the earlobes,Occasional (29-5%),TAS,,,,,y,y +GARD:0005426,Orphanet,3409,ORPHA:3409,28,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0000008,Abnormal morphology of female internal genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0000014,Abnormality of the bladder,Frequent (79-30%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0000221,Furrowed tongue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0001131,Corneal dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0002206,Pulmonary fibrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0002575,Tracheoesophageal fistula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005427,Orphanet,1839,ORPHA:1839,18,HP:0012732,Anorectal anomaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0000069,Abnormality of the ureter,Frequent (79-30%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0003218,Oroticaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0003526,Orotic acid crystalluria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0005435,Impaired T cell function,Frequent (79-30%),TAS,,,,,y,y +GARD:0005429,Orphanet,30,ORPHA:30,16,HP:0008388,Abnormal toenail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000023,Inguinal hernia,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000126,Hydronephrosis,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000130,Abnormality of the uterus,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000148,Vaginal atresia,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0000998,Hypertrichosis,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0001090,Abnormally large globe,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0001399,Hepatic failure,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0001433,Hepatosplenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0001541,Ascites,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0002243,Protein-losing enteropathy,Frequent (79-30%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0003075,Hypoproteinemia,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0005469,Flat occiput,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0005989,Redundant neck skin,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0006273,Pancreatic lymphangiectasis,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0006521,Pulmonary lymphangiectasia,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0009085,Alveolar ridge overgrowth,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0011027,Abnormal fallopian tube morphology,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005430,Orphanet,1655,ORPHA:1655,41,HP:0012210,Abnormal renal morphology,Very frequent (99-80%),TAS,,,,"[PMID:11746030, PMID:11746031, PMID:8256813]",y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0000375,Abnormal cochlea morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0000575,Scotoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0000662,Nyctalopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0000716,Depression,Occasional (29-5%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0001756,Vestibular hypofunction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0008499,High hypermetropia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0012157,Subcortical cerebral atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0012377,Hemianopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005435,Orphanet,231169,ORPHA:231169,22,HP:0100753,Schizophrenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000359,Abnormality of the inner ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000575,Scotoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000662,Nyctalopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000716,Depression,Occasional (29-5%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0011073,Abnormality of dental color,Occasional (29-5%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0012157,Subcortical cerebral atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0012377,Hemianopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005440,Orphanet,231178,ORPHA:231178,23,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0000375,Abnormal cochlea morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0000483,Astigmatism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0000575,Scotoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0000662,Nyctalopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0000716,Depression,Occasional (29-5%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0001756,Vestibular hypofunction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0008499,High hypermetropia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0012377,Hemianopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005442,Orphanet,231183,ORPHA:231183,17,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000008,Abnormal morphology of female internal genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000086,Ectopic kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000104,Renal agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000239,Large fontanelles,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0000795,Abnormality of the urethra,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0001048,Cavernous hemangioma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0001195,Single umbilical artery,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0001601,Laryngomalacia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0001732,Abnormality of the pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0002023,Anal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0002085,Occipital encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0002323,Anencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0002575,Tracheoesophageal fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0002777,Tracheal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0005107,Abnormal sacrum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0005108,Abnormal intervertebral disk morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0005264,Abnormality of the gallbladder,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0006501,Aplasia/Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0012732,Anorectal anomaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005443,Orphanet,887,ORPHA:887,41,HP:0100335,Non-midline cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0005445,Orphanet,3109,ORPHA:3109,10,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0005445,Orphanet,3109,ORPHA:3109,10,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0005445,Orphanet,3109,ORPHA:3109,10,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0005445,Orphanet,3109,ORPHA:3109,10,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005445,Orphanet,3109,ORPHA:3109,10,HP:0000151,Aplasia of the uterus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005445,Orphanet,3109,ORPHA:3109,10,HP:0002948,Vertebral fusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0005445,Orphanet,3109,ORPHA:3109,10,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0005445,Orphanet,3109,ORPHA:3109,10,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0005445,Orphanet,3109,ORPHA:3109,10,HP:0005107,Abnormal sacrum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005445,Orphanet,3109,ORPHA:3109,10,HP:0008726,Hypoplasia of the vagina,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005447,Orphanet,1906,ORPHA:1906,8,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005447,Orphanet,1906,ORPHA:1906,8,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005447,Orphanet,1906,ORPHA:1906,8,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005447,Orphanet,1906,ORPHA:1906,8,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005447,Orphanet,1906,ORPHA:1906,8,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005447,Orphanet,1906,ORPHA:1906,8,HP:0001539,Omphalocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005447,Orphanet,1906,ORPHA:1906,8,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005447,Orphanet,1906,ORPHA:1906,8,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005453,Orphanet,3417,ORPHA:3417,12,HP:0000512,Abnormal electroretinogram,Frequent (79-30%),TAS,,,,[DOI:10.1159/000303582],y,y +GARD:0005453,Orphanet,3417,ORPHA:3417,12,HP:0000666,Horizontal nystagmus,Frequent (79-30%),TAS,,,,[DOI:10.1159/000303582],y,y +GARD:0005453,Orphanet,3417,ORPHA:3417,12,HP:0001139,Choroideremia,Frequent (79-30%),TAS,,,,[DOI:10.1159/000303582],y,y +GARD:0005453,Orphanet,3417,ORPHA:3417,12,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[DOI:10.1159/000303582],y,y +GARD:0005453,Orphanet,3417,ORPHA:3417,12,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,[DOI:10.1159/000303582],y,y +GARD:0005453,Orphanet,3417,ORPHA:3417,12,HP:0002046,Heat intolerance,Frequent (79-30%),TAS,,,,[DOI:10.1159/000303582],y,y +GARD:0005453,Orphanet,3417,ORPHA:3417,12,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,[DOI:10.1159/000303582],y,y +GARD:0005453,Orphanet,3417,ORPHA:3417,12,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,[DOI:10.1159/000303582],y,y +GARD:0005453,Orphanet,3417,ORPHA:3417,12,HP:0007476,Anhidrotic ectodermal dysplasia,Frequent (79-30%),TAS,,,,[DOI:10.1159/000303582],y,y +GARD:0005453,Orphanet,3417,ORPHA:3417,12,HP:0011003,High myopia,Frequent (79-30%),TAS,,,,[DOI:10.1159/000303582],y,y +GARD:0005453,Orphanet,3417,ORPHA:3417,12,HP:0030203,Unfavorable response of muscle weakness to acetylcholine esterase inhibitors,Frequent (79-30%),TAS,,,,[DOI:10.1159/000303582],y,y +GARD:0005453,Orphanet,3417,ORPHA:3417,12,HP:0200016,Acrokeratosis,Frequent (79-30%),TAS,,,,[DOI:10.1159/000303582],y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0000089,Renal hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0000239,Large fontanelles,Frequent (79-30%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0000327,Hypoplasia of the maxilla,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0001159,Syndactyly,Frequent (79-30%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0001545,Anteriorly placed anus,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0002025,Anal stenosis,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0002282,Gray matter heterotopia,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0002778,Abnormal tracheal morphology,Frequent (79-30%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0002779,Tracheomalacia,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0002825,Caudal appendage,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0006989,Dysplastic corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0008197,Absence of pubertal development,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0011471,Gastrostomy tube feeding in infancy,Frequent (79-30%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0012385,Camptodactyly,Very frequent (99-80%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0040079,Irregular dentition,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005456,Orphanet,314679,ORPHA:314679,44,HP:0200138,Bilateral choanal atresia/stenosis,Occasional (29-5%),TAS,,,,"[PMID:22473091, PMID:29681106]",y,y +GARD:0005461,Orphanet,48,ORPHA:48,5,HP:0000798,Oligospermia,Occasional (29-5%),TAS,,,,"[PMID:24286764, PMID:5656994, PMID:7739684, PMID:7823702, PMID:7968122, PMID:8697849, PMID:8916686, PMID:9302172]",y,y +GARD:0005461,Orphanet,48,ORPHA:48,5,HP:0003251,Male infertility,Very frequent (99-80%),TAS,,,,"[PMID:24286764, PMID:5656994, PMID:7739684, PMID:7823702, PMID:7968122, PMID:8697849, PMID:8916686, PMID:9302172]",y,y +GARD:0005461,Orphanet,48,ORPHA:48,5,HP:0011962,Obstructive azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:24286764, PMID:5656994, PMID:7739684, PMID:7823702, PMID:7968122, PMID:8697849, PMID:8916686, PMID:9302172]",y,y +GARD:0005461,Orphanet,48,ORPHA:48,5,HP:0012210,Abnormal renal morphology,Occasional (29-5%),TAS,,,,"[PMID:24286764, PMID:5656994, PMID:7739684, PMID:7823702, PMID:7968122, PMID:8697849, PMID:8916686, PMID:9302172]",y,y +GARD:0005461,Orphanet,48,ORPHA:48,5,HP:0012873,Absent vas deferens,Very frequent (99-80%),TAS,,,,"[PMID:24286764, PMID:5656994, PMID:7739684, PMID:7823702, PMID:7968122, PMID:8697849, PMID:8916686, PMID:9302172]",y,y +GARD:0005467,Orphanet,1053,ORPHA:1053,3,HP:0002617,Vascular dilatation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005467,Orphanet,1053,ORPHA:1053,3,HP:0100659,Abnormal cerebral vascular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005467,Orphanet,1053,ORPHA:1053,3,HP:0100784,Peripheral arteriovenous fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0000474,Thickened nuchal skin fold,Frequent (79-30%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0001172,Abnormal thumb morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0001176,Large hands,Frequent (79-30%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0001212,Prominent fingertip pads,Frequent (79-30%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005469,Orphanet,3424,ORPHA:3424,18,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005470,Orphanet,2291,ORPHA:2291,5,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005470,Orphanet,2291,ORPHA:2291,5,HP:0000220,Velopharyngeal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005470,Orphanet,2291,ORPHA:2291,5,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005470,Orphanet,2291,ORPHA:2291,5,HP:0000600,Abnormality of the pharynx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005470,Orphanet,2291,ORPHA:2291,5,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0000162,Glossoptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0000176,Submucous cleft hard palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0000277,Abnormal mandible morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0000294,Low anterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0001831,Short toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0004408,Abnormality of the sense of smell,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0010044,Short 4th metacarpal,Occasional (29-5%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0010185,Aplasia/Hypoplasia of the distal phalanges of the toes,Frequent (79-30%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005472,Orphanet,3201,ORPHA:3201,19,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0000961,Cyanosis,Very frequent (99-80%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0001633,Abnormal mitral valve morphology,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0001641,Abnormal pulmonary valve morphology,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0001649,Tachycardia,Very frequent (99-80%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0001667,Right ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0001693,Cardiac shunt,Very frequent (99-80%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0006704,Abnormal coronary artery morphology,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0009800,Maternal diabetes,Very rare (<4-1%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0010772,Anomalous pulmonary venous return,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0011028,Abnormality of blood circulation,Very frequent (99-80%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0011438,Maternal teratogenic exposure,Very rare (<4-1%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0011563,Abnormal ventriculoarterial connection,Very frequent (99-80%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0011611,Interrupted aortic arch,Occasional (29-5%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0012303,Abnormal aortic arch morphology,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0012304,Hypoplastic aortic arch,Occasional (29-5%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0012418,Hypoxemia,Very frequent (99-80%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0025074,Abnormal QRS complex,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0030148,Heart murmur,Very frequent (99-80%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0031348,Dextrotransposition of the great arteries,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0031349,Levotransposition of the great arteries,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0032092,Left ventricular outflow tract obstruction,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005476,Orphanet,860,ORPHA:860,33,HP:0200128,Biventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:18851735, PMID:24890983, PMID:27296724]",y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0000828,Abnormality of the parathyroid gland,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0002823,Abnormality of femur morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0008368,Tarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0009826,Limb undergrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0100335,Non-midline cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005482,Orphanet,3429,ORPHA:3429,18,HP:0100542,Abnormal localization of kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0005488,Orphanet,178382,ORPHA:178382,13,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:19963176, PMID:26337950, PMID:34752243]",y,y +GARD:0005488,Orphanet,178382,ORPHA:178382,13,HP:0001436,Abnormality of the foot musculature,Very frequent (99-80%),TAS,,,,"[PMID:19963176, PMID:26337950, PMID:34752243]",y,y +GARD:0005488,Orphanet,178382,ORPHA:178382,13,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:19963176, PMID:26337950, PMID:34752243]",y,y +GARD:0005488,Orphanet,178382,ORPHA:178382,13,HP:0001771,Achilles tendon contracture,Very frequent (99-80%),TAS,,,,"[PMID:19963176, PMID:26337950, PMID:34752243]",y,y +GARD:0005488,Orphanet,178382,ORPHA:178382,13,HP:0001838,Rocker bottom foot,Very frequent (99-80%),TAS,,,,"[PMID:19963176, PMID:26337950, PMID:34752243]",y,y +GARD:0005488,Orphanet,178382,ORPHA:178382,13,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,"[PMID:19963176, PMID:26337950, PMID:34752243]",y,y +GARD:0005488,Orphanet,178382,ORPHA:178382,13,HP:0005684,Distal arthrogryposis,Frequent (79-30%),TAS,,,,"[PMID:19963176, PMID:26337950, PMID:34752243]",y,y +GARD:0005488,Orphanet,178382,ORPHA:178382,13,HP:0008081,Pes valgus,Very frequent (99-80%),TAS,,,,"[PMID:19963176, PMID:26337950, PMID:34752243]",y,y +GARD:0005488,Orphanet,178382,ORPHA:178382,13,HP:0008138,Equinus calcaneus,Obligate (100%),TAS,,,,"[PMID:19963176, PMID:26337950, PMID:34752243]",y,y +GARD:0005488,Orphanet,178382,ORPHA:178382,13,HP:0025238,Foot pain,Frequent (79-30%),TAS,,,,"[PMID:19963176, PMID:26337950, PMID:34752243]",y,y +GARD:0005488,Orphanet,178382,ORPHA:178382,13,HP:0030268,Hyperplastic callus formation,Occasional (29-5%),TAS,,,,"[PMID:19963176, PMID:26337950, PMID:34752243]",y,y +GARD:0005488,Orphanet,178382,ORPHA:178382,13,HP:0030311,Lower extremity joint dislocation,Very frequent (99-80%),TAS,,,,"[PMID:19963176, PMID:26337950, PMID:34752243]",y,y +GARD:0005488,Orphanet,178382,ORPHA:178382,13,HP:0030840,Ankle pain,Occasional (29-5%),TAS,,,,"[PMID:19963176, PMID:26337950, PMID:34752243]",y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0002187,"Intellectual disability, profound",Very frequent (99-80%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0002362,Shuffling gait,Very frequent (99-80%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0003199,Decreased muscle mass,Very frequent (99-80%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0003413,Atlantoaxial abnormality,Frequent (79-30%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0005469,Flat occiput,Very frequent (99-80%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0005620,Hypermobility of interphalangeal joints,Frequent (79-30%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0010055,Broad hallux,Frequent (79-30%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,[PMID:1884519],y,y +GARD:0005490,Orphanet,3433,ORPHA:3433,19,HP:0012811,Wide nasal ridge,Frequent (79-30%),TAS,,,,[PMID:1884519],y,y +GARD:0005496,Orphanet,1876,ORPHA:1876,13,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005496,Orphanet,1876,ORPHA:1876,13,HP:0000544,External ophthalmoplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005496,Orphanet,1876,ORPHA:1876,13,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005496,Orphanet,1876,ORPHA:1876,13,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005496,Orphanet,1876,ORPHA:1876,13,HP:0002578,Gastroparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005496,Orphanet,1876,ORPHA:1876,13,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005496,Orphanet,1876,ORPHA:1876,13,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005496,Orphanet,1876,ORPHA:1876,13,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005496,Orphanet,1876,ORPHA:1876,13,HP:0004295,Abnormal gastric mucosa morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005496,Orphanet,1876,ORPHA:1876,13,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005496,Orphanet,1876,ORPHA:1876,13,HP:0004389,Intestinal pseudo-obstruction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005496,Orphanet,1876,ORPHA:1876,13,HP:0005203,Spontaneous esophageal perforation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005496,Orphanet,1876,ORPHA:1876,13,HP:0011024,Abnormality of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0000256,Macrocephaly,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001254,Lethargy,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001513,Obesity,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001545,Anteriorly placed anus,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001644,Dilated cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001649,Tachycardia,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001657,Prolonged QT interval,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001663,Ventricular fibrillation,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001678,Atrioventricular block,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001698,Pericardial effusion,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001942,Metabolic acidosis,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001985,Hypoketotic hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0001987,Hyperammonemia,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0002013,Vomiting,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0002045,Hypothermia,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0002090,Pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0002280,Enlarged cisterna magna,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0002789,Tachypnea,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0002876,Episodic tachypnea,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0002901,Hypocalcemia,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0003075,Hypoproteinemia,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0003394,Muscle spasm,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0004756,Ventricular tachycardia,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0008947,Infantile muscular hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0009045,Exercise-induced rhabdomyolysis,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0011123,Inflammatory abnormality of the skin,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0012531,Pain,Very rare (<4-1%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0025502,Overweight,Occasional (29-5%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005508,Orphanet,26793,ORPHA:26793,40,HP:0030781,Increased circulating free fatty acid level,Frequent (79-30%),TAS,,,,"[PMID:20301763, PMID:27209629, PMID:27246109, PMID:31031081]",y,y +GARD:0005509,Orphanet,2808,ORPHA:2808,2,HP:0001601,Laryngomalacia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005509,Orphanet,2808,ORPHA:2808,2,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0005513,Orphanet,2578,ORPHA:2578,12,HP:0000027,Azoospermia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005513,Orphanet,2578,ORPHA:2578,12,HP:0000086,Ectopic kidney,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005513,Orphanet,2578,ORPHA:2578,12,HP:0000104,Renal agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005513,Orphanet,2578,ORPHA:2578,12,HP:0000110,Renal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005513,Orphanet,2578,ORPHA:2578,12,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005513,Orphanet,2578,ORPHA:2578,12,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005513,Orphanet,2578,ORPHA:2578,12,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005513,Orphanet,2578,ORPHA:2578,12,HP:0000813,Bicornuate uterus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005513,Orphanet,2578,ORPHA:2578,12,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005513,Orphanet,2578,ORPHA:2578,12,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0005513,Orphanet,2578,ORPHA:2578,12,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005513,Orphanet,2578,ORPHA:2578,12,HP:0008684,Aplasia/hypoplasia of the uterus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000912,Sprengel anomaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0002937,Hemivertebrae,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005518,Orphanet,2180,ORPHA:2180,29,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000204,Cleft upper lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000632,Lacrimation abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0000912,Sprengel anomaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0001100,Heterochromia iridis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0001595,Abnormal hair morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0002211,White forelock,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0002216,Premature graying of hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0002226,White eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0002227,White eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0008527,Congenital sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0011364,White hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005519,Orphanet,894,ORPHA:894,32,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005520,Orphanet,895,ORPHA:895,12,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0005520,Orphanet,895,ORPHA:895,12,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005520,Orphanet,895,ORPHA:895,12,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005520,Orphanet,895,ORPHA:895,12,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005520,Orphanet,895,ORPHA:895,12,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005520,Orphanet,895,ORPHA:895,12,HP:0001053,Hypopigmented skin patches,Frequent (79-30%),TAS,,,,,y,y +GARD:0005520,Orphanet,895,ORPHA:895,12,HP:0001100,Heterochromia iridis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005520,Orphanet,895,ORPHA:895,12,HP:0002211,White forelock,Frequent (79-30%),TAS,,,,,y,y +GARD:0005520,Orphanet,895,ORPHA:895,12,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005520,Orphanet,895,ORPHA:895,12,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0005520,Orphanet,895,ORPHA:895,12,HP:0004414,Abnormality of the pulmonary artery,Occasional (29-5%),TAS,,,,,y,y +GARD:0005520,Orphanet,895,ORPHA:895,12,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0000446,Narrow nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0001063,Acrocyanosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0001167,Abnormality of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0001258,Spastic paraplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0002779,Tracheomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0002817,Abnormality of the upper limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0010554,Cutaneous finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0010804,Tented upper lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0011364,White hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0005523,Orphanet,896,ORPHA:896,22,HP:0100750,Atelectasis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0000366,Abnormality of the nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0000534,Abnormal eyebrow morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0001103,Abnormal macular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0001341,Olfactory lobe agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0002211,White forelock,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0002226,White eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0002227,White eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0002242,Abnormal intestine morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0002251,Aganglionic megacolon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0005214,Intestinal obstruction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005524,Orphanet,897,ORPHA:897,23,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000130,Abnormality of the uterus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000142,Abnormal vagina morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000153,Abnormality of the mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000159,Abnormal lip morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000534,Abnormal eyebrow morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000632,Lacrimation abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0001100,Heterochromia iridis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0002211,White forelock,Frequent (79-30%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0005525,Orphanet,3440,ORPHA:3440,30,HP:0100811,Aplasia/Hypoplasia of the colon,Occasional (29-5%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0000364,Hearing abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0007299,Dysfunction of lateral corticospinal tracts,Occasional (29-5%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0008053,Aplasia/Hypoplasia of the iris,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005528,Orphanet,893,ORPHA:893,18,HP:0100627,Displacement of the urethral meatus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005530,Orphanet,1068,ORPHA:1068,5,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005530,Orphanet,1068,ORPHA:1068,5,HP:0000526,Aniridia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005530,Orphanet,1068,ORPHA:1068,5,HP:0000609,Optic nerve hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005530,Orphanet,1068,ORPHA:1068,5,HP:0001083,Ectopia lentis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005530,Orphanet,1068,ORPHA:1068,5,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005532,Orphanet,1453,ORPHA:1453,7,HP:0000889,Abnormal clavicle morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005532,Orphanet,1453,ORPHA:1453,7,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005532,Orphanet,1453,ORPHA:1453,7,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005532,Orphanet,1453,ORPHA:1453,7,HP:0004220,Short middle phalanx of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005532,Orphanet,1453,ORPHA:1453,7,HP:0005019,Diaphyseal thickening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005532,Orphanet,1453,ORPHA:1453,7,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0005532,Orphanet,1453,ORPHA:1453,7,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000060,Clitoral hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000064,Hypoplastic labia minora,Frequent (79-30%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000480,Retinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000482,Microcornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000649,Abnormality of visual evoked potentials,Frequent (79-30%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0001302,Pachygyria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0001339,Lissencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0005534,Orphanet,2510,ORPHA:2510,42,HP:0100704,Cerebral visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0000679,Taurodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0001480,Freckling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0001572,Macrodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0007565,Multiple cafe-au-lait spots,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0008499,High hypermetropia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0011483,Anterior synechiae of the anterior chamber,Frequent (79-30%),TAS,,,,,y,y +GARD:0005535,Orphanet,3214,ORPHA:3214,22,HP:0200007,Abnormal size of the palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0000161,Median cleft lip,Frequent (79-30%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0000456,Bifid nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0000501,Glaucoma,Very rare (<4-1%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0001762,Talipes equinovarus,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0001841,Preaxial foot polydactyly,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0002056,Abnormality of the glabella,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0002084,Encephalocele,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0002190,Choroid plexus cyst,Frequent (79-30%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0002435,Meningocele,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0002690,Large sella turcica,Occasional (29-5%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0002781,Upper airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0003065,Patellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0005772,Aplasia/Hypoplasia of the tibia,Occasional (29-5%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0006866,Midline central nervous system lipomas,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0006951,Retrocerebellar cyst,Occasional (29-5%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0009099,Median cleft palate,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0009928,Thick nasal alae,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0010627,Anterior pituitary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0011803,Bifid nose,Very frequent (99-80%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0025247,Dermoid cyst,Very rare (<4-1%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0040075,Hypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005539,Orphanet,1827,ORPHA:1827,37,HP:0040326,Hypoplasia of the olfactory bulb,Frequent (79-30%),TAS,,,,"[PMID:1733166, PMID:25105228, PMID:26706854]",y,y +GARD:0005545,Orphanet,3448,ORPHA:3448,7,HP:0000160,Narrow mouth,Obligate (100%),TAS,,,,[PMID:890101],y,y +GARD:0005545,Orphanet,3448,ORPHA:3448,7,HP:0000175,Cleft palate,Obligate (100%),TAS,,,,[PMID:890101],y,y +GARD:0005545,Orphanet,3448,ORPHA:3448,7,HP:0000252,Microcephaly,Obligate (100%),TAS,,,,[PMID:890101],y,y +GARD:0005545,Orphanet,3448,ORPHA:3448,7,HP:0000411,Protruding ear,Obligate (100%),TAS,,,,[PMID:890101],y,y +GARD:0005545,Orphanet,3448,ORPHA:3448,7,HP:0002342,"Intellectual disability, moderate",Obligate (100%),TAS,,,,[PMID:890101],y,y +GARD:0005545,Orphanet,3448,ORPHA:3448,7,HP:0004325,Decreased body weight,Obligate (100%),TAS,,,,[PMID:890101],y,y +GARD:0005545,Orphanet,3448,ORPHA:3448,7,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,[PMID:890101],y,y +GARD:0005552,Orphanet,603,ORPHA:603,13,HP:0001638,Cardiomyopathy,Excluded (0%),TAS,,,,"[PMID:10482271, PMID:23348830, PMID:23401021]",y,y +GARD:0005552,Orphanet,603,ORPHA:603,13,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:10482271, PMID:23348830, PMID:23401021]",y,y +GARD:0005552,Orphanet,603,ORPHA:603,13,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:10482271, PMID:23348830, PMID:23401021]",y,y +GARD:0005552,Orphanet,603,ORPHA:603,13,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,"[PMID:10482271, PMID:23348830, PMID:23401021]",y,y +GARD:0005552,Orphanet,603,ORPHA:603,13,HP:0003376,Steppage gait,Frequent (79-30%),TAS,,,,"[PMID:10482271, PMID:23348830, PMID:23401021]",y,y +GARD:0005552,Orphanet,603,ORPHA:603,13,HP:0003458,EMG: myopathic abnormalities,Very frequent (99-80%),TAS,,,,"[PMID:10482271, PMID:23348830, PMID:23401021]",y,y +GARD:0005552,Orphanet,603,ORPHA:603,13,HP:0003805,Rimmed vacuoles,Frequent (79-30%),TAS,,,,"[PMID:10482271, PMID:23348830, PMID:23401021]",y,y +GARD:0005552,Orphanet,603,ORPHA:603,13,HP:0007149,Distal upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:10482271, PMID:23348830, PMID:23401021]",y,y +GARD:0005552,Orphanet,603,ORPHA:603,13,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:10482271, PMID:23348830, PMID:23401021]",y,y +GARD:0005552,Orphanet,603,ORPHA:603,13,HP:0008954,Intrinsic hand muscle atrophy,Very frequent (99-80%),TAS,,,,"[PMID:10482271, PMID:23348830, PMID:23401021]",y,y +GARD:0005552,Orphanet,603,ORPHA:603,13,HP:0008959,Distal upper limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:10482271, PMID:23348830, PMID:23401021]",y,y +GARD:0005552,Orphanet,603,ORPHA:603,13,HP:0009027,Foot dorsiflexor weakness,Very frequent (99-80%),TAS,,,,"[PMID:10482271, PMID:23348830, PMID:23401021]",y,y +GARD:0005552,Orphanet,603,ORPHA:603,13,HP:0009077,Weakness of long finger extensor muscles,Very frequent (99-80%),TAS,,,,"[PMID:10482271, PMID:23348830, PMID:23401021]",y,y +GARD:0005554,Orphanet,1373,ORPHA:1373,10,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005554,Orphanet,1373,ORPHA:1373,10,HP:0000191,Accessory oral frenulum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005554,Orphanet,1373,ORPHA:1373,10,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005554,Orphanet,1373,ORPHA:1373,10,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0005554,Orphanet,1373,ORPHA:1373,10,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005554,Orphanet,1373,ORPHA:1373,10,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0005554,Orphanet,1373,ORPHA:1373,10,HP:0001048,Cavernous hemangioma,Frequent (79-30%),TAS,,,,,y,y +GARD:0005554,Orphanet,1373,ORPHA:1373,10,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005554,Orphanet,1373,ORPHA:1373,10,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005554,Orphanet,1373,ORPHA:1373,10,HP:0008499,High hypermetropia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005555,Orphanet,2815,ORPHA:2815,13,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005555,Orphanet,2815,ORPHA:2815,13,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005555,Orphanet,2815,ORPHA:2815,13,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005555,Orphanet,2815,ORPHA:2815,13,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0005555,Orphanet,2815,ORPHA:2815,13,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005555,Orphanet,2815,ORPHA:2815,13,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005555,Orphanet,2815,ORPHA:2815,13,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005555,Orphanet,2815,ORPHA:2815,13,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005555,Orphanet,2815,ORPHA:2815,13,HP:0002313,Spastic paraparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005555,Orphanet,2815,ORPHA:2815,13,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005555,Orphanet,2815,ORPHA:2815,13,HP:0004374,Hemiplegia/hemiparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005555,Orphanet,2815,ORPHA:2815,13,HP:0007328,Impaired pain sensation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005555,Orphanet,2815,ORPHA:2815,13,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005560,Orphanet,3207,ORPHA:3207,17,HP:0012430,Cerebral white matter hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005562,Orphanet,2779,ORPHA:2779,7,HP:0000940,Abnormal diaphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005562,Orphanet,2779,ORPHA:2779,7,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005562,Orphanet,2779,ORPHA:2779,7,HP:0002211,White forelock,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005562,Orphanet,2779,ORPHA:2779,7,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005562,Orphanet,2779,ORPHA:2779,7,HP:0007412,Macular hyperpigmented dermopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005562,Orphanet,2779,ORPHA:2779,7,HP:0010740,Osteopathia striata,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005562,Orphanet,2779,ORPHA:2779,7,HP:0100670,Coarse metaphyseal trabecularization,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000311,Round face,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000744,Low frustration tolerance,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0002361,Psychomotor deterioration,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0004540,"Congenital, generalized hypertrichosis",Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0006712,Aplasia/Hypoplasia of the ribs,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0008905,Rhizomelia,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0010485,Hyperextensibility at elbow,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0012368,Flat face,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005565,Orphanet,319182,ORPHA:319182,58,HP:0100581,Dilatation of renal calices,Occasional (29-5%),TAS,,,,"[PMID:10826636, PMID:12558109, PMID:18019374, PMID:20803650, PMID:25810209, PMID:2738900, PMID:2773989, PMID:29574747]",y,y +GARD:0005569,Orphanet,3456,ORPHA:3456,11,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0005569,Orphanet,3456,ORPHA:3456,11,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0005569,Orphanet,3456,ORPHA:3456,11,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005569,Orphanet,3456,ORPHA:3456,11,HP:0000538,Pseudopapilledema,Occasional (29-5%),TAS,,,,,y,y +GARD:0005569,Orphanet,3456,ORPHA:3456,11,HP:0001132,Lens subluxation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005569,Orphanet,3456,ORPHA:3456,11,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,,y,y +GARD:0005569,Orphanet,3456,ORPHA:3456,11,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0005569,Orphanet,3456,ORPHA:3456,11,HP:0002949,Fused cervical vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005569,Orphanet,3456,ORPHA:3456,11,HP:0006897,Abducens palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005569,Orphanet,3456,ORPHA:3456,11,HP:0008527,Congenital sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005569,Orphanet,3456,ORPHA:3456,11,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0000132,Menorrhagia,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0000471,Gastrointestinal angiodysplasia,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0001897,Normocytic anemia,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0001931,Hypochromic anemia,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0001933,Subcutaneous hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0001934,Persistent bleeding after trauma,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0002170,Intracranial hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0002249,Melena,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0003125,Reduced factor VIII activity,Frequent (79-30%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0004377,Hematological neoplasm,Frequent (79-30%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0005261,Joint hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0005505,Refractory anemia,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0008151,Prolonged prothrombin time,Frequent (79-30%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0008330,Reduced von Willebrand factor activity,Frequent (79-30%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0025406,Asthenia,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0030129,Impaired ristocetin cofactor assay activity,Frequent (79-30%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005573,Orphanet,99147,ORPHA:99147,27,HP:0100608,Metrorrhagia,Occasional (29-5%),TAS,,,,"[PMID:29239101, PMID:30057374, PMID:30214173, PMID:31004311, PMID:31293998]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000059,Hypoplastic labia majora,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000060,Clitoral hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000064,Hypoplastic labia minora,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000217,Xerostomia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000446,Narrow nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000704,Periodontitis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000789,Infertility,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001055,Erysipelas,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001612,Weak cry,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0002494,Abnormal rapid eye movement sleep,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0002578,Gastroparesis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0002659,Increased susceptibility to fractures,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0003241,External genital hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0006889,"Intellectual disability, borderline",Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0007874,Almond-shaped palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0010536,Central sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0010829,Impaired temperature sensation,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0011734,Central adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0011787,Central hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0012411,Premature pubarche,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0012412,Premature adrenarche,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0012506,Small pituitary gland,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0012650,Perisylvian polymicrogyria,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0012743,Abdominal obesity,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0030339,Decreased circulating gonadotropin concentration,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0031100,Decreased inhibin B level,Occasional (29-5%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005575,Orphanet,739,ORPHA:739,74,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301505, PMID:22585395, PMID:30365815]",y,y +GARD:0005576,Orphanet,220,ORPHA:220,7,HP:0000037,Male pseudohermaphroditism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005576,Orphanet,220,ORPHA:220,7,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005576,Orphanet,220,ORPHA:220,7,HP:0000100,Nephrotic syndrome,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005576,Orphanet,220,ORPHA:220,7,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005576,Orphanet,220,ORPHA:220,7,HP:0000133,Gonadal dysgenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005576,Orphanet,220,ORPHA:220,7,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0005576,Orphanet,220,ORPHA:220,7,HP:0002667,Nephroblastoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0000336,Prominent supraorbital ridges,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0000518,Cataract,Excluded (0%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0000540,Hypermetropia,Excluded (0%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0000712,Emotional lability,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0001761,Pes cavus,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0001956,Truncal obesity,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0002465,Poor speech,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0009909,Uplifted earlobe,Excluded (0%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0010620,Malar prominence,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005579,Orphanet,3459,ORPHA:3459,28,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,"[PMID:1481864, PMID:1746601, PMID:25644381, PMID:758423]",y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0000588,Optic disc coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0001829,Foot polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0008065,Aplasia/Hypoplasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0009602,Abnormality of thumb phalanx,Frequent (79-30%),TAS,,,,,y,y +GARD:0005584,Orphanet,1553,ORPHA:1553,19,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0000698,Conical tooth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0001800,Hypoplastic toenails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0001804,Hypoplastic fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0001808,Fragile nails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0006349,Agenesis of permanent teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0008402,Ridged fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005587,Orphanet,2228,ORPHA:2228,16,HP:0012746,Thin toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0000857,Neonatal insulin-dependent diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001392,Abnormality of the liver,Very frequent (99-80%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001541,Ascites,Very rare (<4-1%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001631,Atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001719,Double outlet right ventricle,Very rare (<4-1%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001738,Exocrine pancreatic insufficiency,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001891,Iron deficiency anemia,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001987,Hyperammonemia,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0001993,Ketoacidosis,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0002480,Hepatic encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0002654,Multiple epiphyseal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0002902,Hyponatremia,Very rare (<4-1%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0002904,Hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0006554,Acute hepatic failure,Frequent (79-30%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0011787,Central hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0012622,Chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0100255,Metaphyseal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0100827,Lymphocytosis,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005589,Orphanet,1667,ORPHA:1667,40,HP:0410263,Brain imaging abnormality,Occasional (29-5%),TAS,,,,"[PMID:28843469, PMID:30514997, PMID:31884440]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000013,Hypoplasia of the uterus,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000674,Anodontia,Occasional (29-5%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000824,Decreased response to growth hormone stimulation test,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000831,Insulin-resistant diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0001266,Choreoathetosis,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0003077,Hyperlipidemia,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0005135,Abnormal T-wave,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0008209,Premature ovarian insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0008214,Decreased serum estradiol,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0008619,Bilateral sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0008669,Abnormal spermatogenesis,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0008697,Hypoplasia of the fallopian tube,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0010464,Streak ovary,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005592,Orphanet,3464,ORPHA:3464,35,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:1442893, PMID:17167799, PMID:19026396, PMID:20507343, PMID:6876115, PMID:8779325]",y,y +GARD:0005595,Orphanet,65282,ORPHA:65282,4,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005595,Orphanet,65282,ORPHA:65282,4,HP:0001644,Dilated cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005595,Orphanet,65282,ORPHA:65282,4,HP:0002224,Woolly hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005595,Orphanet,65282,ORPHA:65282,4,HP:0005588,Patchy palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005597,Orphanet,170,ORPHA:170,12,HP:0000479,Abnormal retinal morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005597,Orphanet,170,ORPHA:170,12,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005597,Orphanet,170,ORPHA:170,12,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0005597,Orphanet,170,ORPHA:170,12,HP:0000615,Abnormal pupil morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005597,Orphanet,170,ORPHA:170,12,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005597,Orphanet,170,ORPHA:170,12,HP:0002217,Slow-growing hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0005597,Orphanet,170,ORPHA:170,12,HP:0002224,Woolly hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005597,Orphanet,170,ORPHA:170,12,HP:0002231,Sparse body hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0005597,Orphanet,170,ORPHA:170,12,HP:0002299,Brittle hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005597,Orphanet,170,ORPHA:170,12,HP:0005338,Sparse lateral eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0005597,Orphanet,170,ORPHA:170,12,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0005597,Orphanet,170,ORPHA:170,12,HP:0010719,Abnormality of hair texture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005598,Orphanet,3465,ORPHA:3465,8,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005598,Orphanet,3465,ORPHA:3465,8,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005598,Orphanet,3465,ORPHA:3465,8,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005598,Orphanet,3465,ORPHA:3465,8,HP:0001291,Abnormal cranial nerve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005598,Orphanet,3465,ORPHA:3465,8,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005598,Orphanet,3465,ORPHA:3465,8,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005598,Orphanet,3465,ORPHA:3465,8,HP:0002445,Tetraplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005598,Orphanet,3465,ORPHA:3465,8,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0000239,Large fontanelles,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0000618,Blindness,Frequent (79-30%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0001199,Triphalangeal thumb,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0001838,Rocker bottom foot,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0001848,Calcaneovalgus deformity,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0002198,Dilated fourth ventricle,Frequent (79-30%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0005486,Small fontanelle,Frequent (79-30%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0005781,Contractures of the large joints,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0005949,Apneic episodes in infancy,Frequent (79-30%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0006829,Severe muscular hypotonia,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0008110,Equinovarus deformity,Occasional (29-5%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0008850,Severe postnatal growth retardation,Very frequent (99-80%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0012444,Brain atrophy,Frequent (79-30%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0012715,Profound hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:8456840],y,y +GARD:0005611,Orphanet,3078,ORPHA:3078,34,HP:0040288,Nasogastric tube feeding,Frequent (79-30%),TAS,,,,[PMID:8456840],y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000029,Testicular atrophy,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000086,Ectopic kidney,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000232,Everted lower lip vermilion,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000248,Brachycephaly,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000303,Mandibular prognathia,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000322,Short philtrum,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000378,Cupped ear,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000385,Small earlobe,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000391,Thickened helices,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000520,Proptosis,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000767,Pectus excavatum,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000768,Pectus carinatum,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0001355,Megalencephaly,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0001519,Disproportionate tall stature,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0002181,Cerebral edema,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0002187,"Intellectual disability, profound",Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0003199,Decreased muscle mass,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0003698,Difficulty standing,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0004322,Short stature,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0006610,Wide intermamillary distance,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0007509,Patchy hypo- and hyperpigmentation,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0007687,Unilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0010511,Long toe,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0010722,Asymmetry of the ears,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0010789,Abnormality of the Leydig cells,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0011003,High myopia,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0011153,Focal motor seizure,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0011308,Slender toe,Frequent (79-30%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0012385,Camptodactyly,Very rare (<4-1%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005615,Orphanet,3063,ORPHA:3063,66,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,"[PMID:14508504, PMID:18550699, PMID:19206178, PMID:19277733, PMID:23696453, PMID:23897707, PMID:30237987, PMID:5823961, PMID:8826448]",y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0000276,Long face,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001348,Brisk reflexes,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001518,Small for gestational age,Very rare (<4-1%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001561,Polyhydramnios,Very rare (<4-1%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001622,Premature birth,Very rare (<4-1%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0002058,Myopathic facies,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0002187,"Intellectual disability, profound",Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0002509,Limb hypertonia,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0002510,Spastic tetraplegia,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0002926,Abnormality of thyroid physiology,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0003324,Generalized muscle weakness,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0004488,Macrocephaly at birth,Very rare (<4-1%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0006579,Prolonged neonatal jaundice,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0008081,Pes valgus,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0008936,Axial hypotonia,Very frequent (99-80%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0011448,Ankle clonus,Occasional (29-5%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0011451,Primary microcephaly,Very rare (<4-1%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0012444,Brain atrophy,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0045082,Decreased body mass index,Frequent (79-30%),TAS,,,,[PMID:20301789],y,y +GARD:0005617,Orphanet,59,ORPHA:59,51,HP:0100660,Dyskinesia,Very rare (<4-1%),TAS,,,,[PMID:20301789],y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0000952,Jaundice,Very rare (<4-1%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0001888,Lymphopenia,Very frequent (99-80%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0001954,Recurrent fever,Very frequent (99-80%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0002090,Pneumonia,Very frequent (99-80%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0002240,Hepatomegaly,Very rare (<4-1%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0002665,Lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0002718,Recurrent bacterial infections,Frequent (79-30%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0002720,Decreased circulating IgA level,Frequent (79-30%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0002728,Chronic mucocutaneous candidiasis,Occasional (29-5%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0002732,Lymph node hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0003237,Increased circulating IgG level,Very rare (<4-1%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0004315,Decreased circulating IgG level,Frequent (79-30%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0005353,Recurrent herpes,Occasional (29-5%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0005376,Recurrent Haemophilus influenzae infections,Occasional (29-5%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0005390,Recurrent opportunistic infections,Frequent (79-30%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0005406,Recurrent bacterial skin infections,Occasional (29-5%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0005407,Decreased proportion of CD4-positive helper T cells,Very frequent (99-80%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0005428,Severe recurrent varicella,Occasional (29-5%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0005523,Lymphoproliferative disorder,Very rare (<4-1%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0009098,Chronic oral candidiasis,Occasional (29-5%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0010701,Abnormal immunoglobulin level,Very frequent (99-80%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0011370,Recurrent cutaneous fungal infections,Occasional (29-5%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0030813,Absent tonsils,Occasional (29-5%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0031381,Decreased lymphocyte proliferation in response to mitogen,Very frequent (99-80%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0031397,Decreased proportion of naive T cells,Very frequent (99-80%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0031545,Abnormally low T cell receptor excision circle level,Frequent (79-30%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0040218,Reduced natural killer cell count,Very frequent (99-80%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0045080,Decreased proportion of CD3-positive T cells,Frequent (79-30%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005618,Orphanet,276,ORPHA:276,33,HP:0100806,Sepsis,Frequent (79-30%),TAS,,,,"[PMID:11129345, PMID:20301584, PMID:21094519, PMID:21732012, PMID:26454313]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000464,Abnormality of the neck,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000492,Abnormal eyelid morphology,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000543,Optic disc pallor,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000649,Abnormality of visual evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001118,Juvenile cataract,Very frequent (99-80%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001138,Optic neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002028,Chronic diarrhea,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002088,Abnormal lung morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002151,Increased serum lactate,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002171,Gliosis,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002196,Myelopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002283,Global brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002310,Orofacial dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002313,Spastic paraparesis,Very rare (<4-1%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002322,Resting tremor,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002385,Paraparesis,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002423,Long-tract signs,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002453,Abnormal globus pallidus morphology,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002823,Abnormality of femur morphology,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002942,Thoracic kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0002992,Abnormality of tibia morphology,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0003474,Somatic sensory dysfunction,Very rare (<4-1%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0004416,Precocious atherosclerosis,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0005109,Abnormality of the Achilles tendon,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0005181,Premature coronary artery atherosclerosis,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0006480,Premature loss of teeth,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0006579,Prolonged neonatal jaundice,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0006958,Abnormal auditory evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0007272,Progressive psychomotor deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0007305,CNS demyelination,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0007377,Abnormality of somatosensory evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0007495,Prematurely aged appearance,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0007922,Hypermyelinated retinal nerve fibers,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0008046,Abnormal retinal vascular morphology,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0008516,Abnormality of the vertebral spinous processes,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0009811,Abnormality of the elbow,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0010530,Palatal myoclonus,Very rare (<4-1%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0010874,Tendon xanthomatosis,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0011931,Abnormal cerebellar peduncle morphology,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0011994,Abnormal atrial septum morphology,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0012075,Personality disorder,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0012706,Elevated brain choline level by MRS,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0012707,Elevated brain lactate level by MRS,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0012896,Abnormal motor evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0031589,Suicidal ideation,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0040078,Axonal degeneration,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0100321,Abnormal dentate nucleus morphology,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0100872,Abnormality of the plantar skin of foot,Frequent (79-30%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005622,Orphanet,909,ORPHA:909,91,HP:0200125,Mitochondrial respiratory chain defects,Occasional (29-5%),TAS,,,,"[PMID:20301583, PMID:28980151, PMID:33232000]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0001046,Intermittent jaundice,Occasional (29-5%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0001081,Cholelithiasis,Frequent (79-30%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0001878,Hemolytic anemia,Very frequent (99-80%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0001901,Polycythemia,Very rare (<4-1%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0001907,Thromboembolism,Occasional (29-5%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0001923,Reticulocytosis,Frequent (79-30%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0001930,Nonspherocytic hemolytic anemia,Very frequent (99-80%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0001972,Macrocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0001981,Schistocytosis,Frequent (79-30%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0003265,Neonatal hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0003281,Increased circulating ferritin concentration,Frequent (79-30%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0003573,Increased total bilirubin,Frequent (79-30%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0004804,Congenital hemolytic anemia,Occasional (29-5%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0005502,Increased red cell osmotic fragility,Very frequent (99-80%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0005518,Increased mean corpuscular volume,Occasional (29-5%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0010972,Anemia of inadequate production,Occasional (29-5%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0011042,Abnormal blood potassium concentration,Frequent (79-30%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0012431,Episodic fatigue,Occasional (29-5%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0020063,Increased hemoglobin concentration,Occasional (29-5%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0025548,Increased mean corpuscular hemoglobin concentration,Occasional (29-5%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0030242,Portal vein thrombosis,Very rare (<4-1%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005623,Orphanet,3202,ORPHA:3202,26,HP:0030950,Pulmonary venous hypertension,Very rare (<4-1%),TAS,,,,"[PMID:21944700, PMID:29210095, PMID:30187933, PMID:30655378]",y,y +GARD:0005630,Orphanet,90342,ORPHA:90342,13,HP:0000491,Keratitis,Frequent (79-30%),TAS,,,,[PMID:22044607],y,y +GARD:0005630,Orphanet,90342,ORPHA:90342,13,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,[PMID:22044607],y,y +GARD:0005630,Orphanet,90342,ORPHA:90342,13,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,[PMID:22044607],y,y +GARD:0005630,Orphanet,90342,ORPHA:90342,13,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,[PMID:22044607],y,y +GARD:0005630,Orphanet,90342,ORPHA:90342,13,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,[PMID:22044607],y,y +GARD:0005630,Orphanet,90342,ORPHA:90342,13,HP:0001009,Telangiectasia,Frequent (79-30%),TAS,,,,[PMID:22044607],y,y +GARD:0005630,Orphanet,90342,ORPHA:90342,13,HP:0001010,Hypopigmentation of the skin,Very frequent (99-80%),TAS,,,,[PMID:22044607],y,y +GARD:0005630,Orphanet,90342,ORPHA:90342,13,HP:0001029,Poikiloderma,Very frequent (99-80%),TAS,,,,[PMID:22044607],y,y +GARD:0005630,Orphanet,90342,ORPHA:90342,13,HP:0002671,Basal cell carcinoma,Frequent (79-30%),TAS,,,,[PMID:22044607],y,y +GARD:0005630,Orphanet,90342,ORPHA:90342,13,HP:0002860,Squamous cell carcinoma,Frequent (79-30%),TAS,,,,[PMID:22044607],y,y +GARD:0005630,Orphanet,90342,ORPHA:90342,13,HP:0002861,Melanoma,Frequent (79-30%),TAS,,,,[PMID:22044607],y,y +GARD:0005630,Orphanet,90342,ORPHA:90342,13,HP:0004334,Dermal atrophy,Frequent (79-30%),TAS,,,,[PMID:22044607],y,y +GARD:0005630,Orphanet,90342,ORPHA:90342,13,HP:0007603,Freckles in sun-exposed areas,Very frequent (99-80%),TAS,,,,[PMID:22044607],y,y +GARD:0005642,Orphanet,916,ORPHA:916,14,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005642,Orphanet,916,ORPHA:916,14,HP:0000211,Trismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005642,Orphanet,916,ORPHA:916,14,HP:0000377,Abnormal pinna morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005642,Orphanet,916,ORPHA:916,14,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005642,Orphanet,916,ORPHA:916,14,HP:0001238,Slender finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0005642,Orphanet,916,ORPHA:916,14,HP:0001305,Dandy-Walker malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005642,Orphanet,916,ORPHA:916,14,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005642,Orphanet,916,ORPHA:916,14,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005642,Orphanet,916,ORPHA:916,14,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005642,Orphanet,916,ORPHA:916,14,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0005642,Orphanet,916,ORPHA:916,14,HP:0002828,Multiple joint contractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005642,Orphanet,916,ORPHA:916,14,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005642,Orphanet,916,ORPHA:916,14,HP:0006501,Aplasia/Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0005642,Orphanet,916,ORPHA:916,14,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0000597,Ophthalmoparesis,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0000643,Blepharospasm,Occasional (29-5%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0001138,Optic neuropathy,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0001152,Saccadic smooth pursuit,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0002345,Action tremor,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0010831,Impaired proprioception,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0010867,Dyssynergia,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0012048,Oromandibular dystonia,Occasional (29-5%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005643,Orphanet,101,ORPHA:101,26,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:21619691, PMID:21827919, PMID:6808417, PMID:7614090]",y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0000163,Abnormal oral cavity morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0002076,Migraine,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0002383,Infectious encephalitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0004370,Abnormality of temperature regulation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0005657,Orphanet,42642,ORPHA:42642,16,HP:0100776,Recurrent pharyngitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0000040,Long penis,Frequent (79-30%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0000061,"Ambiguous genitalia, female",Frequent (79-30%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0000127,Renal salt wasting,Occasional (29-5%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0000826,Precocious puberty,Frequent (79-30%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0000858,Irregular menstruation,Frequent (79-30%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0001061,Acne,Frequent (79-30%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0001507,Growth abnormality,Very frequent (99-80%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0002170,Intracranial hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0003154,Increased circulating ACTH level,Frequent (79-30%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0003351,Decreased circulating renin level,Very frequent (99-80%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0008163,Decreased circulating cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0008236,Isosexual precocious puberty,Frequent (79-30%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0008665,Clitoral hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0010314,Premature thelarche,Very rare (<4-1%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0012411,Premature pubarche,Frequent (79-30%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0012412,Premature adrenarche,Frequent (79-30%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0025380,Increased circulating androstenedione concentration,Very frequent (99-80%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0025451,Testicular adrenal rest tumor,Occasional (29-5%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0030088,Increased serum testosterone level,Occasional (29-5%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0030348,Increased circulating androgen concentration,Very frequent (99-80%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0031213,Elevated circulating 17-hydroxyprogesterone,Very frequent (99-80%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005658,Orphanet,90795,ORPHA:90795,32,HP:0032330,Increased urinary 11-deoxycorticosterone level,Very frequent (99-80%),TAS,,,,"[PMID:24741421, PMID:27928728, PMID:28228528, PMID:33708317]",y,y +GARD:0005659,Orphanet,752,ORPHA:752,8,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005659,Orphanet,752,ORPHA:752,8,HP:0000037,Male pseudohermaphroditism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005659,Orphanet,752,ORPHA:752,8,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005659,Orphanet,752,ORPHA:752,8,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005659,Orphanet,752,ORPHA:752,8,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005659,Orphanet,752,ORPHA:752,8,HP:0000789,Infertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005659,Orphanet,752,ORPHA:752,8,HP:0000795,Abnormality of the urethra,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005659,Orphanet,752,ORPHA:752,8,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005662,Orphanet,939,ORPHA:939,15,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005663,Orphanet,67047,ORPHA:67047,9,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005663,Orphanet,67047,ORPHA:67047,9,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005663,Orphanet,67047,ORPHA:67047,9,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005663,Orphanet,67047,ORPHA:67047,9,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005663,Orphanet,67047,ORPHA:67047,9,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,,y,y +GARD:0005663,Orphanet,67047,ORPHA:67047,9,HP:0001266,Choreoathetosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005663,Orphanet,67047,ORPHA:67047,9,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0005663,Orphanet,67047,ORPHA:67047,9,HP:0002313,Spastic paraparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005663,Orphanet,67047,ORPHA:67047,9,HP:0003535,3-Methylglutaconic aciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000235,Abnormality of the fontanelles or cranial sutures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000269,Prominent occiput,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000329,Facial hemangioma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000835,Adrenal hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0000921,Missing ribs,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001195,Single umbilical artery,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001305,Dandy-Walker malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001633,Abnormal mitral valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001636,Tetralogy of Fallot,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001642,Pulmonic stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001650,Aortic valve stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001702,Abnormal tricuspid valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0001804,Hypoplastic fingernail,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0002937,Hemivertebrae,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0003272,Abnormal hip bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0004383,Hypoplastic left heart,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0006695,Atrioventricular canal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0006709,Aplasia/Hypoplasia of the nipples,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005666,Orphanet,7,ORPHA:7,64,HP:0008897,Postnatal growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000144,Decreased fertility,Occasional (29-5%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000883,Thin ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000888,Horizontal ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0001838,Rocker bottom foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0002983,Micromelia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0003022,Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0003100,Slender long bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0003173,Hypoplastic pubic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0003175,Hypoplastic ischia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0003691,Scapular winging,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0004570,Increased vertebral height,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0008839,Hypoplastic pelvis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0010306,Short thorax,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0100625,Enlarged thorax,Frequent (79-30%),TAS,,,,,y,y +GARD:0005667,Orphanet,2616,ORPHA:2616,42,HP:0100659,Abnormal cerebral vascular morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005668,Orphanet,2118,ORPHA:2118,9,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005668,Orphanet,2118,ORPHA:2118,9,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005668,Orphanet,2118,ORPHA:2118,9,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005668,Orphanet,2118,ORPHA:2118,9,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005668,Orphanet,2118,ORPHA:2118,9,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005668,Orphanet,2118,ORPHA:2118,9,HP:0003161,4-Hydroxyphenylpyruvic aciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005668,Orphanet,2118,ORPHA:2118,9,HP:0003607,4-hydroxyphenylacetic aciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005668,Orphanet,2118,ORPHA:2118,9,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005668,Orphanet,2118,ORPHA:2118,9,HP:0010917,Abnormal circulating tyrosine concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0000062,Ambiguous genitalia,Excluded (0%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0000133,Gonadal dysgenesis,Obligate (100%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0000869,Secondary amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0001166,Arachnodactyly,Very rare (<4-1%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0001939,Abnormality of metabolism/homeostasis,Occasional (29-5%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0002206,Pulmonary fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0002225,Sparse pubic hair,Frequent (79-30%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0005625,Osteoporosis of vertebrae,Frequent (79-30%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0008209,Premature ovarian insufficiency,Obligate (100%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0008214,Decreased serum estradiol,Very frequent (99-80%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0008684,Aplasia/hypoplasia of the uterus,Frequent (79-30%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0009888,Abnormality of secondary sexual hair,Very frequent (99-80%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0010311,Aplasia/Hypoplasia of the breasts,Frequent (79-30%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005671,Orphanet,243,ORPHA:243,25,HP:0010464,Streak ovary,Frequent (79-30%),TAS,,,,"[PMID:11129329, PMID:15136966, PMID:20087398, PMID:21963259, PMID:7553856, PMID:9769327]",y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0000098,Tall stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0000716,Depression,Occasional (29-5%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0000869,Secondary amenorrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005672,Orphanet,3375,ORPHA:3375,21,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000027,Azoospermia,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000053,Macroorchidism,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000735,Impaired social interactions,Frequent (79-30%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000798,Oligospermia,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0000837,Increased circulating gonadotropin level,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0002099,Asthma,Frequent (79-30%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0002195,Dysgenesis of the cerebellar vermis,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0002363,Abnormal brainstem morphology,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0003251,Male infertility,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0007033,Cerebellar dysplasia,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0007642,Congenital stationary night blindness,Frequent (79-30%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0012871,Varicocele,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0030088,Increased serum testosterone level,Occasional (29-5%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0040019,Finger clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005674,Orphanet,8,ORPHA:8,34,HP:0100710,Impulsivity,Frequent (79-30%),TAS,,,,"[PMID:21671976, PMID:23695861, PMID:23810129, PMID:6419709]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000027,Azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000098,Tall stature,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000679,Taurodontia,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0000789,Infertility,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0002099,Asthma,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0002463,Language impairment,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0002673,Coxa valga,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0003042,Elbow dislocation,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0006919,"Abnormal aggressive, impulsive or violent behavior",Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0010807,Open bite,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0012433,Abnormal social behavior,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005676,Orphanet,96263,ORPHA:96263,62,HP:0200021,Down-sloping shoulders,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000027,Azoospermia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000098,Tall stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000276,Long face,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000679,Taurodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000716,Depression,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000789,Infertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0002099,Asthma,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0003042,Elbow dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0003043,Abnormal shoulder morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0005469,Flat occiput,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0010807,Open bite,Frequent (79-30%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0012802,Broad jaw,Occasional (29-5%),TAS,,,,,y,y +GARD:0005677,Orphanet,10,ORPHA:10,61,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0010978,Abnormality of immune system physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005678,Orphanet,11,ORPHA:11,22,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000027,Azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000110,Renal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000457,Depressed nasal ridge,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000679,Taurodontia,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000744,Low frustration tolerance,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0000789,Infertility,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0002099,Asthma,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0002139,Arrhinencephaly,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0002463,Language impairment,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0002673,Coxa valga,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0003042,Elbow dislocation,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0010807,Open bite,Very frequent (99-80%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0100025,Overfriendliness,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0100962,Shyness,Occasional (29-5%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005679,Orphanet,96264,ORPHA:96264,64,HP:0200021,Down-sloping shoulders,Frequent (79-30%),TAS,,,,"[PMID:17062147, PMID:21342258]",y,y +GARD:0005680,Orphanet,753,ORPHA:753,10,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005680,Orphanet,753,ORPHA:753,10,HP:0000033,"Ambiguous genitalia, male",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005680,Orphanet,753,ORPHA:753,10,HP:0000046,Small scrotum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005680,Orphanet,753,ORPHA:753,10,HP:0000048,Bifid scrotum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005680,Orphanet,753,ORPHA:753,10,HP:0000051,Perineal hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005680,Orphanet,753,ORPHA:753,10,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005680,Orphanet,753,ORPHA:753,10,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005680,Orphanet,753,ORPHA:753,10,HP:0000818,Abnormality of the endocrine system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005680,Orphanet,753,ORPHA:753,10,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005680,Orphanet,753,ORPHA:753,10,HP:0100779,Urogenital sinus anomaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0000711,Restlessness,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0000716,Depression,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0002067,Bradykinesia,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0002179,Opisthotonus,Frequent (79-30%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0002329,Drowsiness,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0002487,Hyperkinetic movements,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0002527,Falls,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0003781,Excessive salivation,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005682,Orphanet,13,ORPHA:13,31,HP:0010553,Oculogyric crisis,Occasional (29-5%),TAS,,,,[PMID:11388593],y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000074,Ureteropelvic junction obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000171,Microglossia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000499,Abnormal eyelash morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000647,Sclerocornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000717,Autism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000965,Cutis marmorata,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0000996,Facial capillary hemangioma,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001171,Split hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001262,Excessive daytime somnolence,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001543,Gastroschisis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001600,Abnormality of the larynx,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001830,Postaxial foot polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0001884,Talipes calcaneovalgus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0002101,Abnormal lung lobation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0002777,Tracheal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0003027,Mesomelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0004691,2-3 toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0005264,Abnormality of the gallbladder,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0005599,Hypopigmentation of hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0006288,Advanced eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0006501,Aplasia/Hypoplasia of the radius,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0006695,Atrioventricular canal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0008665,Clitoral hypertrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0008905,Rhizomelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0009465,Ulnar deviation of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0009623,Proximal placement of thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0009804,Tooth agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0010297,Bifid tongue,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0010569,Elevated 7-dehydrocholesterol,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0010880,Increased nuchal translucency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0005683,Orphanet,818,ORPHA:818,106,HP:0100716,Self-injurious behavior,Frequent (79-30%),TAS,,,,,y,y +GARD:0005686,Orphanet,371,ORPHA:371,6,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0005686,Orphanet,371,ORPHA:371,6,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005686,Orphanet,371,ORPHA:371,6,HP:0002149,Hyperuricemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005686,Orphanet,371,ORPHA:371,6,HP:0002486,Myotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005686,Orphanet,371,ORPHA:371,6,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005686,Orphanet,371,ORPHA:371,6,HP:0009051,Increased muscle glycogen content,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000179,Thick lower lip vermilion,Occasional (29-5%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000276,Long face,Frequent (79-30%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000567,Chorioretinal coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0000612,Iris coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0001831,Short toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0004942,Aortic aneurysm,Frequent (79-30%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0005688,Orphanet,1777,ORPHA:1777,25,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000458,Anosmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000488,Retinopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000529,Progressive visual loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000616,Miosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000662,Nyctalopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0001638,Cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0001765,Hammertoe,Frequent (79-30%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0002164,Nail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0004374,Hemiplegia/hemiparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,,y,y +GARD:0005691,Orphanet,773,ORPHA:773,38,HP:0012722,Heart block,Occasional (29-5%),TAS,,,,,y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0000027,Azoospermia,Occasional (29-5%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0000051,Perineal hypospadias,Occasional (29-5%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0000151,Aplasia of the uterus,Very frequent (99-80%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0000786,Primary amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0001620,High pitched voice,Occasional (29-5%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0003251,Male infertility,Very frequent (99-80%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0008189,Insulin insensitivity,Occasional (29-5%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0008665,Clitoral hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0008689,Bilateral cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0009888,Abnormality of secondary sexual hair,Occasional (29-5%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0010463,Aplasia of the ovary,Very frequent (99-80%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0011969,Elevated circulating luteinizing hormone level,Very frequent (99-80%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0025132,Abnormal circulating estrogen level,Frequent (79-30%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0025134,Increased serum estradiol,Occasional (29-5%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0025486,Fused labia majora,Occasional (29-5%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0030088,Increased serum testosterone level,Very frequent (99-80%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0031102,Increased antimullerian hormone level,Very frequent (99-80%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0040307,Male sexual dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0040314,Blind vagina,Occasional (29-5%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0100728,Germ cell neoplasia,Occasional (29-5%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005692,Orphanet,90797,ORPHA:90797,26,HP:0100779,Urogenital sinus anomaly,Occasional (29-5%),TAS,,,,"[PMID:29768628, PMID:29949163, PMID:31351520]",y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0000509,Conjunctivitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0002037,Inflammation of the large intestine,Frequent (79-30%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0002103,Abnormal pleura morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0002754,Osteomyelitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0008391,Dystrophic fingernails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0011107,Recurrent aphthous stomatitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0100686,Enthesitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0100773,Cartilage destruction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005693,Orphanet,29207,ORPHA:29207,26,HP:0200039,Pustule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000035,Abnormal testis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000563,Keratoconus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000602,Ophthalmoplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000842,Hyperinsulinemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0000987,Atypical scarring of skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0007675,Progressive night blindness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0008046,Abnormal retinal vascular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005694,Orphanet,791,ORPHA:791,26,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005695,Orphanet,90050,ORPHA:90050,8,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:28420777, PMID:3839410]",y,y +GARD:0005695,Orphanet,90050,ORPHA:90050,8,HP:0001103,Abnormal macular morphology,Occasional (29-5%),TAS,,,,"[PMID:28420777, PMID:3839410]",y,y +GARD:0005695,Orphanet,90050,ORPHA:90050,8,HP:0001136,Retinal arteriolar tortuosity,Occasional (29-5%),TAS,,,,"[PMID:28420777, PMID:3839410]",y,y +GARD:0005695,Orphanet,90050,ORPHA:90050,8,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:28420777, PMID:3839410]",y,y +GARD:0005695,Orphanet,90050,ORPHA:90050,8,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,"[PMID:28420777, PMID:3839410]",y,y +GARD:0005695,Orphanet,90050,ORPHA:90050,8,HP:0007902,Vitreous hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:28420777, PMID:3839410]",y,y +GARD:0005695,Orphanet,90050,ORPHA:90050,8,HP:0007917,Tractional retinal detachment,Occasional (29-5%),TAS,,,,"[PMID:28420777, PMID:3839410]",y,y +GARD:0005695,Orphanet,90050,ORPHA:90050,8,HP:0008046,Abnormal retinal vascular morphology,Very frequent (99-80%),TAS,,,,"[PMID:28420777, PMID:3839410]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0000253,Progressive microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0000733,Motor stereotypy,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0001082,Cholecystitis,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0001987,Hyperammonemia,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0002151,Increased serum lactate,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0002490,Increased CSF lactate,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0002793,Abnormal pattern of respiration,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0003542,Increased serum pyruvate,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0011451,Primary microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0012171,Stereotypical hand wringing,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0025430,High-pitched cry,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0030217,Limb apraxia,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005696,Orphanet,778,ORPHA:778,30,HP:0031793,Increased serum leptin,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:29445033, PMID:31645864]",y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0000246,Sinusitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0001633,Abnormal mitral valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0001646,Abnormal aortic valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0002103,Abnormal pleura morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0010522,Dyslexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0010526,Dysgraphia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0012819,Myocarditis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0100248,Hemiballismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0100584,Endocarditis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0005699,Orphanet,3099,ORPHA:3099,36,HP:0100776,Recurrent pharyngitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0000327,Hypoplasia of the maxilla,Occasional (29-5%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0000593,Abnormal anterior chamber morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0000627,Posterior embryotoxon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0001582,Redundant skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0002025,Anal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0008053,Aplasia/Hypoplasia of the iris,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005701,Orphanet,782,ORPHA:782,21,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005708,Orphanet,930,ORPHA:930,10,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:23871090, PMID:31451984]",y,y +GARD:0005708,Orphanet,930,ORPHA:930,10,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,"[PMID:23871090, PMID:31451984]",y,y +GARD:0005708,Orphanet,930,ORPHA:930,10,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:23871090, PMID:31451984]",y,y +GARD:0005708,Orphanet,930,ORPHA:930,10,HP:0002100,Recurrent aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:23871090, PMID:31451984]",y,y +GARD:0005708,Orphanet,930,ORPHA:930,10,HP:0004395,Malnutrition,Occasional (29-5%),TAS,,,,"[PMID:23871090, PMID:31451984]",y,y +GARD:0005708,Orphanet,930,ORPHA:930,10,HP:0012387,Bronchitis,Frequent (79-30%),TAS,,,,"[PMID:23871090, PMID:31451984]",y,y +GARD:0005708,Orphanet,930,ORPHA:930,10,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:23871090, PMID:31451984]",y,y +GARD:0005708,Orphanet,930,ORPHA:930,10,HP:0030828,Wheezing,Occasional (29-5%),TAS,,,,"[PMID:23871090, PMID:31451984]",y,y +GARD:0005708,Orphanet,930,ORPHA:930,10,HP:0031085,Decreased prealbumin level,Occasional (29-5%),TAS,,,,"[PMID:23871090, PMID:31451984]",y,y +GARD:0005708,Orphanet,930,ORPHA:930,10,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:23871090, PMID:31451984]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0000183,Difficulty in tongue movements,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0000297,Facial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0001371,Flexion contracture,Very rare (<4-1%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0001712,Left ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0002607,Bowel incontinence,Very rare (<4-1%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0003324,Generalized muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0003391,Gowers sign,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0004944,Dilatation of the cerebral artery,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0005165,Shortened PR interval,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0005216,Impaired mastication,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0007002,Motor axonal neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0009073,Progressive proximal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0009113,Diaphragmatic weakness,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0010471,Oligosacchariduria,Very frequent (99-80%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0011947,Respiratory tract infection,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0012532,Chronic pain,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0012727,Thoracic aortic aneurysm,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0012764,Orthopnea,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0030195,Fatigable weakness of swallowing muscles,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0030196,Fatigable weakness of respiratory muscles,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0030231,Glycogen accumulation in muscle fiber lysosomes,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0031310,Basilar artery calcification,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0031964,Elevated circulating alanine aminotransferase concentration,Frequent (79-30%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0032092,Left ventricular outflow tract obstruction,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:0100750,Atelectasis,Very rare (<4-1%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005714,Orphanet,365,ORPHA:365,65,HP:3000062,Abnormal internal carotid artery morphology,Occasional (29-5%),TAS,,,,"[PMID:17190962, PMID:30117059]",y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0000260,Wide anterior fontanel,Occasional (29-5%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0000269,Prominent occiput,Frequent (79-30%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0000889,Abnormal clavicle morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0001199,Triphalangeal thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0001305,Dandy-Walker malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005721,Orphanet,36,ORPHA:36,18,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0000157,Abnormality of the tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0000206,Glossitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0000221,Furrowed tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0000492,Abnormal eyelid morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0000498,Blepharitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0000509,Conjunctivitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0000534,Abnormal eyebrow morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0001807,Ridged nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0001818,Paronychia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0002028,Chronic diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0008402,Ridged fingernail,Frequent (79-30%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0011354,Generalized abnormality of skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0100825,Cheilitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0200020,Corneal erosion,Occasional (29-5%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0200039,Pustule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005723,Orphanet,37,ORPHA:37,31,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000055,Abnormality of female external genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000194,Open mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000858,Irregular menstruation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0000995,Melanocytic nevus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0001831,Short toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0002818,Abnormality of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0002983,Micromelia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0002984,Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0002997,Abnormality of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0003022,Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0003416,Spinal canal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0010579,Cone-shaped epiphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0010655,Epiphyseal stippling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0010743,Short metatarsal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0010807,Open bite,Occasional (29-5%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0010978,Abnormality of immune system physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005724,Orphanet,950,ORPHA:950,40,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000040,Long penis,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000716,Depression,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000802,Impotence,Occasional (29-5%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000818,Abnormality of the endocrine system,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000830,Anterior hypopituitarism,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000845,Elevated circulating growth hormone concentration,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0001061,Acne,Occasional (29-5%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0001176,Large hands,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0001769,Broad foot,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0001869,Deep plantar creases,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0002758,Osteoarthritis,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0003416,Spinal canal stenosis,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0003859,Cortical diaphyseal thickening of the upper limbs,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0004099,Macrodactyly,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0006191,Deep palmar crease,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0006767,Pituitary prolactin cell adenoma,Occasional (29-5%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0007440,Generalized hyperpigmentation,Occasional (29-5%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0008388,Abnormal toenail morphology,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0010535,Sleep apnea,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0011760,Pituitary growth hormone cell adenoma,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0012802,Broad jaw,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0030265,Wide penis,Occasional (29-5%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0100021,Cerebral palsy,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0100518,Dysuria,Occasional (29-5%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0100607,Dysmenorrhea,Frequent (79-30%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0100786,Hypersomnia,Occasional (29-5%),TAS,,,,[PMID:18578866],y,y +GARD:0005725,Orphanet,963,ORPHA:963,61,HP:0100829,Galactorrhea,Occasional (29-5%),TAS,,,,[PMID:18578866],y,y +GARD:0005727,Orphanet,199296,ORPHA:199296,11,HP:0000835,Adrenal hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:11290323, PMID:15476446, PMID:15525497, PMID:15613420, PMID:15666849, PMID:16390921, PMID:22170728, PMID:4295129, PMID:6314808, PMID:8008696]",y,y +GARD:0005727,Orphanet,199296,ORPHA:199296,11,HP:0001998,Neonatal hypoglycemia,Obligate (100%),TAS,,,,"[PMID:11290323, PMID:15476446, PMID:15525497, PMID:15613420, PMID:15666849, PMID:16390921, PMID:22170728, PMID:4295129, PMID:6314808, PMID:8008696]",y,y +GARD:0005727,Orphanet,199296,ORPHA:199296,11,HP:0002153,Hyperkalemia,Excluded (0%),TAS,,,,"[PMID:11290323, PMID:15476446, PMID:15525497, PMID:15613420, PMID:15666849, PMID:16390921, PMID:22170728, PMID:4295129, PMID:6314808, PMID:8008696]",y,y +GARD:0005727,Orphanet,199296,ORPHA:199296,11,HP:0002173,Hypoglycemic seizures,Frequent (79-30%),TAS,,,,"[PMID:11290323, PMID:15476446, PMID:15525497, PMID:15613420, PMID:15666849, PMID:16390921, PMID:22170728, PMID:4295129, PMID:6314808, PMID:8008696]",y,y +GARD:0005727,Orphanet,199296,ORPHA:199296,11,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:11290323, PMID:15476446, PMID:15525497, PMID:15613420, PMID:15666849, PMID:16390921, PMID:22170728, PMID:4295129, PMID:6314808, PMID:8008696]",y,y +GARD:0005727,Orphanet,199296,ORPHA:199296,11,HP:0002902,Hyponatremia,Very frequent (99-80%),TAS,,,,"[PMID:11290323, PMID:15476446, PMID:15525497, PMID:15613420, PMID:15666849, PMID:16390921, PMID:22170728, PMID:4295129, PMID:6314808, PMID:8008696]",y,y +GARD:0005727,Orphanet,199296,ORPHA:199296,11,HP:0006579,Prolonged neonatal jaundice,Frequent (79-30%),TAS,,,,"[PMID:11290323, PMID:15476446, PMID:15525497, PMID:15613420, PMID:15666849, PMID:16390921, PMID:22170728, PMID:4295129, PMID:6314808, PMID:8008696]",y,y +GARD:0005727,Orphanet,199296,ORPHA:199296,11,HP:0008163,Decreased circulating cortisol level,Obligate (100%),TAS,,,,"[PMID:11290323, PMID:15476446, PMID:15525497, PMID:15613420, PMID:15666849, PMID:16390921, PMID:22170728, PMID:4295129, PMID:6314808, PMID:8008696]",y,y +GARD:0005727,Orphanet,199296,ORPHA:199296,11,HP:0011735,Adrenocorticotropin deficient adrenal insufficiency,Obligate (100%),TAS,,,,"[PMID:11290323, PMID:15476446, PMID:15525497, PMID:15613420, PMID:15666849, PMID:16390921, PMID:22170728, PMID:4295129, PMID:6314808, PMID:8008696]",y,y +GARD:0005727,Orphanet,199296,ORPHA:199296,11,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:11290323, PMID:15476446, PMID:15525497, PMID:15613420, PMID:15666849, PMID:16390921, PMID:22170728, PMID:4295129, PMID:6314808, PMID:8008696]",y,y +GARD:0005727,Orphanet,199296,ORPHA:199296,11,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:11290323, PMID:15476446, PMID:15525497, PMID:15613420, PMID:15666849, PMID:16390921, PMID:22170728, PMID:4295129, PMID:6314808, PMID:8008696]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0000016,Urinary retention,Very rare (<4-1%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0000020,Urinary incontinence,Very rare (<4-1%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0000711,Restlessness,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0000975,Hyperhidrosis,Very rare (<4-1%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0001337,Tremor,Very rare (<4-1%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0001402,Hepatocellular carcinoma,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0002203,Respiratory paralysis,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0002595,Ileus,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0003163,Elevated urinary delta-aminolevulinic acid,Very frequent (99-80%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0003418,Back pain,Frequent (79-30%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0004347,Weakness of muscles of respiration,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0006824,Cranial nerve paralysis,Frequent (79-30%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0007002,Motor axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0007024,Pseudobulbar paralysis,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0007178,Motor polyneuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0008994,Proximal muscle weakness in lower limbs,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0008997,Proximal muscle weakness in upper limbs,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0009763,Limb pain,Frequent (79-30%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0010473,Porphyrinuria,Very frequent (99-80%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0011121,Abnormality of skin morphology,Excluded (0%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0011999,Paranoia,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0012217,Increased urinary porphobilinogen,Very frequent (99-80%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0030833,Neck pain,Frequent (79-30%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0040319,Dark urine,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0100518,Dysuria,Very rare (<4-1%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0100785,Insomnia,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005732,Orphanet,79276,ORPHA:79276,51,HP:0410263,Brain imaging abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301372, PMID:29383964]",y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0000965,Cutis marmorata,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001057,Aplasia cutis congenita,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001171,Split hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001362,Calvarial skull defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001636,Tetralogy of Fallot,Frequent (79-30%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001641,Abnormal pulmonary valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001804,Hypoplastic fingernail,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001817,Absent fingernail,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0001883,Talipes,Frequent (79-30%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0002040,Esophageal varix,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0002132,Porencephalic cyst,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0002612,Congenital hepatic fibrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0002814,Abnormality of the lower limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0002817,Abnormality of the upper limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0004050,Absent hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0004935,Pulmonary artery atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0006970,Periventricular leukomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0010624,Aplastic/hypoplastic toenail,Occasional (29-5%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0010760,Absent toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005739,Orphanet,974,ORPHA:974,46,HP:0100026,Arteriovenous malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0000127,Renal salt wasting,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0000829,Hypoparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0000835,Adrenal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0000848,Increased circulating renin level,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0000872,Hashimoto thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0001278,Orthostatic hypotension,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0001897,Normocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0002149,Hyperuricemia,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0002153,Hyperkalemia,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0002215,Sparse axillary hair,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0002608,Celiac disease,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0003154,Increased circulating ACTH level,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0004319,Decreased circulating aldosterone level,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0004860,Thiamine-responsive megaloblastic anemia,Very rare (<4-1%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0005976,Hyperkalemic metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0006462,Generalized bone demineralization,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0008163,Decreased circulating cortisol level,Obligate (100%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0008207,Primary adrenal insufficiency,Obligate (100%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0008209,Premature ovarian insufficiency,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0008226,Androgen insufficiency,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0008720,Primary testicular failure,Very rare (<4-1%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0010512,Adrenal calcification,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0012364,Decreased urinary potassium,Frequent (79-30%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0030018,Decreased female libido,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0030083,Salt craving,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0100522,Thymoma,Very rare (<4-1%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005740,Orphanet,85138,ORPHA:85138,48,HP:0100651,Type I diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:11443143, PMID:15654180, PMID:15950720, PMID:16968806, PMID:18000094, PMID:19574315, PMID:20399314, PMID:20400889, PMID:23697517, PMID:24613067, PMID:24695602, PMID:25295623, PMID:8614434]",y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0000246,Sinusitis,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0002849,Absence of lymph node germinal center,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0003212,Increased circulating IgE level,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0005354,Lack of T cell function,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0005368,Abnormality of humoral immunity,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0005390,Recurrent opportunistic infections,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0005403,T lymphocytopenia,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0006532,Recurrent pneumonia,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0010444,Pulmonary insufficiency,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0010976,B lymphocytopenia,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0011123,Inflammatory abnormality of the skin,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0012393,Allergy,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0025379,Anti-thyroid peroxidase antibody positivity,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005748,Orphanet,277,ORPHA:277,20,HP:0030813,Absent tonsils,Frequent (79-30%),TAS,,,,[PMID:20301656],y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0000217,Xerostomia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0000709,Psychosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0000716,Depression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0000739,Anxiety,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0001581,Recurrent skin infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0002215,Sparse axillary hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0002225,Sparse pubic hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0002315,Headache,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005750,Orphanet,36397,ORPHA:36397,26,HP:0100585,Telangiectasia of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0000011,Neurogenic bladder,Frequent (79-30%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0000734,Disinhibition,Frequent (79-30%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0000752,Hyperactivity,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0000802,Impotence,Occasional (29-5%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0000846,Adrenal insufficiency,Frequent (79-30%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0001123,Visual field defect,Frequent (79-30%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0001730,Progressive hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0002311,Incoordination,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0002312,Clumsiness,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0002381,Aphasia,Frequent (79-30%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0002385,Paraparesis,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0002516,Increased intracranial pressure,Frequent (79-30%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0002839,Urinary bladder sphincter dysfunction,Frequent (79-30%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0003154,Increased circulating ACTH level,Frequent (79-30%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0003470,Paralysis,Occasional (29-5%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0003474,Somatic sensory dysfunction,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0004302,Functional motor deficit,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0007199,Progressive spastic paraparesis,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0008768,Inappropriate sexual behavior,Frequent (79-30%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0008969,Leg muscle stiffness,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0011733,Abnormality of adrenal physiology,Frequent (79-30%),TAS,,,,[PMID:20301491],y,y +GARD:0005758,Orphanet,43,ORPHA:43,36,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,[PMID:20301491],y,y +GARD:0005761,Orphanet,98880,ORPHA:98880,7,HP:0000225,Gingival bleeding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005761,Orphanet,98880,ORPHA:98880,7,HP:0000421,Epistaxis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005761,Orphanet,98880,ORPHA:98880,7,HP:0001342,Cerebral hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0005761,Orphanet,98880,ORPHA:98880,7,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005761,Orphanet,98880,ORPHA:98880,7,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005761,Orphanet,98880,ORPHA:98880,7,HP:0005268,Miscarriage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005761,Orphanet,98880,ORPHA:98880,7,HP:0400008,Menometrorrhagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000204,Cleft upper lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000588,Optic disc coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000892,Bifid ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000902,Rib fusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0000921,Missing ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0001012,Multiple lipomas,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0001302,Pachygyria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0001338,Partial agenesis of the corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0002036,Hiatus hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0002126,Polymicrogyria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0002884,Hepatoblastoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0003305,Block vertebrae,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0003316,Butterfly vertebrae,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0005338,Sparse lateral eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0005815,Supernumerary ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0010759,Prominence of the premaxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0011343,Moderate global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0012469,Infantile spasms,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0200008,Intestinal polyposis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005764,Orphanet,50,ORPHA:50,50,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000035,Abnormal testis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000036,Abnormal penis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000140,Abnormality of the menstrual cycle,Frequent (79-30%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000826,Precocious puberty,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000836,Hyperthyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000853,Goiter,Frequent (79-30%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000858,Irregular menstruation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0002684,Thickened calvaria,Occasional (29-5%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0002905,Hyperphosphatemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0003272,Abnormal hip bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0007565,Multiple cafe-au-lait spots,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0010788,Testicular neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0011362,Abnormal hair quantity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0100013,Neoplasm of the breast,Occasional (29-5%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0100031,Neoplasm of the thyroid gland,Occasional (29-5%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0100242,Sarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0100530,Abnormal calcium-phosphate regulating hormone level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005770,Orphanet,457059,ORPHA:457059,35,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000716,Depression,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001355,Megalencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002045,Hypothermia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002169,Clonus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002357,Dysphasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002410,Aqueductal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002445,Tetraplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0007481,Hyperpigmented nevi,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0010535,Sleep apnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0100247,Recurrent singultus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0005774,Orphanet,58,ORPHA:58,61,HP:0100729,Large face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0000024,Prostatitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0000364,Hearing abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0000366,Abnormality of the nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0000592,Blue sclerae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0000787,Nephrolithiasis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0001654,Abnormal heart valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0001717,Coronary artery calcification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0002621,Atherosclerosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0002758,Osteoarthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0004380,Aortic valve calcification,Frequent (79-30%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0004382,Mitral valve calcification,Frequent (79-30%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0004690,Thickened Achilles tendon,Frequent (79-30%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0005645,Intervertebral disk calcification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0100550,Tendon rupture,Frequent (79-30%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0100593,Calcification of cartilage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005775,Orphanet,56,ORPHA:56,30,HP:0100773,Cartilage destruction,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0001259,Coma,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0002191,Progressive spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0002313,Spastic paraparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0002385,Paraparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005783,Orphanet,726,ORPHA:726,19,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0005784,Orphanet,60,ORPHA:60,6,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,,y,y +GARD:0005784,Orphanet,60,ORPHA:60,6,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,,y,y +GARD:0005784,Orphanet,60,ORPHA:60,6,HP:0001399,Hepatic failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005784,Orphanet,60,ORPHA:60,6,HP:0002097,Emphysema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005784,Orphanet,60,ORPHA:60,6,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005784,Orphanet,60,ORPHA:60,6,HP:0012115,Hepatitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0000092,Renal tubular atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0000097,Focal segmental glomerulosclerosis,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0000123,Nephritis,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0000495,Recurrent corneal erosions,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0000608,Macular degeneration,Very rare (<4-1%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0000790,Hematuria,Very frequent (99-80%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0000794,IgA deposition in the glomerulus,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0001679,Abnormal aortic morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0002013,Vomiting,Very rare (<4-1%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0002094,Dyspnea,Very rare (<4-1%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0002837,Recurrent bronchitis,Very rare (<4-1%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0002907,Microscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0004722,Thickened glomerular basement membrane,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0004942,Aortic aneurysm,Very rare (<4-1%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0005576,Tubulointerstitial fibrosis,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0006756,Diffuse leiomyomatosis,Very rare (<4-1%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0007787,Posterior subcapsular cataract,Very rare (<4-1%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0008665,Clitoral hypertrophy,Very rare (<4-1%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0010307,Stridor,Very rare (<4-1%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0011488,Abnormal corneal endothelium morphology,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0011501,Anterior lenticonus,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0012045,Retinal flecks,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0012574,Mesangial hypercellularity,Frequent (79-30%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0012576,Glomerular C3 deposition,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0012577,Thin glomerular basement membrane,Very frequent (99-80%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0012735,Cough,Very rare (<4-1%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0025005,Thickening of glomerular capillary wall,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0030034,Glomerular basement membrane lamellation,Very frequent (99-80%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0032583,Renal glomerular foam cells,Occasional (29-5%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005785,Orphanet,63,ORPHA:63,38,HP:0410019,Epigastric pain,Very rare (<4-1%),TAS,,,,"[PMID:20301386, PMID:27281700, PMID:30128941, PMID:30212818]",y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0000217,Xerostomia,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0000716,Depression,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0002180,Neurodegeneration,Very frequent (99-80%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0002795,Abnormal respiratory system physiology,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0003324,Generalized muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0003470,Paralysis,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0007354,Amyotrophic lateral sclerosis,Obligate (100%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0007373,Motor neuron atrophy,Very frequent (99-80%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0012531,Pain,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0025425,Laryngospasm,Occasional (29-5%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0030192,Fatigable weakness of bulbar muscles,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0030195,Fatigable weakness of swallowing muscles,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005786,Orphanet,803,ORPHA:803,23,HP:0030196,Fatigable weakness of respiratory muscles,Frequent (79-30%),TAS,,,,[PMID:27514291],y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000009,Functional abnormality of the bladder,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000012,Urinary urgency,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000016,Urinary retention,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000099,Glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000230,Gingivitis,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000311,Round face,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000388,Otitis media,Very frequent (99-80%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000408,Progressive sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000543,Optic disc pallor,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000548,Cone/cone-rod dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000556,Retinal dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000798,Oligospermia,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000815,Hypergonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000832,Primary hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000842,Hyperinsulinemia,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000858,Irregular menstruation,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0000956,Acanthosis nigricans,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001395,Hepatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001644,Dilated cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001685,Myocardial fibrosis,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001733,Pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001751,Vestibular dysfunction,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0001956,Truncal obesity,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002040,Esophageal varix,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002213,Fine hair,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002292,Frontal balding,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002311,Incoordination,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002360,Sleep disturbance,Very rare (<4-1%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002480,Hepatic encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002925,Elevated circulating thyroid-stimulating hormone concentration,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0002943,Thoracic scoliosis,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0003077,Hyperlipidemia,Very frequent (99-80%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0003326,Myalgia,Very rare (<4-1%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0004438,Hyperostosis frontalis interna,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0004469,Chronic bronchitis,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0004626,Lumbar scoliosis,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0005616,Accelerated skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0005978,Type II diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0006510,Chronic pulmonary obstruction,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0006532,Recurrent pneumonia,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0007722,Retinal pigment epithelial atrophy,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0007787,Posterior subcapsular cataract,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0008373,Puberty and gonadal disorders,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0008625,Severe sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0009381,Short finger,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0009804,Tooth agenesis,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0009894,Thickened ears,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0010465,Precocious puberty in females,Very rare (<4-1%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0010790,Hyoplasia of the Leydig cells,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0010863,Receptive language delay,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0011073,Abnormality of dental color,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0011108,Recurrent sinusitis,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0011147,Typical absence seizure,Very rare (<4-1%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0011510,Drusen,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0012041,Decreased fertility in males,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0012569,Delayed menarche,Very rare (<4-1%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0012786,Recurrent cystitis,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0012860,Testicular fibrosis,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0025335,Delayed ability to stand,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0025336,Delayed ability to sit,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0025383,Dorsocervical fat pad,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0025488,Detrusor sphincter dyssynergia,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0025496,Abnormal coronary artery physiology,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0030348,Increased circulating androgen concentration,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0030948,Elevated gamma-glutamyltransferase level,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0031507,Decreased circulating T4 level,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0031865,Abnormal liver physiology,Frequent (79-30%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0031936,Delayed ability to walk,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0100518,Dysuria,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005787,Orphanet,64,ORPHA:64,117,HP:0410019,Epigastric pain,Occasional (29-5%),TAS,,,,"[PMID:17940554, PMID:20301444]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0000679,Taurodontia,Occasional (29-5%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0000685,Hypoplasia of teeth,Occasional (29-5%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0000687,Widely spaced teeth,Occasional (29-5%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0005216,Impaired mastication,Frequent (79-30%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0006283,Multiple unerupted teeth,Occasional (29-5%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0006285,Enamel hypomineralization,Frequent (79-30%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0006286,Yellow-brown discoloration of the teeth,Very frequent (99-80%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0009102,Anterior open-bite malocclusion,Frequent (79-30%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0010299,Abnormal dentin morphology,Occasional (29-5%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0011071,Abnormality of permanent molar morphology,Occasional (29-5%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0011073,Abnormality of dental color,Very frequent (99-80%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0011084,Hypocalcification of dental enamel,Frequent (79-30%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0011085,Hypomature dental enamel,Frequent (79-30%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0025124,Fragile teeth,Frequent (79-30%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005791,Orphanet,88661,ORPHA:88661,16,HP:0030791,Abnormal jaw morphology,Occasional (29-5%),TAS,,,,"[PMID:17408482, PMID:27550338]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0000100,Nephrotic syndrome,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0000158,Macroglossia,Very rare (<4-1%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0000217,Xerostomia,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0001609,Hoarse voice,Very rare (<4-1%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0001713,Abnormal cardiac ventricle morphology,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0002239,Gastrointestinal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0002578,Gastroparesis,Very rare (<4-1%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0003115,Abnormal EKG,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0003155,Elevated circulating alkaline phosphatase concentration,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0005120,Abnormal cardiac atrium morphology,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0005307,Postural hypotension with compensatory tachycardia,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0006530,Abnormal pulmonary interstitial morphology,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0008321,Reduced factor X activity,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0008652,Autonomic erectile dysfunction,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0010286,Abnormal salivary gland morphology,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0011024,Abnormality of the gastrointestinal tract,Very rare (<4-1%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0012185,Constrictive median neuropathy,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0012398,Peripheral edema,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0012592,Albuminuria,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0012664,Reduced ejection fraction,Excluded (0%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0025389,Pulmonary interstitial high-resolution computed tomography abnormality,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0030164,Jaw claudication,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0031185,Increased circulating NT-proBNP concentration,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0031246,Nonproductive cough,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0031326,Monoclonal light chain cardiac amyloidosis,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0031595,Abnormal P wave,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0032550,Howell-Jolly bodies,Occasional (29-5%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0032613,Renal interstitial amyloid deposits,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0410173,Increased circulating troponin I concentration,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005797,Orphanet,85443,ORPHA:85443,50,HP:0410174,Increased circulating troponin T concentration,Frequent (79-30%),TAS,,,,"[PMID:30040145, PMID:30299492, PMID:31578202, PMID:32340017]",y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000162,Glossoptosis,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000201,Pierre-Robin sequence,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000336,Prominent supraorbital ridges,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000377,Abnormal pinna morphology,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000674,Anodontia,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000677,Oligodontia,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0001087,Developmental glaucoma,Occasional (29-5%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0001539,Omphalocele,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0001654,Abnormal heart valve morphology,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0002089,Pulmonary hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0002684,Thickened calvaria,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0002738,Hypoplastic frontal sinuses,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0002869,Flared iliac wing,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0002990,Fibular aplasia,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0003042,Elbow dislocation,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0005048,Synostosis of carpal bones,Occasional (29-5%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0005640,Abnormal vertebral segmentation and fusion,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0006000,Ureteral obstruction,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0008368,Tarsal synostosis,Occasional (29-5%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0009702,Carpal synostosis,Occasional (29-5%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0009778,Short thumb,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0010109,Short hallux,Very frequent (99-80%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0011001,Increased bone mineral density,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0100258,Preaxial polydactyly,Occasional (29-5%),TAS,,,,[PMID:20301567],y,y +GARD:0005802,Orphanet,90652,ORPHA:90652,55,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,[PMID:20301567],y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0000008,Abnormal morphology of female internal genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0000033,"Ambiguous genitalia, male",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0000037,Male pseudohermaphroditism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0000130,Abnormality of the uterus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0002215,Sparse axillary hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0002221,Absent axillary hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0002225,Sparse pubic hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0002555,Absent pubic hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0003251,Male infertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0008655,Aplasia/Hypoplasia of the fallopian tube,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0008684,Aplasia/hypoplasia of the uterus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005803,Orphanet,754,ORPHA:754,15,HP:0010788,Testicular neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0005808,Orphanet,1048,ORPHA:1048,2,HP:0002323,Anencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005808,Orphanet,1048,ORPHA:1048,2,HP:0008207,Primary adrenal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000483,Astigmatism,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000563,Keratoconus,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000687,Widely spaced teeth,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000748,Inappropriate laughter,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000752,Hyperactivity,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0000817,Poor eye contact,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0001337,Tremor,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002136,Broad-based gait,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002286,Fair hair,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002465,Poor speech,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0005469,Flat occiput,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0006979,Sleep-wake cycle disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0007266,Cerebral dysmyelination,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0007270,Atypical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0010465,Precocious puberty in females,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0010808,Protruding tongue,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0011024,Abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0012469,Infantile spasms,Very rare (<4-1%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0012569,Delayed menarche,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0040082,Happy demeanor,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0100023,Recurrent hand flapping,Frequent (79-30%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0100703,Tongue thrusting,Occasional (29-5%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005810,Orphanet,72,ORPHA:72,72,HP:0100716,Self-injurious behavior,Very frequent (99-80%),TAS,,,,"[PMID:20301323, PMID:32087041]",y,y +GARD:0005816,Orphanet,250923,ORPHA:250923,7,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0005816,Orphanet,250923,ORPHA:250923,7,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0005816,Orphanet,250923,ORPHA:250923,7,HP:0000526,Aniridia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005816,Orphanet,250923,ORPHA:250923,7,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005816,Orphanet,250923,ORPHA:250923,7,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005816,Orphanet,250923,ORPHA:250923,7,HP:0000659,Peters anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005816,Orphanet,250923,ORPHA:250923,7,HP:0008059,Aplasia/Hypoplasia of the macula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005819,Orphanet,325124,ORPHA:325124,11,HP:0000013,Hypoplasia of the uterus,Frequent (79-30%),TAS,,,,"[PMID:15579790, PMID:17183475, PMID:25905302, PMID:4186283, PMID:9154766]",y,y +GARD:0005819,Orphanet,325124,ORPHA:325124,11,HP:0000042,Absent external genitalia,Very frequent (99-80%),TAS,,,,"[PMID:15579790, PMID:17183475, PMID:25905302, PMID:4186283, PMID:9154766]",y,y +GARD:0005819,Orphanet,325124,ORPHA:325124,11,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:15579790, PMID:17183475, PMID:25905302, PMID:4186283, PMID:9154766]",y,y +GARD:0005819,Orphanet,325124,ORPHA:325124,11,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,"[PMID:15579790, PMID:17183475, PMID:25905302, PMID:4186283, PMID:9154766]",y,y +GARD:0005819,Orphanet,325124,ORPHA:325124,11,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:15579790, PMID:17183475, PMID:25905302, PMID:4186283, PMID:9154766]",y,y +GARD:0005819,Orphanet,325124,ORPHA:325124,11,HP:0008716,Urethrovaginal fistula,Frequent (79-30%),TAS,,,,"[PMID:15579790, PMID:17183475, PMID:25905302, PMID:4186283, PMID:9154766]",y,y +GARD:0005819,Orphanet,325124,ORPHA:325124,11,HP:0010469,Absent testis,Very frequent (99-80%),TAS,,,,"[PMID:15579790, PMID:17183475, PMID:25905302, PMID:4186283, PMID:9154766]",y,y +GARD:0005819,Orphanet,325124,ORPHA:325124,11,HP:0012870,Vanishing testis,Very frequent (99-80%),TAS,,,,"[PMID:15579790, PMID:17183475, PMID:25905302, PMID:4186283, PMID:9154766]",y,y +GARD:0005819,Orphanet,325124,ORPHA:325124,11,HP:0012872,Abnormal vas deferens morphology,Very frequent (99-80%),TAS,,,,"[PMID:15579790, PMID:17183475, PMID:25905302, PMID:4186283, PMID:9154766]",y,y +GARD:0005819,Orphanet,325124,ORPHA:325124,11,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:15579790, PMID:17183475, PMID:25905302, PMID:4186283, PMID:9154766]",y,y +GARD:0005819,Orphanet,325124,ORPHA:325124,11,HP:0100779,Urogenital sinus anomaly,Frequent (79-30%),TAS,,,,"[PMID:15579790, PMID:17183475, PMID:25905302, PMID:4186283, PMID:9154766]",y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000262,Turricephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000270,Delayed cranial suture closure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000453,Choanal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0002980,Femoral bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0003070,Elbow ankylosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0003275,Narrow pelvis bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0009891,Underdeveloped supraorbital ridges,Occasional (29-5%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0012210,Abnormal renal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005826,Orphanet,83,ORPHA:83,30,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0001636,Tetralogy of Fallot,Very rare (<4-1%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0001647,Bicuspid aortic valve,Frequent (79-30%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0001677,Coronary artery atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0002092,Pulmonary arterial hypertension,Very rare (<4-1%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0004383,Hypoplastic left heart,Frequent (79-30%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0005295,Pseudocoarctation of the aorta,Excluded (0%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0005301,Persistent left superior vena cava,Occasional (29-5%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0010883,Aortic valve atresia,Very rare (<4-1%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0011103,Abnormal left ventricular outflow tract morphology,Very frequent (99-80%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0011611,Interrupted aortic arch,Excluded (0%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0011682,Perimembranous ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0012304,Hypoplastic aortic arch,Occasional (29-5%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005828,Orphanet,1457,ORPHA:1457,18,HP:0012305,Coarctation of the descending aortic arch,Obligate (100%),TAS,,,,"[PMID:1018301, PMID:14708093, PMID:15690347, PMID:15712195, PMID:22088486, PMID:23731614, PMID:25634191, PMID:25737506, PMID:26025083, PMID:26100586, PMID:26323199, PMID:28377475, PMID:8487284]",y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000189,Narrow palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000239,Large fontanelles,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000244,Brachyturricephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0001331,Absent septum pellucidum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0002032,Esophageal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0002676,Cloverleaf skull,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0002983,Micromelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0004487,Acrobrachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0004635,Cervical C5/C6 vertebrae fusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0009601,Aplasia/Hypoplasia of the thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0011380,Morphological abnormality of the semicircular canal,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0100615,Ovarian neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0005833,Orphanet,87,ORPHA:87,48,HP:0200020,Corneal erosion,Occasional (29-5%),TAS,,,,,y,y +GARD:0005835,Orphanet,1114,ORPHA:1114,10,HP:0001362,Calvarial skull defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005835,Orphanet,1114,ORPHA:1114,10,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005835,Orphanet,1114,ORPHA:1114,10,HP:0003010,Prolonged bleeding time,Occasional (29-5%),TAS,,,,,y,y +GARD:0005835,Orphanet,1114,ORPHA:1114,10,HP:0004348,Abnormality of bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0005835,Orphanet,1114,ORPHA:1114,10,HP:0004471,Aplasia cutis congenita over the scalp vertex,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005835,Orphanet,1114,ORPHA:1114,10,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005835,Orphanet,1114,ORPHA:1114,10,HP:0007383,Congenital localized absence of skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005835,Orphanet,1114,ORPHA:1114,10,HP:0010301,Spinal dysraphism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005835,Orphanet,1114,ORPHA:1114,10,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005835,Orphanet,1114,ORPHA:1114,10,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0005836,Orphanet,88,ORPHA:88,12,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,"[PMID:17214739, PMID:24424170, PMID:24790407]",y,y +GARD:0005836,Orphanet,88,ORPHA:88,12,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:17214739, PMID:24424170, PMID:24790407]",y,y +GARD:0005836,Orphanet,88,ORPHA:88,12,HP:0000573,Retinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:17214739, PMID:24424170, PMID:24790407]",y,y +GARD:0005836,Orphanet,88,ORPHA:88,12,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:17214739, PMID:24424170, PMID:24790407]",y,y +GARD:0005836,Orphanet,88,ORPHA:88,12,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:17214739, PMID:24424170, PMID:24790407]",y,y +GARD:0005836,Orphanet,88,ORPHA:88,12,HP:0001876,Pancytopenia,Frequent (79-30%),TAS,,,,"[PMID:17214739, PMID:24424170, PMID:24790407]",y,y +GARD:0005836,Orphanet,88,ORPHA:88,12,HP:0001896,Reticulocytopenia,Frequent (79-30%),TAS,,,,"[PMID:17214739, PMID:24424170, PMID:24790407]",y,y +GARD:0005836,Orphanet,88,ORPHA:88,12,HP:0001903,Anemia,Obligate (100%),TAS,,,,"[PMID:17214739, PMID:24424170, PMID:24790407]",y,y +GARD:0005836,Orphanet,88,ORPHA:88,12,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:17214739, PMID:24424170, PMID:24790407]",y,y +GARD:0005836,Orphanet,88,ORPHA:88,12,HP:0005528,Bone marrow hypocellularity,Very frequent (99-80%),TAS,,,,"[PMID:17214739, PMID:24424170, PMID:24790407]",y,y +GARD:0005836,Orphanet,88,ORPHA:88,12,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:17214739, PMID:24424170, PMID:24790407]",y,y +GARD:0005836,Orphanet,88,ORPHA:88,12,HP:0031364,Ecchymosis,Occasional (29-5%),TAS,,,,"[PMID:17214739, PMID:24424170, PMID:24790407]",y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0000360,Tinnitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0000763,Sensory neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0000970,Anhidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0001287,Meningitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,,y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0002839,Urinary bladder sphincter dysfunction,Occasional (29-5%),TAS,,,,,y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005839,Orphanet,137817,ORPHA:137817,15,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0005840,Orphanet,90,ORPHA:90,10,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005840,Orphanet,90,ORPHA:90,10,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005840,Orphanet,90,ORPHA:90,10,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005840,Orphanet,90,ORPHA:90,10,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005840,Orphanet,90,ORPHA:90,10,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005840,Orphanet,90,ORPHA:90,10,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0005840,Orphanet,90,ORPHA:90,10,HP:0002478,Progressive spastic quadriplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005840,Orphanet,90,ORPHA:90,10,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005840,Orphanet,90,ORPHA:90,10,HP:0008339,Diaminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005840,Orphanet,90,ORPHA:90,10,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005843,Orphanet,23,ORPHA:23,11,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0005843,Orphanet,23,ORPHA:23,11,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005843,Orphanet,23,ORPHA:23,11,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005843,Orphanet,23,ORPHA:23,11,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0005843,Orphanet,23,ORPHA:23,11,HP:0003217,Hyperglutaminemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005843,Orphanet,23,ORPHA:23,11,HP:0003218,Oroticaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005843,Orphanet,23,ORPHA:23,11,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005843,Orphanet,23,ORPHA:23,11,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005843,Orphanet,23,ORPHA:23,11,HP:0005961,Hypoargininemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005843,Orphanet,23,ORPHA:23,11,HP:0009886,Trichorrhexis nodosa,Occasional (29-5%),TAS,,,,,y,y +GARD:0005843,Orphanet,23,ORPHA:23,11,HP:0011362,Abnormal hair quantity,Occasional (29-5%),TAS,,,,,y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0000969,Edema,Very rare (<4-1%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0001648,Cor pulmonale,Occasional (29-5%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0001685,Myocardial fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0001708,Right ventricular failure,Occasional (29-5%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0002086,Abnormality of the respiratory system,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0002207,Diffuse reticular or finely nodular infiltrations,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0002792,Reduced vital capacity,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0006530,Abnormal pulmonary interstitial morphology,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0012418,Hypoxemia,Occasional (29-5%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0025179,Ground-glass opacification,Occasional (29-5%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0030078,Lung adenocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0030828,Wheezing,Occasional (29-5%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0030849,Hepatojugular reflux,Occasional (29-5%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0030874,Oxygen desaturation on exertion,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0030879,Interlobular septal thickening,Occasional (29-5%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0031246,Nonproductive cough,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0031352,Chest tightness,Occasional (29-5%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0031631,Subpleural honeycombing,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0031944,Pleural thickening,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0031998,Late inspiratory crackles,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0032016,Abnormal sputum,Occasional (29-5%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0032341,Reduced forced vital capacity,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0045051,Decreased DLCO,Frequent (79-30%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0100001,Malignant mesothelioma,Very rare (<4-1%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0100721,Mediastinal lymphadenopathy,Very rare (<4-1%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0100750,Atelectasis,Very rare (<4-1%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005852,Orphanet,2302,ORPHA:2302,35,HP:0100759,Clubbing of fingers,Occasional (29-5%),TAS,,,,"[PMID:21281828, PMID:30753424, PMID:9012357]",y,y +GARD:0005853,Orphanet,137686,ORPHA:137686,11,HP:0000140,Abnormality of the menstrual cycle,Frequent (79-30%),TAS,,,,"[PMID:28846336, PMID:29493709, PMID:30713131, PMID:30936754]",y,y +GARD:0005853,Orphanet,137686,ORPHA:137686,11,HP:0000789,Infertility,Occasional (29-5%),TAS,,,,"[PMID:28846336, PMID:29493709, PMID:30713131, PMID:30936754]",y,y +GARD:0005853,Orphanet,137686,ORPHA:137686,11,HP:0000868,Decreased fertility in females,Frequent (79-30%),TAS,,,,"[PMID:28846336, PMID:29493709, PMID:30713131, PMID:30936754]",y,y +GARD:0005853,Orphanet,137686,ORPHA:137686,11,HP:0000869,Secondary amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:28846336, PMID:29493709, PMID:30713131, PMID:30936754]",y,y +GARD:0005853,Orphanet,137686,ORPHA:137686,11,HP:0000876,Oligomenorrhea,Frequent (79-30%),TAS,,,,"[PMID:28846336, PMID:29493709, PMID:30713131, PMID:30936754]",y,y +GARD:0005853,Orphanet,137686,ORPHA:137686,11,HP:0002574,Episodic abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:28846336, PMID:29493709, PMID:30713131, PMID:30936754]",y,y +GARD:0005853,Orphanet,137686,ORPHA:137686,11,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,"[PMID:28846336, PMID:29493709, PMID:30713131, PMID:30936754]",y,y +GARD:0005853,Orphanet,137686,ORPHA:137686,11,HP:0031035,Chronic infection,Very rare (<4-1%),TAS,,,,"[PMID:28846336, PMID:29493709, PMID:30713131, PMID:30936754]",y,y +GARD:0005853,Orphanet,137686,ORPHA:137686,11,HP:0100607,Dysmenorrhea,Occasional (29-5%),TAS,,,,"[PMID:28846336, PMID:29493709, PMID:30713131, PMID:30936754]",y,y +GARD:0005853,Orphanet,137686,ORPHA:137686,11,HP:0100608,Metrorrhagia,Occasional (29-5%),TAS,,,,"[PMID:28846336, PMID:29493709, PMID:30713131, PMID:30936754]",y,y +GARD:0005853,Orphanet,137686,ORPHA:137686,11,HP:0100767,Abnormal placenta morphology,Very rare (<4-1%),TAS,,,,"[PMID:28846336, PMID:29493709, PMID:30713131, PMID:30936754]",y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0000053,Macroorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0000389,Chronic otitis media,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0002684,Thickened calvaria,Frequent (79-30%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0002997,Abnormality of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0003103,Abnormal cortical bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0004337,Abnormality of amino acid metabolism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0004568,Beaking of vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0008430,Anterior beaking of lumbar vertebrae,Frequent (79-30%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0011276,Vascular skin abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0012068,Aspartylglucosaminuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0012471,Thick vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0100660,Dyskinesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005854,Orphanet,93,ORPHA:93,43,HP:0100729,Large face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0000246,Sinusitis,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0000491,Keratitis,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0000620,Dacryocystitis,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0000629,Periorbital fullness,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0000772,Abnormal rib morphology,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0000925,Abnormality of the vertebral column,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0001287,Meningitis,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0001742,Nasal congestion,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0001880,Eosinophilia,Frequent (79-30%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002031,Abnormal esophagus morphology,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002102,Pleuritis,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002105,Hemoptysis,Frequent (79-30%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002110,Bronchiectasis,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002113,Pulmonary infiltrates,Frequent (79-30%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002170,Intracranial hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002202,Pleural effusion,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002207,Diffuse reticular or finely nodular infiltrations,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002383,Infectious encephalitis,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002693,Abnormality of the skull base,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0002754,Osteomyelitis,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0003212,Increased circulating IgE level,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0004302,Functional motor deficit,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0004377,Hematological neoplasm,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0005607,Abnormal tracheobronchial morphology,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0006510,Chronic pulmonary obstruction,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0006516,Hypersensitivity pneumonitis,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0006528,Chronic lung disease,Frequent (79-30%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0011314,Abnormality of long bone morphology,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0011355,Localized skin lesion,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0011450,Unusual CNS infection,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0011531,Vitritis,Very rare (<4-1%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0020103,Invasive pulmonary aspergillosis,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0020153,"Positive blood 1,3 beta glucan test",Very frequent (99-80%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0025179,Ground-glass opacification,Frequent (79-30%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0030878,Abnormality on pulmonary function testing,Frequent (79-30%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0031417,Rhinorrhea,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0032016,Abnormal sputum,Frequent (79-30%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0032177,Parenchymal consolidation,Frequent (79-30%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0100326,Immunologic hypersensitivity,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005856,Orphanet,1163,ORPHA:1163,56,HP:0200026,Ocular pain,Occasional (29-5%),TAS,,,,"[PMID:21881144, PMID:26897064]",y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0000035,Abnormal testis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0000147,Polycystic ovaries,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0000496,Abnormality of eye movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0001337,Tremor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0001888,Lymphopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0002664,Neoplasm,Frequent (79-30%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0002715,Abnormality of the immune system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0003220,Abnormality of chromosome stability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0005374,Cellular immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0007565,Multiple cafe-au-lait spots,Occasional (29-5%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0008065,Aplasia/Hypoplasia of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0010515,Aplasia/Hypoplasia of the thymus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0100579,Mucosal telangiectasiae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005862,Orphanet,100,ORPHA:100,37,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000037,Male pseudohermaphroditism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000716,Depression,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0000717,Autism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0001258,Spastic paraplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0002580,Volvulus,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0010461,Abnormality of the male genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0010806,U-Shaped upper lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0011328,Abnormality of fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0011902,Abnormal hemoglobin,Frequent (79-30%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0012736,Profound global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,,y,y +GARD:0005864,Orphanet,847,ORPHA:847,57,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0000961,Cyanosis,Very rare (<4-1%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0001279,Syncope,Very rare (<4-1%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0001708,Right ventricular failure,Very rare (<4-1%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0002090,Pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0002326,Transient ischemic attack,Very rare (<4-1%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0002718,Recurrent bacterial infections,Very rare (<4-1%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0004749,Atrial flutter,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0004755,Supraventricular tachycardia,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0005110,Atrial fibrillation,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0005115,Supraventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0005133,Right ventricular dilatation,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0005162,Abnormal left ventricular function,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0005317,Increased pulmonary vascular resistance,Very rare (<4-1%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0005957,Breathing dysregulation,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0006536,Airway obstruction,Very rare (<4-1%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0011705,First degree atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0011710,Bundle branch block,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0012250,ST segment depression,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0012382,Left-to-right shunt,Very frequent (99-80%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0012764,Orthopnea,Occasional (29-5%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0030718,Right atrial enlargement,Frequent (79-30%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005865,Orphanet,99103,ORPHA:99103,35,HP:0031664,Systolic heart murmur,Frequent (79-30%),TAS,,,,"[PMID:21505579, PMID:29250321, PMID:30305954, PMID:30571061, PMID:30799379]",y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0001878,Hemolytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0001881,Abnormal leukocyte morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0002665,Lymphoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0012086,Abnormal urinary color,Occasional (29-5%),TAS,,,,,y,y +GARD:0005870,Orphanet,98375,ORPHA:98375,16,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0000099,Glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0001402,Hepatocellular carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0002037,Inflammation of the large intestine,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0003237,Increased circulating IgG level,Obligate (100%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0003262,Smooth muscle antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0003453,Antineutrophil antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0003493,Antinuclear antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0003573,Increased total bilirubin,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0004787,Fulminant hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0006555,Diffuse hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0006562,Viral hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0010702,Increased circulating antibody level,Obligate (100%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0012432,Chronic fatigue,Frequent (79-30%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0012522,Spider hemangioma,Frequent (79-30%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0030908,Liver kidney microsome type 1 antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0030909,Anti-liver cytosolic antigen type 1 antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0030991,Sclerosing cholangitis,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0100279,Ulcerative colitis,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0100646,Thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005871,Orphanet,2137,ORPHA:2137,32,HP:0200119,Acute hepatitis,Occasional (29-5%),TAS,,,,"[PMID:25920079, PMID:28432836, PMID:28882739, PMID:30671977]",y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0000716,Depression,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0001259,Coma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0001864,Clinodactyly of the 5th toe,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0001878,Hemolytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0005521,Disseminated intravascular coagulation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0100724,Hypercoagulability,Occasional (29-5%),TAS,,,,,y,y +GARD:0005878,Orphanet,108,ORPHA:108,31,HP:0100776,Recurrent pharyngitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0000189,Narrow palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0000587,Abnormality of the optic nerve,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0000872,Hashimoto thyroiditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0001009,Telangiectasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0001933,Subcutaneous hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0002250,Abnormal large intestine morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0002858,Meningioma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0002890,Thyroid carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0003764,Nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0004390,Hamartomatous polyposis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0005306,Capillary hemangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0007565,Multiple cafe-au-lait spots,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0009023,Abdominal wall muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0010784,Uterine neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0012032,Lipoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0100013,Neoplasm of the breast,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0100026,Arteriovenous malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0100641,Neoplasm of the adrenal cortex,Occasional (29-5%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0100761,Visceral angiomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005887,Orphanet,109,ORPHA:109,55,HP:0200008,Intestinal polyposis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005890,Orphanet,111,ORPHA:111,4,HP:0001644,Dilated cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005890,Orphanet,111,ORPHA:111,4,HP:0001706,Endocardial fibroelastosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005890,Orphanet,111,ORPHA:111,4,HP:0001874,Abnormality of neutrophils,Frequent (79-30%),TAS,,,,,y,y +GARD:0005890,Orphanet,111,ORPHA:111,4,HP:0008322,Abnormal mitochondrial morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005893,Orphanet,112,ORPHA:112,2,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005893,Orphanet,112,ORPHA:112,2,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0001083,Ectopia lentis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0001519,Disproportionate tall stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0001533,Slender build,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0002247,Duodenal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0002803,Congenital contracture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0003011,Abnormality of the musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0008453,Congenital kyphoscoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0008544,Abnormally folded helix,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0009901,Crumpled ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005899,Orphanet,115,ORPHA:115,21,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0002527,Falls,Frequent (79-30%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0002814,Abnormality of the lower limb,Frequent (79-30%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0002913,Myoglobinuria,Very frequent (99-80%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0003546,Exercise intolerance,Very frequent (99-80%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0003551,Difficulty climbing stairs,Very frequent (99-80%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0012086,Abnormal urinary color,Very frequent (99-80%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005900,Orphanet,98895,ORPHA:98895,16,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:19396825, PMID:23667215]",y,y +GARD:0005913,Orphanet,46486,ORPHA:46486,7,HP:0000230,Gingivitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005913,Orphanet,46486,ORPHA:46486,7,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,,y,y +GARD:0005913,Orphanet,46486,ORPHA:46486,7,HP:0000987,Atypical scarring of skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0005913,Orphanet,46486,ORPHA:46486,7,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005913,Orphanet,46486,ORPHA:46486,7,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0005913,Orphanet,46486,ORPHA:46486,7,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0005913,Orphanet,46486,ORPHA:46486,7,HP:0200097,Oral mucosal blisters,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0000532,Abnormal chorioretinal morphology,Very frequent (99-80%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0000543,Optic disc pallor,Frequent (79-30%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0000610,Abnormal choroid morphology,Very frequent (99-80%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0007843,Attenuation of retinal blood vessels,Frequent (79-30%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0007906,Ocular hypertension,Very frequent (99-80%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0008046,Abnormal retinal vascular morphology,Very frequent (99-80%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0011505,Cystoid macular edema,Very frequent (99-80%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0011506,Choroidal neovascularization,Occasional (29-5%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0011508,Macular hole,Frequent (79-30%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0011531,Vitritis,Very frequent (99-80%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0030329,Retinal thinning,Frequent (79-30%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0030530,Arcuate scotoma,Occasional (29-5%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0030609,Photoreceptor layer loss on macular OCT,Very frequent (99-80%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0030644,Blind-spot enlargment,Frequent (79-30%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0100014,Epiretinal membrane,Frequent (79-30%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0100533,Inflammatory abnormality of the eye,Frequent (79-30%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0100832,Vitreous floaters,Frequent (79-30%),TAS,,,,[PMID:27847627],y,y +GARD:0005926,Orphanet,179,ORPHA:179,23,HP:0200056,Macular scar,Frequent (79-30%),TAS,,,,[PMID:27847627],y,y +GARD:0005939,Orphanet,94086,ORPHA:94086,12,HP:0000121,Nephrocalcinosis,Frequent (79-30%),TAS,,,,"[PMID:14246093, PMID:29610180]",y,y +GARD:0005939,Orphanet,94086,ORPHA:94086,12,HP:0001942,Metabolic acidosis,Occasional (29-5%),TAS,,,,"[PMID:14246093, PMID:29610180]",y,y +GARD:0005939,Orphanet,94086,ORPHA:94086,12,HP:0001988,Recurrent hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:14246093, PMID:29610180]",y,y +GARD:0005939,Orphanet,94086,ORPHA:94086,12,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:14246093, PMID:29610180]",y,y +GARD:0005939,Orphanet,94086,ORPHA:94086,12,HP:0002905,Hyperphosphatemia,Occasional (29-5%),TAS,,,,"[PMID:14246093, PMID:29610180]",y,y +GARD:0005939,Orphanet,94086,ORPHA:94086,12,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:14246093, PMID:29610180]",y,y +GARD:0005939,Orphanet,94086,ORPHA:94086,12,HP:0002925,Elevated circulating thyroid-stimulating hormone concentration,Occasional (29-5%),TAS,,,,"[PMID:14246093, PMID:29610180]",y,y +GARD:0005939,Orphanet,94086,ORPHA:94086,12,HP:0003072,Hypercalcemia,Frequent (79-30%),TAS,,,,"[PMID:14246093, PMID:29610180]",y,y +GARD:0005939,Orphanet,94086,ORPHA:94086,12,HP:0004324,Increased body weight,Frequent (79-30%),TAS,,,,"[PMID:14246093, PMID:29610180]",y,y +GARD:0005939,Orphanet,94086,ORPHA:94086,12,HP:0031507,Decreased circulating T4 level,Occasional (29-5%),TAS,,,,"[PMID:14246093, PMID:29610180]",y,y +GARD:0005939,Orphanet,94086,ORPHA:94086,12,HP:0031883,Increased proinsulin:insulin ratio,Occasional (29-5%),TAS,,,,"[PMID:14246093, PMID:29610180]",y,y +GARD:0005939,Orphanet,94086,ORPHA:94086,12,HP:0040317,Blue urine,Very frequent (99-80%),TAS,,,,"[PMID:14246093, PMID:29610180]",y,y +GARD:0005940,Orphanet,1059,ORPHA:1059,13,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005940,Orphanet,1059,ORPHA:1059,13,HP:0001048,Cavernous hemangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005940,Orphanet,1059,ORPHA:1059,13,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,,y,y +GARD:0005940,Orphanet,1059,ORPHA:1059,13,HP:0001928,Abnormality of coagulation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005940,Orphanet,1059,ORPHA:1059,13,HP:0001935,Microcytic anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005940,Orphanet,1059,ORPHA:1059,13,HP:0002580,Volvulus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005940,Orphanet,1059,ORPHA:1059,13,HP:0002584,Intestinal bleeding,Frequent (79-30%),TAS,,,,,y,y +GARD:0005940,Orphanet,1059,ORPHA:1059,13,HP:0002597,Abnormality of the vasculature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005940,Orphanet,1059,ORPHA:1059,13,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005940,Orphanet,1059,ORPHA:1059,13,HP:0003010,Prolonged bleeding time,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005940,Orphanet,1059,ORPHA:1059,13,HP:0005244,Gastrointestinal infarctions,Occasional (29-5%),TAS,,,,,y,y +GARD:0005940,Orphanet,1059,ORPHA:1059,13,HP:0100026,Arteriovenous malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005940,Orphanet,1059,ORPHA:1059,13,HP:0100761,Visceral angiomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0001522,Death in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0001838,Rocker bottom foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0008846,Severe intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0008850,Severe postnatal growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0005950,Orphanet,1270,ORPHA:1270,20,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0002110,Bronchiectasis,Occasional (29-5%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0006536,Airway obstruction,Very frequent (99-80%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0011946,Bronchiolitis obliterans,Very frequent (99-80%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0011947,Respiratory tract infection,Frequent (79-30%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0012418,Hypoxemia,Very frequent (99-80%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0025179,Ground-glass opacification,Very rare (<4-1%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0030877,Reduced FEV1/FVC ratio,Very frequent (99-80%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0031246,Nonproductive cough,Frequent (79-30%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0032341,Reduced forced vital capacity,Very frequent (99-80%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0032342,Reduced forced expiratory volume in one second,Very frequent (99-80%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0032359,Decreased forced expiratory flow 25-75%,Very frequent (99-80%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005961,Orphanet,1303,ORPHA:1303,16,HP:0045051,Decreased DLCO,Frequent (79-30%),TAS,,,,"[PMID:24806161, PMID:26335918, PMID:30038355]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0001667,Right ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0001708,Right ventricular failure,Frequent (79-30%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0002088,Abnormal lung morphology,Very frequent (99-80%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0002097,Emphysema,Very frequent (99-80%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0002786,Tracheobronchomalacia,Occasional (29-5%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0002795,Abnormal respiratory system physiology,Frequent (79-30%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0002871,Central apnea,Frequent (79-30%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0004887,Respiratory failure requiring assisted ventilation,Very frequent (99-80%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0006528,Chronic lung disease,Very frequent (99-80%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0006597,Diaphragmatic paralysis,Frequent (79-30%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0012252,Abnormal respiratory system morphology,Frequent (79-30%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0012419,Hyperoxemia,Very frequent (99-80%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0030828,Wheezing,Frequent (79-30%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0100632,Pulmonary sequestration,Occasional (29-5%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005962,Orphanet,70589,ORPHA:70589,22,HP:0100750,Atelectasis,Occasional (29-5%),TAS,,,,"[PMID:26593076, PMID:26593086, PMID:27806990, PMID:28067830, PMID:28090255]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0000031,Epididymitis,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0000099,Glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0000708,Behavioral abnormality,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0000951,Abnormality of the skin,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001392,Abnormality of the liver,Very frequent (99-80%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001626,Abnormality of the cardiovascular system,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001646,Abnormal aortic valve morphology,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001701,Pericarditis,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001894,Thrombocytosis,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001971,Hypersplenism,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002011,Morphological central nervous system abnormality,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002072,Chorea,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002326,Transient ischemic attack,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002383,Infectious encephalitis,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0002923,Rheumatoid factor positive,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0003095,Septic arthritis,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0003237,Increased circulating IgG level,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0003496,Increased circulating IgM level,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0004418,Thrombophlebitis,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0005086,Knee osteoarthritis,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0005561,Abnormality of bone marrow cell morphology,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0008843,Hip osteoarthritis,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0011024,Abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0012089,Arteritis,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0012122,Anterior uveitis,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0012252,Abnormal respiratory system morphology,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0012317,Sacroiliac arthritis,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0012387,Bronchitis,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0012424,Chorioretinitis,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0012819,Myocarditis,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0025044,Lung abscess,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0025155,Abnormality of hepatobiliary system physiology,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0025245,Cutaneous cyst,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0025406,Asthenia,Frequent (79-30%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0030250,Pulmonary granulomatosis,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0030350,Erythematous papule,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0031910,Abnormal cranial nerve physiology,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0032252,Granuloma,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0032620,Intrarenal abscess,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0100326,Immunologic hypersensitivity,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0100523,Liver abscess,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0100584,Endocarditis,Very rare (<4-1%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0100796,Orchitis,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005966,Orphanet,1304,ORPHA:1304,77,HP:0410008,Abnormality of the peripheral nervous system,Occasional (29-5%),TAS,,,,"[PMID:18045560, PMID:29610436]",y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0001082,Cholecystitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0001394,Cirrhosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0001409,Portal hypertension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0001541,Ascites,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0002040,Esophageal varix,Frequent (79-30%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0002586,Peritonitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0005244,Gastrointestinal infarctions,Occasional (29-5%),TAS,,,,,y,y +GARD:0005968,Orphanet,131,ORPHA:131,18,HP:0006554,Acute hepatic failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005969,Orphanet,36258,ORPHA:36258,10,HP:0000763,Sensory neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005969,Orphanet,36258,ORPHA:36258,10,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0005969,Orphanet,36258,ORPHA:36258,10,HP:0001063,Acrocyanosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005969,Orphanet,36258,ORPHA:36258,10,HP:0002633,Vasculitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005969,Orphanet,36258,ORPHA:36258,10,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005969,Orphanet,36258,ORPHA:36258,10,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005969,Orphanet,36258,ORPHA:36258,10,HP:0004420,Arterial thrombosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005969,Orphanet,36258,ORPHA:36258,10,HP:0100758,Gangrene,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005969,Orphanet,36258,ORPHA:36258,10,HP:0100785,Insomnia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005969,Orphanet,36258,ORPHA:36258,10,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005972,Orphanet,703,ORPHA:703,10,HP:0000819,Diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005972,Orphanet,703,ORPHA:703,10,HP:0000964,Eczema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005972,Orphanet,703,ORPHA:703,10,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005972,Orphanet,703,ORPHA:703,10,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005972,Orphanet,703,ORPHA:703,10,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005972,Orphanet,703,ORPHA:703,10,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005972,Orphanet,703,ORPHA:703,10,HP:0003765,Psoriasiform dermatitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0005972,Orphanet,703,ORPHA:703,10,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005972,Orphanet,703,ORPHA:703,10,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005972,Orphanet,703,ORPHA:703,10,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005973,Orphanet,543,ORPHA:543,14,HP:0000137,Abnormality of the ovary,Occasional (29-5%),TAS,,,,,y,y +GARD:0005973,Orphanet,543,ORPHA:543,14,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,,y,y +GARD:0005973,Orphanet,543,ORPHA:543,14,HP:0001732,Abnormality of the pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0005973,Orphanet,543,ORPHA:543,14,HP:0001743,Abnormality of the spleen,Occasional (29-5%),TAS,,,,,y,y +GARD:0005973,Orphanet,543,ORPHA:543,14,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0005973,Orphanet,543,ORPHA:543,14,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0005973,Orphanet,543,ORPHA:543,14,HP:0002149,Hyperuricemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005973,Orphanet,543,ORPHA:543,14,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0005973,Orphanet,543,ORPHA:543,14,HP:0002733,Abnormality of the lymph nodes,Occasional (29-5%),TAS,,,,,y,y +GARD:0005973,Orphanet,543,ORPHA:543,14,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0005973,Orphanet,543,ORPHA:543,14,HP:0005407,Decreased proportion of CD4-positive helper T cells,Occasional (29-5%),TAS,,,,,y,y +GARD:0005973,Orphanet,543,ORPHA:543,14,HP:0005561,Abnormality of bone marrow cell morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005973,Orphanet,543,ORPHA:543,14,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0005973,Orphanet,543,ORPHA:543,14,HP:0100649,Neoplasm of the oral cavity,Frequent (79-30%),TAS,,,,,y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0000168,Abnormality of the gingiva,Occasional (29-5%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0000217,Xerostomia,Occasional (29-5%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0000223,Abnormality of taste sensation,Frequent (79-30%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0007377,Abnormality of somatosensory evoked potentials,Occasional (29-5%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0010298,Smooth tongue,Occasional (29-5%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0010824,Abnormal fifth cranial nerve morphology,Occasional (29-5%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0012534,Dysesthesia,Occasional (29-5%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0030811,Tongue pain,Occasional (29-5%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0031042,Strawberry tongue,Occasional (29-5%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0031249,Parageusia,Frequent (79-30%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005974,Orphanet,353253,ORPHA:353253,17,HP:0032143,Burning mouth,Very frequent (99-80%),TAS,,,,"[PMID:27207008, PMID:29257770, PMID:30603879, PMID:32352482]",y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000191,Accessory oral frenulum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000243,Trigonocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0000960,Sacral dimple,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0001582,Redundant skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0001883,Talipes,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0002983,Micromelia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0003083,Dislocated radial head,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0004378,Abnormality of the anus,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0004422,Biparietal narrowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0007601,Midline facial capillary hemangioma,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0010458,Female pseudohermaphroditism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0010720,Abnormal hair pattern,Occasional (29-5%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0010978,Abnormality of immune system physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0005978,Orphanet,1308,ORPHA:1308,54,HP:0100720,Hypoplasia of the ear cartilage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005980,Orphanet,280062,ORPHA:280062,12,HP:0000867,Secondary hyperparathyroidism,Very frequent (99-80%),TAS,,,,[PMID:9426423],y,y +GARD:0005980,Orphanet,280062,ORPHA:280062,12,HP:0000965,Cutis marmorata,Very frequent (99-80%),TAS,,,,[PMID:9426423],y,y +GARD:0005980,Orphanet,280062,ORPHA:280062,12,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,[PMID:9426423],y,y +GARD:0005980,Orphanet,280062,ORPHA:280062,12,HP:0002905,Hyperphosphatemia,Very frequent (99-80%),TAS,,,,[PMID:9426423],y,y +GARD:0005980,Orphanet,280062,ORPHA:280062,12,HP:0003207,Arterial calcification,Very frequent (99-80%),TAS,,,,[PMID:9426423],y,y +GARD:0005980,Orphanet,280062,ORPHA:280062,12,HP:0003774,Stage 5 chronic kidney disease,Very frequent (99-80%),TAS,,,,[PMID:9426423],y,y +GARD:0005980,Orphanet,280062,ORPHA:280062,12,HP:0011122,Abnormality of skin physiology,Very frequent (99-80%),TAS,,,,[PMID:9426423],y,y +GARD:0005980,Orphanet,280062,ORPHA:280062,12,HP:0011986,Ectopic ossification,Very frequent (99-80%),TAS,,,,[PMID:9426423],y,y +GARD:0005980,Orphanet,280062,ORPHA:280062,12,HP:0100658,Cellulitis,Very frequent (99-80%),TAS,,,,[PMID:9426423],y,y +GARD:0005980,Orphanet,280062,ORPHA:280062,12,HP:0100758,Gangrene,Very frequent (99-80%),TAS,,,,[PMID:9426423],y,y +GARD:0005980,Orphanet,280062,ORPHA:280062,12,HP:0100806,Sepsis,Very frequent (99-80%),TAS,,,,[PMID:9426423],y,y +GARD:0005980,Orphanet,280062,ORPHA:280062,12,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,[PMID:9426423],y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0000618,Blindness,Frequent (79-30%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0000649,Abnormality of visual evoked potentials,Frequent (79-30%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0004372,Reduced consciousness/confusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005984,Orphanet,141,ORPHA:141,18,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0001708,Right ventricular failure,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0002605,Hepatic necrosis,Very rare (<4-1%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0002668,Paraganglioma,Very rare (<4-1%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0002730,Chronic noninfectious lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0003144,Increased serum serotonin,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0003198,Myopathy,Very rare (<4-1%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0004385,Protracted diarrhea,Frequent (79-30%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0006722,Small intestine carcinoid,Frequent (79-30%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0006723,Intestinal carcinoid,Frequent (79-30%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0007380,Facial telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0009926,Epiphora,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0025428,Bronchospasm,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0025474,Erythematous plaque,Frequent (79-30%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0030145,Lack of bowel sounds,Very rare (<4-1%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0030148,Heart murmur,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0030166,Night sweats,Frequent (79-30%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0030445,Pulmonary carcinoid tumor,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0030446,Atypical pulmonary carcinoid tumor,Very rare (<4-1%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0031138,Abnormal B-type natriuretic peptide level,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0031417,Rhinorrhea,Occasional (29-5%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0005994,Orphanet,100093,ORPHA:100093,27,HP:0100570,Carcinoid tumor,Obligate (100%),TAS,,,,"[PMID:10925383, PMID:12007193, PMID:22052063, PMID:25376364, PMID:25865046, PMID:2920654, PMID:5936207]",y,y +GARD:0006001,Orphanet,1361,ORPHA:1361,5,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006001,Orphanet,1361,ORPHA:1361,5,HP:0002123,Generalized myoclonic seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006001,Orphanet,1361,ORPHA:1361,5,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006001,Orphanet,1361,ORPHA:1361,5,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006001,Orphanet,1361,ORPHA:1361,5,HP:0003167,Carnosinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0000113,Polycystic kidney dysplasia,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0001395,Hepatic fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0001396,Cholestasis,Very frequent (99-80%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0001405,Periportal fibrosis,Excluded (0%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0001406,Intrahepatic cholestasis,Frequent (79-30%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0001409,Portal hypertension,Very rare (<4-1%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0002040,Esophageal varix,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0002613,Biliary cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0002908,Conjugated hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0030151,Cholangitis,Frequent (79-30%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0030153,Cholangiocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0030948,Elevated gamma-glutamyltransferase level,Frequent (79-30%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0031964,Elevated circulating alanine aminotransferase concentration,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0032106,Conjunctival icterus,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0032545,Abdominal rigidity,Occasional (29-5%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0045056,Abnormal levels of alpha-fetoprotein,Excluded (0%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006002,Orphanet,53035,ORPHA:53035,33,HP:0100523,Liver abscess,Very rare (<4-1%),TAS,,,,"[PMID:22908976, PMID:30020679]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0000262,Turricephaly,Frequent (79-30%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0000263,Oxycephaly,Very frequent (99-80%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0000481,Abnormal cornea morphology,Frequent (79-30%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0001156,Brachydactyly,Obligate (100%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0001159,Syndactyly,Very frequent (99-80%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0001748,Polysplenia,Occasional (29-5%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0001770,Toe syndactyly,Obligate (100%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0001841,Preaxial foot polydactyly,Frequent (79-30%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0002676,Cloverleaf skull,Frequent (79-30%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0003241,External genital hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0006101,Finger syndactyly,Obligate (100%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0010442,Polydactyly,Very frequent (99-80%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0012243,Abnormal reproductive system morphology,Frequent (79-30%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006003,Orphanet,65759,ORPHA:65759,26,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,"[PMID:15129947, PMID:20358613]",y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0000069,Abnormality of the ureter,Frequent (79-30%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0000073,Ureteral duplication,Frequent (79-30%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0000086,Ectopic kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0000104,Renal agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0000921,Missing ribs,Occasional (29-5%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0002139,Arrhinencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0002607,Bowel incontinence,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0003199,Decreased muscle mass,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0005640,Abnormal vertebral segmentation and fusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0008479,Hypoplastic vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0008517,Aplasia/Hypoplasia of the sacrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0009800,Maternal diabetes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0011867,Abnormal iliac wing morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006007,Orphanet,3027,ORPHA:3027,29,HP:0100710,Impulsivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0002269,Abnormality of neuronal migration,Very frequent (99-80%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0002385,Paraparesis,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0002392,EEG with polyspike wave complexes,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0002463,Language impairment,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0002509,Limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0002510,Spastic tetraplegia,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0002835,Aspiration,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0005684,Distal arthrogryposis,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0007024,Pseudobulbar paralysis,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0007033,Cerebellar dysplasia,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0007301,Oromotor apraxia,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0010808,Protruding tongue,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0011157,Focal sensory seizure,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0011755,Ectopic posterior pituitary,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0012014,EEG with central focal spikes,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0012015,EEG with frontal focal spikes,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0012017,EEG with parietal focal spikes,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0020190,Perisylvian predominant thick cortex pachygyria,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0030319,Weakness of facial musculature,Frequent (79-30%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0032407,Bilateral perisylvian polymicrogyria,Very frequent (99-80%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006011,Orphanet,98889,ORPHA:98889,49,HP:0410011,Abnormality of masticatory muscle,Occasional (29-5%),TAS,,,,"[PMID:19559633, PMID:21273507, PMID:24888723, PMID:27625275, PMID:30680716]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0001374,Congenital hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0001634,Mitral valve prolapse,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0001989,Fetal akinesia sequence,Very rare (<4-1%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0002047,Malignant hyperthermia,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0002483,Bulbar signs,Occasional (29-5%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0002643,Neonatal respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0002747,Respiratory insufficiency due to muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0003236,Elevated circulating creatine kinase concentration,Very rare (<4-1%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0003749,Pelvic girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0003798,Nemaline bodies,Occasional (29-5%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0003803,Type 1 muscle fiber predominance,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0030230,Central core regions in muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0040081,Abnormal circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006014,Orphanet,597,ORPHA:597,25,HP:0040191,Rectus femoris muscle atrophy,Excluded (0%),TAS,,,,"[PMID:16621918, PMID:17504518, PMID:30155738, PMID:4265427]",y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0000017,Nocturia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0000716,Depression,Frequent (79-30%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0000873,Diabetes insipidus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0001262,Excessive daytime somnolence,Frequent (79-30%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0001959,Polydipsia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0002315,Headache,Frequent (79-30%),TAS,,,,,y,y +GARD:0006015,Orphanet,178029,ORPHA:178029,17,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0000162,Glossoptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0000413,Atresia of the external auditory canal,Frequent (79-30%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0001591,Bell-shaped thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0002132,Porencephalic cyst,Occasional (29-5%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0002324,Hydranencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0002643,Neonatal respiratory distress,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0002779,Tracheomalacia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0010290,Short hard palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,,y,y +GARD:0006026,Orphanet,1393,ORPHA:1393,27,HP:0030282,Posterior rib gap,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0001522,Death in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0005105,Abnormal nasal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0005487,Prominent metopic ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0010978,Abnormality of immune system physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006027,Orphanet,1466,ORPHA:1466,33,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000704,Periodontitis,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000762,Decreased nerve conduction velocity,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001010,Hypopigmentation of the skin,Very frequent (99-80%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001258,Spastic paraplegia,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001410,Decreased liver function,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001583,Rotary nystagmus,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001881,Abnormal leukocyte morphology,Very frequent (99-80%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001922,Vacuolated lymphocytes,Very frequent (99-80%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0002155,Hypertriglyceridemia,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0002718,Recurrent bacterial infections,Very frequent (99-80%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0003075,Hypoproteinemia,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0003281,Increased circulating ferritin concentration,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0004527,Large clumps of pigment irregularly distributed along hair shaft,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0005406,Recurrent bacterial skin infections,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0005585,Spotty hyperpigmentation,Very rare (<4-1%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0006308,Atrophy of alveolar ridges,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0006827,Atrophy of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0007178,Motor polyneuropathy,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0007499,Recurrent staphylococcal infections,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0011869,Abnormal platelet function,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0011900,Hypofibrinogenemia,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0011990,Abnormality of neutrophil physiology,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0012145,Abnormality of multiple cell lineages in the bone marrow,Very frequent (99-80%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0012156,Hemophagocytosis,Very frequent (99-80%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0012176,Abnormal natural killer cell morphology,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0020096,Recurrent streptococcal infections,Frequent (79-30%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0025435,Increased circulating lactate dehydrogenase concentration,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0031408,Increased proportion of CD25+ mast cells,Very frequent (99-80%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006035,Orphanet,167,ORPHA:167,76,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:18043242, PMID:24521565, PMID:25129365, PMID:29939658]",y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0000277,Abnormal mandible morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0000529,Progressive visual loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0000677,Oligodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0002781,Upper airway obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0012062,Bone cyst,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006036,Orphanet,184,ORPHA:184,15,HP:0012802,Broad jaw,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0000282,Facial edema,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0000745,Diminished motivation,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0000967,Petechiae,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0000992,Cutaneous photosensitivity,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0002383,Infectious encephalitis,Very rare (<4-1%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0002716,Lymphadenopathy,Very rare (<4-1%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0002797,Osteolysis,Very rare (<4-1%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0003401,Paresthesia,Very rare (<4-1%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0003406,Peripheral nerve compression,Very rare (<4-1%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0005198,Stiff interphalangeal joints,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0007473,Crusting erythematous dermatitis,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0007483,Depigmentation/hyperpigmentation of skin,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0012185,Constrictive median neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0012219,Erythema nodosum,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0012733,Macule,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0025232,Bursitis,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0025289,Cervical lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0025337,Red eye,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0030834,Shoulder pain,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0030839,Knee pain,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0030880,Raynaud phenomenon,Very rare (<4-1%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0031002,Neuritis,Very rare (<4-1%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0032063,Ankle joint effusion,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0040165,Periostitis,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0040186,Maculopapular exanthema,Frequent (79-30%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0100686,Enthesitis,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0100769,Synovitis,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006038,Orphanet,324625,ORPHA:324625,51,HP:0200037,Skin vesicle,Occasional (29-5%),TAS,,,,"[PMID:26601450, PMID:28767976]",y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0000735,Impaired social interactions,Frequent (79-30%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0002333,Motor deterioration,Occasional (29-5%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0002607,Bowel incontinence,Frequent (79-30%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0007064,Progressive language deterioration,Very frequent (99-80%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0007086,Social and occupational deterioration,Frequent (79-30%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,[PMID:28392909],y,y +GARD:0006040,Orphanet,168782,ORPHA:168782,16,HP:0100851,Abnormal emotion/affect behavior,Very frequent (99-80%),TAS,,,,[PMID:28392909],y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0001941,Acidosis,Frequent (79-30%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0001944,Dehydration,Frequent (79-30%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0002883,Hyperventilation,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0002900,Hypokalemia,Frequent (79-30%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0002901,Hypocalcemia,Frequent (79-30%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0003111,Abnormal blood ion concentration,Frequent (79-30%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0003128,Lactic acidosis,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0007517,Palmoplantar cutis laxa,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0011036,Abnormality of renal excretion,Frequent (79-30%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0011037,Decreased urine output,Frequent (79-30%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0011951,Aspiration pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0031274,Hypovolemic shock,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0032155,Abdominal cramps,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006043,Orphanet,173,ORPHA:173,34,HP:0032448,Achlorhydria,Occasional (29-5%),TAS,,,,"[PMID:22748592, PMID:28302312, PMID:30512613]",y,y +GARD:0006061,Orphanet,180,ORPHA:180,8,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006061,Orphanet,180,ORPHA:180,8,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006061,Orphanet,180,ORPHA:180,8,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006061,Orphanet,180,ORPHA:180,8,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006061,Orphanet,180,ORPHA:180,8,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0006061,Orphanet,180,ORPHA:180,8,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006061,Orphanet,180,ORPHA:180,8,HP:0000662,Nyctalopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006061,Orphanet,180,ORPHA:180,8,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000048,Bifid scrotum,Frequent (79-30%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000243,Trigonocephaly,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000479,Abnormal retinal morphology,Very rare (<4-1%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000676,Abnormality of the incisor,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000832,Primary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0001274,Agenesis of corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0002323,Anencephaly,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0003256,Abnormality of the coagulation cascade,Very rare (<4-1%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0005233,Hypoplasia of the gallbladder,Very rare (<4-1%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0005927,Aplasia/hypoplasia involving bones of the hand,Frequent (79-30%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0009601,Aplasia/Hypoplasia of the thumb,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0009919,Retinoblastoma,Very rare (<4-1%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0011301,Absent foot,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0012211,Abnormal renal physiology,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0030032,Partial absence of foot,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006069,Orphanet,96176,ORPHA:96176,42,HP:0100779,Urogenital sinus anomaly,Occasional (29-5%),TAS,,,,"[PMID:11273829, PMID:1277571, PMID:1433229, PMID:23431756, PMID:24932608, PMID:25171325, PMID:25377780, PMID:5303427, PMID:7129419, PMID:717293, PMID:7440241, PMID:9332662, PMID:9881566]",y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000055,Abnormality of female external genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000307,Pointed chin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000464,Abnormality of the neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000534,Abnormal eyebrow morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000717,Autism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000878,11 pairs of ribs,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000892,Bifid ribs,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0000902,Rib fusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001009,Telangiectasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001107,Ocular albinism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001734,Annular pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001743,Abnormality of the spleen,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0001829,Foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002242,Abnormal intestine morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002465,Poor speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002591,Polyphagia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002715,Abnormality of the immune system,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0003006,Neuroblastoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0003416,Spinal canal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0004378,Abnormality of the anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0005113,Aortic arch aneurysm,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0008499,High hypermetropia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0011228,Horizontal eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0012733,Macule,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0006082,Orphanet,1606,ORPHA:1606,99,HP:0100716,Self-injurious behavior,Frequent (79-30%),TAS,,,,,y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0000027,Azoospermia,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0000141,Amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0000765,Abnormal thorax morphology,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0000789,Infertility,Frequent (79-30%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0000992,Cutaneous photosensitivity,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0001159,Syndactyly,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0004283,Narrow palm,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0007565,Multiple cafe-au-lait spots,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0008467,Thoracic hemivertebrae,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0011171,Simple febrile seizure,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0025190,Bilateral tonic-clonic seizure with generalized onset,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0025356,Psychomotor retardation,Frequent (79-30%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0030039,Fused thoracic vertebrae,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006083,Orphanet,1445,ORPHA:1445,30,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,"[PMID:21595005, PMID:29492108]",y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000294,Low anterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0004059,Radial club hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0010720,Abnormal hair pattern,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006091,Orphanet,1738,ORPHA:1738,30,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0008678,Renal hypoplasia/aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006093,Orphanet,1742,ORPHA:1742,17,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0006095,Orphanet,1448,ORPHA:1448,11,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006095,Orphanet,1448,ORPHA:1448,11,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006095,Orphanet,1448,ORPHA:1448,11,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006095,Orphanet,1448,ORPHA:1448,11,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006095,Orphanet,1448,ORPHA:1448,11,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006095,Orphanet,1448,ORPHA:1448,11,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006095,Orphanet,1448,ORPHA:1448,11,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006095,Orphanet,1448,ORPHA:1448,11,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006095,Orphanet,1448,ORPHA:1448,11,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006095,Orphanet,1448,ORPHA:1448,11,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006095,Orphanet,1448,ORPHA:1448,11,HP:0100589,Urogenital fistula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0000230,Gingivitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0000246,Sinusitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0000388,Otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0001034,Hypermelanotic macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0001874,Abnormality of neutrophils,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0002021,Pyloric stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0002575,Tracheoesophageal fistula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0006510,Chronic pulmonary obstruction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0100523,Liver abscess,Occasional (29-5%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0100533,Inflammatory abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0100721,Mediastinal lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006100,Orphanet,379,ORPHA:379,22,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0000762,Decreased nerve conduction velocity,Very frequent (99-80%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0002317,Unsteady gait,Very frequent (99-80%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0002527,Falls,Frequent (79-30%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0003474,Somatic sensory dysfunction,Very frequent (99-80%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0003481,Segmental peripheral demyelination/remyelination,Very frequent (99-80%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0010833,Spontaneous pain sensation,Occasional (29-5%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0010871,Sensory ataxia,Very frequent (99-80%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0011096,Peripheral demyelination,Very frequent (99-80%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0012078,Motor conduction block,Very frequent (99-80%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0030200,Fatiguable weakness of proximal limb muscles,Very frequent (99-80%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0030237,Hand muscle weakness,Frequent (79-30%),TAS,,,,[PMID:27902997],y,y +GARD:0006102,Orphanet,2932,ORPHA:2932,17,HP:0040129,Abnormal nerve conduction velocity,Very frequent (99-80%),TAS,,,,[PMID:27902997],y,y +GARD:0006105,Orphanet,521,ORPHA:521,11,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,[PMID:23125546],y,y +GARD:0006105,Orphanet,521,ORPHA:521,11,HP:0001871,Abnormality of blood and blood-forming tissues,Frequent (79-30%),TAS,,,,[PMID:23125546],y,y +GARD:0006105,Orphanet,521,ORPHA:521,11,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,[PMID:23125546],y,y +GARD:0006105,Orphanet,521,ORPHA:521,11,HP:0001894,Thrombocytosis,Frequent (79-30%),TAS,,,,[PMID:23125546],y,y +GARD:0006105,Orphanet,521,ORPHA:521,11,HP:0001911,Abnormal granulocyte morphology,Frequent (79-30%),TAS,,,,[PMID:23125546],y,y +GARD:0006105,Orphanet,521,ORPHA:521,11,HP:0001912,Abnormal basophil morphology,Frequent (79-30%),TAS,,,,[PMID:23125546],y,y +GARD:0006105,Orphanet,521,ORPHA:521,11,HP:0001945,Fever,Frequent (79-30%),TAS,,,,[PMID:23125546],y,y +GARD:0006105,Orphanet,521,ORPHA:521,11,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,[PMID:23125546],y,y +GARD:0006105,Orphanet,521,ORPHA:521,11,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,[PMID:23125546],y,y +GARD:0006105,Orphanet,521,ORPHA:521,11,HP:0005547,Myeloproliferative disorder,Obligate (100%),TAS,,,,[PMID:23125546],y,y +GARD:0006105,Orphanet,521,ORPHA:521,11,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,[PMID:23125546],y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0000944,Abnormality of the metaphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0000969,Edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0001061,Acne,Occasional (29-5%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0002037,Inflammation of the large intestine,Occasional (29-5%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0002754,Osteomyelitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0002797,Osteolysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0003468,Abnormal vertebral morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0003765,Psoriasiform dermatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0005464,Craniofacial osteosclerosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0100774,Hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0100781,Abnormal sacroiliac joint morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006108,Orphanet,324964,ORPHA:324964,27,HP:0100847,Palmoplantar pustulosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0000246,Sinusitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0000979,Purpura,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0001053,Hypopigmented skin patches,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0001063,Acrocyanosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0001635,Congestive heart failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0001697,Abnormal pericardium morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0001880,Eosinophilia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0001970,Tubulointerstitial nephritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0002099,Asthma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0002103,Abnormal pleura morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0002113,Pulmonary infiltrates,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0002633,Vasculitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0004936,Venous thrombosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0006535,Recurrent intrapulmonary hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0007009,Central nervous system degeneration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0012649,Increased inflammatory response,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0012735,Cough,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0100582,Nasal polyposis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0100584,Endocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0100614,Myositis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0100820,Glomerulopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006111,Orphanet,183,ORPHA:183,53,HP:0200034,Papule,Occasional (29-5%),TAS,,,,,y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0000473,Torticollis,Very rare (<4-1%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0000575,Scotoma,Very rare (<4-1%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0001252,Hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0001256,"Intellectual disability, mild",Very rare (<4-1%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0001350,Slurred speech,Very rare (<4-1%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0001399,Hepatic failure,Frequent (79-30%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0001950,Respiratory alkalosis,Occasional (29-5%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0001987,Hyperammonemia,Very frequent (99-80%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0002020,Gastroesophageal reflux,Very rare (<4-1%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0002076,Migraine,Very rare (<4-1%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0002315,Headache,Very rare (<4-1%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0002480,Hepatic encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0002516,Increased intracranial pressure,Very rare (<4-1%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0002789,Tachypnea,Very rare (<4-1%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0007185,Loss of consciousness,Very rare (<4-1%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0011448,Ankle clonus,Very rare (<4-1%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0011966,Elevated plasma citrulline,Very frequent (99-80%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006114,Orphanet,247525,ORPHA:247525,28,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301631, PMID:28132756, PMID:29423830, PMID:30035404, PMID:30534838]",y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000162,Glossoptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000246,Sinusitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000364,Hearing abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000882,Hypoplastic scapulae,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000894,Short clavicles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0001172,Abnormal thumb morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0001810,Dystrophic toenail,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0002644,Abnormality of pelvic girdle bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0002645,Wormian bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0002812,Coxa vara,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0003298,Spina bifida occulta,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0004331,Decreased skull ossification,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0005107,Abnormal sacrum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0008391,Dystrophic fingernails,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0008821,Hypoplastic inferior ilia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0010751,Dimple chin,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0010807,Open bite,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0011069,Supernumerary tooth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0011219,Short face,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0006118,Orphanet,1452,ORPHA:1452,55,HP:0200021,Down-sloping shoulders,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006121,Orphanet,190,ORPHA:190,8,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006121,Orphanet,190,ORPHA:190,8,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0006121,Orphanet,190,ORPHA:190,8,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0006121,Orphanet,190,ORPHA:190,8,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006121,Orphanet,190,ORPHA:190,8,HP:0000593,Abnormal anterior chamber morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006121,Orphanet,190,ORPHA:190,8,HP:0001103,Abnormal macular morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006121,Orphanet,190,ORPHA:190,8,HP:0008046,Abnormal retinal vascular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006121,Orphanet,190,ORPHA:190,8,HP:0008053,Aplasia/Hypoplasia of the iris,Occasional (29-5%),TAS,,,,,y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000011,Neurogenic bladder,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000089,Renal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000253,Progressive microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000408,Progressive sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000444,Convex nasal ridge,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000481,Abnormal cornea morphology,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000512,Abnormal electroretinogram,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000522,Alacrima,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000546,Retinal degeneration,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000556,Retinal dystrophy,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000568,Microphthalmia,Very rare (<4-1%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000573,Retinal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000580,Pigmentary retinopathy,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000585,Band keratopathy,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000616,Miosis,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000633,Decreased lacrimation,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000680,Delayed eruption of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000970,Anhidrosis,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001097,Keratoconjunctivitis sicca,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001105,Retinal atrophy,Very rare (<4-1%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001272,Cerebellar atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001344,Absent speech,Very rare (<4-1%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001612,Weak cry,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0001757,High-frequency sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002135,Basal ganglia calcification,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002149,Hyperuricemia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002171,Gliosis,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002345,Action tremor,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002461,Dense calcifications in the cerebellar dentate nucleus,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002509,Limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002545,Patchy demyelination of subcortical white matter,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002621,Atherosclerosis,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002684,Thickened calvaria,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002803,Congenital contracture,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0003758,Reduced subcutaneous adipose tissue,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0004934,Vascular calcification,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0005781,Contractures of the large joints,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0006349,Agenesis of permanent teeth,Very rare (<4-1%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0006482,Abnormality of dental morphology,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0006483,Abnormal number of teeth,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0007108,Demyelinating peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0007266,Cerebral dysmyelination,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0007346,Subcortical white matter calcifications,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0008043,Retinal arteriolar constriction,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0008197,Absence of pubertal development,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0011359,Dry hair,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0011451,Primary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0011527,Lentiglobus,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0012211,Abnormal renal physiology,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0012372,Abnormal eye morphology,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0012804,Corneal ulceration,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0025300,Malar rash,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0025403,Stooped posture,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006122,Orphanet,191,ORPHA:191,119,HP:0100678,Premature skin wrinkling,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:27507608]",y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000189,Narrow palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000194,Open mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000687,Widely spaced teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0000940,Abnormal diaphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001176,Large hands,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001500,Broad finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001582,Redundant skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001646,Abnormal aortic valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001702,Abnormal tricuspid valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001804,Hypoplastic fingernail,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0001812,Hyperconvex fingernails,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0002191,Progressive spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0002868,Narrow iliac wing,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0004493,Craniofacial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0006288,Advanced eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0009193,Pseudoepiphyses of the metacarpals,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0009928,Thick nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0100613,Death in early adulthood,Occasional (29-5%),TAS,,,,,y,y +GARD:0006123,Orphanet,192,ORPHA:192,72,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000289,Broad philtrum,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000294,Low anterior hairline,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0000998,Hypertrichosis,Very frequent (99-80%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001511,Intrauterine growth retardation,Very rare (<4-1%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001792,Small nail,Very frequent (99-80%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0002884,Hepatoblastoma,Very rare (<4-1%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0002895,Papillary thyroid carcinoma,Very rare (<4-1%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0008398,Hypoplastic fifth fingernail,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0009237,Short 5th finger,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0009879,Simplified gyral pattern,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0009928,Thick nasal alae,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0011231,Prominent eyelashes,Very frequent (99-80%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0011937,Hypoplastic fifth toenail,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0011951,Aspiration pneumonia,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0012523,Oral aversion,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0012810,Wide nasal base,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,[PMID:23556151],y,y +GARD:0006124,Orphanet,1465,ORPHA:1465,65,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,[PMID:23556151],y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000194,Open mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000294,Low anterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000492,Abnormal eyelid morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000499,Abnormal eyelash morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000527,Long eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001135,Chorioretinal dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001572,Macrodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001612,Weak cry,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001852,Sandal gap,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0001875,Neutropenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0002967,Cubitus valgus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0003272,Abnormal hip bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0004283,Narrow palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0009906,Aplasia/Hypoplasia of the earlobes,Occasional (29-5%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0010295,Aplasia/Hypoplasia of the tongue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0011308,Slender toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0100874,Thick hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0006126,Orphanet,193,ORPHA:193,64,HP:0200046,Cat cry,Frequent (79-30%),TAS,,,,,y,y +GARD:0006130,Orphanet,56425,ORPHA:56425,14,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006130,Orphanet,56425,ORPHA:56425,14,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006130,Orphanet,56425,ORPHA:56425,14,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006130,Orphanet,56425,ORPHA:56425,14,HP:0001878,Hemolytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006130,Orphanet,56425,ORPHA:56425,14,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006130,Orphanet,56425,ORPHA:56425,14,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0006130,Orphanet,56425,ORPHA:56425,14,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006130,Orphanet,56425,ORPHA:56425,14,HP:0002315,Headache,Occasional (29-5%),TAS,,,,,y,y +GARD:0006130,Orphanet,56425,ORPHA:56425,14,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006130,Orphanet,56425,ORPHA:56425,14,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006130,Orphanet,56425,ORPHA:56425,14,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006130,Orphanet,56425,ORPHA:56425,14,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0006130,Orphanet,56425,ORPHA:56425,14,HP:0012086,Abnormal urinary color,Occasional (29-5%),TAS,,,,,y,y +GARD:0006130,Orphanet,56425,ORPHA:56425,14,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0000388,Otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0000389,Chronic otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0000979,Purpura,Frequent (79-30%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0001392,Abnormality of the liver,Frequent (79-30%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0001531,Failure to thrive in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0001878,Hemolytic anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0001888,Lymphopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0001973,Autoimmune thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0002090,Pneumonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0002097,Emphysema,Occasional (29-5%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0002110,Bronchiectasis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0002837,Recurrent bronchitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0006783,Posterior pharyngeal cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0006140,Orphanet,1572,ORPHA:1572,26,HP:0100723,Gastrointestinal stroma tumor,Occasional (29-5%),TAS,,,,,y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0001976,Reduced antithrombin III activity,Very frequent (99-80%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0002204,Pulmonary embolism,Frequent (79-30%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0002625,Deep venous thrombosis,Frequent (79-30%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0002638,Superficial thrombophlebitis,Frequent (79-30%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0004420,Arterial thrombosis,Occasional (29-5%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0004831,Recurrent thromboembolism,Frequent (79-30%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0005305,Cerebral venous thrombosis,Very rare (<4-1%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0012636,Retinal vein occlusion,Occasional (29-5%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0030242,Portal vein thrombosis,Occasional (29-5%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0030243,Hepatic vein thrombosis,Occasional (29-5%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0030248,Mesenteric venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0031437,Pregnancy exposure,Frequent (79-30%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0040246,Reduced antithrombin antigen,Very frequent (99-80%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006148,Orphanet,82,ORPHA:82,15,HP:0200067,Recurrent spontaneous abortion,Occasional (29-5%),TAS,,,,"[PMID:10377836, PMID:19141163, PMID:24684277, PMID:29784539, PMID:31175794]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001648,Cor pulmonale,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0002058,Myopathic facies,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0002086,Abnormality of the respiratory system,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0003273,Hip contracture,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0003323,Progressive muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0003324,Generalized muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0003547,Shoulder girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0003749,Pelvic girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0004347,Weakness of muscles of respiration,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0004878,Intercostal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0005216,Impaired mastication,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0006466,Ankle flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0009004,Hypoplasia of the musculature,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0009027,Foot dorsiflexor weakness,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0011807,Type 1 muscle fiber atrophy,Very frequent (99-80%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0011842,Abnormal skeletal morphology,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0012416,Hypercapnia,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0012418,Hypoxemia,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0012785,Flexion contracture of finger,Occasional (29-5%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0030192,Fatigable weakness of bulbar muscles,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006161,Orphanet,2020,ORPHA:2020,59,HP:0030319,Weakness of facial musculature,Frequent (79-30%),TAS,,,,"[PMID:29141652, PMID:31578728, PMID:32456280]",y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0000656,Ectropion,Occasional (29-5%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0000969,Edema,Very rare (<4-1%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0000989,Pruritus,Very rare (<4-1%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0001030,Fragile skin,Very frequent (99-80%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0001096,Keratoconjunctivitis,Very rare (<4-1%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0001560,Abnormality of the amniotic fluid,Occasional (29-5%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0001790,Nonimmune hydrops fetalis,Frequent (79-30%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0001878,Hemolytic anemia,Occasional (29-5%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0002219,Facial hypertrichosis,Occasional (29-5%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0002797,Osteolysis,Very rare (<4-1%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0003401,Paresthesia,Very rare (<4-1%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0004552,Scarring alopecia of scalp,Occasional (29-5%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0005406,Recurrent bacterial skin infections,Frequent (79-30%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0007537,Severe photosensitivity,Very frequent (99-80%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0010472,Abnormal circulating porphyrin concentration,Frequent (79-30%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0011457,Loss of eyelashes,Occasional (29-5%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0012132,Erythroid hyperplasia,Occasional (29-5%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0012804,Corneal ulceration,Occasional (29-5%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0030756,Erythrodontia,Frequent (79-30%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0032999,Increased fecal porphyrin,Frequent (79-30%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0040318,Red urine,Frequent (79-30%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0040320,Red-brown urine,Frequent (79-30%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0040322,Purple urine,Frequent (79-30%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0100532,Scleritis,Very rare (<4-1%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0100699,Scarring,Frequent (79-30%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0200041,Skin erosion,Frequent (79-30%),TAS,,,,[PMID:24175354],y,y +GARD:0006169,Orphanet,95159,ORPHA:95159,37,HP:0500046,Seborrhoeic blepharitis,Very rare (<4-1%),TAS,,,,[PMID:24175354],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0000126,Hydronephrosis,Very rare (<4-1%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0000218,High palate,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0000377,Abnormal pinna morphology,Very rare (<4-1%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0000653,Sparse eyelashes,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0000929,Abnormal skull morphology,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0000951,Abnormality of the skin,Very frequent (99-80%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0001019,Erythroderma,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0001197,Abnormality of prenatal development or birth,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0001998,Neonatal hypoglycemia,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0002088,Abnormal lung morphology,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0002208,Coarse hair,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0002232,Patchy alopecia,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0004468,Anomalous tracheal cartilage,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0004552,Scarring alopecia of scalp,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0005756,Neonatal epiphyseal stippling,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0006619,Anterior rib punctate calcifications,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0008064,Ichthyosis,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0008434,Hypoplastic cervical vertebrae,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0008443,Spinal deformities,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0008850,Severe postnatal growth retardation,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0010655,Epiphyseal stippling,Very frequent (99-80%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0010720,Abnormal hair pattern,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0025474,Erythematous plaque,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0040189,Scaling skin,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0100559,Lower limb asymmetry,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0100560,Upper limb asymmetry,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0100569,Abnormally ossified vertebrae,Frequent (79-30%),TAS,,,,[PMID:21634086],y,y +GARD:0006189,Orphanet,35173,ORPHA:35173,46,HP:0100702,Arachnoid cyst,Very rare (<4-1%),TAS,,,,[PMID:21634086],y,y +GARD:0006196,Orphanet,293603,ORPHA:293603,9,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:19236704, PMID:28583694, PMID:32491788]",y,y +GARD:0006196,Orphanet,293603,ORPHA:293603,9,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,"[PMID:19236704, PMID:28583694, PMID:32491788]",y,y +GARD:0006196,Orphanet,293603,ORPHA:293603,9,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:19236704, PMID:28583694, PMID:32491788]",y,y +GARD:0006196,Orphanet,293603,ORPHA:293603,9,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:19236704, PMID:28583694, PMID:32491788]",y,y +GARD:0006196,Orphanet,293603,ORPHA:293603,9,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,"[PMID:19236704, PMID:28583694, PMID:32491788]",y,y +GARD:0006196,Orphanet,293603,ORPHA:293603,9,HP:0011487,Increased corneal thickness,Very frequent (99-80%),TAS,,,,"[PMID:19236704, PMID:28583694, PMID:32491788]",y,y +GARD:0006196,Orphanet,293603,ORPHA:293603,9,HP:0011490,Abnormal Descemet membrane morphology,Very frequent (99-80%),TAS,,,,"[PMID:19236704, PMID:28583694, PMID:32491788]",y,y +GARD:0006196,Orphanet,293603,ORPHA:293603,9,HP:0012040,Corneal stromal edema,Very frequent (99-80%),TAS,,,,"[PMID:19236704, PMID:28583694, PMID:32491788]",y,y +GARD:0006196,Orphanet,293603,ORPHA:293603,9,HP:0031792,Irregular astigmatism,Occasional (29-5%),TAS,,,,"[PMID:19236704, PMID:28583694, PMID:32491788]",y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000036,Abnormal penis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000130,Abnormality of the uterus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000221,Furrowed tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000820,Abnormality of the thyroid gland,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000853,Goiter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0000995,Melanocytic nevus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0001048,Cavernous hemangioma,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0002664,Neoplasm,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0002858,Meningioma,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0003002,Breast carcinoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0004390,Hamartomatous polyposis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0005374,Cellular immunodeficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0005584,Renal cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0005595,Generalized hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0006731,Follicular thyroid carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0007565,Multiple cafe-au-lait spots,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0008069,Neoplasm of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0008675,Enlarged polycystic ovaries,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0009720,Adenoma sebaceum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0010614,Fibroma,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0012032,Lipoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0012062,Bone cyst,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0012114,Endometrial carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0012740,Papilloma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0100006,Neoplasm of the central nervous system,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0100031,Neoplasm of the thyroid gland,Occasional (29-5%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0100579,Mucosal telangiectasiae,Frequent (79-30%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0100780,Conjunctival hamartoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006202,Orphanet,201,ORPHA:201,57,HP:0200063,Colorectal polyposis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000189,Narrow palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000262,Turricephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000444,Convex nasal ridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000509,Conjunctivitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0000995,Melanocytic nevus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0002308,Chiari malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0002315,Headache,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0002516,Increased intracranial pressure,Frequent (79-30%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0005107,Abnormal sacrum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0011324,Multiple suture craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0011386,Narrow internal auditory canal,Occasional (29-5%),TAS,,,,,y,y +GARD:0006206,Orphanet,207,ORPHA:207,33,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0000308,Microretrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0001620,High pitched voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0004348,Abnormality of bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0200046,Cat cry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006213,Orphanet,281,ORPHA:281,27,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0000100,Nephrotic syndrome,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0000123,Nephritis,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0000793,Membranoproliferative glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0000979,Purpura,Very frequent (99-80%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0001658,Myocardial infarction,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0001701,Pericarditis,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0001871,Abnormality of blood and blood-forming tissues,Very frequent (99-80%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0001955,Unexplained fevers,Frequent (79-30%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0002011,Morphological central nervous system abnormality,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0002027,Abdominal pain,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0002088,Abnormal lung morphology,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0002239,Gastrointestinal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0002315,Headache,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0002344,Progressive neurologic deterioration,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0002907,Microscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0002923,Rheumatoid factor positive,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0003496,Increased circulating IgM level,Frequent (79-30%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0004302,Functional motor deficit,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0004431,Complement deficiency,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0005508,Monoclonal immunoglobulin M proteinemia,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0005550,Chronic lymphatic leukemia,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0006121,Acral ulceration,Frequent (79-30%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0006562,Viral hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0006775,Multiple myeloma,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0006824,Cranial nerve paralysis,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0007067,Distal peripheral sensory neuropathy,Frequent (79-30%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0010833,Spontaneous pain sensation,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0011024,Abnormality of the gastrointestinal tract,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0011276,Vascular skin abnormality,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0011355,Localized skin lesion,Frequent (79-30%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0012191,B-cell lymphoma,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0012574,Mesangial hypercellularity,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0030880,Raynaud phenomenon,Frequent (79-30%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0031047,Paraproteinemia,Frequent (79-30%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0032018,Multiple mononeuropathy,Frequent (79-30%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0032290,Monoclonal elevation of IgG,Occasional (29-5%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0032335,Monoclonal elevation of circulating IgA,Very rare (<4-1%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006217,Orphanet,91139,ORPHA:91139,54,HP:0410135,Cold urticaria,Very frequent (99-80%),TAS,,,,"[PMID:30731128, PMID:31355088, PMID:32535708]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0000024,Prostatitis,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0000356,Abnormality of the outer ear,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0000479,Abnormal retinal morphology,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0000587,Abnormality of the optic nerve,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0000602,Ophthalmoplegia,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0001291,Abnormal cranial nerve morphology,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002181,Cerebral edema,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002354,Memory impairment,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002586,Peritonitis,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002754,Osteomyelitis,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002797,Osteolysis,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0003690,Limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0005526,Lymphoid leukemia,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0011531,Vitritis,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0025392,Nodular pattern on pulmonary HRCT,Frequent (79-30%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0031179,Nuchal rigidity,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0100721,Mediastinal lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006218,Orphanet,1546,ORPHA:1546,42,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:26897067, PMID:29738314, PMID:31578566, PMID:31587180]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0000155,Oral ulcer,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0000234,Abnormality of the head,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0000282,Facial edema,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0000363,Abnormal earlobe morphology,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0000464,Abnormality of the neck,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0001025,Urticaria,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0001075,Atrophic scars,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0001217,Clubbing,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0001232,Nail bed telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0001438,Abnormal abdomen morphology,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0001454,Abnormality of the upper arm,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0001806,Onycholysis,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0001820,Leukonychia,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0001965,Abnormal scalp morphology,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0002165,Pterygium of nails,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0002293,Alopecia of scalp,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0002715,Abnormality of the immune system,Very frequent (99-80%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0002814,Abnormality of the lower limb,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0002815,Abnormality of the knee,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0003043,Abnormal shoulder morphology,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0004552,Scarring alopecia of scalp,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0005339,Abnormality of complement system,Very frequent (99-80%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0007417,Discoid lupus rash,Frequent (79-30%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0007432,Intermittent generalized erythematous papular rash,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0007473,Crusting erythematous dermatitis,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0007502,Follicular hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0008404,Nail dystrophy,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0009123,Mixed hypo- and hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0009811,Abnormality of the elbow,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0011121,Abnormality of skin morphology,Very frequent (99-80%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0011276,Vascular skin abnormality,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0011830,Abnormal oral mucosa morphology,Frequent (79-30%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0011911,Abnormality of metacarpophalangeal joint,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0012490,Panniculitis,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0012500,Verrucous papule,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0025300,Malar rash,Very frequent (99-80%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0025474,Erythematous plaque,Frequent (79-30%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0025475,Erythematous macule,Frequent (79-30%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0025526,Psoriasiform lesion,Frequent (79-30%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0025528,Annular cutaneous lesion,Frequent (79-30%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0030057,Autoimmune antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0030254,Nail bed hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0031093,Abnormal breast morphology,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0031190,Superficial dermal perivascular inflammatory infiltrate,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0031191,Deep dermal perivascular inflammatory infiltrate,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0031234,Neutrophilic infiltration of the skin,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0031293,Digital pitting scar,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0032156,Skin detachment,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0032217,Indurated nodule,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0040186,Maculopapular exanthema,Frequent (79-30%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0040189,Scaling skin,Frequent (79-30%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0100539,Periorbital edema,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0100803,Abnormality of the periungual region,Frequent (79-30%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0100825,Cheilitis,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0100871,Abnormality of the palm,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0100872,Abnormality of the plantar skin of foot,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0200035,Skin plaque,Frequent (79-30%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0200039,Pustule,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006225,Orphanet,535,ORPHA:535,64,HP:0200041,Skin erosion,Occasional (29-5%),TAS,,,,"[PMID:20693199, PMID:20693208, PMID:28752372]",y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0000555,Leukocoria,Frequent (79-30%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0000951,Abnormality of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0000965,Cutis marmorata,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0001933,Subcutaneous hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0002814,Abnormality of the lower limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0002817,Abnormality of the upper limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0005306,Capillary hemangioma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0006385,Short lower limbs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0007565,Multiple cafe-au-lait spots,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0008065,Aplasia/Hypoplasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0100026,Arteriovenous malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0100545,Arterial stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0100555,Asymmetric growth,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0100627,Displacement of the urethral meatus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0100814,Blue nevus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006228,Orphanet,1556,ORPHA:1556,32,HP:0200041,Skin erosion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0000155,Oral ulcer,Frequent (79-30%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0000230,Gingivitis,Frequent (79-30%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0000246,Sinusitis,Very frequent (99-80%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0000388,Otitis media,Occasional (29-5%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0000704,Periodontitis,Occasional (29-5%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0001888,Lymphopenia,Occasional (29-5%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0001954,Recurrent fever,Frequent (79-30%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0002586,Peritonitis,Very rare (<4-1%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0004387,Enterocolitis,Very rare (<4-1%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0006308,Atrophy of alveolar ridges,Occasional (29-5%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0006357,Premature loss of permanent teeth,Occasional (29-5%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0009789,Perianal abscess,Occasional (29-5%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0011110,Recurrent tonsillitis,Frequent (79-30%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0011947,Respiratory tract infection,Frequent (79-30%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0025289,Cervical lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0025439,Pharyngitis,Frequent (79-30%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0030757,Tooth abscess,Frequent (79-30%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0031690,Opportunistic infection,Occasional (29-5%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0031864,Bacteremia,Very rare (<4-1%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0031891,Decreased eosinophil count,Occasional (29-5%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0032169,Severe infection,Very rare (<4-1%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0032323,Periodic fever,Frequent (79-30%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0040289,Cyclic neutropenia,Very frequent (99-80%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006229,Orphanet,2686,ORPHA:2686,32,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:20301705, PMID:32491328]",y,y +GARD:0006233,Orphanet,586,ORPHA:586,8,HP:0001738,Exocrine pancreatic insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006233,Orphanet,586,ORPHA:586,8,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006233,Orphanet,586,ORPHA:586,8,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006233,Orphanet,586,ORPHA:586,8,HP:0002206,Pulmonary fibrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006233,Orphanet,586,ORPHA:586,8,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006233,Orphanet,586,ORPHA:586,8,HP:0002613,Biliary cirrhosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006233,Orphanet,586,ORPHA:586,8,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006233,Orphanet,586,ORPHA:586,8,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0000124,Renal tubular dysfunction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0000488,Retinopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0000733,Motor stereotypy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0001959,Polydipsia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0002148,Hypophosphatemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0002357,Dysphasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0002748,Rickets,Frequent (79-30%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0009806,Nephrogenic diabetes insipidus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006236,Orphanet,213,ORPHA:213,33,HP:0100651,Type I diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006237,Orphanet,214,ORPHA:214,5,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0006237,Orphanet,214,ORPHA:214,5,HP:0000787,Nephrolithiasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006237,Orphanet,214,ORPHA:214,5,HP:0000790,Hematuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006237,Orphanet,214,ORPHA:214,5,HP:0002149,Hyperuricemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006237,Orphanet,214,ORPHA:214,5,HP:0004337,Abnormality of amino acid metabolism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006242,Orphanet,217,ORPHA:217,9,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006242,Orphanet,217,ORPHA:217,9,HP:0000269,Prominent occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006242,Orphanet,217,ORPHA:217,9,HP:0001305,Dandy-Walker malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006242,Orphanet,217,ORPHA:217,9,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,,y,y +GARD:0006242,Orphanet,217,ORPHA:217,9,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0006242,Orphanet,217,ORPHA:217,9,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0006242,Orphanet,217,ORPHA:217,9,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0006242,Orphanet,217,ORPHA:217,9,HP:0002691,Platybasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006242,Orphanet,217,ORPHA:217,9,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006243,Orphanet,218,ORPHA:218,13,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,,y,y +GARD:0006243,Orphanet,218,ORPHA:218,13,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006243,Orphanet,218,ORPHA:218,13,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006243,Orphanet,218,ORPHA:218,13,HP:0001034,Hypermelanotic macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006243,Orphanet,218,ORPHA:218,13,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0006243,Orphanet,218,ORPHA:218,13,HP:0001595,Abnormal hair morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006243,Orphanet,218,ORPHA:218,13,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006243,Orphanet,218,ORPHA:218,13,HP:0005212,Anal mucosal leukoplakia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006243,Orphanet,218,ORPHA:218,13,HP:0008410,Subungual hyperkeratotic fragments,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006243,Orphanet,218,ORPHA:218,13,HP:0010612,Plantar pits,Frequent (79-30%),TAS,,,,,y,y +GARD:0006243,Orphanet,218,ORPHA:218,13,HP:0012733,Macule,Occasional (29-5%),TAS,,,,,y,y +GARD:0006243,Orphanet,218,ORPHA:218,13,HP:0200016,Acrokeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006243,Orphanet,218,ORPHA:218,13,HP:0200037,Skin vesicle,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0000587,Abnormality of the optic nerve,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0001637,Abnormal myocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0001697,Abnormal pericardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0002140,Ischemic stroke,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0002239,Gastrointestinal hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0002586,Peritonitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0004334,Dermal atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0004420,Arterial thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0005244,Gastrointestinal infarctions,Frequent (79-30%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0007021,Pain insensitivity,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0010547,Muscle flaccidity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0010936,Abnormality of the lower urinary tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0012089,Arteritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0031368,Intestinal perforation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0100576,Amaurosis fugax,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0100819,Intestinal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0006249,Orphanet,679,ORPHA:679,34,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0000967,Petechiae,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0001342,Cerebral hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0003075,Hypoproteinemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006254,Orphanet,99828,ORPHA:99828,22,HP:0006543,Cardiorespiratory arrest,Occasional (29-5%),TAS,,,,,y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0000592,Blue sclerae,Very rare (<4-1%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0000683,Grayish enamel,Frequent (79-30%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0000694,Odontodysplasia,Frequent (79-30%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0001592,Selective tooth agenesis,Occasional (29-5%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0003010,Prolonged bleeding time,Very rare (<4-1%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0006094,Finger joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0006282,Generalized hypoplasia of dental enamel,Frequent (79-30%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0006286,Yellow-brown discoloration of the teeth,Frequent (79-30%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0006335,Persistence of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0006336,Short dental root,Occasional (29-5%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0006350,Pulp obliteration,Very frequent (99-80%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0006479,Abnormal dental pulp morphology,Frequent (79-30%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0006486,Abnormal dental root morphology,Very frequent (99-80%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0010299,Abnormal dentin morphology,Frequent (79-30%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0010485,Hyperextensibility at elbow,Occasional (29-5%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0011084,Hypocalcification of dental enamel,Frequent (79-30%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0025124,Fragile teeth,Frequent (79-30%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006258,Orphanet,49042,ORPHA:49042,21,HP:0045086,Knee joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:30134932, PMID:30964718, PMID:31284784]",y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0000492,Abnormal eyelid morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0000934,Chondrocalcinosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0000992,Cutaneous photosensitivity,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0001063,Acrocyanosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0001879,Abnormal eosinophil morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0002206,Pulmonary fibrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0002207,Diffuse reticular or finely nodular infiltrations,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0003002,Breast carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0003701,Proximal muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0006530,Abnormal pulmonary interstitial morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0008065,Aplasia/Hypoplasia of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0009071,Inflammatory myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0011362,Abnormal hair quantity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0011703,Sinus tachycardia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0030078,Lung adenocarcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0100539,Periorbital edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0100585,Telangiectasia of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0100723,Gastrointestinal stroma tumor,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0200034,Papule,Frequent (79-30%),TAS,,,,,y,y +GARD:0006263,Orphanet,221,ORPHA:221,49,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0002585,Abnormality of the peritoneum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0002595,Ileus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0002894,Neoplasm of the pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0010788,Testicular neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0100006,Neoplasm of the central nervous system,Occasional (29-5%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0100242,Sarcoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0100526,Neoplasm of the lung,Occasional (29-5%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0100615,Ovarian neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0006265,Orphanet,83469,ORPHA:83469,18,HP:0100721,Mediastinal lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0000009,Functional abnormality of the bladder,Very frequent (99-80%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0002529,Neuronal loss in central nervous system,Very frequent (99-80%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0003474,Somatic sensory dysfunction,Very frequent (99-80%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0010550,Paraplegia,Very frequent (99-80%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0011096,Peripheral demyelination,Very frequent (99-80%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0012229,CSF pleocytosis,Occasional (29-5%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0012486,Myelitis,Very frequent (99-80%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0030057,Autoimmune antibody positivity,Very frequent (99-80%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0100247,Recurrent singultus,Occasional (29-5%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0100653,Optic neuritis,Very frequent (99-80%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006267,Orphanet,71211,ORPHA:71211,15,HP:0200026,Ocular pain,Very frequent (99-80%),TAS,,,,[PMCID:PMC3895189],y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000185,Cleft soft palate,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000234,Abnormality of the head,Frequent (79-30%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000286,Epicanthus,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000294,Low anterior hairline,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000316,Hypertelorism,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000347,Micrognathia,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000369,Low-set ears,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000431,Wide nasal bridge,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000508,Ptosis,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000519,Developmental cataract,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000912,Sprengel anomaly,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001087,Developmental glaucoma,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001199,Triphalangeal thumb,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001227,Abnormality of the thenar eminence,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001680,Coarctation of aorta,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001790,Nonimmune hydrops fetalis,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001873,Thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001875,Neutropenia,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001894,Thrombocytosis,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001895,Normochromic anemia,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0001896,Reticulocytopenia,Frequent (79-30%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0002669,Osteosarcoma,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0002817,Abnormality of the upper limb,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0004808,Acute myeloid leukemia,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0005280,Depressed nasal bridge,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0005518,Increased mean corpuscular volume,Frequent (79-30%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0005532,Macrocytic dyserythropoietic anemia,Frequent (79-30%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0006758,Malignant genitourinary tract tumor,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0008551,Microtia,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0009777,Absent thumb,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0009778,Short thumb,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0009944,Partial duplication of thumb phalanx,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0011904,Persistence of hemoglobin F,Frequent (79-30%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0012133,Erythroid hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0012410,Pure red cell aplasia,Very frequent (99-80%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0020118,Radial artery aplasia,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0030270,Elevated red cell adenosine deaminase level,Very frequent (99-80%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0040276,Adenocarcinoma of the colon,Very rare (<4-1%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006274,Orphanet,124,ORPHA:124,59,HP:0410030,Cleft lip,Occasional (29-5%),TAS,,,,"[PMID:20301769, PMID:30228860]",y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0000889,Abnormal clavicle morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0000974,Hyperextensible skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0003042,Elbow dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0008434,Hypoplastic cervical vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0008921,Neonatal short-limb short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0009381,Short finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0009465,Ulnar deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0009623,Proximal placement of thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0009748,Large earlobe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0009773,Symphalangism affecting the phalanges of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006275,Orphanet,628,ORPHA:628,43,HP:0100761,Visceral angiomatosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006276,Orphanet,1672,ORPHA:1672,14,HP:0000040,Long penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006276,Orphanet,1672,ORPHA:1672,14,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0006276,Orphanet,1672,ORPHA:1672,14,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006276,Orphanet,1672,ORPHA:1672,14,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006276,Orphanet,1672,ORPHA:1672,14,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006276,Orphanet,1672,ORPHA:1672,14,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006276,Orphanet,1672,ORPHA:1672,14,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006276,Orphanet,1672,ORPHA:1672,14,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006276,Orphanet,1672,ORPHA:1672,14,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006276,Orphanet,1672,ORPHA:1672,14,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,,y,y +GARD:0006276,Orphanet,1672,ORPHA:1672,14,HP:0004325,Decreased body weight,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006276,Orphanet,1672,ORPHA:1672,14,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006276,Orphanet,1672,ORPHA:1672,14,HP:0004375,Neoplasm of the nervous system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006276,Orphanet,1672,ORPHA:1672,14,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0011134,Low-grade fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0100326,Immunologic hypersensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0100658,Cellulitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0100838,Recurrent cutaneous abscess formation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006286,Orphanet,231,ORPHA:231,15,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000402,Stenosis of the external auditory canal,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000496,Abnormality of eye movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000526,Aniridia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000615,Abnormal pupil morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000643,Blepharospasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0001199,Triphalangeal thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0002984,Hypoplasia of the radius,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0003974,Absent radius,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0005640,Abnormal vertebral segmentation and fusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0007400,Irregular hyperpigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0007766,Optic disc hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0007818,Central heterochromia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0007990,Hypoplastic iris stroma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0008572,External ear malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0009601,Aplasia/Hypoplasia of the thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0011365,Patchy hypopigmentation of hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0011386,Narrow internal auditory canal,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0012246,Oculomotor nerve palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0012732,Anorectal anomaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0012745,Short palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006288,Orphanet,233,ORPHA:233,55,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000055,Abnormality of female external genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000176,Submucous cleft hard palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000260,Wide anterior fontanel,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000294,Low anterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000829,Hypoparathyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0000992,Cutaneous photosensitivity,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001840,Metatarsus adductus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001874,Abnormality of neutrophils,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0002025,Anal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0002035,Rectal prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0005338,Sparse lateral eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0006721,Acute lymphoblastic leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0009601,Aplasia/Hypoplasia of the thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0009602,Abnormality of thumb phalanx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0009738,Abnormal antihelix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0009891,Underdeveloped supraorbital ridges,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006290,Orphanet,235,ORPHA:235,81,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0001638,Cardiomyopathy,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0002515,Waddling gait,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0003323,Progressive muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0003701,Proximal muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0008981,Calf muscle hypertrophy,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006291,Orphanet,98896,ORPHA:98896,15,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,[PMID:27524897],y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0000365,Hearing impairment,Excluded (0%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0000885,Broad ribs,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0000925,Abnormality of the vertebral column,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0000946,Hypoplastic ilia,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0001377,Limited elbow extension,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0001538,Protuberant abdomen,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0002651,Spondyloepimetaphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0002656,Epiphyseal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0002747,Respiratory insufficiency due to muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0002788,Recurrent upper respiratory tract infections,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0002812,Coxa vara,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0003028,Abnormality of the ankles,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0003066,Limited knee extension,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0003090,Hypoplasia of the capital femoral epiphysis,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0003183,Wide pubic symphysis,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0003274,Hypoplastic acetabulae,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0003311,Hypoplasia of the odontoid process,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0003368,Abnormal femoral head morphology,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0003467,Atlantoaxial instability,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0003521,Disproportionate short-trunk short stature,Very frequent (99-80%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0003690,Limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0003698,Difficulty standing,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0004242,Broad carpal bones,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0004568,Beaking of vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0005106,Abnormality of the vertebral endplates,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0006429,Broad femoral neck,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0006633,Glenoid fossa hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0007957,Corneal opacity,Excluded (0%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0008786,Iliac crest serration,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0008905,Rhizomelia,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0010306,Short thorax,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0012379,Abnormal enzyme/coenzyme activity,Excluded (0%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0031233,Horizontal inferior border of scapula,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0031987,Diminished ability to concentrate,Occasional (29-5%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0040163,Abnormal pelvis bone morphology,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006295,Orphanet,239,ORPHA:239,59,HP:0100255,Metaphyseal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:32766185, PMID:33216345]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0000079,Abnormality of the urinary system,Very rare (<4-1%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0000099,Glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0000794,IgA deposition in the glomerulus,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0000982,Palmoplantar keratoderma,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0001030,Fragile skin,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0001056,Milia,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0001057,Aplasia cutis congenita,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0001075,Atrophic scars,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0001581,Recurrent skin infections,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0001798,Anonychia,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0001891,Iron deficiency anemia,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0001917,Renal amyloidosis,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0001965,Abnormal scalp morphology,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0002671,Basal cell carcinoma,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0002839,Urinary bladder sphincter dysfunction,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0002860,Squamous cell carcinoma,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0004057,Mitten deformity,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0004386,Gastrointestinal inflammation,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0004395,Malnutrition,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0004791,Esophageal ulceration,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0006297,Enamel hypoplasia,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0010296,Ankyloglossia,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0011354,Generalized abnormality of skin,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0011936,Decreased plasma total carnitine,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0012056,Cutaneous melanoma,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0012227,Urethral stricture,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0012252,Abnormal respiratory system morphology,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0012390,Anal fissure,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0012532,Chronic pain,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0012622,Chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0031446,Erosion of oral mucosa,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0031464,Genital blistering,Very rare (<4-1%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0031831,Decreased serum zinc,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0031903,Abnormal circulating selenium concentration,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0032676,Chronic cutaneous wound,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0100492,Joint contractures involving the joints of the feet,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0100508,Abnormality of vitamin metabolism,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0100512,Low levels of vitamin D,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0200020,Corneal erosion,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006308,Orphanet,79408,ORPHA:79408,58,HP:0200097,Oral mucosal blisters,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0002140,Ischemic stroke,Very rare (<4-1%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0002196,Myelopathy,Very rare (<4-1%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0002326,Transient ischemic attack,Very rare (<4-1%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0007052,Multifocal cerebral white matter abnormalities,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0007902,Vitreous hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0007917,Tractional retinal detachment,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0011497,Iris neovascularization,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0011505,Cystoid macular edema,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0011531,Vitritis,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0012122,Anterior uveitis,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0012230,Rhegmatogenous retinal detachment,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0025188,Retinal vasculitis,Frequent (79-30%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0025239,Subhyaloid hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0030329,Retinal thinning,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0030652,Vitreous haze,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0030667,Peripheral retinal neovascularization,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0030773,Internuclear ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0030786,Photopsia,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0040049,Macular edema,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0100014,Epiretinal membrane,Very rare (<4-1%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006309,Orphanet,40923,ORPHA:40923,30,HP:0100832,Vitreous floaters,Occasional (29-5%),TAS,,,,"[PMID:32644547, PMID:33314007]",y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0001631,Atrial septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0002637,Cerebral ischemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0004306,Abnormal endocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0004420,Arterial thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0005110,Atrial fibrillation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0010316,Ebstein anomaly of the tricuspid valve,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0011575,Imperforate tricuspid valve,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0011712,Right bundle branch block,Frequent (79-30%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006313,Orphanet,1880,ORPHA:1880,18,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0006319,Orphanet,2440,ORPHA:2440,6,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006319,Orphanet,2440,ORPHA:2440,6,HP:0000526,Aniridia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006319,Orphanet,2440,ORPHA:2440,6,HP:0001171,Split hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0006319,Orphanet,2440,ORPHA:2440,6,HP:0004050,Absent hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0006319,Orphanet,2440,ORPHA:2440,6,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006319,Orphanet,2440,ORPHA:2440,6,HP:0012165,Oligodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000008,Abnormal morphology of female internal genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000189,Narrow palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000235,Abnormality of the fontanelles or cranial sutures,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000269,Prominent occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000308,Microretrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000453,Choanal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0001162,Postaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0001539,Omphalocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0001631,Atrial septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0002032,Esophageal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0002323,Anencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0002814,Abnormality of the lower limb,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0002817,Abnormality of the upper limb,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0003275,Narrow pelvis bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0004097,Deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0008388,Abnormal toenail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0009891,Underdeveloped supraorbital ridges,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0009914,Cyclopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0010935,Abnormality of the upper urinary tract,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006321,Orphanet,3380,ORPHA:3380,67,HP:0100810,Pointed helix,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0000083,Renal insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001217,Clubbing,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001279,Syncope,Very rare (<4-1%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001627,Abnormal heart morphology,Very frequent (99-80%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001636,Tetralogy of Fallot,Very rare (<4-1%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001694,Right-to-left shunt,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001708,Right ventricular failure,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001891,Iron deficiency anemia,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001892,Abnormal bleeding,Very rare (<4-1%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0002092,Pulmonary arterial hypertension,Very frequent (99-80%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0002149,Hyperuricemia,Very rare (<4-1%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0002321,Vertigo,Very rare (<4-1%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0003546,Exercise intolerance,Very frequent (99-80%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0004308,Ventricular arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0004755,Supraventricular tachycardia,Frequent (79-30%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0004756,Ventricular tachycardia,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0004840,Hypochromic microcytic anemia,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0005110,Atrial fibrillation,Frequent (79-30%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0005115,Supraventricular arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0005317,Increased pulmonary vascular resistance,Frequent (79-30%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0005518,Increased mean corpuscular volume,Very rare (<4-1%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0006689,Bacterial endocarditis,Very rare (<4-1%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0006695,Atrioventricular canal defect,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0007430,Generalized edema,Very rare (<4-1%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0011227,Elevated circulating C-reactive protein concentration,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0011604,Aortopulmonary window,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0011712,Right bundle branch block,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0012382,Left-to-right shunt,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0012398,Peripheral edema,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0030049,Brain abscess,Very rare (<4-1%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0030828,Wheezing,Very rare (<4-1%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0030848,Elevated jugular venous pressure,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0030849,Hepatojugular reflux,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0031138,Abnormal B-type natriuretic peptide level,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0100724,Hypercoagulability,Very rare (<4-1%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006323,Orphanet,97214,ORPHA:97214,58,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:23829793, PMID:29720395, PMID:29776964, PMID:29792339, PMID:29939577]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0000912,Sprengel anomaly,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0001605,Vocal cord paralysis,Very rare (<4-1%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0001639,Hypertrophic cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0001645,Sudden cardiac death,Very rare (<4-1%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0001678,Atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0001771,Achilles tendon contracture,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0002486,Myotonia,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0002747,Respiratory insufficiency due to muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0003141,Increased LDL cholesterol concentration,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0003306,Spinal rigidity,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0003418,Back pain,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0003805,Rimmed vacuoles,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0004631,Decreased cervical spine flexion due to contractures of posterior cervical muscles,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0005115,Supraventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0005155,Ventricular escape rhythm,Very rare (<4-1%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0006785,Limb-girdle muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0008948,Proximal upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0008956,Proximal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0008997,Proximal muscle weakness in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0009125,Lipodystrophy,Occasional (29-5%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0011807,Type 1 muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006329,Orphanet,261,ORPHA:261,44,HP:0030117,Absent muscle fiber emerin,Frequent (79-30%),TAS,,,,"[PMID:10377322, PMID:10838246, PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:21391237, PMID:4697975, PMID:5969090]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0001298,Encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0002883,Hyperventilation,Occasional (29-5%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0003484,Upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0004429,Recurrent viral infections,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0005986,Limitation of neck motion,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0007146,Bilateral basal ganglia lesions,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0009763,Limb pain,Occasional (29-5%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0012547,Abnormal involuntary eye movements,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0025258,Stiff neck,Occasional (29-5%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0025439,Pharyngitis,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006332,Orphanet,83600,ORPHA:83600,30,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:10563641, PMID:14570817, PMID:25129855, PMID:3801849, PMID:6039103, PMID:6126720]",y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0000830,Anterior hypopituitarism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0001635,Congestive heart failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0001706,Endocardial fibroelastosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0001723,Restrictive cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0001852,Sandal gap,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0011039,Abnormal helix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006336,Orphanet,2022,ORPHA:2022,16,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0001063,Acrocyanosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0001879,Abnormal eosinophil morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0001880,Eosinophilia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0100537,Fasciitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0100614,Myositis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0100658,Cellulitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006351,Orphanet,3165,ORPHA:3165,16,HP:0100748,Muscular edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0002888,Ependymoma,Obligate (100%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0002896,Neoplasm of the liver,Very rare (<4-1%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0010302,Spinal cord tumor,Occasional (29-5%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0012534,Dysesthesia,Occasional (29-5%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0025461,Abnormal cell morphology,Frequent (79-30%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0030693,Supratentorial neoplasm,Occasional (29-5%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0100013,Neoplasm of the breast,Very rare (<4-1%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0100526,Neoplasm of the lung,Very rare (<4-1%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006353,Orphanet,251636,ORPHA:251636,15,HP:0100615,Ovarian neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:24615997, PMID:25957762, PMID:28895660, PMID:29054328, PMID:29309981, PMID:30102193]",y,y +GARD:0006357,Orphanet,302,ORPHA:302,11,HP:0001051,Seborrheic dermatitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006357,Orphanet,302,ORPHA:302,11,HP:0001053,Hypopigmented skin patches,Frequent (79-30%),TAS,,,,,y,y +GARD:0006357,Orphanet,302,ORPHA:302,11,HP:0001581,Recurrent skin infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006357,Orphanet,302,ORPHA:302,11,HP:0002715,Abnormality of the immune system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006357,Orphanet,302,ORPHA:302,11,HP:0002860,Squamous cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006357,Orphanet,302,ORPHA:302,11,HP:0007565,Multiple cafe-au-lait spots,Frequent (79-30%),TAS,,,,,y,y +GARD:0006357,Orphanet,302,ORPHA:302,11,HP:0100585,Telangiectasia of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0006357,Orphanet,302,ORPHA:302,11,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006357,Orphanet,302,ORPHA:302,11,HP:0200035,Skin plaque,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006357,Orphanet,302,ORPHA:302,11,HP:0200039,Pustule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006357,Orphanet,302,ORPHA:302,11,HP:0200043,Verrucae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006360,Orphanet,46487,ORPHA:46487,10,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006360,Orphanet,46487,ORPHA:46487,10,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0006360,Orphanet,46487,ORPHA:46487,10,HP:0000987,Atypical scarring of skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0006360,Orphanet,46487,ORPHA:46487,10,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006360,Orphanet,46487,ORPHA:46487,10,HP:0001056,Milia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006360,Orphanet,46487,ORPHA:46487,10,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006360,Orphanet,46487,ORPHA:46487,10,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0006360,Orphanet,46487,ORPHA:46487,10,HP:0002037,Inflammation of the large intestine,Occasional (29-5%),TAS,,,,,y,y +GARD:0006360,Orphanet,46487,ORPHA:46487,10,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006360,Orphanet,46487,ORPHA:46487,10,HP:0008404,Nail dystrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0000873,Diabetes insipidus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0001114,Xanthelasma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0001646,Abnormal aortic valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0001697,Abnormal pericardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0001959,Polydipsia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0002754,Osteomyelitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0005200,Retroperitoneal fibrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0010978,Abnormality of immune system physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0012735,Cough,Occasional (29-5%),TAS,,,,,y,y +GARD:0006369,Orphanet,35687,ORPHA:35687,41,HP:0100518,Dysuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006377,Orphanet,90026,ORPHA:90026,8,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,[PMID:26920677],y,y +GARD:0006377,Orphanet,90026,ORPHA:90026,8,HP:0001872,Abnormality of thrombocytes,Occasional (29-5%),TAS,,,,[PMID:26920677],y,y +GARD:0006377,Orphanet,90026,ORPHA:90026,8,HP:0001909,Leukemia,Occasional (29-5%),TAS,,,,[PMID:26920677],y,y +GARD:0006377,Orphanet,90026,ORPHA:90026,8,HP:0002045,Hypothermia,Occasional (29-5%),TAS,,,,[PMID:26920677],y,y +GARD:0006377,Orphanet,90026,ORPHA:90026,8,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,[PMID:26920677],y,y +GARD:0006377,Orphanet,90026,ORPHA:90026,8,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,[PMID:26920677],y,y +GARD:0006377,Orphanet,90026,ORPHA:90026,8,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,[PMID:26920677],y,y +GARD:0006377,Orphanet,90026,ORPHA:90026,8,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,[PMID:26920677],y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0000104,Renal agenesis,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0000453,Choanal atresia,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0000589,Coloboma,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0000598,Abnormality of the ear,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0000811,Abnormal external genitalia,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0001252,Hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0001276,Hypertonia,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0001539,Omphalocele,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0001604,Vocal cord paresis,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0001607,Subglottic stenosis,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0001636,Tetralogy of Fallot,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0001680,Coarctation of aorta,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002089,Pulmonary hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002247,Duodenal atresia,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002566,Intestinal malrotation,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002575,Tracheoesophageal fistula,Very frequent (99-80%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002579,Gastrointestinal dysmotility,Frequent (79-30%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002672,Gastrointestinal carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0002835,Aspiration,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0003011,Abnormality of the musculature,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0003781,Excessive salivation,Frequent (79-30%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0004885,Episodic respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0006510,Chronic pulmonary obstruction,Frequent (79-30%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0008751,Laryngeal cleft,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0008755,Laryngotracheomalacia,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0009800,Maternal diabetes,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0010963,Absence of stomach bubble on fetal sonography,Frequent (79-30%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0012252,Abnormal respiratory system morphology,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0012387,Bronchitis,Frequent (79-30%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0012523,Oral aversion,Frequent (79-30%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0012718,Morphological abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0012732,Anorectal anomaly,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0040064,Abnormality of limbs,Occasional (29-5%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0100326,Immunologic hypersensitivity,Frequent (79-30%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0100580,Barrett esophagus,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0100633,Esophagitis,Frequent (79-30%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006381,Orphanet,1199,ORPHA:1199,61,HP:0410030,Cleft lip,Very rare (<4-1%),TAS,,,,"[PMID:17498283, PMID:20301753, PMID:31000707]",y,y +GARD:0006383,Orphanet,70482,ORPHA:70482,13,HP:0000464,Abnormality of the neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0006383,Orphanet,70482,ORPHA:70482,13,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,,y,y +GARD:0006383,Orphanet,70482,ORPHA:70482,13,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0006383,Orphanet,70482,ORPHA:70482,13,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006383,Orphanet,70482,ORPHA:70482,13,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006383,Orphanet,70482,ORPHA:70482,13,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0006383,Orphanet,70482,ORPHA:70482,13,HP:0002242,Abnormal intestine morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006383,Orphanet,70482,ORPHA:70482,13,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006383,Orphanet,70482,ORPHA:70482,13,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0006383,Orphanet,70482,ORPHA:70482,13,HP:0100247,Recurrent singultus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006383,Orphanet,70482,ORPHA:70482,13,HP:0100580,Barrett esophagus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006383,Orphanet,70482,ORPHA:70482,13,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0006383,Orphanet,70482,ORPHA:70482,13,HP:0100751,Esophageal neoplasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0000965,Cutis marmorata,Very frequent (99-80%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0000967,Petechiae,Very frequent (99-80%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0000979,Purpura,Very frequent (99-80%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0001097,Keratoconjunctivitis sicca,Occasional (29-5%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0001392,Abnormality of the liver,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0002633,Vasculitis,Very frequent (99-80%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0005244,Gastrointestinal infarctions,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0006562,Viral hepatitis,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0009831,Mononeuropathy,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0012224,Circulating immune complexes,Very frequent (99-80%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0100721,Mediastinal lymphadenopathy,Very frequent (99-80%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0100758,Gangrene,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0100778,Cryoglobulinemia,Very frequent (99-80%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0100820,Glomerulopathy,Frequent (79-30%),TAS,,,,[PMID:18796155],y,y +GARD:0006386,Orphanet,91138,ORPHA:91138,29,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,[PMID:18796155],y,y +GARD:0006389,Orphanet,1959,ORPHA:1959,13,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,[PMID:26190425],y,y +GARD:0006389,Orphanet,1959,ORPHA:1959,13,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,[PMID:26190425],y,y +GARD:0006389,Orphanet,1959,ORPHA:1959,13,HP:0000967,Petechiae,Very frequent (99-80%),TAS,,,,[PMID:26190425],y,y +GARD:0006389,Orphanet,1959,ORPHA:1959,13,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,[PMID:26190425],y,y +GARD:0006389,Orphanet,1959,ORPHA:1959,13,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,[PMID:26190425],y,y +GARD:0006389,Orphanet,1959,ORPHA:1959,13,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,[PMID:26190425],y,y +GARD:0006389,Orphanet,1959,ORPHA:1959,13,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,[PMID:26190425],y,y +GARD:0006389,Orphanet,1959,ORPHA:1959,13,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:26190425],y,y +GARD:0006389,Orphanet,1959,ORPHA:1959,13,HP:0001890,Autoimmune hemolytic anemia,Obligate (100%),TAS,,,,[PMID:26190425],y,y +GARD:0006389,Orphanet,1959,ORPHA:1959,13,HP:0001904,Neutropenia in presence of anti-neutropil antibodies,Very frequent (99-80%),TAS,,,,[PMID:26190425],y,y +GARD:0006389,Orphanet,1959,ORPHA:1959,13,HP:0001973,Autoimmune thrombocytopenia,Obligate (100%),TAS,,,,[PMID:26190425],y,y +GARD:0006389,Orphanet,1959,ORPHA:1959,13,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,[PMID:26190425],y,y +GARD:0006389,Orphanet,1959,ORPHA:1959,13,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,[PMID:26190425],y,y +GARD:0006398,Orphanet,93930,ORPHA:93930,13,HP:0000010,Recurrent urinary tract infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0006398,Orphanet,93930,ORPHA:93930,13,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006398,Orphanet,93930,ORPHA:93930,13,HP:0000039,Epispadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006398,Orphanet,93930,ORPHA:93930,13,HP:0000056,Abnormality of the clitoris,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006398,Orphanet,93930,ORPHA:93930,13,HP:0000069,Abnormality of the ureter,Frequent (79-30%),TAS,,,,,y,y +GARD:0006398,Orphanet,93930,ORPHA:93930,13,HP:0000076,Vesicoureteral reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006398,Orphanet,93930,ORPHA:93930,13,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006398,Orphanet,93930,ORPHA:93930,13,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0006398,Orphanet,93930,ORPHA:93930,13,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006398,Orphanet,93930,ORPHA:93930,13,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,,y,y +GARD:0006398,Orphanet,93930,ORPHA:93930,13,HP:0002836,Bladder exstrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006398,Orphanet,93930,ORPHA:93930,13,HP:0004378,Abnormality of the anus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006398,Orphanet,93930,ORPHA:93930,13,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000091,Abnormal renal tubule morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000100,Nephrotic syndrome,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000524,Conjunctival telangiectasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000716,Depression,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000790,Hematuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001014,Angiokeratoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001131,Corneal dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001635,Congestive heart failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001637,Abnormal myocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001646,Abnormal aortic valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001653,Mitral regurgitation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001678,Atrioventricular block,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0002097,Emphysema,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0002326,Transient ischemic attack,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0002571,Achalasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0002823,Abnormality of femur morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0003119,Abnormal circulating lipid concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0004306,Abnormal endocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0006510,Chronic pulmonary obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0011710,Bundle branch block,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0100579,Mucosal telangiectasiae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006400,Orphanet,324,ORPHA:324,65,HP:0100820,Glomerulopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0000132,Menorrhagia,Occasional (29-5%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0000225,Gingival bleeding,Frequent (79-30%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0002138,Subarachnoid hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0004846,Prolonged bleeding after surgery,Very frequent (99-80%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0005261,Joint hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0006298,Prolonged bleeding after dental extraction,Very frequent (99-80%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0007420,Spontaneous hematomas,Occasional (29-5%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0008151,Prolonged prothrombin time,Obligate (100%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0008321,Reduced factor X activity,Obligate (100%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0011854,Hemoperitoneum,Very rare (<4-1%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0011884,Abnormal umbilical stump bleeding,Occasional (29-5%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0011891,Post-partum hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0012233,Intramuscular hematoma,Occasional (29-5%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0025328,Antepartum hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006404,Orphanet,328,ORPHA:328,19,HP:0030140,Oral cavity bleeding,Occasional (29-5%),TAS,,,,"[PMID:23560890, PMID:27124643, PMID:30901144, PMID:9695984]",y,y +GARD:0006406,Orphanet,1980,ORPHA:1980,11,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006406,Orphanet,1980,ORPHA:1980,11,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006406,Orphanet,1980,ORPHA:1980,11,HP:0001392,Abnormality of the liver,Frequent (79-30%),TAS,,,,,y,y +GARD:0006406,Orphanet,1980,ORPHA:1980,11,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006406,Orphanet,1980,ORPHA:1980,11,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006406,Orphanet,1980,ORPHA:1980,11,HP:0001933,Subcutaneous hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006406,Orphanet,1980,ORPHA:1980,11,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006406,Orphanet,1980,ORPHA:1980,11,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006406,Orphanet,1980,ORPHA:1980,11,HP:0002269,Abnormality of neuronal migration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006406,Orphanet,1980,ORPHA:1980,11,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006406,Orphanet,1980,ORPHA:1980,11,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0000706,Eruption failure,Occasional (29-5%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0000820,Abnormality of the thyroid gland,Occasional (29-5%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0000853,Goiter,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0001733,Pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0002884,Hepatoblastoma,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0002885,Medulloblastoma,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0002888,Ependymoma,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0002893,Pituitary adenoma,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0002895,Papillary thyroid carcinoma,Occasional (29-5%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0003003,Colon cancer,Very frequent (99-80%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0004394,Multiple gastric polyps,Frequent (79-30%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0004783,Duodenal polyposis,Frequent (79-30%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0005227,Adenomatous colonic polyposis,Very frequent (99-80%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0005230,Biliary tract obstruction,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0006725,Pancreatic adenocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0006771,Duodenal adenocarcinoma,Occasional (29-5%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0007378,Neoplasm of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0007649,Congenital hypertrophy of retinal pigment epithelium,Very frequent (99-80%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0009592,Astrocytoma,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0010614,Fibroma,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0010615,Angiofibromas,Occasional (29-5%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0011068,Odontoma,Occasional (29-5%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0011355,Localized skin lesion,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0012032,Lipoma,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0012126,Stomach cancer,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0030153,Cholangiocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0030692,Brain neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0031459,Soft tissue neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0040274,Adenocarcinoma of the small intestine,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0100245,Desmoid tumors,Very frequent (99-80%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0100246,Osteoma,Frequent (79-30%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0100575,Neoplasm of the gallbladder,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0100631,Neoplasm of the adrenal gland,Occasional (29-5%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0100646,Thyroiditis,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0100717,Abnormal cementum morphology,Occasional (29-5%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0200040,Epidermoid cyst,Very rare (<4-1%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006408,Orphanet,733,ORPHA:733,40,HP:0200063,Colorectal polyposis,Very frequent (99-80%),TAS,,,,"[PMID:20301519, PMID:31070935]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0000660,Lipemia retinalis,Very frequent (99-80%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0000716,Depression,Very rare (<4-1%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0000819,Diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0000952,Jaundice,Very rare (<4-1%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0001013,Eruptive xanthomas,Frequent (79-30%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0001433,Hepatosplenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0001735,Acute pancreatitis,Very frequent (99-80%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0002155,Hypertriglyceridemia,Obligate (100%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0002204,Pulmonary embolism,Very rare (<4-1%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0002354,Memory impairment,Very rare (<4-1%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0002574,Episodic abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0003077,Hyperlipidemia,Obligate (100%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0004325,Decreased body weight,Occasional (29-5%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0004416,Precocious atherosclerosis,Excluded (0%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0009789,Perianal abscess,Very rare (<4-1%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0012238,Increased circulating chylomicron concentration,Obligate (100%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0100027,Recurrent pancreatitis,Very frequent (99-80%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006414,Orphanet,444490,ORPHA:444490,22,HP:0100851,Abnormal emotion/affect behavior,Very rare (<4-1%),TAS,,,,"[PMID:10342813, PMID:12387965, PMID:16174715, PMID:2648155, PMID:26825936, PMID:26892137, PMID:27998715, PMID:3887163, PMID:9091793, http://www.ncbi.nlm.nih.gov/books/NBK1308]",y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0001055,Erysipelas,Frequent (79-30%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0002102,Pleuritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0002586,Peritonitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0002745,Oral leukoplakia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0003565,Elevated erythrocyte sedimentation rate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0005244,Gastrointestinal infarctions,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0006554,Acute hepatic failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0006421,Orphanet,342,ORPHA:342,37,HP:0100796,Orchitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000027,Azoospermia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000035,Abnormal testis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000072,Hydroureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000079,Abnormality of the urinary system,Frequent (79-30%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000130,Abnormality of the uterus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000364,Hearing abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000492,Abnormal eyelid morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000813,Bicornuate uterus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001172,Abnormal thumb morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001199,Triphalangeal thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001646,Abnormal aortic valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001871,Abnormality of blood and blood-forming tissues,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001882,Leukopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0002245,Meckel diverticulum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0002664,Neoplasm,Frequent (79-30%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0002817,Abnormality of the upper limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0002823,Abnormality of femur morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0002997,Abnormality of the ulna,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0003022,Hypoplasia of the ulna,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0003220,Abnormality of chromosome stability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0005344,Abnormal carotid artery morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0005522,Pyridoxine-responsive sideroblastic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0006265,Aplasia/Hypoplasia of fingers,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0007565,Multiple cafe-au-lait spots,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0007874,Almond-shaped palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0008053,Aplasia/Hypoplasia of the iris,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0008572,External ear malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0010293,Aplasia/Hypoplasia of the uvula,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0010469,Absent testis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0012041,Decreased fertility in males,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0012210,Abnormal renal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0012639,Abnormal nervous system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0100026,Arteriovenous malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0100587,Abnormal preputium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0100760,Clubbing of toes,Occasional (29-5%),TAS,,,,,y,y +GARD:0006425,Orphanet,84,ORPHA:84,106,HP:0100867,Duodenal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0000502,Abnormal conjunctiva morphology,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0000608,Macular degeneration,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0000766,Abnormal sternum morphology,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001395,Hepatic fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001541,Ascites,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001609,Hoarse voice,Very frequent (99-80%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001612,Weak cry,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001615,Hoarse cry,Frequent (79-30%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001686,Loss of voice,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001789,Hydrops fetalis,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001831,Short toe,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001873,Thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001903,Anemia,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001954,Recurrent fever,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0002028,Chronic diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0002086,Abnormality of the respiratory system,Frequent (79-30%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0002207,Diffuse reticular or finely nodular infiltrations,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0002385,Paraparesis,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0002716,Lymphadenopathy,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0002788,Recurrent upper respiratory tract infections,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0002815,Abnormality of the knee,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0002910,Elevated hepatic transaminase,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0003019,Abnormality of the wrist,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0003444,EMG: chronic denervation signs,Frequent (79-30%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0003640,CNS foam cells,Frequent (79-30%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0005483,Abnormal epiglottis morphology,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0006511,Laryngeal stridor,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0006575,Intrahepatic cholestasis with episodic jaundice,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0007470,Periarticular subcutaneous nodules,Very frequent (99-80%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0007759,Opacification of the corneal stroma,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0009381,Short finger,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0009811,Abnormality of the elbow,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0010729,Cherry red spot of the macula,Frequent (79-30%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0011842,Abnormal skeletal morphology,Frequent (79-30%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0012469,Infantile spasms,Very rare (<4-1%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0025392,Nodular pattern on pulmonary HRCT,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0025405,Visual fixation instability,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0025423,Abnormal larynx morphology,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006426,Orphanet,333,ORPHA:333,70,HP:0100750,Atelectasis,Occasional (29-5%),TAS,,,,"[PMID:29048419, PMID:29595935, PMID:30029679]",y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000048,Bifid scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000235,Abnormality of the fontanelles or cranial sutures,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000364,Hearing abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000377,Abnormal pinna morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000474,Thickened nuchal skin fold,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0001199,Triphalangeal thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0001804,Hypoplastic fingernail,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0002208,Coarse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006435,Orphanet,1912,ORPHA:1912,30,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0000138,Ovarian cyst,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0000277,Abnormal mandible morphology,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0000326,Abnormality of the maxilla,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0000572,Visual loss,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0000818,Abnormality of the endocrine system,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0000819,Diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0000836,Hyperthyroidism,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0000845,Elevated circulating growth hormone concentration,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0000889,Abnormal clavicle morphology,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002148,Hypophosphatemia,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002669,Osteosarcoma,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002696,Abnormal parietal bone morphology,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002748,Rickets,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002749,Osteomalacia,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002753,Thin bony cortex,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002756,Pathologic fracture,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002812,Coxa vara,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002818,Abnormality of the radius,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002823,Abnormality of femur morphology,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002890,Thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002992,Abnormality of tibia morphology,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0002997,Abnormality of the ulna,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0003063,Abnormality of the humerus,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0003072,Hypercalcemia,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0003118,Increased circulating cortisol level,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0003319,Abnormality of the cervical spine,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0003330,Abnormal bone structure,Very frequent (99-80%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0003401,Paresthesia,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0005605,Large cafe-au-lait macules with irregular margins,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0005731,Cortical irregularity,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0006316,Irregularly spaced teeth,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0006487,Bowing of the long bones,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0007565,Multiple cafe-au-lait spots,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0009121,Abnormal axial skeleton morphology,Very frequent (99-80%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0009911,Abnormal temporal bone morphology,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0010465,Precocious puberty in females,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0010514,Hyperpituitarism,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0010657,Patchy reduction of bone mineral density,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0010668,Abnormal zygomatic bone morphology,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0010734,Fibrous dysplasia of the bones,Obligate (100%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0010788,Testicular neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0011821,Abnormal facial skeleton morphology,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0012294,Abnormal occipital bone morphology,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0030428,Cutaneous myxoma,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0031955,Antalgic gait,Frequent (79-30%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0040064,Abnormality of limbs,Very frequent (99-80%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0040163,Abnormal pelvis bone morphology,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0100013,Neoplasm of the breast,Very rare (<4-1%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0100712,Abnormal lumbar spine morphology,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0430000,Abnormal frontal bone morphology,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006444,Orphanet,249,ORPHA:249,62,HP:0430022,Abnormality of the sphenoid sinus,Occasional (29-5%),TAS,,,,"[PMID:23276185, PMID:27492469, PMID:27493082, PMID:30471134]",y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0003306,Spinal rigidity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0003468,Abnormal vertebral morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0010054,Abnormality of the first metatarsal bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0010058,Aplasia/Hypoplasia of the phalanges of the hallux,Frequent (79-30%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0010109,Short hallux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0011987,Ectopic ossification in muscle tissue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0011989,Ectopic ossification in ligament tissue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006445,Orphanet,337,ORPHA:337,20,HP:0100240,Synostosis of joints,Occasional (29-5%),TAS,,,,,y,y +GARD:0006447,Orphanet,468726,ORPHA:468726,10,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:20301282, PMID:33473342]",y,y +GARD:0006447,Orphanet,468726,ORPHA:468726,10,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20301282, PMID:33473342]",y,y +GARD:0006447,Orphanet,468726,ORPHA:468726,10,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301282, PMID:33473342]",y,y +GARD:0006447,Orphanet,468726,ORPHA:468726,10,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301282, PMID:33473342]",y,y +GARD:0006447,Orphanet,468726,ORPHA:468726,10,HP:0003614,Trimethylaminuria,Very frequent (99-80%),TAS,,,,"[PMID:20301282, PMID:33473342]",y,y +GARD:0006447,Orphanet,468726,ORPHA:468726,10,HP:0008770,Obsessive-compulsive trait,Occasional (29-5%),TAS,,,,"[PMID:20301282, PMID:33473342]",y,y +GARD:0006447,Orphanet,468726,ORPHA:468726,10,HP:0011999,Paranoia,Occasional (29-5%),TAS,,,,"[PMID:20301282, PMID:33473342]",y,y +GARD:0006447,Orphanet,468726,ORPHA:468726,10,HP:0031467,Negative affectivity,Frequent (79-30%),TAS,,,,"[PMID:20301282, PMID:33473342]",y,y +GARD:0006447,Orphanet,468726,ORPHA:468726,10,HP:0031469,Low self esteem,Frequent (79-30%),TAS,,,,"[PMID:20301282, PMID:33473342]",y,y +GARD:0006447,Orphanet,468726,ORPHA:468726,10,HP:0410020,Fish odor,Obligate (100%),TAS,,,,"[PMID:20301282, PMID:33473342]",y,y +GARD:0006450,Orphanet,79292,ORPHA:79292,8,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006450,Orphanet,79292,ORPHA:79292,8,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,,y,y +GARD:0006450,Orphanet,79292,ORPHA:79292,8,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006450,Orphanet,79292,ORPHA:79292,8,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006450,Orphanet,79292,ORPHA:79292,8,HP:0002621,Atherosclerosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006450,Orphanet,79292,ORPHA:79292,8,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006450,Orphanet,79292,ORPHA:79292,8,HP:0003233,Decreased HDL cholesterol concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006450,Orphanet,79292,ORPHA:79292,8,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000113,Polycystic kidney dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000327,Hypoplasia of the maxilla,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000446,Narrow nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000593,Abnormal anterior chamber morphology,Very rare (<4-1%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000677,Oligodontia,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000711,Restlessness,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000878,11 pairs of ribs,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000894,Short clavicles,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0000914,Shield chest,Frequent (79-30%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0001611,Nasal speech,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0001620,High pitched voice,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0001631,Atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0001636,Tetralogy of Fallot,Very rare (<4-1%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0001680,Coarctation of aorta,Very rare (<4-1%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0002608,Celiac disease,Very rare (<4-1%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0003037,Enlarged joints,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0003083,Dislocated radial head,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0003189,Long nose,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0003774,Stage 5 chronic kidney disease,Very rare (<4-1%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0003879,Humeral pseudarthrosis,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0005301,Persistent left superior vena cava,Very rare (<4-1%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0006335,Persistence of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0008554,Cochlear malformation,Very rare (<4-1%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0009765,Low hanging columella,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0009778,Short thumb,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0010049,Short metacarpal,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0010946,Dilatation of the renal pelvis,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0010957,Congenital posterior urethral valve,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0011098,Speech apraxia,Very frequent (99-80%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0011300,Broad fingertip,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0011599,Mesocardia,Very rare (<4-1%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0012538,Gluten intolerance,Very rare (<4-1%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0012871,Varicocele,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0025160,Abnormal temper tantrums,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0030424,Epididymal cyst,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006455,Orphanet,2044,ORPHA:2044,79,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:23193612, PMID:31715605]",y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000085,Horseshoe kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000307,Pointed chin,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000370,Abnormality of the middle ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000446,Narrow nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000773,Short ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000894,Short clavicles,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001018,Abnormal palmar dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001083,Ectopia lentis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001161,Hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001540,Diastasis recti,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0001839,Split foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0002247,Duodenal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0002414,Spina bifida,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0004334,Dermal atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0004930,Abnormality of the pulmonary vasculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0006554,Acute hepatic failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0006703,Aplasia/Hypoplasia of the lungs,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0007676,Hypoplasia of the iris,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0008839,Hypoplastic pelvis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0009124,Abnormal adipose tissue morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0010807,Open bite,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0011847,Giant cell tumor of bone,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0012740,Papilloma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0045026,Abnormality of the mediastinum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0100559,Lower limb asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0100560,Upper limb asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0100670,Coarse metaphyseal trabecularization,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0100790,Hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006457,Orphanet,2092,ORPHA:2092,69,HP:0200036,Skin nodule,Frequent (79-30%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0000053,Macroorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0000246,Sinusitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0000276,Long face,Frequent (79-30%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0000388,Otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0000389,Chronic otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0001388,Joint laxity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0002003,Large forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0003564,Folate-dependent fragile site at Xq28,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0004970,Ascending tubular aorta aneurysm,Occasional (29-5%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0006464,Orphanet,908,ORPHA:908,27,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000003,Multicystic kidney dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000068,Urethral atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000089,Renal hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000142,Abnormal vagina morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000148,Vaginal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000204,Cleft upper lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000370,Abnormality of the middle ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000413,Atresia of the external auditory canal,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000528,Anophthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000689,Dental malocclusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0000813,Bicornuate uterus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0001126,Cryptophthalmos,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0001362,Calvarial skull defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0001602,Laryngeal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0001607,Subglottic stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0002025,Anal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0002777,Tracheal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0003183,Wide pubic symphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0003191,Cleft ala nasi,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0004112,Midline nasal groove,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0007925,Lacrimal duct aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0007993,Malformed lacrimal duct,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0008572,External ear malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0010297,Bifid tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0010458,Female pseudohermaphroditism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0010720,Abnormal hair pattern,Occasional (29-5%),TAS,,,,,y,y +GARD:0006465,Orphanet,2052,ORPHA:2052,58,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0001557,Prenatal movement abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0001762,Talipes equinovarus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0002047,Malignant hyperthermia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0009465,Ulnar deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0010489,Absent palmar crease,Occasional (29-5%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0010751,Dimple chin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006466,Orphanet,2053,ORPHA:2053,31,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0000570,Abnormal saccadic eye movements,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0002066,Gait ataxia,Obligate (100%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0002070,Limb ataxia,Very frequent (99-80%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0002141,Gait imbalance,Very frequent (99-80%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0002522,Areflexia of lower limbs,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0002527,Falls,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0002546,Incomprehensible speech,Occasional (29-5%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0002839,Urinary bladder sphincter dysfunction,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0003390,Sensory axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0003431,Decreased motor nerve conduction velocity,Occasional (29-5%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0009130,Hand muscle atrophy,Very frequent (99-80%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0010831,Impaired proprioception,Very frequent (99-80%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0010873,Cervical spinal cord atrophy,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006468,Orphanet,95,ORPHA:95,34,HP:0030183,Impaired visually enhanced vestibulo-ocular reflex,Frequent (79-30%),TAS,,,,"[PMID:10633128, PMID:18852343, PMID:8149209]",y,y +GARD:0006471,Orphanet,2056,ORPHA:2056,6,HP:0003074,Hyperglycemia,Excluded (0%),TAS,,,,"[PMID:28368361, PMID:29664676]",y,y +GARD:0006471,Orphanet,2056,ORPHA:2056,6,HP:0010969,Abnormality of glycolipid metabolism,Very frequent (99-80%),TAS,,,,"[PMID:28368361, PMID:29664676]",y,y +GARD:0006471,Orphanet,2056,ORPHA:2056,6,HP:0011033,Impairment of fructose metabolism,Obligate (100%),TAS,,,,"[PMID:28368361, PMID:29664676]",y,y +GARD:0006471,Orphanet,2056,ORPHA:2056,6,HP:0012379,Abnormal enzyme/coenzyme activity,Obligate (100%),TAS,,,,"[PMID:28368361, PMID:29664676]",y,y +GARD:0006471,Orphanet,2056,ORPHA:2056,6,HP:0030272,Abnormal erythrocyte enzyme level,Very frequent (99-80%),TAS,,,,"[PMID:28368361, PMID:29664676]",y,y +GARD:0006471,Orphanet,2056,ORPHA:2056,6,HP:0031979,Abnormal urine carbohydrate level,Very frequent (99-80%),TAS,,,,"[PMID:28368361, PMID:29664676]",y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0000943,Dysostosis multiplex,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0001063,Acrocyanosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0001626,Abnormality of the cardiovascular system,Frequent (79-30%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0002510,Spastic tetraplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0003199,Decreased muscle mass,Frequent (79-30%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0005264,Abnormality of the gallbladder,Frequent (79-30%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0005595,Generalized hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0008155,Mucopolysacchariduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0008430,Anterior beaking of lumbar vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0011276,Vascular skin abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0006473,Orphanet,349,ORPHA:349,31,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0000298,Mask-like facies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0001357,Plagiocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0001612,Weak cry,Frequent (79-30%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0003560,Muscular dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0007260,Type II lissencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0007973,Retinal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0030046,Hypoglycosylation of alpha-dystroglycan,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006475,Orphanet,272,ORPHA:272,31,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0000943,Dysostosis multiplex,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0001230,Broad metacarpals,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0001332,Dystonia,Excluded (0%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0001433,Hepatosplenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0001511,Intrauterine growth retardation,Very rare (<4-1%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0002071,Abnormality of extrapyramidal motor function,Excluded (0%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0002267,Exaggerated startle response,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0002506,Diffuse cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0002684,Thickened calvaria,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0002690,Large sella turcica,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0002869,Flared iliac wing,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0003026,Short long bone,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0003541,Urinary glycosaminoglycan excretion,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0004562,Beaking of vertebral bodies T12-L3,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0006371,Broad long bone diaphyses,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0007204,Diffuse white matter abnormalities,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0008166,Decreased beta-galactosidase activity,Obligate (100%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0008479,Hypoplastic vertebral bodies,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0008807,Acetabular dysplasia,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0008812,Flattened femoral head,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0010729,Cherry red spot of the macula,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0011951,Aspiration pneumonia,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0012307,Spatulate ribs,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0012753,T2 hypointense basal ganglia,Frequent (79-30%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0025013,Decerebrate rigidity,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0025356,Psychomotor retardation,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0100767,Abnormal placenta morphology,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:0410346,Increased urinary galactosylated oligosaccharide,Very frequent (99-80%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006479,Orphanet,79255,ORPHA:79255,55,HP:3000050,Abnormal odontoid tissue morphology,Occasional (29-5%),TAS,,,,"[PMID:24156116, PMID:31937438]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0000132,Menorrhagia,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0000271,Abnormality of the face,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0001877,Abnormal erythrocyte morphology,Very rare (<4-1%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0001894,Thrombocytosis,Very rare (<4-1%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0001973,Autoimmune thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0002170,Intracranial hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0002239,Gastrointestinal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0003645,Prolonged partial thromboplastin time,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0005261,Joint hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0008352,Impaired platelet adhesion,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0008770,Obsessive-compulsive trait,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0012076,Borderline personality disorder,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0012233,Intramuscular hematoma,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0025406,Asthenia,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0025474,Erythematous plaque,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0030140,Oral cavity bleeding,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0031190,Superficial dermal perivascular inflammatory infiltrate,Frequent (79-30%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0031364,Ecchymosis,Very frequent (99-80%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0033676,Posttraumatic stress symptom,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0040064,Abnormality of limbs,Frequent (79-30%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006481,Orphanet,324636,ORPHA:324636,42,HP:0410019,Epigastric pain,Occasional (29-5%),TAS,,,,"[PMID:19192020, PMID:28363337, PMID:29644197]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0002342,"Intellectual disability, moderate",Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0002672,Gastrointestinal carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0002884,Hepatoblastoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0002885,Medulloblastoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0002894,Neoplasm of the pancreas,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0002895,Papillary thyroid carcinoma,Occasional (29-5%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0003002,Breast carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0003003,Colon cancer,Frequent (79-30%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0004394,Multiple gastric polyps,Very frequent (99-80%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0004783,Duodenal polyposis,Frequent (79-30%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0005227,Adenomatous colonic polyposis,Very frequent (99-80%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0006283,Multiple unerupted teeth,Occasional (29-5%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0006722,Small intestine carcinoid,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0006744,Adrenocortical carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0007649,Congenital hypertrophy of retinal pigment epithelium,Frequent (79-30%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0008256,Adrenocortical adenoma,Occasional (29-5%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0009592,Astrocytoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0010562,Keloids,Occasional (29-5%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0011068,Odontoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0011459,Esophageal carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0012032,Lipoma,Frequent (79-30%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0012125,Prostate cancer,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0025388,Thyroid nodule,Frequent (79-30%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0030434,Pilomatrixoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0030692,Brain neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0031524,Ampulla of Vater carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0100244,Fibrosarcoma,Very rare (<4-1%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0100245,Desmoid tumors,Occasional (29-5%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0100246,Osteoma,Occasional (29-5%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006482,Orphanet,79665,ORPHA:79665,33,HP:0200040,Epidermoid cyst,Occasional (29-5%),TAS,,,,"[PMID:11156460, PMID:14902760, PMID:15300576, PMID:18046442, PMID:19822006, PMID:21209732, PMID:22525412, PMID:8747580]",y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0000614,Abnormal nasolacrimal system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0000820,Abnormality of the thyroid gland,Occasional (29-5%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0002113,Pulmonary infiltrates,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0012123,Posterior uveitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0012191,B-cell lymphoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006485,Orphanet,52417,ORPHA:52417,17,HP:0100721,Mediastinal lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006497,Orphanet,63275,ORPHA:63275,6,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,[PMID:25178359],y,y +GARD:0006497,Orphanet,63275,ORPHA:63275,6,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:25178359],y,y +GARD:0006497,Orphanet,63275,ORPHA:63275,6,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:25178359],y,y +GARD:0006497,Orphanet,63275,ORPHA:63275,6,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,[PMID:25178359],y,y +GARD:0006497,Orphanet,63275,ORPHA:63275,6,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,[PMID:25178359],y,y +GARD:0006497,Orphanet,63275,ORPHA:63275,6,HP:0200037,Skin vesicle,Very frequent (99-80%),TAS,,,,[PMID:25178359],y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0002224,Woolly hair,Frequent (79-30%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0002235,Pili canaliculi,Very frequent (99-80%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0002527,Falls,Occasional (29-5%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0003405,Diffuse axonal swelling,Very frequent (99-80%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0003429,CNS hypomyelination,Very frequent (99-80%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0003690,Limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0003701,Proximal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0005109,Abnormality of the Achilles tendon,Very frequent (99-80%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0005922,Abnormal hand morphology,Frequent (79-30%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006500,Orphanet,643,ORPHA:643,26,HP:0012503,Abnormality of the pituitary gland,Occasional (29-5%),TAS,,,,"[PMID:19231187, PMID:28300918]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0000141,Amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0000845,Elevated circulating growth hormone concentration,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0000870,Increased circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0001176,Large hands,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0001639,Hypertrophic cardiomyopathy,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0001712,Left ventricular hypertrophy,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0001833,Long foot,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0005978,Type II diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0006767,Pituitary prolactin cell adenoma,Frequent (79-30%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0011407,Proportionate tall stature,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0011760,Pituitary growth hormone cell adenoma,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0012411,Premature pubarche,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0030269,Increased serum insulin-like growth factor 1,Very frequent (99-80%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006506,Orphanet,99725,ORPHA:99725,20,HP:0100829,Galactorrhea,Occasional (29-5%),TAS,,,,"[PMID:16728643, PMID:17360484, PMID:18200440, PMID:4843205, PMID:6723082, PMID:9920092]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0001293,Cranial nerve compression,Frequent (79-30%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0001605,Vocal cord paralysis,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0002617,Vascular dilatation,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0003319,Abnormality of the cervical spine,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0004395,Malnutrition,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0007099,Chiari type I malformation,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0012534,Dysesthesia,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0030164,Jaw claudication,Frequent (79-30%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0030766,Ear pain,Frequent (79-30%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0030811,Tongue pain,Frequent (79-30%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0032043,Odynophagia,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0032148,Episodic pain,Frequent (79-30%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0100008,Schwannoma,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0200025,Mandibular pain,Frequent (79-30%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:0200136,Oral-pharyngeal dysphagia,Occasional (29-5%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006519,Orphanet,221098,ORPHA:221098,28,HP:3000047,Abnormal glossopharyngeal nerve morphology,Frequent (79-30%),TAS,,,,"[PMID:28827979, PMID:30361762, PMID:31082085]",y,y +GARD:0006521,Orphanet,35710,ORPHA:35710,14,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20486940, PMID:32946683]",y,y +GARD:0006521,Orphanet,35710,ORPHA:35710,14,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:20486940, PMID:32946683]",y,y +GARD:0006521,Orphanet,35710,ORPHA:35710,14,HP:0000790,Hematuria,Very rare (<4-1%),TAS,,,,"[PMID:20486940, PMID:32946683]",y,y +GARD:0006521,Orphanet,35710,ORPHA:35710,14,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:20486940, PMID:32946683]",y,y +GARD:0006521,Orphanet,35710,ORPHA:35710,14,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,"[PMID:20486940, PMID:32946683]",y,y +GARD:0006521,Orphanet,35710,ORPHA:35710,14,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,"[PMID:20486940, PMID:32946683]",y,y +GARD:0006521,Orphanet,35710,ORPHA:35710,14,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,"[PMID:20486940, PMID:32946683]",y,y +GARD:0006521,Orphanet,35710,ORPHA:35710,14,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20486940, PMID:32946683]",y,y +GARD:0006521,Orphanet,35710,ORPHA:35710,14,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:20486940, PMID:32946683]",y,y +GARD:0006521,Orphanet,35710,ORPHA:35710,14,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,"[PMID:20486940, PMID:32946683]",y,y +GARD:0006521,Orphanet,35710,ORPHA:35710,14,HP:0003228,Hypernatremia,Frequent (79-30%),TAS,,,,"[PMID:20486940, PMID:32946683]",y,y +GARD:0006521,Orphanet,35710,ORPHA:35710,14,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:20486940, PMID:32946683]",y,y +GARD:0006521,Orphanet,35710,ORPHA:35710,14,HP:0004395,Malnutrition,Frequent (79-30%),TAS,,,,"[PMID:20486940, PMID:32946683]",y,y +GARD:0006521,Orphanet,35710,ORPHA:35710,14,HP:0030143,Hyperactive bowel sounds,Occasional (29-5%),TAS,,,,"[PMID:20486940, PMID:32946683]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0000573,Retinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0001334,Communicating hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0002134,Abnormality of the basal ganglia,Very frequent (99-80%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0002275,Poor motor coordination,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0002305,Athetosis,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0002339,Abnormal caudate nucleus morphology,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0002451,Limb dystonia,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0003150,Glutaric aciduria,Very frequent (99-80%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0003162,Fasting hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0003546,Exercise intolerance,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0004481,Progressive macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0006829,Severe muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0007132,Pallidal degeneration,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0009716,Subependymal nodules,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0009830,Peripheral neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0012622,Chronic kidney disease,Very rare (<4-1%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0012704,Widened subarachnoid space,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0012753,T2 hypointense basal ganglia,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0031982,Abnormal putamen morphology,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0040194,Increased head circumference,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0100309,Subdural hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006522,Orphanet,25,ORPHA:25,43,HP:0100954,Open operculum,Frequent (79-30%),TAS,,,,"[PMID:12888985, PMID:31536184]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0000078,Abnormality of the genital system,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0000113,Polycystic kidney dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0000118,Phenotypic abnormality,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0000256,Macrocephaly,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0000260,Wide anterior fontanel,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0001298,Encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0001410,Decreased liver function,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0001638,Cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0001735,Acute pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0001942,Metabolic acidosis,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0001987,Hyperammonemia,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0002091,Restrictive ventilatory defect,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0002171,Gliosis,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0002282,Gray matter heterotopia,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0002421,Poor head control,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0002540,Inability to walk,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0002614,Hepatic periportal necrosis,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003128,Lactic acidosis,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003150,Glutaric aciduria,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003201,Rhabdomyolysis,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003219,Ethylmalonic aciduria,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003234,Decreased plasma carnitine,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003344,3-Methylglutaric aciduria,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003546,Exercise intolerance,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003551,Difficulty climbing stairs,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003648,Lacticaciduria,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003691,Scapular winging,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0006543,Cardiorespiratory arrest,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0006582,Reye syndrome-like episodes,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0009020,Exercise-induced muscle fatigue,Frequent (79-30%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0012240,Increased intramyocellular lipid droplets,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0025435,Increased circulating lactate dehydrogenase concentration,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0030199,Fatigable weakness of neck muscles,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006523,Orphanet,26791,ORPHA:26791,58,HP:0045045,Elevated circulating acylcarnitine concentration,Occasional (29-5%),TAS,,,,"[PMID:18289905, PMID:19249206, PMID:20370797, PMID:26403312, PMID:2658591]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0002875,Exertional dyspnea,Occasional (29-5%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0003201,Rhabdomyolysis,Frequent (79-30%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0003546,Exercise intolerance,Very frequent (99-80%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0003652,Recurrent myoglobinuria,Frequent (79-30%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0003710,Exercise-induced muscle cramps,Frequent (79-30%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0003738,Exercise-induced myalgia,Occasional (29-5%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0005216,Impaired mastication,Very rare (<4-1%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0008305,Exercise-induced myoglobinuria,Frequent (79-30%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0008967,Exercise-induced muscle stiffness,Occasional (29-5%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0009051,Increased muscle glycogen content,Very frequent (99-80%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0009073,Progressive proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0012622,Chronic kidney disease,Very rare (<4-1%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0030231,Glycogen accumulation in muscle fiber lysosomes,Very frequent (99-80%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0030234,Highly elevated creatine kinase,Very frequent (99-80%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0030973,Postexertional malaise,Occasional (29-5%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006528,Orphanet,368,ORPHA:368,24,HP:0040319,Dark urine,Frequent (79-30%),TAS,,,,"[PMID:20301518, PMID:21880526, PMID:27922496, PMID:29143597]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0000077,Abnormality of the kidney,Very rare (<4-1%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0000093,Proteinuria,Very rare (<4-1%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0001394,Cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0001395,Hepatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0001402,Hepatocellular carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0001639,Hypertrophic cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0001946,Ketosis,Frequent (79-30%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0003077,Hyperlipidemia,Occasional (29-5%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0003710,Exercise-induced muscle cramps,Occasional (29-5%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0004913,Intermittent lactic acidemia,Occasional (29-5%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0006568,Increased hepatic glycogen content,Very frequent (99-80%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0006580,Portal fibrosis,Occasional (29-5%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0011997,Postprandial hyperlactemia,Very rare (<4-1%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006529,Orphanet,369,ORPHA:369,28,HP:0030973,Postexertional malaise,Occasional (29-5%),TAS,,,,"[PMID:20301760, PMID:25266922, PMID:30659246, PMID:31768638]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0000265,Mastoiditis,Occasional (29-5%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0001167,Abnormality of finger,Occasional (29-5%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0001287,Meningitis,Very rare (<4-1%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0002176,Spinal cord compression,Very rare (<4-1%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0002683,Abnormality of the calvaria,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0002754,Osteomyelitis,Very rare (<4-1%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0002756,Pathologic fracture,Occasional (29-5%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0002823,Abnormality of femur morphology,Occasional (29-5%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0003319,Abnormality of the cervical spine,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0005216,Impaired mastication,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0005731,Cortical irregularity,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0007099,Chiari type I malformation,Occasional (29-5%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0007461,Hemangiomatosis,Occasional (29-5%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0009139,Osteolysis involving bones of the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0010639,Elevated alkaline phosphatase of bone origin,Very frequent (99-80%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0010657,Patchy reduction of bone mineral density,Very frequent (99-80%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0010754,Abnormality of the temporomandibular joint,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0011384,Abnormality of the internal auditory canal,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0011821,Abnormal facial skeleton morphology,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0011849,Abnormal bone ossification,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0012294,Abnormal occipital bone morphology,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0031417,Rhinorrhea,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0040163,Abnormal pelvis bone morphology,Very rare (<4-1%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0045027,Abnormality of the thoracic cavity,Occasional (29-5%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0045039,Osteolysis involving bones of the upper limbs,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0100764,Lymphangioma,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0200025,Mandibular pain,Frequent (79-30%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006542,Orphanet,73,ORPHA:73,36,HP:0430005,Abnormal ethmoid bone morphology,Occasional (29-5%),TAS,,,,"[PMID:25405099, PMID:27829197, PMID:28004375]",y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0000951,Abnormality of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0007392,Excessive wrinkled skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0006543,Orphanet,2500,ORPHA:2500,19,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0001830,Postaxial foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0001841,Preaxial foot polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0010059,Broad hallux phalanx,Occasional (29-5%),TAS,,,,,y,y +GARD:0006550,Orphanet,380,ORPHA:380,22,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0000523,Subcapsular cataract,Frequent (79-30%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0000529,Progressive visual loss,Very frequent (99-80%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0000533,Chorioretinal atrophy,Very frequent (99-80%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0000618,Blindness,Frequent (79-30%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0001103,Abnormal macular morphology,Frequent (79-30%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0001133,Constriction of peripheral visual field,Frequent (79-30%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0001595,Abnormal hair morphology,Occasional (29-5%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0003355,Aminoaciduria,Frequent (79-30%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0007675,Progressive night blindness,Frequent (79-30%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0012026,Hyperornithinemia,Very frequent (99-80%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0040031,Chorioretinal hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006556,Orphanet,414,ORPHA:414,16,HP:0200065,Chorioretinal degeneration,Very frequent (99-80%),TAS,,,,"[PMID:1682785, PMID:30578510, PMID:8325736]",y,y +GARD:0006558,Orphanet,330,ORPHA:330,9,HP:0001026,Penetrating foot ulcers,Very rare (<4-1%),TAS,,,,"[PMID:15013868, PMID:1905067, PMID:22043782, PMID:23492916, PMID:24597288, PMID:26709783]",y,y +GARD:0006558,Orphanet,330,ORPHA:330,9,HP:0001892,Abnormal bleeding,Very rare (<4-1%),TAS,,,,"[PMID:15013868, PMID:1905067, PMID:22043782, PMID:23492916, PMID:24597288, PMID:26709783]",y,y +GARD:0006558,Orphanet,330,ORPHA:330,9,HP:0001907,Thromboembolism,Occasional (29-5%),TAS,,,,"[PMID:15013868, PMID:1905067, PMID:22043782, PMID:23492916, PMID:24597288, PMID:26709783]",y,y +GARD:0006558,Orphanet,330,ORPHA:330,9,HP:0001977,Abnormal thrombosis,Occasional (29-5%),TAS,,,,"[PMID:15013868, PMID:1905067, PMID:22043782, PMID:23492916, PMID:24597288, PMID:26709783]",y,y +GARD:0006558,Orphanet,330,ORPHA:330,9,HP:0003645,Prolonged partial thromboplastin time,Very frequent (99-80%),TAS,,,,"[PMID:15013868, PMID:1905067, PMID:22043782, PMID:23492916, PMID:24597288, PMID:26709783]",y,y +GARD:0006558,Orphanet,330,ORPHA:330,9,HP:0004841,Reduced factor XII activity,Very frequent (99-80%),TAS,,,,"[PMID:15013868, PMID:1905067, PMID:22043782, PMID:23492916, PMID:24597288, PMID:26709783]",y,y +GARD:0006558,Orphanet,330,ORPHA:330,9,HP:0007985,Retinal arteriolar occlusion,Occasional (29-5%),TAS,,,,"[PMID:15013868, PMID:1905067, PMID:22043782, PMID:23492916, PMID:24597288, PMID:26709783]",y,y +GARD:0006558,Orphanet,330,ORPHA:330,9,HP:0012636,Retinal vein occlusion,Occasional (29-5%),TAS,,,,"[PMID:15013868, PMID:1905067, PMID:22043782, PMID:23492916, PMID:24597288, PMID:26709783]",y,y +GARD:0006558,Orphanet,330,ORPHA:330,9,HP:0200067,Recurrent spontaneous abortion,Occasional (29-5%),TAS,,,,"[PMID:15013868, PMID:1905067, PMID:22043782, PMID:23492916, PMID:24597288, PMID:26709783]",y,y +GARD:0006559,Orphanet,2841,ORPHA:2841,5,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006559,Orphanet,2841,ORPHA:2841,5,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006559,Orphanet,2841,ORPHA:2841,5,HP:0100792,Acantholysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006559,Orphanet,2841,ORPHA:2841,5,HP:0200037,Skin vesicle,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006559,Orphanet,2841,ORPHA:2841,5,HP:0200041,Skin erosion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000510,Rod-cone dystrophy,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000546,Retinal degeneration,Very frequent (99-80%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000580,Pigmentary retinopathy,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000619,Impaired convergence,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000662,Nyctalopia,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001152,Saccadic smooth pursuit,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001266,Choreoathetosis,Very frequent (99-80%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001345,Psychotic mentation,Very rare (<4-1%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0001927,Acanthocytosis,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0002071,Abnormality of extrapyramidal motor function,Very frequent (99-80%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0002080,Intention tremor,Very rare (<4-1%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0002454,Eye of the tiger anomaly of globus pallidus,Very frequent (99-80%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0002483,Bulbar signs,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0003084,Fractures of the long bones,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0006957,Loss of ability to walk,Very frequent (99-80%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0007132,Pallidal degeneration,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0007994,Peripheral visual field loss,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0008181,Abetalipoproteinemia,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0009088,Speech articulation difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0009763,Limb pain,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0011504,Bull's eye maculopathy,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0011916,Toe extensor amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0012045,Retinal flecks,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0012179,Craniofacial dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0012677,Iron accumulation in globus pallidus,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0012678,Iron accumulation in substantia nigra,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0025402,Square-wave jerks,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0031814,Palilalia,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0031937,Tachylalia,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0031959,Leg dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0032014,Dysmetric vertical saccades,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0100033,Tics,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006564,Orphanet,157850,ORPHA:157850,61,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:20301663, PMID:29844889, PMID:30804242]",y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0000364,Hearing abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0000656,Ectropion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0001019,Erythroderma,Frequent (79-30%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0001829,Foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0002047,Malignant hyperthermia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0007431,Congenital ichthyosiform erythroderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0012472,Eclabion,Frequent (79-30%),TAS,,,,,y,y +GARD:0006568,Orphanet,457,ORPHA:457,18,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0000206,Glossitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0000230,Gingivitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0000712,Emotional lability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0000738,Hallucinations,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0000739,Anxiety,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0002076,Migraine,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0007400,Irregular hyperpigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0008353,Neutral hyperaminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006569,Orphanet,2116,ORPHA:2116,28,HP:0012086,Abnormal urinary color,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0000176,Submucous cleft hard palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0000653,Sparse eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0000698,Conical tooth,Frequent (79-30%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0001092,Absent lacrimal punctum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0001795,Hyperconvex nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0001810,Dystrophic toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0001812,Hyperconvex fingernails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0002208,Coarse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0007440,Generalized hyperpigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0008391,Dystrophic fingernails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0009755,Ankyloblepharon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0011819,Submucous cleft soft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0006571,Orphanet,1071,ORPHA:1071,31,HP:0100335,Non-midline cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0001658,Myocardial infarction,Very rare (<4-1%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0001733,Pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0001919,Acute kidney injury,Frequent (79-30%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0001923,Reticulocytosis,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0001937,Microangiopathic hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0001981,Schistocytosis,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0002035,Rectal prolapse,Very rare (<4-1%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0002576,Intussusception,Very rare (<4-1%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0002586,Peritonitis,Very rare (<4-1%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0002900,Hypokalemia,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0003259,Elevated circulating creatinine concentration,Frequent (79-30%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0003641,Hemoglobinuria,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0005423,Dysfunctional alternative complement pathway,Frequent (79-30%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0008282,Unconjugated hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0012851,Colonic stenosis,Very rare (<4-1%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0025085,Bloody diarrhea,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0025435,Increased circulating lactate dehydrogenase concentration,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0031368,Intestinal perforation,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0100282,Acute colitis,Occasional (29-5%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006588,Orphanet,90038,ORPHA:90038,33,HP:0100519,Anuria,Frequent (79-30%),TAS,,,,"[PMID:22802583, PMID:27768015, PMID:29961127, PMID:30561409]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0000967,Petechiae,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0000979,Purpura,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0001019,Erythroderma,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0001410,Decreased liver function,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0002086,Abnormality of the respiratory system,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0002583,Colitis,Occasional (29-5%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0002611,Cholestatic liver disease,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0002958,Immune dysregulation,Very frequent (99-80%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0003073,Hypoalbuminemia,Very frequent (99-80%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0003256,Abnormality of the coagulation cascade,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0003281,Increased circulating ferritin concentration,Very frequent (99-80%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0011112,Abnormality of serum cytokine level,Very frequent (99-80%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0011118,Abnormality of tumor necrosis factor secretion,Very frequent (99-80%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0011121,Abnormality of skin morphology,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0011900,Hypofibrinogenemia,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0012145,Abnormality of multiple cell lineages in the bone marrow,Very frequent (99-80%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0012156,Hemophagocytosis,Very frequent (99-80%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0012178,Reduced natural killer cell activity,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0012211,Abnormal renal physiology,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0012229,CSF pleocytosis,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0030356,Increased serum interferon-gamma level,Very frequent (99-80%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0030783,Increased circulating interleukin 6 concentration,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0031364,Ecchymosis,Frequent (79-30%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006589,Orphanet,540,ORPHA:540,45,HP:0040186,Maculopapular exanthema,Occasional (29-5%),TAS,,,,"[PMID:26461150, PMID:28934563, PMID:32387063]",y,y +GARD:0006591,Orphanet,98878,ORPHA:98878,14,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,"[PMID:11246535, PMID:20301578, PMID:27178624, PMID:427411]",y,y +GARD:0006591,Orphanet,98878,ORPHA:98878,14,HP:0001907,Thromboembolism,Frequent (79-30%),TAS,,,,"[PMID:11246535, PMID:20301578, PMID:27178624, PMID:427411]",y,y +GARD:0006591,Orphanet,98878,ORPHA:98878,14,HP:0002170,Intracranial hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:11246535, PMID:20301578, PMID:27178624, PMID:427411]",y,y +GARD:0006591,Orphanet,98878,ORPHA:98878,14,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:11246535, PMID:20301578, PMID:27178624, PMID:427411]",y,y +GARD:0006591,Orphanet,98878,ORPHA:98878,14,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:11246535, PMID:20301578, PMID:27178624, PMID:427411]",y,y +GARD:0006591,Orphanet,98878,ORPHA:98878,14,HP:0003125,Reduced factor VIII activity,Very frequent (99-80%),TAS,,,,"[PMID:11246535, PMID:20301578, PMID:27178624, PMID:427411]",y,y +GARD:0006591,Orphanet,98878,ORPHA:98878,14,HP:0005261,Joint hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:11246535, PMID:20301578, PMID:27178624, PMID:427411]",y,y +GARD:0006591,Orphanet,98878,ORPHA:98878,14,HP:0007420,Spontaneous hematomas,Frequent (79-30%),TAS,,,,"[PMID:11246535, PMID:20301578, PMID:27178624, PMID:427411]",y,y +GARD:0006591,Orphanet,98878,ORPHA:98878,14,HP:0009811,Abnormality of the elbow,Occasional (29-5%),TAS,,,,"[PMID:11246535, PMID:20301578, PMID:27178624, PMID:427411]",y,y +GARD:0006591,Orphanet,98878,ORPHA:98878,14,HP:0011889,Bleeding with minor or no trauma,Very frequent (99-80%),TAS,,,,"[PMID:11246535, PMID:20301578, PMID:27178624, PMID:427411]",y,y +GARD:0006591,Orphanet,98878,ORPHA:98878,14,HP:0012223,Splenic rupture,Very rare (<4-1%),TAS,,,,"[PMID:11246535, PMID:20301578, PMID:27178624, PMID:427411]",y,y +GARD:0006591,Orphanet,98878,ORPHA:98878,14,HP:0012233,Intramuscular hematoma,Occasional (29-5%),TAS,,,,"[PMID:11246535, PMID:20301578, PMID:27178624, PMID:427411]",y,y +GARD:0006591,Orphanet,98878,ORPHA:98878,14,HP:0030140,Oral cavity bleeding,Frequent (79-30%),TAS,,,,"[PMID:11246535, PMID:20301578, PMID:27178624, PMID:427411]",y,y +GARD:0006591,Orphanet,98878,ORPHA:98878,14,HP:0030746,Intraventricular hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:11246535, PMID:20301578, PMID:27178624, PMID:427411]",y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0001658,Myocardial infarction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0001872,Abnormality of thrombocytes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0002326,Transient ischemic attack,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0002488,Acute leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0003010,Prolonged bleeding time,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0004420,Arterial thrombosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0004936,Venous thrombosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0005513,Increased megakaryocyte count,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0005561,Abnormality of bone marrow cell morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0011875,Abnormal platelet morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0011974,Myelofibrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0100576,Amaurosis fugax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0100659,Abnormal cerebral vascular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006594,Orphanet,3318,ORPHA:3318,17,HP:0100749,Chest pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0000987,Atypical scarring of skin,Frequent (79-30%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0000992,Cutaneous photosensitivity,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0001030,Fragile skin,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0001402,Hepatocellular carcinoma,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0001903,Anemia,Excluded (0%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0001945,Fever,Excluded (0%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0002572,Episodic vomiting,Frequent (79-30%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0003163,Elevated urinary delta-aminolevulinic acid,Very frequent (99-80%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0005325,Extension of hair growth on temples to lateral eyebrow,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0007178,Motor polyneuropathy,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0008528,Long hairs growing from helix of pinna,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0008997,Proximal muscle weakness in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0009763,Limb pain,Frequent (79-30%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0009937,Facial hirsutism,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0010472,Abnormal circulating porphyrin concentration,Very frequent (99-80%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0010473,Porphyrinuria,Frequent (79-30%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0011121,Abnormality of skin morphology,Frequent (79-30%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0012217,Increased urinary porphobilinogen,Frequent (79-30%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0012850,Small intestinal dysmotility,Occasional (29-5%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006619,Orphanet,79273,ORPHA:79273,32,HP:0040319,Dark urine,Frequent (79-30%),TAS,,,,"[PMID:23236641, PMID:31085196]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0001081,Cholelithiasis,Very rare (<4-1%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0001789,Hydrops fetalis,Very rare (<4-1%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0001877,Abnormal erythrocyte morphology,Obligate (100%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0001878,Hemolytic anemia,Occasional (29-5%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0001923,Reticulocytosis,Occasional (29-5%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0002007,Frontal bossing,Very rare (<4-1%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0002027,Abdominal pain,Very rare (<4-1%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0002904,Hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0003265,Neonatal hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0004445,Elliptocytosis,Frequent (79-30%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0004446,Stomatocytosis,Occasional (29-5%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0004447,Poikilocytosis,Occasional (29-5%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0004804,Congenital hemolytic anemia,Occasional (29-5%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0005502,Increased red cell osmotic fragility,Frequent (79-30%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0006579,Prolonged neonatal jaundice,Occasional (29-5%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0008897,Postnatal growth retardation,Very rare (<4-1%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006621,Orphanet,288,ORPHA:288,20,HP:0025143,Chills,Very rare (<4-1%),TAS,,,,"[PMID:23664421, PMID:27667160, PMID:30369757, PMID:3708157, PMID:3801663, PMID:3818958]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0001069,Episodic hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0001254,Lethargy,Very rare (<4-1%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0001942,Metabolic acidosis,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0002148,Hypophosphatemia,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0002149,Hyperuricemia,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0002918,Hypermagnesemia,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0003256,Abnormality of the coagulation cascade,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0012051,Reactive hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0012545,Reduced aldolase level,Very frequent (99-80%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0012622,Chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006622,Orphanet,469,ORPHA:469,24,HP:0100626,Chronic hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:26677512, PMID:28368361, PMID:29552600, PMID:9610797]",y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0000421,Epistaxis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0000524,Conjunctival telangiectasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0001048,Cavernous hemangioma,Frequent (79-30%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0001082,Cholecystitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0001342,Cerebral hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0001409,Portal hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0001935,Microcytic anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0002040,Esophageal varix,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0002138,Subarachnoid hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0007420,Spontaneous hematomas,Frequent (79-30%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0007763,Retinal telangiectasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0011025,Abnormal cardiovascular system physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0100026,Arteriovenous malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0100579,Mucosal telangiectasiae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0100659,Abnormal cerebral vascular morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0100761,Visceral angiomatosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0100784,Peripheral arteriovenous fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0006626,Orphanet,774,ORPHA:774,34,HP:0200008,Intestinal polyposis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006632,Orphanet,676,ORPHA:676,9,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:27603351, PMID:9091646]",y,y +GARD:0006632,Orphanet,676,ORPHA:676,9,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:27603351, PMID:9091646]",y,y +GARD:0006632,Orphanet,676,ORPHA:676,9,HP:0001974,Leukocytosis,Very frequent (99-80%),TAS,,,,"[PMID:27603351, PMID:9091646]",y,y +GARD:0006632,Orphanet,676,ORPHA:676,9,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:27603351, PMID:9091646]",y,y +GARD:0006632,Orphanet,676,ORPHA:676,9,HP:0005213,Pancreatic calcification,Occasional (29-5%),TAS,,,,"[PMID:27603351, PMID:9091646]",y,y +GARD:0006632,Orphanet,676,ORPHA:676,9,HP:0011227,Elevated circulating C-reactive protein concentration,Very frequent (99-80%),TAS,,,,"[PMID:27603351, PMID:9091646]",y,y +GARD:0006632,Orphanet,676,ORPHA:676,9,HP:0012379,Abnormal enzyme/coenzyme activity,Frequent (79-30%),TAS,,,,"[PMID:27603351, PMID:9091646]",y,y +GARD:0006632,Orphanet,676,ORPHA:676,9,HP:0030247,Splanchnic vein thrombosis,Occasional (29-5%),TAS,,,,"[PMID:27603351, PMID:9091646]",y,y +GARD:0006632,Orphanet,676,ORPHA:676,9,HP:0100027,Recurrent pancreatitis,Very frequent (99-80%),TAS,,,,"[PMID:27603351, PMID:9091646]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0001026,Penetrating foot ulcers,Frequent (79-30%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0001058,Poor wound healing,Frequent (79-30%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0002141,Gait imbalance,Very frequent (99-80%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0002270,Abnormality of the autonomic nervous system,Very frequent (99-80%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0002756,Pathologic fracture,Occasional (29-5%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0002821,Neuropathic arthropathy,Occasional (29-5%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0002936,Distal sensory impairment,Very frequent (99-80%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0003376,Steppage gait,Frequent (79-30%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0003693,Distal amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0006937,Impaired distal tactile sensation,Frequent (79-30%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0007002,Motor axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0007021,Pain insensitivity,Frequent (79-30%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0007078,Decreased amplitude of sensory action potentials,Very frequent (99-80%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0007550,Hypohidrosis or hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0009763,Limb pain,Frequent (79-30%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0010829,Impaired temperature sensation,Frequent (79-30%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0010834,Trophic changes related to pain,Frequent (79-30%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0031060,Impaired ability to dress oneself,Very frequent (99-80%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0100287,EMG: slow motor conduction,Occasional (29-5%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006635,Orphanet,36386,ORPHA:36386,29,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,"[PMID:18348718, PMID:20301564, PMID:25042817]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0001081,Cholelithiasis,Frequent (79-30%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0001510,Growth delay,Very rare (<4-1%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0001723,Restrictive cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0001923,Reticulocytosis,Frequent (79-30%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0001978,Extramedullary hematopoiesis,Occasional (29-5%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0001997,Gout,Very rare (<4-1%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0002904,Hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0003270,Abdominal distention,Very rare (<4-1%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0004444,Spherocytosis,Frequent (79-30%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0005502,Increased red cell osmotic fragility,Very frequent (99-80%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0005525,Spontaneous hemolytic crises,Frequent (79-30%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0011900,Hypofibrinogenemia,Frequent (79-30%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0025548,Increased mean corpuscular hemoglobin concentration,Frequent (79-30%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0040186,Maculopapular exanthema,Occasional (29-5%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0100724,Hypercoagulability,Frequent (79-30%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006639,Orphanet,822,ORPHA:822,27,HP:0200042,Skin ulcer,Very rare (<4-1%),TAS,,,,"[PMID:24624460, PMID:28463670, PMID:30511538, PMID:30763822, PMID:30969619]",y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000483,Astigmatism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000587,Abnormality of the optic nerve,Frequent (79-30%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000646,Amblyopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000649,Abnormality of visual evoked potentials,Frequent (79-30%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0000995,Melanocytic nevus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0001010,Hypopigmentation of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0001107,Ocular albinism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0001872,Abnormality of thrombocytes,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0001875,Neutropenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0002206,Pulmonary fibrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0002671,Basal cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0006739,Squamous cell carcinoma of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0007443,Partial albinism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0006643,Orphanet,79430,ORPHA:79430,39,HP:0400008,Menometrorrhagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0002181,Cerebral edema,Occasional (29-5%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0002349,Focal aware seizure,Occasional (29-5%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0004372,Reduced consciousness/confusion,Very frequent (99-80%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0004887,Respiratory failure requiring assisted ventilation,Frequent (79-30%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0007185,Loss of consciousness,Frequent (79-30%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0011227,Elevated circulating C-reactive protein concentration,Occasional (29-5%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0011897,Neutrophilia,Frequent (79-30%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0011972,Hypoglycorrhachia,Occasional (29-5%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0012443,Abnormality of brain morphology,Very frequent (99-80%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0030955,Alcoholism,Occasional (29-5%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0031179,Nuchal rigidity,Frequent (79-30%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006649,Orphanet,1930,ORPHA:1930,30,HP:0200149,CSF lymphocytic pleiocytosis,Very frequent (99-80%),TAS,,,,"[PMID:24768322, PMID:27106239, PMID:29409994, PMID:31292686]",y,y +GARD:0006657,Orphanet,396,ORPHA:396,8,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:1477559, PMID:28759492]",y,y +GARD:0006657,Orphanet,396,ORPHA:396,8,HP:0000775,Abnormality of the diaphragm,Frequent (79-30%),TAS,,,,"[PMID:1477559, PMID:28759492]",y,y +GARD:0006657,Orphanet,396,ORPHA:396,8,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:1477559, PMID:28759492]",y,y +GARD:0006657,Orphanet,396,ORPHA:396,8,HP:0001944,Dehydration,Frequent (79-30%),TAS,,,,"[PMID:1477559, PMID:28759492]",y,y +GARD:0006657,Orphanet,396,ORPHA:396,8,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:1477559, PMID:28759492]",y,y +GARD:0006657,Orphanet,396,ORPHA:396,8,HP:0004395,Malnutrition,Frequent (79-30%),TAS,,,,"[PMID:1477559, PMID:28759492]",y,y +GARD:0006657,Orphanet,396,ORPHA:396,8,HP:0100247,Recurrent singultus,Very frequent (99-80%),TAS,,,,"[PMID:1477559, PMID:28759492]",y,y +GARD:0006657,Orphanet,396,ORPHA:396,8,HP:0100738,Abnormal eating behavior,Frequent (79-30%),TAS,,,,"[PMID:1477559, PMID:28759492]",y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0001531,Failure to thrive in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0002251,Aganglionic megacolon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0005214,Intestinal obstruction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0012719,Functional abnormality of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0100031,Neoplasm of the thyroid gland,Occasional (29-5%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006660,Orphanet,388,ORPHA:388,16,HP:0200008,Intestinal polyposis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006661,Orphanet,2157,ORPHA:2157,7,HP:0000708,Behavioral abnormality,Very rare (<4-1%),TAS,,,,"[PMID:28262611, PMID:8669938]",y,y +GARD:0006661,Orphanet,2157,ORPHA:2157,7,HP:0000752,Hyperactivity,Very rare (<4-1%),TAS,,,,"[PMID:28262611, PMID:8669938]",y,y +GARD:0006661,Orphanet,2157,ORPHA:2157,7,HP:0001328,Specific learning disability,Very rare (<4-1%),TAS,,,,"[PMID:28262611, PMID:8669938]",y,y +GARD:0006661,Orphanet,2157,ORPHA:2157,7,HP:0002167,Neurological speech impairment,Very rare (<4-1%),TAS,,,,"[PMID:28262611, PMID:8669938]",y,y +GARD:0006661,Orphanet,2157,ORPHA:2157,7,HP:0002927,Histidinuria,Obligate (100%),TAS,,,,"[PMID:28262611, PMID:8669938]",y,y +GARD:0006661,Orphanet,2157,ORPHA:2157,7,HP:0010906,Hyperhistidinemia,Obligate (100%),TAS,,,,"[PMID:28262611, PMID:8669938]",y,y +GARD:0006661,Orphanet,2157,ORPHA:2157,7,HP:0011343,Moderate global developmental delay,Very rare (<4-1%),TAS,,,,"[PMID:28262611, PMID:8669938]",y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000161,Median cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000289,Broad philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000437,Depressed nasal tip,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000453,Choanal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000458,Anosmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000528,Anophthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000830,Anterior hypopituitarism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000871,Panhypopituitarism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0000929,Abnormal skull morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001360,Holoprosencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001531,Failure to thrive in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001641,Abnormal pulmonary valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001743,Abnormality of the spleen,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0002002,Deep philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0004409,Hyposmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0005469,Flat occiput,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0006315,Solitary median maxillary central incisor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0006703,Aplasia/Hypoplasia of the lungs,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0008501,Median cleft lip and palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0008572,External ear malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0009738,Abnormal antihelix morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0009794,Branchial anomaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0009804,Tooth agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0009914,Cyclopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0009924,Aplasia/Hypoplasia involving the nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0010301,Spinal dysraphism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0010302,Spinal cord tumor,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0010669,Hypoplasia of the zygomatic bone,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0011100,Intestinal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0012639,Abnormal nervous system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0100336,Bilateral cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006665,Orphanet,2162,ORPHA:2162,93,HP:0100596,Absent nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0000889,Abnormal clavicle morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0000912,Sprengel anomaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0001199,Triphalangeal thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0001678,Atrioventricular block,Frequent (79-30%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0002974,Radioulnar synostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0003063,Abnormality of the humerus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0004383,Hypoplastic left heart,Occasional (29-5%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0004757,Paroxysmal atrial fibrillation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0006501,Aplasia/Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0006695,Atrioventricular canal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0009777,Absent thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0009829,Phocomelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0010772,Anomalous pulmonary venous return,Occasional (29-5%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0011705,First degree atrioventricular block,Frequent (79-30%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006666,Orphanet,392,ORPHA:392,29,HP:0200021,Down-sloping shoulders,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0000646,Amblyopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0000678,Dental crowding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0001025,Urticaria,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0001083,Ectopia lentis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0001519,Disproportionate tall stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0001933,Subcutaneous hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0002040,Esophageal varix,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0002204,Pulmonary embolism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0002637,Cerebral ischemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0004337,Abnormality of amino acid metabolism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0004420,Arterial thrombosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0004936,Venous thrombosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0100026,Arteriovenous malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006667,Orphanet,394,ORPHA:394,42,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000336,Prominent supraorbital ridges,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000362,Otosclerosis,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000488,Retinopathy,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000493,Abnormal foveal morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000546,Retinal degeneration,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000662,Nyctalopia,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000718,Aggressive behavior,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000733,Motor stereotypy,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000822,Hypertension,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0000943,Dysostosis multiplex,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001085,Papilledema,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001129,Large central visual field defect,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001334,Communicating hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001626,Abnormality of the cardiovascular system,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001627,Abnormal heart morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001641,Abnormal pulmonary valve morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001654,Abnormal heart valve morphology,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001702,Abnormal tricuspid valve morphology,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0002028,Chronic diarrhea,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0002176,Spinal cord compression,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0002344,Progressive neurologic deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0002781,Upper airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0003552,Muscle stiffness,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0004582,Irregularity of vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0004950,Peripheral arterial stenosis,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0005781,Contractures of the large joints,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0006979,Sleep-wake cycle disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0007994,Peripheral visual field loss,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0008843,Hip osteoarthritis,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0010535,Sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0010656,Abnormal epiphyseal ossification,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0010865,Oppositional defiant disorder,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0012185,Constrictive median neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0012478,Temporomandibular joint ankylosis,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0025160,Abnormal temper tantrums,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0030044,Flexion contracture of digit,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0030466,Abnormal full-field electroretinogram,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0030812,Enlarged tonsils,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0031416,Abnormal nasal mucus secretion,Occasional (29-5%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0100710,Impulsivity,Very rare (<4-1%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006675,Orphanet,580,ORPHA:580,78,HP:0410018,Recurrent ear infections,Frequent (79-30%),TAS,,,,"[PMID:20301451, PMID:31890590]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0000713,Agitation,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0000734,Disinhibition,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0000738,Hallucinations,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0000746,Delusions,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002072,Chorea,Very frequent (99-80%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002141,Gait imbalance,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002340,Caudate atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002375,Hypokinesia,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0002591,Polyphagia,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0003107,Abnormal circulating cholesterol concentration,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0004408,Abnormality of the sense of smell,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0010794,Impaired visuospatial constructive cognition,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0025401,Staring gaze,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0030842,Choking episodes,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0030955,Alcoholism,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0031473,Hostility,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0031589,Suicidal ideation,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0031843,Bradyphrenia,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0031845,Abnormal libido,Frequent (79-30%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0040140,Degeneration of the striatum,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0045082,Decreased body mass index,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0100785,Insomnia,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006677,Orphanet,399,ORPHA:399,53,HP:0200136,Oral-pharyngeal dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301482, PMID:28221321]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0000504,Abnormality of vision,Excluded (0%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0000533,Chorioretinal atrophy,Occasional (29-5%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0001264,Spastic diplegia,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0001265,Hyporeflexia,Excluded (0%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0001287,Meningitis,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0002179,Opisthotonus,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0006698,Dilatation of the ventricular cavity,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0007023,Antenatal intracerebral hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0008610,Infantile sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0009145,Abnormal cerebral artery morphology,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0010652,Abnormal dura mater morphology,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0010653,Abnormality of the falx cerebri,Excluded (0%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0010994,Abnormal corpus striatum morphology,Very frequent (99-80%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0011328,Abnormality of fontanelles,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0011451,Primary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0025040,Thalamic edema,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0025099,Dysgenesis of the thalamus,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0025258,Stiff neck,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0025517,Hypoplastic hippocampus,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:0410279,Atrophic pituitary gland,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006681,Orphanet,2177,ORPHA:2177,31,HP:3000062,Abnormal internal carotid artery morphology,Frequent (79-30%),TAS,,,,"[PMID:12858931, PMID:18201820, PMID:22610272, PMID:23337012, PMID:23632619, PMID:25326191, PMID:27876178, PMID:6075814]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0001104,Macular hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0001339,Lissencephaly,Very rare (<4-1%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0002472,Small cerebral cortex,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0002536,Abnormal cortical gyration,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006682,Orphanet,2185,ORPHA:2185,21,HP:0030048,Colpocephaly,Frequent (79-30%),TAS,,,,"[PMID:23240096, PMID:28556411, PMID:29225145]",y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0000176,Submucous cleft hard palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0000528,Anophthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0001331,Absent septum pellucidum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0001601,Laryngomalacia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0002086,Abnormality of the respiratory system,Frequent (79-30%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0002139,Arrhinencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0002323,Anencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0002983,Micromelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0004408,Abnormality of the sense of smell,Frequent (79-30%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0011027,Abnormal fallopian tube morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0030690,Gingival cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0100333,Unilateral cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0006683,Orphanet,2189,ORPHA:2189,28,HP:0100682,Tracheal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0000799,Renal steatosis,Occasional (29-5%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0000951,Abnormality of the skin,Very frequent (99-80%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0001084,Corneal arcus,Frequent (79-30%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0001114,Xanthelasma,Frequent (79-30%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0001735,Acute pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0001997,Gout,Occasional (29-5%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0002635,Type IV atherosclerotic lesion,Frequent (79-30%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0003124,Hypercholesterolemia,Very frequent (99-80%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0003141,Increased LDL cholesterol concentration,Very frequent (99-80%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0003233,Decreased HDL cholesterol concentration,Very frequent (99-80%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0004943,Accelerated atherosclerosis,Occasional (29-5%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0004950,Peripheral arterial stenosis,Occasional (29-5%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0005181,Premature coronary artery atherosclerosis,Occasional (29-5%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0010874,Tendon xanthomatosis,Frequent (79-30%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006703,Orphanet,412,ORPHA:412,22,HP:0012397,Aortic atherosclerotic lesion,Occasional (29-5%),TAS,,,,"[PMID:1531990, PMID:1728471, PMID:20452521, PMID:25111166, PMID:25768710, PMID:26103610, PMID:8185134]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0000511,Vertical supranuclear gaze palsy,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0000597,Ophthalmoparesis,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0001345,Psychotic mentation,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0002154,Hyperglycinemia,Frequent (79-30%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0002490,Increased CSF lactate,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0002921,Abnormality of the cerebrospinal fluid,Very frequent (99-80%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0002936,Distal sensory impairment,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0003080,Hydroxyprolinuria,Very frequent (99-80%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0003137,Prolinuria,Very frequent (99-80%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0003348,Hyperalaninemia,Frequent (79-30%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0008326,Reduced circulating vitamin B6 level,Frequent (79-30%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0008358,Hyperprolinemia,Very frequent (99-80%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0009088,Speech articulation difficulties,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0011152,Early onset absence seizures,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0011199,EEG with generalized sharp slow waves,Frequent (79-30%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0012402,Increased urine alpha-ketoglutarate concentration,Very frequent (99-80%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0012432,Chronic fatigue,Frequent (79-30%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006710,Orphanet,79101,ORPHA:79101,51,HP:0012534,Dysesthesia,Occasional (29-5%),TAS,,,,"[PMID:22516612, PMID:24173411, PMID:24931297, PMID:31884946]",y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0000944,Abnormality of the metaphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0001831,Short toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0002644,Abnormality of pelvic girdle bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0002823,Abnormality of femur morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0003416,Spinal canal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006724,Orphanet,429,ORPHA:429,20,HP:0011405,Childhood onset short-limb short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0000509,Conjunctivitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0000554,Uveitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0002097,Emphysema,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0002105,Hemoptysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0002718,Recurrent bacterial infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0004431,Complement deficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0006536,Airway obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0007400,Irregular hyperpigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0011944,Small vessel vasculitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0100021,Cerebral palsy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0100326,Immunologic hypersensitivity,Occasional (29-5%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0100533,Inflammatory abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0100534,Episcleritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0100665,Angioedema,Frequent (79-30%),TAS,,,,,y,y +GARD:0006725,Orphanet,36412,ORPHA:36412,47,HP:0100820,Glomerulopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0002203,Respiratory paralysis,Very rare (<4-1%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0002486,Myotonia,Excluded (0%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0003470,Paralysis,Very frequent (99-80%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0003694,Late-onset proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0003752,Episodic flaccid weakness,Very frequent (99-80%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0004303,Abnormal muscle fiber morphology,Very frequent (99-80%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0006670,Impaired myocardial contractility,Excluded (0%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0008153,Periodic hypokalemic paresis,Obligate (100%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0008180,Mildly elevated creatine kinase,Very frequent (99-80%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0008256,Adrenocortical adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0009020,Exercise-induced muscle fatigue,Frequent (79-30%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0011998,Postprandial hyperglycemia,Frequent (79-30%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0012240,Increased intramyocellular lipid droplets,Very frequent (99-80%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0012726,Episodic hypokalemia,Obligate (100%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006729,Orphanet,681,ORPHA:681,16,HP:0030196,Fatigable weakness of respiratory muscles,Very rare (<4-1%),TAS,,,,"[PMID:10074484, PMID:15534250, PMID:16467598, PMID:2276049, PMID:26935888, PMID:3659246, PMID:5353150, PMID:5637755, PMID:6022527, PMID:9066893, http://www.ncbi.nlm.nih.gov/books/NBK1338]",y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0001024,Skin dimple over apex of long bone angulation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0001531,Failure to thrive in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0002097,Emphysema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0003072,Hypercalcemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006734,Orphanet,436,ORPHA:436,20,HP:0010781,Skin dimple,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0000117,Renal phosphate wasting,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0000121,Nephrocalcinosis,Very rare (<4-1%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0000694,Odontodysplasia,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0000836,Hyperthyroidism,Very rare (<4-1%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0000843,Hyperparathyroidism,Very rare (<4-1%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0002148,Hypophosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0002150,Hypercalciuria,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0002748,Rickets,Very frequent (99-80%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0002749,Osteomalacia,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0003072,Hypercalcemia,Very rare (<4-1%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0003109,Hyperphosphaturia,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0003127,Hypocalciuria,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0003165,Elevated circulating parathyroid hormone level,Very rare (<4-1%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0003498,Disproportionate short stature,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0004484,Craniofacial asymmetry,Very rare (<4-1%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0004963,Calcification of the aorta,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0005464,Craniofacial osteosclerosis,Very rare (<4-1%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0006487,Bowing of the long bones,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0007565,Multiple cafe-au-lait spots,Very rare (<4-1%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0008208,Parathyroid hyperplasia,Very rare (<4-1%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0010659,Patchy variation in bone mineral density,Very rare (<4-1%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0010734,Fibrous dysplasia of the bones,Very rare (<4-1%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0010766,Ectopic calcification,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0012052,Low serum calcitriol,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0020110,Bone fracture,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0030757,Tooth abscess,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0030758,Periapical tooth abscess,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0040069,Abnormal lower limb bone morphology,Frequent (79-30%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0100512,Low levels of vitamin D,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0100686,Enthesitis,Occasional (29-5%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006735,Orphanet,437,ORPHA:437,39,HP:0100774,Hyperostosis,Very rare (<4-1%),TAS,,,,"[PMID:23108197, PMID:30454743]",y,y +GARD:0006739,Orphanet,2248,ORPHA:2248,8,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006739,Orphanet,2248,ORPHA:2248,8,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006739,Orphanet,2248,ORPHA:2248,8,HP:0001718,Mitral stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006739,Orphanet,2248,ORPHA:2248,8,HP:0002916,Abnormality of chromosome segregation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006739,Orphanet,2248,ORPHA:2248,8,HP:0004383,Hypoplastic left heart,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006739,Orphanet,2248,ORPHA:2248,8,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,,y,y +GARD:0006739,Orphanet,2248,ORPHA:2248,8,HP:0011560,Mitral atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006739,Orphanet,2248,ORPHA:2248,8,HP:0012304,Hypoplastic aortic arch,Frequent (79-30%),TAS,,,,,y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0000388,Otitis media,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0000586,Shallow orbits,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001538,Protuberant abdomen,Very frequent (99-80%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001540,Diastasis recti,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001609,Hoarse voice,Very frequent (99-80%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001633,Abnormal mitral valve morphology,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001646,Abnormal aortic valve morphology,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001653,Mitral regurgitation,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001744,Splenomegaly,Very rare (<4-1%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0002213,Fine hair,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0002474,Expressive language delay,Very frequent (99-80%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0003273,Hip contracture,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0004887,Respiratory failure requiring assisted ventilation,Very rare (<4-1%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0006203,Decreased movement range in interphalangeal joints,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0006248,Limited wrist movement,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0006467,Limited shoulder movement,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0006596,Restricted chest movement,Very frequent (99-80%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0007421,Telangiectases of the cheeks,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0010307,Stridor,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0010444,Pulmonary insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0011314,Abnormality of long bone morphology,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0011359,Dry hair,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0011364,White hair,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0011471,Gastrostomy tube feeding in infancy,Very rare (<4-1%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0012389,Appendicular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0031650,Abnormal atrioventricular valve physiology,Very frequent (99-80%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0045027,Abnormality of the thoracic cavity,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006749,Orphanet,576,ORPHA:576,63,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20301728, PMID:31687257]",y,y +GARD:0006760,Orphanet,85193,ORPHA:85193,6,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006760,Orphanet,85193,ORPHA:85193,6,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0006760,Orphanet,85193,ORPHA:85193,6,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006760,Orphanet,85193,ORPHA:85193,6,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006760,Orphanet,85193,ORPHA:85193,6,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006760,Orphanet,85193,ORPHA:85193,6,HP:0002953,Vertebral compression fracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0000099,Glomerulonephritis,Very rare (<4-1%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0001891,Iron deficiency anemia,Very frequent (99-80%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0002105,Hemoptysis,Frequent (79-30%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0002113,Pulmonary infiltrates,Frequent (79-30%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0002923,Rheumatoid factor positive,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0003262,Smooth muscle antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0003453,Antineutrophil antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0012393,Allergy,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0025179,Ground-glass opacification,Frequent (79-30%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0025390,Reticular pattern on pulmonary HRCT,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0025392,Nodular pattern on pulmonary HRCT,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0025420,Diffuse alveolar hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0030057,Autoimmune antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0030148,Heart murmur,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0030830,Crackles,Occasional (29-5%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006763,Orphanet,99931,ORPHA:99931,29,HP:0100327,Cow milk allergy,Very rare (<4-1%),TAS,,,,"[PMID:30278795, PMID:32644388, PMID:33246295]",y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000364,Hearing abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000491,Keratitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000532,Abnormal chorioretinal morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000573,Retinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001804,Hypoplastic fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001810,Dystrophic toenail,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001821,Broad nail,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0001880,Eosinophilia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0002558,Supernumerary nipple,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0002637,Cerebral ischemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0002797,Osteolysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0004050,Absent hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0004097,Deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0005815,Supernumerary ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0005922,Abnormal hand morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0007850,Retinal vascular proliferation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0008388,Abnormal toenail morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0008402,Ridged fingernail,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0010978,Abnormality of immune system physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0100555,Asymmetric growth,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0006778,Orphanet,464,ORPHA:464,67,HP:0200043,Verrucae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006793,Orphanet,84142,ORPHA:84142,12,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,[PMID:25736532],y,y +GARD:0006793,Orphanet,84142,ORPHA:84142,12,HP:0001324,Muscle weakness,Very rare (<4-1%),TAS,,,,[PMID:25736532],y,y +GARD:0006793,Orphanet,84142,ORPHA:84142,12,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,[PMID:25736532],y,y +GARD:0006793,Orphanet,84142,ORPHA:84142,12,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,[PMID:25736532],y,y +GARD:0006793,Orphanet,84142,ORPHA:84142,12,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,[PMID:25736532],y,y +GARD:0006793,Orphanet,84142,ORPHA:84142,12,HP:0002411,Myokymia,Frequent (79-30%),TAS,,,,[PMID:25736532],y,y +GARD:0006793,Orphanet,84142,ORPHA:84142,12,HP:0002936,Distal sensory impairment,Occasional (29-5%),TAS,,,,[PMID:25736532],y,y +GARD:0006793,Orphanet,84142,ORPHA:84142,12,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,[PMID:25736532],y,y +GARD:0006793,Orphanet,84142,ORPHA:84142,12,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,[PMID:25736532],y,y +GARD:0006793,Orphanet,84142,ORPHA:84142,12,HP:0008981,Calf muscle hypertrophy,Frequent (79-30%),TAS,,,,[PMID:25736532],y,y +GARD:0006793,Orphanet,84142,ORPHA:84142,12,HP:0010546,Muscle fibrillation,Frequent (79-30%),TAS,,,,[PMID:25736532],y,y +GARD:0006793,Orphanet,84142,ORPHA:84142,12,HP:0100288,EMG: myokymic discharges,Frequent (79-30%),TAS,,,,[PMID:25736532],y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0000262,Turricephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0001783,Broad metatarsal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0001839,Split foot,Occasional (29-5%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0001841,Preaxial foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0002991,Abnormality of fibula morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0009773,Symphalangism affecting the phalanges of the hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0009891,Underdeveloped supraorbital ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0010059,Broad hallux phalanx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0010743,Short metatarsal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006796,Orphanet,1540,ORPHA:1540,21,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0000273,Facial grimacing,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0000298,Mask-like facies,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002060,Abnormal cerebral morphology,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002179,Opisthotonus,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002181,Cerebral edema,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002203,Respiratory paralysis,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002339,Abnormal caudate nucleus morphology,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002383,Infectious encephalitis,Very frequent (99-80%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002396,Cogwheel rigidity,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002418,Abnormal midbrain morphology,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002516,Increased intracranial pressure,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002793,Abnormal pattern of respiration,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002816,Genu recurvatum,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0003431,Decreased motor nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0003444,EMG: chronic denervation signs,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0003470,Paralysis,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0003496,Increased circulating IgM level,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0003781,Excessive salivation,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0004372,Reduced consciousness/confusion,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0007277,Paucity of anterior horn motor neurons,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0007361,Abnormal pons morphology,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0007695,Abnormal pupillary light reflex,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0007941,Limited extraocular movements,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0008959,Distal upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0010543,Opsoclonus,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0010546,Muscle fibrillation,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0010547,Muscle flaccidity,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0010549,Weakness due to upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0010663,Abnormality of thalamus morphology,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0010851,EEG with burst suppression,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0011153,Focal motor seizure,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0011182,Interictal epileptiform activity,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0011468,Facial tics,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0011897,Neutrophilia,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0012195,Irregular respiration,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0012229,CSF pleocytosis,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0012502,Abnormality of the internal capsule,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0012692,Focal T2 hyperintense thalamic lesion,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0025143,Chills,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0025145,Rigors,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0025258,Stiff neck,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0025387,Pill-rolling tremor,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0030826,Eyelid fasciculation,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0031218,Inappropriate antidiuretic hormone secretion,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0040272,Hyperintensity of MRI T2 signal of the spinal cord,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0045007,Abnormal substantia nigra morphology,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0100598,Pulmonary edema,Occasional (29-5%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006797,Orphanet,79139,ORPHA:79139,82,HP:0200149,CSF lymphocytic pleiocytosis,Frequent (79-30%),TAS,,,,"[PMID:23141974, PMID:25015504, PMID:30455264]",y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000008,Abnormal morphology of female internal genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000069,Abnormality of the ureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000269,Prominent occiput,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0000902,Rib fusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0003422,Vertebral segmentation defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0005108,Abnormal intervertebral disk morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0006655,Rib segmentation abnormalities,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0010772,Anomalous pulmonary venous return,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0006798,Orphanet,2311,ORPHA:2311,38,HP:0100589,Urogenital fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0000230,Gingivitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0000964,Eczema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0001595,Abnormal hair morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0001818,Paronychia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0001880,Eosinophilia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0002617,Vascular dilatation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0003212,Increased circulating IgE level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0008391,Dystrophic fingernails,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0011354,Generalized abnormality of skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0100750,Atelectasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0200034,Papule,Frequent (79-30%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0200037,Skin vesicle,Occasional (29-5%),TAS,,,,,y,y +GARD:0006800,Orphanet,2314,ORPHA:2314,35,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0000590,Progressive external ophthalmoplegia,Very frequent (99-80%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0000651,Diplopia,Very frequent (99-80%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0001605,Vocal cord paralysis,Occasional (29-5%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0001751,Vestibular dysfunction,Occasional (29-5%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0002071,Abnormality of extrapyramidal motor function,Very frequent (99-80%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0002312,Clumsiness,Very frequent (99-80%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0004370,Abnormality of temperature regulation,Occasional (29-5%),TAS,,,,[PMID:20301375],y,y +GARD:0006801,Orphanet,98757,ORPHA:98757,16,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,[PMID:20301375],y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0000276,Long face,Frequent (79-30%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0000657,Oculomotor apraxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0001320,Cerebellar vermis hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0001696,Situs inversus totalis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0001829,Foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0002104,Apnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0002793,Abnormal pattern of respiration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0002876,Episodic tachypnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006802,Orphanet,475,ORPHA:475,37,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0001029,Poikiloderma,Frequent (79-30%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0002633,Vasculitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0003457,EMG abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0003761,Calcinosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0011227,Elevated circulating C-reactive protein concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0011710,Bundle branch block,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0012735,Cough,Occasional (29-5%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0100540,Palpebral edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0100579,Mucosal telangiectasiae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0100614,Myositis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006805,Orphanet,93672,ORPHA:93672,45,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0000147,Polycystic ovaries,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0000834,Abnormality of the adrenal glands,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0002028,Chronic diarrhea,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0002570,Steatorrhea,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0002659,Increased susceptibility to fractures,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0002718,Recurrent bacterial infections,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0002749,Osteomalacia,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0003011,Abnormality of the musculature,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0010515,Aplasia/Hypoplasia of the thymus,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0011024,Abnormality of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006807,Orphanet,2176,ORPHA:2176,37,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,[PMID:14508707],y,y +GARD:0006808,Orphanet,307,ORPHA:307,11,HP:0000153,Abnormality of the mouth,Frequent (79-30%),TAS,,,,"[PMID:10648364, PMID:1619419, PMID:1638202, PMID:3140737, PMID:8503795, PMID:9259280]",y,y +GARD:0006808,Orphanet,307,ORPHA:307,11,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:10648364, PMID:1619419, PMID:1638202, PMID:3140737, PMID:8503795, PMID:9259280]",y,y +GARD:0006808,Orphanet,307,ORPHA:307,11,HP:0000718,Aggressive behavior,Very rare (<4-1%),TAS,,,,"[PMID:10648364, PMID:1619419, PMID:1638202, PMID:3140737, PMID:8503795, PMID:9259280]",y,y +GARD:0006808,Orphanet,307,ORPHA:307,11,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:10648364, PMID:1619419, PMID:1638202, PMID:3140737, PMID:8503795, PMID:9259280]",y,y +GARD:0006808,Orphanet,307,ORPHA:307,11,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:10648364, PMID:1619419, PMID:1638202, PMID:3140737, PMID:8503795, PMID:9259280]",y,y +GARD:0006808,Orphanet,307,ORPHA:307,11,HP:0002133,Status epilepticus,Very rare (<4-1%),TAS,,,,"[PMID:10648364, PMID:1619419, PMID:1638202, PMID:3140737, PMID:8503795, PMID:9259280]",y,y +GARD:0006808,Orphanet,307,ORPHA:307,11,HP:0002197,Generalized-onset seizure,Very frequent (99-80%),TAS,,,,"[PMID:10648364, PMID:1619419, PMID:1638202, PMID:3140737, PMID:8503795, PMID:9259280]",y,y +GARD:0006808,Orphanet,307,ORPHA:307,11,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:10648364, PMID:1619419, PMID:1638202, PMID:3140737, PMID:8503795, PMID:9259280]",y,y +GARD:0006808,Orphanet,307,ORPHA:307,11,HP:0002392,EEG with polyspike wave complexes,Very frequent (99-80%),TAS,,,,"[PMID:10648364, PMID:1619419, PMID:1638202, PMID:3140737, PMID:8503795, PMID:9259280]",y,y +GARD:0006808,Orphanet,307,ORPHA:307,11,HP:0007000,Morning myoclonic jerks,Very frequent (99-80%),TAS,,,,"[PMID:10648364, PMID:1619419, PMID:1638202, PMID:3140737, PMID:8503795, PMID:9259280]",y,y +GARD:0006808,Orphanet,307,ORPHA:307,11,HP:0007207,Photosensitive tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:10648364, PMID:1619419, PMID:1638202, PMID:3140737, PMID:8503795, PMID:9259280]",y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000074,Ureteropelvic junction obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000081,Duplicated collecting system,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000298,Mask-like facies,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000527,Long eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000589,Coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0001680,Coarctation of aorta,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0002000,Short columella,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0002937,Hemivertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0003316,Butterfly vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0004736,Crossed fused renal ectopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0005338,Sparse lateral eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0005819,Short middle phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0007655,Eversion of lateral third of lower eyelids,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0008428,Vertebral clefting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0009237,Short 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0010978,Abnormality of immune system physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0100267,Lip pit,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0006810,Orphanet,2322,ORPHA:2322,63,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0000479,Abnormal retinal morphology,Frequent (79-30%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0001028,Hemangioma,Frequent (79-30%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0001034,Hypermelanotic macule,Very frequent (99-80%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0001298,Encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0001743,Abnormality of the spleen,Frequent (79-30%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0002088,Abnormal lung morphology,Occasional (29-5%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0002814,Abnormality of the lower limb,Very frequent (99-80%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0005293,Venous insufficiency,Occasional (29-5%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0005353,Recurrent herpes,Obligate (100%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0005523,Lymphoproliferative disorder,Frequent (79-30%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0008069,Neoplasm of the skin,Very frequent (99-80%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0008940,Generalized lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0011024,Abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0011793,Neoplasm by anatomical site,Occasional (29-5%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0200034,Papule,Frequent (79-30%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0200035,Skin plaque,Occasional (29-5%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006814,Orphanet,33276,ORPHA:33276,26,HP:0200036,Skin nodule,Frequent (79-30%),TAS,,,,"[PMID:11994760, PMID:12705742]",y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0000206,Glossitis,Frequent (79-30%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0000509,Conjunctivitis,Very frequent (99-80%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0000969,Edema,Frequent (79-30%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0001082,Cholecystitis,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0001654,Abnormal heart valve morphology,Frequent (79-30%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0001701,Pericarditis,Frequent (79-30%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0001945,Fever,Frequent (79-30%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0002633,Vasculitis,Very frequent (99-80%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0004970,Ascending tubular aorta aneurysm,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0011658,Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0025289,Cervical lymphadenopathy,Very frequent (99-80%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0025493,Palmoplantar erythema,Very frequent (99-80%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0100586,Sterile pyuria,Occasional (29-5%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0100643,Abnormality of nail color,Frequent (79-30%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0100776,Recurrent pharyngitis,Very frequent (99-80%),TAS,,,,[PMID:15505111],y,y +GARD:0006816,Orphanet,2331,ORPHA:2331,36,HP:0100825,Cheilitis,Very frequent (99-80%),TAS,,,,[PMID:15505111],y,y +GARD:0006817,Orphanet,480,ORPHA:480,14,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006817,Orphanet,480,ORPHA:480,14,HP:0000590,Progressive external ophthalmoplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006817,Orphanet,480,ORPHA:480,14,HP:0000830,Anterior hypopituitarism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006817,Orphanet,480,ORPHA:480,14,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006817,Orphanet,480,ORPHA:480,14,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006817,Orphanet,480,ORPHA:480,14,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,,y,y +GARD:0006817,Orphanet,480,ORPHA:480,14,HP:0001709,Third degree atrioventricular block,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006817,Orphanet,480,ORPHA:480,14,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006817,Orphanet,480,ORPHA:480,14,HP:0003200,Ragged-red muscle fibers,Frequent (79-30%),TAS,,,,,y,y +GARD:0006817,Orphanet,480,ORPHA:480,14,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006817,Orphanet,480,ORPHA:480,14,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0006817,Orphanet,480,ORPHA:480,14,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006817,Orphanet,480,ORPHA:480,14,HP:0004622,Progressive intervertebral space narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0006817,Orphanet,480,ORPHA:480,14,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006818,Orphanet,481,ORPHA:481,13,HP:0000029,Testicular atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006818,Orphanet,481,ORPHA:481,13,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006818,Orphanet,481,ORPHA:481,13,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006818,Orphanet,481,ORPHA:481,13,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006818,Orphanet,481,ORPHA:481,13,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006818,Orphanet,481,ORPHA:481,13,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006818,Orphanet,481,ORPHA:481,13,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006818,Orphanet,481,ORPHA:481,13,HP:0001618,Dysphonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006818,Orphanet,481,ORPHA:481,13,HP:0003119,Abnormal circulating lipid concentration,Occasional (29-5%),TAS,,,,,y,y +GARD:0006818,Orphanet,481,ORPHA:481,13,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006818,Orphanet,481,ORPHA:481,13,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006818,Orphanet,481,ORPHA:481,13,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006818,Orphanet,481,ORPHA:481,13,HP:0100639,Erectile dysfunction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006821,Orphanet,587,ORPHA:587,12,HP:0002896,Neoplasm of the liver,Occasional (29-5%),TAS,,,,,y,y +GARD:0006821,Orphanet,587,ORPHA:587,12,HP:0003002,Breast carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006821,Orphanet,587,ORPHA:587,12,HP:0003003,Colon cancer,Frequent (79-30%),TAS,,,,,y,y +GARD:0006821,Orphanet,587,ORPHA:587,12,HP:0004377,Hematological neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0006821,Orphanet,587,ORPHA:587,12,HP:0006753,Neoplasm of the stomach,Frequent (79-30%),TAS,,,,,y,y +GARD:0006821,Orphanet,587,ORPHA:587,12,HP:0006758,Malignant genitourinary tract tumor,Occasional (29-5%),TAS,,,,,y,y +GARD:0006821,Orphanet,587,ORPHA:587,12,HP:0008069,Neoplasm of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006821,Orphanet,587,ORPHA:587,12,HP:0009720,Adenoma sebaceum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006821,Orphanet,587,ORPHA:587,12,HP:0009726,Renal neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0006821,Orphanet,587,ORPHA:587,12,HP:0012114,Endometrial carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006821,Orphanet,587,ORPHA:587,12,HP:0012118,Laryngeal carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006821,Orphanet,587,ORPHA:587,12,HP:0100684,Salivary gland neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0000155,Oral ulcer,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0000464,Abnormality of the neck,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0002202,Pleural effusion,Very rare (<4-1%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0002240,Hepatomegaly,Very rare (<4-1%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0002633,Vasculitis,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0002733,Abnormality of the lymph nodes,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0003565,Elevated erythrocyte sedimentation rate,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0008940,Generalized lymphadenopathy,Very rare (<4-1%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0011134,Low-grade fever,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0011227,Elevated circulating C-reactive protein concentration,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0011801,Enlargement of parotid gland,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0012733,Macule,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0012819,Myocarditis,Very rare (<4-1%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0025143,Chills,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0025289,Cervical lymphadenopathy,Very frequent (99-80%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0025300,Malar rash,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0025475,Erythematous macule,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0030166,Night sweats,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0100827,Lymphocytosis,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0200029,Vasculitis in the skin,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0200034,Papule,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0200035,Skin plaque,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0200036,Skin nodule,Frequent (79-30%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0200039,Pustule,Very rare (<4-1%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006834,Orphanet,50918,ORPHA:50918,50,HP:0200041,Skin erosion,Occasional (29-5%),TAS,,,,"[PMID:26627522, PMID:27207311]",y,y +GARD:0006835,Orphanet,482,ORPHA:482,5,HP:0001880,Eosinophilia,Very frequent (99-80%),TAS,,,,[PMID:15087670],y,y +GARD:0006835,Orphanet,482,ORPHA:482,5,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,[PMID:15087670],y,y +GARD:0006835,Orphanet,482,ORPHA:482,5,HP:0002729,Follicular hyperplasia,Very frequent (99-80%),TAS,,,,[PMID:15087670],y,y +GARD:0006835,Orphanet,482,ORPHA:482,5,HP:0003212,Increased circulating IgE level,Very frequent (99-80%),TAS,,,,[PMID:15087670],y,y +GARD:0006835,Orphanet,482,ORPHA:482,5,HP:0010286,Abnormal salivary gland morphology,Occasional (29-5%),TAS,,,,[PMID:15087670],y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0000201,Pierre-Robin sequence,Occasional (29-5%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0000256,Macrocephaly,Very rare (<4-1%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0000947,Dumbbell-shaped long bone,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0001367,Abnormal joint morphology,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0001488,Bilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0001591,Bell-shaped thorax,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0002086,Abnormality of the respiratory system,Very rare (<4-1%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0002176,Spinal cord compression,Very rare (<4-1%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0002663,Delayed epiphyseal ossification,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0002949,Fused cervical vertebrae,Occasional (29-5%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0003016,Metaphyseal widening,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0003037,Enlarged joints,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0003040,Arthropathy,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0003051,Enlarged metaphyses,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0003311,Hypoplasia of the odontoid process,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0003330,Abnormal bone structure,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0003417,Coronal cleft vertebrae,Occasional (29-5%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0003498,Disproportionate short stature,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0003521,Disproportionate short-trunk short stature,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0004557,Anterior vertebral fusion,Occasional (29-5%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0006375,Dumbbell-shaped femur,Occasional (29-5%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0006454,Delayed patellar ossification,Occasional (29-5%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0007773,Vitreoretinopathy,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0007964,Degenerative vitreoretinopathy,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0007992,Lattice retinal degeneration,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0008063,Aplasia/Hypoplasia of the lens,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0008271,Abnormal cartilage collagen,Obligate (100%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0008422,Vertebral wedging,Occasional (29-5%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0008755,Laryngotracheomalacia,Very rare (<4-1%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0009815,Aplasia/hypoplasia of the extremities,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0010306,Short thorax,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0010574,Abnormality of the epiphysis of the femoral head,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0010580,Enlarged epiphyses,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0010646,Cervical spine instability,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0011003,High myopia,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0012019,Lens luxation,Occasional (29-5%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0012069,Keratan sulfate excretion in urine,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0012230,Rhegmatogenous retinal detachment,Frequent (79-30%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0012785,Flexion contracture of finger,Very frequent (99-80%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006841,Orphanet,485,ORPHA:485,51,HP:0025474,Erythematous plaque,Occasional (29-5%),TAS,,,,"[PMID:25604898, PMID:2931448, PMID:31021589, PMID:4014370, PMID:4214536]",y,y +GARD:0006842,Orphanet,563991,ORPHA:563991,13,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:30685015, PMID:30838149, PMID:30949007, PMID:31083875]",y,y +GARD:0006842,Orphanet,563991,ORPHA:563991,13,HP:0008131,Tarsal stippling,Frequent (79-30%),TAS,,,,"[PMID:30685015, PMID:30838149, PMID:30949007, PMID:31083875]",y,y +GARD:0006842,Orphanet,563991,ORPHA:563991,13,HP:0008144,Flattening of the talar dome,Frequent (79-30%),TAS,,,,"[PMID:30685015, PMID:30838149, PMID:30949007, PMID:31083875]",y,y +GARD:0006842,Orphanet,563991,ORPHA:563991,13,HP:0008369,Abnormal tarsal ossification,Frequent (79-30%),TAS,,,,"[PMID:30685015, PMID:30838149, PMID:30949007, PMID:31083875]",y,y +GARD:0006842,Orphanet,563991,ORPHA:563991,13,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,"[PMID:30685015, PMID:30838149, PMID:30949007, PMID:31083875]",y,y +GARD:0006842,Orphanet,563991,ORPHA:563991,13,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,"[PMID:30685015, PMID:30838149, PMID:30949007, PMID:31083875]",y,y +GARD:0006842,Orphanet,563991,ORPHA:563991,13,HP:0010886,Osteochondritis dissecans,Occasional (29-5%),TAS,,,,"[PMID:30685015, PMID:30838149, PMID:30949007, PMID:31083875]",y,y +GARD:0006842,Orphanet,563991,ORPHA:563991,13,HP:0025238,Foot pain,Frequent (79-30%),TAS,,,,"[PMID:30685015, PMID:30838149, PMID:30949007, PMID:31083875]",y,y +GARD:0006842,Orphanet,563991,ORPHA:563991,13,HP:0030840,Ankle pain,Frequent (79-30%),TAS,,,,"[PMID:30685015, PMID:30838149, PMID:30949007, PMID:31083875]",y,y +GARD:0006842,Orphanet,563991,ORPHA:563991,13,HP:0031051,Tarsal sclerosis,Frequent (79-30%),TAS,,,,"[PMID:30685015, PMID:30838149, PMID:30949007, PMID:31083875]",y,y +GARD:0006842,Orphanet,563991,ORPHA:563991,13,HP:0031955,Antalgic gait,Frequent (79-30%),TAS,,,,"[PMID:30685015, PMID:30838149, PMID:30949007, PMID:31083875]",y,y +GARD:0006842,Orphanet,563991,ORPHA:563991,13,HP:0100323,Juvenile aseptic necrosis,Occasional (29-5%),TAS,,,,"[PMID:30685015, PMID:30838149, PMID:30949007, PMID:31083875]",y,y +GARD:0006842,Orphanet,563991,ORPHA:563991,13,HP:0100662,Chondritis,Frequent (79-30%),TAS,,,,"[PMID:30685015, PMID:30838149, PMID:30949007, PMID:31083875]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000028,Cryptorchidism,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000076,Vesicoureteral reflux,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000089,Renal hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000126,Hydronephrosis,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000193,Bifid uvula,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000202,Oral cleft,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000217,Xerostomia,Frequent (79-30%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000347,Micrognathia,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000378,Cupped ear,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000410,Mixed hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000453,Choanal atresia,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000458,Anosmia,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000495,Recurrent corneal erosions,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000577,Exotropia,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0000813,Bicornuate uterus,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0001092,Absent lacrimal punctum,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0001096,Keratoconjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0001097,Keratoconjunctivitis sicca,Frequent (79-30%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0001159,Syndactyly,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0001172,Abnormal thumb morphology,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0001263,Global developmental delay,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0001369,Arthritis,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0002164,Nail dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0002984,Hypoplasia of the radius,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0005349,Hypoplasia of the epiglottis,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0006297,Enamel hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0007656,Lacrimal gland aplasia,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0007892,Hypoplasia of the lacrimal punctum,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0007925,Lacrimal duct aplasia,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0008551,Microtia,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0009777,Absent thumb,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0009778,Short thumb,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0009926,Epiphora,Frequent (79-30%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0009942,Duplication of thumb phalanx,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0010286,Abnormal salivary gland morphology,Frequent (79-30%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0011297,Abnormal digit morphology,Frequent (79-30%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0011481,Abnormal lacrimal duct morphology,Frequent (79-30%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0011482,Abnormal lacrimal gland morphology,Frequent (79-30%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0011487,Increased corneal thickness,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0011496,Corneal neovascularization,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0012108,Open angle glaucoma,Very rare (<4-1%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0012155,Decreased corneal sensation,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0012804,Corneal ulceration,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006848,Orphanet,2363,ORPHA:2363,63,HP:0032107,Limbal stem cell deficiency,Occasional (29-5%),TAS,,,,"[PMID:28043400, PMID:28400699, PMID:28483234, PMID:32715658]",y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0000217,Xerostomia,Very frequent (99-80%),TAS,,,,[PMID:22094130],y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0000315,Abnormality of the orbital region,Frequent (79-30%),TAS,,,,[PMID:22094130],y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,[PMID:22094130],y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,[PMID:22094130],y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0001097,Keratoconjunctivitis sicca,Occasional (29-5%),TAS,,,,[PMID:22094130],y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,[PMID:22094130],y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,[PMID:22094130],y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0002483,Bulbar signs,Frequent (79-30%),TAS,,,,[PMID:22094130],y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0003403,EMG: decremental response of compound muscle action potential to repetitive nerve stimulation,Very frequent (99-80%),TAS,,,,[PMID:22094130],y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0004926,Orthostatic hypotension due to autonomic dysfunction,Occasional (29-5%),TAS,,,,[PMID:22094130],y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0009073,Progressive proximal muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:22094130],y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0012332,Abnormal autonomic nervous system physiology,Very frequent (99-80%),TAS,,,,[PMID:22094130],y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0030000,EMG: repetitive nerve stimulation abnormality,Very frequent (99-80%),TAS,,,,[PMID:22094130],y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0030209,Calcium channel antibody positivity,Very frequent (99-80%),TAS,,,,[PMID:22094130],y,y +GARD:0006851,Orphanet,43393,ORPHA:43393,15,HP:0030357,Small cell lung carcinoma,Frequent (79-30%),TAS,,,,[PMID:22094130],y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0002121,Generalized non-motor (absence) seizure,Frequent (79-30%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0002371,Loss of speech,Very frequent (99-80%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0002381,Aphasia,Very frequent (99-80%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0002463,Language impairment,Very frequent (99-80%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0003376,Steppage gait,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0003698,Difficulty standing,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0007086,Social and occupational deterioration,Frequent (79-30%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0007270,Atypical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0011098,Speech apraxia,Very frequent (99-80%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0011153,Focal motor seizure,Frequent (79-30%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0011166,Focal myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0011169,Generalized clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0011198,EEG with generalized epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0012015,EEG with frontal focal spikes,Frequent (79-30%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0012018,EEG with temporal focal spikes,Frequent (79-30%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0025190,Bilateral tonic-clonic seizure with generalized onset,Frequent (79-30%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0025373,Interictal EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0030057,Autoimmune antibody positivity,Very rare (<4-1%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0030391,Spoken word recognition deficit,Very frequent (99-80%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0031491,Continuous spike and waves during slow sleep,Very frequent (99-80%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0031951,Nocturnal seizures,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0032671,Non-convulsive status epilepticus without coma,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006855,Orphanet,98818,ORPHA:98818,44,HP:0200134,Epileptic encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:30537476, PMID:31149903, PMID:31613525, PMID:32257722]",y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0000457,Depressed nasal ridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0000691,Microdontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0000818,Abnormality of the endocrine system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0000929,Abnormal skull morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0001620,High pitched voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0001956,Truncal obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0003124,Hypercholesterolemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0005281,Hypoplastic nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0007495,Prematurely aged appearance,Occasional (29-5%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0009891,Underdeveloped supraorbital ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0006859,Orphanet,633,ORPHA:633,29,HP:0009924,Aplasia/Hypoplasia involving the nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0001799,Short nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0003319,Abnormality of the cervical spine,Occasional (29-5%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0004232,Accessory carpal bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0005008,Large joint dislocations,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0008755,Laryngotracheomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0009836,Broad distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006860,Orphanet,503,ORPHA:503,27,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006865,Orphanet,2373,ORPHA:2373,4,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006865,Orphanet,2373,ORPHA:2373,4,HP:0001601,Laryngomalacia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006865,Orphanet,2373,ORPHA:2373,4,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006865,Orphanet,2373,ORPHA:2373,4,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0000003,Multicystic kidney dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0000580,Pigmentary retinopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0001395,Hepatic fibrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0008724,Hypoplasia of the ovary,Frequent (79-30%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006866,Orphanet,110,ORPHA:110,25,HP:0010747,Medial flaring of the eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0000512,Abnormal electroretinogram,Frequent (79-30%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0000532,Abnormal chorioretinal morphology,Occasional (29-5%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0000533,Chorioretinal atrophy,Occasional (29-5%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0000577,Exotropia,Frequent (79-30%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0000662,Nyctalopia,Occasional (29-5%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0001939,Abnormality of metabolism/homeostasis,Frequent (79-30%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0001985,Hypoketotic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0002611,Cholestatic liver disease,Occasional (29-5%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006867,Orphanet,5,ORPHA:5,25,HP:0030856,Posterior staphyloma,Occasional (29-5%),TAS,,,,"[PMID:11773547, PMID:18162058]",y,y +GARD:0006870,Orphanet,104,ORPHA:104,14,HP:0000576,Centrocecal scotoma,Frequent (79-30%),TAS,,,,[PMID:20301353],y,y +GARD:0006870,Orphanet,104,ORPHA:104,14,HP:0000603,Central scotoma,Frequent (79-30%),TAS,,,,[PMID:20301353],y,y +GARD:0006870,Orphanet,104,ORPHA:104,14,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,[PMID:20301353],y,y +GARD:0006870,Orphanet,104,ORPHA:104,14,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,[PMID:20301353],y,y +GARD:0006870,Orphanet,104,ORPHA:104,14,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:20301353],y,y +GARD:0006870,Orphanet,104,ORPHA:104,14,HP:0002174,Postural tremor,Occasional (29-5%),TAS,,,,[PMID:20301353],y,y +GARD:0006870,Orphanet,104,ORPHA:104,14,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,[PMID:20301353],y,y +GARD:0006870,Orphanet,104,ORPHA:104,14,HP:0004309,Ventricular preexcitation,Occasional (29-5%),TAS,,,,[PMID:20301353],y,y +GARD:0006870,Orphanet,104,ORPHA:104,14,HP:0007763,Retinal telangiectasia,Frequent (79-30%),TAS,,,,[PMID:20301353],y,y +GARD:0006870,Orphanet,104,ORPHA:104,14,HP:0007924,Slow decrease in visual acuity,Very frequent (99-80%),TAS,,,,[PMID:20301353],y,y +GARD:0006870,Orphanet,104,ORPHA:104,14,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,[PMID:20301353],y,y +GARD:0006870,Orphanet,104,ORPHA:104,14,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,[PMID:20301353],y,y +GARD:0006870,Orphanet,104,ORPHA:104,14,HP:0012841,Retinal vascular tortuosity,Frequent (79-30%),TAS,,,,[PMID:20301353],y,y +GARD:0006870,Orphanet,104,ORPHA:104,14,HP:0200125,Mitochondrial respiratory chain defects,Very frequent (99-80%),TAS,,,,[PMID:20301353],y,y +GARD:0006873,Orphanet,199251,ORPHA:199251,5,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,,y,y +GARD:0006873,Orphanet,199251,ORPHA:199251,5,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006873,Orphanet,199251,ORPHA:199251,5,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006873,Orphanet,199251,ORPHA:199251,5,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006873,Orphanet,199251,ORPHA:199251,5,HP:0100679,Lack of skin elasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006874,Orphanet,2380,ORPHA:2380,8,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006874,Orphanet,2380,ORPHA:2380,8,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006874,Orphanet,2380,ORPHA:2380,8,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006874,Orphanet,2380,ORPHA:2380,8,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006874,Orphanet,2380,ORPHA:2380,8,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006874,Orphanet,2380,ORPHA:2380,8,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006874,Orphanet,2380,ORPHA:2380,8,HP:0010885,Avascular necrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006874,Orphanet,2380,ORPHA:2380,8,HP:0100773,Cartilage destruction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0001888,Lymphopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002088,Abnormal lung morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002103,Abnormal pleura morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002113,Pulmonary infiltrates,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0100584,Endocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0100776,Recurrent pharyngitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006876,Orphanet,549,ORPHA:549,42,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0000100,Nephrotic syndrome,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0000124,Renal tubular dysfunction,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0000348,High forehead,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0000400,Macrotia,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0000587,Abnormality of the optic nerve,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0000602,Ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0000964,Eczema,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0000998,Hypertrichosis,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001264,Spastic diplegia,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001272,Cerebellar atrophy,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001511,Intrauterine growth retardation,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001596,Alopecia,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001875,Neutropenia,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001947,Renal tubular acidosis,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001993,Ketoacidosis,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002133,Status epilepticus,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002151,Increased serum lactate,Very frequent (99-80%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002171,Gliosis,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002305,Athetosis,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002344,Progressive neurologic deterioration,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002415,Leukodystrophy,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002487,Hyperkinetic movements,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002490,Increased CSF lactate,Very frequent (99-80%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002542,Olivopontocerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002579,Gastrointestinal dysmotility,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002793,Abnormal pattern of respiration,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002828,Multiple joint contractures,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002909,Generalized aminoaciduria,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0002928,Decreased activity of the pyruvate dehydrogenase complex,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0003219,Ethylmalonic aciduria,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0003348,Hyperalaninemia,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0003390,Sensory axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0003535,3-Methylglutaconic aciduria,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0003648,Lacticaciduria,Very frequent (99-80%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0006943,Diffuse spongiform leukoencephalopathy,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0007183,Focal T2 hyperintense basal ganglia lesion,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0008314,Decreased activity of mitochondrial complex II,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0008336,Complex organic aciduria,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0008347,Decreased activity of mitochondrial complex IV,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0008972,Decreased activity of mitochondrial respiratory chain,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0011335,Frontal hirsutism,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0011923,Decreased activity of mitochondrial complex I,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0011924,Decreased activity of mitochondrial complex III,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0012120,Methylmalonic aciduria,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0012469,Infantile spasms,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0012696,Abnormal thalamic MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0012707,Elevated brain lactate level by MRS,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0012747,Abnormal brainstem MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0012748,Focal T2 hyperintense brainstem lesion,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0012751,Abnormal basal ganglia MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0025356,Psychomotor retardation,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0031691,Severe viral infection,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0040197,Encephalomalacia,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0100321,Abnormal dentate nucleus morphology,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0100660,Dyskinesia,Very rare (<4-1%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0200147,Neuronal loss in basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0410145,Decreased biotinidase level,Occasional (29-5%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006877,Orphanet,506,ORPHA:506,98,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:23772060, PMID:26425749, PMID:26506407]",y,y +GARD:0006878,Orphanet,314,ORPHA:314,4,HP:0001051,Seborrheic dermatitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006878,Orphanet,314,ORPHA:314,4,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006878,Orphanet,314,ORPHA:314,4,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006878,Orphanet,314,ORPHA:314,4,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0000163,Abnormal oral cavity morphology,Very frequent (99-80%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0001876,Pancytopenia,Very frequent (99-80%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0001954,Recurrent fever,Very frequent (99-80%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0004311,Abnormal macrophage morphology,Very frequent (99-80%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0011830,Abnormal oral mucosa morphology,Very frequent (99-80%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0012384,Rhinitis,Very frequent (99-80%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0030166,Night sweats,Very frequent (99-80%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0200035,Skin plaque,Very frequent (99-80%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006881,Orphanet,507,ORPHA:507,25,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,"[PMID:26568335, PMID:26682298, PMID:27004573, PMID:27347283]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000040,Long penis,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000065,Labial hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000105,Enlarged kidney,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000307,Pointed chin,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000842,Hyperinsulinemia,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000848,Increased circulating renin level,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000859,Hyperaldosteronism,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000956,Acanthosis nigricans,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000974,Hyperextensible skin,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0000998,Hypertrichosis,Very frequent (99-80%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0001833,Long foot,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0002035,Rectal prolapse,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0002150,Hypercalciuria,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0002219,Facial hypertrichosis,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0002900,Hypokalemia,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0003162,Fasting hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0003247,Overgrowth of external genitalia,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0003758,Reduced subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0004405,Prominent nipples,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0004914,Recurrent infantile hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0008665,Clitoral hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0008846,Severe intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0011787,Central hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0011998,Postprandial hyperglycemia,Very frequent (99-80%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0025024,Megarectum,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006885,Orphanet,508,ORPHA:508,47,HP:0100879,Enlarged ovaries,Occasional (29-5%),TAS,,,,"[PMID:29148123, PMID:29369573, PMID:31840185]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0000501,Glaucoma,Very rare (<4-1%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0000554,Uveitis,Very rare (<4-1%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0000771,Gynecomastia,Very rare (<4-1%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0000834,Abnormality of the adrenal glands,Very rare (<4-1%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0001026,Penetrating foot ulcers,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0001101,Iritis,Very rare (<4-1%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0001392,Abnormality of the liver,Very rare (<4-1%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0001743,Abnormality of the spleen,Very rare (<4-1%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0002087,Abnormality of the upper respiratory tract,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0002223,Absent eyebrow,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0002231,Sparse body hair,Frequent (79-30%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0003376,Steppage gait,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0003489,Acute episodes of neuropathic symptoms,Frequent (79-30%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0005561,Abnormality of bone marrow cell morphology,Very rare (<4-1%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0006121,Acral ulceration,Frequent (79-30%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0007460,Autoamputation of digits,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0009027,Foot dorsiflexor weakness,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0010827,Abnormality of the seventh cranial nerve,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0010829,Impaired temperature sensation,Frequent (79-30%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0010835,Dissociated sensory loss,Frequent (79-30%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0011334,Facial shape deformation,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0011457,Loss of eyelashes,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0011821,Abnormal facial skeleton morphology,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0012155,Decreased corneal sensation,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0012181,Entrapment neuropathy,Frequent (79-30%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0012185,Constrictive median neuropathy,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0012500,Verrucous papule,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0012534,Dysesthesia,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0012645,Enlarged peripheral nerve,Frequent (79-30%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0012804,Corneal ulceration,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0020073,Hypopigmented macule,Frequent (79-30%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0030003,Paralytic lagophthalmos,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0030351,Urticarial plaque,Occasional (29-5%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0032404,Testicular mass,Very rare (<4-1%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0100583,Corneal perforation,Very rare (<4-1%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006886,Orphanet,548,ORPHA:548,46,HP:0200036,Skin nodule,Frequent (79-30%),TAS,,,,"[PMID:25432808, PMID:28763601]",y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0001161,Hand polydactyly,Very frequent (99-80%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0002126,Polymicrogyria,Very frequent (99-80%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0002516,Increased intracranial pressure,Very frequent (99-80%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0010619,Fibroadenoma of the breast,Frequent (79-30%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0012081,Enlarged cerebellum,Very frequent (99-80%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0012844,Trichilemmoma,Frequent (79-30%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0100031,Neoplasm of the thyroid gland,Frequent (79-30%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0100615,Ovarian neoplasm,Frequent (79-30%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0200016,Acrokeratosis,Frequent (79-30%),TAS,,,,[PMID:18781191],y,y +GARD:0006901,Orphanet,65285,ORPHA:65285,18,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,[PMID:18781191],y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0001909,Leukemia,Occasional (29-5%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0002664,Neoplasm,Very frequent (99-80%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0002669,Osteosarcoma,Occasional (29-5%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0002859,Rhabdomyosarcoma,Occasional (29-5%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0002861,Melanoma,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0002863,Myelodysplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0002885,Medulloblastoma,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0002888,Ependymoma,Occasional (29-5%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0002890,Thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0002894,Neoplasm of the pancreas,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0003002,Breast carcinoma,Frequent (79-30%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0003003,Colon cancer,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0004808,Acute myeloid leukemia,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0006721,Acute lymphoblastic leukemia,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0006744,Adrenocortical carcinoma,Occasional (29-5%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0007378,Neoplasm of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0009592,Astrocytoma,Occasional (29-5%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0009726,Renal neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0010788,Testicular neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0012125,Prostate cancer,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0012126,Stomach cancer,Occasional (29-5%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0012174,Glioblastoma multiforme,Occasional (29-5%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0012189,Hodgkin lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0012288,Neoplasm of head and neck,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0012539,Non-Hodgkin lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0030070,Central primitive neuroectodermal tumor,Occasional (29-5%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0030392,Choroid plexus carcinoma,Occasional (29-5%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0100006,Neoplasm of the central nervous system,Occasional (29-5%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0100526,Neoplasm of the lung,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0100605,Neoplasm of the larynx,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0100615,Ovarian neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0100743,Neoplasm of the rectum,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0100768,Choriocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006902,Orphanet,524,ORPHA:524,35,HP:0200063,Colorectal polyposis,Occasional (29-5%),TAS,,,,"[PMID:20301488, PMID:21552135]",y,y +GARD:0006913,Orphanet,69078,ORPHA:69078,9,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,[PMID:24093169],y,y +GARD:0006913,Orphanet,69078,ORPHA:69078,9,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,[PMID:24093169],y,y +GARD:0006913,Orphanet,69078,ORPHA:69078,9,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,[PMID:24093169],y,y +GARD:0006913,Orphanet,69078,ORPHA:69078,9,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,[PMID:24093169],y,y +GARD:0006913,Orphanet,69078,ORPHA:69078,9,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,[PMID:24093169],y,y +GARD:0006913,Orphanet,69078,ORPHA:69078,9,HP:0002619,Varicose veins,Occasional (29-5%),TAS,,,,[PMID:24093169],y,y +GARD:0006913,Orphanet,69078,ORPHA:69078,9,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,[PMID:24093169],y,y +GARD:0006913,Orphanet,69078,ORPHA:69078,9,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,[PMID:24093169],y,y +GARD:0006913,Orphanet,69078,ORPHA:69078,9,HP:0100242,Sarcoma,Very frequent (99-80%),TAS,,,,[PMID:24093169],y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0001302,Pachygyria,Frequent (79-30%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0002339,Abnormal caudate nucleus morphology,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0002463,Language impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0002835,Aspiration,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0003808,Abnormal muscle tone,Frequent (79-30%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0005484,Secondary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0007015,Poor gross motor coordination,Frequent (79-30%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0012469,Infantile spasms,Frequent (79-30%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0012520,Dilation of Virchow-Robin spaces,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0012672,Akinetic mutism,Frequent (79-30%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0012762,Cerebral white matter atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0031882,Agyria,Frequent (79-30%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0100021,Cerebral palsy,Frequent (79-30%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006914,Orphanet,2148,ORPHA:2148,30,HP:0200134,Epileptic encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:20301364, PMID:28440899]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0000236,Abnormality of the anterior fontanelle,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0000509,Conjunctivitis,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0000572,Visual loss,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0000952,Jaundice,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0001082,Cholecystitis,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0001287,Meningitis,Frequent (79-30%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0001701,Pericarditis,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0001919,Acute kidney injury,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002090,Pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002098,Respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002383,Infectious encephalitis,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002586,Peritonitis,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002754,Osteomyelitis,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0002955,Granulomatosis,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0003095,Septic arthritis,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0003201,Rhabdomyolysis,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0004302,Functional motor deficit,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0005521,Disseminated intravascular coagulation,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0007432,Intermittent generalized erythematous papular rash,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0010987,Abnormal cellular immune system morphology,Frequent (79-30%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0011450,Unusual CNS infection,Frequent (79-30%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0011955,Hepatic granulomatosis,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0011972,Hypoglycorrhachia,Frequent (79-30%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0012089,Arteritis,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0012330,Pyelonephritis,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0012747,Abnormal brainstem MRI signal intensity,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0012819,Myocarditis,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0025059,Splenic abscess,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0025143,Chills,Frequent (79-30%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0025258,Stiff neck,Frequent (79-30%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0025615,Abscess,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0030049,Brain abscess,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0031179,Nuchal rigidity,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0031864,Bacteremia,Frequent (79-30%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0032162,Unusual skin infection,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0100523,Liver abscess,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0100584,Endocarditis,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006915,Orphanet,533,ORPHA:533,68,HP:0200039,Pustule,Very rare (<4-1%),TAS,,,,"[PMID:25241232, PMID:31837132, PMID:8994747]",y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0000651,Diplopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0002273,Tetraparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0002425,Anarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0002445,Tetraplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0003781,Excessive salivation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,,y,y +GARD:0006919,Orphanet,2406,ORPHA:2406,16,HP:0100021,Cerebral palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006940,Orphanet,33314,ORPHA:33314,6,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006940,Orphanet,33314,ORPHA:33314,6,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0006940,Orphanet,33314,ORPHA:33314,6,HP:0004332,Abnormal lymphocyte morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006940,Orphanet,33314,ORPHA:33314,6,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006940,Orphanet,33314,ORPHA:33314,6,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006940,Orphanet,33314,ORPHA:33314,6,HP:0200035,Skin plaque,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0000965,Cutis marmorata,Frequent (79-30%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0001034,Hypermelanotic macule,Frequent (79-30%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0001052,Nevus flammeus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0001161,Hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0001829,Foot polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0002637,Cerebral ischemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0012639,Abnormal nervous system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0100026,Arteriovenous malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0100555,Asymmetric growth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006950,Orphanet,60040,ORPHA:60040,35,HP:0100761,Visceral angiomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006953,Orphanet,98969,ORPHA:98969,11,HP:0000484,Hyperopic astigmatism,Occasional (29-5%),TAS,,,,"[PMID:13790593, PMID:29604391, PMID:30716718, PMID:6447876]",y,y +GARD:0006953,Orphanet,98969,ORPHA:98969,11,HP:0000495,Recurrent corneal erosions,Frequent (79-30%),TAS,,,,"[PMID:13790593, PMID:29604391, PMID:30716718, PMID:6447876]",y,y +GARD:0006953,Orphanet,98969,ORPHA:98969,11,HP:0000531,Corneal crystals,Very frequent (99-80%),TAS,,,,"[PMID:13790593, PMID:29604391, PMID:30716718, PMID:6447876]",y,y +GARD:0006953,Orphanet,98969,ORPHA:98969,11,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:13790593, PMID:29604391, PMID:30716718, PMID:6447876]",y,y +GARD:0006953,Orphanet,98969,ORPHA:98969,11,HP:0001141,Severely reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:13790593, PMID:29604391, PMID:30716718, PMID:6447876]",y,y +GARD:0006953,Orphanet,98969,ORPHA:98969,11,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,"[PMID:13790593, PMID:29604391, PMID:30716718, PMID:6447876]",y,y +GARD:0006953,Orphanet,98969,ORPHA:98969,11,HP:0007759,Opacification of the corneal stroma,Very frequent (99-80%),TAS,,,,"[PMID:13790593, PMID:29604391, PMID:30716718, PMID:6447876]",y,y +GARD:0006953,Orphanet,98969,ORPHA:98969,11,HP:0007856,Punctate opacification of the cornea,Very frequent (99-80%),TAS,,,,"[PMID:13790593, PMID:29604391, PMID:30716718, PMID:6447876]",y,y +GARD:0006953,Orphanet,98969,ORPHA:98969,11,HP:0012155,Decreased corneal sensation,Occasional (29-5%),TAS,,,,"[PMID:13790593, PMID:29604391, PMID:30716718, PMID:6447876]",y,y +GARD:0006953,Orphanet,98969,ORPHA:98969,11,HP:0100689,Decreased corneal thickness,Frequent (79-30%),TAS,,,,"[PMID:13790593, PMID:29604391, PMID:30716718, PMID:6447876]",y,y +GARD:0006953,Orphanet,98969,ORPHA:98969,11,HP:0200026,Ocular pain,Occasional (29-5%),TAS,,,,"[PMID:13790593, PMID:29604391, PMID:30716718, PMID:6447876]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0002100,Recurrent aspiration pneumonia,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0002171,Gliosis,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0002367,Visual hallucinations,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0002446,Astrocytosis,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0002493,Upper motor neuron dysfunction,Occasional (29-5%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0002521,Hypsarrhythmia,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0002529,Neuronal loss in central nervous system,Very frequent (99-80%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0004887,Respiratory failure requiring assisted ventilation,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0006790,Cerebral cortex with spongiform changes,Very frequent (99-80%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0006801,Hyperactive deep tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0012672,Akinetic mutism,Very frequent (99-80%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0030890,Hyperintensity of cerebral white matter on MRI,Very frequent (99-80%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006956,Orphanet,204,ORPHA:204,28,HP:0100806,Sepsis,Frequent (79-30%),TAS,,,,"[PMID:27222346, PMID:28028861, PMID:30631881]",y,y +GARD:0006957,Orphanet,2398,ORPHA:2398,10,HP:0000855,Insulin resistance,Frequent (79-30%),TAS,,,,,y,y +GARD:0006957,Orphanet,2398,ORPHA:2398,10,HP:0001012,Multiple lipomas,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006957,Orphanet,2398,ORPHA:2398,10,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0006957,Orphanet,2398,ORPHA:2398,10,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,,y,y +GARD:0006957,Orphanet,2398,ORPHA:2398,10,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006957,Orphanet,2398,ORPHA:2398,10,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0006957,Orphanet,2398,ORPHA:2398,10,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006957,Orphanet,2398,ORPHA:2398,10,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006957,Orphanet,2398,ORPHA:2398,10,HP:0009124,Abnormal adipose tissue morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006957,Orphanet,2398,ORPHA:2398,10,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0000853,Goiter,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0002893,Pituitary adenoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0002897,Parathyroid adenoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0003002,Breast carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0004936,Venous thrombosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0005701,Multiple enchondromatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0006765,Chondrosarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0007461,Hemangiomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0009592,Astrocytoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0100021,Cerebral palsy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0100242,Sarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0100615,Ovarian neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0100641,Neoplasm of the adrenal cortex,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0100733,Neoplasm of the parathyroid gland,Occasional (29-5%),TAS,,,,,y,y +GARD:0006958,Orphanet,163634,ORPHA:163634,24,HP:0100777,Exostoses,Frequent (79-30%),TAS,,,,,y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0001751,Vestibular dysfunction,Excluded (0%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0002141,Gait imbalance,Frequent (79-30%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0030826,Eyelid fasciculation,Occasional (29-5%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006959,Orphanet,210272,ORPHA:210272,17,HP:0410263,Brain imaging abnormality,Excluded (0%),TAS,,,,"[PMID:26559820, PMID:31580016, PMID:32986636]",y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0000012,Urinary urgency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0000019,Urinary hesitancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0000140,Abnormality of the menstrual cycle,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0000157,Abnormality of the tongue,Occasional (29-5%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0000464,Abnormality of the neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0000790,Hematuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0002729,Follicular hyperplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0011123,Inflammatory abnormality of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0012735,Cough,Occasional (29-5%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0100273,Neoplasm of the colon,Occasional (29-5%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0100518,Dysuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0100577,Urinary bladder inflammation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0100743,Neoplasm of the rectum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0100787,Prostate neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0100796,Orchitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006960,Orphanet,556,ORPHA:556,27,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0001871,Abnormality of blood and blood-forming tissues,Frequent (79-30%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0001919,Acute kidney injury,Very frequent (99-80%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0002011,Morphological central nervous system abnormality,Very frequent (99-80%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0002141,Gait imbalance,Frequent (79-30%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0002904,Hyperbilirubinemia,Frequent (79-30%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0004372,Reduced consciousness/confusion,Frequent (79-30%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0011227,Elevated circulating C-reactive protein concentration,Very frequent (99-80%),TAS,,,,[PMID:27175507],y,y +GARD:0006961,Orphanet,673,ORPHA:673,16,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,[PMID:27175507],y,y +GARD:0006963,Orphanet,2023,ORPHA:2023,9,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0006963,Orphanet,2023,ORPHA:2023,9,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0006963,Orphanet,2023,ORPHA:2023,9,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006963,Orphanet,2023,ORPHA:2023,9,HP:0002585,Abnormality of the peritoneum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006963,Orphanet,2023,ORPHA:2023,9,HP:0002814,Abnormality of the lower limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006963,Orphanet,2023,ORPHA:2023,9,HP:0002817,Abnormality of the upper limb,Occasional (29-5%),TAS,,,,,y,y +GARD:0006963,Orphanet,2023,ORPHA:2023,9,HP:0003011,Abnormality of the musculature,Frequent (79-30%),TAS,,,,,y,y +GARD:0006963,Orphanet,2023,ORPHA:2023,9,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0006963,Orphanet,2023,ORPHA:2023,9,HP:0030448,Soft tissue sarcoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0001722,High-output congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0002047,Malignant hyperthermia,Frequent (79-30%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0002153,Hyperkalemia,Occasional (29-5%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0002905,Hyperphosphatemia,Frequent (79-30%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0002913,Myoglobinuria,Occasional (29-5%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0003011,Abnormality of the musculature,Frequent (79-30%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0003256,Abnormality of the coagulation cascade,Occasional (29-5%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0004755,Supraventricular tachycardia,Frequent (79-30%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0004756,Ventricular tachycardia,Frequent (79-30%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0006554,Acute hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0006682,Premature ventricular contraction,Occasional (29-5%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0008331,Elevated creatine kinase after exercise,Occasional (29-5%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0008942,Acute rhabdomyolysis,Occasional (29-5%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0008978,Necrotizing myopathy,Occasional (29-5%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0009045,Exercise-induced rhabdomyolysis,Occasional (29-5%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0011964,Intermittent painful muscle spasms,Frequent (79-30%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0012416,Hypercapnia,Frequent (79-30%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:0031320,Cardiomyocyte mitochondrial proliferation,Frequent (79-30%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006964,Orphanet,423,ORPHA:423,24,HP:3000005,Abnormality of masseter muscle,Occasional (29-5%),TAS,,,,"[PMID:13885389, PMID:2121248738, PMID:26238698, PMID:6072352, PMID:7887423, PMID:7951247, PMID:9175745, PMID:9508059]",y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000189,Narrow palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000336,Prominent supraorbital ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000687,Widely spaced teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0004493,Craniofacial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0005978,Type II diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0006487,Bowing of the long bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0008821,Hypoplastic inferior ilia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0010807,Open bite,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0011039,Abnormal helix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0011354,Generalized abnormality of skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0006968,Orphanet,61,ORPHA:61,42,HP:0100240,Synostosis of joints,Occasional (29-5%),TAS,,,,,y,y +GARD:0006969,Orphanet,52416,ORPHA:52416,9,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,[PMID:12548600],y,y +GARD:0006969,Orphanet,52416,ORPHA:52416,9,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,[PMID:12548600],y,y +GARD:0006969,Orphanet,52416,ORPHA:52416,9,HP:0001945,Fever,Frequent (79-30%),TAS,,,,[PMID:12548600],y,y +GARD:0006969,Orphanet,52416,ORPHA:52416,9,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,[PMID:12548600],y,y +GARD:0006969,Orphanet,52416,ORPHA:52416,9,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,[PMID:12548600],y,y +GARD:0006969,Orphanet,52416,ORPHA:52416,9,HP:0005561,Abnormality of bone marrow cell morphology,Frequent (79-30%),TAS,,,,[PMID:12548600],y,y +GARD:0006969,Orphanet,52416,ORPHA:52416,9,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,[PMID:12548600],y,y +GARD:0006969,Orphanet,52416,ORPHA:52416,9,HP:0012191,B-cell lymphoma,Very frequent (99-80%),TAS,,,,[PMID:12548600],y,y +GARD:0006969,Orphanet,52416,ORPHA:52416,9,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,[PMID:12548600],y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0000746,Delusions,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0001259,Coma,Frequent (79-30%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0001273,Abnormal corpus callosum morphology,Very frequent (99-80%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002134,Abnormality of the basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002186,Apraxia,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002273,Tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002367,Visual hallucinations,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002476,Primitive reflex,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0002922,Increased CSF protein,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0004395,Malnutrition,Very frequent (99-80%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0007185,Loss of consciousness,Frequent (79-30%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0007305,CNS demyelination,Frequent (79-30%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0010522,Dyslexia,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0010526,Dysgraphia,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0030784,Anomic aphasia,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0030955,Alcoholism,Very frequent (99-80%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0031258,Delirium,Occasional (29-5%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0100503,Low levels of vitamin B1,Very frequent (99-80%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006971,Orphanet,221074,ORPHA:221074,50,HP:0100851,Abnormal emotion/affect behavior,Frequent (79-30%),TAS,,,,"[PMID:23978380, PMID:29384842, PMID:30252263]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0000078,Abnormality of the genital system,Very rare (<4-1%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0000453,Choanal atresia,Very rare (<4-1%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0000589,Coloboma,Very rare (<4-1%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0000646,Amblyopia,Frequent (79-30%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0000787,Nephrolithiasis,Very rare (<4-1%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0004408,Abnormality of the sense of smell,Very rare (<4-1%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0007687,Unilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0008897,Postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0010824,Abnormal fifth cranial nerve morphology,Frequent (79-30%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0012803,Anisometropia,Occasional (29-5%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0020041,Double elevator palsy,Occasional (29-5%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0025186,Marcus Gunn jaw winking synkinesis,Obligate (100%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0025514,Morning glory anomaly,Very rare (<4-1%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0025584,Hypotropia,Frequent (79-30%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0031703,Abnormal ear morphology,Very rare (<4-1%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0031747,Superior rectus muscle underaction,Occasional (29-5%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006972,Orphanet,91412,ORPHA:91412,21,HP:0410030,Cleft lip,Very rare (<4-1%),TAS,,,,"[PMID:27608283, PMID:32644484, PMID:33598261]",y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000036,Abnormal penis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000039,Epispadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000072,Hydroureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000176,Submucous cleft hard palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000193,Bifid uvula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000298,Mask-like facies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001331,Absent septum pellucidum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001460,Aplasia/Hypoplasia involving the skeletal musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001651,Dextrocardia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001696,Situs inversus totalis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001840,Metatarsus adductus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0002334,Abnormal cerebellar vermis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0002974,Radioulnar synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0003560,Muscular dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0004307,Abnormal anatomic location of the heart,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0010935,Abnormality of the upper urinary tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0012745,Short palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006973,Orphanet,2461,ORPHA:2461,61,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000215,Thick upper lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000646,Amblyopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000653,Sparse eyelashes,Occasional (29-5%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0001083,Ectopia lentis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0002684,Thickened calvaria,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0002738,Hypoplastic frontal sinuses,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0004327,Abnormal vitreous humor morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0007773,Vitreoretinopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006984,Orphanet,560,ORPHA:560,42,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0002659,Increased susceptibility to fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0003100,Slender long bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0010808,Protruding tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006985,Orphanet,561,ORPHA:561,29,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006986,Orphanet,2466,ORPHA:2466,13,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006986,Orphanet,2466,ORPHA:2466,13,HP:0001188,Hand clenching,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006986,Orphanet,2466,ORPHA:2466,13,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006986,Orphanet,2466,ORPHA:2466,13,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006986,Orphanet,2466,ORPHA:2466,13,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006986,Orphanet,2466,ORPHA:2466,13,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006986,Orphanet,2466,ORPHA:2466,13,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006986,Orphanet,2466,ORPHA:2466,13,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006986,Orphanet,2466,ORPHA:2466,13,HP:0002381,Aphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006986,Orphanet,2466,ORPHA:2466,13,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006986,Orphanet,2466,ORPHA:2466,13,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006986,Orphanet,2466,ORPHA:2466,13,HP:0004374,Hemiplegia/hemiparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006986,Orphanet,2466,ORPHA:2466,13,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0002488,Acute leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0005558,Chronic leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0010829,Impaired temperature sensation,Frequent (79-30%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0012735,Cough,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0100242,Sarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0100326,Immunologic hypersensitivity,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0100495,Mastocytosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0100585,Telangiectasia of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0006987,Orphanet,98292,ORPHA:98292,28,HP:0100665,Angioedema,Occasional (29-5%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0001065,Striae distensae,Frequent (79-30%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0002000,Short columella,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0004609,Patchy distortion of vertebrae,Frequent (79-30%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0005288,Abnormality of the nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0008428,Vertebral clefting,Frequent (79-30%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0009804,Tooth agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0010185,Aplasia/Hypoplasia of the distal phalanges of the toes,Occasional (29-5%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0010807,Open bite,Frequent (79-30%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0011892,Low levels of vitamin K,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006992,Orphanet,1248,ORPHA:1248,20,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000035,Abnormal testis morphology,Frequent (79-30%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000053,Macroorchidism,Frequent (79-30%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000117,Renal phosphate wasting,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000124,Renal tubular dysfunction,Frequent (79-30%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000138,Ovarian cyst,Very frequent (99-80%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000144,Decreased fertility,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000271,Abnormality of the face,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000572,Visual loss,Very rare (<4-1%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000820,Abnormality of the thyroid gland,Frequent (79-30%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000826,Precocious puberty,Very frequent (99-80%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000836,Hyperthyroidism,Frequent (79-30%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000845,Elevated circulating growth hormone concentration,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000853,Goiter,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000858,Irregular menstruation,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0000870,Increased circulating prolactin concentration,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0001396,Cholestasis,Very rare (<4-1%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0001507,Growth abnormality,Frequent (79-30%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0001579,Primary hypercortisolism,Very rare (<4-1%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0001742,Nasal congestion,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0001876,Pancytopenia,Very rare (<4-1%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0002148,Hypophosphatemia,Very rare (<4-1%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0002693,Abnormality of the skull base,Frequent (79-30%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0002749,Osteomalacia,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0002823,Abnormality of femur morphology,Frequent (79-30%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0003002,Breast carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0003109,Hyperphosphaturia,Very rare (<4-1%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0003118,Increased circulating cortisol level,Very rare (<4-1%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0005528,Bone marrow hypocellularity,Very rare (<4-1%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0005605,Large cafe-au-lait macules with irregular margins,Very frequent (99-80%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0006719,Benign gastrointestinal tract tumors,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0008768,Inappropriate sexual behavior,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0010734,Fibrous dysplasia of the bones,Frequent (79-30%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0010735,Polyostotic fibrous dysplasia,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0010736,Monostotic fibrous dysplasia,Frequent (79-30%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0010791,Hyperplasia of the Leydig cells,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0011821,Abnormal facial skeleton morphology,Frequent (79-30%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0012028,Hepatocellular adenoma,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0012063,Aneurysmal bone cyst,Very rare (<4-1%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0012115,Hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0020110,Bone fracture,Occasional (29-5%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0030088,Increased serum testosterone level,Frequent (79-30%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0030428,Cutaneous myxoma,Very rare (<4-1%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006995,Orphanet,562,ORPHA:562,53,HP:0031072,Abnormal endocrine physiology,Very frequent (99-80%),TAS,,,,"[PMID:25719192, PMID:26209174]",y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000457,Depressed nasal ridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000592,Blue sclerae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000940,Abnormal diaphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0001377,Limited elbow extension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0001638,Cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0001671,Abnormal cardiac septum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0001732,Abnormality of the pancreas,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0001875,Neutropenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0002644,Abnormality of pelvic girdle bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0002777,Tracheal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0002982,Tibial bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0003220,Abnormality of chromosome stability,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0003307,Hyperlordosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0004625,Biconvex vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0005019,Diaphyseal thickening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0005616,Accelerated skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0005871,Metaphyseal chondrodysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0006589,Flaring of lower rib cage,Frequent (79-30%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0008155,Mucopolysacchariduria,Frequent (79-30%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0008499,High hypermetropia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0009832,Abnormal distal phalanx morphology of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0010301,Spinal dysraphism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0010306,Short thorax,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0011849,Abnormal bone ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0012722,Heart block,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0100255,Metaphyseal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0100569,Abnormally ossified vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0100729,Large face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0006996,Orphanet,175,ORPHA:175,79,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0007004,Orphanet,1332,ORPHA:1332,14,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:20943788, PMID:21346073, PMID:21717441, PMID:22162466, PMID:22170709, PMID:23744408, PMID:24261394, PMID:24942936, PMID:25490273, PMID:25810047]",y,y +GARD:0007004,Orphanet,1332,ORPHA:1332,14,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,"[PMID:20943788, PMID:21346073, PMID:21717441, PMID:22162466, PMID:22170709, PMID:23744408, PMID:24261394, PMID:24942936, PMID:25490273, PMID:25810047]",y,y +GARD:0007004,Orphanet,1332,ORPHA:1332,14,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:20943788, PMID:21346073, PMID:21717441, PMID:22162466, PMID:22170709, PMID:23744408, PMID:24261394, PMID:24942936, PMID:25490273, PMID:25810047]",y,y +GARD:0007004,Orphanet,1332,ORPHA:1332,14,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:20943788, PMID:21346073, PMID:21717441, PMID:22162466, PMID:22170709, PMID:23744408, PMID:24261394, PMID:24942936, PMID:25490273, PMID:25810047]",y,y +GARD:0007004,Orphanet,1332,ORPHA:1332,14,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:20943788, PMID:21346073, PMID:21717441, PMID:22162466, PMID:22170709, PMID:23744408, PMID:24261394, PMID:24942936, PMID:25490273, PMID:25810047]",y,y +GARD:0007004,Orphanet,1332,ORPHA:1332,14,HP:0002666,Pheochromocytoma,Occasional (29-5%),TAS,,,,"[PMID:20943788, PMID:21346073, PMID:21717441, PMID:22162466, PMID:22170709, PMID:23744408, PMID:24261394, PMID:24942936, PMID:25490273, PMID:25810047]",y,y +GARD:0007004,Orphanet,1332,ORPHA:1332,14,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:20943788, PMID:21346073, PMID:21717441, PMID:22162466, PMID:22170709, PMID:23744408, PMID:24261394, PMID:24942936, PMID:25490273, PMID:25810047]",y,y +GARD:0007004,Orphanet,1332,ORPHA:1332,14,HP:0002865,Medullary thyroid carcinoma,Obligate (100%),TAS,,,,"[PMID:20943788, PMID:21346073, PMID:21717441, PMID:22162466, PMID:22170709, PMID:23744408, PMID:24261394, PMID:24942936, PMID:25490273, PMID:25810047]",y,y +GARD:0007004,Orphanet,1332,ORPHA:1332,14,HP:0003528,Elevated calcitonin,Very frequent (99-80%),TAS,,,,"[PMID:20943788, PMID:21346073, PMID:21717441, PMID:22162466, PMID:22170709, PMID:23744408, PMID:24261394, PMID:24942936, PMID:25490273, PMID:25810047]",y,y +GARD:0007004,Orphanet,1332,ORPHA:1332,14,HP:0005994,Nodular goiter,Very frequent (99-80%),TAS,,,,"[PMID:20943788, PMID:21346073, PMID:21717441, PMID:22162466, PMID:22170709, PMID:23744408, PMID:24261394, PMID:24942936, PMID:25490273, PMID:25810047]",y,y +GARD:0007004,Orphanet,1332,ORPHA:1332,14,HP:0008200,Primary hyperparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:20943788, PMID:21346073, PMID:21717441, PMID:22162466, PMID:22170709, PMID:23744408, PMID:24261394, PMID:24942936, PMID:25490273, PMID:25810047]",y,y +GARD:0007004,Orphanet,1332,ORPHA:1332,14,HP:0010622,Neoplasm of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:20943788, PMID:21346073, PMID:21717441, PMID:22162466, PMID:22170709, PMID:23744408, PMID:24261394, PMID:24942936, PMID:25490273, PMID:25810047]",y,y +GARD:0007004,Orphanet,1332,ORPHA:1332,14,HP:0030146,Abnormal liver parenchyma morphology,Occasional (29-5%),TAS,,,,"[PMID:20943788, PMID:21346073, PMID:21717441, PMID:22162466, PMID:22170709, PMID:23744408, PMID:24261394, PMID:24942936, PMID:25490273, PMID:25810047]",y,y +GARD:0007004,Orphanet,1332,ORPHA:1332,14,HP:0100526,Neoplasm of the lung,Occasional (29-5%),TAS,,,,"[PMID:20943788, PMID:21346073, PMID:21717441, PMID:22162466, PMID:22170709, PMID:23744408, PMID:24261394, PMID:24942936, PMID:25490273, PMID:25810047]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0000529,Progressive visual loss,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0001291,Abnormal cranial nerve morphology,Frequent (79-30%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0002350,Cerebellar cyst,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0002516,Increased intracranial pressure,Frequent (79-30%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0002885,Medulloblastoma,Obligate (100%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0002910,Elevated hepatic transaminase,Very rare (<4-1%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0003006,Neuroblastoma,Very rare (<4-1%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0004481,Progressive macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0005227,Adenomatous colonic polyposis,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0005561,Abnormality of bone marrow cell morphology,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0007129,Cerebellar medulloblastoma,Frequent (79-30%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0007352,Cerebellar calcifications,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0007824,Total ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0008619,Bilateral sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0009878,Cerebellar ataxia associated with quadrupedal gait,Frequent (79-30%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0010302,Spinal cord tumor,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0011695,Cerebellar hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0012658,Abnormal brain FDG positron emission tomography,Frequent (79-30%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0100526,Neoplasm of the lung,Very rare (<4-1%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007005,Orphanet,616,ORPHA:616,34,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:1599290, PMID:18031705, PMID:7661930]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0000206,Glossitis,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0001889,Megaloblastic anemia,Very frequent (99-80%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0001923,Reticulocytosis,Frequent (79-30%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0001972,Macrocytic anemia,Very frequent (99-80%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0002721,Immunodeficiency,Very rare (<4-1%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0004821,Hypersegmentation of neutrophil nuclei,Very frequent (99-80%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0004823,Anisopoikilocytosis,Frequent (79-30%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0020061,Abnormal hemoglobin concentration,Frequent (79-30%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0030318,Angular cheilitis,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0031936,Delayed ability to walk,Occasional (29-5%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0032566,Oval macrocytosis,Frequent (79-30%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0100502,Vitamin B12 deficiency,Obligate (100%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0200118,Malabsorption of Vitamin B12,Obligate (100%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007006,Orphanet,35858,ORPHA:35858,30,HP:0410216,Abnormal blood 5-methyltetrahydrofolate level,Obligate (100%),TAS,,,,"[PMID:24044590, PMID:32412981, PMID:32613615, PMID:33491342]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000044,Hypogonadotropic hypogonadism,Very rare (<4-1%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000097,Focal segmental glomerulosclerosis,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000114,Proximal tubulopathy,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000590,Progressive external ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000709,Psychosis,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000751,Personality changes,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000829,Hypoparathyroidism,Very rare (<4-1%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0000998,Hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001298,Encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001345,Psychotic mentation,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001716,Wolff-Parkinson-White syndrome,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002076,Migraine,Very frequent (99-80%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002135,Basal ganglia calcification,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002151,Increased serum lactate,Very frequent (99-80%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002331,Recurrent paroxysmal headache,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002381,Aphasia,Very frequent (99-80%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002401,Stroke-like episode,Very frequent (99-80%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002490,Increased CSF lactate,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002579,Gastrointestinal dysmotility,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0003200,Ragged-red muscle fibers,Very frequent (99-80%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0003546,Exercise intolerance,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0004389,Intestinal pseudo-obstruction,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0005157,Concentric hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0007067,Distal peripheral sensory neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0007141,Sensorimotor neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0007159,Fluctuations in consciousness,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0007302,Bipolar affective disorder,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0007327,Mixed demyelinating and axonal polyneuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0008316,Abnormal mitochondria in muscle tissue,Very frequent (99-80%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0010794,Impaired visuospatial constructive cognition,Frequent (79-30%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0011442,Abnormal central motor function,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0012429,Aplasia/Hypoplasia of the cerebral white matter,Very frequent (99-80%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0012707,Elevated brain lactate level by MRS,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0012766,Widened cerebral subarachnoid space,Very frequent (99-80%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0025268,Stuttering,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0031546,Cardiac conduction abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0100027,Recurrent pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007009,Orphanet,550,ORPHA:550,87,HP:0100651,Type I diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20301411, PMID:29289801, PMID:30500480]",y,y +GARD:0007010,Orphanet,2483,ORPHA:2483,14,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007010,Orphanet,2483,ORPHA:2483,14,HP:0000221,Furrowed tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0007010,Orphanet,2483,ORPHA:2483,14,HP:0000298,Mask-like facies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007010,Orphanet,2483,ORPHA:2483,14,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007010,Orphanet,2483,ORPHA:2483,14,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007010,Orphanet,2483,ORPHA:2483,14,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0007010,Orphanet,2483,ORPHA:2483,14,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007010,Orphanet,2483,ORPHA:2483,14,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007010,Orphanet,2483,ORPHA:2483,14,HP:0010471,Oligosacchariduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007010,Orphanet,2483,ORPHA:2483,14,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007010,Orphanet,2483,ORPHA:2483,14,HP:0011123,Inflammatory abnormality of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007010,Orphanet,2483,ORPHA:2483,14,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007010,Orphanet,2483,ORPHA:2483,14,HP:0100539,Periorbital edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007010,Orphanet,2483,ORPHA:2483,14,HP:0100825,Cheilitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000270,Delayed cranial suture closure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000336,Prominent supraorbital ridges,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000692,Tooth malposition,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000894,Short clavicles,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0002673,Coxa valga,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0002879,Anisospondyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0003172,Abnormality of the pubic bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0004493,Craniofacial hyperostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0009771,Osteolytic defects of the phalanges of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0010230,Cone-shaped epiphyses of the phalanges of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0007011,Orphanet,2484,ORPHA:2484,35,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0000020,Urinary incontinence,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0000141,Amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0000360,Tinnitus,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0000520,Proptosis,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0000712,Emotional lability,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0000870,Increased circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0001067,Neurofibromas,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0001085,Papilledema,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0001262,Excessive daytime somnolence,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0001279,Syncope,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0001342,Cerebral hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0002167,Neurological speech impairment,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0002512,Brain stem compression,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0002920,Decreased circulating ACTH level,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0003418,Back pain,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0003484,Upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0004408,Abnormality of the sense of smell,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0006520,Progressive pulmonary function impairment,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0007340,Lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0007715,Weak extraocular muscles,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0007924,Slow decrease in visual acuity,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0008069,Neoplasm of the skin,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0008163,Decreased circulating cortisol level,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0008202,Reduced circulating prolactin concentration,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0008214,Decreased serum estradiol,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0008237,Hypothalamic hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0008240,Secondary growth hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0010534,Transient global amnesia,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0010828,Hemifacial spasm,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0010997,Chromosomal breakage induced by ionizing radiation,Very frequent (99-80%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0011133,Increased sensitivity to ionizing radiation,Very frequent (99-80%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0011442,Abnormal central motor function,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0011730,Abnormal central sensory function,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0011750,Neoplasm of the anterior pituitary,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0011752,Neoplasm of the posterior pituitary,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0012246,Oculomotor nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0012285,Abnormal hypothalamus physiology,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0012505,Enlarged pituitary gland,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0012658,Abnormal brain FDG positron emission tomography,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0012691,Focal T2 hypointense thalamic lesion,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0030341,Decreased circulating follicle stimulating hormone concentration,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0030344,Decreased circulating luteinizing hormone level,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0030521,Bitemporal hemianopia,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0030532,Visual acuity test abnormality,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0030591,Abnormal kinetic perimetry test,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0030766,Ear pain,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0030878,Abnormality on pulmonary function testing,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0040171,Decreased serum testosterone concentration,Frequent (79-30%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0045026,Abnormality of the mediastinum,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0100009,Intracranial meningioma,Very frequent (99-80%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0100010,Spinal meningioma,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0100648,Neoplasm of the tongue,Very rare (<4-1%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007015,Orphanet,2495,ORPHA:2495,74,HP:0100661,Trigeminal neuralgia,Occasional (29-5%),TAS,,,,"[PMID:10560602, PMID:11376799, PMID:15135603, PMID:15452322, PMID:16762094, PMID:17580362, PMID:19864997, PMID:20433281, PMID:21629022, PMID:21804547, PMID:22094004, PMID:22288971, PMID:24755950, PMID:27235182, PMID:8334619]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0001919,Acute kidney injury,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0002572,Episodic vomiting,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0002900,Hypokalemia,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0006515,Interstitial pneumonitis,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0007185,Loss of consciousness,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007021,Orphanet,330021,ORPHA:330021,21,HP:0100785,Insomnia,Frequent (79-30%),TAS,,,,"[PMID:26678598, PMID:26807265]",y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0002088,Abnormal lung morphology,Occasional (29-5%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0002103,Abnormal pleura morphology,Frequent (79-30%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0002202,Pleural effusion,Very frequent (99-80%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0002795,Abnormal respiratory system physiology,Occasional (29-5%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0007011,Fourth cranial nerve palsy,Occasional (29-5%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0011025,Abnormal cardiovascular system physiology,Occasional (29-5%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0012735,Cough,Frequent (79-30%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0025142,Constitutional symptom,Frequent (79-30%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0031041,Obstruction of the superior vena cava,Occasional (29-5%),TAS,,,,[PMID:29179896],y,y +GARD:0007026,Orphanet,50251,ORPHA:50251,17,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,[PMID:29179896],y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0000907,Anterior rib cupping,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0001248,Short tubular bones of the hand,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0002515,Waddling gait,Very frequent (99-80%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0002812,Coxa vara,Very frequent (99-80%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0002979,Bowing of the legs,Occasional (29-5%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0002980,Femoral bowing,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0003015,Flared metaphysis,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0003021,Metaphyseal cupping,Very frequent (99-80%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0003025,Metaphyseal irregularity,Very frequent (99-80%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0003301,Irregular vertebral endplates,Occasional (29-5%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0003411,Proximal femoral metaphyseal irregularity,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0004019,Radial metaphyseal irregularity,Occasional (29-5%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0004042,Ulnar metaphyseal irregularity,Occasional (29-5%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0005028,Widened proximal tibial metaphyses,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0005923,Abnormal hand metaphysis morphology,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0006028,Metaphyseal cupping of metacarpals,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0006208,Metaphyseal cupping of proximal phalanges,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0006431,Proximal femoral metaphyseal abnormality,Very frequent (99-80%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0006634,Osteosclerosis of ribs,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0008873,Disproportionate short-limb short stature,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0009826,Limb undergrowth,Very frequent (99-80%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0009852,Broad proximal phalanges of the hand,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0025369,Thick growth plates,Very frequent (99-80%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0030299,Distal femoral metaphyseal abnormality,Very frequent (99-80%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007029,Orphanet,174,ORPHA:174,33,HP:0045079,Distal femoral metaphyseal irregularity,Frequent (79-30%),TAS,,,,"[PMID:15578582, PMID:31633898]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0000016,Urinary retention,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0000896,Rib exostoses,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0000918,Scapular exostoses,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0001191,Abnormal carpal morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0001850,Abnormality of the tarsal bones,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0002107,Pneumothorax,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0002144,Tethered cord,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0002176,Spinal cord compression,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0002318,Cervical myelopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0002673,Coxa valga,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0002763,Abnormal cartilage morphology,Frequent (79-30%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0002815,Abnormality of the knee,Frequent (79-30%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0002823,Abnormality of femur morphology,Frequent (79-30%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0002991,Abnormality of fibula morphology,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0002992,Abnormality of tibia morphology,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0003016,Metaphyseal widening,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0003026,Short long bone,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0003330,Abnormal bone structure,Frequent (79-30%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0003396,Syringomyelia,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0003406,Peripheral nerve compression,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0003959,Deformed forearm bones,Frequent (79-30%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0003977,Deformed radius,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0004684,Talipes valgus,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0005214,Intestinal obstruction,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0005922,Abnormal hand morphology,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0006385,Short lower limbs,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0006765,Chondrosarcoma,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0008443,Spinal deformities,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0008800,Limited hip movement,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0009821,Forearm undergrowth,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0009826,Limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0010049,Short metacarpal,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0010501,Limitation of knee mobility,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0012151,Hemothorax,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0020110,Bone fracture,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0025232,Bursitis,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0030431,Osteochondroma,Obligate (100%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0030883,Femoroacetabular impingement,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0031625,Pseudoaneurysm,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0032510,Tendon pain,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0040069,Abnormal lower limb bone morphology,Frequent (79-30%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0040071,Abnormal morphology of ulna,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0040163,Abnormal pelvis bone morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0100555,Asymmetric growth,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007035,Orphanet,321,ORPHA:321,56,HP:0100749,Chest pain,Very rare (<4-1%),TAS,,,,"[PMID:20301413, PMID:32253147]",y,y +GARD:0007039,Orphanet,2290,ORPHA:2290,11,HP:0000121,Nephrocalcinosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007039,Orphanet,2290,ORPHA:2290,11,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007039,Orphanet,2290,ORPHA:2290,11,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0007039,Orphanet,2290,ORPHA:2290,11,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007039,Orphanet,2290,ORPHA:2290,11,HP:0001944,Dehydration,Frequent (79-30%),TAS,,,,,y,y +GARD:0007039,Orphanet,2290,ORPHA:2290,11,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0007039,Orphanet,2290,ORPHA:2290,11,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,,y,y +GARD:0007039,Orphanet,2290,ORPHA:2290,11,HP:0011106,Hypovolemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007039,Orphanet,2290,ORPHA:2290,11,HP:0011472,Abnormality of small intestinal villus morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007039,Orphanet,2290,ORPHA:2290,11,HP:0011473,Villous atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007039,Orphanet,2290,ORPHA:2290,11,HP:0012211,Abnormal renal physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0000217,Xerostomia,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0000282,Facial edema,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0000315,Abnormality of the orbital region,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0000587,Abnormality of the optic nerve,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0000629,Periorbital fullness,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0001097,Keratoconjunctivitis sicca,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0001873,Thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0001970,Tubulointerstitial nephritis,Very rare (<4-1%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0002716,Lymphadenopathy,Very rare (<4-1%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0003261,Increased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0003324,Generalized muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0003496,Increased circulating IgM level,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0005200,Retroperitoneal fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0005994,Nodular goiter,Very rare (<4-1%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0007734,Enlarged lacrimal glands,Very frequent (99-80%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0007807,Optic nerve compression,Very rare (<4-1%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0008049,Abnormality of the extraocular muscles,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0010286,Abnormal salivary gland morphology,Very frequent (99-80%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0010287,Abnormality of the submandibular glands,Very frequent (99-80%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0011481,Abnormal lacrimal duct morphology,Very rare (<4-1%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0011801,Enlargement of parotid gland,Frequent (79-30%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0032230,Cytoplasmic antineutrophil antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0032300,Increased circulating IgG4 level,Very frequent (99-80%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0100540,Palpebral edema,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0100614,Myositis,Occasional (29-5%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007043,Orphanet,79078,ORPHA:79078,33,HP:0100646,Thyroiditis,Very rare (<4-1%),TAS,,,,"[PMID:23242814, PMID:26016066, PMID:29675343, PMID:31598602, PMID:32921832, PMID:33598067]",y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0000217,Xerostomia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0000709,Psychosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0001097,Keratoconjunctivitis sicca,Frequent (79-30%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0001878,Hemolytic anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0002102,Pleuritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0002206,Pulmonary fibrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0003010,Prolonged bleeding time,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0005263,Gastritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0100324,Scleroderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0100614,Myositis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0100721,Mediastinal lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007051,Orphanet,809,ORPHA:809,41,HP:0100749,Chest pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0000077,Abnormality of the kidney,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0000177,Abnormality of upper lip,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0000366,Abnormality of the nose,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0000490,Deeply set eye,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0000520,Proptosis,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0000872,Hashimoto thyroiditis,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0001045,Vitiligo,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0001626,Abnormality of the cardiovascular system,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0002086,Abnormality of the respiratory system,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0002232,Patchy alopecia,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0002384,Focal impaired awareness seizure,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0002633,Vasculitis,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0003202,Skeletal muscle atrophy,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0003330,Abnormal bone structure,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0004426,Abnormality of the cheek,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0006336,Short dental root,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0008066,Abnormal blistering of the skin,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0009019,Progressive loss of facial adipose tissue,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0011138,Abnormality of skin adnexa morphology,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0011331,Hemifacial atrophy,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0011355,Localized skin lesion,Frequent (79-30%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0011821,Abnormal facial skeleton morphology,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0025474,Erythematous plaque,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0030053,Stiff skin,Frequent (79-30%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0030878,Abnormality on pulmonary function testing,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0030880,Raynaud phenomenon,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0031359,Cutaneous sclerotic plaque,Frequent (79-30%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0100537,Fasciitis,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0100560,Upper limb asymmetry,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0100633,Esophagitis,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0100876,Infra-orbital crease,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0100899,Sclerosis of finger phalanx,Occasional (29-5%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007058,Orphanet,90289,ORPHA:90289,54,HP:0200041,Skin erosion,Very rare (<4-1%),TAS,,,,"[PMID:25672301, PMID:28271552, PMID:29687475, PMID:29875934]",y,y +GARD:0007064,Orphanet,2573,ORPHA:2573,5,HP:0001009,Telangiectasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007064,Orphanet,2573,ORPHA:2573,5,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0007064,Orphanet,2573,ORPHA:2573,5,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007064,Orphanet,2573,ORPHA:2573,5,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007064,Orphanet,2573,ORPHA:2573,5,HP:0100659,Abnormal cerebral vascular morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0000640,Gaze-evoked nystagmus,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0002310,Orofacial dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0002322,Resting tremor,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0002494,Abnormal rapid eye movement sleep,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0002530,Axial dystonia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0004926,Orthostatic hypotension due to autonomic dysfunction,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0005341,Autonomic bladder dysfunction,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0008652,Autonomic erectile dysfunction,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0010307,Stridor,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0010536,Central sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0012658,Abnormal brain FDG positron emission tomography,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0012670,Orthostatic syncope,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0030015,Female anorgasmia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0030880,Raynaud phenomenon,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007079,Orphanet,102,ORPHA:102,27,HP:0100595,Camptocormia,Frequent (79-30%),TAS,,,,"[PMID:14219099, PMID:14446364, PMID:14747001, PMID:18725592, PMID:23758206]",y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0000246,Sinusitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0000389,Chronic otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0000885,Broad ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0002656,Epiphyseal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0002788,Recurrent upper respiratory tract infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0003300,Ovoid vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0003521,Disproportionate short-trunk short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0007759,Opacification of the corneal stroma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0008155,Mucopolysacchariduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0009928,Thick nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007095,Orphanet,583,ORPHA:583,26,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0000023,Inguinal hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0001541,Ascites,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0001789,Hydrops fetalis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0001840,Metatarsus adductus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0002103,Abnormal pleura morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0004607,Anterior beaking of lower thoracic vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0005019,Diaphyseal thickening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0008155,Mucopolysacchariduria,Frequent (79-30%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0008430,Anterior beaking of lumbar vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0010655,Epiphyseal stippling,Frequent (79-30%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0012115,Hepatitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0100026,Arteriovenous malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007096,Orphanet,584,ORPHA:584,26,HP:0100625,Enlarged thorax,Occasional (29-5%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0001034,Hypermelanotic macule,Occasional (29-5%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0002516,Increased intracranial pressure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0004440,Coronal craniosynostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0005599,Hypopigmentation of hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0008368,Tarsal synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0009702,Carpal synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007097,Orphanet,53271,ORPHA:53271,21,HP:0010579,Cone-shaped epiphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007103,Orphanet,139436,ORPHA:139436,6,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0007103,Orphanet,139436,ORPHA:139436,6,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007103,Orphanet,139436,ORPHA:139436,6,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0007103,Orphanet,139436,ORPHA:139436,6,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007103,Orphanet,139436,ORPHA:139436,6,HP:0100727,Histiocytosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007103,Orphanet,139436,ORPHA:139436,6,HP:0200036,Skin nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0000014,Abnormality of the bladder,Occasional (29-5%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0000100,Nephrotic syndrome,Frequent (79-30%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0001744,Splenomegaly,Very rare (<4-1%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0001919,Acute kidney injury,Frequent (79-30%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0002152,Hyperproteinemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0002176,Spinal cord compression,Occasional (29-5%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0002202,Pleural effusion,Very rare (<4-1%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0002716,Lymphadenopathy,Very rare (<4-1%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0002756,Pathologic fracture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0002953,Vertebral compression fracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0003237,Increased circulating IgG level,Frequent (79-30%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0003259,Elevated circulating creatinine concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0003261,Increased circulating IgA level,Occasional (29-5%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0004341,Abnormality of vitamin B12 metabolism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0007108,Orphanet,29073,ORPHA:29073,26,HP:0012719,Functional abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000046,Small scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000157,Abnormality of the tongue,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000276,Long face,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000364,Hearing abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000465,Webbed neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000492,Abnormal eyelid morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000766,Abnormal sternum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0000902,Rib fusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0001040,Multiple pterygia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0001059,Pterygium,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0001060,Axillary pterygium,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0001646,Abnormal aortic valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0002804,Arthrogryposis multiplex congenita,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0003764,Nevus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0008065,Aplasia/Hypoplasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0008729,Absence of labia majora,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0009756,Popliteal pterygium,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0009760,Antecubital pterygium,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0009773,Symphalangism affecting the phalanges of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0011842,Abnormal skeletal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0012718,Morphological abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0007111,Orphanet,2990,ORPHA:2990,65,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0000597,Ophthalmoparesis,Frequent (79-30%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0000709,Psychosis,Very rare (<4-1%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0000777,Abnormality of the thymus,Frequent (79-30%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0000836,Hyperthyroidism,Occasional (29-5%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0000872,Hashimoto thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0001063,Acrocyanosis,Very rare (<4-1%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0001283,Bulbar palsy,Frequent (79-30%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0001370,Rheumatoid arthritis,Occasional (29-5%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0001878,Hemolytic anemia,Very rare (<4-1%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0003076,Glycosuria,Occasional (29-5%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0008207,Primary adrenal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0010780,Hyperacusis,Occasional (29-5%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0012115,Hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0012410,Pure red cell aplasia,Very rare (<4-1%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0030006,Single fiber EMG abnormality,Frequent (79-30%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0030208,Anti-acetylcholine receptor antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0030210,Muscle specific kinase antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0030880,Raynaud phenomenon,Occasional (29-5%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007122,Orphanet,589,ORPHA:589,29,HP:0100614,Myositis,Frequent (79-30%),TAS,,,,"[PMID:14257395, PMID:1603341, PMID:26502757, PMID:5329432]",y,y +GARD:0007139,Orphanet,36899,ORPHA:36899,11,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,"[PMID:17853490, PMID:20301587]",y,y +GARD:0007139,Orphanet,36899,ORPHA:36899,11,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:17853490, PMID:20301587]",y,y +GARD:0007139,Orphanet,36899,ORPHA:36899,11,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:17853490, PMID:20301587]",y,y +GARD:0007139,Orphanet,36899,ORPHA:36899,11,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:17853490, PMID:20301587]",y,y +GARD:0007139,Orphanet,36899,ORPHA:36899,11,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:17853490, PMID:20301587]",y,y +GARD:0007139,Orphanet,36899,ORPHA:36899,11,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,"[PMID:17853490, PMID:20301587]",y,y +GARD:0007139,Orphanet,36899,ORPHA:36899,11,HP:0002356,Writer's cramp,Frequent (79-30%),TAS,,,,"[PMID:17853490, PMID:20301587]",y,y +GARD:0007139,Orphanet,36899,ORPHA:36899,11,HP:0010531,Spinal myoclonus,Very frequent (99-80%),TAS,,,,"[PMID:17853490, PMID:20301587]",y,y +GARD:0007139,Orphanet,36899,ORPHA:36899,11,HP:0012075,Personality disorder,Frequent (79-30%),TAS,,,,"[PMID:17853490, PMID:20301587]",y,y +GARD:0007139,Orphanet,36899,ORPHA:36899,11,HP:0025269,Panic attack,Frequent (79-30%),TAS,,,,"[PMID:17853490, PMID:20301587]",y,y +GARD:0007139,Orphanet,36899,ORPHA:36899,11,HP:0045084,Limb myoclonus,Very frequent (99-80%),TAS,,,,"[PMID:17853490, PMID:20301587]",y,y +GARD:0007144,Orphanet,551,ORPHA:551,11,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007144,Orphanet,551,ORPHA:551,11,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007144,Orphanet,551,ORPHA:551,11,HP:0001012,Multiple lipomas,Frequent (79-30%),TAS,,,,,y,y +GARD:0007144,Orphanet,551,ORPHA:551,11,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007144,Orphanet,551,ORPHA:551,11,HP:0002123,Generalized myoclonic seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007144,Orphanet,551,ORPHA:551,11,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007144,Orphanet,551,ORPHA:551,11,HP:0003200,Ragged-red muscle fibers,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007144,Orphanet,551,ORPHA:551,11,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007144,Orphanet,551,ORPHA:551,11,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0007144,Orphanet,551,ORPHA:551,11,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007144,Orphanet,551,ORPHA:551,11,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007157,Orphanet,99967,ORPHA:99967,3,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007157,Orphanet,99967,ORPHA:99967,3,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0007157,Orphanet,99967,ORPHA:99967,3,HP:0002579,Gastrointestinal dysmotility,Occasional (29-5%),TAS,,,,,y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0000708,Behavioral abnormality,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0000725,Psychotic episodes,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0000733,Motor stereotypy,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0001271,Polyneuropathy,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0001298,Encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0001987,Hyperammonemia,Very frequent (99-80%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0002014,Diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0002098,Respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0002240,Hepatomegaly,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0002329,Drowsiness,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0002637,Cerebral ischemia,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0002863,Myelodysplasia,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0003217,Hyperglutaminemia,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0003348,Hyperalaninemia,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0006582,Reye syndrome-like episodes,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0008281,Acute hyperammonemia,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0010529,Echolalia,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0010550,Paraplegia,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0031258,Delirium,Very rare (<4-1%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007158,Orphanet,927,ORPHA:927,42,HP:0100785,Insomnia,Occasional (29-5%),TAS,,,,"[PMID:27147233, PMID:27570737, PMID:29364180, PMID:30337552]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0000123,Nephritis,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0001377,Limited elbow extension,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0001771,Achilles tendon contracture,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0001772,Talipes equinovalgus,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0001884,Talipes calcaneovalgus,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0002597,Abnormality of the vasculature,Very rare (<4-1%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0002815,Abnormality of the knee,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0002823,Abnormality of femur morphology,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0002967,Cubitus valgus,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0002992,Abnormality of tibia morphology,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0003045,Abnormal patella morphology,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0003065,Patellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0003083,Dislocated radial head,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0003199,Decreased muscle mass,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0003302,Spondylolisthesis,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0003304,Spondylolysis,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0003418,Back pain,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0004722,Thickened glomerular basement membrane,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0005190,Proximal finger joint hyperextensibility,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0005290,Internal carotid artery hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0006297,Enamel hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0006394,Limited pronation/supination of forearm,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0006443,Patellar aplasia,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0006702,Coronary artery dissection,Very rare (<4-1%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0007906,Ocular hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0008007,Primary congenital glaucoma,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0008034,Abnormal iris pigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0008110,Equinovarus deformity,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0008124,Talipes calcaneovarus,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0009697,Contracture of the distal interphalangeal joint of the fingers,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0009760,Antecubital pterygium,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0009780,Iliac horns,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0009781,Lester's sign,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0009890,High anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0010886,Osteochondritis dissecans,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0011297,Abnormal digit morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0012108,Open angle glaucoma,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0012718,Morphological abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0030839,Knee pain,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0031006,Acroparesthesia,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0031910,Abnormal cranial nerve physiology,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0045086,Knee joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0100797,Toenail dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007160,Orphanet,2614,ORPHA:2614,72,HP:0100798,Fingernail dysplasia,Frequent (79-30%),TAS,,,,"[PMID:20301311, PMID:32644616]",y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000482,Microcornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,,y,y +GARD:0007161,Orphanet,627,ORPHA:627,19,HP:0011069,Supernumerary tooth,Frequent (79-30%),TAS,,,,,y,y +GARD:0007162,Orphanet,2073,ORPHA:2073,11,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0007162,Orphanet,2073,ORPHA:2073,11,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0007162,Orphanet,2073,ORPHA:2073,11,HP:0000738,Hallucinations,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007162,Orphanet,2073,ORPHA:2073,11,HP:0001262,Excessive daytime somnolence,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007162,Orphanet,2073,ORPHA:2073,11,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,,y,y +GARD:0007162,Orphanet,2073,ORPHA:2073,11,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,,y,y +GARD:0007162,Orphanet,2073,ORPHA:2073,11,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,,y,y +GARD:0007162,Orphanet,2073,ORPHA:2073,11,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007162,Orphanet,2073,ORPHA:2073,11,HP:0002494,Abnormal rapid eye movement sleep,Frequent (79-30%),TAS,,,,,y,y +GARD:0007162,Orphanet,2073,ORPHA:2073,11,HP:0002524,Cataplexy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007162,Orphanet,2073,ORPHA:2073,11,HP:0010534,Transient global amnesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000044,Hypogonadotropic hypogonadism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000464,Abnormality of the neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0002664,Neoplasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0002937,Hemivertebrae,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0002948,Vertebral fusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0004408,Abnormality of the sense of smell,Occasional (29-5%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0008422,Vertebral wedging,Frequent (79-30%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0010610,Palmar pits,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007166,Orphanet,377,ORPHA:377,29,HP:0010612,Plantar pits,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0000830,Anterior hypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0000870,Increased circulating prolactin concentration,Very rare (<4-1%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0000873,Diabetes insipidus,Very rare (<4-1%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0001065,Striae distensae,Frequent (79-30%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0002170,Intracranial hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0002900,Hypokalemia,Frequent (79-30%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0003118,Increased circulating cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0005978,Type II diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0007440,Generalized hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0007807,Optic nerve compression,Occasional (29-5%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0007924,Slow decrease in visual acuity,Frequent (79-30%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0008291,Pituitary corticotropic cell adenoma,Very frequent (99-80%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0009050,Quadriceps muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0010788,Testicular neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0011744,Secondary hypercortisolism,Obligate (100%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0011749,Adrenocorticotropic hormone excess,Obligate (100%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0011763,Pituitary carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0012030,Increased urinary cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0012246,Oculomotor nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0030521,Bitemporal hemianopia,Frequent (79-30%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0030591,Abnormal kinetic perimetry test,Frequent (79-30%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0200026,Ocular pain,Very rare (<4-1%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007170,Orphanet,199244,ORPHA:199244,27,HP:0430022,Abnormality of the sphenoid sinus,Very rare (<4-1%),TAS,,,,"[PMID:12466338, PMID:1322426, PMID:17062771, PMID:17263968, PMID:18413427, PMID:21131539, PMID:21289243, PMID:23539733, PMID:2841851, PMID:2981103, PMID:2986564, PMID:6323516, PMID:7072659, PMID:8077377, PMID:8393886, PMID:9231094]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0000275,Narrow face,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0000467,Neck muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0000508,Ptosis,Very rare (<4-1%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0001533,Slender build,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0001561,Polyhydramnios,Very rare (<4-1%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0001623,Breech presentation,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0001989,Fetal akinesia sequence,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0002068,Neuromuscular dysphagia,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0002483,Bulbar signs,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0002747,Respiratory insufficiency due to muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0002792,Reduced vital capacity,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0002804,Arthrogryposis multiplex congenita,Very rare (<4-1%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0003306,Spinal rigidity,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0003458,EMG: myopathic abnormalities,Very frequent (99-80%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0003690,Limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0003691,Scapular winging,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0003798,Nemaline bodies,Very frequent (99-80%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0003803,Type 1 muscle fiber predominance,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0007010,Poor fine motor coordination,Excluded (0%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0008180,Mildly elevated creatine kinase,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0009055,Generalized limb muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0009058,Increased muscle lipid content,Frequent (79-30%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007171,Orphanet,171439,ORPHA:171439,46,HP:0030192,Fatigable weakness of bulbar muscles,Occasional (29-5%),TAS,,,,"[PMID:11333380, PMID:11731279, PMID:17846275, PMID:21104864, PMID:22431881, PMID:24268659, PMID:25205138]",y,y +GARD:0007172,Orphanet,446,ORPHA:446,11,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007172,Orphanet,446,ORPHA:446,11,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007172,Orphanet,446,ORPHA:446,11,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007172,Orphanet,446,ORPHA:446,11,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007172,Orphanet,446,ORPHA:446,11,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007172,Orphanet,446,ORPHA:446,11,HP:0002612,Congenital hepatic fibrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007172,Orphanet,446,ORPHA:446,11,HP:0003281,Increased circulating ferritin concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007172,Orphanet,446,ORPHA:446,11,HP:0003452,Increased serum iron,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007172,Orphanet,446,ORPHA:446,11,HP:0006579,Prolonged neonatal jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007172,Orphanet,446,ORPHA:446,11,HP:0006709,Aplasia/Hypoplasia of the nipples,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007172,Orphanet,446,ORPHA:446,11,HP:0100542,Abnormal localization of kidney,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0000009,Functional abnormality of the bladder,Occasional (29-5%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0000072,Hydroureter,Occasional (29-5%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0001263,Global developmental delay,Very rare (<4-1%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0001561,Polyhydramnios,Very rare (<4-1%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0001959,Polydipsia,Frequent (79-30%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0003158,Hyposthenuria,Very frequent (99-80%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0003228,Hypernatremia,Very frequent (99-80%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0004906,Hypernatremic dehydration,Very frequent (99-80%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0009806,Nephrogenic diabetes insipidus,Obligate (100%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0010677,Enuresis nocturna,Very rare (<4-1%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0011106,Hypovolemia,Occasional (29-5%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007178,Orphanet,223,ORPHA:223,21,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:10770218, PMID:11232028, PMID:11853799, PMID:12050236, PMID:12241956, PMID:1356229, PMID:14397883, PMID:16461963, PMID:25211589, PMID:7537863, PMID:8479490, PMID:8479491, PMID:9649557, PMID:9822112, PMID:9831428]",y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0000653,Sparse eyelashes,Occasional (29-5%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0000956,Acanthosis nigricans,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0000964,Eczema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0001019,Erythroderma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0002097,Emphysema,Frequent (79-30%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0002099,Asthma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0003212,Increased circulating IgE level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0003355,Aminoaciduria,Occasional (29-5%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0007479,Congenital nonbullous ichthyosiform erythroderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0009886,Trichorrhexis nodosa,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0007182,Orphanet,634,ORPHA:634,31,HP:0100326,Immunologic hypersensitivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0000023,Inguinal hernia,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0000943,Dysostosis multiplex,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0001103,Abnormal macular morphology,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0001541,Ascites,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0001789,Hydrops fetalis,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0005561,Abnormality of bone marrow cell morphology,Occasional (29-5%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0010741,Pedal edema,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007183,Orphanet,87876,ORPHA:87876,31,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,[PMID:23870618],y,y +GARD:0007185,Orphanet,635,ORPHA:635,2,HP:0004375,Neoplasm of the nervous system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007185,Orphanet,635,ORPHA:635,2,HP:0011976,Elevated urinary catecholamines,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0005603,Numerous congenital melanocytic nevi,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007186,Orphanet,2481,ORPHA:2481,27,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0000256,Macrocephaly,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0000403,Recurrent otitis media,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0000995,Melanocytic nevus,Excluded (0%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0001067,Neurofibromas,Obligate (100%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0001291,Abnormal cranial nerve morphology,Occasional (29-5%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0002584,Intestinal bleeding,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0002751,Kyphoscoliosis,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0003406,Peripheral nerve compression,Occasional (29-5%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0003416,Spinal canal stenosis,Occasional (29-5%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0005220,Multiple intestinal neurofibromatosis,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0006751,Paraspinal neurofibromas,Occasional (29-5%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0006851,Symmetric spinal nerve root neurofibromas,Occasional (29-5%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0007470,Periarticular subcutaneous nodules,Frequent (79-30%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0007524,Atypical neurofibromatosis,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0007576,Palmar neurofibromas,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0009593,Peripheral Schwannoma,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0009732,Plexiform neurofibroma,Frequent (79-30%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0009735,Spinal neurofibromas,Occasional (29-5%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0010609,Skin tags,Excluded (0%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0011801,Enlargement of parotid gland,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0012289,Facial neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0012440,Abnormal biliary tract morphology,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0012645,Enlarged peripheral nerve,Frequent (79-30%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0100010,Spinal meningioma,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0100013,Neoplasm of the breast,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0100527,Neoplasia of the pleura,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0100551,Neoplasm of the trachea,Very rare (<4-1%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007191,Orphanet,252183,ORPHA:252183,28,HP:0100698,Subcutaneous neurofibromas,Frequent (79-30%),TAS,,,,"[PMID:15177315, PMID:17695403, PMID:20154031, PMID:20194331, PMID:21741514, PMID:22654333, PMID:23336913, PMID:25128077, PMID:26237456, PMID:28647116, PMID:28666606]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0000587,Abnormality of the optic nerve,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0001271,Polyneuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0002196,Myelopathy,Frequent (79-30%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0002317,Unsteady gait,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0002381,Aphasia,Very rare (<4-1%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0002512,Brain stem compression,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0002858,Meningioma,Frequent (79-30%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0002888,Ependymoma,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0007787,Posterior subcapsular cataract,Frequent (79-30%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0007968,Remnants of the hyaloid vascular system,Very rare (<4-1%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0009027,Foot dorsiflexor weakness,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0009589,Bilateral vestibular schwannoma,Frequent (79-30%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0009592,Astrocytoma,Very rare (<4-1%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0009593,Peripheral Schwannoma,Frequent (79-30%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0009594,Retinal hamartoma,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0009733,Glioma,Very rare (<4-1%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0009831,Mononeuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0010302,Spinal cord tumor,Frequent (79-30%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0030430,Neuroma,Very frequent (99-80%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0031189,Wrist drop,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0100009,Intracranial meningioma,Frequent (79-30%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0100010,Spinal meningioma,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0100014,Epiretinal membrane,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0100019,Cortical cataract,Occasional (29-5%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007193,Orphanet,637,ORPHA:637,47,HP:0100963,Hyperesthesia,Frequent (79-30%),TAS,,,,"[PMID:20301380, PMID:26073919, PMID:28720529]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0001662,Bradycardia,Very rare (<4-1%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0001873,Thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0001894,Thrombocytosis,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002045,Hypothermia,Very rare (<4-1%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002149,Hyperuricemia,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002153,Hyperkalemia,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002300,Mutism,Very frequent (99-80%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002905,Hyperphosphatemia,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002913,Myoglobinuria,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0002917,Hypomagnesemia,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0003155,Elevated circulating alkaline phosphatase concentration,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0003201,Rhabdomyolysis,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0003228,Hypernatremia,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0003781,Excessive salivation,Frequent (79-30%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0004372,Reduced consciousness/confusion,Very frequent (99-80%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0007076,Extrapyramidal muscular rigidity,Very frequent (99-80%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0010553,Oculogyric crisis,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0012332,Abnormal autonomic nervous system physiology,Very frequent (99-80%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0025145,Rigors,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0025435,Increased circulating lactate dehydrogenase concentration,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0031258,Delirium,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0100735,Hypertensive crisis,Occasional (29-5%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007195,Orphanet,94093,ORPHA:94093,54,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:28144147, PMID:29464217, PMID:30765906]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0000246,Sinusitis,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0000389,Chronic otitis media,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0000976,Eczematoid dermatitis,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0002718,Recurrent bacterial infections,Frequent (79-30%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0002726,Recurrent Staphylococcus aureus infections,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0003472,Hypocalcemic tetany,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0004798,Recurrent infection of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0004844,Coombs-positive hemolytic anemia,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0005352,Severe T-cell immunodeficiency,Very frequent (99-80%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0005359,Aplasia of the thymus,Obligate (100%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0005366,Recurrent streptococcus pneumoniae infections,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0005374,Cellular immunodeficiency,Very frequent (99-80%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0005387,Combined immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0005401,Recurrent candida infections,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0005403,T lymphocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0009098,Chronic oral candidiasis,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0020101,Invasive fungal infection,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0031381,Decreased lymphocyte proliferation in response to mitogen,Very frequent (99-80%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0031397,Decreased proportion of naive T cells,Very frequent (99-80%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0031430,Oligoclonal T cell expansion,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0031690,Opportunistic infection,Frequent (79-30%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0031691,Severe viral infection,Frequent (79-30%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0032169,Severe infection,Frequent (79-30%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0100646,Thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007201,Orphanet,83471,ORPHA:83471,36,HP:0200122,Atypical or prolonged hepatitis,Occasional (29-5%),TAS,,,,"[PMID:29763203, PMID:32922396, PMID:33987750]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0000511,Vertical supranuclear gaze palsy,Very frequent (99-80%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0000734,Disinhibition,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0000744,Low frustration tolerance,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001392,Abnormality of the liver,Very frequent (99-80%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001541,Ascites,Very rare (<4-1%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001789,Hydrops fetalis,Very rare (<4-1%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0001791,Fetal ascites,Very rare (<4-1%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002080,Intention tremor,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002088,Abnormal lung morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002093,Respiratory insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002113,Pulmonary infiltrates,Very rare (<4-1%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002133,Status epilepticus,Very rare (<4-1%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002344,Progressive neurologic deterioration,Very frequent (99-80%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002367,Visual hallucinations,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002415,Leukodystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002493,Upper motor neuron dysfunction,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002524,Cataplexy,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002530,Axial dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0002878,Respiratory failure,Very rare (<4-1%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0003349,Low cholesterol esterification rate,Very frequent (99-80%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0003651,Foam cells,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0004333,Bone-marrow foam cells,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0006855,Cerebellar vermis atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0006913,Frontal cortical atrophy,Very rare (<4-1%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0007108,Demyelinating peripheral neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0007302,Bipolar affective disorder,Very rare (<4-1%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0008765,Auditory hallucinations,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0011400,Abnormal CNS myelination,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0011446,Abnormality of higher mental function,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0011951,Aspiration pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0012433,Abnormal social behavior,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0030050,Narcolepsy,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007207,Orphanet,646,ORPHA:646,81,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,"[PMID:20301473, PMID:20525256, PMID:30205942, PMID:30285904]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0000491,Keratitis,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0000575,Scotoma,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0000620,Dacryocystitis,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0000834,Abnormality of the adrenal glands,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0001287,Meningitis,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0001654,Abnormal heart valve morphology,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002097,Emphysema,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002102,Pleuritis,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002107,Pneumothorax,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002383,Infectious encephalitis,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002586,Peritonitis,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002840,Lymphadenitis,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0004302,Functional motor deficit,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0011450,Unusual CNS infection,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0012424,Chorioretinitis,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0030049,Brain abscess,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0030166,Night sweats,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0031245,Productive cough,Frequent (79-30%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0031246,Nonproductive cough,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0031292,Cutaneous abscess,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0031864,Bacteremia,Frequent (79-30%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0032016,Abnormal sputum,Frequent (79-30%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0032169,Severe infection,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0045026,Abnormality of the mediastinum,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0100523,Liver abscess,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0100532,Scleritis,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0100584,Endocarditis,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0100646,Thyroiditis,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0100658,Cellulitis,Very rare (<4-1%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007210,Orphanet,31204,ORPHA:31204,52,HP:0200026,Ocular pain,Occasional (29-5%),TAS,,,,"[PMID:22469352, PMID:28626172, PMID:29146497, PMID:31363440]",y,y +GARD:0007219,Orphanet,407,ORPHA:407,13,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:23005907],y,y +GARD:0007219,Orphanet,407,ORPHA:407,13,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,[PMID:23005907],y,y +GARD:0007219,Orphanet,407,ORPHA:407,13,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,[PMID:23005907],y,y +GARD:0007219,Orphanet,407,ORPHA:407,13,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,[PMID:23005907],y,y +GARD:0007219,Orphanet,407,ORPHA:407,13,HP:0002079,Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,[PMID:23005907],y,y +GARD:0007219,Orphanet,407,ORPHA:407,13,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,[PMID:23005907],y,y +GARD:0007219,Orphanet,407,ORPHA:407,13,HP:0002154,Hyperglycinemia,Very frequent (99-80%),TAS,,,,[PMID:23005907],y,y +GARD:0007219,Orphanet,407,ORPHA:407,13,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,[PMID:23005907],y,y +GARD:0007219,Orphanet,407,ORPHA:407,13,HP:0005957,Breathing dysregulation,Frequent (79-30%),TAS,,,,[PMID:23005907],y,y +GARD:0007219,Orphanet,407,ORPHA:407,13,HP:0005972,Respiratory acidosis,Frequent (79-30%),TAS,,,,[PMID:23005907],y,y +GARD:0007219,Orphanet,407,ORPHA:407,13,HP:0010851,EEG with burst suppression,Very frequent (99-80%),TAS,,,,[PMID:23005907],y,y +GARD:0007219,Orphanet,407,ORPHA:407,13,HP:0012705,Abnormal metabolic brain imaging by MRS,Very frequent (99-80%),TAS,,,,[PMID:23005907],y,y +GARD:0007219,Orphanet,407,ORPHA:407,13,HP:0100247,Recurrent singultus,Very frequent (99-80%),TAS,,,,[PMID:23005907],y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0000034,Hydrocele testis,Frequent (79-30%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0001055,Erysipelas,Very rare (<4-1%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0001785,Ankle swelling,Frequent (79-30%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0002619,Varicose veins,Frequent (79-30%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0002624,Abnormal venous morphology,Frequent (79-30%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0003550,Predominantly lower limb lymphedema,Frequent (79-30%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0100658,Cellulitis,Frequent (79-30%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0100725,Lichenification,Occasional (29-5%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0100797,Toenail dysplasia,Frequent (79-30%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007220,Orphanet,79452,ORPHA:79452,18,HP:0200058,Angiosarcoma,Occasional (29-5%),TAS,,,,"[PMID:17458866, PMID:23074044, PMID:27730656, PMID:28748022, PMID:30941160]",y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000375,Abnormal cochlea morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000446,Narrow nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000532,Abnormal chorioretinal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000615,Abnormal pupil morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000647,Sclerocornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000709,Psychosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0001083,Ectopia lentis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0004327,Abnormal vitreous humor morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0005293,Venous insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0006887,"Intellectual disability, progressive",Frequent (79-30%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0007676,Hypoplasia of the iris,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0007833,Anterior chamber synechiae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0007968,Remnants of the hyaloid vascular system,Frequent (79-30%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0008046,Abnormal retinal vascular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0008063,Aplasia/Hypoplasia of the lens,Frequent (79-30%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0010662,Abnormality of the diencephalon,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0010978,Abnormality of immune system physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0011039,Abnormal helix morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0100012,Neoplasm of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0100639,Erectile dysfunction,Frequent (79-30%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0100718,Uterine rupture,Occasional (29-5%),TAS,,,,,y,y +GARD:0007224,Orphanet,649,ORPHA:649,64,HP:0100742,Vascular neoplasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007226,Orphanet,510,ORPHA:510,11,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0007226,Orphanet,510,ORPHA:510,11,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007226,Orphanet,510,ORPHA:510,11,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0007226,Orphanet,510,ORPHA:510,11,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0007226,Orphanet,510,ORPHA:510,11,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007226,Orphanet,510,ORPHA:510,11,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007226,Orphanet,510,ORPHA:510,11,HP:0001997,Gout,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007226,Orphanet,510,ORPHA:510,11,HP:0002149,Hyperuricemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007226,Orphanet,510,ORPHA:510,11,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0007226,Orphanet,510,ORPHA:510,11,HP:0004374,Hemiplegia/hemiparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007226,Orphanet,510,ORPHA:510,11,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000011,Neurogenic bladder,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000161,Median cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000187,Broad alveolar ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000366,Abnormality of the nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000446,Narrow nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000482,Microcornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000525,Abnormality iris morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000598,Abnormality of the ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000679,Taurodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000889,Abnormal clavicle morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000940,Abnormal diaphysis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000944,Abnormality of the metaphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0000982,Palmoplantar keratoderma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0002212,Curly hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0002213,Fine hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0002217,Slow-growing hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0002299,Brittle hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0002313,Spastic paraparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0003067,Madelung deformity,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0003103,Abnormal cortical bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0004437,Cranial hyperostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0004495,Thin anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0006323,Premature loss of primary teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0008499,High hypermetropia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0008572,External ear malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0009843,Aplasia/Hypoplasia of the middle phalanges of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0010109,Short hallux,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0010761,Broad columella,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0011342,Mild global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0100335,Non-midline cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0007239,Orphanet,2710,ORPHA:2710,84,HP:0100774,Hyperostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007245,Orphanet,270,ORPHA:270,10,HP:0000298,Mask-like facies,Occasional (29-5%),TAS,,,,,y,y +GARD:0007245,Orphanet,270,ORPHA:270,10,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007245,Orphanet,270,ORPHA:270,10,HP:0000600,Abnormality of the pharynx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007245,Orphanet,270,ORPHA:270,10,HP:0000602,Ophthalmoplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007245,Orphanet,270,ORPHA:270,10,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007245,Orphanet,270,ORPHA:270,10,HP:0003200,Ragged-red muscle fibers,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007245,Orphanet,270,ORPHA:270,10,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007245,Orphanet,270,ORPHA:270,10,HP:0003302,Spondylolisthesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007245,Orphanet,270,ORPHA:270,10,HP:0003805,Rimmed vacuoles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007245,Orphanet,270,ORPHA:270,10,HP:0004303,Abnormal muscle fiber morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0001028,Hemangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0001928,Abnormality of coagulation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0002763,Abnormal cartilage morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0005701,Multiple enchondromatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0006765,Chondrosarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0100242,Sarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0100761,Visceral angiomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0100764,Lymphangioma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007251,Orphanet,296,ORPHA:296,20,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0007264,Orphanet,357154,ORPHA:357154,7,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007264,Orphanet,357154,ORPHA:357154,7,HP:0000163,Abnormal oral cavity morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007264,Orphanet,357154,ORPHA:357154,7,HP:0000211,Trismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007264,Orphanet,357154,ORPHA:357154,7,HP:0000600,Abnormality of the pharynx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007264,Orphanet,357154,ORPHA:357154,7,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0007264,Orphanet,357154,ORPHA:357154,7,HP:0012182,Oropharyngeal squamous cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007264,Orphanet,357154,ORPHA:357154,7,HP:0100825,Cheilitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007269,Orphanet,147,ORPHA:147,7,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007269,Orphanet,147,ORPHA:147,7,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007269,Orphanet,147,ORPHA:147,7,HP:0001951,Episodic ammonia intoxication,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007269,Orphanet,147,ORPHA:147,7,HP:0001987,Hyperammonemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007269,Orphanet,147,ORPHA:147,7,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007269,Orphanet,147,ORPHA:147,7,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007269,Orphanet,147,ORPHA:147,7,HP:0005961,Hypoargininemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007284,Orphanet,668,ORPHA:668,12,HP:0000944,Abnormality of the metaphysis,Frequent (79-30%),TAS,,,,[PMID:21317869],y,y +GARD:0007284,Orphanet,668,ORPHA:668,12,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,[PMID:21317869],y,y +GARD:0007284,Orphanet,668,ORPHA:668,12,HP:0001824,Weight loss,Very rare (<4-1%),TAS,,,,[PMID:21317869],y,y +GARD:0007284,Orphanet,668,ORPHA:668,12,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,[PMID:21317869],y,y +GARD:0007284,Orphanet,668,ORPHA:668,12,HP:0002756,Pathologic fracture,Very rare (<4-1%),TAS,,,,[PMID:21317869],y,y +GARD:0007284,Orphanet,668,ORPHA:668,12,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,[PMID:21317869],y,y +GARD:0007284,Orphanet,668,ORPHA:668,12,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,[PMID:21317869],y,y +GARD:0007284,Orphanet,668,ORPHA:668,12,HP:0006489,Abnormality of the femoral metaphysis,Very frequent (99-80%),TAS,,,,[PMID:21317869],y,y +GARD:0007284,Orphanet,668,ORPHA:668,12,HP:0006491,Abnormality of the tibial metaphysis,Frequent (79-30%),TAS,,,,[PMID:21317869],y,y +GARD:0007284,Orphanet,668,ORPHA:668,12,HP:0012531,Pain,Frequent (79-30%),TAS,,,,[PMID:21317869],y,y +GARD:0007284,Orphanet,668,ORPHA:668,12,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,[PMID:21317869],y,y +GARD:0007284,Orphanet,668,ORPHA:668,12,HP:0045040,Abnormal lactate dehydrogenase level,Frequent (79-30%),TAS,,,,[PMID:21317869],y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0000845,Elevated circulating growth hormone concentration,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0000969,Edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0000976,Eczematoid dermatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0000982,Palmoplantar keratoderma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0001051,Seborrheic dermatitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0001061,Acne,Frequent (79-30%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0002754,Osteomyelitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0002797,Osteolysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0002970,Genu varum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0004398,Peptic ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0005561,Abnormality of bone marrow cell morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0010541,Cutis gyrata of scalp,Frequent (79-30%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0010720,Abnormal hair pattern,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0011362,Abnormal hair quantity,Frequent (79-30%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0100021,Cerebral palsy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0100526,Neoplasm of the lung,Occasional (29-5%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0100760,Clubbing of toes,Frequent (79-30%),TAS,,,,,y,y +GARD:0007299,Orphanet,2796,ORPHA:2796,41,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000046,Small scrotum,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000062,Ambiguous genitalia,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000110,Renal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000171,Microglossia,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000191,Accessory oral frenulum,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000243,Trigonocephaly,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000273,Facial grimacing,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000308,Microretrognathia,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000413,Atresia of the external auditory canal,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000695,Natal tooth,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000749,Paroxysmal bursts of laughter,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000835,Adrenal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000871,Panhypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0000902,Rib fusion,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001273,Abnormal corpus callosum morphology,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001520,Large for gestational age,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001562,Oligohydramnios,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001837,Broad toe,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0001883,Talipes,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0002093,Respiratory insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0002139,Arrhinencephaly,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0002164,Nail dysplasia,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0002444,Hypothalamic hamartoma,Obligate (100%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0002937,Hemivertebrae,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0002986,Radial bowing,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0003048,Radial head subluxation,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0005684,Distal arthrogryposis,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0005917,Supernumerary metacarpal bones,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0005990,Thyroid hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0006136,Bilateral postaxial polydactyly,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0006695,Atrioventricular canal defect,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0007601,Midline facial capillary hemangioma,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0008207,Primary adrenal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0008213,Gonadotropin deficiency,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0008240,Secondary growth hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0008684,Aplasia/hypoplasia of the uterus,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0008751,Laryngeal cleft,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0009958,Polydactyly affecting the 3rd finger,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0009971,Polydactyly affecting the 4th finger,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0010044,Short 4th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0010564,Bifid epiglottis,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0010821,Focal emotional seizure with laughing,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0010958,Bilateral renal agenesis,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0011026,Aplasia/Hypoplasia of the vagina,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0011734,Central adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0011748,Adrenocorticotropic hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0011939,3-4 finger cutaneous syndactyly,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0012165,Oligodactyly,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0012751,Abnormal basal ganglia MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0030010,Hydrometrocolpos,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0030021,Auricular tag,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0030431,Osteochondroma,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0030799,Scaphocephaly,Very rare (<4-1%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0040075,Hypopituitarism,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0040086,Abnormal prolactin level,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0100260,Mesoaxial polydactyly,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0200117,Recurrent upper and lower respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007305,Orphanet,672,ORPHA:672,100,HP:0410030,Cleft lip,Occasional (29-5%),TAS,,,,"[PMID:11241471, PMID:14708104, PMID:18057317, PMID:21108399, PMID:24736735, PMID:2596511, PMID:26604140, PMID:7211952, PMID:8182722, PMID:8591673, PMID:8914745, PMID:9192261]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0000751,Personality changes,Frequent (79-30%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0000756,Agoraphobia,Occasional (29-5%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0000805,Enuresis,Occasional (29-5%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0002183,Phonophobia,Occasional (29-5%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0005366,Recurrent streptococcus pneumoniae infections,Occasional (29-5%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0008770,Obsessive-compulsive trait,Frequent (79-30%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0010865,Oppositional defiant disorder,Frequent (79-30%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0025253,Claustrophobia,Occasional (29-5%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0031468,Separation insecurity,Occasional (29-5%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0040183,Encopresis,Occasional (29-5%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0100033,Tics,Very frequent (99-80%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0100710,Impulsivity,Frequent (79-30%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0100754,Mania,Excluded (0%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007312,Orphanet,66624,ORPHA:66624,24,HP:0100852,Abnormal fear/anxiety-related behavior,Frequent (79-30%),TAS,,,,"[PMID:26196024, PMID:26196028, PMID:9464208]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0002486,Myotonia,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0003458,EMG: myopathic abnormalities,Occasional (29-5%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0004875,Neonatal inspiratory stridor,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0008153,Periodic hypokalemic paresis,Occasional (29-5%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0010548,Percussion myotonia,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0011042,Abnormal blood potassium concentration,Occasional (29-5%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0011809,Paradoxical myotonia,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0012892,Facial muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0012899,Handgrip myotonia,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0012900,Myotonia of the face,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0012901,Myotonia of the jaw,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0012903,Myotonia of the upper limb,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0012904,Cold-sensitive myotonia,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007325,Orphanet,684,ORPHA:684,19,HP:0031372,Cold paresis,Frequent (79-30%),TAS,,,,"[PMID:10727489, PMID:18337100, PMID:19015483, PMID:21220685, PMID:8424309]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0000121,Nephrocalcinosis,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0000131,Uterine leiomyoma,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0000787,Nephrolithiasis,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0000934,Chondrocalcinosis,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0001959,Polydipsia,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0002148,Hypophosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0002150,Hypercalciuria,Very frequent (99-80%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0002574,Episodic abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0002667,Nephroblastoma,Very rare (<4-1%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0002890,Thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0003072,Hypercalcemia,Obligate (100%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0003165,Elevated circulating parathyroid hormone level,Very frequent (99-80%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0004398,Peptic ulcer,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0006725,Pancreatic adenocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0006780,Parathyroid carcinoma,Obligate (100%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0008200,Primary hyperparathyroidism,Obligate (100%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0008250,Infantile hypercalcemia,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0008696,Renal hamartoma,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0010614,Fibroma,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0010788,Testicular neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0011766,Abnormality of the parathyroid morphology,Very frequent (99-80%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0012032,Lipoma,Very rare (<4-1%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0012232,Shortened QT interval,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007329,Orphanet,143,ORPHA:143,37,HP:0200025,Mandibular pain,Occasional (29-5%),TAS,,,,"[PMID:14585940, PMID:15606373, PMID:23293331, PMID:26163537, http://www.ncbi.nlm.nih.gov/books/NBK3789]",y,y +GARD:0007335,Orphanet,90035,ORPHA:90035,11,HP:0001890,Autoimmune hemolytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007335,Orphanet,90035,ORPHA:90035,11,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007335,Orphanet,90035,ORPHA:90035,11,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007335,Orphanet,90035,ORPHA:90035,11,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0007335,Orphanet,90035,ORPHA:90035,11,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007335,Orphanet,90035,ORPHA:90035,11,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007335,Orphanet,90035,ORPHA:90035,11,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007335,Orphanet,90035,ORPHA:90035,11,HP:0003418,Back pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007335,Orphanet,90035,ORPHA:90035,11,HP:0003641,Hemoglobinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007335,Orphanet,90035,ORPHA:90035,11,HP:0004844,Coombs-positive hemolytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007335,Orphanet,90035,ORPHA:90035,11,HP:0012086,Abnormal urinary color,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0000802,Impotence,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0001878,Hemolytic anemia,Very frequent (99-80%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0001907,Thromboembolism,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0001923,Reticulocytosis,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0001994,Renal Fanconi syndrome,Very rare (<4-1%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0002625,Deep venous thrombosis,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0002639,Budd-Chiari syndrome,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0003076,Glycosuria,Very rare (<4-1%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0003138,Increased blood urea nitrogen,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0003641,Hemoglobinuria,Very frequent (99-80%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0004420,Arterial thrombosis,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0004936,Venous thrombosis,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0008282,Unconjugated hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0012132,Erythroid hyperplasia,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0012543,Hemosiderinuria,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0020181,Reduced haptoglobin level,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0025271,Esophageal spasms,Very rare (<4-1%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0025406,Asthenia,Very frequent (99-80%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0030248,Mesenteric venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0030272,Abnormal erythrocyte enzyme level,Obligate (100%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0032043,Odynophagia,Occasional (29-5%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0032106,Conjunctival icterus,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0040303,Decreased serum iron,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007337,Orphanet,447,ORPHA:447,43,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:27913482, PMID:29246924, PMID:29486674]",y,y +GARD:0007338,Orphanet,1214,ORPHA:1214,11,HP:0000277,Abnormal mandible morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007338,Orphanet,1214,ORPHA:1214,11,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007338,Orphanet,1214,ORPHA:1214,11,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007338,Orphanet,1214,ORPHA:1214,11,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0007338,Orphanet,1214,ORPHA:1214,11,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007338,Orphanet,1214,ORPHA:1214,11,HP:0001100,Heterochromia iridis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007338,Orphanet,1214,ORPHA:1214,11,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007338,Orphanet,1214,ORPHA:1214,11,HP:0003011,Abnormality of the musculature,Frequent (79-30%),TAS,,,,,y,y +GARD:0007338,Orphanet,1214,ORPHA:1214,11,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007338,Orphanet,1214,ORPHA:1214,11,HP:0008065,Aplasia/Hypoplasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0007338,Orphanet,1214,ORPHA:1214,11,HP:0100555,Asymmetric growth,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000008,Abnormal morphology of female internal genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000069,Abnormality of the ureter,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000161,Median cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000235,Abnormality of the fontanelles or cranial sutures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000370,Abnormality of the middle ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000476,Cystic hygroma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000499,Abnormal eyelash morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000528,Anophthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0001362,Calvarial skull defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0001631,Atrial septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0001643,Patent ductus arteriosus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0001789,Hydrops fetalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0002101,Abnormal lung lobation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0002308,Chiari malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0004467,Preauricular pit,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0005306,Capillary hemangioma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0005562,Multiple renal cysts,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0008046,Abnormal retinal vascular morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0008053,Aplasia/Hypoplasia of the iris,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0009738,Abnormal antihelix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0011039,Abnormal helix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0100257,Ectrodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0100627,Displacement of the urethral meatus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007341,Orphanet,3378,ORPHA:3378,59,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000107,Renal cyst,Very rare (<4-1%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000829,Hypoparathyroidism,Very rare (<4-1%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000846,Adrenal insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000953,Hyperpigmentation of the skin,Very rare (<4-1%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000957,Cafe-au-lait spot,Very rare (<4-1%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0000992,Cutaneous photosensitivity,Very rare (<4-1%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001738,Exocrine pancreatic insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001875,Neutropenia,Very frequent (99-80%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001923,Reticulocytosis,Very frequent (99-80%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0002148,Hypophosphatemia,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0002490,Increased CSF lactate,Frequent (79-30%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0002570,Steatorrhea,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0002900,Hypokalemia,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0002917,Hypomagnesemia,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0003076,Glycosuria,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0003128,Lactic acidosis,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0003348,Hyperalaninemia,Very frequent (99-80%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0003648,Lacticaciduria,Very frequent (99-80%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0005528,Bone marrow hypocellularity,Very frequent (99-80%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0005561,Abnormality of bone marrow cell morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0006270,Hypoplastic spleen,Very rare (<4-1%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0006577,Macronodular cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0008501,Median cleft lip and palate,Very rare (<4-1%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0012040,Corneal stromal edema,Frequent (79-30%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0031546,Cardiac conduction abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0032066,Decreased serum bicarbonate concentration,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0032169,Severe infection,Very frequent (99-80%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0032653,Elevated lactate:pyruvate ratio,Very frequent (99-80%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0100732,Pancreatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007343,Orphanet,699,ORPHA:699,70,HP:0200118,Malabsorption of Vitamin B12,Occasional (29-5%),TAS,,,,"[PMID:20301382, PMID:29337599]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0000155,Oral ulcer,Occasional (29-5%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0001019,Erythroderma,Occasional (29-5%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0001965,Abnormal scalp morphology,Frequent (79-30%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0003765,Psoriasiform dermatitis,Very rare (<4-1%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0004377,Hematological neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0007473,Crusting erythematous dermatitis,Frequent (79-30%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0008069,Neoplasm of the skin,Very rare (<4-1%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0011830,Abnormal oral mucosa morphology,Occasional (29-5%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0025474,Erythematous plaque,Frequent (79-30%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0025527,Serpiginous cutaneous lesion,Very rare (<4-1%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0025528,Annular cutaneous lesion,Very rare (<4-1%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0040189,Scaling skin,Frequent (79-30%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0100792,Acantholysis,Very frequent (99-80%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0200037,Skin vesicle,Occasional (29-5%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0200039,Pustule,Very rare (<4-1%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007354,Orphanet,79481,ORPHA:79481,20,HP:0200041,Skin erosion,Frequent (79-30%),TAS,,,,"[PMID:29267466, PMID:29479654, PMID:30762246, PMID:31378971]",y,y +GARD:0007355,Orphanet,704,ORPHA:704,10,HP:0000163,Abnormal oral cavity morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007355,Orphanet,704,ORPHA:704,10,HP:0000987,Atypical scarring of skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007355,Orphanet,704,ORPHA:704,10,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007355,Orphanet,704,ORPHA:704,10,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007355,Orphanet,704,ORPHA:704,10,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007355,Orphanet,704,ORPHA:704,10,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007355,Orphanet,704,ORPHA:704,10,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007355,Orphanet,704,ORPHA:704,10,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007355,Orphanet,704,ORPHA:704,10,HP:0100792,Acantholysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007355,Orphanet,704,ORPHA:704,10,HP:0100838,Recurrent cutaneous abscess formation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0000766,Abnormal sternum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0000776,Congenital diaphragmatic hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0001171,Split hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0001539,Omphalocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0001697,Abnormal pericardium morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0001748,Polysplenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0002323,Anencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0002992,Abnormality of tibia morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0006501,Aplasia/Hypoplasia of the radius,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0011467,Absent gallbladder,Occasional (29-5%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007359,Orphanet,1335,ORPHA:1335,25,HP:0100335,Non-midline cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0000478,Abnormality of the eye,Very rare (<4-1%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0001638,Cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0002011,Morphological central nervous system abnormality,Occasional (29-5%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0002088,Abnormal lung morphology,Occasional (29-5%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0002102,Pleuritis,Very rare (<4-1%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0003390,Sensory axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0011121,Abnormality of skin morphology,Very frequent (99-80%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0030880,Raynaud phenomenon,Occasional (29-5%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0031003,Polyneuritis,Frequent (79-30%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007360,Orphanet,767,ORPHA:767,26,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:29955757, PMID:30114520, PMID:30418125, PMID:30952413]",y,y +GARD:0007377,Orphanet,708,ORPHA:708,9,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:12566051, PMID:14711722, PMID:21448066, PMID:380351, PMID:474688]",y,y +GARD:0007377,Orphanet,708,ORPHA:708,9,HP:0000523,Subcapsular cataract,Very frequent (99-80%),TAS,,,,"[PMID:12566051, PMID:14711722, PMID:21448066, PMID:380351, PMID:474688]",y,y +GARD:0007377,Orphanet,708,ORPHA:708,9,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:12566051, PMID:14711722, PMID:21448066, PMID:380351, PMID:474688]",y,y +GARD:0007377,Orphanet,708,ORPHA:708,9,HP:0000659,Peters anomaly,Obligate (100%),TAS,,,,"[PMID:12566051, PMID:14711722, PMID:21448066, PMID:380351, PMID:474688]",y,y +GARD:0007377,Orphanet,708,ORPHA:708,9,HP:0001087,Developmental glaucoma,Frequent (79-30%),TAS,,,,"[PMID:12566051, PMID:14711722, PMID:21448066, PMID:380351, PMID:474688]",y,y +GARD:0007377,Orphanet,708,ORPHA:708,9,HP:0007759,Opacification of the corneal stroma,Very frequent (99-80%),TAS,,,,"[PMID:12566051, PMID:14711722, PMID:21448066, PMID:380351, PMID:474688]",y,y +GARD:0007377,Orphanet,708,ORPHA:708,9,HP:0011483,Anterior synechiae of the anterior chamber,Very frequent (99-80%),TAS,,,,"[PMID:12566051, PMID:14711722, PMID:21448066, PMID:380351, PMID:474688]",y,y +GARD:0007377,Orphanet,708,ORPHA:708,9,HP:0011493,Central opacification of the cornea,Very frequent (99-80%),TAS,,,,"[PMID:12566051, PMID:14711722, PMID:21448066, PMID:380351, PMID:474688]",y,y +GARD:0007377,Orphanet,708,ORPHA:708,9,HP:0031159,Thinning of Descemet membrane,Very frequent (99-80%),TAS,,,,"[PMID:12566051, PMID:14711722, PMID:21448066, PMID:380351, PMID:474688]",y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0000069,Abnormality of the ureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0000366,Abnormality of the nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0001003,Multiple lentigines,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0002035,Rectal prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0002239,Gastrointestinal hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0002672,Gastrointestinal carcinoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0003002,Breast carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0005244,Gastrointestinal infarctions,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0005264,Abnormality of the gallbladder,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0005584,Renal cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0006725,Pancreatic adenocarcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0008675,Enlarged polycystic ovaries,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0011024,Abnormality of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0012126,Stomach cancer,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0012720,Neoplasm of the nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0030079,Cervix cancer,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0100273,Neoplasm of the colon,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0100526,Neoplasm of the lung,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0100574,Biliary tract neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0100582,Nasal polyposis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0100644,Melanonychia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0100669,Abnormal pigmentation of the oral mucosa,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0100743,Neoplasm of the rectum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0100751,Esophageal neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007378,Orphanet,2869,ORPHA:2869,33,HP:0100833,Neoplasm of the small intestine,Occasional (29-5%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0000262,Turricephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0005048,Synostosis of carpal bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0009773,Symphalangism affecting the phalanges of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007380,Orphanet,710,ORPHA:710,22,HP:0012368,Flat face,Occasional (29-5%),TAS,,,,,y,y +GARD:0007381,Orphanet,526,ORPHA:526,9,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0007381,Orphanet,526,ORPHA:526,9,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007381,Orphanet,526,ORPHA:526,9,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007381,Orphanet,526,ORPHA:526,9,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0007381,Orphanet,526,ORPHA:526,9,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007381,Orphanet,526,ORPHA:526,9,HP:0002637,Cerebral ischemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007381,Orphanet,526,ORPHA:526,9,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007381,Orphanet,526,ORPHA:526,9,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007381,Orphanet,526,ORPHA:526,9,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0007383,Orphanet,716,ORPHA:716,3,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007383,Orphanet,716,ORPHA:716,3,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,,y,y +GARD:0007383,Orphanet,716,ORPHA:716,3,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0000096,Glomerular sclerosis,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0000740,Episodic paroxysmal anxiety,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0001069,Episodic hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0001095,Hypertensive retinopathy,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0001293,Cranial nerve compression,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0001342,Cerebral hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0001605,Vocal cord paralysis,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0002331,Recurrent paroxysmal headache,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0002640,Hypertension associated with pheochromocytoma,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0002668,Paraganglioma,Very frequent (99-80%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0002864,Paraganglioma of head and neck,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0003072,Hypercalcemia,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0003345,Elevated urinary norepinephrine,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0003574,Positive regitine blocking test,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0003639,Elevated urinary epinephrine,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0006737,Extraadrenal pheochromocytoma,Very frequent (99-80%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0006748,Adrenal pheochromocytoma,Very frequent (99-80%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0008629,Pulsatile tinnitus,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0010532,Paroxysmal vertigo,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0011703,Sinus tachycardia,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0011979,Elevated urinary dopamine,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0025269,Panic attack,Occasional (29-5%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0031284,Flushing,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007385,Orphanet,276621,ORPHA:276621,36,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:11502790, PMID:12000821, PMID:12574179, PMID:17102067, PMID:17200167, PMID:17940110, PMID:19628817, PMID:20260947, PMID:20503330, PMID:22948026, PMID:24893135, PMID:4340974, PMID:5015920, PMID:9509062]",y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000040,Long penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000113,Polycystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000204,Cleft upper lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000387,Absent earlobe,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0001239,Wrist flexion contracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0002817,Abnormality of the upper limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0002984,Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0005011,Mesomelic arm shortening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0005048,Synostosis of carpal bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0005876,Progressive flexion contractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0006443,Patellar aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0007452,Midface capillary hemangioma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0008572,External ear malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0008665,Clitoral hypertrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0008846,Severe intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0009466,Radial deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0009601,Aplasia/Hypoplasia of the thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0009623,Proximal placement of thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0009829,Phocomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0009891,Underdeveloped supraorbital ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0009943,Complete duplication of thumb phalanx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007387,Orphanet,3103,ORPHA:3103,54,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0000556,Retinal dystrophy,Very rare (<4-1%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0001878,Hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0001923,Reticulocytosis,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0002904,Hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0002913,Myoglobinuria,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0003201,Rhabdomyolysis,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0003738,Exercise-induced myalgia,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0009020,Exercise-induced muscle fatigue,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0012638,Abnormal nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007389,Orphanet,713,ORPHA:713,21,HP:0020062,Decreased hemoglobin concentration,Frequent (79-30%),TAS,,,,"[PMID:16567715, PMID:16740138, PMID:19157875, PMID:4230542, PMID:5764452]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0000474,Thickened nuchal skin fold,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0000710,Hyperorality,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0000711,Restlessness,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0000718,Aggressive behavior,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0000719,Inappropriate behavior,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0000723,Restrictive behavior,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0000733,Motor stereotypy,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0000734,Disinhibition,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0000737,Irritability,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0000751,Personality changes,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0000757,Lack of insight,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0002145,Frontotemporal dementia,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0002371,Loss of speech,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0002442,Dyscalculia,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0002446,Astrocytosis,Occasional (29-5%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0002465,Poor speech,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0002493,Upper motor neuron dysfunction,Occasional (29-5%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0006892,Frontotemporal cerebral atrophy,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0010522,Dyslexia,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0010526,Dysgraphia,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0010529,Echolalia,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0011204,EEG with continuous slow activity,Frequent (79-30%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0012658,Abnormal brain FDG positron emission tomography,Frequent (79-30%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0012671,Abulia,Occasional (29-5%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0030212,Collectionism,Frequent (79-30%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0030213,Emotional blunting,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007392,Orphanet,275864,ORPHA:275864,40,HP:0030223,Perseveration,Very frequent (99-80%),TAS,,,,"[PMID:18090417, PMID:20971753, PMID:9791535]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0000372,Abnormality of the auditory canal,Occasional (29-5%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0000934,Chondrocalcinosis,Very rare (<4-1%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0001003,Multiple lentigines,Occasional (29-5%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0001384,Abnormal hip joint morphology,Occasional (29-5%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0002797,Osteolysis,Frequent (79-30%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0002815,Abnormality of the knee,Frequent (79-30%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0003019,Abnormality of the wrist,Occasional (29-5%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0003028,Abnormality of the ankles,Occasional (29-5%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0003043,Abnormal shoulder morphology,Occasional (29-5%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0005186,Synovial hypertrophy,Very rare (<4-1%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0005195,Polyarticular arthropathy,Very rare (<4-1%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0009811,Abnormality of the elbow,Occasional (29-5%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0009911,Abnormal temporal bone morphology,Occasional (29-5%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0031520,Groin pain,Occasional (29-5%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0040090,Abnormality of the tympanic membrane,Occasional (29-5%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007396,Orphanet,66627,ORPHA:66627,22,HP:0040161,Localized osteoporosis,Very rare (<4-1%),TAS,,,,"[PMID:24701714, PMID:30594158, PMID:30745604, PMID:31242479]",y,y +GARD:0007401,Orphanet,2897,ORPHA:2897,14,HP:0000163,Abnormal oral cavity morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007401,Orphanet,2897,ORPHA:2897,14,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,,y,y +GARD:0007401,Orphanet,2897,ORPHA:2897,14,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007401,Orphanet,2897,ORPHA:2897,14,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007401,Orphanet,2897,ORPHA:2897,14,HP:0001019,Erythroderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007401,Orphanet,2897,ORPHA:2897,14,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0007401,Orphanet,2897,ORPHA:2897,14,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0007401,Orphanet,2897,ORPHA:2897,14,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007401,Orphanet,2897,ORPHA:2897,14,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007401,Orphanet,2897,ORPHA:2897,14,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007401,Orphanet,2897,ORPHA:2897,14,HP:0008392,Subungual hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007401,Orphanet,2897,ORPHA:2897,14,HP:0100725,Lichenification,Occasional (29-5%),TAS,,,,,y,y +GARD:0007401,Orphanet,2897,ORPHA:2897,14,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007401,Orphanet,2897,ORPHA:2897,14,HP:0200039,Pustule,Occasional (29-5%),TAS,,,,,y,y +GARD:0007403,Orphanet,99928,ORPHA:99928,4,HP:0000141,Amenorrhea,Very frequent (99-80%),TAS,,,,[PMID:14614893],y,y +GARD:0007403,Orphanet,99928,ORPHA:99928,4,HP:0005268,Miscarriage,Very frequent (99-80%),TAS,,,,[PMID:14614893],y,y +GARD:0007403,Orphanet,99928,ORPHA:99928,4,HP:0011434,Low maternal serum chorionic gonadotropin,Very frequent (99-80%),TAS,,,,[PMID:14614893],y,y +GARD:0007403,Orphanet,99928,ORPHA:99928,4,HP:0100608,Metrorrhagia,Very frequent (99-80%),TAS,,,,[PMID:14614893],y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0000818,Abnormality of the endocrine system,Very frequent (99-80%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0000821,Hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0000870,Increased circulating prolactin concentration,Occasional (29-5%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0000998,Hypertrichosis,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0001028,Hemangioma,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0001063,Acrocyanosis,Occasional (29-5%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0001085,Papilledema,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0001271,Polyneuropathy,Obligate (100%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0001698,Pericardial effusion,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0001820,Leukonychia,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0001894,Thrombocytosis,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0001901,Polycythemia,Occasional (29-5%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0002092,Pulmonary arterial hypertension,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0002202,Pleural effusion,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0002694,Sclerosis of skull base,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0002747,Respiratory insufficiency due to muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0003271,Visceromegaly,Very frequent (99-80%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0004054,Sclerosis of hand bone,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0004420,Arterial thrombosis,Occasional (29-5%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0004576,Sclerotic vertebral endplates,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0004979,Metaphyseal sclerosis,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0005523,Lymphoproliferative disorder,Very frequent (99-80%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0008207,Primary adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0009125,Lipodystrophy,Occasional (29-5%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0010702,Increased circulating antibody level,Very frequent (99-80%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0011122,Abnormality of skin physiology,Very frequent (99-80%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0100639,Erectile dysfunction,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0100759,Clubbing of fingers,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0100925,Sclerosis of foot bone,Frequent (79-30%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007411,Orphanet,2905,ORPHA:2905,46,HP:0100963,Hyperesthesia,Occasional (29-5%),TAS,,,,"[PMID:24532337, PMID:28589896, PMID:7985714]",y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000070,Ureterocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000081,Duplicated collecting system,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000089,Renal hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000356,Abnormality of the outer ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000766,Abnormal sternum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000773,Short ribs,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000912,Sprengel anomaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0000921,Missing ribs,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0001171,Split hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0001555,Asymmetry of the thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0001651,Dextrocardia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0002488,Acute leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0002814,Abnormality of the lower limb,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0002937,Hemivertebrae,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0002997,Abnormality of the ulna,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0003063,Abnormality of the humerus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0004050,Absent hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0006008,Unilateral brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0006501,Aplasia/Hypoplasia of the radius,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0006709,Aplasia/Hypoplasia of the nipples,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0006714,Aplasia/Hypoplasia of the sternum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0007477,Abnormal dermatoglyphics,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0007485,Absence of subcutaneous fat,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0009594,Retinal hamartoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0009601,Aplasia/Hypoplasia of the thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0009700,Finger symphalangism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0009751,Aplasia of the pectoralis major muscle,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0010311,Aplasia/Hypoplasia of the breasts,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0010579,Cone-shaped epiphysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0100013,Neoplasm of the breast,Occasional (29-5%),TAS,,,,,y,y +GARD:0007412,Orphanet,2911,ORPHA:2911,55,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0000713,Agitation,Very rare (<4-1%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0000737,Irritability,Very rare (<4-1%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0000822,Hypertension,Very rare (<4-1%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0001283,Bulbar palsy,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0001287,Meningitis,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0001289,Confusion,Very rare (<4-1%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002374,Diminished movement,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002383,Infectious encephalitis,Very rare (<4-1%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002385,Paraparesis,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002483,Bulbar signs,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002487,Hyperkinetic movements,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002590,Paralytic ileus,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002615,Hypotension,Very rare (<4-1%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0003470,Paralysis,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0003484,Upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0009004,Hypoplasia of the musculature,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0010547,Muscle flaccidity,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0011805,Abnormal skeletal muscle morphology,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0012486,Myelitis,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0012531,Pain,Very frequent (99-80%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0025258,Stiff neck,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0025439,Pharyngitis,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0030196,Fatigable weakness of respiratory muscles,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0030813,Absent tonsils,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0031058,Impairment of activities of daily living,Occasional (29-5%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0031274,Hypovolemic shock,Very rare (<4-1%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0031469,Low self esteem,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007413,Orphanet,2912,ORPHA:2912,53,HP:0040131,Abnormal motor nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:31690950, PMID:8944203]",y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0000491,Keratitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0001545,Anteriorly placed anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0001646,Abnormal aortic valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0001701,Pericarditis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0002617,Vascular dilatation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0002793,Abnormal pattern of respiration,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0004306,Abnormal endocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0004418,Thrombophlebitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0004422,Biparietal narrowing,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0005310,Large vessel vasculitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0011107,Recurrent aphthous stomatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0012733,Macule,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0100532,Scleritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0100533,Inflammatory abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0100534,Episcleritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0100662,Chondritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0100750,Atelectasis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0100820,Glomerulopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007417,Orphanet,728,ORPHA:728,41,HP:0200047,Chondritis of pinna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0000225,Gingival bleeding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0000360,Tinnitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0000421,Epistaxis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0001681,Angina pectoris,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0002321,Vertigo,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0002488,Acute leukemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0002639,Budd-Chiari syndrome,Occasional (29-5%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0002863,Myelodysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0004417,Intermittent claudication,Occasional (29-5%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0004420,Arterial thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0011974,Myelofibrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0007422,Orphanet,729,ORPHA:729,28,HP:0030242,Portal vein thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0000091,Abnormal renal tubule morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0000934,Chondrocalcinosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0003002,Breast carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0003701,Proximal muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0004303,Abnormal muscle fiber morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0005150,Abnormal atrioventricular conduction,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0006530,Abnormal pulmonary interstitial morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0012544,Elevated aldolase level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007425,Orphanet,732,ORPHA:732,41,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007430,Orphanet,2940,ORPHA:2940,8,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0007430,Orphanet,2940,ORPHA:2940,8,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007430,Orphanet,2940,ORPHA:2940,8,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007430,Orphanet,2940,ORPHA:2940,8,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007430,Orphanet,2940,ORPHA:2940,8,HP:0002132,Porencephalic cyst,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007430,Orphanet,2940,ORPHA:2940,8,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007430,Orphanet,2940,ORPHA:2940,8,HP:0100021,Cerebral palsy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007430,Orphanet,2940,ORPHA:2940,8,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0000559,Corneal scarring,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0000656,Ectropion,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0000998,Hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0001030,Fragile skin,Very frequent (99-80%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0001058,Poor wound healing,Frequent (79-30%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0001402,Hepatocellular carcinoma,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0001405,Periportal fibrosis,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0003281,Increased circulating ferritin concentration,Frequent (79-30%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0003452,Increased serum iron,Frequent (79-30%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0004377,Hematological neoplasm,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0005406,Recurrent bacterial skin infections,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0006562,Viral hepatitis,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0010472,Abnormal circulating porphyrin concentration,Very frequent (99-80%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0010473,Porphyrinuria,Very frequent (99-80%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0012217,Increased urinary porphobilinogen,Frequent (79-30%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0012379,Abnormal enzyme/coenzyme activity,Frequent (79-30%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0012465,Elevated hepatic iron concentration,Frequent (79-30%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0030272,Abnormal erythrocyte enzyme level,Frequent (79-30%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0030955,Alcoholism,Frequent (79-30%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0031292,Cutaneous abscess,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0031876,Decreased hepcidin level,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0032500,Exacerbated by tobacco use,Very frequent (99-80%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0032999,Increased fecal porphyrin,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0033196,Portal inflammation,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0033197,Hepatic lobular inflammation,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0100699,Scarring,Occasional (29-5%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007433,Orphanet,101330,ORPHA:101330,39,HP:0200123,Chronic hepatitis,Frequent (79-30%),TAS,,,,"[PMID:18720935, PMID:30683557]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0000010,Recurrent urinary tract infections,Very frequent (99-80%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0000016,Urinary retention,Very rare (<4-1%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0000278,Retrognathia,Very rare (<4-1%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0000316,Hypertelorism,Very rare (<4-1%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0001254,Lethargy,Very rare (<4-1%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0001562,Oligohydramnios,Very rare (<4-1%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0005105,Abnormal nasal morphology,Very rare (<4-1%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0008661,Urethral stenosis,Very rare (<4-1%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0008718,Unilateral renal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0008897,Postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0010677,Enuresis nocturna,Occasional (29-5%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0010945,Fetal pyelectasis,Occasional (29-5%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0010957,Congenital posterior urethral valve,Very frequent (99-80%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0012330,Pyelonephritis,Occasional (29-5%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0012622,Chronic kidney disease,Very frequent (99-80%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007439,Orphanet,93110,ORPHA:93110,22,HP:0100518,Dysuria,Very rare (<4-1%),TAS,,,,"[PMID:28247065, PMID:28612060, PMID:30796705, PMID:30948260]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0000820,Abnormality of the thyroid gland,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0001278,Orthostatic hypotension,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0001394,Cirrhosis,Very frequent (99-80%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0001395,Hepatic fibrosis,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0001399,Hepatic failure,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0001402,Hepatocellular carcinoma,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0001409,Portal hypertension,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0002608,Celiac disease,Occasional (29-5%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0002613,Biliary cirrhosis,Very frequent (99-80%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0002841,Recurrent fungal infections,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0002908,Conjugated hyperbilirubinemia,Very frequent (99-80%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0003119,Abnormal circulating lipid concentration,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0003261,Increased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0003493,Antinuclear antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0003496,Increased circulating IgM level,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0004386,Gastrointestinal inflammation,Very rare (<4-1%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0011040,Abnormality of the intrahepatic bile duct,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0011971,Dermatographic urticaria,Very frequent (99-80%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0012203,Onychomycosis,Frequent (79-30%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007459,Orphanet,186,ORPHA:186,32,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:26261733, PMID:27465943]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000050,Hypoplastic male external genitalia,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000134,Female hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000200,Short lingual frenulum,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000331,Short chin,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000418,Narrow nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000436,Abnormality of the nasal tip,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000444,Convex nasal ridge,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000586,Shallow orbits,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000765,Abnormal thorax morphology,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000855,Insulin resistance,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000894,Short clavicles,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000905,Progressive clavicular acroosteolysis,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001034,Hypermelanotic macule,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001525,Severe failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001544,Prominent umbilicus,Very frequent (99-80%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001620,High pitched voice,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001633,Abnormal mitral valve morphology,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001646,Abnormal aortic valve morphology,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001681,Angina pectoris,Very rare (<4-1%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001714,Ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001718,Mitral stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001757,High-frequency sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001810,Dystrophic toenail,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0002092,Pulmonary arterial hypertension,Very rare (<4-1%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0002223,Absent eyebrow,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0002232,Patchy alopecia,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0002362,Shuffling gait,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0002621,Atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0002673,Coxa valga,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0002781,Upper airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0003292,Decreased serum leptin,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0004334,Dermal atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0004380,Aortic valve calcification,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0004382,Mitral valve calcification,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0004482,Relative macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0005461,Craniofacial disproportion,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0006248,Limited wrist movement,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0006335,Persistence of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0006467,Limited shoulder movement,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0007394,Prominent superficial blood vessels,Very frequent (99-80%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0007418,Alopecia totalis,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0007485,Absence of subcutaneous fat,Very frequent (99-80%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0008391,Dystrophic fingernails,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0008573,Low-frequency sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0008647,Pubertal developmental failure in females,Very frequent (99-80%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0008800,Limited hip movement,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0009839,Osteolytic defects of the distal phalanges of the hand,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0009904,Prominent ear helix,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0010296,Ankyloglossia,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0010505,Limitation of movement at ankles,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0010766,Ectopic calcification,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0011079,Impacted tooth,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0011354,Generalized abnormality of skin,Very frequent (99-80%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0011457,Loss of eyelashes,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0011832,Narrow nasal tip,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0012474,Carotid artery occlusion,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0012569,Delayed menarche,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0012804,Corneal ulceration,Very rare (<4-1%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0025168,Left ventricular diastolic dysfunction,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0025169,Left ventricular systolic dysfunction,Very rare (<4-1%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0030002,Nocturnal lagophthalmos,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0030838,Hip pain,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0030880,Raynaud phenomenon,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0100678,Premature skin wrinkling,Very frequent (99-80%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0100679,Lack of skin elasticity,Frequent (79-30%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007467,Orphanet,740,ORPHA:740,93,HP:0200034,Papule,Occasional (29-5%),TAS,,,,"[PMID:20301300, PMID:28660486]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0000651,Diplopia,Very rare (<4-1%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0000751,Personality changes,Occasional (29-5%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0001287,Meningitis,Very rare (<4-1%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0001310,Dysmetria,Very rare (<4-1%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0002921,Abnormality of the cerebrospinal fluid,Very frequent (99-80%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0003401,Paresthesia,Very rare (<4-1%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0003690,Limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0004302,Functional motor deficit,Very frequent (99-80%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0004377,Hematological neoplasm,Occasional (29-5%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0005415,Decreased proportion of CD8-positive T cells,Frequent (79-30%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0007305,CNS demyelination,Very frequent (99-80%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0010549,Weakness due to upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0012246,Oculomotor nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0025479,Self-neglect,Occasional (29-5%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0030516,Homonymous hemianopia,Occasional (29-5%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0031392,Abnormal proportion of CD4-positive T cells,Very frequent (99-80%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0100706,Abnormal oligodendroglia morphology,Very frequent (99-80%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007468,Orphanet,217260,ORPHA:217260,35,HP:0100707,Abnormal astrocyte morphology,Very frequent (99-80%),TAS,,,,"[PMID:26421780, PMID:29231623, PMID:30366552, PMID:31580233]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0000511,Vertical supranuclear gaze palsy,Frequent (79-30%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0000514,Slow saccadic eye movements,Frequent (79-30%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0000605,Supranuclear gaze palsy,Very frequent (99-80%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0000623,Supranuclear ophthalmoplegia,Very frequent (99-80%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0000643,Blepharospasm,Frequent (79-30%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0002171,Gliosis,Frequent (79-30%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0002172,Postural instability,Very frequent (99-80%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0002200,Pseudobulbar signs,Frequent (79-30%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0002317,Unsteady gait,Very frequent (99-80%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0002381,Aphasia,Frequent (79-30%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0002527,Falls,Very frequent (99-80%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0002529,Neuronal loss in central nervous system,Very frequent (99-80%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0012535,Abnormal synaptic transmission,Very frequent (99-80%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007471,Orphanet,683,ORPHA:683,26,HP:0100710,Impulsivity,Very frequent (99-80%),TAS,,,,"[PMID:25732053, PMID:6847139]",y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000294,Low anterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000370,Abnormality of the middle ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0002211,White forelock,Frequent (79-30%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0002715,Abnormality of the immune system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0007473,Crusting erythematous dermatitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0010669,Hypoplasia of the zygomatic bone,Occasional (29-5%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0012786,Recurrent cystitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007473,Orphanet,742,ORPHA:742,39,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000040,Long penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000053,Macroorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000276,Long face,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000311,Round face,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000464,Abnormality of the neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000557,Buphthalmos,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001004,Lymphedema,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001167,Abnormality of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001519,Disproportionate tall stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001555,Asymmetry of the thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0002101,Abnormal lung lobation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0002204,Pulmonary embolism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0002282,Gray matter heterotopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0002858,Meningioma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0003019,Abnormality of the wrist,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0003199,Decreased muscle mass,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0003715,Myofibrillar myopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0004099,Macrodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0004418,Thrombophlebitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0004420,Arterial thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0004490,Calvarial hyperostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0005306,Capillary hemangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0005595,Generalized hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0005916,Abnormal metacarpal morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0007440,Generalized hyperpigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0007552,Abnormal subcutaneous fat tissue distribution,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0007565,Multiple cafe-au-lait spots,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0007818,Central heterochromia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0007899,Retinal nonattachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0008675,Enlarged polycystic ovaries,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0009594,Retinal hamartoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0009804,Tooth agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0009928,Thick nasal alae,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0010497,Sirenomelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0010508,Metatarsus valgus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0010516,Thymus hyperplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0010566,Hamartoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0010788,Testicular neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0010816,Epidermal nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0011276,Vascular skin abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0011386,Narrow internal auditory canal,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0012032,Lipoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0100006,Neoplasm of the central nervous system,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0100026,Arteriovenous malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0100521,Neoplasm of the thymus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0100526,Neoplasm of the lung,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0100555,Asymmetric growth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0100559,Lower limb asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0100560,Upper limb asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0100615,Ovarian neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0100730,Bronchogenic cyst,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0100761,Visceral angiomatosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0100764,Lymphangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0100774,Hyperostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007475,Orphanet,744,ORPHA:744,101,HP:0100777,Exostoses,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0000010,Recurrent urinary tract infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0000014,Abnormality of the bladder,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0000069,Abnormality of the ureter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0000072,Hydroureter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0000076,Vesicoureteral reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0000130,Abnormality of the uterus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0002580,Volvulus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0005199,Aplasia of the abdominal wall musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0010957,Congenital posterior urethral valve,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0011100,Intestinal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007479,Orphanet,2970,ORPHA:2970,34,HP:0100779,Urogenital sinus anomaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007482,Orphanet,132,ORPHA:132,9,HP:0001392,Abnormality of the liver,Very rare (<4-1%),TAS,,,,"[PMID:24478828, PMID:30578021, PMID:30600548, PMID:31082076]",y,y +GARD:0007482,Orphanet,132,ORPHA:132,9,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:24478828, PMID:30578021, PMID:30600548, PMID:31082076]",y,y +GARD:0007482,Orphanet,132,ORPHA:132,9,HP:0001658,Myocardial infarction,Very rare (<4-1%),TAS,,,,"[PMID:24478828, PMID:30578021, PMID:30600548, PMID:31082076]",y,y +GARD:0007482,Orphanet,132,ORPHA:132,9,HP:0002664,Neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:24478828, PMID:30578021, PMID:30600548, PMID:31082076]",y,y +GARD:0007482,Orphanet,132,ORPHA:132,9,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:24478828, PMID:30578021, PMID:30600548, PMID:31082076]",y,y +GARD:0007482,Orphanet,132,ORPHA:132,9,HP:0003470,Paralysis,Very rare (<4-1%),TAS,,,,"[PMID:24478828, PMID:30578021, PMID:30600548, PMID:31082076]",y,y +GARD:0007482,Orphanet,132,ORPHA:132,9,HP:0004887,Respiratory failure requiring assisted ventilation,Very rare (<4-1%),TAS,,,,"[PMID:24478828, PMID:30578021, PMID:30600548, PMID:31082076]",y,y +GARD:0007482,Orphanet,132,ORPHA:132,9,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:24478828, PMID:30578021, PMID:30600548, PMID:31082076]",y,y +GARD:0007482,Orphanet,132,ORPHA:132,9,HP:0031035,Chronic infection,Very rare (<4-1%),TAS,,,,"[PMID:24478828, PMID:30578021, PMID:30600548, PMID:31082076]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000585,Band keratopathy,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000815,Hypergonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000852,Pseudohypoparathyroidism,Obligate (100%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0000876,Oligomenorrhea,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0002135,Basal ganglia calcification,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0002176,Spinal cord compression,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0002199,Hypocalcemic seizures,Very rare (<4-1%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0002684,Thickened calvaria,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0002905,Hyperphosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0003165,Elevated circulating parathyroid hormone level,Very frequent (99-80%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0003456,Low urinary cyclic AMP response to PTH administration,Very frequent (99-80%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0003472,Hypocalcemic tetany,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0003528,Elevated calcitonin,Very rare (<4-1%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0003739,Myoclonic spasms,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0003761,Calcinosis,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0004438,Hyperostosis frontalis interna,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0004704,Short fifth metatarsal,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0006960,Choroid plexus calcification,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0008202,Reduced circulating prolactin concentration,Very rare (<4-1%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0008227,Pituitary resistance to thyroid hormone,Very frequent (99-80%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0009642,Broad distal phalanx of the thumb,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0010027,Broad 1st metacarpal,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0010041,Short 3rd metacarpal,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0010044,Short 4th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0010047,Short 5th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0010743,Short metatarsal,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0011001,Increased bone mineral density,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0011458,Abdominal symptom,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0011869,Abnormal platelet function,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0011986,Ectopic ossification,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0012049,Laryngeal dystonia,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0012185,Constrictive median neuropathy,Frequent (79-30%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0025027,Osteoma cutis,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007486,Orphanet,79443,ORPHA:79443,68,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:10700702, PMID:11834431, PMID:18535072, PMID:18650515, PMID:20610593, PMID:20719837, PMID:2109828, PMID:21525160, PMID:21816789, PMID:24030943, PMID:24684469, PMID:26160136, PMID:2848415, PMID:4309802, PMID:9506735]",y,y +GARD:0007488,Orphanet,26790,ORPHA:26790,12,HP:0001541,Ascites,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007488,Orphanet,26790,ORPHA:26790,12,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0007488,Orphanet,26790,ORPHA:26790,12,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0007488,Orphanet,26790,ORPHA:26790,12,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007488,Orphanet,26790,ORPHA:26790,12,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0007488,Orphanet,26790,ORPHA:26790,12,HP:0002037,Inflammation of the large intestine,Frequent (79-30%),TAS,,,,,y,y +GARD:0007488,Orphanet,26790,ORPHA:26790,12,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0007488,Orphanet,26790,ORPHA:26790,12,HP:0002585,Abnormality of the peritoneum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007488,Orphanet,26790,ORPHA:26790,12,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007488,Orphanet,26790,ORPHA:26790,12,HP:0004298,Abnormality of the abdominal wall,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007488,Orphanet,26790,ORPHA:26790,12,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0007488,Orphanet,26790,ORPHA:26790,12,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0001217,Clubbing,Frequent (79-30%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0001824,Weight loss,Very rare (<4-1%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0002087,Abnormality of the upper respiratory tract,Frequent (79-30%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0002105,Hemoptysis,Very rare (<4-1%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0003651,Foam cells,Frequent (79-30%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0006517,Intraalveolar phospholipid accumulation,Very frequent (99-80%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0010876,Abnormal circulating protein concentration,Frequent (79-30%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0012378,Fatigue,Very rare (<4-1%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0012735,Cough,Occasional (29-5%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0025391,Crazy paving pattern,Occasional (29-5%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0030057,Autoimmune antibody positivity,Frequent (79-30%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0030830,Crackles,Occasional (29-5%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0045051,Decreased DLCO,Frequent (79-30%),TAS,,,,[PMID:21632797],y,y +GARD:0007499,Orphanet,747,ORPHA:747,20,HP:0100749,Chest pain,Very rare (<4-1%),TAS,,,,[PMID:21632797],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0001075,Atrophic scars,Frequent (79-30%),TAS,,,,[PMID:26060412],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0001370,Rheumatoid arthritis,Frequent (79-30%),TAS,,,,[PMID:26060412],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,[PMID:26060412],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0002037,Inflammation of the large intestine,Frequent (79-30%),TAS,,,,[PMID:26060412],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,[PMID:26060412],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0002863,Myelodysplasia,Frequent (79-30%),TAS,,,,[PMID:26060412],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,[PMID:26060412],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,[PMID:26060412],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,[PMID:26060412],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0012324,Myeloid leukemia,Frequent (79-30%),TAS,,,,[PMID:26060412],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0100614,Myositis,Very frequent (99-80%),TAS,,,,[PMID:26060412],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,[PMID:26060412],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0200037,Skin vesicle,Occasional (29-5%),TAS,,,,[PMID:26060412],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0200039,Pustule,Frequent (79-30%),TAS,,,,[PMID:26060412],y,y +GARD:0007510,Orphanet,48104,ORPHA:48104,15,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,[PMID:26060412],y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0000817,Poor eye contact,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0002151,Increased serum lactate,Very frequent (99-80%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0002161,Hyperlysinemia,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0002416,Subependymal cysts,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0002490,Increased CSF lactate,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0002793,Abnormal pattern of respiration,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0003074,Hyperglycemia,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0003228,Hypernatremia,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0003265,Neonatal hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0003348,Hyperalaninemia,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0003429,CNS hypomyelination,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0003542,Increased serum pyruvate,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0003648,Lacticaciduria,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0006999,Basal ganglia gliosis,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0007109,Periventricular cysts,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0008358,Hyperprolinemia,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0011169,Generalized clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0011966,Elevated plasma citrulline,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0012644,Increased caudate lactate level,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0012698,Cerebellar gliosis,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0012706,Elevated brain choline level by MRS,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0012707,Elevated brain lactate level by MRS,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0012708,Reduced brain N-acetyl aspartate level by MRS,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0012762,Cerebral white matter atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0025160,Abnormal temper tantrums,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0025336,Delayed ability to sit,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0030890,Hyperintensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0032653,Elevated lactate:pyruvate ratio,Very frequent (99-80%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0100023,Recurrent hand flapping,Very rare (<4-1%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0410068,Increased level of L-glutamic acid in blood,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0410175,Hyperketonemia,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0500147,Hypoglutaminemia,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0500181,Hypertaurinemia,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0500198,Decreased CSF glutamine concentration,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0500200,Increased CSF glutamate concentration,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0500231,Abnormal CSF pyruvate family amino acid concentration,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0500233,Increased CSF alanine concentration,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007512,Orphanet,3008,ORPHA:3008,70,HP:0500246,Increased CSF citrulline concentration,Frequent (79-30%),TAS,,,,"[PMID:20301764, PMID:30870574]",y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0000243,Trigonocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0000275,Narrow face,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001012,Multiple lipomas,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0100021,Cerebral palsy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007513,Orphanet,765,ORPHA:765,35,HP:0100453,Osteolytic defects of the middle phalanx of the 4th toe,Frequent (79-30%),TAS,,,,,y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0001789,Hydrops fetalis,Frequent (79-30%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0001877,Abnormal erythrocyte morphology,Occasional (29-5%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0001923,Reticulocytosis,Very frequent (99-80%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0003281,Increased circulating ferritin concentration,Frequent (79-30%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0003452,Increased serum iron,Frequent (79-30%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0004447,Poikilocytosis,Occasional (29-5%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0004804,Congenital hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0004870,Chronic hemolytic anemia,Very frequent (99-80%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0006579,Prolonged neonatal jaundice,Frequent (79-30%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0008282,Unconjugated hyperbilirubinemia,Very frequent (99-80%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0011273,Anisocytosis,Occasional (29-5%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0012463,Elevated transferrin saturation,Occasional (29-5%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007514,Orphanet,766,ORPHA:766,15,HP:0025109,Reduced red cell pyruvate kinase level,Very frequent (99-80%),TAS,,,,"[PMID:15982340, PMID:463878]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0001082,Cholecystitis,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0001287,Meningitis,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0001698,Pericardial effusion,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0001701,Pericarditis,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0002098,Respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0002202,Pleural effusion,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0002383,Infectious encephalitis,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0002716,Lymphadenopathy,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0002754,Osteomyelitis,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0002923,Rheumatoid factor positive,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0003262,Smooth muscle antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0003613,Antiphospholipid antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0005162,Abnormal left ventricular function,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0006530,Abnormal pulmonary interstitial morphology,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0010702,Increased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0011034,Amyloidosis,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0012819,Myocarditis,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0020136,Anticardiolipin IgG antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0025015,Abnormal vascular morphology,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0025343,Lupus anticoagulant,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0030166,Night sweats,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0030167,Antimitochondrial antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0032101,Unusual infection,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0032252,Granuloma,Very frequent (99-80%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0040186,Maculopapular exanthema,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0100584,Endocarditis,Occasional (29-5%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007515,Orphanet,781,ORPHA:781,52,HP:0100778,Cryoglobulinemia,Very rare (<4-1%),TAS,,,,"[PMID:18755387, PMID:22226692]",y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0000716,Depression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0000738,Hallucinations,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0000739,Anxiety,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0001604,Vocal cord paresis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0002076,Migraine,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0003781,Excessive salivation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0100021,Cerebral palsy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0100776,Recurrent pharyngitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007516,Orphanet,770,ORPHA:770,19,HP:0100785,Insomnia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0000169,Gingival fibromatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0000189,Narrow palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0000593,Abnormal anterior chamber morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007523,Orphanet,3019,ORPHA:3019,17,HP:0100585,Telangiectasia of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0007548,Orphanet,69076,ORPHA:69076,13,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:29110414, PMID:30942416]",y,y +GARD:0007548,Orphanet,69076,ORPHA:69076,13,HP:0000112,Nephropathy,Obligate (100%),TAS,,,,"[PMID:29110414, PMID:30942416]",y,y +GARD:0007548,Orphanet,69076,ORPHA:69076,13,HP:0000124,Renal tubular dysfunction,Obligate (100%),TAS,,,,"[PMID:29110414, PMID:30942416]",y,y +GARD:0007548,Orphanet,69076,ORPHA:69076,13,HP:0000805,Enuresis,Excluded (0%),TAS,,,,"[PMID:29110414, PMID:30942416]",y,y +GARD:0007548,Orphanet,69076,ORPHA:69076,13,HP:0000855,Insulin resistance,Excluded (0%),TAS,,,,"[PMID:29110414, PMID:30942416]",y,y +GARD:0007548,Orphanet,69076,ORPHA:69076,13,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:29110414, PMID:30942416]",y,y +GARD:0007548,Orphanet,69076,ORPHA:69076,13,HP:0001946,Ketosis,Occasional (29-5%),TAS,,,,"[PMID:29110414, PMID:30942416]",y,y +GARD:0007548,Orphanet,69076,ORPHA:69076,13,HP:0003074,Hyperglycemia,Excluded (0%),TAS,,,,"[PMID:29110414, PMID:30942416]",y,y +GARD:0007548,Orphanet,69076,ORPHA:69076,13,HP:0003076,Glycosuria,Obligate (100%),TAS,,,,"[PMID:29110414, PMID:30942416]",y,y +GARD:0007548,Orphanet,69076,ORPHA:69076,13,HP:0004924,Abnormal oral glucose tolerance,Excluded (0%),TAS,,,,"[PMID:29110414, PMID:30942416]",y,y +GARD:0007548,Orphanet,69076,ORPHA:69076,13,HP:0008855,Moderate postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:29110414, PMID:30942416]",y,y +GARD:0007548,Orphanet,69076,ORPHA:69076,13,HP:0040215,Abnormal circulating insulin level,Excluded (0%),TAS,,,,"[PMID:29110414, PMID:30942416]",y,y +GARD:0007548,Orphanet,69076,ORPHA:69076,13,HP:0040217,Elevated hemoglobin A1c,Excluded (0%),TAS,,,,"[PMID:29110414, PMID:30942416]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0000555,Leukocoria,Frequent (79-30%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0001100,Heterochromia iridis,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0001909,Leukemia,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0002669,Osteosarcoma,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0002859,Rhabdomyosarcoma,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0007862,Retinal calcification,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0007902,Vitreous hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0009733,Glioma,Very rare (<4-1%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0009919,Retinoblastoma,Obligate (100%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0011886,Hyphema,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0012254,Ewing sarcoma,Very rare (<4-1%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0012372,Abnormal eye morphology,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0025244,Subretinal pigment epithelium hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0025337,Red eye,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0030408,Pineoblastoma,Very rare (<4-1%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0031615,Hypopyon,Frequent (79-30%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0100243,Leiomyosarcoma,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007563,Orphanet,790,ORPHA:790,27,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,"[PMID:20029477, PMID:21150892, PMID:22414599, PMID:25126964, PMID:26755259, PMID:6654325]",y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0002315,Headache,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0002896,Neoplasm of the liver,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0006824,Cranial nerve paralysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0009726,Renal neoplasm,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0011029,Internal hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0012246,Oculomotor nerve palsy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0100006,Neoplasm of the central nervous system,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0100021,Cerebral palsy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007572,Orphanet,69077,ORPHA:69077,24,HP:0100242,Sarcoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0000522,Alacrima,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0000615,Abnormal pupil morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0001063,Acrocyanosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0001100,Heterochromia iridis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0001278,Orthostatic hypotension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0002047,Malignant hyperthermia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0002103,Abnormal pleura morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0002585,Abnormality of the peritoneum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0007328,Impaired pain sensation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0100820,Glomerulopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007581,Orphanet,1764,ORPHA:1764,37,HP:0200020,Corneal erosion,Frequent (79-30%),TAS,,,,,y,y +GARD:0007588,Orphanet,158014,ORPHA:158014,12,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007588,Orphanet,158014,ORPHA:158014,12,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0007588,Orphanet,158014,ORPHA:158014,12,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007588,Orphanet,158014,ORPHA:158014,12,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007588,Orphanet,158014,ORPHA:158014,12,HP:0002315,Headache,Occasional (29-5%),TAS,,,,,y,y +GARD:0007588,Orphanet,158014,ORPHA:158014,12,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007588,Orphanet,158014,ORPHA:158014,12,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007588,Orphanet,158014,ORPHA:158014,12,HP:0002961,Dysgammaglobulinemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007588,Orphanet,158014,ORPHA:158014,12,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007588,Orphanet,158014,ORPHA:158014,12,HP:0010550,Paraplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007588,Orphanet,158014,ORPHA:158014,12,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,,y,y +GARD:0007588,Orphanet,158014,ORPHA:158014,12,HP:0200034,Papule,Occasional (29-5%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000579,Nasolacrimal duct obstruction,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0000987,Atypical scarring of skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0001531,Failure to thrive in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0005306,Capillary hemangioma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0009832,Abnormal distal phalanx morphology of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0010059,Broad hallux phalanx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0010562,Keloids,Occasional (29-5%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007593,Orphanet,783,ORPHA:783,45,HP:0100760,Clubbing of toes,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000189,Narrow palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000294,Low anterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000327,Hypoplasia of the maxilla,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000643,Blepharospasm,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0001199,Triphalangeal thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0005037,Proximal radio-ulnar synostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0008572,External ear malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0009738,Abnormal antihelix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0009899,Prominent crus of helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0010720,Abnormal hair pattern,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0010807,Open bite,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0011386,Narrow internal auditory canal,Frequent (79-30%),TAS,,,,,y,y +GARD:0007598,Orphanet,794,ORPHA:794,52,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0000765,Abnormal thorax morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0000925,Abnormality of the vertebral column,Frequent (79-30%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0000969,Edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0001061,Acne,Frequent (79-30%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0001581,Recurrent skin infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0002037,Inflammation of the large intestine,Occasional (29-5%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0002570,Steatorrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0002754,Osteomyelitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0003765,Psoriasiform dermatitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0005464,Craniofacial osteosclerosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0010622,Neoplasm of the skeletal system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0100686,Enthesitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0100749,Chest pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0100769,Synovitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0100774,Hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0100781,Abnormal sacroiliac joint morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0100847,Palmoplantar pustulosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007606,Orphanet,793,ORPHA:793,30,HP:0200039,Pustule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000433,Abnormal nasal mucosa morphology,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000502,Abnormal conjunctiva morphology,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000554,Uveitis,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000620,Dacryocystitis,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000834,Abnormality of the adrenal glands,Very rare (<4-1%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000836,Hyperthyroidism,Very rare (<4-1%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001097,Keratoconjunctivitis sicca,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001410,Decreased liver function,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001878,Hemolytic anemia,Very rare (<4-1%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001880,Eosinophilia,Very rare (<4-1%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001945,Fever,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0001970,Tubulointerstitial nephritis,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002045,Hypothermia,Very rare (<4-1%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002088,Abnormal lung morphology,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002097,Emphysema,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002103,Abnormal pleura morphology,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002105,Hemoptysis,Very rare (<4-1%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002107,Pneumothorax,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002110,Bronchiectasis,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002150,Hypercalciuria,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002202,Pleural effusion,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002733,Abnormality of the lymph nodes,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002781,Upper airway obstruction,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002921,Abnormality of the cerebrospinal fluid,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0002922,Increased CSF protein,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0003011,Abnormality of the musculature,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0003701,Proximal muscle weakness,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0004756,Ventricular tachycardia,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0007734,Enlarged lacrimal glands,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0010310,Chylothorax,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0011121,Abnormality of skin morphology,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0011801,Enlargement of parotid gland,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0011850,Parotitis,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0012062,Bone cyst,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0012219,Erythema nodosum,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0012243,Abnormal reproductive system morphology,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0012722,Heart block,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0012735,Cough,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0030146,Abnormal liver parenchyma morphology,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0030872,Abnormal cardiac ventricular function,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0040186,Maculopapular exanthema,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0100699,Scarring,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0100828,Increased T cell count,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0200035,Skin plaque,Occasional (29-5%),TAS,,,,[PMID:10430755],y,y +GARD:0007607,Orphanet,797,ORPHA:797,75,HP:0200036,Skin nodule,Frequent (79-30%),TAS,,,,[PMID:10430755],y,y +GARD:0007610,Orphanet,3135,ORPHA:3135,2,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007610,Orphanet,3135,ORPHA:3135,2,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007611,Orphanet,3143,ORPHA:3143,11,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007611,Orphanet,3143,ORPHA:3143,11,HP:0000820,Abnormality of the thyroid gland,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007611,Orphanet,3143,ORPHA:3143,11,HP:0000829,Hypoparathyroidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007611,Orphanet,3143,ORPHA:3143,11,HP:0000872,Hashimoto thyroiditis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007611,Orphanet,3143,ORPHA:3143,11,HP:0001053,Hypopigmented skin patches,Frequent (79-30%),TAS,,,,,y,y +GARD:0007611,Orphanet,3143,ORPHA:3143,11,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007611,Orphanet,3143,ORPHA:3143,11,HP:0002608,Celiac disease,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007611,Orphanet,3143,ORPHA:3143,11,HP:0003011,Abnormality of the musculature,Frequent (79-30%),TAS,,,,,y,y +GARD:0007611,Orphanet,3143,ORPHA:3143,11,HP:0008207,Primary adrenal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007611,Orphanet,3143,ORPHA:3143,11,HP:0100647,Graves disease,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007611,Orphanet,3143,ORPHA:3143,11,HP:0100651,Type I diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0000464,Abnormality of the neck,Frequent (79-30%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0002056,Abnormality of the glabella,Frequent (79-30%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0002088,Abnormal lung morphology,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0002326,Transient ischemic attack,Very rare (<4-1%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0002875,Exertional dyspnea,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0002926,Abnormality of thyroid physiology,Excluded (0%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0002973,Abnormality of the forearm,Frequent (79-30%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0006704,Abnormal coronary artery morphology,Very rare (<4-1%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0006775,Multiple myeloma,Very rare (<4-1%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0008509,Aged leonine appearance,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0011354,Generalized abnormality of skin,Very frequent (99-80%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0011805,Abnormal skeletal muscle morphology,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0011838,Sclerodactyly,Frequent (79-30%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0025512,Skin-colored papule,Frequent (79-30%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0030053,Stiff skin,Frequent (79-30%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0030178,Abnormality of central nervous system electrophysiology,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0030880,Raynaud phenomenon,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0030966,Abnormal pulmonary artery morphology,Very rare (<4-1%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0031047,Paraproteinemia,Very frequent (99-80%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0100771,Hypoperistalsis,Occasional (29-5%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007615,Orphanet,167635,ORPHA:167635,41,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,"[PMID:23874293, PMID:25215418, PMID:31115676, PMID:32358980]",y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0000458,Anosmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0000609,Optic nerve hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0001331,Absent septum pellucidum,Frequent (79-30%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0002032,Esophageal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0010627,Anterior pituitary hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007627,Orphanet,3157,ORPHA:3157,33,HP:0100842,Septo-optic dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0000656,Ectropion,Occasional (29-5%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0000969,Edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0001019,Erythroderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0002103,Abnormal pleura morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0002665,Lymphoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0004332,Abnormal lymphocyte morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0007400,Irregular hyperpigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0008069,Neoplasm of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0010701,Abnormal immunoglobulin level,Occasional (29-5%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0012192,Cutaneous T-cell lymphoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0100725,Lichenification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007629,Orphanet,3162,ORPHA:3162,26,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,,y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0000141,Amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0000709,Psychosis,Very rare (<4-1%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0000863,Central diabetes insipidus,Very rare (<4-1%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0000871,Panhypopituitarism,Very frequent (99-80%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0000872,Hashimoto thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0000876,Oligomenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0001278,Orthostatic hypotension,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0001895,Normochromic anemia,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0002215,Sparse axillary hair,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0002225,Sparse pubic hair,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0003158,Hyposthenuria,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0003187,Breast hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0007041,Chronic lymphocytic meningitis,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0007987,Progressive visual field defects,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0008163,Decreased circulating cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0008202,Reduced circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0008213,Gonadotropin deficiency,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0008214,Decreased serum estradiol,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0008240,Secondary growth hormone deficiency,Very frequent (99-80%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0011734,Central adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0011735,Adrenocorticotropin deficient adrenal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0011748,Adrenocorticotropic hormone deficiency,Very frequent (99-80%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0012432,Chronic fatigue,Very frequent (99-80%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0012504,Abnormal size of pituitary gland,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0030016,Dyspareunia,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0030018,Decreased female libido,Frequent (79-30%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007630,Orphanet,91355,ORPHA:91355,49,HP:0030907,Thunderclap headache,Occasional (29-5%),TAS,,,,"[PMID:12583962, PMID:17012482, PMID:21041170, PMID:21041172, PMID:22201118, PMID:24842349, PMID:25223643]",y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000023,Inguinal hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000277,Abnormal mandible morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000336,Prominent supraorbital ridges,Occasional (29-5%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000485,Megalocornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000593,Abnormal anterior chamber morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000615,Abnormal pupil morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000627,Posterior embryotoxon,Occasional (29-5%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0000855,Insulin resistance,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0007392,Excessive wrinkled skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0007676,Hypoplasia of the iris,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0009125,Lipodystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0010668,Abnormal zygomatic bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0007633,Orphanet,3163,ORPHA:3163,37,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0000488,Retinopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0000529,Progressive visual loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0000943,Dysostosis multiplex,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0001350,Slurred speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0003461,Increased urinary O-linked sialopeptides,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0010729,Cherry red spot of the macula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0011276,Vascular skin abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0012061,Urinary excretion of sialylated oligosaccharides,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007639,Orphanet,812,ORPHA:812,42,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000003,Multicystic kidney dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000072,Hydroureter,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000073,Ureteral duplication,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000204,Cleft upper lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001539,Omphalocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001657,Prolonged QT interval,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001748,Polysplenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001769,Broad foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001792,Small nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001831,Short toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0002164,Nail dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0002558,Supernumerary nipple,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0002667,Nephroblastoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0002884,Hepatoblastoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0002948,Vertebral fusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0003006,Neuroblastoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0003212,Increased circulating IgE level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0003422,Vertebral segmentation defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0004510,Pancreatic islet-cell hyperplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0005616,Accelerated skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0009536,Short 2nd finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0011039,Abnormal helix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0011710,Bundle branch block,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007649,Orphanet,373,ORPHA:373,79,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0007652,Orphanet,3169,ORPHA:3169,10,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007652,Orphanet,3169,ORPHA:3169,10,HP:0000079,Abnormality of the urinary system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007652,Orphanet,3169,ORPHA:3169,10,HP:0001626,Abnormality of the cardiovascular system,Frequent (79-30%),TAS,,,,,y,y +GARD:0007652,Orphanet,3169,ORPHA:3169,10,HP:0002023,Anal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007652,Orphanet,3169,ORPHA:3169,10,HP:0002414,Spina bifida,Frequent (79-30%),TAS,,,,,y,y +GARD:0007652,Orphanet,3169,ORPHA:3169,10,HP:0002575,Tracheoesophageal fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0007652,Orphanet,3169,ORPHA:3169,10,HP:0006501,Aplasia/Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0007652,Orphanet,3169,ORPHA:3169,10,HP:0008678,Renal hypoplasia/aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007652,Orphanet,3169,ORPHA:3169,10,HP:0010305,Absence of the sacrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007652,Orphanet,3169,ORPHA:3169,10,HP:0010497,Sirenomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0000488,Retinopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0000608,Macular degeneration,Frequent (79-30%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0001025,Urticaria,Occasional (29-5%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0001264,Spastic diplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0007440,Generalized hyperpigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0100533,Inflammatory abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0007654,Orphanet,816,ORPHA:816,28,HP:0200020,Corneal erosion,Frequent (79-30%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0000965,Cutis marmorata,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0001123,Visual field defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0001727,Thromboembolic stroke,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0002076,Migraine,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0002321,Vertigo,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0003613,Antiphospholipid antibody positivity,Occasional (29-5%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0011276,Vascular skin abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0100545,Arterial stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007664,Orphanet,820,ORPHA:820,24,HP:0100576,Amaurosis fugax,Frequent (79-30%),TAS,,,,,y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0002062,Morphological abnormality of the pyramidal tract,Frequent (79-30%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0007340,Lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0011730,Abnormal central sensory function,Frequent (79-30%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0012534,Dysesthesia,Very frequent (99-80%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0031006,Acroparesthesia,Frequent (79-30%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0045084,Limb myoclonus,Occasional (29-5%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007690,Orphanet,356,ORPHA:356,18,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301407, PMID:30103963]",y,y +GARD:0007693,Orphanet,3181,ORPHA:3181,6,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0007693,Orphanet,3181,ORPHA:3181,6,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007693,Orphanet,3181,ORPHA:3181,6,HP:0000473,Torticollis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007693,Orphanet,3181,ORPHA:3181,6,HP:0001435,Abnormality of the shoulder girdle musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007693,Orphanet,3181,ORPHA:3181,6,HP:0003043,Abnormal shoulder morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007693,Orphanet,3181,ORPHA:3181,6,HP:0008952,Shoulder muscle hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007695,Orphanet,22,ORPHA:22,9,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0007695,Orphanet,22,ORPHA:22,9,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007695,Orphanet,22,ORPHA:22,9,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007695,Orphanet,22,ORPHA:22,9,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007695,Orphanet,22,ORPHA:22,9,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007695,Orphanet,22,ORPHA:22,9,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007695,Orphanet,22,ORPHA:22,9,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007695,Orphanet,22,ORPHA:22,9,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007695,Orphanet,22,ORPHA:22,9,HP:0002133,Status epilepticus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0000621,Entropion,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0000795,Abnormality of the urethra,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0001637,Abnormal myocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0001874,Abnormality of neutrophils,Frequent (79-30%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0001960,Hypokalemic metabolic alkalosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0002043,Esophageal stricture,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0002103,Abnormal pleura morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0003781,Excessive salivation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0006554,Acute hepatic failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0012735,Cough,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0030016,Dyspareunia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0100518,Dysuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0100792,Acantholysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007700,Orphanet,36426,ORPHA:36426,39,HP:0200020,Corneal erosion,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000364,Hearing abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000524,Conjunctival telangiectasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000610,Abnormal choroid morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0001100,Heterochromia iridis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0001131,Corneal dystrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0001297,Stroke,Frequent (79-30%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0005306,Capillary hemangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0008046,Abnormal retinal vascular morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0012377,Hemianopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0100659,Abnormal cerebral vascular morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0100761,Visceral angiomatosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007706,Orphanet,3205,ORPHA:3205,37,HP:0100774,Hyperostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007710,Orphanet,35122,ORPHA:35122,4,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:23103650, PMID:26163121]",y,y +GARD:0007710,Orphanet,35122,ORPHA:35122,4,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:23103650, PMID:26163121]",y,y +GARD:0007710,Orphanet,35122,ORPHA:35122,4,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:23103650, PMID:26163121]",y,y +GARD:0007710,Orphanet,35122,ORPHA:35122,4,HP:0011848,Abdominal colic,Occasional (29-5%),TAS,,,,"[PMID:23103650, PMID:26163121]",y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0000751,Personality changes,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0002493,Upper motor neuron dysfunction,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,[PMID:26219936],y,y +GARD:0007713,Orphanet,838,ORPHA:838,23,HP:0100851,Abnormal emotion/affect behavior,Occasional (29-5%),TAS,,,,[PMID:26219936],y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0000182,Movement abnormality of the tongue,Frequent (79-30%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0000273,Facial grimacing,Frequent (79-30%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0000719,Inappropriate behavior,Frequent (79-30%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0003095,Septic arthritis,Occasional (29-5%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0005366,Recurrent streptococcus pneumoniae infections,Occasional (29-5%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0100248,Hemiballismus,Frequent (79-30%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007716,Orphanet,306731,ORPHA:306731,17,HP:0100584,Endocarditis,Occasional (29-5%),TAS,,,,"[PMID:16533893, PMID:21386976]",y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0001646,Abnormal aortic valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0001654,Abnormal heart valve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0001658,Myocardial infarction,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0002092,Pulmonary arterial hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0002617,Vascular dilatation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0002633,Vasculitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0002637,Cerebral ischemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0002793,Abnormal pattern of respiration,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0004306,Abnormal endocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0004970,Ascending tubular aorta aneurysm,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0005244,Gastrointestinal infarctions,Occasional (29-5%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0012649,Increased inflammatory response,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0100533,Inflammatory abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0100545,Arterial stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0100576,Amaurosis fugax,Occasional (29-5%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0100735,Hypertensive crisis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0100758,Gangrene,Frequent (79-30%),TAS,,,,,y,y +GARD:0007730,Orphanet,3287,ORPHA:3287,38,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0000656,Ectropion,Frequent (79-30%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0002730,Chronic noninfectious lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0003146,Hypocholesterolemia,Very frequent (99-80%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0004943,Accelerated atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0005145,Coronary artery stenosis,Frequent (79-30%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0007133,Progressive peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0030814,Orange discolored tonsils,Frequent (79-30%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007731,Orphanet,31150,ORPHA:31150,22,HP:0100546,Carotid artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:10431236, PMID:10431238, PMID:10525055, PMID:18955690, PMID:195100, PMID:4165386]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0001377,Limited elbow extension,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0001433,Hepatosplenomegaly,Excluded (0%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002171,Gliosis,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002191,Progressive spasticity,Very frequent (99-80%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002267,Exaggerated startle response,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002283,Global brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002311,Incoordination,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0003066,Limited knee extension,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0003333,Increased serum beta-hexosaminidase,Very rare (<4-1%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0003495,GM2-ganglioside accumulation,Very frequent (99-80%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0004481,Progressive macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0007103,Hypointensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0008959,Distal upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0009050,Quadriceps muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0009088,Speech articulation difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0010729,Cherry red spot of the macula,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0010969,Abnormality of glycolipid metabolism,Very frequent (99-80%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0011147,Typical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0011448,Ankle clonus,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0011951,Aspiration pneumonia,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0012049,Laryngeal dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0012515,Hip flexor weakness,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0012696,Abnormal thalamic MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0025013,Decerebrate rigidity,Very rare (<4-1%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0031358,Vegetative state,Very rare (<4-1%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007737,Orphanet,845,ORPHA:845,69,HP:0100754,Mania,Occasional (29-5%),TAS,,,,"[PMID:20301397, PMID:29943104, PMID:30038128]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0000036,Abnormal penis morphology,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0000217,Xerostomia,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0000491,Keratitis,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0000509,Conjunctivitis,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0000600,Abnormality of the pharynx,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0000987,Atypical scarring of skin,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0001097,Keratoconjunctivitis sicca,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0001128,Trichiasis,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0001600,Abnormality of the larynx,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0001798,Anonychia,Very rare (<4-1%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0004378,Abnormality of the anus,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0004386,Gastrointestinal inflammation,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0006528,Chronic lung disease,Very rare (<4-1%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0008404,Nail dystrophy,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0008682,Renal tubular epithelial necrosis,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0010285,Oral synechia,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0011123,Inflammatory abnormality of the skin,Very frequent (99-80%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0011354,Generalized abnormality of skin,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0012122,Anterior uveitis,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0012375,Chemosis,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0012384,Rhinitis,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0012594,Moderate albuminuria,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0025416,Vaginal stricture,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0025426,Abnormal bronchus morphology,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0025439,Pharyngitis,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0030943,Vulvodynia,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0030953,Conjunctival hyperemia,Very frequent (99-80%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0031088,Vaginal dryness,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0031368,Intestinal perforation,Very rare (<4-1%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0031464,Genital blistering,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0031731,Increased tear production,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0100518,Dysuria,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0100792,Acantholysis,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0200020,Corneal erosion,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0200097,Oral mucosal blisters,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0200136,Oral-pharyngeal dysphagia,Frequent (79-30%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007743,Orphanet,95455,ORPHA:95455,64,HP:0430007,Symblepharon,Occasional (29-5%),TAS,,,,"[PMID:26481651, PMID:27716721, PMID:8420497]",y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0008209,Premature ovarian insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0010978,Abnormality of immune system physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007754,Orphanet,9,ORPHA:9,17,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007759,Orphanet,97330,ORPHA:97330,11,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,[PMID:26251937],y,y +GARD:0007759,Orphanet,97330,ORPHA:97330,11,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,[PMID:26251937],y,y +GARD:0007759,Orphanet,97330,ORPHA:97330,11,HP:0000969,Edema,Frequent (79-30%),TAS,,,,[PMID:26251937],y,y +GARD:0007759,Orphanet,97330,ORPHA:97330,11,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:26251937],y,y +GARD:0007759,Orphanet,97330,ORPHA:97330,11,HP:0002619,Varicose veins,Occasional (29-5%),TAS,,,,[PMID:26251937],y,y +GARD:0007759,Orphanet,97330,ORPHA:97330,11,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,[PMID:26251937],y,y +GARD:0007759,Orphanet,97330,ORPHA:97330,11,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,[PMID:26251937],y,y +GARD:0007759,Orphanet,97330,ORPHA:97330,11,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,[PMID:26251937],y,y +GARD:0007759,Orphanet,97330,ORPHA:97330,11,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,[PMID:26251937],y,y +GARD:0007759,Orphanet,97330,ORPHA:97330,11,HP:0003457,EMG abnormality,Occasional (29-5%),TAS,,,,[PMID:26251937],y,y +GARD:0007759,Orphanet,97330,ORPHA:97330,11,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,[PMID:26251937],y,y +GARD:0007772,Orphanet,42665,ORPHA:42665,6,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007772,Orphanet,42665,ORPHA:42665,6,HP:0000593,Abnormal anterior chamber morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007772,Orphanet,42665,ORPHA:42665,6,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007772,Orphanet,42665,ORPHA:42665,6,HP:0001010,Hypopigmentation of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007772,Orphanet,42665,ORPHA:42665,6,HP:0002226,White eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007772,Orphanet,42665,ORPHA:42665,6,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000089,Renal hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000130,Abnormality of the uterus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000142,Abnormal vagina morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000143,Rectovaginal fistula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000384,Preauricular skin tag,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001140,Limbal dermoid,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001177,Preaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001199,Triphalangeal thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001545,Anteriorly placed anus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001641,Abnormal pulmonary valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0001863,Toe clinodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0002023,Anal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0004792,Rectoperineal fistula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0008572,External ear malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0009465,Ulnar deviation of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0009912,Abnormal tragus morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0009944,Partial duplication of thumb phalanx,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0010059,Broad hallux phalanx,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0010331,Aplasia/Hypoplasia of the 3rd toe,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0010481,Urethral valve,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0010760,Absent toe,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007784,Orphanet,857,ORPHA:857,66,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0000264,Abnormality of the mastoid,Frequent (79-30%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0000679,Taurodontia,Frequent (79-30%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0001808,Fragile nails,Frequent (79-30%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0006285,Enamel hypomineralization,Frequent (79-30%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0006485,Agenesis of incisor,Occasional (29-5%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0009722,Dental enamel pits,Frequent (79-30%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0011001,Increased bone mineral density,Frequent (79-30%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0011362,Abnormal hair quantity,Frequent (79-30%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0030312,Obliteration of the calvarial diploe,Frequent (79-30%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0030758,Periapical tooth abscess,Frequent (79-30%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007799,Orphanet,3352,ORPHA:3352,16,HP:0040019,Finger clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:2387085, PMID:5054226]",y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0001582,Redundant skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0002002,Deep philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0005039,Multiple long-bone exostoses,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0009118,Aplasia/Hypoplasia of the mandible,Frequent (79-30%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0009928,Thick nasal alae,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0010230,Cone-shaped epiphyses of the phalanges of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007801,Orphanet,502,ORPHA:502,38,HP:0100777,Exostoses,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0000183,Difficulty in tongue movements,Frequent (79-30%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0000716,Depression,Very frequent (99-80%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0000740,Episodic paroxysmal anxiety,Frequent (79-30%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0001293,Cranial nerve compression,Occasional (29-5%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0004948,Vascular tortuosity,Frequent (79-30%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0007305,CNS demyelination,Occasional (29-5%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0011096,Peripheral demyelination,Occasional (29-5%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0012199,Cluster headache,Very frequent (99-80%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0012533,Allodynia,Very frequent (99-80%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0100661,Trigeminal neuralgia,Obligate (100%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0200025,Mandibular pain,Frequent (79-30%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007805,Orphanet,221091,ORPHA:221091,17,HP:0200026,Ocular pain,Occasional (29-5%),TAS,,,,"[PMID:11565877, PMID:11960159, PMID:12940815, PMID:14315671, PMID:1983882, PMID:24534115, PMID:2716987, PMID:27306631, PMID:5334334]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000140,Abnormality of the menstrual cycle,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000491,Keratitis,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000738,Hallucinations,Very rare (<4-1%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000789,Infertility,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000802,Impotence,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000818,Abnormality of the endocrine system,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000847,Abnormality of renin-angiotensin system,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001085,Papilledema,Very rare (<4-1%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001101,Iritis,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001262,Excessive daytime somnolence,Very frequent (99-80%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001345,Psychotic mentation,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001622,Premature birth,Very rare (<4-1%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001701,Pericarditis,Very rare (<4-1%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001709,Third degree atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002196,Myelopathy,Very rare (<4-1%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002304,Akinesia,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002476,Primitive reflex,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002494,Abnormal rapid eye movement sleep,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0003115,Abnormal EKG,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0003470,Paralysis,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0005268,Miscarriage,Very rare (<4-1%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0005521,Disseminated intravascular coagulation,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0006979,Sleep-wake cycle disturbance,Very frequent (99-80%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0007178,Motor polyneuropathy,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0010831,Impaired proprioception,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0011442,Abnormal central motor function,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0011706,Second degree atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0011731,Abnormality of circulating cortisol level,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0012486,Myelitis,Very rare (<4-1%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0012751,Abnormal basal ganglia MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0012819,Myocarditis,Very rare (<4-1%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0025145,Rigors,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0025475,Erythematous macule,Very rare (<4-1%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0030050,Narcolepsy,Very frequent (99-80%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0031258,Delirium,Very rare (<4-1%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0032323,Periodic fever,Very frequent (99-80%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0032367,Abnormal growth hormone level,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0040086,Abnormal prolactin level,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0100653,Optic neuritis,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0100785,Insomnia,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007826,Orphanet,3385,ORPHA:3385,87,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:22632638, PMID:23260189]",y,y +GARD:0007827,Orphanet,3389,ORPHA:3389,5,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:2196687, PMID:23074119, PMID:25888831, PMID:27523895]",y,y +GARD:0007827,Orphanet,3389,ORPHA:3389,5,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:2196687, PMID:23074119, PMID:25888831, PMID:27523895]",y,y +GARD:0007827,Orphanet,3389,ORPHA:3389,5,HP:0002088,Abnormal lung morphology,Frequent (79-30%),TAS,,,,"[PMID:2196687, PMID:23074119, PMID:25888831, PMID:27523895]",y,y +GARD:0007827,Orphanet,3389,ORPHA:3389,5,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:2196687, PMID:23074119, PMID:25888831, PMID:27523895]",y,y +GARD:0007827,Orphanet,3389,ORPHA:3389,5,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:2196687, PMID:23074119, PMID:25888831, PMID:27523895]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0000077,Abnormality of the kidney,Very frequent (99-80%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0000107,Renal cyst,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0000113,Polycystic kidney dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0000717,Autism,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0001407,Hepatic cysts,Occasional (29-5%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0002133,Status epilepticus,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0002539,Cortical dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0002666,Pheochromocytoma,Very rare (<4-1%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0002878,Respiratory failure,Very rare (<4-1%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0002893,Pituitary adenoma,Very rare (<4-1%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0002897,Parathyroid adenoma,Very rare (<4-1%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0003774,Stage 5 chronic kidney disease,Very rare (<4-1%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0004942,Aortic aneurysm,Very rare (<4-1%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0005584,Renal cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0006772,Renal angiomyolipoma,Occasional (29-5%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0007449,Confetti-like hypopigmented macules,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0008208,Parathyroid hyperplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0008762,Repetitive compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0009594,Retinal hamartoma,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0009716,Subependymal nodules,Very frequent (99-80%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0009717,Cortical tubers,Very frequent (99-80%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0009718,Subependymal giant-cell astrocytoma,Occasional (29-5%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0009719,Hypomelanotic macule,Very frequent (99-80%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0009721,Shagreen patch,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0009729,Cardiac rhabdomyoma,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0010615,Angiofibromas,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0010953,Noncommunicating hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0011029,Internal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0011097,Epileptic spasm,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0011354,Generalized abnormality of skin,Very frequent (99-80%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0011947,Respiratory tract infection,Occasional (29-5%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0012433,Abnormal social behavior,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0012469,Infantile spasms,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0012778,Retinal astrocytic hamartoma,Very rare (<4-1%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0012798,Pulmonary lymphangiomyomatosis,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0030405,Pancreatic endocrine tumor,Very rare (<4-1%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0040030,Chorioretinal hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0100570,Carcinoid tumor,Very rare (<4-1%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0100710,Impulsivity,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0100716,Self-injurious behavior,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0100804,Ungual fibroma,Occasional (29-5%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0200035,Skin plaque,Frequent (79-30%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007830,Orphanet,805,ORPHA:805,62,HP:0200040,Epidermoid cyst,Occasional (29-5%),TAS,,,,"[PMID:20301399, PMID:31964424]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000137,Abnormality of the ovary,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000150,Gonadoblastoma,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000471,Gastrointestinal angiodysplasia,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000474,Thickened nuchal skin fold,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000475,Broad neck,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000476,Cystic hygroma,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000758,Abnormal nonverbal communicative behavior,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000842,Hyperinsulinemia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000869,Secondary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000872,Hashimoto thyroiditis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000879,Short sternum,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000914,Shield chest,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000987,Atypical scarring of skin,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0000995,Melanocytic nevus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001045,Vitiligo,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001394,Cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001395,Hepatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001812,Hyperconvex fingernails,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0001952,Glucose intolerance,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002037,Inflammation of the large intestine,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002608,Celiac disease,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002611,Cholestatic liver disease,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002613,Biliary cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002647,Aortic dissection,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002861,Melanoma,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0002967,Cubitus valgus,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0003067,Madelung deformity,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0003077,Hyperlipidemia,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0003492,High urinary gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0003764,Nevus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0004383,Hypoplastic left heart,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0004386,Gastrointestinal inflammation,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0005113,Aortic arch aneurysm,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0005294,Arterial dissection,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0005603,Numerous congenital melanocytic nevi,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0005689,Dermatoglyphic ridges abnormal,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0006438,Enlargement of the distal femoral epiphysis,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0006456,Irregular proximal tibial epiphyses,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0006709,Aplasia/Hypoplasia of the nipples,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0008209,Premature ovarian insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0008222,Female infertility,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0008572,External ear malformation,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0008678,Renal hypoplasia/aplasia,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0009118,Aplasia/Hypoplasia of the mandible,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0009759,Neck pterygia,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0010044,Short 4th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0010047,Short 5th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0010510,Hypermobility of toe joints,Frequent (79-30%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0011307,Splayed toes,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0012434,Delayed social development,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0012758,Neurodevelopmental delay,Very rare (<4-1%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0012774,Increased upper to lower segment ratio,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0040073,Abnormal forearm bone morphology,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0100625,Enlarged thorax,Very frequent (99-80%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007831,Orphanet,881,ORPHA:881,114,HP:0100646,Thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:14752843, PMID:17047017, PMID:17873120, PMID:18839441, PMID:20594638, PMID:22707402, PMID:22802424, PMID:23173989, PMID:23603786, PMID:24731013, PMID:25438673, PMID:25517026, PMID:25573747, PMID:26039527, PMID:26744895, PMID:26874361, PMID:27008889, PMID:28705803]",y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000144,Decreased fertility,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000529,Progressive visual loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000662,Nyctalopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000716,Depression,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0001123,Visual field defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0001751,Vestibular dysfunction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0003457,EMG abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0008499,High hypermetropia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0008568,Vestibular areflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0010780,Hyperacusis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0011025,Abnormal cardiovascular system physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0011073,Abnormality of dental color,Occasional (29-5%),TAS,,,,,y,y +GARD:0007843,Orphanet,886,ORPHA:886,34,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0000011,Neurogenic bladder,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0000738,Hallucinations,Very rare (<4-1%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0000998,Hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0001056,Milia,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0001392,Abnormality of the liver,Very rare (<4-1%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0001402,Hepatocellular carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0001903,Anemia,Very rare (<4-1%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0002203,Respiratory paralysis,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0002273,Tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0002595,Ileus,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0003163,Elevated urinary delta-aminolevulinic acid,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0003418,Back pain,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0007178,Motor polyneuropathy,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0008997,Proximal muscle weakness in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0010472,Abnormal circulating porphyrin concentration,Very frequent (99-80%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0010473,Porphyrinuria,Very frequent (99-80%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0011355,Localized skin lesion,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0011999,Paranoia,Very rare (<4-1%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0012217,Increased urinary porphobilinogen,Very frequent (99-80%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0012622,Chronic kidney disease,Very rare (<4-1%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0031218,Inappropriate antidiuretic hormone secretion,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0100699,Scarring,Occasional (29-5%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0200037,Skin vesicle,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007848,Orphanet,79473,ORPHA:79473,48,HP:0200041,Skin erosion,Frequent (79-30%),TAS,,,,"[PMID:12357337, PMID:20309300, PMID:22049218, PMID:31085196]",y,y +GARD:0007851,Orphanet,889,ORPHA:889,14,HP:0000163,Abnormal oral cavity morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007851,Orphanet,889,ORPHA:889,14,HP:0000965,Cutis marmorata,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007851,Orphanet,889,ORPHA:889,14,HP:0000979,Purpura,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007851,Orphanet,889,ORPHA:889,14,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,,y,y +GARD:0007851,Orphanet,889,ORPHA:889,14,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007851,Orphanet,889,ORPHA:889,14,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0007851,Orphanet,889,ORPHA:889,14,HP:0001581,Recurrent skin infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007851,Orphanet,889,ORPHA:889,14,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007851,Orphanet,889,ORPHA:889,14,HP:0002633,Vasculitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007851,Orphanet,889,ORPHA:889,14,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007851,Orphanet,889,ORPHA:889,14,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007851,Orphanet,889,ORPHA:889,14,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007851,Orphanet,889,ORPHA:889,14,HP:0100758,Gangrene,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007851,Orphanet,889,ORPHA:889,14,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007854,Orphanet,70476,ORPHA:70476,10,HP:0000481,Abnormal cornea morphology,Very frequent (99-80%),TAS,,,,[PMID:10857837],y,y +GARD:0007854,Orphanet,70476,ORPHA:70476,10,HP:0000502,Abnormal conjunctiva morphology,Very frequent (99-80%),TAS,,,,[PMID:10857837],y,y +GARD:0007854,Orphanet,70476,ORPHA:70476,10,HP:0000591,Abnormal sclera morphology,Very frequent (99-80%),TAS,,,,[PMID:10857837],y,y +GARD:0007854,Orphanet,70476,ORPHA:70476,10,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,[PMID:10857837],y,y +GARD:0007854,Orphanet,70476,ORPHA:70476,10,HP:0000632,Lacrimation abnormality,Very frequent (99-80%),TAS,,,,[PMID:10857837],y,y +GARD:0007854,Orphanet,70476,ORPHA:70476,10,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,[PMID:10857837],y,y +GARD:0007854,Orphanet,70476,ORPHA:70476,10,HP:0011496,Corneal neovascularization,Very frequent (99-80%),TAS,,,,[PMID:10857837],y,y +GARD:0007854,Orphanet,70476,ORPHA:70476,10,HP:0011859,Punctate keratitis,Very frequent (99-80%),TAS,,,,[PMID:10857837],y,y +GARD:0007854,Orphanet,70476,ORPHA:70476,10,HP:0012393,Allergy,Very frequent (99-80%),TAS,,,,[PMID:10857837],y,y +GARD:0007854,Orphanet,70476,ORPHA:70476,10,HP:0100699,Scarring,Frequent (79-30%),TAS,,,,[PMID:10857837],y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0000541,Retinal detachment,Very rare (<4-1%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0001085,Papilledema,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0001095,Hypertensive retinopathy,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0001658,Myocardial infarction,Very rare (<4-1%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0001737,Pancreatic cysts,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0001901,Polycythemia,Very rare (<4-1%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0002516,Increased intracranial pressure,Very rare (<4-1%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0002668,Paraganglioma,Very rare (<4-1%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0002894,Neoplasm of the pancreas,Very rare (<4-1%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0003334,Elevated circulating catecholamine level,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0003484,Upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0005162,Abnormal left ventricular function,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0005584,Renal cell carcinoma,Frequent (79-30%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0006748,Adrenal pheochromocytoma,Frequent (79-30%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0006880,Cerebellar hemangioblastoma,Frequent (79-30%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0008261,Pancreatic islet cell adenoma,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0009711,Retinal capillary hemangioma,Frequent (79-30%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0009715,Papillary cystadenoma of the epididymis,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0009763,Limb pain,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0011976,Elevated urinary catecholamines,Frequent (79-30%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0012819,Myocarditis,Very rare (<4-1%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0030393,Endolymphatic sac tumor,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0030405,Pancreatic endocrine tumor,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0030424,Epididymal cyst,Very rare (<4-1%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007855,Orphanet,892,ORPHA:892,41,HP:0040049,Macular edema,Occasional (29-5%),TAS,,,,"[PMID:25834951, PMID:26279462, PMID:30578515]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0001298,Encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0001876,Pancytopenia,Very frequent (99-80%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0002152,Hyperproteinemia,Occasional (29-5%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0003281,Increased circulating ferritin concentration,Frequent (79-30%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0005521,Disseminated intravascular coagulation,Frequent (79-30%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0011900,Hypofibrinogenemia,Frequent (79-30%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0012156,Hemophagocytosis,Obligate (100%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0012229,CSF pleocytosis,Occasional (29-5%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0012647,Abnormal inflammatory response,Very frequent (99-80%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0020101,Invasive fungal infection,Occasional (29-5%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0025540,Abnormal T cell subset distribution,Very frequent (99-80%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0030891,Periventricular white matter hyperintensities,Occasional (29-5%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0031179,Nuchal rigidity,Occasional (29-5%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0031406,Abnormal cytokine signaling,Very frequent (99-80%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0031691,Severe viral infection,Very frequent (99-80%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0031692,Severe cytomegalovirus infection,Occasional (29-5%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0031700,Invasive parasitic infection,Very rare (<4-1%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0032169,Severe infection,Very frequent (99-80%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0032204,Chronic active Epstein-Barr virus infection,Frequent (79-30%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0032256,Histoplasmosis,Very rare (<4-1%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0032260,Opportunistic bacterial infection,Occasional (29-5%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007857,Orphanet,158048,ORPHA:158048,35,HP:0040089,Abnormal natural killer cell count,Frequent (79-30%),TAS,,,,"[PMID:31339233, PMID:32560584]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0000311,Round face,Frequent (79-30%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0000818,Abnormality of the endocrine system,Excluded (0%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0002901,Hypocalcemia,Excluded (0%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0002905,Hyperphosphatemia,Excluded (0%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0003165,Elevated circulating parathyroid hormone level,Excluded (0%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0004180,Short distal phalanx of the 3rd finger,Occasional (29-5%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0009237,Short 5th finger,Frequent (79-30%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0009650,Short distal phalanx of the thumb,Occasional (29-5%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0010044,Short 4th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0010047,Short 5th metacarpal,Frequent (79-30%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0010743,Short metatarsal,Frequent (79-30%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0011986,Ectopic ossification,Frequent (79-30%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007860,Orphanet,79445,ORPHA:79445,19,HP:0025027,Osteoma cutis,Occasional (29-5%),TAS,,,,"[PMID:24651309, PMID:25484027, PMID:27995443, PMID:29072892, PMID:30809832]",y,y +GARD:0007862,Orphanet,3437,ORPHA:3437,14,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007862,Orphanet,3437,ORPHA:3437,14,HP:0000499,Abnormal eyelash morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007862,Orphanet,3437,ORPHA:3437,14,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007862,Orphanet,3437,ORPHA:3437,14,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007862,Orphanet,3437,ORPHA:3437,14,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0007862,Orphanet,3437,ORPHA:3437,14,HP:0000534,Abnormal eyebrow morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007862,Orphanet,3437,ORPHA:3437,14,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007862,Orphanet,3437,ORPHA:3437,14,HP:0001045,Vitiligo,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007862,Orphanet,3437,ORPHA:3437,14,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007862,Orphanet,3437,ORPHA:3437,14,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007862,Orphanet,3437,ORPHA:3437,14,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007862,Orphanet,3437,ORPHA:3437,14,HP:0002290,Poliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007862,Orphanet,3437,ORPHA:3437,14,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0007862,Orphanet,3437,ORPHA:3437,14,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000098,Tall stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000364,Hearing abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000492,Abnormal eyelid morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000512,Abnormal electroretinogram,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000818,Abnormality of the endocrine system,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0001012,Multiple lipomas,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0001100,Heterochromia iridis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0001480,Freckling,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0001909,Leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0002315,Headache,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0002666,Pheochromocytoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0002858,Meningioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0002970,Genu varum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0003100,Slender long bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0003272,Abnormal hip bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0005506,Chronic myelogenous leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0007378,Neoplasm of the gastrointestinal tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0007565,Multiple cafe-au-lait spots,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0008069,Neoplasm of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0009592,Astrocytoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0009732,Plexiform neurofibroma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0009735,Spinal neurofibromas,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0009737,Lisch nodules,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0010786,Urinary tract neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0010935,Abnormality of the upper urinary tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0011362,Abnormal hair quantity,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0100242,Sarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007866,Orphanet,636,ORPHA:636,69,HP:0100545,Arterial stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007867,Orphanet,903,ORPHA:903,6,HP:0001633,Abnormal mitral valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007867,Orphanet,903,ORPHA:903,6,HP:0001872,Abnormality of thrombocytes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007867,Orphanet,903,ORPHA:903,6,HP:0001928,Abnormality of coagulation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007867,Orphanet,903,ORPHA:903,6,HP:0004097,Deviation of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0007867,Orphanet,903,ORPHA:903,6,HP:0005293,Venous insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0007867,Orphanet,903,ORPHA:903,6,HP:0011869,Abnormal platelet function,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0000225,Gingival bleeding,Frequent (79-30%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0000573,Retinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0001025,Urticaria,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0001874,Abnormality of neutrophils,Frequent (79-30%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0001897,Normocytic anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0001909,Leukemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002113,Pulmonary infiltrates,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002665,Lymphoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0003565,Elevated erythrocyte sedimentation rate,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0005508,Monoclonal immunoglobulin M proteinemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0008046,Abnormal retinal vascular morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0010841,Multifocal epileptiform discharges,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0100539,Periorbital edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0100724,Hypercoagulability,Frequent (79-30%),TAS,,,,,y,y +GARD:0007872,Orphanet,33226,ORPHA:33226,45,HP:0100778,Cryoglobulinemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0001281,Tetany,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0002028,Chronic diarrhea,Frequent (79-30%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0002593,Intestinal lymphangiectasia,Very frequent (99-80%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0002720,Decreased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0002850,Decreased circulating total IgM,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0002917,Hypomagnesemia,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0003075,Hypoproteinemia,Frequent (79-30%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0004315,Decreased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0005387,Combined immunodeficiency,Very frequent (99-80%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0007430,Generalized edema,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0011472,Abnormality of small intestinal villus morphology,Frequent (79-30%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0012719,Functional abnormality of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0025624,Reduced proportion of CD4+ effector memory T cells,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0030995,Peritoneal effusion,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0031686,Increased stool alpha1-antitrypsin concentration,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0031690,Opportunistic infection,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0032160,Cryptococcal meningitis,Very rare (<4-1%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0032215,Disseminated cutaneous warts,Very rare (<4-1%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0045080,Decreased proportion of CD3-positive T cells,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0100508,Abnormality of vitamin metabolism,Frequent (79-30%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0100512,Low levels of vitamin D,Occasional (29-5%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007873,Orphanet,90362,ORPHA:90362,35,HP:0100766,Abnormal lymphatic vessel morphology,Very frequent (99-80%),TAS,,,,"[PMID:30381277, PMID:30762910, PMID:32463559, PMID:33505146]",y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0001890,Autoimmune hemolytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0002875,Exertional dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0005523,Lymphoproliferative disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0005550,Chronic lymphatic leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0012086,Abnormal urinary color,Occasional (29-5%),TAS,,,,,y,y +GARD:0007876,Orphanet,90033,ORPHA:90033,16,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0000311,Round face,Frequent (79-30%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001176,Large hands,Frequent (79-30%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001609,Hoarse voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001769,Broad foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001800,Hypoplastic toenails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001814,Deep-set nails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001816,Thin nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0002002,Deep philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0010300,Abnormally low-pitched voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007878,Orphanet,3447,ORPHA:3447,42,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0012490,Panniculitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007879,Orphanet,33577,ORPHA:33577,15,HP:0100533,Inflammatory abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000024,Prostatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000071,Ureteral stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000163,Abnormal oral cavity morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000246,Sinusitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000366,Abnormality of the nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000388,Otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000389,Chronic otitis media,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000421,Epistaxis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000790,Hematuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002102,Pleuritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002105,Hemoptysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002113,Pulmonary infiltrates,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002206,Pulmonary fibrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002315,Headache,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002633,Vasculitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002637,Cerebral ischemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002955,Granulomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0006510,Chronic pulmonary obstruction,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0006535,Recurrent intrapulmonary hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0012649,Increased inflammatory response,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0100533,Inflammatory abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0100539,Periorbital edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0100820,Glomerulopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0200034,Papule,Frequent (79-30%),TAS,,,,,y,y +GARD:0007880,Orphanet,900,ORPHA:900,66,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0000554,Uveitis,Very rare (<4-1%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0000573,Retinal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0001085,Papilledema,Very rare (<4-1%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0001701,Pericarditis,Very rare (<4-1%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0002011,Morphological central nervous system abnormality,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0002152,Hyperproteinemia,Frequent (79-30%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0003201,Rhabdomyolysis,Very rare (<4-1%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0008150,Elevated serum transaminases during infections,Frequent (79-30%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0011705,First degree atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0011896,Subconjunctival hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0012424,Chorioretinitis,Very rare (<4-1%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0025439,Pharyngitis,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0030497,Macular cotton wool spot,Very rare (<4-1%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0030953,Conjunctival hyperemia,Frequent (79-30%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0031197,Cellular urinary casts,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0040223,Pulmonary hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007881,Orphanet,509,ORPHA:509,40,HP:0100653,Optic neuritis,Very rare (<4-1%),TAS,,,,"[PMID:14652202, PMID:31583866]",y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0000035,Abnormal testis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0000144,Decreased fertility,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0000765,Abnormal thorax morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0000855,Insulin resistance,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0000869,Secondary amenorrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0000934,Chondrocalcinosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0001533,Slender build,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0001658,Myocardial infarction,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0001838,Rocker bottom foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0002211,White forelock,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0002621,Atherosclerosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0002672,Gastrointestinal carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0002858,Meningioma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0002860,Squamous cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0002890,Thyroid carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0003002,Breast carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0003777,Pili torti,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0004415,Pulmonary artery stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0005978,Type II diabetes mellitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0007618,Subcutaneous calcification,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0008065,Aplasia/Hypoplasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0009125,Lipodystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0009726,Renal neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0010468,Aplasia/Hypoplasia of the testes,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0010721,Abnormal hair whorl,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0011001,Increased bone mineral density,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0012056,Cutaneous melanoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0012060,Acral lentiginous melanoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0100242,Sarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0100526,Neoplasm of the lung,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0100615,Ovarian neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0100649,Neoplasm of the oral cavity,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0100659,Abnormal cerebral vascular morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0100679,Lack of skin elasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0100833,Neoplasm of the small intestine,Occasional (29-5%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0007885,Orphanet,902,ORPHA:902,59,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0007887,Orphanet,3451,ORPHA:3451,6,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,[PMID:28846304],y,y +GARD:0007887,Orphanet,3451,ORPHA:3451,6,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,[PMID:28846304],y,y +GARD:0007887,Orphanet,3451,ORPHA:3451,6,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,[PMID:28846304],y,y +GARD:0007887,Orphanet,3451,ORPHA:3451,6,HP:0002521,Hypsarrhythmia,Very frequent (99-80%),TAS,,,,[PMID:28846304],y,y +GARD:0007887,Orphanet,3451,ORPHA:3451,6,HP:0011121,Abnormality of skin morphology,Frequent (79-30%),TAS,,,,[PMID:28846304],y,y +GARD:0007887,Orphanet,3451,ORPHA:3451,6,HP:0012469,Infantile spasms,Very frequent (99-80%),TAS,,,,[PMID:28846304],y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0000554,Uveitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0000716,Depression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0000855,Insulin resistance,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002102,Pleuritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0007440,Generalized hyperpigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0012735,Cough,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0100614,Myositis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0100639,Erectile dysfunction,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0100721,Mediastinal lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0007889,Orphanet,3452,ORPHA:3452,47,HP:0100829,Galactorrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007890,Orphanet,3454,ORPHA:3454,14,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007890,Orphanet,3454,ORPHA:3454,14,HP:0000496,Abnormality of eye movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007890,Orphanet,3454,ORPHA:3454,14,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007890,Orphanet,3454,ORPHA:3454,14,HP:0000657,Oculomotor apraxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007890,Orphanet,3454,ORPHA:3454,14,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0007890,Orphanet,3454,ORPHA:3454,14,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007890,Orphanet,3454,ORPHA:3454,14,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007890,Orphanet,3454,ORPHA:3454,14,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007890,Orphanet,3454,ORPHA:3454,14,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007890,Orphanet,3454,ORPHA:3454,14,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007890,Orphanet,3454,ORPHA:3454,14,HP:0003693,Distal amyotrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007890,Orphanet,3454,ORPHA:3454,14,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007890,Orphanet,3454,ORPHA:3454,14,HP:0005745,Congenital foot contractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007890,Orphanet,3454,ORPHA:3454,14,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000014,Abnormality of the bladder,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000015,Bladder diverticulum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000025,Functional abnormality of male internal genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000044,Hypogonadotropic hypogonadism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000075,Renal duplication,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000089,Renal hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000125,Pelvic kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000307,Pointed chin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000464,Abnormality of the neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000485,Megalocornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000627,Posterior embryotoxon,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000632,Lacrimation abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000635,Blue irides,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000689,Dental malocclusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000716,Depression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000717,Autism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000739,Anxiety,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0000960,Sacral dimple,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001052,Nevus flammeus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001136,Retinal arteriolar tortuosity,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001297,Stroke,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001310,Dysmetria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001337,Tremor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001361,Nystagmus-induced head nodding,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001531,Failure to thrive in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001582,Redundant skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001609,Hoarse voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001626,Abnormality of the cardiovascular system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001634,Mitral valve prolapse,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001642,Pulmonic stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001653,Mitral regurgitation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001822,Hallux valgus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0001969,Abnormal tubulointerstitial morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002035,Rectal prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002071,Abnormality of extrapyramidal motor function,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002141,Gait imbalance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002150,Hypercalciuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002183,Phonophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002253,Colonic diverticula,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002623,Overriding aorta,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002637,Cerebral ischemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002974,Radioulnar synostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0003028,Abnormality of the ankles,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0003072,Hypercalcemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0003119,Abnormal circulating lipid concentration,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0004295,Abnormal gastric mucosa morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0004305,Involuntary movements,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0004306,Abnormal endocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0004381,Supravalvular aortic stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0004398,Peptic ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0004428,Elfin facies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0004969,Peripheral pulmonary artery stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0005113,Aortic arch aneurysm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0005344,Abnormal carotid artery morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0007372,Atrophy/Degeneration involving the corticospinal tracts,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0007477,Abnormal dermatoglyphics,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0007495,Prematurely aged appearance,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0007720,Flat cornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0008053,Aplasia/Hypoplasia of the iris,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0008499,High hypermetropia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0008661,Urethral stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0010526,Dysgraphia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0010662,Abnormality of the diencephalon,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0010669,Hypoplasia of the zygomatic bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0010780,Hyperacusis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0010807,Open bite,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0010880,Increased nuchal translucency,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0011001,Increased bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0012433,Abnormal social behavior,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0012639,Abnormal nervous system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0100025,Overfriendliness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0100240,Synostosis of joints,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0100539,Periorbital edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0100545,Arterial stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0100613,Death in early adulthood,Occasional (29-5%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0100659,Abnormal cerebral vascular morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0100785,Insomnia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0100817,Renovascular hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0007891,Orphanet,904,ORPHA:904,187,HP:0200021,Down-sloping shoulders,Frequent (79-30%),TAS,,,,,y,y +GARD:0007892,Orphanet,654,ORPHA:654,11,HP:0000526,Aniridia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007892,Orphanet,654,ORPHA:654,11,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0007892,Orphanet,654,ORPHA:654,11,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0007892,Orphanet,654,ORPHA:654,11,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0007892,Orphanet,654,ORPHA:654,11,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0007892,Orphanet,654,ORPHA:654,11,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007892,Orphanet,654,ORPHA:654,11,HP:0002664,Neoplasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007892,Orphanet,654,ORPHA:654,11,HP:0002667,Nephroblastoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007892,Orphanet,654,ORPHA:654,11,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007892,Orphanet,654,ORPHA:654,11,HP:0002896,Neoplasm of the liver,Occasional (29-5%),TAS,,,,,y,y +GARD:0007892,Orphanet,654,ORPHA:654,11,HP:0100526,Neoplasm of the lung,Occasional (29-5%),TAS,,,,,y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0000140,Abnormality of the menstrual cycle,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0000716,Depression,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0000718,Aggressive behavior,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0001155,Abnormality of the hand,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0001394,Cirrhosis,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0001397,Hepatic steatosis,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0002312,Clumsiness,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0002756,Pathologic fracture,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0003418,Back pain,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0004324,Increased body weight,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0006554,Acute hepatic failure,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0008994,Proximal muscle weakness in lower limbs,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0012115,Hepatitis,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0030214,Hypersexuality,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0200032,Kayser-Fleischer ring,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007893,Orphanet,905,ORPHA:905,33,HP:0200119,Acute hepatitis,Very frequent (99-80%),TAS,,,,[PMID:24209444],y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000140,Abnormality of the menstrual cycle,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000246,Sinusitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000388,Otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000389,Chronic otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000491,Keratitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000498,Blepharitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000778,Hypoplasia of the thymus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000967,Petechiae,Frequent (79-30%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0000979,Purpura,Frequent (79-30%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0001025,Urticaria,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0001878,Hemolytic anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0001879,Abnormal eosinophil morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0001888,Lymphopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0001935,Microcytic anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0002028,Chronic diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0002037,Inflammation of the large intestine,Frequent (79-30%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0002248,Hematemesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0002488,Acute leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0002573,Hematochezia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0003010,Prolonged bleeding time,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0005558,Chronic leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0006510,Chronic pulmonary obstruction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0006535,Recurrent intrapulmonary hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0007420,Spontaneous hematomas,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0011029,Internal hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0011869,Abnormal platelet function,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0011875,Abnormal platelet morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0100774,Hyperostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0100820,Glomerulopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007895,Orphanet,906,ORPHA:906,57,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000078,Abnormality of the genital system,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000153,Abnormality of the mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000159,Abnormal lip morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000204,Cleft upper lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000288,Abnormality of the philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000389,Chronic otitis media,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000485,Megalocornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000647,Sclerocornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000902,Rib fusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000925,Abnormality of the vertebral column,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0000960,Sacral dimple,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001028,Hemangioma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001171,Split hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001177,Preaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001362,Calvarial skull defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001519,Disproportionate tall stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001558,Decreased fetal movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001654,Abnormal heart valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0002144,Tethered cord,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0002715,Abnormality of the immune system,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0003363,Abdominal situs inversus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0003468,Abnormal vertebral morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0005264,Abnormality of the gallbladder,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0006655,Rib segmentation abnormalities,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0006703,Aplasia/Hypoplasia of the lungs,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0006709,Aplasia/Hypoplasia of the nipples,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0007385,Aplasia cutis congenita of scalp,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0008830,Hypoplastic pubic rami,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0009778,Short thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0009890,High anterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0010109,Short hallux,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,,y,y +GARD:0007896,Orphanet,280,ORPHA:280,85,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000010,Recurrent urinary tract infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000026,Male hypogonadism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000079,Abnormality of the urinary system,Frequent (79-30%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000819,Diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0000873,Diabetes insipidus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0001959,Polydipsia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0002592,Gastric ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0002871,Central apnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0100016,Abnormality of mesentery morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007898,Orphanet,3463,ORPHA:3463,39,HP:0100518,Dysuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0000846,Adrenal insufficiency,Occasional (29-5%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0001399,Hepatic failure,Very frequent (99-80%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0001945,Fever,Occasional (29-5%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0002040,Esophageal varix,Occasional (29-5%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0002570,Steatorrhea,Very frequent (99-80%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0004326,Cachexia,Frequent (79-30%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0004333,Bone-marrow foam cells,Occasional (29-5%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0004395,Malnutrition,Frequent (79-30%),TAS,,,,[PMID:26225414],y,y +GARD:0007899,Orphanet,75233,ORPHA:75233,17,HP:0010512,Adrenal calcification,Very frequent (99-80%),TAS,,,,[PMID:26225414],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0001342,Cerebral hemorrhage,Occasional (29-5%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0002138,Subarachnoid hemorrhage,Occasional (29-5%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0002315,Headache,Frequent (79-30%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0002617,Vascular dilatation,Very frequent (99-80%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0007730,Iris hypopigmentation,Occasional (29-5%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0007797,Retinal vascular malformation,Very frequent (99-80%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0011276,Vascular skin abnormality,Very frequent (99-80%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0100021,Cerebral palsy,Frequent (79-30%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0100026,Arteriovenous malformation,Very frequent (99-80%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0100659,Abnormal cerebral vascular morphology,Very frequent (99-80%),TAS,,,,[PMID:17235577],y,y +GARD:0007900,Orphanet,53719,ORPHA:53719,27,HP:0100784,Peripheral arteriovenous fistula,Very frequent (99-80%),TAS,,,,[PMID:17235577],y,y +GARD:0007904,Orphanet,461,ORPHA:461,9,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007904,Orphanet,461,ORPHA:461,9,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0007904,Orphanet,461,ORPHA:461,9,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007904,Orphanet,461,ORPHA:461,9,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007904,Orphanet,461,ORPHA:461,9,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007904,Orphanet,461,ORPHA:461,9,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007904,Orphanet,461,ORPHA:461,9,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0007904,Orphanet,461,ORPHA:461,9,HP:0007759,Opacification of the corneal stroma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007904,Orphanet,461,ORPHA:461,9,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000491,Keratitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000498,Blepharitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000524,Conjunctival telangiectasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000621,Entropion,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000656,Ectropion,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0000995,Melanocytic nevus,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0001009,Telangiectasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0001029,Poikiloderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0001034,Hypermelanotic macule,Frequent (79-30%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0001053,Hypopigmented skin patches,Frequent (79-30%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0001059,Pterygium,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0001480,Freckling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0002861,Melanoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0003355,Aminoaciduria,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0004334,Dermal atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0004493,Craniofacial hyperostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0006887,"Intellectual disability, progressive",Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0007759,Opacification of the corneal stroma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0009755,Ankyloblepharon,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0010649,Flat nasal alae,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0012733,Macule,Frequent (79-30%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0012740,Papilloma,Frequent (79-30%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0100012,Neoplasm of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007910,Orphanet,910,ORPHA:910,59,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0000988,Skin rash,Very rare (<4-1%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0001662,Bradycardia,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0001735,Acute pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0001919,Acute kidney injury,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0002018,Nausea,Very frequent (99-80%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0002133,Status epilepticus,Very rare (<4-1%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0002248,Hematemesis,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0002516,Increased intracranial pressure,Very rare (<4-1%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0002904,Hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0003225,Reduced coagulation factor V activity,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0003259,Elevated circulating creatinine concentration,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0003419,Low back pain,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0003496,Increased circulating IgM level,Very frequent (99-80%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0005115,Supraventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0006277,Pancreatic hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0008151,Prolonged prothrombin time,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0011029,Internal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0011897,Neutrophilia,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0011900,Hypofibrinogenemia,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0012664,Reduced ejection fraction,Very rare (<4-1%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0020071,Viremia,Very frequent (99-80%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0025143,Chills,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0030005,Capillary leak,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0030139,Excessive bleeding after a venipuncture,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0030783,Increased circulating interleukin 6 concentration,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0031273,Shock,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0031690,Opportunistic infection,Very rare (<4-1%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0031956,Elevated circulating aspartate aminotransferase concentration,Frequent (79-30%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0031964,Elevated circulating alanine aminotransferase concentration,Very frequent (99-80%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0032066,Decreased serum bicarbonate concentration,Occasional (29-5%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007914,Orphanet,99829,ORPHA:99829,47,HP:0100519,Anuria,Very rare (<4-1%),TAS,,,,"[PMID:31104909, PMID:31150098, PMID:31340247]",y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000157,Abnormality of the tongue,Occasional (29-5%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000260,Wide anterior fontanel,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000474,Thickened nuchal skin fold,Occasional (29-5%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000532,Abnormal chorioretinal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000627,Posterior embryotoxon,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0001088,Brushfield spots,Occasional (29-5%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0001399,Hepatic failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0001522,Death in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0001928,Abnormality of coagulation,Occasional (29-5%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0002021,Pyloric stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0002126,Polymicrogyria,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0005469,Flat occiput,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0006829,Severe muscular hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0008167,Very long chain fatty acid accumulation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0008207,Primary adrenal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0008572,External ear malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0008665,Clitoral hypertrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0009891,Underdeveloped supraorbital ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0010655,Epiphyseal stippling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0012736,Profound global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007917,Orphanet,912,ORPHA:912,55,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0000843,Hyperparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0000845,Elevated circulating growth hormone concentration,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0000854,Thyroid adenoma,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0001012,Multiple lipomas,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0002018,Nausea,Very frequent (99-80%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0002044,Zollinger-Ellison syndrome,Obligate (100%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0002573,Hematochezia,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0002574,Episodic abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0002588,Duodenal ulcer,Very frequent (99-80%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0002893,Pituitary adenoma,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0003118,Increased circulating cortisol level,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0003165,Elevated circulating parathyroid hormone level,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0004398,Peptic ulcer,Very frequent (99-80%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0006744,Adrenocortical carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0006767,Pituitary prolactin cell adenoma,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0008208,Parathyroid hyperplasia,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0008256,Adrenocortical adenoma,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0008291,Pituitary corticotropic cell adenoma,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0011760,Pituitary growth hormone cell adenoma,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0011761,Pituitary null cell adenoma,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0012030,Increased urinary cortisol level,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0012032,Lipoma,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0012334,Extrahepatic cholestasis,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0030404,Glucagonoma,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0030688,Increased glucagon level,Occasional (29-5%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0100633,Esophagitis,Very frequent (99-80%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0007918,Orphanet,913,ORPHA:913,34,HP:0100634,Neuroendocrine neoplasm,Obligate (100%),TAS,,,,"[PMID:18270260, PMID:19059523, PMID:19836486, PMID:19854317, PMID:21315717, PMID:21443889, PMID:22052063, PMID:23582916, PMID:23645327]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0000242,Parietal bossing,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0000260,Wide anterior fontanel,Occasional (29-5%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0001377,Limited elbow extension,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0002938,Lumbar hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0002979,Bowing of the legs,Very frequent (99-80%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0003180,Flat acetabular roof,Occasional (29-5%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0003194,Short nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0003375,Narrow greater sciatic notch,Occasional (29-5%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0003416,Spinal canal stenosis,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0003498,Disproportionate short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0004060,Trident hand,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0005257,Thoracic hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0005619,Thoracolumbar kyphosis,Very frequent (99-80%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0005819,Short middle phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0008445,Cervical spinal canal stenosis,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0008905,Rhizomelia,Occasional (29-5%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0009826,Limb undergrowth,Very frequent (99-80%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0010241,Short proximal phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0010536,Central sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0011452,Functional abnormality of the middle ear,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0011867,Abnormal iliac wing morphology,Occasional (29-5%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0012418,Hypoxemia,Occasional (29-5%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0045086,Knee joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0045087,Hip joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008173,Orphanet,15,ORPHA:15,39,HP:0430026,Abnormality of the shape of the midface,Frequent (79-30%),TAS,,,,"[PMID:20301331, PMID:29185944, PMID:30606190, PMID:31497119, PMID:31727132]",y,y +GARD:0008174,Orphanet,1547,ORPHA:1547,7,HP:0000048,Bifid scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0008174,Orphanet,1547,ORPHA:1547,7,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008174,Orphanet,1547,ORPHA:1547,7,HP:0001480,Freckling,Frequent (79-30%),TAS,,,,,y,y +GARD:0008174,Orphanet,1547,ORPHA:1547,7,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,,y,y +GARD:0008174,Orphanet,1547,ORPHA:1547,7,HP:0005872,Brachytelomesophalangy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008174,Orphanet,1547,ORPHA:1547,7,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008174,Orphanet,1547,ORPHA:1547,7,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0003019,Abnormality of the wrist,Occasional (29-5%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0003042,Elbow dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0003070,Elbow ankylosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0005880,Metacarpophalangeal synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0008368,Tarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0040019,Finger clinodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0100264,Proximal symphalangism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008182,Orphanet,3250,ORPHA:3250,15,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0000541,Retinal detachment,Very rare (<4-1%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0000741,Apathy,Very rare (<4-1%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0000925,Abnormality of the vertebral column,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0000929,Abnormal skull morphology,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0000933,Posterior fossa cyst at the fourth ventricle,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0001094,Iridocyclitis,Very rare (<4-1%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0001260,Dysarthria,Very rare (<4-1%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0001268,Mental deterioration,Very rare (<4-1%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0001289,Confusion,Very rare (<4-1%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0001637,Abnormal myocardium morphology,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0002383,Infectious encephalitis,Very rare (<4-1%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0002493,Upper motor neuron dysfunction,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0004420,Arterial thrombosis,Very rare (<4-1%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0007185,Loss of consciousness,Very rare (<4-1%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0009745,Spinal arachnoid cyst,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0010576,Intracranial cystic lesion,Frequent (79-30%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0010651,Abnormal meningeal morphology,Frequent (79-30%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0011805,Abnormal skeletal muscle morphology,Frequent (79-30%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0012372,Abnormal eye morphology,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0012424,Chorioretinitis,Very rare (<4-1%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0012703,Abnormal subarachnoid space morphology,Frequent (79-30%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0025163,Abnormality of optic chiasm morphology,Very rare (<4-1%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0025258,Stiff neck,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0100249,Calcification of muscles,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0100561,Spinal cord lesion,Occasional (29-5%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0100702,Arachnoid cyst,Frequent (79-30%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008194,Orphanet,1560,ORPHA:1560,48,HP:0200149,CSF lymphocytic pleiocytosis,Frequent (79-30%),TAS,,,,"[PMID:28449318, PMID:7846114]",y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000069,Abnormality of the ureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000204,Cleft upper lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000679,Taurodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000680,Delayed eruption of primary teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000733,Motor stereotypy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000739,Anxiety,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001609,Hoarse voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0003124,Hypercholesterolemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0005607,Abnormal tracheobronchial morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0007016,Corticospinal tract hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0010780,Hyperacusis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0010804,Tented upper lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0100716,Self-injurious behavior,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008197,Orphanet,819,ORPHA:819,75,HP:0100729,Large face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0000944,Abnormality of the metaphysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0000969,Edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0001019,Erythroderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0001880,Eosinophilia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0002028,Chronic diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0004332,Abnormal lymphocyte morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0004430,Severe combined immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0007549,Desquamation of skin soon after birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0100646,Thyroiditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008198,Orphanet,39041,ORPHA:39041,28,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0000790,Hematuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0000969,Edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0000979,Purpura,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0001025,Urticaria,Occasional (29-5%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0002383,Infectious encephalitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0002633,Vasculitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0005244,Gastrointestinal infarctions,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0011276,Vascular skin abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0012733,Macule,Occasional (29-5%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0100534,Episcleritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0100665,Angioedema,Occasional (29-5%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0100796,Orchitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0100820,Glomerulopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0200039,Pustule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008204,Orphanet,761,ORPHA:761,34,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0008207,Orphanet,251912,ORPHA:251912,13,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,"[PMID:10668895, PMID:19329860, PMID:20136388, PMID:6986979]",y,y +GARD:0008207,Orphanet,251912,ORPHA:251912,13,HP:0000364,Hearing abnormality,Occasional (29-5%),TAS,,,,"[PMID:10668895, PMID:19329860, PMID:20136388, PMID:6986979]",y,y +GARD:0008207,Orphanet,251912,ORPHA:251912,13,HP:0000492,Abnormal eyelid morphology,Frequent (79-30%),TAS,,,,"[PMID:10668895, PMID:19329860, PMID:20136388, PMID:6986979]",y,y +GARD:0008207,Orphanet,251912,ORPHA:251912,13,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:10668895, PMID:19329860, PMID:20136388, PMID:6986979]",y,y +GARD:0008207,Orphanet,251912,ORPHA:251912,13,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,"[PMID:10668895, PMID:19329860, PMID:20136388, PMID:6986979]",y,y +GARD:0008207,Orphanet,251912,ORPHA:251912,13,HP:0002131,Episodic ataxia,Frequent (79-30%),TAS,,,,"[PMID:10668895, PMID:19329860, PMID:20136388, PMID:6986979]",y,y +GARD:0008207,Orphanet,251912,ORPHA:251912,13,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:10668895, PMID:19329860, PMID:20136388, PMID:6986979]",y,y +GARD:0008207,Orphanet,251912,ORPHA:251912,13,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,"[PMID:10668895, PMID:19329860, PMID:20136388, PMID:6986979]",y,y +GARD:0008207,Orphanet,251912,ORPHA:251912,13,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:10668895, PMID:19329860, PMID:20136388, PMID:6986979]",y,y +GARD:0008207,Orphanet,251912,ORPHA:251912,13,HP:0002516,Increased intracranial pressure,Very frequent (99-80%),TAS,,,,"[PMID:10668895, PMID:19329860, PMID:20136388, PMID:6986979]",y,y +GARD:0008207,Orphanet,251912,ORPHA:251912,13,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:10668895, PMID:19329860, PMID:20136388, PMID:6986979]",y,y +GARD:0008207,Orphanet,251912,ORPHA:251912,13,HP:0030531,Altitudinal visual field defect,Frequent (79-30%),TAS,,,,"[PMID:10668895, PMID:19329860, PMID:20136388, PMID:6986979]",y,y +GARD:0008207,Orphanet,251912,ORPHA:251912,13,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:10668895, PMID:19329860, PMID:20136388, PMID:6986979]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0001312,Giant somatosensory evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0002100,Recurrent aspiration pneumonia,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0002133,Status epilepticus,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0002367,Visual hallucinations,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0002521,Hypsarrhythmia,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0007270,Atypical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0007334,Bilateral tonic-clonic seizure with focal onset,Occasional (29-5%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0007537,Severe photosensitivity,Occasional (29-5%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0011165,Focal sensory seizure with visual features,Occasional (29-5%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0025357,Erratic myoclonus,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0031358,Vegetative state,Occasional (29-5%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0040288,Nasogastric tube feeding,Frequent (79-30%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008214,Orphanet,501,ORPHA:501,35,HP:0100318,Lafora bodies,Obligate (100%),TAS,,,,"[PMID:15781812, PMID:20301563, PMID:28800070, PMID:30143794, PMID:30638256]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0000011,Neurogenic bladder,Frequent (79-30%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0002321,Vertigo,Very frequent (99-80%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0003484,Upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0006880,Cerebellar hemangioblastoma,Very frequent (99-80%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0009711,Retinal capillary hemangioma,Very frequent (99-80%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0009713,Spinal hemangioblastoma,Frequent (79-30%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0010576,Intracranial cystic lesion,Very frequent (99-80%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0010797,Hemangioblastoma,Obligate (100%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0012534,Dysesthesia,Frequent (79-30%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0030144,Hypoactive bowel sounds,Frequent (79-30%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0030915,Cerebellar edema,Very frequent (99-80%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008232,Orphanet,252054,ORPHA:252054,16,HP:0100661,Trigeminal neuralgia,Frequent (79-30%),TAS,,,,"[PMID:10658709, PMID:12946211, PMID:25634201, PMID:361212, PMID:4926822]",y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0000657,Oculomotor apraxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0000716,Depression,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001103,Abnormal macular morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001637,Abnormal myocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001697,Abnormal pericardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0003330,Abnormal bone structure,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0004380,Aortic valve calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0004382,Mitral valve calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0010702,Increased circulating antibody level,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0010729,Cherry red spot of the macula,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0010885,Avascular necrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0011001,Increased bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0011227,Elevated circulating C-reactive protein concentration,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008233,Orphanet,355,ORPHA:355,68,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0000246,Sinusitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0001367,Abnormal joint morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0001875,Neutropenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0002102,Pleuritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0004332,Abnormal lymphocyte morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0006532,Recurrent pneumonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0007400,Irregular hyperpigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0007440,Generalized hyperpigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0012384,Rhinitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0100534,Episcleritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0100769,Synovitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0100776,Recurrent pharyngitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008234,Orphanet,47612,ORPHA:47612,36,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008241,Orphanet,158029,ORPHA:158029,14,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,[PMID:25413372],y,y +GARD:0008241,Orphanet,158029,ORPHA:158029,14,HP:0000498,Blepharitis,Very frequent (99-80%),TAS,,,,[PMID:25413372],y,y +GARD:0008241,Orphanet,158029,ORPHA:158029,14,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,[PMID:25413372],y,y +GARD:0008241,Orphanet,158029,ORPHA:158029,14,HP:0000967,Petechiae,Very frequent (99-80%),TAS,,,,[PMID:25413372],y,y +GARD:0008241,Orphanet,158029,ORPHA:158029,14,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,[PMID:25413372],y,y +GARD:0008241,Orphanet,158029,ORPHA:158029,14,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,[PMID:25413372],y,y +GARD:0008241,Orphanet,158029,ORPHA:158029,14,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,[PMID:25413372],y,y +GARD:0008241,Orphanet,158029,ORPHA:158029,14,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,[PMID:25413372],y,y +GARD:0008241,Orphanet,158029,ORPHA:158029,14,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,[PMID:25413372],y,y +GARD:0008241,Orphanet,158029,ORPHA:158029,14,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,[PMID:25413372],y,y +GARD:0008241,Orphanet,158029,ORPHA:158029,14,HP:0001982,Sea-blue histiocytosis,Very frequent (99-80%),TAS,,,,[PMID:25413372],y,y +GARD:0008241,Orphanet,158029,ORPHA:158029,14,HP:0002113,Pulmonary infiltrates,Frequent (79-30%),TAS,,,,[PMID:25413372],y,y +GARD:0008241,Orphanet,158029,ORPHA:158029,14,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,[PMID:25413372],y,y +GARD:0008241,Orphanet,158029,ORPHA:158029,14,HP:0100721,Mediastinal lymphadenopathy,Very frequent (99-80%),TAS,,,,[PMID:25413372],y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0001875,Neutropenia,Very rare (<4-1%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0001876,Pancytopenia,Very rare (<4-1%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0001892,Abnormal bleeding,Very rare (<4-1%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0001894,Thrombocytosis,Very rare (<4-1%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0001895,Normochromic anemia,Frequent (79-30%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0001897,Normocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0001913,Granulocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0001931,Hypochromic anemia,Occasional (29-5%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0001974,Leukocytosis,Very rare (<4-1%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0004808,Acute myeloid leukemia,Very rare (<4-1%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0004828,Refractory anemia with ringed sideroblasts,Very frequent (99-80%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0005513,Increased megakaryocyte count,Very rare (<4-1%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0005528,Bone marrow hypocellularity,Very rare (<4-1%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0010972,Anemia of inadequate production,Very frequent (99-80%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0011447,Hyposegmentation of neutrophil nuclei,Occasional (29-5%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0012132,Erythroid hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0012136,Dysplastic granulopoesis,Occasional (29-5%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0012137,Abnormal number of granulocyte precursors,Occasional (29-5%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0012143,Abnormal megakaryocyte morphology,Occasional (29-5%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0031035,Chronic infection,Occasional (29-5%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008249,Orphanet,75564,ORPHA:75564,28,HP:0200143,Megaloblastic erythroid hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:10792275, PMID:1625471, PMID:30725758]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0000206,Glossitis,Very frequent (99-80%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0001598,Concave nail,Occasional (29-5%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0001891,Iron deficiency anemia,Obligate (100%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0002015,Dysphagia,Obligate (100%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0003388,Easy fatigability,Very frequent (99-80%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0004840,Hypochromic microcytic anemia,Obligate (100%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0010284,Intra-oral hyperpigmentation,Occasional (29-5%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0012343,Decreased circulating ferritin concentration,Obligate (100%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0012473,Tongue atrophy,Occasional (29-5%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0025062,Geophagia,Occasional (29-5%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0100594,Esophageal web,Obligate (100%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008259,Orphanet,54028,ORPHA:54028,16,HP:0100825,Cheilitis,Occasional (29-5%),TAS,,,,"[PMID:25878483, PMID:26620961, PMID:26944249]",y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0003712,Skeletal muscle hypertrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008270,Orphanet,2349,ORPHA:2349,15,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008275,Orphanet,50943,ORPHA:50943,3,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008275,Orphanet,50943,ORPHA:50943,3,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008275,Orphanet,50943,ORPHA:50943,3,HP:0200039,Pustule,Occasional (29-5%),TAS,,,,,y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0000017,Nocturia,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0000035,Abnormal testis morphology,Very rare (<4-1%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0000092,Renal tubular atrophy,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0000135,Hypogonadism,Very rare (<4-1%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0000798,Oligospermia,Very rare (<4-1%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0000967,Petechiae,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0001410,Decreased liver function,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0001970,Tubulointerstitial nephritis,Frequent (79-30%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0002733,Abnormality of the lymph nodes,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0003233,Decreased HDL cholesterol concentration,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0003251,Male infertility,Very rare (<4-1%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0003259,Elevated circulating creatinine concentration,Frequent (79-30%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0003565,Elevated erythrocyte sedimentation rate,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0005576,Tubulointerstitial fibrosis,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0008720,Primary testicular failure,Very rare (<4-1%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0011024,Abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0012213,Decreased glomerular filtration rate,Frequent (79-30%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0012591,Abnormal urinary electrolyte concentration,Frequent (79-30%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0031368,Intestinal perforation,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0031799,Decreased circulating apolipoprotein AI concentration,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0032613,Renal interstitial amyloid deposits,Very frequent (99-80%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008282,Orphanet,85450,ORPHA:85450,43,HP:0410281,Dyspepsia,Occasional (29-5%),TAS,,,,"[PMID:25852856, PMID:31395023, PMID:32841328]",y,y +GARD:0008309,Orphanet,988,ORPHA:988,6,HP:0002991,Abnormality of fibula morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008309,Orphanet,988,ORPHA:988,6,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008309,Orphanet,988,ORPHA:988,6,HP:0005048,Synostosis of carpal bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0008309,Orphanet,988,ORPHA:988,6,HP:0005772,Aplasia/Hypoplasia of the tibia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008309,Orphanet,988,ORPHA:988,6,HP:0006443,Patellar aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008309,Orphanet,988,ORPHA:988,6,HP:0009601,Aplasia/Hypoplasia of the thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000026,Male hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000029,Testicular atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000144,Decreased fertility,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000467,Neck muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000717,Autism,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000718,Aggressive behavior,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000802,Impotence,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000815,Hypergonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000824,Decreased response to growth hormone stimulation test,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000842,Hyperinsulinemia,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000855,Insulin resistance,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0000867,Secondary hyperparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001262,Excessive daytime somnolence,Very frequent (99-80%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001324,Muscle weakness,Obligate (100%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001488,Bilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001644,Dilated cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002234,Early balding,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002460,Distal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002494,Abnormal rapid eye movement sleep,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002527,Falls,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002540,Inability to walk,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002747,Respiratory insufficiency due to muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0002926,Abnormality of thyroid physiology,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0003003,Colon cancer,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0003124,Hypercholesterolemia,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0003477,Peripheral axonal neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0003547,Shoulder girdle muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0003693,Distal amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0003701,Proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0003722,Neck flexor weakness,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0003740,Myotonia with warm-up phenomenon,Very frequent (99-80%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0003749,Pelvic girdle muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0004389,Intestinal pseudo-obstruction,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0004755,Supraventricular tachycardia,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0005110,Atrial fibrillation,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0006677,Prolonged QRS complex,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0007010,Poor fine motor coordination,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0007787,Posterior subcapsular cataract,Very frequent (99-80%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0007941,Limited extraocular movements,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0008069,Neoplasm of the skin,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0008770,Obsessive-compulsive trait,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0009113,Diaphragmatic weakness,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0010794,Impaired visuospatial constructive cognition,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0010804,Tented upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0010952,Mild fetal ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0011999,Paranoia,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0012054,Choroidal melanoma,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0012114,Endometrial carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0012248,Prolonged PR interval,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0012899,Handgrip myotonia,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0012901,Myotonia of the jaw,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0012903,Myotonia of the upper limb,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0025169,Left ventricular systolic dysfunction,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0025318,Ovarian carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0030192,Fatigable weakness of bulbar muscles,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0030319,Weakness of facial musculature,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0030692,Brain neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0031466,Impairment in personality functioning,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0031546,Cardiac conduction abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0040171,Decreased serum testosterone concentration,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0040173,Abnormality of the tongue muscle,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0040198,Non-medullary thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0100284,EMG: myotonic discharges,Very frequent (99-80%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0100786,Hypersomnia,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0200136,Oral-pharyngeal dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008310,Orphanet,273,ORPHA:273,108,HP:0410011,Abnormality of masticatory muscle,Frequent (79-30%),TAS,,,,"[PMID:20301344, PMID:24882752, PMID:25037086]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0000773,Short ribs,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0001193,Ulnar deviation of the hand or of fingers of the hand,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0001230,Broad metacarpals,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0001234,Hitchhiker thumb,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0001538,Protuberant abdomen,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0001591,Bell-shaped thorax,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0001602,Laryngeal stenosis,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0001776,Bilateral talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0001840,Metatarsus adductus,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0002786,Tracheobronchomalacia,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0002947,Cervical kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0002983,Micromelia,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0003042,Elbow dislocation,Very rare (<4-1%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0003097,Short femur,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0003423,Thoracolumbar kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0004664,Facial midline hemangioma,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0004991,Rhizomelic arm shortening,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0005257,Thoracic hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0006009,Broad phalanx,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0006375,Dumbbell-shaped femur,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0006385,Short lower limbs,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0008110,Equinovarus deformity,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0008434,Hypoplastic cervical vertebrae,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0008752,Laryngeal cartilage malformation,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0008905,Rhizomelia,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0009803,Short phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0009824,Upper limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0009826,Limb undergrowth,Very frequent (99-80%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0012385,Camptodactyly,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0012427,Excessive femoral anteversion,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0012810,Wide nasal base,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0100337,Bilateral cleft palate,Occasional (29-5%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008329,Orphanet,56304,ORPHA:56304,53,HP:0100694,Tibial torsion,Frequent (79-30%),TAS,,,,"[PMID:20301493, PMID:21077202]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0000375,Abnormal cochlea morphology,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0000399,Prelingual sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0000551,Color vision defect,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0000603,Central scotoma,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0000649,Abnormality of visual evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0000751,Personality changes,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0001751,Vestibular dysfunction,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0002186,Apraxia,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0002283,Global brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0002340,Caudate atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0002362,Shuffling gait,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0004373,Focal dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0004432,Agammaglobulinemia,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0004463,Absent brainstem auditory responses,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0006801,Hyperactive deep tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0007018,Attention deficit hyperactivity disorder,Very rare (<4-1%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0007325,Generalized dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0007377,Abnormality of somatosensory evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0008596,Postlingual sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0011448,Ankle clonus,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0011999,Paranoia,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0012048,Oromandibular dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008331,Orphanet,52368,ORPHA:52368,41,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:20301395, PMID:22736418, PMID:30634948]",y,y +GARD:0008334,Orphanet,98902,ORPHA:98902,12,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,"[PMID:10952871, PMID:25712079]",y,y +GARD:0008334,Orphanet,98902,ORPHA:98902,12,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:10952871, PMID:25712079]",y,y +GARD:0008334,Orphanet,98902,ORPHA:98902,12,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:10952871, PMID:25712079]",y,y +GARD:0008334,Orphanet,98902,ORPHA:98902,12,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:10952871, PMID:25712079]",y,y +GARD:0008334,Orphanet,98902,ORPHA:98902,12,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:10952871, PMID:25712079]",y,y +GARD:0008334,Orphanet,98902,ORPHA:98902,12,HP:0002747,Respiratory insufficiency due to muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:10952871, PMID:25712079]",y,y +GARD:0008334,Orphanet,98902,ORPHA:98902,12,HP:0003044,Shoulder flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:10952871, PMID:25712079]",y,y +GARD:0008334,Orphanet,98902,ORPHA:98902,12,HP:0003273,Hip contracture,Frequent (79-30%),TAS,,,,"[PMID:10952871, PMID:25712079]",y,y +GARD:0008334,Orphanet,98902,ORPHA:98902,12,HP:0003323,Progressive muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10952871, PMID:25712079]",y,y +GARD:0008334,Orphanet,98902,ORPHA:98902,12,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:10952871, PMID:25712079]",y,y +GARD:0008334,Orphanet,98902,ORPHA:98902,12,HP:0003803,Type 1 muscle fiber predominance,Frequent (79-30%),TAS,,,,"[PMID:10952871, PMID:25712079]",y,y +GARD:0008334,Orphanet,98902,ORPHA:98902,12,HP:0007126,Proximal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:10952871, PMID:25712079]",y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0000315,Abnormality of the orbital region,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0000609,Optic nerve hypoplasia,Frequent (79-30%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0000647,Sclerocornea,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0000766,Abnormal sternum morphology,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0001100,Heterochromia iridis,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0001305,Dandy-Walker malformation,Frequent (79-30%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0002408,Cerebral arteriovenous malformation,Frequent (79-30%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0002616,Aortic root aneurysm,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0005306,Capillary hemangioma,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0005344,Abnormal carotid artery morphology,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0007797,Retinal vascular malformation,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0009145,Abnormal cerebral artery morphology,Very frequent (99-80%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0100028,Ectopic thyroid,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0100719,Lens coloboma,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008338,Orphanet,42775,ORPHA:42775,34,HP:0100761,Visceral angiomatosis,Occasional (29-5%),TAS,,,,[PMID:26469095],y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001460,Aplasia/Hypoplasia involving the skeletal musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0001618,Dysphonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0002334,Abnormal cerebellar vermis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0002673,Coxa valga,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0003241,External genital hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0003560,Muscular dystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0010508,Metatarsus valgus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0010547,Muscle flaccidity,Frequent (79-30%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0012400,Abnormal aldolase level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0040081,Abnormal circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0045040,Abnormal lactate dehydrogenase level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008341,Orphanet,559,ORPHA:559,45,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008360,Orphanet,85332,ORPHA:85332,2,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008360,Orphanet,85332,ORPHA:85332,2,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0000883,Thin ribs,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0002199,Hypocalcemic seizures,Very frequent (99-80%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0003472,Hypocalcemic tetany,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0004331,Decreased skull ossification,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0005450,Calvarial osteosclerosis,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0005791,Cortical thickening of long bone diaphyses,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0006470,Thin long bone diaphyses,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0006645,Thin clavicles,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0008198,Congenital hypoparathyroidism,Very frequent (99-80%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0100254,Stenosis of the medullary cavity of the long bones,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008367,Orphanet,93324,ORPHA:93324,22,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:12389028, PMID:1308349, PMID:23087875, PMID:2843457]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001410,Decreased liver function,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0002060,Abnormal cerebral morphology,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0002151,Increased serum lactate,Very frequent (99-80%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0002310,Orofacial dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0002344,Progressive neurologic deterioration,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0002401,Stroke-like episode,Very frequent (99-80%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0002490,Increased CSF lactate,Very frequent (99-80%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0003688,Cytochrome C oxidase-negative muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0005599,Hypopigmentation of hair,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0007183,Focal T2 hyperintense basal ganglia lesion,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0007325,Generalized dystonia,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0008347,Decreased activity of mitochondrial complex IV,Very frequent (99-80%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0010536,Central sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0010841,Multifocal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0011203,EEG with abnormally slow frequencies,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0012243,Abnormal reproductive system morphology,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0025356,Psychomotor retardation,Very frequent (99-80%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008370,Orphanet,70472,ORPHA:70472,46,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:26425749, PMID:29152527]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0000105,Enlarged kidney,Very frequent (99-80%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0000113,Polycystic kidney dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0000347,Micrognathia,Very rare (<4-1%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0000369,Low-set ears,Very rare (<4-1%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0000457,Depressed nasal ridge,Very rare (<4-1%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0001395,Hepatic fibrosis,Very frequent (99-80%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0001396,Cholestasis,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0001405,Periportal fibrosis,Very frequent (99-80%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0001409,Portal hypertension,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0001737,Pancreatic cysts,Very rare (<4-1%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0001971,Hypersplenism,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0002040,Esophageal varix,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0002108,Spontaneous pneumothorax,Very rare (<4-1%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0002243,Protein-losing enteropathy,Occasional (29-5%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0002612,Congenital hepatic fibrosis,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0002630,Fat malabsorption,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0002791,Hypoventilation,Occasional (29-5%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0002884,Hepatoblastoma,Occasional (29-5%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0003774,Stage 5 chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0004905,Low levels of vitamin A,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0005565,Reduced renal corticomedullary differentiation,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0006560,Biliary hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0011040,Abnormality of the intrahepatic bile duct,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0011892,Low levels of vitamin K,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0012202,Increased serum bile acid concentration,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0030151,Cholangitis,Occasional (29-5%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0030153,Cholangiocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0030948,Elevated gamma-glutamyltransferase level,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0040064,Abnormality of limbs,Very rare (<4-1%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0100512,Low levels of vitamin D,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0100513,Low levels of vitamin E,Frequent (79-30%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0100520,Oliguria,Occasional (29-5%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008378,Orphanet,731,ORPHA:731,51,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:20301501, PMID:25689455, PMID:28530676]",y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0000121,Nephrocalcinosis,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0000381,Stapes ankylosis,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0000410,Mixed hearing impairment,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0000573,Retinal hemorrhage,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0000630,Abnormal retinal artery morphology,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0000951,Abnormality of the skin,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0000969,Edema,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0001102,Angioid streaks of the fundus,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0001384,Abnormal hip joint morphology,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0001531,Failure to thrive in infancy,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0001714,Ventricular hypertrophy,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0001717,Coronary artery calcification,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0001945,Fever,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0002092,Pulmonary arterial hypertension,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0002326,Transient ischemic attack,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0002514,Cerebral calcification,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0002647,Aortic dissection,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0002749,Osteomalacia,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0002815,Abnormality of the knee,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0002949,Fused cervical vertebrae,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0003109,Hyperphosphaturia,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0003207,Arterial calcification,Very frequent (99-80%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0003836,Stippled calcification of the shoulder,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0003941,Stippled calcification of the elbow,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0004912,Hypophosphatemic rickets,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0004963,Calcification of the aorta,Very frequent (99-80%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0004966,Medial calcification of large arteries,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0005103,Calcification of the auricular cartilage,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0005213,Pancreatic calcification,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0006559,Hepatic calcification,Very frequent (99-80%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0006690,Myocardial calcification,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0009164,Abnormal calcification of the carpal bones,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0010512,Adrenal calcification,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0010639,Elevated alkaline phosphatase of bone origin,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0010766,Ectopic calcification,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0011344,Severe global developmental delay,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0011506,Choroidal neovascularization,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0012408,Medullary nephrocalcinosis,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0012409,Cortical nephrocalcinosis,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0012457,Medial calcification of medium-sized arteries,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0025116,Fetal distress,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0025169,Left ventricular systolic dysfunction,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0025477,Periarticular calcification,Frequent (79-30%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0032553,Weak pulse,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0040197,Encephalomalacia,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0100758,Gangrene,Very rare (<4-1%),TAS,,,,[PMID:25392903],y,y +GARD:0008380,Orphanet,51608,ORPHA:51608,64,HP:0200067,Recurrent spontaneous abortion,Occasional (29-5%),TAS,,,,[PMID:25392903],y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001257,Spasticity,Very rare (<4-1%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001260,Dysarthria,Very rare (<4-1%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001325,Hypoglycemic coma,Very rare (<4-1%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001644,Dilated cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001695,Cardiac arrest,Very rare (<4-1%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001735,Acute pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001894,Thrombocytosis,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001958,Nonketotic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001987,Hyperammonemia,Very frequent (99-80%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0001988,Recurrent hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002045,Hypothermia,Very rare (<4-1%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002149,Hyperuricemia,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002352,Leukoencephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002572,Episodic vomiting,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0002919,Ketonuria,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0003344,3-Methylglutaric aciduria,Very frequent (99-80%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0006561,Lipid accumulation in hepatocytes,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0006582,Reye syndrome-like episodes,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0008151,Prolonged prothrombin time,Frequent (79-30%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0011099,Spastic hemiparesis,Very rare (<4-1%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008387,Orphanet,20,ORPHA:20,54,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:12565045, PMID:28583327, PMID:3958190, PMID:6156427, PMID:6489380, PMID:85928]",y,y +GARD:0008391,Orphanet,664,ORPHA:664,6,HP:0001399,Hepatic failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008391,Orphanet,664,ORPHA:664,6,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008391,Orphanet,664,ORPHA:664,6,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008391,Orphanet,664,ORPHA:664,6,HP:0001987,Hyperammonemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008391,Orphanet,664,ORPHA:664,6,HP:0002021,Pyloric stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008391,Orphanet,664,ORPHA:664,6,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0001734,Annular pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0001743,Abnormality of the spleen,Occasional (29-5%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0001822,Hallux valgus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0002032,Esophageal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0002247,Duodenal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0008572,External ear malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0009468,Deviation of the 2nd finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008407,Orphanet,1305,ORPHA:1305,21,HP:0012745,Short palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0000370,Abnormality of the middle ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0000378,Cupped ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0000625,Eyelid coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0002558,Supernumerary nipple,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0002984,Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0003022,Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0007651,Ectropion of lower eyelids,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0008410,Orphanet,246,ORPHA:246,20,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0008414,Orphanet,888,ORPHA:888,6,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0008414,Orphanet,888,ORPHA:888,6,HP:0000196,Lower lip pit,Frequent (79-30%),TAS,,,,,y,y +GARD:0008414,Orphanet,888,ORPHA:888,6,HP:0000204,Cleft upper lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0008414,Orphanet,888,ORPHA:888,6,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008414,Orphanet,888,ORPHA:888,6,HP:0010286,Abnormal salivary gland morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008414,Orphanet,888,ORPHA:888,6,HP:0100267,Lip pit,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0000538,Pseudopapilledema,Very frequent (99-80%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0000609,Optic nerve hypoplasia,Obligate (100%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0007710,Peripheral vitreous opacities,Frequent (79-30%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0007766,Optic disc hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0008053,Aplasia/Hypoplasia of the iris,Occasional (29-5%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0011480,Unilateral microphthalmos,Occasional (29-5%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0012547,Abnormal involuntary eye movements,Occasional (29-5%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008419,Orphanet,137902,ORPHA:137902,16,HP:0030534,Abnormal best corrected visual acuity test,Very frequent (99-80%),TAS,,,,"[PMID:1115199, PMID:12721955]",y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0000215,Thick upper lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008421,Orphanet,884,ORPHA:884,29,HP:0100736,Abnormal soft palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000013,Hypoplasia of the uterus,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000060,Clitoral hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000073,Ureteral duplication,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000075,Renal duplication,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000204,Cleft upper lip,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000659,Peters anomaly,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000830,Anterior hypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000851,Congenital hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0001642,Pulmonic stenosis,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0001831,Short toe,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0002000,Short columella,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0002263,Exaggerated cupid's bow,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0004383,Hypoplastic left heart,Very rare (<4-1%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0004414,Abnormality of the pulmonary artery,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0004467,Preauricular pit,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0005182,Bicuspid pulmonary valve,Very rare (<4-1%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0007833,Anterior chamber synechiae,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0008569,"Microtia, second degree",Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0008905,Rhizomelia,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0030968,Abnormal pulmonary vein morphology,Very rare (<4-1%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008422,Orphanet,709,ORPHA:709,84,HP:0100819,Intestinal fistula,Occasional (29-5%),TAS,,,,"[PMID:12119218, PMID:1856836, PMID:18798333, PMID:19796186, PMID:3189394]",y,y +GARD:0008423,Orphanet,1399,ORPHA:1399,13,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0008423,Orphanet,1399,ORPHA:1399,13,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008423,Orphanet,1399,ORPHA:1399,13,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008423,Orphanet,1399,ORPHA:1399,13,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008423,Orphanet,1399,ORPHA:1399,13,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008423,Orphanet,1399,ORPHA:1399,13,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008423,Orphanet,1399,ORPHA:1399,13,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008423,Orphanet,1399,ORPHA:1399,13,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008423,Orphanet,1399,ORPHA:1399,13,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008423,Orphanet,1399,ORPHA:1399,13,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0008423,Orphanet,1399,ORPHA:1399,13,HP:0002919,Ketonuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0008423,Orphanet,1399,ORPHA:1399,13,HP:0003693,Distal amyotrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008423,Orphanet,1399,ORPHA:1399,13,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0008424,Orphanet,42062,ORPHA:42062,6,HP:0002154,Hyperglycinemia,Excluded (0%),TAS,,,,"[PMID:18200002, PMID:19033659, PMID:7504361]",y,y +GARD:0008424,Orphanet,42062,ORPHA:42062,6,HP:0003080,Hydroxyprolinuria,Obligate (100%),TAS,,,,"[PMID:18200002, PMID:19033659, PMID:7504361]",y,y +GARD:0008424,Orphanet,42062,ORPHA:42062,6,HP:0003108,Hyperglycinuria,Obligate (100%),TAS,,,,"[PMID:18200002, PMID:19033659, PMID:7504361]",y,y +GARD:0008424,Orphanet,42062,ORPHA:42062,6,HP:0003137,Prolinuria,Obligate (100%),TAS,,,,"[PMID:18200002, PMID:19033659, PMID:7504361]",y,y +GARD:0008424,Orphanet,42062,ORPHA:42062,6,HP:0003260,Hydroxyprolinemia,Excluded (0%),TAS,,,,"[PMID:18200002, PMID:19033659, PMID:7504361]",y,y +GARD:0008424,Orphanet,42062,ORPHA:42062,6,HP:0008358,Hyperprolinemia,Excluded (0%),TAS,,,,"[PMID:18200002, PMID:19033659, PMID:7504361]",y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0005990,Thyroid hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,,y,y +GARD:0008426,Orphanet,95720,ORPHA:95720,15,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0000882,Hypoplastic scapulae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0001762,Talipes equinovarus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0004331,Decreased skull ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0006660,Aplastic clavicle,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0008428,Orphanet,1512,ORPHA:1512,20,HP:0100569,Abnormally ossified vertebrae,Frequent (79-30%),TAS,,,,,y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0000329,Facial hemangioma,Very rare (<4-1%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0001256,"Intellectual disability, mild",Very rare (<4-1%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0001388,Joint laxity,Very rare (<4-1%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0002047,Malignant hyperthermia,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0002058,Myopathic facies,Very frequent (99-80%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0002540,Inability to walk,Very rare (<4-1%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0002803,Congenital contracture,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0002804,Arthrogryposis multiplex congenita,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0008458,Progressive congenital scoliosis,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0010674,Abnormality of the curvature of the vertebral column,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0011819,Submucous cleft soft palate,Occasional (29-5%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0012084,Abnormality of skeletal muscle fiber size,Frequent (79-30%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0012385,Camptodactyly,Very rare (<4-1%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008432,Orphanet,168572,ORPHA:168572,34,HP:0100295,Muscle fiber atrophy,Occasional (29-5%),TAS,,,,"[PMID:18553514, PMID:31219695]",y,y +GARD:0008435,Orphanet,2856,ORPHA:2856,3,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008435,Orphanet,2856,ORPHA:2856,3,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008435,Orphanet,2856,ORPHA:2856,3,HP:0000037,Male pseudohermaphroditism,Frequent (79-30%),TAS,,,,,y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0001027,"Soft, doughy skin",Occasional (29-5%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0002092,Pulmonary arterial hypertension,Frequent (79-30%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0004334,Dermal atrophy,Occasional (29-5%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0004415,Pulmonary artery stenosis,Very frequent (99-80%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0011108,Recurrent sinusitis,Frequent (79-30%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0100593,Calcification of cartilage,Very frequent (99-80%),TAS,,,,[PMID:15810001],y,y +GARD:0008449,Orphanet,85202,ORPHA:85202,24,HP:0100682,Tracheal atresia,Very frequent (99-80%),TAS,,,,[PMID:15810001],y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0001034,Hypermelanotic macule,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0001055,Erysipelas,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0001637,Abnormal myocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0001701,Pericarditis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0001954,Recurrent fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0002102,Pleuritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0002586,Peritonitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0005214,Intestinal obstruction,Frequent (79-30%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0011227,Elevated circulating C-reactive protein concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0100537,Fasciitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0100539,Periorbital edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0100614,Myositis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0100776,Recurrent pharyngitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0100781,Abnormal sacroiliac joint morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008457,Orphanet,32960,ORPHA:32960,40,HP:0100796,Orchitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0000829,Hypoparathyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0002728,Chronic mucocutaneous candidiasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0003118,Increased circulating cortisol level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0004319,Decreased circulating aldosterone level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0007759,Opacification of the corneal stroma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0008207,Primary adrenal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0008221,Adrenal hyperplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0100530,Abnormal calcium-phosphate regulating hormone level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008466,Orphanet,3453,ORPHA:3453,17,HP:0100659,Abnormal cerebral vascular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008471,Orphanet,54,ORPHA:54,14,HP:0000483,Astigmatism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008471,Orphanet,54,ORPHA:54,14,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008471,Orphanet,54,ORPHA:54,14,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0008471,Orphanet,54,ORPHA:54,14,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008471,Orphanet,54,ORPHA:54,14,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008471,Orphanet,54,ORPHA:54,14,HP:0000615,Abnormal pupil morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008471,Orphanet,54,ORPHA:54,14,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008471,Orphanet,54,ORPHA:54,14,HP:0001103,Abnormal macular morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0008471,Orphanet,54,ORPHA:54,14,HP:0001107,Ocular albinism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008471,Orphanet,54,ORPHA:54,14,HP:0001480,Freckling,Frequent (79-30%),TAS,,,,,y,y +GARD:0008471,Orphanet,54,ORPHA:54,14,HP:0005592,Giant melanosomes in melanocytes,Occasional (29-5%),TAS,,,,,y,y +GARD:0008471,Orphanet,54,ORPHA:54,14,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008471,Orphanet,54,ORPHA:54,14,HP:0007750,Hypoplasia of the fovea,Frequent (79-30%),TAS,,,,,y,y +GARD:0008471,Orphanet,54,ORPHA:54,14,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0000078,Abnormality of the genital system,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0000100,Nephrotic syndrome,Frequent (79-30%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0000366,Abnormality of the nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0000408,Progressive sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0000509,Conjunctivitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0000554,Uveitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0001025,Urticaria,Frequent (79-30%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0001769,Broad foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0001917,Renal amyloidosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0001939,Abnormality of metabolism/homeostasis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0004299,Hernia of the abdominal wall,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0011107,Recurrent aphthous stomatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0008472,Orphanet,575,ORPHA:575,37,HP:0100534,Episcleritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0000252,Microcephaly,Excluded (0%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0000260,Wide anterior fontanel,Excluded (0%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0000270,Delayed cranial suture closure,Excluded (0%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0000494,Downslanted palpebral fissures,Excluded (0%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0000518,Cataract,Excluded (0%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0000929,Abnormal skull morphology,Occasional (29-5%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0000973,Cutis laxa,Obligate (100%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0001332,Dystonia,Excluded (0%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0002011,Morphological central nervous system abnormality,Excluded (0%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0002097,Emphysema,Very frequent (99-80%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0002107,Pneumothorax,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0002256,Small bowel diverticula,Occasional (29-5%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0002617,Vascular dilatation,Occasional (29-5%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0002756,Pathologic fracture,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0003510,Severe short stature,Excluded (0%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0004381,Supravalvular aortic stenosis,Occasional (29-5%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0004426,Abnormality of the cheek,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0004969,Peripheral pulmonary artery stenosis,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0006698,Dilatation of the ventricular cavity,Occasional (29-5%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0008722,Urethral diverticulum,Occasional (29-5%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0010750,Dermatochalasis,Very frequent (99-80%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0011004,Abnormal systemic arterial morphology,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0012330,Pyelonephritis,Occasional (29-5%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0012619,Multiple bladder diverticula,Occasional (29-5%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0025167,Fragmented elastic fibers in the dermis,Very frequent (99-80%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0030872,Abnormal cardiac ventricular function,Occasional (29-5%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0032153,Joint subluxation,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0045027,Abnormality of the thoracic cavity,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0100679,Lack of skin elasticity,Very frequent (99-80%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008480,Orphanet,90349,ORPHA:90349,46,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,"[PMID:19401719, PMID:20301756, PMID:30422539]",y,y +GARD:0008485,Orphanet,85203,ORPHA:85203,3,HP:0000765,Abnormal thorax morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008485,Orphanet,85203,ORPHA:85203,3,HP:0001177,Preaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008485,Orphanet,85203,ORPHA:85203,3,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000009,Functional abnormality of the bladder,Occasional (29-5%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000023,Inguinal hernia,Very rare (<4-1%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000085,Horseshoe kidney,Very rare (<4-1%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000308,Microretrognathia,Frequent (79-30%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000483,Astigmatism,Frequent (79-30%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000592,Blue sclerae,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000766,Abnormal sternum morphology,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0001075,Atrophic scars,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0001238,Slender finger,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0001519,Disproportionate tall stature,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0001582,Redundant skin,Frequent (79-30%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0001933,Subcutaneous hemorrhage,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0002107,Pneumothorax,Occasional (29-5%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0002194,Delayed gross motor development,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0002761,Generalized joint laxity,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0002947,Cervical kyphosis,Frequent (79-30%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0003199,Decreased muscle mass,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0003319,Abnormality of the cervical spine,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0003414,Atlantoaxial dislocation,Occasional (29-5%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0004794,Malrotation of small bowel,Very rare (<4-1%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0005272,Prominent nasolabial fold,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0006184,Decreased palmar creases,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0007906,Ocular hypertension,Frequent (79-30%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0008572,External ear malformation,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0012534,Dysesthesia,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0031869,Recurrent joint dislocation,Very frequent (99-80%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0100016,Abnormality of mesentery morphology,Occasional (29-5%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008486,Orphanet,2953,ORPHA:2953,63,HP:0410030,Cleft lip,Occasional (29-5%),TAS,,,,"[PMID:26373698, PMID:26646600, PMID:30195269]",y,y +GARD:0008487,Orphanet,199267,ORPHA:199267,5,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,[PMID:27684985],y,y +GARD:0008487,Orphanet,199267,ORPHA:199267,5,HP:0001036,Parakeratosis,Frequent (79-30%),TAS,,,,[PMID:27684985],y,y +GARD:0008487,Orphanet,199267,ORPHA:199267,5,HP:0012531,Pain,Very rare (<4-1%),TAS,,,,[PMID:27684985],y,y +GARD:0008487,Orphanet,199267,ORPHA:199267,5,HP:0025092,Epidermal acanthosis,Frequent (79-30%),TAS,,,,[PMID:27684985],y,y +GARD:0008487,Orphanet,199267,ORPHA:199267,5,HP:0200036,Skin nodule,Obligate (100%),TAS,,,,[PMID:27684985],y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:0000853,Goiter,Frequent (79-30%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:0002176,Spinal cord compression,Occasional (29-5%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:0002730,Chronic noninfectious lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:0002733,Abnormality of the lymph nodes,Frequent (79-30%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:0002895,Papillary thyroid carcinoma,Occasional (29-5%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:0003003,Colon cancer,Occasional (29-5%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:0005994,Nodular goiter,Very frequent (99-80%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:0006528,Chronic lung disease,Occasional (29-5%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:0006731,Follicular thyroid carcinoma,Very frequent (99-80%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:0006766,Papillary renal cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:0012288,Neoplasm of head and neck,Very frequent (99-80%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008488,Orphanet,319487,ORPHA:319487,15,HP:3000037,Abnormal neck blood vessel morphology,Very frequent (99-80%),TAS,,,,"[PMID:10030330, PMID:11701697, PMID:18832444, PMID:20001717, PMID:20628519, PMID:21190444, PMID:21593347, PMID:21816796, PMID:22136209, PMID:22443981, PMID:24617715, PMID:24857573, PMID:25881596, PMID:25928353, PMID:3789026, PMID:7632152, PMID:9024215, PMID:9186475]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0000078,Abnormality of the genital system,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0000939,Osteoporosis,Very rare (<4-1%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0001395,Hepatic fibrosis,Frequent (79-30%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0001402,Hepatocellular carcinoma,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0001413,Micronodular cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0002586,Peritonitis,Very rare (<4-1%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0002614,Hepatic periportal necrosis,Frequent (79-30%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0003118,Increased circulating cortisol level,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0003281,Increased circulating ferritin concentration,Very frequent (99-80%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0006562,Viral hepatitis,Frequent (79-30%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0011459,Esophageal carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0011732,Abnormality of adrenal morphology,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0011772,Abnormal thyroid morphology,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0012090,Abnormal pancreas morphology,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0012115,Hepatitis,Frequent (79-30%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0012463,Elevated transferrin saturation,Frequent (79-30%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0012465,Elevated hepatic iron concentration,Frequent (79-30%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0012852,Hepatic bridging fibrosis,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0031035,Chronic infection,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008495,Orphanet,139507,ORPHA:139507,25,HP:0100510,Low levels of vitamin C,Occasional (29-5%),TAS,,,,"[PMID:10615217, PMID:10881373, PMID:14515008, PMID:1727237, PMID:8549953]",y,y +GARD:0008505,Orphanet,75497,ORPHA:75497,10,HP:0000023,Inguinal hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008505,Orphanet,75497,ORPHA:75497,10,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008505,Orphanet,75497,ORPHA:75497,10,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008505,Orphanet,75497,ORPHA:75497,10,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008505,Orphanet,75497,ORPHA:75497,10,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008505,Orphanet,75497,ORPHA:75497,10,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008505,Orphanet,75497,ORPHA:75497,10,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008505,Orphanet,75497,ORPHA:75497,10,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008505,Orphanet,75497,ORPHA:75497,10,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008505,Orphanet,75497,ORPHA:75497,10,HP:0100790,Hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0000763,Sensory neuropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0000835,Adrenal hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0000974,Hyperextensible skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0004416,Precocious atherosclerosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008507,Orphanet,230839,ORPHA:230839,21,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0000069,Abnormality of the ureter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0004493,Craniofacial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0004828,Refractory anemia with ringed sideroblasts,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0005105,Abnormal nasal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0005978,Type II diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0006288,Advanced eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0009912,Abnormal tragus morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0010311,Aplasia/Hypoplasia of the breasts,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0100651,Type I diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008509,Orphanet,1133,ORPHA:1133,26,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008517,Orphanet,384,ORPHA:384,7,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008517,Orphanet,384,ORPHA:384,7,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008517,Orphanet,384,ORPHA:384,7,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008517,Orphanet,384,ORPHA:384,7,HP:0001792,Small nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008517,Orphanet,384,ORPHA:384,7,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008517,Orphanet,384,ORPHA:384,7,HP:0011838,Sclerodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008517,Orphanet,384,ORPHA:384,7,HP:0100679,Lack of skin elasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008520,Orphanet,1568,ORPHA:1568,7,HP:0000023,Inguinal hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008520,Orphanet,1568,ORPHA:1568,7,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008520,Orphanet,1568,ORPHA:1568,7,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008520,Orphanet,1568,ORPHA:1568,7,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008520,Orphanet,1568,ORPHA:1568,7,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008520,Orphanet,1568,ORPHA:1568,7,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008520,Orphanet,1568,ORPHA:1568,7,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0000773,Short ribs,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0000887,Cupped ribs,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0001220,Interphalangeal joint contracture of finger,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0001308,Tongue fasciculations,Occasional (29-5%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0002009,Potter facies,Occasional (29-5%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0002033,Poor suck,Very frequent (99-80%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0002058,Myopathic facies,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0002398,Degeneration of anterior horn cells,Very frequent (99-80%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0002425,Anarthria,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0002518,Abnormal periventricular white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0002804,Arthrogryposis multiplex congenita,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0003273,Hip contracture,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0003324,Generalized muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0003445,EMG: neuropathic changes,Very frequent (99-80%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0004303,Abnormal muscle fiber morphology,Very frequent (99-80%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0006380,Knee flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0006466,Ankle flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0006802,Abnormal anterior horn cell morphology,Very frequent (99-80%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0007178,Motor polyneuropathy,Occasional (29-5%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0007269,Spinal muscular atrophy,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0008180,Mildly elevated creatine kinase,Occasional (29-5%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0009071,Inflammatory myopathy,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0020110,Bone fracture,Frequent (79-30%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0030319,Weakness of facial musculature,Occasional (29-5%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008521,Orphanet,1145,ORPHA:1145,37,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:23518311, PMID:31932168, PMID:32181232]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0001058,Poor wound healing,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0001342,Cerebral hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0001873,Thrombocytopenia,Obligate (100%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0001878,Hemolytic anemia,Very frequent (99-80%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0001919,Acute kidney injury,Very rare (<4-1%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0001937,Microangiopathic hemolytic anemia,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0002910,Elevated hepatic transaminase,Obligate (100%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0003641,Hemoglobinuria,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0004324,Increased body weight,Frequent (79-30%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0005521,Disseminated intravascular coagulation,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0007430,Generalized edema,Frequent (79-30%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0008071,Maternal hypertension,Frequent (79-30%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0008151,Prolonged prothrombin time,Frequent (79-30%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0011029,Internal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0011419,Placental abruption,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0011900,Hypofibrinogenemia,Frequent (79-30%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0025435,Increased circulating lactate dehydrogenase concentration,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0025547,Decreased mean corpuscular hemoglobin concentration,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0030834,Shoulder pain,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0100598,Pulmonary edema,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0100601,Eclampsia,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0100602,Preeclampsia,Frequent (79-30%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008528,Orphanet,244242,ORPHA:244242,32,HP:0410019,Epigastric pain,Occasional (29-5%),TAS,,,,"[PMID:10925900, PMID:27181089, PMID:30801473]",y,y +GARD:0008530,Orphanet,399805,ORPHA:399805,7,HP:0000027,Azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:22335740, PMID:23349759, PMID:26194704, PMID:9371856]",y,y +GARD:0008530,Orphanet,399805,ORPHA:399805,7,HP:0000118,Phenotypic abnormality,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:22335740, PMID:23349759, PMID:26194704, PMID:9371856]",y,y +GARD:0008530,Orphanet,399805,ORPHA:399805,7,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:22335740, PMID:23349759, PMID:26194704, PMID:9371856]",y,y +GARD:0008530,Orphanet,399805,ORPHA:399805,7,HP:0008669,Abnormal spermatogenesis,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:22335740, PMID:23349759, PMID:26194704, PMID:9371856]",y,y +GARD:0008530,Orphanet,399805,ORPHA:399805,7,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:22335740, PMID:23349759, PMID:26194704, PMID:9371856]",y,y +GARD:0008530,Orphanet,399805,ORPHA:399805,7,HP:0011961,Non-obstructive azoospermia,Very frequent (99-80%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:22335740, PMID:23349759, PMID:26194704, PMID:9371856]",y,y +GARD:0008530,Orphanet,399805,ORPHA:399805,7,HP:0011962,Obstructive azoospermia,Frequent (79-30%),TAS,,,,"[PMID:12788881, PMID:14573733, PMID:17034399, PMID:17761590, PMID:18596921, PMID:18834967, PMID:19535795, PMID:22335740, PMID:23349759, PMID:26194704, PMID:9371856]",y,y +GARD:0008532,Orphanet,220460,ORPHA:220460,14,HP:0000131,Uterine leiomyoma,Occasional (29-5%),TAS,,,,[PMID:27476653],y,y +GARD:0008532,Orphanet,220460,ORPHA:220460,14,HP:0000854,Thyroid adenoma,Occasional (29-5%),TAS,,,,[PMID:27476653],y,y +GARD:0008532,Orphanet,220460,ORPHA:220460,14,HP:0004783,Duodenal polyposis,Frequent (79-30%),TAS,,,,[PMID:27476653],y,y +GARD:0008532,Orphanet,220460,ORPHA:220460,14,HP:0005227,Adenomatous colonic polyposis,Frequent (79-30%),TAS,,,,[PMID:27476653],y,y +GARD:0008532,Orphanet,220460,ORPHA:220460,14,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,[PMID:27476653],y,y +GARD:0008532,Orphanet,220460,ORPHA:220460,14,HP:0006753,Neoplasm of the stomach,Frequent (79-30%),TAS,,,,[PMID:27476653],y,y +GARD:0008532,Orphanet,220460,ORPHA:220460,14,HP:0007649,Congenital hypertrophy of retinal pigment epithelium,Excluded (0%),TAS,,,,[PMID:27476653],y,y +GARD:0008532,Orphanet,220460,ORPHA:220460,14,HP:0009592,Astrocytoma,Occasional (29-5%),TAS,,,,[PMID:27476653],y,y +GARD:0008532,Orphanet,220460,ORPHA:220460,14,HP:0010614,Fibroma,Occasional (29-5%),TAS,,,,[PMID:27476653],y,y +GARD:0008532,Orphanet,220460,ORPHA:220460,14,HP:0012740,Papilloma,Occasional (29-5%),TAS,,,,[PMID:27476653],y,y +GARD:0008532,Orphanet,220460,ORPHA:220460,14,HP:0030255,Large intestinal polyposis,Frequent (79-30%),TAS,,,,[PMID:27476653],y,y +GARD:0008532,Orphanet,220460,ORPHA:220460,14,HP:0040276,Adenocarcinoma of the colon,Occasional (29-5%),TAS,,,,[PMID:27476653],y,y +GARD:0008532,Orphanet,220460,ORPHA:220460,14,HP:0100896,Rectal polyposis,Frequent (79-30%),TAS,,,,[PMID:27476653],y,y +GARD:0008532,Orphanet,220460,ORPHA:220460,14,HP:0200063,Colorectal polyposis,Very frequent (99-80%),TAS,,,,[PMID:27476653],y,y +GARD:0008535,Orphanet,661,ORPHA:661,10,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0008535,Orphanet,661,ORPHA:661,10,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008535,Orphanet,661,ORPHA:661,10,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008535,Orphanet,661,ORPHA:661,10,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0008535,Orphanet,661,ORPHA:661,10,HP:0002270,Abnormality of the autonomic nervous system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008535,Orphanet,661,ORPHA:661,10,HP:0003005,Ganglioneuroma,Occasional (29-5%),TAS,,,,,y,y +GARD:0008535,Orphanet,661,ORPHA:661,10,HP:0003006,Neuroblastoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0008535,Orphanet,661,ORPHA:661,10,HP:0006747,Ganglioneuroblastoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0008535,Orphanet,661,ORPHA:661,10,HP:0100006,Neoplasm of the central nervous system,Occasional (29-5%),TAS,,,,,y,y +GARD:0008535,Orphanet,661,ORPHA:661,10,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0008539,Orphanet,210128,ORPHA:210128,11,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMID:19304569],y,y +GARD:0008539,Orphanet,210128,ORPHA:210128,11,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,[PMID:19304569],y,y +GARD:0008539,Orphanet,210128,ORPHA:210128,11,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,[PMID:19304569],y,y +GARD:0008539,Orphanet,210128,ORPHA:210128,11,HP:0002078,Truncal ataxia,Very frequent (99-80%),TAS,,,,[PMID:19304569],y,y +GARD:0008539,Orphanet,210128,ORPHA:210128,11,HP:0002136,Broad-based gait,Very frequent (99-80%),TAS,,,,[PMID:19304569],y,y +GARD:0008539,Orphanet,210128,ORPHA:210128,11,HP:0002345,Action tremor,Very frequent (99-80%),TAS,,,,[PMID:19304569],y,y +GARD:0008539,Orphanet,210128,ORPHA:210128,11,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,[PMID:19304569],y,y +GARD:0008539,Orphanet,210128,ORPHA:210128,11,HP:0006801,Hyperactive deep tendon reflexes,Very frequent (99-80%),TAS,,,,[PMID:19304569],y,y +GARD:0008539,Orphanet,210128,ORPHA:210128,11,HP:0007979,Gaze-evoked horizontal nystagmus,Very frequent (99-80%),TAS,,,,[PMID:19304569],y,y +GARD:0008539,Orphanet,210128,ORPHA:210128,11,HP:0010904,Abnormal circulating histidine concentration,Very frequent (99-80%),TAS,,,,[PMID:19304569],y,y +GARD:0008539,Orphanet,210128,ORPHA:210128,11,HP:0012237,Urocanic aciduria,Very frequent (99-80%),TAS,,,,[PMID:19304569],y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0000017,Nocturia,Occasional (29-5%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0000020,Urinary incontinence,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0000097,Focal segmental glomerulosclerosis,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0000128,Renal potassium wasting,Occasional (29-5%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0000360,Tinnitus,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0000622,Blurred vision,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0000805,Enuresis,Occasional (29-5%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0000855,Insulin resistance,Occasional (29-5%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0000872,Hashimoto thyroiditis,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0000934,Chondrocalcinosis,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0000975,Hyperhidrosis,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001262,Excessive daytime somnolence,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001279,Syncope,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001657,Prolonged QT interval,Frequent (79-30%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001663,Ventricular fibrillation,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001698,Pericardial effusion,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001891,Iron deficiency anemia,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001947,Renal tubular acidosis,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001952,Glucose intolerance,Occasional (29-5%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001953,Diabetic ketoacidosis,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001959,Polydipsia,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001962,Palpitations,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001970,Tubulointerstitial nephritis,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001994,Renal Fanconi syndrome,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0001997,Gout,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002014,Diarrhea,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002019,Constipation,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002098,Respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002315,Headache,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002321,Vertigo,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002514,Cerebral calcification,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002619,Varicose veins,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002632,Low-to-normal blood pressure,Frequent (79-30%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002829,Arthralgia,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002894,Neoplasm of the pancreas,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002897,Parathyroid adenoma,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002917,Hypomagnesemia,Frequent (79-30%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0002918,Hypermagnesemia,Occasional (29-5%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0003201,Rhabdomyolysis,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0003326,Myalgia,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0003401,Paresthesia,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0003470,Paralysis,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0005135,Abnormal T-wave,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0005978,Type II diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0006789,Mitochondrial encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0007359,Focal-onset seizure,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0009800,Maternal diabetes,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0011736,Primary hyperaldosteronism,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0012248,Prolonged PR interval,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0012250,ST segment depression,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0012364,Decreased urinary potassium,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0025072,Prominent U wave,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0030083,Salt craving,Occasional (29-5%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0030880,Raynaud phenomenon,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0100324,Scleroderma,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0100647,Graves disease,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0100651,Type I diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0100785,Insomnia,Very rare (<4-1%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008547,Orphanet,358,ORPHA:358,68,HP:0200114,Metabolic alkalosis,Occasional (29-5%),TAS,,,,"[PMID:19508680, PMID:28003083, PMID:30596175, PMID:30867665]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0001765,Hammertoe,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0002936,Distal sensory impairment,Very frequent (99-80%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0003376,Steppage gait,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0003380,Decreased number of peripheral myelinated nerve fibers,Very frequent (99-80%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0003387,Decreased number of large peripheral myelinated nerve fibers,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0003390,Sensory axonal neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0003431,Decreased motor nerve conduction velocity,Very rare (<4-1%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0003447,Axonal loss,Very frequent (99-80%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0003482,EMG: axonal abnormality,Very frequent (99-80%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0003724,Shoulder girdle muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0007002,Motor axonal neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0007078,Decreased amplitude of sensory action potentials,Very frequent (99-80%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0007126,Proximal amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0007149,Distal upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0007233,Clusters of axonal regeneration,Excluded (0%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0007249,Decreased number of small peripheral myelinated nerve fibers,Occasional (29-5%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0008956,Proximal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0008959,Distal upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0008988,Pelvic girdle muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0009049,Peroneal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0009130,Hand muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0011916,Toe extensor amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0030237,Hand muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008548,Orphanet,98856,ORPHA:98856,33,HP:0040078,Axonal degeneration,Very frequent (99-80%),TAS,,,,"[PMID:21504497, PMID:22575637, PMID:23781959, PMID:29478606]",y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000044,Hypogonadotropic hypogonadism,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000194,Open mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000298,Mask-like facies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000498,Blepharitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000602,Ophthalmoplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0002997,Abnormality of the ulna,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0004050,Absent hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0004408,Abnormality of the sense of smell,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0005914,Aplasia/Hypoplasia involving the metacarpal bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0006501,Aplasia/Hypoplasia of the radius,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0007565,Multiple cafe-au-lait spots,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0009601,Aplasia/Hypoplasia of the thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0009751,Aplasia of the pectoralis major muscle,Frequent (79-30%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0009804,Tooth agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0010295,Aplasia/Hypoplasia of the tongue,Occasional (29-5%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0010628,Facial palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008549,Orphanet,570,ORPHA:570,42,HP:0100783,Breast aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008553,Orphanet,31709,ORPHA:31709,13,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:24370076, PMID:29285950, PMID:29334453]",y,y +GARD:0008553,Orphanet,31709,ORPHA:31709,13,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,"[PMID:24370076, PMID:29285950, PMID:29334453]",y,y +GARD:0008553,Orphanet,31709,ORPHA:31709,13,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:24370076, PMID:29285950, PMID:29334453]",y,y +GARD:0008553,Orphanet,31709,ORPHA:31709,13,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:24370076, PMID:29285950, PMID:29334453]",y,y +GARD:0008553,Orphanet,31709,ORPHA:31709,13,HP:0002305,Athetosis,Frequent (79-30%),TAS,,,,"[PMID:24370076, PMID:29285950, PMID:29334453]",y,y +GARD:0008553,Orphanet,31709,ORPHA:31709,13,HP:0002372,Normal interictal EEG,Very frequent (99-80%),TAS,,,,"[PMID:24370076, PMID:29285950, PMID:29334453]",y,y +GARD:0008553,Orphanet,31709,ORPHA:31709,13,HP:0002384,Focal impaired awareness seizure,Frequent (79-30%),TAS,,,,"[PMID:24370076, PMID:29285950, PMID:29334453]",y,y +GARD:0008553,Orphanet,31709,ORPHA:31709,13,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:24370076, PMID:29285950, PMID:29334453]",y,y +GARD:0008553,Orphanet,31709,ORPHA:31709,13,HP:0007166,Paroxysmal dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:24370076, PMID:29285950, PMID:29334453]",y,y +GARD:0008553,Orphanet,31709,ORPHA:31709,13,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:24370076, PMID:29285950, PMID:29334453]",y,y +GARD:0008553,Orphanet,31709,ORPHA:31709,13,HP:0011172,Complex febrile seizure,Occasional (29-5%),TAS,,,,"[PMID:24370076, PMID:29285950, PMID:29334453]",y,y +GARD:0008553,Orphanet,31709,ORPHA:31709,13,HP:0012002,Experiential epileptic aura,Occasional (29-5%),TAS,,,,"[PMID:24370076, PMID:29285950, PMID:29334453]",y,y +GARD:0008553,Orphanet,31709,ORPHA:31709,13,HP:0410263,Brain imaging abnormality,Excluded (0%),TAS,,,,"[PMID:24370076, PMID:29285950, PMID:29334453]",y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0000363,Abnormal earlobe morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0000387,Absent earlobe,Frequent (79-30%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0001852,Sandal gap,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0009804,Tooth agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0010579,Cone-shaped epiphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0011342,Mild global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008562,Orphanet,808,ORPHA:808,26,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008563,Orphanet,238606,ORPHA:238606,7,HP:0001337,Tremor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008563,Orphanet,238606,ORPHA:238606,7,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,,y,y +GARD:0008563,Orphanet,238606,ORPHA:238606,7,HP:0003011,Abnormality of the musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008563,Orphanet,238606,ORPHA:238606,7,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008563,Orphanet,238606,ORPHA:238606,7,HP:0003394,Muscle spasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008563,Orphanet,238606,ORPHA:238606,7,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008563,Orphanet,238606,ORPHA:238606,7,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0000821,Hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0000853,Goiter,Frequent (79-30%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0000872,Hashimoto thyroiditis,Very frequent (99-80%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0002181,Cerebral edema,Excluded (0%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0003470,Paralysis,Frequent (79-30%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0005318,Cerebral vasculitis,Very frequent (99-80%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0005991,Limited neck flexion,Very rare (<4-1%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0006846,Acute encephalopathy,Obligate (100%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008570,Orphanet,83601,ORPHA:83601,25,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:11158076, PMID:11835965, PMID:12949305, PMID:16476807, PMID:21511782, PMID:25540320]",y,y +GARD:0008573,Orphanet,219,ORPHA:219,6,HP:0002362,Shuffling gait,Frequent (79-30%),TAS,,,,[PMID:10735275],y,y +GARD:0008573,Orphanet,219,ORPHA:219,6,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,[PMID:10735275],y,y +GARD:0008573,Orphanet,219,ORPHA:219,6,HP:0008948,Proximal upper limb amyotrophy,Frequent (79-30%),TAS,,,,[PMID:10735275],y,y +GARD:0008573,Orphanet,219,ORPHA:219,6,HP:0008956,Proximal lower limb amyotrophy,Frequent (79-30%),TAS,,,,[PMID:10735275],y,y +GARD:0008573,Orphanet,219,ORPHA:219,6,HP:0009055,Generalized limb muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:10735275],y,y +GARD:0008573,Orphanet,219,ORPHA:219,6,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,[PMID:10735275],y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0001667,Right ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0002072,Chorea,Very rare (<4-1%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0002540,Inability to walk,Very rare (<4-1%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0002996,Limited elbow movement,Very rare (<4-1%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0003115,Abnormal EKG,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0003306,Spinal rigidity,Very rare (<4-1%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0003551,Difficulty climbing stairs,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0003691,Scapular winging,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0003722,Neck flexor weakness,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0005085,Limited knee flexion/extension,Very rare (<4-1%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0008800,Limited hip movement,Very rare (<4-1%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0008959,Distal upper limb muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0008981,Calf muscle hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0008997,Proximal muscle weakness in upper limbs,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0009046,Difficulty running,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0011712,Right bundle branch block,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0012664,Reduced ejection fraction,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0030051,Tip-toe gait,Very rare (<4-1%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0045054,Brachial plexus neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0100515,Pollakisuria,Very rare (<4-1%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008574,Orphanet,268,ORPHA:268,29,HP:0100748,Muscular edema,Occasional (29-5%),TAS,,,,"[PMID:10766988, PMID:19084402, PMID:20301480, PMID:23243261, PMID:29794729]",y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0008420,Punctate vertebral calcifications,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0010655,Epiphyseal stippling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008580,Orphanet,1914,ORPHA:1914,26,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000294,Low anterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000336,Prominent supraorbital ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000527,Long eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000885,Broad ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0001640,Cardiomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0001869,Deep plantar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0002673,Coxa valga,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0003300,Ovoid vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0004634,Cuboid-shaped vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0005616,Accelerated skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0007665,Curly eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0010059,Broad hallux phalanx,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0010109,Short hallux,Frequent (79-30%),TAS,,,,,y,y +GARD:0008585,Orphanet,1517,ORPHA:1517,38,HP:0012471,Thick vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0000289,Broad philtrum,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0001238,Slender finger,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0002778,Abnormal tracheal morphology,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0002876,Episodic tachypnea,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0004442,Sagittal craniosynostosis,Very frequent (99-80%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0006191,Deep palmar crease,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0008112,Plantar flexion contractures,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0009540,Contracture of the proximal interphalangeal joint of the 2nd finger,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0010487,Small hypothenar eminence,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0010621,Cutaneous syndactyly of toes,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0010721,Abnormal hair whorl,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008586,Orphanet,2872,ORPHA:2872,34,HP:0012478,Temporomandibular joint ankylosis,Very frequent (99-80%),TAS,,,,"[PMID:2624274, PMID:3582410, PMID:8592338, PMID:9415478]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0000725,Psychotic episodes,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0000818,Abnormality of the endocrine system,Very frequent (99-80%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0000820,Abnormality of the thyroid gland,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0001061,Acne,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0001348,Brisk reflexes,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0002149,Hyperuricemia,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0002310,Orofacial dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0002345,Action tremor,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0003124,Hypercholesterolemia,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0004438,Hyperostosis frontalis interna,Obligate (100%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0031589,Suicidal ideation,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0032245,Abnormal metabolism,Very frequent (99-80%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008593,Orphanet,77296,ORPHA:77296,30,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:23284007, PMID:27698159, PMID:32611657]",y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0000649,Abnormality of visual evoked potentials,Occasional (29-5%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0000662,Nyctalopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0000763,Sensory neuropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008595,Orphanet,96,ORPHA:96,28,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0002239,Gastrointestinal hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0005214,Intestinal obstruction,Frequent (79-30%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0006753,Neoplasm of the stomach,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0007378,Neoplasm of the gastrointestinal tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0007400,Irregular hyperpigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0100242,Sarcoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0100273,Neoplasm of the colon,Occasional (29-5%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0100723,Gastrointestinal stroma tumor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0100743,Neoplasm of the rectum,Occasional (29-5%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0100751,Esophageal neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0008598,Orphanet,44890,ORPHA:44890,18,HP:0100833,Neoplasm of the small intestine,Occasional (29-5%),TAS,,,,,y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0000185,Cleft soft palate,Occasional (29-5%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0000737,Irritability,Very frequent (99-80%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0001320,Cerebellar vermis hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0001339,Lissencephaly,Frequent (79-30%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0001522,Death in infancy,Very frequent (99-80%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0001992,Organic aciduria,Very frequent (99-80%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0002414,Spina bifida,Frequent (79-30%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0004331,Decreased skull ossification,Occasional (29-5%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0005968,Temperature instability,Frequent (79-30%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008606,Orphanet,99742,ORPHA:99742,25,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:20301539, PMID:20583149]",y,y +GARD:0008609,Orphanet,2032,ORPHA:2032,12,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,[PMID:21471066],y,y +GARD:0008609,Orphanet,2032,ORPHA:2032,12,HP:0002110,Bronchiectasis,Frequent (79-30%),TAS,,,,[PMID:21471066],y,y +GARD:0008609,Orphanet,2032,ORPHA:2032,12,HP:0002206,Pulmonary fibrosis,Frequent (79-30%),TAS,,,,[PMID:21471066],y,y +GARD:0008609,Orphanet,2032,ORPHA:2032,12,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,[PMID:21471066],y,y +GARD:0008609,Orphanet,2032,ORPHA:2032,12,HP:0006530,Abnormal pulmonary interstitial morphology,Very frequent (99-80%),TAS,,,,[PMID:21471066],y,y +GARD:0008609,Orphanet,2032,ORPHA:2032,12,HP:0010444,Pulmonary insufficiency,Occasional (29-5%),TAS,,,,[PMID:21471066],y,y +GARD:0008609,Orphanet,2032,ORPHA:2032,12,HP:0012735,Cough,Frequent (79-30%),TAS,,,,[PMID:21471066],y,y +GARD:0008609,Orphanet,2032,ORPHA:2032,12,HP:0025175,Honeycomb lung,Frequent (79-30%),TAS,,,,[PMID:21471066],y,y +GARD:0008609,Orphanet,2032,ORPHA:2032,12,HP:0025179,Ground-glass opacification,Frequent (79-30%),TAS,,,,[PMID:21471066],y,y +GARD:0008609,Orphanet,2032,ORPHA:2032,12,HP:0025390,Reticular pattern on pulmonary HRCT,Frequent (79-30%),TAS,,,,[PMID:21471066],y,y +GARD:0008609,Orphanet,2032,ORPHA:2032,12,HP:0030830,Crackles,Frequent (79-30%),TAS,,,,[PMID:21471066],y,y +GARD:0008609,Orphanet,2032,ORPHA:2032,12,HP:0100759,Clubbing of fingers,Frequent (79-30%),TAS,,,,[PMID:21471066],y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0001396,Cholestasis,Occasional (29-5%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0001743,Abnormality of the spleen,Frequent (79-30%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0001878,Hemolytic anemia,Very frequent (99-80%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0001891,Iron deficiency anemia,Frequent (79-30%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0001894,Thrombocytosis,Frequent (79-30%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0001923,Reticulocytosis,Frequent (79-30%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0001931,Hypochromic anemia,Very rare (<4-1%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0001935,Microcytic anemia,Very rare (<4-1%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0002597,Abnormality of the vasculature,Occasional (29-5%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0002754,Osteomyelitis,Frequent (79-30%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0003259,Elevated circulating creatinine concentration,Occasional (29-5%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0004870,Chronic hemolytic anemia,Obligate (100%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0005518,Increased mean corpuscular volume,Very rare (<4-1%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0008282,Unconjugated hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0010885,Avascular necrosis,Frequent (79-30%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0011904,Persistence of hemoglobin F,Occasional (29-5%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0011981,Pigment gallstones,Frequent (79-30%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0012418,Hypoxemia,Occasional (29-5%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0012531,Pain,Very frequent (99-80%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0025435,Increased circulating lactate dehydrogenase concentration,Occasional (29-5%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008614,Orphanet,232,ORPHA:232,25,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:1624972, PMID:3940552, PMID:7296040]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0000967,Petechiae,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0001028,Hemangioma,Very rare (<4-1%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0001871,Abnormality of blood and blood-forming tissues,Frequent (79-30%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0001894,Thrombocytosis,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0001977,Abnormal thrombosis,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0001978,Extramedullary hematopoiesis,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0003388,Easy fatigability,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0004326,Cachexia,Very rare (<4-1%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0004377,Hematological neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0004420,Arterial thrombosis,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0004447,Poikilocytosis,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0005561,Abnormality of bone marrow cell morphology,Very frequent (99-80%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0011134,Low-grade fever,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0012143,Abnormal megakaryocyte morphology,Frequent (79-30%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0025142,Constitutional symptom,Frequent (79-30%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0025435,Increased circulating lactate dehydrogenase concentration,Very rare (<4-1%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0030157,Flank pain,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0031020,Bone marrow hypercellularity,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008618,Orphanet,824,ORPHA:824,36,HP:0031364,Ecchymosis,Occasional (29-5%),TAS,,,,"[PMID:27830539, PMID:27870387, PMID:30683837, PMID:30805227, PMID:7436463, PMID:9766805]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0000539,Abnormality of refraction,Occasional (29-5%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0001098,Abnormal fundus morphology,Very frequent (99-80%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0007902,Vitreous hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0007906,Ocular hypertension,Occasional (29-5%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0008494,Inferior lens subluxation,Occasional (29-5%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0010920,Zonular cataract,Occasional (29-5%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0011499,Mydriasis,Occasional (29-5%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0011524,Iris melanoma,Frequent (79-30%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0012054,Choroidal melanoma,Very frequent (99-80%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0012055,Ciliary body melanoma,Frequent (79-30%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0012508,Metamorphopsia,Occasional (29-5%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0030786,Photopsia,Occasional (29-5%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0030800,Abnormal visual accommodation,Occasional (29-5%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0100533,Inflammatory abnormality of the eye,Very rare (<4-1%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008621,Orphanet,39044,ORPHA:39044,17,HP:0200026,Ocular pain,Very rare (<4-1%),TAS,,,,"[PMID:26645696, PMID:27800275, PMID:28101347]",y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0000010,Recurrent urinary tract infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0000246,Sinusitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0001881,Abnormal leukocyte morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0002110,Bronchiectasis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0003473,Fatigable weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0010515,Aplasia/Hypoplasia of the thymus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0100522,Thymoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008622,Orphanet,169105,ORPHA:169105,20,HP:0100721,Mediastinal lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008623,Orphanet,2521,ORPHA:2521,12,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008623,Orphanet,2521,ORPHA:2521,12,HP:0000176,Submucous cleft hard palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008623,Orphanet,2521,ORPHA:2521,12,HP:0000193,Bifid uvula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008623,Orphanet,2521,ORPHA:2521,12,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008623,Orphanet,2521,ORPHA:2521,12,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008623,Orphanet,2521,ORPHA:2521,12,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008623,Orphanet,2521,ORPHA:2521,12,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008623,Orphanet,2521,ORPHA:2521,12,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0008623,Orphanet,2521,ORPHA:2521,12,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0008623,Orphanet,2521,ORPHA:2521,12,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0008623,Orphanet,2521,ORPHA:2521,12,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0008623,Orphanet,2521,ORPHA:2521,12,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0000389,Chronic otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0001874,Abnormality of neutrophils,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0001882,Leukopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0003287,Abnormality of mitochondrial metabolism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0004430,Severe combined immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0005374,Cellular immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0010515,Aplasia/Hypoplasia of the thymus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0100806,Sepsis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008625,Orphanet,33355,ORPHA:33355,20,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000692,Tooth malposition,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0007325,Generalized dystonia,Occasional (29-5%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,[PMID:18284672],y,y +GARD:0008631,Orphanet,1598,ORPHA:1598,38,HP:0100625,Enlarged thorax,Frequent (79-30%),TAS,,,,[PMID:18284672],y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0001298,Encephalopathy,Obligate (100%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0002134,Abnormality of the basal ganglia,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0002143,Abnormality of the spinal cord,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0002181,Cerebral edema,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0002518,Abnormal periventricular white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0004305,Involuntary movements,Very rare (<4-1%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0006562,Viral hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0006597,Diaphragmatic paralysis,Very rare (<4-1%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0007103,Hypointensity of cerebral white matter on MRI,Very rare (<4-1%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0007204,Diffuse white matter abnormalities,Very frequent (99-80%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0007305,CNS demyelination,Very frequent (99-80%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0010843,EEG with focal slow activity,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0010845,EEG with generalized slow activity,Very frequent (99-80%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0011151,Atypical absence status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0011193,EEG with focal spikes,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0012302,Herpes simplex encephalitis,Very rare (<4-1%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0012486,Myelitis,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0012696,Abnormal thalamic MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0012747,Abnormal brainstem MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0020088,Post-vaccination measles,Very rare (<4-1%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0020089,Post-vaccination rubella,Very rare (<4-1%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0025373,Interictal EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0030857,Eye movement-induced pain,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0031179,Nuchal rigidity,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0031693,Severe Epstein Barr virus infection,Very rare (<4-1%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0031695,Severe parainfluenza infection,Very rare (<4-1%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0031696,Disseminated viral infection,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0032492,Anti-myelin oligodendrocyte glycoprotein antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0100653,Optic neuritis,Occasional (29-5%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0100786,Hypersomnia,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008639,Orphanet,83597,ORPHA:83597,53,HP:0200149,CSF lymphocytic pleiocytosis,Frequent (79-30%),TAS,,,,"[PMID:31340401, PMID:31371120]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0000512,Abnormal electroretinogram,Occasional (29-5%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0000539,Abnormality of refraction,Frequent (79-30%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0000572,Visual loss,Very rare (<4-1%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0000575,Scotoma,Frequent (79-30%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0000603,Central scotoma,Occasional (29-5%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0000610,Abnormal choroid morphology,Very rare (<4-1%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0001123,Visual field defect,Frequent (79-30%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0001133,Constriction of peripheral visual field,Frequent (79-30%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0007722,Retinal pigment epithelial atrophy,Occasional (29-5%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0007814,Retinal pigment epithelial mottling,Occasional (29-5%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0008046,Abnormal retinal vascular morphology,Very rare (<4-1%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0011531,Vitritis,Occasional (29-5%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0012377,Hemianopia,Occasional (29-5%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0030499,Macular drusen,Very rare (<4-1%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0030604,Abnormal fundus fluorescein angiography,Frequent (79-30%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0030644,Blind-spot enlargment,Frequent (79-30%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0030662,Vitreous inflammatory cells,Occasional (29-5%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0030786,Photopsia,Frequent (79-30%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008640,Orphanet,284454,ORPHA:284454,24,HP:0200057,Marcus Gunn pupil,Frequent (79-30%),TAS,,,,"[PMID:21056448, PMID:29572353, PMID:30042791, PMID:30578522, PMID:32796345]",y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0001195,Single umbilical artery,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0001734,Annular pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0001746,Asplenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0002092,Pulmonary arterial hypertension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0002566,Intestinal malrotation,Frequent (79-30%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0002580,Volvulus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0004383,Hypoplastic left heart,Frequent (79-30%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0006695,Atrioventricular canal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0010882,Pulmonary valve atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0011467,Absent gallbladder,Occasional (29-5%),TAS,,,,,y,y +GARD:0008644,Orphanet,210122,ORPHA:210122,23,HP:0100867,Duodenal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008653,Orphanet,90000,ORPHA:90000,8,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008653,Orphanet,90000,ORPHA:90000,8,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008653,Orphanet,90000,ORPHA:90000,8,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008653,Orphanet,90000,ORPHA:90000,8,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0008653,Orphanet,90000,ORPHA:90000,8,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,,y,y +GARD:0008653,Orphanet,90000,ORPHA:90000,8,HP:0200029,Vasculitis in the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008653,Orphanet,90000,ORPHA:90000,8,HP:0200036,Skin nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0008653,Orphanet,90000,ORPHA:90000,8,HP:0200037,Skin vesicle,Frequent (79-30%),TAS,,,,,y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0000110,Renal dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0000478,Abnormality of the eye,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0000528,Anophthalmia,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0000593,Abnormal anterior chamber morphology,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0001363,Craniosynostosis,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0001772,Talipes equinovalgus,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0001849,Foot oligodactyly,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0001873,Thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0002414,Spina bifida,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0002979,Bowing of the legs,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0002982,Tibial bowing,Frequent (79-30%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0002990,Fibular aplasia,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0002991,Abnormality of fibula morphology,Very frequent (99-80%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0003038,Fibular hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0003097,Short femur,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0003184,Decreased hip abduction,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0003274,Hypoplastic acetabulae,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0003365,Arthralgia of the hip,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0005085,Limited knee flexion/extension,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0005736,Short tibia,Frequent (79-30%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0006437,Disproportionate prominence of the femoral medial condyle,Frequent (79-30%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0006460,Increased laxity of ankles,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0009826,Limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0010219,Structural foot deformity,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0011849,Abnormal bone ossification,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0012165,Oligodactyly,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0030043,Hip subluxation,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0030772,Proximal femoral focal deficiency,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0031058,Impairment of activities of daily living,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0040069,Abnormal lower limb bone morphology,Frequent (79-30%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0040071,Abnormal morphology of ulna,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0045086,Knee joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0100257,Ectrodactyly,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0100559,Lower limb asymmetry,Frequent (79-30%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008659,Orphanet,93323,ORPHA:93323,47,HP:0100656,Thoracoabdominal wall defect,Very rare (<4-1%),TAS,,,,"[PMID:15083119, PMID:15754355, PMID:27227952, PMID:29744100, PMID:30269159, PMID:30875935]",y,y +GARD:0008661,Orphanet,2368,ORPHA:2368,3,HP:0001543,Gastroschisis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008661,Orphanet,2368,ORPHA:2368,3,HP:0011100,Intestinal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008661,Orphanet,2368,ORPHA:2368,3,HP:0100016,Abnormality of mesentery morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008663,Orphanet,114,ORPHA:114,10,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008663,Orphanet,114,ORPHA:114,10,HP:0000889,Abnormal clavicle morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008663,Orphanet,114,ORPHA:114,10,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008663,Orphanet,114,ORPHA:114,10,HP:0003019,Abnormality of the wrist,Occasional (29-5%),TAS,,,,,y,y +GARD:0008663,Orphanet,114,ORPHA:114,10,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008663,Orphanet,114,ORPHA:114,10,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008663,Orphanet,114,ORPHA:114,10,HP:0005916,Abnormal metacarpal morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0008663,Orphanet,114,ORPHA:114,10,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008663,Orphanet,114,ORPHA:114,10,HP:0009906,Aplasia/Hypoplasia of the earlobes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008663,Orphanet,114,ORPHA:114,10,HP:0009907,Attached earlobe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000391,Thickened helices,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000733,Motor stereotypy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000742,Self-mutilation,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0001647,Bicuspid aortic valve,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0001680,Coarctation of aorta,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002263,Exaggerated cupid's bow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0002779,Tracheomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0004415,Pulmonary artery stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0006288,Advanced eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0010804,Tented upper lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0008672,Orphanet,261494,ORPHA:261494,67,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008683,Orphanet,79235,ORPHA:79235,3,HP:0003265,Neonatal hyperbilirubinemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008683,Orphanet,79235,ORPHA:79235,3,HP:0006579,Prolonged neonatal jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008683,Orphanet,79235,ORPHA:79235,3,HP:0008282,Unconjugated hyperbilirubinemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0000083,Renal insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0000099,Glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0000554,Uveitis,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0000854,Thyroid adenoma,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0001025,Urticaria,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0001369,Arthritis,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0001402,Hepatocellular carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0001789,Hydrops fetalis,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0001888,Lymphopenia,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0001890,Autoimmune hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0001904,Neutropenia in presence of anti-neutropil antibodies,Frequent (79-30%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0001923,Reticulocytosis,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0001971,Hypersplenism,Frequent (79-30%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0001973,Autoimmune thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002113,Pulmonary infiltrates,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002206,Pulmonary fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002315,Headache,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002583,Colitis,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002671,Basal cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002725,Systemic lupus erythematosus,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002730,Chronic noninfectious lymphadenopathy,Very frequent (99-80%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002848,Decreased specific anti-polysaccharide antibody level,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002850,Decreased circulating total IgM,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002851,"Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells",Frequent (79-30%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002890,Thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002923,Rheumatoid factor positive,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0003212,Increased circulating IgE level,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0003237,Increased circulating IgG level,Frequent (79-30%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0003261,Increased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0003453,Antineutrophil antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0003613,Antiphospholipid antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0004315,Decreased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0004844,Coombs-positive hemolytic anemia,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0005263,Gastritis,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0005404,Increased B cell count,Frequent (79-30%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0005407,Decreased proportion of CD4-positive helper T cells,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0005528,Bone marrow hypocellularity,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0008069,Neoplasm of the skin,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0008209,Premature ovarian insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0010619,Fibroadenoma of the breast,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0011107,Recurrent aphthous stomatitis,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0012189,Hodgkin lymphoma,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0012190,T-cell lymphoma,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0012191,B-cell lymphoma,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0012490,Panniculitis,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0012539,Non-Hodgkin lymphoma,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0030080,Burkitt lymphoma,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0030782,Abnormal circulating interleukin concentration,Frequent (79-30%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0031020,Bone marrow hypercellularity,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0031392,Abnormal proportion of CD4-positive T cells,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0031393,Abnormal proportion of CD8-positive T cells,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0040126,Abnormal vitamin B12 level,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0100646,Thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0100648,Neoplasm of the tongue,Very rare (<4-1%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008686,Orphanet,3261,ORPHA:3261,67,HP:0100827,Lymphocytosis,Occasional (29-5%),TAS,,,,"[PMID:11418480, PMID:1386609, PMID:15767081, PMID:20301287, PMID:30958694, PMID:4165068, PMID:7540117, PMID:8929361, PMID:9028957]",y,y +GARD:0008698,Orphanet,53697,ORPHA:53697,7,HP:0000935,Thickened cortex of long bones,Very frequent (99-80%),TAS,,,,"[PMID:23047743, PMID:24776605]",y,y +GARD:0008698,Orphanet,53697,ORPHA:53697,7,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:23047743, PMID:24776605]",y,y +GARD:0008698,Orphanet,53697,ORPHA:53697,7,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:23047743, PMID:24776605]",y,y +GARD:0008698,Orphanet,53697,ORPHA:53697,7,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,"[PMID:23047743, PMID:24776605]",y,y +GARD:0008698,Orphanet,53697,ORPHA:53697,7,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,"[PMID:23047743, PMID:24776605]",y,y +GARD:0008698,Orphanet,53697,ORPHA:53697,7,HP:0007626,Mandibular osteomyelitis,Frequent (79-30%),TAS,,,,"[PMID:23047743, PMID:24776605]",y,y +GARD:0008698,Orphanet,53697,ORPHA:53697,7,HP:0012802,Broad jaw,Very frequent (99-80%),TAS,,,,"[PMID:23047743, PMID:24776605]",y,y +GARD:0008702,Orphanet,2134,ORPHA:2134,13,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:24548192, PMID:27422619]",y,y +GARD:0008702,Orphanet,2134,ORPHA:2134,13,HP:0000790,Hematuria,Very frequent (99-80%),TAS,,,,"[PMID:24548192, PMID:27422619]",y,y +GARD:0008702,Orphanet,2134,ORPHA:2134,13,HP:0001871,Abnormality of blood and blood-forming tissues,Very frequent (99-80%),TAS,,,,"[PMID:24548192, PMID:27422619]",y,y +GARD:0008702,Orphanet,2134,ORPHA:2134,13,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:24548192, PMID:27422619]",y,y +GARD:0008702,Orphanet,2134,ORPHA:2134,13,HP:0001919,Acute kidney injury,Very frequent (99-80%),TAS,,,,"[PMID:24548192, PMID:27422619]",y,y +GARD:0008702,Orphanet,2134,ORPHA:2134,13,HP:0001937,Microangiopathic hemolytic anemia,Very frequent (99-80%),TAS,,,,"[PMID:24548192, PMID:27422619]",y,y +GARD:0008702,Orphanet,2134,ORPHA:2134,13,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,"[PMID:24548192, PMID:27422619]",y,y +GARD:0008702,Orphanet,2134,ORPHA:2134,13,HP:0004431,Complement deficiency,Frequent (79-30%),TAS,,,,"[PMID:24548192, PMID:27422619]",y,y +GARD:0008702,Orphanet,2134,ORPHA:2134,13,HP:0005339,Abnormality of complement system,Frequent (79-30%),TAS,,,,"[PMID:24548192, PMID:27422619]",y,y +GARD:0008702,Orphanet,2134,ORPHA:2134,13,HP:0005356,Decreased serum complement factor I,Frequent (79-30%),TAS,,,,"[PMID:24548192, PMID:27422619]",y,y +GARD:0008702,Orphanet,2134,ORPHA:2134,13,HP:0005416,Decreased serum complement factor B,Frequent (79-30%),TAS,,,,"[PMID:24548192, PMID:27422619]",y,y +GARD:0008702,Orphanet,2134,ORPHA:2134,13,HP:0040229,Decreased level of thrombomodulin,Frequent (79-30%),TAS,,,,"[PMID:24548192, PMID:27422619]",y,y +GARD:0008702,Orphanet,2134,ORPHA:2134,13,HP:0045040,Abnormal lactate dehydrogenase level,Very frequent (99-80%),TAS,,,,"[PMID:24548192, PMID:27422619]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0000538,Pseudopapilledema,Very rare (<4-1%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0001297,Stroke,Frequent (79-30%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0001300,Parkinsonism,Very rare (<4-1%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0002273,Tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0002321,Vertigo,Very rare (<4-1%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0002326,Transient ischemic attack,Frequent (79-30%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0002381,Aphasia,Frequent (79-30%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0002385,Paraparesis,Occasional (29-5%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0003470,Paralysis,Frequent (79-30%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0005318,Cerebral vasculitis,Very frequent (99-80%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0007052,Multifocal cerebral white matter abnormalities,Frequent (79-30%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0007236,Recurrent subcortical infarcts,Frequent (79-30%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0010534,Transient global amnesia,Occasional (29-5%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0012229,CSF pleocytosis,Frequent (79-30%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0025142,Constitutional symptom,Very rare (<4-1%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0025456,Abnormal CSF protein level,Frequent (79-30%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0030588,Abnormal visual field test,Occasional (29-5%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008703,Orphanet,140989,ORPHA:140989,30,HP:0100576,Amaurosis fugax,Very rare (<4-1%),TAS,,,,"[PMID:16575852, PMID:22575778, PMID:25708615, PMID:26020379]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0000028,Cryptorchidism,Very rare (<4-1%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0000047,Hypospadias,Very rare (<4-1%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0000062,Ambiguous genitalia,Very rare (<4-1%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0001159,Syndactyly,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0001171,Split hand,Frequent (79-30%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0001762,Talipes equinovarus,Very frequent (99-80%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0001839,Split foot,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0001840,Metatarsus adductus,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0001849,Foot oligodactyly,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0002475,Myelomeningocele,Very rare (<4-1%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0002673,Coxa valga,Very rare (<4-1%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0002827,Hip dislocation,Very rare (<4-1%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0002937,Hemivertebrae,Very rare (<4-1%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0003974,Absent radius,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0004059,Radial club hand,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0004987,Mesomelic leg shortening,Frequent (79-30%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0005736,Short tibia,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0005892,Proximal tibial and fibular fusion,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0006380,Knee flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0006426,Rudimentary to absent tibiae,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0006460,Increased laxity of ankles,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0008368,Tarsal synostosis,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0009556,Absent tibia,Very frequent (99-80%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0010037,Aplasia of the 2nd metacarpal,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0010043,Aplasia of the 4th metacarpal,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0010442,Polydactyly,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0010554,Cutaneous finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0012165,Oligodactyly,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0012386,Absent hallux,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008707,Orphanet,93322,ORPHA:93322,33,HP:0030032,Partial absence of foot,Occasional (29-5%),TAS,,,,"[PMID:26791356, PMID:27277586, PMID:27909860, PMID:31078790]",y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0000201,Pierre-Robin sequence,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0000773,Short ribs,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0000946,Hypoplastic ilia,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0000969,Edema,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0001132,Lens subluxation,Occasional (29-5%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0002983,Micromelia,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0003026,Short long bone,Very frequent (99-80%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0004327,Abnormal vitreous humor morphology,Occasional (29-5%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0004605,Absent vertebral body mineralization,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0006543,Cardiorespiratory arrest,Occasional (29-5%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0008788,Delayed pubic bone ossification,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0008828,Delayed proximal femoral epiphyseal ossification,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0011849,Abnormal bone ossification,Very frequent (99-80%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0030290,Unossified sacrum,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008713,Orphanet,93296,ORPHA:93296,25,HP:0031096,Delayed vertebral ossification,Frequent (79-30%),TAS,,,,[PMID:31021589],y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0000703,Dentinogenesis imperfecta,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0002673,Coxa valga,Frequent (79-30%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0003278,Square pelvis bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0008717,Orphanet,166272,ORPHA:166272,22,HP:0010579,Cone-shaped epiphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0000510,Rod-cone dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0000556,Retinal dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0000773,Short ribs,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0000886,Deformed rib cage,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0000887,Cupped ribs,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0001216,Delayed ossification of carpal bones,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0001530,Mild postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0002812,Coxa vara,Frequent (79-30%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0002866,Hypoplastic iliac wing,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0002867,Abnormal ilium morphology,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0002943,Thoracic scoliosis,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0003086,Acromesomelia,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0003180,Flat acetabular roof,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0003375,Narrow greater sciatic notch,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0003411,Proximal femoral metaphyseal irregularity,Frequent (79-30%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0003521,Disproportionate short-trunk short stature,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0005257,Thoracic hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0006431,Proximal femoral metaphyseal abnormality,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0006589,Flaring of lower rib cage,Frequent (79-30%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0006603,"Flared, irregular rib ends",Frequent (79-30%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0006712,Aplasia/Hypoplasia of the ribs,Frequent (79-30%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0007641,Dyschromatopsia,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0007769,Peripheral retinal degeneration,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0008444,Posterior wedging of vertebral bodies,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0008515,Aplasia/Hypoplasia of the vertebrae,Frequent (79-30%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0008786,Iliac crest serration,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0008812,Flattened femoral head,Frequent (79-30%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0009824,Upper limb undergrowth,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0011947,Respiratory tract infection,Frequent (79-30%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0012774,Increased upper to lower segment ratio,Frequent (79-30%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0045027,Abnormality of the thoracic cavity,Very frequent (99-80%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008720,Orphanet,168549,ORPHA:168549,47,HP:0100864,Short femoral neck,Occasional (29-5%),TAS,,,,"[PMID:23371363, PMID:26974433]",y,y +GARD:0008721,Orphanet,98809,ORPHA:98809,9,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:11346027, PMID:24465263]",y,y +GARD:0008721,Orphanet,98809,ORPHA:98809,9,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:11346027, PMID:24465263]",y,y +GARD:0008721,Orphanet,98809,ORPHA:98809,9,HP:0002072,Chorea,Very frequent (99-80%),TAS,,,,"[PMID:11346027, PMID:24465263]",y,y +GARD:0008721,Orphanet,98809,ORPHA:98809,9,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,"[PMID:11346027, PMID:24465263]",y,y +GARD:0008721,Orphanet,98809,ORPHA:98809,9,HP:0002305,Athetosis,Very frequent (99-80%),TAS,,,,"[PMID:11346027, PMID:24465263]",y,y +GARD:0008721,Orphanet,98809,ORPHA:98809,9,HP:0002356,Writer's cramp,Occasional (29-5%),TAS,,,,"[PMID:11346027, PMID:24465263]",y,y +GARD:0008721,Orphanet,98809,ORPHA:98809,9,HP:0004305,Involuntary movements,Very frequent (99-80%),TAS,,,,"[PMID:11346027, PMID:24465263]",y,y +GARD:0008721,Orphanet,98809,ORPHA:98809,9,HP:0011157,Focal sensory seizure,Frequent (79-30%),TAS,,,,"[PMID:11346027, PMID:24465263]",y,y +GARD:0008721,Orphanet,98809,ORPHA:98809,9,HP:0100660,Dyskinesia,Very frequent (99-80%),TAS,,,,"[PMID:11346027, PMID:24465263]",y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0000211,Trismus,Occasional (29-5%),TAS,,,,[PMID:22967746],y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0000473,Torticollis,Occasional (29-5%),TAS,,,,[PMID:22967746],y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,[PMID:22967746],y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,[PMID:22967746],y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,[PMID:22967746],y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,[PMID:22967746],y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,[PMID:22967746],y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,[PMID:22967746],y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,[PMID:22967746],y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0002487,Hyperkinetic movements,Frequent (79-30%),TAS,,,,[PMID:22967746],y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0003324,Generalized muscle weakness,Occasional (29-5%),TAS,,,,[PMID:22967746],y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,[PMID:22967746],y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0007166,Paroxysmal dyskinesia,Very frequent (99-80%),TAS,,,,[PMID:22967746],y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0025401,Staring gaze,Occasional (29-5%),TAS,,,,[PMID:22967746],y,y +GARD:0008722,Orphanet,98810,ORPHA:98810,15,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,[PMID:22967746],y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0001877,Abnormal erythrocyte morphology,Frequent (79-30%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0001894,Thrombocytosis,Frequent (79-30%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0001972,Macrocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0002863,Myelodysplasia,Very frequent (99-80%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0004808,Acute myeloid leukemia,Occasional (29-5%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0011273,Anisocytosis,Occasional (29-5%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0011992,Abnormality of neutrophil morphology,Occasional (29-5%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0012129,Abnormality of bone marrow stromal cells,Occasional (29-5%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0012133,Erythroid hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0012143,Abnormal megakaryocyte morphology,Frequent (79-30%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0012148,Multiple lineage myelodysplasia,Occasional (29-5%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0031020,Bone marrow hypercellularity,Frequent (79-30%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0031035,Chronic infection,Occasional (29-5%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008723,Orphanet,86841,ORPHA:86841,18,HP:0031385,Megakaryocyte nucleus hypolobulation,Frequent (79-30%),TAS,,,,"[PMID:20658591, PMID:20733155, PMID:26001289, PMID:26075044, PMID:28631666]",y,y +GARD:0008732,Orphanet,98879,ORPHA:98879,14,HP:0000790,Hematuria,Very frequent (99-80%),TAS,,,,[PMID:20301668],y,y +GARD:0008732,Orphanet,98879,ORPHA:98879,14,HP:0001058,Poor wound healing,Very frequent (99-80%),TAS,,,,[PMID:20301668],y,y +GARD:0008732,Orphanet,98879,ORPHA:98879,14,HP:0002170,Intracranial hemorrhage,Very frequent (99-80%),TAS,,,,[PMID:20301668],y,y +GARD:0008732,Orphanet,98879,ORPHA:98879,14,HP:0003010,Prolonged bleeding time,Very frequent (99-80%),TAS,,,,[PMID:20301668],y,y +GARD:0008732,Orphanet,98879,ORPHA:98879,14,HP:0003645,Prolonged partial thromboplastin time,Very frequent (99-80%),TAS,,,,[PMID:20301668],y,y +GARD:0008732,Orphanet,98879,ORPHA:98879,14,HP:0004406,"Spontaneous, recurrent epistaxis",Very frequent (99-80%),TAS,,,,[PMID:20301668],y,y +GARD:0008732,Orphanet,98879,ORPHA:98879,14,HP:0004846,Prolonged bleeding after surgery,Very frequent (99-80%),TAS,,,,[PMID:20301668],y,y +GARD:0008732,Orphanet,98879,ORPHA:98879,14,HP:0005261,Joint hemorrhage,Very frequent (99-80%),TAS,,,,[PMID:20301668],y,y +GARD:0008732,Orphanet,98879,ORPHA:98879,14,HP:0006298,Prolonged bleeding after dental extraction,Very frequent (99-80%),TAS,,,,[PMID:20301668],y,y +GARD:0008732,Orphanet,98879,ORPHA:98879,14,HP:0011858,Reduced factor IX activity,Very frequent (99-80%),TAS,,,,[PMID:20301668],y,y +GARD:0008732,Orphanet,98879,ORPHA:98879,14,HP:0012233,Intramuscular hematoma,Very frequent (99-80%),TAS,,,,[PMID:20301668],y,y +GARD:0008732,Orphanet,98879,ORPHA:98879,14,HP:0012541,Cephalohematoma,Very frequent (99-80%),TAS,,,,[PMID:20301668],y,y +GARD:0008732,Orphanet,98879,ORPHA:98879,14,HP:0040232,Delayed onset bleeding,Very frequent (99-80%),TAS,,,,[PMID:20301668],y,y +GARD:0008732,Orphanet,98879,ORPHA:98879,14,HP:0400008,Menometrorrhagia,Very frequent (99-80%),TAS,,,,[PMID:20301668],y,y +GARD:0008737,Orphanet,33208,ORPHA:33208,3,HP:0001262,Excessive daytime somnolence,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008737,Orphanet,33208,ORPHA:33208,3,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008737,Orphanet,33208,ORPHA:33208,3,HP:0100786,Hypersomnia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0001362,Calvarial skull defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0001881,Abnormal leukocyte morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0004331,Decreased skull ossification,Frequent (79-30%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0006619,Anterior rib punctate calcifications,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0008890,Severe short-limb dwarfism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0009106,Abnormal pelvis bone ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0011849,Abnormal bone ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0100569,Abnormally ossified vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008754,Orphanet,1426,ORPHA:1426,18,HP:0100602,Preeclampsia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008755,Orphanet,1135,ORPHA:1135,12,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008755,Orphanet,1135,ORPHA:1135,12,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0008755,Orphanet,1135,ORPHA:1135,12,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0008755,Orphanet,1135,ORPHA:1135,12,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0008755,Orphanet,1135,ORPHA:1135,12,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0008755,Orphanet,1135,ORPHA:1135,12,HP:0000453,Choanal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0008755,Orphanet,1135,ORPHA:1135,12,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008755,Orphanet,1135,ORPHA:1135,12,HP:0000632,Lacrimation abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0008755,Orphanet,1135,ORPHA:1135,12,HP:0004408,Abnormality of the sense of smell,Frequent (79-30%),TAS,,,,,y,y +GARD:0008755,Orphanet,1135,ORPHA:1135,12,HP:0009804,Tooth agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0008755,Orphanet,1135,ORPHA:1135,12,HP:0009924,Aplasia/Hypoplasia involving the nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008755,Orphanet,1135,ORPHA:1135,12,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0000467,Neck muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0002300,Mutism,Very frequent (99-80%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0002445,Tetraplegia,Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0002788,Recurrent upper respiratory tract infections,Very frequent (99-80%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0003431,Decreased motor nerve conduction velocity,Very frequent (99-80%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0003444,EMG: chronic denervation signs,Very frequent (99-80%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0003537,Hypouricemia,Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0004887,Respiratory failure requiring assisted ventilation,Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0007258,Severe demyelination of the white matter,Very frequent (99-80%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0007377,Abnormality of somatosensory evoked potentials,Very frequent (99-80%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0008311,Spinal cord posterior columns myelin loss,Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0008527,Congenital sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0011185,EEG with focal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0011476,Profound sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0012389,Appendicular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0030272,Abnormal erythrocyte enzyme level,Very frequent (99-80%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0008756,Orphanet,1187,ORPHA:1187,30,HP:0032169,Severe infection,Very frequent (99-80%),TAS,,,,"[PMID:20301738, PMID:8498830]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0000117,Renal phosphate wasting,Very frequent (99-80%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0001943,Hypoglycemia,Very rare (<4-1%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0002049,Proximal renal tubular acidosis,Very frequent (99-80%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0002148,Hypophosphatemia,Frequent (79-30%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0002150,Hypercalciuria,Occasional (29-5%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0002206,Pulmonary fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0002659,Increased susceptibility to fractures,Frequent (79-30%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0002749,Osteomalacia,Frequent (79-30%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0002900,Hypokalemia,Frequent (79-30%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0002909,Generalized aminoaciduria,Very frequent (99-80%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0003076,Glycosuria,Very frequent (99-80%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0003081,Increased urinary potassium,Frequent (79-30%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0003126,Low-molecular-weight proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0003149,Hyperuricosuria,Very frequent (99-80%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0003234,Decreased plasma carnitine,Frequent (79-30%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0003537,Hypouricemia,Frequent (79-30%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0003646,Bicarbonaturia,Very frequent (99-80%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0004910,Bicarbonate-wasting renal tubular acidosis,Very frequent (99-80%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0004912,Hypophosphatemic rickets,Frequent (79-30%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0004918,Hyperchloremic metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0012606,Renal sodium wasting,Frequent (79-30%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009118,Orphanet,3337,ORPHA:3337,28,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:30454741, PMID:31474092, PMID:33283647]",y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000046,Small scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000143,Rectovaginal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000162,Glossoptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000204,Cleft upper lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000294,Low anterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000370,Abnormality of the middle ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000561,Absent eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000625,Eyelid coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000643,Blepharospasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000778,Hypoplasia of the thymus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000834,Abnormality of the adrenal glands,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0000925,Abnormality of the vertebral column,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0001595,Abnormal hair morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0002006,Facial cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0002357,Dysphasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0004348,Abnormality of bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0005701,Multiple enchondromatosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0005990,Thyroid hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0006482,Abnormality of dental morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0009795,Branchial fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0009804,Tooth agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0010807,Open bite,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0011219,Short face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0011386,Narrow internal auditory canal,Frequent (79-30%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009124,Orphanet,861,ORPHA:861,61,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0000171,Microglossia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0001291,Abnormal cranial nerve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0001360,Holoprosencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0001696,Situs inversus totalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0009914,Cyclopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0009924,Aplasia/Hypoplasia involving the nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0009939,Mandibular aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0011386,Narrow internal auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0100596,Absent nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0100663,Synotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009126,Orphanet,990,ORPHA:990,19,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0001047,Atopic dermatitis,Occasional (29-5%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0001880,Eosinophilia,Very frequent (99-80%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0002243,Protein-losing enteropathy,Occasional (29-5%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0002570,Steatorrhea,Frequent (79-30%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0002573,Hematochezia,Occasional (29-5%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0003193,Allergic rhinitis,Frequent (79-30%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0003565,Elevated erythrocyte sedimentation rate,Occasional (29-5%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0011024,Abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009142,Orphanet,2070,ORPHA:2070,21,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:26075112, PMID:26358020, PMID:26770900]",y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000176,Submucous cleft hard palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000391,Thickened helices,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000499,Abnormal eyelash morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000637,Long palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000974,Hyperextensible skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0001003,Multiple lentigines,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0001048,Cavernous hemangioma,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0001531,Failure to thrive in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0001582,Redundant skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0001631,Atrial septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0001642,Pulmonic stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0001654,Abnormal heart valve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0002217,Slow-growing hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0002299,Brittle hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0002967,Cubitus valgus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0002997,Abnormality of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0006191,Deep palmar crease,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0007392,Excessive wrinkled skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0007440,Generalized hyperpigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0007565,Multiple cafe-au-lait spots,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0008064,Ichthyosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0008391,Dystrophic fingernails,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0009891,Underdeveloped supraorbital ridges,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0010669,Hypoplasia of the zygomatic bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0012719,Functional abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009146,Orphanet,1340,ORPHA:1340,79,HP:0200102,Sparse or absent eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0000027,Azoospermia,Occasional (29-5%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0000033,"Ambiguous genitalia, male",Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0000037,Male pseudohermaphroditism,Occasional (29-5%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0000061,"Ambiguous genitalia, female",Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0000127,Renal salt wasting,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0000808,Penoscrotal hypospadias,Occasional (29-5%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0000848,Increased circulating renin level,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0001944,Dehydration,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0001998,Neonatal hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0002153,Hyperkalemia,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0004319,Decreased circulating aldosterone level,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0008163,Decreased circulating cortisol level,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0008258,Congenital adrenal hyperplasia,Very frequent (99-80%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0008665,Clitoral hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0008730,"Female external genitalia in individual with 46,XY karyotype",Occasional (29-5%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0011749,Adrenocorticotropic hormone excess,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0012041,Decreased fertility in males,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0012412,Premature adrenarche,Occasional (29-5%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0012768,Neonatal asphyxia,Occasional (29-5%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0012881,Abnormal labia majora morphology,Occasional (29-5%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0025356,Psychomotor retardation,Occasional (29-5%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0025380,Increased circulating androstenedione concentration,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0030088,Increased serum testosterone level,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0031213,Elevated circulating 17-hydroxyprogesterone,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0040171,Decreased serum testosterone concentration,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009152,Orphanet,90791,ORPHA:90791,36,HP:0500022,Abnormal circulating dehydroepiandrosterone concentration,Frequent (79-30%),TAS,,,,"[PMID:26290012, PMID:31950145, PMID:33415088]",y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:10573017],y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,[PMID:10573017],y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,[PMID:10573017],y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,[PMID:10573017],y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0000692,Tooth malposition,Frequent (79-30%),TAS,,,,[PMID:10573017],y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,[PMID:10573017],y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:10573017],y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:10573017],y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,[PMID:10573017],y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0002231,Sparse body hair,Frequent (79-30%),TAS,,,,[PMID:10573017],y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,[PMID:10573017],y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0002546,Incomprehensible speech,Frequent (79-30%),TAS,,,,[PMID:10573017],y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:10573017],y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,[PMID:10573017],y,y +GARD:0009156,Orphanet,85274,ORPHA:85274,15,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,[PMID:10573017],y,y +GARD:0009157,Orphanet,85273,ORPHA:85273,12,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0009157,Orphanet,85273,ORPHA:85273,12,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009157,Orphanet,85273,ORPHA:85273,12,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009157,Orphanet,85273,ORPHA:85273,12,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0009157,Orphanet,85273,ORPHA:85273,12,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0009157,Orphanet,85273,ORPHA:85273,12,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0009157,Orphanet,85273,ORPHA:85273,12,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0009157,Orphanet,85273,ORPHA:85273,12,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009157,Orphanet,85273,ORPHA:85273,12,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009157,Orphanet,85273,ORPHA:85273,12,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009157,Orphanet,85273,ORPHA:85273,12,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009157,Orphanet,85273,ORPHA:85273,12,HP:0100335,Non-midline cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0000214,Lip telangiectasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0000360,Tinnitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0001004,Lymphedema,Frequent (79-30%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0001071,Angiokeratoma corporis diffusum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0002321,Vertigo,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0007428,Telangiectasia of the oral mucosa,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0007759,Opacification of the corneal stroma,Frequent (79-30%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009161,Orphanet,79280,ORPHA:79280,18,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0000446,Narrow nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0000556,Retinal dystrophy,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0000637,Long palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0001795,Hyperconvex nail,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0001880,Eosinophilia,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0002655,Spondyloepiphyseal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0002656,Epiphyseal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0003273,Hip contracture,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0004625,Biconvex vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0005041,Irregular capital femoral epiphysis,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0005419,Decreased T cell activation,Excluded (0%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0006532,Recurrent pneumonia,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0008804,Broad femoral head,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0008828,Delayed proximal femoral epiphyseal ossification,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0011231,Prominent eyelashes,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0012817,Noncompaction cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009163,Orphanet,353298,ORPHA:353298,39,HP:0410170,Hippocampal atrophy,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10905663, PMID:11293748, PMID:21910238, PMID:26522830]",y,y +GARD:0009170,Orphanet,55654,ORPHA:55654,6,HP:0000653,Sparse eyelashes,Very frequent (99-80%),TAS,,,,[PMID:20393562],y,y +GARD:0009170,Orphanet,55654,ORPHA:55654,6,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,[PMID:20393562],y,y +GARD:0009170,Orphanet,55654,ORPHA:55654,6,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,[PMID:20393562],y,y +GARD:0009170,Orphanet,55654,ORPHA:55654,6,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,[PMID:20393562],y,y +GARD:0009170,Orphanet,55654,ORPHA:55654,6,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,[PMID:20393562],y,y +GARD:0009170,Orphanet,55654,ORPHA:55654,6,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,[PMID:20393562],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0000183,Difficulty in tongue movements,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0000338,Hypomimic face,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0000511,Vertical supranuclear gaze palsy,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0000514,Slow saccadic eye movements,Very frequent (99-80%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0000605,Supranuclear gaze palsy,Very frequent (99-80%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0000643,Blepharospasm,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0000658,Eyelid apraxia,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0001300,Parkinsonism,Very frequent (99-80%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0001945,Fever,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0002063,Rigidity,Very frequent (99-80%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0002067,Bradykinesia,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0002367,Visual hallucinations,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0002395,Lower limb hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0002425,Anarthria,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0002493,Upper motor neuron dysfunction,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0003324,Generalized muscle weakness,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0007083,Hyperactive patellar reflex,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0007350,Hyperreflexia in upper limbs,Very frequent (99-80%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0008969,Leg muscle stiffness,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0010553,Oculogyric crisis,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0011446,Abnormality of higher mental function,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0025403,Stooped posture,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0031008,Lingual dystonia,Occasional (29-5%),TAS,,,,[PMID:15986421],y,y +GARD:0009174,Orphanet,306674,ORPHA:306674,45,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,[PMID:15986421],y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0000011,Neurogenic bladder,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0000338,Hypomimic face,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0000514,Slow saccadic eye movements,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0001300,Parkinsonism,Obligate (100%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0002362,Shuffling gait,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0002367,Visual hallucinations,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0007256,Abnormal pyramidal sign,Obligate (100%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0011960,Substantia nigra gliosis,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0031435,Monotonic speech,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0100315,Lewy bodies,Occasional (29-5%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009175,Orphanet,171695,ORPHA:171695,25,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:11261505, PMID:18513678, PMID:942621]",y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,[PMID:21532836],y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0001061,Acne,Very frequent (99-80%),TAS,,,,[PMID:21532836],y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,[PMID:21532836],y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,[PMID:21532836],y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,[PMID:21532836],y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,[PMID:21532836],y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,[PMID:21532836],y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,[PMID:21532836],y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,[PMID:21532836],y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0012649,Increased inflammatory response,Occasional (29-5%),TAS,,,,[PMID:21532836],y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0100280,Crohn's disease,Occasional (29-5%),TAS,,,,[PMID:21532836],y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0100614,Myositis,Occasional (29-5%),TAS,,,,[PMID:21532836],y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0100651,Type I diabetes mellitus,Occasional (29-5%),TAS,,,,[PMID:21532836],y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0200039,Pustule,Very frequent (99-80%),TAS,,,,[PMID:21532836],y,y +GARD:0009176,Orphanet,69126,ORPHA:69126,15,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,[PMID:21532836],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0000713,Agitation,Frequent (79-30%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0003241,External genital hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0009748,Large earlobe,Very frequent (99-80%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:10482947],y,y +GARD:0009178,Orphanet,85282,ORPHA:85282,25,HP:0012471,Thick vermilion border,Very frequent (99-80%),TAS,,,,[PMID:10482947],y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0000464,Abnormality of the neck,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0001225,Wrist swelling,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0001384,Abnormal hip joint morphology,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0002515,Waddling gait,Very frequent (99-80%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0002655,Spondyloepiphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0002812,Coxa vara,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0002815,Abnormality of the knee,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0002867,Abnormal ilium morphology,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0002923,Rheumatoid factor positive,Excluded (0%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0002970,Genu varum,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0003043,Abnormal shoulder morphology,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0003301,Irregular vertebral endplates,Very frequent (99-80%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0003370,Flat capital femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0003371,Enlargement of the proximal femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0003423,Thoracolumbar kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0004267,Narrow small joints of the hand,Very frequent (99-80%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0004568,Beaking of vertebral bodies,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0004582,Irregularity of vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0004603,Hyperconvex vertebral body endplates,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0005195,Polyarticular arthropathy,Very frequent (99-80%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0006247,Enlarged interphalangeal joints,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0006256,Abnormality of hand joint mobility,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0006429,Broad femoral neck,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0008422,Vertebral wedging,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0008833,Irregular acetabular roof,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0009473,Joint contracture of the hand,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0010580,Enlarged epiphyses,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0011406,Infancy onset short-trunk short stature,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0012385,Camptodactyly,Frequent (79-30%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0025021,Abnormal erythrocyte sedimentation rate,Excluded (0%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0025477,Periarticular calcification,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0032436,Abnormal C-reactive protein level,Excluded (0%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0040160,Generalized osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009184,Orphanet,1159,ORPHA:1159,45,HP:0100864,Short femoral neck,Occasional (29-5%),TAS,,,,"[PMID:21993478, PMID:26610319]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0000615,Abnormal pupil morphology,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0000762,Decreased nerve conduction velocity,Very frequent (99-80%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0001171,Split hand,Occasional (29-5%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0001765,Hammertoe,Occasional (29-5%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0002522,Areflexia of lower limbs,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0002600,Hyporeflexia of lower limbs,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0002936,Distal sensory impairment,Very frequent (99-80%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0003376,Steppage gait,Occasional (29-5%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0007108,Demyelinating peripheral neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0008110,Equinovarus deformity,Occasional (29-5%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0008124,Talipes calcaneovarus,Occasional (29-5%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0008944,Distal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0008962,Calf muscle hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0009049,Peroneal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0009130,Hand muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0009473,Joint contracture of the hand,Occasional (29-5%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0009916,Anisocoria,Occasional (29-5%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0010829,Impaired temperature sensation,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0010830,Impaired tactile sensation,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0010832,Abnormality of pain sensation,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0011476,Profound sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0011727,Peroneal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0012074,Tonic pupil,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0012391,Hyporeflexia of upper limbs,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0030211,Slow pupillary light response,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0030237,Hand muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009190,Orphanet,90658,ORPHA:90658,40,HP:0031006,Acroparesthesia,Frequent (79-30%),TAS,,,,"[PMID:11920834, PMID:27774063]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0000609,Optic nerve hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0000762,Decreased nerve conduction velocity,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0002346,Head tremor,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0002378,Hand tremor,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0002403,Positive Romberg sign,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0002460,Distal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0002495,Impaired vibratory sensation,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0002540,Inability to walk,Very rare (<4-1%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0003376,Steppage gait,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0003387,Decreased number of large peripheral myelinated nerve fibers,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0003474,Somatic sensory dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0003691,Scapular winging,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0004463,Absent brainstem auditory responses,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0007141,Sensorimotor neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0007149,Distal upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0007220,Demyelinating motor neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0007327,Mixed demyelinating and axonal polyneuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0008944,Distal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0008956,Proximal lower limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0008994,Proximal muscle weakness in lower limbs,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0008997,Proximal muscle weakness in upper limbs,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0009130,Hand muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0010831,Impaired proprioception,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0010873,Cervical spinal cord atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0011402,Demyelinating sensory neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0012452,Restless legs,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0012473,Tongue atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0012785,Flexion contracture of finger,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0030237,Hand muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0030319,Weakness of facial musculature,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009191,Orphanet,101085,ORPHA:101085,50,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:27088055, PMID:28501821, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0000762,Decreased nerve conduction velocity,Very rare (<4-1%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0001884,Talipes calcaneovalgus,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0003376,Steppage gait,Occasional (29-5%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0003477,Peripheral axonal neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0003484,Upper limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0007141,Sensorimotor neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0007220,Demyelinating motor neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0007340,Lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0011402,Demyelinating sensory neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0012896,Abnormal motor evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0030235,Extremely elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009193,Orphanet,99939,ORPHA:99939,24,HP:0200101,Decreased/absent ankle reflexes,Frequent (79-30%),TAS,,,,"[PMID:20301532, PMID:24887401, PMID:31574566]",y,y +GARD:0009194,Orphanet,99940,ORPHA:99940,12,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,[PMID:11528513],y,y +GARD:0009194,Orphanet,99940,ORPHA:99940,12,HP:0001762,Talipes equinovarus,Very frequent (99-80%),TAS,,,,[PMID:11528513],y,y +GARD:0009194,Orphanet,99940,ORPHA:99940,12,HP:0003376,Steppage gait,Very frequent (99-80%),TAS,,,,[PMID:11528513],y,y +GARD:0009194,Orphanet,99940,ORPHA:99940,12,HP:0003444,EMG: chronic denervation signs,Very frequent (99-80%),TAS,,,,[PMID:11528513],y,y +GARD:0009194,Orphanet,99940,ORPHA:99940,12,HP:0003445,EMG: neuropathic changes,Very frequent (99-80%),TAS,,,,[PMID:11528513],y,y +GARD:0009194,Orphanet,99940,ORPHA:99940,12,HP:0003477,Peripheral axonal neuropathy,Very frequent (99-80%),TAS,,,,[PMID:11528513],y,y +GARD:0009194,Orphanet,99940,ORPHA:99940,12,HP:0007289,Limb fasciculations,Very frequent (99-80%),TAS,,,,[PMID:11528513],y,y +GARD:0009194,Orphanet,99940,ORPHA:99940,12,HP:0007328,Impaired pain sensation,Very frequent (99-80%),TAS,,,,[PMID:11528513],y,y +GARD:0009194,Orphanet,99940,ORPHA:99940,12,HP:0007340,Lower limb muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:11528513],y,y +GARD:0009194,Orphanet,99940,ORPHA:99940,12,HP:0008944,Distal lower limb amyotrophy,Very frequent (99-80%),TAS,,,,[PMID:11528513],y,y +GARD:0009194,Orphanet,99940,ORPHA:99940,12,HP:0009129,Upper limb amyotrophy,Very frequent (99-80%),TAS,,,,[PMID:11528513],y,y +GARD:0009194,Orphanet,99940,ORPHA:99940,12,HP:0010829,Impaired temperature sensation,Very frequent (99-80%),TAS,,,,[PMID:11528513],y,y +GARD:0009199,Orphanet,99944,ORPHA:99944,10,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:18231710, PMID:21753178]",y,y +GARD:0009199,Orphanet,99944,ORPHA:99944,10,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:18231710, PMID:21753178]",y,y +GARD:0009199,Orphanet,99944,ORPHA:99944,10,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:18231710, PMID:21753178]",y,y +GARD:0009199,Orphanet,99944,ORPHA:99944,10,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:18231710, PMID:21753178]",y,y +GARD:0009199,Orphanet,99944,ORPHA:99944,10,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:18231710, PMID:21753178]",y,y +GARD:0009199,Orphanet,99944,ORPHA:99944,10,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:18231710, PMID:21753178]",y,y +GARD:0009199,Orphanet,99944,ORPHA:99944,10,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:18231710, PMID:21753178]",y,y +GARD:0009199,Orphanet,99944,ORPHA:99944,10,HP:0009130,Hand muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:18231710, PMID:21753178]",y,y +GARD:0009199,Orphanet,99944,ORPHA:99944,10,HP:0011096,Peripheral demyelination,Frequent (79-30%),TAS,,,,"[PMID:18231710, PMID:21753178]",y,y +GARD:0009199,Orphanet,99944,ORPHA:99944,10,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:18231710, PMID:21753178]",y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0000183,Difficulty in tongue movements,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0000557,Buphthalmos,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0001026,Penetrating foot ulcers,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0001087,Developmental glaucoma,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0001605,Vocal cord paralysis,Frequent (79-30%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0002522,Areflexia of lower limbs,Very frequent (99-80%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0002792,Reduced vital capacity,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0004336,Myelin outfoldings,Very frequent (99-80%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0007010,Poor fine motor coordination,Very frequent (99-80%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0007230,Decreased distal sensory nerve action potential,Very frequent (99-80%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0007340,Lower limb muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0008959,Distal upper limb muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0008997,Proximal muscle weakness in upper limbs,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0012046,Areflexia of upper limbs,Frequent (79-30%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0012473,Tongue atrophy,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0030237,Hand muscle weakness,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009200,Orphanet,99956,ORPHA:99956,40,HP:0030319,Weakness of facial musculature,Occasional (29-5%),TAS,,,,[PMID:31070812],y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0000183,Difficulty in tongue movements,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0000587,Abnormality of the optic nerve,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0001308,Tongue fasciculations,Frequent (79-30%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0001604,Vocal cord paresis,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0001765,Hammertoe,Frequent (79-30%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0002346,Head tremor,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0002403,Positive Romberg sign,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0002791,Hypoventilation,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0003380,Decreased number of peripheral myelinated nerve fibers,Very frequent (99-80%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0003431,Decreased motor nerve conduction velocity,Very frequent (99-80%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0003444,EMG: chronic denervation signs,Very frequent (99-80%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0004302,Functional motor deficit,Very frequent (99-80%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0006886,Impaired distal vibration sensation,Frequent (79-30%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0007108,Demyelinating peripheral neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0007141,Sensorimotor neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0007209,Facial paralysis,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0007695,Abnormal pupillary light reflex,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0007994,Peripheral visual field loss,Very rare (<4-1%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0008081,Pes valgus,Very rare (<4-1%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0008443,Spinal deformities,Frequent (79-30%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0009916,Anisocoria,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0010871,Sensory ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0012473,Tongue atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0030319,Weakness of facial musculature,Occasional (29-5%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009201,Orphanet,99949,ORPHA:99949,49,HP:0100661,Trigeminal neuralgia,Very rare (<4-1%),TAS,,,,"[PMID:20301514, PMID:28981955]",y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0000556,Retinal dystrophy,Occasional (29-5%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0000819,Diabetes mellitus,Very frequent (99-80%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0001695,Cardiac arrest,Occasional (29-5%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0001889,Megaloblastic anemia,Very frequent (99-80%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:20301459],y,y +GARD:0009210,Orphanet,49827,ORPHA:49827,20,HP:0006671,Paroxysmal atrial tachycardia,Occasional (29-5%),TAS,,,,[PMID:20301459],y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0000151,Aplasia of the uterus,Frequent (79-30%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0001180,Hand oligodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0001362,Calvarial skull defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0001849,Foot oligodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0002164,Nail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0002984,Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0002986,Radial bowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0002990,Fibular aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0002992,Abnormality of tibia morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0003041,Humeroradial synostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0003498,Disproportionate short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0003982,Aplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0008517,Aplasia/Hypoplasia of the sacrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0009103,Aplasia/Hypoplasia involving the pelvis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009212,Orphanet,2879,ORPHA:2879,31,HP:0100257,Ectrodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009217,Orphanet,86914,ORPHA:86914,2,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009217,Orphanet,86914,ORPHA:86914,2,HP:0100659,Abnormal cerebral vascular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009225,Orphanet,1412,ORPHA:1412,3,HP:0003028,Abnormality of the ankles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009225,Orphanet,1412,ORPHA:1412,3,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009225,Orphanet,1412,ORPHA:1412,3,HP:0008368,Tarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0000104,Renal agenesis,Obligate (100%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0000122,Unilateral renal agenesis,Frequent (79-30%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0002009,Potter facies,Occasional (29-5%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0008684,Aplasia/hypoplasia of the uterus,Occasional (29-5%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0010476,Aplasia/Hypoplasia of the bladder,Occasional (29-5%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0010958,Bilateral renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0012300,Ureteral agenesis,Frequent (79-30%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009228,Orphanet,411709,ORPHA:411709,16,HP:0012873,Absent vas deferens,Occasional (29-5%),TAS,,,,"[PMID:20984673, PMID:22698282, PMID:25053522]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0000011,Neurogenic bladder,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0000709,Psychosis,Very rare (<4-1%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0000712,Emotional lability,Very rare (<4-1%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0001274,Agenesis of corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0001338,Partial agenesis of the corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0001612,Weak cry,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0002179,Opisthotonus,Very rare (<4-1%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0002385,Paraparesis,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0002410,Aqueductal stenosis,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0002475,Myelomeningocele,Frequent (79-30%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0002512,Brain stem compression,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0002539,Cortical dysplasia,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0003484,Upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0005348,Inspiratory stridor,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0009130,Hand muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0010550,Paraplegia,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0011441,Abnormality of the medulla oblongata,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009232,Orphanet,1136,ORPHA:1136,42,HP:0040010,Small posterior fossa,Occasional (29-5%),TAS,,,,"[PMID:15209488, PMID:16918056, PMID:25191780, PMID:25890237]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0000360,Tinnitus,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0001293,Cranial nerve compression,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0001437,Abnormality of the musculature of the lower limbs,Occasional (29-5%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0001605,Vocal cord paralysis,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0002196,Myelopathy,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0002331,Recurrent paroxysmal headache,Very frequent (99-80%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0002512,Brain stem compression,Occasional (29-5%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0002516,Increased intracranial pressure,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0002949,Fused cervical vertebrae,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0003396,Syringomyelia,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0004602,Cervical C2/C3 vertebral fusion,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0004608,Anteriorly placed odontoid process,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0005758,Basilar impression,Occasional (29-5%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0006824,Cranial nerve paralysis,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0007067,Distal peripheral sensory neuropathy,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0007099,Chiari type I malformation,Obligate (100%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0008615,Adult onset sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0009591,Abnormality of the vestibulocochlear nerve,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0010536,Central sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0010558,Abnormality of the clivus,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0010825,Abnormality of the eleventh cranial nerve,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0010826,Abnormality of the twelfth cranial nerve,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0011389,Functional abnormality of the inner ear,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0012046,Areflexia of upper limbs,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0012366,Basilar invagination,Occasional (29-5%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0012534,Dysesthesia,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0025258,Stiff neck,Frequent (79-30%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0030195,Fatigable weakness of swallowing muscles,Occasional (29-5%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0030833,Neck pain,Very frequent (99-80%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009233,Orphanet,268882,ORPHA:268882,44,HP:0040010,Small posterior fossa,Very frequent (99-80%),TAS,,,,"[PMID:10232534, PMID:1141921, PMID:15449382, PMID:16765829, PMID:6668471, PMID:7482254, PMID:8988080]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0001919,Acute kidney injury,Very rare (<4-1%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0006528,Chronic lung disease,Occasional (29-5%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0011949,Acute infectious pneumonia,Occasional (29-5%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0012418,Hypoxemia,Occasional (29-5%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009237,Orphanet,140896,ORPHA:140896,16,HP:0025439,Pharyngitis,Occasional (29-5%),TAS,,,,"[PMID:25270030, PMID:27195607, PMID:30505188, PMID:30623094]",y,y +GARD:0009247,Orphanet,48686,ORPHA:48686,8,HP:0001698,Pericardial effusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009247,Orphanet,48686,ORPHA:48686,8,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009247,Orphanet,48686,ORPHA:48686,8,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009247,Orphanet,48686,ORPHA:48686,8,HP:0002202,Pleural effusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009247,Orphanet,48686,ORPHA:48686,8,HP:0002585,Abnormality of the peritoneum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009247,Orphanet,48686,ORPHA:48686,8,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0009247,Orphanet,48686,ORPHA:48686,8,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009247,Orphanet,48686,ORPHA:48686,8,HP:0012191,B-cell lymphoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0001085,Papilledema,Frequent (79-30%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0001895,Normochromic anemia,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0001897,Normocytic anemia,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0001970,Tubulointerstitial nephritis,Very frequent (99-80%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0001994,Renal Fanconi syndrome,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0002907,Microscopic hematuria,Frequent (79-30%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0003237,Increased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0003259,Elevated circulating creatinine concentration,Frequent (79-30%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0003355,Aminoaciduria,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0003565,Elevated erythrocyte sedimentation rate,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0004918,Hyperchloremic metabolic acidosis,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0007703,Abnormality of retinal pigmentation,Very rare (<4-1%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0007777,Chorioretinal scar,Very rare (<4-1%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0007813,Nongranulomatous uveitis,Very frequent (99-80%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0007902,Vitreous hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0007906,Ocular hypertension,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0008682,Renal tubular epithelial necrosis,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0010702,Increased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0011227,Elevated circulating C-reactive protein concentration,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0011484,Posterior synechiae of the anterior chamber,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0011505,Cystoid macular edema,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0011506,Choroidal neovascularization,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0011525,Iris nevus,Very rare (<4-1%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0012121,Panuveitis,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0012122,Anterior uveitis,Frequent (79-30%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0012123,Posterior uveitis,Frequent (79-30%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0012124,Intermediate uveitis,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0012213,Decreased glomerular filtration rate,Frequent (79-30%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0012595,Mild proteinuria,Frequent (79-30%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0025188,Retinal vasculitis,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0025337,Red eye,Frequent (79-30%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0025466,Beta 2-microglobulinuria,Very frequent (99-80%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0030157,Flank pain,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0031616,Anterior chamber flare,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0031851,Reduced hematocrit,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0032589,Renal lymphocytic tubulitis,Very frequent (99-80%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0032590,Renal neutrophilic tubulitis,Very frequent (99-80%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0032637,Renal interstitial edema,Very frequent (99-80%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0040049,Macular edema,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0100532,Scleritis,Occasional (29-5%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0100586,Sterile pyuria,Frequent (79-30%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009252,Orphanet,91500,ORPHA:91500,53,HP:0200026,Ocular pain,Frequent (79-30%),TAS,,,,"[PMID:28806188, PMID:31719109, PMID:32463299]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0000054,Micropenis,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0000070,Ureterocele,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0000110,Renal dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0000340,Sloping forehead,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0000463,Anteverted nares,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0001250,Seizure,Obligate (100%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0001332,Dystonia,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0001500,Broad finger,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0001508,Failure to thrive,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0001537,Umbilical hernia,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0002131,Episodic ataxia,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0002506,Diffuse cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0002521,Hypsarrhythmia,Frequent (79-30%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0005280,Depressed nasal bridge,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0007204,Diffuse white matter abnormalities,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0009381,Short finger,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0010174,Broad phalanx of the toes,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0010818,Generalized tonic seizure,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0010850,EEG with spike-wave complexes,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0010851,EEG with burst suppression,Frequent (79-30%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0011169,Generalized clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0011190,Uni- and bilateral multifocal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0012554,Absent thumbnail,Very rare (<4-1%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009255,Orphanet,1934,ORPHA:1934,53,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:18809835, PMID:19396824, PMID:22872100, PMID:27905812, PMID:31097300, PMID:31205438]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0000282,Facial edema,Occasional (29-5%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0000616,Miosis,Occasional (29-5%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0000711,Restlessness,Frequent (79-30%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0000713,Agitation,Frequent (79-30%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0001041,Facial erythema,Occasional (29-5%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0001069,Episodic hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0001742,Nasal congestion,Occasional (29-5%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0002013,Vomiting,Very rare (<4-1%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0009926,Epiphora,Very frequent (99-80%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0030766,Ear pain,Occasional (29-5%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0030953,Conjunctival hyperemia,Very frequent (99-80%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0031284,Flushing,Frequent (79-30%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0031417,Rhinorrhea,Frequent (79-30%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0031731,Increased tear production,Frequent (79-30%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0032148,Episodic pain,Very frequent (99-80%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0040264,Jaw pain,Occasional (29-5%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0100540,Palpebral edema,Occasional (29-5%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009257,Orphanet,57145,ORPHA:57145,23,HP:0100661,Trigeminal neuralgia,Frequent (79-30%),TAS,,,,"[PMID:29931416, PMID:31427501]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0000010,Recurrent urinary tract infections,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0000789,Infertility,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0000802,Impotence,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0002027,Abdominal pain,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0002315,Headache,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0002355,Difficulty walking,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0002540,Inability to walk,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0002607,Bowel incontinence,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0002839,Urinary bladder sphincter dysfunction,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0002936,Distal sensory impairment,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0003306,Spinal rigidity,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0003394,Muscle spasm,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0003419,Low back pain,Frequent (79-30%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0003698,Difficulty standing,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0005107,Abnormal sacrum morphology,Frequent (79-30%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0005765,Sacral meningocele,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0010835,Dissociated sensory loss,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0011868,Sciatica,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0012514,Lower limb pain,Frequent (79-30%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0012700,Abnormal large intestine physiology,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0012877,Retrograde ejaculation,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0025238,Foot pain,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0025643,Tarlov cyst,Obligate (100%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0030014,Female sexual dysfunction,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0030016,Dyspareunia,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0030834,Shoulder pain,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0030838,Hip pain,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0030943,Vulvodynia,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0031520,Groin pain,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0031826,Abnormal reflex,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0031952,Neurogenic claudication,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0040307,Male sexual dysfunction,Occasional (29-5%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0100711,Abnormal thoracic spine morphology,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0100749,Chest pain,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009258,Orphanet,65250,ORPHA:65250,42,HP:0500005,Anal pain,Very rare (<4-1%),TAS,,,,"[PMID:28676364, PMID:31041104, PMID:31079249, PMID:31319080, PMID:31995396]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0000253,Progressive microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001298,Encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0001877,Abnormal erythrocyte morphology,Very frequent (99-80%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0002133,Status epilepticus,Very frequent (99-80%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0002186,Apraxia,Occasional (29-5%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0002871,Central apnea,Occasional (29-5%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0003470,Paralysis,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0007034,Generalized hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0007308,Extrapyramidal dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0007704,Paroxysmal involuntary eye movements,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0011972,Hypoglycorrhachia,Very frequent (99-80%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009265,Orphanet,71277,ORPHA:71277,33,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:15132717, PMID:17718830, PMID:19304421, PMID:20063428, http://www.ncbi.nlm.nih.gov/books/NBK1430]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0002671,Basal cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0002730,Chronic noninfectious lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0005374,Cellular immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0005526,Lymphoid leukemia,Occasional (29-5%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0006739,Squamous cell carcinoma of the skin,Occasional (29-5%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0006775,Multiple myeloma,Occasional (29-5%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0011356,Regional abnormality of skin,Frequent (79-30%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0012531,Pain,Excluded (0%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0012658,Abnormal brain FDG positron emission tomography,Very rare (<4-1%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0025474,Erythematous plaque,Frequent (79-30%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0025475,Erythematous macule,Frequent (79-30%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0030447,Merkel cell skin cancer,Obligate (100%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0030692,Brain neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0040095,Neoplasm of the outer ear,Very rare (<4-1%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0100570,Carcinoid tumor,Occasional (29-5%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009266,Orphanet,79140,ORPHA:79140,17,HP:0200036,Skin nodule,Frequent (79-30%),TAS,,,,"[PMID:19396152, PMID:24094946, PMID:2427595, PMID:26185585, PMID:27198511, PMID:28762116, PMID:5009611, PMID:7811116, PMID:7825937]",y,y +GARD:0009275,Orphanet,98960,ORPHA:98960,9,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:31301286, PMID:32491788]",y,y +GARD:0009275,Orphanet,98960,ORPHA:98960,9,HP:0000495,Recurrent corneal erosions,Frequent (79-30%),TAS,,,,"[PMID:31301286, PMID:32491788]",y,y +GARD:0009275,Orphanet,98960,ORPHA:98960,9,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:31301286, PMID:32491788]",y,y +GARD:0009275,Orphanet,98960,ORPHA:98960,9,HP:0007759,Opacification of the corneal stroma,Frequent (79-30%),TAS,,,,"[PMID:31301286, PMID:32491788]",y,y +GARD:0009275,Orphanet,98960,ORPHA:98960,9,HP:0007881,Central corneal dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:31301286, PMID:32491788]",y,y +GARD:0009275,Orphanet,98960,ORPHA:98960,9,HP:0007924,Slow decrease in visual acuity,Very frequent (99-80%),TAS,,,,"[PMID:31301286, PMID:32491788]",y,y +GARD:0009275,Orphanet,98960,ORPHA:98960,9,HP:0008039,Subepithelial corneal opacities,Very frequent (99-80%),TAS,,,,"[PMID:31301286, PMID:32491788]",y,y +GARD:0009275,Orphanet,98960,ORPHA:98960,9,HP:0032148,Episodic pain,Frequent (79-30%),TAS,,,,"[PMID:31301286, PMID:32491788]",y,y +GARD:0009275,Orphanet,98960,ORPHA:98960,9,HP:0200026,Ocular pain,Frequent (79-30%),TAS,,,,"[PMID:31301286, PMID:32491788]",y,y +GARD:0009278,Orphanet,98963,ORPHA:98963,9,HP:0000495,Recurrent corneal erosions,Occasional (29-5%),TAS,,,,"[PMID:28583694, PMID:30805211, PMID:32667742, PMID:32952948, PMID:33344199]",y,y +GARD:0009278,Orphanet,98963,ORPHA:98963,9,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:28583694, PMID:30805211, PMID:32667742, PMID:32952948, PMID:33344199]",y,y +GARD:0009278,Orphanet,98963,ORPHA:98963,9,HP:0000531,Corneal crystals,Very frequent (99-80%),TAS,,,,"[PMID:28583694, PMID:30805211, PMID:32667742, PMID:32952948, PMID:33344199]",y,y +GARD:0009278,Orphanet,98963,ORPHA:98963,9,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:28583694, PMID:30805211, PMID:32667742, PMID:32952948, PMID:33344199]",y,y +GARD:0009278,Orphanet,98963,ORPHA:98963,9,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:28583694, PMID:30805211, PMID:32667742, PMID:32952948, PMID:33344199]",y,y +GARD:0009278,Orphanet,98963,ORPHA:98963,9,HP:0007759,Opacification of the corneal stroma,Frequent (79-30%),TAS,,,,"[PMID:28583694, PMID:30805211, PMID:32667742, PMID:32952948, PMID:33344199]",y,y +GARD:0009278,Orphanet,98963,ORPHA:98963,9,HP:0007802,Granular corneal dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:28583694, PMID:30805211, PMID:32667742, PMID:32952948, PMID:33344199]",y,y +GARD:0009278,Orphanet,98963,ORPHA:98963,9,HP:0008039,Subepithelial corneal opacities,Frequent (79-30%),TAS,,,,"[PMID:28583694, PMID:30805211, PMID:32667742, PMID:32952948, PMID:33344199]",y,y +GARD:0009278,Orphanet,98963,ORPHA:98963,9,HP:0011493,Central opacification of the cornea,Very frequent (99-80%),TAS,,,,"[PMID:28583694, PMID:30805211, PMID:32667742, PMID:32952948, PMID:33344199]",y,y +GARD:0009279,Orphanet,51208,ORPHA:51208,13,HP:0000717,Autism,Very rare (<4-1%),TAS,,,,"[PMID:29178637, PMID:30740726]",y,y +GARD:0009279,Orphanet,51208,ORPHA:51208,13,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:29178637, PMID:30740726]",y,y +GARD:0009279,Orphanet,51208,ORPHA:51208,13,HP:0001631,Atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:29178637, PMID:30740726]",y,y +GARD:0009279,Orphanet,51208,ORPHA:51208,13,HP:0001889,Megaloblastic anemia,Occasional (29-5%),TAS,,,,"[PMID:29178637, PMID:30740726]",y,y +GARD:0009279,Orphanet,51208,ORPHA:51208,13,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:29178637, PMID:30740726]",y,y +GARD:0009279,Orphanet,51208,ORPHA:51208,13,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:29178637, PMID:30740726]",y,y +GARD:0009279,Orphanet,51208,ORPHA:51208,13,HP:0010904,Abnormal circulating histidine concentration,Very frequent (99-80%),TAS,,,,"[PMID:29178637, PMID:30740726]",y,y +GARD:0009279,Orphanet,51208,ORPHA:51208,13,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:29178637, PMID:30740726]",y,y +GARD:0009279,Orphanet,51208,ORPHA:51208,13,HP:0012335,Abnormality of folate metabolism,Very frequent (99-80%),TAS,,,,"[PMID:29178637, PMID:30740726]",y,y +GARD:0009279,Orphanet,51208,ORPHA:51208,13,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:29178637, PMID:30740726]",y,y +GARD:0009279,Orphanet,51208,ORPHA:51208,13,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:29178637, PMID:30740726]",y,y +GARD:0009279,Orphanet,51208,ORPHA:51208,13,HP:0032164,Increased blood folate concentration,Frequent (79-30%),TAS,,,,"[PMID:29178637, PMID:30740726]",y,y +GARD:0009279,Orphanet,51208,ORPHA:51208,13,HP:0500170,Abnormal concentration of acylcarnitine in the urine,Frequent (79-30%),TAS,,,,"[PMID:29178637, PMID:30740726]",y,y +GARD:0009283,Orphanet,1168,ORPHA:1168,5,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009283,Orphanet,1168,ORPHA:1168,5,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009283,Orphanet,1168,ORPHA:1168,5,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009283,Orphanet,1168,ORPHA:1168,5,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009283,Orphanet,1168,ORPHA:1168,5,HP:0010747,Medial flaring of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0000481,Abnormal cornea morphology,Very frequent (99-80%),TAS,,,,[PMID:19660733],y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:19660733],y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0000593,Abnormal anterior chamber morphology,Occasional (29-5%),TAS,,,,[PMID:19660733],y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,[PMID:19660733],y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0001089,Iris atrophy,Frequent (79-30%),TAS,,,,[PMID:19660733],y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0004329,Abnormal posterior eye segment morphology,Frequent (79-30%),TAS,,,,[PMID:19660733],y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0007856,Punctate opacification of the cornea,Very frequent (99-80%),TAS,,,,[PMID:19660733],y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0011495,Abnormal corneal epithelium morphology,Very frequent (99-80%),TAS,,,,[PMID:19660733],y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0012040,Corneal stromal edema,Occasional (29-5%),TAS,,,,[PMID:19660733],y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0012122,Anterior uveitis,Frequent (79-30%),TAS,,,,[PMID:19660733],y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0012155,Decreased corneal sensation,Frequent (79-30%),TAS,,,,[PMID:19660733],y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0012804,Corneal ulceration,Occasional (29-5%),TAS,,,,[PMID:19660733],y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0100532,Scleritis,Frequent (79-30%),TAS,,,,[PMID:19660733],y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0100583,Corneal perforation,Frequent (79-30%),TAS,,,,[PMID:19660733],y,y +GARD:0009285,Orphanet,67043,ORPHA:67043,15,HP:0200026,Ocular pain,Very frequent (99-80%),TAS,,,,[PMID:19660733],y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0001602,Laryngeal stenosis,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0002280,Enlarged cisterna magna,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0002991,Abnormality of fibula morphology,Frequent (79-30%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0003026,Short long bone,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0003097,Short femur,Frequent (79-30%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0003417,Coronal cleft vertebrae,Frequent (79-30%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0004599,Absent or minimally ossified vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0004785,Malrotation of colon,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0004894,Laryngotracheal stenosis,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0005257,Thoracic hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0007973,Retinal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0008857,Neonatal short-trunk short stature,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0008905,Rhizomelia,Frequent (79-30%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0009107,Abnormal ossification involving the femoral head and neck,Frequent (79-30%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0009826,Limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009287,Orphanet,1190,ORPHA:1190,32,HP:0030992,Abnormal pancreatic duct morphology,Occasional (29-5%),TAS,,,,"[PMID:12454961, PMID:20301736, PMID:21985323, PMID:23401428]",y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0000218,High palate,Occasional (29-5%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0000446,Narrow nasal bridge,Occasional (29-5%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0000544,External ophthalmoplegia,Frequent (79-30%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0003273,Hip contracture,Occasional (29-5%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0005484,Secondary microcephaly,Frequent (79-30%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0006466,Ankle flexion contracture,Occasional (29-5%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,[PMID:6538752],y,y +GARD:0009288,Orphanet,85285,ORPHA:85285,26,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,[PMID:6538752],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0002506,Diffuse cerebral atrophy,Frequent (79-30%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0006855,Cerebellar vermis atrophy,Occasional (29-5%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0006956,Dilation of lateral ventricles,Frequent (79-30%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0007162,Diffuse demyelination of the cerebral white matter,Frequent (79-30%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0007361,Abnormal pons morphology,Occasional (29-5%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0007366,Atrophy/Degeneration affecting the brainstem,Frequent (79-30%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0007371,Corpus callosum atrophy,Frequent (79-30%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0007633,Bilateral microphthalmos,Very frequent (99-80%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0011174,Focal hyperkinetic seizure,Occasional (29-5%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0030215,Inappropriate crying,Frequent (79-30%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0031165,Multifocal seizures,Frequent (79-30%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0031358,Vegetative state,Occasional (29-5%),TAS,,,,[PMID:16566018],y,y +GARD:0009292,Orphanet,77299,ORPHA:77299,20,HP:0100703,Tongue thrusting,Occasional (29-5%),TAS,,,,[PMID:16566018],y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0000260,Wide anterior fontanel,Frequent (79-30%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0000946,Hypoplastic ilia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0002187,"Intellectual disability, profound",Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0002282,Gray matter heterotopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0002676,Cloverleaf skull,Occasional (29-5%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0002980,Femoral bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0003097,Short femur,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0003185,Short greater sciatic notch,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0006703,Aplasia/Hypoplasia of the lungs,Frequent (79-30%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0007392,Excessive wrinkled skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0008909,Lethal short-limbed short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0010880,Increased nuchal translucency,Frequent (79-30%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009295,Orphanet,1860,ORPHA:1860,40,HP:0100781,Abnormal sacroiliac joint morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009296,Orphanet,101004,ORPHA:101004,7,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:12499481],y,y +GARD:0009296,Orphanet,101004,ORPHA:101004,7,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,[PMID:12499481],y,y +GARD:0009296,Orphanet,101004,ORPHA:101004,7,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,[PMID:12499481],y,y +GARD:0009296,Orphanet,101004,ORPHA:101004,7,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:12499481],y,y +GARD:0009296,Orphanet,101004,ORPHA:101004,7,HP:0002169,Clonus,Very frequent (99-80%),TAS,,,,[PMID:12499481],y,y +GARD:0009296,Orphanet,101004,ORPHA:101004,7,HP:0012407,Scissor gait,Very frequent (99-80%),TAS,,,,[PMID:12499481],y,y +GARD:0009296,Orphanet,101004,ORPHA:101004,7,HP:0030051,Tip-toe gait,Very frequent (99-80%),TAS,,,,[PMID:12499481],y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0000166,Severe periodontitis,Very rare (<4-1%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0000246,Sinusitis,Occasional (29-5%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0000388,Otitis media,Occasional (29-5%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0001045,Vitiligo,Very rare (<4-1%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0001287,Meningitis,Very rare (<4-1%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0001875,Neutropenia,Very frequent (99-80%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0001888,Lymphopenia,Very frequent (99-80%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0002070,Limb ataxia,Occasional (29-5%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0002110,Bronchiectasis,Occasional (29-5%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0002244,Abnormality of the small intestine,Occasional (29-5%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0002718,Recurrent bacterial infections,Frequent (79-30%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0002840,Lymphadenitis,Very rare (<4-1%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0006532,Recurrent pneumonia,Frequent (79-30%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0011850,Parotitis,Very rare (<4-1%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0011947,Respiratory tract infection,Frequent (79-30%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0011992,Abnormality of neutrophil morphology,Very frequent (99-80%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0012056,Cutaneous melanoma,Very rare (<4-1%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0012740,Papilloma,Frequent (79-30%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0025439,Pharyngitis,Occasional (29-5%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0030079,Cervix cancer,Occasional (29-5%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0031020,Bone marrow hypercellularity,Very frequent (99-80%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0031160,Myelokathexis,Very frequent (99-80%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0100658,Cellulitis,Very rare (<4-1%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0100750,Atelectasis,Very rare (<4-1%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009297,Orphanet,51636,ORPHA:51636,34,HP:0200043,Verrucae,Frequent (79-30%),TAS,,,,"[PMID:10767001, PMID:21595885, PMID:2239986, PMID:30716504, PMID:30819232]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0000273,Facial grimacing,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0000711,Restlessness,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0001250,Seizure,Obligate (100%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0001557,Prenatal movement abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0001943,Hypoglycemia,Very rare (<4-1%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0002133,Status epilepticus,Frequent (79-30%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0002188,Delayed CNS myelination,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0002280,Enlarged cisterna magna,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0003128,Lactic acidosis,Very rare (<4-1%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0010841,Multifocal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0010845,EEG with generalized slow activity,Frequent (79-30%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0010851,EEG with burst suppression,Frequent (79-30%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0011097,Epileptic spasm,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0011152,Early onset absence seizures,Frequent (79-30%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0011166,Focal myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0011198,EEG with generalized epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0011199,EEG with generalized sharp slow waves,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0012420,Meconium stained amniotic fluid,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0012768,Neonatal asphyxia,Occasional (29-5%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0020217,Focal aware motor seizure,Frequent (79-30%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0025116,Fetal distress,Frequent (79-30%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009298,Orphanet,3006,ORPHA:3006,36,HP:0030917,Low APGAR score,Frequent (79-30%),TAS,,,,"[PMID:20301659, PMID:31737911, PMID:33200442]",y,y +GARD:0009304,Orphanet,70567,ORPHA:70567,8,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009304,Orphanet,70567,ORPHA:70567,8,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0009304,Orphanet,70567,ORPHA:70567,8,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0009304,Orphanet,70567,ORPHA:70567,8,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0009304,Orphanet,70567,ORPHA:70567,8,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009304,Orphanet,70567,ORPHA:70567,8,HP:0011985,Acholic stools,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009304,Orphanet,70567,ORPHA:70567,8,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0009304,Orphanet,70567,ORPHA:70567,8,HP:0100574,Biliary tract neoplasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009331,Orphanet,33402,ORPHA:33402,9,HP:0001395,Hepatic fibrosis,Very frequent (99-80%),TAS,,,,[PMID:28631359],y,y +GARD:0009331,Orphanet,33402,ORPHA:33402,9,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,[PMID:28631359],y,y +GARD:0009331,Orphanet,33402,ORPHA:33402,9,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,[PMID:28631359],y,y +GARD:0009331,Orphanet,33402,ORPHA:33402,9,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,[PMID:28631359],y,y +GARD:0009331,Orphanet,33402,ORPHA:33402,9,HP:0002605,Hepatic necrosis,Frequent (79-30%),TAS,,,,[PMID:28631359],y,y +GARD:0009331,Orphanet,33402,ORPHA:33402,9,HP:0006254,Elevated alpha-fetoprotein,Very frequent (99-80%),TAS,,,,[PMID:28631359],y,y +GARD:0009331,Orphanet,33402,ORPHA:33402,9,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,[PMID:28631359],y,y +GARD:0009331,Orphanet,33402,ORPHA:33402,9,HP:0030242,Portal vein thrombosis,Frequent (79-30%),TAS,,,,[PMID:28631359],y,y +GARD:0009331,Orphanet,33402,ORPHA:33402,9,HP:0410019,Epigastric pain,Frequent (79-30%),TAS,,,,[PMID:28631359],y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0000619,Impaired convergence,Occasional (29-5%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0001085,Papilledema,Occasional (29-5%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0001254,Lethargy,Very rare (<4-1%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0002344,Progressive neurologic deterioration,Frequent (79-30%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0002516,Increased intracranial pressure,Frequent (79-30%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0003470,Paralysis,Occasional (29-5%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0004372,Reduced consciousness/confusion,Very rare (<4-1%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0007045,Midline brain calcifications,Occasional (29-5%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0007987,Progressive visual field defects,Occasional (29-5%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0009919,Retinoblastoma,Occasional (29-5%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0010799,Pinealoma,Obligate (100%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009369,Orphanet,251909,ORPHA:251909,19,HP:0100576,Amaurosis fugax,Occasional (29-5%),TAS,,,,"[PMID:12470168, PMID:21205817, PMID:21536703, PMID:21717450, PMID:23876864, PMID:2676297, PMID:6986979]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0000845,Elevated circulating growth hormone concentration,Occasional (29-5%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0000870,Increased circulating prolactin concentration,Very frequent (99-80%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0000873,Diabetes insipidus,Very rare (<4-1%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0003154,Increased circulating ACTH level,Very frequent (99-80%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0006767,Pituitary prolactin cell adenoma,Very frequent (99-80%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0007987,Progressive visual field defects,Frequent (79-30%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0008291,Pituitary corticotropic cell adenoma,Very frequent (99-80%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0010514,Hyperpituitarism,Occasional (29-5%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0011442,Abnormal central motor function,Occasional (29-5%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0011759,Pituitary gonadotropic cell adenoma,Very rare (<4-1%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0011760,Pituitary growth hormone cell adenoma,Occasional (29-5%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0011762,Pituitary thyrotropic cell adenoma,Very rare (<4-1%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0011763,Pituitary carcinoma,Obligate (100%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0012377,Hemianopia,Frequent (79-30%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0012505,Enlarged pituitary gland,Frequent (79-30%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0040075,Hypopituitarism,Frequent (79-30%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0100561,Spinal cord lesion,Occasional (29-5%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009371,Orphanet,300385,ORPHA:300385,22,HP:0100836,Malignant neoplasm of the central nervous system,Very frequent (99-80%),TAS,,,,"[PMID:15741248, PMID:17287410, PMID:20660056, PMID:22404748, PMID:23400299, PMID:25633744, PMID:27242211]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0001279,Syncope,Very rare (<4-1%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0001653,Mitral regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0001657,Prolonged QT interval,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0001662,Bradycardia,Very rare (<4-1%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0001663,Ventricular fibrillation,Very rare (<4-1%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0001677,Coronary artery atherosclerosis,Excluded (0%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0001727,Thromboembolic stroke,Very rare (<4-1%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0004308,Ventricular arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0005110,Atrial fibrillation,Very rare (<4-1%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0005145,Coronary artery stenosis,Excluded (0%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0005184,Prolonged QTc interval,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0006698,Dilatation of the ventricular cavity,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0006704,Abnormal coronary artery morphology,Excluded (0%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0008180,Mildly elevated creatine kinase,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0009805,Low-output congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0010872,T-wave inversion,Frequent (79-30%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0012250,ST segment depression,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0012251,ST segment elevation,Frequent (79-30%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0012663,Mildly reduced ejection fraction,Very frequent (99-80%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0025077,Decreased QRS voltage,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0030149,Cardiogenic shock,Very rare (<4-1%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0031138,Abnormal B-type natriuretic peptide level,Occasional (29-5%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0100598,Pulmonary edema,Very rare (<4-1%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009400,Orphanet,66529,ORPHA:66529,34,HP:0410174,Increased circulating troponin T concentration,Frequent (79-30%),TAS,,,,"[PMID:27546831, PMID:28041712, PMID:28648424, PMID:31262719]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0000026,Male hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0000317,Facial myokymia,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0000657,Oculomotor apraxia,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0002143,Abnormality of the spinal cord,Frequent (79-30%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0002186,Apraxia,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0002196,Myelopathy,Very frequent (99-80%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0002283,Global brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0002518,Abnormal periventricular white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0002540,Inability to walk,Very rare (<4-1%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0003089,Hamstring contractures,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0004359,Abnormal circulating fatty-acid concentration,Frequent (79-30%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0007034,Generalized hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0007162,Diffuse demyelination of the cerebral white matter,Very frequent (99-80%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0007305,CNS demyelination,Very frequent (99-80%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0008163,Decreased circulating cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0008167,Very long chain fatty acid accumulation,Very frequent (99-80%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0008207,Primary adrenal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0010527,Astereognosia,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0010794,Impaired visuospatial constructive cognition,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0011448,Ankle clonus,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0012501,Abnormality of the brainstem white matter,Frequent (79-30%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0030222,Visual agnosia,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0031358,Vegetative state,Very rare (<4-1%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0031993,Hoffmann sign,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009412,Orphanet,139396,ORPHA:139396,51,HP:0045084,Limb myoclonus,Occasional (29-5%),TAS,,,,"[PMID:22889154, PMID:25115486, PMID:32953324]",y,y +GARD:0009418,Orphanet,3233,ORPHA:3233,5,HP:0000408,Progressive sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009418,Orphanet,3233,ORPHA:3233,5,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009418,Orphanet,3233,ORPHA:3233,5,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0009418,Orphanet,3233,ORPHA:3233,5,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009418,Orphanet,3233,ORPHA:3233,5,HP:0005102,Cochlear degeneration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0001802,Absent toenail,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0001804,Hypoplastic fingernail,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0001847,Long hallux,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0002058,Myopathic facies,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0006016,Delayed phalangeal epiphyseal ossification,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0009648,Triangular shaped distal phalanx of the thumb,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0009660,Short phalanx of the thumb,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0009890,High anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0009928,Thick nasal alae,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0010624,Aplastic/hypoplastic toenail,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0010803,Everted upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0010804,Tented upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0012553,Hypoplastic thumbnail,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009441,Orphanet,420561,ORPHA:420561,48,HP:0012555,Absent nail of hallux,Occasional (29-5%),TAS,,,,"[PMID:25420144, PMID:25629734, PMID:26818738]",y,y +GARD:0009442,Orphanet,366,ORPHA:366,7,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009442,Orphanet,366,ORPHA:366,7,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0009442,Orphanet,366,ORPHA:366,7,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009442,Orphanet,366,ORPHA:366,7,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009442,Orphanet,366,ORPHA:366,7,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009442,Orphanet,366,ORPHA:366,7,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0009442,Orphanet,366,ORPHA:366,7,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009443,Orphanet,85165,ORPHA:85165,14,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:10053006, PMID:10377013]",y,y +GARD:0009443,Orphanet,85165,ORPHA:85165,14,HP:0000889,Abnormal clavicle morphology,Frequent (79-30%),TAS,,,,"[PMID:10053006, PMID:10377013]",y,y +GARD:0009443,Orphanet,85165,ORPHA:85165,14,HP:0000956,Acanthosis nigricans,Very frequent (99-80%),TAS,,,,"[PMID:10053006, PMID:10377013]",y,y +GARD:0009443,Orphanet,85165,ORPHA:85165,14,HP:0002079,Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:10053006, PMID:10377013]",y,y +GARD:0009443,Orphanet,85165,ORPHA:85165,14,HP:0002197,Generalized-onset seizure,Very frequent (99-80%),TAS,,,,"[PMID:10053006, PMID:10377013]",y,y +GARD:0009443,Orphanet,85165,ORPHA:85165,14,HP:0002980,Femoral bowing,Frequent (79-30%),TAS,,,,"[PMID:10053006, PMID:10377013]",y,y +GARD:0009443,Orphanet,85165,ORPHA:85165,14,HP:0002982,Tibial bowing,Frequent (79-30%),TAS,,,,"[PMID:10053006, PMID:10377013]",y,y +GARD:0009443,Orphanet,85165,ORPHA:85165,14,HP:0005871,Metaphyseal chondrodysplasia,Very frequent (99-80%),TAS,,,,"[PMID:10053006, PMID:10377013]",y,y +GARD:0009443,Orphanet,85165,ORPHA:85165,14,HP:0009118,Aplasia/Hypoplasia of the mandible,Very frequent (99-80%),TAS,,,,"[PMID:10053006, PMID:10377013]",y,y +GARD:0009443,Orphanet,85165,ORPHA:85165,14,HP:0010502,Fibular bowing,Frequent (79-30%),TAS,,,,"[PMID:10053006, PMID:10377013]",y,y +GARD:0009443,Orphanet,85165,ORPHA:85165,14,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:10053006, PMID:10377013]",y,y +GARD:0009443,Orphanet,85165,ORPHA:85165,14,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:10053006, PMID:10377013]",y,y +GARD:0009443,Orphanet,85165,ORPHA:85165,14,HP:0012081,Enlarged cerebellum,Very frequent (99-80%),TAS,,,,"[PMID:10053006, PMID:10377013]",y,y +GARD:0009443,Orphanet,85165,ORPHA:85165,14,HP:0012444,Brain atrophy,Very frequent (99-80%),TAS,,,,"[PMID:10053006, PMID:10377013]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0000554,Uveitis,Very rare (<4-1%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0000709,Psychosis,Very rare (<4-1%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0000952,Jaundice,Very rare (<4-1%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0000967,Petechiae,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001369,Arthritis,Very rare (<4-1%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001701,Pericarditis,Very rare (<4-1%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001733,Pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001882,Leukopenia,Very frequent (99-80%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001888,Lymphopenia,Very frequent (99-80%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001923,Reticulocytosis,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0001987,Hyperammonemia,Very rare (<4-1%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0002045,Hypothermia,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0002329,Drowsiness,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0002480,Hepatic encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0002900,Hypokalemia,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0003128,Lactic acidosis,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0003256,Abnormality of the coagulation cascade,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0003259,Elevated circulating creatinine concentration,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0003645,Prolonged partial thromboplastin time,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0004332,Abnormal lymphocyte morphology,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0004360,Abnormality of acid-base homeostasis,Very rare (<4-1%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0005521,Disseminated intravascular coagulation,Very rare (<4-1%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0008151,Prolonged prothrombin time,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0010702,Increased circulating antibody level,Very frequent (99-80%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0011024,Abnormality of the gastrointestinal tract,Very rare (<4-1%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0011029,Internal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0011106,Hypovolemia,Very rare (<4-1%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0011151,Atypical absence status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0011896,Subconjunctival hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0012137,Abnormal number of granulocyte precursors,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0012534,Dysesthesia,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0020071,Viremia,Very frequent (99-80%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0025085,Bloody diarrhea,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0025143,Chills,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0030005,Capillary leak,Very frequent (99-80%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0030139,Excessive bleeding after a venipuncture,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0030953,Conjunctival hyperemia,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0031246,Nonproductive cough,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0031273,Shock,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0032043,Odynophagia,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0032169,Severe infection,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0040186,Maculopapular exanthema,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0100796,Orchitis,Very rare (<4-1%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0410257,Neutrophilia in presence of infection,Frequent (79-30%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009444,Orphanet,99826,ORPHA:99826,74,HP:0410288,Hyperamylasemia,Occasional (29-5%),TAS,,,,"[PMID:24816494, PMID:31888676, PMID:32758690]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0000550,Undetectable electroretinogram,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0002059,Cerebral atrophy,Very frequent (99-80%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0002074,Increased neuronal autofluorescent lipopigment,Very frequent (99-80%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0002333,Motor deterioration,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0002421,Poor head control,Very frequent (99-80%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0003657,Granular osmiophilic deposits (GROD) in cells,Very frequent (99-80%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0003739,Myoclonic spasms,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0007010,Poor fine motor coordination,Very frequent (99-80%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0007987,Progressive visual field defects,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0011209,EEG with generalized slow activity grade 4,Occasional (29-5%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0012444,Brain atrophy,Very frequent (99-80%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0025336,Delayed ability to sit,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0025373,Interictal EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0030485,Abnormal amplitude of pattern electroretinogram,Frequent (79-30%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0033044,Motor regression,Very frequent (99-80%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009447,Orphanet,79263,ORPHA:79263,38,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:22387303, PMID:23747979, PMID:30470609]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000089,Renal hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000124,Renal tubular dysfunction,Very rare (<4-1%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000327,Hypoplasia of the maxilla,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000677,Oligodontia,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0000859,Hyperaldosteronism,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0001279,Syncope,Very rare (<4-1%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0001324,Muscle weakness,Obligate (100%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0001388,Joint laxity,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0001657,Prolonged QT interval,Frequent (79-30%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0001664,Torsade de pointes,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0001864,Clinodactyly of the 5th toe,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0003752,Episodic flaccid weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0003768,Periodic paralysis,Obligate (100%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0004308,Ventricular arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0005135,Abnormal T-wave,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0005147,Bidirectional ventricular ectopy,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0005184,Prolonged QTc interval,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0006335,Persistence of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0006682,Premature ventricular contraction,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0006696,Polymorphic and polytopic ventricular extrasystoles,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0007215,Periodic hyperkalemic paralysis,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0008153,Periodic hypokalemic paresis,Frequent (79-30%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0011073,Abnormality of dental color,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0012745,Short palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0025072,Prominent U wave,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0030799,Scaphocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0031677,Polymorphic ventricular tachycardia,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009453,Orphanet,37553,ORPHA:37553,51,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,"[PMID:20301441, PMID:29125635, PMID:32947483]",y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000276,Long face,Frequent (79-30%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000556,Retinal dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000618,Blindness,Frequent (79-30%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0001320,Cerebellar vermis hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0001829,Foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0002104,Apnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0002419,Molar tooth sign on MRI,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0002789,Tachypnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0009455,Orphanet,2318,ORPHA:2318,37,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009456,Orphanet,75563,ORPHA:75563,10,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0009456,Orphanet,75563,ORPHA:75563,10,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009456,Orphanet,75563,ORPHA:75563,10,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009456,Orphanet,75563,ORPHA:75563,10,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0009456,Orphanet,75563,ORPHA:75563,10,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009456,Orphanet,75563,ORPHA:75563,10,HP:0001952,Glucose intolerance,Occasional (29-5%),TAS,,,,,y,y +GARD:0009456,Orphanet,75563,ORPHA:75563,10,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0009456,Orphanet,75563,ORPHA:75563,10,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,,y,y +GARD:0009456,Orphanet,75563,ORPHA:75563,10,HP:0011031,Abnormality of iron homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009456,Orphanet,75563,ORPHA:75563,10,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009457,Orphanet,2924,ORPHA:2924,14,HP:0001732,Abnormality of the pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0009457,Orphanet,2924,ORPHA:2924,14,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0009457,Orphanet,2924,ORPHA:2924,14,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0009457,Orphanet,2924,ORPHA:2924,14,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,,y,y +GARD:0009457,Orphanet,2924,ORPHA:2924,14,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0009457,Orphanet,2924,ORPHA:2924,14,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0009457,Orphanet,2924,ORPHA:2924,14,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009457,Orphanet,2924,ORPHA:2924,14,HP:0002617,Vascular dilatation,Occasional (29-5%),TAS,,,,,y,y +GARD:0009457,Orphanet,2924,ORPHA:2924,14,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009457,Orphanet,2924,ORPHA:2924,14,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0009457,Orphanet,2924,ORPHA:2924,14,HP:0003573,Increased total bilirubin,Occasional (29-5%),TAS,,,,,y,y +GARD:0009457,Orphanet,2924,ORPHA:2924,14,HP:0005562,Multiple renal cysts,Frequent (79-30%),TAS,,,,,y,y +GARD:0009457,Orphanet,2924,ORPHA:2924,14,HP:0006557,Polycystic liver disease,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009457,Orphanet,2924,ORPHA:2924,14,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009463,Orphanet,85174,ORPHA:85174,9,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009463,Orphanet,85174,ORPHA:85174,9,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009463,Orphanet,85174,ORPHA:85174,9,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0009463,Orphanet,85174,ORPHA:85174,9,HP:0001762,Talipes equinovarus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009463,Orphanet,85174,ORPHA:85174,9,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009463,Orphanet,85174,ORPHA:85174,9,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009463,Orphanet,85174,ORPHA:85174,9,HP:0006243,Phalangeal dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009463,Orphanet,85174,ORPHA:85174,9,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009463,Orphanet,85174,ORPHA:85174,9,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0000987,Atypical scarring of skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0011987,Ectopic ossification in muscle tissue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0100559,Lower limb asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0100560,Upper limb asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0100774,Hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009474,Orphanet,2485,ORPHA:2485,17,HP:0100784,Peripheral arteriovenous fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0000009,Functional abnormality of the bladder,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0000458,Anosmia,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0001934,Persistent bleeding after trauma,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0002070,Limb ataxia,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0002075,Dysdiadochokinesis,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0002138,Subarachnoid hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0002143,Abnormality of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0002317,Unsteady gait,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0002334,Abnormal cerebellar vermis morphology,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0002921,Abnormality of the cerebrospinal fluid,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0002922,Increased CSF protein,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0003698,Difficulty standing,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0006827,Atrophy of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0007366,Atrophy/Degeneration affecting the brainstem,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0008619,Bilateral sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0009591,Abnormality of the vestibulocochlear nerve,Very frequent (99-80%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0009916,Anisocoria,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0010633,Partial anosmia,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0011029,Internal hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0030321,Abnormal vertebral artery morphology,Very rare (<4-1%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0032398,Dysgyria,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0045052,Abnormality of the brachial nerve plexus,Very rare (<4-1%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0100006,Neoplasm of the central nervous system,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0100026,Arteriovenous malformation,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009484,Orphanet,247245,ORPHA:247245,49,HP:0100952,Enlarged sylvian cistern,Occasional (29-5%),TAS,,,,"[PMID:21822983, PMID:29160113]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0000821,Hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0001436,Abnormality of the foot musculature,Occasional (29-5%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0001638,Cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0003376,Steppage gait,Frequent (79-30%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0003438,Absent Achilles reflex,Frequent (79-30%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0003547,Shoulder girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0003691,Scapular winging,Occasional (29-5%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0003724,Shoulder girdle muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0003731,Quadriceps muscle weakness,Excluded (0%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0003805,Rimmed vacuoles,Very frequent (99-80%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0006251,Limited wrist extension,Frequent (79-30%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0006467,Limited shoulder movement,Frequent (79-30%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0007210,Lower limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0007340,Lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0008180,Mildly elevated creatine kinase,Very frequent (99-80%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0008963,Tibialis muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0009027,Foot dorsiflexor weakness,Very frequent (99-80%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0009077,Weakness of long finger extensor muscles,Very rare (<4-1%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0012515,Hip flexor weakness,Frequent (79-30%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0012548,Fatty replacement of skeletal muscle,Very frequent (99-80%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0030007,EMG: positive sharp waves,Frequent (79-30%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0040047,Abnormal right hemidiaphragm morphology,Occasional (29-5%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0100284,EMG: myotonic discharges,Frequent (79-30%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009493,Orphanet,602,ORPHA:602,28,HP:0100299,Muscle fiber inclusion bodies,Very frequent (99-80%),TAS,,,,"[PMID:11721884, PMID:23549799, PMID:26208961, PMID:26546927]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0000091,Abnormal renal tubule morphology,Frequent (79-30%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0001919,Acute kidney injury,Frequent (79-30%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0002150,Hypercalciuria,Occasional (29-5%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0003138,Increased blood urea nitrogen,Occasional (29-5%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0003149,Hyperuricosuria,Obligate (100%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0003537,Hypouricemia,Obligate (100%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0008651,Uric acid urolithiasis independent of gout,Frequent (79-30%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0012211,Abnormal renal physiology,Frequent (79-30%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0012213,Decreased glomerular filtration rate,Occasional (29-5%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0012595,Mild proteinuria,Occasional (29-5%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0012622,Chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009496,Orphanet,94088,ORPHA:94088,16,HP:0030973,Postexertional malaise,Very frequent (99-80%),TAS,,,,"[PMID:27116386, PMID:30097038, PMID:31602378]",y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0000273,Facial grimacing,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0000473,Torticollis,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0000546,Retinal degeneration,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0000608,Macular degeneration,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0000643,Blepharospasm,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0001394,Cirrhosis,Excluded (0%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0001395,Hepatic fibrosis,Excluded (0%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0002304,Akinesia,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0003281,Increased circulating ferritin concentration,Very frequent (99-80%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0004840,Hypochromic microcytic anemia,Very frequent (99-80%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0005505,Refractory anemia,Very frequent (99-80%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0010837,Decreased circulating ceruloplasmin concentration,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0010994,Abnormal corpus striatum morphology,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0011967,Decreased circulating copper concentration,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0012090,Abnormal pancreas morphology,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0012179,Craniofacial dystonia,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0012465,Elevated hepatic iron concentration,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0012675,Iron accumulation in brain,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0012696,Abnormal thalamic MRI signal intensity,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0025498,Aceruloplasminemia,Very frequent (99-80%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0040303,Decreased serum iron,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0100321,Abnormal dentate nucleus morphology,Occasional (29-5%),TAS,,,,[PMID:20301666],y,y +GARD:0009499,Orphanet,48818,ORPHA:48818,41,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,[PMID:20301666],y,y +GARD:0009501,Orphanet,53372,ORPHA:53372,7,HP:0000178,Abnormality of lower lip,Occasional (29-5%),TAS,,,,"[PMID:25829069, PMID:26388646, PMID:27117562]",y,y +GARD:0009501,Orphanet,53372,ORPHA:53372,7,HP:0002080,Intention tremor,Excluded (0%),TAS,,,,"[PMID:25829069, PMID:26388646, PMID:27117562]",y,y +GARD:0009501,Orphanet,53372,ORPHA:53372,7,HP:0002353,EEG abnormality,Excluded (0%),TAS,,,,"[PMID:25829069, PMID:26388646, PMID:27117562]",y,y +GARD:0009501,Orphanet,53372,ORPHA:53372,7,HP:0003457,EMG abnormality,Excluded (0%),TAS,,,,"[PMID:25829069, PMID:26388646, PMID:27117562]",y,y +GARD:0009501,Orphanet,53372,ORPHA:53372,7,HP:0012433,Abnormal social behavior,Occasional (29-5%),TAS,,,,"[PMID:25829069, PMID:26388646, PMID:27117562]",y,y +GARD:0009501,Orphanet,53372,ORPHA:53372,7,HP:0012462,Chin myoclonus,Obligate (100%),TAS,,,,"[PMID:25829069, PMID:26388646, PMID:27117562]",y,y +GARD:0009501,Orphanet,53372,ORPHA:53372,7,HP:3000007,Abnormality of mentalis muscle,Very frequent (99-80%),TAS,,,,"[PMID:25829069, PMID:26388646, PMID:27117562]",y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000260,Wide anterior fontanel,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000270,Delayed cranial suture closure,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000561,Absent eyelashes,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000889,Abnormal clavicle morphology,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0000964,Eczema,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0002023,Anal atresia,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0002223,Absent eyebrow,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0002697,Parietal foramina,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0004397,Ectopic anus,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0004440,Coronal craniosynostosis,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0004491,Large posterior fontanelle,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0006660,Aplastic clavicle,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0008368,Tarsal synostosis,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0012742,Thin fingernail,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0100589,Urogenital fistula,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009506,Orphanet,85199,ORPHA:85199,35,HP:0200044,Porokeratosis,Very frequent (99-80%),TAS,,,,[PMID:15924278],y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000274,Small face,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000276,Long face,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0000912,Sprengel anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0001172,Abnormal thumb morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0001572,Macrodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0003328,Abnormal hair laboratory examination,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0008499,High hypermetropia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0010761,Broad columella,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0030853,Heterotaxy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0045074,Thin eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0009509,Orphanet,3242,ORPHA:3242,42,HP:0100830,Round ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0000107,Renal cyst,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0000147,Polycystic ovaries,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0000485,Megalocornea,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0000568,Microphthalmia,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0001254,Lethargy,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0001274,Agenesis of corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0001649,Tachycardia,Very frequent (99-80%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0001678,Atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0001716,Wolff-Parkinson-White syndrome,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0001907,Thromboembolism,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0001943,Hypoglycemia,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0002301,Hemiplegia,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0002329,Drowsiness,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0002401,Stroke-like episode,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0002438,Cerebellar malformation,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0003128,Lactic acidosis,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0003546,Exercise intolerance,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0004749,Atrial flutter,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0004755,Supraventricular tachycardia,Frequent (79-30%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0004756,Ventricular tachycardia,Frequent (79-30%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0005110,Atrial fibrillation,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0005165,Shortened PR interval,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0005950,Laryngeal web,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0007185,Loss of consciousness,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0007707,Congenital aphakia,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0007957,Corneal opacity,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0011712,Right bundle branch block,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0011716,Junctional ectopic tachycardia,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009511,Orphanet,137675,ORPHA:137675,44,HP:0100598,Pulmonary edema,Very rare (<4-1%),TAS,,,,"[PMID:27504452, PMID:7942464]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000014,Abnormality of the bladder,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000077,Abnormality of the kidney,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000083,Renal insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000119,Abnormality of the genitourinary system,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000479,Abnormal retinal morphology,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000613,Photophobia,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000622,Blurred vision,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000751,Personality changes,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000818,Abnormality of the endocrine system,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000885,Broad ribs,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000925,Abnormality of the vertebral column,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000987,Atypical scarring of skin,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0001392,Abnormality of the liver,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0001701,Pericarditis,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0001733,Pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0001743,Abnormality of the spleen,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0001783,Broad metatarsal,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0001871,Abnormality of blood and blood-forming tissues,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0002113,Pulmonary infiltrates,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0002315,Headache,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0002586,Peritonitis,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0002633,Vasculitis,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0002637,Cerebral ischemia,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0002682,Broad skull,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0002754,Osteomyelitis,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0002797,Osteolysis,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0002922,Increased CSF protein,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0003237,Increased circulating IgG level,Frequent (79-30%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0003496,Increased circulating IgM level,Frequent (79-30%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0005916,Abnormal metacarpal morphology,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0010460,Abnormality of the female genitalia,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0010461,Abnormality of the male genitalia,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0011314,Abnormality of long bone morphology,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0011450,Unusual CNS infection,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0011919,Pleural empyema,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0011921,Exudative pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0011972,Hypoglycorrhachia,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0012219,Erythema nodosum,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0012229,CSF pleocytosis,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0012282,Morbilliform rash,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0012490,Panniculitis,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0012500,Verrucous papule,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0012864,Abnormal sperm morphology,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0020101,Invasive fungal infection,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0025084,Folliculitis,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0025615,Abscess,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0025637,Vasospasm,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0030351,Urticarial plaque,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0031179,Nuchal rigidity,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0032161,Coccidioidal meningitis,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0032177,Parenchymal consolidation,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0032217,Indurated nodule,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0032252,Granuloma,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0100721,Mediastinal lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0200034,Papule,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0200035,Skin plaque,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009525,Orphanet,228123,ORPHA:228123,76,HP:0200149,CSF lymphocytic pleiocytosis,Occasional (29-5%),TAS,,,,"[PMID:23068145, PMID:26739609, PMID:30690606]",y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0002315,Headache,Frequent (79-30%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009535,Orphanet,47045,ORPHA:47045,17,HP:0012534,Dysesthesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0000024,Prostatitis,Very rare (<4-1%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0000119,Abnormality of the genitourinary system,Very rare (<4-1%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0000197,Abnormal parotid gland morphology,Very rare (<4-1%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0001743,Abnormality of the spleen,Occasional (29-5%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0001886,Foot osteomyelitis,Very rare (<4-1%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0003095,Septic arthritis,Occasional (29-5%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0011850,Parotitis,Very rare (<4-1%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0011947,Respiratory tract infection,Frequent (79-30%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0011949,Acute infectious pneumonia,Frequent (79-30%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0025044,Lung abscess,Frequent (79-30%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0025059,Splenic abscess,Occasional (29-5%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0030049,Brain abscess,Occasional (29-5%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0031273,Shock,Frequent (79-30%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0031292,Cutaneous abscess,Occasional (29-5%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0031864,Bacteremia,Frequent (79-30%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0032162,Unusual skin infection,Occasional (29-5%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0100523,Liver abscess,Occasional (29-5%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009546,Orphanet,31202,ORPHA:31202,23,HP:0100806,Sepsis,Frequent (79-30%),TAS,,,,"[PMID:27423906, PMID:29388572]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0001287,Meningitis,Very rare (<4-1%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0001701,Pericarditis,Very rare (<4-1%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0001733,Pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0001903,Anemia,Very rare (<4-1%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0002374,Diminished movement,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0002840,Lymphadenitis,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0003095,Septic arthritis,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0011850,Parotitis,Very rare (<4-1%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0012219,Erythema nodosum,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0012282,Morbilliform rash,Frequent (79-30%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0012819,Myocarditis,Very rare (<4-1%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0025145,Rigors,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0025181,Abdominal aseptic abscess,Very rare (<4-1%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0025230,Tendonitis,Very rare (<4-1%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0025439,Pharyngitis,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0040186,Maculopapular exanthema,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0040313,Oligoarthritis,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0100584,Endocarditis,Very rare (<4-1%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009557,Orphanet,31205,ORPHA:31205,32,HP:0200039,Pustule,Occasional (29-5%),TAS,,,,"[PMID:19008054, PMID:23529964, PMID:31015812]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0000155,Oral ulcer,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0000230,Gingivitis,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0000704,Periodontitis,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0001028,Hemangioma,Occasional (29-5%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0001875,Neutropenia,Obligate (100%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0001909,Leukemia,Occasional (29-5%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0001915,Aplastic anemia,Occasional (29-5%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0002718,Recurrent bacterial infections,Very frequent (99-80%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0003453,Antineutrophil antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0004429,Recurrent viral infections,Very frequent (99-80%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0004798,Recurrent infection of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0004808,Acute myeloid leukemia,Occasional (29-5%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0005425,Recurrent sinopulmonary infections,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0006480,Premature loss of teeth,Occasional (29-5%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0006721,Acute lymphoblastic leukemia,Occasional (29-5%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0011107,Recurrent aphthous stomatitis,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0012311,Monocytosis,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0012384,Rhinitis,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0025439,Pharyngitis,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0025452,Pyoderma gangrenosum,Occasional (29-5%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009558,Orphanet,486,ORPHA:486,31,HP:0410018,Recurrent ear infections,Frequent (79-30%),TAS,,,,"[PMID:28593997, PMID:28875503]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0000010,Recurrent urinary tract infections,Very rare (<4-1%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0000099,Glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0000246,Sinusitis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0000969,Edema,Very rare (<4-1%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002586,Peritonitis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002814,Abnormality of the lower limb,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002817,Abnormality of the upper limb,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0003095,Septic arthritis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0003259,Elevated circulating creatinine concentration,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0005521,Disseminated intravascular coagulation,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0011355,Localized skin lesion,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0011799,Abnormality of facial soft tissue,Frequent (79-30%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0011947,Respiratory tract infection,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0025143,Chills,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0025439,Pharyngitis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0025615,Abscess,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0030005,Capillary leak,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0031273,Shock,Very frequent (99-80%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0031364,Ecchymosis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0031691,Severe viral infection,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0031864,Bacteremia,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0032169,Severe infection,Very frequent (99-80%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0032170,Severe varicella zoster infection,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0032237,Increased circulating myelocyte count,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0032238,Increased circulating metamyelocyte count,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0032675,Acute cutaneous wound,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0100537,Fasciitis,Frequent (79-30%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0100614,Myositis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009560,Orphanet,36234,ORPHA:36234,60,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:23830657, PMID:25444488, PMID:26866227]",y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0001259,Coma,Occasional (29-5%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0001695,Cardiac arrest,Occasional (29-5%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0012733,Macule,Frequent (79-30%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0012735,Cough,Occasional (29-5%),TAS,,,,,y,y +GARD:0009564,Orphanet,99745,ORPHA:99745,27,HP:0100785,Insomnia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0000034,Hydrocele testis,Very rare (<4-1%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0000074,Ureteropelvic junction obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0000100,Nephrotic syndrome,Very rare (<4-1%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0000790,Hematuria,Very rare (<4-1%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0000802,Impotence,Very rare (<4-1%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0000872,Hashimoto thyroiditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0001370,Rheumatoid arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0001897,Normocytic anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0002639,Budd-Chiari syndrome,Very rare (<4-1%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0002923,Rheumatoid factor positive,Occasional (29-5%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0003138,Increased blood urea nitrogen,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0003259,Elevated circulating creatinine concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0003262,Smooth muscle antibody positivity,Occasional (29-5%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0003419,Low back pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0003453,Antineutrophil antibody positivity,Occasional (29-5%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0003765,Psoriasiform dermatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0005310,Large vessel vasculitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0008682,Renal tubular epithelial necrosis,Very rare (<4-1%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0012531,Pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0012578,Membranous nephropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0012583,Unilateral renal hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0012871,Varicocele,Very rare (<4-1%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0012877,Retrograde ejaculation,Very rare (<4-1%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0025379,Anti-thyroid peroxidase antibody positivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0030157,Flank pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0031191,Deep dermal perivascular inflammatory infiltrate,Frequent (79-30%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0100518,Dysuria,Very rare (<4-1%),TAS,,,,,y,y +GARD:0009568,Orphanet,49041,ORPHA:49041,43,HP:0100817,Renovascular hypertension,Very rare (<4-1%),TAS,,,,,y,y +GARD:0009569,Orphanet,31112,ORPHA:31112,6,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009569,Orphanet,31112,ORPHA:31112,6,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009569,Orphanet,31112,ORPHA:31112,6,HP:0008069,Neoplasm of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009569,Orphanet,31112,ORPHA:31112,6,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009569,Orphanet,31112,ORPHA:31112,6,HP:0100244,Fibrosarcoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009569,Orphanet,31112,ORPHA:31112,6,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0000009,Functional abnormality of the bladder,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0000118,Phenotypic abnormality,Occasional (29-5%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0000580,Pigmentary retinopathy,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0001152,Saccadic smooth pursuit,Occasional (29-5%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0001258,Spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0002079,Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0002145,Frontotemporal dementia,Occasional (29-5%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0002378,Hand tremor,Occasional (29-5%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0002495,Impaired vibratory sensation,Occasional (29-5%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0003484,Upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0003693,Distal amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0006986,Upper limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0007024,Pseudobulbar paralysis,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0007108,Demyelinating peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0008969,Leg muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0012045,Retinal flecks,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0030506,Yellow/white lesions of the retina,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0030892,Deep cerebral white matter hyperintensities,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009581,Orphanet,100996,ORPHA:100996,39,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:16217069, PMID:17661097, PMID:18098276, PMID:19805727]",y,y +GARD:0009582,Orphanet,101005,ORPHA:101005,13,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,[PMID:12070243],y,y +GARD:0009582,Orphanet,101005,ORPHA:101005,13,HP:0000763,Sensory neuropathy,Frequent (79-30%),TAS,,,,[PMID:12070243],y,y +GARD:0009582,Orphanet,101005,ORPHA:101005,13,HP:0001087,Developmental glaucoma,Occasional (29-5%),TAS,,,,[PMID:12070243],y,y +GARD:0009582,Orphanet,101005,ORPHA:101005,13,HP:0001258,Spastic paraplegia,Frequent (79-30%),TAS,,,,[PMID:12070243],y,y +GARD:0009582,Orphanet,101005,ORPHA:101005,13,HP:0002385,Paraparesis,Very frequent (99-80%),TAS,,,,[PMID:12070243],y,y +GARD:0009582,Orphanet,101005,ORPHA:101005,13,HP:0003134,Abnormality of peripheral nerve conduction,Occasional (29-5%),TAS,,,,[PMID:12070243],y,y +GARD:0009582,Orphanet,101005,ORPHA:101005,13,HP:0007141,Sensorimotor neuropathy,Occasional (29-5%),TAS,,,,[PMID:12070243],y,y +GARD:0009582,Orphanet,101005,ORPHA:101005,13,HP:0008441,Herniation of intervertebral nuclei,Very frequent (99-80%),TAS,,,,[PMID:12070243],y,y +GARD:0009582,Orphanet,101005,ORPHA:101005,13,HP:0008480,Cervical spondylosis,Occasional (29-5%),TAS,,,,[PMID:12070243],y,y +GARD:0009582,Orphanet,101005,ORPHA:101005,13,HP:0012513,Upper limb pain,Occasional (29-5%),TAS,,,,[PMID:12070243],y,y +GARD:0009582,Orphanet,101005,ORPHA:101005,13,HP:0012514,Lower limb pain,Frequent (79-30%),TAS,,,,[PMID:12070243],y,y +GARD:0009582,Orphanet,101005,ORPHA:101005,13,HP:0030833,Neck pain,Frequent (79-30%),TAS,,,,[PMID:12070243],y,y +GARD:0009582,Orphanet,101005,ORPHA:101005,13,HP:0100712,Abnormal lumbar spine morphology,Occasional (29-5%),TAS,,,,[PMID:12070243],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0000012,Urinary urgency,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0002166,Impaired vibration sensation in the lower limbs,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0002280,Enlarged cisterna magna,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0002395,Lower limb hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0002425,Anarthria,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0002464,Spastic dysarthria,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0002527,Falls,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0003419,Low back pain,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0006895,Lower limb hypertonia,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0007350,Hyperreflexia in upper limbs,Very frequent (99-80%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0007371,Corpus callosum atrophy,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0010832,Abnormality of pain sensation,Frequent (79-30%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0011397,Abnormality of the dorsal column of the spinal cord,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0012514,Lower limb pain,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009583,Orphanet,447753,ORPHA:447753,34,HP:0100515,Pollakisuria,Occasional (29-5%),TAS,,,,[PMID:26026163],y,y +GARD:0009585,Orphanet,100997,ORPHA:100997,9,HP:0000009,Functional abnormality of the bladder,Frequent (79-30%),TAS,,,,[PMID:9254866],y,y +GARD:0009585,Orphanet,100997,ORPHA:100997,9,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,[PMID:9254866],y,y +GARD:0009585,Orphanet,100997,ORPHA:100997,9,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:9254866],y,y +GARD:0009585,Orphanet,100997,ORPHA:100997,9,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:9254866],y,y +GARD:0009585,Orphanet,100997,ORPHA:100997,9,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,[PMID:9254866],y,y +GARD:0009585,Orphanet,100997,ORPHA:100997,9,HP:0001844,Abnormality of the hallux,Frequent (79-30%),TAS,,,,[PMID:9254866],y,y +GARD:0009585,Orphanet,100997,ORPHA:100997,9,HP:0002427,Expressive aphasia,Frequent (79-30%),TAS,,,,[PMID:9254866],y,y +GARD:0009585,Orphanet,100997,ORPHA:100997,9,HP:0002445,Tetraplegia,Frequent (79-30%),TAS,,,,[PMID:9254866],y,y +GARD:0009585,Orphanet,100997,ORPHA:100997,9,HP:0012719,Functional abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,[PMID:9254866],y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0000012,Urinary urgency,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0001250,Seizure,Excluded (0%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0002169,Clonus,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0002314,Degeneration of the lateral corticospinal tracts,Very frequent (99-80%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0002921,Abnormality of the cerebrospinal fluid,Excluded (0%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0003457,EMG abnormality,Excluded (0%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0007210,Lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0007340,Lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0007350,Hyperreflexia in upper limbs,Occasional (29-5%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0008075,Progressive pes cavus,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0010831,Impaired proprioception,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0012898,Abnormal lower-limb motor evoked potentials,Excluded (0%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0030014,Female sexual dysfunction,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0040307,Male sexual dysfunction,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009586,Orphanet,100993,ORPHA:100993,26,HP:0100561,Spinal cord lesion,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:10677333, PMID:12427890, PMID:22232211]",y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0001265,Hyporeflexia,Very rare (<4-1%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0006938,Impaired vibration sensation at ankles,Occasional (29-5%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0007024,Pseudobulbar paralysis,Occasional (29-5%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0008209,Premature ovarian insufficiency,Very rare (<4-1%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0040171,Decreased serum testosterone concentration,Very rare (<4-1%),TAS,,,,[PMID:23746551],y,y +GARD:0009587,Orphanet,101006,ORPHA:101006,22,HP:0100660,Dyskinesia,Occasional (29-5%),TAS,,,,[PMID:23746551],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0000012,Urinary urgency,Very frequent (99-80%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0001250,Seizure,Excluded (0%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0002064,Spastic gait,Occasional (29-5%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0002169,Clonus,Frequent (79-30%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0002314,Degeneration of the lateral corticospinal tracts,Very frequent (99-80%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0002921,Abnormality of the cerebrospinal fluid,Excluded (0%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0003457,EMG abnormality,Excluded (0%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0007210,Lower limb amyotrophy,Frequent (79-30%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0007340,Lower limb muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0007350,Hyperreflexia in upper limbs,Occasional (29-5%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0008075,Progressive pes cavus,Occasional (29-5%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0010831,Impaired proprioception,Frequent (79-30%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0012898,Abnormal lower-limb motor evoked potentials,Frequent (79-30%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0030014,Female sexual dysfunction,Frequent (79-30%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0040307,Male sexual dysfunction,Frequent (79-30%),TAS,,,,[PMID:12112072],y,y +GARD:0009588,Orphanet,100999,ORPHA:100999,24,HP:0100561,Spinal cord lesion,Frequent (79-30%),TAS,,,,[PMID:12112072],y,y +GARD:0009589,Orphanet,100995,ORPHA:100995,7,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:10877981],y,y +GARD:0009589,Orphanet,100995,ORPHA:100995,7,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:10877981],y,y +GARD:0009589,Orphanet,100995,ORPHA:100995,7,HP:0001761,Pes cavus,Very frequent (99-80%),TAS,,,,[PMID:10877981],y,y +GARD:0009589,Orphanet,100995,ORPHA:100995,7,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,[PMID:10877981],y,y +GARD:0009589,Orphanet,100995,ORPHA:100995,7,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:10877981],y,y +GARD:0009589,Orphanet,100995,ORPHA:100995,7,HP:0006895,Lower limb hypertonia,Very frequent (99-80%),TAS,,,,[PMID:10877981],y,y +GARD:0009589,Orphanet,100995,ORPHA:100995,7,HP:0007002,Motor axonal neuropathy,Very frequent (99-80%),TAS,,,,[PMID:10877981],y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0000012,Urinary urgency,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0000510,Rod-cone dystrophy,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0001300,Parkinsonism,Very rare (<4-1%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0002061,Lower limb spasticity,Obligate (100%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0002395,Lower limb hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0002619,Varicose veins,Occasional (29-5%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0005340,Spastic/hyperactive bladder,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0005679,Dupuytren contracture,Occasional (29-5%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0006886,Impaired distal vibration sensation,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0006986,Upper limb spasticity,Very rare (<4-1%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0007141,Sensorimotor neuropathy,Occasional (29-5%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0007350,Hyperreflexia in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0008075,Progressive pes cavus,Occasional (29-5%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0008944,Distal lower limb amyotrophy,Very frequent (99-80%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0008969,Leg muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0009129,Upper limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0011448,Ankle clonus,Very rare (<4-1%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0031958,Spastic paraparetic gait,Frequent (79-30%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009590,Orphanet,100991,ORPHA:100991,28,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:10441583, PMID:15452312, PMID:16489470, PMID:18853458, PMID:20301682, PMID:21623771, PMID:25008398, PMID:25352184, PMID:8649538]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0000012,Urinary urgency,Frequent (79-30%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0002314,Degeneration of the lateral corticospinal tracts,Very frequent (99-80%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0002355,Difficulty walking,Very frequent (99-80%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0002406,Limb dysmetria,Frequent (79-30%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0002921,Abnormality of the cerebrospinal fluid,Excluded (0%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0003457,EMG abnormality,Excluded (0%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0006986,Upper limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0007020,Progressive spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0008075,Progressive pes cavus,Frequent (79-30%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0009049,Peroneal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0012898,Abnormal lower-limb motor evoked potentials,Excluded (0%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009591,Orphanet,100989,ORPHA:100989,22,HP:0100561,Spinal cord lesion,Frequent (79-30%),TAS,,,,"[PMID:10797436, PMID:23455931, PMID:9973294, http://www.ncbi.nlm.nih.gov/books/NBK1827]",y,y +GARD:0009595,Orphanet,1195,ORPHA:1195,6,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0009595,Orphanet,1195,ORPHA:1195,6,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009595,Orphanet,1195,ORPHA:1195,6,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,,y,y +GARD:0009595,Orphanet,1195,ORPHA:1195,6,HP:0001732,Abnormality of the pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0009595,Orphanet,1195,ORPHA:1195,6,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009595,Orphanet,1195,ORPHA:1195,6,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0009602,Orphanet,97,ORPHA:97,14,HP:0000360,Tinnitus,Frequent (79-30%),TAS,,,,"[PMID:20129625, PMID:20301674]",y,y +GARD:0009602,Orphanet,97,ORPHA:97,14,HP:0000473,Torticollis,Occasional (29-5%),TAS,,,,"[PMID:20129625, PMID:20301674]",y,y +GARD:0009602,Orphanet,97,ORPHA:97,14,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:20129625, PMID:20301674]",y,y +GARD:0009602,Orphanet,97,ORPHA:97,14,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:20129625, PMID:20301674]",y,y +GARD:0009602,Orphanet,97,ORPHA:97,14,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:20129625, PMID:20301674]",y,y +GARD:0009602,Orphanet,97,ORPHA:97,14,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20129625, PMID:20301674]",y,y +GARD:0009602,Orphanet,97,ORPHA:97,14,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:20129625, PMID:20301674]",y,y +GARD:0009602,Orphanet,97,ORPHA:97,14,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20129625, PMID:20301674]",y,y +GARD:0009602,Orphanet,97,ORPHA:97,14,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:20129625, PMID:20301674]",y,y +GARD:0009602,Orphanet,97,ORPHA:97,14,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:20129625, PMID:20301674]",y,y +GARD:0009602,Orphanet,97,ORPHA:97,14,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:20129625, PMID:20301674]",y,y +GARD:0009602,Orphanet,97,ORPHA:97,14,HP:0002301,Hemiplegia,Frequent (79-30%),TAS,,,,"[PMID:20129625, PMID:20301674]",y,y +GARD:0009602,Orphanet,97,ORPHA:97,14,HP:0002321,Vertigo,Very frequent (99-80%),TAS,,,,"[PMID:20129625, PMID:20301674]",y,y +GARD:0009602,Orphanet,97,ORPHA:97,14,HP:0006855,Cerebellar vermis atrophy,Occasional (29-5%),TAS,,,,"[PMID:20129625, PMID:20301674]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0000012,Urinary urgency,Occasional (29-5%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0000473,Torticollis,Occasional (29-5%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0002067,Bradykinesia,Very rare (<4-1%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0004322,Short stature,Very rare (<4-1%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0006801,Hyperactive deep tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0006886,Impaired distal vibration sensation,Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0008003,Jerky ocular pursuit movements,Occasional (29-5%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0010794,Impaired visuospatial constructive cognition,Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0025331,Upgaze palsy,Very rare (<4-1%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009611,Orphanet,98768,ORPHA:98768,32,HP:0030187,Titubation,Frequent (79-30%),TAS,,,,"[PMID:10820125, PMID:16135769, PMID:23912307, PMID:25981959]",y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000206,Glossitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000597,Ophthalmoparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000716,Depression,Frequent (79-30%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0001872,Abnormality of thrombocytes,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0002103,Abnormal pleura morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0002633,Vasculitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0002637,Cerebral ischemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0002647,Aortic dissection,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0004420,Arterial thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0005112,Abdominal aortic aneurysm,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0005216,Impaired mastication,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0005244,Gastrointestinal infarctions,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0011658,Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0012735,Cough,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0100576,Amaurosis fugax,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0100721,Mediastinal lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0100776,Recurrent pharyngitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009615,Orphanet,397,ORPHA:397,55,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0000012,Urinary urgency,Occasional (29-5%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0000510,Rod-cone dystrophy,Very rare (<4-1%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0002166,Impaired vibration sensation in the lower limbs,Frequent (79-30%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0002839,Urinary bladder sphincter dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009616,Orphanet,100994,ORPHA:100994,16,HP:0007350,Hyperreflexia in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:10677329, PMID:11898127, PMID:18853458]",y,y +GARD:0009620,Orphanet,318,ORPHA:318,8,HP:0001876,Pancytopenia,Frequent (79-30%),TAS,,,,"[PMID:28006859, PMID:3471269, PMID:6589033, PMID:6948132]",y,y +GARD:0009620,Orphanet,318,ORPHA:318,8,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,"[PMID:28006859, PMID:3471269, PMID:6589033, PMID:6948132]",y,y +GARD:0009620,Orphanet,318,ORPHA:318,8,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:28006859, PMID:3471269, PMID:6589033, PMID:6948132]",y,y +GARD:0009620,Orphanet,318,ORPHA:318,8,HP:0004828,Refractory anemia with ringed sideroblasts,Frequent (79-30%),TAS,,,,"[PMID:28006859, PMID:3471269, PMID:6589033, PMID:6948132]",y,y +GARD:0009620,Orphanet,318,ORPHA:318,8,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,"[PMID:28006859, PMID:3471269, PMID:6589033, PMID:6948132]",y,y +GARD:0009620,Orphanet,318,ORPHA:318,8,HP:0012133,Erythroid hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:28006859, PMID:3471269, PMID:6589033, PMID:6948132]",y,y +GARD:0009620,Orphanet,318,ORPHA:318,8,HP:0025035,Abnormal proerythroblast morphology,Frequent (79-30%),TAS,,,,"[PMID:28006859, PMID:3471269, PMID:6589033, PMID:6948132]",y,y +GARD:0009620,Orphanet,318,ORPHA:318,8,HP:0031020,Bone marrow hypercellularity,Frequent (79-30%),TAS,,,,"[PMID:28006859, PMID:3471269, PMID:6589033, PMID:6948132]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0000053,Macroorchidism,Very rare (<4-1%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0000818,Abnormality of the endocrine system,Very rare (<4-1%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0000858,Irregular menstruation,Very rare (<4-1%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0002585,Abnormality of the peritoneum,Occasional (29-5%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0003144,Increased serum serotonin,Very rare (<4-1%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0003270,Abdominal distention,Very rare (<4-1%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0005107,Abnormal sacrum morphology,Occasional (29-5%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0006254,Elevated alpha-fetoprotein,Occasional (29-5%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0008236,Isosexual precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0010785,Gonadal neoplasm,Frequent (79-30%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0012288,Neoplasm of head and neck,Occasional (29-5%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0030061,Neuroectodermal neoplasm,Frequent (79-30%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0030088,Increased serum testosterone level,Very rare (<4-1%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0030338,Abnormal circulating gonadotropin concentration,Frequent (79-30%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0031500,Abdominal mass,Occasional (29-5%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0040231,Abnormal onset of bleeding,Occasional (29-5%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009621,Orphanet,180229,ORPHA:180229,19,HP:0045026,Abnormality of the mediastinum,Occasional (29-5%),TAS,,,,"[PMID:24819795, PMID:26389316, PMID:28429716, PMID:29065103, PMID:73579]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0000338,Hypomimic face,Frequent (79-30%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0001290,Generalized hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0002300,Mutism,Frequent (79-30%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0002322,Resting tremor,Occasional (29-5%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009628,Orphanet,71517,ORPHA:71517,20,HP:0012179,Craniofacial dystonia,Frequent (79-30%),TAS,,,,"[PMID:17282997, PMID:20482602, PMID:22030388, PMID:8255463]",y,y +GARD:0009630,Orphanet,98806,ORPHA:98806,9,HP:0000473,Torticollis,Occasional (29-5%),TAS,,,,"[PMID:17702011, PMID:21110056]",y,y +GARD:0009630,Orphanet,98806,ORPHA:98806,9,HP:0000643,Blepharospasm,Occasional (29-5%),TAS,,,,"[PMID:17702011, PMID:21110056]",y,y +GARD:0009630,Orphanet,98806,ORPHA:98806,9,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:17702011, PMID:21110056]",y,y +GARD:0009630,Orphanet,98806,ORPHA:98806,9,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,"[PMID:17702011, PMID:21110056]",y,y +GARD:0009630,Orphanet,98806,ORPHA:98806,9,HP:0002451,Limb dystonia,Very rare (<4-1%),TAS,,,,"[PMID:17702011, PMID:21110056]",y,y +GARD:0009630,Orphanet,98806,ORPHA:98806,9,HP:0007325,Generalized dystonia,Very frequent (99-80%),TAS,,,,"[PMID:17702011, PMID:21110056]",y,y +GARD:0009630,Orphanet,98806,ORPHA:98806,9,HP:0012049,Laryngeal dystonia,Occasional (29-5%),TAS,,,,"[PMID:17702011, PMID:21110056]",y,y +GARD:0009630,Orphanet,98806,ORPHA:98806,9,HP:0012179,Craniofacial dystonia,Occasional (29-5%),TAS,,,,"[PMID:17702011, PMID:21110056]",y,y +GARD:0009630,Orphanet,98806,ORPHA:98806,9,HP:0031008,Lingual dystonia,Occasional (29-5%),TAS,,,,"[PMID:17702011, PMID:21110056]",y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0000476,Cystic hygroma,Frequent (79-30%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0001059,Pterygium,Occasional (29-5%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0001262,Excessive daytime somnolence,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0001989,Fetal akinesia sequence,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0002089,Pulmonary hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0002304,Akinesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0002375,Hypokinesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0002828,Multiple joint contractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0003700,Generalized amyotrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0005245,Intestinal hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0010489,Absent palmar crease,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009634,Orphanet,994,ORPHA:994,24,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0000976,Eczematoid dermatitis,Very rare (<4-1%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0001036,Parakeratosis,Frequent (79-30%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0001041,Facial erythema,Occasional (29-5%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0001065,Striae distensae,Very frequent (99-80%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0002715,Abnormality of the immune system,Excluded (0%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0004324,Increased body weight,Frequent (79-30%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0008066,Abnormal blistering of the skin,Very rare (<4-1%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0025474,Erythematous plaque,Frequent (79-30%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0025493,Palmoplantar erythema,Very rare (<4-1%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0030350,Erythematous papule,Very frequent (99-80%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0030351,Urticarial plaque,Very frequent (99-80%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0030898,Pruritis on abdomen,Frequent (79-30%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0030899,Pruritis on hand,Occasional (29-5%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0030900,Pruritus on foot,Occasional (29-5%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0030901,Pruritis on breast,Very rare (<4-1%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0031248,Palmar pruritus,Occasional (29-5%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0031538,Abnormal dermoepidermal junction morphology,Occasional (29-5%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0100872,Abnormality of the plantar skin of foot,Occasional (29-5%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009635,Orphanet,64745,ORPHA:64745,20,HP:0200037,Skin vesicle,Frequent (79-30%),TAS,,,,"[PMID:22909357, PMID:30969522, PMID:31903969, PMID:9843004]",y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0000246,Sinusitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0000389,Chronic otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0000509,Conjunctivitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0001581,Recurrent skin infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0002110,Bronchiectasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0002754,Osteomyelitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0004432,Agammaglobulinemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0008572,External ear malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009640,Orphanet,33110,ORPHA:33110,29,HP:0200043,Verrucae,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000474,Thickened nuchal skin fold,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000488,Retinopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000573,Retinal hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000765,Abnormal thorax morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000951,Abnormality of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000974,Hyperextensible skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0001012,Multiple lipomas,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0001061,Acne,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0001065,Striae distensae,Frequent (79-30%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0001102,Angioid streaks of the fundus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0001723,Restrictive cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0001872,Abnormality of thrombocytes,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0002172,Postural instability,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0002617,Vascular dilatation,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0002621,Atherosclerosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0004306,Abnormal endocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0007392,Excessive wrinkled skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0012508,Metamorphopsia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0100545,Arterial stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0100585,Telangiectasia of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0100659,Abnormal cerebral vascular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009643,Orphanet,758,ORPHA:758,42,HP:0100679,Lack of skin elasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0000117,Renal phosphate wasting,Very frequent (99-80%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0001067,Neurofibromas,Very rare (<4-1%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0001850,Abnormality of the tarsal bones,Occasional (29-5%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0002148,Hypophosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0002659,Increased susceptibility to fractures,Frequent (79-30%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0002669,Osteosarcoma,Occasional (29-5%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0002756,Pathologic fracture,Very frequent (99-80%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0002823,Abnormality of femur morphology,Occasional (29-5%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0002982,Tibial bowing,Occasional (29-5%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0002991,Abnormality of fibula morphology,Occasional (29-5%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0003109,Hyperphosphaturia,Very frequent (99-80%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0003155,Elevated circulating alkaline phosphatase concentration,Very frequent (99-80%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0003468,Abnormal vertebral morphology,Very rare (<4-1%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0010622,Neoplasm of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0010734,Fibrous dysplasia of the bones,Occasional (29-5%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0011847,Giant cell tumor of bone,Occasional (29-5%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0012288,Neoplasm of head and neck,Occasional (29-5%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0030731,Carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009652,Orphanet,352540,ORPHA:352540,25,HP:0040163,Abnormal pelvis bone morphology,Occasional (29-5%),TAS,,,,"[PMID:28123260, PMID:30775554, PMID:31301876, PMID:33328210]",y,y +GARD:0009670,Orphanet,329,ORPHA:329,9,HP:0000132,Menorrhagia,Frequent (79-30%),TAS,,,,"[PMID:19141157, PMID:1952475, PMID:27216469, PMID:27710856]",y,y +GARD:0009670,Orphanet,329,ORPHA:329,9,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,"[PMID:19141157, PMID:1952475, PMID:27216469, PMID:27710856]",y,y +GARD:0009670,Orphanet,329,ORPHA:329,9,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,"[PMID:19141157, PMID:1952475, PMID:27216469, PMID:27710856]",y,y +GARD:0009670,Orphanet,329,ORPHA:329,9,HP:0001929,Reduced factor XI activity,Very frequent (99-80%),TAS,,,,"[PMID:19141157, PMID:1952475, PMID:27216469, PMID:27710856]",y,y +GARD:0009670,Orphanet,329,ORPHA:329,9,HP:0002239,Gastrointestinal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:19141157, PMID:1952475, PMID:27216469, PMID:27710856]",y,y +GARD:0009670,Orphanet,329,ORPHA:329,9,HP:0003645,Prolonged partial thromboplastin time,Very frequent (99-80%),TAS,,,,"[PMID:19141157, PMID:1952475, PMID:27216469, PMID:27710856]",y,y +GARD:0009670,Orphanet,329,ORPHA:329,9,HP:0005261,Joint hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:19141157, PMID:1952475, PMID:27216469, PMID:27710856]",y,y +GARD:0009670,Orphanet,329,ORPHA:329,9,HP:0006298,Prolonged bleeding after dental extraction,Very frequent (99-80%),TAS,,,,"[PMID:19141157, PMID:1952475, PMID:27216469, PMID:27710856]",y,y +GARD:0009670,Orphanet,329,ORPHA:329,9,HP:0010989,Abnormality of the intrinsic pathway,Very frequent (99-80%),TAS,,,,"[PMID:19141157, PMID:1952475, PMID:27216469, PMID:27710856]",y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000034,Hydrocele testis,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000041,Chordee,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000048,Bifid scrotum,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000054,Micropenis,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000075,Renal duplication,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000125,Pelvic kidney,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000193,Bifid uvula,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000276,Long face,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000437,Depressed nasal tip,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000480,Retinal coloboma,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000687,Widely spaced teeth,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000692,Tooth malposition,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000735,Impaired social interactions,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0000876,Oligomenorrhea,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001153,Septate vagina,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001159,Syndactyly,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001492,Axenfeld anomaly,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001746,Asplenia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001822,Hallux valgus,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0001848,Calcaneovalgus deformity,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002011,Morphological central nervous system abnormality,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002251,Aganglionic megacolon,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002335,Agenesis of cerebellar vermis,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002427,Expressive aphasia,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002579,Gastrointestinal dysmotility,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002607,Bowel incontinence,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002757,Recurrent fractures,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002777,Tracheal stenosis,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0003763,Bruxism,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0004387,Enterocolitis,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0004961,Pulmonary artery sling,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0005274,Prominent nasal tip,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0006482,Abnormality of dental morphology,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0007042,Focal white matter lesions,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0007048,Large basal ganglia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0007165,Periventricular heterotopia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0007270,Atypical absence seizure,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0009487,Ulnar deviation of the hand,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0009765,Low hanging columella,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0009909,Uplifted earlobe,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0010055,Broad hallux,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0010511,Long toe,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0010761,Broad columella,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0010845,EEG with generalized slow activity,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0010850,EEG with spike-wave complexes,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0010862,Delayed fine motor development,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0011228,Horizontal eyebrow,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0011229,Broad eyebrow,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0011326,Anterior plagiocephaly,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0012081,Enlarged cerebellum,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0012385,Camptodactyly,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0025100,Abnormal hippocampus morphology,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0025156,Dependency on intravenous nutrition,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0030264,Webbed penis,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0032046,Focal cortical dysplasia,Occasional (29-5%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0040082,Happy demeanor,Frequent (79-30%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0410005,Cleft hard palate,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009673,Orphanet,2152,ORPHA:2152,140,HP:0410031,Submucous cleft of soft and hard palate,Very rare (<4-1%),TAS,,,,[PMID:20301585],y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0000413,Atresia of the external auditory canal,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0000932,Abnormal posterior cranial fossa morphology,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0001647,Bicuspid aortic valve,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0001650,Aortic valve stenosis,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0001710,Conotruncal defect,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0001713,Abnormal cardiac ventricle morphology,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0001888,Lymphopenia,Excluded (0%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0002901,Hypocalcemia,Excluded (0%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0004495,Thin anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0005120,Abnormal cardiac atrium morphology,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0005301,Persistent left superior vena cava,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0008619,Bilateral sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0008774,Aplasia/Hypoplasia of the inner ear,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0009892,Anotia,Occasional (29-5%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0011342,Mild global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0011718,Abnormality of the pulmonary veins,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009675,Orphanet,2306,ORPHA:2306,30,HP:0012303,Abnormal aortic arch morphology,Frequent (79-30%),TAS,,,,"[PMID:12548746, PMID:15602090, PMID:3478461, PMID:6587131]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0001626,Abnormality of the cardiovascular system,Excluded (0%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0002747,Respiratory insufficiency due to muscle weakness,Excluded (0%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0003547,Shoulder girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0003552,Muscle stiffness,Excluded (0%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0003698,Difficulty standing,Frequent (79-30%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0003731,Quadriceps muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0003738,Exercise-induced myalgia,Frequent (79-30%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0003749,Pelvic girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0006957,Loss of ability to walk,Occasional (29-5%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0007126,Proximal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0007149,Distal upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0008944,Distal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0008954,Intrinsic hand muscle atrophy,Excluded (0%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0008963,Tibialis muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0008981,Calf muscle hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0009027,Foot dorsiflexor weakness,Occasional (29-5%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0011399,Tibialis atrophy,Frequent (79-30%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0031108,Triceps weakness,Occasional (29-5%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009676,Orphanet,45448,ORPHA:45448,25,HP:0200101,Decreased/absent ankle reflexes,Occasional (29-5%),TAS,,,,"[PMID:19528035, PMID:20301480, PMID:22468107, PMID:30626655]",y,y +GARD:0009677,Orphanet,98962,ORPHA:98962,10,HP:0000495,Recurrent corneal erosions,Frequent (79-30%),TAS,,,,"[PMID:23991378, PMID:31322463, PMID:32366062]",y,y +GARD:0009677,Orphanet,98962,ORPHA:98962,10,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:23991378, PMID:31322463, PMID:32366062]",y,y +GARD:0009677,Orphanet,98962,ORPHA:98962,10,HP:0000531,Corneal crystals,Very frequent (99-80%),TAS,,,,"[PMID:23991378, PMID:31322463, PMID:32366062]",y,y +GARD:0009677,Orphanet,98962,ORPHA:98962,10,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:23991378, PMID:31322463, PMID:32366062]",y,y +GARD:0009677,Orphanet,98962,ORPHA:98962,10,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:23991378, PMID:31322463, PMID:32366062]",y,y +GARD:0009677,Orphanet,98962,ORPHA:98962,10,HP:0007881,Central corneal dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:23991378, PMID:31322463, PMID:32366062]",y,y +GARD:0009677,Orphanet,98962,ORPHA:98962,10,HP:0008039,Subepithelial corneal opacities,Occasional (29-5%),TAS,,,,"[PMID:23991378, PMID:31322463, PMID:32366062]",y,y +GARD:0009677,Orphanet,98962,ORPHA:98962,10,HP:0011493,Central opacification of the cornea,Frequent (79-30%),TAS,,,,"[PMID:23991378, PMID:31322463, PMID:32366062]",y,y +GARD:0009677,Orphanet,98962,ORPHA:98962,10,HP:0011495,Abnormal corneal epithelium morphology,Occasional (29-5%),TAS,,,,"[PMID:23991378, PMID:31322463, PMID:32366062]",y,y +GARD:0009677,Orphanet,98962,ORPHA:98962,10,HP:0200026,Ocular pain,Occasional (29-5%),TAS,,,,"[PMID:23991378, PMID:31322463, PMID:32366062]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0000481,Abnormal cornea morphology,Very frequent (99-80%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0000483,Astigmatism,Frequent (79-30%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0000495,Recurrent corneal erosions,Frequent (79-30%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0000559,Corneal scarring,Very frequent (99-80%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0001149,Lattice corneal dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0007924,Slow decrease in visual acuity,Occasional (29-5%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0008039,Subepithelial corneal opacities,Frequent (79-30%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0008511,Central posterior corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0011003,High myopia,Occasional (29-5%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0011493,Central opacification of the cornea,Very frequent (99-80%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0012040,Corneal stromal edema,Frequent (79-30%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0012155,Decreased corneal sensation,Occasional (29-5%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0025337,Red eye,Frequent (79-30%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009678,Orphanet,98964,ORPHA:98964,17,HP:0200026,Ocular pain,Frequent (79-30%),TAS,,,,"[PMID:18470323, PMID:20806046, PMID:27402970]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0000311,Round face,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0000327,Hypoplasia of the maxilla,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0000517,Abnormality of the lens,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0000677,Oligodontia,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0000692,Tooth malposition,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0001090,Abnormally large globe,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0001566,Widely-spaced maxillary central incisors,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0005037,Proximal radio-ulnar synostosis,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0006152,Proximal symphalangism of hands,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0008368,Tarsal synostosis,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0008625,Severe sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0009466,Radial deviation of finger,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0009608,Complete duplication of proximal phalanx of the thumb,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0009942,Duplication of thumb phalanx,Very frequent (99-80%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0009944,Partial duplication of thumb phalanx,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0009966,Complete duplication of the middle phalanx of the 3rd finger,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0009970,Partial duplication of the proximal phalanx of the 3rd finger,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0010109,Short hallux,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0010554,Cutaneous finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0011078,Abnormality of canine,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0011087,Talon cusp,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0011297,Abnormal digit morphology,Very frequent (99-80%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0012795,Abnormality of the optic disc,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0040022,Clinodactyly of the 2nd finger,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0040159,Abnormal spaced incisors,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0100266,Synostosis of carpals/tarsals,Frequent (79-30%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0100345,Tibial deviation of the 2nd toe,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009679,Orphanet,363417,ORPHA:363417,48,HP:0100347,Tibial deviation of the 5th toe,Occasional (29-5%),TAS,,,,"[PMID:19952732, PMID:21129727, PMID:24269551, PMID:9823490]",y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0000002,Abnormality of body height,Frequent (79-30%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0000090,Nephronophthisis,Very frequent (99-80%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0000510,Rod-cone dystrophy,Very frequent (99-80%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0000946,Hypoplastic ilia,Frequent (79-30%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0001392,Abnormality of the liver,Very frequent (99-80%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0003170,Abnormal acetabulum morphology,Frequent (79-30%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0006824,Cranial nerve paralysis,Frequent (79-30%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0006897,Abducens palsy,Frequent (79-30%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0010585,Small epiphyses,Frequent (79-30%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0011314,Abnormality of long bone morphology,Frequent (79-30%),TAS,,,,[PMID:9375913],y,y +GARD:0009681,Orphanet,140976,ORPHA:140976,19,HP:0040075,Hypopituitarism,Very frequent (99-80%),TAS,,,,[PMID:9375913],y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0000488,Retinopathy,Very frequent (99-80%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0001284,Areflexia,Very rare (<4-1%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0001927,Acanthocytosis,Very rare (<4-1%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0002014,Diarrhea,Obligate (100%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0002155,Hypertriglyceridemia,Excluded (0%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0002570,Steatorrhea,Very frequent (99-80%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0002630,Fat malabsorption,Very frequent (99-80%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0003146,Hypocholesterolemia,Obligate (100%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0003198,Myopathy,Very rare (<4-1%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0003458,EMG: myopathic abnormalities,Occasional (29-5%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0006565,Increased hepatocellular lipid droplets,Frequent (79-30%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0010831,Impaired proprioception,Very rare (<4-1%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009683,Orphanet,71,ORPHA:71,20,HP:0100508,Abnormality of vitamin metabolism,Frequent (79-30%),TAS,,,,"[PMID:20920215, PMID:2426307, PMID:24560855]",y,y +GARD:0009684,Orphanet,71272,ORPHA:71272,13,HP:0000473,Torticollis,Very frequent (99-80%),TAS,,,,"[PMID:16614981, PMID:26697813, PMID:855842]",y,y +GARD:0009684,Orphanet,71272,ORPHA:71272,13,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:16614981, PMID:26697813, PMID:855842]",y,y +GARD:0009684,Orphanet,71272,ORPHA:71272,13,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,"[PMID:16614981, PMID:26697813, PMID:855842]",y,y +GARD:0009684,Orphanet,71272,ORPHA:71272,13,HP:0002036,Hiatus hernia,Frequent (79-30%),TAS,,,,"[PMID:16614981, PMID:26697813, PMID:855842]",y,y +GARD:0009684,Orphanet,71272,ORPHA:71272,13,HP:0002248,Hematemesis,Frequent (79-30%),TAS,,,,"[PMID:16614981, PMID:26697813, PMID:855842]",y,y +GARD:0009684,Orphanet,71272,ORPHA:71272,13,HP:0002457,Abnormal head movements,Very frequent (99-80%),TAS,,,,"[PMID:16614981, PMID:26697813, PMID:855842]",y,y +GARD:0009684,Orphanet,71272,ORPHA:71272,13,HP:0002533,Abnormal posturing,Very frequent (99-80%),TAS,,,,"[PMID:16614981, PMID:26697813, PMID:855842]",y,y +GARD:0009684,Orphanet,71272,ORPHA:71272,13,HP:0002572,Episodic vomiting,Occasional (29-5%),TAS,,,,"[PMID:16614981, PMID:26697813, PMID:855842]",y,y +GARD:0009684,Orphanet,71272,ORPHA:71272,13,HP:0004637,Decreased cervical spine mobility,Frequent (79-30%),TAS,,,,"[PMID:16614981, PMID:26697813, PMID:855842]",y,y +GARD:0009684,Orphanet,71272,ORPHA:71272,13,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:16614981, PMID:26697813, PMID:855842]",y,y +GARD:0009684,Orphanet,71272,ORPHA:71272,13,HP:0012547,Abnormal involuntary eye movements,Frequent (79-30%),TAS,,,,"[PMID:16614981, PMID:26697813, PMID:855842]",y,y +GARD:0009684,Orphanet,71272,ORPHA:71272,13,HP:0100633,Esophagitis,Frequent (79-30%),TAS,,,,"[PMID:16614981, PMID:26697813, PMID:855842]",y,y +GARD:0009684,Orphanet,71272,ORPHA:71272,13,HP:0410019,Epigastric pain,Frequent (79-30%),TAS,,,,"[PMID:16614981, PMID:26697813, PMID:855842]",y,y +GARD:0009690,Orphanet,97332,ORPHA:97332,7,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009690,Orphanet,97332,ORPHA:97332,7,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009690,Orphanet,97332,ORPHA:97332,7,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009690,Orphanet,97332,ORPHA:97332,7,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009690,Orphanet,97332,ORPHA:97332,7,HP:0003019,Abnormality of the wrist,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009690,Orphanet,97332,ORPHA:97332,7,HP:0010885,Avascular necrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009690,Orphanet,97332,ORPHA:97332,7,HP:0010886,Osteochondritis dissecans,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009692,Orphanet,295036,ORPHA:295036,8,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:20270374, PMID:22287971, PMID:23963985, PMID:5651336, PMID:7379383]",y,y +GARD:0009692,Orphanet,295036,ORPHA:295036,8,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:20270374, PMID:22287971, PMID:23963985, PMID:5651336, PMID:7379383]",y,y +GARD:0009692,Orphanet,295036,ORPHA:295036,8,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:20270374, PMID:22287971, PMID:23963985, PMID:5651336, PMID:7379383]",y,y +GARD:0009692,Orphanet,295036,ORPHA:295036,8,HP:0002999,Patellar dislocation,Obligate (100%),TAS,,,,"[PMID:20270374, PMID:22287971, PMID:23963985, PMID:5651336, PMID:7379383]",y,y +GARD:0009692,Orphanet,295036,ORPHA:295036,8,HP:0003066,Limited knee extension,Frequent (79-30%),TAS,,,,"[PMID:20270374, PMID:22287971, PMID:23963985, PMID:5651336, PMID:7379383]",y,y +GARD:0009692,Orphanet,295036,ORPHA:295036,8,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:20270374, PMID:22287971, PMID:23963985, PMID:5651336, PMID:7379383]",y,y +GARD:0009692,Orphanet,295036,ORPHA:295036,8,HP:0006380,Knee flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:20270374, PMID:22287971, PMID:23963985, PMID:5651336, PMID:7379383]",y,y +GARD:0009692,Orphanet,295036,ORPHA:295036,8,HP:0009787,Aplasia/Hypoplasia of the quadriceps,Frequent (79-30%),TAS,,,,"[PMID:20270374, PMID:22287971, PMID:23963985, PMID:5651336, PMID:7379383]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0000070,Ureterocele,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0000075,Renal duplication,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0000110,Renal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0000656,Ectropion,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0001057,Aplasia cutis congenita,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0001059,Pterygium,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0004399,Congenital pyloric atresia,Very frequent (99-80%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0008404,Nail dystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0010477,Aplasia of the bladder,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0011100,Intestinal atresia,Very frequent (99-80%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0012227,Urethral stricture,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0100577,Urinary bladder inflammation,Frequent (79-30%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009694,Orphanet,79403,ORPHA:79403,21,HP:0200097,Oral mucosal blisters,Very frequent (99-80%),TAS,,,,"[PMID:20301336, PMID:20301481, PMID:20507631]",y,y +GARD:0009697,Orphanet,65684,ORPHA:65684,10,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:22032508],y,y +GARD:0009697,Orphanet,65684,ORPHA:65684,10,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,[PMID:22032508],y,y +GARD:0009697,Orphanet,65684,ORPHA:65684,10,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,[PMID:22032508],y,y +GARD:0009697,Orphanet,65684,ORPHA:65684,10,HP:0002398,Degeneration of anterior horn cells,Frequent (79-30%),TAS,,,,[PMID:22032508],y,y +GARD:0009697,Orphanet,65684,ORPHA:65684,10,HP:0002715,Abnormality of the immune system,Occasional (29-5%),TAS,,,,[PMID:22032508],y,y +GARD:0009697,Orphanet,65684,ORPHA:65684,10,HP:0002817,Abnormality of the upper limb,Very frequent (99-80%),TAS,,,,[PMID:22032508],y,y +GARD:0009697,Orphanet,65684,ORPHA:65684,10,HP:0003134,Abnormality of peripheral nerve conduction,Frequent (79-30%),TAS,,,,[PMID:22032508],y,y +GARD:0009697,Orphanet,65684,ORPHA:65684,10,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,[PMID:22032508],y,y +GARD:0009697,Orphanet,65684,ORPHA:65684,10,HP:0007149,Distal upper limb amyotrophy,Very frequent (99-80%),TAS,,,,[PMID:22032508],y,y +GARD:0009697,Orphanet,65684,ORPHA:65684,10,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,[PMID:22032508],y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000050,Hypoplastic male external genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000190,Abnormal oral frenulum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000204,Cleft upper lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000356,Abnormality of the outer ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000464,Abnormality of the neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000766,Abnormal sternum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0001636,Tetralogy of Fallot,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0001869,Deep plantar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0004378,Abnormality of the anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0004415,Pulmonary artery stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0006443,Patellar aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0009698,Orphanet,96167,ORPHA:96167,46,HP:0100729,Large face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009704,Orphanet,85287,ORPHA:85287,12,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:10398231],y,y +GARD:0009704,Orphanet,85287,ORPHA:85287,12,HP:0000202,Oral cleft,Very frequent (99-80%),TAS,,,,[PMID:10398231],y,y +GARD:0009704,Orphanet,85287,ORPHA:85287,12,HP:0000204,Cleft upper lip,Very frequent (99-80%),TAS,,,,[PMID:10398231],y,y +GARD:0009704,Orphanet,85287,ORPHA:85287,12,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,[PMID:10398231],y,y +GARD:0009704,Orphanet,85287,ORPHA:85287,12,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,[PMID:10398231],y,y +GARD:0009704,Orphanet,85287,ORPHA:85287,12,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,[PMID:10398231],y,y +GARD:0009704,Orphanet,85287,ORPHA:85287,12,HP:0001176,Large hands,Very frequent (99-80%),TAS,,,,[PMID:10398231],y,y +GARD:0009704,Orphanet,85287,ORPHA:85287,12,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,[PMID:10398231],y,y +GARD:0009704,Orphanet,85287,ORPHA:85287,12,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:10398231],y,y +GARD:0009704,Orphanet,85287,ORPHA:85287,12,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,[PMID:10398231],y,y +GARD:0009704,Orphanet,85287,ORPHA:85287,12,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:10398231],y,y +GARD:0009704,Orphanet,85287,ORPHA:85287,12,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,[PMID:10398231],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0001030,Fragile skin,Very frequent (99-80%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0001581,Recurrent skin infections,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0002289,Alopecia universalis,Frequent (79-30%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0005218,Anoperineal fistula,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0006482,Abnormality of dental morphology,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0007502,Follicular hyperkeratosis,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0012227,Urethral stricture,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0030809,Abnormal tongue morphology,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0040181,Chapped lip,Frequent (79-30%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0040189,Scaling skin,Frequent (79-30%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0100699,Scarring,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009705,Orphanet,158668,ORPHA:158668,26,HP:0100825,Cheilitis,Occasional (29-5%),TAS,,,,[PMID:32248567],y,y +GARD:0009707,Orphanet,211,ORPHA:211,2,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009707,Orphanet,211,ORPHA:211,2,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000085,Horseshoe kidney,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000341,Narrow forehead,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0001399,Hepatic failure,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0001406,Intrahepatic cholestasis,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0001830,Postaxial foot polydactyly,Very frequent (99-80%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0001883,Talipes,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0002308,Chiari malformation,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0002435,Meningocele,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0004823,Anisopoikilocytosis,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0005487,Prominent metopic ridge,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0007759,Opacification of the corneal stroma,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0008278,Cerebellar cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0011875,Abnormal platelet morphology,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009711,Orphanet,46059,ORPHA:46059,45,HP:0100711,Abnormal thoracic spine morphology,Frequent (79-30%),TAS,,,,"[PMID:17853487, PMID:24142275]",y,y +GARD:0009715,Orphanet,79478,ORPHA:79478,3,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,[PMID:26337734],y,y +GARD:0009715,Orphanet,79478,ORPHA:79478,3,HP:0007443,Partial albinism,Occasional (29-5%),TAS,,,,[PMID:26337734],y,y +GARD:0009715,Orphanet,79478,ORPHA:79478,3,HP:0007730,Iris hypopigmentation,Occasional (29-5%),TAS,,,,[PMID:26337734],y,y +GARD:0009723,Orphanet,1883,ORPHA:1883,14,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009723,Orphanet,1883,ORPHA:1883,14,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0009723,Orphanet,1883,ORPHA:1883,14,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009723,Orphanet,1883,ORPHA:1883,14,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0009723,Orphanet,1883,ORPHA:1883,14,HP:0002208,Coarse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0009723,Orphanet,1883,ORPHA:1883,14,HP:0002299,Brittle hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0009723,Orphanet,1883,ORPHA:1883,14,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009723,Orphanet,1883,ORPHA:1883,14,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009723,Orphanet,1883,ORPHA:1883,14,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009723,Orphanet,1883,ORPHA:1883,14,HP:0007529,Hidrotic ectodermal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009723,Orphanet,1883,ORPHA:1883,14,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009723,Orphanet,1883,ORPHA:1883,14,HP:0009183,Joint contracture of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009723,Orphanet,1883,ORPHA:1883,14,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009723,Orphanet,1883,ORPHA:1883,14,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0009728,Orphanet,606,ORPHA:606,2,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009728,Orphanet,606,ORPHA:606,2,HP:0002486,Myotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009729,Orphanet,101009,ORPHA:101009,14,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:16130112],y,y +GARD:0009729,Orphanet,101009,ORPHA:101009,14,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,[PMID:16130112],y,y +GARD:0009729,Orphanet,101009,ORPHA:101009,14,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,[PMID:16130112],y,y +GARD:0009729,Orphanet,101009,ORPHA:101009,14,HP:0002034,Abnormal rectum morphology,Very rare (<4-1%),TAS,,,,[PMID:16130112],y,y +GARD:0009729,Orphanet,101009,ORPHA:101009,14,HP:0002036,Hiatus hernia,Frequent (79-30%),TAS,,,,[PMID:16130112],y,y +GARD:0009729,Orphanet,101009,ORPHA:101009,14,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,[PMID:16130112],y,y +GARD:0009729,Orphanet,101009,ORPHA:101009,14,HP:0002395,Lower limb hyperreflexia,Very frequent (99-80%),TAS,,,,[PMID:16130112],y,y +GARD:0009729,Orphanet,101009,ORPHA:101009,14,HP:0002495,Impaired vibratory sensation,Occasional (29-5%),TAS,,,,[PMID:16130112],y,y +GARD:0009729,Orphanet,101009,ORPHA:101009,14,HP:0002904,Hyperbilirubinemia,Frequent (79-30%),TAS,,,,[PMID:16130112],y,y +GARD:0009729,Orphanet,101009,ORPHA:101009,14,HP:0003487,Babinski sign,Very frequent (99-80%),TAS,,,,[PMID:16130112],y,y +GARD:0009729,Orphanet,101009,ORPHA:101009,14,HP:0007350,Hyperreflexia in upper limbs,Occasional (29-5%),TAS,,,,[PMID:16130112],y,y +GARD:0009729,Orphanet,101009,ORPHA:101009,14,HP:0010831,Impaired proprioception,Very rare (<4-1%),TAS,,,,[PMID:16130112],y,y +GARD:0009729,Orphanet,101009,ORPHA:101009,14,HP:0010936,Abnormality of the lower urinary tract,Occasional (29-5%),TAS,,,,[PMID:16130112],y,y +GARD:0009729,Orphanet,101009,ORPHA:101009,14,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,[PMID:16130112],y,y +GARD:0009730,Orphanet,34587,ORPHA:34587,6,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009730,Orphanet,34587,ORPHA:34587,6,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009730,Orphanet,34587,ORPHA:34587,6,HP:0001639,Hypertrophic cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009730,Orphanet,34587,ORPHA:34587,6,HP:0001644,Dilated cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009730,Orphanet,34587,ORPHA:34587,6,HP:0006543,Cardiorespiratory arrest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009730,Orphanet,34587,ORPHA:34587,6,HP:0010547,Muscle flaccidity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009736,Orphanet,79394,ORPHA:79394,13,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0009736,Orphanet,79394,ORPHA:79394,13,HP:0000491,Keratitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009736,Orphanet,79394,ORPHA:79394,13,HP:0000656,Ectropion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009736,Orphanet,79394,ORPHA:79394,13,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009736,Orphanet,79394,ORPHA:79394,13,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,,y,y +GARD:0009736,Orphanet,79394,ORPHA:79394,13,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009736,Orphanet,79394,ORPHA:79394,13,HP:0001019,Erythroderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009736,Orphanet,79394,ORPHA:79394,13,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0009736,Orphanet,79394,ORPHA:79394,13,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009736,Orphanet,79394,ORPHA:79394,13,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0009736,Orphanet,79394,ORPHA:79394,13,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0009736,Orphanet,79394,ORPHA:79394,13,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009736,Orphanet,79394,ORPHA:79394,13,HP:0200020,Corneal erosion,Frequent (79-30%),TAS,,,,,y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0000992,Cutaneous photosensitivity,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0001034,Hypermelanotic macule,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0001056,Milia,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0001070,Mottled pigmentation,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0002164,Nail dysplasia,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0003341,Lamina lucida cleavage,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0005590,Spotty hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0007427,Reticulated skin pigmentation,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0007556,Plantar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0007585,Skin fragility with non-scarring blistering,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0009123,Mixed hypo- and hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0009719,Hypomelanotic macule,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0010765,Palmar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0045059,Hyperkeratotic papule,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009737,Orphanet,79397,ORPHA:79397,19,HP:0200097,Oral mucosal blisters,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:22640275, PMID:30690752, PMID:32884918]",y,y +GARD:0009741,Orphanet,137754,ORPHA:137754,13,HP:0000316,Hypertelorism,Very rare (<4-1%),TAS,,,,"[PMID:16465618, PMID:17562838, PMID:24117009]",y,y +GARD:0009741,Orphanet,137754,ORPHA:137754,13,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:16465618, PMID:17562838, PMID:24117009]",y,y +GARD:0009741,Orphanet,137754,ORPHA:137754,13,HP:0000445,Wide nose,Very rare (<4-1%),TAS,,,,"[PMID:16465618, PMID:17562838, PMID:24117009]",y,y +GARD:0009741,Orphanet,137754,ORPHA:137754,13,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:16465618, PMID:17562838, PMID:24117009]",y,y +GARD:0009741,Orphanet,137754,ORPHA:137754,13,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16465618, PMID:17562838, PMID:24117009]",y,y +GARD:0009741,Orphanet,137754,ORPHA:137754,13,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:16465618, PMID:17562838, PMID:24117009]",y,y +GARD:0009741,Orphanet,137754,ORPHA:137754,13,HP:0001298,Encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:16465618, PMID:17562838, PMID:24117009]",y,y +GARD:0009741,Orphanet,137754,ORPHA:137754,13,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:16465618, PMID:17562838, PMID:24117009]",y,y +GARD:0009741,Orphanet,137754,ORPHA:137754,13,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:16465618, PMID:17562838, PMID:24117009]",y,y +GARD:0009741,Orphanet,137754,ORPHA:137754,13,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:16465618, PMID:17562838, PMID:24117009]",y,y +GARD:0009741,Orphanet,137754,ORPHA:137754,13,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,"[PMID:16465618, PMID:17562838, PMID:24117009]",y,y +GARD:0009741,Orphanet,137754,ORPHA:137754,13,HP:0006817,Aplasia/Hypoplasia of the cerebellar vermis,Occasional (29-5%),TAS,,,,"[PMID:16465618, PMID:17562838, PMID:24117009]",y,y +GARD:0009741,Orphanet,137754,ORPHA:137754,13,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:16465618, PMID:17562838, PMID:24117009]",y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0000290,Abnormality of the forehead,Occasional (29-5%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0000306,Abnormality of the chin,Frequent (79-30%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0000464,Abnormality of the neck,Occasional (29-5%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0001067,Neurofibromas,Occasional (29-5%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0001075,Atrophic scars,Very frequent (99-80%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0004426,Abnormality of the cheek,Very frequent (99-80%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0007502,Follicular hyperkeratosis,Frequent (79-30%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0007515,Hypoplastic pilosebaceous units,Very frequent (99-80%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0011124,Abnormal epidermal morphology,Very frequent (99-80%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0012531,Pain,Occasional (29-5%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0012722,Heart block,Occasional (29-5%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0045059,Hyperkeratotic papule,Frequent (79-30%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0100276,Skin pit,Very frequent (99-80%),TAS,,,,[PMID:29386852],y,y +GARD:0009744,Orphanet,79100,ORPHA:79100,17,HP:0100277,Periauricular skin pits,Frequent (79-30%),TAS,,,,[PMID:29386852],y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0000099,Glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0001009,Telangiectasia,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0001232,Nail bed telangiectasia,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0001581,Recurrent skin infections,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0001708,Right ventricular failure,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002031,Abnormal esophagus morphology,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002206,Pulmonary fibrosis,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002244,Abnormality of the small intestine,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002250,Abnormal large intestine morphology,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002577,Abnormal stomach morphology,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002584,Intestinal bleeding,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002604,Gastrointestinal telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002617,Vascular dilatation,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0003493,Antinuclear antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0005590,Spotty hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0006121,Acral ulceration,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0006261,Abnormal phalangeal joint morphology of the hand,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0006530,Abnormal pulmonary interstitial morphology,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0007400,Irregular hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0009771,Osteolytic defects of the phalanges of the hand,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0011024,Abnormality of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0011799,Abnormality of facial soft tissue,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0011838,Sclerodactyly,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0012185,Constrictive median neuropathy,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0012592,Albuminuria,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0012622,Chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0025131,Finger swelling,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0025520,Calcinosis cutis,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0030859,Anti-topoisomerase I antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0030873,Anti-centromere antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0030880,Raynaud phenomenon,Very frequent (99-80%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0031293,Digital pitting scar,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0031329,Interstitial cardiac fibrosis,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0031359,Cutaneous sclerotic plaque,Very frequent (99-80%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0031917,Digital ulcer,Frequent (79-30%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0100580,Barrett esophagus,Occasional (29-5%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009748,Orphanet,90291,ORPHA:90291,64,HP:0100758,Gangrene,Very rare (<4-1%),TAS,,,,"[PMID:26577237, PMID:28792092, PMID:31498665]",y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0000217,Xerostomia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0000951,Abnormality of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0002113,Pulmonary infiltrates,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0002206,Pulmonary fibrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0002797,Osteolysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0030016,Dyspareunia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0030142,Abnormal bowel sounds,Occasional (29-5%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0100520,Oliguria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0100735,Hypertensive crisis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0100958,Narrow foramen obturatorium,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009751,Orphanet,220393,ORPHA:220393,26,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0000124,Renal tubular dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0000481,Abnormal cornea morphology,Frequent (79-30%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0000531,Corneal crystals,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0000580,Pigmentary retinopathy,Frequent (79-30%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0001941,Acidosis,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0001959,Polydipsia,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0001969,Abnormal tubulointerstitial morphology,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0001994,Renal Fanconi syndrome,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0002148,Hypophosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0002748,Rickets,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0002926,Abnormality of thyroid physiology,Frequent (79-30%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0003076,Glycosuria,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0003109,Hyperphosphaturia,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0003111,Abnormal blood ion concentration,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0003126,Low-molecular-weight proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0004918,Hyperchloremic metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0100511,Abnormality of vitamin D metabolism,Very frequent (99-80%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009755,Orphanet,411629,ORPHA:411629,27,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:18075494, PMID:21980659, PMID:25165189]",y,y +GARD:0009756,Orphanet,411641,ORPHA:411641,4,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,"[PMID:10625078, PMID:25345100]",y,y +GARD:0009756,Orphanet,411641,ORPHA:411641,4,HP:0000531,Corneal crystals,Very frequent (99-80%),TAS,,,,"[PMID:10625078, PMID:25345100]",y,y +GARD:0009756,Orphanet,411641,ORPHA:411641,4,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,"[PMID:10625078, PMID:25345100]",y,y +GARD:0009756,Orphanet,411641,ORPHA:411641,4,HP:0032639,Elevated leukocyte cystine,Very frequent (99-80%),TAS,,,,"[PMID:10625078, PMID:25345100]",y,y +GARD:0009759,Orphanet,2387,ORPHA:2387,8,HP:0000498,Blepharitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009759,Orphanet,2387,ORPHA:2387,8,HP:0000499,Abnormal eyelash morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0009759,Orphanet,2387,ORPHA:2387,8,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,,y,y +GARD:0009759,Orphanet,2387,ORPHA:2387,8,HP:0000787,Nephrolithiasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009759,Orphanet,2387,ORPHA:2387,8,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009759,Orphanet,2387,ORPHA:2387,8,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009759,Orphanet,2387,ORPHA:2387,8,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009759,Orphanet,2387,ORPHA:2387,8,HP:0009720,Adenoma sebaceum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0000202,Oral cleft,Very rare (<4-1%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0001385,Hip dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0001598,Concave nail,Frequent (79-30%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0001792,Small nail,Frequent (79-30%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0001798,Anonychia,Occasional (29-5%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0001816,Thin nail,Very frequent (99-80%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0004691,2-3 toe syndactyly,Very rare (<4-1%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0005918,Abnormal finger phalanx morphology,Frequent (79-30%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0008401,Onychogryposis of toenails,Frequent (79-30%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0009951,Partial duplication of the distal phalanx of the 2nd finger,Frequent (79-30%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0010793,Bifid nail,Very frequent (99-80%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0011313,Narrow nail,Frequent (79-30%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0012203,Onychomycosis,Occasional (29-5%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0012296,Slender distal phalanx of finger,Very rare (<4-1%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0012710,Ingrown nail,Occasional (29-5%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0030803,Platonychia,Frequent (79-30%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0030805,Absent lunula,Very frequent (99-80%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0031282,Malalignment of the great toenail,Frequent (79-30%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0040036,Onychogryposis of fingernail,Frequent (79-30%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0100797,Toenail dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009761,Orphanet,79144,ORPHA:79144,22,HP:0100798,Fingernail dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:11030770, PMID:26131880, PMID:31685224]",y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0000437,Depressed nasal tip,Very frequent (99-80%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0002667,Nephroblastoma,Occasional (29-5%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0002697,Parietal foramina,Frequent (79-30%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0004331,Decreased skull ossification,Very frequent (99-80%),TAS,,,,[PMID:20140962],y,y +GARD:0009762,Orphanet,52022,ORPHA:52022,23,HP:0100777,Exostoses,Very frequent (99-80%),TAS,,,,[PMID:20140962],y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0001543,Gastroschisis,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0001941,Acidosis,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0001942,Metabolic acidosis,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0002151,Increased serum lactate,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0002586,Peritonitis,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0003074,Hyperglycemia,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0005521,Disseminated intravascular coagulation,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0005968,Temperature instability,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0011014,Abnormal glucose homeostasis,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0012537,Food intolerance,Frequent (79-30%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0025085,Bloody diarrhea,Frequent (79-30%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0031273,Shock,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009767,Orphanet,391673,ORPHA:391673,29,HP:0040187,Neonatal sepsis,Occasional (29-5%),TAS,,,,"[PMID:29196510, PMID:30691547, PMID:30793842]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0000464,Abnormality of the neck,Frequent (79-30%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0001034,Hypermelanotic macule,Occasional (29-5%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0001369,Arthritis,Very rare (<4-1%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0002046,Heat intolerance,Occasional (29-5%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0007456,Progressive reticulate hyperpigmentation,Very frequent (99-80%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0009123,Mixed hypo- and hyperpigmentation of the skin,Very rare (<4-1%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0010610,Palmar pits,Very rare (<4-1%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0011354,Generalized abnormality of skin,Very rare (<4-1%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0012855,Scrotal hyperpigmentation,Occasional (29-5%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0020073,Hypopigmented macule,Very rare (<4-1%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0025473,Hyperpigmented papule,Occasional (29-5%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0030052,Inguinal freckling,Frequent (79-30%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0030350,Erythematous papule,Occasional (29-5%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0030442,Anal margin squamous cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0031293,Digital pitting scar,Occasional (29-5%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0031447,Penile freckling,Occasional (29-5%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0031525,Keratoacanthoma,Very rare (<4-1%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0040154,Acne inversa,Occasional (29-5%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0045059,Hyperkeratotic papule,Occasional (29-5%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0200037,Skin vesicle,Very rare (<4-1%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009775,Orphanet,79145,ORPHA:79145,25,HP:0200040,Epidermoid cyst,Very rare (<4-1%),TAS,,,,"[PMID:30285365, PMID:33368260]",y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0004299,Hernia of the abdominal wall,Frequent (79-30%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0010804,Tented upper lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0009781,Orphanet,1762,ORPHA:1762,18,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0000016,Urinary retention,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0001722,High-output congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0002138,Subarachnoid hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0002196,Myelopathy,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0002390,Spinal arteriovenous malformation,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0002408,Cerebral arteriovenous malformation,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0002617,Vascular dilatation,Frequent (79-30%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0002619,Varicose veins,Frequent (79-30%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0002814,Abnormality of the lower limb,Very frequent (99-80%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0002817,Abnormality of the upper limb,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0002936,Distal sensory impairment,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0004947,Arteriovenous fistula,Frequent (79-30%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0004948,Vascular tortuosity,Frequent (79-30%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0005521,Disseminated intravascular coagulation,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0006489,Abnormality of the femoral metaphysis,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0007340,Lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0007394,Prominent superficial blood vessels,Frequent (79-30%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0007461,Hemangiomatosis,Very rare (<4-1%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0008968,Muscle hypertrophy of the lower extremities,Frequent (79-30%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0010484,Hypertrophy of the upper limb,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0010550,Paraplegia,Very rare (<4-1%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0012514,Lower limb pain,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0012721,Venous malformation,Frequent (79-30%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0025104,Capillary malformation,Frequent (79-30%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0025474,Erythematous plaque,Frequent (79-30%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0030833,Neck pain,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0031138,Abnormal B-type natriuretic peptide level,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0031939,Conus terminalis arteriovenous malformation,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0032555,Bounding pulse,Frequent (79-30%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0100026,Arteriovenous malformation,Very frequent (99-80%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0100553,Hemihypertrophy of lower limb,Frequent (79-30%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0100766,Abnormal lymphatic vessel morphology,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0100775,Dural ectasia,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0100784,Peripheral arteriovenous fistula,Frequent (79-30%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009787,Orphanet,90307,ORPHA:90307,44,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:27511883, PMID:28645597, PMID:30852501, PMID:31086946]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0000363,Abnormal earlobe morphology,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0001440,Metatarsal synostosis,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0001769,Broad foot,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0001776,Bilateral talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0002654,Multiple epiphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0002812,Coxa vara,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0002947,Cervical kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0002986,Radial bowing,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0003016,Metaphyseal widening,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0003031,Ulnar bowing,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0003071,Flattened epiphysis,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0003088,Premature osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0003365,Arthralgia of the hip,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0003498,Disproportionate short stature,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0004002,Flattened radial epiphyses,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0004037,Abnormality of the ulnar epiphyses,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0005922,Abnormal hand morphology,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0006429,Broad femoral neck,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0008434,Hypoplastic cervical vertebrae,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0008807,Acetabular dysplasia,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0008826,Dislocation of the femoral head,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0008829,Delayed femoral head ossification,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0008848,Moderately short stature,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0008905,Rhizomelia,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0009381,Short finger,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0009471,Contracture of the proximal interphalangeal joint of the 3rd finger,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0009487,Ulnar deviation of the hand,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0009778,Short thumb,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0009824,Upper limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0010049,Short metacarpal,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0010743,Short metatarsal,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0025264,Stiff ankle,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0030289,Flattened femoral epiphysis,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0031006,Acroparesthesia,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0031174,Double-layered patella,Frequent (79-30%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0031878,Acromicria,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0032649,Skewfoot,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0040072,Abnormality of forearm bone,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009793,Orphanet,93307,ORPHA:93307,58,HP:0100864,Short femoral neck,Occasional (29-5%),TAS,,,,"[PMID:20301483, PMID:29024831, PMID:30423444]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0001384,Abnormal hip joint morphology,Frequent (79-30%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0001385,Hip dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0003088,Premature osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0003170,Abnormal acetabulum morphology,Occasional (29-5%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0003184,Decreased hip abduction,Occasional (29-5%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0003365,Arthralgia of the hip,Occasional (29-5%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0003418,Back pain,Very rare (<4-1%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0003502,Mild short stature,Frequent (79-30%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0003839,Abnormality of upper limb epiphysis morphology,Frequent (79-30%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0004268,Osteoarthritis of the small joints of the hand,Occasional (29-5%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0005877,Multiple small vertebral fractures,Occasional (29-5%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0008419,Intervertebral disc degeneration,Occasional (29-5%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0008800,Limited hip movement,Occasional (29-5%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0008828,Delayed proximal femoral epiphyseal ossification,Very frequent (99-80%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0010631,Abnormality of the epiphyses of the feet,Frequent (79-30%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0030839,Knee pain,Frequent (79-30%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009794,Orphanet,93311,ORPHA:93311,23,HP:0030840,Ankle pain,Occasional (29-5%),TAS,,,,"[PMID:14994237, PMID:20301302, PMID:24629099]",y,y +GARD:0009795,Orphanet,34217,ORPHA:34217,14,HP:0000204,Cleft upper lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0009795,Orphanet,34217,ORPHA:34217,14,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,,y,y +GARD:0009795,Orphanet,34217,ORPHA:34217,14,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0009795,Orphanet,34217,ORPHA:34217,14,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009795,Orphanet,34217,ORPHA:34217,14,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,,y,y +GARD:0009795,Orphanet,34217,ORPHA:34217,14,HP:0001638,Cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009795,Orphanet,34217,ORPHA:34217,14,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0009795,Orphanet,34217,ORPHA:34217,14,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0009795,Orphanet,34217,ORPHA:34217,14,HP:0002212,Curly hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0009795,Orphanet,34217,ORPHA:34217,14,HP:0002224,Woolly hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009795,Orphanet,34217,ORPHA:34217,14,HP:0002321,Vertigo,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009795,Orphanet,34217,ORPHA:34217,14,HP:0004751,Paroxysmal ventricular tachycardia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009795,Orphanet,34217,ORPHA:34217,14,HP:0010719,Abnormality of hair texture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009795,Orphanet,34217,ORPHA:34217,14,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000162,Glossoptosis,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000171,Microglossia,Occasional (29-5%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000183,Difficulty in tongue movements,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0000689,Dental malocclusion,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0007627,Mandibular condyle aplasia,Occasional (29-5%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0007628,Mandibular condyle hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0008572,External ear malformation,Very frequent (99-80%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0008772,Aplasia/Hypoplasia of the external ear,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0009895,Abnormality of the crus of the helix,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0009902,Cleft helix,Very frequent (99-80%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0010754,Abnormality of the temporomandibular joint,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0011802,Hamartoma of tongue,Occasional (29-5%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0025267,Snoring,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0030022,Question mark ear,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0030713,Vein of Galen aneurysmal malformation,Very rare (<4-1%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009798,Orphanet,137888,ORPHA:137888,34,HP:0100277,Periauricular skin pits,Frequent (79-30%),TAS,,,,"[PMID:16114046, PMID:20733479, PMID:23315542]",y,y +GARD:0009799,Orphanet,53296,ORPHA:53296,7,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0009799,Orphanet,53296,ORPHA:53296,7,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0009799,Orphanet,53296,ORPHA:53296,7,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0009799,Orphanet,53296,ORPHA:53296,7,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009799,Orphanet,53296,ORPHA:53296,7,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,,y,y +GARD:0009799,Orphanet,53296,ORPHA:53296,7,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009799,Orphanet,53296,ORPHA:53296,7,HP:0200036,Skin nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0000952,Jaundice,Very rare (<4-1%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0000988,Skin rash,Excluded (0%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0001082,Cholecystitis,Very rare (<4-1%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0001337,Tremor,Very rare (<4-1%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0001518,Small for gestational age,Very rare (<4-1%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0001541,Ascites,Very rare (<4-1%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0001622,Premature birth,Very rare (<4-1%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0001732,Abnormality of the pancreas,Very rare (<4-1%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0002027,Abdominal pain,Very rare (<4-1%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0002643,Neonatal respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0002904,Hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0002960,Autoimmunity,Excluded (0%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0003155,Elevated circulating alkaline phosphatase concentration,Occasional (29-5%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0012164,Asterixis,Very rare (<4-1%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0012202,Increased serum bile acid concentration,Very frequent (99-80%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0012420,Meconium stained amniotic fluid,Occasional (29-5%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0012689,Abnormal pineal melatonin secretion,Occasional (29-5%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0025031,Abnormality of the digestive system,Frequent (79-30%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0030782,Abnormal circulating interleukin concentration,Occasional (29-5%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0030900,Pruritus on foot,Occasional (29-5%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0031248,Palmar pruritus,Occasional (29-5%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0100602,Preeclampsia,Occasional (29-5%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009804,Orphanet,69665,ORPHA:69665,27,HP:0100785,Insomnia,Frequent (79-30%),TAS,,,,"[PMID:29480924, PMID:31355915, PMID:32034507, PMID:32942322]",y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0000327,Hypoplasia of the maxilla,Occasional (29-5%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0002225,Sparse pubic hair,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0003191,Cleft ala nasi,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0003782,Eunuchoid habitus,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0008232,Elevated circulating follicle stimulating hormone level,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0008988,Pelvic girdle muscle atrophy,Occasional (29-5%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0011969,Elevated circulating luteinizing hormone level,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0012809,Narrow nasal base,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0100651,Type I diabetes mellitus,Very frequent (99-80%),TAS,,,,[PMID:2107046],y,y +GARD:0009811,Orphanet,3044,ORPHA:3044,22,HP:0100783,Breast aplasia,Frequent (79-30%),TAS,,,,[PMID:2107046],y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0000662,Nyctalopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0001080,Biliary tract abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0001928,Abnormality of coagulation,Frequent (79-30%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0002239,Gastrointestinal hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0006566,Neonatal cholestatic liver disease,Very frequent (99-80%),TAS,,,,,y,y +GARD:0009813,Orphanet,79301,ORPHA:79301,16,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0000716,Depression,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0001370,Rheumatoid arthritis,Occasional (29-5%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0002067,Bradykinesia,Occasional (29-5%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0002166,Impaired vibration sensation in the lower limbs,Occasional (29-5%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0002601,Paresis of extensor muscles of the big toe,Occasional (29-5%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0003785,Decreased CSF homovanillic acid concentration,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0004373,Focal dystonia,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0005876,Progressive flexion contractures,Occasional (29-5%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0007325,Generalized dystonia,Occasional (29-5%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0008297,Transient hyperphenylalaninemia,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009817,Orphanet,98808,ORPHA:98808,34,HP:0045007,Abnormal substantia nigra morphology,Frequent (79-30%),TAS,,,,"[PMID:11346370, PMID:12084887, PMID:16908750, PMID:1899474, PMID:20482602, PMID:22030388, PMID:3762960, PMID:942621]",y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0000202,Oral cleft,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0000618,Blindness,Frequent (79-30%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0000882,Hypoplastic scapulae,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0002571,Achalasia,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0007325,Generalized dystonia,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0008796,Externally rotated hips,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009818,Orphanet,79107,ORPHA:79107,21,HP:0100613,Death in early adulthood,Very frequent (99-80%),TAS,,,,[PMID:12325076],y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0000077,Abnormality of the kidney,Very rare (<4-1%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0001681,Angina pectoris,Very rare (<4-1%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0001937,Microangiopathic hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0001977,Abnormal thrombosis,Very frequent (99-80%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0002072,Chorea,Very rare (<4-1%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0002092,Pulmonary arterial hypertension,Very rare (<4-1%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0002625,Deep venous thrombosis,Frequent (79-30%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0002638,Superficial thrombophlebitis,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0002641,Peripheral thrombosis,Frequent (79-30%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0003613,Antiphospholipid antibody positivity,Obligate (100%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0004420,Arterial thrombosis,Frequent (79-30%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0004844,Coombs-positive hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0004936,Venous thrombosis,Frequent (79-30%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0005244,Gastrointestinal infarctions,Very rare (<4-1%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0005268,Miscarriage,Frequent (79-30%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0006846,Acute encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0010885,Avascular necrosis,Very rare (<4-1%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0011112,Abnormality of serum cytokine level,Frequent (79-30%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0012819,Myocarditis,Very rare (<4-1%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0020136,Anticardiolipin IgG antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0025324,Arterial occlusion,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0025326,Retinal arterial occlusion,Very rare (<4-1%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0025343,Lupus anticoagulant,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0031653,Abnormal heart valve physiology,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0032376,Anti-beta 2 glycoprotein I antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0100576,Amaurosis fugax,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0100601,Eclampsia,Very rare (<4-1%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0100602,Preeclampsia,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0100758,Gangrene,Very rare (<4-1%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009820,Orphanet,464343,ORPHA:464343,45,HP:3000042,Abnormal jugular vein morphology,Very rare (<4-1%),TAS,,,,"[PMID:28262233, PMID:28488841, PMID:30205764]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000044,Hypogonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000091,Abnormal renal tubule morphology,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000842,Hyperinsulinemia,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000845,Elevated circulating growth hormone concentration,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000855,Insulin resistance,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000870,Increased circulating prolactin concentration,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000926,Platyspondyly,Very rare (<4-1%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001004,Lymphedema,Very rare (<4-1%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001305,Dandy-Walker malformation,Very rare (<4-1%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001395,Hepatic fibrosis,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001639,Hypertrophic cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001681,Angina pectoris,Very rare (<4-1%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001701,Pericarditis,Very rare (<4-1%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001929,Reduced factor XI activity,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001976,Reduced antithrombin III activity,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0002170,Intracranial hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0002280,Enlarged cisterna magna,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0002625,Deep venous thrombosis,Very rare (<4-1%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0002828,Multiple joint contractures,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0002925,Elevated circulating thyroid-stimulating hormone concentration,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0003186,Inverted nipples,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0007552,Abnormal subcutaneous fat tissue distribution,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0009125,Lipodystrophy,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0010463,Aplasia of the ovary,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0011443,Abnormality of coordination,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0011842,Abnormal skeletal morphology,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0011858,Reduced factor IX activity,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0012050,Anasarca,Very rare (<4-1%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0012448,Delayed myelination,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0012509,Reduced thyroxin-binding globulin,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0012882,Hyperplastic labia majora,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0030146,Abnormal liver parenchyma morphology,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0030609,Photoreceptor layer loss on macular OCT,Occasional (29-5%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0031404,Impaired antigen-specific response,Very rare (<4-1%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0040238,Impaired neutrophil chemotaxis,Very rare (<4-1%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009826,Orphanet,79318,ORPHA:79318,86,HP:0100807,Long fingers,Frequent (79-30%),TAS,,,,"[PMID:20301289, PMID:28425223, PMID:29079546, PMID:29229467, PMID:30464053]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0000158,Macroglossia,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0000172,Abnormal uvula morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0000218,High palate,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0000366,Abnormality of the nose,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0000818,Abnormality of the endocrine system,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0001010,Hypopigmentation of the skin,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0001305,Dandy-Walker malformation,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0001410,Decreased liver function,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0001638,Cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0001871,Abnormality of blood and blood-forming tissues,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0002060,Abnormal cerebral morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0002079,Hypoplasia of the corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0002086,Abnormality of the respiratory system,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0002089,Pulmonary hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0002804,Arthrogryposis multiplex congenita,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0002813,Abnormality of limb bone morphology,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0005871,Metaphyseal chondrodysplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0009125,Lipodystrophy,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0011024,Abnormality of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0012110,Hypoplasia of the pons,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0012157,Subcortical cerebral atrophy,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0012305,Coarctation of the descending aortic arch,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0012379,Abnormal enzyme/coenzyme activity,Obligate (100%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0012762,Cerebral white matter atrophy,Very rare (<4-1%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0040064,Abnormality of limbs,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009827,Orphanet,79321,ORPHA:79321,45,HP:0045005,Neural tube defect,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:31067009, PMID:33583022]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000253,Progressive microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000363,Abnormal earlobe morphology,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000395,Prominent antihelix,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000444,Convex nasal ridge,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000818,Abnormality of the endocrine system,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001321,Cerebellar hypoplasia,Excluded (0%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001929,Reduced factor XI activity,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001965,Abnormal scalp morphology,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0002557,Hypoplastic nipples,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0003347,Impaired lymphocyte transformation with phytohemagglutinin,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0003540,Impaired platelet aggregation,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0003655,Reduced level of N-acetylglucosaminyltransferase II,Very frequent (99-80%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0004315,Decreased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0005387,Combined immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0009765,Low hanging columella,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0009830,Peripheral neuropathy,Excluded (0%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0010990,Abnormality of the common coagulation pathway,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0012171,Stereotypical hand wringing,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0031381,Decreased lymphocyte proliferation in response to mitogen,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0200117,Recurrent upper and lower respiratory tract infections,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0009828,Orphanet,79329,ORPHA:79329,57,HP:0500173,Reflex asystolic syncope,Occasional (29-5%),TAS,,,,"[PMID:20301507, PMID:28742265, PMID:33044030]",y,y +GARD:0000001,Orphanet,53693,ORPHA:53693,11,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000001,Orphanet,53693,ORPHA:53693,11,HP:0001394,Cirrhosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000001,Orphanet,53693,ORPHA:53693,11,HP:0001396,Cholestasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000001,Orphanet,53693,ORPHA:53693,11,HP:0001397,Hepatic steatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000001,Orphanet,53693,ORPHA:53693,11,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000001,Orphanet,53693,ORPHA:53693,11,HP:0001994,Renal Fanconi syndrome,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000001,Orphanet,53693,ORPHA:53693,11,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000001,Orphanet,53693,ORPHA:53693,11,HP:0003281,Increased circulating ferritin concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000001,Orphanet,53693,ORPHA:53693,11,HP:0012464,Decreased transferrin saturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000001,Orphanet,53693,ORPHA:53693,11,HP:0012465,Elevated hepatic iron concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000001,Orphanet,53693,ORPHA:53693,11,HP:0100613,Death in early adulthood,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000055,Abnormality of female external genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000413,Atresia of the external auditory canal,Occasional (29-5%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000561,Absent eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0001126,Cryptophthalmos,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0002223,Absent eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0003187,Breast hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0006709,Aplasia/Hypoplasia of the nipples,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0007392,Excessive wrinkled skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0010720,Abnormal hair pattern,Occasional (29-5%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0011224,Ablepharon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000003,Orphanet,920,ORPHA:920,39,HP:0200020,Corneal erosion,Occasional (29-5%),TAS,,,,,y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0000508,Ptosis,Very rare (<4-1%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0000551,Color vision defect,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0000575,Scotoma,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0000602,Ophthalmoplegia,Very rare (<4-1%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0000662,Nyctalopia,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0000821,Hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001097,Keratoconjunctivitis sicca,Very rare (<4-1%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001394,Cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001395,Hepatic fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001635,Congestive heart failure,Very rare (<4-1%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001640,Cardiomegaly,Very rare (<4-1%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001892,Abnormal bleeding,Very rare (<4-1%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001923,Reticulocytosis,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0001927,Acanthocytosis,Very frequent (99-80%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0002028,Chronic diarrhea,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0002403,Positive Romberg sign,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0002493,Upper motor neuron dysfunction,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0002495,Impaired vibratory sensation,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0002570,Steatorrhea,Very frequent (99-80%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0002630,Fat malabsorption,Very frequent (99-80%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0002878,Respiratory failure,Very rare (<4-1%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0002904,Hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0003146,Hypocholesterolemia,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0003233,Decreased HDL cholesterol concentration,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0003376,Steppage gait,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0003563,Decreased LDL cholesterol concentration,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0004905,Low levels of vitamin A,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0006858,Impaired distal proprioception,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0007894,Hypopigmentation of the fundus,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0008151,Prolonged prothrombin time,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0010831,Impaired proprioception,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0012153,Hypotriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0012804,Corneal ulceration,Very rare (<4-1%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0025022,Decreased erythrocyte sedimentation rate,Occasional (29-5%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0025201,Abnormal circulating apolipoprotein concentration,Very frequent (99-80%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0100512,Low levels of vitamin D,Frequent (79-30%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000005,Orphanet,14,ORPHA:14,63,HP:0100513,Low levels of vitamin E,Very frequent (99-80%),TAS,,,,"[PMID:21827896, PMID:24288038, PMID:30358967, PMID:30398540]",y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0000527,Long eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0000534,Abnormal eyebrow morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0002823,Abnormality of femur morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0003300,Ovoid vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0005900,Fifth metacarpal with ulnar notch,Occasional (29-5%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0010049,Short metacarpal,Occasional (29-5%),TAS,,,,,y,y +GARD:0000007,Orphanet,969,ORPHA:969,22,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0000297,Facial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0000577,Exotropia,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0000657,Oculomotor apraxia,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0001638,Cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002263,Exaggerated cupid's bow,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002273,Tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002344,Progressive neurologic deterioration,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002353,EEG abnormality,Excluded (0%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002483,Bulbar signs,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002579,Gastrointestinal dysmotility,Very frequent (99-80%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0002835,Aspiration,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0005135,Abnormal T-wave,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0007166,Paroxysmal dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0011024,Abnormality of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0011153,Focal motor seizure,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0011499,Mydriasis,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0012194,Episodic hemiplegia,Very frequent (99-80%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0012547,Abnormal involuntary eye movements,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0031284,Flushing,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0031546,Cardiac conduction abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0031931,Ocular flutter,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0032649,Skewfoot,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0045074,Thin eyebrow,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0200136,Oral-pharyngeal dysphagia,Frequent (79-30%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000011,Orphanet,2131,ORPHA:2131,65,HP:0410263,Brain imaging abnormality,Excluded (0%),TAS,,,,"[PMID:20301294, PMID:32280259, PMID:32883312]",y,y +GARD:0000013,Orphanet,1065,ORPHA:1065,11,HP:0000298,Mask-like facies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000013,Orphanet,1065,ORPHA:1065,11,HP:0000364,Hearing abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0000013,Orphanet,1065,ORPHA:1065,11,HP:0000526,Aniridia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000013,Orphanet,1065,ORPHA:1065,11,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000013,Orphanet,1065,ORPHA:1065,11,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000013,Orphanet,1065,ORPHA:1065,11,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000013,Orphanet,1065,ORPHA:1065,11,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000013,Orphanet,1065,ORPHA:1065,11,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000013,Orphanet,1065,ORPHA:1065,11,HP:0002168,Scanning speech,Frequent (79-30%),TAS,,,,,y,y +GARD:0000013,Orphanet,1065,ORPHA:1065,11,HP:0004414,Abnormality of the pulmonary artery,Occasional (29-5%),TAS,,,,,y,y +GARD:0000013,Orphanet,1065,ORPHA:1065,11,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0000734,Disinhibition,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0000745,Diminished motivation,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0000818,Abnormality of the endocrine system,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0000933,Posterior fossa cyst at the fourth ventricle,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0001293,Cranial nerve compression,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0001360,Holoprosencephaly,Very rare (<4-1%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002084,Encephalocele,Very rare (<4-1%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002138,Subarachnoid hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002176,Spinal cord compression,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002273,Tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002385,Paraparesis,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002664,Neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002839,Urinary bladder sphincter dysfunction,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0002936,Distal sensory impairment,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0003698,Difficulty standing,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0005324,Disturbance of facial expression,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0007086,Social and occupational deterioration,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0007291,Posterior fossa cyst,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0007340,Lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0009745,Spinal arachnoid cyst,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0010303,Abnormal spinal meningeal morphology,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0010576,Intracranial cystic lesion,Frequent (79-30%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0011499,Mydriasis,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0011868,Sciatica,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0012246,Oculomotor nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0012294,Abnormal occipital bone morphology,Very rare (<4-1%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0012514,Lower limb pain,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0012700,Abnormal large intestine physiology,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0012758,Neurodevelopmental delay,Very rare (<4-1%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0025331,Upgaze palsy,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0025479,Self-neglect,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0030215,Inappropriate crying,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0032059,Mild malformation of cortical development,Very rare (<4-1%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0032070,Leptomeningeal enhancement,Frequent (79-30%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0032169,Severe infection,Very rare (<4-1%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0032327,Interhemispheric cyst,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0100754,Mania,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0100785,Insomnia,Occasional (29-5%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000017,Orphanet,2356,ORPHA:2356,67,HP:0100951,Enlarged fossa interpeduncularis,Very rare (<4-1%),TAS,,,,"[PMID:25365662, PMID:27923759, PMID:29921743, PMID:32142944, PMID:32328704]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0001104,Macular hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0001799,Short nail,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0002002,Deep philtrum,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0002187,"Intellectual disability, profound",Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0002656,Epiphyseal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0002983,Micromelia,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0003654,Reduced dihydropyrimidine dehydrogenase level,Very frequent (99-80%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0005274,Prominent nasal tip,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0006191,Deep palmar crease,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0006863,Severe expressive language delay,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0006919,"Abnormal aggressive, impulsive or violent behavior",Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0009748,Large earlobe,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0010841,Multifocal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0011153,Focal motor seizure,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0012127,Uraciluria,Very frequent (99-80%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0012433,Abnormal social behavior,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0030890,Hyperintensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000019,Orphanet,1675,ORPHA:1675,55,HP:0030939,Palpebral thickening,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:19296131, PMID:28275972]",y,y +GARD:0000022,Orphanet,123,ORPHA:123,5,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,[PMID:10694305],y,y +GARD:0000022,Orphanet,123,ORPHA:123,5,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:10694305],y,y +GARD:0000022,Orphanet,123,ORPHA:123,5,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:10694305],y,y +GARD:0000022,Orphanet,123,ORPHA:123,5,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,[PMID:10694305],y,y +GARD:0000022,Orphanet,123,ORPHA:123,5,HP:0002299,Brittle hair,Very frequent (99-80%),TAS,,,,[PMID:10694305],y,y +GARD:0000023,Orphanet,126,ORPHA:126,10,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000023,Orphanet,126,ORPHA:126,10,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000023,Orphanet,126,ORPHA:126,10,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000023,Orphanet,126,ORPHA:126,10,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000023,Orphanet,126,ORPHA:126,10,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000023,Orphanet,126,ORPHA:126,10,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000023,Orphanet,126,ORPHA:126,10,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,,y,y +GARD:0000023,Orphanet,126,ORPHA:126,10,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000023,Orphanet,126,ORPHA:126,10,HP:0008209,Premature ovarian insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0000023,Orphanet,126,ORPHA:126,10,HP:0011481,Abnormal lacrimal duct morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0000078,Abnormality of the genital system,Occasional (29-5%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0000384,Preauricular skin tag,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0002023,Anal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0004467,Preauricular pit,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000026,Orphanet,195,ORPHA:195,20,HP:0100542,Abnormal localization of kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0000162,Glossoptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0009467,Radial deviation of the 2nd finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0010285,Oral synechia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0010508,Metatarsus valgus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000028,Orphanet,1388,ORPHA:1388,25,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000008,Abnormal morphology of female internal genitalia,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000048,Bifid scrotum,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000066,Labial hypoplasia,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000204,Cleft upper lip,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000359,Abnormality of the inner ear,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000396,Overfolded helix,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000453,Choanal atresia,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000458,Anosmia,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000528,Anophthalmia,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000612,Iris coloboma,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000625,Eyelid coloboma,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000632,Lacrimation abnormality,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000717,Autism,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000830,Anterior hypopituitarism,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0000834,Abnormality of the adrenal glands,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001291,Abnormal cranial nerve morphology,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001636,Tetralogy of Fallot,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001646,Abnormal aortic valve morphology,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0002410,Aqueductal stenosis,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0002937,Hemivertebrae,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0002992,Abnormality of tibia morphology,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0004348,Abnormality of bone mineral density,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0005113,Aortic arch aneurysm,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0008572,External ear malformation,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0009906,Aplasia/Hypoplasia of the earlobes,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0010443,Bifid femur,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0010669,Hypoplasia of the zygomatic bone,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0010751,Dimple chin,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0010978,Abnormality of immune system physiology,Occasional (29-5%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0011382,Hypoplasia of the semicircular canal,Very frequent (99-80%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0011611,Interrupted aortic arch,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000029,Orphanet,138,ORPHA:138,88,HP:0100736,Abnormal soft palate morphology,Frequent (79-30%),TAS,,,,[PMID:21378379],y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0002269,Abnormality of neuronal migration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0002571,Achalasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000035,Orphanet,3307,ORPHA:3307,18,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000054,Micropenis,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000085,Horseshoe kidney,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000239,Large fontanelles,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000256,Macrocephaly,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000322,Short philtrum,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000363,Abnormal earlobe morphology,Frequent (79-30%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000532,Abnormal chorioretinal morphology,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000646,Amblyopia,Frequent (79-30%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000705,Amelogenesis imperfecta,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000719,Inappropriate behavior,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000729,Autistic behavior,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000752,Hyperactivity,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000789,Infertility,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000798,Oligospermia,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000882,Hypoplastic scapulae,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000921,Missing ribs,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001339,Lissencephaly,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001528,Hemihypertrophy,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001537,Umbilical hernia,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001651,Dextrocardia,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001655,Patent foramen ovale,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0002089,Pulmonary hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0002092,Pulmonary arterial hypertension,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0002143,Abnormality of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0002725,Systemic lupus erythematosus,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0003683,Large beaked nose,Frequent (79-30%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0005912,Biliary atresia,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0006710,Aplasia/Hypoplasia of the clavicles,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0008501,Median cleft lip and palate,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0011044,Abnormal number of permanent teeth,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0011467,Absent gallbladder,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0011646,Juxtaductal coarctation of the aorta,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0011968,Feeding difficulties,Very rare (<4-1%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0030031,Small toe,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0030434,Pilomatrixoma,Frequent (79-30%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0030880,Raynaud phenomenon,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0040262,Glue ear,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0100614,Myositis,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000042,Orphanet,3310,ORPHA:3310,82,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,"[PMID:14735590, PMID:16226972, PMID:22487875, PMID:25847481, PMID:26216333, PMID:4772080, PMID:9781058]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000130,Abnormality of the uterus,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000239,Large fontanelles,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000269,Prominent occiput,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000476,Cystic hygroma,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001195,Single umbilical artery,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001651,Dextrocardia,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001706,Endocardial fibroelastosis,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001746,Asplenia,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001792,Small nail,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001838,Rocker bottom foot,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0001869,Deep plantar creases,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0002006,Facial cleft,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0002937,Hemivertebrae,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0002983,Micromelia,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0003042,Elbow dislocation,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0004422,Biparietal narrowing,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0005815,Supernumerary ribs,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0006191,Deep palmar crease,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0011027,Abnormal fallopian tube morphology,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0012815,Hypoplastic female external genitalia,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0040019,Finger clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000043,Orphanet,99776,ORPHA:99776,62,HP:0100752,Abnormal liver lobulation,Occasional (29-5%),TAS,,,,"[PMID:21975655, PMID:22249800]",y,y +GARD:0000045,Orphanet,291,ORPHA:291,9,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000045,Orphanet,291,ORPHA:291,9,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0000045,Orphanet,291,ORPHA:291,9,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000045,Orphanet,291,ORPHA:291,9,HP:0000987,Atypical scarring of skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000045,Orphanet,291,ORPHA:291,9,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0000045,Orphanet,291,ORPHA:291,9,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0000045,Orphanet,291,ORPHA:291,9,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000045,Orphanet,291,ORPHA:291,9,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000045,Orphanet,291,ORPHA:291,9,HP:0002983,Micromelia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000047,Orphanet,79234,ORPHA:79234,14,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:12983120, PMID:9347003]",y,y +GARD:0000047,Orphanet,79234,ORPHA:79234,14,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:12983120, PMID:9347003]",y,y +GARD:0000047,Orphanet,79234,ORPHA:79234,14,HP:0001080,Biliary tract abnormality,Very frequent (99-80%),TAS,,,,"[PMID:12983120, PMID:9347003]",y,y +GARD:0000047,Orphanet,79234,ORPHA:79234,14,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:12983120, PMID:9347003]",y,y +GARD:0000047,Orphanet,79234,ORPHA:79234,14,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:12983120, PMID:9347003]",y,y +GARD:0000047,Orphanet,79234,ORPHA:79234,14,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:12983120, PMID:9347003]",y,y +GARD:0000047,Orphanet,79234,ORPHA:79234,14,HP:0001343,Kernicterus,Very frequent (99-80%),TAS,,,,"[PMID:12983120, PMID:9347003]",y,y +GARD:0000047,Orphanet,79234,ORPHA:79234,14,HP:0001392,Abnormality of the liver,Very frequent (99-80%),TAS,,,,"[PMID:12983120, PMID:9347003]",y,y +GARD:0000047,Orphanet,79234,ORPHA:79234,14,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:12983120, PMID:9347003]",y,y +GARD:0000047,Orphanet,79234,ORPHA:79234,14,HP:0003265,Neonatal hyperbilirubinemia,Very frequent (99-80%),TAS,,,,"[PMID:12983120, PMID:9347003]",y,y +GARD:0000047,Orphanet,79234,ORPHA:79234,14,HP:0006579,Prolonged neonatal jaundice,Very frequent (99-80%),TAS,,,,"[PMID:12983120, PMID:9347003]",y,y +GARD:0000047,Orphanet,79234,ORPHA:79234,14,HP:0008282,Unconjugated hyperbilirubinemia,Very frequent (99-80%),TAS,,,,"[PMID:12983120, PMID:9347003]",y,y +GARD:0000047,Orphanet,79234,ORPHA:79234,14,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:12983120, PMID:9347003]",y,y +GARD:0000047,Orphanet,79234,ORPHA:79234,14,HP:0012246,Oculomotor nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:12983120, PMID:9347003]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000023,Inguinal hernia,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000253,Progressive microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0000973,Cutis laxa,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001181,Adducted thumb,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001374,Congenital hip dislocation,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001476,Delayed closure of the anterior fontanelle,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001558,Decreased fetal movement,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001611,Nasal speech,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001762,Talipes equinovarus,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001788,Premature rupture of membranes,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0001884,Talipes calcaneovalgus,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0002097,Emphysema,Excluded (0%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0002305,Athetosis,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0002645,Wormian bones,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0002761,Generalized joint laxity,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0002812,Coxa vara,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0003199,Decreased muscle mass,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0005272,Prominent nasolabial fold,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0005301,Persistent left superior vena cava,Occasional (29-5%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0005328,Progeroid facial appearance,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0005425,Recurrent sinopulmonary infections,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0007392,Excessive wrinkled skin,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0007457,Prominent veins on trunk,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0008619,Bilateral sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0009125,Lipodystrophy,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0009748,Large earlobe,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0010648,Dermal translucency,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0011003,High myopia,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0012304,Hypoplastic aortic arch,Occasional (29-5%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0025167,Fragmented elastic fibers in the dermis,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0030604,Abnormal fundus fluorescein angiography,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000049,Orphanet,2962,ORPHA:2962,66,HP:0200141,"Small, conical teeth",Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:18388779, PMID:19401719, PMID:21739576, PMID:24913064, PMID:3321993, PMID:4302249, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000054,Orphanet,1203,ORPHA:1203,5,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000054,Orphanet,1203,ORPHA:1203,5,HP:0001732,Abnormality of the pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0000054,Orphanet,1203,ORPHA:1203,5,HP:0001734,Annular pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0000054,Orphanet,1203,ORPHA:1203,5,HP:0002247,Duodenal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000054,Orphanet,1203,ORPHA:1203,5,HP:0004414,Abnormality of the pulmonary artery,Occasional (29-5%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0002075,Dysdiadochokinesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0003011,Abnormality of the musculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0000059,Orphanet,1955,ORPHA:1955,16,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0001089,Iris atrophy,Frequent (79-30%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0001100,Heterochromia iridis,Very rare (<4-1%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0007818,Central heterochromia,Occasional (29-5%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0007990,Hypoplastic iris stroma,Occasional (29-5%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0009918,Ectopia pupillae,Frequent (79-30%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0011483,Anterior synechiae of the anterior chamber,Frequent (79-30%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0011484,Posterior synechiae of the anterior chamber,Occasional (29-5%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0011489,Abnormal migration of corneal endothelium,Frequent (79-30%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0011500,Polycoria,Occasional (29-5%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0011525,Iris nevus,Occasional (29-5%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0012040,Corneal stromal edema,Frequent (79-30%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0025309,Abnormal pupil shape,Occasional (29-5%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000060,Orphanet,64734,ORPHA:64734,16,HP:0025358,Uveal ectropion,Occasional (29-5%),TAS,,,,"[PMID:29331589, PMID:29670326]",y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000040,Long penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000113,Polycystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000902,Rib fusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0000912,Sprengel anomaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0001841,Preaxial foot polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0002644,Abnormality of pelvic girdle bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0002812,Coxa vara,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0002974,Radioulnar synostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0002991,Abnormality of fibula morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0003097,Short femur,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0005107,Abnormal sacrum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0005772,Aplasia/Hypoplasia of the tibia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0009800,Maternal diabetes,Frequent (79-30%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000061,Orphanet,1988,ORPHA:1988,36,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0001792,Small nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0001864,Clinodactyly of the 5th toe,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0002300,Mutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0002381,Aphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0010529,Echolalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0010550,Paraplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0010580,Enlarged epiphyses,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0010624,Aplastic/hypoplastic toenail,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0010761,Broad columella,Frequent (79-30%),TAS,,,,,y,y +GARD:0000062,Orphanet,3255,ORPHA:3255,41,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000276,Long face,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000282,Facial edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0000974,Hyperextensible skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0001176,Large hands,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0004493,Craniofacial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0005916,Abnormal metacarpal morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0100255,Metaphyseal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0100670,Coarse metaphyseal trabecularization,Occasional (29-5%),TAS,,,,,y,y +GARD:0000064,Orphanet,3219,ORPHA:3219,44,HP:0200034,Papule,Occasional (29-5%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0000100,Nephrotic syndrome,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0001302,Pachygyria,Frequent (79-30%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0002036,Hiatus hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0002269,Abnormality of neuronal migration,Frequent (79-30%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0002410,Aqueductal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0005108,Abnormal intervertebral disk morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0010978,Abnormality of immune system physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000065,Orphanet,2065,ORPHA:2065,28,HP:0100720,Hypoplasia of the ear cartilage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000294,Low anterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000483,Astigmatism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000492,Abnormal eyelid morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000636,Upper eyelid coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000647,Sclerocornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000677,Oligodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0000929,Abnormal skull morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0002208,Coarse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0004440,Coronal craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0008497,Congenital craniofacial dysostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0009891,Underdeveloped supraorbital ridges,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000066,Orphanet,2095,ORPHA:2095,28,HP:0010940,Aplasia/Hypoplasia of the nasal bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0001171,Split hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0001291,Abnormal cranial nerve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0001543,Gastroschisis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0005235,Jejunal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0006265,Aplasia/Hypoplasia of fingers,Frequent (79-30%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0009776,Adactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0009813,Upper limb phocomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0010295,Aplasia/Hypoplasia of the tongue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000068,Orphanet,989,ORPHA:989,26,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0000967,Petechiae,Frequent (79-30%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0000979,Purpura,Frequent (79-30%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0000998,Hypertrichosis,Very rare (<4-1%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0001028,Hemangioma,Very frequent (99-80%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0001923,Reticulocytosis,Very rare (<4-1%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0001937,Microangiopathic hemolytic anemia,Occasional (29-5%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0002027,Abdominal pain,Very rare (<4-1%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0002098,Respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0003270,Abdominal distention,Very rare (<4-1%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0005306,Capillary hemangioma,Frequent (79-30%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0005520,Chronic disseminated intravascular coagulation,Occasional (29-5%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0008069,Neoplasm of the skin,Very rare (<4-1%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0008151,Prolonged prothrombin time,Occasional (29-5%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0011900,Hypofibrinogenemia,Very frequent (99-80%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0012329,Tufted angioma,Frequent (79-30%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0031207,Hepatic hemangioma,Occasional (29-5%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0040213,Hypopnea,Very rare (<4-1%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000070,Orphanet,2330,ORPHA:2330,23,HP:0100766,Abnormal lymphatic vessel morphology,Occasional (29-5%),TAS,,,,"[PMID:28767598, PMID:30085595, PMID:30096317, PMID:3108848, PMID:3588149, PMID:5950934, PMID:6660888, PMID:9108863]",y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0000100,Nephrotic syndrome,Frequent (79-30%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0000217,Xerostomia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0000246,Sinusitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0001097,Keratoconjunctivitis sicca,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0002217,Slow-growing hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0004298,Abnormality of the abdominal wall,Frequent (79-30%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0009886,Trichorrhexis nodosa,Frequent (79-30%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0011358,Generalized hypopigmentation of hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0011362,Abnormal hair quantity,Occasional (29-5%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0012471,Thick vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0100533,Inflammatory abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0100783,Breast aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000076,Orphanet,238468,ORPHA:238468,31,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0000142,Abnormal vagina morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0000632,Lacrimation abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0000677,Oligodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0000969,Edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0001092,Absent lacrimal punctum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0001545,Anteriorly placed anus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0001651,Dextrocardia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0001732,Abnormality of the pancreas,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0001738,Exocrine pancreatic insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0003075,Hypoproteinemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0005288,Abnormality of the nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0010460,Abnormality of the female genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0010720,Abnormal hair pattern,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000080,Orphanet,2315,ORPHA:2315,37,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000311,Round face,Occasional (29-5%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000637,Long palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000677,Oligodontia,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000891,Cervical ribs,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0000954,Single transverse palmar crease,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0001566,Widely-spaced maxillary central incisors,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0001572,Macrodontia,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0002942,Thoracic kyphosis,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0002948,Vertebral fusion,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0004474,Persistent open anterior fontanelle,Occasional (29-5%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0008513,Bilateral conductive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0010720,Abnormal hair pattern,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0011842,Abnormal skeletal morphology,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0012725,Cutaneous syndactyly,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0040019,Finger clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000082,Orphanet,2332,ORPHA:2332,40,HP:0045017,Congenital malformation of the left heart,Occasional (29-5%),TAS,,,,"[PMID:17230487, PMID:29258554, PMID:6467660]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0000270,Delayed cranial suture closure,Very frequent (99-80%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0001085,Papilledema,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0001620,High pitched voice,Occasional (29-5%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0002135,Basal ganglia calcification,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0002199,Hypocalcemic seizures,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0002905,Hyperphosphatemia,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0003472,Hypocalcemic tetany,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0004331,Decreased skull ossification,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0005450,Calvarial osteosclerosis,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0005490,Postnatal macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0005791,Cortical thickening of long bone diaphyses,Very frequent (99-80%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0006335,Persistence of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0006470,Thin long bone diaphyses,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0007633,Bilateral microphthalmos,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0007862,Retinal calcification,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0008198,Congenital hypoparathyroidism,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0030346,Abnormal circulating follicle-stimulating hormone concentration,Frequent (79-30%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000083,Orphanet,93325,ORPHA:93325,30,HP:0100254,Stenosis of the medullary cavity of the long bones,Very frequent (99-80%),TAS,,,,"[PMID:1308349, PMID:3381667, PMID:3746537, PMID:444124, PMID:5322798, PMID:6023894, PMID:6342392]",y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0002089,Pulmonary hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0002187,"Intellectual disability, profound",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0002282,Gray matter heterotopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0002676,Cloverleaf skull,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0002867,Abnormal ilium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0010880,Increased nuchal translucency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000085,Orphanet,2655,ORPHA:2655,41,HP:0100781,Abnormal sacroiliac joint morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000072,Hydroureter,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000588,Optic disc coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0000889,Abnormal clavicle morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0003043,Abnormal shoulder morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0008572,External ear malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0009755,Ankyloblepharon,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0009943,Complete duplication of thumb phalanx,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0000087,Orphanet,568,ORPHA:568,42,HP:0100818,Long thorax,Occasional (29-5%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0001167,Abnormality of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0002816,Genu recurvatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0002967,Cubitus valgus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0003042,Elbow dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0100679,Lack of skin elasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000088,Orphanet,2900,ORPHA:2900,23,HP:0100795,Abnormally straight spine,Frequent (79-30%),TAS,,,,,y,y +GARD:0000092,Orphanet,87503,ORPHA:87503,13,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:25557416, PMID:26445964, PMID:26945534]",y,y +GARD:0000092,Orphanet,87503,ORPHA:87503,13,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,"[PMID:25557416, PMID:26445964, PMID:26945534]",y,y +GARD:0000092,Orphanet,87503,ORPHA:87503,13,HP:0001155,Abnormality of the hand,Very frequent (99-80%),TAS,,,,"[PMID:25557416, PMID:26445964, PMID:26945534]",y,y +GARD:0000092,Orphanet,87503,ORPHA:87503,13,HP:0001218,Autoamputation,Frequent (79-30%),TAS,,,,"[PMID:25557416, PMID:26445964, PMID:26945534]",y,y +GARD:0000092,Orphanet,87503,ORPHA:87503,13,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:25557416, PMID:26445964, PMID:26945534]",y,y +GARD:0000092,Orphanet,87503,ORPHA:87503,13,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,"[PMID:25557416, PMID:26445964, PMID:26945534]",y,y +GARD:0000092,Orphanet,87503,ORPHA:87503,13,HP:0007404,Nonepidermolytic palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:25557416, PMID:26445964, PMID:26945534]",y,y +GARD:0000092,Orphanet,87503,ORPHA:87503,13,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:25557416, PMID:26445964, PMID:26945534]",y,y +GARD:0000092,Orphanet,87503,ORPHA:87503,13,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:25557416, PMID:26445964, PMID:26945534]",y,y +GARD:0000092,Orphanet,87503,ORPHA:87503,13,HP:0011123,Inflammatory abnormality of the skin,Very frequent (99-80%),TAS,,,,"[PMID:25557416, PMID:26445964, PMID:26945534]",y,y +GARD:0000092,Orphanet,87503,ORPHA:87503,13,HP:0025092,Epidermal acanthosis,Frequent (79-30%),TAS,,,,"[PMID:25557416, PMID:26445964, PMID:26945534]",y,y +GARD:0000092,Orphanet,87503,ORPHA:87503,13,HP:0031190,Superficial dermal perivascular inflammatory infiltrate,Very frequent (99-80%),TAS,,,,"[PMID:25557416, PMID:26445964, PMID:26945534]",y,y +GARD:0000092,Orphanet,87503,ORPHA:87503,13,HP:0031452,Lichenoid skin lesion,Occasional (29-5%),TAS,,,,"[PMID:25557416, PMID:26445964, PMID:26945534]",y,y +GARD:0000093,Orphanet,573,ORPHA:573,14,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0000093,Orphanet,573,ORPHA:573,14,HP:0000499,Abnormal eyelash morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000093,Orphanet,573,ORPHA:573,14,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0000093,Orphanet,573,ORPHA:573,14,HP:0000534,Abnormal eyebrow morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000093,Orphanet,573,ORPHA:573,14,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0000093,Orphanet,573,ORPHA:573,14,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000093,Orphanet,573,ORPHA:573,14,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000093,Orphanet,573,ORPHA:573,14,HP:0002217,Slow-growing hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000093,Orphanet,573,ORPHA:573,14,HP:0002232,Patchy alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000093,Orphanet,573,ORPHA:573,14,HP:0002299,Brittle hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000093,Orphanet,573,ORPHA:573,14,HP:0007502,Follicular hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000093,Orphanet,573,ORPHA:573,14,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000093,Orphanet,573,ORPHA:573,14,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000093,Orphanet,573,ORPHA:573,14,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0000488,Retinopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0000512,Abnormal electroretinogram,Occasional (29-5%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0000982,Palmoplantar keratoderma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0002816,Genu recurvatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0004345,Ganglioside accumulation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0004422,Biparietal narrowing,Occasional (29-5%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0005105,Abnormal nasal morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0007281,Developmental stagnation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000094,Orphanet,578,ORPHA:578,27,HP:0011020,Abnormality of mucopolysaccharide metabolism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000095,Orphanet,2576,ORPHA:2576,9,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000095,Orphanet,2576,ORPHA:2576,9,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000095,Orphanet,2576,ORPHA:2576,9,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000095,Orphanet,2576,ORPHA:2576,9,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000095,Orphanet,2576,ORPHA:2576,9,HP:0001620,High pitched voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000095,Orphanet,2576,ORPHA:2576,9,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000095,Orphanet,2576,ORPHA:2576,9,HP:0002680,J-shaped sella turcica,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000095,Orphanet,2576,ORPHA:2576,9,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000095,Orphanet,2576,ORPHA:2576,9,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000153,Abnormality of the mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000176,Submucous cleft hard palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000211,Trismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000269,Prominent occiput,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000288,Abnormality of the philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000492,Abnormal eyelid morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000499,Abnormal eyelash morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000614,Abnormal nasolacrimal system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0000951,Abnormality of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0001059,Pterygium,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0001176,Large hands,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0001302,Pachygyria,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0001305,Dandy-Walker malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0001331,Absent septum pellucidum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0001339,Lissencephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0001460,Aplasia/Hypoplasia involving the skeletal musculature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0001595,Abnormal hair morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0001769,Broad foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0002126,Polymicrogyria,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0002179,Opisthotonus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0002269,Abnormality of neuronal migration,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0002334,Abnormal cerebellar vermis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0002536,Abnormal cortical gyration,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0002748,Rickets,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0002749,Osteomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0002983,Micromelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0003241,External genital hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0003560,Muscular dystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0007227,Macrogyria,Frequent (79-30%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0012471,Thick vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0012639,Abnormal nervous system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000102,Orphanet,2671,ORPHA:2671,63,HP:0100679,Lack of skin elasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000104,Orphanet,2704,ORPHA:2704,11,HP:0000010,Recurrent urinary tract infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000104,Orphanet,2704,ORPHA:2704,11,HP:0000020,Urinary incontinence,Frequent (79-30%),TAS,,,,,y,y +GARD:0000104,Orphanet,2704,ORPHA:2704,11,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000104,Orphanet,2704,ORPHA:2704,11,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0000104,Orphanet,2704,ORPHA:2704,11,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0000104,Orphanet,2704,ORPHA:2704,11,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000104,Orphanet,2704,ORPHA:2704,11,HP:0000796,Urethral obstruction,Frequent (79-30%),TAS,,,,,y,y +GARD:0000104,Orphanet,2704,ORPHA:2704,11,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0000104,Orphanet,2704,ORPHA:2704,11,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000104,Orphanet,2704,ORPHA:2704,11,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000104,Orphanet,2704,ORPHA:2704,11,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000071,Ureteral stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000656,Ectropion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0001107,Ocular albinism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0001139,Choroideremia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0001172,Abnormal thumb morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0002305,Athetosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0002510,Spastic tetraplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0005561,Abnormality of bone marrow cell morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0005599,Hypopigmentation of hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0007730,Iris hypopigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0008056,Aplasia/Hypoplasia affecting the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0000105,Orphanet,2719,ORPHA:2719,45,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0000384,Preauricular skin tag,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0000625,Eyelid coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0000921,Missing ribs,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0001053,Hypopigmented skin patches,Frequent (79-30%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0001362,Calvarial skull defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0002006,Facial cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0002126,Polymicrogyria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0002334,Abnormal cerebellar vermis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0008572,External ear malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0010185,Aplasia/Hypoplasia of the distal phalanges of the toes,Occasional (29-5%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0010609,Skin tags,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000106,Orphanet,1647,ORPHA:1647,40,HP:0100777,Exostoses,Occasional (29-5%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0000011,Neurogenic bladder,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0000020,Urinary incontinence,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0001269,Hemiparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0002839,Urinary bladder sphincter dysfunction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0003457,EMG abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000108,Orphanet,206583,ORPHA:206583,18,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0000109,Orphanet,2762,ORPHA:2762,12,HP:0000828,Abnormality of the parathyroid gland,Occasional (29-5%),TAS,,,,,y,y +GARD:0000109,Orphanet,2762,ORPHA:2762,12,HP:0001034,Hypermelanotic macule,Occasional (29-5%),TAS,,,,,y,y +GARD:0000109,Orphanet,2762,ORPHA:2762,12,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000109,Orphanet,2762,ORPHA:2762,12,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000109,Orphanet,2762,ORPHA:2762,12,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000109,Orphanet,2762,ORPHA:2762,12,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000109,Orphanet,2762,ORPHA:2762,12,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000109,Orphanet,2762,ORPHA:2762,12,HP:0010766,Ectopic calcification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000109,Orphanet,2762,ORPHA:2762,12,HP:0011987,Ectopic ossification in muscle tissue,Frequent (79-30%),TAS,,,,,y,y +GARD:0000109,Orphanet,2762,ORPHA:2762,12,HP:0012733,Macule,Occasional (29-5%),TAS,,,,,y,y +GARD:0000109,Orphanet,2762,ORPHA:2762,12,HP:0100242,Sarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000109,Orphanet,2762,ORPHA:2762,12,HP:0200034,Papule,Occasional (29-5%),TAS,,,,,y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0001279,Syncope,Very rare (<4-1%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0001609,Hoarse voice,Very frequent (99-80%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0001618,Dysphonia,Frequent (79-30%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0001945,Fever,Very rare (<4-1%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0002088,Abnormal lung morphology,Very rare (<4-1%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0002778,Abnormal tracheal morphology,Frequent (79-30%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0002779,Tracheomalacia,Very rare (<4-1%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0002781,Upper airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0002788,Recurrent upper respiratory tract infections,Occasional (29-5%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0002860,Squamous cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0010307,Stridor,Occasional (29-5%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0030828,Wheezing,Occasional (29-5%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0030842,Choking episodes,Very rare (<4-1%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0031246,Nonproductive cough,Occasional (29-5%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000111,Orphanet,60032,ORPHA:60032,23,HP:0100750,Atelectasis,Very rare (<4-1%),TAS,,,,"[PMID:25999724, PMID:28427542, PMID:29605367, PMID:29800325, PMID:30406011]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0001662,Bradycardia,Occasional (29-5%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0001695,Cardiac arrest,Occasional (29-5%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0011947,Respiratory tract infection,Occasional (29-5%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0012418,Hypoxemia,Very frequent (99-80%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0030863,Nasal flaring,Frequent (79-30%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0100598,Pulmonary edema,Frequent (79-30%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0100750,Atelectasis,Frequent (79-30%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000112,Orphanet,70587,ORPHA:70587,16,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:10762543, PMID:28589372, PMID:30379667]",y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0000763,Sensory neuropathy,Very frequent (99-80%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0001761,Pes cavus,Very frequent (99-80%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0002385,Paraparesis,Occasional (29-5%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0003712,Skeletal muscle hypertrophy,Very frequent (99-80%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,[PMID:20301731],y,y +GARD:0000114,Orphanet,99014,ORPHA:99014,19,HP:0040129,Abnormal nerve conduction velocity,Very frequent (99-80%),TAS,,,,[PMID:20301731],y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0000717,Autism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0000763,Sensory neuropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0001009,Telangiectasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0002363,Abnormal brainstem morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0003700,Generalized amyotrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000116,Orphanet,79279,ORPHA:79279,30,HP:0100704,Cerebral visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000023,Inguinal hernia,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000047,Hypospadias,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000054,Micropenis,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000069,Abnormality of the ureter,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000078,Abnormality of the genital system,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000107,Renal cyst,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000168,Abnormality of the gingiva,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000187,Broad alveolar ridges,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000260,Wide anterior fontanel,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000280,Coarse facial features,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000322,Short philtrum,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000329,Facial hemangioma,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000341,Narrow forehead,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000356,Abnormality of the outer ear,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000375,Abnormal cochlea morphology,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000452,Choanal stenosis,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000522,Alacrima,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000586,Shallow orbits,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000765,Abnormal thorax morphology,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000787,Nephrolithiasis,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000885,Broad ribs,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0000889,Abnormal clavicle morphology,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0001257,Spasticity,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0001276,Hypertonia,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0001545,Anteriorly placed anus,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0001601,Laryngomalacia,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0001605,Vocal cord paralysis,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0001734,Annular pancreas,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002190,Choroid plexus cyst,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002521,Hypsarrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002645,Wormian bones,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002667,Nephroblastoma,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002694,Sclerosis of skull base,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002884,Hepatoblastoma,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002888,Ependymoma,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002974,Radioulnar synostosis,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0002982,Tibial bowing,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0003173,Hypoplastic pubic bone,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0004554,Generalized hypertrichosis,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0005349,Hypoplasia of the epiglottis,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0006532,Recurrent pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0007099,Chiari type I malformation,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0008610,Infantile sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0008628,Abnormality of the stapes,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0009748,Large earlobe,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0009792,Teratoma,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0010034,Short 1st metacarpal,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0010464,Streak ovary,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0010557,Overlapping fingers,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0011039,Abnormal helix morphology,Frequent (79-30%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0011097,Epileptic spasm,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0011471,Gastrostomy tube feeding in infancy,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0011787,Central hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0012324,Myeloid leukemia,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0012385,Camptodactyly,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0012736,Profound global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0025259,Stiff elbow,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0030736,Sacrococcygeal teratoma,Very rare (<4-1%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000117,Orphanet,798,ORPHA:798,92,HP:0045005,Neural tube defect,Occasional (29-5%),TAS,,,,"[PMID:18398855, PMID:21371013, PMID:25028416, PMID:25663181, PMID:28346496]",y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0000089,Renal hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0000130,Abnormality of the uterus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0000144,Decreased fertility,Frequent (79-30%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0000889,Abnormal clavicle morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0000912,Sprengel anomaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0001162,Postaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0001167,Abnormality of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0002221,Absent axillary hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0002557,Hypoplastic nipples,Frequent (79-30%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0002818,Abnormality of the radius,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0003019,Abnormality of the wrist,Frequent (79-30%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0003063,Abnormality of the humerus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0004050,Absent hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0004299,Hernia of the abdominal wall,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0004370,Abnormality of temperature regulation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0005916,Abnormal metacarpal morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0006495,Aplasia/Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0009751,Aplasia of the pectoralis major muscle,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000118,Orphanet,3138,ORPHA:3138,36,HP:0100783,Breast aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0000632,Lacrimation abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0005338,Sparse lateral eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0007565,Multiple cafe-au-lait spots,Occasional (29-5%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0007776,Sparse lower eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0009743,Distichiasis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0010720,Abnormal hair pattern,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0010751,Dimple chin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0010935,Abnormality of the upper urinary tract,Frequent (79-30%),TAS,,,,,y,y +GARD:0000121,Orphanet,1807,ORPHA:1807,23,HP:0100781,Abnormal sacroiliac joint morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000125,Orphanet,38,ORPHA:38,12,HP:0000972,Palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:29080320, PMID:29634304]",y,y +GARD:0000125,Orphanet,38,ORPHA:38,12,HP:0002814,Abnormality of the lower limb,Very rare (<4-1%),TAS,,,,"[PMID:29080320, PMID:29634304]",y,y +GARD:0000125,Orphanet,38,ORPHA:38,12,HP:0002955,Granulomatosis,Frequent (79-30%),TAS,,,,"[PMID:29080320, PMID:29634304]",y,y +GARD:0000125,Orphanet,38,ORPHA:38,12,HP:0006089,Palmar hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:29080320, PMID:29634304]",y,y +GARD:0000125,Orphanet,38,ORPHA:38,12,HP:0025092,Epidermal acanthosis,Very frequent (99-80%),TAS,,,,"[PMID:29080320, PMID:29634304]",y,y +GARD:0000125,Orphanet,38,ORPHA:38,12,HP:0025114,Hypergranulosis,Frequent (79-30%),TAS,,,,"[PMID:29080320, PMID:29634304]",y,y +GARD:0000125,Orphanet,38,ORPHA:38,12,HP:0025167,Fragmented elastic fibers in the dermis,Very frequent (99-80%),TAS,,,,"[PMID:29080320, PMID:29634304]",y,y +GARD:0000125,Orphanet,38,ORPHA:38,12,HP:0025507,Yellow papule,Frequent (79-30%),TAS,,,,"[PMID:29080320, PMID:29634304]",y,y +GARD:0000125,Orphanet,38,ORPHA:38,12,HP:0025509,Piezogenic pedal papules,Occasional (29-5%),TAS,,,,"[PMID:29080320, PMID:29634304]",y,y +GARD:0000125,Orphanet,38,ORPHA:38,12,HP:0040162,Orthokeratosis,Frequent (79-30%),TAS,,,,"[PMID:29080320, PMID:29634304]",y,y +GARD:0000125,Orphanet,38,ORPHA:38,12,HP:0045059,Hyperkeratotic papule,Very frequent (99-80%),TAS,,,,"[PMID:29080320, PMID:29634304]",y,y +GARD:0000125,Orphanet,38,ORPHA:38,12,HP:0200035,Skin plaque,Occasional (29-5%),TAS,,,,"[PMID:29080320, PMID:29634304]",y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0001357,Plagiocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0005487,Prominent metopic ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0010044,Short 4th metacarpal,Occasional (29-5%),TAS,,,,,y,y +GARD:0000127,Orphanet,3210,ORPHA:3210,20,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0000162,Glossoptosis,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0001216,Delayed ossification of carpal bones,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0002176,Spinal cord compression,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0002795,Abnormal respiratory system physiology,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0003015,Flared metaphysis,Very frequent (99-80%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0003173,Hypoplastic pubic bone,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0003468,Abnormal vertebral morphology,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0005193,Restricted large joint movement,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0008462,Cervical instability,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0008755,Laryngotracheomalacia,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0008800,Limited hip movement,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0010585,Small epiphyses,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0045060,Aplasia/hypoplasia involving bones of the extremities,Very frequent (99-80%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000134,Orphanet,93346,ORPHA:93346,24,HP:0100569,Abnormally ossified vertebrae,Frequent (79-30%),TAS,,,,"[PMID:31021589, PMID:7550321]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0001396,Cholestasis,Occasional (29-5%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0001907,Thromboembolism,Occasional (29-5%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0002617,Vascular dilatation,Very rare (<4-1%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0004944,Dilatation of the cerebral artery,Very rare (<4-1%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0006689,Bacterial endocarditis,Occasional (29-5%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0006691,Pulmonic valve myxoma,Very frequent (99-80%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0011672,Cardiac myxoma,Obligate (100%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0030148,Heart murmur,Very frequent (99-80%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000139,Orphanet,615,ORPHA:615,18,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:1180432, PMID:1540058, PMID:4725591, PMID:5115867, PMID:686891, PMID:9066386]",y,y +GARD:0000140,Orphanet,1201,ORPHA:1201,10,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:10594884, PMID:5681166, PMID:5907010]",y,y +GARD:0000140,Orphanet,1201,ORPHA:1201,10,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:10594884, PMID:5681166, PMID:5907010]",y,y +GARD:0000140,Orphanet,1201,ORPHA:1201,10,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:10594884, PMID:5681166, PMID:5907010]",y,y +GARD:0000140,Orphanet,1201,ORPHA:1201,10,HP:0002566,Intestinal malrotation,Frequent (79-30%),TAS,,,,"[PMID:10594884, PMID:5681166, PMID:5907010]",y,y +GARD:0000140,Orphanet,1201,ORPHA:1201,10,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:10594884, PMID:5681166, PMID:5907010]",y,y +GARD:0000140,Orphanet,1201,ORPHA:1201,10,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:10594884, PMID:5681166, PMID:5907010]",y,y +GARD:0000140,Orphanet,1201,ORPHA:1201,10,HP:0005235,Jejunal atresia,Frequent (79-30%),TAS,,,,"[PMID:10594884, PMID:5681166, PMID:5907010]",y,y +GARD:0000140,Orphanet,1201,ORPHA:1201,10,HP:0005245,Intestinal hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:10594884, PMID:5681166, PMID:5907010]",y,y +GARD:0000140,Orphanet,1201,ORPHA:1201,10,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:10594884, PMID:5681166, PMID:5907010]",y,y +GARD:0000140,Orphanet,1201,ORPHA:1201,10,HP:0025015,Abnormal vascular morphology,Frequent (79-30%),TAS,,,,"[PMID:10594884, PMID:5681166, PMID:5907010]",y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0000271,Abnormality of the face,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0000311,Round face,Frequent (79-30%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0000464,Abnormality of the neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0000492,Abnormal eyelid morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0000499,Abnormal eyelash morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0000614,Abnormal nasolacrimal system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0002300,Mutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0002357,Dysphasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0002381,Aphasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0009811,Abnormality of the elbow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0010529,Echolalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000143,Orphanet,2220,ORPHA:2220,28,HP:0011121,Abnormality of skin morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0000046,Small scrotum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0000396,Overfolded helix,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0000474,Thickened nuchal skin fold,Frequent (79-30%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0002057,Prominent glabella,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0010720,Abnormal hair pattern,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0012745,Short palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000144,Orphanet,2083,ORPHA:2083,31,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0000366,Abnormality of the nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0001177,Preaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0001199,Triphalangeal thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0001841,Preaxial foot polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0001883,Talipes,Frequent (79-30%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0002000,Short columella,Frequent (79-30%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0003019,Abnormality of the wrist,Frequent (79-30%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0003974,Absent radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0008368,Tarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0009556,Absent tibia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0009601,Aplasia/Hypoplasia of the thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0010503,Fibular duplication,Frequent (79-30%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0010689,Mirror image polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000155,Orphanet,2378,ORPHA:2378,28,HP:0100524,Limb duplication,Frequent (79-30%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0000156,Orphanet,588,ORPHA:588,23,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000157,Orphanet,2155,ORPHA:2155,7,HP:0000104,Renal agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000157,Orphanet,2155,ORPHA:2155,7,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000157,Orphanet,2155,ORPHA:2155,7,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000157,Orphanet,2155,ORPHA:2155,7,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000157,Orphanet,2155,ORPHA:2155,7,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0000157,Orphanet,2155,ORPHA:2155,7,HP:0001829,Foot polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000157,Orphanet,2155,ORPHA:2155,7,HP:0002251,Aganglionic megacolon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0002273,Tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0002371,Loss of speech,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0007875,Congenital blindness,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0008610,Infantile sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0010522,Dyslexia,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0010896,Hypersarcosinemia,Obligate (100%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0010897,Hypersarcosinuria,Very frequent (99-80%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0011727,Peroneal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000158,Orphanet,3129,ORPHA:3129,22,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,"[PMID:22825317, PMID:2420598, PMID:5504071, PMID:5936868, PMID:6207480, PMID:9323574]",y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0000010,Recurrent urinary tract infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0000073,Ureteral duplication,Occasional (29-5%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0000385,Small earlobe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0000625,Eyelid coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0000951,Abnormality of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0001965,Abnormal scalp morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0005580,Duplication of renal pelvis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0006709,Aplasia/Hypoplasia of the nipples,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0011251,Underdeveloped antitragus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0011272,Underdeveloped tragus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0012330,Pyelonephritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0100651,Type I diabetes mellitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000159,Orphanet,2036,ORPHA:2036,25,HP:0100783,Breast aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0000013,Hypoplasia of the uterus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0000130,Abnormality of the uterus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0000137,Abnormality of the ovary,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0000141,Amenorrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0001367,Abnormal joint morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0002289,Alopecia universalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0002815,Abnormality of the knee,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0002823,Abnormality of femur morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0002970,Genu varum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0003019,Abnormality of the wrist,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0003063,Abnormality of the humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0003307,Hyperlordosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0008724,Hypoplasia of the ovary,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0009806,Nephrogenic diabetes insipidus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0011964,Intermittent painful muscle spasms,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000160,Orphanet,3130,ORPHA:3130,24,HP:0200102,Sparse or absent eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0004428,Elfin facies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0006709,Aplasia/Hypoplasia of the nipples,Frequent (79-30%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0009465,Ulnar deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000162,Orphanet,2013,ORPHA:2013,19,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000166,Orphanet,799,ORPHA:799,10,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000166,Orphanet,799,ORPHA:799,10,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0000166,Orphanet,799,ORPHA:799,10,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000166,Orphanet,799,ORPHA:799,10,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000166,Orphanet,799,ORPHA:799,10,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0000166,Orphanet,799,ORPHA:799,10,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000166,Orphanet,799,ORPHA:799,10,HP:0002132,Porencephalic cyst,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000166,Orphanet,799,ORPHA:799,10,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000166,Orphanet,799,ORPHA:799,10,HP:0002510,Spastic tetraplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000166,Orphanet,799,ORPHA:799,10,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0000773,Short ribs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0000882,Hypoplastic scapulae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0000895,Lateral clavicle hook,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0000946,Hypoplastic ilia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0000947,Dumbbell-shaped long bone,Occasional (29-5%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0003038,Fibular hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0005019,Diaphyseal thickening,Occasional (29-5%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0005616,Accelerated skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0008108,Advanced tarsal ossification,Occasional (29-5%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0008479,Hypoplastic vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000169,Orphanet,3144,ORPHA:3144,26,HP:0012107,Increased fibular diameter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000176,Orphanet,592,ORPHA:592,6,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000176,Orphanet,592,ORPHA:592,6,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000176,Orphanet,592,ORPHA:592,6,HP:0003324,Generalized muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000176,Orphanet,592,ORPHA:592,6,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000176,Orphanet,592,ORPHA:592,6,HP:0003457,EMG abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0000176,Orphanet,592,ORPHA:592,6,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000177,Orphanet,2432,ORPHA:2432,11,HP:0000235,Abnormality of the fontanelles or cranial sutures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000177,Orphanet,2432,ORPHA:2432,11,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000177,Orphanet,2432,ORPHA:2432,11,HP:0000482,Microcornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000177,Orphanet,2432,ORPHA:2432,11,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000177,Orphanet,2432,ORPHA:2432,11,HP:0001520,Large for gestational age,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000177,Orphanet,2432,ORPHA:2432,11,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0000177,Orphanet,2432,ORPHA:2432,11,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000177,Orphanet,2432,ORPHA:2432,11,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000177,Orphanet,2432,ORPHA:2432,11,HP:0002648,Abnormality of calvarial morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000177,Orphanet,2432,ORPHA:2432,11,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000177,Orphanet,2432,ORPHA:2432,11,HP:0009099,Median cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000215,Thick upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000625,Eyelid coloboma,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000679,Taurodontia,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000689,Dental malocclusion,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000820,Abnormality of the thyroid gland,Excluded (0%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000879,Short sternum,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0000965,Cutis marmorata,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0001176,Large hands,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0001513,Obesity,Obligate (100%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0001520,Large for gestational age,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0001548,Overgrowth,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0001795,Hyperconvex nail,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0001833,Long foot,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0002980,Femoral bowing,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0006585,Congenital pseudoarthrosis of the clavicle,Occasional (29-5%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0007633,Bilateral microphthalmos,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0008577,Underfolded helix,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0011849,Abnormal bone ossification,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0012810,Wide nasal base,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000178,Orphanet,2563,ORPHA:2563,44,HP:0025112,Sound sensitivity,Frequent (79-30%),TAS,,,,"[PMID:11045586, PMID:19048502, PMID:19996736, PMID:22821547, PMID:23034868, PMID:8322820]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0000123,Nephritis,Frequent (79-30%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0000132,Menorrhagia,Frequent (79-30%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0001658,Myocardial infarction,Very rare (<4-1%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0001902,Giant platelets,Frequent (79-30%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0001905,Congenital thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0003010,Prolonged bleeding time,Frequent (79-30%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0004406,"Spontaneous, recurrent epistaxis",Frequent (79-30%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0007819,Presenile cataracts,Frequent (79-30%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0008264,Neutrophil inclusion bodies,Frequent (79-30%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000180,Orphanet,182050,ORPHA:182050,16,HP:0011877,Increased mean platelet volume,Frequent (79-30%),TAS,,,,"[PMID:10973259, PMID:10973260, PMID:19408192, PMID:20174760, PMID:21009925]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0000493,Abnormal foveal morphology,Very frequent (99-80%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0000551,Color vision defect,Very frequent (99-80%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0000603,Central scotoma,Very frequent (99-80%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0000608,Macular degeneration,Very frequent (99-80%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0000610,Abnormal choroid morphology,Very frequent (99-80%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0000649,Abnormality of visual evoked potentials,Very frequent (99-80%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0000662,Nyctalopia,Very frequent (99-80%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0007663,Reduced visual acuity,Obligate (100%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0007704,Paroxysmal involuntary eye movements,Very frequent (99-80%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0007722,Retinal pigment epithelial atrophy,Very frequent (99-80%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0007814,Retinal pigment epithelial mottling,Very frequent (99-80%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0008002,Abnormality of macular pigmentation,Very frequent (99-80%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0008059,Aplasia/Hypoplasia of the macula,Frequent (79-30%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0030329,Retinal thinning,Very frequent (99-80%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000181,Orphanet,827,ORPHA:827,15,HP:0030500,Yellow/white lesions of the macula,Frequent (79-30%),TAS,,,,"[PMID:27491360, PMID:27739528]",y,y +GARD:0000182,Orphanet,1243,ORPHA:1243,6,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000182,Orphanet,1243,ORPHA:1243,6,HP:0000551,Color vision defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0000182,Orphanet,1243,ORPHA:1243,6,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000182,Orphanet,1243,ORPHA:1243,6,HP:0001139,Choroideremia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000182,Orphanet,1243,ORPHA:1243,6,HP:0008028,Cystoid macular degeneration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000182,Orphanet,1243,ORPHA:1243,6,HP:0012508,Metamorphopsia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0000246,Sinusitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0001806,Onycholysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0002102,Pleuritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0002110,Bronchiectasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0003759,Hypoplasia of lymphatic vessels,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0009726,Renal neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0011354,Generalized abnormality of skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0011367,Yellow nails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0012384,Rhinitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0100242,Sarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0100526,Neoplasm of the lung,Occasional (29-5%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0100574,Biliary tract neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0100797,Toenail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000184,Orphanet,662,ORPHA:662,24,HP:0100798,Fingernail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000192,Orphanet,1381,ORPHA:1381,12,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000192,Orphanet,1381,ORPHA:1381,12,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0000192,Orphanet,1381,ORPHA:1381,12,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000192,Orphanet,1381,ORPHA:1381,12,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000192,Orphanet,1381,ORPHA:1381,12,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000192,Orphanet,1381,ORPHA:1381,12,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000192,Orphanet,1381,ORPHA:1381,12,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000192,Orphanet,1381,ORPHA:1381,12,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0000192,Orphanet,1381,ORPHA:1381,12,HP:0002023,Anal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000192,Orphanet,1381,ORPHA:1381,12,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000192,Orphanet,1381,ORPHA:1381,12,HP:0008063,Aplasia/Hypoplasia of the lens,Occasional (29-5%),TAS,,,,,y,y +GARD:0000192,Orphanet,1381,ORPHA:1381,12,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000049,Shawl scrotum,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000239,Large fontanelles,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000349,Widow's peak,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000539,Abnormality of refraction,Very rare (<4-1%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000668,Hypodontia,Very rare (<4-1%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000695,Natal tooth,Very rare (<4-1%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0000813,Bicornuate uterus,Very rare (<4-1%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0002100,Recurrent aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0002616,Aortic root aneurysm,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0002779,Tracheomalacia,Very rare (<4-1%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0003422,Vertebral segmentation defect,Very rare (<4-1%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0004467,Preauricular pit,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0005301,Persistent left superior vena cava,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0006817,Aplasia/Hypoplasia of the cerebellar vermis,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0008751,Laryngeal cleft,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0010296,Ankyloglossia,Very rare (<4-1%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0010307,Stridor,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0010518,Thyroglossal cyst,Very rare (<4-1%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0012443,Abnormality of brain morphology,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0031936,Delayed ability to walk,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0100879,Enlarged ovaries,Occasional (29-5%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000193,Orphanet,2745,ORPHA:2745,75,HP:0410030,Cleft lip,Frequent (79-30%),TAS,,,,"[PMID:20301502, PMID:30472488]",y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0000597,Ophthalmoparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0002047,Malignant hyperthermia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0002153,Hyperkalemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0002486,Myotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0002900,Hypokalemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0003712,Skeletal muscle hypertrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0003752,Episodic flaccid weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0007215,Periodic hyperkalemic paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0100021,Cerebral palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0100613,Death in early adulthood,Occasional (29-5%),TAS,,,,,y,y +GARD:0000195,Orphanet,682,ORPHA:682,29,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0000201,Orphanet,1253,ORPHA:1253,12,HP:0000177,Abnormality of upper lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000201,Orphanet,1253,ORPHA:1253,12,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000201,Orphanet,1253,ORPHA:1253,12,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000201,Orphanet,1253,ORPHA:1253,12,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0000201,Orphanet,1253,ORPHA:1253,12,HP:0000492,Abnormal eyelid morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000201,Orphanet,1253,ORPHA:1253,12,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000201,Orphanet,1253,ORPHA:1253,12,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000201,Orphanet,1253,ORPHA:1253,12,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000201,Orphanet,1253,ORPHA:1253,12,HP:0000821,Hypothyroidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000201,Orphanet,1253,ORPHA:1253,12,HP:0000853,Goiter,Frequent (79-30%),TAS,,,,,y,y +GARD:0000201,Orphanet,1253,ORPHA:1253,12,HP:0004097,Deviation of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000201,Orphanet,1253,ORPHA:1253,12,HP:0012724,Upper eyelid edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000206,Orphanet,655,ORPHA:655,3,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0000206,Orphanet,655,ORPHA:655,3,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000206,Orphanet,655,ORPHA:655,3,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0000766,Abnormal sternum morphology,Occasional (29-5%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0000775,Abnormality of the diaphragm,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0001260,Dysarthria,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0001269,Hemiparesis,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0001407,Hepatic cysts,Very frequent (99-80%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0001409,Portal hypertension,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0001410,Decreased liver function,Frequent (79-30%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0001697,Abnormal pericardium morphology,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0001737,Pancreatic cysts,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0001880,Eosinophilia,Very frequent (99-80%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0002013,Vomiting,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0002321,Vertigo,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0002381,Aphasia,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0002516,Increased intracranial pressure,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0002613,Biliary cirrhosis,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0002639,Budd-Chiari syndrome,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0003419,Low back pain,Frequent (79-30%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0003468,Abnormal vertebral morphology,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0010576,Intracranial cystic lesion,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0010702,Increased circulating antibody level,Very frequent (99-80%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0010766,Ectopic calcification,Occasional (29-5%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0011732,Abnormality of adrenal morphology,Occasional (29-5%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0011805,Abnormal skeletal muscle morphology,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0012062,Bone cyst,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0025406,Asthenia,Frequent (79-30%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0025408,Abnormal spleen morphology,Occasional (29-5%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0025487,Abnormality of bladder morphology,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0030151,Cholangitis,Occasional (29-5%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0031292,Cutaneous abscess,Occasional (29-5%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0032445,Pulmonary cyst,Occasional (29-5%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0040163,Abnormal pelvis bone morphology,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0100016,Abnormality of mesentery morphology,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0100523,Liver abscess,Very rare (<4-1%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000207,Orphanet,284,ORPHA:284,50,HP:0410019,Epigastric pain,Frequent (79-30%),TAS,,,,"[PMID:20683265, PMID:27082120, PMID:29564733]",y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000008,Abnormal morphology of female internal genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000069,Abnormality of the ureter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000078,Abnormality of the genital system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000079,Abnormality of the urinary system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000107,Renal cyst,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000384,Preauricular skin tag,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000776,Congenital diaphragmatic hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000921,Missing ribs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0001140,Limbal dermoid,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0001392,Abnormality of the liver,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0001539,Omphalocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0001562,Oligohydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0001743,Abnormality of the spleen,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0002023,Anal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0002242,Abnormal intestine morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0002575,Tracheoesophageal fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0002815,Abnormality of the knee,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0003422,Vertebral segmentation defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0008678,Renal hypoplasia/aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0012718,Morphological abnormality of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0012732,Anorectal anomaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000213,Orphanet,1834,ORPHA:1834,42,HP:0100542,Abnormal localization of kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0000189,Narrow palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0002648,Abnormality of calvarial morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0003307,Hyperlordosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0003422,Vertebral segmentation defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0004422,Biparietal narrowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000216,Orphanet,1323,ORPHA:1323,22,HP:0100555,Asymmetric growth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000218,Orphanet,3111,ORPHA:3111,10,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,"[PMID:20955959, PMID:22232210, PMID:23236639, PMID:26595536]",y,y +GARD:0000218,Orphanet,3111,ORPHA:3111,10,HP:0000989,Pruritus,Excluded (0%),TAS,,,,"[PMID:20955959, PMID:22232210, PMID:23236639, PMID:26595536]",y,y +GARD:0000218,Orphanet,3111,ORPHA:3111,10,HP:0001046,Intermittent jaundice,Occasional (29-5%),TAS,,,,"[PMID:20955959, PMID:22232210, PMID:23236639, PMID:26595536]",y,y +GARD:0000218,Orphanet,3111,ORPHA:3111,10,HP:0002904,Hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:20955959, PMID:22232210, PMID:23236639, PMID:26595536]",y,y +GARD:0000218,Orphanet,3111,ORPHA:3111,10,HP:0002908,Conjugated hyperbilirubinemia,Very frequent (99-80%),TAS,,,,"[PMID:20955959, PMID:22232210, PMID:23236639, PMID:26595536]",y,y +GARD:0000218,Orphanet,3111,ORPHA:3111,10,HP:0010473,Porphyrinuria,Frequent (79-30%),TAS,,,,"[PMID:20955959, PMID:22232210, PMID:23236639, PMID:26595536]",y,y +GARD:0000218,Orphanet,3111,ORPHA:3111,10,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20955959, PMID:22232210, PMID:23236639, PMID:26595536]",y,y +GARD:0000218,Orphanet,3111,ORPHA:3111,10,HP:0031137,Storage in hepatocytes,Excluded (0%),TAS,,,,"[PMID:20955959, PMID:22232210, PMID:23236639, PMID:26595536]",y,y +GARD:0000218,Orphanet,3111,ORPHA:3111,10,HP:0031811,Bilirubinuria,Frequent (79-30%),TAS,,,,"[PMID:20955959, PMID:22232210, PMID:23236639, PMID:26595536]",y,y +GARD:0000218,Orphanet,3111,ORPHA:3111,10,HP:0032106,Conjunctival icterus,Occasional (29-5%),TAS,,,,"[PMID:20955959, PMID:22232210, PMID:23236639, PMID:26595536]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0000819,Diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0001513,Obesity,Very rare (<4-1%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0001644,Dilated cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0001708,Right ventricular failure,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0001712,Left ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0001903,Anemia,Very rare (<4-1%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0001907,Thromboembolism,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0002027,Abdominal pain,Very rare (<4-1%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0002099,Asthma,Very rare (<4-1%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0002401,Stroke-like episode,Very rare (<4-1%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0002878,Respiratory failure,Very rare (<4-1%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0002926,Abnormality of thyroid physiology,Very rare (<4-1%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0002960,Autoimmunity,Very rare (<4-1%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0004756,Ventricular tachycardia,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0005120,Abnormal cardiac atrium morphology,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0005133,Right ventricular dilatation,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0005135,Abnormal T-wave,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0006705,Abnormal atrioventricular valve morphology,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0011703,Sinus tachycardia,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0011713,Left bundle branch block,Very rare (<4-1%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0012398,Peripheral edema,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0012664,Reduced ejection fraction,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0012763,Paroxysmal dyspnea,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0012764,Orthopnea,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0025169,Left ventricular systolic dysfunction,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0030148,Heart murmur,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0030149,Cardiogenic shock,Very rare (<4-1%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0030356,Increased serum interferon-gamma level,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0030830,Crackles,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0030848,Elevated jugular venous pressure,Frequent (79-30%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0031295,Left atrial enlargement,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0100602,Preeclampsia,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0100603,Toxemia of pregnancy,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000220,Orphanet,563,ORPHA:563,45,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:25636745, PMID:27045128, PMID:28765406]",y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0000003,Multicystic kidney dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0000104,Renal agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0000110,Renal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0002202,Pleural effusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0002878,Respiratory failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0002984,Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0008678,Renal hypoplasia/aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0009811,Abnormality of the elbow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000224,Orphanet,3015,ORPHA:3015,24,HP:0010310,Chylothorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000225,Orphanet,93321,ORPHA:93321,6,HP:0001172,Abnormal thumb morphology,Very frequent (99-80%),TAS,,,,"[PMID:17105006, PMID:5478898]",y,y +GARD:0000225,Orphanet,93321,ORPHA:93321,6,HP:0004243,Abnormality of the scaphoid,Very frequent (99-80%),TAS,,,,"[PMID:17105006, PMID:5478898]",y,y +GARD:0000225,Orphanet,93321,ORPHA:93321,6,HP:0004252,Abnormality of the trapezium,Very frequent (99-80%),TAS,,,,"[PMID:17105006, PMID:5478898]",y,y +GARD:0000225,Orphanet,93321,ORPHA:93321,6,HP:0006501,Aplasia/Hypoplasia of the radius,Obligate (100%),TAS,,,,"[PMID:17105006, PMID:5478898]",y,y +GARD:0000225,Orphanet,93321,ORPHA:93321,6,HP:0009484,Deviation of the hand or of fingers of the hand,Very frequent (99-80%),TAS,,,,"[PMID:17105006, PMID:5478898]",y,y +GARD:0000225,Orphanet,93321,ORPHA:93321,6,HP:0010035,Aplasia of the 1st metacarpal,Very frequent (99-80%),TAS,,,,"[PMID:17105006, PMID:5478898]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000040,Long penis,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000221,Furrowed tongue,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000831,Insulin-resistant diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000855,Insulin resistance,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000956,Acanthosis nigricans,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0000998,Hypertrichosis,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0001953,Diabetic ketoacidosis,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0002216,Premature graying of hair,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0002900,Hypokalemia,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0003162,Fasting hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0003758,Reduced subcutaneous adipose tissue,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0006288,Advanced eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0007305,CNS demyelination,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0008283,Fasting hyperinsulinemia,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0008665,Clitoral hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0008850,Severe postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0010442,Polydactyly,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0011998,Postprandial hyperglycemia,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0012542,Onychauxis,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0012686,Increased pineal volume,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0030088,Increased serum testosterone level,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0030348,Increased circulating androgen concentration,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0030796,Increased C-peptide level,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0031452,Lichenoid skin lesion,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0040270,Impaired glucose tolerance,Occasional (29-5%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0100874,Thick hair,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000226,Orphanet,769,ORPHA:769,56,HP:0100879,Enlarged ovaries,Frequent (79-30%),TAS,,,,"[PMID:25484423, PMID:28663160, PMID:29082893, PMID:29369573]",y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0000262,Turricephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0000298,Mask-like facies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0001317,Abnormal cerebellum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0001320,Cerebellar vermis hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0002293,Alopecia of scalp,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0002363,Abnormal brainstem morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0007328,Impaired pain sensation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000229,Orphanet,1532,ORPHA:1532,22,HP:0100797,Toenail dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0000378,Cupped ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0002057,Prominent glabella,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000230,Orphanet,2533,ORPHA:2533,15,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0000089,Renal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0000133,Gonadal dysgenesis,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0000786,Primary amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0000869,Secondary amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001264,Spastic diplegia,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0002344,Progressive neurologic deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0004481,Progressive macrocephaly,Very rare (<4-1%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0006978,Dysmyelinating leukodystrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0007361,Abnormal pons morphology,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0007366,Atrophy/Degeneration affecting the brainstem,Frequent (79-30%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0008209,Premature ovarian insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0008288,Nonketotic hyperglycinemia,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0012690,T2 hypointense thalamus,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0032398,Dysgyria,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0100653,Optic neuritis,Occasional (29-5%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000231,Orphanet,135,ORPHA:135,54,HP:0410263,Brain imaging abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20301435, PMID:29740943]",y,y +GARD:0000232,Orphanet,1309,ORPHA:1309,5,HP:0000787,Nephrolithiasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000232,Orphanet,1309,ORPHA:1309,5,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0000232,Orphanet,1309,ORPHA:1309,5,HP:0001528,Hemihypertrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000232,Orphanet,1309,ORPHA:1309,5,HP:0002150,Hypercalciuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0000232,Orphanet,1309,ORPHA:1309,5,HP:0008341,Distal renal tubular acidosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0000253,Progressive microcephaly,Occasional (29-5%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0002154,Hyperglycinemia,Frequent (79-30%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0002448,Progressive encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0003108,Hyperglycinuria,Frequent (79-30%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0008288,Nonketotic hyperglycinemia,Occasional (29-5%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0012736,Profound global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0025356,Psychomotor retardation,Frequent (79-30%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0030781,Increased circulating free fatty acid level,Frequent (79-30%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0100704,Cerebral visual impairment,Occasional (29-5%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000234,Orphanet,941,ORPHA:941,26,HP:0500230,Increased CSF glycine concentration,Frequent (79-30%),TAS,,,,"[PMID:26247153, PMID:28462797, PMID:30637540]",y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0000829,Hypoparathyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0001634,Mitral valve prolapse,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0001798,Anonychia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000237,Orphanet,1563,ORPHA:1563,17,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000238,Orphanet,2724,ORPHA:2724,6,HP:0001399,Hepatic failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000238,Orphanet,2724,ORPHA:2724,6,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000238,Orphanet,2724,ORPHA:2724,6,HP:0002621,Atherosclerosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000238,Orphanet,2724,ORPHA:2724,6,HP:0011068,Odontoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000238,Orphanet,2724,ORPHA:2724,6,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000238,Orphanet,2724,ORPHA:2724,6,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000608,Macular degeneration,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000692,Tooth malposition,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0001193,Ulnar deviation of the hand or of fingers of the hand,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0001583,Rotary nystagmus,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0001772,Talipes equinovalgus,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0002654,Multiple epiphyseal dysplasia,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0002843,Abnormal T cell morphology,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0003065,Patellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0004315,Decreased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0005001,Recurrent patellar dislocation,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0005432,Transient hypogammaglobulinemia of infancy,Very frequent (99-80%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0005659,Thoracic kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0006380,Knee flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0006895,Lower limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0007034,Generalized hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0007105,Infantile encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0009553,Abnormality of the hairline,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0011431,Fetal fifth finger clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0011448,Ankle clonus,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0012219,Erythema nodosum,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0012490,Panniculitis,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0031008,Lingual dystonia,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0040238,Impaired neutrophil chemotaxis,Frequent (79-30%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000239,Orphanet,3132,ORPHA:3132,57,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,"[PMID:10189087, PMID:10733244, PMID:19108857, PMID:3746838, PMID:8728697]",y,y +GARD:0000241,Orphanet,1003,ORPHA:1003,4,HP:0001362,Calvarial skull defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0000241,Orphanet,1003,ORPHA:1003,4,HP:0002084,Encephalocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0000241,Orphanet,1003,ORPHA:1003,4,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0000241,Orphanet,1003,ORPHA:1003,4,HP:0005696,Postaxial polydactyly type A,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0000216,Broad secondary alveolar ridge,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0000237,Small anterior fontanelle,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0000243,Trigonocephaly,Very frequent (99-80%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0000341,Narrow forehead,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0003683,Large beaked nose,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0005484,Secondary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0005494,Premature posterior fontanelle closure,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0005495,Metopic suture patent to nasal root,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0005769,Fifth finger distal phalanx clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000243,Orphanet,3369,ORPHA:3369,23,HP:0011324,Multiple suture craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:1271432, PMID:6168197]",y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,[PMID:7294060],y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,[PMID:7294060],y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:7294060],y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,[PMID:7294060],y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,[PMID:7294060],y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0001539,Omphalocele,Very frequent (99-80%),TAS,,,,[PMID:7294060],y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,[PMID:7294060],y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,[PMID:7294060],y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0002084,Encephalocele,Frequent (79-30%),TAS,,,,[PMID:7294060],y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0002323,Anencephaly,Very frequent (99-80%),TAS,,,,[PMID:7294060],y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0002414,Spina bifida,Frequent (79-30%),TAS,,,,[PMID:7294060],y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,[PMID:7294060],y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0002983,Micromelia,Occasional (29-5%),TAS,,,,[PMID:7294060],y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,[PMID:7294060],y,y +GARD:0000246,Orphanet,63862,ORPHA:63862,15,HP:0100333,Unilateral cleft lip,Very frequent (99-80%),TAS,,,,[PMID:7294060],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000048,Bifid scrotum,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000051,Perineal hypospadias,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000879,Short sternum,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0000973,Cutis laxa,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0001540,Diastasis recti,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0002557,Hypoplastic nipples,Occasional (29-5%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0011084,Hypocalcification of dental enamel,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0012028,Hepatocellular adenoma,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000247,Orphanet,3134,ORPHA:3134,32,HP:0012810,Wide nasal base,Frequent (79-30%),TAS,,,,[PMID:2596519],y,y +GARD:0000248,Orphanet,1383,ORPHA:1383,6,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,[PMID:8574417],y,y +GARD:0000248,Orphanet,1383,ORPHA:1383,6,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:8574417],y,y +GARD:0000248,Orphanet,1383,ORPHA:1383,6,HP:0000519,Developmental cataract,Frequent (79-30%),TAS,,,,[PMID:8574417],y,y +GARD:0000248,Orphanet,1383,ORPHA:1383,6,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,[PMID:8574417],y,y +GARD:0000248,Orphanet,1383,ORPHA:1383,6,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:8574417],y,y +GARD:0000248,Orphanet,1383,ORPHA:1383,6,HP:0004554,Generalized hypertrichosis,Frequent (79-30%),TAS,,,,[PMID:8574417],y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000069,Abnormality of the ureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000205,Pursed lips,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000211,Trismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000298,Mask-like facies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000534,Abnormal eyebrow morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000600,Abnormality of the pharynx,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000643,Blepharospasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000912,Sprengel anomaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001083,Ectopia lentis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001239,Wrist flexion contracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001385,Hip dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001557,Prenatal movement abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001620,High pitched voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001621,Weak voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002047,Malignant hyperthermia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002486,Myotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002645,Wormian bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002673,Coxa valga,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002812,Coxa vara,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0003042,Elbow dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0003044,Shoulder flexion contracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0003179,Protrusio acetabuli,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0003273,Hip contracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0003306,Spinal rigidity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0003712,Skeletal muscle hypertrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0004325,Decreased body weight,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0005830,Flexion contracture of toe,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0007740,Long eyelashes in irregular rows,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0009743,Distichiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0010508,Metatarsus valgus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0010978,Abnormality of immune system physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0011001,Increased bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0012544,Elevated aldolase level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0100569,Abnormally ossified vertebrae,Frequent (79-30%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0100612,Odontogenic neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0100795,Abnormally straight spine,Occasional (29-5%),TAS,,,,,y,y +GARD:0000250,Orphanet,800,ORPHA:800,112,HP:0100813,Testicular torsion,Occasional (29-5%),TAS,,,,,y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000635,Blue irides,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000742,Self-mutilation,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0001187,Hyperextensibility of the finger joints,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0001840,Metatarsus adductus,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0001956,Truncal obesity,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0002234,Early balding,Very frequent (99-80%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0002292,Frontal balding,Very frequent (99-80%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0002378,Hand tremor,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0002942,Thoracic kyphosis,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0002944,Thoracolumbar scoliosis,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0003065,Patellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0003086,Acromesomelia,Very frequent (99-80%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0003199,Decreased muscle mass,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0003241,External genital hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0003758,Reduced subcutaneous adipose tissue,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0004692,4-5 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0005469,Flat occiput,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0008414,Lumbar kyphosis in infancy,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0009738,Abnormal antihelix morphology,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0010499,Patellar subluxation,Frequent (79-30%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000257,Orphanet,3041,ORPHA:3041,54,HP:0030044,Flexion contracture of digit,Occasional (29-5%),TAS,,,,"[PMID:2002488, PMID:20624501, PMID:8487281]",y,y +GARD:0000258,Orphanet,2252,ORPHA:2252,6,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000258,Orphanet,2252,ORPHA:2252,6,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000258,Orphanet,2252,ORPHA:2252,6,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000258,Orphanet,2252,ORPHA:2252,6,HP:0002984,Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000258,Orphanet,2252,ORPHA:2252,6,HP:0005725,Nonopposable triphalangeal thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000258,Orphanet,2252,ORPHA:2252,6,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0009806,Nephrogenic diabetes insipidus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000259,Orphanet,3145,ORPHA:3145,15,HP:0011069,Supernumerary tooth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0000510,Rod-cone dystrophy,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0000543,Optic disc pallor,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0000618,Blindness,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0000763,Sensory neuropathy,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0001133,Constriction of peripheral visual field,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0001136,Retinal arteriolar tortuosity,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0003739,Myoclonic spasms,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0007117,Corticospinal tract atrophy,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0007814,Retinal pigment epithelial mottling,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0008316,Abnormal mitochondria in muscle tissue,Excluded (0%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0012751,Abnormal basal ganglia MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000262,Orphanet,644,ORPHA:644,28,HP:0030588,Abnormal visual field test,Frequent (79-30%),TAS,,,,"[PMID:19124644, PMID:2137962]",y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0002656,Epiphyseal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0002812,Coxa vara,Frequent (79-30%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0003042,Elbow dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0003083,Dislocated radial head,Occasional (29-5%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0010582,Irregular epiphyses,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000264,Orphanet,1824,ORPHA:1824,21,HP:0100643,Abnormality of nail color,Occasional (29-5%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0002263,Exaggerated cupid's bow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0009836,Broad distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0010059,Broad hallux phalanx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0010109,Short hallux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0010185,Aplasia/Hypoplasia of the distal phalanges of the toes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0010624,Aplastic/hypoplastic toenail,Frequent (79-30%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0010804,Tented upper lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000267,Orphanet,2662,ORPHA:2662,24,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0000143,Rectovaginal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0001199,Triphalangeal thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0002984,Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0005048,Synostosis of carpal bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0006660,Aplastic clavicle,Occasional (29-5%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0009778,Short thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0000269,Orphanet,2307,ORPHA:2307,18,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000035,Abnormal testis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000446,Narrow nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0002121,Generalized non-motor (absence) seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0002133,Status epilepticus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0002300,Mutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0002381,Aphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0005616,Accelerated skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0007392,Excessive wrinkled skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0007665,Curly eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0009836,Broad distal phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0009928,Thick nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0010529,Echolalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0010720,Abnormal hair pattern,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0011097,Epileptic spasm,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0100760,Clubbing of toes,Frequent (79-30%),TAS,,,,,y,y +GARD:0000270,Orphanet,3051,ORPHA:3051,51,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0000104,Renal agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0000356,Abnormality of the outer ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0000482,Microcornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0000528,Anophthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0000587,Abnormality of the optic nerve,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0001195,Single umbilical artery,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0002023,Anal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0002032,Esophageal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0002139,Arrhinencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0002410,Aqueductal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0002575,Tracheoesophageal fistula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0002937,Hemivertebrae,Frequent (79-30%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0002984,Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0008678,Renal hypoplasia/aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0009892,Anotia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0010305,Absence of the sacrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0011027,Abnormal fallopian tube morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0011267,"Microtia, third degree",Occasional (29-5%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000272,Orphanet,3412,ORPHA:3412,33,HP:0100541,Femoral hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000023,Inguinal hernia,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000253,Progressive microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0000973,Cutis laxa,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0001305,Dandy-Walker malformation,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0001350,Slurred speech,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0001374,Congenital hip dislocation,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0001476,Delayed closure of the anterior fontanelle,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0001611,Nasal speech,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0001788,Premature rupture of membranes,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0001869,Deep plantar creases,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0002097,Emphysema,Excluded (0%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0002133,Status epilepticus,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0002645,Wormian bones,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0002761,Generalized joint laxity,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0002812,Coxa vara,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0003160,Abnormal isoelectric focusing of serum transferrin,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0003199,Decreased muscle mass,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0004426,Abnormality of the cheek,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0004993,Slender long bones with narrow diaphyses,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0005272,Prominent nasolabial fold,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0005425,Recurrent sinopulmonary infections,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0006114,Multiple palmar creases,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0006191,Deep palmar crease,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0006891,Thick cerebral cortex,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0007392,Excessive wrinkled skin,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0007407,Excessive skin wrinkling on dorsum of hands and fingers,Obligate (100%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0007457,Prominent veins on trunk,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0008113,Multiple plantar creases,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0009125,Lipodystrophy,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0010838,High nonceruloplasmin-bound serum copper,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0010989,Abnormality of the intrinsic pathway,Occasional (29-5%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0011003,High myopia,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0011995,Atrial septal dilatation,Frequent (79-30%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0025167,Fragmented elastic fibers in the dermis,Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000273,Orphanet,2834,ORPHA:2834,61,HP:0200141,"Small, conical teeth",Very frequent (99-80%),TAS,,,,"[PMID:11424136, PMID:16780467, PMID:19401719, PMID:3321993, PMID:4765201, PMID:8500259, PMID:9916839]",y,y +GARD:0000274,Orphanet,2571,ORPHA:2571,12,HP:0000009,Functional abnormality of the bladder,Frequent (79-30%),TAS,,,,,y,y +GARD:0000274,Orphanet,2571,ORPHA:2571,12,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0000274,Orphanet,2571,ORPHA:2571,12,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000274,Orphanet,2571,ORPHA:2571,12,HP:0000662,Nyctalopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000274,Orphanet,2571,ORPHA:2571,12,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000274,Orphanet,2571,ORPHA:2571,12,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000274,Orphanet,2571,ORPHA:2571,12,HP:0002103,Abnormal pleura morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000274,Orphanet,2571,ORPHA:2571,12,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0000274,Orphanet,2571,ORPHA:2571,12,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000274,Orphanet,2571,ORPHA:2571,12,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000274,Orphanet,2571,ORPHA:2571,12,HP:0008348,Decreased circulating IgG2 level,Frequent (79-30%),TAS,,,,,y,y +GARD:0000274,Orphanet,2571,ORPHA:2571,12,HP:0012638,Abnormal nervous system physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0000078,Abnormality of the genital system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0000561,Absent eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0000858,Irregular menstruation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0002164,Nail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0002223,Absent eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0002552,Trichodysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0002558,Supernumerary nipple,Frequent (79-30%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0007502,Follicular hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0007565,Multiple cafe-au-lait spots,Frequent (79-30%),TAS,,,,,y,y +GARD:0000280,Orphanet,1809,ORPHA:1809,18,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0000169,Gingival fibromatosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0000270,Delayed cranial suture closure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0008501,Median cleft lip and palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000282,Orphanet,1832,ORPHA:1832,20,HP:0009939,Mandibular aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000036,Abnormal penis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000039,Epispadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000048,Bifid scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000049,Shawl scrotum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000270,Delayed cranial suture closure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000625,Eyelid coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0001177,Preaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0001339,Lissencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0002536,Abnormal cortical gyration,Occasional (29-5%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0005469,Flat occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0007227,Macrogyria,Occasional (29-5%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0008388,Abnormal toenail morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0010059,Broad hallux phalanx,Frequent (79-30%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0000287,Orphanet,2211,ORPHA:2211,35,HP:0030769,Exencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000157,Abnormality of the tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000162,Glossoptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000235,Abnormality of the fontanelles or cranial sutures,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000519,Developmental cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000653,Sparse eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000695,Natal tooth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000773,Short ribs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000896,Rib exostoses,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0000929,Abnormal skull morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0002779,Tracheomalacia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0003363,Abdominal situs inversus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0003508,Proportionate short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0004334,Dermal atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0010719,Abnormality of hair texture,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0011069,Supernumerary tooth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000288,Orphanet,2108,ORPHA:2108,50,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0000135,Hypogonadism,Excluded (0%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0000656,Ectropion,Frequent (79-30%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0000707,Abnormality of the nervous system,Excluded (0%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0000973,Cutis laxa,Frequent (79-30%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0001103,Abnormal macular morphology,Excluded (0%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0001250,Seizure,Excluded (0%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0001257,Spasticity,Excluded (0%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0002063,Rigidity,Excluded (0%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0002221,Absent axillary hair,Very frequent (99-80%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0002293,Alopecia of scalp,Very frequent (99-80%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0002555,Absent pubic hair,Very frequent (99-80%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0005595,Generalized hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0005597,Congenital alopecia totalis,Very frequent (99-80%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0007503,Generalized ichthyosis,Very frequent (99-80%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0010550,Paraplegia,Excluded (0%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0012472,Eclabion,Frequent (79-30%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0025092,Epidermal acanthosis,Frequent (79-30%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0030182,Tetraplegia/tetraparesis,Excluded (0%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0040189,Scaling skin,Frequent (79-30%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000292,Orphanet,2269,ORPHA:2269,26,HP:0045075,Sparse eyebrow,Occasional (29-5%),TAS,,,,"[PMID:27377997, PMID:28976107, PMID:3829441]",y,y +GARD:0000298,Orphanet,2410,ORPHA:2410,13,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,[PMID:6418006],y,y +GARD:0000298,Orphanet,2410,ORPHA:2410,13,HP:0000518,Cataract,Obligate (100%),TAS,,,,[PMID:6418006],y,y +GARD:0000298,Orphanet,2410,ORPHA:2410,13,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,[PMID:6418006],y,y +GARD:0000298,Orphanet,2410,ORPHA:2410,13,HP:0000815,Hypergonadotropic hypogonadism,Obligate (100%),TAS,,,,[PMID:6418006],y,y +GARD:0000298,Orphanet,2410,ORPHA:2410,13,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,[PMID:6418006],y,y +GARD:0000298,Orphanet,2410,ORPHA:2410,13,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,[PMID:6418006],y,y +GARD:0000298,Orphanet,2410,ORPHA:2410,13,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,[PMID:6418006],y,y +GARD:0000298,Orphanet,2410,ORPHA:2410,13,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,[PMID:6418006],y,y +GARD:0000298,Orphanet,2410,ORPHA:2410,13,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,[PMID:6418006],y,y +GARD:0000298,Orphanet,2410,ORPHA:2410,13,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:6418006],y,y +GARD:0000298,Orphanet,2410,ORPHA:2410,13,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,[PMID:6418006],y,y +GARD:0000298,Orphanet,2410,ORPHA:2410,13,HP:0008187,Absence of secondary sex characteristics,Very frequent (99-80%),TAS,,,,[PMID:6418006],y,y +GARD:0000298,Orphanet,2410,ORPHA:2410,13,HP:0008240,Secondary growth hormone deficiency,Very frequent (99-80%),TAS,,,,[PMID:6418006],y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0000217,Xerostomia,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0000491,Keratitis,Very frequent (99-80%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0000587,Abnormality of the optic nerve,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0000610,Abnormal choroid morphology,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0001094,Iridocyclitis,Very frequent (99-80%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0001291,Abnormal cranial nerve morphology,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0005310,Large vessel vasculitis,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0005764,Polyarticular arthritis,Very frequent (99-80%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0006770,Clear cell renal cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0008046,Abnormal retinal vascular morphology,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0010286,Abnormal salivary gland morphology,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0012123,Posterior uveitis,Very frequent (99-80%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0012219,Erythema nodosum,Frequent (79-30%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0012647,Abnormal inflammatory response,Very frequent (99-80%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0100654,Retrobulbar optic neuritis,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0100769,Synovitis,Very frequent (99-80%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000304,Orphanet,90340,ORPHA:90340,45,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:20084402, PMID:25136265]",y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0000446,Narrow nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0000305,Orphanet,3236,ORPHA:3236,16,HP:0008773,Aplasia/Hypoplasia of the middle ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000243,Trigonocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000625,Eyelid coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000656,Ectropion,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000921,Missing ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001734,Annular pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001847,Long hallux,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001863,Toe clinodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0002247,Duodenal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0004378,Abnormality of the anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0004383,Hypoplastic left heart,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0005528,Bone marrow hypocellularity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0007302,Bipolar affective disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0009906,Aplasia/Hypoplasia of the earlobes,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0010059,Broad hallux phalanx,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0010761,Broad columella,Frequent (79-30%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000307,Orphanet,2308,ORPHA:2308,76,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000356,Abnormality of the outer ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000480,Retinal coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000691,Microdontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000717,Autism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0001636,Tetralogy of Fallot,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0001669,Transposition of the great arteries,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0002213,Fine hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0002488,Acute leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0006660,Aplastic clavicle,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0006709,Aplasia/Hypoplasia of the nipples,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0008070,Sparse hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0009767,Aplasia/Hypoplasia of the phalanges of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0010173,Aplasia/Hypoplasia of the phalanges of the toes,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0010882,Pulmonary valve atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0011069,Supernumerary tooth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0012471,Thick vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0100760,Clubbing of toes,Occasional (29-5%),TAS,,,,,y,y +GARD:0000310,Orphanet,3474,ORPHA:3474,48,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000003,Multicystic kidney dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000046,Small scrotum,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000059,Hypoplastic labia majora,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000060,Clitoral hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000187,Broad alveolar ridges,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000207,Triangular mouth,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000410,Mixed hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000454,Flared nostrils,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000692,Tooth malposition,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000902,Rib fusion,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0000921,Missing ribs,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0001159,Syndactyly,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0001537,Umbilical hernia,Very rare (<4-1%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0001792,Small nail,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0002164,Nail dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0002937,Hemivertebrae,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0003086,Acromesomelia,Frequent (79-30%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0003241,External genital hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0005011,Mesomelic arm shortening,Frequent (79-30%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0006291,Marked delay in eruption of permanent teeth,Very rare (<4-1%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0006335,Persistence of primary teeth,Very rare (<4-1%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0006439,Radioulnar dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0009611,Bifid distal phalanx of the thumb,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0009890,High anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0010296,Ankyloglossia,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0010297,Bifid tongue,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0010882,Pulmonary valve atresia,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0011662,Tricuspid atresia,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0012758,Neurodevelopmental delay,Very rare (<4-1%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0030039,Fused thoracic vertebrae,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0030264,Webbed penis,Occasional (29-5%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000312,Orphanet,97360,ORPHA:97360,65,HP:0040171,Decreased serum testosterone concentration,Very rare (<4-1%),TAS,,,,"[PMID:20301418, PMID:25577943]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0001264,Spastic diplegia,Occasional (29-5%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0001507,Growth abnormality,Frequent (79-30%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0001987,Hyperammonemia,Occasional (29-5%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0002066,Gait ataxia,Occasional (29-5%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0002161,Hyperlysinemia,Very frequent (99-80%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0002936,Distal sensory impairment,Occasional (29-5%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0003131,Cystinuria,Occasional (29-5%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0003297,Hyperlysinuria,Frequent (79-30%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0011021,Abnormality of circulating enzyme level,Very frequent (99-80%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0011966,Elevated plasma citrulline,Occasional (29-5%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0032397,Citrullinuria,Occasional (29-5%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000314,Orphanet,3124,ORPHA:3124,19,HP:0500151,Hypercystinemia,Occasional (29-5%),TAS,,,,"[PMID:30573525, PMID:32768327, PMID:33996359]",y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0000049,Shawl scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0000089,Renal hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0001195,Single umbilical artery,Occasional (29-5%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0003022,Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0003026,Short long bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0006492,Aplasia/Hypoplasia of the fibula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0010242,Aplasia of the proximal phalanges of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000320,Orphanet,2256,ORPHA:2256,22,HP:0100016,Abnormality of mesentery morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000321,Orphanet,2613,ORPHA:2613,6,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000321,Orphanet,2613,ORPHA:2613,6,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000321,Orphanet,2613,ORPHA:2613,6,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000321,Orphanet,2613,ORPHA:2613,6,HP:0002907,Microscopic hematuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000321,Orphanet,2613,ORPHA:2613,6,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000321,Orphanet,2613,ORPHA:2613,6,HP:0100820,Glomerulopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0000090,Nephronophthisis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0000556,Retinal dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0002612,Congenital hepatic fibrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0003774,Stage 5 chronic kidney disease,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0004348,Abnormality of bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0008209,Premature ovarian insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0010579,Cone-shaped epiphysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000322,Orphanet,3156,ORPHA:3156,16,HP:0012622,Chronic kidney disease,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000329,Orphanet,901,ORPHA:901,9,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:25846461, PMID:27357601]",y,y +GARD:0000329,Orphanet,901,ORPHA:901,9,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,"[PMID:25846461, PMID:27357601]",y,y +GARD:0000329,Orphanet,901,ORPHA:901,9,HP:0001880,Eosinophilia,Frequent (79-30%),TAS,,,,"[PMID:25846461, PMID:27357601]",y,y +GARD:0000329,Orphanet,901,ORPHA:901,9,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:25846461, PMID:27357601]",y,y +GARD:0000329,Orphanet,901,ORPHA:901,9,HP:0002633,Vasculitis,Excluded (0%),TAS,,,,"[PMID:25846461, PMID:27357601]",y,y +GARD:0000329,Orphanet,901,ORPHA:901,9,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:25846461, PMID:27357601]",y,y +GARD:0000329,Orphanet,901,ORPHA:901,9,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:25846461, PMID:27357601]",y,y +GARD:0000329,Orphanet,901,ORPHA:901,9,HP:0100658,Cellulitis,Very frequent (99-80%),TAS,,,,"[PMID:25846461, PMID:27357601]",y,y +GARD:0000329,Orphanet,901,ORPHA:901,9,HP:0200037,Skin vesicle,Frequent (79-30%),TAS,,,,"[PMID:25846461, PMID:27357601]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000047,Hypospadias,Very rare (<4-1%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000267,Cranial asymmetry,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000292,Loss of facial adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000307,Pointed chin,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000364,Hearing abnormality,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000387,Absent earlobe,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000540,Hypermetropia,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000592,Blue sclerae,Very rare (<4-1%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000598,Abnormality of the ear,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000621,Entropion,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000695,Natal tooth,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000836,Hyperthyroidism,Very rare (<4-1%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000870,Increased circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000946,Hypoplastic ilia,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000956,Acanthosis nigricans,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001043,Prominent scalp veins,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001533,Slender build,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0002345,Action tremor,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0002415,Leukodystrophy,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0002509,Limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0002684,Thickened calvaria,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0003097,Short femur,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0003413,Atlantoaxial abnormality,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0003429,CNS hypomyelination,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0003683,Large beaked nose,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0003712,Skeletal muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0003758,Reduced subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0004482,Relative macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0004492,Widely patent fontanelles and sutures,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0005164,Dysplastic pulmonary valve,Very rare (<4-1%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0005328,Progeroid facial appearance,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0005792,Short humerus,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0005978,Type II diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0006470,Thin long bone diaphyses,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0006480,Premature loss of teeth,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0007099,Chiari type I malformation,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0007766,Optic disc hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0008386,Aplasia/Hypoplasia of the nails,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0008469,Cervical vertebral dysplasia,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0008476,Irregular sclerotic endplates,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0008479,Hypoplastic vertebral bodies,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0008846,Severe intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0009003,Increased subcutaneous truncal adipose tissue,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0009059,Congenital generalized lipodystrophy,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0010511,Long toe,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0010648,Dermal translucency,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0010994,Abnormal corpus striatum morphology,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0011410,Caesarian section,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0011819,Submucous cleft soft palate,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0012811,Wide nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0025134,Increased serum estradiol,Very rare (<4-1%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0030001,Lagopthalmos,Very rare (<4-1%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0030088,Increased serum testosterone level,Very rare (<4-1%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0030265,Wide penis,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0045017,Congenital malformation of the left heart,Very rare (<4-1%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0100581,Dilatation of renal calices,Occasional (29-5%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0100678,Premature skin wrinkling,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0100769,Synovitis,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000330,Orphanet,3455,ORPHA:3455,128,HP:0100807,Long fingers,Frequent (79-30%),TAS,,,,"[PMID:10607952, PMID:17523150, PMID:18717246, PMID:19938095, PMID:21671373, PMID:25421132, PMID:26691040, PMID:28447407, PMID:319005, PMID:7262096, PMID:9152846, PMID:9664208]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000054,Micropenis,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000059,Hypoplastic labia majora,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000162,Glossoptosis,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000188,Short upper lip,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000216,Broad secondary alveolar ridge,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000331,Short chin,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000647,Sclerocornea,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000653,Sparse eyelashes,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000773,Short ribs,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0000954,Single transverse palmar crease,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001159,Syndactyly,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001302,Pachygyria,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001525,Severe failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001636,Tetralogy of Fallot,Very rare (<4-1%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001838,Rocker bottom foot,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001840,Metatarsus adductus,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0001920,Renal artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0002092,Pulmonary arterial hypertension,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0002139,Arrhinencephaly,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0002529,Neuronal loss in central nervous system,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0002696,Abnormal parietal bone morphology,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0003015,Flared metaphysis,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0004331,Decreased skull ossification,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0004993,Slender long bones with narrow diaphyses,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0005793,Shortening of all distal phalanges of the toes,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0005819,Short middle phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0005989,Redundant neck skin,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0006323,Premature loss of primary teeth,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0006628,Absent sternal ossification,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0006709,Aplasia/Hypoplasia of the nipples,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0006710,Aplasia/Hypoplasia of the clavicles,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0006713,Aplasia/Hypoplasia of the scapulae,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0007333,Hypoplasia of the frontal lobes,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0007633,Bilateral microphthalmos,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0008386,Aplasia/Hypoplasia of the nails,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0008665,Clitoral hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0008935,Generalized neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0009381,Short finger,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0009777,Absent thumb,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0009881,Aplasia of the distal phalanges of the hand,Very frequent (99-80%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0010035,Aplasia of the 1st metacarpal,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0010067,Aplasia/hypoplasia of the 1st metatarsal,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0010102,Aplasia of the distal phalanx of the hallux,Very frequent (99-80%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0010107,Short proximal phalanx of hallux,Very frequent (99-80%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0010537,Wide cranial sutures,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0010880,Increased nuchal translucency,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0011061,Abnormality of dental structure,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0012294,Abnormal occipital bone morphology,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0012809,Narrow nasal base,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0030816,Gingival recession,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0040163,Abnormal pelvis bone morphology,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000331,Orphanet,3472,ORPHA:3472,90,HP:0100817,Renovascular hypertension,Occasional (29-5%),TAS,,,,"[PMID:1533447, PMID:18203163, PMID:20932945, PMID:22044576, PMID:2319578, PMID:23623387, PMID:24610892, PMID:24658994, PMID:27292112, PMID:28635952, PMID:2918527, PMID:7395825, PMID:8411078]",y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000048,Bifid scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000189,Narrow palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000262,Turricephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000364,Hearing abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000391,Thickened helices,Occasional (29-5%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000453,Choanal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000956,Acanthosis nigricans,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0001545,Anteriorly placed anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0001732,Abnormality of the pancreas,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0002676,Cloverleaf skull,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0003246,Prominent scrotal raphe,Frequent (79-30%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0004450,Preauricular skin furrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0007469,Palmoplantar cutis gyrata,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0009906,Aplasia/Hypoplasia of the earlobes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000332,Orphanet,1555,ORPHA:1555,44,HP:0100761,Visceral angiomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0000075,Renal duplication,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0000204,Cleft upper lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0000509,Conjunctivitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0000656,Ectropion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0001581,Recurrent skin infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0001970,Tubulointerstitial nephritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0002619,Varicose veins,Frequent (79-30%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0003550,Predominantly lower limb lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0004930,Abnormality of the pulmonary vasculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0009743,Distichiasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0009745,Spinal arachnoid cyst,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0100244,Fibrosarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0100820,Glomerulopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000333,Orphanet,33001,ORPHA:33001,26,HP:0200020,Corneal erosion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000334,Orphanet,41,ORPHA:41,4,HP:0001304,Torsion dystonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000334,Orphanet,41,ORPHA:41,4,HP:0007988,Macular hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000334,Orphanet,41,ORPHA:41,4,HP:0011509,Macular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000334,Orphanet,41,ORPHA:41,4,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000336,Orphanet,101003,ORPHA:101003,14,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:12868479, PMID:28157540]",y,y +GARD:0000336,Orphanet,101003,ORPHA:101003,14,HP:0001003,Multiple lentigines,Frequent (79-30%),TAS,,,,"[PMID:12868479, PMID:28157540]",y,y +GARD:0000336,Orphanet,101003,ORPHA:101003,14,HP:0001045,Vitiligo,Frequent (79-30%),TAS,,,,"[PMID:12868479, PMID:28157540]",y,y +GARD:0000336,Orphanet,101003,ORPHA:101003,14,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:12868479, PMID:28157540]",y,y +GARD:0000336,Orphanet,101003,ORPHA:101003,14,HP:0001258,Spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:12868479, PMID:28157540]",y,y +GARD:0000336,Orphanet,101003,ORPHA:101003,14,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:12868479, PMID:28157540]",y,y +GARD:0000336,Orphanet,101003,ORPHA:101003,14,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:12868479, PMID:28157540]",y,y +GARD:0000336,Orphanet,101003,ORPHA:101003,14,HP:0002218,Silver-gray hair,Occasional (29-5%),TAS,,,,"[PMID:12868479, PMID:28157540]",y,y +GARD:0000336,Orphanet,101003,ORPHA:101003,14,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:12868479, PMID:28157540]",y,y +GARD:0000336,Orphanet,101003,ORPHA:101003,14,HP:0002607,Bowel incontinence,Frequent (79-30%),TAS,,,,"[PMID:12868479, PMID:28157540]",y,y +GARD:0000336,Orphanet,101003,ORPHA:101003,14,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:12868479, PMID:28157540]",y,y +GARD:0000336,Orphanet,101003,ORPHA:101003,14,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:12868479, PMID:28157540]",y,y +GARD:0000336,Orphanet,101003,ORPHA:101003,14,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:12868479, PMID:28157540]",y,y +GARD:0000336,Orphanet,101003,ORPHA:101003,14,HP:0012701,Bowel urgency,Frequent (79-30%),TAS,,,,"[PMID:12868479, PMID:28157540]",y,y +GARD:0000341,Orphanet,3471,ORPHA:3471,5,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000341,Orphanet,3471,ORPHA:3471,5,HP:0001732,Abnormality of the pancreas,Frequent (79-30%),TAS,,,,,y,y +GARD:0000341,Orphanet,3471,ORPHA:3471,5,HP:0002837,Recurrent bronchitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000341,Orphanet,3471,ORPHA:3471,5,HP:0005425,Recurrent sinopulmonary infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000341,Orphanet,3471,ORPHA:3471,5,HP:0011962,Obstructive azoospermia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000343,Orphanet,166063,ORPHA:166063,14,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:20952379, PMID:20956791, PMID:21824568]",y,y +GARD:0000343,Orphanet,166063,ORPHA:166063,14,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:20952379, PMID:20956791, PMID:21824568]",y,y +GARD:0000343,Orphanet,166063,ORPHA:166063,14,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:20952379, PMID:20956791, PMID:21824568]",y,y +GARD:0000343,Orphanet,166063,ORPHA:166063,14,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:20952379, PMID:20956791, PMID:21824568]",y,y +GARD:0000343,Orphanet,166063,ORPHA:166063,14,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:20952379, PMID:20956791, PMID:21824568]",y,y +GARD:0000343,Orphanet,166063,ORPHA:166063,14,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:20952379, PMID:20956791, PMID:21824568]",y,y +GARD:0000343,Orphanet,166063,ORPHA:166063,14,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:20952379, PMID:20956791, PMID:21824568]",y,y +GARD:0000343,Orphanet,166063,ORPHA:166063,14,HP:0002365,Hypoplasia of the brainstem,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:20952379, PMID:20956791, PMID:21824568]",y,y +GARD:0000343,Orphanet,166063,ORPHA:166063,14,HP:0002804,Arthrogryposis multiplex congenita,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:20952379, PMID:20956791, PMID:21824568]",y,y +GARD:0000343,Orphanet,166063,ORPHA:166063,14,HP:0002871,Central apnea,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:20952379, PMID:20956791, PMID:21824568]",y,y +GARD:0000343,Orphanet,166063,ORPHA:166063,14,HP:0004887,Respiratory failure requiring assisted ventilation,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:20952379, PMID:20956791, PMID:21824568]",y,y +GARD:0000343,Orphanet,166063,ORPHA:166063,14,HP:0006955,Olivopontocerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:20952379, PMID:20956791, PMID:21824568]",y,y +GARD:0000343,Orphanet,166063,ORPHA:166063,14,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301773, PMID:20952379, PMID:20956791, PMID:21824568]",y,y +GARD:0000343,Orphanet,166063,ORPHA:166063,14,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,"[PMID:20301773, PMID:20952379, PMID:20956791, PMID:21824568]",y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0000835,Adrenal hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0001360,Holoprosencephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0002101,Abnormal lung lobation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0005990,Thyroid hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0009914,Cyclopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0010650,Hypoplasia of the premaxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0000344,Orphanet,2166,ORPHA:2166,36,HP:0100596,Absent nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0000992,Cutaneous photosensitivity,Occasional (29-5%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0004299,Hernia of the abdominal wall,Occasional (29-5%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0008064,Ichthyosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000345,Orphanet,3055,ORPHA:3055,18,HP:0010468,Aplasia/Hypoplasia of the testes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0001881,Abnormal leukocyte morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0001928,Abnormality of coagulation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0002216,Premature graying of hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0002745,Oral leukoplakia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0004334,Dermal atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0007392,Excessive wrinkled skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0007440,Generalized hyperpigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000346,Orphanet,3322,ORPHA:3322,28,HP:0011358,Generalized hypopigmentation of hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0000073,Ureteral duplication,Very rare (<4-1%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0000776,Congenital diaphragmatic hernia,Very rare (<4-1%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0000851,Congenital hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0000857,Neonatal insulin-dependent diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0000891,Cervical ribs,Very rare (<4-1%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001195,Single umbilical artery,Very rare (<4-1%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001537,Umbilical hernia,Very rare (<4-1%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001631,Atrial septal defect,Very frequent (99-80%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001655,Patent foramen ovale,Very frequent (99-80%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001669,Transposition of the great arteries,Occasional (29-5%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0001738,Exocrine pancreatic insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0002254,Intermittent diarrhea,Frequent (79-30%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0002566,Intestinal malrotation,Very rare (<4-1%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0002594,Pancreatic hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0003645,Prolonged partial thromboplastin time,Occasional (29-5%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0004415,Pulmonary artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0004762,Hypoplasia of right ventricle,Occasional (29-5%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0005912,Biliary atresia,Very rare (<4-1%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0010626,Anterior pituitary agenesis,Very rare (<4-1%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0011466,Aplasia/Hypoplasia of the gallbladder,Very rare (<4-1%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0011573,Hypoplastic tricuspid valve,Occasional (29-5%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0011581,Double outlet left ventricle,Occasional (29-5%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0011611,Interrupted aortic arch,Very rare (<4-1%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0011628,Congenital defect of the pericardium,Very rare (<4-1%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0040196,Mild microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000347,Orphanet,2255,ORPHA:2255,40,HP:0100801,Pancreatic aplasia,Frequent (79-30%),TAS,,,,"[PMID:20082465, PMID:22158542, PMID:22962692, PMID:23639568, PMID:24310933, PMID:8071961]",y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0000689,Dental malocclusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0001385,Hip dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0002866,Hypoplastic iliac wing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0003212,Increased circulating IgE level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000350,Orphanet,1858,ORPHA:1858,15,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000351,Orphanet,1562,ORPHA:1562,4,HP:0000620,Dacryocystitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000351,Orphanet,1562,ORPHA:1562,4,HP:0000632,Lacrimation abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000351,Orphanet,1562,ORPHA:1562,4,HP:0010739,Osteopoikilosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000351,Orphanet,1562,ORPHA:1562,4,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0001757,High-frequency sensorineural hearing impairment,Occasional (29-5%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0004482,Relative macrocephaly,Frequent (79-30%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0004691,2-3 toe syndactyly,Occasional (29-5%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,[PMID:1415349],y,y +GARD:0000354,Orphanet,2324,ORPHA:2324,22,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,[PMID:1415349],y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0000176,Submucous cleft hard palate,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0001061,Acne,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0001137,Alternating esotropia,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0001761,Pes cavus,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0001840,Metatarsus adductus,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0002069,Bilateral tonic-clonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0002967,Cubitus valgus,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0002986,Radial bowing,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0003022,Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0006293,Agenesis of maxillary central incisor,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0010809,Broad uvula,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0012385,Camptodactyly,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0030084,Clinodactyly,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0100037,Abnormality of the scalp hair,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000358,Orphanet,2804,ORPHA:2804,25,HP:0100268,Upper lip pit,Very frequent (99-80%),TAS,,,,"[PMID:10594887, PMID:8287184]",y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000269,Prominent occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000679,Taurodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000691,Microdontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000940,Abnormal diaphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0008499,High hypermetropia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000359,Orphanet,1515,ORPHA:1515,30,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0000589,Coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0001831,Short toe,Occasional (29-5%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0008743,Coronal hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0009465,Ulnar deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0010751,Dimple chin,Occasional (29-5%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000360,Orphanet,921,ORPHA:921,24,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0000361,Orphanet,945,ORPHA:945,14,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000361,Orphanet,945,ORPHA:945,14,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000361,Orphanet,945,ORPHA:945,14,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000361,Orphanet,945,ORPHA:945,14,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000361,Orphanet,945,ORPHA:945,14,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000361,Orphanet,945,ORPHA:945,14,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000361,Orphanet,945,ORPHA:945,14,HP:0001362,Calvarial skull defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0000361,Orphanet,945,ORPHA:945,14,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0000361,Orphanet,945,ORPHA:945,14,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0000361,Orphanet,945,ORPHA:945,14,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000361,Orphanet,945,ORPHA:945,14,HP:0002269,Abnormality of neuronal migration,Frequent (79-30%),TAS,,,,,y,y +GARD:0000361,Orphanet,945,ORPHA:945,14,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,,y,y +GARD:0000361,Orphanet,945,ORPHA:945,14,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000361,Orphanet,945,ORPHA:945,14,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0000155,Oral ulcer,Frequent (79-30%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0000166,Severe periodontitis,Occasional (29-5%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0000230,Gingivitis,Occasional (29-5%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0001045,Vitiligo,Very rare (<4-1%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0001300,Parkinsonism,Very rare (<4-1%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0001935,Microcytic anemia,Occasional (29-5%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0002634,Arteriosclerosis,Very rare (<4-1%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0006357,Premature loss of permanent teeth,Very rare (<4-1%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0012517,Reduced catalase level,Very frequent (99-80%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0012531,Pain,Very rare (<4-1%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0040113,Old-aged sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0100605,Neoplasm of the larynx,Very rare (<4-1%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0100651,Type I diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0100753,Schizophrenia,Very rare (<4-1%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000363,Orphanet,926,ORPHA:926,17,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,"[PMID:11117918, PMID:11500062, PMID:1999334, PMID:24025477, PMID:24522161, PMID:25772105]",y,y +GARD:0000364,Orphanet,1134,ORPHA:1134,12,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:27386828],y,y +GARD:0000364,Orphanet,1134,ORPHA:1134,12,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,[PMID:27386828],y,y +GARD:0000364,Orphanet,1134,ORPHA:1134,12,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,[PMID:27386828],y,y +GARD:0000364,Orphanet,1134,ORPHA:1134,12,HP:0000625,Eyelid coloboma,Frequent (79-30%),TAS,,,,[PMID:27386828],y,y +GARD:0000364,Orphanet,1134,ORPHA:1134,12,HP:0002006,Facial cleft,Frequent (79-30%),TAS,,,,[PMID:27386828],y,y +GARD:0000364,Orphanet,1134,ORPHA:1134,12,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,[PMID:27386828],y,y +GARD:0000364,Orphanet,1134,ORPHA:1134,12,HP:0004122,Midline defect of the nose,Frequent (79-30%),TAS,,,,[PMID:27386828],y,y +GARD:0000364,Orphanet,1134,ORPHA:1134,12,HP:0004646,Hypoplasia of the nasal bone,Frequent (79-30%),TAS,,,,[PMID:27386828],y,y +GARD:0000364,Orphanet,1134,ORPHA:1134,12,HP:0005273,Absent nasal septal cartilage,Frequent (79-30%),TAS,,,,[PMID:27386828],y,y +GARD:0000364,Orphanet,1134,ORPHA:1134,12,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,[PMID:27386828],y,y +GARD:0000364,Orphanet,1134,ORPHA:1134,12,HP:0009927,Aplasia of the nose,Occasional (29-5%),TAS,,,,[PMID:27386828],y,y +GARD:0000364,Orphanet,1134,ORPHA:1134,12,HP:0009935,Aplasia/Hypoplasia of the nasal septum,Frequent (79-30%),TAS,,,,[PMID:27386828],y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0000061,"Ambiguous genitalia, female",Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0000855,Insulin resistance,Frequent (79-30%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0000956,Acanthosis nigricans,Frequent (79-30%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0002050,"Macroorchidism, postpubertal",Frequent (79-30%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0002663,Delayed epiphyseal ossification,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0003077,Hyperlipidemia,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0003251,Male infertility,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0003782,Eunuchoid habitus,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0005978,Type II diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0008072,Maternal virilization in pregnancy,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0008222,Female infertility,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0008675,Enlarged polycystic ovaries,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000365,Orphanet,91,ORPHA:91,26,HP:0010458,Female pseudohermaphroditism,Very frequent (99-80%),TAS,,,,"[PMID:130074, PMID:1371509, PMID:14715828, PMID:162557, PMID:1825497, PMID:8530621]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0000375,Abnormal cochlea morphology,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0000381,Stapes ankylosis,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0000532,Abnormal chorioretinal morphology,Very frequent (99-80%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0000830,Anterior hypopituitarism,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0000863,Central diabetes insipidus,Excluded (0%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0001139,Choroideremia,Very frequent (99-80%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0001920,Renal artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0002075,Dysdiadochokinesis,Occasional (29-5%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0003484,Upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0004458,Dilatated internal auditory canal,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0005109,Abnormality of the Achilles tendon,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0007675,Progressive night blindness,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0007937,Reticular pigmentary degeneration,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0007994,Peripheral visual field loss,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0008619,Bilateral sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0010625,Anterior pituitary dysgenesis,Excluded (0%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0011448,Ankle clonus,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0011748,Adrenocorticotropic hormone deficiency,Excluded (0%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0030532,Visual acuity test abnormality,Frequent (79-30%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000369,Orphanet,1435,ORPHA:1435,39,HP:0200065,Chorioretinal degeneration,Very frequent (99-80%),TAS,,,,"[PMID:17339581, PMID:22037486, PMID:26175800, PMID:2624260, PMID:7825582]",y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0001012,Multiple lipomas,Frequent (79-30%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0001080,Biliary tract abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0003077,Hyperlipidemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0003110,Abnormality of urine homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0006566,Neonatal cholestatic liver disease,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0011985,Acholic stools,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000370,Orphanet,1414,ORPHA:1414,20,HP:0100763,Abnormality of the lymphatic system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0000289,Broad philtrum,Occasional (29-5%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0000473,Torticollis,Occasional (29-5%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0000685,Hypoplasia of teeth,Occasional (29-5%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0001216,Delayed ossification of carpal bones,Very frequent (99-80%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0001792,Small nail,Occasional (29-5%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0007477,Abnormal dermatoglyphics,Occasional (29-5%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0012450,Chronic constipation,Very frequent (99-80%),TAS,,,,[PMID:8064821],y,y +GARD:0000371,Orphanet,3010,ORPHA:3010,23,HP:0200000,Dysharmonic bone age,Very frequent (99-80%),TAS,,,,[PMID:8064821],y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0000465,Webbed neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0001639,Hypertrophic cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0001642,Pulmonic stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0003010,Prolonged bleeding time,Frequent (79-30%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0007565,Multiple cafe-au-lait spots,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0009023,Abdominal wall muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0011039,Abnormal helix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000372,Orphanet,638,ORPHA:638,18,HP:0100763,Abnormality of the lymphatic system,Frequent (79-30%),TAS,,,,,y,y +GARD:0000373,Orphanet,346,ORPHA:346,7,HP:0001581,Recurrent skin infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000373,Orphanet,346,ORPHA:346,7,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000373,Orphanet,346,ORPHA:346,7,HP:0002232,Patchy alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000373,Orphanet,346,ORPHA:346,7,HP:0004552,Scarring alopecia of scalp,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000373,Orphanet,346,ORPHA:346,7,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000373,Orphanet,346,ORPHA:346,7,HP:0100699,Scarring,Frequent (79-30%),TAS,,,,,y,y +GARD:0000373,Orphanet,346,ORPHA:346,7,HP:0200039,Pustule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0000271,Abnormality of the face,Occasional (29-5%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0000336,Prominent supraorbital ridges,Occasional (29-5%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0002164,Nail dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0010669,Hypoplasia of the zygomatic bone,Occasional (29-5%),TAS,,,,,y,y +GARD:0000374,Orphanet,2835,ORPHA:2835,15,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000069,Abnormality of the ureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000204,Cleft upper lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000674,Anodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000968,Ectodermal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0000972,Palmoplantar hyperkeratosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0001810,Dystrophic toenail,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0002744,Bilateral cleft lip and palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0003777,Pili torti,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0005338,Sparse lateral eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0007477,Abnormal dermatoglyphics,Occasional (29-5%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0008391,Dystrophic fingernails,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0010669,Hypoplasia of the zygomatic bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000375,Orphanet,3253,ORPHA:3253,42,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000376,Orphanet,931,ORPHA:931,8,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000376,Orphanet,931,ORPHA:931,8,HP:0002990,Fibular aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000376,Orphanet,931,ORPHA:931,8,HP:0003974,Absent radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000376,Orphanet,931,ORPHA:931,8,HP:0003982,Aplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000376,Orphanet,931,ORPHA:931,8,HP:0004050,Absent hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000376,Orphanet,931,ORPHA:931,8,HP:0005792,Short humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000376,Orphanet,931,ORPHA:931,8,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000376,Orphanet,931,ORPHA:931,8,HP:0009813,Upper limb phocomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000377,Orphanet,973,ORPHA:973,5,HP:0001799,Short nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000377,Orphanet,973,ORPHA:973,5,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000377,Orphanet,973,ORPHA:973,5,HP:0009778,Short thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000377,Orphanet,973,ORPHA:973,5,HP:0009988,Duplication of the distal phalanx of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000377,Orphanet,973,ORPHA:973,5,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000458,Anosmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000561,Absent eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0002223,Absent eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0007565,Multiple cafe-au-lait spots,Occasional (29-5%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000378,Orphanet,2316,ORPHA:2316,27,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000379,Orphanet,3033,ORPHA:3033,13,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000379,Orphanet,3033,ORPHA:3033,13,HP:0000114,Proximal tubulopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000379,Orphanet,3033,ORPHA:3033,13,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000379,Orphanet,3033,ORPHA:3033,13,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000379,Orphanet,3033,ORPHA:3033,13,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000379,Orphanet,3033,ORPHA:3033,13,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0000379,Orphanet,3033,ORPHA:3033,13,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000379,Orphanet,3033,ORPHA:3033,13,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0000379,Orphanet,3033,ORPHA:3033,13,HP:0002089,Pulmonary hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000379,Orphanet,3033,ORPHA:3033,13,HP:0005562,Multiple renal cysts,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000379,Orphanet,3033,ORPHA:3033,13,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000379,Orphanet,3033,ORPHA:3033,13,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,,y,y +GARD:0000379,Orphanet,3033,ORPHA:3033,13,HP:0008660,Renotubular dysgenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0000541,Retinal detachment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0000608,Macular degeneration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0001083,Ectopia lentis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0001362,Calvarial skull defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0001595,Abnormal hair morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0001651,Dextrocardia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0002085,Occipital encephalocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0004327,Abnormal vitreous humor morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0007773,Vitreoretinopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0030037,Bifid ureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0000380,Orphanet,1571,ORPHA:1571,26,HP:0100764,Lymphangioma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,[PMID:8533819],y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:8533819],y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:8533819],y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0000586,Shallow orbits,Frequent (79-30%),TAS,,,,[PMID:8533819],y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,[PMID:8533819],y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:8533819],y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:8533819],y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:8533819],y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,[PMID:8533819],y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,[PMID:8533819],y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,[PMID:8533819],y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0010539,Thin calvarium,Frequent (79-30%),TAS,,,,[PMID:8533819],y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0010565,Aplasia/Hypoplasia of the Epiglottis,Frequent (79-30%),TAS,,,,[PMID:8533819],y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,[PMID:8533819],y,y +GARD:0000381,Orphanet,1129,ORPHA:1129,15,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,[PMID:8533819],y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0001881,Abnormal leukocyte morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0002754,Osteomyelitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0002758,Osteoarthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0005789,Generalized osteosclerosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0007626,Mandibular osteomyelitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0010628,Facial palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000383,Orphanet,53,ORPHA:53,29,HP:0010885,Avascular necrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0000271,Abnormality of the face,Occasional (29-5%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0000579,Nasolacrimal duct obstruction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0001480,Freckling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0001803,Nail pits,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0001839,Split foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0002557,Hypoplastic nipples,Frequent (79-30%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0002561,Absent nipple,Frequent (79-30%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0003187,Breast hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0100797,Toenail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0100798,Fingernail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000384,Orphanet,978,ORPHA:978,24,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000169,Gingival fibromatosis,Obligate (100%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000811,Abnormal external genitalia,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0000977,Soft skin,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0001804,Hypoplastic fingernail,Frequent (79-30%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0001817,Absent fingernail,Frequent (79-30%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0001869,Deep plantar creases,Very rare (<4-1%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0002219,Facial hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0002265,Large fleshy ears,Frequent (79-30%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0004554,Generalized hypertrichosis,Frequent (79-30%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0006191,Deep palmar crease,Very rare (<4-1%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0006391,Overtubulated long bones,Very rare (<4-1%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0007440,Generalized hyperpigmentation,Very rare (<4-1%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0009102,Anterior open-bite malocclusion,Frequent (79-30%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0009894,Thickened ears,Frequent (79-30%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000385,Orphanet,3473,ORPHA:3473,43,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:23994350, PMID:26818898, PMID:27282200]",y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0000148,Vaginal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0000202,Oral cleft,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0000921,Missing ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0001600,Abnormality of the larynx,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0002101,Abnormal lung lobation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0002777,Tracheal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0003057,Tetraamelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0006709,Aplasia/Hypoplasia of the nipples,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0009103,Aplasia/Hypoplasia involving the pelvis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0009924,Aplasia/Hypoplasia involving the nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0100569,Abnormally ossified vertebrae,Frequent (79-30%),TAS,,,,,y,y +GARD:0000386,Orphanet,3301,ORPHA:3301,28,HP:0100842,Septo-optic dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0001890,Autoimmune hemolytic anemia,Very rare (<4-1%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0001973,Autoimmune thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0002028,Chronic diarrhea,Frequent (79-30%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0002583,Colitis,Occasional (29-5%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0002665,Lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0002718,Recurrent bacterial infections,Very frequent (99-80%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0002728,Chronic mucocutaneous candidiasis,Occasional (29-5%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0002733,Abnormality of the lymph nodes,Occasional (29-5%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0002840,Lymphadenitis,Occasional (29-5%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0004429,Recurrent viral infections,Very frequent (99-80%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0004798,Recurrent infection of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0005390,Recurrent opportunistic infections,Very frequent (99-80%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0005406,Recurrent bacterial skin infections,Occasional (29-5%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0005415,Decreased proportion of CD8-positive T cells,Frequent (79-30%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0005422,Absence of CD8-positive T cells,Frequent (79-30%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0005523,Lymphoproliferative disorder,Very rare (<4-1%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0009098,Chronic oral candidiasis,Frequent (79-30%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0010280,Stomatitis,Occasional (29-5%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0011274,Recurrent mycobacterial infections,Occasional (29-5%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0031381,Decreased lymphocyte proliferation in response to mitogen,Very frequent (99-80%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0100827,Lymphocytosis,Occasional (29-5%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000387,Orphanet,911,ORPHA:911,30,HP:0200117,Recurrent upper and lower respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:11412303, PMID:1333922, PMID:20301777, PMID:2511270, PMID:30778343]",y,y +GARD:0000390,Orphanet,2790,ORPHA:2790,13,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000390,Orphanet,2790,ORPHA:2790,13,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000390,Orphanet,2790,ORPHA:2790,13,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000390,Orphanet,2790,ORPHA:2790,13,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000390,Orphanet,2790,ORPHA:2790,13,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000390,Orphanet,2790,ORPHA:2790,13,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000390,Orphanet,2790,ORPHA:2790,13,HP:0004493,Craniofacial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000390,Orphanet,2790,ORPHA:2790,13,HP:0005019,Diaphyseal thickening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000390,Orphanet,2790,ORPHA:2790,13,HP:0005789,Generalized osteosclerosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000390,Orphanet,2790,ORPHA:2790,13,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000390,Orphanet,2790,ORPHA:2790,13,HP:0100789,Torus palatinus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000390,Orphanet,2790,ORPHA:2790,13,HP:0100861,Sclerotic vertebral body,Frequent (79-30%),TAS,,,,,y,y +GARD:0000390,Orphanet,2790,ORPHA:2790,13,HP:0100923,Clavicular sclerosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000391,Orphanet,2777,ORPHA:2777,7,HP:0001939,Abnormality of metabolism/homeostasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000391,Orphanet,2777,ORPHA:2777,7,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000391,Orphanet,2777,ORPHA:2777,7,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000391,Orphanet,2777,ORPHA:2777,7,HP:0003103,Abnormal cortical bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000391,Orphanet,2777,ORPHA:2777,7,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000391,Orphanet,2777,ORPHA:2777,7,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000391,Orphanet,2777,ORPHA:2777,7,HP:0100861,Sclerotic vertebral body,Frequent (79-30%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0000288,Abnormality of the philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0002974,Radioulnar synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000394,Orphanet,3268,ORPHA:3268,19,HP:0009811,Abnormality of the elbow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000395,Orphanet,1574,ORPHA:1574,7,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000395,Orphanet,1574,ORPHA:1574,7,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000395,Orphanet,1574,ORPHA:1574,7,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000395,Orphanet,1574,ORPHA:1574,7,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000395,Orphanet,1574,ORPHA:1574,7,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000395,Orphanet,1574,ORPHA:1574,7,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000395,Orphanet,1574,ORPHA:1574,7,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0000155,Oral ulcer,Occasional (29-5%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0000388,Otitis media,Very rare (<4-1%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0000509,Conjunctivitis,Very rare (<4-1%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0000708,Behavioral abnormality,Very rare (<4-1%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0001287,Meningitis,Very rare (<4-1%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0001289,Confusion,Very rare (<4-1%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0002113,Pulmonary infiltrates,Occasional (29-5%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0011355,Localized skin lesion,Occasional (29-5%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0012219,Erythema nodosum,Very rare (<4-1%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0025143,Chills,Frequent (79-30%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0025289,Cervical lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0025406,Asthenia,Frequent (79-30%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0025439,Pharyngitis,Occasional (29-5%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0030049,Brain abscess,Very rare (<4-1%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0030833,Neck pain,Occasional (29-5%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0030953,Conjunctival hyperemia,Very rare (<4-1%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0031292,Cutaneous abscess,Very rare (<4-1%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0031983,Abnormal pulmonary thoracic imaging finding,Occasional (29-5%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0100533,Inflammatory abnormality of the eye,Very rare (<4-1%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0100721,Mediastinal lymphadenopathy,Very rare (<4-1%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:0200026,Ocular pain,Very rare (<4-1%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000396,Orphanet,3392,ORPHA:3392,38,HP:3000033,Abnormal nasopharyngeal adenoid morphology,Very rare (<4-1%),TAS,,,,"[PMID:22911645, PMID:26738841]",y,y +GARD:0000399,Orphanet,393,ORPHA:393,4,HP:0000026,Male hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000399,Orphanet,393,ORPHA:393,4,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000399,Orphanet,393,ORPHA:393,4,HP:0000147,Polycystic ovaries,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000399,Orphanet,393,ORPHA:393,4,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000141,Amenorrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000563,Keratoconus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000653,Sparse eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000798,Oligospermia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000889,Abnormal clavicle morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000944,Abnormality of the metaphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0001028,Hemangioma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0001555,Asymmetry of the thorax,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0002234,Early balding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0002621,Atherosclerosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0002644,Abnormality of pelvic girdle bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0004331,Decreased skull ossification,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0009891,Underdeveloped supraorbital ridges,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0009928,Thick nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0010609,Skin tags,Frequent (79-30%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0100540,Palpebral edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0100607,Dysmenorrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0000400,Orphanet,2067,ORPHA:2067,54,HP:0100659,Abnormal cerebral vascular morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000404,Orphanet,2786,ORPHA:2786,12,HP:0000479,Abnormal retinal morphology,Very frequent (99-80%),TAS,,,,[PMID:8721572],y,y +GARD:0000404,Orphanet,2786,ORPHA:2786,12,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,[PMID:8721572],y,y +GARD:0000404,Orphanet,2786,ORPHA:2786,12,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,[PMID:8721572],y,y +GARD:0000404,Orphanet,2786,ORPHA:2786,12,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,[PMID:8721572],y,y +GARD:0000404,Orphanet,2786,ORPHA:2786,12,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,[PMID:8721572],y,y +GARD:0000404,Orphanet,2786,ORPHA:2786,12,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,[PMID:8721572],y,y +GARD:0000404,Orphanet,2786,ORPHA:2786,12,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,[PMID:8721572],y,y +GARD:0000404,Orphanet,2786,ORPHA:2786,12,HP:0001010,Hypopigmentation of the skin,Very frequent (99-80%),TAS,,,,[PMID:8721572],y,y +GARD:0000404,Orphanet,2786,ORPHA:2786,12,HP:0001022,Albinism,Very frequent (99-80%),TAS,,,,[PMID:8721572],y,y +GARD:0000404,Orphanet,2786,ORPHA:2786,12,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,[PMID:8721572],y,y +GARD:0000404,Orphanet,2786,ORPHA:2786,12,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:8721572],y,y +GARD:0000404,Orphanet,2786,ORPHA:2786,12,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,[PMID:8721572],y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0001061,Acne,Occasional (29-5%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0001080,Biliary tract abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0001682,Subvalvular aortic stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0003119,Abnormal circulating lipid concentration,Occasional (29-5%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0005048,Synostosis of carpal bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0005174,Membranous subvalvular aortic stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0008777,Abnormal vocal cord morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000405,Orphanet,3191,ORPHA:3191,26,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000406,Orphanet,2253,ORPHA:2253,7,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000406,Orphanet,2253,ORPHA:2253,7,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000406,Orphanet,2253,ORPHA:2253,7,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000406,Orphanet,2253,ORPHA:2253,7,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000406,Orphanet,2253,ORPHA:2253,7,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000406,Orphanet,2253,ORPHA:2253,7,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000406,Orphanet,2253,ORPHA:2253,7,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0000366,Abnormality of the nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0001107,Ocular albinism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0007400,Irregular hyperpigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000407,Orphanet,999,ORPHA:999,16,HP:0007730,Iris hypopigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000409,Orphanet,2798,ORPHA:2798,4,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000409,Orphanet,2798,ORPHA:2798,4,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000409,Orphanet,2798,ORPHA:2798,4,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000409,Orphanet,2798,ORPHA:2798,4,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0000829,Hypoparathyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0002905,Hyperphosphatemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0003416,Spinal canal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0005374,Cellular immunodeficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0005686,Patchy osteosclerosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0008198,Congenital hypoparathyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0008572,External ear malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0008846,Severe intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000411,Orphanet,2323,ORPHA:2323,36,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000412,Orphanet,1221,ORPHA:1221,5,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000412,Orphanet,1221,ORPHA:1221,5,HP:0002664,Neoplasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000412,Orphanet,1221,ORPHA:1221,5,HP:0002860,Squamous cell carcinoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000412,Orphanet,1221,ORPHA:1221,5,HP:0010286,Abnormal salivary gland morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000412,Orphanet,1221,ORPHA:1221,5,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0002953,Vertebral compression fracture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0004568,Beaking of vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0004586,Biconcave vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0007495,Prematurely aged appearance,Occasional (29-5%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0011849,Abnormal bone ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000413,Orphanet,2078,ORPHA:2078,30,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000414,Orphanet,1226,ORPHA:1226,8,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000414,Orphanet,1226,ORPHA:1226,8,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000414,Orphanet,1226,ORPHA:1226,8,HP:0000453,Choanal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000414,Orphanet,1226,ORPHA:1226,8,HP:0000851,Congenital hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000414,Orphanet,1226,ORPHA:1226,8,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000414,Orphanet,1226,ORPHA:1226,8,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000414,Orphanet,1226,ORPHA:1226,8,HP:0008191,Thyroid agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000414,Orphanet,1226,ORPHA:1226,8,HP:0011362,Abnormal hair quantity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0000320,Bird-like facies,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0000561,Absent eyelashes,Obligate (100%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0001249,Intellectual disability,Obligate (100%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0002223,Absent eyebrow,Obligate (100%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0002478,Progressive spastic quadriplegia,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0004325,Decreased body weight,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0004423,Cranium bifidum occultum,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0009745,Spinal arachnoid cyst,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0011832,Narrow nasal tip,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000415,Orphanet,2985,ORPHA:2985,20,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,[PMID:4418946],y,y +GARD:0000418,Orphanet,2843,ORPHA:2843,3,HP:0011013,Abnormal circulating carbohydrate concentration,Frequent (79-30%),TAS,,,,"[PMID:18850300, PMID:22042873]",y,y +GARD:0000418,Orphanet,2843,ORPHA:2843,3,HP:0011021,Abnormality of circulating enzyme level,Very frequent (99-80%),TAS,,,,"[PMID:18850300, PMID:22042873]",y,y +GARD:0000418,Orphanet,2843,ORPHA:2843,3,HP:0031979,Abnormal urine carbohydrate level,Very frequent (99-80%),TAS,,,,"[PMID:18850300, PMID:22042873]",y,y +GARD:0000424,Orphanet,3469,ORPHA:3469,12,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000424,Orphanet,3469,ORPHA:3469,12,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000424,Orphanet,3469,ORPHA:3469,12,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000424,Orphanet,3469,ORPHA:3469,12,HP:0000600,Abnormality of the pharynx,Frequent (79-30%),TAS,,,,,y,y +GARD:0000424,Orphanet,3469,ORPHA:3469,12,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000424,Orphanet,3469,ORPHA:3469,12,HP:0000811,Abnormal external genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000424,Orphanet,3469,ORPHA:3469,12,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0000424,Orphanet,3469,ORPHA:3469,12,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000424,Orphanet,3469,ORPHA:3469,12,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000424,Orphanet,3469,ORPHA:3469,12,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000424,Orphanet,3469,ORPHA:3469,12,HP:0005288,Abnormality of the nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0000424,Orphanet,3469,ORPHA:3469,12,HP:0045009,Abnormal morphology of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0000329,Facial hemangioma,Occasional (29-5%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0000967,Petechiae,Occasional (29-5%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0000998,Hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0005548,Megakaryocytopenia,Occasional (29-5%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0010990,Abnormality of the common coagulation pathway,Occasional (29-5%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0011355,Localized skin lesion,Frequent (79-30%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0011900,Hypofibrinogenemia,Occasional (29-5%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000425,Orphanet,1063,ORPHA:1063,16,HP:0031490,Hemangioma of the lip,Occasional (29-5%),TAS,,,,"[PMID:12752572, PMID:25436158, PMID:26844334, PMID:29166525, PMID:30318642]",y,y +GARD:0000427,Orphanet,2997,ORPHA:2997,6,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000427,Orphanet,2997,ORPHA:2997,6,HP:0001601,Laryngomalacia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000427,Orphanet,2997,ORPHA:2997,6,HP:0001611,Nasal speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000427,Orphanet,2997,ORPHA:2997,6,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000427,Orphanet,2997,ORPHA:2997,6,HP:0002301,Hemiplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000427,Orphanet,2997,ORPHA:2997,6,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0000136,Bifid uterus,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0000200,Short lingual frenulum,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0001159,Syndactyly,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0001464,Aplasia/Hypoplasia involving the shoulder musculature,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0001540,Diastasis recti,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0002558,Supernumerary nipple,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0004112,Midline nasal groove,Very frequent (99-80%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0006008,Unilateral brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0006709,Aplasia/Hypoplasia of the nipples,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0009116,Aplasia/Hypoplasia involving bones of the skull,Very frequent (99-80%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0009930,Asymmetry of the nares,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0011959,Unilateral hypoplasia of pectoralis major muscle,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0012243,Abnormal reproductive system morphology,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0030867,Vertical orbital dystopia,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000428,Orphanet,1521,ORPHA:1521,26,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,"[PMID:2225532, PMID:7747768, PMID:9240748]",y,y +GARD:0000431,Orphanet,83463,ORPHA:83463,8,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,"[PMID:17764079, PMID:19759387, PMID:22106030]",y,y +GARD:0000431,Orphanet,83463,ORPHA:83463,8,HP:0000413,Atresia of the external auditory canal,Frequent (79-30%),TAS,,,,"[PMID:17764079, PMID:19759387, PMID:22106030]",y,y +GARD:0000431,Orphanet,83463,ORPHA:83463,8,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:17764079, PMID:19759387, PMID:22106030]",y,y +GARD:0000431,Orphanet,83463,ORPHA:83463,8,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,"[PMID:17764079, PMID:19759387, PMID:22106030]",y,y +GARD:0000431,Orphanet,83463,ORPHA:83463,8,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:17764079, PMID:19759387, PMID:22106030]",y,y +GARD:0000431,Orphanet,83463,ORPHA:83463,8,HP:0008551,Microtia,Obligate (100%),TAS,,,,"[PMID:17764079, PMID:19759387, PMID:22106030]",y,y +GARD:0000431,Orphanet,83463,ORPHA:83463,8,HP:0008589,Hypoplastic helices,Frequent (79-30%),TAS,,,,"[PMID:17764079, PMID:19759387, PMID:22106030]",y,y +GARD:0000431,Orphanet,83463,ORPHA:83463,8,HP:0009892,Anotia,Frequent (79-30%),TAS,,,,"[PMID:17764079, PMID:19759387, PMID:22106030]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0000121,Nephrocalcinosis,Frequent (79-30%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0001095,Hypertensive retinopathy,Occasional (29-5%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0001959,Polydipsia,Frequent (79-30%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0001960,Hypokalemic metabolic alkalosis,Frequent (79-30%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0003351,Decreased circulating renin level,Very frequent (99-80%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0004319,Decreased circulating aldosterone level,Frequent (79-30%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0011731,Abnormality of circulating cortisol level,Frequent (79-30%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0012603,Abnormal urine sodium concentration,Frequent (79-30%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000433,Orphanet,320,ORPHA:320,17,HP:0012606,Renal sodium wasting,Excluded (0%),TAS,,,,"[PMID:10536001, PMID:17314322, PMID:20610969, PMID:226561, PMID:870517]",y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,,y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0001181,Adducted thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0001331,Absent septum pellucidum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0002410,Aqueductal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0002516,Increased intracranial pressure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0004374,Hemiplegia/hemiparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000434,Orphanet,2182,ORPHA:2182,15,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000435,Orphanet,1995,ORPHA:1995,4,HP:0000488,Retinopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000435,Orphanet,1995,ORPHA:1995,4,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000435,Orphanet,1995,ORPHA:1995,4,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000435,Orphanet,1995,ORPHA:1995,4,HP:0100335,Non-midline cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0001701,Pericarditis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0001974,Leukocytosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0002091,Restrictive ventilatory defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0002102,Pleuritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0003119,Abnormal circulating lipid concentration,Occasional (29-5%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0008940,Generalized lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0011227,Elevated circulating C-reactive protein concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0011897,Neutrophilia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0100773,Cartilage destruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0000436,Orphanet,829,ORPHA:829,28,HP:0100776,Recurrent pharyngitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000438,Orphanet,62,ORPHA:62,14,HP:0001771,Achilles tendon contracture,Frequent (79-30%),TAS,,,,"[PMID:22303798, PMID:9585331]",y,y +GARD:0000438,Orphanet,62,ORPHA:62,14,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:22303798, PMID:9585331]",y,y +GARD:0000438,Orphanet,62,ORPHA:62,14,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:22303798, PMID:9585331]",y,y +GARD:0000438,Orphanet,62,ORPHA:62,14,HP:0002943,Thoracic scoliosis,Occasional (29-5%),TAS,,,,"[PMID:22303798, PMID:9585331]",y,y +GARD:0000438,Orphanet,62,ORPHA:62,14,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:22303798, PMID:9585331]",y,y +GARD:0000438,Orphanet,62,ORPHA:62,14,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:22303798, PMID:9585331]",y,y +GARD:0000438,Orphanet,62,ORPHA:62,14,HP:0003391,Gowers sign,Frequent (79-30%),TAS,,,,"[PMID:22303798, PMID:9585331]",y,y +GARD:0000438,Orphanet,62,ORPHA:62,14,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:22303798, PMID:9585331]",y,y +GARD:0000438,Orphanet,62,ORPHA:62,14,HP:0003560,Muscular dystrophy,Frequent (79-30%),TAS,,,,"[PMID:22303798, PMID:9585331]",y,y +GARD:0000438,Orphanet,62,ORPHA:62,14,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,"[PMID:22303798, PMID:9585331]",y,y +GARD:0000438,Orphanet,62,ORPHA:62,14,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:22303798, PMID:9585331]",y,y +GARD:0000438,Orphanet,62,ORPHA:62,14,HP:0003707,Calf muscle pseudohypertrophy,Frequent (79-30%),TAS,,,,"[PMID:22303798, PMID:9585331]",y,y +GARD:0000438,Orphanet,62,ORPHA:62,14,HP:0006467,Limited shoulder movement,Frequent (79-30%),TAS,,,,"[PMID:22303798, PMID:9585331]",y,y +GARD:0000438,Orphanet,62,ORPHA:62,14,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,"[PMID:22303798, PMID:9585331]",y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0000437,Depressed nasal tip,Frequent (79-30%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0001010,Hypopigmentation of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0001103,Abnormal macular morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0001522,Death in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0001638,Cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0001947,Renal tubular acidosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0002282,Gray matter heterotopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0004315,Decreased circulating IgG level,Occasional (29-5%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0005374,Cellular immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0005999,Ureteral atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0008348,Decreased circulating IgG2 level,Occasional (29-5%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,,y,y +GARD:0000448,Orphanet,1493,ORPHA:1493,35,HP:0012110,Hypoplasia of the pons,Frequent (79-30%),TAS,,,,,y,y +GARD:0000453,Orphanet,90301,ORPHA:90301,9,HP:0000105,Enlarged kidney,Frequent (79-30%),TAS,,,,[PMID:6997748],y,y +GARD:0000453,Orphanet,90301,ORPHA:90301,9,HP:0000147,Polycystic ovaries,Very frequent (99-80%),TAS,,,,[PMID:6997748],y,y +GARD:0000453,Orphanet,90301,ORPHA:90301,9,HP:0000831,Insulin-resistant diabetes mellitus,Very frequent (99-80%),TAS,,,,[PMID:6997748],y,y +GARD:0000453,Orphanet,90301,ORPHA:90301,9,HP:0000845,Elevated circulating growth hormone concentration,Very frequent (99-80%),TAS,,,,[PMID:6997748],y,y +GARD:0000453,Orphanet,90301,ORPHA:90301,9,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,[PMID:6997748],y,y +GARD:0000453,Orphanet,90301,ORPHA:90301,9,HP:0000956,Acanthosis nigricans,Very frequent (99-80%),TAS,,,,[PMID:6997748],y,y +GARD:0000453,Orphanet,90301,ORPHA:90301,9,HP:0001007,Hirsutism,Very frequent (99-80%),TAS,,,,[PMID:6997748],y,y +GARD:0000453,Orphanet,90301,ORPHA:90301,9,HP:0003394,Muscle spasm,Very frequent (99-80%),TAS,,,,[PMID:6997748],y,y +GARD:0000453,Orphanet,90301,ORPHA:90301,9,HP:0008675,Enlarged polycystic ovaries,Very frequent (99-80%),TAS,,,,[PMID:6997748],y,y +GARD:0000456,Orphanet,929,ORPHA:929,10,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000456,Orphanet,929,ORPHA:929,10,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000456,Orphanet,929,ORPHA:929,10,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000456,Orphanet,929,ORPHA:929,10,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000456,Orphanet,929,ORPHA:929,10,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000456,Orphanet,929,ORPHA:929,10,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000456,Orphanet,929,ORPHA:929,10,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000456,Orphanet,929,ORPHA:929,10,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000456,Orphanet,929,ORPHA:929,10,HP:0002571,Achalasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000456,Orphanet,929,ORPHA:929,10,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0000830,Anterior hypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0000846,Adrenal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0001430,Abnormality of the calf musculature,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0002571,Achalasia,Very frequent (99-80%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0007002,Motor axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0007556,Plantar hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000457,Orphanet,869,ORPHA:869,22,HP:0010486,Abnormality of the hypothenar eminence,Occasional (29-5%),TAS,,,,"[PMID:27707803, PMID:78049]",y,y +GARD:0000458,Orphanet,168555,ORPHA:168555,8,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,[PMID:9637426],y,y +GARD:0000458,Orphanet,168555,ORPHA:168555,8,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,[PMID:9637426],y,y +GARD:0000458,Orphanet,168555,ORPHA:168555,8,HP:0002657,Spondylometaphyseal dysplasia,Very frequent (99-80%),TAS,,,,[PMID:9637426],y,y +GARD:0000458,Orphanet,168555,ORPHA:168555,8,HP:0002812,Coxa vara,Very frequent (99-80%),TAS,,,,[PMID:9637426],y,y +GARD:0000458,Orphanet,168555,ORPHA:168555,8,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,[PMID:9637426],y,y +GARD:0000458,Orphanet,168555,ORPHA:168555,8,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,[PMID:9637426],y,y +GARD:0000458,Orphanet,168555,ORPHA:168555,8,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,[PMID:9637426],y,y +GARD:0000458,Orphanet,168555,ORPHA:168555,8,HP:0006603,"Flared, irregular rib ends",Occasional (29-5%),TAS,,,,[PMID:9637426],y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0000474,Thickened nuchal skin fold,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0000476,Cystic hygroma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0001789,Hydrops fetalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0003336,Abnormal enchondral ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0005716,Lethal skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0006640,Multiple rib fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000459,Orphanet,93299,ORPHA:93299,27,HP:0100541,Femoral hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0000474,Thickened nuchal skin fold,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0000476,Cystic hygroma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0001789,Hydrops fetalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0003336,Abnormal enchondral ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0003498,Disproportionate short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0005716,Lethal skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000460,Orphanet,93298,ORPHA:93298,26,HP:0100541,Femoral hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000465,Orphanet,33,ORPHA:33,3,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000465,Orphanet,33,ORPHA:33,3,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000465,Orphanet,33,ORPHA:33,3,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000467,Orphanet,35,ORPHA:35,11,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0000467,Orphanet,35,ORPHA:35,11,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0000467,Orphanet,35,ORPHA:35,11,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000467,Orphanet,35,ORPHA:35,11,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000467,Orphanet,35,ORPHA:35,11,HP:0001987,Hyperammonemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000467,Orphanet,35,ORPHA:35,11,HP:0001992,Organic aciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000467,Orphanet,35,ORPHA:35,11,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000467,Orphanet,35,ORPHA:35,11,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000467,Orphanet,35,ORPHA:35,11,HP:0003353,Propionyl-CoA carboxylase deficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000467,Orphanet,35,ORPHA:35,11,HP:0010978,Abnormality of immune system physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000467,Orphanet,35,ORPHA:35,11,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0006775,Multiple myeloma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0100242,Sarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0100326,Immunologic hypersensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000476,Orphanet,454,ORPHA:454,15,HP:0200034,Papule,Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000275,Narrow face,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000813,Bicornuate uterus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000882,Hypoplastic scapulae,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000883,Thin ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000889,Abnormal clavicle morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0000912,Sprengel anomaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0001839,Split foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0002937,Hemivertebrae,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0002984,Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0003022,Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0003316,Butterfly vertebrae,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0003762,Uterus didelphys,Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0004408,Abnormality of the sense of smell,Frequent (79-30%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0006381,Rudimentary fibula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0006426,Rudimentary to absent tibiae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0008678,Renal hypoplasia/aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0010295,Aplasia/Hypoplasia of the tongue,Occasional (29-5%),TAS,,,,,y,y +GARD:0000480,Orphanet,958,ORPHA:958,37,HP:0010669,Hypoplasia of the zygomatic bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0000625,Eyelid coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0001088,Brushfield spots,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0001798,Anonychia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0004132,Dimple on nasal tip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0100335,Non-midline cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000484,Orphanet,1784,ORPHA:1784,29,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000491,Orphanet,2956,ORPHA:2956,4,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000491,Orphanet,2956,ORPHA:2956,4,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000491,Orphanet,2956,ORPHA:2956,4,HP:0003298,Spina bifida occulta,Frequent (79-30%),TAS,,,,,y,y +GARD:0000491,Orphanet,2956,ORPHA:2956,4,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0000308,Microretrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0002006,Facial cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0002208,Coarse hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0004467,Preauricular pit,Frequent (79-30%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0009804,Tooth agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0010720,Abnormal hair pattern,Frequent (79-30%),TAS,,,,,y,y +GARD:0000494,Orphanet,1786,ORPHA:1786,35,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0000130,Abnormality of the uterus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0000308,Microretrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0000912,Sprengel anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0001180,Hand oligodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0002139,Arrhinencephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0002410,Aqueductal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0002644,Abnormality of pelvic girdle bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0003038,Fibular hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0006495,Aplasia/Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0006501,Aplasia/Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000496,Orphanet,1788,ORPHA:1788,20,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0000190,Abnormal oral frenulum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0000698,Conical tooth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0001792,Small nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0001800,Hypoplastic toenails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0002006,Facial cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0003502,Mild short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0006288,Advanced eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0006315,Solitary median maxillary central incisor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0009738,Abnormal antihelix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0010557,Overlapping fingers,Frequent (79-30%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0100797,Toenail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000497,Orphanet,952,ORPHA:952,19,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0000413,Atresia of the external auditory canal,Frequent (79-30%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0000652,Lower eyelid coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0001199,Triphalangeal thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0002814,Abnormality of the lower limb,Occasional (29-5%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0002984,Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0005105,Abnormal nasal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0006501,Aplasia/Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0007776,Sparse lower eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0009601,Aplasia/Hypoplasia of the thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0009829,Phocomelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0100335,Non-midline cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0000498,Orphanet,245,ORPHA:245,29,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0000294,Low anterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0000492,Abnormal eyelid morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0000653,Sparse eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0000677,Oligodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0003777,Pili torti,Occasional (29-5%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0004334,Dermal atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0005338,Sparse lateral eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0008065,Aplasia/Hypoplasia of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0010044,Short 4th metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0011069,Supernumerary tooth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0045074,Thin eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0100333,Unilateral cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0000499,Orphanet,1787,ORPHA:1787,29,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0000185,Cleft soft palate,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0000402,Stenosis of the external auditory canal,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0000925,Abnormality of the vertebral column,Very frequent (99-80%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0002812,Coxa vara,Frequent (79-30%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0002815,Abnormality of the knee,Frequent (79-30%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0002867,Abnormal ilium morphology,Frequent (79-30%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0003019,Abnormality of the wrist,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0003026,Short long bone,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0003375,Narrow greater sciatic notch,Frequent (79-30%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0003521,Disproportionate short-trunk short stature,Frequent (79-30%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0003796,Irregular iliac crest,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0008833,Irregular acetabular roof,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0010574,Abnormality of the epiphysis of the femoral head,Frequent (79-30%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0100255,Metaphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0100864,Short femoral neck,Occasional (29-5%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000504,Orphanet,93316,ORPHA:93316,30,HP:0100866,Short iliac bones,Frequent (79-30%),TAS,,,,"[PMID:23653587, PMID:3368247]",y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0002644,Abnormality of pelvic girdle bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0002999,Patellar dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0003028,Abnormality of the ankles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0003086,Acromesomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0006011,Cuboidal metacarpal,Frequent (79-30%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0006014,Abnormally shaped carpal bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0008368,Tarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0008890,Severe short-limb dwarfism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0009778,Short thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,,y,y +GARD:0000506,Orphanet,968,ORPHA:968,18,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0000912,Sprengel anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0003086,Acromesomelia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0003300,Ovoid vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0003498,Disproportionate short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0004568,Beaking of vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0006487,Bowing of the long bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0008422,Vertebral wedging,Frequent (79-30%),TAS,,,,,y,y +GARD:0000507,Orphanet,40,ORPHA:40,18,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000269,Prominent occiput,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000277,Abnormal mandible morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000704,Periodontitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0001718,Mitral stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0001831,Short toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002208,Coarse hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002308,Chiari malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002315,Headache,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002645,Wormian bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002688,Absent frontal sinuses,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002691,Platybasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0004331,Decreased skull ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0004586,Biconcave vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0008424,Hypoplastic 5th lumbar vertebrae,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0010669,Hypoplasia of the zygomatic bone,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0010807,Open bite,Frequent (79-30%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0011305,Partial absence of toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0100670,Coarse metaphyseal trabecularization,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000508,Orphanet,955,ORPHA:955,86,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0000512,Orphanet,957,ORPHA:957,12,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000512,Orphanet,957,ORPHA:957,12,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000512,Orphanet,957,ORPHA:957,12,HP:0001199,Triphalangeal thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000512,Orphanet,957,ORPHA:957,12,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,,y,y +GARD:0000512,Orphanet,957,ORPHA:957,12,HP:0002414,Spina bifida,Frequent (79-30%),TAS,,,,,y,y +GARD:0000512,Orphanet,957,ORPHA:957,12,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,,y,y +GARD:0000512,Orphanet,957,ORPHA:957,12,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000512,Orphanet,957,ORPHA:957,12,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000512,Orphanet,957,ORPHA:957,12,HP:0008368,Tarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000512,Orphanet,957,ORPHA:957,12,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000512,Orphanet,957,ORPHA:957,12,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000512,Orphanet,957,ORPHA:957,12,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000514,Orphanet,971,ORPHA:971,11,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0000514,Orphanet,971,ORPHA:971,11,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000514,Orphanet,971,ORPHA:971,11,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000514,Orphanet,971,ORPHA:971,11,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0000514,Orphanet,971,ORPHA:971,11,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0000514,Orphanet,971,ORPHA:971,11,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000514,Orphanet,971,ORPHA:971,11,HP:0002992,Abnormality of tibia morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000514,Orphanet,971,ORPHA:971,11,HP:0002997,Abnormality of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0000514,Orphanet,971,ORPHA:971,11,HP:0006501,Aplasia/Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0000514,Orphanet,971,ORPHA:971,11,HP:0008678,Renal hypoplasia/aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000514,Orphanet,971,ORPHA:971,11,HP:0012210,Abnormal renal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000519,Orphanet,724,ORPHA:724,11,HP:0001879,Abnormal eosinophil morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000519,Orphanet,724,ORPHA:724,11,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000519,Orphanet,724,ORPHA:724,11,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0000519,Orphanet,724,ORPHA:724,11,HP:0002091,Restrictive ventilatory defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000519,Orphanet,724,ORPHA:724,11,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000519,Orphanet,724,ORPHA:724,11,HP:0002103,Abnormal pleura morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000519,Orphanet,724,ORPHA:724,11,HP:0002113,Pulmonary infiltrates,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000519,Orphanet,724,ORPHA:724,11,HP:0002793,Abnormal pattern of respiration,Frequent (79-30%),TAS,,,,,y,y +GARD:0000519,Orphanet,724,ORPHA:724,11,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000519,Orphanet,724,ORPHA:724,11,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0000519,Orphanet,724,ORPHA:724,11,HP:0100749,Chest pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0000464,Abnormality of the neck,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0001061,Acne,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0001644,Dilated cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0002037,Inflammation of the large intestine,Occasional (29-5%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0003002,Breast carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0004377,Hematological neoplasm,Occasional (29-5%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0004808,Acute myeloid leukemia,Occasional (29-5%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0005550,Chronic lymphatic leukemia,Very rare (<4-1%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0011118,Abnormality of tumor necrosis factor secretion,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0011897,Neutrophilia,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0011944,Small vessel vasculitis,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0012490,Panniculitis,Occasional (29-5%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0012531,Pain,Very frequent (99-80%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0020169,Abnormal drug response,Occasional (29-5%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0025452,Pyoderma gangrenosum,Occasional (29-5%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0025474,Erythematous plaque,Very frequent (99-80%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0025616,Sterile abscess,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0030350,Erythematous papule,Very frequent (99-80%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0030782,Abnormal circulating interleukin concentration,Very frequent (99-80%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0030783,Increased circulating interleukin 6 concentration,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0031236,Predominantly dermal neutrophilic infiltrate,Very frequent (99-80%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0032324,Non-periodic recurrent fever,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0040154,Acne inversa,Occasional (29-5%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0040313,Oligoarthritis,Occasional (29-5%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0100614,Myositis,Frequent (79-30%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0200036,Skin nodule,Very frequent (99-80%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0200037,Skin vesicle,Occasional (29-5%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000521,Orphanet,3243,ORPHA:3243,39,HP:0200039,Pustule,Occasional (29-5%),TAS,,,,"[PMID:27030597, PMID:28835462, PMID:28981179, PMID:30734344]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0001730,Progressive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0001785,Ankle swelling,Occasional (29-5%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0001931,Hypochromic anemia,Occasional (29-5%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0004845,Acute monocytic leukemia,Obligate (100%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0011787,Central hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0012145,Abnormality of multiple cell lineages in the bone marrow,Occasional (29-5%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0025289,Cervical lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0025435,Increased circulating lactate dehydrogenase concentration,Occasional (29-5%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0031020,Bone marrow hypercellularity,Frequent (79-30%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0100520,Oliguria,Occasional (29-5%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0100539,Periorbital edema,Occasional (29-5%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000525,Orphanet,514,ORPHA:514,20,HP:0100827,Lymphocytosis,Frequent (79-30%),TAS,,,,"[PMID:27884836, PMID:28642361, PMID:28658145, PMID:29417354, PMID:30524762, PMID:30631409]",y,y +GARD:0000529,Orphanet,517,ORPHA:517,9,HP:0000168,Abnormality of the gingiva,Occasional (29-5%),TAS,,,,"[PMID:18508801, PMID:26185647, PMID:28371234, PMID:29491461, PMID:6577285]",y,y +GARD:0000529,Orphanet,517,ORPHA:517,9,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:18508801, PMID:26185647, PMID:28371234, PMID:29491461, PMID:6577285]",y,y +GARD:0000529,Orphanet,517,ORPHA:517,9,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:18508801, PMID:26185647, PMID:28371234, PMID:29491461, PMID:6577285]",y,y +GARD:0000529,Orphanet,517,ORPHA:517,9,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:18508801, PMID:26185647, PMID:28371234, PMID:29491461, PMID:6577285]",y,y +GARD:0000529,Orphanet,517,ORPHA:517,9,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:18508801, PMID:26185647, PMID:28371234, PMID:29491461, PMID:6577285]",y,y +GARD:0000529,Orphanet,517,ORPHA:517,9,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:18508801, PMID:26185647, PMID:28371234, PMID:29491461, PMID:6577285]",y,y +GARD:0000529,Orphanet,517,ORPHA:517,9,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:18508801, PMID:26185647, PMID:28371234, PMID:29491461, PMID:6577285]",y,y +GARD:0000529,Orphanet,517,ORPHA:517,9,HP:0001974,Leukocytosis,Very frequent (99-80%),TAS,,,,"[PMID:18508801, PMID:26185647, PMID:28371234, PMID:29491461, PMID:6577285]",y,y +GARD:0000529,Orphanet,517,ORPHA:517,9,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:18508801, PMID:26185647, PMID:28371234, PMID:29491461, PMID:6577285]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0000225,Gingival bleeding,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0000790,Hematuria,Very rare (<4-1%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0000967,Petechiae,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0000979,Purpura,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0001876,Pancytopenia,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0005521,Disseminated intravascular coagulation,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0010280,Stomatitis,Occasional (29-5%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0011900,Hypofibrinogenemia,Occasional (29-5%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0025420,Diffuse alveolar hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0030140,Oral cavity bleeding,Occasional (29-5%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0030955,Alcoholism,Occasional (29-5%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0031020,Bone marrow hypercellularity,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0031035,Chronic infection,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0031245,Productive cough,Occasional (29-5%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0031364,Ecchymosis,Frequent (79-30%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0100608,Metrorrhagia,Very rare (<4-1%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000538,Orphanet,520,ORPHA:520,36,HP:0100758,Gangrene,Very rare (<4-1%),TAS,,,,"[PMID:26414475, PMID:28735889, PMID:30666067, PMID:30715157, PMID:30854206]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0001410,Decreased liver function,Frequent (79-30%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0001946,Ketosis,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0002875,Exertional dyspnea,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0003215,Dicarboxylic aciduria,Frequent (79-30%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0003473,Fatigable weakness,Frequent (79-30%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0003738,Exercise-induced myalgia,Frequent (79-30%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0005684,Distal arthrogryposis,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0011936,Decreased plasma total carnitine,Frequent (79-30%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0030199,Fatigable weakness of neck muscles,Frequent (79-30%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0040155,Elevated urinary 3-hydroxybutyric acid,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000540,Orphanet,42,ORPHA:42,37,HP:0045040,Abnormal lactate dehydrogenase level,Occasional (29-5%),TAS,,,,"[PMID:27536022, PMID:28927828, PMID:29350094, PMID:31033143]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0000016,Urinary retention,Occasional (29-5%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0000019,Urinary hesitancy,Occasional (29-5%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0000787,Nephrolithiasis,Frequent (79-30%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0000791,Uric acid nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0001919,Acute kidney injury,Frequent (79-30%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0005110,Atrial fibrillation,Occasional (29-5%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0011848,Abdominal colic,Occasional (29-5%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0012587,Macroscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0030157,Flank pain,Occasional (29-5%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0100518,Dysuria,Frequent (79-30%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000546,Orphanet,976,ORPHA:976,18,HP:0100520,Oliguria,Occasional (29-5%),TAS,,,,"[PMID:22934314, PMID:30993240, PMID:31378568, PMID:31440706]",y,y +GARD:0000547,Orphanet,45,ORPHA:45,7,HP:0002151,Increased serum lactate,Excluded (0%),TAS,,,,"[PMID:6122873, PMID:6707201, PMID:7440723, PMID:8486786]",y,y +GARD:0000547,Orphanet,45,ORPHA:45,7,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,"[PMID:6122873, PMID:6707201, PMID:7440723, PMID:8486786]",y,y +GARD:0000547,Orphanet,45,ORPHA:45,7,HP:0003394,Muscle spasm,Very frequent (99-80%),TAS,,,,"[PMID:6122873, PMID:6707201, PMID:7440723, PMID:8486786]",y,y +GARD:0000547,Orphanet,45,ORPHA:45,7,HP:0003690,Limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:6122873, PMID:6707201, PMID:7440723, PMID:8486786]",y,y +GARD:0000547,Orphanet,45,ORPHA:45,7,HP:0003738,Exercise-induced myalgia,Very frequent (99-80%),TAS,,,,"[PMID:6122873, PMID:6707201, PMID:7440723, PMID:8486786]",y,y +GARD:0000547,Orphanet,45,ORPHA:45,7,HP:0008331,Elevated creatine kinase after exercise,Excluded (0%),TAS,,,,"[PMID:6122873, PMID:6707201, PMID:7440723, PMID:8486786]",y,y +GARD:0000547,Orphanet,45,ORPHA:45,7,HP:0009020,Exercise-induced muscle fatigue,Very frequent (99-80%),TAS,,,,"[PMID:6122873, PMID:6707201, PMID:7440723, PMID:8486786]",y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0005469,Flat occiput,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0005487,Prominent metopic ridge,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0007103,Hypointensity of cerebral white matter on MRI,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000550,Orphanet,46,ORPHA:46,17,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:12070256],y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0000080,Abnormality of reproductive system physiology,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0000859,Hyperaldosteronism,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0000998,Hypertrichosis,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0001065,Striae distensae,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0001939,Abnormality of metabolism/homeostasis,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0002900,Hypokalemia,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0003110,Abnormality of urine homeostasis,Occasional (29-5%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0003118,Increased circulating cortisol level,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0003466,Paradoxical increased cortisol secretion on dexamethasone suppression test,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0004324,Increased body weight,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0006744,Adrenocortical carcinoma,Obligate (100%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0011748,Adrenocorticotropic hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0012030,Increased urinary cortisol level,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0025134,Increased serum estradiol,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0025269,Panic attack,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0025380,Increased circulating androstenedione concentration,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0025436,Elevated serum 11-deoxycortisol,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0030078,Lung adenocarcinoma,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0030348,Increased circulating androgen concentration,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000558,Orphanet,1501,ORPHA:1501,29,HP:0500022,Abnormal circulating dehydroepiandrosterone concentration,Frequent (79-30%),TAS,,,,"[PMID:26191527, PMID:29087170]",y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000260,Wide anterior fontanel,Frequent (79-30%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0001392,Abnormality of the liver,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0002269,Abnormality of neuronal migration,Frequent (79-30%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0008207,Primary adrenal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000559,Orphanet,44,ORPHA:44,29,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0000021,Megacystis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0000079,Abnormality of the urinary system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0000485,Megalocornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0002242,Abnormal intestine morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0007440,Generalized hyperpigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0008207,Primary adrenal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000562,Orphanet,977,ORPHA:977,16,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0000625,Eyelid coloboma,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001063,Acrocyanosis,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001087,Developmental glaucoma,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001639,Hypertrophic cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0001955,Unexplained fevers,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002132,Porencephalic cyst,Very frequent (99-80%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002139,Arrhinencephaly,Very frequent (99-80%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002187,"Intellectual disability, profound",Very frequent (99-80%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002371,Loss of speech,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002415,Leukodystrophy,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002510,Spastic tetraplegia,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002828,Multiple joint contractures,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0003552,Muscle stiffness,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0003683,Large beaked nose,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0004809,Neonatal alloimmune thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0004942,Aortic aneurysm,Very rare (<4-1%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0004963,Calcification of the aorta,Very rare (<4-1%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0005550,Chronic lymphatic leukemia,Very rare (<4-1%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0006579,Prolonged neonatal jaundice,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0007052,Multifocal cerebral white matter abnormalities,Very frequent (99-80%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0007076,Extrapyramidal muscular rigidity,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0007108,Demyelinating peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0009704,Chronic CSF lymphocytosis,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0009709,Increased CSF interferon alpha,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0009710,Chilblains,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0011834,Moyamoya phenomenon,Very rare (<4-1%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0012444,Brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0012490,Panniculitis,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0030038,Enchondroma,Very rare (<4-1%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0030356,Increased serum interferon-gamma level,Frequent (79-30%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0030880,Raynaud phenomenon,Occasional (29-5%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0040140,Degeneration of the striatum,Very rare (<4-1%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0100578,Lipoatrophy,Very rare (<4-1%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000575,Orphanet,51,ORPHA:51,72,HP:0100614,Myositis,Very rare (<4-1%),TAS,,,,"[PMID:21633013, PMID:23001123, PMID:24686847, PMID:24995871, PMID:26052098, PMID:26445875, PMID:27260006, PMID:27604406, PMID:29239743]",y,y +GARD:0000583,Orphanet,2865,ORPHA:2865,7,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,[PMID:8905197],y,y +GARD:0000583,Orphanet,2865,ORPHA:2865,7,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:8905197],y,y +GARD:0000583,Orphanet,2865,ORPHA:2865,7,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:8905197],y,y +GARD:0000583,Orphanet,2865,ORPHA:2865,7,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,[PMID:8905197],y,y +GARD:0000583,Orphanet,2865,ORPHA:2865,7,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,[PMID:8905197],y,y +GARD:0000583,Orphanet,2865,ORPHA:2865,7,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:8905197],y,y +GARD:0000583,Orphanet,2865,ORPHA:2865,7,HP:0011354,Generalized abnormality of skin,Frequent (79-30%),TAS,,,,[PMID:8905197],y,y +GARD:0000587,Orphanet,2773,ORPHA:2773,8,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000587,Orphanet,2773,ORPHA:2773,8,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000587,Orphanet,2773,ORPHA:2773,8,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000587,Orphanet,2773,ORPHA:2773,8,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000587,Orphanet,2773,ORPHA:2773,8,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000587,Orphanet,2773,ORPHA:2773,8,HP:0002645,Wormian bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000587,Orphanet,2773,ORPHA:2773,8,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000587,Orphanet,2773,ORPHA:2773,8,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000588,Orphanet,2007,ORPHA:2007,7,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000588,Orphanet,2007,ORPHA:2007,7,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000588,Orphanet,2007,ORPHA:2007,7,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000588,Orphanet,2007,ORPHA:2007,7,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000588,Orphanet,2007,ORPHA:2007,7,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000588,Orphanet,2007,ORPHA:2007,7,HP:0003191,Cleft ala nasi,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000588,Orphanet,2007,ORPHA:2007,7,HP:0100335,Non-midline cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000589,Orphanet,998,ORPHA:998,7,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000589,Orphanet,998,ORPHA:998,7,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000589,Orphanet,998,ORPHA:998,7,HP:0001100,Heterochromia iridis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000589,Orphanet,998,ORPHA:998,7,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000589,Orphanet,998,ORPHA:998,7,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000589,Orphanet,998,ORPHA:998,7,HP:0007443,Partial albinism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000589,Orphanet,998,ORPHA:998,7,HP:0007544,Piebaldism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000592,Orphanet,1000,ORPHA:1000,6,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000592,Orphanet,1000,ORPHA:1000,6,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000592,Orphanet,1000,ORPHA:1000,6,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000592,Orphanet,1000,ORPHA:1000,6,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000592,Orphanet,1000,ORPHA:1000,6,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000592,Orphanet,1000,ORPHA:1000,6,HP:0001107,Ocular albinism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0000587,Abnormality of the optic nerve,Frequent (79-30%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0000995,Melanocytic nevus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0001010,Hypopigmentation of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0001022,Albinism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0001480,Freckling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0002671,Basal cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0006739,Squamous cell carcinoma of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000594,Orphanet,79434,ORPHA:79434,17,HP:0007750,Hypoplasia of the fovea,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0010978,Abnormality of immune system physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000599,Orphanet,1915,ORPHA:1915,32,HP:0100761,Visceral angiomatosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0001878,Hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0002153,Hyperkalemia,Occasional (29-5%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0002913,Myoglobinuria,Occasional (29-5%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0003199,Decreased muscle mass,Occasional (29-5%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0003558,Viral infection-induced rhabdomyolysis,Frequent (79-30%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0003756,Skeletal myopathy,Frequent (79-30%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0008331,Elevated creatine kinase after exercise,Frequent (79-30%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0009045,Exercise-induced rhabdomyolysis,Frequent (79-30%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0012545,Reduced aldolase level,Very frequent (99-80%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000600,Orphanet,57,ORPHA:57,21,HP:0100295,Muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:14615364, PMID:25778939, PMID:33665120]",y,y +GARD:0000602,Orphanet,1164,ORPHA:1164,14,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000602,Orphanet,1164,ORPHA:1164,14,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0000602,Orphanet,1164,ORPHA:1164,14,HP:0001879,Abnormal eosinophil morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000602,Orphanet,1164,ORPHA:1164,14,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0000602,Orphanet,1164,ORPHA:1164,14,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0000602,Orphanet,1164,ORPHA:1164,14,HP:0002097,Emphysema,Occasional (29-5%),TAS,,,,,y,y +GARD:0000602,Orphanet,1164,ORPHA:1164,14,HP:0002099,Asthma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000602,Orphanet,1164,ORPHA:1164,14,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000602,Orphanet,1164,ORPHA:1164,14,HP:0002110,Bronchiectasis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000602,Orphanet,1164,ORPHA:1164,14,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000602,Orphanet,1164,ORPHA:1164,14,HP:0002715,Abnormality of the immune system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000602,Orphanet,1164,ORPHA:1164,14,HP:0011134,Low-grade fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0000602,Orphanet,1164,ORPHA:1164,14,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000602,Orphanet,1164,ORPHA:1164,14,HP:0025426,Abnormal bronchus morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0000613,Photophobia,Very rare (<4-1%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0000653,Sparse eyelashes,Very frequent (99-80%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0001041,Facial erythema,Occasional (29-5%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0001058,Poor wound healing,Occasional (29-5%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0001807,Ridged nail,Frequent (79-30%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0002223,Absent eyebrow,Occasional (29-5%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0002298,Absent hair,Occasional (29-5%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0004528,Generalized hypotrichosis,Frequent (79-30%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0009886,Trichorrhexis nodosa,Occasional (29-5%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0009900,Unilateral deafness,Occasional (29-5%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0010491,Digital constriction ring,Frequent (79-30%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0011838,Sclerodactyly,Frequent (79-30%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0012785,Flexion contracture of finger,Frequent (79-30%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0031057,Skin fissure,Occasional (29-5%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0032152,Keratosis pilaris,Frequent (79-30%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000604,Orphanet,1010,ORPHA:1010,25,HP:0100018,Nuclear cataract,Occasional (29-5%),TAS,,,,"[PMID:20635335, PMID:27339777]",y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0000262,Turricephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0005048,Synostosis of carpal bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0005819,Short middle phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0006887,"Intellectual disability, progressive",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0008388,Abnormal toenail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0008855,Moderate postnatal growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0009738,Abnormal antihelix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000605,Orphanet,1005,ORPHA:1005,35,HP:0011039,Abnormal helix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000606,Orphanet,2574,ORPHA:2574,10,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000606,Orphanet,2574,ORPHA:2574,10,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000606,Orphanet,2574,ORPHA:2574,10,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000606,Orphanet,2574,ORPHA:2574,10,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000606,Orphanet,2574,ORPHA:2574,10,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000606,Orphanet,2574,ORPHA:2574,10,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000606,Orphanet,2574,ORPHA:2574,10,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000606,Orphanet,2574,ORPHA:2574,10,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000606,Orphanet,2574,ORPHA:2574,10,HP:0004326,Cachexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000606,Orphanet,2574,ORPHA:2574,10,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0000607,Orphanet,1008,ORPHA:1008,14,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000607,Orphanet,1008,ORPHA:1008,14,HP:0000230,Gingivitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000607,Orphanet,1008,ORPHA:1008,14,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000607,Orphanet,1008,ORPHA:1008,14,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000607,Orphanet,1008,ORPHA:1008,14,HP:0000499,Abnormal eyelash morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000607,Orphanet,1008,ORPHA:1008,14,HP:0000704,Periodontitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000607,Orphanet,1008,ORPHA:1008,14,HP:0000995,Melanocytic nevus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000607,Orphanet,1008,ORPHA:1008,14,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000607,Orphanet,1008,ORPHA:1008,14,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000607,Orphanet,1008,ORPHA:1008,14,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000607,Orphanet,1008,ORPHA:1008,14,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000607,Orphanet,1008,ORPHA:1008,14,HP:0002289,Alopecia universalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000607,Orphanet,1008,ORPHA:1008,14,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000607,Orphanet,1008,ORPHA:1008,14,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0000815,Hypergonadotropic hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0001171,Split hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0005105,Abnormal nasal morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0008064,Ichthyosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0011842,Abnormal skeletal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000612,Orphanet,2850,ORPHA:2850,24,HP:0200012,Short corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000613,Orphanet,700,ORPHA:700,2,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000613,Orphanet,700,ORPHA:700,2,HP:0002293,Alopecia of scalp,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000614,Orphanet,701,ORPHA:701,4,HP:0000561,Absent eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000614,Orphanet,701,ORPHA:701,4,HP:0002223,Absent eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000614,Orphanet,701,ORPHA:701,4,HP:0002232,Patchy alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000614,Orphanet,701,ORPHA:701,4,HP:0002289,Alopecia universalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000617,Orphanet,31,ORPHA:31,10,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000617,Orphanet,31,ORPHA:31,10,HP:0000816,Abnormality of Krebs cycle metabolism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000617,Orphanet,31,ORPHA:31,10,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000617,Orphanet,31,ORPHA:31,10,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000617,Orphanet,31,ORPHA:31,10,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000617,Orphanet,31,ORPHA:31,10,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000617,Orphanet,31,ORPHA:31,10,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000617,Orphanet,31,ORPHA:31,10,HP:0010286,Abnormal salivary gland morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000617,Orphanet,31,ORPHA:31,10,HP:0012401,Abnormal urine alpha-ketoglutarate concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000617,Orphanet,31,ORPHA:31,10,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0000621,Orphanet,846,ORPHA:846,12,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,,y,y +GARD:0000621,Orphanet,846,ORPHA:846,12,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000621,Orphanet,846,ORPHA:846,12,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000621,Orphanet,846,ORPHA:846,12,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000621,Orphanet,846,ORPHA:846,12,HP:0001878,Hemolytic anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000621,Orphanet,846,ORPHA:846,12,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000621,Orphanet,846,ORPHA:846,12,HP:0001935,Microcytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000621,Orphanet,846,ORPHA:846,12,HP:0001971,Hypersplenism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000621,Orphanet,846,ORPHA:846,12,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000621,Orphanet,846,ORPHA:846,12,HP:0010978,Abnormality of immune system physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000621,Orphanet,846,ORPHA:846,12,HP:0011902,Abnormal hemoglobin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000621,Orphanet,846,ORPHA:846,12,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0000512,Abnormal electroretinogram,Frequent (79-30%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0000563,Keratoconus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0001141,Severely reduced visual acuity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0002084,Encephalocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0002269,Abnormality of neuronal migration,Frequent (79-30%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0006817,Aplasia/Hypoplasia of the cerebellar vermis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000634,Orphanet,65,ORPHA:65,16,HP:0012795,Abnormality of the optic disc,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000637,Orphanet,1021,ORPHA:1021,11,HP:0000499,Abnormal eyelash morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000637,Orphanet,1021,ORPHA:1021,11,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000637,Orphanet,1021,ORPHA:1021,11,HP:0000548,Cone/cone-rod dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000637,Orphanet,1021,ORPHA:1021,11,HP:0000556,Retinal dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000637,Orphanet,1021,ORPHA:1021,11,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000637,Orphanet,1021,ORPHA:1021,11,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000637,Orphanet,1021,ORPHA:1021,11,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000637,Orphanet,1021,ORPHA:1021,11,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000637,Orphanet,1021,ORPHA:1021,11,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000637,Orphanet,1021,ORPHA:1021,11,HP:0002208,Coarse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000637,Orphanet,1021,ORPHA:1021,11,HP:0008499,High hypermetropia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000640,Orphanet,3319,ORPHA:3319,11,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0000640,Orphanet,3319,ORPHA:3319,11,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0000640,Orphanet,3319,ORPHA:3319,11,HP:0000995,Melanocytic nevus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000640,Orphanet,3319,ORPHA:3319,11,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000640,Orphanet,3319,ORPHA:3319,11,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000640,Orphanet,3319,ORPHA:3319,11,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000640,Orphanet,3319,ORPHA:3319,11,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000640,Orphanet,3319,ORPHA:3319,11,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000640,Orphanet,3319,ORPHA:3319,11,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000640,Orphanet,3319,ORPHA:3319,11,HP:0004331,Decreased skull ossification,Occasional (29-5%),TAS,,,,,y,y +GARD:0000640,Orphanet,3319,ORPHA:3319,11,HP:0011902,Abnormal hemoglobin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0000121,Nephrocalcinosis,Very frequent (99-80%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0000705,Amelogenesis imperfecta,Very frequent (99-80%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0000805,Enuresis,Frequent (79-30%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0003127,Hypocalciuria,Frequent (79-30%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0004727,Impaired renal concentrating ability,Frequent (79-30%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0006286,Yellow-brown discoloration of the teeth,Very frequent (99-80%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0011073,Abnormality of dental color,Very frequent (99-80%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0012365,Hypophosphaturia,Frequent (79-30%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0031428,Increased circulating osteocalcin level,Very frequent (99-80%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000646,Orphanet,1031,ORPHA:1031,15,HP:0100530,Abnormal calcium-phosphate regulating hormone level,Very frequent (99-80%),TAS,,,,"[PMID:12597691, PMID:21549343, PMID:3872071]",y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,,y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0001800,Hypoplastic toenails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0001806,Onycholysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0006286,Yellow-brown discoloration of the teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0006288,Advanced eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0009804,Tooth agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000647,Orphanet,1028,ORPHA:1028,15,HP:0011073,Abnormality of dental color,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0000069,Abnormality of the ureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0002983,Micromelia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0000654,Orphanet,1035,ORPHA:1035,24,HP:0100720,Hypoplasia of the ear cartilage,Frequent (79-30%),TAS,,,,,y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0000475,Broad neck,Very frequent (99-80%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0000853,Goiter,Very frequent (99-80%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0001605,Vocal cord paralysis,Frequent (79-30%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0001609,Hoarse voice,Very frequent (99-80%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0002575,Tracheoesophageal fistula,Very rare (<4-1%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0002781,Upper airway obstruction,Frequent (79-30%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0004894,Laryngotracheal stenosis,Frequent (79-30%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0005994,Nodular goiter,Very frequent (99-80%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0010307,Stridor,Occasional (29-5%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0010622,Neoplasm of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0011779,Anaplastic thyroid carcinoma,Obligate (100%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0011805,Abnormal skeletal muscle morphology,Occasional (29-5%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0100526,Neoplasm of the lung,Frequent (79-30%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000664,Orphanet,142,ORPHA:142,23,HP:0100836,Malignant neoplasm of the central nervous system,Very rare (<4-1%),TAS,,,,"[PMID:11061600, PMID:11742333, PMID:22869844, PMID:3967175, PMID:9737368]",y,y +GARD:0000668,Orphanet,2802,ORPHA:2802,11,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000668,Orphanet,2802,ORPHA:2802,11,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000668,Orphanet,2802,ORPHA:2802,11,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000668,Orphanet,2802,ORPHA:2802,11,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000668,Orphanet,2802,ORPHA:2802,11,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0000668,Orphanet,2802,ORPHA:2802,11,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000668,Orphanet,2802,ORPHA:2802,11,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000668,Orphanet,2802,ORPHA:2802,11,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000668,Orphanet,2802,ORPHA:2802,11,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000668,Orphanet,2802,ORPHA:2802,11,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000668,Orphanet,2802,ORPHA:2802,11,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0000670,Orphanet,1054,ORPHA:1054,11,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:10798425, PMID:17437748, PMID:8461229]",y,y +GARD:0000670,Orphanet,1054,ORPHA:1054,11,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:10798425, PMID:17437748, PMID:8461229]",y,y +GARD:0000670,Orphanet,1054,ORPHA:1054,11,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:10798425, PMID:17437748, PMID:8461229]",y,y +GARD:0000670,Orphanet,1054,ORPHA:1054,11,HP:0001659,Aortic regurgitation,Frequent (79-30%),TAS,,,,"[PMID:10798425, PMID:17437748, PMID:8461229]",y,y +GARD:0000670,Orphanet,1054,ORPHA:1054,11,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:10798425, PMID:17437748, PMID:8461229]",y,y +GARD:0000670,Orphanet,1054,ORPHA:1054,11,HP:0006689,Bacterial endocarditis,Very rare (<4-1%),TAS,,,,"[PMID:10798425, PMID:17437748, PMID:8461229]",y,y +GARD:0000670,Orphanet,1054,ORPHA:1054,11,HP:0011645,Dilatation of the sinus of Valsalva,Obligate (100%),TAS,,,,"[PMID:10798425, PMID:17437748, PMID:8461229]",y,y +GARD:0000670,Orphanet,1054,ORPHA:1054,11,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:10798425, PMID:17437748, PMID:8461229]",y,y +GARD:0000670,Orphanet,1054,ORPHA:1054,11,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:10798425, PMID:17437748, PMID:8461229]",y,y +GARD:0000670,Orphanet,1054,ORPHA:1054,11,HP:0100520,Oliguria,Very rare (<4-1%),TAS,,,,"[PMID:10798425, PMID:17437748, PMID:8461229]",y,y +GARD:0000670,Orphanet,1054,ORPHA:1054,11,HP:0100749,Chest pain,Very rare (<4-1%),TAS,,,,"[PMID:10798425, PMID:17437748, PMID:8461229]",y,y +GARD:0000671,Orphanet,63442,ORPHA:63442,11,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000671,Orphanet,63442,ORPHA:63442,11,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000671,Orphanet,63442,ORPHA:63442,11,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000671,Orphanet,63442,ORPHA:63442,11,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000671,Orphanet,63442,ORPHA:63442,11,HP:0004220,Short middle phalanx of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000671,Orphanet,63442,ORPHA:63442,11,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000671,Orphanet,63442,ORPHA:63442,11,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0000671,Orphanet,63442,ORPHA:63442,11,HP:0005819,Short middle phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000671,Orphanet,63442,ORPHA:63442,11,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000671,Orphanet,63442,ORPHA:63442,11,HP:0008843,Hip osteoarthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000671,Orphanet,63442,ORPHA:63442,11,HP:0010034,Short 1st metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000676,Orphanet,1062,ORPHA:1062,4,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,,y,y +GARD:0000676,Orphanet,1062,ORPHA:1062,4,HP:0001028,Hemangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000676,Orphanet,1062,ORPHA:1062,4,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000676,Orphanet,1062,ORPHA:1062,4,HP:0002277,Horner syndrome,Frequent (79-30%),TAS,,,,,y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0000651,Diplopia,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0001262,Excessive daytime somnolence,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0001287,Meningitis,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0002181,Cerebral edema,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0002460,Distal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0002516,Increased intracranial pressure,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0002587,Projectile vomiting,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0003237,Increased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0003261,Increased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0003496,Increased circulating IgM level,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0011450,Unusual CNS infection,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0012229,CSF pleocytosis,Very frequent (99-80%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0025258,Stiff neck,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0030833,Neck pain,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0031179,Nuchal rigidity,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0032061,Hypereosinophilia,Very frequent (99-80%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0032064,Gastrointestinal eosinophilia,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0032336,Increased circulating specific IgE antibody,Occasional (29-5%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0100963,Hyperesthesia,Very rare (<4-1%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000683,Orphanet,74,ORPHA:74,39,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:18922484, PMID:29411969, PMID:31287041]",y,y +GARD:0000685,Orphanet,1069,ORPHA:1069,8,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000685,Orphanet,1069,ORPHA:1069,8,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000685,Orphanet,1069,ORPHA:1069,8,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000685,Orphanet,1069,ORPHA:1069,8,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000685,Orphanet,1069,ORPHA:1069,8,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0000685,Orphanet,1069,ORPHA:1069,8,HP:0000526,Aniridia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000685,Orphanet,1069,ORPHA:1069,8,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000685,Orphanet,1069,ORPHA:1069,8,HP:0006498,Aplasia/Hypoplasia of the patella,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000689,Orphanet,1067,ORPHA:1067,11,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000689,Orphanet,1067,ORPHA:1067,11,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000689,Orphanet,1067,ORPHA:1067,11,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0000689,Orphanet,1067,ORPHA:1067,11,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000689,Orphanet,1067,ORPHA:1067,11,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000689,Orphanet,1067,ORPHA:1067,11,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000689,Orphanet,1067,ORPHA:1067,11,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000689,Orphanet,1067,ORPHA:1067,11,HP:0005599,Hypopigmentation of hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0000689,Orphanet,1067,ORPHA:1067,11,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000689,Orphanet,1067,ORPHA:1067,11,HP:0008053,Aplasia/Hypoplasia of the iris,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000689,Orphanet,1067,ORPHA:1067,11,HP:0009917,Persistent pupillary membrane,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0000122,Unilateral renal agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0000526,Aniridia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0001087,Developmental glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0001334,Communicating hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000690,Orphanet,1064,ORPHA:1064,16,HP:0011342,Mild global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000696,Orphanet,1072,ORPHA:1072,5,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000696,Orphanet,1072,ORPHA:1072,5,HP:0009755,Ankyloblepharon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000696,Orphanet,1072,ORPHA:1072,5,HP:0009775,Amniotic constriction ring,Occasional (29-5%),TAS,,,,,y,y +GARD:0000696,Orphanet,1072,ORPHA:1072,5,HP:0100267,Lip pit,Occasional (29-5%),TAS,,,,,y,y +GARD:0000696,Orphanet,1072,ORPHA:1072,5,HP:0100335,Non-midline cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0000697,Orphanet,1074,ORPHA:1074,5,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000697,Orphanet,1074,ORPHA:1074,5,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000697,Orphanet,1074,ORPHA:1074,5,HP:0009755,Ankyloblepharon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000697,Orphanet,1074,ORPHA:1074,5,HP:0009804,Tooth agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000697,Orphanet,1074,ORPHA:1074,5,HP:0100335,Non-midline cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0000701,Orphanet,1077,ORPHA:1077,4,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000701,Orphanet,1077,ORPHA:1077,4,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000701,Orphanet,1077,ORPHA:1077,4,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000701,Orphanet,1077,ORPHA:1077,4,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000705,Orphanet,675,ORPHA:675,3,HP:0001734,Annular pancreas,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000705,Orphanet,675,ORPHA:675,3,HP:0005250,High intestinal obstruction,Frequent (79-30%),TAS,,,,,y,y +GARD:0000705,Orphanet,675,ORPHA:675,3,HP:0100867,Duodenal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0000089,Renal hypoplasia,Occasional (29-5%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0000130,Abnormality of the uterus,Occasional (29-5%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0000528,Anophthalmia,Very frequent (99-80%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0001734,Annular pancreas,Occasional (29-5%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0002088,Abnormal lung morphology,Frequent (79-30%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0025408,Abnormal spleen morphology,Occasional (29-5%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0100800,Aplasia/Hypoplasia of the pancreas,Occasional (29-5%),TAS,,,,[PMID:17236193],y,y +GARD:0000713,Orphanet,2470,ORPHA:2470,20,HP:0100867,Duodenal stenosis,Occasional (29-5%),TAS,,,,[PMID:17236193],y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0000485,Megalocornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0000526,Aniridia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0000528,Anophthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0000587,Abnormality of the optic nerve,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0000598,Abnormality of the ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0001131,Corneal dystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0001653,Mitral regurgitation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0001704,Tricuspid valve prolapse,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0004327,Abnormal vitreous humor morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0005180,Tricuspid regurgitation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0009004,Hypoplasia of the musculature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0009465,Ulnar deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000717,Orphanet,1101,ORPHA:1101,28,HP:0200007,Abnormal size of the palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0000453,Choanal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0000528,Anophthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0000625,Eyelid coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0002006,Facial cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0002744,Bilateral cleft lip and palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0004097,Deviation of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0005105,Abnormal nasal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0009906,Aplasia/Hypoplasia of the earlobes,Occasional (29-5%),TAS,,,,,y,y +GARD:0000719,Orphanet,1104,ORPHA:1104,16,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000204,Cleft upper lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000534,Abnormal eyebrow morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0001172,Abnormal thumb morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0001180,Hand oligodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0001215,Camptodactyly of 2nd-5th fingers,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0001572,Macrodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0001830,Postaxial foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0001849,Foot oligodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0001852,Sandal gap,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0002139,Arrhinencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0002814,Abnormality of the lower limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0002817,Abnormality of the upper limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0002982,Tibial bowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0003038,Fibular hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0003042,Elbow dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0005293,Venous insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0005736,Short tibia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0008368,Tarsal synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0009748,Large earlobe,Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0010650,Hypoplasia of the premaxilla,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0011478,True anophthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000722,Orphanet,1106,ORPHA:1106,57,HP:0100240,Synostosis of joints,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000731,Orphanet,79,ORPHA:79,12,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,"[PMID:11472338, PMID:82839]",y,y +GARD:0000731,Orphanet,79,ORPHA:79,12,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,"[PMID:11472338, PMID:82839]",y,y +GARD:0000731,Orphanet,79,ORPHA:79,12,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:11472338, PMID:82839]",y,y +GARD:0000731,Orphanet,79,ORPHA:79,12,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:11472338, PMID:82839]",y,y +GARD:0000731,Orphanet,79,ORPHA:79,12,HP:0001934,Persistent bleeding after trauma,Very frequent (99-80%),TAS,,,,"[PMID:11472338, PMID:82839]",y,y +GARD:0000731,Orphanet,79,ORPHA:79,12,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:11472338, PMID:82839]",y,y +GARD:0000731,Orphanet,79,ORPHA:79,12,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,"[PMID:11472338, PMID:82839]",y,y +GARD:0000731,Orphanet,79,ORPHA:79,12,HP:0005261,Joint hemorrhage,Very frequent (99-80%),TAS,,,,"[PMID:11472338, PMID:82839]",y,y +GARD:0000731,Orphanet,79,ORPHA:79,12,HP:0011884,Abnormal umbilical stump bleeding,Occasional (29-5%),TAS,,,,"[PMID:11472338, PMID:82839]",y,y +GARD:0000731,Orphanet,79,ORPHA:79,12,HP:0012151,Hemothorax,Frequent (79-30%),TAS,,,,"[PMID:11472338, PMID:82839]",y,y +GARD:0000731,Orphanet,79,ORPHA:79,12,HP:0012233,Intramuscular hematoma,Frequent (79-30%),TAS,,,,"[PMID:11472338, PMID:82839]",y,y +GARD:0000731,Orphanet,79,ORPHA:79,12,HP:0040247,Reduced euglobulin clot lysis time,Frequent (79-30%),TAS,,,,"[PMID:11472338, PMID:82839]",y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0000217,Xerostomia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0000969,Edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0001097,Keratoconjunctivitis sicca,Frequent (79-30%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0002206,Pulmonary fibrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0006530,Abnormal pulmonary interstitial morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0100585,Telangiectasia of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0100614,Myositis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0100679,Lack of skin elasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000735,Orphanet,81,ORPHA:81,28,HP:0100749,Chest pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0002623,Overriding aorta,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0002970,Genu varum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0003272,Abnormal hip bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0010669,Hypoplasia of the zygomatic bone,Occasional (29-5%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0012303,Abnormal aortic arch morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000739,Orphanet,1110,ORPHA:1110,23,HP:0100026,Arteriovenous malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0001660,Truncus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0001669,Transposition of the great arteries,Occasional (29-5%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0001712,Left ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0001719,Double outlet right ventricle,Very rare (<4-1%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0001750,Single ventricle,Very rare (<4-1%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0002875,Exertional dyspnea,Occasional (29-5%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0004417,Intermittent claudication,Occasional (29-5%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0010883,Aortic valve atresia,Very rare (<4-1%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0011604,Aortopulmonary window,Occasional (29-5%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0011712,Right bundle branch block,Occasional (29-5%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0020142,Blood pressure substantially higher in arms than legs,Frequent (79-30%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0030148,Heart murmur,Very frequent (99-80%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0030973,Postexertional malaise,Frequent (79-30%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0031273,Shock,Frequent (79-30%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0031664,Systolic heart murmur,Frequent (79-30%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0031784,Abnormal ascending aorta morphology,Occasional (29-5%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0032092,Left ventricular outflow tract obstruction,Very frequent (99-80%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000740,Orphanet,2299,ORPHA:2299,32,HP:0032554,Absent pulse,Very frequent (99-80%),TAS,,,,"[PMID:24457106, PMID:27777532, PMID:29742969, PMID:30422497]",y,y +GARD:0000743,Orphanet,3193,ORPHA:3193,2,HP:0004381,Supravalvular aortic stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000743,Orphanet,3193,ORPHA:3193,2,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000748,Orphanet,1113,ORPHA:1113,14,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000748,Orphanet,1113,ORPHA:1113,14,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000748,Orphanet,1113,ORPHA:1113,14,HP:0001798,Anonychia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000748,Orphanet,1113,ORPHA:1113,14,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,,y,y +GARD:0000748,Orphanet,1113,ORPHA:1113,14,HP:0001802,Absent toenail,Frequent (79-30%),TAS,,,,,y,y +GARD:0000748,Orphanet,1113,ORPHA:1113,14,HP:0001804,Hypoplastic fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000748,Orphanet,1113,ORPHA:1113,14,HP:0001830,Postaxial foot polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000748,Orphanet,1113,ORPHA:1113,14,HP:0001839,Split foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0000748,Orphanet,1113,ORPHA:1113,14,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000748,Orphanet,1113,ORPHA:1113,14,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000748,Orphanet,1113,ORPHA:1113,14,HP:0009773,Symphalangism affecting the phalanges of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0000748,Orphanet,1113,ORPHA:1113,14,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000748,Orphanet,1113,ORPHA:1113,14,HP:0010185,Aplasia/Hypoplasia of the distal phalanges of the toes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000748,Orphanet,1113,ORPHA:1113,14,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000753,Orphanet,1116,ORPHA:1116,13,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000753,Orphanet,1116,ORPHA:1116,13,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000753,Orphanet,1116,ORPHA:1116,13,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000753,Orphanet,1116,ORPHA:1116,13,HP:0001362,Calvarial skull defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000753,Orphanet,1116,ORPHA:1116,13,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000753,Orphanet,1116,ORPHA:1116,13,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,,y,y +GARD:0000753,Orphanet,1116,ORPHA:1116,13,HP:0001928,Abnormality of coagulation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000753,Orphanet,1116,ORPHA:1116,13,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0000753,Orphanet,1116,ORPHA:1116,13,HP:0003075,Hypoproteinemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000753,Orphanet,1116,ORPHA:1116,13,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000753,Orphanet,1116,ORPHA:1116,13,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,,y,y +GARD:0000753,Orphanet,1116,ORPHA:1116,13,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000753,Orphanet,1116,ORPHA:1116,13,HP:0011362,Abnormal hair quantity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000756,Orphanet,1117,ORPHA:1117,11,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,,y,y +GARD:0000756,Orphanet,1117,ORPHA:1117,11,HP:0001057,Aplasia cutis congenita,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000756,Orphanet,1117,ORPHA:1117,11,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000756,Orphanet,1117,ORPHA:1117,11,HP:0001362,Calvarial skull defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000756,Orphanet,1117,ORPHA:1117,11,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,,y,y +GARD:0000756,Orphanet,1117,ORPHA:1117,11,HP:0001928,Abnormality of coagulation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000756,Orphanet,1117,ORPHA:1117,11,HP:0006934,Congenital nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000756,Orphanet,1117,ORPHA:1117,11,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000756,Orphanet,1117,ORPHA:1117,11,HP:0011003,High myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000756,Orphanet,1117,ORPHA:1117,11,HP:0012639,Abnormal nervous system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000756,Orphanet,1117,ORPHA:1117,11,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0000563,Keratoconus,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0000974,Hyperextensible skin,Frequent (79-30%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001119,Keratoglobus,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001582,Redundant skin,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001635,Congestive heart failure,Very frequent (99-80%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001637,Abnormal myocardium morphology,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001695,Cardiac arrest,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0001838,Rocker bottom foot,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0002036,Hiatus hernia,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0002616,Aortic root aneurysm,Very frequent (99-80%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0002617,Vascular dilatation,Very frequent (99-80%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0002647,Aortic dissection,Frequent (79-30%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0002673,Coxa valga,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0002812,Coxa vara,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0004415,Pulmonary artery stenosis,Frequent (79-30%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0004942,Aortic aneurysm,Very frequent (99-80%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0005344,Abnormal carotid artery morphology,Very frequent (99-80%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0006543,Cardiorespiratory arrest,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0007495,Prematurely aged appearance,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0008501,Median cleft lip and palate,Frequent (79-30%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0010668,Abnormal zygomatic bone morphology,Frequent (79-30%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0011302,Long palm,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0012745,Short palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0100541,Femoral hernia,Frequent (79-30%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0100545,Arterial stenosis,Very frequent (99-80%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0100585,Telangiectasia of the skin,Very frequent (99-80%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000774,Orphanet,3342,ORPHA:3342,61,HP:0100633,Esophagitis,Occasional (29-5%),TAS,,,,"[PMID:16550171, PMID:17935213, PMID:20547159]",y,y +GARD:0000784,Orphanet,1144,ORPHA:1144,5,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000784,Orphanet,1144,ORPHA:1144,5,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000784,Orphanet,1144,ORPHA:1144,5,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000784,Orphanet,1144,ORPHA:1144,5,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000784,Orphanet,1144,ORPHA:1144,5,HP:0004326,Cachexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000787,Orphanet,1146,ORPHA:1146,9,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0000787,Orphanet,1146,ORPHA:1146,9,HP:0001181,Adducted thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000787,Orphanet,1146,ORPHA:1146,9,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0000787,Orphanet,1146,ORPHA:1146,9,HP:0001838,Rocker bottom foot,Occasional (29-5%),TAS,,,,,y,y +GARD:0000787,Orphanet,1146,ORPHA:1146,9,HP:0001883,Talipes,Frequent (79-30%),TAS,,,,,y,y +GARD:0000787,Orphanet,1146,ORPHA:1146,9,HP:0003272,Abnormal hip bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000787,Orphanet,1146,ORPHA:1146,9,HP:0009465,Ulnar deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000787,Orphanet,1146,ORPHA:1146,9,HP:0010557,Overlapping fingers,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000787,Orphanet,1146,ORPHA:1146,9,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0001239,Wrist flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0001371,Flexion contracture,Obligate (100%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0001623,Breech presentation,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0001838,Rocker bottom foot,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0002058,Myopathic facies,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0002747,Respiratory insufficiency due to muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0003273,Hip contracture,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0003444,EMG: chronic denervation signs,Very frequent (99-80%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0003484,Upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0006380,Knee flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0006466,Ankle flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0007477,Abnormal dermatoglyphics,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0008110,Equinovarus deformity,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0008807,Acetabular dysplasia,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0010781,Skin dimple,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0030799,Scaphocephaly,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000790,Orphanet,1143,ORPHA:1143,33,HP:0410263,Brain imaging abnormality,Occasional (29-5%),TAS,,,,"[PMID:21345701, PMID:28317099]",y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0000201,Pierre-Robin sequence,Frequent (79-30%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0000346,Whistling appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0000364,Hearing abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0000366,Abnormality of the nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0001181,Adducted thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0003043,Abnormal shoulder morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0010751,Dimple chin,Occasional (29-5%),TAS,,,,,y,y +GARD:0000792,Orphanet,1150,ORPHA:1150,24,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000069,Abnormality of the ureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000100,Nephrotic syndrome,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000311,Round face,Frequent (79-30%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000563,Keratoconus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000615,Abnormal pupil morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0001131,Corneal dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0001396,Cholestasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0003022,Hypoplasia of the ulna,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0003189,Long nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0003298,Spina bifida occulta,Frequent (79-30%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0004617,Butterfly vertebral arch,Frequent (79-30%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0004969,Peripheral pulmonary artery stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0006571,Reduced number of intrahepatic bile ducts,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0012368,Flat face,Occasional (29-5%),TAS,,,,,y,y +GARD:0000804,Orphanet,52,ORPHA:52,43,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000806,Orphanet,2819,ORPHA:2819,9,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000806,Orphanet,2819,ORPHA:2819,9,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000806,Orphanet,2819,ORPHA:2819,9,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000806,Orphanet,2819,ORPHA:2819,9,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000806,Orphanet,2819,ORPHA:2819,9,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000806,Orphanet,2819,ORPHA:2819,9,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000806,Orphanet,2819,ORPHA:2819,9,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000806,Orphanet,2819,ORPHA:2819,9,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000806,Orphanet,2819,ORPHA:2819,9,HP:0010550,Paraplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0000035,Abnormal testis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0000147,Polycystic ovaries,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0000828,Abnormality of the parathyroid gland,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0003118,Increased circulating cortisol level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0004097,Deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0008193,Primary gonadal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000812,Orphanet,1227,ORPHA:1227,21,HP:0100651,Type I diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000813,Orphanet,1228,ORPHA:1228,4,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000813,Orphanet,1228,ORPHA:1228,4,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000813,Orphanet,1228,ORPHA:1228,4,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000813,Orphanet,1228,ORPHA:1228,4,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000143,Rectovaginal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000157,Abnormality of the tongue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000161,Median cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000168,Abnormality of the gingiva,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000176,Submucous cleft hard palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000190,Abnormal oral frenulum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000202,Oral cleft,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000356,Abnormality of the outer ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000453,Choanal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000496,Abnormality of eye movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0000598,Abnormality of the ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0001171,Split hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0001177,Preaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0001367,Abnormal joint morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0001562,Oligohydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0001601,Laryngomalacia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0002970,Genu varum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0004871,Perineal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0005772,Aplasia/Hypoplasia of the tibia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0005944,Bilateral lung agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0008207,Primary adrenal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0009118,Aplasia/Hypoplasia of the mandible,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0010285,Oral synechia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0010469,Absent testis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0010566,Hamartoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0011255,Absent crus of helix,Occasional (29-5%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0011267,"Microtia, third degree",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0011830,Abnormal oral mucosa morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0012157,Subcortical cerebral atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0025023,Rectal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0030868,Monorchism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0100308,Cerebral cortical hemiatrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000816,Orphanet,2753,ORPHA:2753,69,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0000049,Shawl scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0000413,Atresia of the external auditory canal,Occasional (29-5%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0000656,Ectropion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0000974,Hyperextensible skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0002557,Hypoplastic nipples,Frequent (79-30%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0011224,Ablepharon,Occasional (29-5%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0100783,Breast aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000819,Orphanet,1231,ORPHA:1231,23,HP:0200102,Sparse or absent eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0000246,Sinusitis,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0000371,Acute otitis media,Occasional (29-5%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0001260,Dysarthria,Very rare (<4-1%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0001890,Autoimmune hemolytic anemia,Occasional (29-5%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0001904,Neutropenia in presence of anti-neutropil antibodies,Occasional (29-5%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0001973,Autoimmune thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0002066,Gait ataxia,Very rare (<4-1%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0002718,Recurrent bacterial infections,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0002726,Recurrent Staphylococcus aureus infections,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0002728,Chronic mucocutaneous candidiasis,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0002841,Recurrent fungal infections,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0003139,Panhypogammaglobulinemia,Occasional (29-5%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0004385,Protracted diarrhea,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0004429,Recurrent viral infections,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0004798,Recurrent infection of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0005353,Recurrent herpes,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0005354,Lack of T cell function,Very frequent (99-80%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0005368,Abnormality of humoral immunity,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0005386,Recurrent protozoan infections,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0005401,Recurrent candida infections,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0005403,T lymphocytopenia,Occasional (29-5%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0005407,Decreased proportion of CD4-positive helper T cells,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0012384,Rhinitis,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0025347,Decreased circulating beta-2-microglobulin level,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0030991,Sclerosing cholangitis,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0031381,Decreased lymphocyte proliferation in response to mitogen,Occasional (29-5%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0031390,Reduced MHC II surface expression,Obligate (100%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0031394,Abnormal CD4:CD8 ratio,Occasional (29-5%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000824,Orphanet,572,ORPHA:572,38,HP:0200124,Chronic hepatitis due to cryptosporidium infection,Frequent (79-30%),TAS,,,,"[PMID:25001848, PMID:26634365, PMID:28676232]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000336,Prominent supraorbital ridges,Very frequent (99-80%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000410,Mixed hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000481,Abnormal cornea morphology,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000677,Oligodontia,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000912,Sprengel anomaly,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000941,Short diaphyses,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0001220,Interphalangeal joint contracture of finger,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0001239,Wrist flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0001607,Subglottic stenosis,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0002694,Sclerosis of skull base,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0002949,Fused cervical vertebrae,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0002996,Limited elbow movement,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0003016,Metaphyseal widening,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0003083,Dislocated radial head,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0006000,Ureteral obstruction,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0006006,Hypotrophy of the small hand muscles,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0006070,Metacarpophalangeal joint contracture,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0006248,Limited wrist movement,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0006383,Progressive bowing of long bones,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0008081,Pes valgus,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0008661,Urethral stenosis,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0008952,Shoulder muscle hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0009004,Hypoplasia of the musculature,Occasional (29-5%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0009473,Joint contracture of the hand,Very frequent (99-80%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0009487,Ulnar deviation of the hand,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0009650,Short distal phalanx of the thumb,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0009803,Short phalanx of finger,Very frequent (99-80%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0010501,Limitation of knee mobility,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0010505,Limitation of movement at ankles,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0010562,Keloids,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0010743,Short metatarsal,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000826,Orphanet,1826,ORPHA:1826,62,HP:0100807,Long fingers,Very frequent (99-80%),TAS,,,,"[PMID:20301567, PMID:28498505, PMID:29660408]",y,y +GARD:0000835,Orphanet,1875,ORPHA:1875,14,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000835,Orphanet,1875,ORPHA:1875,14,HP:0000137,Abnormality of the ovary,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000835,Orphanet,1875,ORPHA:1875,14,HP:0000298,Mask-like facies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000835,Orphanet,1875,ORPHA:1875,14,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000835,Orphanet,1875,ORPHA:1875,14,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000835,Orphanet,1875,ORPHA:1875,14,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0000835,Orphanet,1875,ORPHA:1875,14,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000835,Orphanet,1875,ORPHA:1875,14,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000835,Orphanet,1875,ORPHA:1875,14,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000835,Orphanet,1875,ORPHA:1875,14,HP:0002967,Cubitus valgus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000835,Orphanet,1875,ORPHA:1875,14,HP:0003741,Congenital muscular dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000835,Orphanet,1875,ORPHA:1875,14,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0000835,Orphanet,1875,ORPHA:1875,14,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0000835,Orphanet,1875,ORPHA:1875,14,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000836,Orphanet,1948,ORPHA:1948,7,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000836,Orphanet,1948,ORPHA:1948,7,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000836,Orphanet,1948,ORPHA:1948,7,HP:0001007,Hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000836,Orphanet,1948,ORPHA:1948,7,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000836,Orphanet,1948,ORPHA:1948,7,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000836,Orphanet,1948,ORPHA:1948,7,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000836,Orphanet,1948,ORPHA:1948,7,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0000889,Abnormal clavicle morphology,Occasional (29-5%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0001056,Milia,Frequent (79-30%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0001167,Abnormality of finger,Occasional (29-5%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0002208,Coarse hair,Very frequent (99-80%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0002671,Basal cell carcinoma,Frequent (79-30%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0003777,Pili torti,Frequent (79-30%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0009886,Trichorrhexis nodosa,Frequent (79-30%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0100720,Hypoplasia of the ear cartilage,Occasional (29-5%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0100777,Exostoses,Occasional (29-5%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000838,Orphanet,113,ORPHA:113,15,HP:0200102,Sparse or absent eyelashes,Frequent (79-30%),TAS,,,,"[PMID:10804303, PMID:21428980]",y,y +GARD:0000842,Orphanet,2206,ORPHA:2206,5,HP:0000925,Abnormality of the vertebral column,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000842,Orphanet,2206,ORPHA:2206,5,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,,y,y +GARD:0000842,Orphanet,2206,ORPHA:2206,5,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000842,Orphanet,2206,ORPHA:2206,5,HP:0002758,Osteoarthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000842,Orphanet,2206,ORPHA:2206,5,HP:0040163,Abnormal pelvis bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000846,Orphanet,1237,ORPHA:1237,13,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000846,Orphanet,1237,ORPHA:1237,13,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000846,Orphanet,1237,ORPHA:1237,13,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000846,Orphanet,1237,ORPHA:1237,13,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000846,Orphanet,1237,ORPHA:1237,13,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000846,Orphanet,1237,ORPHA:1237,13,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000846,Orphanet,1237,ORPHA:1237,13,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000846,Orphanet,1237,ORPHA:1237,13,HP:0001334,Communicating hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000846,Orphanet,1237,ORPHA:1237,13,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000846,Orphanet,1237,ORPHA:1237,13,HP:0002002,Deep philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000846,Orphanet,1237,ORPHA:1237,13,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000846,Orphanet,1237,ORPHA:1237,13,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000846,Orphanet,1237,ORPHA:1237,13,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0000155,Oral ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001061,Acne,Frequent (79-30%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001097,Keratoconjunctivitis sicca,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001269,Hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001287,Meningitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001637,Abnormal myocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002076,Migraine,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002102,Pleuritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002113,Pulmonary infiltrates,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002239,Gastrointestinal hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002633,Vasculitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002637,Cerebral ischemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0004420,Arterial thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0004936,Venous thrombosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0011107,Recurrent aphthous stomatitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0012649,Increased inflammatory response,Frequent (79-30%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0100326,Immunologic hypersensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0100584,Endocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0100614,Myositis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0100653,Optic neuritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0100654,Retrobulbar optic neuritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0100796,Orchitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0100820,Glomerulopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000848,Orphanet,117,ORPHA:117,68,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0002104,Apnea,Frequent (79-30%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0002133,Status epilepticus,Very rare (<4-1%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0002266,Focal clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0002361,Psychomotor deterioration,Excluded (0%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0002372,Normal interictal EEG,Very frequent (99-80%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0002384,Focal impaired awareness seizure,Frequent (79-30%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0007334,Bilateral tonic-clonic seizure with focal onset,Frequent (79-30%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0010818,Generalized tonic seizure,Frequent (79-30%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0011153,Focal motor seizure,Frequent (79-30%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0011167,Focal tonic seizure,Frequent (79-30%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0011169,Generalized clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0011171,Simple febrile seizure,Very rare (<4-1%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0011182,Interictal epileptiform activity,Very rare (<4-1%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0045084,Limb myoclonus,Occasional (29-5%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000857,Orphanet,306,ORPHA:306,20,HP:0410263,Brain imaging abnormality,Excluded (0%),TAS,,,,"[PMID:25658216, PMID:26598493, PMID:29334453, PMID:29764460]",y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0000035,Abnormal testis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000860,Orphanet,1548,ORPHA:1548,17,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0002795,Abnormal respiratory system physiology,Very frequent (99-80%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0005607,Abnormal tracheobronchial morphology,Frequent (79-30%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0006516,Hypersensitivity pneumonitis,Very frequent (99-80%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0006527,Lymphocytic interstitial pneumonia,Frequent (79-30%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0011121,Abnormality of skin morphology,Very rare (<4-1%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0025179,Ground-glass opacification,Frequent (79-30%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0025393,Reticulonodular pattern on pulmonary HRCT,Frequent (79-30%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0025439,Pharyngitis,Frequent (79-30%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0030877,Reduced FEV1/FVC ratio,Frequent (79-30%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0030878,Abnormality on pulmonary function testing,Frequent (79-30%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0031392,Abnormal proportion of CD4-positive T cells,Frequent (79-30%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0100326,Immunologic hypersensitivity,Very frequent (99-80%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000867,Orphanet,133,ORPHA:133,19,HP:0100721,Mediastinal lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:20981472, PMID:25007084, PMID:32768458]",y,y +GARD:0000869,Orphanet,118,ORPHA:118,6,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000869,Orphanet,118,ORPHA:118,6,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000869,Orphanet,118,ORPHA:118,6,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000869,Orphanet,118,ORPHA:118,6,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000869,Orphanet,118,ORPHA:118,6,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000869,Orphanet,118,ORPHA:118,6,HP:0005247,Hypoplasia of the abdominal wall musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0000929,Abnormal skull morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0001935,Microcytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0004370,Abnormality of temperature regulation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0011031,Abnormality of iron homeostasis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0011902,Abnormal hemoglobin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000871,Orphanet,848,ORPHA:848,21,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0000713,Agitation,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001256,"Intellectual disability, mild",Very rare (<4-1%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001259,Coma,Frequent (79-30%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001262,Excessive daytime somnolence,Frequent (79-30%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001894,Thrombocytosis,Frequent (79-30%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001941,Acidosis,Very frequent (99-80%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001944,Dehydration,Frequent (79-30%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0001993,Ketoacidosis,Frequent (79-30%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0002149,Hyperuricemia,Very frequent (99-80%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0002151,Increased serum lactate,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0002789,Tachypnea,Very frequent (99-80%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0002919,Ketonuria,Very frequent (99-80%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0003074,Hyperglycemia,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0004372,Reduced consciousness/confusion,Frequent (79-30%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0007308,Extrapyramidal dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0010864,"Intellectual disability, severe",Very rare (<4-1%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0011446,Abnormality of higher mental function,Very frequent (99-80%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0012523,Oral aversion,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0012705,Abnormal metabolic brain imaging by MRS,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000872,Orphanet,134,ORPHA:134,42,HP:0500001,Body odor,Occasional (29-5%),TAS,,,,"[PMID:28220263, PMID:28689740, PMID:4143539, PMID:4812006, PMID:9700610]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0000467,Neck muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0001073,Cigarette-paper scars,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0001220,Interphalangeal joint contracture of finger,Frequent (79-30%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0001239,Wrist flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0001382,Joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0001771,Achilles tendon contracture,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0002791,Hypoventilation,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0002828,Multiple joint contractures,Frequent (79-30%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0003306,Spinal rigidity,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0003325,Limb-girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0003327,Axial muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0003391,Gowers sign,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0003458,EMG: myopathic abnormalities,Very frequent (99-80%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0003560,Muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0003691,Scapular winging,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0003700,Generalized amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0003731,Quadriceps muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0003805,Rimmed vacuoles,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0006466,Ankle flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0009027,Foot dorsiflexor weakness,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0009058,Increased muscle lipid content,Frequent (79-30%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0009073,Progressive proximal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0010176,Curved toe phalanx,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0012497,Reduced maximal expiratory pressure,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0030095,Reduced muscle collagen VI,Very frequent (99-80%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0032152,Keratosis pilaris,Occasional (29-5%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000873,Orphanet,610,ORPHA:610,39,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,"[PMID:30706156, PMID:31471117]",y,y +GARD:0000882,Orphanet,141333,ORPHA:141333,12,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:13109178, PMID:9098485]",y,y +GARD:0000882,Orphanet,141333,ORPHA:141333,12,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,"[PMID:13109178, PMID:9098485]",y,y +GARD:0000882,Orphanet,141333,ORPHA:141333,12,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:13109178, PMID:9098485]",y,y +GARD:0000882,Orphanet,141333,ORPHA:141333,12,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,"[PMID:13109178, PMID:9098485]",y,y +GARD:0000882,Orphanet,141333,ORPHA:141333,12,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,"[PMID:13109178, PMID:9098485]",y,y +GARD:0000882,Orphanet,141333,ORPHA:141333,12,HP:0000589,Coloboma,Very frequent (99-80%),TAS,,,,"[PMID:13109178, PMID:9098485]",y,y +GARD:0000882,Orphanet,141333,ORPHA:141333,12,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:13109178, PMID:9098485]",y,y +GARD:0000882,Orphanet,141333,ORPHA:141333,12,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:13109178, PMID:9098485]",y,y +GARD:0000882,Orphanet,141333,ORPHA:141333,12,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,"[PMID:13109178, PMID:9098485]",y,y +GARD:0000882,Orphanet,141333,ORPHA:141333,12,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:13109178, PMID:9098485]",y,y +GARD:0000882,Orphanet,141333,ORPHA:141333,12,HP:0005321,Mandibulofacial dysostosis,Very frequent (99-80%),TAS,,,,"[PMID:13109178, PMID:9098485]",y,y +GARD:0000882,Orphanet,141333,ORPHA:141333,12,HP:0100258,Preaxial polydactyly,Very frequent (99-80%),TAS,,,,"[PMID:13109178, PMID:9098485]",y,y +GARD:0000884,Orphanet,2695,ORPHA:2695,2,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000884,Orphanet,2695,ORPHA:2695,2,HP:0011803,Bifid nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000954,Single transverse palmar crease,Frequent (79-30%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0001525,Severe failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0001636,Tetralogy of Fallot,Frequent (79-30%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0001642,Pulmonic stenosis,Frequent (79-30%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0001719,Double outlet right ventricle,Frequent (79-30%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0002179,Opisthotonus,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0002187,"Intellectual disability, profound",Very frequent (99-80%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0002623,Overriding aorta,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0004691,2-3 toe syndactyly,Frequent (79-30%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0005278,Hypoplastic nasal tip,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0005301,Persistent left superior vena cava,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0007687,Unilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0011335,Frontal hirsutism,Frequent (79-30%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0100759,Clubbing of fingers,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000893,Orphanet,3304,ORPHA:3304,33,HP:0100760,Clubbing of toes,Occasional (29-5%),TAS,,,,"[PMID:15578610, PMID:8010348]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0000575,Scotoma,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0000976,Eczematoid dermatitis,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0001138,Optic neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0001992,Organic aciduria,Very frequent (99-80%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0002196,Myelopathy,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0002715,Abnormality of the immune system,Frequent (79-30%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0002841,Recurrent fungal infections,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0002883,Hyperventilation,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0003690,Limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0004429,Recurrent viral infections,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0005401,Recurrent candida infections,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0005979,Metabolic ketoacidosis,Very frequent (99-80%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0006511,Laryngeal stridor,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0011153,Focal motor seizure,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0025356,Psychomotor retardation,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0200068,Nonprogressive visual loss,Occasional (29-5%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0410145,Decreased biotinidase level,Very frequent (99-80%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000894,Orphanet,79241,ORPHA:79241,38,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301497, PMID:30746739]",y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0002293,Alopecia of scalp,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0003422,Vertebral segmentation defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0004399,Congenital pyloric atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0009721,Shagreen patch,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0010807,Open bite,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0011362,Abnormal hair quantity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000895,Orphanet,2617,ORPHA:2617,30,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0000085,Horseshoe kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0000456,Bifid nasal tip,Occasional (29-5%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0003393,Thenar muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0004736,Crossed fused renal ectopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0008501,Median cleft lip and palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000897,Orphanet,2213,ORPHA:2213,15,HP:0011803,Bifid nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0000905,Orphanet,2057,ORPHA:2057,13,HP:0000179,Thick lower lip vermilion,Occasional (29-5%),TAS,,,,,y,y +GARD:0000905,Orphanet,2057,ORPHA:2057,13,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000905,Orphanet,2057,ORPHA:2057,13,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000905,Orphanet,2057,ORPHA:2057,13,HP:0000458,Anosmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000905,Orphanet,2057,ORPHA:2057,13,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000905,Orphanet,2057,ORPHA:2057,13,HP:0000565,Esotropia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000905,Orphanet,2057,ORPHA:2057,13,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000905,Orphanet,2057,ORPHA:2057,13,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000905,Orphanet,2057,ORPHA:2057,13,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000905,Orphanet,2057,ORPHA:2057,13,HP:0001291,Abnormal cranial nerve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000905,Orphanet,2057,ORPHA:2057,13,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000905,Orphanet,2057,ORPHA:2057,13,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000905,Orphanet,2057,ORPHA:2057,13,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,,y,y +GARD:0000912,Orphanet,1259,ORPHA:1259,10,HP:0000269,Prominent occiput,Occasional (29-5%),TAS,,,,,y,y +GARD:0000912,Orphanet,1259,ORPHA:1259,10,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000912,Orphanet,1259,ORPHA:1259,10,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000912,Orphanet,1259,ORPHA:1259,10,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000912,Orphanet,1259,ORPHA:1259,10,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0000912,Orphanet,1259,ORPHA:1259,10,HP:0001083,Ectopia lentis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000912,Orphanet,1259,ORPHA:1259,10,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000912,Orphanet,1259,ORPHA:1259,10,HP:0011039,Abnormal helix morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000912,Orphanet,1259,ORPHA:1259,10,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0000912,Orphanet,1259,ORPHA:1259,10,HP:0100798,Fingernail dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0000695,Natal tooth,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0000773,Short ribs,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0000916,Broad clavicles,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0001538,Protuberant abdomen,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0001789,Hydrops fetalis,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0002089,Pulmonary hypoplasia,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0003015,Flared metaphysis,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0003021,Metaphyseal cupping,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0005716,Lethal skeletal dysplasia,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0006402,Distal shortening of limbs,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0006487,Bowing of the long bones,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0006660,Aplastic clavicle,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0008921,Neonatal short-limb short stature,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0010808,Protruding tongue,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000914,Orphanet,50945,ORPHA:50945,37,HP:0100240,Synostosis of joints,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:10664159]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000027,Azoospermia,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000388,Otitis media,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000488,Retinopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000653,Sparse eyelashes,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000798,Oligospermia,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000855,Insulin resistance,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000957,Cafe-au-lait spot,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0001009,Telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0001029,Poikiloderma,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0001818,Paronychia,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0002232,Patchy alopecia,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0002664,Neoplasm,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0002667,Nephroblastoma,Very rare (<4-1%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0002715,Abnormality of the immune system,Very frequent (99-80%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0002720,Decreased circulating IgA level,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0002850,Decreased circulating total IgM,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0002878,Respiratory failure,Very rare (<4-1%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0003251,Male infertility,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0004315,Decreased circulating IgG level,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0004808,Acute myeloid leukemia,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0005353,Recurrent herpes,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0006510,Chronic pulmonary obstruction,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0006721,Acute lymphoblastic leukemia,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0006758,Malignant genitourinary tract tumor,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0008209,Premature ovarian insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0008850,Severe postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0008887,Adipose tissue loss,Very frequent (99-80%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0011110,Recurrent tonsillitis,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0011947,Respiratory tract infection,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0012126,Stomach cancer,Very rare (<4-1%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0012384,Rhinitis,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0012387,Bronchitis,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0012743,Abdominal obesity,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0020105,Severe toxoplasmosis,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0025615,Abscess,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0031123,Recurrent gastroenteritis,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0031393,Abnormal proportion of CD8-positive T cells,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0032170,Severe varicella zoster infection,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0032218,Decreased proportion of CD4-positive T cells,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0040195,Decreased head circumference,Frequent (79-30%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0100013,Neoplasm of the breast,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0100273,Neoplasm of the colon,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0100751,Esophageal neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000915,Orphanet,125,ORPHA:125,67,HP:0100825,Cheilitis,Occasional (29-5%),TAS,,,,"[PMID:20301572, PMID:29056561, PMID:29098565]",y,y +GARD:0000916,Orphanet,2768,ORPHA:2768,5,HP:0002815,Abnormality of the knee,Frequent (79-30%),TAS,,,,"[PMID:13475409, PMID:2281773, PMID:25435033]",y,y +GARD:0000916,Orphanet,2768,ORPHA:2768,5,HP:0002982,Tibial bowing,Very frequent (99-80%),TAS,,,,"[PMID:13475409, PMID:2281773, PMID:25435033]",y,y +GARD:0000916,Orphanet,2768,ORPHA:2768,5,HP:0006491,Abnormality of the tibial metaphysis,Frequent (79-30%),TAS,,,,"[PMID:13475409, PMID:2281773, PMID:25435033]",y,y +GARD:0000916,Orphanet,2768,ORPHA:2768,5,HP:0010591,Abnormality of the proximal tibial epiphysis,Frequent (79-30%),TAS,,,,"[PMID:13475409, PMID:2281773, PMID:25435033]",y,y +GARD:0000916,Orphanet,2768,ORPHA:2768,5,HP:0040188,Osteochondrosis,Frequent (79-30%),TAS,,,,"[PMID:13475409, PMID:2281773, PMID:25435033]",y,y +GARD:0000917,Orphanet,16,ORPHA:16,6,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000917,Orphanet,16,ORPHA:16,6,HP:0000512,Abnormal electroretinogram,Occasional (29-5%),TAS,,,,,y,y +GARD:0000917,Orphanet,16,ORPHA:16,6,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000917,Orphanet,16,ORPHA:16,6,HP:0001131,Corneal dystrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000917,Orphanet,16,ORPHA:16,6,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0000917,Orphanet,16,ORPHA:16,6,HP:0007939,Blue cone monochromacy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0001800,Hypoplastic toenails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0001802,Absent toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0001804,Hypoplastic fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0001817,Absent fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0001857,Short distal phalanx of toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0008398,Hypoplastic fifth fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0009773,Symphalangism affecting the phalanges of the hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0009890,High anterior hairline,Occasional (29-5%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0100797,Toenail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000918,Orphanet,1292,ORPHA:1292,38,HP:0100798,Fingernail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0000364,Hearing abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0000773,Short ribs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0000940,Abnormal diaphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0001172,Abnormal thumb morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0001591,Bell-shaped thorax,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0002823,Abnormality of femur morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0005989,Redundant neck skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0008890,Severe short-limb dwarfism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0100255,Metaphyseal dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000922,Orphanet,1842,ORPHA:1842,39,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000932,Orphanet,1262,ORPHA:1262,10,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000932,Orphanet,1262,ORPHA:1262,10,HP:0000189,Narrow palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0000932,Orphanet,1262,ORPHA:1262,10,HP:0000534,Abnormal eyebrow morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000932,Orphanet,1262,ORPHA:1262,10,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000932,Orphanet,1262,ORPHA:1262,10,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000932,Orphanet,1262,ORPHA:1262,10,HP:0001804,Hypoplastic fingernail,Frequent (79-30%),TAS,,,,,y,y +GARD:0000932,Orphanet,1262,ORPHA:1262,10,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000932,Orphanet,1262,ORPHA:1262,10,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0000932,Orphanet,1262,ORPHA:1262,10,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0000932,Orphanet,1262,ORPHA:1262,10,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0000824,Decreased response to growth hormone stimulation test,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0001539,Omphalocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0001789,Hydrops fetalis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0002818,Abnormality of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0002823,Abnormality of femur morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0002992,Abnormality of tibia morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0002997,Abnormality of the ulna,Occasional (29-5%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0003063,Abnormality of the humerus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0006492,Aplasia/Hypoplasia of the fibula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0006703,Aplasia/Hypoplasia of the lungs,Frequent (79-30%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0008890,Severe short-limb dwarfism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0011849,Abnormal bone ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0100569,Abnormally ossified vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000933,Orphanet,1263,ORPHA:1263,21,HP:0100856,Poorly ossified vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000046,Small scrotum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000336,Prominent supraorbital ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0001769,Broad foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0001831,Short toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0001836,Camptodactyly of toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0001956,Truncal obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0003272,Abnormal hip bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0009748,Large earlobe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000936,Orphanet,127,ORPHA:127,34,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0000938,Orphanet,1264,ORPHA:1264,10,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000938,Orphanet,1264,ORPHA:1264,10,HP:0000677,Oligodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000938,Orphanet,1264,ORPHA:1264,10,HP:0001118,Juvenile cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000938,Orphanet,1264,ORPHA:1264,10,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0000938,Orphanet,1264,ORPHA:1264,10,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000938,Orphanet,1264,ORPHA:1264,10,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000938,Orphanet,1264,ORPHA:1264,10,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000938,Orphanet,1264,ORPHA:1264,10,HP:0010047,Short 5th metacarpal,Occasional (29-5%),TAS,,,,,y,y +GARD:0000938,Orphanet,1264,ORPHA:1264,10,HP:0011069,Supernumerary tooth,Frequent (79-30%),TAS,,,,,y,y +GARD:0000938,Orphanet,1264,ORPHA:1264,10,HP:0030056,Uncombable hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0000016,Urinary retention,Frequent (79-30%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0000217,Xerostomia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0000651,Diplopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0006597,Diaphragmatic paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0009113,Diaphragmatic weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0010547,Muscle flaccidity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0011499,Mydriasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000943,Orphanet,1267,ORPHA:1267,18,HP:0100021,Cerebral palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000944,Orphanet,1180,ORPHA:1180,3,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000944,Orphanet,1180,ORPHA:1180,3,HP:0001135,Chorioretinal dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000944,Orphanet,1180,ORPHA:1180,3,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000953,Orphanet,2292,ORPHA:2292,2,HP:0003307,Hyperlordosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000953,Orphanet,2292,ORPHA:2292,2,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000042,Absent external genitalia,Very rare (<4-1%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000071,Ureteral stenosis,Occasional (29-5%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000176,Submucous cleft hard palate,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000193,Bifid uvula,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000307,Pointed chin,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000410,Mixed hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000607,Periorbital wrinkles,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000625,Eyelid coloboma,Occasional (29-5%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0000808,Penoscrotal hypospadias,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0001537,Umbilical hernia,Very rare (<4-1%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0001545,Anteriorly placed anus,Very rare (<4-1%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0002561,Absent nipple,Very rare (<4-1%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0002679,Abnormal sella turcica morphology,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0002684,Thickened calvaria,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0002836,Bladder exstrophy,Very rare (<4-1%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0003319,Abnormality of the cervical spine,Frequent (79-30%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0003423,Thoracolumbar kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0006480,Premature loss of teeth,Frequent (79-30%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0008516,Abnormality of the vertebral spinous processes,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0009748,Large earlobe,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0009814,Upper limb peromelia,Very rare (<4-1%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0009818,Amelia involving the lower limbs,Very rare (<4-1%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0009907,Attached earlobe,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0010299,Abnormal dentin morphology,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0010724,Advanced pneumatization of the mastoid process,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0010749,Blepharochalasis,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0011072,Rootless teeth,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0100334,Unilateral cleft palate,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000955,Orphanet,1299,ORPHA:1299,55,HP:0430026,Abnormality of the shape of the midface,Very frequent (99-80%),TAS,,,,"[PMID:20949527, PMID:5141271, PMID:6575818, PMID:7625440]",y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000049,Shawl scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000311,Round face,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000349,Widow's peak,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0004467,Preauricular pit,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0006288,Advanced eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0010458,Female pseudohermaphroditism,Occasional (29-5%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0010751,Dimple chin,Occasional (29-5%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0011039,Abnormal helix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0000957,Orphanet,1519,ORPHA:1519,39,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000239,Large fontanelles,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000270,Delayed cranial suture closure,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000402,Stenosis of the external auditory canal,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000485,Megalocornea,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000519,Developmental cataract,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000586,Shallow orbits,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000677,Oligodontia,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000765,Abnormal thorax morphology,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0001488,Bilateral ptosis,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0001838,Rocker bottom foot,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0002680,J-shaped sella turcica,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0002974,Radioulnar synostosis,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0003187,Breast hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0005487,Prominent metopic ridge,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0005815,Supernumerary ribs,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0007099,Chiari type I malformation,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0011333,Asymmetric crying face,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0012385,Camptodactyly,Frequent (79-30%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0012770,Reduced arm span,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000958,Orphanet,1272,ORPHA:1272,66,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:17935251, PMID:19251507, PMID:19396831, PMID:25865493]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0001831,Short toe,Very frequent (99-80%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0002654,Multiple epiphyseal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0002960,Autoimmunity,Excluded (0%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0003019,Abnormality of the wrist,Frequent (79-30%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0003028,Abnormality of the ankles,Very frequent (99-80%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0003179,Protrusio acetabuli,Occasional (29-5%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0003368,Abnormal femoral head morphology,Very frequent (99-80%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0003940,Osteoarthritis of the elbow,Frequent (79-30%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0005086,Knee osteoarthritis,Very frequent (99-80%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0005872,Brachytelomesophalangy,Very frequent (99-80%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0008843,Hip osteoarthritis,Very frequent (99-80%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0009742,Stiff shoulders,Frequent (79-30%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0012649,Increased inflammatory response,Excluded (0%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000960,Orphanet,2619,ORPHA:2619,19,HP:0032153,Joint subluxation,Frequent (79-30%),TAS,,,,"[PMID:20471895, PMID:8362904]",y,y +GARD:0000966,Orphanet,1275,ORPHA:1275,11,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000966,Orphanet,1275,ORPHA:1275,11,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000966,Orphanet,1275,ORPHA:1275,11,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000966,Orphanet,1275,ORPHA:1275,11,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000966,Orphanet,1275,ORPHA:1275,11,HP:0002997,Abnormality of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000966,Orphanet,1275,ORPHA:1275,11,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000966,Orphanet,1275,ORPHA:1275,11,HP:0003063,Abnormality of the humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000966,Orphanet,1275,ORPHA:1275,11,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000966,Orphanet,1275,ORPHA:1275,11,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000966,Orphanet,1275,ORPHA:1275,11,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000966,Orphanet,1275,ORPHA:1275,11,HP:0009832,Abnormal distal phalanx morphology of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000967,Orphanet,1276,ORPHA:1276,5,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000967,Orphanet,1276,ORPHA:1276,5,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000967,Orphanet,1276,ORPHA:1276,5,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000967,Orphanet,1276,ORPHA:1276,5,HP:0009803,Short phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000967,Orphanet,1276,ORPHA:1276,5,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000972,Orphanet,1278,ORPHA:1278,13,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000972,Orphanet,1278,ORPHA:1278,13,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000972,Orphanet,1278,ORPHA:1278,13,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0000972,Orphanet,1278,ORPHA:1278,13,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0000972,Orphanet,1278,ORPHA:1278,13,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0000972,Orphanet,1278,ORPHA:1278,13,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000972,Orphanet,1278,ORPHA:1278,13,HP:0001177,Preaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0000972,Orphanet,1278,ORPHA:1278,13,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0000972,Orphanet,1278,ORPHA:1278,13,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0000972,Orphanet,1278,ORPHA:1278,13,HP:0004059,Radial club hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000972,Orphanet,1278,ORPHA:1278,13,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000972,Orphanet,1278,ORPHA:1278,13,HP:0010743,Short metatarsal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000972,Orphanet,1278,ORPHA:1278,13,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000978,Orphanet,93388,ORPHA:93388,12,HP:0001204,Distal symphalangism of hands,Occasional (29-5%),TAS,,,,,y,y +GARD:0000978,Orphanet,93388,ORPHA:93388,12,HP:0001230,Broad metacarpals,Occasional (29-5%),TAS,,,,,y,y +GARD:0000978,Orphanet,93388,ORPHA:93388,12,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000978,Orphanet,93388,ORPHA:93388,12,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000978,Orphanet,93388,ORPHA:93388,12,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0000978,Orphanet,93388,ORPHA:93388,12,HP:0003022,Hypoplasia of the ulna,Occasional (29-5%),TAS,,,,,y,y +GARD:0000978,Orphanet,93388,ORPHA:93388,12,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0000978,Orphanet,93388,ORPHA:93388,12,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000978,Orphanet,93388,ORPHA:93388,12,HP:0005819,Short middle phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000978,Orphanet,93388,ORPHA:93388,12,HP:0009778,Short thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000978,Orphanet,93388,ORPHA:93388,12,HP:0010109,Short hallux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000978,Orphanet,93388,ORPHA:93388,12,HP:0010579,Cone-shaped epiphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0000979,Orphanet,93396,ORPHA:93396,7,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,[PMID:18554391],y,y +GARD:0000979,Orphanet,93396,ORPHA:93396,7,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,[PMID:18554391],y,y +GARD:0000979,Orphanet,93396,ORPHA:93396,7,HP:0004220,Short middle phalanx of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:18554391],y,y +GARD:0000979,Orphanet,93396,ORPHA:93396,7,HP:0005819,Short middle phalanx of finger,Occasional (29-5%),TAS,,,,[PMID:18554391],y,y +GARD:0000979,Orphanet,93396,ORPHA:93396,7,HP:0009372,Type A2 brachydactyly,Very frequent (99-80%),TAS,,,,[PMID:18554391],y,y +GARD:0000979,Orphanet,93396,ORPHA:93396,7,HP:0009568,Aplasia/Hypoplasia of the middle phalanx of the 2nd finger,Occasional (29-5%),TAS,,,,[PMID:18554391],y,y +GARD:0000979,Orphanet,93396,ORPHA:93396,7,HP:0010038,Short 2nd metacarpal,Occasional (29-5%),TAS,,,,[PMID:18554391],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0001822,Hallux valgus,Frequent (79-30%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0004691,2-3 toe syndactyly,Frequent (79-30%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0008096,Medially deviated second toe,Occasional (29-5%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0009464,Ulnar deviation of the 2nd finger,Occasional (29-5%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0009467,Radial deviation of the 2nd finger,Occasional (29-5%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0009523,Triangular epiphysis of the middle phalanx of the 2nd finger,Occasional (29-5%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0009536,Short 2nd finger,Occasional (29-5%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0009576,Absent middle phalanx of 2nd finger,Occasional (29-5%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0009642,Broad distal phalanx of the thumb,Occasional (29-5%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0009700,Finger symphalangism,Occasional (29-5%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0009843,Aplasia/Hypoplasia of the middle phalanges of the hand,Frequent (79-30%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0010109,Short hallux,Frequent (79-30%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0010348,Broad phalanges of the 2nd toe,Occasional (29-5%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,[PMID:2714013],y,y +GARD:0000984,Orphanet,93397,ORPHA:93397,17,HP:0100394,Short middle phalanx of the 5th toe,Occasional (29-5%),TAS,,,,[PMID:2714013],y,y +GARD:0000985,Orphanet,93383,ORPHA:93383,10,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,[PMID:18554391],y,y +GARD:0000985,Orphanet,93383,ORPHA:93383,10,HP:0001817,Absent fingernail,Very frequent (99-80%),TAS,,,,[PMID:18554391],y,y +GARD:0000985,Orphanet,93383,ORPHA:93383,10,HP:0005048,Synostosis of carpal bones,Occasional (29-5%),TAS,,,,[PMID:18554391],y,y +GARD:0000985,Orphanet,93383,ORPHA:93383,10,HP:0005831,Type B brachydactyly,Very frequent (99-80%),TAS,,,,[PMID:18554391],y,y +GARD:0000985,Orphanet,93383,ORPHA:93383,10,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,[PMID:18554391],y,y +GARD:0000985,Orphanet,93383,ORPHA:93383,10,HP:0008083,2nd-5th toe middle phalangeal hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:18554391],y,y +GARD:0000985,Orphanet,93383,ORPHA:93383,10,HP:0009773,Symphalangism affecting the phalanges of the hand,Occasional (29-5%),TAS,,,,[PMID:18554391],y,y +GARD:0000985,Orphanet,93383,ORPHA:93383,10,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,[PMID:18554391],y,y +GARD:0000985,Orphanet,93383,ORPHA:93383,10,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,[PMID:18554391],y,y +GARD:0000985,Orphanet,93383,ORPHA:93383,10,HP:0010059,Broad hallux phalanx,Occasional (29-5%),TAS,,,,[PMID:18554391],y,y +GARD:0000986,Orphanet,93384,ORPHA:93384,14,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,[PMID:18554391],y,y +GARD:0000986,Orphanet,93384,ORPHA:93384,14,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:18554391],y,y +GARD:0000986,Orphanet,93384,ORPHA:93384,14,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:18554391],y,y +GARD:0000986,Orphanet,93384,ORPHA:93384,14,HP:0005819,Short middle phalanx of finger,Very frequent (99-80%),TAS,,,,[PMID:18554391],y,y +GARD:0000986,Orphanet,93384,ORPHA:93384,14,HP:0009373,Type C brachydactyly,Very frequent (99-80%),TAS,,,,[PMID:18554391],y,y +GARD:0000986,Orphanet,93384,ORPHA:93384,14,HP:0009465,Ulnar deviation of finger,Very frequent (99-80%),TAS,,,,[PMID:18554391],y,y +GARD:0000986,Orphanet,93384,ORPHA:93384,14,HP:0009495,Pseudoepiphysis of the 2nd finger,Very frequent (99-80%),TAS,,,,[PMID:18554391],y,y +GARD:0000986,Orphanet,93384,ORPHA:93384,14,HP:0009606,Complete duplication of distal phalanx of the thumb,Frequent (79-30%),TAS,,,,[PMID:18554391],y,y +GARD:0000986,Orphanet,93384,ORPHA:93384,14,HP:0009684,Stippling of the epiphysis of the distal phalanx of the thumb,Frequent (79-30%),TAS,,,,[PMID:18554391],y,y +GARD:0000986,Orphanet,93384,ORPHA:93384,14,HP:0009773,Symphalangism affecting the phalanges of the hand,Occasional (29-5%),TAS,,,,[PMID:18554391],y,y +GARD:0000986,Orphanet,93384,ORPHA:93384,14,HP:0010026,Aplasia/Hypoplasia of the 1st metacarpal,Very frequent (99-80%),TAS,,,,[PMID:18554391],y,y +GARD:0000986,Orphanet,93384,ORPHA:93384,14,HP:0010508,Metatarsus valgus,Occasional (29-5%),TAS,,,,[PMID:18554391],y,y +GARD:0000986,Orphanet,93384,ORPHA:93384,14,HP:0010579,Cone-shaped epiphysis,Frequent (79-30%),TAS,,,,[PMID:18554391],y,y +GARD:0000986,Orphanet,93384,ORPHA:93384,14,HP:0010743,Short metatarsal,Frequent (79-30%),TAS,,,,[PMID:18554391],y,y +GARD:0000987,Orphanet,93387,ORPHA:93387,10,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0000987,Orphanet,93387,ORPHA:93387,10,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0000987,Orphanet,93387,ORPHA:93387,10,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000987,Orphanet,93387,ORPHA:93387,10,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0000987,Orphanet,93387,ORPHA:93387,10,HP:0005863,Type E brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000987,Orphanet,93387,ORPHA:93387,10,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0000987,Orphanet,93387,ORPHA:93387,10,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000987,Orphanet,93387,ORPHA:93387,10,HP:0010076,Aplasia/Hypoplasia of the distal phalanx of the hallux,Occasional (29-5%),TAS,,,,,y,y +GARD:0000987,Orphanet,93387,ORPHA:93387,10,HP:0010743,Short metatarsal,Occasional (29-5%),TAS,,,,,y,y +GARD:0000987,Orphanet,93387,ORPHA:93387,10,HP:0100560,Upper limb asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0000990,Orphanet,93394,ORPHA:93394,6,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,,y,y +GARD:0000990,Orphanet,93394,ORPHA:93394,6,HP:0004220,Short middle phalanx of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000990,Orphanet,93394,ORPHA:93394,6,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0000990,Orphanet,93394,ORPHA:93394,6,HP:0006239,Shortening of all middle phalanges of the toes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000990,Orphanet,93394,ORPHA:93394,6,HP:0009577,Short middle phalanx of the 2nd finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000990,Orphanet,93394,ORPHA:93394,6,HP:0009773,Symphalangism affecting the phalanges of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0000998,Orphanet,1538,ORPHA:1538,11,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000998,Orphanet,1538,ORPHA:1538,11,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000998,Orphanet,1538,ORPHA:1538,11,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000998,Orphanet,1538,ORPHA:1538,11,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000998,Orphanet,1538,ORPHA:1538,11,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0000998,Orphanet,1538,ORPHA:1538,11,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000998,Orphanet,1538,ORPHA:1538,11,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0000998,Orphanet,1538,ORPHA:1538,11,HP:0001305,Dandy-Walker malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000998,Orphanet,1538,ORPHA:1538,11,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000998,Orphanet,1538,ORPHA:1538,11,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0000998,Orphanet,1538,ORPHA:1538,11,HP:0005472,Orbital craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000465,Webbed neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0004414,Abnormality of the pulmonary artery,Occasional (29-5%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0009794,Branchial anomaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0100555,Asymmetric growth,Occasional (29-5%),TAS,,,,,y,y +GARD:0001002,Orphanet,1131,ORPHA:1131,24,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000239,Large fontanelles,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000269,Prominent occiput,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000410,Mixed hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000689,Dental malocclusion,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000703,Dentinogenesis imperfecta,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000883,Thin ribs,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000973,Cutis laxa,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0001342,Cerebral hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0001634,Mitral valve prolapse,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0001659,Aortic regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0001730,Progressive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002011,Morphological central nervous system abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002089,Pulmonary hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002150,Hypercalciuria,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002273,Tetraparesis,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002315,Headache,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002512,Brain stem compression,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002616,Aortic root aneurysm,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002643,Neonatal respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002645,Wormian bones,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002647,Aortic dissection,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002653,Bone pain,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002659,Increased susceptibility to fractures,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002823,Abnormality of femur morphology,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002947,Cervical kyphosis,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002953,Vertebral compression fracture,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002980,Femoral bowing,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002983,Micromelia,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0002992,Abnormality of tibia morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0003083,Dislocated radial head,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0003084,Fractures of the long bones,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0003100,Slender long bone,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0003103,Abnormal cortical bone morphology,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0003179,Protrusio acetabuli,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0003396,Syringomyelia,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0004306,Abnormal endocardium morphology,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0004331,Decreased skull ossification,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0004482,Relative macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0004586,Biconcave vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0004621,Enlarged vertebral pedicles,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0004942,Aortic aneurysm,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0005019,Diaphyseal thickening,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0005257,Thoracic hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0005294,Arterial dissection,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0006640,Multiple rib fractures,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0006824,Cranial nerve paralysis,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0006957,Loss of ability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0008905,Rhizomelia,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0010953,Noncommunicating hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0011073,Abnormality of dental color,Very frequent (99-80%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0011314,Abnormality of long bone morphology,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0012366,Basilar invagination,Very rare (<4-1%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0030267,Calcification of the interosseus membrane of the forearm,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0030268,Hyperplastic callus formation,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0100661,Trigeminal neuralgia,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001017,Orphanet,666,ORPHA:666,110,HP:0100761,Visceral angiomatosis,Occasional (29-5%),TAS,,,,"[PMID:20301472, PMID:25439022]",y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0000559,Corneal scarring,Frequent (79-30%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0000977,Soft skin,Very frequent (99-80%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0001119,Keratoglobus,Very frequent (99-80%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0001131,Corneal dystrophy,Very frequent (99-80%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0001642,Pulmonic stenosis,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0009887,Abnormality of hair pigmentation,Frequent (79-30%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0011003,High myopia,Very frequent (99-80%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0100689,Decreased corneal thickness,Very frequent (99-80%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001019,Orphanet,90354,ORPHA:90354,34,HP:0200020,Corneal erosion,Occasional (29-5%),TAS,,,,[PMID:26221552],y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0000464,Abnormality of the neck,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0000775,Abnormality of the diaphragm,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0001324,Muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0001637,Abnormal myocardium morphology,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0001697,Abnormal pericardium morphology,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0002027,Abdominal pain,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0002031,Abnormal esophagus morphology,Occasional (29-5%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0002103,Abnormal pleura morphology,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0002105,Hemoptysis,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0002315,Headache,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0002577,Abnormal stomach morphology,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0002585,Abnormality of the peritoneum,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0002699,Abnormal foramen magnum morphology,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0003319,Abnormality of the cervical spine,Occasional (29-5%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0003396,Syringomyelia,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0003401,Paresthesia,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0003418,Back pain,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0010766,Ectopic calcification,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0030833,Neck pain,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0031035,Chronic infection,Occasional (29-5%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0031983,Abnormal pulmonary thoracic imaging finding,Frequent (79-30%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0032016,Abnormal sputum,Occasional (29-5%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0032445,Pulmonary cyst,Occasional (29-5%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0045026,Abnormality of the mediastinum,Frequent (79-30%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0100712,Abnormal lumbar spine morphology,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0100730,Bronchogenic cyst,Obligate (100%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001025,Orphanet,2357,ORPHA:2357,33,HP:0100750,Atelectasis,Very rare (<4-1%),TAS,,,,"[PMID:12809250, PMID:25669636, PMID:28334597, PMID:29081395, PMID:30702626, PMID:30725658, PMID:33093904]",y,y +GARD:0001029,Orphanet,2771,ORPHA:2771,14,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,,y,y +GARD:0001029,Orphanet,2771,ORPHA:2771,14,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001029,Orphanet,2771,ORPHA:2771,14,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001029,Orphanet,2771,ORPHA:2771,14,HP:0001059,Pterygium,Frequent (79-30%),TAS,,,,,y,y +GARD:0001029,Orphanet,2771,ORPHA:2771,14,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001029,Orphanet,2771,ORPHA:2771,14,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001029,Orphanet,2771,ORPHA:2771,14,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0001029,Orphanet,2771,ORPHA:2771,14,HP:0002645,Wormian bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001029,Orphanet,2771,ORPHA:2771,14,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001029,Orphanet,2771,ORPHA:2771,14,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001029,Orphanet,2771,ORPHA:2771,14,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001029,Orphanet,2771,ORPHA:2771,14,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001029,Orphanet,2771,ORPHA:2771,14,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001029,Orphanet,2771,ORPHA:2771,14,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0001030,Orphanet,130,ORPHA:130,12,HP:0001279,Syncope,Frequent (79-30%),TAS,,,,"[PMID:20301690, PMID:26220970, PMID:29020354, PMID:29254832]",y,y +GARD:0001030,Orphanet,130,ORPHA:130,12,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:20301690, PMID:26220970, PMID:29020354, PMID:29254832]",y,y +GARD:0001030,Orphanet,130,ORPHA:130,12,HP:0001663,Ventricular fibrillation,Occasional (29-5%),TAS,,,,"[PMID:20301690, PMID:26220970, PMID:29020354, PMID:29254832]",y,y +GARD:0001030,Orphanet,130,ORPHA:130,12,HP:0001695,Cardiac arrest,Frequent (79-30%),TAS,,,,"[PMID:20301690, PMID:26220970, PMID:29020354, PMID:29254832]",y,y +GARD:0001030,Orphanet,130,ORPHA:130,12,HP:0004308,Ventricular arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:20301690, PMID:26220970, PMID:29020354, PMID:29254832]",y,y +GARD:0001030,Orphanet,130,ORPHA:130,12,HP:0004751,Paroxysmal ventricular tachycardia,Occasional (29-5%),TAS,,,,"[PMID:20301690, PMID:26220970, PMID:29020354, PMID:29254832]",y,y +GARD:0001030,Orphanet,130,ORPHA:130,12,HP:0004755,Supraventricular tachycardia,Occasional (29-5%),TAS,,,,"[PMID:20301690, PMID:26220970, PMID:29020354, PMID:29254832]",y,y +GARD:0001030,Orphanet,130,ORPHA:130,12,HP:0011704,Sick sinus syndrome,Occasional (29-5%),TAS,,,,"[PMID:20301690, PMID:26220970, PMID:29020354, PMID:29254832]",y,y +GARD:0001030,Orphanet,130,ORPHA:130,12,HP:0011705,First degree atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:20301690, PMID:26220970, PMID:29020354, PMID:29254832]",y,y +GARD:0001030,Orphanet,130,ORPHA:130,12,HP:0011712,Right bundle branch block,Frequent (79-30%),TAS,,,,"[PMID:20301690, PMID:26220970, PMID:29020354, PMID:29254832]",y,y +GARD:0001030,Orphanet,130,ORPHA:130,12,HP:0011715,Trifascicular block,Very rare (<4-1%),TAS,,,,"[PMID:20301690, PMID:26220970, PMID:29020354, PMID:29254832]",y,y +GARD:0001030,Orphanet,130,ORPHA:130,12,HP:0012251,ST segment elevation,Frequent (79-30%),TAS,,,,"[PMID:20301690, PMID:26220970, PMID:29020354, PMID:29254832]",y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0000162,Glossoptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0000246,Sinusitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0000389,Chronic otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0000509,Conjunctivitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0001287,Meningitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0002028,Chronic diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0002088,Abnormal lung morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0002901,Hypocalcemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0002960,Autoimmunity,Occasional (29-5%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0004432,Agammaglobulinemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0006532,Recurrent pneumonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0100658,Cellulitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0100763,Abnormality of the lymphatic system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0100765,Abnormality of the tonsils,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0100806,Sepsis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0100838,Recurrent cutaneous abscess formation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001033,Orphanet,47,ORPHA:47,35,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001037,Orphanet,2285,ORPHA:2285,8,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001037,Orphanet,2285,ORPHA:2285,8,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0001037,Orphanet,2285,ORPHA:2285,8,HP:0000600,Abnormality of the pharynx,Frequent (79-30%),TAS,,,,,y,y +GARD:0001037,Orphanet,2285,ORPHA:2285,8,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0001037,Orphanet,2285,ORPHA:2285,8,HP:0002691,Platybasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001037,Orphanet,2285,ORPHA:2285,8,HP:0003319,Abnormality of the cervical spine,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001037,Orphanet,2285,ORPHA:2285,8,HP:0003468,Abnormal vertebral morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001037,Orphanet,2285,ORPHA:2285,8,HP:0005758,Basilar impression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0000262,Turricephaly,Occasional (29-5%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0001063,Acrocyanosis,Frequent (79-30%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0003241,External genital hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0005590,Spotty hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0008734,Decreased testicular size,Occasional (29-5%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0009381,Short finger,Frequent (79-30%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0011361,Congenital abnormal hair pattern,Frequent (79-30%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0030148,Heart murmur,Occasional (29-5%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001038,Orphanet,1867,ORPHA:1867,23,HP:0500262,Atrichia,Occasional (29-5%),TAS,,,,"[PMID:7726164, PMID:7943046]",y,y +GARD:0001039,Orphanet,312,ORPHA:312,11,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001039,Orphanet,312,ORPHA:312,11,HP:0000982,Palmoplantar keratoderma,Occasional (29-5%),TAS,,,,,y,y +GARD:0001039,Orphanet,312,ORPHA:312,11,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0001039,Orphanet,312,ORPHA:312,11,HP:0001019,Erythroderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001039,Orphanet,312,ORPHA:312,11,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001039,Orphanet,312,ORPHA:312,11,HP:0004396,Poor appetite,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001039,Orphanet,312,ORPHA:312,11,HP:0007475,Congenital bullous ichthyosiform erythroderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001039,Orphanet,312,ORPHA:312,11,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001039,Orphanet,312,ORPHA:312,11,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001039,Orphanet,312,ORPHA:312,11,HP:0100780,Conjunctival hamartoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0001039,Orphanet,312,ORPHA:312,11,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0000982,Palmoplantar keratoderma,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0000987,Atypical scarring of skin,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0001028,Hemangioma,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0001363,Craniosynostosis,Very rare (<4-1%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0003330,Abnormal bone structure,Very frequent (99-80%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0005469,Flat occiput,Very frequent (99-80%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0005789,Generalized osteosclerosis,Very frequent (99-80%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0007488,Diffuse skin atrophy,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0007513,Generalized hypopigmentation,Very frequent (99-80%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0009055,Generalized limb muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0009121,Abnormal axial skeleton morphology,Occasional (29-5%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0010554,Cutaneous finger syndactyly,Very rare (<4-1%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0010739,Osteopoikilosis,Obligate (100%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0100324,Scleroderma,Frequent (79-30%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0100774,Hyperostosis,Very frequent (99-80%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0100898,Connective tissue nevi,Obligate (100%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001044,Orphanet,1306,ORPHA:1306,38,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,"[PMID:15489854, PMID:18577041, PMID:18986450, PMID:19232111, PMID:19438932, PMID:22150319, PMID:2302824, PMID:25184645, PMID:8136548]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0000741,Apathy,Frequent (79-30%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0001297,Stroke,Frequent (79-30%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0001342,Cerebral hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0002077,Migraine with aura,Frequent (79-30%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0002140,Ischemic stroke,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0002326,Transient ischemic attack,Frequent (79-30%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0002333,Motor deterioration,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0002352,Leukoencephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0002381,Aphasia,Very rare (<4-1%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0002500,Abnormal cerebral white matter morphology,Very frequent (99-80%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0002637,Cerebral ischemia,Frequent (79-30%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0007185,Loss of consciousness,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0007236,Recurrent subcortical infarcts,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0010794,Impaired visuospatial constructive cognition,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0010992,Stress urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0031843,Bradyphrenia,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0032325,Lacunar stroke,Very frequent (99-80%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0040329,Multifocal hyperintensity of cerebral white matter on MRI,Very frequent (99-80%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001049,Orphanet,136,ORPHA:136,40,HP:0100545,Arterial stenosis,Occasional (29-5%),TAS,,,,"[PMID:14593195, PMID:16717211, PMID:20038773, PMID:27591799, PMID:29478611]",y,y +GARD:0001051,Orphanet,1310,ORPHA:1310,14,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0001051,Orphanet,1310,ORPHA:1310,14,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001051,Orphanet,1310,ORPHA:1310,14,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0001051,Orphanet,1310,ORPHA:1310,14,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0001051,Orphanet,1310,ORPHA:1310,14,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0001051,Orphanet,1310,ORPHA:1310,14,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001051,Orphanet,1310,ORPHA:1310,14,HP:0004490,Calvarial hyperostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001051,Orphanet,1310,ORPHA:1310,14,HP:0005731,Cortical irregularity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001051,Orphanet,1310,ORPHA:1310,14,HP:0005791,Cortical thickening of long bone diaphyses,Occasional (29-5%),TAS,,,,,y,y +GARD:0001051,Orphanet,1310,ORPHA:1310,14,HP:0006465,Periosteal thickening of long tubular bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0001051,Orphanet,1310,ORPHA:1310,14,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001051,Orphanet,1310,ORPHA:1310,14,HP:0010702,Increased circulating antibody level,Occasional (29-5%),TAS,,,,,y,y +GARD:0001051,Orphanet,1310,ORPHA:1310,14,HP:0100658,Cellulitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001051,Orphanet,1310,ORPHA:1310,14,HP:0100963,Hyperesthesia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001052,Orphanet,1375,ORPHA:1375,8,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001052,Orphanet,1375,ORPHA:1375,8,HP:0000519,Developmental cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001052,Orphanet,1375,ORPHA:1375,8,HP:0000691,Microdontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001052,Orphanet,1375,ORPHA:1375,8,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001052,Orphanet,1375,ORPHA:1375,8,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001052,Orphanet,1375,ORPHA:1375,8,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001052,Orphanet,1375,ORPHA:1375,8,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001052,Orphanet,1375,ORPHA:1375,8,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0000951,Abnormality of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0002206,Pulmonary fibrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0008366,Contractures involving the joints of the feet,Occasional (29-5%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0009473,Joint contracture of the hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0100579,Mucosal telangiectasiae,Frequent (79-30%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0100958,Narrow foramen obturatorium,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001053,Orphanet,220402,ORPHA:220402,15,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0001239,Wrist flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0003089,Hamstring contractures,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0003306,Spinal rigidity,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0003324,Generalized muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0003551,Difficulty climbing stairs,Occasional (29-5%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0003560,Muscular dystrophy,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0003701,Proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0005879,Congenital finger flexion contractures,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0006466,Ankle flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0008946,Pelvic girdle amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0008981,Calf muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0009060,Scapular muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0012037,Pectoralis amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001057,Orphanet,267,ORPHA:267,21,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,"[PMID:10069710, PMID:15694138, PMID:19364062]",y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0000003,Multicystic kidney dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0000476,Cystic hygroma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0001522,Death in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0001562,Oligohydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0001732,Abnormality of the pancreas,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0001737,Pancreatic cysts,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0001789,Hydrops fetalis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0002242,Abnormal intestine morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0002863,Myelodysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0005562,Multiple renal cysts,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0010781,Skin dimple,Frequent (79-30%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0100569,Abnormally ossified vertebrae,Frequent (79-30%),TAS,,,,,y,y +GARD:0001061,Orphanet,1318,ORPHA:1318,27,HP:0100760,Clubbing of toes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001062,Orphanet,1319,ORPHA:1319,9,HP:0001153,Septate vagina,Frequent (79-30%),TAS,,,,,y,y +GARD:0001062,Orphanet,1319,ORPHA:1319,9,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001062,Orphanet,1319,ORPHA:1319,9,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001062,Orphanet,1319,ORPHA:1319,9,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001062,Orphanet,1319,ORPHA:1319,9,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,,y,y +GARD:0001062,Orphanet,1319,ORPHA:1319,9,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001062,Orphanet,1319,ORPHA:1319,9,HP:0009465,Ulnar deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0001062,Orphanet,1319,ORPHA:1319,9,HP:0009601,Aplasia/Hypoplasia of the thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0001062,Orphanet,1319,ORPHA:1319,9,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0000234,Abnormality of the head,Occasional (29-5%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0002134,Abnormality of the basal ganglia,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0002145,Frontotemporal dementia,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0002486,Myotonia,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0002511,Alzheimer disease,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0002715,Abnormality of the immune system,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0003396,Syringomyelia,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0003398,Abnormal synaptic transmission at the neuromuscular junction,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0003416,Spinal canal stenosis,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0003444,EMG: chronic denervation signs,Occasional (29-5%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0003445,EMG: neuropathic changes,Frequent (79-30%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0003737,Mitochondrial myopathy,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0005108,Abnormal intervertebral disk morphology,Frequent (79-30%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0006959,Proximal spinal muscular atrophy,Occasional (29-5%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0007354,Amyotrophic lateral sclerosis,Occasional (29-5%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0007361,Abnormal pons morphology,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0012486,Myelitis,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0012548,Fatty replacement of skeletal muscle,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0012647,Abnormal inflammatory response,Occasional (29-5%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0030113,Abnormal muscle fiber dysferlin,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0030197,Fatigable weakness of skeletal muscles,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0100285,EMG: impaired neuromuscular transmission,Frequent (79-30%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0100315,Lewy bodies,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001063,Orphanet,1320,ORPHA:1320,33,HP:0100614,Myositis,Very rare (<4-1%),TAS,,,,"[PMID:30105164, PMID:30783552]",y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000276,Long face,Occasional (29-5%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000689,Dental malocclusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0000995,Melanocytic nevus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0001822,Hallux valgus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0002414,Spina bifida,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0002967,Cubitus valgus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0006292,Abnormality of dental eruption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0009891,Underdeveloped supraorbital ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0009907,Attached earlobe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0010807,Open bite,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001067,Orphanet,1327,ORPHA:1327,47,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001068,Orphanet,1326,ORPHA:1326,13,HP:0000066,Labial hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001068,Orphanet,1326,ORPHA:1326,13,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001068,Orphanet,1326,ORPHA:1326,13,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001068,Orphanet,1326,ORPHA:1326,13,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001068,Orphanet,1326,ORPHA:1326,13,HP:0001762,Talipes equinovarus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001068,Orphanet,1326,ORPHA:1326,13,HP:0001885,Short 2nd toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001068,Orphanet,1326,ORPHA:1326,13,HP:0002827,Hip dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001068,Orphanet,1326,ORPHA:1326,13,HP:0003065,Patellar hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001068,Orphanet,1326,ORPHA:1326,13,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001068,Orphanet,1326,ORPHA:1326,13,HP:0004634,Cuboid-shaped vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001068,Orphanet,1326,ORPHA:1326,13,HP:0005643,Short 3rd toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001068,Orphanet,1326,ORPHA:1326,13,HP:0011917,Short 5th toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001068,Orphanet,1326,ORPHA:1326,13,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001069,Orphanet,1325,ORPHA:1325,4,HP:0001836,Camptodactyly of toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001069,Orphanet,1325,ORPHA:1325,4,HP:0003166,Increased urinary taurine,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001069,Orphanet,1325,ORPHA:1325,4,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001069,Orphanet,1325,ORPHA:1325,4,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0000016,Urinary retention,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0000925,Abnormality of the vertebral column,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0000940,Abnormal diaphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0001533,Slender build,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002644,Abnormality of pelvic girdle bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002673,Coxa valga,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002818,Abnormality of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002823,Abnormality of femur morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002992,Abnormality of tibia morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0002997,Abnormality of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0003063,Abnormality of the humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0003565,Elevated erythrocyte sedimentation rate,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0005464,Craniofacial osteosclerosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0005791,Cortical thickening of long bone diaphyses,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0007552,Abnormal subcutaneous fat tissue distribution,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0007807,Optic nerve compression,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0012544,Elevated aldolase level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0100255,Metaphyseal dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001072,Orphanet,1328,ORPHA:1328,54,HP:0100774,Hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0000142,Abnormal vagina morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0000153,Abnormality of the mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0000159,Abnormal lip morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0000951,Abnormality of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0001821,Broad nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0002715,Abnormality of the immune system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0004306,Abnormal endocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0004370,Abnormality of temperature regulation,Occasional (29-5%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0012735,Cough,Occasional (29-5%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0030016,Dyspareunia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0100825,Cheilitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0200034,Papule,Frequent (79-30%),TAS,,,,,y,y +GARD:0001077,Orphanet,1334,ORPHA:1334,31,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0000035,Abnormal testis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0001634,Mitral valve prolapse,Frequent (79-30%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0002997,Abnormality of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001078,Orphanet,2233,ORPHA:2233,15,HP:0011362,Abnormal hair quantity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0000091,Abnormal renal tubule morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0001733,Pancreatitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0001974,Leukocytosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0006543,Cardiorespiratory arrest,Occasional (29-5%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0006775,Multiple myeloma,Occasional (29-5%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0010741,Pedal edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0012735,Cough,Occasional (29-5%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0025142,Constitutional symptom,Frequent (79-30%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0031417,Rhinorrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0100520,Oliguria,Occasional (29-5%),TAS,,,,,y,y +GARD:0001084,Orphanet,188,ORPHA:188,23,HP:0100598,Pulmonary edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0000775,Abnormality of the diaphragm,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001540,Diastasis recti,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001634,Mitral valve prolapse,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001636,Tetralogy of Fallot,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001647,Bicuspid aortic valve,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001650,Aortic valve stenosis,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001651,Dextrocardia,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001655,Patent foramen ovale,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001663,Ventricular fibrillation,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001669,Transposition of the great arteries,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001712,Left ventricular hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001718,Mitral stenosis,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001907,Thromboembolism,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0003115,Abnormal EKG,Frequent (79-30%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0004415,Pulmonary artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0004756,Ventricular tachycardia,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0004971,Pulmonary artery hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0005182,Bicuspid pulmonary valve,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0005301,Persistent left superior vena cava,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0006682,Premature ventricular contraction,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0006714,Aplasia/Hypoplasia of the sternum,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0010446,Tricuspid stenosis,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0010773,Partial anomalous pulmonary venous return,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0010866,Abdominal wall defect,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0011628,Congenital defect of the pericardium,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0011636,Abnormal coronary artery origin,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0011662,Tricuspid atresia,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0100584,Endocarditis,Very rare (<4-1%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001094,Orphanet,1686,ORPHA:1686,42,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:25782048, PMID:32065468]",y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000078,Abnormality of the genital system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000144,Decreased fertility,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000912,Sprengel anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0001003,Multiple lentigines,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0001480,Freckling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0001633,Abnormal mitral valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0001634,Mitral valve prolapse,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0001639,Hypertrophic cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0001641,Abnormal pulmonary valve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0001642,Pulmonic stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0002617,Vascular dilatation,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0003006,Neuroblastoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0004306,Abnormal endocardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0004414,Abnormality of the pulmonary artery,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0006695,Atrioventricular canal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0007392,Excessive wrinkled skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0008625,Severe sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0011710,Bundle branch block,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001100,Orphanet,500,ORPHA:500,50,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0001102,Orphanet,1345,ORPHA:1345,14,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001102,Orphanet,1345,ORPHA:1345,14,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0001102,Orphanet,1345,ORPHA:1345,14,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001102,Orphanet,1345,ORPHA:1345,14,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0001102,Orphanet,1345,ORPHA:1345,14,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,,y,y +GARD:0001102,Orphanet,1345,ORPHA:1345,14,HP:0001639,Hypertrophic cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001102,Orphanet,1345,ORPHA:1345,14,HP:0001654,Abnormal heart valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001102,Orphanet,1345,ORPHA:1345,14,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,,y,y +GARD:0001102,Orphanet,1345,ORPHA:1345,14,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001102,Orphanet,1345,ORPHA:1345,14,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001102,Orphanet,1345,ORPHA:1345,14,HP:0004420,Arterial thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001102,Orphanet,1345,ORPHA:1345,14,HP:0005108,Abnormal intervertebral disk morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001102,Orphanet,1345,ORPHA:1345,14,HP:0010885,Avascular necrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001102,Orphanet,1345,ORPHA:1345,14,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0000537,Epicanthus inversus,Very frequent (99-80%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0000593,Abnormal anterior chamber morphology,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0001540,Diastasis recti,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0002265,Large fleshy ears,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0002558,Supernumerary nipple,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0002825,Caudal appendage,Occasional (29-5%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0002974,Radioulnar synostosis,Very frequent (99-80%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0003298,Spina bifida occulta,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0005105,Abnormal nasal morphology,Occasional (29-5%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0006394,Limited pronation/supination of forearm,Very frequent (99-80%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0008689,Bilateral cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,[PMID:16096999],y,y +GARD:0001118,Orphanet,293843,ORPHA:293843,30,HP:0040016,Prominent coccyx,Occasional (29-5%),TAS,,,,[PMID:16096999],y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0000008,Abnormal morphology of female internal genitalia,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0000053,Macroorchidism,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0000098,Tall stature,Very rare (<4-1%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0000138,Ovarian cyst,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0000199,Tongue nodules,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0000771,Gynecomastia,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0000798,Oligospermia,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0000826,Precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0000845,Elevated circulating growth hormone concentration,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0000866,Euthyroid multinodular goiter,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0000870,Increased circulating prolactin concentration,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0001003,Multiple lentigines,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0001065,Striae distensae,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0001074,Atypical nevi in non-sun exposed areas,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0001402,Hepatocellular carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0001507,Growth abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0001580,Pigmented micronodular adrenocortical disease,Very frequent (99-80%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0001907,Thromboembolism,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0002890,Thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0002894,Neoplasm of the pancreas,Very rare (<4-1%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0002895,Papillary thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0003118,Increased circulating cortisol level,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0004324,Increased body weight,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0004944,Dilatation of the cerebral artery,Very rare (<4-1%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0005585,Spotty hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0006731,Follicular thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0006753,Neoplasm of the stomach,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0007565,Multiple cafe-au-lait spots,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0010619,Fibroadenoma of the breast,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0010732,Nodular changes affecting the eyelids,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0010785,Gonadal neoplasm,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0010788,Testicular neoplasm,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0011672,Cardiac myxoma,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0011760,Pituitary growth hormone cell adenoma,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0012041,Decreased fertility in males,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0012206,Abnormal sperm motility,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0012743,Abdominal obesity,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0012887,Ovarian serous cystadenoma,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0025274,Ovarian dermoid cyst,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0025318,Ovarian carcinoma,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0025383,Dorsocervical fat pad,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0025451,Testicular adrenal rest tumor,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0030038,Enchondroma,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0030072,Paranasal sinus neoplasm,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0030075,Ductal carcinoma in situ,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0030269,Increased serum insulin-like growth factor 1,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0030428,Cutaneous myxoma,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0100008,Schwannoma,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0100013,Neoplasm of the breast,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0100618,Leydig cell neoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0100619,Sertoli cell neoplasm,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0100638,Neoplasm of the pharynx,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0100737,Abnormal hard palate morphology,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0100743,Neoplasm of the rectum,Very rare (<4-1%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0100751,Esophageal neoplasm,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0100814,Blue nevus,Frequent (79-30%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001119,Orphanet,1359,ORPHA:1359,64,HP:0500011,Moon facies,Occasional (29-5%),TAS,,,,"[PMID:20301463, PMID:29939654]",y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0001259,Coma,Frequent (79-30%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0001399,Hepatic failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0001947,Renal tubular acidosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0007185,Loss of consciousness,Frequent (79-30%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0008279,Transient hyperlipidemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001120,Orphanet,156,ORPHA:156,21,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0000113,Polycystic kidney dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0000800,Cystic renal dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0001274,Agenesis of corpus callosum,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0001302,Pachygyria,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0001320,Cerebellar vermis hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0001638,Cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0001970,Tubulointerstitial nephritis,Occasional (29-5%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0001985,Hypoketotic hypoglycemia,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0002126,Polymicrogyria,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0002134,Abnormality of the basal ganglia,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0002269,Abnormality of neuronal migration,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0002514,Cerebral calcification,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0002574,Episodic abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0002643,Neonatal respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0002913,Myoglobinuria,Frequent (79-30%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0003201,Rhabdomyolysis,Occasional (29-5%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0003449,Cold-induced muscle cramps,Occasional (29-5%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0003710,Exercise-induced muscle cramps,Occasional (29-5%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0003738,Exercise-induced myalgia,Frequent (79-30%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0006559,Hepatic calcification,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0008315,Decreased plasma free carnitine,Frequent (79-30%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0008682,Renal tubular epithelial necrosis,Occasional (29-5%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0011936,Decreased plasma total carnitine,Frequent (79-30%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0011964,Intermittent painful muscle spasms,Occasional (29-5%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0012380,Reduced carnitine O-palmitoyltransferase level,Very frequent (99-80%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0012443,Abnormality of brain morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0040320,Red-brown urine,Frequent (79-30%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001121,Orphanet,157,ORPHA:157,42,HP:0045045,Elevated circulating acylcarnitine concentration,Frequent (79-30%),TAS,,,,"[PMID:20301431, PMID:28054946]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0000737,Irritability,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0001298,Encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0001638,Cardiomyopathy,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0001985,Hypoketotic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0001987,Hyperammonemia,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0002045,Hypothermia,Occasional (29-5%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0002882,Sudden episodic apnea,Occasional (29-5%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0003011,Abnormality of the musculature,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0003162,Fasting hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0003201,Rhabdomyolysis,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0003215,Dicarboxylic aciduria,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0003234,Decreased plasma carnitine,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0004756,Ventricular tachycardia,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0008331,Elevated creatine kinase after exercise,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0045045,Elevated circulating acylcarnitine concentration,Very frequent (99-80%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0100520,Oliguria,Occasional (29-5%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001123,Orphanet,159,ORPHA:159,31,HP:0100602,Preeclampsia,Occasional (29-5%),TAS,,,,"[PMID:10577999, PMID:1598097, PMID:17578469, PMID:24088670, PMID:7350426, PMID:8450053]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0001047,Atopic dermatitis,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0002099,Asthma,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0002202,Pleural effusion,Very rare (<4-1%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0003212,Increased circulating IgE level,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0006516,Hypersensitivity pneumonitis,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0011024,Abnormality of the gastrointestinal tract,Very rare (<4-1%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0011227,Elevated circulating C-reactive protein concentration,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0011354,Generalized abnormality of skin,Very rare (<4-1%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0025406,Asthenia,Occasional (29-5%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0030166,Night sweats,Occasional (29-5%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0030828,Wheezing,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0030830,Crackles,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0031246,Nonproductive cough,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0031983,Abnormal pulmonary thoracic imaging finding,Very frequent (99-80%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0032017,Sputum eosinophilia,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0032061,Hypereosinophilia,Frequent (79-30%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0032177,Parenchymal consolidation,Very frequent (99-80%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001130,Orphanet,2902,ORPHA:2902,27,HP:0100750,Atelectasis,Very rare (<4-1%),TAS,,,,"[PMID:29735405, PMID:33898133]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0001344,Absent speech,Occasional (29-5%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0003144,Increased serum serotonin,Occasional (29-5%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0008780,Congenital bilateral hip dislocation,Frequent (79-30%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001133,Orphanet,85288,ORPHA:85288,17,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:12673656, PMID:2063914]",y,y +GARD:0001139,Orphanet,1366,ORPHA:1366,10,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001139,Orphanet,1366,ORPHA:1366,10,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001139,Orphanet,1366,ORPHA:1366,10,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001139,Orphanet,1366,ORPHA:1366,10,HP:0000987,Atypical scarring of skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001139,Orphanet,1366,ORPHA:1366,10,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001139,Orphanet,1366,ORPHA:1366,10,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001139,Orphanet,1366,ORPHA:1366,10,HP:0007418,Alopecia totalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001139,Orphanet,1366,ORPHA:1366,10,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001139,Orphanet,1366,ORPHA:1366,10,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001139,Orphanet,1366,ORPHA:1366,10,HP:0100679,Lack of skin elasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001141,Orphanet,1368,ORPHA:1368,13,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001141,Orphanet,1368,ORPHA:1368,13,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001141,Orphanet,1368,ORPHA:1368,13,HP:0000519,Developmental cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001141,Orphanet,1368,ORPHA:1368,13,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001141,Orphanet,1368,ORPHA:1368,13,HP:0000762,Decreased nerve conduction velocity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001141,Orphanet,1368,ORPHA:1368,13,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001141,Orphanet,1368,ORPHA:1368,13,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0001141,Orphanet,1368,ORPHA:1368,13,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001141,Orphanet,1368,ORPHA:1368,13,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001141,Orphanet,1368,ORPHA:1368,13,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,,y,y +GARD:0001141,Orphanet,1368,ORPHA:1368,13,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0001141,Orphanet,1368,ORPHA:1368,13,HP:0008615,Adult onset sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001141,Orphanet,1368,ORPHA:1368,13,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001142,Orphanet,1369,ORPHA:1369,10,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001142,Orphanet,1369,ORPHA:1369,10,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0001142,Orphanet,1369,ORPHA:1369,10,HP:0000512,Abnormal electroretinogram,Occasional (29-5%),TAS,,,,,y,y +GARD:0001142,Orphanet,1369,ORPHA:1369,10,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001142,Orphanet,1369,ORPHA:1369,10,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001142,Orphanet,1369,ORPHA:1369,10,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001142,Orphanet,1369,ORPHA:1369,10,HP:0001131,Corneal dystrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001142,Orphanet,1369,ORPHA:1369,10,HP:0001639,Hypertrophic cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001142,Orphanet,1369,ORPHA:1369,10,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001142,Orphanet,1369,ORPHA:1369,10,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001155,Orphanet,1377,ORPHA:1377,7,HP:0000482,Microcornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001155,Orphanet,1377,ORPHA:1377,7,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001155,Orphanet,1377,ORPHA:1377,7,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001155,Orphanet,1377,ORPHA:1377,7,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0001155,Orphanet,1377,ORPHA:1377,7,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001155,Orphanet,1377,ORPHA:1377,7,HP:0001131,Corneal dystrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001155,Orphanet,1377,ORPHA:1377,7,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0001163,Orphanet,1123,ORPHA:1123,7,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:7894739],y,y +GARD:0001163,Orphanet,1123,ORPHA:1123,7,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:7894739],y,y +GARD:0001163,Orphanet,1123,ORPHA:1123,7,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,[PMID:7894739],y,y +GARD:0001163,Orphanet,1123,ORPHA:1123,7,HP:0002825,Caudal appendage,Frequent (79-30%),TAS,,,,[PMID:7894739],y,y +GARD:0001163,Orphanet,1123,ORPHA:1123,7,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:7894739],y,y +GARD:0001163,Orphanet,1123,ORPHA:1123,7,HP:0008610,Infantile sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:7894739],y,y +GARD:0001163,Orphanet,1123,ORPHA:1123,7,HP:0011297,Abnormal digit morphology,Frequent (79-30%),TAS,,,,[PMID:7894739],y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0000036,Abnormal penis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0000073,Ureteral duplication,Frequent (79-30%),TAS,,,,,y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0000078,Abnormality of the genital system,Frequent (79-30%),TAS,,,,,y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0002414,Spina bifida,Frequent (79-30%),TAS,,,,,y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0002475,Myelomeningocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0003762,Uterus didelphys,Frequent (79-30%),TAS,,,,,y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0005107,Abnormal sacrum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0009791,Bifid sacrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0100561,Spinal cord lesion,Frequent (79-30%),TAS,,,,,y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0100589,Urogenital fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0001164,Orphanet,1756,ORPHA:1756,15,HP:0100668,Intestinal duplication,Frequent (79-30%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0000204,Cleft upper lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0000527,Long eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0000836,Hyperthyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001660,Truncus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001718,Mitral stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001822,Hallux valgus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001829,Foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0001839,Split foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0001167,Orphanet,2008,ORPHA:2008,37,HP:0100589,Urogenital fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0001188,Orphanet,1171,ORPHA:1171,13,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:20301294],y,y +GARD:0001188,Orphanet,1171,ORPHA:1171,13,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,[PMID:20301294],y,y +GARD:0001188,Orphanet,1171,ORPHA:1171,13,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,[PMID:20301294],y,y +GARD:0001188,Orphanet,1171,ORPHA:1171,13,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,[PMID:20301294],y,y +GARD:0001188,Orphanet,1171,ORPHA:1171,13,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:20301294],y,y +GARD:0001188,Orphanet,1171,ORPHA:1171,13,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMID:20301294],y,y +GARD:0001188,Orphanet,1171,ORPHA:1171,13,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,[PMID:20301294],y,y +GARD:0001188,Orphanet,1171,ORPHA:1171,13,HP:0001298,Encephalopathy,Very frequent (99-80%),TAS,,,,[PMID:20301294],y,y +GARD:0001188,Orphanet,1171,ORPHA:1171,13,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:20301294],y,y +GARD:0001188,Orphanet,1171,ORPHA:1171,13,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,[PMID:20301294],y,y +GARD:0001188,Orphanet,1171,ORPHA:1171,13,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,[PMID:20301294],y,y +GARD:0001188,Orphanet,1171,ORPHA:1171,13,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:20301294],y,y +GARD:0001188,Orphanet,1171,ORPHA:1171,13,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,[PMID:20301294],y,y +GARD:0001189,Orphanet,1174,ORPHA:1174,12,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001189,Orphanet,1174,ORPHA:1174,12,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0001189,Orphanet,1174,ORPHA:1174,12,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001189,Orphanet,1174,ORPHA:1174,12,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0001189,Orphanet,1174,ORPHA:1174,12,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001189,Orphanet,1174,ORPHA:1174,12,HP:0000691,Microdontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001189,Orphanet,1174,ORPHA:1174,12,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001189,Orphanet,1174,ORPHA:1174,12,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001189,Orphanet,1174,ORPHA:1174,12,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001189,Orphanet,1174,ORPHA:1174,12,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001189,Orphanet,1174,ORPHA:1174,12,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001189,Orphanet,1174,ORPHA:1174,12,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0000298,Mask-like facies,Frequent (79-30%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0000479,Abnormal retinal morphology,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0000544,External ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0001621,Weak voice,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0002067,Bradykinesia,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0002345,Action tremor,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0002362,Shuffling gait,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0002396,Cogwheel rigidity,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0002548,Parkinsonism with favorable response to dopaminergic medication,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0002921,Abnormality of the cerebrospinal fluid,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0002936,Distal sensory impairment,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0003200,Ragged-red muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0003236,Elevated circulating creatine kinase concentration,Very rare (<4-1%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0003390,Sensory axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0003546,Exercise intolerance,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0003552,Muscle stiffness,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0003688,Cytochrome C oxidase-negative muscle fibers,Frequent (79-30%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0003691,Scapular winging,Very rare (<4-1%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0003701,Proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0003737,Mitochondrial myopathy,Frequent (79-30%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0007641,Dyschromatopsia,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0025403,Stooped posture,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0030237,Hand muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0100295,Muscle fiber atrophy,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0100543,Cognitive impairment,Very rare (<4-1%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001191,Orphanet,254886,ORPHA:254886,42,HP:0100653,Optic neuritis,Occasional (29-5%),TAS,,,,"[PMID:16634032, PMID:20837861, PMID:21670405, PMID:21937588, PMID:8628476]",y,y +GARD:0001196,Orphanet,2246,ORPHA:2246,9,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001196,Orphanet,2246,ORPHA:2246,9,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001196,Orphanet,2246,ORPHA:2246,9,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001196,Orphanet,2246,ORPHA:2246,9,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001196,Orphanet,2246,ORPHA:2246,9,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001196,Orphanet,2246,ORPHA:2246,9,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001196,Orphanet,2246,ORPHA:2246,9,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001196,Orphanet,2246,ORPHA:2246,9,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001196,Orphanet,2246,ORPHA:2246,9,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0000640,Gaze-evoked nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0001310,Dysmetria,Very frequent (99-80%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0002066,Gait ataxia,Very frequent (99-80%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0002198,Dilated fourth ventricle,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0002275,Poor motor coordination,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0002280,Enlarged cisterna magna,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0002506,Diffuse cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0003128,Lactic acidosis,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0006855,Cerebellar vermis atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0007272,Progressive psychomotor deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0010794,Impaired visuospatial constructive cognition,Occasional (29-5%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0031936,Delayed ability to walk,Very frequent (99-80%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001199,Orphanet,1170,ORPHA:1170,29,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20301317, PMID:25808372, PMID:29891078, PMID:31267374]",y,y +GARD:0001200,Orphanet,1397,ORPHA:1397,5,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001200,Orphanet,1397,ORPHA:1397,5,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001200,Orphanet,1397,ORPHA:1397,5,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001200,Orphanet,1397,ORPHA:1397,5,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001200,Orphanet,1397,ORPHA:1397,5,HP:0012642,Cerebellar agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000204,Cleft upper lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000289,Broad philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000892,Bifid ribs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000902,Rib fusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0000912,Sprengel anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0001320,Cerebellar vermis hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0002079,Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0002208,Coarse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0002937,Hemivertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0010720,Abnormal hair pattern,Frequent (79-30%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001210,Orphanet,1394,ORPHA:1394,35,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0000096,Glomerular sclerosis,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0000988,Skin rash,Very rare (<4-1%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0001009,Telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0001895,Normochromic anemia,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0001897,Normocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0002077,Migraine with aura,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0002083,Migraine without aura,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0002197,Generalized-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0002344,Progressive neurologic deterioration,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0002500,Abnormal cerebral white matter morphology,Very frequent (99-80%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0003155,Elevated circulating alkaline phosphatase concentration,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0003259,Elevated circulating creatinine concentration,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Very rare (<4-1%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0006707,Abnormality of the hepatic vasculature,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0008046,Abnormal retinal vascular morphology,Very frequent (99-80%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0008223,Compensated hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0011163,Focal sensory seizure with somatosensory features,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0011954,Nodular regenerative hyperplasia of liver,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0012377,Hemianopia,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0030319,Weakness of facial musculature,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0030666,Retinal neovascularization,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0030880,Raynaud phenomenon,Very frequent (99-80%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0030948,Elevated gamma-glutamyltransferase level,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0031606,Retinal cotton wool spot,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0040049,Macular edema,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0040328,Focal hyperintensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0040331,Focal hypointensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0200030,Punctate vasculitis skin lesions,Very rare (<4-1%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001217,Orphanet,247691,ORPHA:247691,50,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:20876473, PMID:31536185]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0000649,Abnormality of visual evoked potentials,Very frequent (99-80%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0001310,Dysmetria,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0002075,Dysdiadochokinesis,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0002078,Truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0002463,Language impairment,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0002540,Inability to walk,Very frequent (99-80%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0007015,Poor gross motor coordination,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0007359,Focal-onset seizure,Very frequent (99-80%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0007367,Atrophy/Degeneration affecting the central nervous system,Very frequent (99-80%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0007371,Corpus callosum atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0008770,Obsessive-compulsive trait,Occasional (29-5%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0010841,Multifocal epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0010845,EEG with generalized slow activity,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0010850,EEG with spike-wave complexes,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0011166,Focal myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0011193,EEG with focal spikes,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0011442,Abnormal central motor function,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001223,Orphanet,228360,ORPHA:228360,39,HP:0030891,Periventricular white matter hyperintensities,Frequent (79-30%),TAS,,,,"[PMID:20157158, PMID:25359263, PMID:28542837]",y,y +GARD:0001226,Orphanet,2218,ORPHA:2218,6,HP:0001305,Dandy-Walker malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001226,Orphanet,2218,ORPHA:2218,6,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001226,Orphanet,2218,ORPHA:2218,6,HP:0002754,Osteomyelitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001226,Orphanet,2218,ORPHA:2218,6,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001226,Orphanet,2218,ORPHA:2218,6,HP:0040165,Periostitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001226,Orphanet,2218,ORPHA:2218,6,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0000072,Hydroureter,Frequent (79-30%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0000190,Abnormal oral frenulum morphology,Frequent (79-30%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0001270,Motor delay,Excluded (0%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0002164,Nail dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0002212,Curly hair,Very frequent (99-80%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0002710,Commissural lip pit,Frequent (79-30%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0004704,Short fifth metatarsal,Occasional (29-5%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0006349,Agenesis of permanent teeth,Frequent (79-30%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0009755,Ankyloblepharon,Very frequent (99-80%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0010297,Bifid tongue,Frequent (79-30%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0030011,Imperforate hymen,Frequent (79-30%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0100750,Atelectasis,Frequent (79-30%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0200041,Skin erosion,Excluded (0%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001233,Orphanet,1401,ORPHA:1401,20,HP:0200160,Agenesis of maxillary incisor,Frequent (79-30%),TAS,,,,"[PMID:2012123, PMID:23610050, PMID:26129644, PMID:28940926, PMID:490586, PMID:8209899]",y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0000044,Hypogonadotropic hypogonadism,Obligate (100%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0000510,Rod-cone dystrophy,Obligate (100%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0000580,Pigmentary retinopathy,Obligate (100%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0000830,Anterior hypopituitarism,Very frequent (99-80%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0003164,Hypothalamic gonadotropin-releasing hormone deficiency,Very frequent (99-80%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0003187,Breast hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0008187,Absence of secondary sex characteristics,Very frequent (99-80%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0008202,Reduced circulating prolactin concentration,Very frequent (99-80%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0008240,Secondary growth hormone deficiency,Very frequent (99-80%),TAS,,,,[PMID:6795223],y,y +GARD:0001234,Orphanet,2235,ORPHA:2235,20,HP:0008724,Hypoplasia of the ovary,Very frequent (99-80%),TAS,,,,[PMID:6795223],y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0000207,Triangular mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0000269,Prominent occiput,Occasional (29-5%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0001643,Patent ductus arteriosus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0004218,Symphalangism of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0004220,Short middle phalanx of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0006159,Mesoaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0006335,Persistence of primary teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0008498,No permanent dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0010112,Mesoaxial foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001237,Orphanet,46627,ORPHA:46627,28,HP:0012471,Thick vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0000762,Decreased nerve conduction velocity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0000763,Sensory neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0001761,Pes cavus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0002460,Distal muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0007141,Sensorimotor neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001240,Orphanet,101078,ORPHA:101078,16,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0000543,Optic disc pallor,Occasional (29-5%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0001138,Optic neuropathy,Occasional (29-5%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0002378,Hand tremor,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0003376,Steppage gait,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0003431,Decreased motor nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0003444,EMG: chronic denervation signs,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0006801,Hyperactive deep tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0007924,Slow decrease in visual acuity,Occasional (29-5%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0008944,Distal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0008954,Intrinsic hand muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0011399,Tibialis atrophy,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0011727,Peroneal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0030237,Hand muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001243,Orphanet,101076,ORPHA:101076,26,HP:0031866,Clasp-knife sign,Occasional (29-5%),TAS,,,,"[PMID:1557086, PMID:15955956, PMID:1674639]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0003431,Decreased motor nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0007108,Demyelinating peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0007149,Distal upper limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0008110,Equinovarus deformity,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0008944,Distal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0008954,Intrinsic hand muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0008994,Proximal muscle weakness in lower limbs,Occasional (29-5%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0009063,Progressive distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0030237,Hand muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001244,Orphanet,101077,ORPHA:101077,29,HP:0031936,Delayed ability to walk,Frequent (79-30%),TAS,,,,"[PMID:26385972, PMID:29626178]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0002936,Distal sensory impairment,Frequent (79-30%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0003431,Decreased motor nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0003448,Decreased sensory nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0006801,Hyperactive deep tendon reflexes,Very rare (<4-1%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0007108,Demyelinating peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0007131,Acute demyelinating polyneuropathy,Occasional (29-5%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0008981,Calf muscle hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0009113,Diaphragmatic weakness,Occasional (29-5%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0010833,Spontaneous pain sensation,Occasional (29-5%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0010871,Sensory ataxia,Frequent (79-30%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001245,Orphanet,101081,ORPHA:101081,19,HP:0030834,Shoulder pain,Occasional (29-5%),TAS,,,,"[PMID:15703022, PMID:17353481, PMID:8682501]",y,y +GARD:0001246,Orphanet,101082,ORPHA:101082,14,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:12477701, PMID:14711881, PMID:18337304]",y,y +GARD:0001246,Orphanet,101082,ORPHA:101082,14,HP:0000615,Abnormal pupil morphology,Frequent (79-30%),TAS,,,,"[PMID:12477701, PMID:14711881, PMID:18337304]",y,y +GARD:0001246,Orphanet,101082,ORPHA:101082,14,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:12477701, PMID:14711881, PMID:18337304]",y,y +GARD:0001246,Orphanet,101082,ORPHA:101082,14,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:12477701, PMID:14711881, PMID:18337304]",y,y +GARD:0001246,Orphanet,101082,ORPHA:101082,14,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:12477701, PMID:14711881, PMID:18337304]",y,y +GARD:0001246,Orphanet,101082,ORPHA:101082,14,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:12477701, PMID:14711881, PMID:18337304]",y,y +GARD:0001246,Orphanet,101082,ORPHA:101082,14,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:12477701, PMID:14711881, PMID:18337304]",y,y +GARD:0001246,Orphanet,101082,ORPHA:101082,14,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:12477701, PMID:14711881, PMID:18337304]",y,y +GARD:0001246,Orphanet,101082,ORPHA:101082,14,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:12477701, PMID:14711881, PMID:18337304]",y,y +GARD:0001246,Orphanet,101082,ORPHA:101082,14,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:12477701, PMID:14711881, PMID:18337304]",y,y +GARD:0001246,Orphanet,101082,ORPHA:101082,14,HP:0003469,Peripheral dysmyelination,Frequent (79-30%),TAS,,,,"[PMID:12477701, PMID:14711881, PMID:18337304]",y,y +GARD:0001246,Orphanet,101082,ORPHA:101082,14,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:12477701, PMID:14711881, PMID:18337304]",y,y +GARD:0001246,Orphanet,101082,ORPHA:101082,14,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:12477701, PMID:14711881, PMID:18337304]",y,y +GARD:0001246,Orphanet,101082,ORPHA:101082,14,HP:0003712,Skeletal muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:12477701, PMID:14711881, PMID:18337304]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0000762,Decreased nerve conduction velocity,Very frequent (99-80%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0001604,Vocal cord paresis,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0001761,Pes cavus,Very frequent (99-80%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0001765,Hammertoe,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0001776,Bilateral talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0002460,Distal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0002936,Distal sensory impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0003387,Decreased number of large peripheral myelinated nerve fibers,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0003547,Shoulder girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0003693,Distal amyotrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0003731,Quadriceps muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0006064,Limited interphalangeal movement,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0006248,Limited wrist movement,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0006858,Impaired distal proprioception,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0006886,Impaired distal vibration sensation,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0006937,Impaired distal tactile sensation,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0007010,Poor fine motor coordination,Very frequent (99-80%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0007015,Poor gross motor coordination,Very frequent (99-80%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0007108,Demyelinating peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0007267,Chronic axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0008443,Spinal deformities,Occasional (29-5%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0008935,Generalized neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0009072,Decreased Achilles reflex,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0009109,Denervation of the diaphragm,Occasional (29-5%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0009473,Joint contracture of the hand,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0012078,Motor conduction block,Occasional (29-5%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0012391,Hyporeflexia of upper limbs,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0030237,Hand muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001252,Orphanet,99948,ORPHA:99948,40,HP:0030319,Weakness of facial musculature,Very rare (<4-1%),TAS,,,,"[PMID:20301711, PMID:26848201]",y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0000763,Sensory neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0001761,Pes cavus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0002463,Language impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0007149,Distal upper limb amyotrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0008944,Distal lower limb amyotrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001258,Orphanet,101075,ORPHA:101075,16,HP:0040129,Abnormal nerve conduction velocity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0001199,Triphalangeal thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001261,Orphanet,1406,ORPHA:1406,16,HP:0100335,Non-midline cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0000554,Uveitis,Very rare (<4-1%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001298,Encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001394,Cirrhosis,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001395,Hepatic fibrosis,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001396,Cholestasis,Very frequent (99-80%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001402,Hepatocellular carcinoma,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001409,Portal hypertension,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001879,Abnormal eosinophil morphology,Excluded (0%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0002608,Celiac disease,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0003459,Polyclonal elevation of IgM,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0003700,Generalized amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0004905,Low levels of vitamin A,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0005429,Recurrent systemic pyogenic infections,Excluded (0%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0006554,Acute hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0008151,Prolonged prothrombin time,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0010638,Elevated alkaline phosphatase of hepatic origin,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0011034,Amyloidosis,Excluded (0%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0011892,Low levels of vitamin K,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0012440,Abnormal biliary tract morphology,Very frequent (99-80%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0012522,Spider hemangioma,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0012700,Abnormal large intestine physiology,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0030153,Cholangiocarcinoma,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0030168,Dilated superficial abdominal veins,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0040275,Adenocarcinoma of the large intestine,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0100279,Ulcerative colitis,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0100512,Low levels of vitamin D,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0100513,Low levels of vitamin E,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0100575,Neoplasm of the gallbladder,Very rare (<4-1%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0100626,Chronic hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0100646,Thyroiditis,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0100651,Type I diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0100727,Histiocytosis,Excluded (0%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001280,Orphanet,171,ORPHA:171,55,HP:0100869,Palmar telangiectasia,Frequent (79-30%),TAS,,,,"[PMID:10907383, PMID:17062136, PMID:17317411, PMID:19224956, PMID:21151127, PMID:21793028, PMID:22821403, PMID:23050548, PMID:23810223, PMID:27653566, PMID:28025879, PMID:28390159, PMID:9296539]",y,y +GARD:0001292,Orphanet,1416,ORPHA:1416,10,HP:0000934,Chondrocalcinosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001292,Orphanet,1416,ORPHA:1416,10,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0001292,Orphanet,1416,ORPHA:1416,10,HP:0001369,Arthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001292,Orphanet,1416,ORPHA:1416,10,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0001292,Orphanet,1416,ORPHA:1416,10,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0001292,Orphanet,1416,ORPHA:1416,10,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001292,Orphanet,1416,ORPHA:1416,10,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001292,Orphanet,1416,ORPHA:1416,10,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001292,Orphanet,1416,ORPHA:1416,10,HP:0005108,Abnormal intervertebral disk morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001292,Orphanet,1416,ORPHA:1416,10,HP:0100593,Calcification of cartilage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0000410,Mixed hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0000609,Optic nerve hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0000919,Abnormality of the costochondral junction,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0000925,Abnormality of the vertebral column,Frequent (79-30%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0001629,Ventricular septal defect,Very rare (<4-1%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0001631,Atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0001742,Nasal congestion,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0001857,Short distal phalanx of toe,Frequent (79-30%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0002000,Short columella,Frequent (79-30%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0002020,Gastroesophageal reflux,Very rare (<4-1%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0002341,Cervical cord compression,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0002643,Neonatal respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0002777,Tracheal stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0002787,Tracheal calcification,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0002871,Central apnea,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0002947,Cervical kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0003316,Butterfly vertebrae,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0003320,C1-C2 subluxation,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0003416,Spinal canal stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0003417,Coronal cleft vertebrae,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0003467,Atlantoaxial instability,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0003508,Proportionate short stature,Frequent (79-30%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0004415,Pulmonary artery stenosis,Very rare (<4-1%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0004695,Calcaneal epiphyseal stippling,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0004887,Respiratory failure requiring assisted ventilation,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0007766,Optic disc hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0008417,Vertebral hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0008420,Punctate vertebral calcifications,Frequent (79-30%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0008434,Hypoplastic cervical vertebrae,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0008445,Cervical spinal canal stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0008469,Cervical vertebral dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0008754,Laryngeal calcification,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0009107,Abnormal ossification involving the femoral head and neck,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0009928,Thick nasal alae,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0010171,Epiphyseal stippling of toe phalanges,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0010255,Stippling of the epiphyses of the distal phalanges of the hand,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0010646,Cervical spine instability,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0010655,Epiphyseal stippling,Frequent (79-30%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0010666,Hypoplasia of the anterior nasal spine,Frequent (79-30%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0010880,Increased nuchal translucency,Excluded (0%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0011968,Feeding difficulties,Very rare (<4-1%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0025356,Psychomotor retardation,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:0025426,Abnormal bronchus morphology,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001296,Orphanet,79345,ORPHA:79345,56,HP:3000052,Abnormal hyoid bone morphology,Occasional (29-5%),TAS,,,,"[PMID:20301713, PMID:24712475]",y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0001831,Short toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0003038,Fibular hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0005736,Short tibia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0005914,Aplasia/Hypoplasia involving the metacarpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0008368,Tarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0009601,Aplasia/Hypoplasia of the thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0100242,Sarcoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001300,Orphanet,2098,ORPHA:2098,18,HP:0100387,Aplasia of the middle phalanges of the toes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000008,Abnormal morphology of female internal genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000039,Epispadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000069,Abnormality of the ureter,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000072,Hydroureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000190,Abnormal oral frenulum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001161,Hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001241,Capitate-hamate fusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001651,Dextrocardia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001654,Abnormal heart valve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001696,Situs inversus totalis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001800,Hypoplastic toenails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0001829,Foot polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0002097,Emphysema,Occasional (29-5%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0002164,Nail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0002488,Acute leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0002644,Abnormality of pelvic girdle bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0002967,Cubitus valgus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0005048,Synostosis of carpal bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0005561,Abnormality of bone marrow cell morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0006695,Atrioventricular canal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0006703,Aplasia/Hypoplasia of the lungs,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0008921,Neonatal short-limb short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0011065,Conical incisor,Frequent (79-30%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0011362,Abnormal hair quantity,Occasional (29-5%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0011830,Abnormal oral mucosa morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001301,Orphanet,289,ORPHA:289,51,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001305,Orphanet,1429,ORPHA:1429,2,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001305,Orphanet,1429,ORPHA:1429,2,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001313,Orphanet,1313,ORPHA:1313,5,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001313,Orphanet,1313,ORPHA:1313,5,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001313,Orphanet,1313,ORPHA:1313,5,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001313,Orphanet,1313,ORPHA:1313,5,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001313,Orphanet,1313,ORPHA:1313,5,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0000163,Abnormal oral cavity morphology,Very rare (<4-1%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0000491,Keratitis,Very rare (<4-1%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0000656,Ectropion,Very rare (<4-1%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0000987,Atypical scarring of skin,Occasional (29-5%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0001004,Lymphedema,Frequent (79-30%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0001097,Keratoconjunctivitis sicca,Very rare (<4-1%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0002088,Abnormal lung morphology,Very rare (<4-1%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0002718,Recurrent bacterial infections,Occasional (29-5%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0002721,Immunodeficiency,Very rare (<4-1%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0002797,Osteolysis,Very rare (<4-1%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0002814,Abnormality of the lower limb,Very frequent (99-80%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0002817,Abnormality of the upper limb,Occasional (29-5%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0002860,Squamous cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0003550,Predominantly lower limb lymphedema,Frequent (79-30%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0007606,Multiple cutaneous malignancies,Very rare (<4-1%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0011276,Vascular skin abnormality,Occasional (29-5%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0011334,Facial shape deformation,Very rare (<4-1%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0012500,Verrucous papule,Frequent (79-30%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0025474,Erythematous plaque,Frequent (79-30%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0025475,Erythematous macule,Frequent (79-30%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0025527,Serpiginous cutaneous lesion,Frequent (79-30%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0025528,Annular cutaneous lesion,Frequent (79-30%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0031013,Ankylosis,Very rare (<4-1%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0031842,Lymphangiectasis,Occasional (29-5%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0040009,Hyperparakeratosis,Frequent (79-30%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0045059,Hyperkeratotic papule,Frequent (79-30%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001319,Orphanet,182,ORPHA:182,33,HP:0500043,Eyelid retraction,Very rare (<4-1%),TAS,,,,"[PMID:27856522, PMID:30066754, PMID:30113072]",y,y +GARD:0001320,Orphanet,1437,ORPHA:1437,13,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001320,Orphanet,1437,ORPHA:1437,13,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001320,Orphanet,1437,ORPHA:1437,13,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001320,Orphanet,1437,ORPHA:1437,13,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001320,Orphanet,1437,ORPHA:1437,13,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001320,Orphanet,1437,ORPHA:1437,13,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001320,Orphanet,1437,ORPHA:1437,13,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001320,Orphanet,1437,ORPHA:1437,13,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001320,Orphanet,1437,ORPHA:1437,13,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001320,Orphanet,1437,ORPHA:1437,13,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001320,Orphanet,1437,ORPHA:1437,13,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001320,Orphanet,1437,ORPHA:1437,13,HP:0010720,Abnormal hair pattern,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001320,Orphanet,1437,ORPHA:1437,13,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0001852,Sandal gap,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0002251,Aganglionic megacolon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0008678,Renal hypoplasia/aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001322,Orphanet,1438,ORPHA:1438,24,HP:0009748,Large earlobe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000364,Hearing abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0009811,Abnormality of the elbow,Occasional (29-5%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001323,Orphanet,1580,ORPHA:1580,31,HP:0100335,Non-midline cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0000131,Uterine leiomyoma,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0000807,Glandular hypospadias,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0001028,Hemangioma,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0001061,Acne,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0001159,Syndactyly,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0001263,Global developmental delay,Obligate (100%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0001510,Growth delay,Obligate (100%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0001684,Secundum atrial septal defect,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0001810,Dystrophic toenail,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0001999,Abnormal facial shape,Obligate (100%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0003187,Breast hypoplasia,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0004207,Abnormal 5th finger morphology,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0009656,Symphalangism of the thumb,Occasional (29-5%),TAS,,,,[PMID:12599192],y,y +GARD:0001325,Orphanet,1439,ORPHA:1439,27,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,[PMID:12599192],y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0004397,Ectopic anus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0001327,Orphanet,1703,ORPHA:1703,30,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0000027,Azoospermia,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0000719,Inappropriate behavior,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0001004,Lymphedema,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0001067,Neurofibromas,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0001176,Large hands,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0001331,Absent septum pellucidum,Occasional (29-5%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0004691,2-3 toe syndactyly,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0010808,Protruding tongue,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0012810,Wide nasal base,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001336,Orphanet,1446,ORPHA:1446,33,HP:0100797,Toenail dysplasia,Frequent (79-30%),TAS,,,,"[PMID:10204853, PMID:10706359, PMID:12752574, PMID:1424240, PMID:15305353, PMID:15372517, PMID:16059935, PMID:19940762, PMID:20709628, PMID:21271667, PMID:24700634, PMID:25286802, PMID:26043508, PMID:4697858, PMID:519902, PMID:912941]",y,y +GARD:0001339,Orphanet,1447,ORPHA:1447,4,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001339,Orphanet,1447,ORPHA:1447,4,HP:0002817,Abnormality of the upper limb,Occasional (29-5%),TAS,,,,,y,y +GARD:0001339,Orphanet,1447,ORPHA:1447,4,HP:0002997,Abnormality of the ulna,Occasional (29-5%),TAS,,,,,y,y +GARD:0001339,Orphanet,1447,ORPHA:1447,4,HP:0006501,Aplasia/Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000034,Hydrocele testis,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000193,Bifid uvula,Very rare (<4-1%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000294,Low anterior hairline,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000329,Facial hemangioma,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000385,Small earlobe,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000932,Abnormal posterior cranial fossa morphology,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0001238,Slender finger,Frequent (79-30%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0001317,Abnormal cerebellum morphology,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0001357,Plagiocephaly,Very rare (<4-1%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0001360,Holoprosencephaly,Very rare (<4-1%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0001488,Bilateral ptosis,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0001696,Situs inversus totalis,Very rare (<4-1%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0004209,Clinodactyly of the 5th finger,Very rare (<4-1%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0004425,Flat forehead,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0004619,Lumbar kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0007481,Hyperpigmented nevi,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0007687,Unilateral ptosis,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0008846,Severe intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0009088,Speech articulation difficulties,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0009099,Median cleft palate,Very rare (<4-1%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0009237,Short 5th finger,Very rare (<4-1%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0009779,3-4 toe syndactyly,Very rare (<4-1%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0009899,Prominent crus of helix,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0009933,Narrow naris,Frequent (79-30%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001345,Orphanet,1449,ORPHA:1449,58,HP:0200055,Small hand,Occasional (29-5%),TAS,,,,"[PMID:10797441, PMID:10905891, PMID:15337469, PMID:15580634, PMID:1746606, PMID:21303521, PMID:2189730, PMID:23509645, PMID:2395166, PMID:24677512, PMID:26669311, PMID:3150243, PMID:4145271, PMID:6705244, PMID:7172483, PMID:8362903, PMID:8428052]",y,y +GARD:0001347,Orphanet,1450,ORPHA:1450,14,HP:0000069,Abnormality of the ureter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001347,Orphanet,1450,ORPHA:1450,14,HP:0000126,Hydronephrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001347,Orphanet,1450,ORPHA:1450,14,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001347,Orphanet,1450,ORPHA:1450,14,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001347,Orphanet,1450,ORPHA:1450,14,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001347,Orphanet,1450,ORPHA:1450,14,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001347,Orphanet,1450,ORPHA:1450,14,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001347,Orphanet,1450,ORPHA:1450,14,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001347,Orphanet,1450,ORPHA:1450,14,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001347,Orphanet,1450,ORPHA:1450,14,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001347,Orphanet,1450,ORPHA:1450,14,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001347,Orphanet,1450,ORPHA:1450,14,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001347,Orphanet,1450,ORPHA:1450,14,HP:0004097,Deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001347,Orphanet,1450,ORPHA:1450,14,HP:0100830,Round ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0000538,Pseudopapilledema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0000554,Uveitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0000969,Edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001287,Meningitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001367,Abnormal joint morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001476,Delayed closure of the anterior fontanelle,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001872,Abnormality of thrombocytes,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001874,Abnormality of neutrophils,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001911,Abnormal granulocyte morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0002076,Migraine,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0002516,Increased intracranial pressure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0002652,Skeletal dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0011227,Elevated circulating C-reactive protein concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0100533,Inflammatory abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0100654,Retrobulbar optic neuritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001356,Orphanet,1451,ORPHA:1451,44,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0000597,Ophthalmoparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0001519,Disproportionate tall stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0003307,Hyperlordosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0004303,Abnormal muscle fiber morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0004493,Craniofacial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0010628,Facial palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0001358,Orphanet,3068,ORPHA:3068,30,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001359,Orphanet,1160,ORPHA:1160,7,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0001359,Orphanet,1160,ORPHA:1160,7,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001359,Orphanet,1160,ORPHA:1160,7,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,,y,y +GARD:0001359,Orphanet,1160,ORPHA:1160,7,HP:0001541,Ascites,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001359,Orphanet,1160,ORPHA:1160,7,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001359,Orphanet,1160,ORPHA:1160,7,HP:0002242,Abnormal intestine morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001359,Orphanet,1160,ORPHA:1160,7,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0000396,Overfolded helix,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0001162,Postaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0002823,Abnormality of femur morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0002980,Femoral bowing,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0002991,Abnormality of fibula morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0003038,Fibular hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0003097,Short femur,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0005772,Aplasia/Hypoplasia of the tibia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0006443,Patellar aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0006495,Aplasia/Hypoplasia of the ulna,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0009756,Popliteal pterygium,Occasional (29-5%),TAS,,,,,y,y +GARD:0001369,Orphanet,3329,ORPHA:3329,18,HP:0100257,Ectrodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001391,Orphanet,2016,ORPHA:2016,8,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0001391,Orphanet,2016,ORPHA:2016,8,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001391,Orphanet,2016,ORPHA:2016,8,HP:0000232,Everted lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0001391,Orphanet,2016,ORPHA:2016,8,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,,y,y +GARD:0001391,Orphanet,2016,ORPHA:2016,8,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001391,Orphanet,2016,ORPHA:2016,8,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001391,Orphanet,2016,ORPHA:2016,8,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0001391,Orphanet,2016,ORPHA:2016,8,HP:0010285,Oral synechia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001392,Orphanet,2015,ORPHA:2015,11,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:8110419],y,y +GARD:0001392,Orphanet,2015,ORPHA:2015,11,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,[PMID:8110419],y,y +GARD:0001392,Orphanet,2015,ORPHA:2015,11,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:8110419],y,y +GARD:0001392,Orphanet,2015,ORPHA:2015,11,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:8110419],y,y +GARD:0001392,Orphanet,2015,ORPHA:2015,11,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,[PMID:8110419],y,y +GARD:0001392,Orphanet,2015,ORPHA:2015,11,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,[PMID:8110419],y,y +GARD:0001392,Orphanet,2015,ORPHA:2015,11,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:8110419],y,y +GARD:0001392,Orphanet,2015,ORPHA:2015,11,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:8110419],y,y +GARD:0001392,Orphanet,2015,ORPHA:2015,11,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,[PMID:8110419],y,y +GARD:0001392,Orphanet,2015,ORPHA:2015,11,HP:0003468,Abnormal vertebral morphology,Frequent (79-30%),TAS,,,,[PMID:8110419],y,y +GARD:0001392,Orphanet,2015,ORPHA:2015,11,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:8110419],y,y +GARD:0001393,Orphanet,2010,ORPHA:2010,9,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001393,Orphanet,2010,ORPHA:2010,9,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001393,Orphanet,2010,ORPHA:2010,9,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001393,Orphanet,2010,ORPHA:2010,9,HP:0003019,Abnormality of the wrist,Frequent (79-30%),TAS,,,,,y,y +GARD:0001393,Orphanet,2010,ORPHA:2010,9,HP:0003028,Abnormality of the ankles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001393,Orphanet,2010,ORPHA:2010,9,HP:0008368,Tarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001393,Orphanet,2010,ORPHA:2010,9,HP:0008513,Bilateral conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001393,Orphanet,2010,ORPHA:2010,9,HP:0009702,Carpal synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001393,Orphanet,2010,ORPHA:2010,9,HP:0012225,Oligodontia of primary teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0002676,Cloverleaf skull,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0010880,Increased nuchal translucency,Frequent (79-30%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001402,Orphanet,93274,ORPHA:93274,35,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000276,Long face,Frequent (79-30%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000588,Optic disc coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000657,Oculomotor apraxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0001162,Postaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0001320,Cerebellar vermis hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0002085,Occipital encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0002104,Apnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0002612,Congenital hepatic fibrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0002793,Abnormal pattern of respiration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0002896,Neoplasm of the liver,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0005248,Intrahepatic biliary atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0001410,Orphanet,1454,ORPHA:1454,48,HP:0100626,Chronic hepatic failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0001413,Orphanet,1911,ORPHA:1911,8,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,,y,y +GARD:0001413,Orphanet,1911,ORPHA:1911,8,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001413,Orphanet,1911,ORPHA:1911,8,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001413,Orphanet,1911,ORPHA:1911,8,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,,y,y +GARD:0001413,Orphanet,1911,ORPHA:1911,8,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0001413,Orphanet,1911,ORPHA:1911,8,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0001413,Orphanet,1911,ORPHA:1911,8,HP:0011100,Intestinal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001413,Orphanet,1911,ORPHA:1911,8,HP:0100657,Thoracoabdominal eventration,Occasional (29-5%),TAS,,,,,y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000026,Male hypogonadism,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000028,Cryptorchidism,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000331,Short chin,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000528,Anophthalmia,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000580,Pigmentary retinopathy,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000633,Decreased lacrimation,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000674,Anodontia,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000680,Delayed eruption of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0001034,Hypermelanotic macule,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0002135,Basal ganglia calcification,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0003134,Abnormality of peripheral nerve conduction,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0003138,Increased blood urea nitrogen,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0004370,Abnormality of temperature regulation,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0004463,Absent brainstem auditory responses,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0005328,Progeroid facial appearance,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0006297,Enamel hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0006313,Widely spaced primary teeth,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0006334,Hypoplasia of the primary teeth,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0008366,Contractures involving the joints of the feet,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001415,Orphanet,90321,ORPHA:90321,58,HP:0100699,Scarring,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:30252254]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000011,Neurogenic bladder,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000016,Urinary retention,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000072,Hydroureter,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000089,Renal hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000122,Unilateral renal agenesis,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000253,Progressive microcephaly,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000331,Short chin,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000460,Narrow nose,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000482,Microcornea,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000543,Optic disc pallor,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000546,Retinal degeneration,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000556,Retinal dystrophy,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000568,Microphthalmia,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000573,Retinal hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0001097,Keratoconjunctivitis sicca,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0001105,Retinal atrophy,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0001371,Flexion contracture,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0001530,Mild postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0001638,Cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0001744,Splenomegaly,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0002135,Basal ganglia calcification,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0002216,Premature graying of hair,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0002344,Progressive neurologic deterioration,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0002446,Astrocytosis,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0002461,Dense calcifications in the cerebellar dentate nucleus,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0002616,Aortic root aneurysm,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0003134,Abnormality of peripheral nerve conduction,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0004934,Vascular calcification,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0005181,Premature coronary artery atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0006297,Enamel hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0007108,Demyelinating peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0007346,Subcortical white matter calcifications,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0008615,Adult onset sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0011359,Dry hair,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0011527,Lentiglobus,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0012444,Brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0012447,Abnormal myelination,Very frequent (99-80%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0012762,Cerebral white matter atrophy,Frequent (79-30%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0012804,Corneal ulceration,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0032263,Increased blood pressure,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0100309,Subdural hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001417,Orphanet,90324,ORPHA:90324,74,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:25851792, PMID:27507608]",y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0000072,Hydroureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0000396,Overfolded helix,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0001374,Congenital hip dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0001600,Abnormality of the larynx,Occasional (29-5%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0002644,Abnormality of pelvic girdle bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0003417,Coronal cleft vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0004122,Midline defect of the nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0005242,Extrahepatic biliary duct atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0009901,Crumpled ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001418,Orphanet,1458,ORPHA:1458,33,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000026,Male hypogonadism,Very rare (<4-1%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000028,Cryptorchidism,Very rare (<4-1%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000331,Short chin,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000528,Anophthalmia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000674,Anodontia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0000680,Delayed eruption of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0001034,Hypermelanotic macule,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0002172,Postural instability,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0002509,Limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0002545,Patchy demyelination of subcortical white matter,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0005328,Progeroid facial appearance,Frequent (79-30%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0006297,Enamel hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0006313,Widely spaced primary teeth,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0006334,Hypoplasia of the primary teeth,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0007346,Subcortical white matter calcifications,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001420,Orphanet,90322,ORPHA:90322,41,HP:0100699,Scarring,Occasional (29-5%),TAS,,,,"[PMID:20301516, PMID:30252254]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0000360,Tinnitus,Very frequent (99-80%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0000491,Keratitis,Very frequent (99-80%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0001751,Vestibular dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0001894,Thrombocytosis,Frequent (79-30%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0002321,Vertigo,Very frequent (99-80%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0002633,Vasculitis,Occasional (29-5%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0005310,Large vessel vasculitis,Occasional (29-5%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0100532,Scleritis,Occasional (29-5%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0100533,Inflammatory abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001421,Orphanet,1467,ORPHA:1467,20,HP:0100534,Episcleritis,Occasional (29-5%),TAS,,,,"[PMID:25854487, PMID:3486332, PMID:6969345]",y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0000262,Turricephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0000592,Blue sclerae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0001334,Communicating hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0002645,Wormian bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0006367,Crumpled long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001425,Orphanet,2050,ORPHA:2050,26,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0000364,Hearing abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0001374,Congenital hip dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0001702,Abnormal tricuspid valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0002815,Abnormality of the knee,Occasional (29-5%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0004097,Deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0010759,Prominence of the premaxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0001428,Orphanet,2412,ORPHA:2412,20,HP:0011328,Abnormality of fontanelles,Occasional (29-5%),TAS,,,,,y,y +GARD:0001437,Orphanet,1471,ORPHA:1471,9,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001437,Orphanet,1471,ORPHA:1471,9,HP:0000567,Chorioretinal coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001437,Orphanet,1471,ORPHA:1471,9,HP:0001817,Absent fingernail,Frequent (79-30%),TAS,,,,,y,y +GARD:0001437,Orphanet,1471,ORPHA:1471,9,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0001437,Orphanet,1471,ORPHA:1471,9,HP:0005831,Type B brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001437,Orphanet,1471,ORPHA:1471,9,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001437,Orphanet,1471,ORPHA:1471,9,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0001437,Orphanet,1471,ORPHA:1471,9,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0001437,Orphanet,1471,ORPHA:1471,9,HP:0100798,Fingernail dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0000567,Chorioretinal coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0000627,Posterior embryotoxon,Occasional (29-5%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0002744,Bilateral cleft lip and palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0001440,Orphanet,1473,ORPHA:1473,17,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0000528,Anophthalmia,Very frequent (99-80%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0000647,Sclerocornea,Occasional (29-5%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0000878,11 pairs of ribs,Occasional (29-5%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0002032,Esophageal atresia,Very frequent (99-80%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0002575,Tracheoesophageal fistula,Very frequent (99-80%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0002937,Hemivertebrae,Occasional (29-5%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001443,Orphanet,77298,ORPHA:77298,22,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,"[PMID:15578584, PMID:20301477]",y,y +GARD:0001446,Orphanet,1198,ORPHA:1198,8,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0001446,Orphanet,1198,ORPHA:1198,8,HP:0001543,Gastroschisis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001446,Orphanet,1198,ORPHA:1198,8,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,,y,y +GARD:0001446,Orphanet,1198,ORPHA:1198,8,HP:0003363,Abdominal situs inversus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001446,Orphanet,1198,ORPHA:1198,8,HP:0004398,Peptic ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001446,Orphanet,1198,ORPHA:1198,8,HP:0010448,Colonic atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001446,Orphanet,1198,ORPHA:1198,8,HP:0100016,Abnormality of mesentery morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001446,Orphanet,1198,ORPHA:1198,8,HP:0100867,Duodenal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0001667,Right ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0001674,Complete atrioventricular canal defect,Obligate (100%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0001678,Atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0001708,Right ventricular failure,Frequent (79-30%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0003115,Abnormal EKG,Very frequent (99-80%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0004890,Elevated pulmonary artery pressure,Occasional (29-5%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0005120,Abnormal cardiac atrium morphology,Very frequent (99-80%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0006532,Recurrent pneumonia,Frequent (79-30%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0010445,Primum atrial septal defect,Obligate (100%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0011712,Right bundle branch block,Occasional (29-5%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0012382,Left-to-right shunt,Very frequent (99-80%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0025447,Displacement of the papillary muscles,Very frequent (99-80%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0030828,Wheezing,Frequent (79-30%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0030830,Crackles,Occasional (29-5%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0030848,Elevated jugular venous pressure,Occasional (29-5%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0030864,Intercostal retractions,Frequent (79-30%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0030950,Pulmonary venous hypertension,Very frequent (99-80%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0030973,Postexertional malaise,Very frequent (99-80%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0031595,Abnormal P wave,Occasional (29-5%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0031650,Abnormal atrioventricular valve physiology,Very frequent (99-80%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0031658,Third heart sound,Occasional (29-5%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0031664,Systolic heart murmur,Very frequent (99-80%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001454,Orphanet,1329,ORPHA:1329,34,HP:0100786,Hypersomnia,Occasional (29-5%),TAS,,,,"[PMID:16722604, PMID:32965865]",y,y +GARD:0001460,Orphanet,3216,ORPHA:3216,13,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0001460,Orphanet,3216,ORPHA:3216,13,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0001460,Orphanet,3216,ORPHA:3216,13,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001460,Orphanet,3216,ORPHA:3216,13,HP:0000377,Abnormal pinna morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001460,Orphanet,3216,ORPHA:3216,13,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,,y,y +GARD:0001460,Orphanet,3216,ORPHA:3216,13,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0001460,Orphanet,3216,ORPHA:3216,13,HP:0000402,Stenosis of the external auditory canal,Occasional (29-5%),TAS,,,,,y,y +GARD:0001460,Orphanet,3216,ORPHA:3216,13,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001460,Orphanet,3216,ORPHA:3216,13,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0001460,Orphanet,3216,ORPHA:3216,13,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0001460,Orphanet,3216,ORPHA:3216,13,HP:0004299,Hernia of the abdominal wall,Occasional (29-5%),TAS,,,,,y,y +GARD:0001460,Orphanet,3216,ORPHA:3216,13,HP:0004452,Abnormality of the middle ear ossicles,Frequent (79-30%),TAS,,,,,y,y +GARD:0001460,Orphanet,3216,ORPHA:3216,13,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001463,Orphanet,1873,ORPHA:1873,9,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001463,Orphanet,1873,ORPHA:1873,9,HP:0000551,Color vision defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001463,Orphanet,1873,ORPHA:1873,9,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001463,Orphanet,1873,ORPHA:1873,9,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001463,Orphanet,1873,ORPHA:1873,9,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0001463,Orphanet,1873,ORPHA:1873,9,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001463,Orphanet,1873,ORPHA:1873,9,HP:0000705,Amelogenesis imperfecta,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001463,Orphanet,1873,ORPHA:1873,9,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001463,Orphanet,1873,ORPHA:1873,9,HP:0011073,Abnormality of dental color,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0000037,Male pseudohermaphroditism,Occasional (29-5%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0000053,Macroorchidism,Occasional (29-5%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0000055,Abnormality of female external genitalia,Frequent (79-30%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0000841,Hyperactive renin-angiotensin system,Frequent (79-30%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0002153,Hyperkalemia,Frequent (79-30%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0003002,Breast carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0003154,Increased circulating ACTH level,Very frequent (99-80%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0008163,Decreased circulating cortisol level,Frequent (79-30%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0008221,Adrenal hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0008730,"Female external genitalia in individual with 46,XY karyotype",Very frequent (99-80%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0012114,Endometrial carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0030347,Abnormal circulating androgen level,Frequent (79-30%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001465,Orphanet,90790,ORPHA:90790,25,HP:0040187,Neonatal sepsis,Very rare (<4-1%),TAS,,,,"[PMID:32835366, PMID:33227378]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0000026,Male hypogonadism,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0000033,"Ambiguous genitalia, male",Occasional (29-5%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0000138,Ovarian cyst,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0000144,Decreased fertility,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0000151,Aplasia of the uterus,Occasional (29-5%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0000858,Irregular menstruation,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0002221,Absent axillary hair,Occasional (29-5%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0002555,Absent pubic hair,Occasional (29-5%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0002900,Hypokalemia,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0003251,Male infertility,Occasional (29-5%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0003351,Decreased circulating renin level,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0004319,Decreased circulating aldosterone level,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0008163,Decreased circulating cortisol level,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0008187,Absence of secondary sex characteristics,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0008197,Absence of pubertal development,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0008207,Primary adrenal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0008232,Elevated circulating follicle stimulating hormone level,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0008258,Congenital adrenal hyperplasia,Very frequent (99-80%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0008689,Bilateral cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0008730,"Female external genitalia in individual with 46,XY karyotype",Occasional (29-5%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0010465,Precocious puberty in females,Occasional (29-5%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0011749,Adrenocorticotropic hormone excess,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0011969,Elevated circulating luteinizing hormone level,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0031074,Abnormal response to ACTH stimulation test,Very frequent (99-80%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0031216,Increased circulating progesterone,Frequent (79-30%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0032330,Increased urinary 11-deoxycorticosterone level,Very frequent (99-80%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0032362,Increased circulating corticosterone level,Very frequent (99-80%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0040314,Blind vagina,Occasional (29-5%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001469,Orphanet,90793,ORPHA:90793,41,HP:0500022,Abnormal circulating dehydroepiandrosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:20170344, PMID:26862015]",y,y +GARD:0001474,Orphanet,1216,ORPHA:1216,5,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001474,Orphanet,1216,ORPHA:1216,5,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001474,Orphanet,1216,ORPHA:1216,5,HP:0003693,Distal amyotrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001474,Orphanet,1216,ORPHA:1216,5,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001474,Orphanet,1216,ORPHA:1216,5,HP:0008964,Nonprogressive muscular atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001475,Orphanet,2040,ORPHA:2040,2,HP:0001392,Abnormality of the liver,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001475,Orphanet,2040,ORPHA:2040,2,HP:0002777,Tracheal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001480,Orphanet,294,ORPHA:294,7,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001480,Orphanet,294,ORPHA:294,7,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001480,Orphanet,294,ORPHA:294,7,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001480,Orphanet,294,ORPHA:294,7,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001480,Orphanet,294,ORPHA:294,7,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001480,Orphanet,294,ORPHA:294,7,HP:0001928,Abnormality of coagulation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001480,Orphanet,294,ORPHA:294,7,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001481,Orphanet,2140,ORPHA:2140,8,HP:0000776,Congenital diaphragmatic hernia,Very frequent (99-80%),TAS,,,,"[PMID:15937941, PMID:1907381, PMID:22214468, PMID:7815446]",y,y +GARD:0001481,Orphanet,2140,ORPHA:2140,8,HP:0000884,Prominent sternum,Frequent (79-30%),TAS,,,,"[PMID:15937941, PMID:1907381, PMID:22214468, PMID:7815446]",y,y +GARD:0001481,Orphanet,2140,ORPHA:2140,8,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:15937941, PMID:1907381, PMID:22214468, PMID:7815446]",y,y +GARD:0001481,Orphanet,2140,ORPHA:2140,8,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:15937941, PMID:1907381, PMID:22214468, PMID:7815446]",y,y +GARD:0001481,Orphanet,2140,ORPHA:2140,8,HP:0002566,Intestinal malrotation,Frequent (79-30%),TAS,,,,"[PMID:15937941, PMID:1907381, PMID:22214468, PMID:7815446]",y,y +GARD:0001481,Orphanet,2140,ORPHA:2140,8,HP:0010315,Aplasia/Hypoplasia of the diaphragm,Frequent (79-30%),TAS,,,,"[PMID:15937941, PMID:1907381, PMID:22214468, PMID:7815446]",y,y +GARD:0001481,Orphanet,2140,ORPHA:2140,8,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:15937941, PMID:1907381, PMID:22214468, PMID:7815446]",y,y +GARD:0001481,Orphanet,2140,ORPHA:2140,8,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,"[PMID:15937941, PMID:1907381, PMID:22214468, PMID:7815446]",y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000080,Abnormality of reproductive system physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000246,Sinusitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000458,Anosmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000492,Abnormal eyelid morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000716,Depression,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000820,Abnormality of the thyroid gland,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000830,Anterior hypopituitarism,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0000853,Goiter,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0001071,Angiokeratoma corporis diffusum,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0001595,Abnormal hair morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0001615,Hoarse cry,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0001697,Abnormal pericardium morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0002045,Hypothermia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0004491,Large posterior fontanelle,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0006579,Prolonged neonatal jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0008188,Thyroid dysgenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001487,Orphanet,442,ORPHA:442,50,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0001489,Orphanet,2271,ORPHA:2271,8,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001489,Orphanet,2271,ORPHA:2271,8,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001489,Orphanet,2271,ORPHA:2271,8,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001489,Orphanet,2271,ORPHA:2271,8,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001489,Orphanet,2271,ORPHA:2271,8,HP:0002445,Tetraplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001489,Orphanet,2271,ORPHA:2271,8,HP:0003011,Abnormality of the musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001489,Orphanet,2271,ORPHA:2271,8,HP:0007021,Pain insensitivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001489,Orphanet,2271,ORPHA:2271,8,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001500,Orphanet,839,ORPHA:839,5,HP:0000091,Abnormal renal tubule morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001500,Orphanet,839,ORPHA:839,5,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001500,Orphanet,839,ORPHA:839,5,HP:0000100,Nephrotic syndrome,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001500,Orphanet,839,ORPHA:839,5,HP:0000696,Delayed eruption of permanent teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001500,Orphanet,839,ORPHA:839,5,HP:0004639,Elevated amniotic fluid alpha-fetoprotein,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001512,Orphanet,972,ORPHA:972,10,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001512,Orphanet,972,ORPHA:972,10,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0001512,Orphanet,972,ORPHA:972,10,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001512,Orphanet,972,ORPHA:972,10,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,,y,y +GARD:0001512,Orphanet,972,ORPHA:972,10,HP:0001350,Slurred speech,Frequent (79-30%),TAS,,,,,y,y +GARD:0001512,Orphanet,972,ORPHA:972,10,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001512,Orphanet,972,ORPHA:972,10,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001512,Orphanet,972,ORPHA:972,10,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001512,Orphanet,972,ORPHA:972,10,HP:0003803,Type 1 muscle fiber predominance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001512,Orphanet,972,ORPHA:972,10,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0001345,Psychotic mentation,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0002266,Focal clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0002333,Motor deterioration,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0002349,Focal aware seizure,Frequent (79-30%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0002384,Focal impaired awareness seizure,Frequent (79-30%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0002487,Hyperkinetic movements,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0006813,Focal hemiclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0007270,Atypical absence seizure,Frequent (79-30%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0007359,Focal-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0009088,Speech articulation difficulties,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0011147,Typical absence seizure,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0011150,Myoclonic absence seizure,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0011153,Focal motor seizure,Frequent (79-30%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0011182,Interictal epileptiform activity,Very frequent (99-80%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0012001,EEG with generalized polyspikes,Occasional (29-5%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0012010,EEG with frontal focal spike waves,Frequent (79-30%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0012557,EEG with centrotemporal focal spike waves,Frequent (79-30%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0031491,Continuous spike and waves during slow sleep,Very frequent (99-80%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001513,Orphanet,725,ORPHA:725,30,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:27683935, PMID:31262717, PMID:33132036]",y,y +GARD:0001515,Orphanet,1484,ORPHA:1484,8,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001515,Orphanet,1484,ORPHA:1484,8,HP:0000632,Lacrimation abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001515,Orphanet,1484,ORPHA:1484,8,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001515,Orphanet,1484,ORPHA:1484,8,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001515,Orphanet,1484,ORPHA:1484,8,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001515,Orphanet,1484,ORPHA:1484,8,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001515,Orphanet,1484,ORPHA:1484,8,HP:0100335,Non-midline cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001515,Orphanet,1484,ORPHA:1484,8,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000073,Ureteral duplication,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000176,Submucous cleft hard palate,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000465,Webbed neck,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000621,Entropion,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000695,Natal tooth,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000883,Thin ribs,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0001196,Short umbilical cord,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0001558,Decreased fetal movement,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0001643,Patent ductus arteriosus,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0001651,Dextrocardia,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0001669,Transposition of the great arteries,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0001799,Short nail,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0002089,Pulmonary hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0002597,Abnormality of the vasculature,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0002828,Multiple joint contractures,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0004331,Decreased skull ossification,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0004334,Dermal atrophy,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0004388,Microcolon,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0004492,Widely patent fontanelles and sutures,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0004970,Ascending tubular aorta aneurysm,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0005253,Increased anterioposterior diameter of thorax,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0005267,Premature delivery because of cervical insufficiency or membrane fragility,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0005595,Generalized hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0005659,Thoracic kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0006266,Small placenta,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0006267,Large placenta,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0006645,Thin clavicles,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0006710,Aplasia/Hypoplasia of the clavicles,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0007543,Epidermal hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0007592,Aplasia/Hypoplastia of the eccrine sweat glands,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0008244,Congenital adrenal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0009924,Aplasia/Hypoplasia involving the nose,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0010219,Structural foot deformity,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0010648,Dermal translucency,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0012478,Temporomandibular joint ankylosis,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0012745,Short palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0025354,Abnormal cellular phenotype,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0030053,Stiff skin,Obligate (100%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0040189,Scaling skin,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0200041,Skin erosion,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001516,Orphanet,1662,ORPHA:1662,58,HP:0200102,Sparse or absent eyelashes,Very frequent (99-80%),TAS,,,,"[PMID:15317753, PMID:15843403, PMID:15897383, PMID:21127399, PMID:24169522, PMID:3840649, PMID:8291564]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0002104,Apnea,Frequent (79-30%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0002133,Status epilepticus,Very rare (<4-1%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0002169,Clonus,Frequent (79-30%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0002266,Focal clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0007359,Focal-onset seizure,Very frequent (99-80%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0010818,Generalized tonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0011154,Focal autonomic seizure,Frequent (79-30%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0011167,Focal tonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0011171,Simple febrile seizure,Occasional (29-5%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0011188,Focal EEG discharges with secondary generalization,Very frequent (99-80%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0011468,Facial tics,Occasional (29-5%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0031535,Increased theta frequency activity in EEG,Very rare (<4-1%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0032556,Circumoral cyanosis,Frequent (79-30%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001519,Orphanet,1949,ORPHA:1949,16,HP:0045084,Limb myoclonus,Frequent (79-30%),TAS,,,,"[PMID:20437616, PMID:30782577, PMID:31418850]",y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000015,Bladder diverticulum,Occasional (29-5%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000023,Inguinal hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000269,Prominent occiput,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000298,Mask-like facies,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000934,Chondrocalcinosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000944,Abnormality of the metaphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0000987,Atypical scarring of skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0002045,Hypothermia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0002170,Intracranial hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0002224,Woolly hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0002617,Vascular dilatation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0002645,Wormian bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0005293,Venous insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0005344,Abnormal carotid artery morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0006579,Prolonged neonatal jaundice,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0007420,Spontaneous hematomas,Occasional (29-5%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0008368,Tarsal synostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0100545,Arterial stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0100777,Exostoses,Frequent (79-30%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0100790,Hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001521,Orphanet,565,ORPHA:565,55,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001522,Orphanet,1551,ORPHA:1551,12,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0001522,Orphanet,1551,ORPHA:1551,12,HP:0001061,Acne,Frequent (79-30%),TAS,,,,,y,y +GARD:0001522,Orphanet,1551,ORPHA:1551,12,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0001522,Orphanet,1551,ORPHA:1551,12,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001522,Orphanet,1551,ORPHA:1551,12,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001522,Orphanet,1551,ORPHA:1551,12,HP:0002002,Deep philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0001522,Orphanet,1551,ORPHA:1551,12,HP:0002234,Early balding,Occasional (29-5%),TAS,,,,,y,y +GARD:0001522,Orphanet,1551,ORPHA:1551,12,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0001522,Orphanet,1551,ORPHA:1551,12,HP:0005019,Diaphyseal thickening,Occasional (29-5%),TAS,,,,,y,y +GARD:0001522,Orphanet,1551,ORPHA:1551,12,HP:0008060,Aplasia/Hypoplasia of the fovea,Occasional (29-5%),TAS,,,,,y,y +GARD:0001522,Orphanet,1551,ORPHA:1551,12,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001522,Orphanet,1551,ORPHA:1551,12,HP:0011967,Decreased circulating copper concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001525,Orphanet,3177,ORPHA:3177,9,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,[PMID:3872072],y,y +GARD:0001525,Orphanet,3177,ORPHA:3177,9,HP:0001131,Corneal dystrophy,Frequent (79-30%),TAS,,,,[PMID:3872072],y,y +GARD:0001525,Orphanet,3177,ORPHA:3177,9,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:3872072],y,y +GARD:0001525,Orphanet,3177,ORPHA:3177,9,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,[PMID:3872072],y,y +GARD:0001525,Orphanet,3177,ORPHA:3177,9,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:3872072],y,y +GARD:0001525,Orphanet,3177,ORPHA:3177,9,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,[PMID:3872072],y,y +GARD:0001525,Orphanet,3177,ORPHA:3177,9,HP:0002503,Spinocerebellar tract degeneration,Frequent (79-30%),TAS,,,,[PMID:3872072],y,y +GARD:0001525,Orphanet,3177,ORPHA:3177,9,HP:0007006,Dorsal column degeneration,Frequent (79-30%),TAS,,,,[PMID:3872072],y,y +GARD:0001525,Orphanet,3177,ORPHA:3177,9,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,[PMID:3872072],y,y +GARD:0001529,Orphanet,1490,ORPHA:1490,5,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001529,Orphanet,1490,ORPHA:1490,5,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001529,Orphanet,1490,ORPHA:1490,5,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001529,Orphanet,1490,ORPHA:1490,5,HP:0001131,Corneal dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001529,Orphanet,1490,ORPHA:1490,5,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0000230,Gingivitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0000662,Nyctalopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0001131,Corneal dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0001817,Absent fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,,y,y +GARD:0001531,Orphanet,3194,ORPHA:3194,20,HP:0012047,Hemeralopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0002617,Vascular dilatation,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0003115,Abnormal EKG,Frequent (79-30%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0005133,Right ventricular dilatation,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0005162,Abnormal left ventricular function,Frequent (79-30%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0006689,Bacterial endocarditis,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0012764,Orthopnea,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0030848,Elevated jugular venous pressure,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0030882,Coronary artery aneurysm,Occasional (29-5%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0031664,Systolic heart murmur,Frequent (79-30%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001533,Orphanet,2041,ORPHA:2041,27,HP:0031670,Continuous heart murmur,Frequent (79-30%),TAS,,,,"[PMID:26381209, PMID:28740588, PMID:30230248, PMID:30560560]",y,y +GARD:0001537,Orphanet,1496,ORPHA:1496,14,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001537,Orphanet,1496,ORPHA:1496,14,HP:0000262,Turricephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001537,Orphanet,1496,ORPHA:1496,14,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001537,Orphanet,1496,ORPHA:1496,14,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001537,Orphanet,1496,ORPHA:1496,14,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001537,Orphanet,1496,ORPHA:1496,14,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001537,Orphanet,1496,ORPHA:1496,14,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001537,Orphanet,1496,ORPHA:1496,14,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001537,Orphanet,1496,ORPHA:1496,14,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001537,Orphanet,1496,ORPHA:1496,14,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001537,Orphanet,1496,ORPHA:1496,14,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001537,Orphanet,1496,ORPHA:1496,14,HP:0002410,Aqueductal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001537,Orphanet,1496,ORPHA:1496,14,HP:0004374,Hemiplegia/hemiparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001537,Orphanet,1496,ORPHA:1496,14,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001627,Abnormal heart morphology,Very frequent (99-80%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001642,Pulmonic stenosis,Frequent (79-30%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001651,Dextrocardia,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001662,Bradycardia,Frequent (79-30%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001696,Situs inversus totalis,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001702,Abnormal tricuspid valve morphology,Very frequent (99-80%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001709,Third degree atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001716,Wolff-Parkinson-White syndrome,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0001750,Single ventricle,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0003388,Easy fatigability,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0004749,Atrial flutter,Very rare (<4-1%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0004755,Supraventricular tachycardia,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0004756,Ventricular tachycardia,Very rare (<4-1%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0004935,Pulmonary artery atresia,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0005150,Abnormal atrioventricular conduction,Frequent (79-30%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0005185,Global systolic dysfunction,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0006699,Premature atrial contractions,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0006705,Abnormal atrioventricular valve morphology,Very frequent (99-80%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0010316,Ebstein anomaly of the tricuspid valve,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011103,Abnormal left ventricular outflow tract morphology,Very frequent (99-80%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011538,Atrial situs inversus,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011539,Atrial situs ambiguous,Frequent (79-30%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011552,Ambiguous atrioventricular connection,Frequent (79-30%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011553,Discordant atrioventricular connection,Very frequent (99-80%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011581,Double outlet left ventricle,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011590,Double aortic arch,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011599,Mesocardia,Very rare (<4-1%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011621,Gerbode ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011663,Right ventricular cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011667,Bilateral superior vena cava with bridging vein,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011682,Perimembranous ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011688,Supraventricular tachycardia with an accessory connection mediated pathway,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011704,Sick sinus syndrome,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011705,First degree atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0011707,Mobitz I atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0012537,Food intolerance,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0012722,Heart block,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0031546,Cardiac conduction abnormality,Frequent (79-30%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001544,Orphanet,216694,ORPHA:216694,49,HP:0031567,Abnormal aortic valve cusp morphology,Occasional (29-5%),TAS,,,,"[PMID:21569592, PMID:29476598, PMID:30760124, PMID:31027566, PMID:31266912]",y,y +GARD:0001548,Orphanet,1389,ORPHA:1389,14,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001548,Orphanet,1389,ORPHA:1389,14,HP:0000308,Microretrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001548,Orphanet,1389,ORPHA:1389,14,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001548,Orphanet,1389,ORPHA:1389,14,HP:0000649,Abnormality of visual evoked potentials,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001548,Orphanet,1389,ORPHA:1389,14,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001548,Orphanet,1389,ORPHA:1389,14,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001548,Orphanet,1389,ORPHA:1389,14,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001548,Orphanet,1389,ORPHA:1389,14,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001548,Orphanet,1389,ORPHA:1389,14,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001548,Orphanet,1389,ORPHA:1389,14,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001548,Orphanet,1389,ORPHA:1389,14,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001548,Orphanet,1389,ORPHA:1389,14,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001548,Orphanet,1389,ORPHA:1389,14,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001548,Orphanet,1389,ORPHA:1389,14,HP:0100704,Cerebral visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000189,Narrow palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000474,Thickened nuchal skin fold,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000563,Keratoconus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000951,Abnormality of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000956,Acanthosis nigricans,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0001531,Failure to thrive in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0001595,Abnormal hair morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0001598,Concave nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0001634,Mitral valve prolapse,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0001642,Pulmonic stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0001800,Hypoplastic toenails,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0001814,Deep-set nails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0002224,Woolly hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0004690,Thickened Achilles tendon,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0007440,Generalized hyperpigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0009465,Ulnar deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0009748,Large earlobe,Occasional (29-5%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0012740,Papilloma,Frequent (79-30%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0100679,Lack of skin elasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001550,Orphanet,3071,ORPHA:3071,48,HP:0100729,Large face,Occasional (29-5%),TAS,,,,,y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0000256,Macrocephaly,Obligate (100%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0000402,Stenosis of the external auditory canal,Frequent (79-30%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0000470,Short neck,Obligate (100%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0000882,Hypoplastic scapulae,Obligate (100%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0000946,Hypoplastic ilia,Obligate (100%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0001156,Brachydactyly,Obligate (100%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0001374,Congenital hip dislocation,Obligate (100%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0002693,Abnormality of the skull base,Very frequent (99-80%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0002987,Elbow flexion contracture,Obligate (100%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0003041,Humeroradial synostosis,Obligate (100%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0003097,Short femur,Obligate (100%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0003943,Abnormality of the joint spaces of the elbow,Obligate (100%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0004987,Mesomelic leg shortening,Obligate (100%),TAS,,,,[PMID:19068278],y,y +GARD:0001555,Orphanet,93333,ORPHA:93333,24,HP:0005989,Redundant neck skin,Frequent (79-30%),TAS,,,,[PMID:19068278],y,y +GARD:0001558,Orphanet,1508,ORPHA:1508,9,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001558,Orphanet,1508,ORPHA:1508,9,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001558,Orphanet,1508,ORPHA:1508,9,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001558,Orphanet,1508,ORPHA:1508,9,HP:0002823,Abnormality of femur morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001558,Orphanet,1508,ORPHA:1508,9,HP:0002827,Hip dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001558,Orphanet,1508,ORPHA:1508,9,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001558,Orphanet,1508,ORPHA:1508,9,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001558,Orphanet,1508,ORPHA:1508,9,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001558,Orphanet,1508,ORPHA:1508,9,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001561,Orphanet,202,ORPHA:202,11,HP:0000035,Abnormal testis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001561,Orphanet,202,ORPHA:202,11,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001561,Orphanet,202,ORPHA:202,11,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001561,Orphanet,202,ORPHA:202,11,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0001561,Orphanet,202,ORPHA:202,11,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001561,Orphanet,202,ORPHA:202,11,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0001561,Orphanet,202,ORPHA:202,11,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001561,Orphanet,202,ORPHA:202,11,HP:0002299,Brittle hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0001561,Orphanet,202,ORPHA:202,11,HP:0003777,Pili torti,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001561,Orphanet,202,ORPHA:202,11,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001561,Orphanet,202,ORPHA:202,11,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001564,Orphanet,1525,ORPHA:1525,14,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001564,Orphanet,1525,ORPHA:1525,14,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001564,Orphanet,1525,ORPHA:1525,14,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,,y,y +GARD:0001564,Orphanet,1525,ORPHA:1525,14,HP:0001070,Mottled pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001564,Orphanet,1525,ORPHA:1525,14,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001564,Orphanet,1525,ORPHA:1525,14,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,,y,y +GARD:0001564,Orphanet,1525,ORPHA:1525,14,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0001564,Orphanet,1525,ORPHA:1525,14,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001564,Orphanet,1525,ORPHA:1525,14,HP:0002815,Abnormality of the knee,Frequent (79-30%),TAS,,,,,y,y +GARD:0001564,Orphanet,1525,ORPHA:1525,14,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001564,Orphanet,1525,ORPHA:1525,14,HP:0002992,Abnormality of tibia morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001564,Orphanet,1525,ORPHA:1525,14,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001564,Orphanet,1525,ORPHA:1525,14,HP:0004097,Deviation of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0001564,Orphanet,1525,ORPHA:1525,14,HP:0100760,Clubbing of toes,Frequent (79-30%),TAS,,,,,y,y +GARD:0001567,Orphanet,1513,ORPHA:1513,13,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001567,Orphanet,1513,ORPHA:1513,13,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001567,Orphanet,1513,ORPHA:1513,13,HP:0000402,Stenosis of the external auditory canal,Frequent (79-30%),TAS,,,,,y,y +GARD:0001567,Orphanet,1513,ORPHA:1513,13,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001567,Orphanet,1513,ORPHA:1513,13,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001567,Orphanet,1513,ORPHA:1513,13,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001567,Orphanet,1513,ORPHA:1513,13,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001567,Orphanet,1513,ORPHA:1513,13,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001567,Orphanet,1513,ORPHA:1513,13,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001567,Orphanet,1513,ORPHA:1513,13,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001567,Orphanet,1513,ORPHA:1513,13,HP:0004493,Craniofacial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001567,Orphanet,1513,ORPHA:1513,13,HP:0005019,Diaphyseal thickening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001567,Orphanet,1513,ORPHA:1513,13,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0000564,Lacrimal duct atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0003019,Abnormality of the wrist,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0003049,Ulnar deviation of the wrist,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0009465,Ulnar deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0009924,Aplasia/Hypoplasia involving the nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001571,Orphanet,1529,ORPHA:1529,17,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000163,Abnormal oral cavity morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000402,Stenosis of the external auditory canal,Frequent (79-30%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0001052,Nevus flammeus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0009891,Underdeveloped supraorbital ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0001575,Orphanet,1516,ORPHA:1516,29,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000049,Shawl scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000349,Widow's peak,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000474,Thickened nuchal skin fold,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000889,Abnormal clavicle morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0000912,Sprengel anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0001161,Hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0002224,Woolly hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0004122,Midline defect of the nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0006585,Congenital pseudoarthrosis of the clavicle,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0006709,Aplasia/Hypoplasia of the nipples,Occasional (29-5%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0008402,Ridged fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0010059,Broad hallux phalanx,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0010719,Abnormality of hair texture,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0001578,Orphanet,1520,ORPHA:1520,42,HP:0200021,Down-sloping shoulders,Frequent (79-30%),TAS,,,,,y,y +GARD:0001601,Orphanet,1527,ORPHA:1527,3,HP:0000637,Long palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001601,Orphanet,1527,ORPHA:1527,3,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001601,Orphanet,1527,ORPHA:1527,3,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000069,Abnormality of the ureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000244,Brachyturricephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000275,Narrow face,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000446,Narrow nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0001029,Poikiloderma,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0001180,Hand oligodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0001191,Abnormal carpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0001531,Failure to thrive in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0001545,Anteriorly placed anus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0002669,Osteosarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0006487,Bowing of the long bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0006498,Aplasia/Hypoplasia of the patella,Frequent (79-30%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0009601,Aplasia/Hypoplasia of the thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0001602,Orphanet,1225,ORPHA:1225,43,HP:0100589,Urogenital fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0001321,Cerebellar hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0001339,Lissencephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0002139,Arrhinencephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0007330,Frontal encephalocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0001605,Orphanet,1528,ORPHA:1528,15,HP:0100842,Septo-optic dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0000298,Mask-like facies,Occasional (29-5%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0000742,Self-mutilation,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0001582,Redundant skin,Occasional (29-5%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0002251,Aganglionic megacolon,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0002305,Athetosis,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0002595,Ileus,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0004326,Cachexia,Frequent (79-30%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,[PMID:2030174],y,y +GARD:0001608,Orphanet,52503,ORPHA:52503,26,HP:0012113,Abnormal circulating creatine concentration,Very frequent (99-80%),TAS,,,,[PMID:2030174],y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0001522,Death in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0001645,Sudden cardiac death,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0002047,Malignant hyperthermia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001611,Orphanet,1545,ORPHA:1545,23,HP:0100729,Large face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0000533,Chorioretinal atrophy,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0001141,Severely reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0001493,Falciform retinal fold,Frequent (79-30%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0007685,Peripheral retinal avascularization,Very frequent (99-80%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0007773,Vitreoretinopathy,Obligate (100%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0007902,Vitreous hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0007917,Tractional retinal detachment,Frequent (79-30%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0012230,Rhegmatogenous retinal detachment,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0012795,Abnormality of the optic disc,Frequent (79-30%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0030496,Macular exudate,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0030503,Macular telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0030666,Retinal neovascularization,Frequent (79-30%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0031526,Subretinal fluid,Frequent (79-30%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0040049,Macular edema,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0100014,Epiretinal membrane,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001613,Orphanet,891,ORPHA:891,27,HP:0100832,Vitreous floaters,Occasional (29-5%),TAS,,,,"[PMID:29633588, PMID:32039639, PMID:32730767]",y,y +GARD:0001614,Orphanet,1380,ORPHA:1380,6,HP:0000124,Renal tubular dysfunction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001614,Orphanet,1380,ORPHA:1380,6,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001614,Orphanet,1380,ORPHA:1380,6,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001614,Orphanet,1380,ORPHA:1380,6,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001614,Orphanet,1380,ORPHA:1380,6,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001614,Orphanet,1380,ORPHA:1380,6,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001617,Orphanet,2935,ORPHA:2935,11,HP:0000288,Abnormality of the philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0001617,Orphanet,2935,ORPHA:2935,11,HP:0000356,Abnormality of the outer ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0001617,Orphanet,2935,ORPHA:2935,11,HP:0000364,Hearing abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0001617,Orphanet,2935,ORPHA:2935,11,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001617,Orphanet,2935,ORPHA:2935,11,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0001617,Orphanet,2935,ORPHA:2935,11,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001617,Orphanet,2935,ORPHA:2935,11,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0001617,Orphanet,2935,ORPHA:2935,11,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001617,Orphanet,2935,ORPHA:2935,11,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0001617,Orphanet,2935,ORPHA:2935,11,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001617,Orphanet,2935,ORPHA:2935,11,HP:0009601,Aplasia/Hypoplasia of the thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0002098,Respiratory distress,Very rare (<4-1%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0002107,Pneumothorax,Very rare (<4-1%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0002829,Arthralgia,Very rare (<4-1%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0011227,Elevated circulating C-reactive protein concentration,Occasional (29-5%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0011897,Neutrophilia,Frequent (79-30%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0012418,Hypoxemia,Very rare (<4-1%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0025179,Ground-glass opacification,Frequent (79-30%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0025421,Pneumomediastinum,Very rare (<4-1%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0030166,Night sweats,Very rare (<4-1%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0030828,Wheezing,Occasional (29-5%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0030830,Crackles,Frequent (79-30%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0031246,Nonproductive cough,Frequent (79-30%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0031994,Bronchial breath sound,Occasional (29-5%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0032016,Abnormal sputum,Occasional (29-5%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001620,Orphanet,1302,ORPHA:1302,26,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:29939651, PMID:30322441, PMID:31159568]",y,y +GARD:0001626,Orphanet,1552,ORPHA:1552,10,HP:0000037,Male pseudohermaphroditism,Occasional (29-5%),TAS,,,,,y,y +GARD:0001626,Orphanet,1552,ORPHA:1552,10,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0001626,Orphanet,1552,ORPHA:1552,10,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0001626,Orphanet,1552,ORPHA:1552,10,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0001626,Orphanet,1552,ORPHA:1552,10,HP:0002242,Abnormal intestine morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0001626,Orphanet,1552,ORPHA:1552,10,HP:0008517,Aplasia/Hypoplasia of the sacrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001626,Orphanet,1552,ORPHA:1552,10,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001626,Orphanet,1552,ORPHA:1552,10,HP:0030736,Sacrococcygeal teratoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001626,Orphanet,1552,ORPHA:1552,10,HP:0100026,Arteriovenous malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0001626,Orphanet,1552,ORPHA:1552,10,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0000260,Wide anterior fontanel,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0000481,Abnormal cornea morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0000974,Hyperextensible skin,Excluded (0%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001302,Pachygyria,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0002197,Generalized-onset seizure,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0002198,Dilated fourth ventricle,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0002305,Athetosis,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0002334,Abnormal cerebellar vermis morphology,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0002384,Focal impaired awareness seizure,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0002438,Cerebellar malformation,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0002659,Increased susceptibility to fractures,Very rare (<4-1%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0003160,Abnormal isoelectric focusing of serum transferrin,Very frequent (99-80%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0004474,Persistent open anterior fontanelle,Very frequent (99-80%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0005272,Prominent nasolabial fold,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0005328,Progeroid facial appearance,Very frequent (99-80%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0005445,Enlarged posterior fossa,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0005484,Secondary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0006891,Thick cerebral cortex,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0006989,Dysplastic corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0007392,Excessive wrinkled skin,Very frequent (99-80%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0007957,Corneal opacity,Excluded (0%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0011003,High myopia,Very frequent (99-80%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0025082,Abnormal cutaneous elastic fiber morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001638,Orphanet,357058,ORPHA:357058,53,HP:0100874,Thick hair,Frequent (79-30%),TAS,,,,"[PMID:20301755, PMID:28294978]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000015,Bladder diverticulum,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000122,Unilateral renal agenesis,Very rare (<4-1%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000270,Delayed cranial suture closure,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000729,Autistic behavior,Very rare (<4-1%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000938,Osteopenia,Very rare (<4-1%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000973,Cutis laxa,Very frequent (99-80%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001348,Brisk reflexes,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001653,Mitral regurgitation,Frequent (79-30%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001659,Aortic regurgitation,Frequent (79-30%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001762,Talipes equinovarus,Very rare (<4-1%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001763,Pes planus,Very rare (<4-1%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001884,Talipes calcaneovalgus,Very rare (<4-1%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0002013,Vomiting,Very rare (<4-1%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0002097,Emphysema,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0002110,Bronchiectasis,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0002256,Small bowel diverticula,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0002645,Wormian bones,Very rare (<4-1%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0002677,Small foramen magnum,Very rare (<4-1%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0002816,Genu recurvatum,Very rare (<4-1%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0004942,Aortic aneurysm,Frequent (79-30%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0004969,Peripheral pulmonary artery stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0005989,Redundant neck skin,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0006698,Dilatation of the ventricular cavity,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0007495,Prematurely aged appearance,Frequent (79-30%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0007522,Increased number of skin folds,Very frequent (99-80%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0008897,Postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0010648,Dermal translucency,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0010674,Abnormality of the curvature of the vertebral column,Frequent (79-30%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0011950,Bronchiolitis,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0012330,Pyelonephritis,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0025167,Fragmented elastic fibers in the dermis,Very frequent (99-80%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0025356,Psychomotor retardation,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0100512,Low levels of vitamin D,Occasional (29-5%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0100678,Premature skin wrinkling,Very frequent (99-80%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001639,Orphanet,90348,ORPHA:90348,59,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,"[PMID:20301756, PMID:32859844, PMID:33509220]",y,y +GARD:0001646,Orphanet,3327,ORPHA:3327,11,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,[PMID:728567],y,y +GARD:0001646,Orphanet,3327,ORPHA:3327,11,HP:0000123,Nephritis,Frequent (79-30%),TAS,,,,[PMID:728567],y,y +GARD:0001646,Orphanet,3327,ORPHA:3327,11,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:728567],y,y +GARD:0001646,Orphanet,3327,ORPHA:3327,11,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,[PMID:728567],y,y +GARD:0001646,Orphanet,3327,ORPHA:3327,11,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,[PMID:728567],y,y +GARD:0001646,Orphanet,3327,ORPHA:3327,11,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,[PMID:728567],y,y +GARD:0001646,Orphanet,3327,ORPHA:3327,11,HP:0001350,Slurred speech,Frequent (79-30%),TAS,,,,[PMID:728567],y,y +GARD:0001646,Orphanet,3327,ORPHA:3327,11,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,[PMID:728567],y,y +GARD:0001646,Orphanet,3327,ORPHA:3327,11,HP:0002470,Nonprogressive cerebellar ataxia,Frequent (79-30%),TAS,,,,[PMID:728567],y,y +GARD:0001646,Orphanet,3327,ORPHA:3327,11,HP:0009127,Abnormality of the musculature of the limbs,Frequent (79-30%),TAS,,,,[PMID:728567],y,y +GARD:0001646,Orphanet,3327,ORPHA:3327,11,HP:0009798,Euthyroid goiter,Frequent (79-30%),TAS,,,,[PMID:728567],y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0001659,Aortic regurgitation,Frequent (79-30%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0001677,Coronary artery atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0002616,Aortic root aneurysm,Frequent (79-30%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0002647,Aortic dissection,Occasional (29-5%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0004933,Ascending aortic dissection,Frequent (79-30%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0004944,Dilatation of the cerebral artery,Occasional (29-5%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0004950,Peripheral arterial stenosis,Occasional (29-5%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0004959,Descending thoracic aorta aneurysm,Frequent (79-30%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0005162,Abnormal left ventricular function,Frequent (79-30%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0012163,Carotid artery dilatation,Occasional (29-5%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0012499,Descending aortic dissection,Frequent (79-30%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0012763,Paroxysmal dyspnea,Frequent (79-30%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001654,Orphanet,229,ORPHA:229,19,HP:0200146,Mucoid extracellular matrix accumulation,Very frequent (99-80%),TAS,,,,"[PMID:11249915, PMID:15998682, PMID:16444274, PMID:17666408, PMID:22511748, PMID:24284977, PMID:25835446, PMID:26604122]",y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0001181,Adducted thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0001519,Disproportionate tall stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0001659,Aortic regurgitation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0002301,Hemiplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,,y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0003834,Shoulder dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001666,Orphanet,2181,ORPHA:2181,15,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001669,Orphanet,1566,ORPHA:1566,2,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001669,Orphanet,1566,ORPHA:1566,2,HP:0001305,Dandy-Walker malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001671,Orphanet,2091,ORPHA:2091,5,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001671,Orphanet,2091,ORPHA:2091,5,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001671,Orphanet,2091,ORPHA:2091,5,HP:0001199,Triphalangeal thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0001671,Orphanet,2091,ORPHA:2091,5,HP:0001841,Preaxial foot polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001671,Orphanet,2091,ORPHA:2091,5,HP:0005987,Multinodular goiter,Frequent (79-30%),TAS,,,,,y,y +GARD:0001680,Orphanet,1570,ORPHA:1570,8,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001680,Orphanet,1570,ORPHA:1570,8,HP:0002997,Abnormality of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0001680,Orphanet,1570,ORPHA:1570,8,HP:0003063,Abnormality of the humerus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001680,Orphanet,1570,ORPHA:1570,8,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0001680,Orphanet,1570,ORPHA:1570,8,HP:0006501,Aplasia/Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0001680,Orphanet,1570,ORPHA:1570,8,HP:0009601,Aplasia/Hypoplasia of the thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0001680,Orphanet,1570,ORPHA:1570,8,HP:0009800,Maternal diabetes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001680,Orphanet,1570,ORPHA:1570,8,HP:0100745,Abnormality of the humeroulnar joint,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001684,Orphanet,3232,ORPHA:3232,8,HP:0000383,Abnormality of periauricular region,Frequent (79-30%),TAS,,,,,y,y +GARD:0001684,Orphanet,3232,ORPHA:3232,8,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001684,Orphanet,3232,ORPHA:3232,8,HP:0008572,External ear malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001684,Orphanet,3232,ORPHA:3232,8,HP:0008628,Abnormality of the stapes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001684,Orphanet,3232,ORPHA:3232,8,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001684,Orphanet,3232,ORPHA:3232,8,HP:0009739,Hypoplasia of the antihelix,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001684,Orphanet,3232,ORPHA:3232,8,HP:0009906,Aplasia/Hypoplasia of the earlobes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001684,Orphanet,3232,ORPHA:3232,8,HP:0010628,Facial palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000062,Ambiguous genitalia,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000126,Hydronephrosis,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000179,Thick lower lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000187,Broad alveolar ridges,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000189,Narrow palate,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000200,Short lingual frenulum,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000218,High palate,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000269,Prominent occiput,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000294,Low anterior hairline,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000413,Atresia of the external auditory canal,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000414,Bulbous nose,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000474,Thickened nuchal skin fold,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000675,Macrodontia of permanent maxillary central incisor,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000687,Widely spaced teeth,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000696,Delayed eruption of permanent teeth,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000851,Congenital hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0000878,11 pairs of ribs,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0001167,Abnormality of finger,Very frequent (99-80%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0001199,Triphalangeal thumb,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0001305,Dandy-Walker malformation,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0001488,Bilateral ptosis,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0001719,Double outlet right ventricle,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0001780,Abnormality of toe,Very frequent (99-80%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0001817,Absent fingernail,Very frequent (99-80%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0001894,Thrombocytosis,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0002126,Polymicrogyria,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0002139,Arrhinencephaly,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0002384,Focal impaired awareness seizure,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0002937,Hemivertebrae,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0003298,Spina bifida occulta,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0004442,Sagittal craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0004626,Lumbar scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0005306,Capillary hemangioma,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0006934,Congenital nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0008110,Equinovarus deformity,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0008221,Adrenal hyperplasia,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0009237,Short 5th finger,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0010347,Aplasia/Hypoplasia of the phalanges of the 2nd toe,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0010497,Sirenomelia,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0011326,Anterior plagiocephaly,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0011409,Abnormal placental membrane morphology,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0012402,Increased urine alpha-ketoglutarate concentration,Frequent (79-30%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0012725,Cutaneous syndactyly,Very rare (<4-1%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0012810,Wide nasal base,Very frequent (99-80%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0031282,Malalignment of the great toenail,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0031423,Small cerebellar cortex,Occasional (29-5%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001685,Orphanet,79500,ORPHA:79500,89,HP:0100797,Toenail dysplasia,Very frequent (99-80%),TAS,,,,"[PMID:17994565, PMID:18438887, PMID:24291220, PMID:25719194, PMID:5516283]",y,y +GARD:0001686,Orphanet,3241,ORPHA:3241,14,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0001686,Orphanet,3241,ORPHA:3241,14,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001686,Orphanet,3241,ORPHA:3241,14,HP:0000200,Short lingual frenulum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001686,Orphanet,3241,ORPHA:3241,14,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0001686,Orphanet,3241,ORPHA:3241,14,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001686,Orphanet,3241,ORPHA:3241,14,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001686,Orphanet,3241,ORPHA:3241,14,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001686,Orphanet,3241,ORPHA:3241,14,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001686,Orphanet,3241,ORPHA:3241,14,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0001686,Orphanet,3241,ORPHA:3241,14,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0001686,Orphanet,3241,ORPHA:3241,14,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001686,Orphanet,3241,ORPHA:3241,14,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001686,Orphanet,3241,ORPHA:3241,14,HP:0004524,Temporal hypotrichosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001686,Orphanet,3241,ORPHA:3241,14,HP:0010297,Bifid tongue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0000311,Round face,Frequent (79-30%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0000492,Abnormal eyelid morphology,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0000534,Abnormal eyebrow morphology,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0000614,Abnormal nasolacrimal system morphology,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0000679,Taurodontia,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0000819,Diabetes mellitus,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0001176,Large hands,Frequent (79-30%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0003241,External genital hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0003777,Pili torti,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0009890,High anterior hairline,Occasional (29-5%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0010547,Muscle flaccidity,Occasional (29-5%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0011362,Abnormal hair quantity,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0045074,Thin eyebrow,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,[PMID:2063923],y,y +GARD:0001687,Orphanet,3220,ORPHA:3220,33,HP:0100643,Abnormality of nail color,Very frequent (99-80%),TAS,,,,[PMID:2063923],y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0000307,Pointed chin,Frequent (79-30%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0000579,Nasolacrimal duct obstruction,Frequent (79-30%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0006499,Abnormality of femoral epiphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001688,Orphanet,3218,ORPHA:3218,19,HP:0010306,Short thorax,Frequent (79-30%),TAS,,,,,y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0000381,Stapes ankylosis,Very frequent (99-80%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0000408,Progressive sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0001100,Heterochromia iridis,Occasional (29-5%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0004452,Abnormality of the middle ear ossicles,Very frequent (99-80%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0007642,Congenital stationary night blindness,Occasional (29-5%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0008669,Abnormal spermatogenesis,Very frequent (99-80%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0011384,Abnormality of the internal auditory canal,Very frequent (99-80%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0011388,Enlarged cochlear aqueduct,Very frequent (99-80%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0012717,Severe conductive hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0100503,Low levels of vitamin B1,Occasional (29-5%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001691,Orphanet,90646,ORPHA:90646,18,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:1609803, PMID:1683204, PMID:1922747, PMID:19438930, PMID:20412083, PMID:5442491, PMID:6819099, PMID:7839145]",y,y +GARD:0001695,Orphanet,2408,ORPHA:2408,5,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001695,Orphanet,2408,ORPHA:2408,5,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,,y,y +GARD:0001695,Orphanet,2408,ORPHA:2408,5,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001695,Orphanet,2408,ORPHA:2408,5,HP:0002023,Anal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001695,Orphanet,2408,ORPHA:2408,5,HP:0012732,Anorectal anomaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001698,Orphanet,3230,ORPHA:3230,4,HP:0000359,Abnormality of the inner ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0001698,Orphanet,3230,ORPHA:3230,4,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001698,Orphanet,3230,ORPHA:3230,4,HP:0000677,Oligodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001698,Orphanet,3230,ORPHA:3230,4,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,,y,y +GARD:0001705,Orphanet,3239,ORPHA:3239,6,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001705,Orphanet,3239,ORPHA:3239,6,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001705,Orphanet,3239,ORPHA:3239,6,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001705,Orphanet,3239,ORPHA:3239,6,HP:0002571,Achalasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001705,Orphanet,3239,ORPHA:3239,6,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001705,Orphanet,3239,ORPHA:3239,6,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001722,Orphanet,315,ORPHA:315,5,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001722,Orphanet,315,ORPHA:315,5,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001722,Orphanet,315,ORPHA:315,5,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0001722,Orphanet,315,ORPHA:315,5,HP:0008069,Neoplasm of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001722,Orphanet,315,ORPHA:315,5,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001727,Orphanet,3034,ORPHA:3034,7,HP:0000269,Prominent occiput,Frequent (79-30%),TAS,,,,,y,y +GARD:0001727,Orphanet,3034,ORPHA:3034,7,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001727,Orphanet,3034,ORPHA:3034,7,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001727,Orphanet,3034,ORPHA:3034,7,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001727,Orphanet,3034,ORPHA:3034,7,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001727,Orphanet,3034,ORPHA:3034,7,HP:0004331,Decreased skull ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001727,Orphanet,3034,ORPHA:3034,7,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0000364,Hearing abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0002974,Radioulnar synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0003011,Abnormality of the musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001810,Orphanet,3270,ORPHA:3270,20,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001813,Orphanet,1659,ORPHA:1659,6,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001813,Orphanet,1659,ORPHA:1659,6,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001813,Orphanet,1659,ORPHA:1659,6,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001813,Orphanet,1659,ORPHA:1659,6,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,,y,y +GARD:0001813,Orphanet,1659,ORPHA:1659,6,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001813,Orphanet,1659,ORPHA:1659,6,HP:0012639,Abnormal nervous system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0000491,Keratitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0000662,Nyctalopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0000677,Oligodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0000940,Abnormal diaphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0001155,Abnormality of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0001810,Dystrophic toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0002758,Osteoarthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0003019,Abnormality of the wrist,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0008368,Tarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0008391,Dystrophic fingernails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001814,Orphanet,1657,ORPHA:1657,21,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001815,Orphanet,79149,ORPHA:79149,7,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,[PMID:20574610],y,y +GARD:0001815,Orphanet,79149,ORPHA:79149,7,HP:0000991,Xanthomatosis,Very frequent (99-80%),TAS,,,,[PMID:20574610],y,y +GARD:0001815,Orphanet,79149,ORPHA:79149,7,HP:0001131,Corneal dystrophy,Very frequent (99-80%),TAS,,,,[PMID:20574610],y,y +GARD:0001815,Orphanet,79149,ORPHA:79149,7,HP:0001155,Abnormality of the hand,Very frequent (99-80%),TAS,,,,[PMID:20574610],y,y +GARD:0001815,Orphanet,79149,ORPHA:79149,7,HP:0001176,Large hands,Very frequent (99-80%),TAS,,,,[PMID:20574610],y,y +GARD:0001815,Orphanet,79149,ORPHA:79149,7,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,[PMID:20574610],y,y +GARD:0001815,Orphanet,79149,ORPHA:79149,7,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,[PMID:20574610],y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0000492,Abnormal eyelid morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0000691,Microdontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0000968,Ectodermal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0000995,Melanocytic nevus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0002552,Trichodysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0100797,Toenail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001816,Orphanet,1660,ORPHA:1660,16,HP:0100798,Fingernail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0000499,Abnormal eyelash morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0001591,Bell-shaped thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0002673,Coxa valga,Frequent (79-30%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0002812,Coxa vara,Frequent (79-30%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0002816,Genu recurvatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0002999,Patellar dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0003042,Elbow dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0003366,Abnormal femoral neck/head morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001818,Orphanet,1425,ORPHA:1425,29,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0003011,Abnormality of the musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0004298,Abnormality of the abdominal wall,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0010614,Fibroma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0010935,Abnormality of the upper urinary tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0100245,Desmoid tumors,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0001820,Orphanet,873,ORPHA:873,20,HP:0200008,Intestinal polyposis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001823,Orphanet,1799,ORPHA:1799,3,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001823,Orphanet,1799,ORPHA:1799,3,HP:0002474,Expressive language delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001823,Orphanet,1799,ORPHA:1799,3,HP:0002546,Incomprehensible speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0000069,Abnormality of the ureter,Occasional (29-5%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0000384,Preauricular skin tag,Very rare (<4-1%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0000465,Webbed neck,Very rare (<4-1%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0000772,Abnormal rib morphology,Very rare (<4-1%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0001263,Global developmental delay,Very rare (<4-1%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0001374,Congenital hip dislocation,Very rare (<4-1%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0001627,Abnormal heart morphology,Very frequent (99-80%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0001651,Dextrocardia,Obligate (100%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0001696,Situs inversus totalis,Frequent (79-30%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0001743,Abnormality of the spleen,Occasional (29-5%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0001760,Abnormal foot morphology,Very rare (<4-1%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0002245,Meckel diverticulum,Very rare (<4-1%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0002594,Pancreatic hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0003006,Neuroblastoma,Very rare (<4-1%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0003115,Abnormal EKG,Very frequent (99-80%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0004414,Abnormality of the pulmonary artery,Occasional (29-5%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0008771,Aplasia/Hypoplasia of the ear,Very rare (<4-1%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0010872,T-wave inversion,Very frequent (99-80%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0011603,Congenital malformation of the great arteries,Frequent (79-30%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0011615,Abnormal pulmonary situs morphology,Occasional (29-5%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0011620,Abnormality of abdominal situs,Occasional (29-5%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0012210,Abnormal renal morphology,Occasional (29-5%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001827,Orphanet,1666,ORPHA:1666,26,HP:0012243,Abnormal reproductive system morphology,Occasional (29-5%),TAS,,,,"[PMID:13547381, PMID:15219529, PMID:17515336, PMID:17631088, PMID:21861958, PMID:25674744]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0001953,Diabetic ketoacidosis,Very rare (<4-1%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0003074,Hyperglycemia,Very frequent (99-80%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0004904,Maturity-onset diabetes of the young,Frequent (79-30%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0008255,Transient neonatal diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0040064,Abnormality of limbs,Occasional (29-5%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001839,Orphanet,99886,ORPHA:99886,23,HP:0040216,Hypoinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:20301706, PMID:27809389, PMID:29662264]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0000100,Nephrotic syndrome,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0000818,Abnormality of the endocrine system,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0000836,Hyperthyroidism,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0000976,Eczematoid dermatitis,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0001025,Urticaria,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0001287,Meningitis,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0001581,Recurrent skin infections,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0001596,Alopecia,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0001744,Splenomegaly,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0001890,Autoimmune hemolytic anemia,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0001891,Iron deficiency anemia,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0001904,Neutropenia in presence of anti-neutropil antibodies,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0001970,Tubulointerstitial nephritis,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0001973,Autoimmune thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002090,Pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002242,Abnormal intestine morphology,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002583,Colitis,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002595,Ileus,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002716,Lymphadenopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002754,Osteomyelitis,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002917,Hypomagnesemia,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0003111,Abnormal blood ion concentration,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0003212,Increased circulating IgE level,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0003765,Psoriasiform dermatitis,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0004326,Cachexia,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0005208,Secretory diarrhea,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0005263,Gastritis,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0006515,Interstitial pneumonitis,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0007473,Crusting erythematous dermatitis,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0008404,Nail dystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0011123,Inflammatory abnormality of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0012393,Allergy,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0012578,Membranous nephropathy,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0025156,Dependency on intravenous nutrition,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0025379,Anti-thyroid peroxidase antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0030909,Anti-liver cytosolic antigen type 1 antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0031085,Decreased prealbumin level,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0031104,Insulin receptor antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0031123,Recurrent gastroenteritis,Occasional (29-5%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0031401,"Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells",Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0040288,Nasogastric tube feeding,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0100614,Myositis,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0100646,Thyroiditis,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0100651,Type I diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001850,Orphanet,37042,ORPHA:37042,60,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:20301297, PMID:24240290, PMID:30805323]",y,y +GARD:0001851,Orphanet,1671,ORPHA:1671,3,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0001851,Orphanet,1671,ORPHA:1671,3,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001851,Orphanet,1671,ORPHA:1671,3,HP:0100563,Diastomatomyelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0000013,Hypoplasia of the uterus,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0000035,Abnormal testis morphology,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0000130,Abnormality of the uterus,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0000868,Decreased fertility in females,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0002871,Central apnea,Occasional (29-5%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0003002,Breast carcinoma,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0008209,Premature ovarian insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0008715,Testicular dysgenesis,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0012243,Abnormal reproductive system morphology,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0030424,Epididymal cyst,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0100602,Preeclampsia,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001859,Orphanet,1916,ORPHA:1916,18,HP:0100650,Vaginal neoplasm,Very frequent (99-80%),TAS,,,,"[PMID:12918007, PMID:15906411, PMID:17390375, PMID:19689815, PMID:20204493, PMID:21991952, PMID:22682699, PMID:3717241, PMID:3807995]",y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0000142,Abnormal vagina morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0001541,Ascites,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0001643,Patent ductus arteriosus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0001789,Hydrops fetalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0001928,Abnormality of coagulation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0003072,Hypercalcemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0007461,Hemangiomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0008678,Renal hypoplasia/aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001861,Orphanet,2123,ORPHA:2123,19,HP:0100761,Visceral angiomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001862,Orphanet,2337,ORPHA:2337,6,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001862,Orphanet,2337,ORPHA:2337,6,HP:0007447,Diffuse palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001862,Orphanet,2337,ORPHA:2337,6,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0001862,Orphanet,2337,ORPHA:2337,6,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,,y,y +GARD:0001862,Orphanet,2337,ORPHA:2337,6,HP:0200034,Papule,Frequent (79-30%),TAS,,,,,y,y +GARD:0001862,Orphanet,2337,ORPHA:2337,6,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0000039,Epispadias,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0000048,Bifid scrotum,Very frequent (99-80%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0000073,Ureteral duplication,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0000075,Renal duplication,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0000119,Abnormality of the genitourinary system,Very frequent (99-80%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0002836,Bladder exstrophy,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0002937,Hemivertebrae,Very rare (<4-1%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0003172,Abnormality of the pubic bone,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0003316,Butterfly vertebrae,Very rare (<4-1%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0004712,Renal malrotation,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0004792,Rectoperineal fistula,Very rare (<4-1%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0005223,Duplicated colon,Very rare (<4-1%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0008669,Abnormal spermatogenesis,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0008706,Distal urethral duplication,Frequent (79-30%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0009777,Absent thumb,Very rare (<4-1%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0010475,Cloacal exstrophy,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0011140,Gastrointestinal duplication,Occasional (29-5%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0030275,Ectopic scrotum,Frequent (79-30%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0100599,Bifid penis,Very frequent (99-80%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001872,Orphanet,227,ORPHA:227,29,HP:0100600,Penoscrotal transposition,Frequent (79-30%),TAS,,,,"[PMID:10481971, PMID:15764263, PMID:18947662, PMID:20510229, PMID:21959003, PMID:23056729, PMID:23056874, PMID:2316091, PMID:23413289, PMID:24383036, PMID:25004320, PMID:25115674, PMID:26114007, PMID:26610674, PMID:5846196]",y,y +GARD:0001876,Orphanet,1681,ORPHA:1681,10,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001876,Orphanet,1681,ORPHA:1681,10,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001876,Orphanet,1681,ORPHA:1681,10,HP:0000366,Abnormality of the nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001876,Orphanet,1681,ORPHA:1681,10,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001876,Orphanet,1681,ORPHA:1681,10,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001876,Orphanet,1681,ORPHA:1681,10,HP:0001671,Abnormal cardiac septum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001876,Orphanet,1681,ORPHA:1681,10,HP:0002323,Anencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001876,Orphanet,1681,ORPHA:1681,10,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001876,Orphanet,1681,ORPHA:1681,10,HP:0008572,External ear malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001876,Orphanet,1681,ORPHA:1681,10,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0001883,Orphanet,345,ORPHA:345,7,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001883,Orphanet,345,ORPHA:345,7,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001883,Orphanet,345,ORPHA:345,7,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001883,Orphanet,345,ORPHA:345,7,HP:0001581,Recurrent skin infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001883,Orphanet,345,ORPHA:345,7,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001883,Orphanet,345,ORPHA:345,7,HP:0100658,Cellulitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001883,Orphanet,345,ORPHA:345,7,HP:0100809,Scalp tenderness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0001288,Gait disturbance,Very rare (<4-1%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0001638,Cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0002505,Loss of ambulation,Excluded (0%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0003324,Generalized muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0003325,Limb-girdle muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0005162,Abnormal left ventricular function,Very rare (<4-1%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0006957,Loss of ability to walk,Excluded (0%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0008954,Intrinsic hand muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0008969,Leg muscle stiffness,Occasional (29-5%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0008997,Proximal muscle weakness in upper limbs,Very rare (<4-1%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0009005,Weakness of the intrinsic hand muscles,Occasional (29-5%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0009027,Foot dorsiflexor weakness,Very rare (<4-1%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0009072,Decreased Achilles reflex,Very rare (<4-1%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0009073,Progressive proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0009077,Weakness of long finger extensor muscles,Occasional (29-5%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0009830,Peripheral neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0011808,Decreased patellar reflex,Very rare (<4-1%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0012722,Heart block,Very rare (<4-1%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0030198,Fatigable weakness of distal limb muscles,Frequent (79-30%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0031189,Wrist drop,Occasional (29-5%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001886,Orphanet,98912,ORPHA:98912,22,HP:0031374,Ankle weakness,Occasional (29-5%),TAS,,,,"[PMID:15668942, PMID:16684602, PMID:20809097, PMID:25037092]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0000762,Decreased nerve conduction velocity,Very rare (<4-1%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0001283,Bulbar palsy,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0001430,Abnormality of the calf musculature,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0001604,Vocal cord paresis,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0001621,Weak voice,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0002835,Aspiration,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0002936,Distal sensory impairment,Very rare (<4-1%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0003547,Shoulder girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0003738,Exercise-induced myalgia,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0003805,Rimmed vacuoles,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0005934,Imperfect vocal cord adduction,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0007149,Distal upper limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0007354,Amyotrophic lateral sclerosis,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0008049,Abnormality of the extraocular muscles,Occasional (29-5%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0008180,Mildly elevated creatine kinase,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0008756,Bowing of the vocal cords,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0009071,Inflammatory myopathy,Excluded (0%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0031374,Ankle weakness,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001887,Orphanet,600,ORPHA:600,30,HP:0430015,Abnormal morphology of musculature of pharynx,Frequent (79-30%),TAS,,,,"[PMID:24686783, PMID:25154462, PMID:9837826]",y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000130,Abnormality of the uterus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000260,Wide anterior fontanel,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000349,Widow's peak,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000556,Retinal dystrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0000813,Bicornuate uterus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0001539,Omphalocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001899,Orphanet,2143,ORPHA:2143,28,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0001290,Generalized hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0002375,Hypokinesia,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0002448,Progressive encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0003781,Excessive salivation,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0003785,Decreased CSF homovanillic acid concentration,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0004373,Focal dystonia,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0007325,Generalized dystonia,Occasional (29-5%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0010553,Oculogyric crisis,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001902,Orphanet,101150,ORPHA:101150,33,HP:0030166,Night sweats,Frequent (79-30%),TAS,,,,"[PMID:16722965, PMID:20482602, PMID:22030388, PMID:8817341]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0000017,Nocturia,Occasional (29-5%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0000842,Hyperinsulinemia,Very rare (<4-1%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0000855,Insulin resistance,Very rare (<4-1%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0001278,Orthostatic hypotension,Very frequent (99-80%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0001279,Syncope,Frequent (79-30%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0001488,Bilateral ptosis,Very frequent (99-80%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0002045,Hypothermia,Occasional (29-5%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0003115,Abnormal EKG,Occasional (29-5%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0003138,Increased blood urea nitrogen,Frequent (79-30%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0003259,Elevated circulating creatinine concentration,Frequent (79-30%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0009020,Exercise-induced muscle fatigue,Frequent (79-30%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0011979,Elevated urinary dopamine,Very frequent (99-80%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0012384,Rhinitis,Very frequent (99-80%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0012670,Orthostatic syncope,Occasional (29-5%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0012877,Retrograde ejaculation,Frequent (79-30%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001903,Orphanet,230,ORPHA:230,28,HP:0100749,Chest pain,Occasional (29-5%),TAS,,,,"[PMID:20301647, PMID:2300263, PMID:27778639, PMID:3010116]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0000176,Submucous cleft hard palate,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0000829,Hypoparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0000961,Cyanosis,Very frequent (99-80%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0001642,Pulmonic stenosis,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0001649,Tachycardia,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0001660,Truncus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0001719,Double outlet right ventricle,Obligate (100%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0004383,Hypoplastic left heart,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0004935,Pulmonary artery atresia,Occasional (29-5%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0010515,Aplasia/Hypoplasia of the thymus,Occasional (29-5%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0030853,Heterotaxy,Occasional (29-5%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:0045025,Narrow palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001908,Orphanet,3426,ORPHA:3426,28,HP:3000022,Abnormality of cartilage of external ear,Frequent (79-30%),TAS,,,,"[PMID:23427188, PMID:25195019, PMID:3341225]",y,y +GARD:0001910,Orphanet,3411,ORPHA:3411,12,HP:0000104,Renal agenesis,Very frequent (99-80%),TAS,,,,[PMID:934555],y,y +GARD:0001910,Orphanet,3411,ORPHA:3411,12,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,[PMID:934555],y,y +GARD:0001910,Orphanet,3411,ORPHA:3411,12,HP:0001623,Breech presentation,Very frequent (99-80%),TAS,,,,[PMID:934555],y,y +GARD:0001910,Orphanet,3411,ORPHA:3411,12,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,[PMID:934555],y,y +GARD:0001910,Orphanet,3411,ORPHA:3411,12,HP:0003762,Uterus didelphys,Very frequent (99-80%),TAS,,,,[PMID:934555],y,y +GARD:0001910,Orphanet,3411,ORPHA:3411,12,HP:0008670,Partial vaginal septum,Very frequent (99-80%),TAS,,,,[PMID:934555],y,y +GARD:0001910,Orphanet,3411,ORPHA:3411,12,HP:0012532,Chronic pain,Very frequent (99-80%),TAS,,,,[PMID:934555],y,y +GARD:0001910,Orphanet,3411,ORPHA:3411,12,HP:0012888,Abnormality of the uterine cervix,Very frequent (99-80%),TAS,,,,[PMID:934555],y,y +GARD:0001910,Orphanet,3411,ORPHA:3411,12,HP:0030016,Dyspareunia,Very frequent (99-80%),TAS,,,,[PMID:934555],y,y +GARD:0001910,Orphanet,3411,ORPHA:3411,12,HP:0030711,Hydrocolpos,Very frequent (99-80%),TAS,,,,[PMID:934555],y,y +GARD:0001910,Orphanet,3411,ORPHA:3411,12,HP:0100607,Dysmenorrhea,Very frequent (99-80%),TAS,,,,[PMID:934555],y,y +GARD:0001910,Orphanet,3411,ORPHA:3411,12,HP:0100608,Metrorrhagia,Very frequent (99-80%),TAS,,,,[PMID:934555],y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0007401,Macular atrophy,Occasional (29-5%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0007754,Macular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0007793,Granular macular appearance,Occasional (29-5%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0007937,Reticular pigmentary degeneration,Very frequent (99-80%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0007950,Peripapillary chorioretinal atrophy,Occasional (29-5%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0011506,Choroidal neovascularization,Occasional (29-5%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0011509,Macular hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0012231,Exudative retinal detachment,Occasional (29-5%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0012508,Metamorphopsia,Frequent (79-30%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0025574,Macular hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0030499,Macular drusen,Obligate (100%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0030500,Yellow/white lesions of the macula,Obligate (100%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0030528,Paracentral scotoma,Occasional (29-5%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0030629,Perifoveal ring of hyperautofluorescence,Frequent (79-30%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0030631,Hyperautofluorescent macular lesion,Frequent (79-30%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0030632,Hypoautofluorescent macular lesion,Frequent (79-30%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001912,Orphanet,75376,ORPHA:75376,20,HP:0031526,Subretinal fluid,Occasional (29-5%),TAS,,,,"[PMID:28088509, PMID:30578491, PMID:32971684, PMID:33689237]",y,y +GARD:0001917,Orphanet,1656,ORPHA:1656,14,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,,y,y +GARD:0001917,Orphanet,1656,ORPHA:1656,14,HP:0000969,Edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0001917,Orphanet,1656,ORPHA:1656,14,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001917,Orphanet,1656,ORPHA:1656,14,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001917,Orphanet,1656,ORPHA:1656,14,HP:0001935,Microcytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001917,Orphanet,1656,ORPHA:1656,14,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001917,Orphanet,1656,ORPHA:1656,14,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0001917,Orphanet,1656,ORPHA:1656,14,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001917,Orphanet,1656,ORPHA:1656,14,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001917,Orphanet,1656,ORPHA:1656,14,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001917,Orphanet,1656,ORPHA:1656,14,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001917,Orphanet,1656,ORPHA:1656,14,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001917,Orphanet,1656,ORPHA:1656,14,HP:0100725,Lichenification,Occasional (29-5%),TAS,,,,,y,y +GARD:0001917,Orphanet,1656,ORPHA:1656,14,HP:0200037,Skin vesicle,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0000039,Epispadias,Frequent (79-30%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0000041,Chordee,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0001153,Septate vagina,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0001543,Gastroschisis,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0003244,Penile hypospadias,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0003762,Uterus didelphys,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0008635,Hypertrophy of the urinary bladder,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0008665,Clitoral hypertrophy,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0008706,Distal urethral duplication,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0008743,Coronal hypospadias,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0010447,Anal fistula,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0012227,Urethral stricture,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0012583,Unilateral renal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0012732,Anorectal anomaly,Frequent (79-30%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0025407,Rectourethral fistula,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0025489,Bladder duplication,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0100518,Dysuria,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001975,Orphanet,237,ORPHA:237,26,HP:0100519,Anuria,Occasional (29-5%),TAS,,,,"[PMID:27887914, PMID:31571759, PMID:32015628, PMID:32063365]",y,y +GARD:0001993,Orphanet,2274,ORPHA:2274,8,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001993,Orphanet,2274,ORPHA:2274,8,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001993,Orphanet,2274,ORPHA:2274,8,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001993,Orphanet,2274,ORPHA:2274,8,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001993,Orphanet,2274,ORPHA:2274,8,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001993,Orphanet,2274,ORPHA:2274,8,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001993,Orphanet,2274,ORPHA:2274,8,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001993,Orphanet,2274,ORPHA:2274,8,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0002983,Micromelia,Frequent (79-30%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0002986,Radial bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0003031,Ulnar bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0003067,Madelung deformity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0001994,Orphanet,1765,ORPHA:1765,15,HP:0008845,Mesomelic short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001996,Orphanet,241,ORPHA:241,9,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0001996,Orphanet,241,ORPHA:241,9,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0001996,Orphanet,241,ORPHA:241,9,HP:0001034,Hypermelanotic macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001996,Orphanet,241,ORPHA:241,9,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001996,Orphanet,241,ORPHA:241,9,HP:0001480,Freckling,Frequent (79-30%),TAS,,,,,y,y +GARD:0001996,Orphanet,241,ORPHA:241,9,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0001996,Orphanet,241,ORPHA:241,9,HP:0005590,Spotty hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001996,Orphanet,241,ORPHA:241,9,HP:0007565,Multiple cafe-au-lait spots,Frequent (79-30%),TAS,,,,,y,y +GARD:0001996,Orphanet,241,ORPHA:241,9,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001998,Orphanet,1766,ORPHA:1766,14,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0001998,Orphanet,1766,ORPHA:1766,14,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0001998,Orphanet,1766,ORPHA:1766,14,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0001998,Orphanet,1766,ORPHA:1766,14,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0001998,Orphanet,1766,ORPHA:1766,14,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001998,Orphanet,1766,ORPHA:1766,14,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0001998,Orphanet,1766,ORPHA:1766,14,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001998,Orphanet,1766,ORPHA:1766,14,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001998,Orphanet,1766,ORPHA:1766,14,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001998,Orphanet,1766,ORPHA:1766,14,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0001998,Orphanet,1766,ORPHA:1766,14,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0001998,Orphanet,1766,ORPHA:1766,14,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0001998,Orphanet,1766,ORPHA:1766,14,HP:0100021,Cerebral palsy,Frequent (79-30%),TAS,,,,,y,y +GARD:0001998,Orphanet,1766,ORPHA:1766,14,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0001877,Abnormal erythrocyte morphology,Occasional (29-5%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0002249,Melena,Occasional (29-5%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0002904,Hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0003452,Increased serum iron,Frequent (79-30%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0004322,Short stature,Very rare (<4-1%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0004447,Poikilocytosis,Very frequent (99-80%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0005518,Increased mean corpuscular volume,Frequent (79-30%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0011273,Anisocytosis,Very frequent (99-80%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0011891,Post-partum hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0012130,Abnormal erythroid lineage cell morphology,Frequent (79-30%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0025035,Abnormal proerythroblast morphology,Frequent (79-30%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0025196,Increased total iron binding capacity,Frequent (79-30%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0025354,Abnormal cellular phenotype,Frequent (79-30%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002002,Orphanet,98870,ORPHA:98870,20,HP:0030140,Oral cavity bleeding,Occasional (29-5%),TAS,,,,"[PMID:13867810, PMID:14886400, PMID:4432872]",y,y +GARD:0002004,Orphanet,98881,ORPHA:98881,5,HP:0000225,Gingival bleeding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002004,Orphanet,98881,ORPHA:98881,5,HP:0000421,Epistaxis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002004,Orphanet,98881,ORPHA:98881,5,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002004,Orphanet,98881,ORPHA:98881,5,HP:0002239,Gastrointestinal hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002004,Orphanet,98881,ORPHA:98881,5,HP:0004936,Venous thrombosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002009,Orphanet,1779,ORPHA:1779,12,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002009,Orphanet,1779,ORPHA:1779,12,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002009,Orphanet,1779,ORPHA:1779,12,HP:0000243,Trigonocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002009,Orphanet,1779,ORPHA:1779,12,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002009,Orphanet,1779,ORPHA:1779,12,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002009,Orphanet,1779,ORPHA:1779,12,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002009,Orphanet,1779,ORPHA:1779,12,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002009,Orphanet,1779,ORPHA:1779,12,HP:0000474,Thickened nuchal skin fold,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002009,Orphanet,1779,ORPHA:1779,12,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002009,Orphanet,1779,ORPHA:1779,12,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002009,Orphanet,1779,ORPHA:1779,12,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002009,Orphanet,1779,ORPHA:1779,12,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0001291,Abnormal cranial nerve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0003301,Irregular vertebral endplates,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0004493,Craniofacial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0008065,Aplasia/Hypoplasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0008479,Hypoplastic vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002012,Orphanet,1782,ORPHA:1782,22,HP:0100670,Coarse metaphyseal trabecularization,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002015,Orphanet,1795,ORPHA:1795,6,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002015,Orphanet,1795,ORPHA:1795,6,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002015,Orphanet,1795,ORPHA:1795,6,HP:0002758,Osteoarthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002015,Orphanet,1795,ORPHA:1795,6,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002015,Orphanet,1795,ORPHA:1795,6,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002015,Orphanet,1795,ORPHA:1795,6,HP:0010230,Cone-shaped epiphyses of the phalanges of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000158,Macroglossia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000444,Convex nasal ridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000446,Narrow nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0000944,Abnormality of the metaphysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0002645,Wormian bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0004474,Persistent open anterior fontanelle,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0005105,Abnormal nasal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0005665,Massively thickened long bone cortices,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0009804,Tooth agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002016,Orphanet,1798,ORPHA:1798,36,HP:0100777,Exostoses,Occasional (29-5%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0002757,Recurrent fractures,Occasional (29-5%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0002758,Osteoarthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0002823,Abnormality of femur morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0003367,Abnormal femoral neck morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0008368,Tarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0008812,Flattened femoral head,Occasional (29-5%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0010582,Irregular epiphyses,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0100555,Asymmetric growth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002019,Orphanet,1822,ORPHA:1822,16,HP:0100777,Exostoses,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002022,Orphanet,2204,ORPHA:2204,14,HP:0000079,Abnormality of the urinary system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002022,Orphanet,2204,ORPHA:2204,14,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002022,Orphanet,2204,ORPHA:2204,14,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002022,Orphanet,2204,ORPHA:2204,14,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002022,Orphanet,2204,ORPHA:2204,14,HP:0001789,Hydrops fetalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002022,Orphanet,2204,ORPHA:2204,14,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002022,Orphanet,2204,ORPHA:2204,14,HP:0002269,Abnormality of neuronal migration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002022,Orphanet,2204,ORPHA:2204,14,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002022,Orphanet,2204,ORPHA:2204,14,HP:0002813,Abnormality of limb bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002022,Orphanet,2204,ORPHA:2204,14,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002022,Orphanet,2204,ORPHA:2204,14,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002022,Orphanet,2204,ORPHA:2204,14,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002022,Orphanet,2204,ORPHA:2204,14,HP:0009826,Limb undergrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002022,Orphanet,2204,ORPHA:2204,14,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000773,Short ribs,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0000946,Hypoplastic ilia,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0001059,Pterygium,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0001195,Single umbilical artery,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0002879,Anisospondyly,Frequent (79-30%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0002979,Bowing of the legs,Frequent (79-30%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0002983,Micromelia,Frequent (79-30%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0003173,Hypoplastic pubic bone,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0003175,Hypoplastic ischia,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0005268,Miscarriage,Frequent (79-30%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0005622,Broad long bones,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0009826,Limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0032548,Increased placental thickness,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0040064,Abnormality of limbs,Frequent (79-30%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002026,Orphanet,1865,ORPHA:1865,41,HP:0100759,Clubbing of fingers,Occasional (29-5%),TAS,,,,"[PMID:20542149, PMID:32936525]",y,y +GARD:0002027,Orphanet,256,ORPHA:256,5,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002027,Orphanet,256,ORPHA:256,5,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002027,Orphanet,256,ORPHA:256,5,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0002027,Orphanet,256,ORPHA:256,5,HP:0003011,Abnormality of the musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002027,Orphanet,256,ORPHA:256,5,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002028,Orphanet,99657,ORPHA:99657,10,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,"[PMID:11912106, PMID:20482602, PMID:2404852, PMID:25799108, PMID:941766]",y,y +GARD:0002028,Orphanet,99657,ORPHA:99657,10,HP:0000643,Blepharospasm,Frequent (79-30%),TAS,,,,"[PMID:11912106, PMID:20482602, PMID:2404852, PMID:25799108, PMID:941766]",y,y +GARD:0002028,Orphanet,99657,ORPHA:99657,10,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:11912106, PMID:20482602, PMID:2404852, PMID:25799108, PMID:941766]",y,y +GARD:0002028,Orphanet,99657,ORPHA:99657,10,HP:0001304,Torsion dystonia,Very frequent (99-80%),TAS,,,,"[PMID:11912106, PMID:20482602, PMID:2404852, PMID:25799108, PMID:941766]",y,y +GARD:0002028,Orphanet,99657,ORPHA:99657,10,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:11912106, PMID:20482602, PMID:2404852, PMID:25799108, PMID:941766]",y,y +GARD:0002028,Orphanet,99657,ORPHA:99657,10,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:11912106, PMID:20482602, PMID:2404852, PMID:25799108, PMID:941766]",y,y +GARD:0002028,Orphanet,99657,ORPHA:99657,10,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:11912106, PMID:20482602, PMID:2404852, PMID:25799108, PMID:941766]",y,y +GARD:0002028,Orphanet,99657,ORPHA:99657,10,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,"[PMID:11912106, PMID:20482602, PMID:2404852, PMID:25799108, PMID:941766]",y,y +GARD:0002028,Orphanet,99657,ORPHA:99657,10,HP:0007325,Generalized dystonia,Occasional (29-5%),TAS,,,,"[PMID:11912106, PMID:20482602, PMID:2404852, PMID:25799108, PMID:941766]",y,y +GARD:0002028,Orphanet,99657,ORPHA:99657,10,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:11912106, PMID:20482602, PMID:2404852, PMID:25799108, PMID:941766]",y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000039,Epispadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000059,Hypoplastic labia majora,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000060,Clitoral hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000064,Hypoplastic labia minora,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000176,Submucous cleft hard palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000356,Abnormality of the outer ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0003042,Elbow dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0003100,Slender long bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0006443,Patellar aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0006660,Aplastic clavicle,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0008665,Clitoral hypertrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0009892,Anotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0009939,Mandibular aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0011267,"Microtia, third degree",Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0002033,Orphanet,2554,ORPHA:2554,49,HP:0100783,Breast aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0001735,Acute pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0002239,Gastrointestinal hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0002249,Melena,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0005521,Disseminated intravascular coagulation,Occasional (29-5%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0010702,Increased circulating antibody level,Very frequent (99-80%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0012115,Hepatitis,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0020071,Viremia,Very frequent (99-80%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0025143,Chills,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0025439,Pharyngitis,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0040186,Maculopapular exanthema,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0100247,Recurrent singultus,Occasional (29-5%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0100749,Chest pain,Very frequent (99-80%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002035,Orphanet,319218,ORPHA:319218,29,HP:0100806,Sepsis,Frequent (79-30%),TAS,,,,"[PMID:26287303, PMID:28653186, PMID:32487785]",y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0000534,Abnormal eyebrow morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0000787,Nephrolithiasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0007513,Generalized hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002044,Orphanet,1816,ORPHA:1816,16,HP:0009721,Shagreen patch,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0000446,Narrow nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0000482,Microcornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0000647,Sclerocornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0001097,Keratoconjunctivitis sicca,Occasional (29-5%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0001131,Corneal dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0002213,Fine hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002045,Orphanet,1806,ORPHA:1806,25,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0000457,Depressed nasal ridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0002047,Malignant hyperthermia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0006323,Premature loss of primary teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0002048,Orphanet,1810,ORPHA:1810,15,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0000632,Lacrimation abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0000966,Hypohidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0000995,Melanocytic nevus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0001810,Dystrophic toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0008391,Dystrophic fingernails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0012265,Ciliary dyskinesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002049,Orphanet,1882,ORPHA:1882,15,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002055,Orphanet,1818,ORPHA:1818,12,HP:0000366,Abnormality of the nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002055,Orphanet,1818,ORPHA:1818,12,HP:0000499,Abnormal eyelash morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002055,Orphanet,1818,ORPHA:1818,12,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002055,Orphanet,1818,ORPHA:1818,12,HP:0000995,Melanocytic nevus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002055,Orphanet,1818,ORPHA:1818,12,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002055,Orphanet,1818,ORPHA:1818,12,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002055,Orphanet,1818,ORPHA:1818,12,HP:0006709,Aplasia/Hypoplasia of the nipples,Frequent (79-30%),TAS,,,,,y,y +GARD:0002055,Orphanet,1818,ORPHA:1818,12,HP:0007521,Irregular hyperpigmentation of back,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002055,Orphanet,1818,ORPHA:1818,12,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002055,Orphanet,1818,ORPHA:1818,12,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002055,Orphanet,1818,ORPHA:1818,12,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002055,Orphanet,1818,ORPHA:1818,12,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0000653,Sparse eyelashes,Frequent (79-30%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0000972,Palmoplantar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0001792,Small nail,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0001798,Anonychia,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0002209,Sparse scalp hair,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0002213,Fine hair,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0002215,Sparse axillary hair,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0002221,Absent axillary hair,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0002223,Absent eyebrow,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0002225,Sparse pubic hair,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0002555,Absent pubic hair,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0004528,Generalized hypotrichosis,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0004779,Brittle scalp hair,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0005599,Hypopigmentation of hair,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0008383,Slow-growing nails,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0011911,Abnormality of metacarpophalangeal joint,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0031288,Cobblestone-like hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0045059,Hyperkeratotic papule,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002056,Orphanet,189,ORPHA:189,27,HP:0100759,Clubbing of fingers,Occasional (29-5%),TAS,,,,"[PMID:20301379, PMID:32843087]",y,y +GARD:0002057,Orphanet,248,ORPHA:248,10,HP:0000685,Hypoplasia of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002057,Orphanet,248,ORPHA:248,10,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002057,Orphanet,248,ORPHA:248,10,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002057,Orphanet,248,ORPHA:248,10,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002057,Orphanet,248,ORPHA:248,10,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002057,Orphanet,248,ORPHA:248,10,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002057,Orphanet,248,ORPHA:248,10,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002057,Orphanet,248,ORPHA:248,10,HP:0006323,Premature loss of primary teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002057,Orphanet,248,ORPHA:248,10,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002057,Orphanet,248,ORPHA:248,10,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002068,Orphanet,1892,ORPHA:1892,7,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002068,Orphanet,1892,ORPHA:1892,7,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002068,Orphanet,1892,ORPHA:1892,7,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002068,Orphanet,1892,ORPHA:1892,7,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002068,Orphanet,1892,ORPHA:1892,7,HP:0009773,Symphalangism affecting the phalanges of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0002068,Orphanet,1892,ORPHA:1892,7,HP:0100257,Ectrodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002068,Orphanet,1892,ORPHA:1892,7,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0000492,Abnormal eyelid morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0000698,Conical tooth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0002744,Bilateral cleft lip and palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0007651,Ectropion of lower eyelids,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0009743,Distichiasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0011362,Abnormal hair quantity,Occasional (29-5%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0012905,Euryblepharon,Frequent (79-30%),TAS,,,,,y,y +GARD:0002071,Orphanet,1997,ORPHA:1997,15,HP:0200040,Epidermoid cyst,Occasional (29-5%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0000453,Choanal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0001007,Hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0001088,Brushfield spots,Occasional (29-5%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0001238,Slender finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0005616,Accelerated skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0008056,Aplasia/Hypoplasia affecting the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0009465,Ulnar deviation of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0002074,Orphanet,1895,ORPHA:1895,28,HP:0100807,Long fingers,Frequent (79-30%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000068,Urethral atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000217,Xerostomia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000359,Abnormality of the inner ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000370,Abnormality of the middle ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000491,Keratitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000498,Blepharitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000621,Entropion,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000632,Lacrimation abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000679,Taurodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000691,Microdontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000778,Hypoplasia of the thymus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000824,Decreased response to growth hormone stimulation test,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000830,Anterior hypopituitarism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0001803,Nail pits,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0001839,Split foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0002208,Coarse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0002213,Fine hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0002217,Slow-growing hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0003764,Nevus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0006709,Aplasia/Hypoplasia of the nipples,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0007513,Generalized hypopigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0008065,Aplasia/Hypoplasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0008572,External ear malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0009601,Aplasia/Hypoplasia of the thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0009623,Proximal placement of thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0010311,Aplasia/Hypoplasia of the breasts,Occasional (29-5%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0100257,Ectrodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0100533,Inflammatory abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0002076,Orphanet,1896,ORPHA:1896,53,HP:0200020,Corneal erosion,Frequent (79-30%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0000488,Retinopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0001592,Selective tooth agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0002223,Absent eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0007754,Macular dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002078,Orphanet,1897,ORPHA:1897,16,HP:0100257,Ectrodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000140,Abnormality of the menstrual cycle,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000144,Decreased fertility,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000168,Abnormality of the gingiva,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000174,Abnormal palate morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000230,Gingivitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000563,Keratoconus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000716,Depression,Frequent (79-30%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000977,Soft skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0000987,Atypical scarring of skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0001063,Acrocyanosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0001097,Keratoconjunctivitis sicca,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002321,Vertigo,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002579,Gastrointestinal dysmotility,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002645,Wormian bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002827,Hip dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0003019,Abnormality of the wrist,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0004970,Ascending tubular aorta aneurysm,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0005293,Venous insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0005294,Arterial dissection,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0012732,Anorectal anomaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0100550,Tendon rupture,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0100645,Cystocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0002081,Orphanet,285,ORPHA:285,56,HP:0100823,Genital hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000015,Bladder diverticulum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000139,Uterine prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000168,Abnormality of the gingiva,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000190,Abnormal oral frenulum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000230,Gingivitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000446,Narrow nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000499,Abnormal eyelash morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000563,Keratoconus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000615,Abnormal pupil morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000704,Periodontitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000912,Sprengel anomaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000951,Abnormality of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0001073,Cigarette-paper scars,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0001582,Redundant skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0001634,Mitral valve prolapse,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0001654,Abnormal heart valve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002107,Pneumothorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002242,Abnormal intestine morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002617,Vascular dilatation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002619,Varicose veins,Frequent (79-30%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002642,Arteriovenous fistulas of celiac and mesenteric vessels,Frequent (79-30%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002647,Aortic dissection,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0004937,Pulmonary artery aneurysm,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0004942,Aortic aneurysm,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0004947,Arteriovenous fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0004970,Ascending tubular aorta aneurysm,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0005244,Gastrointestinal infarctions,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0005294,Arterial dissection,Frequent (79-30%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0006323,Premature loss of primary teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0007392,Excessive wrinkled skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0007900,Hypoplastic lacrimal duct,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0009906,Aplasia/Hypoplasia of the earlobes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0010648,Dermal translucency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0010719,Abnormality of hair texture,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0011029,Internal hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0100545,Arterial stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0100645,Cystocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0100718,Uterine rupture,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0100784,Peripheral arteriovenous fistula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0100817,Renovascular hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0002082,Orphanet,286,ORPHA:286,95,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000015,Bladder diverticulum,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000276,Long face,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000347,Micrognathia,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000405,Conductive hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000422,Abnormal nasal bridge morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000601,Hypotelorism,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000768,Pectus carinatum,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000939,Osteoporosis,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000963,Thin skin,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000974,Hyperextensible skin,Frequent (79-30%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0000987,Atypical scarring of skin,Frequent (79-30%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001027,"Soft, doughy skin",Frequent (79-30%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001030,Fragile skin,Frequent (79-30%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001058,Poor wound healing,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001342,Cerebral hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001374,Congenital hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001519,Disproportionate tall stature,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001647,Bicuspid aortic valve,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001651,Dextrocardia,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0002650,Scoliosis,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0003198,Myopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0003467,Atlantoaxial instability,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0003834,Shoulder dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0003994,Dislocated wrist,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0004322,Short stature,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0004942,Aortic aneurysm,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0004976,Knee dislocation,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0007023,Antenatal intracerebral hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0007502,Follicular hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0008453,Congenital kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0010727,Spontaneous rupture of the globe,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0025019,Arterial rupture,Occasional (29-5%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002083,Orphanet,536545,ORPHA:536545,65,HP:0100309,Subdural hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:20301635, PMID:28306225, PMID:31132235]",y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0001001,Abnormality of subcutaneous fat tissue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0001385,Hip dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0002300,Mutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0002381,Aphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0002673,Coxa valga,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0002812,Coxa vara,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0002827,Hip dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0010529,Echolalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0010547,Muscle flaccidity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0100541,Femoral hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002084,Orphanet,1899,ORPHA:1899,27,HP:0100699,Scarring,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0000015,Bladder diverticulum,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0000139,Uterine prolapse,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0000481,Abnormal cornea morphology,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0000993,Molluscoid pseudotumors,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001027,"Soft, doughy skin",Very frequent (99-80%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001030,Fragile skin,Very frequent (99-80%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001058,Poor wound healing,Frequent (79-30%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001063,Acrocyanosis,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001065,Striae distensae,Very frequent (99-80%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001073,Cigarette-paper scars,Very frequent (99-80%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001075,Atrophic scars,Very frequent (99-80%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001278,Orthostatic hypotension,Very rare (<4-1%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001386,Joint swelling,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001634,Mitral valve prolapse,Very rare (<4-1%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001653,Mitral regurgitation,Very rare (<4-1%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001704,Tricuspid valve prolapse,Very rare (<4-1%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0001788,Premature rupture of membranes,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0002035,Rectal prolapse,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0002036,Hiatus hernia,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0002315,Headache,Very rare (<4-1%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0002616,Aortic root aneurysm,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0002761,Generalized joint laxity,Very frequent (99-80%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0003010,Prolonged bleeding time,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0003083,Dislocated radial head,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0003771,Pulp calcification,Frequent (79-30%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0003834,Shoulder dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0004872,Incisional hernia,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0004944,Dilatation of the cerebral artery,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0004947,Arteriovenous fistula,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0005294,Arterial dissection,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0006243,Phalangeal dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0007495,Prematurely aged appearance,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0009763,Limb pain,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0010749,Blepharochalasis,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0010750,Dermatochalasis,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0010754,Abnormality of the temporomandibular joint,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0012450,Chronic constipation,Frequent (79-30%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0025014,Subcutaneous spheroids,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0025019,Arterial rupture,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0025509,Piezogenic pedal papules,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0030009,Cervical insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0031364,Ecchymosis,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002088,Orphanet,287,ORPHA:287,66,HP:0031653,Abnormal heart valve physiology,Occasional (29-5%),TAS,,,,"[PMID:20301422, PMID:28192633, PMID:29121166]",y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0001001,Abnormality of subcutaneous fat tissue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0001367,Abnormal joint morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0001385,Hip dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0002036,Hiatus hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0002300,Mutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0002381,Aphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0002673,Coxa valga,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0002748,Rickets,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0002749,Osteomalacia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0002812,Coxa vara,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0002827,Hip dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0003010,Prolonged bleeding time,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0007392,Excessive wrinkled skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0010529,Echolalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0100541,Femoral hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0100633,Esophagitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0100699,Scarring,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002089,Orphanet,1901,ORPHA:1901,36,HP:0100790,Hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0000153,Abnormality of the mouth,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0000234,Abnormality of the head,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0000263,Oxycephaly,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0000476,Cystic hygroma,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0001433,Hepatosplenomegaly,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0001538,Protuberant abdomen,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0002816,Genu recurvatum,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0003026,Short long bone,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0005257,Thoracic hypoplasia,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0005458,Premature closure of fontanelles,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0009826,Limb undergrowth,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002096,Orphanet,221054,ORPHA:221054,19,HP:0012210,Abnormal renal morphology,Very frequent (99-80%),TAS,,,,[PMID:16969863],y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0000104,Renal agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0000383,Abnormality of periauricular region,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0001660,Truncus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0001679,Abnormal aortic morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0002101,Abnormal lung lobation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0004467,Preauricular pit,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0002098,Orphanet,2516,ORPHA:2516,23,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0000912,Sprengel anomaly,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0001605,Vocal cord paralysis,Very rare (<4-1%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0001645,Sudden cardiac death,Very rare (<4-1%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0001678,Atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0001771,Achilles tendon contracture,Occasional (29-5%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0002486,Myotonia,Very frequent (99-80%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0002747,Respiratory insufficiency due to muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0003141,Increased LDL cholesterol concentration,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0003306,Spinal rigidity,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0003418,Back pain,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0003805,Rimmed vacuoles,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0004631,Decreased cervical spine flexion due to contractures of posterior cervical muscles,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0005115,Supraventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0005155,Ventricular escape rhythm,Very rare (<4-1%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0006785,Limb-girdle muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0008948,Proximal upper limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0008956,Proximal lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0008994,Proximal muscle weakness in lower limbs,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0008997,Proximal muscle weakness in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0009125,Lipodystrophy,Occasional (29-5%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0011807,Type 1 muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002102,Orphanet,98863,ORPHA:98863,44,HP:0030117,Absent muscle fiber emerin,Frequent (79-30%),TAS,,,,"[PMID:15148145, PMID:17620497, PMID:17761684, PMID:19716112, PMID:20186852, PMID:21391237, PMID:4697975]",y,y +GARD:0002104,Orphanet,1928,ORPHA:1928,3,HP:0002097,Emphysema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002104,Orphanet,1928,ORPHA:1928,3,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002104,Orphanet,1928,ORPHA:1928,3,HP:0010978,Abnormality of immune system physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0000488,Retinopathy,Very frequent (99-80%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0000492,Abnormal eyelid morphology,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0000499,Abnormal eyelash morphology,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0000614,Abnormal nasolacrimal system morphology,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0000929,Abnormal skull morphology,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0000943,Dysostosis multiplex,Occasional (29-5%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0000991,Xanthomatosis,Very frequent (99-80%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001012,Multiple lipomas,Very frequent (99-80%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001052,Nevus flammeus,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001331,Absent septum pellucidum,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0001704,Tricuspid valve prolapse,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002092,Pulmonary arterial hypertension,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002300,Mutism,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002357,Dysphasia,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002381,Aphasia,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002445,Tetraplegia,Occasional (29-5%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002763,Abnormal cartilage morphology,Occasional (29-5%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0002797,Osteolysis,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0003470,Paralysis,Occasional (29-5%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0004493,Craniofacial hyperostosis,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0005306,Capillary hemangioma,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0009125,Lipodystrophy,Very frequent (99-80%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0010529,Echolalia,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0010622,Neoplasm of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0011611,Interrupted aortic arch,Occasional (29-5%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0012062,Bone cyst,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0012157,Subcortical cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0012759,Neurodevelopmental abnormality,Very frequent (99-80%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0040188,Osteochondrosis,Occasional (29-5%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002108,Orphanet,2396,ORPHA:2396,56,HP:0100761,Visceral angiomatosis,Frequent (79-30%),TAS,,,,"[PMID:24881613, PMID:26942290]",y,y +GARD:0002113,Orphanet,1261,ORPHA:1261,11,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002113,Orphanet,1261,ORPHA:1261,11,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002113,Orphanet,1261,ORPHA:1261,11,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002113,Orphanet,1261,ORPHA:1261,11,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0002113,Orphanet,1261,ORPHA:1261,11,HP:0000824,Decreased response to growth hormone stimulation test,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002113,Orphanet,1261,ORPHA:1261,11,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0002113,Orphanet,1261,ORPHA:1261,11,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002113,Orphanet,1261,ORPHA:1261,11,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002113,Orphanet,1261,ORPHA:1261,11,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002113,Orphanet,1261,ORPHA:1261,11,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002113,Orphanet,1261,ORPHA:1261,11,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002123,Orphanet,1937,ORPHA:1937,9,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0002123,Orphanet,1937,ORPHA:1937,9,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002123,Orphanet,1937,ORPHA:1937,9,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002123,Orphanet,1937,ORPHA:1937,9,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002123,Orphanet,1937,ORPHA:1937,9,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0002123,Orphanet,1937,ORPHA:1937,9,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002123,Orphanet,1937,ORPHA:1937,9,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002123,Orphanet,1937,ORPHA:1937,9,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002123,Orphanet,1937,ORPHA:1937,9,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001287,Meningitis,Frequent (79-30%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001396,Cholestasis,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001791,Fetal ascites,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001945,Fever,Frequent (79-30%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001974,Leukocytosis,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0001987,Hyperammonemia,Very rare (<4-1%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0002045,Hypothermia,Very rare (<4-1%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0002086,Abnormality of the respiratory system,Frequent (79-30%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0004311,Abnormal macrophage morphology,Very rare (<4-1%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0005521,Disseminated intravascular coagulation,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0011121,Abnormality of skin morphology,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0012819,Myocarditis,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0025031,Abnormality of the digestive system,Frequent (79-30%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0025116,Fetal distress,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0100806,Sepsis,Frequent (79-30%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002130,Orphanet,292,ORPHA:292,39,HP:0200149,CSF lymphocytic pleiocytosis,Occasional (29-5%),TAS,,,,"[PMID:25126719, PMID:28373042]",y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0000597,Ophthalmoparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0000602,Ophthalmoplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0001804,Hypoplastic fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0001812,Hyperconvex fingernails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0002300,Mutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0002381,Aphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0003473,Fatigable weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0004334,Dermal atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0008065,Aplasia/Hypoplasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0010529,Echolalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0010547,Muscle flaccidity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0012246,Oculomotor nerve palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0200034,Papule,Frequent (79-30%),TAS,,,,,y,y +GARD:0002137,Orphanet,257,ORPHA:257,20,HP:0200037,Skin vesicle,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0000987,Atypical scarring of skin,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0001030,Fragile skin,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0001056,Milia,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0001075,Atrophic scars,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0001802,Absent toenail,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0001810,Dystrophic toenail,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0001817,Absent fingernail,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0008390,Recurrent loss of toenails and fingernails,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0008391,Dystrophic fingernails,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0031045,Acral blistering,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0031446,Erosion of oral mucosa,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0200041,Skin erosion,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002139,Orphanet,231568,ORPHA:231568,15,HP:0200097,Oral mucosal blisters,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:29963685, PMID:31065125]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001030,Fragile skin,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001056,Milia,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001057,Aplasia cutis congenita,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001075,Atrophic scars,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001600,Abnormality of the larynx,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001609,Hoarse voice,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001805,Onychogryposis,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0002780,Bronchomalacia,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0005483,Abnormal epiglottis morphology,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0006739,Squamous cell carcinoma of the skin,Very rare (<4-1%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0006934,Congenital nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0007483,Depigmentation/hyperpigmentation of skin,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0007589,Aplasia cutis congenita on trunk or limbs,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0007599,Generalized reticulate brown pigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0008944,Distal lower limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0010298,Smooth tongue,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0011354,Generalized abnormality of skin,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0011471,Gastrostomy tube feeding in infancy,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0100699,Scarring,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002141,Orphanet,79396,ORPHA:79396,44,HP:0200097,Oral mucosal blisters,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:30515866, PMID:31772641]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0000079,Abnormality of the urinary system,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0000478,Abnormality of the eye,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0000982,Palmoplantar keratoderma,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0001030,Fragile skin,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0001056,Milia,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0001075,Atrophic scars,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0001510,Growth delay,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0001798,Anonychia,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0001903,Anemia,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0001965,Abnormal scalp morphology,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0002671,Basal cell carcinoma,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0002860,Squamous cell carcinoma,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0004057,Mitten deformity,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0004386,Gastrointestinal inflammation,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0010562,Keloids,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0011355,Localized skin lesion,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0012056,Cutaneous melanoma,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0012252,Abnormal respiratory system morphology,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0020117,Hypoplastic dermoepidermal hemidesmosomes,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0031464,Genital blistering,Excluded (0%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002143,Orphanet,79405,ORPHA:79405,25,HP:0200097,Oral mucosal blisters,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:24690439]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0001056,Milia,Very rare (<4-1%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0001075,Atrophic scars,Very rare (<4-1%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0002046,Heat intolerance,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0003341,Lamina lucida cleavage,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0003489,Acute episodes of neuropathic symptoms,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0007446,Palmoplantar blistering,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0007497,Focal friction-related palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0007556,Plantar hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0007585,Skin fragility with non-scarring blistering,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0008404,Nail dystrophy,Very rare (<4-1%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0009123,Mixed hypo- and hyperpigmentation of the skin,Excluded (0%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0010765,Palmar hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0012513,Upper limb pain,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0025238,Foot pain,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0030350,Erythematous papule,Very rare (<4-1%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0031446,Erosion of oral mucosa,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0200035,Skin plaque,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0200041,Skin erosion,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002146,Orphanet,79400,ORPHA:79400,23,HP:0200097,Oral mucosal blisters,Very rare (<4-1%),TAS,,,,"[PMID:20301543, PMID:28561874, PMID:28659151, PMID:31039243]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0000989,Pruritus,Very rare (<4-1%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0001034,Hypermelanotic macule,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0001056,Milia,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0003341,Lamina lucida cleavage,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0005585,Spotty hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0005590,Spotty hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0007556,Plantar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0007585,Skin fragility with non-scarring blistering,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0008404,Nail dystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0009123,Mixed hypo- and hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0009719,Hypomelanotic macule,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0010765,Palmar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0200034,Papule,Very rare (<4-1%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002147,Orphanet,79399,ORPHA:79399,17,HP:0200097,Oral mucosal blisters,Occasional (29-5%),TAS,,,,"[PMID:20301543, PMID:27081501, PMID:28558912, PMID:30078200]",y,y +GARD:0002148,Orphanet,79401,ORPHA:79401,12,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:11851880, PMID:22854623, PMID:25530118]",y,y +GARD:0002148,Orphanet,79401,ORPHA:79401,12,HP:0000478,Abnormality of the eye,Excluded (0%),TAS,,,,"[PMID:11851880, PMID:22854623, PMID:25530118]",y,y +GARD:0002148,Orphanet,79401,ORPHA:79401,12,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,"[PMID:11851880, PMID:22854623, PMID:25530118]",y,y +GARD:0002148,Orphanet,79401,ORPHA:79401,12,HP:0001030,Fragile skin,Frequent (79-30%),TAS,,,,"[PMID:11851880, PMID:22854623, PMID:25530118]",y,y +GARD:0002148,Orphanet,79401,ORPHA:79401,12,HP:0001034,Hypermelanotic macule,Frequent (79-30%),TAS,,,,"[PMID:11851880, PMID:22854623, PMID:25530118]",y,y +GARD:0002148,Orphanet,79401,ORPHA:79401,12,HP:0001627,Abnormal heart morphology,Excluded (0%),TAS,,,,"[PMID:11851880, PMID:22854623, PMID:25530118]",y,y +GARD:0002148,Orphanet,79401,ORPHA:79401,12,HP:0002012,Abnormality of the abdominal organs,Excluded (0%),TAS,,,,"[PMID:11851880, PMID:22854623, PMID:25530118]",y,y +GARD:0002148,Orphanet,79401,ORPHA:79401,12,HP:0007446,Palmoplantar blistering,Frequent (79-30%),TAS,,,,"[PMID:11851880, PMID:22854623, PMID:25530118]",y,y +GARD:0002148,Orphanet,79401,ORPHA:79401,12,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:11851880, PMID:22854623, PMID:25530118]",y,y +GARD:0002148,Orphanet,79401,ORPHA:79401,12,HP:0020073,Hypopigmented macule,Frequent (79-30%),TAS,,,,"[PMID:11851880, PMID:22854623, PMID:25530118]",y,y +GARD:0002148,Orphanet,79401,ORPHA:79401,12,HP:0031045,Acral blistering,Frequent (79-30%),TAS,,,,"[PMID:11851880, PMID:22854623, PMID:25530118]",y,y +GARD:0002148,Orphanet,79401,ORPHA:79401,12,HP:0200041,Skin erosion,Frequent (79-30%),TAS,,,,"[PMID:11851880, PMID:22854623, PMID:25530118]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0000014,Abnormality of the bladder,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0000016,Urinary retention,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0000070,Ureterocele,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0000072,Hydroureter,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0000081,Duplicated collecting system,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0000481,Abnormal cornea morphology,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0000999,Pyoderma,Very rare (<4-1%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001030,Fragile skin,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001057,Aplasia cutis congenita,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001211,Abnormal fingertip morphology,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001581,Recurrent skin infections,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001602,Laryngeal stenosis,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001615,Hoarse cry,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001662,Bradycardia,Very rare (<4-1%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001798,Anonychia,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001818,Paronychia,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0001955,Unexplained fevers,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0002043,Esophageal stricture,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0002087,Abnormality of the upper respiratory tract,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0002107,Pneumothorax,Very rare (<4-1%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0002860,Squamous cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0003111,Abnormal blood ion concentration,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0004057,Mitten deformity,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0004386,Gastrointestinal inflammation,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0004395,Malnutrition,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0006000,Ureteral obstruction,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0006297,Enamel hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0008404,Nail dystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0008682,Renal tubular epithelial necrosis,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0010307,Stridor,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0010476,Aplasia/Hypoplasia of the bladder,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0011830,Abnormal oral mucosa morphology,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0012227,Urethral stricture,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0020117,Hypoplastic dermoepidermal hemidesmosomes,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0031446,Erosion of oral mucosa,Frequent (79-30%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0100518,Dysuria,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0200035,Skin plaque,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002153,Orphanet,79404,ORPHA:79404,61,HP:0200041,Skin erosion,Very frequent (99-80%),TAS,,,,"[PMID:20301304, PMID:22512697, PMID:27375110]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0000079,Abnormality of the urinary system,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0000982,Palmoplantar keratoderma,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0000987,Atypical scarring of skin,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0001030,Fragile skin,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0001056,Milia,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0001075,Atrophic scars,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0001510,Growth delay,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0001792,Small nail,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0001798,Anonychia,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0001903,Anemia,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0001965,Abnormal scalp morphology,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0002671,Basal cell carcinoma,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0002860,Squamous cell carcinoma,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0004057,Mitten deformity,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0004386,Gastrointestinal inflammation,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0006297,Enamel hypoplasia,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0007446,Palmoplantar blistering,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0008388,Abnormal toenail morphology,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0010562,Keloids,Frequent (79-30%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0011355,Localized skin lesion,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0012056,Cutaneous melanoma,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0012221,Pretibial blistering,Very frequent (99-80%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0012252,Abnormal respiratory system morphology,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0030350,Erythematous papule,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0031464,Genital blistering,Excluded (0%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0045059,Hyperkeratotic papule,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0200037,Skin vesicle,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0200041,Skin erosion,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002155,Orphanet,79410,ORPHA:79410,35,HP:0200097,Oral mucosal blisters,Occasional (29-5%),TAS,,,,"[PMID:20301481, PMID:24690439, PMID:29267469, PMID:8245264]",y,y +GARD:0002162,Orphanet,1941,ORPHA:1941,8,HP:0000153,Abnormality of the mouth,Frequent (79-30%),TAS,,,,"[PMID:16970883, PMID:7964917]",y,y +GARD:0002162,Orphanet,1941,ORPHA:1941,8,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:16970883, PMID:7964917]",y,y +GARD:0002162,Orphanet,1941,ORPHA:1941,8,HP:0001336,Myoclonus,Very rare (<4-1%),TAS,,,,"[PMID:16970883, PMID:7964917]",y,y +GARD:0002162,Orphanet,1941,ORPHA:1941,8,HP:0002069,Bilateral tonic-clonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:16970883, PMID:7964917]",y,y +GARD:0002162,Orphanet,1941,ORPHA:1941,8,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:16970883, PMID:7964917]",y,y +GARD:0002162,Orphanet,1941,ORPHA:1941,8,HP:0002197,Generalized-onset seizure,Very frequent (99-80%),TAS,,,,"[PMID:16970883, PMID:7964917]",y,y +GARD:0002162,Orphanet,1941,ORPHA:1941,8,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:16970883, PMID:7964917]",y,y +GARD:0002162,Orphanet,1941,ORPHA:1941,8,HP:0002392,EEG with polyspike wave complexes,Very frequent (99-80%),TAS,,,,"[PMID:16970883, PMID:7964917]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0001327,Photosensitive myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0002059,Cerebral atrophy,Occasional (29-5%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0002073,Progressive cerebellar ataxia,Occasional (29-5%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0007221,Progressive truncal ataxia,Frequent (79-30%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0007272,Progressive psychomotor deterioration,Frequent (79-30%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0011166,Focal myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0011185,EEG with focal epileptiform discharges,Occasional (29-5%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0011188,Focal EEG discharges with secondary generalization,Frequent (79-30%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0012462,Chin myoclonus,Occasional (29-5%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002167,Orphanet,263516,ORPHA:263516,22,HP:0045084,Limb myoclonus,Occasional (29-5%),TAS,,,,"[PMID:17455289, PMID:22693283, PMID:22748208, PMID:27083890]",y,y +GARD:0002168,Orphanet,1951,ORPHA:1951,10,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0002168,Orphanet,1951,ORPHA:1951,10,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002168,Orphanet,1951,ORPHA:1951,10,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002168,Orphanet,1951,ORPHA:1951,10,HP:0000524,Conjunctival telangiectasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002168,Orphanet,1951,ORPHA:1951,10,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002168,Orphanet,1951,ORPHA:1951,10,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002168,Orphanet,1951,ORPHA:1951,10,HP:0002720,Decreased circulating IgA level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002168,Orphanet,1951,ORPHA:1951,10,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002168,Orphanet,1951,ORPHA:1951,10,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002168,Orphanet,1951,ORPHA:1951,10,HP:0009237,Short 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0000154,Wide mouth,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0000179,Thick lower lip vermilion,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0000219,Thin upper lip vermilion,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0000289,Broad philtrum,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0000343,Long philtrum,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0000431,Wide nasal bridge,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0000463,Anteverted nares,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0000568,Microphthalmia,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0000735,Impaired social interactions,Occasional (29-5%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0000750,Delayed speech and language development,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0001159,Syndactyly,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0001252,Hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0001263,Global developmental delay,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0001326,EEG with irregular generalized spike and wave complexes,Occasional (29-5%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0002121,Generalized non-motor (absence) seizure,Frequent (79-30%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0002292,Frontal balding,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0002317,Unsteady gait,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0002332,Lack of peer relationships,Frequent (79-30%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0002392,EEG with polyspike wave complexes,Frequent (79-30%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0007256,Abnormal pyramidal sign,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0007359,Focal-onset seizure,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0009928,Thick nasal alae,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0010819,Atonic seizure,Frequent (79-30%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0010845,EEG with generalized slow activity,Occasional (29-5%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0011097,Epileptic spasm,Excluded (0%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0011170,Generalized myoclonic-atonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0011171,Simple febrile seizure,Occasional (29-5%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0011182,Interictal epileptiform activity,Occasional (29-5%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0011197,EEG with focal spike waves,Very frequent (99-80%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0011220,Prominent forehead,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0025190,Bilateral tonic-clonic seizure with generalized onset,Frequent (79-30%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0100678,Premature skin wrinkling,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0100851,Abnormal emotion/affect behavior,Occasional (29-5%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0200134,Epileptic encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002169,Orphanet,1942,ORPHA:1942,44,HP:0410263,Brain imaging abnormality,Occasional (29-5%),TAS,,,,"[PMID:29729532, PMID:32469098]",y,y +GARD:0002170,Orphanet,25968,ORPHA:25968,6,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:18669497, PMID:23127259, PMID:6802526]",y,y +GARD:0002170,Orphanet,25968,ORPHA:25968,6,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:18669497, PMID:23127259, PMID:6802526]",y,y +GARD:0002170,Orphanet,25968,ORPHA:25968,6,HP:0002367,Visual hallucinations,Frequent (79-30%),TAS,,,,"[PMID:18669497, PMID:23127259, PMID:6802526]",y,y +GARD:0002170,Orphanet,25968,ORPHA:25968,6,HP:0002384,Focal impaired awareness seizure,Very frequent (99-80%),TAS,,,,"[PMID:18669497, PMID:23127259, PMID:6802526]",y,y +GARD:0002170,Orphanet,25968,ORPHA:25968,6,HP:0012011,EEG with occipital focal spike waves,Very frequent (99-80%),TAS,,,,"[PMID:18669497, PMID:23127259, PMID:6802526]",y,y +GARD:0002170,Orphanet,25968,ORPHA:25968,6,HP:0025518,Visual gaze preference,Frequent (79-30%),TAS,,,,"[PMID:18669497, PMID:23127259, PMID:6802526]",y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0001172,Abnormal thumb morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0002002,Deep philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0003019,Abnormality of the wrist,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0009623,Proximal placement of thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002178,Orphanet,1825,ORPHA:1825,25,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0001156,Brachydactyly,Excluded (0%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0002663,Delayed epiphyseal ossification,Occasional (29-5%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0002812,Coxa vara,Very rare (<4-1%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0002857,Genu valgum,Very rare (<4-1%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0002970,Genu varum,Very rare (<4-1%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0003170,Abnormal acetabulum morphology,Occasional (29-5%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0003365,Arthralgia of the hip,Frequent (79-30%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0003498,Disproportionate short stature,Occasional (29-5%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Very rare (<4-1%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0006094,Finger joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0030839,Knee pain,Frequent (79-30%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0030840,Ankle pain,Occasional (29-5%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0030973,Postexertional malaise,Frequent (79-30%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002180,Orphanet,93308,ORPHA:93308,21,HP:0045086,Knee joint hypermobility,Occasional (29-5%),TAS,,,,"[PMID:20301302, PMID:29530484, PMID:32633442]",y,y +GARD:0002188,Orphanet,222,ORPHA:222,5,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002188,Orphanet,222,ORPHA:222,5,HP:0004552,Scarring alopecia of scalp,Frequent (79-30%),TAS,,,,,y,y +GARD:0002188,Orphanet,222,ORPHA:222,5,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002188,Orphanet,222,ORPHA:222,5,HP:0200039,Pustule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002188,Orphanet,222,ORPHA:222,5,HP:0200041,Skin erosion,Frequent (79-30%),TAS,,,,,y,y +GARD:0002192,Orphanet,1954,ORPHA:1954,9,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002192,Orphanet,1954,ORPHA:1954,9,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002192,Orphanet,1954,ORPHA:1954,9,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002192,Orphanet,1954,ORPHA:1954,9,HP:0001522,Death in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002192,Orphanet,1954,ORPHA:1954,9,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002192,Orphanet,1954,ORPHA:1954,9,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002192,Orphanet,1954,ORPHA:1954,9,HP:0003073,Hypoalbuminemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002192,Orphanet,1954,ORPHA:1954,9,HP:0007381,Congenital exfoliative erythroderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002192,Orphanet,1954,ORPHA:1954,9,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0000967,Petechiae,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0001063,Acrocyanosis,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0001298,Encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0003219,Ethylmalonic aciduria,Very frequent (99-80%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0012747,Abnormal brainstem MRI signal intensity,Occasional (29-5%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0012751,Abnormal basal ganglia MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002198,Orphanet,51188,ORPHA:51188,18,HP:0012841,Retinal vascular tortuosity,Frequent (79-30%),TAS,,,,"[PMID:1683940, PMID:20528888]",y,y +GARD:0002202,Orphanet,1962,ORPHA:1962,5,HP:0002762,Multiple exostoses,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002202,Orphanet,1962,ORPHA:1962,5,HP:0004334,Dermal atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002202,Orphanet,1962,ORPHA:1962,5,HP:0005863,Type E brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002202,Orphanet,1962,ORPHA:1962,5,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002202,Orphanet,1962,ORPHA:1962,5,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000028,Cryptorchidism,Very rare (<4-1%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000039,Epispadias,Frequent (79-30%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000048,Bifid scrotum,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000069,Abnormality of the ureter,Very rare (<4-1%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000075,Renal duplication,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000089,Renal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000110,Renal dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000136,Bifid uterus,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000271,Abnormality of the face,Very rare (<4-1%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000290,Abnormality of the forehead,Very rare (<4-1%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0000315,Abnormality of the orbital region,Very rare (<4-1%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0001367,Abnormal joint morphology,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0002023,Anal atresia,Very rare (<4-1%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0002025,Anal stenosis,Very rare (<4-1%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0002414,Spina bifida,Very rare (<4-1%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0002836,Bladder exstrophy,Frequent (79-30%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0004298,Abnormality of the abdominal wall,Frequent (79-30%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0004321,Bladder fistula,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0010475,Cloacal exstrophy,Very rare (<4-1%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0010866,Abdominal wall defect,Frequent (79-30%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0011842,Abnormal skeletal morphology,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0012443,Abnormality of brain morphology,Very rare (<4-1%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0025489,Bladder duplication,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0030014,Female sexual dysfunction,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0030261,Absent penis,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0040307,Male sexual dysfunction,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0100599,Bifid penis,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0100600,Penoscrotal transposition,Occasional (29-5%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002207,Orphanet,322,ORPHA:322,40,HP:0100645,Cystocele,Frequent (79-30%),TAS,,,,"[PMID:30076940, PMID:30576745, PMID:32564346]",y,y +GARD:0002213,Orphanet,1964,ORPHA:1964,13,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002213,Orphanet,1964,ORPHA:1964,13,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002213,Orphanet,1964,ORPHA:1964,13,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002213,Orphanet,1964,ORPHA:1964,13,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002213,Orphanet,1964,ORPHA:1964,13,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002213,Orphanet,1964,ORPHA:1964,13,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0002213,Orphanet,1964,ORPHA:1964,13,HP:0006682,Premature ventricular contraction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002213,Orphanet,1964,ORPHA:1964,13,HP:0006689,Bacterial endocarditis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002213,Orphanet,1964,ORPHA:1964,13,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002213,Orphanet,1964,ORPHA:1964,13,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002213,Orphanet,1964,ORPHA:1964,13,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0002213,Orphanet,1964,ORPHA:1964,13,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002213,Orphanet,1964,ORPHA:1964,13,HP:0012722,Heart block,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0000820,Abnormality of the thyroid gland,Frequent (79-30%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0000995,Melanocytic nevus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0001555,Asymmetry of the thorax,Frequent (79-30%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0002970,Genu varum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0004122,Midline defect of the nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0007513,Generalized hypopigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0007565,Multiple cafe-au-lait spots,Frequent (79-30%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002221,Orphanet,1969,ORPHA:1969,21,HP:0010290,Short hard palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000046,Small scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0001007,Hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0001099,Fundus atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0001305,Dandy-Walker malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0001821,Broad nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0004374,Hemiplegia/hemiparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0006887,"Intellectual disability, progressive",Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0002222,Orphanet,1970,ORPHA:1970,29,HP:0011039,Abnormal helix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0000171,Microglossia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0000308,Microretrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0001852,Sandal gap,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0002984,Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0003022,Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0003038,Fibular hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0004059,Radial club hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0004383,Hypoplastic left heart,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0005736,Short tibia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0009237,Short 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002229,Orphanet,1972,ORPHA:1972,15,HP:0009778,Short thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002230,Orphanet,1973,ORPHA:1973,14,HP:0000085,Horseshoe kidney,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002230,Orphanet,1973,ORPHA:1973,14,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0002230,Orphanet,1973,ORPHA:1973,14,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002230,Orphanet,1973,ORPHA:1973,14,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002230,Orphanet,1973,ORPHA:1973,14,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002230,Orphanet,1973,ORPHA:1973,14,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002230,Orphanet,1973,ORPHA:1973,14,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002230,Orphanet,1973,ORPHA:1973,14,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002230,Orphanet,1973,ORPHA:1973,14,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002230,Orphanet,1973,ORPHA:1973,14,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002230,Orphanet,1973,ORPHA:1973,14,HP:0001357,Plagiocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002230,Orphanet,1973,ORPHA:1973,14,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0002230,Orphanet,1973,ORPHA:1973,14,HP:0001704,Tricuspid valve prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0002230,Orphanet,1973,ORPHA:1973,14,HP:0001706,Endocardial fibroelastosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0000132,Menorrhagia,Occasional (29-5%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0001934,Persistent bleeding after trauma,Occasional (29-5%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0002105,Hemoptysis,Very rare (<4-1%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0002170,Intracranial hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0002573,Hematochezia,Very rare (<4-1%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0004846,Prolonged bleeding after surgery,Occasional (29-5%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0005261,Joint hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0006298,Prolonged bleeding after dental extraction,Occasional (29-5%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0007420,Spontaneous hematomas,Occasional (29-5%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0011890,Prolonged bleeding following procedure,Occasional (29-5%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0011891,Post-partum hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0030137,Prolonged bleeding following circumcision,Occasional (29-5%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0030140,Oral cavity bleeding,Occasional (29-5%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002237,Orphanet,326,ORPHA:326,19,HP:0100608,Metrorrhagia,Very rare (<4-1%),TAS,,,,"[PMID:26376169, PMID:28270373, PMID:31121608]",y,y +GARD:0002238,Orphanet,327,ORPHA:327,12,HP:0000132,Menorrhagia,Frequent (79-30%),TAS,,,,"[PMID:19141157, PMID:28350321]",y,y +GARD:0002238,Orphanet,327,ORPHA:327,12,HP:0000138,Ovarian cyst,Occasional (29-5%),TAS,,,,"[PMID:19141157, PMID:28350321]",y,y +GARD:0002238,Orphanet,327,ORPHA:327,12,HP:0000225,Gingival bleeding,Frequent (79-30%),TAS,,,,"[PMID:19141157, PMID:28350321]",y,y +GARD:0002238,Orphanet,327,ORPHA:327,12,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,"[PMID:19141157, PMID:28350321]",y,y +GARD:0002238,Orphanet,327,ORPHA:327,12,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:19141157, PMID:28350321]",y,y +GARD:0002238,Orphanet,327,ORPHA:327,12,HP:0002170,Intracranial hemorrhage,Very frequent (99-80%),TAS,,,,"[PMID:19141157, PMID:28350321]",y,y +GARD:0002238,Orphanet,327,ORPHA:327,12,HP:0002239,Gastrointestinal hemorrhage,Very frequent (99-80%),TAS,,,,"[PMID:19141157, PMID:28350321]",y,y +GARD:0002238,Orphanet,327,ORPHA:327,12,HP:0004846,Prolonged bleeding after surgery,Frequent (79-30%),TAS,,,,"[PMID:19141157, PMID:28350321]",y,y +GARD:0002238,Orphanet,327,ORPHA:327,12,HP:0005261,Joint hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:19141157, PMID:28350321]",y,y +GARD:0002238,Orphanet,327,ORPHA:327,12,HP:0008151,Prolonged prothrombin time,Frequent (79-30%),TAS,,,,"[PMID:19141157, PMID:28350321]",y,y +GARD:0002238,Orphanet,327,ORPHA:327,12,HP:0010881,Abnormality of the umbilical cord,Occasional (29-5%),TAS,,,,"[PMID:19141157, PMID:28350321]",y,y +GARD:0002238,Orphanet,327,ORPHA:327,12,HP:0011891,Post-partum hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:19141157, PMID:28350321]",y,y +GARD:0002245,Orphanet,3303,ORPHA:3303,12,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002245,Orphanet,3303,ORPHA:3303,12,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0002245,Orphanet,3303,ORPHA:3303,12,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002245,Orphanet,3303,ORPHA:3303,12,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002245,Orphanet,3303,ORPHA:3303,12,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002245,Orphanet,3303,ORPHA:3303,12,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002245,Orphanet,3303,ORPHA:3303,12,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002245,Orphanet,3303,ORPHA:3303,12,HP:0001636,Tetralogy of Fallot,Frequent (79-30%),TAS,,,,,y,y +GARD:0002245,Orphanet,3303,ORPHA:3303,12,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002245,Orphanet,3303,ORPHA:3303,12,HP:0004467,Preauricular pit,Frequent (79-30%),TAS,,,,,y,y +GARD:0002245,Orphanet,3303,ORPHA:3303,12,HP:0005105,Abnormal nasal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002245,Orphanet,3303,ORPHA:3303,12,HP:0009891,Underdeveloped supraorbital ridges,Frequent (79-30%),TAS,,,,,y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0000525,Abnormality iris morphology,Frequent (79-30%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0000766,Abnormal sternum morphology,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0000965,Cutis marmorata,Very frequent (99-80%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0001640,Cardiomegaly,Frequent (79-30%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0001659,Aortic regurgitation,Frequent (79-30%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0001677,Coronary artery atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0002107,Pneumothorax,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0002138,Subarachnoid hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0002140,Ischemic stroke,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0002616,Aortic root aneurysm,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0002647,Aortic dissection,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0002686,Prenatal maternal abnormality,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0003549,Abnormality of connective tissue,Very frequent (99-80%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0004933,Ascending aortic dissection,Frequent (79-30%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0004944,Dilatation of the cerebral artery,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0004950,Peripheral arterial stenosis,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0004959,Descending thoracic aorta aneurysm,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0005112,Abdominal aortic aneurysm,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0005162,Abnormal left ventricular function,Frequent (79-30%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0011106,Hypovolemia,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0012163,Carotid artery dilatation,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0012499,Descending aortic dissection,Frequent (79-30%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0012763,Paroxysmal dyspnea,Frequent (79-30%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0100775,Dural ectasia,Occasional (29-5%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002249,Orphanet,91387,ORPHA:91387,42,HP:0200146,Mucoid extracellular matrix accumulation,Very frequent (99-80%),TAS,,,,"[PMID:16996941, PMID:17666408, PMID:17994018, PMID:19409525, PMID:20301299, PMID:21055718, PMID:24243736]",y,y +GARD:0002254,Orphanet,922,ORPHA:922,8,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:4002006, PMID:8813877]",y,y +GARD:0002254,Orphanet,922,ORPHA:922,8,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:4002006, PMID:8813877]",y,y +GARD:0002254,Orphanet,922,ORPHA:922,8,HP:0002110,Bronchiectasis,Frequent (79-30%),TAS,,,,"[PMID:4002006, PMID:8813877]",y,y +GARD:0002254,Orphanet,922,ORPHA:922,8,HP:0002257,Chronic rhinitis,Frequent (79-30%),TAS,,,,"[PMID:4002006, PMID:8813877]",y,y +GARD:0002254,Orphanet,922,ORPHA:922,8,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:4002006, PMID:8813877]",y,y +GARD:0002254,Orphanet,922,ORPHA:922,8,HP:0005938,Abnormal respiratory motile cilium morphology,Frequent (79-30%),TAS,,,,"[PMID:4002006, PMID:8813877]",y,y +GARD:0002254,Orphanet,922,ORPHA:922,8,HP:0011109,Chronic sinusitis,Occasional (29-5%),TAS,,,,"[PMID:4002006, PMID:8813877]",y,y +GARD:0002254,Orphanet,922,ORPHA:922,8,HP:0100750,Atelectasis,Occasional (29-5%),TAS,,,,"[PMID:4002006, PMID:8813877]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0000708,Behavioral abnormality,Very rare (<4-1%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0000716,Depression,Very rare (<4-1%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0002069,Bilateral tonic-clonic seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0002076,Migraine,Very rare (<4-1%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0002197,Generalized-onset seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0002349,Focal aware seizure,Occasional (29-5%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0002367,Visual hallucinations,Occasional (29-5%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0002381,Aphasia,Frequent (79-30%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0007334,Bilateral tonic-clonic seizure with focal onset,Very rare (<4-1%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0007359,Focal-onset seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0008765,Auditory hallucinations,Very frequent (99-80%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0011154,Focal autonomic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0011182,Interictal epileptiform activity,Frequent (79-30%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0011185,EEG with focal epileptiform discharges,Very frequent (99-80%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0031951,Nocturnal seizures,Occasional (29-5%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0100710,Impulsivity,Very rare (<4-1%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002257,Orphanet,101046,ORPHA:101046,19,HP:0410263,Brain imaging abnormality,Excluded (0%),TAS,,,,"[PMID:20301709, PMID:27683934, PMID:29179159]",y,y +GARD:0002259,Orphanet,2456,ORPHA:2456,2,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,,y,y +GARD:0002259,Orphanet,2456,ORPHA:2456,2,HP:0002558,Supernumerary nipple,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0000295,Doll-like facies,Very rare (<4-1%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0001402,Hepatocellular carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0001947,Renal tubular acidosis,Very frequent (99-80%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0002148,Hypophosphatemia,Very frequent (99-80%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0002150,Hypercalciuria,Frequent (79-30%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0002155,Hypertriglyceridemia,Occasional (29-5%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0002748,Rickets,Frequent (79-30%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0002909,Generalized aminoaciduria,Occasional (29-5%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0003076,Glycosuria,Frequent (79-30%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0003109,Hyperphosphaturia,Very frequent (99-80%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0003155,Elevated circulating alkaline phosphatase concentration,Occasional (29-5%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0003162,Fasting hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0004919,Galactose intolerance,Very frequent (99-80%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0006568,Increased hepatic glycogen content,Very frequent (99-80%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0011998,Postprandial hyperglycemia,Frequent (79-30%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0020110,Bone fracture,Occasional (29-5%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0031956,Elevated circulating aspartate aminotransferase concentration,Occasional (29-5%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0031964,Elevated circulating alanine aminotransferase concentration,Occasional (29-5%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0040270,Impaired glucose tolerance,Very frequent (99-80%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002268,Orphanet,2088,ORPHA:2088,31,HP:0500030,Abnormal hepatic glycogen storage,Very frequent (99-80%),TAS,,,,"[PMID:29624224, PMID:30950137]",y,y +GARD:0002276,Orphanet,2064,ORPHA:2064,6,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002276,Orphanet,2064,ORPHA:2064,6,HP:0000960,Sacral dimple,Frequent (79-30%),TAS,,,,,y,y +GARD:0002276,Orphanet,2064,ORPHA:2064,6,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0002276,Orphanet,2064,ORPHA:2064,6,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002276,Orphanet,2064,ORPHA:2064,6,HP:0005626,Posterior fusion of lumbosacral vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002276,Orphanet,2064,ORPHA:2064,6,HP:0008368,Tarsal synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0000100,Nephrotic syndrome,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0001327,Photosensitive myoclonic seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0001633,Abnormal mitral valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0001677,Coronary artery atherosclerosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0002344,Progressive neurologic deterioration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0003287,Abnormality of mitochondrial metabolism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0007201,Cerebral artery atherosclerosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0100545,Arterial stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002279,Orphanet,1192,ORPHA:1192,23,HP:0100651,Type I diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002285,Orphanet,1986,ORPHA:1986,5,HP:0004058,Hand monodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002285,Orphanet,1986,ORPHA:1986,5,HP:0005772,Aplasia/Hypoplasia of the tibia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002285,Orphanet,1986,ORPHA:1986,5,HP:0006495,Aplasia/Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0002285,Orphanet,1986,ORPHA:1986,5,HP:0010443,Bifid femur,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002285,Orphanet,1986,ORPHA:1986,5,HP:0100257,Ectrodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002286,Orphanet,2019,ORPHA:2019,10,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002286,Orphanet,2019,ORPHA:2019,10,HP:0002823,Abnormality of femur morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002286,Orphanet,2019,ORPHA:2019,10,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002286,Orphanet,2019,ORPHA:2019,10,HP:0002997,Abnormality of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002286,Orphanet,2019,ORPHA:2019,10,HP:0003041,Humeroradial synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002286,Orphanet,2019,ORPHA:2019,10,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0002286,Orphanet,2019,ORPHA:2019,10,HP:0005792,Short humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002286,Orphanet,2019,ORPHA:2019,10,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002286,Orphanet,2019,ORPHA:2019,10,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002286,Orphanet,2019,ORPHA:2019,10,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0002967,Cubitus valgus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002287,Orphanet,1184,ORPHA:1184,16,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0001231,Abnormal fingernail morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0001696,Situs inversus totalis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0001792,Small nail,Occasional (29-5%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0001883,Talipes,Frequent (79-30%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0002084,Encephalocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0002323,Anencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0002435,Meningocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0004935,Pulmonary artery atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0009601,Aplasia/Hypoplasia of the thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0009891,Underdeveloped supraorbital ridges,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0010301,Spinal dysraphism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002294,Orphanet,1908,ORPHA:1908,33,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0000967,Petechiae,Frequent (79-30%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0000979,Purpura,Frequent (79-30%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0001263,Global developmental delay,Very rare (<4-1%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0002138,Subarachnoid hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0002249,Melena,Occasional (29-5%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0004809,Neonatal alloimmune thrombocytopenia,Obligate (100%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0007420,Spontaneous hematomas,Frequent (79-30%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0008619,Bilateral sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0012541,Cephalohematoma,Frequent (79-30%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0031364,Ecchymosis,Occasional (29-5%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002295,Orphanet,853,ORPHA:853,17,HP:0100021,Cerebral palsy,Very rare (<4-1%),TAS,,,,"[PMID:17032445, PMID:30827816, PMID:30828796, PMID:30971767]",y,y +GARD:0002303,Orphanet,1909,ORPHA:1909,12,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002303,Orphanet,1909,ORPHA:1909,12,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002303,Orphanet,1909,ORPHA:1909,12,HP:0000091,Abnormal renal tubule morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002303,Orphanet,1909,ORPHA:1909,12,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002303,Orphanet,1909,ORPHA:1909,12,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0002303,Orphanet,1909,ORPHA:1909,12,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002303,Orphanet,1909,ORPHA:1909,12,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0002303,Orphanet,1909,ORPHA:1909,12,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0002303,Orphanet,1909,ORPHA:1909,12,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0002303,Orphanet,1909,ORPHA:1909,12,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002303,Orphanet,1909,ORPHA:1909,12,HP:0001928,Abnormality of coagulation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002303,Orphanet,1909,ORPHA:1909,12,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002304,Orphanet,1910,ORPHA:1910,7,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002304,Orphanet,1910,ORPHA:1910,7,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002304,Orphanet,1910,ORPHA:1910,7,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002304,Orphanet,1910,ORPHA:1910,7,HP:0000821,Hypothyroidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002304,Orphanet,1910,ORPHA:1910,7,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002304,Orphanet,1910,ORPHA:1910,7,HP:0001264,Spastic diplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002304,Orphanet,1910,ORPHA:1910,7,HP:0004374,Hemiplegia/hemiparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002305,Orphanet,1055,ORPHA:1055,6,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:11231449, PMID:1870816]",y,y +GARD:0002305,Orphanet,1055,ORPHA:1055,6,HP:0001711,Abnormal left ventricle morphology,Obligate (100%),TAS,,,,"[PMID:11231449, PMID:1870816]",y,y +GARD:0002305,Orphanet,1055,ORPHA:1055,6,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:11231449, PMID:1870816]",y,y +GARD:0002305,Orphanet,1055,ORPHA:1055,6,HP:0005135,Abnormal T-wave,Occasional (29-5%),TAS,,,,"[PMID:11231449, PMID:1870816]",y,y +GARD:0002305,Orphanet,1055,ORPHA:1055,6,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:11231449, PMID:1870816]",y,y +GARD:0002305,Orphanet,1055,ORPHA:1055,6,HP:0012249,Abnormal ST segment,Occasional (29-5%),TAS,,,,"[PMID:11231449, PMID:1870816]",y,y +GARD:0002308,Orphanet,1918,ORPHA:1918,8,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002308,Orphanet,1918,ORPHA:1918,8,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002308,Orphanet,1918,ORPHA:1918,8,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0002308,Orphanet,1918,ORPHA:1918,8,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002308,Orphanet,1918,ORPHA:1918,8,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002308,Orphanet,1918,ORPHA:1918,8,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002308,Orphanet,1918,ORPHA:1918,8,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002308,Orphanet,1918,ORPHA:1918,8,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0000356,Abnormality of the outer ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0000855,Insulin resistance,Occasional (29-5%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0001171,Split hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0001177,Preaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0001199,Triphalangeal thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0002257,Chronic rhinitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0002991,Abnormality of fibula morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0004059,Radial club hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0005613,Aplasia/hypoplasia of the femur,Frequent (79-30%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0006495,Aplasia/Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0006507,Aplasia/hypoplasia of the humerus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0009601,Aplasia/Hypoplasia of the thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0009813,Upper limb phocomelia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0009892,Anotia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002313,Orphanet,3312,ORPHA:3312,17,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000269,Prominent occiput,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000331,Short chin,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000378,Cupped ear,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000402,Stenosis of the external auditory canal,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000475,Broad neck,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000609,Optic nerve hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000766,Abnormal sternum morphology,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0001172,Abnormal thumb morphology,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0001317,Abnormal cerebellum morphology,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0001533,Slender build,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0001763,Pes planus,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0001837,Broad toe,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0002021,Pyloric stenosis,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0002236,Frontal upsweep of hair,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0002250,Abnormal large intestine morphology,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0002307,Drooling,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0002761,Generalized joint laxity,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0004492,Widely patent fontanelles and sutures,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0004785,Malrotation of colon,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0005852,Limited elbow extension and supination,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0005876,Progressive flexion contractures,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0008935,Generalized neonatal hypotonia,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0009762,Facial wrinkling,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0011090,Fused teeth,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0012433,Abnormal social behavior,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0012506,Small pituitary gland,Frequent (79-30%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002317,Orphanet,93932,ORPHA:93932,72,HP:0040022,Clinodactyly of the 2nd finger,Occasional (29-5%),TAS,,,,"[PMID:19938245, PMID:4365204]",y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0000225,Gingival bleeding,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0000519,Developmental cataract,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0000961,Cyanosis,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0001649,Tachycardia,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0001667,Right ventricular hypertrophy,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0001712,Left ventricular hypertrophy,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0001933,Subcutaneous hemorrhage,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0002179,Opisthotonus,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0002580,Volvulus,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0007185,Loss of consciousness,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0008151,Prolonged prothrombin time,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0009723,Abnormality of the subungual region,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0011029,Internal hemorrhage,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0011884,Abnormal umbilical stump bleeding,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0012223,Splenic rupture,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0012886,Hemorrhagic ovarian cyst,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0100759,Clubbing of fingers,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002320,Orphanet,335,ORPHA:335,26,HP:0100845,Anaphylactic shock,Very frequent (99-80%),TAS,,,,[PMID:7363509],y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000260,Wide anterior fontanel,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000364,Hearing abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000773,Short ribs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000882,Hypoplastic scapulae,Frequent (79-30%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000885,Broad ribs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000940,Abnormal diaphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0001591,Bell-shaped thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0001804,Hypoplastic fingernail,Frequent (79-30%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0002983,Micromelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0002321,Orphanet,2021,ORPHA:2021,29,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0002322,Orphanet,122,ORPHA:122,10,HP:0001012,Multiple lipomas,Frequent (79-30%),TAS,,,,,y,y +GARD:0002322,Orphanet,122,ORPHA:122,10,HP:0002097,Emphysema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002322,Orphanet,122,ORPHA:122,10,HP:0002107,Pneumothorax,Occasional (29-5%),TAS,,,,,y,y +GARD:0002322,Orphanet,122,ORPHA:122,10,HP:0002865,Medullary thyroid carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002322,Orphanet,122,ORPHA:122,10,HP:0002897,Parathyroid adenoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002322,Orphanet,122,ORPHA:122,10,HP:0005584,Renal cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002322,Orphanet,122,ORPHA:122,10,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002322,Orphanet,122,ORPHA:122,10,HP:0010609,Skin tags,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002322,Orphanet,122,ORPHA:122,10,HP:0100632,Pulmonary sequestration,Frequent (79-30%),TAS,,,,,y,y +GARD:0002322,Orphanet,122,ORPHA:122,10,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002324,Orphanet,2026,ORPHA:2026,13,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0002324,Orphanet,2026,ORPHA:2026,13,HP:0000169,Gingival fibromatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002324,Orphanet,2026,ORPHA:2026,13,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002324,Orphanet,2026,ORPHA:2026,13,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0002324,Orphanet,2026,ORPHA:2026,13,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0002324,Orphanet,2026,ORPHA:2026,13,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,,y,y +GARD:0002324,Orphanet,2026,ORPHA:2026,13,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002324,Orphanet,2026,ORPHA:2026,13,HP:0001007,Hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002324,Orphanet,2026,ORPHA:2026,13,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0002324,Orphanet,2026,ORPHA:2026,13,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002324,Orphanet,2026,ORPHA:2026,13,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002324,Orphanet,2026,ORPHA:2026,13,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0002324,Orphanet,2026,ORPHA:2026,13,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0002331,Orphanet,1118,ORPHA:1118,4,HP:0001171,Split hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0002331,Orphanet,1118,ORPHA:1118,4,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002331,Orphanet,1118,ORPHA:1118,4,HP:0002997,Abnormality of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0002331,Orphanet,1118,ORPHA:1118,4,HP:0006492,Aplasia/Hypoplasia of the fibula,Frequent (79-30%),TAS,,,,,y,y +GARD:0002336,Orphanet,1658,ORPHA:1658,9,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002336,Orphanet,1658,ORPHA:1658,9,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002336,Orphanet,1658,ORPHA:1658,9,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,,y,y +GARD:0002336,Orphanet,1658,ORPHA:1658,9,HP:0001056,Milia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002336,Orphanet,1658,ORPHA:1658,9,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0002336,Orphanet,1658,ORPHA:1658,9,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002336,Orphanet,1658,ORPHA:1658,9,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002336,Orphanet,1658,ORPHA:1658,9,HP:0009775,Amniotic constriction ring,Occasional (29-5%),TAS,,,,,y,y +GARD:0002336,Orphanet,1658,ORPHA:1658,9,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0000217,Xerostomia,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0000716,Depression,Very rare (<4-1%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0000969,Edema,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0000973,Cutis laxa,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0001005,Dermatological manifestations of systemic disorders,Very frequent (99-80%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0001097,Keratoconjunctivitis sicca,Very frequent (99-80%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0001149,Lattice corneal dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0001271,Polyneuropathy,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0001488,Bilateral ptosis,Very frequent (99-80%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0002411,Myokymia,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0002483,Bulbar signs,Very rare (<4-1%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0002549,Deficit in phonologic short-term memory,Very rare (<4-1%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0003774,Stage 5 chronic kidney disease,Very rare (<4-1%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0004926,Orthostatic hypotension due to autonomic dysfunction,Occasional (29-5%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0007067,Distal peripheral sensory neuropathy,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0007488,Diffuse skin atrophy,Occasional (29-5%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0008070,Sparse hair,Occasional (29-5%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0008404,Nail dystrophy,Very rare (<4-1%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0010749,Blepharochalasis,Occasional (29-5%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0011356,Regional abnormality of skin,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0011947,Respiratory tract infection,Very rare (<4-1%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0012185,Constrictive median neuropathy,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0012473,Tongue atrophy,Occasional (29-5%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0012804,Corneal ulceration,Frequent (79-30%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002339,Orphanet,85448,ORPHA:85448,41,HP:0025408,Abnormal spleen morphology,Occasional (29-5%),TAS,,,,"[PMID:1333716, PMID:23356404, PMID:25097823, PMID:25342098, PMID:26339870, PMID:27879149, PMID:7836945]",y,y +GARD:0002342,Orphanet,2820,ORPHA:2820,12,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002342,Orphanet,2820,ORPHA:2820,12,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002342,Orphanet,2820,ORPHA:2820,12,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002342,Orphanet,2820,ORPHA:2820,12,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0002342,Orphanet,2820,ORPHA:2820,12,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002342,Orphanet,2820,ORPHA:2820,12,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002342,Orphanet,2820,ORPHA:2820,12,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002342,Orphanet,2820,ORPHA:2820,12,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002342,Orphanet,2820,ORPHA:2820,12,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002342,Orphanet,2820,ORPHA:2820,12,HP:0003510,Severe short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0002342,Orphanet,2820,ORPHA:2820,12,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0002342,Orphanet,2820,ORPHA:2820,12,HP:0010550,Paraplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0001258,Spastic paraplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0001348,Brisk reflexes,Frequent (79-30%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0003189,Long nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0010579,Cone-shaped epiphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002344,Orphanet,2824,ORPHA:2824,21,HP:0010620,Malar prominence,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002346,Orphanet,2045,ORPHA:2045,9,HP:0000492,Abnormal eyelid morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002346,Orphanet,2045,ORPHA:2045,9,HP:0000498,Blepharitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002346,Orphanet,2045,ORPHA:2045,9,HP:0000499,Abnormal eyelash morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002346,Orphanet,2045,ORPHA:2045,9,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002346,Orphanet,2045,ORPHA:2045,9,HP:0000653,Sparse eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002346,Orphanet,2045,ORPHA:2045,9,HP:0000787,Nephrolithiasis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002346,Orphanet,2045,ORPHA:2045,9,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002346,Orphanet,2045,ORPHA:2045,9,HP:0008069,Neoplasm of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002346,Orphanet,2045,ORPHA:2045,9,HP:0100533,Inflammatory abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0000408,Progressive sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0000510,Rod-cone dystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0000820,Abnormality of the thyroid gland,Occasional (29-5%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0002381,Aphasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0002621,Atherosclerosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0004326,Cachexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0004334,Dermal atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0008207,Primary adrenal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0012062,Bone cyst,Frequent (79-30%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,,y,y +GARD:0002347,Orphanet,2047,ORPHA:2047,30,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0002351,Orphanet,2048,ORPHA:2048,8,HP:0001172,Abnormal thumb morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002351,Orphanet,2048,ORPHA:2048,8,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002351,Orphanet,2048,ORPHA:2048,8,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002351,Orphanet,2048,ORPHA:2048,8,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002351,Orphanet,2048,ORPHA:2048,8,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002351,Orphanet,2048,ORPHA:2048,8,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002351,Orphanet,2048,ORPHA:2048,8,HP:0009800,Maternal diabetes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002351,Orphanet,2048,ORPHA:2048,8,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002356,Orphanet,545,ORPHA:545,13,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,,y,y +GARD:0002356,Orphanet,545,ORPHA:545,13,HP:0001287,Meningitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002356,Orphanet,545,ORPHA:545,13,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002356,Orphanet,545,ORPHA:545,13,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002356,Orphanet,545,ORPHA:545,13,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002356,Orphanet,545,ORPHA:545,13,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0002356,Orphanet,545,ORPHA:545,13,HP:0002585,Abnormality of the peritoneum,Occasional (29-5%),TAS,,,,,y,y +GARD:0002356,Orphanet,545,ORPHA:545,13,HP:0002665,Lymphoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002356,Orphanet,545,ORPHA:545,13,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002356,Orphanet,545,ORPHA:545,13,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0002356,Orphanet,545,ORPHA:545,13,HP:0030166,Night sweats,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002356,Orphanet,545,ORPHA:545,13,HP:0100721,Mediastinal lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002356,Orphanet,545,ORPHA:545,13,HP:0200036,Skin nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0002362,Orphanet,3238,ORPHA:3238,11,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002362,Orphanet,3238,ORPHA:3238,11,HP:0000692,Tooth malposition,Frequent (79-30%),TAS,,,,,y,y +GARD:0002362,Orphanet,3238,ORPHA:3238,11,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002362,Orphanet,3238,ORPHA:3238,11,HP:0001634,Mitral valve prolapse,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002362,Orphanet,3238,ORPHA:3238,11,HP:0001653,Mitral regurgitation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002362,Orphanet,3238,ORPHA:3238,11,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0002362,Orphanet,3238,ORPHA:3238,11,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002362,Orphanet,3238,ORPHA:3238,11,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002362,Orphanet,3238,ORPHA:3238,11,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002362,Orphanet,3238,ORPHA:3238,11,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002362,Orphanet,3238,ORPHA:3238,11,HP:0006352,Failure of eruption of permanent teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002365,Orphanet,2795,ORPHA:2795,12,HP:0000016,Urinary retention,Occasional (29-5%),TAS,,,,[PMID:3147005],y,y +GARD:0002365,Orphanet,2795,ORPHA:2795,12,HP:0000020,Urinary incontinence,Very rare (<4-1%),TAS,,,,[PMID:3147005],y,y +GARD:0002365,Orphanet,2795,ORPHA:2795,12,HP:0000132,Menorrhagia,Very rare (<4-1%),TAS,,,,[PMID:3147005],y,y +GARD:0002365,Orphanet,2795,ORPHA:2795,12,HP:0000137,Abnormality of the ovary,Very rare (<4-1%),TAS,,,,[PMID:3147005],y,y +GARD:0002365,Orphanet,2795,ORPHA:2795,12,HP:0000141,Amenorrhea,Very rare (<4-1%),TAS,,,,[PMID:3147005],y,y +GARD:0002365,Orphanet,2795,ORPHA:2795,12,HP:0000147,Polycystic ovaries,Frequent (79-30%),TAS,,,,[PMID:3147005],y,y +GARD:0002365,Orphanet,2795,ORPHA:2795,12,HP:0000795,Abnormality of the urethra,Frequent (79-30%),TAS,,,,[PMID:3147005],y,y +GARD:0002365,Orphanet,2795,ORPHA:2795,12,HP:0000876,Oligomenorrhea,Occasional (29-5%),TAS,,,,[PMID:3147005],y,y +GARD:0002365,Orphanet,2795,ORPHA:2795,12,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,[PMID:3147005],y,y +GARD:0002365,Orphanet,2795,ORPHA:2795,12,HP:0001061,Acne,Occasional (29-5%),TAS,,,,[PMID:3147005],y,y +GARD:0002365,Orphanet,2795,ORPHA:2795,12,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,[PMID:3147005],y,y +GARD:0002365,Orphanet,2795,ORPHA:2795,12,HP:0100518,Dysuria,Frequent (79-30%),TAS,,,,[PMID:3147005],y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0000033,"Ambiguous genitalia, male",Obligate (100%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0000037,Male pseudohermaphroditism,Obligate (100%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0000097,Focal segmental glomerulosclerosis,Very frequent (99-80%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0000100,Nephrotic syndrome,Frequent (79-30%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0000150,Gonadoblastoma,Frequent (79-30%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0002667,Nephroblastoma,Very rare (<4-1%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0008214,Decreased serum estradiol,Very frequent (99-80%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0008723,"Gonadal dysgenesis with female appearance, male",Very frequent (99-80%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0010464,Streak ovary,Frequent (79-30%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002375,Orphanet,347,ORPHA:347,16,HP:0100820,Glomerulopathy,Obligate (100%),TAS,,,,"[PMID:10490448, PMID:12050205, PMID:1329488, PMID:15973330, PMID:20595692, PMID:22815844, PMID:25613702, PMID:3130865, PMID:9090524, PMID:9398852]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0000713,Agitation,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0000718,Aggressive behavior,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0001609,Hoarse voice,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0009904,Prominent ear helix,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0012172,Stereotypical body rocking,Occasional (29-5%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0100023,Recurrent hand flapping,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002378,Orphanet,100973,ORPHA:100973,21,HP:0100710,Impulsivity,Frequent (79-30%),TAS,,,,"[PMID:21739600, PMID:8651274]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0005187,Progressive joint destruction,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0005194,Flattened metatarsal heads,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0008089,Abnormality of the fifth metatarsal bone,Very rare (<4-1%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0010219,Structural foot deformity,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0010630,Abnormality of metatarsal epiphysis,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0010672,Abnormality of the third metatarsal bone,Occasional (29-5%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0025238,Foot pain,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0040034,Abnormality of the second metatarsal bone,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0040035,Abnormality of the fourth metatarsal bone,Very rare (<4-1%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0040188,Osteochondrosis,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0100039,Thickened cortex of bones,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0100662,Chondritis,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002380,Orphanet,564003,ORPHA:564003,19,HP:0100925,Sclerosis of foot bone,Frequent (79-30%),TAS,,,,"[PMID:30685014, PMID:32653393, PMID:32917526]",y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000046,Small scrotum,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000089,Renal hypoplasia,Occasional (29-5%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000378,Cupped ear,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000384,Preauricular skin tag,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000528,Anophthalmia,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000835,Adrenal hypoplasia,Occasional (29-5%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0000873,Diabetes insipidus,Frequent (79-30%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0001773,Short foot,Occasional (29-5%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0010044,Short 4th metacarpal,Occasional (29-5%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0010047,Short 5th metacarpal,Occasional (29-5%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0010627,Anterior pituitary hypoplasia,Frequent (79-30%),TAS,,,,[PMID:16088912],y,y +GARD:0002384,Orphanet,264200,ORPHA:264200,40,HP:0012521,Optic nerve aplasia,Very frequent (99-80%),TAS,,,,[PMID:16088912],y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000456,Bifid nasal tip,Frequent (79-30%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0000636,Upper eyelid coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0001088,Brushfield spots,Frequent (79-30%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0001140,Limbal dermoid,Frequent (79-30%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0002006,Facial cleft,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0002084,Encephalocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0004132,Dimple on nasal tip,Occasional (29-5%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0007036,Hypoplasia of olfactory tract,Frequent (79-30%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0007708,Absent inner eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0100335,Non-midline cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002390,Orphanet,1791,ORPHA:1791,31,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0000008,Abnormal morphology of female internal genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0000776,Congenital diaphragmatic hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0000782,Abnormal scapula morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0001539,Omphalocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0002089,Pulmonary hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0002814,Abnormality of the lower limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0002817,Abnormality of the upper limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0002823,Abnormality of femur morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0004331,Decreased skull ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0006492,Aplasia/Hypoplasia of the fibula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0006495,Aplasia/Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0006507,Aplasia/hypoplasia of the humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002397,Orphanet,2141,ORPHA:2141,16,HP:0100560,Upper limb asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0000980,Pallor,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0001946,Ketosis,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0001998,Neonatal hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0002149,Hyperuricemia,Frequent (79-30%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0002329,Drowsiness,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0002876,Episodic tachypnea,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0003162,Fasting hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0003265,Neonatal hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0003348,Hyperalaninemia,Very rare (<4-1%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0004879,Intermittent hyperventilation,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0004913,Intermittent lactic acidemia,Frequent (79-30%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0005949,Apneic episodes in infancy,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0006582,Reye syndrome-like episodes,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002400,Orphanet,348,ORPHA:348,34,HP:0040301,Increased urinary glycerol,Occasional (29-5%),TAS,,,,"[PMID:1995492, PMID:2347355, PMID:25601412, PMID:28420223, PMID:4193749, PMID:4341015, PMID:9382095]",y,y +GARD:0002408,Orphanet,2497,ORPHA:2497,3,HP:0002986,Radial bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002408,Orphanet,2497,ORPHA:2497,3,HP:0003022,Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002408,Orphanet,2497,ORPHA:2497,3,HP:0009465,Ulnar deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0000446,Narrow nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0001519,Disproportionate tall stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0002827,Hip dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002409,Orphanet,2058,ORPHA:2058,19,HP:0006443,Patellar aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002417,Orphanet,2579,ORPHA:2579,4,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002417,Orphanet,2579,ORPHA:2579,4,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002417,Orphanet,2579,ORPHA:2579,4,HP:0005978,Type II diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002417,Orphanet,2579,ORPHA:2579,4,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002419,Orphanet,2287,ORPHA:2287,2,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002419,Orphanet,2287,ORPHA:2287,2,HP:0006288,Advanced eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0000815,Hypergonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0000842,Hyperinsulinemia,Occasional (29-5%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0001508,Failure to thrive,Very rare (<4-1%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0001518,Small for gestational age,Occasional (29-5%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0001622,Premature birth,Very rare (<4-1%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0001943,Hypoglycemia,Very rare (<4-1%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0002361,Psychomotor deterioration,Very rare (<4-1%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0003124,Hypercholesterolemia,Very rare (<4-1%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0004431,Complement deficiency,Very rare (<4-1%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0008209,Premature ovarian insufficiency,Occasional (29-5%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0011098,Speech apraxia,Occasional (29-5%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0011968,Feeding difficulties,Very rare (<4-1%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0012024,Hypergalactosemia,Very frequent (99-80%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0012768,Neonatal asphyxia,Very rare (<4-1%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0100018,Nuclear cataract,Frequent (79-30%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0410061,Increased level of galactitol in plasma,Very frequent (99-80%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002422,Orphanet,79237,ORPHA:79237,26,HP:0410062,Increased level of galactitol in urine,Very frequent (99-80%),TAS,,,,"[PMID:12705493, PMID:31575690, PMID:32809518]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0000144,Decreased fertility,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0000786,Primary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0000869,Secondary amenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0000876,Oligomenorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001298,Encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001399,Hepatic failure,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001541,Ascites,Very rare (<4-1%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0001928,Abnormality of coagulation,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0002345,Action tremor,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0004302,Functional motor deficit,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0008209,Premature ovarian insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0011098,Speech apraxia,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0012024,Hypergalactosemia,Very frequent (99-80%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0012537,Food intolerance,Very frequent (99-80%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0030272,Abnormal erythrocyte enzyme level,Very frequent (99-80%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0030353,Decreased serum insulin-like growth factor 1,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002424,Orphanet,352,ORPHA:352,47,HP:0410061,Increased level of galactitol in plasma,Very frequent (99-80%),TAS,,,,"[PMID:20301691, PMID:29409891, PMID:31575690]",y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0001539,Omphalocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0002089,Pulmonary hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0002410,Aqueductal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0002566,Intestinal malrotation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0002814,Abnormality of the lower limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0002982,Tibial bowing,Occasional (29-5%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0002986,Radial bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0002991,Abnormality of fibula morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0009816,Lower limb undergrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002427,Orphanet,3035,ORPHA:3035,17,HP:0100569,Abnormally ossified vertebrae,Occasional (29-5%),TAS,,,,,y,y +GARD:0002428,Orphanet,212,ORPHA:212,8,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:14399948, PMID:20584029, PMID:5637757, PMID:6082903]",y,y +GARD:0002428,Orphanet,212,ORPHA:212,8,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:14399948, PMID:20584029, PMID:5637757, PMID:6082903]",y,y +GARD:0002428,Orphanet,212,ORPHA:212,8,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:14399948, PMID:20584029, PMID:5637757, PMID:6082903]",y,y +GARD:0002428,Orphanet,212,ORPHA:212,8,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:14399948, PMID:20584029, PMID:5637757, PMID:6082903]",y,y +GARD:0002428,Orphanet,212,ORPHA:212,8,HP:0001762,Talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:14399948, PMID:20584029, PMID:5637757, PMID:6082903]",y,y +GARD:0002428,Orphanet,212,ORPHA:212,8,HP:0003153,Cystathioninuria,Obligate (100%),TAS,,,,"[PMID:14399948, PMID:20584029, PMID:5637757, PMID:6082903]",y,y +GARD:0002428,Orphanet,212,ORPHA:212,8,HP:0003286,Cystathioninemia,Frequent (79-30%),TAS,,,,"[PMID:14399948, PMID:20584029, PMID:5637757, PMID:6082903]",y,y +GARD:0002428,Orphanet,212,ORPHA:212,8,HP:0008572,External ear malformation,Occasional (29-5%),TAS,,,,"[PMID:14399948, PMID:20584029, PMID:5637757, PMID:6082903]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0000276,Long face,Occasional (29-5%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0001667,Right ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0001771,Achilles tendon contracture,Occasional (29-5%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0002938,Lumbar hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0003391,Gowers sign,Occasional (29-5%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0003484,Upper limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0003707,Calf muscle pseudohypertrophy,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0003722,Neck flexor weakness,Occasional (29-5%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0003730,EMG: myotonic runs,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0004311,Abnormal macrophage morphology,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0008981,Calf muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0025169,Left ventricular systolic dysfunction,Occasional (29-5%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0030007,EMG: positive sharp waves,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0100284,EMG: myotonic discharges,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002429,Orphanet,353,ORPHA:353,27,HP:0100297,Increased endomysial connective tissue,Frequent (79-30%),TAS,,,,"[PMID:10720277, PMID:11053682, PMID:14660840]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0000491,Keratitis,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0002031,Abnormal esophagus morphology,Very frequent (99-80%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0002571,Achalasia,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0003262,Smooth muscle antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0006524,Tracheobronchial leiomyomatosis,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0006756,Diffuse leiomyomatosis,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0010450,Esophageal stenosis,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0010460,Abnormality of the female genitalia,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0010614,Fibroma,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0010784,Uterine neoplasm,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0011501,Anterior lenticonus,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0012252,Abnormal respiratory system morphology,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0012718,Morphological abnormality of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0030416,Vulvar neoplasm,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0032141,Precordial pain,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0100650,Vaginal neoplasm,Occasional (29-5%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0100751,Esophageal neoplasm,Very frequent (99-80%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0100771,Hypoperistalsis,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002432,Orphanet,1018,ORPHA:1018,39,HP:0410281,Dyspepsia,Frequent (79-30%),TAS,,,,"[PMID:23765124, PMID:28275241, PMID:30322718, PMID:3153032]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0001907,Thromboembolism,Very rare (<4-1%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0003075,Hypoproteinemia,Frequent (79-30%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0004295,Abnormal gastric mucosa morphology,Very frequent (99-80%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0004394,Multiple gastric polyps,Occasional (29-5%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0004395,Malnutrition,Frequent (79-30%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0004840,Hypochromic microcytic anemia,Occasional (29-5%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0005202,Helicobacter pylori infection,Frequent (79-30%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0005246,Giant hypertrophic gastritis,Very frequent (99-80%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0012126,Stomach cancer,Occasional (29-5%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0012398,Peripheral edema,Frequent (79-30%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002436,Orphanet,2494,ORPHA:2494,21,HP:0025406,Asthenia,Frequent (79-30%),TAS,,,,"[PMID:20926644, PMID:23303980, PMID:24959292, PMID:26689786, PMID:29027113]",y,y +GARD:0002438,Orphanet,2069,ORPHA:2069,13,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002438,Orphanet,2069,ORPHA:2069,13,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002438,Orphanet,2069,ORPHA:2069,13,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002438,Orphanet,2069,ORPHA:2069,13,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0002438,Orphanet,2069,ORPHA:2069,13,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,,y,y +GARD:0002438,Orphanet,2069,ORPHA:2069,13,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002438,Orphanet,2069,ORPHA:2069,13,HP:0001003,Multiple lentigines,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002438,Orphanet,2069,ORPHA:2069,13,HP:0001677,Coronary artery atherosclerosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002438,Orphanet,2069,ORPHA:2069,13,HP:0002036,Hiatus hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002438,Orphanet,2069,ORPHA:2069,13,HP:0004398,Peptic ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002438,Orphanet,2069,ORPHA:2069,13,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0002438,Orphanet,2069,ORPHA:2069,13,HP:0005978,Type II diabetes mellitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002438,Orphanet,2069,ORPHA:2069,13,HP:0007565,Multiple cafe-au-lait spots,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0000225,Gingival bleeding,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0001637,Abnormal myocardium morphology,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0001876,Pancytopenia,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0001971,Hypersplenism,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0002756,Pathologic fracture,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0002953,Vertebral compression fracture,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0005230,Biliary tract obstruction,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0010702,Increased circulating antibody level,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0010885,Avascular necrosis,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002441,Orphanet,77259,ORPHA:77259,34,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0000602,Ophthalmoplegia,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0001298,Encephalopathy,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0001332,Dystonia,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0001695,Cardiac arrest,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0002793,Abnormal pattern of respiration,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002442,Orphanet,77260,ORPHA:77260,15,HP:0012735,Cough,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0000602,Ophthalmoplegia,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0001298,Encephalopathy,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0001637,Abnormal myocardium morphology,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0001789,Hydrops fetalis,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0001876,Pancytopenia,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0002659,Increased susceptibility to fractures,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0004380,Aortic valve calcification,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0004382,Mitral valve calcification,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0006530,Abnormal pulmonary interstitial morphology,Occasional (29-5%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0010885,Avascular necrosis,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002443,Orphanet,77261,ORPHA:77261,33,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,[PMID:20301446],y,y +GARD:0002451,Orphanet,2074,ORPHA:2074,13,HP:0000035,Abnormal testis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002451,Orphanet,2074,ORPHA:2074,13,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002451,Orphanet,2074,ORPHA:2074,13,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002451,Orphanet,2074,ORPHA:2074,13,HP:0001053,Hypopigmented skin patches,Frequent (79-30%),TAS,,,,,y,y +GARD:0002451,Orphanet,2074,ORPHA:2074,13,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0002451,Orphanet,2074,ORPHA:2074,13,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002451,Orphanet,2074,ORPHA:2074,13,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002451,Orphanet,2074,ORPHA:2074,13,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002451,Orphanet,2074,ORPHA:2074,13,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002451,Orphanet,2074,ORPHA:2074,13,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002451,Orphanet,2074,ORPHA:2074,13,HP:0004374,Hemiplegia/hemiparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002451,Orphanet,2074,ORPHA:2074,13,HP:0007328,Impaired pain sensation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002451,Orphanet,2074,ORPHA:2074,13,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002452,Orphanet,2084,ORPHA:2084,3,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002452,Orphanet,2084,ORPHA:2084,3,HP:0001083,Ectopia lentis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002452,Orphanet,2084,ORPHA:2084,3,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0001357,Plagiocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0001360,Holoprosencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0002673,Coxa valga,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0008479,Hypoplastic vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0012745,Short palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002454,Orphanet,2163,ORPHA:2163,21,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0000037,Male pseudohermaphroditism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0001162,Postaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0001671,Abnormal cardiac septum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0005264,Abnormality of the gallbladder,Occasional (29-5%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0008668,"Gonadal dysgenesis, male",Frequent (79-30%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0100016,Abnormality of mesentery morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002460,Orphanet,2075,ORPHA:2075,25,HP:0100335,Non-midline cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000194,Open mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000364,Hearing abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000534,Abnormal eyebrow morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0002375,Hypokinesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002462,Orphanet,2077,ORPHA:2077,32,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0002469,Orphanet,626,ORPHA:626,14,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002469,Orphanet,626,ORPHA:626,14,HP:0000989,Pruritus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002469,Orphanet,626,ORPHA:626,14,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002469,Orphanet,626,ORPHA:626,14,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0002469,Orphanet,626,ORPHA:626,14,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0002469,Orphanet,626,ORPHA:626,14,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0002469,Orphanet,626,ORPHA:626,14,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002469,Orphanet,626,ORPHA:626,14,HP:0002664,Neoplasm,Frequent (79-30%),TAS,,,,,y,y +GARD:0002469,Orphanet,626,ORPHA:626,14,HP:0002859,Rhabdomyosarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002469,Orphanet,626,ORPHA:626,14,HP:0003764,Nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002469,Orphanet,626,ORPHA:626,14,HP:0005600,Congenital giant melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002469,Orphanet,626,ORPHA:626,14,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0002469,Orphanet,626,ORPHA:626,14,HP:0012056,Cutaneous melanoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002469,Orphanet,626,ORPHA:626,14,HP:0100242,Sarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0000132,Menorrhagia,Frequent (79-30%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0000225,Gingival bleeding,Occasional (29-5%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0000967,Petechiae,Frequent (79-30%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0001902,Giant platelets,Very frequent (99-80%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0002076,Migraine,Very rare (<4-1%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0002099,Asthma,Very rare (<4-1%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0002239,Gastrointestinal hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0002248,Hematemesis,Occasional (29-5%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0004406,"Spontaneous, recurrent epistaxis",Frequent (79-30%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0004846,Prolonged bleeding after surgery,Occasional (29-5%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0006298,Prolonged bleeding after dental extraction,Frequent (79-30%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0007420,Spontaneous hematomas,Frequent (79-30%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0008738,Partially duplicated kidney,Very rare (<4-1%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0011871,Impaired ristocetin-induced platelet aggregation,Obligate (100%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0011879,Decreased platelet glycoprotein Ib-IX-V,Very frequent (99-80%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0012143,Abnormal megakaryocyte morphology,Occasional (29-5%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0012587,Macroscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002470,Orphanet,274,ORPHA:274,21,HP:0040185,Macrothrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:11222377, PMID:1730088, PMID:24934643, PMID:26226975, PMID:28131619]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0000132,Menorrhagia,Occasional (29-5%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0000225,Gingival bleeding,Frequent (79-30%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0003010,Prolonged bleeding time,Very frequent (99-80%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0004406,"Spontaneous, recurrent epistaxis",Very frequent (99-80%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0004846,Prolonged bleeding after surgery,Frequent (79-30%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0004866,Impaired ADP-induced platelet aggregation,Excluded (0%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0007420,Spontaneous hematomas,Occasional (29-5%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0008148,Impaired epinephrine-induced platelet aggregation,Excluded (0%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0011870,Impaired arachidonic acid-induced platelet aggregation,Excluded (0%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0011871,Impaired ristocetin-induced platelet aggregation,Very rare (<4-1%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0011872,Impaired thrombin-induced platelet aggregation,Excluded (0%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0011894,Impaired thromboxane A2 agonist-induced platelet aggregation,Excluded (0%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0012587,Macroscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0030137,Prolonged bleeding following circumcision,Frequent (79-30%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0031128,Impaired collagen-related peptide-induced platelet aggregation,Excluded (0%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0031364,Ecchymosis,Occasional (29-5%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002478,Orphanet,849,ORPHA:849,20,HP:0400008,Menometrorrhagia,Occasional (29-5%),TAS,,,,"[PMID:25728920, PMID:26185478, PMID:27539755, PMID:29575615, PMID:29985398, PMID:30031712]",y,y +GARD:0002483,Orphanet,2085,ORPHA:2085,3,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002483,Orphanet,2085,ORPHA:2085,3,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002483,Orphanet,2085,ORPHA:2085,3,HP:0010535,Sleep apnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002485,Orphanet,98976,ORPHA:98976,4,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002485,Orphanet,98976,ORPHA:98976,4,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,,y,y +GARD:0002485,Orphanet,98976,ORPHA:98976,4,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0002485,Orphanet,98976,ORPHA:98976,4,HP:0001052,Nevus flammeus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0000712,Emotional lability,Frequent (79-30%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0002181,Cerebral edema,Frequent (79-30%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0002354,Memory impairment,Occasional (29-5%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0002463,Language impairment,Frequent (79-30%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0003470,Paralysis,Frequent (79-30%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0012174,Glioblastoma multiforme,Obligate (100%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0012638,Abnormal nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002491,Orphanet,360,ORPHA:360,15,HP:0025461,Abnormal cell morphology,Very frequent (99-80%),TAS,,,,"[PMID:26948367, PMID:28640706]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0000206,Glossitis,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0000820,Abnormality of the thyroid gland,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0000837,Increased circulating gonadotropin level,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0000845,Elevated circulating growth hormone concentration,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0000870,Increased circulating prolactin concentration,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0001031,Subcutaneous lipoma,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0001046,Intermittent jaundice,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0001406,Intrahepatic cholestasis,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0001438,Abnormal abdomen morphology,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0001895,Normochromic anemia,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0001907,Thromboembolism,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0001927,Acanthocytosis,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0002570,Steatorrhea,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0002893,Pituitary adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0002894,Neoplasm of the pancreas,Very frequent (99-80%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0002897,Parathyroid adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0003072,Hypercalcemia,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0003118,Increased circulating cortisol level,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0008200,Primary hyperparathyroidism,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0008256,Adrenocortical adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0010280,Stomatitis,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0012334,Extrahepatic cholestasis,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0012432,Chronic fatigue,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0030145,Lack of bowel sounds,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0030895,Abnormal gastrointestinal motility,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002496,Orphanet,97280,ORPHA:97280,42,HP:0031181,Necrolytic migratory erythema,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:15538929, PMID:16699310, PMID:17122523, PMID:18798544, PMID:18941127, PMID:18957496, PMID:21763589, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:4134714]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0000010,Recurrent urinary tract infections,Very rare (<4-1%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0000027,Azoospermia,Very rare (<4-1%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0000127,Renal salt wasting,Frequent (79-30%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0000846,Adrenal insufficiency,Obligate (100%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0000851,Congenital hypothyroidism,Very rare (<4-1%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0001325,Hypoglycemic coma,Very rare (<4-1%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0001639,Hypertrophic cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0002153,Hyperkalemia,Frequent (79-30%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0002173,Hypoglycemic seizures,Frequent (79-30%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0002445,Tetraplegia,Very rare (<4-1%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0002615,Hypotension,Very frequent (99-80%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0002902,Hyponatremia,Frequent (79-30%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0002960,Autoimmunity,Excluded (0%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0004319,Decreased circulating aldosterone level,Occasional (29-5%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0008163,Decreased circulating cortisol level,Obligate (100%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0011043,Abnormality of circulating adrenocorticotropin level,Very frequent (99-80%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0012432,Chronic fatigue,Frequent (79-30%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0012605,Hypernatriuria,Frequent (79-30%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0012734,Ketotic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0025451,Testicular adrenal rest tumor,Occasional (29-5%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0031076,Impaired cortisol response to insulin stimulation test,Very frequent (99-80%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0031214,Decreased circulating dehydroepiandrosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002498,Orphanet,361,ORPHA:361,36,HP:0100618,Leydig cell neoplasia,Very rare (<4-1%),TAS,,,,"[PMID:12384787, PMID:1320052, PMID:15654338, PMID:22634753, PMID:24601690, PMID:27129361, PMID:4302512, PMID:7627261]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0000789,Infertility,Occasional (29-5%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0000798,Oligospermia,Occasional (29-5%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0000876,Oligomenorrhea,Frequent (79-30%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0001007,Hirsutism,Very frequent (99-80%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0001061,Acne,Frequent (79-30%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0002292,Frontal balding,Occasional (29-5%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0002900,Hypokalemia,Frequent (79-30%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0003118,Increased circulating cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0003154,Increased circulating ACTH level,Very frequent (99-80%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0004319,Decreased circulating aldosterone level,Very frequent (99-80%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0008221,Adrenal hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0010458,Female pseudohermaphroditism,Occasional (29-5%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0012030,Increased urinary cortisol level,Very frequent (99-80%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0030087,Abnormal circulating testosterone concentration,Frequent (79-30%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002499,Orphanet,786,ORPHA:786,21,HP:0200114,Metabolic alkalosis,Frequent (79-30%),TAS,,,,"[PMID:11932321, PMID:18319312, PMID:24483153, PMID:3771797, PMID:6282933, PMID:8239231]",y,y +GARD:0002513,Orphanet,2089,ORPHA:2089,14,HP:0000737,Irritability,Frequent (79-30%),TAS,,,,[PMID:16337419],y,y +GARD:0002513,Orphanet,2089,ORPHA:2089,14,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:16337419],y,y +GARD:0002513,Orphanet,2089,ORPHA:2089,14,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,[PMID:16337419],y,y +GARD:0002513,Orphanet,2089,ORPHA:2089,14,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:16337419],y,y +GARD:0002513,Orphanet,2089,ORPHA:2089,14,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,[PMID:16337419],y,y +GARD:0002513,Orphanet,2089,ORPHA:2089,14,HP:0001946,Ketosis,Frequent (79-30%),TAS,,,,[PMID:16337419],y,y +GARD:0002513,Orphanet,2089,ORPHA:2089,14,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,[PMID:16337419],y,y +GARD:0002513,Orphanet,2089,ORPHA:2089,14,HP:0002919,Ketonuria,Frequent (79-30%),TAS,,,,[PMID:16337419],y,y +GARD:0002513,Orphanet,2089,ORPHA:2089,14,HP:0003076,Glycosuria,Frequent (79-30%),TAS,,,,[PMID:16337419],y,y +GARD:0002513,Orphanet,2089,ORPHA:2089,14,HP:0003077,Hyperlipidemia,Occasional (29-5%),TAS,,,,[PMID:16337419],y,y +GARD:0002513,Orphanet,2089,ORPHA:2089,14,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,[PMID:16337419],y,y +GARD:0002513,Orphanet,2089,ORPHA:2089,14,HP:0011024,Abnormality of the gastrointestinal tract,Occasional (29-5%),TAS,,,,[PMID:16337419],y,y +GARD:0002513,Orphanet,2089,ORPHA:2089,14,HP:0011998,Postprandial hyperglycemia,Frequent (79-30%),TAS,,,,[PMID:16337419],y,y +GARD:0002513,Orphanet,2089,ORPHA:2089,14,HP:0012734,Ketotic hypoglycemia,Frequent (79-30%),TAS,,,,[PMID:16337419],y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000105,Enlarged kidney,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000132,Menorrhagia,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000147,Polycystic ovaries,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000155,Oral ulcer,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000230,Gingivitis,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000311,Round face,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000696,Delayed eruption of permanent teeth,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000704,Periodontitis,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000858,Irregular menstruation,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0001114,Xanthelasma,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0001402,Hepatocellular carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0001538,Protuberant abdomen,Very frequent (99-80%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0001733,Pancreatitis,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0001997,Gout,Very rare (<4-1%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0002037,Inflammation of the large intestine,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0002149,Hyperuricemia,Very frequent (99-80%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0002173,Hypoglycemic seizures,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0002718,Recurrent bacterial infections,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0003077,Hyperlipidemia,Very frequent (99-80%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0003124,Hypercholesterolemia,Very frequent (99-80%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0003774,Stage 5 chronic kidney disease,Very rare (<4-1%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0004387,Enterocolitis,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0005576,Tubulointerstitial fibrosis,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0006568,Increased hepatic glycogen content,Very frequent (99-80%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0010974,Abnormal myeloid leukocyte morphology,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0011890,Prolonged bleeding following procedure,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0012028,Hepatocellular adenoma,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0012146,Abnormality of von Willebrand factor,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0030950,Pulmonary venous hypertension,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0100279,Ulcerative colitis,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0100512,Low levels of vitamin D,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0100646,Thyroiditis,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002515,Orphanet,79259,ORPHA:79259,61,HP:0410252,Chronic neutropenia,Frequent (79-30%),TAS,,,,"[PMID:20301489, PMID:30480935, PMID:31705665]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001409,Portal hypertension,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001410,Decreased liver function,Very frequent (99-80%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001644,Dilated cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001790,Nonimmune hydrops fetalis,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0001989,Fetal akinesia sequence,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0002040,Esophageal varix,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0003645,Prolonged partial thromboplastin time,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0006829,Severe muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0008151,Prolonged prothrombin time,Occasional (29-5%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0011354,Generalized abnormality of skin,Very frequent (99-80%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0012269,Abnormal muscle glycogen content,Very frequent (99-80%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0031331,Abnormal cardiomyocyte morphology,Very frequent (99-80%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002520,Orphanet,367,ORPHA:367,30,HP:0500032,Abnormal neuron branching,Very frequent (99-80%),TAS,,,,"[PMID:23285490, PMID:30228975, PMID:31363843]",y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0002333,Motor deterioration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0004343,Abnormal glycosphingolipid metabolism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0007272,Progressive psychomotor deterioration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0010729,Cherry red spot of the macula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002521,Orphanet,796,ORPHA:796,19,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002523,Orphanet,2090,ORPHA:2090,13,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002523,Orphanet,2090,ORPHA:2090,13,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002523,Orphanet,2090,ORPHA:2090,13,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0002523,Orphanet,2090,ORPHA:2090,13,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002523,Orphanet,2090,ORPHA:2090,13,HP:0000558,Rieger anomaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002523,Orphanet,2090,ORPHA:2090,13,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002523,Orphanet,2090,ORPHA:2090,13,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002523,Orphanet,2090,ORPHA:2090,13,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0002523,Orphanet,2090,ORPHA:2090,13,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002523,Orphanet,2090,ORPHA:2090,13,HP:0004467,Preauricular pit,Frequent (79-30%),TAS,,,,,y,y +GARD:0002523,Orphanet,2090,ORPHA:2090,13,HP:0005180,Tricuspid regurgitation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002523,Orphanet,2090,ORPHA:2090,13,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002523,Orphanet,2090,ORPHA:2090,13,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0000069,Abnormality of the ureter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0000133,Gonadal dysgenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0000147,Polycystic ovaries,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0000288,Abnormality of the philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0001176,Large hands,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0002000,Short columella,Frequent (79-30%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0004422,Biparietal narrowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0004467,Preauricular pit,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0010720,Abnormal hair pattern,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0011342,Mild global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002541,Orphanet,1770,ORPHA:1770,26,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0002105,Hemoptysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0002113,Pulmonary infiltrates,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0002633,Vasculitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0006335,Persistence of primary teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0100749,Chest pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002551,Orphanet,375,ORPHA:375,19,HP:0100820,Glomerulopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002553,Orphanet,376,ORPHA:376,14,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002553,Orphanet,376,ORPHA:376,14,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0002553,Orphanet,376,ORPHA:376,14,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0002553,Orphanet,376,ORPHA:376,14,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0002553,Orphanet,376,ORPHA:376,14,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0002553,Orphanet,376,ORPHA:376,14,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0002553,Orphanet,376,ORPHA:376,14,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0002553,Orphanet,376,ORPHA:376,14,HP:0001883,Talipes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002553,Orphanet,376,ORPHA:376,14,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002553,Orphanet,376,ORPHA:376,14,HP:0003199,Decreased muscle mass,Frequent (79-30%),TAS,,,,,y,y +GARD:0002553,Orphanet,376,ORPHA:376,14,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0002553,Orphanet,376,ORPHA:376,14,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0002553,Orphanet,376,ORPHA:376,14,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002553,Orphanet,376,ORPHA:376,14,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002557,Orphanet,2111,ORPHA:2111,5,HP:0000003,Multicystic kidney dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002557,Orphanet,2111,ORPHA:2111,5,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002557,Orphanet,2111,ORPHA:2111,5,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0002557,Orphanet,2111,ORPHA:2111,5,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0002557,Orphanet,2111,ORPHA:2111,5,HP:0002206,Pulmonary fibrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0000592,Blue sclerae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0000912,Sprengel anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0001024,Skin dimple over apex of long bone angulation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0001373,Joint dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0002644,Abnormality of pelvic girdle bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0002645,Wormian bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0004331,Decreased skull ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0010807,Open bite,Frequent (79-30%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0011912,Abnormality of the glenoid fossa,Frequent (79-30%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,,y,y +GARD:0002559,Orphanet,2097,ORPHA:2097,25,HP:0100729,Large face,Frequent (79-30%),TAS,,,,,y,y +GARD:0002562,Orphanet,721,ORPHA:721,8,HP:0000140,Abnormality of the menstrual cycle,Frequent (79-30%),TAS,,,,,y,y +GARD:0002562,Orphanet,721,ORPHA:721,8,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002562,Orphanet,721,ORPHA:721,8,HP:0000978,Bruising susceptibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002562,Orphanet,721,ORPHA:721,8,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002562,Orphanet,721,ORPHA:721,8,HP:0001872,Abnormality of thrombocytes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002562,Orphanet,721,ORPHA:721,8,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002562,Orphanet,721,ORPHA:721,8,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002562,Orphanet,721,ORPHA:721,8,HP:0002863,Myelodysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0000488,Retinopathy,Very frequent (99-80%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0000651,Diplopia,Very frequent (99-80%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0007443,Partial albinism,Very frequent (99-80%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0011364,White hair,Very frequent (99-80%),TAS,,,,[PMID:22711375],y,y +GARD:0002566,Orphanet,79476,ORPHA:79476,16,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,[PMID:22711375],y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0000600,Abnormality of the pharynx,Frequent (79-30%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0000992,Cutaneous photosensitivity,Occasional (29-5%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0002028,Chronic diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0002301,Hemiplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0002570,Steatorrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0002588,Duodenal ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,,y,y +GARD:0002568,Orphanet,3217,ORPHA:3217,16,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000036,Abnormal penis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000039,Epispadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000159,Abnormal lip morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000176,Submucous cleft hard palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0000944,Abnormality of the metaphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0003172,Abnormality of the pubic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0003241,External genital hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0003712,Skeletal muscle hypertrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0004493,Craniofacial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0008499,High hypermetropia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0008818,Large iliac wing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0030690,Gingival cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0100333,Unilateral cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0002572,Orphanet,2588,ORPHA:2588,47,HP:0100541,Femoral hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0000496,Abnormality of eye movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0000592,Blue sclerae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0000964,Eczema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0001338,Partial agenesis of the corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0004097,Deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002576,Orphanet,2101,ORPHA:2101,15,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0000717,Autism,Occasional (29-5%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0001252,Hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0002305,Athetosis,Occasional (29-5%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0002457,Abnormal head movements,Occasional (29-5%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0007153,Progressive extrapyramidal movement disorder,Frequent (79-30%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002578,Orphanet,382,ORPHA:382,22,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:15651030, PMID:20301745, PMID:78088440, PMID:8651275, PMID:9386672]",y,y +GARD:0002580,Orphanet,1661,ORPHA:1661,4,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002580,Orphanet,1661,ORPHA:1661,4,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0002580,Orphanet,1661,ORPHA:1661,4,HP:0000615,Abnormal pupil morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002580,Orphanet,1661,ORPHA:1661,4,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0000944,Abnormality of the metaphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0001344,Absent speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0002208,Coarse hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0002217,Slow-growing hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0009826,Limb undergrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0012471,Thick vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002586,Orphanet,2107,ORPHA:2107,29,HP:0100874,Thick hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0002589,Orphanet,2926,ORPHA:2926,9,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002589,Orphanet,2926,ORPHA:2926,9,HP:0001460,Aplasia/Hypoplasia involving the skeletal musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002589,Orphanet,2926,ORPHA:2926,9,HP:0002046,Heat intolerance,Frequent (79-30%),TAS,,,,,y,y +GARD:0002589,Orphanet,2926,ORPHA:2926,9,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002589,Orphanet,2926,ORPHA:2926,9,HP:0003560,Muscular dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002589,Orphanet,2926,ORPHA:2926,9,HP:0004370,Abnormality of temperature regulation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002589,Orphanet,2926,ORPHA:2926,9,HP:0007328,Impaired pain sensation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002589,Orphanet,2926,ORPHA:2926,9,HP:0040129,Abnormal nerve conduction velocity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002589,Orphanet,2926,ORPHA:2926,9,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002593,Orphanet,1927,ORPHA:1927,12,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0002593,Orphanet,1927,ORPHA:1927,12,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002593,Orphanet,1927,ORPHA:1927,12,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002593,Orphanet,1927,ORPHA:1927,12,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002593,Orphanet,1927,ORPHA:1927,12,HP:0001172,Abnormal thumb morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002593,Orphanet,1927,ORPHA:1927,12,HP:0001319,Neonatal hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002593,Orphanet,1927,ORPHA:1927,12,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0002593,Orphanet,1927,ORPHA:1927,12,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002593,Orphanet,1927,ORPHA:1927,12,HP:0006070,Metacarpophalangeal joint contracture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002593,Orphanet,1927,ORPHA:1927,12,HP:0009626,Contractures of the interphalangeal joint of the thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002593,Orphanet,1927,ORPHA:1927,12,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002593,Orphanet,1927,ORPHA:1927,12,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0000010,Recurrent urinary tract infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0000074,Ureteropelvic junction obstruction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0000130,Abnormality of the uterus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0000795,Abnormality of the urethra,Frequent (79-30%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0000813,Bicornuate uterus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0001162,Postaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0005268,Miscarriage,Occasional (29-5%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0006110,Shortening of all middle phalanges of the fingers,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0008080,Hallux varus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0009623,Proximal placement of thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0009778,Short thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0010034,Short 1st metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0010105,Short first metatarsal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0010109,Short hallux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002594,Orphanet,2438,ORPHA:2438,25,HP:0011937,Hypoplastic fifth toenail,Frequent (79-30%),TAS,,,,,y,y +GARD:0002597,Orphanet,3294,ORPHA:3294,6,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002597,Orphanet,3294,ORPHA:3294,6,HP:0000991,Xanthomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002597,Orphanet,3294,ORPHA:3294,6,HP:0001012,Multiple lipomas,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002597,Orphanet,3294,ORPHA:3294,6,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0002597,Orphanet,3294,ORPHA:3294,6,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002597,Orphanet,3294,ORPHA:3294,6,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002598,Orphanet,2812,ORPHA:2812,12,HP:0000311,Round face,Occasional (29-5%),TAS,,,,,y,y +GARD:0002598,Orphanet,2812,ORPHA:2812,12,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0002598,Orphanet,2812,ORPHA:2812,12,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002598,Orphanet,2812,ORPHA:2812,12,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002598,Orphanet,2812,ORPHA:2812,12,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0002598,Orphanet,2812,ORPHA:2812,12,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002598,Orphanet,2812,ORPHA:2812,12,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0002598,Orphanet,2812,ORPHA:2812,12,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002598,Orphanet,2812,ORPHA:2812,12,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0002598,Orphanet,2812,ORPHA:2812,12,HP:0006596,Restricted chest movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002598,Orphanet,2812,ORPHA:2812,12,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,,y,y +GARD:0002598,Orphanet,2812,ORPHA:2812,12,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000176,Submucous cleft hard palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000528,Anophthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000541,Retinal detachment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000556,Retinal dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000587,Abnormality of the optic nerve,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001302,Pachygyria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001305,Dandy-Walker malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001331,Absent septum pellucidum,Frequent (79-30%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001339,Lissencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0001460,Aplasia/Hypoplasia involving the skeletal musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0002126,Polymicrogyria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0002269,Abnormality of neuronal migration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0002334,Abnormal cerebellar vermis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0002536,Abnormal cortical gyration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0003560,Muscular dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0007227,Macrogyria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0007731,Chorioretinal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0007973,Retinal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0010508,Metatarsus valgus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0012400,Abnormal aldolase level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0040081,Abnormal circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002599,Orphanet,899,ORPHA:899,51,HP:0045040,Abnormal lactate dehydrogenase level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0000648,Optic atrophy,Excluded (0%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0000819,Diabetes mellitus,Excluded (0%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0001638,Cardiomyopathy,Excluded (0%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0002061,Lower limb spasticity,Occasional (29-5%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0003115,Abnormal EKG,Occasional (29-5%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0003700,Generalized amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0005775,Multiple skeletal anomalies,Excluded (0%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0006895,Lower limb hypertonia,Frequent (79-30%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0007083,Hyperactive patellar reflex,Frequent (79-30%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0007340,Lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0007350,Hyperreflexia in upper limbs,Frequent (79-30%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0008003,Jerky ocular pursuit movements,Frequent (79-30%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0010794,Impaired visuospatial constructive cognition,Occasional (29-5%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002600,Orphanet,1177,ORPHA:1177,24,HP:0200101,Decreased/absent ankle reflexes,Occasional (29-5%),TAS,,,,"[PMID:1884166, PMID:2213043, PMID:7276963, PMID:8330454, PMID:9686785]",y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0000307,Pointed chin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0000689,Dental malocclusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0001053,Hypopigmented skin patches,Frequent (79-30%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0002644,Abnormality of pelvic girdle bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0003043,Abnormal shoulder morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0003189,Long nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002601,Orphanet,2115,ORPHA:2115,26,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0000243,Trigonocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0000308,Microretrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0000821,Hypothyroidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0001199,Triphalangeal thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0008046,Abnormal retinal vascular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0008499,High hypermetropia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0009775,Amniotic constriction ring,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002605,Orphanet,2994,ORPHA:2994,28,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0002613,Orphanet,1354,ORPHA:1354,14,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002613,Orphanet,1354,ORPHA:1354,14,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002613,Orphanet,1354,ORPHA:1354,14,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002613,Orphanet,1354,ORPHA:1354,14,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002613,Orphanet,1354,ORPHA:1354,14,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002613,Orphanet,1354,ORPHA:1354,14,HP:0001631,Atrial septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002613,Orphanet,1354,ORPHA:1354,14,HP:0001633,Abnormal mitral valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002613,Orphanet,1354,ORPHA:1354,14,HP:0001702,Abnormal tricuspid valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002613,Orphanet,1354,ORPHA:1354,14,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002613,Orphanet,1354,ORPHA:1354,14,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002613,Orphanet,1354,ORPHA:1354,14,HP:0003498,Disproportionate short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002613,Orphanet,1354,ORPHA:1354,14,HP:0004414,Abnormality of the pulmonary artery,Frequent (79-30%),TAS,,,,,y,y +GARD:0002613,Orphanet,1354,ORPHA:1354,14,HP:0005026,Mesomelic/rhizomelic limb shortening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002613,Orphanet,1354,ORPHA:1354,14,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002620,Orphanet,2119,ORPHA:2119,12,HP:0000519,Developmental cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002620,Orphanet,2119,ORPHA:2119,12,HP:0000600,Abnormality of the pharynx,Frequent (79-30%),TAS,,,,,y,y +GARD:0002620,Orphanet,2119,ORPHA:2119,12,HP:0000615,Abnormal pupil morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002620,Orphanet,2119,ORPHA:2119,12,HP:0001334,Communicating hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002620,Orphanet,2119,ORPHA:2119,12,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002620,Orphanet,2119,ORPHA:2119,12,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002620,Orphanet,2119,ORPHA:2119,12,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002620,Orphanet,2119,ORPHA:2119,12,HP:0001706,Endocardial fibroelastosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002620,Orphanet,2119,ORPHA:2119,12,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002620,Orphanet,2119,ORPHA:2119,12,HP:0008046,Abnormal retinal vascular morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002620,Orphanet,2119,ORPHA:2119,12,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002620,Orphanet,2119,ORPHA:2119,12,HP:0100673,Vaginal hydrocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002621,Orphanet,3377,ORPHA:3377,7,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002621,Orphanet,3377,ORPHA:3377,7,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002621,Orphanet,3377,ORPHA:3377,7,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002621,Orphanet,3377,ORPHA:3377,7,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002621,Orphanet,3377,ORPHA:3377,7,HP:0003011,Abnormality of the musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002621,Orphanet,3377,ORPHA:3377,7,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002621,Orphanet,3377,ORPHA:3377,7,HP:0009773,Symphalangism affecting the phalanges of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002622,Orphanet,2492,ORPHA:2492,10,HP:0001171,Split hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0002622,Orphanet,2492,ORPHA:2492,10,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002622,Orphanet,2492,ORPHA:2492,10,HP:0001626,Abnormality of the cardiovascular system,Frequent (79-30%),TAS,,,,,y,y +GARD:0002622,Orphanet,2492,ORPHA:2492,10,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0002622,Orphanet,2492,ORPHA:2492,10,HP:0002991,Abnormality of fibula morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002622,Orphanet,2492,ORPHA:2492,10,HP:0002992,Abnormality of tibia morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002622,Orphanet,2492,ORPHA:2492,10,HP:0004050,Absent hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002622,Orphanet,2492,ORPHA:2492,10,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0002622,Orphanet,2492,ORPHA:2492,10,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002622,Orphanet,2492,ORPHA:2492,10,HP:0008368,Tarsal synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002630,Orphanet,2128,ORPHA:2128,12,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002630,Orphanet,2128,ORPHA:2128,12,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002630,Orphanet,2128,ORPHA:2128,12,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0002630,Orphanet,2128,ORPHA:2128,12,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0002630,Orphanet,2128,ORPHA:2128,12,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,,y,y +GARD:0002630,Orphanet,2128,ORPHA:2128,12,HP:0001528,Hemihypertrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002630,Orphanet,2128,ORPHA:2128,12,HP:0001555,Asymmetry of the thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002630,Orphanet,2128,ORPHA:2128,12,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0002630,Orphanet,2128,ORPHA:2128,12,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002630,Orphanet,2128,ORPHA:2128,12,HP:0002667,Nephroblastoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002630,Orphanet,2128,ORPHA:2128,12,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002630,Orphanet,2128,ORPHA:2128,12,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002633,Orphanet,1241,ORPHA:1241,8,HP:0000176,Submucous cleft hard palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0002633,Orphanet,1241,ORPHA:1241,8,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002633,Orphanet,1241,ORPHA:1241,8,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002633,Orphanet,1241,ORPHA:1241,8,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002633,Orphanet,1241,ORPHA:1241,8,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0002633,Orphanet,1241,ORPHA:1241,8,HP:0000646,Amblyopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002633,Orphanet,1241,ORPHA:1241,8,HP:0005325,Extension of hair growth on temples to lateral eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002633,Orphanet,1241,ORPHA:1241,8,HP:0010807,Open bite,Frequent (79-30%),TAS,,,,,y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0000267,Cranial asymmetry,Frequent (79-30%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0000929,Abnormal skull morphology,Frequent (79-30%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0002126,Polymicrogyria,Frequent (79-30%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0002171,Gliosis,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0002282,Gray matter heterotopia,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0002392,EEG with polyspike wave complexes,Frequent (79-30%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0007206,Hemimegalencephaly,Frequent (79-30%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0010819,Atonic seizure,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0010851,EEG with burst suppression,Frequent (79-30%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0011097,Epileptic spasm,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0011153,Focal motor seizure,Frequent (79-30%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0011167,Focal tonic seizure,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0011193,EEG with focal spikes,Frequent (79-30%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0011195,EEG with focal sharp slow waves,Frequent (79-30%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0011215,Hemihypsarrhythmia,Frequent (79-30%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0012246,Oculomotor nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0012377,Hemianopia,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0012757,Abnormal neuron morphology,Occasional (29-5%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0025356,Psychomotor retardation,Frequent (79-30%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0025373,Interictal EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0030890,Hyperintensity of cerebral white matter on MRI,Very frequent (99-80%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002637,Orphanet,99802,ORPHA:99802,33,HP:0032046,Focal cortical dysplasia,Frequent (79-30%),TAS,,,,"[PMID:16821075, PMID:25296542, PMID:30677308]",y,y +GARD:0002641,Orphanet,2133,ORPHA:2133,13,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:17654063, PMID:21886666, PMID:27456306]",y,y +GARD:0002641,Orphanet,2133,ORPHA:2133,13,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:17654063, PMID:21886666, PMID:27456306]",y,y +GARD:0002641,Orphanet,2133,ORPHA:2133,13,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:17654063, PMID:21886666, PMID:27456306]",y,y +GARD:0002641,Orphanet,2133,ORPHA:2133,13,HP:0004817,Drug-sensitive hemolytic anemia,Occasional (29-5%),TAS,,,,"[PMID:17654063, PMID:21886666, PMID:27456306]",y,y +GARD:0002641,Orphanet,2133,ORPHA:2133,13,HP:0004840,Hypochromic microcytic anemia,Very frequent (99-80%),TAS,,,,"[PMID:17654063, PMID:21886666, PMID:27456306]",y,y +GARD:0002641,Orphanet,2133,ORPHA:2133,13,HP:0005268,Miscarriage,Very rare (<4-1%),TAS,,,,"[PMID:17654063, PMID:21886666, PMID:27456306]",y,y +GARD:0002641,Orphanet,2133,ORPHA:2133,13,HP:0005546,Increased red cell osmotic resistance,Occasional (29-5%),TAS,,,,"[PMID:17654063, PMID:21886666, PMID:27456306]",y,y +GARD:0002641,Orphanet,2133,ORPHA:2133,13,HP:0010972,Anemia of inadequate production,Very frequent (99-80%),TAS,,,,"[PMID:17654063, PMID:21886666, PMID:27456306]",y,y +GARD:0002641,Orphanet,2133,ORPHA:2133,13,HP:0011902,Abnormal hemoglobin,Very frequent (99-80%),TAS,,,,"[PMID:17654063, PMID:21886666, PMID:27456306]",y,y +GARD:0002641,Orphanet,2133,ORPHA:2133,13,HP:0011905,Reduced hemoglobin A,Frequent (79-30%),TAS,,,,"[PMID:17654063, PMID:21886666, PMID:27456306]",y,y +GARD:0002641,Orphanet,2133,ORPHA:2133,13,HP:0020059,Increased red blood cell count,Very frequent (99-80%),TAS,,,,"[PMID:17654063, PMID:21886666, PMID:27456306]",y,y +GARD:0002641,Orphanet,2133,ORPHA:2133,13,HP:0025066,Decreased mean corpuscular volume,Very frequent (99-80%),TAS,,,,"[PMID:17654063, PMID:21886666, PMID:27456306]",y,y +GARD:0002641,Orphanet,2133,ORPHA:2133,13,HP:0032231,Hypochromia,Very frequent (99-80%),TAS,,,,"[PMID:17654063, PMID:21886666, PMID:27456306]",y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0000069,Abnormality of the ureter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0001562,Oligohydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0001852,Sandal gap,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0001928,Abnormality of coagulation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0006703,Aplasia/Hypoplasia of the lungs,Frequent (79-30%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002642,Orphanet,1046,ORPHA:1046,20,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0001907,Thromboembolism,Very frequent (99-80%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0001973,Autoimmune thrombocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0002625,Deep venous thrombosis,Frequent (79-30%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0002637,Cerebral ischemia,Occasional (29-5%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0003144,Increased serum serotonin,Frequent (79-30%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0004420,Arterial thrombosis,Frequent (79-30%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0004936,Venous thrombosis,Frequent (79-30%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0005521,Disseminated intravascular coagulation,Occasional (29-5%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0012649,Increased inflammatory response,Occasional (29-5%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0030248,Mesenteric venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0040231,Abnormal onset of bleeding,Very rare (<4-1%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002650,Orphanet,3325,ORPHA:3325,15,HP:0100724,Hypercoagulability,Very frequent (99-80%),TAS,,,,"[PMID:27230048, PMID:29649767, PMID:30126928, PMID:30284726, PMID:30502310]",y,y +GARD:0002658,Orphanet,882,ORPHA:882,6,HP:0001402,Hepatocellular carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002658,Orphanet,882,ORPHA:882,6,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002658,Orphanet,882,ORPHA:882,6,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002658,Orphanet,882,ORPHA:882,6,HP:0002909,Generalized aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002658,Orphanet,882,ORPHA:882,6,HP:0006463,Rickets of the lower limbs,Occasional (29-5%),TAS,,,,,y,y +GARD:0002658,Orphanet,882,ORPHA:882,6,HP:0006554,Acute hepatic failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0000961,Cyanosis,Very frequent (99-80%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0001276,Hypertonia,Very rare (<4-1%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0001518,Small for gestational age,Very rare (<4-1%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0002283,Global brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0002305,Athetosis,Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0002451,Limb dystonia,Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0002510,Spastic tetraplegia,Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0006808,Cerebral hypomyelination,Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0006913,Frontal cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0007112,Temporal cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0012119,Methemoglobinemia,Very frequent (99-80%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0012448,Delayed myelination,Very rare (<4-1%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0012697,Small basal ganglia,Very rare (<4-1%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002659,Orphanet,621,ORPHA:621,26,HP:0025118,Lip discoloration,Frequent (79-30%),TAS,,,,"[PMID:10874300, PMID:24266649, PMID:29482478, PMID:7718898, PMID:9695975]",y,y +GARD:0002682,Orphanet,1808,ORPHA:1808,10,HP:0000653,Sparse eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002682,Orphanet,1808,ORPHA:1808,10,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002682,Orphanet,1808,ORPHA:1808,10,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002682,Orphanet,1808,ORPHA:1808,10,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002682,Orphanet,1808,ORPHA:1808,10,HP:0002215,Sparse axillary hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0002682,Orphanet,1808,ORPHA:1808,10,HP:0002223,Absent eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002682,Orphanet,1808,ORPHA:1808,10,HP:0002225,Sparse pubic hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0002682,Orphanet,1808,ORPHA:1808,10,HP:0008401,Onychogryposis of toenails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002682,Orphanet,1808,ORPHA:1808,10,HP:0008404,Nail dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002682,Orphanet,1808,ORPHA:1808,10,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002690,Orphanet,2114,ORPHA:2114,11,HP:0001385,Hip dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002690,Orphanet,2114,ORPHA:2114,11,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002690,Orphanet,2114,ORPHA:2114,11,HP:0002758,Osteoarthritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002690,Orphanet,2114,ORPHA:2114,11,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002690,Orphanet,2114,ORPHA:2114,11,HP:0002812,Coxa vara,Occasional (29-5%),TAS,,,,,y,y +GARD:0002690,Orphanet,2114,ORPHA:2114,11,HP:0004348,Abnormality of bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002690,Orphanet,2114,ORPHA:2114,11,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002690,Orphanet,2114,ORPHA:2114,11,HP:0006429,Broad femoral neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002690,Orphanet,2114,ORPHA:2114,11,HP:0009107,Abnormal ossification involving the femoral head and neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002690,Orphanet,2114,ORPHA:2114,11,HP:0010574,Abnormality of the epiphysis of the femoral head,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002690,Orphanet,2114,ORPHA:2114,11,HP:0011849,Abnormal bone ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002695,Orphanet,2151,ORPHA:2151,8,HP:0000615,Abnormal pupil morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002695,Orphanet,2151,ORPHA:2151,8,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002695,Orphanet,2151,ORPHA:2151,8,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002695,Orphanet,2151,ORPHA:2151,8,HP:0001657,Prolonged QT interval,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002695,Orphanet,2151,ORPHA:2151,8,HP:0002251,Aganglionic megacolon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002695,Orphanet,2151,ORPHA:2151,8,HP:0004375,Neoplasm of the nervous system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002695,Orphanet,2151,ORPHA:2151,8,HP:0006747,Ganglioneuroblastoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002695,Orphanet,2151,ORPHA:2151,8,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002700,Orphanet,2150,ORPHA:2150,6,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002700,Orphanet,2150,ORPHA:2150,6,HP:0001804,Hypoplastic fingernail,Frequent (79-30%),TAS,,,,,y,y +GARD:0002700,Orphanet,2150,ORPHA:2150,6,HP:0002251,Aganglionic megacolon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002700,Orphanet,2150,ORPHA:2150,6,HP:0009650,Short distal phalanx of the thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0002700,Orphanet,2150,ORPHA:2150,6,HP:0010111,Short phalanx of hallux,Frequent (79-30%),TAS,,,,,y,y +GARD:0002700,Orphanet,2150,ORPHA:2150,6,HP:0010624,Aplastic/hypoplastic toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002706,Orphanet,3283,ORPHA:3283,4,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002706,Orphanet,3283,ORPHA:3283,4,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002706,Orphanet,3283,ORPHA:3283,4,HP:0011716,Junctional ectopic tachycardia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002706,Orphanet,3283,ORPHA:3283,4,HP:0100544,Neoplasm of the heart,Occasional (29-5%),TAS,,,,,y,y +GARD:0002708,Orphanet,2158,ORPHA:2158,14,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002708,Orphanet,2158,ORPHA:2158,14,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002708,Orphanet,2158,ORPHA:2158,14,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002708,Orphanet,2158,ORPHA:2158,14,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002708,Orphanet,2158,ORPHA:2158,14,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002708,Orphanet,2158,ORPHA:2158,14,HP:0001800,Hypoplastic toenails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002708,Orphanet,2158,ORPHA:2158,14,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002708,Orphanet,2158,ORPHA:2158,14,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002708,Orphanet,2158,ORPHA:2158,14,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002708,Orphanet,2158,ORPHA:2158,14,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002708,Orphanet,2158,ORPHA:2158,14,HP:0002927,Histidinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002708,Orphanet,2158,ORPHA:2158,14,HP:0005819,Short middle phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002708,Orphanet,2158,ORPHA:2158,14,HP:0005844,Rounded middle phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002708,Orphanet,2158,ORPHA:2158,14,HP:0008666,Impaired histidine renal tubular absorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002712,Orphanet,35701,ORPHA:35701,3,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002712,Orphanet,35701,ORPHA:35701,3,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002712,Orphanet,35701,ORPHA:35701,3,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0001871,Abnormality of blood and blood-forming tissues,Occasional (29-5%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0002315,Headache,Occasional (29-5%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0002665,Lymphoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0012735,Cough,Frequent (79-30%),TAS,,,,,y,y +GARD:0002714,Orphanet,98293,ORPHA:98293,21,HP:0100749,Chest pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0000737,Irritability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0001096,Keratoconjunctivitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0001259,Coma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0001992,Organic aciduria,Frequent (79-30%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0007549,Desquamation of skin soon after birth,Occasional (29-5%),TAS,,,,,y,y +GARD:0002721,Orphanet,79242,ORPHA:79242,20,HP:0011127,Perioral eczema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0000078,Abnormality of the genital system,Frequent (79-30%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0000161,Median cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0001360,Holoprosencephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0002818,Abnormality of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0004059,Radial club hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0009914,Cyclopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0010662,Abnormality of the diencephalon,Frequent (79-30%),TAS,,,,,y,y +GARD:0002722,Orphanet,2165,ORPHA:2165,16,HP:0100659,Abnormal cerebral vascular morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0001171,Split hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0002084,Encephalocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0006501,Aplasia/Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0006870,Lobar holoprosencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002725,Orphanet,2117,ORPHA:2117,17,HP:0100335,Non-midline cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0000161,Median cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0000356,Abnormality of the outer ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0000921,Missing ribs,Occasional (29-5%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0001360,Holoprosencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0001829,Foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0002623,Overriding aorta,Occasional (29-5%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0002984,Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0003022,Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0003063,Abnormality of the humerus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0009601,Aplasia/Hypoplasia of the thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0009829,Phocomelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0009914,Cyclopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0009927,Aplasia of the nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0011467,Absent gallbladder,Frequent (79-30%),TAS,,,,,y,y +GARD:0002727,Orphanet,3186,ORPHA:3186,27,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0000262,Turricephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0001161,Hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0001195,Single umbilical artery,Frequent (79-30%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0001562,Oligohydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0002997,Abnormality of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0008678,Renal hypoplasia/aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0010295,Aplasia/Hypoplasia of the tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0010297,Bifid tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0100016,Abnormality of mesentery morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002728,Orphanet,2167,ORPHA:2167,21,HP:0100569,Abnormally ossified vertebrae,Frequent (79-30%),TAS,,,,,y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0000478,Abnormality of the eye,Very rare (<4-1%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0000639,Nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0000725,Psychotic episodes,Frequent (79-30%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001298,Encephalopathy,Very rare (<4-1%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001345,Psychotic mentation,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001727,Thromboembolic stroke,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0001977,Abnormal thrombosis,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002011,Morphological central nervous system abnormality,Very frequent (99-80%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002061,Lower limb spasticity,Very frequent (99-80%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002119,Ventriculomegaly,Very rare (<4-1%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002121,Generalized non-motor (absence) seizure,Very rare (<4-1%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002123,Generalized myoclonic seizure,Very rare (<4-1%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002156,Homocystinuria,Very frequent (99-80%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002160,Hyperhomocystinemia,Very frequent (99-80%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002313,Spastic paraparesis,Frequent (79-30%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002493,Upper motor neuron dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002500,Abnormal cerebral white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002518,Abnormal periventricular white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0002625,Deep venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0003286,Cystathioninemia,Very frequent (99-80%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0003658,Hypomethioninemia,Frequent (79-30%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0006827,Atrophy of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0007340,Lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0008935,Generalized neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0012444,Brain atrophy,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002734,Orphanet,395,ORPHA:395,50,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:26872964, PMID:29246599, PMID:29391032]",y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0000119,Abnormality of the genitourinary system,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0000364,Hearing abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0000378,Cupped ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0001107,Ocular albinism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0001545,Anteriorly placed anus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0001671,Abnormal cardiac septum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0003022,Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0003974,Absent radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0009601,Aplasia/Hypoplasia of the thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0002742,Orphanet,1352,ORPHA:1352,22,HP:0010035,Aplasia of the 1st metacarpal,Frequent (79-30%),TAS,,,,,y,y +GARD:0002748,Orphanet,3265,ORPHA:3265,11,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002748,Orphanet,3265,ORPHA:3265,11,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002748,Orphanet,3265,ORPHA:3265,11,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002748,Orphanet,3265,ORPHA:3265,11,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002748,Orphanet,3265,ORPHA:3265,11,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0002748,Orphanet,3265,ORPHA:3265,11,HP:0003019,Abnormality of the wrist,Occasional (29-5%),TAS,,,,,y,y +GARD:0002748,Orphanet,3265,ORPHA:3265,11,HP:0003042,Elbow dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002748,Orphanet,3265,ORPHA:3265,11,HP:0003070,Elbow ankylosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002748,Orphanet,3265,ORPHA:3265,11,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0002748,Orphanet,3265,ORPHA:3265,11,HP:0008368,Tarsal synostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002748,Orphanet,3265,ORPHA:3265,11,HP:0009601,Aplasia/Hypoplasia of the thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0002749,Orphanet,3266,ORPHA:3266,9,HP:0000069,Abnormality of the ureter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002749,Orphanet,3266,ORPHA:3266,9,HP:0001048,Cavernous hemangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002749,Orphanet,3266,ORPHA:3266,9,HP:0001172,Abnormal thumb morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002749,Orphanet,3266,ORPHA:3266,9,HP:0002974,Radioulnar synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002749,Orphanet,3266,ORPHA:3266,9,HP:0003070,Elbow ankylosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002749,Orphanet,3266,ORPHA:3266,9,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002749,Orphanet,3266,ORPHA:3266,9,HP:0009601,Aplasia/Hypoplasia of the thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002749,Orphanet,3266,ORPHA:3266,9,HP:0010935,Abnormality of the upper urinary tract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002749,Orphanet,3266,ORPHA:3266,9,HP:0100560,Upper limb asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0000107,Renal cyst,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0000138,Ovarian cyst,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0000478,Abnormality of the eye,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0000775,Abnormality of the diaphragm,Occasional (29-5%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0000925,Abnormality of the vertebral column,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0000952,Jaundice,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0001025,Urticaria,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0001407,Hepatic cysts,Very frequent (99-80%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0001732,Abnormality of the pancreas,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0001880,Eosinophilia,Very frequent (99-80%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0002099,Asthma,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0002585,Abnormality of the peritoneum,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0002611,Cholestatic liver disease,Frequent (79-30%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0002904,Hyperbilirubinemia,Occasional (29-5%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0003011,Abnormality of the musculature,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0003155,Elevated circulating alkaline phosphatase concentration,Occasional (29-5%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0005230,Biliary tract obstruction,Occasional (29-5%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0005948,Multiple pulmonary cysts,Occasional (29-5%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0010576,Intracranial cystic lesion,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0011355,Localized skin lesion,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0011458,Abdominal symptom,Occasional (29-5%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0012062,Bone cyst,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0012578,Membranous nephropathy,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0025615,Abscess,Occasional (29-5%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0030423,Splenic cyst,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0030948,Elevated gamma-glutamyltransferase level,Occasional (29-5%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0031630,Abnormal subpleural morphology,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0031700,Invasive parasitic infection,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0031983,Abnormal pulmonary thoracic imaging finding,Occasional (29-5%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0032101,Unusual infection,Occasional (29-5%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0032445,Pulmonary cyst,Occasional (29-5%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0045058,Abnormality of the testis size,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0100592,Peritoneal abscess,Very rare (<4-1%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0100845,Anaphylactic shock,Occasional (29-5%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002764,Orphanet,400,ORPHA:400,41,HP:0410019,Epigastric pain,Frequent (79-30%),TAS,,,,"[PMID:14575976, PMID:26677245]",y,y +GARD:0002765,Orphanet,2898,ORPHA:2898,14,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,[PMID:1433236],y,y +GARD:0002765,Orphanet,2898,ORPHA:2898,14,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:1433236],y,y +GARD:0002765,Orphanet,2898,ORPHA:2898,14,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,[PMID:1433236],y,y +GARD:0002765,Orphanet,2898,ORPHA:2898,14,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,[PMID:1433236],y,y +GARD:0002765,Orphanet,2898,ORPHA:2898,14,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,[PMID:1433236],y,y +GARD:0002765,Orphanet,2898,ORPHA:2898,14,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,[PMID:1433236],y,y +GARD:0002765,Orphanet,2898,ORPHA:2898,14,HP:0001662,Bradycardia,Frequent (79-30%),TAS,,,,[PMID:1433236],y,y +GARD:0002765,Orphanet,2898,ORPHA:2898,14,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:1433236],y,y +GARD:0002765,Orphanet,2898,ORPHA:2898,14,HP:0002506,Diffuse cerebral atrophy,Frequent (79-30%),TAS,,,,[PMID:1433236],y,y +GARD:0002765,Orphanet,2898,ORPHA:2898,14,HP:0005469,Flat occiput,Frequent (79-30%),TAS,,,,[PMID:1433236],y,y +GARD:0002765,Orphanet,2898,ORPHA:2898,14,HP:0007000,Morning myoclonic jerks,Frequent (79-30%),TAS,,,,[PMID:1433236],y,y +GARD:0002765,Orphanet,2898,ORPHA:2898,14,HP:0007281,Developmental stagnation,Frequent (79-30%),TAS,,,,[PMID:1433236],y,y +GARD:0002765,Orphanet,2898,ORPHA:2898,14,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,[PMID:1433236],y,y +GARD:0002765,Orphanet,2898,ORPHA:2898,14,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,[PMID:1433236],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0000027,Azoospermia,Frequent (79-30%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0000238,Hydrocephalus,Obligate (100%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0000470,Short neck,Obligate (100%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0000771,Gynecomastia,Obligate (100%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0000815,Hypergonadotropic hypogonadism,Obligate (100%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Frequent (79-30%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0001256,"Intellectual disability, mild",Obligate (100%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0001513,Obesity,Obligate (100%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0001634,Mitral valve prolapse,Obligate (100%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0002162,Low posterior hairline,Obligate (100%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0002550,Absent facial hair,Frequent (79-30%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0002705,"High, narrow palate",Obligate (100%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0002967,Cubitus valgus,Obligate (100%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0004322,Short stature,Obligate (100%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0007464,Sparse facial hair,Frequent (79-30%),TAS,,,,[PMID:2502012],y,y +GARD:0002775,Orphanet,2183,ORPHA:2183,16,HP:0010044,Short 4th metacarpal,Obligate (100%),TAS,,,,[PMID:2502012],y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0000079,Abnormality of the urinary system,Very rare (<4-1%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0000464,Abnormality of the neck,Frequent (79-30%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0001790,Nonimmune hydrops fetalis,Frequent (79-30%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0001871,Abnormality of blood and blood-forming tissues,Occasional (29-5%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0002652,Skeletal dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0002664,Neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0005268,Miscarriage,Frequent (79-30%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0007430,Generalized edema,Occasional (29-5%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0011024,Abnormality of the gastrointestinal tract,Very rare (<4-1%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0011675,Arrhythmia,Very rare (<4-1%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0030005,Capillary leak,Frequent (79-30%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0031110,Twin-to-twin transfusion,Very rare (<4-1%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0032169,Severe infection,Occasional (29-5%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0032548,Increased placental thickness,Frequent (79-30%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002783,Orphanet,1041,ORPHA:1041,24,HP:0100763,Abnormality of the lymphatic system,Very rare (<4-1%),TAS,,,,"[PMID:29500832, PMID:31512356]",y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0000979,Purpura,Occasional (29-5%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0001025,Urticaria,Frequent (79-30%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0001063,Acrocyanosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0001954,Recurrent fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0002076,Migraine,Frequent (79-30%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0002239,Gastrointestinal hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0002586,Peritonitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0002633,Vasculitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0003261,Increased circulating IgA level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0011107,Recurrent aphthous stomatitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002788,Orphanet,343,ORPHA:343,26,HP:0200034,Papule,Frequent (79-30%),TAS,,,,,y,y +GARD:0002789,Orphanet,404,ORPHA:404,14,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,"[PMID:11073536, PMID:1521363, PMID:20927129, PMID:25667376, PMID:26934393, PMID:27036860, PMID:9745430]",y,y +GARD:0002789,Orphanet,404,ORPHA:404,14,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:11073536, PMID:1521363, PMID:20927129, PMID:25667376, PMID:26934393, PMID:27036860, PMID:9745430]",y,y +GARD:0002789,Orphanet,404,ORPHA:404,14,HP:0000822,Hypertension,Obligate (100%),TAS,,,,"[PMID:11073536, PMID:1521363, PMID:20927129, PMID:25667376, PMID:26934393, PMID:27036860, PMID:9745430]",y,y +GARD:0002789,Orphanet,404,ORPHA:404,14,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:11073536, PMID:1521363, PMID:20927129, PMID:25667376, PMID:26934393, PMID:27036860, PMID:9745430]",y,y +GARD:0002789,Orphanet,404,ORPHA:404,14,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:11073536, PMID:1521363, PMID:20927129, PMID:25667376, PMID:26934393, PMID:27036860, PMID:9745430]",y,y +GARD:0002789,Orphanet,404,ORPHA:404,14,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:11073536, PMID:1521363, PMID:20927129, PMID:25667376, PMID:26934393, PMID:27036860, PMID:9745430]",y,y +GARD:0002789,Orphanet,404,ORPHA:404,14,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:11073536, PMID:1521363, PMID:20927129, PMID:25667376, PMID:26934393, PMID:27036860, PMID:9745430]",y,y +GARD:0002789,Orphanet,404,ORPHA:404,14,HP:0002900,Hypokalemia,Occasional (29-5%),TAS,,,,"[PMID:11073536, PMID:1521363, PMID:20927129, PMID:25667376, PMID:26934393, PMID:27036860, PMID:9745430]",y,y +GARD:0002789,Orphanet,404,ORPHA:404,14,HP:0008221,Adrenal hyperplasia,Occasional (29-5%),TAS,,,,"[PMID:11073536, PMID:1521363, PMID:20927129, PMID:25667376, PMID:26934393, PMID:27036860, PMID:9745430]",y,y +GARD:0002789,Orphanet,404,ORPHA:404,14,HP:0011739,Dexamethasone-suppressible primary hyperaldosteronism,Excluded (0%),TAS,,,,"[PMID:11073536, PMID:1521363, PMID:20927129, PMID:25667376, PMID:26934393, PMID:27036860, PMID:9745430]",y,y +GARD:0002789,Orphanet,404,ORPHA:404,14,HP:0011740,Glucocortocoid-insensitive primary hyperaldosteronism,Very frequent (99-80%),TAS,,,,"[PMID:11073536, PMID:1521363, PMID:20927129, PMID:25667376, PMID:26934393, PMID:27036860, PMID:9745430]",y,y +GARD:0002789,Orphanet,404,ORPHA:404,14,HP:0011746,Secretory adrenocortical adenoma,Frequent (79-30%),TAS,,,,"[PMID:11073536, PMID:1521363, PMID:20927129, PMID:25667376, PMID:26934393, PMID:27036860, PMID:9745430]",y,y +GARD:0002789,Orphanet,404,ORPHA:404,14,HP:0040084,Abnormal circulating renin,Very frequent (99-80%),TAS,,,,"[PMID:11073536, PMID:1521363, PMID:20927129, PMID:25667376, PMID:26934393, PMID:27036860, PMID:9745430]",y,y +GARD:0002789,Orphanet,404,ORPHA:404,14,HP:0200114,Metabolic alkalosis,Occasional (29-5%),TAS,,,,"[PMID:11073536, PMID:1521363, PMID:20927129, PMID:25667376, PMID:26934393, PMID:27036860, PMID:9745430]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0000360,Tinnitus,Occasional (29-5%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0000822,Hypertension,Obligate (100%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0002900,Hypokalemia,Occasional (29-5%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0008221,Adrenal hyperplasia,Very frequent (99-80%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0011410,Caesarian section,Occasional (29-5%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0011739,Dexamethasone-suppressible primary hyperaldosteronism,Obligate (100%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0011746,Secretory adrenocortical adenoma,Occasional (29-5%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0040084,Abnormal circulating renin,Very frequent (99-80%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002790,Orphanet,403,ORPHA:403,15,HP:0100602,Preeclampsia,Occasional (29-5%),TAS,,,,"[PMID:10679515, PMID:11085685, PMID:14667264, PMID:14688810, PMID:26934393, PMID:27036860, PMID:4288576, PMID:7593610, PMID:9360508]",y,y +GARD:0002793,Orphanet,234,ORPHA:234,11,HP:0000952,Jaundice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002793,Orphanet,234,ORPHA:234,11,HP:0001080,Biliary tract abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002793,Orphanet,234,ORPHA:234,11,HP:0001392,Abnormality of the liver,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002793,Orphanet,234,ORPHA:234,11,HP:0001928,Abnormality of coagulation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002793,Orphanet,234,ORPHA:234,11,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0002793,Orphanet,234,ORPHA:234,11,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0002793,Orphanet,234,ORPHA:234,11,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002793,Orphanet,234,ORPHA:234,11,HP:0002908,Conjugated hyperbilirubinemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002793,Orphanet,234,ORPHA:234,11,HP:0004295,Abnormal gastric mucosa morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002793,Orphanet,234,ORPHA:234,11,HP:0012086,Abnormal urinary color,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002793,Orphanet,234,ORPHA:234,11,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0002806,Orphanet,163,ORPHA:163,2,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002806,Orphanet,163,ORPHA:163,2,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002807,Orphanet,408,ORPHA:408,17,HP:0008182,Adrenocortical hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0000389,Chronic otitis media,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0001047,Atopic dermatitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0002090,Pneumonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0002099,Asthma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0002860,Squamous cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0003212,Increased circulating IgE level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0004429,Recurrent viral infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0005401,Recurrent candida infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0005403,T lymphocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0005406,Recurrent bacterial skin infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0006763,Anal canal squamous carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0010976,B lymphocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0011108,Recurrent sinusitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0012203,Onychomycosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0030417,Squamous cell carcinoma of the vulva,Occasional (29-5%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002816,Orphanet,217390,ORPHA:217390,18,HP:0200043,Verrucae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002818,Orphanet,79299,ORPHA:79299,13,HP:0000825,Hyperinsulinemic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:15133749, PMID:17003566, PMID:21967988, PMID:9435328]",y,y +GARD:0002818,Orphanet,79299,ORPHA:79299,13,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:15133749, PMID:17003566, PMID:21967988, PMID:9435328]",y,y +GARD:0002818,Orphanet,79299,ORPHA:79299,13,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:15133749, PMID:17003566, PMID:21967988, PMID:9435328]",y,y +GARD:0002818,Orphanet,79299,ORPHA:79299,13,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15133749, PMID:17003566, PMID:21967988, PMID:9435328]",y,y +GARD:0002818,Orphanet,79299,ORPHA:79299,13,HP:0001985,Hypoketotic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:15133749, PMID:17003566, PMID:21967988, PMID:9435328]",y,y +GARD:0002818,Orphanet,79299,ORPHA:79299,13,HP:0001988,Recurrent hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:15133749, PMID:17003566, PMID:21967988, PMID:9435328]",y,y +GARD:0002818,Orphanet,79299,ORPHA:79299,13,HP:0002270,Abnormality of the autonomic nervous system,Very rare (<4-1%),TAS,,,,"[PMID:15133749, PMID:17003566, PMID:21967988, PMID:9435328]",y,y +GARD:0002818,Orphanet,79299,ORPHA:79299,13,HP:0002378,Hand tremor,Frequent (79-30%),TAS,,,,"[PMID:15133749, PMID:17003566, PMID:21967988, PMID:9435328]",y,y +GARD:0002818,Orphanet,79299,ORPHA:79299,13,HP:0005978,Type II diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:15133749, PMID:17003566, PMID:21967988, PMID:9435328]",y,y +GARD:0002818,Orphanet,79299,ORPHA:79299,13,HP:0008283,Fasting hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:15133749, PMID:17003566, PMID:21967988, PMID:9435328]",y,y +GARD:0002818,Orphanet,79299,ORPHA:79299,13,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:15133749, PMID:17003566, PMID:21967988, PMID:9435328]",y,y +GARD:0002818,Orphanet,79299,ORPHA:79299,13,HP:0012638,Abnormal nervous system physiology,Very rare (<4-1%),TAS,,,,"[PMID:15133749, PMID:17003566, PMID:21967988, PMID:9435328]",y,y +GARD:0002818,Orphanet,79299,ORPHA:79299,13,HP:0030794,Abnormal C-peptide level,Very frequent (99-80%),TAS,,,,"[PMID:15133749, PMID:17003566, PMID:21967988, PMID:9435328]",y,y +GARD:0002824,Orphanet,409,ORPHA:409,7,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002824,Orphanet,409,ORPHA:409,7,HP:0002671,Basal cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002824,Orphanet,409,ORPHA:409,7,HP:0002860,Squamous cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002824,Orphanet,409,ORPHA:409,7,HP:0007570,Hyperkeratosis lenticularis perstans,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002824,Orphanet,409,ORPHA:409,7,HP:0008065,Aplasia/Hypoplasia of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0002824,Orphanet,409,ORPHA:409,7,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002824,Orphanet,409,ORPHA:409,7,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0000972,Palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0001217,Clubbing,Frequent (79-30%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0001220,Interphalangeal joint contracture of finger,Frequent (79-30%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0007447,Diffuse palmoplantar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0007543,Epidermal hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0010765,Palmar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0010829,Impaired temperature sensation,Occasional (29-5%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0010830,Impaired tactile sensation,Occasional (29-5%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0025092,Epidermal acanthosis,Frequent (79-30%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0025114,Hypergranulosis,Occasional (29-5%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002826,Orphanet,2199,ORPHA:2199,15,HP:0032541,Knuckle pad,Frequent (79-30%),TAS,,,,"[PMID:21176769, PMID:31525823]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0000457,Depressed nasal ridge,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0000736,Short attention span,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0001264,Spastic diplegia,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0001285,Spastic tetraparesis,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0001348,Brisk reflexes,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0002161,Hyperlysinemia,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0002179,Opisthotonus,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0002275,Poor motor coordination,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0002312,Clumsiness,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0003131,Cystinuria,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0003268,Argininuria,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0003297,Hyperlysinuria,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0004971,Pulmonary artery hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0006889,"Intellectual disability, borderline",Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0008589,Hypoplastic helices,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0009739,Hypoplasia of the antihelix,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0010850,EEG with spike-wave complexes,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0011171,Simple febrile seizure,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0012379,Abnormal enzyme/coenzyme activity,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0012403,Decreased urine alpha-ketoglutarate concentration,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0025331,Upgaze palsy,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0025356,Psychomotor retardation,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0031867,Neck hypertonia,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0040288,Nasogastric tube feeding,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0045074,Thin eyebrow,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0100022,Abnormality of movement,Occasional (29-5%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0500163,Hypoornithinemia,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0500204,Decreased CSF arginine concentration,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0500208,Increased CSF lysine concentration,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002828,Orphanet,2203,ORPHA:2203,57,HP:0500243,Abnormal CSF ornithine concentration,Frequent (79-30%),TAS,,,,"[PMID:23570448, PMID:23890588]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0000533,Chorioretinal atrophy,Very rare (<4-1%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0001258,Spastic paraplegia,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0001289,Confusion,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0001410,Decreased liver function,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0001950,Respiratory alkalosis,Occasional (29-5%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0001987,Hyperammonemia,Very frequent (99-80%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0002038,Protein avoidance,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0002064,Spastic gait,Occasional (29-5%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0002169,Clonus,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0002370,Poor coordination,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0002495,Impaired vibratory sensation,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0002572,Episodic vomiting,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0002789,Tachypnea,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0003218,Oroticaciduria,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0003256,Abnormality of the coagulation cascade,Occasional (29-5%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0006846,Acute encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0007052,Multifocal cerebral white matter abnormalities,Occasional (29-5%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0011098,Speech apraxia,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0011965,Abnormal circulating citrulline concentration,Very frequent (99-80%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0012026,Hyperornithinemia,Very frequent (99-80%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0012115,Hepatitis,Frequent (79-30%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0040030,Chorioretinal hypopigmentation,Very rare (<4-1%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002830,Orphanet,415,ORPHA:415,40,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:11552031, PMID:18978333, PMID:22642880, PMID:25874378, PMID:3116497, PMID:5782534]",y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0000889,Abnormal clavicle morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0000995,Melanocytic nevus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0002149,Hyperuricemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0004437,Cranial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002831,Orphanet,2801,ORPHA:2801,17,HP:0100670,Coarse metaphyseal trabecularization,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002833,Orphanet,3416,ORPHA:3416,8,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002833,Orphanet,3416,ORPHA:3416,8,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0002833,Orphanet,3416,ORPHA:3416,8,HP:0000889,Abnormal clavicle morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002833,Orphanet,3416,ORPHA:3416,8,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002833,Orphanet,3416,ORPHA:3416,8,HP:0004437,Cranial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002833,Orphanet,3416,ORPHA:3416,8,HP:0005019,Diaphyseal thickening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002833,Orphanet,3416,ORPHA:3416,8,HP:0005789,Generalized osteosclerosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002833,Orphanet,3416,ORPHA:3416,8,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0000121,Nephrocalcinosis,Very frequent (99-80%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0000164,Abnormality of the dentition,Very rare (<4-1%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0000787,Nephrolithiasis,Very frequent (99-80%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0000805,Enuresis,Occasional (29-5%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0001939,Abnormality of metabolism/homeostasis,Very rare (<4-1%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0002621,Atherosclerosis,Very rare (<4-1%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0003159,Hyperoxaluria,Very frequent (99-80%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0003761,Calcinosis,Very frequent (99-80%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0003774,Stage 5 chronic kidney disease,Occasional (29-5%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0011021,Abnormality of circulating enzyme level,Very frequent (99-80%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0012213,Decreased glomerular filtration rate,Frequent (79-30%),TAS,,,,[PMID:20301460],y,y +GARD:0002835,Orphanet,93598,ORPHA:93598,19,HP:0100518,Dysuria,Frequent (79-30%),TAS,,,,[PMID:20301460],y,y +GARD:0002836,Orphanet,93599,ORPHA:93599,6,HP:0000010,Recurrent urinary tract infections,Frequent (79-30%),TAS,,,,[PMID:9243228],y,y +GARD:0002836,Orphanet,93599,ORPHA:93599,6,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,[PMID:9243228],y,y +GARD:0002836,Orphanet,93599,ORPHA:93599,6,HP:0000121,Nephrocalcinosis,Very frequent (99-80%),TAS,,,,[PMID:9243228],y,y +GARD:0002836,Orphanet,93599,ORPHA:93599,6,HP:0000787,Nephrolithiasis,Very frequent (99-80%),TAS,,,,[PMID:9243228],y,y +GARD:0002836,Orphanet,93599,ORPHA:93599,6,HP:0003159,Hyperoxaluria,Very frequent (99-80%),TAS,,,,[PMID:9243228],y,y +GARD:0002836,Orphanet,93599,ORPHA:93599,6,HP:0006000,Ureteral obstruction,Frequent (79-30%),TAS,,,,[PMID:9243228],y,y +GARD:0002838,Orphanet,417,ORPHA:417,10,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002838,Orphanet,417,ORPHA:417,10,HP:0000820,Abnormality of the thyroid gland,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002838,Orphanet,417,ORPHA:417,10,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002838,Orphanet,417,ORPHA:417,10,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002838,Orphanet,417,ORPHA:417,10,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002838,Orphanet,417,ORPHA:417,10,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002838,Orphanet,417,ORPHA:417,10,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002838,Orphanet,417,ORPHA:417,10,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002838,Orphanet,417,ORPHA:417,10,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002838,Orphanet,417,ORPHA:417,10,HP:0100530,Abnormal calcium-phosphate regulating hormone level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002843,Orphanet,1578,ORPHA:1578,13,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:19234759, PMID:21867484, PMID:32456656]",y,y +GARD:0002843,Orphanet,1578,ORPHA:1578,13,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:19234759, PMID:21867484, PMID:32456656]",y,y +GARD:0002843,Orphanet,1578,ORPHA:1578,13,HP:0001300,Parkinsonism,Very rare (<4-1%),TAS,,,,"[PMID:19234759, PMID:21867484, PMID:32456656]",y,y +GARD:0002843,Orphanet,1578,ORPHA:1578,13,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:19234759, PMID:21867484, PMID:32456656]",y,y +GARD:0002843,Orphanet,1578,ORPHA:1578,13,HP:0002917,Hypomagnesemia,Occasional (29-5%),TAS,,,,"[PMID:19234759, PMID:21867484, PMID:32456656]",y,y +GARD:0002843,Orphanet,1578,ORPHA:1578,13,HP:0004904,Maturity-onset diabetes of the young,Very rare (<4-1%),TAS,,,,"[PMID:19234759, PMID:21867484, PMID:32456656]",y,y +GARD:0002843,Orphanet,1578,ORPHA:1578,13,HP:0004923,Hyperphenylalaninemia,Very frequent (99-80%),TAS,,,,"[PMID:19234759, PMID:21867484, PMID:32456656]",y,y +GARD:0002843,Orphanet,1578,ORPHA:1578,13,HP:0008936,Axial hypotonia,Occasional (29-5%),TAS,,,,"[PMID:19234759, PMID:21867484, PMID:32456656]",y,y +GARD:0002843,Orphanet,1578,ORPHA:1578,13,HP:0010553,Oculogyric crisis,Frequent (79-30%),TAS,,,,"[PMID:19234759, PMID:21867484, PMID:32456656]",y,y +GARD:0002843,Orphanet,1578,ORPHA:1578,13,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:19234759, PMID:21867484, PMID:32456656]",y,y +GARD:0002843,Orphanet,1578,ORPHA:1578,13,HP:0040206,Abnormal circulating neopterin concentration,Frequent (79-30%),TAS,,,,"[PMID:19234759, PMID:21867484, PMID:32456656]",y,y +GARD:0002843,Orphanet,1578,ORPHA:1578,13,HP:0040210,Abnormal circulating biopterin concentration,Very frequent (99-80%),TAS,,,,"[PMID:19234759, PMID:21867484, PMID:32456656]",y,y +GARD:0002843,Orphanet,1578,ORPHA:1578,13,HP:0100021,Cerebral palsy,Very rare (<4-1%),TAS,,,,"[PMID:19234759, PMID:21867484, PMID:32456656]",y,y +GARD:0002847,Orphanet,419,ORPHA:419,6,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0002847,Orphanet,419,ORPHA:419,6,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002847,Orphanet,419,ORPHA:419,6,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0002847,Orphanet,419,ORPHA:419,6,HP:0003137,Prolinuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0002847,Orphanet,419,ORPHA:419,6,HP:0008358,Hyperprolinemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002847,Orphanet,419,ORPHA:419,6,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0002269,Abnormality of neuronal migration,Frequent (79-30%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0008056,Aplasia/Hypoplasia affecting the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0002856,Orphanet,2216,ORPHA:2216,16,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0000520,Proptosis,Very rare (<4-1%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0000713,Agitation,Frequent (79-30%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0000836,Hyperthyroidism,Obligate (100%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0000853,Goiter,Very frequent (99-80%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0002378,Hand tremor,Very frequent (99-80%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0008249,Thyroid hyperplasia,Very frequent (99-80%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0011784,Thyrotoxicosis with diffuse goiter,Very frequent (99-80%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0011790,Activating thyroid-stimulating hormone receptor defect,Obligate (100%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0012372,Abnormal eye morphology,Excluded (0%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002858,Orphanet,424,ORPHA:424,18,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:24947036, PMID:26580241, PMID:7124278, PMID:7800007, PMID:8964822, PMID:9267761, PMID:9854118]",y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0000206,Glossitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0000492,Abnormal eyelid morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0000534,Abnormal eyebrow morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0002664,Neoplasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0100013,Neoplasm of the breast,Occasional (29-5%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0100606,Neoplasm of the respiratory system,Occasional (29-5%),TAS,,,,,y,y +GARD:0002864,Orphanet,2221,ORPHA:2221,18,HP:0100615,Ovarian neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0002865,Orphanet,2222,ORPHA:2222,7,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002865,Orphanet,2222,ORPHA:2222,7,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,,y,y +GARD:0002865,Orphanet,2222,ORPHA:2222,7,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002865,Orphanet,2222,ORPHA:2222,7,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002865,Orphanet,2222,ORPHA:2222,7,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002865,Orphanet,2222,ORPHA:2222,7,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002865,Orphanet,2222,ORPHA:2222,7,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002872,Orphanet,425,ORPHA:425,9,HP:0000622,Blurred vision,Frequent (79-30%),TAS,,,,"[PMID:28178939, PMID:31003938, PMID:32022753]",y,y +GARD:0002872,Orphanet,425,ORPHA:425,9,HP:0000991,Xanthomatosis,Frequent (79-30%),TAS,,,,"[PMID:28178939, PMID:31003938, PMID:32022753]",y,y +GARD:0002872,Orphanet,425,ORPHA:425,9,HP:0001114,Xanthelasma,Frequent (79-30%),TAS,,,,"[PMID:28178939, PMID:31003938, PMID:32022753]",y,y +GARD:0002872,Orphanet,425,ORPHA:425,9,HP:0001681,Angina pectoris,Frequent (79-30%),TAS,,,,"[PMID:28178939, PMID:31003938, PMID:32022753]",y,y +GARD:0002872,Orphanet,425,ORPHA:425,9,HP:0002621,Atherosclerosis,Very frequent (99-80%),TAS,,,,"[PMID:28178939, PMID:31003938, PMID:32022753]",y,y +GARD:0002872,Orphanet,425,ORPHA:425,9,HP:0003119,Abnormal circulating lipid concentration,Very frequent (99-80%),TAS,,,,"[PMID:28178939, PMID:31003938, PMID:32022753]",y,y +GARD:0002872,Orphanet,425,ORPHA:425,9,HP:0003233,Decreased HDL cholesterol concentration,Very frequent (99-80%),TAS,,,,"[PMID:28178939, PMID:31003938, PMID:32022753]",y,y +GARD:0002872,Orphanet,425,ORPHA:425,9,HP:0005181,Premature coronary artery atherosclerosis,Frequent (79-30%),TAS,,,,"[PMID:28178939, PMID:31003938, PMID:32022753]",y,y +GARD:0002872,Orphanet,425,ORPHA:425,9,HP:0007759,Opacification of the corneal stroma,Very frequent (99-80%),TAS,,,,"[PMID:28178939, PMID:31003938, PMID:32022753]",y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0000121,Nephrocalcinosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0000712,Emotional lability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0000716,Depression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0000739,Anxiety,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0002150,Hypercalciuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0002356,Writer's cramp,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0002516,Increased intracranial pressure,Occasional (29-5%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0002793,Abnormal pattern of respiration,Frequent (79-30%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0002905,Hyperphosphatemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0002917,Hypomagnesemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0003473,Fatigable weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0004372,Reduced consciousness/confusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0007400,Irregular hyperpigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0012608,Hypermagnesiuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0002877,Orphanet,428,ORPHA:428,30,HP:0040148,Cortical myoclonus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0000474,Thickened nuchal skin fold,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0000476,Cystic hygroma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0001789,Hydrops fetalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0003336,Abnormal enchondral ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0004348,Abnormality of bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002882,Orphanet,932,ORPHA:932,23,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002887,Orphanet,101041,ORPHA:101041,4,HP:0000225,Gingival bleeding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002887,Orphanet,101041,ORPHA:101041,4,HP:0000421,Epistaxis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002887,Orphanet,101041,ORPHA:101041,4,HP:0001892,Abnormal bleeding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002887,Orphanet,101041,ORPHA:101041,4,HP:0002239,Gastrointestinal hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002905,Orphanet,154,ORPHA:154,8,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0002905,Orphanet,154,ORPHA:154,8,HP:0000982,Palmoplantar keratoderma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002905,Orphanet,154,ORPHA:154,8,HP:0001644,Dilated cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002905,Orphanet,154,ORPHA:154,8,HP:0001874,Abnormality of neutrophils,Occasional (29-5%),TAS,,,,,y,y +GARD:0002905,Orphanet,154,ORPHA:154,8,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0002905,Orphanet,154,ORPHA:154,8,HP:0003236,Elevated circulating creatine kinase concentration,Occasional (29-5%),TAS,,,,,y,y +GARD:0002905,Orphanet,154,ORPHA:154,8,HP:0003457,EMG abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0002905,Orphanet,154,ORPHA:154,8,HP:0100578,Lipoatrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0000008,Abnormal morphology of female internal genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0000243,Trigonocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0000452,Choanal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0000588,Optic disc coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0002777,Tracheal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0005439,Maxillozygomatic hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0005607,Abnormal tracheobronchial morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0008749,Laryngeal hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0010295,Aplasia/Hypoplasia of the tongue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002907,Orphanet,1790,ORPHA:1790,27,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002908,Orphanet,2491,ORPHA:2491,14,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002908,Orphanet,2491,ORPHA:2491,14,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002908,Orphanet,2491,ORPHA:2491,14,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002908,Orphanet,2491,ORPHA:2491,14,HP:0001162,Postaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002908,Orphanet,2491,ORPHA:2491,14,HP:0001171,Split hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0002908,Orphanet,2491,ORPHA:2491,14,HP:0002983,Micromelia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002908,Orphanet,2491,ORPHA:2491,14,HP:0003019,Abnormality of the wrist,Frequent (79-30%),TAS,,,,,y,y +GARD:0002908,Orphanet,2491,ORPHA:2491,14,HP:0003762,Uterus didelphys,Frequent (79-30%),TAS,,,,,y,y +GARD:0002908,Orphanet,2491,ORPHA:2491,14,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0002908,Orphanet,2491,ORPHA:2491,14,HP:0005792,Short humerus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002908,Orphanet,2491,ORPHA:2491,14,HP:0006495,Aplasia/Hypoplasia of the ulna,Frequent (79-30%),TAS,,,,,y,y +GARD:0002908,Orphanet,2491,ORPHA:2491,14,HP:0007477,Abnormal dermatoglyphics,Frequent (79-30%),TAS,,,,,y,y +GARD:0002908,Orphanet,2491,ORPHA:2491,14,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002908,Orphanet,2491,ORPHA:2491,14,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,,y,y +GARD:0002910,Orphanet,2238,ORPHA:2238,12,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002910,Orphanet,2238,ORPHA:2238,12,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0002910,Orphanet,2238,ORPHA:2238,12,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002910,Orphanet,2238,ORPHA:2238,12,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002910,Orphanet,2238,ORPHA:2238,12,HP:0000829,Hypoparathyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002910,Orphanet,2238,ORPHA:2238,12,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002910,Orphanet,2238,ORPHA:2238,12,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,,y,y +GARD:0002910,Orphanet,2238,ORPHA:2238,12,HP:0002901,Hypocalcemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002910,Orphanet,2238,ORPHA:2238,12,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002910,Orphanet,2238,ORPHA:2238,12,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002910,Orphanet,2238,ORPHA:2238,12,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002910,Orphanet,2238,ORPHA:2238,12,HP:0100530,Abnormal calcium-phosphate regulating hormone level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0000110,Renal dysplasia,Obligate (100%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0000113,Polycystic kidney dysplasia,Frequent (79-30%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0000122,Unilateral renal agenesis,Frequent (79-30%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0000148,Vaginal atresia,Very rare (<4-1%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0000151,Aplasia of the uterus,Very rare (<4-1%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0000175,Cleft palate,Very rare (<4-1%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0000408,Progressive sensorineural hearing impairment,Obligate (100%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0000510,Rod-cone dystrophy,Very rare (<4-1%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0000829,Hypoparathyroidism,Obligate (100%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0000860,Parathyroid hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0001153,Septate vagina,Occasional (29-5%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0001627,Abnormal heart morphology,Very rare (<4-1%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0002199,Hypocalcemic seizures,Frequent (79-30%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0002901,Hypocalcemia,Frequent (79-30%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0003762,Uterus didelphys,Occasional (29-5%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0003765,Psoriasiform dermatitis,Very rare (<4-1%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0008850,Severe postnatal growth retardation,Very rare (<4-1%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002911,Orphanet,2237,ORPHA:2237,22,HP:0011840,Abnormality of T cell physiology,Very rare (<4-1%),TAS,,,,"[PMID:1522843, PMID:19659764, PMID:874665]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0000132,Menorrhagia,Occasional (29-5%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0000421,Epistaxis,Frequent (79-30%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0002170,Intracranial hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0002907,Microscopic hematuria,Occasional (29-5%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0003645,Prolonged partial thromboplastin time,Very frequent (99-80%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0004420,Arterial thrombosis,Excluded (0%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0004936,Venous thrombosis,Excluded (0%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0005261,Joint hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0006298,Prolonged bleeding after dental extraction,Occasional (29-5%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0008151,Prolonged prothrombin time,Very frequent (99-80%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0011884,Abnormal umbilical stump bleeding,Occasional (29-5%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0011890,Prolonged bleeding following procedure,Occasional (29-5%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0011891,Post-partum hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0012233,Intramuscular hematoma,Occasional (29-5%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0012541,Cephalohematoma,Occasional (29-5%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0030137,Prolonged bleeding following circumcision,Occasional (29-5%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0030138,Excessive bleeding from superficial cuts,Occasional (29-5%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0030140,Oral cavity bleeding,Occasional (29-5%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002926,Orphanet,325,ORPHA:325,21,HP:0040250,Reduced prothrombin antigen,Very frequent (99-80%),TAS,,,,"[PMID:14489469, PMID:19412729, PMID:23190616, PMID:28222949, PMID:28762299, PMID:7740448]",y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0000243,Trigonocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0008388,Abnormal toenail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002928,Orphanet,2261,ORPHA:2261,15,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0001334,Communicating hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0001874,Abnormality of neutrophils,Frequent (79-30%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0003220,Abnormality of chromosome stability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0005374,Cellular immunodeficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0010808,Protruding tongue,Occasional (29-5%),TAS,,,,,y,y +GARD:0002945,Orphanet,2268,ORPHA:2268,23,HP:0012368,Flat face,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000072,Hydroureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000491,Keratitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000492,Abnormal eyelid morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000498,Blepharitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000499,Abnormal eyelash morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000614,Abnormal nasolacrimal system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000925,Abnormality of the vertebral column,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001025,Urticaria,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001331,Absent septum pellucidum,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001804,Hypoplastic fingernail,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0001812,Hyperconvex fingernails,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0002046,Heat intolerance,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0002223,Absent eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0002718,Recurrent bacterial infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0003510,Severe short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0004370,Abnormality of temperature regulation,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0010935,Abnormality of the upper urinary tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0012157,Subcortical cerebral atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0012165,Oligodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0012742,Thin fingernail,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0040163,Abnormal pelvis bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0045074,Thin eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0100257,Ectrodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0100308,Cerebral cortical hemiatrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0100532,Scleritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0100534,Episcleritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0100825,Cheilitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0200020,Corneal erosion,Frequent (79-30%),TAS,,,,,y,y +GARD:0002952,Orphanet,2273,ORPHA:2273,78,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002954,Orphanet,79503,ORPHA:79503,8,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002954,Orphanet,79503,ORPHA:79503,8,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0002954,Orphanet,79503,ORPHA:79503,8,HP:0001581,Recurrent skin infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002954,Orphanet,79503,ORPHA:79503,8,HP:0007447,Diffuse palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002954,Orphanet,79503,ORPHA:79503,8,HP:0007460,Autoamputation of digits,Occasional (29-5%),TAS,,,,,y,y +GARD:0002954,Orphanet,79503,ORPHA:79503,8,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002954,Orphanet,79503,ORPHA:79503,8,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0002954,Orphanet,79503,ORPHA:79503,8,HP:0011889,Bleeding with minor or no trauma,Occasional (29-5%),TAS,,,,,y,y +GARD:0002966,Orphanet,455,ORPHA:455,7,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002966,Orphanet,455,ORPHA:455,7,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002966,Orphanet,455,ORPHA:455,7,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002966,Orphanet,455,ORPHA:455,7,HP:0008064,Ichthyosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002966,Orphanet,455,ORPHA:455,7,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002966,Orphanet,455,ORPHA:455,7,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,,y,y +GARD:0002966,Orphanet,455,ORPHA:455,7,HP:0100792,Acantholysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0001732,Abnormality of the pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0001888,Lymphopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0003085,Long fibula,Occasional (29-5%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0004430,Severe combined immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0004432,Agammaglobulinemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0005374,Cellular immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0011364,White hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0002988,Orphanet,935,ORPHA:935,18,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0000153,Abnormality of the mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0000159,Abnormal lip morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0000288,Abnormality of the philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0000453,Choanal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0000600,Abnormality of the pharynx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0000921,Missing ribs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0002878,Respiratory failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0002937,Hemivertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0009896,Abnormal antitragus morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0010295,Aplasia/Hypoplasia of the tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0002989,Orphanet,2759,ORPHA:2759,27,HP:0011302,Long palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0000169,Gingival fibromatosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0000271,Abnormality of the face,Frequent (79-30%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0000929,Abnormal skull morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0000934,Chondrocalcinosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0001595,Abnormal hair morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0002242,Abnormal intestine morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0002894,Neoplasm of the pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0003011,Abnormality of the musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0005107,Abnormal sacrum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0007400,Irregular hyperpigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0008069,Neoplasm of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0010614,Fibroma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0012062,Bone cyst,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0100242,Sarcoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0100526,Neoplasm of the lung,Frequent (79-30%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0100835,Benign neoplasm of the central nervous system,Occasional (29-5%),TAS,,,,,y,y +GARD:0002998,Orphanet,2591,ORPHA:2591,28,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0000235,Abnormality of the fontanelles or cranial sutures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0000543,Optic disc pallor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0001639,Hypertrophic cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003002,Orphanet,3173,ORPHA:3173,15,HP:0100672,Vaginal hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0000559,Corneal scarring,Very rare (<4-1%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0000742,Self-mutilation,Very frequent (99-80%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0000970,Anhidrosis,Very frequent (99-80%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0000975,Hyperhidrosis,Very rare (<4-1%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0000978,Bruising susceptibility,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0000987,Atypical scarring of skin,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0001954,Recurrent fever,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0001955,Unexplained fevers,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0002045,Hypothermia,Very rare (<4-1%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0002100,Recurrent aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0002270,Abnormality of the autonomic nervous system,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0002661,Painless fractures due to injury,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0002726,Recurrent Staphylococcus aureus infections,Very frequent (99-80%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0002754,Osteomyelitis,Very frequent (99-80%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0002821,Neuropathic arthropathy,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0002936,Distal sensory impairment,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0003028,Abnormality of the ankles,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0003091,Trophic limb changes,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0003095,Septic arthritis,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0003134,Abnormality of peripheral nerve conduction,Very frequent (99-80%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0003272,Abnormal hip bone morphology,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0004926,Orthostatic hypotension due to autonomic dysfunction,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0005368,Abnormality of humoral immunity,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0006480,Premature loss of teeth,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0007021,Pain insensitivity,Very frequent (99-80%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0008000,Decreased corneal reflex,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0009085,Alveolar ridge overgrowth,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0010829,Impaired temperature sensation,Very frequent (99-80%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0010885,Avascular necrosis,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0011136,Aplasia of the sweat glands,Very frequent (99-80%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0012170,Nail-biting,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0012622,Chronic kidney disease,Very rare (<4-1%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0012804,Corneal ulceration,Very rare (<4-1%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0025615,Abscess,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0030757,Tooth abscess,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0030811,Tongue pain,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0100491,Abnormality of lower limb joint,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0100537,Fasciitis,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0100712,Abnormal lumbar spine morphology,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0100725,Lichenification,Frequent (79-30%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0100851,Abnormal emotion/affect behavior,Occasional (29-5%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003006,Orphanet,642,ORPHA:642,56,HP:0100963,Hyperesthesia,Very rare (<4-1%),TAS,,,,"[PMID:25359976, PMID:25744033, PMID:29419974]",y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000457,Depressed nasal ridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0000929,Abnormal skull morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001305,Dandy-Walker malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001541,Ascites,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001659,Aortic regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0001682,Subvalvular aortic stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0002247,Duodenal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0002667,Nephroblastoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0002817,Abnormality of the upper limb,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0002859,Rhabdomyosarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0002863,Myelodysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0003003,Colon cancer,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0003560,Muscular dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0006721,Acute lymphoblastic leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0007565,Multiple cafe-au-lait spots,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0010880,Increased nuchal translucency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0010978,Abnormality of immune system physiology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0012126,Stomach cancer,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0100650,Vaginal neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0003007,Orphanet,1052,ORPHA:1052,64,HP:0200008,Intestinal polyposis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003008,Orphanet,2297,ORPHA:2297,7,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003008,Orphanet,2297,ORPHA:2297,7,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003008,Orphanet,2297,ORPHA:2297,7,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003008,Orphanet,2297,ORPHA:2297,7,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003008,Orphanet,2297,ORPHA:2297,7,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003008,Orphanet,2297,ORPHA:2297,7,HP:0005978,Type II diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003008,Orphanet,2297,ORPHA:2297,7,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0000123,Nephritis,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0000147,Polycystic ovaries,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0000825,Hyperinsulinemic hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0000831,Insulin-resistant diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0000956,Acanthosis nigricans,Very frequent (99-80%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0001946,Ketosis,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0001952,Glucose intolerance,Very frequent (99-80%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0001953,Diabetic ketoacidosis,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0002613,Biliary cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0002725,Systemic lupus erythematosus,Very frequent (99-80%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0003073,Hypoalbuminemia,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0003074,Hyperglycemia,Very frequent (99-80%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0003076,Glycosuria,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0003119,Abnormal circulating lipid concentration,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0003162,Fasting hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0003237,Increased circulating IgG level,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0003261,Increased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0003493,Antinuclear antibody positivity,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0003565,Elevated erythrocyte sedimentation rate,Very frequent (99-80%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0004323,Abnormality of body weight,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0004324,Increased body weight,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0004359,Abnormal circulating fatty-acid concentration,Very frequent (99-80%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0004361,Abnormality of circulating leptin level,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0004924,Abnormal oral glucose tolerance,Very frequent (99-80%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0005416,Decreased serum complement factor B,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0005978,Type II diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0006775,Multiple myeloma,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0008283,Fasting hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0008675,Enlarged polycystic ovaries,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0010286,Abnormal salivary gland morphology,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0011998,Postprandial hyperglycemia,Very frequent (99-80%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0012153,Hypotriglyceridemia,Very frequent (99-80%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0012189,Hodgkin lymphoma,Occasional (29-5%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0030088,Increased serum testosterone level,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003009,Orphanet,2298,ORPHA:2298,50,HP:0100879,Enlarged ovaries,Frequent (79-30%),TAS,,,,"[PMID:10487687, PMID:11889410, PMID:176581, PMID:18026162, PMID:18218307, PMID:2026751, PMID:21387198, PMID:23053690, PMID:23346003, PMID:25390580, PMID:25864863, PMID:2880067, PMID:7010176, PMID:7133100, PMID:9245240]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0000364,Hearing abnormality,Occasional (29-5%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0000825,Hyperinsulinemic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0001337,Tremor,Very frequent (99-80%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0001958,Nonketotic hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0001962,Palpitations,Very frequent (99-80%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0001988,Recurrent hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0002044,Zollinger-Ellison syndrome,Frequent (79-30%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0002494,Abnormal rapid eye movement sleep,Occasional (29-5%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0002591,Polyphagia,Frequent (79-30%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0004324,Increased body weight,Frequent (79-30%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0004372,Reduced consciousness/confusion,Frequent (79-30%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0006476,Abnormality of the pancreatic islet cells,Very frequent (99-80%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0006767,Pituitary prolactin cell adenoma,Frequent (79-30%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0007159,Fluctuations in consciousness,Frequent (79-30%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0008200,Primary hyperparathyroidism,Frequent (79-30%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0008283,Fasting hyperinsulinemia,Very frequent (99-80%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0010534,Transient global amnesia,Very frequent (99-80%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0010832,Abnormality of pain sensation,Occasional (29-5%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0011446,Abnormality of higher mental function,Occasional (29-5%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0012051,Reactive hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0100631,Neoplasm of the adrenal gland,Occasional (29-5%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0100634,Neuroendocrine neoplasm,Occasional (29-5%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003010,Orphanet,97279,ORPHA:97279,34,HP:0100785,Insomnia,Occasional (29-5%),TAS,,,,"[PMID:10190379, PMID:1677058, PMID:19141587, PMID:23094726, PMID:25594862, PMID:26107678]",y,y +GARD:0003012,Orphanet,981,ORPHA:981,5,HP:0002138,Subarachnoid hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:12601459, PMID:27332518]",y,y +GARD:0003012,Orphanet,981,ORPHA:981,5,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:12601459, PMID:27332518]",y,y +GARD:0003012,Orphanet,981,ORPHA:981,5,HP:0002637,Cerebral ischemia,Frequent (79-30%),TAS,,,,"[PMID:12601459, PMID:27332518]",y,y +GARD:0003012,Orphanet,981,ORPHA:981,5,HP:0004944,Dilatation of the cerebral artery,Frequent (79-30%),TAS,,,,"[PMID:12601459, PMID:27332518]",y,y +GARD:0003012,Orphanet,981,ORPHA:981,5,HP:0100702,Arachnoid cyst,Occasional (29-5%),TAS,,,,"[PMID:12601459, PMID:27332518]",y,y +GARD:0003013,Orphanet,2300,ORPHA:2300,3,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0003013,Orphanet,2300,ORPHA:2300,3,HP:0002589,Gastrointestinal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003013,Orphanet,2300,ORPHA:2300,3,HP:0100867,Duodenal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003020,Orphanet,46724,ORPHA:46724,3,HP:0100659,Abnormal cerebral vascular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003020,Orphanet,46724,ORPHA:46724,3,HP:0100761,Visceral angiomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003020,Orphanet,46724,ORPHA:46724,3,HP:0100784,Peripheral arteriovenous fistula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003030,Orphanet,1509,ORPHA:1509,5,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003030,Orphanet,1509,ORPHA:1509,5,HP:0002644,Abnormality of pelvic girdle bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003030,Orphanet,1509,ORPHA:1509,5,HP:0002815,Abnormality of the knee,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003030,Orphanet,1509,ORPHA:1509,5,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003030,Orphanet,1509,ORPHA:1509,5,HP:0006498,Aplasia/Hypoplasia of the patella,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0000768,Pectus carinatum,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0000914,Shield chest,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0000925,Abnormality of the vertebral column,Very frequent (99-80%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0001248,Short tubular bones of the hand,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0001498,Carpal bone hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0002663,Delayed epiphyseal ossification,Very frequent (99-80%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0002812,Coxa vara,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0002867,Abnormal ilium morphology,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0002869,Flared iliac wing,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0002942,Thoracic kyphosis,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0002986,Radial bowing,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0003016,Metaphyseal widening,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0003059,Abnormality of the radioulnar joints,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0003088,Premature osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0003121,Limb joint contracture,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0003170,Abnormal acetabulum morphology,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0003177,Squared iliac bones,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0003180,Flat acetabular roof,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0003185,Short greater sciatic notch,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0003311,Hypoplasia of the odontoid process,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0003336,Abnormal enchondral ossification,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0003417,Coronal cleft vertebrae,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0003521,Disproportionate short-trunk short stature,Very frequent (99-80%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0003907,Abnormality of the humeral metaphyses,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0004558,Cervical platyspondyly,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0005819,Short middle phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0008422,Vertebral wedging,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0010228,Absent epiphyses of the phalanges of the hand,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0010743,Short metatarsal,Frequent (79-30%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0030289,Flattened femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0030320,Increased intervertebral space,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003047,Orphanet,93314,ORPHA:93314,45,HP:0100864,Short femoral neck,Occasional (29-5%),TAS,,,,"[PMID:24830047, PMID:28687525, PMID:33774370]",y,y +GARD:0003048,Orphanet,90647,ORPHA:90647,11,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:20301308, PMID:30406014, PMID:30725985]",y,y +GARD:0003048,Orphanet,90647,ORPHA:90647,11,HP:0001279,Syncope,Frequent (79-30%),TAS,,,,"[PMID:20301308, PMID:30406014, PMID:30725985]",y,y +GARD:0003048,Orphanet,90647,ORPHA:90647,11,HP:0001663,Ventricular fibrillation,Occasional (29-5%),TAS,,,,"[PMID:20301308, PMID:30406014, PMID:30725985]",y,y +GARD:0003048,Orphanet,90647,ORPHA:90647,11,HP:0001664,Torsade de pointes,Frequent (79-30%),TAS,,,,"[PMID:20301308, PMID:30406014, PMID:30725985]",y,y +GARD:0003048,Orphanet,90647,ORPHA:90647,11,HP:0001891,Iron deficiency anemia,Occasional (29-5%),TAS,,,,"[PMID:20301308, PMID:30406014, PMID:30725985]",y,y +GARD:0003048,Orphanet,90647,ORPHA:90647,11,HP:0005184,Prolonged QTc interval,Very frequent (99-80%),TAS,,,,"[PMID:20301308, PMID:30406014, PMID:30725985]",y,y +GARD:0003048,Orphanet,90647,ORPHA:90647,11,HP:0007185,Loss of consciousness,Frequent (79-30%),TAS,,,,"[PMID:20301308, PMID:30406014, PMID:30725985]",y,y +GARD:0003048,Orphanet,90647,ORPHA:90647,11,HP:0008619,Bilateral sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301308, PMID:30406014, PMID:30725985]",y,y +GARD:0003048,Orphanet,90647,ORPHA:90647,11,HP:0011476,Profound sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:20301308, PMID:30406014, PMID:30725985]",y,y +GARD:0003048,Orphanet,90647,ORPHA:90647,11,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,"[PMID:20301308, PMID:30406014, PMID:30725985]",y,y +GARD:0003048,Orphanet,90647,ORPHA:90647,11,HP:0030973,Postexertional malaise,Frequent (79-30%),TAS,,,,"[PMID:20301308, PMID:30406014, PMID:30725985]",y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0000090,Nephronophthisis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0000766,Abnormal sternum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0000889,Abnormal clavicle morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0000944,Abnormality of the metaphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0001162,Postaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0001830,Postaxial foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0006703,Aplasia/Hypoplasia of the lungs,Occasional (29-5%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003049,Orphanet,474,ORPHA:474,24,HP:0010579,Cone-shaped epiphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0000055,Abnormality of female external genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0001555,Asymmetry of the thorax,Frequent (79-30%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0001798,Anonychia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0001839,Split foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0002644,Abnormality of pelvic girdle bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0002937,Hemivertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0003042,Elbow dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0004320,Vaginal fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0009767,Aplasia/Hypoplasia of the phalanges of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0010173,Aplasia/Hypoplasia of the phalanges of the toes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003051,Orphanet,1112,ORPHA:1112,18,HP:0012621,Persistent cloaca,Frequent (79-30%),TAS,,,,,y,y +GARD:0003054,Orphanet,2295,ORPHA:2295,8,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003054,Orphanet,2295,ORPHA:2295,8,HP:0001374,Congenital hip dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003054,Orphanet,2295,ORPHA:2295,8,HP:0002815,Abnormality of the knee,Frequent (79-30%),TAS,,,,,y,y +GARD:0003054,Orphanet,2295,ORPHA:2295,8,HP:0002823,Abnormality of femur morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003054,Orphanet,2295,ORPHA:2295,8,HP:0002999,Patellar dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003054,Orphanet,2295,ORPHA:2295,8,HP:0003834,Shoulder dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003054,Orphanet,2295,ORPHA:2295,8,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003054,Orphanet,2295,ORPHA:2295,8,HP:0009811,Abnormality of the elbow,Occasional (29-5%),TAS,,,,,y,y +GARD:0003056,Orphanet,2027,ORPHA:2027,4,HP:0000169,Gingival fibromatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003056,Orphanet,2027,ORPHA:2027,4,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003056,Orphanet,2027,ORPHA:2027,4,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003056,Orphanet,2027,ORPHA:2027,4,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0000085,Horseshoe kidney,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0000534,Abnormal eyebrow morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0001545,Anteriorly placed anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0001765,Hammertoe,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0002984,Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0003019,Abnormality of the wrist,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0003468,Abnormal vertebral morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0009778,Short thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0003060,Orphanet,2319,ORPHA:2319,26,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0000078,Abnormality of the genital system,Frequent (79-30%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0000929,Abnormal skull morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0002777,Tracheal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003062,Orphanet,2321,ORPHA:2321,17,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0000160,Narrow mouth,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0000316,Hypertelorism,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0000331,Short chin,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0000369,Low-set ears,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0000421,Epistaxis,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0000494,Downslanted palpebral fissures,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0000969,Edema,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0001012,Multiple lipomas,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0002003,Large forehead,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0002092,Pulmonary arterial hypertension,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0002243,Protein-losing enteropathy,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0002326,Transient ischemic attack,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0002408,Cerebral arteriovenous malformation,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0002573,Hematochezia,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0002576,Intussusception,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0002894,Neoplasm of the pancreas,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0003003,Colon cancer,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0003075,Hypoproteinemia,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0004390,Hamartomatous polyposis,Frequent (79-30%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0004406,"Spontaneous, recurrent epistaxis",Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0004784,Juvenile gastrointestinal polyposis,Obligate (100%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0004795,Hamartomatous stomach polyps,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0004941,Extrahepatic portal hypertension,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0005266,Intestinal polyp,Very frequent (99-80%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0005280,Depressed nasal bridge,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0006548,Pulmonary arteriovenous malformation,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0006574,Hepatic arteriovenous malformation,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0007378,Neoplasm of the gastrointestinal tract,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0010797,Hemangioblastoma,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0012050,Anasarca,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0012126,Stomach cancer,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0012198,Juvenile colonic polyposis,Obligate (100%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0012432,Chronic fatigue,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0030049,Brain abscess,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0030256,Small intestinal polyposis,Frequent (79-30%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0040231,Abnormal onset of bleeding,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0100026,Arteriovenous malformation,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0100579,Mucosal telangiectasiae,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0100759,Clubbing of fingers,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0100761,Visceral angiomatosis,Very rare (<4-1%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0100822,Rectocele,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0100833,Neoplasm of the small intestine,Occasional (29-5%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003065,Orphanet,2929,ORPHA:2929,52,HP:0100896,Rectal polyposis,Obligate (100%),TAS,,,,"[PMID:20301642, PMID:25022750, PMID:29169633]",y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0000608,Macular degeneration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0000995,Melanocytic nevus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0001480,Freckling,Occasional (29-5%),TAS,,,,,y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0002299,Brittle hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0002813,Abnormality of limb bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0003777,Pili torti,Frequent (79-30%),TAS,,,,,y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0008002,Abnormality of macular pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003066,Orphanet,1573,ORPHA:1573,15,HP:0100326,Immunologic hypersensitivity,Occasional (29-5%),TAS,,,,,y,y +GARD:0003068,Orphanet,26137,ORPHA:26137,8,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,[PMID:19748701],y,y +GARD:0003068,Orphanet,26137,ORPHA:26137,8,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,[PMID:19748701],y,y +GARD:0003068,Orphanet,26137,ORPHA:26137,8,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,[PMID:19748701],y,y +GARD:0003068,Orphanet,26137,ORPHA:26137,8,HP:0002315,Headache,Frequent (79-30%),TAS,,,,[PMID:19748701],y,y +GARD:0003068,Orphanet,26137,ORPHA:26137,8,HP:0002633,Vasculitis,Excluded (0%),TAS,,,,[PMID:19748701],y,y +GARD:0003068,Orphanet,26137,ORPHA:26137,8,HP:0002637,Cerebral ischemia,Excluded (0%),TAS,,,,[PMID:19748701],y,y +GARD:0003068,Orphanet,26137,ORPHA:26137,8,HP:0003193,Allergic rhinitis,Occasional (29-5%),TAS,,,,[PMID:19748701],y,y +GARD:0003068,Orphanet,26137,ORPHA:26137,8,HP:0200036,Skin nodule,Frequent (79-30%),TAS,,,,[PMID:19748701],y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0002967,Cubitus valgus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0002991,Abnormality of fibula morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0003028,Abnormality of the ankles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0003063,Abnormality of the humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0005009,Dumbbell-shaped humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0005048,Synostosis of carpal bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0008368,Tarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0009465,Ulnar deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003074,Orphanet,1836,ORPHA:1836,15,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000262,Turricephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000377,Abnormal pinna morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000453,Choanal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000632,Lacrimation abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0001199,Triphalangeal thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0002673,Coxa valga,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0002869,Flared iliac wing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0003298,Spina bifida occulta,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0004452,Abnormality of the middle ear ossicles,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0004467,Preauricular pit,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0006288,Advanced eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0009465,Ulnar deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0010034,Short 1st metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0010097,Partial duplication of the distal phalanx of the hallux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0011453,Abnormality of the incus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0011454,Abnormality of the malleus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003075,Orphanet,949,ORPHA:949,44,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0000059,Hypoplastic labia majora,Frequent (79-30%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0000202,Oral cleft,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0000384,Preauricular skin tag,Occasional (29-5%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0000413,Atresia of the external auditory canal,Occasional (29-5%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0000480,Retinal coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0000612,Iris coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0002566,Intestinal malrotation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0006989,Dysplastic corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003078,Orphanet,2328,ORPHA:2328,22,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000159,Abnormal lip morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000177,Abnormality of upper lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000276,Long face,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000319,Smooth philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000587,Abnormality of the optic nerve,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0001135,Chorioretinal dystrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0001139,Choroideremia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0001833,Long foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0002098,Respiratory distress,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0002223,Absent eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0002878,Respiratory failure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0005469,Flat occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0008665,Clitoral hypertrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0010547,Muscle flaccidity,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003084,Orphanet,2707,ORPHA:2707,44,HP:0045074,Thin eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0000008,Abnormal morphology of female internal genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0000035,Abnormal testis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0000130,Abnormality of the uterus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0000889,Abnormal clavicle morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0001539,Omphalocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0001696,Situs inversus totalis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0001743,Abnormality of the spleen,Occasional (29-5%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0002089,Pulmonary hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0002435,Meningocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0004383,Hypoplastic left heart,Frequent (79-30%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0004414,Abnormality of the pulmonary artery,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0004971,Pulmonary artery hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0008633,Agonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0010458,Female pseudohermaphroditism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003086,Orphanet,991,ORPHA:991,31,HP:0100555,Asymmetric growth,Occasional (29-5%),TAS,,,,,y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0000491,Keratitis,Obligate (100%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0000526,Aniridia,Occasional (29-5%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0000539,Abnormality of refraction,Frequent (79-30%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0000589,Coloboma,Occasional (29-5%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0001104,Macular hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0006934,Congenital nystagmus,Occasional (29-5%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0007633,Bilateral microphthalmos,Occasional (29-5%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0007750,Hypoplasia of the fovea,Frequent (79-30%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0007759,Opacification of the corneal stroma,Frequent (79-30%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0007990,Hypoplastic iris stroma,Frequent (79-30%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0011496,Corneal neovascularization,Frequent (79-30%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0025348,Abnormality of the corneal limbus,Frequent (79-30%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003089,Orphanet,2334,ORPHA:2334,16,HP:0032107,Limbal stem cell deficiency,Frequent (79-30%),TAS,,,,"[PMID:22171686, PMID:24138039, PMID:7627897, PMID:7668281]",y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0000044,Hypogonadotropic hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0002143,Abnormality of the spinal cord,Occasional (29-5%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0007460,Autoamputation of digits,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0007465,Honeycomb palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0008388,Abnormal toenail morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0009775,Amniotic constriction ring,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,,y,y +GARD:0003092,Orphanet,494,ORPHA:494,17,HP:0200034,Papule,Occasional (29-5%),TAS,,,,,y,y +GARD:0003094,Orphanet,2202,ORPHA:2202,3,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003094,Orphanet,2202,ORPHA:2202,3,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003094,Orphanet,2202,ORPHA:2202,3,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003095,Orphanet,2201,ORPHA:2201,12,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003095,Orphanet,2201,ORPHA:2201,12,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003095,Orphanet,2201,ORPHA:2201,12,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003095,Orphanet,2201,ORPHA:2201,12,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0003095,Orphanet,2201,ORPHA:2201,12,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003095,Orphanet,2201,ORPHA:2201,12,HP:0001761,Pes cavus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003095,Orphanet,2201,ORPHA:2201,12,HP:0002301,Hemiplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003095,Orphanet,2201,ORPHA:2201,12,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003095,Orphanet,2201,ORPHA:2201,12,HP:0007021,Pain insensitivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003095,Orphanet,2201,ORPHA:2201,12,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003095,Orphanet,2201,ORPHA:2201,12,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003095,Orphanet,2201,ORPHA:2201,12,HP:0010547,Muscle flaccidity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0001041,Facial erythema,Frequent (79-30%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0001795,Hyperconvex nail,Frequent (79-30%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0001805,Onychogryposis,Occasional (29-5%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0001810,Dystrophic toenail,Frequent (79-30%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0005406,Recurrent bacterial skin infections,Frequent (79-30%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0007404,Nonepidermolytic palmoplantar hyperkeratosis,Frequent (79-30%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0007447,Diffuse palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0007556,Plantar hyperkeratosis,Frequent (79-30%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0008391,Dystrophic fingernails,Frequent (79-30%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0009775,Amniotic constriction ring,Occasional (29-5%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0010765,Palmar hyperkeratosis,Frequent (79-30%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0011370,Recurrent cutaneous fungal infections,Frequent (79-30%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0012785,Flexion contracture of finger,Frequent (79-30%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0025474,Erythematous plaque,Occasional (29-5%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0030318,Angular cheilitis,Frequent (79-30%),TAS,,,,[PMID:31911611],y,y +GARD:0003096,Orphanet,495,ORPHA:495,18,HP:0031452,Lichenoid skin lesion,Occasional (29-5%),TAS,,,,[PMID:31911611],y,y +GARD:0003098,Orphanet,2200,ORPHA:2200,9,HP:0000212,Gingival overgrowth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003098,Orphanet,2200,ORPHA:2200,9,HP:0000222,Gingival hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003098,Orphanet,2200,ORPHA:2200,9,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003098,Orphanet,2200,ORPHA:2200,9,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003098,Orphanet,2200,ORPHA:2200,9,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003098,Orphanet,2200,ORPHA:2200,9,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0003098,Orphanet,2200,ORPHA:2200,9,HP:0007497,Focal friction-related palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003098,Orphanet,2200,ORPHA:2200,9,HP:0008392,Subungual hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003098,Orphanet,2200,ORPHA:2200,9,HP:0008399,Circumungual hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003099,Orphanet,2339,ORPHA:2339,6,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:4834251],y,y +GARD:0003099,Orphanet,2339,ORPHA:2339,6,HP:0000561,Absent eyelashes,Frequent (79-30%),TAS,,,,[PMID:4834251],y,y +GARD:0003099,Orphanet,2339,ORPHA:2339,6,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,[PMID:4834251],y,y +GARD:0003099,Orphanet,2339,ORPHA:2339,6,HP:0002223,Absent eyebrow,Frequent (79-30%),TAS,,,,[PMID:4834251],y,y +GARD:0003099,Orphanet,2339,ORPHA:2339,6,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,[PMID:4834251],y,y +GARD:0003099,Orphanet,2339,ORPHA:2339,6,HP:0007439,Generalized keratosis follicularis,Frequent (79-30%),TAS,,,,[PMID:4834251],y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0000166,Severe periodontitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0000230,Gingivitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0000704,Periodontitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0000972,Palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0000998,Hypertrichosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0001073,Cigarette-paper scars,Occasional (29-5%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0002231,Sparse body hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0002860,Squamous cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0006308,Atrophy of alveolar ridges,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0006323,Premature loss of primary teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0011132,Chronic furunculosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0100523,Liver abscess,Occasional (29-5%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0100838,Recurrent cutaneous abscess formation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003100,Orphanet,678,ORPHA:678,29,HP:0200039,Pustule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0002239,Gastrointestinal hemorrhage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0002250,Abnormal large intestine morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0025270,Abnormal esophagus physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0045026,Abnormality of the mediastinum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0100751,Esophageal neoplasm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003102,Orphanet,2198,ORPHA:2198,15,HP:0100760,Clubbing of toes,Occasional (29-5%),TAS,,,,,y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0000972,Palmoplantar hyperkeratosis,Very frequent (99-80%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0002671,Basal cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0002860,Squamous cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0003002,Breast carcinoma,Occasional (29-5%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0005584,Renal cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0006725,Pancreatic adenocarcinoma,Very rare (<4-1%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0008404,Nail dystrophy,Very rare (<4-1%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0010622,Neoplasm of the skeletal system,Very rare (<4-1%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0011124,Abnormal epidermal morphology,Very frequent (99-80%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0012125,Prostate cancer,Very rare (<4-1%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0012126,Stomach cancer,Very rare (<4-1%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0012189,Hodgkin lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0012500,Verrucous papule,Occasional (29-5%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0025092,Epidermal acanthosis,Frequent (79-30%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0025114,Hypergranulosis,Frequent (79-30%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0030692,Brain neoplasm,Very rare (<4-1%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0040162,Orthokeratosis,Frequent (79-30%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0040274,Adenocarcinoma of the small intestine,Very rare (<4-1%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0040276,Adenocarcinoma of the colon,Very rare (<4-1%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0045059,Hyperkeratotic papule,Very frequent (99-80%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0100526,Neoplasm of the lung,Very rare (<4-1%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003103,Orphanet,79501,ORPHA:79501,25,HP:0100751,Esophageal neoplasm,Occasional (29-5%),TAS,,,,"[PMID:23064416, PMID:26608363, PMID:31526046, PMID:31762743]",y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0004337,Abnormality of amino acid metabolism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003105,Orphanet,28378,ORPHA:28378,17,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003109,Orphanet,499,ORPHA:499,8,HP:0001581,Recurrent skin infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003109,Orphanet,499,ORPHA:499,8,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003109,Orphanet,499,ORPHA:499,8,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0003109,Orphanet,499,ORPHA:499,8,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,,y,y +GARD:0003109,Orphanet,499,ORPHA:499,8,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003109,Orphanet,499,ORPHA:499,8,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003109,Orphanet,499,ORPHA:499,8,HP:0011123,Inflammatory abnormality of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003109,Orphanet,499,ORPHA:499,8,HP:0100838,Recurrent cutaneous abscess formation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0000230,Gingivitis,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0000399,Prelingual sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0000491,Keratitis,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0000509,Conjunctivitis,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0000653,Sparse eyelashes,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0000966,Hypohidrosis,Occasional (29-5%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0001097,Keratoconjunctivitis sicca,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0001305,Dandy-Walker malformation,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0001320,Cerebellar vermis hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0001805,Onychogryposis,Occasional (29-5%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0001999,Abnormal facial shape,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0002673,Coxa valga,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0002860,Squamous cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0003065,Patellar hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0003765,Psoriasiform dermatitis,Occasional (29-5%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0004552,Scarring alopecia of scalp,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0005328,Progeroid facial appearance,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0005401,Recurrent candida infections,Occasional (29-5%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0005406,Recurrent bacterial skin infections,Occasional (29-5%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0006380,Knee flexion contracture,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0007431,Congenital ichthyosiform erythroderma,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0007502,Follicular hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0008038,Aplastic/hypoplastic lacrimal glands,Occasional (29-5%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0008069,Neoplasm of the skin,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0008138,Equinus calcaneus,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0008625,Severe sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0008788,Delayed pubic bone ossification,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0008897,Postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0009830,Peripheral neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0011220,Prominent forehead,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0011370,Recurrent cutaneous fungal infections,Occasional (29-5%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0011496,Corneal neovascularization,Very frequent (99-80%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0011859,Punctate keratitis,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0012844,Trichilemmoma,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0025084,Folliculitis,Occasional (29-5%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0025092,Epidermal acanthosis,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0025610,Posterior blepharitis,Occasional (29-5%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0030318,Angular cheilitis,Occasional (29-5%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0030839,Knee pain,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0031250,Lip fissure,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0032107,Limbal stem cell deficiency,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0040154,Acne inversa,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0040189,Scaling skin,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0100648,Neoplasm of the tongue,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0100838,Recurrent cutaneous abscess formation,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0200020,Corneal erosion,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0200035,Skin plaque,Frequent (79-30%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003113,Orphanet,477,ORPHA:477,60,HP:0200036,Skin nodule,Very rare (<4-1%),TAS,,,,"[PMID:31421982, PMID:32367610, PMID:32733727, PMID:33614714]",y,y +GARD:0003118,Orphanet,2110,ORPHA:2110,2,HP:0001852,Sandal gap,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003118,Orphanet,2110,ORPHA:2110,2,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0000098,Tall stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0000140,Abnormality of the menstrual cycle,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0000965,Cutis marmorata,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0001012,Multiple lipomas,Frequent (79-30%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0001048,Cavernous hemangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0001161,Hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0001180,Hand oligodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0001528,Hemihypertrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0001626,Abnormality of the cardiovascular system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0001704,Tricuspid valve prolapse,Frequent (79-30%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0001928,Abnormality of coagulation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0002239,Gastrointestinal hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0002597,Abnormality of the vasculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0002814,Abnormality of the lower limb,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0004099,Macrodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0005293,Venous insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0007481,Hyperpigmented nevi,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0100553,Hemihypertrophy of lower limb,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0100554,Hemihypertrophy of upper limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0100585,Telangiectasia of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0100729,Large face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0100761,Visceral angiomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0100784,Peripheral arteriovenous fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0003122,Orphanet,2346,ORPHA:2346,42,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0000260,Wide anterior fontanel,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0000773,Short ribs,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0000907,Anterior rib cupping,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0000946,Hypoplastic ilia,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0000969,Edema,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0001538,Protuberant abdomen,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0001623,Breech presentation,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0002763,Abnormal cartilage morphology,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0003015,Flared metaphysis,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0003174,Abnormality of the ischium,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0003417,Coronal cleft vertebrae,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0005026,Mesomelic/rhizomelic limb shortening,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0005622,Broad long bones,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0008178,Abnormal cartilage matrix,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0008479,Hypoplastic vertebral bodies,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0008890,Severe short-limb dwarfism,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003124,Orphanet,2347,ORPHA:2347,27,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,[PMID:6358440],y,y +GARD:0003125,Orphanet,2698,ORPHA:2698,7,HP:0000410,Mixed hearing impairment,Occasional (29-5%),TAS,,,,[PMID:22421650],y,y +GARD:0003125,Orphanet,2698,ORPHA:2698,7,HP:0000972,Palmoplantar hyperkeratosis,Frequent (79-30%),TAS,,,,[PMID:22421650],y,y +GARD:0003125,Orphanet,2698,ORPHA:2698,7,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,[PMID:22421650],y,y +GARD:0003125,Orphanet,2698,ORPHA:2698,7,HP:0001820,Leukonychia,Very frequent (99-80%),TAS,,,,[PMID:22421650],y,y +GARD:0003125,Orphanet,2698,ORPHA:2698,7,HP:0008527,Congenital sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:22421650],y,y +GARD:0003125,Orphanet,2698,ORPHA:2698,7,HP:0032541,Knuckle pad,Very frequent (99-80%),TAS,,,,[PMID:22421650],y,y +GARD:0003125,Orphanet,2698,ORPHA:2698,7,HP:0045059,Hyperkeratotic papule,Occasional (29-5%),TAS,,,,[PMID:22421650],y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0000819,Diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0000869,Secondary amenorrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0000956,Acanthosis nigricans,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0000963,Thin skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0000991,Xanthomatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0001677,Coronary artery atherosclerosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0002155,Hypertriglyceridemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0002621,Atherosclerosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0003635,Loss of subcutaneous adipose tissue in limbs,Frequent (79-30%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0003712,Skeletal muscle hypertrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0005339,Abnormality of complement system,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0006288,Advanced eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0009125,Lipodystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0012084,Abnormality of skeletal muscle fiber size,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0100601,Eclampsia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0100607,Dysmenorrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003126,Orphanet,2348,ORPHA:2348,34,HP:0100820,Glomerulopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003128,Orphanet,1946,ORPHA:1946,14,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003128,Orphanet,1946,ORPHA:1946,14,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003128,Orphanet,1946,ORPHA:1946,14,HP:0000705,Amelogenesis imperfecta,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003128,Orphanet,1946,ORPHA:1946,14,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003128,Orphanet,1946,ORPHA:1946,14,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003128,Orphanet,1946,ORPHA:1946,14,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003128,Orphanet,1946,ORPHA:1946,14,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003128,Orphanet,1946,ORPHA:1946,14,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003128,Orphanet,1946,ORPHA:1946,14,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003128,Orphanet,1946,ORPHA:1946,14,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003128,Orphanet,1946,ORPHA:1946,14,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0003128,Orphanet,1946,ORPHA:1946,14,HP:0006286,Yellow-brown discoloration of the teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003128,Orphanet,1946,ORPHA:1946,14,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0003128,Orphanet,1946,ORPHA:1946,14,HP:0011073,Abnormality of dental color,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0001373,Joint dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0002036,Hiatus hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0002063,Rigidity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0002380,Fasciculations,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0003552,Muscle stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0100633,Esophagitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003129,Orphanet,3197,ORPHA:3197,21,HP:0100790,Hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0000446,Narrow nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0001991,Aplasia/Hypoplasia of toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0002217,Slow-growing hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0004299,Hernia of the abdominal wall,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0006265,Aplasia/Hypoplasia of fingers,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0009896,Abnormal antitragus morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0009906,Aplasia/Hypoplasia of the earlobes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0010059,Broad hallux phalanx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0010508,Metatarsus valgus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0030056,Uncombable hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003141,Orphanet,3082,ORPHA:3082,34,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003150,Orphanet,1149,ORPHA:1149,10,HP:0000889,Abnormal clavicle morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003150,Orphanet,1149,ORPHA:1149,10,HP:0000995,Melanocytic nevus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003150,Orphanet,1149,ORPHA:1149,10,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003150,Orphanet,1149,ORPHA:1149,10,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,,y,y +GARD:0003150,Orphanet,1149,ORPHA:1149,10,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003150,Orphanet,1149,ORPHA:1149,10,HP:0001883,Talipes,Frequent (79-30%),TAS,,,,,y,y +GARD:0003150,Orphanet,1149,ORPHA:1149,10,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003150,Orphanet,1149,ORPHA:1149,10,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0003150,Orphanet,1149,ORPHA:1149,10,HP:0006498,Aplasia/Hypoplasia of the patella,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003150,Orphanet,1149,ORPHA:1149,10,HP:0006501,Aplasia/Hypoplasia of the radius,Occasional (29-5%),TAS,,,,,y,y +GARD:0003159,Orphanet,2364,ORPHA:2364,11,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:1999544, PMID:5119336, PMID:6517049, PMID:8270259]",y,y +GARD:0003159,Orphanet,2364,ORPHA:2364,11,HP:0000972,Palmoplantar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:1999544, PMID:5119336, PMID:6517049, PMID:8270259]",y,y +GARD:0003159,Orphanet,2364,ORPHA:2364,11,HP:0002151,Increased serum lactate,Very frequent (99-80%),TAS,,,,"[PMID:1999544, PMID:5119336, PMID:6517049, PMID:8270259]",y,y +GARD:0003159,Orphanet,2364,ORPHA:2364,11,HP:0002913,Myoglobinuria,Frequent (79-30%),TAS,,,,"[PMID:1999544, PMID:5119336, PMID:6517049, PMID:8270259]",y,y +GARD:0003159,Orphanet,2364,ORPHA:2364,11,HP:0003201,Rhabdomyolysis,Occasional (29-5%),TAS,,,,"[PMID:1999544, PMID:5119336, PMID:6517049, PMID:8270259]",y,y +GARD:0003159,Orphanet,2364,ORPHA:2364,11,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,"[PMID:1999544, PMID:5119336, PMID:6517049, PMID:8270259]",y,y +GARD:0003159,Orphanet,2364,ORPHA:2364,11,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,"[PMID:1999544, PMID:5119336, PMID:6517049, PMID:8270259]",y,y +GARD:0003159,Orphanet,2364,ORPHA:2364,11,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:1999544, PMID:5119336, PMID:6517049, PMID:8270259]",y,y +GARD:0003159,Orphanet,2364,ORPHA:2364,11,HP:0003542,Increased serum pyruvate,Very frequent (99-80%),TAS,,,,"[PMID:1999544, PMID:5119336, PMID:6517049, PMID:8270259]",y,y +GARD:0003159,Orphanet,2364,ORPHA:2364,11,HP:0003552,Muscle stiffness,Frequent (79-30%),TAS,,,,"[PMID:1999544, PMID:5119336, PMID:6517049, PMID:8270259]",y,y +GARD:0003159,Orphanet,2364,ORPHA:2364,11,HP:0009020,Exercise-induced muscle fatigue,Frequent (79-30%),TAS,,,,"[PMID:1999544, PMID:5119336, PMID:6517049, PMID:8270259]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0000989,Pruritus,Very rare (<4-1%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0001036,Parakeratosis,Occasional (29-5%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0001787,Abnormal delivery,Frequent (79-30%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0001919,Acute kidney injury,Occasional (29-5%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0002046,Heat intolerance,Occasional (29-5%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0003738,Exercise-induced myalgia,Frequent (79-30%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0007432,Intermittent generalized erythematous papular rash,Occasional (29-5%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0008305,Exercise-induced myoglobinuria,Frequent (79-30%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0008331,Elevated creatine kinase after exercise,Frequent (79-30%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0009045,Exercise-induced rhabdomyolysis,Frequent (79-30%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0011356,Regional abnormality of skin,Frequent (79-30%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0012622,Chronic kidney disease,Occasional (29-5%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0025474,Erythematous plaque,Frequent (79-30%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0025526,Psoriasiform lesion,Frequent (79-30%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0025528,Annular cutaneous lesion,Frequent (79-30%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0031190,Superficial dermal perivascular inflammatory infiltrate,Occasional (29-5%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0031236,Predominantly dermal neutrophilic infiltrate,Occasional (29-5%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0040189,Scaling skin,Frequent (79-30%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0045040,Abnormal lactate dehydrogenase level,Occasional (29-5%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003160,Orphanet,284426,ORPHA:284426,23,HP:0200039,Pustule,Frequent (79-30%),TAS,,,,"[PMID:25640002, PMID:2620460, PMID:27450766, PMID:7603529]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0000047,Hypospadias,Very rare (<4-1%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0000202,Oral cleft,Very rare (<4-1%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001298,Encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001643,Patent ductus arteriosus,Very rare (<4-1%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001655,Patent foramen ovale,Very rare (<4-1%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001680,Coarctation of aorta,Very rare (<4-1%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002045,Hypothermia,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002317,Unsteady gait,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002352,Leukoencephalopathy,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002487,Hyperkinetic movements,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002490,Increased CSF lactate,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0002912,Methylmalonic acidemia,Obligate (100%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0003097,Short femur,Very rare (<4-1%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0003200,Ragged-red muscle fibers,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0003201,Rhabdomyolysis,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0003219,Ethylmalonic aciduria,Very rare (<4-1%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0003535,3-Methylglutaconic aciduria,Very frequent (99-80%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0003557,Increased variability in muscle fiber diameter,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0004742,Abnormal renal collecting system morphology,Very rare (<4-1%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0005792,Short humerus,Very rare (<4-1%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0008347,Decreased activity of mitochondrial complex IV,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0010442,Polydactyly,Very rare (<4-1%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0011611,Interrupted aortic arch,Very rare (<4-1%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0011923,Decreased activity of mitochondrial complex I,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0011924,Decreased activity of mitochondrial complex III,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0012087,Abnormal mitochondrial shape,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0012120,Methylmalonic aciduria,Obligate (100%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0012240,Increased intramyocellular lipid droplets,Occasional (29-5%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003163,Orphanet,17,ORPHA:17,64,HP:0012751,Abnormal basal ganglia MRI signal intensity,Very frequent (99-80%),TAS,,,,"[PMID:28358460, PMID:31240156]",y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0000023,Inguinal hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0001396,Cholestasis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0001531,Failure to thrive in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0005248,Intrahepatic biliary atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003169,Orphanet,1296,ORPHA:1296,16,HP:0009794,Branchial anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003188,Orphanet,2004,ORPHA:2004,13,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:13787605, PMID:22151899, PMID:4705933]",y,y +GARD:0003188,Orphanet,2004,ORPHA:2004,13,HP:0001601,Laryngomalacia,Frequent (79-30%),TAS,,,,"[PMID:13787605, PMID:22151899, PMID:4705933]",y,y +GARD:0003188,Orphanet,2004,ORPHA:2004,13,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,"[PMID:13787605, PMID:22151899, PMID:4705933]",y,y +GARD:0003188,Orphanet,2004,ORPHA:2004,13,HP:0001615,Hoarse cry,Frequent (79-30%),TAS,,,,"[PMID:13787605, PMID:22151899, PMID:4705933]",y,y +GARD:0003188,Orphanet,2004,ORPHA:2004,13,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:13787605, PMID:22151899, PMID:4705933]",y,y +GARD:0003188,Orphanet,2004,ORPHA:2004,13,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:13787605, PMID:22151899, PMID:4705933]",y,y +GARD:0003188,Orphanet,2004,ORPHA:2004,13,HP:0002643,Neonatal respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:13787605, PMID:22151899, PMID:4705933]",y,y +GARD:0003188,Orphanet,2004,ORPHA:2004,13,HP:0002835,Aspiration,Frequent (79-30%),TAS,,,,"[PMID:13787605, PMID:22151899, PMID:4705933]",y,y +GARD:0003188,Orphanet,2004,ORPHA:2004,13,HP:0008751,Laryngeal cleft,Obligate (100%),TAS,,,,"[PMID:13787605, PMID:22151899, PMID:4705933]",y,y +GARD:0003188,Orphanet,2004,ORPHA:2004,13,HP:0010307,Stridor,Frequent (79-30%),TAS,,,,"[PMID:13787605, PMID:22151899, PMID:4705933]",y,y +GARD:0003188,Orphanet,2004,ORPHA:2004,13,HP:0012735,Cough,Frequent (79-30%),TAS,,,,"[PMID:13787605, PMID:22151899, PMID:4705933]",y,y +GARD:0003188,Orphanet,2004,ORPHA:2004,13,HP:0030842,Choking episodes,Frequent (79-30%),TAS,,,,"[PMID:13787605, PMID:22151899, PMID:4705933]",y,y +GARD:0003188,Orphanet,2004,ORPHA:2004,13,HP:0031162,Impaired oropharyngeal swallow response,Frequent (79-30%),TAS,,,,"[PMID:13787605, PMID:22151899, PMID:4705933]",y,y +GARD:0003194,Orphanet,1202,ORPHA:1202,6,HP:0001601,Laryngomalacia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003194,Orphanet,1202,ORPHA:1202,6,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003194,Orphanet,1202,ORPHA:1202,6,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003194,Orphanet,1202,ORPHA:1202,6,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003194,Orphanet,1202,ORPHA:1202,6,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0003194,Orphanet,1202,ORPHA:1202,6,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003195,Orphanet,505,ORPHA:505,7,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003195,Orphanet,505,ORPHA:505,7,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003195,Orphanet,505,ORPHA:505,7,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003195,Orphanet,505,ORPHA:505,7,HP:0002215,Sparse axillary hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003195,Orphanet,505,ORPHA:505,7,HP:0002225,Sparse pubic hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003195,Orphanet,505,ORPHA:505,7,HP:0007468,Perifollicular hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003195,Orphanet,505,ORPHA:505,7,HP:0100725,Lichenification,Frequent (79-30%),TAS,,,,,y,y +GARD:0003203,Orphanet,2379,ORPHA:2379,9,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003203,Orphanet,2379,ORPHA:2379,9,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003203,Orphanet,2379,ORPHA:2379,9,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003203,Orphanet,2379,ORPHA:2379,9,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003203,Orphanet,2379,ORPHA:2379,9,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003203,Orphanet,2379,ORPHA:2379,9,HP:0002063,Rigidity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003203,Orphanet,2379,ORPHA:2379,9,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003203,Orphanet,2379,ORPHA:2379,9,HP:0002396,Cogwheel rigidity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003203,Orphanet,2379,ORPHA:2379,9,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000377,Abnormal pinna morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000579,Nasolacrimal duct obstruction,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000589,Coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0000987,Atypical scarring of skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0001028,Hemangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0002002,Deep philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0002216,Premature graying of hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0004464,Postauricular pit,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0004467,Preauricular pit,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0008606,Supraauricular pit,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0009804,Tooth agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0100268,Upper lip pit,Occasional (29-5%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0003212,Orphanet,1297,ORPHA:1297,37,HP:0100798,Fingernail dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000036,Abnormal penis morphology,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000039,Epispadias,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000176,Submucous cleft hard palate,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000270,Delayed cranial suture closure,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000453,Choanal atresia,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000614,Abnormal nasolacrimal system morphology,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000682,Abnormal dental enamel morphology,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0001331,Absent septum pellucidum,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0001804,Hypoplastic fingernail,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0001812,Hyperconvex fingernails,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0002684,Thickened calvaria,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0003070,Elbow ankylosis,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0003241,External genital hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0004437,Cranial hyperostosis,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0005465,Facial hyperostosis,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0006660,Aplastic clavicle,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0009773,Symphalangism affecting the phalanges of the hand,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0011002,Osteopetrosis,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003223,Orphanet,2658,ORPHA:2658,58,HP:0100541,Femoral hernia,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0001191,Abnormal carpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0001804,Hypoplastic fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0002648,Abnormality of calvarial morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0002818,Abnormality of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0002823,Abnormality of femur morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0002970,Genu varum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0002982,Tibial bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0002984,Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0002986,Radial bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0002992,Abnormality of tibia morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0002997,Abnormality of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0003022,Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0003031,Ulnar bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0003042,Elbow dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0003063,Abnormality of the humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0003067,Madelung deformity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0005019,Diaphyseal thickening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0005736,Short tibia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0006248,Limited wrist movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0006443,Patellar aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0006459,Dorsal subluxation of ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0010579,Cone-shaped epiphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0010624,Aplastic/hypoplastic toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003224,Orphanet,240,ORPHA:240,37,HP:0100777,Exostoses,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0002089,Pulmonary hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0003100,Slender long bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0003103,Abnormal cortical bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0009775,Amniotic constriction ring,Frequent (79-30%),TAS,,,,,y,y +GARD:0003227,Orphanet,1486,ORPHA:1486,18,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,,y,y +GARD:0003228,Orphanet,511,ORPHA:511,11,HP:0000600,Abnormality of the pharynx,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003228,Orphanet,511,ORPHA:511,11,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003228,Orphanet,511,ORPHA:511,11,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003228,Orphanet,511,ORPHA:511,11,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003228,Orphanet,511,ORPHA:511,11,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003228,Orphanet,511,ORPHA:511,11,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003228,Orphanet,511,ORPHA:511,11,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003228,Orphanet,511,ORPHA:511,11,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003228,Orphanet,511,ORPHA:511,11,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003228,Orphanet,511,ORPHA:511,11,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003228,Orphanet,511,ORPHA:511,11,HP:0008344,Elevated plasma branched chain amino acids,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0000649,Abnormality of visual evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0000751,Personality changes,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0002191,Progressive spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0002246,Abnormal duodenum morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0002311,Incoordination,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0002576,Intussusception,Very rare (<4-1%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0002577,Abnormal stomach morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0006970,Periventricular leukomalacia,Very frequent (99-80%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0009763,Limb pain,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0012437,Abnormal gallbladder morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0025013,Decerebrate rigidity,Very rare (<4-1%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0030858,Addictive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0030890,Hyperintensity of cerebral white matter on MRI,Frequent (79-30%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0031064,Impaired continence,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0100575,Neoplasm of the gallbladder,Very rare (<4-1%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003230,Orphanet,512,ORPHA:512,45,HP:0100762,Hemobilia,Very rare (<4-1%),TAS,,,,"[PMID:20301509, PMID:20571983, PMID:25987178]",y,y +GARD:0003231,Orphanet,99852,ORPHA:99852,14,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,[PMID:22411793],y,y +GARD:0003231,Orphanet,99852,ORPHA:99852,14,HP:0000932,Abnormal posterior cranial fossa morphology,Very frequent (99-80%),TAS,,,,[PMID:22411793],y,y +GARD:0003231,Orphanet,99852,ORPHA:99852,14,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,[PMID:22411793],y,y +GARD:0003231,Orphanet,99852,ORPHA:99852,14,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,[PMID:22411793],y,y +GARD:0003231,Orphanet,99852,ORPHA:99852,14,HP:0001508,Failure to thrive,Obligate (100%),TAS,,,,[PMID:22411793],y,y +GARD:0003231,Orphanet,99852,ORPHA:99852,14,HP:0001600,Abnormality of the larynx,Occasional (29-5%),TAS,,,,[PMID:22411793],y,y +GARD:0003231,Orphanet,99852,ORPHA:99852,14,HP:0002039,Anorexia,Obligate (100%),TAS,,,,[PMID:22411793],y,y +GARD:0003231,Orphanet,99852,ORPHA:99852,14,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,[PMID:22411793],y,y +GARD:0003231,Orphanet,99852,ORPHA:99852,14,HP:0002134,Abnormality of the basal ganglia,Very frequent (99-80%),TAS,,,,[PMID:22411793],y,y +GARD:0003231,Orphanet,99852,ORPHA:99852,14,HP:0002363,Abnormal brainstem morphology,Very frequent (99-80%),TAS,,,,[PMID:22411793],y,y +GARD:0003231,Orphanet,99852,ORPHA:99852,14,HP:0002448,Progressive encephalopathy,Obligate (100%),TAS,,,,[PMID:22411793],y,y +GARD:0003231,Orphanet,99852,ORPHA:99852,14,HP:0004325,Decreased body weight,Obligate (100%),TAS,,,,[PMID:22411793],y,y +GARD:0003231,Orphanet,99852,ORPHA:99852,14,HP:0006958,Abnormal auditory evoked potentials,Frequent (79-30%),TAS,,,,[PMID:22411793],y,y +GARD:0003231,Orphanet,99852,ORPHA:99852,14,HP:0007366,Atrophy/Degeneration affecting the brainstem,Very frequent (99-80%),TAS,,,,[PMID:22411793],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0000726,Dementia,Very frequent (99-80%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0000972,Palmoplantar hyperkeratosis,Obligate (100%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0001276,Hypertonia,Obligate (100%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0001350,Slurred speech,Frequent (79-30%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0002200,Pseudobulbar signs,Very frequent (99-80%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0002273,Tetraparesis,Very frequent (99-80%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0002317,Unsteady gait,Obligate (100%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0003380,Decreased number of peripheral myelinated nerve fibers,Occasional (29-5%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0010845,EEG with generalized slow activity,Very frequent (99-80%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0100252,Diaphyseal dysplasia,Frequent (79-30%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0100543,Cognitive impairment,Obligate (100%),TAS,,,,[PMID:7854535],y,y +GARD:0003232,Orphanet,2386,ORPHA:2386,16,HP:0200034,Papule,Frequent (79-30%),TAS,,,,[PMID:7854535],y,y +GARD:0003236,Orphanet,2743,ORPHA:2743,13,HP:0000221,Furrowed tongue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003236,Orphanet,2743,ORPHA:2743,13,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003236,Orphanet,2743,ORPHA:2743,13,HP:0000512,Abnormal electroretinogram,Occasional (29-5%),TAS,,,,,y,y +GARD:0003236,Orphanet,2743,ORPHA:2743,13,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003236,Orphanet,2743,ORPHA:2743,13,HP:0000597,Ophthalmoparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003236,Orphanet,2743,ORPHA:2743,13,HP:0000602,Ophthalmoplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003236,Orphanet,2743,ORPHA:2743,13,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003236,Orphanet,2743,ORPHA:2743,13,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003236,Orphanet,2743,ORPHA:2743,13,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003236,Orphanet,2743,ORPHA:2743,13,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003236,Orphanet,2743,ORPHA:2743,13,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003236,Orphanet,2743,ORPHA:2743,13,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003236,Orphanet,2743,ORPHA:2743,13,HP:0012246,Oculomotor nerve palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0000048,Bifid scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0000059,Hypoplastic labia majora,Frequent (79-30%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0001171,Split hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0008288,Nonketotic hyperglycinemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0009754,Fibrous syngnathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0009755,Ankyloblepharon,Frequent (79-30%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0009756,Popliteal pterygium,Frequent (79-30%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0100267,Lip pit,Frequent (79-30%),TAS,,,,,y,y +GARD:0003242,Orphanet,1300,ORPHA:1300,24,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000026,Male hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000030,Testicular gonadoblastoma,Occasional (29-5%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000037,Male pseudohermaphroditism,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000118,Phenotypic abnormality,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000134,Female hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000151,Aplasia of the uterus,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000786,Primary amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000811,Abnormal external genitalia,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000812,Abnormal internal genitalia,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000837,Increased circulating gonadotropin level,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0000869,Secondary amenorrhea,Occasional (29-5%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0008187,Absence of secondary sex characteristics,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0008193,Primary gonadal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0010790,Hyoplasia of the Leydig cells,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0012872,Abnormal vas deferens morphology,Occasional (29-5%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003244,Orphanet,755,ORPHA:755,23,HP:0100783,Breast aplasia,Very frequent (99-80%),TAS,,,,"[PMID:10852464, PMID:12050206, PMID:152780, PMID:152790, PMID:1617805, PMID:23044874, PMID:6792847, PMID:7581384, PMID:7719343]",y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0001059,Pterygium,Occasional (29-5%),TAS,,,,,y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0001806,Onycholysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0002242,Abnormal intestine morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0004334,Dermal atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0008066,Abnormal blistering of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0012115,Hepatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0100649,Neoplasm of the oral cavity,Occasional (29-5%),TAS,,,,,y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0100725,Lichenification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003247,Orphanet,525,ORPHA:525,15,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0000077,Abnormality of the kidney,Frequent (79-30%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0000925,Abnormality of the vertebral column,Frequent (79-30%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0001132,Lens subluxation,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0001195,Single umbilical artery,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0001196,Short umbilical cord,Frequent (79-30%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0001540,Diastasis recti,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0001683,Ectopia cordis,Frequent (79-30%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0001776,Bilateral talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0001839,Split foot,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0002011,Morphological central nervous system abnormality,Frequent (79-30%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0002143,Abnormality of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0002242,Abnormal intestine morphology,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0002323,Anencephaly,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0002475,Myelomeningocele,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0002933,Ventral hernia,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0004275,Duplication of hand bones,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0005257,Thoracic hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0006368,Forearm reduction defects,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0006496,Aplasia/hypoplasia involving bones of the upper limbs,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0006711,Aplasia/Hypoplasia involving bones of the thorax,Frequent (79-30%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0007385,Aplasia cutis congenita of scalp,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0008458,Progressive congenital scoliosis,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0009775,Amniotic constriction ring,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0010055,Broad hallux,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0010242,Aplasia of the proximal phalanges of the hand,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0010541,Cutis gyrata of scalp,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0010554,Cutaneous finger syndactyly,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0010866,Abdominal wall defect,Very frequent (99-80%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0011418,Abnormal insertion of umbilical cord,Very frequent (99-80%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0040064,Abnormality of limbs,Very frequent (99-80%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0100656,Thoracoabdominal wall defect,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003251,Orphanet,2369,ORPHA:2369,49,HP:0410030,Cleft lip,Occasional (29-5%),TAS,,,,"[PMID:24928524, PMID:26436108, PMID:28540190, PMID:2962493, PMID:31556549]",y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000089,Renal hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000171,Microglossia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000308,Microretrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0001839,Split foot,Occasional (29-5%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0002916,Abnormality of chromosome segregation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0002997,Abnormality of the ulna,Occasional (29-5%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0003019,Abnormality of the wrist,Frequent (79-30%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0003028,Abnormality of the ankles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0006501,Aplasia/Hypoplasia of the radius,Frequent (79-30%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0008368,Tarsal synostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0009601,Aplasia/Hypoplasia of the thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0003252,Orphanet,1307,ORPHA:1307,30,HP:0012165,Oligodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0000481,Abnormal cornea morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0000929,Abnormal skull morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0002148,Hypophosphatemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0002652,Skeletal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0002816,Genu recurvatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0008060,Aplasia/Hypoplasia of the fovea,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0009592,Astrocytoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0010049,Short metacarpal,Occasional (29-5%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0012500,Verrucous papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003259,Orphanet,2611,ORPHA:2611,27,HP:0100006,Neoplasm of the central nervous system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0001987,Hyperammonemia,Occasional (29-5%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0002151,Increased serum lactate,Very frequent (99-80%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0002480,Hepatic encephalopathy,Frequent (79-30%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0003234,Decreased plasma carnitine,Occasional (29-5%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0008344,Elevated plasma branched chain amino acids,Frequent (79-30%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0010913,Hyperisoleucinemia,Occasional (29-5%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0012402,Increased urine alpha-ketoglutarate concentration,Frequent (79-30%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0012758,Neurodevelopmental delay,Very frequent (99-80%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0030872,Abnormal cardiac ventricular function,Occasional (29-5%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003263,Orphanet,2394,ORPHA:2394,28,HP:0100724,Hypercoagulability,Frequent (79-30%),TAS,,,,"[PMID:23290025, PMID:25032271]",y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0000168,Abnormality of the gingiva,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0000171,Microglossia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0000199,Tongue nodules,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0001061,Acne,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0001609,Hoarse voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0002293,Alopecia of scalp,Frequent (79-30%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0011830,Abnormal oral mucosa morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0100582,Nasal polyposis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0100699,Scarring,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0200039,Pustule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003268,Orphanet,530,ORPHA:530,23,HP:0200043,Verrucae,Frequent (79-30%),TAS,,,,,y,y +GARD:0003284,Orphanet,101016,ORPHA:101016,13,HP:0000365,Hearing impairment,Excluded (0%),TAS,,,,"[PMID:14136838, PMID:17192539, PMID:18606002, PMID:23511927, PMID:8058139]",y,y +GARD:0003284,Orphanet,101016,ORPHA:101016,13,HP:0001197,Abnormality of prenatal development or birth,Very rare (<4-1%),TAS,,,,"[PMID:14136838, PMID:17192539, PMID:18606002, PMID:23511927, PMID:8058139]",y,y +GARD:0003284,Orphanet,101016,ORPHA:101016,13,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:14136838, PMID:17192539, PMID:18606002, PMID:23511927, PMID:8058139]",y,y +GARD:0003284,Orphanet,101016,ORPHA:101016,13,HP:0001279,Syncope,Frequent (79-30%),TAS,,,,"[PMID:14136838, PMID:17192539, PMID:18606002, PMID:23511927, PMID:8058139]",y,y +GARD:0003284,Orphanet,101016,ORPHA:101016,13,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,"[PMID:14136838, PMID:17192539, PMID:18606002, PMID:23511927, PMID:8058139]",y,y +GARD:0003284,Orphanet,101016,ORPHA:101016,13,HP:0001664,Torsade de pointes,Occasional (29-5%),TAS,,,,"[PMID:14136838, PMID:17192539, PMID:18606002, PMID:23511927, PMID:8058139]",y,y +GARD:0003284,Orphanet,101016,ORPHA:101016,13,HP:0001688,Sinus bradycardia,Frequent (79-30%),TAS,,,,"[PMID:14136838, PMID:17192539, PMID:18606002, PMID:23511927, PMID:8058139]",y,y +GARD:0003284,Orphanet,101016,ORPHA:101016,13,HP:0002900,Hypokalemia,Very rare (<4-1%),TAS,,,,"[PMID:14136838, PMID:17192539, PMID:18606002, PMID:23511927, PMID:8058139]",y,y +GARD:0003284,Orphanet,101016,ORPHA:101016,13,HP:0004308,Ventricular arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:14136838, PMID:17192539, PMID:18606002, PMID:23511927, PMID:8058139]",y,y +GARD:0003284,Orphanet,101016,ORPHA:101016,13,HP:0005135,Abnormal T-wave,Frequent (79-30%),TAS,,,,"[PMID:14136838, PMID:17192539, PMID:18606002, PMID:23511927, PMID:8058139]",y,y +GARD:0003284,Orphanet,101016,ORPHA:101016,13,HP:0005184,Prolonged QTc interval,Obligate (100%),TAS,,,,"[PMID:14136838, PMID:17192539, PMID:18606002, PMID:23511927, PMID:8058139]",y,y +GARD:0003284,Orphanet,101016,ORPHA:101016,13,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:14136838, PMID:17192539, PMID:18606002, PMID:23511927, PMID:8058139]",y,y +GARD:0003284,Orphanet,101016,ORPHA:101016,13,HP:0500018,Abnormal cardiac exercise stress test,Occasional (29-5%),TAS,,,,"[PMID:14136838, PMID:17192539, PMID:18606002, PMID:23511927, PMID:8058139]",y,y +GARD:0003287,Orphanet,168,ORPHA:168,3,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0003287,Orphanet,168,ORPHA:168,3,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003287,Orphanet,168,ORPHA:168,3,HP:0010721,Abnormal hair whorl,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000027,Azoospermia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000091,Abnormal renal tubule morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000121,Nephrocalcinosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000189,Narrow palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000230,Gingivitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000276,Long face,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000389,Chronic otitis media,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000557,Buphthalmos,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000615,Abnormal pupil morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000632,Lacrimation abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000646,Amblyopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000679,Taurodontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000704,Periodontitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000716,Depression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000722,Obsessive-compulsive behavior,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000733,Motor stereotypy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000739,Anxiety,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000843,Hyperparathyroidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000859,Hyperaldosteronism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000944,Abnormality of the metaphysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0000987,Atypical scarring of skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002002,Deep philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002024,Malabsorption,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002049,Proximal renal tubular acidosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002148,Hypophosphatemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002150,Hypercalciuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002151,Increased serum lactate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002169,Clonus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002749,Osteomalacia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002900,Hypokalemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002902,Hyponatremia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0003124,Hypercholesterolemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0005469,Flat occiput,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0007513,Generalized hypopigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0007731,Chorioretinal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0008069,Neoplasm of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0009804,Tooth agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0010471,Oligosacchariduria,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0010807,Open bite,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0011527,Lentiglobus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0100493,Hypoammonemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0100512,Low levels of vitamin D,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0100530,Abnormal calcium-phosphate regulating hormone level,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0100589,Urogenital fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0100612,Odontogenic neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0100716,Self-injurious behavior,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0100750,Atelectasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0100820,Glomerulopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0100825,Cheilitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0100835,Benign neoplasm of the central nervous system,Frequent (79-30%),TAS,,,,,y,y +GARD:0003295,Orphanet,534,ORPHA:534,120,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000078,Abnormality of the genital system,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000237,Small anterior fontanelle,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000243,Trigonocephaly,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000327,Hypoplasia of the maxilla,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000485,Megalocornea,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000577,Exotropia,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000680,Delayed eruption of primary teeth,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0001087,Developmental glaucoma,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0002012,Abnormality of the abdominal organs,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0003194,Short nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0004439,Craniofacial dysostosis,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0004554,Generalized hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0005211,Midgut malrotation,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0005442,Widely patent coronal suture,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0006695,Atrioventricular canal defect,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0008689,Bilateral cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0011087,Talon cusp,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0025247,Dermoid cyst,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003300,Orphanet,2409,ORPHA:2409,52,HP:0100538,Abnormality of the supraorbital ridges,Occasional (29-5%),TAS,,,,"[PMID:281275, PMID:7856667, PMID:9415481]",y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0000049,Shawl scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0000100,Nephrotic syndrome,Frequent (79-30%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0000807,Glandular hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0001877,Abnormal erythrocyte morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0001889,Megaloblastic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0004826,Folate-unresponsive megaloblastic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003303,Orphanet,2575,ORPHA:2575,18,HP:0005263,Gastritis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000053,Macroorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000678,Dental crowding,Occasional (29-5%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000709,Psychosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000738,Hallucinations,Occasional (29-5%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0001519,Disproportionate tall stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0001608,Abnormality of the voice,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0001611,Nasal speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0003307,Orphanet,776,ORPHA:776,34,HP:0100753,Schizophrenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0000751,Personality changes,Occasional (29-5%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003314,Orphanet,1173,ORPHA:1173,20,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0001055,Erysipelas,Frequent (79-30%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0001530,Mild postnatal growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0001541,Ascites,Frequent (79-30%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0001698,Pericardial effusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0001760,Abnormal foot morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0001789,Hydrops fetalis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0001888,Lymphopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0002021,Pyloric stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0002215,Sparse axillary hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0002901,Hypocalcemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0006521,Pulmonary lymphangiectasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0008572,External ear malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0010310,Chylothorax,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0011069,Supernumerary tooth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0011830,Abnormal oral mucosa morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0100026,Arteriovenous malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0100764,Lymphangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003318,Orphanet,2136,ORPHA:2136,51,HP:0100835,Benign neoplasm of the central nervous system,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0000008,Abnormal morphology of female internal genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0001000,Abnormality of skin pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0001004,Lymphedema,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0001945,Fever,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0002091,Restrictive ventilatory defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0002097,Emphysema,Frequent (79-30%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0002107,Pneumothorax,Frequent (79-30%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0002113,Pulmonary infiltrates,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0002205,Recurrent respiratory infections,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0006772,Renal angiomyolipoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0009594,Retinal hamartoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0009721,Shagreen patch,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0009726,Renal neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0010310,Chylothorax,Frequent (79-30%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0011852,Chylopericardium,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0012086,Abnormal urinary color,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0012733,Macule,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0012735,Cough,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0012798,Pulmonary lymphangiomyomatosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0100749,Chest pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0100750,Atelectasis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0100763,Abnormality of the lymphatic system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003319,Orphanet,538,ORPHA:538,36,HP:0100804,Ungual fibroma,Frequent (79-30%),TAS,,,,,y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0000031,Epididymitis,Very rare (<4-1%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0000034,Hydrocele testis,Occasional (29-5%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0000045,Abnormality of the scrotum,Occasional (29-5%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0000077,Abnormality of the kidney,Occasional (29-5%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0000093,Proteinuria,Very rare (<4-1%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0000099,Glomerulonephritis,Very rare (<4-1%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0000100,Nephrotic syndrome,Very rare (<4-1%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0000790,Hematuria,Very rare (<4-1%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0000796,Urethral obstruction,Very rare (<4-1%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0000962,Hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0001785,Ankle swelling,Very rare (<4-1%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0002088,Abnormal lung morphology,Occasional (29-5%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0002716,Lymphadenopathy,Very frequent (99-80%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0002840,Lymphadenitis,Frequent (79-30%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0003550,Predominantly lower limb lymphedema,Very frequent (99-80%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0005086,Knee osteoarthritis,Very rare (<4-1%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0008763,No social interaction,Very rare (<4-1%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0012224,Circulating immune complexes,Frequent (79-30%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0012531,Pain,Frequent (79-30%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0030828,Wheezing,Occasional (29-5%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0031690,Opportunistic infection,Occasional (29-5%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0031842,Lymphangiectasis,Occasional (29-5%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0032061,Hypereosinophilia,Frequent (79-30%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0032260,Opportunistic bacterial infection,Occasional (29-5%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0100673,Vaginal hydrocele,Occasional (29-5%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0100763,Abnormality of the lymphatic system,Very frequent (99-80%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003321,Orphanet,2035,ORPHA:2035,33,HP:0100796,Orchitis,Occasional (29-5%),TAS,,,,"[PMID:31027660, PMID:31312785]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0000282,Facial edema,Occasional (29-5%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0000987,Atypical scarring of skin,Frequent (79-30%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0002619,Varicose veins,Occasional (29-5%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0002732,Lymph node hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0002849,Absence of lymph node germinal center,Frequent (79-30%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0003550,Predominantly lower limb lymphedema,Frequent (79-30%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0005406,Recurrent bacterial skin infections,Frequent (79-30%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0007514,Edema of the dorsum of hands,Occasional (29-5%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0010781,Skin dimple,Frequent (79-30%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0012027,Laryngeal edema,Occasional (29-5%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0012398,Peripheral edema,Occasional (29-5%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0031288,Cobblestone-like hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0100539,Periorbital edema,Occasional (29-5%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0100658,Cellulitis,Frequent (79-30%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0200041,Skin erosion,Frequent (79-30%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003324,Orphanet,90186,ORPHA:90186,21,HP:0200058,Angiosarcoma,Occasional (29-5%),TAS,,,,"[PMID:18197197, PMID:29132848, PMID:6679236, PMID:7747790]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0000091,Abnormal renal tubule morphology,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0000099,Glomerulonephritis,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0000824,Decreased response to growth hormone stimulation test,Very rare (<4-1%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001394,Cirrhosis,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001399,Hepatic failure,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001433,Hepatosplenomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001917,Renal amyloidosis,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001970,Tubulointerstitial nephritis,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0001987,Hyperammonemia,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0002154,Hyperglycinemia,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0002570,Steatorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0002718,Recurrent bacterial infections,Very rare (<4-1%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0002756,Pathologic fracture,Very rare (<4-1%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0003124,Hypercholesterolemia,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0003141,Increased LDL cholesterol concentration,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0003217,Hyperglutaminemia,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0003218,Oroticaciduria,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0003233,Decreased HDL cholesterol concentration,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0003268,Argininuria,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0003281,Increased circulating ferritin concentration,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0003297,Hyperlysinuria,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0003348,Hyperalaninemia,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0003493,Antinuclear antibody positivity,Very rare (<4-1%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0003532,Ornithinuria,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0004313,Decreased circulating antibody level,Very rare (<4-1%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0004431,Complement deficiency,Very rare (<4-1%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0005368,Abnormality of humoral immunity,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0006517,Intraalveolar phospholipid accumulation,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0008358,Hyperprolinemia,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0010702,Increased circulating antibody level,Very rare (<4-1%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0011424,Increased serum zinc,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0011900,Hypofibrinogenemia,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0011966,Elevated plasma citrulline,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0012156,Hemophagocytosis,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0012213,Decreased glomerular filtration rate,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0012278,Abnormal circulating serine concentration,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0012280,Hepatic amyloidosis,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0012523,Oral aversion,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0012578,Membranous nephropathy,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0030760,Renal fibrosis,Occasional (29-5%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0031020,Bone marrow hypercellularity,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003335,Orphanet,470,ORPHA:470,65,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:20301535, PMID:28057010, PMID:4158034, PMID:6076999, PMID:7204568, PMID:8163273]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000073,Ureteral duplication,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000105,Enlarged kidney,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000150,Gonadoblastoma,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000239,Large fontanelles,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000260,Wide anterior fontanel,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000269,Prominent occiput,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000329,Facial hemangioma,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000362,Otosclerosis,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000363,Abnormal earlobe morphology,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000852,Pseudohypoparathyroidism,Very rare (<4-1%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0000995,Melanocytic nevus,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001052,Nevus flammeus,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001139,Choroideremia,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001520,Large for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001528,Hemihypertrophy,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001539,Omphalocele,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001540,Diastasis recti,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001582,Redundant skin,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001738,Exocrine pancreatic insufficiency,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001901,Polycythemia,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0001998,Neonatal hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0002150,Hypercalciuria,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0002308,Chiari malformation,Very rare (<4-1%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0002664,Neoplasm,Very frequent (99-80%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0002667,Nephroblastoma,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0002859,Rhabdomyosarcoma,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0002884,Hepatoblastoma,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0003006,Neuroblastoma,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0003271,Visceromegaly,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0005562,Multiple renal cysts,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0005616,Accelerated skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0006254,Elevated alpha-fetoprotein,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0006267,Large placenta,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0006744,Adrenocortical carcinoma,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0008186,Adrenocortical cytomegaly,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0008523,Posterior helix pit,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0008676,Congenital megaureter,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0009908,Anterior creases of earlobe,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0010535,Sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0012090,Abnormal pancreas morphology,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0012758,Neurodevelopmental delay,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0030255,Large intestinal polyposis,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0030720,Subchorionic septal cyst,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0100243,Leiomyosarcoma,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0100555,Asymmetric growth,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0100589,Urogenital fistula,Occasional (29-5%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0100876,Infra-orbital crease,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003343,Orphanet,116,ORPHA:116,76,HP:0430026,Abnormality of the shape of the midface,Frequent (79-30%),TAS,,,,"[PMID:10755868, PMID:11124932, PMID:12584548, PMID:12970646, PMID:14231762, PMID:14568801, PMID:15580204, PMID:15811927, PMID:16370286, PMID:1872243, PMID:20301568, PMID:22015620, PMID:25085994, PMID:26367199, PMID:7604127, PMID:842515, PMID:9083309]",y,y +GARD:0003347,Orphanet,2435,ORPHA:2435,8,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003347,Orphanet,2435,ORPHA:2435,8,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003347,Orphanet,2435,ORPHA:2435,8,HP:0000995,Melanocytic nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003347,Orphanet,2435,ORPHA:2435,8,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003347,Orphanet,2435,ORPHA:2435,8,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0003347,Orphanet,2435,ORPHA:2435,8,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0003347,Orphanet,2435,ORPHA:2435,8,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003347,Orphanet,2435,ORPHA:2435,8,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000046,Small scrotum,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000356,Abnormality of the outer ear,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000403,Recurrent otitis media,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000646,Amblyopia,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000685,Hypoplasia of teeth,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000687,Widely spaced teeth,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000691,Microdontia,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0001018,Abnormal palmar dermatoglyphics,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0012619,Multiple bladder diverticula,Frequent (79-30%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0012768,Neonatal asphyxia,Frequent (79-30%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003348,Orphanet,2728,ORPHA:2728,26,HP:0030148,Heart murmur,Very frequent (99-80%),TAS,,,,"[PMID:16700052, PMID:3723552, PMID:8279489]",y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000187,Broad alveolar ridges,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000277,Abnormal mandible morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000298,Mask-like facies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000465,Webbed neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0001357,Plagiocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0001557,Prenatal movement abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0001611,Nasal speech,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0001762,Talipes equinovarus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0001804,Hypoplastic fingernail,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0001812,Hyperconvex fingernails,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0001840,Metatarsus adductus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0002047,Malignant hyperthermia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0002263,Exaggerated cupid's bow,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0002804,Arthrogryposis multiplex congenita,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0005306,Capillary hemangioma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0005487,Prominent metopic ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0005988,Congenital muscular torticollis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0006288,Advanced eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0008402,Ridged fingernail,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0009465,Ulnar deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0009775,Amniotic constriction ring,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0010733,Naevus flammeus of the eyelid,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0011302,Long palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0012370,Prominence of the zygomatic bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0012400,Abnormal aldolase level,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0040036,Onychogryposis of fingernail,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0040081,Abnormal circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0045040,Abnormal lactate dehydrogenase level,Frequent (79-30%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0100556,Hemiatrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003361,Orphanet,2215,ORPHA:2215,63,HP:0100798,Fingernail dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003373,Orphanet,2229,ORPHA:2229,7,HP:0000147,Polycystic ovaries,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003373,Orphanet,2229,ORPHA:2229,7,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003373,Orphanet,2229,ORPHA:2229,7,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003373,Orphanet,2229,ORPHA:2229,7,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003373,Orphanet,2229,ORPHA:2229,7,HP:0000826,Precocious puberty,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003373,Orphanet,2229,ORPHA:2229,7,HP:0001644,Dilated cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003373,Orphanet,2229,ORPHA:2229,7,HP:0100362,Aplasia of the phalanges of the 3rd toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0000534,Abnormal eyebrow morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0000561,Absent eyelashes,Occasional (29-5%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0000855,Insulin resistance,Frequent (79-30%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0000953,Hyperpigmentation of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0000963,Thin skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0001870,Acroosteolysis of distal phalanges (feet),Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0002645,Wormian bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0002829,Arthralgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0003011,Abnormality of the musculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0004334,Dermal atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0005328,Progeroid facial appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0006710,Aplasia/Hypoplasia of the clavicles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0009839,Osteolytic defects of the distal phalanges of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0100679,Lack of skin elasticity,Occasional (29-5%),TAS,,,,,y,y +GARD:0003374,Orphanet,90153,ORPHA:90153,30,HP:0100783,Breast aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0001172,Abnormal thumb morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0001199,Triphalangeal thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0001646,Abnormal aortic valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0001680,Coarctation of aorta,Frequent (79-30%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0001772,Talipes equinovalgus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0002101,Abnormal lung lobation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0002414,Spina bifida,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0003422,Vertebral segmentation defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0006695,Atrioventricular canal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0006703,Aplasia/Hypoplasia of the lungs,Frequent (79-30%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0009623,Proximal placement of thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0009778,Short thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0009882,Short distal phalanx of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0010772,Anomalous pulmonary venous return,Frequent (79-30%),TAS,,,,,y,y +GARD:0003378,Orphanet,1120,ORPHA:1120,27,HP:0011039,Abnormal helix morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000289,Broad philtrum,Occasional (29-5%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000777,Abnormality of the thymus,Occasional (29-5%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000883,Thin ribs,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0001007,Hirsutism,Occasional (29-5%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0001519,Disproportionate tall stature,Very frequent (99-80%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0001833,Long foot,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0002750,Delayed skeletal maturation,Occasional (29-5%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0003100,Slender long bone,Very frequent (99-80%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0003393,Thenar muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0003782,Eunuchoid habitus,Very frequent (99-80%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0006086,Thin metacarpal cortices,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0008050,Abnormality of the palpebral fissures,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0008078,Thin metatarsal cortices,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0008439,Lumbar hemivertebrae,Occasional (29-5%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0009002,Loss of truncal subcutaneous adipose tissue,Occasional (29-5%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0009004,Hypoplasia of the musculature,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0009929,Abnormality of the columella,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0010487,Small hypothenar eminence,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0011822,Broad chin,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0011849,Abnormal bone ossification,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0012157,Subcortical cerebral atrophy,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0012771,Increased arm span,Very frequent (99-80%),TAS,,,,[PMID:6705253],y,y +GARD:0003388,Orphanet,2463,ORPHA:2463,43,HP:0100579,Mucosal telangiectasiae,Occasional (29-5%),TAS,,,,[PMID:6705253],y,y +GARD:0003390,Orphanet,444,ORPHA:444,5,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003390,Orphanet,444,ORPHA:444,5,HP:0002208,Coarse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003390,Orphanet,444,ORPHA:444,5,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003390,Orphanet,444,ORPHA:444,5,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003390,Orphanet,444,ORPHA:444,5,HP:0200102,Sparse or absent eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003395,Orphanet,2717,ORPHA:2717,10,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003395,Orphanet,2717,ORPHA:2717,10,HP:0000456,Bifid nasal tip,Occasional (29-5%),TAS,,,,,y,y +GARD:0003395,Orphanet,2717,ORPHA:2717,10,HP:0000528,Anophthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003395,Orphanet,2717,ORPHA:2717,10,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003395,Orphanet,2717,ORPHA:2717,10,HP:0000579,Nasolacrimal duct obstruction,Frequent (79-30%),TAS,,,,,y,y +GARD:0003395,Orphanet,2717,ORPHA:2717,10,HP:0000636,Upper eyelid coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003395,Orphanet,2717,ORPHA:2717,10,HP:0001126,Cryptophthalmos,Occasional (29-5%),TAS,,,,,y,y +GARD:0003395,Orphanet,2717,ORPHA:2717,10,HP:0001545,Anteriorly placed anus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003395,Orphanet,2717,ORPHA:2717,10,HP:0002025,Anal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003395,Orphanet,2717,ORPHA:2717,10,HP:0010720,Abnormal hair pattern,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003399,Orphanet,1423,ORPHA:1423,12,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,[PMID:10552065],y,y +GARD:0003399,Orphanet,1423,ORPHA:1423,12,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:10552065],y,y +GARD:0003399,Orphanet,1423,ORPHA:1423,12,HP:0000774,Narrow chest,Obligate (100%),TAS,,,,[PMID:10552065],y,y +GARD:0003399,Orphanet,1423,ORPHA:1423,12,HP:0000969,Edema,Frequent (79-30%),TAS,,,,[PMID:10552065],y,y +GARD:0003399,Orphanet,1423,ORPHA:1423,12,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,[PMID:10552065],y,y +GARD:0003399,Orphanet,1423,ORPHA:1423,12,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,[PMID:10552065],y,y +GARD:0003399,Orphanet,1423,ORPHA:1423,12,HP:0002983,Micromelia,Frequent (79-30%),TAS,,,,[PMID:10552065],y,y +GARD:0003399,Orphanet,1423,ORPHA:1423,12,HP:0003026,Short long bone,Obligate (100%),TAS,,,,[PMID:10552065],y,y +GARD:0003399,Orphanet,1423,ORPHA:1423,12,HP:0003950,Flared elbow metaphyses,Obligate (100%),TAS,,,,[PMID:10552065],y,y +GARD:0003399,Orphanet,1423,ORPHA:1423,12,HP:0005616,Accelerated skeletal maturation,Obligate (100%),TAS,,,,[PMID:10552065],y,y +GARD:0003399,Orphanet,1423,ORPHA:1423,12,HP:0005789,Generalized osteosclerosis,Obligate (100%),TAS,,,,[PMID:10552065],y,y +GARD:0003399,Orphanet,1423,ORPHA:1423,12,HP:0009826,Limb undergrowth,Obligate (100%),TAS,,,,[PMID:10552065],y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0000221,Furrowed tongue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0000692,Tooth malposition,Frequent (79-30%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0001155,Abnormality of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0008388,Abnormal toenail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0008872,Feeding difficulties in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0009465,Ulnar deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0009738,Abnormal antihelix morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0009832,Abnormal distal phalanx morphology of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003406,Orphanet,1387,ORPHA:1387,30,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000270,Delayed cranial suture closure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000336,Prominent supraorbital ridges,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0001025,Urticaria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0002615,Hypotension,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0003189,Long nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0011344,Severe global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0012733,Macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0100326,Immunologic hypersensitivity,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0100495,Mastocytosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0100585,Telangiectasia of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0100725,Lichenification,Occasional (29-5%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0200034,Papule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003409,Orphanet,2135,ORPHA:2135,52,HP:0200037,Skin vesicle,Occasional (29-5%),TAS,,,,,y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0000286,Epicanthus,Very rare (<4-1%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0000340,Sloping forehead,Very rare (<4-1%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0000601,Hypotelorism,Very rare (<4-1%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0001156,Brachydactyly,Very rare (<4-1%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0001488,Bilateral ptosis,Very rare (<4-1%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0001627,Abnormal heart morphology,Very frequent (99-80%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0001680,Coarctation of aorta,Frequent (79-30%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0001719,Double outlet right ventricle,Occasional (29-5%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0002032,Esophageal atresia,Very rare (<4-1%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0002836,Bladder exstrophy,Very rare (<4-1%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0004383,Hypoplastic left heart,Frequent (79-30%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0004411,Deviated nasal septum,Very rare (<4-1%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0008589,Hypoplastic helices,Very rare (<4-1%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0009611,Bifid distal phalanx of the thumb,Very rare (<4-1%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0012210,Abnormal renal morphology,Very rare (<4-1%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003413,Orphanet,2209,ORPHA:2209,32,HP:0030084,Clinodactyly,Very rare (<4-1%),TAS,,,,"[PMID:10636975, PMID:11328945, PMID:14654657, PMID:1481837, PMID:1915502, PMID:22205310, PMID:23784316, PMID:30244725, PMID:4968669, PMID:5391176, PMID:8648535, PMID:9066890]",y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000336,Prominent supraorbital ridges,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000689,Dental malocclusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0004326,Cachexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0010807,Open bite,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0012745,Short palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003424,Orphanet,2471,ORPHA:2471,27,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003426,Orphanet,168624,ORPHA:168624,14,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003426,Orphanet,168624,ORPHA:168624,14,HP:0000243,Trigonocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003426,Orphanet,168624,ORPHA:168624,14,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003426,Orphanet,168624,ORPHA:168624,14,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003426,Orphanet,168624,ORPHA:168624,14,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003426,Orphanet,168624,ORPHA:168624,14,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003426,Orphanet,168624,ORPHA:168624,14,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003426,Orphanet,168624,ORPHA:168624,14,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003426,Orphanet,168624,ORPHA:168624,14,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,,y,y +GARD:0003426,Orphanet,168624,ORPHA:168624,14,HP:0001770,Toe syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003426,Orphanet,168624,ORPHA:168624,14,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003426,Orphanet,168624,ORPHA:168624,14,HP:0010059,Broad hallux phalanx,Occasional (29-5%),TAS,,,,,y,y +GARD:0003426,Orphanet,168624,ORPHA:168624,14,HP:0010807,Open bite,Frequent (79-30%),TAS,,,,,y,y +GARD:0003426,Orphanet,168624,ORPHA:168624,14,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0000807,Glandular hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0001830,Postaxial foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0004383,Hypoplastic left heart,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0005916,Abnormal metacarpal morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0008368,Tarsal synostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0008678,Renal hypoplasia/aplasia,Very rare (<4-1%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0012227,Urethral stricture,Occasional (29-5%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0030010,Hydrometrocolpos,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003427,Orphanet,2473,ORPHA:2473,28,HP:0100779,Urogenital sinus anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0002744,Bilateral cleft lip and palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0004383,Hypoplastic left heart,Frequent (79-30%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0005469,Flat occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0010297,Bifid tongue,Occasional (29-5%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003430,Orphanet,2001,ORPHA:2001,15,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0000142,Abnormal vagina morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0000148,Vaginal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0000776,Congenital diaphragmatic hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0001669,Transposition of the great arteries,Occasional (29-5%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0001696,Situs inversus totalis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0001710,Conotruncal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0001743,Abnormality of the spleen,Occasional (29-5%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0002101,Abnormal lung lobation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0004383,Hypoplastic left heart,Frequent (79-30%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0004736,Crossed fused renal ectopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0010772,Anomalous pulmonary venous return,Occasional (29-5%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0011027,Abnormal fallopian tube morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0030010,Hydrometrocolpos,Frequent (79-30%),TAS,,,,,y,y +GARD:0003432,Orphanet,3097,ORPHA:3097,25,HP:0100632,Pulmonary sequestration,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000003,Multicystic kidney dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000037,Male pseudohermaphroditism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000068,Urethral atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000073,Ureteral duplication,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000221,Furrowed tongue,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000528,Anophthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000532,Abnormal chorioretinal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000647,Sclerocornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0001696,Situs inversus totalis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0001737,Pancreatic cysts,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0001746,Asplenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0001747,Accessory spleen,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0001830,Postaxial foot polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0001883,Talipes,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0002084,Encephalocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0002323,Anencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0002612,Congenital hepatic fibrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0006706,Cystic liver disease,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0006870,Lobar holoprosencephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0008053,Aplasia/Hypoplasia of the iris,Frequent (79-30%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0010295,Aplasia/Hypoplasia of the tongue,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0010459,True hermaphroditism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003436,Orphanet,564,ORPHA:564,45,HP:0100732,Pancreatic fibrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003438,Orphanet,2476,ORPHA:2476,9,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003438,Orphanet,2476,ORPHA:2476,9,HP:0001543,Gastroschisis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003438,Orphanet,2476,ORPHA:2476,9,HP:0001629,Ventricular septal defect,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003438,Orphanet,2476,ORPHA:2476,9,HP:0002323,Anencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003438,Orphanet,2476,ORPHA:2476,9,HP:0002414,Spina bifida,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003438,Orphanet,2476,ORPHA:2476,9,HP:0004383,Hypoplastic left heart,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003438,Orphanet,2476,ORPHA:2476,9,HP:0004397,Ectopic anus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003438,Orphanet,2476,ORPHA:2476,9,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003438,Orphanet,2476,ORPHA:2476,9,HP:0100335,Non-midline cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0000161,Median cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0000190,Abnormal oral frenulum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0002084,Encephalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0004122,Midline defect of the nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0006866,Midline central nervous system lipomas,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0010609,Skin tags,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003439,Orphanet,1993,ORPHA:1993,16,HP:0100582,Nasal polyposis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0000021,Megacystis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0000072,Hydroureter,Frequent (79-30%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0001522,Death in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0002566,Intestinal malrotation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0004388,Microcolon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0011024,Abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0100544,Neoplasm of the heart,Occasional (29-5%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0100771,Hypoperistalsis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003442,Orphanet,2241,ORPHA:2241,17,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0000021,Megacystis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0000072,Hydroureter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0000076,Vesicoureteral reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0000311,Round face,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0000843,Hyperparathyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0001166,Arachnodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0001798,Anonychia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0003363,Abdominal situs inversus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Frequent (79-30%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003443,Orphanet,2604,ORPHA:2604,23,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000194,Open mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000232,Everted lower lip vermilion,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000485,Megalocornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000593,Abnormal anterior chamber morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000733,Motor stereotypy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000821,Hypothyroidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0003124,Hypercholesterolemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0007676,Hypoplasia of the iris,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0009891,Underdeveloped supraorbital ridges,Occasional (29-5%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0010508,Metatarsus valgus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003448,Orphanet,2479,ORPHA:2479,41,HP:0100693,Iridodonesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003449,Orphanet,3038,ORPHA:3038,14,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003449,Orphanet,3038,ORPHA:3038,14,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003449,Orphanet,3038,ORPHA:3038,14,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003449,Orphanet,3038,ORPHA:3038,14,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003449,Orphanet,3038,ORPHA:3038,14,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003449,Orphanet,3038,ORPHA:3038,14,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0003449,Orphanet,3038,ORPHA:3038,14,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003449,Orphanet,3038,ORPHA:3038,14,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0003449,Orphanet,3038,ORPHA:3038,14,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003449,Orphanet,3038,ORPHA:3038,14,HP:0000577,Exotropia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003449,Orphanet,3038,ORPHA:3038,14,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003449,Orphanet,3038,ORPHA:3038,14,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0003449,Orphanet,3038,ORPHA:3038,14,HP:0007946,Unilateral narrow palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003449,Orphanet,3038,ORPHA:3038,14,HP:0009908,Anterior creases of earlobe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003451,Orphanet,2196,ORPHA:2196,11,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003451,Orphanet,2196,ORPHA:2196,11,HP:0000112,Nephropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003451,Orphanet,2196,ORPHA:2196,11,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003451,Orphanet,2196,ORPHA:2196,11,HP:0000567,Chorioretinal coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003451,Orphanet,2196,ORPHA:2196,11,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003451,Orphanet,2196,ORPHA:2196,11,HP:0000787,Nephrolithiasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003451,Orphanet,2196,ORPHA:2196,11,HP:0000790,Hematuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0003451,Orphanet,2196,ORPHA:2196,11,HP:0001116,Macular coloboma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003451,Orphanet,2196,ORPHA:2196,11,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003451,Orphanet,2196,ORPHA:2196,11,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003451,Orphanet,2196,ORPHA:2196,11,HP:0100530,Abnormal calcium-phosphate regulating hormone level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003460,Orphanet,618,ORPHA:618,11,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003460,Orphanet,618,ORPHA:618,11,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0003460,Orphanet,618,ORPHA:618,11,HP:0001480,Freckling,Frequent (79-30%),TAS,,,,,y,y +GARD:0003460,Orphanet,618,ORPHA:618,11,HP:0001595,Abnormal hair morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003460,Orphanet,618,ORPHA:618,11,HP:0002071,Abnormality of extrapyramidal motor function,Occasional (29-5%),TAS,,,,,y,y +GARD:0003460,Orphanet,618,ORPHA:618,11,HP:0002861,Melanoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003460,Orphanet,618,ORPHA:618,11,HP:0002894,Neoplasm of the pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0003460,Orphanet,618,ORPHA:618,11,HP:0003764,Nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003460,Orphanet,618,ORPHA:618,11,HP:0006753,Neoplasm of the stomach,Occasional (29-5%),TAS,,,,,y,y +GARD:0003460,Orphanet,618,ORPHA:618,11,HP:0100013,Neoplasm of the breast,Occasional (29-5%),TAS,,,,,y,y +GARD:0003460,Orphanet,618,ORPHA:618,11,HP:0100763,Abnormality of the lymphatic system,Frequent (79-30%),TAS,,,,,y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0000528,Anophthalmia,Very frequent (99-80%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0000653,Sparse eyelashes,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0000687,Widely spaced teeth,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0000691,Microdontia,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0002006,Facial cleft,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0005288,Abnormality of the nares,Very frequent (99-80%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0006315,Solitary median maxillary central incisor,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0009891,Underdeveloped supraorbital ridges,Very frequent (99-80%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0009912,Abnormal tragus morphology,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0010806,U-Shaped upper lip vermilion,Occasional (29-5%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0012639,Abnormal nervous system morphology,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,[PMID:8266999],y,y +GARD:0003480,Orphanet,66625,ORPHA:66625,27,HP:0100729,Large face,Very frequent (99-80%),TAS,,,,[PMID:8266999],y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0000765,Abnormal thorax morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0002006,Facial cleft,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0002558,Supernumerary nipple,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0009748,Large earlobe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0010751,Dimple chin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0100267,Lip pit,Frequent (79-30%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003482,Orphanet,1236,ORPHA:1236,32,HP:0100720,Hypoplasia of the ear cartilage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0000689,Dental malocclusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0001671,Abnormal cardiac septum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0002644,Abnormality of pelvic girdle bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0002648,Abnormality of calvarial morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0004422,Biparietal narrowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0008407,Hyperconvex thumb nails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0008425,Cuboid-shaped thoracolumbar vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003485,Orphanet,3079,ORPHA:3079,30,HP:0010807,Open bite,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003491,Orphanet,2139,ORPHA:2139,10,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003491,Orphanet,2139,ORPHA:2139,10,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003491,Orphanet,2139,ORPHA:2139,10,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0003491,Orphanet,2139,ORPHA:2139,10,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003491,Orphanet,2139,ORPHA:2139,10,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,,y,y +GARD:0003491,Orphanet,2139,ORPHA:2139,10,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003491,Orphanet,2139,ORPHA:2139,10,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003491,Orphanet,2139,ORPHA:2139,10,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003491,Orphanet,2139,ORPHA:2139,10,HP:0002002,Deep philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003491,Orphanet,2139,ORPHA:2139,10,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0000219,Thin upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0000430,Underdeveloped nasal alae,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0000455,Broad nasal tip,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0002144,Tethered cord,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0002188,Delayed CNS myelination,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0002465,Poor speech,Very frequent (99-80%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0008936,Axial hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0009765,Low hanging columella,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0025160,Abnormal temper tantrums,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003505,Orphanet,404473,ORPHA:404473,32,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:23033978, PMID:24614104, PMID:25326669]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0000053,Macroorchidism,Very frequent (99-80%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0000718,Aggressive behavior,Very frequent (99-80%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0000737,Irritability,Very frequent (99-80%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0000752,Hyperactivity,Very frequent (99-80%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0001297,Stroke,Occasional (29-5%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0002136,Broad-based gait,Occasional (29-5%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0002322,Resting tremor,Occasional (29-5%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0002362,Shuffling gait,Occasional (29-5%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0006801,Hyperactive deep tendon reflexes,Very frequent (99-80%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0006919,"Abnormal aggressive, impulsive or violent behavior",Frequent (79-30%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0007302,Bipolar affective disorder,Frequent (79-30%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0011188,Focal EEG discharges with secondary generalization,Frequent (79-30%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0025403,Stooped posture,Occasional (29-5%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003506,Orphanet,3077,ORPHA:3077,27,HP:0100852,Abnormal fear/anxiety-related behavior,Occasional (29-5%),TAS,,,,"[PMID:11885030, PMID:8651288]",y,y +GARD:0003514,Orphanet,3074,ORPHA:3074,9,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003514,Orphanet,3074,ORPHA:3074,9,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003514,Orphanet,3074,ORPHA:3074,9,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003514,Orphanet,3074,ORPHA:3074,9,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0003514,Orphanet,3074,ORPHA:3074,9,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003514,Orphanet,3074,ORPHA:3074,9,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0003514,Orphanet,3074,ORPHA:3074,9,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003514,Orphanet,3074,ORPHA:3074,9,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003514,Orphanet,3074,ORPHA:3074,9,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0000940,Abnormal diaphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0001373,Joint dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0001831,Short toe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0002673,Coxa valga,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0002823,Abnormality of femur morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0002970,Genu varum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0006059,Cone-shaped metacarpal epiphyses,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0010579,Cone-shaped epiphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0003519,Orphanet,1240,ORPHA:1240,24,HP:0012368,Flat face,Occasional (29-5%),TAS,,,,,y,y +GARD:0003520,Orphanet,1436,ORPHA:1436,9,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003520,Orphanet,1436,ORPHA:1436,9,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003520,Orphanet,1436,ORPHA:1436,9,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003520,Orphanet,1436,ORPHA:1436,9,HP:0002949,Fused cervical vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003520,Orphanet,1436,ORPHA:1436,9,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003520,Orphanet,1436,ORPHA:1436,9,HP:0005107,Abnormal sacrum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003520,Orphanet,1436,ORPHA:1436,9,HP:0005819,Short middle phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003520,Orphanet,1436,ORPHA:1436,9,HP:0005978,Type II diabetes mellitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003520,Orphanet,1436,ORPHA:1436,9,HP:0008467,Thoracic hemivertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003523,Orphanet,1891,ORPHA:1891,9,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003523,Orphanet,1891,ORPHA:1891,9,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003523,Orphanet,1891,ORPHA:1891,9,HP:0001258,Spastic paraplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003523,Orphanet,1891,ORPHA:1891,9,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003523,Orphanet,1891,ORPHA:1891,9,HP:0002817,Abnormality of the upper limb,Frequent (79-30%),TAS,,,,,y,y +GARD:0003523,Orphanet,1891,ORPHA:1891,9,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003523,Orphanet,1891,ORPHA:1891,9,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003523,Orphanet,1891,ORPHA:1891,9,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003523,Orphanet,1891,ORPHA:1891,9,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0000647,Sclerocornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0001840,Metatarsus adductus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0002300,Mutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0002381,Aphasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0002673,Coxa valga,Occasional (29-5%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0002812,Coxa vara,Occasional (29-5%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0002984,Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0002991,Abnormality of fibula morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0003022,Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0003070,Elbow ankylosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003524,Orphanet,2557,ORPHA:2557,33,HP:0010529,Echolalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0000179,Thick lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0000308,Microretrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0001176,Large hands,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0002242,Abnormal intestine morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0008559,Hypoplastic superior helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0003530,Orphanet,3080,ORPHA:3080,29,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003531,Orphanet,3057,ORPHA:3057,2,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003531,Orphanet,3057,ORPHA:3057,2,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0000053,Macroorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0000336,Prominent supraorbital ridges,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0001593,Maxillary lateral incisor microdontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003537,Orphanet,1193,ORPHA:1193,16,HP:0012471,Thick vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0000944,Abnormality of the metaphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0002101,Abnormal lung lobation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0003422,Vertebral segmentation defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0010781,Skin dimple,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003552,Orphanet,2631,ORPHA:2631,17,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003553,Orphanet,2632,ORPHA:2632,13,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003553,Orphanet,2632,ORPHA:2632,13,HP:0001191,Abnormal carpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003553,Orphanet,2632,ORPHA:2632,13,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003553,Orphanet,2632,ORPHA:2632,13,HP:0002997,Abnormality of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003553,Orphanet,2632,ORPHA:2632,13,HP:0003067,Madelung deformity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003553,Orphanet,2632,ORPHA:2632,13,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003553,Orphanet,2632,ORPHA:2632,13,HP:0005026,Mesomelic/rhizomelic limb shortening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003553,Orphanet,2632,ORPHA:2632,13,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003553,Orphanet,2632,ORPHA:2632,13,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003553,Orphanet,2632,ORPHA:2632,13,HP:0006492,Aplasia/Hypoplasia of the fibula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003553,Orphanet,2632,ORPHA:2632,13,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003553,Orphanet,2632,ORPHA:2632,13,HP:0009465,Ulnar deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003553,Orphanet,2632,ORPHA:2632,13,HP:0100864,Short femoral neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0002970,Genu varum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0002974,Radioulnar synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0002991,Abnormality of fibula morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0002992,Abnormality of tibia morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0002997,Abnormality of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0003019,Abnormality of the wrist,Occasional (29-5%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0008368,Tarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0008845,Mesomelic short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0010781,Skin dimple,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003554,Orphanet,2633,ORPHA:2633,26,HP:0100729,Large face,Occasional (29-5%),TAS,,,,,y,y +GARD:0003555,Orphanet,2634,ORPHA:2634,13,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003555,Orphanet,2634,ORPHA:2634,13,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003555,Orphanet,2634,ORPHA:2634,13,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003555,Orphanet,2634,ORPHA:2634,13,HP:0002992,Abnormality of tibia morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003555,Orphanet,2634,ORPHA:2634,13,HP:0002997,Abnormality of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003555,Orphanet,2634,ORPHA:2634,13,HP:0003022,Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003555,Orphanet,2634,ORPHA:2634,13,HP:0003038,Fibular hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003555,Orphanet,2634,ORPHA:2634,13,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003555,Orphanet,2634,ORPHA:2634,13,HP:0003048,Radial head subluxation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003555,Orphanet,2634,ORPHA:2634,13,HP:0003498,Disproportionate short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003555,Orphanet,2634,ORPHA:2634,13,HP:0005048,Synostosis of carpal bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0003555,Orphanet,2634,ORPHA:2634,13,HP:0009465,Ulnar deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003555,Orphanet,2634,ORPHA:2634,13,HP:0010781,Skin dimple,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003560,Orphanet,2499,ORPHA:2499,7,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003560,Orphanet,2499,ORPHA:2499,7,HP:0002653,Bone pain,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003560,Orphanet,2499,ORPHA:2499,7,HP:0005701,Multiple enchondromatosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003560,Orphanet,2499,ORPHA:2499,7,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003560,Orphanet,2499,ORPHA:2499,7,HP:0006824,Cranial nerve paralysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003560,Orphanet,2499,ORPHA:2499,7,HP:0010885,Avascular necrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003560,Orphanet,2499,ORPHA:2499,7,HP:0100777,Exostoses,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003562,Orphanet,1040,ORPHA:1040,9,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003562,Orphanet,1040,ORPHA:1040,9,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003562,Orphanet,1040,ORPHA:1040,9,HP:0002814,Abnormality of the lower limb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003562,Orphanet,1040,ORPHA:1040,9,HP:0002997,Abnormality of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003562,Orphanet,1040,ORPHA:1040,9,HP:0004039,Abnormality of ulnar metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003562,Orphanet,1040,ORPHA:1040,9,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003562,Orphanet,1040,ORPHA:1040,9,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003562,Orphanet,1040,ORPHA:1040,9,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003562,Orphanet,1040,ORPHA:1040,9,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0001385,Hip dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0002970,Genu varum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0003307,Hyperlordosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0003498,Disproportionate short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0005871,Metaphyseal chondrodysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0005930,Abnormality of epiphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0006385,Short lower limbs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0006409,Progressive leg bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003563,Orphanet,2501,ORPHA:2501,17,HP:0100255,Metaphyseal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0001169,Broad palm,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0001769,Broad foot,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0001964,Aplasia/Hypoplasia of metatarsal bones,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0002868,Narrow iliac wing,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0002979,Bowing of the legs,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0003015,Flared metaphysis,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0003016,Metaphyseal widening,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0003085,Long fibula,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0005899,Metaphyseal dysostosis,Very frequent (99-80%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0006009,Broad phalanx,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0006413,Broad tibial metaphyses,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0006417,Broad femoral metaphyses,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0008110,Equinovarus deformity,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0008873,Disproportionate short-limb short stature,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0009760,Antecubital pterygium,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0100255,Metaphyseal dysplasia,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003566,Orphanet,2502,ORPHA:2502,27,HP:0100864,Short femoral neck,Frequent (79-30%),TAS,,,,[PMID:5173335],y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0002826,Halberd-shaped pelvis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0003336,Abnormal enchondral ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0005108,Abnormal intervertebral disk morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0006703,Aplasia/Hypoplasia of the lungs,Occasional (29-5%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0008434,Hypoplastic cervical vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0100670,Coarse metaphyseal trabecularization,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003571,Orphanet,2635,ORPHA:2635,26,HP:0100818,Long thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003573,Orphanet,1923,ORPHA:1923,13,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0003573,Orphanet,1923,ORPHA:1923,13,HP:0000453,Choanal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003573,Orphanet,1923,ORPHA:1923,13,HP:0000820,Abnormality of the thyroid gland,Frequent (79-30%),TAS,,,,,y,y +GARD:0003573,Orphanet,1923,ORPHA:1923,13,HP:0000821,Hypothyroidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003573,Orphanet,1923,ORPHA:1923,13,HP:0001362,Calvarial skull defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0003573,Orphanet,1923,ORPHA:1923,13,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003573,Orphanet,1923,ORPHA:1923,13,HP:0001561,Polyhydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003573,Orphanet,1923,ORPHA:1923,13,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0003573,Orphanet,1923,ORPHA:1923,13,HP:0001679,Abnormal aortic morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003573,Orphanet,1923,ORPHA:1923,13,HP:0001680,Coarctation of aorta,Frequent (79-30%),TAS,,,,,y,y +GARD:0003573,Orphanet,1923,ORPHA:1923,13,HP:0002032,Esophageal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003573,Orphanet,1923,ORPHA:1923,13,HP:0002575,Tracheoesophageal fistula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003573,Orphanet,1923,ORPHA:1923,13,HP:0100589,Urogenital fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0003575,Orphanet,1917,ORPHA:1917,5,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003575,Orphanet,1917,ORPHA:1917,5,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003575,Orphanet,1917,ORPHA:1917,5,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003575,Orphanet,1917,ORPHA:1917,5,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003575,Orphanet,1917,ORPHA:1917,5,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001159,Syndactyly,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001262,Excessive daytime somnolence,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001907,Thromboembolism,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001972,Macrocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0001980,Megaloblastic bone marrow,Very frequent (99-80%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0002160,Hyperhomocystinemia,Very frequent (99-80%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0002329,Drowsiness,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0002365,Hypoplasia of the brainstem,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0002625,Deep venous thrombosis,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0003658,Hypomethioninemia,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0005518,Increased mean corpuscular volume,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0005575,Hemolytic-uremic syndrome,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0006895,Lower limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0007185,Loss of consciousness,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0012444,Brain atrophy,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0012448,Delayed myelination,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0012704,Widened subarachnoid space,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0030084,Clinodactyly,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003576,Orphanet,2169,ORPHA:2169,50,HP:0100820,Glomerulopathy,Occasional (29-5%),TAS,,,,"[PMID:15714522, PMID:20301503, PMID:25526710, PMID:9427140]",y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0000488,Retinopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0000646,Amblyopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0001980,Megaloblastic bone marrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003579,Orphanet,26,ORPHA:26,18,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0003582,Orphanet,79283,ORPHA:79283,12,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003582,Orphanet,79283,ORPHA:79283,12,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003582,Orphanet,79283,ORPHA:79283,12,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003582,Orphanet,79283,ORPHA:79283,12,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003582,Orphanet,79283,ORPHA:79283,12,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003582,Orphanet,79283,ORPHA:79283,12,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003582,Orphanet,79283,ORPHA:79283,12,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003582,Orphanet,79283,ORPHA:79283,12,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003582,Orphanet,79283,ORPHA:79283,12,HP:0001980,Megaloblastic bone marrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003582,Orphanet,79283,ORPHA:79283,12,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003582,Orphanet,79283,ORPHA:79283,12,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003582,Orphanet,79283,ORPHA:79283,12,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0000122,Unilateral renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0000206,Glossitis,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0001627,Abnormal heart morphology,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0001889,Megaloblastic anemia,Very frequent (99-80%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0002160,Hyperhomocystinemia,Very frequent (99-80%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0003145,Decreased adenosylcobalamin,Very frequent (99-80%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0003223,Decreased methylcobalamin,Very frequent (99-80%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0003658,Hypomethioninemia,Excluded (0%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0006571,Reduced number of intrahepatic bile ducts,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0010280,Stomatitis,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0012120,Methylmalonic aciduria,Very frequent (99-80%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0030746,Intraventricular hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0031544,Elevated circulating palmitoleylcarnitine concentration,Very frequent (99-80%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003584,Orphanet,79284,ORPHA:79284,28,HP:0100502,Vitamin B12 deficiency,Very frequent (99-80%),TAS,,,,"[PMID:20301503, PMID:21910240]",y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001259,Coma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001882,Leukopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001944,Dehydration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001972,Macrocytic anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0001987,Hyperammonemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0002273,Tetraparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0002385,Paraparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003586,Orphanet,27,ORPHA:27,25,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003588,Orphanet,29,ORPHA:29,17,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000045,Abnormality of the scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000046,Small scrotum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000271,Abnormality of the face,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000368,"Low-set, posteriorly rotated ears",Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0003011,Abnormality of the musculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0006768,Localized neuroblastoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0007400,Irregular hyperpigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0007522,Increased number of skin folds,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0008572,External ear malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0003589,Orphanet,2505,ORPHA:2505,30,HP:0100560,Upper limb asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000270,Delayed cranial suture closure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000275,Narrow face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000364,Hearing abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000446,Narrow nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000598,Abnormality of the ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0001167,Abnormality of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0001172,Abnormal thumb morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0003019,Abnormality of the wrist,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0003172,Abnormality of the pubic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0005469,Flat occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0008818,Large iliac wing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0009721,Shagreen patch,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0009891,Underdeveloped supraorbital ridges,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0010579,Cone-shaped epiphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0010668,Abnormal zygomatic bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003596,Orphanet,2511,ORPHA:2511,36,HP:0100333,Unilateral cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0002850,Decreased circulating total IgM,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0004315,Decreased circulating IgG level,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003602,Orphanet,2643,ORPHA:2643,18,HP:0006297,Enamel hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003604,Orphanet,2513,ORPHA:2513,7,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003604,Orphanet,2513,ORPHA:2513,7,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003604,Orphanet,2513,ORPHA:2513,7,HP:0001010,Hypopigmentation of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003604,Orphanet,2513,ORPHA:2513,7,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003604,Orphanet,2513,ORPHA:2513,7,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003604,Orphanet,2513,ORPHA:2513,7,HP:0010185,Aplasia/Hypoplasia of the distal phalanges of the toes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003604,Orphanet,2513,ORPHA:2513,7,HP:0025356,Psychomotor retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003605,Orphanet,2514,ORPHA:2514,6,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003605,Orphanet,2514,ORPHA:2514,6,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0003605,Orphanet,2514,ORPHA:2514,6,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003605,Orphanet,2514,ORPHA:2514,6,HP:0001137,Alternating esotropia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003605,Orphanet,2514,ORPHA:2514,6,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003605,Orphanet,2514,ORPHA:2514,6,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003607,Orphanet,2523,ORPHA:2523,6,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003607,Orphanet,2523,ORPHA:2523,6,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003607,Orphanet,2523,ORPHA:2523,6,HP:0001360,Holoprosencephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003607,Orphanet,2523,ORPHA:2523,6,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003607,Orphanet,2523,ORPHA:2523,6,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003607,Orphanet,2523,ORPHA:2523,6,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0000356,Abnormality of the outer ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0001644,Dilated cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0007703,Abnormality of retinal pigmentation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003609,Orphanet,2515,ORPHA:2515,15,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0000069,Abnormality of the ureter,Frequent (79-30%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0000889,Abnormal clavicle morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0002176,Spinal cord compression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0002949,Fused cervical vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0003307,Hyperlordosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0004312,Abnormal reticulocyte morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0010620,Malar prominence,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003610,Orphanet,2522,ORPHA:2522,26,HP:0012371,Hyperplasia of midface,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003615,Orphanet,2172,ORPHA:2172,11,HP:0000099,Glomerulonephritis,Frequent (79-30%),TAS,,,,[PMID:1345513],y,y +GARD:0003615,Orphanet,2172,ORPHA:2172,11,HP:0000218,High palate,Frequent (79-30%),TAS,,,,[PMID:1345513],y,y +GARD:0003615,Orphanet,2172,ORPHA:2172,11,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,[PMID:1345513],y,y +GARD:0003615,Orphanet,2172,ORPHA:2172,11,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,[PMID:1345513],y,y +GARD:0003615,Orphanet,2172,ORPHA:2172,11,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,[PMID:1345513],y,y +GARD:0003615,Orphanet,2172,ORPHA:2172,11,HP:0001519,Disproportionate tall stature,Frequent (79-30%),TAS,,,,[PMID:1345513],y,y +GARD:0003615,Orphanet,2172,ORPHA:2172,11,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,[PMID:1345513],y,y +GARD:0003615,Orphanet,2172,ORPHA:2172,11,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,[PMID:1345513],y,y +GARD:0003615,Orphanet,2172,ORPHA:2172,11,HP:0002942,Thoracic kyphosis,Frequent (79-30%),TAS,,,,[PMID:1345513],y,y +GARD:0003615,Orphanet,2172,ORPHA:2172,11,HP:0011451,Primary microcephaly,Frequent (79-30%),TAS,,,,[PMID:1345513],y,y +GARD:0003615,Orphanet,2172,ORPHA:2172,11,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,[PMID:1345513],y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000307,Pointed chin,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000340,Sloping forehead,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000445,Wide nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000492,Abnormal eyelid morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000499,Abnormal eyelash morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000528,Anophthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000556,Retinal dystrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000587,Abnormality of the optic nerve,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000614,Abnormal nasolacrimal system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0000969,Edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001004,Lymphedema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001055,Erysipelas,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001595,Abnormal hair morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001820,Leukonychia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0001909,Leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0002202,Pleural effusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0003510,Severe short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0003552,Muscle stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0007731,Chorioretinal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0007973,Retinal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0008388,Abnormal toenail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0009891,Underdeveloped supraorbital ridges,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0010310,Chylothorax,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0012490,Panniculitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0040189,Scaling skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0100644,Melanonychia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0100658,Cellulitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,,y,y +GARD:0003622,Orphanet,2526,ORPHA:2526,67,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0000482,Microcornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0002191,Progressive spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003627,Orphanet,2528,ORPHA:2528,15,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0000483,Astigmatism,Frequent (79-30%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0000485,Megalocornea,Occasional (29-5%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0000519,Developmental cataract,Occasional (29-5%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0000662,Nyctalopia,Occasional (29-5%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0007695,Abnormal pupillary light reflex,Very frequent (99-80%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0007906,Ocular hypertension,Frequent (79-30%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0007990,Hypoplastic iris stroma,Very frequent (99-80%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0012040,Corneal stromal edema,Occasional (29-5%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0012047,Hemeralopia,Frequent (79-30%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0012108,Open angle glaucoma,Frequent (79-30%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0012805,Iris transillumination defect,Very frequent (99-80%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0031730,Axial myopia,Frequent (79-30%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003635,Orphanet,566,ORPHA:566,18,HP:0100018,Nuclear cataract,Frequent (79-30%),TAS,,,,"[PMID:21677884, PMID:33922078]",y,y +GARD:0003637,Orphanet,2536,ORPHA:2536,10,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003637,Orphanet,2536,ORPHA:2536,10,HP:0000311,Round face,Frequent (79-30%),TAS,,,,,y,y +GARD:0003637,Orphanet,2536,ORPHA:2536,10,HP:0000482,Microcornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003637,Orphanet,2536,ORPHA:2536,10,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003637,Orphanet,2536,ORPHA:2536,10,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003637,Orphanet,2536,ORPHA:2536,10,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003637,Orphanet,2536,ORPHA:2536,10,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003637,Orphanet,2536,ORPHA:2536,10,HP:0002688,Absent frontal sinuses,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003637,Orphanet,2536,ORPHA:2536,10,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,,y,y +GARD:0003637,Orphanet,2536,ORPHA:2536,10,HP:0100789,Torus palatinus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0000110,Renal dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0000143,Rectovaginal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0000528,Anophthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0001167,Abnormality of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0001331,Absent septum pellucidum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0001660,Truncus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0001743,Abnormality of the spleen,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0002032,Esophageal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0002036,Hiatus hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0002101,Abnormal lung lobation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0002139,Arrhinencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0002536,Abnormal cortical gyration,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0002818,Abnormality of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0003042,Elbow dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0003063,Abnormality of the humerus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0004050,Absent hand,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0004736,Crossed fused renal ectopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0004871,Perineal fistula,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0005988,Congenital muscular torticollis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0006660,Aplastic clavicle,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0009778,Short thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0009827,Amelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0009829,Phocomelia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0012165,Oligodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0025023,Rectal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0100257,Ectrodactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0100633,Esophagitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003640,Orphanet,2538,ORPHA:2538,48,HP:0100841,Microgastria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0000048,Bifid scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0002999,Patellar dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0004279,Short palm,Occasional (29-5%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0005792,Short humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003643,Orphanet,93328,ORPHA:93328,17,HP:0010034,Short 1st metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000218,High palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000482,Microcornea,Frequent (79-30%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000528,Anophthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000556,Retinal dystrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000647,Sclerocornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0000864,Abnormality of the hypothalamus-pituitary axis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0001830,Postaxial foot polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0002164,Nail dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0007068,Inferior cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003645,Orphanet,139471,ORPHA:139471,23,HP:0009623,Proximal placement of thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0000014,Abnormality of the bladder,Frequent (79-30%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0000072,Hydroureter,Frequent (79-30%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0001643,Patent ductus arteriosus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0009773,Symphalangism affecting the phalanges of the hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0010935,Abnormality of the upper urinary tract,Frequent (79-30%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003650,Orphanet,2547,ORPHA:2547,15,HP:0100867,Duodenal stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0000246,Sinusitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0000790,Hematuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0000965,Cutis marmorata,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0001701,Pericarditis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0001733,Pancreatitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0001933,Subcutaneous hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0002105,Hemoptysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0002239,Gastrointestinal hemorrhage,Frequent (79-30%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0002586,Peritonitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0002633,Vasculitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0004936,Venous thrombosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0005244,Gastrointestinal infarctions,Frequent (79-30%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0008046,Abnormal retinal vascular morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0012649,Increased inflammatory response,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0100520,Oliguria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0100534,Episcleritis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0100758,Gangrene,Occasional (29-5%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0100820,Glomerulopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003652,Orphanet,727,ORPHA:727,37,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0000078,Abnormality of the genital system,Occasional (29-5%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0000154,Wide mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0000202,Oral cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0000359,Abnormality of the inner ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0000413,Atresia of the external auditory canal,Frequent (79-30%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0001199,Triphalangeal thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0003778,Short mandibular rami,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0004452,Abnormality of the middle ear ossicles,Frequent (79-30%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0004467,Preauricular pit,Frequent (79-30%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0006511,Laryngeal stridor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0006695,Atrioventricular canal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0006703,Aplasia/Hypoplasia of the lungs,Occasional (29-5%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0008678,Renal hypoplasia/aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0008706,Distal urethral duplication,Frequent (79-30%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0009601,Aplasia/Hypoplasia of the thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0100335,Non-midline cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0003653,Orphanet,2549,ORPHA:2549,31,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0000024,Prostatitis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0000123,Nephritis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0000206,Glossitis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0000246,Sinusitis,Occasional (29-5%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0000491,Keratitis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0000572,Visual loss,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0000828,Abnormality of the parathyroid gland,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0000849,Adrenocortical abnormality,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0001080,Biliary tract abnormality,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0001096,Keratoconjunctivitis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0001733,Pancreatitis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0001743,Abnormality of the spleen,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0001944,Dehydration,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0002028,Chronic diarrhea,Frequent (79-30%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0002090,Pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0002254,Intermittent diarrhea,Frequent (79-30%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0002383,Infectious encephalitis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0002586,Peritonitis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0002754,Osteomyelitis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0002778,Abnormal tracheal morphology,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0002840,Lymphadenitis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0004326,Cachexia,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0005407,Decreased proportion of CD4-positive helper T cells,Frequent (79-30%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0005561,Abnormality of bone marrow cell morphology,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0008777,Abnormal vocal cord morphology,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0011027,Abnormal fallopian tube morphology,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0011277,Abnormality of the urinary system physiology,Occasional (29-5%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0011950,Bronchiolitis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0012115,Hepatitis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0012384,Rhinitis,Occasional (29-5%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0012387,Bronchitis,Occasional (29-5%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0012804,Corneal ulceration,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0012819,Myocarditis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0025439,Pharyngitis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0030049,Brain abscess,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0030126,Abnormality of the endometrium,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0030151,Cholangitis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0100584,Endocarditis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0100614,Myositis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0100646,Thyroiditis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0200036,Skin nodule,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003655,Orphanet,2552,ORPHA:2552,51,HP:0500006,Urethritis,Very rare (<4-1%),TAS,,,,"[PMID:20702053, PMID:24829239, PMID:26004651]",y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000035,Abnormal testis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000036,Abnormal penis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000037,Male pseudohermaphroditism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000039,Epispadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000363,Abnormal earlobe morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000492,Abnormal eyelid morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000499,Abnormal eyelash morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000528,Anophthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000556,Retinal dystrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000598,Abnormality of the ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000614,Abnormal nasolacrimal system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000627,Posterior embryotoxon,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000646,Amblyopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000647,Sclerocornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000776,Congenital diaphragmatic hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000953,Hyperpigmentation of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001053,Hypopigmented skin patches,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001331,Absent septum pellucidum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001644,Dilated cardiomyopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001704,Tricuspid valve prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0002034,Abnormal rectum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0002357,Dysphasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0004327,Abnormal vitreous humor morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0004334,Dermal atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0004378,Abnormality of the anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0007731,Chorioretinal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0007973,Retinal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0008665,Clitoral hypertrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0009939,Mandibular aplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0010529,Echolalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0011027,Abnormal fallopian tube morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0011265,Cleft earlobe,Occasional (29-5%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0011531,Vitritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003659,Orphanet,2556,ORPHA:2556,78,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0000177,Abnormality of upper lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0001339,Lissencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0001626,Abnormality of the cardiovascular system,Frequent (79-30%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003669,Orphanet,531,ORPHA:531,18,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0000091,Abnormal renal tubule morphology,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0000580,Pigmentary retinopathy,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0000597,Ophthalmoparesis,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0000816,Abnormality of Krebs cycle metabolism,Very frequent (99-80%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0001399,Hepatic failure,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0001644,Dilated cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002045,Hypothermia,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002094,Dyspnea,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002151,Increased serum lactate,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002483,Bulbar signs,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002490,Increased CSF lactate,Very frequent (99-80%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002572,Episodic vomiting,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0002883,Hyperventilation,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0003200,Ragged-red muscle fibers,Very rare (<4-1%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0003348,Hyperalaninemia,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0003481,Segmental peripheral demyelination/remyelination,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0003572,Low plasma citrulline,Very rare (<4-1%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0003648,Lacticaciduria,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0003737,Mitochondrial myopathy,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0004885,Episodic respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0007108,Demyelinating peripheral neuropathy,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0007183,Focal T2 hyperintense basal ganglia lesion,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0031434,Abnormal speech prosody,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0031546,Cardiac conduction abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0100611,Multiple glomerular cysts,Occasional (29-5%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003671,Orphanet,255210,ORPHA:255210,53,HP:0100660,Dyskinesia,Frequent (79-30%),TAS,,,,"[PMID:20301352, PMID:21402391, PMID:29101127]",y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0000649,Abnormality of visual evoked potentials,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0000762,Decreased nerve conduction velocity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0002194,Delayed gross motor development,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0003355,Aminoaciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0006887,"Intellectual disability, progressive",Very frequent (99-80%),TAS,,,,,y,y +GARD:0003681,Orphanet,1933,ORPHA:1933,23,HP:0012120,Methylmalonic aciduria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003682,Orphanet,2597,ORPHA:2597,9,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003682,Orphanet,2597,ORPHA:2597,9,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003682,Orphanet,2597,ORPHA:2597,9,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003682,Orphanet,2597,ORPHA:2597,9,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003682,Orphanet,2597,ORPHA:2597,9,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003682,Orphanet,2597,ORPHA:2597,9,HP:0003348,Hyperalaninemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003682,Orphanet,2597,ORPHA:2597,9,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003682,Orphanet,2597,ORPHA:2597,9,HP:0003737,Mitochondrial myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003682,Orphanet,2597,ORPHA:2597,9,HP:0004320,Vaginal fistula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0000829,Hypoparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001254,Lethargy,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001284,Areflexia,Very frequent (99-80%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001396,Cholestasis,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001653,Mitral regurgitation,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001712,Left ventricular hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0001985,Hypoketotic hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0002476,Primitive reflex,Very rare (<4-1%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0002901,Hypocalcemia,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0003201,Rhabdomyolysis,Very frequent (99-80%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0003324,Generalized muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0003546,Exercise intolerance,Very frequent (99-80%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0003756,Skeletal myopathy,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0005180,Tricuspid regurgitation,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0006555,Diffuse hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0007067,Distal peripheral sensory neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0007141,Sensorimotor neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0008110,Equinovarus deformity,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0008138,Equinus calcaneus,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0009063,Progressive distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0011808,Decreased patellar reflex,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0025145,Rigors,Very rare (<4-1%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003684,Orphanet,746,ORPHA:746,46,HP:0100626,Chronic hepatic failure,Frequent (79-30%),TAS,,,,"[PMID:12838198, PMID:1401059, PMID:1445348, PMID:19699128, PMID:19880769, PMID:28515471, PMID:28649548, PMID:28685493, PMID:875757]",y,y +GARD:0003690,Orphanet,1879,ORPHA:1879,7,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0003690,Orphanet,1879,ORPHA:1879,7,HP:0000951,Abnormality of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0003690,Orphanet,1879,ORPHA:1879,7,HP:0001012,Multiple lipomas,Occasional (29-5%),TAS,,,,,y,y +GARD:0003690,Orphanet,1879,ORPHA:1879,7,HP:0001482,Subcutaneous nodule,Occasional (29-5%),TAS,,,,,y,y +GARD:0003690,Orphanet,1879,ORPHA:1879,7,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003690,Orphanet,1879,ORPHA:1879,7,HP:0010001,Complete duplication of the distal phalanges of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003690,Orphanet,1879,ORPHA:1879,7,HP:0010739,Osteopoikilosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003693,Orphanet,3434,ORPHA:3434,11,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003693,Orphanet,3434,ORPHA:3434,11,HP:0000161,Median cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003693,Orphanet,3434,ORPHA:3434,11,HP:0000202,Oral cleft,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003693,Orphanet,3434,ORPHA:3434,11,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003693,Orphanet,3434,ORPHA:3434,11,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003693,Orphanet,3434,ORPHA:3434,11,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003693,Orphanet,3434,ORPHA:3434,11,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003693,Orphanet,3434,ORPHA:3434,11,HP:0001199,Triphalangeal thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0003693,Orphanet,3434,ORPHA:3434,11,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003693,Orphanet,3434,ORPHA:3434,11,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003693,Orphanet,3434,ORPHA:3434,11,HP:0001839,Split foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0000077,Abnormality of the kidney,Very rare (<4-1%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0000107,Renal cyst,Very rare (<4-1%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0000119,Abnormality of the genitourinary system,Very rare (<4-1%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0000825,Hyperinsulinemic hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0000831,Insulin-resistant diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0000956,Acanthosis nigricans,Excluded (0%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0001513,Obesity,Very rare (<4-1%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0001520,Large for gestational age,Occasional (29-5%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0001738,Exocrine pancreatic insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0001952,Glucose intolerance,Frequent (79-30%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0001953,Diabetic ketoacidosis,Excluded (0%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0001998,Neonatal hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0002594,Pancreatic hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0003074,Hyperglycemia,Frequent (79-30%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0003076,Glycosuria,Frequent (79-30%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0004924,Abnormal oral glucose tolerance,Frequent (79-30%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0008255,Transient neonatal diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0012028,Hepatocellular adenoma,Very rare (<4-1%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0025502,Overweight,Occasional (29-5%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0030057,Autoimmune antibody positivity,Excluded (0%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0030794,Abnormal C-peptide level,Frequent (79-30%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0040214,Abnormal insulin level,Frequent (79-30%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0040216,Hypoinsulinemia,Frequent (79-30%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003697,Orphanet,552,ORPHA:552,27,HP:0040217,Elevated hemoglobin A1c,Frequent (79-30%),TAS,,,,"[PMID:11575290, PMID:15784703, PMID:16369531, PMID:22701567, PMID:29792621, PMID:4212169]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0000182,Movement abnormality of the tongue,Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0000298,Mask-like facies,Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0000544,External ophthalmoplegia,Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0001167,Abnormality of finger,Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0001776,Bilateral talipes equinovarus,Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0002540,Inability to walk,Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0003477,Peripheral axonal neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0007108,Demyelinating peripheral neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0007209,Facial paralysis,Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0008000,Decreased corneal reflex,Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003698,Orphanet,2560,ORPHA:2560,15,HP:0045037,Abnormality of jaw muscles,Very frequent (99-80%),TAS,,,,"[PMID:204751, PMID:8905202]",y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000003,Multicystic kidney dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000161,Median cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000474,Thickened nuchal skin fold,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000776,Congenital diaphragmatic hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0000813,Bicornuate uterus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0001636,Tetralogy of Fallot,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0001804,Hypoplastic fingernail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0002089,Pulmonary hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0002247,Duodenal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0006709,Aplasia/Hypoplasia of the nipples,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0009882,Short distal phalanx of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0010804,Tented upper lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0012303,Abnormal aortic arch morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003699,Orphanet,2059,ORPHA:2059,51,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000050,Hypoplastic male external genitalia,Very rare (<4-1%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000161,Median cleft lip,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000190,Abnormal oral frenulum morphology,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000199,Tongue nodules,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000220,Velopharyngeal insufficiency,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000679,Taurodontia,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000685,Hypoplasia of teeth,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0000695,Natal tooth,Very rare (<4-1%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0001162,Postaxial hand polydactyly,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0001841,Preaxial foot polydactyly,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0002069,Bilateral tonic-clonic seizure,Very rare (<4-1%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0004987,Mesomelic leg shortening,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0005349,Hypoplasia of the epiglottis,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0005736,Short tibia,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0005873,Polysyndactyly of hallux,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0006042,Y-shaped metacarpals,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0006289,Agenesis of central incisor,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0006342,Peg-shaped maxillary lateral incisors,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0006695,Atrioventricular canal defect,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0007768,Central retinal vessel vascular tortuosity,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0009776,Adactyly,Very rare (<4-1%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0009826,Limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0010055,Broad hallux,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0010068,Broad first metatarsal,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0010100,Complete duplication of hallux phalanx,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0010230,Cone-shaped epiphyses of the phalanges of the hand,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0010297,Bifid tongue,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0011087,Talon cusp,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0011802,Hamartoma of tongue,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0011819,Submucous cleft soft palate,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0040019,Finger clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0100702,Arachnoid cyst,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0100874,Thick hair,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003701,Orphanet,2751,ORPHA:2751,49,HP:0410033,Unilateral alveolar cleft of maxilla,Occasional (29-5%),TAS,,,,"[PMID:10482880, PMID:10521839, PMID:17963220, PMID:23459408, PMID:27141300, PMID:27530628, PMID:3608220, PMID:5293864, PMID:6478638, PMID:8835325]",y,y +GARD:0003704,Orphanet,1433,ORPHA:1433,10,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003704,Orphanet,1433,ORPHA:1433,10,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003704,Orphanet,1433,ORPHA:1433,10,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003704,Orphanet,1433,ORPHA:1433,10,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,,y,y +GARD:0003704,Orphanet,1433,ORPHA:1433,10,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003704,Orphanet,1433,ORPHA:1433,10,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003704,Orphanet,1433,ORPHA:1433,10,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003704,Orphanet,1433,ORPHA:1433,10,HP:0008388,Abnormal toenail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003704,Orphanet,1433,ORPHA:1433,10,HP:0100804,Ungual fibroma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003704,Orphanet,1433,ORPHA:1433,10,HP:0200102,Sparse or absent eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003707,Orphanet,2564,ORPHA:2564,2,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003707,Orphanet,2564,ORPHA:2564,2,HP:0012165,Oligodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000009,Functional abnormality of the bladder,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000076,Vesicoureteral reflux,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000219,Thin upper lip vermilion,Frequent (79-30%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000248,Brachycephaly,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000319,Smooth philtrum,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000325,Triangular face,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000337,Broad forehead,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000341,Narrow forehead,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000349,Widow's peak,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000356,Abnormality of the outer ear,Frequent (79-30%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000411,Protruding ear,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000448,Prominent nose,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000494,Downslanted palpebral fissures,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000520,Proptosis,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000601,Hypotelorism,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000657,Oculomotor apraxia,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000739,Anxiety,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000767,Pectus excavatum,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000805,Enuresis,Frequent (79-30%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001212,Prominent fingertip pads,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001251,Ataxia,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001363,Craniosynostosis,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001385,Hip dysplasia,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001622,Premature birth,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001800,Hypoplastic toenails,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001919,Acute kidney injury,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0002007,Frontal bossing,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0002023,Anal atresia,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0002169,Clonus,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0002280,Enlarged cisterna magna,Frequent (79-30%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0002317,Unsteady gait,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0002389,Cavum septum pellucidum,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0002827,Hip dislocation,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0002938,Lumbar hyperlordosis,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0003196,Short nose,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0003298,Spina bifida occulta,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0003691,Scapular winging,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0005487,Prominent metopic ridge,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0005709,2-3 toe cutaneous syndactyly,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0006956,Dilation of lateral ventricles,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0007010,Poor fine motor coordination,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0007068,Inferior cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0008081,Pes valgus,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0008527,Congenital sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0008554,Cochlear malformation,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0008897,Postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0010743,Short metatarsal,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0011376,Morphological abnormality of the vestibule of the inner ear,Very rare (<4-1%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003711,Orphanet,96148,ORPHA:96148,92,HP:0030084,Clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:14598339, PMID:19253379, PMID:19558528, PMID:28432728]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000078,Abnormality of the genital system,Occasional (29-5%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000176,Submucous cleft hard palate,Occasional (29-5%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000280,Coarse facial features,Occasional (29-5%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000490,Deeply set eye,Frequent (79-30%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000525,Abnormality iris morphology,Occasional (29-5%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000601,Hypotelorism,Occasional (29-5%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0000815,Hypergonadotropic hypogonadism,Occasional (29-5%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0001360,Holoprosencephaly,Occasional (29-5%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0001792,Small nail,Frequent (79-30%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0002011,Morphological central nervous system abnormality,Frequent (79-30%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0011447,Hyposegmentation of neutrophil nuclei,Occasional (29-5%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003738,Orphanet,250999,ORPHA:250999,32,HP:0012471,Thick vermilion border,Frequent (79-30%),TAS,,,,"[PMID:17873649, PMID:19184110, PMID:20358614, PMID:20799323, PMID:23542665, PMID:25900767, PMID:7894732, PMID:9728329]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0000190,Abnormal oral frenulum morphology,Frequent (79-30%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0000274,Small face,Frequent (79-30%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0000322,Short philtrum,Frequent (79-30%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0000525,Abnormality iris morphology,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0000589,Coloboma,Frequent (79-30%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0001188,Hand clenching,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0001319,Neonatal hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0002871,Central apnea,Occasional (29-5%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0010078,Bullet-shaped distal phalanx of the hallux,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003746,Orphanet,1617,ORPHA:1617,28,HP:0100807,Long fingers,Very frequent (99-80%),TAS,,,,"[PMID:16523518, PMID:2121576, PMID:24924433, PMID:4009646, PMID:7717414]",y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0000960,Sacral dimple,Occasional (29-5%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0004467,Preauricular pit,Occasional (29-5%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0006695,Atrioventricular canal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0007670,Abnormal vestibulo-ocular reflex,Occasional (29-5%),TAS,,,,,y,y +GARD:0003750,Orphanet,1620,ORPHA:1620,34,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000478,Abnormality of the eye,Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000504,Abnormality of vision,Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0001274,Agenesis of corpus callosum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0001838,Rocker bottom foot,Occasional (29-5%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0003241,External genital hypoplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0012639,Abnormal nervous system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003764,Orphanet,251056,ORPHA:251056,32,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000233,Thin vermilion border,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000293,Full cheeks,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000582,Upslanted palpebral fissure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001182,Tapered finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001669,Transposition of the great arteries,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001679,Abnormal aortic morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0004383,Hypoplastic left heart,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0004415,Pulmonary artery stenosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0006695,Atrioventricular canal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0007018,Attention deficit hyperactivity disorder,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0008572,External ear malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0009623,Proximal placement of thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0010059,Broad hallux phalanx,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003769,Orphanet,251071,ORPHA:251071,49,HP:0100625,Enlarged thorax,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000047,Hypospadias,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000074,Ureteropelvic junction obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000243,Trigonocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000413,Atresia of the external auditory canal,Occasional (29-5%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000465,Webbed neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000574,Thick eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000776,Congenital diaphragmatic hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0000925,Abnormality of the vertebral column,Occasional (29-5%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0001162,Postaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0001362,Calvarial skull defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0001816,Thin nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0001850,Abnormality of the tarsal bones,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0009623,Proximal placement of thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0009892,Anotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003773,Orphanet,261112,ORPHA:261112,58,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0000820,Abnormality of the thyroid gland,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0000837,Increased circulating gonadotropin level,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0000845,Elevated circulating growth hormone concentration,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0000870,Increased circulating prolactin concentration,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0001031,Subcutaneous lipoma,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0001046,Intermittent jaundice,Occasional (29-5%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0001406,Intrahepatic cholestasis,Occasional (29-5%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0001438,Abnormal abdomen morphology,Occasional (29-5%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0001895,Normochromic anemia,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0001944,Dehydration,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0002024,Malabsorption,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0002573,Hematochezia,Excluded (0%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0002747,Respiratory insufficiency due to muscle weakness,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0002893,Pituitary adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0002894,Neoplasm of the pancreas,Very frequent (99-80%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0002896,Neoplasm of the liver,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0002897,Parathyroid adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0003005,Ganglioneuroma,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0003072,Hypercalcemia,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0003118,Increased circulating cortisol level,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0003324,Generalized muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0003528,Elevated calcitonin,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0005208,Secretory diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0006719,Benign gastrointestinal tract tumors,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0006731,Follicular thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0008200,Primary hyperparathyroidism,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0008256,Adrenocortical adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0012334,Extrahepatic cholestasis,Occasional (29-5%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0012432,Chronic fatigue,Frequent (79-30%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003787,Orphanet,97282,ORPHA:97282,41,HP:0030895,Abnormal gastrointestinal motility,Occasional (29-5%),TAS,,,,"[PMID:10834901, PMID:10940685, PMID:13492596, PMID:15317894, PMID:16416161, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:23993192, PMID:2440390]",y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0000340,Sloping forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0000490,Deeply set eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0000581,Blepharophimosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0001360,Holoprosencephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0001558,Decreased fetal movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0002103,Abnormal pleura morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0002324,Hydranencephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0002828,Multiple joint contractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0006703,Aplasia/Hypoplasia of the lungs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0007477,Abnormal dermatoglyphics,Occasional (29-5%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0010662,Abnormality of the diencephalon,Occasional (29-5%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003788,Orphanet,2570,ORPHA:2570,24,HP:0100625,Enlarged thorax,Frequent (79-30%),TAS,,,,,y,y +GARD:0003791,Orphanet,2400,ORPHA:2400,7,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003791,Orphanet,2400,ORPHA:2400,7,HP:0001063,Acrocyanosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003791,Orphanet,2400,ORPHA:2400,7,HP:0001265,Hyporeflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003791,Orphanet,2400,ORPHA:2400,7,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003791,Orphanet,2400,ORPHA:2400,7,HP:0002571,Achalasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003791,Orphanet,2400,ORPHA:2400,7,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003791,Orphanet,2400,ORPHA:2400,7,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003793,Orphanet,3347,ORPHA:3347,7,HP:0002086,Abnormality of the respiratory system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003793,Orphanet,3347,ORPHA:3347,7,HP:0002090,Pneumonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003793,Orphanet,3347,ORPHA:3347,7,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003793,Orphanet,3347,ORPHA:3347,7,HP:0002777,Tracheal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003793,Orphanet,3347,ORPHA:3347,7,HP:0006538,Recurrent bronchopulmonary infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003793,Orphanet,3347,ORPHA:3347,7,HP:0010776,Tracheobronchmegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003793,Orphanet,3347,ORPHA:3347,7,HP:0012387,Bronchitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003795,Orphanet,2572,ORPHA:2572,12,HP:0000519,Developmental cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003795,Orphanet,2572,ORPHA:2572,12,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003795,Orphanet,2572,ORPHA:2572,12,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003795,Orphanet,2572,ORPHA:2572,12,HP:0001131,Corneal dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003795,Orphanet,2572,ORPHA:2572,12,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003795,Orphanet,2572,ORPHA:2572,12,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0003795,Orphanet,2572,ORPHA:2572,12,HP:0002497,Spastic ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003795,Orphanet,2572,ORPHA:2572,12,HP:0002503,Spinocerebellar tract degeneration,Frequent (79-30%),TAS,,,,,y,y +GARD:0003795,Orphanet,2572,ORPHA:2572,12,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0003795,Orphanet,2572,ORPHA:2572,12,HP:0004313,Decreased circulating antibody level,Frequent (79-30%),TAS,,,,,y,y +GARD:0003795,Orphanet,2572,ORPHA:2572,12,HP:0004374,Hemiplegia/hemiparesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003795,Orphanet,2572,ORPHA:2572,12,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0000269,Prominent occiput,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0000364,Hearing abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0001061,Acne,Frequent (79-30%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0001646,Abnormal aortic valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0001654,Abnormal heart valve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0004493,Craniofacial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0008818,Large iliac wing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0008821,Hypoplastic inferior ilia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0012378,Fatigue,Occasional (29-5%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003806,Orphanet,577,ORPHA:577,23,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000158,Macroglossia,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000388,Otitis media,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000389,Chronic otitis media,Very frequent (99-80%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000391,Thickened helices,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000410,Mixed hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000510,Rod-cone dystrophy,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000546,Retinal degeneration,Very rare (<4-1%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000662,Nyctalopia,Very rare (<4-1%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000710,Hyperorality,Very rare (<4-1%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000734,Disinhibition,Very rare (<4-1%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000752,Hyperactivity,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000889,Abnormal clavicle morphology,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0000943,Dysostosis multiplex,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001007,Hirsutism,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001133,Constriction of peripheral visual field,Very rare (<4-1%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001328,Specific learning disability,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001538,Protuberant abdomen,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001604,Vocal cord paresis,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001637,Abnormal myocardium morphology,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001646,Abnormal aortic valve morphology,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001678,Atrioventricular block,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002159,Heparan sulfate excretion in urine,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002208,Coarse hair,Very frequent (99-80%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002254,Intermittent diarrhea,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002344,Progressive neurologic deterioration,Very frequent (99-80%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002376,Developmental regression,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002505,Loss of ambulation,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002781,Upper airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002857,Genu valgum,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0002870,Obstructive sleep apnea,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0003541,Urinary glycosaminoglycan excretion,Very frequent (99-80%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0004452,Abnormality of the middle ear ossicles,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0004493,Craniofacial hyperostosis,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0005425,Recurrent sinopulmonary infections,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0006801,Hyperactive deep tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0006887,"Intellectual disability, progressive",Very frequent (99-80%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0007009,Central nervous system degeneration,Very frequent (99-80%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0007759,Opacification of the corneal stroma,Very rare (<4-1%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0007957,Corneal opacity,Very rare (<4-1%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0008155,Mucopolysacchariduria,Very frequent (99-80%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0009928,Thick nasal alae,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0011110,Recurrent tonsillitis,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0011842,Abnormal skeletal morphology,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0011947,Respiratory tract infection,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0012185,Constrictive median neuropathy,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0012664,Reduced ejection fraction,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0025160,Abnormal temper tantrums,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0030195,Fatigable weakness of swallowing muscles,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0030214,Hypersexuality,Very rare (<4-1%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0030838,Hip pain,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0031458,Adenoiditis,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0100512,Low levels of vitamin D,Occasional (29-5%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0100874,Thick hair,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003807,Orphanet,581,ORPHA:581,106,HP:0410263,Brain imaging abnormality,Frequent (79-30%),TAS,,,,"[PMID:25851924, PMID:31536183]",y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0000112,Nephropathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0001225,Wrist swelling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0001495,Carpal osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0001504,Metacarpal osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0002714,Downturned corners of mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0003019,Abnormality of the wrist,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0003100,Slender long bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003818,Orphanet,2774,ORPHA:2774,21,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0000575,Scotoma,Very rare (<4-1%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0001259,Coma,Occasional (29-5%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0001987,Hyperammonemia,Very frequent (99-80%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0001992,Organic aciduria,Very frequent (99-80%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0002313,Spastic paraparesis,Very rare (<4-1%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0002715,Abnormality of the immune system,Occasional (29-5%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0003690,Limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0005979,Metabolic ketoacidosis,Very frequent (99-80%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0008311,Spinal cord posterior columns myelin loss,Very rare (<4-1%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0025356,Psychomotor retardation,Frequent (79-30%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003824,Orphanet,148,ORPHA:148,26,HP:0410145,Decreased biotinidase level,Frequent (79-30%),TAS,,,,"[PMID:22116691, PMID:23622402, PMID:30746739]",y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0000141,Amenorrhea,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0000169,Gingival fibromatosis,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0000716,Depression,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0000802,Impotence,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0000845,Elevated circulating growth hormone concentration,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0000849,Adrenocortical abnormality,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0000853,Goiter,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0001012,Multiple lipomas,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0001259,Coma,Very rare (<4-1%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0001289,Confusion,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0001293,Cranial nerve compression,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0001579,Primary hypercortisolism,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002039,Anorexia,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002044,Zollinger-Ellison syndrome,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002150,Hypercalciuria,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002248,Hematemesis,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002249,Melena,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002315,Headache,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002588,Duodenal ulcer,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002666,Pheochromocytoma,Very rare (<4-1%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002858,Meningioma,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002888,Ependymoma,Very rare (<4-1%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002890,Thyroid carcinoma,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002893,Pituitary adenoma,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0002894,Neoplasm of the pancreas,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0003072,Hypercalcemia,Very frequent (99-80%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0003118,Increased circulating cortisol level,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0003144,Increased serum serotonin,Very rare (<4-1%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0003528,Elevated calcitonin,Very rare (<4-1%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0004398,Peptic ulcer,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0005605,Large cafe-au-lait macules with irregular margins,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0006723,Intestinal carcinoid,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0006744,Adrenocortical carcinoma,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0006767,Pituitary prolactin cell adenoma,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0006780,Parathyroid carcinoma,Very rare (<4-1%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0007449,Confetti-like hypopigmented macules,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0008200,Primary hyperparathyroidism,Very frequent (99-80%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0008208,Parathyroid hyperplasia,Very frequent (99-80%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0008291,Pituitary corticotropic cell adenoma,Very rare (<4-1%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0010615,Angiofibromas,Very frequent (99-80%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0011151,Atypical absence status epilepticus,Very rare (<4-1%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0011407,Proportionate tall stature,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0011759,Pituitary gonadotropic cell adenoma,Very rare (<4-1%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0011760,Pituitary growth hormone cell adenoma,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0011761,Pituitary null cell adenoma,Very rare (<4-1%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0011762,Pituitary thyrotropic cell adenoma,Very rare (<4-1%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0012197,Insulinoma,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0012232,Shortened QT interval,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0030404,Glucagonoma,Very rare (<4-1%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0030405,Pancreatic endocrine tumor,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0030445,Pulmonary carcinoid tumor,Very rare (<4-1%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0031058,Impairment of activities of daily living,Very frequent (99-80%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0032044,Decreased vigilance,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0040085,Abnormal circulating aldosterone,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0040306,Decreased male libido,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0100522,Thymoma,Very rare (<4-1%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0100570,Carcinoid tumor,Occasional (29-5%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0100829,Galactorrhea,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003829,Orphanet,652,ORPHA:652,74,HP:0500167,Hypergastrinemia,Frequent (79-30%),TAS,,,,[PMID:20301710],y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0000739,Anxiety,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0000975,Hyperhidrosis,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0001388,Joint laxity,Very rare (<4-1%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0001519,Disproportionate tall stature,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0002150,Hypercalciuria,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0002640,Hypertension associated with pheochromocytoma,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0002666,Pheochromocytoma,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0002864,Paraganglioma of head and neck,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0002865,Medullary thyroid carcinoma,Very frequent (99-80%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0002896,Neoplasm of the liver,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0002897,Parathyroid adenoma,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0003072,Hypercalcemia,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0003165,Elevated circulating parathyroid hormone level,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0003270,Abdominal distention,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0003345,Elevated urinary norepinephrine,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0003528,Elevated calcitonin,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0003639,Elevated urinary epinephrine,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0003758,Reduced subcutaneous adipose tissue,Very rare (<4-1%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0007126,Proximal amyotrophy,Very rare (<4-1%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0008200,Primary hyperparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0008208,Parathyroid hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0010622,Neoplasm of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0010726,Prominent corneal nerve fibers,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0011781,Thyroid C cell hyperplasia,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0011976,Elevated urinary catecholamines,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0011978,Elevated urinary vanillylmandelic acid,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0012471,Thick vermilion border,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0025151,Ganglioneuromatosis,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0025289,Cervical lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0025388,Thyroid nodule,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0030430,Neuroma,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0030809,Abnormal tongue morphology,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0030833,Neck pain,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0031023,Multiple mucosal neuromas,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0032241,Cervical neoplasm,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0032346,Cutaneous lichen amyloidosis,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0100526,Neoplasm of the lung,Occasional (29-5%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003830,Orphanet,653,ORPHA:653,48,HP:0100735,Hypertensive crisis,Frequent (79-30%),TAS,,,,"[PMID:20301434, PMID:24889858]",y,y +GARD:0003836,Orphanet,3237,ORPHA:3237,10,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0003836,Orphanet,3237,ORPHA:3237,10,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003836,Orphanet,3237,ORPHA:3237,10,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003836,Orphanet,3237,ORPHA:3237,10,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003836,Orphanet,3237,ORPHA:3237,10,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,,y,y +GARD:0003836,Orphanet,3237,ORPHA:3237,10,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003836,Orphanet,3237,ORPHA:3237,10,HP:0007598,Bilateral single transverse palmar creases,Frequent (79-30%),TAS,,,,,y,y +GARD:0003836,Orphanet,3237,ORPHA:3237,10,HP:0009773,Symphalangism affecting the phalanges of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003836,Orphanet,3237,ORPHA:3237,10,HP:0010579,Cone-shaped epiphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003836,Orphanet,3237,ORPHA:3237,10,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0000158,Macroglossia,Frequent (79-30%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0000194,Open mouth,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0000649,Abnormality of visual evoked potentials,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0001302,Pachygyria,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0001315,Reduced tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0001339,Lissencephaly,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0001612,Weak cry,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002058,Myopathic facies,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002092,Pulmonary arterial hypertension,Very rare (<4-1%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002093,Respiratory insufficiency,Very rare (<4-1%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002121,Generalized non-motor (absence) seizure,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002181,Cerebral edema,Frequent (79-30%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002375,Hypokinesia,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002446,Astrocytosis,Frequent (79-30%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002540,Inability to walk,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002783,Recurrent lower respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002791,Hypoventilation,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002835,Aspiration,Frequent (79-30%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0002878,Respiratory failure,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0003560,Muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0003741,Congenital muscular dystrophy,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0004325,Decreased body weight,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0004878,Intercostal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0005216,Impaired mastication,Frequent (79-30%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0006879,Pontocerebellar atrophy,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0007141,Sensorimotor neuropathy,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0007359,Focal-onset seizure,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0009025,Increased connective tissue,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0010754,Abnormality of the temporomandibular joint,Frequent (79-30%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0010808,Protruding tongue,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0012664,Reduced ejection fraction,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0012747,Abnormal brainstem MRI signal intensity,Frequent (79-30%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0030091,Absent muscle fiber merosin,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0030234,Highly elevated creatine kinase,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0100295,Muscle fiber atrophy,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0100614,Myositis,Very frequent (99-80%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003843,Orphanet,258,ORPHA:258,54,HP:0100750,Atelectasis,Occasional (29-5%),TAS,,,,"[PMID:17628813, PMID:24778697, PMID:9185183]",y,y +GARD:0003844,Orphanet,1878,ORPHA:1878,9,HP:0000098,Tall stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0003844,Orphanet,1878,ORPHA:1878,9,HP:0000298,Mask-like facies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003844,Orphanet,1878,ORPHA:1878,9,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003844,Orphanet,1878,ORPHA:1878,9,HP:0002515,Waddling gait,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003844,Orphanet,1878,ORPHA:1878,9,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003844,Orphanet,1878,ORPHA:1878,9,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003844,Orphanet,1878,ORPHA:1878,9,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003844,Orphanet,1878,ORPHA:1878,9,HP:0003557,Increased variability in muscle fiber diameter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003844,Orphanet,1878,ORPHA:1878,9,HP:0008994,Proximal muscle weakness in lower limbs,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003851,Orphanet,119,ORPHA:119,13,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:10662809, PMID:11369190, PMID:15684453]",y,y +GARD:0003851,Orphanet,119,ORPHA:119,13,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:10662809, PMID:11369190, PMID:15684453]",y,y +GARD:0003851,Orphanet,119,ORPHA:119,13,HP:0002058,Myopathic facies,Frequent (79-30%),TAS,,,,"[PMID:10662809, PMID:11369190, PMID:15684453]",y,y +GARD:0003851,Orphanet,119,ORPHA:119,13,HP:0002136,Broad-based gait,Frequent (79-30%),TAS,,,,"[PMID:10662809, PMID:11369190, PMID:15684453]",y,y +GARD:0003851,Orphanet,119,ORPHA:119,13,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:10662809, PMID:11369190, PMID:15684453]",y,y +GARD:0003851,Orphanet,119,ORPHA:119,13,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:10662809, PMID:11369190, PMID:15684453]",y,y +GARD:0003851,Orphanet,119,ORPHA:119,13,HP:0002913,Myoglobinuria,Occasional (29-5%),TAS,,,,"[PMID:10662809, PMID:11369190, PMID:15684453]",y,y +GARD:0003851,Orphanet,119,ORPHA:119,13,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:10662809, PMID:11369190, PMID:15684453]",y,y +GARD:0003851,Orphanet,119,ORPHA:119,13,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:10662809, PMID:11369190, PMID:15684453]",y,y +GARD:0003851,Orphanet,119,ORPHA:119,13,HP:0003391,Gowers sign,Frequent (79-30%),TAS,,,,"[PMID:10662809, PMID:11369190, PMID:15684453]",y,y +GARD:0003851,Orphanet,119,ORPHA:119,13,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,"[PMID:10662809, PMID:11369190, PMID:15684453]",y,y +GARD:0003851,Orphanet,119,ORPHA:119,13,HP:0003749,Pelvic girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:10662809, PMID:11369190, PMID:15684453]",y,y +GARD:0003851,Orphanet,119,ORPHA:119,13,HP:0008981,Calf muscle hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:10662809, PMID:11369190, PMID:15684453]",y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0000045,Abnormality of the scrotum,Occasional (29-5%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0000064,Hypoplastic labia minora,Occasional (29-5%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0000902,Rib fusion,Occasional (29-5%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0001034,Hypermelanotic macule,Very frequent (99-80%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0002558,Supernumerary nipple,Very frequent (99-80%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0002992,Abnormality of tibia morphology,Occasional (29-5%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0003724,Shoulder girdle muscle atrophy,Very frequent (99-80%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0005815,Supernumerary ribs,Occasional (29-5%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0010311,Aplasia/Hypoplasia of the breasts,Frequent (79-30%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0010566,Hamartoma,Very frequent (99-80%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0100560,Upper limb asymmetry,Occasional (29-5%),TAS,,,,[PMID:20542174],y,y +GARD:0003856,Orphanet,64755,ORPHA:64755,19,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,[PMID:20542174],y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0000152,Abnormality of head or neck,Very rare (<4-1%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0000765,Abnormal thorax morphology,Very rare (<4-1%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0001015,Prominent superficial veins,Frequent (79-30%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0001482,Subcutaneous nodule,Frequent (79-30%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0002661,Painless fractures due to injury,Very rare (<4-1%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0002756,Pathologic fracture,Very rare (<4-1%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0002815,Abnormality of the knee,Occasional (29-5%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0002841,Recurrent fungal infections,Frequent (79-30%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0002953,Vertebral compression fracture,Very rare (<4-1%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0003312,Abnormal form of the vertebral bodies,Very rare (<4-1%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0003330,Abnormal bone structure,Frequent (79-30%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0003418,Back pain,Very rare (<4-1%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0005406,Recurrent bacterial skin infections,Frequent (79-30%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0010219,Structural foot deformity,Frequent (79-30%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0010550,Paraplegia,Very rare (<4-1%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0011844,Abnormal appendicular skeleton morphology,Occasional (29-5%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0012062,Bone cyst,Very rare (<4-1%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0025245,Cutaneous cyst,Occasional (29-5%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0030053,Stiff skin,Frequent (79-30%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0031288,Cobblestone-like hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0031500,Abdominal mass,Very rare (<4-1%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0031501,Pelvic mass,Very rare (<4-1%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0040072,Abnormality of forearm bone,Occasional (29-5%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0100763,Abnormality of the lymphatic system,Occasional (29-5%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003862,Orphanet,2583,ORPHA:2583,29,HP:0100809,Scalp tenderness,Very rare (<4-1%),TAS,,,,"[PMID:26738840, PMID:28837657, PMID:29808607]",y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0000492,Abnormal eyelid morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0000958,Dry skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0000964,Eczema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0000969,Edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0001029,Poikiloderma,Frequent (79-30%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0001053,Hypopigmented skin patches,Frequent (79-30%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0002665,Lymphoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0004332,Abnormal lymphocyte morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0005561,Abnormality of bone marrow cell morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0007400,Irregular hyperpigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0008069,Neoplasm of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0012192,Cutaneous T-cell lymphoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0200035,Skin plaque,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003863,Orphanet,2584,ORPHA:2584,23,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0001272,Cerebellar atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0001874,Abnormality of neutrophils,Frequent (79-30%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0001908,Hypoplastic anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0002317,Unsteady gait,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0004311,Abnormal macrophage morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0004313,Decreased circulating antibody level,Occasional (29-5%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0004820,Acute myelomonocytic leukemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003865,Orphanet,2585,ORPHA:2585,18,HP:0011869,Abnormal platelet function,Occasional (29-5%),TAS,,,,,y,y +GARD:0003873,Orphanet,2589,ORPHA:2589,10,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:2614456],y,y +GARD:0003873,Orphanet,2589,ORPHA:2589,10,HP:0001336,Myoclonus,Frequent (79-30%),TAS,,,,[PMID:2614456],y,y +GARD:0003873,Orphanet,2589,ORPHA:2589,10,HP:0002073,Progressive cerebellar ataxia,Frequent (79-30%),TAS,,,,[PMID:2614456],y,y +GARD:0003873,Orphanet,2589,ORPHA:2589,10,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,[PMID:2614456],y,y +GARD:0003873,Orphanet,2589,ORPHA:2589,10,HP:0002522,Areflexia of lower limbs,Frequent (79-30%),TAS,,,,[PMID:2614456],y,y +GARD:0003873,Orphanet,2589,ORPHA:2589,10,HP:0003445,EMG: neuropathic changes,Frequent (79-30%),TAS,,,,[PMID:2614456],y,y +GARD:0003873,Orphanet,2589,ORPHA:2589,10,HP:0003700,Generalized amyotrophy,Frequent (79-30%),TAS,,,,[PMID:2614456],y,y +GARD:0003873,Orphanet,2589,ORPHA:2589,10,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,[PMID:2614456],y,y +GARD:0003873,Orphanet,2589,ORPHA:2589,10,HP:0007240,Progressive gait ataxia,Frequent (79-30%),TAS,,,,[PMID:2614456],y,y +GARD:0003873,Orphanet,2589,ORPHA:2589,10,HP:0008619,Bilateral sensorineural hearing impairment,Frequent (79-30%),TAS,,,,[PMID:2614456],y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0001249,Intellectual disability,Very rare (<4-1%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0001250,Seizure,Obligate (100%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0001371,Flexion contracture,Excluded (0%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0001433,Hepatosplenomegaly,Excluded (0%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0001609,Hoarse voice,Excluded (0%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0001757,High-frequency sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0002015,Dysphagia,Very rare (<4-1%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0002100,Recurrent aspiration pneumonia,Frequent (79-30%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0002366,Abnormal lower motor neuron morphology,Very frequent (99-80%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0004302,Functional motor deficit,Very frequent (99-80%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0007340,Lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0010819,Atonic seizure,Frequent (79-30%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0011147,Typical absence seizure,Frequent (79-30%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0025097,Eyelid myoclonus,Occasional (29-5%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0025190,Bilateral tonic-clonic seizure with generalized onset,Occasional (29-5%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0032667,Myoclonic status epilepticus,Occasional (29-5%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0045084,Limb myoclonus,Occasional (29-5%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003875,Orphanet,2590,ORPHA:2590,33,HP:0200036,Skin nodule,Excluded (0%),TAS,,,,"[PMID:29595935, PMID:30029679]",y,y +GARD:0003876,Orphanet,308,ORPHA:308,10,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,[PMID:25667885],y,y +GARD:0003876,Orphanet,308,ORPHA:308,10,HP:0000992,Cutaneous photosensitivity,Occasional (29-5%),TAS,,,,[PMID:25667885],y,y +GARD:0003876,Orphanet,308,ORPHA:308,10,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:25667885],y,y +GARD:0003876,Orphanet,308,ORPHA:308,10,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,[PMID:25667885],y,y +GARD:0003876,Orphanet,308,ORPHA:308,10,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:25667885],y,y +GARD:0003876,Orphanet,308,ORPHA:308,10,HP:0001336,Myoclonus,Very frequent (99-80%),TAS,,,,[PMID:25667885],y,y +GARD:0003876,Orphanet,308,ORPHA:308,10,HP:0002070,Limb ataxia,Very frequent (99-80%),TAS,,,,[PMID:25667885],y,y +GARD:0003876,Orphanet,308,ORPHA:308,10,HP:0002080,Intention tremor,Frequent (79-30%),TAS,,,,[PMID:25667885],y,y +GARD:0003876,Orphanet,308,ORPHA:308,10,HP:0002392,EEG with polyspike wave complexes,Very frequent (99-80%),TAS,,,,[PMID:25667885],y,y +GARD:0003876,Orphanet,308,ORPHA:308,10,HP:0007000,Morning myoclonic jerks,Very frequent (99-80%),TAS,,,,[PMID:25667885],y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0000726,Dementia,Very rare (<4-1%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0001319,Neonatal hypotonia,Very rare (<4-1%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0001771,Achilles tendon contracture,Very rare (<4-1%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0002073,Progressive cerebellar ataxia,Occasional (29-5%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0002395,Lower limb hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0002495,Impaired vibratory sensation,Very rare (<4-1%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0003477,Peripheral axonal neuropathy,Occasional (29-5%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0003546,Exercise intolerance,Frequent (79-30%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0003547,Shoulder girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0003749,Pelvic girdle muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0003756,Skeletal myopathy,Very frequent (99-80%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0007126,Proximal amyotrophy,Very frequent (99-80%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0008944,Distal lower limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0009073,Progressive proximal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0012036,Sternocleidomastoid amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0012391,Hyporeflexia of upper limbs,Frequent (79-30%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0012507,Weakness of orbicularis oculi muscle,Occasional (29-5%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0030051,Tip-toe gait,Occasional (29-5%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0030319,Weakness of facial musculature,Occasional (29-5%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0031258,Delirium,Very rare (<4-1%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0100651,Type I diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003881,Orphanet,2596,ORPHA:2596,32,HP:0100753,Schizophrenia,Very rare (<4-1%),TAS,,,,"[PMID:15048886, PMID:15607216, PMID:4114165, PMID:4716844, PMID:5463538, PMID:6329761, PMID:7229664, PMID:7726154, PMID:7726155, PMID:9212319]",y,y +GARD:0003884,Orphanet,2593,ORPHA:2593,9,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,[PMID:15452313],y,y +GARD:0003884,Orphanet,2593,ORPHA:2593,9,HP:0003394,Muscle spasm,Very frequent (99-80%),TAS,,,,[PMID:15452313],y,y +GARD:0003884,Orphanet,2593,ORPHA:2593,9,HP:0003458,EMG: myopathic abnormalities,Very frequent (99-80%),TAS,,,,[PMID:15452313],y,y +GARD:0003884,Orphanet,2593,ORPHA:2593,9,HP:0003473,Fatigable weakness,Very frequent (99-80%),TAS,,,,[PMID:15452313],y,y +GARD:0003884,Orphanet,2593,ORPHA:2593,9,HP:0003554,Type 2 muscle fiber atrophy,Occasional (29-5%),TAS,,,,[PMID:15452313],y,y +GARD:0003884,Orphanet,2593,ORPHA:2593,9,HP:0003557,Increased variability in muscle fiber diameter,Frequent (79-30%),TAS,,,,[PMID:15452313],y,y +GARD:0003884,Orphanet,2593,ORPHA:2593,9,HP:0003687,Centrally nucleated skeletal muscle fibers,Frequent (79-30%),TAS,,,,[PMID:15452313],y,y +GARD:0003884,Orphanet,2593,ORPHA:2593,9,HP:0030200,Fatiguable weakness of proximal limb muscles,Very frequent (99-80%),TAS,,,,[PMID:15452313],y,y +GARD:0003884,Orphanet,2593,ORPHA:2593,9,HP:0100301,Muscle fiber tubular inclusions,Very frequent (99-80%),TAS,,,,[PMID:15452313],y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0000823,Delayed puberty,Frequent (79-30%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0003737,Mitochondrial myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0009055,Generalized limb muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003885,Orphanet,2598,ORPHA:2598,19,HP:0009743,Distichiasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000162,Glossoptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000201,Pierre-Robin sequence,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000634,Impaired ocular abduction,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0000807,Glandular hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0001600,Abnormality of the larynx,Occasional (29-5%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0001602,Laryngeal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0006824,Cranial nerve paralysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0009465,Ulnar deviation of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0009751,Aplasia of the pectoralis major muscle,Occasional (29-5%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0010295,Aplasia/Hypoplasia of the tongue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0010628,Facial palsy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003889,Orphanet,1358,ORPHA:1358,36,HP:0100735,Hypertensive crisis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003896,Orphanet,611,ORPHA:611,13,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,,y,y +GARD:0003896,Orphanet,611,ORPHA:611,13,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003896,Orphanet,611,ORPHA:611,13,HP:0003200,Ragged-red muscle fibers,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003896,Orphanet,611,ORPHA:611,13,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003896,Orphanet,611,ORPHA:611,13,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003896,Orphanet,611,ORPHA:611,13,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003896,Orphanet,611,ORPHA:611,13,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003896,Orphanet,611,ORPHA:611,13,HP:0003701,Proximal muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003896,Orphanet,611,ORPHA:611,13,HP:0003731,Quadriceps muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003896,Orphanet,611,ORPHA:611,13,HP:0003805,Rimmed vacuoles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003896,Orphanet,611,ORPHA:611,13,HP:0004303,Abnormal muscle fiber morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003896,Orphanet,611,ORPHA:611,13,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003896,Orphanet,611,ORPHA:611,13,HP:0009071,Inflammatory myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003902,Orphanet,2608,ORPHA:2608,11,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,"[PMID:1689958, PMID:3130873, PMID:4216437]",y,y +GARD:0003902,Orphanet,2608,ORPHA:2608,11,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,"[PMID:1689958, PMID:3130873, PMID:4216437]",y,y +GARD:0003902,Orphanet,2608,ORPHA:2608,11,HP:0000485,Megalocornea,Very frequent (99-80%),TAS,,,,"[PMID:1689958, PMID:3130873, PMID:4216437]",y,y +GARD:0003902,Orphanet,2608,ORPHA:2608,11,HP:0000492,Abnormal eyelid morphology,Very frequent (99-80%),TAS,,,,"[PMID:1689958, PMID:3130873, PMID:4216437]",y,y +GARD:0003902,Orphanet,2608,ORPHA:2608,11,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,"[PMID:1689958, PMID:3130873, PMID:4216437]",y,y +GARD:0003902,Orphanet,2608,ORPHA:2608,11,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:1689958, PMID:3130873, PMID:4216437]",y,y +GARD:0003902,Orphanet,2608,ORPHA:2608,11,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,"[PMID:1689958, PMID:3130873, PMID:4216437]",y,y +GARD:0003902,Orphanet,2608,ORPHA:2608,11,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:1689958, PMID:3130873, PMID:4216437]",y,y +GARD:0003902,Orphanet,2608,ORPHA:2608,11,HP:0005517,T-cell lymphoma/leukemia,Very frequent (99-80%),TAS,,,,"[PMID:1689958, PMID:3130873, PMID:4216437]",y,y +GARD:0003902,Orphanet,2608,ORPHA:2608,11,HP:0008619,Bilateral sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:1689958, PMID:3130873, PMID:4216437]",y,y +GARD:0003902,Orphanet,2608,ORPHA:2608,11,HP:0012372,Abnormal eye morphology,Very frequent (99-80%),TAS,,,,"[PMID:1689958, PMID:3130873, PMID:4216437]",y,y +GARD:0003903,Orphanet,79281,ORPHA:79281,8,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003903,Orphanet,79281,ORPHA:79281,8,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003903,Orphanet,79281,ORPHA:79281,8,HP:0000717,Autism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003903,Orphanet,79281,ORPHA:79281,8,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003903,Orphanet,79281,ORPHA:79281,8,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003903,Orphanet,79281,ORPHA:79281,8,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003903,Orphanet,79281,ORPHA:79281,8,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003903,Orphanet,79281,ORPHA:79281,8,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000294,Low anterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000340,Sloping forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000364,Hearing abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000492,Abnormal eyelid morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0000992,Cutaneous photosensitivity,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0001268,Mental deterioration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0001480,Freckling,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0001878,Hemolytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0001890,Autoimmune hemolytic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0002002,Deep philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0002023,Anal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0002025,Anal stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0002028,Chronic diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0002488,Acute leukemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0002664,Neoplasm,Frequent (79-30%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0002859,Rhabdomyosarcoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0003011,Abnormality of the musculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0003220,Abnormality of chromosome stability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0005425,Recurrent sinopulmonary infections,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0006532,Recurrent pneumonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0009733,Glioma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0011362,Abnormal hair quantity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0012190,T-cell lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0012191,B-cell lymphoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0012732,Anorectal anomaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0100335,Non-midline cleft lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0003904,Orphanet,647,ORPHA:647,49,HP:0100515,Pollakisuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0000114,Proximal tubulopathy,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0000543,Optic disc pallor,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0000817,Poor eye contact,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0001138,Optic neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0001254,Lethargy,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0001298,Encephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0001639,Hypertrophic cardiomyopathy,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0001943,Hypoglycemia,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0002013,Vomiting,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0002352,Leukoencephalopathy,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0002415,Leukodystrophy,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0002421,Poor head control,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0002490,Increased CSF lactate,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0003128,Lactic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0003542,Increased serum pyruvate,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0003737,Mitochondrial myopathy,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0007704,Paroxysmal involuntary eye movements,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0008316,Abnormal mitochondria in muscle tissue,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0011923,Decreased activity of mitochondrial complex I,Obligate (100%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0012748,Focal T2 hyperintense brainstem lesion,Very frequent (99-80%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003908,Orphanet,2609,ORPHA:2609,37,HP:0025116,Fetal distress,Occasional (29-5%),TAS,,,,"[PMID:30095618, PMID:9463323]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0000966,Hypohidrosis,Frequent (79-30%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0000970,Anhidrosis,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0000972,Palmoplantar hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0001056,Milia,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0001220,Interphalangeal joint contracture of finger,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0001806,Onycholysis,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0001808,Fragile nails,Frequent (79-30%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0001810,Dystrophic toenail,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0002046,Heat intolerance,Frequent (79-30%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0005586,Hyperpigmentation in sun-exposed areas,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0006253,Swelling of proximal interphalangeal joints,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0006286,Yellow-brown discoloration of the teeth,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0006297,Enamel hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0006480,Premature loss of teeth,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0007427,Reticulated skin pigmentation,Very frequent (99-80%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0007455,Adermatoglyphia,Very frequent (99-80%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0007500,Decreased number of sweat glands,Frequent (79-30%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0007530,Punctate palmoplantar hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0007599,Generalized reticulate brown pigmentation,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0008392,Subungual hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0012785,Flexion contracture of finger,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0031045,Acral blistering,Occasional (29-5%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003912,Orphanet,69087,ORPHA:69087,30,HP:0031282,Malalignment of the great toenail,Frequent (79-30%),TAS,,,,"[PMID:24261749, PMID:31148864]",y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0000135,Hypogonadism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0000153,Abnormality of the mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0000239,Large fontanelles,Occasional (29-5%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0000855,Insulin resistance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0000873,Diabetes insipidus,Occasional (29-5%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0001620,High pitched voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0001943,Hypoglycemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0001956,Truncal obesity,Occasional (29-5%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0002213,Fine hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0003124,Hypercholesterolemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0005978,Type II diabetes mellitus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003924,Orphanet,181393,ORPHA:181393,25,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000349,Widow's peak,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000378,Cupped ear,Occasional (29-5%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000437,Depressed nasal tip,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000499,Abnormal eyelash morphology,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000577,Exotropia,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0000589,Coloboma,Very frequent (99-80%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0001012,Multiple lipomas,Very frequent (99-80%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0002011,Morphological central nervous system abnormality,Excluded (0%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0002788,Recurrent upper respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0007633,Bilateral microphthalmos,Occasional (29-5%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0007820,Lacrimal punctal atresia,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0008850,Severe postnatal growth retardation,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0009926,Epiphora,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0030670,Hamartoma of the orbital region,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0030953,Conjunctival hyperemia,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0031111,Cutaneous hamartoma,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0040164,Lipomas of eyelids,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003927,Orphanet,2399,ORPHA:2399,31,HP:3000022,Abnormality of cartilage of external ear,Occasional (29-5%),TAS,,,,"[PMID:11115270, PMID:1756608, PMID:21836344, PMID:23636874, PMID:27139419, PMID:7091184]",y,y +GARD:0003928,Orphanet,99811,ORPHA:99811,7,HP:0000695,Natal tooth,Very frequent (99-80%),TAS,,,,[PMID:1269170],y,y +GARD:0003928,Orphanet,99811,ORPHA:99811,7,HP:0000776,Congenital diaphragmatic hernia,Frequent (79-30%),TAS,,,,[PMID:1269170],y,y +GARD:0003928,Orphanet,99811,ORPHA:99811,7,HP:0001643,Patent ductus arteriosus,Very frequent (99-80%),TAS,,,,[PMID:1269170],y,y +GARD:0003928,Orphanet,99811,ORPHA:99811,7,HP:0001671,Abnormal cardiac septum morphology,Frequent (79-30%),TAS,,,,[PMID:1269170],y,y +GARD:0003928,Orphanet,99811,ORPHA:99811,7,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,[PMID:1269170],y,y +GARD:0003928,Orphanet,99811,ORPHA:99811,7,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,[PMID:1269170],y,y +GARD:0003928,Orphanet,99811,ORPHA:99811,7,HP:0004313,Decreased circulating antibody level,Very frequent (99-80%),TAS,,,,[PMID:1269170],y,y +GARD:0003929,Orphanet,2663,ORPHA:2663,4,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003929,Orphanet,2663,ORPHA:2663,4,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003929,Orphanet,2663,ORPHA:2663,4,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003929,Orphanet,2663,ORPHA:2663,4,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0000554,Uveitis,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0001094,Iridocyclitis,Very rare (<4-1%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0001155,Abnormality of the hand,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0001384,Abnormal hip joint morphology,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0001386,Joint swelling,Frequent (79-30%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0001433,Hepatosplenomegaly,Very rare (<4-1%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0001530,Mild postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0001785,Ankle swelling,Frequent (79-30%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0001832,Abnormal metatarsal morphology,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0002716,Lymphadenopathy,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0003019,Abnormality of the wrist,Frequent (79-30%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0003043,Abnormal shoulder morphology,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0003319,Abnormality of the cervical spine,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0003326,Myalgia,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0003493,Antinuclear antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0005086,Knee osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0005186,Synovial hypertrophy,Frequent (79-30%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0008843,Hip osteoarthritis,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0010754,Abnormality of the temporomandibular joint,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0011134,Low-grade fever,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0011911,Abnormality of metacarpophalangeal joint,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0040313,Oligoarthritis,Occasional (29-5%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0100686,Enthesitis,Frequent (79-30%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003931,Orphanet,85408,ORPHA:85408,31,HP:0100769,Synovitis,Frequent (79-30%),TAS,,,,"[PMID:17336654, PMID:28418334, PMID:32119492]",y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000177,Abnormality of upper lip,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000187,Broad alveolar ridges,Frequent (79-30%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000194,Open mouth,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000311,Round face,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000358,Posteriorly rotated ears,Frequent (79-30%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000391,Thickened helices,Frequent (79-30%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0000842,Hyperinsulinemia,Frequent (79-30%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0002133,Status epilepticus,Occasional (29-5%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0002667,Nephroblastoma,Frequent (79-30%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0005306,Capillary hemangioma,Occasional (29-5%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0010733,Naevus flammeus of the eyelid,Occasional (29-5%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0012090,Abnormal pancreas morphology,Frequent (79-30%),TAS,,,,[PMID:22306653],y,y +GARD:0003936,Orphanet,2849,ORPHA:2849,38,HP:0100541,Femoral hernia,Occasional (29-5%),TAS,,,,[PMID:22306653],y,y +GARD:0003940,Orphanet,2668,ORPHA:2668,8,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0003940,Orphanet,2668,ORPHA:2668,8,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0003940,Orphanet,2668,ORPHA:2668,8,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003940,Orphanet,2668,ORPHA:2668,8,HP:0000843,Hyperparathyroidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003940,Orphanet,2668,ORPHA:2668,8,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003940,Orphanet,2668,ORPHA:2668,8,HP:0003072,Hypercalcemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003940,Orphanet,2668,ORPHA:2668,8,HP:0012062,Bone cyst,Frequent (79-30%),TAS,,,,,y,y +GARD:0003940,Orphanet,2668,ORPHA:2668,8,HP:0100820,Glomerulopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003943,Orphanet,2669,ORPHA:2669,9,HP:0000079,Abnormality of the urinary system,Frequent (79-30%),TAS,,,,[PMID:13872585],y,y +GARD:0003943,Orphanet,2669,ORPHA:2669,9,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,[PMID:13872585],y,y +GARD:0003943,Orphanet,2669,ORPHA:2669,9,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,[PMID:13872585],y,y +GARD:0003943,Orphanet,2669,ORPHA:2669,9,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,[PMID:13872585],y,y +GARD:0003943,Orphanet,2669,ORPHA:2669,9,HP:0001172,Abnormal thumb morphology,Frequent (79-30%),TAS,,,,[PMID:13872585],y,y +GARD:0003943,Orphanet,2669,ORPHA:2669,9,HP:0008071,Maternal hypertension,Frequent (79-30%),TAS,,,,[PMID:13872585],y,y +GARD:0003943,Orphanet,2669,ORPHA:2669,9,HP:0009611,Bifid distal phalanx of the thumb,Frequent (79-30%),TAS,,,,[PMID:13872585],y,y +GARD:0003943,Orphanet,2669,ORPHA:2669,9,HP:0010055,Broad hallux,Frequent (79-30%),TAS,,,,[PMID:13872585],y,y +GARD:0003943,Orphanet,2669,ORPHA:2669,9,HP:0010097,Partial duplication of the distal phalanx of the hallux,Frequent (79-30%),TAS,,,,[PMID:13872585],y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0000093,Proteinuria,Obligate (100%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0000097,Focal segmental glomerulosclerosis,Frequent (79-30%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0000969,Edema,Very frequent (99-80%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0001945,Fever,Occasional (29-5%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0001967,Diffuse mesangial sclerosis,Occasional (29-5%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0002027,Abdominal pain,Occasional (29-5%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0002586,Peritonitis,Very rare (<4-1%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0003073,Hypoalbuminemia,Occasional (29-5%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0003774,Stage 5 chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0011947,Respiratory tract infection,Occasional (29-5%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0012579,Minimal change glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0012622,Chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0031504,Foamy urine,Occasional (29-5%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003946,Orphanet,656,ORPHA:656,17,HP:0100539,Periorbital edema,Frequent (79-30%),TAS,,,,"[PMID:28566477, PMID:29910038, PMID:32155690]",y,y +GARD:0003948,Orphanet,3350,ORPHA:3350,4,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003948,Orphanet,3350,ORPHA:3350,4,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003948,Orphanet,3350,ORPHA:3350,4,HP:0002588,Duodenal ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003948,Orphanet,3350,ORPHA:3350,4,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0002063,Rigidity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0002357,Dysphasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0003552,Muscle stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0010529,Echolalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003949,Orphanet,2672,ORPHA:2672,15,HP:0100022,Abnormality of movement,Frequent (79-30%),TAS,,,,,y,y +GARD:0003953,Orphanet,351,ORPHA:351,9,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003953,Orphanet,351,ORPHA:351,9,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003953,Orphanet,351,ORPHA:351,9,HP:0000925,Abnormality of the vertebral column,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003953,Orphanet,351,ORPHA:351,9,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003953,Orphanet,351,ORPHA:351,9,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003953,Orphanet,351,ORPHA:351,9,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003953,Orphanet,351,ORPHA:351,9,HP:0003468,Abnormal vertebral morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003953,Orphanet,351,ORPHA:351,9,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003953,Orphanet,351,ORPHA:351,9,HP:0010729,Cherry red spot of the macula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0000514,Slow saccadic eye movements,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0000643,Blepharospasm,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0000716,Depression,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0000722,Obsessive-compulsive behavior,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0000737,Irritability,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0000739,Anxiety,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0000741,Apathy,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0001268,Mental deterioration,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0001300,Parkinsonism,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0001350,Slurred speech,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0001369,Arthritis,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0001644,Dilated cardiomyopathy,Very rare (<4-1%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0001927,Acanthocytosis,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002067,Bradykinesia,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002072,Chorea,Very frequent (99-80%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002275,Poor motor coordination,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002322,Resting tremor,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002340,Caudate atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002360,Sleep disturbance,Very rare (<4-1%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002451,Limb dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002487,Hyperkinetic movements,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002495,Impaired vibratory sensation,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002505,Loss of ambulation,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002527,Falls,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0002599,Head titubation,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0003380,Decreased number of peripheral myelinated nerve fibers,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0003438,Absent Achilles reflex,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0003445,EMG: neuropathic changes,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0003763,Bruxism,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0004305,Involuntary movements,Very frequent (99-80%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0006913,Frontal cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0006956,Dilation of lateral ventricles,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0007078,Decreased amplitude of sensory action potentials,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0008110,Equinovarus deformity,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0008767,Self-mutilation of tongue and lips due to involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0009049,Peroneal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0010808,Protruding tongue,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0011999,Paranoia,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0012048,Oromandibular dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0012049,Laryngeal dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0012167,Hair-pulling,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0012168,Head-banging,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0012332,Abnormal autonomic nervous system physiology,Very rare (<4-1%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0012479,Temporomandibular joint crepitus,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0012675,Iron accumulation in brain,Very rare (<4-1%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0012697,Small basal ganglia,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0025100,Abnormal hippocampus morphology,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0025331,Upgaze palsy,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0025402,Square-wave jerks,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0025435,Increased circulating lactate dehydrogenase concentration,Very rare (<4-1%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0025479,Self-neglect,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0025517,Hypoplastic hippocampus,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0030220,Socially inappropriate behavior,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0030272,Abnormal erythrocyte enzyme level,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0031008,Lingual dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0031843,Bradyphrenia,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0031908,Micrographia,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0031956,Elevated circulating aspartate aminotransferase concentration,Very rare (<4-1%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0031964,Elevated circulating alanine aminotransferase concentration,Very rare (<4-1%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0031982,Abnormal putamen morphology,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0100034,Motor tics,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0100035,Phonic tics,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0100295,Muscle fiber atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003956,Orphanet,2388,ORPHA:2388,86,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:20301561, PMID:29253590]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0000649,Abnormality of visual evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0000712,Emotional lability,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0001272,Cerebellar atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0001285,Spastic tetraparesis,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0001288,Gait disturbance,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0002191,Progressive spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0002307,Drooling,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0002361,Psychomotor deterioration,Very frequent (99-80%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0002483,Bulbar signs,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0002500,Abnormal cerebral white matter morphology,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0003134,Abnormality of peripheral nerve conduction,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0003405,Diffuse axonal swelling,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0003444,EMG: chronic denervation signs,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0005949,Apneic episodes in infancy,Very rare (<4-1%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0005968,Temperature instability,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0008936,Axial hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0010545,Downbeat nystagmus,Very rare (<4-1%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0011951,Aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0012043,Pendular nystagmus,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0012332,Abnormal autonomic nervous system physiology,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0012675,Iron accumulation in brain,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0012677,Iron accumulation in globus pallidus,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0012698,Cerebellar gliosis,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0025331,Upgaze palsy,Very rare (<4-1%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0025435,Increased circulating lactate dehydrogenase concentration,Frequent (79-30%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0030842,Choking episodes,Very rare (<4-1%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0031358,Vegetative state,Very rare (<4-1%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003957,Orphanet,35069,ORPHA:35069,52,HP:0100710,Impulsivity,Occasional (29-5%),TAS,,,,"[PMID:20301718, PMID:27884548, PMID:29409688]",y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0000122,Unilateral renal agenesis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0000288,Abnormality of the philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0001131,Corneal dystrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0001199,Triphalangeal thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0008572,External ear malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0009832,Abnormal distal phalanx morphology of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0009896,Abnormal antitragus morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0009912,Abnormal tragus morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0010650,Hypoplasia of the premaxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0011830,Abnormal oral mucosa morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003964,Orphanet,2673,ORPHA:2673,30,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003967,Orphanet,2678,ORPHA:2678,2,HP:0001480,Freckling,Occasional (29-5%),TAS,,,,,y,y +GARD:0003967,Orphanet,2678,ORPHA:2678,2,HP:0007565,Multiple cafe-au-lait spots,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0000600,Abnormality of the pharynx,Occasional (29-5%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0000602,Ophthalmoplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0001260,Dysarthria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0003298,Spina bifida occulta,Frequent (79-30%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003971,Orphanet,2289,ORPHA:2289,18,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0001171,Split hand,Occasional (29-5%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0001760,Abnormal foot morphology,Frequent (79-30%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0001765,Hammertoe,Occasional (29-5%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0002174,Postural tremor,Occasional (29-5%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0002751,Kyphoscoliosis,Occasional (29-5%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0002936,Distal sensory impairment,Occasional (29-5%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0003431,Decreased motor nerve conduction velocity,Very frequent (99-80%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0003701,Proximal muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0007078,Decreased amplitude of sensory action potentials,Very frequent (99-80%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0007108,Demyelinating peripheral neuropathy,Very frequent (99-80%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0007210,Lower limb amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0008959,Distal upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0009053,Distal lower limb muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0009129,Upper limb amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003973,Orphanet,99950,ORPHA:99950,22,HP:0032649,Skewfoot,Occasional (29-5%),TAS,,,,"[PMID:24136616, PMID:28003645]",y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0001810,Dystrophic toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0001842,Foot acroosteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0002645,Wormian bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0002815,Abnormality of the knee,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0003028,Abnormality of the ankles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0003307,Hyperlordosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003976,Orphanet,970,ORPHA:970,15,HP:0008391,Dystrophic fingernails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0000385,Small earlobe,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0000523,Subcapsular cataract,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0000656,Ectropion,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0001397,Hepatic steatosis,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0001413,Micronodular cirrhosis,Occasional (29-5%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0001513,Obesity,Excluded (0%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0001638,Cardiomyopathy,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0001911,Abnormal granulocyte morphology,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0001946,Ketosis,Excluded (0%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0002155,Hypertriglyceridemia,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0002910,Elevated hepatic transaminase,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0002922,Increased CSF protein,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0003198,Myopathy,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0003458,EMG: myopathic abnormalities,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0003547,Shoulder girdle muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0007009,Central nervous system degeneration,Occasional (29-5%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0007479,Congenital nonbullous ichthyosiform erythroderma,Very frequent (99-80%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0009073,Progressive proximal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0012240,Increased intramyocellular lipid droplets,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0012472,Eclabion,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003979,Orphanet,98907,ORPHA:98907,32,HP:0040081,Abnormal circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:11251597, PMID:21045422, PMID:24836204, PMID:7362208]",y,y +GARD:0003981,Orphanet,86788,ORPHA:86788,3,HP:0001875,Neutropenia,Very frequent (99-80%),TAS,,,,[PMID:11242115],y,y +GARD:0003981,Orphanet,86788,ORPHA:86788,3,HP:0002718,Recurrent bacterial infections,Very frequent (99-80%),TAS,,,,[PMID:11242115],y,y +GARD:0003981,Orphanet,86788,ORPHA:86788,3,HP:0012312,Monocytopenia,Very frequent (99-80%),TAS,,,,[PMID:11242115],y,y +GARD:0003982,Orphanet,2690,ORPHA:2690,4,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003982,Orphanet,2690,ORPHA:2690,4,HP:0001874,Abnormality of neutrophils,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003982,Orphanet,2690,ORPHA:2690,4,HP:0004311,Abnormal macrophage morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003982,Orphanet,2690,ORPHA:2690,4,HP:0010978,Abnormality of immune system physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0000969,Edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0001034,Hypermelanotic macule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0001052,Nevus flammeus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0001269,Hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0001291,Abnormal cranial nerve morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0002204,Pulmonary embolism,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0002301,Hemiplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0002814,Abnormality of the lower limb,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0002817,Abnormality of the upper limb,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0004936,Venous thrombosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0005293,Venous insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0007400,Irregular hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0100026,Arteriovenous malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0200034,Papule,Frequent (79-30%),TAS,,,,,y,y +GARD:0003986,Orphanet,624,ORPHA:624,23,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0000366,Abnormality of the nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0000662,Nyctalopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0001100,Heterochromia iridis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0001276,Hypertonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0008046,Abnormal retinal vascular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0003994,Orphanet,1390,ORPHA:1390,23,HP:0200021,Down-sloping shoulders,Very frequent (99-80%),TAS,,,,,y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0000540,Hypermetropia,Occasional (29-5%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0000551,Color vision defect,Very rare (<4-1%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0000662,Nyctalopia,Very frequent (99-80%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0007703,Abnormality of retinal pigmentation,Very rare (<4-1%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0007984,Electronegative electroretinogram,Occasional (29-5%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0030329,Retinal thinning,Very rare (<4-1%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0030469,Abnormal dark-adapted electroretinogram,Very frequent (99-80%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0030483,Reduced amplitude of dark-adapted bright flash electroretinogram a-wave,Occasional (29-5%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0030638,Congenital stationary night blindness with normal fundus,Frequent (79-30%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0030639,Congenital stationary night blindness with abnormal fundus,Frequent (79-30%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0003995,Orphanet,215,ORPHA:215,15,HP:0031705,Compensatory head posture,Occasional (29-5%),TAS,,,,"[PMID:20301423, PMID:25307992, PMID:30578486]",y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0000093,Proteinuria,Frequent (79-30%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0000488,Retinopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0000532,Abnormal chorioretinal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0000544,External ophthalmoplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0000822,Hypertension,Frequent (79-30%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0001639,Hypertrophic cardiomyopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0003119,Abnormal circulating lipid concentration,Frequent (79-30%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0005978,Type II diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0007754,Macular dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004003,Orphanet,225,ORPHA:225,22,HP:0100820,Glomerulopathy,Frequent (79-30%),TAS,,,,,y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0000543,Optic disc pallor,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0000550,Undetectable electroretinogram,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0000750,Delayed speech and language development,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0001272,Cerebellar atrophy,Very frequent (99-80%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0002069,Bilateral tonic-clonic seizure,Occasional (29-5%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0002123,Generalized myoclonic seizure,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0002333,Motor deterioration,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0002371,Loss of speech,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0002384,Focal impaired awareness seizure,Occasional (29-5%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0002510,Spastic tetraplegia,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0002540,Inability to walk,Very frequent (99-80%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0003204,Intracellular accumulation of autofluorescent lipopigment storage material,Very frequent (99-80%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0003205,Curvilinear intracellular accumulation of autofluorescent lipopigment storage material,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0003208,Fingerprint intracellular accumulation of autofluorescent lipopigment storage material,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0003657,Granular osmiophilic deposits (GROD) in cells,Very frequent (99-80%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0003698,Difficulty standing,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0005268,Miscarriage,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0011198,EEG with generalized epileptiform discharges,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0011203,EEG with abnormally slow frequencies,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0012690,T2 hypointense thalamus,Occasional (29-5%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0030455,Abnormality of pattern visual evoked potentials,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0030890,Hyperintensity of cerebral white matter on MRI,Occasional (29-5%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0033044,Motor regression,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004010,Orphanet,1947,ORPHA:1947,41,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,"[PMID:30470609, PMID:30741402, PMID:31982899]",y,y +GARD:0004014,Orphanet,2703,ORPHA:2703,10,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004014,Orphanet,2703,ORPHA:2703,10,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0004014,Orphanet,2703,ORPHA:2703,10,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004014,Orphanet,2703,ORPHA:2703,10,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004014,Orphanet,2703,ORPHA:2703,10,HP:0002334,Abnormal cerebellar vermis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004014,Orphanet,2703,ORPHA:2703,10,HP:0005306,Capillary hemangioma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004014,Orphanet,2703,ORPHA:2703,10,HP:0010733,Naevus flammeus of the eyelid,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004014,Orphanet,2703,ORPHA:2703,10,HP:0011427,Enlarged fetal cisterna magna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004014,Orphanet,2703,ORPHA:2703,10,HP:0012157,Subcortical cerebral atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004014,Orphanet,2703,ORPHA:2703,10,HP:0100308,Cerebral cortical hemiatrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000015,Bladder diverticulum,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000270,Delayed cranial suture closure,Very frequent (99-80%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000494,Downslanted palpebral fissures,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000929,Abnormal skull morphology,Very frequent (99-80%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000974,Hyperextensible skin,Very frequent (99-80%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000978,Bruising susceptibility,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0000987,Atypical scarring of skin,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0001385,Hip dysplasia,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0001396,Cholestasis,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002036,Hiatus hernia,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002045,Hypothermia,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002208,Coarse hair,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002514,Cerebral calcification,Very frequent (99-80%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002578,Gastroparesis,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002617,Vascular dilatation,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002673,Coxa valga,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002748,Rickets,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002749,Osteomalacia,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002812,Coxa vara,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0002991,Abnormality of fibula morphology,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0003019,Abnormality of the wrist,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0003172,Abnormality of the pubic bone,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0003874,Humerus varus,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0004279,Short palm,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0004408,Abnormality of the sense of smell,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0005293,Venous insufficiency,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0005743,Avascular necrosis of the capital femoral epiphysis,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0006507,Aplasia/hypoplasia of the humerus,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0006660,Aplastic clavicle,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0008818,Large iliac wing,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0009556,Absent tibia,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0010562,Keloids,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0012115,Hepatitis,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0025270,Abnormal esophagus physiology,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0100240,Synostosis of joints,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0100541,Femoral hernia,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0100633,Esophagitis,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0100699,Scarring,Frequent (79-30%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0100777,Exostoses,Very frequent (99-80%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0100874,Thick hair,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004017,Orphanet,198,ORPHA:198,70,HP:0200021,Down-sloping shoulders,Occasional (29-5%),TAS,,,,[PMID:20301586],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0000289,Broad philtrum,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0000384,Preauricular skin tag,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0000456,Bifid nasal tip,Very frequent (99-80%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0000636,Upper eyelid coloboma,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0001140,Limbal dermoid,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0002084,Encephalocele,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0006931,Pericallosal lipoma,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0008551,Microtia,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0010609,Skin tags,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004031,Orphanet,398156,ORPHA:398156,22,HP:0410030,Cleft lip,Frequent (79-30%),TAS,,,,[PMID:18388775],y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0000091,Abnormal renal tubule morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0001107,Ocular albinism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0001874,Abnormality of neutrophils,Frequent (79-30%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0001931,Hypochromic anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0002363,Abnormal brainstem morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0003272,Abnormal hip bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0004349,Reduced bone mineral density,Occasional (29-5%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0007513,Generalized hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0010662,Abnormality of the diencephalon,Frequent (79-30%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0010978,Abnormality of immune system physiology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004034,Orphanet,2720,ORPHA:2720,26,HP:0011364,White hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0000613,Photophobia,Very frequent (99-80%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0000635,Blue irides,Very frequent (99-80%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0000646,Amblyopia,Frequent (79-30%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0000649,Abnormality of visual evoked potentials,Very frequent (99-80%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0001072,Thickened skin,Occasional (29-5%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0002226,White eyebrow,Frequent (79-30%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0002227,White eyelashes,Frequent (79-30%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0007513,Generalized hypopigmentation,Very frequent (99-80%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0007663,Reduced visual acuity,Very frequent (99-80%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0007680,Depigmented fundus,Very frequent (99-80%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0007730,Iris hypopigmentation,Very frequent (99-80%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0007750,Hypoplasia of the fovea,Very frequent (99-80%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0008069,Neoplasm of the skin,Very rare (<4-1%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0011358,Generalized hypopigmentation of hair,Very frequent (99-80%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0012805,Iris transillumination defect,Very frequent (99-80%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0025127,Actinic keratosis,Very rare (<4-1%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0025551,Optic nerve misrouting,Very frequent (99-80%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004037,Orphanet,352731,ORPHA:352731,21,HP:0025568,Abnormal morphology of the choroidal vasculature,Very frequent (99-80%),TAS,,,,"[PMID:20301345, PMID:24721949, PMID:30996339]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0000539,Abnormality of refraction,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0000613,Photophobia,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0000635,Blue irides,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0001100,Heterochromia iridis,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0001480,Freckling,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0002226,White eyebrow,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0002227,White eyelashes,Occasional (29-5%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0002671,Basal cell carcinoma,Occasional (29-5%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0005599,Hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0006739,Squamous cell carcinoma of the skin,Occasional (29-5%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0007481,Hyperpigmented nevi,Very rare (<4-1%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0007750,Hypoplasia of the fovea,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0007988,Macular hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0011364,White hair,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0012056,Cutaneous melanoma,Occasional (29-5%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0012805,Iris transillumination defect,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0025551,Optic nerve misrouting,Frequent (79-30%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0030856,Posterior staphyloma,Occasional (29-5%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004038,Orphanet,79432,ORPHA:79432,24,HP:0200098,Absent skin pigmentation,Occasional (29-5%),TAS,,,,"[PMID:26691042, PMID:29050284, PMID:31199599]",y,y +GARD:0004039,Orphanet,79433,ORPHA:79433,13,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:20301683, PMID:21739261, PMID:21996312, PMID:9345097]",y,y +GARD:0004039,Orphanet,79433,ORPHA:79433,13,HP:0000635,Blue irides,Frequent (79-30%),TAS,,,,"[PMID:20301683, PMID:21739261, PMID:21996312, PMID:9345097]",y,y +GARD:0004039,Orphanet,79433,ORPHA:79433,13,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:20301683, PMID:21739261, PMID:21996312, PMID:9345097]",y,y +GARD:0004039,Orphanet,79433,ORPHA:79433,13,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:20301683, PMID:21739261, PMID:21996312, PMID:9345097]",y,y +GARD:0004039,Orphanet,79433,ORPHA:79433,13,HP:0001480,Freckling,Frequent (79-30%),TAS,,,,"[PMID:20301683, PMID:21739261, PMID:21996312, PMID:9345097]",y,y +GARD:0004039,Orphanet,79433,ORPHA:79433,13,HP:0002226,White eyebrow,Occasional (29-5%),TAS,,,,"[PMID:20301683, PMID:21739261, PMID:21996312, PMID:9345097]",y,y +GARD:0004039,Orphanet,79433,ORPHA:79433,13,HP:0002227,White eyelashes,Occasional (29-5%),TAS,,,,"[PMID:20301683, PMID:21739261, PMID:21996312, PMID:9345097]",y,y +GARD:0004039,Orphanet,79433,ORPHA:79433,13,HP:0002297,Red hair,Frequent (79-30%),TAS,,,,"[PMID:20301683, PMID:21739261, PMID:21996312, PMID:9345097]",y,y +GARD:0004039,Orphanet,79433,ORPHA:79433,13,HP:0007730,Iris hypopigmentation,Frequent (79-30%),TAS,,,,"[PMID:20301683, PMID:21739261, PMID:21996312, PMID:9345097]",y,y +GARD:0004039,Orphanet,79433,ORPHA:79433,13,HP:0011358,Generalized hypopigmentation of hair,Frequent (79-30%),TAS,,,,"[PMID:20301683, PMID:21739261, PMID:21996312, PMID:9345097]",y,y +GARD:0004039,Orphanet,79433,ORPHA:79433,13,HP:0025551,Optic nerve misrouting,Occasional (29-5%),TAS,,,,"[PMID:20301683, PMID:21739261, PMID:21996312, PMID:9345097]",y,y +GARD:0004039,Orphanet,79433,ORPHA:79433,13,HP:0100814,Blue nevus,Occasional (29-5%),TAS,,,,"[PMID:20301683, PMID:21739261, PMID:21996312, PMID:9345097]",y,y +GARD:0004039,Orphanet,79433,ORPHA:79433,13,HP:0200098,Absent skin pigmentation,Occasional (29-5%),TAS,,,,"[PMID:20301683, PMID:21739261, PMID:21996312, PMID:9345097]",y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0000161,Median cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0000366,Abnormality of the nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0000492,Abnormal eyelid morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0000499,Abnormal eyelash morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0001181,Adducted thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0002006,Facial cleft,Frequent (79-30%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0003063,Abnormality of the humerus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0008056,Aplasia/Hypoplasia affecting the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0004046,Orphanet,1794,ORPHA:1794,21,HP:0200102,Sparse or absent eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0000512,Abnormal electroretinogram,Frequent (79-30%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0000602,Ophthalmoplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0000767,Pectus excavatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0001166,Arachnodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0001776,Bilateral talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0004097,Deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0005879,Congenital finger flexion contractures,Frequent (79-30%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0010489,Absent palmar crease,Frequent (79-30%),TAS,,,,,y,y +GARD:0004047,Orphanet,1154,ORPHA:1154,17,HP:0010751,Dimple chin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0000154,Wide mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0000298,Mask-like facies,Occasional (29-5%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0000400,Macrotia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0001264,Spastic diplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0001266,Choreoathetosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0002187,"Intellectual disability, profound",Very frequent (99-80%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0008046,Abnormal retinal vascular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0009748,Large earlobe,Occasional (29-5%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0010620,Malar prominence,Frequent (79-30%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0010669,Hypoplasia of the zygomatic bone,Frequent (79-30%),TAS,,,,,y,y +GARD:0004050,Orphanet,2715,ORPHA:2715,29,HP:0100820,Glomerulopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004051,Orphanet,2722,ORPHA:2722,11,HP:0000691,Microdontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004051,Orphanet,2722,ORPHA:2722,11,HP:0000692,Tooth malposition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004051,Orphanet,2722,ORPHA:2722,11,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004051,Orphanet,2722,ORPHA:2722,11,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004051,Orphanet,2722,ORPHA:2722,11,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004051,Orphanet,2722,ORPHA:2722,11,HP:0001800,Hypoplastic toenails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004051,Orphanet,2722,ORPHA:2722,11,HP:0002231,Sparse body hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004051,Orphanet,2722,ORPHA:2722,11,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004051,Orphanet,2722,ORPHA:2722,11,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004051,Orphanet,2722,ORPHA:2722,11,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004051,Orphanet,2722,ORPHA:2722,11,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004053,Orphanet,1811,ORPHA:1811,7,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004053,Orphanet,1811,ORPHA:1811,7,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004053,Orphanet,1811,ORPHA:1811,7,HP:0001799,Short nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004053,Orphanet,1811,ORPHA:1811,7,HP:0001816,Thin nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004053,Orphanet,1811,ORPHA:1811,7,HP:0006323,Premature loss of primary teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004053,Orphanet,1811,ORPHA:1811,7,HP:0006337,Premature eruption of permanent teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004053,Orphanet,1811,ORPHA:1811,7,HP:0008383,Slow-growing nails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0000185,Cleft soft palate,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0000191,Accessory oral frenulum,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0000506,Telecanthus,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0001440,Metatarsal synostosis,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0002990,Fibular aplasia,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0004987,Mesomelic leg shortening,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0005011,Mesomelic arm shortening,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0005736,Short tibia,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0005873,Polysyndactyly of hallux,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0006114,Multiple palmar creases,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0006434,Hypoplasia of proximal radius,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0008368,Tarsal synostosis,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0008386,Aplasia/Hypoplasia of the nails,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0009280,Short 4th finger,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0009486,Radial deviation of the hand,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0009942,Duplication of thumb phalanx,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0012165,Oligodactyly,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0012428,Prominent calcaneus,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004061,Orphanet,2756,ORPHA:2756,26,HP:0100258,Preaxial polydactyly,Frequent (79-30%),TAS,,,,"[PMID:27141300, PMID:8261648]",y,y +GARD:0004062,Orphanet,1186,ORPHA:1186,7,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004062,Orphanet,1186,ORPHA:1186,7,HP:0000602,Ophthalmoplegia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004062,Orphanet,1186,ORPHA:1186,7,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004062,Orphanet,1186,ORPHA:1186,7,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004062,Orphanet,1186,ORPHA:1186,7,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004062,Orphanet,1186,ORPHA:1186,7,HP:0002270,Abnormality of the autonomic nervous system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004062,Orphanet,1186,ORPHA:1186,7,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000074,Ureteropelvic junction obstruction,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000126,Hydronephrosis,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000136,Bifid uterus,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000194,Open mouth,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000336,Prominent supraorbital ridges,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000465,Webbed neck,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000483,Astigmatism,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000637,Long palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0000998,Hypertrichosis,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001090,Abnormally large globe,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001270,Motor delay,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001385,Hip dysplasia,Frequent (79-30%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001539,Omphalocele,Frequent (79-30%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001627,Abnormal heart morphology,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001711,Abnormal left ventricle morphology,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0002025,Anal stenosis,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0002144,Tethered cord,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0002219,Facial hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0002711,Exaggerated median tongue furrow,Frequent (79-30%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0003396,Syringomyelia,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0005325,Extension of hair growth on temples to lateral eyebrow,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0005487,Prominent metopic ridge,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0005989,Redundant neck skin,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0008850,Severe postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0008947,Infantile muscular hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0010442,Polydactyly,Frequent (79-30%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0010445,Primum atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0010804,Tented upper lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0010807,Open bite,Frequent (79-30%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0011039,Abnormal helix morphology,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0012583,Unilateral renal hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004064,Orphanet,2729,ORPHA:2729,62,HP:0100876,Infra-orbital crease,Occasional (29-5%),TAS,,,,"[PMID:19046188, PMID:20179579, PMID:23591295, PMID:27552167, PMID:30793470]",y,y +GARD:0004065,Orphanet,2730,ORPHA:2730,4,HP:0001167,Abnormality of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004065,Orphanet,2730,ORPHA:2730,4,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004065,Orphanet,2730,ORPHA:2730,4,HP:0012165,Oligodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004065,Orphanet,2730,ORPHA:2730,4,HP:0100257,Ectrodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0000092,Renal tubular atrophy,Frequent (79-30%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0000093,Proteinuria,Very frequent (99-80%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0000122,Unilateral renal agenesis,Very rare (<4-1%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0000271,Abnormality of the face,Very rare (<4-1%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0000347,Micrognathia,Very rare (<4-1%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0000588,Optic disc coloboma,Very rare (<4-1%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0000776,Congenital diaphragmatic hernia,Very rare (<4-1%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0000822,Hypertension,Very rare (<4-1%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0001684,Secundum atrial septal defect,Very rare (<4-1%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0002089,Pulmonary hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0003259,Elevated circulating creatinine concentration,Very frequent (99-80%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0003774,Stage 5 chronic kidney disease,Frequent (79-30%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0005563,Decreased numbers of nephrons,Very frequent (99-80%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0006518,Pulmonary venous occlusion,Very rare (<4-1%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0009796,Branchial cyst,Very rare (<4-1%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0011035,Abnormal renal cortex morphology,Frequent (79-30%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0012213,Decreased glomerular filtration rate,Very frequent (99-80%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0012575,Abnormal nephron morphology,Very frequent (99-80%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0012584,Bilateral renal hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0012758,Neurodevelopmental delay,Very rare (<4-1%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0025361,Abnormality of medullary pyramid morphology,Frequent (79-30%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0030162,Glomerulomegaly,Very frequent (99-80%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004066,Orphanet,2260,ORPHA:2260,30,HP:0040064,Abnormality of limbs,Very rare (<4-1%),TAS,,,,"[PMID:24765519, PMID:25731007, PMID:32520748]",y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0000218,High palate,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0000385,Small earlobe,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0000387,Absent earlobe,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0000574,Thick eyebrow,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0001212,Prominent fingertip pads,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0001812,Hyperconvex fingernails,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0001830,Postaxial foot polydactyly,Frequent (79-30%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0002187,"Intellectual disability, profound",Very frequent (99-80%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0002465,Poor speech,Frequent (79-30%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0002987,Elbow flexion contracture,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0010554,Cutaneous finger syndactyly,Frequent (79-30%),TAS,,,,[PMID:16278897],y,y +GARD:0004069,Orphanet,2920,ORPHA:2920,25,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,[PMID:16278897],y,y +GARD:0004070,Orphanet,2732,ORPHA:2732,14,HP:0000365,Hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004070,Orphanet,2732,ORPHA:2732,14,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004070,Orphanet,2732,ORPHA:2732,14,HP:0000567,Chorioretinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0004070,Orphanet,2732,ORPHA:2732,14,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004070,Orphanet,2732,ORPHA:2732,14,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004070,Orphanet,2732,ORPHA:2732,14,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0004070,Orphanet,2732,ORPHA:2732,14,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004070,Orphanet,2732,ORPHA:2732,14,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004070,Orphanet,2732,ORPHA:2732,14,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004070,Orphanet,2732,ORPHA:2732,14,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004070,Orphanet,2732,ORPHA:2732,14,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004070,Orphanet,2732,ORPHA:2732,14,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004070,Orphanet,2732,ORPHA:2732,14,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0004070,Orphanet,2732,ORPHA:2732,14,HP:0002542,Olivopontocerebellar atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0000514,Slow saccadic eye movements,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0000597,Ophthalmoparesis,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0001310,Dysmetria,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0001350,Slurred speech,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0002075,Dysdiadochokinesis,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0002174,Postural tremor,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0002354,Memory impairment,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0002363,Abnormal brainstem morphology,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0002483,Bulbar signs,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0006801,Hyperactive deep tendon reflexes,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0007001,Loss of Purkinje cells in the cerebellar vermis,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0007338,Hypermetric saccades,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0007366,Atrophy/Degeneration affecting the brainstem,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0007377,Abnormality of somatosensory evoked potentials,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0007928,Abnormal flash visual evoked potentials,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0009830,Peripheral neuropathy,Very frequent (99-80%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0010831,Impaired proprioception,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0025331,Upgaze palsy,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0025401,Staring gaze,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0030216,Inertia,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0040129,Abnormal nerve conduction velocity,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,[PMID:20301363],y,y +GARD:0004071,Orphanet,98755,ORPHA:98755,40,HP:0410011,Abnormality of masticatory muscle,Occasional (29-5%),TAS,,,,[PMID:20301363],y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0000514,Slow saccadic eye movements,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0000597,Ophthalmoparesis,Occasional (29-5%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0000623,Supranuclear ophthalmoplegia,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0002072,Chorea,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0002380,Fasciculations,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0002536,Abnormal cortical gyration,Occasional (29-5%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0003133,Abnormality of the spinocerebellar tracts,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0003394,Muscle spasm,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0006801,Hyperactive deep tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0006955,Olivopontocerebellar hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0008311,Spinal cord posterior columns myelin loss,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0012082,Cerebellar Purkinje layer atrophy,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0012762,Cerebral white matter atrophy,Occasional (29-5%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0025461,Abnormal cell morphology,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0030186,Kinetic tremor,Frequent (79-30%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004072,Orphanet,98756,ORPHA:98756,27,HP:0045007,Abnormal substantia nigra morphology,Very frequent (99-80%),TAS,,,,"[PMID:12847080, PMID:20301452, PMID:2392220, PMID:2809629, PMID:9106530, PMID:9158145]",y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0000157,Abnormality of the tongue,Occasional (29-5%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0000168,Abnormality of the gingiva,Occasional (29-5%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0000970,Anhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0002797,Osteolysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0007410,Palmoplantar hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0011830,Abnormal oral mucosa morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0031013,Ankylosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0031057,Skin fissure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0100526,Neoplasm of the lung,Occasional (29-5%),TAS,,,,,y,y +GARD:0004075,Orphanet,659,ORPHA:659,23,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0001059,Pterygium,Occasional (29-5%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0002818,Abnormality of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0002823,Abnormality of femur morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0002983,Micromelia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0003027,Mesomelia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0003196,Short nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0005025,Hypoplastic distal humeri,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0010880,Increased nuchal translucency,Occasional (29-5%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004076,Orphanet,93329,ORPHA:93329,24,HP:0100790,Hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004079,Orphanet,2736,ORPHA:2736,8,HP:0000136,Bifid uterus,Frequent (79-30%),TAS,,,,"[PMID:17638618, PMID:26867152, PMID:6873946]",y,y +GARD:0004079,Orphanet,2736,ORPHA:2736,8,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,"[PMID:17638618, PMID:26867152, PMID:6873946]",y,y +GARD:0004079,Orphanet,2736,ORPHA:2736,8,HP:0000185,Cleft soft palate,Frequent (79-30%),TAS,,,,"[PMID:17638618, PMID:26867152, PMID:6873946]",y,y +GARD:0004079,Orphanet,2736,ORPHA:2736,8,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,"[PMID:17638618, PMID:26867152, PMID:6873946]",y,y +GARD:0004079,Orphanet,2736,ORPHA:2736,8,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,"[PMID:17638618, PMID:26867152, PMID:6873946]",y,y +GARD:0004079,Orphanet,2736,ORPHA:2736,8,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:17638618, PMID:26867152, PMID:6873946]",y,y +GARD:0004079,Orphanet,2736,ORPHA:2736,8,HP:0001539,Omphalocele,Very frequent (99-80%),TAS,,,,"[PMID:17638618, PMID:26867152, PMID:6873946]",y,y +GARD:0004079,Orphanet,2736,ORPHA:2736,8,HP:0100333,Unilateral cleft lip,Frequent (79-30%),TAS,,,,"[PMID:17638618, PMID:26867152, PMID:6873946]",y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0000056,Abnormality of the clitoris,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0000070,Ureterocele,Occasional (29-5%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0000072,Hydroureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0000074,Ureteropelvic junction obstruction,Occasional (29-5%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0000076,Vesicoureteral reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0000086,Ectopic kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0001539,Omphalocele,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0002414,Spina bifida,Frequent (79-30%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0002475,Myelomeningocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0002566,Intestinal malrotation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0002836,Bladder exstrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0002937,Hemivertebrae,Frequent (79-30%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0002991,Abnormality of fibula morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0002992,Abnormality of tibia morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0010475,Cloacal exstrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0011027,Abnormal fallopian tube morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0011301,Absent foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0004080,Orphanet,93929,ORPHA:93929,24,HP:0100668,Intestinal duplication,Frequent (79-30%),TAS,,,,,y,y +GARD:0004083,Orphanet,1487,ORPHA:1487,8,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004083,Orphanet,1487,ORPHA:1487,8,HP:0001171,Split hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004083,Orphanet,1487,ORPHA:1487,8,HP:0001199,Triphalangeal thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004083,Orphanet,1487,ORPHA:1487,8,HP:0001810,Dystrophic toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004083,Orphanet,1487,ORPHA:1487,8,HP:0008388,Abnormal toenail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004083,Orphanet,1487,ORPHA:1487,8,HP:0008391,Dystrophic fingernails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004083,Orphanet,1487,ORPHA:1487,8,HP:0010624,Aplastic/hypoplastic toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004083,Orphanet,1487,ORPHA:1487,8,HP:0011304,Broad thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0000239,Large fontanelles,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0000256,Macrocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0003173,Hypoplastic pubic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0003175,Hypoplastic ischia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0003177,Squared iliac bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0005469,Flat occiput,Frequent (79-30%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0008479,Hypoplastic vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0004098,Orphanet,2746,ORPHA:2746,27,HP:0100569,Abnormally ossified vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004106,Orphanet,1475,ORPHA:1475,14,HP:0000003,Multicystic kidney dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004106,Orphanet,1475,ORPHA:1475,14,HP:0000076,Vesicoureteral reflux,Frequent (79-30%),TAS,,,,,y,y +GARD:0004106,Orphanet,1475,ORPHA:1475,14,HP:0000083,Renal insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004106,Orphanet,1475,ORPHA:1475,14,HP:0000089,Renal hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004106,Orphanet,1475,ORPHA:1475,14,HP:0000110,Renal dysplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004106,Orphanet,1475,ORPHA:1475,14,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004106,Orphanet,1475,ORPHA:1475,14,HP:0000480,Retinal coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0004106,Orphanet,1475,ORPHA:1475,14,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004106,Orphanet,1475,ORPHA:1475,14,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004106,Orphanet,1475,ORPHA:1475,14,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004106,Orphanet,1475,ORPHA:1475,14,HP:0000588,Optic disc coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0004106,Orphanet,1475,ORPHA:1475,14,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004106,Orphanet,1475,ORPHA:1475,14,HP:0001093,Optic nerve dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004106,Orphanet,1475,ORPHA:1475,14,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0001067,Neurofibromas,Frequent (79-30%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0001085,Papilledema,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0001123,Visual field defect,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0002315,Headache,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0002376,Developmental regression,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0003473,Fatigable weakness,Occasional (29-5%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004107,Orphanet,2086,ORPHA:2086,23,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:27082859, PMID:28847625, PMID:28984541, PMID:29246098]",y,y +GARD:0004119,Orphanet,85286,ORPHA:85286,12,HP:0000053,Macroorchidism,Very frequent (99-80%),TAS,,,,[PMID:10677307],y,y +GARD:0004119,Orphanet,85286,ORPHA:85286,12,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,[PMID:10677307],y,y +GARD:0004119,Orphanet,85286,ORPHA:85286,12,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,[PMID:10677307],y,y +GARD:0004119,Orphanet,85286,ORPHA:85286,12,HP:0000336,Prominent supraorbital ridges,Very frequent (99-80%),TAS,,,,[PMID:10677307],y,y +GARD:0004119,Orphanet,85286,ORPHA:85286,12,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,[PMID:10677307],y,y +GARD:0004119,Orphanet,85286,ORPHA:85286,12,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,[PMID:10677307],y,y +GARD:0004119,Orphanet,85286,ORPHA:85286,12,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,[PMID:10677307],y,y +GARD:0004119,Orphanet,85286,ORPHA:85286,12,HP:0000750,Delayed speech and language development,Very frequent (99-80%),TAS,,,,[PMID:10677307],y,y +GARD:0004119,Orphanet,85286,ORPHA:85286,12,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:10677307],y,y +GARD:0004119,Orphanet,85286,ORPHA:85286,12,HP:0001513,Obesity,Very frequent (99-80%),TAS,,,,[PMID:10677307],y,y +GARD:0004119,Orphanet,85286,ORPHA:85286,12,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,[PMID:10677307],y,y +GARD:0004119,Orphanet,85286,ORPHA:85286,12,HP:0100540,Palpebral edema,Very frequent (99-80%),TAS,,,,[PMID:10677307],y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0000161,Median cleft lip,Very frequent (99-80%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0000185,Cleft soft palate,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0000190,Abnormal oral frenulum morphology,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0000191,Accessory oral frenulum,Frequent (79-30%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0000193,Bifid uvula,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0000288,Abnormality of the philtrum,Frequent (79-30%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0001830,Postaxial foot polydactyly,Very frequent (99-80%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0002705,"High, narrow palate",Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0004736,Crossed fused renal ectopia,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0005817,Postaxial polysyndactyly of foot,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0006297,Enamel hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0010297,Bifid tongue,Frequent (79-30%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0010441,Ectopic accessory finger-like appendage,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0010800,Absent cupid's bow,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0012738,Agenesis of canine,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004120,Orphanet,2919,ORPHA:2919,27,HP:0100335,Non-midline cleft lip,Occasional (29-5%),TAS,,,,"[PMID:16731396, PMID:20305860, PMID:23524810, PMID:23972372, PMID:7426821]",y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000003,Multicystic kidney dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000093,Proteinuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000161,Median cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000180,Lobulated tongue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000187,Broad alveolar ridges,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000191,Accessory oral frenulum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000199,Tongue nodules,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000324,Facial asymmetry,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000389,Chronic otitis media,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000506,Telecanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000668,Hypodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000929,Abnormal skull morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0000958,Dry skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001056,Milia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001161,Hand polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001162,Postaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001596,Alopecia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001732,Abnormality of the pancreas,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001737,Pancreatic cysts,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001738,Exocrine pancreatic insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001829,Foot polydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0002208,Coarse hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0002299,Brittle hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0002617,Vascular dilatation,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0004097,Deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0008070,Sparse hair,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0008368,Tarsal synostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0010579,Cone-shaped epiphysis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0010669,Hypoplasia of the zygomatic bone,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0010807,Open bite,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0011802,Hamartoma of tongue,Frequent (79-30%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0100267,Lip pit,Occasional (29-5%),TAS,,,,,y,y +GARD:0004121,Orphanet,2750,ORPHA:2750,65,HP:0100612,Odontogenic neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0004129,Orphanet,2760,ORPHA:2760,7,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004129,Orphanet,2760,ORPHA:2760,7,HP:0001874,Abnormality of neutrophils,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004129,Orphanet,2760,ORPHA:2760,7,HP:0002669,Osteosarcoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004129,Orphanet,2760,ORPHA:2760,7,HP:0002974,Radioulnar synostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004129,Orphanet,2760,ORPHA:2760,7,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0004129,Orphanet,2760,ORPHA:2760,7,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0004129,Orphanet,2760,ORPHA:2760,7,HP:0005518,Increased mean corpuscular volume,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0000162,Glossoptosis,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0000518,Cataract,Excluded (0%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0000540,Hypermetropia,Very rare (<4-1%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0000541,Retinal detachment,Excluded (0%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0001367,Abnormal joint morphology,Very frequent (99-80%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0001561,Polyhydramnios,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0002656,Epiphyseal dysplasia,Frequent (79-30%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0002758,Osteoarthritis,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0002834,Flared femoral metaphysis,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0002938,Lumbar hyperlordosis,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0002982,Tibial bowing,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0003037,Enlarged joints,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0003417,Coronal cleft vertebrae,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0003468,Abnormal vertebral morphology,Very frequent (99-80%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0003498,Disproportionate short stature,Very frequent (99-80%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0006375,Dumbbell-shaped femur,Frequent (79-30%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0007964,Degenerative vitreoretinopathy,Excluded (0%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0009803,Short phalanx of finger,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0009826,Limb undergrowth,Frequent (79-30%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0010049,Short metacarpal,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0010502,Fibular bowing,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0011003,High myopia,Excluded (0%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0011314,Abnormality of long bone morphology,Frequent (79-30%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0011867,Abnormal iliac wing morphology,Frequent (79-30%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0012368,Flat face,Frequent (79-30%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0025573,Mild myopia,Very rare (<4-1%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0040163,Abnormal pelvis bone morphology,Very frequent (99-80%),TAS,,,,[PMID:32341816],y,y +GARD:0004130,Orphanet,1427,ORPHA:1427,43,HP:0100569,Abnormally ossified vertebrae,Occasional (29-5%),TAS,,,,[PMID:32341816],y,y +GARD:0004131,Orphanet,3314,ORPHA:3314,5,HP:0000944,Abnormality of the metaphysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004131,Orphanet,3314,ORPHA:3314,5,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004131,Orphanet,3314,ORPHA:3314,5,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0004131,Orphanet,3314,ORPHA:3314,5,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004131,Orphanet,3314,ORPHA:3314,5,HP:0010885,Avascular necrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0000307,Pointed chin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0000309,Abnormality of the midface,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0000363,Abnormal earlobe morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0000414,Bulbous nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0000692,Tooth malposition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0000921,Missing ribs,Frequent (79-30%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0002149,Hyperuricemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0002659,Increased susceptibility to fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0003042,Elbow dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0003189,Long nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0005613,Aplasia/hypoplasia of the femur,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0006352,Failure of eruption of permanent teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0006660,Aplastic clavicle,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0009748,Large earlobe,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0010443,Bifid femur,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004136,Orphanet,2769,ORPHA:2769,31,HP:0010668,Abnormal zygomatic bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0000062,Ambiguous genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0001195,Single umbilical artery,Frequent (79-30%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0002269,Abnormality of neuronal migration,Frequent (79-30%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0002757,Recurrent fractures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0004383,Hypoplastic left heart,Occasional (29-5%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0005474,Decreased calvarial ossification,Frequent (79-30%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Occasional (29-5%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0008736,Hypoplasia of penis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004139,Orphanet,2772,ORPHA:2772,21,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0000453,Choanal atresia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0000889,Abnormal clavicle morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0001363,Craniosynostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0006283,Multiple unerupted teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0008905,Rhizomelia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004142,Orphanet,2645,ORPHA:2645,20,HP:0011849,Abnormal bone ossification,Occasional (29-5%),TAS,,,,,y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000176,Submucous cleft hard palate,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000193,Bifid uvula,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000239,Large fontanelles,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000358,Posteriorly rotated ears,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000369,Low-set ears,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0001555,Asymmetry of the thorax,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0002300,Mutism,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0002357,Dysphasia,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0002381,Aphasia,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0002514,Cerebral calcification,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0002684,Thickened calvaria,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0003510,Severe short stature,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0005465,Facial hyperostosis,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0005469,Flat occiput,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0008808,High iliac wing,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0008818,Large iliac wing,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0010529,Echolalia,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0011002,Osteopetrosis,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0012368,Flat face,Occasional (29-5%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004148,Orphanet,2780,ORPHA:2780,45,HP:0100670,Coarse metaphyseal trabecularization,Very frequent (99-80%),TAS,,,,"[PMID:15266607, PMID:19079258]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000179,Thick lower lip vermilion,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000248,Brachycephaly,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000278,Retrognathia,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000347,Micrognathia,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000400,Macrotia,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000405,Conductive hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000479,Abnormal retinal morphology,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000692,Tooth malposition,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0000867,Secondary hyperparathyroidism,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0001105,Retinal atrophy,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0001293,Cranial nerve compression,Frequent (79-30%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0001328,Specific learning disability,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0001357,Plagiocephaly,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0001562,Oligohydramnios,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0001942,Metabolic acidosis,Very rare (<4-1%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0001947,Renal tubular acidosis,Very frequent (99-80%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0002049,Proximal renal tubular acidosis,Frequent (79-30%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0002092,Pulmonary arterial hypertension,Very rare (<4-1%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0002135,Basal ganglia calcification,Frequent (79-30%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0002273,Tetraparesis,Very rare (<4-1%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0002518,Abnormal periventricular white matter morphology,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0002684,Thickened calvaria,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0002870,Obstructive sleep apnea,Very rare (<4-1%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0002901,Hypocalcemia,Frequent (79-30%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0003148,Elevated serum acid phosphatase,Frequent (79-30%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0003236,Elevated circulating creatine kinase concentration,Frequent (79-30%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0004445,Elliptocytosis,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0005461,Craniofacial disproportion,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0006335,Persistence of primary teeth,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0006641,Prominent floating ribs,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0008341,Distal renal tubular acidosis,Frequent (79-30%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0010864,"Intellectual disability, severe",Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0011002,Osteopetrosis,Very frequent (99-80%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0011220,Prominent forehead,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0012181,Entrapment neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0012370,Prominence of the zygomatic bone,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0012379,Abnormal enzyme/coenzyme activity,Very frequent (99-80%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0025356,Psychomotor retardation,Frequent (79-30%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004154,Orphanet,2785,ORPHA:2785,60,HP:0030812,Enlarged tonsils,Occasional (29-5%),TAS,,,,"[PMID:28761241, PMID:29571443, PMID:30109220]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0000164,Abnormality of the dentition,Very rare (<4-1%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0000505,Visual impairment,Very rare (<4-1%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0000689,Dental malocclusion,Very rare (<4-1%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0000707,Abnormality of the nervous system,Occasional (29-5%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0001293,Cranial nerve compression,Very rare (<4-1%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0001433,Hepatosplenomegaly,Very rare (<4-1%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0001873,Thrombocytopenia,Excluded (0%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0002659,Increased susceptibility to fractures,Frequent (79-30%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0002754,Osteomyelitis,Very rare (<4-1%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0002757,Recurrent fractures,Frequent (79-30%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0002901,Hypocalcemia,Excluded (0%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0003155,Elevated circulating alkaline phosphatase concentration,Occasional (29-5%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0003418,Back pain,Frequent (79-30%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0004348,Abnormality of bone mineral density,Very frequent (99-80%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0004618,Sandwich appearance of vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0004975,Erlenmeyer flask deformity of the femurs,Frequent (79-30%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0005652,Cortical sclerosis,Frequent (79-30%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0005746,Osteosclerosis of the base of the skull,Frequent (79-30%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0005789,Generalized osteosclerosis,Frequent (79-30%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0006482,Abnormality of dental morphology,Very rare (<4-1%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0007958,Optic atrophy from cranial nerve compression,Very rare (<4-1%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004156,Orphanet,210110,ORPHA:210110,23,HP:0031035,Chronic infection,Very rare (<4-1%),TAS,,,,"[PMID:17404618, PMID:20301306, PMID:28819563, PMID:28975865]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0000384,Preauricular skin tag,Very rare (<4-1%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0000541,Retinal detachment,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0000592,Blue sclerae,Very rare (<4-1%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0000939,Osteoporosis,Very frequent (99-80%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0001141,Severely reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0001388,Joint laxity,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0002645,Wormian bones,Occasional (29-5%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0002659,Increased susceptibility to fractures,Very frequent (99-80%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0003016,Metaphyseal widening,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0003366,Abnormal femoral neck/head morphology,Occasional (29-5%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0004327,Abnormal vitreous humor morphology,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0006367,Crumpled long bones,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0006934,Congenital nystagmus,Occasional (29-5%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0006957,Loss of ability to walk,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0007875,Congenital blindness,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0007898,Exudative retinopathy,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0008236,Isosexual precocious puberty,Very rare (<4-1%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0012052,Low serum calcitriol,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0012109,Angle closure glaucoma,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0030490,Exudative vitreoretinopathy,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0030515,Moderately reduced visual acuity,Very rare (<4-1%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0030551,Visual acuity light perception with projection,Occasional (29-5%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0030680,Abnormality of cardiovascular system morphology,Very rare (<4-1%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004160,Orphanet,2788,ORPHA:2788,34,HP:0040069,Abnormal lower limb bone morphology,Frequent (79-30%),TAS,,,,"[PMID:1025282, PMID:1261071, PMID:27245540, PMID:28145787, PMID:30499050, PMID:3698335, PMID:3955857, PMID:4028503]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0000009,Functional abnormality of the bladder,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0000011,Neurogenic bladder,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0000016,Urinary retention,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0000020,Urinary incontinence,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0000707,Abnormality of the nervous system,Very frequent (99-80%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0002141,Gait imbalance,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0002196,Myelopathy,Very frequent (99-80%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0002317,Unsteady gait,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0002318,Cervical myelopathy,Very rare (<4-1%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0002355,Difficulty walking,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0002607,Bowel incontinence,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0003401,Paresthesia,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0003418,Back pain,Frequent (79-30%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0003419,Low back pain,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0004947,Arteriovenous fistula,Very frequent (99-80%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0007199,Progressive spastic paraparesis,Frequent (79-30%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0007340,Lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0008944,Distal lower limb amyotrophy,Very rare (<4-1%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0012423,Colonic inertia,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0012486,Myelitis,Frequent (79-30%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0012534,Dysesthesia,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0012703,Abnormal subarachnoid space morphology,Very frequent (99-80%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0012721,Venous malformation,Very frequent (99-80%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0030014,Female sexual dysfunction,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0040272,Hyperintensity of MRI T2 signal of the spinal cord,Very frequent (99-80%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0040307,Male sexual dysfunction,Occasional (29-5%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004163,Orphanet,79093,ORPHA:79093,33,HP:0100561,Spinal cord lesion,Very frequent (99-80%),TAS,,,,"[PMID:28673891, PMID:33457368, PMID:34178190]",y,y +GARD:0004166,Orphanet,1338,ORPHA:1338,6,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004166,Orphanet,1338,ORPHA:1338,6,HP:0001233,2-3 finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004166,Orphanet,1338,ORPHA:1338,6,HP:0001643,Patent ductus arteriosus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004166,Orphanet,1338,ORPHA:1338,6,HP:0001682,Subvalvular aortic stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004166,Orphanet,1338,ORPHA:1338,6,HP:0011802,Hamartoma of tongue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004166,Orphanet,1338,ORPHA:1338,6,HP:0100835,Benign neoplasm of the central nervous system,Frequent (79-30%),TAS,,,,,y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000293,Full cheeks,Frequent (79-30%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000326,Abnormality of the maxilla,Frequent (79-30%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000408,Progressive sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000480,Retinal coloboma,Occasional (29-5%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000482,Microcornea,Occasional (29-5%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000568,Microphthalmia,Occasional (29-5%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000670,Carious teeth,Very frequent (99-80%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000679,Taurodontia,Frequent (79-30%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0000704,Periodontitis,Frequent (79-30%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0001757,High-frequency sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0003771,Pulp calcification,Frequent (79-30%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0006479,Abnormal dental pulp morphology,Very frequent (99-80%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0011051,Agenesis of premolar,Frequent (79-30%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0011068,Odontoma,Occasional (29-5%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0011070,Abnormal molar morphology,Very frequent (99-80%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0011078,Abnormality of canine,Very frequent (99-80%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0031353,Otitis media with effusion,Occasional (29-5%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004168,Orphanet,2791,ORPHA:2791,26,HP:0100719,Lens coloboma,Occasional (29-5%),TAS,,,,"[PMID:11552150, PMID:1175318, PMID:12147582, PMID:16722606, PMID:28151902, PMID:5255997, PMID:6585292, PMID:7227680]",y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0000413,Atresia of the external auditory canal,Occasional (29-5%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0000889,Abnormal clavicle morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0001276,Hypertonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0003691,Scapular winging,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0004467,Preauricular pit,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0009738,Abnormal antihelix morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004169,Orphanet,2792,ORPHA:2792,23,HP:0200021,Down-sloping shoulders,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004170,Orphanet,2793,ORPHA:2793,13,HP:0000268,Dolichocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004170,Orphanet,2793,ORPHA:2793,13,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004170,Orphanet,2793,ORPHA:2793,13,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,,y,y +GARD:0004170,Orphanet,2793,ORPHA:2793,13,HP:0000940,Abnormal diaphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004170,Orphanet,2793,ORPHA:2793,13,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0004170,Orphanet,2793,ORPHA:2793,13,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004170,Orphanet,2793,ORPHA:2793,13,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004170,Orphanet,2793,ORPHA:2793,13,HP:0006380,Knee flexion contracture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004170,Orphanet,2793,ORPHA:2793,13,HP:0008577,Underfolded helix,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004170,Orphanet,2793,ORPHA:2793,13,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004170,Orphanet,2793,ORPHA:2793,13,HP:0009756,Popliteal pterygium,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004170,Orphanet,2793,ORPHA:2793,13,HP:0009906,Aplasia/Hypoplasia of the earlobes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004170,Orphanet,2793,ORPHA:2793,13,HP:0011039,Abnormal helix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004176,Orphanet,1179,ORPHA:1179,3,HP:0000496,Abnormality of eye movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004176,Orphanet,1179,ORPHA:1179,3,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004176,Orphanet,1179,ORPHA:1179,3,HP:0002131,Episodic ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004183,Orphanet,3203,ORPHA:3203,11,HP:0001046,Intermittent jaundice,Occasional (29-5%),TAS,,,,"[PMID:15180870, PMID:21859730, PMID:28447420, PMID:29559519, PMID:31364155]",y,y +GARD:0004183,Orphanet,3203,ORPHA:3203,11,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:15180870, PMID:21859730, PMID:28447420, PMID:29559519, PMID:31364155]",y,y +GARD:0004183,Orphanet,3203,ORPHA:3203,11,HP:0001878,Hemolytic anemia,Very frequent (99-80%),TAS,,,,"[PMID:15180870, PMID:21859730, PMID:28447420, PMID:29559519, PMID:31364155]",y,y +GARD:0004183,Orphanet,3203,ORPHA:3203,11,HP:0001923,Reticulocytosis,Very frequent (99-80%),TAS,,,,"[PMID:15180870, PMID:21859730, PMID:28447420, PMID:29559519, PMID:31364155]",y,y +GARD:0004183,Orphanet,3203,ORPHA:3203,11,HP:0001977,Abnormal thrombosis,Occasional (29-5%),TAS,,,,"[PMID:15180870, PMID:21859730, PMID:28447420, PMID:29559519, PMID:31364155]",y,y +GARD:0004183,Orphanet,3203,ORPHA:3203,11,HP:0004446,Stomatocytosis,Very frequent (99-80%),TAS,,,,"[PMID:15180870, PMID:21859730, PMID:28447420, PMID:29559519, PMID:31364155]",y,y +GARD:0004183,Orphanet,3203,ORPHA:3203,11,HP:0005502,Increased red cell osmotic fragility,Very frequent (99-80%),TAS,,,,"[PMID:15180870, PMID:21859730, PMID:28447420, PMID:29559519, PMID:31364155]",y,y +GARD:0004183,Orphanet,3203,ORPHA:3203,11,HP:0011273,Anisocytosis,Occasional (29-5%),TAS,,,,"[PMID:15180870, PMID:21859730, PMID:28447420, PMID:29559519, PMID:31364155]",y,y +GARD:0004183,Orphanet,3203,ORPHA:3203,11,HP:0025065,Abnormal mean corpuscular volume,Very frequent (99-80%),TAS,,,,"[PMID:15180870, PMID:21859730, PMID:28447420, PMID:29559519, PMID:31364155]",y,y +GARD:0004183,Orphanet,3203,ORPHA:3203,11,HP:0025435,Increased circulating lactate dehydrogenase concentration,Occasional (29-5%),TAS,,,,"[PMID:15180870, PMID:21859730, PMID:28447420, PMID:29559519, PMID:31364155]",y,y +GARD:0004183,Orphanet,3203,ORPHA:3203,11,HP:0025547,Decreased mean corpuscular hemoglobin concentration,Very frequent (99-80%),TAS,,,,"[PMID:15180870, PMID:21859730, PMID:28447420, PMID:29559519, PMID:31364155]",y,y +GARD:0004189,Orphanet,1952,ORPHA:1952,10,HP:0000601,Hypotelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004189,Orphanet,1952,ORPHA:1952,10,HP:0001643,Patent ductus arteriosus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004189,Orphanet,1952,ORPHA:1952,10,HP:0002648,Abnormality of calvarial morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004189,Orphanet,1952,ORPHA:1952,10,HP:0002970,Genu varum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004189,Orphanet,1952,ORPHA:1952,10,HP:0003417,Coronal cleft vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004189,Orphanet,1952,ORPHA:1952,10,HP:0005716,Lethal skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004189,Orphanet,1952,ORPHA:1952,10,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004189,Orphanet,1952,ORPHA:1952,10,HP:0010655,Epiphyseal stippling,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004189,Orphanet,1952,ORPHA:1952,10,HP:0011849,Abnormal bone ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004189,Orphanet,1952,ORPHA:1952,10,HP:0100670,Coarse metaphyseal trabecularization,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004199,Orphanet,2184,ORPHA:2184,10,HP:0000079,Abnormality of the urinary system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004199,Orphanet,2184,ORPHA:2184,10,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004199,Orphanet,2184,ORPHA:2184,10,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004199,Orphanet,2184,ORPHA:2184,10,HP:0000765,Abnormal thorax morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004199,Orphanet,2184,ORPHA:2184,10,HP:0001334,Communicating hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004199,Orphanet,2184,ORPHA:2184,10,HP:0001636,Tetralogy of Fallot,Frequent (79-30%),TAS,,,,,y,y +GARD:0004199,Orphanet,2184,ORPHA:2184,10,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004199,Orphanet,2184,ORPHA:2184,10,HP:0003189,Long nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004199,Orphanet,2184,ORPHA:2184,10,HP:0004299,Hernia of the abdominal wall,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004199,Orphanet,2184,ORPHA:2184,10,HP:0010772,Anomalous pulmonary venous return,Frequent (79-30%),TAS,,,,,y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0000819,Diabetes mellitus,Occasional (29-5%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0001433,Hepatosplenomegaly,Occasional (29-5%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0001738,Exocrine pancreatic insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0001824,Weight loss,Very frequent (99-80%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0002039,Anorexia,Very frequent (99-80%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0002254,Intermittent diarrhea,Occasional (29-5%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0002861,Melanoma,Occasional (29-5%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0002896,Neoplasm of the liver,Occasional (29-5%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0002910,Elevated hepatic transaminase,Occasional (29-5%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0003002,Breast carcinoma,Occasional (29-5%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0003003,Colon cancer,Occasional (29-5%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0003418,Back pain,Very frequent (99-80%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0004389,Intestinal pseudo-obstruction,Frequent (79-30%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0004396,Poor appetite,Very frequent (99-80%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0005249,Functional intestinal obstruction,Frequent (79-30%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0006725,Pancreatic adenocarcinoma,Obligate (100%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0012334,Extrahepatic cholestasis,Frequent (79-30%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0012432,Chronic fatigue,Very frequent (99-80%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0025318,Ovarian carcinoma,Occasional (29-5%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004206,Orphanet,1333,ORPHA:1333,24,HP:0100592,Peritoneal abscess,Occasional (29-5%),TAS,,,,"[PMID:19264984, PMID:2296965, PMID:7545954, PMID:7597059]",y,y +GARD:0004210,Orphanet,677,ORPHA:677,9,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,"[PMID:21696948, PMID:22743113]",y,y +GARD:0004210,Orphanet,677,ORPHA:677,9,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:21696948, PMID:22743113]",y,y +GARD:0004210,Orphanet,677,ORPHA:677,9,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:21696948, PMID:22743113]",y,y +GARD:0004210,Orphanet,677,ORPHA:677,9,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:21696948, PMID:22743113]",y,y +GARD:0004210,Orphanet,677,ORPHA:677,9,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:21696948, PMID:22743113]",y,y +GARD:0004210,Orphanet,677,ORPHA:677,9,HP:0002733,Abnormality of the lymph nodes,Occasional (29-5%),TAS,,,,"[PMID:21696948, PMID:22743113]",y,y +GARD:0004210,Orphanet,677,ORPHA:677,9,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,"[PMID:21696948, PMID:22743113]",y,y +GARD:0004210,Orphanet,677,ORPHA:677,9,HP:0005213,Pancreatic calcification,Frequent (79-30%),TAS,,,,"[PMID:21696948, PMID:22743113]",y,y +GARD:0004210,Orphanet,677,ORPHA:677,9,HP:0005984,Elevated maternal serum alpha-fetoprotein,Frequent (79-30%),TAS,,,,"[PMID:21696948, PMID:22743113]",y,y +GARD:0004214,Orphanet,2807,ORPHA:2807,9,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004214,Orphanet,2807,ORPHA:2807,9,HP:0000505,Visual impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004214,Orphanet,2807,ORPHA:2807,9,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0004214,Orphanet,2807,ORPHA:2807,9,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004214,Orphanet,2807,ORPHA:2807,9,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0004214,Orphanet,2807,ORPHA:2807,9,HP:0004374,Hemiplegia/hemiparesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004214,Orphanet,2807,ORPHA:2807,9,HP:0012639,Abnormal nervous system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004214,Orphanet,2807,ORPHA:2807,9,HP:0100543,Cognitive impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004214,Orphanet,2807,ORPHA:2807,9,HP:0200022,Choroid plexus papilloma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0001171,Split hand,Occasional (29-5%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0001436,Abnormality of the foot musculature,Frequent (79-30%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0002064,Spastic gait,Frequent (79-30%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0002174,Postural tremor,Occasional (29-5%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0002936,Distal sensory impairment,Occasional (29-5%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0003693,Distal amyotrophy,Occasional (29-5%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0009027,Foot dorsiflexor weakness,Frequent (79-30%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0009130,Hand muscle atrophy,Frequent (79-30%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0030237,Hand muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0030838,Hip pain,Occasional (29-5%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0030839,Knee pain,Occasional (29-5%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0031374,Ankle weakness,Occasional (29-5%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004219,Orphanet,100998,ORPHA:100998,16,HP:0040131,Abnormal motor nerve conduction velocity,Occasional (29-5%),TAS,,,,"[PMID:13680364, PMID:23553728]",y,y +GARD:0004224,Orphanet,851,ORPHA:851,2,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0004224,Orphanet,851,ORPHA:851,2,HP:0001626,Abnormality of the cardiovascular system,Frequent (79-30%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0000311,Round face,Occasional (29-5%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0000912,Sprengel anomaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0001063,Acrocyanosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0001271,Polyneuropathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0002829,Arthralgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0003401,Paresthesia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0003691,Scapular winging,Frequent (79-30%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0004228,Orphanet,2901,ORPHA:2901,16,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0001647,Bicuspid aortic valve,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0001650,Aortic valve stenosis,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0001653,Mitral regurgitation,Frequent (79-30%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0001680,Coarctation of aorta,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0001681,Angina pectoris,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0001692,Atrial arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0001702,Abnormal tricuspid valve morphology,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0001719,Double outlet right ventricle,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0001962,Palpitations,Frequent (79-30%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0002326,Transient ischemic attack,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0004383,Hypoplastic left heart,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0004749,Atrial flutter,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0006689,Bacterial endocarditis,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0009020,Exercise-induced muscle fatigue,Frequent (79-30%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0010772,Anomalous pulmonary venous return,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0011565,Common atrium,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0011577,Partial atrioventricular canal defect,Obligate (100%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0030148,Heart murmur,Frequent (79-30%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0030853,Heterotaxy,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004229,Orphanet,1330,ORPHA:1330,25,HP:0031298,Coronary sinus enlargement,Occasional (29-5%),TAS,,,,"[PMID:14762371, PMID:29722020]",y,y +GARD:0004235,Orphanet,94083,ORPHA:94083,13,HP:0000053,Macroorchidism,Frequent (79-30%),TAS,,,,"[PMID:14631200, PMID:16647850, PMID:17082467, PMID:21204215, PMID:3177452]",y,y +GARD:0004235,Orphanet,94083,ORPHA:94083,13,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,"[PMID:14631200, PMID:16647850, PMID:17082467, PMID:21204215, PMID:3177452]",y,y +GARD:0004235,Orphanet,94083,ORPHA:94083,13,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:14631200, PMID:16647850, PMID:17082467, PMID:21204215, PMID:3177452]",y,y +GARD:0004235,Orphanet,94083,ORPHA:94083,13,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:14631200, PMID:16647850, PMID:17082467, PMID:21204215, PMID:3177452]",y,y +GARD:0004235,Orphanet,94083,ORPHA:94083,13,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:14631200, PMID:16647850, PMID:17082467, PMID:21204215, PMID:3177452]",y,y +GARD:0004235,Orphanet,94083,ORPHA:94083,13,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,"[PMID:14631200, PMID:16647850, PMID:17082467, PMID:21204215, PMID:3177452]",y,y +GARD:0004235,Orphanet,94083,ORPHA:94083,13,HP:0001260,Dysarthria,Frequent (79-30%),TAS,,,,"[PMID:14631200, PMID:16647850, PMID:17082467, PMID:21204215, PMID:3177452]",y,y +GARD:0004235,Orphanet,94083,ORPHA:94083,13,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:14631200, PMID:16647850, PMID:17082467, PMID:21204215, PMID:3177452]",y,y +GARD:0004235,Orphanet,94083,ORPHA:94083,13,HP:0002061,Lower limb spasticity,Frequent (79-30%),TAS,,,,"[PMID:14631200, PMID:16647850, PMID:17082467, PMID:21204215, PMID:3177452]",y,y +GARD:0004235,Orphanet,94083,ORPHA:94083,13,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:14631200, PMID:16647850, PMID:17082467, PMID:21204215, PMID:3177452]",y,y +GARD:0004235,Orphanet,94083,ORPHA:94083,13,HP:0002353,EEG abnormality,Occasional (29-5%),TAS,,,,"[PMID:14631200, PMID:16647850, PMID:17082467, PMID:21204215, PMID:3177452]",y,y +GARD:0004235,Orphanet,94083,ORPHA:94083,13,HP:0002451,Limb dystonia,Very frequent (99-80%),TAS,,,,"[PMID:14631200, PMID:16647850, PMID:17082467, PMID:21204215, PMID:3177452]",y,y +GARD:0004235,Orphanet,94083,ORPHA:94083,13,HP:0007380,Facial telangiectasia,Occasional (29-5%),TAS,,,,"[PMID:14631200, PMID:16647850, PMID:17082467, PMID:21204215, PMID:3177452]",y,y +GARD:0004236,Orphanet,295,ORPHA:295,9,HP:0000478,Abnormality of the eye,Occasional (29-5%),TAS,,,,,y,y +GARD:0004236,Orphanet,295,ORPHA:295,9,HP:0000504,Abnormality of vision,Occasional (29-5%),TAS,,,,,y,y +GARD:0004236,Orphanet,295,ORPHA:295,9,HP:0001511,Intrauterine growth retardation,Occasional (29-5%),TAS,,,,,y,y +GARD:0004236,Orphanet,295,ORPHA:295,9,HP:0001541,Ascites,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004236,Orphanet,295,ORPHA:295,9,HP:0001639,Hypertrophic cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004236,Orphanet,295,ORPHA:295,9,HP:0001789,Hydrops fetalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004236,Orphanet,295,ORPHA:295,9,HP:0001873,Thrombocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004236,Orphanet,295,ORPHA:295,9,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004236,Orphanet,295,ORPHA:295,9,HP:0010880,Increased nuchal translucency,Occasional (29-5%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000298,Mask-like facies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000499,Abnormal eyelash morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000632,Lacrimation abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0001072,Thickened skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0001304,Torsion dystonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0002162,Low posterior hairline,Occasional (29-5%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0005338,Sparse lateral eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0008572,External ear malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0009804,Tooth agenesis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004238,Orphanet,1252,ORPHA:1252,28,HP:0100335,Non-midline cleft lip,Frequent (79-30%),TAS,,,,,y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0000015,Bladder diverticulum,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0000448,Prominent nose,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0000819,Diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0001007,Hirsutism,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0001176,Large hands,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0001386,Joint swelling,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0001511,Intrauterine growth retardation,Excluded (0%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0001833,Long foot,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0002069,Bilateral tonic-clonic seizure,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0002684,Thickened calvaria,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0003180,Flat acetabular roof,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0003310,Abnormality of the odontoid process,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0004979,Metaphyseal sclerosis,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0006505,Abnormality of limb epiphysis morphology,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0007517,Palmoplantar cutis laxa,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0007574,Generalized bronze hyperpigmentation,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0008788,Delayed pubic bone ossification,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0010819,Atonic seizure,Frequent (79-30%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0012412,Premature adrenarche,Frequent (79-30%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0012767,Abnormal placental size,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0030348,Increased circulating androgen concentration,Frequent (79-30%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0430005,Abnormal ethmoid bone morphology,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:0430028,Hyperplasia of the maxilla,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004259,Orphanet,2976,ORPHA:2976,29,HP:3000077,Abnormal mandible condylar process morphology,Very frequent (99-80%),TAS,,,,"[PMID:14484402, PMID:7277424]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0000501,Glaucoma,Very rare (<4-1%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0000518,Cataract,Very rare (<4-1%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0000554,Uveitis,Frequent (79-30%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0000585,Band keratopathy,Occasional (29-5%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0001370,Rheumatoid arthritis,Occasional (29-5%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0001382,Joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0003028,Abnormality of the ankles,Frequent (79-30%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0003493,Antinuclear antibody positivity,Very frequent (99-80%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0003565,Elevated erythrocyte sedimentation rate,Frequent (79-30%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0005086,Knee osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0007663,Reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0007833,Anterior chamber synechiae,Occasional (29-5%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0008850,Severe postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0030356,Increased serum interferon-gamma level,Frequent (79-30%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0030782,Abnormal circulating interleukin concentration,Frequent (79-30%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004261,Orphanet,85410,ORPHA:85410,19,HP:0040313,Oligoarthritis,Very frequent (99-80%),TAS,,,,"[PMID:21320644, PMID:21621220, PMID:26968301, PMID:28052441, PMID:28428675]",y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0000177,Abnormality of upper lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0000194,Open mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0000238,Hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0000496,Abnormality of eye movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0000572,Visual loss,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0001272,Cerebellar atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0001371,Flexion contracture,Frequent (79-30%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0002132,Porencephalic cyst,Frequent (79-30%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0002329,Drowsiness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0002521,Hypsarrhythmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0002804,Arthrogryposis multiplex congenita,Occasional (29-5%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0004422,Biparietal narrowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0006829,Severe muscular hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0007366,Atrophy/Degeneration affecting the brainstem,Frequent (79-30%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0008572,External ear malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0012398,Peripheral edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0012469,Infantile spasms,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004264,Orphanet,2836,ORPHA:2836,42,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0000079,Abnormality of the urinary system,Frequent (79-30%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0000648,Optic atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0000649,Abnormality of visual evoked potentials,Frequent (79-30%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0001266,Choreoathetosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0001531,Failure to thrive in infancy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0001622,Premature birth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0002607,Bowel incontinence,Frequent (79-30%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0009830,Peripheral neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004265,Orphanet,702,ORPHA:702,32,HP:0100026,Arteriovenous malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004269,Orphanet,2840,ORPHA:2840,10,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,,y,y +GARD:0004269,Orphanet,2840,ORPHA:2840,10,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004269,Orphanet,2840,ORPHA:2840,10,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004269,Orphanet,2840,ORPHA:2840,10,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004269,Orphanet,2840,ORPHA:2840,10,HP:0003100,Slender long bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004269,Orphanet,2840,ORPHA:2840,10,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004269,Orphanet,2840,ORPHA:2840,10,HP:0003298,Spina bifida occulta,Frequent (79-30%),TAS,,,,,y,y +GARD:0004269,Orphanet,2840,ORPHA:2840,10,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004269,Orphanet,2840,ORPHA:2840,10,HP:0008839,Hypoplastic pelvis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004269,Orphanet,2840,ORPHA:2840,10,HP:0010767,Sacrococcygeal pilonidal abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0000112,Nephropathy,Occasional (29-5%),TAS,,,,[PMID:20537182],y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0000359,Abnormality of the inner ear,Very frequent (99-80%),TAS,,,,[PMID:20537182],y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,[PMID:20537182],y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0000821,Hypothyroidism,Frequent (79-30%),TAS,,,,[PMID:20537182],y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0000843,Hyperparathyroidism,Occasional (29-5%),TAS,,,,[PMID:20537182],y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0000853,Goiter,Frequent (79-30%),TAS,,,,[PMID:20537182],y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,[PMID:20537182],y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,[PMID:20537182],y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,[PMID:20537182],y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0002167,Neurological speech impairment,Occasional (29-5%),TAS,,,,[PMID:20537182],y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,[PMID:20537182],y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0002777,Tracheal stenosis,Occasional (29-5%),TAS,,,,[PMID:20537182],y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0002890,Thyroid carcinoma,Occasional (29-5%),TAS,,,,[PMID:20537182],y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0008586,Hypoplasia of the cochlea,Very frequent (99-80%),TAS,,,,[PMID:20537182],y,y +GARD:0004271,Orphanet,705,ORPHA:705,15,HP:0011387,Enlarged vestibular aqueduct,Very frequent (99-80%),TAS,,,,[PMID:20537182],y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0000014,Abnormality of the bladder,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0000052,"Urethral atresia, male",Occasional (29-5%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0000072,Hydroureter,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0000126,Hydronephrosis,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0000800,Cystic renal dysplasia,Occasional (29-5%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0001562,Oligohydramnios,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0001776,Bilateral talipes equinovarus,Occasional (29-5%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0002023,Anal atresia,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0002089,Pulmonary hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0002575,Tracheoesophageal fistula,Occasional (29-5%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0005944,Bilateral lung agenesis,Occasional (29-5%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0006827,Atrophy of the spinal cord,Occasional (29-5%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0009800,Maternal diabetes,Occasional (29-5%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0010480,Urethral fistula,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0010945,Fetal pyelectasis,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0010958,Bilateral renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0012583,Unilateral renal hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0012584,Bilateral renal hypoplasia,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0012620,Cloacal abnormality,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0012732,Anorectal anomaly,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0030261,Absent penis,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004272,Orphanet,49,ORPHA:49,29,HP:0100590,Rectal fistula,Very frequent (99-80%),TAS,,,,"[PMID:10069704, PMID:10668164, PMID:16142564, PMID:21204662, PMID:25786436, PMID:26194292, PMID:26673776, PMID:9120985]",y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0000049,Shawl scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0000069,Abnormality of the ureter,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0000078,Abnormality of the genital system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0000104,Renal agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0000110,Renal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0000269,Prominent occiput,Frequent (79-30%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0000795,Abnormality of the urethra,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0000811,Abnormal external genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0001638,Cardiomyopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0006443,Patellar aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0007598,Bilateral single transverse palmar creases,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0010751,Dimple chin,Frequent (79-30%),TAS,,,,,y,y +GARD:0004273,Orphanet,2842,ORPHA:2842,20,HP:0100600,Penoscrotal transposition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004299,Orphanet,2776,ORPHA:2776,9,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004299,Orphanet,2776,ORPHA:2776,9,HP:0000327,Hypoplasia of the maxilla,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004299,Orphanet,2776,ORPHA:2776,9,HP:0000455,Broad nasal tip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004299,Orphanet,2776,ORPHA:2776,9,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004299,Orphanet,2776,ORPHA:2776,9,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,,y,y +GARD:0004299,Orphanet,2776,ORPHA:2776,9,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004299,Orphanet,2776,ORPHA:2776,9,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004299,Orphanet,2776,ORPHA:2776,9,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004299,Orphanet,2776,ORPHA:2776,9,HP:0011800,Midface retrusion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000190,Abnormal oral frenulum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000325,Triangular face,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000414,Bulbous nose,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000444,Convex nasal ridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000534,Abnormal eyebrow morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0001155,Abnormality of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0001440,Metatarsal synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0001760,Abnormal foot morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0002815,Abnormality of the knee,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0002823,Abnormality of femur morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0002992,Abnormality of tibia morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0003019,Abnormality of the wrist,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0003028,Abnormality of the ankles,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0003063,Abnormality of the humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0004209,Clinodactyly of the 5th finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0009465,Ulnar deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0010293,Aplasia/Hypoplasia of the uvula,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004302,Orphanet,2496,ORPHA:2496,41,HP:0100240,Synostosis of joints,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0000324,Facial asymmetry,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0001273,Abnormal corpus callosum morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0001321,Cerebellar hypoplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0001761,Pes cavus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0001956,Truncal obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0002119,Ventriculomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0002334,Abnormal cerebellar vermis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0002558,Supernumerary nipple,Frequent (79-30%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0003468,Abnormal vertebral morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0005105,Abnormal nasal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0010109,Short hallux,Frequent (79-30%),TAS,,,,,y,y +GARD:0004303,Orphanet,3224,ORPHA:3224,28,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004304,Orphanet,2921,ORPHA:2921,10,HP:0000480,Retinal coloboma,Frequent (79-30%),TAS,,,,"[PMID:30422472, PMID:3441111]",y,y +GARD:0004304,Orphanet,2921,ORPHA:2921,10,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,"[PMID:30422472, PMID:3441111]",y,y +GARD:0004304,Orphanet,2921,ORPHA:2921,10,HP:0000567,Chorioretinal coloboma,Frequent (79-30%),TAS,,,,"[PMID:30422472, PMID:3441111]",y,y +GARD:0004304,Orphanet,2921,ORPHA:2921,10,HP:0000612,Iris coloboma,Frequent (79-30%),TAS,,,,"[PMID:30422472, PMID:3441111]",y,y +GARD:0004304,Orphanet,2921,ORPHA:2921,10,HP:0001141,Severely reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:30422472, PMID:3441111]",y,y +GARD:0004304,Orphanet,2921,ORPHA:2921,10,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:30422472, PMID:3441111]",y,y +GARD:0004304,Orphanet,2921,ORPHA:2921,10,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:30422472, PMID:3441111]",y,y +GARD:0004304,Orphanet,2921,ORPHA:2921,10,HP:0012109,Angle closure glaucoma,Occasional (29-5%),TAS,,,,"[PMID:30422472, PMID:3441111]",y,y +GARD:0004304,Orphanet,2921,ORPHA:2921,10,HP:0030515,Moderately reduced visual acuity,Occasional (29-5%),TAS,,,,"[PMID:30422472, PMID:3441111]",y,y +GARD:0004304,Orphanet,2921,ORPHA:2921,10,HP:0100258,Preaxial polydactyly,Frequent (79-30%),TAS,,,,"[PMID:30422472, PMID:3441111]",y,y +GARD:0004305,Orphanet,2871,ORPHA:2871,9,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,[PMID:144791],y,y +GARD:0004305,Orphanet,2871,ORPHA:2871,9,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,[PMID:144791],y,y +GARD:0004305,Orphanet,2871,ORPHA:2871,9,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,[PMID:144791],y,y +GARD:0004305,Orphanet,2871,ORPHA:2871,9,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:144791],y,y +GARD:0004305,Orphanet,2871,ORPHA:2871,9,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,[PMID:144791],y,y +GARD:0004305,Orphanet,2871,ORPHA:2871,9,HP:0001620,High pitched voice,Frequent (79-30%),TAS,,,,[PMID:144791],y,y +GARD:0004305,Orphanet,2871,ORPHA:2871,9,HP:0001650,Aortic valve stenosis,Excluded (0%),TAS,,,,[PMID:144791],y,y +GARD:0004305,Orphanet,2871,ORPHA:2871,9,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,[PMID:144791],y,y +GARD:0004305,Orphanet,2871,ORPHA:2871,9,HP:0006297,Enamel hypoplasia,Frequent (79-30%),TAS,,,,[PMID:144791],y,y +GARD:0004312,Orphanet,2875,ORPHA:2875,14,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,,y,y +GARD:0004312,Orphanet,2875,ORPHA:2875,14,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0004312,Orphanet,2875,ORPHA:2875,14,HP:0000592,Blue sclerae,Occasional (29-5%),TAS,,,,,y,y +GARD:0004312,Orphanet,2875,ORPHA:2875,14,HP:0001052,Nevus flammeus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004312,Orphanet,2875,ORPHA:2875,14,HP:0001053,Hypopigmented skin patches,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004312,Orphanet,2875,ORPHA:2875,14,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0004312,Orphanet,2875,ORPHA:2875,14,HP:0002120,Cerebral cortical atrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004312,Orphanet,2875,ORPHA:2875,14,HP:0002353,EEG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0004312,Orphanet,2875,ORPHA:2875,14,HP:0002514,Cerebral calcification,Frequent (79-30%),TAS,,,,,y,y +GARD:0004312,Orphanet,2875,ORPHA:2875,14,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004312,Orphanet,2875,ORPHA:2875,14,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004312,Orphanet,2875,ORPHA:2875,14,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004312,Orphanet,2875,ORPHA:2875,14,HP:0100026,Arteriovenous malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004312,Orphanet,2875,ORPHA:2875,14,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0000272,Malar flattening,Occasional (29-5%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0001633,Abnormal mitral valve morphology,Occasional (29-5%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0006265,Aplasia/Hypoplasia of fingers,Occasional (29-5%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0008386,Aplasia/Hypoplasia of the nails,Frequent (79-30%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0012808,Abnormal nasal base,Frequent (79-30%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004315,Orphanet,1919,ORPHA:1919,16,HP:0100333,Unilateral cleft lip,Frequent (79-30%),TAS,,,,"[PMID:11297704, PMID:2107397, PMID:4886955, PMID:7474220]",y,y +GARD:0004319,Orphanet,226,ORPHA:226,4,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004319,Orphanet,226,ORPHA:226,4,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004319,Orphanet,226,ORPHA:226,4,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004319,Orphanet,226,ORPHA:226,4,HP:0002015,Dysphagia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0000402,Stenosis of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0002002,Deep philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0003019,Abnormality of the wrist,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0003022,Hypoplasia of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0003031,Ulnar bowing,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0004059,Radial club hand,Frequent (79-30%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0005105,Abnormal nasal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0005288,Abnormality of the nares,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0005792,Short humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0006420,Asymmetric radial dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0006482,Abnormality of dental morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0009601,Aplasia/Hypoplasia of the thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0009813,Upper limb phocomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0009896,Abnormal antitragus morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0009906,Aplasia/Hypoplasia of the earlobes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0010038,Short 2nd metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0011675,Arrhythmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004323,Orphanet,2878,ORPHA:2878,21,HP:0100257,Ectrodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0000218,High palate,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0000793,Membranoproliferative glomerulonephritis,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0000964,Eczema,Very frequent (99-80%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001047,Atopic dermatitis,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001156,Brachydactyly,Very rare (<4-1%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001581,Recurrent skin infections,Very frequent (99-80%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001875,Neutropenia,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001878,Hemolytic anemia,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001880,Eosinophilia,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001888,Lymphopenia,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001904,Neutropenia in presence of anti-neutropil antibodies,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0002020,Gastroesophageal reflux,Very rare (<4-1%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0002099,Asthma,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0002110,Bronchiectasis,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0002205,Recurrent respiratory infections,Very frequent (99-80%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0002342,"Intellectual disability, moderate",Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0002665,Lymphoma,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0002718,Recurrent bacterial infections,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0002754,Osteomyelitis,Very rare (<4-1%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0002841,Recurrent fungal infections,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0002923,Rheumatoid factor positive,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0002960,Autoimmunity,Very frequent (99-80%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0003193,Allergic rhinitis,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0003212,Increased circulating IgE level,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0003237,Increased circulating IgG level,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0003261,Increased circulating IgA level,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0004322,Short stature,Very rare (<4-1%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0004429,Recurrent viral infections,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0004430,Severe combined immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0004789,Lactose intolerance,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0005403,T lymphocytopenia,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0005407,Decreased proportion of CD4-positive helper T cells,Very frequent (99-80%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0006532,Recurrent pneumonia,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0007083,Hyperactive patellar reflex,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0008587,Mild neurosensory hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0011109,Chronic sinusitis,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0011343,Moderate global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0031292,Cutaneous abscess,Very frequent (99-80%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0031393,Abnormal proportion of CD8-positive T cells,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0031394,Abnormal CD4:CD8 ratio,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0031402,Reduced antigen-specific T cell proliferation,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0040148,Cortical myoclonus,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0040218,Reduced natural killer cell count,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0045025,Narrow palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0045080,Decreased proportion of CD3-positive T cells,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0100633,Esophagitis,Very rare (<4-1%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0100806,Sepsis,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0200029,Vasculitis in the skin,Frequent (79-30%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0200042,Skin ulcer,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004331,Orphanet,443811,ORPHA:443811,63,HP:0200101,Decreased/absent ankle reflexes,Occasional (29-5%),TAS,,,,"[PMID:14981714, PMID:24589341, PMID:24698316, PMID:24931394, PMID:31095764]",y,y +GARD:0004337,Orphanet,3222,ORPHA:3222,14,HP:0000083,Renal insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0004337,Orphanet,3222,ORPHA:3222,14,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004337,Orphanet,3222,ORPHA:3222,14,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004337,Orphanet,3222,ORPHA:3222,14,HP:0000496,Abnormality of eye movement,Occasional (29-5%),TAS,,,,,y,y +GARD:0004337,Orphanet,3222,ORPHA:3222,14,HP:0000822,Hypertension,Occasional (29-5%),TAS,,,,,y,y +GARD:0004337,Orphanet,3222,ORPHA:3222,14,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0004337,Orphanet,3222,ORPHA:3222,14,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004337,Orphanet,3222,ORPHA:3222,14,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004337,Orphanet,3222,ORPHA:3222,14,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004337,Orphanet,3222,ORPHA:3222,14,HP:0001679,Abnormal aortic morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004337,Orphanet,3222,ORPHA:3222,14,HP:0002149,Hyperuricemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004337,Orphanet,3222,ORPHA:3222,14,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004337,Orphanet,3222,ORPHA:3222,14,HP:0003011,Abnormality of the musculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0004337,Orphanet,3222,ORPHA:3222,14,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0000664,Synophrys,Occasional (29-5%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0001053,Hypopigmented skin patches,Frequent (79-30%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0001100,Heterochromia iridis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0002211,White forelock,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0002226,White eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0002227,White eyelashes,Frequent (79-30%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0002251,Aganglionic megacolon,Occasional (29-5%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0002648,Abnormality of calvarial morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0007544,Piebaldism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0004344,Orphanet,2884,ORPHA:2884,19,HP:0012733,Macule,Frequent (79-30%),TAS,,,,,y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000027,Azoospermia,Very rare (<4-1%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000473,Torticollis,Very rare (<4-1%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000514,Slow saccadic eye movements,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000520,Proptosis,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000546,Retinal degeneration,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000580,Pigmentary retinopathy,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000597,Ophthalmoparesis,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000608,Macular degeneration,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000639,Nystagmus,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000726,Dementia,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000763,Sensory neuropathy,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001266,Choreoathetosis,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001271,Polyneuropathy,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001300,Parkinsonism,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001308,Tongue fasciculations,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001336,Myoclonus,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001337,Tremor,Very frequent (99-80%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001618,Dysphonia,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002063,Rigidity,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002071,Abnormality of extrapyramidal motor function,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002072,Chorea,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002073,Progressive cerebellar ataxia,Very frequent (99-80%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002174,Postural tremor,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002304,Akinesia,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002310,Orofacial dyskinesia,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002322,Resting tremor,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002342,"Intellectual disability, moderate",Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002345,Action tremor,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002378,Hand tremor,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002385,Paraparesis,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002423,Long-tract signs,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002461,Dense calcifications in the cerebellar dentate nucleus,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002493,Upper motor neuron dysfunction,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0002495,Impaired vibratory sensation,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0003390,Sensory axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0003474,Somatic sensory dysfunction,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0003477,Peripheral axonal neuropathy,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0004305,Involuntary movements,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0006801,Hyperactive deep tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0007024,Pseudobulbar paralysis,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0007067,Distal peripheral sensory neuropathy,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0007141,Sensorimotor neuropathy,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0007256,Abnormal pyramidal sign,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0007305,CNS demyelination,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0007338,Hypermetric saccades,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0007817,Horizontal supranuclear gaze palsy,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0009830,Peripheral neuropathy,Frequent (79-30%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0010526,Dysgraphia,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0010530,Palatal myoclonus,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0010783,Erythema,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0010831,Impaired proprioception,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0011168,Focal seizure with eyelid myoclonia,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0012049,Laryngeal dystonia,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0012473,Tongue atrophy,Occasional (29-5%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004346,Orphanet,99,ORPHA:99,72,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:27220866, PMID:29325610]",y,y +GARD:0004347,Orphanet,718,ORPHA:718,6,HP:0000162,Glossoptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004347,Orphanet,718,ORPHA:718,6,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004347,Orphanet,718,ORPHA:718,6,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004347,Orphanet,718,ORPHA:718,6,HP:0000600,Abnormality of the pharynx,Frequent (79-30%),TAS,,,,,y,y +GARD:0004347,Orphanet,718,ORPHA:718,6,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,,y,y +GARD:0004347,Orphanet,718,ORPHA:718,6,HP:0002781,Upper airway obstruction,Frequent (79-30%),TAS,,,,,y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0000533,Chorioretinal atrophy,Frequent (79-30%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0000552,Tritanomaly,Occasional (29-5%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0000572,Visual loss,Frequent (79-30%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0000608,Macular degeneration,Frequent (79-30%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0000642,Red-green dyschromatopsia,Occasional (29-5%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0000662,Nyctalopia,Frequent (79-30%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0001089,Iris atrophy,Occasional (29-5%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0001099,Fundus atrophy,Occasional (29-5%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0001141,Severely reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0004328,Abnormal anterior eye segment morphology,Occasional (29-5%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0007401,Macular atrophy,Occasional (29-5%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0007791,Patchy atrophy of the retinal pigment epithelium,Frequent (79-30%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0007906,Ocular hypertension,Very rare (<4-1%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0011506,Choroidal neovascularization,Frequent (79-30%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0011510,Drusen,Frequent (79-30%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0012628,Abnormal suspensory ligament of lens morphology,Occasional (29-5%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0012805,Iris transillumination defect,Occasional (29-5%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0030534,Abnormal best corrected visual acuity test,Very frequent (99-80%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0031530,Multifocal subretinal deposits,Frequent (79-30%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0100014,Epiretinal membrane,Very rare (<4-1%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004357,Orphanet,67042,ORPHA:67042,22,HP:0500087,Peripapillary atrophy,Occasional (29-5%),TAS,,,,"[PMID:30578496, PMID:31385385, PMID:33949280]",y,y +GARD:0004358,Orphanet,169095,ORPHA:169095,5,HP:0001803,Nail pits,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004358,Orphanet,169095,ORPHA:169095,5,HP:0001807,Ridged nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004358,Orphanet,169095,ORPHA:169095,5,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004358,Orphanet,169095,ORPHA:169095,5,HP:0005403,T lymphocytopenia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004358,Orphanet,169095,ORPHA:169095,5,HP:0005597,Congenital alopecia totalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004359,Orphanet,169,ORPHA:169,2,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004359,Orphanet,169,ORPHA:169,2,HP:0010720,Abnormal hair pattern,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004361,Orphanet,2889,ORPHA:2889,9,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0004361,Orphanet,2889,ORPHA:2889,9,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004361,Orphanet,2889,ORPHA:2889,9,HP:0000534,Abnormal eyebrow morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004361,Orphanet,2889,ORPHA:2889,9,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004361,Orphanet,2889,ORPHA:2889,9,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004361,Orphanet,2889,ORPHA:2889,9,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,,y,y +GARD:0004361,Orphanet,2889,ORPHA:2889,9,HP:0002299,Brittle hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0004361,Orphanet,2889,ORPHA:2889,9,HP:0003777,Pili torti,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004361,Orphanet,2889,ORPHA:2889,9,HP:0010719,Abnormality of hair texture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004362,Orphanet,2891,ORPHA:2891,10,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004362,Orphanet,2891,ORPHA:2891,10,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004362,Orphanet,2891,ORPHA:2891,10,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004362,Orphanet,2891,ORPHA:2891,10,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0004362,Orphanet,2891,ORPHA:2891,10,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004362,Orphanet,2891,ORPHA:2891,10,HP:0003777,Pili torti,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004362,Orphanet,2891,ORPHA:2891,10,HP:0005692,Joint hyperflexibility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004362,Orphanet,2891,ORPHA:2891,10,HP:0010719,Abnormality of hair texture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004362,Orphanet,2891,ORPHA:2891,10,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004362,Orphanet,2891,ORPHA:2891,10,HP:0200102,Sparse or absent eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0000377,Abnormal pinna morphology,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0000561,Absent eyelashes,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0000964,Eczema,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0000968,Ectodermal dysplasia,Obligate (100%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0001596,Alopecia,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0002223,Absent eyebrow,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0002231,Sparse body hair,Occasional (29-5%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0002289,Alopecia universalis,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0002299,Brittle hair,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0002552,Trichodysplasia,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0007439,Generalized keratosis follicularis,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0008394,Congenital onychodystrophy,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0008404,Nail dystrophy,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0010562,Keloids,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0012725,Cutaneous syndactyly,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0030953,Conjunctival hyperemia,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004364,Orphanet,2890,ORPHA:2890,20,HP:0410030,Cleft lip,Frequent (79-30%),TAS,,,,"[PMID:1479096, PMID:1879585]",y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0000485,Megalocornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0000618,Blindness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0002974,Radioulnar synostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0003027,Mesomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0003042,Elbow dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0004348,Abnormality of bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0005446,Obtuse angle of mandible,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0006055,Ulnar deviated club hands,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0006439,Radioulnar dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0006441,Lateral humeral condyle aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0007957,Corneal opacity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0009773,Symphalangism affecting the phalanges of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0012478,Temporomandibular joint ankylosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004365,Orphanet,2741,ORPHA:2741,19,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0000008,Abnormal morphology of female internal genitalia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0000982,Palmoplantar keratoderma,Frequent (79-30%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0002213,Fine hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0002299,Brittle hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0003272,Abnormal hip bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0005338,Sparse lateral eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0006482,Abnormality of dental morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0007565,Multiple cafe-au-lait spots,Occasional (29-5%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0008069,Neoplasm of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0008499,High hypermetropia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0009720,Adenoma sebaceum,Occasional (29-5%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0011069,Supernumerary tooth,Frequent (79-30%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004369,Orphanet,3353,ORPHA:3353,19,HP:0200102,Sparse or absent eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000054,Micropenis,Occasional (29-5%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000154,Wide mouth,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000293,Full cheeks,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000341,Narrow forehead,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000391,Thickened helices,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000426,Prominent nasal bridge,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000451,Triangular nasal tip,Frequent (79-30%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000463,Anteverted nares,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000483,Astigmatism,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000582,Upslanted palpebral fissure,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000692,Tooth malposition,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000718,Aggressive behavior,Occasional (29-5%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0000954,Single transverse palmar crease,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0001063,Acrocyanosis,Frequent (79-30%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0001182,Tapered finger,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0001328,Specific learning disability,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0001344,Absent speech,Frequent (79-30%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0001786,Narrow foot,Frequent (79-30%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002019,Constipation,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002036,Hiatus hernia,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002251,Aganglionic megacolon,Very rare (<4-1%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002300,Mutism,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002342,"Intellectual disability, moderate",Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002357,Dysphasia,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002381,Aphasia,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002472,Small cerebral cortex,Frequent (79-30%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002558,Supernumerary nipple,Occasional (29-5%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002793,Abnormal pattern of respiration,Frequent (79-30%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0002883,Hyperventilation,Frequent (79-30%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0006352,Failure of eruption of permanent teeth,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0008081,Pes valgus,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0008897,Postnatal growth retardation,Occasional (29-5%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0010529,Echolalia,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0010535,Sleep apnea,Frequent (79-30%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0010743,Short metatarsal,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0011039,Abnormal helix morphology,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0011300,Broad fingertip,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0011833,Overhanging nasal tip,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0012189,Hodgkin lymphoma,Very rare (<4-1%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0012471,Thick vermilion border,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0040019,Finger clinodactyly,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0040082,Happy demeanor,Occasional (29-5%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0100633,Esophagitis,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0100716,Self-injurious behavior,Occasional (29-5%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004372,Orphanet,2896,ORPHA:2896,70,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,"[PMID:16531728, PMID:18222743, PMID:18728071, PMID:18781613, PMID:21671391, PMID:22045651, PMID:728011]",y,y +GARD:0004375,Orphanet,1078,ORPHA:1078,6,HP:0001172,Abnormal thumb morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004375,Orphanet,1078,ORPHA:1078,6,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004375,Orphanet,1078,ORPHA:1078,6,HP:0001387,Joint stiffness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004375,Orphanet,1078,ORPHA:1078,6,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0004375,Orphanet,1078,ORPHA:1078,6,HP:0005916,Abnormal metacarpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004375,Orphanet,1078,ORPHA:1078,6,HP:0009370,Type A brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0000137,Abnormality of the ovary,Occasional (29-5%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0000212,Gingival overgrowth,Frequent (79-30%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0000230,Gingivitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0000370,Abnormality of the middle ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0000704,Periodontitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0000951,Abnormality of the skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0002086,Abnormality of the respiratory system,Occasional (29-5%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0002588,Duodenal ulcer,Occasional (29-5%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0011027,Abnormal fallopian tube morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0030160,Cervicitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004380,Orphanet,722,ORPHA:722,16,HP:0040228,Decreased level of plasminogen,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0000132,Menorrhagia,Frequent (79-30%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0001058,Poor wound healing,Very rare (<4-1%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0001685,Myocardial fibrosis,Very rare (<4-1%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0001933,Subcutaneous hemorrhage,Frequent (79-30%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0001934,Persistent bleeding after trauma,Very frequent (99-80%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0002170,Intracranial hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0004846,Prolonged bleeding after surgery,Very frequent (99-80%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0005261,Joint hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0005268,Miscarriage,Frequent (79-30%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0006298,Prolonged bleeding after dental extraction,Occasional (29-5%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0007420,Spontaneous hematomas,Excluded (0%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0011854,Hemoperitoneum,Very rare (<4-1%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0011891,Post-partum hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0012233,Intramuscular hematoma,Very rare (<4-1%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0030657,Umbilical cord hematoma,Occasional (29-5%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0040184,Oral bleeding,Occasional (29-5%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0040228,Decreased level of plasminogen,Very frequent (99-80%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0040230,Decreased level of tissue plasminogen activator,Very frequent (99-80%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0040245,Reduced alpha-2-antiplasmin activity,Very frequent (99-80%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0040248,Reduced plasminogen activator inhibitor 1 activity,Very frequent (99-80%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0040249,Reduced plasminogen activator inhibitor 1 antigen,Very frequent (99-80%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004381,Orphanet,465,ORPHA:465,25,HP:0100310,Epidural hemorrhage,Very rare (<4-1%),TAS,,,,"[PMID:28771291, PMID:31427261, PMID:31469483]",y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0000272,Malar flattening,Frequent (79-30%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0000882,Hypoplastic scapulae,Frequent (79-30%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0000926,Platyspondyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0001191,Abnormal carpal morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0001789,Hydrops fetalis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0002652,Skeletal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0002970,Genu varum,Frequent (79-30%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0003021,Metaphyseal cupping,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0003090,Hypoplasia of the capital femoral epiphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0006487,Bowing of the long bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0008839,Hypoplastic pelvis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004382,Orphanet,85166,ORPHA:85166,25,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0002202,Pleural effusion,Frequent (79-30%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0002721,Immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0004887,Respiratory failure requiring assisted ventilation,Frequent (79-30%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0005948,Multiple pulmonary cysts,Occasional (29-5%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0006515,Interstitial pneumonitis,Frequent (79-30%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0009098,Chronic oral candidiasis,Occasional (29-5%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0010702,Increased circulating antibody level,Frequent (79-30%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0011949,Acute infectious pneumonia,Very frequent (99-80%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0011991,Abnormal neutrophil count,Frequent (79-30%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0012418,Hypoxemia,Very frequent (99-80%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0020102,Pneumocystis jirovecii pneumonia,Very frequent (99-80%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0025395,Combined cystic and ground-glass pattern on pulmonary HRCT,Frequent (79-30%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0025435,Increased circulating lactate dehydrogenase concentration,Occasional (29-5%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0031246,Nonproductive cough,Frequent (79-30%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0031863,Bloodstream infectious agent,Occasional (29-5%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004386,Orphanet,723,ORPHA:723,23,HP:0032177,Parenchymal consolidation,Occasional (29-5%),TAS,,,,"[PMID:16255399, PMID:23209406, PMID:26281787, PMID:29635251]",y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0000230,Gingivitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0000262,Turricephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0000509,Conjunctivitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0000656,Ectropion,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0000670,Carious teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0000682,Abnormal dental enamel morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0000704,Periodontitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0000772,Abnormal rib morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0000929,Abnormal skull morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0000962,Hyperkeratosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0000982,Palmoplantar keratoderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0000987,Atypical scarring of skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0001000,Abnormality of skin pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0001029,Poikiloderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0001056,Milia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0001602,Laryngeal stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0001741,Phimosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0001903,Anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0002037,Inflammation of the large intestine,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0002043,Esophageal stricture,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0002583,Colitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0002860,Squamous cell carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0004378,Abnormality of the anus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0006323,Premature loss of primary teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0008388,Abnormal toenail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0010044,Short 4th metacarpal,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0010047,Short 5th metacarpal,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0012227,Urethral stricture,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0100517,Neoplasm of the urethra,Occasional (29-5%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0100633,Esophagitis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004391,Orphanet,2908,ORPHA:2908,41,HP:0100825,Cheilitis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0000282,Facial edema,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0000653,Sparse eyelashes,Frequent (79-30%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0000685,Hypoplasia of teeth,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0000789,Infertility,Frequent (79-30%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0000924,Abnormality of the skeletal system,Frequent (79-30%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0000988,Skin rash,Very frequent (99-80%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0001010,Hypopigmentation of the skin,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0001029,Poikiloderma,Very frequent (99-80%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0001118,Juvenile cataract,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0001592,Selective tooth agenesis,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0001792,Small nail,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0001871,Abnormality of blood and blood-forming tissues,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0001875,Neutropenia,Very rare (<4-1%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0001903,Anemia,Very rare (<4-1%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0001909,Leukemia,Very rare (<4-1%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0001915,Aplastic anemia,Very rare (<4-1%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0002164,Nail dysplasia,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0002671,Basal cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0002860,Squamous cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0002861,Melanoma,Very rare (<4-1%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0002863,Myelodysplasia,Very rare (<4-1%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0003022,Hypoplasia of the ulna,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0003761,Calcinosis,Very rare (<4-1%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0003993,Broad ulna,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0006498,Aplasia/Hypoplasia of the patella,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0006501,Aplasia/Hypoplasia of the radius,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0007418,Alopecia totalis,Very rare (<4-1%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0007556,Plantar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0007588,Reticular hyperpigmentation,Frequent (79-30%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0008065,Aplasia/Hypoplasia of the skin,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0008066,Abnormal blistering of the skin,Frequent (79-30%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0008069,Neoplasm of the skin,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0008070,Sparse hair,Frequent (79-30%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0009778,Short thumb,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0010765,Palmar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0011069,Supernumerary tooth,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0011470,Nasogastric tube feeding in infancy,Very rare (<4-1%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0025300,Malar rash,Very frequent (99-80%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0031367,Metaphyseal striations,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0045075,Sparse eyebrow,Frequent (79-30%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0100585,Telangiectasia of the skin,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0100671,Abnormal trabecular bone morphology,Occasional (29-5%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004392,Orphanet,2909,ORPHA:2909,56,HP:0200044,Porokeratosis,Very rare (<4-1%),TAS,,,,"[PMID:11471165, PMID:20301415]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000104,Renal agenesis,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000180,Lobulated tongue,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000190,Abnormal oral frenulum morphology,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000199,Tongue nodules,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000276,Long face,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000426,Prominent nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000455,Broad nasal tip,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001159,Syndactyly,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001320,Cerebellar vermis hypoplasia,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0001829,Foot polydactyly,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0002269,Abnormality of neuronal migration,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0002419,Molar tooth sign on MRI,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0002444,Hypothalamic hamartoma,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0002876,Episodic tachypnea,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0004422,Biparietal narrowing,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0006145,Central Y-shaped metacarpal,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0007036,Hypoplasia of olfactory tract,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0008689,Bilateral cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0008872,Feeding difficulties in infancy,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0009084,Midline notch of upper alveolar ridge,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0011802,Hamartoma of tongue,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0040019,Finger clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0100258,Preaxial polydactyly,Frequent (79-30%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004412,Orphanet,2754,ORPHA:2754,52,HP:0100260,Mesoaxial polydactyly,Occasional (29-5%),TAS,,,,"[PMID:17377524, PMID:20615230, PMID:2309783, PMID:23523602, PMID:7381865, PMID:8256802]",y,y +GARD:0004413,Orphanet,2917,ORPHA:2917,5,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004413,Orphanet,2917,ORPHA:2917,5,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004413,Orphanet,2917,ORPHA:2917,5,HP:0000545,Myopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004413,Orphanet,2917,ORPHA:2917,5,HP:0001162,Postaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004413,Orphanet,2917,ORPHA:2917,5,HP:0100541,Femoral hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004421,Orphanet,3286,ORPHA:3286,4,HP:0001279,Syncope,Occasional (29-5%),TAS,,,,,y,y +GARD:0004421,Orphanet,3286,ORPHA:3286,4,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0004421,Orphanet,3286,ORPHA:3286,4,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,,y,y +GARD:0004421,Orphanet,3286,ORPHA:3286,4,HP:0004756,Ventricular tachycardia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0000221,Furrowed tongue,Occasional (29-5%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0000762,Decreased nerve conduction velocity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0001315,Reduced tendon reflexes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0001956,Truncal obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0002644,Abnormality of pelvic girdle bone morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0003457,EMG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0008209,Premature ovarian insufficiency,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0009465,Ulnar deviation of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004424,Orphanet,2928,ORPHA:2928,16,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0000221,Furrowed tongue,Occasional (29-5%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0000224,Hypogeusia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0001000,Abnormality of skin pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0001004,Lymphedema,Frequent (79-30%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0001182,Tapered finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0001231,Abnormal fingernail morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0001800,Hypoplastic toenails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0001810,Dystrophic toenail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0002014,Diarrhea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0002024,Malabsorption,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0002027,Abdominal pain,Frequent (79-30%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0002231,Sparse body hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0002232,Patchy alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0002597,Abnormality of the vasculature,Frequent (79-30%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0002672,Gastrointestinal carcinoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0003003,Colon cancer,Occasional (29-5%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0004326,Cachexia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0004390,Hamartomatous polyposis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0007440,Generalized hyperpigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0008391,Dystrophic fingernails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0012126,Stomach cancer,Occasional (29-5%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Frequent (79-30%),TAS,,,,,y,y +GARD:0004427,Orphanet,2930,ORPHA:2930,33,HP:0200008,Intestinal polyposis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004434,Orphanet,93405,ORPHA:93405,9,HP:0001161,Hand polydactyly,Very frequent (99-80%),TAS,,,,[PMID:17476456],y,y +GARD:0004434,Orphanet,93405,ORPHA:93405,9,HP:0001199,Triphalangeal thumb,Occasional (29-5%),TAS,,,,[PMID:17476456],y,y +GARD:0004434,Orphanet,93405,ORPHA:93405,9,HP:0001376,Limitation of joint mobility,Occasional (29-5%),TAS,,,,[PMID:17476456],y,y +GARD:0004434,Orphanet,93405,ORPHA:93405,9,HP:0001501,6 metacarpals,Frequent (79-30%),TAS,,,,[PMID:17476456],y,y +GARD:0004434,Orphanet,93405,ORPHA:93405,9,HP:0001770,Toe syndactyly,Frequent (79-30%),TAS,,,,[PMID:17476456],y,y +GARD:0004434,Orphanet,93405,ORPHA:93405,9,HP:0001829,Foot polydactyly,Frequent (79-30%),TAS,,,,[PMID:17476456],y,y +GARD:0004434,Orphanet,93405,ORPHA:93405,9,HP:0005736,Short tibia,Frequent (79-30%),TAS,,,,[PMID:17476456],y,y +GARD:0004434,Orphanet,93405,ORPHA:93405,9,HP:0010708,1-5 finger syndactyly,Very frequent (99-80%),TAS,,,,[PMID:17476456],y,y +GARD:0004434,Orphanet,93405,ORPHA:93405,9,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,[PMID:17476456],y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0000050,Hypoplastic male external genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0000062,Ambiguous genitalia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0000160,Narrow mouth,Frequent (79-30%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0000161,Median cleft lip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0000175,Cleft palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0000430,Underdeveloped nasal alae,Frequent (79-30%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0000625,Eyelid coloboma,Frequent (79-30%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0001770,Toe syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0001800,Hypoplastic toenails,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0001883,Talipes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0003196,Short nose,Frequent (79-30%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0007418,Alopecia totalis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0007957,Corneal opacity,Frequent (79-30%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0009755,Ankyloblepharon,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0009756,Popliteal pterygium,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0009777,Absent thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0010185,Aplasia/Hypoplasia of the distal phalanges of the toes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0100240,Synostosis of joints,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004436,Orphanet,1234,ORPHA:1234,26,HP:0200102,Sparse or absent eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004438,Orphanet,735,ORPHA:735,5,HP:0000962,Hyperkeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004438,Orphanet,735,ORPHA:735,5,HP:0000989,Pruritus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004438,Orphanet,735,ORPHA:735,5,HP:0000992,Cutaneous photosensitivity,Frequent (79-30%),TAS,,,,,y,y +GARD:0004438,Orphanet,735,ORPHA:735,5,HP:0008065,Aplasia/Hypoplasia of the skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004438,Orphanet,735,ORPHA:735,5,HP:0200044,Porokeratosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0000618,Blindness,Very rare (<4-1%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0000656,Ectropion,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0000939,Osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0000953,Hyperpigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0000969,Edema,Very rare (<4-1%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0000989,Pruritus,Very rare (<4-1%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0001010,Hypopigmentation of the skin,Frequent (79-30%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0001030,Fragile skin,Very frequent (99-80%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0001072,Thickened skin,Frequent (79-30%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0001096,Keratoconjunctivitis,Very rare (<4-1%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0001560,Abnormality of the amniotic fluid,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0001744,Splenomegaly,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0001790,Nonimmune hydrops fetalis,Frequent (79-30%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0001873,Thrombocytopenia,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0001878,Hemolytic anemia,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0001892,Abnormal bleeding,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0001923,Reticulocytosis,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0002219,Facial hypertrichosis,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0002797,Osteolysis,Very rare (<4-1%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0002860,Squamous cell carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0003401,Paresthesia,Very rare (<4-1%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0004447,Poikilocytosis,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0004552,Scarring alopecia of scalp,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0005406,Recurrent bacterial skin infections,Frequent (79-30%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0007537,Severe photosensitivity,Very frequent (99-80%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0008066,Abnormal blistering of the skin,Very frequent (99-80%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0008069,Neoplasm of the skin,Very rare (<4-1%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0008282,Unconjugated hyperbilirubinemia,Frequent (79-30%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0009025,Increased connective tissue,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0010472,Abnormal circulating porphyrin concentration,Very frequent (99-80%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0010473,Porphyrinuria,Very frequent (99-80%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0011273,Anisocytosis,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0011457,Loss of eyelashes,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0012132,Erythroid hyperplasia,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0012187,Increased erythrocyte protoporphyrin concentration,Very frequent (99-80%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0012217,Increased urinary porphobilinogen,Very frequent (99-80%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0012804,Corneal ulceration,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0020181,Reduced haptoglobin level,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0030756,Erythrodontia,Frequent (79-30%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0033009,Increased fecal coproporphyrin 1,Frequent (79-30%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0040320,Red-brown urine,Frequent (79-30%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0040322,Purple urine,Frequent (79-30%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0100512,Low levels of vitamin D,Occasional (29-5%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0100532,Scleritis,Very rare (<4-1%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0100699,Scarring,Frequent (79-30%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0200041,Skin erosion,Frequent (79-30%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0500046,Seborrhoeic blepharitis,Very rare (<4-1%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004446,Orphanet,79277,ORPHA:79277,50,HP:0500115,Increased stool urobilinogen concentration,Very frequent (99-80%),TAS,,,,"[PMID:24027798, PMID:28329491]",y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0001367,Abnormal joint morphology,Occasional (29-5%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0002015,Dysphagia,Occasional (29-5%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0002380,Fasciculations,Occasional (29-5%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0002791,Hypoventilation,Very rare (<4-1%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0003326,Myalgia,Frequent (79-30%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0003394,Muscle spasm,Occasional (29-5%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0011446,Abnormality of higher mental function,Frequent (79-30%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0012531,Pain,Very frequent (99-80%),TAS,,,,[PMID:15599928],y,y +GARD:0004454,Orphanet,2942,ORPHA:2942,17,HP:0100786,Hypersomnia,Frequent (79-30%),TAS,,,,[PMID:15599928],y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0000396,Overfolded helix,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0000772,Abnormal rib morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0001059,Pterygium,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0001199,Triphalangeal thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0001387,Joint stiffness,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0001680,Coarctation of aorta,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0002475,Myelomeningocele,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0003316,Butterfly vertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0004935,Pulmonary artery atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0009465,Ulnar deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0009778,Short thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0009906,Aplasia/Hypoplasia of the earlobes,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0010059,Broad hallux phalanx,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0011304,Broad thumb,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0012304,Hypoplastic aortic arch,Frequent (79-30%),TAS,,,,,y,y +GARD:0004465,Orphanet,2876,ORPHA:2876,26,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0004475,Orphanet,3000,ORPHA:3000,11,HP:0000040,Long penis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004475,Orphanet,3000,ORPHA:3000,11,HP:0000053,Macroorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0004475,Orphanet,3000,ORPHA:3000,11,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004475,Orphanet,3000,ORPHA:3000,11,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0004475,Orphanet,3000,ORPHA:3000,11,HP:0000798,Oligospermia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004475,Orphanet,3000,ORPHA:3000,11,HP:0000826,Precocious puberty,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004475,Orphanet,3000,ORPHA:3000,11,HP:0001061,Acne,Frequent (79-30%),TAS,,,,,y,y +GARD:0004475,Orphanet,3000,ORPHA:3000,11,HP:0001595,Abnormal hair morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004475,Orphanet,3000,ORPHA:3000,11,HP:0003251,Male infertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004475,Orphanet,3000,ORPHA:3000,11,HP:0005616,Accelerated skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004475,Orphanet,3000,ORPHA:3000,11,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0000278,Retrognathia,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0001098,Abnormal fundus morphology,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0001776,Bilateral talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0002673,Coxa valga,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0005815,Supernumerary ribs,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0010499,Patellar subluxation,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0010781,Skin dimple,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0011064,Abnormal number of incisors,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004482,Orphanet,2958,ORPHA:2958,23,HP:0040019,Finger clinodactyly,Frequent (79-30%),TAS,,,,"[PMID:1673297, PMID:3121220]",y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0000952,Jaundice,Frequent (79-30%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0000967,Petechiae,Occasional (29-5%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0001744,Splenomegaly,Very frequent (99-80%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0001875,Neutropenia,Frequent (79-30%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0001876,Pancytopenia,Very frequent (99-80%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0001945,Fever,Occasional (29-5%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0002017,Nausea and vomiting,Occasional (29-5%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0002113,Pulmonary infiltrates,Occasional (29-5%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0002216,Premature graying of hair,Very frequent (99-80%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0002716,Lymphadenopathy,Frequent (79-30%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0003077,Hyperlipidemia,Frequent (79-30%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0005599,Hypopigmentation of hair,Very frequent (99-80%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0007443,Partial albinism,Very frequent (99-80%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0007730,Iris hypopigmentation,Occasional (29-5%),TAS,,,,[PMID:25315806],y,y +GARD:0004483,Orphanet,79477,ORPHA:79477,19,HP:0012156,Hemophagocytosis,Very frequent (99-80%),TAS,,,,[PMID:25315806],y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0000119,Abnormality of the genitourinary system,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0000238,Hydrocephalus,Very rare (<4-1%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0000389,Chronic otitis media,Frequent (79-30%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0000403,Recurrent otitis media,Frequent (79-30%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0000510,Rod-cone dystrophy,Very rare (<4-1%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0000924,Abnormality of the skeletal system,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0001217,Clubbing,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0001669,Transposition of the great arteries,Very rare (<4-1%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0001696,Situs inversus totalis,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0001719,Double outlet right ventricle,Very rare (<4-1%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0001742,Nasal congestion,Frequent (79-30%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0001746,Asplenia,Very rare (<4-1%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0001748,Polysplenia,Very rare (<4-1%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0002011,Morphological central nervous system abnormality,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0002110,Bronchiectasis,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0002119,Ventriculomegaly,Very rare (<4-1%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0002257,Chronic rhinitis,Frequent (79-30%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0002566,Intestinal malrotation,Very rare (<4-1%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0002878,Respiratory failure,Very rare (<4-1%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0003251,Male infertility,Frequent (79-30%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0005301,Persistent left superior vena cava,Very rare (<4-1%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0005425,Recurrent sinopulmonary infections,Frequent (79-30%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0006536,Airway obstruction,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0008222,Female infertility,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0010772,Anomalous pulmonary venous return,Very rare (<4-1%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0011109,Chronic sinusitis,Frequent (79-30%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0011274,Recurrent mycobacterial infections,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0011535,Abnormal atrial arrangement,Very rare (<4-1%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0011539,Atrial situs ambiguous,Very rare (<4-1%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0011617,Pulmonary situs ambiguus,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0011947,Respiratory tract infection,Frequent (79-30%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0012206,Abnormal sperm motility,Frequent (79-30%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0025177,Peribronchovascular interstitial thickening,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0025576,Abnormal inferior vena cava morphology,Very rare (<4-1%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0030828,Wheezing,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0031245,Productive cough,Frequent (79-30%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0031456,Ectopic pregnancy,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0032016,Abnormal sputum,Frequent (79-30%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0032543,Lithoptysis,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0100582,Nasal polyposis,Frequent (79-30%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004484,Orphanet,244,ORPHA:244,47,HP:0100750,Atelectasis,Occasional (29-5%),TAS,,,,"[PMID:20301301, PMID:28250080]",y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0000014,Abnormality of the bladder,Occasional (29-5%),TAS,,,,,y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0000763,Sensory neuropathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0001285,Spastic tetraparesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0001324,Muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0002064,Spastic gait,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0002127,Abnormal upper motor neuron morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0002141,Gait imbalance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0002193,Pseudobulbar behavioral symptoms,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0002371,Loss of speech,Frequent (79-30%),TAS,,,,,y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0002464,Spastic dysarthria,Frequent (79-30%),TAS,,,,,y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004485,Orphanet,247604,ORPHA:247604,15,HP:0007256,Abnormal pyramidal sign,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0000405,Conductive hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0000664,Synophrys,Frequent (79-30%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0001357,Plagiocephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0001798,Anonychia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0002797,Osteolysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0002868,Narrow iliac wing,Frequent (79-30%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0003273,Hip contracture,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0003301,Irregular vertebral endplates,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0005103,Calcification of the auricular cartilage,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0005121,Posterior scalloping of vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0008689,Bilateral cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0004488,Orphanet,3042,ORPHA:3042,33,HP:0012062,Bone cyst,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000047,Hypospadias,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000054,Micropenis,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000193,Bifid uvula,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000320,Bird-like facies,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000408,Progressive sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000529,Progressive visual loss,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000585,Band keratopathy,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000689,Dental malocclusion,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000823,Delayed puberty,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000831,Insulin-resistant diabetes mellitus,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0000938,Osteopenia,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0001397,Hepatic steatosis,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0001592,Selective tooth agenesis,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0001620,High pitched voice,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0001935,Microcytic anemia,Occasional (29-5%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0002136,Broad-based gait,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0002572,Episodic vomiting,Occasional (29-5%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0002721,Immunodeficiency,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0002828,Multiple joint contractures,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0002894,Neoplasm of the pancreas,Occasional (29-5%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0002943,Thoracic scoliosis,Occasional (29-5%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0003401,Paresthesia,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0003808,Abnormal muscle tone,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0004429,Recurrent viral infections,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0005115,Supraventricular arrhythmia,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0005320,Lack of facial subcutaneous fat,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0005328,Progeroid facial appearance,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0005403,T lymphocytopenia,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0007481,Hyperpigmented nevi,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0008209,Premature ovarian insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0008214,Decreased serum estradiol,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0010536,Central sleep apnea,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0010663,Abnormality of thalamus morphology,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0025124,Fragile teeth,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0040160,Generalized osteoporosis,Occasional (29-5%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0040171,Decreased serum testosterone concentration,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004494,Orphanet,2959,ORPHA:2959,56,HP:0100785,Insomnia,Very frequent (99-80%),TAS,,,,"[PMID:16364148, PMID:19213035, PMID:3351893, PMID:4155966, PMID:8456831]",y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0000260,Wide anterior fontanel,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0000973,Cutis laxa,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0001582,Redundant skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0001597,Abnormality of the nail,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0002299,Brittle hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0003758,Reduced subcutaneous adipose tissue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0004331,Decreased skull ossification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0007495,Prematurely aged appearance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0007740,Long eyelashes in irregular rows,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0008070,Sparse hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0009721,Shagreen patch,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004497,Orphanet,2963,ORPHA:2963,28,HP:0100578,Lipoatrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0000496,Abnormality of eye movement,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0000597,Ophthalmoparesis,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0000643,Blepharospasm,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0000657,Oculomotor apraxia,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0000719,Inappropriate behavior,Occasional (29-5%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0000726,Dementia,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0001260,Dysarthria,Occasional (29-5%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0001268,Mental deterioration,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0001300,Parkinsonism,Obligate (100%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0002063,Rigidity,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0002067,Bradykinesia,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0002527,Falls,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0004302,Functional motor deficit,Occasional (29-5%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0004373,Focal dystonia,Occasional (29-5%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0005329,Fixed facial expression,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0006801,Hyperactive deep tendon reflexes,Occasional (29-5%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0006977,Grammar-specific speech disorder,Occasional (29-5%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0007076,Extrapyramidal muscular rigidity,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0007256,Abnormal pyramidal sign,Occasional (29-5%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0009088,Speech articulation difficulties,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0010522,Dyslexia,Occasional (29-5%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0010526,Dysgraphia,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0011098,Speech apraxia,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0025330,Downgaze palsy,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0030188,Tremor by anatomical site,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004507,Orphanet,99750,ORPHA:99750,29,HP:0031825,Freezing of gait,Frequent (79-30%),TAS,,,,"[PMID:11220749, PMID:14991829, PMID:6685236]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000026,Male hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000044,Hypogonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000134,Female hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000140,Abnormality of the menstrual cycle,Very frequent (99-80%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000141,Amenorrhea,Very frequent (99-80%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000529,Progressive visual loss,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000771,Gynecomastia,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000802,Impotence,Very frequent (99-80%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000830,Anterior hypopituitarism,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000845,Elevated circulating growth hormone concentration,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000858,Irregular menstruation,Very frequent (99-80%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000868,Decreased fertility in females,Very frequent (99-80%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000938,Osteopenia,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000939,Osteoporosis,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0000980,Pallor,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0001117,Sudden loss of visual acuity,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0002315,Headache,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0002321,Vertigo,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0002615,Hypotension,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0002920,Decreased circulating ACTH level,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0003388,Easy fatigability,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0006824,Cranial nerve paralysis,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0006897,Abducens palsy,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0007011,Fourth cranial nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0007942,Internal ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0008240,Secondary growth hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0008245,Pituitary hypothyroidism,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0011362,Abnormal hair quantity,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0011734,Central adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0011735,Adrenocorticotropin deficient adrenal insufficiency,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0011748,Adrenocorticotropic hormone deficiency,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0012041,Decreased fertility in males,Very frequent (99-80%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0012246,Oculomotor nerve palsy,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0012377,Hemianopia,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0012503,Abnormality of the pituitary gland,Very frequent (99-80%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0030016,Dyspareunia,Frequent (79-30%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0030018,Decreased female libido,Very frequent (99-80%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0030517,Heteronymous hemianopia,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0030521,Bitemporal hemianopia,Occasional (29-5%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0100639,Erectile dysfunction,Very frequent (99-80%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004508,Orphanet,2965,ORPHA:2965,50,HP:0100829,Galactorrhea,Very frequent (99-80%),TAS,,,,"[PMID:17993773, PMID:19407509, PMID:21296991, PMID:21753072, PMID:22319033, PMID:22542456, PMID:22720333, PMID:23321498, PMID:24195502, PMID:25208537, PMID:25532043, PMID:26641246]",y,y +GARD:0004509,Orphanet,492,ORPHA:492,3,HP:0002209,Sparse scalp hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0004509,Orphanet,492,ORPHA:492,3,HP:0200040,Epidermoid cyst,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004509,Orphanet,492,ORPHA:492,3,HP:0200042,Skin ulcer,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004527,Orphanet,79278,ORPHA:79278,10,HP:0000964,Eczema,Occasional (29-5%),TAS,,,,,y,y +GARD:0004527,Orphanet,79278,ORPHA:79278,10,HP:0000969,Edema,Occasional (29-5%),TAS,,,,,y,y +GARD:0004527,Orphanet,79278,ORPHA:79278,10,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004527,Orphanet,79278,ORPHA:79278,10,HP:0000992,Cutaneous photosensitivity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004527,Orphanet,79278,ORPHA:79278,10,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004527,Orphanet,79278,ORPHA:79278,10,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004527,Orphanet,79278,ORPHA:79278,10,HP:0001410,Decreased liver function,Occasional (29-5%),TAS,,,,,y,y +GARD:0004527,Orphanet,79278,ORPHA:79278,10,HP:0001935,Microcytic anemia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004527,Orphanet,79278,ORPHA:79278,10,HP:0010472,Abnormal circulating porphyrin concentration,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004527,Orphanet,79278,ORPHA:79278,10,HP:0010783,Erythema,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0000110,Renal dysplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0000411,Protruding ear,Frequent (79-30%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0001274,Agenesis of corpus callosum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0002120,Cerebral cortical atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0002230,Generalized hirsutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0002445,Tetraplegia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0003272,Abnormal hip bone morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0008678,Renal hypoplasia/aplasia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0010720,Abnormal hair pattern,Frequent (79-30%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0004528,Orphanet,2508,ORPHA:2508,21,HP:0011344,Severe global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0001270,Motor delay,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0001283,Bulbar palsy,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0001308,Tongue fasciculations,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0001349,Facial diplegia,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0001558,Decreased fetal movement,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0001662,Bradycardia,Very rare (<4-1%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0001942,Metabolic acidosis,Very rare (<4-1%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002033,Poor suck,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002091,Restrictive ventilatory defect,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002100,Recurrent aspiration pneumonia,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002421,Poor head control,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002460,Distal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002578,Gastroparesis,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002643,Neonatal respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002747,Respiratory insufficiency due to muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002791,Hypoventilation,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002827,Hip dislocation,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002828,Multiple joint contractures,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002878,Respiratory failure,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002942,Thoracic kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0002987,Elbow flexion contracture,Very rare (<4-1%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0003202,Skeletal muscle atrophy,Very frequent (99-80%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0003327,Axial muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0003551,Difficulty climbing stairs,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0003698,Difficulty standing,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0003701,Proximal muscle weakness,Very frequent (99-80%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0003731,Quadriceps muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0004878,Intercostal muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0004891,Recurrent infections due to aspiration,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0006380,Knee flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0006844,Absent patellar reflexes,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0008959,Distal upper limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0009046,Difficulty running,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0009053,Distal lower limb muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0030319,Weakness of facial musculature,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004531,Orphanet,70,ORPHA:70,50,HP:0031108,Triceps weakness,Frequent (79-30%),TAS,,,,"[PMID:20301526, PMID:29478602]",y,y +GARD:0004536,Orphanet,129,ORPHA:129,9,HP:0001581,Recurrent skin infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0004536,Orphanet,129,ORPHA:129,9,HP:0001595,Abnormal hair morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004536,Orphanet,129,ORPHA:129,9,HP:0001596,Alopecia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004536,Orphanet,129,ORPHA:129,9,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,,y,y +GARD:0004536,Orphanet,129,ORPHA:129,9,HP:0002209,Sparse scalp hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004536,Orphanet,129,ORPHA:129,9,HP:0100725,Lichenification,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004536,Orphanet,129,ORPHA:129,9,HP:0100825,Cheilitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004536,Orphanet,129,ORPHA:129,9,HP:0100840,Aplasia/Hypoplasia of the eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0004536,Orphanet,129,ORPHA:129,9,HP:0200034,Papule,Frequent (79-30%),TAS,,,,,y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0000926,Platyspondyly,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0001377,Limited elbow extension,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0001388,Joint laxity,Very frequent (99-80%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0002515,Waddling gait,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0002663,Delayed epiphyseal ossification,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0002758,Osteoarthritis,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0002761,Generalized joint laxity,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0002938,Lumbar hyperlordosis,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0002970,Genu varum,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0003015,Flared metaphysis,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0003016,Metaphyseal widening,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0003025,Metaphyseal irregularity,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0003090,Hypoplasia of the capital femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0003093,Limited hip extension,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0003180,Flat acetabular roof,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0003311,Hypoplasia of the odontoid process,Very rare (<4-1%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0003756,Skeletal myopathy,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0004236,Irregular carpal bones,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0004568,Beaking of vertebral bodies,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0005720,Shortening of all metacarpals,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0006149,Increased laxity of fingers,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0006460,Increased laxity of ankles,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0006499,Abnormality of femoral epiphysis,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0008807,Acetabular dysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0008833,Irregular acetabular roof,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0008839,Hypoplastic pelvis,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0009107,Abnormal ossification involving the femoral head and neck,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0009803,Short phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0009826,Limb undergrowth,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0010579,Cone-shaped epiphysis,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0010582,Irregular epiphyses,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0010585,Small epiphyses,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0010646,Cervical spine instability,Very rare (<4-1%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0020152,Distal joint laxity,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0045086,Knee joint hypermobility,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0100531,Wind-swept deformity of the knees,Frequent (79-30%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004540,Orphanet,750,ORPHA:750,45,HP:0100864,Short femoral neck,Occasional (29-5%),TAS,,,,"[PMID:20301660, PMID:21922596, PMID:29530484]",y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0000545,Myopia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0000648,Optic atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0000649,Abnormality of visual evoked potentials,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0000668,Hypodontia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0001161,Hand polydactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0001347,Hyperreflexia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0001522,Death in infancy,Frequent (79-30%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0010864,"Intellectual disability, severe",Very frequent (99-80%),TAS,,,,,y,y +GARD:0004543,Orphanet,2971,ORPHA:2971,29,HP:0012639,Abnormal nervous system morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000085,Horseshoe kidney,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000218,High palate,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000238,Hydrocephalus,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000256,Macrocephaly,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000322,Short philtrum,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000324,Facial asymmetry,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000337,Broad forehead,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000387,Absent earlobe,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000602,Ophthalmoplegia,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000884,Prominent sternum,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0001156,Brachydactyly,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0001238,Slender finger,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0001611,Nasal speech,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0001655,Patent foramen ovale,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0001746,Asplenia,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0001864,Clinodactyly of the 5th toe,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0002007,Frontal bossing,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0002033,Poor suck,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0002209,Sparse scalp hair,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0002236,Frontal upsweep of hair,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0002996,Limited elbow movement,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0003186,Inverted nipples,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0003473,Fatigable weakness,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0004442,Sagittal craniosynostosis,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0004684,Talipes valgus,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0005048,Synostosis of carpal bones,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0006610,Wide intermamillary distance,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0008598,Mild conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0008947,Infantile muscular hypotonia,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0009739,Hypoplasia of the antihelix,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0009778,Short thumb,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0009891,Underdeveloped supraorbital ridges,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0009911,Abnormal temporal bone morphology,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0010044,Short 4th metacarpal,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0010657,Patchy reduction of bone mineral density,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0010767,Sacrococcygeal pilonidal abnormality,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0011470,Nasogastric tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0025193,Posterolateral diaphragmatic hernia,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0030043,Hip subluxation,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0040025,Clinodactyly of the 4th finger,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0040064,Abnormality of limbs,Frequent (79-30%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0100259,Postaxial polydactyly,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004544,Orphanet,221120,ORPHA:221120,63,HP:0100759,Clubbing of fingers,Occasional (29-5%),TAS,,,,"[PMID:19938091, PMID:22811276, PMID:3621652, PMID:7888136]",y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0000046,Small scrotum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0000271,Abnormality of the face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0000322,Short philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0000368,"Low-set, posteriorly rotated ears",Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0000490,Deeply set eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0000664,Synophrys,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0002162,Low posterior hairline,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0003298,Spina bifida occulta,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0006610,Wide intermamillary distance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0008551,Microtia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0008625,Severe sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004550,Orphanet,2983,ORPHA:2983,23,HP:0010720,Abnormal hair pattern,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0000848,Increased circulating renin level,Very frequent (99-80%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0001047,Atopic dermatitis,Occasional (29-5%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0001081,Cholelithiasis,Occasional (29-5%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0001824,Weight loss,Occasional (29-5%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0001942,Metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0001944,Dehydration,Frequent (79-30%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0002153,Hyperkalemia,Very frequent (99-80%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0002754,Osteomyelitis,Occasional (29-5%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0002902,Hyponatremia,Very frequent (99-80%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0003508,Proportionate short stature,Occasional (29-5%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0011110,Recurrent tonsillitis,Occasional (29-5%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0011740,Glucocortocoid-insensitive primary hyperaldosteronism,Very frequent (99-80%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0030828,Wheezing,Occasional (29-5%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0031274,Hypovolemic shock,Frequent (79-30%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0040085,Abnormal circulating aldosterone,Very frequent (99-80%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0200039,Pustule,Occasional (29-5%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004552,Orphanet,171876,ORPHA:171876,22,HP:0200117,Recurrent upper and lower respiratory tract infections,Frequent (79-30%),TAS,,,,"[PMID:28804203, PMID:31301676]",y,y +GARD:0004553,Orphanet,757,ORPHA:757,9,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0004553,Orphanet,757,ORPHA:757,9,HP:0000682,Abnormal dental enamel morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004553,Orphanet,757,ORPHA:757,9,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004553,Orphanet,757,ORPHA:757,9,HP:0001324,Muscle weakness,Occasional (29-5%),TAS,,,,,y,y +GARD:0004553,Orphanet,757,ORPHA:757,9,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0004553,Orphanet,757,ORPHA:757,9,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,,y,y +GARD:0004553,Orphanet,757,ORPHA:757,9,HP:0002153,Hyperkalemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004553,Orphanet,757,ORPHA:757,9,HP:0003768,Periodic paralysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004553,Orphanet,757,ORPHA:757,9,HP:0004322,Short stature,Occasional (29-5%),TAS,,,,,y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000301,Abnormality of facial musculature,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000363,Abnormal earlobe morphology,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000405,Conductive hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000413,Atresia of the external auditory canal,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000538,Pseudopapilledema,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000581,Blepharophimosis,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000601,Hypotelorism,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000674,Anodontia,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000683,Grayish enamel,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000684,Delayed eruption of teeth,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000689,Dental malocclusion,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0001245,Small thenar eminence,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0001249,Intellectual disability,Excluded (0%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0002705,"High, narrow palate",Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0006143,Abnormal finger flexion creases,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0006184,Decreased palmar creases,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0007481,Hyperpigmented nevi,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0009381,Short finger,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0010049,Short metacarpal,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0010487,Small hypothenar eminence,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0010765,Palmar hyperkeratosis,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0011069,Supernumerary tooth,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0012428,Prominent calcaneus,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0012725,Cutaneous syndactyly,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0012810,Wide nasal base,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004559,Orphanet,2980,ORPHA:2980,42,HP:0030842,Choking episodes,Frequent (79-30%),TAS,,,,"[PMID:1785624, PMID:9415472]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0000572,Visual loss,Occasional (29-5%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0000613,Photophobia,Occasional (29-5%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0000622,Blurred vision,Occasional (29-5%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0000651,Diplopia,Occasional (29-5%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0000716,Depression,Very rare (<4-1%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0001085,Papilledema,Frequent (79-30%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0001254,Lethargy,Very rare (<4-1%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0002018,Nausea,Occasional (29-5%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0002076,Migraine,Very rare (<4-1%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0002315,Headache,Very frequent (99-80%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0002321,Vertigo,Very rare (<4-1%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0002360,Sleep disturbance,Occasional (29-5%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0002516,Increased intracranial pressure,Very frequent (99-80%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0003418,Back pain,Very rare (<4-1%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0008629,Pulsatile tinnitus,Very rare (<4-1%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0010822,Scintillating scotoma,Occasional (29-5%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0011161,Focal sensory seizure with olfactory features,Very rare (<4-1%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0012393,Allergy,Frequent (79-30%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004561,Orphanet,238624,ORPHA:238624,21,HP:0100851,Abnormal emotion/affect behavior,Occasional (29-5%),TAS,,,,"[PMID:28013373, PMID:31213758]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0000248,Brachycephaly,Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0000465,Webbed neck,Obligate (100%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0000537,Epicanthus inversus,Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0002553,Highly arched eyebrow,Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0006247,Enlarged interphalangeal joints,Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0009623,Proximal placement of thumb,Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0009662,Abnormality of the epiphysis of the distal phalanx of the thumb,Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0009836,Broad distal phalanx of finger,Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0025537,Plantar edema,Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004568,Orphanet,2988,ORPHA:2988,16,HP:0025538,Palmar edema,Frequent (79-30%),TAS,,,,"[PMID:4075567, PMID:7205502, PMID:7977463]",y,y +GARD:0004569,Orphanet,2989,ORPHA:2989,3,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004569,Orphanet,2989,ORPHA:2989,3,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004569,Orphanet,2989,ORPHA:2989,3,HP:0007759,Opacification of the corneal stroma,Frequent (79-30%),TAS,,,,,y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0001649,Tachycardia,Occasional (29-5%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0002091,Restrictive ventilatory defect,Frequent (79-30%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0002098,Respiratory distress,Frequent (79-30%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0002789,Tachypnea,Occasional (29-5%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0003651,Foam cells,Occasional (29-5%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0004887,Respiratory failure requiring assisted ventilation,Frequent (79-30%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0010876,Abnormal circulating protein concentration,Very frequent (99-80%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0011949,Acute infectious pneumonia,Occasional (29-5%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0025391,Crazy paving pattern,Frequent (79-30%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0030057,Autoimmune antibody positivity,Occasional (29-5%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0030830,Crackles,Occasional (29-5%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004582,Orphanet,264675,ORPHA:264675,15,HP:0031029,Elevated carcinoembryonic antigen level,Occasional (29-5%),TAS,,,,"[PMID:18955567, PMID:18955570, PMID:21075760, PMID:28212655, PMID:9410898]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0000421,Epistaxis,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0000961,Cyanosis,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0001009,Telangiectasia,Very frequent (99-80%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0001217,Clubbing,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0001250,Seizure,Very rare (<4-1%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0001658,Myocardial infarction,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0001891,Iron deficiency anemia,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0001892,Abnormal bleeding,Frequent (79-30%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0001962,Palpitations,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0001977,Abnormal thrombosis,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0002076,Migraine,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0002094,Dyspnea,Frequent (79-30%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0002105,Hemoptysis,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0002140,Ischemic stroke,Frequent (79-30%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0002326,Transient ischemic attack,Frequent (79-30%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0002722,Recurrent abscess formation,Very rare (<4-1%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0004952,Pulmonary arteriovenous fistulas,Very frequent (99-80%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0005244,Gastrointestinal infarctions,Very rare (<4-1%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0006689,Bacterial endocarditis,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0011919,Pleural empyema,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0012151,Hemothorax,Frequent (79-30%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0012418,Hypoxemia,Frequent (79-30%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0012735,Cough,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0030049,Brain abscess,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0030148,Heart murmur,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0040223,Pulmonary hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004584,Orphanet,2038,ORPHA:2038,28,HP:0100523,Liver abscess,Very rare (<4-1%),TAS,,,,"[PMID:30386957, PMID:31241656, PMID:31326738, PMID:31523570, PMID:3189185]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0000961,Cyanosis,Frequent (79-30%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0001635,Congestive heart failure,Frequent (79-30%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0001636,Tetralogy of Fallot,Occasional (29-5%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0001669,Transposition of the great arteries,Occasional (29-5%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0001680,Coarctation of aorta,Very rare (<4-1%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0002089,Pulmonary hypoplasia,Very rare (<4-1%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0002092,Pulmonary arterial hypertension,Occasional (29-5%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0002875,Exertional dyspnea,Frequent (79-30%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0004383,Hypoplastic left heart,Very rare (<4-1%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0004935,Pulmonary artery atresia,Very rare (<4-1%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0005143,Anomalous origin of right pulmonary artery from ascending aorta,Very frequent (99-80%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0011604,Aortopulmonary window,Occasional (29-5%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0011661,Anomalous origin of left pulmonary artery from ascending aorta,Occasional (29-5%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0012020,Right aortic arch,Very rare (<4-1%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0012303,Abnormal aortic arch morphology,Occasional (29-5%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0012382,Left-to-right shunt,Frequent (79-30%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0030148,Heart murmur,Occasional (29-5%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0030680,Abnormality of cardiovascular system morphology,Very frequent (99-80%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0031014,Arteria lusoria,Occasional (29-5%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0031934,Abnormal descending aorta morphology,Very rare (<4-1%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004586,Orphanet,99050,ORPHA:99050,26,HP:0032092,Left ventricular outflow tract obstruction,Frequent (79-30%),TAS,,,,"[PMID:22467006, PMID:25905931, PMID:32854517]",y,y +GARD:0004598,Orphanet,3188,ORPHA:3188,4,HP:0000822,Hypertension,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004598,Orphanet,3188,ORPHA:3188,4,HP:0001671,Abnormal cardiac septum morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004598,Orphanet,3188,ORPHA:3188,4,HP:0002093,Respiratory insufficiency,Frequent (79-30%),TAS,,,,,y,y +GARD:0004598,Orphanet,3188,ORPHA:3188,4,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004600,Orphanet,1208,ORPHA:1208,5,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,,y,y +GARD:0004600,Orphanet,1208,ORPHA:1208,5,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004600,Orphanet,1208,ORPHA:1208,5,HP:0001702,Abnormal tricuspid valve morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004600,Orphanet,1208,ORPHA:1208,5,HP:0004935,Pulmonary artery atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004600,Orphanet,1208,ORPHA:1208,5,HP:0009800,Maternal diabetes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0000407,Sensorineural hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0000752,Hyperactivity,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0001257,Spasticity,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0001276,Hypertonia,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0001297,Stroke,Very rare (<4-1%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0001888,Lymphopenia,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0001890,Autoimmune hemolytic anemia,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0001973,Autoimmune thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0002205,Recurrent respiratory infections,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0002313,Spastic paraparesis,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0002725,Systemic lupus erythematosus,Very rare (<4-1%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0002843,Abnormal T cell morphology,Very frequent (99-80%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0002960,Autoimmunity,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0003537,Hypouricemia,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0004430,Severe combined immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0005363,Humoral immunodeficiency,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0011442,Abnormal central motor function,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0011935,Decreased urinary urate,Very frequent (99-80%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0032166,Unusual gastrointestinal infection,Frequent (79-30%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0045080,Decreased proportion of CD3-positive T cells,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004606,Orphanet,760,ORPHA:760,29,HP:0100021,Cerebral palsy,Occasional (29-5%),TAS,,,,"[PMID:16176880, PMID:1931007, PMID:22038677, PMID:22132981]",y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0000369,Low-set ears,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0000457,Depressed nasal ridge,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0000465,Webbed neck,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0000773,Short ribs,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0000888,Horizontal ribs,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0002694,Sclerosis of skull base,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0002983,Micromelia,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0003026,Short long bone,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0003175,Hypoplastic ischia,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0003270,Abdominal distention,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0004493,Craniofacial hyperostosis,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0008817,Aplastic pubic bones,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0010306,Short thorax,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0011338,Abnormality of mouth shape,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0011867,Abnormal iliac wing morphology,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0012790,Abnormal intramembranous ossification,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0030290,Unossified sacrum,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0040194,Increased head circumference,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0100540,Palpebral edema,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0100625,Enlarged thorax,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0100748,Muscular edema,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0100856,Poorly ossified vertebrae,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004610,Orphanet,3003,ORPHA:3003,23,HP:0100866,Short iliac bones,Frequent (79-30%),TAS,,,,[PMID:3791681],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000218,High palate,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000444,Convex nasal ridge,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000448,Prominent nose,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000486,Strabismus,Very rare (<4-1%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000520,Proptosis,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000539,Abnormality of refraction,Very rare (<4-1%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000592,Blue sclerae,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000668,Hypodontia,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000680,Delayed eruption of primary teeth,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000689,Dental malocclusion,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000696,Delayed eruption of permanent teeth,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000707,Abnormality of the nervous system,Very rare (<4-1%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000774,Narrow chest,Very rare (<4-1%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000824,Decreased response to growth hormone stimulation test,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0000889,Abnormal clavicle morphology,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0001388,Joint laxity,Very rare (<4-1%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0001433,Hepatosplenomegaly,Very rare (<4-1%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0001597,Abnormality of the nail,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0001601,Laryngomalacia,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0001807,Ridged nail,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0002007,Frontal bossing,Very frequent (99-80%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0002164,Nail dysplasia,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0002308,Chiari malformation,Very rare (<4-1%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0002493,Upper motor neuron dysfunction,Very rare (<4-1%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0002516,Increased intracranial pressure,Very rare (<4-1%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0002645,Wormian bones,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0002659,Increased susceptibility to fractures,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0002808,Kyphosis,Very rare (<4-1%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0002866,Hypoplastic iliac wing,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0002870,Obstructive sleep apnea,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0003027,Mesomelia,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0003302,Spondylolisthesis,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0003304,Spondylolysis,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0003307,Hyperlordosis,Very rare (<4-1%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0004440,Coronal craniosynostosis,Very rare (<4-1%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0004474,Persistent open anterior fontanelle,Very frequent (99-80%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0005446,Obtuse angle of mandible,Very frequent (99-80%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0005789,Generalized osteosclerosis,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0005906,Delayed pneumatization of the mastoid process,Very frequent (99-80%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0006297,Enamel hypoplasia,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0006335,Persistence of primary teeth,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0007266,Cerebral dysmyelination,Very rare (<4-1%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0008598,Mild conductive hearing impairment,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0008905,Rhizomelia,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0009381,Short finger,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0009839,Osteolytic defects of the distal phalanges of the hand,Very frequent (99-80%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0010307,Stridor,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0010884,Acromelia,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0011342,Mild global developmental delay,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0011800,Midface retrusion,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0012532,Chronic pain,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0025502,Overweight,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0030353,Decreased serum insulin-like growth factor 1,Very frequent (99-80%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0100559,Lower limb asymmetry,Occasional (29-5%),TAS,,,,[PMID:33151655],y,y +GARD:0004611,Orphanet,763,ORPHA:763,66,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,[PMID:33151655],y,y +GARD:0004614,Orphanet,764,ORPHA:764,12,HP:0000083,Renal insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0004614,Orphanet,764,ORPHA:764,12,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004614,Orphanet,764,ORPHA:764,12,HP:0001645,Sudden cardiac death,Occasional (29-5%),TAS,,,,,y,y +GARD:0004614,Orphanet,764,ORPHA:764,12,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,,y,y +GARD:0004614,Orphanet,764,ORPHA:764,12,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004614,Orphanet,764,ORPHA:764,12,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004614,Orphanet,764,ORPHA:764,12,HP:0002719,Recurrent infections,Frequent (79-30%),TAS,,,,,y,y +GARD:0004614,Orphanet,764,ORPHA:764,12,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004614,Orphanet,764,ORPHA:764,12,HP:0100614,Myositis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004614,Orphanet,764,ORPHA:764,12,HP:0100616,Testicular teratoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0004614,Orphanet,764,ORPHA:764,12,HP:0100806,Sepsis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004614,Orphanet,764,ORPHA:764,12,HP:0100838,Recurrent cutaneous abscess formation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0000618,Blindness,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0000707,Abnormality of the nervous system,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0001252,Hypotonia,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0001338,Partial agenesis of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0001371,Flexion contracture,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0001518,Small for gestational age,Very frequent (99-80%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0001629,Ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0001761,Pes cavus,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0001999,Abnormal facial shape,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002069,Bilateral tonic-clonic seizure,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002079,Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002100,Recurrent aspiration pneumonia,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002126,Polymicrogyria,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002151,Increased serum lactate,Very frequent (99-80%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002171,Gliosis,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002187,"Intellectual disability, profound",Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002329,Drowsiness,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002350,Cerebellar cyst,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002490,Increased CSF lactate,Very frequent (99-80%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002521,Hypsarrhythmia,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002643,Neonatal respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0002719,Recurrent infections,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0003128,Lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0003542,Increased serum pyruvate,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0004902,Congenital lactic acidosis,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0006799,Basal ganglia cysts,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0006956,Dilation of lateral ventricles,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0006970,Periventricular leukomalacia,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0006999,Basal ganglia gliosis,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0009826,Limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0010576,Intracranial cystic lesion,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0011193,EEG with focal spikes,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0011196,EEG with focal sharp waves,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0011199,EEG with generalized sharp slow waves,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0011471,Gastrostomy tube feeding in infancy,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0011968,Feeding difficulties,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0012128,Basal ganglia necrosis,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0012443,Abnormality of brain morphology,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0012698,Cerebellar gliosis,Occasional (29-5%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0025361,Abnormality of medullary pyramid morphology,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0030917,Low APGAR score,Frequent (79-30%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004620,Orphanet,79243,ORPHA:79243,55,HP:0500231,Abnormal CSF pyruvate family amino acid concentration,Very frequent (99-80%),TAS,,,,"[PMID:1528021, PMID:28584645]",y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000164,Abnormality of the dentition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000176,Submucous cleft hard palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000365,Hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000426,Prominent nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000456,Bifid nasal tip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000482,Microcornea,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000501,Glaucoma,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000508,Ptosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000541,Retinal detachment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000568,Microphthalmia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000612,Iris coloboma,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000677,Oligodontia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0000692,Tooth malposition,Frequent (79-30%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0001083,Ectopia lentis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0001169,Broad palm,Frequent (79-30%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0001634,Mitral valve prolapse,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0001643,Patent ductus arteriosus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0001671,Abnormal cardiac septum morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0001765,Hammertoe,Frequent (79-30%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0002553,Highly arched eyebrow,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0002566,Intestinal malrotation,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0002967,Cubitus valgus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0002974,Radioulnar synostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0004691,2-3 toe syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0004969,Peripheral pulmonary artery stenosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0006315,Solitary median maxillary central incisor,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0009778,Short thumb,Occasional (29-5%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0010327,Flexion contracture of the 2nd toe,Frequent (79-30%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0010339,Flexion contracture of the 4th toe,Frequent (79-30%),TAS,,,,,y,y +GARD:0004628,Orphanet,2712,ORPHA:2712,43,HP:0011090,Fused teeth,Frequent (79-30%),TAS,,,,,y,y +GARD:0004633,Orphanet,3016,ORPHA:3016,9,HP:0000143,Rectovaginal fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0004633,Orphanet,3016,ORPHA:3016,9,HP:0000238,Hydrocephalus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004633,Orphanet,3016,ORPHA:3016,9,HP:0001562,Oligohydramnios,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004633,Orphanet,3016,ORPHA:3016,9,HP:0002023,Anal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004633,Orphanet,3016,ORPHA:3016,9,HP:0002984,Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004633,Orphanet,3016,ORPHA:3016,9,HP:0004871,Perineal fistula,Frequent (79-30%),TAS,,,,,y,y +GARD:0004633,Orphanet,3016,ORPHA:3016,9,HP:0012165,Oligodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004633,Orphanet,3016,ORPHA:3016,9,HP:0025023,Rectal atresia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004633,Orphanet,3016,ORPHA:3016,9,HP:0100257,Ectrodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000010,Recurrent urinary tract infections,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000166,Severe periodontitis,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000189,Narrow palate,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000212,Gingival overgrowth,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000294,Low anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000303,Mandibular prognathia,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000316,Hypertelorism,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000385,Small earlobe,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000403,Recurrent otitis media,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000431,Wide nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000457,Depressed nasal ridge,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000491,Keratitis,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000527,Long eyelashes,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0000729,Autistic behavior,Frequent (79-30%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0001169,Broad palm,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0001251,Ataxia,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0001290,Generalized hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0001347,Hyperreflexia,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0001518,Small for gestational age,Frequent (79-30%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0001537,Umbilical hernia,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0001845,Overlapping toe,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0001935,Microcytic anemia,Frequent (79-30%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0001954,Recurrent fever,Frequent (79-30%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0001974,Leukocytosis,Very frequent (99-80%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0002002,Deep philtrum,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0002028,Chronic diarrhea,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0002240,Hepatomegaly,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0002719,Recurrent infections,Very frequent (99-80%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0006480,Premature loss of teeth,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0006532,Recurrent pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0006895,Lower limb hypertonia,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0007041,Chronic lymphocytic meningitis,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0007333,Hypoplasia of the frontal lobes,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0008551,Microtia,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0009826,Limb undergrowth,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0010808,Protruding tongue,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0010864,"Intellectual disability, severe",Frequent (79-30%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0011229,Broad eyebrow,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0011341,Long upper lip,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0011897,Neutrophilia,Very frequent (99-80%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0020045,Esodeviation,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0031123,Recurrent gastroenteritis,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0031629,Impaired tandem gait,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0100540,Palpebral edema,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0100699,Scarring,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0200037,Skin vesicle,Occasional (29-5%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004634,Orphanet,99843,ORPHA:99843,58,HP:0410292,Abnormal isohemagglutinin level,Very frequent (99-80%),TAS,,,,"[PMID:20099014, PMID:20301507, PMID:31530991]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000160,Narrow mouth,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000217,Xerostomia,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000283,Broad face,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000309,Abnormality of the midface,Very frequent (99-80%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000343,Long philtrum,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000452,Choanal stenosis,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000491,Keratitis,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000533,Chorioretinal atrophy,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000579,Nasolacrimal duct obstruction,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000582,Upslanted palpebral fissure,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000620,Dacryocystitis,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0000742,Self-mutilation,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0001525,Severe failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0001631,Atrial septal defect,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0002194,Delayed gross motor development,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0002209,Sparse scalp hair,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0002251,Aganglionic megacolon,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0003510,Severe short stature,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0004325,Decreased body weight,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0004411,Deviated nasal septum,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0006979,Sleep-wake cycle disturbance,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0007663,Reduced visual acuity,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0007980,Absent retinal pigment epithelium,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0008619,Bilateral sensorineural hearing impairment,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0008872,Feeding difficulties in infancy,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0009890,High anterior hairline,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0010298,Smooth tongue,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0010782,Shoulder dimple,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0011120,Concave nasal ridge,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0011220,Prominent forehead,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0011451,Primary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0012155,Decreased corneal sensation,Very frequent (99-80%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0012332,Abnormal autonomic nervous system physiology,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0012450,Chronic constipation,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0012537,Food intolerance,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0012804,Corneal ulceration,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0030491,Choriocapillaris atrophy,Frequent (79-30%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004636,Orphanet,1051,ORPHA:1051,46,HP:0045025,Narrow palpebral fissure,Occasional (29-5%),TAS,,,,"[PMID:18241069, PMID:21910235, PMID:2433942]",y,y +GARD:0004638,Orphanet,3023,ORPHA:3023,6,HP:0000316,Hypertelorism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004638,Orphanet,3023,ORPHA:3023,6,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004638,Orphanet,3023,ORPHA:3023,6,HP:0000413,Atresia of the external auditory canal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004638,Orphanet,3023,ORPHA:3023,6,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004638,Orphanet,3023,ORPHA:3023,6,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0004638,Orphanet,3023,ORPHA:3023,6,HP:0007598,Bilateral single transverse palmar creases,Occasional (29-5%),TAS,,,,,y,y +GARD:0004641,Orphanet,2278,ORPHA:2278,9,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0004641,Orphanet,2278,ORPHA:2278,9,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0004641,Orphanet,2278,ORPHA:2278,9,HP:0001231,Abnormal fingernail morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004641,Orphanet,2278,ORPHA:2278,9,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004641,Orphanet,2278,ORPHA:2278,9,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004641,Orphanet,2278,ORPHA:2278,9,HP:0003355,Aminoaciduria,Occasional (29-5%),TAS,,,,,y,y +GARD:0004641,Orphanet,2278,ORPHA:2278,9,HP:0003510,Severe short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004641,Orphanet,2278,ORPHA:2278,9,HP:0007479,Congenital nonbullous ichthyosiform erythroderma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004641,Orphanet,2278,ORPHA:2278,9,HP:0008209,Premature ovarian insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0000174,Abnormal palate morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0000486,Strabismus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0000762,Decreased nerve conduction velocity,Frequent (79-30%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0001315,Reduced tendon reflexes,Frequent (79-30%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0002119,Ventriculomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0002120,Cerebral cortical atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0003457,EMG abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0005692,Joint hyperflexibility,Occasional (29-5%),TAS,,,,,y,y +GARD:0004644,Orphanet,1188,ORPHA:1188,17,HP:0007360,Aplasia/Hypoplasia of the cerebellum,Frequent (79-30%),TAS,,,,,y,y +GARD:0004647,Orphanet,83452,ORPHA:83452,12,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,[PMID:10522900],y,y +GARD:0004647,Orphanet,83452,ORPHA:83452,12,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,[PMID:10522900],y,y +GARD:0004647,Orphanet,83452,ORPHA:83452,12,HP:0004305,Involuntary movements,Frequent (79-30%),TAS,,,,[PMID:10522900],y,y +GARD:0004647,Orphanet,83452,ORPHA:83452,12,HP:0008383,Slow-growing nails,Frequent (79-30%),TAS,,,,[PMID:10522900],y,y +GARD:0004647,Orphanet,83452,ORPHA:83452,12,HP:0009763,Limb pain,Very frequent (99-80%),TAS,,,,[PMID:10522900],y,y +GARD:0004647,Orphanet,83452,ORPHA:83452,12,HP:0010741,Pedal edema,Frequent (79-30%),TAS,,,,[PMID:10522900],y,y +GARD:0004647,Orphanet,83452,ORPHA:83452,12,HP:0010742,Edema of the upper limbs,Frequent (79-30%),TAS,,,,[PMID:10522900],y,y +GARD:0004647,Orphanet,83452,ORPHA:83452,12,HP:0010783,Erythema,Frequent (79-30%),TAS,,,,[PMID:10522900],y,y +GARD:0004647,Orphanet,83452,ORPHA:83452,12,HP:0010834,Trophic changes related to pain,Frequent (79-30%),TAS,,,,[PMID:10522900],y,y +GARD:0004647,Orphanet,83452,ORPHA:83452,12,HP:0012533,Allodynia,Frequent (79-30%),TAS,,,,[PMID:10522900],y,y +GARD:0004647,Orphanet,83452,ORPHA:83452,12,HP:0012534,Dysesthesia,Frequent (79-30%),TAS,,,,[PMID:10522900],y,y +GARD:0004647,Orphanet,83452,ORPHA:83452,12,HP:0040170,Abnormality of hair growth,Frequent (79-30%),TAS,,,,[PMID:10522900],y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0000271,Abnormality of the face,Occasional (29-5%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0000365,Hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0000510,Rod-cone dystrophy,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0000662,Nyctalopia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0001133,Constriction of peripheral visual field,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0001251,Ataxia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0001508,Failure to thrive,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0003323,Progressive muscle weakness,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0005930,Abnormality of epiphysis morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0008064,Ichthyosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0008167,Very long chain fatty acid accumulation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0010571,Elevated levels of phytanic acid,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0010628,Facial palsy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004648,Orphanet,772,ORPHA:772,27,HP:0011675,Arrhythmia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004655,Orphanet,2838,ORPHA:2838,6,HP:0000072,Hydroureter,Occasional (29-5%),TAS,,,,,y,y +GARD:0004655,Orphanet,2838,ORPHA:2838,6,HP:0000077,Abnormality of the kidney,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004655,Orphanet,2838,ORPHA:2838,6,HP:0000079,Abnormality of the urinary system,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004655,Orphanet,2838,ORPHA:2838,6,HP:0000126,Hydronephrosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004655,Orphanet,2838,ORPHA:2838,6,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004655,Orphanet,2838,ORPHA:2838,6,HP:0010935,Abnormality of the upper urinary tract,Occasional (29-5%),TAS,,,,,y,y +GARD:0004665,Orphanet,3032,ORPHA:3032,10,HP:0000003,Multicystic kidney dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004665,Orphanet,3032,ORPHA:3032,10,HP:0000110,Renal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004665,Orphanet,3032,ORPHA:3032,10,HP:0001305,Dandy-Walker malformation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004665,Orphanet,3032,ORPHA:3032,10,HP:0001561,Polyhydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0004665,Orphanet,3032,ORPHA:3032,10,HP:0001562,Oligohydramnios,Frequent (79-30%),TAS,,,,,y,y +GARD:0004665,Orphanet,3032,ORPHA:3032,10,HP:0001732,Abnormality of the pancreas,Frequent (79-30%),TAS,,,,,y,y +GARD:0004665,Orphanet,3032,ORPHA:3032,10,HP:0002089,Pulmonary hypoplasia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004665,Orphanet,3032,ORPHA:3032,10,HP:0002566,Intestinal malrotation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004665,Orphanet,3032,ORPHA:3032,10,HP:0012440,Abnormal biliary tract morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004665,Orphanet,3032,ORPHA:3032,10,HP:0030146,Abnormal liver parenchyma morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0000114,Proximal tubulopathy,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0000121,Nephrocalcinosis,Very frequent (99-80%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0000128,Renal potassium wasting,Frequent (79-30%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0000407,Sensorineural hearing impairment,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0000787,Nephrolithiasis,Frequent (79-30%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0001878,Hemolytic anemia,Very rare (<4-1%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0001944,Dehydration,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0001959,Polydipsia,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0001996,Chronic metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0002013,Vomiting,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0002019,Constipation,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0002150,Hypercalciuria,Frequent (79-30%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0002653,Bone pain,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0002659,Increased susceptibility to fractures,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0002747,Respiratory insufficiency due to muscle weakness,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0002748,Rickets,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0002749,Osteomalacia,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0002900,Hypokalemia,Very frequent (99-80%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0003109,Hyperphosphaturia,Frequent (79-30%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0003126,Low-molecular-weight proteinuria,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0003355,Aminoaciduria,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0003470,Paralysis,Very rare (<4-1%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0004349,Reduced bone mineral density,Very frequent (99-80%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0004396,Poor appetite,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0004918,Hyperchloremic metabolic acidosis,Very frequent (99-80%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0011387,Enlarged vestibular aqueduct,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0011964,Intermittent painful muscle spasms,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0012213,Decreased glomerular filtration rate,Occasional (29-5%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0012405,Hypocitraturia,Very frequent (99-80%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0012608,Hypermagnesiuria,Frequent (79-30%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004667,Orphanet,18,ORPHA:18,37,HP:0032066,Decreased serum bicarbonate concentration,Very frequent (99-80%),TAS,,,,"[PMID:30139458, PMID:31600044]",y,y +GARD:0004680,Orphanet,1852,ORPHA:1852,6,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004680,Orphanet,1852,ORPHA:1852,6,HP:0000505,Visual impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004680,Orphanet,1852,ORPHA:1852,6,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004680,Orphanet,1852,ORPHA:1852,6,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004680,Orphanet,1852,ORPHA:1852,6,HP:0007973,Retinal dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004680,Orphanet,1852,ORPHA:1852,6,HP:0008046,Abnormal retinal vascular morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0000147,Polycystic ovaries,Occasional (29-5%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0000280,Coarse facial features,Frequent (79-30%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0000518,Cataract,Frequent (79-30%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0000639,Nystagmus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0000815,Hypergonadotropic hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0000842,Hyperinsulinemia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0000869,Secondary amenorrhea,Frequent (79-30%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0000956,Acanthosis nigricans,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0000958,Dry skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0001156,Brachydactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0001272,Cerebellar atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0001769,Broad foot,Frequent (79-30%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0001831,Short toe,Frequent (79-30%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0003307,Hyperlordosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0005978,Type II diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0007703,Abnormality of retinal pigmentation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004683,Orphanet,3085,ORPHA:3085,27,HP:0010562,Keloids,Frequent (79-30%),TAS,,,,,y,y +GARD:0004690,Orphanet,792,ORPHA:792,7,HP:0000478,Abnormality of the eye,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004690,Orphanet,792,ORPHA:792,7,HP:0000496,Abnormality of eye movement,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004690,Orphanet,792,ORPHA:792,7,HP:0000501,Glaucoma,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004690,Orphanet,792,ORPHA:792,7,HP:0000504,Abnormality of vision,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004690,Orphanet,792,ORPHA:792,7,HP:0000512,Abnormal electroretinogram,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004690,Orphanet,792,ORPHA:792,7,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004690,Orphanet,792,ORPHA:792,7,HP:0030502,Retinoschisis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0000713,Agitation,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0000723,Restrictive behavior,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0000729,Autistic behavior,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0000735,Impaired social interactions,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0000748,Inappropriate laughter,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0000817,Poor eye contact,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0001257,Spasticity,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0001319,Neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0001332,Dystonia,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0001337,Tremor,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0001510,Growth delay,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0001773,Short foot,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002123,Generalized myoclonic seizure,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002186,Apraxia,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002194,Delayed gross motor development,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002300,Mutism,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002353,EEG abnormality,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002360,Sleep disturbance,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002371,Loss of speech,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002376,Developmental regression,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002540,Inability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002793,Abnormal pattern of respiration,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002808,Kyphosis,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002876,Episodic tachypnea,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0002882,Sudden episodic apnea,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0003808,Abnormal muscle tone,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0004302,Functional motor deficit,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0004305,Involuntary movements,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0005484,Secondary microcephaly,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0006957,Loss of ability to walk,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0007281,Developmental stagnation,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0007328,Impaired pain sensation,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0007824,Total ophthalmoplegia,Excluded (0%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0011344,Severe global developmental delay,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0012171,Stereotypical hand wringing,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0012469,Infantile spasms,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0012719,Functional abnormality of the gastrointestinal tract,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0025269,Panic attack,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0025387,Pill-rolling tremor,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0030215,Inappropriate crying,Occasional (29-5%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0032588,Hand apraxia,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0045084,Limb myoclonus,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0100022,Abnormality of movement,Very frequent (99-80%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0100703,Tongue thrusting,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004694,Orphanet,3095,ORPHA:3095,53,HP:0200055,Small hand,Frequent (79-30%),TAS,,,,"[PMID:20301670, PMID:30929312, PMID:31049350]",y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0000217,Xerostomia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0000989,Pruritus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0001097,Keratoconjunctivitis sicca,Frequent (79-30%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0001369,Arthritis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0001394,Cirrhosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0001945,Fever,Frequent (79-30%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0002020,Gastroesophageal reflux,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0002093,Respiratory insufficiency,Occasional (29-5%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0002383,Infectious encephalitis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0003326,Myalgia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0004295,Abnormal gastric mucosa morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0007400,Irregular hyperpigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0011354,Generalized abnormality of skin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0011838,Sclerodactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0100579,Mucosal telangiectasiae,Frequent (79-30%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0100585,Telangiectasia of the skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0100725,Lichenification,Occasional (29-5%),TAS,,,,,y,y +GARD:0004697,Orphanet,779,ORPHA:779,24,HP:0200042,Skin ulcer,Frequent (79-30%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0000303,Mandibular prognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0000445,Wide nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0002812,Coxa vara,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0003307,Hyperlordosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0004097,Deviation of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0005687,Deformed humeral heads,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0005792,Short humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004703,Orphanet,2831,ORPHA:2831,17,HP:0100729,Large face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0000157,Abnormality of the tongue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0000218,High palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0000260,Wide anterior fontanel,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0000470,Short neck,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0001061,Acne,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0001177,Preaxial hand polydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0001199,Triphalangeal thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0001376,Limitation of joint mobility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0001642,Pulmonic stenosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0002808,Kyphosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0002815,Abnormality of the knee,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0002827,Hip dislocation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0003063,Abnormality of the humerus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0005280,Depressed nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0005930,Abnormality of epiphysis morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0008905,Rhizomelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0009811,Abnormality of the elbow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0009882,Short distal phalanx of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0011362,Abnormal hair quantity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004705,Orphanet,3098,ORPHA:3098,26,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0000160,Narrow mouth,Excluded (0%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0000164,Abnormality of the dentition,Excluded (0%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0000294,Low anterior hairline,Excluded (0%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0000369,Low-set ears,Excluded (0%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0000470,Short neck,Excluded (0%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0000565,Esotropia,Occasional (29-5%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0000581,Blepharophimosis,Excluded (0%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0000768,Pectus carinatum,Very frequent (99-80%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0001265,Hyporeflexia,Occasional (29-5%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0001284,Areflexia,Occasional (29-5%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0001373,Joint dislocation,Excluded (0%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0001376,Limitation of joint mobility,Excluded (0%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0001540,Diastasis recti,Excluded (0%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0001620,High pitched voice,Excluded (0%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0001621,Weak voice,Frequent (79-30%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0001840,Metatarsus adductus,Occasional (29-5%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0002015,Dysphagia,Frequent (79-30%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0002187,"Intellectual disability, profound",Very frequent (99-80%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0002527,Falls,Frequent (79-30%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0002540,Inability to walk,Occasional (29-5%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0002751,Kyphoscoliosis,Very frequent (99-80%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0003199,Decreased muscle mass,Occasional (29-5%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0003712,Skeletal muscle hypertrophy,Frequent (79-30%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0004568,Beaking of vertebral bodies,Occasional (29-5%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0005638,Decreased anterioposterior diameter of lumbar vertebral bodies,Frequent (79-30%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0006462,Generalized bone demineralization,Very frequent (99-80%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0007156,Asymmetric limb muscle stiffness,Occasional (29-5%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0008422,Vertebral wedging,Frequent (79-30%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0009053,Distal lower limb muscle weakness,Frequent (79-30%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0011964,Intermittent painful muscle spasms,Very frequent (99-80%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0012368,Flat face,Excluded (0%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0012899,Handgrip myotonia,Very frequent (99-80%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0012903,Myotonia of the upper limb,Very frequent (99-80%),TAS,,,,[PMID:6716408],y,y +GARD:0004709,Orphanet,3101,ORPHA:3101,36,HP:0100288,EMG: myokymic discharges,Frequent (79-30%),TAS,,,,[PMID:6716408],y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0000961,Cyanosis,Very frequent (99-80%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0001217,Clubbing,Frequent (79-30%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0001640,Cardiomegaly,Occasional (29-5%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0001655,Patent foramen ovale,Frequent (79-30%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0001694,Right-to-left shunt,Very frequent (99-80%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0001708,Right ventricular failure,Frequent (79-30%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0002094,Dyspnea,Very frequent (99-80%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0005150,Abnormal atrioventricular conduction,Occasional (29-5%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0005180,Tricuspid regurgitation,Frequent (79-30%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0010741,Pedal edema,Occasional (29-5%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0011623,Muscular ventricular septal defect,Occasional (29-5%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0011712,Right bundle branch block,Occasional (29-5%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0012383,Bidirectional shunt,Occasional (29-5%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0012418,Hypoxemia,Very frequent (99-80%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0030718,Right atrial enlargement,Frequent (79-30%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004721,Orphanet,439,ORPHA:439,19,HP:0031664,Systolic heart murmur,Frequent (79-30%),TAS,,,,"[PMID:30805240, PMID:33123333]",y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000135,Hypogonadism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000176,Submucous cleft hard palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000298,Mask-like facies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000377,Abnormal pinna morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000457,Depressed nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0000653,Sparse eyelashes,Occasional (29-5%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0001263,Global developmental delay,Frequent (79-30%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0001363,Craniosynostosis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0001376,Limitation of joint mobility,Frequent (79-30%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0001852,Sandal gap,Frequent (79-30%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0005288,Abnormality of the nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0006101,Finger syndactyly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0006610,Wide intermamillary distance,Frequent (79-30%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0008577,Underfolded helix,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0010720,Abnormal hair pattern,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0010781,Skin dimple,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0100024,Conspicuously happy disposition,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0004722,Orphanet,178303,ORPHA:178303,32,HP:0100679,Lack of skin elasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0000467,Neck muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0001265,Hyporeflexia,Frequent (79-30%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0002090,Pneumonia,Frequent (79-30%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0002421,Poor head control,Frequent (79-30%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0002515,Waddling gait,Occasional (29-5%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0002650,Scoliosis,Very frequent (99-80%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0003089,Hamstring contractures,Frequent (79-30%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0003198,Myopathy,Very frequent (99-80%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0003202,Skeletal muscle atrophy,Frequent (79-30%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0003273,Hip contracture,Frequent (79-30%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0003306,Spinal rigidity,Very frequent (99-80%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0003307,Hyperlordosis,Frequent (79-30%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0003391,Gowers sign,Occasional (29-5%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0011842,Abnormal skeletal morphology,Very frequent (99-80%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0030878,Abnormality on pulmonary function testing,Frequent (79-30%),TAS,,,,[PMID:10665485],y,y +GARD:0004723,Orphanet,97244,ORPHA:97244,20,HP:0031546,Cardiac conduction abnormality,Frequent (79-30%),TAS,,,,[PMID:10665485],y,y +GARD:0004729,Orphanet,3104,ORPHA:3104,10,HP:0000162,Glossoptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004729,Orphanet,3104,ORPHA:3104,10,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,,y,y +GARD:0004729,Orphanet,3104,ORPHA:3104,10,HP:0000175,Cleft palate,Frequent (79-30%),TAS,,,,,y,y +GARD:0004729,Orphanet,3104,ORPHA:3104,10,HP:0000275,Narrow face,Frequent (79-30%),TAS,,,,,y,y +GARD:0004729,Orphanet,3104,ORPHA:3104,10,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004729,Orphanet,3104,ORPHA:3104,10,HP:0001180,Hand oligodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004729,Orphanet,3104,ORPHA:3104,10,HP:0002997,Abnormality of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004729,Orphanet,3104,ORPHA:3104,10,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0004729,Orphanet,3104,ORPHA:3104,10,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0004729,Orphanet,3104,ORPHA:3104,10,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0000164,Abnormality of the dentition,Frequent (79-30%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0000268,Dolichocephaly,Occasional (29-5%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0000348,High forehead,Occasional (29-5%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0000677,Oligodontia,Frequent (79-30%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0001057,Aplasia cutis congenita,Occasional (29-5%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0001199,Triphalangeal thumb,Frequent (79-30%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0001800,Hypoplastic toenails,Occasional (29-5%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0001802,Absent toenail,Frequent (79-30%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0001817,Absent fingernail,Very frequent (99-80%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0002465,Poor speech,Occasional (29-5%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0008386,Aplasia/Hypoplasia of the nails,Frequent (79-30%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0008625,Severe sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0009778,Short thumb,Occasional (29-5%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0012554,Absent thumbnail,Occasional (29-5%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0200104,Absent fifth fingernail,Occasional (29-5%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004732,Orphanet,79499,ORPHA:79499,20,HP:0200141,"Small, conical teeth",Occasional (29-5%),TAS,,,,"[PMID:21998865, PMID:24421866, PMID:24913193, PMID:28396750]",y,y +GARD:0004733,Orphanet,529,ORPHA:529,4,HP:0000979,Purpura,Very rare (<4-1%),TAS,,,,[PMID:6540899],y,y +GARD:0004733,Orphanet,529,ORPHA:529,4,HP:0001012,Multiple lipomas,Frequent (79-30%),TAS,,,,[PMID:6540899],y,y +GARD:0004733,Orphanet,529,ORPHA:529,4,HP:0001482,Subcutaneous nodule,Very frequent (99-80%),TAS,,,,[PMID:6540899],y,y +GARD:0004733,Orphanet,529,ORPHA:529,4,HP:0001873,Thrombocytopenia,Very rare (<4-1%),TAS,,,,[PMID:6540899],y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0000457,Depressed nasal ridge,Occasional (29-5%),TAS,,,,,y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0000691,Microdontia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0000787,Nephrolithiasis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0001608,Abnormality of the voice,Occasional (29-5%),TAS,,,,,y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0002750,Delayed skeletal maturation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0002991,Abnormality of fibula morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0002997,Abnormality of the ulna,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0003272,Abnormal hip bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0003312,Abnormal form of the vertebral bodies,Frequent (79-30%),TAS,,,,,y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0005916,Abnormal metacarpal morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0006482,Abnormality of dental morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004740,Orphanet,1837,ORPHA:1837,15,HP:0006501,Aplasia/Hypoplasia of the radius,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0001284,Areflexia,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0001761,Pes cavus,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0001762,Talipes equinovarus,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0002066,Gait ataxia,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0002070,Limb ataxia,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0002174,Postural tremor,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0002312,Clumsiness,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0002317,Unsteady gait,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0002355,Difficulty walking,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0002359,Frequent falls,Occasional (29-5%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0002495,Impaired vibratory sensation,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0002751,Kyphoscoliosis,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0002839,Urinary bladder sphincter dysfunction,Occasional (29-5%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0003202,Skeletal muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0003431,Decreased motor nerve conduction velocity,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0003474,Somatic sensory dysfunction,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0003487,Babinski sign,Occasional (29-5%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0003693,Distal amyotrophy,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0007131,Acute demyelinating polyneuropathy,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0007141,Sensorimotor neuropathy,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0007328,Impaired pain sensation,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0007340,Lower limb muscle weakness,Frequent (79-30%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004741,Orphanet,3115,ORPHA:3115,26,HP:0008954,Intrinsic hand muscle atrophy,Occasional (29-5%),TAS,,,,"[PMID:18592125, PMID:29469679]",y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0000235,Abnormality of the fontanelles or cranial sutures,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0000252,Microcephaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0000407,Sensorineural hearing impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0000518,Cataract,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0000568,Microphthalmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0000639,Nystagmus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0000944,Abnormality of the metaphysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0000952,Jaundice,Occasional (29-5%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0000988,Skin rash,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0001252,Hypotonia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0001264,Spastic diplegia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0001629,Ventricular septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0001631,Atrial septal defect,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0001643,Patent ductus arteriosus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0001744,Splenomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0001903,Anemia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0002167,Neurological speech impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0004414,Abnormality of the pulmonary artery,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0007703,Abnormality of retinal pigmentation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0007957,Corneal opacity,Occasional (29-5%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0008053,Aplasia/Hypoplasia of the iris,Frequent (79-30%),TAS,,,,,y,y +GARD:0004744,Orphanet,290,ORPHA:290,31,HP:0100651,Type I diabetes mellitus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000023,Inguinal hernia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000233,Thin vermilion border,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000252,Microcephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000444,Convex nasal ridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000512,Abnormal electroretinogram,Occasional (29-5%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000649,Abnormality of visual evoked potentials,Occasional (29-5%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000678,Dental crowding,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000790,Hematuria,Occasional (29-5%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0000823,Delayed puberty,Occasional (29-5%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0001053,Hypopigmented skin patches,Occasional (29-5%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0001263,Global developmental delay,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0001511,Intrauterine growth retardation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0002230,Generalized hirsutism,Occasional (29-5%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0004209,Clinodactyly of the 5th finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0005048,Synostosis of carpal bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0009623,Proximal placement of thumb,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0009811,Abnormality of the elbow,Frequent (79-30%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0010049,Short metacarpal,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0010579,Cone-shaped epiphysis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0100542,Abnormal localization of kidney,Occasional (29-5%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0100734,Abnormality of vertebral epiphysis morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004748,Orphanet,3121,ORPHA:3121,36,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0000197,Abnormal parotid gland morphology,Occasional (29-5%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0000364,Hearing abnormality,Frequent (79-30%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0000769,Abnormality of the breast,Occasional (29-5%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0000834,Abnormality of the adrenal glands,Occasional (29-5%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0001291,Abnormal cranial nerve morphology,Very frequent (99-80%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0001392,Abnormality of the liver,Occasional (29-5%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0001600,Abnormality of the larynx,Occasional (29-5%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0002011,Morphological central nervous system abnormality,Occasional (29-5%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0002031,Abnormal esophagus morphology,Occasional (29-5%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0002321,Vertigo,Frequent (79-30%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0002991,Abnormality of fibula morphology,Occasional (29-5%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0003489,Acute episodes of neuropathic symptoms,Occasional (29-5%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0009588,Vestibular schwannoma,Very frequent (99-80%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0009593,Peripheral Schwannoma,Very frequent (99-80%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0009911,Abnormal temporal bone morphology,Very frequent (99-80%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0010826,Abnormality of the twelfth cranial nerve,Occasional (29-5%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0012531,Pain,Occasional (29-5%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0012533,Allodynia,Frequent (79-30%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0030177,Abnormality of peripheral nervous system electrophysiology,Very frequent (99-80%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0100008,Schwannoma,Very frequent (99-80%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0100011,Scleral schwannoma,Very frequent (99-80%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0100582,Nasal polyposis,Occasional (29-5%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0100697,Neurofibrosarcoma,Excluded (0%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004767,Orphanet,252164,ORPHA:252164,25,HP:0200008,Intestinal polyposis,Occasional (29-5%),TAS,,,,"[DOI:10.4267/2042/37765, PMID:12437849, PMID:16823047, PMID:2013780, PMID:23681039, PMID:23808475, PMID:24978928, PMID:25077322, PMID:25549149, PMID:2577271, PMID:25965126, PMID:7484619, PMID:8283540, PMID:8427574, PMID:8578360, PMID:8730376, PMID:8889506, PMID:9326316]",y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0000174,Abnormal palate morphology,Very frequent (99-80%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0000473,Torticollis,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0000565,Esotropia,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0001181,Adducted thumb,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0001238,Slender finger,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0001290,Generalized hypotonia,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0001324,Muscle weakness,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0001371,Flexion contracture,Very frequent (99-80%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0001558,Decreased fetal movement,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0002359,Frequent falls,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0002808,Kyphosis,Very frequent (99-80%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0002827,Hip dislocation,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0002878,Respiratory failure,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0002987,Elbow flexion contracture,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0003236,Elevated circulating creatine kinase concentration,Very frequent (99-80%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0003306,Spinal rigidity,Very frequent (99-80%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0003324,Generalized muscle weakness,Very frequent (99-80%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0003458,EMG: myopathic abnormalities,Very frequent (99-80%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0003557,Increased variability in muscle fiber diameter,Very frequent (99-80%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0003700,Generalized amyotrophy,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0004303,Abnormal muscle fiber morphology,Very frequent (99-80%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0005072,Hyperextensibility at wrists,Very frequent (99-80%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0006149,Increased laxity of fingers,Very frequent (99-80%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0006380,Knee flexion contracture,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0008081,Pes valgus,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0009113,Diaphragmatic weakness,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0010511,Long toe,Frequent (79-30%),TAS,,,,[PMID:11381124],y,y +GARD:0004769,Orphanet,75840,ORPHA:75840,31,HP:0100297,Increased endomysial connective tissue,Very frequent (99-80%),TAS,,,,[PMID:11381124],y,y +GARD:0004771,Orphanet,3152,ORPHA:3152,14,HP:0000098,Tall stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004771,Orphanet,3152,ORPHA:3152,14,HP:0000366,Abnormality of the nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004771,Orphanet,3152,ORPHA:3152,14,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004771,Orphanet,3152,ORPHA:3152,14,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004771,Orphanet,3152,ORPHA:3152,14,HP:0000648,Optic atrophy,Occasional (29-5%),TAS,,,,,y,y +GARD:0004771,Orphanet,3152,ORPHA:3152,14,HP:0001233,2-3 finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004771,Orphanet,3152,ORPHA:3152,14,HP:0003103,Abnormal cortical bone morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004771,Orphanet,3152,ORPHA:3152,14,HP:0004493,Craniofacial hyperostosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004771,Orphanet,3152,ORPHA:3152,14,HP:0005019,Diaphyseal thickening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004771,Orphanet,3152,ORPHA:3152,14,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004771,Orphanet,3152,ORPHA:3152,14,HP:0009838,Curved distal phalanges of the hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004771,Orphanet,3152,ORPHA:3152,14,HP:0010628,Facial palsy,Frequent (79-30%),TAS,,,,,y,y +GARD:0004771,Orphanet,3152,ORPHA:3152,14,HP:0011001,Increased bone mineral density,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004771,Orphanet,3152,ORPHA:3152,14,HP:0100798,Fingernail dysplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000049,Shawl scrotum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000164,Abnormality of the dentition,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000175,Cleft palate,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000202,Oral cleft,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000204,Cleft upper lip,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000232,Everted lower lip vermilion,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000311,Round face,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000327,Hypoplasia of the maxilla,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000337,Broad forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000431,Wide nasal bridge,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000463,Anteverted nares,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000470,Short neck,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000485,Megalocornea,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000486,Strabismus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000494,Downslanted palpebral fissures,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000684,Delayed eruption of teeth,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000767,Pectus excavatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000954,Single transverse palmar crease,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0000974,Hyperextensible skin,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0001169,Broad palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0001537,Umbilical hernia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0001635,Congestive heart failure,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0001763,Pes planus,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0001769,Broad foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0001883,Talipes,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0002816,Genu recurvatum,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0003319,Abnormality of the cervical spine,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0005640,Abnormal vertebral segmentation and fusion,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0006101,Finger syndactyly,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0007018,Attention deficit hyperactivity disorder,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0008572,External ear malformation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0009890,High anterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0030680,Abnormality of cardiovascular system morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0100543,Cognitive impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004775,Orphanet,915,ORPHA:915,49,HP:0200055,Small hand,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004776,Orphanet,1514,ORPHA:1514,14,HP:0000248,Brachycephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004776,Orphanet,1514,ORPHA:1514,14,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004776,Orphanet,1514,ORPHA:1514,14,HP:0000446,Narrow nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004776,Orphanet,1514,ORPHA:1514,14,HP:0000527,Long eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004776,Orphanet,1514,ORPHA:1514,14,HP:0000574,Thick eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004776,Orphanet,1514,ORPHA:1514,14,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004776,Orphanet,1514,ORPHA:1514,14,HP:0002230,Generalized hirsutism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004776,Orphanet,1514,ORPHA:1514,14,HP:0003196,Short nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004776,Orphanet,1514,ORPHA:1514,14,HP:0003298,Spina bifida occulta,Occasional (29-5%),TAS,,,,,y,y +GARD:0004776,Orphanet,1514,ORPHA:1514,14,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004776,Orphanet,1514,ORPHA:1514,14,HP:0006101,Finger syndactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004776,Orphanet,1514,ORPHA:1514,14,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004776,Orphanet,1514,ORPHA:1514,14,HP:0010720,Abnormal hair pattern,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004776,Orphanet,1514,ORPHA:1514,14,HP:0100874,Thick hair,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0000049,Shawl scrotum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0000239,Large fontanelles,Frequent (79-30%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0000303,Mandibular prognathia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0000411,Protruding ear,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0000508,Ptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0001256,"Intellectual disability, mild",Frequent (79-30%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0001608,Abnormality of the voice,Frequent (79-30%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0001928,Abnormality of coagulation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0002162,Low posterior hairline,Frequent (79-30%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0002167,Neurological speech impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0002857,Genu valgum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0002967,Cubitus valgus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0003764,Nevus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0004778,Orphanet,1778,ORPHA:1778,24,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0000975,Hyperhidrosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0000980,Pallor,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0001250,Seizure,Frequent (79-30%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0001251,Ataxia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0001288,Gait disturbance,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0002014,Diarrhea,Occasional (29-5%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0002017,Nausea and vomiting,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0002045,Hypothermia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0002793,Abnormal pattern of respiration,Occasional (29-5%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0004372,Reduced consciousness/confusion,Frequent (79-30%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0007370,Aplasia/Hypoplasia of the corpus callosum,Occasional (29-5%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0011675,Arrhythmia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004815,Orphanet,29822,ORPHA:29822,16,HP:0012378,Fatigue,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0000509,Conjunctivitis,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0000554,Uveitis,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0000979,Purpura,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0001025,Urticaria,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0001369,Arthritis,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0001396,Cholestasis,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0001399,Hepatic failure,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0001531,Failure to thrive in infancy,Occasional (29-5%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0001873,Thrombocytopenia,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0001919,Acute kidney injury,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0001937,Microangiopathic hemolytic anemia,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0001943,Hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0001944,Dehydration,Frequent (79-30%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0001945,Fever,Very frequent (99-80%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0001974,Leukocytosis,Frequent (79-30%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0002013,Vomiting,Frequent (79-30%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0002018,Nausea,Frequent (79-30%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0002027,Abdominal pain,Very frequent (99-80%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0002090,Pneumonia,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0002373,Febrile seizure (within the age range of 3 months to 6 years),Occasional (29-5%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0002586,Peritonitis,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0002590,Paralytic ileus,Occasional (29-5%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0002721,Immunodeficiency,Occasional (29-5%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0002902,Hyponatremia,Occasional (29-5%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0003111,Abnormal blood ion concentration,Frequent (79-30%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0003201,Rhabdomyolysis,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0005575,Hemolytic-uremic syndrome,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0009830,Peripheral neuropathy,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0012378,Fatigue,Frequent (79-30%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0012702,Tenesmus,Frequent (79-30%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0012804,Corneal ulceration,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0012819,Myocarditis,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0025059,Splenic abscess,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0025085,Bloody diarrhea,Occasional (29-5%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0025086,Bloody mucoid diarrhea,Very frequent (99-80%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0025406,Asthenia,Frequent (79-30%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0025615,Abscess,Occasional (29-5%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0031274,Hypovolemic shock,Occasional (29-5%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0031368,Intestinal perforation,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0031864,Bacteremia,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0032155,Abdominal cramps,Very frequent (99-80%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0100279,Ulcerative colitis,Occasional (29-5%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0100282,Acute colitis,Occasional (29-5%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004818,Orphanet,810,ORPHA:810,46,HP:0500006,Urethritis,Very rare (<4-1%),TAS,,,,"[PMID:17399943, PMID:24891600, PMID:27556171]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0000252,Microcephaly,Very rare (<4-1%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0000648,Optic atrophy,Very rare (<4-1%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0000708,Behavioral abnormality,Occasional (29-5%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0000750,Delayed speech and language development,Occasional (29-5%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0001250,Seizure,Occasional (29-5%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0001254,Lethargy,Occasional (29-5%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0001276,Hypertonia,Very rare (<4-1%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0001332,Dystonia,Occasional (29-5%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0001397,Hepatic steatosis,Occasional (29-5%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0001511,Intrauterine growth retardation,Very rare (<4-1%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0001638,Cardiomyopathy,Occasional (29-5%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0001942,Metabolic acidosis,Frequent (79-30%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0001999,Abnormal facial shape,Occasional (29-5%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0002098,Respiratory distress,Occasional (29-5%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0003198,Myopathy,Occasional (29-5%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0003219,Ethylmalonic aciduria,Frequent (79-30%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0006929,Hypoglycemic encephalopathy,Occasional (29-5%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0008947,Infantile muscular hypotonia,Frequent (79-30%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0011968,Feeding difficulties,Frequent (79-30%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0012734,Ketotic hypoglycemia,Occasional (29-5%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0012758,Neurodevelopmental delay,Frequent (79-30%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0045045,Elevated circulating acylcarnitine concentration,Frequent (79-30%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004822,Orphanet,26792,ORPHA:26792,24,HP:0410153,Increased level of methylsuccinic acid in urine,Frequent (79-30%),TAS,,,,"[PMID:18054510, PMID:18523805, PMID:21938826]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000062,Ambiguous genitalia,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000089,Renal hypoplasia,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000107,Renal cyst,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000126,Hydronephrosis,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000204,Cleft upper lip,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000286,Epicanthus,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000343,Long philtrum,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000445,Wide nose,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000518,Cataract,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000773,Short ribs,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000774,Narrow chest,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0000944,Abnormality of the metaphysis,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0001162,Postaxial hand polydactyly,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0001177,Preaxial hand polydactyly,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0001274,Agenesis of corpus callosum,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0001305,Dandy-Walker malformation,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0001321,Cerebellar hypoplasia,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0001539,Omphalocele,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0001773,Short foot,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0001789,Hydrops fetalis,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0002006,Facial cleft,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0002023,Anal atresia,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0002032,Esophageal atresia,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0002089,Pulmonary hypoplasia,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0002093,Respiratory insufficiency,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0002612,Congenital hepatic fibrosis,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0002983,Micromelia,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0003270,Abdominal distention,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0003762,Uterus didelphys,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0004279,Short palm,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0004397,Ectopic anus,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0004599,Absent or minimally ossified vertebral bodies,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0005280,Depressed nasal bridge,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0005716,Lethal skeletal dysplasia,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0008716,Urethrovaginal fistula,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0008736,Hypoplasia of penis,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0008873,Disproportionate short-limb short stature,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0009106,Abnormal pelvis bone ossification,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0010297,Bifid tongue,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0010306,Short thorax,Very frequent (99-80%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0010564,Bifid epiglottis,Occasional (29-5%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004835,Orphanet,93271,ORPHA:93271,47,HP:0030680,Abnormality of cardiovascular system morphology,Frequent (79-30%),TAS,,,,"[ISBN:0195214749, PMID:11316927, PMID:16113563]",y,y +GARD:0004838,Orphanet,2867,ORPHA:2867,10,HP:0000085,Horseshoe kidney,Frequent (79-30%),TAS,,,,[PMID:8867654],y,y +GARD:0004838,Orphanet,2867,ORPHA:2867,10,HP:0000256,Macrocephaly,Frequent (79-30%),TAS,,,,[PMID:8867654],y,y +GARD:0004838,Orphanet,2867,ORPHA:2867,10,HP:0000308,Microretrognathia,Frequent (79-30%),TAS,,,,[PMID:8867654],y,y +GARD:0004838,Orphanet,2867,ORPHA:2867,10,HP:0000325,Triangular face,Frequent (79-30%),TAS,,,,[PMID:8867654],y,y +GARD:0004838,Orphanet,2867,ORPHA:2867,10,HP:0000774,Narrow chest,Frequent (79-30%),TAS,,,,[PMID:8867654],y,y +GARD:0004838,Orphanet,2867,ORPHA:2867,10,HP:0001510,Growth delay,Very frequent (99-80%),TAS,,,,[PMID:8867654],y,y +GARD:0004838,Orphanet,2867,ORPHA:2867,10,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:8867654],y,y +GARD:0004838,Orphanet,2867,ORPHA:2867,10,HP:0002663,Delayed epiphyseal ossification,Frequent (79-30%),TAS,,,,[PMID:8867654],y,y +GARD:0004838,Orphanet,2867,ORPHA:2867,10,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,[PMID:8867654],y,y +GARD:0004838,Orphanet,2867,ORPHA:2867,10,HP:0100593,Calcification of cartilage,Frequent (79-30%),TAS,,,,[PMID:8867654],y,y +GARD:0004841,Orphanet,2866,ORPHA:2866,8,HP:0000407,Sensorineural hearing impairment,Frequent (79-30%),TAS,,,,,y,y +GARD:0004841,Orphanet,2866,ORPHA:2866,8,HP:0000501,Glaucoma,Frequent (79-30%),TAS,,,,,y,y +GARD:0004841,Orphanet,2866,ORPHA:2866,8,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004841,Orphanet,2866,ORPHA:2866,8,HP:0002300,Mutism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004841,Orphanet,2866,ORPHA:2866,8,HP:0002664,Neoplasm,Occasional (29-5%),TAS,,,,,y,y +GARD:0004841,Orphanet,2866,ORPHA:2866,8,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0004841,Orphanet,2866,ORPHA:2866,8,HP:0004397,Ectopic anus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004841,Orphanet,2866,ORPHA:2866,8,HP:0010978,Abnormality of immune system physiology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0000028,Cryptorchidism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0000187,Broad alveolar ridges,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0000218,High palate,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0000288,Abnormality of the philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0000437,Depressed nasal tip,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0000527,Long eyelashes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0000684,Delayed eruption of teeth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0000830,Anterior hypopituitarism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0001257,Spasticity,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0001643,Patent ductus arteriosus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0001651,Dextrocardia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0002023,Anal atresia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0002645,Wormian bones,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0007477,Abnormal dermatoglyphics,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0008678,Renal hypoplasia/aplasia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0009804,Tooth agenesis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0012854,Midshaft hypospadias,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0100490,Camptodactyly of finger,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004856,Orphanet,2863,ORPHA:2863,25,HP:0100543,Cognitive impairment,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000028,Cryptorchidism,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000252,Microcephaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000268,Dolichocephaly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000278,Retrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000327,Hypoplasia of the maxilla,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000348,High forehead,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000358,Posteriorly rotated ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000405,Conductive hearing impairment,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000411,Protruding ear,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000486,Strabismus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000494,Downslanted palpebral fissures,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000508,Ptosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000520,Proptosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000545,Myopia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000767,Pectus excavatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000768,Pectus carinatum,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000774,Narrow chest,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000921,Missing ribs,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000944,Abnormality of the metaphysis,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0000974,Hyperextensible skin,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0001166,Arachnodactyly,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0001252,Hypotonia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0001334,Communicating hydrocephalus,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0001363,Craniosynostosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0001387,Joint stiffness,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0001508,Failure to thrive,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0001537,Umbilical hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0001634,Mitral valve prolapse,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0001646,Abnormal aortic valve morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0001653,Mitral regurgitation,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0001763,Pes planus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0002007,Frontal bossing,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0002020,Gastroesophageal reflux,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0002104,Apnea,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0002119,Ventriculomegaly,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0002308,Chiari malformation,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0002857,Genu valgum,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0003042,Elbow dislocation,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0003312,Abnormal form of the vertebral bodies,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0005692,Joint hyperflexibility,Frequent (79-30%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0006487,Bowing of the long bones,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature,Occasional (29-5%),TAS,,,,,y,y +GARD:0004861,Orphanet,2462,ORPHA:2462,53,HP:0100490,Camptodactyly of finger,Frequent (79-30%),TAS,,,,,y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000155,Oral ulcer,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000246,Sinusitis,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000356,Abnormality of the outer ear,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000365,Hearing impairment,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000670,Carious teeth,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000684,Delayed eruption of teeth,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000708,Behavioral abnormality,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000736,Short attention span,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000819,Diabetes mellitus,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000824,Decreased response to growth hormone stimulation test,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000886,Deformed rib cage,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000924,Abnormality of the skeletal system,Very frequent (99-80%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000938,Osteopenia,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000964,Eczema,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0000988,Skin rash,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001167,Abnormality of finger,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001249,Intellectual disability,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001367,Abnormal joint morphology,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001508,Failure to thrive,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001510,Growth delay,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001627,Abnormal heart morphology,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001738,Exocrine pancreatic insufficiency,Very frequent (99-80%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001871,Abnormality of blood and blood-forming tissues,Very frequent (99-80%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001873,Thrombocytopenia,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001875,Neutropenia,Very frequent (99-80%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001876,Pancytopenia,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001882,Leukopenia,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001897,Normocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001903,Anemia,Very frequent (99-80%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001909,Leukemia,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001915,Aplastic anemia,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0001972,Macrocytic anemia,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0002090,Pneumonia,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0002240,Hepatomegaly,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0002570,Steatorrhea,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0002594,Pancreatic hypoplasia,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0002630,Fat malabsorption,Very frequent (99-80%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0002718,Recurrent bacterial infections,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0002721,Immunodeficiency,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0002754,Osteomyelitis,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0002863,Myelodysplasia,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0002910,Elevated hepatic transaminase,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0002953,Vertebral compression fracture,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0003016,Metaphyseal widening,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0003025,Metaphyseal irregularity,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0004395,Malnutrition,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0004429,Recurrent viral infections,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0004808,Acute myeloid leukemia,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0004905,Low levels of vitamin A,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0005518,Increased mean corpuscular volume,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0005528,Bone marrow hypocellularity,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0005871,Metaphyseal chondrodysplasia,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0006461,Proximal femoral epiphysiolysis,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0008064,Ichthyosis,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0011024,Abnormality of the gastrointestinal tract,Very frequent (99-80%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0011892,Low levels of vitamin K,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0012202,Increased serum bile acid concentration,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0040075,Hypopituitarism,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0040238,Impaired neutrophil chemotaxis,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0045027,Abnormality of the thoracic cavity,Occasional (29-5%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0100512,Low levels of vitamin D,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0100513,Low levels of vitamin E,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0100806,Sepsis,Very rare (<4-1%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0410252,Chronic neutropenia,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0410255,Transient neutropenia,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004863,Orphanet,811,ORPHA:811,69,HP:0410289,Hypoamylasemia,Frequent (79-30%),TAS,,,,"[PMID:20301722, PMID:29939643]",y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0000219,Thin upper lip vermilion,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0000280,Coarse facial features,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0000286,Epicanthus,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0000316,Hypertelorism,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0000319,Smooth philtrum,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0000629,Periorbital fullness,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0000943,Dysostosis multiplex,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0001081,Cholelithiasis,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0001250,Seizure,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0001256,"Intellectual disability, mild",Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0001263,Global developmental delay,Occasional (29-5%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0001290,Generalized hypotonia,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0001382,Joint hypermobility,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0001433,Hepatosplenomegaly,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0001609,Hoarse voice,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0001847,Long hallux,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0001939,Abnormality of metabolism/homeostasis,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0001999,Abnormal facial shape,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0002240,Hepatomegaly,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0002354,Memory impairment,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0002474,Expressive language delay,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0002487,Hyperkinetic movements,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0002574,Episodic abdominal pain,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0002781,Upper airway obstruction,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0002910,Elevated hepatic transaminase,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0003645,Prolonged partial thromboplastin time,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0004691,2-3 toe syndactyly,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0007018,Attention deficit hyperactivity disorder,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0008151,Prolonged prothrombin time,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0008443,Spinal deformities,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0010535,Sleep apnea,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004865,Orphanet,3166,ORPHA:3166,36,HP:0012103,Abnormality of the mitochondrion,Very frequent (99-80%),TAS,,,,[PMID:11486897],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0000286,Epicanthus,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0000300,Oval face,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0000926,Platyspondyly,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0001156,Brachydactyly,Very frequent (99-80%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0001533,Slender build,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0001597,Abnormality of the nail,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0001761,Pes cavus,Very frequent (99-80%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0001782,Bulbous tips of toes,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0001783,Broad metatarsal,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0001840,Metatarsus adductus,Frequent (79-30%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0003180,Flat acetabular roof,Frequent (79-30%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0003418,Back pain,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0003468,Abnormal vertebral morphology,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0004679,Large tarsal bones,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0005819,Short middle phalanx of finger,Frequent (79-30%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0006170,Chess-pawn distal phalanges,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0008419,Intervertebral disc degeneration,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0008818,Large iliac wing,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0009381,Short finger,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0009832,Abnormal distal phalanx morphology of finger,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0009834,Abnormal proximal phalanx morphology of the hand,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0010052,Abnormal morphology of the proximal phalanx of the hallux,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0010239,Aplasia of the middle phalanx of the hand,Frequent (79-30%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0011304,Broad thumb,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004869,Orphanet,3168,ORPHA:3168,26,HP:0012385,Camptodactyly,Occasional (29-5%),TAS,,,,[PMID:671485],y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000032,Abnormality of male external genitalia,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000047,Hypospadias,Occasional (29-5%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000079,Abnormality of the urinary system,Occasional (29-5%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000142,Abnormal vagina morphology,Occasional (29-5%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000233,Thin vermilion border,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000270,Delayed cranial suture closure,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000325,Triangular face,Very frequent (99-80%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000347,Micrognathia,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000369,Low-set ears,Very frequent (99-80%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000592,Blue sclerae,Very frequent (99-80%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000678,Dental crowding,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000729,Autistic behavior,Occasional (29-5%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000826,Precocious puberty,Occasional (29-5%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000855,Insulin resistance,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000957,Cafe-au-lait spot,Occasional (29-5%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0000975,Hyperhidrosis,Occasional (29-5%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0001256,"Intellectual disability, mild",Occasional (29-5%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0001270,Motor delay,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0001511,Intrauterine growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0001513,Obesity,Occasional (29-5%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0001531,Failure to thrive in infancy,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0001620,High pitched voice,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0001622,Premature birth,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0001626,Abnormality of the cardiovascular system,Occasional (29-5%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0001852,Sandal gap,Occasional (29-5%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0001988,Recurrent hypoglycemia,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0002020,Gastroesophageal reflux,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0002360,Sleep disturbance,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0002650,Scoliosis,Occasional (29-5%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0002714,Downturned corners of mouth,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0002750,Delayed skeletal maturation,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0002829,Arthralgia,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0003199,Decreased muscle mass,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0004209,Clinodactyly of the 5th finger,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0004322,Short stature,Very frequent (99-80%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0004326,Cachexia,Very frequent (99-80%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0004482,Relative macrocephaly,Very frequent (99-80%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0005484,Secondary microcephaly,Occasional (29-5%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0008364,Abnormality of the calcaneus,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0008734,Decreased testicular size,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0008897,Postnatal growth retardation,Very frequent (99-80%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0008935,Generalized neonatal hypotonia,Occasional (29-5%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0010782,Shoulder dimple,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0011220,Prominent forehead,Very frequent (99-80%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0011844,Abnormal appendicular skeleton morphology,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0011968,Feeding difficulties,Very frequent (99-80%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0012412,Premature adrenarche,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0100555,Asymmetric growth,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0100559,Lower limb asymmetry,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004870,Orphanet,813,ORPHA:813,53,HP:0100560,Upper limb asymmetry,Frequent (79-30%),TAS,,,,"[PMID:17504900, PMID:24891339, PMID:25951829, PMID:27585961]",y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0002553,Highly arched eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0002650,Scoliosis,Frequent (79-30%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0002705,"High, narrow palate",Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0002714,Downturned corners of mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0003189,Long nose,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0009738,Abnormal antihelix morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0009896,Abnormal antitragus morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0009906,Aplasia/Hypoplasia of the earlobes,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0009912,Abnormal tragus morphology,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0010669,Hypoplasia of the zygomatic bone,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0010751,Dimple chin,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0011830,Abnormal oral mucosa morphology,Occasional (29-5%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0012368,Flat face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0045075,Sparse eyebrow,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0100490,Camptodactyly of finger,Occasional (29-5%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000023,Inguinal hernia,Frequent (79-30%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000028,Cryptorchidism,Frequent (79-30%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000046,Small scrotum,Frequent (79-30%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000160,Narrow mouth,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000272,Malar flattening,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000276,Long face,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000337,Broad forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000343,Long philtrum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000347,Micrognathia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000348,High forehead,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000368,"Low-set, posteriorly rotated ears",Frequent (79-30%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000400,Macrotia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000430,Underdeveloped nasal alae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000431,Wide nasal bridge,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000506,Telecanthus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0000581,Blepharophimosis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004873,Orphanet,1968,ORPHA:1968,32,HP:0001611,Nasal speech,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0000463,Anteverted nares,Occasional (29-5%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0000505,Visual impairment,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0000587,Abnormality of the optic nerve,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0000666,Horizontal nystagmus,Occasional (29-5%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0001249,Intellectual disability,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0001258,Spastic paraplegia,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0001288,Gait disturbance,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0001337,Tremor,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0001347,Hyperreflexia,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0002059,Cerebral atrophy,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0002062,Morphological abnormality of the pyramidal tract,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0002079,Hypoplasia of the corpus callosum,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0002352,Leukoencephalopathy,Very frequent (99-80%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0003020,Enlargement of the wrists,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0003487,Babinski sign,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0004349,Reduced bone mineral density,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0005280,Depressed nasal bridge,Occasional (29-5%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0005871,Metaphyseal chondrodysplasia,Very frequent (99-80%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0011800,Midface retrusion,Occasional (29-5%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0012747,Abnormal brainstem MRI signal intensity,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0030051,Tip-toe gait,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0030866,Large knee,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004891,Orphanet,83629,ORPHA:83629,23,HP:0100707,Abnormal astrocyte morphology,Frequent (79-30%),TAS,,,,[PMID:16924009],y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0000046,Small scrotum,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0000135,Hypogonadism,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0000144,Decreased fertility,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0000470,Short neck,Frequent (79-30%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0000708,Behavioral abnormality,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0000771,Gynecomastia,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0000772,Abnormal rib morphology,Frequent (79-30%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0000820,Abnormality of the thyroid gland,Frequent (79-30%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0001249,Intellectual disability,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0001513,Obesity,Frequent (79-30%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0002231,Sparse body hair,Frequent (79-30%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0002937,Hemivertebrae,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0003312,Abnormal form of the vertebral bodies,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0003782,Eunuchoid habitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0004322,Short stature,Frequent (79-30%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0005978,Type II diabetes mellitus,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0008734,Decreased testicular size,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0008736,Hypoplasia of penis,Very frequent (99-80%),TAS,,,,,y,y +GARD:0004899,Orphanet,2234,ORPHA:2234,19,HP:0100745,Abnormality of the humeroulnar joint,Frequent (79-30%),TAS,,,,,y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0000819,Diabetes mellitus,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0000820,Abnormality of the thyroid gland,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0000837,Increased circulating gonadotropin level,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0000845,Elevated circulating growth hormone concentration,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0000870,Increased circulating prolactin concentration,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0001031,Subcutaneous lipoma,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0001046,Intermittent jaundice,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0001406,Intrahepatic cholestasis,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0001438,Abnormal abdomen morphology,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0001541,Ascites,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0001824,Weight loss,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0002014,Diarrhea,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0002017,Nausea and vomiting,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0002019,Constipation,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0002039,Anorexia,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0002239,Gastrointestinal hemorrhage,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0002240,Hepatomegaly,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0002570,Steatorrhea,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0002574,Episodic abdominal pain,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0002865,Medullary thyroid carcinoma,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0002893,Pituitary adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0002894,Neoplasm of the pancreas,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0002897,Parathyroid adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0003072,Hypercalcemia,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0003118,Increased circulating cortisol level,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0004396,Poor appetite,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0004840,Hypochromic microcytic anemia,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0005214,Intestinal obstruction,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0005609,Gallbladder dysfunction,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0008200,Primary hyperparathyroidism,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0008256,Adrenocortical adenoma,Very rare (<4-1%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0012334,Extrahepatic cholestasis,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0012432,Chronic fatigue,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0030145,Lack of bowel sounds,Occasional (29-5%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y +GARD:0004900,Orphanet,97283,ORPHA:97283,35,HP:0100833,Neoplasm of the small intestine,Frequent (79-30%),TAS,,,,"[PMID:10940685, PMID:11340706, PMID:17645474, PMID:18798544, PMID:18941127, PMID:22052063, PMID:22261872, PMID:22997445, PMID:23582916, PMID:2440390, PMID:26742109]",y,y diff --git a/RDAS.GARD/src/GARD_xrefs.csv b/RDAS.GARD/src/GARD_xrefs.csv new file mode 100644 index 0000000..a907a0a --- /dev/null +++ b/RDAS.GARD/src/GARD_xrefs.csv @@ -0,0 +1,49975 @@ +GardID,XrefSource,SourceID,MapRelationship +GARD:0000001,Orphanet,53693,Exact +GARD:0000001,ICD-10,E88.8,NTBT +GARD:0000001,OMIM,603358,Exact +GARD:0000001,UMLS,C1864002,Exact +GARD:0000001,MeSH,C537934,Exact +GARD:0000001,SNOMED-CT,703388005,NA +GARD:0000003,SNOMED-CT,718575002,NA +GARD:0000003,Orphanet,920,Exact +GARD:0000003,ICD-10,Q87.0,NTBT +GARD:0000003,MeSH,C535557,Exact +GARD:0000003,UMLS,C1860224,Exact +GARD:0000003,OMIM,200110,Exact +GARD:0000005,Orphanet,14,Exact +GARD:0000005,ICD-10,E78.6,NTBT +GARD:0000005,SNOMED-CT,190787008,NA +GARD:0000005,UMLS,C0000744,Exact +GARD:0000005,OMIM,615558,BTNT +GARD:0000005,OMIM,200100,BTNT +GARD:0000005,MeSH,D000012,Exact +GARD:0000005,OMIM,605019,BTNT +GARD:0000006,Orphanet,93437,Exact +GARD:0000006,ICD-11,LD24.9,Exact +GARD:0000006,MeSH,C535658,Exact +GARD:0000006,UMLS,C0265278,Exact +GARD:0000007,Orphanet,969,Exact +GARD:0000007,OMIM,102370,Exact +GARD:0000007,UMLS,C0265287,Exact +GARD:0000007,MeSH,C535662,Exact +GARD:0000007,ICD-10,Q77.8,NTBT +GARD:0000007,SNOMED-CT,254090007,NA +GARD:0000011,Orphanet,2131,Exact +GARD:0000011,ICD-10,G98,NTBT +GARD:0000011,MeSH,C536589,Exact +GARD:0000011,OMIM,614820,BTNT +GARD:0000011,UMLS,C0338488,Exact +GARD:0000011,SNOMED-CT,230466004,NA +GARD:0000011,OMIM,104290,BTNT +GARD:0000012,Orphanet,31740,Exact +GARD:0000012,ICD-10,J67.6,BTNT +GARD:0000012,ICD-10,J67.1,BTNT +GARD:0000012,ICD-10,J67.0,BTNT +GARD:0000012,MedDRA,10001890,Exact +GARD:0000012,ICD-10,J67.8,BTNT +GARD:0000012,ICD-10,J67.4,BTNT +GARD:0000012,ICD-10,J67.2,BTNT +GARD:0000012,UMLS,C0002390,Exact +GARD:0000012,ICD-10,J67.7,BTNT +GARD:0000012,ICD-10,J67.9,BTNT +GARD:0000012,SNOMED-CT,37471005,NA +GARD:0000012,ICD-10,J67.5,BTNT +GARD:0000012,MeSH,D000542,Exact +GARD:0000012,ICD-10,J67.3,BTNT +GARD:0000013,Orphanet,1065,Exact +GARD:0000013,ICD-10,G11.0,NTBT +GARD:0000013,UMLS,C0431401,Exact +GARD:0000013,OMIM,206700,Exact +GARD:0000013,SNOMED-CT,253176002,NA +GARD:0000016,Orphanet,1125,Exact +GARD:0000016,UMLS,C0543874,Exact +GARD:0000016,ICD-10,H51.8,NTBT +GARD:0000016,MeSH,C537423,Exact +GARD:0000016,OMIM,257550,Exact +GARD:0000016,SNOMED-CT,405809000,NA +GARD:0000017,Orphanet,2356,Exact +GARD:0000017,MedDRA,10049005,Exact +GARD:0000017,MeSH,D016080,Exact +GARD:0000017,OMIM,207790,Exact +GARD:0000017,ICD-10,G93.0,NTBT +GARD:0000017,OMIM,182990,BTNT +GARD:0000017,UMLS,C0078981,Exact +GARD:0000017,SNOMED-CT,33595009,NA +GARD:0000019,Orphanet,1675,Exact +GARD:0000019,MeSH,D054067,Exact +GARD:0000019,MedDRA,10052622,Exact +GARD:0000019,ICD-10,E79.8,NTBT +GARD:0000019,OMIM,274270,Exact +GARD:0000019,UMLS,C1959620,Exact +GARD:0000019,SNOMED-CT,77365006,NA +GARD:0000022,Orphanet,123,Exact +GARD:0000022,ICD-10,E88.8,NTBT +GARD:0000022,OMIM,262000,Exact +GARD:0000022,UMLS,C0266006,Exact +GARD:0000022,MeSH,C537633,Exact +GARD:0000022,SNOMED-CT,67817003,NA +GARD:0000023,Orphanet,126,Exact +GARD:0000023,ICD-10,Q10.3,NTBT +GARD:0000023,UMLS,C0220663,Exact +GARD:0000023,OMIM,110100,Exact +GARD:0000023,SNOMED-CT,715391004,NA +GARD:0000026,Orphanet,195,Exact +GARD:0000026,OMIM,115470,Exact +GARD:0000026,UMLS,C0265493,Exact +GARD:0000026,ICD-10,Q92.8,NTBT +GARD:0000026,MeSH,C535918,Exact +GARD:0000026,SNOMED-CT,26445008,NA +GARD:0000027,SNOMED-CT,79974007,NA +GARD:0000027,Orphanet,50839,Exact +GARD:0000027,MedDRA,10007729,Exact +GARD:0000027,UMLS,C0238909,Exact +GARD:0000027,ICD-11,1B98,Exact +GARD:0000027,MeSH,D002372,Exact +GARD:0000027,UMLS,C0007361,Exact +GARD:0000027,ICD-10,A28.1,Exact +GARD:0000028,Orphanet,1388,Exact +GARD:0000028,ICD-10,Q87.8,NTBT +GARD:0000028,OMIM,302380,ND (not yet decided/unable to decide) +GARD:0000028,MeSH,C535347,Exact +GARD:0000028,OMIM,616145,Exact +GARD:0000028,UMLS,C1844887,Exact +GARD:0000028,SNOMED-CT,722383001,NA +GARD:0000029,Orphanet,138,Exact +GARD:0000029,UMLS,C0265354,Exact +GARD:0000029,OMIM,214800,Exact +GARD:0000029,MedDRA,10064063,Exact +GARD:0000029,MeSH,D058747,Exact +GARD:0000029,ICD-10,Q87.8,NTBT +GARD:0000029,SNOMED-CT,47535005,NA +GARD:0000031,Orphanet,35686,Exact +GARD:0000031,UMLS,C0729842,Exact +GARD:0000031,ICD-10,H30.8,NTBT +GARD:0000031,SNOMED-CT,312491004,NA +GARD:0000035,Orphanet,3307,Exact +GARD:0000035,UMLS,C0795868,Exact +GARD:0000035,SNOMED-CT,698849002,NA +GARD:0000035,OMIM,614290,Exact +GARD:0000035,ICD-10,Q99.8,NTBT +GARD:0000037,Orphanet,261875,Exact +GARD:0000037,ICD-11,LD44.31,Exact +GARD:0000037,ICD-10,Q93.5,NTBT +GARD:0000039,SNOMED-CT,719019000,NA +GARD:0000039,Orphanet,3466,Exact +GARD:0000039,OMIM,194350,Exact +GARD:0000039,MeSH,C536751,Exact +GARD:0000039,ICD-10,D61.0,NTBT +GARD:0000039,UMLS,C1327917,Exact +GARD:0000042,Orphanet,3310,Exact +GARD:0000042,SNOMED-CT,715530004,NA +GARD:0000042,ICD-10,Q99.8,NTBT +GARD:0000042,UMLS,C0795832,Exact +GARD:0000042,MeSH,C538027,Exact +GARD:0000043,Orphanet,99776,Exact +GARD:0000043,UMLS,C2930908,Exact +GARD:0000043,MeSH,C535454,Exact +GARD:0000043,ICD-10,Q92.1,NTBT +GARD:0000043,SNOMED-CT,764989007,NA +GARD:0000044,Orphanet,2342,Exact +GARD:0000044,ICD-10,Q82.8,NTBT +GARD:0000044,MeSH,C537627,Exact +GARD:0000044,UMLS,C1855627,Exact +GARD:0000044,OMIM,245010,Exact +GARD:0000044,SNOMED-CT,719973009,NA +GARD:0000045,Orphanet,291,Exact +GARD:0000045,ICD-10,P35.8,Exact +GARD:0000045,ICD-11,KA62.2,Exact +GARD:0000045,SNOMED-CT,715223009,NA +GARD:0000047,SNOMED-CT,8933000,NA +GARD:0000047,Orphanet,79234,Exact +GARD:0000047,MedDRA,10057034,Exact +GARD:0000047,OMIM,218800,Exact +GARD:0000047,UMLS,C0010324,Exact +GARD:0000047,UMLS,C2931131,Exact +GARD:0000047,MeSH,C536212,Exact +GARD:0000047,ICD-10,E80.5,NTBT +GARD:0000048,Orphanet,254905,Exact +GARD:0000048,OMIM,619048,BTNT +GARD:0000048,OMIM,619063,BTNT +GARD:0000048,OMIM,619062,BTNT +GARD:0000048,OMIM,619059,BTNT +GARD:0000048,UMLS,C0268237,Exact +GARD:0000048,OMIM,619061,BTNT +GARD:0000048,OMIM,619064,BTNT +GARD:0000048,OMIM,619055,BTNT +GARD:0000048,OMIM,220110,BTNT +GARD:0000048,OMIM,619053,BTNT +GARD:0000048,OMIM,619058,BTNT +GARD:0000048,OMIM,619052,BTNT +GARD:0000048,OMIM,619051,BTNT +GARD:0000048,OMIM,619355,BTNT +GARD:0000048,OMIM,619060,BTNT +GARD:0000048,OMIM,619054,BTNT +GARD:0000048,OMIM,619046,BTNT +GARD:0000048,ICD-10,E88.8,NTBT +GARD:0000049,Orphanet,2962,Exact +GARD:0000049,OMIM,219150,BTNT +GARD:0000049,UMLS,C0268354,Exact +GARD:0000049,MeSH,C535990,Exact +GARD:0000049,OMIM,614438,BTNT +GARD:0000049,ICD-10,Q87.8,NTBT +GARD:0000049,SNOMED-CT,59252009,NA +GARD:0000054,SNOMED-CT,51118003,NA +GARD:0000054,Orphanet,1203,Exact +GARD:0000054,MeSH,C535720,Exact +GARD:0000054,UMLS,C0266174,Exact +GARD:0000054,MedDRA,10013812,Exact +GARD:0000054,ICD-10,Q41.0,NTBT +GARD:0000054,OMIM,223400,Exact +GARD:0000059,Orphanet,1955,Exact +GARD:0000059,MeSH,C535738,Exact +GARD:0000059,OMIM,133190,Exact +GARD:0000059,UMLS,C2930921,Exact +GARD:0000059,UMLS,C1851481,Exact +GARD:0000059,MeSH,C535514,Exact +GARD:0000059,ICD-10,G11.1,NTBT +GARD:0000059,SNOMED-CT,719255000,NA +GARD:0000060,Orphanet,64734,Exact +GARD:0000060,MedDRA,10053678,Exact +GARD:0000060,MeSH,D057129,Exact +GARD:0000060,UMLS,C1096100,Exact +GARD:0000060,ICD-10,H21.1,NTBT +GARD:0000060,SNOMED-CT,129623003,NA +GARD:0000060,UMLS,C0339285,Exact +GARD:0000061,SNOMED-CT,13280000,NA +GARD:0000061,Orphanet,1988,Exact +GARD:0000061,MeSH,C537916,Exact +GARD:0000061,UMLS,C0265263,Exact +GARD:0000061,OMIM,134780,Exact +GARD:0000061,ICD-10,Q87.8,NTBT +GARD:0000062,Orphanet,3255,Exact +GARD:0000062,UMLS,C0795940,Exact +GARD:0000062,MeSH,C538152,Exact +GARD:0000062,SNOMED-CT,720954000,NA +GARD:0000062,ICD-10,Q87.8,NTBT +GARD:0000062,OMIM,272440,Exact +GARD:0000064,Orphanet,3219,Exact +GARD:0000064,MeSH,C537270,Exact +GARD:0000064,OMIM,229120,Exact +GARD:0000064,ICD-10,Q87.8,NTBT +GARD:0000064,UMLS,C0795944,Exact +GARD:0000064,SNOMED-CT,720957007,NA +GARD:0000065,Orphanet,2065,Exact +GARD:0000065,OMIM,301006,BTNT +GARD:0000065,OMIM,618348,BTNT +GARD:0000065,OMIM,618347,BTNT +GARD:0000065,ICD-10,Q04.3,NTBT +GARD:0000065,OMIM,617731,BTNT +GARD:0000065,OMIM,617730,BTNT +GARD:0000065,UMLS,C0795949,Exact +GARD:0000065,OMIM,618349,BTNT +GARD:0000065,OMIM,617729,BTNT +GARD:0000065,OMIM,251300,BTNT +GARD:0000065,MeSH,C537548,Exact +GARD:0000065,SNOMED-CT,721297008,NA +GARD:0000066,Orphanet,2095,Exact +GARD:0000066,ICD-10,Q87.0,Exact +GARD:0000066,OMIM,612289,Exact +GARD:0000066,UMLS,C0345382,Exact +GARD:0000066,MeSH,C537290,Exact +GARD:0000066,SNOMED-CT,205800003,NA +GARD:0000068,Orphanet,989,Exact +GARD:0000068,UMLS,C1863203,Exact +GARD:0000068,OMIM,103300,Exact +GARD:0000068,ICD-10,Q87.2,NTBT +GARD:0000068,UMLS,C0595985,Exact +GARD:0000068,SNOMED-CT,35031005,NA +GARD:0000069,Orphanet,319247,Exact +GARD:0000069,ICD-10,J17.1*,Exact +GARD:0000069,ICD-11,1D62.1,Exact +GARD:0000069,ICD-10,B33.4+,Exact +GARD:0000069,UMLS,C0243025,Exact +GARD:0000069,MedDRA,10019143,Exact +GARD:0000069,SNOMED-CT,120639003,NA +GARD:0000070,Orphanet,2330,Exact +GARD:0000070,MedDRA,10058423,Exact +GARD:0000070,UMLS,C0221025,Exact +GARD:0000070,ICD-10,D18.0,NTBT +GARD:0000070,OMIM,141000,Exact +GARD:0000070,SNOMED-CT,86635005,NA +GARD:0000073,Orphanet,101088,Exact +GARD:0000073,UMLS,C0398689,Exact +GARD:0000073,ICD-10,D80.5,NTBT +GARD:0000073,OMIM,308230,Exact +GARD:0000073,SNOMED-CT,403835002,NA +GARD:0000076,Orphanet,238468,Exact +GARD:0000076,ICD-11,LD27.02,Exact +GARD:0000076,UMLS,C0162359,Exact +GARD:0000076,OMIM,300291,BTNT +GARD:0000076,OMIM,612132,BTNT +GARD:0000076,OMIM,305100,BTNT +GARD:0000076,OMIM,614940,BTNT +GARD:0000076,OMIM,224900,BTNT +GARD:0000076,UMLS,C1706004,Exact +GARD:0000076,ICD-10,Q82.4,Exact +GARD:0000076,OMIM,614941,BTNT +GARD:0000076,UMLS,C0406702,Exact +GARD:0000076,OMIM,129490,BTNT +GARD:0000079,Orphanet,33067,Exact +GARD:0000079,UMLS,C0265295,Exact +GARD:0000079,ICD-10,Q78.5,NTBT +GARD:0000079,MeSH,C537564,Exact +GARD:0000079,OMIM,156400,Exact +GARD:0000079,SNOMED-CT,24629003,NA +GARD:0000080,SNOMED-CT,75979009,NA +GARD:0000080,Orphanet,2315,Exact +GARD:0000080,ICD-10,Q87.8,NTBT +GARD:0000080,UMLS,C0175692,Exact +GARD:0000080,OMIM,243800,Exact +GARD:0000080,MeSH,C535880,Exact +GARD:0000081,OMIM,309590,Exact +GARD:0000081,SNOMED-CT,721875000,NA +GARD:0000081,UMLS,C2678046,NA +GARD:0000081,DiseaseOntology,60811,NA +GARD:0000081,SNOMED-CT,725912001,NA +GARD:0000081,UMLS,C0796003,NA +GARD:0000082,SNOMED-CT,711156009,NA +GARD:0000082,Orphanet,2332,Exact +GARD:0000082,ICD-10,Q87.8,NTBT +GARD:0000082,UMLS,C0220687,Exact +GARD:0000082,OMIM,148050,Exact +GARD:0000082,MeSH,C537015,Exact +GARD:0000083,Orphanet,93325,Exact +GARD:0000083,OMIM,127000,Exact +GARD:0000083,ICD-10,Q87.1,NTBT +GARD:0000084,OMIM,608594,Exact +GARD:0000084,GeneticAlliance,1829,NA +GARD:0000084,DiseaseOntology,111135,NA +GARD:0000084,UMLS,C1720862,NA +GARD:0000085,Orphanet,2655,Exact +GARD:0000085,MedDRA,10049808,Exact +GARD:0000085,ICD-10,Q77.1,Exact +GARD:0000085,OMIM,187601,BTNT +GARD:0000085,UMLS,C0039743,Exact +GARD:0000085,OMIM,187600,BTNT +GARD:0000085,ICD-11,LD24.02,Exact +GARD:0000085,OMIM,156830,BTNT +GARD:0000085,SNOMED-CT,29352008,NA +GARD:0000086,SNOMED-CT,773610007,NA +GARD:0000086,Orphanet,314597,Exact +GARD:0000086,UMLS,C1858695,Exact +GARD:0000086,OMIM,604213,Exact +GARD:0000087,SNOMED-CT,438504004,NA +GARD:0000087,Orphanet,568,Exact +GARD:0000087,UMLS,C0796016,Exact +GARD:0000087,ICD-10,Q11.2,NTBT +GARD:0000087,OMIM,300166,NTBT +GARD:0000087,OMIM,309800,BTNT +GARD:0000088,Orphanet,2900,Exact +GARD:0000088,OMIM,151200,Exact +GARD:0000088,MeSH,C537118,Exact +GARD:0000088,ICD-10,Q68.8,NTBT +GARD:0000088,UMLS,C1835450,Exact +GARD:0000088,UMLS,C0265311,Exact +GARD:0000088,SNOMED-CT,41656005,NA +GARD:0000092,SNOMED-CT,239069005,NA +GARD:0000092,Orphanet,87503,Exact +GARD:0000092,UMLS,C0025221,Exact +GARD:0000092,ICD-10,Q82.8,NTBT +GARD:0000092,OMIM,248300,Exact +GARD:0000093,Orphanet,573,Exact +GARD:0000093,UMLS,C0546966,Exact +GARD:0000093,ICD-10,Q84.1,NTBT +GARD:0000093,MeSH,D056734,Exact +GARD:0000093,OMIM,158000,Exact +GARD:0000094,Orphanet,578,Exact +GARD:0000094,UMLS,C0238286,Exact +GARD:0000094,ICD-10,E75.1,NTBT +GARD:0000094,OMIM,252650,Exact +GARD:0000094,SNOMED-CT,725296006,NA +GARD:0000095,SNOMED-CT,81604003,NA +GARD:0000095,Orphanet,2576,Exact +GARD:0000095,OMIM,253250,Exact +GARD:0000095,MeSH,C538604,Exact +GARD:0000095,UMLS,C0524582,Exact +GARD:0000095,ICD-10,Q87.1,NTBT +GARD:0000095,MeSH,D050336,Exact +GARD:0000095,UMLS,C2931895,Exact +GARD:0000101,Orphanet,595,Exact +GARD:0000101,ICD-11,8C72.01,Exact +GARD:0000101,ICD-10,G71.2,NTBT +GARD:0000101,UMLS,C0175709,Exact +GARD:0000102,SNOMED-CT,77817004,NA +GARD:0000102,Orphanet,2671,Exact +GARD:0000102,ICD-10,Q87.8,NTBT +GARD:0000102,MeSH,C536405,Exact +GARD:0000102,UMLS,C0265218,Exact +GARD:0000102,OMIM,616038,BTNT +GARD:0000102,OMIM,256520,Exact +GARD:0000104,SNOMED-CT,236533008,NA +GARD:0000104,Orphanet,2704,Exact +GARD:0000104,ICD-10,N31.8,NTBT +GARD:0000104,UMLS,C0403555,Exact +GARD:0000104,OMIM,236730,Exact +GARD:0000104,OMIM,615112,BTNT +GARD:0000104,MeSH,C536480,Exact +GARD:0000105,Orphanet,2719,Exact +GARD:0000105,UMLS,C0268496,Exact +GARD:0000105,UMLS,C2936910,Exact +GARD:0000105,OMIM,257800,Exact +GARD:0000105,ICD-10,E70.3,NTBT +GARD:0000105,SNOMED-CT,17827007,NA +GARD:0000106,Orphanet,1647,Exact +GARD:0000106,OMIM,164180,Exact +GARD:0000106,SNOMED-CT,403554008,NA +GARD:0000106,MeSH,C538088,Exact +GARD:0000106,UMLS,C0796092,Exact +GARD:0000106,UMLS,C2931390,Exact +GARD:0000106,ICD-10,Q87.8,NTBT +GARD:0000108,Orphanet,206583,Exact +GARD:0000108,OMIM,263570,Exact +GARD:0000108,ICD-10,E74.0,NTBT +GARD:0000108,UMLS,C1849722,Exact +GARD:0000109,Orphanet,2762,Exact +GARD:0000109,UMLS,C0334041,Exact +GARD:0000109,ICD-10,M61.5,NTBT +GARD:0000109,ICD-11,FB31.0,Exact +GARD:0000109,OMIM,166350,Exact +GARD:0000109,MedDRA,10048902,Exact +GARD:0000109,SNOMED-CT,719271000,NA +GARD:0000111,Orphanet,60032,Exact +GARD:0000111,ICD-11,2F00.1,Exact +GARD:0000111,MeSH,C535297,Exact +GARD:0000111,UMLS,C1168198,Exact +GARD:0000111,MedDRA,10059314,Exact +GARD:0000111,SNOMED-CT,472827002,NA +GARD:0000112,Orphanet,70587,Exact +GARD:0000112,UMLS,C0852283,Exact +GARD:0000112,ICD-11,KB23.0,Exact +GARD:0000112,UMLS,C0035220,Exact +GARD:0000112,ICD-10,P22.0,Exact +GARD:0000112,OMIM,267450,Exact +GARD:0000112,UMLS,C0020192,Exact +GARD:0000112,SNOMED-CT,46775006,NA +GARD:0000114,SNOMED-CT,763460007,NA +GARD:0000114,Orphanet,99014,Exact +GARD:0000114,UMLS,C1839566,Exact +GARD:0000114,ICD-10,G60.0,NTBT +GARD:0000114,OMIM,311070,Exact +GARD:0000116,Orphanet,79279,Exact +GARD:0000116,OMIM,609241,Exact +GARD:0000116,ICD-10,E77.1,NTBT +GARD:0000116,UMLS,C1836544,Exact +GARD:0000117,SNOMED-CT,18899000,NA +GARD:0000117,Orphanet,798,Exact +GARD:0000117,UMLS,C0265227,Exact +GARD:0000117,ICD-10,Q87.0,NTBT +GARD:0000117,MedDRA,10063540,Exact +GARD:0000117,OMIM,269150,Exact +GARD:0000118,Orphanet,3138,Exact +GARD:0000118,ICD-10,Q71.8,NTBT +GARD:0000118,UMLS,C1866994,Exact +GARD:0000118,MeSH,C536937,Exact +GARD:0000118,OMIM,181450,Exact +GARD:0000118,SNOMED-CT,700211007,NA +GARD:0000121,Orphanet,1807,Exact +GARD:0000121,MeSH,C536385,Exact +GARD:0000121,OMIM,227260,Exact +GARD:0000121,UMLS,C1744559,Exact +GARD:0000121,ICD-10,Q82.8,NTBT +GARD:0000122,Orphanet,85191,Exact +GARD:0000122,OMIM,616298,BTNT +GARD:0000122,ICD-10,Q78.8,NTBT +GARD:0000122,UMLS,C0432254,Exact +GARD:0000122,OMIM,182250,Exact +GARD:0000122,SNOMED-CT,254114000,NA +GARD:0000125,Orphanet,38,Exact +GARD:0000125,UMLS,C0545044,Exact +GARD:0000125,OMIM,101850,Exact +GARD:0000125,MeSH,C535653,Exact +GARD:0000125,ICD-10,Q82.8,NTBT +GARD:0000125,SNOMED-CT,111029001,NA +GARD:0000127,SNOMED-CT,733606001,NA +GARD:0000127,Orphanet,3210,Exact +GARD:0000127,MeSH,C538142,Exact +GARD:0000127,OMIM,272350,Exact +GARD:0000127,UMLS,C1802405,Exact +GARD:0000127,ICD-10,Q82.0,NTBT +GARD:0000132,SNOMED-CT,733729003,NA +GARD:0000132,Orphanet,137807,Exact +GARD:0000132,MedDRA,10011659,Exact +GARD:0000132,ICD-10,E85.4+,Exact +GARD:0000132,UMLS,C0268397,Exact +GARD:0000132,ICD-10,L99.0*,Exact +GARD:0000134,Orphanet,93346,Exact +GARD:0000134,OMIM,184250,Exact +GARD:0000134,UMLS,C0700635,Exact +GARD:0000134,ICD-10,Q77.7,NTBT +GARD:0000134,SNOMED-CT,702350003,NA +GARD:0000139,SNOMED-CT,233855002,NA +GARD:0000139,Orphanet,615,Exact +GARD:0000139,MeSH,C538262,Exact +GARD:0000139,ICD-10,D15.1,NTBT +GARD:0000139,OMIM,255960,Exact +GARD:0000139,UMLS,C1850635,Exact +GARD:0000140,Orphanet,1201,Exact +GARD:0000140,UMLS,C0021828,Exact +GARD:0000140,UMLS,C0266172,Exact +GARD:0000140,ICD-10,Q41.1,BTNT +GARD:0000140,MeSH,C538260,Exact +GARD:0000140,ICD-10,Q41.2,BTNT +GARD:0000140,MedDRA,10010626,Exact +GARD:0000140,UMLS,C0266175,Exact +GARD:0000140,ICD-10,Q41.0,BTNT +GARD:0000140,ICD-10,Q41.9,BTNT +GARD:0000140,ICD-10,Q41.8,BTNT +GARD:0000140,OMIM,243600,Exact +GARD:0000140,SNOMED-CT,84296002,NA +GARD:0000143,Orphanet,2220,Exact +GARD:0000143,OMIM,139600,Exact +GARD:0000143,UMLS,C1841696,Exact +GARD:0000143,MedDRA,10068636,Exact +GARD:0000143,ICD-10,Q84.2,NTBT +GARD:0000143,SNOMED-CT,771181009,NA +GARD:0000144,Orphanet,2083,Exact +GARD:0000144,SNOMED-CT,716023007,NA +GARD:0000144,ICD-10,Q87.8,NTBT +GARD:0000144,OMIM,247990,Exact +GARD:0000144,UMLS,C0796024,Exact +GARD:0000155,SNOMED-CT,715440003,NA +GARD:0000155,Orphanet,2378,Exact +GARD:0000155,UMLS,C1851100,Exact +GARD:0000155,ICD-10,Q87.2,NTBT +GARD:0000155,OMIM,135750,Exact +GARD:0000155,MeSH,C535689,Exact +GARD:0000156,SNOMED-CT,277950001,NA +GARD:0000156,Orphanet,588,Exact +GARD:0000156,OMIM,613153,BTNT +GARD:0000156,OMIM,253280,BTNT +GARD:0000156,OMIM,613154,BTNT +GARD:0000156,OMIM,613150,BTNT +GARD:0000156,OMIM,615350,BTNT +GARD:0000156,OMIM,615181,BTNT +GARD:0000156,ICD-10,G71.0,NTBT +GARD:0000156,OMIM,236670,NTBT +GARD:0000156,OMIM,253800,BTNT +GARD:0000156,UMLS,C0457133,Exact +GARD:0000157,Orphanet,2155,Exact +GARD:0000157,OMIM,235740,Exact +GARD:0000157,SNOMED-CT,721221000,NA +GARD:0000157,UMLS,C2931452,Exact +GARD:0000157,ICD-10,Q43.1,NTBT +GARD:0000158,SNOMED-CT,64852002,NA +GARD:0000158,Orphanet,3129,Exact +GARD:0000158,ICD-10,E72.5,NTBT +GARD:0000158,MeSH,C537236,Exact +GARD:0000158,ICD-11,5C50.71,Exact +GARD:0000158,UMLS,C0268563,Exact +GARD:0000158,MedDRA,10059299,Exact +GARD:0000158,OMIM,268900,Exact +GARD:0000159,SNOMED-CT,721888002,NA +GARD:0000159,Orphanet,2036,Exact +GARD:0000159,OMIM,181270,Exact +GARD:0000159,UMLS,C1867020,Exact +GARD:0000159,MeSH,C536623,Exact +GARD:0000159,ICD-10,Q87.8,NTBT +GARD:0000160,Orphanet,3130,Exact +GARD:0000160,UMLS,C1833454,Exact +GARD:0000160,OMIM,600705,Exact +GARD:0000160,MeSH,C536616,Exact +GARD:0000160,ICD-10,M35.8,NTBT +GARD:0000160,MedDRA,10070579,Exact +GARD:0000160,SNOMED-CT,763630007,NA +GARD:0000162,Orphanet,2013,Exact +GARD:0000162,OMIM,181180,Exact +GARD:0000162,ICD-10,Q87.8,NTBT +GARD:0000162,UMLS,C1867023,Exact +GARD:0000162,SNOMED-CT,763130006,NA +GARD:0000166,SNOMED-CT,253159001,NA +GARD:0000166,Orphanet,799,Exact +GARD:0000166,OMIM,269160,Exact +GARD:0000166,UMLS,C0266484,Exact +GARD:0000166,ICD-11,LA05.61,Exact +GARD:0000166,ICD-10,Q04.6,NTBT +GARD:0000169,SNOMED-CT,254049009,NA +GARD:0000169,Orphanet,3144,Exact +GARD:0000169,MeSH,C536637,Exact +GARD:0000169,ICD-10,Q77.7,NTBT +GARD:0000169,OMIM,269250,Exact +GARD:0000169,UMLS,C0432194,Exact +GARD:0000172,Orphanet,2427,Exact +GARD:0000172,UMLS,C2931595,Exact +GARD:0000172,SNOMED-CT,722033000,NA +GARD:0000175,Orphanet,309324,Exact +GARD:0000175,ICD-10,E77.8,NTBT +GARD:0000175,UMLS,C1096902,Exact +GARD:0000175,OMIM,269920,Exact +GARD:0000175,UMLS,C1963905,Exact +GARD:0000175,MedDRA,10067532,Exact +GARD:0000175,SNOMED-CT,34566007,NA +GARD:0000176,Orphanet,592,Exact +GARD:0000176,UMLS,C2931639,Exact +GARD:0000176,ICD-10,M60.8,NTBT +GARD:0000176,MeSH,C537829,Exact +GARD:0000176,SNOMED-CT,718175009,NA +GARD:0000177,Orphanet,2432,Exact +GARD:0000177,ICD-10,Q87.0,NTBT +GARD:0000177,OMIM,248110,Exact +GARD:0000177,UMLS,C1855467,Exact +GARD:0000177,SNOMED-CT,773282001,NA +GARD:0000178,SNOMED-CT,724137002,NA +GARD:0000178,Orphanet,2563,Exact +GARD:0000178,OMIM,157980,Exact +GARD:0000178,UMLS,C1834759,Exact +GARD:0000178,ICD-10,Q87.3,NTBT +GARD:0000180,SNOMED-CT,712922002,NA +GARD:0000180,Orphanet,182050,Exact +GARD:0000180,OMIM,155100,Exact +GARD:0000180,OMIM,600208,BTNT +GARD:0000180,UMLS,C1854520,Exact +GARD:0000180,ICD-10,D69.4,NTBT +GARD:0000181,Orphanet,827,Exact +GARD:0000181,UMLS,C1855465,Exact +GARD:0000181,UMLS,C0271093,Exact +GARD:0000181,MedDRA,10062766,Exact +GARD:0000181,OMIM,600110,BTNT +GARD:0000181,OMIM,248200,Exact +GARD:0000181,OMIM,603786,BTNT +GARD:0000181,ICD-10,H35.5,NTBT +GARD:0000181,SNOMED-CT,70099003,NA +GARD:0000182,Orphanet,1243,Exact +GARD:0000182,ICD-10,H35.5,NTBT +GARD:0000182,UMLS,C2745945,Exact +GARD:0000182,UMLS,C0339510,Exact +GARD:0000182,OMIM,153700,Exact +GARD:0000182,SNOMED-CT,90036004,NA +GARD:0000184,SNOMED-CT,400211001,NA +GARD:0000184,Orphanet,662,Exact +GARD:0000184,OMIM,153300,Exact +GARD:0000184,ICD-10,L60.5,NTBT +GARD:0000184,UMLS,C0221348,Exact +GARD:0000184,MedDRA,10048244,Exact +GARD:0000184,ICD-11,EE11.1,Exact +GARD:0000192,SNOMED-CT,715989002,NA +GARD:0000192,Orphanet,1381,Exact +GARD:0000192,ICD-10,Q87.8,NTBT +GARD:0000192,UMLS,C2931391,Exact +GARD:0000193,Orphanet,2745,Exact +GARD:0000193,UMLS,C1801950,Exact +GARD:0000193,UMLS,C2936904,Exact +GARD:0000193,OMIM,300000,BTNT +GARD:0000193,OMIM,145410,BTNT +GARD:0000193,ICD-10,Q87.8,NTBT +GARD:0000193,SNOMED-CT,81771002,NA +GARD:0000194,Orphanet,2066,Exact +GARD:0000194,OMIM,613163,Exact +GARD:0000194,UMLS,C0342708,Exact +GARD:0000194,SNOMED-CT,237941007,NA +GARD:0000194,MeSH,C535407,Exact +GARD:0000194,ICD-10,E72.8,NTBT +GARD:0000195,Orphanet,682,Exact +GARD:0000195,UMLS,C0238357,Exact +GARD:0000195,UMLS,C2930895,Exact +GARD:0000195,OMIM,170500,Exact +GARD:0000195,ICD-10,G72.3,NTBT +GARD:0000195,MeSH,C535409,Exact +GARD:0000195,ICD-11,8C74.11,Exact +GARD:0000195,MeSH,D020513,Exact +GARD:0000195,SNOMED-CT,304737009,NA +GARD:0000198,Orphanet,83419,Exact +GARD:0000198,ICD-11,8B61.2,Exact +GARD:0000198,UMLS,C0152109,Exact +GARD:0000198,SNOMED-CT,54280009,NA +GARD:0000198,OMIM,253400,Exact +GARD:0000198,ICD-10,G12.1,NTBT +GARD:0000200,Orphanet,443079,Exact +GARD:0000200,UMLS,C0730328,Exact +GARD:0000200,ICD-10,H35.7,NTBT +GARD:0000200,SNOMED-CT,312956001,NA +GARD:0000201,Orphanet,1253,Exact +GARD:0000201,OMIM,109900,Exact +GARD:0000201,UMLS,C0339085,Exact +GARD:0000201,ICD-10,Q87.0,NTBT +GARD:0000201,SNOMED-CT,28599006,NA +GARD:0000206,Orphanet,655,Exact +GARD:0000206,OMIM,617271,BTNT +GARD:0000206,OMIM,602088,BTNT +GARD:0000206,OMIM,613820,BTNT +GARD:0000206,OMIM,615382,BTNT +GARD:0000206,OMIM,614377,BTNT +GARD:0000206,ICD-10,Q61.5,NTBT +GARD:0000206,OMIM,604387,BTNT +GARD:0000206,OMIM,615862,BTNT +GARD:0000206,OMIM,606966,BTNT +GARD:0000206,OMIM,611498,BTNT +GARD:0000206,UMLS,C0687120,Exact +GARD:0000206,OMIM,613824,BTNT +GARD:0000206,OMIM,256100,Exact +GARD:0000206,OMIM,613159,BTNT +GARD:0000206,SNOMED-CT,204958008,NA +GARD:0000207,Orphanet,284,Exact +GARD:0000207,ICD-10,B67.6,BTNT +GARD:0000207,ICD-10,B67.7,BTNT +GARD:0000207,MeSH,C536591,Exact +GARD:0000207,MedDRA,10053042,Exact +GARD:0000207,UMLS,C0948954,Exact +GARD:0000207,ICD-10,B67.5,BTNT +GARD:0000207,SNOMED-CT,21009004,NA +GARD:0000212,Orphanet,2709,Exact +GARD:0000212,MeSH,C537732,Exact +GARD:0000212,UMLS,C0796140,Exact +GARD:0000212,OMIM,180900,Exact +GARD:0000212,ICD-10,Q87.8,NTBT +GARD:0000212,SNOMED-CT,699754008,NA +GARD:0000213,Orphanet,1834,Exact +GARD:0000213,UMLS,C2931613,Exact +GARD:0000213,MeSH,C537790,Exact +GARD:0000213,ICD-10,Q87.8,NTBT +GARD:0000213,SNOMED-CT,765755006,NA +GARD:0000215,Orphanet,1768,Exact +GARD:0000215,SNOMED-CT,722493007,NA +GARD:0000215,UMLS,C2931053,Exact +GARD:0000215,ICD-10,Q87.8,NTBT +GARD:0000216,Orphanet,1323,Exact +GARD:0000216,OMIM,602612,Exact +GARD:0000216,ICD-10,Q87.0,NTBT +GARD:0000216,SNOMED-CT,715986009,NA +GARD:0000216,UMLS,C2931051,Exact +GARD:0000218,SNOMED-CT,32891000,NA +GARD:0000218,Orphanet,3111,Exact +GARD:0000218,OMIM,237450,Exact +GARD:0000218,MedDRA,10039234,Exact +GARD:0000218,ICD-10,E80.6,NTBT +GARD:0000218,UMLS,C0220991,Exact +GARD:0000220,SNOMED-CT,62377009,NA +GARD:0000220,Orphanet,563,Exact +GARD:0000220,UMLS,C0269972,Exact +GARD:0000220,ICD-10,O90.3,Exact +GARD:0000220,MedDRA,10049430,Exact +GARD:0000220,UMLS,C0877208,Exact +GARD:0000220,ICD-11,JB44.3,Exact +GARD:0000221,Orphanet,217604,Exact +GARD:0000221,MedDRA,10056370,Exact +GARD:0000221,MeSH,D002311,Exact +GARD:0000221,UMLS,C0007193,Exact +GARD:0000221,ICD-11,BC43.0,Exact +GARD:0000221,ICD-10,I42.0,Exact +GARD:0000223,Orphanet,252175,Exact +GARD:0000223,SNOMED-CT,126949007,NA +GARD:0000223,MedDRA,10000523,Exact +GARD:0000223,ICD-11,2A02.3,NTBT +GARD:0000223,UMLS,C0027859,Exact +GARD:0000223,ICD-10,D33.3,Exact +GARD:0000224,Orphanet,3015,Exact +GARD:0000224,OMIM,179280,Exact +GARD:0000224,MeSH,C536267,Exact +GARD:0000224,UMLS,C2931146,Exact +GARD:0000224,SNOMED-CT,766765009,NA +GARD:0000225,Orphanet,93321,Exact +GARD:0000225,ICD-10,Q71.4,Exact +GARD:0000225,ICD-11,LB99.2,Exact +GARD:0000225,SNOMED-CT,61900003,NA +GARD:0000226,SNOMED-CT,33559001,NA +GARD:0000226,Orphanet,769,Exact +GARD:0000226,UMLS,C0271695,Exact +GARD:0000226,OMIM,262190,Exact +GARD:0000226,MeSH,D056731,Exact +GARD:0000226,ICD-10,E13,NTBT +GARD:0000229,Orphanet,1532,Exact +GARD:0000229,ICD-10,Q07.8,NTBT +GARD:0000229,OMIM,601853,Exact +GARD:0000229,UMLS,C0795959,Exact +GARD:0000229,SNOMED-CT,722451006,NA +GARD:0000230,Orphanet,2533,Exact +GARD:0000230,OMIM,156620,Exact +GARD:0000230,SNOMED-CT,716112005,NA +GARD:0000230,UMLS,C0796062,Exact +GARD:0000230,ICD-10,Q87.8,NTBT +GARD:0000231,Orphanet,135,Exact +GARD:0000231,MeSH,C537420,Exact +GARD:0000231,UMLS,C2931489,Exact +GARD:0000231,UMLS,C1858991,Exact +GARD:0000231,OMIM,615889,BTNT +GARD:0000231,OMIM,603896,Exact +GARD:0000231,ICD-10,E75.2,NTBT +GARD:0000232,Orphanet,1309,Exact +GARD:0000232,ICD-10,Q61.5,NTBT +GARD:0000232,MedDRA,10027104,Exact +GARD:0000232,MeSH,D007691,Exact +GARD:0000232,UMLS,C0022681,Exact +GARD:0000232,ICD-11,LB30.8,Exact +GARD:0000232,SNOMED-CT,236443009,NA +GARD:0000234,SNOMED-CT,237980004,NA +GARD:0000234,Orphanet,941,Exact +GARD:0000234,OMIM,220120,Exact +GARD:0000234,MeSH,C535767,Exact +GARD:0000234,ICD-10,E74.8,NTBT +GARD:0000234,UMLS,C1291386,Exact +GARD:0000236,Orphanet,2186,Exact +GARD:0000236,ICD-10,Q87.8,NTBT +GARD:0000236,UMLS,C2931014,Exact +GARD:0000236,SNOMED-CT,773280009,NA +GARD:0000237,Orphanet,1563,Exact +GARD:0000237,OMIM,247410,Exact +GARD:0000237,UMLS,C1855477,Exact +GARD:0000237,MeSH,C535769,Exact +GARD:0000237,ICD-10,Q87.8,Exact +GARD:0000237,SNOMED-CT,721083007,NA +GARD:0000238,SNOMED-CT,716180009,NA +GARD:0000238,Orphanet,2724,Exact +GARD:0000238,OMIM,164330,Exact +GARD:0000238,UMLS,C1834013,Exact +GARD:0000239,SNOMED-CT,721903007,NA +GARD:0000239,Orphanet,3132,Exact +GARD:0000239,UMLS,C2931267,Exact +GARD:0000239,OMIM,251240,Exact +GARD:0000239,ICD-10,Q87.8,NTBT +GARD:0000239,MeSH,C536618,Exact +GARD:0000241,Orphanet,1003,Exact +GARD:0000241,OMIM,181250,Exact +GARD:0000241,ICD-10,Q87.2,NTBT +GARD:0000241,UMLS,C1867021,Exact +GARD:0000241,MeSH,C536622,Exact +GARD:0000241,SNOMED-CT,726629006,NA +GARD:0000243,Orphanet,3369,Exact +GARD:0000243,SNOMED-CT,733066002,NA +GARD:0000243,ICD-10,Q87.0,NTBT +GARD:0000243,UMLS,C1839125,Exact +GARD:0000243,OMIM,314320,Exact +GARD:0000246,Orphanet,63862,Exact +GARD:0000246,MeSH,C536633,Exact +GARD:0000246,UMLS,C2931271,Exact +GARD:0000246,ICD-10,Q87.8,NTBT +GARD:0000246,SNOMED-CT,718095000,NA +GARD:0000247,SNOMED-CT,734173003,NA +GARD:0000247,Orphanet,3134,Exact +GARD:0000247,OMIM,312830,Exact +GARD:0000247,UMLS,C1839321,Exact +GARD:0000247,ICD-10,Q82.8,NTBT +GARD:0000247,MeSH,C536625,Exact +GARD:0000248,Orphanet,1383,Exact +GARD:0000248,UMLS,C2931269,Exact +GARD:0000248,ICD-10,Q87.8,NTBT +GARD:0000248,SNOMED-CT,722378009,NA +GARD:0000249,OMIM,122860,Exact +GARD:0000249,DiseaseOntology,80807,NA +GARD:0000249,UMLS,C2675746,NA +GARD:0000250,Orphanet,800,Exact +GARD:0000250,UMLS,C0036391,Exact +GARD:0000250,ICD-11,8C71.1,Exact +GARD:0000250,OMIM,255800,Exact +GARD:0000250,ICD-10,G71.1,NTBT +GARD:0000250,ICD-10,Q78.8,NTBT +GARD:0000250,SNOMED-CT,29145002,NA +GARD:0000257,Orphanet,3041,Exact +GARD:0000257,ICD-10,Q87.8,NTBT +GARD:0000257,OMIM,300977,Exact +GARD:0000257,UMLS,C1866985,Exact +GARD:0000257,SNOMED-CT,722002002,NA +GARD:0000258,SNOMED-CT,716092007,NA +GARD:0000258,Orphanet,2252,Exact +GARD:0000258,OMIM,179250,Exact +GARD:0000258,ICD-10,Q87.2,NTBT +GARD:0000258,UMLS,C1867397,Exact +GARD:0000258,UMLS,C2931274,Exact +GARD:0000259,SNOMED-CT,716200002,NA +GARD:0000259,Orphanet,3145,Exact +GARD:0000259,ICD-10,N21.5,NTBT +GARD:0000259,UMLS,C2931070,Exact +GARD:0000259,OMIM,221995,Exact +GARD:0000262,Orphanet,644,Exact +GARD:0000262,ICD-11,8C73.1,Exact +GARD:0000262,OMIM,551500,Exact +GARD:0000262,ICD-10,E88.8,NTBT +GARD:0000262,MedDRA,10062940,Exact +GARD:0000262,UMLS,C1328349,Exact +GARD:0000264,SNOMED-CT,721975004,NA +GARD:0000264,Orphanet,1824,Exact +GARD:0000264,OMIM,226960,Exact +GARD:0000264,MeSH,C537038,Exact +GARD:0000264,ICD-10,Q87.5,NTBT +GARD:0000264,UMLS,C0796021,Exact +GARD:0000264,MedDRA,10062600,Exact +GARD:0000265,SNOMED-CT,277810000,NA +GARD:0000265,Orphanet,3351,Exact +GARD:0000265,UMLS,C0406724,Exact +GARD:0000265,MeSH,C536551,Exact +GARD:0000265,OMIM,601453,Exact +GARD:0000267,SNOMED-CT,763774001,NA +GARD:0000267,Orphanet,2662,Exact +GARD:0000267,UMLS,C1850627,Exact +GARD:0000267,OMIM,255980,Exact +GARD:0000267,ICD-10,Q87.0,NTBT +GARD:0000267,OMIM,301026,Exact +GARD:0000269,SNOMED-CT,722019000,NA +GARD:0000269,Orphanet,2307,Exact +GARD:0000269,UMLS,C1327918,Exact +GARD:0000269,OMIM,147750,Exact +GARD:0000269,ICD-10,Q71.8,NTBT +GARD:0000270,Orphanet,3051,Exact +GARD:0000270,OMIM,601358,Exact +GARD:0000270,UMLS,C1303073,Exact +GARD:0000270,SNOMED-CT,401046009,NA +GARD:0000272,Orphanet,3412,Exact +GARD:0000272,OMIM,314390,BTNT +GARD:0000272,ICD-10,Q87.8,NTBT +GARD:0000272,OMIM,276950,Exact +GARD:0000272,SNOMED-CT,719043002,NA +GARD:0000273,Orphanet,2834,Exact +GARD:0000273,OMIM,278250,Exact +GARD:0000273,SNOMED-CT,238875009,NA +GARD:0000273,MeSH,C536750,Exact +GARD:0000273,ICD-10,Q82.8,NTBT +GARD:0000273,UMLS,C0406587,Exact +GARD:0000274,Orphanet,2571,Exact +GARD:0000274,OMIM,300076,Exact +GARD:0000274,ICD-10,D82.8,NTBT +GARD:0000274,UMLS,C1848144,Exact +GARD:0000274,SNOMED-CT,719827008,NA +GARD:0000276,OMIM,614841,Exact +GARD:0000276,DiseaseOntology,90072,NA +GARD:0000276,UMLS,C1856897,NA +GARD:0000277,Orphanet,2892,Exact +GARD:0000277,OMIM,262020,Exact +GARD:0000277,UMLS,C1849805,Exact +GARD:0000277,SNOMED-CT,771240009,NA +GARD:0000280,Orphanet,1809,Exact +GARD:0000280,ICD-10,Q82.8,NTBT +GARD:0000280,UMLS,C2930953,Exact +GARD:0000280,SNOMED-CT,721147000,NA +GARD:0000282,Orphanet,1832,Exact +GARD:0000282,OMIM,259775,Exact +GARD:0000282,UMLS,C1850106,Exact +GARD:0000282,ICD-10,Q78.2,NTBT +GARD:0000284,SNOMED-CT,721978002,NA +GARD:0000284,Orphanet,86915,Exact +GARD:0000284,OMIM,601927,Exact +GARD:0000284,ICD-10,Q87.8,NTBT +GARD:0000284,UMLS,C2677167,Exact +GARD:0000287,SNOMED-CT,721835008,NA +GARD:0000287,Orphanet,2211,Exact +GARD:0000287,ICD-10,Q87.8,NTBT +GARD:0000287,OMIM,239710,Exact +GARD:0000287,UMLS,C1855904,Exact +GARD:0000288,Orphanet,2108,Exact +GARD:0000288,OMIM,234100,Exact +GARD:0000288,UMLS,C0018522,Exact +GARD:0000288,ICD-10,Q87.0,NTBT +GARD:0000288,SNOMED-CT,7903009,NA +GARD:0000290,Orphanet,2109,Exact +GARD:0000290,UMLS,C2931775,Exact +GARD:0000290,ICD-10,Q87.0,NTBT +GARD:0000292,SNOMED-CT,763404001,NA +GARD:0000292,Orphanet,2269,Exact +GARD:0000292,OMIM,242510,Exact +GARD:0000292,UMLS,C1855788,Exact +GARD:0000296,SNOMED-CT,721075001,NA +GARD:0000296,Orphanet,2832,Exact +GARD:0000296,ICD-10,Q87.2,NTBT +GARD:0000296,OMIM,600269,Exact +GARD:0000296,UMLS,C1838328,Exact +GARD:0000298,SNOMED-CT,721233005,NA +GARD:0000298,Orphanet,2410,Exact +GARD:0000298,OMIM,240950,Exact +GARD:0000298,UMLS,C1855859,Exact +GARD:0000298,ICD-10,E29.1,NTBT +GARD:0000299,SNOMED-CT,773692000,NA +GARD:0000299,Orphanet,231556,Exact +GARD:0000299,UMLS,C1856969,Exact +GARD:0000299,ICD-10,Q81.8,NTBT +GARD:0000299,OMIM,226440,Exact +GARD:0000302,Orphanet,99749,Exact +GARD:0000302,ICD-10,D70,NTBT +GARD:0000302,OMIM,610738,Exact +GARD:0000302,SNOMED-CT,770942003,NA +GARD:0000304,Orphanet,90340,Exact +GARD:0000304,OMIM,186580,Exact +GARD:0000304,MedDRA,10071755,Exact +GARD:0000304,ICD-10,D89.8,NTBT +GARD:0000304,UMLS,C1861303,Exact +GARD:0000304,SNOMED-CT,818950005,NA +GARD:0000305,Orphanet,3236,Exact +GARD:0000305,OMIM,221320,Exact +GARD:0000305,MeSH,C535993,Exact +GARD:0000305,UMLS,C1857340,Exact +GARD:0000305,SNOMED-CT,763213001,NA +GARD:0000306,Orphanet,2848,Exact +GARD:0000306,OMIM,208250,Exact +GARD:0000306,UMLS,C1859690,Exact +GARD:0000306,ICD-10,M12.8,NTBT +GARD:0000306,SNOMED-CT,771187008,NA +GARD:0000307,SNOMED-CT,715438008,NA +GARD:0000307,Orphanet,2308,Exact +GARD:0000307,UMLS,C0795841,Exact +GARD:0000307,MeSH,D054868,Exact +GARD:0000307,OMIM,147791,Exact +GARD:0000307,ICD-10,Q93.5,NTBT +GARD:0000310,SNOMED-CT,720639008,NA +GARD:0000310,Orphanet,3474,Exact +GARD:0000310,OMIM,280000,Exact +GARD:0000310,UMLS,C1848392,Exact +GARD:0000310,ICD-10,Q87.8,NTBT +GARD:0000312,Orphanet,97360,Exact +GARD:0000312,OMIM,616894,BTNT +GARD:0000312,OMIM,180700,BTNT +GARD:0000312,ICD-10,Q87.1,NTBT +GARD:0000312,OMIM,616331,BTNT +GARD:0000312,OMIM,268310,BTNT +GARD:0000312,UMLS,C0265205,Exact +GARD:0000312,SNOMED-CT,76520005,NA +GARD:0000314,Orphanet,3124,Exact +GARD:0000314,UMLS,C2936921,Exact +GARD:0000314,UMLS,C0268556,Exact +GARD:0000314,MeSH,C537218,Exact +GARD:0000314,ICD-10,E72.3,NTBT +GARD:0000314,OMIM,268700,Exact +GARD:0000314,SNOMED-CT,111397004,NA +GARD:0000319,Orphanet,494421,Exact +GARD:0000319,ICD-10,C41.4,BTNT +GARD:0000320,SNOMED-CT,716094008,NA +GARD:0000320,Orphanet,2256,Exact +GARD:0000320,OMIM,228940,Exact +GARD:0000320,UMLS,C1856727,Exact +GARD:0000320,ICD-10,Q87.8,NTBT +GARD:0000321,SNOMED-CT,236527004,NA +GARD:0000321,Orphanet,2613,Exact +GARD:0000321,UMLS,C0403548,Exact +GARD:0000321,ICD-10,N07.8,NTBT +GARD:0000321,OMIM,256020,Exact +GARD:0000322,Orphanet,3156,Exact +GARD:0000322,OMIM,616629,BTNT +GARD:0000322,MeSH,C537580,Exact +GARD:0000322,OMIM,614845,BTNT +GARD:0000322,ICD-10,Q61.5,NTBT +GARD:0000322,OMIM,266900,Exact +GARD:0000322,OMIM,613615,BTNT +GARD:0000322,UMLS,C0403553,Exact +GARD:0000322,OMIM,610189,BTNT +GARD:0000322,OMIM,609254,BTNT +GARD:0000322,OMIM,616307,BTNT +GARD:0000322,OMIM,606996,BTNT +GARD:0000322,OMIM,606995,BTNT +GARD:0000322,SNOMED-CT,236531005,NA +GARD:0000324,Orphanet,2230,Exact +GARD:0000324,SNOMED-CT,721842008,NA +GARD:0000324,ICD-10,E23.0,NTBT +GARD:0000325,Orphanet,95431,Exact +GARD:0000325,ICD-10,O43.0,NTBT +GARD:0000325,MedDRA,10058328,Exact +GARD:0000325,SNOMED-CT,13404009,NA +GARD:0000329,SNOMED-CT,238931006,NA +GARD:0000329,Orphanet,901,Exact +GARD:0000329,UMLS,C0343101,Exact +GARD:0000329,ICD-10,L98.3,Exact +GARD:0000329,MeSH,C536693,Exact +GARD:0000329,ICD-11,EB30,Exact +GARD:0000330,Orphanet,3455,Exact +GARD:0000330,SNOMED-CT,238874008,NA +GARD:0000330,ICD-10,E34.8,NTBT +GARD:0000330,MeSH,C536423,Exact +GARD:0000330,UMLS,C0406586,Exact +GARD:0000330,OMIM,264090,Exact +GARD:0000331,SNOMED-CT,389171005,NA +GARD:0000331,Orphanet,3472,Exact +GARD:0000331,MeSH,C536719,Exact +GARD:0000331,ICD-11,LD24.23,Exact +GARD:0000331,UMLS,C1857663,Exact +GARD:0000331,OMIM,216340,Exact +GARD:0000331,ICD-10,Q87.8,NTBT +GARD:0000332,Orphanet,1555,Exact +GARD:0000332,OMIM,123790,Exact +GARD:0000332,ICD-10,Q87.8,NTBT +GARD:0000332,UMLS,C1852406,Exact +GARD:0000333,Orphanet,33001,Exact +GARD:0000333,MeSH,C537710,Exact +GARD:0000333,OMIM,153400,Exact +GARD:0000333,ICD-10,Q82.0,NTBT +GARD:0000333,UMLS,C0265345,Exact +GARD:0000333,SNOMED-CT,8634009,NA +GARD:0000334,Orphanet,41,Exact +GARD:0000334,OMIM,127400,Exact +GARD:0000334,MeSH,C535729,Exact +GARD:0000334,ICD-10,L81.8,NTBT +GARD:0000334,UMLS,C0406775,Exact +GARD:0000334,SNOMED-CT,239085000,NA +GARD:0000336,Orphanet,101003,Exact +GARD:0000336,ICD-10,G11.4,NTBT +GARD:0000336,OMIM,270750,Exact +GARD:0000336,UMLS,C0796019,Exact +GARD:0000336,SNOMED-CT,726608002,NA +GARD:0000341,Orphanet,3471,Exact +GARD:0000341,OMIM,279000,Exact +GARD:0000341,MedDRA,10063689,Exact +GARD:0000341,MeSH,C536718,Exact +GARD:0000341,ICD-10,N46,NTBT +GARD:0000341,ICD-11,CB40.1,Exact +GARD:0000341,UMLS,C0340037,Exact +GARD:0000341,SNOMED-CT,233666007,NA +GARD:0000343,SNOMED-CT,718608006,NA +GARD:0000343,Orphanet,166063,Exact +GARD:0000343,ICD-10,Q04.3,NTBT +GARD:0000343,OMIM,225753,Exact +GARD:0000343,MeSH,C536716,Exact +GARD:0000343,UMLS,C1856974,Exact +GARD:0000344,Orphanet,2166,Exact +GARD:0000344,OMIM,264480,Exact +GARD:0000344,ICD-10,Q87.8,NTBT +GARD:0000344,UMLS,C1849649,Exact +GARD:0000344,SNOMED-CT,716091000,NA +GARD:0000345,Orphanet,3055,Exact +GARD:0000345,ICD-10,Q87.8,NTBT +GARD:0000345,UMLS,C0796264,Exact +GARD:0000345,SNOMED-CT,765471005,NA +GARD:0000346,SNOMED-CT,707276009,NA +GARD:0000346,Orphanet,3322,Exact +GARD:0000346,OMIM,616353,BTNT +GARD:0000346,UMLS,C1846142,Exact +GARD:0000346,OMIM,616553,BTNT +GARD:0000346,OMIM,613990,BTNT +GARD:0000346,MeSH,C536068,Exact +GARD:0000346,OMIM,615190,BTNT +GARD:0000346,ICD-10,D61.0,NTBT +GARD:0000346,OMIM,305000,NTBT +GARD:0000346,OMIM,613989,BTNT +GARD:0000347,SNOMED-CT,722206009,NA +GARD:0000347,Orphanet,2255,Exact +GARD:0000347,OMIM,600001,Exact +GARD:0000347,ICD-10,Q87.8,NTBT +GARD:0000347,UMLS,C2931296,Exact +GARD:0000348,SNOMED-CT,404081005,NA +GARD:0000348,Orphanet,876,Exact +GARD:0000348,ICD-10,C56,BTNT +GARD:0000348,UMLS,C0014145,Exact +GARD:0000348,ICD-10,C62.9,BTNT +GARD:0000348,OMIM,273300,NTBT +GARD:0000348,MedDRA,10048251,Exact +GARD:0000350,Orphanet,1858,Exact +GARD:0000350,OMIM,601187,Exact +GARD:0000350,UMLS,C0796046,Exact +GARD:0000350,ICD-10,Q87.5,NTBT +GARD:0000350,SNOMED-CT,715428003,NA +GARD:0000351,SNOMED-CT,721082002,NA +GARD:0000351,Orphanet,1562,Exact +GARD:0000351,UMLS,C1833698,Exact +GARD:0000351,ICD-10,Q78.8,NTBT +GARD:0000351,OMIM,166705,Exact +GARD:0000351,MeSH,C536061,Exact +GARD:0000354,SNOMED-CT,732954002,NA +GARD:0000354,Orphanet,2324,Exact +GARD:0000354,UMLS,C1850140,Exact +GARD:0000354,MeSH,C537706,Exact +GARD:0000354,OMIM,259690,Exact +GARD:0000358,Orphanet,2804,Exact +GARD:0000358,ICD-10,Q87.8,NTBT +GARD:0000358,UMLS,C0796110,Exact +GARD:0000358,OMIM,311450,Exact +GARD:0000358,SNOMED-CT,719020006,NA +GARD:0000359,SNOMED-CT,254093009,NA +GARD:0000359,Orphanet,1515,Exact +GARD:0000359,OMIM,614378,BTNT +GARD:0000359,OMIM,617102,BTNT +GARD:0000359,UMLS,C0432235,Exact +GARD:0000359,OMIM,614099,BTNT +GARD:0000359,ICD-10,Q87.5,NTBT +GARD:0000359,OMIM,613610,BTNT +GARD:0000359,OMIM,218330,Exact +GARD:0000360,Orphanet,921,Exact +GARD:0000360,ICD-10,Q87.8,NTBT +GARD:0000360,MeSH,C535559,Exact +GARD:0000360,OMIM,302905,Exact +GARD:0000360,UMLS,C1844862,Exact +GARD:0000360,SNOMED-CT,718574003,NA +GARD:0000361,Orphanet,945,Exact +GARD:0000361,MeSH,D009436,Exact +GARD:0000361,ICD-10,Q00.0,NTBT +GARD:0000361,UMLS,C0702169,Exact +GARD:0000361,UMLS,C2930936,Exact +GARD:0000361,MeSH,C535570,Exact +GARD:0000361,SNOMED-CT,203923004,NA +GARD:0000363,Orphanet,926,Exact +GARD:0000363,OMIM,614097,Exact +GARD:0000363,UMLS,C0268419,Exact +GARD:0000363,ICD-11,5C57.1,NTBT +GARD:0000363,ICD-10,E80.3,Exact +GARD:0000363,UMLS,C2931868,Exact +GARD:0000363,SNOMED-CT,267454002,NA +GARD:0000364,SNOMED-CT,111317000,NA +GARD:0000364,Orphanet,1134,Exact +GARD:0000364,UMLS,C0265740,Exact +GARD:0000364,ICD-11,LA70.0,Exact +GARD:0000364,ICD-10,Q30.1,NTBT +GARD:0000364,MeSH,C537438,Exact +GARD:0000365,Orphanet,91,Exact +GARD:0000365,UMLS,C0878680,Exact +GARD:0000365,UMLS,C0853662,Exact +GARD:0000365,MeSH,C537436,Exact +GARD:0000365,UMLS,C1960539,Exact +GARD:0000365,OMIM,613546,Exact +GARD:0000365,ICD-10,E25.8,NTBT +GARD:0000368,Orphanet,2407,Exact +GARD:0000368,ICD-10,Q81.8,NTBT +GARD:0000368,UMLS,C1328355,Exact +GARD:0000368,OMIM,245660,Exact +GARD:0000368,SNOMED-CT,722675000,NA +GARD:0000369,Orphanet,1435,Exact +GARD:0000369,ICD-10,Q93.5,NTBT +GARD:0000369,OMIM,303110,Exact +GARD:0000369,SNOMED-CT,717761005,NA +GARD:0000369,UMLS,C1844836,Exact +GARD:0000370,Orphanet,1414,Exact +GARD:0000370,OMIM,214900,Exact +GARD:0000370,UMLS,C0268314,Exact +GARD:0000370,ICD-10,Q82.0,NTBT +GARD:0000370,SNOMED-CT,28724005,NA +GARD:0000371,Orphanet,3010,Exact +GARD:0000371,MeSH,C536259,Exact +GARD:0000371,UMLS,C2931142,Exact +GARD:0000371,ICD-10,Q87.8,NTBT +GARD:0000371,OMIM,600096,Exact +GARD:0000371,SNOMED-CT,721887007,NA +GARD:0000372,Orphanet,638,Exact +GARD:0000372,OMIM,601321,Exact +GARD:0000372,SNOMED-CT,715344006,NA +GARD:0000372,MeSH,C537393,Exact +GARD:0000372,ICD-10,Q87.1,NTBT +GARD:0000372,UMLS,C0553586,Exact +GARD:0000372,UMLS,C2931482,Exact +GARD:0000372,MeSH,D009456,Exact +GARD:0000373,Orphanet,346,Exact +GARD:0000373,ICD-10,L66.2,Exact +GARD:0000373,ICD-11,ED70.50,Exact +GARD:0000373,SNOMED-CT,53593008,NA +GARD:0000374,SNOMED-CT,763863002,NA +GARD:0000374,Orphanet,2835,Exact +GARD:0000374,UMLS,C2931302,Exact +GARD:0000374,OMIM,600399,Exact +GARD:0000375,SNOMED-CT,716248001,NA +GARD:0000375,Orphanet,3253,Exact +GARD:0000375,OMIM,225060,Exact +GARD:0000375,UMLS,C2931488,Exact +GARD:0000375,MeSH,C536726,Exact +GARD:0000376,Orphanet,931,Exact +GARD:0000376,SNOMED-CT,177504007,NA +GARD:0000376,ICD-10,Q74.8,NTBT +GARD:0000376,OMIM,200500,Exact +GARD:0000376,MeSH,C536014,Exact +GARD:0000376,UMLS,C0265559,Exact +GARD:0000377,Orphanet,973,Exact +GARD:0000377,OMIM,102650,Exact +GARD:0000377,ICD-10,Q71.3,NTBT +GARD:0000378,SNOMED-CT,721584005,NA +GARD:0000378,Orphanet,2316,Exact +GARD:0000378,OMIM,147770,Exact +GARD:0000378,MeSH,C535882,Exact +GARD:0000378,ICD-10,Q87.8,NTBT +GARD:0000378,UMLS,C0796002,Exact +GARD:0000379,SNOMED-CT,702397002,NA +GARD:0000379,Orphanet,3033,Exact +GARD:0000379,OMIM,267430,BTNT +GARD:0000379,ICD-11,LB30.3,Exact +GARD:0000379,ICD-10,Q63.8,NTBT +GARD:0000379,UMLS,C0266313,Exact +GARD:0000380,Orphanet,1571,Exact +GARD:0000380,SNOMED-CT,703542000,NA +GARD:0000380,UMLS,C1849409,Exact +GARD:0000380,OMIM,267750,Exact +GARD:0000380,ICD-10,Q15.8,NTBT +GARD:0000380,MeSH,C537209,Exact +GARD:0000381,SNOMED-CT,720501007,NA +GARD:0000381,Orphanet,1129,Exact +GARD:0000381,UMLS,C2931398,Exact +GARD:0000381,ICD-10,Q87.8,NTBT +GARD:0000383,SNOMED-CT,725050005,NA +GARD:0000383,Orphanet,53,Exact +GARD:0000383,OMIM,166600,Exact +GARD:0000383,ICD-10,Q78.2,NTBT +GARD:0000383,UMLS,C3179239,Exact +GARD:0000384,Orphanet,978,Exact +GARD:0000384,OMIM,103285,Exact +GARD:0000384,MeSH,C538052,Exact +GARD:0000384,ICD-10,Q87.2,NTBT +GARD:0000384,UMLS,C1863204,Exact +GARD:0000384,SNOMED-CT,720464003,NA +GARD:0000385,Orphanet,3473,Exact +GARD:0000385,OMIM,618658,BTNT +GARD:0000385,SNOMED-CT,699447001,NA +GARD:0000385,UMLS,C0796013,Exact +GARD:0000385,ICD-10,Q87.8,NTBT +GARD:0000385,OMIM,135500,Exact +GARD:0000385,OMIM,616455,BTNT +GARD:0000386,Orphanet,3301,Exact +GARD:0000386,ICD-10,Q87.8,NTBT +GARD:0000386,SNOMED-CT,716249009,NA +GARD:0000386,OMIM,273395,BTNT +GARD:0000386,OMIM,618021,BTNT +GARD:0000386,MeSH,C536500,Exact +GARD:0000386,UMLS,C2931218,Exact +GARD:0000387,Orphanet,911,Exact +GARD:0000387,UMLS,C2931299,Exact +GARD:0000387,ICD-10,D81.8,NTBT +GARD:0000387,OMIM,269840,Exact +GARD:0000387,SNOMED-CT,716378008,NA +GARD:0000390,Orphanet,2790,Exact +GARD:0000390,SNOMED-CT,254131007,NA +GARD:0000390,UMLS,C0432273,Exact +GARD:0000390,ICD-10,Q78.2,NTBT +GARD:0000390,OMIM,144750,Exact +GARD:0000390,UMLS,C2931308,Exact +GARD:0000391,SNOMED-CT,254125009,NA +GARD:0000391,Orphanet,2777,Exact +GARD:0000391,OMIM,166450,Exact +GARD:0000391,ICD-10,Q78.2,NTBT +GARD:0000391,UMLS,C0432264,Exact +GARD:0000393,Orphanet,879,Exact +GARD:0000393,ICD-10,B88.1,Exact +GARD:0000393,ICD-11,1G05,Exact +GARD:0000393,UMLS,C0277356,Exact +GARD:0000393,MeSH,D058285,Exact +GARD:0000393,SNOMED-CT,64612002,NA +GARD:0000394,Orphanet,3268,Exact +GARD:0000394,UMLS,C1863881,Exact +GARD:0000394,OMIM,603438,Exact +GARD:0000394,SNOMED-CT,719162001,NA +GARD:0000395,SNOMED-CT,723503006,NA +GARD:0000395,Orphanet,1574,Exact +GARD:0000395,UMLS,C2931831,Exact +GARD:0000395,ICD-10,H35.5,NTBT +GARD:0000395,OMIM,267760,Exact +GARD:0000396,SNOMED-CT,19265001,NA +GARD:0000396,Orphanet,3392,Exact +GARD:0000396,ICD-10,A21.1,BTNT +GARD:0000396,ICD-10,A21.9,BTNT +GARD:0000396,ICD-10,A21.0,BTNT +GARD:0000396,MedDRA,10045146,Exact +GARD:0000396,ICD-10,A21.3,BTNT +GARD:0000396,ICD-10,A21.2,BTNT +GARD:0000396,UMLS,C0041351,Exact +GARD:0000396,ICD-10,A21.8,BTNT +GARD:0000396,MeSH,D014406,Exact +GARD:0000396,ICD-10,A21.7,BTNT +GARD:0000399,SNOMED-CT,74398009,NA +GARD:0000399,Orphanet,393,Exact +GARD:0000399,OMIM,278850,BTNT +GARD:0000399,OMIM,400045,Exact +GARD:0000399,UMLS,C2936419,Exact +GARD:0000399,UMLS,C0432475,Exact +GARD:0000399,MeSH,D058531,Exact +GARD:0000399,OMIM,300833,BTNT +GARD:0000399,ICD-10,Q99.1,NTBT +GARD:0000400,Orphanet,2067,Exact +GARD:0000400,SNOMED-CT,721843003,NA +GARD:0000400,OMIM,230740,Exact +GARD:0000400,UMLS,C0406723,Exact +GARD:0000400,ICD-10,Q87.8,NTBT +GARD:0000402,OMIM,165199,Exact +GARD:0000402,UMLS,C1833831,NA +GARD:0000402,GeneticAlliance,5388,NA +GARD:0000404,SNOMED-CT,722113001,NA +GARD:0000404,Orphanet,2786,Exact +GARD:0000404,OMIM,601220,Exact +GARD:0000404,UMLS,C1832592,Exact +GARD:0000405,Orphanet,3191,Exact +GARD:0000405,OMIM,271960,Exact +GARD:0000405,UMLS,C0795947,Exact +GARD:0000405,SNOMED-CT,783096008,NA +GARD:0000406,Orphanet,2253,Exact +GARD:0000406,UMLS,C2931644,Exact +GARD:0000406,OMIM,136520,NTBT +GARD:0000406,ICD-10,H26.0,NTBT +GARD:0000406,SNOMED-CT,778042000,NA +GARD:0000407,SNOMED-CT,10170007,NA +GARD:0000407,Orphanet,999,Exact +GARD:0000407,UMLS,C1856899,Exact +GARD:0000407,OMIM,227010,Exact +GARD:0000407,MeSH,C535508,Exact +GARD:0000407,ICD-10,E70.3,NTBT +GARD:0000408,Orphanet,629,Exact +GARD:0000408,OMIM,262650,Exact +GARD:0000408,ICD-10,E23.0,NTBT +GARD:0000408,UMLS,C1849779,Exact +GARD:0000409,Orphanet,2798,Exact +GARD:0000409,SNOMED-CT,763861000,NA +GARD:0000409,OMIM,600176,Exact +GARD:0000409,ICD-10,G40.4,NTBT +GARD:0000409,UMLS,C1838491,Exact +GARD:0000411,Orphanet,2323,Exact +GARD:0000411,ICD-10,Q87.1,NTBT +GARD:0000411,UMLS,C1855840,Exact +GARD:0000411,OMIM,241410,Exact +GARD:0000412,SNOMED-CT,26374003,NA +GARD:0000412,Orphanet,1221,Exact +GARD:0000412,ICD-10,K13.0,NTBT +GARD:0000412,MeSH,C535921,Exact +GARD:0000412,OMIM,118330,Exact +GARD:0000412,UMLS,C0267034,Exact +GARD:0000413,SNOMED-CT,254116003,NA +GARD:0000413,Orphanet,2078,Exact +GARD:0000413,ICD-10,Q82.8,NTBT +GARD:0000413,MeSH,C537799,Exact +GARD:0000413,OMIM,231070,Exact +GARD:0000413,UMLS,C0432255,Exact +GARD:0000414,SNOMED-CT,722375007,NA +GARD:0000414,Orphanet,1226,Exact +GARD:0000414,ICD-10,E03.1,NTBT +GARD:0000414,MeSH,C537901,Exact +GARD:0000414,OMIM,241850,Exact +GARD:0000414,UMLS,C1855794,Exact +GARD:0000415,Orphanet,2985,Exact +GARD:0000415,SNOMED-CT,733086003,NA +GARD:0000415,ICD-10,Q87.8,NTBT +GARD:0000415,OMIM,200130,Exact +GARD:0000415,UMLS,C0796125,Exact +GARD:0000418,SNOMED-CT,190764000,NA +GARD:0000418,Orphanet,2843,Exact +GARD:0000418,UMLS,C0268162,Exact +GARD:0000418,MedDRA,10064170,Exact +GARD:0000418,MeSH,C536652,Exact +GARD:0000418,OMIM,260800,Exact +GARD:0000418,ICD-10,E74.8,NTBT +GARD:0000420,OMIM,276300,Exact +GARD:0000420,SNOMED-CT,61665008,NA +GARD:0000420,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/constitutional-mismatch-repair-deficiency-syndrome,NA +GARD:0000420,GeneticAlliance,7267,NA +GARD:0000420,DiseaseOntology,112182,NA +GARD:0000420,UMLS,C0265325,NA +GARD:0000420,UMLS,C5399763,NA +GARD:0000424,SNOMED-CT,277921008,NA +GARD:0000424,Orphanet,3469,Exact +GARD:0000424,ICD-10,Q04.3,NTBT +GARD:0000424,UMLS,C0795952,Exact +GARD:0000424,OMIM,207770,Exact +GARD:0000424,UMLS,C0431348,Exact +GARD:0000424,MeSH,C536767,Exact +GARD:0000425,Orphanet,1063,Exact +GARD:0000425,MeSH,C536924,Exact +GARD:0000425,ICD-10,D18.0,NTBT +GARD:0000425,OMIM,607859,Exact +GARD:0000425,UMLS,C0346073,Exact +GARD:0000425,SNOMED-CT,254786000,NA +GARD:0000427,SNOMED-CT,771263004,NA +GARD:0000427,Orphanet,2997,Exact +GARD:0000427,OMIM,193240,Exact +GARD:0000427,UMLS,C1860403,Exact +GARD:0000428,Orphanet,1521,Exact +GARD:0000428,ICD-10,Q87.8,NTBT +GARD:0000428,SNOMED-CT,720757001,NA +GARD:0000429,Orphanet,295000,Exact +GARD:0000429,OMIM,217100,Exact +GARD:0000429,ICD-11,LD26.5,Exact +GARD:0000429,ICD-10,Q79.8,NTBT +GARD:0000429,SNOMED-CT,765206003,NA +GARD:0000431,SNOMED-CT,35045004,NA +GARD:0000431,Orphanet,83463,Exact +GARD:0000431,ICD-11,LA22.0,Exact +GARD:0000431,OMIM,128800,BTNT +GARD:0000431,ICD-10,Q17.2,Exact +GARD:0000431,MeSH,C537772,Exact +GARD:0000431,UMLS,C0152423,Exact +GARD:0000431,MedDRA,10027555,Exact +GARD:0000431,OMIM,600674,Exact +GARD:0000433,Orphanet,320,Exact +GARD:0000433,MeSH,D043204,Exact +GARD:0000433,UMLS,C0342488,Exact +GARD:0000433,UMLS,C2936861,Exact +GARD:0000433,UMLS,C3887949,Exact +GARD:0000433,MeSH,C537422,Exact +GARD:0000433,OMIM,218030,Exact +GARD:0000433,ICD-10,E26.1,NTBT +GARD:0000433,SNOMED-CT,237770005,NA +GARD:0000434,Orphanet,2182,Exact +GARD:0000434,OMIM,307000,Exact +GARD:0000434,UMLS,C0265216,Exact +GARD:0000434,ICD-11,LA04.0,Exact +GARD:0000434,ICD-10,Q03.0,NTBT +GARD:0000434,SNOMED-CT,71779008,NA +GARD:0000435,SNOMED-CT,732247000,NA +GARD:0000435,Orphanet,1995,Exact +GARD:0000435,ICD-10,Q87.8,NTBT +GARD:0000435,UMLS,C2931789,Exact +GARD:0000436,SNOMED-CT,239920006,NA +GARD:0000436,Orphanet,829,Exact +GARD:0000436,MedDRA,10064056,Exact +GARD:0000436,ICD-10,M06.1,Exact +GARD:0000436,UMLS,C0043195,Exact +GARD:0000436,MeSH,D014924,Exact +GARD:0000436,UMLS,C0085253,Exact +GARD:0000436,MeSH,D016706,Exact +GARD:0000436,MedDRA,10058493,Exact +GARD:0000436,ICD-11,FA23,Exact +GARD:0000438,SNOMED-CT,715340002,NA +GARD:0000438,Orphanet,62,Exact +GARD:0000438,UMLS,C2936332,Exact +GARD:0000438,ICD-10,G71.0,NTBT +GARD:0000438,OMIM,608099,Exact +GARD:0000438,UMLS,C1842550,Exact +GARD:0000448,Orphanet,1493,Exact +GARD:0000448,SNOMED-CT,719824001,NA +GARD:0000448,ICD-10,Q87.8,NTBT +GARD:0000448,UMLS,C1855772,Exact +GARD:0000448,OMIM,242840,Exact +GARD:0000453,Orphanet,90301,Exact +GARD:0000453,ICD-10,E13,NTBT +GARD:0000453,OMIM,200170,Exact +GARD:0000453,SNOMED-CT,718715007,NA +GARD:0000454,Orphanet,674,Exact +GARD:0000454,SNOMED-CT,79037006,NA +GARD:0000454,ICD-11,LB21.2,Exact +GARD:0000454,ICD-10,Q45.3,NTBT +GARD:0000454,UMLS,C0266268,Exact +GARD:0000454,MeSH,C536003,Exact +GARD:0000455,OMIM,200400,Exact +GARD:0000455,UMLS,C1860213,NA +GARD:0000455,DiseaseOntology,9164,NA +GARD:0000455,GeneticAlliance,102,NA +GARD:0000456,Orphanet,929,Exact +GARD:0000456,UMLS,C1860212,Exact +GARD:0000456,SNOMED-CT,718573009,NA +GARD:0000456,MeSH,C536010,Exact +GARD:0000456,ICD-10,Q39.5,NTBT +GARD:0000456,OMIM,200450,Exact +GARD:0000457,Orphanet,869,Exact +GARD:0000457,MeSH,C536009,Exact +GARD:0000457,OMIM,615510,BTNT +GARD:0000457,OMIM,231550,Exact +GARD:0000457,UMLS,C2931084,Exact +GARD:0000457,MeSH,C536008,Exact +GARD:0000457,UMLS,C0271742,Exact +GARD:0000457,ICD-10,E27.4,NTBT +GARD:0000457,SNOMED-CT,45414006,NA +GARD:0000458,Orphanet,168555,Exact +GARD:0000458,ICD-10,Q77.8,NTBT +GARD:0000458,OMIM,609052,Exact +GARD:0000458,UMLS,C1836862,Exact +GARD:0000458,SNOMED-CT,782912001,NA +GARD:0000459,Orphanet,93299,Exact +GARD:0000459,ICD-10,Q77.0,NTBT +GARD:0000459,MeSH,C536015,Exact +GARD:0000459,OMIM,200600,Exact +GARD:0000459,UMLS,C0265273,Exact +GARD:0000459,SNOMED-CT,42725006,NA +GARD:0000460,SNOMED-CT,14870002,NA +GARD:0000460,Orphanet,93298,Exact +GARD:0000460,ICD-10,Q77.0,NTBT +GARD:0000460,MeSH,C536016,Exact +GARD:0000460,OMIM,600972,Exact +GARD:0000460,UMLS,C0265274,Exact +GARD:0000465,SNOMED-CT,87827003,NA +GARD:0000465,Orphanet,33,Exact +GARD:0000465,MeSH,C538167,Exact +GARD:0000465,ICD-10,E71.1,NTBT +GARD:0000465,OMIM,243500,Exact +GARD:0000465,UMLS,C0268575,Exact +GARD:0000467,SNOMED-CT,69080001,NA +GARD:0000467,Orphanet,35,Exact +GARD:0000467,OMIM,606054,Exact +GARD:0000467,UMLS,C0311298,Exact +GARD:0000467,ICD-10,E71.1,NTBT +GARD:0000467,UMLS,C2717876,Exact +GARD:0000467,UMLS,C0268579,Exact +GARD:0000467,MeSH,D056693,Exact +GARD:0000469,Orphanet,2561,Exact +GARD:0000469,MeSH,C538170,Exact +GARD:0000469,UMLS,C1860167,Exact +GARD:0000469,ICD-10,K00.2,NTBT +GARD:0000469,OMIM,200970,Exact +GARD:0000469,SNOMED-CT,722280000,NA +GARD:0000475,SNOMED-CT,191298004,NA +GARD:0000475,Orphanet,26348,Exact +GARD:0000475,UMLS,C0392610,Exact +GARD:0000475,ICD-10,D68.4,NTBT +GARD:0000476,Orphanet,454,Exact +GARD:0000476,ICD-10,L85.0,Exact +GARD:0000476,ICD-11,ED50.0,Exact +GARD:0000476,SNOMED-CT,8691004,NA +GARD:0000480,SNOMED-CT,720414005,NA +GARD:0000480,Orphanet,958,Exact +GARD:0000480,ICD-10,Q87.8,NTBT +GARD:0000480,OMIM,200980,Exact +GARD:0000480,MeSH,C535665,Exact +GARD:0000480,UMLS,C1860166,Exact +GARD:0000484,Orphanet,1784,Exact +GARD:0000484,UMLS,C1860118,Exact +GARD:0000484,ICD-10,Q75.1,NTBT +GARD:0000484,OMIM,201180,Exact +GARD:0000484,SNOMED-CT,720408003,NA +GARD:0000491,SNOMED-CT,773773006,NA +GARD:0000491,Orphanet,2956,Exact +GARD:0000491,UMLS,C2931761,Exact +GARD:0000491,ICD-10,Q87.5,NTBT +GARD:0000491,MeSH,C538180,Exact +GARD:0000491,UMLS,C2931790,Exact +GARD:0000491,MeSH,C538277,Exact +GARD:0000494,SNOMED-CT,720419000,NA +GARD:0000494,Orphanet,1786,Exact +GARD:0000494,OMIM,101805,Exact +GARD:0000494,MeSH,C538182,Exact +GARD:0000494,UMLS,C2931762,Exact +GARD:0000494,ICD-10,Q75.4,NTBT +GARD:0000496,Orphanet,1788,Exact +GARD:0000496,MeSH,C538183,Exact +GARD:0000496,OMIM,201170,Exact +GARD:0000496,ICD-10,Q75.4,NTBT +GARD:0000496,UMLS,C1860119,Exact +GARD:0000496,SNOMED-CT,720430002,NA +GARD:0000497,Orphanet,952,Exact +GARD:0000497,OMIM,193530,Exact +GARD:0000497,MeSH,C536695,Exact +GARD:0000497,UMLS,C0457013,Exact +GARD:0000497,ICD-10,Q75.4,NTBT +GARD:0000498,SNOMED-CT,35520007,NA +GARD:0000498,Orphanet,245,Exact +GARD:0000498,UMLS,C0265245,Exact +GARD:0000498,OMIM,154400,Exact +GARD:0000498,ICD-10,Q75.4,NTBT +GARD:0000498,MeSH,C538184,Exact +GARD:0000499,SNOMED-CT,720429007,NA +GARD:0000499,Orphanet,1787,Exact +GARD:0000499,MeSH,C538185,Exact +GARD:0000499,UMLS,C1866168,Exact +GARD:0000499,ICD-10,Q75.4,NTBT +GARD:0000499,OMIM,601829,Exact +GARD:0000504,Orphanet,93316,Exact +GARD:0000504,UMLS,C1866688,Exact +GARD:0000504,SNOMED-CT,719304005,NA +GARD:0000504,OMIM,184253,Exact +GARD:0000504,ICD-10,Q77.8,NTBT +GARD:0000506,Orphanet,968,Exact +GARD:0000506,OMIM,201250,Exact +GARD:0000506,ICD-10,Q78.8,NTBT +GARD:0000506,UMLS,C2930970,Exact +GARD:0000506,SNOMED-CT,389167007,NA +GARD:0000507,SNOMED-CT,718559000,NA +GARD:0000507,Orphanet,40,Exact +GARD:0000507,MeSH,C535661,Exact +GARD:0000507,OMIM,602875,Exact +GARD:0000507,ICD-10,Q77.8,NTBT +GARD:0000507,UMLS,C1864356,Exact +GARD:0000508,Orphanet,955,Exact +GARD:0000508,UMLS,C2930971,Exact +GARD:0000508,OMIM,102400,BTNT +GARD:0000508,UMLS,C0917715,Exact +GARD:0000508,ICD-10,M89.5,NTBT +GARD:0000508,MeSH,D031845,Exact +GARD:0000508,OMIM,102500,Exact +GARD:0000508,MeSH,C531695,Exact +GARD:0000508,MeSH,C535663,Exact +GARD:0000508,SNOMED-CT,63122002,NA +GARD:0000512,SNOMED-CT,720457000,NA +GARD:0000512,Orphanet,957,Exact +GARD:0000512,ICD-10,Q74.8,NTBT +GARD:0000512,OMIM,102510,Exact +GARD:0000512,UMLS,C1863307,Exact +GARD:0000514,Orphanet,971,Exact +GARD:0000514,ICD-10,Q87.2,NTBT +GARD:0000514,UMLS,C3495490,Exact +GARD:0000514,OMIM,201310,BTNT +GARD:0000514,OMIM,102520,Exact +GARD:0000514,UMLS,C0796290,Exact +GARD:0000514,SNOMED-CT,720458005,NA +GARD:0000519,Orphanet,724,Exact +GARD:0000519,ICD-11,CB02.10,Exact +GARD:0000519,ICD-10,J82,NTBT +GARD:0000519,SNOMED-CT,724499007,NA +GARD:0000521,Orphanet,3243,Exact +GARD:0000521,ICD-10,L98.2,Exact +GARD:0000521,MedDRA,10000748,Exact +GARD:0000521,ICD-11,EB20,Exact +GARD:0000521,OMIM,608068,Exact +GARD:0000521,MeSH,D016463,Exact +GARD:0000521,UMLS,C0085077,Exact +GARD:0000521,SNOMED-CT,84625002,NA +GARD:0000522,Orphanet,513,Exact +GARD:0000522,ICD-10,C91.0,Exact +GARD:0000522,OMIM,613067,BTNT +GARD:0000522,OMIM,613065,Exact +GARD:0000522,OMIM,247640,BTNT +GARD:0000522,UMLS,C0023449,Exact +GARD:0000524,Orphanet,518,Exact +GARD:0000524,UMLS,C0023462,Exact +GARD:0000524,ICD-10,C94.2,NTBT +GARD:0000524,SNOMED-CT,277602003,NA +GARD:0000525,SNOMED-CT,277601005,NA +GARD:0000525,Orphanet,514,Exact +GARD:0000525,MedDRA,10000871,Exact +GARD:0000525,MeSH,D007948,Exact +GARD:0000525,ICD-10,C92.7,NTBT +GARD:0000525,MedDRA,10059439,Exact +GARD:0000525,UMLS,C0023465,Exact +GARD:0000525,UMLS,C0457334,Exact +GARD:0000525,ICD-11,2A60.34,Exact +GARD:0000525,UMLS,C1318544,Exact +GARD:0000526,SNOMED-CT,359640008,NA +GARD:0000526,Orphanet,98833,Exact +GARD:0000526,UMLS,C0026998,Exact +GARD:0000526,ICD-10,C92.0,NTBT +GARD:0000527,Orphanet,98834,Exact +GARD:0000527,UMLS,C1879321,Exact +GARD:0000527,ICD-10,C92.0,NTBT +GARD:0000527,SNOMED-CT,359648001,NA +GARD:0000529,Orphanet,517,Exact +GARD:0000529,ICD-10,C92.5,Exact +GARD:0000529,ICD-11,2A60.33,Exact +GARD:0000529,MedDRA,10000890,Exact +GARD:0000529,UMLS,C0023479,Exact +GARD:0000529,MeSH,D015479,Exact +GARD:0000529,SNOMED-CT,110005000,NA +GARD:0000536,Orphanet,98829,Exact +GARD:0000536,ICD-11,2A60.0,NTBT +GARD:0000536,ICD-10,C92.5,Exact +GARD:0000536,SNOMED-CT,838355002,NA +GARD:0000538,SNOMED-CT,110004001,NA +GARD:0000538,Orphanet,520,Exact +GARD:0000538,ICD-11,2A60.0,NTBT +GARD:0000538,OMIM,612376,Exact +GARD:0000538,ICD-10,C92.4,Exact +GARD:0000538,MedDRA,10001019,Exact +GARD:0000538,MeSH,D015473,Exact +GARD:0000538,ICD-11,XH1A50,Exact +GARD:0000538,UMLS,C0023487,Exact +GARD:0000540,SNOMED-CT,128596003,NA +GARD:0000540,Orphanet,42,Exact +GARD:0000540,OMIM,201450,Exact +GARD:0000540,UMLS,C0220710,Exact +GARD:0000540,ICD-10,E71.3,NTBT +GARD:0000540,MeSH,C536038,Exact +GARD:0000546,SNOMED-CT,124274002,NA +GARD:0000546,Orphanet,976,Exact +GARD:0000546,ICD-10,E79.8,NTBT +GARD:0000546,OMIM,614723,Exact +GARD:0000546,UMLS,C3665382,Exact +GARD:0000546,UMLS,C0268120,Exact +GARD:0000547,SNOMED-CT,124525004,NA +GARD:0000547,Orphanet,45,Exact +GARD:0000547,OMIM,615511,BTNT +GARD:0000547,ICD-10,G71.3,NTBT +GARD:0000547,UMLS,C0268123,Exact +GARD:0000547,OMIM,612874,Exact +GARD:0000547,UMLS,C2931781,Exact +GARD:0000547,MeSH,C538234,Exact +GARD:0000550,Orphanet,46,Exact +GARD:0000550,ICD-10,E79.8,NTBT +GARD:0000550,UMLS,C0268126,Exact +GARD:0000550,MeSH,C538235,Exact +GARD:0000550,OMIM,103050,Exact +GARD:0000550,SNOMED-CT,15285008,NA +GARD:0000555,Orphanet,95702,Exact +GARD:0000555,OMIM,300200,Exact +GARD:0000555,UMLS,C0342482,Exact +GARD:0000555,SNOMED-CT,237764004,NA +GARD:0000555,ICD-10,E27.1,NTBT +GARD:0000555,OMIM,202155,BTNT +GARD:0000555,UMLS,C0220766,Exact +GARD:0000558,Orphanet,1501,Exact +GARD:0000558,MedDRA,10001388,Exact +GARD:0000558,OMIM,202300,BTNT +GARD:0000558,MeSH,D018268,Exact +GARD:0000558,ICD-11,2D11.Z,NTBT +GARD:0000558,ICD-10,C74.0,Exact +GARD:0000558,UMLS,C0206686,Exact +GARD:0000558,SNOMED-CT,255035007,NA +GARD:0000559,SNOMED-CT,238061001,NA +GARD:0000559,Orphanet,44,Exact +GARD:0000559,OMIM,617370,NTBT +GARD:0000559,MeSH,D018901,Exact +GARD:0000559,OMIM,614877,BTNT +GARD:0000559,UMLS,C0282525,Exact +GARD:0000559,OMIM,266510,BTNT +GARD:0000559,OMIM,614867,BTNT +GARD:0000559,OMIM,202370,BTNT +GARD:0000559,OMIM,601539,NTBT +GARD:0000559,OMIM,614863,BTNT +GARD:0000559,OMIM,614885,BTNT +GARD:0000559,OMIM,614920,BTNT +GARD:0000559,OMIM,614871,BTNT +GARD:0000559,OMIM,614873,BTNT +GARD:0000559,ICD-10,E71.3,NTBT +GARD:0000562,SNOMED-CT,763311001,NA +GARD:0000562,Orphanet,977,Exact +GARD:0000562,ICD-10,E27.4,NTBT +GARD:0000562,UMLS,C1846044,Exact +GARD:0000562,OMIM,300270,Exact +GARD:0000562,MeSH,C538051,Exact +GARD:0000564,SNOMED-CT,85505000,NA +GARD:0000564,Orphanet,83420,Exact +GARD:0000564,ICD-11,8B61.3,Exact +GARD:0000564,OMIM,271150,Exact +GARD:0000564,UMLS,C1838230,Exact +GARD:0000564,ICD-10,G12.1,NTBT +GARD:0000575,SNOMED-CT,230312006,NA +GARD:0000575,Orphanet,51,Exact +GARD:0000575,OMIM,114100,BTNT +GARD:0000575,OMIM,610329,BTNT +GARD:0000575,UMLS,C0393591,Exact +GARD:0000575,OMIM,610333,BTNT +GARD:0000575,OMIM,612952,BTNT +GARD:0000575,OMIM,225750,BTNT +GARD:0000575,OMIM,615846,BTNT +GARD:0000575,ICD-10,G31.8,NTBT +GARD:0000575,MeSH,C535607,Exact +GARD:0000575,OMIM,615010,BTNT +GARD:0000575,OMIM,610181,BTNT +GARD:0000583,Orphanet,2865,Exact +GARD:0000583,ICD-10,Q87.8,NTBT +GARD:0000583,UMLS,C2930950,Exact +GARD:0000583,SNOMED-CT,721073008,NA +GARD:0000584,Orphanet,2153,Exact +GARD:0000584,OMIM,235760,Exact +GARD:0000584,ICD-10,Q43.1,NTBT +GARD:0000584,UMLS,C1856110,Exact +GARD:0000584,SNOMED-CT,721223002,NA +GARD:0000587,Orphanet,2773,Exact +GARD:0000587,ICD-10,Q87.8,NTBT +GARD:0000587,SNOMED-CT,722110003,NA +GARD:0000588,SNOMED-CT,722284009,NA +GARD:0000588,Orphanet,2007,Exact +GARD:0000588,OMIM,203000,Exact +GARD:0000588,UMLS,C1859964,Exact +GARD:0000588,ICD-10,Q75.8,NTBT +GARD:0000589,Orphanet,998,Exact +GARD:0000589,MeSH,C537042,Exact +GARD:0000589,UMLS,C1845068,Exact +GARD:0000589,OMIM,300700,Exact +GARD:0000589,ICD-10,H90.5,NTBT +GARD:0000589,SNOMED-CT,722285005,NA +GARD:0000592,Orphanet,1000,Exact +GARD:0000592,SNOMED-CT,722054007,NA +GARD:0000592,UMLS,C1845069,Exact +GARD:0000592,OMIM,300650,Exact +GARD:0000592,MeSH,C537043,Exact +GARD:0000592,ICD-10,E70.3,NTBT +GARD:0000594,Orphanet,79434,Exact +GARD:0000594,MeSH,C537729,Exact +GARD:0000594,UMLS,C1847024,Exact +GARD:0000594,OMIM,606952,Exact +GARD:0000594,ICD-10,E70.3,NTBT +GARD:0000594,SNOMED-CT,82342003,NA +GARD:0000599,Orphanet,1915,Exact +GARD:0000599,UMLS,C0814154,Exact +GARD:0000599,UMLS,C0015923,Exact +GARD:0000599,MeSH,D005310,Exact +GARD:0000599,UMLS,C2985290,Exact +GARD:0000599,MedDRA,10016845,Exact +GARD:0000599,ICD-10,Q86.0,Exact +GARD:0000599,ICD-11,LD2F.00,Exact +GARD:0000599,UMLS,C3146244,Exact +GARD:0000599,SNOMED-CT,205788004,NA +GARD:0000600,Orphanet,57,Exact +GARD:0000600,UMLS,C0272066,Exact +GARD:0000600,ICD-10,E74.0,NTBT +GARD:0000600,OMIM,611881,Exact +GARD:0000602,Orphanet,1164,Exact +GARD:0000602,ICD-10,B44.1+,NTBT +GARD:0000602,MedDRA,10006474,Exact +GARD:0000602,ICD-10,J99.8*,NTBT +GARD:0000602,UMLS,C0004031,Exact +GARD:0000602,MeSH,D001229,Exact +GARD:0000602,OMIM,103920,BTNT +GARD:0000602,SNOMED-CT,37981002,NA +GARD:0000604,SNOMED-CT,719518004,NA +GARD:0000604,Orphanet,1010,Exact +GARD:0000604,OMIM,104100,Exact +GARD:0000604,UMLS,C1863093,Exact +GARD:0000604,ICD-10,Q82.8,NTBT +GARD:0000605,Orphanet,1005,Exact +GARD:0000605,MeSH,C537051,Exact +GARD:0000605,UMLS,C0795895,Exact +GARD:0000605,ICD-10,Q87.8,NTBT +GARD:0000605,OMIM,203550,Exact +GARD:0000605,SNOMED-CT,720979002,NA +GARD:0000606,Orphanet,2574,Exact +GARD:0000606,OMIM,203600,Exact +GARD:0000606,UMLS,C0265328,Exact +GARD:0000606,ICD-10,G40.4,NTBT +GARD:0000606,SNOMED-CT,788417006,NA +GARD:0000607,SNOMED-CT,720980004,NA +GARD:0000607,Orphanet,1008,Exact +GARD:0000607,UMLS,C1863090,Exact +GARD:0000607,ICD-10,Q87.8,NTBT +GARD:0000607,OMIM,104130,Exact +GARD:0000607,MeSH,C537057,Exact +GARD:0000612,Orphanet,2850,Exact +GARD:0000612,OMIM,613930,BTNT +GARD:0000612,OMIM,203650,Exact +GARD:0000612,OMIM,618840,BTNT +GARD:0000612,OMIM,610422,BTNT +GARD:0000612,ICD-10,Q87.8,NTBT +GARD:0000612,UMLS,C2931280,Exact +GARD:0000612,SNOMED-CT,716191002,NA +GARD:0000613,Orphanet,700,Exact +GARD:0000613,ICD-10,L63.0,Exact +GARD:0000613,OMIM,104000,NTBT +GARD:0000613,MedDRA,10001766,Exact +GARD:0000613,UMLS,C0263504,Exact +GARD:0000613,ICD-11,ED70.21,Exact +GARD:0000613,OMIM,610753,BTNT +GARD:0000613,OMIM,300042,BTNT +GARD:0000613,SNOMED-CT,19754005,NA +GARD:0000614,SNOMED-CT,86166000,NA +GARD:0000614,Orphanet,701,Exact +GARD:0000614,MeSH,C537055,Exact +GARD:0000614,OMIM,610753,BTNT +GARD:0000614,OMIM,104000,NTBT +GARD:0000614,OMIM,203655,BTNT +GARD:0000614,UMLS,C0263505,Exact +GARD:0000614,ICD-10,L63.1,Exact +GARD:0000614,ICD-11,ED70.2Y,NTBT +GARD:0000614,MedDRA,10001767,Exact +GARD:0000617,Orphanet,31,Exact +GARD:0000617,ICD-10,E88.8,NTBT +GARD:0000617,MeSH,C536582,Exact +GARD:0000617,UMLS,C2752074,Exact +GARD:0000617,OMIM,203740,Exact +GARD:0000617,SNOMED-CT,733630004,NA +GARD:0000621,Orphanet,846,Exact +GARD:0000621,MedDRA,10043390,Exact +GARD:0000621,SNOMED-CT,68913001,NA +GARD:0000621,ICD-10,D56.0,Exact +GARD:0000621,UMLS,C0002312,Exact +GARD:0000621,OMIM,604131,Exact +GARD:0000621,ICD-11,3A50.0,Exact +GARD:0000621,MeSH,D017085,Exact +GARD:0000621,UMLS,C1456873,Exact +GARD:0000624,Orphanet,88918,Exact +GARD:0000624,SNOMED-CT,717766000,NA +GARD:0000624,ICD-10,Q87.8,NTBT +GARD:0000624,UMLS,C1567743,Exact +GARD:0000624,OMIM,104200,Exact +GARD:0000624,UMLS,C2931253,Exact +GARD:0000624,MeSH,C536586,Exact +GARD:0000625,Orphanet,88919,Exact +GARD:0000625,ICD-10,Q87.8,NTBT +GARD:0000625,MedDRA,10001843,Exact +GARD:0000625,OMIM,203780,Exact +GARD:0000625,SNOMED-CT,717767009,NA +GARD:0000625,MeSH,C536587,Exact +GARD:0000625,UMLS,C2931254,Exact +GARD:0000625,UMLS,C1567744,Exact +GARD:0000634,Orphanet,65,Exact +GARD:0000634,UMLS,C0339527,Exact +GARD:0000634,OMIM,613826,BTNT +GARD:0000634,OMIM,615360,BTNT +GARD:0000634,OMIM,608553,BTNT +GARD:0000634,OMIM,613835,BTNT +GARD:0000634,OMIM,618513,BTNT +GARD:0000634,ICD-10,H35.5,NTBT +GARD:0000634,OMIM,179900,BTNT +GARD:0000634,OMIM,204100,BTNT +GARD:0000634,OMIM,613829,BTNT +GARD:0000634,OMIM,610612,BTNT +GARD:0000634,OMIM,604393,BTNT +GARD:0000634,OMIM,613843,BTNT +GARD:0000634,OMIM,613341,BTNT +GARD:0000634,OMIM,614186,BTNT +GARD:0000634,OMIM,604537,BTNT +GARD:0000634,MeSH,D057130,Exact +GARD:0000634,OMIM,611755,BTNT +GARD:0000634,OMIM,604232,BTNT +GARD:0000634,OMIM,612712,BTNT +GARD:0000634,MedDRA,10070667,Exact +GARD:0000634,OMIM,613837,BTNT +GARD:0000634,OMIM,204000,Exact +GARD:0000634,SNOMED-CT,193413001,NA +GARD:0000635,OMIM,204000,Exact +GARD:0000635,DiseaseOntology,110078,NA +GARD:0000635,UMLS,C2931258,NA +GARD:0000636,OMIM,204100,Exact +GARD:0000636,UMLS,C1859844,NA +GARD:0000636,DiseaseOntology,110016,NA +GARD:0000637,SNOMED-CT,720983002,NA +GARD:0000637,Orphanet,1021,Exact +GARD:0000637,ICD-10,H35.5,NTBT +GARD:0000637,MeSH,C536604,Exact +GARD:0000637,OMIM,204110,Exact +GARD:0000637,UMLS,C1857588,Exact +GARD:0000640,Orphanet,3319,Exact +GARD:0000640,MeSH,C535982,Exact +GARD:0000640,ICD-10,D61.0,NTBT +GARD:0000640,SNOMED-CT,716336002,NA +GARD:0000640,UMLS,C1327915,Exact +GARD:0000640,OMIM,604498,Exact +GARD:0000645,Orphanet,100031,Exact +GARD:0000645,ICD-10,K00.5,NTBT +GARD:0000645,OMIM,301201,BTNT +GARD:0000645,SNOMED-CT,109476006,NA +GARD:0000645,OMIM,104500,BTNT +GARD:0000645,OMIM,104530,BTNT +GARD:0000645,OMIM,204650,BTNT +GARD:0000645,UMLS,C0399367,Exact +GARD:0000645,OMIM,616221,BTNT +GARD:0000645,OMIM,617297,BTNT +GARD:0000645,OMIM,616270,BTNT +GARD:0000646,Orphanet,1031,Exact +GARD:0000646,UMLS,C0403549,Exact +GARD:0000646,UMLS,C2931783,Exact +GARD:0000646,MeSH,C538241,Exact +GARD:0000646,ICD-10,K00.5,NTBT +GARD:0000646,OMIM,204690,Exact +GARD:0000646,SNOMED-CT,109477002,NA +GARD:0000647,Orphanet,1028,Exact +GARD:0000647,MeSH,C538245,Exact +GARD:0000647,ICD-10,Q82.4,NTBT +GARD:0000647,OMIM,104570,Exact +GARD:0000647,UMLS,C1863006,Exact +GARD:0000647,SNOMED-CT,715404000,NA +GARD:0000654,SNOMED-CT,784373007,NA +GARD:0000654,Orphanet,1035,Exact +GARD:0000654,UMLS,C0796055,Exact +GARD:0000654,OMIM,249650,Exact +GARD:0000654,ICD-10,E72.1,NTBT +GARD:0000664,Orphanet,142,Exact +GARD:0000664,MedDRA,10002240,Exact +GARD:0000664,MeSH,C536910,Exact +GARD:0000664,ICD-10,C73,NTBT +GARD:0000664,UMLS,C0238461,Exact +GARD:0000664,SNOMED-CT,255031003,NA +GARD:0000668,SNOMED-CT,719816006,NA +GARD:0000668,Orphanet,2802,Exact +GARD:0000668,ICD-10,D64.0,NTBT +GARD:0000668,UMLS,C1845028,Exact +GARD:0000668,OMIM,301310,Exact +GARD:0000670,Orphanet,1054,Exact +GARD:0000670,ICD-11,LA8A.4,Exact +GARD:0000670,ICD-10,Q25.4,NTBT +GARD:0000670,SNOMED-CT,54160000,NA +GARD:0000671,Orphanet,63442,Exact +GARD:0000671,OMIM,105835,Exact +GARD:0000671,ICD-10,Q78.8,NTBT +GARD:0000671,MedDRA,10066017,Exact +GARD:0000671,UMLS,C1739384,Exact +GARD:0000671,SNOMED-CT,720984008,NA +GARD:0000676,Orphanet,1062,Exact +GARD:0000676,MeSH,C536364,Exact +GARD:0000676,ICD-10,D18.0,NTBT +GARD:0000676,OMIM,106070,Exact +GARD:0000676,UMLS,C1275084,Exact +GARD:0000676,SNOMED-CT,403775003,NA +GARD:0000683,Orphanet,74,Exact +GARD:0000683,ICD-10,B81.3,BTNT +GARD:0000683,MeSH,C536369,Exact +GARD:0000683,MedDRA,10069517,Exact +GARD:0000683,ICD-10,B83.2,BTNT +GARD:0000683,UMLS,C0392662,Exact +GARD:0000683,SNOMED-CT,61750000,NA +GARD:0000685,Orphanet,1069,Exact +GARD:0000685,OMIM,106220,Exact +GARD:0000685,ICD-10,Q87.8,NTBT +GARD:0000685,UMLS,C1862868,Exact +GARD:0000685,SNOMED-CT,720467005,NA +GARD:0000689,Orphanet,1067,Exact +GARD:0000689,ICD-10,Q13.1,NTBT +GARD:0000689,SNOMED-CT,720987001,NA +GARD:0000690,Orphanet,1064,Exact +GARD:0000690,SNOMED-CT,733116005,NA +GARD:0000690,ICD-10,Q87.8,NTBT +GARD:0000690,MeSH,C536371,Exact +GARD:0000690,OMIM,206750,Exact +GARD:0000690,UMLS,C1859782,Exact +GARD:0000693,Orphanet,1070,Exact +GARD:0000693,ICD-11,1F61,Exact +GARD:0000693,UMLS,C2711591,Exact +GARD:0000693,MeSH,D017129,Exact +GARD:0000693,ICD-10,B81.0,Exact +GARD:0000693,MedDRA,10002533,Exact +GARD:0000693,UMLS,C0162576,Exact +GARD:0000693,SNOMED-CT,442652006,NA +GARD:0000696,SNOMED-CT,783204009,NA +GARD:0000696,Orphanet,1072,Exact +GARD:0000696,OMIM,106250,Exact +GARD:0000696,ICD-10,Q87.0,NTBT +GARD:0000696,UMLS,C1302999,Exact +GARD:0000696,MeSH,C536373,Exact +GARD:0000696,UMLS,C1862866,Exact +GARD:0000697,SNOMED-CT,773770009,NA +GARD:0000697,Orphanet,1074,Exact +GARD:0000697,ICD-10,Q87.8,NTBT +GARD:0000701,Orphanet,1077,Exact +GARD:0000701,MeSH,D020254,Exact +GARD:0000701,ICD-11,DA07.61,Exact +GARD:0000701,MedDRA,10044019,Exact +GARD:0000701,ICD-10,K03.5,Exact +GARD:0000701,UMLS,C2931182,Exact +GARD:0000701,UMLS,C0155930,Exact +GARD:0000701,SNOMED-CT,14901003,NA +GARD:0000705,Orphanet,675,Exact +GARD:0000705,ICD-10,Q45.1,NTBT +GARD:0000705,MedDRA,10071757,Exact +GARD:0000705,OMIM,167750,Exact +GARD:0000705,UMLS,C0149955,Exact +GARD:0000705,ICD-11,LB21.0,Exact +GARD:0000705,MeSH,C536376,Exact +GARD:0000705,SNOMED-CT,40315008,NA +GARD:0000710,Orphanet,90390,Exact +GARD:0000710,OMIM,614149,BTNT +GARD:0000710,UMLS,C1862840,Exact +GARD:0000710,OMIM,107000,BTNT +GARD:0000710,MeSH,C536378,Exact +GARD:0000710,ICD-10,Q84.3,NTBT +GARD:0000713,Orphanet,2470,Exact +GARD:0000713,UMLS,C1832661,Exact +GARD:0000713,OMIM,615524,BTNT +GARD:0000713,ICD-10,Q11.2,NTBT +GARD:0000713,OMIM,601186,Exact +GARD:0000713,SNOMED-CT,722458000,NA +GARD:0000717,Orphanet,1101,Exact +GARD:0000717,ICD-10,Q87.8,NTBT +GARD:0000717,SNOMED-CT,720495005,NA +GARD:0000719,SNOMED-CT,720496006,NA +GARD:0000719,Orphanet,1104,Exact +GARD:0000719,MeSH,C537767,Exact +GARD:0000719,ICD-10,Q87.8,NTBT +GARD:0000719,OMIM,600776,Exact +GARD:0000719,UMLS,C1833339,Exact +GARD:0000722,Orphanet,1106,Exact +GARD:0000722,UMLS,C0599973,Exact +GARD:0000722,OMIM,206920,Exact +GARD:0000722,ICD-10,Q87.2,NTBT +GARD:0000722,SNOMED-CT,703403003,NA +GARD:0000730,Orphanet,2194,Exact +GARD:0000730,SNOMED-CT,720497002,NA +GARD:0000731,Orphanet,79,Exact +GARD:0000731,ICD-11,3B50.0,Exact +GARD:0000731,ICD-10,D68.8,NTBT +GARD:0000731,OMIM,262850,Exact +GARD:0000731,SNOMED-CT,716746003,NA +GARD:0000735,SNOMED-CT,445187004,NA +GARD:0000735,Orphanet,81,Exact +GARD:0000735,UMLS,C2609059,Exact +GARD:0000735,MeSH,C537778,Exact +GARD:0000735,MedDRA,10068801,Exact +GARD:0000735,ICD-10,M35.8,NTBT +GARD:0000738,Orphanet,2037,Exact +GARD:0000738,MeSH,C537782,Exact +GARD:0000738,ICD-10,Q21.4,Exact +GARD:0000738,UMLS,C2931610,Exact +GARD:0000738,ICD-11,LA8B.0,Exact +GARD:0000738,SNOMED-CT,17024001,NA +GARD:0000739,Orphanet,1110,Exact +GARD:0000739,MeSH,C537785,Exact +GARD:0000739,ICD-10,Q87.8,NTBT +GARD:0000739,OMIM,107500,Exact +GARD:0000739,UMLS,C1862682,Exact +GARD:0000739,SNOMED-CT,763615003,NA +GARD:0000740,Orphanet,2299,Exact +GARD:0000740,ICD-11,LA8B.22,Exact +GARD:0000740,UMLS,C0152419,Exact +GARD:0000740,MedDRA,10022599,Exact +GARD:0000740,ICD-10,Q25.4,NTBT +GARD:0000740,SNOMED-CT,218728005,NA +GARD:0000741,Orphanet,1132,Exact +GARD:0000741,ICD-10,Q25.4,NTBT +GARD:0000743,Orphanet,3193,Exact +GARD:0000743,UMLS,C0003499,Exact +GARD:0000743,UMLS,C1305147,Exact +GARD:0000743,ICD-10,Q25.3,NTBT +GARD:0000743,MedDRA,10042598,Exact +GARD:0000743,ICD-11,LA8A.3,Exact +GARD:0000743,OMIM,185500,Exact +GARD:0000743,MeSH,D021921,Exact +GARD:0000743,SNOMED-CT,7169009,NA +GARD:0000748,SNOMED-CT,720498007,NA +GARD:0000748,Orphanet,1113,Exact +GARD:0000748,UMLS,C1838161,Exact +GARD:0000748,OMIM,600384,Exact +GARD:0000748,ICD-10,Q87.2,NTBT +GARD:0000753,SNOMED-CT,720500008,NA +GARD:0000753,Orphanet,1116,Exact +GARD:0000753,MeSH,C537788,Exact +GARD:0000753,ICD-10,Q84.8,NTBT +GARD:0000753,OMIM,207731,Exact +GARD:0000753,UMLS,C1859753,Exact +GARD:0000756,Orphanet,1117,Exact +GARD:0000756,UMLS,C1832826,Exact +GARD:0000756,ICD-10,Q84.8,NTBT +GARD:0000756,OMIM,601075,Exact +GARD:0000756,SNOMED-CT,720499004,NA +GARD:0000759,Orphanet,309020,Exact +GARD:0000759,ICD-10,E78.3,NTBT +GARD:0000759,OMIM,207750,Exact +GARD:0000759,UMLS,C1720779,Exact +GARD:0000759,UMLS,C0268199,Exact +GARD:0000759,SNOMED-CT,33513003,NA +GARD:0000764,Orphanet,1130,Exact +GARD:0000764,ICD-10,Q87.8,NTBT +GARD:0000764,SNOMED-CT,720502000,NA +GARD:0000770,Orphanet,35708,Exact +GARD:0000770,UMLS,C1291564,Exact +GARD:0000770,ICD-10,G24.8,NTBT +GARD:0000770,UMLS,C0342686,Exact +GARD:0000770,OMIM,608643,Exact +GARD:0000770,SNOMED-CT,124600004,NA +GARD:0000774,Orphanet,3342,Exact +GARD:0000774,OMIM,208050,Exact +GARD:0000774,ICD-10,I77.1,NTBT +GARD:0000774,UMLS,C1859726,Exact +GARD:0000774,SNOMED-CT,458432002,NA +GARD:0000777,Orphanet,1037,Exact +GARD:0000777,ICD-11,LD26.41,Exact +GARD:0000777,ICD-10,Q74.3,Exact +GARD:0000777,UMLS,C2931264,Exact +GARD:0000777,MedDRA,10051643,Exact +GARD:0000777,MeSH,C536613,Exact +GARD:0000777,SNOMED-CT,77016009,NA +GARD:0000784,Orphanet,1144,Exact +GARD:0000784,ICD-10,Q68.8,NTBT +GARD:0000784,OMIM,108200,Exact +GARD:0000784,UMLS,C1862471,Exact +GARD:0000784,MeSH,C535386,Exact +GARD:0000784,SNOMED-CT,720515009,NA +GARD:0000786,Orphanet,97120,Exact +GARD:0000786,UMLS,C0265213,Exact +GARD:0000786,ICD-10,Q68.8,NTBT +GARD:0000786,SNOMED-CT,24269006,NA +GARD:0000787,Orphanet,1146,Exact +GARD:0000787,OMIM,614335,BTNT +GARD:0000787,UMLS,C1852085,Exact +GARD:0000787,ICD-10,Q68.8,NTBT +GARD:0000787,UMLS,C0220662,Exact +GARD:0000787,OMIM,618435,BTNT +GARD:0000787,OMIM,108120,Exact +GARD:0000787,OMIM,126050,BTNT +GARD:0000787,OMIM,619110,BTNT +GARD:0000787,SNOMED-CT,715314008,NA +GARD:0000790,Orphanet,1143,Exact +GARD:0000790,ICD-10,Q74.3,NTBT +GARD:0000790,UMLS,C1859721,Exact +GARD:0000790,MeSH,C536614,Exact +GARD:0000790,OMIM,208100,Exact +GARD:0000790,SNOMED-CT,715316005,NA +GARD:0000792,SNOMED-CT,720514008,NA +GARD:0000792,Orphanet,1150,Exact +GARD:0000792,UMLS,C1859711,Exact +GARD:0000792,OMIM,208155,Exact +GARD:0000792,MeSH,C538401,Exact +GARD:0000792,ICD-10,Q87.8,NTBT +GARD:0000794,SNOMED-CT,720513002,NA +GARD:0000794,Orphanet,2697,Exact +GARD:0000794,MeSH,C535382,Exact +GARD:0000794,OMIM,613404,BTNT +GARD:0000794,UMLS,C1859722,Exact +GARD:0000794,OMIM,208085,BTNT +GARD:0000794,ICD-10,Q89.7,NTBT +GARD:0000802,Orphanet,98722,Exact +GARD:0000802,ICD-10,Q21.2,Exact +GARD:0000802,ICD-11,LA87.4,Exact +GARD:0000802,OMIM,614474,BTNT +GARD:0000802,OMIM,600309,BTNT +GARD:0000802,OMIM,606215,Exact +GARD:0000802,OMIM,615779,BTNT +GARD:0000802,OMIM,614430,BTNT +GARD:0000802,OMIM,606217,BTNT +GARD:0000802,UMLS,C1389016,Exact +GARD:0000802,UMLS,C1389018,Exact +GARD:0000804,SNOMED-CT,31742004,NA +GARD:0000804,Orphanet,52,Exact +GARD:0000804,UMLS,C0085280,Exact +GARD:0000804,OMIM,118450,Exact +GARD:0000804,ICD-10,Q44.7,NTBT +GARD:0000804,MeSH,D016738,Exact +GARD:0000804,MedDRA,10053870,Exact +GARD:0000804,OMIM,610205,BTNT +GARD:0000806,Orphanet,2819,Exact +GARD:0000806,UMLS,C2931617,Exact +GARD:0000806,ICD-10,G11.4,NTBT +GARD:0000806,SNOMED-CT,763403007,NA +GARD:0000809,Orphanet,1223,Exact +GARD:0000809,ICD-10,A07.0,Exact +GARD:0000809,MeSH,D001447,Exact +GARD:0000809,UMLS,C0004692,Exact +GARD:0000809,MeSH,C531629,Exact +GARD:0000809,MedDRA,10004080,Exact +GARD:0000809,UMLS,C0276786,Exact +GARD:0000809,SNOMED-CT,57725006,NA +GARD:0000812,Orphanet,1227,Exact +GARD:0000812,UMLS,C0342284,Exact +GARD:0000812,MeSH,C537902,Exact +GARD:0000812,OMIM,210740,Exact +GARD:0000812,ICD-10,E31.8,NTBT +GARD:0000812,SNOMED-CT,237614004,NA +GARD:0000813,Orphanet,1228,Exact +GARD:0000813,OMIM,109300,Exact +GARD:0000813,ICD-10,Q68.1,NTBT +GARD:0000813,UMLS,C1862319,Exact +GARD:0000813,SNOMED-CT,733093004,NA +GARD:0000816,Orphanet,2753,Exact +GARD:0000816,OMIM,258860,Exact +GARD:0000816,UMLS,C0406727,Exact +GARD:0000816,ICD-10,Q87.0,NTBT +GARD:0000816,SNOMED-CT,239031000,NA +GARD:0000819,Orphanet,1231,Exact +GARD:0000819,ICD-10,Q87.0,NTBT +GARD:0000819,SNOMED-CT,408537003,NA +GARD:0000819,OMIM,209885,Exact +GARD:0000819,MeSH,C537908,Exact +GARD:0000819,UMLS,C1319466,Exact +GARD:0000820,OMIM,209900,Exact +GARD:0000820,Orphanet,110,NTBT +GARD:0000820,GeneticAlliance,723,NA +GARD:0000820,DiseaseOntology,110123,NA +GARD:0000820,UMLS,C2936862,NA +GARD:0000820,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome,NA +GARD:0000821,OMIM,615981,Exact +GARD:0000821,Orphanet,110,NTBT +GARD:0000821,UMLS,C2936863,NA +GARD:0000821,DiseaseOntology,110124,NA +GARD:0000822,OMIM,600151,Exact +GARD:0000822,UMLS,C1859564,NA +GARD:0000822,DiseaseOntology,110125,NA +GARD:0000823,OMIM,615982,Exact +GARD:0000823,DiseaseOntology,110126,NA +GARD:0000823,UMLS,C2936864,NA +GARD:0000824,Orphanet,572,Exact +GARD:0000824,ICD-10,D81.7,Exact +GARD:0000824,OMIM,209920,Exact +GARD:0000824,ICD-11,4A01.12,Exact +GARD:0000824,UMLS,C2931418,Exact +GARD:0000824,SNOMED-CT,71904008,NA +GARD:0000826,Orphanet,1826,Exact +GARD:0000826,OMIM,617137,BTNT +GARD:0000826,UMLS,C0265293,Exact +GARD:0000826,SNOMED-CT,62803002,NA +GARD:0000826,MeSH,C538064,Exact +GARD:0000826,ICD-10,Q78.5,NTBT +GARD:0000826,OMIM,305620,BTNT +GARD:0000835,SNOMED-CT,715429006,NA +GARD:0000835,Orphanet,1875,Exact +GARD:0000835,ICD-10,G71.0,NTBT +GARD:0000835,UMLS,C2931578,Exact +GARD:0000835,UMLS,C1850864,Exact +GARD:0000835,OMIM,254000,Exact +GARD:0000836,Orphanet,1948,Exact +GARD:0000836,ICD-10,Q87.8,NTBT +GARD:0000836,UMLS,C2931579,Exact +GARD:0000836,OMIM,601352,Exact +GARD:0000836,MeSH,C537662,Exact +GARD:0000836,SNOMED-CT,733031004,NA +GARD:0000838,Orphanet,113,Exact +GARD:0000838,ICD-10,L98.8,NTBT +GARD:0000838,MeSH,C537663,Exact +GARD:0000838,UMLS,C0346104,Exact +GARD:0000838,OMIM,301845,Exact +GARD:0000838,SNOMED-CT,254820002,NA +GARD:0000842,Orphanet,2206,Exact +GARD:0000842,OMIM,106400,Exact +GARD:0000842,ICD-10,M48.1,NTBT +GARD:0000842,SNOMED-CT,720492008,NA +GARD:0000844,OMIM,255700,Exact +GARD:0000844,Orphanet,614,NTBT +GARD:0000844,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/myotonia-congenita,NA +GARD:0000844,DiseaseOntology,2106,NA +GARD:0000844,ICD-10-CM,G71.12,NA +GARD:0000844,SNOMED-CT,20305008,NA +GARD:0000844,UMLS,C0751360,NA +GARD:0000846,SNOMED-CT,717859007,NA +GARD:0000846,Orphanet,1237,Exact +GARD:0000846,UMLS,C1859526,Exact +GARD:0000846,MeSH,C537668,Exact +GARD:0000846,ICD-10,Q87.8,NTBT +GARD:0000846,OMIM,209970,Exact +GARD:0000848,Orphanet,117,Exact +GARD:0000848,ICD-10,M35.2,Exact +GARD:0000848,UMLS,C0004943,Exact +GARD:0000848,MedDRA,10004213,Exact +GARD:0000848,SNOMED-CT,310701003,NA +GARD:0000848,MeSH,D001528,Exact +GARD:0000848,OMIM,109650,Exact +GARD:0000848,ICD-11,4A62,Exact +GARD:0000853,Orphanet,100978,Exact +GARD:0000853,ICD-10,Q87.5,NTBT +GARD:0000853,SNOMED-CT,783181006,NA +GARD:0000856,OMIM,601764,Exact +GARD:0000856,Orphanet,306,NTBT +GARD:0000856,DiseaseOntology,60169,NA +GARD:0000856,UMLS,C4551769,NA +GARD:0000857,Orphanet,306,Exact +GARD:0000857,ICD-11,8A61.10,Exact +GARD:0000857,OMIM,601764,Exact +GARD:0000857,OMIM,617080,BTNT +GARD:0000857,OMIM,607745,BTNT +GARD:0000857,UMLS,C0220669,Exact +GARD:0000857,OMIM,605751,BTNT +GARD:0000857,ICD-10,G40.3,NTBT +GARD:0000857,OMIM,612627,BTNT +GARD:0000860,SNOMED-CT,764950001,NA +GARD:0000860,Orphanet,1548,Exact +GARD:0000860,ICD-10,Q87.8,NTBT +GARD:0000867,SNOMED-CT,18121009,NA +GARD:0000867,Orphanet,133,Exact +GARD:0000867,UMLS,C0221052,Exact +GARD:0000867,UMLS,C0005138,Exact +GARD:0000867,MedDRA,10004485,Exact +GARD:0000867,MeSH,D001607,Exact +GARD:0000867,ICD-11,CA60.6,Exact +GARD:0000867,ICD-10,J63.2,Exact +GARD:0000869,Orphanet,118,Exact +GARD:0000869,ICD-10,E77.1,NTBT +GARD:0000869,OMIM,248510,Exact +GARD:0000869,MeSH,D044905,Exact +GARD:0000869,UMLS,C2931893,Exact +GARD:0000869,SNOMED-CT,238047006,NA +GARD:0000869,UMLS,C0342849,Exact +GARD:0000871,Orphanet,848,Exact +GARD:0000871,ICD-10,D56.1,Exact +GARD:0000871,OMIM,603902,BTNT +GARD:0000871,MeSH,D017086,Exact +GARD:0000871,UMLS,C0005283,Exact +GARD:0000871,OMIM,613985,BTNT +GARD:0000871,ICD-11,3A50.2,Exact +GARD:0000871,MedDRA,10043391,Exact +GARD:0000871,SNOMED-CT,65959000,NA +GARD:0000872,Orphanet,134,Exact +GARD:0000872,ICD-10,E71.1,NTBT +GARD:0000872,OMIM,203750,Exact +GARD:0000872,UMLS,C1536500,Exact +GARD:0000873,SNOMED-CT,718572004,NA +GARD:0000873,Orphanet,610,Exact +GARD:0000873,ICD-10,G71.0,NTBT +GARD:0000873,OMIM,158810,Exact +GARD:0000873,OMIM,616471,BTNT +GARD:0000873,MeSH,C535436,Exact +GARD:0000873,UMLS,C1834674,Exact +GARD:0000882,SNOMED-CT,717887003,NA +GARD:0000882,Orphanet,141333,Exact +GARD:0000882,OMIM,210350,Exact +GARD:0000882,UMLS,C2930903,Exact +GARD:0000882,UMLS,C1859487,Exact +GARD:0000884,SNOMED-CT,787413007,NA +GARD:0000884,Orphanet,2695,Exact +GARD:0000884,OMIM,109740,BTNT +GARD:0000884,UMLS,C0221363,Exact +GARD:0000884,MeSH,C535441,Exact +GARD:0000884,ICD-10,Q30.2,NTBT +GARD:0000884,OMIM,210400,BTNT +GARD:0000884,ICD-11,LA70.1,Exact +GARD:0000893,SNOMED-CT,723336008,NA +GARD:0000893,Orphanet,3304,Exact +GARD:0000893,OMIM,601127,Exact +GARD:0000893,UMLS,C1832735,Exact +GARD:0000893,ICD-10,Q87.8,NTBT +GARD:0000894,SNOMED-CT,8808004,NA +GARD:0000894,Orphanet,79241,Exact +GARD:0000894,ICD-10,E53.8,NTBT +GARD:0000894,UMLS,C1854698,Exact +GARD:0000894,OMIM,253260,Exact +GARD:0000894,MeSH,D028921,Exact +GARD:0000894,MedDRA,10071434,Exact +GARD:0000894,UMLS,C0220754,Exact +GARD:0000895,Orphanet,2617,Exact +GARD:0000895,ICD-10,Q87.1,NTBT +GARD:0000895,MeSH,C535448,Exact +GARD:0000895,UMLS,C1859468,Exact +GARD:0000895,OMIM,210700,Exact +GARD:0000895,SNOMED-CT,765758008,NA +GARD:0000897,Orphanet,2213,Exact +GARD:0000897,UMLS,C0220742,Exact +GARD:0000897,ICD-10,Q87.0,NTBT +GARD:0000897,OMIM,239800,Exact +GARD:0000897,SNOMED-CT,721836009,NA +GARD:0000905,SNOMED-CT,717914000,NA +GARD:0000905,Orphanet,2057,Exact +GARD:0000905,OMIM,210745,Exact +GARD:0000905,UMLS,C1859432,Exact +GARD:0000905,ICD-10,Q87.8,NTBT +GARD:0000912,SNOMED-CT,717915004,NA +GARD:0000912,Orphanet,1259,Exact +GARD:0000912,UMLS,C1862259,Exact +GARD:0000912,MeSH,C536236,Exact +GARD:0000912,ICD-10,Q15.8,NTBT +GARD:0000912,OMIM,110150,Exact +GARD:0000914,Orphanet,50945,Exact +GARD:0000914,MeSH,C537914,Exact +GARD:0000914,SNOMED-CT,389237009,NA +GARD:0000914,OMIM,215045,Exact +GARD:0000914,ICD-10,Q78.8,NTBT +GARD:0000914,UMLS,C1859148,Exact +GARD:0000915,SNOMED-CT,4434006,NA +GARD:0000915,Orphanet,125,Exact +GARD:0000915,MeSH,D001816,Exact +GARD:0000915,UMLS,C0005859,Exact +GARD:0000915,ICD-10,Q82.2,NTBT +GARD:0000915,OMIM,210900,Exact +GARD:0000916,Orphanet,2768,Exact +GARD:0000916,MeSH,C536237,Exact +GARD:0000916,SNOMED-CT,880067009,NA +GARD:0000916,ICD-10,M92.5,NTBT +GARD:0000916,UMLS,C0175756,Exact +GARD:0000916,MedDRA,10072255,Exact +GARD:0000916,OMIM,259200,BTNT +GARD:0000916,OMIM,188700,BTNT +GARD:0000917,Orphanet,16,Exact +GARD:0000917,MeSH,C536238,Exact +GARD:0000917,UMLS,C0339537,Exact +GARD:0000917,OMIM,303700,Exact +GARD:0000917,UMLS,C2931753,Exact +GARD:0000917,MeSH,C538165,Exact +GARD:0000917,ICD-10,H53.5,NTBT +GARD:0000917,SNOMED-CT,789676005,NA +GARD:0000918,Orphanet,1292,Exact +GARD:0000918,SNOMED-CT,720573009,NA +GARD:0000918,MeSH,C536242,Exact +GARD:0000918,ICD-10,Q87.1,NTBT +GARD:0000918,OMIM,113477,Exact +GARD:0000918,UMLS,C1862082,Exact +GARD:0000922,Orphanet,1842,Exact +GARD:0000922,OMIM,211120,Exact +GARD:0000922,ICD-10,Q77.8,NTBT +GARD:0000922,UMLS,C1859407,Exact +GARD:0000922,SNOMED-CT,732249002,NA +GARD:0000932,Orphanet,1262,Exact +GARD:0000932,UMLS,C0457014,Exact +GARD:0000932,ICD-10,Q82.4,NTBT +GARD:0000932,OMIM,112300,Exact +GARD:0000932,SNOMED-CT,722296002,NA +GARD:0000933,SNOMED-CT,254054000,NA +GARD:0000933,Orphanet,1263,Exact +GARD:0000933,OMIM,112310,Exact +GARD:0000933,ICD-10,Q87.1,NTBT +GARD:0000933,UMLS,C0432201,Exact +GARD:0000933,MeSH,C536573,Exact +GARD:0000936,Orphanet,127,Exact +GARD:0000936,ICD-10,Q87.8,NTBT +GARD:0000936,UMLS,C0265339,Exact +GARD:0000936,MeSH,C536575,Exact +GARD:0000936,SNOMED-CT,21634003,NA +GARD:0000936,OMIM,301900,Exact +GARD:0000938,Orphanet,1264,Exact +GARD:0000938,UMLS,C1860605,Exact +GARD:0000938,OMIM,191482,Exact +GARD:0000938,ICD-10,Q82.4,NTBT +GARD:0000938,SNOMED-CT,719910004,NA +GARD:0000942,Orphanet,128,Exact +GARD:0000942,ICD-10,B70.0,Exact +GARD:0000942,ICD-11,1F71,Exact +GARD:0000942,MedDRA,10013029,Exact +GARD:0000942,UMLS,C0277032,Exact +GARD:0000942,UMLS,C0012561,Exact +GARD:0000942,SNOMED-CT,187151009,NA +GARD:0000943,Orphanet,1267,Exact +GARD:0000943,MeSH,D001906,Exact +GARD:0000943,ICD-11,1A11,Exact +GARD:0000943,MedDRA,10006041,Exact +GARD:0000943,UMLS,C0006057,Exact +GARD:0000943,ICD-10,A05.1,Exact +GARD:0000943,SNOMED-CT,398565003,NA +GARD:0000944,Orphanet,1180,Exact +GARD:0000944,ICD-10,G11.8,NTBT +GARD:0000944,OMIM,215470,Exact +GARD:0000944,UMLS,C1859093,Exact +GARD:0000944,SNOMED-CT,715984007,NA +GARD:0000953,Orphanet,2292,Exact +GARD:0000953,OMIM,264050,BTNT +GARD:0000953,ICD-10,Q68.8,BTNT +GARD:0000953,ICD-10,Q68.3,BTNT +GARD:0000953,OMIM,211355,Exact +GARD:0000953,ICD-10,Q68.5,BTNT +GARD:0000953,MedDRA,10054064,Exact +GARD:0000953,ICD-10,Q68.4,BTNT +GARD:0000953,UMLS,C1096546,Exact +GARD:0000953,SNOMED-CT,716098006,NA +GARD:0000955,Orphanet,1299,Exact +GARD:0000955,UMLS,C1859384,Exact +GARD:0000955,SNOMED-CT,719097002,NA +GARD:0000955,OMIM,211380,Exact +GARD:0000955,ICD-10,Q87.8,NTBT +GARD:0000957,SNOMED-CT,724284005,NA +GARD:0000957,Orphanet,1519,Exact +GARD:0000957,UMLS,C1840378,Exact +GARD:0000957,OMIM,145420,Exact +GARD:0000957,ICD-10,Q87.0,NTBT +GARD:0000958,SNOMED-CT,720955004,NA +GARD:0000958,Orphanet,1272,Exact +GARD:0000958,OMIM,601353,Exact +GARD:0000958,OMIM,601088,Exact +GARD:0000958,ICD-10,Q87.8,NTBT +GARD:0000958,MeSH,C537933,Exact +GARD:0000958,UMLS,C0795941,Exact +GARD:0000960,Orphanet,2619,Exact +GARD:0000960,UMLS,C2931420,Exact +GARD:0000960,OMIM,613342,Exact +GARD:0000960,ICD-10,Q77.7,NTBT +GARD:0000960,MeSH,C537086,Exact +GARD:0000960,SNOMED-CT,715470008,NA +GARD:0000966,SNOMED-CT,764437006,NA +GARD:0000966,Orphanet,1275,Exact +GARD:0000966,OMIM,186550,Exact +GARD:0000966,ICD-10,Q73.8,NTBT +GARD:0000967,SNOMED-CT,720568003,NA +GARD:0000967,Orphanet,1276,Exact +GARD:0000967,OMIM,112410,Exact +GARD:0000967,ICD-10,Q73.8,NTBT +GARD:0000967,UMLS,C1862170,Exact +GARD:0000968,Orphanet,2946,Exact +GARD:0000968,ICD-10,Q87.2,NTBT +GARD:0000968,SNOMED-CT,733454004,NA +GARD:0000968,UMLS,C1862169,Exact +GARD:0000968,OMIM,112430,Exact +GARD:0000971,Orphanet,1246,Exact +GARD:0000971,UMLS,C1862099,Exact +GARD:0000971,OMIM,113400,Exact +GARD:0000971,ICD-10,Q87.8,NTBT +GARD:0000971,SNOMED-CT,205828009,NA +GARD:0000972,Orphanet,1278,Exact +GARD:0000972,ICD-10,Q73.8,NTBT +GARD:0000972,OMIM,112450,Exact +GARD:0000972,UMLS,C1862162,Exact +GARD:0000972,SNOMED-CT,732957009,NA +GARD:0000978,Orphanet,93388,Exact +GARD:0000978,OMIM,607004,BTNT +GARD:0000978,OMIM,616849,BTNT +GARD:0000978,OMIM,112500,Exact +GARD:0000978,UMLS,C1862151,Exact +GARD:0000978,MeSH,C537088,Exact +GARD:0000978,OMIM,615072,BTNT +GARD:0000978,ICD-10,Q73.8,NTBT +GARD:0000978,SNOMED-CT,715720006,NA +GARD:0000979,Orphanet,93396,Exact +GARD:0000979,ICD-10,Q73.8,NTBT +GARD:0000979,UMLS,C1832702,Exact +GARD:0000979,OMIM,112600,Exact +GARD:0000979,MeSH,C537089,Exact +GARD:0000979,SNOMED-CT,720569006,NA +GARD:0000983,Orphanet,93382,Exact +GARD:0000983,ICD-10,Q73.8,NTBT +GARD:0000983,OMIM,112910,Exact +GARD:0000983,MeSH,C537092,Exact +GARD:0000983,UMLS,C1862130,Exact +GARD:0000983,SNOMED-CT,715722003,NA +GARD:0000984,Orphanet,93397,Exact +GARD:0000984,ICD-10,Q73.8,NTBT +GARD:0000984,SNOMED-CT,720571006,NA +GARD:0000985,SNOMED-CT,389168002,NA +GARD:0000985,Orphanet,93383,Exact +GARD:0000985,UMLS,C1300267,Exact +GARD:0000985,ICD-10,Q73.8,NTBT +GARD:0000985,OMIM,113000,BTNT +GARD:0000985,OMIM,611377,BTNT +GARD:0000986,Orphanet,93384,Exact +GARD:0000986,MeSH,C537093,Exact +GARD:0000986,OMIM,113100,Exact +GARD:0000986,UMLS,C1862103,Exact +GARD:0000986,UMLS,C1300268,Exact +GARD:0000986,ICD-10,Q73.8,NTBT +GARD:0000986,SNOMED-CT,389169005,NA +GARD:0000987,Orphanet,93387,Exact +GARD:0000987,UMLS,C0265312,Exact +GARD:0000987,OMIM,613382,BTNT +GARD:0000987,ICD-10,Q73.8,NTBT +GARD:0000987,SNOMED-CT,63711009,NA +GARD:0000987,OMIM,113300,Exact +GARD:0000990,Orphanet,93394,Exact +GARD:0000990,UMLS,C1862139,Exact +GARD:0000990,OMIM,112800,Exact +GARD:0000990,ICD-10,Q73.8,NTBT +GARD:0000990,SNOMED-CT,715721005,NA +GARD:0000992,SNOMED-CT,722061006,NA +GARD:0000992,Orphanet,2713,Exact +GARD:0000992,ICD-10,Q87.5,NTBT +GARD:0000992,UMLS,C1859385,Exact +GARD:0000992,OMIM,211370,Exact +GARD:0000994,Orphanet,263482,Exact +GARD:0000994,UMLS,C3159322,Exact +GARD:0000994,ICD-10,Q77.7,NTBT +GARD:0000994,OMIM,184095,Exact +GARD:0000994,SNOMED-CT,719204007,NA +GARD:0000995,OMIM,271530,Exact +GARD:0000995,GeneticAlliance,943,NA +GARD:0000995,DiseaseOntology,50690,NA +GARD:0000995,UMLS,C1849055,NA +GARD:0000998,SNOMED-CT,720813007,NA +GARD:0000998,Orphanet,1538,Exact +GARD:0000998,OMIM,123155,Exact +GARD:0000998,ICD-10,Q03.1,NTBT +GARD:0001002,Orphanet,1131,Exact +GARD:0001002,ICD-10,Q75.4,NTBT +GARD:0001002,UMLS,C1844918,Exact +GARD:0001002,OMIM,301950,Exact +GARD:0001002,SNOMED-CT,719813003,NA +GARD:0001017,Orphanet,666,Exact +GARD:0001017,OMIM,613982,BTNT +GARD:0001017,MedDRA,10031243,Exact +GARD:0001017,OMIM,616507,BTNT +GARD:0001017,OMIM,166210,BTNT +GARD:0001017,OMIM,610682,BTNT +GARD:0001017,UMLS,C0029434,Exact +GARD:0001017,OMIM,166200,BTNT +GARD:0001017,OMIM,610967,BTNT +GARD:0001017,OMIM,615066,BTNT +GARD:0001017,UMLS,C0268360,Exact +GARD:0001017,ICD-10,Q78.0,Exact +GARD:0001017,SNOMED-CT,78314001,NA +GARD:0001017,UMLS,C1859069,Exact +GARD:0001017,UMLS,C0023931,Exact +GARD:0001017,OMIM,610915,BTNT +GARD:0001017,OMIM,613849,BTNT +GARD:0001017,OMIM,259440,BTNT +GARD:0001017,OMIM,615220,BTNT +GARD:0001017,OMIM,166230,BTNT +GARD:0001017,ICD-11,LD24.K0,Exact +GARD:0001017,OMIM,610968,BTNT +GARD:0001017,OMIM,616229,BTNT +GARD:0001017,OMIM,613848,BTNT +GARD:0001017,OMIM,259420,BTNT +GARD:0001017,OMIM,614856,BTNT +GARD:0001017,OMIM,166220,BTNT +GARD:0001017,OMIM,619131,BTNT +GARD:0001017,MeSH,D010013,Exact +GARD:0001019,Orphanet,90354,Exact +GARD:0001019,OMIM,614170,BTNT +GARD:0001019,OMIM,229200,Exact +GARD:0001019,UMLS,C0268344,Exact +GARD:0001019,ICD-10,Q79.6,NTBT +GARD:0001019,SNOMED-CT,719096006,NA +GARD:0001025,SNOMED-CT,762195006,NA +GARD:0001025,Orphanet,2357,Exact +GARD:0001025,MedDRA,10064585,Exact +GARD:0001025,MeSH,D001994,Exact +GARD:0001025,ICD-10,J98.4,NTBT +GARD:0001025,UMLS,C0006281,Exact +GARD:0001029,Orphanet,2771,Exact +GARD:0001029,OMIM,609220,BTNT +GARD:0001029,MedDRA,10063718,Exact +GARD:0001029,UMLS,C0432253,Exact +GARD:0001029,OMIM,259450,Exact +GARD:0001029,ICD-10,M21.8,NTBT +GARD:0001029,UMLS,C1836602,Exact +GARD:0001029,UMLS,C1850168,Exact +GARD:0001029,SNOMED-CT,254113006,NA +GARD:0001030,SNOMED-CT,418818005,NA +GARD:0001030,Orphanet,130,Exact +GARD:0001030,ICD-11,BC65.1,Exact +GARD:0001030,UMLS,C1142166,Exact +GARD:0001030,MeSH,D053840,Exact +GARD:0001030,OMIM,613119,BTNT +GARD:0001030,OMIM,612838,BTNT +GARD:0001030,OMIM,611875,BTNT +GARD:0001030,ICD-10,I49.8,Exact +GARD:0001030,OMIM,613120,BTNT +GARD:0001030,OMIM,616399,BTNT +GARD:0001030,OMIM,601144,Exact +GARD:0001030,OMIM,613123,BTNT +GARD:0001030,OMIM,611876,BTNT +GARD:0001030,OMIM,611777,BTNT +GARD:0001030,MedDRA,10059027,Exact +GARD:0001030,UMLS,C1955837,Exact +GARD:0001033,SNOMED-CT,65880007,NA +GARD:0001033,Orphanet,47,Exact +GARD:0001033,OMIM,300310,BTNT +GARD:0001033,ICD-10,D80.0,NTBT +GARD:0001033,OMIM,300755,Exact +GARD:0001033,MedDRA,10060360,Exact +GARD:0001033,MeSH,C537409,Exact +GARD:0001033,UMLS,C0221026,Exact +GARD:0001037,SNOMED-CT,430904007,NA +GARD:0001037,Orphanet,2285,Exact +GARD:0001037,OMIM,109500,Exact +GARD:0001037,UMLS,C1862299,Exact +GARD:0001037,ICD-10,Q75.8,NTBT +GARD:0001038,Orphanet,1867,Exact +GARD:0001038,ICD-10,Q81.8,NTBT +GARD:0001038,UMLS,C0795974,Exact +GARD:0001038,OMIM,302000,Exact +GARD:0001038,SNOMED-CT,725589005,NA +GARD:0001039,Orphanet,312,Exact +GARD:0001039,UMLS,C0079153,Exact +GARD:0001039,ICD-10,Q80.3,Exact +GARD:0001039,OMIM,113800,Exact +GARD:0001039,ICD-11,EC20.03,NTBT +GARD:0001039,OMIM,607602,BTNT +GARD:0001039,SNOMED-CT,254167000,NA +GARD:0001044,Orphanet,1306,Exact +GARD:0001044,OMIM,166700,Exact +GARD:0001044,MeSH,C537415,Exact +GARD:0001044,ICD-10,Q78.8,NTBT +GARD:0001044,UMLS,C0265514,Exact +GARD:0001044,SNOMED-CT,60399005,NA +GARD:0001049,Orphanet,136,Exact +GARD:0001049,ICD-10,I67.8,NTBT +GARD:0001049,MeSH,D046589,Exact +GARD:0001049,MedDRA,10065551,Exact +GARD:0001049,OMIM,125310,Exact +GARD:0001049,SNOMED-CT,390936003,NA +GARD:0001049,ICD-11,8B22.C0,Exact +GARD:0001049,UMLS,C0751587,Exact +GARD:0001051,Orphanet,1310,Exact +GARD:0001051,UMLS,C0020497,Exact +GARD:0001051,OMIM,114000,Exact +GARD:0001051,ICD-10,M89.8,NTBT +GARD:0001051,SNOMED-CT,24752008,NA +GARD:0001052,Orphanet,1375,Exact +GARD:0001052,UMLS,C0796282,Exact +GARD:0001052,OMIM,211770,Exact +GARD:0001052,ICD-10,Q87.8,NTBT +GARD:0001052,SNOMED-CT,722379001,NA +GARD:0001053,Orphanet,220402,Exact +GARD:0001053,OMIM,181750,NTBT +GARD:0001053,UMLS,C0748540,Exact +GARD:0001053,ICD-10,M34.1,NTBT +GARD:0001053,SNOMED-CT,298285004,NA +GARD:0001057,SNOMED-CT,715341003,NA +GARD:0001057,Orphanet,267,Exact +GARD:0001057,UMLS,C1869123,Exact +GARD:0001057,OMIM,618129,Exact +GARD:0001057,OMIM,253600,Exact +GARD:0001057,ICD-10,G71.0,NTBT +GARD:0001058,SNOMED-CT,782786001,NA +GARD:0001058,Orphanet,391327,Exact +GARD:0001058,OMIM,302030,Exact +GARD:0001058,ICD-10,M85.2,NTBT +GARD:0001061,Orphanet,1318,Exact +GARD:0001061,OMIM,211890,Exact +GARD:0001061,UMLS,C1859371,Exact +GARD:0001061,MeSH,C537966,Exact +GARD:0001061,ICD-10,Q87.8,NTBT +GARD:0001061,SNOMED-CT,720599002,NA +GARD:0001062,SNOMED-CT,733045005,NA +GARD:0001062,Orphanet,1319,Exact +GARD:0001062,MeSH,C537967,Exact +GARD:0001062,UMLS,C1861963,Exact +GARD:0001062,OMIM,114150,Exact +GARD:0001062,ICD-10,Q74.8,NTBT +GARD:0001063,Orphanet,1320,Exact +GARD:0001063,MeSH,C537968,Exact +GARD:0001063,ICD-10,M43.8,NTBT +GARD:0001063,UMLS,C0264162,Exact +GARD:0001063,MedDRA,10069646,Exact +GARD:0001064,Orphanet,1321,Exact +GARD:0001064,UMLS,C1859357,Exact +GARD:0001064,MeSH,C537287,Exact +GARD:0001064,MeSH,C537974,Exact +GARD:0001064,ICD-10,Q87.2,NTBT +GARD:0001064,SNOMED-CT,720600004,NA +GARD:0001064,OMIM,211930,Exact +GARD:0001067,SNOMED-CT,720602007,NA +GARD:0001067,Orphanet,1327,Exact +GARD:0001067,MeSH,C537970,Exact +GARD:0001067,ICD-10,Q87.1,NTBT +GARD:0001067,UMLS,C1859359,Exact +GARD:0001067,OMIM,211910,Exact +GARD:0001067,UMLS,C2931679,Exact +GARD:0001068,Orphanet,1326,Exact +GARD:0001068,UMLS,C2673861,Exact +GARD:0001068,OMIM,211920,Exact +GARD:0001068,SNOMED-CT,720603002,NA +GARD:0001068,UMLS,C2931680,Exact +GARD:0001068,MeSH,C537971,Exact +GARD:0001068,ICD-10,Q87.1,NTBT +GARD:0001069,Orphanet,1325,Exact +GARD:0001069,ICD-10,Q68.1,NTBT +GARD:0001069,UMLS,C2931681,Exact +GARD:0001069,MeSH,C537972,Exact +GARD:0001069,SNOMED-CT,733466005,NA +GARD:0001071,OMIM,211990,Exact +GARD:0001071,GeneticAlliance,1038,NA +GARD:0001071,UMLS,C1859354,NA +GARD:0001072,Orphanet,1328,Exact +GARD:0001072,ICD-11,LD24.1Y,NTBT +GARD:0001072,UMLS,C0011989,Exact +GARD:0001072,OMIM,131300,Exact +GARD:0001072,MeSH,D003966,Exact +GARD:0001072,ICD-10,Q78.3,Exact +GARD:0001072,SNOMED-CT,34643004,NA +GARD:0001077,Orphanet,1334,Exact +GARD:0001077,ICD-10,B37.2,NTBT +GARD:0001077,OMIM,607644,BTNT +GARD:0001077,OMIM,613108,BTNT +GARD:0001077,OMIM,615527,BTNT +GARD:0001077,OMIM,616445,BTNT +GARD:0001077,OMIM,613953,BTNT +GARD:0001077,MedDRA,10009007,Exact +GARD:0001077,UMLS,C0006845,Exact +GARD:0001077,ICD-11,1F23.14,Exact +GARD:0001077,MeSH,D002178,Exact +GARD:0001077,OMIM,114580,Exact +GARD:0001077,SNOMED-CT,234568006,NA +GARD:0001077,OMIM,252250,BTNT +GARD:0001077,OMIM,247650,BTNT +GARD:0001077,OMIM,613956,BTNT +GARD:0001078,Orphanet,2233,Exact +GARD:0001078,ICD-10,Q87.8,NTBT +GARD:0001078,UMLS,C2931685,Exact +GARD:0001078,SNOMED-CT,721841001,NA +GARD:0001084,SNOMED-CT,87730004,NA +GARD:0001084,Orphanet,188,Exact +GARD:0001084,ICD-10,I78.8,NTBT +GARD:0001084,MedDRA,10007196,Exact +GARD:0001084,MeSH,D019559,Exact +GARD:0001084,UMLS,C0343084,Exact +GARD:0001093,OMIM,113900,Exact +GARD:0001093,Orphanet,871,NTBT +GARD:0001093,UMLS,C1879286,NA +GARD:0001093,GeneticAlliance,5978,NA +GARD:0001093,SNOMED-CT,283645003,NA +GARD:0001093,DiseaseOntology,111074,NA +GARD:0001093,SNOMED-CT,698249005,NA +GARD:0001094,Orphanet,1686,Exact +GARD:0001094,ICD-10,Q24.8,NTBT +GARD:0001094,SNOMED-CT,718181001,NA +GARD:0001096,Orphanet,555877,Exact +GARD:0001096,ICD-10,Q23.8,NTBT +GARD:0001096,OMIM,314400,BTNT +GARD:0001100,Orphanet,500,Exact +GARD:0001100,ICD-10,Q87.1,NTBT +GARD:0001100,MeSH,C537116,Exact +GARD:0001100,UMLS,C2931424,Exact +GARD:0001100,OMIM,611554,BTNT +GARD:0001100,OMIM,151100,Exact +GARD:0001100,MedDRA,10062901,Exact +GARD:0001100,OMIM,613707,BTNT +GARD:0001100,MeSH,D044542,Exact +GARD:0001100,UMLS,C0175704,Exact +GARD:0001100,SNOMED-CT,111306001,NA +GARD:0001102,SNOMED-CT,720609003,NA +GARD:0001102,Orphanet,1345,Exact +GARD:0001102,UMLS,C2931548,Exact +GARD:0001102,ICD-10,I42.0,NTBT +GARD:0001104,OMIM,115200,Exact +GARD:0001104,SNOMED-CT,53043001,NA +GARD:0001104,GeneticAlliance,1094,NA +GARD:0001104,DiseaseOntology,110425,NA +GARD:0001104,UMLS,C1449563,NA +GARD:0001118,Orphanet,293843,Exact +GARD:0001118,ICD-10,Q87.8,NTBT +GARD:0001118,SNOMED-CT,720756005,NA +GARD:0001118,OMIM,265050,BTNT +GARD:0001118,OMIM,257920,BTNT +GARD:0001118,OMIM,248340,BTNT +GARD:0001119,SNOMED-CT,733491005,NA +GARD:0001119,Orphanet,1359,Exact +GARD:0001119,ICD-10,D44.8,NTBT +GARD:0001119,UMLS,C2607929,Exact +GARD:0001119,OMIM,160980,BTNT +GARD:0001119,UMLS,C0406810,Exact +GARD:0001119,OMIM,605244,BTNT +GARD:0001119,MeSH,D056733,Exact +GARD:0001120,Orphanet,156,Exact +GARD:0001120,OMIM,255120,Exact +GARD:0001120,ICD-10,E71.3,NTBT +GARD:0001120,UMLS,C1829703,Exact +GARD:0001120,SNOMED-CT,238001003,NA +GARD:0001121,SNOMED-CT,238002005,NA +GARD:0001121,Orphanet,157,Exact +GARD:0001121,OMIM,255110,BTNT +GARD:0001121,OMIM,608836,BTNT +GARD:0001121,ICD-10,E71.3,NTBT +GARD:0001121,UMLS,C0342790,Exact +GARD:0001121,OMIM,600649,BTNT +GARD:0001121,MeSH,C535589,Exact +GARD:0001123,SNOMED-CT,238003000,NA +GARD:0001123,Orphanet,159,Exact +GARD:0001123,OMIM,212138,Exact +GARD:0001123,ICD-10,E71.3,NTBT +GARD:0001123,UMLS,C0342791,Exact +GARD:0001128,Orphanet,2767,Exact +GARD:0001128,ICD-10,D16.9,NTBT +GARD:0001128,OMIM,127820,Exact +GARD:0001128,UMLS,C1300233,Exact +GARD:0001128,SNOMED-CT,389272007,NA +GARD:0001130,Orphanet,2902,Exact +GARD:0001130,UMLS,C2930941,Exact +GARD:0001130,UMLS,C0008680,Exact +GARD:0001130,ICD-10,J82,NTBT +GARD:0001130,ICD-11,CB02.11,Exact +GARD:0001130,SNOMED-CT,233692000,NA +GARD:0001133,SNOMED-CT,718910006,NA +GARD:0001133,Orphanet,85288,Exact +GARD:0001133,OMIM,300434,Exact +GARD:0001133,ICD-10,Q87.8,NTBT +GARD:0001139,Orphanet,1366,Exact +GARD:0001139,MeSH,C535336,Exact +GARD:0001139,OMIM,212360,Exact +GARD:0001139,ICD-10,Q82.8,NTBT +GARD:0001139,UMLS,C1859316,Exact +GARD:0001139,ICD-10,Q84.0,NTBT +GARD:0001139,SNOMED-CT,719104003,NA +GARD:0001140,Orphanet,98988,Exact +GARD:0001140,UMLS,C1855179,Exact +GARD:0001140,ICD-10,Q12.0,NTBT +GARD:0001140,OMIM,601202,BTNT +GARD:0001140,MeSH,C538282,Exact +GARD:0001141,Orphanet,1368,Exact +GARD:0001141,UMLS,C0796123,Exact +GARD:0001141,OMIM,212710,Exact +GARD:0001141,ICD-10,G11.2,NTBT +GARD:0001141,MeSH,C538283,Exact +GARD:0001141,SNOMED-CT,719102004,NA +GARD:0001142,SNOMED-CT,717812000,NA +GARD:0001142,Orphanet,1369,Exact +GARD:0001142,MeSH,C538280,Exact +GARD:0001142,OMIM,212350,Exact +GARD:0001142,OMIM,615418,BTNT +GARD:0001142,ICD-10,Q87.8,NTBT +GARD:0001142,UMLS,C1859317,Exact +GARD:0001144,OMIM,115700,Exact +GARD:0001144,UMLS,C1861832,NA +GARD:0001144,DiseaseOntology,110234,NA +GARD:0001144,UMLS,C1837023,NA +GARD:0001144,UMLS,C3888390,NA +GARD:0001144,UMLS,C3888391,NA +GARD:0001144,GeneticAlliance,7921,NA +GARD:0001144,UMLS,C3540850,NA +GARD:0001155,SNOMED-CT,722382006,NA +GARD:0001155,Orphanet,1377,Exact +GARD:0001155,UMLS,C1861829,Exact +GARD:0001155,OMIM,601547,BTNT +GARD:0001155,OMIM,116200,BTNT +GARD:0001155,OMIM,604219,BTNT +GARD:0001155,MeSH,C538287,Exact +GARD:0001155,OMIM,115700,BTNT +GARD:0001155,ICD-10,Q13.8,NTBT +GARD:0001159,SNOMED-CT,29590001,NA +GARD:0001159,Orphanet,98994,Exact +GARD:0001159,UMLS,C0266539,Exact +GARD:0001159,OMIM,601547,BTNT +GARD:0001159,OMIM,618415,BTNT +GARD:0001159,ICD-10,Q12.0,NTBT +GARD:0001159,MeSH,C535341,Exact +GARD:0001159,OMIM,616509,BTNT +GARD:0001160,SNOMED-CT,718851007,NA +GARD:0001160,Orphanet,162,Exact +GARD:0001160,ICD-10,Q12.0,NTBT +GARD:0001163,SNOMED-CT,726621009,NA +GARD:0001163,Orphanet,1123,Exact +GARD:0001163,UMLS,C2931593,Exact +GARD:0001164,Orphanet,1756,Exact +GARD:0001164,UMLS,C0266688,Exact +GARD:0001164,OMIM,607864,Exact +GARD:0001164,UMLS,C1842884,Exact +GARD:0001164,SNOMED-CT,71464000,NA +GARD:0001164,ICD-10,Q87.8,NTBT +GARD:0001167,Orphanet,2008,Exact +GARD:0001167,UMLS,C1838121,Exact +GARD:0001167,OMIM,600460,Exact +GARD:0001167,ICD-10,Q87.8,NTBT +GARD:0001188,Orphanet,1171,Exact +GARD:0001188,OMIM,601338,Exact +GARD:0001188,ICD-10,G11.1,NTBT +GARD:0001188,UMLS,C1832466,Exact +GARD:0001188,SNOMED-CT,720634003,NA +GARD:0001189,Orphanet,1174,Exact +GARD:0001189,UMLS,C1859306,Exact +GARD:0001189,ICD-10,G11.1,NTBT +GARD:0001189,MeSH,C535350,Exact +GARD:0001189,OMIM,212835,Exact +GARD:0001189,SNOMED-CT,715371006,NA +GARD:0001191,Orphanet,254886,Exact +GARD:0001191,UMLS,C1850303,Exact +GARD:0001191,OMIM,258450,BTNT +GARD:0001191,ICD-10,H49.4,NTBT +GARD:0001191,OMIM,617069,BTNT +GARD:0001191,SNOMED-CT,827117008,NA +GARD:0001195,Orphanet,85186,Exact +GARD:0001195,MeSH,C535353,Exact +GARD:0001195,OMIM,213002,Exact +GARD:0001195,UMLS,C1859301,Exact +GARD:0001195,ICD-10,Q87.8,NTBT +GARD:0001196,SNOMED-CT,715436007,NA +GARD:0001196,Orphanet,2246,Exact +GARD:0001196,OMIM,213000,NTBT +GARD:0001196,ICD-10,Q04.3,NTBT +GARD:0001199,Orphanet,1170,Exact +GARD:0001199,SNOMED-CT,715369006,NA +GARD:0001199,UMLS,C1859298,Exact +GARD:0001199,OMIM,213200,Exact +GARD:0001199,ICD-10,G11.0,NTBT +GARD:0001200,SNOMED-CT,715990006,NA +GARD:0001200,Orphanet,1397,Exact +GARD:0001200,ICD-10,Q04.3,NTBT +GARD:0001200,UMLS,C1844005,Exact +GARD:0001200,OMIM,307010,NTBT +GARD:0001210,Orphanet,1394,Exact +GARD:0001210,UMLS,C1859252,Exact +GARD:0001210,ICD-10,Q87.5,NTBT +GARD:0001210,OMIM,213980,Exact +GARD:0001210,SNOMED-CT,720635002,NA +GARD:0001217,SNOMED-CT,783787000,NA +GARD:0001217,Orphanet,247691,Exact +GARD:0001217,ICD-11,9B78.0,Exact +GARD:0001217,UMLS,C1860518,Exact +GARD:0001217,ICD-10,I77.8,NTBT +GARD:0001217,OMIM,192315,Exact +GARD:0001218,Orphanet,228337,Exact +GARD:0001218,UMLS,C1864669,Exact +GARD:0001218,ICD-10,E75.4,NTBT +GARD:0001218,OMIM,610127,Exact +GARD:0001219,Orphanet,228329,Exact +GARD:0001219,ICD-10,E75.4,NTBT +GARD:0001219,UMLS,C1850451,Exact +GARD:0001219,OMIM,256730,Exact +GARD:0001220,Orphanet,228366,Exact +GARD:0001220,OMIM,610951,Exact +GARD:0001220,ICD-10,E75.4,NTBT +GARD:0001220,UMLS,C1838571,Exact +GARD:0001222,Orphanet,228343,Exact +GARD:0001222,ICD-10,E75.4,NTBT +GARD:0001222,OMIM,162350,Exact +GARD:0001223,Orphanet,228360,Exact +GARD:0001223,ICD-10,E75.4,NTBT +GARD:0001223,UMLS,C1850442,Exact +GARD:0001223,OMIM,256731,Exact +GARD:0001224,Orphanet,228363,Exact +GARD:0001224,ICD-10,E75.4,NTBT +GARD:0001224,OMIM,601780,Exact +GARD:0001224,UMLS,C1866282,Exact +GARD:0001226,Orphanet,2218,Exact +GARD:0001226,UMLS,C2931676,Exact +GARD:0001226,SNOMED-CT,720852000,NA +GARD:0001226,OMIM,239840,Exact +GARD:0001226,ICD-10,G60.0,NTBT +GARD:0001226,UMLS,C1855902,Exact +GARD:0001233,Orphanet,1401,Exact +GARD:0001233,ICD-10,Q82.8,NTBT +GARD:0001233,UMLS,C0406733,Exact +GARD:0001233,SNOMED-CT,239037001,NA +GARD:0001233,OMIM,214350,Exact +GARD:0001234,SNOMED-CT,733113002,NA +GARD:0001234,Orphanet,2235,Exact +GARD:0001234,UMLS,C2931722,Exact +GARD:0001235,SNOMED-CT,49982000,NA +GARD:0001235,Orphanet,3282,Exact +GARD:0001235,UMLS,C0221158,Exact +GARD:0001235,ICD-10,I47.1,NTBT +GARD:0001237,SNOMED-CT,703534001,NA +GARD:0001237,Orphanet,46627,Exact +GARD:0001237,UMLS,C1868570,Exact +GARD:0001237,ICD-10,Q87.8,NTBT +GARD:0001237,OMIM,169100,Exact +GARD:0001237,MeSH,C538076,Exact +GARD:0001240,Orphanet,101078,Exact +GARD:0001240,SNOMED-CT,763400005,NA +GARD:0001240,ICD-10,G60.0,NTBT +GARD:0001240,UMLS,C0795910,Exact +GARD:0001240,OMIM,310490,Exact +GARD:0001243,SNOMED-CT,763457000,NA +GARD:0001243,Orphanet,101076,Exact +GARD:0001243,ICD-10,G60.0,NTBT +GARD:0001243,OMIM,302801,Exact +GARD:0001243,UMLS,C1844873,Exact +GARD:0001244,SNOMED-CT,763458005,NA +GARD:0001244,Orphanet,101077,Exact +GARD:0001244,OMIM,302802,Exact +GARD:0001244,UMLS,C1844865,Exact +GARD:0001244,ICD-10,G60.0,NTBT +GARD:0001245,Orphanet,101081,Exact +GARD:0001245,OMIM,118220,Exact +GARD:0001245,UMLS,C0270911,Exact +GARD:0001245,ICD-10,G60.0,NTBT +GARD:0001245,SNOMED-CT,40632002,NA +GARD:0001246,SNOMED-CT,42986003,NA +GARD:0001246,Orphanet,101082,Exact +GARD:0001246,OMIM,118200,Exact +GARD:0001246,ICD-10,G60.0,NTBT +GARD:0001246,UMLS,C0270912,Exact +GARD:0001247,Orphanet,101083,Exact +GARD:0001247,ICD-10,G60.0,NTBT +GARD:0001247,MeSH,C537984,Exact +GARD:0001247,SNOMED-CT,4183003,NA +GARD:0001247,UMLS,C0270913,Exact +GARD:0001247,OMIM,601098,Exact +GARD:0001248,SNOMED-CT,717016001,NA +GARD:0001248,Orphanet,99946,Exact +GARD:0001248,OMIM,118210,Exact +GARD:0001248,ICD-10,G60.0,NTBT +GARD:0001248,UMLS,C1861678,Exact +GARD:0001249,SNOMED-CT,719981005,NA +GARD:0001249,Orphanet,101101,Exact +GARD:0001249,MeSH,C537991,Exact +GARD:0001249,OMIM,605589,Exact +GARD:0001249,UMLS,C1854150,Exact +GARD:0001249,ICD-10,G60.0,NTBT +GARD:0001250,SNOMED-CT,717010007,NA +GARD:0001250,Orphanet,99937,Exact +GARD:0001250,OMIM,606071,Exact +GARD:0001250,ICD-10,G60.0,NTBT +GARD:0001250,UMLS,C1853710,Exact +GARD:0001251,Orphanet,99938,Exact +GARD:0001251,UMLS,C1832274,Exact +GARD:0001251,OMIM,601472,Exact +GARD:0001251,ICD-10,G60.0,NTBT +GARD:0001251,SNOMED-CT,717011006,NA +GARD:0001252,SNOMED-CT,715796006,NA +GARD:0001252,Orphanet,99948,Exact +GARD:0001252,UMLS,C1859198,Exact +GARD:0001252,OMIM,214400,Exact +GARD:0001252,ICD-10,G60.0,NTBT +GARD:0001252,MeSH,C535419,Exact +GARD:0001253,SNOMED-CT,715803003,NA +GARD:0001253,Orphanet,99955,Exact +GARD:0001253,MeSH,C535420,Exact +GARD:0001253,OMIM,601382,Exact +GARD:0001253,ICD-10,G60.0,NTBT +GARD:0001253,UMLS,C1832399,Exact +GARD:0001258,SNOMED-CT,763455008,NA +GARD:0001258,Orphanet,101075,Exact +GARD:0001258,UMLS,C0393808,Exact +GARD:0001258,OMIM,302800,Exact +GARD:0001258,ICD-10,G60.0,NTBT +GARD:0001258,MeSH,C535919,Exact +GARD:0001261,SNOMED-CT,733034007,NA +GARD:0001261,Orphanet,1406,Exact +GARD:0001261,ICD-10,Q87.0,NTBT +GARD:0001274,Orphanet,2888,Exact +GARD:0001274,OMIM,311895,Exact +GARD:0001274,UMLS,C2931064,Exact +GARD:0001274,ICD-10,Q87.8,NTBT +GARD:0001274,SNOMED-CT,723461007,NA +GARD:0001280,Orphanet,171,Exact +GARD:0001280,MeSH,C536419,Exact +GARD:0001280,UMLS,C0566602,Exact +GARD:0001280,OMIM,613806,Exact +GARD:0001280,OMIM,602114,BTNT +GARD:0001280,ICD-10,K83.0,NTBT +GARD:0001280,MedDRA,10036732,Exact +GARD:0001280,SNOMED-CT,197441003,NA +GARD:0001288,Orphanet,79304,Exact +GARD:0001288,OMIM,601847,Exact +GARD:0001288,UMLS,C1866138,Exact +GARD:0001288,ICD-10,K76.8,NTBT +GARD:0001288,OMIM,615878,BTNT +GARD:0001288,UMLS,C3489789,Exact +GARD:0001288,MeSH,C535934,Exact +GARD:0001289,Orphanet,79305,Exact +GARD:0001289,OMIM,602347,Exact +GARD:0001289,ICD-10,K76.8,NTBT +GARD:0001289,UMLS,C1865643,Exact +GARD:0001289,MeSH,C535935,Exact +GARD:0001292,SNOMED-CT,239832006,NA +GARD:0001292,Orphanet,1416,Exact +GARD:0001292,ICD-10,M11.1,Exact +GARD:0001292,OMIM,600668,BTNT +GARD:0001292,OMIM,118600,Exact +GARD:0001292,UMLS,C0856830,Exact +GARD:0001292,UMLS,C0553730,Exact +GARD:0001292,ICD-11,FA26.0,Exact +GARD:0001296,Orphanet,79345,Exact +GARD:0001296,MeSH,C535941,Exact +GARD:0001296,ICD-10,Q77.3,NTBT +GARD:0001296,UMLS,C1844853,Exact +GARD:0001296,OMIM,602497,BTNT +GARD:0001296,OMIM,302950,Exact +GARD:0001296,SNOMED-CT,778067002,NA +GARD:0001300,SNOMED-CT,77542002,NA +GARD:0001300,Orphanet,2098,Exact +GARD:0001300,UMLS,C0265260,Exact +GARD:0001300,OMIM,200700,Exact +GARD:0001300,ICD-10,Q78.8,NTBT +GARD:0001301,Orphanet,289,Exact +GARD:0001301,OMIM,225500,Exact +GARD:0001301,UMLS,C0013903,Exact +GARD:0001301,MedDRA,10008724,Exact +GARD:0001301,MeSH,D004613,Exact +GARD:0001301,OMIM,617088,BTNT +GARD:0001301,ICD-10,Q77.6,NTBT +GARD:0001301,OMIM,618123,BTNT +GARD:0001301,SNOMED-CT,62501005,NA +GARD:0001303,Orphanet,178,Exact +GARD:0001303,OMIM,215400,Exact +GARD:0001303,UMLS,C0008487,Exact +GARD:0001303,MedDRA,10008747,Exact +GARD:0001303,MeSH,D002817,Exact +GARD:0001303,ICD-10,C76.7,NTBT +GARD:0001303,SNOMED-CT,1156453008,NA +GARD:0001305,Orphanet,1429,Exact +GARD:0001305,UMLS,C0393584,Exact +GARD:0001305,ICD-10,G25.5,NTBT +GARD:0001305,OMIM,118700,Exact +GARD:0001305,OMIM,215450,BTNT +GARD:0001305,UMLS,C1859098,Exact +GARD:0001305,ICD-11,8A01.0,Exact +GARD:0001305,SNOMED-CT,230306001,NA +GARD:0001313,Orphanet,1313,Exact +GARD:0001313,ICD-10,G93.8,NTBT +GARD:0001313,UMLS,C1859092,Exact +GARD:0001313,OMIM,215480,Exact +GARD:0001313,SNOMED-CT,724228005,NA +GARD:0001319,Orphanet,182,Exact +GARD:0001319,UMLS,C0008582,Exact +GARD:0001319,ICD-10,B43.8,BTNT +GARD:0001319,SNOMED-CT,77798004,NA +GARD:0001319,ICD-10,B43.1,BTNT +GARD:0001319,MedDRA,10008803,Exact +GARD:0001319,ICD-10,B43.2,BTNT +GARD:0001319,MeSH,D002862,Exact +GARD:0001319,ICD-10,B43.9,BTNT +GARD:0001319,ICD-10,B43.0,BTNT +GARD:0001320,SNOMED-CT,47017007,NA +GARD:0001320,Orphanet,1437,Exact +GARD:0001320,ICD-10,Q93.2,NTBT +GARD:0001320,UMLS,C1519099,Exact +GARD:0001320,MeSH,C535361,Exact +GARD:0001320,UMLS,C0265395,Exact +GARD:0001322,SNOMED-CT,86997002,NA +GARD:0001322,Orphanet,1438,Exact +GARD:0001322,UMLS,C0265438,Exact +GARD:0001322,MeSH,C538086,Exact +GARD:0001322,ICD-10,Q93.2,NTBT +GARD:0001322,UMLS,C2931727,Exact +GARD:0001323,Orphanet,1580,Exact +GARD:0001323,SNOMED-CT,719686003,NA +GARD:0001323,OMIM,601362,Exact +GARD:0001323,UMLS,C1832431,Exact +GARD:0001323,ICD-10,Q93.5,NTBT +GARD:0001325,Orphanet,1439,Exact +GARD:0001325,ICD-10,Q93.2,NTBT +GARD:0001325,SNOMED-CT,770595006,NA +GARD:0001325,UMLS,C0795843,Exact +GARD:0001327,Orphanet,1703,Exact +GARD:0001327,ICD-10,Q92.1,NTBT +GARD:0001327,UMLS,C0795851,Exact +GARD:0001327,SNOMED-CT,764466009,NA +GARD:0001327,MeSH,C535489,Exact +GARD:0001327,UMLS,C2930917,Exact +GARD:0001328,SNOMED-CT,763405000,NA +GARD:0001328,Orphanet,96177,Exact +GARD:0001328,UMLS,C2931703,Exact +GARD:0001328,ICD-10,Q93.2,NTBT +GARD:0001328,MeSH,C538035,Exact +GARD:0001333,Orphanet,1443,Exact +GARD:0001333,ICD-10,Q93.2,NTBT +GARD:0001333,SNOMED-CT,765484001,NA +GARD:0001333,UMLS,C2931812,Exact +GARD:0001334,Orphanet,1444,Exact +GARD:0001334,ICD-10,Q93.2,NTBT +GARD:0001334,UMLS,C0265482,Exact +GARD:0001334,MeSH,C535369,Exact +GARD:0001334,UMLS,C2930886,Exact +GARD:0001334,SNOMED-CT,23686004,NA +GARD:0001336,Orphanet,1446,Exact +GARD:0001336,ICD-10,Q93.2,NTBT +GARD:0001336,UMLS,C0265492,Exact +GARD:0001336,MeSH,C536795,Exact +GARD:0001336,UMLS,C2931325,Exact +GARD:0001336,SNOMED-CT,13555004,NA +GARD:0001339,Orphanet,1447,Exact +GARD:0001339,UMLS,C0265407,Exact +GARD:0001339,ICD-10,Q93.2,NTBT +GARD:0001339,MeSH,C537636,Exact +GARD:0001339,UMLS,C2931556,Exact +GARD:0001339,SNOMED-CT,81678004,NA +GARD:0001345,Orphanet,1449,Exact +GARD:0001345,UMLS,C0795818,Exact +GARD:0001345,SNOMED-CT,765489006,NA +GARD:0001345,MeSH,C537813,Exact +GARD:0001345,ICD-10,Q93.2,NTBT +GARD:0001345,UMLS,C2931622,Exact +GARD:0001347,Orphanet,1450,Exact +GARD:0001347,MeSH,C537824,Exact +GARD:0001347,ICD-10,Q93.2,NTBT +GARD:0001347,UMLS,C2931633,Exact +GARD:0001347,SNOMED-CT,715983001,NA +GARD:0001348,SNOMED-CT,60650002,NA +GARD:0001348,Orphanet,96173,Exact +GARD:0001348,ICD-10,Q93.2,NTBT +GARD:0001348,UMLS,C2931693,Exact +GARD:0001348,MeSH,C538022,Exact +GARD:0001348,UMLS,C0265430,Exact +GARD:0001356,SNOMED-CT,239826001,NA +GARD:0001356,Orphanet,1451,Exact +GARD:0001356,OMIM,607115,Exact +GARD:0001356,UMLS,C0409818,Exact +GARD:0001356,ICD-10,E85.0,NTBT +GARD:0001358,Orphanet,3068,Exact +GARD:0001358,ICD-10,Q87.8,NTBT +GARD:0001358,OMIM,253320,Exact +GARD:0001358,UMLS,C1854663,Exact +GARD:0001358,SNOMED-CT,764959000,NA +GARD:0001359,SNOMED-CT,52985009,NA +GARD:0001359,Orphanet,1160,Exact +GARD:0001359,MedDRA,10003446,Exact +GARD:0001359,MeSH,D002915,Exact +GARD:0001359,ICD-10,I89.8,NTBT +GARD:0001359,OMIM,208300,Exact +GARD:0001359,UMLS,C0008732,Exact +GARD:0001359,ICD-11,DC51.0,Exact +GARD:0001360,OMIM,215518,Exact +GARD:0001360,UMLS,C0340038,NA +GARD:0001360,SNOMED-CT,233667003,NA +GARD:0001361,OMIM,215520,Exact +GARD:0001361,UMLS,C2673817,NA +GARD:0001369,Orphanet,3329,Exact +GARD:0001369,OMIM,610685,BTNT +GARD:0001369,UMLS,C1861553,Exact +GARD:0001369,SNOMED-CT,715531000,NA +GARD:0001369,OMIM,119100,BTNT +GARD:0001369,ICD-10,Q73.8,NTBT +GARD:0001369,OMIM,612576,BTNT +GARD:0001391,Orphanet,2016,Exact +GARD:0001391,UMLS,C0795898,Exact +GARD:0001391,OMIM,119550,Exact +GARD:0001391,ICD-10,Q87.8,NTBT +GARD:0001391,SNOMED-CT,403772000,NA +GARD:0001392,SNOMED-CT,719466009,NA +GARD:0001392,Orphanet,2015,Exact +GARD:0001392,ICD-10,Q87.0,NTBT +GARD:0001393,Orphanet,2010,Exact +GARD:0001393,ICD-10,Q87.8,NTBT +GARD:0001393,OMIM,216300,Exact +GARD:0001393,SNOMED-CT,719468005,NA +GARD:0001393,UMLS,C1859081,Exact +GARD:0001394,Orphanet,324601,Exact +GARD:0001394,ICD-10,Q38.6,NTBT +GARD:0001394,OMIM,303400,NTBT +GARD:0001394,SNOMED-CT,766761000,NA +GARD:0001402,Orphanet,93274,Exact +GARD:0001402,OMIM,187601,Exact +GARD:0001402,UMLS,C1300257,Exact +GARD:0001402,UMLS,C1834928,Exact +GARD:0001402,ICD-10,Q77.1,NTBT +GARD:0001402,OMIM,156830,BTNT +GARD:0001402,SNOMED-CT,389158007,NA +GARD:0001404,OMIM,156830,Exact +GARD:0001404,GeneticAlliance,4776,NA +GARD:0001404,UMLS,C1834928,NA +GARD:0001410,Orphanet,1454,Exact +GARD:0001410,OMIM,619113,BTNT +GARD:0001410,OMIM,619111,BTNT +GARD:0001410,OMIM,216360,BTNT +GARD:0001410,UMLS,C1857662,Exact +GARD:0001410,ICD-10,Q04.3,NTBT +GARD:0001410,SNOMED-CT,721847002,NA +GARD:0001413,SNOMED-CT,254250002,NA +GARD:0001413,Orphanet,1911,Exact +GARD:0001413,UMLS,C0432371,Exact +GARD:0001413,ICD-10,Q86.8,NTBT +GARD:0001415,Orphanet,90321,Exact +GARD:0001415,OMIM,216400,BTNT +GARD:0001415,ICD-10,Q87.8,NTBT +GARD:0001415,OMIM,133540,BTNT +GARD:0001415,UMLS,C0751039,Exact +GARD:0001417,Orphanet,90324,Exact +GARD:0001417,OMIM,216411,BTNT +GARD:0001417,OMIM,216400,BTNT +GARD:0001417,UMLS,C0751037,Exact +GARD:0001417,OMIM,133540,BTNT +GARD:0001417,ICD-10,Q87.8,NTBT +GARD:0001418,Orphanet,1458,Exact +GARD:0001418,OMIM,600373,Exact +GARD:0001418,MeSH,C536434,Exact +GARD:0001418,ICD-10,Q87.8,NTBT +GARD:0001418,SNOMED-CT,717772000,NA +GARD:0001418,UMLS,C1838180,Exact +GARD:0001420,Orphanet,90322,Exact +GARD:0001420,OMIM,133540,BTNT +GARD:0001420,OMIM,216400,BTNT +GARD:0001420,ICD-10,Q87.8,NTBT +GARD:0001420,UMLS,C0751038,Exact +GARD:0001421,SNOMED-CT,405810005,NA +GARD:0001421,Orphanet,1467,Exact +GARD:0001421,ICD-10,H16.3,NTBT +GARD:0001421,MeSH,D055952,Exact +GARD:0001421,MedDRA,10056667,Exact +GARD:0001425,Orphanet,2050,Exact +GARD:0001425,OMIM,112240,Exact +GARD:0001425,ICD-10,Q78.0,NTBT +GARD:0001425,MeSH,C535963,Exact +GARD:0001425,UMLS,C1862178,Exact +GARD:0001425,OMIM,616294,BTNT +GARD:0001428,Orphanet,2412,Exact +GARD:0001428,OMIM,601450,Exact +GARD:0001428,ICD-10,Q87.2,NTBT +GARD:0001428,SNOMED-CT,763755009,NA +GARD:0001433,Orphanet,98943,Exact +GARD:0001433,ICD-11,LA12.0,Exact +GARD:0001433,ICD-10,Q12.2,Exact +GARD:0001433,UMLS,C0344516,Exact +GARD:0001433,SNOMED-CT,204134008,NA +GARD:0001434,Orphanet,98944,Exact +GARD:0001434,UMLS,C0266551,Exact +GARD:0001434,MedDRA,10052642,Exact +GARD:0001434,ICD-11,LA11.4,Exact +GARD:0001434,OMIM,120200,NTBT +GARD:0001434,ICD-10,Q13.0,Exact +GARD:0001436,SNOMED-CT,737579002,NA +GARD:0001436,Orphanet,98945,Exact +GARD:0001436,ICD-10,Q14.8,NTBT +GARD:0001436,ICD-11,LA13.2,Exact +GARD:0001437,Orphanet,1471,Exact +GARD:0001437,OMIM,120400,Exact +GARD:0001437,UMLS,C1852752,Exact +GARD:0001437,ICD-10,Q87.1,NTBT +GARD:0001437,MeSH,C535969,Exact +GARD:0001437,SNOMED-CT,717785002,NA +GARD:0001438,Orphanet,98947,Exact +GARD:0001438,ICD-10,Q14.2,NTBT +GARD:0001438,SNOMED-CT,44295002,NA +GARD:0001440,SNOMED-CT,719042007,NA +GARD:0001440,Orphanet,1473,Exact +GARD:0001440,UMLS,C0795902,Exact +GARD:0001440,ICD-10,Q13.8,NTBT +GARD:0001440,OMIM,120433,Exact +GARD:0001443,Orphanet,77298,Exact +GARD:0001443,UMLS,C1859773,Exact +GARD:0001443,OMIM,206900,Exact +GARD:0001443,ICD-10,Q87.8,NTBT +GARD:0001446,Orphanet,1198,Exact +GARD:0001446,OMIM,303650,Exact +GARD:0001446,UMLS,C0266190,Exact +GARD:0001446,ICD-10,Q42.9,NTBT +GARD:0001446,SNOMED-CT,37054000,NA +GARD:0001452,OMIM,217000,Exact +GARD:0001452,Orphanet,169147,NTBT +GARD:0001452,GeneticAlliance,1755,NA +GARD:0001452,UMLS,C3150275,NA +GARD:0001452,DiseaseOntology,60295,NA +GARD:0001452,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/complement-component-2-deficiency,NA +GARD:0001454,Orphanet,1329,Exact +GARD:0001454,UMLS,C0221215,Exact +GARD:0001454,ICD-10,Q21.2,NTBT +GARD:0001454,UMLS,C0344787,Exact +GARD:0001454,SNOMED-CT,360481003,NA +GARD:0001460,Orphanet,3216,Exact +GARD:0001460,OMIM,221300,Exact +GARD:0001460,UMLS,C1857341,Exact +GARD:0001460,UMLS,C2931454,Exact +GARD:0001460,SNOMED-CT,783742004,NA +GARD:0001462,OMIM,300085,Exact +GARD:0001462,UMLS,C1848139,NA +GARD:0001462,GeneticAlliance,1774,NA +GARD:0001462,DiseaseOntology,111006,NA +GARD:0001463,SNOMED-CT,707608003,NA +GARD:0001463,Orphanet,1873,Exact +GARD:0001463,ICD-10,H35.5,NTBT +GARD:0001463,OMIM,217080,Exact +GARD:0001463,UMLS,C2931074,Exact +GARD:0001463,UMLS,C3495589,Exact +GARD:0001465,SNOMED-CT,717260007,NA +GARD:0001465,Orphanet,90790,Exact +GARD:0001465,ICD-10,E25.0,NTBT +GARD:0001465,UMLS,C0342474,Exact +GARD:0001465,OMIM,201710,Exact +GARD:0001465,MeSH,C537027,Exact +GARD:0001467,Orphanet,418,Exact +GARD:0001467,OMIM,201910,BTNT +GARD:0001467,OMIM,613571,BTNT +GARD:0001467,MedDRA,10010323,Exact +GARD:0001467,OMIM,201710,BTNT +GARD:0001467,OMIM,201810,BTNT +GARD:0001467,OMIM,202110,BTNT +GARD:0001467,OMIM,202010,BTNT +GARD:0001467,MeSH,D000312,Exact +GARD:0001467,ICD-11,5A71.01,Exact +GARD:0001467,ICD-10,E25.0,Exact +GARD:0001467,UMLS,C0001627,Exact +GARD:0001467,SNOMED-CT,237751000,NA +GARD:0001469,Orphanet,90793,Exact +GARD:0001469,UMLS,C0268285,Exact +GARD:0001469,OMIM,202110,Exact +GARD:0001469,ICD-10,E25.0,NTBT +GARD:0001469,SNOMED-CT,124220008,NA +GARD:0001470,OMIM,300042,Exact +GARD:0001470,Orphanet,700,NTBT +GARD:0001470,ICD-10-CM,Q84.0,NA +GARD:0001470,SNOMED-CT,403798006,NA +GARD:0001470,UMLS,C0265992,NA +GARD:0001470,GeneticAlliance,1778,NA +GARD:0001470,SNOMED-CT,2965006,NA +GARD:0001474,Orphanet,1216,Exact +GARD:0001474,OMIM,600175,Exact +GARD:0001474,ICD-10,G12.1,NTBT +GARD:0001474,SNOMED-CT,763067000,NA +GARD:0001475,Orphanet,2040,Exact +GARD:0001475,ICD-10,Q32.4,NTBT +GARD:0001475,SNOMED-CT,818951009,NA +GARD:0001480,SNOMED-CT,276701009,NA +GARD:0001480,Orphanet,294,Exact +GARD:0001480,ICD-11,KA62.3,Exact +GARD:0001480,UMLS,C0349499,Exact +GARD:0001480,ICD-10,P35.1,Exact +GARD:0001481,SNOMED-CT,17190001,NA +GARD:0001481,Orphanet,2140,Exact +GARD:0001481,OMIM,222400,BTNT +GARD:0001481,UMLS,C0235833,Exact +GARD:0001481,ICD-11,LB00.0,Exact +GARD:0001481,OMIM,306950,BTNT +GARD:0001481,OMIM,610187,BTNT +GARD:0001481,ICD-10,Q79.0,Exact +GARD:0001481,MedDRA,10010439,Exact +GARD:0001481,MeSH,C538080,Exact +GARD:0001481,OMIM,142340,Exact +GARD:0001487,Orphanet,442,Exact +GARD:0001487,ICD-10,E00.1,BTNT +GARD:0001487,MeSH,D003409,Exact +GARD:0001487,ICD-10,E00.0,BTNT +GARD:0001487,ICD-10,E00.2,BTNT +GARD:0001487,ICD-10,E03.0,BTNT +GARD:0001487,UMLS,C0010308,Exact +GARD:0001487,MedDRA,10010510,Exact +GARD:0001487,ICD-10,E00.9,BTNT +GARD:0001487,SNOMED-CT,190268003,NA +GARD:0001487,ICD-10,E03.1,BTNT +GARD:0001489,Orphanet,2271,Exact +GARD:0001489,ICD-10,Q87.8,NTBT +GARD:0001493,SNOMED-CT,307604008,NA +GARD:0001493,Orphanet,2665,Exact +GARD:0001493,ICD-10,D41.0,NTBT +GARD:0001493,UMLS,C1332965,Exact +GARD:0001493,MedDRA,10070665,Exact +GARD:0001493,MeSH,D018201,Exact +GARD:0001495,Orphanet,2447,Exact +GARD:0001496,SNOMED-CT,82458004,NA +GARD:0001496,Orphanet,99057,Exact +GARD:0001496,ICD-11,LA87.11,Exact +GARD:0001496,UMLS,C0158618,Exact +GARD:0001496,ICD-10,Q23.2,Exact +GARD:0001500,SNOMED-CT,197601003,NA +GARD:0001500,Orphanet,839,Exact +GARD:0001500,ICD-10,N04.8,NTBT +GARD:0001500,MeSH,C535761,Exact +GARD:0001500,MedDRA,10060740,Exact +GARD:0001500,UMLS,C0403399,Exact +GARD:0001500,OMIM,256300,Exact +GARD:0001502,Orphanet,104008,Exact +GARD:0001502,MeSH,D012778,Exact +GARD:0001502,UMLS,C0036992,Exact +GARD:0001502,MedDRA,10049416,Exact +GARD:0001502,SNOMED-CT,26629001,NA +GARD:0001503,Orphanet,1987,Exact +GARD:0001503,ICD-11,LB9A.8,Exact +GARD:0001503,ICD-10,Q72.4,Exact +GARD:0001503,UMLS,C0345375,Exact +GARD:0001503,SNOMED-CT,93255008,NA +GARD:0001512,Orphanet,972,Exact +GARD:0001512,UMLS,C1834559,Exact +GARD:0001512,ICD-10,G71.1,NTBT +GARD:0001512,OMIM,160120,NTBT +GARD:0001513,Orphanet,725,Exact +GARD:0001513,ICD-10,G40.4,NTBT +GARD:0001513,OMIM,245570,NTBT +GARD:0001515,SNOMED-CT,720746006,NA +GARD:0001515,Orphanet,1484,Exact +GARD:0001515,MeSH,C538135,Exact +GARD:0001515,ICD-10,Q87.8,NTBT +GARD:0001515,OMIM,301815,Exact +GARD:0001515,UMLS,C1844935,Exact +GARD:0001515,UMLS,C2931745,Exact +GARD:0001515,MeSH,C535465,Exact +GARD:0001516,SNOMED-CT,400128006,NA +GARD:0001516,Orphanet,1662,Exact +GARD:0001516,ICD-10,Q82.8,NTBT +GARD:0001516,OMIM,275210,Exact +GARD:0001516,UMLS,C0406585,Exact +GARD:0001518,Orphanet,140927,Exact +GARD:0001518,OMIM,607745,NTBT +GARD:0001518,MedDRA,10067866,Exact +GARD:0001518,UMLS,C0220669,Exact +GARD:0001518,ICD-10,G40.4,NTBT +GARD:0001519,Orphanet,1949,Exact +GARD:0001519,MeSH,D020936,Exact +GARD:0001519,MeSH,C535466,Exact +GARD:0001519,OMIM,269720,BTNT +GARD:0001519,OMIM,608217,BTNT +GARD:0001519,UMLS,C0220669,Exact +GARD:0001519,OMIM,121201,BTNT +GARD:0001519,OMIM,121200,Exact +GARD:0001519,MedDRA,10067866,Exact +GARD:0001519,ICD-10,G40.3,NTBT +GARD:0001519,UMLS,C2930911,Exact +GARD:0001519,SNOMED-CT,230410004,NA +GARD:0001521,SNOMED-CT,59178007,NA +GARD:0001521,Orphanet,565,Exact +GARD:0001521,OMIM,309400,Exact +GARD:0001521,MedDRA,10027294,Exact +GARD:0001521,ICD-10,E83.0,NTBT +GARD:0001521,UMLS,C0022716,Exact +GARD:0001522,Orphanet,1551,Exact +GARD:0001522,OMIM,121270,Exact +GARD:0001522,MeSH,C535468,Exact +GARD:0001522,ICD-10,E83.0,NTBT +GARD:0001522,SNOMED-CT,763531001,NA +GARD:0001522,UMLS,C1852576,Exact +GARD:0001525,SNOMED-CT,720750004,NA +GARD:0001525,Orphanet,3177,Exact +GARD:0001525,ICD-10,G11.1,NTBT +GARD:0001525,UMLS,C1849087,Exact +GARD:0001525,MeSH,C535472,Exact +GARD:0001525,OMIM,271310,Exact +GARD:0001529,Orphanet,1490,Exact +GARD:0001529,OMIM,217400,Exact +GARD:0001529,UMLS,C1857572,Exact +GARD:0001529,SNOMED-CT,720749004,NA +GARD:0001529,ICD-10,H18.5,NTBT +GARD:0001529,MeSH,C535473,Exact +GARD:0001531,SNOMED-CT,723584003,NA +GARD:0001531,Orphanet,3194,Exact +GARD:0001531,UMLS,C1852542,Exact +GARD:0001531,ICD-10,H18.5,NTBT +GARD:0001531,UMLS,C2931506,Exact +GARD:0001531,OMIM,122440,Exact +GARD:0001531,MeSH,C536444,Exact +GARD:0001531,MeSH,C537488,Exact +GARD:0001533,Orphanet,2041,Exact +GARD:0001533,MedDRA,10069441,Exact +GARD:0001533,SNOMED-CT,373093003,NA +GARD:0001533,UMLS,C0265898,Exact +GARD:0001533,ICD-10,Q24.5,NTBT +GARD:0001534,Orphanet,1081,Exact +GARD:0001534,ICD-10,Q24.5,Exact +GARD:0001534,MedDRA,10061060,Exact +GARD:0001534,UMLS,C0158623,Exact +GARD:0001534,ICD-11,LA8C,Exact +GARD:0001534,SNOMED-CT,28574005,NA +GARD:0001537,Orphanet,1496,Exact +GARD:0001537,MeSH,C536446,Exact +GARD:0001537,ICD-10,G60.0,NTBT +GARD:0001537,OMIM,218000,Exact +GARD:0001537,UMLS,C0795950,Exact +GARD:0001544,SNOMED-CT,83799000,NA +GARD:0001544,Orphanet,216694,Exact +GARD:0001544,MedDRA,10011120,Exact +GARD:0001544,ICD-10,Q20.5,Exact +GARD:0001544,UMLS,C0344616,Exact +GARD:0001544,MeSH,C535426,Exact +GARD:0001544,ICD-11,LA85.00,Exact +GARD:0001548,Orphanet,1389,Exact +GARD:0001548,OMIM,218010,Exact +GARD:0001548,ICD-10,Q87.8,NTBT +GARD:0001548,UMLS,C1857568,Exact +GARD:0001548,SNOMED-CT,732251003,NA +GARD:0001550,SNOMED-CT,309776008,NA +GARD:0001550,Orphanet,3071,Exact +GARD:0001550,MedDRA,10067380,Exact +GARD:0001550,OMIM,218040,Exact +GARD:0001550,UMLS,C0587248,Exact +GARD:0001550,ICD-10,Q87.8,NTBT +GARD:0001550,MeSH,D056685,Exact +GARD:0001551,SNOMED-CT,725101002,NA +GARD:0001551,Orphanet,2391,Exact +GARD:0001551,UMLS,C1852523,Exact +GARD:0001551,ICD-10,Q68.8,NTBT +GARD:0001551,OMIM,122580,Exact +GARD:0001551,MeSH,C536448,Exact +GARD:0001555,Orphanet,93333,Exact +GARD:0001555,SNOMED-CT,719299009,NA +GARD:0001555,OMIM,260660,Exact +GARD:0001555,ICD-10,Q87.5,NTBT +GARD:0001555,MeSH,C535550,Exact +GARD:0001555,UMLS,C1850040,Exact +GARD:0001558,Orphanet,1508,Exact +GARD:0001558,SNOMED-CT,732248005,NA +GARD:0001558,ICD-10,Q87.1,NTBT +GARD:0001558,OMIM,122780,Exact +GARD:0001558,UMLS,C1852513,Exact +GARD:0001561,Orphanet,202,Exact +GARD:0001561,UMLS,C0432348,Exact +GARD:0001561,SNOMED-CT,278098005,NA +GARD:0001564,Orphanet,1525,Exact +GARD:0001564,ICD-10,M89.4,NTBT +GARD:0001564,UMLS,C2930922,Exact +GARD:0001564,UMLS,C1531773,Exact +GARD:0001564,OMIM,259100,NTBT +GARD:0001564,UMLS,C2678439,Exact +GARD:0001564,SNOMED-CT,720753002,NA +GARD:0001567,SNOMED-CT,205506004,NA +GARD:0001567,Orphanet,1513,Exact +GARD:0001567,OMIM,218300,BTNT +GARD:0001567,UMLS,C0410539,Exact +GARD:0001567,OMIM,122860,Exact +GARD:0001567,ICD-10,M85.2,NTBT +GARD:0001571,SNOMED-CT,702362004,NA +GARD:0001571,Orphanet,1529,Exact +GARD:0001571,ICD-10,Q87.0,NTBT +GARD:0001571,OMIM,122880,Exact +GARD:0001571,UMLS,C1852510,Exact +GARD:0001571,MeSH,C536453,Exact +GARD:0001575,SNOMED-CT,720755009,NA +GARD:0001575,Orphanet,1516,Exact +GARD:0001575,OMIM,218350,Exact +GARD:0001575,MeSH,C536455,Exact +GARD:0001575,UMLS,C1857511,Exact +GARD:0001575,ICD-10,Q87.0,NTBT +GARD:0001578,SNOMED-CT,715421009,NA +GARD:0001578,Orphanet,1520,Exact +GARD:0001578,MeSH,C536456,Exact +GARD:0001578,OMIM,304110,Exact +GARD:0001578,UMLS,C0220767,Exact +GARD:0001578,ICD-10,Q87.1,NTBT +GARD:0001581,OMIM,123000,Exact +GARD:0001581,Orphanet,1522,NTBT +GARD:0001581,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia,NA +GARD:0001581,GeneticAlliance,1975,NA +GARD:0001581,UMLS,C1852502,NA +GARD:0001581,DiseaseOntology,80801,NA +GARD:0001582,OMIM,218400,Exact +GARD:0001582,Orphanet,1522,NTBT +GARD:0001582,UMLS,C2931244,NA +GARD:0001582,DiseaseOntology,80802,NA +GARD:0001582,GeneticAlliance,1976,NA +GARD:0001583,SNOMED-CT,725098001,NA +GARD:0001583,Orphanet,1524,Exact +GARD:0001583,UMLS,C1865184,Exact +GARD:0001583,OMIM,602558,Exact +GARD:0001583,ICD-10,Q87.0,NTBT +GARD:0001601,Orphanet,1527,Exact +GARD:0001601,UMLS,C1832590,Exact +GARD:0001601,OMIM,185900,NTBT +GARD:0001601,ICD-10,Q87.0,NTBT +GARD:0001601,SNOMED-CT,720818003,NA +GARD:0001602,Orphanet,1225,Exact +GARD:0001602,UMLS,C0265308,Exact +GARD:0001602,MeSH,C536788,Exact +GARD:0001602,ICD-10,Q75.0,NTBT +GARD:0001602,OMIM,218600,Exact +GARD:0001602,SNOMED-CT,77608001,NA +GARD:0001605,Orphanet,1528,Exact +GARD:0001605,MeSH,C535597,Exact +GARD:0001605,OMIM,218670,Exact +GARD:0001605,UMLS,C1857471,Exact +GARD:0001605,ICD-10,Q04.3,NTBT +GARD:0001605,SNOMED-CT,715422002,NA +GARD:0001608,SNOMED-CT,698290008,NA +GARD:0001608,Orphanet,52503,Exact +GARD:0001608,ICD-10,E72.8,NTBT +GARD:0001608,UMLS,C1845862,Exact +GARD:0001608,OMIM,300352,Exact +GARD:0001609,Orphanet,504,Exact +GARD:0001609,MedDRA,10059547,Exact +GARD:0001609,ICD-10,B87.0,NTBT +GARD:0001609,UMLS,C1562462,Exact +GARD:0001609,MeSH,D007815,Exact +GARD:0001609,UMLS,C0546999,Exact +GARD:0001609,SNOMED-CT,417441005,NA +GARD:0001611,Orphanet,1545,Exact +GARD:0001611,OMIM,601378,Exact +GARD:0001611,ICD-10,G90.8,NTBT +GARD:0001611,UMLS,C1832409,Exact +GARD:0001611,MeSH,C536214,Exact +GARD:0001611,SNOMED-CT,725097006,NA +GARD:0001613,Orphanet,891,Exact +GARD:0001613,OMIM,305390,BTNT +GARD:0001613,MeSH,C536382,Exact +GARD:0001613,OMIM,133780,BTNT +GARD:0001613,OMIM,605750,BTNT +GARD:0001613,UMLS,C0339539,Exact +GARD:0001613,OMIM,613310,BTNT +GARD:0001613,OMIM,616468,BTNT +GARD:0001613,UMLS,C1851402,Exact +GARD:0001613,OMIM,601813,BTNT +GARD:0001613,SNOMED-CT,232063007,NA +GARD:0001613,ICD-10,H35.0,NTBT +GARD:0001613,OMIM,617572,BTNT +GARD:0001614,Orphanet,1380,Exact +GARD:0001614,OMIM,218900,Exact +GARD:0001614,ICD-10,Q87.8,NTBT +GARD:0001614,UMLS,C0795914,Exact +GARD:0001614,SNOMED-CT,722381004,NA +GARD:0001617,SNOMED-CT,770409009,NA +GARD:0001617,Orphanet,2935,Exact +GARD:0001617,ICD-10,Q70.4,NTBT +GARD:0001617,UMLS,C1867999,Exact +GARD:0001617,OMIM,175690,Exact +GARD:0001620,SNOMED-CT,719218000,NA +GARD:0001620,Orphanet,1302,Exact +GARD:0001620,UMLS,C0242770,Exact +GARD:0001620,MeSH,D018549,Exact +GARD:0001620,ICD-11,CB03.2,Exact +GARD:0001620,ICD-10,J84.1,NTBT +GARD:0001626,SNOMED-CT,413936007,NA +GARD:0001626,Orphanet,1552,Exact +GARD:0001626,MeSH,C536221,Exact +GARD:0001626,UMLS,C1531773,Exact +GARD:0001626,OMIM,176450,Exact +GARD:0001626,ICD-10,Q87.8,NTBT +GARD:0001629,SNOMED-CT,19362000,NA +GARD:0001629,Orphanet,423717,Exact +GARD:0001629,ICD-10,B76.9,NTBT +GARD:0001629,UMLS,C0546999,Exact +GARD:0001633,SNOMED-CT,720820000,NA +GARD:0001633,Orphanet,2881,Exact +GARD:0001633,UMLS,C1857449,Exact +GARD:0001633,ICD-10,L57.8,NTBT +GARD:0001633,OMIM,219095,Exact +GARD:0001633,MeSH,C536224,Exact +GARD:0001638,Orphanet,357058,Exact +GARD:0001638,UMLS,C0268355,Exact +GARD:0001638,ICD-10,Q82.8,NTBT +GARD:0001638,OMIM,278250,BTNT +GARD:0001638,SNOMED-CT,784381008,NA +GARD:0001638,OMIM,219200,BTNT +GARD:0001639,SNOMED-CT,111388003,NA +GARD:0001639,Orphanet,90348,Exact +GARD:0001639,OMIM,614434,BTNT +GARD:0001639,UMLS,C0268350,Exact +GARD:0001639,ICD-10,Q82.8,NTBT +GARD:0001639,OMIM,123700,BTNT +GARD:0001639,OMIM,616603,BTNT +GARD:0001641,SNOMED-CT,778068007,NA +GARD:0001641,Orphanet,357064,Exact +GARD:0001641,OMIM,612940,Exact +GARD:0001641,UMLS,C2751987,Exact +GARD:0001641,ICD-10,Q82.8,NTBT +GARD:0001643,Orphanet,671,Exact +GARD:0001643,UMLS,C0263417,Exact +GARD:0001643,ICD-10,Q82.8,NTBT +GARD:0001646,Orphanet,3327,Exact +GARD:0001646,UMLS,C1848813,Exact +GARD:0001646,ICD-10,N15.8,NTBT +GARD:0001646,OMIM,274240,Exact +GARD:0001646,SNOMED-CT,733096007,NA +GARD:0001654,Orphanet,229,Exact +GARD:0001654,OMIM,607086,Exact +GARD:0001654,UMLS,C0392775,Exact +GARD:0001654,ICD-10,I71.0,NTBT +GARD:0001654,SNOMED-CT,45894003,NA +GARD:0001666,SNOMED-CT,732926009,NA +GARD:0001666,Orphanet,2181,Exact +GARD:0001666,OMIM,236660,Exact +GARD:0001666,ICD-10,Q87.8,NTBT +GARD:0001666,UMLS,C1856051,Exact +GARD:0001669,SNOMED-CT,733094005,NA +GARD:0001669,Orphanet,1566,Exact +GARD:0001669,ICD-10,Q87.8,NTBT +GARD:0001669,OMIM,220220,Exact +GARD:0001669,MeSH,C535771,Exact +GARD:0001669,UMLS,C1857351,Exact +GARD:0001671,SNOMED-CT,723409007,NA +GARD:0001671,Orphanet,2091,Exact +GARD:0001671,OMIM,138790,Exact +GARD:0001671,UMLS,C1841853,Exact +GARD:0001671,ICD-10,Q87.8,NTBT +GARD:0001680,Orphanet,1570,Exact +GARD:0001680,SNOMED-CT,41878001,NA +GARD:0001680,ICD-11,LB75.2,Exact +GARD:0001680,UMLS,C2931719,Exact +GARD:0001680,ICD-10,Q73.8,NTBT +GARD:0001684,Orphanet,3232,Exact +GARD:0001684,ICD-10,Q87.0,NTBT +GARD:0001684,OMIM,124490,Exact +GARD:0001684,SNOMED-CT,716243005,NA +GARD:0001685,SNOMED-CT,719800009,NA +GARD:0001685,Orphanet,79500,Exact +GARD:0001685,OMIM,220500,Exact +GARD:0001685,ICD-10,Q87.8,NTBT +GARD:0001685,UMLS,C0795927,Exact +GARD:0001686,Orphanet,3241,Exact +GARD:0001686,UMLS,C1852278,Exact +GARD:0001686,ICD-10,Q87.0,NTBT +GARD:0001686,OMIM,125230,Exact +GARD:0001686,SNOMED-CT,716245003,NA +GARD:0001687,Orphanet,3220,Exact +GARD:0001687,OMIM,616617,BTNT +GARD:0001687,OMIM,234580,Exact +GARD:0001687,MeSH,C535994,Exact +GARD:0001687,UMLS,C1856186,Exact +GARD:0001687,SNOMED-CT,721085000,NA +GARD:0001688,Orphanet,3218,Exact +GARD:0001688,UMLS,C1832438,Exact +GARD:0001688,OMIM,601351,Exact +GARD:0001688,SNOMED-CT,716238003,NA +GARD:0001691,Orphanet,90646,Exact +GARD:0001691,SNOMED-CT,718714006,NA +GARD:0001691,ICD-10,H90.6,NTBT +GARD:0001691,OMIM,304350,Exact +GARD:0001691,UMLS,C1844680,Exact +GARD:0001695,SNOMED-CT,766249007,NA +GARD:0001695,Orphanet,2408,Exact +GARD:0001695,UMLS,C2931080,Exact +GARD:0001695,ICD-10,Q87.8,NTBT +GARD:0001696,SNOMED-CT,237687003,NA +GARD:0001696,Orphanet,231679,Exact +GARD:0001696,OMIM,173100,Exact +GARD:0001696,ICD-10,E23.0,NTBT +GARD:0001696,UMLS,C0271567,Exact +GARD:0001697,OMIM,220290,Exact +GARD:0001697,DiseaseOntology,110475,NA +GARD:0001697,UMLS,C2673759,NA +GARD:0001697,GeneticAlliance,8159,NA +GARD:0001698,Orphanet,3230,Exact +GARD:0001698,MeSH,C538049,Exact +GARD:0001698,UMLS,C1857333,Exact +GARD:0001698,OMIM,221740,Exact +GARD:0001698,SNOMED-CT,715527006,NA +GARD:0001705,SNOMED-CT,733069009,NA +GARD:0001705,Orphanet,3239,Exact +GARD:0001705,OMIM,221350,Exact +GARD:0001705,ICD-10,Q87.8,NTBT +GARD:0001705,UMLS,C1857339,Exact +GARD:0001708,OMIM,605192,Exact +GARD:0001708,GeneticAlliance,8138,NA +GARD:0001708,UMLS,C1854594,NA +GARD:0001708,DiseaseOntology,110553,NA +GARD:0001722,SNOMED-CT,239062001,NA +GARD:0001722,Orphanet,315,Exact +GARD:0001722,ICD-10,Q82.8,NTBT +GARD:0001727,Orphanet,3034,Exact +GARD:0001727,ICD-10,Q75.8,NTBT +GARD:0001727,UMLS,C1835030,Exact +GARD:0001727,OMIM,155980,Exact +GARD:0001727,SNOMED-CT,715524004,NA +GARD:0001802,Orphanet,283,Exact +GARD:0001802,ICD-10,B88.0,NTBT +GARD:0001802,UMLS,C3854478,Exact +GARD:0001802,ICD-11,1G07.0,Exact +GARD:0001802,SNOMED-CT,414495006,NA +GARD:0001804,SNOMED-CT,236713006,NA +GARD:0001804,Orphanet,93622,Exact +GARD:0001804,OMIM,300554,BTNT +GARD:0001804,UMLS,C0403720,Exact +GARD:0001804,OMIM,310468,BTNT +GARD:0001804,ICD-10,N25.8,NTBT +GARD:0001804,OMIM,300009,Exact +GARD:0001804,OMIM,308990,BTNT +GARD:0001804,MeSH,C538212,Exact +GARD:0001804,UMLS,C1848336,Exact +GARD:0001806,Orphanet,99791,Exact +GARD:0001806,UMLS,C0399380,Exact +GARD:0001806,OMIM,125420,Exact +GARD:0001806,ICD-10,K00.5,NTBT +GARD:0001806,SNOMED-CT,109494000,NA +GARD:0001807,SNOMED-CT,109493006,NA +GARD:0001807,Orphanet,99789,Exact +GARD:0001807,ICD-10,K00.5,NTBT +GARD:0001807,MeSH,C538215,Exact +GARD:0001807,UMLS,C0399379,Exact +GARD:0001808,Orphanet,99792,Exact +GARD:0001808,ICD-10,K00.5,NTBT +GARD:0001808,UMLS,C1852201,Exact +GARD:0001808,MeSH,C538213,Exact +GARD:0001808,OMIM,125440,Exact +GARD:0001808,SNOMED-CT,770943008,NA +GARD:0001810,Orphanet,3270,Exact +GARD:0001810,UMLS,C2931776,Exact +GARD:0001810,SNOMED-CT,721883006,NA +GARD:0001810,ICD-10,Q87.8,NTBT +GARD:0001810,OMIM,266255,Exact +GARD:0001813,Orphanet,1659,Exact +GARD:0001813,ICD-10,E75.2,NTBT +GARD:0001813,UMLS,C1857314,Exact +GARD:0001813,OMIM,221790,Exact +GARD:0001813,MeSH,C538220,Exact +GARD:0001813,SNOMED-CT,733044009,NA +GARD:0001814,Orphanet,1657,Exact +GARD:0001814,ICD-10,Q82.8,NTBT +GARD:0001814,UMLS,C1857301,Exact +GARD:0001814,MeSH,C535373,Exact +GARD:0001814,OMIM,221810,Exact +GARD:0001814,SNOMED-CT,721090002,NA +GARD:0001815,Orphanet,79149,Exact +GARD:0001815,UMLS,C0432288,Exact +GARD:0001815,OMIM,221800,Exact +GARD:0001815,SNOMED-CT,254150007,NA +GARD:0001816,Orphanet,1660,Exact +GARD:0001816,OMIM,125640,Exact +GARD:0001816,ICD-10,Q82.4,NTBT +GARD:0001816,UMLS,C1852144,Exact +GARD:0001816,SNOMED-CT,721091003,NA +GARD:0001818,Orphanet,1425,Exact +GARD:0001818,MeSH,C535943,Exact +GARD:0001818,OMIM,251450,Exact +GARD:0001818,ICD-10,Q78.8,NTBT +GARD:0001818,OMIM,615777,BTNT +GARD:0001818,UMLS,C0432242,Exact +GARD:0001818,OMIM,300881,BTNT +GARD:0001818,SNOMED-CT,254099008,NA +GARD:0001820,SNOMED-CT,725049005,NA +GARD:0001820,Orphanet,873,Exact +GARD:0001820,ICD-10,D48.1,NTBT +GARD:0001820,UMLS,C0079218,Exact +GARD:0001820,OMIM,135290,BTNT +GARD:0001823,SNOMED-CT,721220004,NA +GARD:0001823,Orphanet,1799,Exact +GARD:0001823,ICD-10,F80.1,NTBT +GARD:0001823,OMIM,600117,Exact +GARD:0001823,UMLS,C1838630,Exact +GARD:0001827,Orphanet,1666,Exact +GARD:0001827,UMLS,C0265863,Exact +GARD:0001827,MeSH,D003914,Exact +GARD:0001827,MedDRA,10012592,Exact +GARD:0001827,ICD-10,Q24.0,Exact +GARD:0001827,UMLS,C0011813,Exact +GARD:0001827,ICD-11,LA80.1,Exact +GARD:0001827,SNOMED-CT,74034002,NA +GARD:0001839,Orphanet,99886,Exact +GARD:0001839,OMIM,610582,BTNT +GARD:0001839,UMLS,C1832386,Exact +GARD:0001839,ICD-11,KB60.20,Exact +GARD:0001839,ICD-10,P70.2,NTBT +GARD:0001839,OMIM,601410,Exact +GARD:0001839,OMIM,610374,BTNT +GARD:0001839,SNOMED-CT,237603002,NA +GARD:0001850,Orphanet,37042,Exact +GARD:0001850,UMLS,C0342288,Exact +GARD:0001850,OMIM,304790,Exact +GARD:0001850,ICD-10,E31.0,NTBT +GARD:0001850,SNOMED-CT,724276006,NA +GARD:0001851,Orphanet,1671,Exact +GARD:0001851,MedDRA,10012750,Exact +GARD:0001851,OMIM,222500,Exact +GARD:0001851,ICD-10,Q06.2,Exact +GARD:0001851,UMLS,C0011999,Exact +GARD:0001855,Orphanet,2195,Exact +GARD:0001855,ICD-10,E72.0,NTBT +GARD:0001855,OMIM,222730,Exact +GARD:0001855,UMLS,C1857253,Exact +GARD:0001855,MeSH,C536171,Exact +GARD:0001855,SNOMED-CT,716747007,NA +GARD:0001859,Orphanet,1916,Exact +GARD:0001859,ICD-10,Q86.8,NTBT +GARD:0001859,ICD-11,LB44.6,Exact +GARD:0001859,UMLS,C0853695,Exact +GARD:0001859,MedDRA,10012780,Exact +GARD:0001859,SNOMED-CT,716005004,NA +GARD:0001861,Orphanet,2123,Exact +GARD:0001861,ICD-10,Q82.8,NTBT +GARD:0001861,SNOMED-CT,254782003,NA +GARD:0001862,SNOMED-CT,716105001,NA +GARD:0001862,Orphanet,2337,Exact +GARD:0001862,UMLS,C1838359,Exact +GARD:0001862,OMIM,600231,Exact +GARD:0001862,UMLS,C1833030,Exact +GARD:0001862,ICD-10,Q82.8,NTBT +GARD:0001872,Orphanet,227,Exact +GARD:0001872,ICD-10,Q55.6,NTBT +GARD:0001872,SNOMED-CT,253851000,NA +GARD:0001874,Orphanet,714,Exact +GARD:0001874,OMIM,222800,Exact +GARD:0001874,ICD-10,D55.2,NTBT +GARD:0001874,SNOMED-CT,62268000,NA +GARD:0001875,Orphanet,1679,Exact +GARD:0001875,UMLS,C0012546,Exact +GARD:0001875,ICD-10,A36.9,BTNT +GARD:0001875,MeSH,D004165,Exact +GARD:0001875,ICD-10,A36.3,BTNT +GARD:0001875,MedDRA,10013023,Exact +GARD:0001875,ICD-10,A36.8,BTNT +GARD:0001875,ICD-10,A36.0,BTNT +GARD:0001875,ICD-10,A36.2,BTNT +GARD:0001875,ICD-10,A36.1,BTNT +GARD:0001876,Orphanet,1681,Exact +GARD:0001876,SNOMED-CT,62192003,NA +GARD:0001883,Orphanet,345,Exact +GARD:0001883,MedDRA,10056961,Exact +GARD:0001883,OMIM,260910,Exact +GARD:0001883,ICD-10,L66.3,Exact +GARD:0001886,SNOMED-CT,770558006,NA +GARD:0001886,Orphanet,98912,Exact +GARD:0001886,ICD-10,G71.8,NTBT +GARD:0001886,UMLS,C1836155,Exact +GARD:0001886,OMIM,609452,Exact +GARD:0001887,Orphanet,600,Exact +GARD:0001887,OMIM,606070,NTBT +GARD:0001887,ICD-10,G71.0,NTBT +GARD:0001887,SNOMED-CT,702383005,NA +GARD:0001891,Orphanet,1685,Exact +GARD:0001891,ICD-10,B66.3,BTNT +GARD:0001891,ICD-10,B66.1,BTNT +GARD:0001891,UMLS,C0040820,Exact +GARD:0001891,ICD-10,B66.8,NTBT +GARD:0001891,ICD-10,B66.5,BTNT +GARD:0001891,SNOMED-CT,26089000,NA +GARD:0001891,ICD-10,B66.2,BTNT +GARD:0001891,ICD-10,B66.0,BTNT +GARD:0001891,ICD-10,B66.4,BTNT +GARD:0001894,SNOMED-CT,719021005,NA +GARD:0001894,Orphanet,3439,Exact +GARD:0001894,UMLS,C1857226,Exact +GARD:0001894,ICD-10,Q87.8,NTBT +GARD:0001894,OMIM,223340,Exact +GARD:0001896,Orphanet,2014,Exact +GARD:0001896,MeSH,D002972,Exact +GARD:0001896,ICD-10,Q35.5,BTNT +GARD:0001896,MedDRA,10009269,Exact +GARD:0001896,ICD-10,Q35.3,BTNT +GARD:0001896,ICD-10,Q35.7,BTNT +GARD:0001896,ICD-10,Q35.9,BTNT +GARD:0001896,UMLS,C0008925,Exact +GARD:0001896,OMIM,119540,Exact +GARD:0001896,ICD-10,Q35.1,BTNT +GARD:0001896,SNOMED-CT,87979003,NA +GARD:0001898,Orphanet,98995,Exact +GARD:0001898,Orphanet,441452,BTNT +GARD:0001898,OMIM,605728,BTNT +GARD:0001898,ICD-10,Q12.0,NTBT +GARD:0001898,OMIM,609376,BTNT +GARD:0001898,OMIM,116400,BTNT +GARD:0001898,OMIM,610019,BTNT +GARD:0001898,OMIM,607304,BTNT +GARD:0001898,MeSH,C535342,Exact +GARD:0001898,SNOMED-CT,21590003,NA +GARD:0001898,OMIM,613763,BTNT +GARD:0001899,Orphanet,2143,Exact +GARD:0001899,MeSH,C536390,Exact +GARD:0001899,ICD-10,Q87.8,NTBT +GARD:0001899,SNOMED-CT,702418009,NA +GARD:0001899,OMIM,222448,Exact +GARD:0001899,UMLS,C1857277,Exact +GARD:0001902,Orphanet,101150,Exact +GARD:0001902,ICD-10,G24.1,NTBT +GARD:0001902,OMIM,605407,Exact +GARD:0001902,UMLS,C2673535,Exact +GARD:0001902,SNOMED-CT,715827001,NA +GARD:0001903,Orphanet,230,Exact +GARD:0001903,OMIM,223360,Exact +GARD:0001903,UMLS,C0342687,Exact +GARD:0001903,ICD-10,G90.8,NTBT +GARD:0001903,MeSH,C535600,Exact +GARD:0001903,SNOMED-CT,237923004,NA +GARD:0001904,Orphanet,99796,Exact +GARD:0001904,OMIM,607432,NTBT +GARD:0001904,UMLS,C1848201,Exact +GARD:0001904,ICD-10,Q04.3,NTBT +GARD:0001904,SNOMED-CT,253152005,NA +GARD:0001904,OMIM,600348,BTNT +GARD:0001904,OMIM,300067,NTBT +GARD:0001907,Orphanet,3427,Exact +GARD:0001907,ICD-10,Q20.2,Exact +GARD:0001907,SNOMED-CT,7368005,NA +GARD:0001907,UMLS,C0265809,Exact +GARD:0001907,ICD-11,LA85.3,Exact +GARD:0001908,Orphanet,3426,Exact +GARD:0001908,ICD-11,LA85.2,Exact +GARD:0001908,UMLS,C0013069,Exact +GARD:0001908,ICD-10,Q20.1,Exact +GARD:0001908,MeSH,D004310,Exact +GARD:0001908,OMIM,217095,NTBT +GARD:0001908,MedDRA,10013611,Exact +GARD:0001908,SNOMED-CT,7484005,NA +GARD:0001910,Orphanet,3411,Exact +GARD:0001910,SNOMED-CT,722431007,NA +GARD:0001910,UMLS,C1860549,Exact +GARD:0001910,OMIM,192050,Exact +GARD:0001912,SNOMED-CT,193411004,NA +GARD:0001912,Orphanet,75376,Exact +GARD:0001912,OMIM,126600,Exact +GARD:0001912,UMLS,C1852021,Exact +GARD:0001912,ICD-10,H35.5,NTBT +GARD:0001912,UMLS,C1832174,Exact +GARD:0001912,OMIM,126700,BTNT +GARD:0001912,UMLS,C1852020,Exact +GARD:0001917,SNOMED-CT,111196000,NA +GARD:0001917,Orphanet,1656,Exact +GARD:0001917,ICD-11,EB44,Exact +GARD:0001917,ICD-10,L13.0,Exact +GARD:0001917,MedDRA,10012468,Exact +GARD:0001917,UMLS,C0011608,Exact +GARD:0001917,MeSH,D003874,Exact +GARD:0001917,OMIM,601230,BTNT +GARD:0001975,Orphanet,237,Exact +GARD:0001975,ICD-11,LB31.5,Exact +GARD:0001975,ICD-10,Q64.7,NTBT +GARD:0001975,UMLS,C0266348,Exact +GARD:0001975,SNOMED-CT,69015003,NA +GARD:0001993,Orphanet,2274,Exact +GARD:0001993,OMIM,242520,Exact +GARD:0001993,UMLS,C1275088,Exact +GARD:0001993,ICD-10,Q87.8,NTBT +GARD:0001993,SNOMED-CT,403779009,NA +GARD:0001994,SNOMED-CT,722433005,NA +GARD:0001994,Orphanet,1765,Exact +GARD:0001994,ICD-10,Q73.8,NTBT +GARD:0001994,UMLS,C1851986,Exact +GARD:0001994,OMIM,127350,Exact +GARD:0001996,Orphanet,241,Exact +GARD:0001996,ICD-10,L81.8,NTBT +GARD:0001996,UMLS,C1306229,Exact +GARD:0001996,OMIM,612715,BTNT +GARD:0001996,OMIM,615402,BTNT +GARD:0001996,OMIM,127500,Exact +GARD:0001996,SNOMED-CT,239082002,NA +GARD:0001998,SNOMED-CT,230782004,NA +GARD:0001998,Orphanet,1766,Exact +GARD:0001998,OMIM,615268,BTNT +GARD:0001998,MeSH,C535731,Exact +GARD:0001998,MedDRA,10013140,Exact +GARD:0001998,OMIM,613227,BTNT +GARD:0001998,ICD-10,G11.8,NTBT +GARD:0001998,OMIM,224050,Exact +GARD:0001998,UMLS,C0394006,Exact +GARD:0001998,OMIM,610185,BTNT +GARD:0001999,Orphanet,85,Exact +GARD:0001999,UMLS,C0002876,Exact +GARD:0001999,ICD-11,3A73,Exact +GARD:0001999,ICD-10,D64.4,Exact +GARD:0001999,MeSH,D000742,Exact +GARD:0001999,SNOMED-CT,52951008,NA +GARD:0002000,Orphanet,98869,Exact +GARD:0002000,OMIM,224120,Exact +GARD:0002000,UMLS,C0271933,Exact +GARD:0002000,OMIM,615631,BTNT +GARD:0002000,ICD-10,D64.4,NTBT +GARD:0002000,SNOMED-CT,59548005,NA +GARD:0002001,Orphanet,98873,Exact +GARD:0002001,OMIM,224100,Exact +GARD:0002001,UMLS,C1306589,Exact +GARD:0002001,ICD-10,D64.4,NTBT +GARD:0002001,SNOMED-CT,68870007,NA +GARD:0002002,SNOMED-CT,26409005,NA +GARD:0002002,Orphanet,98870,Exact +GARD:0002002,OMIM,105600,Exact +GARD:0002002,ICD-10,D64.4,NTBT +GARD:0002002,UMLS,C0271934,Exact +GARD:0002003,Orphanet,207073,Exact +GARD:0002003,UMLS,C2931687,Exact +GARD:0002004,Orphanet,98881,Exact +GARD:0002004,ICD-10,D68.2,NTBT +GARD:0002004,UMLS,C0272350,Exact +GARD:0002004,OMIM,616004,Exact +GARD:0002005,SNOMED-CT,782672006,NA +GARD:0002005,Orphanet,182127,Exact +GARD:0002005,UMLS,C0206660,Exact +GARD:0002005,MedDRA,10018207,Exact +GARD:0002005,ICD-10,C48.8,NTBT +GARD:0002005,ICD-10,C38.3,NTBT +GARD:0002005,MeSH,D018237,Exact +GARD:0002005,ICD-10,C72.9,NTBT +GARD:0002007,OMIM,305000,Exact +GARD:0002007,Orphanet,1775,NTBT +GARD:0002007,SNOMED-CT,707276009,NA +GARD:0002007,DiseaseOntology,70025,NA +GARD:0002007,GeneticAlliance,2385,NA +GARD:0002007,SNOMED-CT,708536001,NA +GARD:0002007,UMLS,C1148551,NA +GARD:0002007,UMLS,C1846142,NA +GARD:0002009,Orphanet,1779,Exact +GARD:0002009,SNOMED-CT,763278004,NA +GARD:0002012,Orphanet,1782,Exact +GARD:0002012,ICD-10,Q78.8,NTBT +GARD:0002012,OMIM,224300,Exact +GARD:0002012,SNOMED-CT,254123002,NA +GARD:0002012,UMLS,C0432262,Exact +GARD:0002013,OMIM,180700,Exact +GARD:0002013,UMLS,C4551475,NA +GARD:0002013,GeneticAlliance,9258,NA +GARD:0002013,UMLS,C0265205,NA +GARD:0002013,ICD-10-CM,Q87.19,NA +GARD:0002013,SNOMED-CT,76520005,NA +GARD:0002013,DiseaseOntology,60766,NA +GARD:0002015,SNOMED-CT,773985008,NA +GARD:0002015,Orphanet,1795,Exact +GARD:0002015,OMIM,170700,Exact +GARD:0002015,ICD-10,Q74.8,NTBT +GARD:0002016,SNOMED-CT,254124008,NA +GARD:0002016,Orphanet,1798,Exact +GARD:0002016,UMLS,C0432263,Exact +GARD:0002016,ICD-10,Q78.8,NTBT +GARD:0002016,OMIM,122900,Exact +GARD:0002019,Orphanet,1822,Exact +GARD:0002019,UMLS,C0432282,Exact +GARD:0002019,OMIM,127800,Exact +GARD:0002019,ICD-10,Q74.8,NTBT +GARD:0002019,MeSH,C537997,Exact +GARD:0002019,SNOMED-CT,205480005,NA +GARD:0002022,Orphanet,2204,Exact +GARD:0002022,ICD-10,M89.8,NTBT +GARD:0002022,SNOMED-CT,783165001,NA +GARD:0002026,Orphanet,1865,Exact +GARD:0002026,OMIM,224410,Exact +GARD:0002026,ICD-10,Q77.7,NTBT +GARD:0002026,SNOMED-CT,765204000,NA +GARD:0002027,Orphanet,256,Exact +GARD:0002027,OMIM,128100,BTNT +GARD:0002027,ICD-10,G24.1,Exact +GARD:0002027,OMIM,602554,BTNT +GARD:0002027,UMLS,C3888090,Exact +GARD:0002027,UMLS,C0013423,Exact +GARD:0002027,UMLS,C1851945,Exact +GARD:0002027,ICD-11,8A02.0Y,NTBT +GARD:0002028,SNOMED-CT,715777007,NA +GARD:0002028,Orphanet,99657,Exact +GARD:0002028,OMIM,224500,Exact +GARD:0002028,ICD-10,G24.1,NTBT +GARD:0002031,Orphanet,207085,Exact +GARD:0002033,Orphanet,2554,Exact +GARD:0002033,OMIM,613800,BTNT +GARD:0002033,OMIM,613805,BTNT +GARD:0002033,OMIM,617063,BTNT +GARD:0002033,OMIM,613803,BTNT +GARD:0002033,MedDRA,10070612,Exact +GARD:0002033,OMIM,613804,BTNT +GARD:0002033,OMIM,616835,BTNT +GARD:0002033,OMIM,224690,BTNT +GARD:0002033,MeSH,C538012,Exact +GARD:0002033,ICD-10,Q87.1,NTBT +GARD:0002033,UMLS,C1868684,Exact +GARD:0002033,SNOMED-CT,703508009,NA +GARD:0002035,Orphanet,319218,Exact +GARD:0002035,MedDRA,10014071,Exact +GARD:0002035,UMLS,C0282687,Exact +GARD:0002035,ICD-10,A98.4,Exact +GARD:0002035,ICD-11,1D60.01,Exact +GARD:0002035,SNOMED-CT,37109004,NA +GARD:0002044,SNOMED-CT,239032007,NA +GARD:0002044,Orphanet,1816,Exact +GARD:0002044,ICD-10,Q82.4,NTBT +GARD:0002044,OMIM,246500,Exact +GARD:0002044,UMLS,C1855504,Exact +GARD:0002045,SNOMED-CT,721208007,NA +GARD:0002045,Orphanet,1806,Exact +GARD:0002045,UMLS,C1849332,Exact +GARD:0002045,ICD-10,Q87.8,NTBT +GARD:0002045,OMIM,268320,Exact +GARD:0002048,Orphanet,1810,Exact +GARD:0002048,UMLS,C0265331,Exact +GARD:0002048,OMIM,129490,BTNT +GARD:0002048,OMIM,617337,BTNT +GARD:0002048,SNOMED-CT,7731005,NA +GARD:0002048,ICD-10,Q82.4,NTBT +GARD:0002048,OMIM,614940,BTNT +GARD:0002049,SNOMED-CT,239050000,NA +GARD:0002049,Orphanet,1882,Exact +GARD:0002049,ICD-10,Q82.4,NTBT +GARD:0002049,OMIM,225050,Exact +GARD:0002049,UMLS,C1857052,Exact +GARD:0002055,SNOMED-CT,734018003,NA +GARD:0002055,Orphanet,1818,Exact +GARD:0002055,OMIM,129510,Exact +GARD:0002055,UMLS,C1851858,Exact +GARD:0002055,ICD-10,Q82.4,NTBT +GARD:0002056,Orphanet,189,Exact +GARD:0002056,UMLS,C0162361,Exact +GARD:0002056,OMIM,129500,Exact +GARD:0002056,ICD-10,Q82.8,NTBT +GARD:0002056,SNOMED-CT,54209007,NA +GARD:0002057,Orphanet,248,Exact +GARD:0002057,OMIM,224900,BTNT +GARD:0002057,OMIM,618535,BTNT +GARD:0002057,MeSH,D053360,Exact +GARD:0002057,UMLS,C0406702,Exact +GARD:0002057,OMIM,614941,BTNT +GARD:0002057,ICD-10,Q82.4,NTBT +GARD:0002057,SNOMED-CT,27025001,NA +GARD:0002060,OMIM,225100,Exact +GARD:0002060,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis,NA +GARD:0002060,GeneticAlliance,2459,NA +GARD:0002060,UMLS,C3541474,NA +GARD:0002060,DiseaseOntology,111149,NA +GARD:0002068,Orphanet,1892,Exact +GARD:0002068,ICD-10,Q73.8,ND (not yet decided/unable to decide) +GARD:0002068,UMLS,C1857040,Exact +GARD:0002068,ICD-10,Q69.9,ND (not yet decided/unable to decide) +GARD:0002068,OMIM,225290,Exact +GARD:0002068,SNOMED-CT,771177009,NA +GARD:0002071,SNOMED-CT,717911008,NA +GARD:0002071,Orphanet,1997,Exact +GARD:0002071,ICD-10,Q87.8,NTBT +GARD:0002071,OMIM,617681,BTNT +GARD:0002071,OMIM,119580,Exact +GARD:0002071,UMLS,C1861536,Exact +GARD:0002074,SNOMED-CT,771178004,NA +GARD:0002074,Orphanet,1895,Exact +GARD:0002074,OMIM,129850,Exact +GARD:0002074,ICD-10,Q95.2,NTBT +GARD:0002074,UMLS,C0795933,Exact +GARD:0002076,SNOMED-CT,39788007,NA +GARD:0002076,Orphanet,1896,Exact +GARD:0002076,OMIM,129900,BTNT +GARD:0002076,OMIM,604292,Exact +GARD:0002076,UMLS,C0406704,Exact +GARD:0002076,UMLS,C1851841,Exact +GARD:0002076,ICD-10,Q82.4,NTBT +GARD:0002078,Orphanet,1897,Exact +GARD:0002078,ICD-10,Q87.8,NTBT +GARD:0002078,UMLS,C1857041,Exact +GARD:0002078,OMIM,225280,Exact +GARD:0002078,SNOMED-CT,720856002,NA +GARD:0002081,SNOMED-CT,30652003,NA +GARD:0002081,Orphanet,285,Exact +GARD:0002081,OMIM,130020,Exact +GARD:0002081,UMLS,C0268337,Exact +GARD:0002081,ICD-10,Q79.6,NTBT +GARD:0002082,SNOMED-CT,17025000,NA +GARD:0002082,Orphanet,286,Exact +GARD:0002082,UMLS,C0268338,Exact +GARD:0002082,OMIM,130050,Exact +GARD:0002082,ICD-10,Q79.6,NTBT +GARD:0002083,SNOMED-CT,718211004,NA +GARD:0002083,Orphanet,536545,Exact +GARD:0002083,ICD-10,Q79.6,NTBT +GARD:0002084,Orphanet,1899,Exact +GARD:0002084,OMIM,130060,Exact +GARD:0002084,ICD-10,Q79.6,NTBT +GARD:0002084,UMLS,C0268345,Exact +GARD:0002084,OMIM,617821,BTNT +GARD:0002084,SNOMED-CT,55711009,NA +GARD:0002088,SNOMED-CT,715318006,NA +GARD:0002088,Orphanet,287,Exact +GARD:0002088,UMLS,C0220679,Exact +GARD:0002088,OMIM,130000,Exact +GARD:0002088,OMIM,130010,Exact +GARD:0002088,ICD-10,Q79.6,NTBT +GARD:0002089,Orphanet,1901,Exact +GARD:0002089,OMIM,225410,Exact +GARD:0002089,ICD-10,Q79.6,NTBT +GARD:0002089,UMLS,C2700425,Exact +GARD:0002092,SNOMED-CT,240626005,NA +GARD:0002092,Orphanet,1902,Exact +GARD:0002092,ICD-10,A48.8,NTBT +GARD:0002092,UMLS,C0085399,Exact +GARD:0002092,MeSH,D016873,Exact +GARD:0002096,SNOMED-CT,720417003,NA +GARD:0002096,Orphanet,221054,Exact +GARD:0002096,OMIM,200995,Exact +GARD:0002096,UMLS,C3495588,Exact +GARD:0002096,ICD-10,Q87.0,NTBT +GARD:0002096,UMLS,C1860157,Exact +GARD:0002098,Orphanet,2516,Exact +GARD:0002098,ICD-10,Q87.8,NTBT +GARD:0002098,UMLS,C2931129,Exact +GARD:0002098,OMIM,601355,Exact +GARD:0002098,SNOMED-CT,719379001,NA +GARD:0002102,Orphanet,98863,Exact +GARD:0002102,OMIM,310300,Exact +GARD:0002102,OMIM,300696,NTBT +GARD:0002102,UMLS,C0751337,Exact +GARD:0002102,ICD-10,G71.0,NTBT +GARD:0002104,Orphanet,1928,Exact +GARD:0002104,MedDRA,10010456,Exact +GARD:0002104,ICD-11,LA75.5,Exact +GARD:0002104,OMIM,130710,Exact +GARD:0002104,MeSH,C535735,Exact +GARD:0002104,ICD-10,Q33.8,NTBT +GARD:0002104,UMLS,C0265797,Exact +GARD:0002104,SNOMED-CT,66987001,NA +GARD:0002108,Orphanet,2396,Exact +GARD:0002108,OMIM,613001,Exact +GARD:0002108,UMLS,C0406612,Exact +GARD:0002108,MeSH,C535736,Exact +GARD:0002108,ICD-10,E88.2,NTBT +GARD:0002108,SNOMED-CT,238905009,NA +GARD:0002113,Orphanet,1261,Exact +GARD:0002113,SNOMED-CT,733049004,NA +GARD:0002113,OMIM,225755,Exact +GARD:0002113,ICD-10,Q04.8,NTBT +GARD:0002113,UMLS,C1856973,Exact +GARD:0002123,SNOMED-CT,726734001,NA +GARD:0002123,Orphanet,1937,Exact +GARD:0002123,OMIM,135950,Exact +GARD:0002123,UMLS,C2931545,Exact +GARD:0002123,ICD-10,Q87.1,NTBT +GARD:0002125,Orphanet,99849,Exact +GARD:0002125,OMIM,612932,Exact +GARD:0002125,ICD-10,E74.0,NTBT +GARD:0002125,UMLS,C2752027,Exact +GARD:0002125,SNOMED-CT,703309000,NA +GARD:0002130,Orphanet,292,Exact +GARD:0002130,ICD-11,KA62.5,Exact +GARD:0002130,ICD-10,P35.8,NTBT +GARD:0002130,SNOMED-CT,716865000,NA +GARD:0002137,Orphanet,257,Exact +GARD:0002137,UMLS,C2931072,Exact +GARD:0002137,OMIM,226670,Exact +GARD:0002137,ICD-10,Q81.0,NTBT +GARD:0002137,SNOMED-CT,723308003,NA +GARD:0002139,Orphanet,231568,Exact +GARD:0002139,ICD-10,Q81.2,NTBT +GARD:0002139,UMLS,C0432322,Exact +GARD:0002139,OMIM,131750,Exact +GARD:0002141,Orphanet,79396,Exact +GARD:0002141,ICD-10,Q81.0,NTBT +GARD:0002141,OMIM,131760,Exact +GARD:0002141,UMLS,C0079295,Exact +GARD:0002141,SNOMED-CT,254179000,NA +GARD:0002143,SNOMED-CT,254192002,NA +GARD:0002143,Orphanet,79405,Exact +GARD:0002143,ICD-10,Q81.8,NTBT +GARD:0002143,OMIM,226650,NTBT +GARD:0002143,UMLS,C2673609,Exact +GARD:0002146,Orphanet,79400,Exact +GARD:0002146,OMIM,131800,Exact +GARD:0002146,ICD-10,Q81.0,NTBT +GARD:0002146,UMLS,C0080333,Exact +GARD:0002147,Orphanet,79399,Exact +GARD:0002147,OMIM,131900,Exact +GARD:0002147,UMLS,C0079299,Exact +GARD:0002147,MeSH,C535961,Exact +GARD:0002147,SNOMED-CT,90496008,NA +GARD:0002147,ICD-10,Q81.0,NTBT +GARD:0002148,Orphanet,79401,Exact +GARD:0002148,MeSH,C535962,Exact +GARD:0002148,ICD-10,Q81.0,NTBT +GARD:0002148,OMIM,131950,Exact +GARD:0002148,UMLS,C0432317,Exact +GARD:0002148,SNOMED-CT,398071000,NA +GARD:0002150,Orphanet,303,Exact +GARD:0002150,ICD-10,Q81.2,Exact +GARD:0002150,UMLS,C0079294,Exact +GARD:0002150,ICD-11,EC32,Exact +GARD:0002150,SNOMED-CT,254185007,NA +GARD:0002152,SNOMED-CT,399971009,NA +GARD:0002152,Orphanet,305,Exact +GARD:0002152,UMLS,C0079301,Exact +GARD:0002152,MeSH,D016109,Exact +GARD:0002153,Orphanet,79404,Exact +GARD:0002153,OMIM,226700,Exact +GARD:0002153,ICD-10,Q81.1,Exact +GARD:0002153,UMLS,C0079683,Exact +GARD:0002153,ICD-11,EC31,NTBT +GARD:0002153,SNOMED-CT,400140006,NA +GARD:0002155,SNOMED-CT,67653003,NA +GARD:0002155,Orphanet,79410,Exact +GARD:0002155,OMIM,131850,Exact +GARD:0002155,UMLS,C0432321,Exact +GARD:0002155,ICD-10,Q81.2,NTBT +GARD:0002162,Orphanet,1941,Exact +GARD:0002162,OMIM,607631,Exact +GARD:0002162,MeSH,C535495,Exact +GARD:0002162,ICD-11,8A61.31,Exact +GARD:0002162,ICD-10,G40.3,NTBT +GARD:0002162,UMLS,C2930918,Exact +GARD:0002162,SNOMED-CT,230413002,NA +GARD:0002166,Orphanet,1459,Exact +GARD:0002166,SNOMED-CT,722386009,NA +GARD:0002166,OMIM,226810,Exact +GARD:0002167,Orphanet,263516,Exact +GARD:0002167,UMLS,C2673257,Exact +GARD:0002167,SNOMED-CT,783064000,NA +GARD:0002167,OMIM,611726,Exact +GARD:0002167,ICD-10,G40.3,NTBT +GARD:0002168,Orphanet,1951,Exact +GARD:0002168,UMLS,C1856929,Exact +GARD:0002168,MeSH,C535497,Exact +GARD:0002168,OMIM,226850,Exact +GARD:0002168,ICD-10,G40.8,NTBT +GARD:0002168,SNOMED-CT,733032006,NA +GARD:0002169,SNOMED-CT,230421008,NA +GARD:0002169,Orphanet,1942,Exact +GARD:0002169,UMLS,C0393702,Exact +GARD:0002169,ICD-10,G40.4,NTBT +GARD:0002169,OMIM,616421,BTNT +GARD:0002169,ICD-11,8A61.22,Exact +GARD:0002169,OMIM,615369,BTNT +GARD:0002169,OMIM,618587,BTNT +GARD:0002170,SNOMED-CT,770623004,NA +GARD:0002170,Orphanet,25968,Exact +GARD:0002170,ICD-10,G40.0,NTBT +GARD:0002170,OMIM,132090,Exact +GARD:0002170,UMLS,C1851549,Exact +GARD:0002173,Orphanet,309,Exact +GARD:0002173,ICD-10,G40.1,NTBT +GARD:0002178,Orphanet,1825,Exact +GARD:0002178,ICD-10,Q87.0,NTBT +GARD:0002178,SNOMED-CT,766870005,NA +GARD:0002180,Orphanet,93308,Exact +GARD:0002180,MeSH,C535501,Exact +GARD:0002180,UMLS,C1838280,Exact +GARD:0002180,ICD-10,Q77.3,NTBT +GARD:0002180,OMIM,132400,Exact +GARD:0002180,SNOMED-CT,715673002,NA +GARD:0002188,SNOMED-CT,238733003,NA +GARD:0002188,Orphanet,222,Exact +GARD:0002188,UMLS,C0406464,Exact +GARD:0002191,OMIM,609536,Exact +GARD:0002191,SNOMED-CT,263661007,NA +GARD:0002191,DiseaseOntology,8158,NA +GARD:0002191,GeneticAlliance,4159,NA +GARD:0002191,UMLS,C0343047,NA +GARD:0002192,SNOMED-CT,722391005,NA +GARD:0002192,Orphanet,1954,Exact +GARD:0002192,MeSH,C535513,Exact +GARD:0002192,ICD-10,Q82.8,NTBT +GARD:0002192,OMIM,227090,Exact +GARD:0002192,UMLS,C1856898,Exact +GARD:0002195,SNOMED-CT,722476007,NA +GARD:0002195,Orphanet,2405,Exact +GARD:0002195,ICD-10,H90.0,NTBT +GARD:0002195,OMIM,128980,Exact +GARD:0002197,SNOMED-CT,422886007,NA +GARD:0002197,Orphanet,1957,Exact +GARD:0002197,ICD-10,C30.0,NTBT +GARD:0002197,UMLS,C0206717,Exact +GARD:0002198,SNOMED-CT,723307008,NA +GARD:0002198,Orphanet,51188,Exact +GARD:0002198,OMIM,602473,Exact +GARD:0002198,UMLS,C1865349,Exact +GARD:0002198,ICD-10,E88.8,NTBT +GARD:0002198,MeSH,C535737,Exact +GARD:0002202,Orphanet,1962,Exact +GARD:0002202,OMIM,133690,Exact +GARD:0002202,UMLS,C1851428,Exact +GARD:0002202,ICD-10,Q87.5,NTBT +GARD:0002202,SNOMED-CT,733416004,NA +GARD:0002204,OMIM,133700,Exact +GARD:0002204,GeneticAlliance,8916,NA +GARD:0002204,UMLS,C0015306,NA +GARD:0002204,ICD-10-CM,Q78.6,NA +GARD:0002204,DiseaseOntology,206,NA +GARD:0002204,SNOMED-CT,254044004,NA +GARD:0002205,OMIM,133701,Exact +GARD:0002205,GeneticAlliance,2676,NA +GARD:0002205,DiseaseOntology,206,NA +GARD:0002205,UMLS,C1851413,NA +GARD:0002205,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hereditary-multiple-osteochondromas,NA +GARD:0002206,OMIM,600209,Exact +GARD:0002206,DiseaseOntology,206,NA +GARD:0002206,UMLS,C1838420,NA +GARD:0002207,Orphanet,322,Exact +GARD:0002207,OMIM,600057,Exact +GARD:0002207,OMIM,258040,BTNT +GARD:0002207,ICD-10,Q64.1,NTBT +GARD:0002207,UMLS,C1838703,Exact +GARD:0002213,SNOMED-CT,771179007,NA +GARD:0002213,Orphanet,1964,Exact +GARD:0002213,UMLS,C1851412,Exact +GARD:0002213,OMIM,133750,Exact +GARD:0002216,SNOMED-CT,733070005,NA +GARD:0002216,Orphanet,3172,Exact +GARD:0002216,OMIM,227210,Exact +GARD:0002216,UMLS,C1856896,Exact +GARD:0002221,SNOMED-CT,782949007,NA +GARD:0002221,Orphanet,1969,Exact +GARD:0002221,ICD-10,Q87.0,NTBT +GARD:0002221,UMLS,C2931183,Exact +GARD:0002221,MeSH,C536384,Exact +GARD:0002222,Orphanet,1970,Exact +GARD:0002222,ICD-10,Q87.8,NTBT +GARD:0002222,OMIM,220219,Exact +GARD:0002222,UMLS,C1857352,Exact +GARD:0002222,SNOMED-CT,733417008,NA +GARD:0002229,Orphanet,1972,Exact +GARD:0002229,UMLS,C1856891,Exact +GARD:0002229,ICD-10,Q87.8,NTBT +GARD:0002229,OMIM,227270,Exact +GARD:0002229,SNOMED-CT,719400000,NA +GARD:0002230,Orphanet,1973,Exact +GARD:0002230,MeSH,C536388,Exact +GARD:0002230,UMLS,C0795936,Exact +GARD:0002230,OMIM,227280,Exact +GARD:0002230,ICD-10,Q87.8,NTBT +GARD:0002230,SNOMED-CT,723333000,NA +GARD:0002237,Orphanet,326,Exact +GARD:0002237,ICD-10,D68.2,NTBT +GARD:0002237,MedDRA,10048930,Exact +GARD:0002237,UMLS,C0015499,Exact +GARD:0002237,OMIM,227400,Exact +GARD:0002237,SNOMED-CT,88776002,NA +GARD:0002238,SNOMED-CT,40855001,NA +GARD:0002238,Orphanet,327,Exact +GARD:0002238,MedDRA,10016079,Exact +GARD:0002238,UMLS,C0015503,Exact +GARD:0002238,ICD-10,D68.2,NTBT +GARD:0002238,OMIM,227500,Exact +GARD:0002245,SNOMED-CT,86299006,NA +GARD:0002245,Orphanet,3303,Exact +GARD:0002245,MedDRA,10016193,Exact +GARD:0002245,OMIM,618780,NTBT +GARD:0002245,MeSH,D013771,Exact +GARD:0002245,OMIM,187500,Exact +GARD:0002245,ICD-10,Q21.3,Exact +GARD:0002245,ICD-11,LA88.2,Exact +GARD:0002245,UMLS,C0039685,Exact +GARD:0002249,SNOMED-CT,764965000,NA +GARD:0002249,Orphanet,91387,Exact +GARD:0002249,OMIM,617168,BTNT +GARD:0002249,OMIM,615436,BTNT +GARD:0002249,OMIM,607086,BTNT +GARD:0002249,OMIM,607087,BTNT +GARD:0002249,OMIM,610168,NTBT +GARD:0002249,OMIM,615582,BTNT +GARD:0002249,OMIM,611788,BTNT +GARD:0002249,OMIM,132900,BTNT +GARD:0002249,OMIM,609192,NTBT +GARD:0002249,ICD-10,I71.2,NTBT +GARD:0002249,OMIM,613780,BTNT +GARD:0002249,OMIM,614816,BTNT +GARD:0002249,OMIM,616166,BTNT +GARD:0002250,OMIM,600348,Exact +GARD:0002250,UMLS,C4284594,NA +GARD:0002250,DiseaseOntology,111169,NA +GARD:0002252,Orphanet,467,Exact +GARD:0002252,ICD-10,E23.0,NTBT +GARD:0002254,Orphanet,922,Exact +GARD:0002254,ICD-10,Q30.8,NTBT +GARD:0002254,SNOMED-CT,763532008,NA +GARD:0002256,SNOMED-CT,723446006,NA +GARD:0002256,Orphanet,93337,Exact +GARD:0002256,OMIM,174600,Exact +GARD:0002256,ICD-10,Q69.0,NTBT +GARD:0002256,UMLS,C1868113,Exact +GARD:0002257,Orphanet,101046,Exact +GARD:0002257,OMIM,616436,BTNT +GARD:0002257,ICD-10,G40.0,NTBT +GARD:0002257,UMLS,C1838062,Exact +GARD:0002257,OMIM,600512,Exact +GARD:0002257,OMIM,616461,BTNT +GARD:0002257,SNOMED-CT,784377008,NA +GARD:0002258,Orphanet,99810,Exact +GARD:0002258,MeSH,C536850,Exact +GARD:0002258,UMLS,C1867983,Exact +GARD:0002258,ICD-10,Q04.6,NTBT +GARD:0002258,OMIM,614483,BTNT +GARD:0002258,OMIM,175780,BTNT +GARD:0002258,SNOMED-CT,330041000119103,NA +GARD:0002259,SNOMED-CT,766927009,NA +GARD:0002259,Orphanet,2456,Exact +GARD:0002259,OMIM,163700,Exact +GARD:0002259,UMLS,C0266011,Exact +GARD:0002259,ICD-10,Q83.3,NTBT +GARD:0002268,Orphanet,2088,Exact +GARD:0002268,UMLS,C3495427,Exact +GARD:0002268,ICD-10,E74.0,NTBT +GARD:0002268,OMIM,227810,Exact +GARD:0002276,SNOMED-CT,724064004,NA +GARD:0002276,Orphanet,2064,Exact +GARD:0002276,ICD-10,Q87.5,NTBT +GARD:0002276,UMLS,C1860464,Exact +GARD:0002276,OMIM,192800,Exact +GARD:0002276,MeSH,C536344,Exact +GARD:0002279,Orphanet,1192,Exact +GARD:0002279,OMIM,209010,Exact +GARD:0002279,SNOMED-CT,720519003,NA +GARD:0002279,UMLS,C2931125,Exact +GARD:0002279,ICD-10,I70.9,NTBT +GARD:0002285,Orphanet,1986,Exact +GARD:0002285,OMIM,228250,Exact +GARD:0002285,ICD-10,Q74.8,NTBT +GARD:0002285,UMLS,C1856789,Exact +GARD:0002285,SNOMED-CT,716006003,NA +GARD:0002286,Orphanet,2019,Exact +GARD:0002286,MeSH,C537918,Exact +GARD:0002286,ICD-10,Q74.8,NTBT +GARD:0002286,OMIM,228200,Exact +GARD:0002286,UMLS,C2363814,Exact +GARD:0002286,MedDRA,10068448,Exact +GARD:0002287,Orphanet,1184,Exact +GARD:0002287,ICD-10,Q87.8,NTBT +GARD:0002287,SNOMED-CT,773769008,NA +GARD:0002293,OMIM,300073,Exact +GARD:0002293,UMLS,C1848171,NA +GARD:0002293,DiseaseOntology,81043,NA +GARD:0002293,GeneticAlliance,2814,NA +GARD:0002294,SNOMED-CT,65986000,NA +GARD:0002294,Orphanet,1908,Exact +GARD:0002294,MedDRA,10071183,Exact +GARD:0002294,ICD-10,Q86.8,NTBT +GARD:0002294,UMLS,C0432367,Exact +GARD:0002295,SNOMED-CT,240305000,NA +GARD:0002295,Orphanet,853,Exact +GARD:0002295,UMLS,C3854603,Exact +GARD:0002295,UMLS,C3853779,Exact +GARD:0002295,ICD-10,P61.0,NTBT +GARD:0002303,Orphanet,1909,Exact +GARD:0002303,ICD-10,Q86.8,NTBT +GARD:0002303,SNOMED-CT,715430001,NA +GARD:0002304,SNOMED-CT,718228001,NA +GARD:0002304,Orphanet,1910,Exact +GARD:0002304,UMLS,C0342200,Exact +GARD:0002304,ICD-10,P72.2,NTBT +GARD:0002304,OMIM,228355,Exact +GARD:0002305,Orphanet,1055,Exact +GARD:0002305,ICD-10,Q24.8,NTBT +GARD:0002308,Orphanet,1918,Exact +GARD:0002308,UMLS,C0432373,Exact +GARD:0002308,ICD-10,Q86.8,NTBT +GARD:0002308,SNOMED-CT,254251003,NA +GARD:0002313,Orphanet,3312,Exact +GARD:0002313,MedDRA,10071249,Exact +GARD:0002313,UMLS,C0432365,Exact +GARD:0002313,ICD-10,Q86.8,NTBT +GARD:0002313,SNOMED-CT,36193003,NA +GARD:0002317,Orphanet,93932,Exact +GARD:0002317,OMIM,305450,Exact +GARD:0002317,UMLS,C0220769,Exact +GARD:0002317,MeSH,C537923,Exact +GARD:0002317,ICD-10,Q87.8,NTBT +GARD:0002320,SNOMED-CT,31925001,NA +GARD:0002320,Orphanet,335,Exact +GARD:0002320,ICD-10,D68.2,NTBT +GARD:0002320,OMIM,202400,BTNT +GARD:0002320,ICD-11,3B14.0,Exact +GARD:0002320,OMIM,616004,BTNT +GARD:0002321,SNOMED-CT,17144009,NA +GARD:0002321,Orphanet,2021,Exact +GARD:0002321,OMIM,614524,BTNT +GARD:0002321,OMIM,228520,Exact +GARD:0002321,UMLS,C0265282,Exact +GARD:0002321,ICD-10,Q77.7,NTBT +GARD:0002322,Orphanet,122,Exact +GARD:0002322,ICD-10,D23.9,NTBT +GARD:0002322,UMLS,C0346010,Exact +GARD:0002322,MedDRA,10067736,Exact +GARD:0002322,OMIM,135150,Exact +GARD:0002322,MeSH,D058249,Exact +GARD:0002322,SNOMED-CT,110985001,NA +GARD:0002324,Orphanet,2026,Exact +GARD:0002324,OMIM,135400,Exact +GARD:0002324,ICD-10,L68.8,NTBT +GARD:0002324,SNOMED-CT,716008002,NA +GARD:0002327,SNOMED-CT,443250000,NA +GARD:0002327,Orphanet,2030,Exact +GARD:0002327,ICD-10,C49.9,NTBT +GARD:0002327,UMLS,C0016057,Exact +GARD:0002327,MeSH,D005354,Exact +GARD:0002327,MedDRA,10016632,Exact +GARD:0002331,Orphanet,1118,Exact +GARD:0002331,MeSH,C537930,Exact +GARD:0002331,OMIM,113310,Exact +GARD:0002331,UMLS,C1862100,Exact +GARD:0002331,ICD-10,Q73.8,NTBT +GARD:0002331,SNOMED-CT,720952001,NA +GARD:0002336,Orphanet,1658,Exact +GARD:0002336,UMLS,C0406707,Exact +GARD:0002336,ICD-10,Q82.8,NTBT +GARD:0002336,OMIM,129200,Exact +GARD:0002336,SNOMED-CT,719595002,NA +GARD:0002339,Orphanet,85448,Exact +GARD:0002339,UMLS,C0936273,Exact +GARD:0002339,ICD-10,E85.1,NTBT +GARD:0002339,OMIM,105120,Exact +GARD:0002339,SNOMED-CT,783160006,NA +GARD:0002342,SNOMED-CT,733089005,NA +GARD:0002342,Orphanet,2820,Exact +GARD:0002342,ICD-10,G11.4,NTBT +GARD:0002342,UMLS,C2931667,Exact +GARD:0002342,OMIM,182690,Exact +GARD:0002344,SNOMED-CT,722209002,NA +GARD:0002344,Orphanet,2824,Exact +GARD:0002344,ICD-10,G82.1,NTBT +GARD:0002344,UMLS,C2745996,Exact +GARD:0002344,OMIM,309560,Exact +GARD:0002346,SNOMED-CT,774065001,NA +GARD:0002346,Orphanet,2045,Exact +GARD:0002346,UMLS,C2931411,Exact +GARD:0002346,ICD-10,L60.8,NTBT +GARD:0002346,MeSH,C537065,Exact +GARD:0002347,Orphanet,2047,Exact +GARD:0002347,SNOMED-CT,239056006,NA +GARD:0002347,ICD-10,Q87.8,NTBT +GARD:0002347,OMIM,136300,Exact +GARD:0002347,MeSH,C537066,Exact +GARD:0002347,UMLS,C0343108,Exact +GARD:0002351,SNOMED-CT,720956003,NA +GARD:0002351,Orphanet,2048,Exact +GARD:0002351,MeSH,C537069,Exact +GARD:0002351,ICD-10,G12.2,NTBT +GARD:0002351,UMLS,C2931412,Exact +GARD:0002356,Orphanet,545,Exact +GARD:0002356,UMLS,C0024301,Exact +GARD:0002356,ICD-10,C82.6,BTNT +GARD:0002356,ICD-10,C82.5,BTNT +GARD:0002356,ICD-10,C82.0,BTNT +GARD:0002356,ICD-10,C82.7,BTNT +GARD:0002356,ICD-10,C82.2,BTNT +GARD:0002356,SNOMED-CT,308121000,NA +GARD:0002356,ICD-10,C82.3,BTNT +GARD:0002356,ICD-10,C82.9,BTNT +GARD:0002356,OMIM,613024,BTNT +GARD:0002356,ICD-10,C82.4,BTNT +GARD:0002356,ICD-10,C82.1,BTNT +GARD:0002356,MeSH,D008224,Exact +GARD:0002362,SNOMED-CT,720612000,NA +GARD:0002362,Orphanet,3238,Exact +GARD:0002362,OMIM,157800,Exact +GARD:0002362,UMLS,C2931461,Exact +GARD:0002362,UMLS,C1834818,Exact +GARD:0002365,Orphanet,2795,Exact +GARD:0002365,ICD-10,N39.8,NTBT +GARD:0002365,UMLS,C2931462,Exact +GARD:0002365,SNOMED-CT,700242002,NA +GARD:0002375,SNOMED-CT,445431000,NA +GARD:0002375,Orphanet,347,Exact +GARD:0002375,ICD-10,N04.1,NTBT +GARD:0002375,UMLS,C0950122,Exact +GARD:0002375,MeSH,D052159,Exact +GARD:0002375,OMIM,136680,Exact +GARD:0002378,SNOMED-CT,716709002,NA +GARD:0002378,Orphanet,100973,Exact +GARD:0002378,OMIM,309548,Exact +GARD:0002380,Orphanet,564003,Exact +GARD:0002380,ICD-10,M92.7,Exact +GARD:0002380,SNOMED-CT,818966007,NA +GARD:0002381,Orphanet,2723,Exact +GARD:0002381,OMIM,273400,Exact +GARD:0002381,SNOMED-CT,239028001,NA +GARD:0002384,SNOMED-CT,771439009,NA +GARD:0002384,Orphanet,264200,Exact +GARD:0002384,ICD-10,Q93.5,NTBT +GARD:0002384,OMIM,609640,Exact +GARD:0002390,SNOMED-CT,716022002,NA +GARD:0002390,Orphanet,1791,Exact +GARD:0002390,UMLS,C2931720,Exact +GARD:0002390,ICD-10,Q75.8,NTBT +GARD:0002390,OMIM,229400,Exact +GARD:0002392,Orphanet,250,Exact +GARD:0002392,MeSH,C538065,Exact +GARD:0002392,UMLS,C1876203,Exact +GARD:0002392,UMLS,C0432106,Exact +GARD:0002392,ICD-10,Q75.8,NTBT +GARD:0002392,SNOMED-CT,254004006,NA +GARD:0002397,SNOMED-CT,721095007,NA +GARD:0002397,Orphanet,2141,Exact +GARD:0002397,OMIM,601163,Exact +GARD:0002397,UMLS,C1832668,Exact +GARD:0002397,ICD-10,Q87.8,NTBT +GARD:0002400,SNOMED-CT,28183005,NA +GARD:0002400,Orphanet,348,Exact +GARD:0002400,ICD-10,E74.1,NTBT +GARD:0002400,UMLS,C0016756,Exact +GARD:0002400,OMIM,229700,Exact +GARD:0002408,Orphanet,2497,Exact +GARD:0002408,ICD-10,Q78.8,NTBT +GARD:0002408,UMLS,C1860614,Exact +GARD:0002408,OMIM,191440,Exact +GARD:0002409,Orphanet,2058,Exact +GARD:0002410,Orphanet,2854,Exact +GARD:0002410,SNOMED-CT,721296004,NA +GARD:0002410,ICD-10,Q74.8,NTBT +GARD:0002410,MeSH,C538189,Exact +GARD:0002410,UMLS,C1856728,Exact +GARD:0002410,OMIM,228930,Exact +GARD:0002417,Orphanet,2579,Exact +GARD:0002417,OMIM,158500,Exact +GARD:0002417,SNOMED-CT,237611007,NA +GARD:0002417,UMLS,C0342281,Exact +GARD:0002417,MeSH,C538193,Exact +GARD:0002417,UMLS,C2931765,Exact +GARD:0002417,ICD-10,G11.1,NTBT +GARD:0002418,Orphanet,591,Exact +GARD:0002418,ICD-10,B87.0,NTBT +GARD:0002418,UMLS,C2931766,Exact +GARD:0002419,Orphanet,2287,Exact +GARD:0002419,OMIM,147251,Exact +GARD:0002419,MeSH,C535997,Exact +GARD:0002419,UMLS,C2931081,Exact +GARD:0002419,UMLS,C3494175,Exact +GARD:0002419,ICD-10,K00.2,NTBT +GARD:0002419,SNOMED-CT,707796002,NA +GARD:0002422,SNOMED-CT,124302001,NA +GARD:0002422,Orphanet,79237,Exact +GARD:0002422,UMLS,C0268155,Exact +GARD:0002422,OMIM,230200,Exact +GARD:0002422,ICD-11,5C51.41,Exact +GARD:0002422,MeSH,C535999,Exact +GARD:0002422,UMLS,C0751158,Exact +GARD:0002422,ICD-10,E74.2,NTBT +GARD:0002424,SNOMED-CT,190745006,NA +GARD:0002424,Orphanet,352,Exact +GARD:0002424,UMLS,C0016952,Exact +GARD:0002424,OMIM,230200,BTNT +GARD:0002424,ICD-10,E74.2,NTBT +GARD:0002424,MedDRA,10017604,Exact +GARD:0002424,OMIM,230350,BTNT +GARD:0002424,OMIM,230400,BTNT +GARD:0002424,MeSH,D005693,Exact +GARD:0002427,Orphanet,3035,Exact +GARD:0002427,OMIM,236640,Exact +GARD:0002427,UMLS,C1856052,Exact +GARD:0002427,ICD-10,Q87.8,NTBT +GARD:0002427,SNOMED-CT,716198008,NA +GARD:0002428,Orphanet,212,Exact +GARD:0002428,UMLS,C0268616,Exact +GARD:0002428,ICD-10,E72.1,NTBT +GARD:0002428,MeSH,C535408,Exact +GARD:0002428,OMIM,219500,Exact +GARD:0002428,SNOMED-CT,13003007,NA +GARD:0002428,UMLS,C0220993,Exact +GARD:0002429,SNOMED-CT,718176005,NA +GARD:0002429,Orphanet,353,Exact +GARD:0002429,UMLS,C0410173,Exact +GARD:0002429,ICD-10,G71.0,NTBT +GARD:0002429,OMIM,253700,Exact +GARD:0002430,Orphanet,251949,Exact +GARD:0002430,SNOMED-CT,87191000119100,NA +GARD:0002430,ICD-10,D33.0,NTBT +GARD:0002430,UMLS,C0206716,Exact +GARD:0002430,MedDRA,10017701,Exact +GARD:0002431,Orphanet,79257,Exact +GARD:0002431,UMLS,C0268273,Exact +GARD:0002431,OMIM,230650,Exact +GARD:0002431,ICD-10,E75.1,NTBT +GARD:0002431,SNOMED-CT,238027003,NA +GARD:0002432,Orphanet,1018,Exact +GARD:0002432,OMIM,308940,Exact +GARD:0002432,ICD-10,Q87.8,NTBT +GARD:0002432,OMIM,150700,BTNT +GARD:0002432,SNOMED-CT,726106004,NA +GARD:0002436,SNOMED-CT,60002000,NA +GARD:0002436,Orphanet,2494,Exact +GARD:0002436,ICD-11,DA42.6,Exact +GARD:0002436,MedDRA,10017807,Exact +GARD:0002436,MedDRA,10017868,Exact +GARD:0002436,OMIM,137280,Exact +GARD:0002436,UMLS,C0017155,Exact +GARD:0002436,UMLS,C2936660,Exact +GARD:0002436,ICD-10,K29.6,NTBT +GARD:0002437,Orphanet,100092,Exact +GARD:0002438,SNOMED-CT,782946000,NA +GARD:0002438,Orphanet,2069,Exact +GARD:0002438,OMIM,137270,Exact +GARD:0002438,UMLS,C1850899,Exact +GARD:0002438,MeSH,C535651,Exact +GARD:0002441,SNOMED-CT,62201009,NA +GARD:0002441,Orphanet,77259,Exact +GARD:0002441,UMLS,C1961835,Exact +GARD:0002441,ICD-10,E75.2,NTBT +GARD:0002441,OMIM,230800,Exact +GARD:0002442,SNOMED-CT,12246008,NA +GARD:0002442,Orphanet,77260,Exact +GARD:0002442,ICD-10,E75.2,NTBT +GARD:0002442,UMLS,C0268250,Exact +GARD:0002442,OMIM,230900,Exact +GARD:0002443,Orphanet,77261,Exact +GARD:0002443,OMIM,231000,Exact +GARD:0002443,UMLS,C0268251,Exact +GARD:0002443,SNOMED-CT,5963005,NA +GARD:0002443,ICD-10,E75.2,NTBT +GARD:0002449,Orphanet,2623,Exact +GARD:0002449,OMIM,614185,BTNT +GARD:0002449,OMIM,617809,BTNT +GARD:0002449,MedDRA,10063361,Exact +GARD:0002449,MeSH,C537677,Exact +GARD:0002449,UMLS,C3489726,Exact +GARD:0002449,ICD-10,Q87.1,NTBT +GARD:0002449,OMIM,231050,BTNT +GARD:0002449,SNOMED-CT,28557005,NA +GARD:0002451,SNOMED-CT,782690007,NA +GARD:0002451,Orphanet,2074,Exact +GARD:0002451,UMLS,C2931587,Exact +GARD:0002451,MeSH,C537678,Exact +GARD:0002452,Orphanet,2084,Exact +GARD:0002452,OMIM,608328,Exact +GARD:0002452,UMLS,C1869115,Exact +GARD:0002452,UMLS,C2931588,Exact +GARD:0002452,ICD-10,Q87.1,NTBT +GARD:0002452,SNOMED-CT,722450007,NA +GARD:0002454,SNOMED-CT,715434005,NA +GARD:0002454,Orphanet,2163,Exact +GARD:0002454,OMIM,601370,Exact +GARD:0002454,ICD-10,Q04.2,NTBT +GARD:0002454,UMLS,C1832424,Exact +GARD:0002456,OMIM,607948,Exact +GARD:0002456,UMLS,C1834752,NA +GARD:0002460,SNOMED-CT,773749003,NA +GARD:0002460,Orphanet,2075,Exact +GARD:0002460,UMLS,C1856466,Exact +GARD:0002460,MeSH,C537683,Exact +GARD:0002460,ICD-10,Q87.8,NTBT +GARD:0002460,OMIM,231060,Exact +GARD:0002462,SNOMED-CT,733037000,NA +GARD:0002462,Orphanet,2077,Exact +GARD:0002462,OMIM,231080,Exact +GARD:0002462,UMLS,C3887495,Exact +GARD:0002462,ICD-10,Q87.8,NTBT +GARD:0002469,Orphanet,626,Exact +GARD:0002469,OMIM,137550,Exact +GARD:0002469,ICD-11,2F20.20,Exact +GARD:0002469,UMLS,C1318558,Exact +GARD:0002469,ICD-10,D22.9,NTBT +GARD:0002469,UMLS,C1842036,Exact +GARD:0002469,MedDRA,10072036,Exact +GARD:0002470,SNOMED-CT,54569005,NA +GARD:0002470,Orphanet,274,Exact +GARD:0002470,MeSH,D001606,Exact +GARD:0002470,UMLS,C0005129,Exact +GARD:0002470,OMIM,231200,Exact +GARD:0002470,MedDRA,10057473,Exact +GARD:0002470,ICD-10,D69.1,NTBT +GARD:0002470,OMIM,153670,BTNT +GARD:0002474,OMIM,605544,Exact +GARD:0002474,DiseaseOntology,60466,NA +GARD:0002474,GeneticAlliance,3058,NA +GARD:0002474,UMLS,C1854181,NA +GARD:0002475,OMIM,611010,Exact +GARD:0002475,UMLS,C1970245,NA +GARD:0002475,GeneticAlliance,3060,NA +GARD:0002475,DiseaseOntology,60466,NA +GARD:0002478,SNOMED-CT,32942005,NA +GARD:0002478,Orphanet,849,Exact +GARD:0002478,UMLS,C0040015,Exact +GARD:0002478,ICD-10,D69.1,NTBT +GARD:0002478,OMIM,273800,BTNT +GARD:0002478,OMIM,619267,BTNT +GARD:0002483,Orphanet,2085,Exact +GARD:0002483,OMIM,137763,Exact +GARD:0002483,UMLS,C1842025,Exact +GARD:0002483,SNOMED-CT,719976001,NA +GARD:0002485,SNOMED-CT,415176004,NA +GARD:0002485,Orphanet,98976,Exact +GARD:0002485,ICD-10,Q15.0,Exact +GARD:0002485,OMIM,600975,BTNT +GARD:0002485,OMIM,617272,BTNT +GARD:0002485,ICD-11,9C61.40,Exact +GARD:0002485,OMIM,613085,BTNT +GARD:0002485,OMIM,231300,Exact +GARD:0002485,UMLS,C0020302,Exact +GARD:0002485,OMIM,613086,BTNT +GARD:0002486,Orphanet,359,Exact +GARD:0002490,OMIM,600975,Exact +GARD:0002490,Orphanet,156005,NTBT +GARD:0002490,UMLS,C1832977,NA +GARD:0002491,Orphanet,360,Exact +GARD:0002491,UMLS,C0017636,Exact +GARD:0002491,MedDRA,10018337,Exact +GARD:0002491,ICD-11,2A00.00,Exact +GARD:0002491,MedDRA,10018336,Exact +GARD:0002491,ICD-10,C71.9,NTBT +GARD:0002491,OMIM,137800,NTBT +GARD:0002491,MeSH,D005909,Exact +GARD:0002491,OMIM,613029,NTBT +GARD:0002491,UMLS,C1621958,Exact +GARD:0002491,SNOMED-CT,393563007,NA +GARD:0002492,OMIM,137940,Exact +GARD:0002492,GeneticAlliance,3082,NA +GARD:0002492,DiseaseOntology,111360,NA +GARD:0002492,SNOMED-CT,723363009,NA +GARD:0002492,UMLS,C1841989,NA +GARD:0002492,UMLS,C4317151,NA +GARD:0002496,Orphanet,97280,Exact +GARD:0002496,MedDRA,10018404,Exact +GARD:0002496,MeSH,D005935,Exact +GARD:0002496,UMLS,C0017689,Exact +GARD:0002496,ICD-10,E16.8,NTBT +GARD:0002496,SNOMED-CT,16424000,NA +GARD:0002498,Orphanet,361,Exact +GARD:0002498,SNOMED-CT,765326001,NA +GARD:0002498,OMIM,607398,BTNT +GARD:0002498,OMIM,202355,BTNT +GARD:0002498,OMIM,202200,Exact +GARD:0002498,OMIM,609197,BTNT +GARD:0002498,OMIM,614736,BTNT +GARD:0002498,ICD-10,E27.1,NTBT +GARD:0002498,OMIM,617825,BTNT +GARD:0002499,Orphanet,786,Exact +GARD:0002499,ICD-10,E25.8,NTBT +GARD:0002499,UMLS,C1841972,Exact +GARD:0002499,OMIM,615962,Exact +GARD:0002499,SNOMED-CT,819950002,NA +GARD:0002513,SNOMED-CT,725026008,NA +GARD:0002513,Orphanet,2089,Exact +GARD:0002513,ICD-10,E74.0,NTBT +GARD:0002513,OMIM,240600,Exact +GARD:0002513,UMLS,C1855861,Exact +GARD:0002515,Orphanet,79259,Exact +GARD:0002515,OMIM,232220,Exact +GARD:0002515,UMLS,C0268146,Exact +GARD:0002515,OMIM,232240,BTNT +GARD:0002515,ICD-10,E74.0,NTBT +GARD:0002520,Orphanet,367,Exact +GARD:0002520,MedDRA,10053249,Exact +GARD:0002520,UMLS,C0017923,Exact +GARD:0002520,UMLS,C1563715,Exact +GARD:0002520,OMIM,263570,BTNT +GARD:0002520,ICD-10,E74.0,NTBT +GARD:0002520,OMIM,232500,BTNT +GARD:0002520,SNOMED-CT,11179002,NA +GARD:0002521,Orphanet,796,Exact +GARD:0002521,OMIM,268800,Exact +GARD:0002521,ICD-10,E75.0,NTBT +GARD:0002521,MeSH,D012497,Exact +GARD:0002521,UMLS,C0036161,Exact +GARD:0002521,SNOMED-CT,23849003,NA +GARD:0002523,Orphanet,2090,Exact +GARD:0002523,UMLS,C1841854,Exact +GARD:0002523,SNOMED-CT,716024001,NA +GARD:0002523,ICD-10,Q87.8,NTBT +GARD:0002523,OMIM,138770,Exact +GARD:0002541,Orphanet,1770,Exact +GARD:0002541,SNOMED-CT,733605002,NA +GARD:0002541,UMLS,C1856272,Exact +GARD:0002541,ICD-10,Q99.1,NTBT +GARD:0002541,OMIM,233430,Exact +GARD:0002542,SNOMED-CT,93466004,NA +GARD:0002542,Orphanet,2855,Exact +GARD:0002542,OMIM,614129,BTNT +GARD:0002542,ICD-10,Q87.8,NTBT +GARD:0002542,OMIM,233400,Exact +GARD:0002542,UMLS,C0685838,Exact +GARD:0002542,OMIM,615300,BTNT +GARD:0002542,OMIM,614926,BTNT +GARD:0002542,OMIM,616138,BTNT +GARD:0002542,OMIM,617565,BTNT +GARD:0002546,SNOMED-CT,231858009,NA +GARD:0002546,Orphanet,1482,Exact +GARD:0002546,UMLS,C0339166,Exact +GARD:0002546,ICD-10,H13.1*,Exact +GARD:0002546,ICD-10,A54.3+,Exact +GARD:0002546,ICD-11,1A72.4,NTBT +GARD:0002549,Orphanet,65798,Exact +GARD:0002549,UMLS,C0265303,Exact +GARD:0002549,ICD-10,Q87.0,NTBT +GARD:0002549,OMIM,201020,Exact +GARD:0002549,SNOMED-CT,733425005,NA +GARD:0002551,SNOMED-CT,50581000,NA +GARD:0002551,Orphanet,375,Exact +GARD:0002551,ICD-10,M31.0+,Exact +GARD:0002551,ICD-11,MF85,Exact +GARD:0002551,ICD-10,N08.5*,Exact +GARD:0002551,MedDRA,10018620,Exact +GARD:0002551,OMIM,233450,Exact +GARD:0002551,UMLS,C0403529,Exact +GARD:0002553,Orphanet,376,Exact +GARD:0002553,OMIM,114300,Exact +GARD:0002553,MeSH,C537288,Exact +GARD:0002553,UMLS,C0220666,Exact +GARD:0002553,ICD-10,Q68.8,NTBT +GARD:0002557,Orphanet,2111,Exact +GARD:0002557,ICD-10,Q85.8,NTBT +GARD:0002557,UMLS,C2931468,Exact +GARD:0002557,SNOMED-CT,707530009,NA +GARD:0002559,Orphanet,2097,Exact +GARD:0002559,UMLS,C1841835,Exact +GARD:0002559,SNOMED-CT,723827003,NA +GARD:0002559,OMIM,138930,Exact +GARD:0002559,MeSH,C537293,Exact +GARD:0002559,ICD-10,Q87.5,NTBT +GARD:0002562,Orphanet,721,Exact +GARD:0002562,ICD-10,D69.1,NTBT +GARD:0002562,OMIM,139090,Exact +GARD:0002562,UMLS,C2717750,Exact +GARD:0002562,UMLS,C0272302,Exact +GARD:0002562,OMIM,187900,BTNT +GARD:0002562,MeSH,D055652,Exact +GARD:0002562,SNOMED-CT,51720005,NA +GARD:0002566,Orphanet,79476,Exact +GARD:0002566,MeSH,C537301,Exact +GARD:0002566,ICD-10,E70.3,NTBT +GARD:0002566,OMIM,214450,Exact +GARD:0002566,UMLS,C1859194,Exact +GARD:0002568,SNOMED-CT,733071009,NA +GARD:0002568,Orphanet,3217,Exact +GARD:0002568,UMLS,C1857338,Exact +GARD:0002568,OMIM,221400,Exact +GARD:0002568,ICD-10,G60.8,NTBT +GARD:0002572,SNOMED-CT,699316006,NA +GARD:0002572,Orphanet,2588,Exact +GARD:0002572,OMIM,139210,Exact +GARD:0002572,ICD-10,Q87.8,NTBT +GARD:0002572,UMLS,C0796081,Exact +GARD:0002576,Orphanet,2101,Exact +GARD:0002576,ICD-10,Q87.8,NTBT +GARD:0002576,SNOMED-CT,763186006,NA +GARD:0002576,MeSH,C537621,Exact +GARD:0002576,UMLS,C2931551,Exact +GARD:0002576,OMIM,233810,Exact +GARD:0002578,Orphanet,382,Exact +GARD:0002578,MeSH,C537622,Exact +GARD:0002578,ICD-10,E72.8,NTBT +GARD:0002578,UMLS,C0574080,Exact +GARD:0002578,OMIM,612736,Exact +GARD:0002578,SNOMED-CT,124239003,NA +GARD:0002579,OMIM,259700,Exact +GARD:0002579,UMLS,C1850127,NA +GARD:0002579,DiseaseOntology,110942,NA +GARD:0002579,UMLS,C4551971,NA +GARD:0002579,GeneticAlliance,5477,NA +GARD:0002580,Orphanet,1661,Exact +GARD:0002580,ICD-10,Q13.4,NTBT +GARD:0002580,OMIM,304730,Exact +GARD:0002580,SNOMED-CT,715426004,NA +GARD:0002580,UMLS,C1844671,Exact +GARD:0002586,SNOMED-CT,721008000,NA +GARD:0002586,Orphanet,2107,Exact +GARD:0002586,OMIM,234250,Exact +GARD:0002586,ICD-10,Q87.8,NTBT +GARD:0002586,UMLS,C1856198,Exact +GARD:0002589,Orphanet,2926,Exact +GARD:0002589,SNOMED-CT,771261002,NA +GARD:0002589,UMLS,C2930955,Exact +GARD:0002589,ICD-10,Q87.8,NTBT +GARD:0002589,OMIM,207740,Exact +GARD:0002593,Orphanet,1927,Exact +GARD:0002593,ICD-10,Q87.8,NTBT +GARD:0002593,SNOMED-CT,773768000,NA +GARD:0002593,OMIM,139750,Exact +GARD:0002593,UMLS,C1841693,Exact +GARD:0002594,Orphanet,2438,Exact +GARD:0002594,OMIM,140000,Exact +GARD:0002594,UMLS,C1841679,Exact +GARD:0002594,MedDRA,10072361,Exact +GARD:0002594,ICD-10,Q51.2,NTBT +GARD:0002594,SNOMED-CT,702425002,NA +GARD:0002597,SNOMED-CT,782937006,NA +GARD:0002597,Orphanet,3294,Exact +GARD:0002597,OMIM,187390,Exact +GARD:0002597,UMLS,C2931376,Exact +GARD:0002598,Orphanet,2812,Exact +GARD:0002598,OMIM,260530,Exact +GARD:0002598,UMLS,C1850079,Exact +GARD:0002598,ICD-10,L91.8,NTBT +GARD:0002598,SNOMED-CT,783013001,NA +GARD:0002599,Orphanet,899,Exact +GARD:0002599,OMIM,613153,BTNT +GARD:0002599,UMLS,C0265221,Exact +GARD:0002599,OMIM,613154,BTNT +GARD:0002599,OMIM,615041,BTNT +GARD:0002599,OMIM,615181,BTNT +GARD:0002599,OMIM,614830,BTNT +GARD:0002599,MeSH,D058494,Exact +GARD:0002599,OMIM,615287,BTNT +GARD:0002599,OMIM,613150,BTNT +GARD:0002599,OMIM,615249,BTNT +GARD:0002599,ICD-10,G71.0,NTBT +GARD:0002599,OMIM,253800,BTNT +GARD:0002599,OMIM,616538,BTNT +GARD:0002599,OMIM,618135,BTNT +GARD:0002599,OMIM,253280,BTNT +GARD:0002599,OMIM,236670,NTBT +GARD:0002599,OMIM,614643,BTNT +GARD:0002599,SNOMED-CT,111504002,NA +GARD:0002600,Orphanet,1177,Exact +GARD:0002600,OMIM,212895,Exact +GARD:0002600,UMLS,C0393520,Exact +GARD:0002600,ICD-10,G11.1,NTBT +GARD:0002600,MeSH,C535633,Exact +GARD:0002601,SNOMED-CT,716089008,NA +GARD:0002601,Orphanet,2115,Exact +GARD:0002601,OMIM,601095,Exact +GARD:0002601,ICD-10,Q87.8,NTBT +GARD:0002605,Orphanet,2994,Exact +GARD:0002605,UMLS,C1867443,Exact +GARD:0002605,ICD-10,Q87.8,NTBT +GARD:0002605,SNOMED-CT,716090004,NA +GARD:0002605,OMIM,177980,Exact +GARD:0002610,OMIM,604559,Exact +GARD:0002610,Orphanet,871,NTBT +GARD:0002610,DiseaseOntology,111076,NA +GARD:0002610,GeneticAlliance,5979,NA +GARD:0002610,SNOMED-CT,698250005,NA +GARD:0002610,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/progressive-familial-heart-block,NA +GARD:0002610,UMLS,C1970298,NA +GARD:0002613,SNOMED-CT,721009008,NA +GARD:0002613,Orphanet,1354,Exact +GARD:0002613,ICD-10,Q87.2,NTBT +GARD:0002613,MeSH,C535850,Exact +GARD:0002613,UMLS,C1859327,Exact +GARD:0002613,OMIM,212135,Exact +GARD:0002614,Orphanet,1342,Exact +GARD:0002614,SNOMED-CT,721013001,NA +GARD:0002614,UMLS,C1841657,Exact +GARD:0002614,OMIM,140450,Exact +GARD:0002614,ICD-10,Q87.2,NTBT +GARD:0002620,SNOMED-CT,721015008,NA +GARD:0002620,Orphanet,2119,Exact +GARD:0002620,OMIM,600559,Exact +GARD:0002620,ICD-10,Q87.8,NTBT +GARD:0002620,UMLS,C1833607,Exact +GARD:0002621,Orphanet,3377,Exact +GARD:0002621,UMLS,C0265226,Exact +GARD:0002621,ICD-10,Q68.8,NTBT +GARD:0002621,OMIM,158300,Exact +GARD:0002621,SNOMED-CT,8757006,NA +GARD:0002622,Orphanet,2492,Exact +GARD:0002622,UMLS,C2931047,Exact +GARD:0002622,SNOMED-CT,783156008,NA +GARD:0002622,ICD-10,Q87.2,NTBT +GARD:0002627,OMIM,234820,Exact +GARD:0002627,Orphanet,2126,NTBT +GARD:0002627,UMLS,C0334542,NA +GARD:0002630,Orphanet,2128,Exact +GARD:0002630,MedDRA,10019463,Exact +GARD:0002630,SNOMED-CT,205838004,NA +GARD:0002630,OMIM,235000,Exact +GARD:0002630,UMLS,C0332890,Exact +GARD:0002630,UMLS,C1856184,Exact +GARD:0002630,ICD-10,Q87.3,NTBT +GARD:0002633,Orphanet,1241,Exact +GARD:0002633,ICD-10,Q67.4,NTBT +GARD:0002633,OMIM,141350,Exact +GARD:0002633,UMLS,C1841640,Exact +GARD:0002633,SNOMED-CT,733046006,NA +GARD:0002637,Orphanet,99802,Exact +GARD:0002637,SNOMED-CT,253170008,NA +GARD:0002637,ICD-10,Q04.5,NTBT +GARD:0002637,UMLS,C0431391,Exact +GARD:0002638,OMIM,141500,Exact +GARD:0002638,Orphanet,569,NTBT +GARD:0002638,UMLS,C1832884,NA +GARD:0002638,DiseaseOntology,111181,NA +GARD:0002640,SNOMED-CT,51053007,NA +GARD:0002640,Orphanet,2132,Exact +GARD:0002640,MeSH,D006445,Exact +GARD:0002640,ICD-10,D58.2,NTBT +GARD:0002640,UMLS,C0019021,Exact +GARD:0002640,MedDRA,10018883,Exact +GARD:0002641,Orphanet,2133,Exact +GARD:0002641,MedDRA,10053215,Exact +GARD:0002641,UMLS,C0238159,Exact +GARD:0002641,ICD-11,3A51.A,Exact +GARD:0002641,ICD-10,D58.2,NTBT +GARD:0002641,SNOMED-CT,25065001,NA +GARD:0002642,Orphanet,1046,Exact +GARD:0002642,ICD-10,D58.8,NTBT +GARD:0002642,UMLS,C1838120,Exact +GARD:0002642,OMIM,600461,Exact +GARD:0002642,SNOMED-CT,719402008,NA +GARD:0002650,Orphanet,3325,Exact +GARD:0002650,UMLS,C0272285,Exact +GARD:0002650,SNOMED-CT,73397007,NA +GARD:0002650,MedDRA,10062506,Exact +GARD:0002650,ICD-10,D69.5,NTBT +GARD:0002651,Orphanet,386,Exact +GARD:0002651,UMLS,C0334091,Exact +GARD:0002651,ICD-10,D13.4,BTNT +GARD:0002651,SNOMED-CT,715397000,NA +GARD:0002657,Orphanet,449,Exact +GARD:0002657,ICD-11,2C12.01,Exact +GARD:0002657,UMLS,C0206624,Exact +GARD:0002657,OMIM,114550,NTBT +GARD:0002657,ICD-10,C22.2,Exact +GARD:0002657,MedDRA,10062001,Exact +GARD:0002657,MeSH,D018197,Exact +GARD:0002657,SNOMED-CT,109843000,NA +GARD:0002658,SNOMED-CT,410056006,NA +GARD:0002658,Orphanet,882,Exact +GARD:0002658,UMLS,C0268490,Exact +GARD:0002658,MedDRA,10069462,Exact +GARD:0002658,ICD-10,E70.2,NTBT +GARD:0002658,OMIM,276700,Exact +GARD:0002659,Orphanet,621,Exact +GARD:0002659,ICD-11,3A92,Exact +GARD:0002659,OMIM,250790,BTNT +GARD:0002659,UMLS,C0272087,Exact +GARD:0002659,ICD-10,D74.0,NTBT +GARD:0002659,OMIM,250800,BTNT +GARD:0002659,OMIM,250700,BTNT +GARD:0002659,SNOMED-CT,267550008,NA +GARD:0002682,Orphanet,1808,Exact +GARD:0002682,UMLS,C1832411,Exact +GARD:0002682,ICD-10,Q82.8,NTBT +GARD:0002682,MeSH,C536180,Exact +GARD:0002682,OMIM,601375,Exact +GARD:0002682,SNOMED-CT,771239007,NA +GARD:0002684,SNOMED-CT,27312002,NA +GARD:0002684,Orphanet,483,Exact +GARD:0002684,UMLS,C0272340,Exact +GARD:0002684,OMIM,228960,Exact +GARD:0002684,ICD-10,D68.8,NTBT +GARD:0002690,SNOMED-CT,721148005,NA +GARD:0002690,Orphanet,2114,Exact +GARD:0002690,UMLS,C1840572,Exact +GARD:0002690,OMIM,142669,Exact +GARD:0002690,ICD-10,Q65.8,NTBT +GARD:0002695,SNOMED-CT,783737007,NA +GARD:0002695,Orphanet,2151,Exact +GARD:0002695,ICD-10,Q43.1,NTBT +GARD:0002695,UMLS,C2751683,Exact +GARD:0002695,MeSH,C538119,Exact +GARD:0002700,Orphanet,2150,Exact +GARD:0002700,OMIM,306980,Exact +GARD:0002700,SNOMED-CT,721222007,NA +GARD:0002700,UMLS,C1844017,Exact +GARD:0002700,ICD-10,Q43.1,NTBT +GARD:0002700,MeSH,C538319,Exact +GARD:0002706,Orphanet,3283,Exact +GARD:0002706,ICD-10,I47.1,Exact +GARD:0002706,UMLS,C0039235,Exact +GARD:0002706,SNOMED-CT,233901002,NA +GARD:0002708,Orphanet,2158,Exact +GARD:0002708,OMIM,235830,Exact +GARD:0002708,ICD-10,E70.8,NTBT +GARD:0002708,MeSH,C538321,Exact +GARD:0002708,UMLS,C0268642,Exact +GARD:0002712,Orphanet,35701,Exact +GARD:0002712,OMIM,605911,Exact +GARD:0002712,UMLS,C2751532,Exact +GARD:0002712,ICD-10,E71.3,NTBT +GARD:0002712,SNOMED-CT,725286002,NA +GARD:0002714,Orphanet,98293,Exact +GARD:0002714,UMLS,C0019829,Exact +GARD:0002721,Orphanet,79242,Exact +GARD:0002721,MeSH,D028922,Exact +GARD:0002721,ICD-10,E53.8,NTBT +GARD:0002721,OMIM,253270,Exact +GARD:0002721,UMLS,C0268581,Exact +GARD:0002721,SNOMED-CT,360369003,NA +GARD:0002722,Orphanet,2165,Exact +GARD:0002722,ICD-10,Q04.2,NTBT +GARD:0002722,SNOMED-CT,771146007,NA +GARD:0002725,Orphanet,2117,Exact +GARD:0002725,OMIM,615465,Exact +GARD:0002725,ICD-10,Q87.8,NTBT +GARD:0002725,UMLS,C1845146,Exact +GARD:0002725,SNOMED-CT,766032007,NA +GARD:0002727,Orphanet,3186,Exact +GARD:0002727,UMLS,C1866649,Exact +GARD:0002727,ICD-10,Q87.8,NTBT +GARD:0002727,OMIM,184705,Exact +GARD:0002727,SNOMED-CT,716233007,NA +GARD:0002728,Orphanet,2167,Exact +GARD:0002728,SNOMED-CT,783159001,NA +GARD:0002728,MeSH,C535327,Exact +GARD:0002728,OMIM,236110,Exact +GARD:0002728,UMLS,C1856095,Exact +GARD:0002728,ICD-10,Q87.8,NTBT +GARD:0002734,SNOMED-CT,41797007,NA +GARD:0002734,Orphanet,395,Exact +GARD:0002734,UMLS,C1856061,Exact +GARD:0002734,ICD-10,E72.1,NTBT +GARD:0002734,OMIM,236250,Exact +GARD:0002742,Orphanet,1352,Exact +GARD:0002742,UMLS,C1838606,Exact +GARD:0002742,ICD-10,Q87.8,NTBT +GARD:0002742,OMIM,600123,Exact +GARD:0002742,SNOMED-CT,763066009,NA +GARD:0002748,SNOMED-CT,205329008,NA +GARD:0002748,Orphanet,3265,Exact +GARD:0002748,ICD-10,Q74.0,NTBT +GARD:0002748,ICD-11,LB90.1,Exact +GARD:0002748,OMIM,236400,Exact +GARD:0002748,UMLS,C0431800,Exact +GARD:0002748,OMIM,143050,Exact +GARD:0002749,Orphanet,3266,Exact +GARD:0002749,ICD-11,LB90.0,Exact +GARD:0002749,ICD-10,Q74.0,NTBT +GARD:0002749,SNOMED-CT,773733000,NA +GARD:0002750,Orphanet,3383,Exact +GARD:0002750,OMIM,191000,Exact +GARD:0002750,SNOMED-CT,732928005,NA +GARD:0002750,UMLS,C1860773,Exact +GARD:0002750,ICD-10,Q74.0,NTBT +GARD:0002754,Orphanet,97340,Exact +GARD:0002754,OMIM,601379,Exact +GARD:0002754,UMLS,C1832408,Exact +GARD:0002754,ICD-10,Q87.0,NTBT +GARD:0002754,MeSH,C536072,Exact +GARD:0002754,SNOMED-CT,721227001,NA +GARD:0002756,Orphanet,3365,Exact +GARD:0002756,ICD-10,Q87.0,NTBT +GARD:0002756,SNOMED-CT,719949001,NA +GARD:0002764,Orphanet,400,Exact +GARD:0002764,SNOMED-CT,74942003,NA +GARD:0002764,ICD-10,B67.5,BTNT +GARD:0002764,UMLS,C0013502,Exact +GARD:0002764,ICD-10,B67.8,BTNT +GARD:0002764,ICD-10,B67.2,BTNT +GARD:0002764,ICD-10,B67.1,BTNT +GARD:0002764,ICD-10,B67.9,BTNT +GARD:0002764,ICD-10,B67.4,BTNT +GARD:0002764,ICD-10,B67.0,BTNT +GARD:0002764,MeSH,D004443,Exact +GARD:0002764,ICD-10,B67.7,BTNT +GARD:0002764,ICD-10,B67.6,BTNT +GARD:0002764,ICD-10,B67.3,BTNT +GARD:0002764,MedDRA,10014096,Exact +GARD:0002765,SNOMED-CT,719812008,NA +GARD:0002765,Orphanet,2898,Exact +GARD:0002765,UMLS,C2931516,Exact +GARD:0002765,OMIM,300064,Exact +GARD:0002765,ICD-10,Q87.0,NTBT +GARD:0002775,SNOMED-CT,721231007,NA +GARD:0002775,Orphanet,2183,Exact +GARD:0002783,SNOMED-CT,276508000,NA +GARD:0002783,Orphanet,1041,Exact +GARD:0002783,ICD-10,P56.0,BTNT +GARD:0002783,UMLS,C0020305,Exact +GARD:0002783,ICD-10,P83.2,BTNT +GARD:0002783,MedDRA,10020529,Exact +GARD:0002783,MeSH,D015160,Exact +GARD:0002783,ICD-10,P56.9,BTNT +GARD:0002783,OMIM,236750,BTNT +GARD:0002787,Orphanet,401,Exact +GARD:0002787,ICD-11,1F74,Exact +GARD:0002787,ICD-10,B71.0,Exact +GARD:0002787,MeSH,D006925,Exact +GARD:0002787,UMLS,C0020413,Exact +GARD:0002787,MedDRA,10020546,Exact +GARD:0002787,SNOMED-CT,44917000,NA +GARD:0002788,Orphanet,343,Exact +GARD:0002788,UMLS,C0398691,Exact +GARD:0002788,ICD-10,E85.0,NTBT +GARD:0002788,OMIM,260920,Exact +GARD:0002788,SNOMED-CT,403834003,NA +GARD:0002789,Orphanet,404,Exact +GARD:0002789,OMIM,605635,Exact +GARD:0002789,UMLS,C1854107,Exact +GARD:0002789,ICD-10,E26.0,NTBT +GARD:0002790,SNOMED-CT,703232003,NA +GARD:0002790,Orphanet,403,Exact +GARD:0002790,UMLS,C1260386,Exact +GARD:0002790,ICD-10,E26.0,NTBT +GARD:0002790,OMIM,103900,Exact +GARD:0002791,SNOMED-CT,47444008,NA +GARD:0002791,Orphanet,2312,Exact +GARD:0002791,ICD-10,P59.8,NTBT +GARD:0002791,OMIM,237900,Exact +GARD:0002791,UMLS,C0270210,Exact +GARD:0002793,Orphanet,234,Exact +GARD:0002793,MedDRA,10013800,Exact +GARD:0002793,UMLS,C0022350,Exact +GARD:0002793,ICD-11,5C58.02,Exact +GARD:0002793,OMIM,237500,Exact +GARD:0002793,ICD-10,E80.6,NTBT +GARD:0002793,MeSH,D007566,Exact +GARD:0002793,SNOMED-CT,44553005,NA +GARD:0002796,Orphanet,93372,Exact +GARD:0002796,UMLS,C0342637,Exact +GARD:0002796,OMIM,145980,Exact +GARD:0002796,UMLS,C1809471,Exact +GARD:0002796,ICD-10,E83.5,NTBT +GARD:0002796,MedDRA,10068704,Exact +GARD:0002796,MeSH,C537145,Exact +GARD:0002804,Orphanet,168956,Exact +GARD:0002804,ICD-10,D47.5,Exact +GARD:0002804,UMLS,C1540912,Exact +GARD:0002804,ICD-11,XH51D2,NTBT +GARD:0002804,MeSH,D017681,Exact +GARD:0002804,MedDRA,10048643,Exact +GARD:0002806,Orphanet,163,Exact +GARD:0002806,UMLS,C1833213,Exact +GARD:0002806,SNOMED-CT,702398007,NA +GARD:0002806,OMIM,600886,NTBT +GARD:0002806,ICD-10,H26.0,NTBT +GARD:0002806,MeSH,C538137,Exact +GARD:0002807,Orphanet,408,Exact +GARD:0002807,ICD-10,E74.8,NTBT +GARD:0002807,OMIM,307030,Exact +GARD:0002807,MeSH,C538138,Exact +GARD:0002807,UMLS,C0268418,Exact +GARD:0002807,UMLS,C0574108,Exact +GARD:0002807,SNOMED-CT,297256008,NA +GARD:0002816,Orphanet,217390,Exact +GARD:0002816,ICD-10,D81.1,NTBT +GARD:0002816,OMIM,243700,Exact +GARD:0002818,SNOMED-CT,717182006,NA +GARD:0002818,Orphanet,79299,Exact +GARD:0002818,OMIM,602485,Exact +GARD:0002818,ICD-10,E16.1,NTBT +GARD:0002824,Orphanet,409,Exact +GARD:0002824,OMIM,144150,Exact +GARD:0002824,MedDRA,10071311,Exact +GARD:0002824,MeSH,C538377,Exact +GARD:0002824,UMLS,C0263420,Exact +GARD:0002824,SNOMED-CT,28488007,NA +GARD:0002826,Orphanet,2199,Exact +GARD:0002826,UMLS,C2931735,Exact +GARD:0002826,ICD-10,Q82.8,NTBT +GARD:0002826,SNOMED-CT,239071005,NA +GARD:0002826,UMLS,C1721006,Exact +GARD:0002826,OMIM,144200,Exact +GARD:0002826,UMLS,C0343110,Exact +GARD:0002828,Orphanet,2203,Exact +GARD:0002828,MeSH,D020167,Exact +GARD:0002828,UMLS,C0936256,Exact +GARD:0002828,UMLS,C0268553,Exact +GARD:0002828,OMIM,238710,BTNT +GARD:0002828,ICD-10,E72.3,NTBT +GARD:0002828,OMIM,238700,Exact +GARD:0002828,SNOMED-CT,58558003,NA +GARD:0002830,Orphanet,415,Exact +GARD:0002830,OMIM,238970,Exact +GARD:0002830,ICD-10,E72.4,NTBT +GARD:0002830,UMLS,C0268540,Exact +GARD:0002830,SNOMED-CT,30287008,NA +GARD:0002831,SNOMED-CT,9723006,NA +GARD:0002831,Orphanet,2801,Exact +GARD:0002831,UMLS,C0268414,Exact +GARD:0002831,ICD-10,M88.0,NTBT +GARD:0002831,ICD-11,FB85.0,Exact +GARD:0002831,OMIM,239000,Exact +GARD:0002831,ICD-10,M88.9,NTBT +GARD:0002831,ICD-10,M88.8,NTBT +GARD:0002833,SNOMED-CT,59763006,NA +GARD:0002833,Orphanet,3416,Exact +GARD:0002833,UMLS,C0432272,Exact +GARD:0002833,OMIM,607636,BTNT +GARD:0002833,ICD-10,M85.2,NTBT +GARD:0002833,OMIM,239100,Exact +GARD:0002835,Orphanet,93598,Exact +GARD:0002835,OMIM,259900,Exact +GARD:0002835,ICD-11,5C51.20,Exact +GARD:0002835,UMLS,C0268164,Exact +GARD:0002835,MeSH,C536414,Exact +GARD:0002835,ICD-10,E74.8,NTBT +GARD:0002835,SNOMED-CT,65520001,NA +GARD:0002836,SNOMED-CT,40951006,NA +GARD:0002836,Orphanet,93599,Exact +GARD:0002836,OMIM,260000,Exact +GARD:0002836,ICD-10,E74.8,NTBT +GARD:0002836,UMLS,C0268165,Exact +GARD:0002837,SNOMED-CT,237653008,NA +GARD:0002837,Orphanet,2207,Exact +GARD:0002837,ICD-10,E21.0,NTBT +GARD:0002838,Orphanet,417,Exact +GARD:0002838,ICD-10,E21.0,NTBT +GARD:0002838,OMIM,239200,Exact +GARD:0002838,UMLS,C1832615,Exact +GARD:0002838,OMIM,618188,BTNT +GARD:0002838,SNOMED-CT,715218009,NA +GARD:0002843,Orphanet,1578,Exact +GARD:0002843,UMLS,C1849700,Exact +GARD:0002843,OMIM,264070,Exact +GARD:0002843,ICD-10,E70.1,NTBT +GARD:0002844,Orphanet,2102,Exact +GARD:0002844,OMIM,233910,Exact +GARD:0002844,ICD-10,E70.1,NTBT +GARD:0002844,UMLS,C0268467,Exact +GARD:0002844,SNOMED-CT,23447005,NA +GARD:0002847,Orphanet,419,Exact +GARD:0002847,UMLS,C0268529,Exact +GARD:0002847,SNOMED-CT,61071003,NA +GARD:0002847,OMIM,239500,Exact +GARD:0002847,MedDRA,10058513,Exact +GARD:0002847,ICD-10,E72.5,NTBT +GARD:0002856,Orphanet,2216,Exact +GARD:0002856,ICD-10,Q86.8,NTBT +GARD:0002856,SNOMED-CT,765138001,NA +GARD:0002858,Orphanet,424,Exact +GARD:0002858,OMIM,609152,Exact +GARD:0002858,ICD-10,E05.8,NTBT +GARD:0002858,SNOMED-CT,716743006,NA +GARD:0002863,Orphanet,79495,Exact +GARD:0002863,ICD-10,Q84.2,NTBT +GARD:0002863,OMIM,307150,Exact +GARD:0002863,UMLS,C2931836,Exact +GARD:0002863,MeSH,C538388,Exact +GARD:0002864,SNOMED-CT,201160005,NA +GARD:0002864,Orphanet,2221,Exact +GARD:0002864,ICD-11,EL10,NTBT +GARD:0002864,ICD-10,L68.1,Exact +GARD:0002865,Orphanet,2222,Exact +GARD:0002865,UMLS,C0235864,Exact +GARD:0002865,OMIM,145700,BTNT +GARD:0002865,MeSH,C538389,Exact +GARD:0002865,ICD-10,Q84.2,NTBT +GARD:0002865,UMLS,C2936812,Exact +GARD:0002865,OMIM,145701,BTNT +GARD:0002865,OMIM,307150,BTNT +GARD:0002865,SNOMED-CT,403799003,NA +GARD:0002871,SNOMED-CT,721838005,NA +GARD:0002871,Orphanet,2224,Exact +GARD:0002871,MeSH,C538393,Exact +GARD:0002871,OMIM,600627,Exact +GARD:0002871,UMLS,C2931837,Exact +GARD:0002871,ICD-10,E70.8,NTBT +GARD:0002872,Orphanet,425,Exact +GARD:0002872,OMIM,618463,Exact +GARD:0002872,MeSH,D052456,Exact +GARD:0002872,UMLS,C0342898,Exact +GARD:0002872,SNOMED-CT,15346004,NA +GARD:0002872,OMIM,604091,Exact +GARD:0002872,ICD-10,E78.6,NTBT +GARD:0002872,MedDRA,10065133,Exact +GARD:0002872,UMLS,C1704429,Exact +GARD:0002876,OMIM,615558,Exact +GARD:0002876,ICD-10-CM,E78.6,NA +GARD:0002876,SNOMED-CT,60193003,NA +GARD:0002876,UMLS,C4551990,NA +GARD:0002876,DiseaseOntology,111062,NA +GARD:0002876,UMLS,C1862596,NA +GARD:0002876,UMLS,C4760580,NA +GARD:0002876,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-hypobetalipoproteinemia,NA +GARD:0002877,Orphanet,428,Exact +GARD:0002877,OMIM,615361,BTNT +GARD:0002877,ICD-10,E20.8,NTBT +GARD:0002877,OMIM,601198,Exact +GARD:0002878,Orphanet,101050,Exact +GARD:0002878,OMIM,600740,Exact +GARD:0002878,ICD-10,E83.5,NTBT +GARD:0002878,UMLS,C1833372,Exact +GARD:0002878,MeSH,C537147,Exact +GARD:0002882,SNOMED-CT,2391001,NA +GARD:0002882,Orphanet,932,Exact +GARD:0002882,OMIM,200610,BTNT +GARD:0002882,OMIM,200600,BTNT +GARD:0002882,UMLS,C0001079,Exact +GARD:0002882,ICD-10,Q77.0,Exact +GARD:0002882,MedDRA,10066122,Exact +GARD:0002882,OMIM,600972,BTNT +GARD:0002882,ICD-11,LD24.50,Exact +GARD:0002887,Orphanet,101041,Exact +GARD:0002887,OMIM,202400,NTBT +GARD:0002887,ICD-10,D68.2,NTBT +GARD:0002887,UMLS,C2584774,Exact +GARD:0002897,OMIM,146110,Exact +GARD:0002897,UMLS,C0342384,NA +GARD:0002897,SNOMED-CT,123953004,NA +GARD:0002897,GeneticAlliance,3650,NA +GARD:0002897,DiseaseOntology,90078,NA +GARD:0002897,UMLS,C3489396,NA +GARD:0002905,Orphanet,154,Exact +GARD:0002905,OMIM,609915,BTNT +GARD:0002905,OMIM,618189,BTNT +GARD:0002905,OMIM,611880,BTNT +GARD:0002905,OMIM,615184,BTNT +GARD:0002905,OMIM,609909,BTNT +GARD:0002905,OMIM,302045,BTNT +GARD:0002905,OMIM,613172,BTNT +GARD:0002905,OMIM,615235,BTNT +GARD:0002905,OMIM,606685,BTNT +GARD:0002905,OMIM,615916,BTNT +GARD:0002905,OMIM,611615,BTNT +GARD:0002905,OMIM,604765,BTNT +GARD:0002905,OMIM,611879,BTNT +GARD:0002905,OMIM,604145,BTNT +GARD:0002905,UMLS,C0340427,Exact +GARD:0002905,OMIM,615373,NTBT +GARD:0002905,OMIM,613122,BTNT +GARD:0002905,OMIM,612158,BTNT +GARD:0002905,OMIM,612877,BTNT +GARD:0002905,OMIM,613286,BTNT +GARD:0002905,ICD-10,I42.0,NTBT +GARD:0002905,OMIM,607482,BTNT +GARD:0002905,OMIM,115200,BTNT +GARD:0002905,OMIM,613642,BTNT +GARD:0002905,OMIM,600884,BTNT +GARD:0002905,OMIM,615396,NTBT +GARD:0002905,OMIM,611407,BTNT +GARD:0002905,OMIM,611878,BTNT +GARD:0002905,OMIM,613424,BTNT +GARD:0002905,OMIM,613881,BTNT +GARD:0002905,OMIM,608569,BTNT +GARD:0002905,OMIM,601154,BTNT +GARD:0002905,OMIM,613252,BTNT +GARD:0002905,OMIM,605582,BTNT +GARD:0002905,SNOMED-CT,52029003,NA +GARD:0002905,OMIM,604288,BTNT +GARD:0002905,OMIM,601493,BTNT +GARD:0002905,OMIM,615248,BTNT +GARD:0002905,OMIM,614672,BTNT +GARD:0002905,OMIM,613426,BTNT +GARD:0002905,OMIM,613694,BTNT +GARD:0002905,OMIM,613697,BTNT +GARD:0002905,OMIM,601494,BTNT +GARD:0002906,Orphanet,31043,Exact +GARD:0002906,SNOMED-CT,725033008,NA +GARD:0002906,ICD-10,E83.4,NTBT +GARD:0002906,OMIM,248250,Exact +GARD:0002907,Orphanet,1790,Exact +GARD:0002907,MeSH,C537154,Exact +GARD:0002907,OMIM,241310,Exact +GARD:0002907,ICD-10,Q75.4,NTBT +GARD:0002907,UMLS,C1855848,Exact +GARD:0002907,SNOMED-CT,721845005,NA +GARD:0002908,Orphanet,2491,Exact +GARD:0002908,ICD-10,Q87.8,NTBT +GARD:0002908,UMLS,C1840335,Exact +GARD:0002908,OMIM,146160,Exact +GARD:0002908,SNOMED-CT,716111003,NA +GARD:0002910,SNOMED-CT,725036000,NA +GARD:0002910,Orphanet,2238,Exact +GARD:0002910,MeSH,C537156,Exact +GARD:0002910,OMIM,146200,BTNT +GARD:0002910,ICD-10,E20.8,NTBT +GARD:0002910,OMIM,307700,BTNT +GARD:0002910,UMLS,C1832648,Exact +GARD:0002910,OMIM,601198,BTNT +GARD:0002910,OMIM,615361,BTNT +GARD:0002911,SNOMED-CT,724282009,NA +GARD:0002911,Orphanet,2237,Exact +GARD:0002911,UMLS,C1840333,Exact +GARD:0002911,OMIM,146255,Exact +GARD:0002911,ICD-10,Q87.8,NTBT +GARD:0002914,OMIM,307700,Exact +GARD:0002914,UMLS,C1321907,NA +GARD:0002914,DiseaseOntology,199,NA +GARD:0002914,DiseaseOntology,811,NA +GARD:0002914,SNOMED-CT,73291005,NA +GARD:0002914,DiseaseOntology,138,NA +GARD:0002914,UMLS,C0342344,NA +GARD:0002914,DiseaseOntology,11,NA +GARD:0002914,SNOMED-CT,237655001,NA +GARD:0002922,Orphanet,98723,Exact +GARD:0002922,SNOMED-CT,268180007,NA +GARD:0002922,MedDRA,10064962,Exact +GARD:0002922,ICD-10,Q22.6,Exact +GARD:0002922,UMLS,C0265856,Exact +GARD:0002922,UMLS,C0344963,Exact +GARD:0002922,MedDRA,10050053,Exact +GARD:0002926,Orphanet,325,Exact +GARD:0002926,OMIM,613679,Exact +GARD:0002926,ICD-10,D68.2,NTBT +GARD:0002926,UMLS,C0020640,Exact +GARD:0002926,UMLS,C0272317,Exact +GARD:0002926,UMLS,C3203356,Exact +GARD:0002926,SNOMED-CT,33297000,NA +GARD:0002928,Orphanet,2261,Exact +GARD:0002928,ICD-10,Q87.8,NTBT +GARD:0002928,OMIM,241760,Exact +GARD:0002928,SNOMED-CT,716096005,NA +GARD:0002930,Orphanet,2353,Exact +GARD:0002930,ICD-10,Q87.8,NTBT +GARD:0002930,OMIM,164220,Exact +GARD:0002930,UMLS,C1834038,Exact +GARD:0002930,SNOMED-CT,721902002,NA +GARD:0002943,Orphanet,206428,Exact +GARD:0002943,ICD-10,E79.8,NTBT +GARD:0002943,SNOMED-CT,124275001,NA +GARD:0002943,UMLS,C0023374,Exact +GARD:0002945,SNOMED-CT,234633000,NA +GARD:0002945,Orphanet,2268,Exact +GARD:0002945,OMIM,242860,BTNT +GARD:0002945,ICD-10,D84.8,NTBT +GARD:0002945,OMIM,616910,BTNT +GARD:0002945,OMIM,614069,BTNT +GARD:0002945,OMIM,616911,BTNT +GARD:0002946,OMIM,242150,Exact +GARD:0002946,SNOMED-CT,403780007,NA +GARD:0002946,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/keratitis-ichthyosis-deafness-syndrome,NA +GARD:0002946,UMLS,C1275089,NA +GARD:0002952,SNOMED-CT,403782004,NA +GARD:0002952,Orphanet,2273,Exact +GARD:0002952,OMIM,308205,BTNT +GARD:0002952,OMIM,619016,BTNT +GARD:0002952,MeSH,C536085,Exact +GARD:0002952,UMLS,C1839988,Exact +GARD:0002954,Orphanet,79503,Exact +GARD:0002954,OMIM,146590,Exact +GARD:0002954,MeSH,C536088,Exact +GARD:0002954,UMLS,C1840296,Exact +GARD:0002954,ICD-10,Q80.8,NTBT +GARD:0002954,UMLS,C0432307,Exact +GARD:0002954,SNOMED-CT,254170001,NA +GARD:0002960,SNOMED-CT,732950006,NA +GARD:0002960,Orphanet,2272,Exact +GARD:0002960,OMIM,258840,Exact +GARD:0002960,UMLS,C1850268,Exact +GARD:0002966,SNOMED-CT,254169002,NA +GARD:0002966,Orphanet,455,Exact +GARD:0002966,ICD-10,Q80.8,NTBT +GARD:0002966,OMIM,146800,Exact +GARD:0002966,UMLS,C0432306,Exact +GARD:0002966,MeSH,D053560,Exact +GARD:0002978,OMIM,601631,Exact +GARD:0002978,Orphanet,98634,NTBT +GARD:0002978,DiseaseOntology,080,NA +GARD:0002978,UMLS,C1839928,NA +GARD:0002978,UMLS,C1866560,NA +GARD:0002978,DiseaseOntology,860,NA +GARD:0002978,DiseaseOntology,507,NA +GARD:0002978,DiseaseOntology,608,NA +GARD:0002978,UMLS,C1866561,NA +GARD:0002978,GeneticAlliance,3868,NA +GARD:0002981,OMIM,242670,Exact +GARD:0002981,UMLS,C0340035,NA +GARD:0002981,SNOMED-CT,233664005,NA +GARD:0002982,OMIM,242680,Exact +GARD:0002982,SNOMED-CT,233665006,NA +GARD:0002982,UMLS,C0340036,NA +GARD:0002984,OMIM,146830,Exact +GARD:0002984,GeneticAlliance,3773,NA +GARD:0002984,UMLS,C1840266,NA +GARD:0002988,Orphanet,935,Exact +GARD:0002988,MeSH,C536020,Exact +GARD:0002988,UMLS,C2931087,Exact +GARD:0002988,ICD-10,D82.2,Exact +GARD:0002988,ICD-11,4A01.10,NTBT +GARD:0002988,UMLS,C1860168,Exact +GARD:0002988,SNOMED-CT,789777007,NA +GARD:0002988,OMIM,200900,Exact +GARD:0002989,SNOMED-CT,771185000,NA +GARD:0002989,Orphanet,2759,Exact +GARD:0002995,SNOMED-CT,724274009,NA +GARD:0002995,Orphanet,1943,Exact +GARD:0002995,ICD-10,G40.4,NTBT +GARD:0002998,Orphanet,2591,Exact +GARD:0002998,UMLS,C0432284,Exact +GARD:0002998,OMIM,615293,BTNT +GARD:0002998,ICD-10,D48.1,NTBT +GARD:0002998,OMIM,228550,Exact +GARD:0002998,SNOMED-CT,254146000,NA +GARD:0003002,SNOMED-CT,770438007,NA +GARD:0003002,Orphanet,3173,Exact +GARD:0003002,ICD-10,G40.4,NTBT +GARD:0003006,Orphanet,642,Exact +GARD:0003006,OMIM,256800,Exact +GARD:0003006,UMLS,C0020074,Exact +GARD:0003006,ICD-11,8C21.2,Exact +GARD:0003006,ICD-10,G60.8,NTBT +GARD:0003006,SNOMED-CT,62985007,NA +GARD:0003007,Orphanet,1052,Exact +GARD:0003007,OMIM,614114,BTNT +GARD:0003007,MeSH,C536987,Exact +GARD:0003007,OMIM,617598,BTNT +GARD:0003007,UMLS,C2931286,Exact +GARD:0003007,ICD-10,Q99.8,NTBT +GARD:0003007,SNOMED-CT,700056005,NA +GARD:0003007,UMLS,C1850343,Exact +GARD:0003007,OMIM,257300,Exact +GARD:0003008,SNOMED-CT,237651005,NA +GARD:0003008,Orphanet,2297,Exact +GARD:0003008,UMLS,C0342278,Exact +GARD:0003008,ICD-10,E13,NTBT +GARD:0003008,OMIM,610549,Exact +GARD:0003008,UMLS,C0342336,Exact +GARD:0003009,Orphanet,2298,Exact +GARD:0003009,ICD-10,E13,NTBT +GARD:0003009,UMLS,C0342337,Exact +GARD:0003009,SNOMED-CT,237652003,NA +GARD:0003010,Orphanet,97279,Exact +GARD:0003010,UMLS,C0021670,Exact +GARD:0003010,ICD-10,D37.7,BTNT +GARD:0003010,MedDRA,10022498,Exact +GARD:0003010,ICD-10,D13.7,BTNT +GARD:0003010,ICD-10,C25.4,BTNT +GARD:0003010,MeSH,D007340,Exact +GARD:0003012,Orphanet,981,Exact +GARD:0003012,ICD-10,Q28.1,NTBT +GARD:0003012,SNOMED-CT,722004001,NA +GARD:0003013,SNOMED-CT,95472001,NA +GARD:0003013,Orphanet,2300,Exact +GARD:0003013,UMLS,C0220744,Exact +GARD:0003013,ICD-10,Q43.8,NTBT +GARD:0003013,MedDRA,10028210,Exact +GARD:0003013,OMIM,243150,NTBT +GARD:0003017,OMIM,300048,Exact +GARD:0003017,UMLS,C2746068,NA +GARD:0003017,DiseaseOntology,80681,NA +GARD:0003017,GeneticAlliance,3850,NA +GARD:0003020,Orphanet,46724,Exact +GARD:0003020,UMLS,C0007772,Exact +GARD:0003020,OMIM,108010,Exact +GARD:0003020,ICD-10,Q28.2,NTBT +GARD:0003020,UMLS,C0917804,Exact +GARD:0003020,SNOMED-CT,234142008,NA +GARD:0003020,MeSH,D002538,Exact +GARD:0003020,ICD-11,8B22.40,Exact +GARD:0003024,Orphanet,332,Exact +GARD:0003024,UMLS,C1394891,Exact +GARD:0003024,ICD-10,D51.0,NTBT +GARD:0003024,OMIM,243320,BTNT +GARD:0003024,SNOMED-CT,234361004,NA +GARD:0003024,MedDRA,10070440,Exact +GARD:0003024,OMIM,261000,Exact +GARD:0003024,UMLS,C0340957,Exact +GARD:0003026,OMIM,137600,Exact +GARD:0003026,Orphanet,98634,NTBT +GARD:0003026,UMLS,C1842031,NA +GARD:0003026,DiseaseOntology,507,NA +GARD:0003026,GeneticAlliance,3869,NA +GARD:0003026,DiseaseOntology,860,NA +GARD:0003026,DiseaseOntology,080,NA +GARD:0003026,DiseaseOntology,609,NA +GARD:0003030,SNOMED-CT,720752007,NA +GARD:0003030,Orphanet,1509,Exact +GARD:0003030,UMLS,C1840061,Exact +GARD:0003030,UMLS,C1868581,Exact +GARD:0003030,ICD-10,Q74.1,NTBT +GARD:0003030,OMIM,147891,Exact +GARD:0003033,SNOMED-CT,371423007,NA +GARD:0003033,Orphanet,472,Exact +GARD:0003033,MedDRA,10023076,Exact +GARD:0003033,ICD-11,1A33,Exact +GARD:0003033,ICD-10,A07.3,Exact +GARD:0003033,MeSH,D021865,Exact +GARD:0003033,UMLS,C0311386,Exact +GARD:0003045,Orphanet,228349,Exact +GARD:0003045,UMLS,C1876161,Exact +GARD:0003045,ICD-10,E75.4,NTBT +GARD:0003045,OMIM,204500,Exact +GARD:0003047,Orphanet,93314,Exact +GARD:0003047,OMIM,184252,Exact +GARD:0003047,MeSH,C535797,Exact +GARD:0003047,ICD-10,Q77.8,NTBT +GARD:0003047,UMLS,C0265280,Exact +GARD:0003047,SNOMED-CT,111304003,NA +GARD:0003048,Orphanet,90647,Exact +GARD:0003048,MeSH,D029593,Exact +GARD:0003048,OMIM,612347,BTNT +GARD:0003048,ICD-10,I45.8,NTBT +GARD:0003048,SNOMED-CT,373905003,NA +GARD:0003048,MedDRA,10057936,Exact +GARD:0003048,UMLS,C0022387,Exact +GARD:0003048,OMIM,220400,Exact +GARD:0003049,Orphanet,474,Exact +GARD:0003049,OMIM,617088,BTNT +GARD:0003049,ICD-11,LD24.B1,Exact +GARD:0003049,OMIM,613819,BTNT +GARD:0003049,ICD-10,Q77.2,NTBT +GARD:0003049,OMIM,615630,BTNT +GARD:0003049,OMIM,616300,BTNT +GARD:0003049,OMIM,614376,BTNT +GARD:0003049,OMIM,613091,BTNT +GARD:0003049,UMLS,C0265275,Exact +GARD:0003049,OMIM,615633,BTNT +GARD:0003049,OMIM,611263,BTNT +GARD:0003049,OMIM,208500,BTNT +GARD:0003049,MedDRA,10057621,Exact +GARD:0003049,MeSH,C537571,Exact +GARD:0003049,SNOMED-CT,75049004,NA +GARD:0003051,Orphanet,1112,Exact +GARD:0003051,OMIM,207620,Exact +GARD:0003051,ICD-10,Q87.8,NTBT +GARD:0003051,UMLS,C1859754,Exact +GARD:0003051,SNOMED-CT,733118006,NA +GARD:0003051,MeSH,C535881,Exact +GARD:0003053,SNOMED-CT,726620005,NA +GARD:0003053,Orphanet,1485,Exact +GARD:0003053,OMIM,208158,Exact +GARD:0003053,UMLS,C1859710,Exact +GARD:0003054,Orphanet,2295,Exact +GARD:0003054,UMLS,C0268349,Exact +GARD:0003054,ICD-10,Q79.6,NTBT +GARD:0003054,OMIM,147900,Exact +GARD:0003054,SNOMED-CT,71322004,NA +GARD:0003056,SNOMED-CT,722449007,NA +GARD:0003056,Orphanet,2027,Exact +GARD:0003056,OMIM,135550,Exact +GARD:0003056,ICD-10,H90.3,NTBT +GARD:0003056,UMLS,C1851112,Exact +GARD:0003060,Orphanet,2319,Exact +GARD:0003060,MeSH,C537690,Exact +GARD:0003060,ICD-10,Q87.0,NTBT +GARD:0003060,UMLS,C0796099,Exact +GARD:0003060,OMIM,216100,Exact +GARD:0003060,SNOMED-CT,721874001,NA +GARD:0003062,Orphanet,2321,Exact +GARD:0003062,UMLS,C1832362,Exact +GARD:0003062,MeSH,C537694,Exact +GARD:0003062,OMIM,601427,Exact +GARD:0003062,ICD-10,Q87.8,NTBT +GARD:0003062,SNOMED-CT,403838000,NA +GARD:0003065,Orphanet,2929,Exact +GARD:0003065,OMIM,612242,NTBT +GARD:0003065,ICD-10,D12.6,NTBT +GARD:0003065,UMLS,C0345893,Exact +GARD:0003065,OMIM,175050,Exact +GARD:0003065,OMIM,174900,BTNT +GARD:0003065,SNOMED-CT,9273005,NA +GARD:0003066,SNOMED-CT,723364003,NA +GARD:0003066,Orphanet,1573,Exact +GARD:0003066,OMIM,601553,Exact +GARD:0003066,UMLS,C1832162,Exact +GARD:0003066,ICD-10,Q84.0,NTBT +GARD:0003068,Orphanet,26137,Exact +GARD:0003068,SNOMED-CT,722020006,NA +GARD:0003068,UMLS,C0751547,Exact +GARD:0003068,ICD-10,L95.8,NTBT +GARD:0003070,OMIM,147950,Exact +GARD:0003070,UMLS,C1563720,NA +GARD:0003070,DiseaseOntology,90083,NA +GARD:0003070,GeneticAlliance,3947,NA +GARD:0003071,OMIM,308700,Exact +GARD:0003071,Orphanet,478,NTBT +GARD:0003071,SNOMED-CT,93559003,NA +GARD:0003071,UMLS,C0162809,NA +GARD:0003071,GeneticAlliance,3949,NA +GARD:0003071,ICD-10-CM,E23.0,NA +GARD:0003071,DiseaseOntology,90094,NA +GARD:0003071,UMLS,C1563719,NA +GARD:0003073,OMIM,244200,Exact +GARD:0003073,GeneticAlliance,3948,NA +GARD:0003073,UMLS,C3550478,NA +GARD:0003073,DiseaseOntology,90092,NA +GARD:0003074,SNOMED-CT,719397009,NA +GARD:0003074,Orphanet,1836,Exact +GARD:0003074,OMIM,156232,Exact +GARD:0003074,MeSH,C535547,Exact +GARD:0003074,OMIM,613681,BTNT +GARD:0003074,ICD-10,Q78.8,NTBT +GARD:0003074,UMLS,C1835009,Exact +GARD:0003075,Orphanet,949,Exact +GARD:0003075,ICD-10,Q87.0,NTBT +GARD:0003075,OMIM,201050,Exact +GARD:0003075,UMLS,C1860145,Exact +GARD:0003075,SNOMED-CT,720418008,NA +GARD:0003077,Orphanet,2122,Exact +GARD:0003077,MeSH,C537007,Exact +GARD:0003077,SNOMED-CT,403983000,NA +GARD:0003077,ICD-10,C49.9,NTBT +GARD:0003077,UMLS,C1367420,Exact +GARD:0003078,SNOMED-CT,722031003,NA +GARD:0003078,Orphanet,2328,Exact +GARD:0003078,UMLS,C0796005,Exact +GARD:0003078,OMIM,244300,Exact +GARD:0003078,MeSH,C537008,Exact +GARD:0003078,ICD-10,Q87.8,NTBT +GARD:0003084,SNOMED-CT,722056009,NA +GARD:0003084,Orphanet,2707,Exact +GARD:0003084,ICD-10,Q87.0,NTBT +GARD:0003084,OMIM,244450,Exact +GARD:0003084,MeSH,C537013,Exact +GARD:0003084,UMLS,C1855663,Exact +GARD:0003086,Orphanet,991,Exact +GARD:0003086,OMIM,202660,Exact +GARD:0003086,ICD-10,Q87.8,NTBT +GARD:0003086,SNOMED-CT,722132007,NA +GARD:0003089,SNOMED-CT,715339004,NA +GARD:0003089,Orphanet,2334,Exact +GARD:0003089,MeSH,C537022,Exact +GARD:0003089,UMLS,C1835698,Exact +GARD:0003089,OMIM,148190,Exact +GARD:0003089,ICD-10,H16.8,NTBT +GARD:0003090,Orphanet,65748,Exact +GARD:0003090,OMIM,132800,Exact +GARD:0003090,UMLS,C0546476,Exact +GARD:0003090,ICD-10,D48.5,NTBT +GARD:0003092,Orphanet,494,Exact +GARD:0003092,ICD-10,Q82.8,NTBT +GARD:0003092,UMLS,C0265964,Exact +GARD:0003092,OMIM,124500,Exact +GARD:0003092,SNOMED-CT,24559001,NA +GARD:0003094,SNOMED-CT,722203001,NA +GARD:0003094,Orphanet,2202,Exact +GARD:0003094,UMLS,C1835672,Exact +GARD:0003094,ICD-10,Q82.8,NTBT +GARD:0003094,MeSH,C536152,Exact +GARD:0003094,OMIM,148350,Exact +GARD:0003095,SNOMED-CT,785725008,NA +GARD:0003095,Orphanet,2201,Exact +GARD:0003095,UMLS,C2931828,Exact +GARD:0003095,MeSH,C536153,Exact +GARD:0003095,OMIM,148360,NTBT +GARD:0003095,UMLS,C1835671,Exact +GARD:0003096,Orphanet,495,Exact +GARD:0003096,UMLS,C1851480,Exact +GARD:0003096,UMLS,C1851479,Exact +GARD:0003096,ICD-10,Q82.8,NTBT +GARD:0003096,OMIM,133200,NTBT +GARD:0003098,Orphanet,2200,Exact +GARD:0003098,UMLS,C1835650,Exact +GARD:0003098,OMIM,148730,Exact +GARD:0003098,ICD-10,Q82.8,NTBT +GARD:0003098,SNOMED-CT,764963007,NA +GARD:0003099,Orphanet,2339,Exact +GARD:0003099,OMIM,308830,Exact +GARD:0003099,UMLS,C1839910,Exact +GARD:0003099,ICD-10,Q87.1,NTBT +GARD:0003099,MeSH,C536158,Exact +GARD:0003099,SNOMED-CT,723830005,NA +GARD:0003100,Orphanet,678,Exact +GARD:0003100,OMIM,245000,Exact +GARD:0003100,MeSH,D010214,Exact +GARD:0003100,ICD-10,Q82.8,NTBT +GARD:0003100,UMLS,C0030360,Exact +GARD:0003100,SNOMED-CT,40158001,NA +GARD:0003102,Orphanet,2198,Exact +GARD:0003102,OMIM,148500,Exact +GARD:0003102,UMLS,C1835664,Exact +GARD:0003103,Orphanet,79501,Exact +GARD:0003103,OMIM,148600,BTNT +GARD:0003103,ICD-10,Q82.8,NTBT +GARD:0003103,OMIM,614936,BTNT +GARD:0003103,SNOMED-CT,717184007,NA +GARD:0003105,SNOMED-CT,4887000,NA +GARD:0003105,Orphanet,28378,Exact +GARD:0003105,OMIM,276600,Exact +GARD:0003105,MedDRA,10069463,Exact +GARD:0003105,ICD-10,E70.2,NTBT +GARD:0003105,UMLS,C0268487,Exact +GARD:0003109,Orphanet,499,Exact +GARD:0003109,ICD-11,1F28.4,Exact +GARD:0003109,MeSH,C536165,Exact +GARD:0003109,UMLS,C0276742,Exact +GARD:0003109,ICD-10,B35.0,NTBT +GARD:0003109,SNOMED-CT,19087001,NA +GARD:0003112,Orphanet,98841,Exact +GARD:0003112,MeSH,D017728,Exact +GARD:0003112,ICD-10,C84.6,BTNT +GARD:0003112,UMLS,C0206180,Exact +GARD:0003112,ICD-10,C84.7,BTNT +GARD:0003112,SNOMED-CT,277637000,NA +GARD:0003113,Orphanet,477,Exact +GARD:0003113,ICD-10,Q80.8,NTBT +GARD:0003113,UMLS,C0265336,Exact +GARD:0003113,OMIM,242150,BTNT +GARD:0003113,MedDRA,10048786,Exact +GARD:0003113,UMLS,C3665333,Exact +GARD:0003113,OMIM,602540,BTNT +GARD:0003113,OMIM,148210,Exact +GARD:0003113,SNOMED-CT,239059004,NA +GARD:0003117,Orphanet,33543,Exact +GARD:0003117,MedDRA,10053712,Exact +GARD:0003117,UMLS,C0206085,Exact +GARD:0003117,ICD-11,7A22,Exact +GARD:0003117,MeSH,D017593,Exact +GARD:0003117,ICD-10,G47.8,NTBT +GARD:0003117,OMIM,148840,Exact +GARD:0003117,SNOMED-CT,111488004,NA +GARD:0003118,Orphanet,2110,Exact +GARD:0003118,ICD-10,Q74.2,NTBT +GARD:0003118,OMIM,234280,Exact +GARD:0003118,UMLS,C1856197,Exact +GARD:0003118,SNOMED-CT,771180005,NA +GARD:0003122,Orphanet,2346,Exact +GARD:0003122,OMIM,608354,BTNT +GARD:0003122,ICD-11,LD26.60,Exact +GARD:0003122,UMLS,C2931360,Exact +GARD:0003122,OMIM,149000,Exact +GARD:0003122,UMLS,C0022739,Exact +GARD:0003122,ICD-10,Q87.2,NTBT +GARD:0003122,OMIM,608355,BTNT +GARD:0003122,SNOMED-CT,723991007,NA +GARD:0003124,SNOMED-CT,93132001,NA +GARD:0003124,Orphanet,2347,Exact +GARD:0003124,MeSH,C537208,Exact +GARD:0003124,OMIM,245190,Exact +GARD:0003124,ICD-10,Q77.8,NTBT +GARD:0003124,UMLS,C1855605,Exact +GARD:0003125,SNOMED-CT,1271009,NA +GARD:0003125,Orphanet,2698,Exact +GARD:0003125,ICD-10,Q82.8,NTBT +GARD:0003125,UMLS,C0266004,Exact +GARD:0003125,OMIM,149200,Exact +GARD:0003126,Orphanet,2348,Exact +GARD:0003126,SNOMED-CT,715439000,NA +GARD:0003126,UMLS,C1720860,Exact +GARD:0003126,OMIM,151660,Exact +GARD:0003126,ICD-10,E88.1,NTBT +GARD:0003128,Orphanet,1946,Exact +GARD:0003128,UMLS,C0406740,Exact +GARD:0003128,ICD-10,G40.8,NTBT +GARD:0003128,SNOMED-CT,109478007,NA +GARD:0003128,OMIM,226750,Exact +GARD:0003129,Orphanet,3197,Exact +GARD:0003129,OMIM,614618,BTNT +GARD:0003129,OMIM,614619,BTNT +GARD:0003129,UMLS,C1835614,Exact +GARD:0003129,OMIM,618011,BTNT +GARD:0003129,ICD-10,G25.8,NTBT +GARD:0003129,OMIM,149400,Exact +GARD:0003129,SNOMED-CT,724351008,NA +GARD:0003141,SNOMED-CT,763742008,NA +GARD:0003141,Orphanet,3082,Exact +GARD:0003141,ICD-10,Q87.2,NTBT +GARD:0003141,UMLS,C2931547,Exact +GARD:0003150,Orphanet,1149,Exact +GARD:0003150,OMIM,259450,NTBT +GARD:0003150,OMIM,208200,Exact +GARD:0003150,ICD-10,Q87.2,NTBT +GARD:0003150,UMLS,C1859709,Exact +GARD:0003150,SNOMED-CT,702447002,NA +GARD:0003159,Orphanet,2364,Exact +GARD:0003159,ICD-10,E74.4,NTBT +GARD:0003159,OMIM,612933,BTNT +GARD:0003159,OMIM,614128,BTNT +GARD:0003160,Orphanet,284426,Exact +GARD:0003160,UMLS,C2931743,Exact +GARD:0003160,ICD-10,E74.0,NTBT +GARD:0003160,OMIM,612933,Exact +GARD:0003161,Orphanet,284435,Exact +GARD:0003161,UMLS,C3279904,Exact +GARD:0003161,OMIM,614128,Exact +GARD:0003161,ICD-10,E74.0,NTBT +GARD:0003163,SNOMED-CT,715338007,NA +GARD:0003163,Orphanet,17,Exact +GARD:0003163,ICD-10,E71.1,NTBT +GARD:0003163,OMIM,245400,Exact +GARD:0003169,Orphanet,1296,Exact +GARD:0003169,ICD-10,Q87.8,NTBT +GARD:0003169,MeSH,C538396,Exact +GARD:0003169,UMLS,C1855551,Exact +GARD:0003169,OMIM,245550,Exact +GARD:0003169,SNOMED-CT,732961003,NA +GARD:0003170,OMIM,242300,Exact +GARD:0003170,Orphanet,313,NTBT +GARD:0003170,DiseaseOntology,60656,NA +GARD:0003170,UMLS,C4551630,NA +GARD:0003170,ICD-10-CM,Q80.9,NA +GARD:0003170,UMLS,C1855789,NA +GARD:0003170,ICD-10-CM,Q80,NA +GARD:0003170,UMLS,C0020758,NA +GARD:0003170,SNOMED-CT,718632004,NA +GARD:0003170,UMLS,C3536797,NA +GARD:0003170,SNOMED-CT,13059002,NA +GARD:0003170,GeneticAlliance,1846,NA +GARD:0003170,UMLS,C3543867,NA +GARD:0003178,Orphanet,544,Exact +GARD:0003178,MeSH,D016403,Exact +GARD:0003178,ICD-10,C83.3,Exact +GARD:0003178,ICD-11,2A81,Exact +GARD:0003178,MedDRA,10012818,Exact +GARD:0003178,UMLS,C0079744,Exact +GARD:0003178,SNOMED-CT,109969005,NA +GARD:0003181,Orphanet,2371,Exact +GARD:0003181,MeSH,C537872,Exact +GARD:0003181,OMIM,245650,Exact +GARD:0003181,UMLS,C1855535,Exact +GARD:0003181,ICD-10,Q74.8,NTBT +GARD:0003181,SNOMED-CT,719409004,NA +GARD:0003188,Orphanet,2004,Exact +GARD:0003188,ICD-11,LA72,Exact +GARD:0003188,ICD-10,Q32.1,NTBT +GARD:0003188,OMIM,215800,BTNT +GARD:0003191,Orphanet,2372,Exact +GARD:0003191,MedDRA,10023885,Exact +GARD:0003191,ICD-10,Q31.3,Exact +GARD:0003191,UMLS,C0265761,Exact +GARD:0003191,ICD-11,LA71.1,Exact +GARD:0003191,SNOMED-CT,51523009,NA +GARD:0003194,SNOMED-CT,64981002,NA +GARD:0003194,Orphanet,1202,Exact +GARD:0003194,ICD-10,Q31.8,NTBT +GARD:0003194,UMLS,C0265756,Exact +GARD:0003194,UMLS,C1835555,Exact +GARD:0003194,OMIM,150300,Exact +GARD:0003195,SNOMED-CT,718215008,NA +GARD:0003195,Orphanet,505,Exact +GARD:0003195,ICD-10,L66.1,NTBT +GARD:0003196,OMIM,180020,Exact +GARD:0003196,Orphanet,1871,NTBT +GARD:0003196,UMLS,C1867326,NA +GARD:0003196,GeneticAlliance,6238,NA +GARD:0003196,DiseaseOntology,81024,NA +GARD:0003203,Orphanet,2379,Exact +GARD:0003203,UMLS,C0796195,Exact +GARD:0003203,OMIM,311510,Exact +GARD:0003203,ICD-11,LD90.1,Exact +GARD:0003203,ICD-10,G20,NTBT +GARD:0003203,SNOMED-CT,716107009,NA +GARD:0003212,Orphanet,1297,Exact +GARD:0003212,ICD-10,Q18.8,NTBT +GARD:0003212,UMLS,C0376524,Exact +GARD:0003212,OMIM,113620,Exact +GARD:0003212,SNOMED-CT,449821007,NA +GARD:0003223,Orphanet,2658,Exact +GARD:0003223,MeSH,C537115,Exact +GARD:0003223,UMLS,C0432269,Exact +GARD:0003223,OMIM,151050,Exact +GARD:0003223,ICD-10,Q87.1,NTBT +GARD:0003223,SNOMED-CT,1393001,NA +GARD:0003224,Orphanet,240,Exact +GARD:0003224,MeSH,C537119,Exact +GARD:0003224,UMLS,C0265309,Exact +GARD:0003224,ICD-10,Q77.8,NTBT +GARD:0003224,OMIM,127300,Exact +GARD:0003224,SNOMED-CT,17818006,NA +GARD:0003227,Orphanet,1486,Exact +GARD:0003227,OMIM,253310,Exact +GARD:0003227,UMLS,C1854664,Exact +GARD:0003227,MeSH,C537194,Exact +GARD:0003227,ICD-10,Q68.8,NTBT +GARD:0003227,SNOMED-CT,715418007,NA +GARD:0003228,Orphanet,511,Exact +GARD:0003228,OMIM,248600,Exact +GARD:0003228,MeSH,D008375,Exact +GARD:0003228,SNOMED-CT,27718001,NA +GARD:0003228,UMLS,C0268576,Exact +GARD:0003228,ICD-10,E71.0,Exact +GARD:0003228,ICD-11,5C50.D0,Exact +GARD:0003228,UMLS,C0024776,Exact +GARD:0003228,MedDRA,10026817,Exact +GARD:0003228,OMIM,615135,BTNT +GARD:0003230,Orphanet,512,Exact +GARD:0003230,UMLS,C2713319,Exact +GARD:0003230,OMIM,250100,Exact +GARD:0003230,MeSH,C538597,Exact +GARD:0003230,ICD-11,5C56.02,Exact +GARD:0003230,MedDRA,10067609,Exact +GARD:0003230,OMIM,156310,BTNT +GARD:0003230,ICD-10,E75.2,NTBT +GARD:0003230,MeSH,D007966,Exact +GARD:0003230,UMLS,C0023522,Exact +GARD:0003230,OMIM,249900,BTNT +GARD:0003230,SNOMED-CT,396338004,NA +GARD:0003231,Orphanet,99852,Exact +GARD:0003231,ICD-10,E75.2,NTBT +GARD:0003231,SNOMED-CT,715794009,NA +GARD:0003232,Orphanet,2386,Exact +GARD:0003232,SNOMED-CT,771184001,NA +GARD:0003236,Orphanet,2743,Exact +GARD:0003236,OMIM,165150,Exact +GARD:0003236,UMLS,C1833835,Exact +GARD:0003236,SNOMED-CT,782945001,NA +GARD:0003242,Orphanet,1300,Exact +GARD:0003242,ICD-10,Q87.2,NTBT +GARD:0003242,OMIM,119500,Exact +GARD:0003242,SNOMED-CT,718222000,NA +GARD:0003244,Orphanet,755,Exact +GARD:0003244,MedDRA,10024406,Exact +GARD:0003244,OMIM,238320,BTNT +GARD:0003244,ICD-10,Q56.1,NTBT +GARD:0003244,UMLS,C0860158,Exact +GARD:0003244,SNOMED-CT,56212008,NA +GARD:0003247,Orphanet,525,Exact +GARD:0003247,ICD-10,L66.1,Exact +GARD:0003247,MeSH,C535892,Exact +GARD:0003247,ICD-11,EA91.2,NTBT +GARD:0003247,UMLS,C0023645,Exact +GARD:0003247,SNOMED-CT,64540004,NA +GARD:0003248,Orphanet,2390,Exact +GARD:0003248,ICD-10,D70,NTBT +GARD:0003248,OMIM,246550,Exact +GARD:0003248,UMLS,C1855502,Exact +GARD:0003248,SNOMED-CT,763668009,NA +GARD:0003251,SNOMED-CT,716106000,NA +GARD:0003251,Orphanet,2369,Exact +GARD:0003251,ICD-10,Q87.8,NTBT +GARD:0003252,SNOMED-CT,722429003,NA +GARD:0003252,Orphanet,1307,Exact +GARD:0003252,OMIM,246560,Exact +GARD:0003252,ICD-10,Q92.3,NTBT +GARD:0003259,Orphanet,2611,Exact +GARD:0003259,ICD-10,Q82.5,NTBT +GARD:0003262,Orphanet,165,Exact +GARD:0003262,ICD-11,5C52.2,Exact +GARD:0003262,UMLS,C0268238,Exact +GARD:0003262,MeSH,C536560,Exact +GARD:0003262,ICD-10,E75.5,NTBT +GARD:0003263,Orphanet,2394,Exact +GARD:0003263,OMIM,246900,Exact +GARD:0003263,ICD-10,E74.4,NTBT +GARD:0003263,SNOMED-CT,29914000,NA +GARD:0003268,Orphanet,530,Exact +GARD:0003268,UMLS,C0023795,Exact +GARD:0003268,ICD-10,E78.8,NTBT +GARD:0003268,OMIM,247100,Exact +GARD:0003268,SNOMED-CT,38692000,NA +GARD:0003277,SNOMED-CT,253149002,NA +GARD:0003277,Orphanet,51577,Exact +GARD:0003277,UMLS,C0431376,Exact +GARD:0003277,ICD-10,Q04.3,NTBT +GARD:0003283,SNOMED-CT,44250009,NA +GARD:0003283,Orphanet,2404,Exact +GARD:0003283,UMLS,C0023968,Exact +GARD:0003283,MeSH,D008118,Exact +GARD:0003283,MedDRA,10024797,Exact +GARD:0003283,ICD-11,1F66.0,Exact +GARD:0003283,ICD-10,B74.3,Exact +GARD:0003284,SNOMED-CT,20852007,NA +GARD:0003284,Orphanet,101016,Exact +GARD:0003284,OMIM,612955,BTNT +GARD:0003284,OMIM,600919,BTNT +GARD:0003284,OMIM,616247,BTNT +GARD:0003284,OMIM,613688,BTNT +GARD:0003284,MeSH,D029597,Exact +GARD:0003284,OMIM,611820,BTNT +GARD:0003284,ICD-10,I45.8,NTBT +GARD:0003284,OMIM,611819,BTNT +GARD:0003284,OMIM,192500,Exact +GARD:0003284,OMIM,613485,BTNT +GARD:0003284,MedDRA,10039211,Exact +GARD:0003284,OMIM,603830,BTNT +GARD:0003284,OMIM,613695,BTNT +GARD:0003284,OMIM,616249,BTNT +GARD:0003284,OMIM,611818,BTNT +GARD:0003284,UMLS,C0035828,Exact +GARD:0003284,OMIM,613693,BTNT +GARD:0003285,OMIM,613688,Exact +GARD:0003285,DiseaseOntology,110645,NA +GARD:0003285,UMLS,C3277700,NA +GARD:0003285,UMLS,C3276240,NA +GARD:0003285,UMLS,C3279092,NA +GARD:0003285,UMLS,C3279093,NA +GARD:0003285,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/romano-ward-syndrome,NA +GARD:0003285,GeneticAlliance,4300,NA +GARD:0003285,UMLS,C3150943,NA +GARD:0003286,OMIM,603830,Exact +GARD:0003286,DiseaseOntology,110646,NA +GARD:0003286,GeneticAlliance,4301,NA +GARD:0003286,UMLS,C3276241,NA +GARD:0003286,UMLS,C3276240,NA +GARD:0003286,UMLS,C1859062,NA +GARD:0003287,Orphanet,168,Exact +GARD:0003287,MeSH,D058247,Exact +GARD:0003287,UMLS,C0406468,Exact +GARD:0003287,OMIM,600628,Exact +GARD:0003287,ICD-10,L65.1,NTBT +GARD:0003287,SNOMED-CT,238735005,NA +GARD:0003295,Orphanet,534,Exact +GARD:0003295,UMLS,C0028860,Exact +GARD:0003295,ICD-10,E72.0,NTBT +GARD:0003295,OMIM,309000,Exact +GARD:0003295,MedDRA,10051707,Exact +GARD:0003295,MeSH,D009800,Exact +GARD:0003295,ICD-11,5C60.0,Exact +GARD:0003295,SNOMED-CT,79385002,NA +GARD:0003300,Orphanet,2409,Exact +GARD:0003300,UMLS,C0796020,Exact +GARD:0003300,OMIM,600252,Exact +GARD:0003300,ICD-10,Q87.8,NTBT +GARD:0003300,MeSH,C537037,Exact +GARD:0003300,SNOMED-CT,721974000,NA +GARD:0003303,SNOMED-CT,720401009,NA +GARD:0003303,Orphanet,2575,Exact +GARD:0003303,OMIM,219721,Exact +GARD:0003303,UMLS,C2931402,Exact +GARD:0003307,Orphanet,776,Exact +GARD:0003307,OMIM,309520,Exact +GARD:0003307,ICD-10,Q87.8,NTBT +GARD:0003307,OMIM,300799,BTNT +GARD:0003307,SNOMED-CT,422437002,NA +GARD:0003307,OMIM,300676,ND (not yet decided/unable to decide) +GARD:0003307,UMLS,C0796022,Exact +GARD:0003314,Orphanet,1173,Exact +GARD:0003314,OMIM,212840,Exact +GARD:0003314,UMLS,C1859305,Exact +GARD:0003314,ICD-10,G11.8,NTBT +GARD:0003314,OMIM,605672,BTNT +GARD:0003318,SNOMED-CT,234146006,NA +GARD:0003318,Orphanet,2136,Exact +GARD:0003318,UMLS,C0340834,Exact +GARD:0003318,OMIM,235510,BTNT +GARD:0003318,OMIM,618154,BTNT +GARD:0003318,OMIM,616006,BTNT +GARD:0003318,ICD-10,Q87.8,NTBT +GARD:0003319,SNOMED-CT,277844007,NA +GARD:0003319,Orphanet,538,Exact +GARD:0003319,UMLS,C0751674,Exact +GARD:0003319,MeSH,D018192,Exact +GARD:0003319,MedDRA,10049459,Exact +GARD:0003319,ICD-10,D48.7,NTBT +GARD:0003319,OMIM,606690,Exact +GARD:0003321,SNOMED-CT,240820001,NA +GARD:0003321,Orphanet,2035,Exact +GARD:0003321,ICD-10,B74.2,BTNT +GARD:0003321,MedDRA,10016675,Exact +GARD:0003321,ICD-10,B74.0,BTNT +GARD:0003321,UMLS,C0013884,Exact +GARD:0003321,ICD-10,B74.1,BTNT +GARD:0003324,SNOMED-CT,400040008,NA +GARD:0003324,Orphanet,90186,Exact +GARD:0003324,MeSH,D008538,Exact +GARD:0003324,MedDRA,10027138,Exact +GARD:0003324,UMLS,C0238261,Exact +GARD:0003324,UMLS,C0025183,Exact +GARD:0003324,UMLS,C1704424,Exact +GARD:0003324,ICD-10,Q82.0,NTBT +GARD:0003324,UMLS,C1704425,Exact +GARD:0003324,OMIM,153200,Exact +GARD:0003328,OMIM,153100,Exact +GARD:0003328,DiseaseOntology,70210,NA +GARD:0003328,GeneticAlliance,5256,NA +GARD:0003328,UMLS,C1704423,NA +GARD:0003328,SNOMED-CT,254199006,NA +GARD:0003328,ICD-10-CM,Q82.0,NA +GARD:0003328,SNOMED-CT,399889006,NA +GARD:0003328,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/milroy-disease,NA +GARD:0003335,SNOMED-CT,303852004,NA +GARD:0003335,Orphanet,470,Exact +GARD:0003335,ICD-10,E72.0,NTBT +GARD:0003335,MedDRA,10058300,Exact +GARD:0003335,UMLS,C0268647,Exact +GARD:0003335,OMIM,222700,Exact +GARD:0003342,Orphanet,156207,Exact +GARD:0003342,MeSH,D008260,Exact +GARD:0003342,MeSH,C531735,Exact +GARD:0003342,ICD-10,Q38.2,Exact +GARD:0003342,UMLS,C0009677,Exact +GARD:0003342,MedDRA,10025391,Exact +GARD:0003342,UMLS,C0024421,Exact +GARD:0003342,ICD-11,DA03.5,Exact +GARD:0003343,Orphanet,116,Exact +GARD:0003343,MedDRA,10050344,Exact +GARD:0003343,UMLS,C0004903,Exact +GARD:0003343,MeSH,D001506,Exact +GARD:0003343,OMIM,130650,Exact +GARD:0003343,ICD-10,Q87.3,NTBT +GARD:0003343,SNOMED-CT,81780002,NA +GARD:0003347,SNOMED-CT,733469003,NA +GARD:0003347,Orphanet,2435,Exact +GARD:0003347,UMLS,C1835172,Exact +GARD:0003348,SNOMED-CT,412787009,NA +GARD:0003348,Orphanet,2728,Exact +GARD:0003348,UMLS,C0796094,Exact +GARD:0003348,UMLS,C2931643,Exact +GARD:0003348,ICD-10,Q87.8,NTBT +GARD:0003348,OMIM,249620,Exact +GARD:0003350,Orphanet,34528,Exact +GARD:0003350,ICD-10,E83.4,NTBT +GARD:0003350,OMIM,154020,Exact +GARD:0003350,UMLS,C1835171,Exact +GARD:0003350,SNOMED-CT,725393000,NA +GARD:0003361,Orphanet,2215,Exact +GARD:0003361,ICD-10,G71.8,NTBT +GARD:0003361,OMIM,217150,Exact +GARD:0003361,UMLS,C1857576,Exact +GARD:0003361,SNOMED-CT,719398004,NA +GARD:0003363,OMIM,145600,Exact +GARD:0003363,Orphanet,423,NTBT +GARD:0003363,SNOMED-CT,213026003,NA +GARD:0003363,UMLS,C0024591,NA +GARD:0003363,ICD-10-CM,T88.3,NA +GARD:0003363,GeneticAlliance,4424,NA +GARD:0003363,DiseaseOntology,80990,NA +GARD:0003363,UMLS,C2930980,NA +GARD:0003363,SNOMED-CT,405501007,NA +GARD:0003364,OMIM,154275,Exact +GARD:0003364,Orphanet,423,NTBT +GARD:0003364,GeneticAlliance,4427,NA +GARD:0003364,UMLS,C2930981,NA +GARD:0003365,OMIM,154276,Exact +GARD:0003365,Orphanet,423,NTBT +GARD:0003365,GeneticAlliance,4428,NA +GARD:0003365,UMLS,C2930982,NA +GARD:0003366,OMIM,600467,Exact +GARD:0003366,Orphanet,423,NTBT +GARD:0003366,GeneticAlliance,4429,NA +GARD:0003366,UMLS,C1838102,NA +GARD:0003367,OMIM,601887,Exact +GARD:0003367,Orphanet,423,NTBT +GARD:0003367,UMLS,C1866077,NA +GARD:0003367,GeneticAlliance,4430,NA +GARD:0003368,OMIM,601888,Exact +GARD:0003368,Orphanet,423,NTBT +GARD:0003368,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/malignant-hyperthermia,NA +GARD:0003368,UMLS,C1866076,NA +GARD:0003368,GeneticAlliance,4431,NA +GARD:0003371,Orphanet,943,Exact +GARD:0003371,ICD-10,E72.8,NTBT +GARD:0003371,OMIM,248360,Exact +GARD:0003371,UMLS,C0342793,Exact +GARD:0003371,MeSH,C535702,Exact +GARD:0003371,SNOMED-CT,361203007,NA +GARD:0003373,SNOMED-CT,719451006,NA +GARD:0003373,Orphanet,2229,Exact +GARD:0003373,UMLS,C0796031,Exact +GARD:0003373,ICD-10,I42.0,NTBT +GARD:0003373,OMIM,212112,Exact +GARD:0003373,UMLS,C0796083,Exact +GARD:0003374,Orphanet,90153,Exact +GARD:0003374,OMIM,248370,Exact +GARD:0003374,ICD-10,Q87.5,NTBT +GARD:0003374,MeSH,C535705,Exact +GARD:0003378,Orphanet,1120,Exact +GARD:0003378,OMIM,601612,Exact +GARD:0003378,ICD-10,Q87.8,NTBT +GARD:0003378,SNOMED-CT,721976003,NA +GARD:0003382,SNOMED-CT,719845008,NA +GARD:0003382,Orphanet,2460,Exact +GARD:0003382,OMIM,600920,Exact +GARD:0003382,ICD-10,Q87.0,NTBT +GARD:0003382,UMLS,C1833136,Exact +GARD:0003388,Orphanet,2463,Exact +GARD:0003388,ICD-10,Q87.8,NTBT +GARD:0003388,UMLS,C1855347,Exact +GARD:0003388,OMIM,248770,Exact +GARD:0003388,UMLS,C0268364,Exact +GARD:0003388,SNOMED-CT,733062000,NA +GARD:0003390,Orphanet,444,Exact +GARD:0003390,MeSH,C535912,Exact +GARD:0003390,UMLS,C2931059,Exact +GARD:0003390,OMIM,146550,BTNT +GARD:0003390,OMIM,612841,BTNT +GARD:0003390,ICD-10,Q84.0,NTBT +GARD:0003390,SNOMED-CT,254234005,NA +GARD:0003395,Orphanet,2717,Exact +GARD:0003395,ICD-10,Q87.8,NTBT +GARD:0003395,UMLS,C1855425,Exact +GARD:0003395,OMIM,248450,Exact +GARD:0003396,SNOMED-CT,722109008,NA +GARD:0003396,Orphanet,2763,Exact +GARD:0003396,OMIM,602361,Exact +GARD:0003396,UMLS,C1865639,Exact +GARD:0003396,ICD-10,Q78.0,NTBT +GARD:0003399,Orphanet,1423,Exact +GARD:0003399,ICD-10,Q78.8,NTBT +GARD:0003399,SNOMED-CT,719404009,NA +GARD:0003401,SNOMED-CT,732262003,NA +GARD:0003401,Orphanet,2464,Exact +GARD:0003401,OMIM,223330,Exact +GARD:0003401,UMLS,C1857227,Exact +GARD:0003406,SNOMED-CT,722380003,NA +GARD:0003406,Orphanet,1387,Exact +GARD:0003406,ICD-10,Q87.8,NTBT +GARD:0003406,OMIM,212720,Exact +GARD:0003406,UMLS,C0796037,Exact +GARD:0003409,SNOMED-CT,722453009,NA +GARD:0003409,Orphanet,2135,Exact +GARD:0003409,OMIM,248910,Exact +GARD:0003409,ICD-10,Q82.2,NTBT +GARD:0003413,Orphanet,2209,Exact +GARD:0003413,ICD-10,E70.1,NTBT +GARD:0003413,UMLS,C0085547,Exact +GARD:0003413,ICD-11,5C50.02,Exact +GARD:0003413,OMIM,261600,NTBT +GARD:0003413,SNOMED-CT,297225000,NA +GARD:0003418,OMIM,125850,Exact +GARD:0003418,Orphanet,552,NTBT +GARD:0003418,UMLS,C1852093,NA +GARD:0003418,SNOMED-CT,609562003,NA +GARD:0003418,DiseaseOntology,111099,NA +GARD:0003424,SNOMED-CT,715441004,NA +GARD:0003424,Orphanet,2471,Exact +GARD:0003424,UMLS,C0796038,Exact +GARD:0003424,OMIM,248950,Exact +GARD:0003424,ICD-10,Q87.8,NTBT +GARD:0003424,MeSH,C538158,Exact +GARD:0003426,SNOMED-CT,725030006,NA +GARD:0003426,Orphanet,168624,Exact +GARD:0003426,OMIM,609579,Exact +GARD:0003426,ICD-10,Q87.0,NTBT +GARD:0003426,UMLS,C1865070,Exact +GARD:0003427,SNOMED-CT,702407009,NA +GARD:0003427,Orphanet,2473,Exact +GARD:0003427,OMIM,236700,Exact +GARD:0003427,MeSH,C538159,Exact +GARD:0003427,ICD-10,Q87.8,NTBT +GARD:0003427,MedDRA,10052312,Exact +GARD:0003427,UMLS,C0948368,Exact +GARD:0003430,SNOMED-CT,719456001,NA +GARD:0003430,Orphanet,2001,Exact +GARD:0003430,OMIM,601165,Exact +GARD:0003430,ICD-10,Q87.8,NTBT +GARD:0003430,UMLS,C2931750,Exact +GARD:0003432,Orphanet,3097,Exact +GARD:0003432,UMLS,C1837026,Exact +GARD:0003432,ICD-10,Q87.8,NTBT +GARD:0003432,OMIM,608978,Exact +GARD:0003432,UMLS,C2931752,Exact +GARD:0003432,SNOMED-CT,722461004,NA +GARD:0003436,Orphanet,564,Exact +GARD:0003436,OMIM,609345,BTNT +GARD:0003436,OMIM,611561,BTNT +GARD:0003436,ICD-11,LD2F.13,Exact +GARD:0003436,OMIM,249000,Exact +GARD:0003436,OMIM,607361,BTNT +GARD:0003436,ICD-10,Q61.9,NTBT +GARD:0003436,OMIM,617562,BTNT +GARD:0003436,UMLS,C0265215,Exact +GARD:0003436,OMIM,603194,BTNT +GARD:0003436,OMIM,614209,BTNT +GARD:0003436,OMIM,612284,BTNT +GARD:0003436,OMIM,615397,BTNT +GARD:0003436,OMIM,611134,BTNT +GARD:0003436,SNOMED-CT,29076005,NA +GARD:0003436,OMIM,613885,BTNT +GARD:0003438,Orphanet,2476,Exact +GARD:0003438,ICD-10,Q00.0,BTNT +GARD:0003439,SNOMED-CT,722201004,NA +GARD:0003439,Orphanet,1993,Exact +GARD:0003439,UMLS,C1835087,Exact +GARD:0003439,OMIM,155145,Exact +GARD:0003439,ICD-10,Q87.8,NTBT +GARD:0003440,Orphanet,2699,Exact +GARD:0003440,ICD-10,Q18.8,NTBT +GARD:0003440,OMIM,151630,Exact +GARD:0003440,SNOMED-CT,722034006,NA +GARD:0003442,Orphanet,2241,Exact +GARD:0003442,UMLS,C1608393,Exact +GARD:0003442,OMIM,619351,BTNT +GARD:0003442,OMIM,249210,BTNT +GARD:0003442,ICD-10,Q43.8,NTBT +GARD:0003442,SNOMED-CT,253781004,NA +GARD:0003443,Orphanet,2604,Exact +GARD:0003443,ICD-10,K56.0,NTBT +GARD:0003443,UMLS,C1835084,Exact +GARD:0003443,OMIM,619350,BTNT +GARD:0003443,OMIM,155310,NTBT +GARD:0003443,UMLS,C0266833,Exact +GARD:0003443,SNOMED-CT,63684002,NA +GARD:0003445,Orphanet,2478,Exact +GARD:0003445,OMIM,613925,BTNT +GARD:0003445,OMIM,613926,BTNT +GARD:0003445,SNOMED-CT,703536004,NA +GARD:0003445,UMLS,C1858854,Exact +GARD:0003445,OMIM,604004,Exact +GARD:0003445,ICD-10,E75.2,NTBT +GARD:0003448,SNOMED-CT,733522005,NA +GARD:0003448,Orphanet,2479,Exact +GARD:0003448,OMIM,249310,Exact +GARD:0003448,UMLS,C0796086,Exact +GARD:0003448,ICD-10,Q87.8,NTBT +GARD:0003449,Orphanet,3038,Exact +GARD:0003449,ICD-10,Q87.0,NTBT +GARD:0003449,UMLS,C2931119,Exact +GARD:0003449,OMIM,182875,Exact +GARD:0003449,SNOMED-CT,716199000,NA +GARD:0003451,Orphanet,2196,Exact +GARD:0003451,OMIM,248190,Exact +GARD:0003451,UMLS,C1855466,Exact +GARD:0003451,UMLS,C2931121,Exact +GARD:0003451,ICD-10,E83.4,NTBT +GARD:0003451,SNOMED-CT,717787005,NA +GARD:0003460,SNOMED-CT,726019003,NA +GARD:0003460,Orphanet,618,Exact +GARD:0003460,UMLS,C2314896,Exact +GARD:0003460,OMIM,155700,BTNT +GARD:0003460,OMIM,155601,BTNT +GARD:0003460,OMIM,615134,BTNT +GARD:0003460,ICD-10,C43.7,BTNT +GARD:0003460,ICD-10,C43.1,BTNT +GARD:0003460,OMIM,608035,BTNT +GARD:0003460,ICD-10,C43.5,BTNT +GARD:0003460,OMIM,613972,BTNT +GARD:0003460,OMIM,609048,BTNT +GARD:0003460,OMIM,155600,NTBT +GARD:0003460,OMIM,613099,BTNT +GARD:0003460,ICD-10,C43.8,BTNT +GARD:0003460,ICD-10,C43.3,BTNT +GARD:0003460,ICD-10,C43.4,BTNT +GARD:0003460,ICD-10,C43.2,BTNT +GARD:0003460,OMIM,615848,BTNT +GARD:0003460,ICD-10,C43.6,BTNT +GARD:0003460,ICD-10,C43.0,BTNT +GARD:0003462,Orphanet,2482,Exact +GARD:0003462,UMLS,C2931453,Exact +GARD:0003462,ICD-10,Q76.4,NTBT +GARD:0003462,MeSH,C537238,Exact +GARD:0003462,SNOMED-CT,732263008,NA +GARD:0003475,SNOMED-CT,414667000,NA +GARD:0003475,Orphanet,93969,Exact +GARD:0003475,ICD-10,Q05.5,NTBT +GARD:0003475,ICD-10,Q05.2,NTBT +GARD:0003475,UMLS,C0025312,Exact +GARD:0003475,ICD-10,Q05.7,NTBT +GARD:0003475,ICD-10,Q05.1,NTBT +GARD:0003475,ICD-10,Q05.8,NTBT +GARD:0003475,ICD-10,Q05.4,NTBT +GARD:0003475,ICD-10,Q05.3,NTBT +GARD:0003475,ICD-10,Q05.6,NTBT +GARD:0003475,ICD-10,Q05.9,NTBT +GARD:0003475,ICD-10,Q05.0,NTBT +GARD:0003480,Orphanet,66625,Exact +GARD:0003480,ICD-10,Q87.0,NTBT +GARD:0003480,OMIM,605627,Exact +GARD:0003480,UMLS,C1854108,Exact +GARD:0003480,SNOMED-CT,720855003,NA +GARD:0003482,Orphanet,1236,Exact +GARD:0003482,SNOMED-CT,783005002,NA +GARD:0003482,ICD-10,Q87.8,NTBT +GARD:0003485,SNOMED-CT,725906006,NA +GARD:0003485,Orphanet,3079,Exact +GARD:0003485,ICD-10,Q87.8,NTBT +GARD:0003485,OMIM,249630,Exact +GARD:0003485,UMLS,C0796080,Exact +GARD:0003491,Orphanet,2139,Exact +GARD:0003491,ICD-10,Q87.8,NTBT +GARD:0003491,UMLS,C2931736,Exact +GARD:0003491,SNOMED-CT,721146009,NA +GARD:0003491,MeSH,C538112,Exact +GARD:0003505,Orphanet,404473,Exact +GARD:0003505,ICD-10,G80.1,BTNT +GARD:0003505,OMIM,615075,Exact +GARD:0003505,SNOMED-CT,782723007,NA +GARD:0003506,SNOMED-CT,702356009,NA +GARD:0003506,Orphanet,3077,Exact +GARD:0003506,ICD-10,F71.1,NTBT +GARD:0003506,UMLS,C3713418,Exact +GARD:0003506,OMIM,300055,Exact +GARD:0003514,Orphanet,3074,Exact +GARD:0003514,SNOMED-CT,771077007,NA +GARD:0003514,ICD-10,Q87.8,NTBT +GARD:0003519,Orphanet,1240,Exact +GARD:0003519,OMIM,250215,Exact +GARD:0003519,ICD-10,Q78.5,NTBT +GARD:0003519,MeSH,C537350,Exact +GARD:0003519,UMLS,C1855243,Exact +GARD:0003520,Orphanet,1436,Exact +GARD:0003520,ICD-10,Q87.5,NTBT +GARD:0003520,OMIM,309620,Exact +GARD:0003520,SNOMED-CT,722478008,NA +GARD:0003521,OMIM,309580,Exact +GARD:0003521,GeneticAlliance,4666,NA +GARD:0003521,UMLS,C4759781,NA +GARD:0003523,Orphanet,1891,Exact +GARD:0003523,OMIM,246555,Exact +GARD:0003523,UMLS,C0796001,Exact +GARD:0003523,SNOMED-CT,763743003,NA +GARD:0003524,Orphanet,2557,Exact +GARD:0003524,ICD-10,Q87.8,NTBT +GARD:0003524,UMLS,C0265249,Exact +GARD:0003524,OMIM,249600,Exact +GARD:0003524,SNOMED-CT,40291001,NA +GARD:0003530,Orphanet,3080,Exact +GARD:0003530,ICD-10,Q87.0,NTBT +GARD:0003530,OMIM,277990,Exact +GARD:0003530,UMLS,C1848439,Exact +GARD:0003530,SNOMED-CT,763745005,NA +GARD:0003531,Orphanet,3057,Exact +GARD:0003531,OMIM,300615,Exact +GARD:0003531,UMLS,C0796275,Exact +GARD:0003531,ICD-10,E70.8,NTBT +GARD:0003531,SNOMED-CT,718210003,NA +GARD:0003537,Orphanet,1193,Exact +GARD:0003537,UMLS,C0796206,Exact +GARD:0003537,ICD-10,Q87.8,NTBT +GARD:0003537,OMIM,300431,Exact +GARD:0003537,SNOMED-CT,718577005,NA +GARD:0003552,Orphanet,2631,Exact +GARD:0003552,UMLS,C2930871,Exact +GARD:0003552,ICD-10,Q78.8,NTBT +GARD:0003552,OMIM,249710,Exact +GARD:0003552,SNOMED-CT,715471007,NA +GARD:0003553,SNOMED-CT,38494008,NA +GARD:0003553,Orphanet,2632,Exact +GARD:0003553,OMIM,249700,Exact +GARD:0003553,ICD-10,Q87.1,NTBT +GARD:0003553,UMLS,C0432230,Exact +GARD:0003553,MeSH,C537267,Exact +GARD:0003554,SNOMED-CT,33979003,NA +GARD:0003554,Orphanet,2633,Exact +GARD:0003554,ICD-10,Q78.8,NTBT +GARD:0003554,UMLS,C0432231,Exact +GARD:0003554,OMIM,163400,Exact +GARD:0003555,SNOMED-CT,715472000,NA +GARD:0003555,Orphanet,2634,Exact +GARD:0003555,ICD-10,Q78.8,NTBT +GARD:0003555,UMLS,C1860616,Exact +GARD:0003555,OMIM,191400,Exact +GARD:0003555,MeSH,C537349,Exact +GARD:0003559,SNOMED-CT,715442006,NA +GARD:0003559,Orphanet,2498,Exact +GARD:0003559,UMLS,C1839728,Exact +GARD:0003559,ICD-10,Q70.0,NTBT +GARD:0003559,OMIM,309630,Exact +GARD:0003560,SNOMED-CT,205481009,NA +GARD:0003560,Orphanet,2499,Exact +GARD:0003560,ICD-10,Q78.4,NTBT +GARD:0003560,OMIM,156250,Exact +GARD:0003560,UMLS,C0410530,Exact +GARD:0003562,Orphanet,1040,Exact +GARD:0003562,OMIM,613073,BTNT +GARD:0003562,MeSH,C537351,Exact +GARD:0003562,OMIM,602111,NTBT +GARD:0003562,ICD-10,Q78.5,NTBT +GARD:0003562,UMLS,C0432226,Exact +GARD:0003562,SNOMED-CT,254085009,NA +GARD:0003563,Orphanet,2501,Exact +GARD:0003563,OMIM,250400,Exact +GARD:0003563,MeSH,C537353,Exact +GARD:0003563,SNOMED-CT,254084008,NA +GARD:0003563,ICD-10,Q78.5,NTBT +GARD:0003563,UMLS,C0432225,Exact +GARD:0003566,Orphanet,2502,Exact +GARD:0003566,ICD-10,Q78.5,NTBT +GARD:0003566,OMIM,250420,Exact +GARD:0003566,UMLS,C1855175,Exact +GARD:0003566,SNOMED-CT,733419006,NA +GARD:0003568,Orphanet,2504,Exact +GARD:0003568,OMIM,156510,Exact +GARD:0003568,ICD-10,Q77.8,NTBT +GARD:0003568,SNOMED-CT,724145007,NA +GARD:0003571,Orphanet,2635,Exact +GARD:0003571,ICD-10,Q77.8,NTBT +GARD:0003571,MeSH,C537356,Exact +GARD:0003571,UMLS,C0265281,Exact +GARD:0003571,OMIM,156530,Exact +GARD:0003571,SNOMED-CT,22764001,NA +GARD:0003573,SNOMED-CT,724144006,NA +GARD:0003573,Orphanet,1923,Exact +GARD:0003573,ICD-10,Q86.8,NTBT +GARD:0003575,Orphanet,1917,Exact +GARD:0003575,ICD-10,T56.1,NTBT +GARD:0003575,UMLS,C0265376,Exact +GARD:0003575,UMLS,C0086626,Exact +GARD:0003575,SNOMED-CT,62110005,NA +GARD:0003576,Orphanet,2169,Exact +GARD:0003576,OMIM,236270,Exact +GARD:0003576,ICD-10,E72.1,NTBT +GARD:0003576,UMLS,C1856057,Exact +GARD:0003577,Orphanet,2170,Exact +GARD:0003577,ICD-10,E72.1,NTBT +GARD:0003577,UMLS,C1855128,Exact +GARD:0003577,OMIM,250940,Exact +GARD:0003579,Orphanet,26,Exact +GARD:0003579,OMIM,614857,BTNT +GARD:0003579,OMIM,277400,BTNT +GARD:0003579,UMLS,C1848561,Exact +GARD:0003579,OMIM,277380,BTNT +GARD:0003579,SNOMED-CT,80887004,NA +GARD:0003579,OMIM,277410,BTNT +GARD:0003579,MeSH,C537359,Exact +GARD:0003579,ICD-10,E71.1,NTBT +GARD:0003582,Orphanet,79283,Exact +GARD:0003582,ICD-10,E72.1,NTBT +GARD:0003582,UMLS,C1848552,Exact +GARD:0003582,OMIM,277410,Exact +GARD:0003584,Orphanet,79284,Exact +GARD:0003584,ICD-10,E72.1,NTBT +GARD:0003584,OMIM,277380,Exact +GARD:0003584,UMLS,C1848578,Exact +GARD:0003586,Orphanet,27,Exact +GARD:0003586,OMIM,251000,Exact +GARD:0003586,ICD-10,E71.1,NTBT +GARD:0003586,SNOMED-CT,124680001,NA +GARD:0003586,UMLS,C1855114,Exact +GARD:0003588,Orphanet,29,Exact +GARD:0003588,UMLS,C1959626,Exact +GARD:0003588,ICD-10,E88.8,NTBT +GARD:0003588,MedDRA,10072219,Exact +GARD:0003588,SNOMED-CT,718558008,NA +GARD:0003588,OMIM,610377,Exact +GARD:0003588,MeSH,D054078,Exact +GARD:0003588,UMLS,C0342731,Exact +GARD:0003589,SNOMED-CT,239142006,NA +GARD:0003589,Orphanet,2505,Exact +GARD:0003589,OMIM,156610,Exact +GARD:0003589,MeSH,C537575,Exact +GARD:0003589,UMLS,C0473586,Exact +GARD:0003589,ICD-10,Q82.8,NTBT +GARD:0003589,OMIM,616734,BTNT +GARD:0003596,SNOMED-CT,723403008,NA +GARD:0003596,Orphanet,2511,Exact +GARD:0003596,ICD-10,Q87.8,NTBT +GARD:0003596,OMIM,268850,Exact +GARD:0003602,Orphanet,2643,Exact +GARD:0003602,UMLS,C1855089,Exact +GARD:0003602,OMIM,251190,Exact +GARD:0003602,MeSH,C537321,Exact +GARD:0003602,ICD-10,Q87.1,NTBT +GARD:0003602,SNOMED-CT,715482004,NA +GARD:0003603,Orphanet,199642,Exact +GARD:0003603,MedDRA,10027534,Exact +GARD:0003603,UMLS,C0025958,Exact +GARD:0003603,ICD-10,Q02,NTBT +GARD:0003604,SNOMED-CT,719377004,NA +GARD:0003604,Orphanet,2513,Exact +GARD:0003604,MeSH,C537322,Exact +GARD:0003604,OMIM,203340,Exact +GARD:0003604,ICD-10,Q87.8,NTBT +GARD:0003604,UMLS,C1859910,Exact +GARD:0003605,Orphanet,2514,Exact +GARD:0003605,OMIM,619180,BTNT +GARD:0003605,OMIM,156580,Exact +GARD:0003605,OMIM,616311,BTNT +GARD:0003605,OMIM,619179,BTNT +GARD:0003605,OMIM,617520,BTNT +GARD:0003605,UMLS,C0220693,Exact +GARD:0003605,ICD-10,Q02,NTBT +GARD:0003605,MeSH,C537323,Exact +GARD:0003605,SNOMED-CT,778070003,NA +GARD:0003607,SNOMED-CT,770655004,NA +GARD:0003607,Orphanet,2523,Exact +GARD:0003607,ICD-10,G98,NTBT +GARD:0003609,Orphanet,2515,Exact +GARD:0003609,OMIM,251220,Exact +GARD:0003609,MeSH,C537324,Exact +GARD:0003609,SNOMED-CT,719380003,NA +GARD:0003609,UMLS,C0796061,Exact +GARD:0003609,MeSH,C536711,Exact +GARD:0003609,ICD-10,Q87.8,NTBT +GARD:0003609,UMLS,C1855080,Exact +GARD:0003610,Orphanet,2522,Exact +GARD:0003610,OMIM,251250,Exact +GARD:0003610,MeSH,C537325,Exact +GARD:0003610,ICD-10,Q87.8,NTBT +GARD:0003610,UMLS,C0796066,Exact +GARD:0003610,SNOMED-CT,715462003,NA +GARD:0003615,Orphanet,2172,Exact +GARD:0003615,UMLS,C1855348,Exact +GARD:0003615,ICD-10,Q87.8,NTBT +GARD:0003615,OMIM,248760,Exact +GARD:0003615,SNOMED-CT,733472005,NA +GARD:0003617,SNOMED-CT,733092009,NA +GARD:0003617,Orphanet,2558,Exact +GARD:0003617,ICD-10,E22.8,NTBT +GARD:0003622,SNOMED-CT,733604003,NA +GARD:0003622,Orphanet,2526,Exact +GARD:0003622,ICD-10,Q87.8,NTBT +GARD:0003622,UMLS,C3501946,Exact +GARD:0003622,UMLS,C1835265,Exact +GARD:0003622,MeSH,C537711,Exact +GARD:0003622,OMIM,152950,Exact +GARD:0003627,Orphanet,2528,Exact +GARD:0003627,UMLS,C0796151,Exact +GARD:0003627,UMLS,C2931524,Exact +GARD:0003627,MeSH,C537536,Exact +GARD:0003627,ICD-10,Q87.8,NTBT +GARD:0003627,MeSH,C537539,Exact +GARD:0003627,SNOMED-CT,715464002,NA +GARD:0003635,Orphanet,566,Exact +GARD:0003635,OMIM,156600,Exact +GARD:0003635,UMLS,C1303009,Exact +GARD:0003635,MeSH,C537550,Exact +GARD:0003635,ICD-10,Q13.8,NTBT +GARD:0003637,SNOMED-CT,716166002,NA +GARD:0003637,Orphanet,2536,Exact +GARD:0003637,UMLS,C1834935,Exact +GARD:0003637,ICD-10,Q15.8,NTBT +GARD:0003637,MeSH,C537552,Exact +GARD:0003637,OMIM,156700,Exact +GARD:0003640,Orphanet,2538,Exact +GARD:0003640,ICD-10,Q87.8,NTBT +GARD:0003640,UMLS,C1834929,Exact +GARD:0003640,OMIM,156810,Exact +GARD:0003640,MeSH,C537554,Exact +GARD:0003640,SNOMED-CT,721880009,NA +GARD:0003643,Orphanet,93328,Exact +GARD:0003643,OMIM,164745,Exact +GARD:0003643,ICD-10,Q78.8,NTBT +GARD:0003643,UMLS,C2750355,Exact +GARD:0003643,SNOMED-CT,725165009,NA +GARD:0003644,Orphanet,98938,Exact +GARD:0003644,OMIM,251505,BTNT +GARD:0003644,OMIM,605738,BTNT +GARD:0003644,OMIM,615145,BTNT +GARD:0003644,SNOMED-CT,715771008,NA +GARD:0003644,OMIM,614497,BTNT +GARD:0003644,OMIM,601186,NTBT +GARD:0003644,OMIM,610092,BTNT +GARD:0003644,OMIM,616428,BTNT +GARD:0003644,OMIM,611638,BTNT +GARD:0003644,UMLS,C2931501,Exact +GARD:0003644,ICD-10,Q11.2,NTBT +GARD:0003644,OMIM,300345,Exact +GARD:0003644,OMIM,613703,BTNT +GARD:0003645,Orphanet,139471,Exact +GARD:0003645,UMLS,C1864689,Exact +GARD:0003645,ICD-10,Q11.2,NTBT +GARD:0003645,OMIM,607932,Exact +GARD:0003645,SNOMED-CT,721878003,NA +GARD:0003650,Orphanet,2547,Exact +GARD:0003650,UMLS,C2931224,Exact +GARD:0003652,Orphanet,727,Exact +GARD:0003652,ICD-10,M31.7,Exact +GARD:0003652,ICD-11,4A44.A0,Exact +GARD:0003652,MedDRA,10063344,Exact +GARD:0003652,MeSH,D055953,Exact +GARD:0003652,UMLS,C0343192,Exact +GARD:0003652,SNOMED-CT,1144805008,NA +GARD:0003653,SNOMED-CT,726722009,NA +GARD:0003653,Orphanet,2549,Exact +GARD:0003653,ICD-10,Q75.8,NTBT +GARD:0003653,UMLS,C0220681,Exact +GARD:0003653,OMIM,141400,Exact +GARD:0003653,UMLS,C0265240,Exact +GARD:0003655,SNOMED-CT,699676006,NA +GARD:0003655,Orphanet,2552,Exact +GARD:0003655,ICD-11,1F58,Exact +GARD:0003655,ICD-10,B60.8,NTBT +GARD:0003655,UMLS,C0085407,Exact +GARD:0003655,MedDRA,10053982,Exact +GARD:0003655,MeSH,D016881,Exact +GARD:0003659,Orphanet,2556,Exact +GARD:0003659,OMIM,300952,BTNT +GARD:0003659,OMIM,300887,BTNT +GARD:0003659,ICD-10,Q11.2,NTBT +GARD:0003659,UMLS,C0796070,Exact +GARD:0003659,OMIM,309801,Exact +GARD:0003659,SNOMED-CT,721879006,NA +GARD:0003668,Orphanet,98919,Exact +GARD:0003668,MeSH,D019846,Exact +GARD:0003668,ICD-10,G61.0,NTBT +GARD:0003668,UMLS,C0393799,Exact +GARD:0003668,MedDRA,10049567,Exact +GARD:0003668,SNOMED-CT,1767005,NA +GARD:0003669,Orphanet,531,Exact +GARD:0003669,MedDRA,10068361,Exact +GARD:0003669,OMIM,247200,Exact +GARD:0003669,MeSH,D054221,Exact +GARD:0003669,UMLS,C0265219,Exact +GARD:0003669,ICD-10,Q04.3,NTBT +GARD:0003669,SNOMED-CT,253148005,NA +GARD:0003671,SNOMED-CT,717052002,NA +GARD:0003671,Orphanet,255210,Exact +GARD:0003671,ICD-10,E88.8,NTBT +GARD:0003671,UMLS,C2931092,Exact +GARD:0003671,OMIM,256000,NTBT +GARD:0003672,Orphanet,90031,Exact +GARD:0003672,SNOMED-CT,191177007,NA +GARD:0003672,ICD-10,D55.2,NTBT +GARD:0003672,OMIM,235700,Exact +GARD:0003681,Orphanet,1933,Exact +GARD:0003681,OMIM,612073,Exact +GARD:0003681,ICD-10,G71.3,NTBT +GARD:0003682,Orphanet,2597,Exact +GARD:0003682,MeSH,C537476,Exact +GARD:0003682,UMLS,C1855033,Exact +GARD:0003682,OMIM,251950,NTBT +GARD:0003682,ICD-10,G71.3,NTBT +GARD:0003682,SNOMED-CT,732951005,NA +GARD:0003684,Orphanet,746,Exact +GARD:0003684,ICD-10,G71.3,NTBT +GARD:0003684,UMLS,C1969443,Exact +GARD:0003684,MeSH,D024741,Exact +GARD:0003684,UMLS,C0342786,Exact +GARD:0003684,OMIM,609015,Exact +GARD:0003684,SNOMED-CT,237999008,NA +GARD:0003685,Orphanet,1205,Exact +GARD:0003685,ICD-11,LA89.2,Exact +GARD:0003685,ICD-10,Q23.2,NTBT +GARD:0003685,UMLS,C0344760,Exact +GARD:0003685,SNOMED-CT,23063005,NA +GARD:0003687,Orphanet,741,Exact +GARD:0003687,SNOMED-CT,233858000,NA +GARD:0003687,UMLS,C0340364,Exact +GARD:0003687,OMIM,157700,Exact +GARD:0003687,ICD-10,I34.1,NTBT +GARD:0003687,OMIM,607829,BTNT +GARD:0003687,OMIM,610840,BTNT +GARD:0003688,OMIM,157700,Exact +GARD:0003688,SNOMED-CT,233858000,NA +GARD:0003688,UMLS,C1834819,NA +GARD:0003688,DiseaseOntology,988,NA +GARD:0003688,GeneticAlliance,4838,NA +GARD:0003688,UMLS,C0340364,NA +GARD:0003690,Orphanet,1879,Exact +GARD:0003690,ICD-10,M85.8,NTBT +GARD:0003690,UMLS,C2931505,Exact +GARD:0003690,UMLS,C3149695,Exact +GARD:0003692,SNOMED-CT,718761007,NA +GARD:0003692,Orphanet,178364,Exact +GARD:0003692,UMLS,C1864690,Exact +GARD:0003692,ICD-10,Q11.2,NTBT +GARD:0003692,OMIM,610125,Exact +GARD:0003693,Orphanet,3434,Exact +GARD:0003693,OMIM,601349,Exact +GARD:0003693,UMLS,C1832440,Exact +GARD:0003693,ICD-10,Q87.8,NTBT +GARD:0003693,SNOMED-CT,715533002,NA +GARD:0003697,SNOMED-CT,609561005,NA +GARD:0003697,Orphanet,552,Exact +GARD:0003697,OMIM,610508,BTNT +GARD:0003697,OMIM,616511,BTNT +GARD:0003697,OMIM,606394,BTNT +GARD:0003697,OMIM,616329,BTNT +GARD:0003697,OMIM,125850,BTNT +GARD:0003697,OMIM,606391,BTNT +GARD:0003697,OMIM,600496,BTNT +GARD:0003697,OMIM,613375,BTNT +GARD:0003697,OMIM,613370,BTNT +GARD:0003697,OMIM,612225,BTNT +GARD:0003697,OMIM,609812,BTNT +GARD:0003697,UMLS,C0342276,Exact +GARD:0003697,ICD-10,E13,NTBT +GARD:0003697,OMIM,606392,BTNT +GARD:0003697,OMIM,125851,BTNT +GARD:0003698,Orphanet,2560,Exact +GARD:0003698,ICD-10,E23.0,NTBT +GARD:0003698,UMLS,C2931024,Exact +GARD:0003698,SNOMED-CT,724174003,NA +GARD:0003699,Orphanet,2059,Exact +GARD:0003699,UMLS,C0220730,Exact +GARD:0003699,SNOMED-CT,702432006,NA +GARD:0003699,MeSH,C538070,Exact +GARD:0003699,OMIM,229850,Exact +GARD:0003699,ICD-10,Q87.8,NTBT +GARD:0003701,Orphanet,2751,Exact +GARD:0003701,UMLS,C0026363,Exact +GARD:0003701,ICD-10,Q87.0,NTBT +GARD:0003701,OMIM,252100,Exact +GARD:0003701,MeSH,C538585,Exact +GARD:0003701,UMLS,C2931889,Exact +GARD:0003701,SNOMED-CT,1779005,NA +GARD:0003704,SNOMED-CT,720850008,NA +GARD:0003704,Orphanet,1433,Exact +GARD:0003704,UMLS,C2931026,Exact +GARD:0003704,ICD-10,Q82.8,NTBT +GARD:0003705,Orphanet,99732,Exact +GARD:0003705,ICD-10,E72.1,NTBT +GARD:0003705,OMIM,252150,BTNT +GARD:0003705,OMIM,615501,BTNT +GARD:0003705,OMIM,252160,BTNT +GARD:0003707,SNOMED-CT,770945001,NA +GARD:0003707,Orphanet,2564,Exact +GARD:0003707,UMLS,C1861233,Exact +GARD:0003707,OMIM,187510,Exact +GARD:0003707,ICD-10,Q73.8,NTBT +GARD:0003711,SNOMED-CT,718687003,NA +GARD:0003711,Orphanet,96148,Exact +GARD:0003711,UMLS,C2674937,Exact +GARD:0003711,OMIM,609625,Exact +GARD:0003711,ICD-10,Q93.5,NTBT +GARD:0003738,SNOMED-CT,716515000,NA +GARD:0003738,Orphanet,250999,Exact +GARD:0003738,ICD-10,Q93.5,NTBT +GARD:0003738,OMIM,612530,Exact +GARD:0003746,Orphanet,1617,Exact +GARD:0003746,MeSH,C538316,Exact +GARD:0003746,ICD-10,Q93.5,NTBT +GARD:0003746,UMLS,C2931816,Exact +GARD:0003746,SNOMED-CT,719658006,NA +GARD:0003750,Orphanet,1620,Exact +GARD:0003750,ICD-10,Q87.8,NTBT +GARD:0003750,OMIM,613792,Exact +GARD:0003750,SNOMED-CT,763528002,NA +GARD:0003764,SNOMED-CT,719663005,NA +GARD:0003764,Orphanet,251056,Exact +GARD:0003764,ICD-10,Q93.5,NTBT +GARD:0003764,OMIM,612863,Exact +GARD:0003765,Orphanet,495930,Exact +GARD:0003765,ICD-10,D46.7,NTBT +GARD:0003765,OMIM,619041,BTNT +GARD:0003765,OMIM,252270,BTNT +GARD:0003769,Orphanet,251071,Exact +GARD:0003769,SNOMED-CT,716381003,NA +GARD:0003769,ICD-10,Q93.5,NTBT +GARD:0003773,SNOMED-CT,771072001,NA +GARD:0003773,Orphanet,261112,Exact +GARD:0003773,UMLS,C0795830,Exact +GARD:0003773,ICD-10,Q93.5,NTBT +GARD:0003773,OMIM,158170,Exact +GARD:0003773,UMLS,C0265425,Exact +GARD:0003785,SNOMED-CT,7259005,NA +GARD:0003785,Orphanet,309297,Exact +GARD:0003785,OMIM,253000,Exact +GARD:0003785,UMLS,C3179194,Exact +GARD:0003785,UMLS,C0086651,Exact +GARD:0003785,ICD-10,E76.2,NTBT +GARD:0003786,Orphanet,309310,Exact +GARD:0003786,ICD-10,E76.2,NTBT +GARD:0003786,OMIM,253010,Exact +GARD:0003786,UMLS,C0086652,Exact +GARD:0003786,SNOMED-CT,238044004,NA +GARD:0003787,Orphanet,97282,Exact +GARD:0003787,UMLS,C0011993,Exact +GARD:0003787,MedDRA,10047430,Exact +GARD:0003787,UMLS,C0086768,Exact +GARD:0003787,ICD-10,E16.8,NTBT +GARD:0003787,MeSH,D003969,Exact +GARD:0003787,SNOMED-CT,253005002,NA +GARD:0003788,Orphanet,2570,Exact +GARD:0003788,OMIM,306990,Exact +GARD:0003788,ICD-10,Q04.2,NTBT +GARD:0003788,UMLS,C1844016,Exact +GARD:0003788,SNOMED-CT,716169009,NA +GARD:0003791,Orphanet,2400,Exact +GARD:0003791,ICD-10,G60.8,NTBT +GARD:0003791,MeSH,C536988,Exact +GARD:0003791,UMLS,C1854961,Exact +GARD:0003791,OMIM,252320,Exact +GARD:0003793,SNOMED-CT,57451009,NA +GARD:0003793,Orphanet,3347,Exact +GARD:0003793,UMLS,C2713583,Exact +GARD:0003793,ICD-10,J98.0,NTBT +GARD:0003793,UMLS,C0040587,Exact +GARD:0003793,MedDRA,10044316,Exact +GARD:0003793,MeSH,D014137,Exact +GARD:0003793,OMIM,275300,Exact +GARD:0003795,Orphanet,2572,Exact +GARD:0003795,UMLS,C1849085,Exact +GARD:0003795,ICD-10,G11.8,NTBT +GARD:0003795,OMIM,271320,Exact +GARD:0003795,SNOMED-CT,715465001,NA +GARD:0003806,Orphanet,577,Exact +GARD:0003806,SNOMED-CT,65764006,NA +GARD:0003806,ICD-10,E77.0,NTBT +GARD:0003806,UMLS,C0033788,Exact +GARD:0003806,OMIM,252600,BTNT +GARD:0003806,OMIM,252605,BTNT +GARD:0003807,Orphanet,581,Exact +GARD:0003807,OMIM,252900,BTNT +GARD:0003807,MedDRA,10056890,Exact +GARD:0003807,OMIM,252920,BTNT +GARD:0003807,UMLS,C0086648,Exact +GARD:0003807,ICD-10,E76.2,NTBT +GARD:0003807,OMIM,252930,BTNT +GARD:0003807,UMLS,C0026706,Exact +GARD:0003807,MeSH,D009084,Exact +GARD:0003807,OMIM,252940,BTNT +GARD:0003807,SNOMED-CT,88393000,NA +GARD:0003818,SNOMED-CT,766992008,NA +GARD:0003818,Orphanet,2774,Exact +GARD:0003818,UMLS,C2674705,Exact +GARD:0003818,OMIM,166300,Exact +GARD:0003824,Orphanet,148,Exact +GARD:0003824,MeSH,D009100,Exact +GARD:0003824,MedDRA,10028176,Exact +GARD:0003824,UMLS,C0026755,Exact +GARD:0003824,ICD-10,E53.8,NTBT +GARD:0003829,SNOMED-CT,30664006,NA +GARD:0003829,Orphanet,652,Exact +GARD:0003829,ICD-10,D44.8,NTBT +GARD:0003829,OMIM,131100,Exact +GARD:0003829,UMLS,C0025267,Exact +GARD:0003829,MeSH,D018761,Exact +GARD:0003829,MedDRA,10028190,Exact +GARD:0003830,SNOMED-CT,61808009,NA +GARD:0003830,Orphanet,653,Exact +GARD:0003830,MedDRA,10028191,Exact +GARD:0003830,OMIM,171400,BTNT +GARD:0003830,ICD-10,D44.8,NTBT +GARD:0003830,OMIM,155240,BTNT +GARD:0003830,UMLS,C0025268,Exact +GARD:0003830,OMIM,162300,BTNT +GARD:0003834,Orphanet,33108,Exact +GARD:0003834,ICD-10,Q79.8,NTBT +GARD:0003834,OMIM,253290,Exact +GARD:0003834,MeSH,C537378,Exact +GARD:0003834,UMLS,C1854678,Exact +GARD:0003834,SNOMED-CT,60192008,NA +GARD:0003836,SNOMED-CT,62628008,NA +GARD:0003836,Orphanet,3237,Exact +GARD:0003836,OMIM,186500,BTNT +GARD:0003836,UMLS,C0175700,Exact +GARD:0003836,OMIM,610017,BTNT +GARD:0003836,OMIM,612961,BTNT +GARD:0003836,UMLS,C0342282,Exact +GARD:0003836,ICD-10,Q78.8,NTBT +GARD:0003843,SNOMED-CT,111503008,NA +GARD:0003843,Orphanet,258,Exact +GARD:0003843,UMLS,C1263858,Exact +GARD:0003843,OMIM,607855,Exact +GARD:0003843,OMIM,618138,NTBT +GARD:0003843,ICD-10,G71.2,NTBT +GARD:0003844,Orphanet,1878,Exact +GARD:0003844,UMLS,C0270968,Exact +GARD:0003844,OMIM,254110,Exact +GARD:0003844,ICD-10,G71.0,NTBT +GARD:0003851,SNOMED-CT,718850008,NA +GARD:0003851,Orphanet,119,Exact +GARD:0003851,UMLS,C2930900,Exact +GARD:0003851,UMLS,C1858593,Exact +GARD:0003851,OMIM,604286,Exact +GARD:0003851,ICD-10,G71.0,NTBT +GARD:0003856,Orphanet,64755,Exact +GARD:0003856,OMIM,604919,Exact +GARD:0003856,UMLS,C1858042,Exact +GARD:0003856,ICD-10,D22.5,NTBT +GARD:0003856,UMLS,C0263579,Exact +GARD:0003858,Orphanet,715,Exact +GARD:0003858,OMIM,300559,Exact +GARD:0003858,UMLS,C1845151,Exact +GARD:0003858,ICD-10,E74.0,NTBT +GARD:0003858,SNOMED-CT,819953000,NA +GARD:0003862,Orphanet,2583,Exact +GARD:0003862,MeSH,D008271,Exact +GARD:0003862,UMLS,C0024449,Exact +GARD:0003862,MedDRA,10028427,Exact +GARD:0003862,ICD-10,B47.0,BTNT +GARD:0003862,ICD-10,B47.9,BTNT +GARD:0003862,ICD-10,B47.1,BTNT +GARD:0003862,SNOMED-CT,410039003,NA +GARD:0003863,SNOMED-CT,765328000,NA +GARD:0003863,Orphanet,2584,Exact +GARD:0003863,OMIM,254400,Exact +GARD:0003863,ICD-10,C84.0,NTBT +GARD:0003865,Orphanet,2585,Exact +GARD:0003865,OMIM,159550,Exact +GARD:0003865,ICD-10,D61.0,NTBT +GARD:0003865,UMLS,C1327919,Exact +GARD:0003865,SNOMED-CT,768556005,NA +GARD:0003868,Orphanet,2587,Exact +GARD:0003868,OMIM,254600,Exact +GARD:0003868,ICD-10,E80.3,NTBT +GARD:0003868,UMLS,C0398595,Exact +GARD:0003868,SNOMED-CT,129644003,NA +GARD:0003872,Orphanet,280620,Exact +GARD:0003872,OMIM,614018,Exact +GARD:0003872,ICD-10,G40.3,NTBT +GARD:0003872,SNOMED-CT,783062001,NA +GARD:0003873,Orphanet,2589,Exact +GARD:0003873,OMIM,159800,Exact +GARD:0003873,UMLS,C1834579,Exact +GARD:0003873,SNOMED-CT,733065003,NA +GARD:0003873,ICD-10,G11.1,NTBT +GARD:0003875,SNOMED-CT,703524005,NA +GARD:0003875,Orphanet,2590,Exact +GARD:0003875,ICD-10,G25.3,NTBT +GARD:0003875,UMLS,C1834569,Exact +GARD:0003875,OMIM,159950,Exact +GARD:0003876,Orphanet,308,Exact +GARD:0003876,MeSH,D020194,Exact +GARD:0003876,MedDRA,10054895,Exact +GARD:0003876,ICD-10,G40.3,NTBT +GARD:0003876,OMIM,254800,Exact +GARD:0003876,OMIM,612437,BTNT +GARD:0003876,UMLS,C0751785,Exact +GARD:0003876,OMIM,310370,BTNT +GARD:0003876,SNOMED-CT,230423006,NA +GARD:0003879,OMIM,550500,Exact +GARD:0003879,UMLS,C1838877,NA +GARD:0003879,DiseaseOntology,80108,NA +GARD:0003881,SNOMED-CT,783722008,NA +GARD:0003881,Orphanet,2596,Exact +GARD:0003881,ICD-10,G71.3,NTBT +GARD:0003881,OMIM,500002,Exact +GARD:0003881,UMLS,C1839028,Exact +GARD:0003884,SNOMED-CT,240087000,NA +GARD:0003884,Orphanet,2593,Exact +GARD:0003884,ICD-10,G71.2,NTBT +GARD:0003884,OMIM,615883,BTNT +GARD:0003884,OMIM,160565,Exact +GARD:0003884,UMLS,C0410207,Exact +GARD:0003885,SNOMED-CT,724138007,NA +GARD:0003885,Orphanet,2598,Exact +GARD:0003885,OMIM,500011,BTNT +GARD:0003885,ICD-10,G71.3,NTBT +GARD:0003885,UMLS,C1838103,Exact +GARD:0003885,OMIM,600462,Exact +GARD:0003885,MeSH,C536101,Exact +GARD:0003885,OMIM,613561,BTNT +GARD:0003889,Orphanet,1358,Exact +GARD:0003889,SNOMED-CT,429753001,NA +GARD:0003889,OMIM,254940,Exact +GARD:0003889,UMLS,C1850746,Exact +GARD:0003889,ICD-10,Q87.0,NTBT +GARD:0003892,Orphanet,25980,Exact +GARD:0003892,ICD-10,G71.8,NTBT +GARD:0003892,OMIM,310440,Exact +GARD:0003892,UMLS,C1839615,Exact +GARD:0003892,UMLS,C2931230,Exact +GARD:0003892,SNOMED-CT,719815005,NA +GARD:0003896,Orphanet,611,Exact +GARD:0003896,OMIM,147421,Exact +GARD:0003896,UMLS,C0751713,Exact +GARD:0003896,MedDRA,10066407,Exact +GARD:0003896,UMLS,C0238190,Exact +GARD:0003896,ICD-10,M60.8,NTBT +GARD:0003896,SNOMED-CT,72315009,NA +GARD:0003902,SNOMED-CT,723410002,NA +GARD:0003902,Orphanet,2608,Exact +GARD:0003902,MeSH,C536108,Exact +GARD:0003902,UMLS,C2936859,Exact +GARD:0003902,OMIM,310465,Exact +GARD:0003902,ICD-10,Q87.8,NTBT +GARD:0003903,Orphanet,79281,Exact +GARD:0003903,UMLS,C1836545,Exact +GARD:0003903,OMIM,609241,NTBT +GARD:0003903,ICD-10,E77.1,NTBT +GARD:0003904,SNOMED-CT,234638009,NA +GARD:0003904,Orphanet,647,Exact +GARD:0003904,MeSH,C531759,Exact +GARD:0003904,OMIM,251260,Exact +GARD:0003904,ICD-10,Q87.8,NTBT +GARD:0003904,MedDRA,10067857,Exact +GARD:0003904,UMLS,C2930831,Exact +GARD:0003904,UMLS,C0398791,Exact +GARD:0003904,MeSH,D049932,Exact +GARD:0003908,Orphanet,2609,Exact +GARD:0003908,OMIM,618229,BTNT +GARD:0003908,OMIM,252010,Exact +GARD:0003908,OMIM,618246,BTNT +GARD:0003908,OMIM,618241,BTNT +GARD:0003908,OMIM,618238,BTNT +GARD:0003908,OMIM,618232,BTNT +GARD:0003908,OMIM,618253,BTNT +GARD:0003908,OMIM,618776,BTNT +GARD:0003908,OMIM,618242,BTNT +GARD:0003908,OMIM,618226,BTNT +GARD:0003908,OMIM,619170,BTNT +GARD:0003908,OMIM,618245,BTNT +GARD:0003908,OMIM,618237,BTNT +GARD:0003908,OMIM,301021,BTNT +GARD:0003908,ICD-10,G71.3,NTBT +GARD:0003908,OMIM,618228,BTNT +GARD:0003908,OMIM,618234,BTNT +GARD:0003908,OMIM,618251,BTNT +GARD:0003908,OMIM,619003,BTNT +GARD:0003908,OMIM,618250,BTNT +GARD:0003908,OMIM,618236,BTNT +GARD:0003908,OMIM,618233,BTNT +GARD:0003908,OMIM,619272,BTNT +GARD:0003908,OMIM,618230,BTNT +GARD:0003908,OMIM,301020,BTNT +GARD:0003908,OMIM,618225,BTNT +GARD:0003908,OMIM,618240,BTNT +GARD:0003908,OMIM,618222,BTNT +GARD:0003908,UMLS,C2936907,Exact +GARD:0003908,OMIM,618224,BTNT +GARD:0003908,SNOMED-CT,237988006,NA +GARD:0003909,OMIM,250700,Exact +GARD:0003909,UMLS,C0472786,NA +GARD:0003912,Orphanet,69087,Exact +GARD:0003912,UMLS,C0343111,Exact +GARD:0003912,ICD-10,Q82.4,NTBT +GARD:0003912,OMIM,161000,Exact +GARD:0003912,SNOMED-CT,239084001,NA +GARD:0003916,OMIM,256040,Exact +GARD:0003916,GeneticAlliance,5100,NA +GARD:0003916,DiseaseOntology,50553,NA +GARD:0003916,UMLS,C4746851,NA +GARD:0003916,UMLS,C1850568,NA +GARD:0003916,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome,NA +GARD:0003916,SNOMED-CT,702449004,NA +GARD:0003919,Orphanet,231671,Exact +GARD:0003919,OMIM,618157,Exact +GARD:0003919,OMIM,612781,Exact +GARD:0003919,ICD-10,E23.0,NTBT +GARD:0003919,UMLS,C2748571,Exact +GARD:0003921,Orphanet,231692,Exact +GARD:0003921,OMIM,300123,BTNT +GARD:0003921,ICD-10,E23.0,NTBT +GARD:0003921,OMIM,307200,BTNT +GARD:0003924,Orphanet,181393,Exact +GARD:0003924,ICD-10,E34.3,NTBT +GARD:0003924,UMLS,C0271568,Exact +GARD:0003927,Orphanet,2399,Exact +GARD:0003927,SNOMED-CT,723411003,NA +GARD:0003927,UMLS,C1868660,Exact +GARD:0003927,OMIM,167730,Exact +GARD:0003927,ICD-10,Q10.3,NTBT +GARD:0003928,Orphanet,99811,Exact +GARD:0003928,ICD-10,K59.8,NTBT +GARD:0003928,UMLS,C1855733,Exact +GARD:0003928,MeSH,C537394,Exact +GARD:0003928,OMIM,243185,Exact +GARD:0003929,Orphanet,2663,Exact +GARD:0003929,UMLS,C1850626,Exact +GARD:0003929,MeSH,C538342,Exact +GARD:0003929,OMIM,255990,Exact +GARD:0003929,ICD-10,Q87.8,NTBT +GARD:0003929,SNOMED-CT,716170005,NA +GARD:0003931,Orphanet,85408,Exact +GARD:0003931,ICD-10,M08.3,NTBT +GARD:0003931,SNOMED-CT,410797009,NA +GARD:0003936,SNOMED-CT,722231005,NA +GARD:0003936,Orphanet,2849,Exact +GARD:0003936,UMLS,C0796113,Exact +GARD:0003936,OMIM,267000,Exact +GARD:0003936,ICD-10,Q87.3,NTBT +GARD:0003940,SNOMED-CT,724093004,NA +GARD:0003940,Orphanet,2668,Exact +GARD:0003940,ICD-10,Q87.8,NTBT +GARD:0003940,MeSH,C536401,Exact +GARD:0003940,OMIM,256120,Exact +GARD:0003940,UMLS,C1850553,Exact +GARD:0003943,Orphanet,2669,Exact +GARD:0003943,UMLS,C1850552,Exact +GARD:0003943,MeSH,C536402,Exact +GARD:0003943,ICD-10,Q87.8,NTBT +GARD:0003943,OMIM,256200,Exact +GARD:0003943,SNOMED-CT,724092009,NA +GARD:0003946,SNOMED-CT,718141008,NA +GARD:0003946,Orphanet,656,Exact +GARD:0003946,OMIM,619201,BTNT +GARD:0003946,OMIM,607832,BTNT +GARD:0003946,OMIM,600995,BTNT +GARD:0003946,OMIM,616730,BTNT +GARD:0003946,OMIM,612551,BTNT +GARD:0003946,OMIM,616892,BTNT +GARD:0003946,OMIM,616032,BTNT +GARD:0003946,OMIM,603278,BTNT +GARD:0003946,UMLS,C1868672,Exact +GARD:0003946,OMIM,618179,BTNT +GARD:0003946,ICD-10,N04.8,BTNT +GARD:0003946,OMIM,618176,BTNT +GARD:0003946,OMIM,603965,BTNT +GARD:0003946,OMIM,618178,BTNT +GARD:0003946,OMIM,614131,BTNT +GARD:0003946,OMIM,619155,BTNT +GARD:0003946,OMIM,616893,BTNT +GARD:0003946,OMIM,615244,BTNT +GARD:0003946,OMIM,610725,BTNT +GARD:0003946,OMIM,615573,BTNT +GARD:0003946,OMIM,615861,NTBT +GARD:0003946,OMIM,613237,BTNT +GARD:0003946,ICD-10,N04.1,BTNT +GARD:0003946,ICD-10,N04.3,BTNT +GARD:0003946,OMIM,301028,BTNT +GARD:0003946,OMIM,616220,BTNT +GARD:0003946,OMIM,256370,BTNT +GARD:0003946,OMIM,618177,BTNT +GARD:0003946,OMIM,614196,BTNT +GARD:0003946,OMIM,616002,BTNT +GARD:0003947,Orphanet,657,Exact +GARD:0003947,ICD-10,E16.1,NTBT +GARD:0003947,MeSH,D044903,Exact +GARD:0003947,UMLS,C3888018,Exact +GARD:0003947,UMLS,C0027773,Exact +GARD:0003947,UMLS,C1257959,Exact +GARD:0003947,SNOMED-CT,360339005,NA +GARD:0003948,Orphanet,3350,Exact +GARD:0003948,UMLS,C1860860,Exact +GARD:0003948,ICD-10,G25.0,NTBT +GARD:0003948,SNOMED-CT,782935003,NA +GARD:0003948,OMIM,190310,Exact +GARD:0003949,Orphanet,2672,Exact +GARD:0003949,MeSH,C536407,Exact +GARD:0003949,OMIM,130950,Exact +GARD:0003949,UMLS,C1851708,Exact +GARD:0003949,ICD-10,G11.1,NTBT +GARD:0003953,Orphanet,351,Exact +GARD:0003953,MeSH,C536411,Exact +GARD:0003953,UMLS,C0268233,Exact +GARD:0003953,ICD-10,E77.1,NTBT +GARD:0003953,OMIM,256540,Exact +GARD:0003953,SNOMED-CT,35691006,NA +GARD:0003955,OMIM,162100,Exact +GARD:0003955,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hereditary-neuralgic-amyotrophy,NA +GARD:0003955,DiseaseOntology,10383,NA +GARD:0003955,UMLS,C1834304,NA +GARD:0003955,GeneticAlliance,8525,NA +GARD:0003956,Orphanet,2388,Exact +GARD:0003956,ICD-10,E78.6,NTBT +GARD:0003956,OMIM,200150,Exact +GARD:0003956,UMLS,C0393576,Exact +GARD:0003956,SNOMED-CT,26848004,NA +GARD:0003957,Orphanet,35069,Exact +GARD:0003957,OMIM,610217,BTNT +GARD:0003957,OMIM,256600,Exact +GARD:0003957,ICD-10,G23.0,NTBT +GARD:0003957,UMLS,C0270724,Exact +GARD:0003957,SNOMED-CT,52713000,NA +GARD:0003964,SNOMED-CT,725908007,NA +GARD:0003964,Orphanet,2673,Exact +GARD:0003964,MeSH,C537388,Exact +GARD:0003964,OMIM,256690,NTBT +GARD:0003964,UMLS,C0796088,Exact +GARD:0003964,ICD-10,Q87.8,NTBT +GARD:0003967,Orphanet,2678,Exact +GARD:0003967,ICD-11,EC23.0,NTBT +GARD:0003967,ICD-10,L81.3,Exact +GARD:0003967,OMIM,114030,Exact +GARD:0003967,UMLS,C1861975,Exact +GARD:0003971,Orphanet,2289,Exact +GARD:0003971,ICD-10,G31.0,NTBT +GARD:0003971,UMLS,C1863843,Exact +GARD:0003971,MeSH,C537395,Exact +GARD:0003971,OMIM,603472,Exact +GARD:0003971,SNOMED-CT,715437003,NA +GARD:0003972,Orphanet,255229,Exact +GARD:0003972,OMIM,256810,Exact +GARD:0003972,ICD-10,E88.8,NTBT +GARD:0003972,UMLS,C1850406,Exact +GARD:0003972,SNOMED-CT,784346006,NA +GARD:0003973,SNOMED-CT,715798007,NA +GARD:0003973,Orphanet,99950,Exact +GARD:0003973,UMLS,C1832334,Exact +GARD:0003973,ICD-10,G60.0,NTBT +GARD:0003973,MeSH,C535716,Exact +GARD:0003973,OMIM,601455,Exact +GARD:0003976,SNOMED-CT,398148000,NA +GARD:0003976,Orphanet,970,Exact +GARD:0003976,OMIM,243000,NTBT +GARD:0003976,OMIM,614213,BTNT +GARD:0003976,OMIM,201300,BTNT +GARD:0003976,OMIM,613115,BTNT +GARD:0003976,UMLS,C0270914,Exact +GARD:0003976,UMLS,C0020072,Exact +GARD:0003976,ICD-10,G60.8,NTBT +GARD:0003979,Orphanet,98907,Exact +GARD:0003979,UMLS,C0268238,Exact +GARD:0003979,ICD-10,E75.5,NTBT +GARD:0003979,OMIM,275630,Exact +GARD:0003979,SNOMED-CT,19604005,NA +GARD:0003981,SNOMED-CT,718882006,NA +GARD:0003981,Orphanet,86788,Exact +GARD:0003981,UMLS,C1845987,Exact +GARD:0003981,ICD-10,D70,NTBT +GARD:0003981,OMIM,300299,Exact +GARD:0003982,SNOMED-CT,725137007,NA +GARD:0003982,Orphanet,2690,Exact +GARD:0003982,ICD-10,D82.8,NTBT +GARD:0003986,SNOMED-CT,763714006,NA +GARD:0003986,Orphanet,624,Exact +GARD:0003986,OMIM,163000,Exact +GARD:0003986,ICD-10,Q82.5,NTBT +GARD:0003986,UMLS,C2931029,Exact +GARD:0003986,MeSH,D019339,Exact +GARD:0003986,UMLS,C0235752,Exact +GARD:0003986,MedDRA,10067193,Exact +GARD:0003994,Orphanet,1390,Exact +GARD:0003994,ICD-10,Q87.8,NTBT +GARD:0003995,Orphanet,215,Exact +GARD:0003995,UMLS,C0339535,Exact +GARD:0003995,OMIM,613830,BTNT +GARD:0003995,OMIM,616389,BTNT +GARD:0003995,OMIM,163500,BTNT +GARD:0003995,ICD-10,H53.6,NTBT +GARD:0003995,OMIM,610445,BTNT +GARD:0003995,MeSH,C536122,Exact +GARD:0003995,OMIM,300071,BTNT +GARD:0003995,OMIM,617024,BTNT +GARD:0003995,OMIM,615058,BTNT +GARD:0003995,OMIM,257270,BTNT +GARD:0003995,OMIM,613216,BTNT +GARD:0003995,OMIM,610427,BTNT +GARD:0003995,OMIM,610444,BTNT +GARD:0003995,OMIM,614565,BTNT +GARD:0003995,OMIM,310500,BTNT +GARD:0003995,SNOMED-CT,232061009,NA +GARD:0003999,Orphanet,1884,Exact +GARD:0003999,UMLS,C2931115,Exact +GARD:0003999,ICD-10,Q15.8,NTBT +GARD:0003999,SNOMED-CT,722437006,NA +GARD:0004001,SNOMED-CT,18116006,NA +GARD:0004001,Orphanet,2700,Exact +GARD:0004001,ICD-11,DA0C.31,Exact +GARD:0004001,MeSH,D009625,Exact +GARD:0004001,UMLS,C0028271,Exact +GARD:0004001,MedDRA,10029502,Exact +GARD:0004001,ICD-10,A69.0,Exact +GARD:0004003,SNOMED-CT,237619009,NA +GARD:0004003,Orphanet,225,Exact +GARD:0004003,UMLS,C0342289,Exact +GARD:0004003,OMIM,520000,Exact +GARD:0004003,ICD-10,E13.8,NTBT +GARD:0004003,MeSH,C536246,Exact +GARD:0004010,Orphanet,1947,Exact +GARD:0004010,OMIM,610003,Exact +GARD:0004010,ICD-10,E75.4,NTBT +GARD:0004010,UMLS,C1864923,Exact +GARD:0004011,Orphanet,79293,Exact +GARD:0004011,ICD-10,E78.6,NTBT +GARD:0004011,OMIM,245900,Exact +GARD:0004014,Orphanet,2703,Exact +GARD:0004014,SNOMED-CT,783701002,NA +GARD:0004017,Orphanet,198,Exact +GARD:0004017,ICD-10,E83.0,NTBT +GARD:0004017,UMLS,C1096660,Exact +GARD:0004017,UMLS,C0268353,Exact +GARD:0004017,OMIM,304150,Exact +GARD:0004017,MeSH,C537860,Exact +GARD:0004017,SNOMED-CT,59399004,NA +GARD:0004018,Orphanet,268861,Exact +GARD:0004018,ICD-11,LA07.0,Exact +GARD:0004018,SNOMED-CT,768939009,NA +GARD:0004031,Orphanet,398156,Exact +GARD:0004031,UMLS,C1832352,Exact +GARD:0004031,ICD-10,Q87.0,NTBT +GARD:0004031,OMIM,601452,Exact +GARD:0004031,SNOMED-CT,782783009,NA +GARD:0004034,SNOMED-CT,716174001,NA +GARD:0004034,Orphanet,2720,Exact +GARD:0004034,OMIM,257790,Exact +GARD:0004034,UMLS,C2931646,Exact +GARD:0004034,MeSH,C537866,Exact +GARD:0004037,Orphanet,352731,Exact +GARD:0004037,OMIM,606952,BTNT +GARD:0004037,ICD-10,E70.3,NTBT +GARD:0004037,UMLS,C0268494,Exact +GARD:0004037,OMIM,203100,BTNT +GARD:0004037,SNOMED-CT,765146000,NA +GARD:0004038,SNOMED-CT,26336006,NA +GARD:0004038,Orphanet,79432,Exact +GARD:0004038,UMLS,C0268495,Exact +GARD:0004038,MeSH,C537730,Exact +GARD:0004038,ICD-10,E70.3,NTBT +GARD:0004038,OMIM,203200,Exact +GARD:0004039,SNOMED-CT,63450009,NA +GARD:0004039,Orphanet,79433,Exact +GARD:0004039,UMLS,C2931599,Exact +GARD:0004039,ICD-10,E70.3,NTBT +GARD:0004039,MeSH,C537189,Exact +GARD:0004039,MeSH,C537731,Exact +GARD:0004039,UMLS,C0342683,Exact +GARD:0004039,OMIM,203290,Exact +GARD:0004046,SNOMED-CT,763830009,NA +GARD:0004046,Orphanet,1794,Exact +GARD:0004046,MeSH,C537736,Exact +GARD:0004046,UMLS,C1838348,Exact +GARD:0004046,ICD-10,Q75.1,NTBT +GARD:0004047,SNOMED-CT,715217004,NA +GARD:0004047,Orphanet,1154,Exact +GARD:0004047,OMIM,108145,Exact +GARD:0004047,ICD-10,Q68.8,NTBT +GARD:0004047,UMLS,C1834523,Exact +GARD:0004047,UMLS,C1862472,Exact +GARD:0004049,OMIM,257920,Exact +GARD:0004049,UMLS,C0796059,NA +GARD:0004049,DiseaseOntology,60575,NA +GARD:0004049,GeneticAlliance,4726,NA +GARD:0004050,Orphanet,2715,Exact +GARD:0004050,UMLS,C1850331,Exact +GARD:0004050,OMIM,257970,Exact +GARD:0004051,Orphanet,2722,Exact +GARD:0004051,SNOMED-CT,763828007,NA +GARD:0004053,Orphanet,1811,Exact +GARD:0004053,UMLS,C1832473,Exact +GARD:0004053,OMIM,601319,Exact +GARD:0004053,ICD-10,Q84.8,NTBT +GARD:0004053,MeSH,C537741,Exact +GARD:0004053,SNOMED-CT,403764002,NA +GARD:0004054,Orphanet,2721,Exact +GARD:0004054,OMIM,257980,Exact +GARD:0004054,MeSH,C537742,Exact +GARD:0004054,UMLS,C1275074,Exact +GARD:0004054,ICD-10,Q82.4,NTBT +GARD:0004054,UMLS,C0796093,Exact +GARD:0004054,SNOMED-CT,403762003,NA +GARD:0004060,Orphanet,2755,Exact +GARD:0004060,SNOMED-CT,722106001,NA +GARD:0004060,UMLS,C0796101,Exact +GARD:0004060,OMIM,300484,Exact +GARD:0004060,ICD-10,Q87.0,NTBT +GARD:0004061,SNOMED-CT,722075004,NA +GARD:0004061,Orphanet,2756,Exact +GARD:0004061,OMIM,165590,Exact +GARD:0004061,ICD-10,Q87.0,NTBT +GARD:0004061,UMLS,C1833796,Exact +GARD:0004062,Orphanet,1186,Exact +GARD:0004062,ICD-10,G11.1,NTBT +GARD:0004062,UMLS,C1849096,Exact +GARD:0004062,OMIM,271245,Exact +GARD:0004062,MeSH,C535523,Exact +GARD:0004062,SNOMED-CT,724227000,NA +GARD:0004064,Orphanet,2729,Exact +GARD:0004064,OMIM,604916,Exact +GARD:0004064,ICD-10,Q87.8,NTBT +GARD:0004064,SNOMED-CT,722065002,NA +GARD:0004065,Orphanet,2730,Exact +GARD:0004065,UMLS,C1867924,Exact +GARD:0004065,OMIM,176240,Exact +GARD:0004065,ICD-10,Q73.8,NTBT +GARD:0004065,SNOMED-CT,770946000,NA +GARD:0004066,Orphanet,2260,Exact +GARD:0004066,ICD-10,Q60.4,NTBT +GARD:0004066,ICD-11,LB30.4,Exact +GARD:0004066,SNOMED-CT,18417009,NA +GARD:0004069,Orphanet,2920,Exact +GARD:0004069,ICD-10,Q87.2,NTBT +GARD:0004069,UMLS,C1850320,Exact +GARD:0004069,SNOMED-CT,721017000,NA +GARD:0004069,OMIM,258200,Exact +GARD:0004070,SNOMED-CT,715483009,NA +GARD:0004070,Orphanet,2732,Exact +GARD:0004070,ICD-10,Q04.8,NTBT +GARD:0004071,Orphanet,98755,Exact +GARD:0004071,SNOMED-CT,715748006,NA +GARD:0004071,ICD-10,G11.8,NTBT +GARD:0004071,OMIM,164400,Exact +GARD:0004071,UMLS,C0752120,Exact +GARD:0004072,Orphanet,98756,Exact +GARD:0004072,ICD-10,G11.2,NTBT +GARD:0004072,OMIM,183090,Exact +GARD:0004072,UMLS,C0752121,Exact +GARD:0004072,SNOMED-CT,715751004,NA +GARD:0004075,Orphanet,659,Exact +GARD:0004075,OMIM,300918,BTNT +GARD:0004075,ICD-10,Q82.8,NTBT +GARD:0004075,OMIM,619208,BTNT +GARD:0004075,OMIM,614594,BTNT +GARD:0004075,MedDRA,10068842,Exact +GARD:0004075,UMLS,C2609071,Exact +GARD:0004075,SNOMED-CT,239072003,NA +GARD:0004076,Orphanet,93329,Exact +GARD:0004076,OMIM,258315,Exact +GARD:0004076,UMLS,C2936816,Exact +GARD:0004076,UMLS,C1850318,Exact +GARD:0004076,ICD-10,Q78.8,NTBT +GARD:0004076,SNOMED-CT,725166005,NA +GARD:0004079,Orphanet,2736,Exact +GARD:0004079,MeSH,C537747,Exact +GARD:0004079,OMIM,258320,Exact +GARD:0004079,UMLS,C1850317,Exact +GARD:0004079,ICD-10,Q87.8,NTBT +GARD:0004079,SNOMED-CT,719408007,NA +GARD:0004080,Orphanet,93929,Exact +GARD:0004080,ICD-11,LB17.3,Exact +GARD:0004080,MedDRA,10067424,Exact +GARD:0004080,UMLS,C1850321,Exact +GARD:0004080,OMIM,258040,Exact +GARD:0004080,UMLS,C0345217,Exact +GARD:0004080,ICD-10,Q64.1,NTBT +GARD:0004080,SNOMED-CT,20815007,NA +GARD:0004081,SNOMED-CT,80880002,NA +GARD:0004081,Orphanet,490,Exact +GARD:0004081,ICD-10,Q43.0,NTBT +GARD:0004083,Orphanet,1487,Exact +GARD:0004083,OMIM,106995,Exact +GARD:0004083,UMLS,C1862841,Exact +GARD:0004083,ICD-10,Q84.6,NTBT +GARD:0004083,SNOMED-CT,720747002,NA +GARD:0004085,Orphanet,221046,Exact +GARD:0004085,UMLS,C1858723,Exact +GARD:0004085,OMIM,604173,Exact +GARD:0004085,ICD-10,D82.8,NTBT +GARD:0004085,SNOMED-CT,772126000,NA +GARD:0004098,SNOMED-CT,254068007,NA +GARD:0004098,Orphanet,2746,Exact +GARD:0004098,UMLS,C0432219,Exact +GARD:0004098,MeSH,C537122,Exact +GARD:0004098,ICD-10,Q78.8,NTBT +GARD:0004098,OMIM,258480,Exact +GARD:0004106,Orphanet,1475,Exact +GARD:0004106,UMLS,C1852759,Exact +GARD:0004106,ICD-10,Q60.4,NTBT +GARD:0004106,OMIM,120330,Exact +GARD:0004106,SNOMED-CT,446449009,NA +GARD:0004107,SNOMED-CT,254976006,NA +GARD:0004107,Orphanet,2086,Exact +GARD:0004107,ICD-10,D33.3,NTBT +GARD:0004107,UMLS,C0796418,Exact +GARD:0004116,Orphanet,2749,Exact +GARD:0004116,ICD-10,Q87.5,NTBT +GARD:0004118,Orphanet,141000,Exact +GARD:0004118,OMIM,612913,Exact +GARD:0004118,UMLS,C2752048,Exact +GARD:0004118,ICD-10,Q87.0,NTBT +GARD:0004118,SNOMED-CT,718681002,NA +GARD:0004119,Orphanet,85286,Exact +GARD:0004119,ICD-10,Q87.8,NTBT +GARD:0004119,OMIM,300238,Exact +GARD:0004119,SNOMED-CT,718900002,NA +GARD:0004120,Orphanet,2919,Exact +GARD:0004120,OMIM,174300,Exact +GARD:0004120,ICD-10,Q87.0,NTBT +GARD:0004120,UMLS,C1868118,Exact +GARD:0004120,SNOMED-CT,722105002,NA +GARD:0004121,Orphanet,2750,Exact +GARD:0004121,SNOMED-CT,763833006,NA +GARD:0004121,UMLS,C2931426,Exact +GARD:0004121,UMLS,C1510460,Exact +GARD:0004121,OMIM,311200,Exact +GARD:0004121,ICD-10,Q87.0,NTBT +GARD:0004129,SNOMED-CT,733064004,NA +GARD:0004129,Orphanet,2760,Exact +GARD:0004129,MeSH,C537138,Exact +GARD:0004129,UMLS,C1833792,Exact +GARD:0004129,OMIM,165660,Exact +GARD:0004129,ICD-10,C41.9,NTBT +GARD:0004130,Orphanet,1427,Exact +GARD:0004130,SNOMED-CT,254060000,NA +GARD:0004130,OMIM,215150,Exact +GARD:0004130,ICD-10,Q77.7,NTBT +GARD:0004131,SNOMED-CT,55166000,NA +GARD:0004131,Orphanet,3314,Exact +GARD:0004131,OMIM,165700,Exact +GARD:0004131,ICD-10,M93.2,NTBT +GARD:0004133,Orphanet,251262,Exact +GARD:0004133,ICD-10,M93.2,NTBT +GARD:0004133,OMIM,165800,Exact +GARD:0004133,UMLS,C3665488,Exact +GARD:0004133,SNOMED-CT,715899006,NA +GARD:0004136,Orphanet,2769,Exact +GARD:0004136,SNOMED-CT,773278003,NA +GARD:0004136,OMIM,259250,Exact +GARD:0004136,UMLS,C1850186,Exact +GARD:0004139,Orphanet,2772,Exact +GARD:0004139,ICD-10,Q78.0,NTBT +GARD:0004139,MeSH,C537558,Exact +GARD:0004139,OMIM,259410,Exact +GARD:0004139,UMLS,C1850184,Exact +GARD:0004142,Orphanet,2645,Exact +GARD:0004142,OMIM,166250,Exact +GARD:0004142,ICD-10,Q87.1,NTBT +GARD:0004142,UMLS,C0432283,Exact +GARD:0004142,MeSH,C536050,Exact +GARD:0004142,SNOMED-CT,254144002,NA +GARD:0004148,SNOMED-CT,254129003,NA +GARD:0004148,Orphanet,2780,Exact +GARD:0004148,OMIM,300373,Exact +GARD:0004148,UMLS,C0432268,Exact +GARD:0004148,ICD-10,Q78.8,NTBT +GARD:0004148,MeSH,C536053,Exact +GARD:0004151,Orphanet,2783,Exact +GARD:0004151,UMLS,C2931097,Exact +GARD:0004151,ICD-10,Q78.2,NTBT +GARD:0004151,OMIM,607634,Exact +GARD:0004151,UMLS,C1843330,Exact +GARD:0004151,MeSH,C536056,Exact +GARD:0004153,OMIM,259720,Exact +GARD:0004153,UMLS,C1968603,NA +GARD:0004153,DiseaseOntology,110939,NA +GARD:0004153,GeneticAlliance,5481,NA +GARD:0004154,Orphanet,2785,Exact +GARD:0004154,UMLS,C1849435,Exact +GARD:0004154,OMIM,267200,BTNT +GARD:0004154,ICD-10,Q78.2,NTBT +GARD:0004154,MeSH,C536058,Exact +GARD:0004154,SNOMED-CT,254122007,NA +GARD:0004154,OMIM,259730,Exact +GARD:0004155,Orphanet,2781,Exact +GARD:0004155,MedDRA,10031280,Exact +GARD:0004155,ICD-10,Q78.2,Exact +GARD:0004155,MeSH,D010022,Exact +GARD:0004155,UMLS,C0029454,Exact +GARD:0004155,SNOMED-CT,1926006,NA +GARD:0004156,SNOMED-CT,254121000,NA +GARD:0004156,Orphanet,210110,Exact +GARD:0004156,UMLS,C1969093,Exact +GARD:0004156,UMLS,C0432261,Exact +GARD:0004156,ICD-10,Q78.2,NTBT +GARD:0004156,OMIM,611497,Exact +GARD:0004157,OMIM,259710,Exact +GARD:0004157,GeneticAlliance,5478,NA +GARD:0004157,UMLS,C1850126,NA +GARD:0004157,DiseaseOntology,110943,NA +GARD:0004160,SNOMED-CT,254112001,NA +GARD:0004160,Orphanet,2788,Exact +GARD:0004160,UMLS,C0432252,Exact +GARD:0004160,OMIM,259770,Exact +GARD:0004160,MedDRA,10052452,Exact +GARD:0004160,MeSH,C536063,Exact +GARD:0004160,ICD-10,Q87.5,NTBT +GARD:0004163,Orphanet,79093,Exact +GARD:0004163,UMLS,C0472347,Exact +GARD:0004163,ICD-11,8A45.21,Exact +GARD:0004163,UMLS,C0348023,Exact +GARD:0004163,ICD-10,G37.4,NTBT +GARD:0004163,SNOMED-CT,230379007,NA +GARD:0004166,Orphanet,1338,Exact +GARD:0004166,UMLS,C2931046,Exact +GARD:0004166,MeSH,C535849,Exact +GARD:0004166,OMIM,217085,Exact +GARD:0004166,ICD-10,Q87.8,NTBT +GARD:0004166,SNOMED-CT,783738002,NA +GARD:0004168,Orphanet,2791,Exact +GARD:0004168,UMLS,C1833693,Exact +GARD:0004168,ICD-10,K00.2,NTBT +GARD:0004168,OMIM,166750,Exact +GARD:0004169,Orphanet,2792,Exact +GARD:0004169,OMIM,166780,Exact +GARD:0004169,OMIM,615560,BTNT +GARD:0004169,UMLS,C2931416,Exact +GARD:0004169,UMLS,C1833691,Exact +GARD:0004169,ICD-10,Q87.0,NTBT +GARD:0004169,SNOMED-CT,763860004,NA +GARD:0004170,Orphanet,2793,Exact +GARD:0004170,UMLS,C1850105,Exact +GARD:0004170,ICD-10,Q87.5,NTBT +GARD:0004170,OMIM,259780,Exact +GARD:0004170,UMLS,C2711794,Exact +GARD:0004170,SNOMED-CT,441944007,NA +GARD:0004176,SNOMED-CT,763127004,NA +GARD:0004176,Orphanet,1179,Exact +GARD:0004176,ICD-10,G96.8,NTBT +GARD:0004176,OMIM,168885,Exact +GARD:0004176,UMLS,C1868576,Exact +GARD:0004183,SNOMED-CT,722125003,NA +GARD:0004183,Orphanet,3203,Exact +GARD:0004183,ICD-10,D58.8,NTBT +GARD:0004183,OMIM,185000,Exact +GARD:0004189,Orphanet,1952,Exact +GARD:0004189,UMLS,C1833676,Exact +GARD:0004189,OMIM,167220,Exact +GARD:0004189,MeSH,C538095,Exact +GARD:0004189,ICD-10,Q77.8,NTBT +GARD:0004189,SNOMED-CT,722127006,NA +GARD:0004192,Orphanet,2800,Exact +GARD:0004192,ICD-11,2E64.1,Exact +GARD:0004192,MedDRA,10033366,Exact +GARD:0004192,MedDRA,10068223,Exact +GARD:0004192,ICD-10,C44.5,NTBT +GARD:0004192,UMLS,C0030186,Exact +GARD:0004192,OMIM,167300,Exact +GARD:0004192,MeSH,D010145,Exact +GARD:0004192,SNOMED-CT,254727007,NA +GARD:0004199,Orphanet,2184,Exact +GARD:0004199,UMLS,C2931734,Exact +GARD:0004203,SNOMED-CT,719044008,NA +GARD:0004203,Orphanet,2805,Exact +GARD:0004203,OMIM,167755,BTNT +GARD:0004203,ICD-11,LB21.4,Exact +GARD:0004203,UMLS,C1850096,Exact +GARD:0004203,OMIM,615935,BTNT +GARD:0004203,OMIM,260370,Exact +GARD:0004203,ICD-10,Q45.0,NTBT +GARD:0004204,Orphanet,93292,Exact +GARD:0004204,ICD-10,D13.6,NTBT +GARD:0004204,MeSH,C538110,Exact +GARD:0004204,MedDRA,10058902,Exact +GARD:0004204,UMLS,C1142432,Exact +GARD:0004204,SNOMED-CT,208061000119101,NA +GARD:0004206,SNOMED-CT,715414009,NA +GARD:0004206,Orphanet,1333,Exact +GARD:0004206,OMIM,614320,BTNT +GARD:0004206,UMLS,C2931038,Exact +GARD:0004206,OMIM,606856,BTNT +GARD:0004206,OMIM,613347,BTNT +GARD:0004206,OMIM,613348,BTNT +GARD:0004206,MeSH,C535837,Exact +GARD:0004206,ICD-10,C25,NTBT +GARD:0004206,OMIM,260350,NTBT +GARD:0004210,Orphanet,677,Exact +GARD:0004210,UMLS,C0334489,Exact +GARD:0004210,ICD-10,C25.1,NTBT +GARD:0004210,MeSH,C537162,Exact +GARD:0004210,SNOMED-CT,189814006,NA +GARD:0004213,SNOMED-CT,36517007,NA +GARD:0004213,Orphanet,93276,Exact +GARD:0004213,UMLS,C0016065,Exact +GARD:0004213,ICD-10,Q78.1,NTBT +GARD:0004213,MedDRA,10036120,Exact +GARD:0004213,MeSH,D005359,Exact +GARD:0004214,SNOMED-CT,425868004,NA +GARD:0004214,Orphanet,2807,Exact +GARD:0004214,OMIM,260500,Exact +GARD:0004214,UMLS,C0205770,Exact +GARD:0004214,ICD-10,D33.0,NTBT +GARD:0004214,MedDRA,10008777,Exact +GARD:0004214,MeSH,D020288,Exact +GARD:0004219,Orphanet,100998,Exact +GARD:0004219,OMIM,270685,Exact +GARD:0004219,ICD-10,G11.4,NTBT +GARD:0004219,UMLS,C2931276,Exact +GARD:0004219,SNOMED-CT,230263009,NA +GARD:0004222,Orphanet,2646,Exact +GARD:0004222,UMLS,C1868616,Exact +GARD:0004222,ICD-10,Q87.1,NTBT +GARD:0004222,SNOMED-CT,722210007,NA +GARD:0004222,OMIM,168400,Exact +GARD:0004222,MeSH,C537172,Exact +GARD:0004223,SNOMED-CT,771186004,NA +GARD:0004223,Orphanet,2825,Exact +GARD:0004223,UMLS,C1838256,Exact +GARD:0004223,OMIM,600331,Exact +GARD:0004223,ICD-10,Q87.8,NTBT +GARD:0004223,MeSH,C537174,Exact +GARD:0004224,Orphanet,851,Exact +GARD:0004224,OMIM,617443,BTNT +GARD:0004224,MeSH,C538617,Exact +GARD:0004224,ICD-10,D69.4,NTBT +GARD:0004224,UMLS,C1956093,Exact +GARD:0004224,OMIM,188025,Exact +GARD:0004224,UMLS,C1861178,Exact +GARD:0004224,SNOMED-CT,441134009,NA +GARD:0004227,SNOMED-CT,723866006,NA +GARD:0004227,Orphanet,228140,Exact +GARD:0004227,OMIM,612956,BTNT +GARD:0004227,ICD-10,I49.0,NTBT +GARD:0004227,OMIM,603829,Exact +GARD:0004228,SNOMED-CT,72893007,NA +GARD:0004228,Orphanet,2901,Exact +GARD:0004228,ICD-11,8B91.0,Exact +GARD:0004228,ICD-10,G54.5,NTBT +GARD:0004228,UMLS,C0221759,Exact +GARD:0004228,MedDRA,10063020,Exact +GARD:0004228,OMIM,162100,BTNT +GARD:0004228,UMLS,C1510479,Exact +GARD:0004229,Orphanet,1330,Exact +GARD:0004229,MeSH,C536112,Exact +GARD:0004229,ICD-10,Q21.2,NTBT +GARD:0004229,UMLS,C0344735,Exact +GARD:0004229,SNOMED-CT,718216009,NA +GARD:0004235,Orphanet,94083,Exact +GARD:0004235,OMIM,309510,Exact +GARD:0004235,SNOMED-CT,702412005,NA +GARD:0004236,SNOMED-CT,715197005,NA +GARD:0004236,Orphanet,295,Exact +GARD:0004236,UMLS,C2931167,Exact +GARD:0004236,ICD-11,KA62.7,Exact +GARD:0004236,ICD-10,P35.8,NTBT +GARD:0004238,Orphanet,1252,Exact +GARD:0004238,UMLS,C0796197,Exact +GARD:0004238,OMIM,110050,Exact +GARD:0004238,ICD-10,Q87.0,NTBT +GARD:0004238,SNOMED-CT,717913006,NA +GARD:0004259,Orphanet,2976,Exact +GARD:0004259,UMLS,C1868546,Exact +GARD:0004259,MeSH,C536310,Exact +GARD:0004259,OMIM,169170,Exact +GARD:0004259,ICD-10,E34.8,NTBT +GARD:0004259,SNOMED-CT,771262009,NA +GARD:0004260,Orphanet,2439,Exact +GARD:0004260,OMIM,183700,Exact +GARD:0004260,UMLS,C3489790,Exact +GARD:0004260,ICD-10,Q87.0,NTBT +GARD:0004260,UMLS,C1866741,Exact +GARD:0004260,SNOMED-CT,724069009,NA +GARD:0004261,SNOMED-CT,410798004,NA +GARD:0004261,Orphanet,85410,Exact +GARD:0004261,ICD-10,M08.4,Exact +GARD:0004261,ICD-11,FA24.0,Exact +GARD:0004261,UMLS,C2931171,Exact +GARD:0004264,Orphanet,2836,Exact +GARD:0004264,OMIM,260565,Exact +GARD:0004264,UMLS,C0796122,Exact +GARD:0004264,ICD-10,G31.8,NTBT +GARD:0004264,MeSH,C536317,Exact +GARD:0004264,UMLS,C1850055,Exact +GARD:0004264,SNOMED-CT,442511009,NA +GARD:0004265,Orphanet,702,Exact +GARD:0004265,MedDRA,10067610,Exact +GARD:0004265,MeSH,D020371,Exact +GARD:0004265,OMIM,312080,Exact +GARD:0004265,ICD-11,8A44.0,Exact +GARD:0004265,UMLS,C0205711,Exact +GARD:0004265,ICD-10,E75.2,NTBT +GARD:0004265,OMIM,213900,BTNT +GARD:0004265,SNOMED-CT,64855000,NA +GARD:0004266,Orphanet,280293,Exact +GARD:0004266,OMIM,260600,Exact +GARD:0004266,ICD-10,E75.2,NTBT +GARD:0004269,Orphanet,2840,Exact +GARD:0004269,UMLS,C2930869,Exact +GARD:0004269,MeSH,C535292,Exact +GARD:0004269,UMLS,C1865294,Exact +GARD:0004269,SNOMED-CT,783140003,NA +GARD:0004269,ICD-10,Q68.8,NTBT +GARD:0004269,OMIM,602484,Exact +GARD:0004269,MeSH,C535548,Exact +GARD:0004270,OMIM,169610,Exact +GARD:0004270,Orphanet,704,NTBT +GARD:0004270,UMLS,C1868502,NA +GARD:0004270,DiseaseOntology,60851,NA +GARD:0004270,GeneticAlliance,5654,NA +GARD:0004271,Orphanet,705,Exact +GARD:0004271,ICD-11,5A00.02,Exact +GARD:0004271,UMLS,C0271829,Exact +GARD:0004271,ICD-10,E07.1,NTBT +GARD:0004271,OMIM,274600,Exact +GARD:0004271,MeSH,C536648,Exact +GARD:0004271,SNOMED-CT,70348004,NA +GARD:0004272,SNOMED-CT,59981001,NA +GARD:0004272,Orphanet,49,Exact +GARD:0004272,MeSH,C536649,Exact +GARD:0004272,ICD-10,Q55.5,Exact +GARD:0004272,ICD-11,LB50,Exact +GARD:0004272,UMLS,C1387005,Exact +GARD:0004273,Orphanet,2842,Exact +GARD:0004273,MeSH,C536650,Exact +GARD:0004273,ICD-10,Q55.8,NTBT +GARD:0004273,MedDRA,10067287,Exact +GARD:0004273,UMLS,C1868854,Exact +GARD:0004273,SNOMED-CT,312005008,NA +GARD:0004276,Orphanet,363665,Exact +GARD:0004276,SNOMED-CT,776417008,NA +GARD:0004276,OMIM,601812,Exact +GARD:0004276,ICD-10,E34.8,NTBT +GARD:0004276,UMLS,C1866182,Exact +GARD:0004278,OMIM,261680,Exact +GARD:0004278,GeneticAlliance,5664,NA +GARD:0004278,ICD-10-CM,E74.4,NA +GARD:0004278,SNOMED-CT,5335002,NA +GARD:0004278,UMLS,C0268194,NA +GARD:0004279,OMIM,261650,Exact +GARD:0004279,GeneticAlliance,5665,NA +GARD:0004279,UMLS,C1849821,NA +GARD:0004291,OMIM,610422,Exact +GARD:0004291,GeneticAlliance,321,NA +GARD:0004291,DiseaseOntology,80629,NA +GARD:0004291,UMLS,C1835852,NA +GARD:0004299,Orphanet,2776,Exact +GARD:0004299,OMIM,259610,Exact +GARD:0004299,SNOMED-CT,715487005,NA +GARD:0004302,SNOMED-CT,724147004,NA +GARD:0004302,Orphanet,2496,Exact +GARD:0004302,ICD-10,Q74.8,NTBT +GARD:0004302,UMLS,C1838162,Exact +GARD:0004302,OMIM,600383,Exact +GARD:0004303,Orphanet,3224,Exact +GARD:0004303,SNOMED-CT,721086004,NA +GARD:0004303,ICD-10,Q87.8,NTBT +GARD:0004303,UMLS,C2931654,Exact +GARD:0004304,SNOMED-CT,733088002,NA +GARD:0004304,Orphanet,2921,Exact +GARD:0004304,ICD-10,Q87.2,NTBT +GARD:0004304,UMLS,C2931655,Exact +GARD:0004305,SNOMED-CT,726672000,NA +GARD:0004305,Orphanet,2871,Exact +GARD:0004305,MeSH,C537889,Exact +GARD:0004305,ICD-10,Q87.1,NTBT +GARD:0004305,UMLS,C1849929,Exact +GARD:0004305,OMIM,261560,Exact +GARD:0004311,SNOMED-CT,723455009,NA +GARD:0004311,Orphanet,2874,Exact +GARD:0004311,MeSH,C537893,Exact +GARD:0004311,UMLS,C2931658,Exact +GARD:0004311,ICD-10,Q85.8,NTBT +GARD:0004312,Orphanet,2875,Exact +GARD:0004312,UMLS,C1274879,Exact +GARD:0004312,ICD-10,Q85.8,NTBT +GARD:0004312,SNOMED-CT,403545005,NA +GARD:0004315,Orphanet,1919,Exact +GARD:0004315,ICD-10,Q86.8,NTBT +GARD:0004315,SNOMED-CT,715431002,NA +GARD:0004319,Orphanet,226,Exact +GARD:0004319,UMLS,C0268465,Exact +GARD:0004319,ICD-10,E70.1,NTBT +GARD:0004319,UMLS,C2936906,Exact +GARD:0004319,SNOMED-CT,58256000,NA +GARD:0004319,MeSH,C537896,Exact +GARD:0004319,OMIM,261630,Exact +GARD:0004323,Orphanet,2878,Exact +GARD:0004323,ICD-10,Q87.2,NTBT +GARD:0004323,OMIM,171480,Exact +GARD:0004323,UMLS,C1868390,Exact +GARD:0004323,SNOMED-CT,715506001,NA +GARD:0004329,SNOMED-CT,783717008,NA +GARD:0004329,Orphanet,319646,Exact +GARD:0004329,ICD-10,E77.8,NTBT +GARD:0004329,OMIM,614921,Exact +GARD:0004329,UMLS,C2752015,Exact +GARD:0004331,Orphanet,443811,Exact +GARD:0004331,OMIM,615816,Exact +GARD:0004331,ICD-10,E77.8,NTBT +GARD:0004337,SNOMED-CT,723454008,NA +GARD:0004337,Orphanet,3222,Exact +GARD:0004337,ICD-10,E79.8,NTBT +GARD:0004337,UMLS,C1970827,Exact +GARD:0004337,OMIM,300661,NTBT +GARD:0004344,SNOMED-CT,718122005,NA +GARD:0004344,Orphanet,2884,Exact +GARD:0004344,MeSH,D016116,Exact +GARD:0004344,OMIM,172800,Exact +GARD:0004344,ICD-10,E70.3,NTBT +GARD:0004344,UMLS,C0080024,Exact +GARD:0004346,Orphanet,99,Exact +GARD:0004346,ICD-10,G11.8,NTBT +GARD:0004347,Orphanet,718,Exact +GARD:0004347,ICD-11,LA56,Exact +GARD:0004347,ICD-10,Q87.0,NTBT +GARD:0004347,UMLS,C0031900,Exact +GARD:0004347,OMIM,261800,Exact +GARD:0004347,SNOMED-CT,4602007,NA +GARD:0004357,Orphanet,67042,Exact +GARD:0004357,UMLS,C1854065,Exact +GARD:0004357,ICD-10,H35.5,NTBT +GARD:0004357,OMIM,605670,Exact +GARD:0004357,SNOMED-CT,719431007,NA +GARD:0004358,SNOMED-CT,720345008,NA +GARD:0004358,Orphanet,169095,Exact +GARD:0004358,OMIM,618806,Exact +GARD:0004358,ICD-10,D82.8,NTBT +GARD:0004358,OMIM,601705,Exact +GARD:0004359,Orphanet,169,Exact +GARD:0004359,MeSH,C537187,Exact +GARD:0004359,OMIM,180600,Exact +GARD:0004359,ICD-10,Q84.1,NTBT +GARD:0004359,UMLS,C0263489,Exact +GARD:0004359,SNOMED-CT,21926007,NA +GARD:0004361,Orphanet,2889,Exact +GARD:0004361,UMLS,C0263491,Exact +GARD:0004361,OMIM,261900,Exact +GARD:0004361,ICD-10,Q84.1,NTBT +GARD:0004361,SNOMED-CT,17170005,NA +GARD:0004362,Orphanet,2891,Exact +GARD:0004362,SNOMED-CT,716194005,NA +GARD:0004362,OMIM,261990,Exact +GARD:0004362,MeSH,C537398,Exact +GARD:0004362,UMLS,C1849811,Exact +GARD:0004364,Orphanet,2890,Exact +GARD:0004364,UMLS,C2931483,Exact +GARD:0004364,MeSH,C537399,Exact +GARD:0004364,SNOMED-CT,723451000,NA +GARD:0004365,Orphanet,2741,Exact +GARD:0004365,UMLS,C1833872,Exact +GARD:0004365,OMIM,164900,Exact +GARD:0004365,ICD-10,Q87.8,NTBT +GARD:0004365,SNOMED-CT,715484003,NA +GARD:0004369,Orphanet,3353,Exact +GARD:0004369,SNOMED-CT,763620003,NA +GARD:0004369,UMLS,C2931485,Exact +GARD:0004372,SNOMED-CT,702344008,NA +GARD:0004372,Orphanet,2896,Exact +GARD:0004372,MeSH,C537403,Exact +GARD:0004372,ICD-10,Q87.0,NTBT +GARD:0004372,UMLS,C1970431,Exact +GARD:0004372,OMIM,610954,Exact +GARD:0004375,Orphanet,1078,Exact +GARD:0004375,MeSH,C537511,Exact +GARD:0004375,UMLS,C2931515,Exact +GARD:0004375,OMIM,188201,Exact +GARD:0004375,ICD-10,Q87.2,NTBT +GARD:0004375,SNOMED-CT,733117001,NA +GARD:0004380,Orphanet,722,Exact +GARD:0004380,ICD-11,DA0D.3,Exact +GARD:0004380,UMLS,C0398621,Exact +GARD:0004380,ICD-10,L90.5,NTBT +GARD:0004380,UMLS,C1968804,Exact +GARD:0004380,SNOMED-CT,95840007,NA +GARD:0004380,OMIM,217090,Exact +GARD:0004381,SNOMED-CT,717407006,NA +GARD:0004381,Orphanet,465,Exact +GARD:0004381,OMIM,613329,Exact +GARD:0004381,ICD-11,3B50.1,Exact +GARD:0004381,UMLS,C2750067,Exact +GARD:0004381,ICD-10,D68.8,NTBT +GARD:0004382,Orphanet,85166,Exact +GARD:0004382,ICD-10,Q77.8,NTBT +GARD:0004382,OMIM,151210,Exact +GARD:0004382,UMLS,C1835437,Exact +GARD:0004382,SNOMED-CT,254047006,NA +GARD:0004386,SNOMED-CT,88860002,NA +GARD:0004386,Orphanet,723,Exact +GARD:0004386,ICD-11,1F2G,Exact +GARD:0004386,ICD-10,J17.3*,NTBT +GARD:0004386,ICD-10,B59+,Exact +GARD:0004386,UMLS,C1535939,Exact +GARD:0004391,Orphanet,2908,Exact +GARD:0004391,MeSH,C536321,Exact +GARD:0004391,UMLS,C0406557,Exact +GARD:0004391,ICD-10,Q81.8,NTBT +GARD:0004391,SNOMED-CT,238836000,NA +GARD:0004392,Orphanet,2909,Exact +GARD:0004392,UMLS,C0032339,Exact +GARD:0004392,MeSH,D011038,Exact +GARD:0004392,OMIM,268400,Exact +GARD:0004392,ICD-10,Q82.8,NTBT +GARD:0004392,SNOMED-CT,69093006,NA +GARD:0004410,Orphanet,2913,Exact +GARD:0004410,ICD-10,Q69.2,BTNT +GARD:0004410,MeSH,D017689,Exact +GARD:0004410,ICD-10,Q69.0,BTNT +GARD:0004410,ICD-10,Q69.9,BTNT +GARD:0004410,ICD-10,Q69.1,BTNT +GARD:0004410,OMIM,603596,Exact +GARD:0004410,UMLS,C0152427,Exact +GARD:0004410,MedDRA,10036063,Exact +GARD:0004412,Orphanet,2754,Exact +GARD:0004412,OMIM,614815,BTNT +GARD:0004412,OMIM,277170,Exact +GARD:0004412,UMLS,C2745997,Exact +GARD:0004412,SNOMED-CT,721873007,NA +GARD:0004412,ICD-10,Q04.3,NTBT +GARD:0004412,OMIM,618763,BTNT +GARD:0004412,OMIM,615665,BTNT +GARD:0004412,OMIM,300804,BTNT +GARD:0004412,OMIM,617127,BTNT +GARD:0004413,SNOMED-CT,733087007,NA +GARD:0004413,Orphanet,2917,Exact +GARD:0004413,UMLS,C1868117,Exact +GARD:0004413,OMIM,174310,Exact +GARD:0004413,ICD-10,Q87.2,NTBT +GARD:0004414,OMIM,174200,Exact +GARD:0004414,SNOMED-CT,715707008,NA +GARD:0004414,UMLS,C0220697,NA +GARD:0004414,DiseaseOntology,1148,NA +GARD:0004414,GeneticAlliance,9139,NA +GARD:0004414,UMLS,C1868120,NA +GARD:0004414,UMLS,C4282400,NA +GARD:0004414,UMLS,C3887487,NA +GARD:0004414,SNOMED-CT,715704001,NA +GARD:0004417,SNOMED-CT,725409009,NA +GARD:0004417,Orphanet,93339,Exact +GARD:0004417,UMLS,C1395852,Exact +GARD:0004417,OMIM,174400,Exact +GARD:0004417,ICD-10,Q69.1,Exact +GARD:0004417,ICD-11,LB78.0,NTBT +GARD:0004421,SNOMED-CT,419671004,NA +GARD:0004421,Orphanet,3286,Exact +GARD:0004421,ICD-10,I47.2,NTBT +GARD:0004421,UMLS,C1631597,Exact +GARD:0004421,OMIM,611938,BTNT +GARD:0004421,OMIM,614021,BTNT +GARD:0004421,OMIM,614916,BTNT +GARD:0004421,OMIM,615441,BTNT +GARD:0004421,ICD-11,BC65.5,Exact +GARD:0004421,OMIM,604772,Exact +GARD:0004424,SNOMED-CT,770679002,NA +GARD:0004424,Orphanet,2928,Exact +GARD:0004424,ICD-10,Q87.8,NTBT +GARD:0004427,Orphanet,2930,Exact +GARD:0004427,ICD-11,LD27.01,Exact +GARD:0004427,UMLS,C0282207,Exact +GARD:0004427,OMIM,175500,Exact +GARD:0004427,MedDRA,10062907,Exact +GARD:0004427,ICD-10,D12.6,NTBT +GARD:0004427,SNOMED-CT,76304001,NA +GARD:0004428,Orphanet,2934,Exact +GARD:0004428,OMIM,263630,Exact +GARD:0004428,UMLS,C1849719,Exact +GARD:0004428,SNOMED-CT,724066002,NA +GARD:0004428,ICD-10,Q87.8,NTBT +GARD:0004434,Orphanet,93405,Exact +GARD:0004434,ICD-10,Q70.4,NTBT +GARD:0004434,OMIM,186200,Exact +GARD:0004434,UMLS,C1861355,Exact +GARD:0004434,SNOMED-CT,719158007,NA +GARD:0004436,SNOMED-CT,722376008,NA +GARD:0004436,Orphanet,1234,Exact +GARD:0004436,UMLS,C1849718,Exact +GARD:0004436,OMIM,263650,BTNT +GARD:0004436,ICD-10,Q87.2,NTBT +GARD:0004436,OMIM,619339,BTNT +GARD:0004437,Orphanet,2941,Exact +GARD:0004437,OMIM,601322,Exact +GARD:0004437,UMLS,C1832472,Exact +GARD:0004437,ICD-10,Q87.8,NTBT +GARD:0004437,SNOMED-CT,763821001,NA +GARD:0004438,Orphanet,735,Exact +GARD:0004438,OMIM,175900,BTNT +GARD:0004438,UMLS,C0949506,Exact +GARD:0004438,ICD-10,Q82.8,NTBT +GARD:0004438,OMIM,175800,BTNT +GARD:0004438,SNOMED-CT,80432009,NA +GARD:0004439,Orphanet,79502,Exact +GARD:0004439,UMLS,C1867982,Exact +GARD:0004439,ICD-10,Q82.8,NTBT +GARD:0004439,OMIM,175860,Exact +GARD:0004439,SNOMED-CT,765096001,NA +GARD:0004446,Orphanet,79277,Exact +GARD:0004446,ICD-10,E80.0,NTBT +GARD:0004446,OMIM,263700,Exact +GARD:0004446,SNOMED-CT,22935002,NA +GARD:0004454,Orphanet,2942,Exact +GARD:0004454,ICD-11,8B62,Exact +GARD:0004454,UMLS,C0080040,Exact +GARD:0004454,ICD-10,G14,Exact +GARD:0004454,SNOMED-CT,31097004,NA +GARD:0004457,Orphanet,280892,Exact +GARD:0004457,UMLS,C0042167,Exact +GARD:0004457,ICD-10,H30.2,BTNT +GARD:0004457,MedDRA,10036370,Exact +GARD:0004457,ICD-10,H30.9,BTNT +GARD:0004457,ICD-10,H30.0,BTNT +GARD:0004457,ICD-10,H30.8,BTNT +GARD:0004457,UMLS,C0008526,Exact +GARD:0004457,ICD-10,H30.1,BTNT +GARD:0004457,SNOMED-CT,43363007,NA +GARD:0004459,Orphanet,612,Exact +GARD:0004459,UMLS,C0856123,Exact +GARD:0004459,ICD-10,G71.1,NTBT +GARD:0004459,UMLS,C2931826,Exact +GARD:0004459,MeSH,C538353,Exact +GARD:0004459,OMIM,608390,Exact +GARD:0004465,Orphanet,2876,Exact +GARD:0004465,UMLS,C1849928,Exact +GARD:0004465,OMIM,261575,Exact +GARD:0004465,ICD-10,Q87.8,NTBT +GARD:0004465,SNOMED-CT,723453002,NA +GARD:0004470,SNOMED-CT,722452004,NA +GARD:0004470,Orphanet,2957,Exact +GARD:0004470,ICD-10,Q87.2,NTBT +GARD:0004470,OMIM,176305,Exact +GARD:0004470,MeSH,C538278,Exact +GARD:0004470,UMLS,C1867801,Exact +GARD:0004475,Orphanet,3000,Exact +GARD:0004475,ICD-10,E30.1,NTBT +GARD:0004475,UMLS,C0342549,Exact +GARD:0004475,MedDRA,10063654,Exact +GARD:0004475,MedDRA,10063656,Exact +GARD:0004475,UMLS,C1504412,Exact +GARD:0004475,OMIM,176410,Exact +GARD:0004475,MeSH,C536961,Exact +GARD:0004475,SNOMED-CT,725295005,NA +GARD:0004477,Orphanet,749,Exact +GARD:0004477,UMLS,C0272339,Exact +GARD:0004477,ICD-10,D68.8,NTBT +GARD:0004477,OMIM,612423,Exact +GARD:0004477,SNOMED-CT,48976006,NA +GARD:0004482,Orphanet,2958,Exact +GARD:0004482,OMIM,309610,Exact +GARD:0004482,UMLS,C1839730,Exact +GARD:0004482,SNOMED-CT,719140001,NA +GARD:0004483,Orphanet,79477,Exact +GARD:0004483,ICD-10,E70.3,NTBT +GARD:0004483,UMLS,C1868679,Exact +GARD:0004483,OMIM,607624,Exact +GARD:0004483,MeSH,C537302,Exact +GARD:0004484,SNOMED-CT,86204009,NA +GARD:0004484,Orphanet,244,Exact +GARD:0004484,OMIM,613193,BTNT +GARD:0004484,OMIM,615504,BTNT +GARD:0004484,OMIM,616481,BTNT +GARD:0004484,OMIM,615482,BTNT +GARD:0004484,OMIM,608644,BTNT +GARD:0004484,OMIM,612650,BTNT +GARD:0004484,OMIM,242680,BTNT +GARD:0004484,OMIM,616037,BTNT +GARD:0004484,OMIM,613807,BTNT +GARD:0004484,OMIM,615451,BTNT +GARD:0004484,OMIM,618449,BTNT +GARD:0004484,OMIM,614874,BTNT +GARD:0004484,OMIM,617577,BTNT +GARD:0004484,OMIM,617092,BTNT +GARD:0004484,OMIM,617091,BTNT +GARD:0004484,OMIM,242670,BTNT +GARD:0004484,OMIM,610852,BTNT +GARD:0004484,OMIM,615872,BTNT +GARD:0004484,OMIM,615500,BTNT +GARD:0004484,OMIM,615444,BTNT +GARD:0004484,OMIM,606763,BTNT +GARD:0004484,OMIM,608646,BTNT +GARD:0004484,OMIM,612518,BTNT +GARD:0004484,ICD-10,Q34.8,NTBT +GARD:0004484,OMIM,611884,BTNT +GARD:0004484,OMIM,614935,BTNT +GARD:0004484,OMIM,615294,BTNT +GARD:0004484,OMIM,618695,BTNT +GARD:0004484,OMIM,614017,BTNT +GARD:0004484,OMIM,215518,BTNT +GARD:0004484,OMIM,215520,BTNT +GARD:0004484,OMIM,618781,BTNT +GARD:0004484,OMIM,615481,BTNT +GARD:0004484,OMIM,615505,BTNT +GARD:0004484,OMIM,612274,BTNT +GARD:0004484,OMIM,615067,BTNT +GARD:0004484,OMIM,618063,BTNT +GARD:0004484,OMIM,618801,BTNT +GARD:0004484,OMIM,612649,BTNT +GARD:0004484,MedDRA,10069713,Exact +GARD:0004484,OMIM,613808,BTNT +GARD:0004484,OMIM,300991,BTNT +GARD:0004484,OMIM,612444,BTNT +GARD:0004484,OMIM,608647,BTNT +GARD:0004484,OMIM,244400,Exact +GARD:0004484,OMIM,616726,BTNT +GARD:0004484,OMIM,614679,BTNT +GARD:0004485,Orphanet,247604,Exact +GARD:0004485,ICD-10,G12.2,NTBT +GARD:0004485,UMLS,C1853396,Exact +GARD:0004485,MeSH,C536416,Exact +GARD:0004485,OMIM,606353,Exact +GARD:0004485,SNOMED-CT,717964007,NA +GARD:0004488,SNOMED-CT,726709001,NA +GARD:0004488,Orphanet,3042,Exact +GARD:0004488,UMLS,C0796121,Exact +GARD:0004488,ICD-10,Q87.8,NTBT +GARD:0004488,OMIM,259050,Exact +GARD:0004494,Orphanet,2959,Exact +GARD:0004494,SNOMED-CT,399947002,NA +GARD:0004494,UMLS,C1261128,Exact +GARD:0004494,MeSH,C536422,Exact +GARD:0004494,OMIM,176690,Exact +GARD:0004497,Orphanet,2963,Exact +GARD:0004497,OMIM,612289,Exact +GARD:0004497,UMLS,C2931653,Exact +GARD:0004497,ICD-10,E34.8,NTBT +GARD:0004497,SNOMED-CT,770567006,NA +GARD:0004500,Orphanet,39,Exact +GARD:0004500,UMLS,C0406779,Exact +GARD:0004500,ICD-10,L81.4,NTBT +GARD:0004500,SNOMED-CT,239089006,NA +GARD:0004503,Orphanet,520820,Exact +GARD:0004503,Orphanet,663,BTNT +GARD:0004503,Orphanet,254886,BTNT +GARD:0004503,Orphanet,254892,BTNT +GARD:0004504,OMIM,304400,Exact +GARD:0004504,UMLS,C1844678,NA +GARD:0004504,DiseaseOntology,111737,NA +GARD:0004504,GeneticAlliance,2161,NA +GARD:0004507,Orphanet,99750,Exact +GARD:0004507,MeSH,C537240,Exact +GARD:0004507,UMLS,C1850077,Exact +GARD:0004507,ICD-10,G23.1,NTBT +GARD:0004507,OMIM,260540,BTNT +GARD:0004508,Orphanet,2965,Exact +GARD:0004508,ICD-10,E22.1,ND (not yet decided/unable to decide) +GARD:0004508,MedDRA,10036832,Exact +GARD:0004508,ICD-10,D35.2,ND (not yet decided/unable to decide) +GARD:0004508,MeSH,D015175,Exact +GARD:0004508,UMLS,C0033375,Exact +GARD:0004508,SNOMED-CT,134209002,NA +GARD:0004509,SNOMED-CT,254678009,NA +GARD:0004509,Orphanet,492,Exact +GARD:0004509,ICD-10,L72.1,NTBT +GARD:0004513,SNOMED-CT,81166004,NA +GARD:0004513,Orphanet,2966,Exact +GARD:0004513,ICD-10,D84.1,NTBT +GARD:0004513,UMLS,C0398762,Exact +GARD:0004513,UMLS,C1839454,Exact +GARD:0004513,OMIM,312060,Exact +GARD:0004513,MeSH,C537241,Exact +GARD:0004518,Orphanet,1126,Exact +GARD:0004518,UMLS,C1832412,Exact +GARD:0004518,OMIM,601374,Exact +GARD:0004518,ICD-10,Q04.3,NTBT +GARD:0004520,Orphanet,1331,Exact +GARD:0004520,OMIM,611928,BTNT +GARD:0004520,OMIM,609299,BTNT +GARD:0004520,OMIM,611955,BTNT +GARD:0004520,OMIM,611868,BTNT +GARD:0004520,OMIM,610997,BTNT +GARD:0004520,OMIM,608656,BTNT +GARD:0004520,OMIM,611959,BTNT +GARD:0004520,OMIM,610321,BTNT +GARD:0004520,ICD-10,C61,NTBT +GARD:0004520,OMIM,609558,BTNT +GARD:0004520,OMIM,608658,BTNT +GARD:0004520,MeSH,C537243,Exact +GARD:0004520,OMIM,300704,BTNT +GARD:0004520,OMIM,611100,BTNT +GARD:0004520,OMIM,300147,BTNT +GARD:0004520,OMIM,614731,BTNT +GARD:0004520,OMIM,602759,BTNT +GARD:0004520,OMIM,603688,BTNT +GARD:0004520,OMIM,601518,BTNT +GARD:0004520,UMLS,C2931456,Exact +GARD:0004520,OMIM,611958,BTNT +GARD:0004520,OMIM,176807,NTBT +GARD:0004520,SNOMED-CT,715412008,NA +GARD:0004522,Orphanet,2967,Exact +GARD:0004522,SNOMED-CT,237933007,NA +GARD:0004522,OMIM,193090,Exact +GARD:0004522,ICD-10,E53.8,NTBT +GARD:0004522,UMLS,C0342700,Exact +GARD:0004527,SNOMED-CT,51022005,NA +GARD:0004527,Orphanet,79278,Exact +GARD:0004527,UMLS,C0162568,Exact +GARD:0004527,MedDRA,10015289,Exact +GARD:0004527,MeSH,D046351,Exact +GARD:0004527,ICD-10,E80.0,NTBT +GARD:0004527,OMIM,177000,Exact +GARD:0004528,SNOMED-CT,763797003,NA +GARD:0004528,Orphanet,2508,Exact +GARD:0004528,ICD-10,Q87.8,NTBT +GARD:0004528,OMIM,300004,Exact +GARD:0004531,Orphanet,70,Exact +GARD:0004531,ICD-10,G12.1,NTBT +GARD:0004531,OMIM,253300,BTNT +GARD:0004531,OMIM,271150,BTNT +GARD:0004531,OMIM,253400,BTNT +GARD:0004531,ICD-10,G12.0,NTBT +GARD:0004531,OMIM,253550,BTNT +GARD:0004531,SNOMED-CT,5262007,NA +GARD:0004536,SNOMED-CT,238731001,NA +GARD:0004536,Orphanet,129,Exact +GARD:0004536,MeSH,C531609,Exact +GARD:0004536,ICD-10,L66.0,NTBT +GARD:0004536,UMLS,C0086873,Exact +GARD:0004539,Orphanet,300,Exact +GARD:0004539,SNOMED-CT,238068007,NA +GARD:0004539,OMIM,261515,Exact +GARD:0004539,UMLS,C0342870,Exact +GARD:0004539,ICD-10,E71.3,NTBT +GARD:0004539,MeSH,C536663,Exact +GARD:0004540,Orphanet,750,Exact +GARD:0004540,OMIM,177170,Exact +GARD:0004540,ICD-10,Q77.8,NTBT +GARD:0004540,MeSH,C535819,Exact +GARD:0004540,ICD-11,LD24.60,Exact +GARD:0004540,UMLS,C0410538,Exact +GARD:0004540,SNOMED-CT,22567005,NA +GARD:0004543,SNOMED-CT,238069004,NA +GARD:0004543,Orphanet,2971,Exact +GARD:0004543,UMLS,C0342871,Exact +GARD:0004543,OMIM,264470,Exact +GARD:0004543,ICD-10,E71.3,NTBT +GARD:0004543,MeSH,C536662,Exact +GARD:0004543,UMLS,C1849678,Exact +GARD:0004544,SNOMED-CT,715867000,NA +GARD:0004544,Orphanet,221120,Exact +GARD:0004544,OMIM,600325,Exact +GARD:0004544,UMLS,C0795939,Exact +GARD:0004544,ICD-10,Q82.0,NTBT +GARD:0004550,Orphanet,2983,Exact +GARD:0004550,OMIM,600122,Exact +GARD:0004550,UMLS,C2931233,Exact +GARD:0004550,ICD-10,Q56.3,NTBT +GARD:0004550,SNOMED-CT,719450007,NA +GARD:0004552,Orphanet,171876,Exact +GARD:0004552,UMLS,C1449843,Exact +GARD:0004552,OMIM,264350,Exact +GARD:0004552,ICD-10,N25.8,NTBT +GARD:0004553,Orphanet,757,Exact +GARD:0004553,OMIM,614491,BTNT +GARD:0004553,OMIM,614492,BTNT +GARD:0004553,OMIM,145260,BTNT +GARD:0004553,UMLS,C1449844,Exact +GARD:0004553,OMIM,614496,BTNT +GARD:0004553,OMIM,614495,BTNT +GARD:0004553,ICD-10,I15.1,NTBT +GARD:0004553,SNOMED-CT,15689008,NA +GARD:0004559,Orphanet,2980,Exact +GARD:0004559,OMIM,264475,Exact +GARD:0004559,UMLS,C1849661,Exact +GARD:0004559,ICD-10,Q87.0,NTBT +GARD:0004559,SNOMED-CT,720410001,NA +GARD:0004561,Orphanet,238624,Exact +GARD:0004561,ICD-10,G93.2,Exact +GARD:0004561,UMLS,C0033845,Exact +GARD:0004561,ICD-11,8D60.Y,NTBT +GARD:0004561,OMIM,243200,Exact +GARD:0004561,SNOMED-CT,68267002,NA +GARD:0004568,SNOMED-CT,719256004,NA +GARD:0004568,Orphanet,2988,Exact +GARD:0004568,UMLS,C1838562,Exact +GARD:0004568,ICD-10,Q87.0,NTBT +GARD:0004568,OMIM,600159,Exact +GARD:0004569,SNOMED-CT,716197003,NA +GARD:0004569,Orphanet,2989,Exact +GARD:0004569,OMIM,178000,Exact +GARD:0004569,ICD-10,H11.0,NTBT +GARD:0004570,Orphanet,2987,Exact +GARD:0004570,UMLS,C1867439,Exact +GARD:0004570,SNOMED-CT,784351000,NA +GARD:0004570,OMIM,178200,Exact +GARD:0004573,SNOMED-CT,763462004,NA +GARD:0004573,Orphanet,79447,Exact +GARD:0004573,OMIM,312150,Exact +GARD:0004573,ICD-10,Q79.8,NTBT +GARD:0004577,SNOMED-CT,726619004,NA +GARD:0004577,Orphanet,2999,Exact +GARD:0004577,OMIM,178330,Exact +GARD:0004577,UMLS,C1867437,Exact +GARD:0004582,Orphanet,264675,Exact +GARD:0004582,OMIM,614370,BTNT +GARD:0004582,OMIM,300770,BTNT +GARD:0004582,ICD-10,J84.0,NTBT +GARD:0004582,UMLS,C2931035,Exact +GARD:0004584,Orphanet,2038,Exact +GARD:0004584,UMLS,C0155675,Exact +GARD:0004584,OMIM,265140,Exact +GARD:0004584,ICD-10,Q25.7,NTBT +GARD:0004584,ICD-11,LA90.5,Exact +GARD:0004584,MedDRA,10037332,Exact +GARD:0004584,SNOMED-CT,111289009,NA +GARD:0004586,Orphanet,99050,Exact +GARD:0004586,ICD-10,Q25.7,NTBT +GARD:0004588,SNOMED-CT,253591008,NA +GARD:0004588,Orphanet,1207,Exact +GARD:0004588,UMLS,C0344976,Exact +GARD:0004588,OMIM,178370,Exact +GARD:0004588,ICD-10,Q25.5,NTBT +GARD:0004589,SNOMED-CT,286071000119109,NA +GARD:0004589,Orphanet,99084,Exact +GARD:0004589,ICD-10,Q25.6,Exact +GARD:0004593,Orphanet,3161,Exact +GARD:0004593,ICD-10,Q33.2,Exact +GARD:0004593,ICD-11,LA75.6,Exact +GARD:0004593,SNOMED-CT,18620009,NA +GARD:0004594,Orphanet,3192,Exact +GARD:0004594,ICD-10,Q25.6,Exact +GARD:0004597,SNOMED-CT,6996004,NA +GARD:0004597,Orphanet,982,Exact +GARD:0004597,ICD-10,Q22.2,NTBT +GARD:0004598,Orphanet,3188,Exact +GARD:0004598,ICD-10,Q26.3,Exact +GARD:0004598,UMLS,C0344679,Exact +GARD:0004598,ICD-11,LA86.3,Exact +GARD:0004598,UMLS,C0265915,Exact +GARD:0004598,SNOMED-CT,11614003,NA +GARD:0004599,Orphanet,3090,Exact +GARD:0004599,ICD-10,Q26.4,BTNT +GARD:0004599,UMLS,C0265916,Exact +GARD:0004599,ICD-10,Q26.2,BTNT +GARD:0004599,ICD-10,Q26.3,BTNT +GARD:0004600,Orphanet,1208,Exact +GARD:0004600,OMIM,265150,Exact +GARD:0004600,ICD-11,LA8A.10,Exact +GARD:0004600,ICD-10,Q22.6,NTBT +GARD:0004600,UMLS,C0344975,Exact +GARD:0004600,SNOMED-CT,253590009,NA +GARD:0004603,Orphanet,99710,Exact +GARD:0004606,Orphanet,760,Exact +GARD:0004606,ICD-11,4A01.1Y,NTBT +GARD:0004606,ICD-10,D81.5,Exact +GARD:0004606,OMIM,613179,Exact +GARD:0004606,UMLS,C0268125,Exact +GARD:0004606,SNOMED-CT,60743005,NA +GARD:0004607,SNOMED-CT,439007008,NA +GARD:0004607,Orphanet,93585,Exact +GARD:0004607,UMLS,C2584778,Exact +GARD:0004607,MeSH,C536901,Exact +GARD:0004607,ICD-10,M31.1,NTBT +GARD:0004610,Orphanet,3003,Exact +GARD:0004610,SNOMED-CT,719258003,NA +GARD:0004610,OMIM,265880,Exact +GARD:0004610,MeSH,C536251,Exact +GARD:0004610,UMLS,C1849523,Exact +GARD:0004610,ICD-10,Q78.8,NTBT +GARD:0004611,SNOMED-CT,89647000,NA +GARD:0004611,Orphanet,763,Exact +GARD:0004611,MeSH,D058631,Exact +GARD:0004611,ICD-10,Q78.8,NTBT +GARD:0004611,OMIM,265800,Exact +GARD:0004611,UMLS,C0238402,Exact +GARD:0004612,Orphanet,3005,Exact +GARD:0004612,MeSH,C536252,Exact +GARD:0004612,UMLS,C0265294,Exact +GARD:0004612,ICD-10,Q78.5,NTBT +GARD:0004612,OMIM,265900,Exact +GARD:0004612,SNOMED-CT,27837003,NA +GARD:0004614,Orphanet,764,Exact +GARD:0004614,UMLS,C0041188,Exact +GARD:0004614,ICD-10,M60.0,NTBT +GARD:0004614,MedDRA,10037652,Exact +GARD:0004614,UMLS,C1704275,Exact +GARD:0004614,MeSH,D052880,Exact +GARD:0004614,SNOMED-CT,65110003,NA +GARD:0004620,Orphanet,79243,Exact +GARD:0004620,UMLS,C1839413,Exact +GARD:0004620,UMLS,C0034345,Exact +GARD:0004620,ICD-10,E74.4,NTBT +GARD:0004620,OMIM,312170,Exact +GARD:0004627,SNOMED-CT,232373003,NA +GARD:0004627,Orphanet,3026,Exact +GARD:0004627,MeSH,C536263,Exact +GARD:0004627,OMIM,179270,Exact +GARD:0004627,UMLS,C2931464,Exact +GARD:0004627,UMLS,C0339838,Exact +GARD:0004627,MeSH,C537280,Exact +GARD:0004628,SNOMED-CT,699300009,NA +GARD:0004628,Orphanet,2712,Exact +GARD:0004628,ICD-10,Q87.8,NTBT +GARD:0004628,MeSH,C537735,Exact +GARD:0004628,MeSH,C537465,Exact +GARD:0004628,UMLS,C2931601,Exact +GARD:0004628,OMIM,300166,NTBT +GARD:0004628,UMLS,C1846265,Exact +GARD:0004633,Orphanet,3016,Exact +GARD:0004633,OMIM,312190,Exact +GARD:0004633,MeSH,C535281,Exact +GARD:0004633,UMLS,C1839410,Exact +GARD:0004633,SNOMED-CT,771264005,NA +GARD:0004634,SNOMED-CT,234583001,NA +GARD:0004634,Orphanet,99843,Exact +GARD:0004634,OMIM,266265,Exact +GARD:0004634,UMLS,C0398739,Exact +GARD:0004634,ICD-10,D84.8,NTBT +GARD:0004635,Orphanet,3018,Exact +GARD:0004635,UMLS,C2930864,Exact +GARD:0004635,OMIM,277175,Exact +GARD:0004635,ICD-10,E78.8,NTBT +GARD:0004635,MeSH,C535283,Exact +GARD:0004635,SNOMED-CT,724002003,NA +GARD:0004636,Orphanet,1051,Exact +GARD:0004636,UMLS,C2930866,Exact +GARD:0004636,OMIM,122430,Exact +GARD:0004636,ICD-10,Q87.8,NTBT +GARD:0004636,SNOMED-CT,723504000,NA +GARD:0004637,Orphanet,3021,Exact +GARD:0004637,MeSH,C535288,Exact +GARD:0004637,ICD-10,Q87.1,NTBT +GARD:0004637,UMLS,C1849453,Exact +GARD:0004637,OMIM,266280,Exact +GARD:0004637,SNOMED-CT,702413000,NA +GARD:0004638,SNOMED-CT,783774006,NA +GARD:0004638,Orphanet,3023,Exact +GARD:0004638,ICD-10,Q87.8,NTBT +GARD:0004638,MeSH,C535290,Exact +GARD:0004638,OMIM,133705,Exact +GARD:0004638,UMLS,C2930867,Exact +GARD:0004641,SNOMED-CT,733097003,NA +GARD:0004641,Orphanet,2278,Exact +GARD:0004641,OMIM,242530,Exact +GARD:0004641,UMLS,C1855787,Exact +GARD:0004641,MeSH,C536274,Exact +GARD:0004644,SNOMED-CT,720517001,NA +GARD:0004644,Orphanet,1188,Exact +GARD:0004644,ICD-10,G11.1,NTBT +GARD:0004644,OMIM,208850,Exact +GARD:0004647,SNOMED-CT,128200000,NA +GARD:0004647,Orphanet,83452,Exact +GARD:0004647,ICD-10,G90.6,BTNT +GARD:0004647,MeSH,D020918,Exact +GARD:0004647,UMLS,C0458219,Exact +GARD:0004647,ICD-10,G90.5,BTNT +GARD:0004647,MedDRA,10064332,Exact +GARD:0004647,OMIM,604335,BTNT +GARD:0004648,Orphanet,772,Exact +GARD:0004648,OMIM,601539,NTBT +GARD:0004648,OMIM,614873,BTNT +GARD:0004648,OMIM,614877,BTNT +GARD:0004648,OMIM,202370,BTNT +GARD:0004648,OMIM,266510,BTNT +GARD:0004648,OMIM,614863,BTNT +GARD:0004648,OMIM,614885,BTNT +GARD:0004648,ICD-10,G60.1,NTBT +GARD:0004648,OMIM,614871,BTNT +GARD:0004648,UMLS,C0282527,Exact +GARD:0004648,OMIM,614867,BTNT +GARD:0004648,OMIM,617370,NTBT +GARD:0004648,MeSH,D052919,Exact +GARD:0004648,OMIM,614920,BTNT +GARD:0004648,SNOMED-CT,238062008,NA +GARD:0004655,SNOMED-CT,782942003,NA +GARD:0004655,Orphanet,2838,Exact +GARD:0004665,Orphanet,3032,Exact +GARD:0004665,OMIM,267010,Exact +GARD:0004665,ICD-10,Q61.9,NTBT +GARD:0004665,UMLS,C2673885,Exact +GARD:0004665,SNOMED-CT,773737004,NA +GARD:0004666,Orphanet,402041,Exact +GARD:0004666,ICD-10,N25.8,NTBT +GARD:0004666,OMIM,602722,BTNT +GARD:0004666,OMIM,267300,BTNT +GARD:0004666,UMLS,C1864498,Exact +GARD:0004667,Orphanet,18,Exact +GARD:0004667,OMIM,602722,BTNT +GARD:0004667,MedDRA,10045224,Exact +GARD:0004667,OMIM,179800,BTNT +GARD:0004667,UMLS,C1704380,Exact +GARD:0004667,ICD-10,N25.8,NTBT +GARD:0004667,SNOMED-CT,236461000,NA +GARD:0004667,OMIM,267300,BTNT +GARD:0004667,OMIM,611590,BTNT +GARD:0004667,UMLS,C0259810,Exact +GARD:0004668,Orphanet,93608,Exact +GARD:0004668,MeSH,C538565,Exact +GARD:0004668,OMIM,179800,Exact +GARD:0004668,UMLS,C2931885,Exact +GARD:0004668,ICD-10,N25.8,NTBT +GARD:0004680,SNOMED-CT,715240000,NA +GARD:0004680,Orphanet,1852,Exact +GARD:0004680,OMIM,312550,Exact +GARD:0004680,ICD-10,Q14.1,NTBT +GARD:0004683,Orphanet,3085,Exact +GARD:0004683,ICD-10,Q87.8,NTBT +GARD:0004683,UMLS,C1849401,Exact +GARD:0004683,OMIM,268020,Exact +GARD:0004683,SNOMED-CT,724001005,NA +GARD:0004684,OMIM,500004,Exact +GARD:0004684,SNOMED-CT,57838006,NA +GARD:0004684,SNOMED-CT,73119000,NA +GARD:0004684,UMLS,C0271097,NA +GARD:0004684,DiseaseOntology,110829,NA +GARD:0004690,Orphanet,792,Exact +GARD:0004690,ICD-11,9B73.11,Exact +GARD:0004690,OMIM,312700,Exact +GARD:0004690,ICD-10,Q14.1,NTBT +GARD:0004690,SNOMED-CT,86923008,NA +GARD:0004690,UMLS,C0271091,Exact +GARD:0004694,Orphanet,3095,Exact +GARD:0004694,OMIM,613454,BTNT +GARD:0004694,UMLS,C2748910,Exact +GARD:0004694,OMIM,300672,BTNT +GARD:0004694,ICD-10,F84.2,NTBT +GARD:0004694,OMIM,617903,NTBT +GARD:0004694,OMIM,617904,NTBT +GARD:0004694,OMIM,312750,NTBT +GARD:0004694,SNOMED-CT,718393002,NA +GARD:0004695,Orphanet,3088,Exact +GARD:0004695,OMIM,268130,Exact +GARD:0004695,ICD-10,Q82.8,NTBT +GARD:0004695,UMLS,C1327916,Exact +GARD:0004695,SNOMED-CT,723512008,NA +GARD:0004697,SNOMED-CT,715401008,NA +GARD:0004697,Orphanet,779,Exact +GARD:0004697,ICD-10,L94.0,ND (not yet decided/unable to decide) +GARD:0004697,UMLS,C0748397,Exact +GARD:0004697,ICD-10,K74.3,ND (not yet decided/unable to decide) +GARD:0004697,OMIM,613471,Exact +GARD:0004701,SNOMED-CT,404053004,NA +GARD:0004701,Orphanet,99756,Exact +GARD:0004701,ICD-10,C49.9,NTBT +GARD:0004701,OMIM,268220,Exact +GARD:0004701,UMLS,C0206655,Exact +GARD:0004701,MeSH,D018232,Exact +GARD:0004701,MedDRA,10065867,Exact +GARD:0004702,Orphanet,99757,Exact +GARD:0004702,UMLS,C0206656,Exact +GARD:0004702,OMIM,268210,Exact +GARD:0004702,ICD-10,C49.9,NTBT +GARD:0004702,MeSH,D018233,Exact +GARD:0004702,MedDRA,10065868,Exact +GARD:0004702,SNOMED-CT,404051002,NA +GARD:0004703,Orphanet,2831,Exact +GARD:0004703,OMIM,601438,Exact +GARD:0004703,MeSH,C537609,Exact +GARD:0004703,UMLS,C1832359,Exact +GARD:0004703,ICD-10,Q78.8,NTBT +GARD:0004703,SNOMED-CT,715505002,NA +GARD:0004704,SNOMED-CT,65323003,NA +GARD:0004704,Orphanet,93569,Exact +GARD:0004704,ICD-10,M35.3,Exact +GARD:0004704,UMLS,C0032533,Exact +GARD:0004704,MedDRA,10068240,Exact +GARD:0004704,ICD-11,FA22,Exact +GARD:0004704,UMLS,C1527406,Exact +GARD:0004705,Orphanet,3098,Exact +GARD:0004705,MeSH,C537611,Exact +GARD:0004705,ICD-10,Q87.1,NTBT +GARD:0004705,UMLS,C1849382,Exact +GARD:0004705,OMIM,268250,Exact +GARD:0004705,SNOMED-CT,770948004,NA +GARD:0004709,SNOMED-CT,782941005,NA +GARD:0004709,Orphanet,3101,Exact +GARD:0004709,OMIM,255710,Exact +GARD:0004709,ICD-10,Q87.8,NTBT +GARD:0004709,UMLS,C2930978,Exact +GARD:0004709,MeSH,C535675,Exact +GARD:0004718,SNOMED-CT,723998001,NA +GARD:0004718,Orphanet,3102,Exact +GARD:0004718,OMIM,268305,Exact +GARD:0004718,UMLS,C1849348,Exact +GARD:0004718,ICD-10,Q87.8,NTBT +GARD:0004718,MeSH,C535677,Exact +GARD:0004721,Orphanet,439,Exact +GARD:0004721,UMLS,C1848587,Exact +GARD:0004721,ICD-10,Q22.6,NTBT +GARD:0004721,OMIM,277200,Exact +GARD:0004721,SNOMED-CT,718135001,NA +GARD:0004722,Orphanet,178303,Exact +GARD:0004722,UMLS,C1842464,Exact +GARD:0004722,ICD-10,Q93.5,NTBT +GARD:0004722,OMIM,608156,Exact +GARD:0004722,SNOMED-CT,719664004,NA +GARD:0004723,Orphanet,97244,Exact +GARD:0004723,MeSH,C535683,Exact +GARD:0004723,OMIM,602771,NTBT +GARD:0004723,ICD-10,G71.2,NTBT +GARD:0004723,SNOMED-CT,240063002,NA +GARD:0004724,Orphanet,1441,Exact +GARD:0004724,UMLS,C2931714,Exact +GARD:0004724,ICD-10,Q93.2,NTBT +GARD:0004724,MeSH,C538046,Exact +GARD:0004724,SNOMED-CT,778043005,NA +GARD:0004729,Orphanet,3104,Exact +GARD:0004729,UMLS,C1868309,Exact +GARD:0004729,MeSH,C535688,Exact +GARD:0004729,ICD-10,Q87.0,NTBT +GARD:0004729,OMIM,172880,Exact +GARD:0004729,SNOMED-CT,770681000,NA +GARD:0004730,OMIM,180750,Exact +GARD:0004730,DiseaseOntology,14768,NA +GARD:0004730,UMLS,C1867146,NA +GARD:0004730,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome,NA +GARD:0004730,GeneticAlliance,6344,NA +GARD:0004732,Orphanet,79499,Exact +GARD:0004732,UMLS,C2675730,Exact +GARD:0004732,ICD-10,Q87.8,NTBT +GARD:0004732,OMIM,124480,Exact +GARD:0004733,SNOMED-CT,716772007,NA +GARD:0004733,Orphanet,529,Exact +GARD:0004733,ICD-10,E88.2,NTBT +GARD:0004737,Orphanet,247775,Exact +GARD:0004737,OMIM,277000,Exact +GARD:0004737,UMLS,C0431648,Exact +GARD:0004737,ICD-10,Q51.8,NTBT +GARD:0004738,Orphanet,3110,Exact +GARD:0004738,UMLS,C1867147,Exact +GARD:0004738,ICD-10,L98.8,NTBT +GARD:0004738,OMIM,180730,Exact +GARD:0004738,MeSH,C535870,Exact +GARD:0004738,SNOMED-CT,721904001,NA +GARD:0004740,Orphanet,1837,Exact +GARD:0004740,OMIM,191420,Exact +GARD:0004740,UMLS,C1860615,Exact +GARD:0004740,ICD-10,Q78.5,NTBT +GARD:0004740,MeSH,C536935,Exact +GARD:0004740,SNOMED-CT,715242008,NA +GARD:0004741,SNOMED-CT,45853006,NA +GARD:0004741,Orphanet,3115,Exact +GARD:0004741,ICD-10,G60.0,NTBT +GARD:0004741,UMLS,C0205713,Exact +GARD:0004741,OMIM,180800,Exact +GARD:0004744,Orphanet,290,Exact +GARD:0004744,MedDRA,10010618,Exact +GARD:0004744,UMLS,C0035921,Exact +GARD:0004744,ICD-10,P35.0,Exact +GARD:0004744,ICD-11,KA62.8,Exact +GARD:0004744,MeSH,D012410,Exact +GARD:0004744,SNOMED-CT,1857005,NA +GARD:0004748,Orphanet,3121,Exact +GARD:0004748,OMIM,180870,Exact +GARD:0004748,ICD-10,Q87.8,NTBT +GARD:0004748,SNOMED-CT,3073006,NA +GARD:0004748,UMLS,C0265248,Exact +GARD:0004752,Orphanet,2351,Exact +GARD:0004752,ICD-10,Q87.8,NTBT +GARD:0004752,UMLS,C2931444,Exact +GARD:0004752,SNOMED-CT,726083008,NA +GARD:0004754,Orphanet,309334,Exact +GARD:0004754,MedDRA,10067531,Exact +GARD:0004754,ICD-10,E77.8,NTBT +GARD:0004754,UMLS,C1096903,Exact +GARD:0004754,OMIM,604369,Exact +GARD:0004754,SNOMED-CT,87074006,NA +GARD:0004767,SNOMED-CT,189948006,NA +GARD:0004767,Orphanet,252164,Exact +GARD:0004767,UMLS,C0854906,Exact +GARD:0004767,MedDRA,10029234,Exact +GARD:0004767,MedDRA,10029235,Exact +GARD:0004767,ICD-10,D36.1,NTBT +GARD:0004767,UMLS,C0027809,Exact +GARD:0004768,Orphanet,93921,Exact +GARD:0004768,UMLS,C2931480,Exact +GARD:0004768,MeSH,C536641,Exact +GARD:0004768,OMIM,162260,BTNT +GARD:0004768,SNOMED-CT,781641005,NA +GARD:0004768,OMIM,162091,Exact +GARD:0004768,ICD-10,Q85.0,NTBT +GARD:0004768,UMLS,C1335929,Exact +GARD:0004768,UMLS,C0917817,Exact +GARD:0004768,OMIM,615670,BTNT +GARD:0004769,Orphanet,75840,Exact +GARD:0004769,OMIM,254090,Exact +GARD:0004769,OMIM,616470,BTNT +GARD:0004769,ICD-10,G71.2,NTBT +GARD:0004769,UMLS,C0410179,Exact +GARD:0004769,SNOMED-CT,240062007,NA +GARD:0004771,Orphanet,3152,Exact +GARD:0004771,OMIM,269500,BTNT +GARD:0004771,UMLS,C0265301,Exact +GARD:0004771,ICD-10,M85.2,NTBT +GARD:0004771,MeSH,C537525,Exact +GARD:0004771,OMIM,614305,BTNT +GARD:0004771,SNOMED-CT,17568006,NA +GARD:0004774,Orphanet,832,Exact +GARD:0004774,OMIM,245050,Exact +GARD:0004774,UMLS,C0342792,Exact +GARD:0004774,ICD-10,E71.3,NTBT +GARD:0004774,SNOMED-CT,238004006,NA +GARD:0004775,Orphanet,915,Exact +GARD:0004775,OMIM,305400,Exact +GARD:0004775,ICD-10,Q87.1,NTBT +GARD:0004775,MedDRA,10067148,Exact +GARD:0004775,UMLS,C0175701,Exact +GARD:0004775,OMIM,100050,BTNT +GARD:0004775,SNOMED-CT,14921002,NA +GARD:0004776,SNOMED-CT,763665007,NA +GARD:0004776,Orphanet,1514,Exact +GARD:0004776,ICD-10,Q87.0,NTBT +GARD:0004776,UMLS,C1839311,Exact +GARD:0004776,OMIM,312860,Exact +GARD:0004777,Orphanet,806,Exact +GARD:0004777,OMIM,262890,Exact +GARD:0004777,UMLS,C0796149,Exact +GARD:0004777,ICD-10,D69.8,NTBT +GARD:0004777,SNOMED-CT,128098009,NA +GARD:0004778,SNOMED-CT,716337006,NA +GARD:0004778,Orphanet,1778,Exact +GARD:0004778,UMLS,C2931522,Exact +GARD:0004778,ICD-10,Q87.8,NTBT +GARD:0004792,Orphanet,842,Exact +GARD:0004792,OMIM,273300,NTBT +GARD:0004792,ICD-10,C62.9,NTBT +GARD:0004792,SNOMED-CT,255107005,NA +GARD:0004792,UMLS,C0036631,Exact +GARD:0004815,Orphanet,29822,Exact +GARD:0004815,ICD-10,G90.8,NTBT +GARD:0004815,UMLS,C2931542,Exact +GARD:0004815,SNOMED-CT,56271007,NA +GARD:0004818,Orphanet,810,Exact +GARD:0004818,ICD-10,A03.1,BTNT +GARD:0004818,ICD-10,A03.3,BTNT +GARD:0004818,ICD-10,A03.2,BTNT +GARD:0004818,MedDRA,10017915,Exact +GARD:0004818,ICD-10,A03.8,BTNT +GARD:0004818,ICD-10,A03.0,BTNT +GARD:0004818,MedDRA,10054178,Exact +GARD:0004818,UMLS,C0013371,Exact +GARD:0004818,ICD-10,A03.9,BTNT +GARD:0004818,SNOMED-CT,36188001,NA +GARD:0004822,Orphanet,26792,Exact +GARD:0004822,MeSH,C537596,Exact +GARD:0004822,ICD-10,E71.3,NTBT +GARD:0004822,OMIM,201470,Exact +GARD:0004822,SNOMED-CT,787412002,NA +GARD:0004832,Orphanet,93268,Exact +GARD:0004832,UMLS,C0432198,Exact +GARD:0004832,OMIM,269860,Exact +GARD:0004832,ICD-10,Q77.2,NTBT +GARD:0004832,SNOMED-CT,254052001,NA +GARD:0004833,Orphanet,93269,Exact +GARD:0004833,ICD-10,Q77.2,NTBT +GARD:0004833,UMLS,C0024507,Exact +GARD:0004833,OMIM,263520,BTNT +GARD:0004833,SNOMED-CT,72922008,NA +GARD:0004833,OMIM,613091,BTNT +GARD:0004834,Orphanet,93270,Exact +GARD:0004834,ICD-10,Q77.2,NTBT +GARD:0004834,SNOMED-CT,726032008,NA +GARD:0004834,UMLS,C0036069,Exact +GARD:0004834,OMIM,613091,NTBT +GARD:0004835,SNOMED-CT,254051008,NA +GARD:0004835,Orphanet,93271,Exact +GARD:0004835,OMIM,613091,BTNT +GARD:0004835,OMIM,615503,BTNT +GARD:0004835,ICD-10,Q77.2,NTBT +GARD:0004835,MeSH,C537602,Exact +GARD:0004835,OMIM,615633,BTNT +GARD:0004835,UMLS,C0432197,Exact +GARD:0004835,OMIM,614091,BTNT +GARD:0004838,Orphanet,2867,Exact +GARD:0004838,MeSH,C537121,Exact +GARD:0004838,UMLS,C1832439,Exact +GARD:0004838,OMIM,601350,Exact +GARD:0004838,ICD-10,Q87.1,NTBT +GARD:0004838,SNOMED-CT,719213009,NA +GARD:0004841,Orphanet,2866,Exact +GARD:0004841,ICD-10,Q87.1,NTBT +GARD:0004841,SNOMED-CT,716192009,NA +GARD:0004856,Orphanet,2863,Exact +GARD:0004856,OMIM,185120,Exact +GARD:0004856,ICD-10,Q87.1,NTBT +GARD:0004856,UMLS,C1861448,Exact +GARD:0004856,SNOMED-CT,763631006,NA +GARD:0004861,SNOMED-CT,719069008,NA +GARD:0004861,Orphanet,2462,Exact +GARD:0004861,UMLS,C1321551,Exact +GARD:0004861,MeSH,C537328,Exact +GARD:0004861,OMIM,182212,Exact +GARD:0004861,ICD-10,Q87.8,NTBT +GARD:0004863,SNOMED-CT,89454001,NA +GARD:0004863,Orphanet,811,Exact +GARD:0004863,UMLS,C0272170,Exact +GARD:0004863,ICD-10,D61.0,NTBT +GARD:0004863,MedDRA,10067940,Exact +GARD:0004863,OMIM,260400,BTNT +GARD:0004863,OMIM,617941,BTNT +GARD:0004865,SNOMED-CT,238051008,NA +GARD:0004865,Orphanet,3166,Exact +GARD:0004865,UMLS,C0342853,Exact +GARD:0004865,OMIM,269921,Exact +GARD:0004865,MeSH,C537332,Exact +GARD:0004865,MedDRA,10067529,Exact +GARD:0004865,ICD-10,E77.8,NTBT +GARD:0004865,UMLS,C2931471,Exact +GARD:0004867,SNOMED-CT,721076000,NA +GARD:0004867,Orphanet,3167,Exact +GARD:0004867,UMLS,C2931473,Exact +GARD:0004867,MeSH,C537335,Exact +GARD:0004869,Orphanet,3168,Exact +GARD:0004869,UMLS,C0342282,Exact +GARD:0004869,UMLS,C1862092,Exact +GARD:0004869,ICD-10,Q74.8,NTBT +GARD:0004869,OMIM,113450,Exact +GARD:0004869,MeSH,C537338,Exact +GARD:0004869,SNOMED-CT,732956000,NA +GARD:0004870,Orphanet,813,Exact +GARD:0004870,OMIM,180860,Exact +GARD:0004870,ICD-10,Q87.1,NTBT +GARD:0004870,MedDRA,10062282,Exact +GARD:0004870,UMLS,C0175693,Exact +GARD:0004870,OMIM,312780,BTNT +GARD:0004870,OMIM,616489,BTNT +GARD:0004870,MeSH,D056730,Exact +GARD:0004870,SNOMED-CT,15069006,NA +GARD:0004873,SNOMED-CT,773750003,NA +GARD:0004873,Orphanet,1968,Exact +GARD:0004873,OMIM,182150,Exact +GARD:0004873,UMLS,C1866962,Exact +GARD:0004873,ICD-10,Q87.0,NTBT +GARD:0004877,OMIM,147250,Exact +GARD:0004877,UMLS,C1840235,NA +GARD:0004877,SNOMED-CT,707609006,NA +GARD:0004877,GeneticAlliance,6613,NA +GARD:0004877,DiseaseOntology,111380,NA +GARD:0004879,OMIM,140400,Exact +GARD:0004879,Orphanet,871,NTBT +GARD:0004879,SNOMED-CT,698251009,NA +GARD:0004879,GeneticAlliance,5980,NA +GARD:0004879,DiseaseOntology,111075,NA +GARD:0004879,UMLS,C1841658,NA +GARD:0004880,OMIM,182190,Exact +GARD:0004880,UMLS,C1866960,NA +GARD:0004880,GeneticAlliance,6618,NA +GARD:0004881,Orphanet,247698,Exact +GARD:0004881,ICD-10,D44.8,NTBT +GARD:0004881,MeSH,D018813,Exact +GARD:0004881,UMLS,C0025268,Exact +GARD:0004881,OMIM,171400,Exact +GARD:0004883,Orphanet,101063,Exact +GARD:0004883,ICD-11,LA82,Exact +GARD:0004883,ICD-10,Q89.3,NTBT +GARD:0004883,UMLS,C0037221,Exact +GARD:0004883,SNOMED-CT,43876007,NA +GARD:0004886,Orphanet,2565,Exact +GARD:0004886,SNOMED-CT,733095006,NA +GARD:0004886,UMLS,C2931060,Exact +GARD:0004886,MeSH,C535914,Exact +GARD:0004886,ICD-10,Q87.5,NTBT +GARD:0004886,OMIM,301940,Exact +GARD:0004891,Orphanet,83629,Exact +GARD:0004891,UMLS,C1970840,Exact +GARD:0004891,SNOMED-CT,719405005,NA +GARD:0004891,OMIM,300232,Exact +GARD:0004891,ICD-10,G11.4,NTBT +GARD:0004898,Orphanet,3394,Exact +GARD:0004898,UMLS,C1261473,Exact +GARD:0004898,SNOMED-CT,424952003,NA +GARD:0004898,UMLS,C0334492,Exact +GARD:0004899,Orphanet,2234,Exact +GARD:0004899,ICD-10,Q87.8,NTBT +GARD:0004899,OMIM,307500,Exact +GARD:0004899,UMLS,C2931285,Exact +GARD:0004899,SNOMED-CT,722459008,NA +GARD:0004900,Orphanet,97283,Exact +GARD:0004900,MedDRA,10041329,Exact +GARD:0004900,UMLS,C0037661,Exact +GARD:0004900,ICD-10,E16.8,NTBT +GARD:0004900,MeSH,D013005,Exact +GARD:0004900,SNOMED-CT,253006001,NA +GARD:0004905,Orphanet,1355,Exact +GARD:0004905,ICD-10,Q87.8,NTBT +GARD:0004905,UMLS,C0796162,Exact +GARD:0004905,OMIM,270460,Exact +GARD:0004905,SNOMED-CT,715987000,NA +GARD:0004910,Orphanet,98,Exact +GARD:0004910,OMIM,270550,Exact +GARD:0004910,MeSH,C536787,Exact +GARD:0004910,UMLS,C1849140,Exact +GARD:0004910,ICD-10,G11.1,NTBT +GARD:0004914,SNOMED-CT,703543005,NA +GARD:0004914,Orphanet,293168,Exact +GARD:0004914,OMIM,607225,Exact +GARD:0004914,UMLS,C2931441,Exact +GARD:0004914,ICD-10,G12.2,NTBT +GARD:0004918,Orphanet,2826,Exact +GARD:0004918,ICD-10,G11.4,NTBT +GARD:0004918,MeSH,C536874,Exact +GARD:0004918,OMIM,182820,Exact +GARD:0004918,UMLS,C1866850,Exact +GARD:0004918,SNOMED-CT,732958004,NA +GARD:0004919,Orphanet,2822,Exact +GARD:0004919,MeSH,C537483,Exact +GARD:0004919,MeSH,C538335,Exact +GARD:0004919,ICD-10,G11.4,NTBT +GARD:0004919,UMLS,C1858479,Exact +GARD:0004919,UMLS,C2931821,Exact +GARD:0004919,OMIM,604360,Exact +GARD:0004919,SNOMED-CT,715491000,NA +GARD:0004921,Orphanet,2821,Exact +GARD:0004921,UMLS,C1866851,Exact +GARD:0004921,MeSH,C536870,Exact +GARD:0004921,ICD-10,G11.4,NTBT +GARD:0004921,OMIM,182815,Exact +GARD:0004921,SNOMED-CT,763402002,NA +GARD:0004922,Orphanet,209951,Exact +GARD:0004922,ICD-10,G11.4,NTBT +GARD:0004922,UMLS,C2749936,Exact +GARD:0004922,OMIM,611225,Exact +GARD:0004922,SNOMED-CT,732932004,NA +GARD:0004923,Orphanet,99015,Exact +GARD:0004923,ICD-10,G11.4,NTBT +GARD:0004923,OMIM,312920,Exact +GARD:0004923,MeSH,C536857,Exact +GARD:0004923,UMLS,C1839264,Exact +GARD:0004923,SNOMED-CT,723622007,NA +GARD:0004924,Orphanet,139480,Exact +GARD:0004924,SNOMED-CT,719103009,NA +GARD:0004924,ICD-10,G11.4,NTBT +GARD:0004924,OMIM,612020,Exact +GARD:0004924,UMLS,C2677586,Exact +GARD:0004925,Orphanet,100985,Exact +GARD:0004925,UMLS,C1866855,Exact +GARD:0004925,OMIM,182601,Exact +GARD:0004925,ICD-10,G11.4,NTBT +GARD:0004925,MeSH,C536865,Exact +GARD:0004925,SNOMED-CT,723820001,NA +GARD:0004926,Orphanet,100986,Exact +GARD:0004926,SNOMED-CT,763373005,NA +GARD:0004926,UMLS,C2931356,Exact +GARD:0004926,MeSH,C536871,Exact +GARD:0004926,ICD-10,G11.4,NTBT +GARD:0004926,OMIM,270800,Exact +GARD:0004926,UMLS,C1849115,Exact +GARD:0004927,SNOMED-CT,715776003,NA +GARD:0004927,Orphanet,99013,Exact +GARD:0004927,UMLS,C3711370,Exact +GARD:0004927,UMLS,C1846564,Exact +GARD:0004927,ICD-10,G11.4,NTBT +GARD:0004927,OMIM,607259,Exact +GARD:0004928,Orphanet,100988,Exact +GARD:0004928,ICD-10,G11.4,NTBT +GARD:0004928,MeSH,C536866,Exact +GARD:0004928,UMLS,C1838192,Exact +GARD:0004928,OMIM,600363,Exact +GARD:0004928,SNOMED-CT,732949006,NA +GARD:0004931,Orphanet,2818,Exact +GARD:0004931,OMIM,270850,Exact +GARD:0004931,ICD-10,G11.4,NTBT +GARD:0004931,UMLS,C1849113,Exact +GARD:0004931,SNOMED-CT,733455003,NA +GARD:0004932,Orphanet,3011,Exact +GARD:0004932,OMIM,270950,Exact +GARD:0004932,UMLS,C1849112,Exact +GARD:0004932,SNOMED-CT,723621000,NA +GARD:0004936,Orphanet,3449,Exact +GARD:0004936,ICD-10,Q87.0,NTBT +GARD:0004936,OMIM,608328,BTNT +GARD:0004936,OMIM,614819,BTNT +GARD:0004936,OMIM,277600,BTNT +GARD:0004936,MeSH,D056846,Exact +GARD:0004936,MedDRA,10064963,Exact +GARD:0004936,UMLS,C0265313,Exact +GARD:0004936,SNOMED-CT,2884008,NA +GARD:0004938,Orphanet,79264,Exact +GARD:0004938,OMIM,610127,BTNT +GARD:0004938,UMLS,C0751383,Exact +GARD:0004938,OMIM,609055,BTNT +GARD:0004938,MedDRA,10052073,Exact +GARD:0004938,OMIM,204200,BTNT +GARD:0004938,OMIM,600143,BTNT +GARD:0004938,SNOMED-CT,61663001,NA +GARD:0004938,OMIM,256730,BTNT +GARD:0004938,OMIM,204500,BTNT +GARD:0004938,ICD-10,E75.4,NTBT +GARD:0004940,Orphanet,3176,Exact +GARD:0004940,ICD-10,Q05.9,NTBT +GARD:0004940,SNOMED-CT,763889002,NA +GARD:0004942,SNOMED-CT,771238004,NA +GARD:0004942,Orphanet,1217,Exact +GARD:0004942,ICD-10,G12.2,NTBT +GARD:0004942,UMLS,C2930956,Exact +GARD:0004945,SNOMED-CT,128212001,NA +GARD:0004945,Orphanet,83418,Exact +GARD:0004945,UMLS,C0393538,Exact +GARD:0004945,UMLS,C2931358,Exact +GARD:0004945,OMIM,253550,Exact +GARD:0004945,ICD-10,G12.1,NTBT +GARD:0004945,ICD-11,8B61.1,Exact +GARD:0004947,OMIM,616866,Exact +GARD:0004947,UMLS,C4225177,NA +GARD:0004947,UMLS,C1849101,NA +GARD:0004950,Orphanet,211017,Exact +GARD:0004950,UMLS,C2936793,Exact +GARD:0004950,OMIM,613371,Exact +GARD:0004950,MeSH,C537206,Exact +GARD:0004950,ICD-10,G11.2,NTBT +GARD:0004950,SNOMED-CT,719253007,NA +GARD:0004952,Orphanet,95434,Exact +GARD:0004952,ICD-10,G11.1,NTBT +GARD:0004952,OMIM,607317,Exact +GARD:0004952,UMLS,C1846492,Exact +GARD:0004952,SNOMED-CT,766814006,NA +GARD:0004953,Orphanet,98766,Exact +GARD:0004953,OMIM,600224,Exact +GARD:0004953,ICD-10,G11.2,NTBT +GARD:0004953,UMLS,C0752123,Exact +GARD:0004953,SNOMED-CT,719302009,NA +GARD:0004954,Orphanet,284332,Exact +GARD:0004954,OMIM,608029,Exact +GARD:0004954,UMLS,C1842676,Exact +GARD:0004954,ICD-10,G11.0,NTBT +GARD:0004954,SNOMED-CT,785300001,NA +GARD:0004955,Orphanet,94147,Exact +GARD:0004955,SNOMED-CT,715726000,NA +GARD:0004955,ICD-10,G11.8,NTBT +GARD:0004955,OMIM,164500,Exact +GARD:0004955,UMLS,C0752125,Exact +GARD:0004956,SNOMED-CT,715753001,NA +GARD:0004956,Orphanet,98760,Exact +GARD:0004956,UMLS,C1837454,Exact +GARD:0004956,MeSH,C537307,Exact +GARD:0004956,ICD-10,G11.2,NTBT +GARD:0004956,OMIM,608768,Exact +GARD:0004958,Orphanet,1185,Exact +GARD:0004958,UMLS,C1849088,Exact +GARD:0004958,ICD-10,G11.8,NTBT +GARD:0004958,OMIM,271270,Exact +GARD:0004958,SNOMED-CT,733033001,NA +GARD:0004963,SNOMED-CT,726724005,NA +GARD:0004963,Orphanet,2063,Exact +GARD:0004963,ICD-10,Q87.8,NTBT +GARD:0004963,OMIM,183300,Exact +GARD:0004963,UMLS,C1866745,Exact +GARD:0004967,SNOMED-CT,722032005,NA +GARD:0004967,Orphanet,2329,Exact +GARD:0004967,UMLS,C1866740,Exact +GARD:0004967,OMIM,183800,Exact +GARD:0004967,MeSH,C537319,Exact +GARD:0004967,ICD-10,Q87.2,NTBT +GARD:0004969,SNOMED-CT,732927000,NA +GARD:0004969,Orphanet,2437,Exact +GARD:0004969,UMLS,C1866739,Exact +GARD:0004969,OMIM,183802,Exact +GARD:0004969,ICD-10,Q87.8,NTBT +GARD:0004970,Orphanet,93357,Exact +GARD:0004970,ICD-10,Q77.7,NTBT +GARD:0004970,OMIM,271510,Exact +GARD:0004970,UMLS,C1300260,Exact +GARD:0004970,SNOMED-CT,389161008,NA +GARD:0004972,SNOMED-CT,716231009,NA +GARD:0004972,Orphanet,3180,Exact +GARD:0004972,UMLS,C1838781,Exact +GARD:0004972,ICD-10,Q87.5,NTBT +GARD:0004972,OMIM,600000,Exact +GARD:0004972,MeSH,C535779,Exact +GARD:0004973,OMIM,609813,Exact +GARD:0004973,GeneticAlliance,6804,NA +GARD:0004973,UMLS,C1853296,NA +GARD:0004973,DiseaseOntology,112361,NA +GARD:0004974,Orphanet,3275,Exact +GARD:0004974,ICD-10,Q76.4,NTBT +GARD:0004974,OMIM,272460,Exact +GARD:0004974,UMLS,C1848934,Exact +GARD:0004974,SNOMED-CT,702351004,NA +GARD:0004976,OMIM,613686,Exact +GARD:0004976,Orphanet,2311,NTBT +GARD:0004976,UMLS,C3150942,NA +GARD:0004976,GeneticAlliance,9348,NA +GARD:0004976,DiseaseOntology,112364,NA +GARD:0004977,OMIM,271630,Exact +GARD:0004977,GeneticAlliance,6827,NA +GARD:0004977,UMLS,C1849048,NA +GARD:0004977,DiseaseOntology,50690,NA +GARD:0004978,Orphanet,1855,Exact +GARD:0004978,SNOMED-CT,254079002,NA +GARD:0004978,UMLS,C0432222,Exact +GARD:0004978,ICD-10,Q77.7,NTBT +GARD:0004978,OMIM,271550,Exact +GARD:0004978,MeSH,C535782,Exact +GARD:0004979,SNOMED-CT,770603000,NA +GARD:0004979,Orphanet,93349,Exact +GARD:0004979,ICD-10,Q77.7,NTBT +GARD:0004979,UMLS,C1848097,Exact +GARD:0004979,OMIM,300106,Exact +GARD:0004980,SNOMED-CT,719201004,NA +GARD:0004980,Orphanet,93352,Exact +GARD:0004980,UMLS,C1865185,Exact +GARD:0004980,ICD-10,Q77.7,NTBT +GARD:0004980,OMIM,602557,Exact +GARD:0004982,SNOMED-CT,254100000,NA +GARD:0004982,Orphanet,93359,Exact +GARD:0004982,ICD-10,Q77.7,NTBT +GARD:0004982,OMIM,271640,Exact +GARD:0004982,UMLS,C0432243,Exact +GARD:0004982,OMIM,618395,BTNT +GARD:0004984,Orphanet,1830,Exact +GARD:0004984,MeSH,C536629,Exact +GARD:0004984,OMIM,242900,Exact +GARD:0004984,ICD-10,Q77.7,NTBT +GARD:0004984,MedDRA,10048699,Exact +GARD:0004984,UMLS,C0877024,Exact +GARD:0004984,SNOMED-CT,723995003,NA +GARD:0004985,OMIM,313400,Exact +GARD:0004985,DiseaseOntology,80362,NA +GARD:0004985,UMLS,C3541456,NA +GARD:0004985,GeneticAlliance,6828,NA +GARD:0004985,SNOMED-CT,51952004,NA +GARD:0004985,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda,NA +GARD:0004987,Orphanet,94068,Exact +GARD:0004987,UMLS,C2745959,Exact +GARD:0004987,SNOMED-CT,278713008,NA +GARD:0004987,OMIM,183900,Exact +GARD:0004987,MedDRA,10062920,Exact +GARD:0004987,MeSH,C535788,Exact +GARD:0004987,ICD-10,Q77.7,NTBT +GARD:0004991,Orphanet,93315,Exact +GARD:0004991,OMIM,184255,Exact +GARD:0004991,MeSH,C535793,Exact +GARD:0004991,ICD-10,Q77.8,NTBT +GARD:0004991,UMLS,C0432221,Exact +GARD:0004991,SNOMED-CT,254078005,NA +GARD:0004993,Orphanet,93317,Exact +GARD:0004993,MeSH,C535798,Exact +GARD:0004993,OMIM,250220,Exact +GARD:0004993,ICD-10,Q77.8,NTBT +GARD:0004993,UMLS,C1855229,Exact +GARD:0004993,SNOMED-CT,389163006,NA +GARD:0004994,Orphanet,1856,Exact +GARD:0004994,OMIM,271700,Exact +GARD:0004994,UMLS,C0796173,Exact +GARD:0004994,ICD-10,Q77.7,NTBT +GARD:0004994,MeSH,C535799,Exact +GARD:0004994,SNOMED-CT,763886009,NA +GARD:0004997,Orphanet,2903,Exact +GARD:0004997,ICD-10,J93.1,NTBT +GARD:0004997,SNOMED-CT,715219001,NA +GARD:0004997,OMIM,173600,Exact +GARD:0005003,Orphanet,841,Exact +GARD:0005003,UMLS,C0259771,Exact +GARD:0005003,ICD-11,2F22,NTBT +GARD:0005003,UMLS,C3671377,Exact +GARD:0005003,ICD-10,L72.2,Exact +GARD:0005003,OMIM,184500,Exact +GARD:0005003,SNOMED-CT,109433009,NA +GARD:0005004,SNOMED-CT,719306007,NA +GARD:0005004,Orphanet,3184,Exact +GARD:0005004,UMLS,C1866650,Exact +GARD:0005004,OMIM,184510,Exact +GARD:0005004,MeSH,C537487,Exact +GARD:0005004,ICD-10,L72.2,NTBT +GARD:0005012,SNOMED-CT,54008006,NA +GARD:0005012,Orphanet,2017,Exact +GARD:0005012,UMLS,C0265696,Exact +GARD:0005012,MeSH,C537489,Exact +GARD:0005012,ICD-10,Q76.7,NTBT +GARD:0005012,UMLS,C2931507,Exact +GARD:0005015,Orphanet,3196,Exact +GARD:0005015,ICD-10,K76.8,NTBT +GARD:0005015,UMLS,C2931508,Exact +GARD:0005015,SNOMED-CT,723583009,NA +GARD:0005018,Orphanet,90653,Exact +GARD:0005018,OMIM,108300,Exact +GARD:0005018,UMLS,C2020284,Exact +GARD:0005018,ICD-10,Q87.5,NTBT +GARD:0005018,MeSH,C537492,Exact +GARD:0005018,OMIM,609508,BTNT +GARD:0005020,Orphanet,90654,Exact +GARD:0005020,MeSH,C537493,Exact +GARD:0005020,ICD-10,Q87.5,NTBT +GARD:0005020,OMIM,604841,Exact +GARD:0005020,UMLS,C1858084,Exact +GARD:0005021,Orphanet,166100,Exact +GARD:0005021,UMLS,C1861481,Exact +GARD:0005021,OMIM,184840,Exact +GARD:0005021,MeSH,C537494,Exact +GARD:0005021,ICD-10,Q87.0,NTBT +GARD:0005021,SNOMED-CT,783097004,NA +GARD:0005023,Orphanet,3198,Exact +GARD:0005023,UMLS,C0085292,Exact +GARD:0005023,OMIM,184850,Exact +GARD:0005023,ICD-10,G25.8,NTBT +GARD:0005023,MedDRA,10042044,Exact +GARD:0005023,SNOMED-CT,5217008,NA +GARD:0005025,Orphanet,2833,Exact +GARD:0005025,ICD-10,L98.8,NTBT +GARD:0005025,OMIM,228020,BTNT +GARD:0005025,OMIM,184900,Exact +GARD:0005025,UMLS,C1861456,Exact +GARD:0005025,SNOMED-CT,765187004,NA +GARD:0005026,Orphanet,3199,Exact +GARD:0005026,OMIM,202900,Exact +GARD:0005026,SNOMED-CT,733072002,NA +GARD:0005027,SNOMED-CT,723442008,NA +GARD:0005027,Orphanet,2972,Exact +GARD:0005027,MeSH,C536952,Exact +GARD:0005027,UMLS,C2931509,Exact +GARD:0005027,UMLS,C1848903,Exact +GARD:0005027,OMIM,273050,Exact +GARD:0005027,MeSH,C537496,Exact +GARD:0005029,Orphanet,3200,Exact +GARD:0005029,OMIM,601701,NTBT +GARD:0005029,UMLS,C1866427,Exact +GARD:0005029,SNOMED-CT,786039009,NA +GARD:0005034,Orphanet,734,Exact +GARD:0005034,ICD-10,D69.1,NTBT +GARD:0005034,OMIM,185050,Exact +GARD:0005034,ICD-11,3B62.4,Exact +GARD:0005036,SNOMED-CT,765761009,NA +GARD:0005036,Orphanet,1277,Exact +GARD:0005036,ICD-10,Q87.8,NTBT +GARD:0005040,SNOMED-CT,718174008,NA +GARD:0005040,Orphanet,1576,Exact +GARD:0005040,UMLS,C0795996,Exact +GARD:0005040,ICD-10,G23.2,NTBT +GARD:0005040,OMIM,500003,BTNT +GARD:0005040,OMIM,271930,BTNT +GARD:0005041,Orphanet,100984,Exact +GARD:0005041,OMIM,182600,Exact +GARD:0005041,UMLS,C2931355,Exact +GARD:0005041,ICD-10,G11.4,NTBT +GARD:0005041,MeSH,C536864,Exact +GARD:0005041,SNOMED-CT,782670003,NA +GARD:0005045,SNOMED-CT,254097005,NA +GARD:0005045,Orphanet,3206,Exact +GARD:0005045,UMLS,C0796176,Exact +GARD:0005045,UMLS,C0432240,Exact +GARD:0005045,ICD-10,Q78.8,NTBT +GARD:0005045,MeSH,C537502,Exact +GARD:0005045,OMIM,601559,Exact +GARD:0005049,Orphanet,102009,Exact +GARD:0005049,SNOMED-CT,253147000,NA +GARD:0005049,ICD-10,Q04.3,NTBT +GARD:0005049,UMLS,C0431375,Exact +GARD:0005049,UMLS,C1843916,Exact +GARD:0005050,Orphanet,101030,Exact +GARD:0005050,MedDRA,10071150,Exact +GARD:0005050,UMLS,C3160906,Exact +GARD:0005050,ICD-10,Q04.8,NTBT +GARD:0005051,SNOMED-CT,448476001,NA +GARD:0005051,Orphanet,3190,Exact +GARD:0005051,UMLS,C3165028,Exact +GARD:0005051,ICD-11,LA8A.6,Exact +GARD:0005051,ICD-10,Q24.3,Exact +GARD:0005053,SNOMED-CT,237989003,NA +GARD:0005053,Orphanet,3208,Exact +GARD:0005053,OMIM,252011,BTNT +GARD:0005053,ICD-10,G71.3,NTBT +GARD:0005053,UMLS,C1855008,Exact +GARD:0005053,OMIM,619166,BTNT +GARD:0005053,OMIM,619167,BTNT +GARD:0005053,OMIM,619224,BTNT +GARD:0005058,Orphanet,498602,Exact +GARD:0005058,OMIM,272150,Exact +GARD:0005061,Orphanet,585,Exact +GARD:0005061,ICD-10,E75.2,NTBT +GARD:0005061,UMLS,C1720864,Exact +GARD:0005061,OMIM,272200,Exact +GARD:0005061,UMLS,C0268263,Exact +GARD:0005061,SNOMED-CT,54898003,NA +GARD:0005062,SNOMED-CT,40873003,NA +GARD:0005062,Orphanet,99731,Exact +GARD:0005062,OMIM,272300,Exact +GARD:0005062,UMLS,C0268624,Exact +GARD:0005062,ICD-10,E72.1,NTBT +GARD:0005062,UMLS,C2931746,Exact +GARD:0005066,Orphanet,85275,Exact +GARD:0005066,UMLS,C1844948,Exact +GARD:0005066,ICD-10,Q11.2,NTBT +GARD:0005066,SNOMED-CT,717222003,NA +GARD:0005068,Orphanet,242,Exact +GARD:0005068,OMIM,300018,BTNT +GARD:0005068,UMLS,C0018054,Exact +GARD:0005068,ICD-10,Q99.1,Exact +GARD:0005068,OMIM,400044,Exact +GARD:0005068,OMIM,612965,BTNT +GARD:0005068,OMIM,233420,BTNT +GARD:0005068,OMIM,613762,BTNT +GARD:0005068,UMLS,C2936694,Exact +GARD:0005068,OMIM,154230,BTNT +GARD:0005068,OMIM,616425,BTNT +GARD:0005068,OMIM,613080,BTNT +GARD:0005068,SNOMED-CT,95218005,NA +GARD:0005070,Orphanet,1314,Exact +GARD:0005070,ICD-10,G93.8,NTBT +GARD:0005070,SNOMED-CT,719164000,NA +GARD:0005074,SNOMED-CT,205281006,NA +GARD:0005074,Orphanet,3248,Exact +GARD:0005074,UMLS,C1861401,Exact +GARD:0005074,ICD-10,Q70.9,NTBT +GARD:0005074,OMIM,185700,Exact +GARD:0005077,SNOMED-CT,732955001,NA +GARD:0005077,Orphanet,3246,Exact +GARD:0005077,OMIM,185750,Exact +GARD:0005077,ICD-10,Q74.8,NTBT +GARD:0005077,UMLS,C1861391,Exact +GARD:0005081,Orphanet,93402,Exact +GARD:0005081,ICD-10,Q70.1,ND (not yet decided/unable to decide) +GARD:0005081,ICD-10,Q70.0,ND (not yet decided/unable to decide) +GARD:0005081,ICD-10,Q70.3,ND (not yet decided/unable to decide) +GARD:0005081,OMIM,185900,Exact +GARD:0005081,ICD-10,Q70.2,ND (not yet decided/unable to decide) +GARD:0005081,UMLS,C1861380,Exact +GARD:0005081,OMIM,609815,BTNT +GARD:0005081,SNOMED-CT,715723008,NA +GARD:0005084,SNOMED-CT,720633009,NA +GARD:0005084,Orphanet,3258,Exact +GARD:0005084,UMLS,C1859309,Exact +GARD:0005084,ICD-10,Q78.4,NTBT +GARD:0005084,OMIM,212780,Exact +GARD:0005087,SNOMED-CT,715724002,NA +GARD:0005087,Orphanet,93403,Exact +GARD:0005087,MeSH,C538153,Exact +GARD:0005087,OMIM,610234,BTNT +GARD:0005087,OMIM,608180,BTNT +GARD:0005087,UMLS,C2699746,Exact +GARD:0005087,ICD-10,Q70.2,ND (not yet decided/unable to decide) +GARD:0005087,ICD-10,Q70.0,ND (not yet decided/unable to decide) +GARD:0005087,OMIM,186000,BTNT +GARD:0005088,Orphanet,93404,Exact +GARD:0005088,ICD-10,Q70.1,NTBT +GARD:0005088,OMIM,186100,Exact +GARD:0005088,SNOMED-CT,715725001,NA +GARD:0005088,UMLS,C1861366,Exact +GARD:0005088,MeSH,C538154,Exact +GARD:0005089,Orphanet,93406,Exact +GARD:0005089,OMIM,186300,Exact +GARD:0005089,MeSH,C538155,Exact +GARD:0005089,ICD-10,Q70.2,ND (not yet decided/unable to decide) +GARD:0005089,ICD-10,Q70.0,ND (not yet decided/unable to decide) +GARD:0005089,UMLS,C1861348,Exact +GARD:0005089,SNOMED-CT,719159004,NA +GARD:0005090,Orphanet,3259,Exact +GARD:0005090,OMIM,186350,Exact +GARD:0005090,UMLS,C1861347,Exact +GARD:0005090,SNOMED-CT,783700001,NA +GARD:0005091,Orphanet,3263,Exact +GARD:0005092,Orphanet,3262,Exact +GARD:0005092,SNOMED-CT,782940006,NA +GARD:0005100,SNOMED-CT,239121009,NA +GARD:0005100,Orphanet,840,Exact +GARD:0005100,MedDRA,10042926,Exact +GARD:0005100,UMLS,C0406803,Exact +GARD:0005100,ICD-10,D23.9,NTBT +GARD:0005104,Orphanet,158,Exact +GARD:0005104,OMIM,212140,Exact +GARD:0005104,UMLS,C0342788,Exact +GARD:0005104,ICD-10,E71.3,NTBT +GARD:0005104,SNOMED-CT,21764004,NA +GARD:0005116,Orphanet,3320,Exact +GARD:0005116,OMIM,274000,Exact +GARD:0005116,MedDRA,10071719,Exact +GARD:0005116,ICD-10,Q87.2,NTBT +GARD:0005116,UMLS,C0175703,Exact +GARD:0005116,SNOMED-CT,85589009,NA +GARD:0005120,SNOMED-CT,725461009,NA +GARD:0005120,Orphanet,2636,Exact +GARD:0005120,OMIM,210710,BTNT +GARD:0005120,OMIM,210730,BTNT +GARD:0005120,ICD-10,Q87.1,NTBT +GARD:0005121,Orphanet,90650,Exact +GARD:0005121,OMIM,311300,Exact +GARD:0005121,UMLS,C0265251,Exact +GARD:0005121,ICD-10,Q87.0,NTBT +GARD:0005121,SNOMED-CT,54036001,NA +GARD:0005123,Orphanet,1094,Exact +GARD:0005123,MeSH,C536948,Exact +GARD:0005123,OMIM,607214,Exact +GARD:0005123,ICD-10,Q87.8,NTBT +GARD:0005123,UMLS,C2931373,Exact +GARD:0005123,SNOMED-CT,720494009,NA +GARD:0005124,Orphanet,1974,Exact +GARD:0005124,OMIM,227330,Exact +GARD:0005124,SNOMED-CT,725434009,NA +GARD:0005124,ICD-10,Q87.8,NTBT +GARD:0005124,UMLS,C1856871,Exact +GARD:0005125,Orphanet,3291,Exact +GARD:0005125,MeSH,C536950,Exact +GARD:0005125,OMIM,272950,Exact +GARD:0005125,UMLS,C1848912,Exact +GARD:0005125,SNOMED-CT,771265006,NA +GARD:0005126,SNOMED-CT,719948009,NA +GARD:0005126,Orphanet,3368,Exact +GARD:0005126,UMLS,C1848743,Exact +GARD:0005126,ICD-10,Q87.0,NTBT +GARD:0005126,OMIM,275595,Exact +GARD:0005128,Orphanet,3292,Exact +GARD:0005128,UMLS,C1859356,Exact +GARD:0005128,SNOMED-CT,719946008,NA +GARD:0005128,OMIM,211960,Exact +GARD:0005128,ICD-10,Q74.0,NTBT +GARD:0005128,MeSH,C536953,Exact +GARD:0005133,SNOMED-CT,773984007,NA +GARD:0005133,Orphanet,2885,Exact +GARD:0005133,OMIM,172850,Exact +GARD:0005133,UMLS,C1868311,Exact +GARD:0005135,Orphanet,98819,Exact +GARD:0005135,UMLS,C1842564,Exact +GARD:0005135,ICD-10,G40.2,NTBT +GARD:0005135,OMIM,611631,BTNT +GARD:0005135,MeSH,C536956,Exact +GARD:0005135,OMIM,608096,Exact +GARD:0005135,SNOMED-CT,783739005,NA +GARD:0005138,Orphanet,137834,Exact +GARD:0005138,UMLS,C1855305,Exact +GARD:0005138,OMIM,249420,Exact +GARD:0005138,ICD-10,Q87.8,NTBT +GARD:0005138,SNOMED-CT,720958002,NA +GARD:0005140,Orphanet,180226,Exact +GARD:0005140,UMLS,C0206659,Exact +GARD:0005140,ICD-10,C22.7,BTNT +GARD:0005140,ICD-10,C71.9,BTNT +GARD:0005140,MeSH,D018236,Exact +GARD:0005140,SNOMED-CT,1156454002,NA +GARD:0005144,Orphanet,3299,Exact +GARD:0005144,MeSH,D013742,Exact +GARD:0005144,ICD-10,A34,BTNT +GARD:0005144,ICD-10,A35,BTNT +GARD:0005144,MedDRA,10043376,Exact +GARD:0005144,UMLS,C0039614,Exact +GARD:0005144,ICD-10,A33,BTNT +GARD:0005144,SNOMED-CT,76902006,NA +GARD:0005148,SNOMED-CT,702313004,NA +GARD:0005148,Orphanet,294971,Exact +GARD:0005148,ICD-10,Q73.0,NTBT +GARD:0005151,SNOMED-CT,726363000,NA +GARD:0005151,Orphanet,3305,Exact +GARD:0005151,ICD-10,Q92.7,NTBT +GARD:0005151,MeSH,D057891,Exact +GARD:0005151,ICD-11,LD42.1,Exact +GARD:0005151,UMLS,C0333694,Exact +GARD:0005153,SNOMED-CT,723332005,NA +GARD:0005153,Orphanet,3306,Exact +GARD:0005153,UMLS,C3711376,Exact +GARD:0005153,ICD-10,Q99.8,NTBT +GARD:0005158,Orphanet,1780,Exact +GARD:0005158,OMIM,227255,Exact +GARD:0005158,ICD-10,Q87.8,NTBT +GARD:0005158,UMLS,C2931219,Exact +GARD:0005158,SNOMED-CT,773281008,NA +GARD:0005170,Orphanet,3235,Exact +GARD:0005170,UMLS,C1844678,Exact +GARD:0005170,OMIM,601449,Exact +GARD:0005170,UMLS,C1832354,Exact +GARD:0005170,ICD-10,H74.3,NTBT +GARD:0005170,ICD-11,LD2H.2,Exact +GARD:0005170,SNOMED-CT,715529009,NA +GARD:0005175,SNOMED-CT,716740009,NA +GARD:0005175,Orphanet,3316,Exact +GARD:0005175,MeSH,C536514,Exact +GARD:0005175,UMLS,C2931225,Exact +GARD:0005175,ICD-10,Q87.8,NTBT +GARD:0005176,Orphanet,852,Exact +GARD:0005176,ICD-10,D69.4,NTBT +GARD:0005176,OMIM,313900,Exact +GARD:0005177,SNOMED-CT,771149000,NA +GARD:0005177,Orphanet,2031,Exact +GARD:0005177,UMLS,C2931226,Exact +GARD:0005177,OMIM,213010,Exact +GARD:0005180,Orphanet,1861,Exact +GARD:0005180,UMLS,C1848864,Exact +GARD:0005180,ICD-10,Q87.8,NTBT +GARD:0005180,OMIM,273730,Exact +GARD:0005180,SNOMED-CT,782951006,NA +GARD:0005181,Orphanet,1759,Exact +GARD:0005181,ICD-10,Q43.4,NTBT +GARD:0005181,SNOMED-CT,733628001,NA +GARD:0005184,Orphanet,3317,Exact +GARD:0005184,ICD-10,Q77.2,NTBT +GARD:0005184,OMIM,187770,Exact +GARD:0005184,OMIM,187760,BTNT +GARD:0005184,MeSH,C536517,Exact +GARD:0005184,UMLS,C1861197,Exact +GARD:0005184,SNOMED-CT,723556008,NA +GARD:0005186,Orphanet,530838,Exact +GARD:0005186,OMIM,600962,Exact +GARD:0005188,SNOMED-CT,711407000,NA +GARD:0005188,Orphanet,3204,Exact +GARD:0005188,ICD-10,D69.8,NTBT +GARD:0005188,UMLS,C1861451,Exact +GARD:0005188,OMIM,185070,Exact +GARD:0005191,OMIM,188000,Exact +GARD:0005191,UMLS,C1861185,NA +GARD:0005191,DiseaseOntology,1588,NA +GARD:0005191,GeneticAlliance,7077,NA +GARD:0005194,SNOMED-CT,13172003,NA +GARD:0005194,Orphanet,3002,Exact +GARD:0005194,MedDRA,10021245,Exact +GARD:0005194,ICD-10,D69.3,NTBT +GARD:0005194,UMLS,C0398650,Exact +GARD:0005194,MeSH,D016553,Exact +GARD:0005194,OMIM,188030,Exact +GARD:0005194,ICD-11,3B64.10,Exact +GARD:0005195,Orphanet,3324,Exact +GARD:0005195,UMLS,C2931365,Exact +GARD:0005195,MeSH,C536900,Exact +GARD:0005195,ICD-10,D68.8,NTBT +GARD:0005195,SNOMED-CT,783256001,NA +GARD:0005199,SNOMED-CT,771182002,NA +GARD:0005199,Orphanet,2251,Exact +GARD:0005199,MeSH,C536904,Exact +GARD:0005199,OMIM,188150,Exact +GARD:0005199,UMLS,C2931366,Exact +GARD:0005201,Orphanet,3398,Exact +GARD:0005201,UMLS,C1266101,Exact +GARD:0005201,MeSH,C536905,Exact +GARD:0005201,ICD-10,D15.0,NTBT +GARD:0005201,ICD-10,C37,NTBT +GARD:0005202,Orphanet,3326,Exact +GARD:0005202,OMIM,274265,Exact +GARD:0005202,UMLS,C1848812,Exact +GARD:0005202,ICD-10,Q87.8,NTBT +GARD:0005202,MeSH,C536907,Exact +GARD:0005202,SNOMED-CT,723555007,NA +GARD:0005204,Orphanet,93953,Exact +GARD:0005204,UMLS,C3495590,Exact +GARD:0005204,OMIM,188455,Exact +GARD:0005204,ICD-10,Q89.2,NTBT +GARD:0005204,SNOMED-CT,717331000,NA +GARD:0005206,OMIM,188470,Exact +GARD:0005206,UMLS,C4225426,NA +GARD:0005206,DiseaseOntology,3962,NA +GARD:0005206,GeneticAlliance,7105,NA +GARD:0005210,Orphanet,3328,Exact +GARD:0005210,MeSH,C536918,Exact +GARD:0005210,OMIM,601027,Exact +GARD:0005210,UMLS,C2931368,Exact +GARD:0005210,SNOMED-CT,733068001,NA +GARD:0005216,SNOMED-CT,712986001,NA +GARD:0005216,Orphanet,297,Exact +GARD:0005216,ICD-10,A84.0,BTNT +GARD:0005216,MedDRA,10043848,Exact +GARD:0005216,ICD-10,A84.8,BTNT +GARD:0005216,UMLS,C0014061,Exact +GARD:0005216,ICD-10,A84.1,BTNT +GARD:0005216,MeSH,D004675,Exact +GARD:0005216,ICD-10,A84.9,BTNT +GARD:0005221,SNOMED-CT,230558006,NA +GARD:0005221,Orphanet,640,Exact +GARD:0005221,MedDRA,10069382,Exact +GARD:0005221,OMIM,162500,Exact +GARD:0005221,UMLS,C0393814,Exact +GARD:0005221,ICD-10,G60.0,NTBT +GARD:0005225,Orphanet,3338,Exact +GARD:0005225,ICD-10,Q87.8,NTBT +GARD:0005225,OMIM,217980,Exact +GARD:0005225,UMLS,C0796184,Exact +GARD:0005225,SNOMED-CT,722477003,NA +GARD:0005230,Orphanet,3341,Exact +GARD:0005230,OMIM,314300,Exact +GARD:0005230,ICD-10,Q87.8,NTBT +GARD:0005230,MeSH,C536970,Exact +GARD:0005230,UMLS,C1839129,Exact +GARD:0005230,SNOMED-CT,771266007,NA +GARD:0005231,SNOMED-CT,778010006,NA +GARD:0005231,Orphanet,293165,Exact +GARD:0005231,OMIM,607655,Exact +GARD:0005231,ICD-10,Q82.8,NTBT +GARD:0005232,SNOMED-CT,715532007,NA +GARD:0005232,Orphanet,3344,Exact +GARD:0005232,UMLS,C1862172,Exact +GARD:0005232,MeSH,C537082,Exact +GARD:0005232,OMIM,112350,Exact +GARD:0005232,ICD-10,Q77.8,NTBT +GARD:0005233,SNOMED-CT,3987009,NA +GARD:0005233,Orphanet,3346,Exact +GARD:0005233,ICD-10,Q32.1,NTBT +GARD:0005233,MeSH,C536975,Exact +GARD:0005233,UMLS,C1261567,Exact +GARD:0005235,Orphanet,3348,Exact +GARD:0005235,ICD-11,CA27.0,Exact +GARD:0005235,UMLS,C0520538,Exact +GARD:0005235,UMLS,C3887588,Exact +GARD:0005235,ICD-10,J98.0,NTBT +GARD:0005235,OMIM,189961,Exact +GARD:0005235,SNOMED-CT,37615000,NA +GARD:0005237,Orphanet,293864,Exact +GARD:0005237,ICD-10,Q45.8,NTBT +GARD:0005237,SNOMED-CT,773673002,NA +GARD:0005237,UMLS,C2748662,Exact +GARD:0005237,OMIM,615710,BTNT +GARD:0005238,Orphanet,3052,Exact +GARD:0005238,OMIM,309480,Exact +GARD:0005238,ICD-10,Q87.8,NTBT +GARD:0005238,UMLS,C2931381,Exact +GARD:0005238,SNOMED-CT,719810000,NA +GARD:0005243,SNOMED-CT,715374003,NA +GARD:0005243,Orphanet,1215,Exact +GARD:0005243,OMIM,616648,BTNT +GARD:0005243,OMIM,165199,BTNT +GARD:0005243,OMIM,125250,BTNT +GARD:0005243,MeSH,C535351,Exact +GARD:0005243,UMLS,C1832466,Exact +GARD:0005243,ICD-10,H47.2,NTBT +GARD:0005250,SNOMED-CT,88264003,NA +GARD:0005250,Orphanet,863,Exact +GARD:0005250,MedDRA,10044608,Exact +GARD:0005250,MeSH,D014235,Exact +GARD:0005250,ICD-10,B75,Exact +GARD:0005250,ICD-11,1F6E,Exact +GARD:0005250,UMLS,C0040896,Exact +GARD:0005258,Orphanet,84064,Exact +GARD:0005258,OMIM,222470,Exact +GARD:0005258,UMLS,C1857276,Exact +GARD:0005258,ICD-11,DA90.0,Exact +GARD:0005258,OMIM,614602,BTNT +GARD:0005258,SNOMED-CT,703406006,NA +GARD:0005261,Orphanet,3361,Exact +GARD:0005261,OMIM,190360,Exact +GARD:0005261,UMLS,C1860822,Exact +GARD:0005261,SNOMED-CT,766812005,NA +GARD:0005263,Orphanet,864,Exact +GARD:0005263,UMLS,C0334262,Exact +GARD:0005263,MedDRA,10044611,Exact +GARD:0005263,MeSH,C536553,Exact +GARD:0005263,SNOMED-CT,274899008,NA +GARD:0005266,Orphanet,3363,Exact +GARD:0005266,UMLS,C1848745,Exact +GARD:0005266,OMIM,275400,Exact +GARD:0005266,SNOMED-CT,719944006,NA +GARD:0005267,Orphanet,3355,Exact +GARD:0005267,UMLS,C3502453,Exact +GARD:0005267,OMIM,275450,Exact +GARD:0005267,SNOMED-CT,766813000,NA +GARD:0005270,OMIM,601675,Exact +GARD:0005270,Orphanet,33364,NTBT +GARD:0005270,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/trichothiodystrophy,NA +GARD:0005270,DiseaseOntology,111873,NA +GARD:0005270,UMLS,C1866505,NA +GARD:0005270,UMLS,C1866504,NA +GARD:0005270,GeneticAlliance,7211,NA +GARD:0005271,OMIM,234050,Exact +GARD:0005271,Orphanet,33364,NTBT +GARD:0005271,UMLS,C1313961,NA +GARD:0005271,UMLS,C3495483,NA +GARD:0005271,UMLS,C4083251,NA +GARD:0005271,SNOMED-CT,403796005,NA +GARD:0005271,DiseaseOntology,50528,NA +GARD:0005271,GeneticAlliance,7210,NA +GARD:0005271,SNOMED-CT,238736006,NA +GARD:0005274,Orphanet,1209,Exact +GARD:0005274,ICD-10,Q22.4,NTBT +GARD:0005274,MedDRA,10049767,Exact +GARD:0005274,OMIM,605067,Exact +GARD:0005274,UMLS,C0243002,Exact +GARD:0005274,MeSH,D018785,Exact +GARD:0005274,ICD-11,LA89.1,Exact +GARD:0005274,SNOMED-CT,63042009,NA +GARD:0005279,Orphanet,2995,Exact +GARD:0005279,OMIM,243310,BTNT +GARD:0005279,OMIM,614583,BTNT +GARD:0005279,UMLS,C1855722,Exact +GARD:0005279,ICD-10,Q87.0,NTBT +GARD:0005279,SNOMED-CT,702410002,NA +GARD:0005286,Orphanet,3374,Exact +GARD:0005286,ICD-10,Q15.8,NTBT +GARD:0005287,SNOMED-CT,234405009,NA +GARD:0005287,Orphanet,868,Exact +GARD:0005287,UMLS,C0398562,Exact +GARD:0005287,UMLS,C1860808,Exact +GARD:0005287,ICD-10,D55.2,NTBT +GARD:0005287,OMIM,615512,Exact +GARD:0005289,SNOMED-CT,715710001,NA +GARD:0005289,Orphanet,93336,Exact +GARD:0005289,ICD-10,Q69.1,NTBT +GARD:0005289,OMIM,174500,NTBT +GARD:0005289,UMLS,C1868114,Exact +GARD:0005290,Orphanet,2947,Exact +GARD:0005290,ICD-10,Q74.8,NTBT +GARD:0005290,UMLS,C1860804,Exact +GARD:0005290,OMIM,190680,Exact +GARD:0005290,MeSH,C536564,Exact +GARD:0005290,SNOMED-CT,719951002,NA +GARD:0005295,Orphanet,3376,Exact +GARD:0005295,UMLS,C0333693,Exact +GARD:0005295,ICD-11,LD42.0,Exact +GARD:0005295,MeSH,D057885,Exact +GARD:0005295,ICD-10,Q92.7,NTBT +GARD:0005295,SNOMED-CT,66651005,NA +GARD:0005299,Orphanet,171929,Exact +GARD:0005299,UMLS,C0795837,Exact +GARD:0005299,SNOMED-CT,717157006,NA +GARD:0005299,ICD-10,Q92.2,NTBT +GARD:0005304,Orphanet,1698,Exact +GARD:0005304,ICD-10,Q92.1,NTBT +GARD:0005304,SNOMED-CT,764463001,NA +GARD:0005305,Orphanet,1699,Exact +GARD:0005305,UMLS,C0795845,Exact +GARD:0005305,ICD-10,Q92.3,NTBT +GARD:0005305,SNOMED-CT,14091009,NA +GARD:0005313,Orphanet,1706,Exact +GARD:0005313,MeSH,C538037,Exact +GARD:0005313,UMLS,C2931707,Exact +GARD:0005313,ICD-10,Q92.1,NTBT +GARD:0005313,SNOMED-CT,764619001,NA +GARD:0005317,Orphanet,1711,Exact +GARD:0005317,ICD-10,Q92.1,NTBT +GARD:0005317,UMLS,C1096168,Exact +GARD:0005317,SNOMED-CT,764622004,NA +GARD:0005318,Orphanet,261290,Exact +GARD:0005318,SNOMED-CT,717049005,NA +GARD:0005318,UMLS,C0795865,Exact +GARD:0005318,ICD-10,Q92.2,NTBT +GARD:0005323,SNOMED-CT,4199009,NA +GARD:0005323,Orphanet,1715,Exact +GARD:0005323,UMLS,C2931811,Exact +GARD:0005323,ICD-10,Q92.2,NTBT +GARD:0005323,MeSH,C538307,Exact +GARD:0005323,ICD-11,LD41.H1,Exact +GARD:0005331,Orphanet,1723,Exact +GARD:0005331,ICD-10,Q92.1,NTBT +GARD:0005331,SNOMED-CT,764623009,NA +GARD:0005333,Orphanet,261318,Exact +GARD:0005333,ICD-10,Q92.2,NTBT +GARD:0005333,SNOMED-CT,111311004,NA +GARD:0005333,UMLS,C0265480,Exact +GARD:0005333,UMLS,C2930888,Exact +GARD:0005342,Orphanet,100071,Exact +GARD:0005342,ICD-10,Q92.1,NTBT +GARD:0005342,SNOMED-CT,764627005,NA +GARD:0005354,Orphanet,1747,Exact +GARD:0005354,ICD-10,Q92.1,NTBT +GARD:0005354,MeSH,C537822,Exact +GARD:0005354,UMLS,C2931631,Exact +GARD:0005354,SNOMED-CT,764630003,NA +GARD:0005359,SNOMED-CT,717335009,NA +GARD:0005359,Orphanet,96061,Exact +GARD:0005359,UMLS,C1096527,Exact +GARD:0005359,MedDRA,10053916,Exact +GARD:0005359,ICD-10,Q92.1,NTBT +GARD:0005359,MeSH,C537940,Exact +GARD:0005362,Orphanet,1752,Exact +GARD:0005362,MeSH,C538020,Exact +GARD:0005362,UMLS,C0795829,Exact +GARD:0005362,ICD-10,Q92.2,NTBT +GARD:0005372,Orphanet,101000,Exact +GARD:0005372,OMIM,275900,Exact +GARD:0005372,ICD-10,G11.4,NTBT +GARD:0005372,UMLS,C0393559,Exact +GARD:0005372,SNOMED-CT,230264003,NA +GARD:0005388,SNOMED-CT,75387001,NA +GARD:0005388,Orphanet,3402,Exact +GARD:0005388,ICD-10,P74.5,Exact +GARD:0005388,ICD-11,5C50.1Y,NTBT +GARD:0005392,SNOMED-CT,8849004,NA +GARD:0005392,Orphanet,79238,Exact +GARD:0005392,UMLS,C0751161,Exact +GARD:0005392,OMIM,230350,Exact +GARD:0005392,ICD-10,E74.2,NTBT +GARD:0005393,SNOMED-CT,2829000,NA +GARD:0005393,Orphanet,3403,Exact +GARD:0005393,UMLS,C0265857,Exact +GARD:0005393,OMIM,107970,NTBT +GARD:0005393,MedDRA,10048951,Exact +GARD:0005393,MeSH,C536932,Exact +GARD:0005393,ICD-10,Q24.8,NTBT +GARD:0005394,SNOMED-CT,719840003,NA +GARD:0005394,Orphanet,3404,Exact +GARD:0005394,UMLS,C1849438,Exact +GARD:0005394,OMIM,266910,Exact +GARD:0005394,ICD-10,Q87.8,NTBT +GARD:0005395,Orphanet,3406,Exact +GARD:0005395,OMIM,604093,NTBT +GARD:0005398,Orphanet,2249,Exact +GARD:0005398,ICD-10,Q87.2,NTBT +GARD:0005398,OMIM,276821,Exact +GARD:0005398,UMLS,C2931370,Exact +GARD:0005398,UMLS,C1848650,Exact +GARD:0005398,MeSH,C536934,Exact +GARD:0005398,SNOMED-CT,719842006,NA +GARD:0005400,SNOMED-CT,733030003,NA +GARD:0005400,Orphanet,1122,Exact +GARD:0005400,OMIM,314360,Exact +GARD:0005400,UMLS,C1839123,Exact +GARD:0005400,ICD-10,Q73.8,NTBT +GARD:0005400,MeSH,C536936,Exact +GARD:0005403,SNOMED-CT,719844007,NA +GARD:0005403,Orphanet,3405,Exact +GARD:0005403,MeSH,C536938,Exact +GARD:0005403,UMLS,C2931371,Exact +GARD:0005404,Orphanet,1410,Exact +GARD:0005404,OMIM,191480,BTNT +GARD:0005404,UMLS,C0432347,Exact +GARD:0005404,OMIM,617252,BTNT +GARD:0005404,ICD-10,Q84.1,NTBT +GARD:0005404,MeSH,C536939,Exact +GARD:0005404,OMIM,617251,BTNT +GARD:0005404,SNOMED-CT,254230001,NA +GARD:0005408,Orphanet,97685,Exact +GARD:0005408,ICD-10,Q85.0,NTBT +GARD:0005408,UMLS,C3150928,Exact +GARD:0005408,OMIM,613675,Exact +GARD:0005409,Orphanet,96334,Exact +GARD:0005409,MeSH,C536471,Exact +GARD:0005409,UMLS,C1842466,Exact +GARD:0005409,ICD-10,Q99.8,NTBT +GARD:0005409,OMIM,608149,NTBT +GARD:0005421,Orphanet,3408,Exact +GARD:0005421,MeSH,C536472,Exact +GARD:0005421,ICD-10,M91.8,NTBT +GARD:0005421,OMIM,191520,Exact +GARD:0005421,UMLS,C1860596,Exact +GARD:0005421,SNOMED-CT,719041000,NA +GARD:0005425,Orphanet,488,Exact +GARD:0005425,MeSH,D014496,Exact +GARD:0005425,MedDRA,10065375,Exact +GARD:0005425,ICD-10,Q64.4,NTBT +GARD:0005425,UMLS,C0041915,Exact +GARD:0005425,SNOMED-CT,17234001,NA +GARD:0005426,Orphanet,3409,Exact +GARD:0005426,ICD-10,Q87.8,NTBT +GARD:0005426,UMLS,C0796189,Exact +GARD:0005426,OMIM,264010,Exact +GARD:0005426,SNOMED-CT,716334004,NA +GARD:0005427,SNOMED-CT,403442005,NA +GARD:0005427,Orphanet,1839,Exact +GARD:0005427,UMLS,C1274795,Exact +GARD:0005427,ICD-10,K13.7,NTBT +GARD:0005427,OMIM,158310,Exact +GARD:0005429,Orphanet,30,Exact +GARD:0005429,UMLS,C0220987,Exact +GARD:0005429,MedDRA,10052621,Exact +GARD:0005429,ICD-10,E79.8,NTBT +GARD:0005429,UMLS,C0268130,Exact +GARD:0005429,MeSH,C537136,Exact +GARD:0005429,ICD-11,3A03.0,Exact +GARD:0005429,OMIM,258900,Exact +GARD:0005429,SNOMED-CT,16242007,NA +GARD:0005430,Orphanet,1655,Exact +GARD:0005430,OMIM,235255,Exact +GARD:0005430,SNOMED-CT,721970009,NA +GARD:0005435,SNOMED-CT,232057003,NA +GARD:0005435,Orphanet,231169,Exact +GARD:0005435,OMIM,602097,BTNT +GARD:0005435,ICD-10,H35.5,NTBT +GARD:0005435,OMIM,276900,BTNT +GARD:0005435,OMIM,618632,BTNT +GARD:0005435,OMIM,606943,BTNT +GARD:0005435,OMIM,602083,BTNT +GARD:0005435,OMIM,276904,BTNT +GARD:0005435,OMIM,601067,BTNT +GARD:0005435,OMIM,614990,BTNT +GARD:0005435,OMIM,612632,BTNT +GARD:0005435,OMIM,614869,BTNT +GARD:0005435,UMLS,C0339533,Exact +GARD:0005436,OMIM,276900,Exact +GARD:0005436,UMLS,C1848639,NA +GARD:0005436,UMLS,C1848638,NA +GARD:0005436,UMLS,C1568247,NA +GARD:0005436,SNOMED-CT,232057003,NA +GARD:0005436,GeneticAlliance,"73,177,318",NA +GARD:0005436,DiseaseOntology,110826,NA +GARD:0005437,OMIM,276904,Exact +GARD:0005437,DiseaseOntology,110830,NA +GARD:0005437,UMLS,C1848604,NA +GARD:0005437,GeneticAlliance,7319,NA +GARD:0005438,OMIM,601067,Exact +GARD:0005438,GeneticAlliance,7320,NA +GARD:0005438,DiseaseOntology,110831,NA +GARD:0005438,UMLS,C1832845,NA +GARD:0005439,OMIM,602097,Exact +GARD:0005439,GeneticAlliance,7321,NA +GARD:0005439,DiseaseOntology,110833,NA +GARD:0005439,UMLS,C1865865,NA +GARD:0005440,Orphanet,231178,Exact +GARD:0005440,OMIM,605472,BTNT +GARD:0005440,UMLS,C0339534,Exact +GARD:0005440,OMIM,276901,BTNT +GARD:0005440,UMLS,C1568249,Exact +GARD:0005440,OMIM,611383,BTNT +GARD:0005440,ICD-10,H35.5,NTBT +GARD:0005440,SNOMED-CT,232058008,NA +GARD:0005442,Orphanet,231183,Exact +GARD:0005442,ICD-10,H35.5,NTBT +GARD:0005442,UMLS,C1568248,Exact +GARD:0005442,OMIM,500004,BTNT +GARD:0005442,OMIM,276902,BTNT +GARD:0005442,OMIM,614504,BTNT +GARD:0005443,Orphanet,887,Exact +GARD:0005443,MeSH,C536495,Exact +GARD:0005443,UMLS,C0220708,Exact +GARD:0005443,UMLS,C1735591,Exact +GARD:0005443,MedDRA,10066022,Exact +GARD:0005443,ICD-11,LD2F.11,Exact +GARD:0005443,MeSH,C536534,Exact +GARD:0005443,MedDRA,10053665,Exact +GARD:0005443,ICD-10,Q87.2,NTBT +GARD:0005443,OMIM,192350,Exact +GARD:0005443,SNOMED-CT,27742002,NA +GARD:0005445,SNOMED-CT,8793008,NA +GARD:0005445,Orphanet,3109,Exact +GARD:0005445,MedDRA,10065148,Exact +GARD:0005445,OMIM,277000,BTNT +GARD:0005445,ICD-10,Q51.8,NTBT +GARD:0005445,OMIM,601076,BTNT +GARD:0005445,UMLS,C1698581,Exact +GARD:0005447,SNOMED-CT,17231009,NA +GARD:0005447,Orphanet,1906,Exact +GARD:0005447,MedDRA,10016524,Exact +GARD:0005447,OMIM,609442,Exact +GARD:0005447,UMLS,C0236026,Exact +GARD:0005447,ICD-10,Q86.8,NTBT +GARD:0005447,MeSH,C536525,Exact +GARD:0005453,Orphanet,3417,Exact +GARD:0005453,OMIM,314500,Exact +GARD:0005453,UMLS,C0796192,Exact +GARD:0005453,SNOMED-CT,733110004,NA +GARD:0005456,Orphanet,314679,Exact +GARD:0005456,OMIM,615546,BTNT +GARD:0005456,UMLS,C1832390,Exact +GARD:0005456,OMIM,601390,Exact +GARD:0005456,SNOMED-CT,763353000,NA +GARD:0005461,Orphanet,48,Exact +GARD:0005461,OMIM,277180,BTNT +GARD:0005461,MedDRA,10010670,Exact +GARD:0005461,MeSH,C535984,Exact +GARD:0005461,OMIM,300985,BTNT +GARD:0005461,ICD-10,Q55.4,NTBT +GARD:0005461,UMLS,C0403814,Exact +GARD:0005461,ICD-11,LB57,NTBT +GARD:0005461,SNOMED-CT,275416002,NA +GARD:0005467,SNOMED-CT,253194008,NA +GARD:0005467,Orphanet,1053,Exact +GARD:0005467,ICD-11,LA90.20,Exact +GARD:0005467,MeSH,C536535,Exact +GARD:0005467,ICD-10,Q28.2,NTBT +GARD:0005467,UMLS,C0431420,Exact +GARD:0005467,OMIM,618196,BTNT +GARD:0005469,Orphanet,3424,Exact +GARD:0005469,ICD-10,Q87.0,NTBT +GARD:0005469,UMLS,C1833380,Exact +GARD:0005469,OMIM,600736,Exact +GARD:0005469,SNOMED-CT,763616002,NA +GARD:0005470,SNOMED-CT,427791009,NA +GARD:0005470,Orphanet,2291,Exact +GARD:0005470,ICD-10,J39.2,NTBT +GARD:0005470,ICD-11,LA50,Exact +GARD:0005470,OMIM,167500,Exact +GARD:0005470,UMLS,C1997202,Exact +GARD:0005472,Orphanet,3201,Exact +GARD:0005472,OMIM,192445,Exact +GARD:0005472,ICD-10,Q87.8,NTBT +GARD:0005472,UMLS,C1860471,Exact +GARD:0005472,UMLS,C2931232,Exact +GARD:0005472,SNOMED-CT,719823007,NA +GARD:0005476,Orphanet,860,Exact +GARD:0005476,OMIM,608808,BTNT +GARD:0005476,ICD-10,Q20.3,NTBT +GARD:0005476,OMIM,613854,BTNT +GARD:0005476,SNOMED-CT,26146002,NA +GARD:0005478,SNOMED-CT,716195006,NA +GARD:0005478,Orphanet,2899,Exact +GARD:0005478,UMLS,C1832594,Exact +GARD:0005478,OMIM,601216,Exact +GARD:0005478,ICD-10,Q76.3,NTBT +GARD:0005481,SNOMED-CT,724140002,NA +GARD:0005481,Orphanet,2551,Exact +GARD:0005481,UMLS,C1834880,Exact +GARD:0005481,ICD-10,Q87.5,NTBT +GARD:0005481,OMIM,157151,Exact +GARD:0005482,SNOMED-CT,764697003,NA +GARD:0005482,Orphanet,3429,Exact +GARD:0005482,UMLS,C1859082,Exact +GARD:0005482,MeSH,C536541,Exact +GARD:0005482,ICD-10,Q87.8,NTBT +GARD:0005482,OMIM,215850,Exact +GARD:0005484,SNOMED-CT,399995006,NA +GARD:0005484,Orphanet,79466,Exact +GARD:0005484,UMLS,C0473574,Exact +GARD:0005484,ICD-10,Q82.5,NTBT +GARD:0005485,Orphanet,79468,Exact +GARD:0005485,ICD-10,Q82.5,NTBT +GARD:0005488,SNOMED-CT,205082007,NA +GARD:0005488,Orphanet,178382,Exact +GARD:0005488,MedDRA,10066242,Exact +GARD:0005488,OMIM,192950,Exact +GARD:0005488,ICD-11,LB98.4,Exact +GARD:0005488,ICD-10,Q66.8,NTBT +GARD:0005488,UMLS,C0240912,Exact +GARD:0005490,Orphanet,3433,Exact +GARD:0005490,UMLS,C2931177,Exact +GARD:0005490,ICD-10,Q87.8,NTBT +GARD:0005490,SNOMED-CT,719378009,NA +GARD:0005494,Orphanet,341,Exact +GARD:0005494,UMLS,C0282687,Exact +GARD:0005494,UMLS,C0019104,Exact +GARD:0005494,SNOMED-CT,240523007,NA +GARD:0005495,Orphanet,99916,Exact +GARD:0005495,ICD-10,C56,NTBT +GARD:0005495,UMLS,C0003810,Exact +GARD:0005495,UMLS,C0036769,Exact +GARD:0005495,UMLS,C0206723,Exact +GARD:0005496,Orphanet,1876,Exact +GARD:0005496,ICD-10,G71.0,NTBT +GARD:0005496,UMLS,C1848586,Exact +GARD:0005496,SNOMED-CT,722060007,NA +GARD:0005496,MeSH,C536350,Exact +GARD:0005496,OMIM,277320,Exact +GARD:0005500,Orphanet,79310,Exact +GARD:0005500,MeSH,C537360,Exact +GARD:0005500,ICD-10,E71.1,NTBT +GARD:0005500,OMIM,251100,Exact +GARD:0005507,Orphanet,3086,Exact +GARD:0005507,UMLS,C3888099,Exact +GARD:0005507,ICD-10,H35.5,NTBT +GARD:0005507,OMIM,193220,Exact +GARD:0005507,MeSH,C536352,Exact +GARD:0005507,SNOMED-CT,711162004,NA +GARD:0005508,SNOMED-CT,237997005,NA +GARD:0005508,Orphanet,26793,Exact +GARD:0005508,ICD-10,E71.3,NTBT +GARD:0005508,UMLS,C3887523,Exact +GARD:0005508,OMIM,201475,Exact +GARD:0005509,Orphanet,2808,Exact +GARD:0005509,ICD-10,J38.0,NTBT +GARD:0005509,OMIM,150260,Exact +GARD:0005509,UMLS,C0396059,Exact +GARD:0005509,SNOMED-CT,232442001,NA +GARD:0005513,Orphanet,2578,Exact +GARD:0005513,UMLS,C1832817,Exact +GARD:0005513,ICD-10,Q87.8,NTBT +GARD:0005513,OMIM,601076,Exact +GARD:0005518,Orphanet,2180,Exact +GARD:0005518,OMIM,600991,Exact +GARD:0005518,UMLS,C2931197,Exact +GARD:0005518,ICD-10,Q87.8,NTBT +GARD:0005518,SNOMED-CT,721229003,NA +GARD:0005519,Orphanet,894,Exact +GARD:0005519,ICD-10,E70.3,NTBT +GARD:0005519,OMIM,193500,Exact +GARD:0005519,UMLS,C1847800,Exact +GARD:0005520,Orphanet,895,Exact +GARD:0005520,UMLS,C2700265,Exact +GARD:0005520,OMIM,608890,BTNT +GARD:0005520,ICD-10,E70.3,NTBT +GARD:0005520,MeSH,C536463,Exact +GARD:0005520,OMIM,600193,BTNT +GARD:0005520,OMIM,193510,Exact +GARD:0005520,OMIM,606662,BTNT +GARD:0005520,OMIM,611584,BTNT +GARD:0005522,OMIM,600193,Exact +GARD:0005522,DiseaseOntology,110947,NA +GARD:0005522,UMLS,C1838447,NA +GARD:0005522,GeneticAlliance,7427,NA +GARD:0005523,Orphanet,896,Exact +GARD:0005523,UMLS,C0599973,Exact +GARD:0005523,UMLS,C0079661,Exact +GARD:0005523,ICD-10,E70.3,NTBT +GARD:0005523,OMIM,148820,Exact +GARD:0005524,SNOMED-CT,715952000,NA +GARD:0005524,Orphanet,897,Exact +GARD:0005524,ICD-10,Q87.8,NTBT +GARD:0005524,OMIM,613266,BTNT +GARD:0005524,UMLS,C1848519,Exact +GARD:0005524,UMLS,C3266898,Exact +GARD:0005524,ICD-11,LD2H.3,Exact +GARD:0005524,OMIM,613265,BTNT +GARD:0005524,OMIM,277580,BTNT +GARD:0005525,Orphanet,3440,Exact +GARD:0005525,OMIM,606662,BTNT +GARD:0005525,MedDRA,10069203,Exact +GARD:0005525,OMIM,193500,BTNT +GARD:0005525,OMIM,608890,BTNT +GARD:0005525,OMIM,193510,BTNT +GARD:0005525,OMIM,600193,BTNT +GARD:0005525,OMIM,148820,BTNT +GARD:0005525,UMLS,C0043008,Exact +GARD:0005525,SNOMED-CT,47434006,NA +GARD:0005525,UMLS,C3266898,Exact +GARD:0005525,MeSH,D014849,Exact +GARD:0005525,OMIM,611584,BTNT +GARD:0005525,ICD-10,E70.3,NTBT +GARD:0005528,Orphanet,893,Exact +GARD:0005528,MeSH,D017624,Exact +GARD:0005528,MeSH,C538295,Exact +GARD:0005528,OMIM,612469,BTNT +GARD:0005528,UMLS,C0206115,Exact +GARD:0005528,ICD-10,C64,NTBT +GARD:0005528,UMLS,C2931803,Exact +GARD:0005528,OMIM,194072,Exact +GARD:0005528,SNOMED-CT,715215007,NA +GARD:0005530,Orphanet,1068,Exact +GARD:0005530,UMLS,C2931243,Exact +GARD:0005530,ICD-10,Q13.1,NTBT +GARD:0005530,MeSH,C536568,Exact +GARD:0005530,SNOMED-CT,720468000,NA +GARD:0005532,SNOMED-CT,719471002,NA +GARD:0005532,Orphanet,1453,Exact +GARD:0005532,UMLS,C1861515,Exact +GARD:0005532,OMIM,119650,Exact +GARD:0005532,ICD-10,Q77.8,NTBT +GARD:0005534,Orphanet,2510,Exact +GARD:0005534,OMIM,615663,BTNT +GARD:0005534,OMIM,614222,BTNT +GARD:0005534,UMLS,C1838625,Exact +GARD:0005534,OMIM,600118,Exact +GARD:0005534,ICD-10,Q87.0,NTBT +GARD:0005534,OMIM,614225,BTNT +GARD:0005534,SNOMED-CT,772224009,NA +GARD:0005535,SNOMED-CT,721084001,NA +GARD:0005535,Orphanet,3214,Exact +GARD:0005535,UMLS,C1866425,Exact +GARD:0005535,OMIM,601706,Exact +GARD:0005535,MeSH,C536771,Exact +GARD:0005538,Orphanet,1541,Exact +GARD:0005538,SNOMED-CT,720817008,NA +GARD:0005538,ICD-10,Q75.8,NTBT +GARD:0005538,OMIM,604757,Exact +GARD:0005538,UMLS,C2931287,Exact +GARD:0005539,Orphanet,1827,Exact +GARD:0005539,ICD-10,Q75.8,NTBT +GARD:0005539,OMIM,603671,Exact +GARD:0005539,MeSH,C535657,Exact +GARD:0005539,UMLS,C0796182,Exact +GARD:0005539,SNOMED-CT,715427008,NA +GARD:0005545,SNOMED-CT,726670008,NA +GARD:0005545,Orphanet,3448,Exact +GARD:0005545,ICD-10,Q87.8,NTBT +GARD:0005552,Orphanet,603,Exact +GARD:0005552,SNOMED-CT,726107008,NA +GARD:0005552,OMIM,604454,Exact +GARD:0005552,UMLS,C2931290,Exact +GARD:0005552,ICD-10,G71.0,NTBT +GARD:0005552,UMLS,C0221054,Exact +GARD:0005552,MeSH,C536690,Exact +GARD:0005554,Orphanet,1373,Exact +GARD:0005554,UMLS,C1861835,Exact +GARD:0005554,SNOMED-CT,715988005,NA +GARD:0005554,OMIM,115645,Exact +GARD:0005554,ICD-10,Q87.8,NTBT +GARD:0005555,Orphanet,2815,Exact +GARD:0005555,UMLS,C2931291,Exact +GARD:0005555,OMIM,312910,Exact +GARD:0005555,ICD-10,G11.4,NTBT +GARD:0005555,SNOMED-CT,715504003,NA +GARD:0005560,Orphanet,3207,Exact +GARD:0005560,UMLS,C2931292,Exact +GARD:0005560,SNOMED-CT,783703004,NA +GARD:0005562,Orphanet,2779,Exact +GARD:0005562,ICD-10,Q77.8,NTBT +GARD:0005562,UMLS,C2931096,Exact +GARD:0005562,OMIM,311280,Exact +GARD:0005562,SNOMED-CT,787408008,NA +GARD:0005565,Orphanet,319182,Exact +GARD:0005565,OMIM,605130,Exact +GARD:0005565,ICD-10,Q87.1,NTBT +GARD:0005565,UMLS,C1854630,Exact +GARD:0005565,SNOMED-CT,763618001,NA +GARD:0005569,SNOMED-CT,79665007,NA +GARD:0005569,Orphanet,3456,Exact +GARD:0005569,UMLS,C0265239,Exact +GARD:0005569,OMIM,314600,Exact +GARD:0005569,ICD-10,Q87.8,NTBT +GARD:0005569,MedDRA,10069402,Exact +GARD:0005569,MeSH,C536706,Exact +GARD:0005573,SNOMED-CT,234451005,NA +GARD:0005573,Orphanet,99147,Exact +GARD:0005573,ICD-10,D68.4,NTBT +GARD:0005573,MedDRA,10069495,Exact +GARD:0005573,UMLS,C0272362,Exact +GARD:0005575,Orphanet,739,Exact +GARD:0005575,ICD-10,Q87.1,NTBT +GARD:0005575,OMIM,615547,BTNT +GARD:0005575,MedDRA,10036476,Exact +GARD:0005575,OMIM,176270,Exact +GARD:0005575,UMLS,C0032897,Exact +GARD:0005575,ICD-11,LD90.3,Exact +GARD:0005575,MeSH,D011218,Exact +GARD:0005575,SNOMED-CT,89392001,NA +GARD:0005576,Orphanet,220,Exact +GARD:0005576,MeSH,D030321,Exact +GARD:0005576,OMIM,194080,Exact +GARD:0005576,UMLS,C0950121,Exact +GARD:0005576,MedDRA,10070179,Exact +GARD:0005576,ICD-10,N04.1,NTBT +GARD:0005576,SNOMED-CT,236385009,NA +GARD:0005579,SNOMED-CT,719834005,NA +GARD:0005579,Orphanet,3459,Exact +GARD:0005579,OMIM,309585,Exact +GARD:0005579,UMLS,C1839736,Exact +GARD:0005584,SNOMED-CT,720819006,NA +GARD:0005584,Orphanet,1553,Exact +GARD:0005584,ICD-10,Q87.0,NTBT +GARD:0005584,OMIM,601707,Exact +GARD:0005587,Orphanet,2228,Exact +GARD:0005587,ICD-10,Q82.4,NTBT +GARD:0005587,OMIM,189500,Exact +GARD:0005587,UMLS,C0406716,Exact +GARD:0005587,UMLS,C0406735,Exact +GARD:0005587,SNOMED-CT,239021007,NA +GARD:0005589,Orphanet,1667,Exact +GARD:0005589,OMIM,226980,Exact +GARD:0005589,ICD-10,E13,NTBT +GARD:0005589,UMLS,C0432217,Exact +GARD:0005589,MeSH,C536739,Exact +GARD:0005589,SNOMED-CT,254066006,NA +GARD:0005592,SNOMED-CT,237616002,NA +GARD:0005592,Orphanet,3464,Exact +GARD:0005592,ICD-10,Q87.5,NTBT +GARD:0005592,OMIM,241080,Exact +GARD:0005592,UMLS,C0342286,Exact +GARD:0005592,MeSH,C536742,Exact +GARD:0005593,OMIM,600546,Exact +GARD:0005593,UMLS,C2931307,NA +GARD:0005593,GeneticAlliance,3859,NA +GARD:0005595,Orphanet,65282,Exact +GARD:0005595,OMIM,605676,Exact +GARD:0005595,SNOMED-CT,719835006,NA +GARD:0005595,UMLS,C1854063,Exact +GARD:0005595,OMIM,615821,BTNT +GARD:0005595,ICD-10,I42.0,NTBT +GARD:0005597,Orphanet,170,Exact +GARD:0005597,OMIM,616760,BTNT +GARD:0005597,MeSH,C536745,Exact +GARD:0005597,OMIM,615896,BTNT +GARD:0005597,UMLS,C0345427,Exact +GARD:0005597,MedDRA,10048017,Exact +GARD:0005597,UMLS,C0343073,Exact +GARD:0005597,OMIM,194300,Exact +GARD:0005597,ICD-10,Q84.1,NTBT +GARD:0005597,OMIM,278150,BTNT +GARD:0005597,OMIM,604379,BTNT +GARD:0005597,SNOMED-CT,254231002,NA +GARD:0005598,Orphanet,3465,Exact +GARD:0005598,MeSH,C536747,Exact +GARD:0005598,SNOMED-CT,716335003,NA +GARD:0005598,UMLS,C0796204,Exact +GARD:0005598,OMIM,185480,Exact +GARD:0005598,ICD-10,G80.8,NTBT +GARD:0005598,ICD-11,8D23,Exact +GARD:0005611,Orphanet,3078,Exact +GARD:0005611,UMLS,C0795965,Exact +GARD:0005611,SNOMED-CT,722213009,NA +GARD:0005611,OMIM,309555,Exact +GARD:0005611,ICD-10,F72.9,NTBT +GARD:0005613,OMIM,300387,Exact +GARD:0005613,UMLS,C1845672,NA +GARD:0005613,DiseaseOntology,112050,NA +GARD:0005613,GeneticAlliance,9503,NA +GARD:0005614,OMIM,300419,Exact +GARD:0005614,DiseaseOntology,112021,NA +GARD:0005614,GeneticAlliance,9516,NA +GARD:0005614,UMLS,C0796244,NA +GARD:0005615,SNOMED-CT,702416008,NA +GARD:0005615,Orphanet,3063,Exact +GARD:0005615,OMIM,309583,Exact +GARD:0005615,ICD-10,Q87.8,NTBT +GARD:0005615,UMLS,C0796160,Exact +GARD:0005617,Orphanet,59,Exact +GARD:0005617,UMLS,C0795889,Exact +GARD:0005617,ICD-10,G31.8,NTBT +GARD:0005617,MeSH,C537047,Exact +GARD:0005617,OMIM,300523,Exact +GARD:0005617,SNOMED-CT,702327009,NA +GARD:0005618,Orphanet,276,Exact +GARD:0005618,OMIM,300400,Exact +GARD:0005618,ICD-10,D81.2,NTBT +GARD:0005618,UMLS,C2931540,Exact +GARD:0005618,SNOMED-CT,765145001,NA +GARD:0005620,Orphanet,93602,Exact +GARD:0005620,ICD-10,E79.8,NTBT +GARD:0005620,OMIM,603592,Exact +GARD:0005620,UMLS,C1863688,Exact +GARD:0005621,Orphanet,93601,Exact +GARD:0005621,OMIM,278300,Exact +GARD:0005621,UMLS,C0268118,Exact +GARD:0005621,ICD-10,E79.8,NTBT +GARD:0005622,SNOMED-CT,63246000,NA +GARD:0005622,Orphanet,909,Exact +GARD:0005622,OMIM,213700,Exact +GARD:0005622,MeSH,D019294,Exact +GARD:0005622,ICD-10,E75.5,NTBT +GARD:0005622,UMLS,C0238052,Exact +GARD:0005623,Orphanet,3202,Exact +GARD:0005623,ICD-10,D58.8,NTBT +GARD:0005623,OMIM,194380,BTNT +GARD:0005623,UMLS,C0272051,Exact +GARD:0005623,OMIM,616689,BTNT +GARD:0005623,SNOMED-CT,715526002,NA +GARD:0005624,OMIM,278700,Exact +GARD:0005624,SNOMED-CT,43477006,NA +GARD:0005624,UMLS,C0268135,NA +GARD:0005624,GeneticAlliance,7566,NA +GARD:0005624,DiseaseOntology,110843,NA +GARD:0005625,OMIM,610651,Exact +GARD:0005625,UMLS,C0268136,NA +GARD:0005625,SNOMED-CT,1073003,NA +GARD:0005625,DiseaseOntology,110850,NA +GARD:0005625,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum,NA +GARD:0005625,GeneticAlliance,9520,NA +GARD:0005626,OMIM,278720,Exact +GARD:0005626,SNOMED-CT,25784009,NA +GARD:0005626,DiseaseOntology,110844,NA +GARD:0005626,GeneticAlliance,9521,NA +GARD:0005626,UMLS,C2752147,NA +GARD:0005627,OMIM,278740,Exact +GARD:0005627,GeneticAlliance,9523,NA +GARD:0005627,SNOMED-CT,56048001,NA +GARD:0005627,DiseaseOntology,110846,NA +GARD:0005627,UMLS,C1848411,NA +GARD:0005628,OMIM,278760,Exact +GARD:0005628,SNOMED-CT,42530008,NA +GARD:0005628,GeneticAlliance,9524,NA +GARD:0005628,DiseaseOntology,110848,NA +GARD:0005628,UMLS,C3806565,NA +GARD:0005628,UMLS,C0268140,NA +GARD:0005629,OMIM,278780,Exact +GARD:0005629,SNOMED-CT,36454001,NA +GARD:0005629,UMLS,C0268141,NA +GARD:0005629,UMLS,C1968561,NA +GARD:0005629,GeneticAlliance,7565,NA +GARD:0005629,DiseaseOntology,110849,NA +GARD:0005630,SNOMED-CT,88877002,NA +GARD:0005630,Orphanet,90342,Exact +GARD:0005630,UMLS,C1848410,Exact +GARD:0005630,MeSH,C536766,Exact +GARD:0005630,UMLS,C0432328,Exact +GARD:0005630,OMIM,278750,Exact +GARD:0005630,ICD-10,Q82.1,NTBT +GARD:0005642,SNOMED-CT,718576001,NA +GARD:0005642,Orphanet,916,Exact +GARD:0005642,OMIM,147800,Exact +GARD:0005642,ICD-10,Q87.8,NTBT +GARD:0005642,MedDRA,10063429,Exact +GARD:0005642,UMLS,C0220686,Exact +GARD:0005642,MeSH,C535332,Exact +GARD:0005643,Orphanet,101,Exact +GARD:0005643,ICD-10,G11.8,NTBT +GARD:0005643,OMIM,125370,Exact +GARD:0005643,UMLS,C0751781,Exact +GARD:0005643,SNOMED-CT,68116008,NA +GARD:0005644,OMIM,601154,Exact +GARD:0005644,GeneticAlliance,8247,NA +GARD:0005644,UMLS,C1832680,NA +GARD:0005644,DiseaseOntology,110433,NA +GARD:0005648,Orphanet,166409,Exact +GARD:0005648,OMIM,609572,BTNT +GARD:0005648,ICD-10,G40.5,NTBT +GARD:0005648,OMIM,132100,Exact +GARD:0005648,UMLS,C0393720,Exact +GARD:0005648,OMIM,609573,BTNT +GARD:0005648,SNOMED-CT,95208000,NA +GARD:0005653,SNOMED-CT,1157061002,NA +GARD:0005653,Orphanet,251576,Exact +GARD:0005653,UMLS,C0206726,Exact +GARD:0005653,MedDRA,10018340,Exact +GARD:0005653,ICD-10,C71.9,NTBT +GARD:0005654,SNOMED-CT,404056007,NA +GARD:0005654,Orphanet,163699,Exact +GARD:0005654,MedDRA,10001882,Exact +GARD:0005654,MeSH,D018234,Exact +GARD:0005654,OMIM,606243,Exact +GARD:0005654,UMLS,C0206657,Exact +GARD:0005654,ICD-10,C49.9,NTBT +GARD:0005657,Orphanet,42642,Exact +GARD:0005657,SNOMED-CT,717231003,NA +GARD:0005657,ICD-10,E85.0,NTBT +GARD:0005657,UMLS,C2938935,Exact +GARD:0005658,SNOMED-CT,124214007,NA +GARD:0005658,Orphanet,90795,Exact +GARD:0005658,ICD-10,E25.0,NTBT +GARD:0005658,MeSH,C535978,Exact +GARD:0005658,OMIM,202010,Exact +GARD:0005658,MedDRA,10000002,Exact +GARD:0005658,UMLS,C0268292,Exact +GARD:0005659,Orphanet,752,Exact +GARD:0005659,ICD-10,E29.1,NTBT +GARD:0005659,OMIM,264300,Exact +GARD:0005659,UMLS,C0268296,Exact +GARD:0005659,SNOMED-CT,50658006,NA +GARD:0005661,Orphanet,79315,Exact +GARD:0005661,OMIM,613657,BTNT +GARD:0005661,ICD-10,E72.8,NTBT +GARD:0005661,OMIM,600721,Exact +GARD:0005661,SNOMED-CT,237960000,NA +GARD:0005662,SNOMED-CT,237957007,NA +GARD:0005662,Orphanet,939,Exact +GARD:0005662,OMIM,236795,Exact +GARD:0005662,UMLS,C0342737,Exact +GARD:0005662,MeSH,C535312,Exact +GARD:0005662,ICD-10,E71.1,NTBT +GARD:0005663,Orphanet,67047,Exact +GARD:0005663,OMIM,258501,Exact +GARD:0005663,ICD-10,E71.1,NTBT +GARD:0005663,MeSH,C535311,Exact +GARD:0005663,UMLS,C0574084,Exact +GARD:0005663,SNOMED-CT,297232009,NA +GARD:0005665,OMIM,210200,Exact +GARD:0005665,Orphanet,6,NTBT +GARD:0005665,DiseaseOntology,80579,NA +GARD:0005665,UMLS,C0268600,NA +GARD:0005665,SNOMED-CT,13144005,NA +GARD:0005666,SNOMED-CT,718556007,NA +GARD:0005666,Orphanet,7,Exact +GARD:0005666,UMLS,C0796137,Exact +GARD:0005666,ICD-10,Q87.8,NTBT +GARD:0005666,OMIM,619135,BTNT +GARD:0005666,OMIM,220210,BTNT +GARD:0005666,OMIM,300963,BTNT +GARD:0005666,MeSH,C535313,Exact +GARD:0005667,SNOMED-CT,702342007,NA +GARD:0005667,Orphanet,2616,Exact +GARD:0005667,UMLS,C2678312,Exact +GARD:0005667,ICD-10,Q87.1,NTBT +GARD:0005667,OMIM,612921,BTNT +GARD:0005667,OMIM,614205,BTNT +GARD:0005667,OMIM,273750,Exact +GARD:0005667,UMLS,C1848862,Exact +GARD:0005667,UMLS,C1851996,Exact +GARD:0005668,SNOMED-CT,414380008,NA +GARD:0005668,Orphanet,2118,Exact +GARD:0005668,OMIM,140350,Exact +GARD:0005668,MeSH,C535845,Exact +GARD:0005668,ICD-10,E70.2,NTBT +GARD:0005668,UMLS,C2931042,Exact +GARD:0005671,SNOMED-CT,95198001,NA +GARD:0005671,Orphanet,243,Exact +GARD:0005671,OMIM,618723,BTNT +GARD:0005671,UMLS,C0949595,Exact +GARD:0005671,UMLS,C0685837,Exact +GARD:0005671,OMIM,618117,BTNT +GARD:0005671,MeSH,D023961,Exact +GARD:0005671,OMIM,614324,BTNT +GARD:0005671,ICD-11,LB45.1,Exact +GARD:0005671,OMIM,233300,Exact +GARD:0005671,ICD-10,Q99.1,Exact +GARD:0005671,OMIM,618078,BTNT +GARD:0005671,OMIM,300510,BTNT +GARD:0005672,SNOMED-CT,35111009,NA +GARD:0005672,Orphanet,3375,Exact +GARD:0005672,UMLS,C0221033,Exact +GARD:0005672,ICD-10,Q97.0,Exact +GARD:0005672,MeSH,D014314,Exact +GARD:0005672,ICD-11,LD50.1,Exact +GARD:0005674,Orphanet,8,Exact +GARD:0005674,MedDRA,10056894,Exact +GARD:0005674,MeSH,D014997,Exact +GARD:0005674,ICD-10,Q98.5,Exact +GARD:0005674,UMLS,C0043379,Exact +GARD:0005674,UMLS,C3266843,Exact +GARD:0005674,MeSH,C535317,Exact +GARD:0005674,ICD-11,LD52.1,NTBT +GARD:0005674,SNOMED-CT,50749006,NA +GARD:0005676,Orphanet,96263,Exact +GARD:0005676,ICD-10,Q98.1,NTBT +GARD:0005676,MedDRA,10048228,Exact +GARD:0005676,UMLS,C0265498,Exact +GARD:0005676,SNOMED-CT,78317008,NA +GARD:0005677,Orphanet,10,Exact +GARD:0005677,UMLS,C2936741,Exact +GARD:0005677,ICD-10,Q98.8,NTBT +GARD:0005677,MeSH,D007713,Exact +GARD:0005677,SNOMED-CT,403760006,NA +GARD:0005677,MedDRA,10048230,Exact +GARD:0005678,SNOMED-CT,43248007,NA +GARD:0005678,Orphanet,11,Exact +GARD:0005678,MeSH,C535319,Exact +GARD:0005678,UMLS,C0265497,Exact +GARD:0005678,UMLS,C2937419,Exact +GARD:0005678,ICD-10,Q97.1,NTBT +GARD:0005679,SNOMED-CT,38847009,NA +GARD:0005679,Orphanet,96264,Exact +GARD:0005679,ICD-10,Q98.1,NTBT +GARD:0005679,UMLS,C0265499,Exact +GARD:0005680,SNOMED-CT,57514000,NA +GARD:0005680,Orphanet,753,Exact +GARD:0005680,MedDRA,10000029,Exact +GARD:0005680,UMLS,C3669122,Exact +GARD:0005680,UMLS,C0268297,Exact +GARD:0005680,OMIM,264600,Exact +GARD:0005680,ICD-10,E29.1,NTBT +GARD:0005681,Orphanet,33572,Exact +GARD:0005681,ICD-10,E72.8,NTBT +GARD:0005681,OMIM,260005,Exact +GARD:0005681,UMLS,C0268525,Exact +GARD:0005681,MeSH,C535322,Exact +GARD:0005681,SNOMED-CT,26132002,NA +GARD:0005682,Orphanet,13,Exact +GARD:0005682,MeSH,C535325,Exact +GARD:0005682,ICD-10,E70.1,NTBT +GARD:0005682,UMLS,C0878676,Exact +GARD:0005682,OMIM,261640,Exact +GARD:0005683,Orphanet,818,Exact +GARD:0005683,UMLS,C0175694,Exact +GARD:0005683,UMLS,C2713347,Exact +GARD:0005683,MeSH,D019082,Exact +GARD:0005683,OMIM,270400,Exact +GARD:0005683,ICD-10,Q87.1,NTBT +GARD:0005683,SNOMED-CT,43929004,NA +GARD:0005686,SNOMED-CT,89597008,NA +GARD:0005686,Orphanet,371,Exact +GARD:0005686,MedDRA,10053241,Exact +GARD:0005686,ICD-10,E74.0,NTBT +GARD:0005686,UMLS,C0017926,Exact +GARD:0005686,OMIM,232800,Exact +GARD:0005688,Orphanet,1777,Exact +GARD:0005688,UMLS,C1857512,Exact +GARD:0005688,MeSH,C536959,Exact +GARD:0005688,ICD-10,Q87.8,NTBT +GARD:0005688,OMIM,218340,Exact +GARD:0005688,SNOMED-CT,719947004,NA +GARD:0005691,SNOMED-CT,25362006,NA +GARD:0005691,Orphanet,773,Exact +GARD:0005691,UMLS,C0034960,Exact +GARD:0005691,ICD-11,5C57.1,NTBT +GARD:0005691,ICD-10,G60.1,Exact +GARD:0005691,MedDRA,10038275,Exact +GARD:0005691,OMIM,266500,Exact +GARD:0005691,OMIM,614879,BTNT +GARD:0005691,MeSH,D012035,Exact +GARD:0005692,Orphanet,90797,Exact +GARD:0005692,ICD-10,E34.5,NTBT +GARD:0005692,UMLS,C0268301,Exact +GARD:0005692,UMLS,C0860159,Exact +GARD:0005692,OMIM,312300,Exact +GARD:0005692,SNOMED-CT,122811000119101,NA +GARD:0005693,SNOMED-CT,67224007,NA +GARD:0005693,Orphanet,29207,Exact +GARD:0005693,MeSH,D016918,Exact +GARD:0005693,MedDRA,10003267,Exact +GARD:0005693,UMLS,C0085435,Exact +GARD:0005693,MedDRA,10038294,Exact +GARD:0005693,UMLS,C0035012,Exact +GARD:0005693,ICD-11,FA11.2,NTBT +GARD:0005693,ICD-10,M02.3,Exact +GARD:0005694,SNOMED-CT,28835009,NA +GARD:0005694,Orphanet,791,Exact +GARD:0005694,OMIM,601718,BTNT +GARD:0005694,OMIM,615434,BTNT +GARD:0005694,OMIM,613617,BTNT +GARD:0005694,OMIM,612712,NTBT +GARD:0005694,OMIM,613660,NTBT +GARD:0005694,OMIM,616562,BTNT +GARD:0005694,OMIM,614180,BTNT +GARD:0005694,OMIM,400004,BTNT +GARD:0005694,OMIM,609913,BTNT +GARD:0005694,OMIM,613428,BTNT +GARD:0005694,OMIM,602772,BTNT +GARD:0005694,OMIM,180104,BTNT +GARD:0005694,OMIM,600852,BTNT +GARD:0005694,OMIM,617023,BTNT +GARD:0005694,OMIM,614494,BTNT +GARD:0005694,MedDRA,10038914,Exact +GARD:0005694,OMIM,616544,BTNT +GARD:0005694,ICD-10,H35.5,NTBT +GARD:0005694,UMLS,C0035334,Exact +GARD:0005694,OMIM,617304,BTNT +GARD:0005694,OMIM,180105,BTNT +GARD:0005694,OMIM,613464,BTNT +GARD:0005694,OMIM,617781,BTNT +GARD:0005694,OMIM,612165,BTNT +GARD:0005694,OMIM,600105,BTNT +GARD:0005694,OMIM,614500,NTBT +GARD:0005694,OMIM,613769,BTNT +GARD:0005694,OMIM,615725,BTNT +GARD:0005694,OMIM,600059,BTNT +GARD:0005694,OMIM,268060,BTNT +GARD:0005694,OMIM,300605,BTNT +GARD:0005694,OMIM,606068,BTNT +GARD:0005694,OMIM,610359,BTNT +GARD:0005694,OMIM,607921,BTNT +GARD:0005694,OMIM,612943,BTNT +GARD:0005694,OMIM,268000,Exact +GARD:0005694,OMIM,619007,ND (not yet decided/unable to decide) +GARD:0005694,OMIM,613758,BTNT +GARD:0005694,OMIM,608380,BTNT +GARD:0005694,OMIM,604393,NTBT +GARD:0005694,OMIM,618173,BTNT +GARD:0005694,OMIM,613767,BTNT +GARD:0005694,OMIM,180210,BTNT +GARD:0005694,OMIM,616188,ND (not yet decided/unable to decide) +GARD:0005694,OMIM,613809,BTNT +GARD:0005694,OMIM,180100,BTNT +GARD:0005694,OMIM,615922,BTNT +GARD:0005694,OMIM,613731,BTNT +GARD:0005694,OMIM,613827,BTNT +GARD:0005694,OMIM,611131,BTNT +GARD:0005694,OMIM,615565,BTNT +GARD:0005694,OMIM,613194,BTNT +GARD:0005694,OMIM,604232,NTBT +GARD:0005694,OMIM,617123,BTNT +GARD:0005694,OMIM,613861,BTNT +GARD:0005694,OMIM,618697,BTNT +GARD:0005694,OMIM,613983,BTNT +GARD:0005694,OMIM,617433,BTNT +GARD:0005694,OMIM,600138,BTNT +GARD:0005694,OMIM,610282,BTNT +GARD:0005694,OMIM,616394,BTNT +GARD:0005694,OMIM,602594,BTNT +GARD:0005694,OMIM,613810,BTNT +GARD:0005694,OMIM,613801,BTNT +GARD:0005694,OMIM,613756,BTNT +GARD:0005694,OMIM,618220,BTNT +GARD:0005694,OMIM,614181,BTNT +GARD:0005694,OMIM,618826,BTNT +GARD:0005694,OMIM,613341,NTBT +GARD:0005694,OMIM,618345,BTNT +GARD:0005694,OMIM,618613,BTNT +GARD:0005694,OMIM,616469,BTNT +GARD:0005694,OMIM,613862,BTNT +GARD:0005694,OMIM,618955,ND (not yet decided/unable to decide) +GARD:0005694,OMIM,300029,BTNT +GARD:0005694,OMIM,613581,BTNT +GARD:0005694,OMIM,612095,BTNT +GARD:0005694,OMIM,609923,BTNT +GARD:0005694,OMIM,613794,BTNT +GARD:0005694,OMIM,601414,BTNT +GARD:0005694,MeSH,D012174,Exact +GARD:0005694,OMIM,617460,BTNT +GARD:0005694,OMIM,610599,BTNT +GARD:0005694,OMIM,312612,BTNT +GARD:0005694,OMIM,612572,BTNT +GARD:0005694,OMIM,312600,BTNT +GARD:0005694,OMIM,600132,BTNT +GARD:0005694,OMIM,618195,BTNT +GARD:0005694,OMIM,613575,BTNT +GARD:0005694,OMIM,615780,BTNT +GARD:0005694,OMIM,300424,BTNT +GARD:0005694,OMIM,608133,BTNT +GARD:0005694,OMIM,613582,BTNT +GARD:0005694,OMIM,613750,BTNT +GARD:0005694,OMIM,268025,BTNT +GARD:0005694,OMIM,300155,BTNT +GARD:0005694,OMIM,615233,BTNT +GARD:0005695,Orphanet,90050,Exact +GARD:0005695,ICD-10,H35.1,Exact +GARD:0005695,OMIM,133780,NTBT +GARD:0005695,SNOMED-CT,415297005,NA +GARD:0005695,UMLS,C0035344,Exact +GARD:0005695,ICD-11,9B71.3,Exact +GARD:0005695,MeSH,D012178,Exact +GARD:0005695,MedDRA,10038933,Exact +GARD:0005696,Orphanet,778,Exact +GARD:0005696,MeSH,D015518,Exact +GARD:0005696,OMIM,312750,Exact +GARD:0005696,MedDRA,10039000,Exact +GARD:0005696,ICD-11,LD90.4,Exact +GARD:0005696,ICD-10,F84.2,Exact +GARD:0005696,UMLS,C0035372,Exact +GARD:0005696,SNOMED-CT,68618008,NA +GARD:0005697,OMIM,228800,Exact +GARD:0005697,ICD-10-CM,M35.5,NA +GARD:0005697,GeneticAlliance,4941,NA +GARD:0005697,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/retroperitoneal-fibrosis,NA +GARD:0005697,SNOMED-CT,111210001,NA +GARD:0005697,UMLS,C0494949,NA +GARD:0005699,Orphanet,3099,Exact +GARD:0005699,OMIM,268240,BTNT +GARD:0005699,UMLS,C0035436,Exact +GARD:0005699,ICD-10,I01.8,BTNT +GARD:0005699,ICD-10,I01.9,BTNT +GARD:0005699,ICD-10,I01.1,BTNT +GARD:0005699,MedDRA,10039054,Exact +GARD:0005699,MeSH,D012213,Exact +GARD:0005699,ICD-10,I01.2,BTNT +GARD:0005699,ICD-10,I00,BTNT +GARD:0005699,ICD-10,I01.0,BTNT +GARD:0005699,SNOMED-CT,58718002,NA +GARD:0005701,SNOMED-CT,417604002,NA +GARD:0005701,Orphanet,782,Exact +GARD:0005701,OMIM,180500,Exact +GARD:0005701,MeSH,C535679,Exact +GARD:0005701,OMIM,601499,BTNT +GARD:0005701,UMLS,C0265341,Exact +GARD:0005701,MedDRA,10059255,Exact +GARD:0005701,UMLS,C3495488,Exact +GARD:0005701,ICD-10,Q13.8,NTBT +GARD:0005701,OMIM,602482,BTNT +GARD:0005708,Orphanet,930,Exact +GARD:0005708,UMLS,C0859976,Exact +GARD:0005708,ICD-11,DA21.0,NTBT +GARD:0005708,ICD-10,K22.0,Exact +GARD:0005708,UMLS,C0014848,Exact +GARD:0005708,MedDRA,10036669,Exact +GARD:0005708,OMIM,200400,BTNT +GARD:0005708,MeSH,C536011,Exact +GARD:0005708,SNOMED-CT,715192004,NA +GARD:0005714,SNOMED-CT,274864009,NA +GARD:0005714,Orphanet,365,Exact +GARD:0005714,MeSH,D006009,Exact +GARD:0005714,UMLS,C0017921,Exact +GARD:0005714,ICD-10,E74.0,NTBT +GARD:0005714,OMIM,232300,Exact +GARD:0005714,MedDRA,10053185,Exact +GARD:0005721,SNOMED-CT,715951007,NA +GARD:0005721,Orphanet,36,Exact +GARD:0005721,UMLS,C0796147,Exact +GARD:0005721,OMIM,200990,Exact +GARD:0005721,ICD-10,Q04.0,NTBT +GARD:0005721,UMLS,C2931760,Exact +GARD:0005723,Orphanet,37,Exact +GARD:0005723,ICD-11,5C64.20,Exact +GARD:0005723,UMLS,C0221036,Exact +GARD:0005723,ICD-10,E83.2,NTBT +GARD:0005723,OMIM,201100,Exact +GARD:0005723,SNOMED-CT,37702000,NA +GARD:0005724,Orphanet,950,Exact +GARD:0005724,OMIM,614613,BTNT +GARD:0005724,UMLS,C0220659,Exact +GARD:0005724,MeSH,C538179,Exact +GARD:0005724,ICD-10,Q75.4,NTBT +GARD:0005724,OMIM,101800,BTNT +GARD:0005724,SNOMED-CT,66758006,NA +GARD:0005725,SNOMED-CT,74107003,NA +GARD:0005725,Orphanet,963,Exact +GARD:0005725,OMIM,300943,BTNT +GARD:0005725,UMLS,C0001206,Exact +GARD:0005725,OMIM,102200,NTBT +GARD:0005725,MeSH,D000172,Exact +GARD:0005725,MedDRA,10000599,Exact +GARD:0005725,ICD-10,E22.0,Exact +GARD:0005727,Orphanet,199296,Exact +GARD:0005727,OMIM,201400,Exact +GARD:0005727,ICD-10,E23.6,NTBT +GARD:0005728,Orphanet,457095,Exact +GARD:0005728,ICD-10,A42.0,BTNT +GARD:0005728,ICD-10,A42.8,BTNT +GARD:0005728,ICD-10,A42.7,BTNT +GARD:0005728,ICD-10,A42.2,BTNT +GARD:0005728,ICD-10,A42.1,BTNT +GARD:0005732,Orphanet,79276,Exact +GARD:0005732,SNOMED-CT,234422006,NA +GARD:0005732,UMLS,C0162565,Exact +GARD:0005732,MeSH,D017118,Exact +GARD:0005732,OMIM,176000,Exact +GARD:0005732,ICD-10,E80.2,NTBT +GARD:0005739,SNOMED-CT,34748004,NA +GARD:0005739,Orphanet,974,Exact +GARD:0005739,OMIM,616589,BTNT +GARD:0005739,UMLS,C0265268,Exact +GARD:0005739,OMIM,616028,BTNT +GARD:0005739,ICD-10,Q87.2,NTBT +GARD:0005739,OMIM,614814,BTNT +GARD:0005739,OMIM,615297,BTNT +GARD:0005739,OMIM,614219,BTNT +GARD:0005739,OMIM,100300,Exact +GARD:0005739,MeSH,C538225,Exact +GARD:0005740,Orphanet,85138,Exact +GARD:0005740,MedDRA,10001130,Exact +GARD:0005740,ICD-10,E27.1,NTBT +GARD:0005740,SNOMED-CT,363732003,NA +GARD:0005740,MeSH,D000224,Exact +GARD:0005740,UMLS,C0001403,Exact +GARD:0005740,UMLS,C0271737,Exact +GARD:0005740,OMIM,240200,Exact +GARD:0005740,OMIM,103230,BTNT +GARD:0005740,ICD-11,5A74.0,Exact +GARD:0005747,SNOMED-CT,285311001,NA +GARD:0005747,Orphanet,314419,Exact +GARD:0005747,ICD-10,D16.4,NTBT +GARD:0005747,MedDRA,10066796,Exact +GARD:0005747,UMLS,C0002448,Exact +GARD:0005747,ICD-10,D16.5,NTBT +GARD:0005748,SNOMED-CT,44940001,NA +GARD:0005748,Orphanet,277,Exact +GARD:0005748,ICD-10,D81.3,Exact +GARD:0005748,ICD-11,4A01.10,NTBT +GARD:0005748,UMLS,C0392607,Exact +GARD:0005748,MeSH,C531816,Exact +GARD:0005748,OMIM,102700,Exact +GARD:0005748,MedDRA,10066367,Exact +GARD:0005748,UMLS,C0268124,Exact +GARD:0005749,Orphanet,454718,Exact +GARD:0005749,OMIM,103100,NTBT +GARD:0005749,ICD-10,H57.0,NTBT +GARD:0005749,UMLS,C0001519,Exact +GARD:0005750,Orphanet,36397,Exact +GARD:0005750,SNOMED-CT,71404003,NA +GARD:0005750,ICD-10,E88.2,NTBT +GARD:0005750,OMIM,103200,Exact +GARD:0005750,UMLS,C0001529,Exact +GARD:0005750,MeSH,D000274,Exact +GARD:0005750,MedDRA,10001294,Exact +GARD:0005758,Orphanet,43,Exact +GARD:0005758,MedDRA,10051260,Exact +GARD:0005758,OMIM,300100,Exact +GARD:0005758,UMLS,C0162309,Exact +GARD:0005758,ICD-10,E71.3,NTBT +GARD:0005758,OMIM,302700,BTNT +GARD:0005758,MeSH,D000326,Exact +GARD:0005758,SNOMED-CT,65389002,NA +GARD:0005761,Orphanet,98880,Exact +GARD:0005761,UMLS,C2584774,Exact +GARD:0005761,ICD-10,D68.2,NTBT +GARD:0005761,OMIM,202400,Exact +GARD:0005761,SNOMED-CT,154818001,NA +GARD:0005764,Orphanet,50,Exact +GARD:0005764,MeSH,D058540,Exact +GARD:0005764,MedDRA,10054935,Exact +GARD:0005764,UMLS,C0175713,Exact +GARD:0005764,OMIM,304050,Exact +GARD:0005764,ICD-10,Q04.0,NTBT +GARD:0005764,SNOMED-CT,80651009,NA +GARD:0005770,Orphanet,457059,Exact +GARD:0005774,SNOMED-CT,81854007,NA +GARD:0005774,Orphanet,58,Exact +GARD:0005774,UMLS,C0270726,Exact +GARD:0005774,ICD-11,8A44.2,Exact +GARD:0005774,MeSH,D038261,Exact +GARD:0005774,ICD-10,E75.2,NTBT +GARD:0005774,OMIM,203450,Exact +GARD:0005775,Orphanet,56,Exact +GARD:0005775,UMLS,C0002066,Exact +GARD:0005775,ICD-10,E70.2,NTBT +GARD:0005775,MeSH,D000474,Exact +GARD:0005775,UMLS,C2931645,Exact +GARD:0005775,MeSH,C537862,Exact +GARD:0005775,OMIM,203500,Exact +GARD:0005775,MedDRA,10001689,Exact +GARD:0005775,SNOMED-CT,360378009,NA +GARD:0005783,SNOMED-CT,20415001,NA +GARD:0005783,Orphanet,726,Exact +GARD:0005783,UMLS,C0205710,Exact +GARD:0005783,MedDRA,10062943,Exact +GARD:0005783,MeSH,D002549,Exact +GARD:0005783,ICD-10,G31.8,NTBT +GARD:0005783,OMIM,203700,Exact +GARD:0005784,SNOMED-CT,30188007,NA +GARD:0005784,Orphanet,60,Exact +GARD:0005784,MedDRA,10001806,Exact +GARD:0005784,ICD-10,E88.0,NTBT +GARD:0005784,MeSH,D019896,Exact +GARD:0005784,MeSH,C531610,Exact +GARD:0005784,UMLS,C0221757,Exact +GARD:0005784,UMLS,C3501835,Exact +GARD:0005784,ICD-11,5C5A,Exact +GARD:0005784,OMIM,613490,Exact +GARD:0005785,Orphanet,63,Exact +GARD:0005785,MedDRA,10001843,Exact +GARD:0005785,MeSH,D009394,Exact +GARD:0005785,OMIM,301050,BTNT +GARD:0005785,OMIM,203780,BTNT +GARD:0005785,ICD-10,Q87.8,NTBT +GARD:0005785,UMLS,C1567741,Exact +GARD:0005785,OMIM,104200,BTNT +GARD:0005785,SNOMED-CT,770414008,NA +GARD:0005786,Orphanet,803,Exact +GARD:0005786,OMIM,606070,BTNT +GARD:0005786,OMIM,105400,Exact +GARD:0005786,OMIM,612069,BTNT +GARD:0005786,ICD-10,G12.2,NTBT +GARD:0005786,OMIM,615426,BTNT +GARD:0005786,OMIM,614808,BTNT +GARD:0005786,OMIM,608627,BTNT +GARD:0005786,OMIM,619141,BTNT +GARD:0005786,OMIM,613954,BTNT +GARD:0005786,OMIM,615515,BTNT +GARD:0005786,OMIM,606640,BTNT +GARD:0005786,MedDRA,10002026,Exact +GARD:0005786,OMIM,619133,BTNT +GARD:0005786,MeSH,D000690,Exact +GARD:0005786,OMIM,611895,BTNT +GARD:0005786,OMIM,616437,BTNT +GARD:0005786,OMIM,205250,BTNT +GARD:0005786,OMIM,608031,BTNT +GARD:0005786,UMLS,C0002736,Exact +GARD:0005786,ICD-11,8B60.0,Exact +GARD:0005786,OMIM,612577,BTNT +GARD:0005786,OMIM,616208,BTNT +GARD:0005786,OMIM,600795,BTNT +GARD:0005786,OMIM,608030,BTNT +GARD:0005786,OMIM,300857,BTNT +GARD:0005786,OMIM,613435,BTNT +GARD:0005786,OMIM,617892,BTNT +GARD:0005786,OMIM,617839,BTNT +GARD:0005786,SNOMED-CT,86044005,NA +GARD:0005787,Orphanet,64,Exact +GARD:0005787,ICD-10,E34.8,NTBT +GARD:0005787,SNOMED-CT,63702009,NA +GARD:0005787,MeSH,D056769,Exact +GARD:0005787,OMIM,203800,Exact +GARD:0005787,MedDRA,10068783,Exact +GARD:0005787,UMLS,C0268425,Exact +GARD:0005791,SNOMED-CT,78494001,NA +GARD:0005791,Orphanet,88661,Exact +GARD:0005791,ICD-10,K00.5,NTBT +GARD:0005791,OMIM,616270,BTNT +GARD:0005791,OMIM,301200,BTNT +GARD:0005791,OMIM,104500,BTNT +GARD:0005791,OMIM,616221,BTNT +GARD:0005791,OMIM,617217,BTNT +GARD:0005791,OMIM,104510,BTNT +GARD:0005791,OMIM,130900,BTNT +GARD:0005791,UMLS,C0002452,Exact +GARD:0005791,MeSH,D000567,Exact +GARD:0005791,OMIM,614832,BTNT +GARD:0005791,OMIM,204700,BTNT +GARD:0005791,OMIM,612529,BTNT +GARD:0005791,OMIM,104530,BTNT +GARD:0005791,OMIM,204650,BTNT +GARD:0005791,ICD-11,LA30.6,Exact +GARD:0005791,OMIM,613211,BTNT +GARD:0005791,OMIM,301201,BTNT +GARD:0005791,OMIM,615887,BTNT +GARD:0005797,Orphanet,85443,Exact +GARD:0005797,MedDRA,10036673,Exact +GARD:0005797,UMLS,C0268381,Exact +GARD:0005797,ICD-10,E85.9,NTBT +GARD:0005797,ICD-11,5D00.0,Exact +GARD:0005797,OMIM,254500,NTBT +GARD:0005797,MeSH,C531616,Exact +GARD:0005797,SNOMED-CT,23132008,NA +GARD:0005802,SNOMED-CT,42432003,NA +GARD:0005802,Orphanet,90652,Exact +GARD:0005802,ICD-10,Q87.0,NTBT +GARD:0005802,UMLS,C1844696,Exact +GARD:0005802,OMIM,304120,Exact +GARD:0005802,MeSH,C538089,Exact +GARD:0005803,Orphanet,754,Exact +GARD:0005803,UMLS,C0039585,Exact +GARD:0005803,UMLS,C0936016,Exact +GARD:0005803,ICD-11,LD2A.4,Exact +GARD:0005803,MeSH,D013734,Exact +GARD:0005803,MedDRA,10056292,Exact +GARD:0005803,ICD-10,E34.5,Exact +GARD:0005803,SNOMED-CT,12313004,NA +GARD:0005808,Orphanet,1048,Exact +GARD:0005808,OMIM,206500,Exact +GARD:0005808,ICD-11,LA00.0,BTNT +GARD:0005810,SNOMED-CT,76880004,NA +GARD:0005810,Orphanet,72,Exact +GARD:0005810,UMLS,C0162635,Exact +GARD:0005810,ICD-11,LD90.0,Exact +GARD:0005810,ICD-10,Q93.5,NTBT +GARD:0005810,OMIM,105830,Exact +GARD:0005810,MeSH,D017204,Exact +GARD:0005810,MedDRA,10049004,Exact +GARD:0005816,SNOMED-CT,69278003,NA +GARD:0005816,Orphanet,250923,Exact +GARD:0005816,OMIM,617142,BTNT +GARD:0005816,OMIM,106210,Exact +GARD:0005816,ICD-11,LA11.3,Exact +GARD:0005816,UMLS,C0003076,Exact +GARD:0005816,OMIM,617141,BTNT +GARD:0005816,ICD-10,Q13.1,NTBT +GARD:0005818,Orphanet,99797,Exact +GARD:0005818,UMLS,C0399352,Exact +GARD:0005818,MeSH,D000848,Exact +GARD:0005818,ICD-10,K00.0,Exact +GARD:0005818,OMIM,206780,Exact +GARD:0005818,ICD-11,LA30.0,Exact +GARD:0005818,MedDRA,10002583,Exact +GARD:0005818,SNOMED-CT,16958000,NA +GARD:0005819,Orphanet,325124,Exact +GARD:0005819,ICD-10,Q55.0,NTBT +GARD:0005819,SNOMED-CT,371015003,NA +GARD:0005824,Orphanet,80,Exact +GARD:0005824,Orphanet,464343,BTNT +GARD:0005826,SNOMED-CT,62964007,NA +GARD:0005826,Orphanet,83,Exact +GARD:0005826,MeSH,C537780,Exact +GARD:0005826,UMLS,C0265307,Exact +GARD:0005826,ICD-10,Q87.0,NTBT +GARD:0005826,OMIM,207410,Exact +GARD:0005826,UMLS,C2936791,Exact +GARD:0005828,SNOMED-CT,7305005,NA +GARD:0005828,Orphanet,1457,Exact +GARD:0005828,MedDRA,10009807,Exact +GARD:0005828,MeSH,C531623,Exact +GARD:0005828,OMIM,120000,Exact +GARD:0005828,MeSH,D001017,Exact +GARD:0005828,UMLS,C2930803,Exact +GARD:0005828,ICD-10,Q25.1,Exact +GARD:0005828,UMLS,C0003492,Exact +GARD:0005828,ICD-11,LA8B.21,Exact +GARD:0005833,SNOMED-CT,205258009,NA +GARD:0005833,Orphanet,87,Exact +GARD:0005833,ICD-10,Q87.0,NTBT +GARD:0005833,UMLS,C0001193,Exact +GARD:0005833,UMLS,C1510455,Exact +GARD:0005833,OMIM,101200,Exact +GARD:0005833,MedDRA,10002943,Exact +GARD:0005833,MeSH,D000168,Exact +GARD:0005833,ICD-11,LD24.G2,Exact +GARD:0005835,Orphanet,1114,Exact +GARD:0005835,OMIM,600360,Exact +GARD:0005835,OMIM,107600,Exact +GARD:0005835,ICD-10,Q84.8,NTBT +GARD:0005835,MeSH,C536840,Exact +GARD:0005835,UMLS,C0282160,Exact +GARD:0005836,Orphanet,88,Exact +GARD:0005836,OMIM,614743,NTBT +GARD:0005836,MeSH,C538494,Exact +GARD:0005836,OMIM,614742,NTBT +GARD:0005836,ICD-10,D61.0,Exact +GARD:0005836,ICD-11,3A70.12,Exact +GARD:0005836,OMIM,609135,Exact +GARD:0005836,UMLS,C0348890,Exact +GARD:0005836,SNOMED-CT,191256002,NA +GARD:0005839,Orphanet,137817,Exact +GARD:0005839,UMLS,C0270617,Exact +GARD:0005839,UMLS,C0003708,Exact +GARD:0005839,ICD-10,G03.9,NTBT +GARD:0005839,MeSH,D001100,Exact +GARD:0005839,OMIM,182950,BTNT +GARD:0005839,ICD-11,8E40.3,Exact +GARD:0005839,MedDRA,10003074,Exact +GARD:0005839,SNOMED-CT,8217007,NA +GARD:0005840,SNOMED-CT,23501004,NA +GARD:0005840,Orphanet,90,Exact +GARD:0005840,MeSH,D020162,Exact +GARD:0005840,MedDRA,10062695,Exact +GARD:0005840,UMLS,C0268548,Exact +GARD:0005840,ICD-11,5C50.A2,Exact +GARD:0005840,OMIM,207800,Exact +GARD:0005840,ICD-10,E72.2,NTBT +GARD:0005843,Orphanet,23,Exact +GARD:0005843,MedDRA,10058299,Exact +GARD:0005843,MeSH,D056807,Exact +GARD:0005843,SNOMED-CT,41013004,NA +GARD:0005843,OMIM,207900,Exact +GARD:0005843,ICD-11,5C50.A0,Exact +GARD:0005843,UMLS,C0268547,Exact +GARD:0005843,ICD-10,E72.2,NTBT +GARD:0005847,Orphanet,247,Exact +GARD:0005847,ICD-10,I42.8,NTBT +GARD:0005847,ICD-11,BC43.6,Exact +GARD:0005847,MedDRA,10058093,Exact +GARD:0005847,SNOMED-CT,253528005,NA +GARD:0005847,UMLS,C0349788,Exact +GARD:0005847,MeSH,D019571,Exact +GARD:0005852,Orphanet,2302,Exact +GARD:0005852,UMLS,C0003949,Exact +GARD:0005852,ICD-10,J61,NTBT +GARD:0005852,SNOMED-CT,22607003,NA +GARD:0005853,Orphanet,137686,Exact +GARD:0005853,UMLS,C0241593,Exact +GARD:0005853,SNOMED-CT,48236007,NA +GARD:0005853,MedDRA,10053868,Exact +GARD:0005853,UMLS,C1704274,Exact +GARD:0005853,UMLS,C0156372,Exact +GARD:0005853,MedDRA,10022821,Exact +GARD:0005853,ICD-10,N85.6,Exact +GARD:0005853,ICD-11,GA16.2,Exact +GARD:0005854,SNOMED-CT,54954004,NA +GARD:0005854,Orphanet,93,Exact +GARD:0005854,MeSH,D054880,Exact +GARD:0005854,MedDRA,10068220,Exact +GARD:0005854,OMIM,208400,Exact +GARD:0005854,MeSH,C538402,Exact +GARD:0005854,ICD-10,E77.1,NTBT +GARD:0005854,UMLS,C2931840,Exact +GARD:0005854,UMLS,C0268225,Exact +GARD:0005856,Orphanet,1163,Exact +GARD:0005856,ICD-10,B44.1,BTNT +GARD:0005856,ICD-10,B44.8,BTNT +GARD:0005856,MedDRA,10003488,Exact +GARD:0005856,ICD-10,B44.2,BTNT +GARD:0005856,ICD-10,B44.0,BTNT +GARD:0005856,OMIM,614079,BTNT +GARD:0005856,ICD-10,B44.9,BTNT +GARD:0005856,SNOMED-CT,65553006,NA +GARD:0005856,ICD-10,B44.7,BTNT +GARD:0005856,MeSH,D001228,Exact +GARD:0005856,UMLS,C0004030,Exact +GARD:0005860,Orphanet,251589,Exact +GARD:0005860,UMLS,C0334579,Exact +GARD:0005860,ICD-10,C71.9,NTBT +GARD:0005860,MedDRA,10060971,Exact +GARD:0005860,SNOMED-CT,82501000119102,NA +GARD:0005860,MedDRA,10002224,Exact +GARD:0005862,Orphanet,100,Exact +GARD:0005862,MeSH,D001260,Exact +GARD:0005862,OMIM,208900,Exact +GARD:0005862,UMLS,C0004135,Exact +GARD:0005862,MedDRA,10003594,Exact +GARD:0005862,ICD-10,G11.3,NTBT +GARD:0005862,OMIM,208910,BTNT +GARD:0005862,SNOMED-CT,68504005,NA +GARD:0005864,SNOMED-CT,715342005,NA +GARD:0005864,Orphanet,847,Exact +GARD:0005864,OMIM,301040,Exact +GARD:0005864,ICD-10,D56.0,NTBT +GARD:0005864,OMIM,309580,BTNT +GARD:0005864,UMLS,C1845055,Exact +GARD:0005865,SNOMED-CT,204318003,NA +GARD:0005865,Orphanet,99103,Exact +GARD:0005865,OMIM,614430,NTBT +GARD:0005865,MedDRA,10031302,Exact +GARD:0005865,OMIM,611363,BTNT +GARD:0005865,ICD-10,Q21.1,NTBT +GARD:0005865,OMIM,614089,BTNT +GARD:0005865,UMLS,C0344724,Exact +GARD:0005865,MedDRA,10031303,Exact +GARD:0005867,Orphanet,79088,Exact +GARD:0005867,ICD-10,E88.1,NTBT +GARD:0005870,Orphanet,98375,Exact +GARD:0005870,MedDRA,10002046,Exact +GARD:0005870,SNOMED-CT,413603009,NA +GARD:0005870,ICD-10,D59.0,NTBT +GARD:0005870,UMLS,C0002880,Exact +GARD:0005870,MeSH,D000744,Exact +GARD:0005870,ICD-10,D59.1,NTBT +GARD:0005871,Orphanet,2137,Exact +GARD:0005871,ICD-10,K75.4,Exact +GARD:0005871,MedDRA,10003827,Exact +GARD:0005871,UMLS,C0241910,Exact +GARD:0005871,ICD-11,DB96.0,Exact +GARD:0005871,SNOMED-CT,408335007,NA +GARD:0005878,Orphanet,108,Exact +GARD:0005878,UMLS,C0004576,Exact +GARD:0005878,MedDRA,10003965,Exact +GARD:0005878,ICD-10,B60.0,Exact +GARD:0005878,ICD-11,1F52,Exact +GARD:0005878,MeSH,D001404,Exact +GARD:0005878,SNOMED-CT,21061004,NA +GARD:0005885,SNOMED-CT,230380005,NA +GARD:0005885,Orphanet,228165,Exact +GARD:0005885,ICD-10,G37.5,Exact +GARD:0005885,UMLS,C0004712,Exact +GARD:0005885,MedDRA,10010252,Exact +GARD:0005885,ICD-11,8A40.Y,NTBT +GARD:0005887,Orphanet,109,Exact +GARD:0005887,UMLS,C0265326,Exact +GARD:0005887,OMIM,158350,NTBT +GARD:0005887,ICD-10,Q87.8,NTBT +GARD:0005887,SNOMED-CT,234138005,NA +GARD:0005890,SNOMED-CT,297231002,NA +GARD:0005890,Orphanet,111,Exact +GARD:0005890,OMIM,302060,Exact +GARD:0005890,ICD-10,E71.1,NTBT +GARD:0005890,UMLS,C0574083,Exact +GARD:0005890,MeSH,D056889,Exact +GARD:0005893,Orphanet,112,Exact +GARD:0005893,UMLS,C0004775,Exact +GARD:0005893,MeSH,D001477,Exact +GARD:0005893,ICD-11,GB90.43,Exact +GARD:0005893,OMIM,601678,BTNT +GARD:0005893,OMIM,601198,NTBT +GARD:0005893,ICD-10,E26.8,NTBT +GARD:0005893,OMIM,607364,BTNT +GARD:0005893,OMIM,300971,BTNT +GARD:0005893,OMIM,613090,BTNT +GARD:0005893,OMIM,241200,BTNT +GARD:0005893,OMIM,602522,BTNT +GARD:0005893,MedDRA,10050839,Exact +GARD:0005893,SNOMED-CT,707742001,NA +GARD:0005897,Orphanet,228346,Exact +GARD:0005897,ICD-10,E75.4,NTBT +GARD:0005897,OMIM,204200,Exact +GARD:0005898,Orphanet,97245,Exact +GARD:0005898,ICD-11,8C72,Exact +GARD:0005898,MedDRA,10062547,Exact +GARD:0005898,ICD-10,G71.2,Exact +GARD:0005898,UMLS,C0027127,Exact +GARD:0005898,UMLS,C0270960,Exact +GARD:0005899,Orphanet,115,Exact +GARD:0005899,UMLS,C0220668,Exact +GARD:0005899,ICD-11,LD28.00,Exact +GARD:0005899,MeSH,C536211,Exact +GARD:0005899,OMIM,121050,Exact +GARD:0005899,ICD-10,Q68.8,NTBT +GARD:0005899,SNOMED-CT,205821003,NA +GARD:0005900,Orphanet,98895,Exact +GARD:0005900,OMIM,159050,BTNT +GARD:0005900,UMLS,C0917713,Exact +GARD:0005900,ICD-10,G71.0,NTBT +GARD:0005900,OMIM,300376,Exact +GARD:0005900,MedDRA,10059117,Exact +GARD:0005900,SNOMED-CT,387732009,NA +GARD:0005907,Orphanet,251595,Exact +GARD:0005907,UMLS,C0280785,Exact +GARD:0005907,ICD-10,C71.9,NTBT +GARD:0005907,SNOMED-CT,1157060001,NA +GARD:0005913,SNOMED-CT,34250006,NA +GARD:0005913,Orphanet,46486,Exact +GARD:0005913,MedDRA,10057052,Exact +GARD:0005913,OMIM,164185,NTBT +GARD:0005913,ICD-10,L12.1,NTBT +GARD:0005913,UMLS,C0030804,Exact +GARD:0005913,ICD-11,EB41.1,Exact +GARD:0005926,Orphanet,179,Exact +GARD:0005926,UMLS,C1853959,Exact +GARD:0005926,MeSH,C537630,Exact +GARD:0005926,ICD-10,H30.1,NTBT +GARD:0005926,OMIM,605808,Exact +GARD:0005926,SNOMED-CT,231981005,NA +GARD:0005939,Orphanet,94086,Exact +GARD:0005939,MeSH,C536239,Exact +GARD:0005939,OMIM,211000,Exact +GARD:0005939,UMLS,C0268478,Exact +GARD:0005939,ICD-10,E70.8,NTBT +GARD:0005939,SNOMED-CT,59531002,NA +GARD:0005940,Orphanet,1059,Exact +GARD:0005940,OMIM,112200,Exact +GARD:0005940,ICD-10,Q27.8,NTBT +GARD:0005940,UMLS,C0346072,Exact +GARD:0005940,MeSH,C536240,Exact +GARD:0005940,SNOMED-CT,254784002,NA +GARD:0005950,Orphanet,1270,Exact +GARD:0005950,UMLS,C1859405,Exact +GARD:0005950,ICD-10,Q87.8,NTBT +GARD:0005950,OMIM,211180,Exact +GARD:0005950,MeSH,C537081,Exact +GARD:0005950,SNOMED-CT,711153001,NA +GARD:0005961,Orphanet,1303,Exact +GARD:0005961,UMLS,C2350875,Exact +GARD:0005961,UMLS,C0006272,Exact +GARD:0005961,ICD-10,J44.8,NTBT +GARD:0005961,ICD-11,CA26.0,Exact +GARD:0005962,Orphanet,70589,Exact +GARD:0005962,UMLS,C0006287,Exact +GARD:0005962,MedDRA,10006475,Exact +GARD:0005962,MeSH,D001997,Exact +GARD:0005962,ICD-10,P27.1,Exact +GARD:0005962,ICD-11,KB29.0,Exact +GARD:0005962,SNOMED-CT,67569000,NA +GARD:0005966,SNOMED-CT,75702008,NA +GARD:0005966,Orphanet,1304,Exact +GARD:0005966,ICD-10,A23.8,BTNT +GARD:0005966,ICD-10,A23.1,BTNT +GARD:0005966,ICD-10,A23.0,BTNT +GARD:0005966,MeSH,D002006,Exact +GARD:0005966,ICD-10,A23.2,BTNT +GARD:0005966,ICD-10,A23.3,BTNT +GARD:0005966,ICD-10,A23.9,BTNT +GARD:0005966,UMLS,C0006309,Exact +GARD:0005966,MedDRA,10006500,Exact +GARD:0005968,Orphanet,131,Exact +GARD:0005968,MedDRA,10006537,Exact +GARD:0005968,ICD-10,I82.0,Exact +GARD:0005968,UMLS,C0019154,Exact +GARD:0005968,ICD-11,DB98.5,Exact +GARD:0005968,OMIM,600880,Exact +GARD:0005968,UMLS,C0856761,Exact +GARD:0005968,MeSH,D006502,Exact +GARD:0005968,SNOMED-CT,82385007,NA +GARD:0005969,SNOMED-CT,52403007,NA +GARD:0005969,Orphanet,36258,Exact +GARD:0005969,ICD-10,I73.1,Exact +GARD:0005969,ICD-11,4A44.8,Exact +GARD:0005969,UMLS,C0040021,Exact +GARD:0005969,OMIM,211480,Exact +GARD:0005972,Orphanet,703,Exact +GARD:0005972,MeSH,D010391,Exact +GARD:0005972,ICD-11,EB41.0,Exact +GARD:0005972,ICD-10,L12.0,Exact +GARD:0005972,UMLS,C0030805,Exact +GARD:0005972,SNOMED-CT,77090002,NA +GARD:0005973,Orphanet,543,Exact +GARD:0005973,UMLS,C0079770,Exact +GARD:0005973,ICD-10,C91.8,BTNT +GARD:0005973,UMLS,C0006413,Exact +GARD:0005973,SNOMED-CT,118617000,NA +GARD:0005973,MedDRA,10006595,Exact +GARD:0005973,MeSH,D002051,Exact +GARD:0005973,MedDRA,10067184,Exact +GARD:0005973,OMIM,113970,Exact +GARD:0005973,MeSH,D008228,Exact +GARD:0005973,MedDRA,10053518,Exact +GARD:0005973,ICD-10,C83.7,BTNT +GARD:0005974,Orphanet,353253,Exact +GARD:0005974,ICD-10,K14.6,BTNT +GARD:0005974,UMLS,C0006430,Exact +GARD:0005974,UMLS,C2930806,Exact +GARD:0005974,SNOMED-CT,399165002,NA +GARD:0005975,SNOMED-CT,95323007,NA +GARD:0005975,Orphanet,352763,Exact +GARD:0005975,ICD-10,M34.8,NTBT +GARD:0005978,Orphanet,1308,Exact +GARD:0005978,ICD-10,Q87.8,NTBT +GARD:0005978,OMIM,211750,Exact +GARD:0005978,UMLS,C0796095,Exact +GARD:0005978,SNOMED-CT,715409005,NA +GARD:0005979,Orphanet,91378,Exact +GARD:0005979,OMIM,106100,BTNT +GARD:0005979,ICD-11,4A00.14,Exact +GARD:0005979,ICD-10,D84.1,NTBT +GARD:0005979,MedDRA,10019860,Exact +GARD:0005979,OMIM,610618,BTNT +GARD:0005979,UMLS,C0019243,Exact +GARD:0005979,SNOMED-CT,82966003,NA +GARD:0005980,Orphanet,280062,Exact +GARD:0005980,ICD-10,E83.5,NTBT +GARD:0005980,MedDRA,10051714,Exact +GARD:0005980,UMLS,C0006666,Exact +GARD:0005980,ICD-11,EB90.42,Exact +GARD:0005980,SNOMED-CT,237900002,NA +GARD:0005984,Orphanet,141,Exact +GARD:0005984,ICD-10,E75.2,NTBT +GARD:0005984,UMLS,C0206307,Exact +GARD:0005984,MedDRA,10067608,Exact +GARD:0005984,MeSH,D017825,Exact +GARD:0005984,UMLS,C3542499,Exact +GARD:0005984,OMIM,271900,Exact +GARD:0005984,SNOMED-CT,80544005,NA +GARD:0005993,OMIM,611490,Exact +GARD:0005993,Orphanet,667,NTBT +GARD:0005993,DiseaseOntology,110944,NA +GARD:0005993,UMLS,C1969106,NA +GARD:0005993,GeneticAlliance,5480,NA +GARD:0005994,Orphanet,100093,Exact +GARD:0005994,ICD-10,E34.0,Exact +GARD:0005994,ICD-11,5B10,Exact +GARD:0005994,SNOMED-CT,35868009,NA +GARD:0006001,Orphanet,1361,Exact +GARD:0006001,UMLS,C3495555,Exact +GARD:0006001,UMLS,C0268632,Exact +GARD:0006001,OMIM,212200,Exact +GARD:0006001,UMLS,C3495554,Exact +GARD:0006001,SNOMED-CT,360943000,NA +GARD:0006001,ICD-10,E70.8,NTBT +GARD:0006002,Orphanet,53035,Exact +GARD:0006002,MeSH,C531647,Exact +GARD:0006002,UMLS,C0162510,Exact +GARD:0006002,ICD-10,Q44.6,NTBT +GARD:0006002,MedDRA,10013003,Exact +GARD:0006002,OMIM,600643,Exact +GARD:0006002,UMLS,C1833541,Exact +GARD:0006002,MeSH,D016767,Exact +GARD:0006002,SNOMED-CT,717232005,NA +GARD:0006003,SNOMED-CT,403767009,NA +GARD:0006003,Orphanet,65759,Exact +GARD:0006003,UMLS,C1275078,Exact +GARD:0006003,OMIM,614976,BTNT +GARD:0006003,OMIM,201000,BTNT +GARD:0006003,ICD-10,Q87.0,NTBT +GARD:0006005,Orphanet,93685,Exact +GARD:0006005,ICD-10,D47.7,NTBT +GARD:0006007,SNOMED-CT,8301004,NA +GARD:0006007,Orphanet,3027,Exact +GARD:0006007,ICD-10,Q76.0,NTBT +GARD:0006007,UMLS,C2609260,Exact +GARD:0006007,UMLS,C0300948,Exact +GARD:0006007,MedDRA,10068896,Exact +GARD:0006007,MedDRA,10054842,Exact +GARD:0006007,UMLS,C0344490,Exact +GARD:0006007,MedDRA,10059387,Exact +GARD:0006007,UMLS,C1867774,Exact +GARD:0006007,OMIM,600145,NTBT +GARD:0006010,Orphanet,79489,Exact +GARD:0006010,SNOMED-CT,1157156002,NA +GARD:0006010,ICD-10,D18.1,NTBT +GARD:0006010,UMLS,C0205828,Exact +GARD:0006010,ICD-11,LA90.10,Exact +GARD:0006011,Orphanet,98889,Exact +GARD:0006011,ICD-10,Q04.3,NTBT +GARD:0006011,OMIM,615752,BTNT +GARD:0006011,OMIM,616531,BTNT +GARD:0006011,OMIM,300388,BTNT +GARD:0006011,UMLS,C1845668,Exact +GARD:0006014,SNOMED-CT,43152001,NA +GARD:0006014,Orphanet,597,Exact +GARD:0006014,ICD-10,G71.2,NTBT +GARD:0006014,OMIM,117000,Exact +GARD:0006014,ICD-11,8C72.02,Exact +GARD:0006014,UMLS,C0751951,Exact +GARD:0006015,Orphanet,178029,Exact +GARD:0006015,MeSH,D020790,Exact +GARD:0006015,ICD-10,E23.2,NTBT +GARD:0006015,MedDRA,10068587,Exact +GARD:0006015,SNOMED-CT,45369008,NA +GARD:0006015,UMLS,C0687720,Exact +GARD:0006015,OMIM,304900,BTNT +GARD:0006015,OMIM,125700,BTNT +GARD:0006015,ICD-11,5A61.5,Exact +GARD:0006026,SNOMED-CT,51780007,NA +GARD:0006026,Orphanet,1393,Exact +GARD:0006026,OMIM,117650,Exact +GARD:0006026,UMLS,C0265342,Exact +GARD:0006026,ICD-10,Q87.8,NTBT +GARD:0006027,SNOMED-CT,41283003,NA +GARD:0006027,Orphanet,1466,Exact +GARD:0006027,OMIM,610756,BTNT +GARD:0006027,OMIM,214150,BTNT +GARD:0006027,OMIM,278780,BTNT +GARD:0006027,OMIM,610758,BTNT +GARD:0006027,UMLS,C1859312,Exact +GARD:0006027,ICD-10,Q87.1,NTBT +GARD:0006027,UMLS,C0220722,Exact +GARD:0006027,OMIM,616570,BTNT +GARD:0006027,UMLS,C2931277,Exact +GARD:0006033,Orphanet,98979,Exact +GARD:0006033,MedDRA,10057487,Exact +GARD:0006033,UMLS,C1096100,Exact +GARD:0006033,ICD-10,H21.2,NTBT +GARD:0006033,UMLS,C0544008,Exact +GARD:0006033,SNOMED-CT,392481002,NA +GARD:0006034,Orphanet,166,Exact +GARD:0006034,ICD-10,G60.0,NTBT +GARD:0006034,MedDRA,10034699,Exact +GARD:0006034,UMLS,C0007959,Exact +GARD:0006034,MeSH,D002607,Exact +GARD:0006035,Orphanet,167,Exact +GARD:0006035,OMIM,214500,Exact +GARD:0006035,ICD-10,E70.3,NTBT +GARD:0006035,MedDRA,10008415,Exact +GARD:0006035,UMLS,C0007965,Exact +GARD:0006035,MeSH,D002609,Exact +GARD:0006035,SNOMED-CT,111396008,NA +GARD:0006036,SNOMED-CT,76098004,NA +GARD:0006036,Orphanet,184,Exact +GARD:0006036,ICD-10,K10.8,NTBT +GARD:0006036,OMIM,118400,Exact +GARD:0006036,MedDRA,10070535,Exact +GARD:0006036,UMLS,C0008029,Exact +GARD:0006036,ICD-11,LD24.22,Exact +GARD:0006036,MeSH,D002636,Exact +GARD:0006038,Orphanet,324625,Exact +GARD:0006038,UMLS,C0008055,Exact +GARD:0006038,SNOMED-CT,111864006,NA +GARD:0006038,ICD-11,1D40,Exact +GARD:0006038,ICD-10,A92.0,Exact +GARD:0006039,Orphanet,139,Exact +GARD:0006039,UMLS,C0265267,Exact +GARD:0006039,ICD-10,Q87.8,NTBT +GARD:0006039,OMIM,308050,Exact +GARD:0006039,SNOMED-CT,17608003,NA +GARD:0006040,SNOMED-CT,71961003,NA +GARD:0006040,Orphanet,168782,Exact +GARD:0006040,MedDRA,10008522,Exact +GARD:0006040,UMLS,C0236791,Exact +GARD:0006040,ICD-11,6A02.3,NTBT +GARD:0006040,ICD-10,F84.3,Exact +GARD:0006043,Orphanet,173,Exact +GARD:0006043,ICD-10,A00.0,BTNT +GARD:0006043,MeSH,D002771,Exact +GARD:0006043,UMLS,C0008354,Exact +GARD:0006043,ICD-10,A00.1,BTNT +GARD:0006043,MedDRA,10008631,Exact +GARD:0006043,ICD-10,A00.9,BTNT +GARD:0006043,SNOMED-CT,63650001,NA +GARD:0006048,OMIM,600668,Exact +GARD:0006048,DiseaseOntology,1156,NA +GARD:0006048,GeneticAlliance,1358,NA +GARD:0006048,UMLS,C1833499,NA +GARD:0006049,Orphanet,309789,Exact +GARD:0006049,UMLS,C1859133,Exact +GARD:0006049,OMIM,215100,Exact +GARD:0006049,ICD-10,Q77.3,NTBT +GARD:0006055,SNOMED-CT,447792005,NA +GARD:0006055,Orphanet,55880,Exact +GARD:0006055,ICD-10,C49.9,NTBT +GARD:0006055,MeSH,D002813,Exact +GARD:0006055,UMLS,C0008479,Exact +GARD:0006055,OMIM,215300,Exact +GARD:0006055,MedDRA,10008734,Exact +GARD:0006061,SNOMED-CT,75241009,NA +GARD:0006061,Orphanet,180,Exact +GARD:0006061,UMLS,C0008525,Exact +GARD:0006061,ICD-10,H31.2,NTBT +GARD:0006061,MeSH,D015794,Exact +GARD:0006061,OMIM,303100,Exact +GARD:0006061,MedDRA,10008791,Exact +GARD:0006064,Orphanet,319303,Exact +GARD:0006064,ICD-10,C64,NTBT +GARD:0006064,UMLS,C1266042,Exact +GARD:0006064,SNOMED-CT,733471003,NA +GARD:0006069,Orphanet,96176,Exact +GARD:0006069,UMLS,C2931808,Exact +GARD:0006069,MeSH,C538303,Exact +GARD:0006069,SNOMED-CT,726723004,NA +GARD:0006069,ICD-10,Q93.2,NTBT +GARD:0006072,Orphanet,1440,Exact +GARD:0006072,OMIM,616606,Exact +GARD:0006072,UMLS,C2930916,Exact +GARD:0006072,MeSH,C535487,Exact +GARD:0006072,ICD-10,Q93.2,NTBT +GARD:0006072,SNOMED-CT,702345009,NA +GARD:0006077,SNOMED-CT,88154004,NA +GARD:0006077,Orphanet,1442,Exact +GARD:0006077,MeSH,C538304,Exact +GARD:0006077,ICD-10,Q93.2,NTBT +GARD:0006077,UMLS,C2931809,Exact +GARD:0006077,UMLS,C0265475,Exact +GARD:0006082,Orphanet,1606,Exact +GARD:0006082,UMLS,C1842870,Exact +GARD:0006082,ICD-10,Q93.5,NTBT +GARD:0006082,OMIM,616975,NTBT +GARD:0006082,OMIM,607872,Exact +GARD:0006082,SNOMED-CT,699306003,NA +GARD:0006083,SNOMED-CT,31325007,NA +GARD:0006083,Orphanet,1445,Exact +GARD:0006083,UMLS,C0265487,Exact +GARD:0006083,ICD-10,Q93.2,NTBT +GARD:0006083,UMLS,C2931422,Exact +GARD:0006083,MeSH,C537109,Exact +GARD:0006085,Orphanet,96068,Exact +GARD:0006085,ICD-10,Q92.1,NTBT +GARD:0006085,MeSH,C536796,Exact +GARD:0006085,UMLS,C2931326,Exact +GARD:0006085,UMLS,C2931327,Exact +GARD:0006085,SNOMED-CT,764625002,NA +GARD:0006091,SNOMED-CT,49024004,NA +GARD:0006091,Orphanet,1738,Exact +GARD:0006091,ICD-10,Q92.2,NTBT +GARD:0006091,MeSH,C537643,Exact +GARD:0006091,ICD-11,LD41.31,NTBT +GARD:0006091,UMLS,C2931571,Exact +GARD:0006091,UMLS,C2931570,Exact +GARD:0006093,Orphanet,1742,Exact +GARD:0006093,ICD-10,Q92.2,NTBT +GARD:0006093,SNOMED-CT,74008005,NA +GARD:0006095,Orphanet,1448,Exact +GARD:0006095,MeSH,C537763,Exact +GARD:0006095,ICD-10,Q93.2,NTBT +GARD:0006095,UMLS,C0795814,Exact +GARD:0006095,UMLS,C2931604,Exact +GARD:0006095,SNOMED-CT,765488003,NA +GARD:0006100,Orphanet,379,Exact +GARD:0006100,UMLS,C0018203,Exact +GARD:0006100,OMIM,233690,BTNT +GARD:0006100,MeSH,D006105,Exact +GARD:0006100,OMIM,613960,BTNT +GARD:0006100,OMIM,233710,BTNT +GARD:0006100,OMIM,618935,BTNT +GARD:0006100,OMIM,306400,BTNT +GARD:0006100,MedDRA,10008906,Exact +GARD:0006100,ICD-10,D71,NTBT +GARD:0006100,OMIM,233700,BTNT +GARD:0006100,SNOMED-CT,387759001,NA +GARD:0006102,Orphanet,2932,Exact +GARD:0006102,ICD-10,G61.8,NTBT +GARD:0006102,ICD-11,8C01.3,Exact +GARD:0006102,UMLS,C0393819,Exact +GARD:0006102,MedDRA,10057645,Exact +GARD:0006102,SNOMED-CT,128209004,NA +GARD:0006104,SNOMED-CT,277473004,NA +GARD:0006104,Orphanet,67038,Exact +GARD:0006104,UMLS,C0855095,Exact +GARD:0006104,OMIM,612558,BTNT +GARD:0006104,UMLS,C0023434,Exact +GARD:0006104,OMIM,109543,BTNT +GARD:0006104,OMIM,151400,Exact +GARD:0006104,OMIM,609630,BTNT +GARD:0006104,OMIM,612559,BTNT +GARD:0006104,ICD-10,C91.1,NTBT +GARD:0006104,UMLS,C1868683,Exact +GARD:0006104,OMIM,612557,BTNT +GARD:0006104,MeSH,D015451,Exact +GARD:0006104,MedDRA,10008958,Exact +GARD:0006105,Orphanet,521,Exact +GARD:0006105,OMIM,608232,Exact +GARD:0006105,ICD-10,C92.1,Exact +GARD:0006105,UMLS,C0023473,Exact +GARD:0006105,MedDRA,10009013,Exact +GARD:0006105,SNOMED-CT,92818009,NA +GARD:0006107,OMIM,257100,Exact +GARD:0006107,GeneticAlliance,5211,NA +GARD:0006107,UMLS,C1850381,NA +GARD:0006108,Orphanet,324964,Exact +GARD:0006108,ICD-10,M86.3,Exact +GARD:0006108,OMIM,259680,Exact +GARD:0006108,UMLS,C0410422,Exact +GARD:0006108,ICD-11,4A6Y,NTBT +GARD:0006111,Orphanet,183,Exact +GARD:0006111,UMLS,C0008728,Exact +GARD:0006111,ICD-10,M30.1,Exact +GARD:0006111,MedDRA,10048594,Exact +GARD:0006111,MeSH,D015267,Exact +GARD:0006111,MeSH,C531653,Exact +GARD:0006111,ICD-11,4A44.A2,Exact +GARD:0006111,SNOMED-CT,82275008,NA +GARD:0006114,Orphanet,247525,Exact +GARD:0006114,UMLS,C0751751,Exact +GARD:0006114,OMIM,215700,Exact +GARD:0006114,ICD-10,E72.2,NTBT +GARD:0006114,SNOMED-CT,1149103000,NA +GARD:0006114,MedDRA,10058298,Exact +GARD:0006118,Orphanet,1452,Exact +GARD:0006118,MeSH,D002973,Exact +GARD:0006118,ICD-10,Q74.0,NTBT +GARD:0006118,SNOMED-CT,65976001,NA +GARD:0006118,OMIM,119600,Exact +GARD:0006118,UMLS,C0008928,Exact +GARD:0006118,OMIM,216330,BTNT +GARD:0006121,SNOMED-CT,360455002,NA +GARD:0006121,Orphanet,190,Exact +GARD:0006121,MeSH,D058456,Exact +GARD:0006121,OMIM,300216,Exact +GARD:0006121,MedDRA,10015901,Exact +GARD:0006121,ICD-10,H35.0,NTBT +GARD:0006121,UMLS,C0154832,Exact +GARD:0006122,Orphanet,191,Exact +GARD:0006122,OMIM,610758,BTNT +GARD:0006122,SNOMED-CT,21086008,NA +GARD:0006122,OMIM,133540,BTNT +GARD:0006122,OMIM,616570,BTNT +GARD:0006122,OMIM,214150,BTNT +GARD:0006122,ICD-10,Q87.1,NTBT +GARD:0006122,UMLS,C0009207,Exact +GARD:0006122,MeSH,D003057,Exact +GARD:0006122,MedDRA,10009835,Exact +GARD:0006122,OMIM,278780,BTNT +GARD:0006122,OMIM,610756,BTNT +GARD:0006122,OMIM,216411,BTNT +GARD:0006122,OMIM,216400,BTNT +GARD:0006123,SNOMED-CT,15182000,NA +GARD:0006123,Orphanet,192,Exact +GARD:0006123,ICD-10,Q87.0,NTBT +GARD:0006123,OMIM,303600,Exact +GARD:0006123,UMLS,C0265252,Exact +GARD:0006123,MeSH,D038921,Exact +GARD:0006124,SNOMED-CT,10007009,NA +GARD:0006124,Orphanet,1465,Exact +GARD:0006124,OMIM,618506,BTNT +GARD:0006124,OMIM,614608,BTNT +GARD:0006124,MeSH,C536436,Exact +GARD:0006124,OMIM,616938,BTNT +GARD:0006124,OMIM,618779,BTNT +GARD:0006124,OMIM,615866,BTNT +GARD:0006124,OMIM,617808,BTNT +GARD:0006124,OMIM,614607,BTNT +GARD:0006124,UMLS,C0265338,Exact +GARD:0006124,OMIM,135900,BTNT +GARD:0006124,OMIM,618027,BTNT +GARD:0006124,ICD-10,Q87.1,NTBT +GARD:0006124,OMIM,619325,BTNT +GARD:0006124,OMIM,614609,BTNT +GARD:0006124,OMIM,618362,BTNT +GARD:0006125,Orphanet,98980,Exact +GARD:0006125,UMLS,C1168173,Exact +GARD:0006125,ICD-10,H21.2,NTBT +GARD:0006125,MedDRA,10059200,Exact +GARD:0006125,SNOMED-CT,404633004,NA +GARD:0006126,Orphanet,193,Exact +GARD:0006126,MeSH,C536438,Exact +GARD:0006126,OMIM,216550,Exact +GARD:0006126,MedDRA,10049066,Exact +GARD:0006126,UMLS,C0265223,Exact +GARD:0006126,ICD-10,Q87.8,NTBT +GARD:0006126,SNOMED-CT,56604005,NA +GARD:0006130,Orphanet,56425,Exact +GARD:0006130,UMLS,C0175816,Exact +GARD:0006130,ICD-10,D59.1,NTBT +GARD:0006130,SNOMED-CT,127055007,NA +GARD:0006140,Orphanet,1572,Exact +GARD:0006140,MedDRA,10021449,Exact +GARD:0006140,OMIM,613495,BTNT +GARD:0006140,OMIM,614699,BTNT +GARD:0006140,ICD-10,D83.8,BTNT +GARD:0006140,OMIM,607594,Exact +GARD:0006140,ICD-10,D83.9,BTNT +GARD:0006140,OMIM,613493,BTNT +GARD:0006140,ICD-10,D83.0,BTNT +GARD:0006140,ICD-10,D83.1,BTNT +GARD:0006140,ICD-10,D83.2,BTNT +GARD:0006140,OMIM,613496,BTNT +GARD:0006140,OMIM,613494,BTNT +GARD:0006140,OMIM,615577,BTNT +GARD:0006140,MeSH,D017074,Exact +GARD:0006140,OMIM,240500,BTNT +GARD:0006140,OMIM,146830,BTNT +GARD:0006140,UMLS,C0009447,Exact +GARD:0006140,OMIM,616576,BTNT +GARD:0006140,SNOMED-CT,23238000,NA +GARD:0006145,OMIM,120970,Exact +GARD:0006145,DiseaseOntology,111005,NA +GARD:0006145,UMLS,C3489532,NA +GARD:0006145,GeneticAlliance,1768,NA +GARD:0006148,SNOMED-CT,439699000,NA +GARD:0006148,Orphanet,82,Exact +GARD:0006148,OMIM,613118,Exact +GARD:0006148,ICD-10,D68.5,NTBT +GARD:0006161,Orphanet,2020,Exact +GARD:0006161,OMIM,617760,BTNT +GARD:0006161,OMIM,300580,BTNT +GARD:0006161,ICD-10,G71.2,NTBT +GARD:0006161,UMLS,C0546264,Exact +GARD:0006161,OMIM,255310,Exact +GARD:0006161,SNOMED-CT,240084007,NA +GARD:0006164,SNOMED-CT,46619002,NA +GARD:0006164,Orphanet,60041,Exact +GARD:0006164,MeSH,C535758,Exact +GARD:0006164,ICD-10,Q24.6,Exact +GARD:0006164,ICD-11,LA8Y,NTBT +GARD:0006164,MedDRA,10019263,Exact +GARD:0006164,OMIM,234700,Exact +GARD:0006164,UMLS,C3884338,Exact +GARD:0006164,UMLS,C0149530,Exact +GARD:0006168,OMIM,263200,Exact +GARD:0006168,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/congenital-hepatic-fibrosis,NA +GARD:0006168,DiseaseOntology,120,NA +GARD:0006168,DiseaseOntology,110,NA +GARD:0006168,GeneticAlliance,691,NA +GARD:0006168,DiseaseOntology,802,NA +GARD:0006168,UMLS,C0085548,NA +GARD:0006168,DiseaseOntology,861,NA +GARD:0006168,ICD-10-CM,Q61.1,NA +GARD:0006168,SNOMED-CT,28770003,NA +GARD:0006169,SNOMED-CT,111386004,NA +GARD:0006169,Orphanet,95159,Exact +GARD:0006169,ICD-10,E80.2,NTBT +GARD:0006169,UMLS,C0162569,Exact +GARD:0006169,UMLS,C0268324,Exact +GARD:0006169,OMIM,176100,NTBT +GARD:0006169,MeSH,D017121,Exact +GARD:0006176,OMIM,160800,Exact +GARD:0006176,Orphanet,614,NTBT +GARD:0006176,SNOMED-CT,726051002,NA +GARD:0006176,SNOMED-CT,57938005,NA +GARD:0006176,ICD-10-CM,G71.12,NA +GARD:0006176,UMLS,C2936781,NA +GARD:0006176,DiseaseOntology,2106,NA +GARD:0006189,SNOMED-CT,398958000,NA +GARD:0006189,Orphanet,35173,Exact +GARD:0006189,UMLS,C0282102,Exact +GARD:0006189,ICD-10,Q77.3,NTBT +GARD:0006189,OMIM,302960,Exact +GARD:0006189,UMLS,C0263627,Exact +GARD:0006194,SNOMED-CT,55510008,NA +GARD:0006194,Orphanet,1463,Exact +GARD:0006194,ICD-10,Q24.2,Exact +GARD:0006194,UMLS,C0009995,Exact +GARD:0006196,Orphanet,293603,Exact +GARD:0006196,ICD-10,H18.5,NTBT +GARD:0006196,UMLS,C1857569,Exact +GARD:0006196,SNOMED-CT,417395001,NA +GARD:0006196,OMIM,217700,Exact +GARD:0006202,Orphanet,201,Exact +GARD:0006202,MedDRA,10051906,Exact +GARD:0006202,OMIM,615108,BTNT +GARD:0006202,OMIM,616858,BTNT +GARD:0006202,UMLS,C0018553,Exact +GARD:0006202,ICD-10,Q85.8,NTBT +GARD:0006202,OMIM,615107,BTNT +GARD:0006202,OMIM,612359,BTNT +GARD:0006202,OMIM,158350,Exact +GARD:0006202,MeSH,D006223,Exact +GARD:0006202,OMIM,615106,BTNT +GARD:0006202,OMIM,615109,BTNT +GARD:0006202,SNOMED-CT,58037000,NA +GARD:0006205,Orphanet,581271,Exact +GARD:0006205,ICD-10,G90.8,NTBT +GARD:0006206,Orphanet,207,Exact +GARD:0006206,OMIM,123500,Exact +GARD:0006206,ICD-11,LD24.G1,Exact +GARD:0006206,ICD-10,Q75.1,NTBT +GARD:0006206,SNOMED-CT,28861008,NA +GARD:0006209,Orphanet,1531,Exact +GARD:0006209,MedDRA,10048907,Exact +GARD:0006209,MedDRA,10049889,Exact +GARD:0006209,ICD-11,LB70.0,Exact +GARD:0006209,UMLS,C0010278,Exact +GARD:0006209,SNOMED-CT,57219006,NA +GARD:0006209,MeSH,D003398,Exact +GARD:0006209,ICD-10,Q75.0,Exact +GARD:0006213,Orphanet,281,Exact +GARD:0006213,MeSH,D003410,Exact +GARD:0006213,OMIM,123450,Exact +GARD:0006213,MedDRA,10011385,Exact +GARD:0006213,UMLS,C0010314,Exact +GARD:0006213,UMLS,C2931860,Exact +GARD:0006213,MeSH,C538482,Exact +GARD:0006213,ICD-10,Q93.4,NTBT +GARD:0006213,SNOMED-CT,70173007,NA +GARD:0006217,Orphanet,91139,Exact +GARD:0006217,ICD-10,D89.1,NTBT +GARD:0006217,SNOMED-CT,723674005,NA +GARD:0006218,Orphanet,1546,Exact +GARD:0006218,SNOMED-CT,42386007,NA +GARD:0006218,UMLS,C0010414,Exact +GARD:0006218,MeSH,D003453,Exact +GARD:0006218,ICD-10,B45.1,BTNT +GARD:0006218,ICD-10,B45.8,BTNT +GARD:0006218,ICD-10,B45.2,BTNT +GARD:0006218,ICD-10,B45.0,BTNT +GARD:0006218,ICD-10,B45.7,BTNT +GARD:0006218,MedDRA,10011490,Exact +GARD:0006218,ICD-10,B45.3,BTNT +GARD:0006218,ICD-10,B45.9,BTNT +GARD:0006224,Orphanet,553,Exact +GARD:0006224,MedDRA,10020562,Exact +GARD:0006224,UMLS,C0010481,Exact +GARD:0006224,MeSH,D003480,Exact +GARD:0006224,ICD-10,E24.4,BTNT +GARD:0006224,SNOMED-CT,47270006,NA +GARD:0006224,ICD-10,E24.8,BTNT +GARD:0006224,ICD-10,E24.1,BTNT +GARD:0006224,UMLS,C0001622,Exact +GARD:0006224,ICD-10,E24.0,BTNT +GARD:0006224,ICD-10,E24.2,BTNT +GARD:0006224,MedDRA,10020610,Exact +GARD:0006224,MedDRA,10020564,Exact +GARD:0006224,ICD-10,E24.3,BTNT +GARD:0006224,MedDRA,10011652,Exact +GARD:0006224,MeSH,D000308,Exact +GARD:0006224,ICD-10,E24.9,BTNT +GARD:0006225,SNOMED-CT,7119001,NA +GARD:0006225,Orphanet,535,Exact +GARD:0006225,UMLS,C0024137,Exact +GARD:0006225,MedDRA,10056509,Exact +GARD:0006225,ICD-10,L93.1,BTNT +GARD:0006225,ICD-10,L93.0,BTNT +GARD:0006225,MeSH,D008178,Exact +GARD:0006225,ICD-10,L93.2,BTNT +GARD:0006226,Orphanet,171901,Exact +GARD:0006226,ICD-10,C84.8,NTBT +GARD:0006226,MeSH,D016410,Exact +GARD:0006226,UMLS,C0079773,Exact +GARD:0006226,MedDRA,10011677,Exact +GARD:0006227,Orphanet,209,Exact +GARD:0006227,UMLS,C0010495,Exact +GARD:0006227,MedDRA,10011692,Exact +GARD:0006227,ICD-11,EE41.0,Exact +GARD:0006227,ICD-10,Q82.8,NTBT +GARD:0006227,MeSH,D003483,Exact +GARD:0006227,SNOMED-CT,58588007,NA +GARD:0006228,Orphanet,1556,Exact +GARD:0006228,UMLS,C0345419,Exact +GARD:0006228,ICD-10,Q82.8,NTBT +GARD:0006228,OMIM,219250,Exact +GARD:0006228,MeSH,C536226,Exact +GARD:0006228,SNOMED-CT,254778000,NA +GARD:0006229,SNOMED-CT,191347008,NA +GARD:0006229,Orphanet,2686,Exact +GARD:0006229,MeSH,C536227,Exact +GARD:0006229,MedDRA,10053176,Exact +GARD:0006229,UMLS,C0221023,Exact +GARD:0006229,OMIM,162800,Exact +GARD:0006229,ICD-10,D70,NTBT +GARD:0006233,Orphanet,586,Exact +GARD:0006233,ICD-10,E84.9,BTNT +GARD:0006233,ICD-11,CA25,Exact +GARD:0006233,ICD-10,E84.8,BTNT +GARD:0006233,UMLS,C0010674,Exact +GARD:0006233,ICD-10,E84.0,BTNT +GARD:0006233,MedDRA,10011762,Exact +GARD:0006233,ICD-10,E84.1,BTNT +GARD:0006233,MeSH,D003550,Exact +GARD:0006233,OMIM,219700,Exact +GARD:0006233,SNOMED-CT,190905008,NA +GARD:0006236,Orphanet,213,Exact +GARD:0006236,MeSH,D003554,Exact +GARD:0006236,OMIM,219750,BTNT +GARD:0006236,ICD-10,E72.0,NTBT +GARD:0006236,UMLS,C0010690,Exact +GARD:0006236,MedDRA,10011777,Exact +GARD:0006236,OMIM,219900,BTNT +GARD:0006236,OMIM,219800,BTNT +GARD:0006236,ICD-11,5C60.1,Exact +GARD:0006236,SNOMED-CT,190681003,NA +GARD:0006237,SNOMED-CT,85020001,NA +GARD:0006237,Orphanet,214,Exact +GARD:0006237,UMLS,C0010691,Exact +GARD:0006237,ICD-11,5C60.2,Exact +GARD:0006237,ICD-10,E72.0,NTBT +GARD:0006237,MeSH,D003555,Exact +GARD:0006237,OMIM,220100,Exact +GARD:0006237,UMLS,C0268646,Exact +GARD:0006237,MedDRA,10011778,Exact +GARD:0006242,Orphanet,217,Exact +GARD:0006242,OMIM,220200,Exact +GARD:0006242,ICD-10,Q03.1,NTBT +GARD:0006242,UMLS,C0010964,Exact +GARD:0006242,SNOMED-CT,14447001,NA +GARD:0006243,SNOMED-CT,48611009,NA +GARD:0006243,Orphanet,218,Exact +GARD:0006243,UMLS,C0022595,Exact +GARD:0006243,ICD-10,Q82.8,NTBT +GARD:0006243,OMIM,124200,Exact +GARD:0006243,MedDRA,10023369,Exact +GARD:0006243,MeSH,D007644,Exact +GARD:0006249,Orphanet,679,Exact +GARD:0006249,UMLS,C0221011,Exact +GARD:0006249,SNOMED-CT,400171002,NA +GARD:0006249,MedDRA,10064281,Exact +GARD:0006249,ICD-10,I77.8,NTBT +GARD:0006249,MeSH,D054853,Exact +GARD:0006249,OMIM,602248,Exact +GARD:0006254,Orphanet,99828,Exact +GARD:0006254,ICD-10,A97.9,BTNT +GARD:0006254,ICD-10,A97.1,BTNT +GARD:0006254,MeSH,D003715,Exact +GARD:0006254,OMIM,614371,NTBT +GARD:0006254,UMLS,C0019100,Exact +GARD:0006254,MedDRA,10012310,Exact +GARD:0006254,ICD-10,A97.2,BTNT +GARD:0006254,UMLS,C0376300,Exact +GARD:0006254,UMLS,C0011311,Exact +GARD:0006254,ICD-10,A97.0,BTNT +GARD:0006254,SNOMED-CT,20927009,NA +GARD:0006258,Orphanet,49042,Exact +GARD:0006258,MeSH,D003811,Exact +GARD:0006258,UMLS,C0011436,Exact +GARD:0006258,ICD-11,LA30.8,Exact +GARD:0006258,ICD-10,K00.5,NTBT +GARD:0006258,MedDRA,10054013,Exact +GARD:0006258,UMLS,C2973527,Exact +GARD:0006258,SNOMED-CT,196286005,NA +GARD:0006263,SNOMED-CT,402425006,NA +GARD:0006263,Orphanet,221,Exact +GARD:0006263,ICD-10,M33.1,NTBT +GARD:0006263,MeSH,D003882,Exact +GARD:0006263,MedDRA,10012503,Exact +GARD:0006263,ICD-10,M33.0,NTBT +GARD:0006263,UMLS,C0221056,Exact +GARD:0006263,UMLS,C0011633,Exact +GARD:0006265,Orphanet,83469,Exact +GARD:0006265,UMLS,C0281508,Exact +GARD:0006265,ICD-10,C48.2,NTBT +GARD:0006265,MeSH,D058405,Exact +GARD:0006265,MedDRA,10064581,Exact +GARD:0006265,SNOMED-CT,1156420003,NA +GARD:0006267,Orphanet,71211,Exact +GARD:0006267,ICD-10,G36.0,Exact +GARD:0006267,SNOMED-CT,25044007,NA +GARD:0006267,ICD-11,8A43,Exact +GARD:0006267,MedDRA,10029322,Exact +GARD:0006267,MeSH,D009471,Exact +GARD:0006267,UMLS,C0027873,Exact +GARD:0006274,Orphanet,124,Exact +GARD:0006274,MedDRA,10062989,Exact +GARD:0006274,OMIM,606129,BTNT +GARD:0006274,OMIM,615550,BTNT +GARD:0006274,MeSH,D029503,Exact +GARD:0006274,ICD-10,D61.0,NTBT +GARD:0006274,OMIM,105650,Exact +GARD:0006274,OMIM,610629,BTNT +GARD:0006274,OMIM,614900,BTNT +GARD:0006274,OMIM,618313,BTNT +GARD:0006274,OMIM,612528,BTNT +GARD:0006274,OMIM,612561,BTNT +GARD:0006274,OMIM,606164,BTNT +GARD:0006274,OMIM,613308,BTNT +GARD:0006274,OMIM,612527,BTNT +GARD:0006274,OMIM,615909,BTNT +GARD:0006274,OMIM,612563,BTNT +GARD:0006274,UMLS,C2931850,Exact +GARD:0006274,OMIM,613309,BTNT +GARD:0006274,OMIM,618310,BTNT +GARD:0006274,OMIM,617408,BTNT +GARD:0006274,OMIM,617409,BTNT +GARD:0006274,UMLS,C1260899,Exact +GARD:0006274,OMIM,300946,BTNT +GARD:0006274,OMIM,612562,BTNT +GARD:0006274,OMIM,618312,BTNT +GARD:0006274,SNOMED-CT,71988008,NA +GARD:0006275,SNOMED-CT,58561002,NA +GARD:0006275,Orphanet,628,Exact +GARD:0006275,ICD-10,Q77.5,Exact +GARD:0006275,ICD-11,LD24.03,Exact +GARD:0006275,OMIM,222600,Exact +GARD:0006275,UMLS,C0220726,Exact +GARD:0006276,Orphanet,1672,Exact +GARD:0006276,UMLS,C0342436,Exact +GARD:0006276,ICD-10,C72.8,NTBT +GARD:0006276,SNOMED-CT,237733001,NA +GARD:0006276,UMLS,C0271889,Exact +GARD:0006286,SNOMED-CT,396334002,NA +GARD:0006286,Orphanet,231,Exact +GARD:0006286,UMLS,C0013100,Exact +GARD:0006286,MedDRA,10013618,Exact +GARD:0006286,ICD-10,B72,Exact +GARD:0006286,ICD-11,1F64,Exact +GARD:0006286,MeSH,D004320,Exact +GARD:0006288,SNOMED-CT,60318001,NA +GARD:0006288,Orphanet,233,Exact +GARD:0006288,OMIM,616219,ND (not yet decided/unable to decide) +GARD:0006288,MeSH,D004370,Exact +GARD:0006288,OMIM,604356,BTNT +GARD:0006288,OMIM,126800,Exact +GARD:0006288,ICD-10,H50.8,NTBT +GARD:0006288,MedDRA,10013799,Exact +GARD:0006288,OMIM,617041,BTNT +GARD:0006288,UMLS,C0013261,Exact +GARD:0006290,Orphanet,235,Exact +GARD:0006290,SNOMED-CT,2593002,NA +GARD:0006290,UMLS,C0175691,Exact +GARD:0006290,MedDRA,10059589,Exact +GARD:0006290,ICD-10,Q87.1,NTBT +GARD:0006290,OMIM,223370,Exact +GARD:0006290,MeSH,C535718,Exact +GARD:0006291,SNOMED-CT,76670001,NA +GARD:0006291,Orphanet,98896,Exact +GARD:0006291,UMLS,C0013264,Exact +GARD:0006291,MeSH,D020388,Exact +GARD:0006291,OMIM,310200,Exact +GARD:0006291,MedDRA,10013801,Exact +GARD:0006291,ICD-10,G71.0,NTBT +GARD:0006295,Orphanet,239,Exact +GARD:0006295,OMIM,223800,Exact +GARD:0006295,ICD-10,Q77.7,NTBT +GARD:0006295,OMIM,304950,BTNT +GARD:0006295,MeSH,C535726,Exact +GARD:0006295,UMLS,C0265286,Exact +GARD:0006295,SNOMED-CT,82699004,NA +GARD:0006299,OMIM,127550,Exact +GARD:0006299,Orphanet,1775,NTBT +GARD:0006299,UMLS,C4551974,NA +GARD:0006299,DiseaseOntology,70014,NA +GARD:0006299,GeneticAlliance,2383,NA +GARD:0006300,OMIM,224230,Exact +GARD:0006300,Orphanet,1775,NTBT +GARD:0006300,UMLS,C1857144,NA +GARD:0006300,GeneticAlliance,2384,NA +GARD:0006300,DiseaseOntology,70015,NA +GARD:0006308,SNOMED-CT,723716009,NA +GARD:0006308,Orphanet,79408,Exact +GARD:0006308,OMIM,226600,Exact +GARD:0006308,ICD-10,Q81.2,NTBT +GARD:0006309,Orphanet,40923,Exact +GARD:0006309,MeSH,C538011,Exact +GARD:0006309,MedDRA,10057429,Exact +GARD:0006309,ICD-10,H35.0,NTBT +GARD:0006309,ICD-11,9B77,Exact +GARD:0006309,UMLS,C0271073,Exact +GARD:0006309,SNOMED-CT,54122009,NA +GARD:0006313,SNOMED-CT,204357006,NA +GARD:0006313,Orphanet,1880,Exact +GARD:0006313,UMLS,C0013481,Exact +GARD:0006313,MedDRA,10014075,Exact +GARD:0006313,ICD-11,LA87.03,Exact +GARD:0006313,ICD-10,Q22.5,Exact +GARD:0006313,OMIM,224700,Exact +GARD:0006317,SNOMED-CT,8654005,NA +GARD:0006317,Orphanet,79373,Exact +GARD:0006317,MeSH,D004476,Exact +GARD:0006317,UMLS,C0013575,Exact +GARD:0006317,ICD-11,LD27.0,Exact +GARD:0006317,MedDRA,10010452,Exact +GARD:0006319,Orphanet,2440,Exact +GARD:0006319,OMIM,313350,BTNT +GARD:0006319,OMIM,183600,Exact +GARD:0006319,OMIM,246560,BTNT +GARD:0006319,OMIM,606708,BTNT +GARD:0006319,ICD-10,Q74.8,NTBT +GARD:0006319,OMIM,605289,BTNT +GARD:0006319,UMLS,C0265554,Exact +GARD:0006319,OMIM,225300,BTNT +GARD:0006321,SNOMED-CT,51500006,NA +GARD:0006321,Orphanet,3380,Exact +GARD:0006321,ICD-10,Q91.1,BTNT +GARD:0006321,ICD-10,Q91.2,BTNT +GARD:0006321,MedDRA,10053884,Exact +GARD:0006321,ICD-11,LD40.2,Exact +GARD:0006321,UMLS,C0152096,Exact +GARD:0006321,ICD-10,Q91.0,BTNT +GARD:0006321,ICD-10,Q91.3,BTNT +GARD:0006322,Orphanet,98249,Exact +GARD:0006322,ICD-11,LD28.1,Exact +GARD:0006322,MedDRA,10014316,Exact +GARD:0006322,UMLS,C0013720,Exact +GARD:0006322,MeSH,D004535,Exact +GARD:0006322,ICD-10,Q79.6,Exact +GARD:0006322,SNOMED-CT,398114001,NA +GARD:0006323,SNOMED-CT,445928005,NA +GARD:0006323,Orphanet,97214,Exact +GARD:0006323,MedDRA,10058554,Exact +GARD:0006323,ICD-10,I27.2,NTBT +GARD:0006323,UMLS,C0013743,Exact +GARD:0006329,Orphanet,261,Exact +GARD:0006329,OMIM,616516,BTNT +GARD:0006329,MeSH,D020389,Exact +GARD:0006329,OMIM,612998,BTNT +GARD:0006329,OMIM,300696,BTNT +GARD:0006329,OMIM,181350,BTNT +GARD:0006329,UMLS,C0410189,Exact +GARD:0006329,OMIM,310300,BTNT +GARD:0006329,OMIM,614302,BTNT +GARD:0006329,ICD-11,8C70.2,Exact +GARD:0006329,ICD-10,G71.0,NTBT +GARD:0006329,OMIM,612999,BTNT +GARD:0006329,SNOMED-CT,111508004,NA +GARD:0006332,SNOMED-CT,186499007,NA +GARD:0006332,Orphanet,83600,Exact +GARD:0006332,MedDRA,10052369,Exact +GARD:0006332,ICD-10,A85.8,NTBT +GARD:0006332,UMLS,C0014040,Exact +GARD:0006333,Orphanet,199647,Exact +GARD:0006333,MeSH,D004677,Exact +GARD:0006333,ICD-10,Q01.0,BTNT +GARD:0006333,ICD-10,Q01.1,BTNT +GARD:0006333,MedDRA,10014617,Exact +GARD:0006333,ICD-10,Q01.8,BTNT +GARD:0006333,ICD-10,Q01.2,BTNT +GARD:0006333,ICD-10,Q01.9,BTNT +GARD:0006336,Orphanet,2022,Exact +GARD:0006336,MedDRA,10014663,Exact +GARD:0006336,OMIM,226000,Exact +GARD:0006336,ICD-10,I42.4,Exact +GARD:0006336,ICD-11,BC43.3,Exact +GARD:0006336,UMLS,C0014117,Exact +GARD:0006336,SNOMED-CT,65457005,NA +GARD:0006337,Orphanet,570762,Exact +GARD:0006337,ICD-10,I33.0,NTBT +GARD:0006339,Orphanet,213711,Exact +GARD:0006339,MeSH,D018203,Exact +GARD:0006339,UMLS,C0206630,Exact +GARD:0006339,MedDRA,10057649,Exact +GARD:0006339,ICD-10,C54.1,NTBT +GARD:0006339,SNOMED-CT,699356008,NA +GARD:0006351,SNOMED-CT,24129002,NA +GARD:0006351,Orphanet,3165,Exact +GARD:0006351,ICD-11,4A43.4,Exact +GARD:0006351,OMIM,226350,Exact +GARD:0006351,UMLS,C0264005,Exact +GARD:0006351,ICD-10,M35.4,Exact +GARD:0006351,MedDRA,10014954,Exact +GARD:0006353,SNOMED-CT,443643007,NA +GARD:0006353,Orphanet,251636,Exact +GARD:0006353,UMLS,C0014474,Exact +GARD:0006353,MedDRA,10014967,Exact +GARD:0006353,ICD-10,D43.2,NTBT +GARD:0006357,SNOMED-CT,19138001,NA +GARD:0006357,Orphanet,302,Exact +GARD:0006357,OMIM,305350,BTNT +GARD:0006357,MedDRA,10052339,Exact +GARD:0006357,OMIM,618309,BTNT +GARD:0006357,ICD-10,B07,NTBT +GARD:0006357,OMIM,226400,Exact +GARD:0006357,MeSH,D004819,Exact +GARD:0006357,OMIM,618231,Exact +GARD:0006357,UMLS,C0014522,Exact +GARD:0006357,OMIM,618267,BTNT +GARD:0006360,Orphanet,46487,Exact +GARD:0006360,ICD-10,L12.3,Exact +GARD:0006360,ICD-11,EB43,Exact +GARD:0006360,UMLS,C0079293,Exact +GARD:0006360,SNOMED-CT,2772003,NA +GARD:0006360,MedDRA,10056508,Exact +GARD:0006369,SNOMED-CT,699537002,NA +GARD:0006369,Orphanet,35687,Exact +GARD:0006369,ICD-10,D76.3,NTBT +GARD:0006369,UMLS,C0878675,Exact +GARD:0006369,MeSH,D031249,Exact +GARD:0006369,MedDRA,10060801,Exact +GARD:0006377,SNOMED-CT,403390002,NA +GARD:0006377,Orphanet,90026,Exact +GARD:0006377,ICD-10,I73.8,NTBT +GARD:0006377,UMLS,C0014805,Exact +GARD:0006377,OMIM,133020,Exact +GARD:0006381,SNOMED-CT,26179002,NA +GARD:0006381,Orphanet,1199,Exact +GARD:0006381,ICD-11,LB12.1,Exact +GARD:0006381,UMLS,C0014850,Exact +GARD:0006381,OMIM,189960,Exact +GARD:0006381,MedDRA,10021530,Exact +GARD:0006381,ICD-10,Q39.1,Exact +GARD:0006381,MedDRA,10030146,Exact +GARD:0006381,MeSH,D004933,Exact +GARD:0006381,ICD-10,Q39.0,Exact +GARD:0006383,Orphanet,70482,Exact +GARD:0006383,SNOMED-CT,372138000,NA +GARD:0006383,UMLS,C0014859,Exact +GARD:0006383,UMLS,C0546837,Exact +GARD:0006383,MedDRA,10030155,Exact +GARD:0006383,UMLS,C0152018,Exact +GARD:0006386,SNOMED-CT,190815001,NA +GARD:0006386,Orphanet,91138,Exact +GARD:0006386,UMLS,C0343208,Exact +GARD:0006386,UMLS,C0340992,Exact +GARD:0006386,UMLS,C1852456,Exact +GARD:0006386,ICD-10,D89.1,NTBT +GARD:0006386,UMLS,C0543697,Exact +GARD:0006386,OMIM,123550,Exact +GARD:0006386,ICD-11,4A44.90,Exact +GARD:0006386,MedDRA,10027756,Exact +GARD:0006389,Orphanet,1959,Exact +GARD:0006389,ICD-11,3A20.5,Exact +GARD:0006389,ICD-10,D69.3,NTBT +GARD:0006389,SNOMED-CT,75331009,NA +GARD:0006389,MedDRA,10053873,Exact +GARD:0006389,UMLS,C0272126,Exact +GARD:0006390,Orphanet,319,Exact +GARD:0006390,ICD-10,C40.0,NTBT +GARD:0006390,MedDRA,10015560,Exact +GARD:0006390,ICD-10,C41.2,NTBT +GARD:0006390,ICD-10,C40.1,NTBT +GARD:0006390,ICD-10,C40.3,NTBT +GARD:0006390,ICD-10,C41.4,NTBT +GARD:0006390,ICD-10,C40.2,NTBT +GARD:0006390,ICD-10,C41.3,NTBT +GARD:0006390,OMIM,612219,Exact +GARD:0006390,UMLS,C0553580,Exact +GARD:0006390,SNOMED-CT,307608006,NA +GARD:0006398,SNOMED-CT,61758007,NA +GARD:0006398,Orphanet,93930,Exact +GARD:0006398,ICD-11,LB31.3,Exact +GARD:0006398,MeSH,D001746,Exact +GARD:0006398,ICD-10,Q64.1,Exact +GARD:0006398,UMLS,C0005689,Exact +GARD:0006398,OMIM,600057,NTBT +GARD:0006400,Orphanet,324,Exact +GARD:0006400,MeSH,D000795,Exact +GARD:0006400,UMLS,C0002986,Exact +GARD:0006400,MedDRA,10016016,Exact +GARD:0006400,OMIM,301500,Exact +GARD:0006400,ICD-11,5C56.01,Exact +GARD:0006400,ICD-10,E75.2,NTBT +GARD:0006400,SNOMED-CT,16652001,NA +GARD:0006404,Orphanet,328,Exact +GARD:0006404,ICD-10,D68.2,NTBT +GARD:0006404,UMLS,C0015519,Exact +GARD:0006404,ICD-11,3B14.1,Exact +GARD:0006404,OMIM,227600,Exact +GARD:0006404,SNOMED-CT,76642003,NA +GARD:0006405,Orphanet,599480,Exact +GARD:0006406,Orphanet,1980,Exact +GARD:0006406,OMIM,213600,Exact +GARD:0006406,OMIM,615483,BTNT +GARD:0006406,UMLS,C0393590,Exact +GARD:0006406,ICD-10,G23.8,NTBT +GARD:0006406,OMIM,616413,BTNT +GARD:0006406,OMIM,618824,BTNT +GARD:0006406,MedDRA,10059626,Exact +GARD:0006406,OMIM,615007,BTNT +GARD:0006406,SNOMED-CT,110997000,NA +GARD:0006408,Orphanet,733,Exact +GARD:0006408,MedDRA,10056981,Exact +GARD:0006408,UMLS,C0032580,Exact +GARD:0006408,ICD-10,D12.6,NTBT +GARD:0006408,MeSH,D011125,Exact +GARD:0006408,OMIM,175100,Exact +GARD:0006408,SNOMED-CT,72900001,NA +GARD:0006414,Orphanet,444490,Exact +GARD:0006414,OMIM,118830,BTNT +GARD:0006414,OMIM,615947,BTNT +GARD:0006414,ICD-10,E78.3,NTBT +GARD:0006414,OMIM,207750,BTNT +GARD:0006414,OMIM,238600,BTNT +GARD:0006421,Orphanet,342,Exact +GARD:0006421,ICD-10,E85.0,NTBT +GARD:0006421,UMLS,C0585274,Exact +GARD:0006421,MeSH,D010505,Exact +GARD:0006421,OMIM,134610,BTNT +GARD:0006421,UMLS,C0031069,Exact +GARD:0006421,OMIM,249100,Exact +GARD:0006421,MedDRA,10016207,Exact +GARD:0006421,ICD-11,4A60.0,Exact +GARD:0006421,SNOMED-CT,12579009,NA +GARD:0006425,Orphanet,84,Exact +GARD:0006425,OMIM,603467,BTNT +GARD:0006425,OMIM,227650,Exact +GARD:0006425,OMIM,616435,BTNT +GARD:0006425,OMIM,614082,BTNT +GARD:0006425,OMIM,227646,BTNT +GARD:0006425,OMIM,614083,BTNT +GARD:0006425,OMIM,617247,BTNT +GARD:0006425,OMIM,617244,BTNT +GARD:0006425,OMIM,610832,BTNT +GARD:0006425,OMIM,617243,BTNT +GARD:0006425,OMIM,227645,BTNT +GARD:0006425,MedDRA,10055206,Exact +GARD:0006425,SNOMED-CT,30575002,NA +GARD:0006425,OMIM,609054,BTNT +GARD:0006425,OMIM,609053,BTNT +GARD:0006425,OMIM,300514,BTNT +GARD:0006425,OMIM,613951,BTNT +GARD:0006425,MeSH,D005199,Exact +GARD:0006425,OMIM,615272,BTNT +GARD:0006425,OMIM,617883,BTNT +GARD:0006425,OMIM,600901,BTNT +GARD:0006425,ICD-10,D61.0,NTBT +GARD:0006425,UMLS,C0015625,Exact +GARD:0006425,OMIM,613390,BTNT +GARD:0006426,SNOMED-CT,79935000,NA +GARD:0006426,Orphanet,333,Exact +GARD:0006426,UMLS,C2936785,Exact +GARD:0006426,MeSH,D055577,Exact +GARD:0006426,UMLS,C0268255,Exact +GARD:0006426,ICD-10,E75.2,NTBT +GARD:0006426,OMIM,228000,Exact +GARD:0006426,MeSH,C537075,Exact +GARD:0006427,SNOMED-CT,18690003,NA +GARD:0006427,Orphanet,99906,Exact +GARD:0006427,UMLS,C0015634,Exact +GARD:0006427,MeSH,D005203,Exact +GARD:0006427,MedDRA,10016221,Exact +GARD:0006427,ICD-11,CA70.0,Exact +GARD:0006427,ICD-10,J67.0,Exact +GARD:0006429,SNOMED-CT,83157008,NA +GARD:0006429,Orphanet,466,Exact +GARD:0006429,ICD-11,8E02.2,Exact +GARD:0006429,OMIM,600072,Exact +GARD:0006429,MedDRA,10072077,Exact +GARD:0006429,UMLS,C0206042,Exact +GARD:0006429,MeSH,D034062,Exact +GARD:0006429,ICD-10,A81.8,NTBT +GARD:0006435,SNOMED-CT,70065001,NA +GARD:0006435,Orphanet,1912,Exact +GARD:0006435,ICD-10,Q86.1,Exact +GARD:0006435,MedDRA,10016508,Exact +GARD:0006435,ICD-11,LA07.1,Exact +GARD:0006435,UMLS,C0265372,Exact +GARD:0006435,MeSH,C537922,Exact +GARD:0006444,SNOMED-CT,10623005,NA +GARD:0006444,Orphanet,249,Exact +GARD:0006444,UMLS,C0016063,Exact +GARD:0006444,ICD-10,Q78.1,Exact +GARD:0006444,ICD-11,FB80.0,Exact +GARD:0006444,MeSH,D005357,Exact +GARD:0006444,MedDRA,10016664,Exact +GARD:0006445,SNOMED-CT,82725007,NA +GARD:0006445,Orphanet,337,Exact +GARD:0006445,MeSH,D009221,Exact +GARD:0006445,ICD-10,M61.1,Exact +GARD:0006445,OMIM,135100,Exact +GARD:0006445,UMLS,C0016037,Exact +GARD:0006445,ICD-11,FB31.1,Exact +GARD:0006445,MedDRA,10068715,Exact +GARD:0006447,Orphanet,468726,Exact +GARD:0006447,OMIM,602079,NTBT +GARD:0006447,ICD-10,E88.8,NTBT +GARD:0006450,SNOMED-CT,238092004,NA +GARD:0006450,Orphanet,79292,Exact +GARD:0006450,ICD-10,E78.6,NTBT +GARD:0006450,UMLS,C0342895,Exact +GARD:0006450,MeSH,C538467,Exact +GARD:0006450,OMIM,136120,Exact +GARD:0006455,Orphanet,2044,Exact +GARD:0006455,MeSH,C537062,Exact +GARD:0006455,OMIM,136140,Exact +GARD:0006455,ICD-10,Q87.8,NTBT +GARD:0006455,UMLS,C0729582,Exact +GARD:0006455,SNOMED-CT,312214005,NA +GARD:0006457,SNOMED-CT,205573006,NA +GARD:0006457,Orphanet,2092,Exact +GARD:0006457,UMLS,C0016395,Exact +GARD:0006457,MeSH,D005489,Exact +GARD:0006457,ICD-10,Q82.8,NTBT +GARD:0006457,OMIM,305600,Exact +GARD:0006464,SNOMED-CT,613003,NA +GARD:0006464,Orphanet,908,Exact +GARD:0006464,ICD-10,Q99.2,Exact +GARD:0006464,MedDRA,10017324,Exact +GARD:0006464,UMLS,C0016667,Exact +GARD:0006464,UMLS,C0751156,Exact +GARD:0006464,MeSH,D005600,Exact +GARD:0006464,OMIM,300624,NTBT +GARD:0006464,OMIM,311360,NTBT +GARD:0006464,ICD-11,LD55,Exact +GARD:0006465,Orphanet,2052,Exact +GARD:0006465,OMIM,219000,Exact +GARD:0006465,UMLS,C0265233,Exact +GARD:0006465,OMIM,617666,Exact +GARD:0006465,OMIM,617667,Exact +GARD:0006465,MeSH,D058497,Exact +GARD:0006465,ICD-10,Q87.0,NTBT +GARD:0006465,ICD-11,LD2H.0,Exact +GARD:0006465,SNOMED-CT,204102004,NA +GARD:0006466,Orphanet,2053,Exact +GARD:0006466,OMIM,618436,Exact +GARD:0006466,SNOMED-CT,52616002,NA +GARD:0006466,UMLS,C0265224,Exact +GARD:0006466,OMIM,193700,Exact +GARD:0006466,OMIM,616266,BTNT +GARD:0006466,OMIM,277720,BTNT +GARD:0006466,ICD-10,Q87.0,NTBT +GARD:0006466,MeSH,C535483,Exact +GARD:0006468,Orphanet,95,Exact +GARD:0006468,OMIM,229300,Exact +GARD:0006468,MedDRA,10017374,Exact +GARD:0006468,ICD-10,G11.1,NTBT +GARD:0006468,MeSH,D005621,Exact +GARD:0006468,UMLS,C0016719,Exact +GARD:0006468,OMIM,601992,BTNT +GARD:0006468,ICD-11,8A03.10,Exact +GARD:0006468,SNOMED-CT,10394003,NA +GARD:0006471,Orphanet,2056,Exact +GARD:0006471,UMLS,C0268160,Exact +GARD:0006471,MeSH,C538068,Exact +GARD:0006471,ICD-10,E74.1,NTBT +GARD:0006471,MedDRA,10015487,Exact +GARD:0006471,OMIM,229800,Exact +GARD:0006471,SNOMED-CT,40278002,NA +GARD:0006473,Orphanet,349,Exact +GARD:0006473,ICD-10,E77.1,NTBT +GARD:0006473,UMLS,C0016788,Exact +GARD:0006473,OMIM,230000,Exact +GARD:0006473,MeSH,D005645,Exact +GARD:0006473,SNOMED-CT,64716005,NA +GARD:0006475,Orphanet,272,Exact +GARD:0006475,OMIM,253800,NTBT +GARD:0006475,ICD-10,G71.0,NTBT +GARD:0006475,UMLS,C0410174,Exact +GARD:0006475,SNOMED-CT,111502003,NA +GARD:0006476,Orphanet,24,Exact +GARD:0006476,ICD-10,E88.8,NTBT +GARD:0006476,OMIM,606812,Exact +GARD:0006476,MeSH,C538191,Exact +GARD:0006476,UMLS,C2936826,Exact +GARD:0006476,UMLS,C0342770,Exact +GARD:0006476,SNOMED-CT,237983002,NA +GARD:0006479,SNOMED-CT,238026007,NA +GARD:0006479,Orphanet,79255,Exact +GARD:0006479,OMIM,230500,Exact +GARD:0006479,ICD-10,E75.1,NTBT +GARD:0006481,Orphanet,324636,Exact +GARD:0006481,UMLS,C0301928,Exact +GARD:0006481,ICD-10,D69.2,NTBT +GARD:0006481,SNOMED-CT,275446004,NA +GARD:0006482,SNOMED-CT,60876000,NA +GARD:0006482,Orphanet,79665,Exact +GARD:0006482,ICD-11,LD2D.3,Exact +GARD:0006482,MedDRA,10017727,Exact +GARD:0006482,ICD-10,D12.6,NTBT +GARD:0006482,OMIM,175100,NTBT +GARD:0006482,UMLS,C0017097,Exact +GARD:0006482,MeSH,D005736,Exact +GARD:0006485,Orphanet,52417,Exact +GARD:0006485,UMLS,C0242647,Exact +GARD:0006485,OMIM,137245,Exact +GARD:0006485,ICD-11,XH1V99,Exact +GARD:0006485,ICD-10,C88.4,Exact +GARD:0006485,MedDRA,10060707,Exact +GARD:0006485,SNOMED-CT,445269007,NA +GARD:0006497,SNOMED-CT,86081009,NA +GARD:0006497,Orphanet,63275,Exact +GARD:0006497,ICD-10,L12.8,NTBT +GARD:0006497,MedDRA,10019939,Exact +GARD:0006497,UMLS,C0019343,Exact +GARD:0006497,MeSH,D006559,Exact +GARD:0006497,ICD-11,JA65.10,Exact +GARD:0006498,Orphanet,59305,Exact +GARD:0006498,ICD-11,2C75.0,Exact +GARD:0006498,MedDRA,10061988,Exact +GARD:0006498,UMLS,C1135868,Exact +GARD:0006498,MeSH,D031901,Exact +GARD:0006500,SNOMED-CT,128207002,NA +GARD:0006500,Orphanet,643,Exact +GARD:0006500,OMIM,256850,Exact +GARD:0006500,MeSH,D056768,Exact +GARD:0006500,ICD-10,G60.8,NTBT +GARD:0006506,Orphanet,99725,Exact +GARD:0006506,MeSH,D005877,Exact +GARD:0006506,UMLS,C0017547,Exact +GARD:0006506,ICD-11,5A60.0,NTBT +GARD:0006506,ICD-10,E22.0,Exact +GARD:0006506,OMIM,102200,NTBT +GARD:0006506,MedDRA,10018265,Exact +GARD:0006509,OMIM,135300,Exact +GARD:0006509,SNOMED-CT,109620006,NA +GARD:0006509,UMLS,C0399440,NA +GARD:0006509,UMLS,C4551558,NA +GARD:0006509,GeneticAlliance,8520,NA +GARD:0006509,DiseaseOntology,60466,NA +GARD:0006513,Orphanet,182067,Exact +GARD:0006513,OMIM,613029,BTNT +GARD:0006513,OMIM,613028,BTNT +GARD:0006513,OMIM,613033,BTNT +GARD:0006513,OMIM,613030,BTNT +GARD:0006513,OMIM,613031,BTNT +GARD:0006513,MeSH,D005910,Exact +GARD:0006513,UMLS,C0017638,Exact +GARD:0006513,OMIM,613032,BTNT +GARD:0006513,OMIM,137800,Exact +GARD:0006513,MedDRA,10018338,Exact +GARD:0006513,OMIM,607248,BTNT +GARD:0006513,SNOMED-CT,393564001,NA +GARD:0006514,SNOMED-CT,1156413005,NA +GARD:0006514,Orphanet,251582,Exact +GARD:0006514,UMLS,C0334576,Exact +GARD:0006514,ICD-10,C71.0,NTBT +GARD:0006514,MedDRA,10066254,Exact +GARD:0006519,SNOMED-CT,43763009,NA +GARD:0006519,Orphanet,221098,Exact +GARD:0006519,ICD-10,G52.1,NTBT +GARD:0006519,UMLS,C0154731,Exact +GARD:0006519,MedDRA,10018391,Exact +GARD:0006520,Orphanet,466026,Exact +GARD:0006520,OMIM,300908,NTBT +GARD:0006520,ICD-10,D55.0,NTBT +GARD:0006521,Orphanet,35710,Exact +GARD:0006521,ICD-10,E74.3,NTBT +GARD:0006521,OMIM,606824,Exact +GARD:0006521,MedDRA,10066388,Exact +GARD:0006521,ICD-11,5C61.0,Exact +GARD:0006521,UMLS,C0268186,Exact +GARD:0006521,SNOMED-CT,27943000,NA +GARD:0006522,SNOMED-CT,360416003,NA +GARD:0006522,Orphanet,25,Exact +GARD:0006522,MeSH,C536833,Exact +GARD:0006522,OMIM,231670,Exact +GARD:0006522,UMLS,C0268595,Exact +GARD:0006522,ICD-10,E72.3,NTBT +GARD:0006523,SNOMED-CT,22886006,NA +GARD:0006523,Orphanet,26791,Exact +GARD:0006523,ICD-10,E71.3,NTBT +GARD:0006523,OMIM,231680,Exact +GARD:0006523,UMLS,C0268596,Exact +GARD:0006523,UMLS,C2931346,Exact +GARD:0006528,Orphanet,368,Exact +GARD:0006528,UMLS,C0017924,Exact +GARD:0006528,MedDRA,10018462,Exact +GARD:0006528,OMIM,232600,Exact +GARD:0006528,MeSH,C537276,Exact +GARD:0006528,ICD-10,E74.0,NTBT +GARD:0006528,UMLS,C2936916,Exact +GARD:0006528,MeSH,D006012,Exact +GARD:0006528,SNOMED-CT,55912009,NA +GARD:0006529,SNOMED-CT,29291001,NA +GARD:0006529,Orphanet,369,Exact +GARD:0006529,MedDRA,10053240,Exact +GARD:0006529,ICD-10,E74.0,NTBT +GARD:0006529,OMIM,232700,Exact +GARD:0006529,UMLS,C0017925,Exact +GARD:0006542,SNOMED-CT,1515008,NA +GARD:0006542,Orphanet,73,Exact +GARD:0006542,UMLS,C0029438,Exact +GARD:0006542,ICD-10,M89.5,NTBT +GARD:0006542,MedDRA,10071283,Exact +GARD:0006542,OMIM,123880,Exact +GARD:0006543,Orphanet,2500,Exact +GARD:0006543,UMLS,C0406584,Exact +GARD:0006543,ICD-10,L90.8,NTBT +GARD:0006543,MeSH,C538187,Exact +GARD:0006543,OMIM,201200,Exact +GARD:0006543,UMLS,C0238590,Exact +GARD:0006543,SNOMED-CT,238872007,NA +GARD:0006544,Orphanet,99920,Exact +GARD:0006544,MedDRA,10066260,Exact +GARD:0006544,ICD-10,T86.0,NTBT +GARD:0006544,UMLS,C0856825,Exact +GARD:0006544,SNOMED-CT,402355000,NA +GARD:0006550,SNOMED-CT,32985001,NA +GARD:0006550,Orphanet,380,Exact +GARD:0006550,MeSH,C537300,Exact +GARD:0006550,OMIM,175700,Exact +GARD:0006550,UMLS,C0265306,Exact +GARD:0006550,ICD-10,Q87.0,NTBT +GARD:0006550,MedDRA,10053878,Exact +GARD:0006554,SNOMED-CT,40956001,NA +GARD:0006554,Orphanet,2103,Exact +GARD:0006554,UMLS,C0018378,Exact +GARD:0006554,ICD-10,G61.0,Exact +GARD:0006554,MeSH,D020275,Exact +GARD:0006554,MedDRA,10018767,Exact +GARD:0006556,Orphanet,414,Exact +GARD:0006556,MeSH,C537132,Exact +GARD:0006556,UMLS,C0599035,Exact +GARD:0006556,ICD-10,E72.4,NTBT +GARD:0006556,UMLS,C0018425,Exact +GARD:0006556,OMIM,258870,Exact +GARD:0006556,SNOMED-CT,276426004,NA +GARD:0006558,Orphanet,330,Exact +GARD:0006558,OMIM,234000,Exact +GARD:0006558,UMLS,C0015526,Exact +GARD:0006558,ICD-10,D68.2,NTBT +GARD:0006558,SNOMED-CT,43217004,NA +GARD:0006559,SNOMED-CT,79468000,NA +GARD:0006559,Orphanet,2841,Exact +GARD:0006559,ICD-10,Q82.8,NTBT +GARD:0006559,OMIM,169600,Exact +GARD:0006559,UMLS,C0085106,Exact +GARD:0006560,Orphanet,58017,Exact +GARD:0006560,MeSH,D007943,Exact +GARD:0006560,UMLS,C0023443,Exact +GARD:0006560,MedDRA,10019053,Exact +GARD:0006560,ICD-10,C91.4,NTBT +GARD:0006560,ICD-11,2A82.2,Exact +GARD:0006560,SNOMED-CT,118613001,NA +GARD:0006564,Orphanet,157850,Exact +GARD:0006564,ICD-10,G23.0,Exact +GARD:0006564,UMLS,C0018523,Exact +GARD:0006564,OMIM,234200,Exact +GARD:0006564,MeSH,D006211,Exact +GARD:0006564,ICD-11,5C64.10,NTBT +GARD:0006564,SNOMED-CT,2992000,NA +GARD:0006568,SNOMED-CT,205548006,NA +GARD:0006568,Orphanet,457,Exact +GARD:0006568,MedDRA,10019163,Exact +GARD:0006568,ICD-11,EC20.02,NTBT +GARD:0006568,OMIM,242500,Exact +GARD:0006568,UMLS,C0239849,Exact +GARD:0006568,ICD-10,Q80.4,Exact +GARD:0006568,UMLS,C0598226,Exact +GARD:0006569,SNOMED-CT,80902009,NA +GARD:0006569,Orphanet,2116,Exact +GARD:0006569,UMLS,C0018609,Exact +GARD:0006569,MedDRA,10019165,Exact +GARD:0006569,ICD-10,E72.0,NTBT +GARD:0006569,MeSH,D006250,Exact +GARD:0006569,OMIM,234500,Exact +GARD:0006571,Orphanet,1071,Exact +GARD:0006571,MeSH,C535289,Exact +GARD:0006571,ICD-10,Q82.4,NTBT +GARD:0006571,UMLS,C1785148,Exact +GARD:0006571,OMIM,106260,Exact +GARD:0006571,SNOMED-CT,55821006,NA +GARD:0006584,Orphanet,251365,Exact +GARD:0006584,UMLS,C0019034,Exact +GARD:0006584,ICD-10,D57.2,NTBT +GARD:0006584,SNOMED-CT,35434009,NA +GARD:0006584,MedDRA,10057072,Exact +GARD:0006588,SNOMED-CT,373421000,NA +GARD:0006588,Orphanet,90038,Exact +GARD:0006588,ICD-10,D58.8,NTBT +GARD:0006588,OMIM,235400,NTBT +GARD:0006589,SNOMED-CT,398250003,NA +GARD:0006589,Orphanet,540,Exact +GARD:0006589,OMIM,613101,BTNT +GARD:0006589,OMIM,267700,Exact +GARD:0006589,OMIM,603553,BTNT +GARD:0006589,ICD-10,D76.1,NTBT +GARD:0006589,OMIM,608898,BTNT +GARD:0006589,MedDRA,10070904,Exact +GARD:0006589,UMLS,C0272199,Exact +GARD:0006589,OMIM,618998,BTNT +GARD:0006589,OMIM,603552,BTNT +GARD:0006591,SNOMED-CT,28293008,NA +GARD:0006591,Orphanet,98878,Exact +GARD:0006591,ICD-10,D66,Exact +GARD:0006591,MeSH,D006467,Exact +GARD:0006591,UMLS,C3494187,Exact +GARD:0006591,ICD-11,3B10.0,Exact +GARD:0006591,UMLS,C0019069,Exact +GARD:0006591,OMIM,306700,Exact +GARD:0006591,MedDRA,10016080,Exact +GARD:0006594,SNOMED-CT,109994006,NA +GARD:0006594,Orphanet,3318,Exact +GARD:0006594,MeSH,D013920,Exact +GARD:0006594,OMIM,601977,NTBT +GARD:0006594,OMIM,614521,NTBT +GARD:0006594,OMIM,187950,NTBT +GARD:0006594,UMLS,C0040028,Exact +GARD:0006594,ICD-10,D47.3,Exact +GARD:0006594,MedDRA,10015493,Exact +GARD:0006594,ICD-11,3B63.1Z,NTBT +GARD:0006608,Orphanet,210159,Exact +GARD:0006608,OMIM,114550,NTBT +GARD:0006608,ICD-10,C22.0,NTBT +GARD:0006611,Orphanet,444116,Exact +GARD:0006611,UMLS,C0206246,Exact +GARD:0006618,Orphanet,228357,Exact +GARD:0006618,OMIM,609055,Exact +GARD:0006618,ICD-10,E75.4,NTBT +GARD:0006618,UMLS,C1836841,Exact +GARD:0006619,Orphanet,79273,Exact +GARD:0006619,ICD-10,E80.2,NTBT +GARD:0006619,OMIM,121300,Exact +GARD:0006619,MeSH,D046349,Exact +GARD:0006619,UMLS,C0162531,Exact +GARD:0006619,MedDRA,10019866,Exact +GARD:0006619,SNOMED-CT,7425008,NA +GARD:0006621,Orphanet,288,Exact +GARD:0006621,OMIM,611804,BTNT +GARD:0006621,MeSH,D004612,Exact +GARD:0006621,OMIM,617948,BTNT +GARD:0006621,OMIM,130600,BTNT +GARD:0006621,MedDRA,10014490,Exact +GARD:0006621,OMIM,235370,BTNT +GARD:0006621,ICD-10,D58.1,Exact +GARD:0006621,ICD-11,3A10.2,Exact +GARD:0006621,UMLS,C0013902,Exact +GARD:0006621,SNOMED-CT,191169008,NA +GARD:0006622,Orphanet,469,Exact +GARD:0006622,ICD-10,E74.1,NTBT +GARD:0006622,OMIM,229600,Exact +GARD:0006622,MeSH,D005633,Exact +GARD:0006622,UMLS,C0016751,Exact +GARD:0006622,MedDRA,10019878,Exact +GARD:0006622,SNOMED-CT,20052008,NA +GARD:0006626,Orphanet,774,Exact +GARD:0006626,MedDRA,10019883,Exact +GARD:0006626,OMIM,601101,BTNT +GARD:0006626,ICD-11,LA90.00,Exact +GARD:0006626,ICD-10,I78.0,Exact +GARD:0006626,OMIM,615506,BTNT +GARD:0006626,OMIM,187300,Exact +GARD:0006626,OMIM,600376,BTNT +GARD:0006626,SNOMED-CT,21877004,NA +GARD:0006626,UMLS,C0039445,Exact +GARD:0006626,OMIM,610655,BTNT +GARD:0006632,Orphanet,676,Exact +GARD:0006632,OMIM,167800,Exact +GARD:0006632,UMLS,C0238339,Exact +GARD:0006632,ICD-10,K86.1,NTBT +GARD:0006632,ICD-11,DC32.2,Exact +GARD:0006632,UMLS,C0341474,Exact +GARD:0006632,SNOMED-CT,235956004,NA +GARD:0006635,SNOMED-CT,397734008,NA +GARD:0006635,Orphanet,36386,Exact +GARD:0006635,OMIM,613708,BTNT +GARD:0006635,OMIM,613640,BTNT +GARD:0006635,ICD-11,8C21.0,Exact +GARD:0006635,OMIM,162400,BTNT +GARD:0006635,ICD-10,G60.8,NTBT +GARD:0006635,OMIM,615632,BTNT +GARD:0006635,UMLS,C0020071,Exact +GARD:0006637,Orphanet,685,Exact +GARD:0006637,ICD-11,8B44.0,Exact +GARD:0006637,MedDRA,10019903,Exact +GARD:0006637,UMLS,C2931355,Exact +GARD:0006637,UMLS,C0037773,Exact +GARD:0006637,ICD-10,G11.4,Exact +GARD:0006637,SNOMED-CT,39912006,NA +GARD:0006639,SNOMED-CT,55995005,NA +GARD:0006639,Orphanet,822,Exact +GARD:0006639,MeSH,C536356,Exact +GARD:0006639,ICD-10,D58.0,Exact +GARD:0006639,OMIM,612653,BTNT +GARD:0006639,MedDRA,10019904,Exact +GARD:0006639,MeSH,D013103,Exact +GARD:0006639,ICD-11,3A10.Y,NTBT +GARD:0006639,UMLS,C0037889,Exact +GARD:0006639,OMIM,616649,BTNT +GARD:0006639,OMIM,270970,BTNT +GARD:0006639,OMIM,182900,Exact +GARD:0006639,OMIM,612690,BTNT +GARD:0006639,UMLS,C0221409,Exact +GARD:0006643,Orphanet,79430,Exact +GARD:0006643,ICD-10,E70.3,NTBT +GARD:0006643,OMIM,614076,BTNT +GARD:0006643,OMIM,614171,BTNT +GARD:0006643,UMLS,C0079504,Exact +GARD:0006643,OMIM,203300,BTNT +GARD:0006643,OMIM,614074,BTNT +GARD:0006643,MedDRA,10071775,Exact +GARD:0006643,OMIM,614077,BTNT +GARD:0006643,OMIM,614075,BTNT +GARD:0006643,OMIM,608233,BTNT +GARD:0006643,OMIM,614073,BTNT +GARD:0006643,OMIM,619172,BTNT +GARD:0006643,OMIM,614072,BTNT +GARD:0006643,SNOMED-CT,9311003,NA +GARD:0006643,OMIM,617050,BTNT +GARD:0006649,Orphanet,1930,Exact +GARD:0006649,UMLS,C0019385,Exact +GARD:0006649,OMIM,616532,BTNT +GARD:0006649,UMLS,C0276226,Exact +GARD:0006649,OMIM,617900,BTNT +GARD:0006649,OMIM,610551,Exact +GARD:0006649,OMIM,614850,BTNT +GARD:0006649,OMIM,614849,BTNT +GARD:0006649,ICD-11,1F00.21,Exact +GARD:0006649,ICD-10,B00.4+,Exact +GARD:0006649,OMIM,613002,BTNT +GARD:0006649,ICD-10,G05.1*,Exact +GARD:0006649,SNOMED-CT,428638009,NA +GARD:0006657,SNOMED-CT,716771000,NA +GARD:0006657,Orphanet,396,Exact +GARD:0006657,ICD-11,8A06.21,Exact +GARD:0006657,ICD-10,G25.3,NTBT +GARD:0006660,Orphanet,388,Exact +GARD:0006660,OMIM,600156,BTNT +GARD:0006660,ICD-11,LB16.1,Exact +GARD:0006660,OMIM,600155,BTNT +GARD:0006660,ICD-10,Q43.1,Exact +GARD:0006660,OMIM,613712,BTNT +GARD:0006660,MeSH,D006627,Exact +GARD:0006660,OMIM,608462,BTNT +GARD:0006660,UMLS,C0019569,Exact +GARD:0006660,OMIM,606874,BTNT +GARD:0006660,OMIM,611644,BTNT +GARD:0006660,OMIM,613711,BTNT +GARD:0006660,MedDRA,10010539,Exact +GARD:0006660,UMLS,C3661523,Exact +GARD:0006660,OMIM,606875,BTNT +GARD:0006660,OMIM,142623,BTNT +GARD:0006660,SNOMED-CT,204739008,NA +GARD:0006661,SNOMED-CT,410058007,NA +GARD:0006661,Orphanet,2157,Exact +GARD:0006661,UMLS,C0268642,Exact +GARD:0006661,UMLS,C0220992,Exact +GARD:0006661,OMIM,235800,Exact +GARD:0006661,ICD-10,E70.8,NTBT +GARD:0006661,MeSH,C538320,Exact +GARD:0006661,ICD-11,5C50.20,Exact +GARD:0006665,Orphanet,2162,Exact +GARD:0006665,OMIM,142945,BTNT +GARD:0006665,MeSH,D016142,Exact +GARD:0006665,OMIM,142946,BTNT +GARD:0006665,ICD-11,LA05.2,Exact +GARD:0006665,OMIM,605934,BTNT +GARD:0006665,OMIM,609408,BTNT +GARD:0006665,OMIM,610829,BTNT +GARD:0006665,UMLS,C0079541,Exact +GARD:0006665,OMIM,612530,NTBT +GARD:0006665,OMIM,236100,Exact +GARD:0006665,OMIM,157170,BTNT +GARD:0006665,OMIM,614226,BTNT +GARD:0006665,OMIM,609637,BTNT +GARD:0006665,UMLS,C3711749,Exact +GARD:0006665,OMIM,610828,BTNT +GARD:0006665,ICD-10,Q04.2,Exact +GARD:0006665,OMIM,147250,BTNT +GARD:0006665,MedDRA,10056304,Exact +GARD:0006665,SNOMED-CT,30915001,NA +GARD:0006666,SNOMED-CT,19092004,NA +GARD:0006666,Orphanet,392,Exact +GARD:0006666,ICD-10,Q87.2,NTBT +GARD:0006666,MeSH,C535326,Exact +GARD:0006666,OMIM,142900,Exact +GARD:0006666,MedDRA,10050469,Exact +GARD:0006666,UMLS,C0265264,Exact +GARD:0006667,Orphanet,394,Exact +GARD:0006667,MedDRA,10071093,Exact +GARD:0006667,UMLS,C0751202,Exact +GARD:0006667,ICD-10,E72.1,NTBT +GARD:0006667,OMIM,236200,Exact +GARD:0006667,SNOMED-CT,24308003,NA +GARD:0006670,Orphanet,91413,Exact +GARD:0006670,UMLS,C1840475,Exact +GARD:0006670,OMIM,143000,Exact +GARD:0006670,ICD-10,G90.2,NTBT +GARD:0006670,SNOMED-CT,770626007,NA +GARD:0006675,Orphanet,580,Exact +GARD:0006675,UMLS,C0026705,Exact +GARD:0006675,ICD-10,E76.1,Exact +GARD:0006675,ICD-11,5C56.31,Exact +GARD:0006675,UMLS,C2718304,Exact +GARD:0006675,MedDRA,10056889,Exact +GARD:0006675,MeSH,D016532,Exact +GARD:0006675,OMIM,309900,Exact +GARD:0006675,SNOMED-CT,70737009,NA +GARD:0006677,Orphanet,399,Exact +GARD:0006677,ICD-10,G10,Exact +GARD:0006677,ICD-11,8A01.10,Exact +GARD:0006677,MedDRA,10070668,Exact +GARD:0006677,UMLS,C0020179,Exact +GARD:0006677,MeSH,D006816,Exact +GARD:0006677,OMIM,143100,Exact +GARD:0006677,SNOMED-CT,58756001,NA +GARD:0006681,Orphanet,2177,Exact +GARD:0006681,ICD-11,LA05.62,Exact +GARD:0006681,UMLS,C0020225,Exact +GARD:0006681,MeSH,D006832,Exact +GARD:0006681,ICD-10,Q04.3,NTBT +GARD:0006681,SNOMED-CT,30023002,NA +GARD:0006682,SNOMED-CT,47032000,NA +GARD:0006682,Orphanet,2185,Exact +GARD:0006682,ICD-10,Q03.0,BTNT +GARD:0006682,ICD-10,Q03.9,BTNT +GARD:0006682,OMIM,615219,BTNT +GARD:0006682,MedDRA,10010506,Exact +GARD:0006682,UMLS,C0020256,Exact +GARD:0006682,OMIM,236600,BTNT +GARD:0006682,ICD-10,Q03.8,BTNT +GARD:0006682,ICD-10,Q03.1,BTNT +GARD:0006683,Orphanet,2189,Exact +GARD:0006683,OMIM,614120,BTNT +GARD:0006683,OMIM,236680,BTNT +GARD:0006683,SNOMED-CT,721232000,NA +GARD:0006683,ICD-10,Q87.8,NTBT +GARD:0006683,MeSH,C536079,Exact +GARD:0006683,UMLS,C2931104,Exact +GARD:0006703,Orphanet,412,Exact +GARD:0006703,UMLS,C0020479,Exact +GARD:0006703,SNOMED-CT,398796005,NA +GARD:0006703,ICD-10,E78.2,NTBT +GARD:0006703,MedDRA,10060751,Exact +GARD:0006703,OMIM,617347,Exact +GARD:0006703,MeSH,D006952,Exact +GARD:0006704,Orphanet,530849,Exact +GARD:0006704,OMIM,144650,Exact +GARD:0006704,ICD-10,E78.3,NTBT +GARD:0006710,SNOMED-CT,717181004,NA +GARD:0006710,Orphanet,79101,Exact +GARD:0006710,MedDRA,10058512,Exact +GARD:0006710,MedDRA,10058514,Exact +GARD:0006710,UMLS,C0268530,Exact +GARD:0006710,ICD-10,E72.5,NTBT +GARD:0006710,OMIM,239510,Exact +GARD:0006710,UMLS,C2931835,Exact +GARD:0006710,MeSH,C538385,Exact +GARD:0006724,SNOMED-CT,205468002,NA +GARD:0006724,Orphanet,429,Exact +GARD:0006724,ICD-10,Q77.4,NTBT +GARD:0006724,UMLS,C0410529,Exact +GARD:0006724,MedDRA,10020967,Exact +GARD:0006724,ICD-11,LD24.01,Exact +GARD:0006724,OMIM,146000,Exact +GARD:0006725,Orphanet,36412,Exact +GARD:0006725,ICD-11,4A44.91,Exact +GARD:0006725,ICD-10,M31.8,NTBT +GARD:0006725,SNOMED-CT,239945009,NA +GARD:0006729,SNOMED-CT,82732003,NA +GARD:0006729,Orphanet,681,Exact +GARD:0006729,ICD-11,8C74.10,Exact +GARD:0006729,ICD-10,G72.3,NTBT +GARD:0006729,MeSH,D020514,Exact +GARD:0006729,OMIM,613345,BTNT +GARD:0006729,OMIM,170400,Exact +GARD:0006729,UMLS,C0238358,Exact +GARD:0006729,UMLS,C0238357,Exact +GARD:0006734,Orphanet,436,Exact +GARD:0006734,OMIM,146300,BTNT +GARD:0006734,OMIM,241500,BTNT +GARD:0006734,MeSH,D007014,Exact +GARD:0006734,MedDRA,10049933,Exact +GARD:0006734,UMLS,C0020630,Exact +GARD:0006734,ICD-10,E83.3,NTBT +GARD:0006734,OMIM,241510,BTNT +GARD:0006734,SNOMED-CT,190859005,NA +GARD:0006735,Orphanet,437,Exact +GARD:0006735,ICD-10,E83.3,NTBT +GARD:0006735,ICD-11,5C63.22,Exact +GARD:0006735,UMLS,C2363065,Exact +GARD:0006735,UMLS,C3536983,Exact +GARD:0006735,MedDRA,10060873,Exact +GARD:0006735,UMLS,C1704375,Exact +GARD:0006737,OMIM,312000,Exact +GARD:0006737,Orphanet,90695,NTBT +GARD:0006737,DiseaseOntology,111779,NA +GARD:0006737,SNOMED-CT,237683004,NA +GARD:0006737,GeneticAlliance,5560,NA +GARD:0006737,UMLS,C0342376,NA +GARD:0006739,SNOMED-CT,62067003,NA +GARD:0006739,Orphanet,2248,Exact +GARD:0006739,OMIM,614435,BTNT +GARD:0006739,MedDRA,10021076,Exact +GARD:0006739,MeSH,D018636,Exact +GARD:0006739,ICD-10,Q23.4,Exact +GARD:0006739,ICD-11,LA89.3,Exact +GARD:0006739,OMIM,241550,Exact +GARD:0006739,UMLS,C0152101,Exact +GARD:0006749,Orphanet,576,Exact +GARD:0006749,ICD-10,E77.0,NTBT +GARD:0006749,UMLS,C0020725,Exact +GARD:0006749,UMLS,C2931894,Exact +GARD:0006749,OMIM,252500,Exact +GARD:0006749,MeSH,C538602,Exact +GARD:0006749,SNOMED-CT,70199000,NA +GARD:0006757,Orphanet,1676,Exact +GARD:0006757,ICD-10,E25.7,NTBT +GARD:0006757,SNOMED-CT,93059006,NA +GARD:0006760,Orphanet,85193,Exact +GARD:0006760,UMLS,C0264080,Exact +GARD:0006760,ICD-10,M81.5,NTBT +GARD:0006760,OMIM,259750,BTNT +GARD:0006760,OMIM,615221,BTNT +GARD:0006760,SNOMED-CT,240156000,NA +GARD:0006763,Orphanet,99931,Exact +GARD:0006763,ICD-10,J99.8*,NTBT +GARD:0006763,OMIM,235500,BTNT +GARD:0006763,UMLS,C0020807,Exact +GARD:0006763,MeSH,C536281,Exact +GARD:0006763,ICD-11,CB04.30,Exact +GARD:0006763,OMIM,178550,Exact +GARD:0006763,ICD-10,E83.1+,NTBT +GARD:0006763,SNOMED-CT,40527005,NA +GARD:0006778,SNOMED-CT,367520004,NA +GARD:0006778,Orphanet,464,Exact +GARD:0006778,UMLS,C0022283,Exact +GARD:0006778,OMIM,308300,Exact +GARD:0006778,ICD-10,Q82.3,Exact +GARD:0006778,ICD-11,LD27.00,Exact +GARD:0006778,UMLS,C2930820,Exact +GARD:0006778,MeSH,D007184,Exact +GARD:0006778,UMLS,C0021171,Exact +GARD:0006779,Orphanet,70590,Exact +GARD:0006779,ICD-10,P28.4,BTNT +GARD:0006779,SNOMED-CT,724229002,NA +GARD:0006791,Orphanet,263479,Exact +GARD:0006791,ICD-10,H20.8,NTBT +GARD:0006791,UMLS,C0016782,Exact +GARD:0006791,MedDRA,10017406,Exact +GARD:0006791,SNOMED-CT,11226001,NA +GARD:0006793,Orphanet,84142,Exact +GARD:0006793,ICD-10,G71.1,NTBT +GARD:0006793,ICD-11,8C71.4,Exact +GARD:0006793,UMLS,C0751919,Exact +GARD:0006793,UMLS,C0242287,Exact +GARD:0006793,SNOMED-CT,80138003,NA +GARD:0006795,SNOMED-CT,253336000,NA +GARD:0006795,Orphanet,97548,Exact +GARD:0006795,UMLS,C0175707,Exact +GARD:0006795,ICD-10,Q20.6,NTBT +GARD:0006795,OMIM,208530,Exact +GARD:0006795,MedDRA,10068335,Exact +GARD:0006796,Orphanet,1540,Exact +GARD:0006796,OMIM,123150,Exact +GARD:0006796,ICD-10,Q87.8,NTBT +GARD:0006796,MeSH,C537559,Exact +GARD:0006796,UMLS,C0795998,Exact +GARD:0006796,SNOMED-CT,709105005,NA +GARD:0006797,Orphanet,79139,Exact +GARD:0006797,ICD-10,A83.0,Exact +GARD:0006797,MedDRA,10014596,Exact +GARD:0006797,ICD-11,1C85,Exact +GARD:0006797,UMLS,C0014057,Exact +GARD:0006797,MeSH,D004672,Exact +GARD:0006797,SNOMED-CT,52947006,NA +GARD:0006798,SNOMED-CT,61367005,NA +GARD:0006798,Orphanet,2311,Exact +GARD:0006798,UMLS,C2931020,Exact +GARD:0006798,MeSH,C535781,Exact +GARD:0006798,UMLS,C0265343,Exact +GARD:0006798,OMIM,609813,BTNT +GARD:0006798,ICD-10,Q76.8,NTBT +GARD:0006798,OMIM,613686,BTNT +GARD:0006798,OMIM,277300,BTNT +GARD:0006798,OMIM,616566,BTNT +GARD:0006798,MeSH,C537565,Exact +GARD:0006798,OMIM,608681,BTNT +GARD:0006800,Orphanet,2314,Exact +GARD:0006800,UMLS,C3489795,Exact +GARD:0006800,UMLS,C3887645,Exact +GARD:0006800,OMIM,147060,Exact +GARD:0006800,ICD-10,D82.4,NTBT +GARD:0006800,UMLS,C2936739,Exact +GARD:0006800,SNOMED-CT,50926003,NA +GARD:0006801,Orphanet,98757,Exact +GARD:0006801,ICD-10,G11.8,NTBT +GARD:0006801,UMLS,C0024408,Exact +GARD:0006801,OMIM,109150,Exact +GARD:0006801,SNOMED-CT,91952008,NA +GARD:0006802,Orphanet,475,Exact +GARD:0006802,OMIM,616490,BTNT +GARD:0006802,OMIM,617761,BTNT +GARD:0006802,OMIM,614464,BTNT +GARD:0006802,OMIM,617121,BTNT +GARD:0006802,OMIM,618161,BTNT +GARD:0006802,OMIM,614970,BTNT +GARD:0006802,OMIM,615636,BTNT +GARD:0006802,OMIM,616654,BTNT +GARD:0006802,OMIM,614615,BTNT +GARD:0006802,OMIM,619185,BTNT +GARD:0006802,OMIM,614424,BTNT +GARD:0006802,OMIM,616784,BTNT +GARD:0006802,ICD-10,Q04.3,NTBT +GARD:0006802,SNOMED-CT,716997004,NA +GARD:0006802,OMIM,616781,BTNT +GARD:0006802,OMIM,617120,BTNT +GARD:0006802,OMIM,213300,Exact +GARD:0006802,OMIM,617622,BTNT +GARD:0006802,ICD-11,LD20.00,Exact +GARD:0006802,OMIM,612291,BTNT +GARD:0006802,OMIM,610688,BTNT +GARD:0006802,OMIM,614173,BTNT +GARD:0006805,SNOMED-CT,1212005,NA +GARD:0006805,Orphanet,93672,Exact +GARD:0006805,UMLS,C0263666,Exact +GARD:0006805,ICD-11,4A41.01,Exact +GARD:0006805,MedDRA,10008521,Exact +GARD:0006805,UMLS,C2931785,Exact +GARD:0006805,ICD-10,M33.0,Exact +GARD:0006805,MeSH,C538250,Exact +GARD:0006807,Orphanet,2176,Exact +GARD:0006807,OMIM,228600,NTBT +GARD:0006807,ICD-10,E78.8,NTBT +GARD:0006807,SNOMED-CT,238867003,NA +GARD:0006808,Orphanet,307,Exact +GARD:0006808,OMIM,607628,NTBT +GARD:0006808,OMIM,608816,BTNT +GARD:0006808,OMIM,613060,NTBT +GARD:0006808,UMLS,C0270853,Exact +GARD:0006808,MeSH,D020190,Exact +GARD:0006808,OMIM,607682,NTBT +GARD:0006808,ICD-11,8A61.30,Exact +GARD:0006808,OMIM,611136,NTBT +GARD:0006808,MedDRA,10071082,Exact +GARD:0006808,OMIM,611364,BTNT +GARD:0006808,ICD-10,G40.3,NTBT +GARD:0006808,OMIM,254770,Exact +GARD:0006808,OMIM,617924,BTNT +GARD:0006808,OMIM,604827,NTBT +GARD:0006808,OMIM,614280,BTNT +GARD:0006808,SNOMED-CT,6204001,NA +GARD:0006810,SNOMED-CT,313426007,NA +GARD:0006810,Orphanet,2322,Exact +GARD:0006810,MeSH,C537705,Exact +GARD:0006810,OMIM,147920,Exact +GARD:0006810,OMIM,300867,BTNT +GARD:0006810,UMLS,C0796004,Exact +GARD:0006810,ICD-10,Q87.0,NTBT +GARD:0006810,MedDRA,10063935,Exact +GARD:0006814,Orphanet,33276,Exact +GARD:0006814,ICD-10,C46.2,BTNT +GARD:0006814,MeSH,D012514,Exact +GARD:0006814,ICD-10,C46.7,BTNT +GARD:0006814,UMLS,C0036220,Exact +GARD:0006814,OMIM,148000,BTNT +GARD:0006814,ICD-10,C46.0,BTNT +GARD:0006814,ICD-10,C46.8,BTNT +GARD:0006814,ICD-10,C46.9,BTNT +GARD:0006814,ICD-10,C46.1,BTNT +GARD:0006814,ICD-10,C46.3,BTNT +GARD:0006814,MedDRA,10023284,Exact +GARD:0006814,SNOMED-CT,109385007,NA +GARD:0006816,Orphanet,2331,Exact +GARD:0006816,OMIM,611775,Exact +GARD:0006816,SNOMED-CT,75053002,NA +GARD:0006816,MedDRA,10023320,Exact +GARD:0006816,UMLS,C0026691,Exact +GARD:0006816,ICD-10,M30.3,Exact +GARD:0006816,ICD-11,4A44.5,Exact +GARD:0006817,Orphanet,480,Exact +GARD:0006817,MeSH,D007625,Exact +GARD:0006817,MedDRA,10048804,Exact +GARD:0006817,ICD-10,H49.8,NTBT +GARD:0006817,OMIM,530000,Exact +GARD:0006817,UMLS,C0022541,Exact +GARD:0006817,SNOMED-CT,25792000,NA +GARD:0006818,SNOMED-CT,230253001,NA +GARD:0006818,Orphanet,481,Exact +GARD:0006818,MedDRA,10068600,Exact +GARD:0006818,UMLS,C0752353,Exact +GARD:0006818,ICD-10,G12.2,NTBT +GARD:0006818,OMIM,313200,Exact +GARD:0006818,UMLS,C1839259,Exact +GARD:0006818,UMLS,C0393547,Exact +GARD:0006821,SNOMED-CT,403824007,NA +GARD:0006821,Orphanet,587,Exact +GARD:0006821,UMLS,C1321489,Exact +GARD:0006821,ICD-10,L72.8,NTBT +GARD:0006821,MeSH,D055653,Exact +GARD:0006821,OMIM,158320,Exact +GARD:0006821,MedDRA,10063042,Exact +GARD:0006829,Orphanet,2340,Exact +GARD:0006829,UMLS,C0343057,Exact +GARD:0006829,OMIM,604093,NTBT +GARD:0006829,ICD-10,Q82.8,NTBT +GARD:0006829,MeSH,C536159,Exact +GARD:0006829,OMIM,308800,BTNT +GARD:0006829,OMIM,612843,BTNT +GARD:0006829,SNOMED-CT,238626006,NA +GARD:0006830,Orphanet,415286,Exact +GARD:0006830,UMLS,C0022610,Exact +GARD:0006830,ICD-10,P57.9,NTBT +GARD:0006834,Orphanet,50918,Exact +GARD:0006834,ICD-10,I88.1,NTBT +GARD:0006834,UMLS,C0398367,Exact +GARD:0006834,SNOMED-CT,127217009,NA +GARD:0006835,Orphanet,482,Exact +GARD:0006835,UMLS,C0033838,Exact +GARD:0006835,MedDRA,10048640,Exact +GARD:0006835,ICD-10,I89.8,NTBT +GARD:0006835,MeSH,D000796,Exact +GARD:0006835,SNOMED-CT,399894006,NA +GARD:0006840,Orphanet,157823,Exact +GARD:0006840,ICD-10,G04.8,NTBT +GARD:0006840,MedDRA,10066431,Exact +GARD:0006840,UMLS,C0270707,Exact +GARD:0006840,MeSH,D020232,Exact +GARD:0006840,SNOMED-CT,10651001,NA +GARD:0006841,SNOMED-CT,53974002,NA +GARD:0006841,Orphanet,485,Exact +GARD:0006841,OMIM,156550,Exact +GARD:0006841,UMLS,C0265279,Exact +GARD:0006841,MeSH,C537207,Exact +GARD:0006841,ICD-10,Q77.7,NTBT +GARD:0006842,SNOMED-CT,818965006,NA +GARD:0006842,Orphanet,563991,Exact +GARD:0006842,ICD-10,M92.6,Exact +GARD:0006844,Orphanet,487,Exact +GARD:0006844,UMLS,C0023521,Exact +GARD:0006844,OMIM,245200,Exact +GARD:0006844,OMIM,611722,BTNT +GARD:0006844,MedDRA,10023492,Exact +GARD:0006844,ICD-11,8A44.4,Exact +GARD:0006844,ICD-10,E75.2,NTBT +GARD:0006844,SNOMED-CT,192782005,NA +GARD:0006845,Orphanet,228340,Exact +GARD:0006845,OMIM,204300,Exact +GARD:0006845,ICD-10,E75.4,NTBT +GARD:0006848,SNOMED-CT,23817003,NA +GARD:0006848,Orphanet,2363,Exact +GARD:0006848,ICD-10,Q87.8,NTBT +GARD:0006848,OMIM,149730,Exact +GARD:0006848,UMLS,C0265269,Exact +GARD:0006851,SNOMED-CT,56989000,NA +GARD:0006851,Orphanet,43393,Exact +GARD:0006851,MedDRA,10067685,Exact +GARD:0006851,ICD-11,8C62,Exact +GARD:0006851,ICD-10,G73.1,Exact +GARD:0006851,UMLS,C0022972,Exact +GARD:0006851,MeSH,D015624,Exact +GARD:0006855,Orphanet,98818,Exact +GARD:0006855,SNOMED-CT,230438007,NA +GARD:0006855,ICD-10,F80.3,Exact +GARD:0006855,UMLS,C0282512,Exact +GARD:0006855,MedDRA,10052075,Exact +GARD:0006855,MeSH,D018887,Exact +GARD:0006855,ICD-11,8A62.2,Exact +GARD:0006855,OMIM,245570,NTBT +GARD:0006858,Orphanet,389,Exact +GARD:0006858,ICD-10,C96.6,BTNT +GARD:0006858,UMLS,C0019621,Exact +GARD:0006858,ICD-10,C96.0,BTNT +GARD:0006858,MedDRA,10069698,Exact +GARD:0006858,OMIM,604856,Exact +GARD:0006858,ICD-10,C96.5,BTNT +GARD:0006858,MeSH,D006646,Exact +GARD:0006858,SNOMED-CT,65399007,NA +GARD:0006859,SNOMED-CT,38196001,NA +GARD:0006859,Orphanet,633,Exact +GARD:0006859,UMLS,C0271568,Exact +GARD:0006859,ICD-10,E34.3,NTBT +GARD:0006859,OMIM,262500,Exact +GARD:0006859,MeSH,D046150,Exact +GARD:0006860,SNOMED-CT,63387002,NA +GARD:0006860,Orphanet,503,Exact +GARD:0006860,UMLS,C0175778,Exact +GARD:0006860,OMIM,150250,Exact +GARD:0006860,ICD-10,Q74.8,NTBT +GARD:0006860,UMLS,C2931648,Exact +GARD:0006865,Orphanet,2373,Exact +GARD:0006865,UMLS,C0345160,Exact +GARD:0006865,ICD-10,Q31.5,Exact +GARD:0006865,MeSH,D055092,Exact +GARD:0006865,OMIM,150280,Exact +GARD:0006865,MedDRA,10060786,Exact +GARD:0006865,ICD-11,LA71.0,Exact +GARD:0006865,SNOMED-CT,253737007,NA +GARD:0006866,SNOMED-CT,5619004,NA +GARD:0006866,Orphanet,110,Exact +GARD:0006866,MedDRA,10056715,Exact +GARD:0006866,OMIM,615988,BTNT +GARD:0006866,UMLS,C0752166,Exact +GARD:0006866,OMIM,617119,BTNT +GARD:0006866,OMIM,615987,BTNT +GARD:0006866,OMIM,615984,BTNT +GARD:0006866,OMIM,615981,BTNT +GARD:0006866,OMIM,605231,BTNT +GARD:0006866,OMIM,615985,BTNT +GARD:0006866,OMIM,615990,BTNT +GARD:0006866,ICD-10,Q87.8,NTBT +GARD:0006866,OMIM,615986,BTNT +GARD:0006866,OMIM,209900,BTNT +GARD:0006866,OMIM,615994,BTNT +GARD:0006866,OMIM,615982,BTNT +GARD:0006866,OMIM,615992,BTNT +GARD:0006866,OMIM,615996,BTNT +GARD:0006866,OMIM,600151,BTNT +GARD:0006866,MeSH,D020788,Exact +GARD:0006866,OMIM,615993,BTNT +GARD:0006866,OMIM,617406,BTNT +GARD:0006866,OMIM,615983,BTNT +GARD:0006866,OMIM,615989,BTNT +GARD:0006866,OMIM,615995,BTNT +GARD:0006866,OMIM,615991,BTNT +GARD:0006867,Orphanet,5,Exact +GARD:0006867,UMLS,C1969443,Exact +GARD:0006867,ICD-10,E71.3,NTBT +GARD:0006867,SNOMED-CT,726021008,NA +GARD:0006867,OMIM,609016,Exact +GARD:0006867,UMLS,C0342786,Exact +GARD:0006870,SNOMED-CT,58610003,NA +GARD:0006870,Orphanet,104,Exact +GARD:0006870,ICD-10,H47.2,NTBT +GARD:0006870,OMIM,535000,Exact +GARD:0006870,UMLS,C0917796,Exact +GARD:0006870,OMIM,308905,BTNT +GARD:0006873,Orphanet,199251,Exact +GARD:0006873,MedDRA,10035154,Exact +GARD:0006873,UMLS,C0158360,Exact +GARD:0006873,MeSH,C537000,Exact +GARD:0006873,ICD-11,EE61,NTBT +GARD:0006873,ICD-10,M72.2,Exact +GARD:0006873,SNOMED-CT,13370002,NA +GARD:0006874,Orphanet,2380,Exact +GARD:0006874,OMIM,150600,Exact +GARD:0006874,MedDRA,10034735,Exact +GARD:0006874,ICD-11,FB82.1,NTBT +GARD:0006874,SNOMED-CT,111255008,NA +GARD:0006874,UMLS,C0023234,Exact +GARD:0006874,ICD-10,M91.1,Exact +GARD:0006876,SNOMED-CT,26726000,NA +GARD:0006876,Orphanet,549,Exact +GARD:0006876,MedDRA,10035718,Exact +GARD:0006876,UMLS,C0023240,Exact +GARD:0006876,MeSH,D007876,Exact +GARD:0006876,UMLS,C0023241,Exact +GARD:0006876,MeSH,D007877,Exact +GARD:0006876,MedDRA,10061266,Exact +GARD:0006876,ICD-10,A48.1,Exact +GARD:0006876,ICD-11,1C19,Exact +GARD:0006877,SNOMED-CT,29570005,NA +GARD:0006877,Orphanet,506,Exact +GARD:0006877,ICD-11,5C53.24,Exact +GARD:0006877,ICD-10,G31.8,NTBT +GARD:0006877,MedDRA,10062950,Exact +GARD:0006877,UMLS,C0023264,Exact +GARD:0006877,UMLS,C0751267,Exact +GARD:0006877,MeSH,D007888,Exact +GARD:0006877,OMIM,256000,Exact +GARD:0006878,Orphanet,314,Exact +GARD:0006878,OMIM,609536,NTBT +GARD:0006878,ICD-10,L21.1,NTBT +GARD:0006878,SNOMED-CT,7297005,NA +GARD:0006880,Orphanet,64720,Exact +GARD:0006880,UMLS,C0023269,Exact +GARD:0006880,SNOMED-CT,443719001,NA +GARD:0006880,ICD-10,C49.9,NTBT +GARD:0006880,MeSH,D007890,Exact +GARD:0006880,MedDRA,10024189,Exact +GARD:0006881,Orphanet,507,Exact +GARD:0006881,ICD-10,B55.1,BTNT +GARD:0006881,MeSH,D007896,Exact +GARD:0006881,ICD-10,B55.2,BTNT +GARD:0006881,OMIM,608207,Exact +GARD:0006881,ICD-10,B55.0,BTNT +GARD:0006881,MedDRA,10024198,Exact +GARD:0006881,ICD-10,B55.9,BTNT +GARD:0006881,UMLS,C0023281,Exact +GARD:0006881,SNOMED-CT,80612004,NA +GARD:0006882,Orphanet,137839,Exact +GARD:0006882,MeSH,D057831,Exact +GARD:0006882,ICD-10,J03.8,NTBT +GARD:0006882,MedDRA,10065552,Exact +GARD:0006882,UMLS,C0343525,Exact +GARD:0006885,SNOMED-CT,111307005,NA +GARD:0006885,Orphanet,508,Exact +GARD:0006885,ICD-10,E34.8,NTBT +GARD:0006885,OMIM,246200,Exact +GARD:0006885,UMLS,C0265344,Exact +GARD:0006886,Orphanet,548,Exact +GARD:0006886,ICD-10,A30.8,BTNT +GARD:0006886,ICD-10,A30.2,BTNT +GARD:0006886,OMIM,610988,BTNT +GARD:0006886,OMIM,613407,BTNT +GARD:0006886,MeSH,D007918,Exact +GARD:0006886,MedDRA,10024229,Exact +GARD:0006886,ICD-10,A30.0,BTNT +GARD:0006886,OMIM,609888,Exact +GARD:0006886,ICD-10,A30.3,BTNT +GARD:0006886,OMIM,613223,BTNT +GARD:0006886,ICD-10,A30.4,BTNT +GARD:0006886,UMLS,C0023343,Exact +GARD:0006886,ICD-10,A30.5,BTNT +GARD:0006886,ICD-10,A30.1,BTNT +GARD:0006886,OMIM,607572,BTNT +GARD:0006886,OMIM,246300,BTNT +GARD:0006886,ICD-10,A30.9,BTNT +GARD:0006886,SNOMED-CT,81004002,NA +GARD:0006893,Orphanet,99842,Exact +GARD:0006893,MeSH,C535887,Exact +GARD:0006893,UMLS,C0398738,Exact +GARD:0006893,ICD-10,D84.8,NTBT +GARD:0006893,OMIM,116920,Exact +GARD:0006893,SNOMED-CT,234582006,NA +GARD:0006895,SNOMED-CT,192781003,NA +GARD:0006895,Orphanet,68356,Exact +GARD:0006895,ICD-10,E75.2,NTBT +GARD:0006895,MedDRA,10024381,Exact +GARD:0006895,UMLS,C0023520,Exact +GARD:0006901,Orphanet,65285,Exact +GARD:0006901,ICD-10,Q04.8,NTBT +GARD:0006901,UMLS,C1266181,Exact +GARD:0006901,OMIM,158350,NTBT +GARD:0006901,UMLS,C0391826,Exact +GARD:0006901,SNOMED-CT,67944007,NA +GARD:0006902,SNOMED-CT,428850001,NA +GARD:0006902,Orphanet,524,Exact +GARD:0006902,MedDRA,10066795,Exact +GARD:0006902,OMIM,609265,BTNT +GARD:0006902,ICD-10,C97,NTBT +GARD:0006902,UMLS,C0085390,Exact +GARD:0006902,OMIM,151623,Exact +GARD:0006902,OMIM,609266,BTNT +GARD:0006902,MeSH,D016864,Exact +GARD:0006906,SNOMED-CT,373604002,NA +GARD:0006906,Orphanet,93558,Exact +GARD:0006906,UMLS,C0238239,Exact +GARD:0006906,ICD-11,2A83.52,Exact +GARD:0006906,ICD-10,D89.8,NTBT +GARD:0006907,Orphanet,263,Exact +GARD:0006907,ICD-10,G71.0,NTBT +GARD:0006907,SNOMED-CT,240046001,NA +GARD:0006907,MeSH,D049288,Exact +GARD:0006907,UMLS,C0686353,Exact +GARD:0006913,Orphanet,69078,Exact +GARD:0006913,UMLS,C0023827,Exact +GARD:0006913,MeSH,D008080,Exact +GARD:0006913,OMIM,613488,BTNT +GARD:0006913,ICD-10,C49.9,NTBT +GARD:0006913,MedDRA,10024627,Exact +GARD:0006913,SNOMED-CT,254828009,NA +GARD:0006914,SNOMED-CT,715780008,NA +GARD:0006914,Orphanet,2148,Exact +GARD:0006914,OMIM,300067,Exact +GARD:0006914,UMLS,C1848199,Exact +GARD:0006914,ICD-10,Q04.3,NTBT +GARD:0006915,SNOMED-CT,4241002,NA +GARD:0006915,Orphanet,533,Exact +GARD:0006915,MeSH,D008088,Exact +GARD:0006915,ICD-10,A32.9,BTNT +GARD:0006915,MedDRA,10024641,Exact +GARD:0006915,ICD-10,A32.7,BTNT +GARD:0006915,ICD-10,A32.8,BTNT +GARD:0006915,ICD-10,A32.0,BTNT +GARD:0006915,UMLS,C0023860,Exact +GARD:0006915,ICD-10,A32.1,BTNT +GARD:0006919,Orphanet,2406,Exact +GARD:0006919,UMLS,C0023944,Exact +GARD:0006919,ICD-10,G83.8,NTBT +GARD:0006919,MedDRA,10024792,Exact +GARD:0006919,SNOMED-CT,38023001,NA +GARD:0006940,Orphanet,33314,Exact +GARD:0006940,ICD-10,L98.6,NTBT +GARD:0006940,UMLS,C0580181,Exact +GARD:0006940,SNOMED-CT,19719003,NA +GARD:0006943,SNOMED-CT,239940004,NA +GARD:0006943,Orphanet,86869,Exact +GARD:0006943,ICD-11,2A81.3,Exact +GARD:0006943,UMLS,C0024307,Exact +GARD:0006943,MeSH,D008230,Exact +GARD:0006943,ICD-10,C83.8,NTBT +GARD:0006943,MedDRA,10025325,Exact +GARD:0006944,Orphanet,98842,Exact +GARD:0006944,UMLS,C0206182,Exact +GARD:0006944,ICD-10,C86.6,Exact +GARD:0006944,MeSH,D017731,Exact +GARD:0006944,ICD-11,2B03.1,Exact +GARD:0006944,MedDRA,10056670,Exact +GARD:0006944,SNOMED-CT,31047003,NA +GARD:0006950,Orphanet,60040,Exact +GARD:0006950,UMLS,C1865285,Exact +GARD:0006950,OMIM,602501,Exact +GARD:0006950,ICD-10,Q87.3,NTBT +GARD:0006951,SNOMED-CT,205342008,NA +GARD:0006951,Orphanet,295047,Exact +GARD:0006951,ICD-10,Q74.2,NTBT +GARD:0006951,ICD-11,LB97.1,Exact +GARD:0006951,UMLS,C2931596,Exact +GARD:0006953,SNOMED-CT,60258001,NA +GARD:0006953,Orphanet,98969,Exact +GARD:0006953,MedDRA,10025406,Exact +GARD:0006953,UMLS,C0024439,Exact +GARD:0006953,ICD-10,H18.5,NTBT +GARD:0006953,UMLS,C1636149,Exact +GARD:0006953,OMIM,217800,Exact +GARD:0006956,SNOMED-CT,713060000,NA +GARD:0006956,Orphanet,204,Exact +GARD:0006956,UMLS,C0022336,Exact +GARD:0006956,ICD-10,A81.0,NTBT +GARD:0006956,MeSH,D007562,Exact +GARD:0006956,OMIM,123400,NTBT +GARD:0006956,MedDRA,10011384,Exact +GARD:0006957,Orphanet,2398,Exact +GARD:0006957,UMLS,C0024445,Exact +GARD:0006957,UMLS,C0023804,Exact +GARD:0006957,UMLS,C2931642,Exact +GARD:0006957,OMIM,151800,Exact +GARD:0006957,ICD-10,E88.8,NTBT +GARD:0006957,SNOMED-CT,238902007,NA +GARD:0006958,SNOMED-CT,46041001,NA +GARD:0006958,Orphanet,163634,Exact +GARD:0006958,UMLS,C0024454,Exact +GARD:0006958,ICD-10,Q78.4,NTBT +GARD:0006958,OMIM,614569,Exact +GARD:0006959,SNOMED-CT,446079007,NA +GARD:0006959,Orphanet,210272,Exact +GARD:0006959,ICD-10,H81.8,NTBT +GARD:0006959,ICD-11,AB31.4,Exact +GARD:0006959,UMLS,C1608983,Exact +GARD:0006959,MedDRA,10064924,Exact +GARD:0006959,MeSH,C537840,Exact +GARD:0006960,Orphanet,556,Exact +GARD:0006960,ICD-10,N36.8,ND (not yet decided/unable to decide) +GARD:0006960,ICD-10,N32.8,ND (not yet decided/unable to decide) +GARD:0006960,ICD-10,N28.8,ND (not yet decided/unable to decide) +GARD:0006960,SNOMED-CT,716766007,NA +GARD:0006961,SNOMED-CT,61462000,NA +GARD:0006961,Orphanet,673,Exact +GARD:0006961,ICD-10,B51.9,BTNT +GARD:0006961,ICD-10,B50.8,BTNT +GARD:0006961,ICD-10,B53.0,BTNT +GARD:0006961,ICD-10,B53.8,BTNT +GARD:0006961,ICD-10,B54,BTNT +GARD:0006961,ICD-10,B53.1,BTNT +GARD:0006961,UMLS,C0024530,Exact +GARD:0006961,ICD-10,B52.0,BTNT +GARD:0006961,ICD-10,B52.8,BTNT +GARD:0006961,ICD-10,B52.9,BTNT +GARD:0006961,ICD-10,B50.9,BTNT +GARD:0006961,ICD-10,B51.0,BTNT +GARD:0006961,ICD-10,B50.0,BTNT +GARD:0006961,OMIM,611162,Exact +GARD:0006961,ICD-10,B51.8,BTNT +GARD:0006961,MeSH,D008288,Exact +GARD:0006961,MedDRA,10025487,Exact +GARD:0006963,Orphanet,2023,Exact +GARD:0006963,MeSH,D051677,Exact +GARD:0006963,ICD-10,C49.9,NTBT +GARD:0006963,UMLS,C0334463,Exact +GARD:0006963,SNOMED-CT,443439001,NA +GARD:0006963,MedDRA,10025552,Exact +GARD:0006964,Orphanet,423,Exact +GARD:0006964,ICD-11,8C78,Exact +GARD:0006964,OMIM,601887,BTNT +GARD:0006964,MeSH,D008305,Exact +GARD:0006964,OMIM,145600,Exact +GARD:0006964,OMIM,600467,BTNT +GARD:0006964,OMIM,154275,BTNT +GARD:0006964,ICD-10,T88.3,Exact +GARD:0006964,UMLS,C0024591,Exact +GARD:0006964,MedDRA,10020844,Exact +GARD:0006964,OMIM,154276,BTNT +GARD:0006964,OMIM,601888,BTNT +GARD:0006964,SNOMED-CT,213026003,NA +GARD:0006968,Orphanet,61,Exact +GARD:0006968,UMLS,C0024748,Exact +GARD:0006968,OMIM,248500,Exact +GARD:0006968,MeSH,D008363,Exact +GARD:0006968,SNOMED-CT,124466001,NA +GARD:0006968,ICD-10,E77.1,NTBT +GARD:0006969,Orphanet,52416,Exact +GARD:0006969,MedDRA,10061275,Exact +GARD:0006969,MeSH,D020522,Exact +GARD:0006969,ICD-11,2A85.5,Exact +GARD:0006969,UMLS,C0555202,Exact +GARD:0006969,ICD-10,C83.1,Exact +GARD:0006969,SNOMED-CT,443487006,NA +GARD:0006971,SNOMED-CT,386766007,NA +GARD:0006971,Orphanet,221074,Exact +GARD:0006971,ICD-10,G37.1,Exact +GARD:0006971,UMLS,C0238265,Exact +GARD:0006971,MeSH,D054319,Exact +GARD:0006971,MedDRA,10026828,Exact +GARD:0006971,ICD-11,8A46,Exact +GARD:0006972,SNOMED-CT,5127009,NA +GARD:0006972,Orphanet,91412,Exact +GARD:0006972,OMIM,154600,Exact +GARD:0006972,UMLS,C0266521,Exact +GARD:0006972,ICD-11,9A03.00,Exact +GARD:0006972,MedDRA,10064583,Exact +GARD:0006972,ICD-10,Q07.8,NTBT +GARD:0006973,Orphanet,2461,Exact +GARD:0006973,MeSH,C535910,Exact +GARD:0006973,ICD-10,Q87.0,NTBT +GARD:0006973,OMIM,248700,Exact +GARD:0006973,UMLS,C0796033,Exact +GARD:0006973,SNOMED-CT,449824004,NA +GARD:0006975,Orphanet,284963,Exact +GARD:0006975,OMIM,154700,Exact +GARD:0006975,ICD-10,Q87.4,NTBT +GARD:0006984,Orphanet,560,Exact +GARD:0006984,ICD-10,Q87.0,NTBT +GARD:0006984,OMIM,154780,Exact +GARD:0006984,UMLS,C0265235,Exact +GARD:0006984,SNOMED-CT,33410002,NA +GARD:0006984,MeSH,C536025,Exact +GARD:0006985,Orphanet,561,Exact +GARD:0006985,ICD-10,Q87.3,NTBT +GARD:0006985,MeSH,C536026,Exact +GARD:0006985,UMLS,C0265211,Exact +GARD:0006985,OMIM,602535,Exact +GARD:0006985,SNOMED-CT,73284007,NA +GARD:0006986,Orphanet,2466,Exact +GARD:0006986,UMLS,C0795953,Exact +GARD:0006986,ICD-10,G11.4,NTBT +GARD:0006986,OMIM,303350,Exact +GARD:0006986,MeSH,C536029,Exact +GARD:0006987,Orphanet,98292,Exact +GARD:0006987,ICD-10,D47.0,BTNT +GARD:0006987,MeSH,D008415,Exact +GARD:0006987,ICD-10,Q82.2,BTNT +GARD:0006987,UMLS,C0334664,Exact +GARD:0006987,ICD-10,C96.2,BTNT +GARD:0006987,UMLS,C0024899,Exact +GARD:0006987,OMIM,154800,Exact +GARD:0006987,MedDRA,10026891,Exact +GARD:0006992,Orphanet,1248,Exact +GARD:0006992,UMLS,C3888567,Exact +GARD:0006992,ICD-10,Q75.8,NTBT +GARD:0006992,UMLS,C0220692,Exact +GARD:0006992,OMIM,155050,Exact +GARD:0006992,SNOMED-CT,715985008,NA +GARD:0006995,Orphanet,562,Exact +GARD:0006995,UMLS,C0242292,Exact +GARD:0006995,ICD-10,Q78.1,NTBT +GARD:0006995,OMIM,174800,Exact +GARD:0006995,MeSH,D005359,Exact +GARD:0006995,SNOMED-CT,726029005,NA +GARD:0006996,Orphanet,175,Exact +GARD:0006996,OMIM,250250,Exact +GARD:0006996,MedDRA,10069596,Exact +GARD:0006996,MeSH,C535916,Exact +GARD:0006996,ICD-10,Q78.8,NTBT +GARD:0006996,OMIM,250460,NTBT +GARD:0006996,UMLS,C0220748,Exact +GARD:0006996,SNOMED-CT,7720002,NA +GARD:0007002,Orphanet,88949,Exact +GARD:0007002,ICD-10,Q61.5,NTBT +GARD:0007002,SNOMED-CT,726017001,NA +GARD:0007002,OMIM,174000,Exact +GARD:0007004,Orphanet,1332,Exact +GARD:0007004,UMLS,C0238462,Exact +GARD:0007004,ICD-10,C73,NTBT +GARD:0007004,MeSH,C536914,Exact +GARD:0007004,MedDRA,10027101,Exact +GARD:0007004,ICD-11,2D10.4,Exact +GARD:0007004,SNOMED-CT,255032005,NA +GARD:0007005,SNOMED-CT,443333004,NA +GARD:0007005,Orphanet,616,Exact +GARD:0007005,MeSH,D008527,Exact +GARD:0007005,UMLS,C0025149,Exact +GARD:0007005,ICD-10,C71.6,NTBT +GARD:0007005,ICD-11,2A00.10,Exact +GARD:0007005,OMIM,155255,Exact +GARD:0007005,MedDRA,10027107,Exact +GARD:0007006,Orphanet,35858,Exact +GARD:0007006,OMIM,261100,Exact +GARD:0007006,UMLS,C1306856,Exact +GARD:0007006,ICD-10,D51.1,NTBT +GARD:0007006,OMIM,618882,Exact +GARD:0007006,SNOMED-CT,234363001,NA +GARD:0007008,SNOMED-CT,230325003,NA +GARD:0007008,Orphanet,93964,Exact +GARD:0007008,UMLS,C0025183,Exact +GARD:0007008,ICD-10,G24.8,NTBT +GARD:0007009,SNOMED-CT,39925003,NA +GARD:0007009,Orphanet,550,Exact +GARD:0007009,ICD-10,G71.3,NTBT +GARD:0007009,MedDRA,10053872,Exact +GARD:0007009,MeSH,D017241,Exact +GARD:0007009,UMLS,C0162671,Exact +GARD:0007009,OMIM,540000,Exact +GARD:0007010,Orphanet,2483,Exact +GARD:0007010,ICD-10,G51.2,Exact +GARD:0007010,MeSH,D008556,Exact +GARD:0007010,UMLS,C0025235,Exact +GARD:0007010,OMIM,155900,Exact +GARD:0007010,ICD-11,8B88.Y,NTBT +GARD:0007010,MedDRA,10027166,Exact +GARD:0007010,SNOMED-CT,37770007,NA +GARD:0007011,SNOMED-CT,13449007,NA +GARD:0007011,Orphanet,2484,Exact +GARD:0007011,MedDRA,10060908,Exact +GARD:0007011,OMIM,309350,Exact +GARD:0007011,ICD-10,Q77.8,NTBT +GARD:0007011,UMLS,C0025237,Exact +GARD:0007015,Orphanet,2495,Exact +GARD:0007015,UMLS,C0025286,Exact +GARD:0007015,MeSH,D008579,Exact +GARD:0007015,OMIM,606190,BTNT +GARD:0007015,ICD-10,D32.9,NTBT +GARD:0007015,MedDRA,10027191,Exact +GARD:0007015,SNOMED-CT,1157161000,NA +GARD:0007021,Orphanet,330021,Exact +GARD:0007021,ICD-11,NE61,NTBT +GARD:0007021,ICD-10,T56.1,Exact +GARD:0007021,UMLS,C0025427,Exact +GARD:0007021,SNOMED-CT,767299002,NA +GARD:0007026,Orphanet,50251,Exact +GARD:0007026,ICD-11,2C26.0,Exact +GARD:0007026,UMLS,C1377913,Exact +GARD:0007026,ICD-10,C45.0,Exact +GARD:0007026,UMLS,C0812413,Exact +GARD:0007026,MedDRA,10027406,Exact +GARD:0007026,MeSH,D008654,Exact +GARD:0007026,SNOMED-CT,254645002,NA +GARD:0007026,OMIM,156240,Exact +GARD:0007026,UMLS,C0025500,Exact +GARD:0007029,Orphanet,174,Exact +GARD:0007029,MeSH,C537352,Exact +GARD:0007029,UMLS,C0265289,Exact +GARD:0007029,OMIM,156500,Exact +GARD:0007029,ICD-10,Q78.5,NTBT +GARD:0007029,SNOMED-CT,29248006,NA +GARD:0007035,SNOMED-CT,716742001,NA +GARD:0007035,Orphanet,321,Exact +GARD:0007035,OMIM,133701,BTNT +GARD:0007035,UMLS,C0206641,Exact +GARD:0007035,OMIM,133700,Exact +GARD:0007035,OMIM,600209,BTNT +GARD:0007035,ICD-11,LD24.20,Exact +GARD:0007035,ICD-10,Q78.6,Exact +GARD:0007035,UMLS,C0015306,Exact +GARD:0007039,SNOMED-CT,235729009,NA +GARD:0007039,Orphanet,2290,Exact +GARD:0007039,UMLS,C0341306,Exact +GARD:0007039,MedDRA,10068494,Exact +GARD:0007039,ICD-10,P78.3,NTBT +GARD:0007039,OMIM,251850,Exact +GARD:0007041,Orphanet,86879,Exact +GARD:0007041,UMLS,C0392788,Exact +GARD:0007041,UMLS,C0018197,Exact +GARD:0007041,ICD-11,2A90.6,Exact +GARD:0007041,MeSH,D054391,Exact +GARD:0007041,MedDRA,10065855,Exact +GARD:0007041,ICD-10,C86.0,Exact +GARD:0007041,SNOMED-CT,414166008,NA +GARD:0007043,Orphanet,79078,Exact +GARD:0007043,MeSH,D008882,Exact +GARD:0007043,MedDRA,10052317,Exact +GARD:0007043,MedDRA,10051457,Exact +GARD:0007043,UMLS,C0026103,Exact +GARD:0007043,ICD-10,K11.8,NTBT +GARD:0007043,SNOMED-CT,7826003,NA +GARD:0007051,SNOMED-CT,398049005,NA +GARD:0007051,Orphanet,809,Exact +GARD:0007051,UMLS,C0026272,Exact +GARD:0007051,MedDRA,10027754,Exact +GARD:0007051,ICD-10,M35.1,Exact +GARD:0007051,ICD-11,1A30,Exact +GARD:0007051,MeSH,D008947,Exact +GARD:0007058,Orphanet,90289,Exact +GARD:0007058,MedDRA,10039712,Exact +GARD:0007058,ICD-11,EB61,BTNT +GARD:0007058,UMLS,C0036420,Exact +GARD:0007058,MeSH,D012594,Exact +GARD:0007058,ICD-10,L94.0,Exact +GARD:0007058,SNOMED-CT,201048007,NA +GARD:0007064,SNOMED-CT,69116000,NA +GARD:0007064,Orphanet,2573,Exact +GARD:0007064,ICD-11,8B22.B,Exact +GARD:0007064,OMIM,607151,BTNT +GARD:0007064,OMIM,608796,BTNT +GARD:0007064,MeSH,C536991,Exact +GARD:0007064,OMIM,614042,BTNT +GARD:0007064,OMIM,252350,Exact +GARD:0007064,ICD-10,I67.5,Exact +GARD:0007064,UMLS,C0026654,Exact +GARD:0007064,UMLS,C2931384,Exact +GARD:0007064,MedDRA,10028047,Exact +GARD:0007064,MeSH,D009072,Exact +GARD:0007065,Orphanet,79213,Exact +GARD:0007065,ICD-10,E76.0,BTNT +GARD:0007065,ICD-10,E76.2,BTNT +GARD:0007065,MeSH,D009083,Exact +GARD:0007065,ICD-10,E76.1,BTNT +GARD:0007065,ICD-10,E76.3,BTNT +GARD:0007065,MedDRA,10028093,Exact +GARD:0007065,UMLS,C0026703,Exact +GARD:0007065,SNOMED-CT,11380006,NA +GARD:0007071,SNOMED-CT,41572006,NA +GARD:0007071,Orphanet,79269,Exact +GARD:0007071,UMLS,C0086647,Exact +GARD:0007071,OMIM,252900,Exact +GARD:0007071,ICD-10,E76.2,NTBT +GARD:0007072,Orphanet,79270,Exact +GARD:0007072,UMLS,C0086648,Exact +GARD:0007072,OMIM,252920,Exact +GARD:0007072,ICD-10,E76.2,NTBT +GARD:0007072,SNOMED-CT,59990008,NA +GARD:0007073,SNOMED-CT,75238000,NA +GARD:0007073,Orphanet,79271,Exact +GARD:0007073,ICD-10,E76.2,NTBT +GARD:0007073,UMLS,C0086649,Exact +GARD:0007073,OMIM,252930,Exact +GARD:0007074,Orphanet,79272,Exact +GARD:0007074,UMLS,C0086650,Exact +GARD:0007074,OMIM,252940,Exact +GARD:0007074,ICD-10,E76.2,NTBT +GARD:0007074,SNOMED-CT,15892005,NA +GARD:0007079,Orphanet,102,Exact +GARD:0007079,SNOMED-CT,230297002,NA +GARD:0007079,MedDRA,10064060,Exact +GARD:0007079,ICD-10,G23.3,BTNT +GARD:0007079,MeSH,D019578,Exact +GARD:0007079,ICD-10,G23.2,BTNT +GARD:0007079,OMIM,146500,Exact +GARD:0007079,UMLS,C0393571,Exact +GARD:0007095,SNOMED-CT,69463008,NA +GARD:0007095,Orphanet,583,Exact +GARD:0007095,OMIM,253200,Exact +GARD:0007095,ICD-11,5C56.33,Exact +GARD:0007095,MedDRA,10056892,Exact +GARD:0007095,MeSH,D009087,Exact +GARD:0007095,ICD-10,E76.2,NTBT +GARD:0007095,UMLS,C0026709,Exact +GARD:0007096,Orphanet,584,Exact +GARD:0007096,MeSH,D016538,Exact +GARD:0007096,ICD-10,E76.2,NTBT +GARD:0007096,OMIM,253220,Exact +GARD:0007096,UMLS,C0085132,Exact +GARD:0007096,MedDRA,10056893,Exact +GARD:0007096,SNOMED-CT,43916004,NA +GARD:0007097,SNOMED-CT,787407003,NA +GARD:0007097,Orphanet,53271,Exact +GARD:0007097,MeSH,C537369,Exact +GARD:0007097,ICD-10,Q87.0,NTBT +GARD:0007097,UMLS,C1864436,Exact +GARD:0007097,OMIM,602849,Exact +GARD:0007100,SNOMED-CT,253828000,NA +GARD:0007100,Orphanet,73217,Exact +GARD:0007100,UMLS,C0431637,Exact +GARD:0007100,MeSH,C537371,Exact +GARD:0007103,Orphanet,139436,Exact +GARD:0007103,MedDRA,10070595,Exact +GARD:0007103,UMLS,C0311284,Exact +GARD:0007103,ICD-10,D76.3,NTBT +GARD:0007103,SNOMED-CT,84241008,NA +GARD:0007108,SNOMED-CT,109989006,NA +GARD:0007108,Orphanet,29073,Exact +GARD:0007108,OMIM,254500,Exact +GARD:0007108,ICD-11,2A83.1,Exact +GARD:0007108,MedDRA,10028228,Exact +GARD:0007108,MeSH,D009101,Exact +GARD:0007108,UMLS,C0026764,Exact +GARD:0007108,ICD-10,C90.0,Exact +GARD:0007111,Orphanet,2990,Exact +GARD:0007111,OMIM,265000,Exact +GARD:0007111,OMIM,618469,NTBT +GARD:0007111,ICD-10,Q79.8,NTBT +GARD:0007111,SNOMED-CT,80773006,NA +GARD:0007122,Orphanet,589,Exact +GARD:0007122,OMIM,607085,BTNT +GARD:0007122,UMLS,C0026896,Exact +GARD:0007122,ICD-11,8C60,Exact +GARD:0007122,ICD-10,G70.0,Exact +GARD:0007122,SNOMED-CT,91637004,NA +GARD:0007122,OMIM,254200,Exact +GARD:0007122,MedDRA,10028417,Exact +GARD:0007122,MeSH,D009157,Exact +GARD:0007122,OMIM,159400,BTNT +GARD:0007132,Orphanet,52688,Exact +GARD:0007132,MedDRA,10028532,Exact +GARD:0007132,OMIM,614286,Exact +GARD:0007132,UMLS,C3463824,Exact +GARD:0007132,MeSH,D009190,Exact +GARD:0007132,UMLS,C0026985,Exact +GARD:0007132,SNOMED-CT,109995007,NA +GARD:0007139,SNOMED-CT,439732004,NA +GARD:0007139,Orphanet,36899,Exact +GARD:0007139,UMLS,C1834570,Exact +GARD:0007139,OMIM,159900,BTNT +GARD:0007139,MeSH,C536096,Exact +GARD:0007139,OMIM,616398,BTNT +GARD:0007139,ICD-10,G24.1,NTBT +GARD:0007140,Orphanet,98261,Exact +GARD:0007140,ICD-11,8A61.41,Exact +GARD:0007140,UMLS,C0751778,Exact +GARD:0007140,MeSH,D020191,Exact +GARD:0007140,SNOMED-CT,267581004,NA +GARD:0007144,Orphanet,551,Exact +GARD:0007144,MeSH,D017243,Exact +GARD:0007144,OMIM,545000,Exact +GARD:0007144,ICD-10,G71.3,NTBT +GARD:0007144,MedDRA,10069825,Exact +GARD:0007144,UMLS,C0162672,Exact +GARD:0007144,SNOMED-CT,230426003,NA +GARD:0007146,Orphanet,178342,Exact +GARD:0007146,UMLS,C0334121,Exact +GARD:0007146,SNOMED-CT,771233008,NA +GARD:0007146,ICD-10,D48.7,NTBT +GARD:0007146,MedDRA,10067917,Exact +GARD:0007148,Orphanet,53698,Exact +GARD:0007148,OMIM,608358,BTNT +GARD:0007148,OMIM,255160,BTNT +GARD:0007148,ICD-10,G71.2,NTBT +GARD:0007157,SNOMED-CT,404069006,NA +GARD:0007157,Orphanet,99967,Exact +GARD:0007157,MeSH,D018208,Exact +GARD:0007157,UMLS,C0206634,Exact +GARD:0007157,OMIM,613488,BTNT +GARD:0007157,ICD-10,C49.9,NTBT +GARD:0007158,Orphanet,927,Exact +GARD:0007158,OMIM,237310,Exact +GARD:0007158,UMLS,C0268543,Exact +GARD:0007158,ICD-10,E72.2,NTBT +GARD:0007158,SNOMED-CT,57119000,NA +GARD:0007160,Orphanet,2614,Exact +GARD:0007160,MedDRA,10063431,Exact +GARD:0007160,UMLS,C0027341,Exact +GARD:0007160,MeSH,D009261,Exact +GARD:0007160,ICD-11,LD24.J0,Exact +GARD:0007160,ICD-10,Q87.2,NTBT +GARD:0007160,OMIM,161200,Exact +GARD:0007160,SNOMED-CT,22199006,NA +GARD:0007161,Orphanet,627,Exact +GARD:0007161,MeSH,C538336,Exact +GARD:0007161,ICD-10,Q87.0,NTBT +GARD:0007161,UMLS,C0796085,Exact +GARD:0007161,OMIM,302350,Exact +GARD:0007161,SNOMED-CT,445257004,NA +GARD:0007162,Orphanet,2073,Exact +GARD:0007162,OMIM,161400,BTNT +GARD:0007162,OMIM,609039,BTNT +GARD:0007162,UMLS,C0027404,Exact +GARD:0007162,OMIM,614223,BTNT +GARD:0007162,MedDRA,10028713,Exact +GARD:0007162,OMIM,614250,BTNT +GARD:0007162,OMIM,612851,BTNT +GARD:0007162,ICD-11,7A20.0,Exact +GARD:0007162,UMLS,C0751362,Exact +GARD:0007162,OMIM,605841,BTNT +GARD:0007162,MeSH,D009290,Exact +GARD:0007162,ICD-10,G47.4,Exact +GARD:0007162,OMIM,612417,BTNT +GARD:0007162,SNOMED-CT,735676003,NA +GARD:0007163,SNOMED-CT,449248000,NA +GARD:0007163,Orphanet,150,Exact +GARD:0007163,ICD-10,C11.0,BTNT +GARD:0007163,UMLS,C2931822,Exact +GARD:0007163,ICD-10,C11.2,BTNT +GARD:0007163,OMIM,607107,Exact +GARD:0007163,OMIM,617075,BTNT +GARD:0007163,MedDRA,10028793,Exact +GARD:0007163,UMLS,C0153392,Exact +GARD:0007163,ICD-10,C11.3,BTNT +GARD:0007163,OMIM,161550,BTNT +GARD:0007163,MeSH,C538339,Exact +GARD:0007163,UMLS,C0238301,Exact +GARD:0007163,ICD-10,C11.1,BTNT +GARD:0007166,Orphanet,377,Exact +GARD:0007166,UMLS,C0004779,Exact +GARD:0007166,ICD-10,C44.9,NTBT +GARD:0007166,UMLS,C0812437,Exact +GARD:0007166,MedDRA,10062804,Exact +GARD:0007166,OMIM,109400,Exact +GARD:0007166,SNOMED-CT,69408002,NA +GARD:0007170,SNOMED-CT,43019009,NA +GARD:0007170,Orphanet,199244,Exact +GARD:0007170,ICD-10,E24.1,Exact +GARD:0007170,UMLS,C0027577,Exact +GARD:0007170,MeSH,D009347,Exact +GARD:0007170,ICD-11,5A70.3,Exact +GARD:0007170,MedDRA,10028913,Exact +GARD:0007171,Orphanet,171439,Exact +GARD:0007171,ICD-10,G71.2,NTBT +GARD:0007171,OMIM,609285,BTNT +GARD:0007171,OMIM,161800,BTNT +GARD:0007171,OMIM,615731,BTNT +GARD:0007171,OMIM,256030,BTNT +GARD:0007171,OMIM,609273,BTNT +GARD:0007171,UMLS,C0546125,Exact +GARD:0007171,OMIM,617336,BTNT +GARD:0007171,OMIM,609284,BTNT +GARD:0007172,SNOMED-CT,6160004,NA +GARD:0007172,Orphanet,446,Exact +GARD:0007172,MeSH,C536394,Exact +GARD:0007172,UMLS,C0268059,Exact +GARD:0007172,OMIM,231100,Exact +GARD:0007172,ICD-10,E83.1,NTBT +GARD:0007178,Orphanet,223,Exact +GARD:0007178,MedDRA,10029147,Exact +GARD:0007178,OMIM,304800,BTNT +GARD:0007178,MeSH,D018500,Exact +GARD:0007178,SNOMED-CT,111395007,NA +GARD:0007178,ICD-11,GB90.4A,Exact +GARD:0007178,UMLS,C0162283,Exact +GARD:0007178,OMIM,125800,BTNT +GARD:0007178,ICD-10,N25.1,Exact +GARD:0007180,Orphanet,252131,Exact +GARD:0007182,SNOMED-CT,312514006,NA +GARD:0007182,Orphanet,634,Exact +GARD:0007182,MedDRA,10062909,Exact +GARD:0007182,OMIM,256500,Exact +GARD:0007182,ICD-10,Q80.8,NTBT +GARD:0007182,UMLS,C0265962,Exact +GARD:0007183,Orphanet,87876,Exact +GARD:0007183,UMLS,C0268228,Exact +GARD:0007183,ICD-10,E77.1,NTBT +GARD:0007183,UMLS,C3888317,Exact +GARD:0007183,SNOMED-CT,52186006,NA +GARD:0007183,OMIM,256150,BTNT +GARD:0007183,OMIM,256550,Exact +GARD:0007185,Orphanet,635,Exact +GARD:0007185,OMIM,613014,BTNT +GARD:0007185,UMLS,C2931189,Exact +GARD:0007185,OMIM,616792,BTNT +GARD:0007185,MeSH,D009447,Exact +GARD:0007185,MedDRA,10029260,Exact +GARD:0007185,UMLS,C0027819,Exact +GARD:0007185,ICD-10,C74.9,NTBT +GARD:0007185,OMIM,613013,BTNT +GARD:0007185,OMIM,613016,BTNT +GARD:0007185,MeSH,C536408,Exact +GARD:0007185,OMIM,613017,BTNT +GARD:0007185,OMIM,613015,BTNT +GARD:0007185,OMIM,256700,BTNT +GARD:0007185,SNOMED-CT,432328008,NA +GARD:0007186,Orphanet,2481,Exact +GARD:0007186,ICD-10,D22.5,BTNT +GARD:0007186,ICD-10,D22.6,BTNT +GARD:0007186,ICD-10,D22.3,BTNT +GARD:0007186,MeSH,C537387,Exact +GARD:0007186,ICD-10,D22.7,BTNT +GARD:0007186,ICD-10,D22.4,BTNT +GARD:0007186,OMIM,249400,Exact +GARD:0007186,UMLS,C0544862,Exact +GARD:0007190,OMIM,604154,Exact +GARD:0007190,DiseaseOntology,110048,NA +GARD:0007190,UMLS,C1970143,NA +GARD:0007190,UMLS,C1858751,NA +GARD:0007190,GeneticAlliance,355,NA +GARD:0007191,Orphanet,252183,Exact +GARD:0007191,UMLS,C0027830,Exact +GARD:0007191,SNOMED-CT,404029005,NA +GARD:0007191,ICD-10,D36.1,NTBT +GARD:0007191,MedDRA,10029267,Exact +GARD:0007193,SNOMED-CT,92503002,NA +GARD:0007193,Orphanet,637,Exact +GARD:0007193,ICD-10,Q85.0,NTBT +GARD:0007193,MedDRA,10029271,Exact +GARD:0007193,MeSH,D009464,Exact +GARD:0007193,UMLS,C0027859,Exact +GARD:0007193,UMLS,C1136041,Exact +GARD:0007193,UMLS,C0027832,Exact +GARD:0007193,OMIM,101000,Exact +GARD:0007193,MeSH,D016518,Exact +GARD:0007193,MedDRA,10000523,Exact +GARD:0007195,SNOMED-CT,15244003,NA +GARD:0007195,Orphanet,94093,Exact +GARD:0007195,MeSH,D009459,Exact +GARD:0007195,MedDRA,10029282,Exact +GARD:0007195,UMLS,C0027849,Exact +GARD:0007195,ICD-11,8A0Y,NTBT +GARD:0007195,ICD-10,G21.0,Exact +GARD:0007201,Orphanet,83471,Exact +GARD:0007201,UMLS,C0685894,Exact +GARD:0007201,ICD-11,4A01.30,NTBT +GARD:0007201,OMIM,242700,Exact +GARD:0007201,UMLS,C0152094,Exact +GARD:0007201,ICD-10,D81.4,Exact +GARD:0007201,SNOMED-CT,91918005,NA +GARD:0007206,Orphanet,77292,Exact +GARD:0007206,UMLS,C0268242,Exact +GARD:0007206,ICD-10,E75.2,NTBT +GARD:0007206,OMIM,257200,Exact +GARD:0007206,MeSH,D052536,Exact +GARD:0007206,SNOMED-CT,52165006,NA +GARD:0007207,SNOMED-CT,66751000,NA +GARD:0007207,Orphanet,646,Exact +GARD:0007207,OMIM,607625,BTNT +GARD:0007207,ICD-10,E75.2,NTBT +GARD:0007207,UMLS,C0220756,Exact +GARD:0007207,MeSH,D052556,Exact +GARD:0007207,OMIM,257220,Exact +GARD:0007210,Orphanet,31204,Exact +GARD:0007210,ICD-10,A43.8,BTNT +GARD:0007210,MeSH,C536125,Exact +GARD:0007210,ICD-10,A43.1,BTNT +GARD:0007210,UMLS,C0028242,Exact +GARD:0007210,ICD-10,A43.9,BTNT +GARD:0007210,MedDRA,10029444,Exact +GARD:0007210,ICD-10,A43.0,BTNT +GARD:0007210,SNOMED-CT,29227009,NA +GARD:0007219,Orphanet,407,Exact +GARD:0007219,OMIM,605899,Exact +GARD:0007219,ICD-10,E72.5,NTBT +GARD:0007219,UMLS,C0751748,Exact +GARD:0007219,ICD-11,5C50.70,Exact +GARD:0007219,SNOMED-CT,237939006,NA +GARD:0007220,Orphanet,79452,Exact +GARD:0007220,OMIM,613480,BTNT +GARD:0007220,UMLS,C1704423,Exact +GARD:0007220,OMIM,247440,BTNT +GARD:0007220,SNOMED-CT,399889006,NA +GARD:0007220,ICD-10,Q82.0,NTBT +GARD:0007220,OMIM,615907,BTNT +GARD:0007220,OMIM,611944,BTNT +GARD:0007220,OMIM,153100,BTNT +GARD:0007223,OMIM,163950,Exact +GARD:0007223,UMLS,C0041409,NA +GARD:0007223,GeneticAlliance,9644,NA +GARD:0007223,UMLS,C0028326,NA +GARD:0007223,UMLS,C1527404,NA +GARD:0007223,ICD-10-CM,Q87.19,NA +GARD:0007223,UMLS,C4551602,NA +GARD:0007223,DiseaseOntology,60578,NA +GARD:0007223,SNOMED-CT,205824006,NA +GARD:0007223,SNOMED-CT,205684007,NA +GARD:0007224,SNOMED-CT,15228007,NA +GARD:0007224,Orphanet,649,Exact +GARD:0007224,OMIM,310600,Exact +GARD:0007224,MeSH,C537849,Exact +GARD:0007224,UMLS,C0266526,Exact +GARD:0007224,ICD-10,H35.5,NTBT +GARD:0007224,MedDRA,10069760,Exact +GARD:0007226,SNOMED-CT,10406007,NA +GARD:0007226,Orphanet,510,Exact +GARD:0007226,UMLS,C0023374,Exact +GARD:0007226,MeSH,D007926,Exact +GARD:0007226,ICD-10,E79.1,Exact +GARD:0007226,ICD-11,5C55.01,Exact +GARD:0007226,OMIM,308950,ND (not yet decided/unable to decide) +GARD:0007226,MedDRA,10057589,Exact +GARD:0007226,OMIM,300322,Exact +GARD:0007239,Orphanet,2710,Exact +GARD:0007239,ICD-10,Q87.8,NTBT +GARD:0007239,OMIM,257850,BTNT +GARD:0007239,MedDRA,10063691,Exact +GARD:0007239,UMLS,C0812437,Exact +GARD:0007239,OMIM,164200,Exact +GARD:0007239,SNOMED-CT,38215007,NA +GARD:0007245,Orphanet,270,Exact +GARD:0007245,MeSH,D039141,Exact +GARD:0007245,OMIM,164300,Exact +GARD:0007245,UMLS,C0270952,Exact +GARD:0007245,MedDRA,10052181,Exact +GARD:0007245,ICD-10,G71.0,NTBT +GARD:0007245,SNOMED-CT,77097004,NA +GARD:0007251,SNOMED-CT,268274005,NA +GARD:0007251,Orphanet,296,Exact +GARD:0007251,OMIM,166000,Exact +GARD:0007251,UMLS,C0014084,Exact +GARD:0007251,ICD-11,2E83.Z,NTBT +GARD:0007251,ICD-10,Q78.4,Exact +GARD:0007251,UMLS,C0013366,Exact +GARD:0007251,MeSH,D004687,Exact +GARD:0007251,MedDRA,10014642,Exact +GARD:0007252,Orphanet,2737,Exact +GARD:0007252,MeSH,D015827,Exact +GARD:0007252,UMLS,C0029001,Exact +GARD:0007252,MeSH,D009855,Exact +GARD:0007252,ICD-11,1F6A,Exact +GARD:0007252,MedDRA,10039202,Exact +GARD:0007252,MedDRA,10030314,Exact +GARD:0007252,ICD-10,B73,Exact +GARD:0007252,UMLS,C0029002,Exact +GARD:0007252,SNOMED-CT,38539003,NA +GARD:0007264,Orphanet,357154,Exact +GARD:0007264,UMLS,C0029172,Exact +GARD:0007264,ICD-10,K13.5,Exact +GARD:0007264,ICD-11,DA02.2,Exact +GARD:0007264,SNOMED-CT,32883009,NA +GARD:0007269,Orphanet,147,Exact +GARD:0007269,OMIM,237300,Exact +GARD:0007269,ICD-11,5C50.A1,Exact +GARD:0007269,ICD-10,E72.2,NTBT +GARD:0007269,UMLS,C0751753,Exact +GARD:0007269,MedDRA,10058297,Exact +GARD:0007269,SNOMED-CT,765329008,NA +GARD:0007284,Orphanet,668,Exact +GARD:0007284,ICD-10,C41.9,NTBT +GARD:0007284,MeSH,D012516,Exact +GARD:0007284,MedDRA,10031291,Exact +GARD:0007284,UMLS,C0029463,Exact +GARD:0007284,OMIM,259500,Exact +GARD:0007284,SNOMED-CT,307576001,NA +GARD:0007295,Orphanet,213500,Exact +GARD:0007295,UMLS,C1140680,Exact +GARD:0007296,Orphanet,213512,Exact +GARD:0007296,ICD-10,C56,NTBT +GARD:0007296,UMLS,C0392998,Exact +GARD:0007296,SNOMED-CT,702368000,NA +GARD:0007299,Orphanet,2796,Exact +GARD:0007299,SNOMED-CT,88220006,NA +GARD:0007299,ICD-10,M89.4,NTBT +GARD:0007299,MedDRA,10051686,Exact +GARD:0007299,OMIM,259100,Exact +GARD:0007299,OMIM,614441,BTNT +GARD:0007299,OMIM,167100,BTNT +GARD:0007303,Orphanet,180275,Exact +GARD:0007303,UMLS,C0030185,Exact +GARD:0007303,ICD-10,C50.0,NTBT +GARD:0007303,UMLS,C1704323,Exact +GARD:0007303,MeSH,D010144,Exact +GARD:0007303,ICD-11,2E65.5,Exact +GARD:0007303,MedDRA,10033367,Exact +GARD:0007303,SNOMED-CT,403946000,NA +GARD:0007305,SNOMED-CT,56677004,NA +GARD:0007305,Orphanet,672,Exact +GARD:0007305,MeSH,D054975,Exact +GARD:0007305,UMLS,C0342418,Exact +GARD:0007305,ICD-10,Q87.8,NTBT +GARD:0007305,UMLS,C0265220,Exact +GARD:0007305,OMIM,146510,Exact +GARD:0007312,Orphanet,66624,Exact +GARD:0007312,ICD-10,G96.8,NTBT +GARD:0007312,SNOMED-CT,446682003,NA +GARD:0007321,Orphanet,86795,Exact +GARD:0007321,ICD-10,L98.5,NTBT +GARD:0007321,UMLS,C0263390,Exact +GARD:0007321,ICD-11,EB90.11,Exact +GARD:0007323,SNOMED-CT,59925007,NA +GARD:0007323,Orphanet,73260,Exact +GARD:0007323,ICD-10,B41.7,BTNT +GARD:0007323,MedDRA,10061906,Exact +GARD:0007323,ICD-10,B41.0,BTNT +GARD:0007323,ICD-10,B41.9,BTNT +GARD:0007323,MeSH,D010229,Exact +GARD:0007323,UMLS,C0030409,Exact +GARD:0007323,ICD-10,B41.8,BTNT +GARD:0007324,OMIM,168000,Exact +GARD:0007324,DiseaseOntology,50773,NA +GARD:0007324,SNOMED-CT,72787006,NA +GARD:0007324,UMLS,C3494181,NA +GARD:0007324,SNOMED-CT,127027008,NA +GARD:0007324,UMLS,C0007279,NA +GARD:0007324,UMLS,C0030422,NA +GARD:0007324,SNOMED-CT,30699005,NA +GARD:0007324,SNOMED-CT,803009,NA +GARD:0007324,SNOMED-CT,127028003,NA +GARD:0007324,UMLS,C0017671,NA +GARD:0007324,SNOMED-CT,127030001,NA +GARD:0007324,GeneticAlliance,5578,NA +GARD:0007324,SNOMED-CT,51747000,NA +GARD:0007324,SNOMED-CT,253029009,NA +GARD:0007324,SNOMED-CT,302833002,NA +GARD:0007324,UMLS,C0030421,NA +GARD:0007324,SNOMED-CT,32037004,NA +GARD:0007324,SNOMED-CT,302834008,NA +GARD:0007325,Orphanet,684,Exact +GARD:0007325,UMLS,C1868617,Exact +GARD:0007325,MeSH,C538616,Exact +GARD:0007325,ICD-10,G71.1,NTBT +GARD:0007325,UMLS,C0221055,Exact +GARD:0007325,ICD-11,8C74.0,Exact +GARD:0007325,OMIM,168300,Exact +GARD:0007326,Orphanet,36388,Exact +GARD:0007326,UMLS,C0751911,Exact +GARD:0007326,UMLS,C3267031,Exact +GARD:0007326,UMLS,C0393534,Exact +GARD:0007326,MedDRA,10072106,Exact +GARD:0007329,SNOMED-CT,255037004,NA +GARD:0007329,Orphanet,143,Exact +GARD:0007329,OMIM,608266,Exact +GARD:0007329,ICD-10,C75.0,NTBT +GARD:0007329,UMLS,C0687150,Exact +GARD:0007335,SNOMED-CT,127057004,NA +GARD:0007335,Orphanet,90035,Exact +GARD:0007335,UMLS,C0086774,Exact +GARD:0007335,ICD-11,3A20.3,Exact +GARD:0007335,UMLS,C0272129,Exact +GARD:0007335,MeSH,C538618,Exact +GARD:0007335,ICD-10,D59.6,NTBT +GARD:0007337,SNOMED-CT,1963002,NA +GARD:0007337,Orphanet,447,Exact +GARD:0007337,MedDRA,10034042,Exact +GARD:0007337,OMIM,615399,BTNT +GARD:0007337,UMLS,C0024790,Exact +GARD:0007337,ICD-11,3A21.0,Exact +GARD:0007337,ICD-10,D59.5,Exact +GARD:0007337,MeSH,D006457,Exact +GARD:0007337,OMIM,300818,Exact +GARD:0007338,Orphanet,1214,Exact +GARD:0007338,UMLS,C0015458,Exact +GARD:0007338,OMIM,141300,Exact +GARD:0007338,ICD-10,G51.8,NTBT +GARD:0007338,SNOMED-CT,718224004,NA +GARD:0007341,Orphanet,3378,Exact +GARD:0007341,ICD-10,Q91.6,BTNT +GARD:0007341,ICD-10,Q91.4,BTNT +GARD:0007341,ICD-11,LD40.1,Exact +GARD:0007341,UMLS,C2936830,Exact +GARD:0007341,ICD-10,Q91.7,BTNT +GARD:0007341,MedDRA,10044686,Exact +GARD:0007341,UMLS,C0152095,Exact +GARD:0007341,ICD-10,Q91.5,BTNT +GARD:0007341,SNOMED-CT,21111006,NA +GARD:0007342,OMIM,607411,Exact +GARD:0007342,GeneticAlliance,5628,NA +GARD:0007342,DiseaseOntology,13832,NA +GARD:0007342,UMLS,C4282128,NA +GARD:0007343,Orphanet,699,Exact +GARD:0007343,UMLS,C0342773,Exact +GARD:0007343,OMIM,557000,Exact +GARD:0007343,ICD-10,D64.0,NTBT +GARD:0007343,MedDRA,10062941,Exact +GARD:0007343,SNOMED-CT,237985009,NA +GARD:0007343,UMLS,C0342784,Exact +GARD:0007347,SNOMED-CT,724838009,NA +GARD:0007347,Orphanet,817,Exact +GARD:0007347,UMLS,C1849193,Exact +GARD:0007347,UMLS,C0406357,Exact +GARD:0007347,UMLS,C0343064,Exact +GARD:0007347,ICD-10,Q80.8,NTBT +GARD:0007347,ICD-11,EC20.1,Exact +GARD:0007354,SNOMED-CT,35154004,NA +GARD:0007354,Orphanet,79481,Exact +GARD:0007354,ICD-11,EB40.1,Exact +GARD:0007354,ICD-10,L10.2,NTBT +GARD:0007354,MedDRA,10057069,Exact +GARD:0007354,UMLS,C0263313,Exact +GARD:0007355,SNOMED-CT,49420001,NA +GARD:0007355,Orphanet,704,Exact +GARD:0007355,OMIM,169610,BTNT +GARD:0007355,UMLS,C0030809,Exact +GARD:0007355,MedDRA,10052802,Exact +GARD:0007355,ICD-10,L10.0,Exact +GARD:0007355,ICD-11,EB40.0,Exact +GARD:0007359,SNOMED-CT,281587000,NA +GARD:0007359,Orphanet,1335,Exact +GARD:0007359,ICD-10,Q89.7,NTBT +GARD:0007359,UMLS,C0559483,Exact +GARD:0007359,OMIM,313850,Exact +GARD:0007359,MeSH,D058502,Exact +GARD:0007360,Orphanet,767,Exact +GARD:0007360,MeSH,D010488,Exact +GARD:0007360,MedDRA,10036024,Exact +GARD:0007360,ICD-10,M30.0,Exact +GARD:0007360,UMLS,C0031036,Exact +GARD:0007360,ICD-11,4A44.4,Exact +GARD:0007360,SNOMED-CT,155441006,NA +GARD:0007371,OMIM,300049,Exact +GARD:0007371,UMLS,C1848213,NA +GARD:0007371,SNOMED-CT,448227009,NA +GARD:0007371,UMLS,C4551969,NA +GARD:0007371,DiseaseOntology,50454,NA +GARD:0007371,UMLS,C1845235,NA +GARD:0007371,GeneticAlliance,7556,NA +GARD:0007377,Orphanet,708,Exact +GARD:0007377,MeSH,C537884,Exact +GARD:0007377,ICD-10,Q13.4,NTBT +GARD:0007377,OMIM,612968,BTNT +GARD:0007377,MedDRA,10059202,Exact +GARD:0007377,OMIM,604229,Exact +GARD:0007377,SNOMED-CT,204153003,NA +GARD:0007378,Orphanet,2869,Exact +GARD:0007378,MeSH,D010580,Exact +GARD:0007378,OMIM,175200,Exact +GARD:0007378,ICD-10,Q85.8,NTBT +GARD:0007378,MedDRA,10034764,Exact +GARD:0007378,UMLS,C0031269,Exact +GARD:0007378,SNOMED-CT,54411001,NA +GARD:0007380,SNOMED-CT,70410008,NA +GARD:0007380,Orphanet,710,Exact +GARD:0007380,ICD-11,LD24.G0,Exact +GARD:0007380,UMLS,C0265303,Exact +GARD:0007380,UMLS,C0220658,Exact +GARD:0007380,OMIM,101600,Exact +GARD:0007380,MeSH,C538582,Exact +GARD:0007380,ICD-10,Q87.0,NTBT +GARD:0007380,UMLS,C2931888,Exact +GARD:0007381,SNOMED-CT,707747007,NA +GARD:0007381,Orphanet,526,Exact +GARD:0007381,OMIM,177200,Exact +GARD:0007381,UMLS,C0221043,Exact +GARD:0007381,OMIM,618126,Exact +GARD:0007381,MedDRA,10037113,Exact +GARD:0007381,MedDRA,10052313,Exact +GARD:0007381,MeSH,D056929,Exact +GARD:0007381,OMIM,618114,Exact +GARD:0007381,ICD-10,I15.1,NTBT +GARD:0007383,Orphanet,716,Exact +GARD:0007383,MedDRA,10034872,Exact +GARD:0007383,ICD-10,E70.0,NTBT +GARD:0007383,MeSH,D010661,Exact +GARD:0007383,UMLS,C0031485,Exact +GARD:0007383,ICD-10,E70.1,NTBT +GARD:0007383,OMIM,261600,Exact +GARD:0007385,SNOMED-CT,765143008,NA +GARD:0007385,Orphanet,276621,Exact +GARD:0007385,ICD-10,C74.1,NTBT +GARD:0007385,ICD-10,D35.0,NTBT +GARD:0007387,SNOMED-CT,48718006,NA +GARD:0007387,Orphanet,3103,Exact +GARD:0007387,OMIM,268300,Exact +GARD:0007387,MeSH,C535687,Exact +GARD:0007387,UMLS,C0392475,Exact +GARD:0007387,ICD-10,Q73.8,NTBT +GARD:0007389,Orphanet,713,Exact +GARD:0007389,UMLS,C0684324,Exact +GARD:0007389,ICD-10,E74.0,NTBT +GARD:0007389,OMIM,300653,Exact +GARD:0007389,UMLS,C1970848,Exact +GARD:0007392,SNOMED-CT,716994006,NA +GARD:0007392,Orphanet,275864,Exact +GARD:0007392,OMIM,619132,BTNT +GARD:0007392,OMIM,616437,BTNT +GARD:0007392,ICD-10,G31.0,NTBT +GARD:0007392,OMIM,600274,NTBT +GARD:0007392,OMIM,600795,BTNT +GARD:0007392,OMIM,172700,NTBT +GARD:0007396,SNOMED-CT,95412009,NA +GARD:0007396,Orphanet,66627,Exact +GARD:0007396,ICD-10,M12.2,Exact +GARD:0007396,UMLS,C0039106,Exact +GARD:0007396,ICD-11,XH52J9,Exact +GARD:0007396,MeSH,D013586,Exact +GARD:0007399,Orphanet,231662,Exact +GARD:0007399,OMIM,262400,Exact +GARD:0007399,OMIM,618160,Exact +GARD:0007399,ICD-10,E23.0,NTBT +GARD:0007401,Orphanet,2897,Exact +GARD:0007401,UMLS,C0032027,Exact +GARD:0007401,OMIM,173200,Exact +GARD:0007401,MeSH,D010916,Exact +GARD:0007401,MedDRA,10035116,Exact +GARD:0007401,ICD-11,EA94,Exact +GARD:0007401,ICD-10,L44.0,Exact +GARD:0007401,SNOMED-CT,3755001,NA +GARD:0007403,Orphanet,99928,Exact +GARD:0007403,ICD-10,D39.2,NTBT +GARD:0007403,MeSH,D018245,Exact +GARD:0007403,UMLS,C0206666,Exact +GARD:0007403,SNOMED-CT,237252008,NA +GARD:0007411,Orphanet,2905,Exact +GARD:0007411,MeSH,D016878,Exact +GARD:0007411,ICD-10,D47.7,NTBT +GARD:0007411,UMLS,C1510415,Exact +GARD:0007411,MedDRA,10053869,Exact +GARD:0007411,UMLS,C0085404,Exact +GARD:0007411,SNOMED-CT,79268002,NA +GARD:0007412,Orphanet,2911,Exact +GARD:0007412,UMLS,C0032357,Exact +GARD:0007412,MeSH,D011045,Exact +GARD:0007412,ICD-10,Q79.8,NTBT +GARD:0007412,MedDRA,10036007,Exact +GARD:0007412,ICD-11,LB73.10,Exact +GARD:0007412,OMIM,173800,Exact +GARD:0007412,SNOMED-CT,38371006,NA +GARD:0007413,SNOMED-CT,721764008,NA +GARD:0007413,Orphanet,2912,Exact +GARD:0007413,ICD-10,A80.1,BTNT +GARD:0007413,MedDRA,10036012,Exact +GARD:0007413,ICD-10,A80.4,BTNT +GARD:0007413,ICD-10,A80.2,BTNT +GARD:0007413,ICD-10,A80.9,BTNT +GARD:0007413,ICD-11,1C81,Exact +GARD:0007413,ICD-10,A80.0,BTNT +GARD:0007413,UMLS,C0032371,Exact +GARD:0007413,ICD-10,A80.3,BTNT +GARD:0007413,MeSH,D011051,Exact +GARD:0007415,Orphanet,439729,Exact +GARD:0007415,ICD-10,M30.0,NTBT +GARD:0007417,Orphanet,728,Exact +GARD:0007417,SNOMED-CT,72275000,NA +GARD:0007417,ICD-11,FB82.3,Exact +GARD:0007417,MedDRA,10038304,Exact +GARD:0007417,UMLS,C0032453,Exact +GARD:0007417,MeSH,D011081,Exact +GARD:0007417,ICD-10,M94.1,Exact +GARD:0007422,Orphanet,729,Exact +GARD:0007422,OMIM,263300,Exact +GARD:0007422,MedDRA,10036057,Exact +GARD:0007422,SNOMED-CT,109992005,NA +GARD:0007422,UMLS,C0032463,Exact +GARD:0007422,ICD-10,D45,Exact +GARD:0007422,MeSH,D011087,Exact +GARD:0007422,ICD-11,2A20.4,Exact +GARD:0007425,SNOMED-CT,31384009,NA +GARD:0007425,Orphanet,732,Exact +GARD:0007425,ICD-11,4A41.1,Exact +GARD:0007425,MeSH,D017285,Exact +GARD:0007425,ICD-10,M33.2,Exact +GARD:0007425,UMLS,C0085655,Exact +GARD:0007425,MedDRA,10036102,Exact +GARD:0007430,Orphanet,2940,Exact +GARD:0007430,MedDRA,10036172,Exact +GARD:0007430,ICD-10,Q04.6,NTBT +GARD:0007430,SNOMED-CT,65705009,NA +GARD:0007430,UMLS,C0302892,Exact +GARD:0007430,ICD-11,LA05.60,Exact +GARD:0007430,OMIM,614483,BTNT +GARD:0007430,OMIM,175780,BTNT +GARD:0007433,Orphanet,101330,Exact +GARD:0007433,ICD-10,E80.1,Exact +GARD:0007433,MeSH,D017119,Exact +GARD:0007433,ICD-11,5C58.10,Exact +GARD:0007433,OMIM,176090,BTNT +GARD:0007433,OMIM,176100,BTNT +GARD:0007433,MedDRA,10036183,Exact +GARD:0007433,UMLS,C0162566,Exact +GARD:0007433,SNOMED-CT,61860000,NA +GARD:0007439,SNOMED-CT,253900005,NA +GARD:0007439,Orphanet,93110,Exact +GARD:0007439,MedDRA,10036369,Exact +GARD:0007439,UMLS,C0238506,Exact +GARD:0007439,UMLS,C0542520,Exact +GARD:0007439,OMIM,618612,Exact +GARD:0007439,ICD-10,Q64.2,NTBT +GARD:0007446,SNOMED-CT,400179000,NA +GARD:0007446,Orphanet,95708,Exact +GARD:0007446,UMLS,C0034013,Exact +GARD:0007446,ICD-10,E30.1,ND (not yet decided/unable to decide) +GARD:0007446,MedDRA,10058084,Exact +GARD:0007446,ICD-10,E22.8,ND (not yet decided/unable to decide) +GARD:0007446,MedDRA,10044701,Exact +GARD:0007446,MeSH,D011629,Exact +GARD:0007459,Orphanet,186,Exact +GARD:0007459,OMIM,614221,BTNT +GARD:0007459,UMLS,C0008312,Exact +GARD:0007459,MedDRA,10019137,Exact +GARD:0007459,OMIM,613007,BTNT +GARD:0007459,OMIM,614220,BTNT +GARD:0007459,ICD-11,DB96.1,Exact +GARD:0007459,ICD-10,K74.3,Exact +GARD:0007459,MedDRA,10004661,Exact +GARD:0007459,UMLS,C0859942,Exact +GARD:0007459,OMIM,613008,BTNT +GARD:0007459,OMIM,109720,BTNT +GARD:0007459,SNOMED-CT,31712002,NA +GARD:0007467,Orphanet,740,Exact +GARD:0007467,MedDRA,10036794,Exact +GARD:0007467,UMLS,C0033300,Exact +GARD:0007467,MeSH,D011371,Exact +GARD:0007467,OMIM,176670,Exact +GARD:0007467,ICD-10,E34.8,NTBT +GARD:0007467,SNOMED-CT,238870004,NA +GARD:0007468,Orphanet,217260,Exact +GARD:0007468,ICD-10,A81.2,Exact +GARD:0007468,MedDRA,10036807,Exact +GARD:0007468,ICD-11,8A45.02,Exact +GARD:0007468,UMLS,C0023524,Exact +GARD:0007468,MeSH,D007968,Exact +GARD:0007468,SNOMED-CT,22255007,NA +GARD:0007471,Orphanet,683,Exact +GARD:0007471,MeSH,D013494,Exact +GARD:0007471,OMIM,260540,BTNT +GARD:0007471,UMLS,C0038868,Exact +GARD:0007471,OMIM,610898,BTNT +GARD:0007471,MedDRA,10036813,Exact +GARD:0007471,ICD-11,8A00.10,Exact +GARD:0007471,OMIM,601104,BTNT +GARD:0007471,ICD-10,G23.1,Exact +GARD:0007471,OMIM,609454,BTNT +GARD:0007471,SNOMED-CT,192976002,NA +GARD:0007473,SNOMED-CT,360994007,NA +GARD:0007473,Orphanet,742,Exact +GARD:0007473,ICD-11,5C50.F0,Exact +GARD:0007473,UMLS,C0268532,Exact +GARD:0007473,ICD-10,E72.8,NTBT +GARD:0007473,OMIM,170100,Exact +GARD:0007473,UMLS,C1534653,Exact +GARD:0007473,MeSH,D056732,Exact +GARD:0007475,Orphanet,744,Exact +GARD:0007475,OMIM,176920,Exact +GARD:0007475,UMLS,C0085261,Exact +GARD:0007475,ICD-10,Q87.3,NTBT +GARD:0007475,MeSH,D016715,Exact +GARD:0007475,SNOMED-CT,23150001,NA +GARD:0007479,Orphanet,2970,Exact +GARD:0007479,MedDRA,10051025,Exact +GARD:0007479,OMIM,100100,Exact +GARD:0007479,ICD-10,Q79.4,NTBT +GARD:0007479,UMLS,C0033770,Exact +GARD:0007479,ICD-11,LD2F.10,Exact +GARD:0007479,MeSH,D011535,Exact +GARD:0007479,UMLS,C0265363,Exact +GARD:0007479,MeSH,C536477,Exact +GARD:0007479,SNOMED-CT,5187006,NA +GARD:0007482,Orphanet,132,Exact +GARD:0007482,MeSH,C537417,Exact +GARD:0007482,ICD-10,E88.8,NTBT +GARD:0007482,OMIM,617936,Exact +GARD:0007482,UMLS,C1283400,Exact +GARD:0007482,SNOMED-CT,360619001,NA +GARD:0007486,Orphanet,79443,Exact +GARD:0007486,UMLS,C3494506,Exact +GARD:0007486,OMIM,103580,Exact +GARD:0007486,ICD-10,E20.1,NTBT +GARD:0007486,SNOMED-CT,58833000,NA +GARD:0007488,Orphanet,26790,Exact +GARD:0007488,ICD-10,C78.6,NTBT +GARD:0007488,MedDRA,10037138,Exact +GARD:0007488,SNOMED-CT,307601000,NA +GARD:0007488,MeSH,D011553,Exact +GARD:0007488,UMLS,C0033822,Exact +GARD:0007499,SNOMED-CT,707443007,NA +GARD:0007499,Orphanet,747,Exact +GARD:0007499,ICD-10,J84.0,NTBT +GARD:0007499,UMLS,C1970472,Exact +GARD:0007499,OMIM,610910,Exact +GARD:0007501,Orphanet,182090,Exact +GARD:0007501,UMLS,C1701938,Exact +GARD:0007501,UMLS,C0152171,Exact +GARD:0007501,MeSH,C536282,Exact +GARD:0007501,ICD-11,BB01.0,Exact +GARD:0007501,MedDRA,10064911,Exact +GARD:0007501,UMLS,C2973725,Exact +GARD:0007503,Orphanet,580951,Exact +GARD:0007503,ICD-10,H31.0,NTBT +GARD:0007510,Orphanet,48104,Exact +GARD:0007510,ICD-10,L88,Exact +GARD:0007510,ICD-11,EB21,Exact +GARD:0007510,UMLS,C0085652,Exact +GARD:0007510,MedDRA,10037635,Exact +GARD:0007510,MeSH,D017511,Exact +GARD:0007510,SNOMED-CT,74578003,NA +GARD:0007512,SNOMED-CT,87694001,NA +GARD:0007512,Orphanet,3008,Exact +GARD:0007512,OMIM,266150,Exact +GARD:0007512,ICD-10,E74.4,NTBT +GARD:0007512,UMLS,C0034341,Exact +GARD:0007512,MeSH,D015324,Exact +GARD:0007512,ICD-11,5C53.03,Exact +GARD:0007512,UMLS,C2931141,Exact +GARD:0007513,Orphanet,765,Exact +GARD:0007513,UMLS,C0034345,Exact +GARD:0007513,MeSH,D015325,Exact +GARD:0007513,OMIM,312170,BTNT +GARD:0007513,OMIM,245349,BTNT +GARD:0007513,UMLS,C2936911,Exact +GARD:0007513,OMIM,608782,BTNT +GARD:0007513,ICD-10,E74.4,NTBT +GARD:0007513,OMIM,614111,BTNT +GARD:0007513,OMIM,245348,BTNT +GARD:0007513,ICD-11,5C53.02,Exact +GARD:0007513,MeSH,C536257,Exact +GARD:0007513,OMIM,246900,BTNT +GARD:0007513,SNOMED-CT,46683007,NA +GARD:0007514,Orphanet,766,Exact +GARD:0007514,OMIM,266200,Exact +GARD:0007514,ICD-10,D55.2,NTBT +GARD:0007514,UMLS,C0340968,Exact +GARD:0007514,SNOMED-CT,191178002,NA +GARD:0007515,SNOMED-CT,186788009,NA +GARD:0007515,Orphanet,781,Exact +GARD:0007515,MeSH,D011778,Exact +GARD:0007515,MedDRA,10037688,Exact +GARD:0007515,ICD-11,DB98.3,Exact +GARD:0007515,ICD-10,A78,Exact +GARD:0007515,UMLS,C2973787,Exact +GARD:0007515,UMLS,C0034362,Exact +GARD:0007515,MedDRA,10037731,Exact +GARD:0007516,SNOMED-CT,14168008,NA +GARD:0007516,Orphanet,770,Exact +GARD:0007516,MedDRA,10037742,Exact +GARD:0007516,ICD-10,A82.1,BTNT +GARD:0007516,UMLS,C0034494,Exact +GARD:0007516,ICD-10,A82.9,BTNT +GARD:0007516,MeSH,D011818,Exact +GARD:0007516,ICD-10,A82.0,BTNT +GARD:0007523,Orphanet,3019,Exact +GARD:0007523,ICD-10,Q87.8,NTBT +GARD:0007523,OMIM,266270,Exact +GARD:0007523,UMLS,C0796133,Exact +GARD:0007523,MeSH,C535285,Exact +GARD:0007523,SNOMED-CT,389273002,NA +GARD:0007525,Orphanet,3020,Exact +GARD:0007525,ICD-10,B02.2+,NTBT +GARD:0007525,ICD-10,G53.0*,NTBT +GARD:0007525,UMLS,C0017409,Exact +GARD:0007525,SNOMED-CT,21954000,NA +GARD:0007548,Orphanet,69076,Exact +GARD:0007548,UMLS,C3245525,Exact +GARD:0007548,OMIM,233100,Exact +GARD:0007548,ICD-10,E74.8,NTBT +GARD:0007548,UMLS,C0017980,Exact +GARD:0007548,SNOMED-CT,226309007,NA +GARD:0007552,Orphanet,314822,Exact +GARD:0007552,ICD-10,N25.8,NTBT +GARD:0007563,Orphanet,790,Exact +GARD:0007563,ICD-10,C69.2,Exact +GARD:0007563,OMIM,180200,Exact +GARD:0007563,UMLS,C0035335,Exact +GARD:0007563,MeSH,D012175,Exact +GARD:0007563,MedDRA,10038916,Exact +GARD:0007563,SNOMED-CT,370967009,NA +GARD:0007563,ICD-11,2D02.2,Exact +GARD:0007570,Orphanet,3096,Exact +GARD:0007570,ICD-11,8E46,Exact +GARD:0007570,MeSH,D012202,Exact +GARD:0007570,ICD-10,G93.7,NTBT +GARD:0007570,MedDRA,10039012,Exact +GARD:0007570,UMLS,C0035400,Exact +GARD:0007570,SNOMED-CT,74351001,NA +GARD:0007572,SNOMED-CT,1156418001,NA +GARD:0007572,Orphanet,69077,Exact +GARD:0007572,ICD-10,C49.9,NTBT +GARD:0007572,OMIM,613325,BTNT +GARD:0007572,OMIM,609322,BTNT +GARD:0007572,UMLS,C0206743,Exact +GARD:0007572,MeSH,D018335,Exact +GARD:0007581,Orphanet,1764,Exact +GARD:0007581,ICD-11,8C21.1,Exact +GARD:0007581,MeSH,D004402,Exact +GARD:0007581,MedDRA,10039179,Exact +GARD:0007581,OMIM,223900,Exact +GARD:0007581,UMLS,C0013364,Exact +GARD:0007581,ICD-10,G90.1,Exact +GARD:0007581,SNOMED-CT,29159009,NA +GARD:0007585,Orphanet,83311,Exact +GARD:0007585,UMLS,C0035793,Exact +GARD:0007585,ICD-11,1C31.0,Exact +GARD:0007585,ICD-10,A77.0,Exact +GARD:0007585,MedDRA,10039207,Exact +GARD:0007585,MeSH,D012373,Exact +GARD:0007585,SNOMED-CT,186772009,NA +GARD:0007588,Orphanet,158014,Exact +GARD:0007588,MedDRA,10063397,Exact +GARD:0007588,ICD-10,D76.3,NTBT +GARD:0007588,SNOMED-CT,34287003,NA +GARD:0007593,Orphanet,783,Exact +GARD:0007593,UMLS,C0035934,Exact +GARD:0007593,MeSH,D012415,Exact +GARD:0007593,OMIM,610543,BTNT +GARD:0007593,ICD-10,Q87.2,NTBT +GARD:0007593,MedDRA,10039281,Exact +GARD:0007593,OMIM,613684,BTNT +GARD:0007593,OMIM,180849,BTNT +GARD:0007593,SNOMED-CT,45582004,NA +GARD:0007598,SNOMED-CT,83015004,NA +GARD:0007598,Orphanet,794,Exact +GARD:0007598,ICD-10,Q87.0,NTBT +GARD:0007598,OMIM,101400,Exact +GARD:0007598,UMLS,C0175699,Exact +GARD:0007598,OMIM,180750,BTNT +GARD:0007604,Orphanet,309155,Exact +GARD:0007604,UMLS,C0751490,Exact +GARD:0007604,OMIM,268800,NTBT +GARD:0007604,ICD-10,E75.0,NTBT +GARD:0007604,UMLS,C1849322,Exact +GARD:0007606,SNOMED-CT,60684003,NA +GARD:0007606,Orphanet,793,Exact +GARD:0007606,MedDRA,10051316,Exact +GARD:0007606,ICD-11,4A61,Exact +GARD:0007606,ICD-10,M86.3,NTBT +GARD:0007606,UMLS,C0263859,Exact +GARD:0007607,Orphanet,797,Exact +GARD:0007607,ICD-10,D86.9,BTNT +GARD:0007607,OMIM,181000,Exact +GARD:0007607,OMIM,612387,BTNT +GARD:0007607,MedDRA,10039486,Exact +GARD:0007607,ICD-10,D86.0,BTNT +GARD:0007607,UMLS,C0036202,Exact +GARD:0007607,MeSH,D012507,Exact +GARD:0007607,ICD-10,D86.2,BTNT +GARD:0007607,ICD-10,D86.1,BTNT +GARD:0007607,ICD-10,D86.3,BTNT +GARD:0007607,ICD-10,D86.8,BTNT +GARD:0007607,OMIM,612388,BTNT +GARD:0007607,SNOMED-CT,31541009,NA +GARD:0007608,Orphanet,431272,Exact +GARD:0007608,ICD-10,G71.0,NTBT +GARD:0007608,OMIM,300695,Exact +GARD:0007608,SNOMED-CT,784352007,NA +GARD:0007610,Orphanet,3135,Exact +GARD:0007610,OMIM,181440,Exact +GARD:0007610,ICD-10,M42.0,NTBT +GARD:0007610,SNOMED-CT,725411000,NA +GARD:0007610,UMLS,C0036310,Exact +GARD:0007610,ICD-11,FB82.1,Exact +GARD:0007611,Orphanet,3143,Exact +GARD:0007611,OMIM,269200,Exact +GARD:0007611,UMLS,C0085860,Exact +GARD:0007611,ICD-11,5B00,NTBT +GARD:0007611,ICD-10,E31.0,Exact +GARD:0007611,SNOMED-CT,83728000,NA +GARD:0007615,Orphanet,167635,Exact +GARD:0007615,MedDRA,10055046,Exact +GARD:0007615,ICD-10,L98.5,NTBT +GARD:0007615,MeSH,D053718,Exact +GARD:0007615,UMLS,C0263390,Exact +GARD:0007615,SNOMED-CT,402468007,NA +GARD:0007617,Orphanet,454745,Exact +GARD:0007617,OMIM,245300,BTNT +GARD:0007617,ICD-10,A81.8,NTBT +GARD:0007617,UMLS,C0022802,Exact +GARD:0007627,Orphanet,3157,Exact +GARD:0007627,ICD-11,5A61.0,NTBT +GARD:0007627,MeSH,D025962,Exact +GARD:0007627,MedDRA,10067159,Exact +GARD:0007627,SNOMED-CT,7611002,NA +GARD:0007627,UMLS,C0162809,Exact +GARD:0007627,ICD-10,Q04.4,Exact +GARD:0007627,OMIM,182230,Exact +GARD:0007627,UMLS,C0338503,Exact +GARD:0007628,Orphanet,183660,Exact +GARD:0007628,MeSH,D016511,Exact +GARD:0007628,UMLS,C0085110,Exact +GARD:0007628,ICD-10,D81.3,BTNT +GARD:0007628,ICD-10,D81.0,BTNT +GARD:0007628,MedDRA,10069566,Exact +GARD:0007628,ICD-10,D81.9,BTNT +GARD:0007628,ICD-10,D81.1,BTNT +GARD:0007628,ICD-10,D81.2,BTNT +GARD:0007629,Orphanet,3162,Exact +GARD:0007629,ICD-11,2B02,Exact +GARD:0007629,MedDRA,10040493,Exact +GARD:0007629,SNOMED-CT,118611004,NA +GARD:0007629,UMLS,C0036920,Exact +GARD:0007629,MeSH,D012751,Exact +GARD:0007629,ICD-10,C84.1,NTBT +GARD:0007630,Orphanet,91355,Exact +GARD:0007630,ICD-10,E23.0,NTBT +GARD:0007630,MedDRA,10036297,Exact +GARD:0007630,SNOMED-CT,237684005,NA +GARD:0007630,UMLS,C0242342,Exact +GARD:0007633,Orphanet,3163,Exact +GARD:0007633,UMLS,C0878684,Exact +GARD:0007633,ICD-10,Q87.1,NTBT +GARD:0007633,MeSH,C537327,Exact +GARD:0007633,SNOMED-CT,237608006,NA +GARD:0007633,OMIM,269880,Exact +GARD:0007639,Orphanet,812,Exact +GARD:0007639,UMLS,C0268226,Exact +GARD:0007639,OMIM,256550,NTBT +GARD:0007639,UMLS,C1850510,Exact +GARD:0007639,ICD-10,E77.1,NTBT +GARD:0007639,UMLS,C0023806,Exact +GARD:0007639,SNOMED-CT,723675006,NA +GARD:0007649,Orphanet,373,Exact +GARD:0007649,UMLS,C0796154,Exact +GARD:0007649,ICD-10,Q87.3,NTBT +GARD:0007649,OMIM,312870,Exact +GARD:0007649,MeSH,C537340,Exact +GARD:0007649,SNOMED-CT,439143004,NA +GARD:0007652,Orphanet,3169,Exact +GARD:0007652,MedDRA,10049216,Exact +GARD:0007652,MeSH,C538595,Exact +GARD:0007652,ICD-10,Q87.2,NTBT +GARD:0007652,OMIM,600145,NTBT +GARD:0007652,SNOMED-CT,723973002,NA +GARD:0007652,ICD-11,LD2F.12,Exact +GARD:0007652,UMLS,C0037205,Exact +GARD:0007653,SNOMED-CT,238104009,NA +GARD:0007653,Orphanet,2882,Exact +GARD:0007653,ICD-10,E78.0,NTBT +GARD:0007653,UMLS,C0342907,Exact +GARD:0007653,OMIM,210250,Exact +GARD:0007653,OMIM,618666,BTNT +GARD:0007653,MeSH,C537345,Exact +GARD:0007653,MedDRA,10063985,Exact +GARD:0007654,SNOMED-CT,111303009,NA +GARD:0007654,Orphanet,816,Exact +GARD:0007654,OMIM,270200,Exact +GARD:0007654,MedDRA,10048676,Exact +GARD:0007654,ICD-10,Q87.1,Exact +GARD:0007654,UMLS,C0037231,Exact +GARD:0007654,MeSH,D016111,Exact +GARD:0007654,ICD-11,5C52.03,Exact +GARD:0007664,SNOMED-CT,716745004,NA +GARD:0007664,Orphanet,820,Exact +GARD:0007664,UMLS,C0282492,Exact +GARD:0007664,MeSH,D018860,Exact +GARD:0007664,ICD-11,4A44.6,Exact +GARD:0007664,MedDRA,10053841,Exact +GARD:0007664,ICD-10,I77.8,NTBT +GARD:0007664,OMIM,182410,Exact +GARD:0007672,Orphanet,79225,Exact +GARD:0007672,UMLS,C0037899,Exact +GARD:0007672,MeSH,D013106,Exact +GARD:0007672,ICD-10,E75.2,BTNT +GARD:0007672,ICD-10,E75.1,BTNT +GARD:0007672,ICD-10,E75.3,BTNT +GARD:0007672,ICD-10,E75.0,BTNT +GARD:0007672,SNOMED-CT,238028008,NA +GARD:0007673,Orphanet,823,Exact +GARD:0007673,UMLS,C0080178,Exact +GARD:0007673,OMIM,301410,BTNT +GARD:0007673,ICD-10,Q05.9,BTNT +GARD:0007673,ICD-10,Q05.8,BTNT +GARD:0007673,OMIM,601634,BTNT +GARD:0007673,ICD-10,Q05.0,BTNT +GARD:0007673,ICD-10,Q05.4,BTNT +GARD:0007673,ICD-10,Q05.6,BTNT +GARD:0007673,OMIM,182940,BTNT +GARD:0007673,MeSH,D016135,Exact +GARD:0007673,ICD-10,Q05.1,BTNT +GARD:0007673,MedDRA,10041524,Exact +GARD:0007673,ICD-10,Q05.3,BTNT +GARD:0007673,ICD-10,Q05.2,BTNT +GARD:0007673,ICD-10,Q05.7,BTNT +GARD:0007673,ICD-10,Q05.5,BTNT +GARD:0007673,SNOMED-CT,67531005,NA +GARD:0007687,Orphanet,253,Exact +GARD:0007687,ICD-11,LD24.3,Exact +GARD:0007687,ICD-10,Q77.7,Exact +GARD:0007687,MedDRA,10062920,Exact +GARD:0007687,UMLS,C0038015,Exact +GARD:0007690,Orphanet,356,Exact +GARD:0007690,MeSH,D016098,Exact +GARD:0007690,UMLS,C0017495,Exact +GARD:0007690,MedDRA,10072075,Exact +GARD:0007690,ICD-11,8E02.1,Exact +GARD:0007690,ICD-10,A81.8,NTBT +GARD:0007690,OMIM,137440,Exact +GARD:0007690,SNOMED-CT,67155006,NA +GARD:0007692,Orphanet,826,Exact +GARD:0007692,ICD-10,B42.1,BTNT +GARD:0007692,MedDRA,10041736,Exact +GARD:0007692,MeSH,D013174,Exact +GARD:0007692,ICD-10,B42.8,BTNT +GARD:0007692,ICD-10,B42.0,BTNT +GARD:0007692,ICD-10,B42.9,BTNT +GARD:0007692,UMLS,C0038034,Exact +GARD:0007692,ICD-10,B42.7,BTNT +GARD:0007692,SNOMED-CT,42094007,NA +GARD:0007693,Orphanet,3181,Exact +GARD:0007693,MedDRA,10010455,Exact +GARD:0007693,UMLS,C0152438,Exact +GARD:0007693,ICD-11,LB72.1,Exact +GARD:0007693,ICD-10,Q74.0,NTBT +GARD:0007693,MeSH,C535802,Exact +GARD:0007693,SNOMED-CT,79120002,NA +GARD:0007693,OMIM,184400,Exact +GARD:0007695,Orphanet,22,Exact +GARD:0007695,UMLS,C0268631,Exact +GARD:0007695,ICD-10,E72.8,NTBT +GARD:0007695,OMIM,271980,Exact +GARD:0007695,SNOMED-CT,49748000,NA +GARD:0007700,SNOMED-CT,73442001,NA +GARD:0007700,Orphanet,36426,Exact +GARD:0007700,MeSH,D013262,Exact +GARD:0007700,UMLS,C0038325,Exact +GARD:0007700,ICD-11,EB13.0,Exact +GARD:0007700,ICD-10,L51.1,NTBT +GARD:0007700,MedDRA,10042033,Exact +GARD:0007700,OMIM,608579,NTBT +GARD:0007706,Orphanet,3205,Exact +GARD:0007706,OMIM,185300,Exact +GARD:0007706,ICD-10,Q85.8,NTBT +GARD:0007706,MeSH,D013341,Exact +GARD:0007706,UMLS,C0038505,Exact +GARD:0007706,MedDRA,10057653,Exact +GARD:0007706,MedDRA,10042265,Exact +GARD:0007706,SNOMED-CT,19886006,NA +GARD:0007708,SNOMED-CT,359686005,NA +GARD:0007708,Orphanet,2806,Exact +GARD:0007708,OMIM,260470,Exact +GARD:0007708,ICD-10,A81.1,NTBT +GARD:0007708,UMLS,C0038522,Exact +GARD:0007710,Orphanet,35122,Exact +GARD:0007710,MeSH,C538139,Exact +GARD:0007710,OMIM,222900,Exact +GARD:0007710,ICD-11,5C61.2,Exact +GARD:0007710,UMLS,C1283620,Exact +GARD:0007710,MedDRA,10066387,Exact +GARD:0007710,ICD-10,E74.3,NTBT +GARD:0007710,SNOMED-CT,78373000,NA +GARD:0007712,Orphanet,622099,Exact +GARD:0007713,SNOMED-CT,702575003,NA +GARD:0007713,Orphanet,838,Exact +GARD:0007713,UMLS,C2717757,Exact +GARD:0007713,MedDRA,10071573,Exact +GARD:0007713,MeSH,D055955,Exact +GARD:0007713,ICD-10,I67.7,NTBT +GARD:0007716,SNOMED-CT,46826000,NA +GARD:0007716,Orphanet,306731,Exact +GARD:0007716,MedDRA,10042732,Exact +GARD:0007716,ICD-10,I02.9,ND (not yet decided/unable to decide) +GARD:0007716,ICD-10,I02.0,ND (not yet decided/unable to decide) +GARD:0007716,UMLS,C0152113,Exact +GARD:0007721,Orphanet,3273,Exact +GARD:0007721,MedDRA,10042863,Exact +GARD:0007721,ICD-10,C49.9,NTBT +GARD:0007721,UMLS,C0039101,Exact +GARD:0007721,OMIM,300813,Exact +GARD:0007721,SNOMED-CT,302851001,NA +GARD:0007725,Orphanet,3280,Exact +GARD:0007725,UMLS,C0039144,Exact +GARD:0007725,MedDRA,10042928,Exact +GARD:0007725,ICD-10,G95.0,Exact +GARD:0007725,UMLS,C1861301,Exact +GARD:0007725,UMLS,C0152444,Exact +GARD:0007725,OMIM,186700,Exact +GARD:0007725,MeSH,D013595,Exact +GARD:0007725,ICD-11,8D66,NTBT +GARD:0007725,ICD-10,Q06.4,Exact +GARD:0007725,SNOMED-CT,111496009,NA +GARD:0007730,SNOMED-CT,359789008,NA +GARD:0007730,Orphanet,3287,Exact +GARD:0007730,ICD-10,M31.4,Exact +GARD:0007730,MedDRA,10043097,Exact +GARD:0007730,MeSH,D013625,Exact +GARD:0007730,ICD-11,4A44.1,Exact +GARD:0007730,OMIM,207600,Exact +GARD:0007730,UMLS,C0039263,Exact +GARD:0007731,Orphanet,31150,Exact +GARD:0007731,ICD-10,E78.6,NTBT +GARD:0007731,OMIM,205400,Exact +GARD:0007731,MedDRA,10051875,Exact +GARD:0007731,UMLS,C0039292,Exact +GARD:0007731,MeSH,D013631,Exact +GARD:0007731,SNOMED-CT,723579009,NA +GARD:0007737,Orphanet,845,Exact +GARD:0007737,UMLS,C0039373,Exact +GARD:0007737,MeSH,D013661,Exact +GARD:0007737,ICD-10,E75.0,NTBT +GARD:0007737,OMIM,272800,Exact +GARD:0007737,MedDRA,10043147,Exact +GARD:0007737,UMLS,C1848922,Exact +GARD:0007737,SNOMED-CT,111385000,NA +GARD:0007743,Orphanet,95455,Exact +GARD:0007743,SNOMED-CT,768946000,NA +GARD:0007743,OMIM,608579,NTBT +GARD:0007743,ICD-10,L51.2,Exact +GARD:0007743,MeSH,D004816,Exact +GARD:0007743,UMLS,C0014518,Exact +GARD:0007743,MedDRA,10044223,Exact +GARD:0007743,ICD-11,EB13,Exact +GARD:0007751,Orphanet,238583,Exact +GARD:0007751,OMIM,233910,BTNT +GARD:0007751,ICD-10,E70.1,NTBT +GARD:0007751,OMIM,264070,BTNT +GARD:0007751,OMIM,261640,BTNT +GARD:0007751,UMLS,C0751435,Exact +GARD:0007751,OMIM,261630,BTNT +GARD:0007751,UMLS,C0751436,Exact +GARD:0007751,SNOMED-CT,237913008,NA +GARD:0007754,SNOMED-CT,10567003,NA +GARD:0007754,Orphanet,9,Exact +GARD:0007754,ICD-10,Q97.1,NTBT +GARD:0007754,MeSH,C536502,Exact +GARD:0007754,UMLS,C0265496,Exact +GARD:0007759,Orphanet,97330,Exact +GARD:0007759,UMLS,C0039984,Exact +GARD:0007759,MeSH,D013901,Exact +GARD:0007759,ICD-10,G54.0,NTBT +GARD:0007759,MedDRA,10048627,Exact +GARD:0007759,SNOMED-CT,128210009,NA +GARD:0007772,SNOMED-CT,403805009,NA +GARD:0007772,Orphanet,42665,Exact +GARD:0007772,MeSH,C536919,Exact +GARD:0007772,UMLS,C0391816,Exact +GARD:0007772,OMIM,103500,Exact +GARD:0007777,Orphanet,64686,Exact +GARD:0007777,MeSH,C531833,Exact +GARD:0007777,UMLS,C0040381,Exact +GARD:0007777,MedDRA,10051526,Exact +GARD:0007777,SNOMED-CT,95794005,NA +GARD:0007777,UMLS,C0392060,Exact +GARD:0007777,MeSH,D020333,Exact +GARD:0007777,ICD-10,H49.8,NTBT +GARD:0007784,SNOMED-CT,24750000,NA +GARD:0007784,Orphanet,857,Exact +GARD:0007784,UMLS,C0265246,Exact +GARD:0007784,ICD-10,Q87.8,NTBT +GARD:0007784,OMIM,617466,Exact +GARD:0007784,OMIM,107480,Exact +GARD:0007784,MeSH,C536974,Exact +GARD:0007793,Orphanet,98871,Exact +GARD:0007793,ICD-10,D60.1,Exact +GARD:0007793,MeSH,C536980,Exact +GARD:0007793,UMLS,C0238478,Exact +GARD:0007793,OMIM,227050,Exact +GARD:0007793,SNOMED-CT,234375006,NA +GARD:0007795,Orphanet,216675,Exact +GARD:0007795,ICD-10,Q20.5,BTNT +GARD:0007795,ICD-10,Q20.3,BTNT +GARD:0007795,UMLS,C0040761,Exact +GARD:0007799,Orphanet,3352,Exact +GARD:0007799,MeSH,C536549,Exact +GARD:0007799,UMLS,C0265333,Exact +GARD:0007799,OMIM,190320,Exact +GARD:0007799,ICD-10,Q82.4,NTBT +GARD:0007799,SNOMED-CT,38993008,NA +GARD:0007800,OMIM,190350,Exact +GARD:0007800,Orphanet,77258,NTBT +GARD:0007800,GeneticAlliance,9425,NA +GARD:0007800,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/trichorhinophalangeal-syndrome-type-i,NA +GARD:0007800,UMLS,C0432233,NA +GARD:0007800,SNOMED-CT,254091006,NA +GARD:0007800,DiseaseOntology,14743,NA +GARD:0007801,Orphanet,502,Exact +GARD:0007801,UMLS,C2931237,Exact +GARD:0007801,ICD-10,Q87.8,NTBT +GARD:0007801,MeSH,D015826,Exact +GARD:0007801,UMLS,C0023003,Exact +GARD:0007801,OMIM,150230,Exact +GARD:0007801,SNOMED-CT,41069008,NA +GARD:0007801,MeSH,C536555,Exact +GARD:0007801,MedDRA,10050638,Exact +GARD:0007801,ICD-11,LD24.80,Exact +GARD:0007802,OMIM,190351,Exact +GARD:0007802,Orphanet,77258,NTBT +GARD:0007802,DiseaseOntology,80376,NA +GARD:0007802,GeneticAlliance,7205,NA +GARD:0007802,UMLS,C1860823,NA +GARD:0007805,Orphanet,221091,Exact +GARD:0007805,MeSH,D014277,Exact +GARD:0007805,OMIM,190400,Exact +GARD:0007805,MedDRA,10044652,Exact +GARD:0007805,ICD-10,G50.0,Exact +GARD:0007805,UMLS,C0040997,Exact +GARD:0007805,ICD-11,8B82.0,Exact +GARD:0007805,SNOMED-CT,31681005,NA +GARD:0007826,SNOMED-CT,27031003,NA +GARD:0007826,Orphanet,3385,Exact +GARD:0007826,ICD-10,B56.9,BTNT +GARD:0007826,MeSH,D014353,Exact +GARD:0007826,ICD-10,B56.0,BTNT +GARD:0007826,UMLS,C0041228,Exact +GARD:0007826,MedDRA,10001461,Exact +GARD:0007826,ICD-10,B56.1,BTNT +GARD:0007827,Orphanet,3389,Exact +GARD:0007827,ICD-10,A15,BTNT +GARD:0007827,ICD-10,A19,BTNT +GARD:0007827,MeSH,D014376,Exact +GARD:0007827,UMLS,C0041296,Exact +GARD:0007827,ICD-10,A17,BTNT +GARD:0007827,OMIM,607948,BTNT +GARD:0007827,ICD-10,A18,BTNT +GARD:0007827,MedDRA,10044755,Exact +GARD:0007827,ICD-10,A16,BTNT +GARD:0007827,SNOMED-CT,56717001,NA +GARD:0007828,Orphanet,499004,Exact +GARD:0007828,ICD-11,1B11.0,Exact +GARD:0007828,ICD-10,A17.0,Exact +GARD:0007830,Orphanet,805,Exact +GARD:0007830,ICD-10,Q85.1,Exact +GARD:0007830,SNOMED-CT,7199000,NA +GARD:0007830,ICD-11,LD2D.2,Exact +GARD:0007830,UMLS,C0041341,Exact +GARD:0007830,MedDRA,10045138,Exact +GARD:0007830,OMIM,191100,BTNT +GARD:0007830,MeSH,D014402,Exact +GARD:0007830,OMIM,613254,BTNT +GARD:0007831,SNOMED-CT,38804009,NA +GARD:0007831,Orphanet,881,Exact +GARD:0007831,ICD-10,Q96.4,BTNT +GARD:0007831,MeSH,D014424,Exact +GARD:0007831,ICD-10,Q96.8,BTNT +GARD:0007831,UMLS,C0041408,Exact +GARD:0007831,UMLS,C0242526,Exact +GARD:0007831,ICD-10,Q96.0,BTNT +GARD:0007831,MedDRA,10045181,Exact +GARD:0007831,ICD-10,Q96.9,BTNT +GARD:0007831,ICD-10,Q96.3,BTNT +GARD:0007831,ICD-10,Q96.2,BTNT +GARD:0007831,ICD-11,LD50.0,Exact +GARD:0007831,ICD-10,Q96.1,BTNT +GARD:0007837,Orphanet,79167,Exact +GARD:0007837,ICD-10,E72.2,NTBT +GARD:0007842,Orphanet,66646,Exact +GARD:0007842,ICD-11,2A21.1,Exact +GARD:0007842,MeSH,D034701,Exact +GARD:0007842,ICD-10,Q82.2,Exact +GARD:0007842,UMLS,C1136033,Exact +GARD:0007842,SNOMED-CT,397012002,NA +GARD:0007843,Orphanet,886,Exact +GARD:0007843,OMIM,601067,BTNT +GARD:0007843,OMIM,611383,BTNT +GARD:0007843,ICD-10,H35.5,NTBT +GARD:0007843,MedDRA,10063396,Exact +GARD:0007843,UMLS,C0271097,Exact +GARD:0007843,OMIM,500004,BTNT +GARD:0007843,OMIM,602083,BTNT +GARD:0007843,OMIM,602097,BTNT +GARD:0007843,OMIM,614990,BTNT +GARD:0007843,OMIM,606943,BTNT +GARD:0007843,OMIM,276904,BTNT +GARD:0007843,ICD-11,LD2H.4,Exact +GARD:0007843,OMIM,276900,BTNT +GARD:0007843,OMIM,605472,BTNT +GARD:0007843,MeSH,D052245,Exact +GARD:0007843,OMIM,612632,BTNT +GARD:0007843,OMIM,276902,BTNT +GARD:0007843,OMIM,276901,BTNT +GARD:0007843,OMIM,614869,BTNT +GARD:0007843,OMIM,614504,BTNT +GARD:0007843,SNOMED-CT,57838006,NA +GARD:0007846,OMIM,606713,Exact +GARD:0007846,DiseaseOntology,60239,NA +GARD:0007846,GeneticAlliance,7347,NA +GARD:0007846,UMLS,C1847604,NA +GARD:0007848,SNOMED-CT,58275005,NA +GARD:0007848,Orphanet,79473,Exact +GARD:0007848,ICD-10,E80.2,NTBT +GARD:0007848,ICD-11,5C58.13,Exact +GARD:0007848,OMIM,176200,Exact +GARD:0007848,UMLS,C0162532,Exact +GARD:0007851,Orphanet,889,Exact +GARD:0007851,ICD-10,M31.0,NTBT +GARD:0007851,UMLS,C0151436,Exact +GARD:0007851,SNOMED-CT,718217000,NA +GARD:0007854,SNOMED-CT,317349009,NA +GARD:0007854,Orphanet,70476,Exact +GARD:0007854,UMLS,C0022577,Exact +GARD:0007854,ICD-10,H16.2,NTBT +GARD:0007854,ICD-11,9A60.5,Exact +GARD:0007855,Orphanet,892,Exact +GARD:0007855,ICD-10,Q85.8,NTBT +GARD:0007855,UMLS,C0019562,Exact +GARD:0007855,OMIM,193300,Exact +GARD:0007855,MeSH,D006623,Exact +GARD:0007855,MedDRA,10047716,Exact +GARD:0007855,SNOMED-CT,46659004,NA +GARD:0007857,SNOMED-CT,190959006,NA +GARD:0007857,Orphanet,158048,Exact +GARD:0007857,UMLS,C0019068,Exact +GARD:0007857,ICD-11,3B62.5,Exact +GARD:0007857,ICD-10,D76.2,Exact +GARD:0007860,Orphanet,79445,Exact +GARD:0007860,OMIM,612463,Exact +GARD:0007860,UMLS,C0033835,Exact +GARD:0007860,MeSH,D011556,Exact +GARD:0007860,ICD-10,E20.1,NTBT +GARD:0007860,SNOMED-CT,237659007,NA +GARD:0007862,Orphanet,3437,Exact +GARD:0007862,UMLS,C0042170,Exact +GARD:0007862,ICD-10,H20.8,NTBT +GARD:0007862,ICD-10,H30.8,NTBT +GARD:0007862,SNOMED-CT,193497004,NA +GARD:0007864,SNOMED-CT,444707001,NA +GARD:0007864,Orphanet,79258,Exact +GARD:0007864,ICD-10,E74.0,NTBT +GARD:0007864,UMLS,C0017920,Exact +GARD:0007864,OMIM,232200,Exact +GARD:0007864,UMLS,C2919796,Exact +GARD:0007866,Orphanet,636,Exact +GARD:0007866,MeSH,C538607,Exact +GARD:0007866,MedDRA,10047712,Exact +GARD:0007866,ICD-10,Q85.0,NTBT +GARD:0007866,UMLS,C0027831,Exact +GARD:0007866,OMIM,162200,BTNT +GARD:0007866,OMIM,613675,BTNT +GARD:0007866,MeSH,D009456,Exact +GARD:0007866,OMIM,162210,BTNT +GARD:0007866,SNOMED-CT,92824003,NA +GARD:0007867,Orphanet,903,Exact +GARD:0007867,MeSH,D014842,Exact +GARD:0007867,ICD-11,3B12,Exact +GARD:0007867,OMIM,193400,BTNT +GARD:0007867,OMIM,277480,BTNT +GARD:0007867,OMIM,314560,BTNT +GARD:0007867,UMLS,C0042974,Exact +GARD:0007867,OMIM,613554,BTNT +GARD:0007867,ICD-10,D68.0,Exact +GARD:0007867,MedDRA,10047715,Exact +GARD:0007867,SNOMED-CT,128105004,NA +GARD:0007871,SNOMED-CT,232064001,NA +GARD:0007871,Orphanet,898,Exact +GARD:0007871,MedDRA,10063383,Exact +GARD:0007871,OMIM,143200,Exact +GARD:0007871,UMLS,C0339540,Exact +GARD:0007871,MeSH,C536075,Exact +GARD:0007871,UMLS,C1840452,Exact +GARD:0007871,ICD-10,H35.5,NTBT +GARD:0007872,SNOMED-CT,190818004,NA +GARD:0007872,Orphanet,33226,Exact +GARD:0007872,OMIM,153600,Exact +GARD:0007872,OMIM,610430,BTNT +GARD:0007872,MeSH,D008258,Exact +GARD:0007872,MedDRA,10047801,Exact +GARD:0007872,ICD-10,C88.0,Exact +GARD:0007872,ICD-11,2A85.4,NTBT +GARD:0007872,UMLS,C0024419,Exact +GARD:0007873,Orphanet,90362,Exact +GARD:0007873,UMLS,C2931241,Exact +GARD:0007873,ICD-10,I89.0,NTBT +GARD:0007873,UMLS,C0267372,Exact +GARD:0007873,MeSH,C536567,Exact +GARD:0007873,OMIM,152800,Exact +GARD:0007873,SNOMED-CT,6124009,NA +GARD:0007876,Orphanet,90033,Exact +GARD:0007876,ICD-10,D59.1,NTBT +GARD:0007876,UMLS,C0272118,Exact +GARD:0007876,MedDRA,10047822,Exact +GARD:0007876,ICD-11,3A20.0,Exact +GARD:0007876,SNOMED-CT,3978000,NA +GARD:0007878,Orphanet,3447,Exact +GARD:0007878,ICD-10,Q87.3,NTBT +GARD:0007878,OMIM,617561,BTNT +GARD:0007878,OMIM,277590,Exact +GARD:0007878,MeSH,C536687,Exact +GARD:0007878,OMIM,618786,BTNT +GARD:0007878,UMLS,C0265210,Exact +GARD:0007878,SNOMED-CT,63119004,NA +GARD:0007879,SNOMED-CT,33760009,NA +GARD:0007879,Orphanet,33577,Exact +GARD:0007879,ICD-11,EF00.Y,NTBT +GARD:0007879,MeSH,D010201,Exact +GARD:0007879,ICD-10,M35.6,Exact +GARD:0007879,UMLS,C0030328,Exact +GARD:0007879,MedDRA,10047883,Exact +GARD:0007880,SNOMED-CT,195353004,NA +GARD:0007880,Orphanet,900,Exact +GARD:0007880,UMLS,C0043092,Exact +GARD:0007880,OMIM,608710,Exact +GARD:0007880,MedDRA,10047888,Exact +GARD:0007880,MeSH,D014890,Exact +GARD:0007880,ICD-10,M31.3,Exact +GARD:0007880,UMLS,C3495801,Exact +GARD:0007880,ICD-11,4A44.A1,Exact +GARD:0007881,Orphanet,509,Exact +GARD:0007881,UMLS,C0023364,Exact +GARD:0007881,ICD-10,A27.0,BTNT +GARD:0007881,ICD-10,A27.9,BTNT +GARD:0007881,MedDRA,10024238,Exact +GARD:0007881,MeSH,D007922,Exact +GARD:0007881,ICD-10,A27.8,BTNT +GARD:0007881,SNOMED-CT,77377001,NA +GARD:0007883,Orphanet,83330,Exact +GARD:0007883,ICD-10,G12.0,Exact +GARD:0007883,ICD-11,8B61.0,Exact +GARD:0007883,UMLS,C0043116,Exact +GARD:0007883,OMIM,253300,Exact +GARD:0007883,SNOMED-CT,64383006,NA +GARD:0007885,Orphanet,902,Exact +GARD:0007885,MeSH,D014898,Exact +GARD:0007885,MedDRA,10049429,Exact +GARD:0007885,UMLS,C0043119,Exact +GARD:0007885,ICD-10,E34.8,NTBT +GARD:0007885,OMIM,277700,Exact +GARD:0007885,SNOMED-CT,51626007,NA +GARD:0007887,SNOMED-CT,28055006,NA +GARD:0007887,Orphanet,3451,Exact +GARD:0007887,OMIM,616139,BTNT +GARD:0007887,MedDRA,10021750,Exact +GARD:0007887,OMIM,618298,BTNT +GARD:0007887,OMIM,300672,BTNT +GARD:0007887,ICD-10,G40.4,NTBT +GARD:0007887,OMIM,617065,BTNT +GARD:0007887,ICD-11,8A62.0,Exact +GARD:0007887,OMIM,613722,BTNT +GARD:0007887,OMIM,615006,BTNT +GARD:0007887,OMIM,613477,BTNT +GARD:0007887,OMIM,616341,BTNT +GARD:0007887,OMIM,617929,BTNT +GARD:0007887,OMIM,308350,BTNT +GARD:0007887,UMLS,C0037769,Exact +GARD:0007888,SNOMED-CT,47523006,NA +GARD:0007888,Orphanet,83593,Exact +GARD:0007888,MedDRA,10014614,Exact +GARD:0007888,UMLS,C0153064,Exact +GARD:0007888,ICD-11,1C83,Exact +GARD:0007888,ICD-10,A83.1,NTBT +GARD:0007889,SNOMED-CT,41545003,NA +GARD:0007889,Orphanet,3452,Exact +GARD:0007889,ICD-10,K90.8+,NTBT +GARD:0007889,MeSH,D008061,Exact +GARD:0007889,ICD-10,M14.8*,NTBT +GARD:0007889,UMLS,C0023788,Exact +GARD:0007889,MeSH,C531849,Exact +GARD:0007889,UMLS,C2930851,Exact +GARD:0007889,MedDRA,10047931,Exact +GARD:0007890,Orphanet,3454,Exact +GARD:0007890,ICD-10,G71.8,NTBT +GARD:0007890,UMLS,C0796200,Exact +GARD:0007890,MeSH,C536703,Exact +GARD:0007890,OMIM,314580,Exact +GARD:0007890,SNOMED-CT,722456001,NA +GARD:0007891,Orphanet,904,Exact +GARD:0007891,MeSH,D018980,Exact +GARD:0007891,UMLS,C0175702,Exact +GARD:0007891,ICD-10,Q93.8,NTBT +GARD:0007891,MedDRA,10049644,Exact +GARD:0007891,OMIM,194050,Exact +GARD:0007891,SNOMED-CT,63247009,NA +GARD:0007892,SNOMED-CT,302849000,NA +GARD:0007892,Orphanet,654,Exact +GARD:0007892,MeSH,D009396,Exact +GARD:0007892,UMLS,C0027708,Exact +GARD:0007892,OMIM,616806,BTNT +GARD:0007892,OMIM,194090,BTNT +GARD:0007892,OMIM,601583,BTNT +GARD:0007892,ICD-10,C64,NTBT +GARD:0007892,MedDRA,10029145,Exact +GARD:0007892,OMIM,601363,BTNT +GARD:0007892,OMIM,194070,BTNT +GARD:0007892,OMIM,194071,BTNT +GARD:0007893,SNOMED-CT,88518009,NA +GARD:0007893,Orphanet,905,Exact +GARD:0007893,ICD-11,5C64.00,Exact +GARD:0007893,MedDRA,10019819,Exact +GARD:0007893,ICD-10,E83.0,NTBT +GARD:0007893,MeSH,D006527,Exact +GARD:0007893,UMLS,C0019202,Exact +GARD:0007893,OMIM,277900,Exact +GARD:0007894,OMIM,277950,Exact +GARD:0007894,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/winchester-syndrome,NA +GARD:0007894,SNOMED-CT,254151006,NA +GARD:0007894,DiseaseOntology,80696,NA +GARD:0007894,UMLS,C0432289,NA +GARD:0007895,Orphanet,906,Exact +GARD:0007895,MedDRA,10047992,Exact +GARD:0007895,OMIM,301000,Exact +GARD:0007895,OMIM,614493,BTNT +GARD:0007895,UMLS,C0043194,Exact +GARD:0007895,MeSH,D014923,Exact +GARD:0007895,ICD-10,D82.0,Exact +GARD:0007895,OMIM,600903,BTNT +GARD:0007895,SNOMED-CT,36070007,NA +GARD:0007896,SNOMED-CT,718226002,NA +GARD:0007896,Orphanet,280,Exact +GARD:0007896,UMLS,C1956097,Exact +GARD:0007896,ICD-10,Q93.3,NTBT +GARD:0007896,OMIM,194190,Exact +GARD:0007896,MedDRA,10050361,Exact +GARD:0007896,MeSH,C536740,Exact +GARD:0007896,MeSH,D054877,Exact +GARD:0007898,Orphanet,3463,Exact +GARD:0007898,ICD-10,E34.8,NTBT +GARD:0007898,OMIM,604928,BTNT +GARD:0007898,MeSH,D014929,Exact +GARD:0007898,OMIM,598500,BTNT +GARD:0007898,OMIM,222300,Exact +GARD:0007898,UMLS,C0043207,Exact +GARD:0007898,SNOMED-CT,70694009,NA +GARD:0007899,Orphanet,75233,Exact +GARD:0007899,MedDRA,10053687,Exact +GARD:0007899,UMLS,C0043208,Exact +GARD:0007899,ICD-10,E75.5,NTBT +GARD:0007899,OMIM,278000,NTBT +GARD:0007899,SNOMED-CT,82500001,NA +GARD:0007899,MeSH,D015223,Exact +GARD:0007900,SNOMED-CT,6729006,NA +GARD:0007900,Orphanet,53719,Exact +GARD:0007900,UMLS,C0265321,Exact +GARD:0007900,MedDRA,10048661,Exact +GARD:0007900,MeSH,C536752,Exact +GARD:0007900,ICD-10,Q28.2,NTBT +GARD:0007904,Orphanet,461,Exact +GARD:0007904,OMIM,308100,Exact +GARD:0007904,OMIM,300001,BTNT +GARD:0007904,SNOMED-CT,72523005,NA +GARD:0007904,ICD-11,EC20.01,Exact +GARD:0007904,UMLS,C2720163,Exact +GARD:0007904,ICD-10,Q80.1,Exact +GARD:0007904,UMLS,C2717836,Exact +GARD:0007904,MeSH,D016114,Exact +GARD:0007904,MedDRA,10048063,Exact +GARD:0007904,UMLS,C0079588,Exact +GARD:0007906,Orphanet,538931,Exact +GARD:0007906,Orphanet,2442,NTBT +GARD:0007906,OMIM,308240,Exact +GARD:0007906,ICD-10,D82.3,NTBT +GARD:0007910,Orphanet,910,Exact +GARD:0007910,OMIM,278730,BTNT +GARD:0007910,OMIM,278700,BTNT +GARD:0007910,ICD-10,Q82.1,Exact +GARD:0007910,MedDRA,10048220,Exact +GARD:0007910,ICD-11,LD27.1,Exact +GARD:0007910,OMIM,610651,BTNT +GARD:0007910,MeSH,D014983,Exact +GARD:0007910,OMIM,278740,BTNT +GARD:0007910,OMIM,278720,BTNT +GARD:0007910,OMIM,278760,BTNT +GARD:0007910,OMIM,278780,BTNT +GARD:0007910,UMLS,C0043346,Exact +GARD:0007910,SNOMED-CT,44600005,NA +GARD:0007914,SNOMED-CT,16541001,NA +GARD:0007914,Orphanet,99829,Exact +GARD:0007914,UMLS,C0043395,Exact +GARD:0007914,ICD-10,A95.0,BTNT +GARD:0007914,ICD-10,A95.1,BTNT +GARD:0007914,MeSH,D015004,Exact +GARD:0007914,MedDRA,10048240,Exact +GARD:0007914,ICD-10,A95.9,BTNT +GARD:0007917,Orphanet,912,Exact +GARD:0007917,OMIM,614883,BTNT +GARD:0007917,OMIM,614882,BTNT +GARD:0007917,UMLS,C0043459,Exact +GARD:0007917,OMIM,214110,BTNT +GARD:0007917,OMIM,614866,BTNT +GARD:0007917,OMIM,614886,BTNT +GARD:0007917,OMIM,617370,NTBT +GARD:0007917,MeSH,D015211,Exact +GARD:0007917,OMIM,614870,BTNT +GARD:0007917,ICD-10,Q87.8,NTBT +GARD:0007917,OMIM,614872,BTNT +GARD:0007917,OMIM,614876,BTNT +GARD:0007917,SNOMED-CT,88469006,NA +GARD:0007917,OMIM,214100,Exact +GARD:0007917,OMIM,614859,BTNT +GARD:0007917,OMIM,614887,BTNT +GARD:0007917,OMIM,614862,BTNT +GARD:0007918,SNOMED-CT,53132006,NA +GARD:0007918,Orphanet,913,Exact +GARD:0007918,MeSH,D015408,Exact +GARD:0007918,ICD-11,5A43.1,Exact +GARD:0007918,ICD-10,E16.4,NTBT +GARD:0007918,UMLS,C0043515,Exact +GARD:0007918,UMLS,C0017150,Exact +GARD:0007918,MedDRA,10017852,Exact +GARD:0007918,MeSH,D015043,Exact +GARD:0007922,Orphanet,98473,Exact +GARD:0007922,MedDRA,10028356,Exact +GARD:0007922,ICD-11,8C70,Exact +GARD:0007922,MeSH,D009136,Exact +GARD:0007922,ICD-10,G71.0,Exact +GARD:0007922,UMLS,C0026850,Exact +GARD:0008169,SNOMED-CT,86422009,NA +GARD:0008169,Orphanet,238593,Exact +GARD:0008169,UMLS,C0267770,Exact +GARD:0008169,ICD-10,K65.8,NTBT +GARD:0008169,UMLS,C0025470,Exact +GARD:0008173,Orphanet,15,Exact +GARD:0008173,MedDRA,10000452,Exact +GARD:0008173,OMIM,100800,Exact +GARD:0008173,UMLS,C0001080,Exact +GARD:0008173,ICD-10,Q77.4,Exact +GARD:0008173,ICD-11,LD24.00,Exact +GARD:0008173,MeSH,D000130,Exact +GARD:0008173,SNOMED-CT,86268005,NA +GARD:0008174,Orphanet,1547,Exact +GARD:0008174,OMIM,123560,Exact +GARD:0008174,ICD-10,Q87.8,NTBT +GARD:0008174,UMLS,C1852454,Exact +GARD:0008174,SNOMED-CT,725096002,NA +GARD:0008178,OMIM,604379,Exact +GARD:0008178,DiseaseOntology,110704,NA +GARD:0008178,UMLS,C3148823,NA +GARD:0008178,GeneticAlliance,7142,NA +GARD:0008178,UMLS,C1836672,NA +GARD:0008182,Orphanet,3250,Exact +GARD:0008182,ICD-10,Q70.9,NTBT +GARD:0008182,MeSH,C536223,Exact +GARD:0008182,OMIM,185800,Exact +GARD:0008182,OMIM,615298,BTNT +GARD:0008182,UMLS,C1861385,Exact +GARD:0008182,SNOMED-CT,205280007,NA +GARD:0008189,Orphanet,2445,Exact +GARD:0008189,OMIM,217095,Exact +GARD:0008189,UMLS,C1857586,Exact +GARD:0008194,Orphanet,1560,Exact +GARD:0008194,ICD-10,B69.1,BTNT +GARD:0008194,MeSH,D003551,Exact +GARD:0008194,ICD-10,B69.9,BTNT +GARD:0008194,ICD-10,B69.8,BTNT +GARD:0008194,MedDRA,10011775,Exact +GARD:0008194,ICD-10,B69.0,BTNT +GARD:0008194,UMLS,C0010678,Exact +GARD:0008194,SNOMED-CT,59051007,NA +GARD:0008195,SNOMED-CT,1214006,NA +GARD:0008195,Orphanet,76,Exact +GARD:0008195,ICD-10,B78.7,BTNT +GARD:0008195,ICD-10,B78.1,BTNT +GARD:0008195,ICD-10,B78.9,BTNT +GARD:0008195,UMLS,C0038463,Exact +GARD:0008195,ICD-10,B78.0,BTNT +GARD:0008195,MedDRA,10042254,Exact +GARD:0008195,MeSH,D013322,Exact +GARD:0008195,UMLS,C0085810,Exact +GARD:0008197,Orphanet,819,Exact +GARD:0008197,MeSH,D058496,Exact +GARD:0008197,ICD-10,Q93.5,NTBT +GARD:0008197,UMLS,C0795864,Exact +GARD:0008197,OMIM,182290,Exact +GARD:0008197,SNOMED-CT,401315004,NA +GARD:0008198,Orphanet,39041,Exact +GARD:0008198,ICD-10,D81.8,NTBT +GARD:0008198,UMLS,C2700553,Exact +GARD:0008198,OMIM,603554,Exact +GARD:0008198,MedDRA,10069097,Exact +GARD:0008198,SNOMED-CT,722067005,NA +GARD:0008204,SNOMED-CT,191306005,NA +GARD:0008204,Orphanet,761,Exact +GARD:0008204,UMLS,C0034152,Exact +GARD:0008204,UMLS,C0086922,Exact +GARD:0008204,ICD-10,D69.0,NTBT +GARD:0008206,Orphanet,1023,Exact +GARD:0008206,MeSH,C536605,Exact +GARD:0008206,ICD-10,Q84.2,NTBT +GARD:0008206,UMLS,C1840362,Exact +GARD:0008206,OMIM,145701,Exact +GARD:0008207,SNOMED-CT,1156473003,NA +GARD:0008207,Orphanet,251912,Exact +GARD:0008207,ICD-10,D44.5,NTBT +GARD:0008207,MedDRA,10035059,Exact +GARD:0008207,UMLS,C0917890,Exact +GARD:0008208,Orphanet,289326,Exact +GARD:0008208,ICD-11,8A45.00,Exact +GARD:0008208,ICD-10,G04.1,Exact +GARD:0008208,UMLS,C0030481,Exact +GARD:0008208,MedDRA,10044696,Exact +GARD:0008208,OMIM,159580,Exact +GARD:0008208,SNOMED-CT,714279000,NA +GARD:0008214,Orphanet,501,Exact +GARD:0008214,ICD-10,G40.3,NTBT +GARD:0008214,UMLS,C0751783,Exact +GARD:0008214,MedDRA,10054030,Exact +GARD:0008214,SNOMED-CT,230425004,NA +GARD:0008214,MeSH,D020192,Exact +GARD:0008214,OMIM,254780,Exact +GARD:0008216,SNOMED-CT,240849009,NA +GARD:0008216,Orphanet,2459,Exact +GARD:0008216,UMLS,C0024759,Exact +GARD:0008216,ICD-11,1F66.1,Exact +GARD:0008216,ICD-10,B74.4,Exact +GARD:0008223,Orphanet,86852,Exact +GARD:0008223,SNOMED-CT,277619001,NA +GARD:0008223,ICD-10,C91.3,NTBT +GARD:0008223,MeSH,D054403,Exact +GARD:0008223,UMLS,C0475801,Exact +GARD:0008225,SNOMED-CT,127225006,NA +GARD:0008225,Orphanet,98823,Exact +GARD:0008225,MeSH,D015477,Exact +GARD:0008225,MedDRA,10009018,Exact +GARD:0008225,UMLS,C0023480,Exact +GARD:0008225,ICD-11,2A40,Exact +GARD:0008225,ICD-10,C93.1,Exact +GARD:0008231,Orphanet,157987,Exact +GARD:0008231,UMLS,C0019624,Exact +GARD:0008231,ICD-10,D76.3,NTBT +GARD:0008231,MeSH,D015616,Exact +GARD:0008232,Orphanet,252054,Exact +GARD:0008232,MedDRA,10018813,Exact +GARD:0008232,ICD-10,D33.4,BTNT +GARD:0008232,UMLS,C0206734,Exact +GARD:0008232,ICD-10,D33.7,BTNT +GARD:0008232,SNOMED-CT,1156474009,NA +GARD:0008233,SNOMED-CT,190794006,NA +GARD:0008233,Orphanet,355,Exact +GARD:0008233,ICD-10,E75.2,NTBT +GARD:0008233,OMIM,230900,BTNT +GARD:0008233,OMIM,608013,BTNT +GARD:0008233,MeSH,D005776,Exact +GARD:0008233,OMIM,231000,BTNT +GARD:0008233,OMIM,610539,BTNT +GARD:0008233,MedDRA,10018048,Exact +GARD:0008233,UMLS,C0017205,Exact +GARD:0008233,OMIM,230800,BTNT +GARD:0008233,OMIM,231005,BTNT +GARD:0008234,SNOMED-CT,57160007,NA +GARD:0008234,Orphanet,47612,Exact +GARD:0008234,MedDRA,10016386,Exact +GARD:0008234,ICD-10,M05.0,NTBT +GARD:0008234,MeSH,D005258,Exact +GARD:0008234,OMIM,134750,Exact +GARD:0008234,UMLS,C0015773,Exact +GARD:0008238,SNOMED-CT,1156471001,NA +GARD:0008238,Orphanet,251899,Exact +GARD:0008238,OMIM,260500,NTBT +GARD:0008238,ICD-10,C71.7,NTBT +GARD:0008238,MedDRA,10067478,Exact +GARD:0008238,UMLS,C0431109,Exact +GARD:0008240,OMIM,145300,Exact +GARD:0008240,UMLS,C1840386,NA +GARD:0008240,GeneticAlliance,2749,NA +GARD:0008241,Orphanet,158029,Exact +GARD:0008241,UMLS,C0036489,Exact +GARD:0008241,ICD-10,D76.3,NTBT +GARD:0008241,OMIM,269600,Exact +GARD:0008241,SNOMED-CT,37821003,NA +GARD:0008249,SNOMED-CT,109998009,NA +GARD:0008249,Orphanet,75564,Exact +GARD:0008249,UMLS,C1264195,Exact +GARD:0008249,ICD-10,D64.3,NTBT +GARD:0008254,Orphanet,319266,Exact +GARD:0008254,ICD-11,1D4A,Exact +GARD:0008254,MedDRA,10030310,Exact +GARD:0008254,ICD-10,A98.1,Exact +GARD:0008254,SNOMED-CT,48113006,NA +GARD:0008254,UMLS,C0019103,Exact +GARD:0008257,SNOMED-CT,23097003,NA +GARD:0008257,Orphanet,319254,Exact +GARD:0008257,MedDRA,10023505,Exact +GARD:0008257,UMLS,C0022810,Exact +GARD:0008257,ICD-10,A98.2,Exact +GARD:0008257,ICD-11,1D4B,Exact +GARD:0008259,Orphanet,54028,Exact +GARD:0008259,UMLS,C0032249,Exact +GARD:0008259,ICD-10,D50.1,NTBT +GARD:0008259,MedDRA,10040664,Exact +GARD:0008259,MeSH,D011004,Exact +GARD:0008259,SNOMED-CT,80126007,NA +GARD:0008270,Orphanet,2349,Exact +GARD:0008270,SNOMED-CT,716338001,NA +GARD:0008270,UMLS,C0270958,Exact +GARD:0008270,ICD-10,E03.1,NTBT +GARD:0008275,SNOMED-CT,239064000,NA +GARD:0008275,Orphanet,50943,Exact +GARD:0008275,MeSH,C536155,Exact +GARD:0008275,UMLS,C0406756,Exact +GARD:0008275,OMIM,148370,Exact +GARD:0008282,Orphanet,85450,Exact +GARD:0008282,ICD-10,E85.0,NTBT +GARD:0008282,OMIM,105200,Exact +GARD:0008283,OMIM,606129,Exact +GARD:0008283,UMLS,C1853666,NA +GARD:0008283,DiseaseOntology,111885,NA +GARD:0008283,GeneticAlliance,2248,NA +GARD:0008295,SNOMED-CT,709414007,NA +GARD:0008295,Orphanet,1460,Exact +GARD:0008295,OMIM,615159,BTNT +GARD:0008295,OMIM,124000,BTNT +GARD:0008295,OMIM,615157,BTNT +GARD:0008295,OMIM,616111,BTNT +GARD:0008295,OMIM,615453,BTNT +GARD:0008295,OMIM,618775,BTNT +GARD:0008295,OMIM,615160,BTNT +GARD:0008295,OMIM,615824,BTNT +GARD:0008295,OMIM,615158,BTNT +GARD:0008295,OMIM,615838,BTNT +GARD:0008295,ICD-10,G71.3,NTBT +GARD:0008309,SNOMED-CT,764857004,NA +GARD:0008309,Orphanet,988,Exact +GARD:0008309,OMIM,188740,NTBT +GARD:0008309,MeSH,C535564,Exact +GARD:0008309,UMLS,C1861099,Exact +GARD:0008309,ICD-10,Q87.2,NTBT +GARD:0008310,Orphanet,273,Exact +GARD:0008310,OMIM,160900,Exact +GARD:0008310,ICD-10,G71.1,NTBT +GARD:0008310,UMLS,C2931688,Exact +GARD:0008310,MeSH,C538008,Exact +GARD:0008310,SNOMED-CT,77956009,NA +GARD:0008312,Orphanet,52530,Exact +GARD:0008312,SNOMED-CT,128115005,NA +GARD:0008312,ICD-10,D69.8,NTBT +GARD:0008312,OMIM,177820,Exact +GARD:0008312,UMLS,C1280798,Exact +GARD:0008317,Orphanet,98289,Exact +GARD:0008317,ICD-10,C96.4,Exact +GARD:0008329,Orphanet,56304,Exact +GARD:0008329,OMIM,256050,Exact +GARD:0008329,MeSH,C535395,Exact +GARD:0008329,UMLS,C1850555,Exact +GARD:0008329,ICD-10,Q77.5,NTBT +GARD:0008329,UMLS,C0432203,Exact +GARD:0008329,UMLS,C1850554,Exact +GARD:0008329,SNOMED-CT,254055004,NA +GARD:0008331,Orphanet,52368,Exact +GARD:0008331,UMLS,C0796074,Exact +GARD:0008331,SNOMED-CT,702423009,NA +GARD:0008331,MeSH,C535808,Exact +GARD:0008331,OMIM,304700,Exact +GARD:0008331,ICD-10,E88.8,NTBT +GARD:0008333,SNOMED-CT,720518006,NA +GARD:0008333,Orphanet,69739,Exact +GARD:0008333,MeSH,C535397,Exact +GARD:0008333,OMIM,601536,Exact +GARD:0008333,UMLS,C1832215,Exact +GARD:0008333,ICD-10,G96.8,NTBT +GARD:0008334,Orphanet,98902,Exact +GARD:0008334,OMIM,605355,Exact +GARD:0008334,ICD-10,G71.2,NTBT +GARD:0008337,Orphanet,63999,Exact +GARD:0008337,UMLS,C0221386,Exact +GARD:0008337,ICD-10,J98.5,NTBT +GARD:0008337,MedDRA,10027074,Exact +GARD:0008337,ICD-11,CB22.0,Exact +GARD:0008337,MeSH,C536136,Exact +GARD:0008337,UMLS,C0264573,Exact +GARD:0008337,SNOMED-CT,7377003,NA +GARD:0008338,SNOMED-CT,698765007,NA +GARD:0008338,Orphanet,42775,Exact +GARD:0008338,MedDRA,10068032,Exact +GARD:0008338,ICD-10,Q28.8,NTBT +GARD:0008338,OMIM,140850,Exact +GARD:0008338,UMLS,C1847874,Exact +GARD:0008338,OMIM,606519,Exact +GARD:0008338,UMLS,C2242617,Exact +GARD:0008341,Orphanet,559,Exact +GARD:0008341,UMLS,C0024814,Exact +GARD:0008341,ICD-10,G11.1,NTBT +GARD:0008341,OMIM,248800,Exact +GARD:0008341,SNOMED-CT,80734006,NA +GARD:0008343,Orphanet,168544,Exact +GARD:0008343,OMIM,313420,Exact +GARD:0008343,ICD-10,Q77.8,NTBT +GARD:0008343,UMLS,C0796172,Exact +GARD:0008343,SNOMED-CT,773304004,NA +GARD:0008344,SNOMED-CT,783161005,NA +GARD:0008344,Orphanet,97345,Exact +GARD:0008344,UMLS,C1867773,Exact +GARD:0008344,ICD-10,I68.0*,NTBT +GARD:0008344,ICD-10,E85.4+,NTBT +GARD:0008344,OMIM,176500,Exact +GARD:0008344,MeSH,C538208,Exact +GARD:0008345,Orphanet,220436,Exact +GARD:0008345,OMIM,601709,Exact +GARD:0008345,UMLS,C1866423,Exact +GARD:0008345,ICD-10,D69.1,NTBT +GARD:0008345,MeSH,C536260,Exact +GARD:0008345,SNOMED-CT,128101008,NA +GARD:0008349,Orphanet,100033,Exact +GARD:0008349,OMIM,301200,BTNT +GARD:0008349,UMLS,C0399372,Exact +GARD:0008349,OMIM,612529,BTNT +GARD:0008349,SNOMED-CT,109475005,NA +GARD:0008349,OMIM,615887,BTNT +GARD:0008349,OMIM,613211,BTNT +GARD:0008349,ICD-10,K00.5,NTBT +GARD:0008349,OMIM,617217,BTNT +GARD:0008349,OMIM,614832,BTNT +GARD:0008349,OMIM,204700,BTNT +GARD:0008349,MeSH,C536606,Exact +GARD:0008360,Orphanet,85332,Exact +GARD:0008360,OMIM,300578,Exact +GARD:0008360,UMLS,C0795873,Exact +GARD:0008360,ICD-10,H35.5,NTBT +GARD:0008360,SNOMED-CT,719808002,NA +GARD:0008367,Orphanet,93324,Exact +GARD:0008367,ICD-10,Q87.1,NTBT +GARD:0008367,OMIM,244460,Exact +GARD:0008367,UMLS,C1855648,Exact +GARD:0008370,SNOMED-CT,718219002,NA +GARD:0008370,Orphanet,70472,Exact +GARD:0008370,ICD-10,G31.8,NTBT +GARD:0008370,OMIM,619065,BTNT +GARD:0008370,UMLS,C1857355,Exact +GARD:0008370,OMIM,220111,BTNT +GARD:0008378,SNOMED-CT,28770003,NA +GARD:0008378,Orphanet,731,Exact +GARD:0008378,MeSH,D017044,Exact +GARD:0008378,ICD-10,Q61.1,Exact +GARD:0008378,UMLS,C0085548,Exact +GARD:0008378,OMIM,263200,BTNT +GARD:0008378,MedDRA,10036047,Exact +GARD:0008378,OMIM,617610,BTNT +GARD:0008380,SNOMED-CT,68926002,NA +GARD:0008380,Orphanet,51608,Exact +GARD:0008380,MeSH,C537440,Exact +GARD:0008380,ICD-10,Q28.8,NTBT +GARD:0008380,UMLS,C1859727,Exact +GARD:0008380,OMIM,208000,Exact +GARD:0008380,UMLS,C0264955,Exact +GARD:0008380,OMIM,614473,Exact +GARD:0008387,SNOMED-CT,410059004,NA +GARD:0008387,Orphanet,20,Exact +GARD:0008387,OMIM,246450,Exact +GARD:0008387,UMLS,C1533587,Exact +GARD:0008387,UMLS,C0268601,Exact +GARD:0008387,ICD-10,E71.1,NTBT +GARD:0008391,Orphanet,664,Exact +GARD:0008391,MeSH,D020163,Exact +GARD:0008391,SNOMED-CT,80908008,NA +GARD:0008391,UMLS,C0268542,Exact +GARD:0008391,MedDRA,10052450,Exact +GARD:0008391,OMIM,311250,Exact +GARD:0008391,ICD-10,E72.4,NTBT +GARD:0008397,Orphanet,168598,Exact +GARD:0008397,OMIM,250850,Exact +GARD:0008397,UMLS,C0268621,Exact +GARD:0008397,ICD-10,E72.1,NTBT +GARD:0008397,SNOMED-CT,124283007,NA +GARD:0008406,OMIM,305700,Exact +GARD:0008406,DiseaseOntology,70189,NA +GARD:0008406,SNOMED-CT,73465006,NA +GARD:0008406,UMLS,C1384583,NA +GARD:0008407,Orphanet,1305,Exact +GARD:0008407,ICD-10,Q87.8,NTBT +GARD:0008407,OMIM,164280,BTNT +GARD:0008407,OMIM,614326,BTNT +GARD:0008407,UMLS,C0796068,Exact +GARD:0008407,SNOMED-CT,702431004,NA +GARD:0008410,Orphanet,246,Exact +GARD:0008410,UMLS,C0265257,Exact +GARD:0008410,OMIM,263750,Exact +GARD:0008410,ICD-10,Q75.4,NTBT +GARD:0008410,SNOMED-CT,66038001,NA +GARD:0008414,SNOMED-CT,79261008,NA +GARD:0008414,Orphanet,888,Exact +GARD:0008414,OMIM,119300,Exact +GARD:0008414,OMIM,604547,BTNT +GARD:0008414,MeSH,C536528,Exact +GARD:0008414,ICD-10,Q38.0,NTBT +GARD:0008414,UMLS,C0175697,Exact +GARD:0008414,OMIM,606713,BTNT +GARD:0008416,Orphanet,398166,Exact +GARD:0008416,ICD-10,Q82.8,NTBT +GARD:0008416,OMIM,227260,BTNT +GARD:0008416,UMLS,C2936827,Exact +GARD:0008416,OMIM,614973,BTNT +GARD:0008416,OMIM,614974,BTNT +GARD:0008416,OMIM,136500,BTNT +GARD:0008416,SNOMED-CT,789156003,NA +GARD:0008417,Orphanet,217071,NTBT +GARD:0008419,Orphanet,137902,Exact +GARD:0008419,UMLS,C0338502,Exact +GARD:0008419,ICD-10,Q07.8,NTBT +GARD:0008419,OMIM,165550,Exact +GARD:0008421,Orphanet,884,Exact +GARD:0008421,UMLS,C0265449,Exact +GARD:0008421,ICD-10,Q99.8,NTBT +GARD:0008421,OMIM,601803,Exact +GARD:0008421,SNOMED-CT,9527009,NA +GARD:0008422,SNOMED-CT,449817000,NA +GARD:0008422,Orphanet,709,Exact +GARD:0008422,UMLS,C0796012,Exact +GARD:0008422,ICD-10,Q13.8,NTBT +GARD:0008422,OMIM,261540,Exact +GARD:0008423,Orphanet,1399,Exact +GARD:0008423,OMIM,245100,Exact +GARD:0008423,UMLS,C0796136,Exact +GARD:0008423,MeSH,C535674,Exact +GARD:0008423,ICD-10,G60.2,NTBT +GARD:0008423,SNOMED-CT,715415005,NA +GARD:0008424,Orphanet,42062,Exact +GARD:0008424,ICD-10,E72.0,NTBT +GARD:0008424,UMLS,C0268654,Exact +GARD:0008424,OMIM,242600,Exact +GARD:0008424,MeSH,C536285,Exact +GARD:0008424,SNOMED-CT,84121007,NA +GARD:0008426,Orphanet,95720,Exact +GARD:0008426,MedDRA,10065938,Exact +GARD:0008426,OMIM,218700,NTBT +GARD:0008426,UMLS,C0151516,Exact +GARD:0008426,OMIM,225250,BTNT +GARD:0008426,ICD-10,E03.1,NTBT +GARD:0008426,SNOMED-CT,367524008,NA +GARD:0008427,SNOMED-CT,725136003,NA +GARD:0008427,Orphanet,34592,Exact +GARD:0008427,ICD-11,4A01.11,Exact +GARD:0008427,ICD-10,D81.6,Exact +GARD:0008427,UMLS,C1858266,Exact +GARD:0008427,OMIM,241600,BTNT +GARD:0008427,OMIM,604571,Exact +GARD:0008428,SNOMED-CT,715991005,NA +GARD:0008428,Orphanet,1512,Exact +GARD:0008428,ICD-10,Q87.5,NTBT +GARD:0008428,OMIM,218090,Exact +GARD:0008428,MeSH,C536452,Exact +GARD:0008428,UMLS,C1857532,Exact +GARD:0008432,Orphanet,168572,Exact +GARD:0008432,MeSH,C538343,Exact +GARD:0008432,UMLS,C1850625,Exact +GARD:0008432,ICD-10,G71.2,NTBT +GARD:0008432,OMIM,255995,Exact +GARD:0008432,SNOMED-CT,723439002,NA +GARD:0008433,SNOMED-CT,764957003,NA +GARD:0008433,Orphanet,99741,Exact +GARD:0008433,OMIM,145600,NTBT +GARD:0008433,ICD-10,G71.2,NTBT +GARD:0008433,UMLS,C1840365,Exact +GARD:0008433,MeSH,C536883,Exact +GARD:0008435,Orphanet,2856,Exact +GARD:0008435,MeSH,C536665,Exact +GARD:0008435,UMLS,C1849930,Exact +GARD:0008435,ICD-10,Q55.8,NTBT +GARD:0008435,OMIM,261550,Exact +GARD:0008435,SNOMED-CT,702358005,NA +GARD:0008436,Orphanet,282,Exact +GARD:0008436,OMIM,607485,BTNT +GARD:0008436,MedDRA,10068968,Exact +GARD:0008436,OMIM,172700,BTNT +GARD:0008436,OMIM,600795,BTNT +GARD:0008436,ICD-10,G31.0,NTBT +GARD:0008436,UMLS,C0338451,Exact +GARD:0008436,OMIM,600274,Exact +GARD:0008436,MeSH,D057180,Exact +GARD:0008436,SNOMED-CT,230270009,NA +GARD:0008438,Orphanet,3387,Exact +GARD:0008438,OMIM,600457,Exact +GARD:0008438,SNOMED-CT,717963001,NA +GARD:0008438,UMLS,C1838123,Exact +GARD:0008438,ICD-10,L68.2,NTBT +GARD:0008449,Orphanet,85202,Exact +GARD:0008449,ICD-10,Q87.8,NTBT +GARD:0008449,OMIM,245150,Exact +GARD:0008449,MeSH,C536167,Exact +GARD:0008449,UMLS,C1855607,Exact +GARD:0008449,SNOMED-CT,724208006,NA +GARD:0008457,SNOMED-CT,403833009,NA +GARD:0008457,Orphanet,32960,Exact +GARD:0008457,ICD-11,4A60.2,Exact +GARD:0008457,UMLS,C1275126,Exact +GARD:0008457,OMIM,142680,Exact +GARD:0008457,ICD-10,E85.0,NTBT +GARD:0008466,Orphanet,3453,Exact +GARD:0008466,UMLS,C3494489,Exact +GARD:0008466,MeSH,C538275,Exact +GARD:0008466,ICD-10,E31.0,NTBT +GARD:0008466,OMIM,240300,Exact +GARD:0008466,SNOMED-CT,11244009,NA +GARD:0008466,UMLS,C0085859,Exact +GARD:0008468,Orphanet,252206,Exact +GARD:0008468,OMIM,155755,Exact +GARD:0008468,SNOMED-CT,717968005,NA +GARD:0008468,UMLS,C1835042,Exact +GARD:0008468,ICD-10,D43,NTBT +GARD:0008471,Orphanet,54,Exact +GARD:0008471,ICD-10,E70.3,NTBT +GARD:0008471,MeSH,C537863,Exact +GARD:0008471,UMLS,C0342684,Exact +GARD:0008471,OMIM,300500,Exact +GARD:0008471,SNOMED-CT,78642008,NA +GARD:0008472,SNOMED-CT,15123008,NA +GARD:0008472,Orphanet,575,Exact +GARD:0008472,MedDRA,10064569,Exact +GARD:0008472,UMLS,C0268390,Exact +GARD:0008472,ICD-10,E85.0,NTBT +GARD:0008472,OMIM,191900,Exact +GARD:0008476,SNOMED-CT,719430008,NA +GARD:0008476,Orphanet,99718,Exact +GARD:0008476,ICD-10,H47.2,NTBT +GARD:0008476,OMIM,500001,BTNT +GARD:0008476,OMIM,165200,BTNT +GARD:0008479,Orphanet,538756,Exact +GARD:0008479,OMIM,190340,Exact +GARD:0008479,ICD-10,D23.9,NTBT +GARD:0008480,SNOMED-CT,254222002,NA +GARD:0008480,Orphanet,90349,Exact +GARD:0008480,ICD-10,Q82.8,NTBT +GARD:0008480,UMLS,C0268351,Exact +GARD:0008480,OMIM,614437,BTNT +GARD:0008480,UMLS,C0432336,Exact +GARD:0008480,OMIM,219100,BTNT +GARD:0008485,Orphanet,85203,Exact +GARD:0008485,ICD-10,Q74.0,NTBT +GARD:0008485,UMLS,C1853812,Exact +GARD:0008485,OMIM,605967,Exact +GARD:0008485,SNOMED-CT,720412009,NA +GARD:0008486,SNOMED-CT,720860004,NA +GARD:0008486,Orphanet,2953,Exact +GARD:0008486,OMIM,601776,Exact +GARD:0008486,ICD-10,Q79.6,NTBT +GARD:0008486,OMIM,615539,BTNT +GARD:0008487,SNOMED-CT,399903008,NA +GARD:0008487,Orphanet,199267,Exact +GARD:0008487,ICD-10,M72.8,NTBT +GARD:0008487,ICD-11,EE61,NTBT +GARD:0008487,UMLS,C1318562,Exact +GARD:0008488,SNOMED-CT,786038001,NA +GARD:0008488,Orphanet,319487,Exact +GARD:0008488,OMIM,188550,NTBT +GARD:0008488,OMIM,606240,BTNT +GARD:0008488,OMIM,188470,BTNT +GARD:0008488,ICD-10,C73,NTBT +GARD:0008488,OMIM,616535,BTNT +GARD:0008488,OMIM,603744,BTNT +GARD:0008488,OMIM,616534,BTNT +GARD:0008488,OMIM,603386,BTNT +GARD:0008491,OMIM,606190,Exact +GARD:0008491,GeneticAlliance,6140,NA +GARD:0008491,UMLS,C1853554,NA +GARD:0008495,Orphanet,139507,Exact +GARD:0008495,ICD-10,E83.1,NTBT +GARD:0008495,UMLS,C0268063,Exact +GARD:0008495,OMIM,601195,Exact +GARD:0008495,SNOMED-CT,66576001,NA +GARD:0008497,OMIM,605472,Exact +GARD:0008497,DiseaseOntology,110839,NA +GARD:0008497,GeneticAlliance,7325,NA +GARD:0008497,UMLS,C2676439,NA +GARD:0008497,UMLS,C2931213,NA +GARD:0008501,Orphanet,171723,Exact +GARD:0008501,SNOMED-CT,389203001,NA +GARD:0008501,OMIM,193900,Exact +GARD:0008501,UMLS,C1721005,Exact +GARD:0008501,OMIM,615785,BTNT +GARD:0008501,ICD-10,Q38.6,NTBT +GARD:0008505,Orphanet,75497,Exact +GARD:0008505,UMLS,C0268341,Exact +GARD:0008505,ICD-10,Q79.6,NTBT +GARD:0008505,MeSH,C536197,Exact +GARD:0008505,OMIM,305200,Exact +GARD:0008505,SNOMED-CT,67202007,NA +GARD:0008507,Orphanet,230839,Exact +GARD:0008507,OMIM,606408,Exact +GARD:0008507,UMLS,C1848029,Exact +GARD:0008507,ICD-10,Q79.6,NTBT +GARD:0008507,SNOMED-CT,778022009,NA +GARD:0008509,Orphanet,1133,Exact +GARD:0008509,MeSH,C537427,Exact +GARD:0008509,ICD-10,Q87.8,NTBT +GARD:0008509,OMIM,207780,Exact +GARD:0008509,UMLS,C0342280,Exact +GARD:0008509,SNOMED-CT,237610008,NA +GARD:0008517,Orphanet,384,Exact +GARD:0008517,ICD-10,Q82.8,NTBT +GARD:0008517,SNOMED-CT,239076000,NA +GARD:0008517,UMLS,C0406767,Exact +GARD:0008517,OMIM,181600,Exact +GARD:0008520,Orphanet,1568,Exact +GARD:0008520,ICD-10,Q23.8,NTBT +GARD:0008520,UMLS,C0796254,Exact +GARD:0008520,OMIM,304340,NTBT +GARD:0008520,SNOMED-CT,719139003,NA +GARD:0008521,SNOMED-CT,719836007,NA +GARD:0008521,Orphanet,1145,Exact +GARD:0008521,UMLS,C1844934,Exact +GARD:0008521,MeSH,C535380,Exact +GARD:0008521,ICD-10,G12.1,NTBT +GARD:0008521,OMIM,301830,Exact +GARD:0008526,SNOMED-CT,430476004,NA +GARD:0008526,Orphanet,171700,Exact +GARD:0008526,ICD-10,J44.8,NTBT +GARD:0008526,UMLS,C0878555,Exact +GARD:0008526,MedDRA,10062952,Exact +GARD:0008526,ICD-11,CA26.1,Exact +GARD:0008526,OMIM,604809,Exact +GARD:0008526,MeSH,C536174,Exact +GARD:0008527,OMIM,234810,Exact +GARD:0008527,Orphanet,199241,NTBT +GARD:0008527,UMLS,C0340848,NA +GARD:0008527,SNOMED-CT,234161007,NA +GARD:0008528,Orphanet,244242,Exact +GARD:0008528,ICD-10,O14.2,Exact +GARD:0008528,MeSH,D017359,Exact +GARD:0008528,MedDRA,10049058,Exact +GARD:0008528,ICD-11,JA24.2,Exact +GARD:0008528,UMLS,C0162739,Exact +GARD:0008528,SNOMED-CT,95605009,NA +GARD:0008529,Orphanet,295044,Exact +GARD:0008529,UMLS,C0574044,Exact +GARD:0008529,ICD-11,LB97.0,Exact +GARD:0008529,ICD-10,Q74.0,NTBT +GARD:0008529,SNOMED-CT,297195000,NA +GARD:0008530,Orphanet,399805,Exact +GARD:0008530,OMIM,619202,BTNT +GARD:0008530,OMIM,618110,BTNT +GARD:0008530,OMIM,258150,BTNT +GARD:0008530,OMIM,615842,BTNT +GARD:0008530,ICD-10,N46,NTBT +GARD:0008530,OMIM,617706,BTNT +GARD:0008530,OMIM,617960,BTNT +GARD:0008530,OMIM,615841,BTNT +GARD:0008530,OMIM,618086,BTNT +GARD:0008530,OMIM,305700,BTNT +GARD:0008530,OMIM,615081,BTNT +GARD:0008530,OMIM,613957,BTNT +GARD:0008530,OMIM,616950,BTNT +GARD:0008530,OMIM,615413,BTNT +GARD:0008530,OMIM,309120,BTNT +GARD:0008530,OMIM,618115,BTNT +GARD:0008530,OMIM,619108,BTNT +GARD:0008530,OMIM,108420,BTNT +GARD:0008530,OMIM,617707,BTNT +GARD:0008530,OMIM,270960,BTNT +GARD:0008531,OMIM,248340,Exact +GARD:0008531,DiseaseOntology,60577,NA +GARD:0008531,GeneticAlliance,4441,NA +GARD:0008531,UMLS,C0796032,NA +GARD:0008532,SNOMED-CT,715866009,NA +GARD:0008532,Orphanet,220460,Exact +GARD:0008532,MeSH,C538265,Exact +GARD:0008532,OMIM,608456,BTNT +GARD:0008532,OMIM,175100,BTNT +GARD:0008532,ICD-10,D12.6,NTBT +GARD:0008532,OMIM,615083,BTNT +GARD:0008532,OMIM,612591,BTNT +GARD:0008532,OMIM,616415,BTNT +GARD:0008532,UMLS,C2674616,Exact +GARD:0008533,Orphanet,443909,Exact +GARD:0008533,UMLS,C1333990,Exact +GARD:0008533,UMLS,C1112155,Exact +GARD:0008533,UMLS,C0009405,Exact +GARD:0008535,SNOMED-CT,399040002,NA +GARD:0008535,Orphanet,661,Exact +GARD:0008535,OMIM,209880,Exact +GARD:0008535,MedDRA,10007982,Exact +GARD:0008535,ICD-10,G47.3,NTBT +GARD:0008535,MedDRA,10066131,Exact +GARD:0008535,UMLS,C1275808,Exact +GARD:0008538,Orphanet,98085,Exact +GARD:0008538,UMLS,C2751824,Exact +GARD:0008538,MeSH,D058490,Exact +GARD:0008539,SNOMED-CT,60952007,NA +GARD:0008539,Orphanet,210128,Exact +GARD:0008539,OMIM,276880,Exact +GARD:0008539,UMLS,C0268514,Exact +GARD:0008539,ICD-11,5C50.21,Exact +GARD:0008539,ICD-10,E70.8,NTBT +GARD:0008541,Orphanet,95432,Exact +GARD:0008541,MeSH,D018888,Exact +GARD:0008541,UMLS,C0282513,Exact +GARD:0008541,ICD-10,G31.0,NTBT +GARD:0008542,Orphanet,93442,Exact +GARD:0008542,ICD-10,Q77.3,Exact +GARD:0008542,MeSH,D002806,Exact +GARD:0008542,UMLS,C0008445,Exact +GARD:0008542,UMLS,C1859132,Exact +GARD:0008542,ICD-11,LD24.04,Exact +GARD:0008547,SNOMED-CT,707756004,NA +GARD:0008547,Orphanet,358,Exact +GARD:0008547,UMLS,C0268450,Exact +GARD:0008547,OMIM,263800,Exact +GARD:0008547,MeSH,D053579,Exact +GARD:0008547,ICD-10,N15.8,NTBT +GARD:0008547,MedDRA,10062906,Exact +GARD:0008548,Orphanet,98856,Exact +GARD:0008548,MeSH,C537990,Exact +GARD:0008548,UMLS,C1854154,Exact +GARD:0008548,ICD-10,G60.0,NTBT +GARD:0008548,OMIM,605588,Exact +GARD:0008548,SNOMED-CT,725048002,NA +GARD:0008549,SNOMED-CT,766987006,NA +GARD:0008549,Orphanet,570,Exact +GARD:0008549,ICD-10,Q87.0,NTBT +GARD:0008549,MedDRA,10030069,Exact +GARD:0008549,UMLS,C0221060,Exact +GARD:0008549,MeSH,D020331,Exact +GARD:0008549,UMLS,C0853240,Exact +GARD:0008549,OMIM,157900,Exact +GARD:0008550,SNOMED-CT,239088003,NA +GARD:0008550,Orphanet,86920,Exact +GARD:0008550,MeSH,C535374,Exact +GARD:0008550,UMLS,C0406778,Exact +GARD:0008550,OMIM,125595,Exact +GARD:0008550,ICD-10,Q82.4,NTBT +GARD:0008553,SNOMED-CT,715534008,NA +GARD:0008553,Orphanet,31709,Exact +GARD:0008553,ICD-10,G40.4,NTBT +GARD:0008553,UMLS,C1865926,Exact +GARD:0008553,OMIM,602066,Exact +GARD:0008555,Orphanet,93571,Exact +GARD:0008555,ICD-10,N03.6,Exact +GARD:0008555,MeSH,D015432,Exact +GARD:0008555,UMLS,C0268743,Exact +GARD:0008555,OMIM,609814,NTBT +GARD:0008555,ICD-11,GB40,NTBT +GARD:0008555,SNOMED-CT,722760002,NA +GARD:0008557,OMIM,300062,Exact +GARD:0008557,UMLS,C0796220,NA +GARD:0008557,DiseaseOntology,112027,NA +GARD:0008557,GeneticAlliance,4664,NA +GARD:0008559,OMIM,194071,Exact +GARD:0008559,GeneticAlliance,2778,NA +GARD:0008559,UMLS,C3887743,NA +GARD:0008562,Orphanet,808,Exact +GARD:0008562,UMLS,C0265202,Exact +GARD:0008562,OMIM,613823,BTNT +GARD:0008562,OMIM,615807,BTNT +GARD:0008562,OMIM,616051,ND (not yet decided/unable to decide) +GARD:0008562,OMIM,600546,BTNT +GARD:0008562,OMIM,616777,BTNT +GARD:0008562,OMIM,606744,BTNT +GARD:0008562,ICD-10,Q87.1,NTBT +GARD:0008562,OMIM,616171,ND (not yet decided/unable to decide) +GARD:0008562,OMIM,210600,BTNT +GARD:0008562,OMIM,613676,BTNT +GARD:0008562,MeSH,C537533,Exact +GARD:0008562,SNOMED-CT,57917004,NA +GARD:0008563,Orphanet,238606,Exact +GARD:0008563,UMLS,C0878578,Exact +GARD:0008563,MeSH,C536418,Exact +GARD:0008563,ICD-10,G25.2,NTBT +GARD:0008563,SNOMED-CT,715902009,NA +GARD:0008570,Orphanet,83601,Exact +GARD:0008570,ICD-10,G04.8,NTBT +GARD:0008570,UMLS,C0393639,Exact +GARD:0008570,SNOMED-CT,771271000,NA +GARD:0008573,SNOMED-CT,718177001,NA +GARD:0008573,Orphanet,219,Exact +GARD:0008573,UMLS,C1832525,Exact +GARD:0008573,OMIM,601287,Exact +GARD:0008573,ICD-10,G71.0,NTBT +GARD:0008574,Orphanet,268,Exact +GARD:0008574,ICD-10,G71.0,NTBT +GARD:0008574,OMIM,253601,Exact +GARD:0008574,SNOMED-CT,718179003,NA +GARD:0008574,UMLS,C1850889,Exact +GARD:0008577,SNOMED-CT,75614007,NA +GARD:0008577,Orphanet,280898,Exact +GARD:0008577,ICD-10,H44.1,NTBT +GARD:0008577,UMLS,C0030343,Exact +GARD:0008577,MedDRA,10033687,Exact +GARD:0008578,OMIM,602404,Exact +GARD:0008578,DiseaseOntology,111250,NA +GARD:0008578,GeneticAlliance,5604,NA +GARD:0008578,UMLS,C1865581,NA +GARD:0008580,Orphanet,1914,Exact +GARD:0008580,ICD-11,LD2F.02,Exact +GARD:0008580,MedDRA,10051445,Exact +GARD:0008580,ICD-10,Q86.2,NTBT +GARD:0008580,SNOMED-CT,38323006,NA +GARD:0008580,UMLS,C0265374,Exact +GARD:0008583,Orphanet,306527,Exact +GARD:0008583,OMIM,601471,Exact +GARD:0008583,ICD-10,Q87.0,NTBT +GARD:0008583,UMLS,C1832284,Exact +GARD:0008583,SNOMED-CT,733091002,NA +GARD:0008585,Orphanet,1517,Exact +GARD:0008585,ICD-10,Q78.8,NTBT +GARD:0008585,OMIM,239850,Exact +GARD:0008585,UMLS,C0795905,Exact +GARD:0008585,MeSH,C535572,Exact +GARD:0008585,SNOMED-CT,239087008,NA +GARD:0008586,Orphanet,2872,Exact +GARD:0008586,ICD-10,Q87.8,NTBT +GARD:0008586,OMIM,218450,Exact +GARD:0008586,SNOMED-CT,720606005,NA +GARD:0008588,OMIM,144010,Exact +GARD:0008588,SNOMED-CT,238081000,NA +GARD:0008588,UMLS,C1704417,NA +GARD:0008588,UMLS,C3888316,NA +GARD:0008588,SNOMED-CT,238040008,NA +GARD:0008588,ICD-10-CM,E78.2,NA +GARD:0008588,GeneticAlliance,8583,NA +GARD:0008591,Orphanet,450,NTBT +GARD:0008592,SNOMED-CT,711483003,NA +GARD:0008592,Orphanet,98920,Exact +GARD:0008592,UMLS,C1858517,Exact +GARD:0008592,ICD-10,G12.2,NTBT +GARD:0008592,OMIM,604320,Exact +GARD:0008593,Orphanet,77296,Exact +GARD:0008593,UMLS,C0020494,Exact +GARD:0008593,ICD-10,M85.2,NTBT +GARD:0008593,OMIM,144800,Exact +GARD:0008593,SNOMED-CT,782167001,NA +GARD:0008595,Orphanet,96,Exact +GARD:0008595,UMLS,C1848533,Exact +GARD:0008595,SNOMED-CT,702442008,NA +GARD:0008595,OMIM,277460,Exact +GARD:0008595,MeSH,C535393,Exact +GARD:0008595,ICD-10,G11.1,NTBT +GARD:0008595,MedDRA,10047631,Exact +GARD:0008598,Orphanet,44890,Exact +GARD:0008598,UMLS,C0238198,Exact +GARD:0008598,MeSH,D046152,Exact +GARD:0008598,OMIM,175510,BTNT +GARD:0008598,MedDRA,10051066,Exact +GARD:0008598,ICD-10,C26.9,NTBT +GARD:0008598,OMIM,606764,Exact +GARD:0008598,UMLS,C3179349,Exact +GARD:0008598,SNOMED-CT,420120006,NA +GARD:0008600,Orphanet,140969,Exact +GARD:0008600,ICD-10,Q87.5,NTBT +GARD:0008600,OMIM,615630,NTBT +GARD:0008600,UMLS,C1849437,Exact +GARD:0008600,OMIM,266920,BTNT +GARD:0008600,MeSH,C535463,Exact +GARD:0008600,SNOMED-CT,254092004,NA +GARD:0008605,Orphanet,91385,Exact +GARD:0008605,MeSH,C538173,Exact +GARD:0008605,UMLS,C2931758,Exact +GARD:0008605,ICD-11,4A00.15,Exact +GARD:0008605,OMIM,300909,BTNT +GARD:0008605,ICD-10,T78.3,Exact +GARD:0008606,Orphanet,99742,Exact +GARD:0008606,ICD-10,Q02,NTBT +GARD:0008606,MeSH,C538247,Exact +GARD:0008606,UMLS,C1846648,Exact +GARD:0008606,OMIM,607196,Exact +GARD:0008606,SNOMED-CT,702437000,NA +GARD:0008609,SNOMED-CT,700250006,NA +GARD:0008609,Orphanet,2032,Exact +GARD:0008609,MedDRA,10021240,Exact +GARD:0008609,ICD-10,J84.1,NTBT +GARD:0008609,OMIM,616373,BTNT +GARD:0008609,ICD-11,CB03.4,Exact +GARD:0008609,UMLS,C0085786,Exact +GARD:0008609,MeSH,D054990,Exact +GARD:0008609,OMIM,178500,Exact +GARD:0008609,OMIM,616371,BTNT +GARD:0008609,UMLS,C1800706,Exact +GARD:0008610,Orphanet,199282,Exact +GARD:0008610,ICD-10,G90.8,NTBT +GARD:0008610,UMLS,C2029348,Exact +GARD:0008610,MeSH,C535634,Exact +GARD:0008610,SNOMED-CT,14070001000004100,NA +GARD:0008614,SNOMED-CT,127040003,NA +GARD:0008614,Orphanet,232,Exact +GARD:0008614,OMIM,603903,Exact +GARD:0008614,ICD-10,D57.2,BTNT +GARD:0008614,UMLS,C0002895,Exact +GARD:0008614,ICD-10,D57.1,BTNT +GARD:0008614,ICD-10,D57.0,BTNT +GARD:0008614,MedDRA,10040641,Exact +GARD:0008614,MeSH,D000755,Exact +GARD:0008616,SNOMED-CT,397016004,NA +GARD:0008616,Orphanet,2467,Exact +GARD:0008616,MeSH,D034721,Exact +GARD:0008616,ICD-10,C96.2,NTBT +GARD:0008616,MedDRA,10042949,Exact +GARD:0008616,UMLS,C0221013,Exact +GARD:0008618,Orphanet,824,Exact +GARD:0008618,UMLS,C0026987,Exact +GARD:0008618,OMIM,254450,Exact +GARD:0008618,ICD-10,D47.4,NTBT +GARD:0008618,UMLS,C0001815,Exact +GARD:0008618,SNOMED-CT,307651005,NA +GARD:0008621,Orphanet,39044,Exact +GARD:0008621,OMIM,606661,BTNT +GARD:0008621,MedDRA,10061252,Exact +GARD:0008621,UMLS,C0346388,Exact +GARD:0008621,OMIM,606660,BTNT +GARD:0008621,UMLS,C0220633,Exact +GARD:0008621,MeSH,C536494,Exact +GARD:0008621,ICD-10,C69.3,NTBT +GARD:0008621,UMLS,C0346373,Exact +GARD:0008621,OMIM,155720,Exact +GARD:0008622,SNOMED-CT,9893005,NA +GARD:0008622,Orphanet,169105,Exact +GARD:0008622,UMLS,C0221027,Exact +GARD:0008622,ICD-11,4B40.2,Exact +GARD:0008622,ICD-10,D81.8,NTBT +GARD:0008623,Orphanet,2521,Exact +GARD:0008623,UMLS,C2930954,Exact +GARD:0008623,ICD-10,Q87.8,NTBT +GARD:0008623,SNOMED-CT,719394002,NA +GARD:0008625,Orphanet,33355,Exact +GARD:0008625,ICD-10,D81.0,Exact +GARD:0008625,MeSH,C538361,Exact +GARD:0008625,UMLS,C0272167,Exact +GARD:0008625,OMIM,267500,Exact +GARD:0008625,ICD-11,4A01.10,NTBT +GARD:0008625,UMLS,C1282908,Exact +GARD:0008625,SNOMED-CT,111584000,NA +GARD:0008631,Orphanet,1598,Exact +GARD:0008631,UMLS,C0432442,Exact +GARD:0008631,ICD-10,Q93.5,NTBT +GARD:0008631,OMIM,146390,Exact +GARD:0008631,SNOMED-CT,56653005,NA +GARD:0008638,Orphanet,86851,Exact +GARD:0008638,UMLS,C1301357,Exact +GARD:0008638,UMLS,C0023464,Exact +GARD:0008638,ICD-10,C95.0,NTBT +GARD:0008638,MedDRA,10067399,Exact +GARD:0008638,MeSH,D015456,Exact +GARD:0008638,OMIM,601626,NTBT +GARD:0008638,SNOMED-CT,278453007,NA +GARD:0008639,SNOMED-CT,83942000,NA +GARD:0008639,Orphanet,83597,Exact +GARD:0008639,UMLS,C0014059,Exact +GARD:0008639,ICD-10,G04.0,NTBT +GARD:0008639,ICD-11,8A42,Exact +GARD:0008640,Orphanet,284454,Exact +GARD:0008640,UMLS,C0730298,Exact +GARD:0008640,SNOMED-CT,312929003,NA +GARD:0008644,Orphanet,210122,Exact +GARD:0008644,OMIM,265380,Exact +GARD:0008644,UMLS,C2677362,Exact +GARD:0008644,SNOMED-CT,708028001,NA +GARD:0008653,Orphanet,90000,Exact +GARD:0008653,ICD-10,L95.1,Exact +GARD:0008653,MeSH,C535509,Exact +GARD:0008653,ICD-11,EF40.2Y,NTBT +GARD:0008653,UMLS,C0263398,Exact +GARD:0008653,MedDRA,10056968,Exact +GARD:0008653,SNOMED-CT,58872001,NA +GARD:0008659,SNOMED-CT,76744005,NA +GARD:0008659,Orphanet,93323,Exact +GARD:0008659,ICD-10,Q72.6,Exact +GARD:0008659,ICD-11,LB9A.2,Exact +GARD:0008660,Orphanet,221117,Exact +GARD:0008660,ICD-10,F81.2,NTBT +GARD:0008660,ICD-11,MB4C,Exact +GARD:0008660,MeSH,D005862,Exact +GARD:0008660,UMLS,C0017494,Exact +GARD:0008660,MedDRA,10048608,Exact +GARD:0008660,SNOMED-CT,36785009,NA +GARD:0008661,Orphanet,2368,Exact +GARD:0008661,MeSH,D020139,Exact +GARD:0008661,UMLS,C0265706,Exact +GARD:0008661,SNOMED-CT,72951007,NA +GARD:0008661,ICD-10,Q79.3,Exact +GARD:0008661,ICD-11,LB02,Exact +GARD:0008661,OMIM,230750,Exact +GARD:0008661,MedDRA,10018046,Exact +GARD:0008663,Orphanet,114,Exact +GARD:0008663,ICD-10,Q87.5,NTBT +GARD:0008663,MeSH,C538271,Exact +GARD:0008663,OMIM,109000,Exact +GARD:0008663,UMLS,C1862381,Exact +GARD:0008663,SNOMED-CT,50123005,NA +GARD:0008672,SNOMED-CT,724207001,NA +GARD:0008672,Orphanet,261494,Exact +GARD:0008672,OMIM,610253,Exact +GARD:0008672,UMLS,C0795833,Exact +GARD:0008672,ICD-10,Q87.8,NTBT +GARD:0008683,Orphanet,79235,Exact +GARD:0008683,ICD-10,E80.5,NTBT +GARD:0008683,UMLS,C2931132,Exact +GARD:0008683,MedDRA,10011387,Exact +GARD:0008683,MeSH,C536213,Exact +GARD:0008683,UMLS,C0268311,Exact +GARD:0008683,OMIM,606785,Exact +GARD:0008683,SNOMED-CT,68067009,NA +GARD:0008686,Orphanet,3261,Exact +GARD:0008686,SNOMED-CT,702444009,NA +GARD:0008686,OMIM,618534,BTNT +GARD:0008686,MeSH,D056735,Exact +GARD:0008686,OMIM,603909,BTNT +GARD:0008686,ICD-10,D47.9,NTBT +GARD:0008686,MedDRA,10069521,Exact +GARD:0008686,UMLS,C1328840,Exact +GARD:0008686,OMIM,601859,Exact +GARD:0008686,OMIM,615559,BTNT +GARD:0008689,Orphanet,94075,Exact +GARD:0008689,UMLS,C0341305,Exact +GARD:0008692,Orphanet,1489,Exact +GARD:0008692,ICD-10,A37.0,BTNT +GARD:0008692,SNOMED-CT,27836007,NA +GARD:0008692,ICD-10,A37.8,BTNT +GARD:0008692,MedDRA,10047974,Exact +GARD:0008692,ICD-10,A37.9,BTNT +GARD:0008692,MeSH,D014917,Exact +GARD:0008692,MedDRA,10034738,Exact +GARD:0008692,ICD-10,A37.1,BTNT +GARD:0008692,UMLS,C0043167,Exact +GARD:0008692,UMLS,C0043168,Exact +GARD:0008694,Orphanet,216796,Exact +GARD:0008694,ICD-10,Q78.0,NTBT +GARD:0008694,OMIM,166200,Exact +GARD:0008694,OMIM,166230,BTNT +GARD:0008694,SNOMED-CT,385482004,NA +GARD:0008695,SNOMED-CT,385483009,NA +GARD:0008695,Orphanet,216812,Exact +GARD:0008695,OMIM,610968,BTNT +GARD:0008695,OMIM,614856,BTNT +GARD:0008695,OMIM,613848,BTNT +GARD:0008695,OMIM,616229,BTNT +GARD:0008695,OMIM,259420,Exact +GARD:0008695,OMIM,613982,BTNT +GARD:0008695,OMIM,615220,BTNT +GARD:0008695,OMIM,610915,BTNT +GARD:0008695,ICD-10,Q78.0,NTBT +GARD:0008695,MeSH,C536044,Exact +GARD:0008695,OMIM,259440,BTNT +GARD:0008695,UMLS,C0268362,Exact +GARD:0008695,OMIM,610682,BTNT +GARD:0008696,Orphanet,216820,Exact +GARD:0008696,MeSH,C536045,Exact +GARD:0008696,OMIM,613849,BTNT +GARD:0008696,UMLS,C0268363,Exact +GARD:0008696,ICD-10,Q78.0,NTBT +GARD:0008696,OMIM,259440,BTNT +GARD:0008696,OMIM,615066,BTNT +GARD:0008696,OMIM,166220,Exact +GARD:0008696,OMIM,616507,BTNT +GARD:0008696,OMIM,613982,BTNT +GARD:0008696,OMIM,615220,BTNT +GARD:0008696,OMIM,610968,BTNT +GARD:0008696,OMIM,610682,BTNT +GARD:0008696,SNOMED-CT,205497004,NA +GARD:0008698,Orphanet,53697,Exact +GARD:0008698,OMIM,166260,Exact +GARD:0008698,SNOMED-CT,715568002,NA +GARD:0008699,Orphanet,216828,Exact +GARD:0008699,OMIM,610967,Exact +GARD:0008699,ICD-10,Q78.0,NTBT +GARD:0008699,MeSH,C536046,Exact +GARD:0008699,UMLS,C2931093,Exact +GARD:0008699,UMLS,C1970414,Exact +GARD:0008700,OMIM,613982,Exact +GARD:0008700,DiseaseOntology,110350,NA +GARD:0008700,UMLS,C3279564,NA +GARD:0008700,GeneticAlliance,9057,NA +GARD:0008701,OMIM,610682,Exact +GARD:0008701,UMLS,C1853162,NA +GARD:0008701,DiseaseOntology,110337,NA +GARD:0008701,GeneticAlliance,5462,NA +GARD:0008702,Orphanet,2134,Exact +GARD:0008702,OMIM,612922,BTNT +GARD:0008702,OMIM,615008,BTNT +GARD:0008702,UMLS,C2931788,Exact +GARD:0008702,OMIM,612925,BTNT +GARD:0008702,OMIM,609814,BTNT +GARD:0008702,OMIM,612926,BTNT +GARD:0008702,OMIM,235400,BTNT +GARD:0008702,ICD-10,D59.3,NTBT +GARD:0008702,MeSH,C538266,Exact +GARD:0008702,OMIM,612924,BTNT +GARD:0008702,OMIM,612923,BTNT +GARD:0008703,SNOMED-CT,230733004,NA +GARD:0008703,Orphanet,140989,Exact +GARD:0008703,ICD-10,I67.7,NTBT +GARD:0008703,UMLS,C0751881,Exact +GARD:0008703,MeSH,D020293,Exact +GARD:0008703,UMLS,C2930862,Exact +GARD:0008703,MeSH,C535276,Exact +GARD:0008707,Orphanet,93322,Exact +GARD:0008707,ICD-10,Q72.5,Exact +GARD:0008707,OMIM,275220,Exact +GARD:0008707,UMLS,C0265633,Exact +GARD:0008707,ICD-11,LB9A.1,Exact +GARD:0008707,SNOMED-CT,42808000,NA +GARD:0008709,Orphanet,86789,Exact +GARD:0008709,ICD-10,Q74.1,NTBT +GARD:0008709,UMLS,C1868577,Exact +GARD:0008709,ICD-11,LB95,Exact +GARD:0008709,OMIM,168860,Exact +GARD:0008709,MeSH,C535568,Exact +GARD:0008711,Orphanet,268129,Exact +GARD:0008711,ICD-10,G71.8,NTBT +GARD:0008711,UMLS,C1866785,Exact +GARD:0008711,OMIM,182920,Exact +GARD:0008711,SNOMED-CT,765092004,NA +GARD:0008713,Orphanet,93296,Exact +GARD:0008713,ICD-10,Q77.0,NTBT +GARD:0008713,UMLS,C0220685,Exact +GARD:0008713,MeSH,C536017,Exact +GARD:0008713,OMIM,200610,Exact +GARD:0008713,SNOMED-CT,254061001,NA +GARD:0008717,SNOMED-CT,717823001,NA +GARD:0008717,Orphanet,166272,Exact +GARD:0008717,OMIM,184260,Exact +GARD:0008717,UMLS,C0018036,Exact +GARD:0008717,UMLS,C2745953,Exact +GARD:0008717,ICD-10,Q78.8,NTBT +GARD:0008719,SNOMED-CT,782913006,NA +GARD:0008719,Orphanet,168552,Exact +GARD:0008719,UMLS,C1843706,Exact +GARD:0008719,MeSH,C535791,Exact +GARD:0008719,OMIM,607543,Exact +GARD:0008719,ICD-10,Q77.8,NTBT +GARD:0008720,Orphanet,168549,Exact +GARD:0008720,MeSH,C535795,Exact +GARD:0008720,UMLS,C1865695,Exact +GARD:0008720,ICD-10,Q77.8,NTBT +GARD:0008720,OMIM,602271,Exact +GARD:0008720,SNOMED-CT,771301002,NA +GARD:0008721,Orphanet,98809,Exact +GARD:0008721,ICD-10,G24.8,NTBT +GARD:0008721,OMIM,611031,BTNT +GARD:0008721,UMLS,C1868682,Exact +GARD:0008721,OMIM,128200,Exact +GARD:0008721,SNOMED-CT,609221008,NA +GARD:0008722,Orphanet,98810,Exact +GARD:0008722,MeSH,C537181,Exact +GARD:0008722,MedDRA,10065658,Exact +GARD:0008722,OMIM,118800,Exact +GARD:0008722,MedDRA,10065657,Exact +GARD:0008722,ICD-10,G24.8,NTBT +GARD:0008722,UMLS,C1869117,Exact +GARD:0008722,OMIM,611147,BTNT +GARD:0008722,SNOMED-CT,609218006,NA +GARD:0008723,SNOMED-CT,277597005,NA +GARD:0008723,Orphanet,86841,Exact +GARD:0008723,ICD-10,D46.7,NTBT +GARD:0008723,OMIM,153550,Exact +GARD:0008723,UMLS,C1292779,Exact +GARD:0008723,ICD-11,2A36,Exact +GARD:0008723,UMLS,C0740302,Exact +GARD:0008732,SNOMED-CT,41788008,NA +GARD:0008732,Orphanet,98879,Exact +GARD:0008732,ICD-10,D67,Exact +GARD:0008732,ICD-11,3B11.0,Exact +GARD:0008732,MedDRA,10016077,Exact +GARD:0008732,OMIM,306900,Exact +GARD:0008732,UMLS,C0008533,Exact +GARD:0008732,MeSH,D002836,Exact +GARD:0008735,SNOMED-CT,30174008,NA +GARD:0008735,Orphanet,247667,Exact +GARD:0008735,ICD-10,E83.3,NTBT +GARD:0008735,OMIM,241510,Exact +GARD:0008735,UMLS,C0220743,Exact +GARD:0008737,SNOMED-CT,3731000119107,NA +GARD:0008737,Orphanet,33208,Exact +GARD:0008737,ICD-10,F51.1,Exact +GARD:0008737,UMLS,C0751757,Exact +GARD:0008737,ICD-11,7A21,Exact +GARD:0008743,OMIM,603194,Exact +GARD:0008743,GeneticAlliance,4536,NA +GARD:0008743,DiseaseOntology,70116,NA +GARD:0008743,UMLS,C1864148,NA +GARD:0008744,OMIM,607361,Exact +GARD:0008744,DiseaseOntology,70117,NA +GARD:0008744,UMLS,C1846357,NA +GARD:0008744,GeneticAlliance,4537,NA +GARD:0008754,Orphanet,1426,Exact +GARD:0008754,UMLS,C2931048,Exact +GARD:0008754,UMLS,C1300226,Exact +GARD:0008754,ICD-10,Q77.3,NTBT +GARD:0008754,MeSH,C537299,Exact +GARD:0008754,OMIM,215140,Exact +GARD:0008754,SNOMED-CT,389261002,NA +GARD:0008755,SNOMED-CT,720511000,NA +GARD:0008755,Orphanet,1135,Exact +GARD:0008755,UMLS,C1863878,Exact +GARD:0008755,ICD-10,Q87.0,NTBT +GARD:0008755,OMIM,603457,NTBT +GARD:0008756,SNOMED-CT,702441001,NA +GARD:0008756,Orphanet,1187,Exact +GARD:0008756,UMLS,C0796028,Exact +GARD:0008756,MeSH,C535388,Exact +GARD:0008756,OMIM,301835,Exact +GARD:0008756,ICD-10,E79.8,NTBT +GARD:0008757,Orphanet,64742,Exact +GARD:0008757,UMLS,C1266144,Exact +GARD:0008757,OMIM,601200,Exact +GARD:0008757,MeSH,C537516,Exact +GARD:0008757,ICD-10,C34.9,BTNT +GARD:0008757,ICD-10,C34.1,BTNT +GARD:0008757,ICD-10,C34.3,BTNT +GARD:0008757,ICD-10,C34.2,BTNT +GARD:0008757,SNOMED-CT,707670009,NA +GARD:0008759,Orphanet,99922,Exact +GARD:0008759,ICD-10,H13.3*,Exact +GARD:0008759,UMLS,C0157721,Exact +GARD:0008759,MedDRA,10067776,Exact +GARD:0008759,ICD-11,9A62,Exact +GARD:0008759,ICD-10,L12+,Exact +GARD:0008759,SNOMED-CT,314757003,NA +GARD:0009118,Orphanet,3337,Exact +GARD:0009118,ICD-10,E72.0,NTBT +GARD:0009118,OMIM,134600,Exact +GARD:0009118,OMIM,615605,BTNT +GARD:0009118,OMIM,613388,BTNT +GARD:0009118,OMIM,618913,BTNT +GARD:0009118,SNOMED-CT,236466005,NA +GARD:0009119,Orphanet,984,Exact +GARD:0009119,ICD-11,LA75.1,Exact +GARD:0009119,UMLS,C0265780,Exact +GARD:0009119,ICD-10,Q33.3,Exact +GARD:0009119,MedDRA,10037322,Exact +GARD:0009119,SNOMED-CT,66489009,NA +GARD:0009124,Orphanet,861,Exact +GARD:0009124,UMLS,C0242387,Exact +GARD:0009124,ICD-10,Q75.4,NTBT +GARD:0009124,OMIM,618939,BTNT +GARD:0009124,UMLS,C0265241,Exact +GARD:0009124,OMIM,613717,BTNT +GARD:0009124,MedDRA,10051456,Exact +GARD:0009124,OMIM,248390,BTNT +GARD:0009124,OMIM,154500,Exact +GARD:0009124,SNOMED-CT,82203000,NA +GARD:0009125,OMIM,248390,Exact +GARD:0009125,UMLS,C1855433,NA +GARD:0009125,DiseaseOntology,80791,NA +GARD:0009125,GeneticAlliance,4444,NA +GARD:0009126,SNOMED-CT,722283003,NA +GARD:0009126,Orphanet,990,Exact +GARD:0009126,OMIM,202650,Exact +GARD:0009126,ICD-10,Q87.8,NTBT +GARD:0009128,Orphanet,98482,Exact +GARD:0009128,UMLS,C0751356,Exact +GARD:0009138,Orphanet,97242,Exact +GARD:0009138,UMLS,C0026850,Exact +GARD:0009138,ICD-11,8C70.6,Exact +GARD:0009138,ICD-10,G71.2,NTBT +GARD:0009138,UMLS,C0699743,Exact +GARD:0009142,SNOMED-CT,359804008,NA +GARD:0009142,Orphanet,2070,Exact +GARD:0009142,MedDRA,10017902,Exact +GARD:0009142,ICD-10,K52.8,NTBT +GARD:0009142,UMLS,C1262481,Exact +GARD:0009142,MeSH,C535952,Exact +GARD:0009142,UMLS,C2062326,Exact +GARD:0009145,Orphanet,171871,Exact +GARD:0009145,OMIM,177735,Exact +GARD:0009145,UMLS,C1449842,Exact +GARD:0009145,ICD-10,N25.8,NTBT +GARD:0009146,Orphanet,1340,Exact +GARD:0009146,OMIM,615280,BTNT +GARD:0009146,OMIM,615279,BTNT +GARD:0009146,OMIM,615278,BTNT +GARD:0009146,ICD-10,Q87.8,NTBT +GARD:0009146,UMLS,C1275081,Exact +GARD:0009146,OMIM,115150,Exact +GARD:0009146,MeSH,C535579,Exact +GARD:0009146,SNOMED-CT,403770008,NA +GARD:0009149,OMIM,180100,Exact +GARD:0009149,DiseaseOntology,110390,NA +GARD:0009149,UMLS,C0220701,NA +GARD:0009149,GeneticAlliance,6249,NA +GARD:0009151,OMIM,210210,Exact +GARD:0009151,GeneticAlliance,25,NA +GARD:0009151,DiseaseOntology,80580,NA +GARD:0009151,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/3-methylcrotonyl-coa-carboxylase-deficiency,NA +GARD:0009151,UMLS,C1859499,NA +GARD:0009152,Orphanet,90791,Exact +GARD:0009152,OMIM,201810,Exact +GARD:0009152,ICD-10,E25.0,NTBT +GARD:0009152,SNOMED-CT,54470008,NA +GARD:0009156,Orphanet,85274,Exact +GARD:0009156,SNOMED-CT,719160009,NA +GARD:0009156,MeSH,C537449,Exact +GARD:0009156,ICD-10,Q87.8,NTBT +GARD:0009156,UMLS,C1846170,Exact +GARD:0009156,OMIM,300218,Exact +GARD:0009157,Orphanet,85273,Exact +GARD:0009157,MeSH,C535556,Exact +GARD:0009157,OMIM,300262,Exact +GARD:0009157,ICD-10,Q87.8,NTBT +GARD:0009157,UMLS,C1846056,Exact +GARD:0009157,SNOMED-CT,719018008,NA +GARD:0009158,Orphanet,53347,Exact +GARD:0009158,UMLS,C1832918,Exact +GARD:0009158,MeSH,C536607,Exact +GARD:0009158,ICD-10,G71.8,NTBT +GARD:0009158,OMIM,601003,Exact +GARD:0009158,SNOMED-CT,703530005,NA +GARD:0009159,OMIM,300018,Exact +GARD:0009159,UMLS,C1848296,NA +GARD:0009159,DiseaseOntology,111777,NA +GARD:0009159,GeneticAlliance,7613,NA +GARD:0009161,Orphanet,79280,Exact +GARD:0009161,UMLS,C1836522,Exact +GARD:0009161,ICD-10,E77.1,NTBT +GARD:0009161,OMIM,609242,Exact +GARD:0009163,SNOMED-CT,773404000,NA +GARD:0009163,Orphanet,353298,Exact +GARD:0009163,ICD-10,Q77.7,NTBT +GARD:0009163,UMLS,C1846059,Exact +GARD:0009163,OMIM,300258,ND (not yet decided/unable to decide) +GARD:0009163,OMIM,616651,Exact +GARD:0009164,SNOMED-CT,709281006,NA +GARD:0009164,Orphanet,97238,Exact +GARD:0009164,MeSH,C535685,Exact +GARD:0009164,UMLS,C1853698,Exact +GARD:0009164,OMIM,600332,BTNT +GARD:0009164,ICD-10,G71.8,NTBT +GARD:0009164,MedDRA,10069417,Exact +GARD:0009164,OMIM,606072,Exact +GARD:0009165,OMIM,600332,Exact +GARD:0009165,UMLS,C1838254,NA +GARD:0009165,DiseaseOntology,70308,NA +GARD:0009165,GeneticAlliance,6341,NA +GARD:0009166,OMIM,606282,Exact +GARD:0009166,UMLS,C1853451,NA +GARD:0009166,DiseaseOntology,110554,NA +GARD:0009167,OMIM,606346,Exact +GARD:0009167,GeneticAlliance,8137,NA +GARD:0009167,DiseaseOntology,110552,NA +GARD:0009167,UMLS,C2931767,NA +GARD:0009168,Orphanet,85195,Exact +GARD:0009168,OMIM,174810,Exact +GARD:0009168,ICD-10,M89.5,NTBT +GARD:0009168,UMLS,C0432292,Exact +GARD:0009168,MeSH,C536335,Exact +GARD:0009168,SNOMED-CT,254153009,NA +GARD:0009169,Orphanet,97346,Exact +GARD:0009169,MeSH,C538209,Exact +GARD:0009169,ICD-10,E85.4+,NTBT +GARD:0009169,OMIM,117300,Exact +GARD:0009169,ICD-10,I68.0*,NTBT +GARD:0009169,UMLS,C1861735,Exact +GARD:0009169,SNOMED-CT,783258000,NA +GARD:0009170,SNOMED-CT,723362004,NA +GARD:0009170,Orphanet,55654,Exact +GARD:0009170,OMIM,607903,BTNT +GARD:0009170,OMIM,615885,BTNT +GARD:0009170,UMLS,C1854310,Exact +GARD:0009170,OMIM,605389,Exact +GARD:0009170,ICD-10,L65.8,NTBT +GARD:0009170,OMIM,614238,BTNT +GARD:0009170,OMIM,604379,BTNT +GARD:0009170,MeSH,C537160,Exact +GARD:0009170,OMIM,618275,BTNT +GARD:0009170,OMIM,278150,BTNT +GARD:0009170,OMIM,615059,BTNT +GARD:0009170,OMIM,614237,BTNT +GARD:0009172,OMIM,148700,Exact +GARD:0009172,Orphanet,50942,NTBT +GARD:0009172,UMLS,C2931122,NA +GARD:0009172,GeneticAlliance,3985,NA +GARD:0009173,OMIM,607654,Exact +GARD:0009173,Orphanet,50942,NTBT +GARD:0009173,GeneticAlliance,3986,NA +GARD:0009173,UMLS,C2931123,NA +GARD:0009174,Orphanet,306674,Exact +GARD:0009174,OMIM,606693,Exact +GARD:0009174,UMLS,C1847640,Exact +GARD:0009174,ICD-10,G23.0,NTBT +GARD:0009174,SNOMED-CT,723992000,NA +GARD:0009175,Orphanet,171695,Exact +GARD:0009175,UMLS,C1850100,Exact +GARD:0009175,OMIM,260300,Exact +GARD:0009175,ICD-10,G20,NTBT +GARD:0009175,OMIM,168100,BTNT +GARD:0009175,OMIM,168601,NTBT +GARD:0009175,SNOMED-CT,783012006,NA +GARD:0009176,SNOMED-CT,724015007,NA +GARD:0009176,Orphanet,69126,Exact +GARD:0009176,ICD-10,D89.8,NTBT +GARD:0009176,OMIM,604416,Exact +GARD:0009176,MeSH,C536253,Exact +GARD:0009176,UMLS,C1858361,Exact +GARD:0009177,Orphanet,137776,Exact +GARD:0009177,UMLS,C1843478,Exact +GARD:0009177,OMIM,607598,Exact +GARD:0009177,ICD-10,Q68.8,NTBT +GARD:0009177,SNOMED-CT,715419004,NA +GARD:0009178,Orphanet,85282,Exact +GARD:0009178,OMIM,300148,Exact +GARD:0009178,ICD-10,Q87.8,NTBT +GARD:0009178,UMLS,C2931496,Exact +GARD:0009178,MeSH,C537451,Exact +GARD:0009178,SNOMED-CT,722037004,NA +GARD:0009178,UMLS,C1846278,Exact +GARD:0009179,SNOMED-CT,312925009,NA +GARD:0009179,Orphanet,75327,Exact +GARD:0009179,ICD-10,H35.5,NTBT +GARD:0009179,MeSH,C537835,Exact +GARD:0009179,UMLS,C0730294,Exact +GARD:0009179,OMIM,136550,Exact +GARD:0009180,Orphanet,97560,Exact +GARD:0009180,SNOMED-CT,722119002,NA +GARD:0009180,OMIM,614692,Exact +GARD:0009180,ICD-10,N04.2,NTBT +GARD:0009180,UMLS,C0086445,Exact +GARD:0009181,Orphanet,86,Exact +GARD:0009181,OMIM,611891,BTNT +GARD:0009181,OMIM,614375,BTNT +GARD:0009181,OMIM,609782,BTNT +GARD:0009181,OMIM,100070,Exact +GARD:0009181,ICD-10,I71.4,NTBT +GARD:0009181,SNOMED-CT,715364001,NA +GARD:0009182,Orphanet,93293,Exact +GARD:0009182,OMIM,607323,Exact +GARD:0009182,SNOMED-CT,699867001,NA +GARD:0009182,UMLS,C1623209,Exact +GARD:0009182,ICD-10,Q87.8,NTBT +GARD:0009184,Orphanet,1159,Exact +GARD:0009184,OMIM,208230,Exact +GARD:0009184,ICD-10,Q77.7,NTBT +GARD:0009184,UMLS,C0432215,Exact +GARD:0009184,MeSH,C535387,Exact +GARD:0009184,SNOMED-CT,254065005,NA +GARD:0009185,SNOMED-CT,718230004,NA +GARD:0009185,Orphanet,99898,Exact +GARD:0009185,ICD-10,D84.8,NTBT +GARD:0009185,MeSH,C535530,Exact +GARD:0009185,OMIM,209950,NTBT +GARD:0009185,UMLS,C2930924,Exact +GARD:0009189,Orphanet,101084,Exact +GARD:0009189,ICD-10,G60.0,NTBT +GARD:0009189,OMIM,607678,Exact +GARD:0009189,MeSH,C537985,Exact +GARD:0009189,UMLS,C1843247,Exact +GARD:0009189,SNOMED-CT,719979008,NA +GARD:0009190,Orphanet,90658,Exact +GARD:0009190,UMLS,C1861669,Exact +GARD:0009190,MeSH,C537986,Exact +GARD:0009190,ICD-10,G60.0,NTBT +GARD:0009190,OMIM,118300,Exact +GARD:0009190,MeSH,C538078,Exact +GARD:0009190,UMLS,C2931686,Exact +GARD:0009190,UMLS,C3495591,Exact +GARD:0009190,SNOMED-CT,715666007,NA +GARD:0009191,Orphanet,101085,Exact +GARD:0009191,OMIM,607734,NTBT +GARD:0009191,UMLS,C1843164,Exact +GARD:0009191,ICD-10,G60.0,NTBT +GARD:0009191,SNOMED-CT,719980006,NA +GARD:0009192,Orphanet,99936,Exact +GARD:0009192,ICD-10,G60.0,NTBT +GARD:0009192,OMIM,600882,Exact +GARD:0009192,UMLS,C1833219,Exact +GARD:0009192,SNOMED-CT,717008005,NA +GARD:0009193,Orphanet,99939,Exact +GARD:0009193,ICD-10,G60.0,NTBT +GARD:0009193,SNOMED-CT,717012004,NA +GARD:0009193,UMLS,C1843225,Exact +GARD:0009193,OMIM,607684,Exact +GARD:0009194,Orphanet,99940,Exact +GARD:0009194,UMLS,C1847823,Exact +GARD:0009194,OMIM,606595,Exact +GARD:0009194,ICD-10,G60.0,NTBT +GARD:0009194,SNOMED-CT,719510006,NA +GARD:0009195,SNOMED-CT,719511005,NA +GARD:0009195,Orphanet,99941,Exact +GARD:0009195,UMLS,C1837805,Exact +GARD:0009195,OMIM,608591,Exact +GARD:0009195,ICD-10,G60.0,NTBT +GARD:0009196,SNOMED-CT,720637005,NA +GARD:0009196,Orphanet,101102,Exact +GARD:0009196,UMLS,C1843173,Exact +GARD:0009196,ICD-10,G60.0,NTBT +GARD:0009196,MeSH,C535415,Exact +GARD:0009196,OMIM,607731,Exact +GARD:0009197,SNOMED-CT,717013009,NA +GARD:0009197,Orphanet,99942,Exact +GARD:0009197,OMIM,607677,Exact +GARD:0009197,UMLS,C3888087,Exact +GARD:0009197,ICD-10,G60.0,NTBT +GARD:0009198,SNOMED-CT,717014003,NA +GARD:0009198,Orphanet,99943,Exact +GARD:0009198,UMLS,C1843153,Exact +GARD:0009198,OMIM,607736,Exact +GARD:0009198,ICD-10,G60.0,NTBT +GARD:0009199,Orphanet,99944,Exact +GARD:0009199,ICD-10,G60.0,NTBT +GARD:0009199,UMLS,C1842983,Exact +GARD:0009199,OMIM,607831,NTBT +GARD:0009199,UMLS,C1842984,Exact +GARD:0009199,SNOMED-CT,719512003,NA +GARD:0009200,Orphanet,99956,Exact +GARD:0009200,ICD-10,G60.0,NTBT +GARD:0009200,OMIM,604563,Exact +GARD:0009200,MeSH,C535421,Exact +GARD:0009200,UMLS,C1858278,Exact +GARD:0009200,SNOMED-CT,715800000,NA +GARD:0009201,Orphanet,99949,Exact +GARD:0009201,UMLS,C1866636,Exact +GARD:0009201,OMIM,601596,Exact +GARD:0009201,MeSH,C535423,Exact +GARD:0009201,ICD-10,G60.0,NTBT +GARD:0009201,SNOMED-CT,715797002,NA +GARD:0009203,Orphanet,99951,Exact +GARD:0009203,OMIM,605253,Exact +GARD:0009203,ICD-10,G60.0,NTBT +GARD:0009203,MeSH,C535301,Exact +GARD:0009203,SNOMED-CT,763135001,NA +GARD:0009204,Orphanet,64748,Exact +GARD:0009204,MeSH,C538392,Exact +GARD:0009204,OMIM,618184,NTBT +GARD:0009204,ICD-10,G60.0,NTBT +GARD:0009204,UMLS,C0011195,Exact +GARD:0009204,SNOMED-CT,111499002,NA +GARD:0009204,OMIM,145900,Exact +GARD:0009206,Orphanet,352670,Exact +GARD:0009206,OMIM,615185,Exact +GARD:0009206,ICD-10,G60.0,NTBT +GARD:0009206,SNOMED-CT,770759001,NA +GARD:0009207,Orphanet,100046,Exact +GARD:0009207,OMIM,607791,Exact +GARD:0009207,ICD-10,G60.0,NTBT +GARD:0009207,UMLS,C1843075,Exact +GARD:0009207,SNOMED-CT,765747004,NA +GARD:0009208,SNOMED-CT,771143004,NA +GARD:0009208,Orphanet,64751,Exact +GARD:0009208,ICD-10,G60.0,NTBT +GARD:0009208,OMIM,600361,Exact +GARD:0009210,SNOMED-CT,237617006,NA +GARD:0009210,Orphanet,49827,Exact +GARD:0009210,MeSH,C536510,Exact +GARD:0009210,OMIM,249270,Exact +GARD:0009210,UMLS,C0342287,Exact +GARD:0009210,ICD-10,Q21.0,Exact +GARD:0009212,Orphanet,2879,Exact +GARD:0009212,ICD-10,Q87.2,NTBT +GARD:0009212,OMIM,276820,Exact +GARD:0009212,SNOMED-CT,715522000,NA +GARD:0009217,SNOMED-CT,721979005,NA +GARD:0009217,Orphanet,86914,Exact +GARD:0009217,OMIM,152900,Exact +GARD:0009217,UMLS,C1835272,Exact +GARD:0009225,SNOMED-CT,702312009,NA +GARD:0009225,Orphanet,1412,Exact +GARD:0009225,MeSH,C536943,Exact +GARD:0009225,OMIM,186400,BTNT +GARD:0009225,OMIM,186570,Exact +GARD:0009225,UMLS,C1861305,Exact +GARD:0009225,ICD-10,Q74.8,NTBT +GARD:0009228,SNOMED-CT,204942005,NA +GARD:0009228,Orphanet,411709,Exact +GARD:0009228,UMLS,C1619700,Exact +GARD:0009228,ICD-10,Q60.0,BTNT +GARD:0009228,UMLS,C0542519,Exact +GARD:0009228,UMLS,C1609433,Exact +GARD:0009228,OMIM,191830,BTNT +GARD:0009228,ICD-10,Q60.1,BTNT +GARD:0009228,OMIM,615721,BTNT +GARD:0009228,ICD-10,Q60.2,BTNT +GARD:0009232,Orphanet,1136,Exact +GARD:0009232,UMLS,C0003803,Exact +GARD:0009232,ICD-11,LA03,Exact +GARD:0009232,MedDRA,10056945,Exact +GARD:0009232,UMLS,C0555206,Exact +GARD:0009232,UMLS,C0750930,Exact +GARD:0009232,OMIM,207950,Exact +GARD:0009232,ICD-10,Q07.0,Exact +GARD:0009233,Orphanet,268882,Exact +GARD:0009233,ICD-10,G95.0,NTBT +GARD:0009233,MedDRA,10056944,Exact +GARD:0009233,OMIM,118420,Exact +GARD:0009233,SNOMED-CT,253185002,NA +GARD:0009233,UMLS,C0750929,Exact +GARD:0009233,ICD-11,LA07.4,Exact +GARD:0009237,Orphanet,140896,Exact +GARD:0009237,MedDRA,10061982,Exact +GARD:0009237,ICD-11,1D65,Exact +GARD:0009237,ICD-10,U04.9,Exact +GARD:0009237,SNOMED-CT,398447004,NA +GARD:0009237,MeSH,D045169,Exact +GARD:0009237,UMLS,C1175175,Exact +GARD:0009239,Orphanet,90020,Exact +GARD:0009239,OMIM,105500,Exact +GARD:0009239,ICD-10,G12.2,NTBT +GARD:0009239,UMLS,C0543859,Exact +GARD:0009242,SNOMED-CT,715829003,NA +GARD:0009242,Orphanet,164736,Exact +GARD:0009242,ICD-10,G47.2,NTBT +GARD:0009242,UMLS,C1858496,Exact +GARD:0009242,OMIM,604348,Exact +GARD:0009242,OMIM,616882,BTNT +GARD:0009242,OMIM,615224,BTNT +GARD:0009247,SNOMED-CT,713516007,NA +GARD:0009247,Orphanet,48686,Exact +GARD:0009247,ICD-11,2A81.9,Exact +GARD:0009247,MeSH,D054685,Exact +GARD:0009247,MedDRA,10065857,Exact +GARD:0009247,UMLS,C1292753,Exact +GARD:0009247,ICD-10,C83.8,NTBT +GARD:0009252,Orphanet,91500,Exact +GARD:0009252,MeSH,C536922,Exact +GARD:0009252,ICD-10,N10,NTBT +GARD:0009252,UMLS,C1843273,Exact +GARD:0009252,MedDRA,10069039,Exact +GARD:0009252,OMIM,607665,Exact +GARD:0009252,MedDRA,10069034,Exact +GARD:0009252,UMLS,C2609298,Exact +GARD:0009252,UMLS,C1639520,Exact +GARD:0009252,SNOMED-CT,418839003,NA +GARD:0009255,Orphanet,1934,Exact +GARD:0009255,MedDRA,10071545,Exact +GARD:0009255,OMIM,609304,BTNT +GARD:0009255,OMIM,613402,BTNT +GARD:0009255,OMIM,617276,BTNT +GARD:0009255,ICD-10,G40.3,NTBT +GARD:0009255,OMIM,613721,BTNT +GARD:0009255,OMIM,618548,BTNT +GARD:0009255,OMIM,617350,BTNT +GARD:0009255,OMIM,617391,BTNT +GARD:0009255,OMIM,619340,BTNT +GARD:0009255,OMIM,615473,BTNT +GARD:0009255,OMIM,617493,BTNT +GARD:0009255,OMIM,612164,BTNT +GARD:0009255,OMIM,300672,BTNT +GARD:0009255,OMIM,617599,BTNT +GARD:0009255,UMLS,C0393706,Exact +GARD:0009255,OMIM,617389,BTNT +GARD:0009255,OMIM,616341,BTNT +GARD:0009255,OMIM,308350,BTNT +GARD:0009255,SNOMED-CT,230429005,NA +GARD:0009257,Orphanet,57145,Exact +GARD:0009257,MeSH,D050798,Exact +GARD:0009257,ICD-10,G44.8,NTBT +GARD:0009257,MedDRA,10061981,Exact +GARD:0009257,UMLS,C1262087,Exact +GARD:0009257,SNOMED-CT,725058003,NA +GARD:0009258,Orphanet,65250,Exact +GARD:0009258,UMLS,C0520720,Exact +GARD:0009258,ICD-10,G54.8,NTBT +GARD:0009258,SNOMED-CT,81634008,NA +GARD:0009265,Orphanet,71277,Exact +GARD:0009265,OMIM,606777,Exact +GARD:0009265,UMLS,C1847501,Exact +GARD:0009265,ICD-10,G40.4,NTBT +GARD:0009266,Orphanet,79140,Exact +GARD:0009266,ICD-10,C44.6,BTNT +GARD:0009266,ICD-10,C44.7,BTNT +GARD:0009266,ICD-10,C44.3,BTNT +GARD:0009266,UMLS,C0007129,Exact +GARD:0009266,SNOMED-CT,253001006,NA +GARD:0009268,OMIM,137950,Exact +GARD:0009268,Orphanet,84090,NTBT +GARD:0009268,UMLS,C0403557,NA +GARD:0009268,SNOMED-CT,236535001,NA +GARD:0009275,SNOMED-CT,417065002,NA +GARD:0009275,Orphanet,98960,Exact +GARD:0009275,OMIM,602082,Exact +GARD:0009275,UMLS,C1562894,Exact +GARD:0009275,ICD-10,H18.5,NTBT +GARD:0009275,MeSH,C535942,Exact +GARD:0009276,Orphanet,98961,Exact +GARD:0009276,UMLS,C0339278,Exact +GARD:0009276,MeSH,C535476,Exact +GARD:0009276,ICD-10,H18.5,NTBT +GARD:0009276,OMIM,608470,Exact +GARD:0009276,SNOMED-CT,231930000,NA +GARD:0009277,Orphanet,98967,Exact +GARD:0009277,OMIM,121800,Exact +GARD:0009277,MeSH,C535475,Exact +GARD:0009277,UMLS,C0271287,Exact +GARD:0009277,ICD-10,H18.5,NTBT +GARD:0009277,SNOMED-CT,419395007,NA +GARD:0009278,Orphanet,98963,Exact +GARD:0009278,MeSH,C535474,Exact +GARD:0009278,UMLS,C1275685,Exact +GARD:0009278,OMIM,607541,Exact +GARD:0009278,ICD-10,H18.5,NTBT +GARD:0009278,SNOMED-CT,397568004,NA +GARD:0009279,Orphanet,51208,Exact +GARD:0009279,OMIM,229100,Exact +GARD:0009279,ICD-10,E70.8,NTBT +GARD:0009279,UMLS,C0268609,Exact +GARD:0009279,SNOMED-CT,59761008,NA +GARD:0009280,Orphanet,1415,Exact +GARD:0009280,UMLS,C0795969,Exact +GARD:0009280,OMIM,612726,Exact +GARD:0009280,SNOMED-CT,720636001,NA +GARD:0009281,Orphanet,404560,Exact +GARD:0009281,OMIM,606719,BTNT +GARD:0009281,UMLS,C0013403,Exact +GARD:0009281,OMIM,155600,BTNT +GARD:0009281,UMLS,C0205747,Exact +GARD:0009281,ICD-10,C43.9,NTBT +GARD:0009281,UMLS,C2314896,Exact +GARD:0009281,UMLS,C1838547,Exact +GARD:0009282,Orphanet,370131,Exact +GARD:0009282,UMLS,C2931293,Exact +GARD:0009282,ICD-10,D69.1,NTBT +GARD:0009282,SNOMED-CT,718553004,NA +GARD:0009283,SNOMED-CT,715366004,NA +GARD:0009283,Orphanet,1168,Exact +GARD:0009283,UMLS,C1859598,Exact +GARD:0009283,ICD-10,G11.3,NTBT +GARD:0009283,OMIM,208920,Exact +GARD:0009285,Orphanet,67043,Exact +GARD:0009285,UMLS,C0000880,Exact +GARD:0009285,MeSH,D015823,Exact +GARD:0009285,MedDRA,10069408,Exact +GARD:0009285,ICD-10,B60.1+,NTBT +GARD:0009285,ICD-10,H19.2*,NTBT +GARD:0009285,SNOMED-CT,231896005,NA +GARD:0009287,Orphanet,1190,Exact +GARD:0009287,OMIM,108720,Exact +GARD:0009287,ICD-10,Q78.8,NTBT +GARD:0009287,SNOMED-CT,725141006,NA +GARD:0009287,UMLS,C0265283,Exact +GARD:0009287,MeSH,C535396,Exact +GARD:0009288,Orphanet,85285,Exact +GARD:0009288,UMLS,C1839320,Exact +GARD:0009288,ICD-10,Q87.8,NTBT +GARD:0009288,OMIM,312840,Exact +GARD:0009288,MeSH,C536630,Exact +GARD:0009288,SNOMED-CT,719010001,NA +GARD:0009292,Orphanet,77299,Exact +GARD:0009292,OMIM,611222,Exact +GARD:0009292,ICD-10,Q11.2,NTBT +GARD:0009292,SNOMED-CT,720010009,NA +GARD:0009294,Orphanet,65283,Exact +GARD:0009294,UMLS,C1832916,Exact +GARD:0009294,OMIM,601005,Exact +GARD:0009294,ICD-10,I49.8,NTBT +GARD:0009294,OMIM,618447,NTBT +GARD:0009294,MeSH,C536962,Exact +GARD:0009295,Orphanet,1860,Exact +GARD:0009295,UMLS,C1868678,Exact +GARD:0009295,UMLS,C2931282,Exact +GARD:0009295,ICD-10,Q77.1,NTBT +GARD:0009295,OMIM,187600,Exact +GARD:0009296,Orphanet,101004,Exact +GARD:0009296,UMLS,C1843569,Exact +GARD:0009296,ICD-10,G11.4,NTBT +GARD:0009296,OMIM,607584,Exact +GARD:0009296,SNOMED-CT,785304005,NA +GARD:0009297,SNOMED-CT,234571003,NA +GARD:0009297,Orphanet,51636,Exact +GARD:0009297,MeSH,C536697,Exact +GARD:0009297,OMIM,193670,Exact +GARD:0009297,ICD-10,D81.8,NTBT +GARD:0009297,UMLS,C0472817,Exact +GARD:0009298,Orphanet,3006,Exact +GARD:0009298,ICD-11,8A61.0Y,NTBT +GARD:0009298,UMLS,C1849508,Exact +GARD:0009298,SNOMED-CT,734434007,NA +GARD:0009298,MeSH,C536254,Exact +GARD:0009298,ICD-10,G40.8,Exact +GARD:0009298,OMIM,266100,Exact +GARD:0009298,OMIM,617290,Exact +GARD:0009298,UMLS,C1291560,Exact +GARD:0009299,Orphanet,73423,Exact +GARD:0009299,UMLS,C0274888,Exact +GARD:0009299,ICD-10,T62.2,NTBT +GARD:0009299,SNOMED-CT,49434001,NA +GARD:0009304,Orphanet,70567,Exact +GARD:0009304,MeSH,D018281,Exact +GARD:0009304,MeSH,D001650,Exact +GARD:0009304,UMLS,C0740277,Exact +GARD:0009304,UMLS,C0206698,Exact +GARD:0009304,ICD-10,C22.1,Exact +GARD:0009304,ICD-11,2C12.10,BTNT +GARD:0009304,MedDRA,10008593,Exact +GARD:0009304,MedDRA,10004593,Exact +GARD:0009304,ICD-10,C24.9,BTNT +GARD:0009304,ICD-10,C24.0,BTNT +GARD:0009304,OMIM,615619,BTNT +GARD:0009304,ICD-10,C24.8,BTNT +GARD:0009304,ICD-11,XH7M15,Exact +GARD:0009304,SNOMED-CT,312104005,NA +GARD:0009316,SNOMED-CT,255046005,NA +GARD:0009316,Orphanet,877,Exact +GARD:0009316,UMLS,C0014132,Exact +GARD:0009316,UMLS,C0206754,Exact +GARD:0009316,UMLS,C0003650,Exact +GARD:0009318,Orphanet,46135,Exact +GARD:0009318,SNOMED-CT,448254007,NA +GARD:0009318,MedDRA,10036685,Exact +GARD:0009318,UMLS,C0280803,Exact +GARD:0009318,UMLS,C0240803,Exact +GARD:0009318,ICD-10,C83.3,NTBT +GARD:0009319,SNOMED-CT,425333006,NA +GARD:0009319,Orphanet,98274,Exact +GARD:0009319,UMLS,C1292778,Exact +GARD:0009319,UMLS,C0027022,Exact +GARD:0009319,MeSH,D009196,Exact +GARD:0009319,MedDRA,10028576,Exact +GARD:0009325,Orphanet,363579,Exact +GARD:0009330,SNOMED-CT,254869000,NA +GARD:0009330,Orphanet,35807,Exact +GARD:0009330,UMLS,C0346180,Exact +GARD:0009330,OMIM,603737,Exact +GARD:0009330,ICD-10,C56,NTBT +GARD:0009331,Orphanet,33402,Exact +GARD:0009331,OMIM,114550,NTBT +GARD:0009331,ICD-10,C22.0,NTBT +GARD:0009344,SNOMED-CT,254632001,NA +GARD:0009344,Orphanet,70573,Exact +GARD:0009344,ICD-10,C34.9,NTBT +GARD:0009344,OMIM,182280,Exact +GARD:0009344,UMLS,C0149925,Exact +GARD:0009344,ICD-11,2C25.1,Exact +GARD:0009348,SNOMED-CT,254893005,NA +GARD:0009348,Orphanet,180247,Exact +GARD:0009348,ICD-10,C52,NTBT +GARD:0009348,UMLS,C0262659,Exact +GARD:0009349,Orphanet,494418,Exact +GARD:0009349,ICD-10,C51.8,Exact +GARD:0009351,Orphanet,98275,Exact +GARD:0009351,MeSH,D054437,Exact +GARD:0009351,UMLS,C1301355,Exact +GARD:0009351,SNOMED-CT,445738007,NA +GARD:0009362,Orphanet,398934,Exact +GARD:0009362,UMLS,C0677886,Exact +GARD:0009363,Orphanet,206473,Exact +GARD:0009363,UMLS,C3665489,Exact +GARD:0009363,ICD-10,C56,NTBT +GARD:0009363,SNOMED-CT,764791008,NA +GARD:0009364,Orphanet,180824,Exact +GARD:0009364,MedDRA,10061902,Exact +GARD:0009364,UMLS,C0030297,Exact +GARD:0009366,Orphanet,398043,Exact +GARD:0009366,ICD-10,C60.0,NTBT +GARD:0009366,UMLS,C0153601,Exact +GARD:0009366,ICD-10,C60.8,NTBT +GARD:0009366,ICD-10,C60.2,NTBT +GARD:0009366,ICD-10,C60.9,NTBT +GARD:0009366,ICD-10,C60.1,NTBT +GARD:0009366,UMLS,C0853105,Exact +GARD:0009369,Orphanet,251909,Exact +GARD:0009369,ICD-10,C75.3,NTBT +GARD:0009369,UMLS,C0205898,Exact +GARD:0009369,MedDRA,10050487,Exact +GARD:0009369,SNOMED-CT,767448007,NA +GARD:0009371,Orphanet,300385,Exact +GARD:0009371,ICD-10,C75.1,NTBT +GARD:0009371,UMLS,C0346300,Exact +GARD:0009371,SNOMED-CT,254955001,NA +GARD:0009373,Orphanet,454714,Exact +GARD:0009373,ICD-10,C90.1,Exact +GARD:0009373,ICD-11,2A83.4,Exact +GARD:0009373,UMLS,C0023484,Exact +GARD:0009376,Orphanet,598216,Exact +GARD:0009400,Orphanet,66529,Exact +GARD:0009400,UMLS,C1168291,Exact +GARD:0009400,UMLS,C1739395,Exact +GARD:0009400,ICD-10,I42.8,NTBT +GARD:0009400,ICD-11,BC43.5,Exact +GARD:0009400,SNOMED-CT,441541008,NA +GARD:0009404,Orphanet,498228,Exact +GARD:0009404,ICD-10,C61,NTBT +GARD:0009412,Orphanet,139396,Exact +GARD:0009412,ICD-10,E71.3,NTBT +GARD:0009412,OMIM,300100,NTBT +GARD:0009418,SNOMED-CT,715528001,NA +GARD:0009418,Orphanet,3233,Exact +GARD:0009418,OMIM,120040,Exact +GARD:0009420,Orphanet,2670,Exact +GARD:0009420,ICD-10,Q13.8,NTBT +GARD:0009420,OMIM,609049,Exact +GARD:0009420,UMLS,C1836876,Exact +GARD:0009420,MeSH,C537185,Exact +GARD:0009420,SNOMED-CT,723449004,NA +GARD:0009428,OMIM,607464,Exact +GARD:0009428,SNOMED-CT,423158009,NA +GARD:0009428,DiseaseOntology,8161,NA +GARD:0009428,UMLS,C0749424,NA +GARD:0009429,Orphanet,309796,Exact +GARD:0009429,ICD-10,Q77.3,NTBT +GARD:0009429,UMLS,C1857242,Exact +GARD:0009429,OMIM,222765,Exact +GARD:0009430,Orphanet,93583,Exact +GARD:0009430,OMIM,274150,Exact +GARD:0009430,UMLS,C1268935,Exact +GARD:0009430,ICD-10,M31.1,NTBT +GARD:0009430,SNOMED-CT,373420004,NA +GARD:0009433,Orphanet,289899,Exact +GARD:0009435,OMIM,608233,Exact +GARD:0009435,Orphanet,183678,NTBT +GARD:0009435,DiseaseOntology,60540,NA +GARD:0009435,GeneticAlliance,3390,NA +GARD:0009435,UMLS,C1842362,NA +GARD:0009441,Orphanet,420561,Exact +GARD:0009441,OMIM,611816,Exact +GARD:0009441,UMLS,C2678486,Exact +GARD:0009441,ICD-10,Q87.2,NTBT +GARD:0009441,SNOMED-CT,725140007,NA +GARD:0009442,SNOMED-CT,66937008,NA +GARD:0009442,Orphanet,366,Exact +GARD:0009442,MedDRA,10053250,Exact +GARD:0009442,ICD-10,E74.0,NTBT +GARD:0009442,UMLS,C0017922,Exact +GARD:0009442,UMLS,C2936915,Exact +GARD:0009442,OMIM,232400,Exact +GARD:0009443,Orphanet,85165,Exact +GARD:0009443,UMLS,C2674173,Exact +GARD:0009443,OMIM,616482,Exact +GARD:0009443,ICD-10,Q77.4,NTBT +GARD:0009444,Orphanet,99826,Exact +GARD:0009444,MedDRA,10026822,Exact +GARD:0009444,UMLS,C0024788,Exact +GARD:0009444,ICD-11,1D60.1,Exact +GARD:0009444,ICD-10,A98.3,Exact +GARD:0009444,SNOMED-CT,77503002,NA +GARD:0009447,SNOMED-CT,58258004,NA +GARD:0009447,Orphanet,79263,Exact +GARD:0009447,ICD-10,E75.4,NTBT +GARD:0009447,OMIM,256730,Exact +GARD:0009447,UMLS,C0268281,Exact +GARD:0009447,MeSH,C537948,Exact +GARD:0009447,UMLS,C2931673,Exact +GARD:0009448,Orphanet,295016,Exact +GARD:0009448,OMIM,114200,Exact +GARD:0009448,SNOMED-CT,29271008,NA +GARD:0009448,ICD-10,Q68.1,NTBT +GARD:0009449,Orphanet,100067,Exact +GARD:0009449,ICD-11,1C1C.1,Exact +GARD:0009449,UMLS,C1403891,Exact +GARD:0009449,MeSH,D014884,Exact +GARD:0009449,UMLS,C0043068,Exact +GARD:0009449,ICD-10,E35.1*,Exact +GARD:0009449,ICD-10,A39.1+,Exact +GARD:0009449,MedDRA,10047847,Exact +GARD:0009449,SNOMED-CT,36102002,NA +GARD:0009450,Orphanet,180176,Exact +GARD:0009450,ICD-10,N62,NTBT +GARD:0009450,OMIM,113670,Exact +GARD:0009450,SNOMED-CT,770436006,NA +GARD:0009452,Orphanet,91414,Exact +GARD:0009452,MeSH,D018296,Exact +GARD:0009452,ICD-10,D23.3,BTNT +GARD:0009452,MedDRA,10035040,Exact +GARD:0009452,UMLS,C0206711,Exact +GARD:0009452,OMIM,132600,Exact +GARD:0009452,ICD-10,D23.4,BTNT +GARD:0009452,ICD-10,D23.6,BTNT +GARD:0009452,SNOMED-CT,274901004,NA +GARD:0009453,Orphanet,37553,Exact +GARD:0009453,UMLS,C1563715,Exact +GARD:0009453,OMIM,170390,Exact +GARD:0009453,ICD-10,G72.3,NTBT +GARD:0009453,SNOMED-CT,422348008,NA +GARD:0009455,SNOMED-CT,721862000,NA +GARD:0009455,Orphanet,2318,Exact +GARD:0009455,ICD-10,Q04.3,NTBT +GARD:0009455,OMIM,614424,BTNT +GARD:0009455,OMIM,610188,BTNT +GARD:0009455,UMLS,C1855675,Exact +GARD:0009455,OMIM,612285,BTNT +GARD:0009455,OMIM,614844,NTBT +GARD:0009455,OMIM,608091,BTNT +GARD:0009455,OMIM,243910,Exact +GARD:0009455,OMIM,614465,BTNT +GARD:0009456,Orphanet,75563,Exact +GARD:0009456,MeSH,C536761,Exact +GARD:0009456,ICD-10,D64.0,NTBT +GARD:0009456,OMIM,300751,Exact +GARD:0009456,SNOMED-CT,48983004,NA +GARD:0009457,Orphanet,2924,Exact +GARD:0009457,MeSH,C536330,Exact +GARD:0009457,ICD-10,Q44.6,Exact +GARD:0009457,MedDRA,10010427,Exact +GARD:0009457,UMLS,C0158683,Exact +GARD:0009457,OMIM,617004,BTNT +GARD:0009457,MedDRA,10048834,Exact +GARD:0009457,OMIM,174050,Exact +GARD:0009457,ICD-11,DB99.10,Exact +GARD:0009457,SNOMED-CT,716196007,NA +GARD:0009458,OMIM,609192,Exact +GARD:0009458,GeneticAlliance,4289,NA +GARD:0009458,DiseaseOntology,70235,NA +GARD:0009458,UMLS,C2931764,NA +GARD:0009458,UMLS,C2674127,NA +GARD:0009458,UMLS,C1836635,NA +GARD:0009458,UMLS,C4551955,NA +GARD:0009463,SNOMED-CT,254058002,NA +GARD:0009463,Orphanet,85174,Exact +GARD:0009463,MeSH,C535826,Exact +GARD:0009463,OMIM,264180,Exact +GARD:0009463,UMLS,C0432206,Exact +GARD:0009463,ICD-10,Q78.8,NTBT +GARD:0009465,OMIM,104300,Exact +GARD:0009465,UMLS,C1541844,NA +GARD:0009465,SNOMED-CT,26929004,NA +GARD:0009465,UMLS,C1863052,NA +GARD:0009465,DiseaseOntology,80348,NA +GARD:0009465,ICD-10-CM,G30.9,NA +GARD:0009465,UMLS,C0002395,NA +GARD:0009465,ICD-10-CM,G30,NA +GARD:0009472,Orphanet,251630,Exact +GARD:0009472,OMIM,616568,NTBT +GARD:0009472,ICD-10,C71.9,NTBT +GARD:0009472,UMLS,C0334590,Exact +GARD:0009472,MedDRA,10026659,Exact +GARD:0009472,OMIM,137800,NTBT +GARD:0009472,SNOMED-CT,1156406005,NA +GARD:0009474,SNOMED-CT,44697002,NA +GARD:0009474,Orphanet,2485,Exact +GARD:0009474,OMIM,155950,Exact +GARD:0009474,UMLS,C0025239,Exact +GARD:0009474,MeSH,D008557,Exact +GARD:0009474,ICD-10,M85.8,NTBT +GARD:0009474,MedDRA,10050284,Exact +GARD:0009479,Orphanet,79311,Exact +GARD:0009479,OMIM,251110,Exact +GARD:0009479,MeSH,C537361,Exact +GARD:0009479,ICD-10,E71.1,NTBT +GARD:0009481,Orphanet,88924,Exact +GARD:0009481,UMLS,C1838327,Exact +GARD:0009481,OMIM,600273,Exact +GARD:0009481,SNOMED-CT,765331004,NA +GARD:0009484,Orphanet,247245,Exact +GARD:0009484,SNOMED-CT,733200004,NA +GARD:0009484,ICD-10,I69.0,NTBT +GARD:0009485,OMIM,137750,Exact +GARD:0009485,DiseaseOntology,10,NA +GARD:0009485,UMLS,C1825363,NA +GARD:0009485,DiseaseOntology,671,NA +GARD:0009485,GeneticAlliance,5956,NA +GARD:0009485,UMLS,C1842028,NA +GARD:0009485,DiseaseOntology,068,NA +GARD:0009486,Orphanet,88620,Exact +GARD:0009486,OMIM,107200,Exact +GARD:0009486,UMLS,C0393778,Exact +GARD:0009486,ICD-10,Q07.8,NTBT +GARD:0009486,SNOMED-CT,230502003,NA +GARD:0009487,Orphanet,2674,Exact +GARD:0009487,UMLS,C1852396,Exact +GARD:0009487,ICD-10,Q87.8,NTBT +GARD:0009487,MeSH,C536229,Exact +GARD:0009487,OMIM,123853,Exact +GARD:0009487,SNOMED-CT,732261005,NA +GARD:0009489,Orphanet,180188,Exact +GARD:0009489,OMIM,616001,BTNT +GARD:0009489,ICD-11,LB60,Exact +GARD:0009489,OMIM,113700,BTNT +GARD:0009489,UMLS,C0432357,Exact +GARD:0009489,ICD-10,Q83.0,Exact +GARD:0009489,SNOMED-CT,271020004,NA +GARD:0009491,OMIM,608553,Exact +GARD:0009491,UMLS,C1837873,NA +GARD:0009491,DiseaseOntology,110005,NA +GARD:0009492,OMIM,609376,Exact +GARD:0009492,UMLS,C1836272,NA +GARD:0009492,DiseaseOntology,110261,NA +GARD:0009493,Orphanet,602,Exact +GARD:0009493,OMIM,605820,Exact +GARD:0009493,UMLS,C1853926,Exact +GARD:0009493,UMLS,C1833373,Exact +GARD:0009493,OMIM,617158,BTNT +GARD:0009493,MeSH,C536816,Exact +GARD:0009493,ICD-10,G71.8,NTBT +GARD:0009493,SNOMED-CT,702382000,NA +GARD:0009494,Orphanet,79091,Exact +GARD:0009494,ICD-10,G71.8,NTBT +GARD:0009494,OMIM,605637,NTBT +GARD:0009494,SNOMED-CT,724349009,NA +GARD:0009495,OMIM,204700,Exact +GARD:0009495,DiseaseOntology,110057,NA +GARD:0009495,GeneticAlliance,7676,NA +GARD:0009495,UMLS,C2673922,NA +GARD:0009496,Orphanet,94088,Exact +GARD:0009496,ICD-10,N25.8,NTBT +GARD:0009496,OMIM,220150,Exact +GARD:0009496,OMIM,612076,BTNT +GARD:0009496,OMIM,307830,BTNT +GARD:0009496,OMIM,242050,BTNT +GARD:0009496,SNOMED-CT,236478009,NA +GARD:0009499,Orphanet,48818,Exact +GARD:0009499,UMLS,C0878682,Exact +GARD:0009499,MeSH,C536004,Exact +GARD:0009499,ICD-10,E83.1,NTBT +GARD:0009499,OMIM,604290,Exact +GARD:0009501,SNOMED-CT,718103001,NA +GARD:0009501,Orphanet,53372,Exact +GARD:0009501,OMIM,190100,Exact +GARD:0009501,UMLS,C2931589,Exact +GARD:0009501,MeSH,C537682,Exact +GARD:0009501,ICD-10,G25.3,NTBT +GARD:0009504,OMIM,607728,Exact +GARD:0009504,Orphanet,79152,NTBT +GARD:0009504,GeneticAlliance,5878,NA +GARD:0009504,UMLS,C1843180,NA +GARD:0009505,OMIM,175900,Exact +GARD:0009505,GeneticAlliance,5877,NA +GARD:0009505,UMLS,C1867981,NA +GARD:0009506,SNOMED-CT,720812002,NA +GARD:0009506,Orphanet,85199,Exact +GARD:0009506,OMIM,603116,Exact +GARD:0009506,MeSH,C536789,Exact +GARD:0009506,ICD-10,Q87.8,NTBT +GARD:0009506,UMLS,C1864186,Exact +GARD:0009508,Orphanet,98989,Exact +GARD:0009508,ICD-10,Q12.0,NTBT +GARD:0009508,UMLS,C0344523,Exact +GARD:0009508,MeSH,C537955,Exact +GARD:0009508,OMIM,115660,BTNT +GARD:0009508,OMIM,614422,BTNT +GARD:0009509,SNOMED-CT,699669001,NA +GARD:0009509,Orphanet,3242,Exact +GARD:0009509,OMIM,309500,Exact +GARD:0009509,ICD-10,Q87.5,NTBT +GARD:0009511,Orphanet,137675,Exact +GARD:0009511,ICD-10,I42.0,NTBT +GARD:0009511,MeSH,C535584,Exact +GARD:0009511,OMIM,212080,BTNT +GARD:0009511,OMIM,500000,Exact +GARD:0009511,UMLS,C1708371,Exact +GARD:0009511,SNOMED-CT,472317002,NA +GARD:0009514,SNOMED-CT,712989008,NA +GARD:0009514,Orphanet,180261,Exact +GARD:0009514,ICD-10,D48.6,NTBT +GARD:0009514,ICD-11,2F30.3,Exact +GARD:0009514,MedDRA,10011813,Exact +GARD:0009514,MeSH,D003557,Exact +GARD:0009514,UMLS,C0010701,Exact +GARD:0009517,Orphanet,97364,Exact +GARD:0009517,ICD-10,Q61.4,NTBT +GARD:0009517,UMLS,C1840451,Exact +GARD:0009517,MeSH,D021782,Exact +GARD:0009517,MeSH,C537373,Exact +GARD:0009517,UMLS,C1567427,Exact +GARD:0009525,Orphanet,228123,Exact +GARD:0009525,ICD-10,B38.1,BTNT +GARD:0009525,ICD-10,B38.7,BTNT +GARD:0009525,MeSH,D003047,Exact +GARD:0009525,MedDRA,10009825,Exact +GARD:0009525,ICD-10,B38.2,BTNT +GARD:0009525,ICD-10,B38.9,BTNT +GARD:0009525,UMLS,C0851907,Exact +GARD:0009525,ICD-10,B38.4,BTNT +GARD:0009525,ICD-10,B38.8,BTNT +GARD:0009525,UMLS,C0009186,Exact +GARD:0009525,ICD-10,B38.0,BTNT +GARD:0009525,UMLS,C0153257,Exact +GARD:0009525,ICD-10,B38.3,BTNT +GARD:0009525,SNOMED-CT,60826002,NA +GARD:0009528,Orphanet,210,Exact +GARD:0009528,ICD-10,A07.3,NTBT +GARD:0009528,SNOMED-CT,716860005,NA +GARD:0009534,SNOMED-CT,773738009,NA +GARD:0009534,Orphanet,2566,Exact +GARD:0009534,ICD-10,B27.0,NTBT +GARD:0009534,OMIM,226990,Exact +GARD:0009535,Orphanet,47045,Exact +GARD:0009535,SNOMED-CT,238687000,NA +GARD:0009535,OMIM,120100,BTNT +GARD:0009535,UMLS,C0343068,Exact +GARD:0009535,MedDRA,10064570,Exact +GARD:0009535,OMIM,616115,BTNT +GARD:0009535,ICD-10,L50.2,NTBT +GARD:0009546,SNOMED-CT,428111003,NA +GARD:0009546,Orphanet,31202,Exact +GARD:0009546,ICD-10,A24.4,BTNT +GARD:0009546,UMLS,C0025229,Exact +GARD:0009546,OMIM,615557,BTNT +GARD:0009546,MedDRA,10069748,Exact +GARD:0009546,ICD-10,A24.2,BTNT +GARD:0009546,MeSH,D008554,Exact +GARD:0009546,ICD-10,A24.3,BTNT +GARD:0009546,ICD-10,A24.1,BTNT +GARD:0009550,Orphanet,576370,Exact +GARD:0009550,ICD-10,A81.0,NTBT +GARD:0009550,ICD-11,8E01.2,Exact +GARD:0009553,SNOMED-CT,254290004,NA +GARD:0009553,Orphanet,70568,Exact +GARD:0009553,ICD-10,D47.9,NTBT +GARD:0009553,UMLS,C0432487,Exact +GARD:0009553,MedDRA,10051358,Exact +GARD:0009557,Orphanet,31205,Exact +GARD:0009557,UMLS,C0034686,Exact +GARD:0009557,ICD-11,1B90,Exact +GARD:0009557,MedDRA,10037904,Exact +GARD:0009557,MeSH,D011906,Exact +GARD:0009557,ICD-10,A25.1,BTNT +GARD:0009557,ICD-10,A25.0,BTNT +GARD:0009557,ICD-10,A25.9,BTNT +GARD:0009557,SNOMED-CT,1685005,NA +GARD:0009558,Orphanet,486,Exact +GARD:0009558,OMIM,257100,BTNT +GARD:0009558,OMIM,618752,BTNT +GARD:0009558,OMIM,613107,BTNT +GARD:0009558,ICD-10,D70,NTBT +GARD:0009558,OMIM,202700,Exact +GARD:0009558,SNOMED-CT,770947009,NA +GARD:0009560,Orphanet,36234,Exact +GARD:0009560,ICD-10,A48.3,Exact +GARD:0009560,ICD-11,1C45,Exact +GARD:0009560,SNOMED-CT,18504008,NA +GARD:0009564,SNOMED-CT,4834000,NA +GARD:0009564,Orphanet,99745,Exact +GARD:0009564,ICD-11,1A07,Exact +GARD:0009564,ICD-10,A01.0,Exact +GARD:0009564,UMLS,C0041466,Exact +GARD:0009568,Orphanet,49041,Exact +GARD:0009568,MeSH,D012185,Exact +GARD:0009568,SNOMED-CT,49120005,NA +GARD:0009568,UMLS,C0035357,Exact +GARD:0009568,MedDRA,10038979,Exact +GARD:0009568,ICD-10,N13.5,NTBT +GARD:0009568,OMIM,228800,BTNT +GARD:0009569,SNOMED-CT,276799004,NA +GARD:0009569,Orphanet,31112,Exact +GARD:0009569,OMIM,607907,Exact +GARD:0009569,ICD-10,C49.9,NTBT +GARD:0009569,MedDRA,10057070,Exact +GARD:0009569,MeSH,C538219,Exact +GARD:0009569,UMLS,C0392784,Exact +GARD:0009571,Orphanet,422526,Exact +GARD:0009571,OMIM,144700,NTBT +GARD:0009571,SNOMED-CT,764961009,NA +GARD:0009571,ICD-10,C64,NTBT +GARD:0009572,Orphanet,319298,Exact +GARD:0009572,Orphanet,47044,BTNT +GARD:0009572,SNOMED-CT,733608000,NA +GARD:0009572,UMLS,C1306837,Exact +GARD:0009572,ICD-10,C64,NTBT +GARD:0009573,SNOMED-CT,733470002,NA +GARD:0009573,Orphanet,247203,Exact +GARD:0009573,ICD-10,C64,NTBT +GARD:0009573,UMLS,C1266044,Exact +GARD:0009573,MeSH,D002292,Exact +GARD:0009574,SNOMED-CT,254915003,NA +GARD:0009574,Orphanet,319276,Exact +GARD:0009574,ICD-10,C64,NTBT +GARD:0009574,UMLS,C0279702,Exact +GARD:0009578,Orphanet,243367,Exact +GARD:0009578,MedDRA,10000746,Exact +GARD:0009578,SNOMED-CT,716379000,NA +GARD:0009578,UMLS,C1455728,Exact +GARD:0009578,ICD-10,O26.6,NTBT +GARD:0009578,MeSH,C537957,Exact +GARD:0009581,Orphanet,100996,Exact +GARD:0009581,SNOMED-CT,764686003,NA +GARD:0009581,UMLS,C1849128,Exact +GARD:0009581,ICD-10,G11.4,NTBT +GARD:0009581,OMIM,270700,Exact +GARD:0009581,MeSH,C536642,Exact +GARD:0009582,SNOMED-CT,732933009,NA +GARD:0009582,Orphanet,101005,Exact +GARD:0009582,UMLS,C2936860,Exact +GARD:0009582,OMIM,608220,Exact +GARD:0009582,MeSH,C536861,Exact +GARD:0009582,ICD-10,G11.4,NTBT +GARD:0009583,Orphanet,447753,Exact +GARD:0009583,ICD-10,G11.4,NTBT +GARD:0009583,OMIM,601162,Exact +GARD:0009585,SNOMED-CT,783697000,NA +GARD:0009585,Orphanet,100997,Exact +GARD:0009585,ICD-10,G11.4,NTBT +GARD:0009585,MeSH,C536643,Exact +GARD:0009585,OMIM,300266,Exact +GARD:0009585,UMLS,C1846046,Exact +GARD:0009586,SNOMED-CT,763374004,NA +GARD:0009586,Orphanet,100993,Exact +GARD:0009586,UMLS,C1858106,Exact +GARD:0009586,ICD-10,G11.4,NTBT +GARD:0009586,MeSH,C537484,Exact +GARD:0009586,OMIM,604805,Exact +GARD:0009587,SNOMED-CT,726607007,NA +GARD:0009587,Orphanet,101006,Exact +GARD:0009587,UMLS,C1836632,Exact +GARD:0009587,OMIM,609195,Exact +GARD:0009587,ICD-10,G11.4,NTBT +GARD:0009587,MeSH,C536862,Exact +GARD:0009588,Orphanet,100999,Exact +GARD:0009588,ICD-10,G11.4,NTBT +GARD:0009588,MeSH,C536856,Exact +GARD:0009588,UMLS,C1846685,Exact +GARD:0009588,OMIM,607152,Exact +GARD:0009588,SNOMED-CT,763375003,NA +GARD:0009589,Orphanet,100995,Exact +GARD:0009589,OMIM,605229,Exact +GARD:0009589,ICD-10,G11.4,NTBT +GARD:0009589,UMLS,C1854568,Exact +GARD:0009589,MeSH,C537486,Exact +GARD:0009589,SNOMED-CT,783094006,NA +GARD:0009590,SNOMED-CT,732948003,NA +GARD:0009590,Orphanet,100991,Exact +GARD:0009590,ICD-10,G11.4,NTBT +GARD:0009590,MeSH,C537482,Exact +GARD:0009590,UMLS,C1858712,Exact +GARD:0009590,OMIM,604187,Exact +GARD:0009591,Orphanet,100989,Exact +GARD:0009591,OMIM,603563,Exact +GARD:0009591,MeSH,C536867,Exact +GARD:0009591,UMLS,C1863704,Exact +GARD:0009591,ICD-10,G11.4,NTBT +GARD:0009591,SNOMED-CT,785305006,NA +GARD:0009595,Orphanet,1195,Exact +GARD:0009595,UMLS,C1859593,Exact +GARD:0009595,ICD-10,E88.0,Exact +GARD:0009595,MeSH,C538259,Exact +GARD:0009595,UMLS,C0521802,Exact +GARD:0009595,OMIM,209300,Exact +GARD:0009595,SNOMED-CT,111571009,NA +GARD:0009598,OMIM,114100,Exact +GARD:0009598,UMLS,C1861967,NA +GARD:0009598,DiseaseOntology,60230,NA +GARD:0009602,Orphanet,97,Exact +GARD:0009602,SNOMED-CT,420932006,NA +GARD:0009602,ICD-10,G11.8,NTBT +GARD:0009602,OMIM,108500,Exact +GARD:0009602,UMLS,C1720416,Exact +GARD:0009611,Orphanet,98768,Exact +GARD:0009611,ICD-10,G11.2,NTBT +GARD:0009611,UMLS,C1854488,Exact +GARD:0009611,MeSH,C537195,Exact +GARD:0009611,OMIM,605259,Exact +GARD:0009611,SNOMED-CT,719209002,NA +GARD:0009615,Orphanet,397,Exact +GARD:0009615,UMLS,C1956391,Exact +GARD:0009615,ICD-10,M31.6,NTBT +GARD:0009615,MedDRA,10018250,Exact +GARD:0009615,ICD-11,4A44.2,Exact +GARD:0009615,OMIM,187360,Exact +GARD:0009615,MeSH,D013700,Exact +GARD:0009615,MedDRA,10043207,Exact +GARD:0009615,UMLS,C0039483,Exact +GARD:0009615,SNOMED-CT,400130008,NA +GARD:0009616,SNOMED-CT,783698005,NA +GARD:0009616,Orphanet,100994,Exact +GARD:0009616,MeSH,C537485,Exact +GARD:0009616,OMIM,605280,Exact +GARD:0009616,UMLS,C1854467,Exact +GARD:0009616,ICD-10,G11.4,NTBT +GARD:0009620,Orphanet,318,Exact +GARD:0009620,ICD-10,C94.0,NTBT +GARD:0009620,OMIM,133180,BTNT +GARD:0009620,ICD-11,2A60.35,Exact +GARD:0009620,UMLS,C0023440,Exact +GARD:0009620,SNOMED-CT,93451002,NA +GARD:0009621,Orphanet,180229,Exact +GARD:0009621,UMLS,C0334518,Exact +GARD:0009621,ICD-10,C80.9,NTBT +GARD:0009621,SNOMED-CT,1156404008,NA +GARD:0009626,OMIM,602482,Exact +GARD:0009626,Orphanet,782,NTBT +GARD:0009626,DiseaseOntology,110122,NA +GARD:0009626,UMLS,C2678503,NA +GARD:0009626,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome,NA +GARD:0009628,Orphanet,71517,Exact +GARD:0009628,OMIM,128235,Exact +GARD:0009628,UMLS,C1868681,Exact +GARD:0009628,ICD-10,G24.1,NTBT +GARD:0009628,SNOMED-CT,702323008,NA +GARD:0009630,SNOMED-CT,702448007,NA +GARD:0009630,Orphanet,98806,Exact +GARD:0009630,ICD-10,G24.1,NTBT +GARD:0009630,OMIM,602629,Exact +GARD:0009630,UMLS,C1414216,Exact +GARD:0009631,OMIM,602554,Exact +GARD:0009631,DiseaseOntology,90058,NA +GARD:0009631,GeneticAlliance,7139,NA +GARD:0009631,UMLS,C1865205,NA +GARD:0009632,Orphanet,77295,Exact +GARD:0009632,UMLS,C3502054,Exact +GARD:0009632,OMIM,607694,NTBT +GARD:0009632,ICD-10,E75.2,NTBT +GARD:0009632,SNOMED-CT,722064003,NA +GARD:0009633,OMIM,264420,Exact +GARD:0009633,Orphanet,59181,NTBT +GARD:0009633,UMLS,C1849694,NA +GARD:0009633,GeneticAlliance,6039,NA +GARD:0009634,SNOMED-CT,401138005,NA +GARD:0009634,Orphanet,994,Exact +GARD:0009634,OMIM,618975,ND (not yet decided/unable to decide) +GARD:0009634,ICD-10,Q87.8,NTBT +GARD:0009634,OMIM,618389,BTNT +GARD:0009634,OMIM,618388,BTNT +GARD:0009634,UMLS,C1276035,Exact +GARD:0009634,OMIM,208150,Exact +GARD:0009634,OMIM,618393,BTNT +GARD:0009634,OMIM,300073,BTNT +GARD:0009635,Orphanet,64745,Exact +GARD:0009635,MeSH,C535817,Exact +GARD:0009635,ICD-10,O26.8,NTBT +GARD:0009635,UMLS,C0269680,Exact +GARD:0009635,OMIM,178995,Exact +GARD:0009635,MedDRA,10066100,Exact +GARD:0009635,ICD-11,JA65.12,Exact +GARD:0009635,SNOMED-CT,88697005,NA +GARD:0009640,Orphanet,33110,Exact +GARD:0009640,OMIM,612692,BTNT +GARD:0009640,OMIM,613506,BTNT +GARD:0009640,ICD-10,D80.0,NTBT +GARD:0009640,UMLS,C1832241,Exact +GARD:0009640,OMIM,601495,Exact +GARD:0009640,OMIM,613500,BTNT +GARD:0009640,OMIM,613502,BTNT +GARD:0009640,OMIM,613501,BTNT +GARD:0009640,OMIM,616941,BTNT +GARD:0009640,OMIM,615214,BTNT +GARD:0009642,OMIM,600116,Exact +GARD:0009642,DiseaseOntology,60368,NA +GARD:0009642,GeneticAlliance,9086,NA +GARD:0009642,UMLS,C1868675,NA +GARD:0009643,SNOMED-CT,252246005,NA +GARD:0009643,Orphanet,758,Exact +GARD:0009643,ICD-10,Q82.8,NTBT +GARD:0009643,MeSH,D011561,Exact +GARD:0009643,OMIM,264800,Exact +GARD:0009643,OMIM,177850,BTNT +GARD:0009643,UMLS,C0033847,Exact +GARD:0009643,ICD-11,EC40,Exact +GARD:0009643,MedDRA,10037150,Exact +GARD:0009647,Orphanet,98957,Exact +GARD:0009647,UMLS,C0339273,Exact +GARD:0009647,MeSH,C535480,Exact +GARD:0009647,OMIM,204870,Exact +GARD:0009647,ICD-10,H18.5,NTBT +GARD:0009647,SNOMED-CT,419900000,NA +GARD:0009649,OMIM,216900,Exact +GARD:0009649,Orphanet,49382,NTBT +GARD:0009649,GeneticAlliance,116,NA +GARD:0009649,UMLS,C1857618,NA +GARD:0009649,DiseaseOntology,110007,NA +GARD:0009650,OMIM,262300,Exact +GARD:0009650,Orphanet,49382,NTBT +GARD:0009650,GeneticAlliance,117,NA +GARD:0009650,DiseaseOntology,110008,NA +GARD:0009650,UMLS,C1849792,NA +GARD:0009652,Orphanet,352540,Exact +GARD:0009652,UMLS,C1274103,Exact +GARD:0009652,ICD-10,M83.8,NTBT +GARD:0009652,SNOMED-CT,392559009,NA +GARD:0009654,Orphanet,330058,Exact +GARD:0009654,SNOMED-CT,200837006,NA +GARD:0009654,ICD-10,L56.4,NTBT +GARD:0009654,UMLS,C0020241,Exact +GARD:0009657,Orphanet,93347,Exact +GARD:0009657,UMLS,C1846796,Exact +GARD:0009657,SNOMED-CT,764460003,NA +GARD:0009657,OMIM,618853,Exact +GARD:0009657,OMIM,607095,Exact +GARD:0009657,ICD-10,Q77.7,NTBT +GARD:0009657,OMIM,617396,Exact +GARD:0009657,MeSH,C538256,Exact +GARD:0009659,Orphanet,93605,Exact +GARD:0009659,ICD-10,E26.8,NTBT +GARD:0009659,UMLS,C1846343,Exact +GARD:0009659,OMIM,607364,Exact +GARD:0009661,OMIM,604232,Exact +GARD:0009661,UMLS,C1858677,NA +GARD:0009661,DiseaseOntology,110331,NA +GARD:0009662,OMIM,604393,Exact +GARD:0009662,DiseaseOntology,110332,NA +GARD:0009662,UMLS,C1858386,NA +GARD:0009665,SNOMED-CT,254867003,NA +GARD:0009665,Orphanet,99914,Exact +GARD:0009665,ICD-10,D40.1,BTNT +GARD:0009665,ICD-10,D39.1,BTNT +GARD:0009665,UMLS,C0018413,Exact +GARD:0009670,SNOMED-CT,49762007,NA +GARD:0009670,Orphanet,329,Exact +GARD:0009670,ICD-11,3B13,Exact +GARD:0009670,OMIM,612416,Exact +GARD:0009670,ICD-10,D68.1,Exact +GARD:0009670,UMLS,C0015523,Exact +GARD:0009673,SNOMED-CT,703535000,NA +GARD:0009673,Orphanet,2152,Exact +GARD:0009673,ICD-10,Q43.1,NTBT +GARD:0009673,MeSH,C536990,Exact +GARD:0009673,OMIM,235730,Exact +GARD:0009673,UMLS,C1856113,Exact +GARD:0009675,Orphanet,2306,Exact +GARD:0009675,UMLS,C0432364,Exact +GARD:0009675,OMIM,243440,Exact +GARD:0009675,ICD-10,Q87.8,NTBT +GARD:0009675,SNOMED-CT,722006004,NA +GARD:0009676,Orphanet,45448,Exact +GARD:0009676,UMLS,C1850808,Exact +GARD:0009676,OMIM,254130,Exact +GARD:0009676,ICD-10,G71.0,NTBT +GARD:0009676,MeSH,C537480,Exact +GARD:0009676,OMIM,613318,BTNT +GARD:0009676,SNOMED-CT,58795000,NA +GARD:0009677,SNOMED-CT,419039007,NA +GARD:0009677,Orphanet,98962,Exact +GARD:0009677,ICD-10,H18.5,NTBT +GARD:0009677,UMLS,C1641846,Exact +GARD:0009677,OMIM,121900,Exact +GARD:0009678,SNOMED-CT,419197009,NA +GARD:0009678,Orphanet,98964,Exact +GARD:0009678,OMIM,122200,Exact +GARD:0009678,UMLS,C2931650,Exact +GARD:0009678,UMLS,C1690006,Exact +GARD:0009678,OMIM,608471,BTNT +GARD:0009678,ICD-10,H18.5,NTBT +GARD:0009678,MeSH,C537881,Exact +GARD:0009679,SNOMED-CT,777998000,NA +GARD:0009679,Orphanet,363417,Exact +GARD:0009679,UMLS,C1854466,Exact +GARD:0009679,OMIM,605282,Exact +GARD:0009679,ICD-10,Q87.2,NTBT +GARD:0009681,Orphanet,140976,Exact +GARD:0009681,MeSH,C537612,Exact +GARD:0009681,SNOMED-CT,723999009,NA +GARD:0009681,UMLS,C1865794,Exact +GARD:0009681,OMIM,602152,Exact +GARD:0009682,Orphanet,309803,Exact +GARD:0009682,ICD-10,Q77.3,NTBT +GARD:0009682,OMIM,600121,Exact +GARD:0009682,UMLS,C1838612,Exact +GARD:0009683,SNOMED-CT,702364003,NA +GARD:0009683,Orphanet,71,Exact +GARD:0009683,UMLS,C0795956,Exact +GARD:0009683,OMIM,246700,Exact +GARD:0009683,ICD-10,E78.6,NTBT +GARD:0009683,MeSH,C535460,Exact +GARD:0009684,SNOMED-CT,230314007,NA +GARD:0009684,Orphanet,71272,Exact +GARD:0009684,MedDRA,10066142,Exact +GARD:0009684,UMLS,C0338465,Exact +GARD:0009684,MeSH,C537234,Exact +GARD:0009684,ICD-10,G24.8,NTBT +GARD:0009687,SNOMED-CT,10087007,NA +GARD:0009687,Orphanet,1247,Exact +GARD:0009687,MedDRA,10039603,Exact +GARD:0009687,UMLS,C0036323,Exact +GARD:0009687,ICD-10,B65.8,BTNT +GARD:0009687,MeSH,D012552,Exact +GARD:0009687,ICD-10,B65.3,BTNT +GARD:0009687,OMIM,181460,BTNT +GARD:0009687,ICD-10,B65.2,BTNT +GARD:0009687,ICD-10,B65.9,BTNT +GARD:0009687,ICD-10,B65.0,BTNT +GARD:0009687,ICD-10,B65.1,BTNT +GARD:0009688,Orphanet,98954,Exact +GARD:0009688,ICD-10,H18.5,NTBT +GARD:0009688,OMIM,122100,Exact +GARD:0009688,MeSH,D053559,Exact +GARD:0009688,UMLS,C0339277,Exact +GARD:0009688,OMIM,618767,Exact +GARD:0009689,OMIM,254210,Exact +GARD:0009689,Orphanet,98914,NTBT +GARD:0009689,SNOMED-CT,230670003,NA +GARD:0009689,UMLS,C0393929,NA +GARD:0009689,GeneticAlliance,1858,NA +GARD:0009689,DiseaseOntology,110671,NA +GARD:0009690,Orphanet,97332,Exact +GARD:0009690,ICD-10,M93.1,BTNT +GARD:0009690,ICD-10,M92.2,BTNT +GARD:0009690,UMLS,C0022682,Exact +GARD:0009690,MedDRA,10064242,Exact +GARD:0009690,SNOMED-CT,787484007,NA +GARD:0009692,SNOMED-CT,205067002,NA +GARD:0009692,Orphanet,295036,Exact +GARD:0009692,UMLS,C0345360,Exact +GARD:0009692,ICD-10,Q74.1,NTBT +GARD:0009692,ICD-11,LB94,Exact +GARD:0009694,SNOMED-CT,53748002,NA +GARD:0009694,Orphanet,79403,Exact +GARD:0009694,UMLS,C1856934,Exact +GARD:0009694,ICD-10,Q81.8,NTBT +GARD:0009694,OMIM,226730,Exact +GARD:0009696,SNOMED-CT,723499000,NA +GARD:0009696,Orphanet,91481,Exact +GARD:0009696,MeSH,C535684,Exact +GARD:0009696,ICD-10,D31.1,NTBT +GARD:0009696,UMLS,C1867155,Exact +GARD:0009696,OMIM,180550,Exact +GARD:0009697,Orphanet,65684,Exact +GARD:0009697,UMLS,C1865384,Exact +GARD:0009697,MedDRA,10069681,Exact +GARD:0009697,ICD-11,8B60.6,Exact +GARD:0009697,OMIM,602440,Exact +GARD:0009697,MeSH,C538253,Exact +GARD:0009697,ICD-10,G12.8,NTBT +GARD:0009697,SNOMED-CT,230256009,NA +GARD:0009698,Orphanet,96167,Exact +GARD:0009698,ICD-10,Q99.8,NTBT +GARD:0009698,UMLS,C0795822,Exact +GARD:0009698,OMIM,179613,Exact +GARD:0009698,SNOMED-CT,718189004,NA +GARD:0009701,OMIM,182990,Exact +GARD:0009701,UMLS,C0344485,NA +GARD:0009701,SNOMED-CT,253164002,NA +GARD:0009703,OMIM,608681,Exact +GARD:0009703,Orphanet,2311,NTBT +GARD:0009703,GeneticAlliance,6803,NA +GARD:0009703,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/spondylothoracic-dysostosis,NA +GARD:0009703,DiseaseOntology,112362,NA +GARD:0009703,UMLS,C1837549,NA +GARD:0009704,Orphanet,85287,Exact +GARD:0009704,UMLS,C1846055,Exact +GARD:0009704,OMIM,300263,Exact +GARD:0009704,ICD-10,Q87.8,NTBT +GARD:0009704,MeSH,C537333,Exact +GARD:0009704,SNOMED-CT,718908009,NA +GARD:0009705,Orphanet,158668,Exact +GARD:0009705,ICD-10,Q81.0,NTBT +GARD:0009705,MeSH,C536183,Exact +GARD:0009705,OMIM,604536,Exact +GARD:0009705,SNOMED-CT,716699004,NA +GARD:0009705,UMLS,C1858302,Exact +GARD:0009706,Orphanet,91496,Exact +GARD:0009706,UMLS,C1860405,Exact +GARD:0009706,OMIM,193230,Exact +GARD:0009706,MeSH,C536677,Exact +GARD:0009706,ICD-10,H35.5,NTBT +GARD:0009707,Orphanet,211,Exact +GARD:0009707,UMLS,C1704217,Exact +GARD:0009707,MeSH,C536611,Exact +GARD:0009707,OMIM,132700,Exact +GARD:0009707,UMLS,C1851526,Exact +GARD:0009711,Orphanet,46059,Exact +GARD:0009711,MeSH,C537880,Exact +GARD:0009711,SNOMED-CT,719257008,NA +GARD:0009711,ICD-10,Q87.8,NTBT +GARD:0009711,UMLS,C1846421,Exact +GARD:0009711,OMIM,607330,Exact +GARD:0009715,Orphanet,79478,Exact +GARD:0009715,UMLS,C1836573,Exact +GARD:0009715,OMIM,609227,Exact +GARD:0009715,ICD-10,E70.3,NTBT +GARD:0009715,MeSH,C537303,Exact +GARD:0009723,Orphanet,1883,Exact +GARD:0009723,OMIM,224800,Exact +GARD:0009723,UMLS,C1857068,Exact +GARD:0009723,SNOMED-CT,732953008,NA +GARD:0009725,SNOMED-CT,424114000,NA +GARD:0009725,Orphanet,137617,Exact +GARD:0009725,UMLS,C3888044,Exact +GARD:0009725,UMLS,C1619692,Exact +GARD:0009725,MedDRA,10067467,Exact +GARD:0009726,OMIM,603622,Exact +GARD:0009726,UMLS,C1863659,NA +GARD:0009726,DiseaseOntology,110548,NA +GARD:0009726,GeneticAlliance,2149,NA +GARD:0009728,SNOMED-CT,715317001,NA +GARD:0009728,Orphanet,606,Exact +GARD:0009728,UMLS,C0752354,Exact +GARD:0009728,OMIM,602668,Exact +GARD:0009728,ICD-10,G71.1,NTBT +GARD:0009728,UMLS,C2931689,Exact +GARD:0009728,MeSH,D020967,Exact +GARD:0009729,Orphanet,101009,Exact +GARD:0009729,ICD-10,G11.4,NTBT +GARD:0009729,MeSH,C536863,Exact +GARD:0009729,SNOMED-CT,733029008,NA +GARD:0009729,UMLS,C1857855,Exact +GARD:0009729,OMIM,609727,Exact +GARD:0009730,Orphanet,34587,Exact +GARD:0009730,UMLS,C0878677,Exact +GARD:0009730,OMIM,300257,Exact +GARD:0009730,ICD-10,E74.0,NTBT +GARD:0009730,SNOMED-CT,419097006,NA +GARD:0009732,Orphanet,98956,Exact +GARD:0009732,OMIM,121820,Exact +GARD:0009732,SNOMED-CT,373426005,NA +GARD:0009732,UMLS,C0521723,Exact +GARD:0009732,ICD-10,H18.5,NTBT +GARD:0009733,OMIM,601277,Exact +GARD:0009733,DiseaseOntology,60712,NA +GARD:0009733,UMLS,C1832550,NA +GARD:0009733,GeneticAlliance,3723,NA +GARD:0009734,OMIM,604777,Exact +GARD:0009734,UMLS,C1858142,NA +GARD:0009734,GeneticAlliance,3724,NA +GARD:0009734,DiseaseOntology,60714,NA +GARD:0009734,UMLS,C1858133,NA +GARD:0009736,SNOMED-CT,267372009,NA +GARD:0009736,Orphanet,79394,Exact +GARD:0009736,OMIM,615022,BTNT +GARD:0009736,OMIM,615024,BTNT +GARD:0009736,OMIM,606545,BTNT +GARD:0009736,ICD-10,Q80.2,NTBT +GARD:0009736,OMIM,242100,BTNT +GARD:0009736,OMIM,615023,BTNT +GARD:0009736,OMIM,612281,BTNT +GARD:0009736,UMLS,C0079154,Exact +GARD:0009737,SNOMED-CT,254180002,NA +GARD:0009737,Orphanet,79397,Exact +GARD:0009737,ICD-10,Q81.0,NTBT +GARD:0009737,UMLS,C0432316,Exact +GARD:0009737,MeSH,C535959,Exact +GARD:0009737,OMIM,131960,Exact +GARD:0009740,Orphanet,334,Exact +GARD:0009740,OMIM,615378,BTNT +GARD:0009740,OMIM,615770,BTNT +GARD:0009740,OMIM,611493,BTNT +GARD:0009740,ICD-10,I48.9,NTBT +GARD:0009740,OMIM,614022,BTNT +GARD:0009740,OMIM,613980,BTNT +GARD:0009740,OMIM,611494,BTNT +GARD:0009740,OMIM,614050,BTNT +GARD:0009740,OMIM,608988,BTNT +GARD:0009740,OMIM,614049,BTNT +GARD:0009740,OMIM,613120,NTBT +GARD:0009740,OMIM,607554,BTNT +GARD:0009740,OMIM,611819,NTBT +GARD:0009740,OMIM,612240,BTNT +GARD:0009740,OMIM,613055,BTNT +GARD:0009740,OMIM,615377,BTNT +GARD:0009740,OMIM,617280,BTNT +GARD:0009740,OMIM,612201,BTNT +GARD:0009740,OMIM,608583,Exact +GARD:0009740,SNOMED-CT,715395008,NA +GARD:0009741,Orphanet,137754,Exact +GARD:0009741,OMIM,609924,Exact +GARD:0009741,UMLS,C1835922,Exact +GARD:0009741,ICD-10,E72.8,NTBT +GARD:0009741,SNOMED-CT,709282004,NA +GARD:0009742,Orphanet,78,Exact +GARD:0009742,ICD-10,B76.9,BTNT +GARD:0009742,MedDRA,10002255,Exact +GARD:0009742,ICD-10,B76.8,BTNT +GARD:0009742,ICD-10,B76.1,BTNT +GARD:0009742,UMLS,C0019911,Exact +GARD:0009742,UMLS,C0002831,Exact +GARD:0009742,MeSH,D000724,Exact +GARD:0009742,MedDRA,10020376,Exact +GARD:0009742,MeSH,D006725,Exact +GARD:0009742,ICD-10,B76.0,BTNT +GARD:0009742,SNOMED-CT,63479002,NA +GARD:0009744,SNOMED-CT,2736005,NA +GARD:0009744,Orphanet,79100,Exact +GARD:0009744,OMIM,209700,Exact +GARD:0009744,ICD-10,L66.4,NTBT +GARD:0009744,UMLS,C0263429,Exact +GARD:0009744,OMIM,604093,NTBT +GARD:0009748,Orphanet,90291,Exact +GARD:0009748,ICD-10,M34.1,BTNT +GARD:0009748,UMLS,C0036421,Exact +GARD:0009748,ICD-10,M34.8,BTNT +GARD:0009748,ICD-10,M34.0,BTNT +GARD:0009748,MedDRA,10042953,Exact +GARD:0009748,ICD-10,M34.2,BTNT +GARD:0009748,OMIM,181750,BTNT +GARD:0009748,ICD-10,M34.9,BTNT +GARD:0009749,SNOMED-CT,299276009,NA +GARD:0009749,Orphanet,220407,Exact +GARD:0009749,ICD-11,4A42.2,Exact +GARD:0009749,UMLS,C1290138,Exact +GARD:0009749,ICD-10,M34.0,NTBT +GARD:0009751,SNOMED-CT,128460000,NA +GARD:0009751,Orphanet,220393,Exact +GARD:0009751,ICD-10,M34.0,NTBT +GARD:0009755,Orphanet,411629,Exact +GARD:0009755,ICD-10,E72.0+,NTBT +GARD:0009755,OMIM,219800,NTBT +GARD:0009755,UMLS,C3537440,Exact +GARD:0009755,ICD-10,N16.3*,NTBT +GARD:0009756,Orphanet,411641,Exact +GARD:0009756,ICD-10,E72.0,NTBT +GARD:0009756,UMLS,C2931013,Exact +GARD:0009756,OMIM,219750,Exact +GARD:0009758,Orphanet,101049,Exact +GARD:0009758,UMLS,C2931427,Exact +GARD:0009758,ICD-10,E83.5,NTBT +GARD:0009758,UMLS,C1840347,Exact +GARD:0009758,MeSH,C537146,Exact +GARD:0009758,OMIM,145981,Exact +GARD:0009759,SNOMED-CT,763792009,NA +GARD:0009759,Orphanet,2387,Exact +GARD:0009759,ICD-10,Q84.4,NTBT +GARD:0009759,UMLS,C0544855,Exact +GARD:0009759,OMIM,151600,NTBT +GARD:0009759,MeSH,C535889,Exact +GARD:0009761,Orphanet,79144,Exact +GARD:0009761,OMIM,605779,Exact +GARD:0009761,ICD-10,Q84.6,NTBT +GARD:0009761,UMLS,C1853984,Exact +GARD:0009761,SNOMED-CT,403281007,NA +GARD:0009762,Orphanet,52022,Exact +GARD:0009762,OMIM,601224,Exact +GARD:0009762,UMLS,C1832588,Exact +GARD:0009762,MeSH,C538356,Exact +GARD:0009762,ICD-10,Q93.5,NTBT +GARD:0009762,SNOMED-CT,702346005,NA +GARD:0009766,Orphanet,83467,Exact +GARD:0009766,UMLS,C3854373,Exact +GARD:0009766,ICD-10,G60.8,NTBT +GARD:0009766,UMLS,C0751540,Exact +GARD:0009766,SNOMED-CT,763803004,NA +GARD:0009767,Orphanet,391673,Exact +GARD:0009767,UMLS,C0520459,Exact +GARD:0009767,ICD-11,KB88,Exact +GARD:0009767,SNOMED-CT,2707005,NA +GARD:0009767,ICD-10,P77,Exact +GARD:0009769,Orphanet,251656,Exact +GARD:0009769,MedDRA,10027744,Exact +GARD:0009769,UMLS,C0280793,Exact +GARD:0009769,ICD-10,C71.9,NTBT +GARD:0009769,SNOMED-CT,716647001,NA +GARD:0009775,Orphanet,79145,Exact +GARD:0009775,OMIM,615327,BTNT +GARD:0009775,MedDRA,10068651,Exact +GARD:0009775,OMIM,615696,BTNT +GARD:0009775,UMLS,C3714534,Exact +GARD:0009775,ICD-10,L81.8,NTBT +GARD:0009775,OMIM,615674,BTNT +GARD:0009775,OMIM,179850,Exact +GARD:0009778,Orphanet,71279,Exact +GARD:0009778,UMLS,C2931684,Exact +GARD:0009778,MeSH,C537980,Exact +GARD:0009778,ICD-10,G61.8,NTBT +GARD:0009778,SNOMED-CT,715624006,NA +GARD:0009781,Orphanet,1762,Exact +GARD:0009781,UMLS,C1846058,Exact +GARD:0009781,SNOMED-CT,719909009,NA +GARD:0009781,UMLS,C3714043,Exact +GARD:0009781,MeSH,C537723,Exact +GARD:0009781,OMIM,300815,BTNT +GARD:0009781,ICD-10,Q99.8,NTBT +GARD:0009781,OMIM,300260,BTNT +GARD:0009787,Orphanet,90307,Exact +GARD:0009787,OMIM,608354,Exact +GARD:0009787,UMLS,C0038505,Exact +GARD:0009787,OMIM,608355,Exact +GARD:0009787,ICD-10,Q87.2,NTBT +GARD:0009789,Orphanet,2415,Exact +GARD:0009789,ICD-11,LA90.1,Exact +GARD:0009789,UMLS,C0024221,Exact +GARD:0009789,ICD-10,D18.1,Exact +GARD:0009789,UMLS,C0398368,Exact +GARD:0009791,OMIM,600204,Exact +GARD:0009791,Orphanet,166002,NTBT +GARD:0009791,UMLS,C1838429,NA +GARD:0009791,DiseaseOntology,70298,NA +GARD:0009792,OMIM,600969,Exact +GARD:0009792,DiseaseOntology,70304,NA +GARD:0009792,UMLS,C1832998,NA +GARD:0009793,SNOMED-CT,715672007,NA +GARD:0009793,Orphanet,93307,Exact +GARD:0009793,ICD-10,Q77.3,NTBT +GARD:0009793,OMIM,226900,Exact +GARD:0009793,UMLS,C1847593,Exact +GARD:0009793,MeSH,C535504,Exact +GARD:0009794,SNOMED-CT,715674008,NA +GARD:0009794,Orphanet,93311,Exact +GARD:0009794,UMLS,C1846843,Exact +GARD:0009794,ICD-10,Q77.3,NTBT +GARD:0009794,MeSH,C535505,Exact +GARD:0009794,OMIM,607078,Exact +GARD:0009795,Orphanet,34217,Exact +GARD:0009795,OMIM,601214,Exact +GARD:0009795,ICD-10,Q87.8,NTBT +GARD:0009795,SNOMED-CT,715535009,NA +GARD:0009795,UMLS,C1832600,Exact +GARD:0009795,MeSH,C538346,Exact +GARD:0009796,Orphanet,275517,Exact +GARD:0009796,UMLS,C1846545,Exact +GARD:0009796,ICD-10,D47.9,NTBT +GARD:0009796,OMIM,607271,Exact +GARD:0009796,SNOMED-CT,722290008,NA +GARD:0009797,Orphanet,275523,Exact +GARD:0009797,OMIM,605233,Exact +GARD:0009797,UMLS,C2931071,Exact +GARD:0009797,ICD-10,D47.9,NTBT +GARD:0009797,SNOMED-CT,721093000,NA +GARD:0009798,Orphanet,137888,Exact +GARD:0009798,MeSH,C538270,Exact +GARD:0009798,ICD-10,Q75.8,NTBT +GARD:0009798,UMLS,C1865295,Exact +GARD:0009798,OMIM,614669,BTNT +GARD:0009798,OMIM,612798,BTNT +GARD:0009798,OMIM,615706,BTNT +GARD:0009798,OMIM,602483,BTNT +GARD:0009798,SNOMED-CT,702443003,NA +GARD:0009799,Orphanet,53296,Exact +GARD:0009799,OMIM,115250,Exact +GARD:0009799,ICD-10,L94.8,NTBT +GARD:0009799,UMLS,C0406817,Exact +GARD:0009799,SNOMED-CT,239139000,NA +GARD:0009802,Orphanet,79306,Exact +GARD:0009802,OMIM,211600,Exact +GARD:0009802,ICD-10,K76.8,NTBT +GARD:0009802,MeSH,C535933,Exact +GARD:0009803,Orphanet,480483,Exact +GARD:0009803,OMIM,615878,Exact +GARD:0009803,ICD-10,K76.8,NTBT +GARD:0009804,SNOMED-CT,235888006,NA +GARD:0009804,Orphanet,69665,Exact +GARD:0009804,ICD-10,O26.6,NTBT +GARD:0009804,OMIM,614972,BTNT +GARD:0009804,MeSH,C535932,Exact +GARD:0009804,OMIM,147480,BTNT +GARD:0009806,Orphanet,493342,Exact +GARD:0009806,OMIM,125630,Exact +GARD:0009808,Orphanet,251612,Exact +GARD:0009808,UMLS,C0334583,Exact +GARD:0009808,ICD-10,C71.9,NTBT +GARD:0009808,SNOMED-CT,763865009,NA +GARD:0009809,Orphanet,86880,Exact +GARD:0009809,MedDRA,10022703,Exact +GARD:0009809,ICD-11,2A90.7,Exact +GARD:0009809,UMLS,C0456889,Exact +GARD:0009809,MeSH,D058527,Exact +GARD:0009809,ICD-10,C86.2,Exact +GARD:0009809,SNOMED-CT,277654008,NA +GARD:0009810,SNOMED-CT,95243004,NA +GARD:0009810,Orphanet,156731,Exact +GARD:0009810,MeSH,C537999,Exact +GARD:0009810,UMLS,C0432209,Exact +GARD:0009810,ICD-10,Q77.7,NTBT +GARD:0009810,OMIM,224400,Exact +GARD:0009811,Orphanet,3044,Exact +GARD:0009811,ICD-10,Q87.8,NTBT +GARD:0009811,OMIM,249599,Exact +GARD:0009811,UMLS,C1855303,Exact +GARD:0009811,SNOMED-CT,722454003,NA +GARD:0009812,Orphanet,86872,Exact +GARD:0009812,SNOMED-CT,277545003,NA +GARD:0009812,ICD-11,2A90.1,Exact +GARD:0009812,ICD-10,C91.7,NTBT +GARD:0009812,MedDRA,10065862,Exact +GARD:0009812,MeSH,D054066,Exact +GARD:0009812,UMLS,C1955861,Exact +GARD:0009812,UMLS,C2930809,Exact +GARD:0009813,Orphanet,79301,Exact +GARD:0009813,OMIM,607765,Exact +GARD:0009813,ICD-10,K76.8,NTBT +GARD:0009813,SNOMED-CT,238033007,NA +GARD:0009813,UMLS,C1843116,Exact +GARD:0009813,MeSH,C535442,Exact +GARD:0009814,OMIM,609428,Exact +GARD:0009814,GeneticAlliance,7263,NA +GARD:0009814,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles,NA +GARD:0009814,DiseaseOntology,81021,NA +GARD:0009814,UMLS,C1836217,NA +GARD:0009817,Orphanet,98808,Exact +GARD:0009817,SNOMED-CT,715768000,NA +GARD:0009817,OMIM,128230,Exact +GARD:0009817,ICD-10,G24.1,NTBT +GARD:0009818,SNOMED-CT,721092005,NA +GARD:0009818,Orphanet,79107,Exact +GARD:0009818,OMIM,607371,Exact +GARD:0009818,ICD-10,Q87.8,NTBT +GARD:0009820,Orphanet,464343,Exact +GARD:0009820,ICD-10,D68.6,NTBT +GARD:0009821,Orphanet,63454,Exact +GARD:0009821,ICD-10,H35.5,NTBT +GARD:0009821,MeSH,C536309,Exact +GARD:0009821,UMLS,C1868569,Exact +GARD:0009826,SNOMED-CT,459063003,NA +GARD:0009826,Orphanet,79318,Exact +GARD:0009826,ICD-10,E77.8,NTBT +GARD:0009826,UMLS,C0349653,Exact +GARD:0009826,OMIM,212065,Exact +GARD:0009827,Orphanet,79321,Exact +GARD:0009827,UMLS,C1832736,Exact +GARD:0009827,OMIM,601110,Exact +GARD:0009827,ICD-10,E77.8,NTBT +GARD:0009827,SNOMED-CT,720976009,NA +GARD:0009828,SNOMED-CT,724142005,NA +GARD:0009828,Orphanet,79329,Exact +GARD:0009828,OMIM,212066,Exact +GARD:0009828,ICD-10,E77.8,NTBT +GARD:0009828,UMLS,C2931008,Exact +GARD:0009829,Orphanet,79320,Exact +GARD:0009829,OMIM,603147,Exact +GARD:0009829,UMLS,C2930997,Exact +GARD:0009829,ICD-10,E77.8,NTBT +GARD:0009829,SNOMED-CT,709412006,NA +GARD:0009830,Orphanet,79319,Exact +GARD:0009830,OMIM,602579,Exact +GARD:0009830,UMLS,C1865145,Exact +GARD:0009830,ICD-10,E77.8,NTBT +GARD:0009831,Orphanet,79322,Exact +GARD:0009831,ICD-10,E77.8,NTBT +GARD:0009831,UMLS,C1837396,Exact +GARD:0009831,OMIM,608799,Exact +GARD:0009831,SNOMED-CT,725078006,NA +GARD:0009832,Orphanet,79323,Exact +GARD:0009832,UMLS,C1836669,Exact +GARD:0009832,ICD-10,E77.8,NTBT +GARD:0009832,OMIM,609180,Exact +GARD:0009832,SNOMED-CT,724096007,NA +GARD:0009833,SNOMED-CT,711155008,NA +GARD:0009833,Orphanet,79324,Exact +GARD:0009833,OMIM,607143,Exact +GARD:0009833,UMLS,C2931001,Exact +GARD:0009833,ICD-10,E77.8,NTBT +GARD:0009834,Orphanet,79325,Exact +GARD:0009834,ICD-10,E77.8,NTBT +GARD:0009834,UMLS,C2931002,Exact +GARD:0009834,OMIM,608104,Exact +GARD:0009834,SNOMED-CT,720977000,NA +GARD:0009835,Orphanet,96170,Exact +GARD:0009835,UMLS,C1836929,Exact +GARD:0009835,MeSH,C535733,Exact +GARD:0009835,ICD-10,Q92.6,NTBT +GARD:0009835,OMIM,609029,Exact +GARD:0009835,SNOMED-CT,702417004,NA +GARD:0009836,Orphanet,79326,Exact +GARD:0009836,OMIM,607906,Exact +GARD:0009836,ICD-10,E77.8,NTBT +GARD:0009836,UMLS,C1842836,Exact +GARD:0009837,SNOMED-CT,725079003,NA +GARD:0009837,Orphanet,86309,Exact +GARD:0009837,UMLS,C2931004,Exact +GARD:0009837,ICD-10,E77.8,NTBT +GARD:0009837,OMIM,608093,Exact +GARD:0009838,Orphanet,79327,Exact +GARD:0009838,OMIM,608540,Exact +GARD:0009838,SNOMED-CT,720941007,NA +GARD:0009838,ICD-10,E77.8,NTBT +GARD:0009838,UMLS,C2931005,Exact +GARD:0009839,Orphanet,79328,Exact +GARD:0009839,OMIM,608776,Exact +GARD:0009839,UMLS,C2931006,Exact +GARD:0009839,OMIM,263210,BTNT +GARD:0009839,ICD-10,E77.8,NTBT +GARD:0009839,SNOMED-CT,720978005,NA +GARD:0009841,SNOMED-CT,725587007,NA +GARD:0009841,Orphanet,79332,Exact +GARD:0009841,UMLS,C2931009,Exact +GARD:0009841,OMIM,607091,Exact +GARD:0009841,ICD-10,E77.8,NTBT +GARD:0009842,Orphanet,79333,Exact +GARD:0009842,OMIM,608779,Exact +GARD:0009842,ICD-10,E77.8,NTBT +GARD:0009842,UMLS,C2931010,Exact +GARD:0009842,SNOMED-CT,717773005,NA +GARD:0009843,Orphanet,90042,Exact +GARD:0009843,OMIM,133100,Exact +GARD:0009843,ICD-10,D75.0,NTBT +GARD:0009843,UMLS,C0152264,Exact +GARD:0009844,Orphanet,2637,Exact +GARD:0009844,OMIM,210720,Exact +GARD:0009844,UMLS,C0432246,Exact +GARD:0009844,ICD-10,Q87.1,NTBT +GARD:0009846,Orphanet,168796,Exact +GARD:0009846,UMLS,C1857829,Exact +GARD:0009846,MeSH,C535852,Exact +GARD:0009846,OMIM,610140,Exact +GARD:0009846,ICD-10,Q87.2,NTBT +GARD:0009846,SNOMED-CT,721014007,NA +GARD:0009847,SNOMED-CT,721010003,NA +GARD:0009847,Orphanet,1350,Exact +GARD:0009847,ICD-10,Q87.2,NTBT +GARD:0009847,UMLS,C2931323,Exact +GARD:0009848,Orphanet,71278,Exact +GARD:0009848,ICD-10,E72.8,NTBT +GARD:0009848,OMIM,610015,Exact +GARD:0009848,SNOMED-CT,124704002,NA +GARD:0009849,Orphanet,66629,Exact +GARD:0009849,ICD-10,Q87.8,NTBT +GARD:0009849,OMIM,609460,Exact +GARD:0009849,SNOMED-CT,717822006,NA +GARD:0009849,MeSH,C537279,Exact +GARD:0009849,UMLS,C1836123,Exact +GARD:0009850,Orphanet,3164,Exact +GARD:0009850,UMLS,C1866958,Exact +GARD:0009850,ICD-10,Q79.2,NTBT +GARD:0009850,OMIM,182210,Exact +GARD:0009850,SNOMED-CT,716230005,NA +GARD:0009863,OMIM,186400,Exact +GARD:0009863,DiseaseOntology,14762,NA +GARD:0009863,UMLS,C1876184,NA +GARD:0009863,GeneticAlliance,6966,NA +GARD:0009866,Orphanet,93360,Exact +GARD:0009866,MeSH,C535784,Exact +GARD:0009866,OMIM,603546,Exact +GARD:0009866,ICD-10,Q77.7,NTBT +GARD:0009866,UMLS,C1863732,Exact +GARD:0009866,SNOMED-CT,766820007,NA +GARD:0009867,SNOMED-CT,719210007,NA +GARD:0009867,Orphanet,98763,Exact +GARD:0009867,OMIM,605361,Exact +GARD:0009867,MeSH,C537196,Exact +GARD:0009867,UMLS,C1854369,Exact +GARD:0009867,ICD-10,G11.2,NTBT +GARD:0009870,SNOMED-CT,721236002,NA +GARD:0009870,Orphanet,71212,Exact +GARD:0009870,UMLS,C1291230,Exact +GARD:0009870,OMIM,231530,Exact +GARD:0009870,ICD-10,E71.3,NTBT +GARD:0009870,OMIM,609975,Exact +GARD:0009873,SNOMED-CT,253166000,NA +GARD:0009873,Orphanet,2789,Exact +GARD:0009873,UMLS,C1851710,Exact +GARD:0009873,UMLS,C0344487,Exact +GARD:0009873,ICD-10,Q87.5,NTBT +GARD:0009873,OMIM,130720,Exact +GARD:0009874,OMIM,608030,Exact +GARD:0009874,DiseaseOntology,60198,NA +GARD:0009874,GeneticAlliance,408,NA +GARD:0009874,UMLS,C1842675,NA +GARD:0009876,OMIM,132900,Exact +GARD:0009876,UMLS,C1851504,NA +GARD:0009876,DiseaseOntology,14004,NA +GARD:0009876,GeneticAlliance,532,NA +GARD:0009879,Orphanet,2639,Exact +GARD:0009879,OMIM,228900,Exact +GARD:0009879,ICD-10,Q73.8,NTBT +GARD:0009879,UMLS,C1856738,Exact +GARD:0009879,SNOMED-CT,715474004,NA +GARD:0009882,SNOMED-CT,783696009,NA +GARD:0009882,Orphanet,168588,Exact +GARD:0009882,OMIM,604931,BTNT +GARD:0009882,UMLS,C1291245,Exact +GARD:0009882,ICD-10,E25.8,NTBT +GARD:0009882,OMIM,614662,BTNT +GARD:0009884,Orphanet,86834,Exact +GARD:0009884,ICD-11,2A42,Exact +GARD:0009884,MedDRA,10023249,Exact +GARD:0009884,ICD-10,C93.3,Exact +GARD:0009884,OMIM,607785,Exact +GARD:0009884,UMLS,C0349639,Exact +GARD:0009884,MeSH,D054429,Exact +GARD:0009884,SNOMED-CT,445227008,NA +GARD:0009885,OMIM,609942,Exact +GARD:0009885,DiseaseOntology,60581,NA +GARD:0009885,GeneticAlliance,5262,NA +GARD:0009885,UMLS,C1860991,NA +GARD:0009886,SNOMED-CT,763401009,NA +GARD:0009886,Orphanet,88621,Exact +GARD:0009886,UMLS,C1837610,Exact +GARD:0009886,MeSH,C536271,Exact +GARD:0009886,OMIM,608649,Exact +GARD:0009887,Orphanet,251287,Exact +GARD:0009887,UMLS,C1828210,Exact +GARD:0009887,OMIM,153870,Exact +GARD:0009887,ICD-10,H35.5,NTBT +GARD:0009887,SNOMED-CT,719520001,NA +GARD:0009888,Orphanet,79246,Exact +GARD:0009888,MeSH,C536258,Exact +GARD:0009888,OMIM,608782,Exact +GARD:0009888,ICD-10,E74.4,NTBT +GARD:0009888,UMLS,C1837429,Exact +GARD:0009890,Orphanet,98673,Exact +GARD:0009890,OMIM,618977,BTNT +GARD:0009890,ICD-10,H47.2,NTBT +GARD:0009890,OMIM,605293,BTNT +GARD:0009890,OMIM,165500,BTNT +GARD:0009890,OMIM,610708,BTNT +GARD:0009890,SNOMED-CT,717336005,NA +GARD:0009892,OMIM,610019,Exact +GARD:0009892,DiseaseOntology,110238,NA +GARD:0009892,UMLS,C1864908,NA +GARD:0009892,GeneticAlliance,1153,NA +GARD:0009895,OMIM,616313,Exact +GARD:0009895,Orphanet,98913,NTBT +GARD:0009895,UMLS,C4225374,NA +GARD:0009895,DiseaseOntology,110681,NA +GARD:0009898,SNOMED-CT,724065003,NA +GARD:0009898,Orphanet,88628,Exact +GARD:0009898,UMLS,C1836916,Exact +GARD:0009898,ICD-10,G11.1,NTBT +GARD:0009898,MeSH,C536343,Exact +GARD:0009898,OMIM,609033,Exact +GARD:0009900,SNOMED-CT,45142002,NA +GARD:0009900,Orphanet,2414,Exact +GARD:0009900,UMLS,C0265800,Exact +GARD:0009900,OMIM,265300,Exact +GARD:0009900,UMLS,C1849554,Exact +GARD:0009900,ICD-10,Q33.8,NTBT +GARD:0009900,MeSH,C537727,Exact +GARD:0009901,OMIM,600376,Exact +GARD:0009901,Orphanet,774,NTBT +GARD:0009901,GeneticAlliance,3358,NA +GARD:0009901,UMLS,C1838163,NA +GARD:0009901,DiseaseOntology,1270,NA +GARD:0009902,OMIM,601101,Exact +GARD:0009902,Orphanet,774,NTBT +GARD:0009902,GeneticAlliance,3359,NA +GARD:0009902,UMLS,C1832774,NA +GARD:0009902,DiseaseOntology,1270,NA +GARD:0009903,Orphanet,93338,Exact +GARD:0009903,UMLS,C0265553,Exact +GARD:0009903,ICD-11,LB78.1,Exact +GARD:0009903,MedDRA,10063143,Exact +GARD:0009903,OMIM,174700,Exact +GARD:0009903,ICD-10,Q70.4,Exact +GARD:0009903,UMLS,C1868111,Exact +GARD:0009904,Orphanet,75325,Exact +GARD:0009904,MeSH,C536064,Exact +GARD:0009904,OMIM,609993,Exact +GARD:0009904,UMLS,C1864942,Exact +GARD:0009904,SNOMED-CT,722114007,NA +GARD:0009905,Orphanet,144,Exact +GARD:0009905,OMIM,614385,BTNT +GARD:0009905,OMIM,614331,BTNT +GARD:0009905,OMIM,613244,BTNT +GARD:0009905,OMIM,609310,BTNT +GARD:0009905,UMLS,C1112155,Exact +GARD:0009905,MedDRA,10051981,Exact +GARD:0009905,OMIM,120435,Exact +GARD:0009905,OMIM,614350,BTNT +GARD:0009905,ICD-10,D48.9,NTBT +GARD:0009905,MeSH,D003123,Exact +GARD:0009905,UMLS,C1333990,Exact +GARD:0009905,OMIM,614337,BTNT +GARD:0009905,SNOMED-CT,716318002,NA +GARD:0009907,Orphanet,221,NTBT +GARD:0009909,OMIM,601680,Exact +GARD:0009909,DiseaseOntology,111600,NA +GARD:0009909,UMLS,C5193014,NA +GARD:0009909,SNOMED-CT,715216008,NA +GARD:0009909,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/sheldon-hall-syndrome,NA +GARD:0009909,UMLS,C1834523,NA +GARD:0009910,Orphanet,158687,Exact +GARD:0009910,UMLS,C1864826,Exact +GARD:0009910,ICD-10,Q81.0,NTBT +GARD:0009910,MeSH,C535493,Exact +GARD:0009910,OMIM,609638,Exact +GARD:0009911,OMIM,609955,Exact +GARD:0009911,UMLS,C1864960,NA +GARD:0009911,DiseaseOntology,60466,NA +GARD:0009911,GeneticAlliance,3059,NA +GARD:0009912,SNOMED-CT,230418006,NA +GARD:0009912,Orphanet,2382,Exact +GARD:0009912,MeSH,C535500,Exact +GARD:0009912,OMIM,618141,BTNT +GARD:0009912,MedDRA,10048816,Exact +GARD:0009912,OMIM,617113,BTNT +GARD:0009912,OMIM,616346,BTNT +GARD:0009912,ICD-11,8A62.1,Exact +GARD:0009912,UMLS,C0238111,Exact +GARD:0009912,ICD-10,G40.4,NTBT +GARD:0009912,OMIM,615369,BTNT +GARD:0009914,OMIM,601894,Exact +GARD:0009914,Orphanet,84090,NTBT +GARD:0009914,SNOMED-CT,818952002,NA +GARD:0009914,UMLS,C1866075,NA +GARD:0009914,SNOMED-CT,722759007,NA +GARD:0009914,UMLS,C3888104,NA +GARD:0009914,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/fibronectin-glomerulopathy,NA +GARD:0009914,GeneticAlliance,3084,NA +GARD:0009916,OMIM,610017,Exact +GARD:0009916,DiseaseOntology,50794,NA +GARD:0009916,GeneticAlliance,4974,NA +GARD:0009916,UMLS,C1832708,NA +GARD:0009918,OMIM,609941,Exact +GARD:0009918,DiseaseOntology,110508,NA +GARD:0009918,UMLS,C1864968,NA +GARD:0009918,GeneticAlliance,2155,NA +GARD:0009919,OMIM,609952,Exact +GARD:0009919,UMLS,C1864962,NA +GARD:0009919,GeneticAlliance,2156,NA +GARD:0009919,DiseaseOntology,110510,NA +GARD:0009920,SNOMED-CT,718214007,NA +GARD:0009920,Orphanet,298,Exact +GARD:0009920,ICD-10,G71.3,NTBT +GARD:0009920,OMIM,613662,NTBT +GARD:0009920,UMLS,C0872218,Exact +GARD:0009920,OMIM,603041,NTBT +GARD:0009920,OMIM,612075,NTBT +GARD:0009921,Orphanet,2770,Exact +GARD:0009921,ICD-10,E75.2,NTBT +GARD:0009921,OMIM,221770,Exact +GARD:0009921,MeSH,C536329,Exact +GARD:0009921,OMIM,618193,Exact +GARD:0009921,UMLS,C1857316,Exact +GARD:0009921,SNOMED-CT,702347001,NA +GARD:0009922,OMIM,603553,Exact +GARD:0009922,DiseaseOntology,110922,NA +GARD:0009922,GeneticAlliance,3307,NA +GARD:0009922,UMLS,C1863727,NA +GARD:0009928,OMIM,608898,Exact +GARD:0009928,UMLS,C1837174,NA +GARD:0009928,DiseaseOntology,110923,NA +GARD:0009928,GeneticAlliance,3308,NA +GARD:0009929,OMIM,603552,Exact +GARD:0009929,UMLS,C1863728,NA +GARD:0009929,GeneticAlliance,3309,NA +GARD:0009929,DiseaseOntology,110924,NA +GARD:0009931,Orphanet,35878,Exact +GARD:0009931,OMIM,606762,Exact +GARD:0009931,ICD-10,E72.8,NTBT +GARD:0009931,SNOMED-CT,718106009,NA +GARD:0009932,SNOMED-CT,715830008,NA +GARD:0009932,Orphanet,165991,Exact +GARD:0009932,UMLS,C1864902,Exact +GARD:0009932,OMIM,610021,Exact +GARD:0009932,ICD-10,E16.1,NTBT +GARD:0009933,OMIM,601544,Exact +GARD:0009933,DiseaseOntology,110564,NA +GARD:0009933,UMLS,C2675750,NA +GARD:0009933,GeneticAlliance,8144,NA +GARD:0009934,OMIM,609965,Exact +GARD:0009934,GeneticAlliance,2154,NA +GARD:0009934,DiseaseOntology,110579,NA +GARD:0009934,UMLS,C1864957,NA +GARD:0009935,OMIM,609946,Exact +GARD:0009935,DiseaseOntology,110504,NA +GARD:0009935,UMLS,C1864964,NA +GARD:0009935,GeneticAlliance,2159,NA +GARD:0009936,SNOMED-CT,703525006,NA +GARD:0009936,Orphanet,98813,Exact +GARD:0009936,ICD-10,D82.8,NTBT +GARD:0009936,OMIM,612132,BTNT +GARD:0009936,OMIM,300291,Exact +GARD:0009936,UMLS,C1846006,Exact +GARD:0009937,OMIM,608908,Exact +GARD:0009937,DiseaseOntology,11830,NA +GARD:0009937,GeneticAlliance,5063,NA +GARD:0009937,UMLS,C1837148,NA +GARD:0009940,Orphanet,66631,Exact +GARD:0009940,OMIM,609528,Exact +GARD:0009940,ICD-10,Q82.8,NTBT +GARD:0009940,UMLS,C1836033,Exact +GARD:0009940,SNOMED-CT,722385008,NA +GARD:0009941,Orphanet,269,Exact +GARD:0009941,ICD-10,G71.0,NTBT +GARD:0009941,OMIM,600416,BTNT +GARD:0009941,MedDRA,10064087,Exact +GARD:0009941,ICD-11,8C70.3,Exact +GARD:0009941,OMIM,158901,BTNT +GARD:0009941,OMIM,158900,BTNT +GARD:0009941,UMLS,C0238288,Exact +GARD:0009941,SNOMED-CT,399091004,NA +GARD:0009943,OMIM,301200,Exact +GARD:0009943,DiseaseOntology,110058,NA +GARD:0009943,UMLS,C1845052,NA +GARD:0009943,GeneticAlliance,7680,NA +GARD:0009943,UMLS,C1845053,NA +GARD:0009944,OMIM,301201,Exact +GARD:0009944,UMLS,C1845051,NA +GARD:0009944,DiseaseOntology,110059,NA +GARD:0009944,GeneticAlliance,369,NA +GARD:0009947,Orphanet,137831,Exact +GARD:0009947,UMLS,C1845366,Exact +GARD:0009947,OMIM,300486,Exact +GARD:0009947,ICD-10,Q04.3,NTBT +GARD:0009947,SNOMED-CT,719136005,NA +GARD:0009950,Orphanet,101108,Exact +GARD:0009950,SNOMED-CT,718772002,NA +GARD:0009950,UMLS,C1853250,Exact +GARD:0009950,OMIM,610245,Exact +GARD:0009950,MeSH,C537201,Exact +GARD:0009950,ICD-10,G11.2,NTBT +GARD:0009951,SNOMED-CT,715824008,NA +GARD:0009951,Orphanet,101109,Exact +GARD:0009951,MeSH,C537205,Exact +GARD:0009951,OMIM,610246,Exact +GARD:0009951,ICD-10,G11.1,NTBT +GARD:0009951,UMLS,C1853249,Exact +GARD:0009952,Orphanet,83461,Exact +GARD:0009952,UMLS,C1853230,Exact +GARD:0009952,ICD-10,Q12.3,Exact +GARD:0009952,MeSH,C537786,Exact +GARD:0009952,OMIM,610256,Exact +GARD:0009952,MedDRA,10002947,Exact +GARD:0009952,ICD-11,LA12.2,Exact +GARD:0009952,SNOMED-CT,35387008,NA +GARD:0009953,SNOMED-CT,443936004,NA +GARD:0009953,Orphanet,251627,Exact +GARD:0009953,UMLS,C0028945,Exact +GARD:0009953,ICD-10,C71.9,NTBT +GARD:0009953,MedDRA,10030286,Exact +GARD:0009953,OMIM,137800,NTBT +GARD:0009953,OMIM,616568,NTBT +GARD:0009959,Orphanet,83476,Exact +GARD:0009959,OMIM,610379,BTNT +GARD:0009959,UMLS,C0751583,Exact +GARD:0009959,ICD-10,A92.3,NTBT +GARD:0009959,UMLS,C0043124,Exact +GARD:0009959,SNOMED-CT,392662004,NA +GARD:0009963,Orphanet,98764,Exact +GARD:0009963,MeSH,C537204,Exact +GARD:0009963,UMLS,C1836383,Exact +GARD:0009963,OMIM,609307,Exact +GARD:0009963,ICD-10,G11.8,NTBT +GARD:0009963,SNOMED-CT,719252002,NA +GARD:0009964,Orphanet,97234,Exact +GARD:0009964,UMLS,C0268149,Exact +GARD:0009964,ICD-10,E74.0,NTBT +GARD:0009964,OMIM,261670,Exact +GARD:0009964,SNOMED-CT,61772003,NA +GARD:0009965,SNOMED-CT,724344004,NA +GARD:0009965,Orphanet,83639,Exact +GARD:0009965,ICD-10,E88.8,NTBT +GARD:0009965,UMLS,C1853205,Exact +GARD:0009965,OMIM,610293,Exact +GARD:0009966,OMIM,604356,Exact +GARD:0009966,Orphanet,233,NTBT +GARD:0009966,GeneticAlliance,2335,NA +GARD:0009966,DiseaseOntology,12557,NA +GARD:0009966,UMLS,C0751083,NA +GARD:0009966,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/isolated-duane-retraction-syndrome,NA +GARD:0009970,Orphanet,98765,Exact +GARD:0009970,OMIM,600223,Exact +GARD:0009970,UMLS,C0752122,Exact +GARD:0009970,SNOMED-CT,715755008,NA +GARD:0009970,ICD-10,G11.2,NTBT +GARD:0009971,Orphanet,95433,Exact +GARD:0009971,ICD-10,G11.1,NTBT +GARD:0009971,OMIM,271250,Exact +GARD:0009971,UMLS,C1849094,Exact +GARD:0009975,SNOMED-CT,715826005,NA +GARD:0009975,Orphanet,217012,Exact +GARD:0009975,UMLS,C1861736,Exact +GARD:0009975,ICD-10,G11.8,NTBT +GARD:0009975,OMIM,117210,Exact +GARD:0009976,SNOMED-CT,719250005,NA +GARD:0009976,Orphanet,98771,Exact +GARD:0009976,OMIM,607458,Exact +GARD:0009976,MeSH,C537197,Exact +GARD:0009976,ICD-10,G11.8,NTBT +GARD:0009976,UMLS,C1843884,Exact +GARD:0009977,SNOMED-CT,726031001,NA +GARD:0009977,Orphanet,83472,Exact +GARD:0009977,UMLS,C1847114,Exact +GARD:0009977,ICD-10,G11.1,NTBT +GARD:0009977,OMIM,606937,Exact +GARD:0009980,SNOMED-CT,719818007,NA +GARD:0009980,Orphanet,85292,Exact +GARD:0009980,MeSH,C537316,Exact +GARD:0009980,ICD-10,G11.1,NTBT +GARD:0009980,UMLS,C1844933,Exact +GARD:0009980,OMIM,301840,Exact +GARD:0009981,SNOMED-CT,719817002,NA +GARD:0009981,Orphanet,85297,Exact +GARD:0009981,OMIM,301790,Exact +GARD:0009981,MeSH,C537315,Exact +GARD:0009981,ICD-10,G11.1,NTBT +GARD:0009981,UMLS,C1844936,Exact +GARD:0009983,OMIM,604537,Exact +GARD:0009983,DiseaseOntology,110215,NA +GARD:0009983,UMLS,C1858301,NA +GARD:0009984,Orphanet,85283,Exact +GARD:0009984,MeSH,C537472,Exact +GARD:0009984,ICD-10,Q87.8,NTBT +GARD:0009984,OMIM,314580,Exact +GARD:0009984,UMLS,C1839735,Exact +GARD:0009984,SNOMED-CT,719012009,NA +GARD:0009987,Orphanet,275,Exact +GARD:0009987,UMLS,C1865372,Exact +GARD:0009987,OMIM,602450,NTBT +GARD:0009987,ICD-10,D81.1,NTBT +GARD:0009987,SNOMED-CT,715982006,NA +GARD:0009989,Orphanet,90154,Exact +GARD:0009989,UMLS,C1837756,Exact +GARD:0009989,ICD-10,Q87.5,NTBT +GARD:0009989,OMIM,608612,Exact +GARD:0009989,MeSH,C535706,Exact +GARD:0009991,Orphanet,75496,Exact +GARD:0009991,ICD-10,Q79.6,NTBT +GARD:0009991,OMIM,130070,ND (not yet decided/unable to decide) +GARD:0009991,UMLS,C1869122,Exact +GARD:0009991,OMIM,615349,BTNT +GARD:0009991,MeSH,C536201,Exact +GARD:0009991,SNOMED-CT,720861000,NA +GARD:0009993,Orphanet,97229,Exact +GARD:0009993,OMIM,211530,BTNT +GARD:0009993,OMIM,614707,BTNT +GARD:0009993,OMIM,211500,Exact +GARD:0009993,UMLS,C0796274,Exact +GARD:0009993,ICD-10,G12.1,NTBT +GARD:0009993,SNOMED-CT,699866005,NA +GARD:0009993,MeSH,C537111,Exact +GARD:0009994,Orphanet,600731,Exact +GARD:0009994,OMIM,617752,NTBT +GARD:0009994,UMLS,C2931130,Exact +GARD:0009994,ICD-10,Q87.8,NTBT +GARD:0009995,Orphanet,101112,Exact +GARD:0009995,UMLS,C1836395,Exact +GARD:0009995,OMIM,609306,Exact +GARD:0009995,MeSH,C537203,Exact +GARD:0009995,ICD-10,G11.2,NTBT +GARD:0009995,SNOMED-CT,718769009,NA +GARD:0009996,Orphanet,101111,Exact +GARD:0009996,ICD-10,G11.8,NTBT +GARD:0009996,UMLS,C1837518,Exact +GARD:0009996,SNOMED-CT,718770005,NA +GARD:0009996,OMIM,608703,Exact +GARD:0009996,MeSH,C537202,Exact +GARD:0009997,Orphanet,101110,Exact +GARD:0009997,ICD-10,G11.2,NTBT +GARD:0009997,MeSH,C537199,Exact +GARD:0009997,UMLS,C1837541,Exact +GARD:0009997,OMIM,608687,Exact +GARD:0009997,SNOMED-CT,718771009,NA +GARD:0009998,Orphanet,70595,Exact +GARD:0009998,MeSH,C537583,Exact +GARD:0009998,UMLS,C1843851,Exact +GARD:0009998,ICD-10,G71.3,NTBT +GARD:0009998,OMIM,607459,Exact +GARD:0009998,SNOMED-CT,717266001,NA +GARD:0009999,SNOMED-CT,718774001,NA +GARD:0009999,Orphanet,98773,Exact +GARD:0009999,ICD-10,G11.1,NTBT +GARD:0009999,UMLS,C1843891,Exact +GARD:0009999,OMIM,607454,Exact +GARD:0009999,MeSH,C537200,Exact +GARD:0010000,SNOMED-CT,765091006,NA +GARD:0010000,Orphanet,94124,Exact +GARD:0010000,UMLS,C1846574,Exact +GARD:0010000,ICD-10,G60.2,NTBT +GARD:0010000,OMIM,607250,Exact +GARD:0010001,Orphanet,53689,Exact +GARD:0010001,SNOMED-CT,24412005,NA +GARD:0010001,ICD-10,P78.3,NTBT +GARD:0010001,MeSH,C536210,Exact +GARD:0010001,OMIM,214700,Exact +GARD:0010001,UMLS,C0267662,Exact +GARD:0010005,Orphanet,871,Exact +GARD:0010005,UMLS,C1879286,Exact +GARD:0010005,OMIM,612838,NTBT +GARD:0010005,OMIM,604559,BTNT +GARD:0010005,OMIM,140400,BTNT +GARD:0010005,OMIM,113900,Exact +GARD:0010005,SNOMED-CT,283645003,NA +GARD:0010005,ICD-10,I45.8,NTBT +GARD:0010005,OMIM,115080,NTBT +GARD:0010007,OMIM,300310,Exact +GARD:0010007,UMLS,C1845903,NA +GARD:0010007,DiseaseOntology,111999,NA +GARD:0010009,Orphanet,1183,Exact +GARD:0010009,MeSH,D053578,Exact +GARD:0010009,UMLS,C1721017,Exact +GARD:0010009,UMLS,C0393626,Exact +GARD:0010009,UMLS,C1096154,Exact +GARD:0010009,ICD-10,G25.3,NTBT +GARD:0010009,MedDRA,10053854,Exact +GARD:0010009,SNOMED-CT,230350000,NA +GARD:0010010,SNOMED-CT,723553000,NA +GARD:0010010,Orphanet,79411,Exact +GARD:0010010,MeSH,C536979,Exact +GARD:0010010,OMIM,131705,Exact +GARD:0010010,UMLS,C1851573,Exact +GARD:0010010,ICD-10,Q81.2,NTBT +GARD:0010011,Orphanet,83617,Exact +GARD:0010011,ICD-10,Q87.0,NTBT +GARD:0010011,OMIM,610483,Exact +GARD:0010011,SNOMED-CT,722281001,NA +GARD:0010012,Orphanet,85164,Exact +GARD:0010012,UMLS,C1864852,Exact +GARD:0010012,SNOMED-CT,720601000,NA +GARD:0010012,ICD-10,Q87.2,NTBT +GARD:0010012,OMIM,610474,Exact +GARD:0010014,Orphanet,97352,Exact +GARD:0010014,ICD-11,5B5C.0,Exact +GARD:0010014,UMLS,C0030783,Exact +GARD:0010014,MeSH,D010383,Exact +GARD:0010014,ICD-10,E52,Exact +GARD:0010014,MedDRA,10029400,Exact +GARD:0010014,SNOMED-CT,418186002,NA +GARD:0010018,Orphanet,98974,Exact +GARD:0010018,OMIM,613268,BTNT +GARD:0010018,OMIM,613271,BTNT +GARD:0010018,OMIM,613267,BTNT +GARD:0010018,OMIM,615523,BTNT +GARD:0010018,OMIM,613269,BTNT +GARD:0010018,OMIM,610158,BTNT +GARD:0010018,OMIM,136800,BTNT +GARD:0010018,UMLS,C0016781,Exact +GARD:0010018,OMIM,613270,BTNT +GARD:0010018,ICD-10,H18.5,NTBT +GARD:0010018,SNOMED-CT,193839007,NA +GARD:0010023,OMIM,609220,Exact +GARD:0010023,DiseaseOntology,60231,NA +GARD:0010023,GeneticAlliance,981,NA +GARD:0010023,UMLS,C1836602,NA +GARD:0010024,OMIM,277720,Exact +GARD:0010024,DiseaseOntology,111606,NA +GARD:0010024,UMLS,C1848470,NA +GARD:0010024,GeneticAlliance,7484,NA +GARD:0010025,Orphanet,88632,Exact +GARD:0010025,OMIM,617315,BTNT +GARD:0010025,OMIM,107250,Exact +GARD:0010025,OMIM,617319,BTNT +GARD:0010027,Orphanet,140,Exact +GARD:0010027,MeSH,D055036,Exact +GARD:0010027,OMIM,114290,Exact +GARD:0010027,OMIM,602196,BTNT +GARD:0010027,OMIM,211990,BTNT +GARD:0010027,ICD-10,Q87.1,NTBT +GARD:0010027,UMLS,C1861922,Exact +GARD:0010027,SNOMED-CT,74928006,NA +GARD:0010028,Orphanet,99960,Exact +GARD:0010028,ICD-10,K83.1,NTBT +GARD:0010028,UMLS,C1855731,Exact +GARD:0010028,OMIM,243300,Exact +GARD:0010028,MeSH,C535930,Exact +GARD:0010029,Orphanet,99961,Exact +GARD:0010029,OMIM,605479,Exact +GARD:0010029,MeSH,C535931,Exact +GARD:0010029,ICD-10,K83.1,NTBT +GARD:0010029,UMLS,C3489789,Exact +GARD:0010029,UMLS,C2608083,Exact +GARD:0010033,OMIM,608542,Exact +GARD:0010033,DiseaseOntology,80965,NA +GARD:0010033,UMLS,C1837894,NA +GARD:0010033,GeneticAlliance,449,NA +GARD:0010034,Orphanet,231013,Exact +GARD:0010034,ICD-10,G50.8,NTBT +GARD:0010034,OMIM,122450,Exact +GARD:0010034,SNOMED-CT,763218005,NA +GARD:0010037,Orphanet,85110,Exact +GARD:0010037,OMIM,604218,Exact +GARD:0010037,ICD-10,G31.8,NTBT +GARD:0010037,UMLS,C1858680,Exact +GARD:0010037,MeSH,C536841,Exact +GARD:0010037,SNOMED-CT,702421006,NA +GARD:0010039,Orphanet,79155,Exact +GARD:0010039,ICD-10,E70.8,NTBT +GARD:0010039,OMIM,236800,Exact +GARD:0010039,UMLS,C0268474,Exact +GARD:0010039,SNOMED-CT,33116002,NA +GARD:0010041,SNOMED-CT,720640005,NA +GARD:0010041,Orphanet,1200,Exact +GARD:0010041,OMIM,616462,BTNT +GARD:0010041,UMLS,C1837822,Exact +GARD:0010041,ICD-10,Q87.8,NTBT +GARD:0010041,OMIM,608572,Exact +GARD:0010041,MeSH,C537411,Exact +GARD:0010043,OMIM,602083,Exact +GARD:0010043,GeneticAlliance,7322,NA +GARD:0010043,UMLS,C1865885,NA +GARD:0010043,DiseaseOntology,110832,NA +GARD:0010045,Orphanet,79303,Exact +GARD:0010045,ICD-10,K76.8,NTBT +GARD:0010045,OMIM,235555,Exact +GARD:0010045,SNOMED-CT,238035000,NA +GARD:0010045,UMLS,C1856127,Exact +GARD:0010045,MeSH,C535443,Exact +GARD:0010046,SNOMED-CT,700463002,NA +GARD:0010046,Orphanet,79095,Exact +GARD:0010046,OMIM,214950,Exact +GARD:0010046,UMLS,C3280428,Exact +GARD:0010046,OMIM,614307,BTNT +GARD:0010046,ICD-10,K76.8,NTBT +GARD:0010046,MeSH,C535444,Exact +GARD:0010046,UMLS,C1858328,Exact +GARD:0010047,SNOMED-CT,234589002,NA +GARD:0010047,Orphanet,32,Exact +GARD:0010047,UMLS,C1291643,Exact +GARD:0010047,MeSH,C536835,Exact +GARD:0010047,OMIM,266130,BTNT +GARD:0010047,OMIM,231900,BTNT +GARD:0010047,ICD-10,D55.1,NTBT +GARD:0010047,UMLS,C0398746,Exact +GARD:0010048,SNOMED-CT,23610003,NA +GARD:0010048,Orphanet,79143,Exact +GARD:0010048,UMLS,C0265998,Exact +GARD:0010048,OMIM,614149,BTNT +GARD:0010048,ICD-10,Q84.3,Exact +GARD:0010048,OMIM,107000,BTNT +GARD:0010048,OMIM,206800,BTNT +GARD:0010048,ICD-11,EC22.0,NTBT +GARD:0010049,SNOMED-CT,231996009,NA +GARD:0010049,Orphanet,75377,Exact +GARD:0010049,MeSH,C535358,Exact +GARD:0010049,OMIM,215500,Exact +GARD:0010049,OMIM,613105,BTNT +GARD:0010049,OMIM,613144,BTNT +GARD:0010049,ICD-10,H31.2,NTBT +GARD:0010049,UMLS,C1536451,Exact +GARD:0010050,Orphanet,41751,Exact +GARD:0010050,SNOMED-CT,312927001,NA +GARD:0010050,UMLS,C1859486,Exact +GARD:0010050,MeSH,C535440,Exact +GARD:0010050,OMIM,210370,Exact +GARD:0010050,ICD-10,H15.5,NTBT +GARD:0010051,Orphanet,69085,Exact +GARD:0010051,OMIM,603543,Exact +GARD:0010051,MeSH,C535903,Exact +GARD:0010051,UMLS,C1863753,Exact +GARD:0010051,SNOMED-CT,721972001,NA +GARD:0010053,Orphanet,268835,Exact +GARD:0010053,ICD-10,Q05.9,NTBT +GARD:0010053,UMLS,C1836022,Exact +GARD:0010053,SNOMED-CT,104431000119107,NA +GARD:0010054,Orphanet,2725,Exact +GARD:0010054,OMIM,609465,Exact +GARD:0010056,Orphanet,79113,Exact +GARD:0010056,OMIM,610536,Exact +GARD:0010056,ICD-10,Q87.0,NTBT +GARD:0010056,UMLS,C1864652,Exact +GARD:0010056,SNOMED-CT,711543008,NA +GARD:0010057,SNOMED-CT,773303005,NA +GARD:0010057,Orphanet,168454,Exact +GARD:0010057,UMLS,C1864872,Exact +GARD:0010057,MeSH,C535785,Exact +GARD:0010057,ICD-10,Q77.7,NTBT +GARD:0010057,OMIM,610442,Exact +GARD:0010061,Orphanet,50809,Exact +GARD:0010061,OMIM,609655,Exact +GARD:0010061,UMLS,C1864784,Exact +GARD:0010061,SNOMED-CT,723580007,NA +GARD:0010066,Orphanet,498485,Exact +GARD:0010066,OMIM,608811,Exact +GARD:0010070,SNOMED-CT,15629411000119100,NA +GARD:0010070,Orphanet,251639,Exact +GARD:0010070,ICD-10,D43.2,NTBT +GARD:0010070,UMLS,C0206725,Exact +GARD:0010072,SNOMED-CT,389216001,NA +GARD:0010072,Orphanet,85182,Exact +GARD:0010072,UMLS,C1862177,Exact +GARD:0010072,UMLS,C1300202,Exact +GARD:0010072,ICD-10,M89.8,NTBT +GARD:0010072,MeSH,C536169,Exact +GARD:0010072,OMIM,112250,Exact +GARD:0010075,OMIM,601230,Exact +GARD:0010075,UMLS,C1832586,NA +GARD:0010081,SNOMED-CT,763619009,NA +GARD:0010081,Orphanet,2475,Exact +GARD:0010081,UMLS,C1848463,Exact +GARD:0010081,OMIM,277740,Exact +GARD:0010081,ICD-10,Q87.8,NTBT +GARD:0010081,MeSH,C536700,Exact +GARD:0010082,SNOMED-CT,724226009,NA +GARD:0010082,Orphanet,85179,Exact +GARD:0010082,ICD-10,Q78.2,NTBT +GARD:0010082,UMLS,C1838258,Exact +GARD:0010082,OMIM,600329,Exact +GARD:0010082,OMIM,259720,Exact +GARD:0010083,Orphanet,79124,Exact +GARD:0010083,OMIM,235550,Exact +GARD:0010083,UMLS,C1856128,Exact +GARD:0010083,ICD-10,K76.5,NTBT +GARD:0010083,ICD-11,4A01.33,Exact +GARD:0010083,SNOMED-CT,724361001,NA +GARD:0010084,SNOMED-CT,699420006,NA +GARD:0010084,Orphanet,141148,Exact +GARD:0010084,MeSH,C535862,Exact +GARD:0010084,UMLS,C1847521,Exact +GARD:0010084,ICD-10,Q67.4,NTBT +GARD:0010084,OMIM,606773,Exact +GARD:0010088,Orphanet,77297,Exact +GARD:0010088,MedDRA,10072223,Exact +GARD:0010088,UMLS,C1864997,Exact +GARD:0010088,MeSH,C537839,Exact +GARD:0010088,ICD-10,D84.8,NTBT +GARD:0010088,OMIM,609628,Exact +GARD:0010088,SNOMED-CT,703540008,NA +GARD:0010089,Orphanet,2886,Exact +GARD:0010089,ICD-10,Q87.8,NTBT +GARD:0010089,UMLS,C1839463,Exact +GARD:0010089,MeSH,C536942,Exact +GARD:0010089,OMIM,311900,Exact +GARD:0010089,SNOMED-CT,725911008,NA +GARD:0010090,OMIM,602196,Exact +GARD:0010090,UMLS,C1865783,NA +GARD:0010090,GeneticAlliance,5749,NA +GARD:0010091,Orphanet,821,Exact +GARD:0010091,MedDRA,10064387,Exact +GARD:0010091,MeSH,D058495,Exact +GARD:0010091,UMLS,C0175695,Exact +GARD:0010091,ICD-10,Q87.3,NTBT +GARD:0010091,OMIM,117550,BTNT +GARD:0010091,OMIM,617169,BTNT +GARD:0010091,SNOMED-CT,75968004,NA +GARD:0010092,Orphanet,79230,Exact +GARD:0010092,MeSH,C537247,Exact +GARD:0010092,OMIM,602390,Exact +GARD:0010092,ICD-10,E83.1,NTBT +GARD:0010092,UMLS,C0268060,Exact +GARD:0010092,OMIM,613313,BTNT +GARD:0010092,SNOMED-CT,50855007,NA +GARD:0010093,SNOMED-CT,719974003,NA +GARD:0010093,Orphanet,225123,Exact +GARD:0010093,MeSH,C537248,Exact +GARD:0010093,OMIM,604250,Exact +GARD:0010093,ICD-10,E83.1,NTBT +GARD:0010093,UMLS,C1858664,Exact +GARD:0010094,Orphanet,139491,Exact +GARD:0010094,OMIM,606069,Exact +GARD:0010094,MeSH,C537249,Exact +GARD:0010094,ICD-10,E83.1,NTBT +GARD:0010094,UMLS,C1853733,Exact +GARD:0010094,SNOMED-CT,719975002,NA +GARD:0010095,OMIM,602481,Exact +GARD:0010095,Orphanet,569,NTBT +GARD:0010095,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/sporadic-hemiplegic-migraine,NA +GARD:0010095,DiseaseOntology,111182,NA +GARD:0010095,UMLS,C1865322,NA +GARD:0010096,Orphanet,523,Exact +GARD:0010096,ICD-10,C64,NTBT +GARD:0010096,OMIM,150800,Exact +GARD:0010096,SNOMED-CT,404043000,NA +GARD:0010096,UMLS,C1708350,Exact +GARD:0010097,OMIM,150700,Exact +GARD:0010097,GeneticAlliance,4160,NA +GARD:0010097,UMLS,C1835488,NA +GARD:0010099,SNOMED-CT,78586005,NA +GARD:0010099,Orphanet,33573,Exact +GARD:0010099,ICD-10,E72.8,NTBT +GARD:0010099,OMIM,231950,Exact +GARD:0010099,UMLS,C0268524,Exact +GARD:0010101,Orphanet,168443,Exact +GARD:0010101,SNOMED-CT,773300008,NA +GARD:0010101,UMLS,C1866728,Exact +GARD:0010101,MeSH,C535783,Exact +GARD:0010101,ICD-10,Q77.7,NTBT +GARD:0010101,OMIM,183849,Exact +GARD:0010103,Orphanet,79148,Exact +GARD:0010103,MedDRA,10014338,Exact +GARD:0010103,MeSH,C536202,Exact +GARD:0010103,UMLS,C0221271,Exact +GARD:0010103,ICD-10,L87.2,NTBT +GARD:0010103,OMIM,130100,Exact +GARD:0010103,SNOMED-CT,49428008,NA +GARD:0010104,OMIM,177850,Exact +GARD:0010104,DiseaseOntology,2738,NA +GARD:0010104,UMLS,C1867450,NA +GARD:0010104,GeneticAlliance,6056,NA +GARD:0010106,Orphanet,178389,Exact +GARD:0010106,OMIM,612301,Exact +GARD:0010106,UMLS,C2676766,Exact +GARD:0010106,ICD-10,Q78.2,NTBT +GARD:0010106,SNOMED-CT,773730002,NA +GARD:0010108,OMIM,608931,Exact +GARD:0010108,Orphanet,98913,NTBT +GARD:0010108,GeneticAlliance,5000,NA +GARD:0010108,DiseaseOntology,110679,NA +GARD:0010108,UMLS,C1837091,NA +GARD:0010109,Orphanet,199,Exact +GARD:0010109,UMLS,C0270972,Exact +GARD:0010109,MeSH,D003635,Exact +GARD:0010109,OMIM,610759,BTNT +GARD:0010109,OMIM,300882,BTNT +GARD:0010109,ICD-10,Q87.1,NTBT +GARD:0010109,OMIM,300590,BTNT +GARD:0010109,OMIM,122470,Exact +GARD:0010109,OMIM,614701,BTNT +GARD:0010109,MedDRA,10056354,Exact +GARD:0010109,SNOMED-CT,40354009,NA +GARD:0010111,OMIM,161800,Exact +GARD:0010111,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/intranuclear-rod-myopathy,NA +GARD:0010111,GeneticAlliance,5125,NA +GARD:0010111,SNOMED-CT,702349003,NA +GARD:0010111,DiseaseOntology,110927,NA +GARD:0010111,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/actin-accumulation-myopathy,NA +GARD:0010111,UMLS,C3711389,NA +GARD:0010116,SNOMED-CT,724277002,NA +GARD:0010116,Orphanet,91132,Exact +GARD:0010116,OMIM,602400,Exact +GARD:0010116,UMLS,C1835851,Exact +GARD:0010116,ICD-10,Q80.8,NTBT +GARD:0010118,SNOMED-CT,193687000,NA +GARD:0010118,Orphanet,75382,Exact +GARD:0010118,MeSH,C537743,Exact +GARD:0010118,UMLS,C1306122,Exact +GARD:0010118,ICD-10,H53.6,NTBT +GARD:0010118,OMIM,258100,Exact +GARD:0010118,OMIM,613411,BTNT +GARD:0010119,OMIM,304030,Exact +GARD:0010119,GeneticAlliance,1765,NA +GARD:0010119,UMLS,C1844775,NA +GARD:0010120,OMIM,153840,Exact +GARD:0010120,DiseaseOntology,50661,NA +GARD:0010120,GeneticAlliance,4404,NA +GARD:0010120,UMLS,C1835178,NA +GARD:0010120,UMLS,C4551953,NA +GARD:0010121,Orphanet,75858,Exact +GARD:0010121,UMLS,C1857802,Exact +GARD:0010121,SNOMED-CT,715628009,NA +GARD:0010121,OMIM,610156,Exact +GARD:0010121,MeSH,C536984,Exact +GARD:0010123,Orphanet,75373,Exact +GARD:0010123,OMIM,600790,Exact +GARD:0010123,UMLS,C1833321,Exact +GARD:0010123,MeSH,C535356,Exact +GARD:0010123,SNOMED-CT,719266007,NA +GARD:0010126,SNOMED-CT,18756002,NA +GARD:0010126,Orphanet,79256,Exact +GARD:0010126,ICD-10,E75.1,NTBT +GARD:0010126,UMLS,C0268272,Exact +GARD:0010126,OMIM,230600,Exact +GARD:0010127,Orphanet,325448,Exact +GARD:0010127,OMIM,228300,Exact +GARD:0010127,ICD-10,Q56.1,NTBT +GARD:0010128,Orphanet,52901,Exact +GARD:0010128,MeSH,C537070,Exact +GARD:0010128,UMLS,C0342386,Exact +GARD:0010128,OMIM,229070,Exact +GARD:0010128,ICD-10,E23.6,NTBT +GARD:0010128,UMLS,C1856716,Exact +GARD:0010128,SNOMED-CT,758664007,NA +GARD:0010129,Orphanet,90674,Exact +GARD:0010129,ICD-10,E03.1,NTBT +GARD:0010129,OMIM,275100,Exact +GARD:0010129,SNOMED-CT,89261000,NA +GARD:0010130,Orphanet,48652,Exact +GARD:0010130,ICD-10,Q93.5,NTBT +GARD:0010130,OMIM,606232,Exact +GARD:0010130,UMLS,C1853490,Exact +GARD:0010131,Orphanet,90117,Exact +GARD:0010131,OMIM,604484,Exact +GARD:0010131,ICD-10,G60.0,NTBT +GARD:0010131,MeSH,C535717,Exact +GARD:0010131,UMLS,C1858338,Exact +GARD:0010131,SNOMED-CT,715665006,NA +GARD:0010132,SNOMED-CT,715799004,NA +GARD:0010132,Orphanet,99953,Exact +GARD:0010132,OMIM,605285,Exact +GARD:0010132,UMLS,C1854449,Exact +GARD:0010132,ICD-10,G60.0,NTBT +GARD:0010133,Orphanet,139552,Exact +GARD:0010133,ICD-10,G12.2,NTBT +GARD:0010133,UMLS,C1854023,Exact +GARD:0010133,OMIM,605726,Exact +GARD:0010133,SNOMED-CT,763533003,NA +GARD:0010138,Orphanet,98805,Exact +GARD:0010138,UMLS,C1860315,Exact +GARD:0010138,SNOMED-CT,719276005,NA +GARD:0010138,OMIM,128101,Exact +GARD:0010138,UMLS,C1851943,Exact +GARD:0010138,ICD-10,G24.1,NTBT +GARD:0010140,Orphanet,97297,Exact +GARD:0010140,OMIM,605039,Exact +GARD:0010140,ICD-10,Q87.8,NTBT +GARD:0010140,UMLS,C0796232,Exact +GARD:0010140,SNOMED-CT,720565000,NA +GARD:0010142,Orphanet,216804,Exact +GARD:0010142,OMIM,166210,Exact +GARD:0010142,OMIM,610915,BTNT +GARD:0010142,UMLS,C0268358,Exact +GARD:0010142,OMIM,259440,BTNT +GARD:0010142,ICD-10,Q78.0,NTBT +GARD:0010142,OMIM,610682,BTNT +GARD:0010142,SNOMED-CT,205496008,NA +GARD:0010144,Orphanet,166265,Exact +GARD:0010144,UMLS,C0399378,Exact +GARD:0010144,OMIM,125500,Exact +GARD:0010144,ICD-10,K00.5,NTBT +GARD:0010144,SNOMED-CT,234970006,NA +GARD:0010145,Orphanet,1713,Exact +GARD:0010145,UMLS,C2931246,Exact +GARD:0010145,OMIM,610883,Exact +GARD:0010145,MeSH,C536578,Exact +GARD:0010145,ICD-10,Q92.3,NTBT +GARD:0010145,UMLS,C1970482,Exact +GARD:0010145,SNOMED-CT,734016004,NA +GARD:0010147,Orphanet,107,Exact +GARD:0010147,MeSH,D019280,Exact +GARD:0010147,SNOMED-CT,290006,NA +GARD:0010147,ICD-10,Q87.8,NTBT +GARD:0010147,UMLS,C0265234,Exact +GARD:0010147,MedDRA,10071135,Exact +GARD:0010147,OMIM,113650,Exact +GARD:0010147,OMIM,610896,BTNT +GARD:0010148,Orphanet,52429,Exact +GARD:0010148,OMIM,120502,BTNT +GARD:0010148,ICD-10,Q87.0,NTBT +GARD:0010148,OMIM,608389,BTNT +GARD:0010148,OMIM,602588,Exact +GARD:0010148,SNOMED-CT,764810000,NA +GARD:0010149,SNOMED-CT,254096001,NA +GARD:0010149,Orphanet,1801,Exact +GARD:0010149,MeSH,C538128,Exact +GARD:0010149,ICD-10,Q79.8,NTBT +GARD:0010149,OMIM,211350,Exact +GARD:0010149,UMLS,C0432239,Exact +GARD:0010151,OMIM,612952,Exact +GARD:0010151,Orphanet,51,NTBT +GARD:0010151,UMLS,C2749659,NA +GARD:0010151,DiseaseOntology,50629,NA +GARD:0010152,OMIM,610915,Exact +GARD:0010152,UMLS,C1970458,NA +GARD:0010152,GeneticAlliance,5463,NA +GARD:0010152,DiseaseOntology,110336,NA +GARD:0010153,SNOMED-CT,89420002,NA +GARD:0010153,Orphanet,31837,Exact +GARD:0010153,OMIM,265450,Exact +GARD:0010153,MeSH,D011668,Exact +GARD:0010153,UMLS,C0034091,Exact +GARD:0010153,MedDRA,10037458,Exact +GARD:0010156,SNOMED-CT,233646003,NA +GARD:0010156,Orphanet,264688,Exact +GARD:0010156,ICD-10,I89.8,NTBT +GARD:0010156,UMLS,C0340014,Exact +GARD:0010156,OMIM,603523,Exact +GARD:0010163,SNOMED-CT,763686007,NA +GARD:0010163,Orphanet,307766,Exact +GARD:0010163,OMIM,607656,Exact +GARD:0010163,ICD-10,Q82.8,NTBT +GARD:0010163,UMLS,C1843291,Exact +GARD:0010167,OMIM,608091,Exact +GARD:0010167,UMLS,C1842577,NA +GARD:0010167,GeneticAlliance,3919,NA +GARD:0010167,DiseaseOntology,110988,NA +GARD:0010168,Orphanet,220493,Exact +GARD:0010168,ICD-10,Q04.3,NTBT +GARD:0010168,OMIM,614970,BTNT +GARD:0010168,OMIM,614424,BTNT +GARD:0010168,OMIM,614464,BTNT +GARD:0010168,OMIM,608629,BTNT +GARD:0010168,OMIM,617121,BTNT +GARD:0010168,ICD-10,H35.5,NTBT +GARD:0010168,SNOMED-CT,716998009,NA +GARD:0010169,Orphanet,220497,Exact +GARD:0010169,ICD-10,Q61.5,NTBT +GARD:0010169,OMIM,609583,Exact +GARD:0010169,ICD-10,Q04.3,NTBT +GARD:0010169,OMIM,611560,BTNT +GARD:0010169,OMIM,614424,BTNT +GARD:0010169,SNOMED-CT,716999001,NA +GARD:0010173,SNOMED-CT,715634002,NA +GARD:0010173,Orphanet,83451,Exact +GARD:0010173,MeSH,C537063,Exact +GARD:0010173,ICD-10,D16.5,NTBT +GARD:0010173,UMLS,C0555197,Exact +GARD:0010173,ICD-10,D16.4,NTBT +GARD:0010175,SNOMED-CT,253017000,NA +GARD:0010175,Orphanet,99978,Exact +GARD:0010175,MeSH,D018285,Exact +GARD:0010175,UMLS,C0206702,Exact +GARD:0010175,ICD-10,C24.0,NTBT +GARD:0010175,ICD-11,2C18.0,Exact +GARD:0010177,Orphanet,521219,Exact +GARD:0010177,ICD-10,K80.8,NTBT +GARD:0010179,SNOMED-CT,703531009,NA +GARD:0010179,Orphanet,79493,Exact +GARD:0010179,UMLS,C1857941,Exact +GARD:0010179,MeSH,C536611,Exact +GARD:0010179,OMIM,612099,BTNT +GARD:0010179,OMIM,605041,Exact +GARD:0010179,OMIM,132700,BTNT +GARD:0010179,OMIM,601606,BTNT +GARD:0010181,Orphanet,293202,Exact +GARD:0010181,ICD-10,C49.9,NTBT +GARD:0010181,UMLS,C0205944,Exact +GARD:0010181,MedDRA,10015099,Exact +GARD:0010181,SNOMED-CT,782827000,NA +GARD:0010184,Orphanet,398088,Exact +GARD:0010184,SNOMED-CT,773489008,NA +GARD:0010184,ICD-10,D58.8,NTBT +GARD:0010184,OMIM,185020,Exact +GARD:0010188,OMIM,300652,Exact +GARD:0010188,Orphanet,95429,NTBT +GARD:0010188,DiseaseOntology,4028,NA +GARD:0010188,UMLS,C4721404,NA +GARD:0010189,OMIM,106050,Exact +GARD:0010189,Orphanet,95429,NTBT +GARD:0010189,GeneticAlliance,459,NA +GARD:0010189,DiseaseOntology,4028,NA +GARD:0010189,UMLS,C1970130,NA +GARD:0010190,Orphanet,268994,Exact +GARD:0010190,UMLS,C1846385,Exact +GARD:0010190,OMIM,607341,Exact +GARD:0010190,ICD-10,Q04.8,NTBT +GARD:0010193,Orphanet,86884,Exact +GARD:0010193,MeSH,C537503,Exact +GARD:0010193,OMIM,618398,Exact +GARD:0010193,ICD-10,C83.6,Exact +GARD:0010193,UMLS,C0522624,Exact +GARD:0010193,ICD-11,2B00,Exact +GARD:0010193,SNOMED-CT,404133000,NA +GARD:0010199,SNOMED-CT,721200000,NA +GARD:0010199,Orphanet,98890,Exact +GARD:0010199,UMLS,C1839576,Exact +GARD:0010199,ICD-10,H47.2,NTBT +GARD:0010199,OMIM,311050,Exact +GARD:0010200,OMIM,258500,Exact +GARD:0010200,UMLS,C1850281,NA +GARD:0010200,GeneticAlliance,5384,NA +GARD:0010200,DiseaseOntology,111435,NA +GARD:0010201,OMIM,610708,Exact +GARD:0010201,GeneticAlliance,5383,NA +GARD:0010201,UMLS,C1853139,NA +GARD:0010201,DiseaseOntology,111438,NA +GARD:0010202,Orphanet,1001,Exact +GARD:0010202,ICD-10,Q93.5,NTBT +GARD:0010202,OMIM,600430,Exact +GARD:0010202,MeSH,C538317,Exact +GARD:0010202,UMLS,C2931817,Exact +GARD:0010203,SNOMED-CT,719517009,NA +GARD:0010203,Orphanet,67036,Exact +GARD:0010203,OMIM,165300,Exact +GARD:0010203,ICD-10,H47.2,NTBT +GARD:0010203,MeSH,C537128,Exact +GARD:0010203,UMLS,C1833809,Exact +GARD:0010204,OMIM,615983,Exact +GARD:0010204,UMLS,C3892039,NA +GARD:0010204,DiseaseOntology,110127,NA +GARD:0010205,OMIM,605231,Exact +GARD:0010205,DiseaseOntology,110128,NA +GARD:0010205,UMLS,C1858054,NA +GARD:0010206,OMIM,615984,Exact +GARD:0010206,DiseaseOntology,110129,NA +GARD:0010206,UMLS,C1859565,NA +GARD:0010207,OMIM,615985,Exact +GARD:0010207,UMLS,C1859566,NA +GARD:0010207,DiseaseOntology,110130,NA +GARD:0010208,OMIM,615986,Exact +GARD:0010208,DiseaseOntology,110131,NA +GARD:0010208,UMLS,C1859567,NA +GARD:0010209,OMIM,615987,Exact +GARD:0010209,Orphanet,110,NTBT +GARD:0010209,DiseaseOntology,110132,NA +GARD:0010209,UMLS,C1859568,NA +GARD:0010210,OMIM,615988,Exact +GARD:0010210,Orphanet,110,NTBT +GARD:0010210,DiseaseOntology,110133,NA +GARD:0010210,UMLS,C1859569,NA +GARD:0010211,OMIM,615989,Exact +GARD:0010211,Orphanet,110,NTBT +GARD:0010211,UMLS,C1859570,NA +GARD:0010211,DiseaseOntology,110134,NA +GARD:0010212,OMIM,269700,Exact +GARD:0010212,DiseaseOntology,111136,NA +GARD:0010212,UMLS,C1720863,NA +GARD:0010212,GeneticAlliance,1830,NA +GARD:0010213,Orphanet,572361,Exact +GARD:0010213,OMIM,110100,NTBT +GARD:0010214,SNOMED-CT,717155003,NA +GARD:0010214,Orphanet,247598,Exact +GARD:0010214,ICD-10,E72.2,NTBT +GARD:0010214,OMIM,605814,Exact +GARD:0010214,UMLS,C1853942,Exact +GARD:0010215,SNOMED-CT,716863007,NA +GARD:0010215,Orphanet,247585,Exact +GARD:0010215,ICD-10,E72.2,NTBT +GARD:0010215,OMIM,603471,Exact +GARD:0010215,UMLS,C1863844,Exact +GARD:0010216,Orphanet,443162,Exact +GARD:0010216,ICD-10,Q04.8,NTBT +GARD:0010216,OMIM,605013,Exact +GARD:0010220,SNOMED-CT,720826006,NA +GARD:0010220,Orphanet,137678,Exact +GARD:0010220,ICD-10,Q77.7,NTBT +GARD:0010220,MeSH,C535766,Exact +GARD:0010220,UMLS,C1836683,Exact +GARD:0010220,OMIM,609162,Exact +GARD:0010221,Orphanet,93111,Exact +GARD:0010221,ICD-10,N11.8,NTBT +GARD:0010221,UMLS,C0431693,Exact +GARD:0010221,OMIM,616026,BTNT +GARD:0010221,OMIM,137920,Exact +GARD:0010221,UMLS,C2959918,Exact +GARD:0010221,MeSH,C535520,Exact +GARD:0010223,SNOMED-CT,445274004,NA +GARD:0010223,Orphanet,79159,Exact +GARD:0010223,ICD-10,E71.1,NTBT +GARD:0010223,UMLS,C1969809,Exact +GARD:0010223,OMIM,611283,Exact +GARD:0010223,MeSH,C535541,Exact +GARD:0010224,SNOMED-CT,59277005,NA +GARD:0010224,Orphanet,73263,Exact +GARD:0010224,ICD-10,B46.4,BTNT +GARD:0010224,MeSH,D009091,Exact +GARD:0010224,ICD-10,B46.9,BTNT +GARD:0010224,ICD-10,B46.0,BTNT +GARD:0010224,UMLS,C0043541,Exact +GARD:0010224,MedDRA,10061418,Exact +GARD:0010224,ICD-10,B46.3,BTNT +GARD:0010224,ICD-10,B46.2,BTNT +GARD:0010224,ICD-10,B46.1,BTNT +GARD:0010224,UMLS,C0026718,Exact +GARD:0010224,MedDRA,10028098,Exact +GARD:0010224,MeSH,D020096,Exact +GARD:0010224,ICD-10,B46.8,BTNT +GARD:0010224,ICD-10,B46.5,BTNT +GARD:0010225,Orphanet,247709,Exact +GARD:0010225,OMIM,162300,Exact +GARD:0010225,ICD-10,D44.8,NTBT +GARD:0010225,MedDRA,10056420,Exact +GARD:0010225,MeSH,D018814,Exact +GARD:0010225,UMLS,C0025269,Exact +GARD:0010226,SNOMED-CT,718750004,NA +GARD:0010226,Orphanet,263508,Exact +GARD:0010226,OMIM,611209,Exact +GARD:0010226,UMLS,C2931011,Exact +GARD:0010226,ICD-10,E77.8,NTBT +GARD:0010229,Orphanet,266,Exact +GARD:0010229,ICD-10,G71.0,NTBT +GARD:0010229,UMLS,C1834659,Exact +GARD:0010229,OMIM,609200,NTBT +GARD:0010229,OMIM,159000,Exact +GARD:0010229,SNOMED-CT,719985001,NA +GARD:0010230,OMIM,181350,Exact +GARD:0010230,DiseaseOntology,70247,NA +GARD:0010230,SNOMED-CT,1010712009,NA +GARD:0010230,UMLS,C0410190,NA +GARD:0010230,GeneticAlliance,7808,NA +GARD:0010237,Orphanet,65284,Exact +GARD:0010237,OMIM,607483,NTBT +GARD:0010237,UMLS,C1843807,Exact +GARD:0010237,ICD-10,G93.8,NTBT +GARD:0010237,SNOMED-CT,703522009,NA +GARD:0010237,MeSH,C537658,Exact +GARD:0010238,SNOMED-CT,699185005,NA +GARD:0010238,Orphanet,275534,Exact +GARD:0010238,UMLS,C2931112,Exact +GARD:0010238,ICD-10,M62.8,NTBT +GARD:0010238,OMIM,614160,Exact +GARD:0010239,Orphanet,168569,Exact +GARD:0010239,OMIM,602782,Exact +GARD:0010239,ICD-10,D76.3,NTBT +GARD:0010239,SNOMED-CT,711159002,NA +GARD:0010241,OMIM,610629,Exact +GARD:0010241,DiseaseOntology,111887,NA +GARD:0010241,GeneticAlliance,2249,NA +GARD:0010241,UMLS,C1857719,NA +GARD:0010244,Orphanet,535453,Exact +GARD:0010244,ICD-10,E78.3,NTBT +GARD:0010244,OMIM,246650,Exact +GARD:0010247,SNOMED-CT,41040004,NA +GARD:0010247,Orphanet,870,Exact +GARD:0010247,ICD-10,Q90.1,BTNT +GARD:0010247,ICD-10,Q90.0,BTNT +GARD:0010247,ICD-10,Q90.9,BTNT +GARD:0010247,ICD-11,LD40.0,Exact +GARD:0010247,ICD-10,Q90.2,BTNT +GARD:0010247,MeSH,D004314,Exact +GARD:0010247,UMLS,C0013080,Exact +GARD:0010247,MedDRA,10044688,Exact +GARD:0010247,OMIM,190685,Exact +GARD:0010248,Orphanet,180772,Exact +GARD:0010252,Orphanet,289390,Exact +GARD:0010252,ICD-11,4A43.20,Exact +GARD:0010252,ICD-10,M35.0,Exact +GARD:0010252,OMIM,270150,Exact +GARD:0010252,SNOMED-CT,239912009,NA +GARD:0010263,SNOMED-CT,417044008,NA +GARD:0010263,Orphanet,99927,Exact +GARD:0010263,MeSH,D006828,Exact +GARD:0010263,MedDRA,10020481,Exact +GARD:0010263,OMIM,614293,BTNT +GARD:0010263,ICD-10,O01.9,BTNT +GARD:0010263,ICD-10,O01.0,BTNT +GARD:0010263,UMLS,C0020217,Exact +GARD:0010263,ICD-10,O01.1,BTNT +GARD:0010263,OMIM,231090,BTNT +GARD:0010266,SNOMED-CT,724357007,NA +GARD:0010266,Orphanet,85458,Exact +GARD:0010266,ICD-10,I68.0*,NTBT +GARD:0010266,OMIM,105150,BTNT +GARD:0010266,UMLS,C1510489,Exact +GARD:0010266,OMIM,605714,BTNT +GARD:0010266,ICD-10,E85.4+,NTBT +GARD:0010267,SNOMED-CT,2359002,NA +GARD:0010267,Orphanet,309147,Exact +GARD:0010267,UMLS,C0268630,Exact +GARD:0010267,OMIM,237400,Exact +GARD:0010267,ICD-10,E79.8,NTBT +GARD:0010277,Orphanet,2952,Exact +GARD:0010277,ICD-10,Q74.8,NTBT +GARD:0010277,OMIM,201550,Exact +GARD:0010277,SNOMED-CT,720463009,NA +GARD:0010280,Orphanet,2345,Exact +GARD:0010280,SNOMED-CT,5601008,NA +GARD:0010280,UMLS,C0022738,Exact +GARD:0010280,OMIM,214300,BTNT +GARD:0010280,ICD-10,Q76.1,Exact +GARD:0010280,OMIM,118100,BTNT +GARD:0010280,ICD-11,LB73.20,Exact +GARD:0010280,OMIM,613702,BTNT +GARD:0010281,OMIM,180500,Exact +GARD:0010281,Orphanet,782,NTBT +GARD:0010281,UMLS,C3714873,NA +GARD:0010281,GeneticAlliance,6329,NA +GARD:0010281,DiseaseOntology,110120,NA +GARD:0010283,SNOMED-CT,709490002,NA +GARD:0010283,Orphanet,35107,Exact +GARD:0010283,ICD-10,Q87.8,NTBT +GARD:0010283,OMIM,602398,Exact +GARD:0010283,UMLS,C1865596,Exact +GARD:0010287,SNOMED-CT,44145005,NA +GARD:0010287,Orphanet,1945,Exact +GARD:0010287,UMLS,C0376532,Exact +GARD:0010287,OMIM,117100,Exact +GARD:0010287,ICD-11,8A61.20,Exact +GARD:0010287,ICD-10,G40.0,NTBT +GARD:0010287,OMIM,245570,NTBT +GARD:0010287,UMLS,C2363129,Exact +GARD:0010288,SNOMED-CT,699315005,NA +GARD:0010288,Orphanet,98908,Exact +GARD:0010288,UMLS,C1853136,Exact +GARD:0010288,ICD-10,E75.5,NTBT +GARD:0010288,OMIM,610717,Exact +GARD:0010290,SNOMED-CT,733468006,NA +GARD:0010290,Orphanet,166277,Exact +GARD:0010290,ICD-10,Q78.8,NTBT +GARD:0010290,UMLS,C1858032,Exact +GARD:0010290,OMIM,604922,Exact +GARD:0010291,SNOMED-CT,52298009,NA +GARD:0010291,Orphanet,2612,Exact +GARD:0010291,ICD-10,Q85.8,NTBT +GARD:0010291,UMLS,C0265329,Exact +GARD:0010291,OMIM,163200,Exact +GARD:0010291,UMLS,C3854181,Exact +GARD:0010294,SNOMED-CT,725394006,NA +GARD:0010294,Orphanet,139485,Exact +GARD:0010294,OMIM,619028,BTNT +GARD:0010294,ICD-10,G11.1,NTBT +GARD:0010294,OMIM,612016,BTNT +GARD:0010294,UMLS,C2677589,Exact +GARD:0010295,Orphanet,140952,Exact +GARD:0010295,ICD-10,Q87.8,NTBT +GARD:0010295,UMLS,C2678045,Exact +GARD:0010295,OMIM,300707,Exact +GARD:0010295,SNOMED-CT,723581006,NA +GARD:0010296,SNOMED-CT,699254009,NA +GARD:0010296,Orphanet,199318,Exact +GARD:0010296,ICD-10,Q93.5,NTBT +GARD:0010296,OMIM,612001,Exact +GARD:0010296,UMLS,C2677613,Exact +GARD:0010297,Orphanet,1802,Exact +GARD:0010297,OMIM,231095,Exact +GARD:0010297,UMLS,C1856465,Exact +GARD:0010297,ICD-10,Q78.8,NTBT +GARD:0010297,SNOMED-CT,389214003,NA +GARD:0010299,SNOMED-CT,767263007,NA +GARD:0010299,Orphanet,567,Exact +GARD:0010299,UMLS,C2936346,Exact +GARD:0010299,UMLS,C0431406,Exact +GARD:0010299,UMLS,C3266101,Exact +GARD:0010299,UMLS,C0795907,Exact +GARD:0010299,OMIM,192430,BTNT +GARD:0010299,MedDRA,10012979,Exact +GARD:0010299,MeSH,D058165,Exact +GARD:0010299,ICD-10,D82.1,Exact +GARD:0010299,MedDRA,10066430,Exact +GARD:0010299,UMLS,C0220704,Exact +GARD:0010299,OMIM,188400,BTNT +GARD:0010299,UMLS,C0012236,Exact +GARD:0010300,Orphanet,139450,Exact +GARD:0010300,ICD-10,Q13.8,NTBT +GARD:0010300,OMIM,611863,Exact +GARD:0010300,UMLS,C2678482,Exact +GARD:0010300,SNOMED-CT,724139004,NA +GARD:0010301,Orphanet,139455,Exact +GARD:0010301,OMIM,611809,Exact +GARD:0010301,ICD-10,H35.5,NTBT +GARD:0010301,SNOMED-CT,723828008,NA +GARD:0010302,SNOMED-CT,723720008,NA +GARD:0010302,Orphanet,139466,Exact +GARD:0010302,OMIM,611812,Exact +GARD:0010302,UMLS,C2678492,Exact +GARD:0010302,ICD-10,Q87.8,NTBT +GARD:0010303,SNOMED-CT,722287002,NA +GARD:0010303,Orphanet,137911,Exact +GARD:0010303,ICD-10,F84.8,NTBT +GARD:0010304,SNOMED-CT,765140006,NA +GARD:0010304,Orphanet,251076,Exact +GARD:0010304,ICD-10,Q92.3,NTBT +GARD:0010306,Orphanet,93606,Exact +GARD:0010306,ICD-10,E22.2,NTBT +GARD:0010306,UMLS,C1845202,Exact +GARD:0010306,OMIM,300539,Exact +GARD:0010306,SNOMED-CT,723440000,NA +GARD:0010307,Orphanet,137,Exact +GARD:0010307,ICD-10,E77.8,NTBT +GARD:0010307,UMLS,C0282577,Exact +GARD:0010307,SNOMED-CT,238049009,NA +GARD:0010311,Orphanet,70592,Exact +GARD:0010311,ICD-10,D84.8,NTBT +GARD:0010311,UMLS,C1843256,Exact +GARD:0010311,OMIM,607676,Exact +GARD:0010311,SNOMED-CT,699869003,NA +GARD:0010312,Orphanet,85146,Exact +GARD:0010312,ICD-10,G12.1,NTBT +GARD:0010312,UMLS,C1867005,Exact +GARD:0010312,OMIM,181400,Exact +GARD:0010313,Orphanet,437572,Exact +GARD:0010313,OMIM,181430,Exact +GARD:0010313,ICD-10,G71.0,NTBT +GARD:0010314,SNOMED-CT,230248006,NA +GARD:0010314,Orphanet,431255,Exact +GARD:0010314,ICD-10,G12.1,NTBT +GARD:0010314,UMLS,C0751335,Exact +GARD:0010314,OMIM,181405,Exact +GARD:0010316,Orphanet,98905,Exact +GARD:0010316,UMLS,C1850674,Exact +GARD:0010316,OMIM,255320,Exact +GARD:0010316,ICD-10,G71.2,NTBT +GARD:0010317,Orphanet,280671,Exact +GARD:0010317,OMIM,602541,Exact +GARD:0010317,UMLS,C1865233,Exact +GARD:0010317,ICD-10,G71.2,NTBT +GARD:0010319,Orphanet,2964,Exact +GARD:0010319,ICD-10,K07.1,NTBT +GARD:0010319,SNOMED-CT,778069004,NA +GARD:0010319,OMIM,176700,Exact +GARD:0010319,UMLS,C4755315,Exact +GARD:0010320,OMIM,608471,Exact +GARD:0010320,GeneticAlliance,4118,NA +GARD:0010320,UMLS,C1837974,NA +GARD:0010321,Orphanet,67046,Exact +GARD:0010321,OMIM,250950,Exact +GARD:0010321,ICD-10,E71.1,NTBT +GARD:0010321,UMLS,C0342728,Exact +GARD:0010321,UMLS,C0342727,Exact +GARD:0010321,SNOMED-CT,237951008,NA +GARD:0010322,SNOMED-CT,444838008,NA +GARD:0010322,Orphanet,79157,Exact +GARD:0010322,OMIM,610006,Exact +GARD:0010322,ICD-10,E71.1,NTBT +GARD:0010322,UMLS,C1864912,Exact +GARD:0010323,Orphanet,35704,Exact +GARD:0010323,UMLS,C2675179,Exact +GARD:0010323,ICD-10,E72.8,NTBT +GARD:0010323,OMIM,612718,Exact +GARD:0010323,SNOMED-CT,702440000,NA +GARD:0010324,Orphanet,79253,Exact +GARD:0010324,ICD-10,E70.1,NTBT +GARD:0010327,Orphanet,431361,Exact +GARD:0010327,ICD-10,G31.8,NTBT +GARD:0010327,OMIM,616034,Exact +GARD:0010327,UMLS,C1857252,Exact +GARD:0010327,SNOMED-CT,444944006,NA +GARD:0010332,SNOMED-CT,415764005,NA +GARD:0010332,Orphanet,69723,Exact +GARD:0010332,ICD-10,E70.2,NTBT +GARD:0010332,MedDRA,10069461,Exact +GARD:0010332,OMIM,276710,Exact +GARD:0010332,UMLS,C0268623,Exact +GARD:0010333,Orphanet,251359,Exact +GARD:0010333,MedDRA,10040655,Exact +GARD:0010333,ICD-10,D57.2,NTBT +GARD:0010333,MedDRA,10055579,Exact +GARD:0010333,UMLS,C0221019,Exact +GARD:0010333,UMLS,C0857812,Exact +GARD:0010333,SNOMED-CT,127041004,NA +GARD:0010335,Orphanet,579,Exact +GARD:0010335,MedDRA,10056886,Exact +GARD:0010335,ICD-10,E76.0,Exact +GARD:0010335,MeSH,D008059,Exact +GARD:0010335,UMLS,C0023786,Exact +GARD:0010335,UMLS,C2713321,Exact +GARD:0010335,OMIM,607016,BTNT +GARD:0010335,SNOMED-CT,75610003,NA +GARD:0010335,ICD-11,5C56.30,Exact +GARD:0010335,OMIM,607014,BTNT +GARD:0010335,OMIM,607015,BTNT +GARD:0010339,SNOMED-CT,765188009,NA +GARD:0010339,Orphanet,331206,Exact +GARD:0010339,OMIM,601457,Exact +GARD:0010339,UMLS,C1832322,Exact +GARD:0010339,ICD-10,D81.1,NTBT +GARD:0010341,Orphanet,83473,Exact +GARD:0010341,ICD-10,Q04.8,NTBT +GARD:0010341,OMIM,615938,BTNT +GARD:0010341,UMLS,C1863924,Exact +GARD:0010341,SNOMED-CT,722036008,NA +GARD:0010341,OMIM,603387,BTNT +GARD:0010341,OMIM,615937,BTNT +GARD:0010342,Orphanet,67048,Exact +GARD:0010342,UMLS,C0574085,Exact +GARD:0010342,OMIM,250951,Exact +GARD:0010342,ICD-10,E71.1,NTBT +GARD:0010342,UMLS,C1855126,Exact +GARD:0010342,SNOMED-CT,297233004,NA +GARD:0010346,Orphanet,100026,Exact +GARD:0010346,ICD-10,C88.2,NTBT +GARD:0010346,UMLS,C0018854,Exact +GARD:0010346,ICD-11,2A84.1,Exact +GARD:0010346,SNOMED-CT,109984001,NA +GARD:0010351,Orphanet,98758,Exact +GARD:0010351,ICD-10,G11.2,NTBT +GARD:0010351,UMLS,C0752124,Exact +GARD:0010351,OMIM,183086,Exact +GARD:0010351,SNOMED-CT,715752006,NA +GARD:0010352,Orphanet,71290,Exact +GARD:0010352,OMIM,601399,BTNT +GARD:0010352,UMLS,C1832388,Exact +GARD:0010352,SNOMED-CT,725034002,NA +GARD:0010352,OMIM,616216,Exact +GARD:0010352,ICD-10,D69.4,NTBT +GARD:0010353,Orphanet,738,Exact +GARD:0010353,ICD-10,E80.2,BTNT +GARD:0010353,MeSH,D011164,Exact +GARD:0010353,UMLS,C0235387,Exact +GARD:0010353,MedDRA,10061356,Exact +GARD:0010353,ICD-10,E80.1,BTNT +GARD:0010353,ICD-10,E80.0,BTNT +GARD:0010353,SNOMED-CT,418470004,NA +GARD:0010353,MedDRA,10036181,Exact +GARD:0010353,UMLS,C0032708,Exact +GARD:0010354,Orphanet,496693,Exact +GARD:0010354,OMIM,609545,Exact +GARD:0010355,Orphanet,91498,Exact +GARD:0010355,ICD-10,H49.1,NTBT +GARD:0010355,OMIM,136480,Exact +GARD:0010355,UMLS,C1850996,Exact +GARD:0010355,SNOMED-CT,782679002,NA +GARD:0010358,SNOMED-CT,764861005,NA +GARD:0010358,Orphanet,166108,Exact +GARD:0010358,OMIM,612292,Exact +GARD:0010358,ICD-10,Q87.8,NTBT +GARD:0010359,OMIM,168100,Exact +GARD:0010359,UMLS,C0238344,NA +GARD:0010359,SNOMED-CT,43647007,NA +GARD:0010360,SNOMED-CT,717973004,NA +GARD:0010360,Orphanet,251038,Exact +GARD:0010360,OMIM,611936,Exact +GARD:0010360,ICD-10,Q92.3,NTBT +GARD:0010360,UMLS,C2749873,Exact +GARD:0010361,OMIM,611875,Exact +GARD:0010361,GeneticAlliance,983,NA +GARD:0010361,UMLS,C2678478,NA +GARD:0010361,DiseaseOntology,110220,NA +GARD:0010362,OMIM,611876,Exact +GARD:0010362,UMLS,C2678477,NA +GARD:0010362,GeneticAlliance,984,NA +GARD:0010362,DiseaseOntology,110221,NA +GARD:0010363,SNOMED-CT,238719003,NA +GARD:0010363,Orphanet,79153,Exact +GARD:0010363,ICD-10,L60.3,NTBT +GARD:0010363,OMIM,161050,Exact +GARD:0010363,UMLS,C0406443,Exact +GARD:0010364,OMIM,612347,Exact +GARD:0010364,DiseaseOntology,2842,NA +GARD:0010364,UMLS,C2676723,NA +GARD:0010364,GeneticAlliance,3903,NA +GARD:0010364,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome,NA +GARD:0010365,SNOMED-CT,45116002,NA +GARD:0010365,Orphanet,70594,Exact +GARD:0010365,OMIM,612716,Exact +GARD:0010365,UMLS,C0268468,Exact +GARD:0010365,ICD-10,G24.1,NTBT +GARD:0010366,Orphanet,3339,Exact +GARD:0010366,UMLS,C1838329,Exact +GARD:0010366,OMIM,600268,Exact +GARD:0010366,SNOMED-CT,723554006,NA +GARD:0010367,Orphanet,140936,Exact +GARD:0010367,OMIM,608290,Exact +GARD:0010367,UMLS,C1842307,Exact +GARD:0010367,SNOMED-CT,719429003,NA +GARD:0010372,SNOMED-CT,84193000,NA +GARD:0010372,Orphanet,103909,Exact +GARD:0010372,ICD-11,5C61.3,Exact +GARD:0010372,ICD-10,E74.3,NTBT +GARD:0010372,OMIM,612119,Exact +GARD:0010372,UMLS,C0268187,Exact +GARD:0010373,OMIM,612099,Exact +GARD:0010373,UMLS,C2677505,NA +GARD:0010373,GeneticAlliance,7196,NA +GARD:0010376,OMIM,600105,Exact +GARD:0010376,UMLS,C1838647,NA +GARD:0010376,DiseaseOntology,110358,NA +GARD:0010376,GeneticAlliance,6251,NA +GARD:0010377,OMIM,312612,Exact +GARD:0010377,GeneticAlliance,6277,NA +GARD:0010377,UMLS,C1839368,NA +GARD:0010377,DiseaseOntology,110413,NA +GARD:0010378,OMIM,612165,Exact +GARD:0010378,UMLS,C2677325,NA +GARD:0010378,GeneticAlliance,6266,NA +GARD:0010378,DiseaseOntology,110378,NA +GARD:0010379,OMIM,612095,Exact +GARD:0010379,GeneticAlliance,6276,NA +GARD:0010379,UMLS,C2677516,NA +GARD:0010379,DiseaseOntology,110376,NA +GARD:0010380,OMIM,312600,Exact +GARD:0010380,DiseaseOntology,110415,NA +GARD:0010380,GeneticAlliance,6258,NA +GARD:0010380,UMLS,C2681923,NA +GARD:0010381,OMIM,300029,Exact +GARD:0010381,GeneticAlliance,6254,NA +GARD:0010381,DiseaseOntology,110414,NA +GARD:0010381,UMLS,C1845667,NA +GARD:0010382,OMIM,180104,Exact +GARD:0010382,UMLS,C1867300,NA +GARD:0010382,DiseaseOntology,110387,NA +GARD:0010382,GeneticAlliance,6279,NA +GARD:0010383,OMIM,600138,Exact +GARD:0010383,DiseaseOntology,110408,NA +GARD:0010383,GeneticAlliance,6250,NA +GARD:0010383,UMLS,C1838601,NA +GARD:0010384,OMIM,602772,Exact +GARD:0010384,GeneticAlliance,6263,NA +GARD:0010384,UMLS,C1864446,NA +GARD:0010384,DiseaseOntology,110384,NA +GARD:0010385,OMIM,600132,Exact +GARD:0010385,UMLS,C1838603,NA +GARD:0010385,DiseaseOntology,110381,NA +GARD:0010385,GeneticAlliance,6253,NA +GARD:0010386,OMIM,608133,Exact +GARD:0010386,DiseaseOntology,110383,NA +GARD:0010386,UMLS,C4013102,NA +GARD:0010386,UMLS,C1842475,NA +GARD:0010386,GeneticAlliance,6278,NA +GARD:0010387,OMIM,600852,Exact +GARD:0010387,GeneticAlliance,6255,NA +GARD:0010387,UMLS,C1833245,NA +GARD:0010387,DiseaseOntology,110404,NA +GARD:0010388,OMIM,600059,Exact +GARD:0010388,GeneticAlliance,6252,NA +GARD:0010388,DiseaseOntology,110403,NA +GARD:0010388,UMLS,C1838702,NA +GARD:0010389,OMIM,300155,Exact +GARD:0010389,UMLS,C3887982,NA +GARD:0010389,DiseaseOntology,110416,NA +GARD:0010389,GeneticAlliance,6262,NA +GARD:0010390,OMIM,300605,Exact +GARD:0010390,DiseaseOntology,110417,NA +GARD:0010390,UMLS,C1845104,NA +GARD:0010390,GeneticAlliance,6272,NA +GARD:0010391,OMIM,300424,Exact +GARD:0010391,GeneticAlliance,6261,NA +GARD:0010391,DiseaseOntology,110412,NA +GARD:0010391,UMLS,C1419610,NA +GARD:0010392,OMIM,601414,Exact +GARD:0010392,DiseaseOntology,110356,NA +GARD:0010392,UMLS,C1832378,NA +GARD:0010392,GeneticAlliance,6256,NA +GARD:0010393,OMIM,602594,Exact +GARD:0010393,GeneticAlliance,6260,NA +GARD:0010393,DiseaseOntology,110400,NA +GARD:0010393,UMLS,C3887981,NA +GARD:0010394,OMIM,606068,Exact +GARD:0010394,GeneticAlliance,6265,NA +GARD:0010394,DiseaseOntology,110365,NA +GARD:0010394,UMLS,C1419614,NA +GARD:0010395,OMIM,609913,Exact +GARD:0010395,GeneticAlliance,6270,NA +GARD:0010395,DiseaseOntology,110355,NA +GARD:0010395,UMLS,C1835927,NA +GARD:0010396,OMIM,609923,Exact +GARD:0010396,DiseaseOntology,110391,NA +GARD:0010396,UMLS,C1835923,NA +GARD:0010396,GeneticAlliance,6269,NA +GARD:0010397,OMIM,608380,Exact +GARD:0010397,UMLS,C1842127,NA +GARD:0010397,GeneticAlliance,6264,NA +GARD:0010397,DiseaseOntology,110368,NA +GARD:0010398,OMIM,601718,Exact +GARD:0010398,GeneticAlliance,6257,NA +GARD:0010398,DiseaseOntology,110354,NA +GARD:0010398,UMLS,C1866422,NA +GARD:0010400,OMIM,610359,Exact +GARD:0010400,DiseaseOntology,110366,NA +GARD:0010400,GeneticAlliance,6271,NA +GARD:0010400,UMLS,C1835895,NA +GARD:0010401,OMIM,607921,Exact +GARD:0010401,GeneticAlliance,6268,NA +GARD:0010401,DiseaseOntology,110406,NA +GARD:0010401,UMLS,C1842816,NA +GARD:0010402,OMIM,610282,Exact +GARD:0010402,GeneticAlliance,6273,NA +GARD:0010402,UMLS,C1853214,NA +GARD:0010402,DiseaseOntology,110357,NA +GARD:0010403,OMIM,610599,Exact +GARD:0010403,GeneticAlliance,6274,NA +GARD:0010403,DiseaseOntology,110405,NA +GARD:0010403,UMLS,C1864621,NA +GARD:0010404,OMIM,613794,Exact +GARD:0010404,UMLS,C3151086,NA +GARD:0010404,DiseaseOntology,110353,NA +GARD:0010404,GeneticAlliance,6259,NA +GARD:0010405,OMIM,613731,Exact +GARD:0010405,UMLS,C3151001,NA +GARD:0010405,DiseaseOntology,110372,NA +GARD:0010405,GeneticAlliance,6275,NA +GARD:0010407,SNOMED-CT,773663004,NA +GARD:0010407,Orphanet,293987,Exact +GARD:0010407,ICD-10,E66.8,NTBT +GARD:0010411,Orphanet,370396,Exact +GARD:0010411,ICD-10,C56,NTBT +GARD:0010411,SNOMED-CT,770601003,NA +GARD:0010413,SNOMED-CT,765330003,NA +GARD:0010413,Orphanet,730,Exact +GARD:0010413,OMIM,613095,BTNT +GARD:0010413,ICD-10,Q61.2,Exact +GARD:0010413,OMIM,173900,BTNT +GARD:0010413,OMIM,600666,BTNT +GARD:0010413,ICD-11,GB81,Exact +GARD:0010414,Orphanet,329984,Exact +GARD:0010414,ICD-10,C18.1,NTBT +GARD:0010414,UMLS,C0205695,Exact +GARD:0010416,Orphanet,391665,Exact +GARD:0010416,OMIM,144010,BTNT +GARD:0010416,UMLS,C0342881,Exact +GARD:0010416,SNOMED-CT,238078005,NA +GARD:0010416,OMIM,602247,BTNT +GARD:0010416,OMIM,143890,NTBT +GARD:0010416,OMIM,603813,BTNT +GARD:0010416,ICD-10,E78.0,NTBT +GARD:0010417,Orphanet,465508,Exact +GARD:0010417,ICD-10,E83.1,NTBT +GARD:0010417,OMIM,235200,NTBT +GARD:0010418,SNOMED-CT,90935002,NA +GARD:0010418,Orphanet,448,Exact +GARD:0010418,UMLS,C0684275,Exact +GARD:0010418,MedDRA,10061992,Exact +GARD:0010419,Orphanet,206647,Exact +GARD:0010419,UMLS,C0027126,Exact +GARD:0010419,MedDRA,10068871,Exact +GARD:0010419,ICD-11,8C71.0,Exact +GARD:0010419,UMLS,C0410226,Exact +GARD:0010419,MeSH,D009223,Exact +GARD:0010419,ICD-10,G71.1,NTBT +GARD:0010423,Orphanet,35656,Exact +GARD:0010423,ICD-11,5C53.22,Exact +GARD:0010423,UMLS,C1843920,Exact +GARD:0010424,SNOMED-CT,703219008,NA +GARD:0010424,Orphanet,199354,Exact +GARD:0010424,OMIM,600142,Exact +GARD:0010424,UMLS,C1838577,Exact +GARD:0010424,ICD-10,I67.8,NTBT +GARD:0010424,ICD-11,8B22.C1,Exact +GARD:0010427,SNOMED-CT,239007005,NA +GARD:0010427,Orphanet,181,Exact +GARD:0010427,OMIM,305100,Exact +GARD:0010427,UMLS,C0162359,Exact +GARD:0010427,ICD-10,Q82.4,NTBT +GARD:0010427,MeSH,D053358,Exact +GARD:0010428,Orphanet,441,Exact +GARD:0010428,UMLS,C0393911,Exact +GARD:0010428,ICD-11,8D84,Exact +GARD:0010428,MeSH,D054970,Exact +GARD:0010428,UMLS,C2931939,Exact +GARD:0010428,MeSH,C544351,Exact +GARD:0010428,ICD-10,G90.3,NTBT +GARD:0010428,SNOMED-CT,84438001,NA +GARD:0010429,SNOMED-CT,717264003,NA +GARD:0010429,Orphanet,93304,Exact +GARD:0010429,OMIM,113500,Exact +GARD:0010429,ICD-10,Q76.3,NTBT +GARD:0010429,UMLS,C0432227,Exact +GARD:0010430,SNOMED-CT,230437002,NA +GARD:0010430,Orphanet,33069,Exact +GARD:0010430,UMLS,C0751122,Exact +GARD:0010430,ICD-10,G40.4,NTBT +GARD:0010430,OMIM,615744,BTNT +GARD:0010430,OMIM,607208,Exact +GARD:0010430,OMIM,612164,BTNT +GARD:0010430,ICD-11,8A61.11,Exact +GARD:0010432,OMIM,600919,Exact +GARD:0010432,DiseaseOntology,111700,NA +GARD:0010432,SNOMED-CT,764457005,NA +GARD:0010432,UMLS,C1970119,NA +GARD:0010432,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome,NA +GARD:0010432,GeneticAlliance,"43,027,891",NA +GARD:0010432,UMLS,C1833154,NA +GARD:0010433,OMIM,613695,Exact +GARD:0010433,DiseaseOntology,110647,NA +GARD:0010433,UMLS,C3279092,NA +GARD:0010433,GeneticAlliance,4303,NA +GARD:0010433,UMLS,C1867904,NA +GARD:0010434,OMIM,613693,Exact +GARD:0010434,UMLS,C3276241,NA +GARD:0010434,DiseaseOntology,110648,NA +GARD:0010434,GeneticAlliance,4304,NA +GARD:0010434,UMLS,C3150953,NA +GARD:0010435,OMIM,611818,Exact +GARD:0010435,UMLS,C2678485,NA +GARD:0010435,DiseaseOntology,110650,NA +GARD:0010435,GeneticAlliance,4306,NA +GARD:0010436,OMIM,611819,Exact +GARD:0010436,UMLS,C2678484,NA +GARD:0010436,GeneticAlliance,4298,NA +GARD:0010436,UMLS,C4013560,NA +GARD:0010436,DiseaseOntology,110651,NA +GARD:0010437,OMIM,611820,Exact +GARD:0010437,UMLS,C2678483,NA +GARD:0010437,DiseaseOntology,110652,NA +GARD:0010437,GeneticAlliance,4299,NA +GARD:0010443,Orphanet,477738,Exact +GARD:0010443,ICD-10,G35,NTBT +GARD:0010445,Orphanet,101028,Exact +GARD:0010445,UMLS,C1291329,Exact +GARD:0010445,OMIM,606003,Exact +GARD:0010445,ICD-10,E74.8,NTBT +GARD:0010445,SNOMED-CT,124252008,NA +GARD:0010453,Orphanet,178509,Exact +GARD:0010453,ICD-10,G31.8,NTBT +GARD:0010453,UMLS,C1868594,Exact +GARD:0010453,OMIM,168605,Exact +GARD:0010453,SNOMED-CT,699184009,NA +GARD:0010457,Orphanet,99885,Exact +GARD:0010457,SNOMED-CT,609565001,NA +GARD:0010457,OMIM,606176,Exact +GARD:0010457,OMIM,618858,BTNT +GARD:0010457,UMLS,C1833104,Exact +GARD:0010457,OMIM,618857,BTNT +GARD:0010457,ICD-10,P70.2,NTBT +GARD:0010457,OMIM,618856,BTNT +GARD:0010460,Orphanet,438274,Exact +GARD:0010460,OMIM,619290,Exact +GARD:0010460,ICD-10,E16.3,NTBT +GARD:0010467,Orphanet,464321,Exact +GARD:0010467,ICD-10,D18.1,NTBT +GARD:0010469,SNOMED-CT,719249005,NA +GARD:0010469,Orphanet,98759,Exact +GARD:0010469,ICD-10,G11.8,NTBT +GARD:0010469,UMLS,C1846707,Exact +GARD:0010469,OMIM,607136,Exact +GARD:0010471,Orphanet,34514,Exact +GARD:0010471,UMLS,C1866008,Exact +GARD:0010471,OMIM,601954,Exact +GARD:0010471,ICD-10,G71.0,NTBT +GARD:0010471,SNOMED-CT,720522001,NA +GARD:0010472,SNOMED-CT,237961001,NA +GARD:0010472,Orphanet,79314,Exact +GARD:0010472,UMLS,C3888081,Exact +GARD:0010472,UMLS,C1855995,Exact +GARD:0010472,ICD-10,E72.8,NTBT +GARD:0010472,OMIM,236792,Exact +GARD:0010474,Orphanet,98761,Exact +GARD:0010474,ICD-10,G11.2,NTBT +GARD:0010474,UMLS,C1963674,Exact +GARD:0010474,OMIM,603516,Exact +GARD:0010474,SNOMED-CT,715754007,NA +GARD:0010475,Orphanet,98767,Exact +GARD:0010475,OMIM,604432,Exact +GARD:0010475,UMLS,C1858351,Exact +GARD:0010475,ICD-10,G11.8,NTBT +GARD:0010475,SNOMED-CT,719207000,NA +GARD:0010476,Orphanet,98762,Exact +GARD:0010476,OMIM,604326,Exact +GARD:0010476,ICD-10,G11.2,NTBT +GARD:0010476,UMLS,C1858501,Exact +GARD:0010476,SNOMED-CT,719208005,NA +GARD:0010477,Orphanet,98769,Exact +GARD:0010477,OMIM,606658,Exact +GARD:0010477,ICD-10,G11.2,NTBT +GARD:0010477,SNOMED-CT,716724006,NA +GARD:0010480,Orphanet,208513,Exact +GARD:0010480,OMIM,117360,Exact +GARD:0010480,UMLS,C1861732,Exact +GARD:0010480,ICD-10,G11.0,NTBT +GARD:0010480,SNOMED-CT,715825009,NA +GARD:0010484,SNOMED-CT,722763000,NA +GARD:0010484,Orphanet,238455,Exact +GARD:0010484,OMIM,613135,Exact +GARD:0010484,ICD-10,G24.8,NTBT +GARD:0010484,UMLS,C2751067,Exact +GARD:0010486,SNOMED-CT,189179009,NA +GARD:0010486,Orphanet,54595,Exact +GARD:0010486,MeSH,D003397,Exact +GARD:0010486,ICD-10,D44.4,Exact +GARD:0010486,UMLS,C0010276,Exact +GARD:0010486,MedDRA,10011318,Exact +GARD:0010486,ICD-11,XH1AZ2,Exact +GARD:0010487,OMIM,611755,Exact +GARD:0010487,DiseaseOntology,110291,NA +GARD:0010487,UMLS,C1857821,NA +GARD:0010488,OMIM,613837,Exact +GARD:0010488,DiseaseOntology,110216,NA +GARD:0010488,UMLS,C1840284,NA +GARD:0010489,OMIM,610612,Exact +GARD:0010489,DiseaseOntology,110080,NA +GARD:0010489,UMLS,C1857743,NA +GARD:0010490,OMIM,613826,Exact +GARD:0010490,UMLS,C1854260,NA +GARD:0010490,DiseaseOntology,110329,NA +GARD:0010491,Orphanet,86897,Exact +GARD:0010491,MeSH,D054752,Exact +GARD:0010491,UMLS,C1260327,Exact +GARD:0010491,ICD-11,2B31.3,Exact +GARD:0010491,ICD-10,C96.4,NTBT +GARD:0010491,SNOMED-CT,724649000,NA +GARD:0010493,SNOMED-CT,721310007,NA +GARD:0010493,Orphanet,86873,Exact +GARD:0010493,UMLS,C1292777,Exact +GARD:0010493,MedDRA,10028811,Exact +GARD:0010493,UMLS,C1522378,Exact +GARD:0010493,ICD-11,2A90.3,Exact +GARD:0010493,ICD-10,C94.7,NTBT +GARD:0010494,Orphanet,70588,Exact +GARD:0010494,UMLS,C0025048,Exact +GARD:0010494,ICD-11,KB26.0,Exact +GARD:0010494,MeSH,D008471,Exact +GARD:0010494,ICD-10,P24.0,Exact +GARD:0010494,SNOMED-CT,206292002,NA +GARD:0010496,OMIM,612577,Exact +GARD:0010496,DiseaseOntology,60202,NA +GARD:0010496,UMLS,C2675491,NA +GARD:0010496,GeneticAlliance,403,NA +GARD:0010498,OMIM,611895,Exact +GARD:0010498,GeneticAlliance,411,NA +GARD:0010498,DiseaseOntology,60200,NA +GARD:0010498,UMLS,C2678468,NA +GARD:0010499,OMIM,608627,Exact +GARD:0010499,GeneticAlliance,410,NA +GARD:0010499,DiseaseOntology,50752,NA +GARD:0010499,UMLS,C1837728,NA +GARD:0010500,OMIM,608031,Exact +GARD:0010500,DiseaseOntology,60199,NA +GARD:0010500,UMLS,C1842674,NA +GARD:0010500,GeneticAlliance,409,NA +GARD:0010501,OMIM,606640,Exact +GARD:0010501,UMLS,C1847735,NA +GARD:0010501,DiseaseOntology,60195,NA +GARD:0010501,GeneticAlliance,405,NA +GARD:0010502,Orphanet,357043,Exact +GARD:0010502,SNOMED-CT,784341001,NA +GARD:0010502,UMLS,C1865409,Exact +GARD:0010502,OMIM,602433,Exact +GARD:0010502,ICD-10,G12.2,NTBT +GARD:0010504,Orphanet,63260,Exact +GARD:0010504,UMLS,C0152426,Exact +GARD:0010504,SNOMED-CT,32219008,NA +GARD:0010504,MedDRA,10011321,Exact +GARD:0010504,ICD-11,LA00.00,Exact +GARD:0010504,ICD-10,Q00.1,Exact +GARD:0010505,SNOMED-CT,400951005,NA +GARD:0010505,Orphanet,98562,Exact +GARD:0010505,ICD-11,LA14.01,Exact +GARD:0010505,UMLS,C0311249,Exact +GARD:0010506,SNOMED-CT,2438005,NA +GARD:0010506,Orphanet,63259,Exact +GARD:0010506,ICD-10,Q00.2,Exact +GARD:0010506,UMLS,C0152234,Exact +GARD:0010506,ICD-11,LA00.1,Exact +GARD:0010506,MedDRA,10022034,Exact +GARD:0010508,Orphanet,89938,Exact +GARD:0010508,OMIM,613090,BTNT +GARD:0010508,OMIM,602522,BTNT +GARD:0010508,ICD-10,E26.8,NTBT +GARD:0010509,Orphanet,79087,Exact +GARD:0010509,ICD-11,EF01.0,Exact +GARD:0010509,ICD-10,E88.1,NTBT +GARD:0010509,SNOMED-CT,75659004,NA +GARD:0010509,OMIM,608709,Exact +GARD:0010509,UMLS,C0220989,Exact +GARD:0010510,SNOMED-CT,230299004,NA +GARD:0010510,Orphanet,248111,Exact +GARD:0010510,OMIM,143100,NTBT +GARD:0010510,ICD-10,G10,NTBT +GARD:0010510,UMLS,C0751208,Exact +GARD:0010511,OMIM,136900,Exact +GARD:0010511,Orphanet,59181,NTBT +GARD:0010511,GeneticAlliance,2965,NA +GARD:0010511,UMLS,C1850938,NA +GARD:0010511,SNOMED-CT,193410003,NA +GARD:0010511,DiseaseOntology,90114,NA +GARD:0010513,Orphanet,171866,Exact +GARD:0010513,OMIM,612813,Exact +GARD:0010513,ICD-10,Q77.7,NTBT +GARD:0010513,SNOMED-CT,719165004,NA +GARD:0010513,UMLS,C2748544,Exact +GARD:0010514,Orphanet,199343,Exact +GARD:0010514,UMLS,C2748572,Exact +GARD:0010514,OMIM,612780,Exact +GARD:0010514,ICD-10,G40.4,NTBT +GARD:0010514,SNOMED-CT,721207002,NA +GARD:0010515,SNOMED-CT,95467005,NA +GARD:0010515,Orphanet,95430,Exact +GARD:0010515,ICD-10,Q32.0,Exact +GARD:0010515,MeSH,C557675,Exact +GARD:0010515,ICD-11,LA73.1,Exact +GARD:0010515,MedDRA,10010654,Exact +GARD:0010515,UMLS,C0392109,Exact +GARD:0010516,Orphanet,210115,Exact +GARD:0010516,ICD-10,D84.8,NTBT +GARD:0010516,OMIM,612852,Exact +GARD:0010516,UMLS,C2748507,Exact +GARD:0010516,SNOMED-CT,773702002,NA +GARD:0010517,OMIM,601499,Exact +GARD:0010517,Orphanet,782,NTBT +GARD:0010517,UMLS,C1832229,NA +GARD:0010517,DiseaseOntology,110121,NA +GARD:0010518,SNOMED-CT,239030004,NA +GARD:0010518,Orphanet,2752,Exact +GARD:0010518,OMIM,258850,Exact +GARD:0010518,UMLS,C0406726,Exact +GARD:0010518,ICD-10,Q87.0,NTBT +GARD:0010520,Orphanet,141007,Exact +GARD:0010520,UMLS,C0796102,Exact +GARD:0010520,OMIM,258865,Exact +GARD:0010520,ICD-10,Q87.0,NTBT +GARD:0010520,SNOMED-CT,718680001,NA +GARD:0010522,SNOMED-CT,773398005,NA +GARD:0010522,Orphanet,330054,Exact +GARD:0010522,UMLS,C2751320,Exact +GARD:0010522,ICD-10,G71.3,NTBT +GARD:0010522,OMIM,613076,Exact +GARD:0010523,Orphanet,317430,Exact +GARD:0010523,ICD-10,D81.8,NTBT +GARD:0010523,OMIM,612783,Exact +GARD:0010524,Orphanet,317428,Exact +GARD:0010524,ICD-10,D81.8,NTBT +GARD:0010524,OMIM,612782,Exact +GARD:0010525,SNOMED-CT,771340007,NA +GARD:0010525,Orphanet,261183,Exact +GARD:0010525,OMIM,615656,Exact +GARD:0010525,UMLS,C3180937,Exact +GARD:0010525,ICD-10,Q93.5,NTBT +GARD:0010526,Orphanet,69083,Exact +GARD:0010526,UMLS,C1832444,Exact +GARD:0010526,OMIM,601345,Exact +GARD:0010526,SNOMED-CT,715576000,NA +GARD:0010528,Orphanet,2025,Exact +GARD:0010528,UMLS,C1856761,Exact +GARD:0010528,ICD-10,Q87.0,NTBT +GARD:0010528,OMIM,228560,Exact +GARD:0010528,SNOMED-CT,719687007,NA +GARD:0010529,Orphanet,593,Exact +GARD:0010529,ICD-10,G71.8,NTBT +GARD:0010529,UMLS,C2678065,Exact +GARD:0010529,ICD-11,8C76,Exact +GARD:0010533,Orphanet,53351,Exact +GARD:0010533,OMIM,314250,Exact +GARD:0010533,UMLS,C1839130,Exact +GARD:0010533,ICD-10,G24.1,NTBT +GARD:0010533,SNOMED-CT,698279003,NA +GARD:0010536,SNOMED-CT,782695002,NA +GARD:0010536,Orphanet,370103,Exact +GARD:0010536,OMIM,612406,Exact +GARD:0010536,ICD-10,G24.1,NTBT +GARD:0010537,Orphanet,98807,Exact +GARD:0010537,SNOMED-CT,719278006,NA +GARD:0010537,ICD-10,G24.1,NTBT +GARD:0010537,UMLS,C1843264,Exact +GARD:0010537,OMIM,607671,Exact +GARD:0010538,Orphanet,171629,Exact +GARD:0010538,OMIM,612319,Exact +GARD:0010538,ICD-10,G11.4,NTBT +GARD:0010538,SNOMED-CT,764688002,NA +GARD:0010539,Orphanet,210571,Exact +GARD:0010539,UMLS,C2677567,Exact +GARD:0010539,OMIM,612067,Exact +GARD:0010539,ICD-10,G24.1,NTBT +GARD:0010539,SNOMED-CT,722435003,NA +GARD:0010541,SNOMED-CT,724072002,NA +GARD:0010541,Orphanet,98811,Exact +GARD:0010541,UMLS,C1842534,Exact +GARD:0010541,ICD-10,G24.8,NTBT +GARD:0010541,OMIM,612126,Exact +GARD:0010544,OMIM,601650,Exact +GARD:0010544,DiseaseOntology,50773,NA +GARD:0010544,UMLS,C1866552,NA +GARD:0010544,GeneticAlliance,5579,NA +GARD:0010545,OMIM,605373,Exact +GARD:0010545,UMLS,C1854336,NA +GARD:0010545,DiseaseOntology,50773,NA +GARD:0010545,GeneticAlliance,5580,NA +GARD:0010546,OMIM,115310,Exact +GARD:0010546,UMLS,C1861848,NA +GARD:0010546,GeneticAlliance,5581,NA +GARD:0010546,DiseaseOntology,50773,NA +GARD:0010556,Orphanet,86870,Exact +GARD:0010556,ICD-10,C86.4,Exact +GARD:0010556,ICD-11,2A60.5,Exact +GARD:0010557,Orphanet,1727,Exact +GARD:0010557,ICD-10,Q92.3,NTBT +GARD:0010557,OMIM,608363,Exact +GARD:0010557,UMLS,C2675369,Exact +GARD:0010557,SNOMED-CT,699311001,NA +GARD:0010559,Orphanet,264665,Exact +GARD:0010560,Orphanet,85445,Exact +GARD:0010560,ICD-11,5D00.1,Exact +GARD:0010560,ICD-10,E85.3,Exact +GARD:0010560,MedDRA,10039811,Exact +GARD:0010560,UMLS,C0221014,Exact +GARD:0010560,SNOMED-CT,274945004,NA +GARD:0010562,Orphanet,137810,Exact +GARD:0010562,UMLS,C0546394,Exact +GARD:0010562,ICD-10,E85.4+,NTBT +GARD:0010562,MedDRA,10056953,Exact +GARD:0010562,ICD-10,L99.0*,NTBT +GARD:0010562,SNOMED-CT,716704007,NA +GARD:0010570,OMIM,263650,Exact +GARD:0010570,UMLS,C1849718,NA +GARD:0010570,SNOMED-CT,722376008,NA +GARD:0010570,GeneticAlliance,5871,NA +GARD:0010570,DiseaseOntology,60055,NA +GARD:0010572,Orphanet,85278,Exact +GARD:0010572,OMIM,300243,Exact +GARD:0010572,UMLS,C1846130,Exact +GARD:0010572,MeSH,C537450,Exact +GARD:0010572,UMLS,C2678194,Exact +GARD:0010572,ICD-10,Q87.8,NTBT +GARD:0010572,SNOMED-CT,702354007,NA +GARD:0010573,Orphanet,488434,Exact +GARD:0010573,OMIM,611929,Exact +GARD:0010574,Orphanet,178333,Exact +GARD:0010574,ICD-10,H35.5,NTBT +GARD:0010574,UMLS,C0268505,Exact +GARD:0010574,OMIM,300600,Exact +GARD:0010574,SNOMED-CT,725168006,NA +GARD:0010578,Orphanet,101089,Exact +GARD:0010578,OMIM,605258,Exact +GARD:0010578,ICD-10,D80.5,NTBT +GARD:0010578,UMLS,C1720956,Exact +GARD:0010579,Orphanet,101090,Exact +GARD:0010579,OMIM,606843,Exact +GARD:0010579,UMLS,C1720957,Exact +GARD:0010579,ICD-10,D80.5,NTBT +GARD:0010580,Orphanet,101091,Exact +GARD:0010580,OMIM,608184,Exact +GARD:0010580,UMLS,C1842413,Exact +GARD:0010580,ICD-10,D80.5,NTBT +GARD:0010581,Orphanet,101092,Exact +GARD:0010581,ICD-10,D80.5,NTBT +GARD:0010581,OMIM,608106,Exact +GARD:0010581,UMLS,C1720958,Exact +GARD:0010582,Orphanet,217017,Exact +GARD:0010582,UMLS,C2752047,Exact +GARD:0010582,ICD-10,Q87.8,NTBT +GARD:0010582,OMIM,612916,Exact +GARD:0010582,SNOMED-CT,773307006,NA +GARD:0010583,SNOMED-CT,724278007,NA +GARD:0010583,Orphanet,59303,Exact +GARD:0010583,UMLS,C1843355,Exact +GARD:0010583,OMIM,607626,Exact +GARD:0010584,Orphanet,85170,Exact +GARD:0010584,OMIM,605274,Exact +GARD:0010584,ICD-10,Q78.8,NTBT +GARD:0010584,UMLS,C1854470,Exact +GARD:0010584,SNOMED-CT,715652002,NA +GARD:0010585,Orphanet,86829,Exact +GARD:0010585,UMLS,C0023481,Exact +GARD:0010585,ICD-10,D47.1,NTBT +GARD:0010585,ICD-11,2A20.1,Exact +GARD:0010585,MeSH,D015467,Exact +GARD:0010585,SNOMED-CT,188734009,NA +GARD:0010586,OMIM,610168,Exact +GARD:0010586,DiseaseOntology,70234,NA +GARD:0010586,UMLS,C2674574,NA +GARD:0010586,GeneticAlliance,4290,NA +GARD:0010587,Orphanet,99027,Exact +GARD:0010587,OMIM,169500,Exact +GARD:0010587,UMLS,C1868512,Exact +GARD:0010587,SNOMED-CT,448054001,NA +GARD:0010587,UMLS,C3164344,Exact +GARD:0010587,ICD-10,E75.2,NTBT +GARD:0010588,OMIM,614816,Exact +GARD:0010588,DiseaseOntology,70233,NA +GARD:0010588,UMLS,C3553762,NA +GARD:0010590,Orphanet,157801,Exact +GARD:0010590,SNOMED-CT,724170007,NA +GARD:0010590,ICD-10,Q70.0,NTBT +GARD:0010590,OMIM,609432,Exact +GARD:0010590,UMLS,C1836206,Exact +GARD:0010590,ICD-10,Q70.2,NTBT +GARD:0010591,Orphanet,250994,Exact +GARD:0010591,ICD-10,Q92.3,NTBT +GARD:0010591,UMLS,C2675891,Exact +GARD:0010591,OMIM,612475,Exact +GARD:0010591,SNOMED-CT,771337007,NA +GARD:0010592,SNOMED-CT,719599008,NA +GARD:0010592,Orphanet,217346,Exact +GARD:0010592,ICD-10,Q93.5,NTBT +GARD:0010592,UMLS,C2751651,Exact +GARD:0010592,OMIM,613026,Exact +GARD:0010593,Orphanet,217371,Exact +GARD:0010593,OMIM,613070,Exact +GARD:0010593,ICD-10,E88.8,NTBT +GARD:0010593,SNOMED-CT,720461006,NA +GARD:0010594,SNOMED-CT,711403001,NA +GARD:0010594,Orphanet,217382,Exact +GARD:0010594,ICD-10,G31.8,NTBT +GARD:0010594,UMLS,C2751584,Exact +GARD:0010594,OMIM,613068,Exact +GARD:0010595,SNOMED-CT,717940006,NA +GARD:0010595,Orphanet,217266,Exact +GARD:0010595,UMLS,C2750433,Exact +GARD:0010595,ICD-10,Q87.8,NTBT +GARD:0010595,OMIM,608980,Exact +GARD:0010597,Orphanet,99429,Exact +GARD:0010597,ICD-10,E34.5,NTBT +GARD:0010597,OMIM,300068,Exact +GARD:0010597,OMIM,300274,BTNT +GARD:0010597,SNOMED-CT,368851000119102,NA +GARD:0010602,Orphanet,95494,Exact +GARD:0010602,OMIM,182230,BTNT +GARD:0010602,OMIM,262600,BTNT +GARD:0010602,OMIM,613986,BTNT +GARD:0010602,ICD-10,E23.0,NTBT +GARD:0010602,OMIM,613038,Exact +GARD:0010602,SNOMED-CT,718182008,NA +GARD:0010603,Orphanet,231720,Exact +GARD:0010603,OMIM,221750,Exact +GARD:0010603,SNOMED-CT,771308008,NA +GARD:0010603,ICD-10,E23.0,NTBT +GARD:0010604,Orphanet,85442,Exact +GARD:0010604,ICD-10,E23.0,NTBT +GARD:0010604,SNOMED-CT,721072003,NA +GARD:0010604,OMIM,262700,Exact +GARD:0010605,SNOMED-CT,720416007,NA +GARD:0010605,Orphanet,63446,Exact +GARD:0010605,UMLS,C1843096,Exact +GARD:0010605,OMIM,607778,Exact +GARD:0010605,ICD-10,Q78.8,NTBT +GARD:0010608,Orphanet,56305,Exact +GARD:0010608,SNOMED-CT,725142004,NA +GARD:0010608,ICD-10,Q78.8,NTBT +GARD:0010608,UMLS,C3668942,Exact +GARD:0010608,OMIM,108721,Exact +GARD:0010609,SNOMED-CT,715625007,NA +GARD:0010609,Orphanet,73273,Exact +GARD:0010609,OMIM,270450,Exact +GARD:0010609,UMLS,C1849157,Exact +GARD:0010609,ICD-10,E34.3,NTBT +GARD:0010611,SNOMED-CT,719166003,NA +GARD:0010611,Orphanet,156728,Exact +GARD:0010611,ICD-10,Q77.7,NTBT +GARD:0010611,UMLS,C1837481,Exact +GARD:0010611,OMIM,608728,Exact +GARD:0010612,SNOMED-CT,783003009,NA +GARD:0010612,Orphanet,1803,Exact +GARD:0010612,UMLS,C1848863,Exact +GARD:0010612,ICD-10,Q77.2,NTBT +GARD:0010612,UMLS,C2931227,Exact +GARD:0010612,OMIM,273740,Exact +GARD:0010614,Orphanet,139399,Exact +GARD:0010614,ICD-10,E71.3,NTBT +GARD:0010614,UMLS,C1527231,Exact +GARD:0010614,OMIM,300100,NTBT +GARD:0010615,OMIM,610655,Exact +GARD:0010615,Orphanet,774,NTBT +GARD:0010615,UMLS,C1857688,NA +GARD:0010615,GeneticAlliance,3360,NA +GARD:0010615,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hereditary-hemorrhagic-telangiectasia,NA +GARD:0010616,SNOMED-CT,766821006,NA +GARD:0010616,Orphanet,93358,Exact +GARD:0010616,UMLS,C1849011,Exact +GARD:0010616,ICD-10,Q77.7,NTBT +GARD:0010616,OMIM,271665,Exact +GARD:0010617,Orphanet,519384,Exact +GARD:0010617,ICD-10,Q11.0,Exact +GARD:0010618,SNOMED-CT,719171005,NA +GARD:0010618,Orphanet,93356,Exact +GARD:0010618,UMLS,C1865832,Exact +GARD:0010618,ICD-10,Q77.7,NTBT +GARD:0010618,OMIM,602111,Exact +GARD:0010619,OMIM,259440,Exact +GARD:0010619,GeneticAlliance,5464,NA +GARD:0010619,DiseaseOntology,110349,NA +GARD:0010619,UMLS,C1850169,NA +GARD:0010620,SNOMED-CT,715862006,NA +GARD:0010620,Orphanet,178355,Exact +GARD:0010620,ICD-10,Q77.7,NTBT +GARD:0010620,OMIM,607326,BTNT +GARD:0010620,OMIM,615222,BTNT +GARD:0010620,UMLS,C1846431,Exact +GARD:0010623,OMIM,216330,Exact +GARD:0010623,GeneticAlliance,1684,NA +GARD:0010623,DiseaseOntology,13994,NA +GARD:0010623,UMLS,C1859080,NA +GARD:0010624,SNOMED-CT,51952004,NA +GARD:0010624,Orphanet,93284,Exact +GARD:0010624,ICD-10,Q77.7,NTBT +GARD:0010624,OMIM,313400,BTNT +GARD:0010624,OMIM,271600,BTNT +GARD:0010624,OMIM,184100,BTNT +GARD:0010625,OMIM,613789,Exact +GARD:0010625,UMLS,C3151080,NA +GARD:0010625,DiseaseOntology,60302,NA +GARD:0010625,GeneticAlliance,1757,NA +GARD:0010626,OMIM,613790,Exact +GARD:0010626,UMLS,C3151081,NA +GARD:0010626,GeneticAlliance,1756,NA +GARD:0010626,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/complement-component-8-deficiency,NA +GARD:0010626,DiseaseOntology,60301,NA +GARD:0010627,Orphanet,73272,Exact +GARD:0010627,ICD-10,E34.3,NTBT +GARD:0010627,UMLS,C1837475,Exact +GARD:0010627,OMIM,608747,Exact +GARD:0010627,SNOMED-CT,724385009,NA +GARD:0010629,Orphanet,163654,Exact +GARD:0010629,UMLS,C2673649,Exact +GARD:0010629,SNOMED-CT,718765003,NA +GARD:0010629,OMIM,611717,Exact +GARD:0010629,ICD-10,Q77.7,NTBT +GARD:0010630,SNOMED-CT,715669000,NA +GARD:0010630,Orphanet,92050,Exact +GARD:0010630,OMIM,613217,Exact +GARD:0010630,ICD-10,P78.3,NTBT +GARD:0010631,SNOMED-CT,189924002,NA +GARD:0010631,Orphanet,251607,Exact +GARD:0010631,UMLS,C0334586,Exact +GARD:0010631,ICD-10,C71.9,NTBT +GARD:0010632,SNOMED-CT,449799008,NA +GARD:0010632,Orphanet,251618,Exact +GARD:0010632,ICD-10,D43.2,NTBT +GARD:0010632,UMLS,C0205768,Exact +GARD:0010633,Orphanet,251643,Exact +GARD:0010633,ICD-10,D43.2,NTBT +GARD:0010633,UMLS,C0205769,Exact +GARD:0010633,SNOMED-CT,1156407001,NA +GARD:0010634,Orphanet,251646,Exact +GARD:0010634,MedDRA,10014968,Exact +GARD:0010634,ICD-10,C71.9,NTBT +GARD:0010634,UMLS,C0280788,Exact +GARD:0010634,SNOMED-CT,1156409003,NA +GARD:0010635,Orphanet,251679,Exact +GARD:0010635,UMLS,C0334587,Exact +GARD:0010635,ICD-10,C71.9,NTBT +GARD:0010635,ICD-11,2A00.4,Exact +GARD:0010635,SNOMED-CT,1157141006,NA +GARD:0010637,Orphanet,251663,Exact +GARD:0010637,UMLS,C0431108,Exact +GARD:0010637,ICD-10,C71.9,NTBT +GARD:0010637,SNOMED-CT,1156410008,NA +GARD:0010638,SNOMED-CT,782680004,NA +GARD:0010638,Orphanet,251937,Exact +GARD:0010638,ICD-10,D36.1,NTBT +GARD:0010639,Orphanet,251957,Exact +GARD:0010639,UMLS,C0431112,Exact +GARD:0010639,ICD-10,D43.0,NTBT +GARD:0010639,SNOMED-CT,1157071000,NA +GARD:0010640,Orphanet,251946,Exact +GARD:0010640,SNOMED-CT,87211000119104,NA +GARD:0010640,UMLS,C1266177,Exact +GARD:0010640,ICD-10,D33.0,NTBT +GARD:0010641,Orphanet,73256,Exact +GARD:0010641,UMLS,C0206719,Exact +GARD:0010641,ICD-11,2A00.3,Exact +GARD:0010641,SNOMED-CT,721535002,NA +GARD:0010642,Orphanet,251931,Exact +GARD:0010642,ICD-10,D33.1,NTBT +GARD:0010642,UMLS,C1370507,Exact +GARD:0010642,SNOMED-CT,716592003,NA +GARD:0010643,Orphanet,97286,Exact +GARD:0010643,ICD-10,D44.8,NTBT +GARD:0010643,OMIM,606864,Exact +GARD:0010643,UMLS,C1847319,Exact +GARD:0010643,SNOMED-CT,722377004,NA +GARD:0010644,Orphanet,251919,Exact +GARD:0010644,ICD-10,D44.5,NTBT +GARD:0010644,SNOMED-CT,715904005,NA +GARD:0010645,Orphanet,93623,Exact +GARD:0010645,OMIM,300555,Exact +GARD:0010645,UMLS,C1845167,Exact +GARD:0010645,ICD-10,N25.8,NTBT +GARD:0010647,SNOMED-CT,719205008,NA +GARD:0010647,Orphanet,85167,Exact +GARD:0010647,ICD-10,Q77.8,NTBT +GARD:0010647,UMLS,C1837073,Exact +GARD:0010647,OMIM,608940,Exact +GARD:0010648,OMIM,610024,Exact +GARD:0010648,DiseaseOntology,81025,NA +GARD:0010648,UMLS,C3552227,NA +GARD:0010648,GeneticAlliance,6240,NA +GARD:0010648,UMLS,C1864900,NA +GARD:0010649,Orphanet,209932,Exact +GARD:0010649,ICD-10,H35.5,NTBT +GARD:0010649,OMIM,610356,Exact +GARD:0010649,SNOMED-CT,719455002,NA +GARD:0010650,OMIM,610478,Exact +GARD:0010650,DiseaseOntology,81023,NA +GARD:0010650,UMLS,C1864849,NA +GARD:0010650,GeneticAlliance,6242,NA +GARD:0010651,OMIM,600624,Exact +GARD:0010651,DiseaseOntology,111009,NA +GARD:0010651,GeneticAlliance,1767,NA +GARD:0010651,UMLS,C1833564,NA +GARD:0010652,OMIM,304020,Exact +GARD:0010652,UMLS,C1844777,NA +GARD:0010652,GeneticAlliance,1773,NA +GARD:0010652,UMLS,C1844776,NA +GARD:0010652,DiseaseOntology,111008,NA +GARD:0010653,OMIM,604116,Exact +GARD:0010653,GeneticAlliance,1769,NA +GARD:0010653,UMLS,C1858806,NA +GARD:0010653,DiseaseOntology,111013,NA +GARD:0010654,OMIM,300476,Exact +GARD:0010654,GeneticAlliance,1775,NA +GARD:0010654,DiseaseOntology,111007,NA +GARD:0010654,UMLS,C1845407,NA +GARD:0010655,OMIM,600977,Exact +GARD:0010655,UMLS,C1832976,NA +GARD:0010655,GeneticAlliance,1770,NA +GARD:0010655,DiseaseOntology,111010,NA +GARD:0010656,OMIM,601777,Exact +GARD:0010656,DiseaseOntology,111011,NA +GARD:0010656,GeneticAlliance,1771,NA +GARD:0010656,UMLS,C1866293,NA +GARD:0010657,OMIM,125851,Exact +GARD:0010657,Orphanet,552,NTBT +GARD:0010657,SNOMED-CT,237604008,NA +GARD:0010657,UMLS,C0342277,NA +GARD:0010657,DiseaseOntology,111100,NA +GARD:0010658,OMIM,600496,Exact +GARD:0010658,Orphanet,552,NTBT +GARD:0010658,UMLS,C1838100,NA +GARD:0010658,GeneticAlliance,4508,NA +GARD:0010658,DiseaseOntology,111102,NA +GARD:0010658,SNOMED-CT,609570008,NA +GARD:0010659,OMIM,606392,Exact +GARD:0010659,Orphanet,552,NTBT +GARD:0010659,SNOMED-CT,609571007,NA +GARD:0010659,GeneticAlliance,4509,NA +GARD:0010659,DiseaseOntology,111103,NA +GARD:0010659,UMLS,C1833382,NA +GARD:0010660,OMIM,606394,Exact +GARD:0010660,Orphanet,552,NTBT +GARD:0010660,DiseaseOntology,111104,NA +GARD:0010660,SNOMED-CT,609573005,NA +GARD:0010660,UMLS,C1853371,NA +GARD:0010660,GeneticAlliance,4511,NA +GARD:0010661,OMIM,610508,Exact +GARD:0010661,Orphanet,552,NTBT +GARD:0010661,DiseaseOntology,111106,NA +GARD:0010661,GeneticAlliance,4512,NA +GARD:0010661,SNOMED-CT,609574004,NA +GARD:0010661,UMLS,C1864839,NA +GARD:0010662,OMIM,609812,Exact +GARD:0010662,Orphanet,552,NTBT +GARD:0010662,GeneticAlliance,4513,NA +GARD:0010662,DiseaseOntology,111105,NA +GARD:0010662,UMLS,C1853297,NA +GARD:0010662,SNOMED-CT,609575003,NA +GARD:0010663,OMIM,612225,Exact +GARD:0010663,Orphanet,552,NTBT +GARD:0010663,UMLS,C2677132,NA +GARD:0010663,GeneticAlliance,4514,NA +GARD:0010663,DiseaseOntology,111107,NA +GARD:0010663,SNOMED-CT,609576002,NA +GARD:0010664,SNOMED-CT,425892007,NA +GARD:0010664,Orphanet,443084,Exact +GARD:0010664,ICD-10,G90.4,NTBT +GARD:0010667,Orphanet,329466,Exact +GARD:0010667,SNOMED-CT,719516000,NA +GARD:0010667,OMIM,615073,Exact +GARD:0010667,ICD-10,G24.1,NTBT +GARD:0010670,Orphanet,309279,Exact +GARD:0010670,ICD-10,E77.9,BTNT +GARD:0010670,ICD-10,E77.1,BTNT +GARD:0010670,ICD-10,E77.0,BTNT +GARD:0010670,ICD-10,E77.8,BTNT +GARD:0010675,Orphanet,85212,Exact +GARD:0010675,OMIM,608013,Exact +GARD:0010675,ICD-10,E75.2,NTBT +GARD:0010675,UMLS,C1842704,Exact +GARD:0010679,Orphanet,88950,Exact +GARD:0010679,ICD-10,Q61.5,NTBT +GARD:0010679,OMIM,162000,Exact +GARD:0010679,SNOMED-CT,723373006,NA +GARD:0010680,SNOMED-CT,56090007,NA +GARD:0010680,Orphanet,94089,Exact +GARD:0010680,MeSH,C548075,Exact +GARD:0010680,ICD-10,E20.1,NTBT +GARD:0010680,UMLS,C1864100,Exact +GARD:0010680,OMIM,603233,Exact +GARD:0010680,UMLS,C2932715,Exact +GARD:0010681,Orphanet,79444,Exact +GARD:0010681,UMLS,C2932716,Exact +GARD:0010681,MeSH,C548076,Exact +GARD:0010681,OMIM,612462,Exact +GARD:0010681,ICD-10,E20.1,NTBT +GARD:0010681,SNOMED-CT,717792007,NA +GARD:0010682,Orphanet,94090,Exact +GARD:0010682,UMLS,C2932717,Exact +GARD:0010682,ICD-10,E20.1,NTBT +GARD:0010682,MeSH,C548077,Exact +GARD:0010682,SNOMED-CT,42183005,NA +GARD:0010682,UMLS,C0271870,Exact +GARD:0010682,OMIM,203330,Exact +GARD:0010684,Orphanet,35689,Exact +GARD:0010684,UMLS,C1968845,Exact +GARD:0010684,OMIM,611637,Exact +GARD:0010684,ICD-10,G12.2,NTBT +GARD:0010684,UMLS,C0154682,Exact +GARD:0010684,ICD-11,8B60.4,Exact +GARD:0010684,SNOMED-CT,81211007,NA +GARD:0010684,MedDRA,10036704,Exact +GARD:0010686,SNOMED-CT,699299001,NA +GARD:0010686,Orphanet,157846,Exact +GARD:0010686,UMLS,C1853578,Exact +GARD:0010686,OMIM,606159,Exact +GARD:0010686,MeSH,C548080,Exact +GARD:0010686,ICD-10,G23.0,NTBT +GARD:0010688,OMIM,610217,Exact +GARD:0010688,UMLS,C1857747,NA +GARD:0010688,DiseaseOntology,110736,NA +GARD:0010688,GeneticAlliance,8997,NA +GARD:0010691,OMIM,617041,Exact +GARD:0010691,Orphanet,233,NTBT +GARD:0010691,UMLS,C4310752,NA +GARD:0010692,SNOMED-CT,52868006,NA +GARD:0010692,Orphanet,140997,Exact +GARD:0010692,ICD-11,LD25.00,Exact +GARD:0010692,UMLS,C0029294,Exact +GARD:0010692,ICD-10,Q87.0,NTBT +GARD:0010693,Orphanet,141327,Exact +GARD:0010693,MeSH,C548034,Exact +GARD:0010693,ICD-10,Q87.0,NTBT +GARD:0010693,UMLS,C2932679,Exact +GARD:0010693,SNOMED-CT,763834000,NA +GARD:0010694,Orphanet,141330,Exact +GARD:0010694,UMLS,C2932680,Exact +GARD:0010694,ICD-10,Q87.0,NTBT +GARD:0010694,MeSH,C548035,Exact +GARD:0010694,SNOMED-CT,763835004,NA +GARD:0010695,Orphanet,99106,Exact +GARD:0010695,UMLS,C0741296,Exact +GARD:0010695,ICD-10,Q21.2,NTBT +GARD:0010695,MeSH,C548006,Exact +GARD:0010696,Orphanet,99105,Exact +GARD:0010696,ICD-10,Q21.1,NTBT +GARD:0010696,ICD-11,LA8E.2,Exact +GARD:0010696,MeSH,C548009,Exact +GARD:0010696,UMLS,C0344730,Exact +GARD:0010696,SNOMED-CT,95268002,NA +GARD:0010697,Orphanet,99104,Exact +GARD:0010697,ICD-10,Q21.1,NTBT +GARD:0010697,UMLS,C0344733,Exact +GARD:0010697,ICD-11,LA8E.3,Exact +GARD:0010698,OMIM,605275,Exact +GARD:0010698,UMLS,C1854469,NA +GARD:0010698,GeneticAlliance,5261,NA +GARD:0010698,DiseaseOntology,60580,NA +GARD:0010699,OMIM,610733,Exact +GARD:0010699,GeneticAlliance,5263,NA +GARD:0010699,UMLS,C1853120,NA +GARD:0010699,DiseaseOntology,60582,NA +GARD:0010700,OMIM,611553,Exact +GARD:0010700,UMLS,C1969057,NA +GARD:0010700,DiseaseOntology,60583,NA +GARD:0010700,GeneticAlliance,5264,NA +GARD:0010701,OMIM,613224,Exact +GARD:0010701,DiseaseOntology,60584,NA +GARD:0010701,GeneticAlliance,5265,NA +GARD:0010701,UMLS,C2750732,NA +GARD:0010704,SNOMED-CT,718610008,NA +GARD:0010704,Orphanet,2254,Exact +GARD:0010704,MeSH,C548069,Exact +GARD:0010704,OMIM,619303,BTNT +GARD:0010704,OMIM,619304,BTNT +GARD:0010704,OMIM,614678,BTNT +GARD:0010704,UMLS,C1843504,Exact +GARD:0010704,OMIM,618065,BTNT +GARD:0010704,OMIM,607596,BTNT +GARD:0010704,OMIM,616081,BTNT +GARD:0010704,ICD-10,Q04.3,NTBT +GARD:0010705,Orphanet,2524,Exact +GARD:0010705,OMIM,612389,BTNT +GARD:0010705,OMIM,612390,BTNT +GARD:0010705,UMLS,C2932714,Exact +GARD:0010705,OMIM,617026,BTNT +GARD:0010705,MeSH,C548070,Exact +GARD:0010705,ICD-10,Q04.3,NTBT +GARD:0010705,OMIM,277470,BTNT +GARD:0010705,OMIM,613811,BTNT +GARD:0010705,SNOMED-CT,715463008,NA +GARD:0010706,SNOMED-CT,702377007,NA +GARD:0010706,Orphanet,309854,Exact +GARD:0010706,ICD-10,E88.8,NTBT +GARD:0010706,OMIM,613280,Exact +GARD:0010706,UMLS,C2750442,Exact +GARD:0010707,Orphanet,90024,Exact +GARD:0010707,UMLS,C2932664,Exact +GARD:0010707,UMLS,C1853144,Exact +GARD:0010707,ICD-10,Q16.5,NTBT +GARD:0010707,MeSH,C548011,Exact +GARD:0010707,OMIM,610706,Exact +GARD:0010708,SNOMED-CT,718609003,NA +GARD:0010708,Orphanet,97249,Exact +GARD:0010708,MeSH,C548072,Exact +GARD:0010708,ICD-10,Q04.3,NTBT +GARD:0010708,OMIM,608027,Exact +GARD:0010708,UMLS,C1842687,Exact +GARD:0010710,Orphanet,166073,Exact +GARD:0010710,OMIM,611523,Exact +GARD:0010710,ICD-10,Q04.3,NTBT +GARD:0010710,MeSH,C548074,Exact +GARD:0010710,SNOMED-CT,718606005,NA +GARD:0010710,UMLS,C1969084,Exact +GARD:0010711,Orphanet,98497,Exact +GARD:0010713,SNOMED-CT,427972000,NA +GARD:0010713,Orphanet,60039,Exact +GARD:0010713,MeSH,D060545,Exact +GARD:0010713,UMLS,C1997249,Exact +GARD:0010713,ICD-10,G57.8,NTBT +GARD:0010713,UMLS,C3178970,Exact +GARD:0010714,SNOMED-CT,703541007,NA +GARD:0010714,Orphanet,137605,Exact +GARD:0010714,ICD-10,Q85.0,NTBT +GARD:0010714,OMIM,611431,Exact +GARD:0010714,UMLS,C1969623,Exact +GARD:0010714,MeSH,C548032,Exact +GARD:0010716,Orphanet,391417,Exact +GARD:0010716,OMIM,300438,Exact +GARD:0010716,ICD-10,E72.8,NTBT +GARD:0010716,UMLS,C1845517,Exact +GARD:0010716,SNOMED-CT,791000124107,NA +GARD:0010719,Orphanet,2701,Exact +GARD:0010719,ICD-10,Q87.1,NTBT +GARD:0010719,SNOMED-CT,723444009,NA +GARD:0010719,OMIM,617506,Exact +GARD:0010719,OMIM,607721,Exact +GARD:0010719,UMLS,C3501846,Exact +GARD:0010726,OMIM,277300,Exact +GARD:0010726,Orphanet,2311,NTBT +GARD:0010726,UMLS,C0265343,NA +GARD:0010726,SNOMED-CT,61367005,NA +GARD:0010726,DiseaseOntology,112365,NA +GARD:0010726,GeneticAlliance,6845,NA +GARD:0010727,Orphanet,96169,Exact +GARD:0010727,UMLS,C1864871,Exact +GARD:0010727,ICD-10,Q87.8,NTBT +GARD:0010727,OMIM,610443,Exact +GARD:0010727,SNOMED-CT,717338006,NA +GARD:0010728,Orphanet,439854,Exact +GARD:0010728,UMLS,C1849813,Exact +GARD:0010728,ICD-10,G73.6*,NTBT +GARD:0010728,OMIM,261740,Exact +GARD:0010728,ICD-10,E74.0+,NTBT +GARD:0010729,Orphanet,77293,Exact +GARD:0010729,UMLS,C0268243,Exact +GARD:0010729,MeSH,D052537,Exact +GARD:0010729,ICD-10,E75.2,NTBT +GARD:0010729,OMIM,607616,Exact +GARD:0010729,SNOMED-CT,39390005,NA +GARD:0010730,Orphanet,79096,Exact +GARD:0010730,ICD-11,8A61.00,Exact +GARD:0010730,OMIM,610090,Exact +GARD:0010730,UMLS,C1864723,Exact +GARD:0010730,ICD-10,G40.8,NTBT +GARD:0010730,SNOMED-CT,124174008,NA +GARD:0010731,SNOMED-CT,724172004,NA +GARD:0010731,Orphanet,59306,Exact +GARD:0010731,UMLS,C0398568,Exact +GARD:0010731,ICD-10,G10,NTBT +GARD:0010731,OMIM,300842,NTBT +GARD:0010732,Orphanet,542310,Exact +GARD:0010732,ICD-10,I67.8,NTBT +GARD:0010732,OMIM,614561,Exact +GARD:0010734,Orphanet,284343,Exact +GARD:0010734,ICD-10,C34.8,NTBT +GARD:0010734,OMIM,601200,NTBT +GARD:0010738,Orphanet,93600,Exact +GARD:0010738,ICD-10,E74.8,NTBT +GARD:0010738,OMIM,613616,Exact +GARD:0010739,Orphanet,216,Exact +GARD:0010739,ICD-11,5C56.1,Exact +GARD:0010739,ICD-10,E75.4,Exact +GARD:0010739,UMLS,C0027877,Exact +GARD:0010739,MeSH,D009472,Exact +GARD:0010739,SNOMED-CT,42012007,NA +GARD:0010740,SNOMED-CT,718227006,NA +GARD:0010740,Orphanet,261197,Exact +GARD:0010740,OMIM,611913,Exact +GARD:0010740,ICD-10,Q93.5,NTBT +GARD:0010741,Orphanet,99642,Exact +GARD:0010741,ICD-10,Q77.7,NTBT +GARD:0010741,OMIM,613343,Exact +GARD:0010741,SNOMED-CT,763885008,NA +GARD:0010744,Orphanet,617910,Exact +GARD:0010752,Orphanet,304,Exact +GARD:0010752,UMLS,C0079298,Exact +GARD:0010752,ICD-11,EC30,Exact +GARD:0010752,ICD-10,Q81.0,Exact +GARD:0010752,SNOMED-CT,67144006,NA +GARD:0010753,SNOMED-CT,39427000,NA +GARD:0010753,Orphanet,2309,Exact +GARD:0010753,OMIM,615726,BTNT +GARD:0010753,OMIM,167210,BTNT +GARD:0010753,OMIM,167200,BTNT +GARD:0010753,ICD-10,Q84.5,NTBT +GARD:0010753,OMIM,615728,BTNT +GARD:0010753,UMLS,C0265334,Exact +GARD:0010753,OMIM,260130,BTNT +GARD:0010753,MeSH,D053549,Exact +GARD:0010754,Orphanet,353281,Exact +GARD:0010754,ICD-10,Q87.2,NTBT +GARD:0010754,OMIM,610543,Exact +GARD:0010755,SNOMED-CT,733473000,NA +GARD:0010755,Orphanet,96078,Exact +GARD:0010755,ICD-10,Q92.3,NTBT +GARD:0010755,OMIM,613458,Exact +GARD:0010756,Orphanet,251,Exact +GARD:0010756,ICD-10,Q77.3,NTBT +GARD:0010756,MedDRA,10028197,Exact +GARD:0010756,ICD-11,LD24.61,Exact +GARD:0010756,UMLS,C0026760,Exact +GARD:0010756,SNOMED-CT,59708000,NA +GARD:0010758,SNOMED-CT,58976002,NA +GARD:0010758,Orphanet,97593,Exact +GARD:0010758,MeSH,D011547,Exact +GARD:0010758,ICD-11,5A50.1,Exact +GARD:0010758,MedDRA,10037126,Exact +GARD:0010758,ICD-10,E20.1,Exact +GARD:0010758,UMLS,C0033806,Exact +GARD:0010760,SNOMED-CT,725027004,NA +GARD:0010760,Orphanet,137625,Exact +GARD:0010760,ICD-10,E74.0,NTBT +GARD:0010760,OMIM,611556,Exact +GARD:0010761,Orphanet,19,Exact +GARD:0010761,ICD-10,E72.8,NTBT +GARD:0010761,UMLS,C2746066,Exact +GARD:0010762,Orphanet,289601,Exact +GARD:0010762,SNOMED-CT,718602007,NA +GARD:0010762,ICD-10,I77.8,NTBT +GARD:0010762,OMIM,211800,Exact +GARD:0010763,OMIM,126800,Exact +GARD:0010763,Orphanet,233,NTBT +GARD:0010763,GeneticAlliance,2334,NA +GARD:0010763,ICD-10-CM,H50.81,NA +GARD:0010763,UMLS,C0013261,NA +GARD:0010763,DiseaseOntology,12557,NA +GARD:0010763,UMLS,C0994516,NA +GARD:0010763,SNOMED-CT,60318001,NA +GARD:0010764,SNOMED-CT,763720007,NA +GARD:0010764,Orphanet,289891,Exact +GARD:0010764,UMLS,C1847720,Exact +GARD:0010764,ICD-10,E72.1,NTBT +GARD:0010764,OMIM,606664,Exact +GARD:0010766,SNOMED-CT,50189006,NA +GARD:0010766,Orphanet,331,Exact +GARD:0010766,OMIM,613235,BTNT +GARD:0010766,ICD-10,D68.2,NTBT +GARD:0010766,UMLS,C0015530,Exact +GARD:0010766,OMIM,613225,BTNT +GARD:0010767,Orphanet,79330,Exact +GARD:0010767,OMIM,606056,Exact +GARD:0010767,UMLS,C1853736,Exact +GARD:0010767,ICD-10,E77.8,NTBT +GARD:0010767,SNOMED-CT,725028009,NA +GARD:0010768,SNOMED-CT,59292006,NA +GARD:0010768,Orphanet,569,Exact +GARD:0010768,OMIM,141500,BTNT +GARD:0010768,OMIM,602481,BTNT +GARD:0010768,OMIM,607516,NTBT +GARD:0010768,ICD-11,8A80.10,Exact +GARD:0010768,OMIM,609634,BTNT +GARD:0010768,ICD-10,G43.1,NTBT +GARD:0010769,SNOMED-CT,764859001,NA +GARD:0010769,Orphanet,59135,Exact +GARD:0010769,OMIM,160500,Exact +GARD:0010769,ICD-10,G71.0,NTBT +GARD:0010771,Orphanet,478,Exact +GARD:0010771,OMIM,615271,BTNT +GARD:0010771,OMIM,618841,BTNT +GARD:0010771,OMIM,147950,NTBT +GARD:0010771,OMIM,612702,BTNT +GARD:0010771,OMIM,615270,BTNT +GARD:0010771,OMIM,615269,BTNT +GARD:0010771,OMIM,610628,BTNT +GARD:0010771,OMIM,612370,BTNT +GARD:0010771,OMIM,614858,BTNT +GARD:0010771,OMIM,614837,BTNT +GARD:0010771,OMIM,614840,BTNT +GARD:0010771,OMIM,614897,BTNT +GARD:0010771,UMLS,C0162809,Exact +GARD:0010771,OMIM,616030,BTNT +GARD:0010771,MedDRA,10053142,Exact +GARD:0010771,OMIM,614880,BTNT +GARD:0010771,MeSH,D017436,Exact +GARD:0010771,OMIM,614838,BTNT +GARD:0010771,OMIM,615266,BTNT +GARD:0010771,ICD-10,E23.0,NTBT +GARD:0010771,OMIM,244200,BTNT +GARD:0010771,OMIM,308700,BTNT +GARD:0010771,OMIM,615267,BTNT +GARD:0010771,SNOMED-CT,93559003,NA +GARD:0010772,OMIM,610628,Exact +GARD:0010772,DiseaseOntology,90077,NA +GARD:0010772,UMLS,C3552343,NA +GARD:0010772,GeneticAlliance,8703,NA +GARD:0010772,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/kallmann-syndrome,NA +GARD:0010773,OMIM,612370,Exact +GARD:0010773,GeneticAlliance,8704,NA +GARD:0010773,DiseaseOntology,90084,NA +GARD:0010773,UMLS,C3552553,NA +GARD:0010774,OMIM,612702,Exact +GARD:0010774,DiseaseOntology,90086,NA +GARD:0010774,UMLS,C3552574,NA +GARD:0010774,GeneticAlliance,8705,NA +GARD:0010775,Orphanet,228426,Exact +GARD:0010775,OMIM,613385,Exact +GARD:0010775,SNOMED-CT,778023004,NA +GARD:0010777,Orphanet,168816,Exact +GARD:0010777,SNOMED-CT,716650003,NA +GARD:0010777,ICD-10,C45.1,NTBT +GARD:0010777,UMLS,C0206680,Exact +GARD:0010778,SNOMED-CT,1144934003,NA +GARD:0010778,Orphanet,169142,Exact +GARD:0010778,OMIM,245480,Exact +GARD:0010778,ICD-10,D71,NTBT +GARD:0010778,OMIM,617475,Exact +GARD:0010779,SNOMED-CT,773688007,NA +GARD:0010779,Orphanet,284448,Exact +GARD:0010779,UMLS,C3854437,Exact +GARD:0010779,ICD-10,G04.8,NTBT +GARD:0010780,Orphanet,617916,Exact +GARD:0010781,Orphanet,53540,Exact +GARD:0010781,ICD-10,H35.5,NTBT +GARD:0010781,UMLS,C1849394,Exact +GARD:0010781,OMIM,268100,Exact +GARD:0010781,UMLS,C0339541,Exact +GARD:0010781,SNOMED-CT,232065000,NA +GARD:0010782,Orphanet,828,Exact +GARD:0010782,SNOMED-CT,78675000,NA +GARD:0010782,OMIM,604841,BTNT +GARD:0010782,MedDRA,10063402,Exact +GARD:0010782,UMLS,C0265253,Exact +GARD:0010782,OMIM,108300,BTNT +GARD:0010782,OMIM,614134,BTNT +GARD:0010782,MeSH,C537492,Exact +GARD:0010782,OMIM,614284,BTNT +GARD:0010782,OMIM,609508,BTNT +GARD:0010782,ICD-10,Q87.0,NTBT +GARD:0010783,Orphanet,208444,Exact +GARD:0010783,ICD-10,Q04.3,NTBT +GARD:0010784,Orphanet,101070,Exact +GARD:0010784,ICD-10,Q04.3,NTBT +GARD:0010784,OMIM,606854,Exact +GARD:0010784,UMLS,C1847352,Exact +GARD:0010785,Orphanet,208441,Exact +GARD:0010785,OMIM,612691,Exact +GARD:0010785,ICD-10,Q04.3,NTBT +GARD:0010786,Orphanet,208447,Exact +GARD:0010786,ICD-10,Q04.3,NTBT +GARD:0010788,Orphanet,60030,Exact +GARD:0010788,UMLS,C2697932,Exact +GARD:0010788,ICD-10,Q87.4,NTBT +GARD:0010788,OMIM,609192,Exact +GARD:0010788,OMIM,610168,BTNT +GARD:0010788,UMLS,C1836635,Exact +GARD:0010788,SNOMED-CT,446263001,NA +GARD:0010790,SNOMED-CT,80328002,NA +GARD:0010790,Orphanet,1872,Exact +GARD:0010790,OMIM,303700,NTBT +GARD:0010790,OMIM,618555,BTNT +GARD:0010790,OMIM,615860,BTNT +GARD:0010790,OMIM,608194,BTNT +GARD:0010790,OMIM,610283,BTNT +GARD:0010790,OMIM,615374,BTNT +GARD:0010790,OMIM,612775,BTNT +GARD:0010790,OMIM,615163,BTNT +GARD:0010790,OMIM,600977,BTNT +GARD:0010790,OMIM,300476,BTNT +GARD:0010790,OMIM,601777,BTNT +GARD:0010790,OMIM,604116,BTNT +GARD:0010790,OMIM,602093,NTBT +GARD:0010790,OMIM,614500,BTNT +GARD:0010790,OMIM,616502,BTNT +GARD:0010790,OMIM,300834,BTNT +GARD:0010790,OMIM,603649,BTNT +GARD:0010790,OMIM,613660,BTNT +GARD:0010790,OMIM,610478,BTNT +GARD:0010790,ICD-10,H35.5,NTBT +GARD:0010790,OMIM,604393,NTBT +GARD:0010790,OMIM,610381,BTNT +GARD:0010790,OMIM,304020,BTNT +GARD:0010790,OMIM,615973,BTNT +GARD:0010790,OMIM,600624,BTNT +GARD:0010790,OMIM,612657,BTNT +GARD:0010790,OMIM,605549,BTNT +GARD:0010790,OMIM,120970,Exact +GARD:0010791,Orphanet,250831,Exact +GARD:0010791,ICD-10,G31.0,NTBT +GARD:0010791,SNOMED-CT,716380002,NA +GARD:0010792,Orphanet,100069,Exact +GARD:0010792,OMIM,172700,NTBT +GARD:0010792,ICD-10,G31.0,NTBT +GARD:0010792,OMIM,600274,NTBT +GARD:0010792,UMLS,C0338462,Exact +GARD:0010792,SNOMED-CT,230288001,NA +GARD:0010793,Orphanet,100070,Exact +GARD:0010793,OMIM,607485,NTBT +GARD:0010793,OMIM,600274,NTBT +GARD:0010793,SNOMED-CT,716281000,NA +GARD:0010793,UMLS,C0751706,Exact +GARD:0010793,OMIM,172700,NTBT +GARD:0010793,MeSH,D057178,Exact +GARD:0010793,MedDRA,10029542,Exact +GARD:0010793,ICD-10,G31.0,NTBT +GARD:0010794,SNOMED-CT,443094001,NA +GARD:0010794,Orphanet,157835,Exact +GARD:0010794,ICD-10,G44.0,NTBT +GARD:0010794,MedDRA,10019461,Exact +GARD:0010794,UMLS,C1399352,Exact +GARD:0010794,MeSH,D051302,Exact +GARD:0010795,Orphanet,443070,Exact +GARD:0010795,ICD-10,G44.0,NTBT +GARD:0010795,SNOMED-CT,443095000,NA +GARD:0010796,Orphanet,276429,Exact +GARD:0010796,ICD-10,G44.8,NTBT +GARD:0010796,UMLS,C0752150,Exact +GARD:0010796,SNOMED-CT,122711000119109,NA +GARD:0010801,Orphanet,34149,Exact +GARD:0010801,ICD-10,Q61.5,Exact +GARD:0010801,ICD-11,GB82,Exact +GARD:0010801,OMIM,609886,BTNT +GARD:0010801,OMIM,162000,BTNT +GARD:0010801,OMIM,174000,BTNT +GARD:0010801,SNOMED-CT,726018006,NA +GARD:0010803,SNOMED-CT,205550003,NA +GARD:0010803,Orphanet,313,Exact +GARD:0010803,MedDRA,10023686,Exact +GARD:0010803,MeSH,D017490,Exact +GARD:0010803,ICD-10,Q80.2,Exact +GARD:0010803,OMIM,606545,BTNT +GARD:0010803,OMIM,242300,NTBT +GARD:0010803,OMIM,604777,BTNT +GARD:0010803,OMIM,601277,BTNT +GARD:0010803,OMIM,612281,BTNT +GARD:0010803,OMIM,617571,BTNT +GARD:0010803,OMIM,613943,BTNT +GARD:0010804,Orphanet,213531,Exact +GARD:0010804,UMLS,C1334708,Exact +GARD:0010804,ICD-10,C50.2,BTNT +GARD:0010804,ICD-10,C50.4,BTNT +GARD:0010804,ICD-10,C50.3,BTNT +GARD:0010804,ICD-10,C50.5,BTNT +GARD:0010804,ICD-10,C50.1,BTNT +GARD:0010804,ICD-10,C50.8,BTNT +GARD:0010804,ICD-10,C50.0,BTNT +GARD:0010804,ICD-10,C50.6,BTNT +GARD:0010804,SNOMED-CT,763479005,NA +GARD:0010805,Orphanet,247798,Exact +GARD:0010805,ICD-10,D12.6,NTBT +GARD:0010805,OMIM,608456,Exact +GARD:0010806,Orphanet,101039,Exact +GARD:0010806,OMIM,300088,Exact +GARD:0010806,UMLS,C1848137,Exact +GARD:0010806,SNOMED-CT,716706009,NA +GARD:0010808,Orphanet,411593,Exact +GARD:0010808,UMLS,C0854359,Exact +GARD:0010808,ICD-10,E16.1,NTBT +GARD:0010808,SNOMED-CT,408539000,NA +GARD:0010809,SNOMED-CT,770903003,NA +GARD:0010809,Orphanet,279947,Exact +GARD:0010809,ICD-10,F52.3,NTBT +GARD:0010810,Orphanet,329308,Exact +GARD:0010810,ICD-10,G23.0,NTBT +GARD:0010810,OMIM,612319,NTBT +GARD:0010810,UMLS,C3668943,Exact +GARD:0010810,SNOMED-CT,702419001,NA +GARD:0010813,SNOMED-CT,699305004,NA +GARD:0010813,Orphanet,250989,Exact +GARD:0010813,ICD-10,Q93.5,NTBT +GARD:0010813,OMIM,612474,Exact +GARD:0010813,UMLS,C2675897,Exact +GARD:0010814,SNOMED-CT,30967002,NA +GARD:0010814,Orphanet,79102,Exact +GARD:0010814,OMIM,614834,BTNT +GARD:0010814,OMIM,188580,BTNT +GARD:0010814,UMLS,C0268446,Exact +GARD:0010814,ICD-10,G72.3,NTBT +GARD:0010814,MedDRA,10043788,Exact +GARD:0010814,OMIM,613239,BTNT +GARD:0010816,Orphanet,254463,Exact +GARD:0010816,ICD-10,L43.8,NTBT +GARD:0010816,UMLS,C0406366,Exact +GARD:0010816,SNOMED-CT,717061002,NA +GARD:0010817,SNOMED-CT,763068005,NA +GARD:0010817,Orphanet,101011,Exact +GARD:0010817,OMIM,610250,Exact +GARD:0010817,ICD-10,G11.4,NTBT +GARD:0010817,UMLS,C1853247,Exact +GARD:0010818,Orphanet,289504,Exact +GARD:0010818,OMIM,614265,Exact +GARD:0010818,ICD-10,E71.1,NTBT +GARD:0010818,UMLS,C3280314,Exact +GARD:0010821,Orphanet,83594,Exact +GARD:0010821,MedDRA,10014587,Exact +GARD:0010821,UMLS,C0153065,Exact +GARD:0010821,ICD-10,A83.2,NTBT +GARD:0010821,ICD-11,1C84,Exact +GARD:0010821,SNOMED-CT,416925005,NA +GARD:0010822,Orphanet,458718,Exact +GARD:0010822,OMIM,122455,Exact +GARD:0010822,ICD-10,I25.4,NTBT +GARD:0010823,SNOMED-CT,702949005,NA +GARD:0010823,Orphanet,71526,Exact +GARD:0010823,OMIM,601665,NTBT +GARD:0010823,UMLS,C1857854,Exact +GARD:0010823,OMIM,609734,Exact +GARD:0010823,ICD-10,E66.8,NTBT +GARD:0010824,SNOMED-CT,720459002,NA +GARD:0010824,Orphanet,189427,Exact +GARD:0010824,ICD-10,E24.8,NTBT +GARD:0010824,OMIM,615954,BTNT +GARD:0010824,OMIM,219080,Exact +GARD:0010828,Orphanet,405,Exact +GARD:0010828,OMIM,600740,BTNT +GARD:0010828,ICD-11,5A51.2,Exact +GARD:0010828,OMIM,145981,BTNT +GARD:0010828,ICD-10,E83.5,NTBT +GARD:0010828,UMLS,C1809471,Exact +GARD:0010828,OMIM,145980,BTNT +GARD:0010828,SNOMED-CT,237885008,NA +GARD:0010829,SNOMED-CT,702378002,NA +GARD:0010829,Orphanet,99880,Exact +GARD:0010829,ICD-10,E21.0,NTBT +GARD:0010829,OMIM,145001,NTBT +GARD:0010829,UMLS,C1704981,Exact +GARD:0010830,SNOMED-CT,48543002,NA +GARD:0010830,Orphanet,263432,Exact +GARD:0010830,UMLS,C0022283,Exact +GARD:0010830,ICD-10,D22.6,NTBT +GARD:0010837,SNOMED-CT,765485000,NA +GARD:0010837,Orphanet,96171,Exact +GARD:0010837,ICD-10,Q93.2,NTBT +GARD:0010839,Orphanet,96172,Exact +GARD:0010839,ICD-10,Q93.2,NTBT +GARD:0010839,SNOMED-CT,765486004,NA +GARD:0010841,Orphanet,251043,Exact +GARD:0010841,ICD-10,Q93.2,NTBT +GARD:0010841,SNOMED-CT,765487008,NA +GARD:0010846,Orphanet,96175,Exact +GARD:0010846,UMLS,C0265444,Exact +GARD:0010846,ICD-10,Q93.2,NTBT +GARD:0010846,SNOMED-CT,111310003,NA +GARD:0010855,Orphanet,96178,Exact +GARD:0010855,ICD-10,Q93.2,NTBT +GARD:0010855,SNOMED-CT,763406004,NA +GARD:0010860,Orphanet,574,Exact +GARD:0010860,UMLS,C0795875,Exact +GARD:0010860,ICD-10,Q93.0,NTBT +GARD:0010860,SNOMED-CT,15841002,NA +GARD:0010865,SNOMED-CT,270889005,NA +GARD:0010865,Orphanet,1600,Exact +GARD:0010865,OMIM,601808,Exact +GARD:0010865,ICD-10,Q93.5,NTBT +GARD:0010865,UMLS,C0432443,Exact +GARD:0010865,UMLS,C2931249,Exact +GARD:0010867,Orphanet,867,Exact +GARD:0010867,OMIM,601606,Exact +GARD:0010867,OMIM,612099,BTNT +GARD:0010867,UMLS,C1275122,Exact +GARD:0010867,MeSH,C536552,Exact +GARD:0010867,ICD-10,D23.3,NTBT +GARD:0010867,SNOMED-CT,403825008,NA +GARD:0010870,SNOMED-CT,278991002,NA +GARD:0010870,Orphanet,834,Exact +GARD:0010870,MedDRA,10067529,Exact +GARD:0010870,OMIM,269920,BTNT +GARD:0010870,MedDRA,10067531,Exact +GARD:0010870,ICD-10,E77.8,NTBT +GARD:0010870,OMIM,604369,BTNT +GARD:0010870,UMLS,C2931872,Exact +GARD:0010870,UMLS,C0342853,Exact +GARD:0010870,MeSH,C538523,Exact +GARD:0010871,Orphanet,309331,Exact +GARD:0010871,ICD-10,E77.8,NTBT +GARD:0010872,Orphanet,3148,Exact +GARD:0010872,ICD-10,C47.9,NTBT +GARD:0010872,UMLS,C0751690,Exact +GARD:0010872,ICD-11,2A02.10,Exact +GARD:0010872,MedDRA,10029236,Exact +GARD:0010872,UMLS,C0206729,Exact +GARD:0010872,SNOMED-CT,404037002,NA +GARD:0010875,Orphanet,450,Exact +GARD:0010875,OMIM,616749,BTNT +GARD:0010875,OMIM,617205,BTNT +GARD:0010875,OMIM,613751,BTNT +GARD:0010875,OMIM,606325,BTNT +GARD:0010875,UMLS,C3178805,Exact +GARD:0010875,OMIM,270100,BTNT +GARD:0010875,OMIM,306955,BTNT +GARD:0010875,MedDRA,10067265,Exact +GARD:0010875,ICD-10,Q89.3,Exact +GARD:0010875,OMIM,601086,BTNT +GARD:0010875,OMIM,614779,BTNT +GARD:0010875,OMIM,605376,BTNT +GARD:0010875,OMIM,618948,BTNT +GARD:0010876,Orphanet,3269,Exact +GARD:0010876,ICD-10,Q74.0,NTBT +GARD:0010876,OMIM,179300,NTBT +GARD:0010876,UMLS,C0431795,Exact +GARD:0010876,ICD-11,LB90.3,Exact +GARD:0010876,UMLS,C0158761,Exact +GARD:0010876,SNOMED-CT,33313004,NA +GARD:0010877,Orphanet,53715,Exact +GARD:0010877,UMLS,C0263628,Exact +GARD:0010877,OMIM,211900,BTNT +GARD:0010877,MedDRA,10059364,Exact +GARD:0010877,ICD-10,M11.2,NTBT +GARD:0010877,SNOMED-CT,61778004,NA +GARD:0010877,OMIM,610455,BTNT +GARD:0010878,Orphanet,306658,Exact +GARD:0010878,ICD-10,M11.2,NTBT +GARD:0010878,OMIM,610455,Exact +GARD:0010878,UMLS,C1864861,Exact +GARD:0010879,Orphanet,306661,Exact +GARD:0010879,ICD-10,M11.2,NTBT +GARD:0010879,OMIM,617993,BTNT +GARD:0010879,OMIM,617994,BTNT +GARD:0010879,OMIM,211900,Exact +GARD:0010880,OMIM,613829,Exact +GARD:0010880,GeneticAlliance,8722,NA +GARD:0010880,DiseaseOntology,110333,NA +GARD:0010880,UMLS,C3151192,NA +GARD:0010881,OMIM,613835,Exact +GARD:0010881,UMLS,C3151202,NA +GARD:0010881,GeneticAlliance,8723,NA +GARD:0010881,DiseaseOntology,110079,NA +GARD:0010882,OMIM,612712,Exact +GARD:0010882,UMLS,C3150208,NA +GARD:0010882,UMLS,C2675186,NA +GARD:0010882,DiseaseOntology,110330,NA +GARD:0010883,OMIM,613341,Exact +GARD:0010883,DiseaseOntology,110188,NA +GARD:0010883,UMLS,C2750063,NA +GARD:0010883,GeneticAlliance,8719,NA +GARD:0010883,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis,NA +GARD:0010884,OMIM,613843,Exact +GARD:0010884,DiseaseOntology,110189,NA +GARD:0010884,GeneticAlliance,8720,NA +GARD:0010884,UMLS,C3151206,NA +GARD:0010885,OMIM,614186,Exact +GARD:0010885,DiseaseOntology,110118,NA +GARD:0010885,UMLS,C3280062,NA +GARD:0010885,GeneticAlliance,8721,NA +GARD:0010886,SNOMED-CT,717055000,NA +GARD:0010886,Orphanet,254492,Exact +GARD:0010886,UMLS,C1274700,Exact +GARD:0010886,ICD-10,L66.1,NTBT +GARD:0010887,Orphanet,488265,Exact +GARD:0010887,OMIM,607278,Exact +GARD:0010889,Orphanet,73229,Exact +GARD:0010889,ICD-10,I99,NTBT +GARD:0010889,OMIM,611773,Exact +GARD:0010889,UMLS,C2673195,Exact +GARD:0010889,SNOMED-CT,702428000,NA +GARD:0010890,Orphanet,141179,Exact +GARD:0010890,ICD-10,D18.0,NTBT +GARD:0010890,UMLS,C1275417,Exact +GARD:0010890,SNOMED-CT,703295003,NA +GARD:0010891,Orphanet,354,Exact +GARD:0010891,UMLS,C0085131,Exact +GARD:0010891,ICD-10,E75.1,NTBT +GARD:0010891,MeSH,D016537,Exact +GARD:0010891,OMIM,230500,BTNT +GARD:0010891,OMIM,230600,BTNT +GARD:0010891,OMIM,230650,BTNT +GARD:0010891,UMLS,C0268271,Exact +GARD:0010891,UMLS,C2718068,Exact +GARD:0010891,SNOMED-CT,238025006,NA +GARD:0010892,Orphanet,293642,Exact +GARD:0010898,Orphanet,98872,Exact +GARD:0010898,ICD-10,D60.0,NTBT +GARD:0010898,SNOMED-CT,765748009,NA +GARD:0010899,Orphanet,52430,Exact +GARD:0010899,OMIM,167320,Exact +GARD:0010899,SNOMED-CT,703544004,NA +GARD:0010899,OMIM,615424,BTNT +GARD:0010899,OMIM,615422,BTNT +GARD:0010899,UMLS,C1833662,Exact +GARD:0010899,ICD-10,G71.8,NTBT +GARD:0010900,Orphanet,26106,Exact +GARD:0010900,UMLS,C1708349,Exact +GARD:0010900,ICD-10,C16.9,ND (not yet decided/unable to decide) +GARD:0010900,OMIM,137215,Exact +GARD:0010900,SNOMED-CT,716859000,NA +GARD:0010902,Orphanet,263440,Exact +GARD:0010902,UMLS,C0393576,Exact +GARD:0010903,SNOMED-CT,254088006,NA +GARD:0010903,Orphanet,1293,Exact +GARD:0010903,MeSH,C537098,Exact +GARD:0010903,ICD-10,Q76.3,NTBT +GARD:0010903,UMLS,C0432228,Exact +GARD:0010905,Orphanet,1775,Exact +GARD:0010905,OMIM,305000,BTNT +GARD:0010905,OMIM,613987,BTNT +GARD:0010905,OMIM,616353,BTNT +GARD:0010905,OMIM,127550,Exact +GARD:0010905,OMIM,613989,BTNT +GARD:0010905,OMIM,224230,BTNT +GARD:0010905,OMIM,613990,BTNT +GARD:0010905,ICD-10,Q82.8,NTBT +GARD:0010905,UMLS,C0265965,Exact +GARD:0010905,MeSH,D019871,Exact +GARD:0010905,OMIM,615190,BTNT +GARD:0010905,OMIM,613988,BTNT +GARD:0010905,MedDRA,10062759,Exact +GARD:0010905,SNOMED-CT,74911008,NA +GARD:0010906,Orphanet,189439,Exact +GARD:0010906,OMIM,610475,BTNT +GARD:0010906,OMIM,614190,BTNT +GARD:0010906,OMIM,615830,BTNT +GARD:0010906,OMIM,610489,BTNT +GARD:0010906,ICD-10,E24.8,NTBT +GARD:0010906,SNOMED-CT,719274008,NA +GARD:0010907,Orphanet,317476,Exact +GARD:0010907,ICD-10,D81.8,NTBT +GARD:0010907,OMIM,300853,Exact +GARD:0010907,SNOMED-CT,711481001,NA +GARD:0010909,Orphanet,99000,Exact +GARD:0010909,OMIM,153840,BTNT +GARD:0010909,OMIM,616151,BTNT +GARD:0010909,UMLS,C1842914,Exact +GARD:0010909,OMIM,608161,Exact +GARD:0010909,ICD-10,H35.5,NTBT +GARD:0010909,OMIM,616152,BTNT +GARD:0010909,SNOMED-CT,232049001,NA +GARD:0010910,Orphanet,57196,Exact +GARD:0010910,ICD-10,M85.3,NTBT +GARD:0010911,Orphanet,103919,Exact +GARD:0010911,UMLS,C2609129,Exact +GARD:0010911,ICD-11,DC33,Exact +GARD:0010911,MedDRA,10069002,Exact +GARD:0010911,SNOMED-CT,448542008,NA +GARD:0010911,ICD-10,K86.1,NTBT +GARD:0010913,Orphanet,381,Exact +GARD:0010913,ICD-10,E70.3,NTBT +GARD:0010913,OMIM,609227,BTNT +GARD:0010913,OMIM,607624,BTNT +GARD:0010913,OMIM,214450,BTNT +GARD:0010913,SNOMED-CT,37548006,NA +GARD:0010914,Orphanet,86820,Exact +GARD:0010914,OMIM,608805,Exact +GARD:0010914,ICD-10,M87.8,NTBT +GARD:0010914,OMIM,617383,Exact +GARD:0010914,SNOMED-CT,715657008,NA +GARD:0010915,Orphanet,2442,Exact +GARD:0010915,ICD-10,D82.3,Exact +GARD:0010915,MedDRA,10068348,Exact +GARD:0010915,UMLS,C0549463,Exact +GARD:0010915,ICD-11,4A01.22,NTBT +GARD:0010915,OMIM,300635,BTNT +GARD:0010915,MeSH,D008232,Exact +GARD:0010915,OMIM,308240,BTNT +GARD:0010916,Orphanet,538934,Exact +GARD:0010916,OMIM,300635,Exact +GARD:0010916,ICD-10,D82.3,NTBT +GARD:0010917,SNOMED-CT,724283004,NA +GARD:0010917,Orphanet,139441,Exact +GARD:0010917,OMIM,617899,BTNT +GARD:0010917,ICD-10,E75.2,NTBT +GARD:0010917,OMIM,612438,BTNT +GARD:0010919,Orphanet,269229,Exact +GARD:0010919,OMIM,614688,Exact +GARD:0010919,ICD-10,Q04.8,NTBT +GARD:0010919,SNOMED-CT,782884005,NA +GARD:0010921,SNOMED-CT,768934004,NA +GARD:0010921,Orphanet,100003,Exact +GARD:0010921,UMLS,C1370658,Exact +GARD:0010921,ICD-10,D36.1,BTNT +GARD:0010922,SNOMED-CT,770908007,NA +GARD:0010922,Orphanet,261534,Exact +GARD:0010922,ICD-10,Q98.8,NTBT +GARD:0010923,Orphanet,308166,Exact +GARD:0010923,ICD-10,Q82.8,NTBT +GARD:0010924,Orphanet,139411,Exact +GARD:0010924,UMLS,C1858592,Exact +GARD:0010924,ICD-10,D44.8,NTBT +GARD:0010924,OMIM,604287,Exact +GARD:0010924,SNOMED-CT,733492003,NA +GARD:0010925,Orphanet,83483,Exact +GARD:0010925,MedDRA,10014584,Exact +GARD:0010925,MeSH,D004670,Exact +GARD:0010925,UMLS,C0014053,Exact +GARD:0010925,ICD-10,A83.5,NTBT +GARD:0010925,SNOMED-CT,61094002,NA +GARD:0010927,Orphanet,208650,Exact +GARD:0010927,MedDRA,10068850,Exact +GARD:0010927,UMLS,C2316212,Exact +GARD:0010927,ICD-10,E85.0,NTBT +GARD:0010927,ICD-11,4A60.1,Exact +GARD:0010927,MeSH,D056587,Exact +GARD:0010927,SNOMED-CT,430079001,NA +GARD:0010929,SNOMED-CT,715140008,NA +GARD:0010929,Orphanet,48372,Exact +GARD:0010929,ICD-10,K76.8,NTBT +GARD:0010929,ICD-11,DB98.2,Exact +GARD:0010933,OMIM,613402,Exact +GARD:0010933,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/microcephaly-seizures-and-developmental-delay,NA +GARD:0010933,UMLS,C3150667,NA +GARD:0010933,DiseaseOntology,80457,NA +GARD:0010933,GeneticAlliance,8338,NA +GARD:0010934,Orphanet,228423,Exact +GARD:0010934,OMIM,614172,Exact +GARD:0010934,ICD-10,D72.8,NTBT +GARD:0010934,SNOMED-CT,778024005,NA +GARD:0010935,Orphanet,261250,Exact +GARD:0010935,ICD-10,Q93.5,NTBT +GARD:0010935,SNOMED-CT,719580004,NA +GARD:0010936,Orphanet,261279,Exact +GARD:0010936,OMIM,613355,Exact +GARD:0010936,ICD-10,Q93.5,NTBT +GARD:0010936,SNOMED-CT,719584008,NA +GARD:0010937,OMIM,613327,Exact +GARD:0010937,GeneticAlliance,8758,NA +GARD:0010937,DiseaseOntology,111138,NA +GARD:0010937,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/congenital-generalized-lipodystrophy,NA +GARD:0010937,UMLS,C2750069,NA +GARD:0010937,SNOMED-CT,1156814008,NA +GARD:0010938,SNOMED-CT,773690008,NA +GARD:0010938,Orphanet,231736,Exact +GARD:0010938,ICD-10,Q15.8,NTBT +GARD:0010939,Orphanet,140944,Exact +GARD:0010939,ICD-10,Q87.3,NTBT +GARD:0010939,OMIM,612918,Exact +GARD:0010939,SNOMED-CT,719475006,NA +GARD:0010940,SNOMED-CT,231903005,NA +GARD:0010940,Orphanet,88633,Exact +GARD:0010940,ICD-10,H16.2,NTBT +GARD:0010940,UMLS,C0339229,Exact +GARD:0010941,SNOMED-CT,410692006,NA +GARD:0010941,Orphanet,280886,Exact +GARD:0010941,ICD-10,H20.1,BTNT +GARD:0010941,ICD-10,H20.0,BTNT +GARD:0010941,UMLS,C0022073,Exact +GARD:0010941,ICD-10,H20.2,BTNT +GARD:0010941,ICD-10,H20.9,BTNT +GARD:0010941,UMLS,C0042165,Exact +GARD:0010941,ICD-10,H20.8,BTNT +GARD:0010941,MedDRA,10002709,Exact +GARD:0010942,Orphanet,238763,Exact +GARD:0010942,OMIM,251750,NTBT +GARD:0010942,ICD-10,Q15.8,NTBT +GARD:0010942,SNOMED-CT,783246000,NA +GARD:0010943,Orphanet,238769,Exact +GARD:0010943,ICD-10,Q93.5,NTBT +GARD:0010943,SNOMED-CT,719649004,NA +GARD:0010944,Orphanet,464443,Exact +GARD:0010944,ICD-10,E77.8,NTBT +GARD:0010944,OMIM,614576,Exact +GARD:0010945,Orphanet,391677,Exact +GARD:0010945,OMIM,614800,Exact +GARD:0010945,ICD-10,Q87.1,NTBT +GARD:0010946,SNOMED-CT,720751000,NA +GARD:0010946,Orphanet,54251,Exact +GARD:0010946,ICD-10,D89.8,NTBT +GARD:0010947,SNOMED-CT,698253007,NA +GARD:0010947,Orphanet,178338,Exact +GARD:0010947,OMIM,614640,BTNT +GARD:0010947,OMIM,600630,BTNT +GARD:0010947,UMLS,C1833561,Exact +GARD:0010947,OMIM,614621,BTNT +GARD:0010948,Orphanet,280379,Exact +GARD:0010948,ICD-10,E80.2,NTBT +GARD:0010948,SNOMED-CT,783615009,NA +GARD:0010949,SNOMED-CT,230496009,NA +GARD:0010949,Orphanet,73267,Exact +GARD:0010949,UMLS,C0751759,Exact +GARD:0010949,ICD-10,G47.2,NTBT +GARD:0010951,Orphanet,158011,Exact +GARD:0010951,UMLS,C1275339,Exact +GARD:0010951,ICD-10,D76.3,NTBT +GARD:0010951,MeSH,D058252,Exact +GARD:0010951,SNOMED-CT,404164003,NA +GARD:0010954,Orphanet,6,Exact +GARD:0010954,OMIM,210200,BTNT +GARD:0010954,ICD-10,E71.1,NTBT +GARD:0010954,OMIM,210210,BTNT +GARD:0010954,MeSH,C535308,Exact +GARD:0010954,UMLS,C0268600,Exact +GARD:0010954,SNOMED-CT,13144005,NA +GARD:0010955,SNOMED-CT,205824006,NA +GARD:0010955,Orphanet,648,Exact +GARD:0010955,OMIM,609942,BTNT +GARD:0010955,OMIM,613706,BTNT +GARD:0010955,UMLS,C0028326,Exact +GARD:0010955,OMIM,615355,BTNT +GARD:0010955,OMIM,610733,BTNT +GARD:0010955,ICD-10,Q87.1,NTBT +GARD:0010955,OMIM,605275,BTNT +GARD:0010955,OMIM,611553,BTNT +GARD:0010955,OMIM,618499,BTNT +GARD:0010955,MedDRA,10029748,Exact +GARD:0010955,OMIM,616564,BTNT +GARD:0010955,ICD-11,LD2F.15,Exact +GARD:0010955,OMIM,613224,BTNT +GARD:0010955,OMIM,618624,BTNT +GARD:0010955,MeSH,D009634,Exact +GARD:0010955,OMIM,616559,BTNT +GARD:0010955,OMIM,163950,Exact +GARD:0010955,OMIM,619087,BTNT +GARD:0010956,Orphanet,331223,Exact +GARD:0010956,ICD-10,D82.4,Exact +GARD:0010956,ICD-11,4A01.34,Exact +GARD:0010956,UMLS,C3887645,Exact +GARD:0010957,Orphanet,209981,Exact +GARD:0010957,OMIM,206200,Exact +GARD:0010957,UMLS,C0085576,Exact +GARD:0010957,ICD-10,D50.8,NTBT +GARD:0010957,SNOMED-CT,722005000,NA +GARD:0010958,Orphanet,55,Exact +GARD:0010958,UMLS,C0078918,Exact +GARD:0010958,ICD-11,EC23.20,Exact +GARD:0010958,MeSH,D016115,Exact +GARD:0010958,ICD-10,E70.3,NTBT +GARD:0010958,SNOMED-CT,63844009,NA +GARD:0010959,Orphanet,314777,Exact +GARD:0010959,OMIM,102200,NTBT +GARD:0010959,UMLS,C1863340,Exact +GARD:0010959,ICD-10,D35.2,NTBT +GARD:0010959,SNOMED-CT,702375004,NA +GARD:0010962,SNOMED-CT,718614004,NA +GARD:0010962,Orphanet,284227,Exact +GARD:0010962,UMLS,C3854394,Exact +GARD:0010962,ICD-10,D75.1,NTBT +GARD:0010964,Orphanet,99921,Exact +GARD:0010964,UMLS,C0867389,Exact +GARD:0010964,MedDRA,10066261,Exact +GARD:0010964,SNOMED-CT,402356004,NA +GARD:0010964,MeSH,D006086,Exact +GARD:0010964,ICD-11,4B24.1,Exact +GARD:0010964,ICD-10,T86.0,NTBT +GARD:0010965,Orphanet,313855,Exact +GARD:0010965,OMIM,614592,Exact +GARD:0010965,SNOMED-CT,778008009,NA +GARD:0010966,Orphanet,85414,Exact +GARD:0010966,UMLS,C0087031,Exact +GARD:0010966,OMIM,604302,Exact +GARD:0010966,UMLS,C1384600,Exact +GARD:0010966,OMIM,618795,BTNT +GARD:0010966,ICD-10,M08.2,Exact +GARD:0010966,ICD-11,FA24.4,Exact +GARD:0010966,SNOMED-CT,201796004,NA +GARD:0010969,Orphanet,85438,Exact +GARD:0010969,UMLS,C3495919,Exact +GARD:0010969,ICD-11,FA24.3,Exact +GARD:0010969,ICD-10,M08.8,NTBT +GARD:0010970,SNOMED-CT,239802003,NA +GARD:0010970,Orphanet,85436,Exact +GARD:0010970,ICD-10,M09.0*,NTBT +GARD:0010970,ICD-11,FA24.2,Exact +GARD:0010970,UMLS,C0409672,Exact +GARD:0010970,ICD-10,L40.5+,NTBT +GARD:0010972,SNOMED-CT,732259001,NA +GARD:0010972,Orphanet,1597,Exact +GARD:0010972,ICD-10,Q93.5,NTBT +GARD:0010973,SNOMED-CT,62009002,NA +GARD:0010973,Orphanet,79262,Exact +GARD:0010973,OMIM,162350,BTNT +GARD:0010973,MeSH,C537950,Exact +GARD:0010973,OMIM,610127,BTNT +GARD:0010973,UMLS,C0022797,Exact +GARD:0010973,OMIM,614706,BTNT +GARD:0010973,ICD-10,E75.4,NTBT +GARD:0010973,OMIM,256730,BTNT +GARD:0010973,UMLS,C2931675,Exact +GARD:0010973,OMIM,601780,BTNT +GARD:0010973,OMIM,204300,BTNT +GARD:0010973,OMIM,615362,BTNT +GARD:0010974,OMIM,609634,Exact +GARD:0010974,Orphanet,569,NTBT +GARD:0010974,DiseaseOntology,111183,NA +GARD:0010974,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-hemiplegic-migraine,NA +GARD:0010974,UMLS,C1864987,NA +GARD:0010974,GeneticAlliance,8380,NA +GARD:0010977,Orphanet,98523,Exact +GARD:0010977,ICD-11,LD20.01,Exact +GARD:0010977,ICD-10,Q04.3,NTBT +GARD:0010980,Orphanet,227982,Exact +GARD:0010980,SNOMED-CT,449731009,NA +GARD:0010980,ICD-10,E31.0,NTBT +GARD:0010980,UMLS,C1535942,Exact +GARD:0010981,SNOMED-CT,702427005,NA +GARD:0010981,Orphanet,313808,Exact +GARD:0010981,UMLS,C3711381,Exact +GARD:0010981,OMIM,221820,Exact +GARD:0010981,ICD-10,E75.2,NTBT +GARD:0010983,Orphanet,79152,Exact +GARD:0010983,OMIM,607728,BTNT +GARD:0010983,OMIM,175900,BTNT +GARD:0010983,OMIM,616631,BTNT +GARD:0010983,OMIM,612353,BTNT +GARD:0010983,UMLS,C0265970,Exact +GARD:0010983,OMIM,614714,BTNT +GARD:0010983,ICD-10,Q82.8,NTBT +GARD:0010983,OMIM,612293,BTNT +GARD:0010983,OMIM,616063,BTNT +GARD:0010983,SNOMED-CT,41495000,NA +GARD:0010984,Orphanet,319552,Exact +GARD:0010984,OMIM,614891,Exact +GARD:0010984,ICD-10,D84.8,NTBT +GARD:0010984,SNOMED-CT,716869006,NA +GARD:0010985,Orphanet,54260,Exact +GARD:0010985,OMIM,613426,NTBT +GARD:0010985,OMIM,615396,BTNT +GARD:0010985,OMIM,601493,NTBT +GARD:0010985,UMLS,C1960469,Exact +GARD:0010985,OMIM,601494,NTBT +GARD:0010985,OMIM,609470,BTNT +GARD:0010985,OMIM,615373,BTNT +GARD:0010985,ICD-10,I42.8,NTBT +GARD:0010985,OMIM,613424,NTBT +GARD:0010985,OMIM,615092,BTNT +GARD:0010985,OMIM,611878,NTBT +GARD:0010985,OMIM,604169,Exact +GARD:0010986,Orphanet,33111,Exact +GARD:0010986,UMLS,C0376407,Exact +GARD:0010986,ICD-10,C84.0,NTBT +GARD:0010986,UMLS,C0457002,Exact +GARD:0010986,SNOMED-CT,277796003,NA +GARD:0010989,SNOMED-CT,773406003,NA +GARD:0010989,Orphanet,363649,Exact +GARD:0010989,OMIM,615381,Exact +GARD:0010989,ICD-10,E34.8,NTBT +GARD:0010991,SNOMED-CT,719597005,NA +GARD:0010991,Orphanet,254346,Exact +GARD:0010991,ICD-10,Q93.5,NTBT +GARD:0010992,Orphanet,254343,Exact +GARD:0010992,SNOMED-CT,784347002,NA +GARD:0010992,OMIM,613672,Exact +GARD:0010992,ICD-10,E88.8,NTBT +GARD:0010994,Orphanet,85201,Exact +GARD:0010994,SNOMED-CT,702367005,NA +GARD:0010994,ICD-10,Q87.8,NTBT +GARD:0010994,UMLS,C1853566,Exact +GARD:0010994,OMIM,606170,Exact +GARD:0010995,SNOMED-CT,770725000,NA +GARD:0010995,Orphanet,402364,Exact +GARD:0010995,OMIM,613668,Exact +GARD:0010995,ICD-10,Q04.3,NTBT +GARD:0010996,Orphanet,319171,Exact +GARD:0010996,ICD-10,Q93.5,NTBT +GARD:0010996,SNOMED-CT,770629000,NA +GARD:0010997,Orphanet,284984,Exact +GARD:0010997,ICD-10,Q87.8,NTBT +GARD:0010997,OMIM,613795,Exact +GARD:0010997,SNOMED-CT,785808002,NA +GARD:0010998,Orphanet,228402,Exact +GARD:0010998,OMIM,156200,NTBT +GARD:0010998,ICD-10,Q93.5,NTBT +GARD:0010998,SNOMED-CT,719657001,NA +GARD:0010999,Orphanet,280763,Exact +GARD:0010999,OMIM,613744,BTNT +GARD:0010999,OMIM,612936,BTNT +GARD:0010999,OMIM,614067,BTNT +GARD:0010999,OMIM,614066,BTNT +GARD:0010999,SNOMED-CT,778011005,NA +GARD:0011000,SNOMED-CT,124178006,NA +GARD:0011000,Orphanet,319651,Exact +GARD:0011000,UMLS,C3151205,Exact +GARD:0011000,ICD-10,D52.8,NTBT +GARD:0011000,OMIM,613839,Exact +GARD:0011003,SNOMED-CT,782738008,NA +GARD:0011003,Orphanet,401996,Exact +GARD:0011003,OMIM,614817,Exact +GARD:0011003,ICD-10,N11.8,NTBT +GARD:0011004,Orphanet,79150,Exact +GARD:0011004,SNOMED-CT,403803002,NA +GARD:0011004,ICD-10,L81.4,NTBT +GARD:0011004,OMIM,614323,Exact +GARD:0011004,UMLS,C1304501,Exact +GARD:0011005,SNOMED-CT,725413002,NA +GARD:0011005,Orphanet,163703,Exact +GARD:0011005,ICD-10,G40.5,NTBT +GARD:0011006,Orphanet,300501,Exact +GARD:0011006,ICD-10,D36.1,NTBT +GARD:0011006,SNOMED-CT,773642001,NA +GARD:0011007,Orphanet,300504,Exact +GARD:0011007,ICD-10,D23.9,NTBT +GARD:0011007,SNOMED-CT,773641008,NA +GARD:0011008,Orphanet,280576,Exact +GARD:0011008,OMIM,614008,Exact +GARD:0011008,ICD-10,E34.8,NTBT +GARD:0011008,SNOMED-CT,773331001,NA +GARD:0011009,Orphanet,280586,Exact +GARD:0011009,OMIM,614078,Exact +GARD:0011009,SNOMED-CT,782882009,NA +GARD:0011010,Orphanet,280598,Exact +GARD:0011010,OMIM,608895,NTBT +GARD:0011010,ICD-10,G60.0,NTBT +GARD:0011010,SNOMED-CT,782881002,NA +GARD:0011011,Orphanet,641,Exact +GARD:0011011,ICD-10,G61.8,NTBT +GARD:0011011,UMLS,C0393847,Exact +GARD:0011011,SNOMED-CT,230591002,NA +GARD:0011855,SNOMED-CT,773624006,NA +GARD:0011855,Orphanet,314422,Exact +GARD:0011855,ICD-10,C41.1,NTBT +GARD:0011855,UMLS,C1314678,Exact +GARD:0011890,Orphanet,79189,Exact +GARD:0011890,ICD-11,5C57.0,Exact +GARD:0011890,UMLS,C1832200,Exact +GARD:0011890,ICD-10,Q87.8,NTBT +GARD:0011890,MeSH,C536664,Exact +GARD:0011892,Orphanet,53721,Exact +GARD:0011892,UMLS,C0346068,Exact +GARD:0011892,SNOMED-CT,254774003,NA +GARD:0011892,ICD-10,Q27.3,NTBT +GARD:0011892,MedDRA,10068841,Exact +GARD:0011893,Orphanet,2457,Exact +GARD:0011893,UMLS,C0432291,Exact +GARD:0011893,ICD-10,Q87.5,NTBT +GARD:0011893,OMIM,608612,BTNT +GARD:0011893,OMIM,248370,BTNT +GARD:0011893,SNOMED-CT,109419009,NA +GARD:0011894,SNOMED-CT,87153008,NA +GARD:0011894,Orphanet,60025,Exact +GARD:0011894,OMIM,265100,Exact +GARD:0011894,MedDRA,10037315,Exact +GARD:0011894,UMLS,C0155912,Exact +GARD:0011894,ICD-11,CB06,Exact +GARD:0011894,ICD-10,J84.0,NTBT +GARD:0011895,SNOMED-CT,231938007,NA +GARD:0011895,Orphanet,137672,Exact +GARD:0011895,ICD-10,H18.7,NTBT +GARD:0011897,SNOMED-CT,267613004,NA +GARD:0011897,Orphanet,1871,Exact +GARD:0011897,ICD-10,H35.5,NTBT +GARD:0011897,OMIM,304030,BTNT +GARD:0011897,OMIM,180020,BTNT +GARD:0011897,UMLS,C0271092,Exact +GARD:0011897,OMIM,602093,BTNT +GARD:0011897,OMIM,613093,BTNT +GARD:0011897,OMIM,300085,BTNT +GARD:0011898,SNOMED-CT,44509000,NA +GARD:0011898,Orphanet,254379,Exact +GARD:0011898,ICD-10,L43.8,NTBT +GARD:0011898,UMLS,C0023650,Exact +GARD:0011899,Orphanet,385,Exact +GARD:0011899,MeSH,C538421,Exact +GARD:0011899,UMLS,C2931845,Exact +GARD:0011899,ICD-10,G23.0,NTBT +GARD:0011901,SNOMED-CT,718555006,NA +GARD:0011901,Orphanet,300605,Exact +GARD:0011901,ICD-10,G12.2,NTBT +GARD:0011901,OMIM,614373,BTNT +GARD:0011901,OMIM,602099,BTNT +GARD:0011901,OMIM,205100,BTNT +GARD:0011902,Orphanet,590,Exact +GARD:0011902,OMIM,616326,BTNT +GARD:0011902,OMIM,610542,BTNT +GARD:0011902,OMIM,616224,BTNT +GARD:0011902,OMIM,616040,BTNT +GARD:0011902,OMIM,616720,BTNT +GARD:0011902,OMIM,608930,BTNT +GARD:0011902,OMIM,617143,BTNT +GARD:0011902,OMIM,608931,BTNT +GARD:0011902,OMIM,614198,BTNT +GARD:0011902,OMIM,616314,BTNT +GARD:0011902,OMIM,254300,BTNT +GARD:0011902,OMIM,616228,BTNT +GARD:0011902,OMIM,616304,BTNT +GARD:0011902,ICD-10,G70.2,Exact +GARD:0011902,OMIM,614750,BTNT +GARD:0011902,OMIM,616227,BTNT +GARD:0011902,OMIM,616322,BTNT +GARD:0011902,OMIM,254190,BTNT +GARD:0011902,UMLS,C0751882,Exact +GARD:0011902,OMIM,616330,BTNT +GARD:0011902,OMIM,254210,BTNT +GARD:0011902,OMIM,601462,BTNT +GARD:0011902,OMIM,616313,BTNT +GARD:0011902,MeSH,D020294,Exact +GARD:0011902,OMIM,617239,BTNT +GARD:0011902,OMIM,603034,BTNT +GARD:0011902,OMIM,616321,BTNT +GARD:0011902,OMIM,616323,BTNT +GARD:0011902,OMIM,615120,BTNT +GARD:0011902,OMIM,616324,BTNT +GARD:0011902,OMIM,616325,BTNT +GARD:0011902,OMIM,605809,BTNT +GARD:0011902,ICD-11,8C61,Exact +GARD:0011903,Orphanet,70593,Exact +GARD:0011903,ICD-10,D80.8,NTBT +GARD:0011903,SNOMED-CT,234557006,NA +GARD:0011904,SNOMED-CT,703533007,NA +GARD:0011904,Orphanet,137667,Exact +GARD:0011904,OMIM,608354,Exact +GARD:0011904,ICD-10,Q27.3,NTBT +GARD:0011904,UMLS,C1842180,Exact +GARD:0011906,Orphanet,171886,Exact +GARD:0011906,ICD-10,G71.2,NTBT +GARD:0011906,SNOMED-CT,764525006,NA +GARD:0011907,SNOMED-CT,109991003,NA +GARD:0011907,Orphanet,86843,Exact +GARD:0011907,ICD-11,2A60.38,Exact +GARD:0011907,MedDRA,10000879,Exact +GARD:0011907,UMLS,C0334674,Exact +GARD:0011907,ICD-10,C94.4,Exact +GARD:0011908,Orphanet,166291,Exact +GARD:0011908,ICD-10,B74.8,NTBT +GARD:0011908,MeSH,D004184,Exact +GARD:0011908,UMLS,C0012602,Exact +GARD:0011908,SNOMED-CT,73328005,NA +GARD:0011910,SNOMED-CT,715633008,NA +GARD:0011910,Orphanet,79474,Exact +GARD:0011910,ICD-10,E34.8,NTBT +GARD:0011911,Orphanet,94064,Exact +GARD:0011911,OMIM,611102,Exact +GARD:0011911,UMLS,C1970187,Exact +GARD:0011911,ICD-10,Q93.5,NTBT +GARD:0011911,SNOMED-CT,700489002,NA +GARD:0011914,SNOMED-CT,697897003,NA +GARD:0011914,Orphanet,275777,Exact +GARD:0011914,UMLS,C0340543,Exact +GARD:0011914,UMLS,C1701939,Exact +GARD:0011914,OMIM,615342,BTNT +GARD:0011914,ICD-10,I27.0,NTBT +GARD:0011914,OMIM,178600,NTBT +GARD:0011915,Orphanet,171881,Exact +GARD:0011915,ICD-10,G71.2,NTBT +GARD:0011915,OMIM,609285,NTBT +GARD:0011915,OMIM,609284,NTBT +GARD:0011915,UMLS,C3710589,Exact +GARD:0011915,SNOMED-CT,703532002,NA +GARD:0011918,Orphanet,98784,Exact +GARD:0011918,OMIM,603204,BTNT +GARD:0011918,OMIM,610353,BTNT +GARD:0011918,OMIM,615005,BTNT +GARD:0011918,OMIM,605375,BTNT +GARD:0011918,UMLS,C3696898,Exact +GARD:0011918,OMIM,600513,BTNT +GARD:0011918,ICD-10,G40.0,NTBT +GARD:0011918,SNOMED-CT,698021005,NA +GARD:0011923,SNOMED-CT,718604008,NA +GARD:0011923,Orphanet,284400,Exact +GARD:0011923,ICD-10,C67.3,BTNT +GARD:0011923,ICD-10,C67.1,BTNT +GARD:0011923,ICD-10,C67.6,BTNT +GARD:0011923,ICD-10,C67.0,BTNT +GARD:0011923,ICD-10,C67.5,BTNT +GARD:0011923,ICD-10,C67.2,BTNT +GARD:0011923,ICD-10,C67.9,BTNT +GARD:0011923,ICD-10,C67.4,BTNT +GARD:0011923,ICD-10,C67.8,BTNT +GARD:0011923,ICD-10,C67.7,BTNT +GARD:0011925,Orphanet,596,Exact +GARD:0011925,UMLS,C0410203,Exact +GARD:0011925,MeSH,C538647,Exact +GARD:0011925,OMIM,310400,Exact +GARD:0011925,ICD-10,G71.2,NTBT +GARD:0011925,SNOMED-CT,46804001,NA +GARD:0011927,Orphanet,456318,Exact +GARD:0011927,ICD-10,G60.8,NTBT +GARD:0011927,OMIM,614116,Exact +GARD:0011951,Orphanet,780,Exact +GARD:0011951,OMIM,268220,BTNT +GARD:0011951,OMIM,268210,BTNT +GARD:0011951,UMLS,C0035412,Exact +GARD:0011951,MeSH,D012208,Exact +GARD:0011951,MedDRA,10039022,Exact +GARD:0011951,ICD-10,C49.9,NTBT +GARD:0011951,SNOMED-CT,302847003,NA +GARD:0011953,Orphanet,547,Exact +GARD:0011953,MedDRA,10029547,Exact +GARD:0011953,OMIM,605027,BTNT +GARD:0011953,MeSH,D008228,Exact +GARD:0011953,UMLS,C0024305,Exact +GARD:0011953,SNOMED-CT,118601006,NA +GARD:0011962,Orphanet,98306,Exact +GARD:0011962,ICD-10,E88.1,NTBT +GARD:0011962,UMLS,C0271694,Exact +GARD:0011962,MeSH,D052496,Exact +GARD:0011962,SNOMED-CT,49292002,NA +GARD:0011971,Orphanet,71273,Exact +GARD:0011971,ICD-10,Q64.8,NTBT +GARD:0011971,MeSH,D059228,Exact +GARD:0011971,UMLS,C3178770,Exact +GARD:0011971,SNOMED-CT,717267005,NA +GARD:0011972,SNOMED-CT,2065009,NA +GARD:0011972,Orphanet,98672,Exact +GARD:0011972,MeSH,D029241,Exact +GARD:0011972,UMLS,C0338508,Exact +GARD:0011972,ICD-10,H47.2,NTBT +GARD:0011973,SNOMED-CT,413537009,NA +GARD:0011973,Orphanet,86886,Exact +GARD:0011973,ICD-11,2A90.9,Exact +GARD:0011973,MedDRA,10002449,Exact +GARD:0011973,ICD-10,C86.5,Exact +GARD:0011973,UMLS,C0020981,Exact +GARD:0011974,Orphanet,65286,Exact +GARD:0011974,UMLS,C2674949,Exact +GARD:0011974,ICD-10,Q93.5,NTBT +GARD:0011974,OMIM,609425,Exact +GARD:0011974,SNOMED-CT,716456000,NA +GARD:0011979,Orphanet,622014,Exact +GARD:0011980,SNOMED-CT,702379005,NA +GARD:0011980,Orphanet,85163,Exact +GARD:0011980,OMIM,610532,Exact +GARD:0011980,ICD-10,G37.8,NTBT +GARD:0011980,UMLS,C1864663,Exact +GARD:0011982,SNOMED-CT,80321008,NA +GARD:0011982,Orphanet,54370,Exact +GARD:0011982,MedDRA,10018370,Exact +GARD:0011982,OMIM,305800,BTNT +GARD:0011982,OMIM,614809,BTNT +GARD:0011982,ICD-10,N03.5,NTBT +GARD:0011982,MeSH,D015432,Exact +GARD:0011982,OMIM,615008,BTNT +GARD:0011982,OMIM,609814,BTNT +GARD:0011982,UMLS,C0017662,Exact +GARD:0011983,Orphanet,397596,Exact +GARD:0011983,OMIM,616005,BTNT +GARD:0011983,OMIM,615513,BTNT +GARD:0011983,UMLS,C3714976,Exact +GARD:0011983,SNOMED-CT,711480000,NA +GARD:0011983,ICD-10,D81.8,NTBT +GARD:0011984,Orphanet,29072,Exact +GARD:0011984,OMIM,601650,BTNT +GARD:0011984,ICD-10,C75.5,NTBT +GARD:0011984,OMIM,614165,BTNT +GARD:0011984,ICD-10,D35.6,NTBT +GARD:0011984,OMIM,605373,BTNT +GARD:0011984,ICD-10,C74.1,NTBT +GARD:0011984,OMIM,168000,BTNT +GARD:0011984,OMIM,618475,BTNT +GARD:0011984,OMIM,115310,BTNT +GARD:0011984,OMIM,618464,BTNT +GARD:0011984,ICD-10,D35.0,NTBT +GARD:0011984,OMIM,171300,BTNT +GARD:0011984,SNOMED-CT,716857003,NA +GARD:0011985,Orphanet,99329,Exact +GARD:0011985,ICD-10,Q98.8,NTBT +GARD:0011985,SNOMED-CT,733625003,NA +GARD:0011992,SNOMED-CT,784393004,NA +GARD:0011992,Orphanet,306431,Exact +GARD:0011992,ICD-10,D84.8,NTBT +GARD:0012008,Orphanet,141127,Exact +GARD:0012008,OMIM,603569,Exact +GARD:0012008,MeSH,C536975,Exact +GARD:0012008,UMLS,C0265767,Exact +GARD:0012008,ICD-10,Q32.1,NTBT +GARD:0012008,ICD-11,LA73.0,Exact +GARD:0012008,SNOMED-CT,9660004,NA +GARD:0012010,Orphanet,30391,Exact +GARD:0012010,OMIM,210500,Exact +GARD:0012010,MedDRA,10003650,Exact +GARD:0012010,ICD-11,LB20.21,Exact +GARD:0012010,ICD-10,Q44.2,Exact +GARD:0012010,UMLS,C0005411,Exact +GARD:0012010,MeSH,D001656,Exact +GARD:0012010,SNOMED-CT,77480004,NA +GARD:0012011,Orphanet,93114,Exact +GARD:0012011,ICD-10,G60.0,NTBT +GARD:0012011,OMIM,614455,Exact +GARD:0012011,SNOMED-CT,722294004,NA +GARD:0012015,Orphanet,247762,Exact +GARD:0012015,ICD-10,D17.9,NTBT +GARD:0012015,ICD-11,2E80.1,Exact +GARD:0012015,UMLS,C1260965,Exact +GARD:0012015,SNOMED-CT,400102008,NA +GARD:0012016,SNOMED-CT,277530005,NA +GARD:0012016,Orphanet,252050,Exact +GARD:0012016,ICD-10,C70.9,NTBT +GARD:0012027,SNOMED-CT,772992009,NA +GARD:0012027,Orphanet,146,Exact +GARD:0012027,UMLS,C0238463,Exact +GARD:0012027,OMIM,607464,BTNT +GARD:0012027,OMIM,188550,NTBT +GARD:0012027,ICD-10,C73,NTBT +GARD:0012032,Orphanet,95854,Exact +GARD:0012032,ICD-10,Q24.1,Exact +GARD:0012032,MeSH,D007979,Exact +GARD:0012032,ICD-11,LA80.0,Exact +GARD:0012032,UMLS,C0023569,Exact +GARD:0012032,MedDRA,10071015,Exact +GARD:0012032,SNOMED-CT,205769006,NA +GARD:0012033,SNOMED-CT,75072002,NA +GARD:0012033,Orphanet,607,Exact +GARD:0012033,ICD-11,8C72.00,Exact +GARD:0012033,MeSH,D017696,Exact +GARD:0012033,UMLS,C0206157,Exact +GARD:0012033,ICD-10,G71.2,NTBT +GARD:0012036,SNOMED-CT,723306004,NA +GARD:0012036,Orphanet,85162,Exact +GARD:0012036,ICD-10,G60.0,NTBT +GARD:0012048,Orphanet,97567,Exact +GARD:0012048,ICD-10,N03.6,NTBT +GARD:0012048,UMLS,C2242534,Exact +GARD:0012048,UMLS,C0268749,Exact +GARD:0012048,SNOMED-CT,726082003,NA +GARD:0012059,SNOMED-CT,722762005,NA +GARD:0012059,Orphanet,370933,Exact +GARD:0012059,OMIM,609056,Exact +GARD:0012059,ICD-10,E77.8,NTBT +GARD:0012062,Orphanet,420556,Exact +GARD:0012062,ICD-10,H53.8,NTBT +GARD:0012062,SNOMED-CT,771237009,NA +GARD:0012074,SNOMED-CT,1010685005,NA +GARD:0012074,Orphanet,141132,Exact +GARD:0012076,SNOMED-CT,726707004,NA +GARD:0012076,Orphanet,96121,Exact +GARD:0012076,OMIM,609757,Exact +GARD:0012076,ICD-10,Q92.3,NTBT +GARD:0012076,UMLS,C1857844,Exact +GARD:0012085,Orphanet,2542,Exact +GARD:0012085,OMIM,613517,BTNT +GARD:0012085,OMIM,610093,BTNT +GARD:0012085,OMIM,613704,BTNT +GARD:0012085,OMIM,613094,BTNT +GARD:0012085,ICD-10,Q11.0,BTNT +GARD:0012085,OMIM,611038,BTNT +GARD:0012085,OMIM,156850,BTNT +GARD:0012085,OMIM,251600,Exact +GARD:0012085,ICD-10,Q11.2,BTNT +GARD:0012085,ICD-10,Q11.1,BTNT +GARD:0012085,OMIM,615113,BTNT +GARD:0012097,SNOMED-CT,715923003,NA +GARD:0012097,Orphanet,275761,Exact +GARD:0012097,ICD-10,E75.5,NTBT +GARD:0012097,OMIM,278000,Exact +GARD:0012097,UMLS,C2936797,Exact +GARD:0012099,SNOMED-CT,57218003,NA +GARD:0012099,Orphanet,75234,Exact +GARD:0012099,UMLS,C0008384,Exact +GARD:0012099,OMIM,278000,NTBT +GARD:0012099,ICD-10,E75.5,NTBT +GARD:0012107,Orphanet,178469,Exact +GARD:0012107,OMIM,614255,BTNT +GARD:0012107,OMIM,612580,BTNT +GARD:0012107,OMIM,614563,BTNT +GARD:0012107,OMIM,617796,BTNT +GARD:0012107,OMIM,612621,BTNT +GARD:0012107,ICD-10,F70,BTNT +GARD:0012107,OMIM,613970,BTNT +GARD:0012107,OMIM,616393,BTNT +GARD:0012107,OMIM,619188,BTNT +GARD:0012107,OMIM,618095,BTNT +GARD:0012107,OMIM,615828,BTNT +GARD:0012107,ICD-10,F73,BTNT +GARD:0012107,OMIM,614256,BTNT +GARD:0012107,OMIM,614113,BTNT +GARD:0012107,OMIM,156200,BTNT +GARD:0012107,OMIM,617854,BTNT +GARD:0012107,ICD-10,F71,BTNT +GARD:0012107,OMIM,618106,BTNT +GARD:0012107,OMIM,617798,BTNT +GARD:0012107,OMIM,614257,BTNT +GARD:0012107,OMIM,614254,BTNT +GARD:0012107,OMIM,618330,BTNT +GARD:0012107,OMIM,616977,BTNT +GARD:0012107,OMIM,616083,BTNT +GARD:0012107,OMIM,616579,BTNT +GARD:0012107,OMIM,617799,BTNT +GARD:0012107,ICD-10,F72,BTNT +GARD:0012107,OMIM,612581,BTNT +GARD:0012109,Orphanet,33364,Exact +GARD:0012109,OMIM,618546,BTNT +GARD:0012109,MedDRA,10044628,Exact +GARD:0012109,UMLS,C1955934,Exact +GARD:0012109,OMIM,616395,BTNT +GARD:0012109,OMIM,616390,BTNT +GARD:0012109,OMIM,300953,BTNT +GARD:0012109,OMIM,616943,BTNT +GARD:0012109,OMIM,601675,BTNT +GARD:0012109,MeSH,C536559,Exact +GARD:0012109,UMLS,C0740342,Exact +GARD:0012109,ICD-10,L67.8,NTBT +GARD:0012109,OMIM,234050,BTNT +GARD:0012109,MeSH,D054463,Exact +GARD:0012109,SNOMED-CT,723551003,NA +GARD:0012117,Orphanet,2512,Exact +GARD:0012117,OMIM,617983,BTNT +GARD:0012117,OMIM,617090,BTNT +GARD:0012117,OMIM,617914,BTNT +GARD:0012117,OMIM,616051,BTNT +GARD:0012117,OMIM,614852,BTNT +GARD:0012117,OMIM,612703,BTNT +GARD:0012117,OMIM,617800,BTNT +GARD:0012117,OMIM,618179,BTNT +GARD:0012117,OMIM,616402,BTNT +GARD:0012117,OMIM,616681,BTNT +GARD:0012117,OMIM,604317,BTNT +GARD:0012117,OMIM,617985,BTNT +GARD:0012117,UMLS,C3711387,Exact +GARD:0012117,OMIM,603802,BTNT +GARD:0012117,OMIM,618351,BTNT +GARD:0012117,OMIM,616486,BTNT +GARD:0012117,OMIM,608393,BTNT +GARD:0012117,ICD-10,Q02,NTBT +GARD:0012117,OMIM,614673,BTNT +GARD:0012117,OMIM,251200,Exact +GARD:0012117,OMIM,604321,BTNT +GARD:0012117,OMIM,604804,BTNT +GARD:0012117,OMIM,617984,BTNT +GARD:0012117,OMIM,608716,BTNT +GARD:0012117,OMIM,616080,BTNT +GARD:0012117,SNOMED-CT,715981004,NA +GARD:0012123,Orphanet,294975,Exact +GARD:0012123,ICD-11,LB99.4,Exact +GARD:0012123,ICD-10,Q71.1,Exact +GARD:0012123,UMLS,C0031575,Exact +GARD:0012123,SNOMED-CT,78018008,NA +GARD:0012124,Orphanet,158061,Exact +GARD:0012124,MedDRA,10053867,Exact +GARD:0012124,SNOMED-CT,430478003,NA +GARD:0012124,MeSH,D055501,Exact +GARD:0012124,UMLS,C1096155,Exact +GARD:0012124,ICD-10,D69.1,NTBT +GARD:0012125,Orphanet,289666,Exact +GARD:0012125,ICD-10,C83.3,NTBT +GARD:0012125,MedDRA,10065039,Exact +GARD:0012125,ICD-11,2A81.2,Exact +GARD:0012125,UMLS,C3472614,Exact +GARD:0012125,SNOMED-CT,724648008,NA +GARD:0012128,Orphanet,79282,Exact +GARD:0012128,OMIM,277400,Exact +GARD:0012128,ICD-10,D58.8,NTBT +GARD:0012144,Orphanet,255,Exact +GARD:0012144,ICD-10,G24.8,NTBT +GARD:0012144,UMLS,C1851920,Exact +GARD:0012144,MeSH,C538007,Exact +GARD:0012162,Orphanet,97239,Exact +GARD:0012162,ICD-10,G71.2,NTBT +GARD:0012162,UMLS,C0270970,Exact +GARD:0012162,OMIM,300717,BTNT +GARD:0012162,OMIM,300718,BTNT +GARD:0012162,SNOMED-CT,42779002,NA +GARD:0012163,Orphanet,209905,Exact +GARD:0012163,SNOMED-CT,719098007,NA +GARD:0012163,ICD-10,E03.1,NTBT +GARD:0012163,ICD-11,CB04.5,Exact +GARD:0012163,UMLS,C1970269,Exact +GARD:0012163,OMIM,610978,Exact +GARD:0012166,Orphanet,228384,Exact +GARD:0012166,ICD-10,Q93.5,NTBT +GARD:0012166,OMIM,613443,NTBT +GARD:0012166,SNOMED-CT,719661007,NA +GARD:0012173,Orphanet,505652,Exact +GARD:0012173,ICD-10,G40.4,NTBT +GARD:0012173,OMIM,300672,Exact +GARD:0012185,Orphanet,65682,Exact +GARD:0012185,OMIM,243300,BTNT +GARD:0012185,OMIM,605479,BTNT +GARD:0012185,UMLS,C0149841,Exact +GARD:0012185,ICD-10,K83.1,NTBT +GARD:0012185,ICD-11,5C58.04,Exact +GARD:0012185,SNOMED-CT,31155007,NA +GARD:0012199,Orphanet,439212,Exact +GARD:0012199,ICD-10,G71.2,NTBT +GARD:0012199,OMIM,614399,Exact +GARD:0012219,Orphanet,94065,Exact +GARD:0012219,OMIM,613406,NTBT +GARD:0012219,UMLS,C3697269,Exact +GARD:0012219,ICD-10,Q93.5,NTBT +GARD:0012232,Orphanet,284324,Exact +GARD:0012232,OMIM,609270,Exact +GARD:0012232,UMLS,C1836474,Exact +GARD:0012232,ICD-10,G11.1,NTBT +GARD:0012232,SNOMED-CT,785301002,NA +GARD:0012234,SNOMED-CT,725433003,NA +GARD:0012234,Orphanet,88644,Exact +GARD:0012234,UMLS,C1853116,Exact +GARD:0012234,ICD-10,G11.2,NTBT +GARD:0012234,UMLS,C3683483,Exact +GARD:0012234,OMIM,610743,Exact +GARD:0012241,SNOMED-CT,275598004,NA +GARD:0012241,Orphanet,309015,Exact +GARD:0012241,UMLS,C0023817,Exact +GARD:0012241,OMIM,238600,Exact +GARD:0012241,OMIM,144250,BTNT +GARD:0012241,ICD-10,E78.3,NTBT +GARD:0012244,Orphanet,363558,Exact +GARD:0012244,ICD-10,G41.8,NTBT +GARD:0012244,SNOMED-CT,770758009,NA +GARD:0012251,Orphanet,1885,Exact +GARD:0012251,MeSH,C536184,Exact +GARD:0012251,OMIM,225100,BTNT +GARD:0012251,SNOMED-CT,74969002,NA +GARD:0012251,MedDRA,10014145,Exact +GARD:0012251,UMLS,C2746069,Exact +GARD:0012251,OMIM,225200,BTNT +GARD:0012251,MeSH,D004479,Exact +GARD:0012251,ICD-11,LA12.Y,NTBT +GARD:0012251,OMIM,129600,BTNT +GARD:0012251,UMLS,C0013581,Exact +GARD:0012251,UMLS,C1851286,Exact +GARD:0012251,ICD-10,Q12.1,Exact +GARD:0012257,SNOMED-CT,724645006,NA +GARD:0012257,Orphanet,300857,Exact +GARD:0012257,UMLS,C1321547,Exact +GARD:0012257,ICD-10,C83.3,NTBT +GARD:0012264,SNOMED-CT,778060000,NA +GARD:0012264,Orphanet,36383,Exact +GARD:0012264,UMLS,C1843512,Exact +GARD:0012264,UMLS,C2930808,Exact +GARD:0012264,ICD-10,I67.8,NTBT +GARD:0012264,OMIM,175780,NTBT +GARD:0012267,Orphanet,88642,Exact +GARD:0012267,MeSH,D009477,Exact +GARD:0012267,MeSH,D000699,Exact +GARD:0012267,UMLS,C0020075,Exact +GARD:0012267,OMIM,243000,Exact +GARD:0012267,ICD-10,G60.8,NTBT +GARD:0012267,UMLS,C0002768,Exact +GARD:0012280,Orphanet,226298,Exact +GARD:0012280,ICD-10,E03.1,NTBT +GARD:0012280,UMLS,C3665349,Exact +GARD:0012281,Orphanet,435988,Exact +GARD:0012281,OMIM,616201,Exact +GARD:0012281,ICD-10,K59.8,NTBT +GARD:0012291,SNOMED-CT,204036008,NA +GARD:0012291,Orphanet,48471,Exact +GARD:0012291,MeSH,D054082,Exact +GARD:0012291,UMLS,C0266463,Exact +GARD:0012291,ICD-10,Q04.3,NTBT +GARD:0012291,MedDRA,10048911,Exact +GARD:0012299,Orphanet,75374,Exact +GARD:0012299,OMIM,608415,Exact +GARD:0012299,ICD-10,H53.8,NTBT +GARD:0012299,SNOMED-CT,711163009,NA +GARD:0012300,Orphanet,280270,Exact +GARD:0012300,OMIM,260600,BTNT +GARD:0012300,ICD-10,E75.2,NTBT +GARD:0012300,ICD-11,LD90.2,Exact +GARD:0012300,OMIM,612233,BTNT +GARD:0012300,OMIM,608804,BTNT +GARD:0012300,OMIM,300523,BTNT +GARD:0012300,SNOMED-CT,717042001,NA +GARD:0012301,SNOMED-CT,726051002,NA +GARD:0012301,Orphanet,614,Exact +GARD:0012301,MedDRA,10028655,Exact +GARD:0012301,UMLS,C2936781,Exact +GARD:0012301,OMIM,160800,BTNT +GARD:0012301,UMLS,C0027127,Exact +GARD:0012301,ICD-11,8C71.2,Exact +GARD:0012301,MedDRA,10043461,Exact +GARD:0012301,ICD-10,G71.1,NTBT +GARD:0012301,OMIM,255700,BTNT +GARD:0012308,SNOMED-CT,9250002,NA +GARD:0012308,Orphanet,293208,Exact +GARD:0012308,ICD-10,I77.4,Exact +GARD:0012308,ICD-11,BD52.5,Exact +GARD:0012311,Orphanet,53690,Exact +GARD:0012311,ICD-10,E73.0,Exact +GARD:0012311,OMIM,223000,Exact +GARD:0012311,UMLS,C0268179,Exact +GARD:0012311,ICD-11,5C61.61,Exact +GARD:0012311,SNOMED-CT,5388008,NA +GARD:0012312,SNOMED-CT,702384004,NA +GARD:0012312,Orphanet,85173,Exact +GARD:0012312,OMIM,614732,Exact +GARD:0012312,ICD-10,Q87.1,NTBT +GARD:0012312,UMLS,C1846009,Exact +GARD:0012314,SNOMED-CT,722288007,NA +GARD:0012314,Orphanet,391487,Exact +GARD:0012314,ICD-10,K63.9,NTBT +GARD:0012314,OMIM,614162,Exact +GARD:0012315,SNOMED-CT,768846004,NA +GARD:0012315,Orphanet,404454,Exact +GARD:0012315,ICD-10,E77.8,NTBT +GARD:0012315,OMIM,615273,Exact +GARD:0012316,Orphanet,436159,Exact +GARD:0012316,OMIM,616100,Exact +GARD:0012316,ICD-10,D84.8,NTBT +GARD:0012328,SNOMED-CT,128206006,NA +GARD:0012328,Orphanet,64752,Exact +GARD:0012328,MeSH,D000699,Exact +GARD:0012328,UMLS,C0002768,Exact +GARD:0012328,ICD-11,8C21.3,Exact +GARD:0012328,UMLS,C0020075,Exact +GARD:0012328,OMIM,608654,Exact +GARD:0012328,ICD-10,G60.8,NTBT +GARD:0012331,Orphanet,36204,Exact +GARD:0012331,UMLS,C0024215,Exact +GARD:0012331,MeSH,D008201,Exact +GARD:0012331,ICD-10,I89.0,NTBT +GARD:0012331,MedDRA,10025213,Exact +GARD:0012331,ICD-11,BD92.0,Exact +GARD:0012331,SNOMED-CT,197260007,NA +GARD:0012335,Orphanet,213610,Exact +GARD:0012335,ICD-10,C54.9,NTBT +GARD:0012335,SNOMED-CT,764952009,NA +GARD:0012338,Orphanet,859,Exact +GARD:0012338,ICD-10,D51.2,NTBT +GARD:0012338,UMLS,C0342701,Exact +GARD:0012338,OMIM,275350,Exact +GARD:0012338,SNOMED-CT,237934001,NA +GARD:0012344,Orphanet,254367,Exact +GARD:0012344,ICD-10,L43.9,BTNT +GARD:0012344,UMLS,C0023646,Exact +GARD:0012344,ICD-10,L43.3,BTNT +GARD:0012344,ICD-10,L43.0,BTNT +GARD:0012344,ICD-10,L66.1,BTNT +GARD:0012344,ICD-10,L43.2,BTNT +GARD:0012344,ICD-10,L43.1,BTNT +GARD:0012344,ICD-10,L43.8,BTNT +GARD:0012347,Orphanet,38874,Exact +GARD:0012347,ICD-10,E79.8,NTBT +GARD:0012347,UMLS,C0342803,Exact +GARD:0012347,UMLS,C3495551,Exact +GARD:0012347,OMIM,222748,Exact +GARD:0012347,SNOMED-CT,238014002,NA +GARD:0012348,Orphanet,263487,Exact +GARD:0012348,ICD-10,E77.8,NTBT +GARD:0012348,OMIM,613612,Exact +GARD:0012348,SNOMED-CT,721100009,NA +GARD:0012351,OMIM,604370,Exact +GARD:0012351,Orphanet,145,NTBT +GARD:0012351,UMLS,C2676676,NA +GARD:0012351,GeneticAlliance,7865,NA +GARD:0012352,OMIM,612555,Exact +GARD:0012352,Orphanet,145,NTBT +GARD:0012352,GeneticAlliance,7866,NA +GARD:0012352,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/breast-cancer,NA +GARD:0012352,UMLS,C2675520,NA +GARD:0012353,SNOMED-CT,711406009,NA +GARD:0012353,Orphanet,324442,Exact +GARD:0012353,OMIM,137200,Exact +GARD:0012353,ICD-10,G60.0,NTBT +GARD:0012354,Orphanet,93610,Exact +GARD:0012354,ICD-10,N25.8,NTBT +GARD:0012354,OMIM,611590,Exact +GARD:0012354,UMLS,C1969038,Exact +GARD:0012356,OMIM,615582,Exact +GARD:0012356,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome,NA +GARD:0012356,UMLS,C3810012,NA +GARD:0012356,DiseaseOntology,70236,NA +GARD:0012357,Orphanet,425120,Exact +GARD:0012357,ICD-10,M35.8,NTBT +GARD:0012357,OMIM,615934,Exact +GARD:0012357,SNOMED-CT,711164003,NA +GARD:0012360,SNOMED-CT,711161006,NA +GARD:0012360,Orphanet,83642,Exact +GARD:0012360,OMIM,206100,Exact +GARD:0012360,UMLS,C2673913,Exact +GARD:0012360,ICD-10,D50.8,NTBT +GARD:0012362,Orphanet,251274,Exact +GARD:0012362,ICD-10,E26.0,NTBT +GARD:0012362,OMIM,613677,Exact +GARD:0012362,SNOMED-CT,703234002,NA +GARD:0012365,Orphanet,98772,Exact +GARD:0012365,ICD-10,G11.2,NTBT +GARD:0012365,MeSH,C537198,Exact +GARD:0012365,OMIM,607346,Exact +GARD:0012365,UMLS,C1846367,Exact +GARD:0012365,SNOMED-CT,719251009,NA +GARD:0012366,Orphanet,276193,Exact +GARD:0012366,ICD-10,G11.8,NTBT +GARD:0012366,OMIM,613908,Exact +GARD:0012366,SNOMED-CT,719300001,NA +GARD:0012367,SNOMED-CT,711158005,NA +GARD:0012367,Orphanet,276198,Exact +GARD:0012367,OMIM,614153,Exact +GARD:0012367,ICD-10,G11.8,NTBT +GARD:0012368,Orphanet,363710,Exact +GARD:0012368,OMIM,615945,Exact +GARD:0012368,SNOMED-CT,719301002,NA +GARD:0012368,ICD-10,G11.8,NTBT +GARD:0012369,SNOMED-CT,734021001,NA +GARD:0012369,Orphanet,423296,Exact +GARD:0012369,ICD-10,G11.8,NTBT +GARD:0012369,OMIM,615957,Exact +GARD:0012371,SNOMED-CT,734020000,NA +GARD:0012371,Orphanet,423275,Exact +GARD:0012371,ICD-10,G11.8,NTBT +GARD:0012371,OMIM,616053,Exact +GARD:0012372,Orphanet,314404,Exact +GARD:0012372,ICD-10,G11.2,NTBT +GARD:0012372,OMIM,604121,Exact +GARD:0012372,SNOMED-CT,722293005,NA +GARD:0012375,Orphanet,228000,Exact +GARD:0012375,ICD-10,D72.8,NTBT +GARD:0012375,OMIM,615518,Exact +GARD:0012375,SNOMED-CT,763713000,NA +GARD:0012382,Orphanet,168593,Exact +GARD:0012382,UMLS,C1837371,Exact +GARD:0012382,ICD-10,G90.8,NTBT +GARD:0012382,OMIM,608800,Exact +GARD:0012382,SNOMED-CT,711157000,NA +GARD:0012383,SNOMED-CT,770687001,NA +GARD:0012383,Orphanet,404553,Exact +GARD:0012383,OMIM,615688,Exact +GARD:0012383,ICD-10,M30.8,NTBT +GARD:0012384,Orphanet,324561,Exact +GARD:0012384,ICD-10,Q82.8,NTBT +GARD:0012384,OMIM,615522,Exact +GARD:0012384,SNOMED-CT,711154007,NA +GARD:0012385,Orphanet,137893,Exact +GARD:0012385,ICD-10,N46,NTBT +GARD:0012385,UMLS,C0403812,Exact +GARD:0012385,OMIM,243060,Exact +GARD:0012388,Orphanet,370079,Exact +GARD:0012388,SNOMED-CT,765142003,NA +GARD:0012388,OMIM,614671,Exact +GARD:0012388,ICD-10,Q92.3,NTBT +GARD:0012390,Orphanet,37748,Exact +GARD:0012390,MeSH,D019873,Exact +GARD:0012390,UMLS,C0524988,Exact +GARD:0012390,MedDRA,10062908,Exact +GARD:0012390,ICD-10,L50.8,NTBT +GARD:0012390,SNOMED-CT,402415001,NA +GARD:0012391,OMIM,616056,Exact +GARD:0012391,DiseaseOntology,80461,NA +GARD:0012391,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy,NA +GARD:0012391,UMLS,C4015119,NA +GARD:0012393,SNOMED-CT,718712005,NA +GARD:0012393,Orphanet,91131,Exact +GARD:0012393,UMLS,C1835849,Exact +GARD:0012393,ICD-10,E77.8,NTBT +GARD:0012393,OMIM,610768,Exact +GARD:0012394,Orphanet,244310,Exact +GARD:0012394,ICD-10,E77.8,NTBT +GARD:0012394,OMIM,612015,Exact +GARD:0012394,UMLS,C2677590,Exact +GARD:0012394,SNOMED-CT,733084000,NA +GARD:0012395,Orphanet,263494,Exact +GARD:0012395,UMLS,C2752007,Exact +GARD:0012395,ICD-10,E77.8,NTBT +GARD:0012395,OMIM,612937,Exact +GARD:0012395,SNOMED-CT,725044000,NA +GARD:0012396,Orphanet,280071,Exact +GARD:0012396,ICD-10,E77.8,NTBT +GARD:0012396,OMIM,613661,Exact +GARD:0012396,SNOMED-CT,733085004,NA +GARD:0012397,Orphanet,324737,Exact +GARD:0012397,OMIM,612379,Exact +GARD:0012397,ICD-10,E77.8,NTBT +GARD:0012397,UMLS,C3150191,Exact +GARD:0012397,SNOMED-CT,733601006,NA +GARD:0012398,SNOMED-CT,733083006,NA +GARD:0012398,Orphanet,300536,Exact +GARD:0012398,ICD-10,E77.8,NTBT +GARD:0012398,OMIM,614507,Exact +GARD:0012401,SNOMED-CT,733451007,NA +GARD:0012401,Orphanet,324422,Exact +GARD:0012401,ICD-10,E77.8,NTBT +GARD:0012401,OMIM,300884,NTBT +GARD:0012403,Orphanet,356961,Exact +GARD:0012403,ICD-10,E77.8,NTBT +GARD:0012403,OMIM,300896,Exact +GARD:0012403,SNOMED-CT,771516000,NA +GARD:0012404,OMIM,615510,Exact +GARD:0012404,DiseaseOntology,112321,NA +GARD:0012404,SNOMED-CT,763741001,NA +GARD:0012404,UMLS,C4706563,NA +GARD:0012405,SNOMED-CT,733115009,NA +GARD:0012405,Orphanet,370927,Exact +GARD:0012405,ICD-10,E77.8,NTBT +GARD:0012405,OMIM,300934,Exact +GARD:0012409,Orphanet,238459,Exact +GARD:0012409,ICD-10,E77.8,NTBT +GARD:0012409,UMLS,C1970344,Exact +GARD:0012409,OMIM,603585,Exact +GARD:0012409,SNOMED-CT,723624008,NA +GARD:0012411,Orphanet,95428,Exact +GARD:0012411,ICD-10,E77.8,NTBT +GARD:0012411,UMLS,C1970021,Exact +GARD:0012411,OMIM,611182,Exact +GARD:0012411,SNOMED-CT,717774004,NA +GARD:0012412,Orphanet,263501,Exact +GARD:0012412,OMIM,613489,Exact +GARD:0012412,SNOMED-CT,718751000,NA +GARD:0012412,ICD-10,E77.8,NTBT +GARD:0012413,SNOMED-CT,732252005,NA +GARD:0012413,Orphanet,314667,Exact +GARD:0012413,OMIM,614727,Exact +GARD:0012413,ICD-10,E77.8,NTBT +GARD:0012416,Orphanet,329178,Exact +GARD:0012416,ICD-10,E77.8,NTBT +GARD:0012416,OMIM,615042,Exact +GARD:0012416,SNOMED-CT,782772000,NA +GARD:0012417,SNOMED-CT,733450008,NA +GARD:0012417,Orphanet,397941,Exact +GARD:0012417,ICD-10,E77.8,NTBT +GARD:0012421,Orphanet,263775,Exact +GARD:0012421,ICD-10,Q99.8,NTBT +GARD:0012426,Orphanet,1229,Exact +GARD:0012426,OMIM,251290,Exact +GARD:0012426,UMLS,C2931662,Exact +GARD:0012426,UMLS,C3489725,Exact +GARD:0012426,ICD-10,Q87.8,NTBT +GARD:0012426,SNOMED-CT,722390006,NA +GARD:0012428,Orphanet,280779,Exact +GARD:0012428,SNOMED-CT,718634003,NA +GARD:0012429,SNOMED-CT,719515001,NA +GARD:0012429,Orphanet,228174,Exact +GARD:0012429,OMIM,613287,Exact +GARD:0012429,UMLS,C2750090,Exact +GARD:0012429,ICD-10,G60.0,NTBT +GARD:0012431,Orphanet,64746,Exact +GARD:0012431,ICD-10,G60.0,NTBT +GARD:0012431,UMLS,C0270914,Exact +GARD:0012431,SNOMED-CT,1156835005,NA +GARD:0012432,Orphanet,99945,Exact +GARD:0012432,UMLS,C3888087,Exact +GARD:0012432,OMIM,608673,Exact +GARD:0012432,ICD-10,G60.0,NTBT +GARD:0012432,SNOMED-CT,719513008,NA +GARD:0012433,Orphanet,65753,Exact +GARD:0012433,UMLS,C0751036,Exact +GARD:0012433,ICD-10,G60.0,NTBT +GARD:0012433,SNOMED-CT,398040009,NA +GARD:0012434,Orphanet,284232,Exact +GARD:0012434,OMIM,614228,Exact +GARD:0012434,ICD-10,G60.0,NTBT +GARD:0012434,SNOMED-CT,782829002,NA +GARD:0012435,Orphanet,300319,Exact +GARD:0012435,OMIM,614436,Exact +GARD:0012435,SNOMED-CT,782826009,NA +GARD:0012435,ICD-10,G60.0,NTBT +GARD:0012436,Orphanet,90114,Exact +GARD:0012436,ICD-10,G60.0,NTBT +GARD:0012437,SNOMED-CT,765744006,NA +GARD:0012437,Orphanet,100043,Exact +GARD:0012437,OMIM,606483,Exact +GARD:0012437,ICD-10,G60.0,NTBT +GARD:0012437,UMLS,C1847896,Exact +GARD:0012438,SNOMED-CT,765745007,NA +GARD:0012438,Orphanet,100044,Exact +GARD:0012438,ICD-10,G60.0,NTBT +GARD:0012438,OMIM,606482,Exact +GARD:0012438,UMLS,C1847902,Exact +GARD:0012439,Orphanet,100045,Exact +GARD:0012439,ICD-10,G60.0,NTBT +GARD:0012439,UMLS,C1842237,Exact +GARD:0012439,OMIM,608323,Exact +GARD:0012439,SNOMED-CT,765746008,NA +GARD:0012440,Orphanet,64749,Exact +GARD:0012440,ICD-10,G60.0,NTBT +GARD:0012441,Orphanet,99952,Exact +GARD:0012441,OMIM,614895,Exact +GARD:0012441,ICD-10,G60.0,NTBT +GARD:0012441,SNOMED-CT,715801001,NA +GARD:0012442,SNOMED-CT,715802008,NA +GARD:0012442,Orphanet,99954,Exact +GARD:0012442,ICD-10,G60.0,NTBT +GARD:0012442,UMLS,C1836336,Exact +GARD:0012442,OMIM,609311,Exact +GARD:0012443,Orphanet,139515,Exact +GARD:0012443,OMIM,611228,Exact +GARD:0012443,ICD-10,G60.0,NTBT +GARD:0012443,UMLS,C1970011,Exact +GARD:0012443,SNOMED-CT,720638000,NA +GARD:0012444,SNOMED-CT,230552007,NA +GARD:0012444,Orphanet,64747,Exact +GARD:0012444,ICD-10,G60.0,NTBT +GARD:0012445,SNOMED-CT,763347000,NA +GARD:0012445,Orphanet,352675,Exact +GARD:0012445,OMIM,300905,Exact +GARD:0012445,ICD-10,G60.0,NTBT +GARD:0012446,Orphanet,329258,Exact +GARD:0012446,OMIM,615025,Exact +GARD:0012446,ICD-10,G60.0,NTBT +GARD:0012446,SNOMED-CT,773393001,NA +GARD:0012447,SNOMED-CT,782742006,NA +GARD:0012447,Orphanet,401964,Exact +GARD:0012447,ICD-10,G60.0,NTBT +GARD:0012447,OMIM,610100,Exact +GARD:0012448,Orphanet,101097,Exact +GARD:0012448,OMIM,607831,BTNT +GARD:0012448,ICD-10,G60.0,NTBT +GARD:0012448,UMLS,C1842983,Exact +GARD:0012448,OMIM,607706,BTNT +GARD:0012448,SNOMED-CT,725047007,NA +GARD:0012449,Orphanet,91024,Exact +GARD:0012449,ICD-10,G60.0,NTBT +GARD:0012451,SNOMED-CT,774147002,NA +GARD:0012451,Orphanet,397968,Exact +GARD:0012451,OMIM,615490,Exact +GARD:0012451,ICD-10,G60.0,NTBT +GARD:0012452,Orphanet,268337,Exact +GARD:0012452,ICD-10,G60.0,NTBT +GARD:0012453,SNOMED-CT,773308001,NA +GARD:0012453,Orphanet,217055,Exact +GARD:0012453,OMIM,608340,Exact +GARD:0012453,ICD-10,G60.0,NTBT +GARD:0012453,UMLS,C1842197,Exact +GARD:0012454,SNOMED-CT,773330000,NA +GARD:0012454,Orphanet,254334,Exact +GARD:0012454,OMIM,613641,Exact +GARD:0012454,ICD-10,G60.0,NTBT +GARD:0012458,SNOMED-CT,25472008,NA +GARD:0012458,Orphanet,251370,Exact +GARD:0012458,UMLS,C0272084,Exact +GARD:0012458,ICD-10,D57.2,NTBT +GARD:0012458,MedDRA,10056724,Exact +GARD:0012459,Orphanet,251355,Exact +GARD:0012459,ICD-10,D57.2,Exact +GARD:0012469,Orphanet,35706,Exact +GARD:0012469,OMIM,231690,Exact +GARD:0012469,ICD-10,E72.3,NTBT +GARD:0012469,UMLS,C0342873,Exact +GARD:0012469,SNOMED-CT,238070003,NA +GARD:0012470,Orphanet,79188,Exact +GARD:0012470,ICD-10,E71.3,NTBT +GARD:0012471,SNOMED-CT,733452000,NA +GARD:0012471,Orphanet,163684,Exact +GARD:0012471,ICD-10,E75.2,NTBT +GARD:0012471,OMIM,613724,Exact +GARD:0012472,SNOMED-CT,773415005,NA +GARD:0012472,Orphanet,369942,Exact +GARD:0012472,UMLS,C1845408,Exact +GARD:0012472,OMIM,300475,NTBT +GARD:0012472,ICD-10,Q87.8,NTBT +GARD:0012474,SNOMED-CT,50869007,NA +GARD:0012474,Orphanet,75392,Exact +GARD:0012474,OMIM,130080,Exact +GARD:0012474,ICD-10,Q79.6,NTBT +GARD:0012474,UMLS,C0268347,Exact +GARD:0012474,OMIM,617174,BTNT +GARD:0012476,Orphanet,309810,Exact +GARD:0012476,ICD-11,5C57.1,Exact +GARD:0012478,Orphanet,36355,Exact +GARD:0012478,SNOMED-CT,725291001,NA +GARD:0012478,ICD-10,D69.8,NTBT +GARD:0012478,UMLS,C1853278,Exact +GARD:0012478,OMIM,609821,Exact +GARD:0012480,Orphanet,96055,Exact +GARD:0012480,ICD-10,Q99.8,NTBT +GARD:0012480,SNOMED-CT,764690001,NA +GARD:0012483,Orphanet,99098,Exact +GARD:0012483,ICD-11,LA8F,NTBT +GARD:0012483,SNOMED-CT,274947007,NA +GARD:0012483,ICD-10,Q24.2,NTBT +GARD:0012484,SNOMED-CT,253353007,NA +GARD:0012484,Orphanet,99099,Exact +GARD:0012484,ICD-10,Q24.2,NTBT +GARD:0012484,ICD-11,LA8G.0,Exact +GARD:0012486,Orphanet,52055,Exact +GARD:0012486,ICD-10,Q87.8,NTBT +GARD:0012486,OMIM,300472,Exact +GARD:0012486,UMLS,C1845446,Exact +GARD:0012486,SNOMED-CT,722282008,NA +GARD:0012487,SNOMED-CT,722455002,NA +GARD:0012487,Orphanet,1495,Exact +GARD:0012487,ICD-10,Q87.8,NTBT +GARD:0012491,SNOMED-CT,717632002,NA +GARD:0012491,Orphanet,452,Exact +GARD:0012491,OMIM,300215,Exact +GARD:0012491,ICD-10,Q04.3,NTBT +GARD:0012491,UMLS,C1846171,Exact +GARD:0012492,Orphanet,261295,Exact +GARD:0012492,ICD-10,Q93.5,NTBT +GARD:0012492,SNOMED-CT,719650004,NA +GARD:0012494,SNOMED-CT,709075008,NA +GARD:0012494,Orphanet,178345,Exact +GARD:0012494,ICD-10,E30.1,NTBT +GARD:0012494,UMLS,C1970109,Exact +GARD:0012494,OMIM,139300,Exact +GARD:0012501,Orphanet,391372,Exact +GARD:0012501,ICD-10,Q87.0,NTBT +GARD:0012501,OMIM,613670,Exact +GARD:0012501,SNOMED-CT,774203000,NA +GARD:0012502,Orphanet,171709,Exact +GARD:0012502,ICD-10,N46,NTBT +GARD:0012502,OMIM,613958,BTNT +GARD:0012502,OMIM,102530,BTNT +GARD:0012503,Orphanet,309252,Exact +GARD:0012503,ICD-10,E75.2,NTBT +GARD:0012503,UMLS,C1864651,Exact +GARD:0012503,OMIM,610539,Exact +GARD:0012504,Orphanet,2072,Exact +GARD:0012504,UMLS,C2931585,Exact +GARD:0012504,OMIM,231005,Exact +GARD:0012504,ICD-10,E75.2,NTBT +GARD:0012504,UMLS,C1856476,Exact +GARD:0012505,Orphanet,139406,Exact +GARD:0012505,ICD-10,E75.2,NTBT +GARD:0012505,OMIM,611721,Exact +GARD:0012505,SNOMED-CT,720864008,NA +GARD:0012510,Orphanet,309144,Exact +GARD:0012510,SNOMED-CT,50967008,NA +GARD:0012510,ICD-10,E75.1,BTNT +GARD:0012510,ICD-10,E75.0,BTNT +GARD:0012510,UMLS,C0017083,Exact +GARD:0012511,Orphanet,79204,Exact +GARD:0012511,ICD-10,E75.6,NTBT +GARD:0012511,ICD-10,E75.5,NTBT +GARD:0012511,SNOMED-CT,10741005,NA +GARD:0012513,Orphanet,399786,Exact +GARD:0012513,ICD-10,N46,NTBT +GARD:0012521,Orphanet,284264,Exact +GARD:0012521,MedDRA,10071569,Exact +GARD:0012521,UMLS,C3203653,Exact +GARD:0012524,SNOMED-CT,716996008,NA +GARD:0012524,Orphanet,275543,Exact +GARD:0012524,ICD-10,Q04.8,NTBT +GARD:0012524,OMIM,307000,BTNT +GARD:0012524,OMIM,304100,BTNT +GARD:0012524,OMIM,303350,BTNT +GARD:0012525,Orphanet,306617,Exact +GARD:0012526,Orphanet,1497,Exact +GARD:0012526,ICD-10,Q04.8,NTBT +GARD:0012526,OMIM,304100,Exact +GARD:0012526,UMLS,C1839909,Exact +GARD:0012528,SNOMED-CT,719987009,NA +GARD:0012528,Orphanet,34516,Exact +GARD:0012528,OMIM,603511,Exact +GARD:0012528,ICD-10,G71.0,NTBT +GARD:0012528,UMLS,C3501858,Exact +GARD:0012530,Orphanet,55595,Exact +GARD:0012530,UMLS,C1842062,Exact +GARD:0012530,ICD-10,G71.0,NTBT +GARD:0012530,OMIM,608423,Exact +GARD:0012530,SNOMED-CT,719989007,NA +GARD:0012531,Orphanet,55596,Exact +GARD:0012531,OMIM,609115,Exact +GARD:0012531,UMLS,C1836765,Exact +GARD:0012531,ICD-10,G71.0,NTBT +GARD:0012531,SNOMED-CT,719990003,NA +GARD:0012532,SNOMED-CT,771334000,NA +GARD:0012532,Orphanet,238755,Exact +GARD:0012532,OMIM,613530,Exact +GARD:0012532,ICD-10,G71.0,NTBT +GARD:0012533,SNOMED-CT,718180000,NA +GARD:0012533,Orphanet,34515,Exact +GARD:0012533,OMIM,607155,Exact +GARD:0012533,UMLS,C1846672,Exact +GARD:0012533,ICD-10,G71.0,NTBT +GARD:0012534,SNOMED-CT,725042001,NA +GARD:0012534,Orphanet,140922,Exact +GARD:0012534,UMLS,C1837342,Exact +GARD:0012534,OMIM,608807,Exact +GARD:0012534,ICD-10,G71.0,NTBT +GARD:0012535,Orphanet,86812,Exact +GARD:0012535,OMIM,609308,Exact +GARD:0012535,SNOMED-CT,720523006,NA +GARD:0012535,UMLS,C1836373,Exact +GARD:0012535,ICD-10,G71.0,NTBT +GARD:0012536,Orphanet,206549,Exact +GARD:0012536,ICD-10,G71.0,NTBT +GARD:0012536,OMIM,611307,Exact +GARD:0012536,UMLS,C1969785,Exact +GARD:0012536,SNOMED-CT,726616006,NA +GARD:0012538,SNOMED-CT,726618007,NA +GARD:0012538,Orphanet,206554,Exact +GARD:0012538,ICD-10,G71.0,NTBT +GARD:0012538,OMIM,611588,Exact +GARD:0012538,UMLS,C1969040,Exact +GARD:0012539,Orphanet,206559,Exact +GARD:0012539,ICD-10,G71.0,NTBT +GARD:0012539,OMIM,613158,Exact +GARD:0012539,SNOMED-CT,726617002,NA +GARD:0012540,Orphanet,206564,Exact +GARD:0012540,ICD-10,G71.0,NTBT +GARD:0012540,OMIM,613157,Exact +GARD:0012540,SNOMED-CT,725043006,NA +GARD:0012541,Orphanet,280333,Exact +GARD:0012541,SNOMED-CT,726614009,NA +GARD:0012541,OMIM,613818,Exact +GARD:0012541,ICD-10,G71.0,NTBT +GARD:0012542,Orphanet,254361,Exact +GARD:0012542,SNOMED-CT,726615005,NA +GARD:0012542,ICD-10,G71.0,NTBT +GARD:0012542,OMIM,613723,Exact +GARD:0012543,Orphanet,369840,Exact +GARD:0012543,OMIM,615356,Exact +GARD:0012543,SNOMED-CT,732929002,NA +GARD:0012543,ICD-10,G71.0,NTBT +GARD:0012544,Orphanet,363623,Exact +GARD:0012544,ICD-10,G71.2,NTBT +GARD:0012544,OMIM,615352,Exact +GARD:0012544,SNOMED-CT,732930007,NA +GARD:0012547,Orphanet,331235,Exact +GARD:0012547,ICD-11,4A01.04,NTBT +GARD:0012547,ICD-10,D80.4,Exact +GARD:0012550,SNOMED-CT,763748007,NA +GARD:0012550,Orphanet,289465,Exact +GARD:0012550,OMIM,136000,Exact +GARD:0012550,ICD-10,Q82.8,NTBT +GARD:0012551,SNOMED-CT,784348007,NA +GARD:0012551,Orphanet,238722,Exact +GARD:0012551,ICD-10,G25.8,NTBT +GARD:0012551,OMIM,614508,BTNT +GARD:0012551,OMIM,157600,BTNT +GARD:0012551,OMIM,616059,BTNT +GARD:0012551,OMIM,618264,BTNT +GARD:0012556,Orphanet,631,Exact +GARD:0012556,UMLS,C0013338,Exact +GARD:0012556,ICD-10,E23.0,NTBT +GARD:0012556,OMIM,300123,BTNT +GARD:0012556,OMIM,612781,BTNT +GARD:0012556,UMLS,C0271561,Exact +GARD:0012556,OMIM,262400,BTNT +GARD:0012556,OMIM,173100,BTNT +GARD:0012556,MedDRA,10035083,Exact +GARD:0012556,OMIM,307200,BTNT +GARD:0012556,OMIM,262650,BTNT +GARD:0012558,OMIM,612621,Exact +GARD:0012558,UMLS,C2675473,NA +GARD:0012558,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/syngap1-related-intellectual-disability,NA +GARD:0012558,DiseaseOntology,70035,NA +GARD:0012558,GeneticAlliance,8828,NA +GARD:0012559,SNOMED-CT,65327002,NA +GARD:0012559,Orphanet,93473,Exact +GARD:0012559,OMIM,607014,Exact +GARD:0012559,UMLS,C0086795,Exact +GARD:0012559,ICD-10,E76.0,NTBT +GARD:0012560,Orphanet,93476,Exact +GARD:0012560,MedDRA,10056916,Exact +GARD:0012560,SNOMED-CT,26745009,NA +GARD:0012560,ICD-10,E76.0,NTBT +GARD:0012560,OMIM,607015,Exact +GARD:0012560,UMLS,C0086431,Exact +GARD:0012561,Orphanet,93474,Exact +GARD:0012561,ICD-10,E76.0,NTBT +GARD:0012561,OMIM,607016,Exact +GARD:0012561,SNOMED-CT,73123008,NA +GARD:0012562,Orphanet,582,Exact +GARD:0012562,OMIM,252300,BTNT +GARD:0012562,OMIM,253010,BTNT +GARD:0012562,OMIM,253000,BTNT +GARD:0012562,UMLS,C0086651,Exact +GARD:0012562,MeSH,D009085,Exact +GARD:0012562,ICD-11,5C56.32,Exact +GARD:0012562,ICD-10,E76.2,NTBT +GARD:0012562,MedDRA,10028095,Exact +GARD:0012562,UMLS,C0026707,Exact +GARD:0012562,SNOMED-CT,378007,NA +GARD:0012567,Orphanet,329303,Exact +GARD:0012567,ICD-10,G23.0,NTBT +GARD:0012568,SNOMED-CT,720466001,NA +GARD:0012568,Orphanet,199351,Exact +GARD:0012568,UMLS,C2751842,Exact +GARD:0012568,ICD-10,G24.1,NTBT +GARD:0012568,OMIM,612953,Exact +GARD:0012569,Orphanet,289560,Exact +GARD:0012569,ICD-10,G23.0,NTBT +GARD:0012569,OMIM,614298,Exact +GARD:0012569,SNOMED-CT,709415008,NA +GARD:0012570,SNOMED-CT,732959007,NA +GARD:0012570,Orphanet,329284,Exact +GARD:0012570,OMIM,300894,Exact +GARD:0012570,ICD-10,G23.0,NTBT +GARD:0012571,SNOMED-CT,732264002,NA +GARD:0012571,Orphanet,397725,Exact +GARD:0012571,ICD-10,G23.0,NTBT +GARD:0012571,OMIM,615643,Exact +GARD:0012584,Orphanet,370953,Exact +GARD:0012584,ICD-10,G71.2,NTBT +GARD:0012585,Orphanet,157973,Exact +GARD:0012585,UMLS,C2750785,Exact +GARD:0012585,OMIM,613205,Exact +GARD:0012585,SNOMED-CT,771272007,NA +GARD:0012585,ICD-10,G71.2,NTBT +GARD:0012586,SNOMED-CT,764944006,NA +GARD:0012586,Orphanet,98893,Exact +GARD:0012586,UMLS,C1858118,Exact +GARD:0012586,ICD-10,G71.2,NTBT +GARD:0012586,OMIM,604801,Exact +GARD:0012587,Orphanet,34520,Exact +GARD:0012587,OMIM,613204,Exact +GARD:0012587,UMLS,C2750786,Exact +GARD:0012587,ICD-10,G71.2,NTBT +GARD:0012587,SNOMED-CT,771267003,NA +GARD:0012588,Orphanet,352687,Exact +GARD:0012590,Orphanet,45358,Exact +GARD:0012590,OMIM,135700,Exact +GARD:0012590,ICD-10,H49.8,NTBT +GARD:0012590,OMIM,609384,BTNT +GARD:0012590,OMIM,602078,BTNT +GARD:0012590,OMIM,609612,BTNT +GARD:0012590,OMIM,609428,BTNT +GARD:0012590,UMLS,C1302995,Exact +GARD:0012590,OMIM,600638,BTNT +GARD:0012590,SNOMED-CT,400946004,NA +GARD:0012591,SNOMED-CT,702373006,NA +GARD:0012591,Orphanet,178464,Exact +GARD:0012591,ICD-10,G71.0,NTBT +GARD:0012591,UMLS,C1863599,Exact +GARD:0012591,OMIM,603689,Exact +GARD:0012592,Orphanet,98897,Exact +GARD:0012592,UMLS,C1834014,Exact +GARD:0012592,OMIM,618940,BTNT +GARD:0012592,OMIM,164310,BTNT +GARD:0012592,ICD-10,G71.0,NTBT +GARD:0012592,SNOMED-CT,763829004,NA +GARD:0012596,Orphanet,90970,Exact +GARD:0012596,ICD-10,E88.1,NTBT +GARD:0012597,Orphanet,98305,Exact +GARD:0012597,ICD-11,LD27.6,Exact +GARD:0012597,ICD-10,E88.1,NTBT +GARD:0012598,Orphanet,79084,Exact +GARD:0012598,UMLS,C1720859,Exact +GARD:0012598,OMIM,608600,Exact +GARD:0012598,ICD-10,E88.1,NTBT +GARD:0012598,SNOMED-CT,725035001,NA +GARD:0012599,Orphanet,79085,Exact +GARD:0012599,ICD-10,E88.1,NTBT +GARD:0012600,Orphanet,79083,Exact +GARD:0012600,ICD-10,E88.1,NTBT +GARD:0012600,OMIM,604367,Exact +GARD:0012600,UMLS,C1720861,Exact +GARD:0012601,Orphanet,280356,Exact +GARD:0012601,ICD-10,E88.1,NTBT +GARD:0012601,OMIM,613877,Exact +GARD:0012601,SNOMED-CT,783616005,NA +GARD:0012602,Orphanet,98307,Exact +GARD:0012602,MedDRA,10049287,Exact +GARD:0012602,ICD-10,E88.1,NTBT +GARD:0012602,UMLS,C0877192,Exact +GARD:0012603,SNOMED-CT,86907008,NA +GARD:0012603,Orphanet,79086,Exact +GARD:0012603,UMLS,C3665770,Exact +GARD:0012603,ICD-10,E88.1,NTBT +GARD:0012603,UMLS,C0271693,Exact +GARD:0012604,Orphanet,1979,Exact +GARD:0012604,UMLS,C1856243,Exact +GARD:0012604,UMLS,C2931279,Exact +GARD:0012604,OMIM,233805,Exact +GARD:0012604,SNOMED-CT,724176001,NA +GARD:0012604,ICD-10,E88.1,NTBT +GARD:0012610,Orphanet,157965,Exact +GARD:0012610,ICD-10,Q79.6,NTBT +GARD:0012610,OMIM,612350,Exact +GARD:0012610,UMLS,C2676510,Exact +GARD:0012610,SNOMED-CT,773276004,NA +GARD:0012613,Orphanet,230851,Exact +GARD:0012613,OMIM,225320,Exact +GARD:0012613,ICD-10,Q79.6,NTBT +GARD:0012613,UMLS,C1857034,Exact +GARD:0012613,SNOMED-CT,720858001,NA +GARD:0012621,Orphanet,369955,Exact +GARD:0012621,OMIM,614857,Exact +GARD:0012621,ICD-10,E71.1,NTBT +GARD:0012623,Orphanet,28,Exact +GARD:0012623,OMIM,251110,BTNT +GARD:0012623,OMIM,277410,BTNT +GARD:0012623,OMIM,251100,BTNT +GARD:0012623,ICD-10,E71.1,NTBT +GARD:0012623,SNOMED-CT,69614003,NA +GARD:0012631,SNOMED-CT,719305006,NA +GARD:0012631,Orphanet,140917,Exact +GARD:0012631,ICD-10,Q87.8,NTBT +GARD:0012631,OMIM,184460,Exact +GARD:0012631,UMLS,C1866656,Exact +GARD:0012632,Orphanet,289573,Exact +GARD:0012632,SNOMED-CT,720827002,NA +GARD:0012635,Orphanet,2377,Exact +GARD:0012635,MeSH,D007849,Exact +GARD:0012635,UMLS,C0023138,Exact +GARD:0012635,MedDRA,10056710,Exact +GARD:0012635,ICD-10,Q87.8,NTBT +GARD:0012635,OMIM,245800,Exact +GARD:0012635,SNOMED-CT,232059000,NA +GARD:0012638,SNOMED-CT,718232007,NA +GARD:0012638,Orphanet,183713,Exact +GARD:0012638,UMLS,C2677092,Exact +GARD:0012638,OMIM,612260,Exact +GARD:0012638,ICD-10,D84.8,NTBT +GARD:0012640,SNOMED-CT,773628009,NA +GARD:0012640,Orphanet,306542,Exact +GARD:0012640,OMIM,613456,Exact +GARD:0012641,Orphanet,228390,Exact +GARD:0012641,OMIM,613451,Exact +GARD:0012641,ICD-10,Q87.0,NTBT +GARD:0012641,SNOMED-CT,725029001,NA +GARD:0012642,Orphanet,391474,Exact +GARD:0012642,ICD-10,Q75.8,NTBT +GARD:0012642,OMIM,136760,Exact +GARD:0012643,Orphanet,294965,Exact +GARD:0012643,ICD-10,Q68.8,NTBT +GARD:0012644,Orphanet,137783,Exact +GARD:0012644,SNOMED-CT,715420005,NA +GARD:0012644,OMIM,614915,BTNT +GARD:0012644,UMLS,C1969655,Exact +GARD:0012644,ICD-10,Q68.8,NTBT +GARD:0012644,OMIM,611369,Exact +GARD:0012645,OMIM,614915,Exact +GARD:0012645,UMLS,C3554046,NA +GARD:0012648,SNOMED-CT,734026006,NA +GARD:0012648,Orphanet,91489,Exact +GARD:0012648,OMIM,309300,Exact +GARD:0012648,ICD-10,Q15.8,NTBT +GARD:0012650,Orphanet,68,Exact +GARD:0012650,ICD-10,B60.2,BTNT +GARD:0012650,ICD-10,B60.1,BTNT +GARD:0012652,SNOMED-CT,735421004,NA +GARD:0012652,Orphanet,137898,Exact +GARD:0012652,OMIM,611105,Exact +GARD:0012652,UMLS,C1970180,Exact +GARD:0012652,ICD-10,E88.8,NTBT +GARD:0012653,Orphanet,447737,Exact +GARD:0012653,OMIM,616433,Exact +GARD:0012653,ICD-10,D81.8,NTBT +GARD:0012656,Orphanet,160,Exact +GARD:0012656,ICD-10,D47.7,NTBT +GARD:0012656,UMLS,C0017531,Exact +GARD:0012656,OMIM,148000,BTNT +GARD:0012656,MeSH,C536362,Exact +GARD:0012656,UMLS,C2931179,Exact +GARD:0012656,MedDRA,10050251,Exact +GARD:0012656,MeSH,D005871,Exact +GARD:0012656,SNOMED-CT,207036003,NA +GARD:0012662,Orphanet,141189,Exact +GARD:0012662,ICD-10,Q28.2,NTBT +GARD:0012663,Orphanet,156230,Exact +GARD:0012663,ICD-10,Q27.3,NTBT +GARD:0012664,Orphanet,95699,Exact +GARD:0012664,OMIM,613571,Exact +GARD:0012664,ICD-10,E25.0,NTBT +GARD:0012664,SNOMED-CT,715733000,NA +GARD:0012665,SNOMED-CT,717261006,NA +GARD:0012665,Orphanet,90794,Exact +GARD:0012665,UMLS,C2936858,Exact +GARD:0012665,ICD-10,E25.0,NTBT +GARD:0012665,OMIM,201910,Exact +GARD:0012669,Orphanet,163937,Exact +GARD:0012669,UMLS,C2677903,Exact +GARD:0012669,OMIM,300749,Exact +GARD:0012669,SNOMED-CT,703389002,NA +GARD:0012669,ICD-10,Q04.3,NTBT +GARD:0012673,Orphanet,254395,Exact +GARD:0012673,UMLS,C0406365,Exact +GARD:0012673,ICD-10,L43.8,NTBT +GARD:0012673,SNOMED-CT,200999007,NA +GARD:0012674,Orphanet,254424,Exact +GARD:0012674,ICD-10,L43.8,NTBT +GARD:0012674,UMLS,C0406363,Exact +GARD:0012674,SNOMED-CT,201000006,NA +GARD:0012675,SNOMED-CT,25858008,NA +GARD:0012675,Orphanet,254449,Exact +GARD:0012675,MedDRA,10056959,Exact +GARD:0012675,ICD-10,L43.8,NTBT +GARD:0012675,UMLS,C0023647,Exact +GARD:0012676,SNOMED-CT,720493003,NA +GARD:0012676,Orphanet,254411,Exact +GARD:0012676,ICD-10,L43.8,NTBT +GARD:0012677,SNOMED-CT,238653005,NA +GARD:0012677,Orphanet,254478,Exact +GARD:0012677,UMLS,C0406369,Exact +GARD:0012677,ICD-10,L43.8,NTBT +GARD:0012678,SNOMED-CT,782744007,NA +GARD:0012678,Orphanet,401859,Exact +GARD:0012678,OMIM,614462,Exact +GARD:0012678,ICD-10,E88.8,NTBT +GARD:0012679,Orphanet,401854,Exact +GARD:0012679,ICD-10,E88.8,NTBT +GARD:0012680,SNOMED-CT,782745008,NA +GARD:0012680,Orphanet,401862,Exact +GARD:0012680,OMIM,616299,Exact +GARD:0012680,ICD-10,E88.8,NTBT +GARD:0012681,Orphanet,401866,Exact +GARD:0012681,ICD-10,E88.8,NTBT +GARD:0012681,OMIM,616859,Exact +GARD:0012681,SNOMED-CT,773492007,NA +GARD:0012682,Orphanet,2744,Exact +GARD:0012682,ICD-10,H49.4,NTBT +GARD:0012682,UMLS,C1846496,Exact +GARD:0012682,OMIM,617542,BTNT +GARD:0012682,SNOMED-CT,702381007,NA +GARD:0012682,OMIM,607313,Exact +GARD:0012683,Orphanet,53739,Exact +GARD:0012683,SNOMED-CT,230247001,NA +GARD:0012683,UMLS,C0393541,Exact +GARD:0012684,Orphanet,391384,Exact +GARD:0012684,OMIM,615552,BTNT +GARD:0012684,OMIM,615040,BTNT +GARD:0012684,ICD-10,M79.6,NTBT +GARD:0012684,SNOMED-CT,782756008,NA +GARD:0012686,Orphanet,79456,Exact +GARD:0012686,MedDRA,10012812,Exact +GARD:0012686,ICD-10,Q82.2,NTBT +GARD:0012686,UMLS,C0024901,Exact +GARD:0012686,SNOMED-CT,397014001,NA +GARD:0012687,SNOMED-CT,397013007,NA +GARD:0012687,Orphanet,79455,Exact +GARD:0012687,MeSH,D054705,Exact +GARD:0012687,ICD-10,Q82.2,NTBT +GARD:0012687,UMLS,C0343115,Exact +GARD:0012688,SNOMED-CT,128205005,NA +GARD:0012688,Orphanet,140471,Exact +GARD:0012688,ICD-10,G60.8,NTBT +GARD:0012688,MeSH,D009477,Exact +GARD:0012688,UMLS,C0027889,Exact +GARD:0012697,Orphanet,252057,Exact +GARD:0012698,Orphanet,85102,Exact +GARD:0012698,UMLS,C0751691,Exact +GARD:0012698,SNOMED-CT,404036006,NA +GARD:0012703,Orphanet,2764,Exact +GARD:0012703,ICD-11,FB82.1,NTBT +GARD:0012703,SNOMED-CT,82562007,NA +GARD:0012703,UMLS,C0029421,Exact +GARD:0012703,MedDRA,10031231,Exact +GARD:0012703,ICD-10,M93.2,Exact +GARD:0012703,MeSH,D010008,Exact +GARD:0012704,Orphanet,399319,Exact +GARD:0012704,UMLS,C0029429,Exact +GARD:0012704,ICD-10,M93.9,NTBT +GARD:0012706,Orphanet,617440,Exact +GARD:0012713,Orphanet,137932,Exact +GARD:0012713,UMLS,C0396058,Exact +GARD:0012713,ICD-10,J38.0,NTBT +GARD:0012713,SNOMED-CT,232441008,NA +GARD:0012715,Orphanet,457260,Exact +GARD:0012715,OMIM,300958,NTBT +GARD:0012715,ICD-10,F78.8,NTBT +GARD:0012716,SNOMED-CT,238832003,NA +GARD:0012716,Orphanet,228240,Exact +GARD:0012716,UMLS,C0406555,Exact +GARD:0012718,SNOMED-CT,240081004,NA +GARD:0012718,Orphanet,169186,Exact +GARD:0012718,OMIM,615959,BTNT +GARD:0012718,OMIM,255200,BTNT +GARD:0012718,UMLS,C3645536,Exact +GARD:0012718,UMLS,C0410204,Exact +GARD:0012718,ICD-10,G71.2,NTBT +GARD:0012719,Orphanet,169189,Exact +GARD:0012719,ICD-10,G71.2,NTBT +GARD:0012719,OMIM,160150,Exact +GARD:0012719,UMLS,C1834558,Exact +GARD:0012719,OMIM,614408,BTNT +GARD:0012719,SNOMED-CT,716696006,NA +GARD:0012720,Orphanet,97232,Exact +GARD:0012720,SNOMED-CT,23820006,NA +GARD:0012720,ICD-10,G71.2,NTBT +GARD:0012720,OMIM,305550,Exact +GARD:0012720,UMLS,C1844560,Exact +GARD:0012722,Orphanet,324588,Exact +GARD:0012722,OMIM,606703,Exact +GARD:0012722,UMLS,C1847627,Exact +GARD:0012722,ICD-10,G51.4,NTBT +GARD:0012722,SNOMED-CT,763352005,NA +GARD:0012724,Orphanet,98892,Exact +GARD:0012724,OMIM,618185,BTNT +GARD:0012724,UMLS,C1868720,Exact +GARD:0012724,OMIM,608097,BTNT +GARD:0012724,OMIM,300049,BTNT +GARD:0012724,OMIM,612881,BTNT +GARD:0012724,OMIM,608098,BTNT +GARD:0012724,OMIM,617201,BTNT +GARD:0012724,MeSH,D054091,Exact +GARD:0012724,OMIM,618918,BTNT +GARD:0012724,OMIM,615544,BTNT +GARD:0012724,ICD-10,Q04.8,NTBT +GARD:0012724,MedDRA,10066854,Exact +GARD:0012731,SNOMED-CT,719838008,NA +GARD:0012731,Orphanet,139583,Exact +GARD:0012731,OMIM,300614,Exact +GARD:0012731,ICD-10,G60.8,NTBT +GARD:0012732,Orphanet,391397,Exact +GARD:0012732,OMIM,615548,Exact +GARD:0012732,ICD-10,G60.8,NTBT +GARD:0012732,SNOMED-CT,783550006,NA +GARD:0012733,Orphanet,207015,Exact +GARD:0012733,UMLS,C0392553,Exact +GARD:0012736,Orphanet,93548,Exact +GARD:0012736,UMLS,C0268731,Exact +GARD:0012740,Orphanet,97566,Exact +GARD:0012740,ICD-10,N03.6,NTBT +GARD:0012740,SNOMED-CT,718192000,NA +GARD:0012741,Orphanet,91137,Exact +GARD:0012741,ICD-10,N03.6,NTBT +GARD:0012742,SNOMED-CT,738526005,NA +GARD:0012742,Orphanet,93568,Exact +GARD:0012742,ICD-11,4A41.10,Exact +GARD:0012742,ICD-10,M33.2,NTBT +GARD:0012744,Orphanet,2978,Exact +GARD:0012744,OMIM,601223,BTNT +GARD:0012744,OMIM,609629,BTNT +GARD:0012744,OMIM,243180,BTNT +GARD:0012744,OMIM,300048,BTNT +GARD:0012744,UMLS,C0238062,Exact +GARD:0012744,ICD-10,K59.8,NTBT +GARD:0012744,SNOMED-CT,235828008,NA +GARD:0012749,Orphanet,171622,Exact +GARD:0012749,OMIM,611252,Exact +GARD:0012749,ICD-10,G11.4,NTBT +GARD:0012749,UMLS,C1970009,Exact +GARD:0012749,SNOMED-CT,726606003,NA +GARD:0012757,SNOMED-CT,91861009,NA +GARD:0012757,Orphanet,519,Exact +GARD:0012757,MeSH,D015470,Exact +GARD:0012757,UMLS,C1879321,Exact +GARD:0012757,UMLS,C0023467,Exact +GARD:0012757,MedDRA,10000880,Exact +GARD:0012757,ICD-10,C92.0,Exact +GARD:0012757,ICD-11,2A60,Exact +GARD:0012757,OMIM,601626,Exact +GARD:0012758,SNOMED-CT,721305008,NA +GARD:0012758,Orphanet,98277,Exact +GARD:0012758,UMLS,C1275661,Exact +GARD:0012758,ICD-11,2A60.0,Exact +GARD:0012758,OMIM,601626,Exact +GARD:0012759,SNOMED-CT,780844005,NA +GARD:0012759,Orphanet,402020,Exact +GARD:0012759,ICD-10,C92.0,NTBT +GARD:0012760,Orphanet,167714,Exact +GARD:0012760,OMIM,601626,NTBT +GARD:0012761,SNOMED-CT,445448008,NA +GARD:0012761,Orphanet,86845,Exact +GARD:0012761,ICD-11,2A60.1,Exact +GARD:0012761,UMLS,C1292773,Exact +GARD:0012761,ICD-10,C92.8,Exact +GARD:0012761,OMIM,601626,NTBT +GARD:0012762,Orphanet,86846,Exact +GARD:0012762,ICD-11,2A60.20,Exact +GARD:0012762,UMLS,C1292776,Exact +GARD:0012762,OMIM,601626,NTBT +GARD:0012762,ICD-10,C92.0,NTBT +GARD:0012762,SNOMED-CT,721306009,NA +GARD:0012763,SNOMED-CT,94719007,NA +GARD:0012763,Orphanet,86850,Exact +GARD:0012763,MeSH,D023981,Exact +GARD:0012763,ICD-10,C92.3,NTBT +GARD:0012763,UMLS,C0152276,Exact +GARD:0012763,ICD-11,2A60.39,Exact +GARD:0012765,Orphanet,420611,Exact +GARD:0012765,ICD-10,D47.7,NTBT +GARD:0012765,OMIM,159595,Exact +GARD:0012765,UMLS,C1834582,Exact +GARD:0012766,Orphanet,217377,Exact +GARD:0012766,OMIM,300801,Exact +GARD:0012766,ICD-10,Q99.8,NTBT +GARD:0012766,UMLS,C2749022,Exact +GARD:0012766,SNOMED-CT,721881008,NA +GARD:0012768,Orphanet,284388,Exact +GARD:0012768,UMLS,C3544214,Exact +GARD:0012768,ICD-10,I67.8,NTBT +GARD:0012768,SNOMED-CT,700467001,NA +GARD:0012772,Orphanet,180257,Exact +GARD:0012772,UMLS,C0006142,Exact +GARD:0012772,UMLS,C0678222,Exact +GARD:0012773,Orphanet,213528,Exact +GARD:0012773,ICD-10,C50.5,BTNT +GARD:0012773,ICD-10,C50.2,BTNT +GARD:0012773,ICD-10,C50.8,BTNT +GARD:0012773,ICD-10,C50.4,BTNT +GARD:0012773,UMLS,C0858252,Exact +GARD:0012773,ICD-10,C50.3,BTNT +GARD:0012773,ICD-10,C50.1,BTNT +GARD:0012773,ICD-10,C50.6,BTNT +GARD:0012773,ICD-10,C50.0,BTNT +GARD:0012774,Orphanet,213557,Exact +GARD:0012774,ICD-10,C50.4,BTNT +GARD:0012774,ICD-10,C50.8,BTNT +GARD:0012774,ICD-10,C50.0,BTNT +GARD:0012774,ICD-10,C50.6,BTNT +GARD:0012774,ICD-10,C50.2,BTNT +GARD:0012774,ICD-10,C50.1,BTNT +GARD:0012774,ICD-10,C50.3,BTNT +GARD:0012774,ICD-10,C50.5,BTNT +GARD:0012774,SNOMED-CT,716593008,NA +GARD:0012775,Orphanet,180253,Exact +GARD:0012775,UMLS,C0346156,Exact +GARD:0012775,ICD-10,D24,NTBT +GARD:0012777,Orphanet,300496,Exact +GARD:0012777,ICD-10,Q87.8,NTBT +GARD:0012777,OMIM,300868,Exact +GARD:0012777,SNOMED-CT,773643006,NA +GARD:0012779,Orphanet,284247,Exact +GARD:0012779,OMIM,614224,Exact +GARD:0012779,SNOMED-CT,764452004,NA +GARD:0012781,Orphanet,280633,Exact +GARD:0012781,OMIM,614080,Exact +GARD:0012781,ICD-10,Q87.8,NTBT +GARD:0012781,SNOMED-CT,785303004,NA +GARD:0012782,Orphanet,371235,Exact +GARD:0012782,ICD-10,E77.8,NTBT +GARD:0012784,Orphanet,542643,Exact +GARD:0012784,ICD-11,EF50,Exact +GARD:0012784,ICD-10,L95.0,Exact +GARD:0012794,SNOMED-CT,725407006,NA +GARD:0012794,Orphanet,89842,Exact +GARD:0012794,ICD-10,Q81.2,NTBT +GARD:0012796,Orphanet,166260,Exact +GARD:0012796,ICD-10,K00.5,NTBT +GARD:0012796,OMIM,125490,Exact +GARD:0012796,UMLS,C2973527,Exact +GARD:0012796,OMIM,605594,BTNT +GARD:0012796,SNOMED-CT,234969005,NA +GARD:0012798,Orphanet,1020,Exact +GARD:0012798,UMLS,C0276496,Exact +GARD:0012798,OMIM,607822,BTNT +GARD:0012798,OMIM,611154,BTNT +GARD:0012798,OMIM,611152,BTNT +GARD:0012798,OMIM,104300,NTBT +GARD:0012798,OMIM,602096,BTNT +GARD:0012798,OMIM,104310,BTNT +GARD:0012798,OMIM,605526,BTNT +GARD:0012798,SNOMED-CT,230265002,NA +GARD:0012798,ICD-10,G30.0,NTBT +GARD:0012798,OMIM,609636,BTNT +GARD:0012798,OMIM,609790,BTNT +GARD:0012798,OMIM,607116,BTNT +GARD:0012798,OMIM,606187,BTNT +GARD:0012798,OMIM,605055,BTNT +GARD:0012798,OMIM,606889,BTNT +GARD:0012798,OMIM,611073,BTNT +GARD:0012798,OMIM,604154,BTNT +GARD:0012799,OMIM,104310,Exact +GARD:0012799,SNOMED-CT,230267005,NA +GARD:0012799,DiseaseOntology,110035,NA +GARD:0012799,UMLS,C1863051,NA +GARD:0012800,Orphanet,306498,Exact +GARD:0012800,UMLS,C1959582,Exact +GARD:0012801,Orphanet,2969,Exact +GARD:0012801,OMIM,158350,NTBT +GARD:0012801,ICD-10,Q87.3,NTBT +GARD:0012801,UMLS,C1866398,Exact +GARD:0012801,SNOMED-CT,716862002,NA +GARD:0012806,Orphanet,1797,Exact +GARD:0012806,OMIM,122600,NTBT +GARD:0012806,ICD-10,Q76.4,NTBT +GARD:0012806,SNOMED-CT,716232002,NA +GARD:0012807,OMIM,616566,Exact +GARD:0012807,Orphanet,2311,NTBT +GARD:0012807,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/spondylocostal-dysostosis,NA +GARD:0012807,UMLS,C4225279,NA +GARD:0012807,DiseaseOntology,112360,NA +GARD:0012811,Orphanet,404463,Exact +GARD:0012811,ICD-10,I73.8,NTBT +GARD:0012811,SNOMED-CT,782724001,NA +GARD:0012811,OMIM,613834,Exact +GARD:0012814,Orphanet,508488,Exact +GARD:0012814,OMIM,615583,NTBT +GARD:0012815,Orphanet,363686,Exact +GARD:0012815,OMIM,615074,Exact +GARD:0012815,ICD-10,Q87.8,NTBT +GARD:0012815,SNOMED-CT,773551001,NA +GARD:0012816,Orphanet,228399,Exact +GARD:0012816,ICD-10,Q92.3,NTBT +GARD:0012816,SNOMED-CT,719684000,NA +GARD:0012819,Orphanet,247353,Exact +GARD:0012819,ICD-11,EA90.40,Exact +GARD:0012819,OMIM,616106,BTNT +GARD:0012819,ICD-10,L40.1,Exact +GARD:0012819,OMIM,614204,NTBT +GARD:0012819,UMLS,C0343055,Exact +GARD:0012819,SNOMED-CT,238612002,NA +GARD:0012820,Orphanet,163927,Exact +GARD:0012820,ICD-11,EA90.42,Exact +GARD:0012820,UMLS,C0030246,Exact +GARD:0012820,ICD-10,L40.3,Exact +GARD:0012820,MedDRA,10050185,Exact +GARD:0012820,SNOMED-CT,27520001,NA +GARD:0012821,Orphanet,171430,Exact +GARD:0012821,OMIM,256030,BTNT +GARD:0012821,OMIM,615731,BTNT +GARD:0012821,ICD-10,G71.2,NTBT +GARD:0012821,OMIM,161800,BTNT +GARD:0012821,OMIM,616165,BTNT +GARD:0012821,OMIM,615348,BTNT +GARD:0012822,Orphanet,171436,Exact +GARD:0012822,OMIM,610687,BTNT +GARD:0012822,OMIM,609285,BTNT +GARD:0012822,ICD-10,G71.2,NTBT +GARD:0012822,OMIM,616165,BTNT +GARD:0012822,OMIM,615731,BTNT +GARD:0012822,OMIM,256030,BTNT +GARD:0012822,OMIM,161800,BTNT +GARD:0012823,Orphanet,171433,Exact +GARD:0012823,OMIM,256030,BTNT +GARD:0012823,OMIM,609284,BTNT +GARD:0012823,ICD-10,G71.2,NTBT +GARD:0012823,OMIM,161800,BTNT +GARD:0012823,OMIM,615731,BTNT +GARD:0012824,Orphanet,171442,Exact +GARD:0012824,ICD-10,G71.2,NTBT +GARD:0012824,UMLS,C0546123,Exact +GARD:0012825,Orphanet,561854,Exact +GARD:0012825,ICD-10,F84.8,NTBT +GARD:0012827,Orphanet,69735,Exact +GARD:0012827,OMIM,137940,BTNT +GARD:0012827,OMIM,607823,BTNT +GARD:0012827,SNOMED-CT,723363009,NA +GARD:0012829,Orphanet,411703,Exact +GARD:0012829,ICD-11,1B21.0,Exact +GARD:0012829,ICD-10,A31.0,Exact +GARD:0012829,SNOMED-CT,1731000119106,NA +GARD:0012832,OMIM,613426,Exact +GARD:0012832,UMLS,C3150690,NA +GARD:0012832,GeneticAlliance,8260,NA +GARD:0012832,DiseaseOntology,110454,NA +GARD:0012832,UMLS,C1834481,NA +GARD:0012835,SNOMED-CT,236302005,NA +GARD:0012835,Orphanet,79126,Exact +GARD:0012835,UMLS,C0085786,Exact +GARD:0012835,ICD-11,CB03.0,Exact +GARD:0012835,ICD-10,J84.1,NTBT +GARD:0012835,UMLS,C1279945,Exact +GARD:0012835,OMIM,178500,NTBT +GARD:0012835,MedDRA,10066728,Exact +GARD:0012843,SNOMED-CT,62557001,NA +GARD:0012843,Orphanet,71274,Exact +GARD:0012843,ICD-10,D20.1,NTBT +GARD:0012844,Orphanet,363396,Exact +GARD:0012844,OMIM,221200,Exact +GARD:0012844,ICD-10,H90.5,NTBT +GARD:0012844,SNOMED-CT,720506002,NA +GARD:0012845,Orphanet,444077,Exact +GARD:0012845,ICD-10,Q87.8,NTBT +GARD:0012845,OMIM,616368,Exact +GARD:0012851,OMIM,613970,Exact +GARD:0012851,DiseaseOntology,70036,NA +GARD:0012851,UMLS,C3151411,NA +GARD:0012851,GeneticAlliance,8829,NA +GARD:0012854,SNOMED-CT,699190008,NA +GARD:0012854,Orphanet,46348,Exact +GARD:0012854,ICD-10,G90.8,NTBT +GARD:0012854,UMLS,C1833661,Exact +GARD:0012854,OMIM,167400,Exact +GARD:0012860,SNOMED-CT,725408001,NA +GARD:0012860,Orphanet,64753,Exact +GARD:0012860,ICD-10,G60.2,NTBT +GARD:0012860,OMIM,615217,BTNT +GARD:0012860,OMIM,606002,BTNT +GARD:0012861,Orphanet,572550,Exact +GARD:0012861,ICD-10,G12.1,NTBT +GARD:0012861,OMIM,614707,Exact +GARD:0012862,SNOMED-CT,718749004,NA +GARD:0012862,Orphanet,263543,Exact +GARD:0012862,OMIM,270300,Exact +GARD:0012862,OMIM,616265,BTNT +GARD:0012862,ICD-10,Q80.8,NTBT +GARD:0012863,SNOMED-CT,709416009,NA +GARD:0012863,Orphanet,263534,Exact +GARD:0012863,UMLS,C1853354,Exact +GARD:0012863,OMIM,609796,Exact +GARD:0012863,ICD-10,Q80.8,NTBT +GARD:0012864,SNOMED-CT,720940008,NA +GARD:0012864,Orphanet,140905,Exact +GARD:0012864,ICD-10,E78.4,NTBT +GARD:0012864,OMIM,614025,Exact +GARD:0012867,Orphanet,96253,Exact +GARD:0012867,UMLS,C0010481,Exact +GARD:0012867,OMIM,219090,Exact +GARD:0012867,MeSH,D047748,Exact +GARD:0012867,MedDRA,10035109,Exact +GARD:0012867,UMLS,C0221406,Exact +GARD:0012867,ICD-10,E24.0,Exact +GARD:0012867,ICD-11,5A70.0,Exact +GARD:0012867,ICD-10,D35.2,NTBT +GARD:0012867,SNOMED-CT,190502001,NA +GARD:0012868,SNOMED-CT,783090002,NA +GARD:0012868,Orphanet,209943,Exact +GARD:0012868,UMLS,C3665812,Exact +GARD:0012868,ICD-10,H35.0,NTBT +GARD:0012874,OMIM,613848,Exact +GARD:0012874,GeneticAlliance,9055,NA +GARD:0012874,DiseaseOntology,110346,NA +GARD:0012874,UMLS,C3151211,NA +GARD:0012875,OMIM,610968,Exact +GARD:0012875,UMLS,C3151218,NA +GARD:0012875,GeneticAlliance,5461,NA +GARD:0012875,DiseaseOntology,110351,NA +GARD:0012889,Orphanet,209908,Exact +GARD:0012889,OMIM,602081,Exact +GARD:0012889,ICD-10,F80.0,NTBT +GARD:0012892,SNOMED-CT,771513008,NA +GARD:0012892,Orphanet,352563,Exact +GARD:0012892,OMIM,615395,Exact +GARD:0012892,ICD-10,E88.8,NTBT +GARD:0012893,SNOMED-CT,763366000,NA +GARD:0012893,Orphanet,314051,Exact +GARD:0012893,ICD-10,E88.8,NTBT +GARD:0012893,OMIM,614924,Exact +GARD:0012894,Orphanet,448237,Exact +GARD:0012894,ICD-10,A92.5,Exact +GARD:0012894,ICD-11,1D48,Exact +GARD:0012900,OMIM,612164,Exact +GARD:0012900,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy,NA +GARD:0012900,GeneticAlliance,8343,NA +GARD:0012900,DiseaseOntology,80436,NA +GARD:0012900,UMLS,C2677326,NA +GARD:0012900,SNOMED-CT,768666006,NA +GARD:0012901,OMIM,615905,Exact +GARD:0012901,Orphanet,442835,NTBT +GARD:0012901,UMLS,C4014621,NA +GARD:0012901,DiseaseOntology,80453,NA +GARD:0012903,SNOMED-CT,770723007,NA +GARD:0012903,Orphanet,401777,Exact +GARD:0012903,OMIM,615722,Exact +GARD:0012903,ICD-10,H47.2,NTBT +GARD:0012913,Orphanet,500533,Exact +GARD:0012913,ICD-10,G40.4,NTBT +GARD:0012913,OMIM,611087,Exact +GARD:0012915,Orphanet,319612,Exact +GARD:0012915,ICD-10,D84.8,NTBT +GARD:0012915,OMIM,300636,Exact +GARD:0012916,Orphanet,71275,Exact +GARD:0012916,OMIM,268150,NTBT +GARD:0012916,UMLS,C0272052,Exact +GARD:0012916,UMLS,C1849387,Exact +GARD:0012916,ICD-10,D58.8,NTBT +GARD:0012916,SNOMED-CT,37272000,NA +GARD:0012916,OMIM,617970,BTNT +GARD:0012919,SNOMED-CT,784345005,NA +GARD:0012919,Orphanet,293181,Exact +GARD:0012919,OMIM,613722,BTNT +GARD:0012919,OMIM,615338,BTNT +GARD:0012919,ICD-10,G40.0,NTBT +GARD:0012919,OMIM,616645,BTNT +GARD:0012919,ICD-11,8A61.12,Exact +GARD:0012919,OMIM,614959,BTNT +GARD:0012921,Orphanet,79406,Exact +GARD:0012921,SNOMED-CT,719432000,NA +GARD:0012921,ICD-10,Q81.8,NTBT +GARD:0012922,Orphanet,79402,Exact +GARD:0012922,OMIM,226650,NTBT +GARD:0012922,ICD-10,Q81.8,NTBT +GARD:0012923,Orphanet,251393,Exact +GARD:0012923,OMIM,226650,NTBT +GARD:0012923,ICD-10,Q81.8,NTBT +GARD:0012924,Orphanet,275555,Exact +GARD:0012924,OMIM,614595,BTNT +GARD:0012924,UMLS,C0032914,Exact +GARD:0012924,ICD-10,O14.2,BTNT +GARD:0012924,ICD-10,O14.0,BTNT +GARD:0012924,OMIM,189800,Exact +GARD:0012924,OMIM,609404,BTNT +GARD:0012924,OMIM,609403,BTNT +GARD:0012924,SNOMED-CT,398254007,NA +GARD:0012924,OMIM,609402,BTNT +GARD:0012924,ICD-10,O14.9,BTNT +GARD:0012924,MedDRA,10036485,Exact +GARD:0012924,ICD-10,O14.1,BTNT +GARD:0012925,Orphanet,199276,Exact +GARD:0012925,ICD-10,E88.2,NTBT +GARD:0012925,OMIM,151900,Exact +GARD:0012925,UMLS,C3489413,Exact +GARD:0012925,SNOMED-CT,766888002,NA +GARD:0012927,Orphanet,90059,Exact +GARD:0012927,ICD-10,H83.3,NTBT +GARD:0012928,Orphanet,94,Exact +GARD:0012928,MeSH,D001254,Exact +GARD:0012928,UMLS,C0004114,Exact +GARD:0012928,MedDRA,10003571,Exact +GARD:0012928,OMIM,137800,NTBT +GARD:0012928,SNOMED-CT,254938000,NA +GARD:0012931,SNOMED-CT,766824003,NA +GARD:0012931,Orphanet,404448,Exact +GARD:0012931,ICD-10,Q87.0,NTBT +GARD:0012931,OMIM,615873,Exact +GARD:0012943,Orphanet,89936,Exact +GARD:0012943,UMLS,C0733682,Exact +GARD:0012943,UMLS,C3540852,Exact +GARD:0012943,UMLS,C3536984,Exact +GARD:0012943,OMIM,307800,Exact +GARD:0012943,ICD-10,E83.3,NTBT +GARD:0012943,SNOMED-CT,82236004,NA +GARD:0012949,OMIM,613477,Exact +GARD:0012949,DiseaseOntology,80438,NA +GARD:0012949,GeneticAlliance,8344,NA +GARD:0012949,UMLS,C3150731,NA +GARD:0012958,OMIM,613652,Exact +GARD:0012958,Orphanet,169147,NTBT +GARD:0012958,GeneticAlliance,7881,NA +GARD:0012958,UMLS,C3150902,NA +GARD:0012959,Orphanet,182058,Exact +GARD:0012963,SNOMED-CT,711409002,NA +GARD:0012963,Orphanet,352328,Exact +GARD:0012963,OMIM,614739,Exact +GARD:0012963,ICD-10,E71.1,NTBT +GARD:0012964,Orphanet,66634,Exact +GARD:0012964,ICD-10,E71.1,NTBT +GARD:0012964,SNOMED-CT,711412004,NA +GARD:0012964,OMIM,610198,Exact +GARD:0012964,UMLS,C1857776,Exact +GARD:0012966,SNOMED-CT,237950009,NA +GARD:0012966,Orphanet,289902,Exact +GARD:0012966,ICD-10,E71.1,NTBT +GARD:0012966,UMLS,C3696376,Exact +GARD:0012976,Orphanet,319558,Exact +GARD:0012976,OMIM,614890,Exact +GARD:0012976,ICD-10,D84.8,NTBT +GARD:0012976,SNOMED-CT,721877008,NA +GARD:0012977,Orphanet,748,Exact +GARD:0012977,ICD-10,D84.8,NTBT +GARD:0012977,UMLS,C3266863,Exact +GARD:0012978,SNOMED-CT,770722002,NA +GARD:0012978,Orphanet,401768,Exact +GARD:0012978,ICD-10,G71.3,NTBT +GARD:0012978,OMIM,615673,Exact +GARD:0012980,Orphanet,529468,Exact +GARD:0012980,ICD-10,C94.3,NTBT +GARD:0012983,SNOMED-CT,62578003,NA +GARD:0012983,Orphanet,90045,Exact +GARD:0012983,UMLS,C0342705,Exact +GARD:0012983,ICD-10,D52.8,NTBT +GARD:0012983,OMIM,229050,Exact +GARD:0012986,SNOMED-CT,725046003,NA +GARD:0012986,Orphanet,99901,Exact +GARD:0012986,ICD-10,E71.3,NTBT +GARD:0012986,UMLS,C1970173,Exact +GARD:0012986,OMIM,611126,Exact +GARD:0012987,Orphanet,314381,Exact +GARD:0012987,OMIM,614653,Exact +GARD:0012987,ICD-10,G60.8,NTBT +GARD:0012991,Orphanet,498359,Exact +GARD:0013003,Orphanet,90283,Exact +GARD:0013003,ICD-10,L93.2,NTBT +GARD:0013003,UMLS,C0406636,Exact +GARD:0013003,SNOMED-CT,200941006,NA +GARD:0013004,Orphanet,890,Exact +GARD:0013004,MedDRA,10047216,Exact +GARD:0013004,MeSH,D006504,Exact +GARD:0013004,ICD-11,DB98.6,Exact +GARD:0013004,UMLS,C0019156,Exact +GARD:0013004,ICD-10,K76.5,Exact +GARD:0013004,SNOMED-CT,65617004,NA +GARD:0013007,SNOMED-CT,74912001,NA +GARD:0013007,Orphanet,330041,Exact +GARD:0013007,OMIM,617973,BTNT +GARD:0013007,ICD-10,D74.0,NTBT +GARD:0013007,OMIM,617971,BTNT +GARD:0013011,Orphanet,156152,Exact +GARD:0013011,MeSH,D056648,Exact +GARD:0013011,UMLS,C2717865,Exact +GARD:0013015,Orphanet,66628,Exact +GARD:0013015,ICD-10,E66.8,NTBT +GARD:0013015,OMIM,614962,Exact +GARD:0013016,SNOMED-CT,771333006,NA +GARD:0013016,Orphanet,238569,Exact +GARD:0013016,OMIM,613148,BTNT +GARD:0013016,ICD-10,K52.8,NTBT +GARD:0013016,OMIM,612567,BTNT +GARD:0013019,OMIM,616277,Exact +GARD:0013019,UMLS,C4225391,NA +GARD:0013020,SNOMED-CT,238799002,NA +GARD:0013020,Orphanet,79490,Exact +GARD:0013020,ICD-11,LA90.11,Exact +GARD:0013020,ICD-10,D18.1,NTBT +GARD:0013025,Orphanet,79414,Exact +GARD:0013025,UMLS,C0343114,Exact +GARD:0013025,ICD-10,D23.4,NTBT +GARD:0013025,OMIM,162900,NTBT +GARD:0013025,SNOMED-CT,239124001,NA +GARD:0013030,Orphanet,3226,Exact +GARD:0013030,ICD-10,D46.7,NTBT +GARD:0013030,OMIM,614038,Exact +GARD:0013032,SNOMED-CT,784344009,NA +GARD:0013032,Orphanet,300570,Exact +GARD:0013032,OMIM,614039,Exact +GARD:0013032,ICD-10,Q04.3,NTBT +GARD:0013034,Orphanet,97253,Exact +GARD:0013034,UMLS,C0242363,Exact +GARD:0013034,ICD-10,E16.8,NTBT +GARD:0013034,ICD-11,2C10.1,Exact +GARD:0013040,Orphanet,542592,Exact +GARD:0013040,ICD-10,L92.1,Exact +GARD:0013040,ICD-11,EE80.1,Exact +GARD:0013041,OMIM,612304,Exact +GARD:0013041,GeneticAlliance,9397,NA +GARD:0013041,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/protein-c-deficiency,NA +GARD:0013041,UMLS,C2676759,NA +GARD:0013041,DiseaseOntology,111904,NA +GARD:0013043,SNOMED-CT,773581009,NA +GARD:0013043,Orphanet,329224,Exact +GARD:0013043,OMIM,615009,Exact +GARD:0013046,Orphanet,363976,Exact +GARD:0013046,ICD-10,D48.0,NTBT +GARD:0013046,UMLS,C0206638,Exact +GARD:0013046,SNOMED-CT,697970009,NA +GARD:0013047,Orphanet,363504,Exact +GARD:0013047,ICD-10,C62.1,NTBT +GARD:0013047,UMLS,C1336708,Exact +GARD:0013047,OMIM,273300,Exact +GARD:0013056,SNOMED-CT,718721006,NA +GARD:0013056,Orphanet,86816,Exact +GARD:0013056,OMIM,616000,Exact +GARD:0013056,ICD-10,R77.0,NTBT +GARD:0013058,Orphanet,65743,Exact +GARD:0013058,UMLS,C1867440,Exact +GARD:0013058,ICD-10,Q79.8,NTBT +GARD:0013058,OMIM,178110,Exact +GARD:0013058,SNOMED-CT,771269000,NA +GARD:0013059,SNOMED-CT,773396009,NA +GARD:0013059,Orphanet,329457,Exact +GARD:0013059,ICD-10,Q68.8,NTBT +GARD:0013059,OMIM,615065,Exact +GARD:0013060,Orphanet,439218,Exact +GARD:0013060,ICD-10,G40.4,NTBT +GARD:0013060,OMIM,613720,Exact +GARD:0013060,SNOMED-CT,778001003,NA +GARD:0013063,Orphanet,217008,Exact +GARD:0013063,ICD-10,Q27.4,NTBT +GARD:0013070,Orphanet,48162,Exact +GARD:0013070,MedDRA,10065580,Exact +GARD:0013070,ICD-10,G61.8,NTBT +GARD:0013070,UMLS,C1695985,Exact +GARD:0013072,Orphanet,30924,Exact +GARD:0013072,ICD-10,E83.4,NTBT +GARD:0013072,UMLS,C1865974,Exact +GARD:0013072,OMIM,602014,Exact +GARD:0013072,SNOMED-CT,711151004,NA +GARD:0013073,SNOMED-CT,35962006,NA +GARD:0013073,Orphanet,64754,Exact +GARD:0013073,OMIM,617025,Exact +GARD:0013073,UMLS,C0265987,Exact +GARD:0013073,ICD-10,Q82.5,NTBT +GARD:0013075,Orphanet,497188,Exact +GARD:0013075,ICD-10,C72.8,NTBT +GARD:0013085,OMIM,614558,Exact +GARD:0013085,GeneticAlliance,8341,NA +GARD:0013085,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/scn8a-related-epilepsy-with-encephalopathy,NA +GARD:0013085,DiseaseOntology,80445,NA +GARD:0013085,UMLS,C3281191,NA +GARD:0013085,SNOMED-CT,765170001,NA +GARD:0013101,SNOMED-CT,773728004,NA +GARD:0013101,Orphanet,199247,Exact +GARD:0013101,ICD-10,E27.8,NTBT +GARD:0013101,UMLS,C1852529,Exact +GARD:0013101,OMIM,611489,Exact +GARD:0013105,Orphanet,1652,Exact +GARD:0013105,OMIM,308990,BTNT +GARD:0013105,OMIM,300554,BTNT +GARD:0013105,ICD-10,N25.8,NTBT +GARD:0013105,OMIM,300555,BTNT +GARD:0013105,OMIM,300009,BTNT +GARD:0013105,UMLS,C1839874,Exact +GARD:0013105,MedDRA,10069199,Exact +GARD:0013105,SNOMED-CT,444645005,NA +GARD:0013105,UMLS,C0878681,Exact +GARD:0013105,MeSH,C545036,Exact +GARD:0013105,MeSH,D057973,Exact +GARD:0013105,OMIM,310468,BTNT +GARD:0013108,Orphanet,494433,Exact +GARD:0013108,ICD-10,E25.8,NTBT +GARD:0013108,OMIM,617053,Exact +GARD:0013110,Orphanet,438266,Exact +GARD:0013110,ICD-10,G04.8,NTBT +GARD:0013110,OMIM,184850,NTBT +GARD:0013110,UMLS,C1861457,Exact +GARD:0013111,Orphanet,459033,Exact +GARD:0013111,OMIM,616267,Exact +GARD:0013111,ICD-10,G60.2,NTBT +GARD:0013112,OMIM,615217,Exact +GARD:0013112,UMLS,C3554690,NA +GARD:0013112,DiseaseOntology,60557,NA +GARD:0013113,OMIM,616483,Exact +GARD:0013113,UMLS,C3809651,NA +GARD:0013114,Orphanet,370088,Exact +GARD:0013114,ICD-10,K72.0,NTBT +GARD:0013114,OMIM,615438,Exact +GARD:0013114,SNOMED-CT,774207004,NA +GARD:0013124,Orphanet,70591,Exact +GARD:0013124,MedDRA,10068739,Exact +GARD:0013124,ICD-11,BB01.3,Exact +GARD:0013124,UMLS,C2363973,Exact +GARD:0013124,OMIM,612862,Exact +GARD:0013124,SNOMED-CT,233947005,NA +GARD:0013125,Orphanet,435651,Exact +GARD:0013125,ICD-10,E88.1,NTBT +GARD:0013125,OMIM,615238,Exact +GARD:0013126,Orphanet,435660,Exact +GARD:0013126,OMIM,615980,Exact +GARD:0013126,ICD-10,E88.1,NTBT +GARD:0013136,OMIM,616083,Exact +GARD:0013136,DiseaseOntology,70060,NA +GARD:0013136,UMLS,C4015167,NA +GARD:0013137,Orphanet,369962,Exact +GARD:0013137,OMIM,309541,Exact +GARD:0013137,ICD-10,E71.1,NTBT +GARD:0013142,Orphanet,623801,Exact +GARD:0013154,Orphanet,609,Exact +GARD:0013154,OMIM,600334,Exact +GARD:0013154,UMLS,C1450052,Exact +GARD:0013154,UMLS,C1838244,Exact +GARD:0013154,MeSH,C536815,Exact +GARD:0013154,ICD-10,G71.0,NTBT +GARD:0013154,SNOMED-CT,698846009,NA +GARD:0013155,Orphanet,441452,Exact +GARD:0013155,OMIM,600881,NTBT +GARD:0013155,OMIM,116100,NTBT +GARD:0013155,OMIM,613763,NTBT +GARD:0013156,Orphanet,46484,Exact +GARD:0013156,UMLS,C0028945,Exact +GARD:0013157,Orphanet,47044,Exact +GARD:0013157,OMIM,605074,Exact +GARD:0013157,MeSH,C538614,Exact +GARD:0013157,UMLS,C2931899,Exact +GARD:0013157,ICD-10,C64,NTBT +GARD:0013157,UMLS,C0879257,Exact +GARD:0013157,SNOMED-CT,715561008,NA +GARD:0013158,SNOMED-CT,200946001,NA +GARD:0013158,Orphanet,36236,Exact +GARD:0013158,ICD-10,L00,Exact +GARD:0013158,MedDRA,10041929,Exact +GARD:0013158,UMLS,C0038165,Exact +GARD:0013158,MeSH,D013206,Exact +GARD:0013158,ICD-11,EA50.2,Exact +GARD:0013160,Orphanet,177,Exact +GARD:0013160,OMIM,616716,BTNT +GARD:0013160,OMIM,215100,BTNT +GARD:0013160,ICD-10,Q77.3,NTBT +GARD:0013160,OMIM,222765,BTNT +GARD:0013160,UMLS,C0282529,Exact +GARD:0013160,MeSH,D018902,Exact +GARD:0013160,OMIM,600121,BTNT +GARD:0013160,SNOMED-CT,56692003,NA +GARD:0013163,Orphanet,293355,Exact +GARD:0013163,ICD-10,E71.1,NTBT +GARD:0013167,Orphanet,411788,Exact +GARD:0013167,OMIM,190330,NTBT +GARD:0013167,SNOMED-CT,764523004,NA +GARD:0013168,Orphanet,454887,Exact +GARD:0013168,ICD-10,G31.0,NTBT +GARD:0013169,Orphanet,263463,Exact +GARD:0013169,UMLS,C2931649,Exact +GARD:0013169,OMIM,143095,Exact +GARD:0013169,ICD-10,Q74.8,NTBT +GARD:0013169,SNOMED-CT,725417001,NA +GARD:0013171,Orphanet,448242,Exact +GARD:0013171,OMIM,271630,BTNT +GARD:0013171,ICD-10,Q76.3,NTBT +GARD:0013171,OMIM,271530,BTNT +GARD:0013173,Orphanet,639,Exact +GARD:0013173,UMLS,C1736154,Exact +GARD:0013173,ICD-10,G61.8,NTBT +GARD:0013173,SNOMED-CT,718213001,NA +GARD:0013174,OMIM,157640,Exact +GARD:0013174,UMLS,C1834846,NA +GARD:0013174,DiseaseOntology,111521,NA +GARD:0013174,GeneticAlliance,7782,NA +GARD:0013175,Orphanet,319319,Exact +GARD:0013175,MedDRA,10064886,Exact +GARD:0013175,ICD-10,C64,NTBT +GARD:0013175,SNOMED-CT,765095002,NA +GARD:0013177,SNOMED-CT,724039002,NA +GARD:0013177,Orphanet,88618,Exact +GARD:0013177,ICD-10,E72.1,NTBT +GARD:0013177,OMIM,613752,Exact +GARD:0013177,UMLS,C3151058,Exact +GARD:0013179,OMIM,616977,Exact +GARD:0013179,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hivep2-related-intellectual-disability,NA +GARD:0013179,DiseaseOntology,70073,NA +GARD:0013179,UMLS,C4310771,NA +GARD:0013186,Orphanet,158003,Exact +GARD:0013186,MedDRA,10052575,Exact +GARD:0013186,ICD-10,D76.3,NTBT +GARD:0013186,UMLS,C0043322,Exact +GARD:0013186,SNOMED-CT,399970005,NA +GARD:0013197,OMIM,615369,Exact +GARD:0013197,DiseaseOntology,60475,NA +GARD:0013197,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/chd2-myoclonic-encephalopathy,NA +GARD:0013197,UMLS,C3809278,NA +GARD:0013198,Orphanet,500062,Exact +GARD:0013198,OMIM,617099,Exact +GARD:0013198,ICD-10,D89.8,NTBT +GARD:0013199,SNOMED-CT,720825005,NA +GARD:0013199,Orphanet,85136,Exact +GARD:0013199,UMLS,C2751843,Exact +GARD:0013199,ICD-10,E75.2,NTBT +GARD:0013199,OMIM,612951,Exact +GARD:0013199,MeSH,C567845,Exact +GARD:0013200,Orphanet,255235,Exact +GARD:0013200,SNOMED-CT,765100000,NA +GARD:0013200,OMIM,612075,Exact +GARD:0013200,ICD-10,G31.8,NTBT +GARD:0013201,Orphanet,401948,Exact +GARD:0013201,OMIM,615751,Exact +GARD:0013201,SNOMED-CT,764456001,NA +GARD:0013201,ICD-10,E74.8,NTBT +GARD:0013202,Orphanet,88639,Exact +GARD:0013202,SNOMED-CT,124427009,NA +GARD:0013202,OMIM,250620,Exact +GARD:0013202,ICD-10,E71.1,NTBT +GARD:0013202,UMLS,C0342738,Exact +GARD:0013206,SNOMED-CT,719659003,NA +GARD:0013206,Orphanet,251019,Exact +GARD:0013206,UMLS,C2676739,Exact +GARD:0013206,ICD-10,Q93.5,NTBT +GARD:0013206,OMIM,612313,Exact +GARD:0013209,SNOMED-CT,715727009,NA +GARD:0013209,Orphanet,95496,Exact +GARD:0013209,ICD-10,E23.6,NTBT +GARD:0013215,Orphanet,217071,Exact +GARD:0013215,MeSH,D002292,Exact +GARD:0013215,UMLS,C0007134,Exact +GARD:0013215,MedDRA,10067946,Exact +GARD:0013218,Orphanet,221043,Exact +GARD:0013218,OMIM,615704,Exact +GARD:0013218,ICD-10,Q82.8,NTBT +GARD:0013218,SNOMED-CT,771306007,NA +GARD:0013219,SNOMED-CT,765057007,NA +GARD:0013219,Orphanet,289539,Exact +GARD:0013219,OMIM,614327,Exact +GARD:0013219,ICD-10,D23.9,NTBT +GARD:0013221,Orphanet,397933,Exact +GARD:0013221,ICD-10,Q87.8,NTBT +GARD:0013221,SNOMED-CT,774149004,NA +GARD:0013222,Orphanet,363454,Exact +GARD:0013222,OMIM,615290,Exact +GARD:0013222,ICD-10,G12.1,NTBT +GARD:0013232,Orphanet,88619,Exact +GARD:0013232,OMIM,608033,Exact +GARD:0013232,ICD-10,G93.8,NTBT +GARD:0013232,SNOMED-CT,723359002,NA +GARD:0013235,OMIM,615524,Exact +GARD:0013235,UMLS,C3809803,NA +GARD:0013235,DiseaseOntology,111800,NA +GARD:0013237,Orphanet,300912,Exact +GARD:0013237,UMLS,C0242647,Exact +GARD:0013244,SNOMED-CT,719811001,NA +GARD:0013244,Orphanet,85293,Exact +GARD:0013244,ICD-10,Q87.8,NTBT +GARD:0013244,OMIM,300354,Exact +GARD:0013244,UMLS,C1845861,Exact +GARD:0013256,Orphanet,449427,Exact +GARD:0013256,ICD-10,G03.9,NTBT +GARD:0013259,SNOMED-CT,773400009,NA +GARD:0013259,Orphanet,352577,Exact +GARD:0013259,ICD-10,Q87.0,NTBT +GARD:0013259,OMIM,615485,Exact +GARD:0013264,SNOMED-CT,782822006,NA +GARD:0013264,Orphanet,313850,Exact +GARD:0013264,ICD-10,E88.8,NTBT +GARD:0013264,OMIM,614559,Exact +GARD:0013273,Orphanet,284417,Exact +GARD:0013273,ICD-10,E72.8,NTBT +GARD:0013273,UMLS,C1970253,Exact +GARD:0013273,OMIM,610992,Exact +GARD:0013273,SNOMED-CT,718603002,NA +GARD:0013293,Orphanet,98885,Exact +GARD:0013293,ICD-10,D69.8,NTBT +GARD:0013293,OMIM,614201,Exact +GARD:0013295,SNOMED-CT,764522009,NA +GARD:0013295,Orphanet,98820,Exact +GARD:0013295,ICD-10,G40.0,NTBT +GARD:0013295,OMIM,604364,BTNT +GARD:0013295,OMIM,617116,BTNT +GARD:0013295,OMIM,617118,BTNT +GARD:0013296,SNOMED-CT,764435003,NA +GARD:0013296,Orphanet,261272,Exact +GARD:0013296,ICD-10,Q92.3,NTBT +GARD:0013296,OMIM,614526,Exact +GARD:0013297,Orphanet,261265,Exact +GARD:0013297,ICD-10,Q93.5,NTBT +GARD:0013297,OMIM,614527,Exact +GARD:0013297,SNOMED-CT,733519008,NA +GARD:0013298,Orphanet,369897,Exact +GARD:0013298,OMIM,615471,Exact +GARD:0013298,ICD-10,E88.8,NTBT +GARD:0013316,Orphanet,398069,Exact +GARD:0013316,ICD-10,Q87.1,NTBT +GARD:0013316,OMIM,615547,Exact +GARD:0013318,OMIM,613722,Exact +GARD:0013318,GeneticAlliance,8340,NA +GARD:0013318,UMLS,C3150988,NA +GARD:0013318,DiseaseOntology,80459,NA +GARD:0013319,Orphanet,438178,Exact +GARD:0013319,ICD-10,E71.3,NTBT +GARD:0013319,OMIM,616154,Exact +GARD:0013320,Orphanet,468717,Exact +GARD:0013320,OMIM,616716,Exact +GARD:0013331,Orphanet,79147,Exact +GARD:0013331,UMLS,C1857624,Exact +GARD:0013331,OMIM,216700,Exact +GARD:0013331,ICD-10,L87.1,NTBT +GARD:0013337,Orphanet,98300,Exact +GARD:0013337,UMLS,C2350236,Exact +GARD:0013337,MeSH,D054988,Exact +GARD:0013339,Orphanet,464336,Exact +GARD:0013339,OMIM,616452,Exact +GARD:0013339,ICD-10,D81.8,NTBT +GARD:0013349,Orphanet,420584,Exact +GARD:0013349,ICD-10,Q87.8,NTBT +GARD:0013349,OMIM,615849,Exact +GARD:0013349,SNOMED-CT,763866005,NA +GARD:0013354,Orphanet,35737,Exact +GARD:0013354,UMLS,C0549307,Exact +GARD:0013354,MedDRA,10027974,Exact +GARD:0013354,OMIM,120430,NTBT +GARD:0013354,ICD-10,Q14.2,NTBT +GARD:0013371,Orphanet,324972,Exact +GARD:0013371,ICD-10,D89.8,NTBT +GARD:0013371,SNOMED-CT,238850005,NA +GARD:0013376,OMIM,614135,Exact +GARD:0013376,DiseaseOntology,70301,NA +GARD:0013376,UMLS,C2675767,NA +GARD:0013376,GeneticAlliance,8919,NA +GARD:0013378,OMIM,615473,Exact +GARD:0013378,DiseaseOntology,80450,NA +GARD:0013378,UMLS,C3809606,NA +GARD:0013379,OMIM,616078,Exact +GARD:0013379,DiseaseOntology,70059,NA +GARD:0013379,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/setbp1-disorder,NA +GARD:0013379,UMLS,C4015141,NA +GARD:0013388,SNOMED-CT,127012008,NA +GARD:0013388,Orphanet,528,Exact +GARD:0013388,MedDRA,10024603,Exact +GARD:0013388,UMLS,C0221032,Exact +GARD:0013388,UMLS,C0011859,Exact +GARD:0013388,OMIM,608594,BTNT +GARD:0013388,OMIM,612526,BTNT +GARD:0013388,OMIM,613327,BTNT +GARD:0013388,ICD-10,E88.1,NTBT +GARD:0013388,OMIM,606721,NTBT +GARD:0013388,OMIM,269700,BTNT +GARD:0013389,OMIM,612526,Exact +GARD:0013389,UMLS,C2675861,NA +GARD:0013389,DiseaseOntology,111137,NA +GARD:0013389,GeneticAlliance,8757,NA +GARD:0013390,Orphanet,94063,Exact +GARD:0013390,ICD-10,Q93.5,NTBT +GARD:0013390,SNOMED-CT,719046005,NA +GARD:0013391,SNOMED-CT,719651000,NA +GARD:0013391,Orphanet,261349,Exact +GARD:0013391,UMLS,C2675875,Exact +GARD:0013391,ICD-10,Q93.5,NTBT +GARD:0013391,OMIM,612513,Exact +GARD:0013409,Orphanet,412069,Exact +GARD:0013409,SNOMED-CT,774068004,NA +GARD:0013409,ICD-10,Q87.8,NTBT +GARD:0013409,OMIM,615829,Exact +GARD:0013418,Orphanet,453504,Exact +GARD:0013418,OMIM,616580,Exact +GARD:0013423,Orphanet,480864,Exact +GARD:0013423,OMIM,616878,Exact +GARD:0013423,ICD-10,G31.8,NTBT +GARD:0013425,Orphanet,447997,Exact +GARD:0013425,OMIM,616657,Exact +GARD:0013425,ICD-10,Q02,NTBT +GARD:0013431,SNOMED-CT,778012003,NA +GARD:0013431,Orphanet,254516,Exact +GARD:0013431,OMIM,616222,Exact +GARD:0013446,Orphanet,86855,Exact +GARD:0013446,ICD-11,2A83.2,Exact +GARD:0013446,UMLS,C0032131,Exact +GARD:0013446,SNOMED-CT,415112005,NA +GARD:0013446,ICD-10,C90.2,BTNT +GARD:0013446,MeSH,D010954,Exact +GARD:0013446,ICD-10,C90.3,BTNT +GARD:0013446,MedDRA,10035484,Exact +GARD:0013447,Orphanet,313936,Exact +GARD:0013447,SNOMED-CT,771473004,NA +GARD:0013451,Orphanet,464329,Exact +GARD:0013451,ICD-10,D18.1,NTBT +GARD:0013461,SNOMED-CT,721840000,NA +GARD:0013461,Orphanet,217330,Exact +GARD:0013461,ICD-10,Q61.5,NTBT +GARD:0013461,UMLS,C2751310,Exact +GARD:0013461,OMIM,613092,Exact +GARD:0013472,Orphanet,247790,Exact +GARD:0013472,ICD-10,E83.1,NTBT +GARD:0013472,OMIM,615517,Exact +GARD:0013474,Orphanet,468620,Exact +GARD:0013474,OMIM,617171,Exact +GARD:0013474,ICD-10,F78.8,NTBT +GARD:0013488,Orphanet,508093,Exact +GARD:0013488,OMIM,617282,Exact +GARD:0013488,ICD-10,E88.8,NTBT +GARD:0013489,Orphanet,500150,Exact +GARD:0013489,OMIM,617140,Exact +GARD:0013519,Orphanet,209341,Exact +GARD:0013519,OMIM,158600,Exact +GARD:0013519,ICD-10,G12.1,NTBT +GARD:0013519,UMLS,C1834690,Exact +GARD:0013524,OMIM,617854,Exact +GARD:0013524,UMLS,C4693389,NA +GARD:0013524,DiseaseOntology,80226,NA +GARD:0013527,Orphanet,464306,Exact +GARD:0013527,OMIM,614104,Exact +GARD:0013539,OMIM,616579,Exact +GARD:0013539,DiseaseOntology,70070,NA +GARD:0013539,UMLS,C4225275,NA +GARD:0013565,Orphanet,445018,Exact +GARD:0013565,OMIM,614700,Exact +GARD:0013565,ICD-10,D81.8,NTBT +GARD:0013568,SNOMED-CT,783198006,NA +GARD:0013568,Orphanet,320385,Exact +GARD:0013568,ICD-10,G11.4,NTBT +GARD:0013568,OMIM,615031,Exact +GARD:0013571,Orphanet,293955,Exact +GARD:0013571,OMIM,614458,Exact +GARD:0013571,ICD-10,G96.8,NTBT +GARD:0013571,SNOMED-CT,773668008,NA +GARD:0013587,Orphanet,157949,Exact +GARD:0013587,ICD-10,D81.1,NTBT +GARD:0013587,OMIM,233650,Exact +GARD:0013587,UMLS,C2673536,Exact +GARD:0013587,SNOMED-CT,783743009,NA +GARD:0013588,SNOMED-CT,240447002,NA +GARD:0013588,Orphanet,99748,Exact +GARD:0013588,UMLS,C0343528,Exact +GARD:0013588,ICD-10,A48.2,Exact +GARD:0013588,MedDRA,10054161,Exact +GARD:0013588,ICD-11,1C19.0,Exact +GARD:0013591,Orphanet,443236,Exact +GARD:0013591,OMIM,604715,Exact +GARD:0013591,ICD-10,I95.1,NTBT +GARD:0013592,Orphanet,42738,Exact +GARD:0013592,ICD-10,D70,NTBT +GARD:0013592,UMLS,C1853118,Exact +GARD:0013592,MedDRA,10052210,Exact +GARD:0013592,MeSH,C537592,Exact +GARD:0013593,SNOMED-CT,770682007,NA +GARD:0013593,Orphanet,251975,Exact +GARD:0013593,ICD-10,D33.1,NTBT +GARD:0013594,Orphanet,352649,Exact +GARD:0013594,ICD-10,G25.8,NTBT +GARD:0013594,OMIM,618049,Exact +GARD:0013594,SNOMED-CT,717942003,NA +GARD:0013606,Orphanet,48377,Exact +GARD:0013606,ICD-11,EB2Y,NTBT +GARD:0013606,ICD-10,L13.1,Exact +GARD:0013606,MedDRA,10042342,Exact +GARD:0013606,UMLS,C0600336,Exact +GARD:0013606,SNOMED-CT,25147002,NA +GARD:0013613,Orphanet,90066,Exact +GARD:0013613,ICD-10,J15.1,NTBT +GARD:0013613,UMLS,C0920182,Exact +GARD:0013621,Orphanet,448010,Exact +GARD:0013621,OMIM,616457,Exact +GARD:0013621,ICD-10,E77.8,NTBT +GARD:0013629,Orphanet,139402,Exact +GARD:0013629,ICD-10,T78.4,NTBT +GARD:0013629,UMLS,C3541994,Exact +GARD:0013629,ICD-11,EH65,Exact +GARD:0013629,MedDRA,10058919,Exact +GARD:0013629,UMLS,C1142139,Exact +GARD:0013629,SNOMED-CT,702809001,NA +GARD:0013636,Orphanet,457485,Exact +GARD:0013636,OMIM,616638,Exact +GARD:0013638,Orphanet,480880,Exact +GARD:0013638,OMIM,300968,Exact +GARD:0013639,SNOMED-CT,124354006,NA +GARD:0013639,Orphanet,79239,Exact +GARD:0013639,UMLS,C0268151,Exact +GARD:0013639,ICD-10,E74.2,NTBT +GARD:0013639,OMIM,230400,Exact +GARD:0013639,ICD-11,5C51.40,Exact +GARD:0013641,Orphanet,221061,Exact +GARD:0013641,OMIM,116860,Exact +GARD:0013641,UMLS,C2931263,Exact +GARD:0013641,OMIM,603284,BTNT +GARD:0013641,OMIM,603285,BTNT +GARD:0013641,ICD-10,Q28.3,NTBT +GARD:0013641,SNOMED-CT,717003001,NA +GARD:0013643,Orphanet,35698,Exact +GARD:0013643,ICD-11,5C53.20,Exact +GARD:0013643,MedDRA,10059396,Exact +GARD:0013643,UMLS,C0342782,Exact +GARD:0013643,SNOMED-CT,237995002,NA +GARD:0013644,Orphanet,279934,Exact +GARD:0013644,ICD-10,E88.8,NTBT +GARD:0013644,OMIM,251880,Exact +GARD:0013644,SNOMED-CT,783734000,NA +GARD:0013655,Orphanet,434179,Exact +GARD:0013655,OMIM,615948,Exact +GARD:0013655,ICD-10,Q87.0,NTBT +GARD:0013655,SNOMED-CT,763837007,NA +GARD:0013658,Orphanet,500180,Exact +GARD:0013658,OMIM,617672,Exact +GARD:0013658,ICD-10,G31.8,NTBT +GARD:0013661,Orphanet,324604,Exact +GARD:0013661,ICD-10,G71.2,NTBT +GARD:0013661,OMIM,602771,NTBT +GARD:0013663,SNOMED-CT,233913007,NA +GARD:0013663,Orphanet,166282,Exact +GARD:0013663,OMIM,182190,BTNT +GARD:0013663,MeSH,D012804,Exact +GARD:0013663,OMIM,163800,BTNT +GARD:0013663,MedDRA,10040639,Exact +GARD:0013663,OMIM,608567,Exact +GARD:0013663,ICD-10,I49.5,NTBT +GARD:0013663,ICD-11,BC80.20,NTBT +GARD:0013663,OMIM,614090,BTNT +GARD:0013663,UMLS,C0037052,Exact +GARD:0013676,OMIM,615476,Exact +GARD:0013676,UMLS,C3809624,NA +GARD:0013676,DiseaseOntology,80413,NA +GARD:0013686,OMIM,614254,Exact +GARD:0013686,GeneticAlliance,8831,NA +GARD:0013686,DiseaseOntology,70038,NA +GARD:0013686,UMLS,C3280282,NA +GARD:0013701,SNOMED-CT,404143002,NA +GARD:0013701,Orphanet,178540,Exact +GARD:0013701,ICD-10,C82.6,Exact +GARD:0013701,UMLS,C1333171,Exact +GARD:0013701,ICD-11,2A80.3,Exact +GARD:0013701,UMLS,C1631066,Exact +GARD:0013708,Orphanet,280558,Exact +GARD:0013708,OMIM,613398,Exact +GARD:0013708,SNOMED-CT,702829000,NA +GARD:0013712,SNOMED-CT,725290000,NA +GARD:0013712,Orphanet,231154,Exact +GARD:0013712,UMLS,C1835931,Exact +GARD:0013712,OMIM,609889,Exact +GARD:0013712,ICD-10,D81.8,NTBT +GARD:0013731,Orphanet,86871,Exact +GARD:0013731,UMLS,C0023494,Exact +GARD:0013731,ICD-11,2A90.0,Exact +GARD:0013731,MedDRA,10042985,Exact +GARD:0013731,UMLS,C2363142,Exact +GARD:0013731,MeSH,D015461,Exact +GARD:0013731,ICD-10,C91.6,Exact +GARD:0013731,SNOMED-CT,277567002,NA +GARD:0013737,OMIM,613744,Exact +GARD:0013737,GeneticAlliance,7943,NA +GARD:0013737,DiseaseOntology,110803,NA +GARD:0013737,UMLS,C3151056,NA +GARD:0013743,OMIM,259600,Exact +GARD:0013743,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/multicentric-osteolysis-nodulosis-and-arthropathy,NA +GARD:0013743,GeneticAlliance,7136,NA +GARD:0013743,UMLS,C1850155,NA +GARD:0013774,Orphanet,468678,Exact +GARD:0013774,OMIM,616364,Exact +GARD:0013781,Orphanet,250977,Exact +GARD:0013781,ICD-10,E79.8,NTBT +GARD:0013781,OMIM,608688,Exact +GARD:0013781,UMLS,C1837530,Exact +GARD:0013781,SNOMED-CT,725289009,NA +GARD:0013789,Orphanet,597738,Exact +GARD:0013806,Orphanet,599082,Exact +GARD:0013806,OMIM,618205,Exact +GARD:0013809,Orphanet,227796,Exact +GARD:0013809,OMIM,136880,Exact +GARD:0013809,UMLS,C0311338,Exact +GARD:0013809,ICD-10,H35.5,NTBT +GARD:0013809,SNOMED-CT,764939004,NA +GARD:0013811,SNOMED-CT,763795006,NA +GARD:0013811,Orphanet,420179,Exact +GARD:0013811,OMIM,614753,Exact +GARD:0013811,ICD-10,Q87.3,NTBT +GARD:0013818,Orphanet,506334,Exact +GARD:0013818,ICD-10,E88.8,NTBT +GARD:0013818,OMIM,617575,Exact +GARD:0013824,Orphanet,324977,Exact +GARD:0013824,OMIM,618048,BTNT +GARD:0013824,OMIM,619175,BTNT +GARD:0013824,OMIM,619183,BTNT +GARD:0013824,OMIM,617591,BTNT +GARD:0013824,ICD-10,D89.8,NTBT +GARD:0013824,OMIM,256040,BTNT +GARD:0015000,Orphanet,99812,Exact +GARD:0015000,ICD-10,D81.1,NTBT +GARD:0015000,OMIM,606593,Exact +GARD:0015000,UMLS,C1847827,Exact +GARD:0015000,SNOMED-CT,724177005,NA +GARD:0015001,Orphanet,596753,Exact +GARD:0015001,OMIM,301054,Exact +GARD:0015003,Orphanet,566175,Exact +GARD:0015003,OMIM,226300,Exact +GARD:0015004,SNOMED-CT,723334006,NA +GARD:0015004,Orphanet,306550,Exact +GARD:0015004,ICD-10,D89.8,NTBT +GARD:0015004,OMIM,613759,Exact +GARD:0015010,Orphanet,145,Exact +GARD:0015010,OMIM,604370,BTNT +GARD:0015010,OMIM,612555,BTNT +GARD:0015010,UMLS,C0677776,Exact +GARD:0015010,ICD-10,C56,ND (not yet decided/unable to decide) +GARD:0015010,OMIM,614291,BTNT +GARD:0015010,ICD-10,C50,ND (not yet decided/unable to decide) +GARD:0015010,OMIM,613399,BTNT +GARD:0015010,SNOMED-CT,718220008,NA +GARD:0015011,OMIM,300554,Exact +GARD:0015011,DiseaseOntology,80353,NA +GARD:0015011,GeneticAlliance,8621,NA +GARD:0015011,UMLS,C1845168,NA +GARD:0015012,SNOMED-CT,367489004,NA +GARD:0015012,Orphanet,667,Exact +GARD:0015012,ICD-10,Q78.2,NTBT +GARD:0015012,OMIM,615085,BTNT +GARD:0015012,OMIM,259710,BTNT +GARD:0015012,OMIM,611490,BTNT +GARD:0015012,UMLS,C1318518,Exact +GARD:0015012,OMIM,259700,BTNT +GARD:0015013,SNOMED-CT,36601008,NA +GARD:0015013,Orphanet,1522,Exact +GARD:0015013,OMIM,123000,BTNT +GARD:0015013,OMIM,218400,BTNT +GARD:0015013,ICD-10,Q78.8,NTBT +GARD:0015013,UMLS,C3887594,Exact +GARD:0015014,SNOMED-CT,134335004,NA +GARD:0015014,Orphanet,2126,Exact +GARD:0015014,UMLS,C0018922,Exact +GARD:0015014,UMLS,C1266119,Exact +GARD:0015014,MedDRA,10018825,Exact +GARD:0015014,OMIM,234820,BTNT +GARD:0015014,ICD-10,D21.9,NTBT +GARD:0015014,MeSH,D006393,Exact +GARD:0015015,SNOMED-CT,56852002,NA +GARD:0015015,Orphanet,49382,Exact +GARD:0015015,MedDRA,10000454,Exact +GARD:0015015,OMIM,216900,Exact +GARD:0015015,OMIM,262300,BTNT +GARD:0015015,OMIM,613093,NTBT +GARD:0015015,OMIM,613856,BTNT +GARD:0015015,ICD-10,H53.5,NTBT +GARD:0015015,OMIM,610024,BTNT +GARD:0015015,UMLS,C0152200,Exact +GARD:0015015,OMIM,616517,BTNT +GARD:0015016,Orphanet,50942,Exact +GARD:0015016,OMIM,612908,BTNT +GARD:0015016,OMIM,148700,NTBT +GARD:0015016,SNOMED-CT,764958008,NA +GARD:0015016,OMIM,607654,BTNT +GARD:0015016,ICD-10,Q82.8,NTBT +GARD:0015017,Orphanet,77258,Exact +GARD:0015017,ICD-10,Q87.1,NTBT +GARD:0015017,OMIM,190351,BTNT +GARD:0015017,OMIM,190350,BTNT +GARD:0015017,SNOMED-CT,818959006,NA +GARD:0015018,Orphanet,1478,Exact +GARD:0015018,UMLS,C0018817,Exact +GARD:0015018,OMIM,614089,BTNT +GARD:0015018,MeSH,D006344,Exact +GARD:0015018,OMIM,614475,BTNT +GARD:0015018,OMIM,614433,BTNT +GARD:0015018,ICD-10,Q21.1,Exact +GARD:0015018,OMIM,613087,BTNT +GARD:0015018,ICD-11,LA8E.Y,NTBT +GARD:0015018,MedDRA,10068864,Exact +GARD:0015018,OMIM,612794,BTNT +GARD:0015018,UMLS,C2609256,Exact +GARD:0015018,OMIM,108800,Exact +GARD:0015018,OMIM,607941,BTNT +GARD:0015018,OMIM,611363,BTNT +GARD:0015018,MedDRA,10003664,Exact +GARD:0015018,SNOMED-CT,405752007,NA +GARD:0015019,Orphanet,84090,Exact +GARD:0015019,ICD-10,N07.6,NTBT +GARD:0015019,SNOMED-CT,818952002,NA +GARD:0015019,OMIM,601894,BTNT +GARD:0015019,UMLS,C3888104,Exact +GARD:0015019,UMLS,C1866075,Exact +GARD:0015019,ICD-11,MF81,Exact +GARD:0015019,OMIM,137950,Exact +GARD:0015020,SNOMED-CT,32390006,NA +GARD:0015020,Orphanet,90695,Exact +GARD:0015020,OMIM,312000,BTNT +GARD:0015020,UMLS,C0242343,Exact +GARD:0015020,OMIM,262600,BTNT +GARD:0015020,MedDRA,10033662,Exact +GARD:0015020,ICD-10,E23.0,NTBT +GARD:0015021,Orphanet,95429,Exact +GARD:0015021,OMIM,300652,BTNT +GARD:0015021,OMIM,106050,BTNT +GARD:0015021,ICD-10,L81.7,NTBT +GARD:0015021,SNOMED-CT,49465005,NA +GARD:0015022,Orphanet,98913,Exact +GARD:0015022,OMIM,616314,BTNT +GARD:0015022,OMIM,608931,BTNT +GARD:0015022,OMIM,616325,BTNT +GARD:0015022,OMIM,616304,BTNT +GARD:0015022,OMIM,254300,BTNT +GARD:0015022,OMIM,615120,BTNT +GARD:0015022,OMIM,605809,BTNT +GARD:0015022,OMIM,601462,BTNT +GARD:0015022,OMIM,614198,BTNT +GARD:0015022,OMIM,616321,BTNT +GARD:0015022,ICD-10,G70.2,NTBT +GARD:0015022,OMIM,608930,BTNT +GARD:0015022,OMIM,616324,BTNT +GARD:0015022,OMIM,616323,BTNT +GARD:0015022,OMIM,616313,BTNT +GARD:0015022,OMIM,616720,BTNT +GARD:0015022,OMIM,616322,BTNT +GARD:0015022,OMIM,616326,BTNT +GARD:0015023,Orphanet,98914,Exact +GARD:0015023,OMIM,254210,BTNT +GARD:0015023,OMIM,617239,BTNT +GARD:0015023,OMIM,618197,BTNT +GARD:0015023,OMIM,617143,BTNT +GARD:0015023,OMIM,618323,BTNT +GARD:0015023,OMIM,616330,BTNT +GARD:0015023,OMIM,618198,Exact +GARD:0015023,OMIM,615120,BTNT +GARD:0015023,ICD-10,G70.2,NTBT +GARD:0015023,UMLS,C0751884,Exact +GARD:0015023,OMIM,616040,BTNT +GARD:0015023,OMIM,616720,BTNT +GARD:0015024,Orphanet,166002,Exact +GARD:0015024,OMIM,614135,BTNT +GARD:0015024,SNOMED-CT,766717008,NA +GARD:0015024,OMIM,600969,BTNT +GARD:0015024,OMIM,600204,BTNT +GARD:0015024,ICD-10,Q77.3,NTBT +GARD:0015025,SNOMED-CT,234593008,NA +GARD:0015025,Orphanet,169147,Exact +GARD:0015025,OMIM,614379,BTNT +GARD:0015025,ICD-11,4A00.10,Exact +GARD:0015025,OMIM,614380,BTNT +GARD:0015025,OMIM,613783,BTNT +GARD:0015025,OMIM,217000,BTNT +GARD:0015025,OMIM,216950,BTNT +GARD:0015025,OMIM,613652,BTNT +GARD:0015025,ICD-10,D84.1,NTBT +GARD:0015026,Orphanet,183678,Exact +GARD:0015026,ICD-10,E70.3,NTBT +GARD:0015026,OMIM,608233,BTNT +GARD:0015026,UMLS,C1842362,Exact +GARD:0015026,OMIM,617050,BTNT +GARD:0015027,Orphanet,199241,Exact +GARD:0015027,OMIM,234810,BTNT +GARD:0015027,ICD-10,D18.0,NTBT +GARD:0015027,UMLS,C0340548,Exact +GARD:0015027,MeSH,C535861,Exact +GARD:0015027,SNOMED-CT,233949008,NA +GARD:0015028,Orphanet,442835,Exact +GARD:0015028,OMIM,617153,BTNT +GARD:0015028,OMIM,617020,BTNT +GARD:0015028,OMIM,618396,BTNT +GARD:0015028,OMIM,618910,BTNT +GARD:0015028,OMIM,617166,BTNT +GARD:0015028,OMIM,617854,BTNT +GARD:0015028,OMIM,618959,BTNT +GARD:0015028,OMIM,616339,BTNT +GARD:0015028,OMIM,617831,BTNT +GARD:0015028,OMIM,616366,BTNT +GARD:0015028,OMIM,617105,BTNT +GARD:0015028,OMIM,617938,BTNT +GARD:0015028,OMIM,301058,BTNT +GARD:0015028,OMIM,617836,BTNT +GARD:0015028,OMIM,615905,BTNT +GARD:0015028,OMIM,618012,BTNT +GARD:0015028,OMIM,619124,BTNT +GARD:0015028,OMIM,617829,BTNT +GARD:0015028,OMIM,617830,BTNT +GARD:0015028,OMIM,615871,BTNT +GARD:0015028,OMIM,618437,BTNT +GARD:0015028,OMIM,616056,BTNT +GARD:0015028,OMIM,618468,BTNT +GARD:0015028,OMIM,616409,BTNT +GARD:0015028,OMIM,616211,BTNT +GARD:0015028,OMIM,618201,BTNT +GARD:0015028,OMIM,617106,BTNT +GARD:0015028,OMIM,614558,BTNT +GARD:0015028,OMIM,617132,BTNT +GARD:0015028,OMIM,301008,BTNT +GARD:0015028,OMIM,618557,BTNT +GARD:0015028,OMIM,618008,BTNT +GARD:0015028,ICD-10,G40.4,NTBT +GARD:0015028,OMIM,618559,BTNT +GARD:0015028,OMIM,618916,BTNT +GARD:0015028,OMIM,615833,BTNT +GARD:0015028,OMIM,617162,BTNT +GARD:0015028,OMIM,615476,BTNT +GARD:0015028,OMIM,616346,BTNT +GARD:0015029,OMIM,100050,Exact +GARD:0015029,DiseaseOntology,111825,NA +GARD:0015029,UMLS,C3149220,NA +GARD:0015030,OMIM,101800,Exact +GARD:0015030,DiseaseOntology,14669,NA +GARD:0015030,GeneticAlliance,145,NA +GARD:0015030,UMLS,C3276228,NA +GARD:0015031,OMIM,102400,Exact +GARD:0015031,SNOMED-CT,63122002,NA +GARD:0015031,UMLS,C0917990,NA +GARD:0015031,SNOMED-CT,27201004,NA +GARD:0015032,OMIM,102530,Exact +GARD:0015032,DiseaseOntology,70167,NA +GARD:0015032,GeneticAlliance,9326,NA +GARD:0015032,SNOMED-CT,236818008,NA +GARD:0015032,UMLS,C0403825,NA +GARD:0015032,UMLS,C4225503,NA +GARD:0015033,OMIM,103230,Exact +GARD:0015033,DiseaseOntology,13774,NA +GARD:0015033,SNOMED-CT,12427005,NA +GARD:0015033,UMLS,C0271740,NA +GARD:0015034,OMIM,103920,Exact +GARD:0015034,DiseaseOntology,13166,NA +GARD:0015034,UMLS,C3278302,NA +GARD:0015034,GeneticAlliance,310,NA +GARD:0015035,OMIM,104000,Exact +GARD:0015035,UMLS,C0263505,NA +GARD:0015035,SNOMED-CT,86166000,NA +GARD:0015035,DiseaseOntology,986,NA +GARD:0015035,UMLS,C1863094,NA +GARD:0015035,ICD-10-CM,L63.1,NA +GARD:0015036,OMIM,104290,Exact +GARD:0015036,UMLS,C3549447,NA +GARD:0015036,GeneticAlliance,342,NA +GARD:0015036,DiseaseOntology,50635,NA +GARD:0015037,OMIM,104500,Exact +GARD:0015037,DiseaseOntology,110052,NA +GARD:0015037,UMLS,C0399368,NA +GARD:0015037,SNOMED-CT,234961008,NA +GARD:0015037,GeneticAlliance,366,NA +GARD:0015038,OMIM,104530,Exact +GARD:0015038,UMLS,C4011403,NA +GARD:0015038,DiseaseOntology,110054,NA +GARD:0015039,OMIM,105650,Exact +GARD:0015039,DiseaseOntology,111895,NA +GARD:0015039,GeneticAlliance,9732,NA +GARD:0015039,UMLS,C2676137,NA +GARD:0015040,OMIM,107000,Exact +GARD:0015040,UMLS,C3275544,NA +GARD:0015040,DiseaseOntology,80084,NA +GARD:0015041,OMIM,108420,Exact +GARD:0015041,DiseaseOntology,70164,NA +GARD:0015041,UMLS,C1862459,NA +GARD:0015042,OMIM,109543,Exact +GARD:0015042,DiseaseOntology,1040,NA +GARD:0015042,UMLS,C1868683,NA +GARD:0015043,OMIM,109720,Exact +GARD:0015043,UMLS,C0008312,NA +GARD:0015043,ICD-10-CM,K74.3,NA +GARD:0015043,GeneticAlliance,5940,NA +GARD:0015043,SNOMED-CT,31712002,NA +GARD:0015043,DiseaseOntology,12236,NA +GARD:0015043,UMLS,C4551595,NA +GARD:0015043,SNOMED-CT,1761006,NA +GARD:0015044,OMIM,109740,Exact +GARD:0015044,UMLS,C2751431,NA +GARD:0015045,OMIM,113700,Exact +GARD:0015045,ICD-10-CM,Q83.0,NA +GARD:0015045,UMLS,C0432357,NA +GARD:0015045,GeneticAlliance,80,NA +GARD:0015045,SNOMED-CT,271020004,NA +GARD:0015046,OMIM,115660,Exact +GARD:0015046,SNOMED-CT,204138006,NA +GARD:0015046,UMLS,C0344523,NA +GARD:0015046,DiseaseOntology,110260,NA +GARD:0015047,OMIM,116200,Exact +GARD:0015047,UMLS,C1861828,NA +GARD:0015047,GeneticAlliance,7927,NA +GARD:0015047,DiseaseOntology,110231,NA +GARD:0015048,OMIM,117550,Exact +GARD:0015048,UMLS,C0175695,NA +GARD:0015048,ICD-10-CM,Q87.3,NA +GARD:0015048,UMLS,C4551477,NA +GARD:0015048,DiseaseOntology,112103,NA +GARD:0015048,SNOMED-CT,75968004,NA +GARD:0015048,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/sotos-syndrome,NA +GARD:0015049,OMIM,118100,Exact +GARD:0015049,DiseaseOntology,80589,NA +GARD:0015049,UMLS,C1861689,NA +GARD:0015049,GeneticAlliance,8710,NA +GARD:0015050,OMIM,119100,Exact +GARD:0015050,SNOMED-CT,715531000,NA +GARD:0015050,UMLS,C1861553,NA +GARD:0015050,GeneticAlliance,1658,NA +GARD:0015050,UMLS,C4551989,NA +GARD:0015051,OMIM,120100,Exact +GARD:0015051,GeneticAlliance,2732,NA +GARD:0015051,ICD-10-CM,M04.2,NA +GARD:0015051,DiseaseOntology,90062,NA +GARD:0015051,UMLS,C0343068,NA +GARD:0015051,SNOMED-CT,238687000,NA +GARD:0015051,UMLS,C4551895,NA +GARD:0015052,OMIM,120435,Exact +GARD:0015052,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/lynch-syndrome,NA +GARD:0015052,DiseaseOntology,70271,NA +GARD:0015052,GeneticAlliance,1748,NA +GARD:0015052,UMLS,C2936783,NA +GARD:0015053,OMIM,120502,Exact +GARD:0015053,DiseaseOntology,60232,NA +GARD:0015053,UMLS,C1852718,NA +GARD:0015054,OMIM,121201,Exact +GARD:0015054,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/benign-familial-neonatal-seizures,NA +GARD:0015054,DiseaseOntology,14264,NA +GARD:0015054,GeneticAlliance,7806,NA +GARD:0015054,UMLS,C1852581,NA +GARD:0015055,OMIM,123700,Exact +GARD:0015055,DiseaseOntology,70130,NA +GARD:0015055,UMLS,C3276539,NA +GARD:0015056,OMIM,124000,Exact +GARD:0015056,GeneticAlliance,4825,NA +GARD:0015056,UMLS,C3541471,NA +GARD:0015056,DiseaseOntology,80111,NA +GARD:0015057,OMIM,125250,Exact +GARD:0015057,UMLS,C3276549,NA +GARD:0015057,DiseaseOntology,111340,NA +GARD:0015058,OMIM,125800,Exact +GARD:0015058,DiseaseOntology,81061,NA +GARD:0015058,GeneticAlliance,8974,NA +GARD:0015058,UMLS,C1563706,NA +GARD:0015059,OMIM,126050,Exact +GARD:0015059,UMLS,C1852085,NA +GARD:0015059,DiseaseOntology,111596,NA +GARD:0015059,GeneticAlliance,6401,NA +GARD:0015060,OMIM,126700,Exact +GARD:0015060,SNOMED-CT,312926005,NA +GARD:0015060,GeneticAlliance,7804,NA +GARD:0015060,UMLS,C0730295,NA +GARD:0015060,DiseaseOntology,60746,NA +GARD:0015061,OMIM,128100,Exact +GARD:0015061,DiseaseOntology,60730,NA +GARD:0015061,GeneticAlliance,2406,NA +GARD:0015061,UMLS,C1851945,NA +GARD:0015061,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/early-onset-isolated-dystonia/,NA +GARD:0015061,UMLS,C3888090,NA +GARD:0015062,OMIM,129600,Exact +GARD:0015062,DiseaseOntology,111150,NA +GARD:0015062,GeneticAlliance,8293,NA +GARD:0015062,UMLS,C3541518,NA +GARD:0015063,OMIM,129900,Exact +GARD:0015063,DiseaseOntology,60784,NA +GARD:0015063,UMLS,C1851841,NA +GARD:0015064,OMIM,130600,Exact +GARD:0015064,DiseaseOntology,2373,NA +GARD:0015064,UMLS,C1851741,NA +GARD:0015065,OMIM,132100,Exact +GARD:0015065,DiseaseOntology,60281,NA +GARD:0015065,SNOMED-CT,90128006,NA +GARD:0015065,UMLS,C1868677,NA +GARD:0015065,UMLS,C0349506,NA +GARD:0015066,OMIM,133180,Exact +GARD:0015066,UMLS,C5552985,NA +GARD:0015067,OMIM,133540,Exact +GARD:0015067,DiseaseOntology,80908,NA +GARD:0015067,UMLS,C0751038,NA +GARD:0015067,GeneticAlliance,1703,NA +GARD:0015068,OMIM,133780,Exact +GARD:0015068,ICD-10-CM,H35.17,NA +GARD:0015068,GeneticAlliance,8378,NA +GARD:0015068,ICD-10-CM,H35.10,NA +GARD:0015068,ICD-10-CM,H35.1,NA +GARD:0015068,UMLS,C1851402,NA +GARD:0015068,SNOMED-CT,415297005,NA +GARD:0015068,UMLS,C0035344,NA +GARD:0015068,DiseaseOntology,111412,NA +GARD:0015069,OMIM,134610,Exact +GARD:0015069,GeneticAlliance,8401,NA +GARD:0015069,UMLS,C1851347,NA +GARD:0015069,DiseaseOntology,2987,NA +GARD:0015070,OMIM,135290,Exact +GARD:0015070,UMLS,C1851124,NA +GARD:0015070,DiseaseOntology,111349,NA +GARD:0015070,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/desmoid-tumor,NA +GARD:0015070,GeneticAlliance,2216,NA +GARD:0015071,OMIM,135500,Exact +GARD:0015071,GeneticAlliance,4062,NA +GARD:0015071,UMLS,C0796013,NA +GARD:0015071,SNOMED-CT,699447001,NA +GARD:0015071,UMLS,C4551773,NA +GARD:0015072,OMIM,135900,Exact +GARD:0015072,GeneticAlliance,1710,NA +GARD:0015072,UMLS,C3281201,NA +GARD:0015072,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/coffin-siris-syndrome,NA +GARD:0015072,UMLS,C0265338,NA +GARD:0015072,SNOMED-CT,10007009,NA +GARD:0015072,DiseaseOntology,70042,NA +GARD:0015076,OMIM,142623,Exact +GARD:0015076,UMLS,C3888239,NA +GARD:0015077,OMIM,144250,Exact +GARD:0015077,UMLS,C0020474,NA +GARD:0015077,ICD-10-CM,E78.49,NA +GARD:0015077,SNOMED-CT,238040008,NA +GARD:0015077,DiseaseOntology,13809,NA +GARD:0015077,SNOMED-CT,299465007,NA +GARD:0015077,GeneticAlliance,8593,NA +GARD:0015078,OMIM,146550,Exact +GARD:0015078,DiseaseOntology,110701,NA +GARD:0015078,GeneticAlliance,4477,NA +GARD:0015078,UMLS,C2750815,NA +GARD:0015079,OMIM,147480,Exact +GARD:0015079,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/intrahepatic-cholestasis-of-pregnancy,NA +GARD:0015079,DiseaseOntology,70228,NA +GARD:0015079,GeneticAlliance,1348,NA +GARD:0015079,UMLS,C3549845,NA +GARD:0015080,OMIM,148000,Exact +GARD:0015080,UMLS,C3541461,NA +GARD:0015080,UMLS,C3538945,NA +GARD:0015080,GeneticAlliance,1655,NA +GARD:0015081,OMIM,148600,Exact +GARD:0015081,UMLS,C1835662,NA +GARD:0015081,DiseaseOntology,80214,NA +GARD:0015081,SNOMED-CT,717184007,NA +GARD:0015081,GeneticAlliance,3984,NA +GARD:0015082,OMIM,153670,Exact +GARD:0015082,UMLS,C3277076,NA +GARD:0015082,GeneticAlliance,7812,NA +GARD:0015082,DiseaseOntology,111059,NA +GARD:0015083,OMIM,154230,Exact +GARD:0015083,UMLS,C2752149,NA +GARD:0015083,DiseaseOntology,111771,NA +GARD:0015086,OMIM,157600,Exact +GARD:0015086,UMLS,C1834870,NA +GARD:0015086,GeneticAlliance,8895,NA +GARD:0015087,OMIM,158900,Exact +GARD:0015087,ICD-10-CM,G71.02,NA +GARD:0015087,SNOMED-CT,399091004,NA +GARD:0015087,UMLS,C5399970,NA +GARD:0015087,GeneticAlliance,2704,NA +GARD:0015087,UMLS,C0238288,NA +GARD:0015087,DiseaseOntology,111192,NA +GARD:0015087,UMLS,C1834673,NA +GARD:0015088,OMIM,158901,Exact +GARD:0015088,DiseaseOntology,111193,NA +GARD:0015088,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/facioscapulohumeral-muscular-dystrophy,NA +GARD:0015088,UMLS,C1834671,NA +GARD:0015089,OMIM,159050,Exact +GARD:0015089,DiseaseOntology,9884,NA +GARD:0015089,UMLS,C1834652,NA +GARD:0015090,OMIM,160980,Exact +GARD:0015090,SNOMED-CT,733491005,NA +GARD:0015090,GeneticAlliance,7902,NA +GARD:0015090,DiseaseOntology,50471,NA +GARD:0015090,UMLS,C0406810,NA +GARD:0015090,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/carney-complex,NA +GARD:0015090,UMLS,C2607929,NA +GARD:0015091,OMIM,161400,Exact +GARD:0015091,UMLS,C1834372,NA +GARD:0015091,DiseaseOntology,8986,NA +GARD:0015091,GeneticAlliance,5103,NA +GARD:0015092,OMIM,161550,Exact +GARD:0015092,UMLS,C2750548,NA +GARD:0015092,DiseaseOntology,9261,NA +GARD:0015093,OMIM,613956,Exact +GARD:0015093,DiseaseOntology,2058,NA +GARD:0015093,GeneticAlliance,7886,NA +GARD:0015093,UMLS,C3151405,NA +GARD:0015094,OMIM,162260,Exact +GARD:0015094,UMLS,C2931480,NA +GARD:0015095,OMIM,162400,Exact +GARD:0015095,DiseaseOntology,70152,NA +GARD:0015095,SNOMED-CT,230553002,NA +GARD:0015095,UMLS,C0020071,NA +GARD:0015095,GeneticAlliance,5199,NA +GARD:0015095,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hereditary-sensory-neuropathy-type-ia,NA +GARD:0015095,SNOMED-CT,860813007,NA +GARD:0015095,UMLS,C5235211,NA +GARD:0015095,SNOMED-CT,397734008,NA +GARD:0015096,OMIM,163500,Exact +GARD:0015096,DiseaseOntology,110863,NA +GARD:0015096,GeneticAlliance,9010,NA +GARD:0015096,UMLS,C1876182,NA +GARD:0015097,OMIM,164310,Exact +GARD:0015097,UMLS,C5231388,NA +GARD:0015097,UMLS,C1834014,NA +GARD:0015097,SNOMED-CT,763829004,NA +GARD:0015098,OMIM,165200,Exact +GARD:0015098,UMLS,C1833830,NA +GARD:0015098,DiseaseOntology,111756,NA +GARD:0015099,OMIM,165500,Exact +GARD:0015099,UMLS,C0338508,NA +GARD:0015099,GeneticAlliance,8280,NA +GARD:0015099,DiseaseOntology,111441,NA +GARD:0015099,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/optic-atrophy-type-1,NA +GARD:0015099,SNOMED-CT,717336005,NA +GARD:0015100,OMIM,166230,Exact +GARD:0015100,DiseaseOntology,110335,NA +GARD:0015100,UMLS,C1833748,NA +GARD:0015101,OMIM,167100,Exact +GARD:0015101,UMLS,C2674695,NA +GARD:0015102,OMIM,167200,Exact +GARD:0015102,UMLS,C1706595,NA +GARD:0015102,SNOMED-CT,39427000,NA +GARD:0015102,GeneticAlliance,3894,NA +GARD:0015103,OMIM,167210,Exact +GARD:0015103,UMLS,C1721007,NA +GARD:0015103,GeneticAlliance,5526,NA +GARD:0015104,OMIM,167755,Exact +GARD:0015104,UMLS,C1868659,NA +GARD:0015105,OMIM,171300,Exact +GARD:0015105,UMLS,C3149711,NA +GARD:0015105,DiseaseOntology,50771,NA +GARD:0015105,GeneticAlliance,5718,NA +GARD:0015105,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/nonsyndromic-paraganglioma,NA +GARD:0015105,UMLS,C0031511,NA +GARD:0015106,OMIM,175510,Exact +GARD:0015106,UMLS,C5193005,NA +GARD:0015107,OMIM,175780,Exact +GARD:0015107,UMLS,C4551998,NA +GARD:0015107,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-porencephaly,NA +GARD:0015107,DiseaseOntology,90125,NA +GARD:0015107,UMLS,C2675650,NA +GARD:0015107,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/col4a1-related-brain-small-vessel-disease,NA +GARD:0015107,GeneticAlliance,2767,NA +GARD:0015108,OMIM,175800,Exact +GARD:0015108,SNOMED-CT,80432009,NA +GARD:0015108,GeneticAlliance,5874,NA +GARD:0015108,UMLS,C0949506,NA +GARD:0015108,DiseaseOntology,3805,NA +GARD:0015109,OMIM,179900,Exact +GARD:0015109,UMLS,C1867331,NA +GARD:0015110,OMIM,180105,Exact +GARD:0015110,UMLS,C1867299,NA +GARD:0015110,GeneticAlliance,9223,NA +GARD:0015110,DiseaseOntology,110388,NA +GARD:0015111,OMIM,180210,Exact +GARD:0015111,UMLS,C1867261,NA +GARD:0015111,DiseaseOntology,110420,NA +GARD:0015112,OMIM,181460,Exact +GARD:0015112,DiseaseOntology,50597,NA +GARD:0015112,GeneticAlliance,6440,NA +GARD:0015112,UMLS,C1866993,NA +GARD:0015113,OMIM,182950,Exact +GARD:0015113,UMLS,C1710146,NA +GARD:0015113,ICD-10-CM,G03.9,NA +GARD:0015113,SNOMED-CT,426055002,NA +GARD:0015114,OMIM,184100,Exact +GARD:0015114,GeneticAlliance,6825,NA +GARD:0015114,UMLS,C1866717,NA +GARD:0015114,DiseaseOntology,112285,NA +GARD:0015115,OMIM,186500,Exact +GARD:0015115,DiseaseOntology,50794,NA +GARD:0015115,UMLS,C4551826,NA +GARD:0015115,UMLS,C0342282,NA +GARD:0015115,GeneticAlliance,4973,NA +GARD:0015116,OMIM,187760,Exact +GARD:0015116,SNOMED-CT,723556008,NA +GARD:0015116,UMLS,C1861197,NA +GARD:0015116,GeneticAlliance,7068,NA +GARD:0015117,OMIM,187900,Exact +GARD:0015117,DiseaseOntology,111049,NA +GARD:0015117,UMLS,C1861194,NA +GARD:0015118,OMIM,188400,Exact +GARD:0015118,ICD-10-CM,D82.1,NA +GARD:0015118,SNOMED-CT,767263007,NA +GARD:0015118,UMLS,C1414025,NA +GARD:0015118,UMLS,C0012236,NA +GARD:0015118,DiseaseOntology,11198,NA +GARD:0015118,GeneticAlliance,20,NA +GARD:0015119,OMIM,188580,Exact +GARD:0015119,UMLS,C2749982,NA +GARD:0015119,GeneticAlliance,9407,NA +GARD:0015120,OMIM,188700,Exact +GARD:0015120,SNOMED-CT,880067009,NA +GARD:0015120,DiseaseOntology,14798,NA +GARD:0015120,UMLS,C0220757,NA +GARD:0015121,OMIM,191100,Exact +GARD:0015121,SNOMED-CT,7199000,NA +GARD:0015121,UMLS,C1854465,NA +GARD:0015121,DiseaseOntology,80324,NA +GARD:0015121,ICD-10-CM,Q85.1,NA +GARD:0015121,UMLS,C0041341,NA +GARD:0015122,OMIM,191480,Exact +GARD:0015122,UMLS,C4551573,NA +GARD:0015122,UMLS,C0432347,NA +GARD:0015122,SNOMED-CT,254230001,NA +GARD:0015122,GeneticAlliance,7294,NA +GARD:0015123,OMIM,192430,Exact +GARD:0015123,DiseaseOntology,12583,NA +GARD:0015123,ICD-10-CM,Q93.81,NA +GARD:0015123,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome,NA +GARD:0015123,UMLS,C0220704,NA +GARD:0015124,OMIM,194070,Exact +GARD:0015124,DiseaseOntology,2154,NA +GARD:0015124,SNOMED-CT,25081006,NA +GARD:0015124,SNOMED-CT,302849000,NA +GARD:0015124,GeneticAlliance,7505,NA +GARD:0015124,UMLS,C0027708,NA +GARD:0015125,OMIM,194090,Exact +GARD:0015125,UMLS,C1860265,NA +GARD:0015126,OMIM,194380,Exact +GARD:0015126,DiseaseOntology,111576,NA +GARD:0015126,SNOMED-CT,87994004,NA +GARD:0015126,UMLS,C0272051,NA +GARD:0015126,SNOMED-CT,715526002,NA +GARD:0015126,UMLS,C4551512,NA +GARD:0015127,OMIM,200100,Exact +GARD:0015127,ICD-10-CM,E78.6,NA +GARD:0015127,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/abetalipoproteinemia,NA +GARD:0015127,SNOMED-CT,190787008,NA +GARD:0015127,UMLS,C0000744,NA +GARD:0015127,DiseaseOntology,1386,NA +GARD:0015128,OMIM,201000,Exact +GARD:0015128,GeneticAlliance,1121,NA +GARD:0015128,DiseaseOntology,60234,NA +GARD:0015128,SNOMED-CT,403767009,NA +GARD:0015128,UMLS,C4551510,NA +GARD:0015128,UMLS,C1275078,NA +GARD:0015129,OMIM,201300,Exact +GARD:0015129,SNOMED-CT,763803004,NA +GARD:0015129,GeneticAlliance,8533,NA +GARD:0015129,ICD-10-CM,G60.8,NA +GARD:0015129,UMLS,C3854373,NA +GARD:0015129,DiseaseOntology,70155,NA +GARD:0015129,UMLS,C2752089,NA +GARD:0015129,SNOMED-CT,860809000,NA +GARD:0015130,OMIM,201310,Exact +GARD:0015130,DiseaseOntology,60347,NA +GARD:0015130,UMLS,C0796290,NA +GARD:0015131,OMIM,202155,Exact +GARD:0015131,UMLS,C1859977,NA +GARD:0015132,OMIM,202300,Exact +GARD:0015132,GeneticAlliance,7638,NA +GARD:0015132,DiseaseOntology,3948,NA +GARD:0015132,UMLS,C1859972,NA +GARD:0015133,OMIM,202355,Exact +GARD:0015133,UMLS,C1859971,NA +GARD:0015134,OMIM,202370,Exact +GARD:0015134,UMLS,C3550234,NA +GARD:0015134,DiseaseOntology,80622,NA +GARD:0015135,OMIM,203655,Exact +GARD:0015135,DiseaseOntology,50634,NA +GARD:0015135,UMLS,C1859877,NA +GARD:0015135,GeneticAlliance,7666,NA +GARD:0015136,OMIM,204650,Exact +GARD:0015136,DiseaseOntology,110056,NA +GARD:0015136,GeneticAlliance,7679,NA +GARD:0015136,UMLS,C2673923,NA +GARD:0015137,OMIM,205100,Exact +GARD:0015137,GeneticAlliance,404,NA +GARD:0015137,DiseaseOntology,60194,NA +GARD:0015137,UMLS,C1859807,NA +GARD:0015138,OMIM,205250,Exact +GARD:0015138,UMLS,C1859805,NA +GARD:0015139,OMIM,208085,Exact +GARD:0015139,GeneticAlliance,613,NA +GARD:0015139,UMLS,C1859722,NA +GARD:0015139,DiseaseOntology,111353,NA +GARD:0015139,UMLS,C4551984,NA +GARD:0015139,SNOMED-CT,720513002,NA +GARD:0015140,OMIM,208500,Exact +GARD:0015140,SNOMED-CT,75049004,NA +GARD:0015140,UMLS,C0265275,NA +GARD:0015140,UMLS,C4551856,NA +GARD:0015140,DiseaseOntology,110085,NA +GARD:0015141,OMIM,208910,Exact +GARD:0015141,UMLS,C1859615,NA +GARD:0015142,OMIM,210400,Exact +GARD:0015142,UMLS,C0221363,NA +GARD:0015142,UMLS,C3887497,NA +GARD:0015142,SNOMED-CT,787413007,NA +GARD:0015143,OMIM,210600,Exact +GARD:0015143,DiseaseOntology,70007,NA +GARD:0015143,UMLS,C4551474,NA +GARD:0015143,GeneticAlliance,6478,NA +GARD:0015144,OMIM,210710,Exact +GARD:0015144,SNOMED-CT,254102008,NA +GARD:0015144,GeneticAlliance,9054,NA +GARD:0015144,UMLS,C1859452,NA +GARD:0015144,DiseaseOntology,60608,NA +GARD:0015145,OMIM,210730,Exact +GARD:0015145,GeneticAlliance,4732,NA +GARD:0015145,UMLS,C1859439,NA +GARD:0015146,OMIM,211900,Exact +GARD:0015146,SNOMED-CT,860796007,NA +GARD:0015146,DiseaseOntology,111063,NA +GARD:0015146,UMLS,C1876187,NA +GARD:0015146,UMLS,C4692564,NA +GARD:0015148,OMIM,212080,Exact +GARD:0015148,UMLS,C1859332,NA +GARD:0015149,OMIM,214110,Exact +GARD:0015149,DiseaseOntology,80477,NA +GARD:0015149,UMLS,C3550274,NA +GARD:0015149,UMLS,C3550273,NA +GARD:0015150,OMIM,214150,Exact +GARD:0015150,UMLS,C0220722,NA +GARD:0015150,GeneticAlliance,1246,NA +GARD:0015150,DiseaseOntology,80911,NA +GARD:0015151,OMIM,214300,Exact +GARD:0015151,DiseaseOntology,80590,NA +GARD:0015151,UMLS,C1859209,NA +GARD:0015152,OMIM,215450,Exact +GARD:0015152,DiseaseOntology,12859,NA +GARD:0015152,UMLS,C1859098,NA +GARD:0015153,OMIM,216360,Exact +GARD:0015153,SNOMED-CT,721847002,NA +GARD:0015153,GeneticAlliance,1692,NA +GARD:0015153,UMLS,C1857662,NA +GARD:0015153,UMLS,C5435651,NA +GARD:0015153,DiseaseOntology,111589,NA +GARD:0015154,OMIM,216400,Exact +GARD:0015154,DiseaseOntology,80907,NA +GARD:0015154,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/cockayne-syndrome,NA +GARD:0015154,GeneticAlliance,1701,NA +GARD:0015154,UMLS,C0751039,NA +GARD:0015154,SNOMED-CT,890433006,NA +GARD:0015155,OMIM,216950,Exact +GARD:0015155,UMLS,C3150274,NA +GARD:0015155,GeneticAlliance,8031,NA +GARD:0015156,OMIM,218300,Exact +GARD:0015156,GeneticAlliance,1960,NA +GARD:0015156,UMLS,C0410539,NA +GARD:0015156,DiseaseOntology,80032,NA +GARD:0015156,SNOMED-CT,205506004,NA +GARD:0015157,OMIM,219100,Exact +GARD:0015157,UMLS,C3665335,NA +GARD:0015157,UMLS,C0268351,NA +GARD:0015157,DiseaseOntology,70135,NA +GARD:0015157,SNOMED-CT,59451000,NA +GARD:0015158,OMIM,220110,Exact +GARD:0015158,GeneticAlliance,4826,NA +GARD:0015158,UMLS,C0268237,NA +GARD:0015158,UMLS,C5435656,NA +GARD:0015158,SNOMED-CT,67434000,NA +GARD:0015158,DiseaseOntology,3762,NA +GARD:0015159,OMIM,220111,Exact +GARD:0015159,GeneticAlliance,4158,NA +GARD:0015159,UMLS,C1857355,NA +GARD:0015159,DiseaseOntology,111180,NA +GARD:0015159,SNOMED-CT,718219002,NA +GARD:0015160,OMIM,220210,Exact +GARD:0015160,UMLS,C4551776,NA +GARD:0015160,GeneticAlliance,2104,NA +GARD:0015160,UMLS,C0796137,NA +GARD:0015160,DiseaseOntology,60571,NA +GARD:0015160,SNOMED-CT,718556007,NA +GARD:0015161,OMIM,222400,Exact +GARD:0015161,DiseaseOntology,3827,NA +GARD:0015161,UMLS,C1857284,NA +GARD:0015162,OMIM,224690,Exact +GARD:0015162,GeneticAlliance,4571,NA +GARD:0015162,DiseaseOntology,80512,NA +GARD:0015162,SNOMED-CT,703508009,NA +GARD:0015162,UMLS,C4552001,NA +GARD:0015162,UMLS,C1868684,NA +GARD:0015163,OMIM,224900,Exact +GARD:0015163,UMLS,C3887494,NA +GARD:0015163,GeneticAlliance,7792,NA +GARD:0015163,DiseaseOntology,111665,NA +GARD:0015164,OMIM,225200,Exact +GARD:0015164,UMLS,C1644196,NA +GARD:0015164,DiseaseOntology,111648,NA +GARD:0015164,SNOMED-CT,419237004,NA +GARD:0015165,OMIM,225250,Exact +GARD:0015165,UMLS,C2673630,NA +GARD:0015165,DiseaseOntology,70125,NA +GARD:0015165,GeneticAlliance,8625,NA +GARD:0015166,OMIM,225300,Exact +GARD:0015166,UMLS,C2749665,NA +GARD:0015166,GeneticAlliance,9345,NA +GARD:0015166,DiseaseOntology,90026,NA +GARD:0015167,OMIM,225750,Exact +GARD:0015167,SNOMED-CT,230312006,NA +GARD:0015167,UMLS,C0393591,NA +GARD:0015167,UMLS,C0796126,NA +GARD:0015167,DiseaseOntology,50629,NA +GARD:0015168,OMIM,227645,Exact +GARD:0015168,UMLS,C3468041,NA +GARD:0015168,GeneticAlliance,2783,NA +GARD:0015168,DiseaseOntology,111087,NA +GARD:0015169,OMIM,227646,Exact +GARD:0015169,GeneticAlliance,8411,NA +GARD:0015169,UMLS,C3160738,NA +GARD:0015169,DiseaseOntology,111083,NA +GARD:0015170,OMIM,227650,Exact +GARD:0015170,DiseaseOntology,111095,NA +GARD:0015170,UMLS,C3469521,NA +GARD:0015170,GeneticAlliance,2780,NA +GARD:0015171,OMIM,228020,Exact +GARD:0015171,UMLS,C1302740,NA +GARD:0015172,OMIM,231050,Exact +GARD:0015172,DiseaseOntology,111725,NA +GARD:0015172,GeneticAlliance,3009,NA +GARD:0015172,UMLS,C3278147,NA +GARD:0015173,OMIM,232240,Exact +GARD:0015173,DiseaseOntology,2749,NA +GARD:0015173,UMLS,C0342750,NA +GARD:0015173,SNOMED-CT,237965005,NA +GARD:0015173,UMLS,C0342749,NA +GARD:0015173,SNOMED-CT,237966006,NA +GARD:0015173,GeneticAlliance,9102,NA +GARD:0015174,OMIM,233420,Exact +GARD:0015174,GeneticAlliance,7617,NA +GARD:0015174,DiseaseOntology,111774,NA +GARD:0015174,UMLS,C1856273,NA +GARD:0015175,OMIM,233690,Exact +GARD:0015175,DiseaseOntology,70193,NA +GARD:0015175,UMLS,C1856255,NA +GARD:0015175,GeneticAlliance,8493,NA +GARD:0015176,OMIM,233700,Exact +GARD:0015176,GeneticAlliance,7976,NA +GARD:0015176,UMLS,C1856251,NA +GARD:0015176,DiseaseOntology,70192,NA +GARD:0015177,OMIM,233710,Exact +GARD:0015177,DiseaseOntology,70191,NA +GARD:0015177,GeneticAlliance,7977,NA +GARD:0015177,UMLS,C1856245,NA +GARD:0015179,OMIM,235370,Exact +GARD:0015179,UMLS,C1856158,NA +GARD:0015180,OMIM,235500,Exact +GARD:0015180,SNOMED-CT,40527005,NA +GARD:0015180,DiseaseOntology,12118,NA +GARD:0015180,UMLS,C0020807,NA +GARD:0015180,ICD-10-CM,J84.03,NA +GARD:0015181,OMIM,235510,Exact +GARD:0015181,UMLS,C0340834,NA +GARD:0015181,GeneticAlliance,3321,NA +GARD:0015181,DiseaseOntology,60366,NA +GARD:0015181,SNOMED-CT,234146006,NA +GARD:0015181,UMLS,C4012050,NA +GARD:0015182,OMIM,236680,Exact +GARD:0015182,GeneticAlliance,8570,NA +GARD:0015182,UMLS,C1856016,NA +GARD:0015182,DiseaseOntology,111355,NA +GARD:0015183,OMIM,238710,Exact +GARD:0015183,DiseaseOntology,9274,NA +GARD:0015183,UMLS,C1855927,NA +GARD:0015184,OMIM,240500,Exact +GARD:0015184,DiseaseOntology,12177,NA +GARD:0015184,GeneticAlliance,8023,NA +GARD:0015184,UMLS,C3150354,NA +GARD:0015185,OMIM,241600,Exact +GARD:0015185,DiseaseOntology,111981,NA +GARD:0015185,GeneticAlliance,8624,NA +GARD:0015185,UMLS,C1855796,NA +GARD:0015186,OMIM,242050,Exact +GARD:0015186,UMLS,C1855793,NA +GARD:0015187,OMIM,242100,Exact +GARD:0015187,SNOMED-CT,718632004,NA +GARD:0015187,UMLS,C3888093,NA +GARD:0015187,GeneticAlliance,3710,NA +GARD:0015187,DiseaseOntology,60710,NA +GARD:0015187,UMLS,C1855789,NA +GARD:0015188,OMIM,242860,Exact +GARD:0015188,GeneticAlliance,3708,NA +GARD:0015188,UMLS,C0398788,NA +GARD:0015188,DiseaseOntology,90008,NA +GARD:0015188,UMLS,C4551557,NA +GARD:0015188,SNOMED-CT,234633000,NA +GARD:0015189,OMIM,243310,Exact +GARD:0015189,UMLS,C1853623,NA +GARD:0015189,SNOMED-CT,702410002,NA +GARD:0015189,DiseaseOntology,60229,NA +GARD:0015189,UMLS,C1855722,NA +GARD:0015190,OMIM,243320,Exact +GARD:0015190,UMLS,C1855721,NA +GARD:0015191,OMIM,245300,Exact +GARD:0015191,UMLS,C1855588,NA +GARD:0015191,GeneticAlliance,4052,NA +GARD:0015192,OMIM,246300,Exact +GARD:0015192,GeneticAlliance,8733,NA +GARD:0015192,UMLS,C1968668,NA +GARD:0015193,OMIM,246560,Exact +GARD:0015193,DiseaseOntology,90025,NA +GARD:0015193,GeneticAlliance,4224,NA +GARD:0015193,UMLS,C1838652,NA +GARD:0015194,OMIM,247650,Exact +GARD:0015194,UMLS,C1855471,NA +GARD:0015195,OMIM,249210,Exact +GARD:0015195,UMLS,C1608393,NA +GARD:0015195,UMLS,C5542316,NA +GARD:0015195,GeneticAlliance,4556,NA +GARD:0015195,SNOMED-CT,253781004,NA +GARD:0015196,OMIM,250790,Exact +GARD:0015196,UMLS,C4285231,NA +GARD:0015196,GeneticAlliance,8862,NA +GARD:0015196,DiseaseOntology,112316,NA +GARD:0015197,OMIM,250800,Exact +GARD:0015197,GeneticAlliance,"509,288,638,864",NA +GARD:0015197,SNOMED-CT,124184009,NA +GARD:0015197,ICD-10-CM,D74.0,NA +GARD:0015197,SNOMED-CT,29914000,NA +GARD:0015197,SNOMED-CT,767497003,NA +GARD:0015197,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-methemoglobinemia,NA +GARD:0015197,UMLS,C0268193,NA +GARD:0015198,OMIM,251200,Exact +GARD:0015198,DiseaseOntology,70285,NA +GARD:0015198,UMLS,C1855081,NA +GARD:0015198,GeneticAlliance,9155,NA +GARD:0015199,OMIM,251300,Exact +GARD:0015199,UMLS,C4551772,NA +GARD:0015199,GeneticAlliance,4763,NA +GARD:0015199,UMLS,C0795949,NA +GARD:0015199,SNOMED-CT,721297008,NA +GARD:0015199,DiseaseOntology,60364,NA +GARD:0015200,OMIM,251505,Exact +GARD:0015200,UMLS,C1855053,NA +GARD:0015201,OMIM,252010,Exact +GARD:0015201,SNOMED-CT,237988006,NA +GARD:0015201,DiseaseOntology,605,NA +GARD:0015201,DiseaseOntology,074,NA +GARD:0015201,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/mitochondrial-complex-i-deficiency,NA +GARD:0015201,DiseaseOntology,360,NA +GARD:0015201,UMLS,C1838979,NA +GARD:0015201,GeneticAlliance,4823,NA +GARD:0015201,DiseaseOntology,112,NA +GARD:0015202,OMIM,252011,Exact +GARD:0015202,UMLS,C1855008,NA +GARD:0015202,GeneticAlliance,4824,NA +GARD:0015202,DiseaseOntology,60537,NA +GARD:0015203,OMIM,252250,Exact +GARD:0015203,UMLS,C1854982,NA +GARD:0015204,OMIM,253280,Exact +GARD:0015204,GeneticAlliance,4981,NA +GARD:0015204,UMLS,C3151519,NA +GARD:0015204,DiseaseOntology,111236,NA +GARD:0015205,OMIM,253800,Exact +GARD:0015205,DiseaseOntology,50559,NA +GARD:0015205,UMLS,C0410174,NA +GARD:0015205,SNOMED-CT,111502003,NA +GARD:0015205,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/fukuyama-congenital-muscular-dystrophy,NA +GARD:0015205,GeneticAlliance,2962,NA +GARD:0015206,OMIM,254300,Exact +GARD:0015206,UMLS,C1850792,NA +GARD:0015206,DiseaseOntology,110668,NA +GARD:0015207,OMIM,255160,Exact +GARD:0015207,UMLS,C1850709,NA +GARD:0015207,DiseaseOntology,111268,NA +GARD:0015208,OMIM,255200,Exact +GARD:0015208,SNOMED-CT,240081004,NA +GARD:0015208,GeneticAlliance,7787,NA +GARD:0015208,UMLS,C0410204,NA +GARD:0015208,DiseaseOntology,111220,NA +GARD:0015209,OMIM,256030,Exact +GARD:0015209,GeneticAlliance,5124,NA +GARD:0015209,DiseaseOntology,110928,NA +GARD:0015209,UMLS,C1850569,NA +GARD:0015210,OMIM,256370,Exact +GARD:0015210,UMLS,C3151568,NA +GARD:0015210,DiseaseOntology,80383,NA +GARD:0015211,OMIM,256700,Exact +GARD:0015211,UMLS,C2749485,NA +GARD:0015211,GeneticAlliance,5160,NA +GARD:0015212,OMIM,257270,Exact +GARD:0015212,UMLS,C1850362,NA +GARD:0015212,DiseaseOntology,110865,NA +GARD:0015212,GeneticAlliance,9012,NA +GARD:0015213,OMIM,257850,Exact +GARD:0015213,UMLS,C2749477,NA +GARD:0015213,GeneticAlliance,9034,NA +GARD:0015213,DiseaseOntology,60291,NA +GARD:0015214,OMIM,258150,Exact +GARD:0015214,SNOMED-CT,236803007,NA +GARD:0015214,UMLS,C0403810,NA +GARD:0015214,DiseaseOntology,70188,NA +GARD:0015215,OMIM,258450,Exact +GARD:0015215,GeneticAlliance,1206,NA +GARD:0015215,UMLS,C4225153,NA +GARD:0015215,DiseaseOntology,111522,NA +GARD:0015216,OMIM,259100,Exact +GARD:0015216,DiseaseOntology,14283,NA +GARD:0015216,ICD-10-CM,M89.4,NA +GARD:0015216,SNOMED-CT,720753002,NA +GARD:0015216,SNOMED-CT,223726008,NA +GARD:0015216,UMLS,C0029411,NA +GARD:0015216,UMLS,C2678439,NA +GARD:0015216,GeneticAlliance,5521,NA +GARD:0015216,SNOMED-CT,88220006,NA +GARD:0015216,UMLS,C4551679,NA +GARD:0015217,OMIM,259200,Exact +GARD:0015217,DiseaseOntology,14798,NA +GARD:0015217,UMLS,C3151572,NA +GARD:0015218,OMIM,259750,Exact +GARD:0015218,UMLS,C0264080,NA +GARD:0015218,DiseaseOntology,12559,NA +GARD:0015219,OMIM,260130,Exact +GARD:0015219,UMLS,C1850103,NA +GARD:0015220,OMIM,260370,Exact +GARD:0015220,GeneticAlliance,9067,NA +GARD:0015220,DiseaseOntology,50877,NA +GARD:0015220,UMLS,C3891828,NA +GARD:0015221,OMIM,260400,Exact +GARD:0015221,DiseaseOntology,60479,NA +GARD:0015221,UMLS,C0272170,NA +GARD:0015221,SNOMED-CT,89454001,NA +GARD:0015221,GeneticAlliance,9297,NA +GARD:0015221,UMLS,C4692625,NA +GARD:0015221,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/shwachman-diamond-syndrome,NA +GARD:0015222,OMIM,262600,Exact +GARD:0015222,SNOMED-CT,32390006,NA +GARD:0015222,DiseaseOntology,9406,NA +GARD:0015222,UMLS,C0878683,NA +GARD:0015222,UMLS,C0242343,NA +GARD:0015222,GeneticAlliance,5780,NA +GARD:0015222,ICD-10-CM,E23.0,NA +GARD:0015223,OMIM,263210,Exact +GARD:0015223,UMLS,C1849762,NA +GARD:0015224,OMIM,263520,Exact +GARD:0015224,UMLS,C0024507,NA +GARD:0015224,SNOMED-CT,72922008,NA +GARD:0015224,GeneticAlliance,6553,NA +GARD:0015224,DiseaseOntology,110092,NA +GARD:0015225,OMIM,264050,Exact +GARD:0015225,UMLS,C1849701,NA +GARD:0015226,OMIM,266510,Exact +GARD:0015226,DiseaseOntology,410,NA +GARD:0015226,DiseaseOntology,044,NA +GARD:0015226,GeneticAlliance,6183,NA +GARD:0015226,DiseaseOntology,5,NA +GARD:0015226,UMLS,C3550693,NA +GARD:0015226,DiseaseOntology,582,NA +GARD:0015227,OMIM,266920,Exact +GARD:0015227,GeneticAlliance,6203,NA +GARD:0015227,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome,NA +GARD:0015227,UMLS,C1849437,NA +GARD:0015227,DiseaseOntology,110097,NA +GARD:0015227,SNOMED-CT,254092004,NA +GARD:0015228,OMIM,267200,Exact +GARD:0015228,GeneticAlliance,6216,NA +GARD:0015228,DiseaseOntology,14219,NA +GARD:0015228,UMLS,C1849435,NA +GARD:0015229,OMIM,267300,Exact +GARD:0015229,UMLS,C4016429,NA +GARD:0015229,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/renal-tubular-acidosis-with-deafness,NA +GARD:0015229,UMLS,C0403554,NA +GARD:0015229,SNOMED-CT,236532003,NA +GARD:0015230,OMIM,268025,Exact +GARD:0015230,UMLS,C1849400,NA +GARD:0015230,DiseaseOntology,110421,NA +GARD:0015231,OMIM,268060,Exact +GARD:0015231,UMLS,C1849398,NA +GARD:0015231,DiseaseOntology,110422,NA +GARD:0015232,OMIM,268240,Exact +GARD:0015232,UMLS,C1849383,NA +GARD:0015233,OMIM,269500,Exact +GARD:0015233,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/sost-related-sclerosing-bone-dysplasia,NA +GARD:0015233,GeneticAlliance,6463,NA +GARD:0015233,DiseaseOntology,60756,NA +GARD:0015233,UMLS,C4551483,NA +GARD:0015233,SNOMED-CT,17568006,NA +GARD:0015233,UMLS,C0265301,NA +GARD:0015234,OMIM,269720,Exact +GARD:0015234,DiseaseOntology,14264,NA +GARD:0015234,UMLS,C1849250,NA +GARD:0015235,OMIM,270960,Exact +GARD:0015235,SNOMED-CT,85716005,NA +GARD:0015235,UMLS,C0232981,NA +GARD:0015235,GeneticAlliance,6715,NA +GARD:0015235,UMLS,C3279437,NA +GARD:0015235,DiseaseOntology,70176,NA +GARD:0015236,OMIM,270970,Exact +GARD:0015236,DiseaseOntology,110918,NA +GARD:0015236,UMLS,C2678338,NA +GARD:0015236,GeneticAlliance,9332,NA +GARD:0015237,OMIM,271600,Exact +GARD:0015237,UMLS,C1849054,NA +GARD:0015237,DiseaseOntology,112293,NA +GARD:0015238,OMIM,273395,Exact +GARD:0015238,DiseaseOntology,112192,NA +GARD:0015238,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome,NA +GARD:0015238,UMLS,C4012268,NA +GARD:0015239,OMIM,273750,Exact +GARD:0015239,GeneticAlliance,7072,NA +GARD:0015239,UMLS,C1848862,NA +GARD:0015239,SNOMED-CT,702342007,NA +GARD:0015239,UMLS,C2678312,NA +GARD:0015239,DiseaseOntology,60241,NA +GARD:0015240,OMIM,273800,Exact +GARD:0015240,DiseaseOntology,2219,NA +GARD:0015240,SNOMED-CT,32942005,NA +GARD:0015240,GeneticAlliance,7074,NA +GARD:0015240,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/glanzmann-thrombasthenia,NA +GARD:0015240,ICD-10-CM,D69.1,NA +GARD:0015240,UMLS,C0040015,NA +GARD:0015241,OMIM,276901,Exact +GARD:0015241,GeneticAlliance,7323,NA +GARD:0015241,DiseaseOntology,110838,NA +GARD:0015241,UMLS,C1848634,NA +GARD:0015242,OMIM,276902,Exact +GARD:0015242,SNOMED-CT,1010610007,NA +GARD:0015242,DiseaseOntology,110841,NA +GARD:0015242,GeneticAlliance,7326,NA +GARD:0015242,UMLS,C1568248,NA +GARD:0015243,OMIM,277180,Exact +GARD:0015243,DiseaseOntology,111864,NA +GARD:0015243,GeneticAlliance,1790,NA +GARD:0015243,UMLS,C0403814,NA +GARD:0015243,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/congenital-bilateral-absence-of-the-vas-deferens,NA +GARD:0015243,UMLS,C5393224,NA +GARD:0015243,SNOMED-CT,275416002,NA +GARD:0015244,OMIM,277470,Exact +GARD:0015244,DiseaseOntology,60267,NA +GARD:0015244,GeneticAlliance,9133,NA +GARD:0015244,UMLS,C1848526,NA +GARD:0015245,OMIM,277580,Exact +GARD:0015245,UMLS,C1848519,NA +GARD:0015245,GeneticAlliance,9464,NA +GARD:0015245,SNOMED-CT,715952000,NA +GARD:0015245,DiseaseOntology,110953,NA +GARD:0015246,OMIM,277600,Exact +GARD:0015246,UMLS,C4552002,NA +GARD:0015246,GeneticAlliance,9472,NA +GARD:0015246,UMLS,C1869114,NA +GARD:0015246,DiseaseOntology,50475,NA +GARD:0015247,OMIM,278150,Exact +GARD:0015247,UMLS,C1848435,NA +GARD:0015247,DiseaseOntology,110705,NA +GARD:0015247,UMLS,C3279470,NA +GARD:0015247,GeneticAlliance,9482,NA +GARD:0015248,OMIM,615511,Exact +GARD:0015248,UMLS,C3714933,NA +GARD:0015248,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/adenosine-monophosphate-deaminase-deficiency,NA +GARD:0015249,OMIM,278850,Exact +GARD:0015249,UMLS,C2749215,NA +GARD:0015249,DiseaseOntology,111763,NA +GARD:0015250,OMIM,300001,Exact +GARD:0015250,UMLS,C1848387,NA +GARD:0015251,OMIM,300071,Exact +GARD:0015251,GeneticAlliance,8082,NA +GARD:0015251,UMLS,C1848172,NA +GARD:0015251,DiseaseOntology,110871,NA +GARD:0015253,OMIM,300147,Exact +GARD:0015253,DiseaseOntology,10283,NA +GARD:0015253,UMLS,C1846279,NA +GARD:0015254,OMIM,300260,Exact +GARD:0015254,DiseaseOntology,60799,NA +GARD:0015254,UMLS,C1846058,NA +GARD:0015254,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/mecp2-duplication-syndrome,NA +GARD:0015254,GeneticAlliance,4540,NA +GARD:0015254,SNOMED-CT,702816000,NA +GARD:0015255,Orphanet,172,Exact +GARD:0015255,ICD-11,5C58.03,Exact +GARD:0015255,OMIM,602347,BTNT +GARD:0015255,OMIM,601847,BTNT +GARD:0015255,UMLS,C0268312,Exact +GARD:0015255,ICD-10,K76.8,NTBT +GARD:0015255,OMIM,211600,BTNT +GARD:0015255,OMIM,615878,BTNT +GARD:0015255,SNOMED-CT,74162007,NA +GARD:0015256,OMIM,300388,Exact +GARD:0015256,SNOMED-CT,438583008,NA +GARD:0015256,UMLS,C1845668,NA +GARD:0015257,OMIM,300514,Exact +GARD:0015257,UMLS,C1845292,NA +GARD:0015257,DiseaseOntology,111098,NA +GARD:0015257,GeneticAlliance,2782,NA +GARD:0015258,OMIM,300580,Exact +GARD:0015258,DiseaseOntology,111226,NA +GARD:0015258,UMLS,C2749128,NA +GARD:0015259,OMIM,300590,Exact +GARD:0015259,SNOMED-CT,55016009,NA +GARD:0015259,UMLS,C1802395,NA +GARD:0015259,GeneticAlliance,8077,NA +GARD:0015259,DiseaseOntology,80506,NA +GARD:0015260,OMIM,300704,Exact +GARD:0015260,DiseaseOntology,10283,NA +GARD:0015260,UMLS,C2678047,NA +GARD:0015261,OMIM,300717,Exact +GARD:0015261,GeneticAlliance,8961,NA +GARD:0015261,DiseaseOntology,80090,NA +GARD:0015261,UMLS,C4225423,NA +GARD:0015262,OMIM,300718,Exact +GARD:0015262,DiseaseOntology,80687,NA +GARD:0015262,GeneticAlliance,8960,NA +GARD:0015262,UMLS,C4225159,NA +GARD:0015263,OMIM,300770,Exact +GARD:0015263,UMLS,C2677877,NA +GARD:0015263,DiseaseOntology,12120,NA +GARD:0015263,GeneticAlliance,9367,NA +GARD:0015264,OMIM,300799,Exact +GARD:0015264,GeneticAlliance,8856,NA +GARD:0015264,UMLS,C3275406,NA +GARD:0015264,DiseaseOntology,60824,NA +GARD:0015265,OMIM,300804,Exact +GARD:0015265,UMLS,C2749019,NA +GARD:0015265,GeneticAlliance,8687,NA +GARD:0015265,DiseaseOntology,110981,NA +GARD:0015266,OMIM,300815,Exact +GARD:0015266,UMLS,C2749007,NA +GARD:0015267,OMIM,300833,Exact +GARD:0015267,DiseaseOntology,111762,NA +GARD:0015267,UMLS,C3151782,NA +GARD:0015268,OMIM,300834,Exact +GARD:0015268,DiseaseOntology,112157,NA +GARD:0015268,GeneticAlliance,8777,NA +GARD:0015268,UMLS,C3151784,NA +GARD:0015269,OMIM,300857,Exact +GARD:0015269,GeneticAlliance,7686,NA +GARD:0015269,UMLS,C3275459,NA +GARD:0015269,DiseaseOntology,60206,NA +GARD:0015270,OMIM,300867,Exact +GARD:0015270,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/kabuki-syndrome,NA +GARD:0015270,DiseaseOntology,60473,NA +GARD:0015270,UMLS,C3275495,NA +GARD:0015270,GeneticAlliance,8701,NA +GARD:0015271,OMIM,300882,Exact +GARD:0015271,UMLS,C3550903,NA +GARD:0015271,DiseaseOntology,80509,NA +GARD:0015272,OMIM,300887,Exact +GARD:0015272,DiseaseOntology,111877,NA +GARD:0015272,UMLS,C3550921,NA +GARD:0015273,OMIM,300918,Exact +GARD:0015273,DiseaseOntology,112012,NA +GARD:0015273,UMLS,C3806745,NA +GARD:0015274,OMIM,300943,Exact +GARD:0015274,UMLS,C4012409,NA +GARD:0015274,DiseaseOntology,112007,NA +GARD:0015275,OMIM,300946,Exact +GARD:0015275,DiseaseOntology,111897,NA +GARD:0015275,UMLS,C4225422,NA +GARD:0015276,OMIM,300952,Exact +GARD:0015276,DiseaseOntology,111876,NA +GARD:0015276,UMLS,C4225421,NA +GARD:0015277,OMIM,300953,Exact +GARD:0015277,DiseaseOntology,111868,NA +GARD:0015277,UMLS,C4225420,NA +GARD:0015278,OMIM,300963,Exact +GARD:0015278,DiseaseOntology,60572,NA +GARD:0015278,UMLS,C4225419,NA +GARD:0015279,OMIM,300985,Exact +GARD:0015279,DiseaseOntology,111863,NA +GARD:0015279,UMLS,C4310815,NA +GARD:0015280,OMIM,300991,Exact +GARD:0015280,UMLS,C4478372,NA +GARD:0015280,DiseaseOntology,111850,NA +GARD:0015281,OMIM,301006,Exact +GARD:0015281,UMLS,C4538784,NA +GARD:0015281,DiseaseOntology,80244,NA +GARD:0015282,OMIM,301008,Exact +GARD:0015282,UMLS,C4538788,NA +GARD:0015282,DiseaseOntology,80242,NA +GARD:0015283,OMIM,301020,Exact +GARD:0015283,UMLS,C4746984,NA +GARD:0015283,DiseaseOntology,112099,NA +GARD:0015284,OMIM,301021,Exact +GARD:0015284,UMLS,C4746985,NA +GARD:0015284,DiseaseOntology,112098,NA +GARD:0015285,OMIM,301028,Exact +GARD:0015285,DiseaseOntology,70357,NA +GARD:0015285,UMLS,C5193011,NA +GARD:0015286,OMIM,301058,Exact +GARD:0015286,UMLS,C5542345,NA +GARD:0015287,OMIM,302045,Exact +GARD:0015287,SNOMED-CT,702424003,NA +GARD:0015287,UMLS,C3668940,NA +GARD:0015287,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/x-linked-dilated-cardiomyopathy,NA +GARD:0015287,GeneticAlliance,7898,NA +GARD:0015287,DiseaseOntology,110461,NA +GARD:0015289,OMIM,304800,Exact +GARD:0015289,DiseaseOntology,81060,NA +GARD:0015289,UMLS,C1563705,NA +GARD:0015289,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/nephrogenic-diabetes-insipidus,NA +GARD:0015289,GeneticAlliance,5139,NA +GARD:0015290,OMIM,304950,Exact +GARD:0015290,UMLS,C1844654,NA +GARD:0015291,OMIM,305350,Exact +GARD:0015291,UMLS,C1844589,NA +GARD:0015292,OMIM,305390,Exact +GARD:0015292,DiseaseOntology,111413,NA +GARD:0015292,GeneticAlliance,9487,NA +GARD:0015292,UMLS,C1844579,NA +GARD:0015293,OMIM,305620,Exact +GARD:0015293,GeneticAlliance,2937,NA +GARD:0015293,UMLS,C4281559,NA +GARD:0015293,DiseaseOntology,111786,NA +GARD:0015294,OMIM,306400,Exact +GARD:0015294,GeneticAlliance,7978,NA +GARD:0015294,UMLS,C1844376,NA +GARD:0015294,DiseaseOntology,70195,NA +GARD:0015295,OMIM,306950,Exact +GARD:0015295,UMLS,C1844025,NA +GARD:0015296,OMIM,307830,Exact +GARD:0015296,UMLS,C1843972,NA +GARD:0015297,OMIM,308205,Exact +GARD:0015297,UMLS,C5399971,NA +GARD:0015297,GeneticAlliance,8639,NA +GARD:0015297,DiseaseOntology,111821,NA +GARD:0015298,OMIM,308350,Exact +GARD:0015298,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/developmental-and-epileptic-encephalopathy-1,NA +GARD:0015298,UMLS,C3463992,NA +GARD:0015298,UMLS,C4552072,NA +GARD:0015298,SNOMED-CT,771223000,NA +GARD:0015298,GeneticAlliance,7475,NA +GARD:0015298,DiseaseOntology,80468,NA +GARD:0015299,OMIM,308800,Exact +GARD:0015299,UMLS,C3887525,NA +GARD:0015299,DiseaseOntology,80754,NA +GARD:0015299,GeneticAlliance,8709,NA +GARD:0015300,OMIM,308905,Exact +GARD:0015300,UMLS,C1839891,NA +GARD:0015301,OMIM,308990,Exact +GARD:0015301,DiseaseOntology,111815,NA +GARD:0015301,UMLS,C1839874,NA +GARD:0015301,GeneticAlliance,9182,NA +GARD:0015302,OMIM,309120,Exact +GARD:0015302,DiseaseOntology,70185,NA +GARD:0015302,UMLS,C1839841,NA +GARD:0015304,OMIM,309800,Exact +GARD:0015304,GeneticAlliance,4784,NA +GARD:0015304,SNOMED-CT,438504004,NA +GARD:0015304,UMLS,C0796016,NA +GARD:0015304,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/lenz-microphthalmia-syndrome,NA +GARD:0015304,DiseaseOntology,111799,NA +GARD:0015305,OMIM,310468,Exact +GARD:0015305,DiseaseOntology,111798,NA +GARD:0015305,GeneticAlliance,9518,NA +GARD:0015305,SNOMED-CT,236713006,NA +GARD:0015305,UMLS,C0403720,NA +GARD:0015306,OMIM,310500,Exact +GARD:0015306,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/x-linked-congenital-stationary-night-blindness,NA +GARD:0015306,GeneticAlliance,8081,NA +GARD:0015306,DiseaseOntology,110870,NA +GARD:0015306,UMLS,C3495587,NA +GARD:0015308,OMIM,313350,Exact +GARD:0015308,DiseaseOntology,90027,NA +GARD:0015308,UMLS,C1839258,NA +GARD:0015308,GeneticAlliance,6796,NA +GARD:0015309,OMIM,314390,Exact +GARD:0015309,DiseaseOntology,111766,NA +GARD:0015309,UMLS,C2931228,NA +GARD:0015309,GeneticAlliance,7332,NA +GARD:0015310,OMIM,400004,Exact +GARD:0015310,UMLS,C1839079,NA +GARD:0015310,DiseaseOntology,110418,NA +GARD:0015311,OMIM,500001,Exact +GARD:0015311,GeneticAlliance,4143,NA +GARD:0015311,DiseaseOntology,111755,NA +GARD:0015311,UMLS,C1839040,NA +GARD:0015312,OMIM,500011,Exact +GARD:0015312,UMLS,C4225415,NA +GARD:0015312,DiseaseOntology,111184,NA +GARD:0015313,OMIM,598500,Exact +GARD:0015313,UMLS,C1838782,NA +GARD:0015313,DiseaseOntology,80583,NA +GARD:0015314,OMIM,600110,Exact +GARD:0015314,UMLS,C1838644,NA +GARD:0015314,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/stargardt-macular-degeneration,NA +GARD:0015314,GeneticAlliance,9355,NA +GARD:0015314,DiseaseOntology,50817,NA +GARD:0015315,OMIM,600155,Exact +GARD:0015315,UMLS,C1838564,NA +GARD:0015316,OMIM,600156,Exact +GARD:0015316,UMLS,C1970723,NA +GARD:0015316,DiseaseOntology,10487,NA +GARD:0015317,OMIM,600416,Exact +GARD:0015317,SNOMED-CT,240074006,NA +GARD:0015317,ICD-10-CM,G71.02,NA +GARD:0015317,UMLS,C0410192,NA +GARD:0015317,DiseaseOntology,9884,NA +GARD:0015319,OMIM,600513,Exact +GARD:0015319,GeneticAlliance,8331,NA +GARD:0015319,UMLS,C1838049,NA +GARD:0015319,DiseaseOntology,60682,NA +GARD:0015320,OMIM,600630,Exact +GARD:0015320,GeneticAlliance,9441,NA +GARD:0015320,DiseaseOntology,60240,NA +GARD:0015320,UMLS,C3551173,NA +GARD:0015321,OMIM,600638,Exact +GARD:0015321,GeneticAlliance,8432,NA +GARD:0015321,UMLS,C2748801,NA +GARD:0015321,DiseaseOntology,81017,NA +GARD:0015322,OMIM,600795,Exact +GARD:0015322,UMLS,C1833296,NA +GARD:0015322,DiseaseOntology,111227,NA +GARD:0015322,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia,NA +GARD:0015322,SNOMED-CT,702393003,NA +GARD:0015323,OMIM,600884,Exact +GARD:0015323,SNOMED-CT,52029003,NA +GARD:0015323,UMLS,C0340427,NA +GARD:0015323,DiseaseOntology,110443,NA +GARD:0015324,OMIM,600901,Exact +GARD:0015324,DiseaseOntology,111084,NA +GARD:0015324,UMLS,C3160739,NA +GARD:0015324,GeneticAlliance,8412,NA +GARD:0015325,OMIM,600903,Exact +GARD:0015325,UMLS,C5542398,NA +GARD:0015326,OMIM,600995,Exact +GARD:0015326,DiseaseOntology,80379,NA +GARD:0015326,GeneticAlliance,5149,NA +GARD:0015326,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/congenital-nephrotic-syndrome,NA +GARD:0015326,UMLS,C1868672,NA +GARD:0015326,UMLS,C3496337,NA +GARD:0015327,OMIM,601202,Exact +GARD:0015327,GeneticAlliance,512,NA +GARD:0015327,UMLS,C1832609,NA +GARD:0015327,DiseaseOntology,110257,NA +GARD:0015328,OMIM,601363,Exact +GARD:0015328,UMLS,C1832426,NA +GARD:0015329,OMIM,601399,Exact +GARD:0015329,SNOMED-CT,725034002,NA +GARD:0015329,UMLS,C1832388,NA +GARD:0015329,GeneticAlliance,2765,NA +GARD:0015330,OMIM,601462,Exact +GARD:0015330,UMLS,C4084823,NA +GARD:0015330,DiseaseOntology,110663,NA +GARD:0015331,OMIM,601493,Exact +GARD:0015331,UMLS,C4225414,NA +GARD:0015331,UMLS,C3152137,NA +GARD:0015331,DiseaseOntology,110423,NA +GARD:0015331,GeneticAlliance,8243,NA +GARD:0015331,UMLS,C1832244,NA +GARD:0015332,OMIM,601494,Exact +GARD:0015332,DiseaseOntology,110426,NA +GARD:0015332,UMLS,C1832243,NA +GARD:0015334,OMIM,601518,Exact +GARD:0015334,UMLS,C4722327,NA +GARD:0015334,DiseaseOntology,10283,NA +GARD:0015334,GeneticAlliance,9176,NA +GARD:0015335,OMIM,601547,Exact +GARD:0015335,DiseaseOntology,110269,NA +GARD:0015335,UMLS,C1832175,NA +GARD:0015335,GeneticAlliance,7916,NA +GARD:0015336,OMIM,601583,Exact +GARD:0015336,UMLS,C1832099,NA +GARD:0015336,GeneticAlliance,7504,NA +GARD:0015337,OMIM,601813,Exact +GARD:0015337,GeneticAlliance,8364,NA +GARD:0015337,DiseaseOntology,111411,NA +GARD:0015337,UMLS,C1866176,NA +GARD:0015340,OMIM,601992,Exact +GARD:0015340,DiseaseOntology,111219,NA +GARD:0015340,UMLS,C1865981,NA +GARD:0015341,OMIM,602078,Exact +GARD:0015341,DiseaseOntology,81016,NA +GARD:0015341,GeneticAlliance,8431,NA +GARD:0015341,UMLS,C1865915,NA +GARD:0015342,OMIM,602093,Exact +GARD:0015342,DiseaseOntology,80314,NA +GARD:0015342,UMLS,C1865869,NA +GARD:0015342,GeneticAlliance,8035,NA +GARD:0015343,OMIM,602099,Exact +GARD:0015343,GeneticAlliance,407,NA +GARD:0015343,UMLS,C1865864,NA +GARD:0015343,DiseaseOntology,60197,NA +GARD:0015344,OMIM,602114,Exact +GARD:0015344,UMLS,C1865831,NA +GARD:0015346,OMIM,602483,Exact +GARD:0015346,UMLS,C4551996,NA +GARD:0015346,UMLS,C1865295,NA +GARD:0015346,SNOMED-CT,702443003,NA +GARD:0015347,OMIM,602497,Exact +GARD:0015347,DiseaseOntology,60293,NA +GARD:0015347,UMLS,C1844853,NA +GARD:0015347,SNOMED-CT,778067002,NA +GARD:0015348,OMIM,602522,Exact +GARD:0015348,SNOMED-CT,717791000,NA +GARD:0015348,UMLS,C1865270,NA +GARD:0015348,GeneticAlliance,749,NA +GARD:0015348,DiseaseOntology,110145,NA +GARD:0015349,OMIM,602540,Exact +GARD:0015349,UMLS,C1865234,NA +GARD:0015349,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hystrix-like-ichthyosis-with-deafness,NA +GARD:0015349,GeneticAlliance,8633,NA +GARD:0015350,OMIM,602722,Exact +GARD:0015350,UMLS,C5399980,NA +GARD:0015350,DiseaseOntology,14219,NA +GARD:0015350,GeneticAlliance,6215,NA +GARD:0015351,OMIM,602759,Exact +GARD:0015351,DiseaseOntology,10283,NA +GARD:0015351,UMLS,C1864472,NA +GARD:0015352,OMIM,603204,Exact +GARD:0015352,UMLS,C1864125,NA +GARD:0015352,DiseaseOntology,60683,NA +GARD:0015353,OMIM,603278,Exact +GARD:0015353,GeneticAlliance,2890,NA +GARD:0015353,DiseaseOntology,111128,NA +GARD:0015353,UMLS,C4551527,NA +GARD:0015354,OMIM,603386,Exact +GARD:0015354,UMLS,C1863925,NA +GARD:0015354,GeneticAlliance,5255,NA +GARD:0015355,OMIM,603467,Exact +GARD:0015355,UMLS,C3469526,NA +GARD:0015355,DiseaseOntology,111088,NA +GARD:0015355,GeneticAlliance,8413,NA +GARD:0015356,OMIM,603649,Exact +GARD:0015356,GeneticAlliance,8044,NA +GARD:0015356,DiseaseOntology,111012,NA +GARD:0015356,UMLS,C1863634,NA +GARD:0015357,OMIM,603688,Exact +GARD:0015357,GeneticAlliance,9179,NA +GARD:0015357,UMLS,C1863600,NA +GARD:0015358,OMIM,603744,Exact +GARD:0015358,UMLS,C1709457,NA +GARD:0015359,OMIM,603786,Exact +GARD:0015359,GeneticAlliance,9356,NA +GARD:0015359,DiseaseOntology,50817,NA +GARD:0015359,UMLS,C1863534,NA +GARD:0015360,OMIM,603802,Exact +GARD:0015360,SNOMED-CT,1003373003,NA +GARD:0015360,UMLS,C1863516,NA +GARD:0015361,OMIM,603909,Exact +GARD:0015361,DiseaseOntology,110115,NA +GARD:0015361,UMLS,C1858968,NA +GARD:0015361,GeneticAlliance,7778,NA +GARD:0015362,OMIM,603965,Exact +GARD:0015362,UMLS,C1858915,NA +GARD:0015362,GeneticAlliance,8436,NA +GARD:0015362,DiseaseOntology,111129,NA +GARD:0015363,OMIM,604145,Exact +GARD:0015363,GeneticAlliance,8251,NA +GARD:0015363,DiseaseOntology,110430,NA +GARD:0015363,UMLS,C1858763,NA +GARD:0015364,OMIM,604219,Exact +GARD:0015364,DiseaseOntology,110266,NA +GARD:0015364,GeneticAlliance,7910,NA +GARD:0015364,UMLS,C1858679,NA +GARD:0015364,UMLS,C3888098,NA +GARD:0015365,OMIM,604288,Exact +GARD:0015365,DiseaseOntology,110429,NA +GARD:0015365,UMLS,C1858591,NA +GARD:0015366,OMIM,604317,Exact +GARD:0015366,UMLS,C1858535,NA +GARD:0015366,GeneticAlliance,9156,NA +GARD:0015366,DiseaseOntology,70293,NA +GARD:0015367,OMIM,604321,Exact +GARD:0015367,GeneticAlliance,9158,NA +GARD:0015367,DiseaseOntology,70291,NA +GARD:0015367,UMLS,C1858516,NA +GARD:0015368,OMIM,604348,Exact +GARD:0015368,GeneticAlliance,253,NA +GARD:0015368,UMLS,C3807327,NA +GARD:0015368,DiseaseOntology,110011,NA +GARD:0015370,OMIM,604547,Exact +GARD:0015370,UMLS,C1858298,NA +GARD:0015372,OMIM,604765,Exact +GARD:0015372,DiseaseOntology,110431,NA +GARD:0015372,UMLS,C1858154,NA +GARD:0015372,GeneticAlliance,8252,NA +GARD:0015373,OMIM,604804,Exact +GARD:0015373,UMLS,C1858108,NA +GARD:0015373,DiseaseOntology,70286,NA +GARD:0015373,GeneticAlliance,9157,NA +GARD:0015374,OMIM,604928,Exact +GARD:0015374,GeneticAlliance,9479,NA +GARD:0015374,UMLS,C1858028,NA +GARD:0015374,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/wolfram-syndrome,NA +GARD:0015374,DiseaseOntology,110630,NA +GARD:0015375,OMIM,604931,Exact +GARD:0015375,UMLS,C3551716,NA +GARD:0015375,GeneticAlliance,8197,NA +GARD:0015375,DiseaseOntology,90141,NA +GARD:0015376,OMIM,605019,Exact +GARD:0015376,UMLS,C1857970,NA +GARD:0015376,DiseaseOntology,111061,NA +GARD:0015376,GeneticAlliance,8610,NA +GARD:0015377,OMIM,605244,Exact +GARD:0015377,UMLS,C1854540,NA +GARD:0015377,DiseaseOntology,50471,NA +GARD:0015378,OMIM,605289,Exact +GARD:0015378,UMLS,C1854442,NA +GARD:0015378,DiseaseOntology,90023,NA +GARD:0015378,GeneticAlliance,9344,NA +GARD:0015379,OMIM,605293,Exact +GARD:0015379,DiseaseOntology,111440,NA +GARD:0015379,UMLS,C1854430,NA +GARD:0015380,OMIM,605375,Exact +GARD:0015380,DiseaseOntology,60684,NA +GARD:0015380,UMLS,C1854335,NA +GARD:0015380,GeneticAlliance,8332,NA +GARD:0015381,OMIM,605549,Exact +GARD:0015381,DiseaseOntology,111014,NA +GARD:0015381,UMLS,C1854180,NA +GARD:0015382,OMIM,605582,Exact +GARD:0015382,UMLS,C1854159,NA +GARD:0015382,DiseaseOntology,110437,NA +GARD:0015383,OMIM,605594,Exact +GARD:0015383,UMLS,C1854146,NA +GARD:0015383,GeneticAlliance,8143,NA +GARD:0015384,OMIM,605672,Exact +GARD:0015384,UMLS,C1854064,NA +GARD:0015385,OMIM,605738,Exact +GARD:0015385,UMLS,C1854018,NA +GARD:0015386,OMIM,605750,Exact +GARD:0015386,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-exudative-vitreoretinopathy,NA +GARD:0015386,DiseaseOntology,111409,NA +GARD:0015386,UMLS,C1854002,NA +GARD:0015387,OMIM,605809,Exact +GARD:0015387,DiseaseOntology,110678,NA +GARD:0015387,UMLS,C4225413,NA +GARD:0015388,OMIM,605841,Exact +GARD:0015388,UMLS,C1853901,NA +GARD:0015388,DiseaseOntology,8986,NA +GARD:0015389,OMIM,606002,Exact +GARD:0015389,GeneticAlliance,6771,NA +GARD:0015389,SNOMED-CT,725408001,NA +GARD:0015389,DiseaseOntology,50755,NA +GARD:0015389,UMLS,C1853761,NA +GARD:0015390,OMIM,606164,Exact +GARD:0015390,DiseaseOntology,111894,NA +GARD:0015390,UMLS,C4225411,NA +GARD:0015391,OMIM,606240,Exact +GARD:0015391,UMLS,C4225410,NA +GARD:0015392,OMIM,606391,Exact +GARD:0015392,DiseaseOntology,50524,NA +GARD:0015392,SNOMED-CT,609561005,NA +GARD:0015392,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/maturity-onset-diabetes-of-the-young,NA +GARD:0015392,UMLS,C0342276,NA +GARD:0015393,OMIM,606545,Exact +GARD:0015393,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/lamellar-ichthyosis,NA +GARD:0015393,UMLS,C3539888,NA +GARD:0015393,DiseaseOntology,60711,NA +GARD:0015394,OMIM,606660,Exact +GARD:0015394,DiseaseOntology,6039,NA +GARD:0015394,UMLS,C1847724,NA +GARD:0015395,OMIM,606661,Exact +GARD:0015395,DiseaseOntology,6039,NA +GARD:0015395,UMLS,C1847723,NA +GARD:0015396,OMIM,606662,Exact +GARD:0015396,UMLS,C1847722,NA +GARD:0015396,DiseaseOntology,110951,NA +GARD:0015397,OMIM,606685,Exact +GARD:0015397,DiseaseOntology,110436,NA +GARD:0015397,GeneticAlliance,8254,NA +GARD:0015397,UMLS,C1847667,NA +GARD:0015398,OMIM,606708,Exact +GARD:0015398,DiseaseOntology,90022,NA +GARD:0015398,UMLS,C1847622,NA +GARD:0015399,OMIM,606744,Exact +GARD:0015399,UMLS,C1847572,NA +GARD:0015399,GeneticAlliance,9276,NA +GARD:0015399,DiseaseOntology,70013,NA +GARD:0015400,OMIM,606763,Exact +GARD:0015400,DiseaseOntology,110626,NA +GARD:0015400,UMLS,C1847554,NA +GARD:0015400,GeneticAlliance,7987,NA +GARD:0015401,OMIM,606856,Exact +GARD:0015401,GeneticAlliance,9068,NA +GARD:0015401,UMLS,C1847351,NA +GARD:0015402,OMIM,606874,Exact +GARD:0015402,DiseaseOntology,10487,NA +GARD:0015402,UMLS,C1969837,NA +GARD:0015403,OMIM,606875,Exact +GARD:0015403,UMLS,C1969836,NA +GARD:0015403,DiseaseOntology,10487,NA +GARD:0015404,OMIM,606943,Exact +GARD:0015404,DiseaseOntology,110834,NA +GARD:0015404,UMLS,C1847089,NA +GARD:0015405,OMIM,606995,Exact +GARD:0015405,UMLS,C1846980,NA +GARD:0015405,DiseaseOntology,50576,NA +GARD:0015406,OMIM,606996,Exact +GARD:0015406,DiseaseOntology,50576,NA +GARD:0015406,GeneticAlliance,9280,NA +GARD:0015406,UMLS,C1846979,NA +GARD:0015407,OMIM,607004,Exact +GARD:0015407,UMLS,C1846949,NA +GARD:0015407,DiseaseOntology,110974,NA +GARD:0015408,OMIM,607086,Exact +GARD:0015408,SNOMED-CT,45894003,NA +GARD:0015408,UMLS,C0162872,NA +GARD:0015408,DiseaseOntology,14004,NA +GARD:0015408,UMLS,C0345050,NA +GARD:0015408,SNOMED-CT,433068007,NA +GARD:0015408,SNOMED-CT,253646008,NA +GARD:0015409,OMIM,607087,Exact +GARD:0015409,DiseaseOntology,14004,NA +GARD:0015409,UMLS,C1846837,NA +GARD:0015410,OMIM,607151,Exact +GARD:0015410,UMLS,C1846689,NA +GARD:0015410,DiseaseOntology,13099,NA +GARD:0015410,GeneticAlliance,4897,NA +GARD:0015411,OMIM,607326,Exact +GARD:0015411,GeneticAlliance,6647,NA +GARD:0015411,UMLS,C3888088,NA +GARD:0015411,DiseaseOntology,60247,NA +GARD:0015412,OMIM,607398,Exact +GARD:0015412,UMLS,C4049714,NA +GARD:0015412,GeneticAlliance,8474,NA +GARD:0015413,OMIM,607482,Exact +GARD:0015413,GeneticAlliance,8255,NA +GARD:0015413,UMLS,C1843808,NA +GARD:0015413,DiseaseOntology,110449,NA +GARD:0015414,OMIM,607554,Exact +GARD:0015414,UMLS,C1837014,NA +GARD:0015414,DiseaseOntology,50650,NA +GARD:0015414,GeneticAlliance,7734,NA +GARD:0015415,OMIM,607572,Exact +GARD:0015415,GeneticAlliance,8732,NA +GARD:0015415,DiseaseOntology,1024,NA +GARD:0015415,UMLS,C1843632,NA +GARD:0015416,OMIM,607596,Exact +GARD:0015416,DiseaseOntology,60265,NA +GARD:0015416,GeneticAlliance,5863,NA +GARD:0015416,UMLS,C1843504,NA +GARD:0015417,OMIM,607602,Exact +GARD:0015417,SNOMED-CT,718631006,NA +GARD:0015417,GeneticAlliance,8632,NA +GARD:0015417,UMLS,C1843463,NA +GARD:0015418,OMIM,607644,Exact +GARD:0015418,UMLS,C1843306,NA +GARD:0015418,DiseaseOntology,2058,NA +GARD:0015420,OMIM,607823,Exact +GARD:0015420,UMLS,C1843004,NA +GARD:0015420,GeneticAlliance,8631,NA +GARD:0015420,DiseaseOntology,111361,NA +GARD:0015421,OMIM,607829,Exact +GARD:0015421,DiseaseOntology,988,NA +GARD:0015421,UMLS,C1843003,NA +GARD:0015422,OMIM,607832,Exact +GARD:0015422,GeneticAlliance,8437,NA +GARD:0015422,DiseaseOntology,112245,NA +GARD:0015422,UMLS,C1842982,NA +GARD:0015423,OMIM,607903,Exact +GARD:0015423,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/autosomal-recessive-hypotrichosis,NA +GARD:0015423,GeneticAlliance,8629,NA +GARD:0015423,DiseaseOntology,110703,NA +GARD:0015423,UMLS,C1842839,NA +GARD:0015424,OMIM,608097,Exact +GARD:0015424,DiseaseOntology,50454,NA +GARD:0015424,GeneticAlliance,8548,NA +GARD:0015424,UMLS,C1842563,NA +GARD:0015425,OMIM,608098,Exact +GARD:0015425,DiseaseOntology,50454,NA +GARD:0015425,UMLS,C1842562,NA +GARD:0015426,OMIM,608194,Exact +GARD:0015426,DiseaseOntology,111016,NA +GARD:0015426,GeneticAlliance,8041,NA +GARD:0015426,UMLS,C2750720,NA +GARD:0015427,OMIM,608217,Exact +GARD:0015427,UMLS,C1842382,NA +GARD:0015428,OMIM,608328,Exact +GARD:0015428,DiseaseOntology,50475,NA +GARD:0015428,UMLS,C1869115,NA +GARD:0015428,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/weill-marchesani-syndrome,NA +GARD:0015428,GeneticAlliance,9473,NA +GARD:0015429,OMIM,608358,Exact +GARD:0015429,SNOMED-CT,699267007,NA +GARD:0015429,UMLS,C1842160,NA +GARD:0015429,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/myosin-storage-myopathy,NA +GARD:0015429,GeneticAlliance,8959,NA +GARD:0015429,DiseaseOntology,111269,NA +GARD:0015430,OMIM,608389,Exact +GARD:0015430,DiseaseOntology,60232,NA +GARD:0015430,GeneticAlliance,7864,NA +GARD:0015430,UMLS,C1842124,NA +GARD:0015431,OMIM,608393,Exact +GARD:0015431,GeneticAlliance,9160,NA +GARD:0015431,DiseaseOntology,70290,NA +GARD:0015431,UMLS,C1842109,NA +GARD:0015432,OMIM,608462,Exact +GARD:0015432,DiseaseOntology,10487,NA +GARD:0015432,UMLS,C1969482,NA +GARD:0015434,OMIM,608569,Exact +GARD:0015434,UMLS,C1837839,NA +GARD:0015434,DiseaseOntology,110451,NA +GARD:0015434,GeneticAlliance,8257,NA +GARD:0015435,OMIM,608629,Exact +GARD:0015435,GeneticAlliance,3920,NA +GARD:0015435,UMLS,C1837713,NA +GARD:0015435,DiseaseOntology,110998,NA +GARD:0015436,OMIM,608644,Exact +GARD:0015436,DiseaseOntology,110599,NA +GARD:0015436,GeneticAlliance,7988,NA +GARD:0015436,UMLS,C1837618,NA +GARD:0015437,OMIM,608646,Exact +GARD:0015437,UMLS,C1837616,NA +GARD:0015437,DiseaseOntology,110614,NA +GARD:0015438,OMIM,608647,Exact +GARD:0015438,UMLS,C1837615,NA +GARD:0015438,DiseaseOntology,110617,NA +GARD:0015439,OMIM,608656,Exact +GARD:0015439,UMLS,C1837595,NA +GARD:0015439,DiseaseOntology,10283,NA +GARD:0015440,OMIM,608658,Exact +GARD:0015440,DiseaseOntology,10283,NA +GARD:0015440,UMLS,C1837593,NA +GARD:0015441,OMIM,608716,Exact +GARD:0015441,DiseaseOntology,70280,NA +GARD:0015441,UMLS,C1837501,NA +GARD:0015441,GeneticAlliance,9159,NA +GARD:0015442,OMIM,608796,Exact +GARD:0015442,DiseaseOntology,13099,NA +GARD:0015442,GeneticAlliance,4898,NA +GARD:0015442,UMLS,C1837418,NA +GARD:0015443,OMIM,608816,Exact +GARD:0015443,UMLS,C1837308,NA +GARD:0015443,DiseaseOntology,111326,NA +GARD:0015444,OMIM,608890,Exact +GARD:0015444,GeneticAlliance,9462,NA +GARD:0015444,DiseaseOntology,110952,NA +GARD:0015444,UMLS,C1837203,NA +GARD:0015445,OMIM,608930,Exact +GARD:0015445,UMLS,C4225405,NA +GARD:0015445,DiseaseOntology,110662,NA +GARD:0015445,GeneticAlliance,8933,NA +GARD:0015446,OMIM,608988,Exact +GARD:0015446,DiseaseOntology,50650,NA +GARD:0015446,UMLS,C1837812,NA +GARD:0015447,OMIM,609039,Exact +GARD:0015447,DiseaseOntology,8986,NA +GARD:0015447,UMLS,C1836907,NA +GARD:0015448,OMIM,609053,Exact +GARD:0015448,UMLS,C1836861,NA +GARD:0015448,GeneticAlliance,8415,NA +GARD:0015448,DiseaseOntology,111091,NA +GARD:0015449,OMIM,609054,Exact +GARD:0015449,GeneticAlliance,8416,NA +GARD:0015449,DiseaseOntology,111097,NA +GARD:0015449,UMLS,C1836860,NA +GARD:0015450,OMIM,609197,Exact +GARD:0015450,UMLS,C1836621,NA +GARD:0015451,OMIM,609254,Exact +GARD:0015451,DiseaseOntology,50576,NA +GARD:0015451,UMLS,C1836517,NA +GARD:0015451,GeneticAlliance,9281,NA +GARD:0015452,OMIM,609273,Exact +GARD:0015452,DiseaseOntology,110935,NA +GARD:0015452,UMLS,C1836472,NA +GARD:0015452,GeneticAlliance,5128,NA +GARD:0015453,OMIM,609284,Exact +GARD:0015453,GeneticAlliance,5123,NA +GARD:0015453,UMLS,C1836448,NA +GARD:0015453,DiseaseOntology,110926,NA +GARD:0015453,UMLS,C3714994,NA +GARD:0015454,OMIM,609285,Exact +GARD:0015454,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/cap-myopathy,NA +GARD:0015454,DiseaseOntology,110932,NA +GARD:0015454,UMLS,C1836447,NA +GARD:0015454,GeneticAlliance,5126,NA +GARD:0015454,UMLS,C3807907,NA +GARD:0015455,OMIM,609299,Exact +GARD:0015455,UMLS,C1836436,NA +GARD:0015455,DiseaseOntology,10283,NA +GARD:0015456,OMIM,609304,Exact +GARD:0015456,DiseaseOntology,80440,NA +GARD:0015456,UMLS,C0270855,NA +GARD:0015456,ICD-10-CM,G40.4,NA +GARD:0015456,GeneticAlliance,8288,NA +GARD:0015456,SNOMED-CT,44423001,NA +GARD:0015457,OMIM,609310,Exact +GARD:0015457,GeneticAlliance,1749,NA +GARD:0015457,DiseaseOntology,70274,NA +GARD:0015457,UMLS,C1333991,NA +GARD:0015458,OMIM,609345,Exact +GARD:0015458,UMLS,C1836287,NA +GARD:0015459,OMIM,609384,Exact +GARD:0015459,DiseaseOntology,81019,NA +GARD:0015459,UMLS,C2750404,NA +GARD:0015460,OMIM,609470,Exact +GARD:0015460,UMLS,C1836118,NA +GARD:0015461,OMIM,609508,Exact +GARD:0015461,UMLS,C1836080,NA +GARD:0015461,GeneticAlliance,9359,NA +GARD:0015461,SNOMED-CT,773727009,NA +GARD:0015461,UMLS,C1836081,NA +GARD:0015462,OMIM,609558,Exact +GARD:0015462,UMLS,C1836005,NA +GARD:0015462,DiseaseOntology,10283,NA +GARD:0015463,OMIM,609572,Exact +GARD:0015463,UMLS,C1835967,NA +GARD:0015463,DiseaseOntology,60281,NA +GARD:0015464,OMIM,609573,Exact +GARD:0015464,DiseaseOntology,60281,NA +GARD:0015464,UMLS,C1835966,NA +GARD:0015465,OMIM,609583,Exact +GARD:0015465,GeneticAlliance,3921,NA +GARD:0015465,DiseaseOntology,110999,NA +GARD:0015465,UMLS,C1846790,NA +GARD:0015466,OMIM,609612,Exact +GARD:0015466,UMLS,C1865040,NA +GARD:0015467,OMIM,609630,Exact +GARD:0015467,DiseaseOntology,1040,NA +GARD:0015467,UMLS,C1864995,NA +GARD:0015469,OMIM,609909,Exact +GARD:0015469,DiseaseOntology,110439,NA +GARD:0015469,UMLS,C1835928,NA +GARD:0015469,GeneticAlliance,8258,NA +GARD:0015470,OMIM,609915,Exact +GARD:0015470,DiseaseOntology,110442,NA +GARD:0015470,UMLS,C1835926,NA +GARD:0015471,OMIM,610092,Exact +GARD:0015471,UMLS,C1864721,NA +GARD:0015471,GeneticAlliance,8880,NA +GARD:0015472,OMIM,610181,Exact +GARD:0015472,UMLS,C3489724,NA +GARD:0015472,DiseaseOntology,50629,NA +GARD:0015473,OMIM,610185,Exact +GARD:0015473,UMLS,C2750234,NA +GARD:0015473,DiseaseOntology,50997,NA +GARD:0015474,OMIM,610187,Exact +GARD:0015474,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/congenital-diaphragmatic-hernia,NA +GARD:0015474,UMLS,C1857781,NA +GARD:0015474,GeneticAlliance,8234,NA +GARD:0015474,DiseaseOntology,3827,NA +GARD:0015475,OMIM,610188,Exact +GARD:0015475,UMLS,C1857780,NA +GARD:0015475,DiseaseOntology,111000,NA +GARD:0015475,GeneticAlliance,3922,NA +GARD:0015476,OMIM,610189,Exact +GARD:0015476,UMLS,C1857779,NA +GARD:0015476,GeneticAlliance,9282,NA +GARD:0015476,DiseaseOntology,50576,NA +GARD:0015477,OMIM,610283,Exact +GARD:0015477,DiseaseOntology,111017,NA +GARD:0015477,GeneticAlliance,8038,NA +GARD:0015477,UMLS,C1846529,NA +GARD:0015478,OMIM,610321,Exact +GARD:0015478,UMLS,C1853195,NA +GARD:0015478,DiseaseOntology,10283,NA +GARD:0015479,OMIM,610329,Exact +GARD:0015479,DiseaseOntology,50629,NA +GARD:0015479,UMLS,C1835916,NA +GARD:0015480,OMIM,610333,Exact +GARD:0015480,DiseaseOntology,50629,NA +GARD:0015480,UMLS,C1835912,NA +GARD:0015481,OMIM,610353,Exact +GARD:0015481,UMLS,C4692954,NA +GARD:0015481,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy,NA +GARD:0015481,UMLS,C4692955,NA +GARD:0015481,GeneticAlliance,8333,NA +GARD:0015481,DiseaseOntology,60685,NA +GARD:0015481,UMLS,C1835905,NA +GARD:0015482,OMIM,610374,Exact +GARD:0015482,GeneticAlliance,9419,NA +GARD:0015482,SNOMED-CT,609580007,NA +GARD:0015482,DiseaseOntology,60334,NA +GARD:0015482,UMLS,C1835887,NA +GARD:0015483,OMIM,610379,Exact +GARD:0015483,GeneticAlliance,9475,NA +GARD:0015483,UMLS,C1835867,NA +GARD:0015484,OMIM,610381,Exact +GARD:0015484,DiseaseOntology,111018,NA +GARD:0015484,UMLS,C1835865,NA +GARD:0015484,GeneticAlliance,8039,NA +GARD:0015485,OMIM,610427,Exact +GARD:0015485,GeneticAlliance,9016,NA +GARD:0015485,UMLS,C4041558,NA +GARD:0015486,OMIM,610430,Exact +GARD:0015486,DiseaseOntology,60901,NA +GARD:0015486,UMLS,C1864876,NA +GARD:0015487,OMIM,610444,Exact +GARD:0015487,GeneticAlliance,9011,NA +GARD:0015487,UMLS,C1864870,NA +GARD:0015487,DiseaseOntology,110715,NA +GARD:0015488,OMIM,610445,Exact +GARD:0015488,GeneticAlliance,9009,NA +GARD:0015488,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/autosomal-dominant-congenital-stationary-night-blindness,NA +GARD:0015488,UMLS,C1864869,NA +GARD:0015488,DiseaseOntology,110862,NA +GARD:0015489,OMIM,610475,Exact +GARD:0015489,GeneticAlliance,9111,NA +GARD:0015489,DiseaseOntology,60280,NA +GARD:0015489,UMLS,C1864851,NA +GARD:0015490,OMIM,610582,Exact +GARD:0015490,SNOMED-CT,609581006,NA +GARD:0015490,DiseaseOntology,60334,NA +GARD:0015490,UMLS,C1864623,NA +GARD:0015490,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/gestational-diabetes,NA +GARD:0015490,GeneticAlliance,9420,NA +GARD:0015492,OMIM,610685,Exact +GARD:0015492,UMLS,C1853156,NA +GARD:0015493,OMIM,610687,Exact +GARD:0015493,UMLS,C1853154,NA +GARD:0015493,GeneticAlliance,8971,NA +GARD:0015493,DiseaseOntology,110934,NA +GARD:0015494,OMIM,610688,Exact +GARD:0015494,GeneticAlliance,3923,NA +GARD:0015494,DiseaseOntology,111001,NA +GARD:0015494,UMLS,C1853153,NA +GARD:0015495,OMIM,610725,Exact +GARD:0015495,UMLS,C1853124,NA +GARD:0015495,DiseaseOntology,80382,NA +GARD:0015495,GeneticAlliance,8988,NA +GARD:0015496,OMIM,610753,Exact +GARD:0015496,DiseaseOntology,986,NA +GARD:0015496,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/alopecia-areata,NA +GARD:0015496,UMLS,C1853104,NA +GARD:0015497,OMIM,610756,Exact +GARD:0015497,UMLS,C1853102,NA +GARD:0015497,DiseaseOntology,80912,NA +GARD:0015497,GeneticAlliance,7946,NA +GARD:0015498,OMIM,610758,Exact +GARD:0015498,UMLS,C1853100,NA +GARD:0015498,GeneticAlliance,7947,NA +GARD:0015498,DiseaseOntology,80914,NA +GARD:0015499,OMIM,610759,Exact +GARD:0015499,DiseaseOntology,80507,NA +GARD:0015499,UMLS,C1853099,NA +GARD:0015499,GeneticAlliance,1920,NA +GARD:0015500,OMIM,610832,Exact +GARD:0015500,DiseaseOntology,111094,NA +GARD:0015500,UMLS,C1835817,NA +GARD:0015500,GeneticAlliance,8419,NA +GARD:0015501,OMIM,610840,Exact +GARD:0015501,UMLS,C1835814,NA +GARD:0015501,DiseaseOntology,988,NA +GARD:0015502,OMIM,610852,Exact +GARD:0015502,DiseaseOntology,110606,NA +GARD:0015502,GeneticAlliance,7989,NA +GARD:0015502,UMLS,C1970506,NA +GARD:0015503,OMIM,610896,Exact +GARD:0015503,GeneticAlliance,957,NA +GARD:0015503,DiseaseOntology,111424,NA +GARD:0015503,UMLS,C1970479,NA +GARD:0015503,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/branchiootorenal-branchiootic-syndrome,NA +GARD:0015504,OMIM,610988,Exact +GARD:0015504,UMLS,C1970254,NA +GARD:0015504,GeneticAlliance,8734,NA +GARD:0015505,OMIM,610997,Exact +GARD:0015505,UMLS,C1970250,NA +GARD:0015505,DiseaseOntology,10283,NA +GARD:0015506,OMIM,611031,Exact +GARD:0015506,DiseaseOntology,90054,NA +GARD:0015506,GeneticAlliance,2415,NA +GARD:0015506,UMLS,C1970238,NA +GARD:0015507,OMIM,611100,Exact +GARD:0015507,DiseaseOntology,10283,NA +GARD:0015507,UMLS,C1970192,NA +GARD:0015508,OMIM,611131,Exact +GARD:0015508,DiseaseOntology,110399,NA +GARD:0015508,UMLS,C1970163,NA +GARD:0015508,GeneticAlliance,9225,NA +GARD:0015509,OMIM,611134,Exact +GARD:0015509,UMLS,C1970161,NA +GARD:0015509,DiseaseOntology,70118,NA +GARD:0015509,GeneticAlliance,8794,NA +GARD:0015510,OMIM,611147,Exact +GARD:0015510,UMLS,C1970149,NA +GARD:0015510,DiseaseOntology,90047,NA +GARD:0015510,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-paroxysmal-nonkinesigenic-dyskinesia,NA +GARD:0015511,OMIM,611263,Exact +GARD:0015511,DiseaseOntology,110086,NA +GARD:0015511,GeneticAlliance,7717,NA +GARD:0015511,UMLS,C1970005,NA +GARD:0015512,OMIM,611363,Exact +GARD:0015512,DiseaseOntology,110109,NA +GARD:0015512,UMLS,C1969657,NA +GARD:0015512,GeneticAlliance,7741,NA +GARD:0015513,OMIM,611364,Exact +GARD:0015513,DiseaseOntology,111327,NA +GARD:0015513,UMLS,C1969656,NA +GARD:0015514,OMIM,611383,Exact +GARD:0015514,GeneticAlliance,9438,NA +GARD:0015514,DiseaseOntology,110840,NA +GARD:0015514,UMLS,C1568249,NA +GARD:0015515,OMIM,611407,Exact +GARD:0015515,GeneticAlliance,8261,NA +GARD:0015515,DiseaseOntology,110446,NA +GARD:0015515,UMLS,C1969639,NA +GARD:0015516,OMIM,611493,Exact +GARD:0015516,DiseaseOntology,50650,NA +GARD:0015516,UMLS,C1862394,NA +GARD:0015516,GeneticAlliance,7735,NA +GARD:0015517,OMIM,611494,Exact +GARD:0015517,UMLS,C1969099,NA +GARD:0015517,DiseaseOntology,50650,NA +GARD:0015518,OMIM,611554,Exact +GARD:0015518,UMLS,C1969056,NA +GARD:0015518,GeneticAlliance,8729,NA +GARD:0015518,DiseaseOntology,80549,NA +GARD:0015519,OMIM,611560,Exact +GARD:0015519,UMLS,C1969053,NA +GARD:0015519,DiseaseOntology,111002,NA +GARD:0015519,GeneticAlliance,8693,NA +GARD:0015520,OMIM,611561,Exact +GARD:0015520,DiseaseOntology,70119,NA +GARD:0015520,GeneticAlliance,8795,NA +GARD:0015520,UMLS,C1969052,NA +GARD:0015521,OMIM,611584,Exact +GARD:0015521,DiseaseOntology,110956,NA +GARD:0015521,GeneticAlliance,9463,NA +GARD:0015521,UMLS,C2700405,NA +GARD:0015522,OMIM,611615,Exact +GARD:0015522,UMLS,C1969024,NA +GARD:0015522,GeneticAlliance,8262,NA +GARD:0015522,DiseaseOntology,110444,NA +GARD:0015523,OMIM,611631,Exact +GARD:0015523,DiseaseOntology,60753,NA +GARD:0015523,UMLS,C1968847,NA +GARD:0015524,OMIM,611638,Exact +GARD:0015524,UMLS,C1968843,NA +GARD:0015524,GeneticAlliance,8881,NA +GARD:0015525,OMIM,611644,Exact +GARD:0015525,DiseaseOntology,10487,NA +GARD:0015525,UMLS,C1968840,NA +GARD:0015526,OMIM,611777,Exact +GARD:0015526,DiseaseOntology,110219,NA +GARD:0015526,GeneticAlliance,7874,NA +GARD:0015526,UMLS,C2673193,NA +GARD:0015527,OMIM,611788,Exact +GARD:0015527,DiseaseOntology,14004,NA +GARD:0015527,GeneticAlliance,7699,NA +GARD:0015527,UMLS,C2673186,NA +GARD:0015528,OMIM,611804,Exact +GARD:0015528,GeneticAlliance,8303,NA +GARD:0015528,UMLS,C2678497,NA +GARD:0015528,DiseaseOntology,2373,NA +GARD:0015529,OMIM,611868,Exact +GARD:0015529,GeneticAlliance,9177,NA +GARD:0015529,UMLS,C2678479,NA +GARD:0015529,DiseaseOntology,10283,NA +GARD:0015530,OMIM,611878,Exact +GARD:0015530,GeneticAlliance,8263,NA +GARD:0015530,UMLS,C3808145,NA +GARD:0015530,DiseaseOntology,110457,NA +GARD:0015530,UMLS,C2678476,NA +GARD:0015531,OMIM,611879,Exact +GARD:0015531,GeneticAlliance,8264,NA +GARD:0015531,DiseaseOntology,110434,NA +GARD:0015531,UMLS,C2678475,NA +GARD:0015532,OMIM,611880,Exact +GARD:0015532,UMLS,C2678474,NA +GARD:0015532,DiseaseOntology,110460,NA +GARD:0015532,GeneticAlliance,8265,NA +GARD:0015533,OMIM,611884,Exact +GARD:0015533,UMLS,C2678473,NA +GARD:0015533,DiseaseOntology,110605,NA +GARD:0015533,GeneticAlliance,7990,NA +GARD:0015533,UMLS,C4552030,NA +GARD:0015534,OMIM,611928,Exact +GARD:0015534,DiseaseOntology,10283,NA +GARD:0015534,UMLS,C2677821,NA +GARD:0015534,GeneticAlliance,9178,NA +GARD:0015535,OMIM,611938,Exact +GARD:0015535,UMLS,C2677794,NA +GARD:0015535,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/catecholaminergic-polymorphic-ventricular-tachycardia,NA +GARD:0015535,DiseaseOntology,60676,NA +GARD:0015535,GeneticAlliance,9448,NA +GARD:0015536,OMIM,611955,Exact +GARD:0015536,DiseaseOntology,10283,NA +GARD:0015536,UMLS,C2677773,NA +GARD:0015537,OMIM,611958,Exact +GARD:0015537,DiseaseOntology,10283,NA +GARD:0015537,UMLS,C2677772,NA +GARD:0015538,OMIM,611959,Exact +GARD:0015538,UMLS,C2677771,NA +GARD:0015538,DiseaseOntology,10283,NA +GARD:0015539,OMIM,612016,Exact +GARD:0015539,GeneticAlliance,9342,NA +GARD:0015539,UMLS,C2677589,NA +GARD:0015539,DiseaseOntology,70241,NA +GARD:0015540,OMIM,612069,Exact +GARD:0015540,GeneticAlliance,402,NA +GARD:0015540,DiseaseOntology,60201,NA +GARD:0015540,UMLS,C2677565,NA +GARD:0015541,OMIM,612076,Exact +GARD:0015541,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/gout,NA +GARD:0015541,UMLS,C2677549,NA +GARD:0015541,UMLS,C2677551,NA +GARD:0015541,UMLS,C2677550,NA +GARD:0015541,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/renal-hypouricemia,NA +GARD:0015541,GeneticAlliance,9217,NA +GARD:0015542,OMIM,612132,Exact +GARD:0015542,UMLS,C2677481,NA +GARD:0015542,GeneticAlliance,8291,NA +GARD:0015542,DiseaseOntology,81079,NA +GARD:0015543,OMIM,612158,Exact +GARD:0015543,UMLS,C2677338,NA +GARD:0015543,UMLS,C4225403,NA +GARD:0015543,DiseaseOntology,110428,NA +GARD:0015543,GeneticAlliance,8241,NA +GARD:0015544,OMIM,612201,Exact +GARD:0015544,DiseaseOntology,50650,NA +GARD:0015544,GeneticAlliance,7736,NA +GARD:0015544,UMLS,C2677294,NA +GARD:0015545,OMIM,612240,Exact +GARD:0015545,UMLS,C2677106,NA +GARD:0015545,DiseaseOntology,50650,NA +GARD:0015545,GeneticAlliance,7737,NA +GARD:0015546,OMIM,612274,Exact +GARD:0015546,UMLS,C2677085,NA +GARD:0015546,DiseaseOntology,110616,NA +GARD:0015547,OMIM,612281,Exact +GARD:0015547,GeneticAlliance,7788,NA +GARD:0015547,UMLS,C2677065,NA +GARD:0015547,DiseaseOntology,60715,NA +GARD:0015548,OMIM,612284,Exact +GARD:0015548,UMLS,C2676790,NA +GARD:0015548,DiseaseOntology,70120,NA +GARD:0015548,GeneticAlliance,8796,NA +GARD:0015549,OMIM,612285,Exact +GARD:0015549,UMLS,C2676788,NA +GARD:0015549,DiseaseOntology,111004,NA +GARD:0015549,GeneticAlliance,8695,NA +GARD:0015550,OMIM,612291,Exact +GARD:0015550,UMLS,C2676771,NA +GARD:0015550,GeneticAlliance,8694,NA +GARD:0015550,DiseaseOntology,111003,NA +GARD:0015551,OMIM,612293,Exact +GARD:0015551,UMLS,C2676769,NA +GARD:0015552,OMIM,612353,Exact +GARD:0015552,UMLS,C2676508,NA +GARD:0015553,OMIM,612389,Exact +GARD:0015553,UMLS,C2676466,NA +GARD:0015553,DiseaseOntology,60268,NA +GARD:0015553,GeneticAlliance,9134,NA +GARD:0015554,OMIM,612390,Exact +GARD:0015554,GeneticAlliance,9135,NA +GARD:0015554,DiseaseOntology,60269,NA +GARD:0015554,UMLS,C2676465,NA +GARD:0015555,OMIM,612417,Exact +GARD:0015555,UMLS,C2676275,NA +GARD:0015555,DiseaseOntology,8986,NA +GARD:0015556,OMIM,612437,Exact +GARD:0015556,SNOMED-CT,702326000,NA +GARD:0015556,GeneticAlliance,9167,NA +GARD:0015556,UMLS,C2676254,NA +GARD:0015556,DiseaseOntology,111448,NA +GARD:0015556,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia,NA +GARD:0015557,OMIM,612438,Exact +GARD:0015557,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/tubb4a-related-leukodystrophy,NA +GARD:0015557,DiseaseOntology,60798,NA +GARD:0015557,UMLS,C2676244,NA +GARD:0015557,SNOMED-CT,724283004,NA +GARD:0015558,OMIM,612444,Exact +GARD:0015558,GeneticAlliance,7991,NA +GARD:0015558,UMLS,C2676235,NA +GARD:0015558,DiseaseOntology,110622,NA +GARD:0015559,OMIM,612469,Exact +GARD:0015559,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/wagr-syndrome,NA +GARD:0015559,UMLS,C2675904,NA +GARD:0015560,OMIM,612518,Exact +GARD:0015560,UMLS,C2675867,NA +GARD:0015560,DiseaseOntology,110612,NA +GARD:0015560,GeneticAlliance,7980,NA +GARD:0015561,OMIM,612527,Exact +GARD:0015561,DiseaseOntology,111890,NA +GARD:0015561,GeneticAlliance,8228,NA +GARD:0015561,UMLS,C2675860,NA +GARD:0015562,OMIM,612528,Exact +GARD:0015562,DiseaseOntology,111883,NA +GARD:0015562,GeneticAlliance,8229,NA +GARD:0015562,UMLS,C2675859,NA +GARD:0015563,OMIM,612529,Exact +GARD:0015563,GeneticAlliance,7677,NA +GARD:0015563,UMLS,C2675858,NA +GARD:0015563,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta,NA +GARD:0015563,DiseaseOntology,110060,NA +GARD:0015564,OMIM,612551,Exact +GARD:0015564,GeneticAlliance,8438,NA +GARD:0015564,UMLS,C2675525,NA +GARD:0015565,OMIM,612557,Exact +GARD:0015565,DiseaseOntology,1040,NA +GARD:0015565,UMLS,C2675516,NA +GARD:0015566,OMIM,612558,Exact +GARD:0015566,UMLS,C2675515,NA +GARD:0015566,DiseaseOntology,1040,NA +GARD:0015567,OMIM,612559,Exact +GARD:0015567,DiseaseOntology,1040,NA +GARD:0015567,UMLS,C2675514,NA +GARD:0015568,OMIM,612561,Exact +GARD:0015568,GeneticAlliance,2247,NA +GARD:0015568,DiseaseOntology,111879,NA +GARD:0015568,UMLS,C2931850,NA +GARD:0015569,OMIM,612562,Exact +GARD:0015569,DiseaseOntology,111878,NA +GARD:0015569,GeneticAlliance,8230,NA +GARD:0015569,UMLS,C2675512,NA +GARD:0015570,OMIM,612563,Exact +GARD:0015570,DiseaseOntology,111881,NA +GARD:0015570,UMLS,C2675511,NA +GARD:0015570,GeneticAlliance,8231,NA +GARD:0015571,OMIM,612572,Exact +GARD:0015571,GeneticAlliance,9233,NA +GARD:0015571,DiseaseOntology,110409,NA +GARD:0015571,UMLS,C2675496,NA +GARD:0015572,OMIM,612576,Exact +GARD:0015572,UMLS,C2675492,NA +GARD:0015573,OMIM,612632,Exact +GARD:0015573,DiseaseOntology,110835,NA +GARD:0015573,UMLS,C2675458,NA +GARD:0015574,OMIM,612649,Exact +GARD:0015574,UMLS,C2675229,NA +GARD:0015574,DiseaseOntology,110602,NA +GARD:0015574,GeneticAlliance,7981,NA +GARD:0015575,OMIM,612650,Exact +GARD:0015575,UMLS,C2675228,NA +GARD:0015575,GeneticAlliance,7982,NA +GARD:0015575,DiseaseOntology,110601,NA +GARD:0015576,OMIM,612653,Exact +GARD:0015576,UMLS,C2675212,NA +GARD:0015576,GeneticAlliance,9333,NA +GARD:0015576,DiseaseOntology,110919,NA +GARD:0015577,OMIM,612657,Exact +GARD:0015577,UMLS,C2675210,NA +GARD:0015577,GeneticAlliance,8040,NA +GARD:0015577,DiseaseOntology,111019,NA +GARD:0015578,OMIM,612690,Exact +GARD:0015578,UMLS,C2675192,NA +GARD:0015578,DiseaseOntology,110920,NA +GARD:0015578,GeneticAlliance,9334,NA +GARD:0015578,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hereditary-spherocytosis,NA +GARD:0015579,OMIM,612692,Exact +GARD:0015579,UMLS,C3150207,NA +GARD:0015579,GeneticAlliance,7647,NA +GARD:0015579,DiseaseOntology,2583,NA +GARD:0015580,OMIM,612703,Exact +GARD:0015580,GeneticAlliance,9161,NA +GARD:0015580,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/autosomal-recessive-primary-microcephaly,NA +GARD:0015580,DiseaseOntology,70278,NA +GARD:0015580,UMLS,C2675187,NA +GARD:0015581,OMIM,612715,Exact +GARD:0015581,DiseaseOntology,60304,NA +GARD:0015581,UMLS,C2675183,NA +GARD:0015582,OMIM,612775,Exact +GARD:0015582,GeneticAlliance,8045,NA +GARD:0015582,UMLS,C1423873,NA +GARD:0015582,DiseaseOntology,111020,NA +GARD:0015583,OMIM,612798,Exact +GARD:0015583,UMLS,C2748545,NA +GARD:0015584,OMIM,612838,Exact +GARD:0015584,DiseaseOntology,110222,NA +GARD:0015584,GeneticAlliance,7875,NA +GARD:0015584,UMLS,C2748541,NA +GARD:0015585,OMIM,612841,Exact +GARD:0015585,DiseaseOntology,110702,NA +GARD:0015585,UMLS,C2748535,NA +GARD:0015586,OMIM,612843,Exact +GARD:0015586,UMLS,C2748527,NA +GARD:0015586,DiseaseOntology,80755,NA +GARD:0015587,OMIM,612851,Exact +GARD:0015587,UMLS,C2748508,NA +GARD:0015587,DiseaseOntology,8986,NA +GARD:0015588,OMIM,612877,Exact +GARD:0015588,GeneticAlliance,8242,NA +GARD:0015588,UMLS,C2752072,NA +GARD:0015588,DiseaseOntology,110458,NA +GARD:0015589,OMIM,612881,Exact +GARD:0015589,DiseaseOntology,50454,NA +GARD:0015589,UMLS,C2752071,NA +GARD:0015590,OMIM,612908,Exact +GARD:0015590,UMLS,C1852127,NA +GARD:0015590,GeneticAlliance,8708,NA +GARD:0015591,OMIM,612921,Exact +GARD:0015591,GeneticAlliance,9387,NA +GARD:0015591,UMLS,C2752041,NA +GARD:0015591,DiseaseOntology,60241,NA +GARD:0015592,OMIM,612936,Exact +GARD:0015592,GeneticAlliance,7942,NA +GARD:0015592,UMLS,C2752008,NA +GARD:0015592,DiseaseOntology,110802,NA +GARD:0015593,OMIM,612943,Exact +GARD:0015593,DiseaseOntology,110386,NA +GARD:0015593,GeneticAlliance,9229,NA +GARD:0015593,UMLS,C2751986,NA +GARD:0015595,OMIM,612955,Exact +GARD:0015595,UMLS,C2751830,NA +GARD:0015595,DiseaseOntology,110653,NA +GARD:0015595,GeneticAlliance,8765,NA +GARD:0015596,OMIM,612956,Exact +GARD:0015596,UMLS,C2751829,NA +GARD:0015596,GeneticAlliance,9444,NA +GARD:0015597,OMIM,612961,Exact +GARD:0015597,DiseaseOntology,50794,NA +GARD:0015597,GeneticAlliance,8924,NA +GARD:0015597,UMLS,C2751826,NA +GARD:0015598,OMIM,612965,Exact +GARD:0015598,GeneticAlliance,7614,NA +GARD:0015598,UMLS,C3489793,NA +GARD:0015598,DiseaseOntology,111772,NA +GARD:0015599,OMIM,612968,Exact +GARD:0015599,UMLS,C2751822,NA +GARD:0015599,DiseaseOntology,110230,NA +GARD:0015600,OMIM,613002,Exact +GARD:0015600,GeneticAlliance,8545,NA +GARD:0015600,UMLS,C2751803,NA +GARD:0015601,OMIM,613007,Exact +GARD:0015601,DiseaseOntology,12236,NA +GARD:0015601,UMLS,C2751696,NA +GARD:0015602,OMIM,613008,Exact +GARD:0015602,DiseaseOntology,12236,NA +GARD:0015602,UMLS,C2751695,NA +GARD:0015603,OMIM,613013,Exact +GARD:0015603,GeneticAlliance,8995,NA +GARD:0015603,UMLS,C2751682,NA +GARD:0015604,OMIM,613014,Exact +GARD:0015604,UMLS,C2751681,NA +GARD:0015604,GeneticAlliance,8996,NA +GARD:0015604,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/neuroblastoma,NA +GARD:0015605,OMIM,613015,Exact +GARD:0015605,UMLS,C2751680,NA +GARD:0015606,OMIM,613016,Exact +GARD:0015606,UMLS,C2751679,NA +GARD:0015607,OMIM,613017,Exact +GARD:0015607,UMLS,C2751678,NA +GARD:0015608,OMIM,613024,Exact +GARD:0015608,GeneticAlliance,8441,NA +GARD:0015608,UMLS,C2751665,NA +GARD:0015609,OMIM,613055,Exact +GARD:0015609,UMLS,C2751607,NA +GARD:0015609,DiseaseOntology,50650,NA +GARD:0015610,OMIM,613073,Exact +GARD:0015610,UMLS,C2751322,NA +GARD:0015610,GeneticAlliance,8860,NA +GARD:0015611,OMIM,613080,Exact +GARD:0015611,UMLS,C2751317,NA +GARD:0015611,GeneticAlliance,7615,NA +GARD:0015611,DiseaseOntology,111776,NA +GARD:0015612,OMIM,613090,Exact +GARD:0015612,UMLS,C4310805,NA +GARD:0015612,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/bartter-syndrome,NA +GARD:0015612,DiseaseOntology,110146,NA +GARD:0015612,GeneticAlliance,7802,NA +GARD:0015613,OMIM,613091,Exact +GARD:0015613,DiseaseOntology,110087,NA +GARD:0015613,SNOMED-CT,726032008,NA +GARD:0015613,GeneticAlliance,7718,NA +GARD:0015613,UMLS,C0432197,NA +GARD:0015613,UMLS,C0036069,NA +GARD:0015613,SNOMED-CT,254051008,NA +GARD:0015614,OMIM,613101,Exact +GARD:0015614,DiseaseOntology,110925,NA +GARD:0015614,GeneticAlliance,8503,NA +GARD:0015614,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-hemophagocytic-lymphohistiocytosis,NA +GARD:0015614,UMLS,C2751293,NA +GARD:0015615,OMIM,613105,Exact +GARD:0015615,GeneticAlliance,7973,NA +GARD:0015615,DiseaseOntology,9822,NA +GARD:0015615,UMLS,C2751290,NA +GARD:0015616,OMIM,613107,Exact +GARD:0015616,DiseaseOntology,112131,NA +GARD:0015616,UMLS,C2751288,NA +GARD:0015616,GeneticAlliance,9005,NA +GARD:0015617,OMIM,613108,Exact +GARD:0015617,SNOMED-CT,235073000,NA +GARD:0015617,DiseaseOntology,2058,NA +GARD:0015617,GeneticAlliance,7884,NA +GARD:0015617,UMLS,C0341024,NA +GARD:0015618,OMIM,613115,Exact +GARD:0015618,DiseaseOntology,70150,NA +GARD:0015618,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hereditary-sensory-and-autonomic-neuropathy-type-ii,NA +GARD:0015618,GeneticAlliance,8534,NA +GARD:0015618,SNOMED-CT,860810005,NA +GARD:0015618,UMLS,C2751092,NA +GARD:0015619,OMIM,613119,Exact +GARD:0015619,UMLS,C2751089,NA +GARD:0015619,DiseaseOntology,110223,NA +GARD:0015619,GeneticAlliance,7876,NA +GARD:0015620,OMIM,613120,Exact +GARD:0015620,UMLS,C4013699,NA +GARD:0015620,DiseaseOntology,110224,NA +GARD:0015620,UMLS,C2751088,NA +GARD:0015620,GeneticAlliance,7877,NA +GARD:0015621,OMIM,613122,Exact +GARD:0015621,GeneticAlliance,8244,NA +GARD:0015621,UMLS,C2751084,NA +GARD:0015621,DiseaseOntology,110424,NA +GARD:0015622,OMIM,613123,Exact +GARD:0015622,DiseaseOntology,110225,NA +GARD:0015622,UMLS,C2751083,NA +GARD:0015622,GeneticAlliance,7878,NA +GARD:0015623,OMIM,613144,Exact +GARD:0015623,UMLS,C2751055,NA +GARD:0015624,OMIM,613150,Exact +GARD:0015624,GeneticAlliance,8070,NA +GARD:0015624,DiseaseOntology,111240,NA +GARD:0015624,UMLS,C3150411,NA +GARD:0015625,OMIM,613153,Exact +GARD:0015625,DiseaseOntology,111241,NA +GARD:0015625,UMLS,C3150413,NA +GARD:0015625,GeneticAlliance,8068,NA +GARD:0015626,OMIM,613154,Exact +GARD:0015626,UMLS,C3150414,NA +GARD:0015626,DiseaseOntology,111242,NA +GARD:0015626,GeneticAlliance,8071,NA +GARD:0015627,OMIM,613172,Exact +GARD:0015627,GeneticAlliance,8246,NA +GARD:0015627,UMLS,C2750995,NA +GARD:0015627,DiseaseOntology,110447,NA +GARD:0015628,OMIM,613193,Exact +GARD:0015628,GeneticAlliance,7983,NA +GARD:0015628,UMLS,C2750790,NA +GARD:0015628,DiseaseOntology,110618,NA +GARD:0015629,OMIM,613194,Exact +GARD:0015629,DiseaseOntology,110396,NA +GARD:0015629,UMLS,C2750789,NA +GARD:0015629,GeneticAlliance,9237,NA +GARD:0015630,OMIM,613211,Exact +GARD:0015630,DiseaseOntology,110061,NA +GARD:0015630,GeneticAlliance,7678,NA +GARD:0015630,UMLS,C2750771,NA +GARD:0015631,OMIM,613216,Exact +GARD:0015631,GeneticAlliance,9013,NA +GARD:0015631,DiseaseOntology,110867,NA +GARD:0015631,UMLS,C2750747,NA +GARD:0015632,OMIM,613223,Exact +GARD:0015632,UMLS,C2750733,NA +GARD:0015632,GeneticAlliance,8735,NA +GARD:0015633,OMIM,613225,Exact +GARD:0015633,SNOMED-CT,439455002,NA +GARD:0015633,GeneticAlliance,8369,NA +GARD:0015633,DiseaseOntology,2211,NA +GARD:0015633,UMLS,C2750514,NA +GARD:0015634,OMIM,613227,Exact +GARD:0015634,GeneticAlliance,7935,NA +GARD:0015634,DiseaseOntology,50997,NA +GARD:0015634,UMLS,C2750509,NA +GARD:0015635,OMIM,613235,Exact +GARD:0015635,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/factor-xiii-deficiency,NA +GARD:0015635,DiseaseOntology,2211,NA +GARD:0015635,UMLS,C2750481,NA +GARD:0015635,GeneticAlliance,8370,NA +GARD:0015636,OMIM,613237,Exact +GARD:0015636,DiseaseOntology,111130,NA +GARD:0015636,UMLS,C2750475,NA +GARD:0015636,GeneticAlliance,8439,NA +GARD:0015637,OMIM,613239,Exact +GARD:0015637,GeneticAlliance,9408,NA +GARD:0015637,UMLS,C2750473,NA +GARD:0015638,OMIM,613244,Exact +GARD:0015638,DiseaseOntology,70270,NA +GARD:0015638,UMLS,C2750471,NA +GARD:0015638,GeneticAlliance,8531,NA +GARD:0015639,OMIM,613252,Exact +GARD:0015639,GeneticAlliance,8248,NA +GARD:0015639,DiseaseOntology,110453,NA +GARD:0015639,UMLS,C2750466,NA +GARD:0015640,OMIM,613254,Exact +GARD:0015640,UMLS,C1860707,NA +GARD:0015640,DiseaseOntology,80325,NA +GARD:0015640,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/tuberous-sclerosis-complex,NA +GARD:0015641,OMIM,613265,Exact +GARD:0015641,DiseaseOntology,110954,NA +GARD:0015641,UMLS,C2750457,NA +GARD:0015641,GeneticAlliance,9465,NA +GARD:0015642,OMIM,613266,Exact +GARD:0015642,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/waardenburg-syndrome,NA +GARD:0015642,DiseaseOntology,110955,NA +GARD:0015642,UMLS,C2750452,NA +GARD:0015642,GeneticAlliance,9466,NA +GARD:0015643,OMIM,613286,Exact +GARD:0015643,UMLS,C2750091,NA +GARD:0015643,DiseaseOntology,110459,NA +GARD:0015643,GeneticAlliance,8250,NA +GARD:0015644,OMIM,613308,Exact +GARD:0015644,DiseaseOntology,111884,NA +GARD:0015644,UMLS,C2750081,NA +GARD:0015644,GeneticAlliance,8232,NA +GARD:0015645,OMIM,613309,Exact +GARD:0015645,GeneticAlliance,8227,NA +GARD:0015645,UMLS,C2750080,NA +GARD:0015645,DiseaseOntology,111888,NA +GARD:0015646,OMIM,613310,Exact +GARD:0015646,GeneticAlliance,8365,NA +GARD:0015646,DiseaseOntology,111408,NA +GARD:0015646,UMLS,C2750079,NA +GARD:0015647,OMIM,613313,Exact +GARD:0015647,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hereditary-hemochromatosis,NA +GARD:0015647,UMLS,C1865616,NA +GARD:0015647,DiseaseOntology,111032,NA +GARD:0015647,GeneticAlliance,8501,NA +GARD:0015648,OMIM,613318,Exact +GARD:0015648,DiseaseOntology,70200,NA +GARD:0015648,UMLS,C2750077,NA +GARD:0015649,OMIM,613345,Exact +GARD:0015649,DiseaseOntology,14452,NA +GARD:0015649,GeneticAlliance,8612,NA +GARD:0015649,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hypokalemic-periodic-paralysis,NA +GARD:0015649,UMLS,C2750061,NA +GARD:0015650,OMIM,613347,Exact +GARD:0015650,UMLS,C3150546,NA +GARD:0015650,GeneticAlliance,9069,NA +GARD:0015651,OMIM,613348,Exact +GARD:0015651,UMLS,C3150547,NA +GARD:0015651,GeneticAlliance,9070,NA +GARD:0015652,OMIM,613370,Exact +GARD:0015652,SNOMED-CT,609577006,NA +GARD:0015652,UMLS,C3150617,NA +GARD:0015652,DiseaseOntology,111108,NA +GARD:0015652,GeneticAlliance,8789,NA +GARD:0015653,OMIM,613375,Exact +GARD:0015653,SNOMED-CT,609578001,NA +GARD:0015653,DiseaseOntology,111109,NA +GARD:0015653,GeneticAlliance,8790,NA +GARD:0015653,UMLS,C3150618,NA +GARD:0015654,OMIM,613382,Exact +GARD:0015654,GeneticAlliance,7861,NA +GARD:0015654,DiseaseOntology,110976,NA +GARD:0015654,UMLS,C3150644,NA +GARD:0015655,OMIM,613388,Exact +GARD:0015655,DiseaseOntology,80758,NA +GARD:0015655,GeneticAlliance,8422,NA +GARD:0015655,UMLS,C3150652,NA +GARD:0015656,OMIM,613390,Exact +GARD:0015656,DiseaseOntology,111096,NA +GARD:0015656,UMLS,C3150653,NA +GARD:0015656,GeneticAlliance,8420,NA +GARD:0015657,OMIM,613399,Exact +GARD:0015657,UMLS,C3150659,NA +GARD:0015657,GeneticAlliance,7867,NA +GARD:0015658,OMIM,613404,Exact +GARD:0015658,DiseaseOntology,111354,NA +GARD:0015658,UMLS,C3150672,NA +GARD:0015658,GeneticAlliance,7713,NA +GARD:0015659,OMIM,613407,Exact +GARD:0015659,UMLS,C3150676,NA +GARD:0015659,DiseaseOntology,1024,NA +GARD:0015659,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/leprosy,NA +GARD:0015660,OMIM,613411,Exact +GARD:0015660,GeneticAlliance,9035,NA +GARD:0015660,UMLS,C3150678,NA +GARD:0015660,DiseaseOntology,110713,NA +GARD:0015661,OMIM,613424,Exact +GARD:0015661,DiseaseOntology,110456,NA +GARD:0015661,UMLS,C3150681,NA +GARD:0015661,UMLS,C3150682,NA +GARD:0015661,GeneticAlliance,8259,NA +GARD:0015662,OMIM,613428,Exact +GARD:0015662,GeneticAlliance,9239,NA +GARD:0015662,DiseaseOntology,110364,NA +GARD:0015662,UMLS,C3150691,NA +GARD:0015663,OMIM,613435,Exact +GARD:0015663,DiseaseOntology,60203,NA +GARD:0015663,UMLS,C3150692,NA +GARD:0015663,GeneticAlliance,7688,NA +GARD:0015664,OMIM,613454,Exact +GARD:0015664,SNOMED-CT,702450004,NA +GARD:0015664,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/foxg1-syndrome,NA +GARD:0015664,DiseaseOntology,1206,NA +GARD:0015664,GeneticAlliance,9249,NA +GARD:0015664,UMLS,C3150705,NA +GARD:0015665,OMIM,613464,Exact +GARD:0015665,DiseaseOntology,110398,NA +GARD:0015665,UMLS,C3150715,NA +GARD:0015665,GeneticAlliance,9238,NA +GARD:0015666,OMIM,613485,Exact +GARD:0015666,GeneticAlliance,8766,NA +GARD:0015666,UMLS,C3150733,NA +GARD:0015666,DiseaseOntology,110654,NA +GARD:0015667,OMIM,613488,Exact +GARD:0015667,DiseaseOntology,5363,NA +GARD:0015667,SNOMED-CT,404069006,NA +GARD:0015667,GeneticAlliance,5081,NA +GARD:0015667,SNOMED-CT,27849002,NA +GARD:0015667,UMLS,C0206634,NA +GARD:0015668,OMIM,613493,Exact +GARD:0015668,UMLS,C3150738,NA +GARD:0015668,DiseaseOntology,12177,NA +GARD:0015668,GeneticAlliance,8647,NA +GARD:0015669,OMIM,613494,Exact +GARD:0015669,GeneticAlliance,8648,NA +GARD:0015669,DiseaseOntology,12177,NA +GARD:0015669,UMLS,C3150739,NA +GARD:0015670,OMIM,613495,Exact +GARD:0015670,DiseaseOntology,12177,NA +GARD:0015670,UMLS,C3150740,NA +GARD:0015670,GeneticAlliance,8649,NA +GARD:0015671,OMIM,613496,Exact +GARD:0015671,GeneticAlliance,8650,NA +GARD:0015671,DiseaseOntology,12177,NA +GARD:0015671,UMLS,C3150741,NA +GARD:0015672,OMIM,613500,Exact +GARD:0015672,UMLS,C3150750,NA +GARD:0015672,GeneticAlliance,7643,NA +GARD:0015672,DiseaseOntology,2583,NA +GARD:0015673,OMIM,613501,Exact +GARD:0015673,GeneticAlliance,7644,NA +GARD:0015673,DiseaseOntology,2583,NA +GARD:0015673,UMLS,C3150751,NA +GARD:0015674,OMIM,613502,Exact +GARD:0015674,UMLS,C3150752,NA +GARD:0015674,GeneticAlliance,7645,NA +GARD:0015674,DiseaseOntology,60027,NA +GARD:0015675,OMIM,613506,Exact +GARD:0015675,DiseaseOntology,80588,NA +GARD:0015675,UMLS,C3150753,NA +GARD:0015675,GeneticAlliance,7646,NA +GARD:0015676,OMIM,613561,Exact +GARD:0015676,GeneticAlliance,8956,NA +GARD:0015676,UMLS,C3150802,NA +GARD:0015676,DiseaseOntology,111186,NA +GARD:0015677,OMIM,613575,Exact +GARD:0015677,UMLS,C3150808,NA +GARD:0015677,DiseaseOntology,110370,NA +GARD:0015677,GeneticAlliance,9240,NA +GARD:0015678,OMIM,613581,Exact +GARD:0015678,GeneticAlliance,9241,NA +GARD:0015678,UMLS,C3150819,NA +GARD:0015678,DiseaseOntology,110371,NA +GARD:0015679,OMIM,613582,Exact +GARD:0015679,UMLS,C3150821,NA +GARD:0015679,GeneticAlliance,9242,NA +GARD:0015679,DiseaseOntology,110407,NA +GARD:0015680,OMIM,613610,Exact +GARD:0015680,DiseaseOntology,80804,NA +GARD:0015680,UMLS,C3150874,NA +GARD:0015680,GeneticAlliance,8105,NA +GARD:0015681,OMIM,613615,Exact +GARD:0015681,UMLS,C3150877,NA +GARD:0015681,DiseaseOntology,50576,NA +GARD:0015681,GeneticAlliance,9283,NA +GARD:0015681,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/senior-loken-syndrome,NA +GARD:0015682,OMIM,613617,Exact +GARD:0015682,GeneticAlliance,9243,NA +GARD:0015682,UMLS,C3150879,NA +GARD:0015682,DiseaseOntology,110362,NA +GARD:0015683,OMIM,613640,Exact +GARD:0015683,DiseaseOntology,70157,NA +GARD:0015683,SNOMED-CT,860814001,NA +GARD:0015683,UMLS,C3150896,NA +GARD:0015683,GeneticAlliance,8532,NA +GARD:0015684,OMIM,613642,Exact +GARD:0015684,UMLS,C3150898,NA +GARD:0015684,DiseaseOntology,110435,NA +GARD:0015684,GeneticAlliance,7893,NA +GARD:0015685,OMIM,613657,Exact +GARD:0015685,GeneticAlliance,8128,NA +GARD:0015685,DiseaseOntology,111352,NA +GARD:0015685,UMLS,C3150909,NA +GARD:0015686,OMIM,613660,Exact +GARD:0015686,UMLS,C3552852,NA +GARD:0015686,GeneticAlliance,8042,NA +GARD:0015686,UMLS,C3150912,NA +GARD:0015686,DiseaseOntology,111021,NA +GARD:0015687,OMIM,613676,Exact +GARD:0015687,DiseaseOntology,70010,NA +GARD:0015687,GeneticAlliance,9277,NA +GARD:0015687,UMLS,C3888212,NA +GARD:0015688,OMIM,613681,Exact +GARD:0015688,DiseaseOntology,60458,NA +GARD:0015688,UMLS,C3150940,NA +GARD:0015689,OMIM,613694,Exact +GARD:0015689,DiseaseOntology,110455,NA +GARD:0015689,UMLS,C3160720,NA +GARD:0015689,GeneticAlliance,7896,NA +GARD:0015690,OMIM,613697,Exact +GARD:0015690,GeneticAlliance,7897,NA +GARD:0015690,UMLS,C3150958,NA +GARD:0015690,DiseaseOntology,110427,NA +GARD:0015691,OMIM,613702,Exact +GARD:0015691,UMLS,C3150967,NA +GARD:0015691,GeneticAlliance,8711,NA +GARD:0015691,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/klippel-feil-syndrome,NA +GARD:0015691,DiseaseOntology,80591,NA +GARD:0015692,OMIM,613703,Exact +GARD:0015692,UMLS,C3150968,NA +GARD:0015692,GeneticAlliance,8882,NA +GARD:0015693,OMIM,613706,Exact +GARD:0015693,UMLS,C3150970,NA +GARD:0015693,GeneticAlliance,9019,NA +GARD:0015693,DiseaseOntology,60585,NA +GARD:0015694,OMIM,613707,Exact +GARD:0015694,GeneticAlliance,8730,NA +GARD:0015694,DiseaseOntology,80550,NA +GARD:0015694,UMLS,C3150971,NA +GARD:0015694,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/noonan-syndrome-with-multiple-lentigines,NA +GARD:0015695,OMIM,613708,Exact +GARD:0015695,UMLS,C3150972,NA +GARD:0015695,DiseaseOntology,70156,NA +GARD:0015695,GeneticAlliance,9000,NA +GARD:0015696,OMIM,613711,Exact +GARD:0015696,UMLS,C3150974,NA +GARD:0015697,OMIM,613712,Exact +GARD:0015697,GeneticAlliance,3429,NA +GARD:0015697,UMLS,C3150975,NA +GARD:0015697,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hirschsprung-disease,NA +GARD:0015698,OMIM,613717,Exact +GARD:0015698,GeneticAlliance,9423,NA +GARD:0015698,DiseaseOntology,80790,NA +GARD:0015698,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/treacher-collins-syndrome,NA +GARD:0015698,UMLS,C3150983,NA +GARD:0015699,OMIM,613721,Exact +GARD:0015699,UMLS,C3150987,NA +GARD:0015699,GeneticAlliance,8339,NA +GARD:0015699,DiseaseOntology,80421,NA +GARD:0015700,OMIM,613750,Exact +GARD:0015700,DiseaseOntology,110397,NA +GARD:0015700,GeneticAlliance,9224,NA +GARD:0015700,UMLS,C1834329,NA +GARD:0015701,OMIM,613756,Exact +GARD:0015701,GeneticAlliance,9236,NA +GARD:0015701,UMLS,C3151059,NA +GARD:0015701,DiseaseOntology,110377,NA +GARD:0015702,OMIM,613758,Exact +GARD:0015702,UMLS,C3151061,NA +GARD:0015702,DiseaseOntology,110369,NA +GARD:0015702,GeneticAlliance,9234,NA +GARD:0015703,OMIM,613762,Exact +GARD:0015703,GeneticAlliance,7616,NA +GARD:0015703,DiseaseOntology,111769,NA +GARD:0015703,UMLS,C3151064,NA +GARD:0015704,OMIM,613767,Exact +GARD:0015704,DiseaseOntology,110402,NA +GARD:0015704,UMLS,C3151066,NA +GARD:0015704,GeneticAlliance,9232,NA +GARD:0015705,OMIM,613769,Exact +GARD:0015705,UMLS,C3151068,NA +GARD:0015705,DiseaseOntology,110394,NA +GARD:0015705,GeneticAlliance,9231,NA +GARD:0015706,OMIM,613780,Exact +GARD:0015706,GeneticAlliance,7700,NA +GARD:0015706,UMLS,C3151077,NA +GARD:0015706,DiseaseOntology,14004,NA +GARD:0015707,OMIM,613783,Exact +GARD:0015707,GeneticAlliance,8032,NA +GARD:0015707,UMLS,C3151078,NA +GARD:0015708,OMIM,613800,Exact +GARD:0015708,UMLS,C3151097,NA +GARD:0015708,GeneticAlliance,8804,NA +GARD:0015708,DiseaseOntology,80513,NA +GARD:0015709,OMIM,613801,Exact +GARD:0015709,UMLS,C3151107,NA +GARD:0015709,GeneticAlliance,9228,NA +GARD:0015709,DiseaseOntology,110375,NA +GARD:0015710,OMIM,613803,Exact +GARD:0015710,UMLS,C3151113,NA +GARD:0015710,DiseaseOntology,80514,NA +GARD:0015710,GeneticAlliance,8805,NA +GARD:0015711,OMIM,613804,Exact +GARD:0015711,UMLS,C3151120,NA +GARD:0015711,GeneticAlliance,8806,NA +GARD:0015711,DiseaseOntology,80515,NA +GARD:0015712,OMIM,613805,Exact +GARD:0015712,UMLS,C3151126,NA +GARD:0015712,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome,NA +GARD:0015712,GeneticAlliance,8807,NA +GARD:0015712,DiseaseOntology,80516,NA +GARD:0015713,OMIM,613807,Exact +GARD:0015713,DiseaseOntology,110598,NA +GARD:0015713,GeneticAlliance,7984,NA +GARD:0015713,UMLS,C3151136,NA +GARD:0015714,OMIM,613808,Exact +GARD:0015714,GeneticAlliance,7985,NA +GARD:0015714,DiseaseOntology,110623,NA +GARD:0015714,UMLS,C3151137,NA +GARD:0015714,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia,NA +GARD:0015715,OMIM,613809,Exact +GARD:0015715,DiseaseOntology,110360,NA +GARD:0015715,GeneticAlliance,9227,NA +GARD:0015715,UMLS,C3151138,NA +GARD:0015716,OMIM,613810,Exact +GARD:0015716,DiseaseOntology,110379,NA +GARD:0015716,GeneticAlliance,9230,NA +GARD:0015716,UMLS,C3151139,NA +GARD:0015717,OMIM,613811,Exact +GARD:0015717,DiseaseOntology,60270,NA +GARD:0015717,UMLS,C3151140,NA +GARD:0015717,GeneticAlliance,9136,NA +GARD:0015718,OMIM,613819,Exact +GARD:0015718,DiseaseOntology,110088,NA +GARD:0015718,GeneticAlliance,7719,NA +GARD:0015718,UMLS,C3151185,NA +GARD:0015719,OMIM,613823,Exact +GARD:0015719,UMLS,C3151187,NA +GARD:0015719,GeneticAlliance,9278,NA +GARD:0015719,DiseaseOntology,70012,NA +GARD:0015720,OMIM,613827,Exact +GARD:0015720,DiseaseOntology,110382,NA +GARD:0015720,GeneticAlliance,9235,NA +GARD:0015720,UMLS,C3151190,NA +GARD:0015721,OMIM,613830,Exact +GARD:0015721,UMLS,C3151193,NA +GARD:0015721,GeneticAlliance,9014,NA +GARD:0015721,DiseaseOntology,110868,NA +GARD:0015722,OMIM,613849,Exact +GARD:0015722,DiseaseOntology,110348,NA +GARD:0015722,GeneticAlliance,9056,NA +GARD:0015722,UMLS,C3151433,NA +GARD:0015723,OMIM,613856,Exact +GARD:0015723,DiseaseOntology,110010,NA +GARD:0015723,UMLS,C1841721,NA +GARD:0015723,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/achromatopsia,NA +GARD:0015724,OMIM,613861,Exact +GARD:0015724,UMLS,C4693133,NA +GARD:0015724,UMLS,C3151227,NA +GARD:0015724,GeneticAlliance,9244,NA +GARD:0015724,DiseaseOntology,110352,NA +GARD:0015725,OMIM,613862,Exact +GARD:0015725,DiseaseOntology,110367,NA +GARD:0015725,GeneticAlliance,9226,NA +GARD:0015725,UMLS,C3151228,NA +GARD:0015726,OMIM,613881,Exact +GARD:0015726,UMLS,C3151293,NA +GARD:0015726,GeneticAlliance,7894,NA +GARD:0015726,DiseaseOntology,110448,NA +GARD:0015727,OMIM,613885,Exact +GARD:0015727,GeneticAlliance,8797,NA +GARD:0015727,UMLS,C3836857,NA +GARD:0015727,DiseaseOntology,70122,NA +GARD:0015728,OMIM,613925,Exact +GARD:0015728,DiseaseOntology,80318,NA +GARD:0015728,GeneticAlliance,8800,NA +GARD:0015728,UMLS,C3151355,NA +GARD:0015729,OMIM,613926,Exact +GARD:0015729,DiseaseOntology,80317,NA +GARD:0015729,UMLS,C3151356,NA +GARD:0015729,GeneticAlliance,8801,NA +GARD:0015729,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts,NA +GARD:0015730,OMIM,613930,Exact +GARD:0015730,UMLS,C3151362,NA +GARD:0015730,DiseaseOntology,80951,NA +GARD:0015731,OMIM,613951,Exact +GARD:0015731,GeneticAlliance,8421,NA +GARD:0015731,DiseaseOntology,111092,NA +GARD:0015731,UMLS,C3469542,NA +GARD:0015732,OMIM,613953,Exact +GARD:0015732,UMLS,C4310803,NA +GARD:0015732,GeneticAlliance,7885,NA +GARD:0015732,DiseaseOntology,111996,NA +GARD:0015733,OMIM,613954,Exact +GARD:0015733,UMLS,C5436279,NA +GARD:0015733,GeneticAlliance,7685,NA +GARD:0015733,DiseaseOntology,60205,NA +GARD:0015734,OMIM,613957,Exact +GARD:0015734,DiseaseOntology,70169,NA +GARD:0015734,UMLS,C3151406,NA +GARD:0015734,GeneticAlliance,9327,NA +GARD:0015735,OMIM,613958,Exact +GARD:0015735,UMLS,C3151407,NA +GARD:0015735,GeneticAlliance,9328,NA +GARD:0015735,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/globozoospermia,NA +GARD:0015735,DiseaseOntology,111156,NA +GARD:0015736,OMIM,613960,Exact +GARD:0015736,UMLS,C3151409,NA +GARD:0015736,DiseaseOntology,70194,NA +GARD:0015736,GeneticAlliance,8494,NA +GARD:0015736,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease,NA +GARD:0015737,OMIM,613980,Exact +GARD:0015737,UMLS,C3151431,NA +GARD:0015737,GeneticAlliance,7738,NA +GARD:0015737,DiseaseOntology,50650,NA +GARD:0015738,OMIM,613983,Exact +GARD:0015738,GeneticAlliance,9245,NA +GARD:0015738,UMLS,C3151434,NA +GARD:0015738,DiseaseOntology,110411,NA +GARD:0015739,OMIM,613987,Exact +GARD:0015739,GeneticAlliance,8283,NA +GARD:0015739,DiseaseOntology,70017,NA +GARD:0015739,UMLS,C3151441,NA +GARD:0015740,OMIM,613988,Exact +GARD:0015740,UMLS,C3151442,NA +GARD:0015740,DiseaseOntology,70019,NA +GARD:0015740,GeneticAlliance,8284,NA +GARD:0015741,OMIM,613989,Exact +GARD:0015741,UMLS,C3151443,NA +GARD:0015741,DiseaseOntology,70016,NA +GARD:0015741,UMLS,C3151444,NA +GARD:0015741,GeneticAlliance,8281,NA +GARD:0015742,OMIM,613990,Exact +GARD:0015742,GeneticAlliance,8282,NA +GARD:0015742,DiseaseOntology,70018,NA +GARD:0015742,UMLS,C3151445,NA +GARD:0015743,OMIM,614017,Exact +GARD:0015743,GeneticAlliance,7986,NA +GARD:0015743,UMLS,C3151460,NA +GARD:0015743,DiseaseOntology,110613,NA +GARD:0015744,OMIM,614021,Exact +GARD:0015744,DiseaseOntology,60677,NA +GARD:0015744,UMLS,C3151463,NA +GARD:0015745,OMIM,614022,Exact +GARD:0015745,GeneticAlliance,7731,NA +GARD:0015745,UMLS,C3151464,NA +GARD:0015745,DiseaseOntology,50650,NA +GARD:0015746,OMIM,614042,Exact +GARD:0015746,DiseaseOntology,13099,NA +GARD:0015746,UMLS,C3279690,NA +GARD:0015746,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/moyamoya-disease,NA +GARD:0015746,GeneticAlliance,8908,NA +GARD:0015747,OMIM,614049,Exact +GARD:0015747,GeneticAlliance,7732,NA +GARD:0015747,DiseaseOntology,50650,NA +GARD:0015747,UMLS,C3279693,NA +GARD:0015748,OMIM,614050,Exact +GARD:0015748,GeneticAlliance,7733,NA +GARD:0015748,DiseaseOntology,50650,NA +GARD:0015748,UMLS,C3279695,NA +GARD:0015749,OMIM,614066,Exact +GARD:0015749,UMLS,C3279738,NA +GARD:0015749,GeneticAlliance,7944,NA +GARD:0015749,DiseaseOntology,110799,NA +GARD:0015750,OMIM,614067,Exact +GARD:0015750,GeneticAlliance,7945,NA +GARD:0015750,UMLS,C3279743,NA +GARD:0015750,DiseaseOntology,110804,NA +GARD:0015751,OMIM,614069,Exact +GARD:0015751,GeneticAlliance,8652,NA +GARD:0015751,UMLS,C3279748,NA +GARD:0015751,DiseaseOntology,90009,NA +GARD:0015752,OMIM,614079,Exact +GARD:0015752,UMLS,C3279774,NA +GARD:0015753,OMIM,614082,Exact +GARD:0015753,GeneticAlliance,8414,NA +GARD:0015753,DiseaseOntology,111086,NA +GARD:0015753,UMLS,C3469527,NA +GARD:0015754,OMIM,614083,Exact +GARD:0015754,UMLS,C3469528,NA +GARD:0015754,DiseaseOntology,111082,NA +GARD:0015754,GeneticAlliance,8417,NA +GARD:0015754,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/fanconi-anemia,NA +GARD:0015755,OMIM,614089,Exact +GARD:0015755,UMLS,C3279790,NA +GARD:0015755,GeneticAlliance,7740,NA +GARD:0015755,DiseaseOntology,110108,NA +GARD:0015756,OMIM,614091,Exact +GARD:0015756,DiseaseOntology,110090,NA +GARD:0015756,GeneticAlliance,9293,NA +GARD:0015756,UMLS,C4747658,NA +GARD:0015756,UMLS,C3279792,NA +GARD:0015757,OMIM,614099,Exact +GARD:0015757,DiseaseOntology,80805,NA +GARD:0015757,GeneticAlliance,8106,NA +GARD:0015757,UMLS,C3279807,NA +GARD:0015758,OMIM,614114,Exact +GARD:0015758,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/mosaic-variegated-aneuploidy-syndrome,NA +GARD:0015758,UMLS,C3279843,NA +GARD:0015758,DiseaseOntology,80142,NA +GARD:0015758,GeneticAlliance,8907,NA +GARD:0015759,OMIM,614120,Exact +GARD:0015759,GeneticAlliance,8571,NA +GARD:0015759,DiseaseOntology,111356,NA +GARD:0015759,UMLS,C3279899,NA +GARD:0015760,OMIM,614129,Exact +GARD:0015760,UMLS,C3808414,NA +GARD:0015760,DiseaseOntology,50857,NA +GARD:0015761,OMIM,614131,Exact +GARD:0015761,GeneticAlliance,8440,NA +GARD:0015761,DiseaseOntology,111131,NA +GARD:0015761,UMLS,C3279905,NA +GARD:0015762,OMIM,614149,Exact +GARD:0015762,UMLS,C3279947,NA +GARD:0015762,DiseaseOntology,80087,NA +GARD:0015763,OMIM,614165,Exact +GARD:0015763,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hereditary-paraganglioma-pheochromocytoma,NA +GARD:0015763,DiseaseOntology,50773,NA +GARD:0015763,GeneticAlliance,9075,NA +GARD:0015763,UMLS,C3279992,NA +GARD:0015764,OMIM,614170,Exact +GARD:0015764,DiseaseOntology,80729,NA +GARD:0015764,GeneticAlliance,7869,NA +GARD:0015764,UMLS,C3280011,NA +GARD:0015765,OMIM,614173,Exact +GARD:0015765,DiseaseOntology,110982,NA +GARD:0015765,UMLS,C3280031,NA +GARD:0015765,GeneticAlliance,8688,NA +GARD:0015766,OMIM,614180,Exact +GARD:0015766,DiseaseOntology,110373,NA +GARD:0015766,GeneticAlliance,9246,NA +GARD:0015766,UMLS,C3280041,NA +GARD:0015767,OMIM,614181,Exact +GARD:0015767,UMLS,C3280042,NA +GARD:0015767,DiseaseOntology,110380,NA +GARD:0015767,GeneticAlliance,9247,NA +GARD:0015768,OMIM,614185,Exact +GARD:0015768,UMLS,C3280054,NA +GARD:0015768,DiseaseOntology,111726,NA +GARD:0015768,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/geleophysic-dysplasia,NA +GARD:0015768,GeneticAlliance,8455,NA +GARD:0015769,OMIM,614190,Exact +GARD:0015769,UMLS,C3280094,NA +GARD:0015769,GeneticAlliance,9112,NA +GARD:0015769,DiseaseOntology,60280,NA +GARD:0015770,OMIM,614196,Exact +GARD:0015770,UMLS,C3280100,NA +GARD:0015770,GeneticAlliance,8990,NA +GARD:0015770,DiseaseOntology,80384,NA +GARD:0015771,OMIM,614198,Exact +GARD:0015771,DiseaseOntology,110682,NA +GARD:0015771,GeneticAlliance,8078,NA +GARD:0015771,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/congenital-myasthenic-syndrome,NA +GARD:0015771,UMLS,C3280112,NA +GARD:0015772,OMIM,614205,Exact +GARD:0015772,DiseaseOntology,60241,NA +GARD:0015772,UMLS,C3280146,NA +GARD:0015772,GeneticAlliance,9388,NA +GARD:0015772,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/3-m-syndrome,NA +GARD:0015773,OMIM,614209,Exact +GARD:0015773,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/meckel-syndrome,NA +GARD:0015773,GeneticAlliance,8798,NA +GARD:0015773,UMLS,C3280155,NA +GARD:0015774,OMIM,614213,Exact +GARD:0015774,GeneticAlliance,9002,NA +GARD:0015774,UMLS,C3280168,NA +GARD:0015774,DiseaseOntology,70147,NA +GARD:0015775,OMIM,614219,Exact +GARD:0015775,DiseaseOntology,60227,NA +GARD:0015775,GeneticAlliance,7632,NA +GARD:0015775,UMLS,C3280182,NA +GARD:0015776,OMIM,614220,Exact +GARD:0015776,DiseaseOntology,12236,NA +GARD:0015776,UMLS,C3280201,NA +GARD:0015777,OMIM,614221,Exact +GARD:0015777,DiseaseOntology,12236,NA +GARD:0015777,UMLS,C3280202,NA +GARD:0015778,OMIM,614222,Exact +GARD:0015778,DiseaseOntology,110718,NA +GARD:0015778,UMLS,C3280203,NA +GARD:0015778,GeneticAlliance,9468,NA +GARD:0015779,OMIM,614223,Exact +GARD:0015779,UMLS,C3280204,NA +GARD:0015779,DiseaseOntology,8986,NA +GARD:0015780,OMIM,614225,Exact +GARD:0015780,UMLS,C3280214,NA +GARD:0015780,GeneticAlliance,9467,NA +GARD:0015780,DiseaseOntology,110717,NA +GARD:0015781,OMIM,614237,Exact +GARD:0015781,UMLS,C3280252,NA +GARD:0015781,DiseaseOntology,110706,NA +GARD:0015782,OMIM,614238,Exact +GARD:0015782,DiseaseOntology,110707,NA +GARD:0015782,UMLS,C3280253,NA +GARD:0015783,OMIM,614250,Exact +GARD:0015783,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/narcolepsy,NA +GARD:0015783,GeneticAlliance,8970,NA +GARD:0015783,UMLS,C3280266,NA +GARD:0015783,DiseaseOntology,8986,NA +GARD:0015784,OMIM,614280,Exact +GARD:0015784,DiseaseOntology,111328,NA +GARD:0015784,UMLS,C3280332,NA +GARD:0015784,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/juvenile-myoclonic-epilepsy,NA +GARD:0015785,OMIM,614291,Exact +GARD:0015785,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/ovarian-cancer,NA +GARD:0015785,UMLS,C3280345,NA +GARD:0015785,GeneticAlliance,7868,NA +GARD:0015786,OMIM,614305,Exact +GARD:0015786,DiseaseOntology,60757,NA +GARD:0015786,UMLS,C3280402,NA +GARD:0015786,GeneticAlliance,9271,NA +GARD:0015787,OMIM,614307,Exact +GARD:0015787,DiseaseOntology,60602,NA +GARD:0015787,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/alpha-methylacyl-coa-racemase-deficiency,NA +GARD:0015787,SNOMED-CT,700463002,NA +GARD:0015787,UMLS,C3280428,NA +GARD:0015787,GeneticAlliance,7670,NA +GARD:0015788,OMIM,614320,Exact +GARD:0015788,UMLS,C3280442,NA +GARD:0015788,GeneticAlliance,9071,NA +GARD:0015789,OMIM,614331,Exact +GARD:0015789,DiseaseOntology,70273,NA +GARD:0015789,UMLS,C1860896,NA +GARD:0015789,GeneticAlliance,8529,NA +GARD:0015790,OMIM,614335,Exact +GARD:0015790,DiseaseOntology,111598,NA +GARD:0015790,GeneticAlliance,8272,NA +GARD:0015790,UMLS,C3280526,NA +GARD:0015791,OMIM,614337,Exact +GARD:0015791,GeneticAlliance,8527,NA +GARD:0015791,UMLS,C1838333,NA +GARD:0015791,DiseaseOntology,70275,NA +GARD:0015792,OMIM,614350,Exact +GARD:0015792,GeneticAlliance,8528,NA +GARD:0015792,DiseaseOntology,70272,NA +GARD:0015792,UMLS,C1833477,NA +GARD:0015793,OMIM,614370,Exact +GARD:0015793,UMLS,C3280574,NA +GARD:0015793,DiseaseOntology,12120,NA +GARD:0015793,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/surfactant-dysfunction,NA +GARD:0015793,GeneticAlliance,9368,NA +GARD:0015794,OMIM,614373,Exact +GARD:0015794,DiseaseOntology,60207,NA +GARD:0015794,UMLS,C3280587,NA +GARD:0015794,GeneticAlliance,7687,NA +GARD:0015795,OMIM,614376,Exact +GARD:0015795,GeneticAlliance,7720,NA +GARD:0015795,UMLS,C3280598,NA +GARD:0015795,DiseaseOntology,110089,NA +GARD:0015796,OMIM,614378,Exact +GARD:0015796,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/cranioectodermal-dysplasia,NA +GARD:0015796,GeneticAlliance,8107,NA +GARD:0015796,UMLS,C3280616,NA +GARD:0015796,DiseaseOntology,80806,NA +GARD:0015797,OMIM,614379,Exact +GARD:0015797,DiseaseOntology,60298,NA +GARD:0015797,GeneticAlliance,8027,NA +GARD:0015797,UMLS,C3280641,NA +GARD:0015798,OMIM,614380,Exact +GARD:0015798,UMLS,C3280642,NA 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+GARD:0015805,OMIM,614441,Exact +GARD:0015805,GeneticAlliance,8607,NA +GARD:0015805,UMLS,C3280800,NA +GARD:0015806,OMIM,614464,Exact +GARD:0015806,UMLS,C3280897,NA +GARD:0015806,GeneticAlliance,8690,NA +GARD:0015806,DiseaseOntology,110984,NA +GARD:0015807,OMIM,614465,Exact +GARD:0015807,DiseaseOntology,110985,NA +GARD:0015807,GeneticAlliance,8691,NA +GARD:0015807,UMLS,C3280906,NA +GARD:0015808,OMIM,614483,Exact +GARD:0015808,GeneticAlliance,9137,NA +GARD:0015808,UMLS,C3280970,NA +GARD:0015808,DiseaseOntology,112314,NA +GARD:0015809,OMIM,614493,Exact +GARD:0015809,UMLS,C3281001,NA +GARD:0015809,GeneticAlliance,9478,NA +GARD:0015810,OMIM,614494,Exact +GARD:0015810,UMLS,C3281002,NA +GARD:0015810,DiseaseOntology,110385,NA +GARD:0015811,OMIM,614497,Exact +GARD:0015811,UMLS,C3281027,NA +GARD:0015811,GeneticAlliance,8883,NA +GARD:0015812,OMIM,614500,Exact +GARD:0015812,UMLS,C3281045,NA +GARD:0015812,UMLS,C3281046,NA +GARD:0015812,DiseaseOntology,111022,NA +GARD:0015812,GeneticAlliance,8043,NA +GARD:0015812,UMLS,C4049066,NA +GARD:0015813,OMIM,614504,Exact +GARD:0015813,DiseaseOntology,110842,NA +GARD:0015813,UMLS,C3281066,NA +GARD:0015813,GeneticAlliance,9440,NA +GARD:0015814,OMIM,614508,Exact +GARD:0015814,GeneticAlliance,8894,NA +GARD:0015814,UMLS,C3281089,NA +GARD:0015814,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/congenital-mirror-movement-disorder,NA +GARD:0015815,OMIM,614524,Exact +GARD:0015815,UMLS,C3281128,NA +GARD:0015815,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/fibrochondrogenesis,NA +GARD:0015815,GeneticAlliance,8429,NA +GARD:0015815,DiseaseOntology,80673,NA +GARD:0015816,OMIM,614565,Exact +GARD:0015816,DiseaseOntology,110869,NA +GARD:0015816,UMLS,C3281215,NA +GARD:0015816,GeneticAlliance,9015,NA +GARD:0015817,OMIM,614583,Exact +GARD:0015817,DiseaseOntology,60229,NA +GARD:0015817,UMLS,C3281235,NA +GARD:0015817,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome,NA +GARD:0015817,GeneticAlliance,7799,NA +GARD:0015818,OMIM,614594,Exact +GARD:0015818,DiseaseOntology,112013,NA +GARD:0015818,GeneticAlliance,5353,NA +GARD:0015818,UMLS,C5542829,NA +GARD:0015819,OMIM,614602,Exact +GARD:0015819,UMLS,C3281289,NA +GARD:0015819,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/trichohepatoenteric-syndrome,NA +GARD:0015819,GeneticAlliance,9424,NA +GARD:0015819,DiseaseOntology,111416,NA +GARD:0015820,OMIM,614607,Exact +GARD:0015820,DiseaseOntology,70044,NA +GARD:0015820,GeneticAlliance,8822,NA +GARD:0015820,UMLS,C3553247,NA +GARD:0015821,OMIM,614608,Exact +GARD:0015821,GeneticAlliance,8823,NA +GARD:0015821,DiseaseOntology,70045,NA +GARD:0015821,UMLS,C3553248,NA +GARD:0015822,OMIM,614609,Exact +GARD:0015822,GeneticAlliance,8824,NA +GARD:0015822,UMLS,C3553249,NA +GARD:0015822,DiseaseOntology,70046,NA +GARD:0015823,OMIM,614613,Exact +GARD:0015823,DiseaseOntology,14669,NA +GARD:0015823,GeneticAlliance,7627,NA +GARD:0015823,UMLS,C3553250,NA +GARD:0015824,OMIM,614615,Exact +GARD:0015824,GeneticAlliance,8692,NA +GARD:0015824,DiseaseOntology,110986,NA +GARD:0015824,UMLS,C3553264,NA +GARD:0015825,OMIM,614618,Exact +GARD:0015825,DiseaseOntology,60698,NA +GARD:0015825,GeneticAlliance,8586,NA +GARD:0015825,UMLS,C3553288,NA +GARD:0015826,OMIM,614619,Exact +GARD:0015826,UMLS,C3553291,NA +GARD:0015826,DiseaseOntology,60697,NA +GARD:0015826,GeneticAlliance,8585,NA +GARD:0015826,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hereditary-hyperekplexia,NA +GARD:0015827,OMIM,614621,Exact +GARD:0015827,UMLS,C3553298,NA +GARD:0015827,DiseaseOntology,60240,NA +GARD:0015827,GeneticAlliance,9442,NA +GARD:0015828,OMIM,614640,Exact +GARD:0015828,DiseaseOntology,60240,NA +GARD:0015828,GeneticAlliance,9443,NA +GARD:0015828,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/uv-sensitive-syndrome,NA +GARD:0015828,UMLS,C3553328,NA +GARD:0015829,OMIM,614643,Exact +GARD:0015829,DiseaseOntology,111234,NA +GARD:0015829,UMLS,C3553330,NA +GARD:0015829,GeneticAlliance,8931,NA +GARD:0015830,OMIM,614662,Exact +GARD:0015830,GeneticAlliance,8103,NA +GARD:0015830,DiseaseOntology,90140,NA +GARD:0015830,UMLS,C3553382,NA +GARD:0015831,OMIM,614669,Exact +GARD:0015831,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/auriculo-condylar-syndrome,NA +GARD:0015831,UMLS,C3553404,NA +GARD:0015832,OMIM,614672,Exact +GARD:0015832,DiseaseOntology,110441,NA +GARD:0015832,UMLS,C3553409,NA +GARD:0015833,OMIM,614673,Exact +GARD:0015833,DiseaseOntology,70282,NA +GARD:0015833,UMLS,C3553414,NA +GARD:0015834,OMIM,614678,Exact +GARD:0015834,DiseaseOntology,60266,NA +GARD:0015834,UMLS,C3553449,NA +GARD:0015835,OMIM,614679,Exact +GARD:0015835,UMLS,C3542550,NA +GARD:0015835,DiseaseOntology,110621,NA +GARD:0015836,OMIM,614699,Exact +GARD:0015836,DiseaseOntology,12177,NA +GARD:0015836,UMLS,C3542922,NA +GARD:0015837,OMIM,614701,Exact +GARD:0015837,DiseaseOntology,80508,NA +GARD:0015837,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/cornelia-de-lange-syndrome,NA +GARD:0015837,UMLS,C3553517,NA +GARD:0015838,OMIM,614714,Exact +GARD:0015838,UMLS,C3553549,NA +GARD:0015839,OMIM,614731,Exact +GARD:0015839,UMLS,C3539120,NA +GARD:0015840,OMIM,614736,Exact +GARD:0015840,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-glucocorticoid-deficiency,NA +GARD:0015840,UMLS,C3553587,NA +GARD:0015841,OMIM,614808,Exact +GARD:0015841,UMLS,C3553719,NA +GARD:0015841,DiseaseOntology,60209,NA +GARD:0015842,OMIM,614814,Exact +GARD:0015842,UMLS,C3553748,NA +GARD:0015842,DiseaseOntology,60227,NA +GARD:0015843,OMIM,614815,Exact +GARD:0015843,DiseaseOntology,110987,NA +GARD:0015843,UMLS,C3553758,NA +GARD:0015844,OMIM,614819,Exact +GARD:0015844,UMLS,C3553785,NA +GARD:0015844,DiseaseOntology,50475,NA +GARD:0015845,OMIM,614820,Exact +GARD:0015845,DiseaseOntology,50635,NA +GARD:0015845,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/alternating-hemiplegia-of-childhood,NA +GARD:0015845,UMLS,C3553788,NA +GARD:0015846,OMIM,614830,Exact +GARD:0015846,DiseaseOntology,111231,NA +GARD:0015846,UMLS,C3553813,NA +GARD:0015847,OMIM,614832,Exact +GARD:0015847,UMLS,C3553830,NA +GARD:0015847,DiseaseOntology,110062,NA +GARD:0015848,OMIM,614834,Exact +GARD:0015848,UMLS,C3553839,NA +GARD:0015849,OMIM,614837,Exact +GARD:0015849,UMLS,C3553841,NA +GARD:0015849,DiseaseOntology,90074,NA +GARD:0015850,OMIM,614838,Exact +GARD:0015850,UMLS,C3553842,NA +GARD:0015850,DiseaseOntology,90085,NA +GARD:0015851,OMIM,614840,Exact +GARD:0015851,DiseaseOntology,90071,NA +GARD:0015851,UMLS,C3553844,NA +GARD:0015852,OMIM,614845,Exact +GARD:0015852,DiseaseOntology,111123,NA +GARD:0015852,UMLS,C3541853,NA +GARD:0015853,OMIM,614849,Exact +GARD:0015853,UMLS,C3553868,NA +GARD:0015854,OMIM,614850,Exact +GARD:0015854,UMLS,C3553869,NA +GARD:0015855,OMIM,614852,Exact +GARD:0015855,UMLS,C3553886,NA +GARD:0015855,DiseaseOntology,70292,NA +GARD:0015856,OMIM,614856,Exact +GARD:0015856,UMLS,C3553887,NA +GARD:0015856,DiseaseOntology,110342,NA +GARD:0015857,OMIM,614858,Exact +GARD:0015857,UMLS,C3540450,NA +GARD:0015857,DiseaseOntology,90087,NA +GARD:0015858,OMIM,614859,Exact +GARD:0015858,DiseaseOntology,80478,NA +GARD:0015858,UMLS,C3553929,NA +GARD:0015858,UMLS,C1866340,NA +GARD:0015859,OMIM,614862,Exact +GARD:0015859,DiseaseOntology,80479,NA +GARD:0015859,UMLS,C1832230,NA +GARD:0015859,UMLS,C1832231,NA +GARD:0015859,UMLS,C1832232,NA +GARD:0015859,UMLS,C3553936,NA +GARD:0015860,OMIM,614863,Exact +GARD:0015860,UMLS,C3553937,NA +GARD:0015861,OMIM,614866,Exact +GARD:0015861,UMLS,C3553940,NA +GARD:0015861,UMLS,C3553942,NA +GARD:0015861,UMLS,C3539010,NA +GARD:0015861,UMLS,C3553941,NA +GARD:0015861,DiseaseOntology,80480,NA +GARD:0015862,OMIM,614867,Exact +GARD:0015862,UMLS,C3542026,NA +GARD:0015863,OMIM,614869,Exact +GARD:0015863,DiseaseOntology,110836,NA +GARD:0015863,UMLS,C3553944,NA +GARD:0015864,OMIM,614870,Exact +GARD:0015864,UMLS,C3553947,NA +GARD:0015864,DiseaseOntology,80481,NA +GARD:0015864,UMLS,C1864399,NA +GARD:0015865,OMIM,614871,Exact +GARD:0015865,UMLS,C3553948,NA +GARD:0015866,OMIM,614872,Exact +GARD:0015866,UMLS,C3888385,NA +GARD:0015866,UMLS,C3553950,NA +GARD:0015866,UMLS,C3539168,NA +GARD:0015866,DiseaseOntology,80482,NA +GARD:0015867,OMIM,614873,Exact +GARD:0015867,UMLS,C3553951,NA +GARD:0015868,OMIM,614874,Exact +GARD:0015868,UMLS,C3543825,NA +GARD:0015868,DiseaseOntology,110604,NA +GARD:0015869,OMIM,614876,Exact +GARD:0015869,UMLS,C1863999,NA +GARD:0015869,DiseaseOntology,80483,NA +GARD:0015869,UMLS,C1863998,NA +GARD:0015869,UMLS,C3553959,NA +GARD:0015870,OMIM,614877,Exact +GARD:0015870,UMLS,C3553960,NA +GARD:0015871,OMIM,614879,Exact +GARD:0015871,UMLS,C1866351,NA +GARD:0015871,UMLS,C2749346,NA +GARD:0015871,UMLS,C1866352,NA +GARD:0015872,OMIM,614880,Exact +GARD:0015872,UMLS,C3553977,NA +GARD:0015872,DiseaseOntology,90075,NA +GARD:0015873,OMIM,614882,Exact +GARD:0015873,UMLS,C3553999,NA +GARD:0015873,UMLS,C1864172,NA +GARD:0015873,UMLS,C1864171,NA +GARD:0015873,DiseaseOntology,80484,NA +GARD:0015874,OMIM,614883,Exact +GARD:0015874,UMLS,C1866259,NA +GARD:0015874,UMLS,C3554000,NA +GARD:0015874,UMLS,C1866260,NA +GARD:0015874,DiseaseOntology,80485,NA +GARD:0015875,OMIM,614885,Exact +GARD:0015875,UMLS,C3554001,NA +GARD:0015876,OMIM,614886,Exact +GARD:0015876,DiseaseOntology,80486,NA +GARD:0015876,UMLS,C3554002,NA +GARD:0015877,OMIM,614887,Exact +GARD:0015877,DiseaseOntology,80487,NA +GARD:0015877,UMLS,C3554004,NA +GARD:0015877,UMLS,C1866257,NA +GARD:0015878,OMIM,614897,Exact +GARD:0015878,UMLS,C3554021,NA +GARD:0015878,DiseaseOntology,90080,NA +GARD:0015879,OMIM,614900,Exact +GARD:0015879,UMLS,C3554042,NA +GARD:0015879,DiseaseOntology,111892,NA +GARD:0015880,OMIM,614916,Exact +GARD:0015880,UMLS,C3554047,NA +GARD:0015880,DiseaseOntology,60678,NA +GARD:0015881,OMIM,614920,Exact +GARD:0015881,UMLS,C3554055,NA +GARD:0015881,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/zellweger-spectrum-disorder,NA +GARD:0015882,OMIM,614926,Exact +GARD:0015882,DiseaseOntology,50857,NA +GARD:0015882,UMLS,C3554105,NA +GARD:0015883,OMIM,614935,Exact +GARD:0015883,UMLS,C3543826,NA +GARD:0015883,DiseaseOntology,110608,NA +GARD:0015884,OMIM,614936,Exact +GARD:0015884,DiseaseOntology,80214,NA +GARD:0015884,UMLS,C3554145,NA +GARD:0015885,OMIM,614941,Exact +GARD:0015885,UMLS,C3539920,NA +GARD:0015885,DiseaseOntology,111654,NA +GARD:0015885,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hypohidrotic-ectodermal-dysplasia,NA +GARD:0015886,OMIM,614959,Exact +GARD:0015886,DiseaseOntology,80439,NA +GARD:0015886,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/malignant-migrating-partial-seizures-of-infancy,NA +GARD:0015886,UMLS,C3554195,NA +GARD:0015887,OMIM,614970,Exact +GARD:0015887,UMLS,C3554235,NA +GARD:0015887,DiseaseOntology,110989,NA +GARD:0015888,OMIM,614972,Exact +GARD:0015888,UMLS,C3554241,NA +GARD:0015888,DiseaseOntology,70229,NA +GARD:0015889,OMIM,614976,Exact +GARD:0015889,UMLS,C3554247,NA +GARD:0015889,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/carpenter-syndrome,NA +GARD:0015889,DiseaseOntology,60234,NA +GARD:0015890,OMIM,614990,Exact +GARD:0015890,DiseaseOntology,110837,NA +GARD:0015890,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/usher-syndrome,NA +GARD:0015890,UMLS,C3539124,NA +GARD:0015891,OMIM,615005,Exact +GARD:0015891,UMLS,C3554306,NA +GARD:0015891,DiseaseOntology,60686,NA +GARD:0015892,OMIM,615006,Exact +GARD:0015892,DiseaseOntology,80414,NA +GARD:0015892,UMLS,C3554316,NA +GARD:0015893,OMIM,615007,Exact +GARD:0015893,DiseaseOntology,60230,NA +GARD:0015893,UMLS,C3554321,NA +GARD:0015894,OMIM,615010,Exact +GARD:0015894,UMLS,C3539013,NA +GARD:0015894,DiseaseOntology,50629,NA +GARD:0015895,OMIM,615022,Exact 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+GARD:0015950,OMIM,615360,Exact +GARD:0015950,DiseaseOntology,110217,NA +GARD:0015950,UMLS,C3715164,NA +GARD:0015951,OMIM,615361,Exact +GARD:0015951,DiseaseOntology,90108,NA +GARD:0015951,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/autosomal-dominant-hypocalcemia,NA +GARD:0015951,UMLS,C3809243,NA +GARD:0015952,OMIM,615373,Exact +GARD:0015952,UMLS,C3809288,NA +GARD:0015952,UMLS,C3809289,NA +GARD:0015953,OMIM,615374,Exact +GARD:0015953,DiseaseOntology,111024,NA +GARD:0015953,UMLS,C3809299,NA +GARD:0015954,OMIM,615377,Exact +GARD:0015954,DiseaseOntology,50650,NA +GARD:0015954,UMLS,C3809311,NA +GARD:0015955,OMIM,615378,Exact +GARD:0015955,DiseaseOntology,50650,NA +GARD:0015955,UMLS,C3809312,NA +GARD:0015956,OMIM,615396,Exact +GARD:0015956,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-dilated-cardiomyopathy,NA +GARD:0015956,UMLS,C3715165,NA +GARD:0015956,UMLS,C3809346,NA +GARD:0015956,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/left-ventricular-noncompaction,NA +GARD:0015957,OMIM,615397,Exact +GARD:0015957,UMLS,C3809352,NA +GARD:0015958,OMIM,615399,Exact +GARD:0015958,DiseaseOntology,60284,NA +GARD:0015958,UMLS,C3809369,NA +GARD:0015959,OMIM,615402,Exact +GARD:0015959,UMLS,C3809394,NA +GARD:0015959,DiseaseOntology,60304,NA +GARD:0015960,OMIM,615413,Exact +GARD:0015960,DiseaseOntology,70171,NA +GARD:0015960,UMLS,C3809427,NA +GARD:0015961,OMIM,615418,Exact +GARD:0015961,DiseaseOntology,80335,NA +GARD:0015961,UMLS,C3809443,NA +GARD:0015962,OMIM,615422,Exact +GARD:0015962,DiseaseOntology,111384,NA +GARD:0015962,UMLS,C3809468,NA +GARD:0015963,OMIM,615424,Exact +GARD:0015963,UMLS,C3809469,NA +GARD:0015963,DiseaseOntology,111386,NA +GARD:0015963,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/inclusion-body-myopathy-with-early-onset-paget-disease-and-frontotemporal-dementia,NA +GARD:0015964,OMIM,615426,Exact +GARD:0015964,DiseaseOntology,60211,NA +GARD:0015964,UMLS,C3715156,NA +GARD:0015965,OMIM,615434,Exact +GARD:0015965,DiseaseOntology,110419,NA +GARD:0015965,UMLS,C4747737,NA +GARD:0015966,OMIM,615436,Exact +GARD:0015966,UMLS,C3809513,NA +GARD:0015966,DiseaseOntology,14004,NA +GARD:0015966,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-thoracic-aortic-aneurysm-and-dissection,NA +GARD:0015967,OMIM,615441,Exact +GARD:0015967,UMLS,C3809536,NA +GARD:0015967,DiseaseOntology,60679,NA +GARD:0015968,OMIM,615444,Exact +GARD:0015968,DiseaseOntology,110597,NA +GARD:0015968,UMLS,C3809543,NA +GARD:0015969,OMIM,615451,Exact +GARD:0015969,DiseaseOntology,110609,NA +GARD:0015969,UMLS,C3809548,NA +GARD:0015970,OMIM,615453,Exact +GARD:0015970,DiseaseOntology,80115,NA +GARD:0015970,UMLS,C3809553,NA +GARD:0015970,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/mitochondrial-complex-iii-deficiency,NA +GARD:0015971,OMIM,615481,Exact +GARD:0015971,UMLS,C3809634,NA +GARD:0015971,DiseaseOntology,110628,NA +GARD:0015972,OMIM,615482,Exact +GARD:0015972,UMLS,C3809641,NA +GARD:0015972,DiseaseOntology,110615,NA +GARD:0015973,OMIM,615483,Exact +GARD:0015973,UMLS,C3809645,NA +GARD:0015973,DiseaseOntology,60230,NA +GARD:0015974,OMIM,615500,Exact +GARD:0015974,DiseaseOntology,110627,NA +GARD:0015974,UMLS,C3809684,NA +GARD:0015975,OMIM,615503,Exact +GARD:0015975,DiseaseOntology,110094,NA +GARD:0015975,UMLS,C3809691,NA +GARD:0015976,OMIM,615504,Exact +GARD:0015976,DiseaseOntology,110611,NA +GARD:0015976,UMLS,C3809701,NA +GARD:0015977,OMIM,615505,Exact +GARD:0015977,DiseaseOntology,110607,NA +GARD:0015977,UMLS,C3809706,NA +GARD:0015978,OMIM,615506,Exact +GARD:0015978,DiseaseOntology,1270,NA +GARD:0015978,UMLS,C3809710,NA +GARD:0015979,OMIM,615513,Exact +GARD:0015979,DiseaseOntology,111936,NA +GARD:0015979,SNOMED-CT,711480000,NA +GARD:0015979,UMLS,C3714976,NA +GARD:0015979,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/activated-pi3k-delta-syndrome,NA +GARD:0015980,OMIM,615515,Exact +GARD:0015980,DiseaseOntology,60210,NA +GARD:0015980,UMLS,C3715155,NA +GARD:0015981,OMIM,615527,Exact +GARD:0015981,UMLS,C3714992,NA +GARD:0015981,DiseaseOntology,2058,NA +GARD:0015982,OMIM,615539,Exact +GARD:0015982,DiseaseOntology,807,NA +GARD:0015982,UMLS,C3809845,NA +GARD:0015982,DiseaseOntology,737,NA +GARD:0015982,DiseaseOntology,350,NA +GARD:0015982,DiseaseOntology,080,NA +GARD:0015983,OMIM,615544,Exact +GARD:0015983,DiseaseOntology,50454,NA +GARD:0015983,UMLS,C3809872,NA +GARD:0015984,OMIM,615546,Exact +GARD:0015984,UMLS,C3809875,NA +GARD:0015984,DiseaseOntology,80586,NA +GARD:0015985,OMIM,615550,Exact +GARD:0015985,UMLS,C3809888,NA +GARD:0015985,DiseaseOntology,111882,NA +GARD:0015986,OMIM,615557,Exact +GARD:0015986,UMLS,C3809925,NA +GARD:0015987,OMIM,615559,Exact +GARD:0015987,DiseaseOntology,110119,NA +GARD:0015987,UMLS,C3809928,NA +GARD:0015988,OMIM,615565,Exact +GARD:0015988,DiseaseOntology,110359,NA +GARD:0015988,UMLS,C3809954,NA +GARD:0015989,OMIM,615573,Exact +GARD:0015989,UMLS,C3809965,NA +GARD:0015989,DiseaseOntology,80391,NA +GARD:0015990,OMIM,615577,Exact +GARD:0015990,DiseaseOntology,12177,NA +GARD:0015990,UMLS,C3809991,NA +GARD:0015991,OMIM,615605,Exact +GARD:0015991,UMLS,C3810100,NA +GARD:0015991,DiseaseOntology,80759,NA +GARD:0015992,OMIM,615619,Exact +GARD:0015992,UMLS,C3810156,NA +GARD:0015992,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/cholangiocarcinoma,NA +GARD:0015993,OMIM,615630,Exact +GARD:0015993,UMLS,C3810175,NA +GARD:0015993,DiseaseOntology,110091,NA +GARD:0015994,OMIM,615631,Exact +GARD:0015994,DiseaseOntology,111397,NA +GARD:0015994,UMLS,C3810185,NA +GARD:0015995,OMIM,615632,Exact +GARD:0015995,UMLS,C3810194,NA +GARD:0015995,DiseaseOntology,70154,NA +GARD:0015996,OMIM,615633,Exact +GARD:0015996,UMLS,C3810200,NA +GARD:0015996,DiseaseOntology,110095,NA +GARD:0015996,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy,NA +GARD:0015997,OMIM,615636,Exact +GARD:0015997,DiseaseOntology,110990,NA +GARD:0015997,UMLS,C3810212,NA +GARD:0015998,OMIM,615663,Exact +GARD:0015998,DiseaseOntology,110719,NA +GARD:0015998,UMLS,C3810265,NA +GARD:0015998,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/rab18-deficiency,NA +GARD:0015999,OMIM,615665,Exact +GARD:0015999,UMLS,C3810278,NA +GARD:0015999,DiseaseOntology,110991,NA +GARD:0016000,OMIM,615670,Exact +GARD:0016000,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/schwannomatosis,NA +GARD:0016000,DiseaseOntology,3204,NA +GARD:0016000,UMLS,C3810283,NA +GARD:0016001,OMIM,615674,Exact +GARD:0016001,UMLS,C3810286,NA +GARD:0016001,DiseaseOntology,60256,NA +GARD:0016002,OMIM,615696,Exact +GARD:0016002,UMLS,C3810313,NA +GARD:0016002,DiseaseOntology,60256,NA +GARD:0016002,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/dowling-degos-disease,NA +GARD:0016003,OMIM,615706,Exact +GARD:0016003,UMLS,C3810332,NA +GARD:0016004,OMIM,615725,Exact +GARD:0016004,UMLS,C3810380,NA +GARD:0016004,DiseaseOntology,110374,NA +GARD:0016005,OMIM,615726,Exact +GARD:0016005,UMLS,C3714948,NA +GARD:0016006,OMIM,615728,Exact +GARD:0016006,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/pachyonychia-congenita,NA +GARD:0016006,UMLS,C3714949,NA +GARD:0016007,OMIM,615731,Exact +GARD:0016007,DiseaseOntology,110929,NA +GARD:0016007,UMLS,C3810384,NA +GARD:0016008,OMIM,615744,Exact +GARD:0016008,DiseaseOntology,80431,NA +GARD:0016008,UMLS,C3810400,NA +GARD:0016009,OMIM,615752,Exact +GARD:0016009,UMLS,C3810405,NA +GARD:0016009,DiseaseOntology,80924,NA +GARD:0016010,OMIM,615770,Exact +GARD:0016010,UMLS,C4014269,NA +GARD:0016010,DiseaseOntology,50650,NA +GARD:0016011,OMIM,615780,Exact +GARD:0016011,UMLS,C4014312,NA +GARD:0016011,DiseaseOntology,110410,NA +GARD:0016012,OMIM,615785,Exact +GARD:0016012,UMLS,C4014321,NA +GARD:0016012,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/white-sponge-nevus,NA +GARD:0016012,DiseaseOntology,50448,NA +GARD:0016013,OMIM,615807,Exact +GARD:0016013,DiseaseOntology,70009,NA +GARD:0016013,UMLS,C3891452,NA +GARD:0016014,OMIM,615821,Exact +GARD:0016014,UMLS,C4014393,NA +GARD:0016015,OMIM,615824,Exact +GARD:0016015,UMLS,C4014408,NA +GARD:0016015,DiseaseOntology,80116,NA +GARD:0016016,OMIM,615830,Exact +GARD:0016016,UMLS,C4014425,NA +GARD:0016016,DiseaseOntology,60280,NA +GARD:0016017,OMIM,615833,Exact +GARD:0016017,UMLS,C4014430,NA +GARD:0016017,DiseaseOntology,80443,NA +GARD:0016018,OMIM,615838,Exact +GARD:0016018,UMLS,C4014440,NA +GARD:0016018,DiseaseOntology,80117,NA +GARD:0016019,OMIM,615841,Exact +GARD:0016019,UMLS,C4014449,NA +GARD:0016019,DiseaseOntology,70182,NA +GARD:0016020,OMIM,615842,Exact +GARD:0016020,UMLS,C4014454,NA +GARD:0016020,DiseaseOntology,70179,NA +GARD:0016021,OMIM,615846,Exact +GARD:0016021,UMLS,C3888244,NA +GARD:0016021,DiseaseOntology,50629,NA +GARD:0016021,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome,NA +GARD:0016022,OMIM,615860,Exact +GARD:0016022,UMLS,C4014501,NA +GARD:0016022,DiseaseOntology,111025,NA +GARD:0016023,OMIM,615866,Exact +GARD:0016023,DiseaseOntology,70057,NA +GARD:0016023,UMLS,C4014528,NA +GARD:0016024,OMIM,615871,Exact +GARD:0016024,DiseaseOntology,80429,NA +GARD:0016024,UMLS,C4014531,NA +GARD:0016025,OMIM,615872,Exact +GARD:0016025,DiseaseOntology,110600,NA +GARD:0016025,UMLS,C4014534,NA +GARD:0016026,OMIM,615883,Exact +GARD:0016026,DiseaseOntology,80686,NA +GARD:0016026,UMLS,C4014557,NA +GARD:0016027,OMIM,615885,Exact +GARD:0016027,DiseaseOntology,110709,NA +GARD:0016027,UMLS,C4014563,NA +GARD:0016028,OMIM,615887,Exact +GARD:0016028,UMLS,C4014578,NA +GARD:0016028,DiseaseOntology,110063,NA +GARD:0016029,OMIM,615896,Exact 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+GARD:0016037,OMIM,615990,Exact +GARD:0016037,DiseaseOntology,110135,NA +GARD:0016037,UMLS,C2673873,NA +GARD:0016038,OMIM,615991,Exact +GARD:0016038,DiseaseOntology,110136,NA +GARD:0016038,UMLS,C2673874,NA +GARD:0016039,OMIM,615992,Exact +GARD:0016039,DiseaseOntology,110137,NA +GARD:0016039,UMLS,C3150127,NA +GARD:0016040,OMIM,615993,Exact +GARD:0016040,UMLS,C3889474,NA +GARD:0016040,DiseaseOntology,110138,NA +GARD:0016041,OMIM,615994,Exact +GARD:0016041,UMLS,C3714980,NA +GARD:0016041,DiseaseOntology,110139,NA +GARD:0016042,OMIM,615995,Exact +GARD:0016042,UMLS,C3806174,NA +GARD:0016042,DiseaseOntology,110140,NA +GARD:0016043,OMIM,615996,Exact +GARD:0016043,UMLS,C3889475,NA +GARD:0016043,DiseaseOntology,110141,NA +GARD:0016044,OMIM,616001,Exact +GARD:0016044,UMLS,C4014918,NA +GARD:0016045,OMIM,616002,Exact +GARD:0016045,DiseaseOntology,111132,NA +GARD:0016045,UMLS,C4014925,NA +GARD:0016046,OMIM,616005,Exact +GARD:0016046,UMLS,C4014934,NA +GARD:0016046,DiseaseOntology,111949,NA +GARD:0016047,OMIM,616006,Exact +GARD:0016047,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hennekam-syndrome,NA +GARD:0016047,UMLS,C4014939,NA +GARD:0016047,DiseaseOntology,60366,NA +GARD:0016048,OMIM,616026,Exact +GARD:0016048,UMLS,C4014962,NA +GARD:0016048,DiseaseOntology,80760,NA +GARD:0016049,OMIM,616028,Exact +GARD:0016049,DiseaseOntology,60227,NA +GARD:0016049,UMLS,C4014970,NA +GARD:0016050,OMIM,616030,Exact +GARD:0016050,UMLS,C4014988,NA +GARD:0016050,DiseaseOntology,90081,NA +GARD:0016051,OMIM,616032,Exact +GARD:0016051,UMLS,C4014993,NA +GARD:0016051,DiseaseOntology,111133,NA +GARD:0016052,OMIM,616037,Exact +GARD:0016052,UMLS,C4015016,NA +GARD:0016052,DiseaseOntology,110624,NA +GARD:0016053,OMIM,616040,Exact +GARD:0016053,DiseaseOntology,110659,NA +GARD:0016053,UMLS,C4015038,NA +GARD:0016054,OMIM,616051,Exact +GARD:0016054,UMLS,C4015080,NA +GARD:0016054,DiseaseOntology,70283,NA +GARD:0016055,OMIM,616059,Exact +GARD:0016055,UMLS,C4015124,NA +GARD:0016056,OMIM,616063,Exact +GARD:0016056,UMLS,C4015128,NA +GARD:0016057,OMIM,616080,Exact +GARD:0016057,DiseaseOntology,70284,NA +GARD:0016057,UMLS,C4015156,NA +GARD:0016058,OMIM,616081,Exact +GARD:0016058,UMLS,C4015160,NA +GARD:0016058,DiseaseOntology,112334,NA +GARD:0016059,OMIM,616106,Exact +GARD:0016059,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/generalized-pustular-psoriasis,NA +GARD:0016059,DiseaseOntology,111281,NA +GARD:0016059,UMLS,C4015235,NA +GARD:0016060,OMIM,616111,Exact +GARD:0016060,DiseaseOntology,80118,NA +GARD:0016060,UMLS,C4015253,NA +GARD:0016061,OMIM,616115,Exact +GARD:0016061,UMLS,C4015276,NA +GARD:0016061,DiseaseOntology,90065,NA +GARD:0016062,OMIM,616138,Exact +GARD:0016062,UMLS,C4015307,NA +GARD:0016062,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/perrault-syndrome,NA +GARD:0016063,OMIM,616139,Exact +GARD:0016063,UMLS,C4015316,NA +GARD:0016063,DiseaseOntology,80444,NA +GARD:0016063,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/grin2b-related-neurodevelopmental-disorder,NA +GARD:0016064,OMIM,616151,Exact +GARD:0016064,UMLS,C4015342,NA +GARD:0016064,DiseaseOntology,50661,NA +GARD:0016065,OMIM,616152,Exact +GARD:0016065,DiseaseOntology,50661,NA +GARD:0016065,UMLS,C4015343,NA +GARD:0016066,OMIM,616165,Exact +GARD:0016066,UMLS,C4015360,NA +GARD:0016066,DiseaseOntology,110931,NA +GARD:0016066,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/nemaline-myopathy,NA +GARD:0016067,OMIM,616166,Exact +GARD:0016067,UMLS,C4015368,NA +GARD:0016068,OMIM,616208,Exact +GARD:0016068,UMLS,C4015512,NA +GARD:0016068,DiseaseOntology,60355,NA +GARD:0016069,OMIM,616211,Exact +GARD:0016069,DiseaseOntology,80452,NA +GARD:0016069,UMLS,C4015519,NA +GARD:0016070,OMIM,616220,Exact +GARD:0016070,DiseaseOntology,111134,NA +GARD:0016070,UMLS,C4015555,NA +GARD:0016071,OMIM,616221,Exact +GARD:0016071,DiseaseOntology,110064,NA +GARD:0016071,UMLS,C4015557,NA +GARD:0016072,OMIM,616229,Exact +GARD:0016072,UMLS,C4015610,NA +GARD:0016072,DiseaseOntology,110345,NA +GARD:0016073,OMIM,616247,Exact +GARD:0016073,DiseaseOntology,110655,NA +GARD:0016073,UMLS,C4015671,NA +GARD:0016074,OMIM,616249,Exact +GARD:0016074,UMLS,C4015695,NA +GARD:0016074,DiseaseOntology,110656,NA +GARD:0016075,Orphanet,562528,Exact +GARD:0016075,ICD-10,Q87.8,NTBT +GARD:0016075,OMIM,616266,Exact +GARD:0016076,OMIM,616270,Exact +GARD:0016076,DiseaseOntology,110065,NA +GARD:0016076,UMLS,C4225394,NA +GARD:0016077,OMIM,616294,Exact +GARD:0016077,UMLS,C4225382,NA +GARD:0016077,DiseaseOntology,60438,NA +GARD:0016078,OMIM,616298,Exact +GARD:0016078,UMLS,C4225380,NA +GARD:0016079,OMIM,616300,Exact +GARD:0016079,UMLS,C4225378,NA +GARD:0016079,DiseaseOntology,110093,NA +GARD:0016080,OMIM,616304,Exact +GARD:0016080,DiseaseOntology,110674,NA +GARD:0016080,UMLS,C4225377,NA +GARD:0016081,OMIM,616307,Exact +GARD:0016081,UMLS,C4225376,NA +GARD:0016082,OMIM,616311,Exact +GARD:0016082,DiseaseOntology,70063,NA +GARD:0016082,UMLS,C4225375,NA +GARD:0016083,OMIM,616314,Exact +GARD:0016083,UMLS,C4225373,NA +GARD:0016083,DiseaseOntology,110680,NA +GARD:0016084,OMIM,616321,Exact +GARD:0016084,UMLS,C4225372,NA +GARD:0016084,DiseaseOntology,110666,NA +GARD:0016085,OMIM,616322,Exact +GARD:0016085,UMLS,C4225371,NA +GARD:0016085,DiseaseOntology,110665,NA +GARD:0016086,OMIM,616323,Exact +GARD:0016086,DiseaseOntology,110664,NA +GARD:0016086,UMLS,C4225370,NA +GARD:0016087,OMIM,616324,Exact +GARD:0016087,DiseaseOntology,110677,NA +GARD:0016087,UMLS,C4225369,NA +GARD:0016088,OMIM,616325,Exact +GARD:0016088,UMLS,C4225368,NA +GARD:0016088,DiseaseOntology,110670,NA +GARD:0016089,OMIM,616326,Exact +GARD:0016089,DiseaseOntology,110675,NA +GARD:0016089,UMLS,C4225367,NA +GARD:0016090,OMIM,616329,Exact +GARD:0016090,UMLS,C4225365,NA +GARD:0016090,DiseaseOntology,111110,NA +GARD:0016091,OMIM,616330,Exact +GARD:0016091,UMLS,C4225364,NA +GARD:0016091,DiseaseOntology,110683,NA +GARD:0016092,OMIM,616339,Exact +GARD:0016092,UMLS,C4225361,NA +GARD:0016092,DiseaseOntology,80451,NA +GARD:0016093,OMIM,616341,Exact +GARD:0016093,DiseaseOntology,80465,NA +GARD:0016093,UMLS,C4225360,NA +GARD:0016094,OMIM,616346,Exact +GARD:0016094,DiseaseOntology,80437,NA +GARD:0016094,UMLS,C4225357,NA +GARD:0016095,OMIM,616353,Exact +GARD:0016095,UMLS,C4225356,NA +GARD:0016095,DiseaseOntology,70024,NA +GARD:0016096,OMIM,616366,Exact +GARD:0016096,UMLS,C4225350,NA +GARD:0016096,DiseaseOntology,80416,NA +GARD:0016097,OMIM,616371,Exact +GARD:0016097,UMLS,C4225347,NA +GARD:0016098,OMIM,616373,Exact +GARD:0016098,UMLS,C4225346,NA +GARD:0016099,OMIM,616389,Exact +GARD:0016099,DiseaseOntology,110714,NA +GARD:0016099,UMLS,C4225345,NA +GARD:0016100,OMIM,616390,Exact +GARD:0016100,UMLS,C4225344,NA +GARD:0016100,DiseaseOntology,111869,NA +GARD:0016101,OMIM,616394,Exact +GARD:0016101,UMLS,C4225342,NA +GARD:0016101,DiseaseOntology,110363,NA +GARD:0016102,OMIM,616395,Exact +GARD:0016102,DiseaseOntology,111871,NA +GARD:0016102,UMLS,C4017171,NA +GARD:0016103,OMIM,616398,Exact +GARD:0016103,UMLS,C4225341,NA +GARD:0016103,DiseaseOntology,90036,NA +GARD:0016104,OMIM,616399,Exact +GARD:0016104,UMLS,C4225340,NA +GARD:0016104,DiseaseOntology,110226,NA +GARD:0016105,OMIM,616402,Exact +GARD:0016105,DiseaseOntology,70279,NA +GARD:0016105,UMLS,C4225338,NA +GARD:0016106,OMIM,616409,Exact +GARD:0016106,DiseaseOntology,80463,NA +GARD:0016106,UMLS,C4225337,NA +GARD:0016107,OMIM,616413,Exact +GARD:0016107,UMLS,C4225335,NA +GARD:0016108,OMIM,616421,Exact +GARD:0016108,UMLS,C4085238,NA +GARD:0016109,OMIM,616425,Exact +GARD:0016109,DiseaseOntology,111775,NA +GARD:0016109,UMLS,C4225331,NA +GARD:0016110,OMIM,616428,Exact +GARD:0016110,UMLS,C4225330,NA +GARD:0016111,OMIM,616435,Exact +GARD:0016111,DiseaseOntology,111081,NA +GARD:0016111,UMLS,C4084840,NA +GARD:0016112,OMIM,616436,Exact +GARD:0016112,UMLS,C4225327,NA +GARD:0016112,DiseaseOntology,60751,NA +GARD:0016113,OMIM,616437,Exact +GARD:0016113,DiseaseOntology,110068,NA +GARD:0016113,UMLS,C4225326,NA +GARD:0016114,OMIM,616445,Exact +GARD:0016114,DiseaseOntology,2058,NA +GARD:0016114,UMLS,C4225324,NA +GARD:0016115,OMIM,616455,Exact +GARD:0016115,UMLS,C4225321,NA +GARD:0016116,OMIM,616461,Exact +GARD:0016116,DiseaseOntology,60754,NA +GARD:0016116,UMLS,C4225318,NA +GARD:0016117,OMIM,616462,Exact +GARD:0016117,DiseaseOntology,60353,NA +GARD:0016117,UMLS,C4225317,NA +GARD:0016118,OMIM,616468,Exact +GARD:0016118,DiseaseOntology,111410,NA +GARD:0016118,UMLS,C4225316,NA +GARD:0016119,OMIM,616469,Exact +GARD:0016119,DiseaseOntology,110395,NA +GARD:0016119,UMLS,C4225315,NA +GARD:0016120,OMIM,616470,Exact +GARD:0016120,UMLS,C4225314,NA +GARD:0016121,OMIM,616471,Exact +GARD:0016121,UMLS,C4225313,NA +GARD:0016122,OMIM,616481,Exact +GARD:0016122,DiseaseOntology,110603,NA +GARD:0016122,UMLS,C4225311,NA +GARD:0016123,OMIM,616486,Exact +GARD:0016123,UMLS,C4225310,NA +GARD:0016123,DiseaseOntology,70277,NA +GARD:0016124,OMIM,616490,Exact +GARD:0016124,DiseaseOntology,110992,NA +GARD:0016124,UMLS,C4084822,NA +GARD:0016125,OMIM,616502,Exact +GARD:0016125,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/cone-rod-dystrophy,NA +GARD:0016125,UMLS,C4049066,NA +GARD:0016126,OMIM,616507,Exact +GARD:0016126,UMLS,C4225301,NA +GARD:0016126,DiseaseOntology,110338,NA +GARD:0016127,OMIM,616509,Exact +GARD:0016127,UMLS,C4225300,NA +GARD:0016127,DiseaseOntology,110267,NA +GARD:0016128,OMIM,616511,Exact +GARD:0016128,UMLS,C4225299,NA +GARD:0016128,DiseaseOntology,111111,NA +GARD:0016129,OMIM,616517,Exact +GARD:0016129,UMLS,C4225297,NA +GARD:0016129,DiseaseOntology,110009,NA +GARD:0016130,OMIM,616531,Exact +GARD:0016130,UMLS,C4225295,NA +GARD:0016131,OMIM,616532,Exact +GARD:0016131,UMLS,C4225294,NA +GARD:0016132,OMIM,616534,Exact +GARD:0016132,UMLS,C4225293,NA +GARD:0016133,OMIM,616535,Exact +GARD:0016133,UMLS,C4225292,NA +GARD:0016134,OMIM,616538,Exact +GARD:0016134,DiseaseOntology,111232,NA +GARD:0016134,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/walker-warburg-syndrome,NA +GARD:0016134,UMLS,C4225291,NA +GARD:0016135,OMIM,616544,Exact +GARD:0016135,UMLS,C4225287,NA +GARD:0016135,DiseaseOntology,110389,NA +GARD:0016136,OMIM,616553,Exact +GARD:0016136,UMLS,C4225284,NA +GARD:0016136,DiseaseOntology,70023,NA +GARD:0016136,UMLS,C4225283,NA +GARD:0016137,OMIM,616559,Exact +GARD:0016137,DiseaseOntology,60587,NA +GARD:0016137,UMLS,C4225282,NA +GARD:0016138,OMIM,616562,Exact +GARD:0016138,UMLS,C4225281,NA +GARD:0016138,DiseaseOntology,110401,NA +GARD:0016139,OMIM,616564,Exact +GARD:0016139,DiseaseOntology,60588,NA +GARD:0016139,UMLS,C4225280,NA +GARD:0016139,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/noonan-syndrome,NA +GARD:0016140,OMIM,616570,Exact +GARD:0016140,DiseaseOntology,80913,NA +GARD:0016140,UMLS,C1851443,NA +GARD:0016141,OMIM,616576,Exact +GARD:0016141,UMLS,C4225277,NA +GARD:0016142,OMIM,616589,Exact +GARD:0016142,UMLS,C4225271,NA +GARD:0016142,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/adams-oliver-syndrome,NA +GARD:0016143,OMIM,616603,Exact +GARD:0016143,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/cutis-laxa,NA +GARD:0016143,UMLS,C4225268,NA +GARD:0016143,DiseaseOntology,70131,NA +GARD:0016144,OMIM,616617,Exact +GARD:0016144,DiseaseOntology,80624,NA +GARD:0016144,UMLS,C4225267,NA +GARD:0016145,OMIM,616629,Exact +GARD:0016145,UMLS,C4225263,NA +GARD:0016146,OMIM,616631,Exact +GARD:0016146,UMLS,C4225262,NA +GARD:0016147,OMIM,616645,Exact +GARD:0016147,UMLS,C4225257,NA +GARD:0016147,DiseaseOntology,80460,NA +GARD:0016148,OMIM,616648,Exact +GARD:0016148,DiseaseOntology,111439,NA +GARD:0016148,UMLS,C4085249,NA +GARD:0016149,OMIM,616649,Exact +GARD:0016149,DiseaseOntology,110917,NA +GARD:0016149,UMLS,C2674219,NA +GARD:0016150,OMIM,616654,Exact +GARD:0016150,UMLS,C4084841,NA +GARD:0016150,DiseaseOntology,110993,NA +GARD:0016151,OMIM,616681,Exact +GARD:0016151,DiseaseOntology,70289,NA +GARD:0016151,UMLS,C4225249,NA +GARD:0016152,OMIM,616689,Exact +GARD:0016152,DiseaseOntology,111577,NA +GARD:0016152,UMLS,C4225242,NA +GARD:0016153,OMIM,616720,Exact +GARD:0016153,DiseaseOntology,110673,NA +GARD:0016153,UMLS,C4225235,NA +GARD:0016154,OMIM,616726,Exact +GARD:0016154,DiseaseOntology,110619,NA +GARD:0016154,UMLS,C4225230,NA +GARD:0016155,OMIM,616730,Exact +GARD:0016155,DiseaseOntology,80385,NA +GARD:0016155,UMLS,C4225228,NA +GARD:0016156,OMIM,616734,Exact +GARD:0016156,UMLS,C4225225,NA +GARD:0016156,DiseaseOntology,112243,NA +GARD:0016157,OMIM,616760,Exact +GARD:0016157,DiseaseOntology,111574,NA +GARD:0016157,UMLS,C4225214,NA +GARD:0016158,OMIM,616777,Exact +GARD:0016158,UMLS,C4225212,NA +GARD:0016158,DiseaseOntology,70005,NA +GARD:0016159,OMIM,616781,Exact +GARD:0016159,UMLS,C4084842,NA +GARD:0016159,DiseaseOntology,110994,NA +GARD:0016160,OMIM,616784,Exact +GARD:0016160,UMLS,C4084843,NA +GARD:0016160,DiseaseOntology,110995,NA +GARD:0016161,OMIM,616792,Exact +GARD:0016161,UMLS,C4225207,NA +GARD:0016162,OMIM,616806,Exact +GARD:0016162,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/wilms-tumor,NA +GARD:0016162,UMLS,C3891301,NA +GARD:0016163,OMIM,616835,Exact +GARD:0016163,UMLS,C4225188,NA +GARD:0016163,DiseaseOntology,80517,NA +GARD:0016164,OMIM,616849,Exact +GARD:0016164,UMLS,C4225183,NA +GARD:0016164,DiseaseOntology,110978,NA +GARD:0016165,OMIM,616882,Exact +GARD:0016165,UMLS,C4225169,NA +GARD:0016165,DiseaseOntology,110013,NA +GARD:0016166,OMIM,616892,Exact +GARD:0016166,DiseaseOntology,80387,NA +GARD:0016166,UMLS,C4225166,NA +GARD:0016167,OMIM,616893,Exact +GARD:0016167,DiseaseOntology,80381,NA +GARD:0016167,UMLS,C4225165,NA +GARD:0016168,OMIM,616910,Exact +GARD:0016168,UMLS,C4310799,NA +GARD:0016168,DiseaseOntology,90010,NA +GARD:0016169,OMIM,616911,Exact +GARD:0016169,UMLS,C4310798,NA +GARD:0016169,DiseaseOntology,90011,NA +GARD:0016170,OMIM,616938,Exact +GARD:0016170,DiseaseOntology,112368,NA +GARD:0016170,UMLS,C4310788,NA +GARD:0016171,OMIM,616941,Exact +GARD:0016171,UMLS,C4310786,NA +GARD:0016172,OMIM,616943,Exact +GARD:0016172,UMLS,C4310785,NA +GARD:0016172,DiseaseOntology,111872,NA +GARD:0016173,OMIM,616950,Exact +GARD:0016173,DiseaseOntology,70172,NA +GARD:0016173,UMLS,C4310779,NA +GARD:0016174,OMIM,617004,Exact +GARD:0016174,UMLS,C4310769,NA +GARD:0016175,OMIM,617020,Exact +GARD:0016175,DiseaseOntology,80417,NA +GARD:0016175,UMLS,C4310762,NA +GARD:0016176,OMIM,617023,Exact +GARD:0016176,UMLS,C4310759,NA +GARD:0016176,DiseaseOntology,110361,NA +GARD:0016177,OMIM,617024,Exact +GARD:0016177,DiseaseOntology,110866,NA +GARD:0016177,UMLS,C4310758,NA +GARD:0016178,OMIM,617026,Exact +GARD:0016178,UMLS,C4310757,NA +GARD:0016178,DiseaseOntology,112329,NA +GARD:0016180,OMIM,617050,Exact +GARD:0016180,UMLS,C4310746,NA +GARD:0016181,OMIM,617063,Exact +GARD:0016181,UMLS,C4310738,NA +GARD:0016181,DiseaseOntology,80518,NA +GARD:0016182,OMIM,617065,Exact +GARD:0016182,UMLS,C4310737,NA +GARD:0016182,DiseaseOntology,80427,NA +GARD:0016183,OMIM,617069,Exact +GARD:0016183,UMLS,C4310734,NA +GARD:0016183,DiseaseOntology,111523,NA +GARD:0016184,OMIM,617075,Exact +GARD:0016184,UMLS,C4310729,NA +GARD:0016185,OMIM,617088,Exact +GARD:0016185,UMLS,C4310724,NA +GARD:0016186,OMIM,617090,Exact +GARD:0016186,UMLS,C4310723,NA +GARD:0016186,DiseaseOntology,70288,NA +GARD:0016187,OMIM,617091,Exact +GARD:0016187,UMLS,C4310722,NA +GARD:0016187,DiseaseOntology,110610,NA +GARD:0016188,OMIM,617092,Exact +GARD:0016188,DiseaseOntology,110620,NA +GARD:0016188,UMLS,C4310721,NA +GARD:0016189,OMIM,617102,Exact +GARD:0016189,UMLS,C4310718,NA +GARD:0016190,OMIM,617105,Exact +GARD:0016190,DiseaseOntology,80442,NA +GARD:0016190,UMLS,C4310717,NA +GARD:0016191,OMIM,617106,Exact +GARD:0016191,DiseaseOntology,80454,NA +GARD:0016191,UMLS,C4310716,NA +GARD:0016192,OMIM,617113,Exact +GARD:0016192,UMLS,C4310712,NA +GARD:0016192,DiseaseOntology,80447,NA +GARD:0016193,OMIM,617119,Exact +GARD:0016193,DiseaseOntology,81011,NA +GARD:0016193,UMLS,C5561936,NA +GARD:0016194,OMIM,617120,Exact +GARD:0016194,DiseaseOntology,110996,NA +GARD:0016194,UMLS,C4310706,NA +GARD:0016195,OMIM,617121,Exact +GARD:0016195,UMLS,C4310705,NA +GARD:0016195,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/joubert-syndrome,NA +GARD:0016195,DiseaseOntology,110997,NA +GARD:0016196,OMIM,617123,Exact +GARD:0016196,UMLS,C4310704,NA +GARD:0016197,OMIM,617127,Exact +GARD:0016197,UMLS,C4310701,NA +GARD:0016198,OMIM,617132,Exact +GARD:0016198,UMLS,C4310700,NA +GARD:0016198,DiseaseOntology,80424,NA +GARD:0016199,OMIM,617137,Exact +GARD:0016199,UMLS,C4310697,NA +GARD:0016199,DiseaseOntology,111787,NA +GARD:0016199,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/frontometaphyseal-dysplasia,NA +GARD:0016200,OMIM,617141,Exact +GARD:0016200,SNOMED-CT,253232000,NA +GARD:0016200,UMLS,C0344543,NA +GARD:0016201,OMIM,617142,Exact +GARD:0016201,UMLS,C4310695,NA +GARD:0016202,OMIM,617143,Exact +GARD:0016202,DiseaseOntology,110661,NA +GARD:0016202,UMLS,C4310694,NA +GARD:0016203,OMIM,617153,Exact +GARD:0016203,DiseaseOntology,80428,NA +GARD:0016203,UMLS,C4310691,NA +GARD:0016204,OMIM,617158,Exact +GARD:0016204,DiseaseOntology,80718,NA +GARD:0016204,UMLS,C5399975,NA +GARD:0016205,OMIM,617162,Exact +GARD:0016205,DiseaseOntology,80456,NA +GARD:0016205,UMLS,C4310687,NA +GARD:0016206,OMIM,617166,Exact +GARD:0016206,UMLS,C4310685,NA +GARD:0016206,DiseaseOntology,80425,NA +GARD:0016207,OMIM,617168,Exact +GARD:0016207,UMLS,C4284414,NA +GARD:0016208,OMIM,617169,Exact +GARD:0016208,DiseaseOntology,112104,NA +GARD:0016208,UMLS,C4310684,NA +GARD:0016209,OMIM,617174,Exact +GARD:0016209,UMLS,C4310681,NA +GARD:0016209,DiseaseOntology,80987,NA +GARD:0016210,OMIM,617201,Exact +GARD:0016210,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/periventricular-heterotopia,NA +GARD:0016210,UMLS,C4310669,NA +GARD:0016211,OMIM,617217,Exact +GARD:0016211,UMLS,C4310665,NA +GARD:0016211,DiseaseOntology,80960,NA +GARD:0016212,OMIM,617239,Exact +GARD:0016212,UMLS,C4310654,NA +GARD:0016212,DiseaseOntology,110672,NA +GARD:0016213,OMIM,617243,Exact +GARD:0016213,UMLS,C4310652,NA +GARD:0016213,DiseaseOntology,111080,NA +GARD:0016214,OMIM,617244,Exact +GARD:0016214,DiseaseOntology,111090,NA +GARD:0016214,UMLS,C4284093,NA +GARD:0016215,OMIM,617247,Exact +GARD:0016215,DiseaseOntology,111085,NA +GARD:0016215,UMLS,C4310651,NA +GARD:0016216,OMIM,617251,Exact +GARD:0016216,UMLS,C4310649,NA +GARD:0016217,OMIM,617252,Exact +GARD:0016217,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/uncombable-hair-syndrome,NA +GARD:0016217,UMLS,C4310648,NA +GARD:0016218,OMIM,617276,Exact +GARD:0016218,UMLS,C4310637,NA +GARD:0016218,DiseaseOntology,80448,NA +GARD:0016219,OMIM,617280,Exact +GARD:0016219,UMLS,C4310636,NA +GARD:0016219,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-atrial-fibrillation,NA +GARD:0016220,OMIM,617297,Exact +GARD:0016220,UMLS,C4310630,NA +GARD:0016220,DiseaseOntology,80953,NA +GARD:0016221,OMIM,617304,Exact +GARD:0016221,UMLS,C4310626,NA +GARD:0016221,DiseaseOntology,80350,NA +GARD:0016222,OMIM,617336,Exact +GARD:0016222,DiseaseOntology,110933,NA +GARD:0016222,UMLS,C4479186,NA +GARD:0016223,OMIM,617350,Exact +GARD:0016223,UMLS,C4479236,NA +GARD:0016223,DiseaseOntology,80455,NA +GARD:0016224,OMIM,617389,Exact +GARD:0016224,UMLS,C4479313,NA +GARD:0016224,DiseaseOntology,80464,NA +GARD:0016225,OMIM,617391,Exact +GARD:0016225,UMLS,C4479319,NA +GARD:0016225,DiseaseOntology,80418,NA +GARD:0016226,OMIM,617406,Exact +GARD:0016226,DiseaseOntology,81010,NA +GARD:0016226,UMLS,C4319932,NA +GARD:0016227,OMIM,617408,Exact +GARD:0016227,UMLS,C4479424,NA +GARD:0016227,DiseaseOntology,111893,NA +GARD:0016228,OMIM,617409,Exact +GARD:0016228,DiseaseOntology,111880,NA +GARD:0016228,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia,NA +GARD:0016228,UMLS,C4479428,NA +GARD:0016229,OMIM,617433,Exact +GARD:0016229,UMLS,C4479481,NA +GARD:0016230,OMIM,617443,Exact +GARD:0016230,UMLS,C4479515,NA +GARD:0016231,OMIM,617460,Exact +GARD:0016231,UMLS,C4479526,NA +GARD:0016232,OMIM,617493,Exact +GARD:0016232,UMLS,C4479569,NA +GARD:0016232,DiseaseOntology,112276,NA +GARD:0016233,OMIM,617520,Exact +GARD:0016233,DiseaseOntology,70295,NA +GARD:0016233,UMLS,C4479608,NA +GARD:0016234,OMIM,617542,Exact +GARD:0016234,UMLS,C4479640,NA +GARD:0016235,OMIM,617561,Exact +GARD:0016235,UMLS,C4479654,NA +GARD:0016236,OMIM,617562,Exact +GARD:0016236,DiseaseOntology,80253,NA +GARD:0016236,UMLS,C4539715,NA +GARD:0016236,UMLS,C4539714,NA +GARD:0016237,OMIM,617565,Exact +GARD:0016237,UMLS,C4479656,NA +GARD:0016237,DiseaseOntology,80256,NA +GARD:0016238,OMIM,617572,Exact +GARD:0016238,DiseaseOntology,80264,NA +GARD:0016238,UMLS,C4539767,NA +GARD:0016239,OMIM,617577,Exact +GARD:0016239,UMLS,C4539798,NA +GARD:0016239,DiseaseOntology,80266,NA +GARD:0016240,OMIM,617598,Exact +GARD:0016240,DiseaseOntology,80689,NA +GARD:0016240,UMLS,C4539839,NA +GARD:0016241,OMIM,617599,Exact +GARD:0016241,UMLS,C4539843,NA +GARD:0016241,DiseaseOntology,80283,NA +GARD:0016242,OMIM,617610,Exact +GARD:0016242,DiseaseOntology,80273,NA +GARD:0016242,UMLS,C4539903,NA +GARD:0016243,OMIM,617622,Exact +GARD:0016243,DiseaseOntology,80275,NA +GARD:0016243,UMLS,C4539937,NA +GARD:0016244,OMIM,617681,Exact +GARD:0016244,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/blepharocheilodontic-syndrome,NA +GARD:0016244,DiseaseOntology,80346,NA +GARD:0016244,UMLS,C4540127,NA +GARD:0016245,OMIM,617706,Exact +GARD:0016245,DiseaseOntology,70177,NA +GARD:0016245,UMLS,C4540179,NA +GARD:0016246,OMIM,617707,Exact +GARD:0016246,UMLS,C4540185,NA +GARD:0016246,DiseaseOntology,70181,NA +GARD:0016247,OMIM,617729,Exact +GARD:0016247,UMLS,C4540266,NA +GARD:0016247,DiseaseOntology,80245,NA +GARD:0016248,OMIM,617730,Exact +GARD:0016248,UMLS,C4540270,NA +GARD:0016248,DiseaseOntology,80246,NA +GARD:0016249,OMIM,617731,Exact +GARD:0016249,DiseaseOntology,80247,NA +GARD:0016249,UMLS,C4540274,NA +GARD:0016250,OMIM,617760,Exact +GARD:0016250,DiseaseOntology,111221,NA +GARD:0016250,UMLS,C4540345,NA +GARD:0016251,OMIM,617761,Exact +GARD:0016251,UMLS,C4540355,NA +GARD:0016251,DiseaseOntology,80277,NA +GARD:0016252,OMIM,617781,Exact +GARD:0016252,UMLS,C4540439,NA +GARD:0016253,OMIM,617800,Exact +GARD:0016253,UMLS,C4540488,NA +GARD:0016253,DiseaseOntology,70281,NA +GARD:0016254,OMIM,617808,Exact +GARD:0016254,UMLS,C4540499,NA +GARD:0016254,DiseaseOntology,80297,NA +GARD:0016255,OMIM,617809,Exact +GARD:0016255,DiseaseOntology,111727,NA +GARD:0016255,UMLS,C4540511,NA +GARD:0016256,OMIM,617821,Exact +GARD:0016256,DiseaseOntology,80728,NA +GARD:0016256,UMLS,C1851801,NA +GARD:0016257,OMIM,617825,Exact +GARD:0016257,UMLS,C4540522,NA +GARD:0016258,OMIM,617829,Exact +GARD:0016258,UMLS,C4693362,NA +GARD:0016258,DiseaseOntology,80471,NA +GARD:0016259,OMIM,617830,Exact +GARD:0016259,DiseaseOntology,80285,NA +GARD:0016259,UMLS,C4693367,NA +GARD:0016260,OMIM,617831,Exact +GARD:0016260,UMLS,C4693371,NA +GARD:0016260,DiseaseOntology,80227,NA +GARD:0016261,OMIM,617836,Exact +GARD:0016261,UMLS,C4693376,NA +GARD:0016261,DiseaseOntology,80473,NA +GARD:0016262,OMIM,617839,Exact +GARD:0016262,DiseaseOntology,80225,NA +GARD:0016262,UMLS,C4693381,NA +GARD:0016263,OMIM,609265,Exact +GARD:0016263,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/li-fraumeni-syndrome,NA +GARD:0016263,DiseaseOntology,111504,NA +GARD:0016263,GeneticAlliance,8746,NA +GARD:0016263,UMLS,C1836482,NA +GARD:0016264,OMIM,617883,Exact +GARD:0016264,UMLS,C4554406,NA +GARD:0016265,OMIM,617892,Exact +GARD:0016265,UMLS,C4693523,NA +GARD:0016266,OMIM,617899,Exact +GARD:0016266,UMLS,C4693535,NA +GARD:0016266,DiseaseOntology,80296,NA +GARD:0016267,OMIM,617900,Exact +GARD:0016267,UMLS,C4693542,NA +GARD:0016268,OMIM,617914,Exact +GARD:0016268,UMLS,C4693572,NA +GARD:0016269,OMIM,617924,Exact +GARD:0016269,UMLS,C4693613,NA +GARD:0016269,DiseaseOntology,111325,NA +GARD:0016270,OMIM,617929,Exact +GARD:0016270,DiseaseOntology,80432,NA +GARD:0016270,UMLS,C4693663,NA +GARD:0016271,OMIM,617938,Exact +GARD:0016271,DiseaseOntology,80420,NA +GARD:0016271,UMLS,C4693699,NA +GARD:0016272,OMIM,617941,Exact +GARD:0016272,UMLS,C4693704,NA +GARD:0016273,OMIM,617948,Exact +GARD:0016273,UMLS,C1866810,NA +GARD:0016274,OMIM,617960,Exact +GARD:0016274,UMLS,C4693765,NA +GARD:0016274,DiseaseOntology,111920,NA +GARD:0016275,OMIM,617970,Exact +GARD:0016275,UMLS,C4693796,NA +GARD:0016276,OMIM,617971,Exact +GARD:0016276,UMLS,C1840779,NA +GARD:0016277,OMIM,617973,Exact +GARD:0016277,UMLS,C4693798,NA +GARD:0016278,OMIM,617983,Exact +GARD:0016278,UMLS,C4693831,NA +GARD:0016279,OMIM,617984,Exact +GARD:0016279,UMLS,C4693834,NA +GARD:0016280,OMIM,617985,Exact +GARD:0016280,UMLS,C4693843,NA +GARD:0016281,OMIM,617993,Exact +GARD:0016281,UMLS,C4693863,NA +GARD:0016282,OMIM,617994,Exact +GARD:0016282,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hyperphosphatemic-familial-tumoral-calcinosis,NA +GARD:0016282,UMLS,C4693864,NA +GARD:0016283,OMIM,618008,Exact +GARD:0016283,DiseaseOntology,80430,NA +GARD:0016283,UMLS,C4693925,NA +GARD:0016284,OMIM,618011,Exact +GARD:0016284,UMLS,C4693933,NA +GARD:0016285,OMIM,618012,Exact +GARD:0016285,UMLS,C4693934,NA +GARD:0016285,DiseaseOntology,112275,NA +GARD:0016286,OMIM,618021,Exact +GARD:0016286,DiseaseOntology,112193,NA +GARD:0016286,UMLS,C4747923,NA +GARD:0016287,OMIM,618027,Exact +GARD:0016287,DiseaseOntology,112369,NA +GARD:0016287,UMLS,C4747954,NA +GARD:0016288,OMIM,618063,Exact +GARD:0016288,DiseaseOntology,111852,NA +GARD:0016288,UMLS,C4748052,NA +GARD:0016289,OMIM,618065,Exact +GARD:0016289,DiseaseOntology,112323,NA +GARD:0016289,UMLS,C4748058,NA +GARD:0016290,OMIM,618086,Exact +GARD:0016290,DiseaseOntology,111916,NA +GARD:0016290,UMLS,C4748117,NA +GARD:0016291,OMIM,618110,Exact +GARD:0016291,UMLS,C4748224,NA +GARD:0016291,DiseaseOntology,111913,NA +GARD:0016292,OMIM,618115,Exact +GARD:0016292,UMLS,C4748253,NA +GARD:0016292,DiseaseOntology,111925,NA +GARD:0016293,OMIM,618123,Exact +GARD:0016293,UMLS,C4748277,NA +GARD:0016294,OMIM,618135,Exact +GARD:0016294,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/limb-girdle-muscular-dystrophy,NA +GARD:0016294,UMLS,C4748320,NA +GARD:0016294,DiseaseOntology,112382,NA +GARD:0016295,OMIM,618141,Exact +GARD:0016295,UMLS,C4748341,NA +GARD:0016295,DiseaseOntology,112203,NA +GARD:0016296,OMIM,618154,Exact +GARD:0016296,UMLS,C4748408,NA +GARD:0016297,OMIM,618161,Exact +GARD:0016297,UMLS,C4748442,NA +GARD:0016298,OMIM,618173,Exact +GARD:0016298,DiseaseOntology,112140,NA +GARD:0016298,UMLS,C4748536,NA +GARD:0016299,OMIM,618176,Exact +GARD:0016299,UMLS,C4748545,NA +GARD:0016299,DiseaseOntology,80392,NA +GARD:0016300,OMIM,618177,Exact +GARD:0016300,UMLS,C4748549,NA +GARD:0016300,DiseaseOntology,80393,NA +GARD:0016301,OMIM,618178,Exact +GARD:0016301,DiseaseOntology,80394,NA +GARD:0016301,UMLS,C4748552,NA +GARD:0016302,OMIM,618179,Exact +GARD:0016302,UMLS,C4748555,NA +GARD:0016303,OMIM,618185,Exact +GARD:0016303,UMLS,C4748602,NA +GARD:0016304,OMIM,618188,Exact +GARD:0016304,UMLS,C1300287,NA +GARD:0016304,SNOMED-CT,389201004,NA +GARD:0016305,OMIM,618189,Exact +GARD:0016305,UMLS,C4748647,NA +GARD:0016306,OMIM,618195,Exact +GARD:0016306,UMLS,C4748658,NA +GARD:0016307,OMIM,618196,Exact +GARD:0016307,UMLS,C4748670,NA +GARD:0016308,OMIM,618197,Exact +GARD:0016308,UMLS,C4748678,NA +GARD:0016309,OMIM,618198,Exact +GARD:0016309,UMLS,C4748684,NA +GARD:0016310,OMIM,618201,Exact +GARD:0016310,UMLS,C4748688,NA +GARD:0016310,DiseaseOntology,112204,NA +GARD:0016311,OMIM,618220,Exact +GARD:0016311,DiseaseOntology,112141,NA +GARD:0016311,UMLS,C4748725,NA +GARD:0016312,OMIM,618222,Exact +GARD:0016312,UMLS,C4748737,NA +GARD:0016312,DiseaseOntology,112083,NA +GARD:0016313,OMIM,618224,Exact +GARD:0016313,UMLS,C4748752,NA +GARD:0016313,DiseaseOntology,112093,NA +GARD:0016314,OMIM,618225,Exact +GARD:0016314,UMLS,C4748753,NA +GARD:0016314,DiseaseOntology,112082,NA +GARD:0016315,OMIM,618226,Exact +GARD:0016315,DiseaseOntology,112068,NA +GARD:0016315,UMLS,C4748754,NA +GARD:0016316,OMIM,618228,Exact +GARD:0016316,UMLS,C4748759,NA +GARD:0016316,DiseaseOntology,112066,NA +GARD:0016317,OMIM,618229,Exact +GARD:0016317,UMLS,C4748760,NA +GARD:0016317,DiseaseOntology,112092,NA +GARD:0016318,OMIM,618230,Exact +GARD:0016318,UMLS,C4748766,NA +GARD:0016318,DiseaseOntology,112081,NA +GARD:0016319,OMIM,618232,Exact +GARD:0016319,DiseaseOntology,112073,NA +GARD:0016319,UMLS,C4748767,NA +GARD:0016320,OMIM,618233,Exact +GARD:0016320,UMLS,C4748768,NA +GARD:0016320,DiseaseOntology,112075,NA +GARD:0016321,OMIM,618234,Exact +GARD:0016321,DiseaseOntology,112089,NA +GARD:0016321,UMLS,C4748769,NA +GARD:0016322,OMIM,618236,Exact +GARD:0016322,UMLS,C4748777,NA +GARD:0016322,DiseaseOntology,112094,NA +GARD:0016323,OMIM,618237,Exact +GARD:0016323,UMLS,C4748778,NA +GARD:0016323,DiseaseOntology,112077,NA +GARD:0016324,OMIM,618238,Exact +GARD:0016324,DiseaseOntology,112096,NA +GARD:0016324,UMLS,C4748785,NA +GARD:0016325,OMIM,618240,Exact +GARD:0016325,DiseaseOntology,112070,NA +GARD:0016325,UMLS,C4748790,NA +GARD:0016326,OMIM,618241,Exact +GARD:0016326,UMLS,C4748791,NA +GARD:0016326,DiseaseOntology,112085,NA +GARD:0016327,OMIM,618242,Exact +GARD:0016327,UMLS,C4748792,NA +GARD:0016327,DiseaseOntology,112088,NA +GARD:0016328,OMIM,618245,Exact +GARD:0016328,UMLS,C4748803,NA +GARD:0016328,DiseaseOntology,112079,NA +GARD:0016329,OMIM,618246,Exact +GARD:0016329,UMLS,C4748806,NA +GARD:0016329,DiseaseOntology,112067,NA +GARD:0016330,OMIM,618250,Exact +GARD:0016330,UMLS,C4748830,NA +GARD:0016330,DiseaseOntology,112084,NA +GARD:0016331,OMIM,618251,Exact +GARD:0016331,DiseaseOntology,112071,NA +GARD:0016331,UMLS,C4748838,NA +GARD:0016332,OMIM,618253,Exact +GARD:0016332,UMLS,C4748840,NA +GARD:0016332,DiseaseOntology,112097,NA +GARD:0016333,OMIM,618264,Exact +GARD:0016333,UMLS,C4748869,NA +GARD:0016334,OMIM,618267,Exact +GARD:0016334,UMLS,C4748876,NA +GARD:0016335,OMIM,618275,Exact +GARD:0016335,DiseaseOntology,80582,NA +GARD:0016335,UMLS,C4748930,NA +GARD:0016336,OMIM,618298,Exact +GARD:0016336,DiseaseOntology,112206,NA +GARD:0016336,UMLS,C4749023,NA +GARD:0016337,OMIM,618309,Exact +GARD:0016337,UMLS,C4749043,NA +GARD:0016338,OMIM,618310,Exact +GARD:0016338,UMLS,C5193020,NA +GARD:0016338,DiseaseOntology,111896,NA +GARD:0016339,OMIM,618312,Exact +GARD:0016339,UMLS,C5193021,NA +GARD:0016339,DiseaseOntology,111886,NA +GARD:0016340,OMIM,618313,Exact +GARD:0016340,UMLS,C5193022,NA +GARD:0016340,DiseaseOntology,111891,NA +GARD:0016341,OMIM,618323,Exact +GARD:0016341,UMLS,C5193027,NA +GARD:0016342,OMIM,618345,Exact +GARD:0016342,UMLS,C5193041,NA +GARD:0016342,DiseaseOntology,112142,NA +GARD:0016343,OMIM,618347,Exact +GARD:0016343,UMLS,C5193043,NA +GARD:0016344,OMIM,618348,Exact +GARD:0016344,UMLS,C5193044,NA +GARD:0016345,OMIM,618349,Exact +GARD:0016345,UMLS,C5193045,NA +GARD:0016346,OMIM,618351,Exact +GARD:0016346,UMLS,C5193046,NA +GARD:0016347,OMIM,618362,Exact +GARD:0016347,UMLS,C5193054,NA +GARD:0016347,DiseaseOntology,112367,NA +GARD:0016348,OMIM,618395,Exact +GARD:0016348,UMLS,C5193073,NA +GARD:0016348,DiseaseOntology,112200,NA +GARD:0016349,OMIM,618396,Exact +GARD:0016349,UMLS,C5193074,NA +GARD:0016349,DiseaseOntology,112210,NA +GARD:0016350,OMIM,618415,Exact +GARD:0016350,DiseaseOntology,70354,NA +GARD:0016350,UMLS,C5193082,NA +GARD:0016351,OMIM,618435,Exact +GARD:0016351,UMLS,C5193097,NA +GARD:0016351,DiseaseOntology,111601,NA +GARD:0016352,OMIM,618437,Exact +GARD:0016352,UMLS,C5193099,NA +GARD:0016352,DiseaseOntology,112211,NA +GARD:0016353,OMIM,618449,Exact +GARD:0016353,UMLS,C5193103,NA +GARD:0016353,DiseaseOntology,111858,NA +GARD:0016354,OMIM,618464,Exact +GARD:0016354,UMLS,C5193112,NA +GARD:0016355,OMIM,618468,Exact +GARD:0016355,UMLS,C5193113,NA +GARD:0016355,DiseaseOntology,112212,NA +GARD:0016356,OMIM,618475,Exact +GARD:0016356,UMLS,C5193116,NA +GARD:0016357,OMIM,618499,Exact +GARD:0016357,DiseaseOntology,112169,NA +GARD:0016357,UMLS,C5193130,NA +GARD:0016358,OMIM,618506,Exact +GARD:0016358,DiseaseOntology,112371,NA +GARD:0016358,UMLS,C4760583,NA +GARD:0016359,OMIM,618513,Exact +GARD:0016359,UMLS,C5193139,NA +GARD:0016360,OMIM,618534,Exact +GARD:0016360,DiseaseOntology,111980,NA +GARD:0016360,UMLS,C5231402,NA +GARD:0016361,OMIM,618535,Exact +GARD:0016361,UMLS,C5193145,NA +GARD:0016361,DiseaseOntology,111651,NA +GARD:0016362,OMIM,618546,Exact +GARD:0016362,UMLS,C5231403,NA +GARD:0016362,DiseaseOntology,111870,NA +GARD:0016363,OMIM,618548,Exact +GARD:0016363,DiseaseOntology,112213,NA +GARD:0016363,UMLS,C5231405,NA +GARD:0016364,OMIM,618555,Exact +GARD:0016364,UMLS,C5231408,NA +GARD:0016365,OMIM,618557,Exact +GARD:0016365,DiseaseOntology,112214,NA +GARD:0016365,UMLS,C5231409,NA +GARD:0016366,OMIM,618559,Exact +GARD:0016366,DiseaseOntology,112215,NA +GARD:0016366,UMLS,C5231410,NA +GARD:0016367,OMIM,618587,Exact +GARD:0016367,UMLS,C5231497,NA +GARD:0016368,OMIM,618613,Exact +GARD:0016368,UMLS,C5231428,NA +GARD:0016368,DiseaseOntology,112143,NA +GARD:0016369,OMIM,618624,Exact +GARD:0016369,DiseaseOntology,112170,NA +GARD:0016369,UMLS,C5231432,NA +GARD:0016370,OMIM,618632,Exact +GARD:0016370,UMLS,C5231434,NA +GARD:0016371,OMIM,618658,Exact +GARD:0016371,UMLS,C5231447,NA +GARD:0016372,OMIM,618666,Exact +GARD:0016372,UMLS,C5231453,NA +GARD:0016373,OMIM,618695,Exact +GARD:0016373,UMLS,C5231464,NA +GARD:0016373,DiseaseOntology,111855,NA +GARD:0016374,OMIM,618697,Exact +GARD:0016374,UMLS,C5231465,NA +GARD:0016374,DiseaseOntology,112144,NA +GARD:0016375,OMIM,618752,Exact +GARD:0016375,DiseaseOntology,112135,NA +GARD:0016375,UMLS,C5203411,NA +GARD:0016376,OMIM,618763,Exact +GARD:0016376,UMLS,C5231493,NA +GARD:0016377,OMIM,618775,Exact +GARD:0016377,UMLS,C5394051,NA +GARD:0016378,OMIM,618776,Exact +GARD:0016378,UMLS,C5394053,NA +GARD:0016378,DiseaseOntology,112091,NA +GARD:0016379,OMIM,618779,Exact +GARD:0016379,DiseaseOntology,112372,NA +GARD:0016379,UMLS,C5241442,NA +GARD:0016380,OMIM,618781,Exact +GARD:0016380,DiseaseOntology,111851,NA +GARD:0016380,UMLS,C5394063,NA +GARD:0016381,OMIM,618786,Exact +GARD:0016381,UMLS,C5394073,NA +GARD:0016382,OMIM,618795,Exact +GARD:0016382,SNOMED-CT,410502007,NA +GARD:0016382,UMLS,C3495559,NA +GARD:0016382,ICD-10-CM,M08.9,NA +GARD:0016382,ICD-10-CM,M08,NA +GARD:0016383,OMIM,618801,Exact +GARD:0016383,UMLS,C5394104,NA +GARD:0016383,DiseaseOntology,111857,NA +GARD:0016384,OMIM,618824,Exact +GARD:0016384,UMLS,C5394199,NA +GARD:0016385,OMIM,618826,Exact +GARD:0016385,UMLS,C5394208,NA +GARD:0016385,DiseaseOntology,112145,NA +GARD:0016386,OMIM,618840,Exact +GARD:0016386,UMLS,C5394241,NA +GARD:0016386,DiseaseOntology,80950,NA +GARD:0016387,OMIM,618841,Exact +GARD:0016387,UMLS,C5394246,NA +GARD:0016388,OMIM,618856,Exact +GARD:0016388,UMLS,C5394296,NA +GARD:0016388,UMLS,C5394597,NA +GARD:0016389,OMIM,618857,Exact +GARD:0016389,UMLS,C5394304,NA +GARD:0016389,UMLS,C5394303,NA +GARD:0016390,OMIM,618858,Exact +GARD:0016390,UMLS,C5394307,NA +GARD:0016391,OMIM,618910,Exact +GARD:0016391,DiseaseOntology,112220,NA +GARD:0016391,UMLS,C5394462,NA +GARD:0016392,OMIM,618913,Exact +GARD:0016392,DiseaseOntology,80761,NA +GARD:0016392,UMLS,C5394473,NA +GARD:0016393,OMIM,618916,Exact +GARD:0016393,UMLS,C5394501,NA +GARD:0016393,DiseaseOntology,112221,NA +GARD:0016394,OMIM,618918,Exact +GARD:0016394,UMLS,C5394503,NA +GARD:0016395,OMIM,618935,Exact +GARD:0016395,UMLS,C5394542,NA +GARD:0016396,OMIM,618939,Exact +GARD:0016396,DiseaseOntology,80792,NA +GARD:0016396,UMLS,C5394546,NA +GARD:0016397,OMIM,618940,Exact +GARD:0016397,UMLS,C5394548,NA +GARD:0016398,OMIM,618959,Exact +GARD:0016398,UMLS,C5394553,NA +GARD:0016398,DiseaseOntology,112222,NA +GARD:0016399,OMIM,618977,Exact +GARD:0016399,UMLS,C5436534,NA +GARD:0016399,DiseaseOntology,80840,NA +GARD:0016400,OMIM,618998,Exact +GARD:0016400,UMLS,C5436563,NA +GARD:0016401,OMIM,619003,Exact +GARD:0016401,UMLS,C5436576,NA +GARD:0016401,DiseaseOntology,112139,NA +GARD:0016402,OMIM,619016,Exact +GARD:0016402,UMLS,C5436607,NA +GARD:0016403,OMIM,619028,Exact +GARD:0016403,UMLS,C5436638,NA +GARD:0016403,DiseaseOntology,112138,NA +GARD:0016404,OMIM,619046,Exact +GARD:0016404,UMLS,C5436682,NA +GARD:0016405,OMIM,619048,Exact +GARD:0016405,UMLS,C5436683,NA +GARD:0016406,OMIM,619051,Exact +GARD:0016406,UMLS,C5436685,NA +GARD:0016407,OMIM,619052,Exact +GARD:0016407,UMLS,C5436689,NA +GARD:0016408,OMIM,619053,Exact +GARD:0016408,UMLS,C5436692,NA +GARD:0016409,OMIM,619054,Exact +GARD:0016409,UMLS,C5436694,NA +GARD:0016410,OMIM,619055,Exact +GARD:0016410,UMLS,C5436695,NA +GARD:0016411,OMIM,619058,Exact +GARD:0016411,UMLS,C5436710,NA +GARD:0016412,OMIM,619059,Exact +GARD:0016412,UMLS,C5436712,NA +GARD:0016413,OMIM,619060,Exact +GARD:0016413,UMLS,C5436714,NA +GARD:0016414,OMIM,619061,Exact +GARD:0016414,UMLS,C5436718,NA +GARD:0016415,OMIM,619062,Exact +GARD:0016415,UMLS,C5436720,NA +GARD:0016416,OMIM,619063,Exact +GARD:0016416,UMLS,C5436723,NA +GARD:0016417,OMIM,619064,Exact +GARD:0016417,UMLS,C5436726,NA +GARD:0016418,OMIM,619065,Exact +GARD:0016418,UMLS,C5436727,NA +GARD:0016419,OMIM,619087,Exact +GARD:0016419,DiseaseOntology,112161,NA +GARD:0016419,UMLS,C5436773,NA +GARD:0016420,OMIM,619108,Exact +GARD:0016420,UMLS,C5436823,NA +GARD:0016420,DiseaseOntology,112176,NA +GARD:0016421,OMIM,619110,Exact +GARD:0016421,UMLS,C5436834,NA +GARD:0016421,DiseaseOntology,112190,NA +GARD:0016422,OMIM,619111,Exact +GARD:0016422,UMLS,C5436837,NA +GARD:0016423,OMIM,619113,Exact +GARD:0016423,UMLS,C5436841,NA +GARD:0016424,OMIM,619124,Exact +GARD:0016424,UMLS,C5436853,NA +GARD:0016424,DiseaseOntology,112223,NA +GARD:0016425,OMIM,619133,Exact +GARD:0016425,UMLS,C5436882,NA +GARD:0016426,OMIM,619135,Exact +GARD:0016426,UMLS,C5436883,NA +GARD:0016427,OMIM,619141,Exact +GARD:0016427,UMLS,C5436884,NA +GARD:0016428,OMIM,619155,Exact +GARD:0016428,DiseaseOntology,112268,NA +GARD:0016428,UMLS,C5436909,NA +GARD:0016429,OMIM,619166,Exact +GARD:0016429,UMLS,C5436933,NA +GARD:0016430,OMIM,619167,Exact +GARD:0016430,UMLS,C5436934,NA +GARD:0016431,OMIM,619170,Exact +GARD:0016431,UMLS,C5436935,NA +GARD:0016432,OMIM,619179,Exact +GARD:0016432,UMLS,C5543048,NA +GARD:0016433,OMIM,619180,Exact +GARD:0016433,UMLS,C5543051,NA +GARD:0016434,OMIM,619185,Exact +GARD:0016434,UMLS,C5543064,NA +GARD:0016435,OMIM,619201,Exact +GARD:0016435,UMLS,C5543092,NA +GARD:0016435,DiseaseOntology,112266,NA +GARD:0016436,OMIM,619202,Exact +GARD:0016436,UMLS,C5543094,NA +GARD:0016436,DiseaseOntology,112270,NA +GARD:0016437,OMIM,619208,Exact +GARD:0016437,UMLS,C5543096,NA +GARD:0016438,OMIM,619224,Exact +GARD:0016438,UMLS,C5543176,NA +GARD:0016439,OMIM,619267,Exact +GARD:0016439,UMLS,C5543273,NA +GARD:0016440,OMIM,619272,Exact +GARD:0016440,UMLS,C5543281,NA +GARD:0016441,OMIM,619303,Exact +GARD:0016441,DiseaseOntology,112330,NA +GARD:0016441,UMLS,C5543328,NA +GARD:0016442,OMIM,619304,Exact +GARD:0016442,DiseaseOntology,112331,NA +GARD:0016442,UMLS,C5543331,NA +GARD:0016443,OMIM,619325,Exact +GARD:0016443,UMLS,C5444111,NA +GARD:0016443,DiseaseOntology,112370,NA +GARD:0016444,OMIM,619339,Exact +GARD:0016444,UMLS,C5543445,NA +GARD:0016445,OMIM,619340,Exact +GARD:0016445,UMLS,C5543446,NA +GARD:0016446,OMIM,619350,Exact +GARD:0016446,UMLS,C5543466,NA +GARD:0016447,OMIM,619351,Exact +GARD:0016447,UMLS,C5543476,NA +GARD:0016448,OMIM,619355,Exact +GARD:0016448,UMLS,C5543491,NA +GARD:0016449,OMIM,613093,Exact +GARD:0016449,GeneticAlliance,8036,NA +GARD:0016449,UMLS,C2751308,NA +GARD:0016449,UMLS,C2751309,NA +GARD:0016450,OMIM,158350,Exact +GARD:0016450,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/bannayan-riley-ruvalcaba-syndrome,NA +GARD:0016450,DiseaseOntology,50657,NA +GARD:0016450,SNOMED-CT,722859001,NA +GARD:0016450,UMLS,C0391826,NA +GARD:0016450,UMLS,C1834711,NA +GARD:0016450,UMLS,C1866376,NA +GARD:0016450,UMLS,C1959582,NA +GARD:0016450,SNOMED-CT,58037000,NA +GARD:0016450,UMLS,C0018553,NA +GARD:0016450,SNOMED-CT,128791005,NA +GARD:0016450,SNOMED-CT,67944007,NA +GARD:0016451,OMIM,251450,Exact +GARD:0016451,DiseaseOntology,60462,NA +GARD:0016451,SNOMED-CT,254099008,NA +GARD:0016451,GeneticAlliance,2215,NA +GARD:0016451,UMLS,C4012146,NA +GARD:0016451,UMLS,C0432242,NA +GARD:0016452,OMIM,278730,Exact +GARD:0016452,SNOMED-CT,68637004,NA +GARD:0016452,UMLS,C0268138,NA +GARD:0016452,DiseaseOntology,110845,NA +GARD:0016452,GeneticAlliance,9522,NA +GARD:0016453,OMIM,611944,Exact +GARD:0016453,DiseaseOntology,70211,NA +GARD:0016453,UMLS,C4747568,NA +GARD:0016454,OMIM,612580,Exact +GARD:0016454,DiseaseOntology,70033,NA +GARD:0016454,UMLS,C2675488,NA +GARD:0016454,GeneticAlliance,8826,NA +GARD:0016455,OMIM,612581,Exact +GARD:0016455,GeneticAlliance,8827,NA +GARD:0016455,DiseaseOntology,70034,NA +GARD:0016455,UMLS,C2675487,NA +GARD:0016456,OMIM,613480,Exact +GARD:0016456,DiseaseOntology,70208,NA +GARD:0016456,GeneticAlliance,8770,NA +GARD:0016456,UMLS,C4747646,NA +GARD:0016457,OMIM,613943,Exact +GARD:0016457,GeneticAlliance,8634,NA +GARD:0016457,UMLS,C3553029,NA +GARD:0016457,DiseaseOntology,60717,NA +GARD:0016458,OMIM,614113,Exact +GARD:0016458,GeneticAlliance,8825,NA +GARD:0016458,DiseaseOntology,70032,NA +GARD:0016458,UMLS,C3279842,NA +GARD:0016459,OMIM,614255,Exact +GARD:0016459,DiseaseOntology,70039,NA +GARD:0016459,UMLS,C5393830,NA +GARD:0016459,GeneticAlliance,8832,NA +GARD:0016460,OMIM,614256,Exact +GARD:0016460,UMLS,C3280284,NA +GARD:0016460,DiseaseOntology,70040,NA +GARD:0016460,GeneticAlliance,8818,NA +GARD:0016461,OMIM,614257,Exact +GARD:0016461,DiseaseOntology,70041,NA +GARD:0016461,GeneticAlliance,8819,NA +GARD:0016461,UMLS,C3280285,NA +GARD:0016462,OMIM,614563,Exact +GARD:0016462,GeneticAlliance,8821,NA +GARD:0016462,UMLS,C3281202,NA +GARD:0016462,DiseaseOntology,70043,NA +GARD:0016463,OMIM,615107,Exact +GARD:0016463,UMLS,C3554517,NA +GARD:0016463,DiseaseOntology,81000,NA +GARD:0016464,OMIM,615108,Exact +GARD:0016464,UMLS,C3554518,NA +GARD:0016464,DiseaseOntology,81001,NA +GARD:0016465,OMIM,615109,Exact +GARD:0016465,DiseaseOntology,81002,NA +GARD:0016465,UMLS,C3554519,NA +GARD:0016466,OMIM,615777,Exact +GARD:0016466,UMLS,C4014294,NA +GARD:0016466,DiseaseOntology,60462,NA +GARD:0016467,OMIM,615828,Exact +GARD:0016467,UMLS,C4014414,NA +GARD:0016467,DiseaseOntology,70054,NA +GARD:0016468,OMIM,615907,Exact +GARD:0016468,DiseaseOntology,70209,NA +GARD:0016468,UMLS,C4747769,NA +GARD:0016469,OMIM,616393,Exact +GARD:0016469,DiseaseOntology,70068,NA +GARD:0016469,UMLS,C4225343,NA +GARD:0016470,OMIM,616858,Exact +GARD:0016470,UMLS,C4225179,NA +GARD:0016470,DiseaseOntology,81003,NA +GARD:0016470,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/cowden-syndrome,NA +GARD:0016471,OMIM,617571,Exact +GARD:0016471,DiseaseOntology,80258,NA +GARD:0016471,UMLS,C4539754,NA +GARD:0016472,OMIM,617796,Exact +GARD:0016472,DiseaseOntology,80231,NA +GARD:0016472,UMLS,C4540478,NA +GARD:0016473,OMIM,617798,Exact +GARD:0016473,UMLS,C4540481,NA +GARD:0016473,DiseaseOntology,80228,NA +GARD:0016474,OMIM,617799,Exact +GARD:0016474,DiseaseOntology,80230,NA +GARD:0016474,UMLS,C4540484,NA +GARD:0016475,OMIM,618095,Exact +GARD:0016475,UMLS,C4748167,NA +GARD:0016476,OMIM,618106,Exact +GARD:0016476,UMLS,C4748195,NA +GARD:0016477,OMIM,618330,Exact +GARD:0016477,UMLS,C5193032,NA +GARD:0016478,OMIM,619188,Exact +GARD:0016478,UMLS,C5543067,NA +GARD:0016479,Orphanet,663,Exact +GARD:0016479,UMLS,C0162674,Exact +GARD:0016479,ICD-10,H49.4,Exact +GARD:0016479,ICD-11,9C82.0,NTBT +GARD:0016480,Orphanet,59181,Exact +GARD:0016480,ICD-10,H35.5,NTBT +GARD:0016480,OMIM,264420,BTNT +GARD:0016480,OMIM,136900,Exact +GARD:0016480,UMLS,C0339515,Exact +GARD:0016480,SNOMED-CT,193410003,NA +GARD:0016481,Orphanet,280183,Exact +GARD:0016481,ICD-10,E71.1,NTBT +GARD:0016481,OMIM,613646,Exact +GARD:0016481,SNOMED-CT,771444002,NA +GARD:0016482,Orphanet,91483,Exact +GARD:0016482,OMIM,602482,NTBT +GARD:0016482,ICD-10,Q13.8,NTBT +GARD:0016482,MedDRA,10059198,Exact +GARD:0016482,OMIM,137600,BTNT +GARD:0016482,OMIM,601631,NTBT +GARD:0016482,SNOMED-CT,47507006,NA +GARD:0016483,OMIM,618641,Exact +GARD:0016483,UMLS,C5231437,NA +GARD:0016484,Orphanet,98634,Exact +GARD:0016485,Orphanet,98978,Exact +GARD:0016485,OMIM,601631,NTBT +GARD:0016485,MedDRA,10058653,Exact +GARD:0016485,OMIM,602482,NTBT +GARD:0016485,ICD-10,Q15.0,NTBT +GARD:0016485,UMLS,C0266548,Exact +GARD:0016485,SNOMED-CT,204152008,NA +GARD:0016486,Orphanet,254892,Exact +GARD:0016486,OMIM,609283,BTNT +GARD:0016486,ICD-10,H49.4,NTBT +GARD:0016486,OMIM,610131,BTNT +GARD:0016486,OMIM,613077,BTNT +GARD:0016486,OMIM,157640,Exact +GARD:0016486,OMIM,609286,BTNT +GARD:0016486,SNOMED-CT,827115000,NA +GARD:0016487,Orphanet,329931,Exact +GARD:0016487,ICD-10,N03.5,NTBT +GARD:0016487,OMIM,614809,Exact +GARD:0016489,Orphanet,280133,Exact +GARD:0016489,UMLS,C3151071,Exact +GARD:0016489,ICD-10,D84.1,NTBT +GARD:0016489,OMIM,613779,Exact +GARD:0016489,SNOMED-CT,771443008,NA +GARD:0016490,Orphanet,156005,Exact +GARD:0016491,OMIM,100070,Exact +GARD:0016491,SNOMED-CT,233985008,NA +GARD:0016491,UMLS,C1853365,NA +GARD:0016491,DiseaseOntology,7693,NA +GARD:0016491,UMLS,C0162871,NA +GARD:0016491,GeneticAlliance,63,NA +GARD:0016492,OMIM,609782,Exact +GARD:0016492,DiseaseOntology,7693,NA +GARD:0016492,UMLS,C1853364,NA +GARD:0016493,OMIM,611891,Exact +GARD:0016493,DiseaseOntology,7693,NA +GARD:0016493,UMLS,C2678470,NA +GARD:0016494,OMIM,614375,Exact +GARD:0016494,DiseaseOntology,7693,NA +GARD:0016494,UMLS,C3280597,NA +GARD:0016495,OMIM,618388,Exact +GARD:0016495,UMLS,C4760576,NA +GARD:0016495,DiseaseOntology,111378,NA +GARD:0016496,OMIM,618389,Exact +GARD:0016496,DiseaseOntology,111376,NA +GARD:0016496,UMLS,C4760599,NA +GARD:0016497,OMIM,618393,Exact +GARD:0016497,UMLS,C4760578,NA +GARD:0016497,DiseaseOntology,111379,NA +GARD:0016498,OMIM,609283,Exact +GARD:0016498,UMLS,C1836460,NA +GARD:0016498,DiseaseOntology,111517,NA +GARD:0016498,GeneticAlliance,7783,NA +GARD:0016499,OMIM,609286,Exact +GARD:0016499,DiseaseOntology,111520,NA +GARD:0016499,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/progressive-external-ophthalmoplegia,NA +GARD:0016499,UMLS,C1836439,NA +GARD:0016499,GeneticAlliance,7784,NA +GARD:0016500,OMIM,610131,Exact +GARD:0016500,GeneticAlliance,7785,NA +GARD:0016500,UMLS,C1864668,NA +GARD:0016500,DiseaseOntology,111525,NA +GARD:0016501,OMIM,613077,Exact +GARD:0016501,GeneticAlliance,7786,NA +GARD:0016501,DiseaseOntology,111518,NA +GARD:0016501,UMLS,C2751319,NA +GARD:0016502,OMIM,166780,Exact +GARD:0016502,UMLS,C3714941,NA +GARD:0016502,GeneticAlliance,5498,NA +GARD:0016503,OMIM,615560,Exact +GARD:0016503,UMLS,C5442121,NA +GARD:0016504,OMIM,605751,Exact +GARD:0016504,UMLS,C1853995,NA +GARD:0016504,DiseaseOntology,60169,NA +GARD:0016505,OMIM,612627,Exact +GARD:0016505,DiseaseOntology,60169,NA +GARD:0016505,UMLS,C2675462,NA +GARD:0016506,OMIM,617080,Exact +GARD:0016506,UMLS,C4310728,NA +GARD:0016507,OMIM,602096,Exact +GARD:0016507,DiseaseOntology,110037,NA +GARD:0016507,UMLS,C1865868,NA +GARD:0016508,OMIM,605055,Exact +GARD:0016508,UMLS,C1857933,NA +GARD:0016509,OMIM,605526,Exact +GARD:0016509,UMLS,C1854187,NA +GARD:0016509,DiseaseOntology,110038,NA +GARD:0016510,OMIM,606187,Exact +GARD:0016510,DiseaseOntology,110039,NA +GARD:0016510,UMLS,C1853555,NA +GARD:0016511,OMIM,606889,Exact +GARD:0016511,DiseaseOntology,110040,NA +GARD:0016511,UMLS,C1847200,NA +GARD:0016512,OMIM,607116,Exact +GARD:0016512,DiseaseOntology,110041,NA +GARD:0016512,UMLS,C1846735,NA +GARD:0016513,OMIM,607822,Exact +GARD:0016513,UMLS,C1843013,NA +GARD:0016513,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/alzheimer-disease,NA +GARD:0016513,DiseaseOntology,110042,NA +GARD:0016514,OMIM,609636,Exact +GARD:0016514,DiseaseOntology,110043,NA +GARD:0016514,UMLS,C1864828,NA +GARD:0016515,OMIM,609790,Exact +GARD:0016515,UMLS,C1853360,NA +GARD:0016515,DiseaseOntology,110044,NA +GARD:0016516,OMIM,611073,Exact +GARD:0016516,UMLS,C1970209,NA +GARD:0016516,DiseaseOntology,110045,NA +GARD:0016517,OMIM,611152,Exact +GARD:0016517,DiseaseOntology,110046,NA +GARD:0016517,UMLS,C1970147,NA +GARD:0016518,OMIM,611154,Exact +GARD:0016518,UMLS,C1970144,NA +GARD:0016518,DiseaseOntology,110047,NA +GARD:0016519,OMIM,182230,Exact +GARD:0016519,UMLS,C0338503,NA +GARD:0016519,SNOMED-CT,7611002,NA +GARD:0016519,DiseaseOntology,60857,NA +GARD:0016519,GeneticAlliance,9284,NA +GARD:0016519,UMLS,C2750027,NA +GARD:0016519,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/septo-optic-dysplasia,NA +GARD:0016520,OMIM,613986,Exact +GARD:0016520,GeneticAlliance,9119,NA +GARD:0016520,DiseaseOntology,9406,NA +GARD:0016520,UMLS,C3151440,NA +GARD:0016521,OMIM,607745,Exact +GARD:0016521,UMLS,C1843140,NA +GARD:0016521,DiseaseOntology,60169,NA +GARD:0016521,GeneticAlliance,1891,NA +GARD:0016522,SNOMED-CT,398680004,NA +GARD:0016522,Orphanet,187,Exact +GARD:0016522,UMLS,C0175683,Exact +GARD:0016522,ICD-10,E72.2,NTBT +GARD:0016522,ICD-11,5C50.A3,Exact +GARD:0016522,MeSH,D020159,Exact +GARD:0016523,SNOMED-CT,7265005,NA +GARD:0016523,Orphanet,364,Exact +GARD:0016523,OMIM,232240,BTNT +GARD:0016523,OMIM,232220,BTNT +GARD:0016523,UMLS,C2919796,Exact +GARD:0016523,OMIM,232200,BTNT +GARD:0016523,MedDRA,10018464,Exact +GARD:0016523,ICD-10,E74.0,NTBT +GARD:0016523,UMLS,C0017920,Exact +GARD:0016524,Orphanet,79133,Exact +GARD:0016524,ICD-10,Q82.8,NTBT +GARD:0016524,MeSH,C536385,Exact +GARD:0016524,UMLS,C2936827,Exact +GARD:0016524,MeSH,C537068,Exact +GARD:0016524,OMIM,136500,Exact +GARD:0016524,UMLS,C1744559,Exact +GARD:0016526,Orphanet,205,Exact +GARD:0016526,ICD-11,5C58.00,Exact +GARD:0016526,UMLS,C0010324,Exact +GARD:0016526,MeSH,D003414,Exact +GARD:0016526,OMIM,218800,BTNT +GARD:0016526,MedDRA,10011386,Exact +GARD:0016526,ICD-10,E80.5,Exact +GARD:0016526,OMIM,606785,BTNT +GARD:0016526,SNOMED-CT,28259009,NA +GARD:0016527,Orphanet,301,Exact +GARD:0016527,OMIM,137800,NTBT +GARD:0016527,ICD-10,C71.7,NTBT +GARD:0016527,UMLS,C0014474,Exact +GARD:0016527,SNOMED-CT,254939008,NA +GARD:0016528,Orphanet,317,Exact +GARD:0016528,UMLS,C0265961,Exact +GARD:0016528,MedDRA,10049048,Exact +GARD:0016528,OMIM,617525,BTNT +GARD:0016528,OMIM,617526,BTNT +GARD:0016528,OMIM,133200,NTBT +GARD:0016528,SNOMED-CT,70041004,NA +GARD:0016528,OMIM,617524,BTNT +GARD:0016528,ICD-10,Q82.8,NTBT +GARD:0016529,Orphanet,391,Exact +GARD:0016529,ICD-10,C81.4,BTNT +GARD:0016529,ICD-10,C81.9,BTNT +GARD:0016529,OMIM,400021,BTNT +GARD:0016529,ICD-10,C81.3,BTNT +GARD:0016529,OMIM,236000,Exact +GARD:0016529,OMIM,300221,BTNT +GARD:0016529,ICD-10,C81.0,BTNT +GARD:0016529,ICD-10,C81.7,BTNT +GARD:0016529,ICD-10,C81.2,BTNT +GARD:0016529,ICD-10,C81.1,BTNT +GARD:0016529,SNOMED-CT,762690000,NA +GARD:0016530,Orphanet,416,Exact +GARD:0016530,UMLS,C0020501,Exact +GARD:0016530,OMIM,259900,BTNT +GARD:0016530,OMIM,260000,BTNT +GARD:0016530,MeSH,D006959,Exact +GARD:0016530,MedDRA,10020703,Exact +GARD:0016530,OMIM,613616,BTNT +GARD:0016530,UMLS,C0020500,Exact +GARD:0016530,ICD-10,E74.8,NTBT +GARD:0016530,SNOMED-CT,17901006,NA +GARD:0016531,Orphanet,422,Exact +GARD:0016531,OMIM,265400,BTNT +GARD:0016531,ICD-10,I27.0,Exact +GARD:0016531,OMIM,615344,BTNT +GARD:0016531,OMIM,615343,BTNT +GARD:0016531,OMIM,178600,Exact +GARD:0016531,OMIM,615342,BTNT +GARD:0016531,ICD-11,BB01.0,NTBT +GARD:0016532,SNOMED-CT,715343000,NA +GARD:0016532,Orphanet,427,Exact +GARD:0016532,ICD-10,E27.4,NTBT +GARD:0016532,OMIM,606984,BTNT +GARD:0016532,OMIM,610600,BTNT +GARD:0016532,OMIM,203400,BTNT +GARD:0016533,Orphanet,432,Exact +GARD:0016533,OMIM,612702,BTNT +GARD:0016533,OMIM,244200,BTNT +GARD:0016533,OMIM,614842,BTNT +GARD:0016533,OMIM,614840,BTNT +GARD:0016533,OMIM,615269,BTNT +GARD:0016533,OMIM,614880,BTNT +GARD:0016533,OMIM,612370,BTNT +GARD:0016533,OMIM,147950,NTBT +GARD:0016533,OMIM,615266,BTNT +GARD:0016533,OMIM,308700,BTNT +GARD:0016533,OMIM,614838,BTNT +GARD:0016533,OMIM,146110,BTNT +GARD:0016533,OMIM,614839,BTNT +GARD:0016533,OMIM,614837,BTNT +GARD:0016533,OMIM,610628,BTNT +GARD:0016533,OMIM,615270,BTNT +GARD:0016533,ICD-10,E23.0,NTBT +GARD:0016533,OMIM,614841,BTNT +GARD:0016533,OMIM,614858,BTNT +GARD:0016534,Orphanet,557,Exact +GARD:0016534,ICD-10,Q42.2,Exact +GARD:0016534,OMIM,207500,BTNT +GARD:0016534,OMIM,107100,Exact +GARD:0016534,ICD-10,Q42.1,Exact +GARD:0016534,OMIM,301800,BTNT +GARD:0016534,MeSH,C537771,Exact +GARD:0016534,ICD-11,LB17.0,Exact +GARD:0016534,UMLS,C3495676,Exact +GARD:0016534,ICD-10,Q42.3,Exact +GARD:0016534,ICD-10,Q42.0,Exact +GARD:0016535,SNOMED-CT,19346006,NA +GARD:0016535,Orphanet,558,Exact +GARD:0016535,MeSH,D008382,Exact +GARD:0016535,ICD-10,Q87.4,Exact +GARD:0016535,UMLS,C0024796,Exact +GARD:0016535,OMIM,154700,BTNT +GARD:0016535,MedDRA,10026829,Exact +GARD:0016535,ICD-11,LD28.01,Exact +GARD:0016535,OMIM,610168,NTBT +GARD:0016536,Orphanet,598,Exact +GARD:0016536,UMLS,C0270962,Exact +GARD:0016536,OMIM,255320,BTNT +GARD:0016536,ICD-10,G71.2,NTBT +GARD:0016536,OMIM,117000,NTBT +GARD:0016536,OMIM,602771,BTNT +GARD:0016537,SNOMED-CT,721225009,NA +GARD:0016537,Orphanet,622,Exact +GARD:0016537,ICD-10,E72.1,NTBT +GARD:0016537,OMIM,236270,BTNT +GARD:0016537,OMIM,277410,BTNT +GARD:0016537,OMIM,250940,BTNT +GARD:0016538,SNOMED-CT,234533006,NA +GARD:0016538,Orphanet,632,Exact +GARD:0016538,OMIM,307200,Exact +GARD:0016538,UMLS,C0472813,Exact +GARD:0016538,ICD-10,E23.0,NTBT +GARD:0016539,Orphanet,650,Exact +GARD:0016539,UMLS,C0023195,Exact +GARD:0016539,ICD-10,E78.6,NTBT +GARD:0016539,OMIM,245900,BTNT +GARD:0016539,OMIM,136120,BTNT +GARD:0016539,SNOMED-CT,238091006,NA +GARD:0016540,Orphanet,660,Exact +GARD:0016540,OMIM,310980,BTNT +GARD:0016540,ICD-10,Q79.2,NTBT +GARD:0016540,ICD-11,LB01,Exact +GARD:0016540,SNOMED-CT,18735004,NA +GARD:0016540,MedDRA,10030308,Exact +GARD:0016540,UMLS,C0795690,Exact +GARD:0016540,OMIM,164750,BTNT +GARD:0016541,Orphanet,712,Exact +GARD:0016541,OMIM,613470,Exact +GARD:0016541,ICD-10,D55.2,NTBT +GARD:0016541,SNOMED-CT,52413004,NA +GARD:0016542,SNOMED-CT,718218005,NA +GARD:0016542,Orphanet,737,Exact +GARD:0016542,ICD-10,Q82.8,NTBT +GARD:0016542,UMLS,C0162838,Exact +GARD:0016542,OMIM,175850,Exact +GARD:0016543,SNOMED-CT,439702007,NA +GARD:0016543,Orphanet,743,Exact +GARD:0016543,OMIM,612336,BTNT +GARD:0016543,ICD-10,D68.5,NTBT +GARD:0016543,OMIM,614514,BTNT +GARD:0016544,Orphanet,745,Exact +GARD:0016544,OMIM,612304,BTNT +GARD:0016544,OMIM,176860,BTNT +GARD:0016544,UMLS,C0398625,Exact +GARD:0016544,UMLS,C2930896,Exact +GARD:0016544,ICD-10,D68.2,NTBT +GARD:0016544,SNOMED-CT,439274008,NA +GARD:0016545,Orphanet,756,Exact +GARD:0016545,UMLS,C0268436,Exact +GARD:0016545,OMIM,177735,BTNT +GARD:0016545,ICD-11,GB90.41,Exact +GARD:0016545,UMLS,C1449843,Exact +GARD:0016545,ICD-10,N25.8,NTBT +GARD:0016545,MeSH,D011546,Exact +GARD:0016545,OMIM,264350,BTNT +GARD:0016545,SNOMED-CT,43941006,NA +GARD:0016546,Orphanet,759,Exact +GARD:0016546,OMIM,176400,BTNT +GARD:0016546,ICD-11,5A60.3,Exact +GARD:0016546,ICD-10,E22.8,NTBT +GARD:0016546,UMLS,C0342543,Exact +GARD:0016546,OMIM,615346,BTNT +GARD:0016546,SNOMED-CT,237816004,NA +GARD:0016547,SNOMED-CT,442917000,NA +GARD:0016547,Orphanet,768,Exact +GARD:0016547,ICD-11,BC65.0,Exact +GARD:0016547,OMIM,612347,BTNT +GARD:0016547,OMIM,601005,BTNT +GARD:0016547,OMIM,616247,BTNT +GARD:0016547,OMIM,616249,BTNT +GARD:0016547,UMLS,C1141890,Exact +GARD:0016547,OMIM,613693,BTNT +GARD:0016547,OMIM,613688,BTNT +GARD:0016547,OMIM,611820,BTNT +GARD:0016547,MedDRA,10057926,Exact +GARD:0016547,OMIM,613485,BTNT +GARD:0016547,OMIM,600919,BTNT +GARD:0016547,OMIM,618447,BTNT +GARD:0016547,OMIM,613695,BTNT +GARD:0016547,OMIM,603830,BTNT +GARD:0016547,OMIM,611818,BTNT +GARD:0016547,OMIM,192500,BTNT +GARD:0016547,ICD-10,I45.8,NTBT +GARD:0016547,OMIM,220400,BTNT +GARD:0016547,OMIM,611819,BTNT +GARD:0016547,OMIM,612955,BTNT +GARD:0016548,Orphanet,785,Exact +GARD:0016548,OMIM,615363,Exact +GARD:0016548,ICD-10,E30,NTBT +GARD:0016548,SNOMED-CT,724555000,NA +GARD:0016549,Orphanet,833,Exact +GARD:0016549,OMIM,252150,BTNT +GARD:0016549,OMIM,615501,BTNT +GARD:0016549,OMIM,272300,BTNT +GARD:0016549,ICD-10,E72.1,NTBT +GARD:0016549,SNOMED-CT,715980003,NA +GARD:0016549,OMIM,252160,BTNT +GARD:0016550,SNOMED-CT,55475008,NA +GARD:0016550,Orphanet,844,Exact +GARD:0016550,OMIM,108950,Exact +GARD:0016550,ICD-10,I45.6,NTBT +GARD:0016550,UMLS,C0024054,Exact +GARD:0016550,MedDRA,10024984,Exact +GARD:0016550,UMLS,C1862387,Exact +GARD:0016551,SNOMED-CT,720415006,NA +GARD:0016551,Orphanet,959,Exact +GARD:0016551,ICD-10,Q87.8,NTBT +GARD:0016551,OMIM,607323,NTBT +GARD:0016552,Orphanet,983,Exact +GARD:0016552,MedDRA,10002641,Exact +GARD:0016552,OMIM,273250,Exact +GARD:0016552,UMLS,C0266427,Exact +GARD:0016552,UMLS,C1261504,Exact +GARD:0016552,MeSH,C537770,Exact +GARD:0016552,UMLS,C0405582,Exact +GARD:0016552,ICD-10,Q55.0,Exact +GARD:0016552,SNOMED-CT,53599007,NA +GARD:0016553,SNOMED-CT,720981000,NA +GARD:0016553,Orphanet,1014,Exact +GARD:0016553,ICD-10,Q87.8,NTBT +GARD:0016553,UMLS,C1832593,Exact +GARD:0016553,OMIM,601217,Exact +GARD:0016554,Orphanet,1027,Exact +GARD:0016554,ICD-10,Q73.0,NTBT +GARD:0016554,OMIM,601360,Exact +GARD:0016554,UMLS,C1832432,Exact +GARD:0016554,SNOMED-CT,726735000,NA +GARD:0016555,Orphanet,1083,Exact +GARD:0016555,UMLS,C1956147,Exact +GARD:0016555,OMIM,614019,BTNT +GARD:0016555,OMIM,616212,BTNT +GARD:0016555,ICD-10,Q04.3,NTBT +GARD:0016556,SNOMED-CT,715216008,NA +GARD:0016556,Orphanet,1147,Exact +GARD:0016556,ICD-10,Q68.8,NTBT +GARD:0016556,OMIM,618435,BTNT +GARD:0016556,OMIM,601680,BTNT +GARD:0016556,OMIM,616266,BTNT +GARD:0016556,UMLS,C1834523,Exact +GARD:0016557,Orphanet,1166,Exact +GARD:0016557,MeSH,C535349,Exact +GARD:0016557,UMLS,C0431406,Exact +GARD:0016557,ICD-10,Q87.0,NTBT +GARD:0016557,OMIM,125520,Exact +GARD:0016557,SNOMED-CT,51409009,NA +GARD:0016558,Orphanet,1175,Exact +GARD:0016558,OMIM,302500,NTBT +GARD:0016558,ICD-10,G11.1,NTBT +GARD:0016558,SNOMED-CT,827172005,NA +GARD:0016559,Orphanet,1178,Exact +GARD:0016559,OMIM,272600,Exact +GARD:0016559,UMLS,C1848932,Exact +GARD:0016559,ICD-10,G11.1,NTBT +GARD:0016559,SNOMED-CT,783203003,NA +GARD:0016560,Orphanet,1182,Exact +GARD:0016560,UMLS,C1862441,Exact +GARD:0016560,ICD-10,G11.4,NTBT +GARD:0016560,OMIM,108650,Exact +GARD:0016560,SNOMED-CT,763669001,NA +GARD:0016561,Orphanet,1194,Exact +GARD:0016561,OMIM,614052,Exact +GARD:0016561,ICD-10,G71.3,NTBT +GARD:0016561,UMLS,C3279699,Exact +GARD:0016561,SNOMED-CT,718212006,NA +GARD:0016562,Orphanet,1295,Exact +GARD:0016562,UMLS,C2931421,Exact +GARD:0016562,OMIM,113480,Exact +GARD:0016562,ICD-10,Q87.0,NTBT +GARD:0016562,SNOMED-CT,720574003,NA +GARD:0016563,Orphanet,1336,Exact +GARD:0016563,OMIM,144190,Exact +GARD:0016563,UMLS,C1840428,Exact +GARD:0016563,ICD-10,Q82.8,NTBT +GARD:0016564,Orphanet,1344,Exact +GARD:0016564,UMLS,C0541782,Exact +GARD:0016564,OMIM,108770,BTNT +GARD:0016564,ICD-10,I45.5,NTBT +GARD:0016564,OMIM,615745,BTNT +GARD:0016564,UMLS,C1838539,Exact +GARD:0016564,SNOMED-CT,450919004,NA +GARD:0016565,Orphanet,1422,Exact +GARD:0016565,ICD-10,Q87.1,NTBT +GARD:0016565,OMIM,600092,Exact +GARD:0016565,UMLS,C1838654,Exact +GARD:0016565,SNOMED-CT,720851007,NA +GARD:0016566,Orphanet,1479,Exact +GARD:0016566,UMLS,C3502353,Exact +GARD:0016566,OMIM,108900,Exact +GARD:0016566,ICD-10,Q21.1,NTBT +GARD:0016566,SNOMED-CT,725145002,NA +GARD:0016567,SNOMED-CT,720748007,NA +GARD:0016567,Orphanet,1488,Exact +GARD:0016567,OMIM,209770,Exact +GARD:0016567,ICD-10,Q87.8,NTBT +GARD:0016567,UMLS,C1859591,Exact +GARD:0016568,Orphanet,1507,Exact +GARD:0016568,OMIM,618529,Exact +GARD:0016568,OMIM,268310,Exact +GARD:0016568,MeSH,C535863,Exact +GARD:0016568,UMLS,C1849334,Exact +GARD:0016568,ICD-10,Q87.1,NTBT +GARD:0016569,Orphanet,1561,Exact +GARD:0016569,UMLS,C1858424,Exact +GARD:0016569,ICD-10,G71.3,NTBT +GARD:0016569,OMIM,616500,BTNT +GARD:0016569,OMIM,615119,BTNT +GARD:0016569,OMIM,604377,BTNT +GARD:0016569,OMIM,616501,BTNT +GARD:0016569,SNOMED-CT,718124006,NA +GARD:0016570,SNOMED-CT,770566002,NA +GARD:0016570,Orphanet,1587,Exact +GARD:0016570,ICD-10,Q93.5,NTBT +GARD:0016570,OMIM,613884,Exact +GARD:0016571,Orphanet,1590,Exact +GARD:0016571,ICD-10,Q93.5,NTBT +GARD:0016571,SNOMED-CT,763527007,NA +GARD:0016571,UMLS,C1865208,Exact +GARD:0016571,UMLS,C2930913,Exact +GARD:0016571,OMIM,602553,Exact +GARD:0016572,SNOMED-CT,766050000,NA +GARD:0016572,Orphanet,1596,Exact +GARD:0016572,UMLS,C2675463,Exact +GARD:0016572,ICD-10,Q93.5,NTBT +GARD:0016572,OMIM,612626,Exact +GARD:0016573,Orphanet,1621,Exact +GARD:0016573,OMIM,615433,Exact +GARD:0016573,MeSH,C536808,Exact +GARD:0016573,UMLS,C2931338,Exact +GARD:0016573,ICD-10,Q93.5,NTBT +GARD:0016573,SNOMED-CT,726705007,NA +GARD:0016574,Orphanet,1646,Exact +GARD:0016574,UMLS,C1507149,Exact +GARD:0016574,OMIM,400042,BTNT +GARD:0016574,MeSH,C536297,Exact +GARD:0016574,UMLS,C2931163,Exact +GARD:0016574,ICD-10,Q98.6,NTBT +GARD:0016574,OMIM,415000,BTNT +GARD:0016574,SNOMED-CT,717158001,NA +GARD:0016575,SNOMED-CT,109492001,NA +GARD:0016575,Orphanet,1653,Exact +GARD:0016575,ICD-11,LA30.7,Exact +GARD:0016575,MeSH,D003805,Exact +GARD:0016575,OMIM,125420,BTNT +GARD:0016575,OMIM,125400,BTNT +GARD:0016575,ICD-10,K00.5,NTBT +GARD:0016575,UMLS,C0011430,Exact +GARD:0016576,SNOMED-CT,734019006,NA +GARD:0016576,Orphanet,1670,Exact +GARD:0016576,ICD-10,K59.1,NTBT +GARD:0016576,OMIM,618662,Exact +GARD:0016576,UMLS,C1838912,Exact +GARD:0016576,OMIM,520100,Exact +GARD:0016577,SNOMED-CT,720512007,NA +GARD:0016577,Orphanet,1682,Exact +GARD:0016577,OMIM,600459,Exact +GARD:0016577,UMLS,C1838122,Exact +GARD:0016577,ICD-10,Q87.8,NTBT +GARD:0016578,SNOMED-CT,734017008,NA +GARD:0016578,Orphanet,1812,Exact +GARD:0016578,OMIM,225040,Exact +GARD:0016578,UMLS,C1857053,Exact +GARD:0016578,ICD-10,Q87.8,NTBT +GARD:0016579,Orphanet,1848,Exact +GARD:0016579,UMLS,C1609433,Exact +GARD:0016579,OMIM,617805,NTBT +GARD:0016579,ICD-11,LB30.00,NTBT +GARD:0016579,MeSH,C536482,Exact +GARD:0016579,ICD-10,Q60.1,Exact +GARD:0016579,OMIM,191830,Exact +GARD:0016580,SNOMED-CT,716020005,NA +GARD:0016580,Orphanet,1926,Exact +GARD:0016580,OMIM,601759,BTNT +GARD:0016580,ICD-10,P00.4,BTNT +GARD:0016581,Orphanet,1935,Exact +GARD:0016581,ICD-10,G40.4,Exact +GARD:0016581,UMLS,C0270855,Exact +GARD:0016581,OMIM,609304,BTNT +GARD:0016581,OMIM,616341,BTNT +GARD:0016581,OMIM,617105,BTNT +GARD:0016581,SNOMED-CT,44423001,NA +GARD:0016582,Orphanet,2024,Exact +GARD:0016582,UMLS,C0399440,Exact +GARD:0016582,ICD-10,K06.1,NTBT +GARD:0016582,OMIM,605544,BTNT +GARD:0016582,OMIM,135300,Exact +GARD:0016582,OMIM,609955,BTNT +GARD:0016582,OMIM,611010,BTNT +GARD:0016582,OMIM,617626,BTNT +GARD:0016582,SNOMED-CT,109620006,NA +GARD:0016583,Orphanet,2028,Exact +GARD:0016583,OMIM,228600,NTBT +GARD:0016583,UMLS,C0406578,Exact +GARD:0016583,ICD-10,M72.8,NTBT +GARD:0016583,MeSH,D057770,Exact +GARD:0016583,SNOMED-CT,238861002,NA +GARD:0016584,Orphanet,2076,Exact +GARD:0016584,OMIM,300423,BTNT +GARD:0016584,OMIM,300607,BTNT +GARD:0016584,OMIM,300088,BTNT +GARD:0016585,SNOMED-CT,18978002,NA +GARD:0016585,Orphanet,2138,Exact +GARD:0016585,UMLS,C2748895,Exact +GARD:0016585,UMLS,C0266361,Exact +GARD:0016585,MeSH,D050090,Exact +GARD:0016585,ICD-11,LD2A.0,Exact +GARD:0016585,ICD-10,Q56.0,NTBT +GARD:0016585,OMIM,400045,NTBT +GARD:0016586,Orphanet,2149,Exact +GARD:0016586,OMIM,608098,BTNT +GARD:0016586,OMIM,617201,BTNT +GARD:0016586,OMIM,608097,BTNT +GARD:0016586,ICD-10,Q04.8,NTBT +GARD:0016586,OMIM,615544,BTNT +GARD:0016586,OMIM,300049,BTNT +GARD:0016586,OMIM,612881,BTNT +GARD:0016587,Orphanet,2197,Exact +GARD:0016587,ICD-10,E83.5,NTBT +GARD:0016587,OMIM,143870,BTNT +GARD:0016587,UMLS,C0543800,Exact +GARD:0016587,OMIM,607258,BTNT +GARD:0016588,Orphanet,2232,Exact +GARD:0016588,UMLS,C2931374,Exact +GARD:0016588,ICD-10,E28.3,BTNT +GARD:0016588,ICD-10,E29.1,BTNT +GARD:0016588,OMIM,241090,Exact +GARD:0016588,SNOMED-CT,719275009,NA +GARD:0016589,Orphanet,2239,Exact +GARD:0016589,OMIM,307700,Exact +GARD:0016589,ICD-10,E20.8,NTBT +GARD:0016589,OMIM,146200,NTBT +GARD:0016590,SNOMED-CT,724281002,NA +GARD:0016590,Orphanet,2250,Exact +GARD:0016590,ICD-10,Q87.0,NTBT +GARD:0016590,OMIM,603457,NTBT +GARD:0016591,SNOMED-CT,277656005,NA +GARD:0016591,Orphanet,2257,Exact +GARD:0016591,OMIM,265430,Exact +GARD:0016591,ICD-10,Q33.6,NTBT +GARD:0016592,Orphanet,2301,Exact +GARD:0016592,ICD-11,LB15.2,Exact +GARD:0016592,OMIM,300048,BTNT +GARD:0016592,OMIM,615237,Exact +GARD:0016592,ICD-10,Q43.8,NTBT +GARD:0016592,SNOMED-CT,715201005,NA +GARD:0016593,Orphanet,2310,Exact +GARD:0016593,OMIM,246000,Exact +GARD:0016593,UMLS,C1855523,Exact +GARD:0016593,SNOMED-CT,716099003,NA +GARD:0016594,SNOMED-CT,82837002,NA +GARD:0016594,Orphanet,2333,Exact +GARD:0016594,UMLS,C0265291,Exact +GARD:0016594,OMIM,127000,BTNT +GARD:0016594,OMIM,244460,BTNT +GARD:0016594,MeSH,C537020,Exact +GARD:0016594,ICD-10,Q87.1,NTBT +GARD:0016595,SNOMED-CT,764956007,NA +GARD:0016595,Orphanet,2370,Exact +GARD:0016595,ICD-10,Q74.8,NTBT +GARD:0016595,OMIM,608545,Exact +GARD:0016596,Orphanet,2374,Exact +GARD:0016596,OMIM,150360,Exact +GARD:0016596,UMLS,C0281890,Exact +GARD:0016596,MedDRA,10023871,Exact +GARD:0016596,ICD-11,LA71.Y,NTBT +GARD:0016596,ICD-10,Q31.0,Exact +GARD:0016596,SNOMED-CT,47070001,NA +GARD:0016596,UMLS,C1835494,Exact +GARD:0016596,UMLS,C0152416,Exact +GARD:0016597,Orphanet,2375,Exact +GARD:0016597,UMLS,C0396059,Exact +GARD:0016597,ICD-10,J38.0,NTBT +GARD:0016597,OMIM,308850,Exact +GARD:0016597,SNOMED-CT,724178000,NA +GARD:0016598,Orphanet,2429,Exact +GARD:0016598,OMIM,600302,Exact +GARD:0016598,ICD-10,Q87.8,NTBT +GARD:0016598,UMLS,C1838281,Exact +GARD:0016598,SNOMED-CT,716108004,NA +GARD:0016599,SNOMED-CT,270516002,NA +GARD:0016599,Orphanet,2430,Exact +GARD:0016599,ICD-10,Q38.2,NTBT +GARD:0016599,ICD-11,LA31.0,Exact +GARD:0016599,UMLS,C0009677,Exact +GARD:0016599,OMIM,153630,Exact +GARD:0016599,MeSH,C531735,Exact +GARD:0016600,Orphanet,2451,Exact +GARD:0016600,OMIM,600195,Exact +GARD:0016600,UMLS,C1838437,Exact +GARD:0016600,ICD-10,Q27.8,NTBT +GARD:0016600,SNOMED-CT,699301008,NA +GARD:0016601,SNOMED-CT,9740002,NA +GARD:0016601,Orphanet,2477,Exact +GARD:0016601,OMIM,155350,BTNT +GARD:0016601,ICD-10,Q04.5,Exact +GARD:0016601,UMLS,C2720434,Exact +GARD:0016601,ICD-11,LA05.1,Exact +GARD:0016601,OMIM,248000,BTNT +GARD:0016601,MedDRA,10050183,Exact +GARD:0016601,UMLS,C0221355,Exact +GARD:0016602,SNOMED-CT,716110002,NA +GARD:0016602,Orphanet,2489,Exact +GARD:0016602,UMLS,C1848816,Exact +GARD:0016602,ICD-10,Q87.8,NTBT +GARD:0016602,OMIM,274205,Exact +GARD:0016603,SNOMED-CT,770404004,NA +GARD:0016603,Orphanet,2518,Exact +GARD:0016603,ICD-10,Q87.8,NTBT +GARD:0016603,UMLS,C3502492,Exact +GARD:0016603,OMIM,251270,Exact +GARD:0016603,OMIM,616335,BTNT +GARD:0016604,Orphanet,2680,Exact +GARD:0016604,OMIM,616286,BTNT +GARD:0016604,OMIM,618186,BTNT +GARD:0016604,OMIM,617468,BTNT +GARD:0016604,OMIM,616287,BTNT +GARD:0016604,SNOMED-CT,766931003,NA +GARD:0016604,ICD-10,Q68.8,NTBT +GARD:0016605,SNOMED-CT,784392009,NA +GARD:0016605,Orphanet,2688,Exact +GARD:0016605,OMIM,607847,Exact +GARD:0016605,ICD-10,D70,NTBT +GARD:0016605,UMLS,C1842930,Exact +GARD:0016606,Orphanet,2714,Exact +GARD:0016606,OMIM,257910,Exact +GARD:0016606,UMLS,C1850338,Exact +GARD:0016606,SNOMED-CT,722055008,NA +GARD:0016606,ICD-10,Q87.1,NTBT +GARD:0016607,Orphanet,2718,Exact +GARD:0016607,OMIM,257960,Exact +GARD:0016607,UMLS,C1850332,Exact +GARD:0016607,SNOMED-CT,722062004,NA +GARD:0016608,Orphanet,2733,Exact +GARD:0016608,OMIM,258315,BTNT +GARD:0016608,OMIM,164745,BTNT +GARD:0016608,ICD-10,Q78.8,NTBT +GARD:0016608,SNOMED-CT,725164008,NA +GARD:0016609,Orphanet,2809,Exact +GARD:0016609,OMIM,134200,Exact +GARD:0016609,ICD-10,G51.0,NTBT +GARD:0016609,UMLS,C1851399,Exact +GARD:0016609,SNOMED-CT,783257005,NA +GARD:0016610,Orphanet,2828,Exact +GARD:0016610,ICD-10,G20,NTBT +GARD:0016610,OMIM,606852,BTNT +GARD:0016610,OMIM,615528,NTBT +GARD:0016610,OMIM,613643,BTNT +GARD:0016610,OMIM,300557,BTNT +GARD:0016610,OMIM,616840,BTNT +GARD:0016610,OMIM,602404,BTNT +GARD:0016610,OMIM,606324,BTNT +GARD:0016610,OMIM,610297,BTNT +GARD:0016610,OMIM,600116,BTNT +GARD:0016610,OMIM,605909,BTNT +GARD:0016610,SNOMED-CT,715345007,NA +GARD:0016611,Orphanet,2839,Exact +GARD:0016611,OMIM,169550,Exact +GARD:0016611,ICD-10,Q87.5,NTBT +GARD:0016611,UMLS,C1868508,Exact +GARD:0016611,SNOMED-CT,719298001,NA +GARD:0016612,SNOMED-CT,716193004,NA +GARD:0016612,Orphanet,2868,Exact +GARD:0016612,ICD-10,Q87.1,NTBT +GARD:0016612,OMIM,126190,Exact +GARD:0016613,Orphanet,2880,Exact +GARD:0016613,OMIM,261680,BTNT +GARD:0016613,UMLS,C0268194,Exact +GARD:0016613,OMIM,261650,BTNT +GARD:0016613,MeSH,C536654,Exact +GARD:0016613,ICD-10,E74.4,NTBT +GARD:0016613,SNOMED-CT,5335002,NA +GARD:0016614,SNOMED-CT,773279006,NA +GARD:0016614,Orphanet,2916,Exact +GARD:0016614,ICD-10,Q87.2,NTBT +GARD:0016614,OMIM,263540,Exact +GARD:0016614,UMLS,C1849732,Exact +GARD:0016615,SNOMED-CT,719685004,NA +GARD:0016615,Orphanet,2951,Exact +GARD:0016615,ICD-10,D82.8,NTBT +GARD:0016615,OMIM,274190,Exact +GARD:0016615,UMLS,C1848818,Exact +GARD:0016616,Orphanet,2968,Exact +GARD:0016616,OMIM,116920,BTNT +GARD:0016616,UMLS,C0242597,Exact +GARD:0016616,ICD-10,D84.8,NTBT +GARD:0016616,UMLS,C0398738,Exact +GARD:0016616,OMIM,266265,BTNT +GARD:0016616,MeSH,D018370,Exact +GARD:0016616,OMIM,612840,BTNT +GARD:0016616,SNOMED-CT,77358003,NA +GARD:0016617,Orphanet,2975,Exact +GARD:0016617,OMIM,264270,Exact +GARD:0016617,ICD-10,Q56.2,NTBT +GARD:0016617,UMLS,C1849696,Exact +GARD:0016617,SNOMED-CT,733621007,NA +GARD:0016618,Orphanet,3047,Exact +GARD:0016618,OMIM,603736,Exact +GARD:0016618,UMLS,C1863557,Exact +GARD:0016618,ICD-10,Q87.8,NTBT +GARD:0016619,SNOMED-CT,8712002,NA +GARD:0016619,Orphanet,3092,Exact +GARD:0016619,UMLS,C1848979,Exact +GARD:0016619,OMIM,271950,BTNT +GARD:0016619,ICD-11,LA8A.5,NTBT +GARD:0016619,ICD-10,Q24.4,Exact +GARD:0016620,Orphanet,3107,Exact +GARD:0016620,OMIM,616894,BTNT +GARD:0016620,UMLS,C0265205,Exact +GARD:0016620,OMIM,180700,Exact +GARD:0016620,ICD-10,Q87.1,NTBT +GARD:0016620,OMIM,616331,BTNT +GARD:0016621,SNOMED-CT,238048001,NA +GARD:0016621,Orphanet,3137,Exact +GARD:0016621,OMIM,609241,BTNT +GARD:0016621,ICD-10,E77.1,NTBT +GARD:0016621,OMIM,609242,BTNT +GARD:0016621,UMLS,C1836544,Exact +GARD:0016621,UMLS,C0342850,Exact +GARD:0016622,Orphanet,3175,Exact +GARD:0016622,OMIM,308350,NTBT +GARD:0016622,ICD-10,G25.3,NTBT +GARD:0016622,SNOMED-CT,725163002,NA +GARD:0016623,SNOMED-CT,67278007,NA +GARD:0016623,Orphanet,3189,Exact +GARD:0016623,MedDRA,10037451,Exact +GARD:0016623,OMIM,265500,BTNT +GARD:0016623,MeSH,D011666,Exact +GARD:0016623,UMLS,C0162164,Exact +GARD:0016623,ICD-10,Q22.1,Exact +GARD:0016623,ICD-11,LA8A.00,Exact +GARD:0016624,SNOMED-CT,773735007,NA +GARD:0016624,Orphanet,3231,Exact +GARD:0016624,ICD-10,Q87.8,NTBT +GARD:0016624,OMIM,124480,BTNT +GARD:0016624,OMIM,220500,BTNT +GARD:0016625,Orphanet,3260,Exact +GARD:0016625,OMIM,607685,Exact +GARD:0016625,ICD-10,D47.5,NTBT +GARD:0016625,UMLS,C0206141,Exact +GARD:0016625,SNOMED-CT,423294001,NA +GARD:0016626,Orphanet,3366,Exact +GARD:0016626,OMIM,190440,BTNT +GARD:0016626,OMIM,614485,BTNT +GARD:0016626,ICD-10,Q75.0,NTBT +GARD:0016626,UMLS,C0265535,Exact +GARD:0016627,SNOMED-CT,61959006,NA +GARD:0016627,Orphanet,3384,Exact +GARD:0016627,OMIM,217095,NTBT +GARD:0016627,ICD-10,Q20.0,Exact +GARD:0016627,ICD-11,LA85.4,Exact +GARD:0016627,UMLS,C0041207,Exact +GARD:0016628,Orphanet,3467,Exact +GARD:0016628,ICD-11,5C55.00,Exact +GARD:0016628,OMIM,603592,BTNT +GARD:0016628,OMIM,278300,BTNT +GARD:0016628,ICD-10,E79.8,NTBT +GARD:0016628,SNOMED-CT,54627004,NA +GARD:0016629,Orphanet,30925,Exact +GARD:0016629,ICD-10,E23.2,Exact +GARD:0016629,OMIM,125700,Exact +GARD:0016629,OMIM,304900,BTNT +GARD:0016629,ICD-11,5A61.5,NTBT +GARD:0016630,SNOMED-CT,724091002,NA +GARD:0016630,Orphanet,33445,Exact +GARD:0016630,ICD-10,L81.4,NTBT +GARD:0016630,OMIM,256710,Exact +GARD:0016630,UMLS,C1860157,Exact +GARD:0016630,MeSH,C536203,Exact +GARD:0016631,Orphanet,33574,Exact +GARD:0016631,UMLS,C1856603,Exact +GARD:0016631,ICD-10,D55.1,NTBT +GARD:0016631,OMIM,230450,Exact +GARD:0016631,SNOMED-CT,36799008,NA +GARD:0016632,Orphanet,35078,Exact +GARD:0016632,ICD-10,D81.2,NTBT +GARD:0016632,SNOMED-CT,718107000,NA +GARD:0016632,OMIM,600802,Exact +GARD:0016633,SNOMED-CT,72239002,NA +GARD:0016633,Orphanet,35093,Exact +GARD:0016633,OMIM,123100,BTNT +GARD:0016633,OMIM,615529,BTNT +GARD:0016633,OMIM,600775,NTBT +GARD:0016633,UMLS,C0265534,Exact +GARD:0016633,ICD-10,Q75.0,NTBT +GARD:0016634,SNOMED-CT,13649004,NA +GARD:0016634,Orphanet,35099,Exact +GARD:0016634,ICD-10,Q75.0,NTBT +GARD:0016634,UMLS,C0221356,Exact +GARD:0016634,OMIM,123100,BTNT +GARD:0016634,OMIM,616602,BTNT +GARD:0016634,OMIM,615314,BTNT +GARD:0016635,SNOMED-CT,34194007,NA +GARD:0016635,Orphanet,35120,Exact +GARD:0016635,ICD-10,D55.3,NTBT +GARD:0016635,OMIM,266120,Exact +GARD:0016635,UMLS,C1849507,Exact +GARD:0016636,SNOMED-CT,57863006,NA +GARD:0016636,Orphanet,35121,Exact +GARD:0016636,UMLS,C0268410,Exact +GARD:0016636,OMIM,200950,Exact +GARD:0016636,ICD-10,E83.3,NTBT +GARD:0016637,Orphanet,35612,Exact +GARD:0016637,OMIM,615972,BTNT +GARD:0016637,OMIM,609549,BTNT +GARD:0016637,OMIM,613517,BTNT +GARD:0016637,ICD-10,Q11.2,Exact +GARD:0016637,ICD-11,LA10.0,NTBT +GARD:0016637,OMIM,600165,BTNT +GARD:0016637,OMIM,611897,BTNT +GARD:0016637,SNOMED-CT,716775009,NA +GARD:0016638,Orphanet,35664,Exact +GARD:0016638,ICD-10,Q87.8,NTBT +GARD:0016638,OMIM,219150,Exact +GARD:0016639,Orphanet,35909,Exact +GARD:0016639,OMIM,227300,BTNT +GARD:0016639,OMIM,613625,BTNT +GARD:0016639,UMLS,C1856883,Exact +GARD:0016639,SNOMED-CT,715559004,NA +GARD:0016639,ICD-10,D68.8,NTBT +GARD:0016639,OMIM,227310,BTNT +GARD:0016640,SNOMED-CT,717633007,NA +GARD:0016640,Orphanet,36367,Exact +GARD:0016640,ICD-10,Q93.5,NTBT +GARD:0016640,OMIM,612337,NTBT +GARD:0016641,Orphanet,37612,Exact +GARD:0016641,UMLS,C1719788,Exact +GARD:0016641,OMIM,160120,Exact +GARD:0016641,ICD-10,G11.8,NTBT +GARD:0016641,SNOMED-CT,421182009,NA +GARD:0016642,SNOMED-CT,234646005,NA +GARD:0016642,Orphanet,39812,Exact +GARD:0016642,OMIM,614395,Exact +GARD:0016642,MedDRA,10018651,Exact +GARD:0016642,UMLS,C0018133,Exact +GARD:0016642,ICD-10,T86.0,NTBT +GARD:0016643,Orphanet,43115,Exact +GARD:0016643,UMLS,C1850718,Exact +GARD:0016643,ICD-10,G71.3,NTBT +GARD:0016643,SNOMED-CT,699268002,NA +GARD:0016643,OMIM,255125,Exact +GARD:0016644,Orphanet,47159,Exact +GARD:0016644,OMIM,604278,BTNT +GARD:0016644,OMIM,179830,Exact +GARD:0016644,ICD-10,N25.8,NTBT +GARD:0016644,UMLS,C0268435,Exact +GARD:0016644,MedDRA,10037080,Exact +GARD:0016644,SNOMED-CT,24790002,NA +GARD:0016645,Orphanet,48431,Exact +GARD:0016645,OMIM,604168,Exact +GARD:0016645,UMLS,C1858726,Exact +GARD:0016645,ICD-10,Q87.8,NTBT +GARD:0016645,SNOMED-CT,702433001,NA +GARD:0016646,Orphanet,50811,Exact +GARD:0016646,ICD-10,Q78.8,NTBT +GARD:0016646,UMLS,C1842465,Exact +GARD:0016646,OMIM,608154,Exact +GARD:0016646,SNOMED-CT,721973006,NA +GARD:0016647,SNOMED-CT,725100001,NA +GARD:0016647,Orphanet,50814,Exact +GARD:0016647,OMIM,607812,Exact +GARD:0016647,UMLS,C1843042,Exact +GARD:0016647,ICD-10,Q75.8,NTBT +GARD:0016648,Orphanet,50815,Exact +GARD:0016648,OMIM,609166,Exact +GARD:0016648,ICD-10,Q87.0,NTBT +GARD:0016648,SNOMED-CT,717944002,NA +GARD:0016648,UMLS,C1836673,Exact +GARD:0016649,SNOMED-CT,700062000,NA +GARD:0016649,Orphanet,50944,Exact +GARD:0016649,ICD-10,Q82.8,NTBT +GARD:0016649,UMLS,C1857069,Exact +GARD:0016649,OMIM,224750,Exact +GARD:0016650,Orphanet,51083,Exact +GARD:0016650,ICD-11,BC65.2,Exact +GARD:0016650,OMIM,609622,BTNT +GARD:0016650,ICD-10,I49.8,NTBT +GARD:0016650,OMIM,609621,BTNT +GARD:0016650,OMIM,609620,Exact +GARD:0016650,SNOMED-CT,698272007,NA +GARD:0016651,Orphanet,51084,Exact +GARD:0016651,OMIM,613600,Exact +GARD:0016651,ICD-10,I49.8,NTBT +GARD:0016651,SNOMED-CT,718104007,NA +GARD:0016652,SNOMED-CT,720575002,NA +GARD:0016652,Orphanet,52047,Exact +GARD:0016652,ICD-10,Q87.8,NTBT +GARD:0016652,UMLS,C1842082,Exact +GARD:0016652,OMIM,608406,Exact +GARD:0016653,Orphanet,52054,Exact +GARD:0016653,OMIM,608432,Exact +GARD:0016653,ICD-10,Q87.0,NTBT +GARD:0016653,SNOMED-CT,720816004,NA +GARD:0016654,Orphanet,52056,Exact +GARD:0016654,ICD-10,Q73.8,NTBT +GARD:0016654,UMLS,C1837830,Exact +GARD:0016654,SNOMED-CT,719843001,NA +GARD:0016654,OMIM,608571,Exact +GARD:0016655,SNOMED-CT,715562001,NA +GARD:0016655,Orphanet,52427,Exact +GARD:0016655,ICD-10,H35.5,NTBT +GARD:0016655,UMLS,C0311338,Exact +GARD:0016655,OMIM,136880,NTBT +GARD:0016655,UMLS,C1405854,Exact +GARD:0016656,Orphanet,53583,Exact +GARD:0016656,UMLS,C1832855,Exact +GARD:0016656,ICD-10,G24.8,NTBT +GARD:0016656,OMIM,601042,Exact +GARD:0016656,SNOMED-CT,715564000,NA +GARD:0016657,Orphanet,53691,Exact +GARD:0016657,OMIM,121400,BTNT +GARD:0016657,OMIM,217300,BTNT +GARD:0016657,ICD-10,Q13.4,NTBT +GARD:0016657,SNOMED-CT,204145006,NA +GARD:0016658,SNOMED-CT,715565004,NA +GARD:0016658,Orphanet,53696,Exact +GARD:0016658,OMIM,611890,Exact +GARD:0016658,ICD-10,Q68.8,NTBT +GARD:0016658,UMLS,C2678471,Exact +GARD:0016659,Orphanet,54057,Exact +GARD:0016659,ICD-10,M31.1,NTBT +GARD:0016659,OMIM,274150,BTNT +GARD:0016659,ICD-11,3B64.14,Exact +GARD:0016659,MedDRA,10043648,Exact +GARD:0016659,MeSH,D011697,Exact +GARD:0016659,UMLS,C0034155,Exact +GARD:0016659,SNOMED-CT,78129009,NA +GARD:0016660,Orphanet,55881,Exact +GARD:0016660,SNOMED-CT,307609003,NA +GARD:0016660,ICD-10,C40.2,NTBT +GARD:0016660,OMIM,102660,Exact +GARD:0016660,UMLS,C1367554,Exact +GARD:0016660,MeSH,D050398,Exact +GARD:0016661,Orphanet,59298,Exact +GARD:0016661,ICD-10,G37.0,Exact +GARD:0016661,UMLS,C0007795,Exact +GARD:0016661,ICD-11,8A40.Y,NTBT +GARD:0016661,OMIM,272100,Exact +GARD:0016661,SNOMED-CT,49692006,NA +GARD:0016662,Orphanet,60015,Exact +GARD:0016662,ICD-10,Q75.8,NTBT +GARD:0016662,OMIM,609597,BTNT +GARD:0016662,UMLS,C1868598,Exact +GARD:0016662,OMIM,609566,BTNT +GARD:0016662,OMIM,168500,Exact +GARD:0016662,SNOMED-CT,718099006,NA +GARD:0016663,Orphanet,60026,Exact +GARD:0016663,OMIM,178610,Exact +GARD:0016663,SNOMED-CT,718097008,NA +GARD:0016664,SNOMED-CT,233629001,NA +GARD:0016664,Orphanet,60033,Exact +GARD:0016664,OMIM,613021,BTNT +GARD:0016664,OMIM,613071,BTNT +GARD:0016664,ICD-10,J47,NTBT +GARD:0016664,UMLS,C0339985,Exact +GARD:0016664,OMIM,211400,BTNT +GARD:0016665,Orphanet,63269,Exact +GARD:0016665,OMIM,201750,Exact +GARD:0016666,SNOMED-CT,733489002,NA +GARD:0016666,Orphanet,63273,Exact +GARD:0016666,ICD-10,G71.0,NTBT +GARD:0016666,OMIM,614065,Exact +GARD:0016667,Orphanet,64280,Exact +GARD:0016667,OMIM,611942,BTNT +GARD:0016667,ICD-11,8A61.21,Exact +GARD:0016667,ICD-10,G40.3,NTBT +GARD:0016667,OMIM,600131,Exact +GARD:0016667,OMIM,611136,NTBT +GARD:0016667,OMIM,612269,BTNT +GARD:0016667,OMIM,607681,BTNT +GARD:0016667,SNOMED-CT,50866000,NA +GARD:0016668,Orphanet,64739,Exact +GARD:0016668,MeSH,D016471,Exact +GARD:0016668,OMIM,608115,Exact +GARD:0016668,UMLS,C0085083,Exact +GARD:0016668,SNOMED-CT,129635004,NA +GARD:0016668,ICD-11,GA32.0,Exact +GARD:0016668,ICD-10,N98.1,Exact +GARD:0016668,MedDRA,10033266,Exact +GARD:0016669,Orphanet,65287,Exact +GARD:0016669,OMIM,613161,Exact +GARD:0016669,ICD-10,E79.8,NTBT +GARD:0016669,UMLS,C1291512,Exact +GARD:0016669,SNOMED-CT,124511000,NA +GARD:0016670,Orphanet,65288,Exact +GARD:0016670,OMIM,609069,Exact +GARD:0016670,ICD-10,P70.2,NTBT +GARD:0016670,UMLS,C1836780,Exact +GARD:0016670,SNOMED-CT,724067006,NA +GARD:0016671,Orphanet,65683,Exact +GARD:0016671,ICD-10,Q04.8,NTBT +GARD:0016671,OMIM,607341,BTNT +GARD:0016671,UMLS,C2938983,Exact +GARD:0016671,UMLS,C1846385,Exact +GARD:0016671,SNOMED-CT,766710005,NA +GARD:0016672,Orphanet,65720,Exact +GARD:0016672,OMIM,609128,Exact +GARD:0016672,ICD-10,Q68.8,NTBT +GARD:0016672,UMLS,C1836756,Exact +GARD:0016672,SNOMED-CT,715575001,NA +GARD:0016673,Orphanet,66630,Exact +GARD:0016673,UMLS,C0265565,Exact +GARD:0016673,ICD-10,Q74.0,NTBT +GARD:0016673,OMIM,118980,Exact +GARD:0016673,SNOMED-CT,70794004,NA +GARD:0016674,SNOMED-CT,721094006,NA +GARD:0016674,Orphanet,66637,Exact +GARD:0016674,ICD-10,Q78.8,NTBT +GARD:0016674,UMLS,C1842691,Exact +GARD:0016674,OMIM,608022,Exact +GARD:0016675,Orphanet,67041,Exact +GARD:0016675,ICD-10,E76.2,NTBT +GARD:0016675,UMLS,C1291490,Exact +GARD:0016675,OMIM,601492,Exact +GARD:0016675,SNOMED-CT,124473006,NA +GARD:0016676,SNOMED-CT,722475006,NA +GARD:0016676,Orphanet,67044,Exact +GARD:0016676,UMLS,C1845837,Exact +GARD:0016676,OMIM,300367,NTBT +GARD:0016676,ICD-10,D69.4,NTBT +GARD:0016677,Orphanet,67045,Exact +GARD:0016677,OMIM,300123,NTBT +GARD:0016677,ICD-10,E23.0,NTBT +GARD:0016677,UMLS,C1848068,Exact +GARD:0016678,SNOMED-CT,236380004,NA +GARD:0016678,Orphanet,69061,Exact +GARD:0016678,ICD-10,N04.0,NTBT +GARD:0016678,OMIM,615861,NTBT +GARD:0016679,Orphanet,69082,Exact +GARD:0016679,OMIM,601957,Exact +GARD:0016679,UMLS,C1865998,Exact +GARD:0016679,SNOMED-CT,722063009,NA +GARD:0016680,Orphanet,69084,Exact +GARD:0016680,UMLS,C1865951,Exact +GARD:0016680,OMIM,614929,BTNT +GARD:0016680,OMIM,614927,BTNT +GARD:0016680,OMIM,614931,BTNT +GARD:0016680,ICD-10,Q82.8,NTBT +GARD:0016680,OMIM,602032,BTNT +GARD:0016680,OMIM,614928,BTNT +GARD:0016681,Orphanet,69088,Exact +GARD:0016681,OMIM,300291,Exact +GARD:0016681,UMLS,C1845919,Exact +GARD:0016681,ICD-10,Q78.2,NTBT +GARD:0016681,SNOMED-CT,720986005,NA +GARD:0016682,SNOMED-CT,239013001,NA +GARD:0016682,Orphanet,69125,Exact +GARD:0016682,OMIM,106750,Exact +GARD:0016682,UMLS,C1862844,Exact +GARD:0016683,SNOMED-CT,715577009,NA +GARD:0016683,Orphanet,69663,Exact +GARD:0016683,ICD-10,K80.8,NTBT +GARD:0016683,UMLS,C2609268,Exact +GARD:0016683,MedDRA,10068936,Exact +GARD:0016683,OMIM,600803,Exact +GARD:0016684,Orphanet,69737,Exact +GARD:0016684,ICD-10,Q87.8,NTBT +GARD:0016684,OMIM,601536,NTBT +GARD:0016684,UMLS,C1832216,Exact +GARD:0016684,SNOMED-CT,720567008,NA +GARD:0016685,Orphanet,70474,Exact +GARD:0016685,ICD-10,G31.8,NTBT +GARD:0016685,OMIM,618252,BTNT +GARD:0016685,OMIM,618228,BTNT +GARD:0016685,OMIM,256000,NTBT +GARD:0016686,Orphanet,71271,Exact +GARD:0016686,ICD-10,Q87.2,NTBT +GARD:0016686,OMIM,220600,Exact +GARD:0016686,UMLS,C1857344,Exact +GARD:0016686,SNOMED-CT,723611008,NA +GARD:0016687,Orphanet,71289,Exact +GARD:0016687,OMIM,616738,BTNT +GARD:0016687,OMIM,605432,Exact +GARD:0016687,ICD-10,Q87.2,NTBT +GARD:0016687,UMLS,C1854273,Exact +GARD:0016687,SNOMED-CT,721882001,NA +GARD:0016688,SNOMED-CT,720950009,NA +GARD:0016688,Orphanet,71493,Exact +GARD:0016688,ICD-10,D68.8,NTBT +GARD:0016688,OMIM,614521,NTBT +GARD:0016688,OMIM,187950,NTBT +GARD:0016688,OMIM,601977,NTBT +GARD:0016688,ICD-11,3B63.0,Exact +GARD:0016689,SNOMED-CT,722053001,NA +GARD:0016689,Orphanet,71528,Exact +GARD:0016689,OMIM,600955,Exact +GARD:0016689,ICD-10,E66.8,NTBT +GARD:0016690,Orphanet,71529,Exact +GARD:0016690,OMIM,601665,NTBT +GARD:0016690,ICD-10,E66.8,NTBT +GARD:0016690,OMIM,618406,NTBT +GARD:0016690,SNOMED-CT,717269008,NA +GARD:0016691,SNOMED-CT,782934004,NA +GARD:0016691,Orphanet,73271,Exact +GARD:0016691,ICD-10,D69.8,NTBT +GARD:0016691,OMIM,614200,BTNT +GARD:0016691,OMIM,614201,BTNT +GARD:0016692,Orphanet,75249,Exact +GARD:0016692,OMIM,615248,NTBT +GARD:0016692,OMIM,617047,NTBT +GARD:0016692,ICD-10,I42.5,Exact +GARD:0016692,OMIM,612422,BTNT +GARD:0016692,OMIM,115210,BTNT +GARD:0016692,ICD-11,BC43.2Y,NTBT +GARD:0016692,OMIM,609578,BTNT +GARD:0016692,SNOMED-CT,233878008,NA +GARD:0016693,Orphanet,75326,Exact +GARD:0016693,OMIM,180000,Exact +GARD:0016693,ICD-10,H35.8,NTBT +GARD:0016694,SNOMED-CT,312921000,NA +GARD:0016694,Orphanet,75381,Exact +GARD:0016694,ICD-10,H35.5,NTBT +GARD:0016694,OMIM,153880,Exact +GARD:0016695,Orphanet,75391,Exact +GARD:0016695,OMIM,609981,Exact +GARD:0016695,ICD-10,D84.8,NTBT +GARD:0016695,SNOMED-CT,724275005,NA +GARD:0016696,Orphanet,79076,Exact +GARD:0016696,OMIM,175050,NTBT +GARD:0016696,OMIM,612242,NTBT +GARD:0016696,ICD-10,D12.6,NTBT +GARD:0016697,SNOMED-CT,717824007,NA +GARD:0016697,Orphanet,79094,Exact +GARD:0016697,UMLS,C1865267,Exact +GARD:0016697,OMIM,602531,Exact +GARD:0016697,ICD-10,Q87.8,NTBT +GARD:0016698,Orphanet,79106,Exact +GARD:0016698,ICD-10,M85.8,NTBT +GARD:0016698,UMLS,C1838779,Exact +GARD:0016698,OMIM,600002,Exact +GARD:0016698,SNOMED-CT,720863002,NA +GARD:0016699,SNOMED-CT,724094005,NA +GARD:0016699,Orphanet,79118,Exact +GARD:0016699,ICD-10,Q61.1,NTBT +GARD:0016699,OMIM,610199,Exact +GARD:0016700,Orphanet,79128,Exact +GARD:0016700,ICD-10,J84.1,NTBT +GARD:0016700,UMLS,C0264511,Exact +GARD:0016700,ICD-11,CB03.5,Exact +GARD:0016700,OMIM,247610,Exact +GARD:0016700,MedDRA,10062997,Exact +GARD:0016700,SNOMED-CT,44274007,NA +GARD:0016701,Orphanet,79134,Exact +GARD:0016701,OMIM,606176,NTBT +GARD:0016701,ICD-10,P70.2,NTBT +GARD:0016701,UMLS,C1853564,Exact +GARD:0016701,SNOMED-CT,721088003,NA +GARD:0016702,Orphanet,79135,Exact +GARD:0016702,OMIM,606554,Exact +GARD:0016702,ICD-10,G11.8,NTBT +GARD:0016702,UMLS,C1847839,Exact +GARD:0016702,SNOMED-CT,718755009,NA +GARD:0016703,SNOMED-CT,718754008,NA +GARD:0016703,Orphanet,79136,Exact +GARD:0016703,UMLS,C1847843,Exact +GARD:0016703,OMIM,606552,Exact +GARD:0016703,ICD-10,G11.8,NTBT +GARD:0016704,SNOMED-CT,715629001,NA +GARD:0016704,Orphanet,79137,Exact +GARD:0016704,UMLS,C1836173,Exact +GARD:0016704,ICD-10,G40.3,NTBT +GARD:0016704,OMIM,609446,Exact +GARD:0016705,Orphanet,79141,Exact +GARD:0016705,SNOMED-CT,403793002,NA +GARD:0016705,OMIM,114140,Exact +GARD:0016705,UMLS,C1861964,Exact +GARD:0016705,ICD-10,Q82.8,NTBT +GARD:0016706,Orphanet,79146,Exact +GARD:0016706,OMIM,145250,BTNT +GARD:0016706,UMLS,C1835039,Exact +GARD:0016706,ICD-10,L81.4,NTBT +GARD:0016706,UMLS,C1840392,Exact +GARD:0016706,OMIM,614233,Exact +GARD:0016706,SNOMED-CT,715630006,NA +GARD:0016707,Orphanet,79151,Exact +GARD:0016707,OMIM,101900,Exact +GARD:0016707,MedDRA,10069445,Exact +GARD:0016707,UMLS,C0265971,Exact +GARD:0016707,ICD-10,Q82.8,NTBT +GARD:0016707,SNOMED-CT,400085009,NA +GARD:0016708,Orphanet,79154,Exact +GARD:0016708,ICD-10,E72.3,NTBT +GARD:0016708,OMIM,204750,Exact +GARD:0016708,SNOMED-CT,782918002,NA +GARD:0016709,Orphanet,79156,Exact +GARD:0016709,ICD-10,E72.3,NTBT +GARD:0016709,OMIM,236900,Exact +GARD:0016709,SNOMED-CT,723994004,NA +GARD:0016710,SNOMED-CT,238007004,NA +GARD:0016710,Orphanet,79233,Exact +GARD:0016710,OMIM,300323,Exact +GARD:0016710,UMLS,C0268117,Exact +GARD:0016710,ICD-10,E79.8,NTBT +GARD:0016711,SNOMED-CT,297254006,NA +GARD:0016711,Orphanet,79240,Exact +GARD:0016711,UMLS,C0543514,Exact +GARD:0016711,ICD-10,E74.0,NTBT +GARD:0016711,OMIM,261750,Exact +GARD:0016712,Orphanet,79244,Exact +GARD:0016712,ICD-10,E74.4,NTBT +GARD:0016712,UMLS,C1855565,Exact +GARD:0016712,OMIM,245348,Exact +GARD:0016713,SNOMED-CT,719454003,NA +GARD:0016713,Orphanet,79302,Exact +GARD:0016713,UMLS,C3151147,Exact +GARD:0016713,OMIM,613812,Exact +GARD:0016713,MeSH,C566340,Exact +GARD:0016713,ICD-10,K76.8,NTBT +GARD:0016714,SNOMED-CT,237946002,NA +GARD:0016714,Orphanet,79312,Exact +GARD:0016714,ICD-10,E71.1,NTBT +GARD:0016714,OMIM,251000,NTBT +GARD:0016715,Orphanet,79346,Exact +GARD:0016715,OMIM,118651,Exact +GARD:0016715,UMLS,C0432224,Exact +GARD:0016715,ICD-10,Q77.3,NTBT +GARD:0016715,SNOMED-CT,254083002,NA +GARD:0016716,Orphanet,79347,Exact +GARD:0016716,OMIM,215105,Exact +GARD:0016716,ICD-10,Q77.3,NTBT +GARD:0016716,SNOMED-CT,715631005,NA +GARD:0016717,SNOMED-CT,124432005,NA +GARD:0016717,Orphanet,79350,Exact +GARD:0016717,OMIM,614023,Exact +GARD:0016717,ICD-10,E72.8,NTBT +GARD:0016718,SNOMED-CT,303098002,NA +GARD:0016718,Orphanet,79351,Exact +GARD:0016718,ICD-10,E72.8,NTBT +GARD:0016718,OMIM,601815,Exact +GARD:0016718,UMLS,C0580190,Exact +GARD:0016719,SNOMED-CT,717183001,NA +GARD:0016719,Orphanet,79395,Exact +GARD:0016719,OMIM,604117,Exact +GARD:0016719,ICD-10,Q82.8,NTBT +GARD:0016719,UMLS,C1858805,Exact +GARD:0016720,Orphanet,79409,Exact +GARD:0016720,ICD-10,Q81.2,NTBT +GARD:0016720,OMIM,226600,NTBT +GARD:0016721,Orphanet,79431,Exact +GARD:0016721,OMIM,203100,Exact +GARD:0016721,ICD-10,E70.3,NTBT +GARD:0016722,Orphanet,79435,Exact +GARD:0016722,OMIM,606574,Exact +GARD:0016722,UMLS,C1847836,Exact +GARD:0016722,ICD-10,E70.3,NTBT +GARD:0016722,SNOMED-CT,715632003,NA +GARD:0016723,Orphanet,79457,Exact +GARD:0016723,ICD-10,Q82.2,NTBT +GARD:0016723,MedDRA,10046752,Exact +GARD:0016723,UMLS,C0042111,Exact +GARD:0016723,OMIM,154800,NTBT +GARD:0016723,MeSH,D014582,Exact +GARD:0016723,SNOMED-CT,78745000,NA +GARD:0016724,SNOMED-CT,15771000119109,NA +GARD:0016724,Orphanet,79506,Exact +GARD:0016724,UMLS,C0342883,Exact +GARD:0016724,ICD-10,E78.4,NTBT +GARD:0016724,OMIM,614028,BTNT +GARD:0016724,OMIM,143470,Exact +GARD:0016725,SNOMED-CT,717185008,NA +GARD:0016725,Orphanet,79507,Exact +GARD:0016725,ICD-10,E88.8,NTBT +GARD:0016725,UMLS,C3279662,Exact +GARD:0016725,OMIM,614037,Exact +GARD:0016726,SNOMED-CT,783767001,NA +GARD:0016726,Orphanet,79643,Exact +GARD:0016726,ICD-10,E16.1,NTBT +GARD:0016726,OMIM,256450,NTBT +GARD:0016727,SNOMED-CT,783768006,NA +GARD:0016727,Orphanet,79644,Exact +GARD:0016727,ICD-10,E16.1,NTBT +GARD:0016727,OMIM,601820,NTBT +GARD:0016728,Orphanet,83454,Exact +GARD:0016728,OMIM,138000,Exact +GARD:0016728,SNOMED-CT,715644000,NA +GARD:0016728,ICD-10,Q27.8,NTBT +GARD:0016728,UMLS,C1841984,Exact +GARD:0016728,MedDRA,10018381,Exact +GARD:0016728,MeSH,C536827,Exact +GARD:0016729,SNOMED-CT,722392003,NA +GARD:0016729,Orphanet,83620,Exact +GARD:0016729,OMIM,610370,Exact +GARD:0016729,ICD-10,P78.3,NTBT +GARD:0016730,Orphanet,84081,Exact +GARD:0016730,OMIM,613550,BTNT +GARD:0016730,ICD-10,Q61.8,NTBT +GARD:0016730,OMIM,616217,BTNT +GARD:0016730,SNOMED-CT,717187000,NA +GARD:0016731,Orphanet,84093,Exact +GARD:0016731,SNOMED-CT,715645004,NA +GARD:0016731,UMLS,C1865856,Exact +GARD:0016731,ICD-10,G60.0,NTBT +GARD:0016731,OMIM,602107,Exact +GARD:0016732,SNOMED-CT,715646003,NA +GARD:0016732,Orphanet,84132,Exact +GARD:0016732,OMIM,602771,NTBT +GARD:0016732,ICD-10,G71.8,NTBT +GARD:0016733,Orphanet,85112,Exact +GARD:0016733,OMIM,610644,Exact +GARD:0016733,ICD-10,Q56.0,NTBT +GARD:0016733,SNOMED-CT,722202006,NA +GARD:0016734,Orphanet,85128,Exact +GARD:0016734,UMLS,C1843816,Exact +GARD:0016734,OMIM,607475,Exact +GARD:0016734,ICD-10,H35.5,NTBT +GARD:0016734,SNOMED-CT,715647007,NA +GARD:0016735,Orphanet,85169,Exact +GARD:0016735,OMIM,606835,Exact +GARD:0016735,ICD-10,M06.8,NTBT +GARD:0016735,UMLS,C1847406,Exact +GARD:0016735,SNOMED-CT,717192003,NA +GARD:0016736,SNOMED-CT,723404002,NA +GARD:0016736,Orphanet,85172,Exact +GARD:0016736,ICD-10,Q78.8,NTBT +GARD:0016736,OMIM,618150,Exact +GARD:0016737,Orphanet,85184,Exact +GARD:0016737,OMIM,269300,Exact +GARD:0016737,ICD-10,Q78.8,NTBT +GARD:0016737,SNOMED-CT,725099009,NA +GARD:0016738,SNOMED-CT,717221005,NA +GARD:0016738,Orphanet,85188,Exact +GARD:0016738,UMLS,C1853825,Exact +GARD:0016738,ICD-10,Q78.5,NTBT +GARD:0016738,OMIM,605946,Exact +GARD:0016739,SNOMED-CT,720598005,NA +GARD:0016739,Orphanet,85192,Exact +GARD:0016739,UMLS,C1852022,Exact +GARD:0016739,ICD-10,M85.8,NTBT +GARD:0016739,OMIM,126550,Exact +GARD:0016740,SNOMED-CT,715653007,NA +GARD:0016740,Orphanet,85194,Exact +GARD:0016740,UMLS,C1853925,Exact +GARD:0016740,ICD-10,Q87.5,NTBT +GARD:0016740,OMIM,605822,Exact +GARD:0016741,Orphanet,85197,Exact +GARD:0016741,ICD-10,Q78.4,NTBT +GARD:0016741,OMIM,137360,NTBT +GARD:0016741,UMLS,C1300229,Exact +GARD:0016741,SNOMED-CT,389264005,NA +GARD:0016742,Orphanet,85276,Exact +GARD:0016742,SNOMED-CT,719017003,NA +GARD:0016742,UMLS,C1846057,Exact +GARD:0016742,ICD-10,Q87.8,NTBT +GARD:0016742,OMIM,300261,Exact +GARD:0016743,SNOMED-CT,719016007,NA +GARD:0016743,Orphanet,85277,Exact +GARD:0016743,ICD-10,Q87.8,NTBT +GARD:0016743,OMIM,300912,Exact +GARD:0016744,SNOMED-CT,719161008,NA +GARD:0016744,Orphanet,85279,Exact +GARD:0016744,OMIM,300534,Exact +GARD:0016744,UMLS,C1845243,Exact +GARD:0016744,ICD-10,Q87.8,NTBT +GARD:0016745,SNOMED-CT,719138006,NA +GARD:0016745,Orphanet,85280,Exact +GARD:0016745,ICD-10,Q87.8,NTBT +GARD:0016745,UMLS,C1845450,Exact +GARD:0016745,OMIM,300471,Exact +GARD:0016746,Orphanet,85284,Exact +GARD:0016746,SNOMED-CT,717945001,NA +GARD:0016746,UMLS,C3502469,Exact +GARD:0016746,OMIM,308205,NTBT +GARD:0016746,ICD-10,Q87.8,NTBT +GARD:0016747,SNOMED-CT,719009006,NA +GARD:0016747,Orphanet,85290,Exact +GARD:0016747,OMIM,309545,Exact +GARD:0016747,ICD-10,Q87.8,NTBT +GARD:0016748,Orphanet,85294,Exact +GARD:0016748,UMLS,C1845343,Exact +GARD:0016748,ICD-10,Q87.8,NTBT +GARD:0016748,OMIM,300491,Exact +GARD:0016748,SNOMED-CT,717223008,NA +GARD:0016749,Orphanet,85295,Exact +GARD:0016749,ICD-10,G25.5,NTBT +GARD:0016749,OMIM,300438,NTBT +GARD:0016750,Orphanet,85321,Exact +GARD:0016750,SNOMED-CT,721087008,NA +GARD:0016750,ICD-10,Q87.8,NTBT +GARD:0016750,UMLS,C1845285,Exact +GARD:0016750,OMIM,300519,Exact +GARD:0016751,Orphanet,85324,Exact +GARD:0016751,OMIM,300709,Exact +GARD:0016751,ICD-10,Q87.8,NTBT +GARD:0016751,SNOMED-CT,718905007,NA +GARD:0016752,Orphanet,85329,Exact +GARD:0016752,ICD-10,Q87.8,NTBT +GARD:0016752,OMIM,304340,NTBT +GARD:0016752,SNOMED-CT,719157002,NA +GARD:0016753,Orphanet,85335,Exact +GARD:0016753,ICD-10,Q87.8,NTBT +GARD:0016753,OMIM,304340,NTBT +GARD:0016753,SNOMED-CT,718848000,NA +GARD:0016754,Orphanet,85447,Exact +GARD:0016754,ICD-10,E85.1+,NTBT +GARD:0016754,SNOMED-CT,42295001,NA +GARD:0016754,OMIM,105210,Exact +GARD:0016754,ICD-10,G63.3*,Exact +GARD:0016754,UMLS,C0206245,Exact +GARD:0016755,Orphanet,85451,Exact +GARD:0016755,ICD-10,I43.1*,NTBT +GARD:0016755,OMIM,105210,NTBT +GARD:0016755,ICD-10,E85.4+,NTBT +GARD:0016755,SNOMED-CT,715655000,NA +GARD:0016756,Orphanet,85453,Exact +GARD:0016756,ICD-10,L99.0*,NTBT +GARD:0016756,UMLS,C0796250,Exact +GARD:0016756,OMIM,301220,Exact +GARD:0016756,UMLS,C1845050,Exact +GARD:0016756,ICD-10,E85.0+,NTBT +GARD:0016756,SNOMED-CT,717224002,NA +GARD:0016757,Orphanet,86813,Exact +GARD:0016757,UMLS,C1862382,Exact +GARD:0016757,OMIM,108985,Exact +GARD:0016757,ICD-10,H31.2,NTBT +GARD:0016757,SNOMED-CT,724384008,NA +GARD:0016758,Orphanet,86814,Exact +GARD:0016758,OMIM,613608,BTNT +GARD:0016758,OMIM,615400,BTNT +GARD:0016758,OMIM,615127,BTNT +GARD:0016758,OMIM,607876,BTNT +GARD:0016758,ICD-10,G40.3,NTBT +GARD:0016758,ICD-11,8A61.32,Exact +GARD:0016758,OMIM,601068,Exact +GARD:0016758,SNOMED-CT,717225001,NA +GARD:0016759,Orphanet,86815,Exact +GARD:0016759,ICD-10,Q38.4,ND (not yet decided/unable to decide) +GARD:0016759,ICD-11,LA14.10,Exact +GARD:0016759,UMLS,C0158667,Exact +GARD:0016759,OMIM,180920,Exact +GARD:0016759,ICD-10,Q10.4,ND (not yet decided/unable to decide) +GARD:0016759,SNOMED-CT,715656004,NA +GARD:0016760,Orphanet,86817,Exact +GARD:0016760,SNOMED-CT,766982000,NA +GARD:0016760,ICD-10,D55.3,NTBT +GARD:0016760,UMLS,C2675459,Exact +GARD:0016760,OMIM,612631,Exact +GARD:0016761,Orphanet,86818,Exact +GARD:0016761,UMLS,C1846242,Exact +GARD:0016761,OMIM,300990,NTBT +GARD:0016761,ICD-10,Q87.8,NTBT +GARD:0016761,OMIM,300194,Exact +GARD:0016761,SNOMED-CT,720982007,NA +GARD:0016762,SNOMED-CT,715963002,NA +GARD:0016762,Orphanet,86819,Exact +GARD:0016762,OMIM,209500,Exact +GARD:0016762,ICD-10,L65.8,NTBT +GARD:0016762,UMLS,C1859592,Exact +GARD:0016763,Orphanet,86822,Exact +GARD:0016763,OMIM,601160,Exact +GARD:0016763,ICD-10,Q04.3,NTBT +GARD:0016763,SNOMED-CT,718720007,NA +GARD:0016764,SNOMED-CT,780817000,NA +GARD:0016764,Orphanet,86830,Exact +GARD:0016764,OMIM,131440,BTNT +GARD:0016764,ICD-10,D47.1,NTBT +GARD:0016765,SNOMED-CT,715664005,NA +GARD:0016765,Orphanet,86900,Exact +GARD:0016765,OMIM,267730,Exact +GARD:0016765,ICD-10,C96.4,NTBT +GARD:0016765,UMLS,C1260326,Exact +GARD:0016765,ICD-11,2B31.4,Exact +GARD:0016765,MeSH,D054739,Exact +GARD:0016765,MedDRA,10038804,Exact +GARD:0016765,UMLS,C0024302,Exact +GARD:0016766,SNOMED-CT,724224007,NA +GARD:0016766,Orphanet,86919,Exact +GARD:0016766,UMLS,C1835663,Exact +GARD:0016766,ICD-10,Q82.8,NTBT +GARD:0016766,OMIM,148520,Exact +GARD:0016767,Orphanet,86923,Exact +GARD:0016767,UMLS,C1855644,Exact +GARD:0016767,OMIM,244850,Exact +GARD:0016767,ICD-10,Q82.8,NTBT +GARD:0016767,SNOMED-CT,717228004,NA +GARD:0016768,SNOMED-CT,85049009,NA +GARD:0016768,Orphanet,88629,Exact +GARD:0016768,UMLS,C0155017,Exact +GARD:0016768,ICD-10,H53.5,NTBT +GARD:0016768,OMIM,190900,Exact +GARD:0016769,Orphanet,88630,Exact +GARD:0016769,ICD-10,Q87.2,NTBT +GARD:0016769,OMIM,300244,Exact +GARD:0016769,UMLS,C1846129,Exact +GARD:0016769,SNOMED-CT,723578001,NA +GARD:0016770,SNOMED-CT,724095006,NA +GARD:0016770,Orphanet,88635,Exact +GARD:0016770,OMIM,616231,Exact +GARD:0016770,ICD-10,G71.8,NTBT +GARD:0016771,Orphanet,88637,Exact +GARD:0016771,UMLS,C2676243,Exact +GARD:0016771,ICD-10,G11.1,NTBT +GARD:0016771,OMIM,607694,NTBT +GARD:0016771,OMIM,614381,BTNT +GARD:0016771,OMIM,616494,BTNT +GARD:0016771,SNOMED-CT,721846006,NA +GARD:0016772,SNOMED-CT,703310005,NA +GARD:0016772,Orphanet,88659,Exact +GARD:0016772,ICD-10,I15.1,NTBT +GARD:0016772,OMIM,161900,Exact +GARD:0016773,Orphanet,88673,Exact +GARD:0016773,MedDRA,10049010,Exact +GARD:0016773,MeSH,D006528,Exact +GARD:0016773,ICD-10,C22.0,Exact +GARD:0016773,ICD-11,2C12.02,Exact +GARD:0016773,OMIM,114550,Exact +GARD:0016773,UMLS,C2239176,Exact +GARD:0016773,SNOMED-CT,109841003,NA +GARD:0016774,Orphanet,88917,Exact +GARD:0016774,UMLS,C1567742,Exact +GARD:0016774,ICD-10,Q87.8,NTBT +GARD:0016774,MedDRA,10001843,Exact +GARD:0016774,OMIM,301050,Exact +GARD:0016774,SNOMED-CT,717768004,NA +GARD:0016775,Orphanet,88938,Exact +GARD:0016775,OMIM,145260,Exact +GARD:0016775,ICD-10,I15.1,NTBT +GARD:0016775,UMLS,C1840389,Exact +GARD:0016776,Orphanet,88939,Exact +GARD:0016776,ICD-10,I15.1,NTBT +GARD:0016776,UMLS,C1840390,Exact +GARD:0016776,OMIM,614491,Exact +GARD:0016777,Orphanet,88940,Exact +GARD:0016777,ICD-10,I15.1,NTBT +GARD:0016777,UMLS,C1840391,Exact +GARD:0016777,OMIM,614492,Exact +GARD:0016778,Orphanet,89838,Exact +GARD:0016778,OMIM,601001,Exact +GARD:0016778,ICD-10,Q81.0,NTBT +GARD:0016778,SNOMED-CT,724206005,NA +GARD:0016779,SNOMED-CT,403810008,NA +GARD:0016779,Orphanet,89843,Exact +GARD:0016779,UMLS,C1275114,Exact +GARD:0016779,ICD-10,Q81.2,NTBT +GARD:0016779,OMIM,604129,Exact +GARD:0016780,Orphanet,89844,Exact +GARD:0016780,OMIM,257320,Exact +GARD:0016780,ICD-10,Q04.3,NTBT +GARD:0016780,MeSH,C537848,Exact +GARD:0016780,UMLS,C0796089,Exact +GARD:0016780,SNOMED-CT,717977003,NA +GARD:0016781,SNOMED-CT,237889002,NA +GARD:0016781,Orphanet,89937,Exact +GARD:0016781,UMLS,C1704375,Exact +GARD:0016781,OMIM,193100,Exact +GARD:0016781,UMLS,C0342642,Exact +GARD:0016781,ICD-10,E83.3,NTBT +GARD:0016782,Orphanet,90001,Exact +GARD:0016782,UMLS,C3159311,Exact +GARD:0016782,OMIM,300843,Exact +GARD:0016782,ICD-10,H53.8,NTBT +GARD:0016782,SNOMED-CT,718718009,NA +GARD:0016783,Orphanet,90023,Exact +GARD:0016783,ICD-10,D82.8,NTBT +GARD:0016783,OMIM,610798,Exact +GARD:0016783,UMLS,C1835829,Exact +GARD:0016783,SNOMED-CT,718717004,NA +GARD:0016784,Orphanet,90030,Exact +GARD:0016784,OMIM,618667,BTNT +GARD:0016784,ICD-10,D55.1,NTBT +GARD:0016784,OMIM,618660,Exact +GARD:0016784,SNOMED-CT,52212006,NA +GARD:0016785,Orphanet,90044,Exact +GARD:0016785,OMIM,609153,Exact +GARD:0016785,ICD-10,D58.8,NTBT +GARD:0016785,UMLS,C1836705,Exact +GARD:0016785,ICD-11,3A10.3,Exact +GARD:0016785,SNOMED-CT,717254007,NA +GARD:0016786,SNOMED-CT,763136000,NA +GARD:0016786,Orphanet,90103,Exact +GARD:0016786,ICD-10,G60.0,NTBT +GARD:0016786,OMIM,214370,Exact +GARD:0016787,Orphanet,90120,Exact +GARD:0016787,ICD-10,G60.0,NTBT +GARD:0016787,OMIM,616505,BTNT +GARD:0016787,OMIM,601152,Exact +GARD:0016787,UMLS,C0393807,Exact +GARD:0016787,SNOMED-CT,128203003,NA +GARD:0016788,Orphanet,90308,Exact +GARD:0016788,OMIM,149000,NTBT +GARD:0016788,ICD-10,Q87.2,NTBT +GARD:0016788,MedDRA,10051452,Exact +GARD:0016789,Orphanet,90368,Exact +GARD:0016789,ICD-10,L65.8,NTBT +GARD:0016789,OMIM,613981,BTNT +GARD:0016789,OMIM,146520,BTNT +GARD:0016789,SNOMED-CT,717256009,NA +GARD:0016789,UMLS,C1840299,Exact +GARD:0016790,Orphanet,90625,Exact +GARD:0016790,OMIM,300914,BTNT +GARD:0016790,OMIM,300030,BTNT +GARD:0016790,ICD-10,H90.3,NTBT +GARD:0016790,OMIM,300066,BTNT +GARD:0016790,OMIM,304500,BTNT +GARD:0016791,Orphanet,90635,Exact +GARD:0016791,OMIM,616357,BTNT +GARD:0016791,OMIM,608641,BTNT +GARD:0016791,OMIM,615649,BTNT +GARD:0016791,OMIM,600994,BTNT +GARD:0016791,OMIM,601412,BTNT +GARD:0016791,OMIM,608394,BTNT +GARD:0016791,OMIM,616044,BTNT +GARD:0016791,OMIM,603622,BTNT +GARD:0016791,OMIM,601543,BTNT +GARD:0016791,OMIM,606705,BTNT +GARD:0016791,OMIM,601317,BTNT +GARD:0016791,OMIM,607017,BTNT +GARD:0016791,OMIM,618778,BTNT +GARD:0016791,OMIM,614152,BTNT +GARD:0016791,OMIM,616968,BTNT +GARD:0016791,OMIM,603964,BTNT +GARD:0016791,OMIM,618094,BTNT +GARD:0016791,OMIM,606012,BTNT +GARD:0016791,OMIM,618915,BTNT +GARD:0016791,OMIM,616340,BTNT +GARD:0016791,OMIM,618140,BTNT +GARD:0016791,OMIM,612642,BTNT +GARD:0016791,OMIM,608224,BTNT +GARD:0016791,OMIM,616969,BTNT +GARD:0016791,OMIM,601868,BTNT +GARD:0016791,OMIM,619086,BTNT +GARD:0016791,OMIM,617605,BTNT +GARD:0016791,OMIM,619274,BTNT +GARD:0016791,OMIM,601544,BTNT +GARD:0016791,OMIM,612644,BTNT +GARD:0016791,OMIM,605192,BTNT +GARD:0016791,OMIM,612431,BTNT +GARD:0016791,OMIM,600101,BTNT +GARD:0016791,OMIM,616697,BTNT +GARD:0016791,OMIM,614211,BTNT +GARD:0016791,OMIM,619081,BTNT +GARD:0016791,OMIM,600652,BTNT +GARD:0016791,OMIM,607841,BTNT +GARD:0016791,OMIM,617606,BTNT +GARD:0016791,OMIM,609965,BTNT +GARD:0016791,OMIM,618410,BTNT +GARD:0016791,OMIM,613074,BTNT +GARD:0016791,ICD-10,H90.3,NTBT +GARD:0016791,OMIM,613558,BTNT +GARD:0016791,OMIM,615654,BTNT +GARD:0016791,OMIM,606451,BTNT +GARD:0016791,SNOMED-CT,232328005,NA +GARD:0016791,OMIM,609129,BTNT +GARD:0016791,OMIM,607683,BTNT +GARD:0016791,OMIM,606282,BTNT +GARD:0016791,OMIM,608645,BTNT +GARD:0016791,OMIM,612643,BTNT +GARD:0016791,OMIM,606346,BTNT +GARD:0016791,OMIM,601316,BTNT +GARD:0016791,OMIM,605583,BTNT +GARD:0016791,OMIM,608372,BTNT +GARD:0016791,OMIM,607197,BTNT +GARD:0016791,OMIM,601369,BTNT +GARD:0016791,OMIM,617663,BTNT +GARD:0016791,OMIM,618787,BTNT +GARD:0016791,OMIM,600965,BTNT +GARD:0016791,OMIM,615629,BTNT +GARD:0016791,OMIM,602459,BTNT +GARD:0016791,OMIM,608652,BTNT +GARD:0016791,OMIM,607453,BTNT +GARD:0016791,OMIM,614614,BTNT +GARD:0016791,OMIM,604717,BTNT +GARD:0016791,OMIM,616707,BTNT +GARD:0016792,Orphanet,90641,Exact +GARD:0016792,OMIM,580000,BTNT +GARD:0016792,OMIM,304400,BTNT +GARD:0016792,OMIM,500008,Exact +GARD:0016792,UMLS,C1857332,Exact +GARD:0016792,ICD-10,H90.3,NTBT +GARD:0016792,OMIM,221745,BTNT +GARD:0016793,Orphanet,90673,Exact +GARD:0016793,ICD-10,E03.1,NTBT +GARD:0016793,OMIM,275200,Exact +GARD:0016794,Orphanet,90796,Exact +GARD:0016794,OMIM,202110,NTBT +GARD:0016794,ICD-10,E29.1,NTBT +GARD:0016794,UMLS,C0268285,Exact +GARD:0016795,Orphanet,91130,Exact +GARD:0016795,UMLS,C1835845,Exact +GARD:0016795,OMIM,610773,Exact +GARD:0016795,ICD-10,G71.3,NTBT +GARD:0016795,SNOMED-CT,718713000,NA +GARD:0016796,Orphanet,91135,Exact +GARD:0016796,SNOMED-CT,717941005,NA +GARD:0016796,ICD-10,D68.4,NTBT +GARD:0016796,UMLS,C1835813,Exact +GARD:0016796,OMIM,610842,Exact +GARD:0016797,Orphanet,91396,Exact +GARD:0016797,ICD-11,LA14.01,Exact +GARD:0016797,OMIM,123570,Exact +GARD:0016797,UMLS,C0311249,Exact +GARD:0016797,ICD-10,Q11.2,NTBT +GARD:0016797,UMLS,C1852453,Exact +GARD:0016797,SNOMED-CT,718691008,NA +GARD:0016798,SNOMED-CT,268163008,NA +GARD:0016798,Orphanet,91411,Exact +GARD:0016798,OMIM,178300,Exact +GARD:0016798,MedDRA,10015996,Exact +GARD:0016798,OMIM,616219,ND (not yet decided/unable to decide) +GARD:0016798,OMIM,300245,BTNT +GARD:0016798,ICD-11,LA14.04,Exact +GARD:0016798,UMLS,C0266573,Exact +GARD:0016798,ICD-10,Q10.0,Exact +GARD:0016799,Orphanet,91416,Exact +GARD:0016799,OMIM,103420,BTNT +GARD:0016799,UMLS,C1863199,Exact +GARD:0016799,OMIM,601549,BTNT +GARD:0016799,SNOMED-CT,717262004,NA +GARD:0016799,ICD-10,Q10.6,NTBT +GARD:0016800,SNOMED-CT,95479005,NA +GARD:0016800,Orphanet,91490,Exact +GARD:0016800,UMLS,C1866984,Exact +GARD:0016800,ICD-11,LA11.1,NTBT +GARD:0016800,ICD-10,Q13.3,Exact +GARD:0016800,OMIM,181700,BTNT +GARD:0016801,Orphanet,91492,Exact +GARD:0016801,OMIM,616509,BTNT +GARD:0016801,OMIM,610019,BTNT +GARD:0016801,OMIM,614691,BTNT +GARD:0016801,OMIM,611597,NTBT +GARD:0016801,OMIM,610623,BTNT +GARD:0016801,OMIM,607304,BTNT +GARD:0016801,OMIM,615188,BTNT +GARD:0016801,OMIM,610202,BTNT +GARD:0016801,OMIM,600881,BTNT +GARD:0016801,OMIM,609741,BTNT +GARD:0016801,OMIM,115700,BTNT +GARD:0016801,OMIM,611391,BTNT +GARD:0016801,OMIM,605387,BTNT +GARD:0016801,OMIM,614422,BTNT +GARD:0016801,OMIM,115800,BTNT +GARD:0016801,OMIM,115665,BTNT +GARD:0016801,OMIM,212500,BTNT +GARD:0016801,OMIM,116800,BTNT +GARD:0016801,OMIM,616279,BTNT +GARD:0016801,OMIM,605728,BTNT +GARD:0016801,OMIM,604219,BTNT +GARD:0016801,OMIM,604307,BTNT +GARD:0016801,OMIM,610425,BTNT +GARD:0016801,OMIM,616851,BTNT +GARD:0016801,OMIM,116700,BTNT +GARD:0016801,OMIM,601885,BTNT +GARD:0016801,OMIM,115650,BTNT +GARD:0016801,OMIM,613763,BTNT +GARD:0016801,OMIM,302200,BTNT +GARD:0016801,OMIM,615274,BTNT +GARD:0016801,OMIM,611544,BTNT +GARD:0016801,OMIM,116200,BTNT +GARD:0016801,OMIM,116400,BTNT +GARD:0016801,OMIM,601547,BTNT +GARD:0016801,ICD-11,LA12.1,Exact +GARD:0016801,OMIM,116600,BTNT +GARD:0016801,OMIM,116100,BTNT +GARD:0016801,OMIM,116300,BTNT +GARD:0016801,OMIM,601202,BTNT +GARD:0016801,OMIM,115900,BTNT +GARD:0016801,OMIM,115660,BTNT +GARD:0016801,OMIM,605749,BTNT +GARD:0016801,ICD-10,Q12.0,Exact +GARD:0016801,OMIM,609376,BTNT +GARD:0016801,OMIM,615277,BTNT +GARD:0016801,SNOMED-CT,79410001,NA +GARD:0016802,Orphanet,91494,Exact +GARD:0016802,ICD-10,Q87.8,NTBT +GARD:0016802,OMIM,216800,Exact +GARD:0016802,SNOMED-CT,722463001,NA +GARD:0016803,SNOMED-CT,314270008,NA +GARD:0016803,Orphanet,91495,Exact +GARD:0016803,UMLS,C1857299,Exact +GARD:0016803,OMIM,221900,BTNT +GARD:0016803,MeSH,D054514,Exact +GARD:0016803,OMIM,611308,BTNT +GARD:0016803,ICD-10,Q14.0,NTBT +GARD:0016803,UMLS,C0266568,Exact +GARD:0016804,Orphanet,93100,Exact +GARD:0016804,ICD-10,Q60.0,Exact +GARD:0016804,MedDRA,10053624,Exact +GARD:0016804,OMIM,617805,NTBT +GARD:0016804,UMLS,C0266294,Exact +GARD:0016804,ICD-11,LB30.00,NTBT +GARD:0016805,Orphanet,93160,Exact +GARD:0016805,OMIM,619073,BTNT +GARD:0016805,OMIM,600785,BTNT +GARD:0016805,UMLS,C3536983,Exact +GARD:0016805,ICD-10,E83.3,NTBT +GARD:0016805,OMIM,277440,BTNT +GARD:0016805,ICD-11,5C63.21,Exact +GARD:0016806,Orphanet,93256,Exact +GARD:0016806,UMLS,C1839780,Exact +GARD:0016806,ICD-10,G11.2,NTBT +GARD:0016806,OMIM,300623,Exact +GARD:0016806,UMLS,C3164069,Exact +GARD:0016806,SNOMED-CT,448045004,NA +GARD:0016807,Orphanet,93258,Exact +GARD:0016807,OMIM,101600,NTBT +GARD:0016807,ICD-10,Q87.0,NTBT +GARD:0016808,Orphanet,93259,Exact +GARD:0016808,OMIM,101600,NTBT +GARD:0016808,ICD-10,Q87.0,NTBT +GARD:0016809,Orphanet,93260,Exact +GARD:0016809,OMIM,101600,NTBT +GARD:0016809,ICD-10,Q87.0,NTBT +GARD:0016810,SNOMED-CT,702361006,NA +GARD:0016810,Orphanet,93262,Exact +GARD:0016810,OMIM,612247,Exact +GARD:0016810,ICD-10,Q75.1,NTBT +GARD:0016810,UMLS,C2677099,Exact +GARD:0016811,Orphanet,93267,Exact +GARD:0016811,UMLS,C1846671,Exact +GARD:0016811,ICD-10,Q87.8,NTBT +GARD:0016811,OMIM,607161,Exact +GARD:0016811,SNOMED-CT,717771007,NA +GARD:0016812,Orphanet,93279,Exact +GARD:0016812,SNOMED-CT,715670004,NA +GARD:0016812,OMIM,604864,Exact +GARD:0016812,ICD-10,Q77.7,NTBT +GARD:0016813,SNOMED-CT,719172003,NA +GARD:0016813,Orphanet,93282,Exact +GARD:0016813,UMLS,C2748515,Exact +GARD:0016813,ICD-10,Q77.7,NTBT +GARD:0016813,OMIM,612847,NTBT +GARD:0016814,SNOMED-CT,719203001,NA +GARD:0016814,Orphanet,93283,Exact +GARD:0016814,OMIM,608361,Exact +GARD:0016814,ICD-10,Q77.7,NTBT +GARD:0016814,UMLS,C1842149,Exact +GARD:0016815,Orphanet,93297,Exact +GARD:0016815,UMLS,C0542428,Exact +GARD:0016815,OMIM,200610,NTBT +GARD:0016815,SNOMED-CT,205483007,NA +GARD:0016815,ICD-10,Q77.0,NTBT +GARD:0016815,ICD-11,LD24.51,Exact +GARD:0016816,Orphanet,93302,Exact +GARD:0016816,OMIM,613678,Exact +GARD:0016816,UMLS,C3159322,Exact +GARD:0016816,SNOMED-CT,389165004,NA +GARD:0016816,ICD-10,Q76.3,NTBT +GARD:0016817,SNOMED-CT,715704001,NA +GARD:0016817,Orphanet,93334,Exact +GARD:0016817,OMIM,607324,BTNT +GARD:0016817,OMIM,615226,BTNT +GARD:0016817,OMIM,174200,BTNT +GARD:0016817,UMLS,C3887487,Exact +GARD:0016817,OMIM,263450,BTNT +GARD:0016817,OMIM,608562,BTNT +GARD:0016817,OMIM,602085,BTNT +GARD:0016817,OMIM,618498,BTNT +GARD:0016817,OMIM,618219,BTNT +GARD:0016817,ICD-10,Q69.0,NTBT +GARD:0016818,SNOMED-CT,715707008,NA +GARD:0016818,Orphanet,93335,Exact +GARD:0016818,ICD-10,Q69.0,NTBT +GARD:0016818,OMIM,174200,NTBT +GARD:0016818,UMLS,C1868120,Exact +GARD:0016819,SNOMED-CT,717330004,NA +GARD:0016819,Orphanet,93351,Exact +GARD:0016819,UMLS,C0432213,Exact +GARD:0016819,OMIM,271650,Exact +GARD:0016819,ICD-10,Q77.7,NTBT +GARD:0016820,Orphanet,93398,Exact +GARD:0016820,OMIM,137360,NTBT +GARD:0016820,ICD-10,Q78.4,NTBT +GARD:0016820,SNOMED-CT,725904009,NA +GARD:0016821,Orphanet,93409,Exact +GARD:0016821,ICD-10,Q73.8,NTBT +GARD:0016821,OMIM,610713,Exact +GARD:0016821,SNOMED-CT,720572004,NA +GARD:0016822,Orphanet,93426,Exact +GARD:0016822,OMIM,617405,BTNT +GARD:0016822,UMLS,C0432195,Exact +GARD:0016822,ICD-10,Q77.2,Exact +GARD:0016823,Orphanet,93581,Exact +GARD:0016823,OMIM,235400,NTBT +GARD:0016823,ICD-10,D58.8,NTBT +GARD:0016824,Orphanet,93589,Exact +GARD:0016824,ICD-10,Q61.5,NTBT +GARD:0016824,OMIM,613159,BTNT +GARD:0016824,OMIM,604387,BTNT +GARD:0016824,OMIM,617271,BTNT +GARD:0016825,Orphanet,93591,Exact +GARD:0016825,OMIM,602088,BTNT +GARD:0016825,ICD-10,Q61.5,NTBT +GARD:0016825,OMIM,615382,BTNT +GARD:0016826,Orphanet,93607,Exact +GARD:0016826,UMLS,C1970309,Exact +GARD:0016826,OMIM,604278,Exact +GARD:0016826,ICD-10,N25.8,NTBT +GARD:0016827,Orphanet,93612,Exact +GARD:0016827,OMIM,220100,NTBT +GARD:0016827,UMLS,C1857388,Exact +GARD:0016827,ICD-10,E72.0,NTBT +GARD:0016828,Orphanet,93613,Exact +GARD:0016828,OMIM,220100,NTBT +GARD:0016828,ICD-10,E72.0,NTBT +GARD:0016828,UMLS,C1857389,Exact +GARD:0016829,Orphanet,93616,Exact +GARD:0016829,UMLS,C3161174,Exact +GARD:0016829,MedDRA,10063435,Exact +GARD:0016829,UMLS,C1260396,Exact +GARD:0016829,ICD-10,D56.0,NTBT +GARD:0016829,UMLS,C0002312,Exact +GARD:0016829,OMIM,613978,Exact +GARD:0016829,ICD-11,3A50.02,Exact +GARD:0016829,SNOMED-CT,48553001,NA +GARD:0016830,Orphanet,93924,Exact +GARD:0016830,OMIM,610829,NTBT +GARD:0016830,UMLS,C0431362,Exact +GARD:0016830,OMIM,157170,NTBT +GARD:0016830,ICD-10,Q04.2,NTBT +GARD:0016830,OMIM,609637,NTBT +GARD:0016830,SNOMED-CT,253136007,NA +GARD:0016831,SNOMED-CT,253137003,NA +GARD:0016831,Orphanet,93925,Exact +GARD:0016831,OMIM,157170,NTBT +GARD:0016831,OMIM,609637,NTBT +GARD:0016831,ICD-10,Q04.2,NTBT +GARD:0016831,UMLS,C0431363,Exact +GARD:0016831,OMIM,610829,NTBT +GARD:0016831,OMIM,301043,NTBT +GARD:0016832,Orphanet,93926,Exact +GARD:0016832,OMIM,157170,NTBT +GARD:0016832,OMIM,609637,NTBT +GARD:0016832,ICD-10,Q04.2,NTBT +GARD:0016832,OMIM,610829,NTBT +GARD:0016833,Orphanet,93940,Exact +GARD:0016833,ICD-10,Q32.1,NTBT +GARD:0016833,OMIM,215800,BTNT +GARD:0016834,SNOMED-CT,726727003,NA +GARD:0016834,Orphanet,93952,Exact +GARD:0016834,OMIM,300423,Exact +GARD:0016835,Orphanet,93976,Exact +GARD:0016835,OMIM,600674,NTBT +GARD:0016835,MeSH,C537772,Exact +GARD:0016835,SNOMED-CT,57436000,NA +GARD:0016835,MedDRA,10002654,Exact +GARD:0016835,ICD-10,Q16.0,ND (not yet decided/unable to decide) +GARD:0016835,ICD-10,Q16.1,ND (not yet decided/unable to decide) +GARD:0016835,UMLS,C0702139,Exact +GARD:0016836,SNOMED-CT,717332007,NA +GARD:0016836,Orphanet,94122,Exact +GARD:0016836,ICD-10,G11.0,NTBT +GARD:0016836,OMIM,601238,Exact +GARD:0016836,UMLS,C1832585,Exact +GARD:0016837,Orphanet,94150,Exact +GARD:0016837,ICD-10,Q84.3,NTBT +GARD:0016837,OMIM,206800,Exact +GARD:0016838,Orphanet,95232,Exact +GARD:0016838,ICD-10,Q04.3,NTBT +GARD:0016838,OMIM,607432,Exact +GARD:0016838,SNOMED-CT,770560008,NA +GARD:0016839,SNOMED-CT,782917007,NA +GARD:0016839,Orphanet,95700,Exact +GARD:0016839,UMLS,C1859978,Exact +GARD:0016839,ICD-10,E27.1,NTBT +GARD:0016839,OMIM,202150,Exact +GARD:0016840,SNOMED-CT,818963004,NA +GARD:0016840,Orphanet,95706,Exact +GARD:0016840,ICD-10,Q54.2,BTNT +GARD:0016840,OMIM,146450,BTNT +GARD:0016840,OMIM,300633,BTNT +GARD:0016840,OMIM,300856,BTNT +GARD:0016840,ICD-10,Q54.3,BTNT +GARD:0016840,OMIM,300758,BTNT +GARD:0016841,Orphanet,95712,Exact +GARD:0016841,ICD-10,E03.1,NTBT +GARD:0016841,OMIM,225250,BTNT +GARD:0016841,OMIM,218700,NTBT +GARD:0016841,UMLS,C0266283,Exact +GARD:0016841,SNOMED-CT,268302006,NA +GARD:0016842,Orphanet,95713,Exact +GARD:0016842,OMIM,225250,BTNT +GARD:0016842,OMIM,218700,NTBT +GARD:0016842,ICD-10,E03.1,NTBT +GARD:0016842,SNOMED-CT,718690009,NA +GARD:0016843,SNOMED-CT,718183003,NA +GARD:0016843,Orphanet,95716,Exact +GARD:0016843,OMIM,274800,BTNT +GARD:0016843,OMIM,274900,BTNT +GARD:0016843,OMIM,274400,Exact +GARD:0016843,OMIM,274500,BTNT +GARD:0016843,ICD-10,E03.0,NTBT +GARD:0016843,OMIM,607200,BTNT +GARD:0016843,ICD-10,E03.1,NTBT +GARD:0016843,OMIM,274700,BTNT +GARD:0016844,SNOMED-CT,715734006,NA +GARD:0016844,Orphanet,95719,Exact +GARD:0016844,ICD-10,E03.1,NTBT +GARD:0016844,OMIM,218700,NTBT +GARD:0016845,Orphanet,96125,Exact +GARD:0016845,SNOMED-CT,718688008,NA +GARD:0016845,OMIM,612582,Exact +GARD:0016845,ICD-10,Q93.5,NTBT +GARD:0016845,UMLS,C2675486,Exact +GARD:0016846,Orphanet,96147,Exact +GARD:0016846,ICD-10,Q87.8,NTBT +GARD:0016846,OMIM,610253,NTBT +GARD:0016846,UMLS,C0795833,Exact +GARD:0016847,Orphanet,96168,Exact +GARD:0016847,ICD-10,Q93.5,NTBT +GARD:0016847,OMIM,619148,Exact +GARD:0016847,SNOMED-CT,766716004,NA +GARD:0016848,Orphanet,96184,Exact +GARD:0016848,OMIM,616222,NTBT +GARD:0016848,ICD-10,Q99.8,NTBT +GARD:0016849,Orphanet,96186,Exact +GARD:0016849,ICD-10,Q99.8,NTBT +GARD:0016849,OMIM,617352,Exact +GARD:0016849,SNOMED-CT,715735007,NA +GARD:0016850,Orphanet,96256,Exact +GARD:0016850,OMIM,102200,Exact +GARD:0016850,UMLS,C0346302,Exact +GARD:0016850,ICD-10,E22.0,ND (not yet decided/unable to decide) +GARD:0016850,SNOMED-CT,254957009,NA +GARD:0016850,ICD-10,D35.2,ND (not yet decided/unable to decide) +GARD:0016851,Orphanet,96265,Exact +GARD:0016851,ICD-10,Q56.1,NTBT +GARD:0016851,OMIM,238320,NTBT +GARD:0016852,Orphanet,96266,Exact +GARD:0016852,OMIM,238320,NTBT +GARD:0016852,ICD-10,Q56.1,NTBT +GARD:0016853,SNOMED-CT,716657000,NA +GARD:0016853,Orphanet,97290,Exact +GARD:0016853,ICD-10,C73,NTBT +GARD:0016853,ICD-10,C64,NTBT +GARD:0016853,UMLS,C1854104,Exact +GARD:0016853,OMIM,605642,Exact +GARD:0016854,Orphanet,97369,Exact +GARD:0016854,ICD-10,Q63.8,NTBT +GARD:0016854,OMIM,267430,Exact +GARD:0016855,Orphanet,98291,Exact +GARD:0016855,OMIM,619126,BTNT +GARD:0016855,ICD-10,D47.9,NTBT +GARD:0016856,Orphanet,98434,Exact +GARD:0016856,ICD-10,D68.2,NTBT +GARD:0016856,ICD-11,3B14.2,Exact +GARD:0016856,OMIM,607473,BTNT +GARD:0016856,SNOMED-CT,724356003,NA +GARD:0016856,OMIM,277450,Exact +GARD:0016856,UMLS,C1848534,Exact +GARD:0016857,Orphanet,98553,Exact +GARD:0016857,OMIM,120200,BTNT +GARD:0016857,OMIM,216820,BTNT +GARD:0016858,Orphanet,98606,Exact +GARD:0016858,OMIM,165600,Exact +GARD:0016858,UMLS,C1833795,Exact +GARD:0016858,SNOMED-CT,717337001,NA +GARD:0016859,SNOMED-CT,773771008,NA +GARD:0016859,Orphanet,98619,Exact +GARD:0016859,UMLS,C0027092,Exact +GARD:0016859,OMIM,615431,BTNT +GARD:0016859,OMIM,608908,BTNT +GARD:0016859,OMIM,614292,BTNT +GARD:0016860,Orphanet,98676,Exact +GARD:0016860,OMIM,258500,BTNT +GARD:0016860,OMIM,616289,BTNT +GARD:0016860,OMIM,616732,BTNT +GARD:0016860,ICD-10,H47.2,NTBT +GARD:0016860,OMIM,617302,BTNT +GARD:0016861,Orphanet,98754,Exact +GARD:0016861,OMIM,176270,NTBT +GARD:0016861,ICD-10,Q87.1,NTBT +GARD:0016862,Orphanet,98791,Exact +GARD:0016862,ICD-10,D56.0,NTBT +GARD:0016862,UMLS,C0475813,Exact +GARD:0016862,UMLS,C0795917,Exact +GARD:0016862,OMIM,141750,Exact +GARD:0016863,Orphanet,98835,Exact +GARD:0016863,OMIM,601626,NTBT +GARD:0016863,UMLS,C0856823,Exact +GARD:0016863,MedDRA,10045516,Exact +GARD:0016863,UMLS,C0280141,Exact +GARD:0016863,ICD-10,C95.0,NTBT +GARD:0016864,SNOMED-CT,8549006,NA +GARD:0016864,Orphanet,98852,Exact +GARD:0016864,OMIM,263000,BTNT +GARD:0016864,UMLS,C0238378,Exact +GARD:0016864,ICD-10,J84.1,NTBT +GARD:0016865,Orphanet,98853,Exact +GARD:0016865,OMIM,181350,BTNT +GARD:0016865,UMLS,C0410190,Exact +GARD:0016865,OMIM,612999,BTNT +GARD:0016865,OMIM,612998,BTNT +GARD:0016865,OMIM,614302,BTNT +GARD:0016865,ICD-10,G71.0,NTBT +GARD:0016866,Orphanet,98855,Exact +GARD:0016866,UMLS,C1450051,Exact +GARD:0016866,OMIM,616516,BTNT +GARD:0016866,MeSH,D020389,Exact +GARD:0016866,UMLS,C2750035,Exact +GARD:0016866,ICD-10,G71.0,NTBT +GARD:0016867,Orphanet,98868,Exact +GARD:0016867,OMIM,166900,Exact +GARD:0016867,ICD-10,D58.1,NTBT +GARD:0016867,SNOMED-CT,723623002,NA +GARD:0016868,Orphanet,98886,Exact +GARD:0016868,UMLS,C3280114,Exact +GARD:0016868,OMIM,614200,Exact +GARD:0016868,ICD-10,D69.8,NTBT +GARD:0016869,SNOMED-CT,702349003,NA +GARD:0016869,Orphanet,98904,Exact +GARD:0016869,UMLS,C3711389,Exact +GARD:0016869,OMIM,161800,NTBT +GARD:0016869,UMLS,C1834336,Exact +GARD:0016869,ICD-10,G71.2,NTBT +GARD:0016870,SNOMED-CT,770627003,NA +GARD:0016870,Orphanet,98909,Exact +GARD:0016870,ICD-10,G71.8,NTBT +GARD:0016870,UMLS,C1832370,Exact +GARD:0016870,OMIM,601419,Exact +GARD:0016871,Orphanet,98911,Exact +GARD:0016871,ICD-10,G71.8,NTBT +GARD:0016871,OMIM,609200,Exact +GARD:0016871,SNOMED-CT,765196004,NA +GARD:0016872,Orphanet,98915,Exact +GARD:0016872,ICD-10,G70.2,NTBT +GARD:0016872,OMIM,603034,BTNT +GARD:0016873,Orphanet,98916,Exact +GARD:0016873,UMLS,C1963929,Exact +GARD:0016873,ICD-10,G61.0,NTBT +GARD:0016873,ICD-11,8C01.0,Exact +GARD:0016873,SNOMED-CT,716723000,NA +GARD:0016873,OMIM,139393,BTNT +GARD:0016874,Orphanet,98934,Exact +GARD:0016874,ICD-10,G10,NTBT +GARD:0016874,OMIM,606438,Exact +GARD:0016874,UMLS,C1847987,Exact +GARD:0016874,SNOMED-CT,721228006,NA +GARD:0016875,Orphanet,98942,Exact +GARD:0016875,OMIM,120200,NTBT +GARD:0016875,ICD-10,Q14.8,NTBT +GARD:0016875,ICD-11,LA13.1,Exact +GARD:0016875,SNOMED-CT,768932000,NA +GARD:0016876,Orphanet,98949,Exact +GARD:0016876,OMIM,123570,Exact +GARD:0016876,ICD-10,Q11.2,NTBT +GARD:0016877,Orphanet,98955,Exact +GARD:0016877,OMIM,300778,Exact +GARD:0016877,UMLS,C2749050,Exact +GARD:0016877,ICD-10,H18.5,NTBT +GARD:0016877,SNOMED-CT,724175002,NA +GARD:0016878,Orphanet,98959,Exact +GARD:0016878,UMLS,C2748503,Exact +GARD:0016878,OMIM,612867,Exact +GARD:0016878,ICD-10,H18.5,NTBT +GARD:0016878,SNOMED-CT,723582004,NA +GARD:0016879,Orphanet,98970,Exact +GARD:0016879,OMIM,121850,Exact +GARD:0016879,ICD-10,H18.5,NTBT +GARD:0016879,UMLS,C1562113,Exact +GARD:0016879,SNOMED-CT,417183007,NA +GARD:0016880,SNOMED-CT,719296002,NA +GARD:0016880,Orphanet,98971,Exact +GARD:0016880,UMLS,C2748502,Exact +GARD:0016880,ICD-10,H18.5,NTBT +GARD:0016880,OMIM,612868,Exact +GARD:0016881,SNOMED-CT,419074008,NA +GARD:0016881,Orphanet,98972,Exact +GARD:0016881,OMIM,217600,Exact +GARD:0016881,UMLS,C1622427,Exact +GARD:0016881,ICD-10,H18.5,NTBT +GARD:0016882,Orphanet,98973,Exact +GARD:0016882,UMLS,C0339284,Exact +GARD:0016882,OMIM,609140,BTNT +GARD:0016882,ICD-10,H18.5,NTBT +GARD:0016882,OMIM,122000,Exact +GARD:0016882,OMIM,609141,BTNT +GARD:0016882,OMIM,618031,BTNT +GARD:0016882,SNOMED-CT,29504002,NA +GARD:0016883,Orphanet,98977,Exact +GARD:0016883,OMIM,611274,BTNT +GARD:0016883,MedDRA,10064032,Exact +GARD:0016883,OMIM,608695,BTNT +GARD:0016883,OMIM,231300,NTBT +GARD:0016883,OMIM,608696,BTNT +GARD:0016883,UMLS,C2981140,Exact +GARD:0016883,OMIM,137750,BTNT +GARD:0016883,OMIM,610535,BTNT +GARD:0016883,SNOMED-CT,71111008,NA +GARD:0016884,Orphanet,98984,Exact +GARD:0016884,UMLS,C1852438,Exact +GARD:0016884,ICD-10,Q12.0,NTBT +GARD:0016884,UMLS,C1833118,Exact +GARD:0016884,OMIM,116300,BTNT +GARD:0016885,Orphanet,98985,Exact +GARD:0016885,UMLS,C1854021,Exact +GARD:0016885,OMIM,600881,NTBT +GARD:0016885,ICD-10,Q12.0,NTBT +GARD:0016885,OMIM,605728,BTNT +GARD:0016885,OMIM,116100,NTBT +GARD:0016886,Orphanet,98990,Exact +GARD:0016886,OMIM,115800,BTNT +GARD:0016886,ICD-10,Q12.0,NTBT +GARD:0016887,Orphanet,98991,Exact +GARD:0016887,OMIM,609376,BTNT +GARD:0016887,MedDRA,10057735,Exact +GARD:0016887,MedDRA,10007759,Exact +GARD:0016887,OMIM,610019,BTNT +GARD:0016887,OMIM,116400,BTNT +GARD:0016887,OMIM,607304,BTNT +GARD:0016887,OMIM,611391,BTNT +GARD:0016887,ICD-10,Q12.0,NTBT +GARD:0016887,OMIM,600881,NTBT +GARD:0016887,UMLS,C1112705,Exact +GARD:0016887,UMLS,C0392557,Exact +GARD:0016888,Orphanet,98992,Exact +GARD:0016888,OMIM,116300,BTNT +GARD:0016888,OMIM,116400,BTNT +GARD:0016888,OMIM,613763,BTNT +GARD:0016888,OMIM,614422,BTNT +GARD:0016888,OMIM,610019,BTNT +GARD:0016888,ICD-10,Q12.0,NTBT +GARD:0016888,OMIM,609376,BTNT +GARD:0016888,OMIM,601202,BTNT +GARD:0016888,OMIM,115660,BTNT +GARD:0016888,OMIM,607304,BTNT +GARD:0016888,OMIM,605728,BTNT +GARD:0016888,OMIM,115800,BTNT +GARD:0016889,Orphanet,98993,Exact +GARD:0016889,ICD-10,Q12.0,NTBT +GARD:0016889,UMLS,C0858617,Exact +GARD:0016889,OMIM,613763,NTBT +GARD:0016889,OMIM,600881,NTBT +GARD:0016890,SNOMED-CT,725590001,NA +GARD:0016890,Orphanet,99001,Exact +GARD:0016890,ICD-10,H35.5,NTBT +GARD:0016890,OMIM,608970,BTNT +GARD:0016890,OMIM,610125,NTBT +GARD:0016890,OMIM,169150,BTNT +GARD:0016891,Orphanet,99002,Exact +GARD:0016891,UMLS,C1867332,Exact +GARD:0016891,OMIM,617175,BTNT +GARD:0016891,ICD-10,H35.5,NTBT +GARD:0016891,OMIM,179840,BTNT +GARD:0016891,OMIM,267800,BTNT +GARD:0016891,SNOMED-CT,723502001,NA +GARD:0016892,Orphanet,99051,Exact +GARD:0016892,ICD-10,Q24.4,NTBT +GARD:0016892,OMIM,271950,BTNT +GARD:0016893,Orphanet,99067,Exact +GARD:0016893,OMIM,615779,NTBT +GARD:0016893,ICD-10,Q21.2,NTBT +GARD:0016894,Orphanet,99068,Exact +GARD:0016894,OMIM,615779,NTBT +GARD:0016894,ICD-10,Q21.2,NTBT +GARD:0016895,Orphanet,99092,Exact +GARD:0016895,ICD-10,Q21.0,NTBT +GARD:0016895,OMIM,105805,Exact +GARD:0016895,UMLS,C1387721,Exact +GARD:0016895,SNOMED-CT,763747002,NA +GARD:0016896,SNOMED-CT,111323005,NA +GARD:0016896,Orphanet,99125,Exact +GARD:0016896,ICD-11,LA86.20,Exact +GARD:0016896,OMIM,106700,Exact +GARD:0016896,ICD-10,Q26.2,Exact +GARD:0016897,Orphanet,99135,Exact +GARD:0016897,ICD-10,D55.1,NTBT +GARD:0016897,OMIM,619199,Exact +GARD:0016897,SNOMED-CT,124128009,NA +GARD:0016898,Orphanet,99141,Exact +GARD:0016898,OMIM,613611,Exact +GARD:0016898,ICD-10,Q82.0,NTBT +GARD:0016899,Orphanet,99177,Exact +GARD:0016899,UMLS,C0423848,Exact +GARD:0016899,SNOMED-CT,95339000,NA +GARD:0016899,ICD-10,Q10.3,NTBT +GARD:0016899,OMIM,126300,Exact +GARD:0016900,Orphanet,99179,Exact +GARD:0016900,UMLS,C0271257,Exact +GARD:0016900,SNOMED-CT,765191009,NA +GARD:0016900,OMIM,228990,Exact +GARD:0016900,ICD-10,H35.5,NTBT +GARD:0016901,Orphanet,99361,Exact +GARD:0016901,UMLS,C1833921,Exact +GARD:0016901,MeSH,C536911,Exact +GARD:0016901,ICD-10,C73,NTBT +GARD:0016901,OMIM,155240,Exact +GARD:0016902,SNOMED-CT,724146008,NA +GARD:0016902,Orphanet,99646,Exact +GARD:0016902,ICD-10,Q78.8,NTBT +GARD:0016902,OMIM,614875,Exact +GARD:0016903,SNOMED-CT,239020008,NA +GARD:0016903,Orphanet,99672,Exact +GARD:0016903,OMIM,602401,Exact +GARD:0016903,UMLS,C0406715,Exact +GARD:0016904,SNOMED-CT,715788001,NA +GARD:0016904,Orphanet,99734,Exact +GARD:0016904,UMLS,C0752355,Exact +GARD:0016904,ICD-10,G71.1,NTBT +GARD:0016904,OMIM,608390,NTBT +GARD:0016905,Orphanet,99735,Exact +GARD:0016905,OMIM,608390,NTBT +GARD:0016905,ICD-10,G71.1,NTBT +GARD:0016905,SNOMED-CT,715789009,NA +GARD:0016906,SNOMED-CT,715793003,NA +GARD:0016906,Orphanet,99736,Exact +GARD:0016906,ICD-10,G71.1,NTBT +GARD:0016906,OMIM,608390,NTBT +GARD:0016907,SNOMED-CT,253997002,NA +GARD:0016907,Orphanet,99772,Exact +GARD:0016907,OMIM,119570,BTNT +GARD:0016907,ICD-10,Q35.3,Exact +GARD:0016907,ICD-11,LA42.1,Exact +GARD:0016907,UMLS,C0432098,Exact +GARD:0016908,SNOMED-CT,787414001,NA +GARD:0016908,Orphanet,99798,Exact +GARD:0016908,OMIM,313500,BTNT +GARD:0016908,OMIM,150400,BTNT +GARD:0016908,ICD-10,K00.0,NTBT +GARD:0016908,OMIM,604625,BTNT +GARD:0016908,ICD-11,LA30.2,Exact +GARD:0016908,OMIM,616724,BTNT +GARD:0016908,OMIM,106600,BTNT +GARD:0016908,OMIM,610926,BTNT +GARD:0016908,OMIM,617073,BTNT +GARD:0016909,SNOMED-CT,719972004,NA +GARD:0016909,Orphanet,99803,Exact +GARD:0016909,UMLS,C1859587,Exact +GARD:0016909,OMIM,209880,NTBT +GARD:0016909,ICD-10,G47.3,NTBT +GARD:0016909,UMLS,C1859049,Exact +GARD:0016909,MeSH,C536209,Exact +GARD:0016910,SNOMED-CT,770944002,NA +GARD:0016910,Orphanet,99806,Exact +GARD:0016910,OMIM,166750,NTBT +GARD:0016910,UMLS,C2750325,Exact +GARD:0016910,ICD-10,K07.8,NTBT +GARD:0016911,SNOMED-CT,770678005,NA +GARD:0016911,Orphanet,99807,Exact +GARD:0016911,ICD-10,G31.8,NTBT +GARD:0016911,OMIM,260565,NTBT +GARD:0016911,OMIM,617507,Exact +GARD:0016911,UMLS,C1850056,Exact +GARD:0016912,Orphanet,99818,Exact +GARD:0016912,OMIM,175100,NTBT +GARD:0016912,ICD-10,D12.6,NTBT +GARD:0016913,Orphanet,99819,Exact +GARD:0016913,UMLS,C1863959,Exact +GARD:0016913,OMIM,603373,Exact +GARD:0016913,ICD-10,E05.8,ND (not yet decided/unable to decide) +GARD:0016913,ICD-10,O99.2,ND (not yet decided/unable to decide) +GARD:0016913,MeSH,C566384,Exact +GARD:0016914,SNOMED-CT,725462002,NA +GARD:0016914,Orphanet,99832,Exact +GARD:0016914,ICD-10,E03.1,NTBT +GARD:0016914,OMIM,618573,Exact +GARD:0016915,Orphanet,99844,Exact +GARD:0016915,OMIM,612840,Exact +GARD:0016915,ICD-10,D84.8,NTBT +GARD:0016915,UMLS,C2748536,Exact +GARD:0016916,Orphanet,99845,Exact +GARD:0016916,SNOMED-CT,716721003,NA +GARD:0016916,OMIM,550500,BTNT +GARD:0016916,ICD-10,R82.1,NTBT +GARD:0016916,OMIM,268200,BTNT +GARD:0016917,SNOMED-CT,725903003,NA +GARD:0016917,Orphanet,99846,Exact +GARD:0016917,ICD-10,R82.1,NTBT +GARD:0016917,UMLS,C1834567,Exact +GARD:0016917,OMIM,160010,Exact +GARD:0016918,Orphanet,99853,Exact +GARD:0016918,ICD-10,E75.2,NTBT +GARD:0016918,OMIM,603896,NTBT +GARD:0016918,OMIM,615889,BTNT +GARD:0016918,UMLS,C1847967,Exact +GARD:0016919,Orphanet,99854,Exact +GARD:0016919,OMIM,603896,NTBT +GARD:0016919,UMLS,C1858991,Exact +GARD:0016919,ICD-10,E75.2,NTBT +GARD:0016920,Orphanet,99860,Exact +GARD:0016920,ICD-11,2A70,Exact +GARD:0016920,ICD-10,C91.0,NTBT +GARD:0016920,OMIM,615545,BTNT +GARD:0016920,UMLS,C1292769,Exact +GARD:0016920,ICD-10,C83.5,NTBT +GARD:0016920,UMLS,C0006413,Exact +GARD:0016920,SNOMED-CT,277572006,NA +GARD:0016921,Orphanet,99865,Exact +GARD:0016921,OMIM,273300,NTBT +GARD:0016921,ICD-10,C62.9,NTBT +GARD:0016921,UMLS,C0334517,Exact +GARD:0016921,SNOMED-CT,1148904003,NA +GARD:0016922,SNOMED-CT,444231005,NA +GARD:0016922,Orphanet,99867,Exact +GARD:0016922,UMLS,C0040100,Exact +GARD:0016922,OMIM,274230,BTNT +GARD:0016922,MedDRA,10043670,Exact +GARD:0016922,ICD-10,D38.4,BTNT +GARD:0016922,ICD-10,D15.0,NTBT +GARD:0016922,MeSH,D013945,Exact +GARD:0016923,SNOMED-CT,786037006,NA +GARD:0016923,Orphanet,99879,Exact +GARD:0016923,OMIM,617343,BTNT +GARD:0016923,OMIM,618883,BTNT +GARD:0016923,ICD-10,E21.0,NTBT +GARD:0016923,UMLS,C4551961,Exact +GARD:0016923,OMIM,600166,BTNT +GARD:0016923,MeSH,C564166,Exact +GARD:0016923,OMIM,610071,BTNT +GARD:0016923,OMIM,145000,BTNT +GARD:0016924,Orphanet,99908,Exact +GARD:0016924,OMIM,145300,BTNT +GARD:0016924,ICD-11,CA70.2,Exact +GARD:0016924,UMLS,C0031903,Exact +GARD:0016924,ICD-10,J67.2,NTBT +GARD:0016924,MeSH,D001716,Exact +GARD:0016924,MedDRA,10004941,Exact +GARD:0016924,SNOMED-CT,69339004,NA +GARD:0016925,Orphanet,99947,Exact +GARD:0016925,OMIM,609260,Exact +GARD:0016925,ICD-10,G60.0,NTBT +GARD:0016925,UMLS,C1836485,Exact +GARD:0016925,SNOMED-CT,764850002,NA +GARD:0016926,Orphanet,99966,Exact +GARD:0016926,OMIM,609322,NTBT +GARD:0016926,ICD-10,C49.9,NTBT +GARD:0016927,Orphanet,99976,Exact +GARD:0016927,OMIM,614266,NTBT +GARD:0016927,ICD-10,C15.2,BTNT +GARD:0016927,SNOMED-CT,276803003,NA +GARD:0016927,ICD-10,C15.5,BTNT +GARD:0016927,UMLS,C0279628,Exact +GARD:0016928,Orphanet,99995,Exact +GARD:0016928,OMIM,604335,Exact +GARD:0016928,UMLS,C0034931,Exact +GARD:0016928,UMLS,C1527353,Exact +GARD:0016928,MedDRA,10064334,Exact +GARD:0016928,ICD-10,G90.5,Exact +GARD:0016929,SNOMED-CT,56453003,NA +GARD:0016929,Orphanet,100006,Exact +GARD:0016929,MeSH,C537944,Exact +GARD:0016929,UMLS,C0268394,Exact +GARD:0016929,ICD-10,I68.0*,NTBT +GARD:0016929,ICD-10,E85.4+,NTBT +GARD:0016929,UMLS,C2931672,Exact +GARD:0016929,MeSH,D028243,Exact +GARD:0016929,OMIM,605714,NTBT +GARD:0016930,SNOMED-CT,45639009,NA +GARD:0016930,Orphanet,100008,Exact +GARD:0016930,OMIM,105150,Exact +GARD:0016930,ICD-10,E85.4+,NTBT +GARD:0016930,UMLS,C1527338,Exact +GARD:0016930,ICD-10,I68.0*,NTBT +GARD:0016931,SNOMED-CT,109471001,NA +GARD:0016931,Orphanet,100032,Exact +GARD:0016931,OMIM,130900,Exact +GARD:0016931,ICD-10,K00.5,NTBT +GARD:0016931,OMIM,617607,BTNT +GARD:0016931,OMIM,616221,BTNT +GARD:0016931,UMLS,C0399376,Exact +GARD:0016932,Orphanet,100034,Exact +GARD:0016932,ICD-10,K00.5,NTBT +GARD:0016932,UMLS,C0399373,Exact +GARD:0016932,SNOMED-CT,109472008,NA +GARD:0016932,OMIM,104510,Exact +GARD:0016932,UMLS,C1863012,Exact +GARD:0016933,Orphanet,100050,Exact +GARD:0016933,UMLS,C2717906,Exact +GARD:0016933,MeSH,C538577,Exact +GARD:0016933,UMLS,C0398775,Exact +GARD:0016933,OMIM,106100,Exact +GARD:0016933,ICD-10,D84.1,NTBT +GARD:0016933,SNOMED-CT,234619000,NA +GARD:0016934,Orphanet,100051,Exact +GARD:0016934,SNOMED-CT,234620006,NA +GARD:0016934,ICD-10,D84.1,NTBT +GARD:0016934,UMLS,C0398776,Exact +GARD:0016934,UMLS,C1862892,Exact +GARD:0016934,OMIM,106100,NTBT +GARD:0016935,Orphanet,100054,Exact +GARD:0016935,ICD-10,D84.1,NTBT +GARD:0016935,MeSH,D056828,Exact +GARD:0016935,UMLS,C1857728,Exact +GARD:0016935,UMLS,C1960459,Exact +GARD:0016935,OMIM,610618,Exact +GARD:0016936,SNOMED-CT,371627004,NA +GARD:0016936,Orphanet,100057,Exact +GARD:0016936,ICD-10,T78.3,NTBT +GARD:0016936,OMIM,300909,BTNT +GARD:0016937,SNOMED-CT,64081000,NA +GARD:0016937,Orphanet,100924,Exact +GARD:0016937,ICD-10,E80.2,NTBT +GARD:0016937,OMIM,612740,Exact +GARD:0016938,Orphanet,100976,Exact +GARD:0016938,OMIM,242300,NTBT +GARD:0016938,ICD-10,Q80.2,NTBT +GARD:0016938,SNOMED-CT,725588002,NA +GARD:0016939,SNOMED-CT,764734003,NA +GARD:0016939,Orphanet,101001,Exact +GARD:0016939,OMIM,248900,Exact +GARD:0016939,UMLS,C1855346,Exact +GARD:0016939,ICD-10,G11.4,NTBT +GARD:0016940,SNOMED-CT,778030005,NA +GARD:0016940,Orphanet,101007,Exact +GARD:0016940,ICD-10,G11.4,NTBT +GARD:0016940,UMLS,C1836899,Exact +GARD:0016940,OMIM,609041,Exact +GARD:0016941,Orphanet,101008,Exact +GARD:0016941,OMIM,609340,Exact +GARD:0016941,ICD-10,G11.4,NTBT +GARD:0016941,UMLS,C1836295,Exact +GARD:0016941,SNOMED-CT,763376002,NA +GARD:0016942,Orphanet,101010,Exact +GARD:0016942,SNOMED-CT,763377006,NA +GARD:0016942,ICD-10,G11.4,NTBT +GARD:0016942,OMIM,610357,Exact +GARD:0016942,UMLS,C1835896,Exact +GARD:0016943,SNOMED-CT,702359002,NA +GARD:0016943,Orphanet,101068,Exact +GARD:0016943,OMIM,610048,Exact +GARD:0016943,UMLS,C1864738,Exact +GARD:0016943,ICD-10,H18.5,NTBT +GARD:0016944,SNOMED-CT,726708009,NA +GARD:0016944,Orphanet,101351,Exact +GARD:0016944,OMIM,271400,Exact +GARD:0016944,ICD-11,LB22.0,NTBT +GARD:0016944,ICD-10,Q89.0,NTBT +GARD:0016945,SNOMED-CT,18805001,NA +GARD:0016945,Orphanet,103908,Exact +GARD:0016945,OMIM,616868,BTNT +GARD:0016945,UMLS,C0267663,Exact +GARD:0016945,OMIM,270420,BTNT +GARD:0016945,ICD-10,P78.3,NTBT +GARD:0016946,Orphanet,103918,Exact +GARD:0016946,UMLS,C1842402,Exact +GARD:0016946,ICD-10,K86.1,NTBT +GARD:0016946,ICD-11,DC32.5,Exact +GARD:0016946,OMIM,608189,Exact +GARD:0016946,SNOMED-CT,724540009,NA +GARD:0016947,Orphanet,137631,Exact +GARD:0016947,ICD-10,D82.8,NTBT +GARD:0016947,OMIM,611926,Exact +GARD:0016947,SNOMED-CT,721977007,NA +GARD:0016948,SNOMED-CT,764095005,NA +GARD:0016948,Orphanet,137639,Exact +GARD:0016948,UMLS,C2676243,Exact +GARD:0016948,OMIM,607694,NTBT +GARD:0016948,ICD-10,E75.2,NTBT +GARD:0016949,Orphanet,137681,Exact +GARD:0016949,UMLS,C1836797,Exact +GARD:0016949,ICD-10,E88.8,NTBT +GARD:0016949,OMIM,609060,Exact +GARD:0016949,SNOMED-CT,764962002,NA +GARD:0016950,Orphanet,137908,Exact +GARD:0016950,UMLS,C2673642,Exact +GARD:0016950,OMIM,611719,Exact +GARD:0016950,ICD-10,E88.8,NTBT +GARD:0016950,SNOMED-CT,724279004,NA +GARD:0016951,Orphanet,137914,Exact +GARD:0016951,ICD-11,LA70.2,Exact +GARD:0016951,MedDRA,10008587,Exact +GARD:0016951,OMIM,608911,Exact +GARD:0016951,ICD-10,Q30.0,Exact +GARD:0016951,MeSH,D002754,Exact +GARD:0016951,UMLS,C0008297,Exact +GARD:0016951,SNOMED-CT,204508009,NA +GARD:0016952,SNOMED-CT,719583002,NA +GARD:0016952,Orphanet,139474,Exact +GARD:0016952,OMIM,618874,NTBT +GARD:0016952,UMLS,C3150928,Exact +GARD:0016952,ICD-10,Q92.3,NTBT +GARD:0016953,SNOMED-CT,770630005,NA +GARD:0016953,Orphanet,139518,Exact +GARD:0016953,OMIM,182960,Exact +GARD:0016953,UMLS,C1866784,Exact +GARD:0016953,ICD-10,G12.2,NTBT +GARD:0016954,Orphanet,139525,Exact +GARD:0016954,ICD-10,G12.2,NTBT +GARD:0016954,OMIM,608634,BTNT +GARD:0016954,UMLS,C3711384,Exact +GARD:0016954,OMIM,158590,BTNT +GARD:0016954,OMIM,613376,BTNT +GARD:0016954,UMLS,C1854023,Exact +GARD:0016954,OMIM,615575,BTNT +GARD:0016955,Orphanet,139536,Exact +GARD:0016955,OMIM,619112,BTNT +GARD:0016955,UMLS,C1833308,Exact +GARD:0016955,ICD-10,G12.2,NTBT +GARD:0016955,OMIM,600794,BTNT +GARD:0016955,OMIM,614751,BTNT +GARD:0016956,Orphanet,139547,Exact +GARD:0016956,OMIM,607088,Exact +GARD:0016956,UMLS,C1846823,Exact +GARD:0016956,ICD-10,G12.2,NTBT +GARD:0016956,SNOMED-CT,770430000,NA +GARD:0016957,Orphanet,139557,Exact +GARD:0016957,ICD-10,G12.2,NTBT +GARD:0016957,UMLS,C1845359,Exact +GARD:0016957,SNOMED-CT,766764008,NA +GARD:0016957,OMIM,300489,Exact +GARD:0016958,Orphanet,139564,Exact +GARD:0016958,UMLS,C1842586,Exact +GARD:0016958,ICD-10,G60.8,NTBT +GARD:0016958,OMIM,608088,Exact +GARD:0016958,SNOMED-CT,717825008,NA +GARD:0016959,Orphanet,139578,Exact +GARD:0016959,OMIM,256840,Exact +GARD:0016959,ICD-10,G60.8,NTBT +GARD:0016959,UMLS,C1850395,Exact +GARD:0016959,SNOMED-CT,717827000,NA +GARD:0016960,Orphanet,139589,Exact +GARD:0016960,OMIM,158580,BTNT +GARD:0016960,OMIM,607641,BTNT +GARD:0016960,SNOMED-CT,771081007,NA +GARD:0016960,ICD-10,G12.2,NTBT +GARD:0016961,SNOMED-CT,764100007,NA +GARD:0016961,Orphanet,140436,Exact +GARD:0016961,UMLS,C1847197,Exact +GARD:0016961,ICD-10,D18.0,NTBT +GARD:0016961,OMIM,606893,Exact +GARD:0016962,SNOMED-CT,764854006,NA +GARD:0016962,Orphanet,140481,Exact +GARD:0016962,UMLS,C1842357,Exact +GARD:0016962,ICD-10,G60.0,NTBT +GARD:0016962,OMIM,608236,Exact +GARD:0016963,SNOMED-CT,770406002,NA +GARD:0016963,Orphanet,140908,Exact +GARD:0016963,UMLS,C1969652,Exact +GARD:0016963,OMIM,611377,Exact +GARD:0016963,ICD-10,Q73.8,NTBT +GARD:0016964,Orphanet,140941,Exact +GARD:0016964,ICD-10,E34.3,NTBT +GARD:0016964,OMIM,615961,Exact +GARD:0016964,SNOMED-CT,721074002,NA +GARD:0016965,SNOMED-CT,720521008,NA +GARD:0016965,Orphanet,140957,Exact +GARD:0016965,OMIM,615193,BTNT +GARD:0016965,ICD-10,D69.4,NTBT +GARD:0016965,OMIM,187800,NTBT +GARD:0016965,OMIM,613112,BTNT +GARD:0016965,OMIM,619271,BTNT +GARD:0016966,SNOMED-CT,717909004,NA +GARD:0016966,Orphanet,140963,Exact +GARD:0016966,OMIM,612290,Exact +GARD:0016966,UMLS,C2676772,Exact +GARD:0016966,ICD-10,Q87.0,NTBT +GARD:0016967,Orphanet,140966,Exact +GARD:0016967,SNOMED-CT,722205008,NA +GARD:0016967,ICD-10,Q82.8,NTBT +GARD:0016967,OMIM,615598,Exact +GARD:0016968,Orphanet,141022,Exact +GARD:0016968,ICD-10,Q18.0,NTBT +GARD:0016968,OMIM,113600,Exact +GARD:0016969,SNOMED-CT,75355004,NA +GARD:0016969,Orphanet,141074,Exact +GARD:0016969,OMIM,108760,BTNT +GARD:0016969,ICD-11,LA22.2,Exact +GARD:0016969,ICD-10,Q16.1,Exact +GARD:0016969,OMIM,607842,BTNT +GARD:0016970,Orphanet,141103,Exact +GARD:0016970,UMLS,C1833473,Exact +GARD:0016970,ICD-10,Q18.8,NTBT +GARD:0016970,OMIM,600679,Exact +GARD:0016970,SNOMED-CT,232383004,NA +GARD:0016971,Orphanet,141145,Exact +GARD:0016971,UMLS,C1399354,Exact +GARD:0016971,OMIM,133900,Exact +GARD:0016971,ICD-10,Q67.4,NTBT +GARD:0016971,SNOMED-CT,697962004,NA +GARD:0016972,Orphanet,141152,Exact +GARD:0016972,ICD-10,Q38.3,NTBT +GARD:0016972,OMIM,612776,Exact +GARD:0016973,Orphanet,141242,Exact +GARD:0016973,UMLS,C0221363,Exact +GARD:0016973,SNOMED-CT,254007004,NA +GARD:0016973,ICD-10,Q18.8,NTBT +GARD:0016973,OMIM,614687,Exact +GARD:0016974,Orphanet,141258,Exact +GARD:0016974,ICD-10,Q18.8,NTBT +GARD:0016974,SNOMED-CT,254016000,NA +GARD:0016974,OMIM,600251,Exact +GARD:0016975,Orphanet,141276,Exact +GARD:0016975,ICD-10,Q18.4,NTBT +GARD:0016975,UMLS,C0024433,Exact +GARD:0016975,OMIM,613545,Exact +GARD:0016975,SNOMED-CT,254019007,NA +GARD:0016976,Orphanet,141291,Exact +GARD:0016976,ICD-10,Q36.0,BTNT +GARD:0016976,OMIM,119530,ND (not yet decided/unable to decide) +GARD:0016976,OMIM,225060,NTBT +GARD:0016976,OMIM,608371,ND (not yet decided/unable to decide) +GARD:0016976,OMIM,612858,ND (not yet decided/unable to decide) +GARD:0016976,UMLS,C1298692,Exact +GARD:0016976,OMIM,600757,ND (not yet decided/unable to decide) +GARD:0016976,OMIM,608874,BTNT +GARD:0016976,OMIM,610361,ND (not yet decided/unable to decide) +GARD:0016976,OMIM,602966,ND (not yet decided/unable to decide) +GARD:0016976,ICD-10,Q36.9,BTNT +GARD:0016976,OMIM,129400,NTBT +GARD:0016976,ICD-10,Q36.1,BTNT +GARD:0016976,SNOMED-CT,373643003,NA +GARD:0016977,SNOMED-CT,726081005,NA +GARD:0016977,Orphanet,157215,Exact +GARD:0016977,UMLS,C1853271,Exact +GARD:0016977,OMIM,241530,Exact +GARD:0016977,ICD-10,E83.3,NTBT +GARD:0016978,Orphanet,157713,Exact +GARD:0016978,OMIM,603896,NTBT +GARD:0016978,ICD-10,E75.2,NTBT +GARD:0016979,Orphanet,157716,Exact +GARD:0016979,OMIM,603896,NTBT +GARD:0016979,ICD-10,E75.2,NTBT +GARD:0016980,Orphanet,157719,Exact +GARD:0016980,OMIM,603896,NTBT +GARD:0016980,ICD-10,E75.2,NTBT +GARD:0016981,Orphanet,157794,Exact +GARD:0016981,OMIM,610069,BTNT +GARD:0016981,ICD-10,D12.6,NTBT +GARD:0016981,OMIM,601228,Exact +GARD:0016981,SNOMED-CT,787410005,NA +GARD:0016982,Orphanet,157798,Exact +GARD:0016982,OMIM,617108,Exact +GARD:0016982,ICD-10,D12.6,NTBT +GARD:0016982,SNOMED-CT,763536006,NA +GARD:0016983,SNOMED-CT,702363009,NA +GARD:0016983,Orphanet,157820,Exact +GARD:0016983,OMIM,610313,BTNT +GARD:0016983,ICD-10,G90.8,NTBT +GARD:0016983,OMIM,272430,Exact +GARD:0016983,OMIM,617055,BTNT +GARD:0016984,SNOMED-CT,784350004,NA +GARD:0016984,Orphanet,157832,Exact +GARD:0016984,ICD-10,Q30.8,NTBT +GARD:0016984,OMIM,123050,Exact +GARD:0016984,UMLS,C1852501,Exact +GARD:0016985,SNOMED-CT,784371009,NA +GARD:0016985,Orphanet,157941,Exact +GARD:0016985,ICD-10,G10,NTBT +GARD:0016985,OMIM,603218,Exact +GARD:0016985,UMLS,C1864112,Exact +GARD:0016986,SNOMED-CT,770939009,NA +GARD:0016986,Orphanet,157946,Exact +GARD:0016986,OMIM,604802,Exact +GARD:0016986,ICD-10,G10,NTBT +GARD:0016986,UMLS,C1858114,Exact +GARD:0016987,Orphanet,157954,Exact +GARD:0016987,UMLS,C2677535,Exact +GARD:0016987,OMIM,612079,Exact +GARD:0016987,SNOMED-CT,770941005,NA +GARD:0016988,SNOMED-CT,763815000,NA +GARD:0016988,Orphanet,157962,Exact +GARD:0016988,OMIM,612109,Exact +GARD:0016988,ICD-10,Q87.8,NTBT +GARD:0016989,SNOMED-CT,771300001,NA +GARD:0016989,Orphanet,158025,Exact +GARD:0016989,OMIM,142630,Exact +GARD:0016989,ICD-10,D76.3,NTBT +GARD:0016990,Orphanet,158681,Exact +GARD:0016990,OMIM,609352,Exact +GARD:0016990,SNOMED-CT,716700003,NA +GARD:0016990,UMLS,C1836284,Exact +GARD:0016990,ICD-10,Q81.0,NTBT +GARD:0016991,SNOMED-CT,716701004,NA +GARD:0016991,Orphanet,158684,Exact +GARD:0016991,OMIM,612138,Exact +GARD:0016991,UMLS,C2677349,Exact +GARD:0016991,ICD-10,Q81.0,NTBT +GARD:0016992,Orphanet,163596,Exact +GARD:0016992,OMIM,236750,NTBT +GARD:0016992,ICD-10,D56.0,NTBT +GARD:0016992,SNOMED-CT,5300004,NA +GARD:0016993,SNOMED-CT,718766002,NA +GARD:0016993,Orphanet,163649,Exact +GARD:0016993,OMIM,602611,Exact +GARD:0016993,ICD-10,Q77.7,NTBT +GARD:0016993,OMIM,618618,Exact +GARD:0016993,UMLS,C1865134,Exact +GARD:0016994,Orphanet,163662,Exact +GARD:0016994,SNOMED-CT,718764004,NA +GARD:0016994,UMLS,C1833603,Exact +GARD:0016994,ICD-10,Q77.7,NTBT +GARD:0016994,OMIM,600561,Exact +GARD:0016995,Orphanet,163665,Exact +GARD:0016995,UMLS,C1849053,Exact +GARD:0016995,OMIM,271620,Exact +GARD:0016995,ICD-10,Q77.7,NTBT +GARD:0016995,SNOMED-CT,719202006,NA +GARD:0016996,SNOMED-CT,718763005,NA +GARD:0016996,Orphanet,163668,Exact +GARD:0016996,UMLS,C1866719,Exact +GARD:0016996,ICD-10,Q77.7,NTBT +GARD:0016996,OMIM,184000,Exact +GARD:0016997,SNOMED-CT,771142009,NA +GARD:0016997,Orphanet,163681,Exact +GARD:0016997,UMLS,C1864887,Exact +GARD:0016997,ICD-10,Q04.8,NTBT +GARD:0016997,OMIM,610042,Exact +GARD:0016998,Orphanet,163690,Exact +GARD:0016998,UMLS,C1848030,Exact +GARD:0016998,ICD-10,E72.0,NTBT +GARD:0016998,OMIM,606407,Exact +GARD:0016998,SNOMED-CT,721173005,NA +GARD:0016999,SNOMED-CT,719652007,NA +GARD:0016999,Orphanet,163693,Exact +GARD:0016999,ICD-10,Q93.5,NTBT +GARD:0016999,OMIM,606407,NTBT +GARD:0017000,Orphanet,163696,Exact +GARD:0017000,OMIM,254900,Exact +GARD:0017000,ICD-10,G40.4,NTBT +GARD:0017000,UMLS,C0751779,Exact +GARD:0017000,SNOMED-CT,764453009,NA +GARD:0017001,Orphanet,163717,Exact +GARD:0017001,ICD-10,G40.0,NTBT +GARD:0017001,OMIM,614417,BTNT +GARD:0017001,OMIM,611630,BTNT +GARD:0017001,OMIM,615697,BTNT +GARD:0017001,SNOMED-CT,770405003,NA +GARD:0017002,Orphanet,163721,Exact +GARD:0017002,OMIM,300643,BTNT +GARD:0017002,OMIM,245570,NTBT +GARD:0017002,SNOMED-CT,765093009,NA +GARD:0017003,Orphanet,163727,Exact +GARD:0017003,OMIM,608105,Exact +GARD:0017003,MeSH,C535499,Exact +GARD:0017003,ICD-10,G40.4,NTBT +GARD:0017003,UMLS,C1842531,Exact +GARD:0017004,SNOMED-CT,765325002,NA +GARD:0017004,Orphanet,163746,Exact +GARD:0017004,OMIM,609136,Exact +GARD:0017004,UMLS,C1836727,Exact +GARD:0017004,ICD-10,E75.2,NTBT +GARD:0017005,SNOMED-CT,726732002,NA +GARD:0017005,Orphanet,163956,Exact +GARD:0017005,OMIM,300860,Exact +GARD:0017005,ICD-10,Q87.8,NTBT +GARD:0017006,Orphanet,163961,Exact +GARD:0017006,SNOMED-CT,770604006,NA +GARD:0017006,ICD-10,Q87.8,NTBT +GARD:0017006,OMIM,300864,Exact +GARD:0017007,Orphanet,163966,Exact +GARD:0017007,SNOMED-CT,719837003,NA +GARD:0017007,OMIM,300863,Exact +GARD:0017007,ICD-10,Q87.8,NTBT +GARD:0017008,SNOMED-CT,718914002,NA +GARD:0017008,Orphanet,163976,Exact +GARD:0017008,OMIM,301030,Exact +GARD:0017008,ICD-10,Q87.8,NTBT +GARD:0017009,Orphanet,163979,Exact +GARD:0017009,SNOMED-CT,773274001,NA +GARD:0017009,ICD-10,Q87.8,NTBT +GARD:0017009,OMIM,300712,Exact +GARD:0017010,SNOMED-CT,785726009,NA +GARD:0017010,Orphanet,163985,Exact +GARD:0017010,OMIM,300607,Exact +GARD:0017010,UMLS,C1845102,Exact +GARD:0017010,ICD-10,G25.8,NTBT +GARD:0017011,Orphanet,165805,Exact +GARD:0017011,ICD-10,G40.0,NTBT +GARD:0017011,OMIM,614418,BTNT +GARD:0017011,SNOMED-CT,784372002,NA +GARD:0017012,Orphanet,166011,Exact +GARD:0017012,SNOMED-CT,719689005,NA +GARD:0017012,ICD-10,Q77.3,NTBT +GARD:0017012,UMLS,C1851536,Exact +GARD:0017012,OMIM,132450,Exact +GARD:0017013,SNOMED-CT,768935003,NA +GARD:0017013,Orphanet,166016,Exact +GARD:0017013,OMIM,601560,Exact +GARD:0017013,UMLS,C1832112,Exact +GARD:0017013,ICD-10,Q78.8,NTBT +GARD:0017014,SNOMED-CT,719688002,NA +GARD:0017014,Orphanet,166024,Exact +GARD:0017014,ICD-10,Q77.3,NTBT +GARD:0017014,UMLS,C1846722,Exact +GARD:0017014,OMIM,607131,Exact +GARD:0017015,Orphanet,166029,Exact +GARD:0017015,OMIM,609324,Exact +GARD:0017015,UMLS,C1836315,Exact +GARD:0017015,ICD-10,Q77.3,NTBT +GARD:0017015,SNOMED-CT,763893008,NA +GARD:0017016,Orphanet,166032,Exact +GARD:0017016,SNOMED-CT,766750008,NA +GARD:0017016,UMLS,C1836307,Exact +GARD:0017016,ICD-10,Q77.3,NTBT +GARD:0017016,OMIM,609325,Exact +GARD:0017017,Orphanet,166035,Exact +GARD:0017017,OMIM,250410,Exact +GARD:0017017,UMLS,C1855188,Exact +GARD:0017017,SNOMED-CT,782914000,NA +GARD:0017017,ICD-10,Q87.8,NTBT +GARD:0017018,SNOMED-CT,770909004,NA +GARD:0017018,Orphanet,166038,Exact +GARD:0017018,ICD-10,Q78.5,NTBT +GARD:0017018,UMLS,C1855217,Exact +GARD:0017018,OMIM,250230,Exact +GARD:0017019,Orphanet,166078,Exact +GARD:0017019,UMLS,C1264039,Exact +GARD:0017019,ICD-10,D68.0,NTBT +GARD:0017019,OMIM,193400,Exact +GARD:0017019,MeSH,D056725,Exact +GARD:0017019,SNOMED-CT,128106003,NA +GARD:0017020,Orphanet,166081,Exact +GARD:0017020,OMIM,613554,Exact +GARD:0017020,ICD-10,D68.0,NTBT +GARD:0017020,UMLS,C1264040,Exact +GARD:0017020,MeSH,D056728,Exact +GARD:0017020,SNOMED-CT,128107007,NA +GARD:0017021,Orphanet,166084,Exact +GARD:0017021,OMIM,613554,NTBT +GARD:0017021,ICD-10,D68.0,NTBT +GARD:0017021,UMLS,C1282968,Exact +GARD:0017021,SNOMED-CT,359714009,NA +GARD:0017022,SNOMED-CT,359721009,NA +GARD:0017022,Orphanet,166087,Exact +GARD:0017022,OMIM,613554,NTBT +GARD:0017022,ICD-10,D68.0,NTBT +GARD:0017022,UMLS,C1282971,Exact +GARD:0017023,SNOMED-CT,359725000,NA +GARD:0017023,Orphanet,166090,Exact +GARD:0017023,ICD-10,D68.0,NTBT +GARD:0017023,OMIM,613554,NTBT +GARD:0017023,UMLS,C1282974,Exact +GARD:0017024,Orphanet,166093,Exact +GARD:0017024,ICD-10,D68.0,NTBT +GARD:0017024,OMIM,613554,NTBT +GARD:0017024,UMLS,C1282975,Exact +GARD:0017024,SNOMED-CT,359732009,NA +GARD:0017025,SNOMED-CT,128108002,NA +GARD:0017025,Orphanet,166096,Exact +GARD:0017025,OMIM,277480,Exact +GARD:0017025,MeSH,D056729,Exact +GARD:0017025,UMLS,C1264041,Exact +GARD:0017025,ICD-10,D68.0,NTBT +GARD:0017026,SNOMED-CT,778029000,NA +GARD:0017026,Orphanet,166105,Exact +GARD:0017026,ICD-10,G71.3,NTBT +GARD:0017026,OMIM,618855,Exact +GARD:0017027,Orphanet,166119,Exact +GARD:0017027,ICD-10,Q78.8,NTBT +GARD:0017027,UMLS,C0029455,Exact +GARD:0017027,OMIM,166700,NTBT +GARD:0017027,UMLS,C1833699,Exact +GARD:0017027,ICD-11,LD24.11,NTBT +GARD:0017028,Orphanet,166412,Exact +GARD:0017028,ICD-10,G40.5,NTBT +GARD:0017028,OMIM,613340,BTNT +GARD:0017028,OMIM,613339,Exact +GARD:0017028,SNOMED-CT,763534009,NA +GARD:0017029,Orphanet,166433,Exact +GARD:0017029,OMIM,132300,Exact +GARD:0017029,UMLS,C0278193,Exact +GARD:0017029,ICD-10,G40.5,NTBT +GARD:0017029,SNOMED-CT,7689009,NA +GARD:0017030,Orphanet,168451,Exact +GARD:0017030,OMIM,601668,Exact +GARD:0017030,UMLS,C1866507,Exact +GARD:0017030,ICD-10,Q77.7,NTBT +GARD:0017030,SNOMED-CT,773302000,NA +GARD:0017031,Orphanet,168486,Exact +GARD:0017031,ICD-10,E75.4,NTBT +GARD:0017031,UMLS,C1864670,Exact +GARD:0017031,UMLS,C0027877,Exact +GARD:0017031,OMIM,610127,BTNT +GARD:0017031,SNOMED-CT,720830009,NA +GARD:0017032,Orphanet,168491,Exact +GARD:0017032,OMIM,601780,BTNT +GARD:0017032,OMIM,610951,BTNT +GARD:0017032,ICD-10,E75.4,NTBT +GARD:0017032,OMIM,610127,BTNT +GARD:0017032,OMIM,204500,BTNT +GARD:0017032,OMIM,256730,BTNT +GARD:0017032,OMIM,256731,BTNT +GARD:0017032,UMLS,C0022340,Exact +GARD:0017032,OMIM,600143,BTNT +GARD:0017032,SNOMED-CT,14637005,NA +GARD:0017033,SNOMED-CT,783092005,NA +GARD:0017033,Orphanet,168558,Exact +GARD:0017033,OMIM,613743,Exact +GARD:0017033,ICD-10,Q56.1,NTBT +GARD:0017034,Orphanet,168563,Exact +GARD:0017034,ICD-10,Q56.1,BTNT +GARD:0017034,UMLS,C2751325,Exact +GARD:0017034,OMIM,607080,Exact +GARD:0017034,SNOMED-CT,783091003,NA +GARD:0017035,Orphanet,168566,Exact +GARD:0017035,OMIM,610505,Exact +GARD:0017035,UMLS,C1864840,Exact +GARD:0017035,ICD-10,E88.8,NTBT +GARD:0017035,SNOMED-CT,720951008,NA +GARD:0017036,Orphanet,168577,Exact +GARD:0017036,OMIM,608885,Exact +GARD:0017036,UMLS,C1837206,Exact +GARD:0017036,ICD-10,D58.8,NTBT +GARD:0017036,SNOMED-CT,782911008,NA +GARD:0017037,Orphanet,168583,Exact +GARD:0017037,UMLS,C1858051,Exact +GARD:0017037,OMIM,604901,Exact +GARD:0017037,ICD-10,K74.6,NTBT +GARD:0017037,ICD-11,DB93.20,Exact +GARD:0017038,Orphanet,168601,Exact +GARD:0017038,ICD-10,K90.8,NTBT +GARD:0017038,SNOMED-CT,56661000,NA +GARD:0017038,OMIM,226200,Exact +GARD:0017038,UMLS,C0268416,Exact +GARD:0017039,Orphanet,168606,Exact +GARD:0017039,UMLS,C1853258,Exact +GARD:0017039,OMIM,610227,Exact +GARD:0017039,SNOMED-CT,782910009,NA +GARD:0017040,SNOMED-CT,716698007,NA +GARD:0017040,Orphanet,168612,Exact +GARD:0017040,OMIM,615969,Exact +GARD:0017040,ICD-10,R77.2,NTBT +GARD:0017040,UMLS,C1863081,Exact +GARD:0017041,Orphanet,168629,Exact +GARD:0017041,OMIM,273900,BTNT +GARD:0017041,ICD-10,D69.4,NTBT +GARD:0017041,OMIM,188000,BTNT +GARD:0017041,OMIM,612004,BTNT +GARD:0017042,SNOMED-CT,766928004,NA +GARD:0017042,Orphanet,168632,Exact +GARD:0017042,ICD-10,Q82.5,NTBT +GARD:0017042,UMLS,C1853919,Exact +GARD:0017042,OMIM,605827,Exact +GARD:0017043,SNOMED-CT,721301004,NA +GARD:0017043,Orphanet,168953,Exact +GARD:0017043,ICD-10,D47.1,NTBT +GARD:0017043,OMIM,613523,Exact +GARD:0017043,ICD-11,2A52,Exact +GARD:0017044,Orphanet,168984,Exact +GARD:0017044,OMIM,613089,Exact +GARD:0017044,ICD-10,Q87.3,NTBT +GARD:0017044,SNOMED-CT,717765001,NA +GARD:0017045,SNOMED-CT,720853005,NA +GARD:0017045,Orphanet,169079,Exact +GARD:0017045,ICD-10,D81.1,NTBT +GARD:0017045,OMIM,611291,Exact +GARD:0017046,SNOMED-CT,725135004,NA +GARD:0017046,Orphanet,169082,Exact +GARD:0017046,ICD-10,D81.2,NTBT +GARD:0017046,OMIM,615607,Exact +GARD:0017047,SNOMED-CT,766983005,NA +GARD:0017047,Orphanet,169085,Exact +GARD:0017047,ICD-10,D84.8,NTBT +GARD:0017047,OMIM,608957,Exact +GARD:0017047,UMLS,C1837065,Exact +GARD:0017048,Orphanet,169090,Exact +GARD:0017048,OMIM,612782,BTNT +GARD:0017048,ICD-10,D81.8,NTBT +GARD:0017048,OMIM,612783,BTNT +GARD:0017048,SNOMED-CT,717811007,NA +GARD:0017049,SNOMED-CT,778028008,NA +GARD:0017049,Orphanet,169100,Exact +GARD:0017049,ICD-10,D89.8,NTBT +GARD:0017049,OMIM,606367,Exact +GARD:0017050,SNOMED-CT,234608003,NA +GARD:0017050,Orphanet,169150,Exact +GARD:0017050,OMIM,613790,BTNT +GARD:0017050,OMIM,612446,BTNT +GARD:0017050,OMIM,610102,BTNT +GARD:0017050,OMIM,613789,BTNT +GARD:0017050,OMIM,613825,BTNT +GARD:0017050,OMIM,609536,BTNT +GARD:0017050,ICD-11,4A00.11,Exact +GARD:0017050,ICD-10,D84.1,NTBT +GARD:0017051,Orphanet,169154,Exact +GARD:0017051,OMIM,608971,NTBT +GARD:0017051,ICD-10,D81.2,NTBT +GARD:0017051,UMLS,C1837028,Exact +GARD:0017052,Orphanet,169157,Exact +GARD:0017052,UMLS,C1837028,Exact +GARD:0017052,OMIM,608971,NTBT +GARD:0017052,ICD-10,D81.2,NTBT +GARD:0017053,Orphanet,169160,Exact +GARD:0017053,OMIM,608971,NTBT +GARD:0017053,OMIM,615615,BTNT +GARD:0017053,ICD-10,D81.2,NTBT +GARD:0017053,OMIM,615617,BTNT +GARD:0017053,OMIM,610163,BTNT +GARD:0017054,Orphanet,169464,Exact +GARD:0017054,OMIM,612300,Exact +GARD:0017054,ICD-10,D84.1,NTBT +GARD:0017054,SNOMED-CT,778027003,NA +GARD:0017055,Orphanet,169467,Exact +GARD:0017055,ICD-10,D84.1,NTBT +GARD:0017055,UMLS,C0398764,Exact +GARD:0017055,OMIM,613912,Exact +GARD:0017055,SNOMED-CT,783007005,NA +GARD:0017056,Orphanet,169793,Exact +GARD:0017056,ICD-10,D67,NTBT +GARD:0017056,OMIM,306900,NTBT +GARD:0017057,Orphanet,169796,Exact +GARD:0017057,OMIM,306900,NTBT +GARD:0017057,ICD-10,D67,NTBT +GARD:0017058,Orphanet,169799,Exact +GARD:0017058,ICD-10,D67,NTBT +GARD:0017058,OMIM,306900,NTBT +GARD:0017059,Orphanet,169802,Exact +GARD:0017059,OMIM,306700,NTBT +GARD:0017059,ICD-10,D66,NTBT +GARD:0017059,UMLS,C0272322,Exact +GARD:0017059,SNOMED-CT,16872008,NA +GARD:0017060,Orphanet,169805,Exact +GARD:0017060,ICD-10,D66,NTBT +GARD:0017060,OMIM,306700,NTBT +GARD:0017061,Orphanet,169808,Exact +GARD:0017061,UMLS,C0272324,Exact +GARD:0017061,ICD-10,D66,NTBT +GARD:0017061,OMIM,306700,NTBT +GARD:0017061,SNOMED-CT,26029002,NA +GARD:0017062,Orphanet,171445,Exact +GARD:0017062,ICD-10,G71.8,NTBT +GARD:0017062,UMLS,C1836050,Exact +GARD:0017062,OMIM,609524,Exact +GARD:0017062,SNOMED-CT,764992006,NA +GARD:0017063,SNOMED-CT,763370008,NA +GARD:0017063,Orphanet,171607,Exact +GARD:0017063,UMLS,C2677897,Exact +GARD:0017063,OMIM,300750,Exact +GARD:0017063,ICD-10,G11.4,NTBT +GARD:0017064,Orphanet,171612,Exact +GARD:0017064,UMLS,C2936880,Exact +GARD:0017064,OMIM,611945,Exact +GARD:0017064,ICD-10,G11.4,NTBT +GARD:0017064,SNOMED-CT,763369007,NA +GARD:0017065,Orphanet,171617,Exact +GARD:0017065,OMIM,612335,Exact +GARD:0017065,ICD-10,G11.4,NTBT +GARD:0017065,UMLS,C2676732,Exact +GARD:0017065,SNOMED-CT,783622001,NA +GARD:0017066,Orphanet,171680,Exact +GARD:0017066,OMIM,611603,Exact +GARD:0017066,ICD-10,Q04.3,NTBT +GARD:0017066,SNOMED-CT,718759003,NA +GARD:0017067,Orphanet,171690,Exact +GARD:0017067,UMLS,C1855577,Exact +GARD:0017067,ICD-10,G72.8,NTBT +GARD:0017067,OMIM,245340,Exact +GARD:0017067,SNOMED-CT,766715000,NA +GARD:0017068,SNOMED-CT,763890006,NA +GARD:0017068,Orphanet,171706,Exact +GARD:0017068,ICD-10,E03.1,NTBT +GARD:0017068,OMIM,609698,Exact +GARD:0017069,Orphanet,171719,Exact +GARD:0017069,OMIM,614100,Exact +GARD:0017069,UMLS,C0432335,Exact +GARD:0017069,SNOMED-CT,254221009,NA +GARD:0017070,Orphanet,171844,Exact +GARD:0017070,UMLS,C2676234,Exact +GARD:0017070,OMIM,612445,Exact +GARD:0017070,SNOMED-CT,717920004,NA +GARD:0017071,SNOMED-CT,723452007,NA +GARD:0017071,Orphanet,171848,Exact +GARD:0017071,ICD-10,G60.1,ND (not yet decided/unable to decide) +GARD:0017071,UMLS,C2675204,Exact +GARD:0017071,OMIM,612674,Exact +GARD:0017072,SNOMED-CT,722035007,NA +GARD:0017072,Orphanet,171851,Exact +GARD:0017072,OMIM,609313,Exact +GARD:0017072,UMLS,C1836330,Exact +GARD:0017073,Orphanet,171863,Exact +GARD:0017073,SNOMED-CT,763070001,NA +GARD:0017073,ICD-10,G11.4,NTBT +GARD:0017073,UMLS,C2675528,Exact +GARD:0017073,OMIM,612539,Exact +GARD:0017074,Orphanet,177907,Exact +GARD:0017074,ICD-10,Q87.1,NTBT +GARD:0017074,OMIM,176270,NTBT +GARD:0017075,Orphanet,177910,Exact +GARD:0017075,ICD-10,Q87.1,NTBT +GARD:0017075,OMIM,176270,NTBT +GARD:0017076,Orphanet,177926,Exact +GARD:0017076,ICD-10,D66,NTBT +GARD:0017076,OMIM,306700,NTBT +GARD:0017077,Orphanet,177929,Exact +GARD:0017077,OMIM,306900,NTBT +GARD:0017077,ICD-10,D67,NTBT +GARD:0017078,Orphanet,178145,Exact +GARD:0017078,OMIM,117000,NTBT +GARD:0017078,UMLS,C1861753,Exact +GARD:0017078,ICD-10,G71.2,NTBT +GARD:0017079,SNOMED-CT,239133004,NA +GARD:0017079,Orphanet,178307,Exact +GARD:0017079,UMLS,C0406811,Exact +GARD:0017079,ICD-10,L81.8,NTBT +GARD:0017079,OMIM,615537,Exact +GARD:0017080,Orphanet,178400,Exact +GARD:0017080,OMIM,606768,Exact +GARD:0017080,ICD-10,G71.0,NTBT +GARD:0017080,UMLS,C1847532,Exact +GARD:0017080,SNOMED-CT,782675008,NA +GARD:0017081,Orphanet,178461,Exact +GARD:0017081,SNOMED-CT,773729007,NA +GARD:0017081,OMIM,300696,Exact +GARD:0017081,UMLS,C2678055,Exact +GARD:0017081,ICD-10,G71.0,NTBT +GARD:0017082,SNOMED-CT,720576001,NA +GARD:0017082,Orphanet,178506,Exact +GARD:0017082,OMIM,613658,BTNT +GARD:0017082,ICD-10,G93.8,NTBT +GARD:0017082,OMIM,619013,BTNT +GARD:0017083,SNOMED-CT,785722006,NA +GARD:0017083,Orphanet,179494,Exact +GARD:0017083,OMIM,614963,Exact +GARD:0017083,ICD-10,E66.8,NTBT +GARD:0017084,Orphanet,183663,Exact +GARD:0017084,OMIM,606843,BTNT +GARD:0017084,ICD-10,D80.5,NTBT +GARD:0017084,OMIM,308230,BTNT +GARD:0017084,SNOMED-CT,783248004,NA +GARD:0017085,Orphanet,183666,Exact +GARD:0017085,OMIM,605258,BTNT +GARD:0017085,OMIM,608184,BTNT +GARD:0017085,OMIM,608106,BTNT +GARD:0017085,ICD-10,D80.5,NTBT +GARD:0017085,SNOMED-CT,783249007,NA +GARD:0017086,Orphanet,183675,Exact +GARD:0017086,UMLS,C0162539,Exact +GARD:0017086,UMLS,C3279824,Exact +GARD:0017086,ICD-10,D80.8,NTBT +GARD:0017086,OMIM,614102,Exact +GARD:0017087,SNOMED-CT,723443003,NA +GARD:0017087,Orphanet,183707,Exact +GARD:0017087,OMIM,608203,BTNT +GARD:0017087,UMLS,C1842398,Exact +GARD:0017087,ICD-11,4A00.00,Exact +GARD:0017087,ICD-10,D71,NTBT +GARD:0017087,OMIM,618987,BTNT +GARD:0017088,Orphanet,189466,Exact +GARD:0017088,ICD-10,E20.8,NTBT +GARD:0017088,OMIM,146200,NTBT +GARD:0017089,SNOMED-CT,774066000,NA +GARD:0017089,Orphanet,199279,Exact +GARD:0017089,OMIM,206550,Exact +GARD:0017089,ICD-10,D17.9,NTBT +GARD:0017089,UMLS,C1859784,Exact +GARD:0017090,Orphanet,199285,Exact +GARD:0017090,ICD-10,E50.8,NTBT +GARD:0017090,OMIM,115300,Exact +GARD:0017090,OMIM,277350,BTNT +GARD:0017090,SNOMED-CT,726079008,NA +GARD:0017091,SNOMED-CT,80281008,NA +GARD:0017091,Orphanet,199302,Exact +GARD:0017091,OMIM,608874,BTNT +GARD:0017091,ICD-10,Q36.9,BTNT +GARD:0017091,OMIM,602966,ND (not yet decided/unable to decide) +GARD:0017091,OMIM,612858,ND (not yet decided/unable to decide) +GARD:0017091,MedDRA,10009259,Exact +GARD:0017091,OMIM,600757,ND (not yet decided/unable to decide) +GARD:0017091,OMIM,225060,NTBT +GARD:0017091,UMLS,C0008924,Exact +GARD:0017091,OMIM,119530,ND (not yet decided/unable to decide) +GARD:0017091,OMIM,129400,NTBT +GARD:0017091,ICD-10,Q36.1,BTNT +GARD:0017091,OMIM,608371,ND (not yet decided/unable to decide) +GARD:0017091,ICD-10,Q36.0,BTNT +GARD:0017091,OMIM,610361,ND (not yet decided/unable to decide) +GARD:0017092,Orphanet,199306,Exact +GARD:0017092,ICD-10,Q37.0,BTNT +GARD:0017092,OMIM,613705,BTNT +GARD:0017092,OMIM,225060,NTBT +GARD:0017092,OMIM,618149,BTNT +GARD:0017092,ICD-10,Q37.2,BTNT +GARD:0017092,OMIM,602966,ND (not yet decided/unable to decide) +GARD:0017092,OMIM,612858,ND (not yet decided/unable to decide) +GARD:0017092,OMIM,608874,BTNT +GARD:0017092,OMIM,608864,BTNT +GARD:0017092,ICD-10,Q37.3,BTNT +GARD:0017092,UMLS,C0158646,Exact +GARD:0017092,ICD-10,Q37.8,BTNT +GARD:0017092,OMIM,129400,NTBT +GARD:0017092,OMIM,600625,BTNT +GARD:0017092,ICD-10,Q37.5,BTNT +GARD:0017092,OMIM,616788,BTNT +GARD:0017092,ICD-10,Q37.1,BTNT +GARD:0017092,OMIM,119530,ND (not yet decided/unable to decide) +GARD:0017092,ICD-10,Q37.4,BTNT +GARD:0017092,SNOMED-CT,66948001,NA +GARD:0017092,OMIM,608371,ND (not yet decided/unable to decide) +GARD:0017092,MedDRA,10009260,Exact +GARD:0017092,OMIM,600757,ND (not yet decided/unable to decide) +GARD:0017092,OMIM,610361,ND (not yet decided/unable to decide) +GARD:0017092,ICD-10,Q37.9,BTNT +GARD:0017093,Orphanet,199315,Exact +GARD:0017093,OMIM,613618,BTNT +GARD:0017093,ICD-10,Q66.8,NTBT +GARD:0017093,OMIM,119800,BTNT +GARD:0017094,SNOMED-CT,723309006,NA +GARD:0017094,Orphanet,199332,Exact +GARD:0017094,OMIM,612651,Exact +GARD:0017094,ICD-10,Q87.8,NTBT +GARD:0017095,SNOMED-CT,722207000,NA +GARD:0017095,Orphanet,199337,Exact +GARD:0017095,UMLS,C2675184,Exact +GARD:0017095,ICD-10,E88.8,NTBT +GARD:0017095,OMIM,612714,Exact +GARD:0017096,Orphanet,199340,Exact +GARD:0017096,UMLS,C2751831,Exact +GARD:0017096,OMIM,612954,Exact +GARD:0017096,ICD-10,G71.8,NTBT +GARD:0017096,SNOMED-CT,723407009,NA +GARD:0017097,Orphanet,199348,Exact +GARD:0017097,ICD-10,E51.2,NTBT +GARD:0017097,OMIM,607483,NTBT +GARD:0017097,SNOMED-CT,723557004,NA +GARD:0017098,SNOMED-CT,783621008,NA +GARD:0017098,Orphanet,200418,Exact +GARD:0017098,UMLS,C3463916,Exact +GARD:0017098,ICD-10,D84.1,NTBT +GARD:0017098,OMIM,610984,Exact +GARD:0017099,Orphanet,200421,Exact +GARD:0017099,ICD-10,D84.1,NTBT +GARD:0017099,OMIM,609814,NTBT +GARD:0017099,UMLS,C0398777,Exact +GARD:0017099,SNOMED-CT,234622003,NA +GARD:0017100,Orphanet,206484,Exact +GARD:0017100,OMIM,424500,Exact +GARD:0017100,ICD-10,D39.1,NTBT +GARD:0017100,SNOMED-CT,716594002,NA +GARD:0017101,SNOMED-CT,771302009,NA +GARD:0017101,Orphanet,206580,Exact +GARD:0017101,UMLS,C1970211,Exact +GARD:0017101,OMIM,611067,Exact +GARD:0017101,ICD-10,G12.2,NTBT +GARD:0017102,Orphanet,209335,Exact +GARD:0017102,OMIM,182980,Exact +GARD:0017102,UMLS,C1854058,Exact +GARD:0017102,UMLS,C1866777,Exact +GARD:0017102,ICD-10,G12.1,NTBT +GARD:0017102,SNOMED-CT,784391002,NA +GARD:0017103,Orphanet,209370,Exact +GARD:0017103,OMIM,300673,Exact +GARD:0017103,ICD-10,Q02,NTBT +GARD:0017103,SNOMED-CT,771303004,NA +GARD:0017104,SNOMED-CT,773727009,NA +GARD:0017104,Orphanet,209867,Exact +GARD:0017104,OMIM,609508,NTBT +GARD:0017104,UMLS,C1836081,Exact +GARD:0017104,ICD-10,H33.0,NTBT +GARD:0017105,Orphanet,209916,Exact +GARD:0017105,ICD-10,C49.9,NTBT +GARD:0017105,OMIM,612237,Exact +GARD:0017105,SNOMED-CT,404079008,NA +GARD:0017105,UMLS,C1275278,Exact +GARD:0017106,Orphanet,209919,Exact +GARD:0017106,SNOMED-CT,715864007,NA +GARD:0017106,ICD-11,DB93.21,Exact +GARD:0017106,OMIM,215600,NTBT +GARD:0017106,ICD-10,K74.6,NTBT +GARD:0017107,SNOMED-CT,718753002,NA +GARD:0017107,Orphanet,209967,Exact +GARD:0017107,ICD-10,G11.8,NTBT +GARD:0017107,OMIM,612656,Exact +GARD:0017107,UMLS,C2675211,Exact +GARD:0017108,SNOMED-CT,718752007,NA +GARD:0017108,Orphanet,209970,Exact +GARD:0017108,OMIM,611907,Exact +GARD:0017108,ICD-10,G11.8,NTBT +GARD:0017108,UMLS,C2677843,Exact +GARD:0017109,Orphanet,210141,Exact +GARD:0017109,OMIM,617008,BTNT +GARD:0017109,OMIM,612900,BTNT +GARD:0017109,ICD-10,G82.4,NTBT +GARD:0017109,SNOMED-CT,782887003,NA +GARD:0017110,SNOMED-CT,778026007,NA +GARD:0017110,Orphanet,210144,Exact +GARD:0017110,ICD-10,Q87.8,NTBT +GARD:0017110,UMLS,C2752001,Exact +GARD:0017110,OMIM,612938,Exact +GARD:0017111,SNOMED-CT,773306002,NA +GARD:0017111,Orphanet,210163,Exact +GARD:0017111,ICD-10,G71.2,NTBT +GARD:0017111,OMIM,612540,Exact +GARD:0017112,Orphanet,210548,Exact +GARD:0017112,UMLS,C1854416,Exact +GARD:0017112,OMIM,613926,BTNT +GARD:0017112,OMIM,605309,Exact +GARD:0017112,SNOMED-CT,783089006,NA +GARD:0017113,Orphanet,211067,Exact +GARD:0017113,UMLS,C1866039,Exact +GARD:0017113,OMIM,613855,Exact +GARD:0017113,ICD-10,G11.8,NTBT +GARD:0017113,SNOMED-CT,718756005,NA +GARD:0017114,Orphanet,216866,Exact +GARD:0017114,OMIM,234200,NTBT +GARD:0017114,ICD-10,G23.0,NTBT +GARD:0017115,Orphanet,216873,Exact +GARD:0017115,OMIM,234200,NTBT +GARD:0017115,ICD-10,G23.0,NTBT +GARD:0017116,Orphanet,217026,Exact +GARD:0017116,OMIM,612946,Exact +GARD:0017116,ICD-10,Q87.8,NTBT +GARD:0017116,UMLS,C2751878,Exact +GARD:0017116,SNOMED-CT,719395001,NA +GARD:0017117,Orphanet,217059,Exact +GARD:0017117,UMLS,C0345408,Exact +GARD:0017117,OMIM,119900,Exact +GARD:0017117,ICD-10,Q68.1,NTBT +GARD:0017117,ICD-11,LB90.5,Exact +GARD:0017118,Orphanet,217085,Exact +GARD:0017118,ICD-10,E76.1,NTBT +GARD:0017118,OMIM,309900,NTBT +GARD:0017119,Orphanet,217093,Exact +GARD:0017119,ICD-10,E76.1,NTBT +GARD:0017119,OMIM,309900,NTBT +GARD:0017120,Orphanet,217335,Exact +GARD:0017120,UMLS,C2751321,Exact +GARD:0017120,OMIM,613075,Exact +GARD:0017120,ICD-10,Q82.8,NTBT +GARD:0017120,SNOMED-CT,723367005,NA +GARD:0017121,Orphanet,217340,Exact +GARD:0017121,ICD-10,Q92.3,NTBT +GARD:0017121,OMIM,613533,Exact +GARD:0017121,SNOMED-CT,716683005,NA +GARD:0017122,SNOMED-CT,719582007,NA +GARD:0017122,Orphanet,217385,Exact +GARD:0017122,UMLS,C2750748,Exact +GARD:0017122,ICD-10,Q92.3,NTBT +GARD:0017122,OMIM,613215,Exact +GARD:0017123,Orphanet,217396,Exact +GARD:0017123,OMIM,613710,Exact +GARD:0017123,ICD-10,E88.8,NTBT +GARD:0017123,SNOMED-CT,771305006,NA +GARD:0017124,SNOMED-CT,724350009,NA +GARD:0017124,Orphanet,217407,Exact +GARD:0017124,OMIM,613102,Exact +GARD:0017125,SNOMED-CT,783250007,NA +GARD:0017125,Orphanet,217467,Exact +GARD:0017125,OMIM,613116,Exact +GARD:0017125,ICD-10,D68.5,NTBT +GARD:0017126,Orphanet,217563,Exact +GARD:0017126,ICD-10,P28.0,NTBT +GARD:0017126,OMIM,265120,Exact +GARD:0017127,Orphanet,217566,Exact +GARD:0017127,OMIM,610913,NTBT +GARD:0017127,ICD-10,J84.8,NTBT +GARD:0017127,SNOMED-CT,783182004,NA +GARD:0017128,Orphanet,217622,Exact +GARD:0017128,ICD-10,I42.0,NTBT +GARD:0017128,OMIM,605362,Exact +GARD:0017128,SNOMED-CT,723993005,NA +GARD:0017129,Orphanet,217656,Exact +GARD:0017129,OMIM,609040,BTNT +GARD:0017129,OMIM,610193,BTNT +GARD:0017129,OMIM,615616,BTNT +GARD:0017129,OMIM,604400,BTNT +GARD:0017129,OMIM,607450,BTNT +GARD:0017129,OMIM,600996,BTNT +GARD:0017129,OMIM,602087,BTNT +GARD:0017129,OMIM,604401,BTNT +GARD:0017129,ICD-10,I42.8,NTBT +GARD:0017129,OMIM,107970,Exact +GARD:0017129,OMIM,611528,BTNT +GARD:0017129,OMIM,610476,BTNT +GARD:0017129,OMIM,602086,BTNT +GARD:0017129,SNOMED-CT,715865008,NA +GARD:0017130,Orphanet,220295,Exact +GARD:0017130,OMIM,610651,BTNT +GARD:0017130,OMIM,278780,BTNT +GARD:0017130,ICD-10,Q87.1,ND (not yet decided/unable to decide) +GARD:0017130,ICD-10,Q82.1,ND (not yet decided/unable to decide) +GARD:0017130,OMIM,278760,BTNT +GARD:0017130,OMIM,278730,BTNT +GARD:0017130,SNOMED-CT,719819004,NA +GARD:0017131,Orphanet,220386,Exact +GARD:0017131,OMIM,301043,NTBT +GARD:0017131,OMIM,610829,NTBT +GARD:0017131,OMIM,609637,NTBT +GARD:0017131,UMLS,C0751617,Exact +GARD:0017131,ICD-10,Q04.2,NTBT +GARD:0017131,OMIM,157170,NTBT +GARD:0017131,SNOMED-CT,253138008,NA +GARD:0017132,Orphanet,220443,Exact +GARD:0017132,ICD-11,3B62.1,Exact +GARD:0017132,ICD-10,D69.8,NTBT +GARD:0017132,OMIM,614009,Exact +GARD:0017132,SNOMED-CT,783194008,NA +GARD:0017133,SNOMED-CT,724179008,NA +GARD:0017133,Orphanet,220465,Exact +GARD:0017133,ICD-10,E34.3,NTBT +GARD:0017133,OMIM,618985,BTNT +GARD:0017133,ICD-10,D82.8,NTBT +GARD:0017133,OMIM,245590,BTNT +GARD:0017134,Orphanet,221008,Exact +GARD:0017134,ICD-10,Q82.8,NTBT +GARD:0017134,OMIM,268400,NTBT +GARD:0017134,OMIM,618625,Exact +GARD:0017135,Orphanet,221016,Exact +GARD:0017135,OMIM,268400,NTBT +GARD:0017135,ICD-10,Q82.8,NTBT +GARD:0017136,Orphanet,221039,Exact +GARD:0017136,UMLS,C1275083,Exact +GARD:0017136,OMIM,173700,Exact +GARD:0017136,ICD-10,Q82.8,NTBT +GARD:0017136,SNOMED-CT,403774004,NA +GARD:0017137,Orphanet,221083,Exact +GARD:0017137,ICD-10,G51.3,Exact +GARD:0017137,OMIM,141405,Exact +GARD:0017137,ICD-11,8B88.2,Exact +GARD:0017138,SNOMED-CT,253158009,NA +GARD:0017138,Orphanet,221126,Exact +GARD:0017138,MedDRA,10071718,Exact +GARD:0017138,UMLS,C1856972,Exact +GARD:0017138,UMLS,C3203738,Exact +GARD:0017138,OMIM,225790,Exact +GARD:0017139,SNOMED-CT,770625006,NA +GARD:0017139,Orphanet,221139,Exact +GARD:0017139,ICD-10,Q87.8,NTBT +GARD:0017139,OMIM,613328,Exact +GARD:0017139,UMLS,C2750068,Exact +GARD:0017140,Orphanet,221145,Exact +GARD:0017140,UMLS,C2750804,Exact +GARD:0017140,ICD-10,Q82.8,NTBT +GARD:0017140,OMIM,613177,Exact +GARD:0017140,SNOMED-CT,784349004,NA +GARD:0017141,Orphanet,225154,Exact +GARD:0017141,OMIM,271930,Exact +GARD:0017141,ICD-10,G23.2,NTBT +GARD:0017141,OMIM,500003,BTNT +GARD:0017142,SNOMED-CT,254843006,NA +GARD:0017142,Orphanet,227535,Exact +GARD:0017142,ICD-10,C50.5,BTNT +GARD:0017142,ICD-10,C50.1,BTNT +GARD:0017142,UMLS,C0346153,Exact +GARD:0017142,OMIM,613399,NTBT +GARD:0017142,ICD-10,C50.2,BTNT +GARD:0017142,ICD-10,C50.8,BTNT +GARD:0017142,ICD-10,C50.4,BTNT +GARD:0017142,OMIM,604370,NTBT +GARD:0017142,OMIM,114480,NTBT +GARD:0017142,ICD-10,C50.0,BTNT +GARD:0017142,ICD-10,C50.3,BTNT +GARD:0017142,ICD-10,C50.6,BTNT +GARD:0017142,OMIM,612555,NTBT +GARD:0017143,SNOMED-CT,783065004,NA +GARD:0017143,Orphanet,227976,Exact +GARD:0017143,OMIM,612989,Exact +GARD:0017143,ICD-10,H47.2,NTBT +GARD:0017144,Orphanet,228003,Exact +GARD:0017144,OMIM,615401,Exact +GARD:0017144,ICD-10,D81.2,NTBT +GARD:0017145,SNOMED-CT,719272007,NA +GARD:0017145,Orphanet,228012,Exact +GARD:0017145,OMIM,606346,NTBT +GARD:0017145,ICD-10,H90.3,NTBT +GARD:0017146,SNOMED-CT,725392005,NA +GARD:0017146,Orphanet,228169,Exact +GARD:0017146,UMLS,C1836694,Exact +GARD:0017146,ICD-10,G31.8,NTBT +GARD:0017146,OMIM,609161,Exact +GARD:0017147,SNOMED-CT,719514002,NA +GARD:0017147,Orphanet,228179,Exact +GARD:0017147,UMLS,C1847902,Exact +GARD:0017147,OMIM,606482,NTBT +GARD:0017147,ICD-10,G60.0,NTBT +GARD:0017148,Orphanet,228190,Exact +GARD:0017148,UMLS,C1858420,Exact +GARD:0017148,SNOMED-CT,722211006,NA +GARD:0017148,OMIM,604381,Exact +GARD:0017148,ICD-10,Q87.2,NTBT +GARD:0017149,Orphanet,228302,Exact +GARD:0017149,ICD-10,E71.3,NTBT +GARD:0017149,OMIM,255110,Exact +GARD:0017149,UMLS,C1833508,Exact +GARD:0017150,Orphanet,228305,Exact +GARD:0017150,OMIM,600649,Exact +GARD:0017150,ICD-10,E71.3,NTBT +GARD:0017150,UMLS,C1833511,Exact +GARD:0017151,Orphanet,228308,Exact +GARD:0017151,ICD-10,E71.3,NTBT +GARD:0017151,UMLS,C1833518,Exact +GARD:0017151,OMIM,608836,Exact +GARD:0017152,Orphanet,228354,Exact +GARD:0017152,OMIM,600143,Exact +GARD:0017152,UMLS,C1838570,Exact +GARD:0017152,ICD-10,E75.4,NTBT +GARD:0017153,SNOMED-CT,771307003,NA +GARD:0017153,Orphanet,228374,Exact +GARD:0017153,ICD-10,G60.0,NTBT +GARD:0017153,OMIM,607734,NTBT +GARD:0017154,Orphanet,228387,Exact +GARD:0017154,UMLS,C2750066,Exact +GARD:0017154,ICD-10,Q77.7,NTBT +GARD:0017154,OMIM,613330,Exact +GARD:0017154,SNOMED-CT,773693005,NA +GARD:0017155,Orphanet,229717,Exact +GARD:0017155,OMIM,300310,BTNT +GARD:0017155,OMIM,613506,BTNT +GARD:0017155,OMIM,613500,BTNT +GARD:0017155,OMIM,615214,BTNT +GARD:0017155,OMIM,613501,BTNT +GARD:0017155,UMLS,C0001768,Exact +GARD:0017155,OMIM,613502,BTNT +GARD:0017155,ICD-11,4A01.00,NTBT +GARD:0017155,OMIM,601495,BTNT +GARD:0017155,OMIM,612692,BTNT +GARD:0017155,OMIM,616941,BTNT +GARD:0017155,UMLS,C0086438,Exact +GARD:0017155,OMIM,300755,BTNT +GARD:0017155,ICD-10,D80.0,Exact +GARD:0017155,SNOMED-CT,764858009,NA +GARD:0017156,Orphanet,230857,Exact +GARD:0017156,ICD-10,Q79.6,NTBT +GARD:0017156,OMIM,619120,BTNT +GARD:0017156,OMIM,619115,BTNT +GARD:0017156,SNOMED-CT,733457006,NA +GARD:0017157,Orphanet,231031,Exact +GARD:0017157,UMLS,C1851502,Exact +GARD:0017157,SNOMED-CT,763767006,NA +GARD:0017157,OMIM,133000,Exact +GARD:0017157,ICD-10,L59.8,NTBT +GARD:0017158,Orphanet,231040,Exact +GARD:0017158,ICD-10,L81.4,NTBT +GARD:0017158,OMIM,151001,Exact +GARD:0017158,SNOMED-CT,765195000,NA +GARD:0017159,Orphanet,231108,Exact +GARD:0017159,OMIM,613325,BTNT +GARD:0017159,OMIM,609322,BTNT +GARD:0017159,ICD-10,C49.9,NTBT +GARD:0017160,Orphanet,231120,Exact +GARD:0017160,ICD-10,Q87.3,NTBT +GARD:0017160,OMIM,130650,NTBT +GARD:0017161,SNOMED-CT,703226008,NA +GARD:0017161,Orphanet,231160,Exact +GARD:0017161,OMIM,611892,BTNT +GARD:0017161,OMIM,612586,BTNT +GARD:0017161,OMIM,609122,BTNT +GARD:0017161,ICD-11,8B22.6,Exact +GARD:0017161,OMIM,608542,BTNT +GARD:0017161,OMIM,612162,BTNT +GARD:0017161,OMIM,300870,BTNT +GARD:0017161,OMIM,610213,BTNT +GARD:0017161,OMIM,618734,BTNT +GARD:0017161,ICD-10,I67.1,NTBT +GARD:0017161,OMIM,612587,BTNT +GARD:0017161,OMIM,612161,BTNT +GARD:0017161,OMIM,614252,BTNT +GARD:0017161,OMIM,105800,Exact +GARD:0017162,Orphanet,231214,Exact +GARD:0017162,ICD-10,D56.1,NTBT +GARD:0017162,OMIM,613985,NTBT +GARD:0017162,UMLS,C0002875,Exact +GARD:0017162,SNOMED-CT,26682008,NA +GARD:0017163,Orphanet,231222,Exact +GARD:0017163,MedDRA,10062923,Exact +GARD:0017163,ICD-10,D56.1,NTBT +GARD:0017163,OMIM,613985,NTBT +GARD:0017163,UMLS,C0472767,Exact +GARD:0017163,SNOMED-CT,191189009,NA +GARD:0017164,SNOMED-CT,716682000,NA +GARD:0017164,Orphanet,231226,Exact +GARD:0017164,ICD-10,D56.1,NTBT +GARD:0017164,UMLS,C1858990,Exact +GARD:0017164,OMIM,603902,Exact +GARD:0017165,Orphanet,231237,Exact +GARD:0017165,ICD-10,D56.2,Exact +GARD:0017165,OMIM,141749,NTBT +GARD:0017165,UMLS,C0271985,Exact +GARD:0017165,ICD-11,3A50.3,NTBT +GARD:0017165,MedDRA,10012236,Exact +GARD:0017165,SNOMED-CT,16360009,NA +GARD:0017166,SNOMED-CT,718196002,NA +GARD:0017166,Orphanet,231393,Exact +GARD:0017166,OMIM,314050,Exact +GARD:0017166,ICD-10,D69.4,NTBT +GARD:0017167,Orphanet,231401,Exact +GARD:0017167,ICD-10,D56.0,NTBT +GARD:0017167,ICD-10,D46.7,NTBT +GARD:0017167,OMIM,300448,Exact +GARD:0017167,UMLS,C0585216,Exact +GARD:0017168,Orphanet,231500,Exact +GARD:0017168,ICD-10,E70.3,NTBT +GARD:0017168,OMIM,614073,BTNT +GARD:0017168,OMIM,203300,BTNT +GARD:0017169,Orphanet,231512,Exact +GARD:0017169,ICD-10,E70.3,NTBT +GARD:0017169,OMIM,614074,BTNT +GARD:0017169,OMIM,614072,BTNT +GARD:0017169,OMIM,614075,BTNT +GARD:0017170,Orphanet,231531,Exact +GARD:0017170,OMIM,614171,BTNT +GARD:0017170,ICD-10,E70.3,NTBT +GARD:0017170,OMIM,619172,BTNT +GARD:0017170,OMIM,614077,BTNT +GARD:0017170,OMIM,614076,BTNT +GARD:0017171,Orphanet,238329,Exact +GARD:0017171,OMIM,300816,Exact +GARD:0017171,ICD-10,E88.8,NTBT +GARD:0017171,SNOMED-CT,722212004,NA +GARD:0017172,Orphanet,238446,Exact +GARD:0017172,UMLS,C2675336,Exact +GARD:0017172,ICD-10,Q92.3,NTBT +GARD:0017172,OMIM,608636,NTBT +GARD:0017172,SNOMED-CT,719427001,NA +GARD:0017173,Orphanet,238475,Exact +GARD:0017173,UMLS,C1843139,Exact +GARD:0017173,ICD-10,E88.8,NTBT +GARD:0017173,OMIM,607748,BTNT +GARD:0017173,SNOMED-CT,723360007,NA +GARD:0017173,OMIM,619256,BTNT +GARD:0017174,Orphanet,238505,Exact +GARD:0017174,OMIM,615122,Exact +GARD:0017174,ICD-10,D47.9,NTBT +GARD:0017174,SNOMED-CT,771309000,NA +GARD:0017175,SNOMED-CT,778025006,NA +GARD:0017175,Orphanet,238523,Exact +GARD:0017175,ICD-10,E72.0,NTBT +GARD:0017175,OMIM,606407,NTBT +GARD:0017176,Orphanet,238557,Exact +GARD:0017176,SNOMED-CT,770407006,NA +GARD:0017176,ICD-10,D75.1,NTBT +GARD:0017176,OMIM,263400,Exact +GARD:0017177,Orphanet,238578,Exact +GARD:0017177,OMIM,613618,Exact +GARD:0017177,ICD-10,Q66.8,NTBT +GARD:0017178,Orphanet,238613,Exact +GARD:0017178,OMIM,130650,NTBT +GARD:0017178,ICD-10,Q87.3,NTBT +GARD:0017179,SNOMED-CT,10736002,NA +GARD:0017179,Orphanet,238670,Exact +GARD:0017179,ICD-10,E03.1,NTBT +GARD:0017179,OMIM,275120,Exact +GARD:0017180,Orphanet,238744,Exact +GARD:0017180,ICD-10,Q87.2,NTBT +GARD:0017180,OMIM,613689,Exact +GARD:0017180,SNOMED-CT,718679004,NA +GARD:0017181,SNOMED-CT,719660008,NA +GARD:0017181,Orphanet,238750,Exact +GARD:0017181,ICD-10,Q93.5,NTBT +GARD:0017181,OMIM,613509,Exact +GARD:0017182,Orphanet,240071,Exact +GARD:0017182,ICD-10,G23.1,NTBT +GARD:0017182,OMIM,610898,BTNT +GARD:0017182,OMIM,609454,BTNT +GARD:0017182,OMIM,601104,Exact +GARD:0017182,UMLS,C0038868,Exact +GARD:0017183,Orphanet,240085,Exact +GARD:0017183,OMIM,260540,Exact +GARD:0017183,ICD-10,G23.1,NTBT +GARD:0017184,SNOMED-CT,766753005,NA +GARD:0017184,Orphanet,240760,Exact +GARD:0017184,OMIM,613078,Exact +GARD:0017184,UMLS,C2751318,Exact +GARD:0017185,Orphanet,243343,Exact +GARD:0017185,UMLS,C1853892,Exact +GARD:0017185,ICD-10,E72.5,NTBT +GARD:0017185,OMIM,605850,Exact +GARD:0017185,SNOMED-CT,719449007,NA +GARD:0017186,Orphanet,244305,Exact +GARD:0017186,OMIM,612287,BTNT +GARD:0017186,OMIM,612286,BTNT +GARD:0017186,ICD-10,N25.8,NTBT +GARD:0017186,SNOMED-CT,783620009,NA +GARD:0017187,Orphanet,247198,Exact +GARD:0017187,OMIM,615851,BTNT +GARD:0017187,ICD-10,G31.8,NTBT +GARD:0017188,Orphanet,247262,Exact +GARD:0017188,OMIM,614749,BTNT +GARD:0017188,OMIM,616025,BTNT +GARD:0017188,OMIM,239300,BTNT +GARD:0017188,OMIM,615716,BTNT +GARD:0017188,UMLS,C1855923,Exact +GARD:0017188,OMIM,616809,BTNT +GARD:0017188,OMIM,614207,BTNT +GARD:0017189,Orphanet,247511,Exact +GARD:0017189,ICD-10,D75.1,NTBT +GARD:0017189,OMIM,611783,BTNT +GARD:0017189,OMIM,609820,BTNT +GARD:0017189,SNOMED-CT,783202008,NA +GARD:0017190,SNOMED-CT,719282008,NA +GARD:0017190,Orphanet,247522,Exact +GARD:0017190,OMIM,300455,Exact +GARD:0017191,Orphanet,247623,Exact +GARD:0017191,OMIM,241500,NTBT +GARD:0017191,UMLS,C2673477,Exact +GARD:0017191,ICD-10,E83.3,NTBT +GARD:0017192,Orphanet,247651,Exact +GARD:0017192,SNOMED-CT,55236002,NA +GARD:0017192,OMIM,241500,Exact +GARD:0017192,UMLS,C0268412,Exact +GARD:0017192,ICD-10,E83.3,NTBT +GARD:0017193,Orphanet,247676,Exact +GARD:0017193,SNOMED-CT,20756002,NA +GARD:0017193,UMLS,C0268413,Exact +GARD:0017193,ICD-10,E83.3,NTBT +GARD:0017193,OMIM,146300,Exact +GARD:0017194,Orphanet,247685,Exact +GARD:0017194,ICD-10,E83.3,NTBT +GARD:0017194,UMLS,C1840322,Exact +GARD:0017194,OMIM,146300,NTBT +GARD:0017195,Orphanet,247768,Exact +GARD:0017195,ICD-10,Q51.8,NTBT +GARD:0017195,UMLS,C2675014,Exact +GARD:0017195,OMIM,158330,Exact +GARD:0017196,Orphanet,247794,Exact +GARD:0017196,ICD-10,E88.8,NTBT +GARD:0017196,OMIM,612018,Exact +GARD:0017196,SNOMED-CT,722457005,NA +GARD:0017197,Orphanet,247806,Exact +GARD:0017197,ICD-10,D12.6,NTBT +GARD:0017197,OMIM,175100,NTBT +GARD:0017198,Orphanet,247820,Exact +GARD:0017198,OMIM,613573,Exact +GARD:0017198,ICD-10,Q82.8,NTBT +GARD:0017198,SNOMED-CT,771335004,NA +GARD:0017199,Orphanet,247827,Exact +GARD:0017199,ICD-10,Q82.8,NTBT +GARD:0017199,OMIM,613576,Exact +GARD:0017200,Orphanet,247834,Exact +GARD:0017200,ICD-10,H35.5,NTBT +GARD:0017200,OMIM,613587,Exact +GARD:0017200,SNOMED-CT,770667002,NA +GARD:0017201,SNOMED-CT,783146009,NA +GARD:0017201,Orphanet,247868,Exact +GARD:0017201,ICD-10,E85.0,NTBT +GARD:0017201,OMIM,611762,Exact +GARD:0017201,UMLS,C2673198,Exact +GARD:0017202,Orphanet,248408,Exact +GARD:0017202,OMIM,616004,NTBT +GARD:0017202,ICD-10,D68.2,NTBT +GARD:0017202,UMLS,C0272350,Exact +GARD:0017202,SNOMED-CT,234458004,NA +GARD:0017203,Orphanet,250984,Exact +GARD:0017203,OMIM,614134,BTNT +GARD:0017203,OMIM,614284,BTNT +GARD:0017203,ICD-10,Q87.5,NTBT +GARD:0017204,Orphanet,251028,Exact +GARD:0017204,ICD-10,Q93.5,NTBT +GARD:0017204,OMIM,612313,NTBT +GARD:0017204,SNOMED-CT,763062006,NA +GARD:0017205,Orphanet,251279,Exact +GARD:0017205,ICD-10,Q15.8,NTBT +GARD:0017205,UMLS,C1970236,Exact +GARD:0017205,OMIM,611040,Exact +GARD:0017205,SNOMED-CT,778021002,NA +GARD:0017206,SNOMED-CT,784380009,NA +GARD:0017206,Orphanet,251282,Exact +GARD:0017206,OMIM,108600,Exact +GARD:0017206,UMLS,C1970107,Exact +GARD:0017206,ICD-10,G11.4,NTBT +GARD:0017207,Orphanet,251290,Exact +GARD:0017207,OMIM,168550,Exact +GARD:0017207,ICD-10,Q74.0,NTBT +GARD:0017207,UMLS,C1868597,Exact +GARD:0017207,SNOMED-CT,771338002,NA +GARD:0017208,Orphanet,251295,Exact +GARD:0017208,ICD-10,H35.5,NTBT +GARD:0017208,UMLS,C1868310,Exact +GARD:0017208,OMIM,172870,Exact +GARD:0017208,SNOMED-CT,723450004,NA +GARD:0017209,Orphanet,251347,Exact +GARD:0017209,ICD-10,G11.3,NTBT +GARD:0017209,SNOMED-CT,700058006,NA +GARD:0017209,UMLS,C1859598,Exact +GARD:0017209,OMIM,604391,Exact +GARD:0017209,UMLS,C1858391,Exact +GARD:0017210,Orphanet,251383,Exact +GARD:0017210,OMIM,300831,Exact +GARD:0017210,SNOMED-CT,773329005,NA +GARD:0017211,SNOMED-CT,725045004,NA +GARD:0017211,Orphanet,251510,Exact +GARD:0017211,OMIM,613762,BTNT +GARD:0017211,ICD-10,Q56.1,NTBT +GARD:0017211,OMIM,616067,BTNT +GARD:0017211,OMIM,615542,BTNT +GARD:0017211,OMIM,154230,BTNT +GARD:0017211,OMIM,616425,BTNT +GARD:0017211,OMIM,300018,BTNT +GARD:0017211,OMIM,612965,BTNT +GARD:0017212,Orphanet,251515,Exact +GARD:0017212,UMLS,C1861238,Exact +GARD:0017212,OMIM,187370,NTBT +GARD:0017212,ICD-10,Q68.8,NTBT +GARD:0017213,SNOMED-CT,771339005,NA +GARD:0017213,Orphanet,251523,Exact +GARD:0017213,UMLS,C1860229,Exact +GARD:0017213,ICD-10,E83.2,NTBT +GARD:0017213,OMIM,194470,NTBT +GARD:0017214,Orphanet,251858,Exact +GARD:0017214,ICD-10,C71.6,NTBT +GARD:0017214,OMIM,155255,NTBT +GARD:0017215,SNOMED-CT,1156460002,NA +GARD:0017215,Orphanet,251863,Exact +GARD:0017215,UMLS,C0751291,Exact +GARD:0017215,OMIM,155255,NTBT +GARD:0017215,ICD-10,C71.6,NTBT +GARD:0017216,Orphanet,251867,Exact +GARD:0017216,ICD-10,C71.6,NTBT +GARD:0017216,OMIM,155255,NTBT +GARD:0017217,SNOMED-CT,764946008,NA +GARD:0017217,Orphanet,252202,Exact +GARD:0017217,OMIM,619097,BTNT +GARD:0017217,OMIM,276300,BTNT +GARD:0017217,OMIM,619101,BTNT +GARD:0017217,ICD-10,D80.8,NTBT +GARD:0017217,OMIM,619096,BTNT +GARD:0017218,Orphanet,254351,Exact +GARD:0017218,OMIM,613729,Exact +GARD:0017218,ICD-10,Q93.5,NTBT +GARD:0017218,SNOMED-CT,770905005,NA +GARD:0017219,SNOMED-CT,770907002,NA +GARD:0017219,Orphanet,254519,Exact +GARD:0017219,OMIM,608149,Exact +GARD:0017220,Orphanet,254525,Exact +GARD:0017220,ICD-10,Q93.5,NTBT +GARD:0017220,OMIM,616222,NTBT +GARD:0017221,Orphanet,254528,Exact +GARD:0017221,OMIM,608149,NTBT +GARD:0017221,ICD-10,Q93.5,NTBT +GARD:0017222,Orphanet,254531,Exact +GARD:0017222,OMIM,616222,NTBT +GARD:0017223,Orphanet,254534,Exact +GARD:0017223,ICD-10,Q99.8,NTBT +GARD:0017223,OMIM,608149,NTBT +GARD:0017224,SNOMED-CT,237249000,NA +GARD:0017224,Orphanet,254688,Exact +GARD:0017224,OMIM,618431,BTNT +GARD:0017224,UMLS,C0678213,Exact +GARD:0017224,OMIM,231090,BTNT +GARD:0017224,OMIM,614293,BTNT +GARD:0017224,OMIM,618432,BTNT +GARD:0017224,ICD-10,O01.0,Exact +GARD:0017224,ICD-11,JA02.0,Exact +GARD:0017225,SNOMED-CT,765401006,NA +GARD:0017225,Orphanet,254803,Exact +GARD:0017225,OMIM,612075,BTNT +GARD:0017225,OMIM,612073,BTNT +GARD:0017225,ICD-10,E88.8,NTBT +GARD:0017226,SNOMED-CT,766251006,NA +GARD:0017226,Orphanet,254857,Exact +GARD:0017226,UMLS,C1838876,Exact +GARD:0017226,ICD-10,G71.3,NTBT +GARD:0017226,OMIM,551000,Exact +GARD:0017227,Orphanet,254864,Exact +GARD:0017227,ICD-10,G71.3,NTBT +GARD:0017227,OMIM,500009,Exact +GARD:0017227,SNOMED-CT,784370005,NA +GARD:0017228,Orphanet,254875,Exact +GARD:0017228,OMIM,618972,BTNT +GARD:0017228,OMIM,609560,BTNT +GARD:0017228,UMLS,C3501891,Exact +GARD:0017228,ICD-10,G71.3,NTBT +GARD:0017229,Orphanet,254881,Exact +GARD:0017229,ICD-10,E88.8,NTBT +GARD:0017229,OMIM,607459,NTBT +GARD:0017229,UMLS,C1843851,Exact +GARD:0017229,UMLS,C1843852,Exact +GARD:0017229,SNOMED-CT,699328003,NA +GARD:0017230,SNOMED-CT,763688008,NA +GARD:0017230,Orphanet,254898,Exact +GARD:0017230,OMIM,614651,Exact +GARD:0017230,ICD-10,E88.8,NTBT +GARD:0017231,SNOMED-CT,717053007,NA +GARD:0017231,Orphanet,254902,Exact +GARD:0017231,OMIM,124000,NTBT +GARD:0017231,ICD-10,E88.8,NTBT +GARD:0017232,Orphanet,254920,Exact +GARD:0017232,OMIM,610498,Exact +GARD:0017232,UMLS,C1864843,Exact +GARD:0017232,ICD-10,E88.8,NTBT +GARD:0017232,SNOMED-CT,764943000,NA +GARD:0017233,SNOMED-CT,766876004,NA +GARD:0017233,Orphanet,254925,Exact +GARD:0017233,UMLS,C1857682,Exact +GARD:0017233,OMIM,610678,Exact +GARD:0017233,ICD-10,E88.8,NTBT +GARD:0017234,Orphanet,254930,Exact +GARD:0017234,ICD-10,E88.8,NTBT +GARD:0017234,OMIM,613559,Exact +GARD:0017234,SNOMED-CT,763204003,NA +GARD:0017235,Orphanet,255132,Exact +GARD:0017235,SNOMED-CT,720465002,NA +GARD:0017235,UMLS,C2673914,Exact +GARD:0017235,OMIM,616860,Exact +GARD:0017235,ICD-10,D64.0,NTBT +GARD:0017236,Orphanet,255138,Exact +GARD:0017236,ICD-10,E74.4,NTBT +GARD:0017236,OMIM,614111,Exact +GARD:0017236,UMLS,C3279841,Exact +GARD:0017237,Orphanet,255182,Exact +GARD:0017237,OMIM,245349,Exact +GARD:0017237,ICD-10,E74.4,NTBT +GARD:0017237,UMLS,C1855553,Exact +GARD:0017238,Orphanet,255241,Exact +GARD:0017238,OMIM,618235,BTNT +GARD:0017238,OMIM,618229,BTNT +GARD:0017238,OMIM,618248,BTNT +GARD:0017238,OMIM,618243,BTNT +GARD:0017238,OMIM,618222,BTNT +GARD:0017238,OMIM,618249,BTNT +GARD:0017238,OMIM,618230,BTNT +GARD:0017238,OMIM,618233,BTNT +GARD:0017238,OMIM,618226,BTNT +GARD:0017238,OMIM,618225,BTNT +GARD:0017238,OMIM,618239,BTNT +GARD:0017238,ICD-10,G31.8,NTBT +GARD:0017238,OMIM,616277,BTNT +GARD:0017238,OMIM,252010,BTNT +GARD:0017238,OMIM,618241,BTNT +GARD:0017238,OMIM,618228,BTNT +GARD:0017238,OMIM,618224,BTNT +GARD:0017238,OMIM,618257,BTNT +GARD:0017238,OMIM,618240,BTNT +GARD:0017238,OMIM,618244,BTNT +GARD:0017238,OMIM,256000,NTBT +GARD:0017239,SNOMED-CT,783157004,NA +GARD:0017239,Orphanet,255249,Exact +GARD:0017239,OMIM,607426,BTNT +GARD:0017239,OMIM,614652,BTNT +GARD:0017239,ICD-10,G31.8,NTBT +GARD:0017240,Orphanet,260305,Exact +GARD:0017240,OMIM,182170,BTNT +GARD:0017240,ICD-10,D64.0,NTBT +GARD:0017240,OMIM,205950,BTNT +GARD:0017240,SNOMED-CT,717050005,NA +GARD:0017241,Orphanet,261120,Exact +GARD:0017241,OMIM,613457,Exact +GARD:0017241,ICD-10,Q93.5,NTBT +GARD:0017241,SNOMED-CT,719047001,NA +GARD:0017242,Orphanet,261190,Exact +GARD:0017242,ICD-10,Q93.5,NTBT +GARD:0017242,OMIM,616898,Exact +GARD:0017242,SNOMED-CT,719575008,NA +GARD:0017243,Orphanet,261211,Exact +GARD:0017243,ICD-10,Q93.5,NTBT +GARD:0017243,OMIM,613604,Exact +GARD:0017243,SNOMED-CT,719576009,NA +GARD:0017244,Orphanet,261222,Exact +GARD:0017244,OMIM,613444,Exact +GARD:0017244,ICD-10,Q93.5,NTBT +GARD:0017244,SNOMED-CT,733521003,NA +GARD:0017245,Orphanet,261330,Exact +GARD:0017245,UMLS,C2678480,Exact +GARD:0017245,ICD-10,Q93.5,NTBT +GARD:0017245,OMIM,611867,Exact +GARD:0017245,SNOMED-CT,734029004,NA +GARD:0017246,Orphanet,261476,Exact +GARD:0017246,SNOMED-CT,297257004,NA +GARD:0017246,ICD-10,Q99.8,NTBT +GARD:0017246,OMIM,300679,Exact +GARD:0017247,SNOMED-CT,718881004,NA +GARD:0017247,Orphanet,261483,Exact +GARD:0017247,ICD-10,Q99.8,NTBT +GARD:0017247,OMIM,300869,Exact +GARD:0017248,Orphanet,261537,Exact +GARD:0017248,ICD-10,Q43.1,NTBT +GARD:0017248,OMIM,235730,NTBT +GARD:0017249,Orphanet,261552,Exact +GARD:0017249,OMIM,235730,NTBT +GARD:0017249,ICD-10,Q43.1,NTBT +GARD:0017250,Orphanet,261600,Exact +GARD:0017250,ICD-10,Q44.7,NTBT +GARD:0017250,OMIM,118450,NTBT +GARD:0017251,Orphanet,261619,Exact +GARD:0017251,OMIM,118450,NTBT +GARD:0017251,ICD-10,Q44.7,NTBT +GARD:0017252,Orphanet,261629,Exact +GARD:0017252,ICD-10,Q44.7,NTBT +GARD:0017252,OMIM,610205,Exact +GARD:0017253,Orphanet,261652,Exact +GARD:0017253,OMIM,610253,NTBT +GARD:0017253,ICD-10,Q87.8,NTBT +GARD:0017253,OMIM,617768,BTNT +GARD:0017254,Orphanet,263297,Exact +GARD:0017254,ICD-10,E74.0,NTBT +GARD:0017254,OMIM,613507,Exact +GARD:0017254,SNOMED-CT,717821004,NA +GARD:0017255,Orphanet,263347,Exact +GARD:0017255,ICD-10,H35.5,NTBT +GARD:0017255,UMLS,C2674009,Exact +GARD:0017255,OMIM,619082,BTNT +GARD:0017255,OMIM,193220,NTBT +GARD:0017255,SNOMED-CT,771342004,NA +GARD:0017256,Orphanet,263458,Exact +GARD:0017256,OMIM,609968,Exact +GARD:0017256,ICD-10,E16.1,NTBT +GARD:0017256,SNOMED-CT,721235003,NA +GARD:0017257,Orphanet,263524,Exact +GARD:0017257,SNOMED-CT,763310000,NA +GARD:0017257,OMIM,614212,BTNT +GARD:0017257,ICD-10,G31.8,NTBT +GARD:0017258,Orphanet,263548,Exact +GARD:0017258,OMIM,616265,Exact +GARD:0017258,OMIM,618084,Exact +GARD:0017258,ICD-10,Q80.8,NTBT +GARD:0017259,Orphanet,263553,Exact +GARD:0017259,OMIM,270300,NTBT +GARD:0017259,ICD-10,Q80.8,NTBT +GARD:0017260,SNOMED-CT,765202001,NA +GARD:0017260,Orphanet,263662,Exact +GARD:0017260,OMIM,607174,BTNT +GARD:0017260,ICD-10,D32.9,NTBT +GARD:0017261,SNOMED-CT,235908005,NA +GARD:0017261,Orphanet,264580,Exact +GARD:0017261,ICD-10,E74.0,NTBT +GARD:0017261,UMLS,C2751643,Exact +GARD:0017261,OMIM,306000,BTNT +GARD:0017261,OMIM,613027,BTNT +GARD:0017262,SNOMED-CT,723508002,NA +GARD:0017262,Orphanet,268114,Exact +GARD:0017262,ICD-10,D72.8,NTBT +GARD:0017262,OMIM,614470,Exact +GARD:0017263,SNOMED-CT,54064006,NA +GARD:0017263,Orphanet,268145,Exact +GARD:0017263,OMIM,248600,NTBT +GARD:0017263,ICD-10,E71.0,NTBT +GARD:0017263,UMLS,C0268568,Exact +GARD:0017264,Orphanet,268162,Exact +GARD:0017264,OMIM,615135,BTNT +GARD:0017264,UMLS,C1621920,Exact +GARD:0017264,OMIM,248600,NTBT +GARD:0017264,SNOMED-CT,405287008,NA +GARD:0017264,ICD-10,E71.0,NTBT +GARD:0017265,Orphanet,268173,Exact +GARD:0017265,OMIM,248600,NTBT +GARD:0017265,UMLS,C0268569,Exact +GARD:0017265,ICD-10,E71.0,NTBT +GARD:0017265,SNOMED-CT,405288003,NA +GARD:0017266,Orphanet,268184,Exact +GARD:0017266,ICD-10,E71.0,NTBT +GARD:0017266,UMLS,C0751285,Exact +GARD:0017266,SNOMED-CT,31368008,NA +GARD:0017266,OMIM,248600,NTBT +GARD:0017267,SNOMED-CT,783251006,NA +GARD:0017267,Orphanet,268322,Exact +GARD:0017267,OMIM,313900,BTNT +GARD:0017267,OMIM,612004,BTNT +GARD:0017267,OMIM,188000,BTNT +GARD:0017267,OMIM,273900,BTNT +GARD:0017267,ICD-10,D69.4,NTBT +GARD:0017268,Orphanet,268357,Exact +GARD:0017268,OMIM,301410,BTNT +GARD:0017268,OMIM,182940,BTNT +GARD:0017268,OMIM,601634,BTNT +GARD:0017269,Orphanet,268940,Exact +GARD:0017269,OMIM,612691,BTNT +GARD:0017269,ICD-10,Q04.3,NTBT +GARD:0017269,OMIM,606854,BTNT +GARD:0017269,OMIM,616531,BTNT +GARD:0017269,OMIM,300388,BTNT +GARD:0017269,OMIM,615752,BTNT +GARD:0017269,SNOMED-CT,765757003,NA +GARD:0017270,Orphanet,269001,Exact +GARD:0017270,OMIM,607341,NTBT +GARD:0017270,ICD-10,Q04.8,NTBT +GARD:0017271,Orphanet,269008,Exact +GARD:0017271,ICD-10,Q04.8,NTBT +GARD:0017271,OMIM,607341,NTBT +GARD:0017272,Orphanet,269510,Exact +GARD:0017272,ICD-10,Q03.8,BTNT +GARD:0017272,OMIM,236600,Exact +GARD:0017272,ICD-10,Q03.1,BTNT +GARD:0017273,SNOMED-CT,230258005,NA +GARD:0017273,Orphanet,275872,Exact +GARD:0017273,OMIM,613954,BTNT +GARD:0017273,OMIM,105550,BTNT +GARD:0017273,UMLS,C3888102,Exact +GARD:0017273,OMIM,608030,BTNT +GARD:0017273,OMIM,612069,BTNT +GARD:0017273,ICD-10,G31.0,BTNT +GARD:0017273,OMIM,619133,BTNT +GARD:0017273,OMIM,619141,BTNT +GARD:0017273,OMIM,615911,BTNT +GARD:0017273,OMIM,616439,BTNT +GARD:0017273,OMIM,616437,BTNT +GARD:0017274,Orphanet,276148,Exact +GARD:0017274,ICD-10,D11.7,BTNT +GARD:0017274,OMIM,181030,BTNT +GARD:0017274,ICD-10,D11.0,BTNT +GARD:0017274,SNOMED-CT,783195009,NA +GARD:0017275,Orphanet,276152,Exact +GARD:0017275,OMIM,610755,Exact +GARD:0017275,UMLS,C1970712,Exact +GARD:0017275,ICD-10,D44.8,NTBT +GARD:0017275,SNOMED-CT,715907003,NA +GARD:0017276,Orphanet,276183,Exact +GARD:0017276,ICD-10,G11.8,NTBT +GARD:0017276,SNOMED-CT,719254001,NA +GARD:0017276,OMIM,613909,Exact +GARD:0017277,SNOMED-CT,236805000,NA +GARD:0017277,Orphanet,276234,Exact +GARD:0017277,OMIM,618433,BTNT +GARD:0017277,OMIM,618643,BTNT +GARD:0017277,OMIM,617965,BTNT +GARD:0017277,OMIM,614822,BTNT +GARD:0017277,OMIM,618745,BTNT +GARD:0017277,OMIM,618153,BTNT +GARD:0017277,OMIM,618751,BTNT +GARD:0017277,OMIM,617593,BTNT +GARD:0017277,OMIM,617576,BTNT +GARD:0017277,OMIM,618664,BTNT +GARD:0017277,OMIM,618152,BTNT +GARD:0017277,OMIM,618429,BTNT +GARD:0017277,ICD-10,N46,NTBT +GARD:0017277,OMIM,617592,BTNT +GARD:0017277,OMIM,612997,BTNT +GARD:0017277,OMIM,618670,BTNT +GARD:0017277,OMIM,606766,BTNT +GARD:0017278,Orphanet,276399,Exact +GARD:0017278,ICD-10,E04.2,NTBT +GARD:0017278,OMIM,138800,Exact +GARD:0017279,Orphanet,276405,Exact +GARD:0017279,ICD-10,K76.8,NTBT +GARD:0017279,OMIM,614156,Exact +GARD:0017279,SNOMED-CT,771441005,NA +GARD:0017280,SNOMED-CT,770401007,NA +GARD:0017280,Orphanet,276413,Exact +GARD:0017280,ICD-10,Q93.5,NTBT +GARD:0017280,OMIM,612242,Exact +GARD:0017281,Orphanet,276432,Exact +GARD:0017281,OMIM,300855,Exact +GARD:0017281,SNOMED-CT,771442003,NA +GARD:0017282,Orphanet,276435,Exact +GARD:0017282,OMIM,615048,Exact +GARD:0017282,ICD-10,G12.1,NTBT +GARD:0017282,SNOMED-CT,783618006,NA +GARD:0017283,SNOMED-CT,717046003,NA +GARD:0017283,Orphanet,276575,Exact +GARD:0017283,OMIM,256450,NTBT +GARD:0017283,ICD-10,E16.1,NTBT +GARD:0017284,SNOMED-CT,717045004,NA +GARD:0017284,Orphanet,276580,Exact +GARD:0017284,OMIM,601820,NTBT +GARD:0017284,ICD-10,E16.1,NTBT +GARD:0017285,Orphanet,276598,Exact +GARD:0017285,ICD-10,E16.1,NTBT +GARD:0017285,OMIM,256450,NTBT +GARD:0017285,SNOMED-CT,783740007,NA +GARD:0017286,SNOMED-CT,783741006,NA +GARD:0017286,Orphanet,276603,Exact +GARD:0017286,ICD-10,E16.1,NTBT +GARD:0017286,OMIM,601820,NTBT +GARD:0017287,Orphanet,279943,Exact +GARD:0017287,OMIM,162830,Exact +GARD:0017287,UMLS,C0543669,Exact +GARD:0017287,ICD-10,D72.8,NTBT +GARD:0017287,SNOMED-CT,129639005,NA +GARD:0017288,Orphanet,280142,Exact +GARD:0017288,ICD-10,D81.1,NTBT +GARD:0017288,OMIM,615758,Exact +GARD:0017288,SNOMED-CT,783617001,NA +GARD:0017289,Orphanet,280195,Exact +GARD:0017289,ICD-10,Q04.2,NTBT +GARD:0017289,OMIM,610829,NTBT +GARD:0017289,OMIM,609637,NTBT +GARD:0017289,OMIM,157170,NTBT +GARD:0017290,Orphanet,280200,Exact +GARD:0017290,OMIM,157170,NTBT +GARD:0017290,OMIM,609637,NTBT +GARD:0017290,ICD-10,Q04.2,NTBT +GARD:0017290,OMIM,147250,BTNT +GARD:0017290,OMIM,610829,NTBT +GARD:0017291,Orphanet,280210,Exact +GARD:0017291,ICD-10,E75.2,NTBT +GARD:0017291,OMIM,312080,NTBT +GARD:0017292,Orphanet,280234,Exact +GARD:0017292,OMIM,312080,NTBT +GARD:0017292,ICD-10,E75.2,NTBT +GARD:0017293,Orphanet,280282,Exact +GARD:0017293,UMLS,C1837355,Exact +GARD:0017293,OMIM,608804,Exact +GARD:0017293,ICD-10,E75.2,NTBT +GARD:0017294,Orphanet,280288,Exact +GARD:0017294,OMIM,612233,Exact +GARD:0017294,ICD-10,E75.2,NTBT +GARD:0017295,SNOMED-CT,783614008,NA +GARD:0017295,Orphanet,280406,Exact +GARD:0017295,ICD-10,N04.8,NTBT +GARD:0017295,OMIM,614650,Exact +GARD:0017296,Orphanet,280553,Exact +GARD:0017296,OMIM,613869,Exact +GARD:0017296,ICD-10,G71.2,NTBT +GARD:0017296,SNOMED-CT,782883004,NA +GARD:0017297,Orphanet,280615,Exact +GARD:0017297,OMIM,613977,NTBT +GARD:0017297,ICD-10,D58.2,NTBT +GARD:0017297,SNOMED-CT,782880001,NA +GARD:0017298,SNOMED-CT,763368004,NA +GARD:0017298,Orphanet,280628,Exact +GARD:0017298,ICD-10,L81.8,NTBT +GARD:0017298,OMIM,145250,NTBT +GARD:0017298,UMLS,C1840392,Exact +GARD:0017299,Orphanet,280640,Exact +GARD:0017299,ICD-10,Q04.3,NTBT +GARD:0017299,SNOMED-CT,782879004,NA +GARD:0017299,OMIM,614115,Exact +GARD:0017300,Orphanet,280651,Exact +GARD:0017300,OMIM,101800,BTNT +GARD:0017300,ICD-10,Q75.4,NTBT +GARD:0017300,OMIM,614613,BTNT +GARD:0017301,Orphanet,280679,Exact +GARD:0017301,OMIM,300845,Exact +GARD:0017301,SNOMED-CT,724097003,NA +GARD:0017302,SNOMED-CT,717041008,NA +GARD:0017302,Orphanet,281090,Exact +GARD:0017302,ICD-10,Q80.1,NTBT +GARD:0017302,OMIM,308100,NTBT +GARD:0017303,SNOMED-CT,718632004,NA +GARD:0017303,Orphanet,281122,Exact +GARD:0017303,OMIM,606545,BTNT +GARD:0017303,UMLS,C1855789,Exact +GARD:0017303,ICD-10,Q80.2,NTBT +GARD:0017303,OMIM,242100,BTNT +GARD:0017303,OMIM,242300,NTBT +GARD:0017304,SNOMED-CT,718631006,NA +GARD:0017304,Orphanet,281139,Exact +GARD:0017304,OMIM,607602,Exact +GARD:0017304,ICD-10,Q80.3,NTBT +GARD:0017305,Orphanet,281190,Exact +GARD:0017305,OMIM,609165,Exact +GARD:0017305,SNOMED-CT,703504006,NA +GARD:0017306,SNOMED-CT,763775000,NA +GARD:0017306,Orphanet,281201,Exact +GARD:0017306,ICD-10,Q82.8,NTBT +GARD:0017306,OMIM,601952,Exact +GARD:0017306,UMLS,C1866029,Exact +GARD:0017307,Orphanet,282166,Exact +GARD:0017307,ICD-10,A81.0,NTBT +GARD:0017307,OMIM,123400,Exact +GARD:0017307,SNOMED-CT,715807002,NA +GARD:0017308,Orphanet,284139,Exact +GARD:0017308,OMIM,245600,Exact +GARD:0017308,ICD-10,Q74.8,NTBT +GARD:0017308,SNOMED-CT,763778003,NA +GARD:0017309,Orphanet,284149,Exact +GARD:0017309,OMIM,614188,Exact +GARD:0017309,SNOMED-CT,773332008,NA +GARD:0017309,ICD-10,Q87.0,NTBT +GARD:0017310,SNOMED-CT,718615003,NA +GARD:0017310,Orphanet,284160,Exact +GARD:0017310,ICD-10,Q93.5,NTBT +GARD:0017310,OMIM,614230,Exact +GARD:0017311,Orphanet,284169,Exact +GARD:0017311,OMIM,616708,NTBT +GARD:0017311,SNOMED-CT,783061008,NA +GARD:0017311,ICD-10,Q93.5,NTBT +GARD:0017312,Orphanet,284271,Exact +GARD:0017312,ICD-10,G11.1,NTBT +GARD:0017312,OMIM,614229,Exact +GARD:0017312,SNOMED-CT,783060009,NA +GARD:0017313,SNOMED-CT,770898002,NA +GARD:0017313,Orphanet,284282,Exact +GARD:0017313,OMIM,614322,Exact +GARD:0017313,ICD-10,G11.1,NTBT +GARD:0017314,SNOMED-CT,785302009,NA +GARD:0017314,Orphanet,284289,Exact +GARD:0017314,OMIM,613728,Exact +GARD:0017314,ICD-10,G11.2,NTBT +GARD:0017315,Orphanet,284339,Exact +GARD:0017315,ICD-10,Q04.3,NTBT +GARD:0017315,OMIM,614969,Exact +GARD:0017315,SNOMED-CT,718605009,NA +GARD:0017316,Orphanet,284411,Exact +GARD:0017316,OMIM,307030,NTBT +GARD:0017316,ICD-10,E74.8,NTBT +GARD:0017317,Orphanet,284414,Exact +GARD:0017317,ICD-10,E74.8,NTBT +GARD:0017317,OMIM,307030,NTBT +GARD:0017318,Orphanet,284973,Exact +GARD:0017318,ICD-10,Q87.4,NTBT +GARD:0017318,UMLS,C2931058,Exact +GARD:0017318,OMIM,610168,NTBT +GARD:0017319,SNOMED-CT,67049004,NA +GARD:0017319,Orphanet,289157,Exact +GARD:0017319,UMLS,C0268689,Exact +GARD:0017319,ICD-11,5C63.20,Exact +GARD:0017319,OMIM,600081,BTNT +GARD:0017319,ICD-10,E55.0,NTBT +GARD:0017319,OMIM,264700,Exact +GARD:0017320,SNOMED-CT,90505000,NA +GARD:0017320,Orphanet,289176,Exact +GARD:0017320,OMIM,613312,BTNT +GARD:0017320,ICD-10,E83.3,NTBT +GARD:0017320,OMIM,241520,BTNT +GARD:0017321,Orphanet,289290,Exact +GARD:0017321,ICD-10,E72.1,NTBT +GARD:0017321,OMIM,614300,Exact +GARD:0017321,SNOMED-CT,763721006,NA +GARD:0017322,SNOMED-CT,782828005,NA +GARD:0017322,Orphanet,289307,Exact +GARD:0017322,UMLS,C3279840,Exact +GARD:0017322,ICD-10,E71.1,NTBT +GARD:0017322,OMIM,614105,Exact +GARD:0017323,Orphanet,289365,Exact +GARD:0017323,OMIM,614319,BTNT +GARD:0017323,ICD-10,N13.7,NTBT +GARD:0017323,OMIM,614318,BTNT +GARD:0017323,OMIM,615963,BTNT +GARD:0017323,OMIM,193000,NTBT +GARD:0017323,OMIM,613674,BTNT +GARD:0017323,OMIM,610878,BTNT +GARD:0017323,OMIM,614317,BTNT +GARD:0017323,OMIM,615390,BTNT +GARD:0017323,SNOMED-CT,763716008,NA +GARD:0017324,Orphanet,289377,Exact +GARD:0017324,ICD-10,G71.8,NTBT +GARD:0017324,UMLS,C2673677,Exact +GARD:0017324,OMIM,611705,Exact +GARD:0017324,SNOMED-CT,702343002,NA +GARD:0017325,Orphanet,289380,Exact +GARD:0017325,OMIM,255600,Exact +GARD:0017325,UMLS,C1611706,Exact +GARD:0017325,ICD-10,G71.8,NTBT +GARD:0017325,MedDRA,10064584,Exact +GARD:0017325,SNOMED-CT,763895001,NA +GARD:0017326,Orphanet,289483,Exact +GARD:0017326,OMIM,300858,Exact +GARD:0017326,SNOMED-CT,763741001,NA +GARD:0017327,Orphanet,289499,Exact +GARD:0017327,OMIM,269400,Exact +GARD:0017328,Orphanet,289553,Exact +GARD:0017328,ICD-10,Q87.8,NTBT +GARD:0017328,OMIM,615102,Exact +GARD:0017328,SNOMED-CT,763279007,NA +GARD:0017329,Orphanet,289586,Exact +GARD:0017329,UMLS,C1838440,Exact +GARD:0017329,ICD-10,Q80.8,NTBT +GARD:0017329,OMIM,607936,BTNT +GARD:0017329,OMIM,617115,BTNT +GARD:0017329,SNOMED-CT,763768001,NA +GARD:0017330,Orphanet,289846,Exact +GARD:0017330,ICD-10,D55.1,NTBT +GARD:0017330,OMIM,266130,Exact +GARD:0017331,Orphanet,289849,Exact +GARD:0017331,UMLS,C1856399,Exact +GARD:0017331,OMIM,231900,Exact +GARD:0017331,ICD-10,D55.1,NTBT +GARD:0017332,Orphanet,289857,Exact +GARD:0017332,UMLS,C0751748,Exact +GARD:0017332,OMIM,605899,NTBT +GARD:0017332,ICD-10,E72.5,NTBT +GARD:0017333,Orphanet,289860,Exact +GARD:0017333,ICD-10,E72.5,NTBT +GARD:0017333,OMIM,605899,NTBT +GARD:0017334,Orphanet,289863,Exact +GARD:0017334,OMIM,617301,NTBT +GARD:0017334,ICD-10,E72.5,NTBT +GARD:0017334,OMIM,605899,NTBT +GARD:0017335,Orphanet,289916,Exact +GARD:0017335,ICD-10,E71.1,NTBT +GARD:0017335,UMLS,C1855114,Exact +GARD:0017335,OMIM,251000,NTBT +GARD:0017335,SNOMED-CT,237945003,NA +GARD:0017336,Orphanet,293144,Exact +GARD:0017336,OMIM,119800,NTBT +GARD:0017336,ICD-10,Q66.8,NTBT +GARD:0017337,Orphanet,293150,Exact +GARD:0017337,OMIM,119800,NTBT +GARD:0017337,ICD-10,Q66.8,NTBT +GARD:0017338,Orphanet,293381,Exact +GARD:0017338,UMLS,C1852551,Exact +GARD:0017338,ICD-10,H18.5,NTBT +GARD:0017338,OMIM,122400,Exact +GARD:0017338,SNOMED-CT,715908008,NA +GARD:0017339,Orphanet,293621,Exact +GARD:0017339,SNOMED-CT,718579008,NA +GARD:0017339,ICD-10,H18.5,NTBT +GARD:0017339,OMIM,300779,Exact +GARD:0017339,UMLS,C2749049,Exact +GARD:0017340,Orphanet,293633,Exact +GARD:0017340,ICD-10,Q87.8,NTBT +GARD:0017340,OMIM,614438,Exact +GARD:0017340,SNOMED-CT,124177001,NA +GARD:0017341,Orphanet,293707,Exact +GARD:0017341,ICD-10,Q87.8,NTBT +GARD:0017341,OMIM,300895,Exact +GARD:0017342,Orphanet,293725,Exact +GARD:0017342,OMIM,604314,Exact +GARD:0017342,ICD-10,Q87.8,NTBT +GARD:0017342,UMLS,C1858538,Exact +GARD:0017342,SNOMED-CT,778009001,NA +GARD:0017343,Orphanet,293822,Exact +GARD:0017343,ICD-10,C43.9,NTBT +GARD:0017343,OMIM,614456,Exact +GARD:0017343,SNOMED-CT,770896003,NA +GARD:0017344,Orphanet,293825,Exact +GARD:0017344,ICD-10,D64.4,NTBT +GARD:0017344,OMIM,613673,Exact +GARD:0017344,SNOMED-CT,719453009,NA +GARD:0017345,Orphanet,293888,Exact +GARD:0017345,OMIM,610193,NTBT +GARD:0017345,OMIM,107970,NTBT +GARD:0017345,ICD-10,I42.8,NTBT +GARD:0017346,Orphanet,293899,Exact +GARD:0017346,OMIM,107970,NTBT +GARD:0017346,OMIM,610193,NTBT +GARD:0017346,ICD-10,I42.8,NTBT +GARD:0017347,Orphanet,293910,Exact +GARD:0017347,OMIM,615616,NTBT +GARD:0017347,OMIM,618920,NTBT +GARD:0017347,OMIM,610193,NTBT +GARD:0017347,OMIM,107970,NTBT +GARD:0017347,OMIM,600996,Exact +GARD:0017347,ICD-10,I42.8,NTBT +GARD:0017348,Orphanet,293925,Exact +GARD:0017348,OMIM,614416,Exact +GARD:0017348,ICD-10,Q87.5,NTBT +GARD:0017348,SNOMED-CT,773672007,NA +GARD:0017349,SNOMED-CT,722439009,NA +GARD:0017349,Orphanet,293936,Exact +GARD:0017349,OMIM,614303,Exact +GARD:0017350,Orphanet,293939,Exact +GARD:0017350,SNOMED-CT,773670004,NA +GARD:0017350,OMIM,300815,NTBT +GARD:0017350,ICD-10,Q99.8,NTBT +GARD:0017351,Orphanet,293958,Exact +GARD:0017351,OMIM,614187,Exact +GARD:0017351,SNOMED-CT,773667003,NA +GARD:0017352,Orphanet,293964,Exact +GARD:0017352,ICD-10,Q87.3,NTBT +GARD:0017352,OMIM,240900,Exact +GARD:0017352,SNOMED-CT,773666007,NA +GARD:0017353,Orphanet,293978,Exact +GARD:0017353,ICD-10,E23.0,NTBT +GARD:0017353,OMIM,615577,NTBT +GARD:0017353,SNOMED-CT,773664005,NA +GARD:0017354,Orphanet,294016,Exact +GARD:0017354,OMIM,614261,Exact +GARD:0017354,ICD-10,Q87.8,NTBT +GARD:0017354,SNOMED-CT,703369003,NA +GARD:0017355,SNOMED-CT,773662009,NA +GARD:0017355,Orphanet,294023,Exact +GARD:0017355,OMIM,614328,BTNT +GARD:0017355,OMIM,616069,BTNT +GARD:0017356,Orphanet,294415,Exact +GARD:0017356,OMIM,615415,BTNT +GARD:0017356,OMIM,208540,BTNT +GARD:0017356,UMLS,C2673883,Exact +GARD:0017356,SNOMED-CT,763891005,NA +GARD:0017357,Orphanet,295187,Exact +GARD:0017357,UMLS,C1853294,Exact +GARD:0017357,OMIM,609815,Exact +GARD:0017357,ICD-10,Q70.3,NTBT +GARD:0017358,Orphanet,295195,Exact +GARD:0017358,UMLS,C1861367,Exact +GARD:0017358,ICD-10,Q70.2,ND (not yet decided/unable to decide) +GARD:0017358,OMIM,186000,Exact +GARD:0017358,ICD-10,Q70.0,ND (not yet decided/unable to decide) +GARD:0017359,Orphanet,295197,Exact +GARD:0017359,ICD-10,Q70.2,ND (not yet decided/unable to decide) +GARD:0017359,UMLS,C1842422,Exact +GARD:0017359,ICD-10,Q70.0,ND (not yet decided/unable to decide) +GARD:0017359,OMIM,608180,Exact +GARD:0017360,Orphanet,295199,Exact +GARD:0017360,UMLS,C1853255,Exact +GARD:0017360,OMIM,610234,Exact +GARD:0017360,ICD-10,Q70.0,ND (not yet decided/unable to decide) +GARD:0017360,ICD-10,Q70.2,ND (not yet decided/unable to decide) +GARD:0017361,SNOMED-CT,720859009,NA +GARD:0017361,Orphanet,300179,Exact +GARD:0017361,OMIM,614557,Exact +GARD:0017361,ICD-10,Q79.6,NTBT +GARD:0017362,SNOMED-CT,763318007,NA +GARD:0017362,Orphanet,300284,Exact +GARD:0017362,UMLS,C2676285,Exact +GARD:0017362,OMIM,612394,Exact +GARD:0017362,ICD-10,M35.8,NTBT +GARD:0017363,SNOMED-CT,773649005,NA +GARD:0017363,Orphanet,300293,Exact +GARD:0017363,OMIM,614480,Exact +GARD:0017363,ICD-10,K76.0,NTBT +GARD:0017364,Orphanet,300298,Exact +GARD:0017364,ICD-10,D64.0,NTBT +GARD:0017364,OMIM,615234,Exact +GARD:0017364,SNOMED-CT,725463007,NA +GARD:0017365,Orphanet,300313,Exact +GARD:0017365,OMIM,614482,Exact +GARD:0017365,ICD-10,E88.8,NTBT +GARD:0017365,SNOMED-CT,773648002,NA +GARD:0017366,SNOMED-CT,763864008,NA +GARD:0017366,Orphanet,300324,Exact +GARD:0017366,ICD-10,D72.8,NTBT +GARD:0017366,OMIM,606445,Exact +GARD:0017366,UMLS,C1847973,Exact +GARD:0017367,SNOMED-CT,773647007,NA +GARD:0017367,Orphanet,300333,Exact +GARD:0017367,ICD-10,N08.2,NTBT +GARD:0017367,OMIM,609057,Exact +GARD:0017367,UMLS,C1836823,Exact +GARD:0017368,Orphanet,300345,Exact +GARD:0017368,OMIM,614420,Exact +GARD:0017368,ICD-10,M32.8,NTBT +GARD:0017368,SNOMED-CT,773333003,NA +GARD:0017369,Orphanet,300359,Exact +GARD:0017369,SNOMED-CT,773646003,NA +GARD:0017369,ICD-10,L50.2,NTBT +GARD:0017369,OMIM,614468,Exact +GARD:0017370,Orphanet,300373,Exact +GARD:0017370,OMIM,300942,BTNT +GARD:0017370,ICD-10,E22.0,NTBT +GARD:0017370,SNOMED-CT,773645004,NA +GARD:0017371,SNOMED-CT,773644000,NA +GARD:0017371,Orphanet,300382,Exact +GARD:0017371,OMIM,616914,Exact +GARD:0017371,ICD-10,E88.1,NTBT +GARD:0017372,Orphanet,300525,Exact +GARD:0017372,ICD-10,I15.1,NTBT +GARD:0017372,OMIM,614495,Exact +GARD:0017373,Orphanet,300530,Exact +GARD:0017373,ICD-10,I15.1,NTBT +GARD:0017373,OMIM,614496,Exact +GARD:0017374,Orphanet,300547,Exact +GARD:0017374,ICD-10,E83.5,NTBT +GARD:0017374,OMIM,616963,BTNT +GARD:0017374,OMIM,143880,Exact +GARD:0017374,SNOMED-CT,771445001,NA +GARD:0017375,Orphanet,300573,Exact +GARD:0017375,OMIM,610031,NTBT +GARD:0017375,ICD-10,Q04.3,NTBT +GARD:0017376,Orphanet,300576,Exact +GARD:0017376,OMIM,608615,Exact +GARD:0017376,ICD-10,C19,NTBT +GARD:0017376,UMLS,C1837750,Exact +GARD:0017376,SNOMED-CT,773345007,NA +GARD:0017377,Orphanet,306504,Exact +GARD:0017377,SNOMED-CT,733453005,NA +GARD:0017377,OMIM,614748,Exact +GARD:0017378,Orphanet,306511,Exact +GARD:0017378,ICD-10,G11.4,NTBT +GARD:0017378,OMIM,613647,Exact +GARD:0017378,SNOMED-CT,763367009,NA +GARD:0017379,Orphanet,306530,Exact +GARD:0017379,OMIM,614744,BTNT +GARD:0017379,ICD-10,Q87.0,NTBT +GARD:0017379,OMIM,604185,BTNT +GARD:0017379,SNOMED-CT,722389002,NA +GARD:0017380,Orphanet,306547,Exact +GARD:0017380,ICD-10,Q07.8,NTBT +GARD:0017380,OMIM,613730,Exact +GARD:0017380,SNOMED-CT,773627004,NA +GARD:0017381,Orphanet,306558,Exact +GARD:0017381,OMIM,619278,BTNT +GARD:0017381,OMIM,614231,BTNT +GARD:0017381,ICD-10,Q02,NTBT +GARD:0017381,SNOMED-CT,782825008,NA +GARD:0017382,Orphanet,306577,Exact +GARD:0017382,SNOMED-CT,782824007,NA +GARD:0017382,ICD-10,G99.1,NTBT +GARD:0017382,OMIM,133020,NTBT +GARD:0017382,OMIM,615551,BTNT +GARD:0017383,SNOMED-CT,716664003,NA +GARD:0017383,Orphanet,306734,Exact +GARD:0017383,ICD-10,G24.1,NTBT +GARD:0017383,OMIM,614588,Exact +GARD:0017384,SNOMED-CT,763658004,NA +GARD:0017384,Orphanet,307936,Exact +GARD:0017384,OMIM,607658,Exact +GARD:0017384,ICD-10,Q82.8,NTBT +GARD:0017384,UMLS,C1843285,Exact +GARD:0017385,Orphanet,308380,Exact +GARD:0017385,ICD-10,E72.1,NTBT +GARD:0017385,OMIM,277410,NTBT +GARD:0017385,UMLS,C1848552,Exact +GARD:0017386,Orphanet,308386,Exact +GARD:0017386,ICD-10,E72.1,NTBT +GARD:0017386,OMIM,252150,Exact +GARD:0017386,UMLS,C1854988,Exact +GARD:0017387,Orphanet,308393,Exact +GARD:0017387,OMIM,252160,Exact +GARD:0017387,ICD-10,E72.1,NTBT +GARD:0017387,UMLS,C1854989,Exact +GARD:0017388,Orphanet,308400,Exact +GARD:0017388,OMIM,615501,Exact +GARD:0017388,UMLS,C1854990,Exact +GARD:0017388,ICD-10,E72.1,NTBT +GARD:0017389,SNOMED-CT,771448004,NA +GARD:0017389,Orphanet,308410,Exact +GARD:0017389,ICD-10,E71.1,NTBT +GARD:0017389,OMIM,614923,Exact +GARD:0017390,Orphanet,308425,Exact +GARD:0017390,ICD-10,E71.1,NTBT +GARD:0017390,SNOMED-CT,765137006,NA +GARD:0017390,UMLS,C1855100,Exact +GARD:0017390,OMIM,251120,Exact +GARD:0017391,Orphanet,308442,Exact +GARD:0017391,OMIM,277410,NTBT +GARD:0017391,ICD-10,E71.1,NTBT +GARD:0017391,UMLS,C1848552,Exact +GARD:0017392,SNOMED-CT,297238008,NA +GARD:0017392,Orphanet,308473,Exact +GARD:0017392,OMIM,230350,NTBT +GARD:0017392,ICD-10,E74.2,NTBT +GARD:0017393,SNOMED-CT,297237003,NA +GARD:0017393,Orphanet,308487,Exact +GARD:0017393,ICD-10,E74.2,NTBT +GARD:0017393,OMIM,230350,NTBT +GARD:0017394,Orphanet,308621,Exact +GARD:0017394,OMIM,232500,NTBT +GARD:0017394,ICD-10,E74.0,NTBT +GARD:0017395,Orphanet,308638,Exact +GARD:0017395,ICD-10,E74.0,NTBT +GARD:0017395,OMIM,232500,NTBT +GARD:0017396,Orphanet,308655,Exact +GARD:0017396,UMLS,C1856303,Exact +GARD:0017396,OMIM,232500,NTBT +GARD:0017396,ICD-10,E74.0,NTBT +GARD:0017397,Orphanet,308670,Exact +GARD:0017397,ICD-10,E74.0,NTBT +GARD:0017397,OMIM,232500,NTBT +GARD:0017397,UMLS,C1856304,Exact +GARD:0017398,Orphanet,308684,Exact +GARD:0017398,UMLS,C0017922,Exact +GARD:0017398,OMIM,232500,NTBT +GARD:0017398,ICD-10,E74.0,NTBT +GARD:0017398,MedDRA,10053250,Exact +GARD:0017399,Orphanet,308698,Exact +GARD:0017399,OMIM,232500,NTBT +GARD:0017399,UMLS,C1856305,Exact +GARD:0017399,ICD-10,E74.0,NTBT +GARD:0017400,Orphanet,308712,Exact +GARD:0017400,ICD-10,E74.0,NTBT +GARD:0017400,OMIM,232500,NTBT +GARD:0017401,Orphanet,309031,Exact +GARD:0017401,ICD-10,K90.3,NTBT +GARD:0017401,OMIM,614338,Exact +GARD:0017401,SNOMED-CT,78960005,NA +GARD:0017401,UMLS,C0268240,Exact +GARD:0017402,Orphanet,309108,Exact +GARD:0017402,UMLS,C0268241,Exact +GARD:0017402,ICD-10,K90.3,NTBT +GARD:0017402,OMIM,614338,NTBT +GARD:0017402,SNOMED-CT,69478001,NA +GARD:0017403,SNOMED-CT,763212006,NA +GARD:0017403,Orphanet,309111,Exact +GARD:0017403,ICD-10,K90.3,NTBT +GARD:0017403,OMIM,614338,NTBT +GARD:0017404,Orphanet,309162,Exact +GARD:0017404,UMLS,C1849321,Exact +GARD:0017404,OMIM,268800,NTBT +GARD:0017404,UMLS,C0751491,Exact +GARD:0017404,ICD-10,E75.0,NTBT +GARD:0017405,Orphanet,309169,Exact +GARD:0017405,UMLS,C0751489,Exact +GARD:0017405,ICD-10,E75.0,NTBT +GARD:0017405,UMLS,C1849320,Exact +GARD:0017405,OMIM,268800,NTBT +GARD:0017406,Orphanet,309246,Exact +GARD:0017406,ICD-10,E75.0,NTBT +GARD:0017406,OMIM,272750,Exact +GARD:0017406,UMLS,C0268275,Exact +GARD:0017407,Orphanet,309282,Exact +GARD:0017407,OMIM,248500,NTBT +GARD:0017407,ICD-10,E77.1,NTBT +GARD:0017407,SNOMED-CT,62311004,NA +GARD:0017408,Orphanet,309288,Exact +GARD:0017408,ICD-10,E77.1,NTBT +GARD:0017408,OMIM,248500,NTBT +GARD:0017409,SNOMED-CT,771469002,NA +GARD:0017409,Orphanet,313772,Exact +GARD:0017409,ICD-10,G11.4,NTBT +GARD:0017409,OMIM,614487,Exact +GARD:0017410,Orphanet,313795,Exact +GARD:0017410,UMLS,C0796063,Exact +GARD:0017410,OMIM,251255,Exact +GARD:0017410,SNOMED-CT,771470001,NA +GARD:0017411,SNOMED-CT,771471002,NA +GARD:0017411,Orphanet,313800,Exact +GARD:0017411,OMIM,614979,Exact +GARD:0017412,Orphanet,313838,Exact +GARD:0017412,OMIM,617341,BTNT +GARD:0017412,UMLS,C2677299,Exact +GARD:0017412,ICD-10,H35.0,NTBT +GARD:0017412,OMIM,612199,Exact +GARD:0017412,SNOMED-CT,711482008,NA +GARD:0017413,Orphanet,313846,Exact +GARD:0017413,OMIM,614564,Exact +GARD:0017413,SNOMED-CT,782823001,NA +GARD:0017414,Orphanet,313884,Exact +GARD:0017414,OMIM,616803,NTBT +GARD:0017414,ICD-10,Q93.5,NTBT +GARD:0017414,SNOMED-CT,778007004,NA +GARD:0017415,Orphanet,313892,Exact +GARD:0017415,OMIM,616803,NTBT +GARD:0017415,SNOMED-CT,771472009,NA +GARD:0017416,SNOMED-CT,771474005,NA +GARD:0017416,Orphanet,314022,Exact +GARD:0017416,OMIM,619182,Exact +GARD:0017416,ICD-10,C16.9,NTBT +GARD:0017417,Orphanet,314373,Exact +GARD:0017417,OMIM,614616,Exact +GARD:0017417,ICD-10,P78.3,NTBT +GARD:0017417,SNOMED-CT,785727000,NA +GARD:0017418,SNOMED-CT,733447005,NA +GARD:0017418,Orphanet,314376,Exact +GARD:0017418,OMIM,614665,Exact +GARD:0017418,ICD-10,P76.0,NTBT +GARD:0017419,SNOMED-CT,773625007,NA +GARD:0017419,Orphanet,314394,Exact +GARD:0017419,OMIM,614813,Exact +GARD:0017419,ICD-10,Q87.1,NTBT +GARD:0017420,Orphanet,314399,Exact +GARD:0017420,SNOMED-CT,778006008,NA +GARD:0017420,ICD-10,D61.0,NTBT +GARD:0017420,OMIM,614675,Exact +GARD:0017421,Orphanet,314485,Exact +GARD:0017421,OMIM,619216,BTNT +GARD:0017421,ICD-10,G12.2,NTBT +GARD:0017421,OMIM,614881,BTNT +GARD:0017421,SNOMED-CT,771475006,NA +GARD:0017422,Orphanet,314555,Exact +GARD:0017422,ICD-10,Q87.5,NTBT +GARD:0017422,UMLS,C1970027,Exact +GARD:0017422,SNOMED-CT,773622005,NA +GARD:0017422,OMIM,611174,Exact +GARD:0017423,Orphanet,314585,Exact +GARD:0017423,ICD-10,Q87.3,NTBT +GARD:0017423,OMIM,614846,BTNT +GARD:0017423,SNOMED-CT,771477003,NA +GARD:0017424,Orphanet,314588,Exact +GARD:0017424,OMIM,614846,Exact +GARD:0017424,ICD-10,Q99.8,NTBT +GARD:0017425,Orphanet,314603,Exact +GARD:0017425,OMIM,611390,Exact +GARD:0017425,ICD-10,E88.8,NTBT +GARD:0017425,UMLS,C1969645,Exact +GARD:0017425,SNOMED-CT,784343003,NA +GARD:0017426,Orphanet,314629,Exact +GARD:0017426,ICD-10,E75.4,NTBT +GARD:0017426,OMIM,614706,Exact +GARD:0017427,Orphanet,314632,Exact +GARD:0017427,OMIM,606693,NTBT +GARD:0017427,ICD-10,E75.4,NTBT +GARD:0017427,SNOMED-CT,789657008,NA +GARD:0017428,SNOMED-CT,771478008,NA +GARD:0017428,Orphanet,314637,Exact +GARD:0017428,ICD-10,E88.8,NTBT +GARD:0017428,OMIM,614702,Exact +GARD:0017429,Orphanet,314647,Exact +GARD:0017429,OMIM,614756,Exact +GARD:0017429,ICD-10,G11.0,NTBT +GARD:0017429,SNOMED-CT,723441001,NA +GARD:0017430,Orphanet,314689,Exact +GARD:0017430,OMIM,614868,Exact +GARD:0017430,ICD-10,D81.8,NTBT +GARD:0017430,SNOMED-CT,771479000,NA +GARD:0017431,Orphanet,314701,Exact +GARD:0017431,ICD-10,E85.0,BTNT +GARD:0017431,ICD-10,E85.1,BTNT +GARD:0017431,ICD-10,E85.3,BTNT +GARD:0017431,OMIM,254500,NTBT +GARD:0017431,ICD-10,E85.2,BTNT +GARD:0017432,Orphanet,314718,Exact +GARD:0017432,ICD-10,Q28.8,NTBT +GARD:0017432,OMIM,614437,NTBT +GARD:0017432,SNOMED-CT,782773005,NA +GARD:0017433,Orphanet,314721,Exact +GARD:0017433,OMIM,125400,NTBT +GARD:0017433,ICD-10,K00.5,NTBT +GARD:0017433,SNOMED-CT,783059004,NA +GARD:0017434,Orphanet,314795,Exact +GARD:0017434,OMIM,300582,Exact +GARD:0017434,ICD-10,Q87.1,NTBT +GARD:0017434,SNOMED-CT,763868006,NA +GARD:0017435,Orphanet,314802,Exact +GARD:0017435,ICD-10,E34.3,NTBT +GARD:0017435,OMIM,604271,Exact +GARD:0017435,SNOMED-CT,783098009,NA +GARD:0017436,Orphanet,314811,Exact +GARD:0017436,ICD-10,E34.3,NTBT +GARD:0017436,OMIM,615925,Exact +GARD:0017436,SNOMED-CT,766817004,NA +GARD:0017437,Orphanet,314911,Exact +GARD:0017437,ICD-10,E75.2,NTBT +GARD:0017437,UMLS,C0751664,Exact +GARD:0017437,UMLS,C0751666,Exact +GARD:0017437,OMIM,271900,NTBT +GARD:0017438,Orphanet,314918,Exact +GARD:0017438,OMIM,271900,NTBT +GARD:0017438,ICD-10,E75.2,NTBT +GARD:0017438,UMLS,C0751667,Exact +GARD:0017439,SNOMED-CT,766818009,NA +GARD:0017439,Orphanet,314978,Exact +GARD:0017439,OMIM,300703,NTBT +GARD:0017439,ICD-10,G11.0,NTBT +GARD:0017440,Orphanet,314993,Exact +GARD:0017440,OMIM,608227,Exact +GARD:0017440,ICD-10,Q87.8,NTBT +GARD:0017440,SNOMED-CT,726704006,NA +GARD:0017441,Orphanet,317425,Exact +GARD:0017441,SNOMED-CT,716871006,NA +GARD:0017441,OMIM,615966,Exact +GARD:0017441,ICD-10,D81.1,NTBT +GARD:0017442,Orphanet,317473,Exact +GARD:0017442,OMIM,616873,Exact +GARD:0017442,ICD-10,D81.8,NTBT +GARD:0017442,SNOMED-CT,783142006,NA +GARD:0017443,Orphanet,319160,Exact +GARD:0017443,ICD-10,G71.2,NTBT +GARD:0017443,OMIM,614807,Exact +GARD:0017443,SNOMED-CT,764945007,NA +GARD:0017444,SNOMED-CT,763770005,NA +GARD:0017444,Orphanet,319189,Exact +GARD:0017444,OMIM,614937,Exact +GARD:0017444,ICD-10,G25.3,NTBT +GARD:0017445,Orphanet,319199,Exact +GARD:0017445,SNOMED-CT,723823004,NA +GARD:0017445,OMIM,614898,Exact +GARD:0017445,ICD-10,G11.4,NTBT +GARD:0017446,Orphanet,319308,Exact +GARD:0017446,OMIM,300854,BTNT +GARD:0017446,ICD-10,C64,NTBT +GARD:0017446,SNOMED-CT,764694005,NA +GARD:0017447,SNOMED-CT,764812008,NA +GARD:0017447,Orphanet,319332,Exact +GARD:0017447,OMIM,618484,Exact +GARD:0017447,ICD-10,Q74.3,NTBT +GARD:0017448,SNOMED-CT,766881008,NA +GARD:0017448,Orphanet,319340,Exact +GARD:0017448,UMLS,C1837245,Exact +GARD:0017448,ICD-10,Q68.8,NTBT +GARD:0017448,OMIM,608837,Exact +GARD:0017449,Orphanet,319462,Exact +GARD:0017449,ICD-10,D61.0,NTBT +GARD:0017449,OMIM,605724,Exact +GARD:0017449,SNOMED-CT,766707003,NA +GARD:0017450,Orphanet,319465,Exact +GARD:0017450,OMIM,601626,NTBT +GARD:0017450,ICD-10,C92.0,NTBT +GARD:0017450,SNOMED-CT,764940002,NA +GARD:0017451,Orphanet,319480,Exact +GARD:0017451,OMIM,601626,NTBT +GARD:0017451,ICD-10,C92.0,NTBT +GARD:0017451,SNOMED-CT,764855007,NA +GARD:0017452,SNOMED-CT,733600007,NA +GARD:0017452,Orphanet,319504,Exact +GARD:0017452,OMIM,614096,Exact +GARD:0017452,ICD-10,E88.8,NTBT +GARD:0017453,SNOMED-CT,763209008,NA +GARD:0017453,Orphanet,319509,Exact +GARD:0017453,OMIM,614582,Exact +GARD:0017453,ICD-10,E88.8,NTBT +GARD:0017454,Orphanet,319514,Exact +GARD:0017454,OMIM,614932,Exact +GARD:0017454,ICD-10,E88.8,NTBT +GARD:0017454,SNOMED-CT,763110007,NA +GARD:0017455,Orphanet,319519,Exact +GARD:0017455,ICD-10,E88.8,NTBT +GARD:0017455,SNOMED-CT,778065005,NA +GARD:0017455,OMIM,614946,Exact +GARD:0017456,Orphanet,319524,Exact +GARD:0017456,ICD-10,E88.8,NTBT +GARD:0017456,OMIM,614947,Exact +GARD:0017456,SNOMED-CT,763203009,NA +GARD:0017457,SNOMED-CT,721876004,NA +GARD:0017457,Orphanet,319547,Exact +GARD:0017457,ICD-10,D84.8,NTBT +GARD:0017457,OMIM,614889,NTBT +GARD:0017458,Orphanet,319563,Exact +GARD:0017458,ICD-10,D84.8,NTBT +GARD:0017458,SNOMED-CT,723384004,NA +GARD:0017458,OMIM,616126,Exact +GARD:0017459,Orphanet,319569,Exact +GARD:0017459,OMIM,209950,NTBT +GARD:0017459,SNOMED-CT,725431001,NA +GARD:0017459,ICD-10,D84.8,NTBT +GARD:0017460,Orphanet,319574,Exact +GARD:0017460,ICD-10,D84.8,NTBT +GARD:0017460,OMIM,614889,NTBT +GARD:0017460,SNOMED-CT,725432008,NA +GARD:0017461,Orphanet,319581,Exact +GARD:0017461,ICD-10,D84.8,NTBT +GARD:0017461,OMIM,615978,Exact +GARD:0017461,SNOMED-CT,725150008,NA +GARD:0017462,Orphanet,319595,Exact +GARD:0017462,ICD-10,D84.8,NTBT +GARD:0017462,OMIM,614892,Exact +GARD:0017462,SNOMED-CT,723386002,NA +GARD:0017463,Orphanet,319600,Exact +GARD:0017463,OMIM,614893,Exact +GARD:0017463,ICD-10,D84.8,NTBT +GARD:0017463,SNOMED-CT,723385003,NA +GARD:0017464,Orphanet,319605,Exact +GARD:0017464,OMIM,300645,BTNT +GARD:0017464,ICD-10,D84.8,NTBT +GARD:0017464,OMIM,300636,BTNT +GARD:0017464,SNOMED-CT,719814009,NA +GARD:0017465,Orphanet,319623,Exact +GARD:0017465,OMIM,300645,Exact +GARD:0017465,ICD-10,D84.8,NTBT +GARD:0017466,SNOMED-CT,764849002,NA +GARD:0017466,Orphanet,319635,Exact +GARD:0017466,OMIM,617920,Exact +GARD:0017466,ICD-10,E85.4+,NTBT +GARD:0017466,ICD-10,L99.0*,NTBT +GARD:0017467,Orphanet,319640,Exact +GARD:0017467,OMIM,608051,Exact +GARD:0017467,ICD-10,H35.5,NTBT +GARD:0017467,UMLS,C0339512,Exact +GARD:0017467,SNOMED-CT,770594005,NA +GARD:0017468,SNOMED-CT,770564004,NA +GARD:0017468,Orphanet,319671,Exact +GARD:0017468,ICD-10,Q87.1,NTBT +GARD:0017468,OMIM,615071,Exact +GARD:0017469,Orphanet,319675,Exact +GARD:0017469,ICD-10,Q87.1,NTBT +GARD:0017469,OMIM,614851,Exact +GARD:0017469,SNOMED-CT,770565003,NA +GARD:0017470,SNOMED-CT,763280005,NA +GARD:0017470,Orphanet,319678,Exact +GARD:0017470,ICD-10,E88.8,NTBT +GARD:0017470,OMIM,614654,Exact +GARD:0017471,Orphanet,320355,Exact +GARD:0017471,ICD-10,G11.4,NTBT +GARD:0017471,OMIM,613364,Exact +GARD:0017471,SNOMED-CT,763069002,NA +GARD:0017472,Orphanet,320365,Exact +GARD:0017472,OMIM,613096,Exact +GARD:0017472,UMLS,C2936879,Exact +GARD:0017472,ICD-10,G11.4,NTBT +GARD:0017472,SNOMED-CT,723819007,NA +GARD:0017473,SNOMED-CT,764736001,NA +GARD:0017473,Orphanet,320370,Exact +GARD:0017473,OMIM,615043,Exact +GARD:0017473,ICD-10,G11.4,NTBT +GARD:0017474,SNOMED-CT,723825006,NA +GARD:0017474,Orphanet,320375,Exact +GARD:0017474,ICD-10,G11.4,NTBT +GARD:0017474,OMIM,615035,Exact +GARD:0017475,Orphanet,320380,Exact +GARD:0017475,ICD-10,G11.4,NTBT +GARD:0017475,OMIM,615033,Exact +GARD:0017475,SNOMED-CT,723824005,NA +GARD:0017476,Orphanet,320391,Exact +GARD:0017476,ICD-10,G11.4,NTBT +GARD:0017476,SNOMED-CT,723822009,NA +GARD:0017476,OMIM,614409,Exact +GARD:0017477,SNOMED-CT,765753004,NA +GARD:0017477,Orphanet,320396,Exact +GARD:0017477,OMIM,613162,Exact +GARD:0017477,ICD-10,G11.4,NTBT +GARD:0017478,SNOMED-CT,723821002,NA +GARD:0017478,Orphanet,320401,Exact +GARD:0017478,OMIM,613206,Exact +GARD:0017478,ICD-10,G11.4,NTBT +GARD:0017478,UMLS,C2750784,Exact +GARD:0017479,SNOMED-CT,725139005,NA +GARD:0017479,Orphanet,320406,Exact +GARD:0017479,UMLS,C1836010,Exact +GARD:0017479,OMIM,609541,Exact +GARD:0017479,ICD-10,G11.4,NTBT +GARD:0017480,SNOMED-CT,783764008,NA +GARD:0017480,Orphanet,320411,Exact +GARD:0017480,OMIM,615030,Exact +GARD:0017480,ICD-10,G11.4,NTBT +GARD:0017481,Orphanet,324262,Exact +GARD:0017481,OMIM,614831,Exact +GARD:0017481,ICD-10,G11.1,NTBT +GARD:0017482,Orphanet,324290,Exact +GARD:0017482,SNOMED-CT,733082001,NA +GARD:0017482,ICD-10,G40.3,NTBT +GARD:0017482,OMIM,616640,Exact +GARD:0017483,Orphanet,324294,Exact +GARD:0017483,OMIM,618307,Exact +GARD:0017483,ICD-10,D84.8,NTBT +GARD:0017483,SNOMED-CT,770785002,NA +GARD:0017484,SNOMED-CT,770784003,NA +GARD:0017484,Orphanet,324321,Exact +GARD:0017484,ICD-10,H91.8,NTBT +GARD:0017484,OMIM,614896,Exact +GARD:0017485,Orphanet,324410,Exact +GARD:0017485,OMIM,300886,Exact +GARD:0017485,SNOMED-CT,773587008,NA +GARD:0017486,Orphanet,324530,Exact +GARD:0017486,OMIM,614878,Exact +GARD:0017486,SNOMED-CT,778004006,NA +GARD:0017486,ICD-10,D89.8,NTBT +GARD:0017487,Orphanet,324535,Exact +GARD:0017487,ICD-10,E88.8,NTBT +GARD:0017487,OMIM,614922,Exact +GARD:0017487,SNOMED-CT,783558004,NA +GARD:0017488,Orphanet,324569,Exact +GARD:0017488,ICD-10,Q04.3,NTBT +GARD:0017488,OMIM,614961,Exact +GARD:0017488,SNOMED-CT,718611007,NA +GARD:0017489,Orphanet,324703,Exact +GARD:0017489,ICD-10,I68.0*,NTBT +GARD:0017489,ICD-10,E85.4+,NTBT +GARD:0017489,OMIM,605714,NTBT +GARD:0017490,Orphanet,324708,Exact +GARD:0017490,ICD-10,I68.0*,NTBT +GARD:0017490,OMIM,605714,NTBT +GARD:0017490,ICD-10,E85.4+,NTBT +GARD:0017491,Orphanet,324713,Exact +GARD:0017491,ICD-10,E85.4+,NTBT +GARD:0017491,ICD-10,I68.0*,NTBT +GARD:0017491,OMIM,605714,NTBT +GARD:0017492,Orphanet,324718,Exact +GARD:0017492,ICD-10,I68.0*,NTBT +GARD:0017492,OMIM,605714,NTBT +GARD:0017492,ICD-10,E85.4+,NTBT +GARD:0017493,Orphanet,324723,Exact +GARD:0017493,ICD-10,I68.0*,NTBT +GARD:0017493,ICD-10,E85.4+,NTBT +GARD:0017493,OMIM,605714,NTBT +GARD:0017494,Orphanet,329173,Exact +GARD:0017494,OMIM,615895,NTBT +GARD:0017494,ICD-10,D89.8,NTBT +GARD:0017495,SNOMED-CT,770788000,NA +GARD:0017495,Orphanet,329191,Exact +GARD:0017495,OMIM,615923,Exact +GARD:0017496,Orphanet,329195,Exact +GARD:0017496,OMIM,615516,Exact +GARD:0017496,ICD-10,F84.8,NTBT +GARD:0017496,SNOMED-CT,770790004,NA +GARD:0017497,Orphanet,329211,Exact +GARD:0017497,OMIM,193235,Exact +GARD:0017497,ICD-10,H35.2,NTBT +GARD:0017497,SNOMED-CT,770791000,NA +GARD:0017498,Orphanet,329228,Exact +GARD:0017498,OMIM,615095,Exact +GARD:0017498,ICD-10,Q87.1,NTBT +GARD:0017498,SNOMED-CT,724141003,NA +GARD:0017499,Orphanet,329235,Exact +GARD:0017499,ICD-10,E03.1,NTBT +GARD:0017499,OMIM,300888,Exact +GARD:0017499,SNOMED-CT,771510006,NA +GARD:0017500,Orphanet,329242,Exact +GARD:0017500,OMIM,615863,Exact +GARD:0017500,ICD-10,P78.3,NTBT +GARD:0017500,OMIM,618183,Exact +GARD:0017500,SNOMED-CT,773579007,NA +GARD:0017501,Orphanet,329314,Exact +GARD:0017501,ICD-10,G71.3,NTBT +GARD:0017501,OMIM,617070,Exact +GARD:0017501,SNOMED-CT,733599009,NA +GARD:0017502,SNOMED-CT,764732004,NA +GARD:0017502,Orphanet,329332,Exact +GARD:0017502,OMIM,614407,Exact +GARD:0017502,ICD-10,Q87.8,NTBT +GARD:0017503,SNOMED-CT,725464001,NA +GARD:0017503,Orphanet,329336,Exact +GARD:0017503,ICD-10,G71.3,NTBT +GARD:0017503,OMIM,616479,BTNT +GARD:0017504,SNOMED-CT,446923008,NA +GARD:0017504,Orphanet,329481,Exact +GARD:0017504,UMLS,C2673196,Exact +GARD:0017504,OMIM,611771,Exact +GARD:0017504,ICD-10,N07.8,NTBT +GARD:0017505,Orphanet,329802,Exact +GARD:0017505,ICD-10,Q92.3,NTBT +GARD:0017505,OMIM,613174,Exact +GARD:0017505,UMLS,C2750805,Exact +GARD:0017505,SNOMED-CT,770793002,NA +GARD:0017506,Orphanet,329903,Exact +GARD:0017506,ICD-10,N03.5,NTBT +GARD:0017506,OMIM,615008,Exact +GARD:0017506,UMLS,C0268742,Exact +GARD:0017506,UMLS,C1720821,Exact +GARD:0017507,Orphanet,329918,Exact +GARD:0017507,OMIM,609814,BTNT +GARD:0017507,ICD-10,N03.5,NTBT +GARD:0017507,OMIM,614809,BTNT +GARD:0017508,Orphanet,329971,Exact +GARD:0017508,ICD-10,D12.6,NTBT +GARD:0017508,OMIM,175050,NTBT +GARD:0017508,OMIM,174900,Exact +GARD:0017509,Orphanet,330050,Exact +GARD:0017509,OMIM,614388,Exact +GARD:0017509,ICD-10,E88.8,NTBT +GARD:0017510,Orphanet,330061,Exact +GARD:0017510,UMLS,C0406217,Exact +GARD:0017510,ICD-10,L56.4,NTBT +GARD:0017510,OMIM,174770,Exact +GARD:0017510,SNOMED-CT,201015007,NA +GARD:0017511,Orphanet,331176,Exact +GARD:0017511,OMIM,612541,Exact +GARD:0017511,UMLS,C2675526,Exact +GARD:0017511,SNOMED-CT,783058007,NA +GARD:0017511,ICD-10,D70,NTBT +GARD:0017512,Orphanet,331187,Exact +GARD:0017512,UMLS,C3151085,Exact +GARD:0017512,ICD-10,D84.1,NTBT +GARD:0017512,OMIM,613791,Exact +GARD:0017512,SNOMED-CT,771078002,NA +GARD:0017513,Orphanet,331190,Exact +GARD:0017513,ICD-10,D84.1,NTBT +GARD:0017513,OMIM,613860,Exact +GARD:0017513,SNOMED-CT,766705006,NA +GARD:0017514,Orphanet,331226,Exact +GARD:0017514,OMIM,611521,Exact +GARD:0017514,ICD-10,D82.4,NTBT +GARD:0017514,UMLS,C1969086,Exact +GARD:0017515,Orphanet,352333,Exact +GARD:0017515,ICD-10,Q80.8,NTBT +GARD:0017515,OMIM,614457,Exact +GARD:0017516,Orphanet,352403,Exact +GARD:0017516,ICD-10,G11.1,NTBT +GARD:0017516,OMIM,615386,Exact +GARD:0017516,SNOMED-CT,763351003,NA +GARD:0017517,Orphanet,352447,Exact +GARD:0017517,OMIM,615084,Exact +GARD:0017517,ICD-10,G71.3,NTBT +GARD:0017517,SNOMED-CT,764733009,NA +GARD:0017518,Orphanet,352470,Exact +GARD:0017518,OMIM,615156,Exact +GARD:0017518,ICD-10,G71.3,NTBT +GARD:0017518,SNOMED-CT,783057002,NA +GARD:0017519,SNOMED-CT,783554002,NA +GARD:0017519,Orphanet,352479,Exact +GARD:0017519,OMIM,616052,Exact +GARD:0017519,ICD-10,G71.0,NTBT +GARD:0017520,Orphanet,352490,Exact +GARD:0017520,OMIM,615834,Exact +GARD:0017520,ICD-10,F84.1,NTBT +GARD:0017520,SNOMED-CT,771512003,NA +GARD:0017521,Orphanet,352582,Exact +GARD:0017521,OMIM,605021,Exact +GARD:0017521,ICD-10,G40.3,NTBT +GARD:0017521,SNOMED-CT,784342008,NA +GARD:0017522,Orphanet,352596,Exact +GARD:0017522,ICD-10,G40.3,NTBT +GARD:0017522,SNOMED-CT,763349002,NA +GARD:0017522,OMIM,615338,NTBT +GARD:0017523,SNOMED-CT,771514002,NA +GARD:0017523,Orphanet,352654,Exact +GARD:0017523,ICD-10,G31.8,NTBT +GARD:0017523,OMIM,615491,Exact +GARD:0017524,Orphanet,352657,Exact +GARD:0017524,ICD-10,Q82.8,NTBT +GARD:0017524,UMLS,C0265966,Exact +GARD:0017524,SNOMED-CT,400014002,NA +GARD:0017524,OMIM,127600,Exact +GARD:0017525,SNOMED-CT,773577009,NA +GARD:0017525,Orphanet,352662,Exact +GARD:0017525,OMIM,615225,Exact +GARD:0017525,ICD-10,Q82.8,NTBT +GARD:0017526,Orphanet,352682,Exact +GARD:0017526,OMIM,615191,Exact +GARD:0017526,ICD-10,Q04.3,NTBT +GARD:0017526,SNOMED-CT,785299009,NA +GARD:0017527,Orphanet,352709,Exact +GARD:0017527,OMIM,615362,Exact +GARD:0017527,ICD-10,E75.4,NTBT +GARD:0017528,SNOMED-CT,771515001,NA +GARD:0017528,Orphanet,352712,Exact +GARD:0017528,OMIM,615139,Exact +GARD:0017528,ICD-10,Q87.1,NTBT +GARD:0017529,Orphanet,352718,Exact +GARD:0017529,OMIM,615147,Exact +GARD:0017529,ICD-10,H35.5,NTBT +GARD:0017529,SNOMED-CT,773576000,NA +GARD:0017530,Orphanet,352737,Exact +GARD:0017530,OMIM,606952,NTBT +GARD:0017530,UMLS,C1847132,Exact +GARD:0017530,ICD-10,E70.3,NTBT +GARD:0017531,Orphanet,352745,Exact +GARD:0017531,OMIM,615179,Exact +GARD:0017531,ICD-10,E70.3,NTBT +GARD:0017531,SNOMED-CT,722059002,NA +GARD:0017532,Orphanet,353217,Exact +GARD:0017532,ICD-10,E88.8,NTBT +GARD:0017532,OMIM,612949,Exact +GARD:0017532,SNOMED-CT,726702005,NA +GARD:0017533,Orphanet,353220,Exact +GARD:0017533,SNOMED-CT,402463003,NA +GARD:0017533,ICD-10,L99.0*,NTBT +GARD:0017533,ICD-10,E85.4+,NTBT +GARD:0017533,OMIM,613955,BTNT +GARD:0017533,OMIM,105250,Exact +GARD:0017534,Orphanet,353277,Exact +GARD:0017534,OMIM,180849,Exact +GARD:0017534,ICD-10,Q87.2,NTBT +GARD:0017535,Orphanet,353284,Exact +GARD:0017535,OMIM,613684,Exact +GARD:0017535,ICD-10,Q87.2,NTBT +GARD:0017536,Orphanet,353308,Exact +GARD:0017536,OMIM,266150,NTBT +GARD:0017536,ICD-10,E74.4,NTBT +GARD:0017537,Orphanet,353314,Exact +GARD:0017537,OMIM,266150,NTBT +GARD:0017537,ICD-10,E74.4,NTBT +GARD:0017538,Orphanet,353320,Exact +GARD:0017538,OMIM,266150,NTBT +GARD:0017538,ICD-10,E74.4,NTBT +GARD:0017539,Orphanet,353327,Exact +GARD:0017539,OMIM,614750,BTNT +GARD:0017539,ICD-10,G70.2,NTBT +GARD:0017539,OMIM,610542,BTNT +GARD:0017539,OMIM,616228,BTNT +GARD:0017539,OMIM,616227,BTNT +GARD:0017540,Orphanet,356978,Exact +GARD:0017540,SNOMED-CT,713401006,NA +GARD:0017540,OMIM,615182,Exact +GARD:0017540,ICD-10,E72.8,NTBT +GARD:0017541,SNOMED-CT,787175002,NA +GARD:0017541,Orphanet,356996,Exact +GARD:0017541,ICD-10,G93.8,NTBT +GARD:0017541,OMIM,615493,Exact +GARD:0017542,SNOMED-CT,764440006,NA +GARD:0017542,Orphanet,357001,Exact +GARD:0017542,ICD-10,Q93.5,NTBT +GARD:0017542,OMIM,613638,Exact +GARD:0017543,Orphanet,357008,Exact +GARD:0017543,ICD-10,D58.8,NTBT +GARD:0017543,OMIM,615008,NTBT +GARD:0017544,Orphanet,357027,Exact +GARD:0017544,OMIM,180200,NTBT +GARD:0017544,ICD-10,C69.2,NTBT +GARD:0017544,UMLS,C0751483,Exact +GARD:0017545,Orphanet,357034,Exact +GARD:0017545,OMIM,180200,NTBT +GARD:0017545,ICD-10,C69.2,NTBT +GARD:0017546,Orphanet,357074,Exact +GARD:0017546,OMIM,219200,Exact +GARD:0017546,OMIM,617403,Exact +GARD:0017546,OMIM,617402,Exact +GARD:0017546,ICD-10,Q82.8,NTBT +GARD:0017547,Orphanet,357158,Exact +GARD:0017547,ICD-10,Q87.0,NTBT +GARD:0017547,UMLS,C1865181,Exact +GARD:0017547,OMIM,602562,Exact +GARD:0017547,SNOMED-CT,773557002,NA +GARD:0017548,Orphanet,357175,Exact +GARD:0017548,OMIM,615162,Exact +GARD:0017548,ICD-10,Q87.8,NTBT +GARD:0017548,SNOMED-CT,773556006,NA +GARD:0017549,SNOMED-CT,771517009,NA +GARD:0017549,Orphanet,357237,Exact +GARD:0017549,OMIM,615206,Exact +GARD:0017549,ICD-10,D81.2,NTBT +GARD:0017550,Orphanet,357329,Exact +GARD:0017550,OMIM,615207,Exact +GARD:0017550,ICD-10,D81.8,NTBT +GARD:0017550,SNOMED-CT,784340000,NA +GARD:0017551,SNOMED-CT,783553008,NA +GARD:0017551,Orphanet,357332,Exact +GARD:0017551,ICD-10,Q87.2,NTBT +GARD:0017551,OMIM,615170,Exact +GARD:0017552,Orphanet,363400,Exact +GARD:0017552,ICD-10,G31.8,NTBT +GARD:0017552,OMIM,615924,Exact +GARD:0017552,SNOMED-CT,773555005,NA +GARD:0017553,Orphanet,363409,Exact +GARD:0017553,ICD-10,G71.2,NTBT +GARD:0017553,OMIM,615368,Exact +GARD:0017553,SNOMED-CT,763346009,NA +GARD:0017554,SNOMED-CT,777999008,NA +GARD:0017554,Orphanet,363412,Exact +GARD:0017554,OMIM,615281,Exact +GARD:0017554,ICD-10,E75.2,NTBT +GARD:0017555,Orphanet,363424,Exact +GARD:0017555,OMIM,615330,Exact +GARD:0017555,ICD-10,E88.8,NTBT +GARD:0017556,Orphanet,363429,Exact +GARD:0017556,OMIM,614831,BTNT +GARD:0017556,ICD-10,G11.1,NTBT +GARD:0017556,OMIM,616204,BTNT +GARD:0017556,SNOMED-CT,763312008,NA +GARD:0017557,Orphanet,363432,Exact +GARD:0017557,ICD-10,G11.1,NTBT +GARD:0017557,OMIM,616204,Exact +GARD:0017558,Orphanet,363444,Exact +GARD:0017558,OMIM,613680,Exact +GARD:0017558,ICD-10,Q87.0,NTBT +GARD:0017558,SNOMED-CT,773554009,NA +GARD:0017559,SNOMED-CT,772129007,NA +GARD:0017559,Orphanet,363447,Exact +GARD:0017559,OMIM,615290,BTNT +GARD:0017559,OMIM,158600,BTNT +GARD:0017559,ICD-10,G12.1,NTBT +GARD:0017559,UMLS,C1834690,Exact +GARD:0017560,SNOMED-CT,255106001,NA +GARD:0017560,Orphanet,363483,Exact +GARD:0017560,OMIM,273300,NTBT +GARD:0017560,UMLS,C0238451,Exact +GARD:0017560,ICD-10,C62.9,NTBT +GARD:0017561,SNOMED-CT,107691000119101,NA +GARD:0017561,Orphanet,363494,Exact +GARD:0017561,OMIM,273300,NTBT +GARD:0017561,ICD-10,C62.1,NTBT +GARD:0017562,SNOMED-CT,773553003,NA +GARD:0017562,Orphanet,363523,Exact +GARD:0017562,OMIM,615328,Exact +GARD:0017562,ICD-10,Q82.8,NTBT +GARD:0017563,SNOMED-CT,773405004,NA +GARD:0017563,Orphanet,363528,Exact +GARD:0017563,OMIM,615286,Exact +GARD:0017563,ICD-10,H50.8,NTBT +GARD:0017564,SNOMED-CT,782771007,NA +GARD:0017564,Orphanet,363534,Exact +GARD:0017564,OMIM,271245,Exact +GARD:0017564,ICD-10,E88.8,NTBT +GARD:0017565,Orphanet,363540,Exact +GARD:0017565,OMIM,615651,Exact +GARD:0017565,ICD-10,E75.2,NTBT +GARD:0017565,SNOMED-CT,768663003,NA +GARD:0017566,SNOMED-CT,773552008,NA +GARD:0017566,Orphanet,363611,Exact +GARD:0017566,ICD-10,Q87.8,NTBT +GARD:0017566,OMIM,615502,Exact +GARD:0017567,SNOMED-CT,770757004,NA +GARD:0017567,Orphanet,363654,Exact +GARD:0017567,OMIM,300911,Exact +GARD:0017567,ICD-10,G20,NTBT +GARD:0017568,Orphanet,363677,Exact +GARD:0017568,OMIM,605637,NTBT +GARD:0017568,ICD-10,G71.2,NTBT +GARD:0017568,SNOMED-CT,787172004,NA +GARD:0017569,Orphanet,363694,Exact +GARD:0017569,OMIM,613845,Exact +GARD:0017569,ICD-10,E88.8,NTBT +GARD:0017569,SNOMED-CT,776416004,NA +GARD:0017570,Orphanet,363700,Exact +GARD:0017570,ICD-10,Q85.0,NTBT +GARD:0017570,OMIM,162200,Exact +GARD:0017571,Orphanet,363705,Exact +GARD:0017571,OMIM,114620,Exact +GARD:0017571,UMLS,C2676032,Exact +GARD:0017571,ICD-10,Q87.0,NTBT +GARD:0017571,SNOMED-CT,763320005,NA +GARD:0017572,Orphanet,363717,Exact +GARD:0017572,OMIM,203450,NTBT +GARD:0017572,ICD-10,E75.2,NTBT +GARD:0017573,Orphanet,363722,Exact +GARD:0017573,OMIM,203450,NTBT +GARD:0017573,ICD-10,E75.2,NTBT +GARD:0017574,Orphanet,363727,Exact +GARD:0017574,OMIM,300835,Exact +GARD:0017574,ICD-10,D64.4,NTBT +GARD:0017574,SNOMED-CT,782759001,NA +GARD:0017575,Orphanet,363741,Exact +GARD:0017575,ICD-10,Q87.8,NTBT +GARD:0017575,UMLS,C1866256,Exact +GARD:0017575,OMIM,601794,Exact +GARD:0017575,SNOMED-CT,776204008,NA +GARD:0017576,Orphanet,363958,Exact +GARD:0017576,OMIM,610443,Exact +GARD:0017576,UMLS,C1864871,Exact +GARD:0017576,ICD-10,Q93.5,NTBT +GARD:0017577,Orphanet,363972,Exact +GARD:0017577,OMIM,613563,Exact +GARD:0017577,ICD-10,C93.3,BTNT +GARD:0017577,SNOMED-CT,783143001,NA +GARD:0017578,Orphanet,363981,Exact +GARD:0017578,OMIM,615284,Exact +GARD:0017578,ICD-10,G60.0,NTBT +GARD:0017578,SNOMED-CT,763345008,NA +GARD:0017579,Orphanet,363992,Exact +GARD:0017579,ICD-10,Q87.8,NTBT +GARD:0017579,OMIM,613195,Exact +GARD:0017579,SNOMED-CT,783551005,NA +GARD:0017580,Orphanet,363999,Exact +GARD:0017580,ICD-10,P56.9,BTNT +GARD:0017580,ICD-10,P83.2,BTNT +GARD:0017580,OMIM,236750,Exact +GARD:0017580,UMLS,C0455988,Exact +GARD:0017581,SNOMED-CT,783702009,NA +GARD:0017581,Orphanet,364028,Exact +GARD:0017581,ICD-10,F72,NTBT +GARD:0017581,OMIM,300699,Exact +GARD:0017582,SNOMED-CT,771223000,NA +GARD:0017582,Orphanet,364063,Exact +GARD:0017582,ICD-10,G40.4,NTBT +GARD:0017582,OMIM,308350,NTBT +GARD:0017583,Orphanet,364577,Exact +GARD:0017583,ICD-10,Q87.0,NTBT +GARD:0017583,UMLS,C1837564,Exact +GARD:0017583,OMIM,608670,Exact +GARD:0017583,SNOMED-CT,763744009,NA +GARD:0017584,SNOMED-CT,770755007,NA +GARD:0017584,Orphanet,369837,Exact +GARD:0017584,OMIM,615398,Exact +GARD:0017584,ICD-10,Q87.8,NTBT +GARD:0017585,Orphanet,369852,Exact +GARD:0017585,ICD-10,D70,NTBT +GARD:0017585,OMIM,615285,Exact +GARD:0017585,SNOMED-CT,775909002,NA +GARD:0017586,Orphanet,369861,Exact +GARD:0017586,OMIM,616084,Exact +GARD:0017586,ICD-10,D64.0,NTBT +GARD:0017586,SNOMED-CT,765327005,NA +GARD:0017587,SNOMED-CT,773414009,NA +GARD:0017587,Orphanet,369867,Exact +GARD:0017587,ICD-10,G60.0,NTBT +GARD:0017587,OMIM,615376,Exact +GARD:0017588,Orphanet,369891,Exact +GARD:0017588,OMIM,616789,Exact +GARD:0017588,ICD-10,Q87.8,NTBT +GARD:0017588,SNOMED-CT,787093004,NA +GARD:0017589,Orphanet,369913,Exact +GARD:0017589,ICD-10,E88.8,NTBT +GARD:0017589,OMIM,615440,Exact +GARD:0017589,SNOMED-CT,775908005,NA +GARD:0017590,SNOMED-CT,775907000,NA +GARD:0017590,Orphanet,369920,Exact +GARD:0017590,OMIM,615809,Exact +GARD:0017590,ICD-10,Q04.3,NTBT +GARD:0017591,SNOMED-CT,789063000,NA +GARD:0017591,Orphanet,369929,Exact +GARD:0017591,OMIM,615474,Exact +GARD:0017591,ICD-10,E26.0,NTBT +GARD:0017592,Orphanet,369939,Exact +GARD:0017592,ICD-10,Q87.8,NTBT +GARD:0017592,OMIM,300475,Exact +GARD:0017592,SNOMED-CT,770751003,NA +GARD:0017593,Orphanet,369970,Exact +GARD:0017593,SNOMED-CT,774212003,NA +GARD:0017593,OMIM,615458,Exact +GARD:0017593,ICD-10,Q15.8,NTBT +GARD:0017594,Orphanet,369992,Exact +GARD:0017594,OMIM,615508,Exact +GARD:0017594,SNOMED-CT,774211005,NA +GARD:0017594,ICD-10,Q82.8,NTBT +GARD:0017595,Orphanet,369999,Exact +GARD:0017595,OMIM,148700,NTBT +GARD:0017595,SNOMED-CT,778062008,NA +GARD:0017595,ICD-10,Q82.8,NTBT +GARD:0017596,SNOMED-CT,778051008,NA +GARD:0017596,Orphanet,370002,Exact +GARD:0017596,OMIM,148700,NTBT +GARD:0017596,ICD-10,Q82.8,NTBT +GARD:0017597,Orphanet,370022,Exact +GARD:0017597,ICD-10,G11.1,NTBT +GARD:0017597,OMIM,615960,Exact +GARD:0017597,SNOMED-CT,763344007,NA +GARD:0017598,SNOMED-CT,722057000,NA +GARD:0017598,Orphanet,370091,Exact +GARD:0017598,ICD-10,E70.3,NTBT +GARD:0017598,OMIM,615312,Exact +GARD:0017599,Orphanet,370097,Exact +GARD:0017599,OMIM,113750,NTBT +GARD:0017599,ICD-10,E70.3,NTBT +GARD:0017599,SNOMED-CT,722058005,NA +GARD:0017600,SNOMED-CT,447951009,NA +GARD:0017600,Orphanet,370334,Exact +GARD:0017600,UMLS,C0279980,Exact +GARD:0017600,ICD-10,C49.9,NTBT +GARD:0017600,OMIM,612219,NTBT +GARD:0017601,SNOMED-CT,253096008,NA +GARD:0017601,Orphanet,370348,Exact +GARD:0017601,OMIM,612219,NTBT +GARD:0017601,ICD-10,C71.9,NTBT +GARD:0017601,UMLS,C0684337,Exact +GARD:0017602,SNOMED-CT,733111000,NA +GARD:0017602,Orphanet,370921,Exact +GARD:0017602,ICD-10,E77.8,NTBT +GARD:0017602,OMIM,615596,Exact +GARD:0017603,Orphanet,370924,Exact +GARD:0017603,SNOMED-CT,733112007,NA +GARD:0017603,UMLS,C2931007,Exact +GARD:0017603,ICD-10,E77.8,NTBT +GARD:0017603,OMIM,615597,Exact +GARD:0017604,Orphanet,370943,Exact +GARD:0017604,OMIM,615553,Exact +GARD:0017604,ICD-10,Q87.8,NTBT +GARD:0017604,SNOMED-CT,733623005,NA +GARD:0017605,Orphanet,370959,Exact +GARD:0017605,OMIM,615351,NTBT +GARD:0017605,OMIM,613156,NTBT +GARD:0017605,OMIM,613155,NTBT +GARD:0017605,ICD-10,G71.2,NTBT +GARD:0017605,OMIM,613151,BTNT +GARD:0017605,OMIM,606612,NTBT +GARD:0017605,SNOMED-CT,783176002,NA +GARD:0017606,SNOMED-CT,783174004,NA +GARD:0017606,Orphanet,370968,Exact +GARD:0017606,OMIM,618992,NTBT +GARD:0017606,OMIM,615351,NTBT +GARD:0017606,OMIM,606612,NTBT +GARD:0017606,OMIM,608840,NTBT +GARD:0017606,OMIM,613155,NTBT +GARD:0017606,ICD-10,G71.2,NTBT +GARD:0017606,OMIM,613156,NTBT +GARD:0017607,Orphanet,370980,Exact +GARD:0017607,ICD-10,G71.2,NTBT +GARD:0017607,OMIM,606612,NTBT +GARD:0017607,SNOMED-CT,783175003,NA +GARD:0017607,OMIM,613152,BTNT +GARD:0017608,Orphanet,370997,Exact +GARD:0017608,OMIM,616538,NTBT +GARD:0017608,ICD-10,G71.0,NTBT +GARD:0017608,SNOMED-CT,785298001,NA +GARD:0017609,Orphanet,371364,Exact +GARD:0017609,OMIM,616801,BTNT +GARD:0017609,OMIM,615419,BTNT +GARD:0017609,ICD-10,Q87.8,NTBT +GARD:0017609,SNOMED-CT,763722004,NA +GARD:0017610,SNOMED-CT,716868003,NA +GARD:0017610,Orphanet,371428,Exact +GARD:0017610,OMIM,259600,BTNT +GARD:0017610,ICD-10,M89.5,NTBT +GARD:0017610,OMIM,277950,BTNT +GARD:0017611,Orphanet,391307,Exact +GARD:0017611,OMIM,615541,Exact +GARD:0017611,ICD-10,Q87.8,NTBT +GARD:0017611,SNOMED-CT,773419004,NA +GARD:0017612,Orphanet,391311,Exact +GARD:0017612,ICD-10,D84.8,NTBT +GARD:0017612,OMIM,613796,Exact +GARD:0017612,SNOMED-CT,778045003,NA +GARD:0017613,Orphanet,391320,Exact +GARD:0017613,ICD-10,D68.2,NTBT +GARD:0017613,OMIM,605913,Exact +GARD:0017613,UMLS,C1853831,Exact +GARD:0017613,SNOMED-CT,773422002,NA +GARD:0017614,SNOMED-CT,782785002,NA +GARD:0017614,Orphanet,391330,Exact +GARD:0017614,ICD-10,M80.5,NTBT +GARD:0017614,OMIM,300910,ND (not yet decided/unable to decide) +GARD:0017615,Orphanet,391348,Exact +GARD:0017615,OMIM,615578,Exact +GARD:0017615,ICD-10,E88.8,NTBT +GARD:0017615,SNOMED-CT,774205007,NA +GARD:0017616,SNOMED-CT,765047006,NA +GARD:0017616,Orphanet,391351,Exact +GARD:0017616,ICD-10,G60.0,NTBT +GARD:0017616,OMIM,616684,Exact +GARD:0017617,Orphanet,391376,Exact +GARD:0017617,ICD-10,E72.8,NTBT +GARD:0017617,OMIM,615574,Exact +GARD:0017617,SNOMED-CT,782757004,NA +GARD:0017618,Orphanet,391389,Exact +GARD:0017618,OMIM,615040,Exact +GARD:0017618,ICD-10,M79.6,NTBT +GARD:0017619,Orphanet,391392,Exact +GARD:0017619,ICD-10,M79.6,NTBT +GARD:0017619,OMIM,615552,Exact +GARD:0017620,Orphanet,391408,Exact +GARD:0017620,OMIM,616817,BTNT +GARD:0017620,SNOMED-CT,782755007,NA +GARD:0017620,ICD-10,Q87.8,NTBT +GARD:0017620,OMIM,616033,BTNT +GARD:0017621,Orphanet,391411,Exact +GARD:0017621,ICD-10,G20,NTBT +GARD:0017621,OMIM,615528,BTNT +GARD:0017621,OMIM,615530,BTNT +GARD:0017621,SNOMED-CT,725146001,NA +GARD:0017622,Orphanet,391428,Exact +GARD:0017622,ICD-10,E72.8,NTBT +GARD:0017622,OMIM,300438,NTBT +GARD:0017623,Orphanet,391457,Exact +GARD:0017623,ICD-10,E72.8,NTBT +GARD:0017623,OMIM,300438,NTBT +GARD:0017624,Orphanet,391641,Exact +GARD:0017624,OMIM,164280,Exact +GARD:0017624,ICD-10,Q87.8,NTBT +GARD:0017625,Orphanet,391646,Exact +GARD:0017625,OMIM,614326,Exact +GARD:0017625,ICD-10,Q87.8,NTBT +GARD:0017626,Orphanet,394529,Exact +GARD:0017626,OMIM,231680,NTBT +GARD:0017626,ICD-10,E71.3,NTBT +GARD:0017626,OMIM,255100,NTBT +GARD:0017627,Orphanet,394532,Exact +GARD:0017627,OMIM,231680,NTBT +GARD:0017627,OMIM,255100,NTBT +GARD:0017627,ICD-10,E71.3,NTBT +GARD:0017628,Orphanet,397590,Exact +GARD:0017628,OMIM,618907,BTNT +GARD:0017628,OMIM,616489,BTNT +GARD:0017628,OMIM,618908,BTNT +GARD:0017628,ICD-10,Q87.1,NTBT +GARD:0017629,Orphanet,397593,Exact +GARD:0017629,ICD-10,E88.8,NTBT +GARD:0017629,OMIM,615595,BTNT +GARD:0017629,SNOMED-CT,773423007,NA +GARD:0017630,SNOMED-CT,763773007,NA +GARD:0017630,Orphanet,397612,Exact +GARD:0017630,OMIM,615637,Exact +GARD:0017630,ICD-10,Q75.3,NTBT +GARD:0017631,SNOMED-CT,783549006,NA +GARD:0017631,Orphanet,397615,Exact +GARD:0017631,OMIM,615703,Exact +GARD:0017631,ICD-10,E66.8,NTBT +GARD:0017632,Orphanet,397618,Exact +GARD:0017632,ICD-10,Q15.8,NTBT +GARD:0017632,OMIM,609218,Exact +GARD:0017632,SNOMED-CT,782754006,NA +GARD:0017633,Orphanet,397623,Exact +GARD:0017633,OMIM,602471,Exact +GARD:0017633,ICD-10,Q87.1,NTBT +GARD:0017633,UMLS,C1865361,Exact +GARD:0017633,SNOMED-CT,774155009,NA +GARD:0017634,SNOMED-CT,763715007,NA +GARD:0017634,Orphanet,397685,Exact +GARD:0017634,ICD-10,E22.1,NTBT +GARD:0017634,OMIM,615555,Exact +GARD:0017635,SNOMED-CT,783255002,NA +GARD:0017635,Orphanet,397692,Exact +GARD:0017635,OMIM,616553,BTNT +GARD:0017635,ICD-10,D61.0,NTBT +GARD:0017636,SNOMED-CT,782753000,NA +GARD:0017636,Orphanet,397709,Exact +GARD:0017636,ICD-10,Q87.8,NTBT +GARD:0017636,OMIM,616354,Exact +GARD:0017637,Orphanet,397715,Exact +GARD:0017637,OMIM,615636,BTNT +GARD:0017637,OMIM,616546,BTNT +GARD:0017637,ICD-10,Q04.3,NTBT +GARD:0017637,SNOMED-CT,733418003,NA +GARD:0017638,SNOMED-CT,765046002,NA +GARD:0017638,Orphanet,397735,Exact +GARD:0017638,ICD-10,G60.0,NTBT +GARD:0017638,OMIM,616280,Exact +GARD:0017639,SNOMED-CT,782752005,NA +GARD:0017639,Orphanet,397744,Exact +GARD:0017639,ICD-10,G60.0,NTBT +GARD:0017639,OMIM,614369,Exact +GARD:0017640,SNOMED-CT,774152007,NA +GARD:0017640,Orphanet,397758,Exact +GARD:0017640,OMIM,616079,Exact +GARD:0017640,ICD-10,H35.5,NTBT +GARD:0017641,Orphanet,397787,Exact +GARD:0017641,OMIM,615592,Exact +GARD:0017641,SNOMED-CT,782751003,NA +GARD:0017641,ICD-10,D81.2,NTBT +GARD:0017641,OMIM,618204,BTNT +GARD:0017642,Orphanet,397927,Exact +GARD:0017642,OMIM,615709,Exact +GARD:0017642,ICD-10,Q87.5,NTBT +GARD:0017642,SNOMED-CT,774150004,NA +GARD:0017643,Orphanet,397937,Exact +GARD:0017643,OMIM,615895,NTBT +GARD:0017643,ICD-10,E74.0,NTBT +GARD:0017643,SNOMED-CT,774148007,NA +GARD:0017644,SNOMED-CT,770720005,NA +GARD:0017644,Orphanet,397946,Exact +GARD:0017644,OMIM,611302,Exact +GARD:0017644,ICD-10,G11.4,NTBT +GARD:0017645,Orphanet,397951,Exact +GARD:0017645,OMIM,615599,Exact +GARD:0017645,ICD-10,Q87.8,NTBT +GARD:0017645,SNOMED-CT,770721009,NA +GARD:0017646,Orphanet,397959,Exact +GARD:0017646,OMIM,615387,Exact +GARD:0017646,ICD-10,D81.8,NTBT +GARD:0017646,SNOMED-CT,782750002,NA +GARD:0017647,Orphanet,397964,Exact +GARD:0017647,OMIM,615468,Exact +GARD:0017647,ICD-10,D81.8,NTBT +GARD:0017647,SNOMED-CT,773488000,NA +GARD:0017648,Orphanet,397973,Exact +GARD:0017648,OMIM,606772,Exact +GARD:0017648,UMLS,C1847522,Exact +GARD:0017648,ICD-10,Q87.8,NTBT +GARD:0017648,SNOMED-CT,774102003,NA +GARD:0017649,Orphanet,398173,Exact +GARD:0017649,ICD-10,Q82.8,NTBT +GARD:0017649,UMLS,C1744559,Exact +GARD:0017649,OMIM,614973,Exact +GARD:0017650,Orphanet,398189,Exact +GARD:0017650,ICD-10,Q82.8,NTBT +GARD:0017650,OMIM,614974,Exact +GARD:0017651,SNOMED-CT,783770002,NA +GARD:0017651,Orphanet,399058,Exact +GARD:0017651,OMIM,608810,Exact +GARD:0017651,ICD-10,G71.0,NTBT +GARD:0017652,Orphanet,399086,Exact +GARD:0017652,UMLS,C1864706,Exact +GARD:0017652,OMIM,610099,Exact +GARD:0017652,ICD-10,G71.0,NTBT +GARD:0017652,SNOMED-CT,763718009,NA +GARD:0017653,SNOMED-CT,783166000,NA +GARD:0017653,Orphanet,399096,Exact +GARD:0017653,ICD-10,G71.0,NTBT +GARD:0017653,UMLS,C2750076,Exact +GARD:0017653,OMIM,613319,Exact +GARD:0017654,Orphanet,399808,Exact +GARD:0017654,OMIM,301059,BTNT +GARD:0017654,ICD-10,N46,NTBT +GARD:0017654,OMIM,102530,BTNT +GARD:0017654,OMIM,619145,BTNT +GARD:0017654,OMIM,619258,BTNT +GARD:0017654,OMIM,243060,BTNT +GARD:0017654,OMIM,619044,BTNT +GARD:0017654,OMIM,613958,BTNT +GARD:0017654,OMIM,619102,BTNT +GARD:0017654,OMIM,619144,BTNT +GARD:0017654,OMIM,619177,BTNT +GARD:0017654,OMIM,615413,BTNT +GARD:0017654,OMIM,619095,BTNT +GARD:0017654,OMIM,619094,BTNT +GARD:0017654,SNOMED-CT,764096006,NA +GARD:0017655,Orphanet,401764,Exact +GARD:0017655,OMIM,615715,Exact +GARD:0017655,ICD-10,D61.0,NTBT +GARD:0017655,SNOMED-CT,774071007,NA +GARD:0017656,Orphanet,401780,Exact +GARD:0017656,OMIM,615685,Exact +GARD:0017656,ICD-10,G11.4,NTBT +GARD:0017656,SNOMED-CT,726611001,NA +GARD:0017657,SNOMED-CT,765045003,NA +GARD:0017657,Orphanet,401785,Exact +GARD:0017657,ICD-10,G11.4,NTBT +GARD:0017657,OMIM,615681,Exact +GARD:0017658,Orphanet,401805,Exact +GARD:0017658,ICD-10,G11.4,NTBT +GARD:0017658,OMIM,615686,Exact +GARD:0017658,SNOMED-CT,726610000,NA +GARD:0017659,SNOMED-CT,726609005,NA +GARD:0017659,Orphanet,401810,Exact +GARD:0017659,ICD-10,G11.4,NTBT +GARD:0017659,OMIM,615683,Exact +GARD:0017660,Orphanet,401849,Exact +GARD:0017660,OMIM,615625,Exact +GARD:0017660,ICD-10,G11.4,NTBT +GARD:0017660,SNOMED-CT,782727008,NA +GARD:0017661,Orphanet,401869,Exact +GARD:0017661,OMIM,605711,Exact +GARD:0017661,ICD-10,E88.8,NTBT +GARD:0017662,Orphanet,401874,Exact +GARD:0017662,OMIM,614299,Exact +GARD:0017662,ICD-10,E88.8,NTBT +GARD:0017663,Orphanet,401942,Exact +GARD:0017663,OMIM,615892,Exact +GARD:0017663,ICD-10,Q36.1,NTBT +GARD:0017663,SNOMED-CT,718552009,NA +GARD:0017664,SNOMED-CT,718551002,NA +GARD:0017664,Orphanet,401945,Exact +GARD:0017664,ICD-10,I67.5,NTBT +GARD:0017664,OMIM,615750,Exact +GARD:0017665,SNOMED-CT,773495009,NA +GARD:0017665,Orphanet,401953,Exact +GARD:0017665,OMIM,616055,Exact +GARD:0017665,ICD-10,G11.8,NTBT +GARD:0017666,SNOMED-CT,782739000,NA +GARD:0017666,Orphanet,401973,Exact +GARD:0017666,OMIM,300960,Exact +GARD:0017666,ICD-10,Q87.8,NTBT +GARD:0017667,Orphanet,401979,Exact +GARD:0017667,ICD-10,Q77.8,NTBT +GARD:0017667,OMIM,613320,Exact +GARD:0017667,SNOMED-CT,782782004,NA +GARD:0017667,UMLS,C2750075,Exact +GARD:0017668,SNOMED-CT,766766005,NA +GARD:0017668,Orphanet,401986,Exact +GARD:0017668,ICD-10,Q93.5,NTBT +GARD:0017668,OMIM,613735,NTBT +GARD:0017669,Orphanet,402003,Exact +GARD:0017669,ICD-10,Q82.8,NTBT +GARD:0017669,OMIM,615735,Exact +GARD:0017669,SNOMED-CT,783136007,NA +GARD:0017670,Orphanet,402075,Exact +GARD:0017670,ICD-10,Q23.1,NTBT +GARD:0017670,OMIM,109730,Exact +GARD:0017670,OMIM,614823,BTNT +GARD:0017670,SNOMED-CT,770435005,NA +GARD:0017671,Orphanet,402082,Exact +GARD:0017671,OMIM,607459,NTBT +GARD:0017671,ICD-10,G40.3,NTBT +GARD:0017671,SNOMED-CT,783055005,NA +GARD:0017672,Orphanet,404437,Exact +GARD:0017672,ICD-10,G98,NTBT +GARD:0017672,OMIM,615760,Exact +GARD:0017672,SNOMED-CT,782737003,NA +GARD:0017673,Orphanet,404440,Exact +GARD:0017673,OMIM,615761,Exact +GARD:0017673,ICD-10,Q87.0,NTBT +GARD:0017673,SNOMED-CT,782736007,NA +GARD:0017674,Orphanet,404443,Exact +GARD:0017674,ICD-10,Q87.3,NTBT +GARD:0017674,OMIM,615879,Exact +GARD:0017674,SNOMED-CT,768843007,NA +GARD:0017675,Orphanet,404466,Exact +GARD:0017675,OMIM,617712,Exact +GARD:0017675,OMIM,615774,Exact +GARD:0017675,OMIM,618353,Exact +GARD:0017675,ICD-10,N97.8,NTBT +GARD:0017675,SNOMED-CT,770726004,NA +GARD:0017676,SNOMED-CT,782722002,NA +GARD:0017676,Orphanet,404476,Exact +GARD:0017676,ICD-10,Q87.3,NTBT +GARD:0017676,OMIM,618272,Exact +GARD:0017677,Orphanet,404493,Exact +GARD:0017677,OMIM,616949,Exact +GARD:0017677,ICD-10,G11.1,NTBT +GARD:0017677,SNOMED-CT,773498006,NA +GARD:0017678,Orphanet,404499,Exact +GARD:0017678,ICD-10,G11.1,NTBT +GARD:0017678,OMIM,615705,Exact +GARD:0017678,SNOMED-CT,782721009,NA +GARD:0017679,SNOMED-CT,784339002,NA +GARD:0017679,Orphanet,404546,Exact +GARD:0017679,OMIM,614204,NTBT +GARD:0017679,ICD-10,L40.1,NTBT +GARD:0017680,Orphanet,411493,Exact +GARD:0017680,ICD-10,Q04.3,NTBT +GARD:0017680,OMIM,615803,Exact +GARD:0017680,SNOMED-CT,782720005,NA +GARD:0017681,Orphanet,411536,Exact +GARD:0017681,ICD-10,E79.8,NTBT +GARD:0017681,OMIM,300661,NTBT +GARD:0017682,Orphanet,411543,Exact +GARD:0017682,ICD-10,E79.8,NTBT +GARD:0017682,OMIM,300661,NTBT +GARD:0017683,SNOMED-CT,734022008,NA +GARD:0017683,Orphanet,411590,Exact +GARD:0017683,ICD-10,E13.8,NTBT +GARD:0017683,OMIM,614296,Exact +GARD:0017683,UMLS,C3280358,Exact +GARD:0017684,SNOMED-CT,716662004,NA +GARD:0017684,Orphanet,411602,Exact +GARD:0017684,OMIM,614203,BTNT +GARD:0017684,OMIM,607688,BTNT +GARD:0017684,OMIM,616361,BTNT +GARD:0017684,ICD-10,G20,NTBT +GARD:0017684,OMIM,168601,BTNT +GARD:0017684,OMIM,607060,BTNT +GARD:0017684,OMIM,614251,BTNT +GARD:0017684,OMIM,605543,BTNT +GARD:0017685,Orphanet,411634,Exact +GARD:0017685,UMLS,C0268626,Exact +GARD:0017685,ICD-10,E72.0+,NTBT +GARD:0017685,ICD-10,N16.3*,NTBT +GARD:0017685,OMIM,219900,Exact +GARD:0017686,Orphanet,411712,Exact +GARD:0017686,OMIM,615026,Exact +GARD:0017686,ICD-10,P00.4,NTBT +GARD:0017686,SNOMED-CT,773549000,NA +GARD:0017687,SNOMED-CT,773548008,NA +GARD:0017687,Orphanet,411986,Exact +GARD:0017687,OMIM,615859,Exact +GARD:0017687,ICD-10,G40.4,NTBT +GARD:0017688,SNOMED-CT,770728003,NA +GARD:0017688,Orphanet,412022,Exact +GARD:0017688,ICD-10,Q87.0,NTBT +GARD:0017688,UMLS,C1832167,Exact +GARD:0017688,OMIM,601552,Exact +GARD:0017689,Orphanet,412057,Exact +GARD:0017689,OMIM,615768,Exact +GARD:0017689,ICD-10,G11.1,NTBT +GARD:0017689,SNOMED-CT,782719004,NA +GARD:0017690,Orphanet,412181,Exact +GARD:0017690,OMIM,615425,Exact +GARD:0017690,SNOMED-CT,773501006,NA +GARD:0017690,ICD-10,Q81.0,NTBT +GARD:0017691,Orphanet,412189,Exact +GARD:0017691,OMIM,615028,Exact +GARD:0017691,ICD-10,Q81.0,NTBT +GARD:0017691,SNOMED-CT,773503009,NA +GARD:0017692,Orphanet,412206,Exact +GARD:0017692,UMLS,C1852222,Exact +GARD:0017692,OMIM,125350,Exact +GARD:0017692,ICD-10,K00.8,NTBT +GARD:0017693,Orphanet,420485,Exact +GARD:0017693,OMIM,615034,Exact +GARD:0017693,ICD-10,G24.8,NTBT +GARD:0017693,SNOMED-CT,783179009,NA +GARD:0017694,SNOMED-CT,783242003,NA +GARD:0017694,Orphanet,420492,Exact +GARD:0017694,OMIM,614860,Exact +GARD:0017694,ICD-10,G24.8,NTBT +GARD:0017695,Orphanet,420566,Exact +GARD:0017695,OMIM,615888,Exact +GARD:0017695,ICD-10,D69.1,NTBT +GARD:0017695,SNOMED-CT,725105006,NA +GARD:0017696,Orphanet,420573,Exact +GARD:0017696,ICD-10,D81.2,NTBT +GARD:0017696,OMIM,615897,Exact +GARD:0017696,SNOMED-CT,763623001,NA +GARD:0017697,Orphanet,420686,Exact +GARD:0017697,OMIM,616099,Exact +GARD:0017697,ICD-10,Q82.8,NTBT +GARD:0017697,SNOMED-CT,764108000,NA +GARD:0017698,SNOMED-CT,783201001,NA +GARD:0017698,Orphanet,420702,Exact +GARD:0017698,ICD-10,D70,NTBT +GARD:0017698,OMIM,617014,Exact +GARD:0017699,SNOMED-CT,783178001,NA +GARD:0017699,Orphanet,420728,Exact +GARD:0017699,OMIM,615917,Exact +GARD:0017699,ICD-10,E88.8,NTBT +GARD:0017700,Orphanet,420733,Exact +GARD:0017700,ICD-10,E88.8,NTBT +GARD:0017700,OMIM,615918,Exact +GARD:0017700,SNOMED-CT,763211004,NA +GARD:0017701,Orphanet,420741,Exact +GARD:0017701,SNOMED-CT,783099001,NA +GARD:0017701,UMLS,C2677792,Exact +GARD:0017701,ICD-10,D82.8,NTBT +GARD:0017701,OMIM,611943,Exact +GARD:0017702,Orphanet,423384,Exact +GARD:0017702,SNOMED-CT,783199003,NA +GARD:0017702,OMIM,616022,Exact +GARD:0017702,ICD-10,D70,NTBT +GARD:0017703,SNOMED-CT,764995008,NA +GARD:0017703,Orphanet,423454,Exact +GARD:0017703,OMIM,616029,Exact +GARD:0017703,ICD-10,Q82.8,NTBT +GARD:0017704,Orphanet,423461,Exact +GARD:0017704,ICD-10,E77.0,NTBT +GARD:0017704,OMIM,252600,Exact +GARD:0017705,Orphanet,423470,Exact +GARD:0017705,ICD-10,E77.0,NTBT +GARD:0017705,OMIM,252605,Exact +GARD:0017705,UMLS,C1854896,Exact +GARD:0017706,Orphanet,424027,Exact +GARD:0017706,ICD-10,G40.3,NTBT +GARD:0017706,SNOMED-CT,783139000,NA +GARD:0017706,OMIM,616230,Exact +GARD:0017707,Orphanet,424099,Exact +GARD:0017707,ICD-10,Q87.5,NTBT +GARD:0017707,OMIM,615877,Exact +GARD:0017707,SNOMED-CT,764942005,NA +GARD:0017708,SNOMED-CT,725907002,NA +GARD:0017708,Orphanet,424261,Exact +GARD:0017708,OMIM,617072,Exact +GARD:0017708,ICD-10,G71.0,NTBT +GARD:0017709,Orphanet,431140,Exact +GARD:0017709,OMIM,300915,Exact +GARD:0017709,ICD-10,Q87.0,NTBT +GARD:0017709,SNOMED-CT,771148008,NA +GARD:0017710,SNOMED-CT,766879006,NA +GARD:0017710,Orphanet,431149,Exact +GARD:0017710,OMIM,615593,Exact +GARD:0017710,ICD-10,D81.8,NTBT +GARD:0017711,Orphanet,431166,Exact +GARD:0017711,ICD-10,D84.8,NTBT +GARD:0017711,OMIM,616669,Exact +GARD:0017711,OMIM,616636,Exact +GARD:0017711,SNOMED-CT,783245001,NA +GARD:0017712,SNOMED-CT,723826007,NA +GARD:0017712,Orphanet,431329,Exact +GARD:0017712,ICD-10,G11.4,NTBT +GARD:0017712,OMIM,615658,Exact +GARD:0017713,Orphanet,435329,Exact +GARD:0017713,OMIM,137575,Exact +GARD:0017713,ICD-10,D16.4,NTBT +GARD:0017714,Orphanet,435387,Exact +GARD:0017714,ICD-10,G60.0,NTBT +GARD:0017714,OMIM,616687,Exact +GARD:0017715,Orphanet,435438,Exact +GARD:0017715,OMIM,616187,Exact +GARD:0017715,ICD-10,G40.3,NTBT +GARD:0017716,Orphanet,435628,Exact +GARD:0017716,OMIM,614098,Exact +GARD:0017716,ICD-10,E88.1,NTBT +GARD:0017717,Orphanet,435804,Exact +GARD:0017717,OMIM,165800,Exact +GARD:0017717,ICD-10,M89.8,NTBT +GARD:0017718,Orphanet,435845,Exact +GARD:0017718,OMIM,618056,NTBT +GARD:0017718,ICD-10,G40.4,NTBT +GARD:0017718,OMIM,614498,Exact +GARD:0017719,Orphanet,435930,Exact +GARD:0017719,OMIM,212550,Exact +GARD:0017719,ICD-10,Q14.8,NTBT +GARD:0017720,Orphanet,435934,Exact +GARD:0017720,OMIM,617395,Exact +GARD:0017720,ICD-10,E77.8,NTBT +GARD:0017721,Orphanet,435938,Exact +GARD:0017721,ICD-10,Q87.8,NTBT +GARD:0017721,OMIM,300998,NTBT +GARD:0017722,Orphanet,435953,Exact +GARD:0017722,OMIM,616200,Exact +GARD:0017723,Orphanet,435998,Exact +GARD:0017723,ICD-10,G60.0,NTBT +GARD:0017723,OMIM,616039,Exact +GARD:0017724,Orphanet,436151,Exact +GARD:0017724,OMIM,616083,BTNT +GARD:0017724,OMIM,616078,BTNT +GARD:0017724,ICD-10,Q87.0,NTBT +GARD:0017725,Orphanet,436166,Exact +GARD:0017725,OMIM,616050,Exact +GARD:0017725,ICD-10,E85.0,NTBT +GARD:0017726,Orphanet,436169,Exact +GARD:0017726,UMLS,C3280976,Exact +GARD:0017726,OMIM,614486,Exact +GARD:0017726,ICD-10,D68.3,NTBT +GARD:0017727,Orphanet,436174,Exact +GARD:0017727,ICD-10,E88.8,NTBT +GARD:0017727,OMIM,616007,Exact +GARD:0017728,Orphanet,436182,Exact +GARD:0017728,ICD-10,Q87.1,NTBT +GARD:0017728,OMIM,617253,BTNT +GARD:0017728,OMIM,616541,BTNT +GARD:0017729,Orphanet,436242,Exact +GARD:0017729,ICD-10,I45.8,NTBT +GARD:0017729,OMIM,616117,Exact +GARD:0017730,Orphanet,436245,Exact +GARD:0017730,ICD-10,Q87.8,BTNT +GARD:0017730,OMIM,616108,Exact +GARD:0017731,Orphanet,436252,Exact +GARD:0017731,OMIM,243150,Exact +GARD:0017731,ICD-10,Q82.8,NTBT +GARD:0017732,Orphanet,437552,Exact +GARD:0017732,ICD-10,D84.8,NTBT +GARD:0017732,OMIM,615707,Exact +GARD:0017733,Orphanet,438075,Exact +GARD:0017733,OMIM,616095,Exact +GARD:0017733,ICD-10,E88.8,NTBT +GARD:0017734,Orphanet,438114,Exact +GARD:0017734,ICD-10,E75.2,NTBT +GARD:0017734,OMIM,616140,Exact +GARD:0017735,Orphanet,438117,Exact +GARD:0017735,OMIM,615155,Exact +GARD:0017735,ICD-10,Q87.5,NTBT +GARD:0017736,Orphanet,438134,Exact +GARD:0017736,OMIM,615919,Exact +GARD:0017736,ICD-10,G11.3,NTBT +GARD:0017737,Orphanet,438159,Exact +GARD:0017737,ICD-10,M35.8,NTBT +GARD:0017737,OMIM,615952,Exact +GARD:0017738,Orphanet,438207,Exact +GARD:0017738,OMIM,616176,Exact +GARD:0017738,ICD-10,D69.4,NTBT +GARD:0017739,Orphanet,438213,Exact +GARD:0017739,ICD-10,G40.4,NTBT +GARD:0017739,OMIM,616158,BTNT +GARD:0017740,Orphanet,438216,Exact +GARD:0017740,ICD-10,G40.4,NTBT +GARD:0017740,OMIM,616158,Exact +GARD:0017741,Orphanet,439254,Exact +GARD:0017741,OMIM,176500,BTNT +GARD:0017741,ICD-10,E85.4+,NTBT +GARD:0017741,OMIM,117300,BTNT +GARD:0017741,ICD-10,I68.0*,NTBT +GARD:0017742,Orphanet,439822,Exact +GARD:0017742,OMIM,615668,ND (not yet decided/unable to decide) +GARD:0017743,Orphanet,439897,Exact +GARD:0017743,OMIM,616258,Exact +GARD:0017744,Orphanet,440392,Exact +GARD:0017744,ICD-10,J84.8,NTBT +GARD:0017744,OMIM,610913,NTBT +GARD:0017745,Orphanet,440402,Exact +GARD:0017745,ICD-10,J84.8,NTBT +GARD:0017745,OMIM,610921,Exact +GARD:0017746,Orphanet,440427,Exact +GARD:0017746,OMIM,615486,Exact +GARD:0017746,ICD-10,J84.0,NTBT +GARD:0017747,SNOMED-CT,124667004,NA +GARD:0017747,Orphanet,440706,Exact +GARD:0017747,ICD-10,G93.8,NTBT +GARD:0017747,UMLS,C1291609,Exact +GARD:0017747,OMIM,608611,Exact +GARD:0017748,Orphanet,440731,Exact +GARD:0017748,ICD-10,E88.0,NTBT +GARD:0017748,OMIM,615604,Exact +GARD:0017749,Orphanet,443057,Exact +GARD:0017749,ICD-10,E80.1,NTBT +GARD:0017749,UMLS,C1867968,Exact +GARD:0017749,OMIM,176090,Exact +GARD:0017750,Orphanet,443062,Exact +GARD:0017750,ICD-10,E80.1,NTBT +GARD:0017750,OMIM,176100,Exact +GARD:0017751,Orphanet,443073,Exact +GARD:0017751,OMIM,616155,Exact +GARD:0017751,ICD-10,G60.0,NTBT +GARD:0017752,SNOMED-CT,49013001,NA +GARD:0017752,Orphanet,443087,Exact +GARD:0017752,ICD-10,E29.1,NTBT +GARD:0017752,UMLS,C1839840,Exact +GARD:0017752,OMIM,614279,Exact +GARD:0017753,Orphanet,443098,Exact +GARD:0017753,OMIM,144755,Exact +GARD:0017753,ICD-10,M85.2,NTBT +GARD:0017753,UMLS,C1840404,Exact +GARD:0017754,Orphanet,443192,Exact +GARD:0017754,ICD-10,G25.8,NTBT +GARD:0017754,OMIM,184850,NTBT +GARD:0017755,Orphanet,443197,Exact +GARD:0017755,OMIM,300752,Exact +GARD:0017755,UMLS,C2677889,Exact +GARD:0017755,ICD-10,E80.0,NTBT +GARD:0017756,Orphanet,443804,Exact +GARD:0017756,OMIM,184850,NTBT +GARD:0017756,ICD-10,G25.8,NTBT +GARD:0017757,Orphanet,443988,Exact +GARD:0017757,UMLS,C1857423,Exact +GARD:0017757,OMIM,219730,Exact +GARD:0017758,Orphanet,443995,Exact +GARD:0017758,ICD-10,Q75.4,NTBT +GARD:0017758,OMIM,616367,Exact +GARD:0017759,Orphanet,444013,Exact +GARD:0017759,OMIM,616198,Exact +GARD:0017759,ICD-10,E88.8,NTBT +GARD:0017760,Orphanet,444048,Exact +GARD:0017760,OMIM,616185,Exact +GARD:0017760,ICD-10,Q96.8,NTBT +GARD:0017761,Orphanet,444072,Exact +GARD:0017761,ICD-10,Q87.0,NTBT +GARD:0017761,OMIM,616202,Exact +GARD:0017762,Orphanet,444092,Exact +GARD:0017762,OMIM,616414,Exact +GARD:0017762,ICD-10,J84.8,NTBT +GARD:0017763,Orphanet,444099,Exact +GARD:0017763,ICD-10,G11.4,NTBT +GARD:0017763,OMIM,616282,Exact +GARD:0017764,Orphanet,444138,Exact +GARD:0017764,ICD-10,Q82.8,NTBT +GARD:0017764,OMIM,616295,Exact +GARD:0017765,Orphanet,444458,Exact +GARD:0017765,ICD-10,E88.8,NTBT +GARD:0017765,OMIM,616239,Exact +GARD:0017766,Orphanet,444463,Exact +GARD:0017766,ICD-10,D89.8,NTBT +GARD:0017766,OMIM,619220,Exact +GARD:0017767,Orphanet,445038,Exact +GARD:0017767,ICD-10,E71.1,NTBT +GARD:0017767,OMIM,616271,Exact +GARD:0017768,Orphanet,445062,Exact +GARD:0017768,OMIM,616192,Exact +GARD:0017768,ICD-10,G31.8,NTBT +GARD:0017769,Orphanet,445110,Exact +GARD:0017769,OMIM,616094,Exact +GARD:0017769,ICD-10,G71.0,NTBT +GARD:0017770,Orphanet,447760,Exact +GARD:0017770,OMIM,616586,Exact +GARD:0017770,ICD-10,G11.4,NTBT +GARD:0017771,Orphanet,447784,Exact +GARD:0017771,OMIM,614741,Exact +GARD:0017771,ICD-10,E74.4,NTBT +GARD:0017772,Orphanet,447877,Exact +GARD:0017772,OMIM,612591,BTNT +GARD:0017772,ICD-10,D12.6,NTBT +GARD:0017772,OMIM,615083,BTNT +GARD:0017773,Orphanet,447893,Exact +GARD:0017773,ICD-10,E75.2,NTBT +GARD:0017773,OMIM,607694,NTBT +GARD:0017774,Orphanet,447896,Exact +GARD:0017774,OMIM,607694,NTBT +GARD:0017774,ICD-10,E75.2,NTBT +GARD:0017775,Orphanet,447954,Exact +GARD:0017775,ICD-10,E88.8,NTBT +GARD:0017775,OMIM,616430,Exact +GARD:0017776,Orphanet,447961,Exact +GARD:0017776,OMIM,618373,Exact +GARD:0017777,Orphanet,447964,Exact +GARD:0017777,ICD-10,G60.0,NTBT +GARD:0017777,OMIM,616491,Exact +GARD:0017778,Orphanet,447974,Exact +GARD:0017778,OMIM,616549,Exact +GARD:0017778,ICD-10,Q76.1,NTBT +GARD:0017779,Orphanet,447977,Exact +GARD:0017779,ICD-10,G71.0,NTBT +GARD:0017779,OMIM,616852,Exact +GARD:0017780,Orphanet,448251,Exact +GARD:0017780,OMIM,616291,Exact +GARD:0017780,ICD-10,G11.1,NTBT +GARD:0017781,Orphanet,448264,Exact +GARD:0017781,OMIM,616400,BTNT +GARD:0017781,OMIM,613000,BTNT +GARD:0017782,Orphanet,448267,Exact +GARD:0017782,ICD-10,Q77.8,NTBT +GARD:0017782,OMIM,618019,Exact +GARD:0017783,Orphanet,449291,Exact +GARD:0017783,OMIM,300624,NTBT +GARD:0017783,ICD-10,Q99.2,NTBT +GARD:0017784,Orphanet,451612,Exact +GARD:0017784,OMIM,149700,Exact +GARD:0017784,ICD-10,Q10.5,NTBT +GARD:0017785,Orphanet,453499,Exact +GARD:0017785,OMIM,616580,BTNT +GARD:0017786,Orphanet,453521,Exact +GARD:0017786,OMIM,616127,Exact +GARD:0017786,ICD-10,G11.1,NTBT +GARD:0017787,Orphanet,453533,Exact +GARD:0017787,OMIM,616113,Exact +GARD:0017787,ICD-10,E34.8,NTBT +GARD:0017788,Orphanet,454700,Exact +GARD:0017788,ICD-10,A81.0,NTBT +GARD:0017788,OMIM,123400,NTBT +GARD:0017789,Orphanet,454821,Exact +GARD:0017789,ICD-10,D11.0,NTBT +GARD:0017789,OMIM,181030,Exact +GARD:0017790,Orphanet,454840,Exact +GARD:0017790,ICD-10,D12.6,NTBT +GARD:0017790,OMIM,616415,Exact +GARD:0017791,Orphanet,456312,Exact +GARD:0017791,OMIM,616263,Exact +GARD:0017792,Orphanet,456328,Exact +GARD:0017792,OMIM,300219,Exact +GARD:0017793,Orphanet,456369,Exact +GARD:0017793,ICD-10,E74.0,NTBT +GARD:0017793,OMIM,616199,Exact +GARD:0017794,Orphanet,457050,Exact +GARD:0017794,OMIM,616209,Exact +GARD:0017794,ICD-10,G71.3,NTBT +GARD:0017795,Orphanet,457088,Exact +GARD:0017795,OMIM,212050,Exact +GARD:0017795,ICD-10,D84.8,NTBT +GARD:0017796,Orphanet,457185,Exact +GARD:0017796,OMIM,616276,Exact +GARD:0017796,ICD-10,E88.8,NTBT +GARD:0017797,Orphanet,457193,Exact +GARD:0017797,OMIM,616268,Exact +GARD:0017798,Orphanet,457212,Exact +GARD:0017798,ICD-10,F78.1,NTBT +GARD:0017798,OMIM,616269,Exact +GARD:0017799,Orphanet,457223,Exact +GARD:0017799,OMIM,617872,Exact +GARD:0017799,ICD-10,E88.8,NTBT +GARD:0017800,Orphanet,457240,Exact +GARD:0017800,OMIM,300957,Exact +GARD:0017801,Orphanet,457265,Exact +GARD:0017801,OMIM,616540,Exact +GARD:0017801,ICD-10,G40.3,NTBT +GARD:0017802,Orphanet,457279,Exact +GARD:0017802,OMIM,616355,Exact +GARD:0017803,Orphanet,457284,Exact +GARD:0017803,OMIM,616362,Exact +GARD:0017804,Orphanet,457351,Exact +GARD:0017804,OMIM,616577,Exact +GARD:0017805,Orphanet,457359,Exact +GARD:0017805,OMIM,617011,NTBT +GARD:0017806,Orphanet,457375,Exact +GARD:0017806,OMIM,616647,Exact +GARD:0017806,ICD-10,G40.4,NTBT +GARD:0017807,Orphanet,457378,Exact +GARD:0017807,OMIM,616897,Exact +GARD:0017807,ICD-10,Q78.8,NTBT +GARD:0017808,Orphanet,457395,Exact +GARD:0017808,OMIM,616723,Exact +GARD:0017809,Orphanet,457406,Exact +GARD:0017809,OMIM,616370,Exact +GARD:0017809,ICD-10,E88.8,NTBT +GARD:0017810,Orphanet,458798,Exact +GARD:0017810,ICD-10,G11.2,NTBT +GARD:0017810,OMIM,616410,Exact +GARD:0017811,Orphanet,458803,Exact +GARD:0017811,OMIM,616795,Exact +GARD:0017811,ICD-10,G11.8,NTBT +GARD:0017812,Orphanet,459051,Exact +GARD:0017812,OMIM,616583,Exact +GARD:0017812,ICD-10,Q77.7,NTBT +GARD:0017813,Orphanet,459056,Exact +GARD:0017813,ICD-10,G11.4,NTBT +GARD:0017813,OMIM,616680,Exact +GARD:0017814,Orphanet,459061,Exact +GARD:0017814,OMIM,616901,Exact +GARD:0017815,Orphanet,459070,Exact +GARD:0017815,OMIM,300998,NTBT +GARD:0017816,Orphanet,464282,Exact +GARD:0017816,OMIM,616756,Exact +GARD:0017817,Orphanet,464288,Exact +GARD:0017817,OMIM,617157,Exact +GARD:0017818,Orphanet,464366,Exact +GARD:0017818,OMIM,617022,Exact +GARD:0017818,ICD-10,Q77.2,NTBT +GARD:0017819,Orphanet,464440,Exact +GARD:0017819,OMIM,616411,Exact +GARD:0017819,ICD-10,G24.1,NTBT +GARD:0017820,Orphanet,464724,Exact +GARD:0017820,ICD-10,K72.0,NTBT +GARD:0017820,OMIM,616483,Exact +GARD:0017820,OMIM,618641,Exact +GARD:0017821,Orphanet,464738,Exact +GARD:0017821,OMIM,616449,Exact +GARD:0017822,Orphanet,464760,Exact +GARD:0017822,OMIM,611543,Exact +GARD:0017823,Orphanet,465824,Exact +GARD:0017823,OMIM,613630,Exact +GARD:0017824,Orphanet,466688,Exact +GARD:0017824,ICD-10,Q87.0,NTBT +GARD:0017824,OMIM,616819,Exact +GARD:0017825,Orphanet,466703,Exact +GARD:0017825,ICD-10,E77.8,NTBT +GARD:0017825,OMIM,616829,Exact +GARD:0017826,Orphanet,466718,Exact +GARD:0017826,OMIM,617111,Exact +GARD:0017826,ICD-10,H35.5,NTBT +GARD:0017827,Orphanet,466722,Exact +GARD:0017827,OMIM,617046,Exact +GARD:0017827,ICD-10,G11.4,NTBT +GARD:0017828,Orphanet,466729,Exact +GARD:0017828,OMIM,607411,BTNT +GARD:0017828,OMIM,617039,BTNT +GARD:0017828,OMIM,617035,BTNT +GARD:0017829,Orphanet,466768,Exact +GARD:0017829,OMIM,616688,Exact +GARD:0017829,ICD-10,G60.0,NTBT +GARD:0017830,Orphanet,466775,Exact +GARD:0017830,OMIM,616668,Exact +GARD:0017830,ICD-10,G60.0,NTBT +GARD:0017831,Orphanet,466784,Exact +GARD:0017831,OMIM,616794,Exact +GARD:0017831,ICD-10,E88.8,NTBT +GARD:0017832,Orphanet,466791,Exact +GARD:0017832,OMIM,300967,Exact +GARD:0017833,Orphanet,466794,Exact +GARD:0017833,ICD-10,G11.0,NTBT +GARD:0017833,OMIM,616719,Exact +GARD:0017834,Orphanet,466801,Exact +GARD:0017834,ICD-10,G71.0,NTBT +GARD:0017834,OMIM,616827,Exact +GARD:0017835,Orphanet,466806,Exact +GARD:0017835,ICD-10,D69.4,NTBT +GARD:0017835,OMIM,619130,BTNT +GARD:0017835,OMIM,616913,BTNT +GARD:0017836,Orphanet,466926,Exact +GARD:0017836,OMIM,616682,Exact +GARD:0017836,ICD-10,E77.8,NTBT +GARD:0017837,Orphanet,466934,Exact +GARD:0017837,ICD-10,G93.8,NTBT +GARD:0017837,OMIM,616683,Exact +GARD:0017838,Orphanet,466943,Exact +GARD:0017838,OMIM,616708,BTNT +GARD:0017839,Orphanet,466950,Exact +GARD:0017839,OMIM,616708,Exact +GARD:0017840,Orphanet,467176,Exact +GARD:0017840,OMIM,616816,Exact +GARD:0017840,ICD-10,G71.2,NTBT +GARD:0017841,Orphanet,468631,Exact +GARD:0017841,OMIM,614833,Exact +GARD:0017841,ICD-10,Q02,NTBT +GARD:0017842,Orphanet,468661,Exact +GARD:0017842,OMIM,616451,Exact +GARD:0017842,ICD-10,G11.4,NTBT +GARD:0017843,Orphanet,468666,Exact +GARD:0017843,OMIM,106190,Exact +GARD:0017844,Orphanet,468672,Exact +GARD:0017844,OMIM,602499,Exact +GARD:0017845,Orphanet,468684,Exact +GARD:0017845,OMIM,616828,Exact +GARD:0017845,ICD-10,E77.8,NTBT +GARD:0017846,Orphanet,468699,Exact +GARD:0017846,ICD-10,E77.8,NTBT +GARD:0017846,OMIM,616721,Exact +GARD:0017847,Orphanet,476084,Exact +GARD:0017847,OMIM,616812,Exact +GARD:0017847,ICD-10,G71.0,NTBT +GARD:0017848,Orphanet,476102,Exact +GARD:0017848,OMIM,616744,Exact +GARD:0017848,ICD-10,D89.8,NTBT +GARD:0017849,Orphanet,476113,Exact +GARD:0017849,OMIM,616740,Exact +GARD:0017849,ICD-10,D81.8,NTBT +GARD:0017850,Orphanet,476126,Exact +GARD:0017850,OMIM,617061,Exact +GARD:0017851,Orphanet,476394,Exact +GARD:0017851,OMIM,618279,Exact +GARD:0017851,ICD-10,G60.0,NTBT +GARD:0017852,Orphanet,477661,Exact +GARD:0017852,OMIM,615767,Exact +GARD:0017853,Orphanet,477673,Exact +GARD:0017853,OMIM,616281,Exact +GARD:0017853,ICD-10,G11.4,NTBT +GARD:0017854,Orphanet,477684,Exact +GARD:0017854,ICD-10,E88.8,NTBT +GARD:0017854,OMIM,616539,Exact +GARD:0017855,Orphanet,477749,Exact +GARD:0017855,ICD-10,I67.8,NTBT +GARD:0017855,OMIM,618564,Exact +GARD:0017856,Orphanet,477774,Exact +GARD:0017856,ICD-10,E88.8,NTBT +GARD:0017856,OMIM,616672,Exact +GARD:0017857,Orphanet,477787,Exact +GARD:0017857,ICD-10,D69.1,NTBT +GARD:0017857,OMIM,618372,Exact +GARD:0017858,Orphanet,477814,Exact +GARD:0017858,OMIM,616632,Exact +GARD:0017859,Orphanet,477817,Exact +GARD:0017859,OMIM,616652,Exact +GARD:0017860,Orphanet,477831,Exact +GARD:0017860,OMIM,616592,Exact +GARD:0017861,Orphanet,477857,Exact +GARD:0017861,ICD-10,D84.8,NTBT +GARD:0017861,OMIM,616622,Exact +GARD:0017862,Orphanet,477993,Exact +GARD:0017862,OMIM,616728,Exact +GARD:0017863,Orphanet,478029,Exact +GARD:0017863,ICD-10,E88.8,NTBT +GARD:0017863,OMIM,616811,Exact +GARD:0017864,Orphanet,478042,Exact +GARD:0017864,ICD-10,E88.8,NTBT +GARD:0017864,OMIM,616974,Exact +GARD:0017865,Orphanet,478049,Exact +GARD:0017865,ICD-10,E88.8,NTBT +GARD:0017865,OMIM,617228,Exact +GARD:0017866,Orphanet,478664,Exact +GARD:0017866,OMIM,616488,Exact +GARD:0017866,ICD-10,G60.8,NTBT +GARD:0017867,Orphanet,480476,Exact +GARD:0017867,ICD-10,K76.8,NTBT +GARD:0017867,OMIM,617049,Exact +GARD:0017868,Orphanet,480536,Exact +GARD:0017868,OMIM,617100,Exact +GARD:0017869,Orphanet,480682,Exact +GARD:0017869,OMIM,617232,Exact +GARD:0017869,ICD-10,G71.0,NTBT +GARD:0017870,Orphanet,480851,Exact +GARD:0017870,OMIM,616937,Exact +GARD:0017870,ICD-10,D69.4,NTBT +GARD:0017871,Orphanet,480898,Exact +GARD:0017871,OMIM,616875,Exact +GARD:0017872,Orphanet,480907,Exact +GARD:0017872,OMIM,300966,Exact +GARD:0017873,Orphanet,481152,Exact +GARD:0017873,OMIM,616420,Exact +GARD:0017874,Orphanet,481662,Exact +GARD:0017874,OMIM,610448,BTNT +GARD:0017874,OMIM,614415,BTNT +GARD:0017875,Orphanet,481665,Exact +GARD:0017875,ICD-10,Q02,NTBT +GARD:0017875,OMIM,617397,Exact +GARD:0017876,Orphanet,481986,Exact +GARD:0017876,OMIM,269160,NTBT +GARD:0017877,Orphanet,482077,Exact +GARD:0017877,ICD-10,I67.8,NTBT +GARD:0017877,OMIM,616779,Exact +GARD:0017878,Orphanet,482601,Exact +GARD:0017878,ICD-10,G71.0,NTBT +GARD:0017878,OMIM,617030,Exact +GARD:0017879,Orphanet,485275,Exact +GARD:0017879,OMIM,269160,NTBT +GARD:0017880,Orphanet,485350,Exact +GARD:0017880,ICD-10,F78.1,NTBT +GARD:0017880,OMIM,300114,Exact +GARD:0017881,Orphanet,485421,Exact +GARD:0017881,ICD-10,E88.8,NTBT +GARD:0017881,OMIM,617086,Exact +GARD:0017882,Orphanet,486811,Exact +GARD:0017882,OMIM,616866,BTNT +GARD:0017882,OMIM,616867,BTNT +GARD:0017883,Orphanet,486815,Exact +GARD:0017883,OMIM,617066,Exact +GARD:0017883,ICD-10,G71.0,NTBT +GARD:0017884,Orphanet,487796,Exact +GARD:0017884,OMIM,616737,Exact +GARD:0017884,ICD-10,Q87.8,NTBT +GARD:0017885,Orphanet,487825,Exact +GARD:0017885,OMIM,602342,Exact +GARD:0017886,Orphanet,488168,Exact +GARD:0017886,ICD-10,E88.8,NTBT +GARD:0017886,OMIM,616834,Exact +GARD:0017887,Orphanet,488191,Exact +GARD:0017887,OMIM,617743,BTNT +GARD:0017887,ICD-10,N97.8,NTBT +GARD:0017887,OMIM,619176,BTNT +GARD:0017887,OMIM,616780,BTNT +GARD:0017887,OMIM,619009,BTNT +GARD:0017887,OMIM,619011,BTNT +GARD:0017888,Orphanet,488197,Exact +GARD:0017888,ICD-10,Q13.8,NTBT +GARD:0017888,OMIM,616722,Exact +GARD:0017889,Orphanet,488232,Exact +GARD:0017889,OMIM,616890,Exact +GARD:0017890,Orphanet,488280,Exact +GARD:0017890,OMIM,616604,Exact +GARD:0017890,ICD-10,D47.1,NTBT +GARD:0017891,Orphanet,488333,Exact +GARD:0017891,ICD-10,G60.0,NTBT +GARD:0017891,OMIM,616625,Exact +GARD:0017892,Orphanet,488594,Exact +GARD:0017892,OMIM,616907,Exact +GARD:0017892,ICD-10,G11.4,NTBT +GARD:0017893,Orphanet,488613,Exact +GARD:0017893,OMIM,616973,BTNT +GARD:0017893,ICD-10,F84.8,NTBT +GARD:0017894,Orphanet,488618,Exact +GARD:0017894,ICD-10,E88.8,NTBT +GARD:0017894,OMIM,617044,Exact +GARD:0017895,Orphanet,488627,Exact +GARD:0017895,OMIM,617051,Exact +GARD:0017896,Orphanet,488632,Exact +GARD:0017896,OMIM,616900,Exact +GARD:0017897,Orphanet,488635,Exact +GARD:0017897,OMIM,616917,BTNT +GARD:0017897,ICD-10,E77.8,NTBT +GARD:0017898,Orphanet,488642,Exact +GARD:0017898,OMIM,616954,Exact +GARD:0017899,Orphanet,488647,Exact +GARD:0017899,ICD-10,C96.7,NTBT +GARD:0017899,OMIM,616871,Exact +GARD:0017900,Orphanet,488650,Exact +GARD:0017900,OMIM,614321,Exact +GARD:0017900,ICD-10,G71.0,NTBT +GARD:0017901,Orphanet,493348,Exact +GARD:0017901,OMIM,125630,NTBT +GARD:0017902,Orphanet,494344,Exact +GARD:0017902,OMIM,616975,NTBT +GARD:0017903,Orphanet,494439,Exact +GARD:0017903,OMIM,617763,Exact +GARD:0017904,Orphanet,494444,Exact +GARD:0017904,OMIM,124900,Exact +GARD:0017904,ICD-10,H90.3,NTBT +GARD:0017905,Orphanet,494526,Exact +GARD:0017905,OMIM,616921,Exact +GARD:0017905,ICD-10,G24.8,NTBT +GARD:0017906,Orphanet,494541,Exact +GARD:0017906,OMIM,616922,Exact +GARD:0017906,ICD-10,G25.5,NTBT +GARD:0017907,Orphanet,494547,Exact +GARD:0017907,ICD-11,2B6D.0,Exact +GARD:0017907,ICD-10,C12,BTNT +GARD:0017907,ICD-10,C13.8,BTNT +GARD:0017907,OMIM,275355,NTBT +GARD:0017907,ICD-10,C13.2,BTNT +GARD:0017907,ICD-10,C13.0,BTNT +GARD:0017908,Orphanet,494550,Exact +GARD:0017908,OMIM,275355,NTBT +GARD:0017908,ICD-10,C32.8,NTBT +GARD:0017909,Orphanet,495274,Exact +GARD:0017909,OMIM,617017,NTBT +GARD:0017909,ICD-10,G60.0,NTBT +GARD:0017910,Orphanet,495844,Exact +GARD:0017910,OMIM,616881,Exact +GARD:0017910,ICD-10,G93.8,NTBT +GARD:0017911,Orphanet,496641,Exact +GARD:0017911,OMIM,617193,Exact +GARD:0017912,Orphanet,496686,Exact +GARD:0017912,ICD-10,G71.2,NTBT +GARD:0017912,OMIM,617114,Exact +GARD:0017913,Orphanet,496751,Exact +GARD:0017913,OMIM,616854,Exact +GARD:0017914,Orphanet,496756,Exact +GARD:0017914,OMIM,617207,Exact +GARD:0017914,ICD-10,G31.8,NTBT +GARD:0017915,Orphanet,496790,Exact +GARD:0017915,OMIM,617183,Exact +GARD:0017915,ICD-10,E88.8,NTBT +GARD:0017916,Orphanet,497757,Exact +GARD:0017916,OMIM,617017,NTBT +GARD:0017917,Orphanet,497764,Exact +GARD:0017917,ICD-10,G11.2,NTBT +GARD:0017917,OMIM,617017,NTBT +GARD:0017918,Orphanet,497906,Exact +GARD:0017918,ICD-10,G31.8,NTBT +GARD:0017918,OMIM,617054,Exact +GARD:0017919,Orphanet,498497,Exact +GARD:0017919,OMIM,614091,Exact +GARD:0017920,Orphanet,500055,Exact +GARD:0017920,OMIM,616863,Exact +GARD:0017921,Orphanet,500095,Exact +GARD:0017921,OMIM,617107,Exact +GARD:0017922,Orphanet,500135,Exact +GARD:0017922,OMIM,236500,Exact +GARD:0017923,Orphanet,500144,Exact +GARD:0017923,OMIM,617669,Exact +GARD:0017923,ICD-10,Q07.8,NTBT +GARD:0017924,Orphanet,500159,Exact +GARD:0017924,OMIM,617751,Exact +GARD:0017925,Orphanet,500166,Exact +GARD:0017925,OMIM,613406,NTBT +GARD:0017926,Orphanet,500188,Exact +GARD:0017926,ICD-10,H91.8,NTBT +GARD:0017926,OMIM,301018,Exact +GARD:0017927,Orphanet,500464,Exact +GARD:0017927,OMIM,275355,NTBT +GARD:0017927,ICD-10,D02.3,NTBT +GARD:0017928,Orphanet,500478,Exact +GARD:0017928,ICD-11,2B6A.0,Exact +GARD:0017928,OMIM,275355,NTBT +GARD:0017928,ICD-10,C10.8,NTBT +GARD:0017929,Orphanet,500481,Exact +GARD:0017929,OMIM,275355,NTBT +GARD:0017929,ICD-10,C06.9,BTNT +GARD:0017929,ICD-10,C07,BTNT +GARD:0017929,ICD-10,C08.8,BTNT +GARD:0017930,Orphanet,500545,Exact +GARD:0017930,ICD-10,F84.8,NTBT +GARD:0017930,OMIM,617393,Exact +GARD:0017931,Orphanet,500548,Exact +GARD:0017931,OMIM,615198,NTBT +GARD:0017932,Orphanet,502363,Exact +GARD:0017932,ICD-10,C06.9,NTBT +GARD:0017932,OMIM,275355,NTBT +GARD:0017933,Orphanet,502366,Exact +GARD:0017933,ICD-10,C00.1,NTBT +GARD:0017933,OMIM,275355,NTBT +GARD:0017933,ICD-11,2B60.1,Exact +GARD:0017934,Orphanet,502423,Exact +GARD:0017934,OMIM,617675,Exact +GARD:0017934,ICD-10,G71.3,NTBT +GARD:0017935,Orphanet,502434,Exact +GARD:0017935,OMIM,617635,Exact +GARD:0017936,Orphanet,502444,Exact +GARD:0017936,ICD-10,E75.2,NTBT +GARD:0017936,OMIM,617762,Exact +GARD:0017937,Orphanet,504476,Exact +GARD:0017937,OMIM,614575,Exact +GARD:0017937,ICD-10,G11.2,NTBT +GARD:0017938,Orphanet,504523,Exact +GARD:0017938,ICD-10,D81.2,NTBT +GARD:0017938,OMIM,617514,Exact +GARD:0017939,Orphanet,504530,Exact +GARD:0017939,OMIM,300988,Exact +GARD:0017939,ICD-10,D81.8,NTBT +GARD:0017940,Orphanet,505216,Exact +GARD:0017940,OMIM,617698,Exact +GARD:0017940,ICD-10,E71.1,NTBT +GARD:0017941,Orphanet,505227,Exact +GARD:0017941,ICD-10,D81.8,NTBT +GARD:0017941,OMIM,617827,Exact +GARD:0017942,Orphanet,505237,Exact +GARD:0017942,OMIM,617452,Exact +GARD:0017943,Orphanet,505242,Exact +GARD:0017943,OMIM,617595,Exact +GARD:0017943,ICD-10,E83.2,NTBT +GARD:0017944,Orphanet,505248,Exact +GARD:0017944,OMIM,617303,Exact +GARD:0017945,Orphanet,506307,Exact +GARD:0017945,ICD-10,Q13.8,NTBT +GARD:0017945,OMIM,243605,Exact +GARD:0017946,Orphanet,506353,Exact +GARD:0017946,ICD-10,G11.4,NTBT +GARD:0017946,OMIM,618768,Exact +GARD:0017947,Orphanet,506358,Exact +GARD:0017947,OMIM,617557,Exact +GARD:0017948,Orphanet,508498,Exact +GARD:0017948,OMIM,615583,NTBT +GARD:0017949,Orphanet,508512,Exact +GARD:0017949,OMIM,618097,BTNT +GARD:0017950,Orphanet,508523,Exact +GARD:0017950,OMIM,617384,Exact +GARD:0017950,ICD-10,E70.1,NTBT +GARD:0017951,Orphanet,508529,Exact +GARD:0017951,OMIM,617294,Exact +GARD:0017952,Orphanet,513436,Exact +GARD:0017952,ICD-10,G11.4,NTBT +GARD:0017952,OMIM,617225,Exact +GARD:0017953,Orphanet,513456,Exact +GARD:0017953,OMIM,617616,Exact +GARD:0017954,Orphanet,519388,Exact +GARD:0017954,OMIM,617319,Exact +GARD:0017954,ICD-10,Q13.8,NTBT +GARD:0017955,Orphanet,521258,Exact +GARD:0017955,OMIM,300979,Exact +GARD:0017956,Orphanet,521305,Exact +GARD:0017956,ICD-10,G72.8,NTBT +GARD:0017956,OMIM,600706,Exact +GARD:0017957,Orphanet,521390,Exact +GARD:0017957,ICD-10,G11.4,NTBT +GARD:0017957,OMIM,617296,Exact +GARD:0017958,Orphanet,521406,Exact +GARD:0017958,OMIM,617013,Exact +GARD:0017958,ICD-10,E83.8,NTBT +GARD:0017959,Orphanet,521414,Exact +GARD:0017959,OMIM,618036,Exact +GARD:0017959,ICD-10,G60.0,NTBT +GARD:0017960,Orphanet,521426,Exact +GARD:0017960,OMIM,617527,Exact +GARD:0017961,Orphanet,521438,Exact +GARD:0017961,OMIM,617660,Exact +GARD:0017961,OMIM,617661,Exact +GARD:0017961,OMIM,618845,BTNT +GARD:0017962,Orphanet,522077,Exact +GARD:0017962,ICD-10,F84.8,NTBT +GARD:0017962,OMIM,618218,Exact +GARD:0017963,Orphanet,527450,Exact +GARD:0017963,OMIM,617662,Exact +GARD:0017964,Orphanet,527497,Exact +GARD:0017964,ICD-10,E75.2,NTBT +GARD:0017964,OMIM,617560,Exact +GARD:0017965,Orphanet,528084,Exact +GARD:0017965,OMIM,618906,BTNT +GARD:0017965,OMIM,619072,BTNT +GARD:0017965,OMIM,618430,BTNT +GARD:0017965,OMIM,619264,BTNT +GARD:0017965,OMIM,618342,BTNT +GARD:0017965,OMIM,619083,BTNT +GARD:0017965,OMIM,618914,BTNT +GARD:0017965,OMIM,619092,BTNT +GARD:0017965,OMIM,619125,BTNT +GARD:0017965,OMIM,606053,BTNT +GARD:0017965,OMIM,618971,BTNT +GARD:0017965,OMIM,619244,BTNT +GARD:0017965,OMIM,619091,BTNT +GARD:0017965,OMIM,618569,BTNT +GARD:0017965,OMIM,619149,BTNT +GARD:0017965,OMIM,619099,BTNT +GARD:0017965,OMIM,619314,BTNT +GARD:0017965,OMIM,301029,BTNT +GARD:0017965,OMIM,618659,BTNT +GARD:0017965,OMIM,619005,BTNT +GARD:0017965,OMIM,619320,BTNT +GARD:0017965,OMIM,619056,BTNT +GARD:0017965,OMIM,619239,BTNT +GARD:0017965,OMIM,619000,BTNT +GARD:0017965,OMIM,619243,BTNT +GARD:0017965,OMIM,619157,BTNT +GARD:0017965,OMIM,619306,BTNT +GARD:0017965,OMIM,619031,BTNT +GARD:0017965,OMIM,618292,BTNT +GARD:0017965,OMIM,617755,BTNT +GARD:0017965,OMIM,619076,BTNT +GARD:0017965,OMIM,618470,BTNT +GARD:0017965,ICD-10,F84.8,NTBT +GARD:0017965,OMIM,618009,BTNT +GARD:0017965,OMIM,619268,BTNT +GARD:0017965,OMIM,309590,BTNT +GARD:0017965,OMIM,618922,BTNT +GARD:0017965,OMIM,618974,BTNT +GARD:0017965,OMIM,618653,BTNT +GARD:0017966,Orphanet,528091,Exact +GARD:0017966,ICD-10,E88.8,NTBT +GARD:0017966,OMIM,617021,Exact +GARD:0017967,Orphanet,528105,Exact +GARD:0017967,ICD-10,N25.8,NTBT +GARD:0017967,OMIM,617671,Exact +GARD:0017968,Orphanet,529574,Exact +GARD:0017968,ICD-10,H50.8,NTBT +GARD:0017968,OMIM,617041,NTBT +GARD:0017969,Orphanet,529665,Exact +GARD:0017969,OMIM,617810,Exact +GARD:0017970,Orphanet,529965,Exact +GARD:0017970,OMIM,617682,Exact +GARD:0017971,Orphanet,529970,Exact +GARD:0017971,ICD-10,N46,NTBT +GARD:0017971,OMIM,618112,Exact +GARD:0017971,OMIM,617187,Exact +GARD:0017972,Orphanet,530995,Exact +GARD:0017972,ICD-10,C95.0,NTBT +GARD:0017972,MeSH,D015456,BTNT +GARD:0017972,OMIM,601626,NTBT +GARD:0017972,MedDRA,10067399,BTNT +GARD:0017973,Orphanet,535458,Exact +GARD:0017973,ICD-10,E78.3,NTBT +GARD:0017973,OMIM,615947,Exact +GARD:0017974,Orphanet,536467,Exact +GARD:0017974,ICD-10,Q79.6,NTBT +GARD:0017974,OMIM,615349,Exact +GARD:0017975,Orphanet,536532,Exact +GARD:0017975,ICD-10,Q79.6,NTBT +GARD:0017975,OMIM,618000,Exact +GARD:0017976,Orphanet,538096,Exact +GARD:0017976,ICD-10,G60.0,NTBT +GARD:0017976,OMIM,604431,Exact +GARD:0017977,Orphanet,538574,Exact +GARD:0017977,OMIM,148360,Exact +GARD:0017977,ICD-10,G60.0,NTBT +GARD:0017978,Orphanet,538958,Exact +GARD:0017978,ICD-10,D82.3,NTBT +GARD:0017978,OMIM,618261,Exact +GARD:0017979,Orphanet,538963,Exact +GARD:0017979,ICD-10,D82.3,NTBT +GARD:0017979,OMIM,613011,Exact +GARD:0017980,Orphanet,541423,Exact +GARD:0017980,OMIM,617093,Exact +GARD:0017980,ICD-10,F78.8,NTBT +GARD:0017981,Orphanet,542301,Exact +GARD:0017981,OMIM,618131,Exact +GARD:0017981,ICD-10,D82.3,NTBT +GARD:0017982,Orphanet,542306,Exact +GARD:0017982,OMIM,617173,Exact +GARD:0017982,ICD-10,I49.8,NTBT +GARD:0017983,Orphanet,542585,Exact +GARD:0017983,ICD-10,E88.8,NTBT +GARD:0017983,OMIM,617717,Exact +GARD:0017984,Orphanet,542657,Exact +GARD:0017984,OMIM,143860,Exact +GARD:0017985,Orphanet,544469,Exact +GARD:0017985,ICD-10,Q07.8,NTBT +GARD:0017985,OMIM,617481,Exact +GARD:0017986,Orphanet,544472,Exact +GARD:0017986,OMIM,612922,BTNT +GARD:0017986,OMIM,612923,BTNT +GARD:0017986,OMIM,235400,BTNT +GARD:0017986,OMIM,609814,BTNT +GARD:0017986,ICD-10,D58.8,NTBT +GARD:0017986,OMIM,612926,BTNT +GARD:0017986,OMIM,612925,BTNT +GARD:0017986,OMIM,615008,BTNT +GARD:0017986,OMIM,612924,BTNT +GARD:0017987,Orphanet,544488,Exact +GARD:0017987,ICD-10,E72.4,NTBT +GARD:0017987,OMIM,619075,Exact +GARD:0017988,Orphanet,544503,Exact +GARD:0017988,ICD-10,G40.4,NTBT +GARD:0017988,OMIM,618379,Exact +GARD:0017989,Orphanet,544602,Exact +GARD:0017989,ICD-10,G71.2,NTBT +GARD:0017989,OMIM,618414,Exact +GARD:0017990,Orphanet,555402,Exact +GARD:0017990,ICD-10,E88.8,NTBT +GARD:0017990,OMIM,618321,Exact +GARD:0017991,Orphanet,555407,Exact +GARD:0017991,ICD-10,E88.8,NTBT +GARD:0017991,OMIM,617186,Exact +GARD:0017992,Orphanet,556955,Exact +GARD:0017992,ICD-10,Q04.2,BTNT +GARD:0017992,OMIM,618500,NTBT +GARD:0017993,Orphanet,557003,Exact +GARD:0017993,ICD-10,Q87.8,NTBT +GARD:0017993,OMIM,618440,Exact +GARD:0017994,Orphanet,557064,Exact +GARD:0017994,OMIM,618328,Exact +GARD:0017994,ICD-10,E88.8,NTBT +GARD:0017995,Orphanet,562509,Exact +GARD:0017995,ICD-10,E88.8,NTBT +GARD:0017995,OMIM,614034,Exact +GARD:0017996,Orphanet,562538,Exact +GARD:0017996,OMIM,618148,Exact +GARD:0017996,ICD-10,E88.8,NTBT +GARD:0017997,Orphanet,562559,Exact +GARD:0017997,OMIM,613671,Exact +GARD:0017997,ICD-10,F72.8,NTBT +GARD:0017998,Orphanet,562569,Exact +GARD:0017998,ICD-10,Q87.8,NTBT +GARD:0017998,OMIM,618316,Exact +GARD:0017999,Orphanet,565624,Exact +GARD:0017999,OMIM,618397,Exact +GARD:0017999,ICD-10,E88.8,NTBT +GARD:0018000,Orphanet,565788,Exact +GARD:0018000,OMIM,618213,Exact +GARD:0018001,Orphanet,565858,Exact +GARD:0018001,OMIM,618265,Exact +GARD:0018001,ICD-10,Q87.8,NTBT +GARD:0018002,Orphanet,566243,Exact +GARD:0018002,OMIM,145650,Exact +GARD:0018002,ICD-10,E07.8,NTBT +GARD:0018002,OMIM,188570,NTBT +GARD:0018002,OMIM,274300,NTBT +GARD:0018003,Orphanet,567548,Exact +GARD:0018003,OMIM,619263,Exact +GARD:0018003,ICD-10,N04.8,NTBT +GARD:0018004,Orphanet,569290,Exact +GARD:0018004,OMIM,617954,Exact +GARD:0018004,ICD-10,E88.8,NTBT +GARD:0018005,Orphanet,570422,Exact +GARD:0018005,OMIM,618881,Exact +GARD:0018005,ICD-10,E88.8,NTBT +GARD:0018006,Orphanet,570491,Exact +GARD:0018006,OMIM,618835,Exact +GARD:0018006,ICD-10,E88.8,NTBT +GARD:0018007,Orphanet,572013,Exact +GARD:0018007,OMIM,618325,Exact +GARD:0018008,Orphanet,572354,Exact +GARD:0018008,OMIM,110100,NTBT +GARD:0018009,Orphanet,572385,Exact +GARD:0018009,OMIM,113000,Exact +GARD:0018010,Orphanet,572543,Exact +GARD:0018010,ICD-10,G12.1,NTBT +GARD:0018010,OMIM,211530,Exact +GARD:0018011,Orphanet,572768,Exact +GARD:0018011,OMIM,251230,Exact +GARD:0018012,Orphanet,572798,Exact +GARD:0018012,ICD-10,E88.8,NTBT +GARD:0018012,OMIM,617710,Exact +GARD:0018013,Orphanet,576283,Exact +GARD:0018013,OMIM,612313,NTBT +GARD:0018014,Orphanet,576349,Exact +GARD:0018014,ICD-10,D89.8,NTBT +GARD:0018014,OMIM,616115,Exact +GARD:0018015,Orphanet,580940,Exact +GARD:0018015,OMIM,617982,Exact +GARD:0018016,Orphanet,589435,Exact +GARD:0018016,OMIM,618961,Exact +GARD:0018017,Orphanet,597733,Exact +GARD:0018017,OMIM,619165,Exact +GARD:0018018,Orphanet,597874,Exact +GARD:0018018,OMIM,618367,Exact +GARD:0018019,Orphanet,598603,Exact +GARD:0018019,OMIM,618381,Exact +GARD:0018020,Orphanet,603448,Exact +GARD:0018020,OMIM,619273,Exact +GARD:0018021,Orphanet,603494,Exact +GARD:0018021,OMIM,617306,Exact +GARD:0018022,Orphanet,610569,Exact +GARD:0018022,OMIM,617822,Exact +GARD:0018023,Orphanet,610573,Exact +GARD:0018023,OMIM,619173,Exact +GARD:0018024,Orphanet,611201,Exact +GARD:0018024,OMIM,619318,Exact +GARD:0018025,Orphanet,611207,Exact +GARD:0018025,OMIM,619260,Exact +GARD:0018026,Orphanet,611216,Exact +GARD:0018026,OMIM,619151,Exact +GARD:0018027,Orphanet,611223,Exact +GARD:0018027,OMIM,619218,BTNT +GARD:0018027,OMIM,619217,BTNT +GARD:0018028,Orphanet,611237,Exact +GARD:0018028,OMIM,619279,Exact +GARD:0018029,Orphanet,611247,Exact +GARD:0018029,OMIM,617695,Exact +GARD:0018030,Orphanet,611256,Exact +GARD:0018030,OMIM,618266,Exact +GARD:0018031,Orphanet,613267,Exact +GARD:0018031,OMIM,618606,Exact +GARD:0018032,Orphanet,613274,Exact +GARD:0018032,OMIM,619301,BTNT +GARD:0018032,OMIM,619302,BTNT +GARD:0018033,Orphanet,615938,Exact +GARD:0018033,OMIM,619338,Exact +GARD:0018033,UMLS,C5543440,Exact +GARD:0018034,Orphanet,615954,Exact +GARD:0018034,UMLS,C5394137,Exact +GARD:0018034,OMIM,618810,Exact +GARD:0018035,Orphanet,615964,Exact +GARD:0018035,UMLS,C5193068,Exact +GARD:0018035,OMIM,618384,Exact +GARD:0018036,Orphanet,615983,Exact +GARD:0018036,OMIM,618810,NTBT +GARD:0018037,Orphanet,615986,Exact +GARD:0018037,OMIM,618810,NTBT +GARD:0018038,OMIM,606721,Exact +GARD:0018038,UMLS,C3807567,NA +GARD:0018039,OMIM,233300,Exact +GARD:0018039,GeneticAlliance,3151,NA +GARD:0018039,DiseaseOntology,80493,NA +GARD:0018039,UMLS,C0949595,NA +GARD:0018040,OMIM,300510,Exact +GARD:0018040,GeneticAlliance,9060,NA +GARD:0018040,UMLS,C1845295,NA +GARD:0018040,DiseaseOntology,804,NA +GARD:0018040,UMLS,C1845294,NA +GARD:0018040,DiseaseOntology,940,NA +GARD:0018040,DiseaseOntology,861,NA +GARD:0018040,DiseaseOntology,080,NA +GARD:0018041,OMIM,614324,Exact +GARD:0018041,DiseaseOntology,80495,NA +GARD:0018041,GeneticAlliance,9061,NA +GARD:0018041,UMLS,C3280471,NA +GARD:0018042,OMIM,618078,Exact +GARD:0018042,DiseaseOntology,80498,NA +GARD:0018042,UMLS,C4748084,NA +GARD:0018043,OMIM,618117,Exact +GARD:0018043,UMLS,C4748263,NA +GARD:0018043,DiseaseOntology,80499,NA +GARD:0018044,OMIM,618723,Exact +GARD:0018044,DiseaseOntology,80873,NA +GARD:0018044,UMLS,C5231474,NA +GARD:0018045,OMIM,123100,Exact +GARD:0018045,UMLS,C0010278,NA +GARD:0018045,DiseaseOntology,2340,NA +GARD:0018045,ICD-10-CM,Q75.0,NA +GARD:0018045,UMLS,C4551902,NA +GARD:0018045,SNOMED-CT,57219006,NA +GARD:0018045,GeneticAlliance,8111,NA +GARD:0018046,OMIM,615529,Exact +GARD:0018046,UMLS,C3809819,NA +GARD:0018047,OMIM,615314,Exact +GARD:0018047,UMLS,C3715051,NA +GARD:0018047,DiseaseOntology,2340,NA +GARD:0018048,OMIM,616602,Exact +GARD:0018048,UMLS,C4225269,NA +GARD:0018049,OMIM,121400,Exact +GARD:0018049,UMLS,C1852557,NA +GARD:0018049,DiseaseOntology,60287,NA +GARD:0018050,OMIM,217300,Exact +GARD:0018050,UMLS,C1857574,NA +GARD:0018050,DiseaseOntology,60287,NA +GARD:0018050,GeneticAlliance,8084,NA +GARD:0018051,OMIM,168500,Exact +GARD:0018051,GeneticAlliance,9076,NA +GARD:0018051,SNOMED-CT,718099006,NA +GARD:0018051,DiseaseOntology,60285,NA +GARD:0018051,UMLS,C1868599,NA +GARD:0018051,UMLS,C1868598,NA +GARD:0018052,OMIM,609566,Exact +GARD:0018052,DiseaseOntology,60285,NA +GARD:0018052,UMLS,C1835980,NA +GARD:0018053,OMIM,609597,Exact +GARD:0018053,GeneticAlliance,9077,NA +GARD:0018053,UMLS,C1865044,NA +GARD:0018053,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina,NA +GARD:0018053,DiseaseOntology,60285,NA +GARD:0018054,OMIM,211400,Exact +GARD:0018054,UMLS,C2749757,NA +GARD:0018054,DiseaseOntology,563,NA +GARD:0018054,GeneticAlliance,7870,NA +GARD:0018054,DiseaseOntology,805,NA +GARD:0018054,DiseaseOntology,269,NA +GARD:0018055,OMIM,613021,Exact +GARD:0018055,DiseaseOntology,805,NA +GARD:0018055,DiseaseOntology,279,NA +GARD:0018055,UMLS,C2751666,NA +GARD:0018055,GeneticAlliance,7871,NA +GARD:0018055,DiseaseOntology,563,NA +GARD:0018056,OMIM,613071,Exact +GARD:0018056,DiseaseOntology,805,NA +GARD:0018056,UMLS,C2751324,NA +GARD:0018056,DiseaseOntology,289,NA +GARD:0018056,GeneticAlliance,7872,NA +GARD:0018056,DiseaseOntology,563,NA +GARD:0018057,OMIM,600131,Exact +GARD:0018057,UMLS,C1838604,NA +GARD:0018058,OMIM,607681,Exact +GARD:0018058,UMLS,C1969810,NA +GARD:0018058,UMLS,C1843244,NA +GARD:0018058,GeneticAlliance,8323,NA +GARD:0018058,UMLS,C1858674,NA +GARD:0018058,DiseaseOntology,111298,NA +GARD:0018059,OMIM,611136,Exact +GARD:0018059,GeneticAlliance,8330,NA +GARD:0018059,UMLS,C2749942,NA +GARD:0018059,UMLS,C4013473,NA +GARD:0018059,DiseaseOntology,111314,NA +GARD:0018059,UMLS,C1970160,NA +GARD:0018060,OMIM,611942,Exact +GARD:0018060,GeneticAlliance,8325,NA +GARD:0018060,UMLS,C2749872,NA +GARD:0018060,UMLS,C2677793,NA +GARD:0018061,OMIM,612269,Exact +GARD:0018061,GeneticAlliance,8324,NA +GARD:0018061,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy,NA +GARD:0018061,UMLS,C2677087,NA +GARD:0018062,OMIM,602032,Exact +GARD:0018062,GeneticAlliance,8289,NA +GARD:0018062,DiseaseOntology,111658,NA +GARD:0018062,UMLS,C1865951,NA +GARD:0018063,OMIM,614927,Exact +GARD:0018063,DiseaseOntology,111657,NA +GARD:0018063,UMLS,C3554108,NA +GARD:0018064,OMIM,614928,Exact +GARD:0018064,UMLS,C3554111,NA +GARD:0018064,DiseaseOntology,111659,NA +GARD:0018065,OMIM,614929,Exact +GARD:0018065,DiseaseOntology,111660,NA +GARD:0018065,UMLS,C3554117,NA +GARD:0018066,OMIM,614931,Exact +GARD:0018066,UMLS,C3554127,NA +GARD:0018066,DiseaseOntology,111656,NA +GARD:0018067,OMIM,618252,Exact +GARD:0018067,UMLS,C4748839,NA +GARD:0018067,DiseaseOntology,112080,NA +GARD:0018068,OMIM,605432,Exact +GARD:0018068,UMLS,C1854273,NA +GARD:0018068,UMLS,C4551975,NA +GARD:0018068,GeneticAlliance,9206,NA +GARD:0018069,OMIM,616738,Exact +GARD:0018069,UMLS,C4225221,NA +GARD:0018070,OMIM,115210,Exact +GARD:0018070,DiseaseOntology,111,NA +GARD:0018070,GeneticAlliance,8407,NA +GARD:0018070,DiseaseOntology,397,NA +GARD:0018070,UMLS,C1861861,NA +GARD:0018070,DiseaseOntology,425,NA +GARD:0018071,OMIM,609578,Exact +GARD:0018071,DiseaseOntology,111426,NA +GARD:0018071,UMLS,C1865071,NA +GARD:0018072,OMIM,612422,Exact +GARD:0018072,GeneticAlliance,8408,NA +GARD:0018072,UMLS,C2676271,NA +GARD:0018072,DiseaseOntology,111427,NA +GARD:0018072,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-restrictive-cardiomyopathy,NA +GARD:0018073,OMIM,145250,Exact +GARD:0018073,UMLS,C1840392,NA +GARD:0018073,DiseaseOntology,111373,NA +GARD:0018073,SNOMED-CT,715630006,NA +GARD:0018073,GeneticAlliance,8601,NA +GARD:0018074,OMIM,614233,Exact +GARD:0018074,UMLS,C2681535,NA +GARD:0018075,OMIM,143470,Exact +GARD:0018075,GeneticAlliance,8574,NA +GARD:0018075,DiseaseOntology,111369,NA +GARD:0018075,UMLS,C3149462,NA +GARD:0018076,OMIM,614028,Exact +GARD:0018076,DiseaseOntology,111370,NA +GARD:0018076,GeneticAlliance,8575,NA +GARD:0018076,UMLS,C3151467,NA +GARD:0018077,OMIM,603387,Exact +GARD:0018077,UMLS,C4012727,NA +GARD:0018077,UMLS,C1863924,NA +GARD:0018078,OMIM,615937,Exact +GARD:0018078,UMLS,C4014738,NA +GARD:0018079,OMIM,615938,Exact +GARD:0018079,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/megalencephaly-polymicrogyria-polydactyly-hydrocephalus-syndrome,NA +GARD:0018079,UMLS,C4014742,NA +GARD:0018080,OMIM,613550,Exact +GARD:0018080,DiseaseOntology,111118,NA +GARD:0018080,UMLS,C3150796,NA +GARD:0018080,GeneticAlliance,8979,NA +GARD:0018081,OMIM,616217,Exact +GARD:0018081,UMLS,C4015542,NA +GARD:0018081,DiseaseOntology,111126,NA +GARD:0018082,OMIM,601068,Exact +GARD:0018082,UMLS,C1832841,NA +GARD:0018082,DiseaseOntology,111690,NA +GARD:0018083,OMIM,607876,Exact +GARD:0018083,DiseaseOntology,111692,NA +GARD:0018083,UMLS,C1842852,NA +GARD:0018084,OMIM,613608,Exact +GARD:0018084,UMLS,C3150860,NA +GARD:0018084,DiseaseOntology,111695,NA +GARD:0018085,OMIM,615127,Exact +GARD:0018085,UMLS,C3554560,NA +GARD:0018085,DiseaseOntology,111693,NA +GARD:0018086,OMIM,615400,Exact +GARD:0018086,DiseaseOntology,111691,NA +GARD:0018086,UMLS,C3809374,NA +GARD:0018087,OMIM,607694,Exact +GARD:0018087,SNOMED-CT,721846006,NA +GARD:0018087,GeneticAlliance,4200,NA +GARD:0018087,UMLS,C2676243,NA +GARD:0018087,DiseaseOntology,60794,NA +GARD:0018088,OMIM,616494,Exact +GARD:0018088,DiseaseOntology,60792,NA +GARD:0018088,UMLS,C4225305,NA +GARD:0018089,OMIM,618660,Exact +GARD:0018089,UMLS,C5231513,NA +GARD:0018090,OMIM,618667,Exact +GARD:0018090,UMLS,C5231454,NA +GARD:0018091,OMIM,601152,Exact +GARD:0018091,DiseaseOntology,80068,NA +GARD:0018091,UMLS,C0393807,NA +GARD:0018091,SNOMED-CT,128203003,NA +GARD:0018091,GeneticAlliance,8523,NA +GARD:0018092,OMIM,616505,Exact +GARD:0018092,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease,NA +GARD:0018092,DiseaseOntology,80068,NA +GARD:0018092,UMLS,C4225302,NA +GARD:0018093,OMIM,146520,Exact +GARD:0018093,SNOMED-CT,717256009,NA +GARD:0018093,GeneticAlliance,8627,NA +GARD:0018093,UMLS,C1840299,NA +GARD:0018093,DiseaseOntology,110699,NA +GARD:0018094,OMIM,613981,Exact +GARD:0018094,DiseaseOntology,110700,NA +GARD:0018094,UMLS,C3151432,NA +GARD:0018094,GeneticAlliance,8628,NA +GARD:0018095,OMIM,300030,Exact +GARD:0018095,UMLS,C3888089,NA +GARD:0018095,DiseaseOntology,111736,NA +GARD:0018096,OMIM,300066,Exact +GARD:0018096,UMLS,C1848204,NA +GARD:0018096,GeneticAlliance,8196,NA +GARD:0018096,DiseaseOntology,111735,NA +GARD:0018097,OMIM,300914,Exact +GARD:0018097,UMLS,C3806737,NA +GARD:0018097,DiseaseOntology,111740,NA +GARD:0018098,OMIM,304500,Exact +GARD:0018098,GeneticAlliance,8195,NA +GARD:0018098,UMLS,C1844677,NA +GARD:0018098,DiseaseOntology,111739,NA +GARD:0018099,OMIM,600101,Exact +GARD:0018099,DiseaseOntology,110558,NA +GARD:0018099,GeneticAlliance,8212,NA +GARD:0018099,UMLS,C2677637,NA +GARD:0018100,OMIM,600652,Exact +GARD:0018100,DiseaseOntology,110573,NA +GARD:0018100,UMLS,C1833503,NA +GARD:0018100,GeneticAlliance,8146,NA +GARD:0018101,OMIM,600965,Exact +GARD:0018101,DiseaseOntology,110584,NA +GARD:0018101,GeneticAlliance,9476,NA +GARD:0018101,UMLS,C1833021,NA +GARD:0018102,OMIM,600994,Exact +GARD:0018102,GeneticAlliance,8150,NA +GARD:0018102,DiseaseOntology,110575,NA +GARD:0018102,UMLS,C1832932,NA +GARD:0018103,OMIM,601316,Exact +GARD:0018103,DiseaseOntology,110542,NA +GARD:0018103,GeneticAlliance,8131,NA +GARD:0018103,UMLS,C1832476,NA +GARD:0018104,OMIM,601317,Exact +GARD:0018104,DiseaseOntology,110543,NA +GARD:0018104,GeneticAlliance,8132,NA +GARD:0018104,UMLS,C1832475,NA +GARD:0018105,OMIM,601369,Exact +GARD:0018105,GeneticAlliance,8153,NA +GARD:0018105,DiseaseOntology,110593,NA +GARD:0018105,UMLS,C1832425,NA +GARD:0018106,OMIM,601412,Exact +GARD:0018106,DiseaseOntology,110591,NA +GARD:0018106,UMLS,C1832379,NA +GARD:0018107,OMIM,601543,Exact +GARD:0018107,GeneticAlliance,8133,NA +GARD:0018107,UMLS,C1832187,NA +GARD:0018107,DiseaseOntology,110544,NA +GARD:0018108,OMIM,601868,Exact +GARD:0018108,UMLS,C1866095,NA +GARD:0018108,GeneticAlliance,8134,NA +GARD:0018108,DiseaseOntology,110545,NA +GARD:0018109,OMIM,602459,Exact +GARD:0018109,UMLS,C1865366,NA +GARD:0018109,DiseaseOntology,110546,NA +GARD:0018109,GeneticAlliance,8135,NA +GARD:0018110,OMIM,603964,Exact +GARD:0018110,UMLS,C1858916,NA +GARD:0018110,DiseaseOntology,110547,NA +GARD:0018111,OMIM,604717,Exact +GARD:0018111,GeneticAlliance,8136,NA +GARD:0018111,DiseaseOntology,110550,NA +GARD:0018111,UMLS,C1858172,NA +GARD:0018112,OMIM,605583,Exact +GARD:0018112,DiseaseOntology,110555,NA +GARD:0018112,GeneticAlliance,8139,NA +GARD:0018112,UMLS,C1854158,NA +GARD:0018113,OMIM,606012,Exact +GARD:0018113,UMLS,C1853760,NA +GARD:0018113,DiseaseOntology,110549,NA +GARD:0018114,OMIM,606451,Exact +GARD:0018114,UMLS,C1847972,NA +GARD:0018114,DiseaseOntology,110560,NA +GARD:0018115,OMIM,606705,Exact +GARD:0018115,UMLS,C1847626,NA +GARD:0018115,GeneticAlliance,8142,NA +GARD:0018115,DiseaseOntology,110563,NA +GARD:0018116,OMIM,607017,Exact +GARD:0018116,DiseaseOntology,110551,NA +GARD:0018116,UMLS,C1846922,NA +GARD:0018117,OMIM,607197,Exact +GARD:0018117,UMLS,C1846647,NA +GARD:0018117,DiseaseOntology,50565,NA +GARD:0018118,OMIM,607453,Exact +GARD:0018118,GeneticAlliance,8147,NA +GARD:0018118,DiseaseOntology,110569,NA +GARD:0018118,UMLS,C1843895,NA +GARD:0018119,OMIM,607683,Exact +GARD:0018119,DiseaseOntology,110578,NA +GARD:0018119,UMLS,C1843232,NA +GARD:0018120,OMIM,607841,Exact +GARD:0018120,UMLS,C1842939,NA +GARD:0018120,DiseaseOntology,110571,NA +GARD:0018120,GeneticAlliance,8148,NA +GARD:0018121,OMIM,608224,Exact +GARD:0018121,DiseaseOntology,110567,NA +GARD:0018121,UMLS,C1842371,NA +GARD:0018122,OMIM,608372,Exact +GARD:0018122,DiseaseOntology,110572,NA +GARD:0018122,UMLS,C1842136,NA +GARD:0018123,OMIM,608394,Exact +GARD:0018123,DiseaseOntology,110568,NA +GARD:0018123,UMLS,C1842108,NA +GARD:0018124,OMIM,608641,Exact +GARD:0018124,GeneticAlliance,8140,NA +GARD:0018124,DiseaseOntology,110557,NA +GARD:0018124,UMLS,C1837640,NA +GARD:0018125,OMIM,608645,Exact +GARD:0018125,DiseaseOntology,110561,NA +GARD:0018125,UMLS,C1837617,NA +GARD:0018126,OMIM,608652,Exact +GARD:0018126,UMLS,C1837609,NA +GARD:0018126,DiseaseOntology,110570,NA +GARD:0018127,OMIM,609129,Exact +GARD:0018127,UMLS,C1836743,NA +GARD:0018127,DiseaseOntology,60690,NA +GARD:0018127,GeneticAlliance,7760,NA +GARD:0018128,OMIM,612431,Exact +GARD:0018128,DiseaseOntology,110556,NA +GARD:0018128,UMLS,C3887929,NA +GARD:0018129,OMIM,612642,Exact +GARD:0018129,DiseaseOntology,110583,NA +GARD:0018129,UMLS,C2675238,NA +GARD:0018130,OMIM,612643,Exact +GARD:0018130,DiseaseOntology,110565,NA +GARD:0018130,UMLS,C2675237,NA +GARD:0018130,GeneticAlliance,8145,NA +GARD:0018131,OMIM,612644,Exact +GARD:0018131,UMLS,C2675236,NA +GARD:0018131,DiseaseOntology,110559,NA +GARD:0018131,GeneticAlliance,8141,NA +GARD:0018132,OMIM,613074,Exact +GARD:0018132,GeneticAlliance,8151,NA +GARD:0018132,UMLS,C3888123,NA +GARD:0018132,DiseaseOntology,110576,NA +GARD:0018133,OMIM,613558,Exact +GARD:0018133,UMLS,C3160736,NA +GARD:0018133,DiseaseOntology,110577,NA +GARD:0018134,OMIM,614152,Exact +GARD:0018134,GeneticAlliance,8152,NA +GARD:0018134,DiseaseOntology,110585,NA +GARD:0018134,UMLS,C3279948,NA +GARD:0018135,OMIM,614211,Exact +GARD:0018135,DiseaseOntology,110562,NA +GARD:0018135,UMLS,C3887930,NA +GARD:0018136,OMIM,614614,Exact +GARD:0018136,DiseaseOntology,110574,NA +GARD:0018136,GeneticAlliance,8149,NA +GARD:0018136,UMLS,C3281297,NA +GARD:0018137,OMIM,615629,Exact +GARD:0018137,UMLS,C3810170,NA +GARD:0018137,DiseaseOntology,110581,NA +GARD:0018138,OMIM,615649,Exact +GARD:0018138,UMLS,C3888029,NA +GARD:0018138,DiseaseOntology,110580,NA +GARD:0018139,OMIM,615654,Exact +GARD:0018139,DiseaseOntology,110582,NA +GARD:0018139,UMLS,C3888210,NA +GARD:0018140,OMIM,616044,Exact +GARD:0018140,DiseaseOntology,110586,NA +GARD:0018140,UMLS,C3892048,NA +GARD:0018141,OMIM,616340,Exact +GARD:0018141,UMLS,C4084712,NA +GARD:0018141,DiseaseOntology,110588,NA +GARD:0018142,OMIM,616357,Exact +GARD:0018142,DiseaseOntology,110566,NA +GARD:0018142,UMLS,C4084708,NA +GARD:0018143,OMIM,616697,Exact +GARD:0018143,UMLS,C4225241,NA +GARD:0018143,DiseaseOntology,110590,NA +GARD:0018144,OMIM,616707,Exact +GARD:0018144,DiseaseOntology,110589,NA +GARD:0018144,UMLS,C4225240,NA +GARD:0018145,OMIM,616968,Exact +GARD:0018145,DiseaseOntology,110592,NA +GARD:0018145,UMLS,C4310775,NA +GARD:0018146,OMIM,616969,Exact +GARD:0018146,UMLS,C4283893,NA +GARD:0018146,DiseaseOntology,110587,NA +GARD:0018147,OMIM,617605,Exact +GARD:0018147,DiseaseOntology,80267,NA +GARD:0018147,UMLS,C4539881,NA +GARD:0018148,OMIM,617606,Exact +GARD:0018148,DiseaseOntology,80268,NA +GARD:0018148,UMLS,C4539886,NA +GARD:0018149,OMIM,617663,Exact +GARD:0018149,DiseaseOntology,80269,NA +GARD:0018149,UMLS,C4540024,NA +GARD:0018150,OMIM,618094,Exact +GARD:0018150,DiseaseOntology,111644,NA +GARD:0018150,UMLS,C4748162,NA +GARD:0018151,OMIM,618140,Exact +GARD:0018151,UMLS,C4748334,NA +GARD:0018151,DiseaseOntology,112165,NA +GARD:0018152,OMIM,618410,Exact +GARD:0018152,UMLS,C5193079,NA +GARD:0018152,DiseaseOntology,111636,NA +GARD:0018153,OMIM,618778,Exact +GARD:0018153,UMLS,C5394059,NA +GARD:0018153,DiseaseOntology,112166,NA +GARD:0018154,OMIM,618787,Exact +GARD:0018154,UMLS,C5394080,NA +GARD:0018154,DiseaseOntology,112167,NA +GARD:0018155,OMIM,618915,Exact +GARD:0018155,UMLS,C5394499,NA +GARD:0018155,DiseaseOntology,112168,NA +GARD:0018156,OMIM,619081,Exact +GARD:0018156,DiseaseOntology,112159,NA +GARD:0018156,UMLS,C5436768,NA +GARD:0018157,OMIM,619086,Exact +GARD:0018157,UMLS,C5436772,NA +GARD:0018157,DiseaseOntology,112160,NA +GARD:0018158,OMIM,619274,Exact +GARD:0018158,UMLS,C5543289,NA +GARD:0018159,OMIM,221745,Exact +GARD:0018159,UMLS,C1857332,NA +GARD:0018159,DiseaseOntology,111752,NA +GARD:0018160,OMIM,500008,Exact +GARD:0018160,GeneticAlliance,2157,NA +GARD:0018160,UMLS,C3151897,NA +GARD:0018160,DiseaseOntology,111751,NA +GARD:0018161,OMIM,580000,Exact +GARD:0018161,GeneticAlliance,8129,NA +GARD:0018161,UMLS,C1838854,NA +GARD:0018161,DiseaseOntology,111734,NA +GARD:0018162,OMIM,178300,Exact +GARD:0018162,DiseaseOntology,60261,NA 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+GARD:0018169,SNOMED-CT,72831007,NA +GARD:0018169,UMLS,C3536983,NA +GARD:0018170,OMIM,600785,Exact +GARD:0018170,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets,NA +GARD:0018170,UMLS,C2748783,NA +GARD:0018170,DiseaseOntology,80885,NA +GARD:0018171,OMIM,619073,Exact +GARD:0018171,UMLS,C5436733,NA +GARD:0018172,OMIM,263450,Exact +GARD:0018172,UMLS,C3550661,NA +GARD:0018173,OMIM,602085,Exact +GARD:0018173,UMLS,C1865883,NA +GARD:0018174,OMIM,607324,Exact +GARD:0018174,UMLS,C1846452,NA +GARD:0018175,OMIM,608562,Exact +GARD:0018175,UMLS,C1837868,NA +GARD:0018176,OMIM,615226,Exact +GARD:0018176,UMLS,C3808889,NA +GARD:0018177,OMIM,618219,Exact +GARD:0018177,UMLS,C4748721,NA +GARD:0018178,OMIM,618498,Exact +GARD:0018178,UMLS,C5193129,NA +GARD:0018179,OMIM,604387,Exact +GARD:0018179,GeneticAlliance,7636,NA +GARD:0018179,SNOMED-CT,444749006,NA +GARD:0018179,DiseaseOntology,111114,NA +GARD:0018179,UMLS,C1858392,NA +GARD:0018180,OMIM,613159,Exact 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+GARD:0018188,OMIM,274400,Exact +GARD:0018188,GeneticAlliance,9401,NA +GARD:0018188,DiseaseOntology,112185,NA +GARD:0018188,UMLS,C1848805,NA +GARD:0018189,OMIM,274500,Exact +GARD:0018189,UMLS,C1291299,NA +GARD:0018189,GeneticAlliance,8201,NA +GARD:0018189,SNOMED-CT,124204003,NA +GARD:0018189,DiseaseOntology,112186,NA +GARD:0018190,OMIM,274700,Exact +GARD:0018190,SNOMED-CT,23536000,NA +GARD:0018190,GeneticAlliance,8681,NA +GARD:0018190,UMLS,C0342194,NA +GARD:0018190,DiseaseOntology,112187,NA +GARD:0018191,OMIM,274800,Exact +GARD:0018191,UMLS,C0342195,NA +GARD:0018191,DiseaseOntology,112188,NA +GARD:0018191,SNOMED-CT,17885001,NA +GARD:0018191,GeneticAlliance,8680,NA +GARD:0018192,OMIM,274900,Exact +GARD:0018192,UMLS,C0342196,NA +GARD:0018192,SNOMED-CT,63127008,NA +GARD:0018192,GeneticAlliance,9400,NA +GARD:0018192,DiseaseOntology,112184,NA +GARD:0018193,OMIM,607200,Exact +GARD:0018193,GeneticAlliance,9402,NA +GARD:0018193,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/congenital-hypothyroidism,NA +GARD:0018193,UMLS,C1846632,NA +GARD:0018193,DiseaseOntology,112189,NA +GARD:0018194,OMIM,619126,Exact +GARD:0018194,UMLS,C5436860,NA +GARD:0018195,OMIM,277450,Exact +GARD:0018195,GeneticAlliance,9455,NA +GARD:0018195,UMLS,C1848534,NA +GARD:0018195,DiseaseOntology,112173,NA +GARD:0018196,OMIM,607473,Exact +GARD:0018196,UMLS,C1843832,NA +GARD:0018196,GeneticAlliance,9456,NA +GARD:0018196,DiseaseOntology,112174,NA +GARD:0018197,OMIM,614292,Exact +GARD:0018197,UMLS,C3280346,NA +GARD:0018197,GeneticAlliance,8963,NA +GARD:0018198,OMIM,615431,Exact +GARD:0018198,DiseaseOntology,11830,NA +GARD:0018198,UMLS,C3809482,NA +GARD:0018199,OMIM,616289,Exact +GARD:0018199,DiseaseOntology,111442,NA +GARD:0018199,UMLS,C4225384,NA +GARD:0018200,OMIM,616732,Exact +GARD:0018200,DiseaseOntology,111434,NA +GARD:0018200,UMLS,C4225227,NA +GARD:0018201,OMIM,617302,Exact +GARD:0018201,DiseaseOntology,111436,NA +GARD:0018201,UMLS,C4310628,NA +GARD:0018202,OMIM,604364,Exact +GARD:0018202,UMLS,C1858477,NA +GARD:0018202,SNOMED-CT,764522009,NA +GARD:0018202,UMLS,C4551983,NA +GARD:0018203,OMIM,617116,Exact +GARD:0018203,UMLS,C4310709,NA +GARD:0018204,OMIM,617118,Exact +GARD:0018204,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-focal-epilepsy-with-variable-foci,NA +GARD:0018204,UMLS,C4310708,NA +GARD:0018205,OMIM,263000,Exact +GARD:0018205,ICD-10-CM,J84.115,NA +GARD:0018205,SNOMED-CT,8549006,NA +GARD:0018205,DiseaseOntology,50158,NA +GARD:0018205,ICD-10-CM,J84.117,NA +GARD:0018205,UMLS,C0238378,NA +GARD:0018206,OMIM,612998,Exact +GARD:0018206,GeneticAlliance,8305,NA +GARD:0018206,DiseaseOntology,70249,NA +GARD:0018206,UMLS,C2751807,NA +GARD:0018207,OMIM,612999,Exact +GARD:0018207,GeneticAlliance,8306,NA +GARD:0018207,UMLS,C2751805,NA +GARD:0018207,DiseaseOntology,70250,NA +GARD:0018208,OMIM,614302,Exact 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+GARD:0018212,DiseaseOntology,110855,NA +GARD:0018212,GeneticAlliance,9131,NA +GARD:0018212,SNOMED-CT,29504002,NA +GARD:0018213,OMIM,609140,Exact +GARD:0018213,DiseaseOntology,110856,NA +GARD:0018213,GeneticAlliance,8087,NA +GARD:0018213,UMLS,C1852795,NA +GARD:0018214,OMIM,609141,Exact +GARD:0018214,GeneticAlliance,8088,NA +GARD:0018214,DiseaseOntology,110857,NA +GARD:0018214,UMLS,C1836724,NA +GARD:0018215,OMIM,618031,Exact +GARD:0018215,UMLS,C4747961,NA +GARD:0018215,DiseaseOntology,80669,NA +GARD:0018216,OMIM,136800,Exact +GARD:0018216,GeneticAlliance,1908,NA +GARD:0018216,UMLS,C1850959,NA +GARD:0018216,DiseaseOntology,11555,NA +GARD:0018217,OMIM,610158,Exact +GARD:0018217,DiseaseOntology,11555,NA +GARD:0018217,UMLS,C1857800,NA +GARD:0018218,OMIM,613267,Exact +GARD:0018218,UMLS,C2750451,NA +GARD:0018218,DiseaseOntology,11555,NA +GARD:0018219,OMIM,613268,Exact +GARD:0018219,UMLS,C2750450,NA +GARD:0018219,DiseaseOntology,11555,NA +GARD:0018219,GeneticAlliance,8085,NA +GARD:0018220,OMIM,613269,Exact +GARD:0018220,DiseaseOntology,11555,NA +GARD:0018220,UMLS,C2750449,NA +GARD:0018221,OMIM,613270,Exact +GARD:0018221,DiseaseOntology,11555,NA +GARD:0018221,GeneticAlliance,8086,NA +GARD:0018221,UMLS,C2750448,NA +GARD:0018222,OMIM,613271,Exact +GARD:0018222,DiseaseOntology,11555,NA +GARD:0018222,UMLS,C2750447,NA +GARD:0018223,OMIM,615523,Exact +GARD:0018223,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/fuchs-endothelial-dystrophy,NA +GARD:0018223,UMLS,C3809798,NA +GARD:0018223,DiseaseOntology,11555,NA +GARD:0018224,OMIM,231300,Exact +GARD:0018224,SNOMED-CT,204113001,NA +GARD:0018224,SNOMED-CT,413728006,NA +GARD:0018224,UMLS,C1856439,NA +GARD:0018224,GeneticAlliance,3070,NA +GARD:0018224,ICD-10-CM,Q15.0,NA +GARD:0018224,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/early-onset-glaucoma,NA +GARD:0018224,UMLS,C0020302,NA +GARD:0018224,UMLS,C4551507,NA +GARD:0018224,DiseaseOntology,11211,NA +GARD:0018225,OMIM,613085,Exact +GARD:0018225,UMLS,C3888011,NA +GARD:0018225,DiseaseOntology,50593,NA +GARD:0018226,OMIM,613086,Exact +GARD:0018226,GeneticAlliance,8466,NA +GARD:0018226,UMLS,C2751316,NA +GARD:0018226,DiseaseOntology,50593,NA +GARD:0018227,OMIM,617272,Exact +GARD:0018227,UMLS,C4310639,NA +GARD:0018228,OMIM,608695,Exact +GARD:0018228,UMLS,C1837528,NA +GARD:0018228,DiseaseOntology,1067,NA +GARD:0018229,OMIM,608696,Exact +GARD:0018229,DiseaseOntology,1067,NA +GARD:0018229,UMLS,C1837527,NA +GARD:0018230,OMIM,610535,Exact +GARD:0018230,UMLS,C1864653,NA +GARD:0018230,DiseaseOntology,1067,NA +GARD:0018231,OMIM,611274,Exact +GARD:0018231,UMLS,C1969812,NA +GARD:0018231,DiseaseOntology,1067,NA +GARD:0018232,OMIM,605728,Exact +GARD:0018232,DiseaseOntology,110254,NA +GARD:0018232,UMLS,C1854021,NA +GARD:0018233,OMIM,115800,Exact +GARD:0018233,UMLS,C3805409,NA +GARD:0018233,DiseaseOntology,110232,NA +GARD:0018234,OMIM,116400,Exact +GARD:0018234,UMLS,C3805412,NA +GARD:0018234,DiseaseOntology,110241,NA +GARD:0018235,OMIM,607304,Exact +GARD:0018235,DiseaseOntology,110233,NA +GARD:0018235,UMLS,C1846520,NA +GARD:0018236,OMIM,611391,Exact +GARD:0018236,UMLS,C3808107,NA +GARD:0018236,DiseaseOntology,110264,NA +GARD:0018236,GeneticAlliance,7920,NA +GARD:0018237,OMIM,169150,Exact +GARD:0018237,GeneticAlliance,5630,NA +GARD:0018237,UMLS,C4551999,NA +GARD:0018237,DiseaseOntology,60866,NA +GARD:0018237,UMLS,C1868569,NA +GARD:0018238,OMIM,608970,Exact +GARD:0018238,DiseaseOntology,60864,NA +GARD:0018238,UMLS,C1837029,NA +GARD:0018239,OMIM,179840,Exact +GARD:0018239,SNOMED-CT,723502001,NA +GARD:0018239,UMLS,C1867332,NA +GARD:0018240,OMIM,267800,Exact +GARD:0018240,UMLS,C1849407,NA +GARD:0018241,OMIM,617175,Exact +GARD:0018241,UMLS,C4310680,NA +GARD:0018242,OMIM,271950,Exact +GARD:0018242,UMLS,C1848979,NA +GARD:0018243,OMIM,119570,Exact +GARD:0018243,ICD-10-CM,Q35.3,NA +GARD:0018243,DiseaseOntology,110214,NA +GARD:0018243,SNOMED-CT,253997002,NA +GARD:0018243,UMLS,C0432098,NA +GARD:0018244,OMIM,106600,Exact +GARD:0018244,GeneticAlliance,9411,NA +GARD:0018244,DiseaseOntology,50591,NA +GARD:0018244,UMLS,C3489529,NA +GARD:0018245,OMIM,150400,Exact +GARD:0018245,UMLS,C1835492,NA +GARD:0018245,UMLS,C1835493,NA +GARD:0018245,GeneticAlliance,9413,NA +GARD:0018245,DiseaseOntology,50591,NA +GARD:0018246,OMIM,313500,Exact +GARD:0018246,DiseaseOntology,50591,NA +GARD:0018246,UMLS,C1970757,NA +GARD:0018246,GeneticAlliance,9415,NA +GARD:0018247,OMIM,604625,Exact +GARD:0018247,GeneticAlliance,9412,NA +GARD:0018247,DiseaseOntology,50591,NA +GARD:0018247,UMLS,C1970291,NA +GARD:0018248,OMIM,610926,Exact +GARD:0018248,UMLS,C1858210,NA +GARD:0018248,DiseaseOntology,50591,NA +GARD:0018249,OMIM,616724,Exact +GARD:0018249,UMLS,C4225231,NA +GARD:0018250,OMIM,617073,Exact +GARD:0018250,UMLS,C4310730,NA +GARD:0018251,OMIM,268200,Exact +GARD:0018251,GeneticAlliance,8944,NA +GARD:0018251,UMLS,C1849386,NA +GARD:0018251,DiseaseOntology,80108,NA +GARD:0018252,OMIM,615889,Exact +GARD:0018252,UMLS,C4014588,NA +GARD:0018253,OMIM,145000,Exact +GARD:0018253,DiseaseOntology,13543,NA +GARD:0018253,UMLS,C1840402,NA +GARD:0018253,UMLS,C4551961,NA +GARD:0018253,SNOMED-CT,786037006,NA +GARD:0018253,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-isolated-hyperparathyroidism,NA +GARD:0018254,OMIM,600166,Exact +GARD:0018254,UMLS,C1838501,NA +GARD:0018254,DiseaseOntology,11202,NA +GARD:0018255,OMIM,610071,Exact +GARD:0018255,UMLS,C1864729,NA +GARD:0018255,DiseaseOntology,13543,NA +GARD:0018256,OMIM,617343,Exact +GARD:0018256,UMLS,C4479229,NA +GARD:0018257,OMIM,618883,Exact +GARD:0018257,UMLS,C5394383,NA +GARD:0018258,OMIM,617607,Exact +GARD:0018258,DiseaseOntology,80243,NA +GARD:0018258,UMLS,C4539891,NA +GARD:0018259,OMIM,300909,Exact +GARD:0018259,UMLS,C3806711,NA +GARD:0018260,OMIM,270420,Exact +GARD:0018260,GeneticAlliance,8079,NA +GARD:0018260,UMLS,C2678346,NA +GARD:0018260,UMLS,C5441927,NA +GARD:0018260,DiseaseOntology,60781,NA 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+GARD:0018267,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-v,NA +GARD:0018268,OMIM,619112,Exact +GARD:0018268,UMLS,C5436838,NA +GARD:0018269,OMIM,158580,Exact +GARD:0018269,UMLS,C1834703,NA +GARD:0018269,DiseaseOntology,111201,NA +GARD:0018270,OMIM,607641,Exact +GARD:0018270,DiseaseOntology,111202,NA +GARD:0018270,UMLS,C1843315,NA +GARD:0018270,GeneticAlliance,"56,859,641",NA +GARD:0018271,OMIM,613112,Exact +GARD:0018271,UMLS,C2751259,NA +GARD:0018271,GeneticAlliance,8776,NA +GARD:0018271,DiseaseOntology,90102,NA +GARD:0018272,OMIM,615193,Exact +GARD:0018272,UMLS,C3554663,NA +GARD:0018272,DiseaseOntology,111053,NA +GARD:0018273,OMIM,619271,Exact +GARD:0018273,UMLS,C5543280,NA +GARD:0018274,OMIM,108760,Exact +GARD:0018274,UMLS,C3276095,NA +GARD:0018275,OMIM,607842,Exact +GARD:0018275,UMLS,C1842937,NA +GARD:0018275,GeneticAlliance,7761,NA +GARD:0018276,OMIM,610069,Exact +GARD:0018276,DiseaseOntology,111686,NA +GARD:0018276,GeneticAlliance,8522,NA +GARD:0018276,UMLS,C1864730,NA +GARD:0018277,OMIM,610313,Exact +GARD:0018277,UMLS,C1853198,NA +GARD:0018277,DiseaseOntology,80330,NA +GARD:0018277,GeneticAlliance,8001,NA +GARD:0018278,OMIM,617055,Exact +GARD:0018278,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/cold-induced-sweating-syndrome,NA +GARD:0018278,DiseaseOntology,80331,NA +GARD:0018278,UMLS,C4310742,NA +GARD:0018279,OMIM,611630,Exact +GARD:0018279,DiseaseOntology,60750,NA +GARD:0018279,UMLS,C1968848,NA +GARD:0018280,OMIM,614417,Exact +GARD:0018280,GeneticAlliance,8326,NA +GARD:0018280,DiseaseOntology,60752,NA +GARD:0018280,UMLS,C3280730,NA +GARD:0018281,OMIM,615697,Exact +GARD:0018281,UMLS,C3810320,NA +GARD:0018281,DiseaseOntology,60749,NA +GARD:0018282,OMIM,300643,Exact +GARD:0018282,UMLS,C1845070,NA +GARD:0018282,GeneticAlliance,9519,NA +GARD:0018283,OMIM,614418,Exact +GARD:0018283,DiseaseOntology,111308,NA +GARD:0018283,UMLS,C3280734,NA +GARD:0018283,GeneticAlliance,8424,NA +GARD:0018284,OMIM,163800,Exact +GARD:0018284,GeneticAlliance,9300,NA +GARD:0018284,UMLS,C1834144,NA +GARD:0018284,DiseaseOntology,13884,NA +GARD:0018285,OMIM,614090,Exact +GARD:0018285,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/sick-sinus-syndrome,NA +GARD:0018285,GeneticAlliance,9301,NA +GARD:0018285,UMLS,C3279791,NA +GARD:0018286,OMIM,613339,Exact +GARD:0018286,UMLS,C0393729,NA +GARD:0018286,SNOMED-CT,230454005,NA +GARD:0018286,UMLS,C4551550,NA +GARD:0018287,OMIM,613340,Exact +GARD:0018287,UMLS,C3150536,NA +GARD:0018288,OMIM,273900,Exact +GARD:0018288,UMLS,C2678311,NA +GARD:0018288,DiseaseOntology,1588,NA +GARD:0018289,OMIM,612004,Exact +GARD:0018289,DiseaseOntology,1588,NA +GARD:0018289,UMLS,C2677608,NA +GARD:0018290,OMIM,610102,Exact +GARD:0018290,DiseaseOntology,60300,NA +GARD:0018290,GeneticAlliance,8029,NA +GARD:0018290,UMLS,C1864694,NA +GARD:0018291,OMIM,612446,Exact +GARD:0018291,DiseaseOntology,60299,NA +GARD:0018291,GeneticAlliance,8028,NA +GARD:0018291,UMLS,C2676232,NA +GARD:0018292,OMIM,613825,Exact +GARD:0018292,DiseaseOntology,60303,NA +GARD:0018292,GeneticAlliance,8030,NA +GARD:0018292,UMLS,C3151189,NA +GARD:0018293,OMIM,608971,Exact +GARD:0018293,DiseaseOntology,90014,NA +GARD:0018293,GeneticAlliance,9288,NA +GARD:0018293,UMLS,C1837028,NA +GARD:0018294,OMIM,610163,Exact +GARD:0018294,DiseaseOntology,111942,NA +GARD:0018294,UMLS,C1857798,NA +GARD:0018294,GeneticAlliance,8643,NA +GARD:0018295,OMIM,615615,Exact +GARD:0018295,DiseaseOntology,111971,NA +GARD:0018295,UMLS,C3810127,NA +GARD:0018296,OMIM,615617,Exact +GARD:0018296,UMLS,C3810147,NA +GARD:0018296,DiseaseOntology,111972,NA +GARD:0018297,OMIM,613658,Exact +GARD:0018297,UMLS,C5436276,NA +GARD:0018297,UMLS,C3150910,NA +GARD:0018297,SNOMED-CT,720576001,NA +GARD:0018298,OMIM,619013,Exact +GARD:0018298,UMLS,C5436603,NA +GARD:0018299,OMIM,608203,Exact +GARD:0018299,GeneticAlliance,9007,NA +GARD:0018299,UMLS,C1842398,NA +GARD:0018299,SNOMED-CT,723443003,NA +GARD:0018299,DiseaseOntology,112064,NA +GARD:0018300,OMIM,618987,Exact +GARD:0018300,DiseaseOntology,112062,NA +GARD:0018300,UMLS,C5436550,NA +GARD:0018301,OMIM,115300,Exact +GARD:0018301,DiseaseOntology,9969,NA +GARD:0018301,GeneticAlliance,8579,NA +GARD:0018301,UMLS,C2676023,NA +GARD:0018302,OMIM,277350,Exact +GARD:0018302,UMLS,C2678266,NA +GARD:0018303,OMIM,600625,Exact +GARD:0018303,UMLS,C1833563,NA +GARD:0018303,UMLS,C2677434,NA +GARD:0018303,DiseaseOntology,80404,NA +GARD:0018303,GeneticAlliance,9042,NA +GARD:0018304,OMIM,608864,Exact +GARD:0018304,UMLS,C1837213,NA +GARD:0018304,DiseaseOntology,80593,NA +GARD:0018304,GeneticAlliance,9044,NA +GARD:0018305,OMIM,608874,Exact +GARD:0018305,GeneticAlliance,9043,NA +GARD:0018305,UMLS,C1837210,NA +GARD:0018305,DiseaseOntology,80399,NA +GARD:0018306,OMIM,613705,Exact +GARD:0018306,UMLS,C1866070,NA +GARD:0018306,GeneticAlliance,9041,NA +GARD:0018306,DiseaseOntology,80403,NA +GARD:0018307,OMIM,616788,Exact +GARD:0018307,UMLS,C4225209,NA +GARD:0018307,DiseaseOntology,80408,NA +GARD:0018308,OMIM,618149,Exact +GARD:0018308,UMLS,C1851878,NA +GARD:0018308,DiseaseOntology,80401,NA +GARD:0018309,OMIM,612900,Exact +GARD:0018309,DiseaseOntology,10970,NA +GARD:0018309,UMLS,C2752061,NA +GARD:0018309,GeneticAlliance,7941,NA +GARD:0018310,OMIM,617008,Exact +GARD:0018310,UMLS,C4310767,NA +GARD:0018311,OMIM,245590,Exact +GARD:0018311,GeneticAlliance,3194,NA +GARD:0018311,UMLS,C1855548,NA +GARD:0018311,DiseaseOntology,80836,NA +GARD:0018311,UMLS,C5435698,NA +GARD:0018312,OMIM,618985,Exact +GARD:0018312,UMLS,C5436546,NA +GARD:0018312,DiseaseOntology,80837,NA +GARD:0018313,OMIM,603284,Exact +GARD:0018313,UMLS,C1864041,NA +GARD:0018313,GeneticAlliance,7938,NA +GARD:0018313,DiseaseOntology,60670,NA +GARD:0018314,OMIM,603285,Exact +GARD:0018314,GeneticAlliance,7939,NA +GARD:0018314,DiseaseOntology,60671,NA +GARD:0018314,UMLS,C1864040,NA +GARD:0018315,OMIM,500003,Exact +GARD:0018315,UMLS,C1839022,NA +GARD:0018315,DiseaseOntology,4751,NA +GARD:0018315,GeneticAlliance,9362,NA +GARD:0018316,OMIM,619115,Exact +GARD:0018316,UMLS,C5436842,NA +GARD:0018317,OMIM,619120,Exact +GARD:0018317,UMLS,C5436847,NA +GARD:0018318,OMIM,609322,Exact +GARD:0018318,UMLS,C0206743,NA +GARD:0018318,UMLS,C1836327,NA +GARD:0018318,SNOMED-CT,83118000,NA +GARD:0018318,SNOMED-CT,1156418001,NA +GARD:0018318,DiseaseOntology,2129,NA +GARD:0018318,GeneticAlliance,9251,NA +GARD:0018319,OMIM,613325,Exact +GARD:0018319,GeneticAlliance,9252,NA +GARD:0018319,UMLS,C2750074,NA +GARD:0018319,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome,NA +GARD:0018320,OMIM,105800,Exact +GARD:0018320,DiseaseOntology,80964,NA +GARD:0018320,UMLS,C1862932,NA +GARD:0018321,OMIM,300870,Exact +GARD:0018321,DiseaseOntology,80968,NA +GARD:0018321,UMLS,C1835857,NA +GARD:0018322,OMIM,609122,Exact +GARD:0018322,UMLS,C1836757,NA +GARD:0018322,DiseaseOntology,80966,NA +GARD:0018323,OMIM,610213,Exact +GARD:0018323,UMLS,C1857749,NA +GARD:0018323,DiseaseOntology,80967,NA +GARD:0018324,OMIM,611892,Exact +GARD:0018324,DiseaseOntology,80969,NA +GARD:0018324,UMLS,C2678469,NA +GARD:0018325,OMIM,612161,Exact +GARD:0018325,DiseaseOntology,80970,NA +GARD:0018325,UMLS,C2677337,NA +GARD:0018326,OMIM,612162,Exact +GARD:0018326,UMLS,C2677336,NA +GARD:0018326,DiseaseOntology,80971,NA +GARD:0018327,OMIM,612586,Exact +GARD:0018327,UMLS,C2675485,NA +GARD:0018327,DiseaseOntology,80972,NA +GARD:0018328,OMIM,612587,Exact +GARD:0018328,UMLS,C2675484,NA +GARD:0018328,DiseaseOntology,80973,NA +GARD:0018329,OMIM,614252,Exact +GARD:0018329,DiseaseOntology,80974,NA +GARD:0018329,UMLS,C3280275,NA +GARD:0018330,OMIM,618734,Exact +GARD:0018330,DiseaseOntology,80975,NA +GARD:0018330,UMLS,C5231484,NA +GARD:0018331,OMIM,203300,Exact +GARD:0018331,GeneticAlliance,8536,NA +GARD:0018331,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome,NA +GARD:0018331,DiseaseOntology,60539,NA +GARD:0018331,UMLS,C2931875,NA +GARD:0018332,OMIM,614073,Exact +GARD:0018332,GeneticAlliance,8538,NA +GARD:0018332,UMLS,C3484357,NA +GARD:0018332,DiseaseOntology,60542,NA +GARD:0018333,OMIM,614072,Exact +GARD:0018333,GeneticAlliance,8537,NA +GARD:0018333,DiseaseOntology,60541,NA +GARD:0018333,UMLS,C3888001,NA +GARD:0018334,OMIM,614074,Exact +GARD:0018334,UMLS,C3888004,NA +GARD:0018334,GeneticAlliance,8539,NA +GARD:0018334,DiseaseOntology,60543,NA +GARD:0018335,OMIM,614075,Exact +GARD:0018335,UMLS,C3888007,NA +GARD:0018335,DiseaseOntology,60544,NA +GARD:0018335,GeneticAlliance,8540,NA +GARD:0018336,OMIM,614076,Exact +GARD:0018336,UMLS,C3279756,NA +GARD:0018336,DiseaseOntology,60545,NA +GARD:0018336,GeneticAlliance,8541,NA +GARD:0018337,OMIM,614077,Exact +GARD:0018337,UMLS,C3888026,NA +GARD:0018337,DiseaseOntology,60546,NA +GARD:0018337,GeneticAlliance,8542,NA +GARD:0018338,OMIM,614171,Exact +GARD:0018338,GeneticAlliance,8543,NA +GARD:0018338,UMLS,C3280026,NA +GARD:0018338,DiseaseOntology,60547,NA +GARD:0018339,OMIM,619172,Exact +GARD:0018339,UMLS,C5436936,NA +GARD:0018340,OMIM,607748,Exact +GARD:0018340,UMLS,C5542604,NA +GARD:0018340,GeneticAlliance,8581,NA +GARD:0018341,OMIM,619256,Exact +GARD:0018341,UMLS,C5543243,NA +GARD:0018342,OMIM,612567,Exact +GARD:0018342,DiseaseOntology,110909,NA +GARD:0018342,UMLS,C2675508,NA +GARD:0018342,GeneticAlliance,8670,NA +GARD:0018343,OMIM,613148,Exact +GARD:0018343,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/crohn-disease,NA +GARD:0018343,UMLS,C2751053,NA +GARD:0018343,GeneticAlliance,8671,NA +GARD:0018343,DiseaseOntology,110899,NA +GARD:0018344,OMIM,609454,Exact +GARD:0018344,UMLS,C1836148,NA +GARD:0018344,DiseaseOntology,678,NA +GARD:0018345,OMIM,610898,Exact +GARD:0018345,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/progressive-supranuclear-palsy,NA +GARD:0018345,DiseaseOntology,678,NA +GARD:0018345,UMLS,C1970476,NA +GARD:0018346,OMIM,612286,Exact +GARD:0018346,DiseaseOntology,80077,NA +GARD:0018346,GeneticAlliance,8977,NA +GARD:0018346,UMLS,C2676786,NA +GARD:0018347,OMIM,612287,Exact +GARD:0018347,UMLS,C2676782,NA +GARD:0018347,GeneticAlliance,8978,NA +GARD:0018347,DiseaseOntology,80078,NA +GARD:0018348,OMIM,615851,Exact +GARD:0018348,DiseaseOntology,60271,NA +GARD:0018348,UMLS,C4014488,NA +GARD:0018348,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia,NA +GARD:0018349,OMIM,239300,Exact +GARD:0018349,GeneticAlliance,8600,NA +GARD:0018349,UMLS,C1855923,NA +GARD:0018349,UMLS,C4551502,NA +GARD:0018349,SNOMED-CT,33982008,NA +GARD:0018350,OMIM,614207,Exact +GARD:0018350,UMLS,C3280153,NA +GARD:0018351,OMIM,614749,Exact +GARD:0018351,UMLS,C3553637,NA +GARD:0018351,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/mabry-syndrome,NA +GARD:0018352,OMIM,615716,Exact +GARD:0018352,UMLS,C3810354,NA +GARD:0018353,OMIM,616025,Exact +GARD:0018353,UMLS,C4014958,NA +GARD:0018354,OMIM,616809,Exact +GARD:0018354,UMLS,C4225201,NA +GARD:0018355,OMIM,609820,Exact +GARD:0018355,DiseaseOntology,80338,NA +GARD:0018355,GeneticAlliance,8356,NA +GARD:0018355,UMLS,C1853286,NA +GARD:0018356,OMIM,611783,Exact +GARD:0018356,UMLS,C2673187,NA +GARD:0018356,GeneticAlliance,8357,NA +GARD:0018356,DiseaseOntology,80339,NA +GARD:0018356,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-erythrocytosis,NA +GARD:0018357,OMIM,617626,Exact +GARD:0018357,UMLS,C4539942,NA +GARD:0018357,DiseaseOntology,80280,NA +GARD:0018358,OMIM,614134,Exact +GARD:0018358,GeneticAlliance,9357,NA +GARD:0018358,UMLS,C3279941,NA +GARD:0018359,OMIM,614284,Exact +GARD:0018359,UMLS,C3280342,NA +GARD:0018359,GeneticAlliance,9358,NA +GARD:0018359,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/stickler-syndrome,NA +GARD:0018360,OMIM,615542,Exact +GARD:0018360,UMLS,C3809858,NA +GARD:0018361,OMIM,616067,Exact +GARD:0018361,DiseaseOntology,111770,NA +GARD:0018361,UMLS,C4015129,NA +GARD:0018361,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/swyer-syndrome,NA +GARD:0018362,OMIM,619096,Exact +GARD:0018362,UMLS,C5436806,NA +GARD:0018363,OMIM,619097,Exact +GARD:0018363,UMLS,C5436807,NA +GARD:0018364,OMIM,619101,Exact +GARD:0018364,UMLS,C5436817,NA +GARD:0018365,OMIM,231090,Exact +GARD:0018365,SNOMED-CT,609518007,NA +GARD:0018365,SNOMED-CT,417044008,NA +GARD:0018365,ICD-10-CM,O01.9,NA +GARD:0018365,DiseaseOntology,3590,NA +GARD:0018365,ICD-10-CM,O01,NA +GARD:0018365,UMLS,C0678213,NA +GARD:0018365,UMLS,C3463897,NA +GARD:0018365,UMLS,C2931618,NA +GARD:0018365,ICD-10-CM,O01.0,NA +GARD:0018365,UMLS,C0020217,NA +GARD:0018365,SNOMED-CT,237249000,NA +GARD:0018365,SNOMED-CT,416402001,NA +GARD:0018365,GeneticAlliance,3504,NA +GARD:0018366,OMIM,614293,Exact +GARD:0018366,DiseaseOntology,3393,NA +GARD:0018366,UMLS,C3280352,NA +GARD:0018366,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/recurrent-hydatidiform-mole,NA +GARD:0018366,GeneticAlliance,8569,NA +GARD:0018367,OMIM,618431,Exact +GARD:0018367,UMLS,C5193093,NA +GARD:0018368,OMIM,618432,Exact +GARD:0018368,UMLS,C5193094,NA +GARD:0018369,OMIM,609560,Exact +GARD:0018369,SNOMED-CT,703527003,NA +GARD:0018369,UMLS,C3149750,NA +GARD:0018369,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form,NA +GARD:0018369,GeneticAlliance,8897,NA +GARD:0018369,DiseaseOntology,80120,NA +GARD:0018370,OMIM,618972,Exact +GARD:0018370,UMLS,C5436514,NA +GARD:0018371,OMIM,618235,Exact +GARD:0018371,DiseaseOntology,112076,NA +GARD:0018371,UMLS,C4748770,NA +GARD:0018372,OMIM,618239,Exact +GARD:0018372,UMLS,C4748786,NA +GARD:0018372,DiseaseOntology,112078,NA +GARD:0018373,OMIM,618243,Exact +GARD:0018373,UMLS,C4748796,NA +GARD:0018373,DiseaseOntology,112069,NA +GARD:0018374,OMIM,618244,Exact +GARD:0018374,UMLS,C4748799,NA +GARD:0018374,DiseaseOntology,112087,NA +GARD:0018375,OMIM,618248,Exact +GARD:0018375,DiseaseOntology,112090,NA +GARD:0018375,UMLS,C4748826,NA +GARD:0018376,OMIM,618249,Exact +GARD:0018376,DiseaseOntology,112095,NA +GARD:0018376,UMLS,C4748827,NA +GARD:0018377,OMIM,618257,Exact +GARD:0018377,DiseaseOntology,111637,NA +GARD:0018377,UMLS,C4748855,NA +GARD:0018378,OMIM,607426,Exact +GARD:0018378,GeneticAlliance,1707,NA +GARD:0018378,UMLS,C3551954,NA +GARD:0018378,DiseaseOntology,70238,NA +GARD:0018379,OMIM,614652,Exact +GARD:0018379,GeneticAlliance,7995,NA +GARD:0018379,DiseaseOntology,70240,NA +GARD:0018379,UMLS,C3553358,NA +GARD:0018380,OMIM,182170,Exact +GARD:0018380,UMLS,C4225428,NA +GARD:0018380,DiseaseOntology,60335,NA +GARD:0018381,OMIM,205950,Exact +GARD:0018381,DiseaseOntology,60065,NA +GARD:0018381,UMLS,C4225425,NA +GARD:0018382,OMIM,617768,Exact +GARD:0018382,DiseaseOntology,80598,NA +GARD:0018382,UMLS,C4540395,NA +GARD:0018383,OMIM,619082,Exact +GARD:0018383,UMLS,C5436769,NA +GARD:0018384,OMIM,614212,Exact +GARD:0018384,UMLS,C3280160,NA +GARD:0018384,GeneticAlliance,8308,NA +GARD:0018385,OMIM,607174,Exact +GARD:0018385,GeneticAlliance,8813,NA +GARD:0018385,UMLS,C3551915,NA +GARD:0018386,OMIM,306000,Exact +GARD:0018386,DiseaseOntology,111042,NA +GARD:0018386,GeneticAlliance,8487,NA +GARD:0018386,UMLS,C1844412,NA +GARD:0018386,UMLS,C3694531,NA +GARD:0018386,UMLS,C2748941,NA +GARD:0018387,OMIM,613027,Exact +GARD:0018387,UMLS,C2751643,NA +GARD:0018387,GeneticAlliance,8484,NA +GARD:0018387,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-ix,NA +GARD:0018387,DiseaseOntology,111043,NA +GARD:0018388,OMIM,615135,Exact +GARD:0018388,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease,NA +GARD:0018388,DiseaseOntology,9269,NA +GARD:0018388,UMLS,C3554575,NA +GARD:0018389,OMIM,189800,Exact +GARD:0018389,UMLS,C0162739,NA +GARD:0018389,SNOMED-CT,398254007,NA +GARD:0018389,ICD-10-CM,O14.2,NA +GARD:0018389,UMLS,C4551893,NA +GARD:0018389,DiseaseOntology,10591,NA +GARD:0018389,ICD-10-CM,O14.90,NA +GARD:0018389,ICD-10-CM,O14.9,NA +GARD:0018389,SNOMED-CT,95605009,NA +GARD:0018389,GeneticAlliance,9140,NA +GARD:0018389,UMLS,C0032914,NA +GARD:0018389,ICD-10-CM,O14,NA +GARD:0018390,OMIM,609402,Exact +GARD:0018390,UMLS,C1836257,NA +GARD:0018390,DiseaseOntology,10591,NA +GARD:0018391,OMIM,609403,Exact +GARD:0018391,DiseaseOntology,10591,NA +GARD:0018391,UMLS,C1836256,NA +GARD:0018392,OMIM,609404,Exact +GARD:0018392,GeneticAlliance,9141,NA +GARD:0018392,UMLS,C1836255,NA +GARD:0018392,DiseaseOntology,10591,NA +GARD:0018393,OMIM,614595,Exact +GARD:0018393,UMLS,C3281288,NA +GARD:0018393,GeneticAlliance,9142,NA +GARD:0018393,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/preeclampsia,NA +GARD:0018394,OMIM,615342,Exact +GARD:0018394,UMLS,C3888002,NA +GARD:0018394,DiseaseOntology,14557,NA +GARD:0018395,OMIM,619132,Exact +GARD:0018395,UMLS,C5436881,NA +GARD:0018396,OMIM,105550,Exact +GARD:0018396,GeneticAlliance,8445,NA +GARD:0018396,DiseaseOntology,60213,NA +GARD:0018396,UMLS,C3888102,NA +GARD:0018397,OMIM,615911,Exact +GARD:0018397,UMLS,C4014648,NA +GARD:0018397,DiseaseOntology,60214,NA +GARD:0018398,OMIM,616439,Exact +GARD:0018398,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/amyotrophic-lateral-sclerosis,NA +GARD:0018398,UMLS,C4225325,NA +GARD:0018398,DiseaseOntology,110069,NA +GARD:0018399,OMIM,606766,Exact +GARD:0018399,DiseaseOntology,70168,NA +GARD:0018399,UMLS,C4721889,NA +GARD:0018400,OMIM,612997,Exact +GARD:0018400,DiseaseOntology,70173,NA +GARD:0018400,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/catsper1-related-nonsyndromic-male-infertility,NA +GARD:0018400,GeneticAlliance,7928,NA +GARD:0018400,UMLS,C2751811,NA +GARD:0018401,OMIM,614822,Exact +GARD:0018401,DiseaseOntology,70178,NA +GARD:0018401,UMLS,C3553793,NA +GARD:0018402,OMIM,617576,Exact +GARD:0018402,UMLS,C4539783,NA +GARD:0018402,DiseaseOntology,70165,NA +GARD:0018403,OMIM,617592,Exact +GARD:0018403,UMLS,C4539818,NA +GARD:0018403,DiseaseOntology,70170,NA +GARD:0018404,OMIM,617593,Exact +GARD:0018404,UMLS,C4539824,NA +GARD:0018404,DiseaseOntology,70166,NA +GARD:0018405,OMIM,617965,Exact +GARD:0018405,DiseaseOntology,111928,NA +GARD:0018405,UMLS,C4693784,NA +GARD:0018406,OMIM,618152,Exact +GARD:0018406,DiseaseOntology,111915,NA +GARD:0018406,UMLS,C4748395,NA +GARD:0018407,OMIM,618153,Exact +GARD:0018407,UMLS,C4748403,NA +GARD:0018407,DiseaseOntology,111911,NA +GARD:0018408,OMIM,618429,Exact +GARD:0018408,UMLS,C5193091,NA +GARD:0018408,DiseaseOntology,111927,NA +GARD:0018409,OMIM,618433,Exact +GARD:0018409,DiseaseOntology,111919,NA +GARD:0018409,UMLS,C5193095,NA +GARD:0018410,OMIM,618643,Exact +GARD:0018410,DiseaseOntology,111926,NA +GARD:0018410,UMLS,C5231438,NA +GARD:0018411,OMIM,618664,Exact +GARD:0018411,DiseaseOntology,111918,NA +GARD:0018411,UMLS,C5231451,NA +GARD:0018412,OMIM,618670,Exact +GARD:0018412,UMLS,C5231455,NA +GARD:0018412,DiseaseOntology,111912,NA +GARD:0018413,OMIM,618745,Exact +GARD:0018413,DiseaseOntology,111923,NA +GARD:0018413,UMLS,C5231488,NA +GARD:0018414,OMIM,618751,Exact +GARD:0018414,UMLS,C5231490,NA +GARD:0018414,DiseaseOntology,111917,NA +GARD:0018415,OMIM,600081,Exact +GARD:0018415,UMLS,C1838657,NA +GARD:0018415,DiseaseOntology,80887,NA +GARD:0018415,GeneticAlliance,9452,NA +GARD:0018416,OMIM,241520,Exact +GARD:0018416,DiseaseOntology,50949,NA +GARD:0018416,SNOMED-CT,726080006,NA +GARD:0018416,SNOMED-CT,90505000,NA +GARD:0018416,UMLS,C4551495,NA +GARD:0018416,GeneticAlliance,7794,NA +GARD:0018416,UMLS,C0342643,NA +GARD:0018417,OMIM,613312,Exact +GARD:0018417,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/hereditary-hypophosphatemic-rickets,NA +GARD:0018417,DiseaseOntology,50949,NA +GARD:0018417,UMLS,C2750078,NA +GARD:0018417,GeneticAlliance,8620,NA +GARD:0018418,OMIM,193000,Exact +GARD:0018418,DiseaseOntology,9620,NA +GARD:0018418,UMLS,C4551858,NA +GARD:0018419,OMIM,610878,Exact +GARD:0018419,UMLS,C1970483,NA +GARD:0018419,GeneticAlliance,9449,NA +GARD:0018419,DiseaseOntology,9620,NA +GARD:0018420,OMIM,613674,Exact +GARD:0018420,GeneticAlliance,9450,NA +GARD:0018420,UMLS,C3150927,NA +GARD:0018420,DiseaseOntology,9620,NA +GARD:0018421,OMIM,614317,Exact +GARD:0018421,UMLS,C3280439,NA +GARD:0018421,DiseaseOntology,9620,NA +GARD:0018422,OMIM,614318,Exact +GARD:0018422,DiseaseOntology,9620,NA +GARD:0018422,UMLS,C3280440,NA +GARD:0018423,OMIM,614319,Exact +GARD:0018423,DiseaseOntology,9620,NA +GARD:0018423,UMLS,C3280441,NA +GARD:0018424,OMIM,615390,Exact +GARD:0018424,UMLS,C3809337,NA +GARD:0018424,DiseaseOntology,9620,NA +GARD:0018425,OMIM,615963,Exact +GARD:0018425,DiseaseOntology,9620,NA +GARD:0018425,UMLS,C4014831,NA +GARD:0018426,OMIM,607936,Exact +GARD:0018426,UMLS,C1838440,NA +GARD:0018426,SNOMED-CT,763768001,NA +GARD:0018426,UMLS,C4225407,NA +GARD:0018426,GeneticAlliance,8362,NA +GARD:0018427,OMIM,617115,Exact +GARD:0018427,UMLS,C4310710,NA +GARD:0018428,OMIM,265050,Exact +GARD:0018428,UMLS,C0796279,NA +GARD:0018428,DiseaseOntology,60576,NA +GARD:0018428,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/3mc-syndrome,NA +GARD:0018428,GeneticAlliance,1105,NA +GARD:0018429,OMIM,614328,Exact +GARD:0018429,GeneticAlliance,8672,NA +GARD:0018429,UMLS,C3280501,NA +GARD:0018430,OMIM,616069,Exact +GARD:0018430,UMLS,C4015130,NA +GARD:0018431,OMIM,208540,Exact +GARD:0018431,UMLS,C3715199,NA +GARD:0018431,DiseaseOntology,60259,NA +GARD:0018431,GeneticAlliance,9220,NA +GARD:0018432,OMIM,615415,Exact +GARD:0018432,UMLS,C3809434,NA +GARD:0018432,DiseaseOntology,60259,NA +GARD:0018433,OMIM,300942,Exact +GARD:0018433,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/x-linked-acrogigantism,NA +GARD:0018433,SNOMED-CT,789187001,NA +GARD:0018433,UMLS,C3891556,NA +GARD:0018434,OMIM,143880,Exact +GARD:0018434,UMLS,C4310232,NA +GARD:0018434,UMLS,C0268080,NA +GARD:0018434,GeneticAlliance,8638,NA +GARD:0018434,SNOMED-CT,34225008,NA +GARD:0018435,OMIM,616963,Exact +GARD:0018435,UMLS,C4310473,NA +GARD:0018435,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/idiopathic-infantile-hypercalcemia,NA +GARD:0018436,OMIM,604185,Exact +GARD:0018436,UMLS,C1858717,NA +GARD:0018437,OMIM,614744,Exact +GARD:0018437,UMLS,C3553625,NA +GARD:0018438,OMIM,614231,Exact +GARD:0018438,GeneticAlliance,8870,NA +GARD:0018438,UMLS,C3280240,NA +GARD:0018439,OMIM,619278,Exact +GARD:0018439,UMLS,C5543294,NA +GARD:0018440,OMIM,615551,Exact +GARD:0018440,UMLS,C3809893,NA +GARD:0018440,DiseaseOntology,111730,NA +GARD:0018441,OMIM,612199,Exact +GARD:0018441,SNOMED-CT,711482008,NA +GARD:0018441,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/coats-plus-syndrome,NA +GARD:0018441,GeneticAlliance,7948,NA +GARD:0018441,UMLS,C4552029,NA +GARD:0018441,UMLS,C2677299,NA +GARD:0018442,OMIM,617341,Exact +GARD:0018442,UMLS,C4479220,NA +GARD:0018443,OMIM,614881,Exact +GARD:0018443,UMLS,C3553989,NA +GARD:0018443,DiseaseOntology,111214,NA +GARD:0018444,OMIM,619216,Exact +GARD:0018444,UMLS,C5543119,NA +GARD:0018445,OMIM,300854,Exact +GARD:0018445,GeneticAlliance,9215,NA +GARD:0018445,UMLS,C3275446,NA +GARD:0018445,DiseaseOntology,4450,NA +GARD:0018446,OMIM,617591,Exact +GARD:0018446,UMLS,C4747850,NA +GARD:0018447,OMIM,618048,Exact +GARD:0018447,UMLS,C4747989,NA +GARD:0018448,OMIM,619175,Exact +GARD:0018448,UMLS,C5543027,NA +GARD:0018449,OMIM,619183,Exact +GARD:0018449,UMLS,C5543053,NA +GARD:0018450,OMIM,616479,Exact +GARD:0018450,UMLS,C4225312,NA +GARD:0018450,DiseaseOntology,111515,NA +GARD:0018451,OMIM,610542,Exact +GARD:0018451,UMLS,C3552335,NA +GARD:0018451,GeneticAlliance,8932,NA +GARD:0018451,DiseaseOntology,110660,NA +GARD:0018452,OMIM,614750,Exact +GARD:0018452,DiseaseOntology,110676,NA +GARD:0018452,UMLS,C3553645,NA +GARD:0018453,OMIM,616227,Exact +GARD:0018453,DiseaseOntology,110658,NA +GARD:0018453,UMLS,C4015596,NA +GARD:0018454,OMIM,616228,Exact +GARD:0018454,UMLS,C4015597,NA +GARD:0018454,DiseaseOntology,110669,NA +GARD:0018455,OMIM,613151,Exact +GARD:0018455,DiseaseOntology,112378,NA +GARD:0018455,UMLS,C3150412,NA +GARD:0018455,GeneticAlliance,8074,NA +GARD:0018456,OMIM,613152,Exact +GARD:0018456,DiseaseOntology,112379,NA +GARD:0018456,UMLS,C2751052,NA +GARD:0018456,GeneticAlliance,8076,NA +GARD:0018457,OMIM,615419,Exact +GARD:0018457,UMLS,C3809454,NA +GARD:0018458,OMIM,616801,Exact +GARD:0018458,UMLS,C4225203,NA +GARD:0018458,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/unc80-deficiency,NA +GARD:0018459,OMIM,616033,Exact +GARD:0018459,UMLS,C4014997,NA +GARD:0018459,UMLS,C4552103,NA +GARD:0018460,OMIM,616817,Exact +GARD:0018460,UMLS,C4225195,NA +GARD:0018461,OMIM,615528,Exact +GARD:0018461,DiseaseOntology,60891,NA +GARD:0018461,UMLS,C3809811,NA +GARD:0018461,UMLS,C4310802,NA +GARD:0018462,OMIM,615530,Exact +GARD:0018462,UMLS,C3809824,NA +GARD:0018462,DiseaseOntology,60898,NA +GARD:0018463,OMIM,616489,Exact +GARD:0018463,UMLS,C4225307,NA +GARD:0018464,OMIM,618907,Exact +GARD:0018464,UMLS,C5394450,NA +GARD:0018465,OMIM,618908,Exact +GARD:0018465,UMLS,C5394456,NA +GARD:0018466,OMIM,615595,Exact +GARD:0018466,DiseaseOntology,111476,NA +GARD:0018466,UMLS,C3810055,NA +GARD:0018467,OMIM,616546,Exact +GARD:0018467,UMLS,C4225286,NA +GARD:0018467,DiseaseOntology,110096,NA +GARD:0018468,OMIM,615592,Exact +GARD:0018468,DiseaseOntology,111959,NA +GARD:0018468,UMLS,C4747743,NA +GARD:0018469,OMIM,618204,Exact +GARD:0018469,UMLS,C4748694,NA +GARD:0018469,DiseaseOntology,111960,NA +GARD:0018470,OMIM,109730,Exact +GARD:0018470,DiseaseOntology,80333,NA +GARD:0018470,SNOMED-CT,8722008,NA +GARD:0018470,GeneticAlliance,7701,NA +GARD:0018470,UMLS,C0428791,NA +GARD:0018470,ICD-10-CM,Q23.1,NA +GARD:0018470,SNOMED-CT,72352009,NA +GARD:0018470,UMLS,C3887892,NA +GARD:0018470,UMLS,C0149630,NA +GARD:0018470,UMLS,C1260873,NA +GARD:0018470,SNOMED-CT,250978003,NA +GARD:0018471,OMIM,614823,Exact +GARD:0018471,UMLS,C0149630,NA +GARD:0018471,DiseaseOntology,80334,NA +GARD:0018471,UMLS,C0003507,NA +GARD:0018471,UMLS,C3542024,NA +GARD:0018471,ICD-10-CM,Q23.1,NA +GARD:0018471,SNOMED-CT,60573004,NA +GARD:0018471,ICD-10-CM,Q25.1,NA +GARD:0018471,SNOMED-CT,72352009,NA +GARD:0018472,OMIM,155600,Exact +GARD:0018472,UMLS,C0151779,NA +GARD:0018472,ICD-10-CM,C43,NA +GARD:0018472,UMLS,C1835047,NA +GARD:0018472,ICD-10-CM,C43.9,NA +GARD:0018472,SNOMED-CT,93655004,NA +GARD:0018472,UMLS,C0013403,NA +GARD:0018472,GeneticAlliance,8118,NA +GARD:0018472,UMLS,C2314896,NA +GARD:0018472,SNOMED-CT,254819008,NA +GARD:0018473,OMIM,606719,Exact +GARD:0018473,GeneticAlliance,8812,NA +GARD:0018473,UMLS,C1838547,NA +GARD:0018474,OMIM,168601,Exact +GARD:0018474,DiseaseOntology,60367,NA +GARD:0018474,UMLS,C1868595,NA +GARD:0018474,GeneticAlliance,9079,NA +GARD:0018475,OMIM,605543,Exact +GARD:0018475,UMLS,C1854182,NA +GARD:0018475,GeneticAlliance,9087,NA +GARD:0018475,DiseaseOntology,60895,NA +GARD:0018476,OMIM,607060,Exact +GARD:0018476,UMLS,C1846862,NA +GARD:0018476,DiseaseOntology,60371,NA +GARD:0018477,OMIM,607688,Exact +GARD:0018477,UMLS,C4083045,NA +GARD:0018477,GeneticAlliance,9080,NA +GARD:0018478,OMIM,614203,Exact +GARD:0018478,DiseaseOntology,60897,NA +GARD:0018478,UMLS,C3280133,NA +GARD:0018478,GeneticAlliance,9084,NA +GARD:0018479,OMIM,614251,Exact +GARD:0018479,GeneticAlliance,9085,NA +GARD:0018479,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/parkinson-disease,NA +GARD:0018479,UMLS,C3280271,NA +GARD:0018480,OMIM,616361,Exact +GARD:0018480,DiseaseOntology,111251,NA +GARD:0018480,UMLS,C4225353,NA +GARD:0018481,OMIM,251270,Exact +GARD:0018481,UMLS,C3278481,NA +GARD:0018481,DiseaseOntology,80105,NA +GARD:0018482,OMIM,616335,Exact +GARD:0018482,UMLS,C4225362,NA +GARD:0018482,DiseaseOntology,80107,NA +GARD:0018483,OMIM,616541,Exact +GARD:0018483,UMLS,C4225288,NA +GARD:0018484,OMIM,617253,Exact +GARD:0018484,DiseaseOntology,70008,NA +GARD:0018484,UMLS,C4310647,NA +GARD:0018485,OMIM,612591,Exact +GARD:0018485,UMLS,C2675481,NA +GARD:0018486,OMIM,615083,Exact +GARD:0018486,UMLS,C3554460,NA +GARD:0018487,OMIM,613000,Exact +GARD:0018487,UMLS,C2931923,NA +GARD:0018487,DiseaseOntology,504,NA +GARD:0018487,DiseaseOntology,111,NA +GARD:0018487,UMLS,C4552049,NA +GARD:0018487,DiseaseOntology,709,NA +GARD:0018487,DiseaseOntology,280,NA +GARD:0018487,GeneticAlliance,7274,NA +GARD:0018488,OMIM,616400,Exact +GARD:0018488,DiseaseOntology,111711,NA +GARD:0018488,UMLS,C4225339,NA +GARD:0018489,OMIM,617035,Exact +GARD:0018489,UMLS,C4284595,NA +GARD:0018490,OMIM,617039,Exact +GARD:0018490,UMLS,C4310753,NA +GARD:0018491,OMIM,616913,Exact +GARD:0018491,UMLS,C4310797,NA +GARD:0018491,DiseaseOntology,111055,NA +GARD:0018492,OMIM,619130,Exact +GARD:0018492,UMLS,C5436874,NA +GARD:0018493,OMIM,610448,Exact +GARD:0018493,GeneticAlliance,7966,NA +GARD:0018493,UMLS,C0024145,NA +GARD:0018493,DiseaseOntology,60386,NA +GARD:0018494,OMIM,614415,Exact +GARD:0018494,GeneticAlliance,7965,NA +GARD:0018494,DiseaseOntology,60386,NA +GARD:0018494,UMLS,C3280721,NA +GARD:0018495,OMIM,616867,Exact +GARD:0018495,UMLS,C4225176,NA +GARD:0018496,OMIM,616780,Exact +GARD:0018496,UMLS,C4225210,NA +GARD:0018497,OMIM,617743,Exact +GARD:0018497,UMLS,C4540284,NA +GARD:0018498,OMIM,619009,Exact +GARD:0018498,UMLS,C5436597,NA +GARD:0018499,OMIM,619011,Exact +GARD:0018499,UMLS,C5436599,NA +GARD:0018500,OMIM,619176,Exact +GARD:0018500,UMLS,C5436938,NA +GARD:0018501,OMIM,616973,Exact +GARD:0018501,DiseaseOntology,70072,NA +GARD:0018501,UMLS,C4310774,NA +GARD:0018502,OMIM,616917,Exact +GARD:0018502,UMLS,C4310794,NA +GARD:0018503,OMIM,400042,Exact +GARD:0018503,UMLS,C4551960,NA +GARD:0018503,DiseaseOntology,70186,NA +GARD:0018503,UMLS,C1839073,NA +GARD:0018503,GeneticAlliance,9330,NA +GARD:0018504,OMIM,415000,Exact +GARD:0018504,DiseaseOntology,70187,NA +GARD:0018504,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/y-chromosome-infertility,NA +GARD:0018504,UMLS,C1839071,NA +GARD:0018504,GeneticAlliance,9329,NA +GARD:0018505,OMIM,252270,Exact +GARD:0018505,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/ataxia-pancytopenia-syndrome,NA +GARD:0018505,UMLS,C1854978,NA +GARD:0018506,OMIM,619041,Exact +GARD:0018506,UMLS,C5436668,NA +GARD:0018507,OMIM,618097,Exact +GARD:0018507,UMLS,C4748176,NA +GARD:0018508,OMIM,617660,Exact +GARD:0018508,UMLS,C4540004,NA +GARD:0018509,OMIM,617661,Exact +GARD:0018509,UMLS,C4540014,NA +GARD:0018510,OMIM,618845,Exact +GARD:0018510,UMLS,C5394250,NA +GARD:0018511,OMIM,301029,Exact +GARD:0018511,UMLS,C5193146,NA +GARD:0018511,DiseaseOntology,111841,NA +GARD:0018512,OMIM,606053,Exact +GARD:0018512,UMLS,C1853755,NA +GARD:0018513,OMIM,617755,Exact +GARD:0018513,UMLS,C4540327,NA +GARD:0018514,OMIM,618009,Exact +GARD:0018514,UMLS,C5231400,NA +GARD:0018515,OMIM,618292,Exact +GARD:0018515,UMLS,C4749014,NA +GARD:0018516,OMIM,618342,Exact +GARD:0018516,UMLS,C5193039,NA +GARD:0018517,OMIM,618430,Exact +GARD:0018517,UMLS,C5193092,NA +GARD:0018518,OMIM,618470,Exact +GARD:0018518,UMLS,C5193115,NA +GARD:0018519,OMIM,618569,Exact +GARD:0018519,UMLS,C5231413,NA +GARD:0018520,OMIM,618653,Exact +GARD:0018520,UMLS,C5231444,NA +GARD:0018521,OMIM,618659,Exact +GARD:0018521,UMLS,C5231448,NA +GARD:0018522,OMIM,618906,Exact +GARD:0018522,UMLS,C5394447,NA +GARD:0018523,OMIM,618914,Exact +GARD:0018523,UMLS,C5394477,NA +GARD:0018524,OMIM,618922,Exact +GARD:0018524,UMLS,C5394517,NA +GARD:0018525,OMIM,618971,Exact +GARD:0018525,UMLS,C5436509,NA +GARD:0018526,OMIM,618974,Exact +GARD:0018526,UMLS,C5436525,NA +GARD:0018527,OMIM,619000,Exact +GARD:0018527,UMLS,C5436574,NA +GARD:0018528,OMIM,619005,Exact +GARD:0018528,UMLS,C5436585,NA +GARD:0018529,OMIM,619031,Exact +GARD:0018529,UMLS,C5436646,NA +GARD:0018530,OMIM,619056,Exact +GARD:0018530,UMLS,C5436699,NA +GARD:0018531,OMIM,619072,Exact +GARD:0018531,UMLS,C5436732,NA +GARD:0018532,OMIM,619076,Exact +GARD:0018532,UMLS,C5436747,NA +GARD:0018533,OMIM,619083,Exact +GARD:0018533,UMLS,C5436771,NA +GARD:0018534,OMIM,619091,Exact +GARD:0018534,UMLS,C5436783,NA +GARD:0018535,OMIM,619092,Exact +GARD:0018535,UMLS,C5436788,NA +GARD:0018536,OMIM,619099,Exact +GARD:0018536,UMLS,C5436813,NA +GARD:0018537,OMIM,619125,Exact +GARD:0018537,UMLS,C5436856,NA +GARD:0018538,OMIM,619149,Exact +GARD:0018538,UMLS,C5436892,NA +GARD:0018539,OMIM,619157,Exact +GARD:0018539,UMLS,C5436914,NA +GARD:0018540,OMIM,619239,Exact +GARD:0018540,UMLS,C5543225,NA +GARD:0018541,OMIM,619243,Exact +GARD:0018541,UMLS,C5543226,NA +GARD:0018542,OMIM,619244,Exact +GARD:0018542,UMLS,C5543228,NA +GARD:0018543,OMIM,619264,Exact +GARD:0018543,UMLS,C5543268,NA +GARD:0018544,OMIM,619268,Exact +GARD:0018544,UMLS,C5543274,NA +GARD:0018545,OMIM,619306,Exact +GARD:0018545,UMLS,C5543332,NA +GARD:0018546,OMIM,619314,Exact +GARD:0018546,UMLS,C5543351,NA +GARD:0018547,OMIM,619320,Exact +GARD:0018547,UMLS,C5543371,NA +GARD:0018548,OMIM,616331,Exact +GARD:0018548,UMLS,C4225363,NA +GARD:0018548,DiseaseOntology,60765,NA +GARD:0018549,OMIM,616894,Exact +GARD:0018549,UMLS,C4225164,NA +GARD:0018549,DiseaseOntology,60767,NA +GARD:0018549,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/robinow-syndrome,NA +GARD:0018550,OMIM,235400,Exact +GARD:0018550,GeneticAlliance,7753,NA +GARD:0018550,UMLS,C2749604,NA +GARD:0018551,OMIM,609814,Exact +GARD:0018551,UMLS,C0398777,NA +GARD:0018551,SNOMED-CT,234622003,NA +GARD:0018551,GeneticAlliance,8366,NA +GARD:0018552,OMIM,612922,Exact +GARD:0018552,GeneticAlliance,7754,NA +GARD:0018552,UMLS,C2752040,NA +GARD:0018553,OMIM,612923,Exact +GARD:0018553,GeneticAlliance,7755,NA +GARD:0018553,UMLS,C2752039,NA +GARD:0018554,OMIM,612924,Exact +GARD:0018554,UMLS,C2752038,NA +GARD:0018554,GeneticAlliance,7756,NA +GARD:0018555,OMIM,612925,Exact +GARD:0018555,GeneticAlliance,7757,NA +GARD:0018555,UMLS,C2752037,NA +GARD:0018556,OMIM,612926,Exact +GARD:0018556,UMLS,C2752036,NA +GARD:0018556,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome,NA +GARD:0018556,GeneticAlliance,7758,NA +GARD:0018557,OMIM,615008,Exact +GARD:0018557,DiseaseOntology,80388,NA +GARD:0018557,UMLS,C3554330,NA +GARD:0018557,UMLS,C3808620,NA +GARD:0018558,OMIM,190440,Exact +GARD:0018558,SNOMED-CT,109409003,NA +GARD:0018558,GeneticAlliance,9427,NA +GARD:0018558,UMLS,C0432122,NA +GARD:0018559,OMIM,614485,Exact +GARD:0018559,GeneticAlliance,9426,NA +GARD:0018559,UMLS,C3280974,NA +GARD:0018560,OMIM,619217,Exact +GARD:0018560,UMLS,C5543128,NA +GARD:0018561,OMIM,619218,Exact +GARD:0018561,UMLS,C5543142,NA +GARD:0018562,OMIM,619301,Exact +GARD:0018562,UMLS,C5543322,NA +GARD:0018562,DiseaseOntology,112325,NA +GARD:0018563,OMIM,619302,Exact +GARD:0018563,UMLS,C5543326,NA +GARD:0018563,DiseaseOntology,112326,NA +GARD:0018564,OMIM,616286,Exact +GARD:0018564,UMLS,C4225386,NA +GARD:0018565,OMIM,616287,Exact +GARD:0018565,UMLS,C4225385,NA +GARD:0018566,OMIM,617468,Exact +GARD:0018566,UMLS,C4479539,NA +GARD:0018566,DiseaseOntology,80978,NA +GARD:0018567,OMIM,618186,Exact +GARD:0018567,UMLS,C4748608,NA +GARD:0018568,OMIM,612336,Exact +GARD:0018568,DiseaseOntology,111900,NA +GARD:0018568,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/protein-s-deficiency,NA +GARD:0018568,GeneticAlliance,6003,NA +GARD:0018568,UMLS,C3278211,NA +GARD:0018569,OMIM,614514,Exact +GARD:0018569,GeneticAlliance,9394,NA +GARD:0018569,DiseaseOntology,111905,NA +GARD:0018569,UMLS,C3281092,NA +GARD:0018570,OMIM,604377,Exact +GARD:0018570,GeneticAlliance,7892,NA +GARD:0018570,UMLS,C5399977,NA +GARD:0018570,DiseaseOntology,80357,NA +GARD:0018570,UMLS,C1858424,NA +GARD:0018571,OMIM,615119,Exact +GARD:0018571,UMLS,C3554534,NA +GARD:0018571,DiseaseOntology,80358,NA +GARD:0018572,OMIM,616500,Exact +GARD:0018572,DiseaseOntology,80359,NA +GARD:0018572,UMLS,C4225154,NA +GARD:0018573,OMIM,616501,Exact +GARD:0018573,UMLS,C4225304,NA +GARD:0018573,DiseaseOntology,80360,NA +GARD:0018573,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/cytochrome-c-oxidase-deficiency,NA +GARD:0018574,OMIM,176860,Exact +GARD:0018574,UMLS,C2674321,NA +GARD:0018574,DiseaseOntology,111909,NA +GARD:0018574,GeneticAlliance,9396,NA +GARD:0018575,OMIM,155601,Exact +GARD:0018575,GeneticAlliance,8808,NA +GARD:0018575,UMLS,C1835044,NA +GARD:0018576,OMIM,155700,Exact +GARD:0018576,UMLS,C1835043,NA +GARD:0018577,OMIM,608035,Exact +GARD:0018577,DiseaseOntology,8923,NA +GARD:0018577,UMLS,C1842643,NA +GARD:0018578,OMIM,609048,Exact +GARD:0018578,UMLS,C1836892,NA +GARD:0018578,GeneticAlliance,8809,NA +GARD:0018579,OMIM,613099,Exact +GARD:0018579,UMLS,C2751295,NA +GARD:0018579,GeneticAlliance,8810,NA +GARD:0018580,OMIM,613972,Exact +GARD:0018580,GeneticAlliance,8811,NA +GARD:0018580,UMLS,C3151417,NA +GARD:0018581,OMIM,615134,Exact +GARD:0018581,UMLS,C3554574,NA +GARD:0018582,OMIM,615848,Exact +GARD:0018582,UMLS,C4014476,NA +GARD:0018582,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/melanoma,NA +GARD:0018583,OMIM,143870,Exact +GARD:0018583,UMLS,C0342639,NA +GARD:0018583,SNOMED-CT,237886009,NA +GARD:0018583,GeneticAlliance,8578,NA +GARD:0018584,OMIM,607258,Exact +GARD:0018584,UMLS,C1846573,NA +GARD:0018585,OMIM,615237,Exact +GARD:0018585,UMLS,C5441717,NA +GARD:0018585,SNOMED-CT,715201005,NA +GARD:0018586,OMIM,164750,Exact +GARD:0018586,UMLS,C3277235,NA +GARD:0018586,DiseaseOntology,60327,NA +GARD:0018587,OMIM,310980,Exact +GARD:0018587,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/abdominal-wall-defect,NA +GARD:0018587,UMLS,C3275625,NA +GARD:0018588,OMIM,617524,Exact +GARD:0018588,DiseaseOntology,80248,NA +GARD:0018588,UMLS,C4479618,NA +GARD:0018589,OMIM,617525,Exact +GARD:0018589,UMLS,C4479619,NA +GARD:0018589,DiseaseOntology,80249,NA +GARD:0018590,OMIM,617526,Exact +GARD:0018590,DiseaseOntology,80250,NA +GARD:0018590,UMLS,C4479620,NA +GARD:0018591,OMIM,129490,Exact +GARD:0018591,UMLS,C3888065,NA +GARD:0018591,DiseaseOntology,111663,NA +GARD:0018592,OMIM,614940,Exact +GARD:0018592,DiseaseOntology,111653,NA +GARD:0018592,UMLS,C3541517,NA +GARD:0018593,OMIM,617337,Exact +GARD:0018593,UMLS,C4310616,NA +GARD:0018593,DiseaseOntology,111652,NA +GARD:0018594,OMIM,181000,Exact +GARD:0018594,UMLS,C2697310,NA +GARD:0018594,GeneticAlliance,9261,NA +GARD:0018595,OMIM,612387,Exact +GARD:0018595,UMLS,C2676468,NA +GARD:0018595,GeneticAlliance,9262,NA +GARD:0018596,OMIM,612388,Exact +GARD:0018596,UMLS,C2676467,NA +GARD:0018597,OMIM,173900,Exact +GARD:0018597,DiseaseOntology,110858,NA +GARD:0018597,GeneticAlliance,9125,NA +GARD:0018597,ICD-10-CM,Q61.2,NA +GARD:0018597,UMLS,C0085413,NA +GARD:0018597,UMLS,C3149841,NA +GARD:0018597,SNOMED-CT,765330003,NA +GARD:0018598,OMIM,600666,Exact +GARD:0018598,UMLS,C3887964,NA +GARD:0018598,DiseaseOntology,110860,NA +GARD:0018599,OMIM,613095,Exact +GARD:0018599,DiseaseOntology,110859,NA +GARD:0018599,UMLS,C2751306,NA +GARD:0018599,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/polycystic-kidney-disease,NA +GARD:0018600,OMIM,614839,Exact +GARD:0018600,UMLS,C3553843,NA +GARD:0018600,DiseaseOntology,90089,NA +GARD:0018601,OMIM,614842,Exact +GARD:0018601,UMLS,C3541462,NA +GARD:0018601,DiseaseOntology,90073,NA +GARD:0018602,OMIM,125700,Exact +GARD:0018602,UMLS,C0687720,NA +GARD:0018602,SNOMED-CT,45369008,NA +GARD:0018602,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/neurohypophyseal-diabetes-insipidus,NA +GARD:0018602,DiseaseOntology,12388,NA +GARD:0018602,GeneticAlliance,5185,NA +GARD:0018603,OMIM,304900,Exact +GARD:0018603,UMLS,C5562113,NA +GARD:0018603,DiseaseOntology,81059,NA +GARD:0018604,OMIM,300557,Exact +GARD:0018604,UMLS,C1845165,NA +GARD:0018605,OMIM,605909,Exact +GARD:0018605,GeneticAlliance,9089,NA +GARD:0018605,DiseaseOntology,60369,NA +GARD:0018605,UMLS,C1853833,NA +GARD:0018606,OMIM,606324,Exact +GARD:0018606,GeneticAlliance,9090,NA +GARD:0018606,DiseaseOntology,60370,NA +GARD:0018606,UMLS,C1853445,NA +GARD:0018607,OMIM,606852,Exact +GARD:0018607,UMLS,C1847360,NA +GARD:0018608,OMIM,610297,Exact +GARD:0018608,UMLS,C1853202,NA +GARD:0018608,GeneticAlliance,9081,NA +GARD:0018609,OMIM,613643,Exact +GARD:0018609,UMLS,C3150899,NA +GARD:0018609,GeneticAlliance,9088,NA +GARD:0018610,OMIM,616840,Exact +GARD:0018610,UMLS,C4225186,NA +GARD:0018610,DiseaseOntology,60896,NA +GARD:0018611,OMIM,108770,Exact +GARD:0018611,UMLS,C1838539,NA +GARD:0018611,UMLS,C4551959,NA +GARD:0018611,DiseaseOntology,80662,NA +GARD:0018612,OMIM,615745,Exact +GARD:0018612,DiseaseOntology,80663,NA +GARD:0018612,UMLS,C3810401,NA +GARD:0018613,OMIM,602247,Exact +GARD:0018613,UMLS,C1865704,NA +GARD:0018614,OMIM,603813,Exact +GARD:0018614,GeneticAlliance,8584,NA +GARD:0018614,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/familial-hypercholesterolemia,NA +GARD:0018614,DiseaseOntology,90105,NA +GARD:0018614,UMLS,C1863512,NA +GARD:0018615,SNOMED-CT,766883006,NA +GARD:0018615,Orphanet,300751,Exact +GARD:0018615,OMIM,115200,Exact +GARD:0018615,ICD-10,I42.0,NTBT +GARD:0018616,OMIM,159900,Exact +GARD:0018616,UMLS,C1834570,NA +GARD:0018616,DiseaseOntology,90034,NA +GARD:0018616,SNOMED-CT,439732004,NA +GARD:0018616,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/myoclonus-dystonia,NA +GARD:0018616,GeneticAlliance,2408,NA +GARD:0018617,OMIM,300672,Exact +GARD:0018617,DiseaseOntology,80467,NA +GARD:0018617,GeneticAlliance,8342,NA +GARD:0018617,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder,NA +GARD:0018617,ICD-10-CM,G40.42,NA +GARD:0018617,UMLS,C4750718,NA +GARD:0018617,SNOMED-CT,773230003,NA +GARD:0018619,OMIM,606070,Exact +GARD:0018619,GeneticAlliance,8951,NA +GARD:0018619,DiseaseOntology,60212,NA +GARD:0018619,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/distal-myopathy-2,NA +GARD:0018619,UMLS,C3807521,NA +GARD:0018620,OMIM,610489,Exact +GARD:0018620,GeneticAlliance,9110,NA +GARD:0018620,DiseaseOntology,60280,NA +GARD:0018620,UMLS,C1864846,NA +GARD:0018621,OMIM,615878,Exact +GARD:0018621,DiseaseOntology,70224,NA +GARD:0018621,UMLS,C2931067,NA +GARD:0018622,OMIM,616266,Exact +GARD:0018622,DiseaseOntology,81048,NA +GARD:0018622,UMLS,C4225398,NA +GARD:0018623,OMIM,156200,Exact +GARD:0018623,DiseaseOntology,70031,NA +GARD:0018623,UMLS,C1969562,NA +GARD:0018623,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/mbd5-associated-neurodevelopmental-disorder,NA +GARD:0018623,GeneticAlliance,8817,NA +GARD:0018624,OMIM,614381,Exact +GARD:0018624,DiseaseOntology,60797,NA +GARD:0018624,UMLS,C3280644,NA +GARD:0018624,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/pol-iii-related-leukodystrophy,NA +GARD:0018625,OMIM,600165,Exact +GARD:0018625,DiseaseOntology,80634,NA +GARD:0018625,UMLS,C1838502,NA +GARD:0018626,OMIM,609549,Exact +GARD:0018626,GeneticAlliance,8969,NA +GARD:0018626,UMLS,C1836006,NA +GARD:0018626,DiseaseOntology,80634,NA +GARD:0018627,OMIM,611897,Exact +GARD:0018627,DiseaseOntology,80634,NA +GARD:0018627,UMLS,C2678467,NA +GARD:0018628,OMIM,613517,Exact +GARD:0018628,GeneticAlliance,8877,NA +GARD:0018628,DiseaseOntology,60835,NA +GARD:0018628,UMLS,C3150757,NA +GARD:0018629,OMIM,615972,Exact +GARD:0018629,UMLS,C4014848,NA +GARD:0018629,DiseaseOntology,80634,NA +GARD:0018630,OMIM,227300,Exact +GARD:0018630,UMLS,C4551981,NA +GARD:0018631,OMIM,227310,Exact +GARD:0018631,UMLS,C1856882,NA +GARD:0018632,OMIM,613625,Exact +GARD:0018632,GeneticAlliance,8368,NA +GARD:0018632,UMLS,C3150889,NA +GARD:0018633,OMIM,609620,Exact +GARD:0018633,UMLS,C1865020,NA +GARD:0018633,DiseaseOntology,50793,NA +GARD:0018633,GeneticAlliance,9290,NA +GARD:0018634,OMIM,609621,Exact +GARD:0018634,DiseaseOntology,50793,NA +GARD:0018634,UMLS,C1865019,NA +GARD:0018634,GeneticAlliance,9291,NA +GARD:0018635,OMIM,609622,Exact +GARD:0018635,GeneticAlliance,9292,NA +GARD:0018635,DiseaseOntology,50793,NA +GARD:0018635,UMLS,C1865018,NA +GARD:0018635,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/short-qt-syndrome,NA +GARD:0018636,OMIM,264700,Exact +GARD:0018636,DiseaseOntology,80886,NA +GARD:0018636,SNOMED-CT,67049004,NA +GARD:0018636,GeneticAlliance,9453,NA +GARD:0018636,UMLS,C0268689,NA +GARD:0018637,OMIM,105250,Exact +GARD:0018637,SNOMED-CT,111390002,NA +GARD:0018637,SNOMED-CT,237870002,NA +GARD:0018637,GeneticAlliance,393,NA +GARD:0018637,UMLS,C4551501,NA +GARD:0018637,DiseaseOntology,80930,NA +GARD:0018637,UMLS,C0268398,NA +GARD:0018638,OMIM,613955,Exact +GARD:0018638,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/primary-localized-cutaneous-amyloidosis,NA +GARD:0018638,UMLS,C3151404,NA +GARD:0018638,GeneticAlliance,7684,NA +GARD:0018638,DiseaseOntology,80931,NA +GARD:0018639,Orphanet,316,Exact +GARD:0018639,OMIM,618531,BTNT +GARD:0018639,OMIM,619209,BTNT +GARD:0018639,OMIM,617756,BTNT +GARD:0018639,ICD-10,Q82.8,NTBT +GARD:0018640,Orphanet,777,Exact +GARD:0018640,OMIM,300436,BTNT +GARD:0018640,OMIM,300433,BTNT +GARD:0018640,UMLS,C2931498,Exact +GARD:0018640,ICD-10,F71,BTNT +GARD:0018640,ICD-10,F70,BTNT +GARD:0018640,ICD-10,F72,BTNT +GARD:0018640,OMIM,300928,BTNT +GARD:0018640,OMIM,300504,BTNT +GARD:0018640,OMIM,300387,BTNT +GARD:0018640,OMIM,300062,BTNT +GARD:0018640,OMIM,300848,BTNT +GARD:0018640,OMIM,300372,BTNT +GARD:0018640,OMIM,301013,BTNT +GARD:0018640,OMIM,300271,BTNT +GARD:0018640,OMIM,300518,BTNT +GARD:0018640,OMIM,300849,BTNT +GARD:0018640,OMIM,300919,BTNT +GARD:0018640,OMIM,300716,BTNT +GARD:0018640,OMIM,309549,BTNT +GARD:0018640,OMIM,300210,BTNT +GARD:0018640,OMIM,300498,BTNT +GARD:0018640,OMIM,300852,BTNT +GARD:0018640,OMIM,300984,BTNT +GARD:0018640,OMIM,300851,BTNT +GARD:0018640,ICD-10,F73,BTNT +GARD:0018640,OMIM,309530,BTNT +GARD:0018640,OMIM,300558,BTNT +GARD:0018640,OMIM,300355,BTNT +GARD:0018640,OMIM,300047,BTNT +GARD:0018640,OMIM,300419,BTNT +GARD:0018640,OMIM,300802,BTNT +GARD:0018640,OMIM,300143,BTNT +GARD:0018640,OMIM,300850,BTNT +GARD:0018640,OMIM,300844,BTNT +GARD:0018640,OMIM,300115,BTNT +GARD:0018640,OMIM,300983,BTNT +GARD:0018640,OMIM,300324,BTNT +GARD:0018640,OMIM,300803,BTNT +GARD:0018640,OMIM,300505,BTNT +GARD:0018640,OMIM,300705,BTNT +GARD:0018640,OMIM,300454,BTNT +GARD:0018640,OMIM,300046,BTNT +GARD:0018640,OMIM,300428,BTNT +GARD:0018640,OMIM,300978,BTNT +GARD:0018641,Orphanet,36387,Exact +GARD:0018641,OMIM,613863,BTNT +GARD:0018641,ICD-10,G40.3,NTBT +GARD:0018641,OMIM,618482,BTNT +GARD:0018641,OMIM,604233,Exact +GARD:0018641,OMIM,612279,BTNT +GARD:0018641,OMIM,604403,BTNT +GARD:0018641,OMIM,609800,BTNT +GARD:0018641,UMLS,C3502809,Exact +GARD:0018641,OMIM,611277,BTNT +GARD:0018641,OMIM,616172,BTNT +GARD:0018641,OMIM,613828,BTNT +GARD:0018641,OMIM,613060,NTBT +GARD:0018641,SNOMED-CT,699688008,NA +GARD:0018642,Orphanet,46532,Exact +GARD:0018642,OMIM,142470,BTNT +GARD:0018642,OMIM,613566,BTNT +GARD:0018642,ICD-11,3A50.4,Exact +GARD:0018642,OMIM,141749,BTNT +GARD:0018642,OMIM,305435,BTNT +GARD:0018642,OMIM,142335,BTNT +GARD:0018642,ICD-10,D56.4,Exact +GARD:0018642,SNOMED-CT,16964007,NA +GARD:0018643,Orphanet,88616,Exact +GARD:0018643,OMIM,613192,BTNT +GARD:0018643,OMIM,618687,BTNT +GARD:0018643,OMIM,614347,BTNT +GARD:0018643,OMIM,611097,BTNT +GARD:0018643,OMIM,614340,BTNT +GARD:0018643,OMIM,616116,BTNT +GARD:0018643,OMIM,611096,BTNT +GARD:0018643,OMIM,607417,BTNT +GARD:0018643,OMIM,616460,BTNT +GARD:0018643,OMIM,614342,BTNT +GARD:0018643,OMIM,616193,BTNT +GARD:0018643,OMIM,608443,BTNT +GARD:0018643,OMIM,617188,BTNT +GARD:0018643,OMIM,617816,BTNT +GARD:0018643,OMIM,618402,BTNT +GARD:0018643,OMIM,614343,BTNT +GARD:0018643,OMIM,615942,BTNT +GARD:0018643,OMIM,611092,BTNT +GARD:0018643,OMIM,611091,BTNT +GARD:0018643,OMIM,616887,BTNT +GARD:0018643,ICD-10,F73,BTNT +GARD:0018643,OMIM,614329,BTNT +GARD:0018643,OMIM,614208,BTNT +GARD:0018643,OMIM,611107,BTNT +GARD:0018643,OMIM,615979,BTNT +GARD:0018643,ICD-10,F70,BTNT +GARD:0018643,OMIM,614333,BTNT +GARD:0018643,OMIM,616739,BTNT +GARD:0018643,OMIM,615802,BTNT +GARD:0018643,OMIM,618221,BTNT +GARD:0018643,OMIM,614249,BTNT +GARD:0018643,OMIM,615817,BTNT +GARD:0018643,OMIM,617709,BTNT +GARD:0018643,OMIM,617028,BTNT +GARD:0018643,OMIM,614344,BTNT +GARD:0018643,ICD-10,F71,BTNT +GARD:0018643,OMIM,618109,BTNT +GARD:0018643,OMIM,614345,BTNT +GARD:0018643,OMIM,249500,BTNT +GARD:0018643,OMIM,617125,BTNT +GARD:0018643,OMIM,611090,BTNT +GARD:0018643,ICD-10,F72,BTNT +GARD:0018643,OMIM,614346,BTNT +GARD:0018643,OMIM,611093,BTNT +GARD:0018643,OMIM,614020,BTNT +GARD:0018643,OMIM,611095,BTNT +GARD:0018643,OMIM,614202,BTNT +GARD:0018643,OMIM,614499,BTNT +GARD:0018643,OMIM,614341,BTNT +GARD:0018644,SNOMED-CT,232330007,NA +GARD:0018644,Orphanet,90636,Exact +GARD:0018644,OMIM,609439,BTNT +GARD:0018644,OMIM,609952,BTNT +GARD:0018644,OMIM,609006,BTNT +GARD:0018644,OMIM,610153,BTNT +GARD:0018644,OMIM,613865,BTNT +GARD:0018644,OMIM,610143,BTNT +GARD:0018644,OMIM,603678,BTNT +GARD:0018644,OMIM,600060,BTNT +GARD:0018644,OMIM,618456,BTNT +GARD:0018644,OMIM,609646,BTNT +GARD:0018644,OMIM,601869,BTNT +GARD:0018644,OMIM,614414,BTNT +GARD:0018644,OMIM,604060,BTNT +GARD:0018644,OMIM,617639,BTNT +GARD:0018644,OMIM,600974,BTNT +GARD:0018644,OMIM,603098,BTNT +GARD:0018644,OMIM,607821,BTNT +GARD:0018644,OMIM,608565,BTNT +GARD:0018644,OMIM,615837,BTNT +GARD:0018644,OMIM,601072,BTNT +GARD:0018644,OMIM,615429,BTNT +GARD:0018644,OMIM,607084,BTNT +GARD:0018644,OMIM,614944,BTNT +GARD:0018644,OMIM,609647,BTNT +GARD:0018644,OMIM,613079,BTNT +GARD:0018644,OMIM,609946,BTNT +GARD:0018644,OMIM,612645,BTNT +GARD:0018644,OMIM,613307,BTNT +GARD:0018644,OMIM,617637,BTNT +GARD:0018644,OMIM,608219,BTNT +GARD:0018644,OMIM,605818,BTNT +GARD:0018644,OMIM,609823,BTNT +GARD:0018644,OMIM,600316,BTNT +GARD:0018644,OMIM,600971,BTNT +GARD:0018644,OMIM,618422,BTNT +GARD:0018644,OMIM,615540,BTNT +GARD:0018644,OMIM,609941,BTNT +GARD:0018644,OMIM,600792,BTNT +GARD:0018644,OMIM,602092,BTNT +GARD:0018644,OMIM,610212,BTNT +GARD:0018644,OMIM,608653,BTNT +GARD:0018644,OMIM,614934,BTNT +GARD:0018644,OMIM,610248,BTNT +GARD:0018644,OMIM,612433,BTNT +GARD:0018644,OMIM,613916,BTNT +GARD:0018644,OMIM,600791,BTNT +GARD:0018644,OMIM,607101,BTNT +GARD:0018644,OMIM,613718,BTNT +GARD:0018644,OMIM,610265,BTNT +GARD:0018644,OMIM,616705,BTNT +GARD:0018644,OMIM,614617,BTNT +GARD:0018644,OMIM,607039,BTNT +GARD:0018644,OMIM,607239,BTNT +GARD:0018644,OMIM,616515,BTNT +GARD:0018644,OMIM,608265,BTNT +GARD:0018644,OMIM,611451,BTNT +GARD:0018644,OMIM,601071,BTNT +GARD:0018644,OMIM,220290,BTNT +GARD:0018644,OMIM,603629,BTNT +GARD:0018644,OMIM,613285,BTNT +GARD:0018644,OMIM,613391,BTNT +GARD:0018644,OMIM,603720,BTNT +GARD:0018644,OMIM,601386,BTNT +GARD:0018644,OMIM,613453,BTNT +GARD:0018644,OMIM,614035,BTNT +GARD:0018644,OMIM,613685,BTNT +GARD:0018644,OMIM,603010,BTNT +GARD:0018644,OMIM,613392,BTNT +GARD:0018644,ICD-10,H90.3,NTBT +GARD:0018644,OMIM,615974,BTNT +GARD:0018644,OMIM,608264,BTNT +GARD:0018644,OMIM,618481,BTNT +GARD:0018644,OMIM,618410,BTNT +GARD:0018644,OMIM,616958,BTNT +GARD:0018644,OMIM,605428,BTNT +GARD:0018644,OMIM,614861,BTNT +GARD:0018644,OMIM,619174,BTNT +GARD:0018644,OMIM,614899,BTNT +GARD:0018644,OMIM,618257,BTNT +GARD:0018644,OMIM,610154,BTNT +GARD:0018644,OMIM,611022,BTNT +GARD:0018644,OMIM,616042,BTNT +GARD:0018644,OMIM,619093,BTNT +GARD:0018644,OMIM,618434,BTNT +GARD:0018644,OMIM,609533,BTNT +GARD:0018644,OMIM,610220,BTNT +GARD:0018644,OMIM,612789,BTNT +GARD:0018644,OMIM,610419,BTNT +GARD:0018644,OMIM,617654,BTNT +GARD:0018644,OMIM,618145,BTNT +GARD:0018644,OMIM,614945,BTNT +GARD:0018644,OMIM,609706,BTNT +GARD:0018645,Orphanet,93592,Exact +GARD:0018645,UMLS,C1855681,Exact +GARD:0018645,OMIM,615382,BTNT +GARD:0018645,OMIM,256100,NTBT +GARD:0018645,ICD-10,Q61.5,NTBT +GARD:0018645,OMIM,615383,BTNT +GARD:0018646,SNOMED-CT,722122000,NA +GARD:0018646,Orphanet,137634,Exact +GARD:0018646,OMIM,613675,NTBT +GARD:0018646,OMIM,614192,Exact +GARD:0018646,ICD-10,Q87.3,NTBT +GARD:0018647,Orphanet,168615,Exact +GARD:0018647,OMIM,615970,Exact +GARD:0018647,ICD-10,R77.2,NTBT +GARD:0018647,SNOMED-CT,716697002,NA +GARD:0018648,SNOMED-CT,783254003,NA +GARD:0018648,Orphanet,251380,Exact +GARD:0018648,OMIM,142470,BTNT +GARD:0018648,OMIM,141749,BTNT +GARD:0018648,ICD-10,D57.2,NTBT +GARD:0018648,OMIM,142335,BTNT +GARD:0018648,OMIM,305435,BTNT +GARD:0018648,OMIM,613566,BTNT +GARD:0018649,SNOMED-CT,780820008,NA +GARD:0018649,Orphanet,254913,Exact +GARD:0018649,OMIM,604273,BTNT +GARD:0018649,OMIM,614053,BTNT +GARD:0018649,ICD-11,5C53.25,Exact +GARD:0018649,ICD-10,E88.8,NTBT +GARD:0018649,OMIM,615228,BTNT +GARD:0018649,OMIM,618120,BTNT +GARD:0018649,OMIM,618683,BTNT +GARD:0018650,Orphanet,280654,Exact +GARD:0018650,ICD-10,Q84.6,NTBT +GARD:0018650,OMIM,614157,Exact +GARD:0018650,OMIM,161050,NTBT +GARD:0018650,SNOMED-CT,782878007,NA +GARD:0018651,Orphanet,363989,Exact +GARD:0018651,UMLS,C1856718,Exact +GARD:0018651,OMIM,228980,Exact +GARD:0018651,ICD-10,H35.5,NTBT +GARD:0018651,SNOMED-CT,770434009,NA +GARD:0018652,Orphanet,440713,Exact +GARD:0018652,SNOMED-CT,124309005,NA +GARD:0018652,ICD-10,E88.8,NTBT +GARD:0018652,OMIM,617213,Exact +GARD:0018653,Orphanet,443950,Exact +GARD:0018653,ICD-10,G60.0,NTBT +GARD:0018653,OMIM,616233,ND (not yet decided/unable to decide) +GARD:0018653,OMIM,614881,NTBT +GARD:0018654,Orphanet,444069,Exact +GARD:0018654,OMIM,243605,ND (not yet decided/unable to decide) +GARD:0018654,OMIM,616369,Exact +GARD:0018654,ICD-10,Q87.8,NTBT +GARD:0018655,Orphanet,572773,Exact +GARD:0018655,OMIM,617704,Exact +GARD:0018656,OMIM,141749,Exact +GARD:0018656,GeneticAlliance,8427,NA +GARD:0018656,UMLS,C1841621,NA +GARD:0018657,OMIM,142470,Exact +GARD:0018657,UMLS,C1840598,NA +GARD:0018658,OMIM,305435,Exact +GARD:0018658,UMLS,C1844568,NA +GARD:0018659,OMIM,604233,Exact +GARD:0018659,UMLS,C1858672,NA +GARD:0018659,DiseaseOntology,111302,NA +GARD:0018659,GeneticAlliance,8459,NA +GARD:0018660,OMIM,604273,Exact +GARD:0018660,UMLS,C3276276,NA +GARD:0018660,DiseaseOntology,50768,NA +GARD:0018660,GeneticAlliance,9024,NA +GARD:0018661,OMIM,604403,Exact +GARD:0018661,GeneticAlliance,8460,NA +GARD:0018661,UMLS,C1858673,NA +GARD:0018661,DiseaseOntology,111294,NA +GARD:0018661,UMLS,C2751756,NA +GARD:0018662,OMIM,609800,Exact +GARD:0018662,DiseaseOntology,111293,NA +GARD:0018662,UMLS,C1853345,NA +GARD:0018663,OMIM,612279,Exact +GARD:0018663,DiseaseOntology,111300,NA +GARD:0018663,UMLS,C2677078,NA +GARD:0018664,OMIM,613828,Exact +GARD:0018664,UMLS,C3151191,NA +GARD:0018664,DiseaseOntology,111299,NA +GARD:0018665,OMIM,613863,Exact +GARD:0018665,DiseaseOntology,111295,NA +GARD:0018665,GeneticAlliance,8461,NA +GARD:0018665,UMLS,C3151229,NA +GARD:0018665,UMLS,C2751778,NA +GARD:0018666,OMIM,614053,Exact +GARD:0018666,GeneticAlliance,9026,NA +GARD:0018666,UMLS,C3279708,NA +GARD:0018666,DiseaseOntology,60332,NA +GARD:0018667,OMIM,615228,Exact +GARD:0018667,DiseaseOntology,60333,NA +GARD:0018667,UMLS,C3808899,NA +GARD:0018667,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/mitochondrial-complex-v-deficiency,NA +GARD:0018668,OMIM,616172,Exact +GARD:0018668,UMLS,C4015395,NA +GARD:0018668,DiseaseOntology,111301,NA +GARD:0018668,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/genetic-epilepsy-with-febrile-seizures-plus,NA +GARD:0018669,OMIM,617756,Exact +GARD:0018669,UMLS,C4540331,NA +GARD:0018669,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/erythrokeratodermia-variabilis-et-progressiva,NA +GARD:0018669,DiseaseOntology,80251,NA +GARD:0018670,OMIM,618120,Exact +GARD:0018670,UMLS,C4748269,NA +GARD:0018671,OMIM,618482,Exact +GARD:0018671,UMLS,C5193120,NA +GARD:0018671,DiseaseOntology,111296,NA +GARD:0018672,OMIM,618531,Exact +GARD:0018672,DiseaseOntology,80766,NA +GARD:0018672,UMLS,C5193144,NA +GARD:0018673,OMIM,618683,Exact +GARD:0018673,DiseaseOntology,111749,NA +GARD:0018673,UMLS,C5231461,NA +GARD:0018674,OMIM,619209,Exact +GARD:0018674,UMLS,C5543106,NA +GARD:0018675,Orphanet,67,Exact +GARD:0018675,ICD-10,A06.8,BTNT +GARD:0018675,UMLS,C2930799,Exact +GARD:0018675,ICD-10,A06.6,BTNT +GARD:0018675,ICD-10,A06.5,BTNT +GARD:0018675,ICD-10,A06.0,BTNT +GARD:0018675,ICD-10,A06.7,BTNT +GARD:0018675,ICD-10,A06.9,BTNT +GARD:0018675,ICD-10,A06.4,BTNT +GARD:0018675,ICD-10,A06.2,BTNT +GARD:0018675,ICD-10,A06.3,BTNT +GARD:0018675,ICD-10,A06.1,BTNT +GARD:0018675,MeSH,C531613,Exact +GARD:0018675,SNOMED-CT,388759003,NA +GARD:0018676,SNOMED-CT,17602002,NA +GARD:0018676,Orphanet,69,Exact +GARD:0018676,ICD-10,E85.1,BTNT +GARD:0018676,MedDRA,10002022,Exact +GARD:0018676,ICD-10,E85.3,BTNT +GARD:0018676,ICD-10,E85.0,BTNT +GARD:0018676,UMLS,C0002726,Exact +GARD:0018676,ICD-10,E85.8,BTNT +GARD:0018676,MeSH,D000686,Exact +GARD:0018676,ICD-10,E85.4,BTNT +GARD:0018676,ICD-10,E85.2,BTNT +GARD:0018676,ICD-10,E85.9,BTNT +GARD:0018677,Orphanet,92,Exact +GARD:0018677,UMLS,C0553662,Exact +GARD:0018677,ICD-10,M08.2,BTNT +GARD:0018677,MeSH,D001171,Exact +GARD:0018677,ICD-10,M08.1,BTNT +GARD:0018677,SNOMED-CT,410502007,NA +GARD:0018677,ICD-10,M08.0,BTNT +GARD:0018677,ICD-10,M08.9,BTNT +GARD:0018677,UMLS,C3495559,Exact +GARD:0018677,UMLS,C1444838,Exact +GARD:0018677,ICD-10,M08.3,BTNT +GARD:0018677,MedDRA,10059177,Exact +GARD:0018677,ICD-10,M08.8,BTNT +GARD:0018677,ICD-10,M08.4,BTNT +GARD:0018678,SNOMED-CT,253902002,NA +GARD:0018678,Orphanet,105,Exact +GARD:0018678,UMLS,C1610065,Exact +GARD:0018678,ICD-11,LB31.2,NTBT +GARD:0018678,MedDRA,10064895,Exact +GARD:0018678,ICD-10,Q64.3,Exact +GARD:0018678,UMLS,C0345345,Exact +GARD:0018679,Orphanet,176,Exact +GARD:0018679,ICD-10,Q77.3,NTBT +GARD:0018680,SNOMED-CT,39905002,NA +GARD:0018680,Orphanet,185,Exact +GARD:0018680,UMLS,C0036400,Exact +GARD:0018680,ICD-11,LA86.22,Exact +GARD:0018680,MedDRA,10051951,Exact +GARD:0018680,ICD-10,Q26.8,NTBT +GARD:0018680,MeSH,D012587,Exact +GARD:0018681,Orphanet,200,Exact +GARD:0018681,ICD-10,Q04.0,NTBT +GARD:0018682,SNOMED-CT,49817004,NA +GARD:0018682,Orphanet,224,Exact +GARD:0018682,UMLS,C0158981,Exact +GARD:0018682,ICD-10,P70.2,Exact +GARD:0018682,MedDRA,10028933,Exact +GARD:0018682,ICD-11,KB60.2,Exact +GARD:0018683,SNOMED-CT,77527000,NA +GARD:0018683,Orphanet,236,Exact +GARD:0018683,ICD-11,LD41.81,Exact +GARD:0018683,UMLS,C0265428,Exact +GARD:0018683,ICD-10,Q92.2,NTBT +GARD:0018684,Orphanet,238,Exact +GARD:0018684,ICD-10,Q45.8,NTBT +GARD:0018685,Orphanet,254,Exact +GARD:0018685,ICD-11,LD24.4,Exact +GARD:0018685,ICD-10,Q77.8,NTBT +GARD:0018686,Orphanet,262,Exact +GARD:0018686,UMLS,C3542021,Exact +GARD:0018686,ICD-10,G71.0,NTBT +GARD:0018686,UMLS,C0917713,Exact +GARD:0018687,SNOMED-CT,715337002,NA +GARD:0018687,Orphanet,293,Exact +GARD:0018687,ICD-10,P35.2,NTBT +GARD:0018688,SNOMED-CT,79745005,NA +GARD:0018688,Orphanet,310,Exact +GARD:0018688,MeSH,D020195,Exact +GARD:0018688,ICD-10,G40.8,NTBT +GARD:0018688,ICD-11,8A61.40,Exact +GARD:0018688,UMLS,C0270857,Exact +GARD:0018689,SNOMED-CT,716864001,NA +GARD:0018689,Orphanet,340,Exact +GARD:0018689,MedDRA,10023484,Exact +GARD:0018689,UMLS,C0019101,Exact +GARD:0018689,UMLS,C2930957,Exact +GARD:0018689,ICD-10,A98.5+,Exact +GARD:0018689,MeSH,D006480,Exact +GARD:0018689,ICD-10,N08.0*,Exact +GARD:0018689,ICD-11,1D62.0,Exact +GARD:0018689,MeSH,C535630,Exact +GARD:0018690,Orphanet,344,Exact +GARD:0018691,Orphanet,370,Exact +GARD:0018691,UMLS,C0268147,Exact +GARD:0018691,ICD-10,E74.0,NTBT +GARD:0018692,Orphanet,390,Exact +GARD:0018692,ICD-10,B39.1,BTNT +GARD:0018692,UMLS,C0153261,Exact +GARD:0018692,MeSH,D006660,Exact +GARD:0018692,MedDRA,10020141,Exact +GARD:0018692,ICD-10,B39.4,BTNT +GARD:0018692,ICD-10,B39.0,BTNT +GARD:0018692,SNOMED-CT,12962009,NA +GARD:0018692,ICD-10,B39.3,BTNT +GARD:0018692,UMLS,C0019655,Exact +GARD:0018692,MedDRA,10021808,Exact +GARD:0018692,ICD-10,B39.5,BTNT +GARD:0018692,ICD-10,B39.9,BTNT +GARD:0018692,ICD-10,B39.2,BTNT +GARD:0018693,Orphanet,493,Exact +GARD:0018693,ICD-10,L85.8,NTBT +GARD:0018693,UMLS,C0546476,Exact +GARD:0018693,SNOMED-CT,716774008,NA +GARD:0018694,Orphanet,498,Exact +GARD:0018694,ICD-10,L85.8,NTBT +GARD:0018694,SNOMED-CT,400059005,NA +GARD:0018695,Orphanet,536,Exact +GARD:0018695,MeSH,D008180,Exact +GARD:0018695,ICD-10,M32.9,BTNT +GARD:0018695,ICD-10,M32.8,BTNT +GARD:0018695,ICD-10,M32.1,BTNT +GARD:0018695,ICD-10,M32.0,BTNT +GARD:0018695,SNOMED-CT,55464009,NA +GARD:0018696,Orphanet,537,Exact +GARD:0018696,UMLS,C0014518,Exact +GARD:0018696,ICD-10,L51.2,NTBT +GARD:0018697,Orphanet,541,Exact +GARD:0018697,MeSH,D054446,Exact +GARD:0018697,UMLS,C1698767,Exact +GARD:0018697,MedDRA,10065863,Exact +GARD:0018697,UMLS,C1301362,Exact +GARD:0018697,ICD-10,C86.6,Exact +GARD:0018697,ICD-11,2B03,Exact +GARD:0018698,Orphanet,542,Exact +GARD:0018698,SNOMED-CT,400001003,NA +GARD:0018698,MedDRA,10051708,Exact +GARD:0018698,UMLS,C1276146,Exact +GARD:0018698,UMLS,C1302772,Exact +GARD:0018699,Orphanet,599,Exact +GARD:0018699,ICD-11,8C75,Exact +GARD:0018699,ICD-10,G71.0,NTBT +GARD:0018699,UMLS,C0751336,Exact +GARD:0018700,SNOMED-CT,717459000,NA +GARD:0018700,Orphanet,617,Exact +GARD:0018700,ICD-11,LB31.1,Exact +GARD:0018700,ICD-10,Q62.2,Exact +GARD:0018701,Orphanet,658,Exact +GARD:0018702,SNOMED-CT,58750007,NA +GARD:0018702,Orphanet,707,Exact +GARD:0018702,ICD-10,A20.1,BTNT +GARD:0018702,MedDRA,10035148,Exact +GARD:0018702,ICD-10,A20.0,BTNT +GARD:0018702,ICD-10,A20.2,BTNT +GARD:0018702,MeSH,D010930,Exact +GARD:0018702,MeSH,D015009,Exact +GARD:0018702,MedDRA,10061416,Exact +GARD:0018702,ICD-10,A20.3,BTNT +GARD:0018702,ICD-10,A20.9,BTNT +GARD:0018702,ICD-10,A20.8,BTNT +GARD:0018702,ICD-10,A20.7,BTNT +GARD:0018702,UMLS,C0032064,Exact +GARD:0018702,UMLS,C0043407,Exact +GARD:0018703,Orphanet,720,Exact +GARD:0018703,SNOMED-CT,717360009,NA +GARD:0018703,ICD-10,L67.8,NTBT +GARD:0018704,Orphanet,795,Exact +GARD:0018704,ICD-10,A01.3,BTNT +GARD:0018704,MedDRA,10039447,Exact +GARD:0018704,ICD-10,A02.2,BTNT +GARD:0018704,ICD-10,A02.8,BTNT +GARD:0018704,ICD-10,A02.9,BTNT +GARD:0018704,ICD-10,A02.1,BTNT +GARD:0018704,ICD-10,A01.4,BTNT +GARD:0018704,ICD-10,A01.2,BTNT +GARD:0018704,ICD-10,A01.0,BTNT +GARD:0018704,ICD-10,A01.1,BTNT +GARD:0018704,UMLS,C0036117,Exact +GARD:0018704,ICD-10,A02.0,BTNT +GARD:0018704,UMLS,C0036114,Exact +GARD:0018705,Orphanet,801,Exact +GARD:0018705,MedDRA,10039710,Exact +GARD:0018705,UMLS,C0852007,Exact +GARD:0018705,UMLS,C0011644,Exact +GARD:0018705,SNOMED-CT,89155008,NA +GARD:0018706,Orphanet,831,Exact +GARD:0018706,SNOMED-CT,770408001,NA +GARD:0018706,ICD-10,Q06.8,NTBT +GARD:0018707,SNOMED-CT,17920008,NA +GARD:0018707,Orphanet,854,Exact +GARD:0018707,UMLS,C0155773,Exact +GARD:0018707,MedDRA,10036206,Exact +GARD:0018707,ICD-10,I81,Exact +GARD:0018708,SNOMED-CT,73893000,NA +GARD:0018708,Orphanet,858,Exact +GARD:0018708,MedDRA,10010652,Exact +GARD:0018708,ICD-10,P37.1,Exact +GARD:0018708,ICD-11,KA64.0,Exact +GARD:0018708,MeSH,D014125,Exact +GARD:0018708,UMLS,C0040560,Exact +GARD:0018709,SNOMED-CT,715403006,NA +GARD:0018709,Orphanet,874,Exact +GARD:0018709,ICD-10,D15.1,NTBT +GARD:0018709,ICD-10,C38.0,NTBT +GARD:0018710,SNOMED-CT,716661006,NA +GARD:0018710,Orphanet,875,Exact +GARD:0018710,ICD-10,D15.1,NTBT +GARD:0018710,ICD-10,C38.0,NTBT +GARD:0018711,Orphanet,883,Exact +GARD:0018711,ICD-10,D48.7,NTBT +GARD:0018711,MeSH,D013724,Exact +GARD:0018711,UMLS,C0039538,Exact +GARD:0018711,MedDRA,10043276,Exact +GARD:0018711,SNOMED-CT,768937006,NA +GARD:0018712,SNOMED-CT,86252004,NA +GARD:0018712,Orphanet,980,Exact +GARD:0018712,ICD-10,Q25.7,NTBT +GARD:0018713,SNOMED-CT,783205005,NA +GARD:0018713,Orphanet,1006,Exact +GARD:0018713,ICD-10,D80.8,NTBT +GARD:0018714,Orphanet,1047,Exact +GARD:0018714,ICD-10,D64.2,BTNT +GARD:0018714,ICD-10,D64.0,BTNT +GARD:0018714,MedDRA,10040661,Exact +GARD:0018714,SNOMED-CT,41841004,NA +GARD:0018714,ICD-10,D64.1,BTNT +GARD:0018714,ICD-10,D64.3,BTNT +GARD:0018714,MeSH,D000756,Exact +GARD:0018714,UMLS,C0002896,Exact +GARD:0018715,SNOMED-CT,715406003,NA +GARD:0018715,Orphanet,1084,Exact +GARD:0018715,ICD-10,Q04.3,NTBT +GARD:0018716,Orphanet,1121,Exact +GARD:0018716,ICD-10,Q73.8,NTBT +GARD:0018716,SNOMED-CT,783137003,NA +GARD:0018717,Orphanet,1138,Exact +GARD:0018717,ICD-10,Q25.7,NTBT +GARD:0018717,SNOMED-CT,68092007,NA +GARD:0018718,Orphanet,1172,Exact +GARD:0018719,Orphanet,1349,Exact +GARD:0018719,ICD-10,E88.8,NTBT +GARD:0018719,SNOMED-CT,724173009,NA +GARD:0018720,SNOMED-CT,253172000,NA +GARD:0018720,Orphanet,1398,Exact +GARD:0018720,UMLS,C0344488,Exact +GARD:0018720,ICD-10,Q04.3,NTBT +GARD:0018720,MedDRA,10008033,Exact +GARD:0018720,UMLS,C0266470,Exact +GARD:0018721,Orphanet,1431,Exact +GARD:0018721,ICD-10,G24.8,NTBT +GARD:0018721,MeSH,D002819,Exact +GARD:0018721,UMLS,C0752210,Exact +GARD:0018722,Orphanet,1455,Exact +GARD:0018722,UMLS,C2930803,Exact +GARD:0018722,MeSH,C531623,Exact +GARD:0018722,ICD-10,Q25.1,NTBT +GARD:0018723,SNOMED-CT,253679008,NA +GARD:0018723,Orphanet,1456,Exact +GARD:0018723,ICD-10,Q25.1,NTBT +GARD:0018723,UMLS,C3805239,Exact +GARD:0018724,Orphanet,1461,Exact +GARD:0018724,ICD-10,Q24.8,NTBT +GARD:0018724,UMLS,C0010334,Exact +GARD:0018724,SNOMED-CT,253269002,NA +GARD:0018725,SNOMED-CT,45503006,NA +GARD:0018725,Orphanet,1464,Exact +GARD:0018725,MedDRA,10045545,Exact +GARD:0018725,ICD-10,Q20.4,Exact +GARD:0018726,SNOMED-CT,205484001,NA +GARD:0018726,Orphanet,1505,Exact +GARD:0018726,UMLS,C0036996,Exact +GARD:0018726,ICD-11,LD24.B0,Exact +GARD:0018726,ICD-10,Q77.2,NTBT +GARD:0018726,MeSH,D012779,Exact +GARD:0018727,SNOMED-CT,783004003,NA +GARD:0018727,Orphanet,1506,Exact +GARD:0018727,ICD-10,Q87.5,NTBT +GARD:0018727,UMLS,C2931543,Exact +GARD:0018728,Orphanet,1544,Exact +GARD:0018728,ICD-10,G40.8,NTBT +GARD:0018728,SNOMED-CT,715425000,NA +GARD:0018729,Orphanet,1581,Exact +GARD:0018729,ICD-10,Q93.5,NTBT +GARD:0018729,SNOMED-CT,770665005,NA +GARD:0018730,Orphanet,1627,Exact +GARD:0018730,ICD-10,Q93.5,NTBT +GARD:0018730,SNOMED-CT,721158009,NA +GARD:0018731,SNOMED-CT,763529005,NA +GARD:0018731,Orphanet,1636,Exact +GARD:0018731,ICD-10,Q93.5,NTBT +GARD:0018732,Orphanet,1642,Exact +GARD:0018732,ICD-10,Q93.5,NTBT +GARD:0018732,SNOMED-CT,763530000,NA +GARD:0018733,Orphanet,1643,Exact +GARD:0018733,ICD-10,Q99.8,NTBT +GARD:0018733,SNOMED-CT,726733007,NA +GARD:0018734,SNOMED-CT,763717004,NA +GARD:0018734,Orphanet,1665,Exact +GARD:0018734,ICD-10,Q02,NTBT +GARD:0018735,SNOMED-CT,716773002,NA +GARD:0018735,Orphanet,1677,Exact +GARD:0018735,ICD-10,Q20.8,NTBT +GARD:0018736,Orphanet,1692,Exact +GARD:0018736,ICD-10,Q92.1,NTBT +GARD:0018737,SNOMED-CT,770666006,NA +GARD:0018737,Orphanet,1695,Exact +GARD:0018737,ICD-10,Q92.3,NTBT +GARD:0018737,UMLS,C2936831,Exact +GARD:0018738,Orphanet,1702,Exact +GARD:0018738,ICD-10,Q92.3,NTBT +GARD:0018738,SNOMED-CT,764996009,NA +GARD:0018739,Orphanet,1705,Exact +GARD:0018739,ICD-10,Q92.3,NTBT +GARD:0018739,MeSH,C538034,Exact +GARD:0018739,UMLS,C2931702,Exact +GARD:0018739,SNOMED-CT,20348002,NA +GARD:0018740,Orphanet,1707,Exact +GARD:0018740,MeSH,C538036,Exact +GARD:0018740,UMLS,C2931705,Exact +GARD:0018740,ICD-10,Q92.3,NTBT +GARD:0018741,SNOMED-CT,764621006,NA +GARD:0018741,Orphanet,1708,Exact +GARD:0018741,ICD-10,Q92.1,NTBT +GARD:0018742,SNOMED-CT,782676009,NA +GARD:0018742,Orphanet,1716,Exact +GARD:0018742,ICD-10,Q92.3,NTBT +GARD:0018743,SNOMED-CT,766052008,NA +GARD:0018743,Orphanet,1717,Exact +GARD:0018743,ICD-10,Q92.3,NTBT +GARD:0018744,Orphanet,1724,Exact +GARD:0018744,ICD-10,Q92.1,NTBT +GARD:0018744,SNOMED-CT,764624003,NA +GARD:0018745,Orphanet,1745,Exact +GARD:0018745,ICD-10,Q92.3,NTBT +GARD:0018745,SNOMED-CT,722430008,NA +GARD:0018746,SNOMED-CT,720953006,NA +GARD:0018746,Orphanet,1757,Exact +GARD:0018746,ICD-10,Q74.8,NTBT +GARD:0018747,Orphanet,1772,Exact +GARD:0018747,SNOMED-CT,83579008,NA +GARD:0018747,ICD-10,Q98.7,NTBT +GARD:0018748,Orphanet,1851,Exact +GARD:0018748,ICD-10,Q61.4,NTBT +GARD:0018748,MeSH,D021782,Exact +GARD:0018748,UMLS,C3714581,Exact +GARD:0018748,UMLS,C0345335,Exact +GARD:0018748,ICD-11,LB30.9,Exact +GARD:0018749,Orphanet,1866,Exact +GARD:0018749,ICD-10,G24.4,NTBT +GARD:0018749,ICD-10,G24.5,NTBT +GARD:0018749,ICD-10,G24.8,NTBT +GARD:0018749,ICD-10,G24.3,NTBT +GARD:0018750,Orphanet,1913,Exact +GARD:0018750,UMLS,C0265373,Exact +GARD:0018750,MeSH,C537798,Exact +GARD:0018750,ICD-10,Q86.8,NTBT +GARD:0018750,SNOMED-CT,66351003,NA +GARD:0018751,Orphanet,1920,Exact +GARD:0018751,ICD-10,Q86.8,NTBT +GARD:0018751,SNOMED-CT,254254006,NA +GARD:0018752,Orphanet,1929,Exact +GARD:0018752,MeSH,C535291,Exact +GARD:0018752,UMLS,C2930868,Exact +GARD:0018752,UMLS,C0393484,Exact +GARD:0018752,ICD-10,G04.8,NTBT +GARD:0018752,SNOMED-CT,230191005,NA +GARD:0018753,SNOMED-CT,253103006,NA +GARD:0018753,Orphanet,1931,Exact +GARD:0018753,ICD-10,Q01.0,Exact +GARD:0018753,UMLS,C0431289,Exact +GARD:0018753,ICD-11,LA01,NTBT +GARD:0018754,Orphanet,1991,Exact +GARD:0018754,ICD-10,Q37.9,BTNT +GARD:0018754,UMLS,C0008924,Exact +GARD:0018754,ICD-10,Q37.0,BTNT +GARD:0018754,ICD-10,Q37.3,BTNT +GARD:0018754,ICD-10,Q37.2,BTNT +GARD:0018754,ICD-10,Q37.4,BTNT +GARD:0018754,ICD-10,Q36.0,BTNT +GARD:0018754,ICD-10,Q36.9,BTNT +GARD:0018754,ICD-10,Q37.1,BTNT +GARD:0018754,ICD-10,Q36.1,BTNT +GARD:0018754,ICD-10,Q37.8,BTNT +GARD:0018754,ICD-10,Q37.5,BTNT +GARD:0018755,Orphanet,2003,Exact +GARD:0018755,ICD-10,Q87.8,NTBT +GARD:0018755,SNOMED-CT,716007007,NA +GARD:0018756,Orphanet,2006,Exact +GARD:0018756,SNOMED-CT,723383005,NA +GARD:0018756,ICD-10,Q36.1,NTBT +GARD:0018757,Orphanet,2034,Exact +GARD:0018757,ICD-10,B74.8,Exact +GARD:0018757,ICD-10,B74.1,Exact +GARD:0018757,ICD-10,B74.9,Exact +GARD:0018757,ICD-10,B74.4,Exact +GARD:0018757,ICD-11,1F66,Exact +GARD:0018757,UMLS,C0016085,Exact +GARD:0018757,MedDRA,10016674,Exact +GARD:0018757,ICD-10,B74.2,Exact +GARD:0018757,ICD-10,B74.0,Exact +GARD:0018757,ICD-10,B74.3,Exact +GARD:0018757,MeSH,D005368,Exact +GARD:0018758,SNOMED-CT,786041005,NA +GARD:0018758,Orphanet,2039,Exact +GARD:0018758,ICD-10,Q27.3,NTBT +GARD:0018759,SNOMED-CT,719268008,NA +GARD:0018759,Orphanet,2062,Exact +GARD:0018759,ICD-10,Q87.8,NTBT +GARD:0018760,Orphanet,2104,Exact +GARD:0018760,SNOMED-CT,733038005,NA +GARD:0018760,ICD-10,Q87.8,NTBT +GARD:0018761,Orphanet,2130,Exact +GARD:0018761,MedDRA,10019464,Exact +GARD:0018761,ICD-10,Q72.8,NTBT +GARD:0018761,UMLS,C0018987,Exact +GARD:0018761,ICD-10,Q71.8,NTBT +GARD:0018761,ICD-10,Q73.8,NTBT +GARD:0018762,Orphanet,2145,Exact +GARD:0018762,ICD-10,Q75.0,NTBT +GARD:0018762,SNOMED-CT,763684005,NA +GARD:0018763,Orphanet,2266,Exact +GARD:0018763,SNOMED-CT,723365002,NA +GARD:0018764,Orphanet,2282,Exact +GARD:0018764,ICD-10,Q87.8,NTBT +GARD:0018764,SNOMED-CT,733050004,NA +GARD:0018765,Orphanet,2305,Exact +GARD:0018765,UMLS,C2930972,Exact +GARD:0018765,UMLS,C0432364,Exact +GARD:0018765,ICD-10,Q86.8,NTBT +GARD:0018766,Orphanet,2325,Exact +GARD:0018766,ICD-10,Q81.0,NTBT +GARD:0018766,UMLS,C0432313,Exact +GARD:0018766,SNOMED-CT,254177003,NA +GARD:0018767,Orphanet,2326,Exact +GARD:0018767,ICD-10,Q24.8,NTBT +GARD:0018767,SNOMED-CT,722027009,NA +GARD:0018768,Orphanet,2338,Exact +GARD:0018768,ICD-10,Q82.8,NTBT +GARD:0018768,UMLS,C1274216,Exact +GARD:0018769,Orphanet,2416,Exact +GARD:0018770,Orphanet,2420,Exact +GARD:0018770,ICD-10,C85.7,NTBT +GARD:0018770,MedDRA,10037418,Exact +GARD:0018770,UMLS,C0519063,Exact +GARD:0018770,SNOMED-CT,718200007,NA +GARD:0018771,Orphanet,2443,Exact +GARD:0018772,SNOMED-CT,111318005,NA +GARD:0018772,Orphanet,2444,Exact +GARD:0018772,ICD-10,Q33.0,NTBT +GARD:0018772,UMLS,C0158641,Exact +GARD:0018772,ICD-11,LA75.4,Exact +GARD:0018772,UMLS,C0010668,Exact +GARD:0018773,Orphanet,2487,Exact +GARD:0018773,UMLS,C2930962,Exact +GARD:0018773,SNOMED-CT,770561007,NA +GARD:0018774,Orphanet,2519,Exact +GARD:0018774,UMLS,C2931529,Exact +GARD:0018774,ICD-10,Q87.8,NTBT +GARD:0018774,MeSH,C537544,Exact +GARD:0018774,SNOMED-CT,723304001,NA +GARD:0018775,Orphanet,2582,Exact +GARD:0018775,UMLS,C1275050,Exact +GARD:0018775,MeSH,D016603,Exact +GARD:0018775,ICD-10,M35.8,NTBT +GARD:0018775,MedDRA,10014952,Exact +GARD:0018775,SNOMED-CT,403735006,NA +GARD:0018776,SNOMED-CT,722108000,NA +GARD:0018776,Orphanet,2653,Exact +GARD:0018777,SNOMED-CT,733650000,NA +GARD:0018777,Orphanet,2666,Exact +GARD:0018777,ICD-10,Q61.8,NTBT +GARD:0018778,Orphanet,2787,Exact +GARD:0018778,SNOMED-CT,716189005,NA +GARD:0018779,Orphanet,2846,Exact +GARD:0018779,ICD-10,Q24.8,NTBT +GARD:0018779,UMLS,C0685699,Exact +GARD:0018779,ICD-11,LA8D,Exact +GARD:0018779,SNOMED-CT,93018000,NA +GARD:0018780,SNOMED-CT,724068001,NA +GARD:0018780,Orphanet,2847,Exact +GARD:0018781,Orphanet,2907,Exact +GARD:0018781,ICD-10,Q82.8,NTBT +GARD:0018781,UMLS,C0406556,Exact +GARD:0018781,SNOMED-CT,238835001,NA +GARD:0018782,Orphanet,2973,Exact +GARD:0018782,ICD-10,Q56.2,NTBT +GARD:0018782,SNOMED-CT,733622000,NA +GARD:0018783,Orphanet,2982,Exact +GARD:0018783,UMLS,C2936403,Exact +GARD:0018783,ICD-10,Q56.2,NTBT +GARD:0018783,UMLS,C0238394,Exact +GARD:0018783,MeSH,D058489,Exact +GARD:0018784,Orphanet,3004,Exact +GARD:0018784,SNOMED-CT,715523005,NA +GARD:0018784,ICD-10,Q87.2,NTBT +GARD:0018785,Orphanet,3091,Exact +GARD:0018786,Orphanet,3093,Exact +GARD:0018786,ICD-10,Q23.0,Exact +GARD:0018786,UMLS,C0152417,Exact +GARD:0018786,MedDRA,10010371,Exact +GARD:0018786,ICD-11,LA8A.20,Exact +GARD:0018786,SNOMED-CT,18546004,NA +GARD:0018787,Orphanet,3151,Exact +GARD:0018787,ICD-10,G37.8,NTBT +GARD:0018787,SNOMED-CT,733028000,NA +GARD:0018788,Orphanet,3225,Exact +GARD:0018788,ICD-10,E34.8,NTBT +GARD:0018788,UMLS,C2931369,Exact +GARD:0018788,SNOMED-CT,716239006,NA +GARD:0018789,SNOMED-CT,726669007,NA +GARD:0018789,Orphanet,3240,Exact +GARD:0018790,Orphanet,3276,Exact +GARD:0018791,Orphanet,3293,Exact +GARD:0018791,SNOMED-CT,733067006,NA +GARD:0018792,Orphanet,3309,Exact +GARD:0018792,ICD-10,Q99.8,NTBT +GARD:0018792,SNOMED-CT,766755003,NA +GARD:0018793,Orphanet,3343,Exact +GARD:0018793,MeSH,D014120,Exact +GARD:0018793,ICD-10,B83.0,Exact +GARD:0018793,UMLS,C0040553,Exact +GARD:0018793,ICD-11,1F6D,Exact +GARD:0018793,MedDRA,10044269,Exact +GARD:0018793,SNOMED-CT,406619001,NA +GARD:0018794,SNOMED-CT,766051001,NA +GARD:0018794,Orphanet,3379,Exact +GARD:0018794,UMLS,C2931247,Exact +GARD:0018794,ICD-10,Q92.3,NTBT +GARD:0018794,MeSH,C536579,Exact +GARD:0018795,Orphanet,3386,Exact +GARD:0018795,ICD-10,B57.0,BTNT +GARD:0018795,UMLS,C0041234,Exact +GARD:0018795,ICD-10,B57.5,BTNT +GARD:0018795,ICD-10,B57.1,BTNT +GARD:0018795,ICD-10,B57.2,BTNT +GARD:0018795,MedDRA,10001935,Exact +GARD:0018795,ICD-10,B57.4,BTNT +GARD:0018795,ICD-10,B57.3,BTNT +GARD:0018795,SNOMED-CT,77506005,NA +GARD:0018796,Orphanet,3388,Exact +GARD:0018797,Orphanet,3399,Exact +GARD:0018797,UMLS,C0740345,Exact +GARD:0018798,SNOMED-CT,253649001,NA +GARD:0018798,Orphanet,3400,Exact +GARD:0018798,ICD-10,Q20.8,NTBT +GARD:0018799,Orphanet,26349,Exact +GARD:0018799,UMLS,C2363755,Exact +GARD:0018799,ICD-10,D68.8,NTBT +GARD:0018799,MedDRA,10068370,Exact +GARD:0018799,SNOMED-CT,439125003,NA +GARD:0018800,SNOMED-CT,238662007,NA +GARD:0018800,Orphanet,31142,Exact +GARD:0018800,ICD-10,L43.8,NTBT +GARD:0018800,ICD-11,EA91.41,Exact +GARD:0018801,Orphanet,31153,Exact +GARD:0018801,ICD-11,5C81.0,Exact +GARD:0018801,MeSH,D052456,Exact +GARD:0018801,ICD-10,E78.6,NTBT +GARD:0018801,UMLS,C0473527,Exact +GARD:0018801,SNOMED-CT,190785000,NA +GARD:0018801,MedDRA,10065156,Exact +GARD:0018802,SNOMED-CT,190786004,NA +GARD:0018802,Orphanet,31154,Exact +GARD:0018802,ICD-11,5C81.1,Exact +GARD:0018802,UMLS,C0020597,Exact +GARD:0018802,MeSH,D006995,Exact +GARD:0018802,ICD-10,E78.6,NTBT +GARD:0018803,Orphanet,31824,Exact +GARD:0018803,ICD-10,T50.4,NTBT +GARD:0018803,SNOMED-CT,24354007,NA +GARD:0018804,SNOMED-CT,212809004,NA +GARD:0018804,Orphanet,31825,Exact +GARD:0018804,ICD-11,NE61,NTBT +GARD:0018804,ICD-10,T51.1,Exact +GARD:0018805,Orphanet,31826,Exact +GARD:0018805,UMLS,C0413194,Exact +GARD:0018805,ICD-10,T52.8,NTBT +GARD:0018805,SNOMED-CT,426692001,NA +GARD:0018806,Orphanet,31827,Exact +GARD:0018806,ICD-10,T60.3,NTBT +GARD:0018806,SNOMED-CT,75017004,NA +GARD:0018807,Orphanet,31828,Exact +GARD:0018807,ICD-10,T46.0,NTBT +GARD:0018807,SNOMED-CT,12876009,NA +GARD:0018808,Orphanet,33408,Exact +GARD:0018808,ICD-10,L43.1,Exact +GARD:0018808,ICD-11,EA91.Y,NTBT +GARD:0018808,UMLS,C0023648,Exact +GARD:0018808,MedDRA,10056960,Exact +GARD:0018808,SNOMED-CT,6111009,NA +GARD:0018809,SNOMED-CT,192644005,NA +GARD:0018809,Orphanet,33475,Exact +GARD:0018809,ICD-11,1C1C.0,Exact +GARD:0018809,ICD-10,A39.0+,Exact +GARD:0018809,MeSH,D008585,Exact +GARD:0018809,ICD-10,G01*,Exact +GARD:0018809,UMLS,C0025294,Exact +GARD:0018809,MedDRA,10027249,Exact +GARD:0018810,Orphanet,34533,Exact +GARD:0018810,MeSH,D003317,Exact +GARD:0018810,ICD-10,H18.5,Exact +GARD:0018810,MedDRA,10011005,Exact +GARD:0018810,UMLS,C0010036,Exact +GARD:0018810,UMLS,C0010035,Exact +GARD:0018810,ICD-11,9A70,Exact +GARD:0018811,Orphanet,35062,Exact +GARD:0018811,ICD-10,B25.8,NTBT +GARD:0018812,Orphanet,35063,Exact +GARD:0018812,ICD-10,K72,NTBT +GARD:0018812,SNOMED-CT,45042004,NA +GARD:0018813,SNOMED-CT,239112008,NA +GARD:0018813,Orphanet,35125,Exact +GARD:0018813,MedDRA,10014985,Exact +GARD:0018813,MeSH,D054000,Exact +GARD:0018813,UMLS,C0334082,Exact +GARD:0018813,MeSH,C536114,Exact +GARD:0018813,ICD-10,Q85.8,NTBT +GARD:0018814,Orphanet,35696,Exact +GARD:0018815,Orphanet,35705,Exact +GARD:0018815,ICD-10,E72.8,NTBT +GARD:0018816,SNOMED-CT,254860001,NA +GARD:0018816,Orphanet,35808,Exact +GARD:0018816,ICD-10,C56,NTBT +GARD:0018817,Orphanet,35889,Exact +GARD:0018817,ICD-10,T40.0,BTNT +GARD:0018817,ICD-10,T40.2,BTNT +GARD:0018817,ICD-10,T40.1,BTNT +GARD:0018817,SNOMED-CT,77721001,NA +GARD:0018818,Orphanet,35981,Exact +GARD:0018818,ICD-10,Q04.3,NTBT +GARD:0018818,ICD-11,LA05.50,Exact +GARD:0018818,SNOMED-CT,4945003,NA +GARD:0018818,UMLS,C0266464,Exact +GARD:0018819,Orphanet,36235,Exact +GARD:0018819,ICD-11,EA50.3,Exact +GARD:0018819,ICD-10,A38,NTBT +GARD:0018820,SNOMED-CT,399183005,NA +GARD:0018820,Orphanet,36237,Exact +GARD:0018820,ICD-11,1B72.0,Exact +GARD:0018820,UMLS,C0021100,Exact +GARD:0018820,MedDRA,10006563,Exact +GARD:0018820,ICD-10,L01.0,NTBT +GARD:0018821,Orphanet,36238,Exact +GARD:0018821,ICD-10,J15.2,NTBT +GARD:0018821,SNOMED-CT,763888005,NA +GARD:0018822,Orphanet,36273,Exact +GARD:0018822,ICD-10,C16.9,NTBT +GARD:0018822,SNOMED-CT,721629005,NA +GARD:0018823,Orphanet,36382,Exact +GARD:0018823,ICD-10,I72.0,NTBT +GARD:0018823,SNOMED-CT,778061001,NA +GARD:0018823,ICD-10,I72.5,NTBT +GARD:0018824,Orphanet,36913,Exact +GARD:0018824,UMLS,C0271865,Exact +GARD:0018824,ICD-10,E20.8,NTBT +GARD:0018824,ICD-11,5A50.03,Exact +GARD:0018824,SNOMED-CT,75316000,NA +GARD:0018825,SNOMED-CT,197834003,NA +GARD:0018825,Orphanet,37202,Exact +GARD:0018825,ICD-10,N30.1,Exact +GARD:0018825,MeSH,D018856,Exact +GARD:0018825,UMLS,C0600040,Exact +GARD:0018825,UMLS,C3160917,Exact +GARD:0018825,ICD-11,GC00.3,Exact +GARD:0018825,UMLS,C1720830,Exact +GARD:0018825,MedDRA,10011796,Exact +GARD:0018825,UMLS,C0282488,Exact +GARD:0018826,Orphanet,37559,Exact +GARD:0018826,ICD-10,L67.8,NTBT +GARD:0018826,SNOMED-CT,77039003,NA +GARD:0018827,Orphanet,40366,Exact +GARD:0018827,ICD-10,Q86.8,NTBT +GARD:0018827,SNOMED-CT,725287006,NA +GARD:0018828,SNOMED-CT,371089000,NA +GARD:0018828,Orphanet,43116,Exact +GARD:0018828,MedDRA,10040108,Exact +GARD:0018828,UMLS,C0699828,Exact +GARD:0018828,ICD-10,G90.8,NTBT +GARD:0018828,MeSH,D020230,Exact +GARD:0018829,Orphanet,43117,Exact +GARD:0018829,ICD-10,T43.0,NTBT +GARD:0018830,Orphanet,43119,Exact +GARD:0018831,SNOMED-CT,715560009,NA +GARD:0018831,Orphanet,45452,Exact +GARD:0018831,ICD-10,P29.1,NTBT +GARD:0018832,SNOMED-CT,233908008,NA +GARD:0018832,Orphanet,45453,Exact +GARD:0018832,UMLS,C0340487,Exact +GARD:0018832,ICD-10,I47.2,NTBT +GARD:0018833,Orphanet,46485,Exact +GARD:0018833,ICD-10,L10.3,BTNT +GARD:0018833,ICD-10,L10.4,BTNT +GARD:0018833,ICD-10,L10.2,BTNT +GARD:0018834,SNOMED-CT,95330001,NA +GARD:0018834,Orphanet,46488,Exact +GARD:0018834,ICD-10,L10.8,NTBT +GARD:0018834,UMLS,C0406650,Exact +GARD:0018834,MedDRA,10024515,Exact +GARD:0018834,ICD-11,EB42,Exact +GARD:0018835,Orphanet,48435,Exact +GARD:0018835,ICD-10,I77.6,NTBT +GARD:0018835,SNOMED-CT,724063005,NA +GARD:0018836,Orphanet,48736,Exact +GARD:0018836,ICD-10,C71.9,NTBT +GARD:0018837,Orphanet,48918,Exact +GARD:0018837,UMLS,C0751357,Exact +GARD:0018837,ICD-10,M60.8,NTBT +GARD:0018838,Orphanet,49566,Exact +GARD:0018838,UMLS,C0085650,Exact +GARD:0018838,MeSH,D014884,Exact +GARD:0018838,MeSH,D055665,Exact +GARD:0018838,ICD-10,D65,NTBT +GARD:0018838,UMLS,C0043068,Exact +GARD:0018838,MedDRA,10037556,Exact +GARD:0018838,SNOMED-CT,725157006,NA +GARD:0018839,SNOMED-CT,718105008,NA +GARD:0018839,Orphanet,49804,Exact +GARD:0018839,ICD-10,E85.4+,NTBT +GARD:0018839,ICD-10,L99.0*,NTBT +GARD:0018840,Orphanet,50810,Exact +GARD:0018840,SNOMED-CT,723405001,NA +GARD:0018840,ICD-10,Q04.3,NTBT +GARD:0018841,SNOMED-CT,718880003,NA +GARD:0018841,Orphanet,50812,Exact +GARD:0018841,ICD-10,Q87.8,NTBT +GARD:0018842,SNOMED-CT,722432000,NA +GARD:0018842,Orphanet,50817,Exact +GARD:0018843,Orphanet,51890,Exact +GARD:0018843,ICD-10,G58.0,NTBT +GARD:0018844,Orphanet,52759,Exact +GARD:0018844,MeSH,D014657,Exact +GARD:0018844,MeSH,D056647,Exact +GARD:0018844,MedDRA,10036023,Exact +GARD:0018844,UMLS,C0264939,Exact +GARD:0018844,MedDRA,10047115,Exact +GARD:0018844,UMLS,C0042384,Exact +GARD:0018844,SNOMED-CT,31996006,NA +GARD:0018845,SNOMED-CT,719045009,NA +GARD:0018845,Orphanet,52994,Exact +GARD:0018845,ICD-10,D31.6,NTBT +GARD:0018846,SNOMED-CT,715574002,NA +GARD:0018846,Orphanet,54247,Exact +GARD:0018846,ICD-11,8A21.0,Exact +GARD:0018846,ICD-10,G31.1,NTBT +GARD:0018847,Orphanet,54272,Exact +GARD:0018847,ICD-10,D13.4,NTBT +GARD:0018847,UMLS,C0206669,Exact +GARD:0018847,MedDRA,10019827,Exact +GARD:0018847,MeSH,D018248,Exact +GARD:0018847,SNOMED-CT,1156419009,NA +GARD:0018848,SNOMED-CT,88905005,NA +GARD:0018848,Orphanet,54368,Exact +GARD:0018848,MedDRA,10039483,Exact +GARD:0018848,ICD-10,A07.8,NTBT +GARD:0018848,UMLS,C0036231,Exact +GARD:0018848,MeSH,D012523,Exact +GARD:0018849,Orphanet,55655,Exact +GARD:0018849,ICD-11,1B53,NTBT +GARD:0018849,MeSH,D008586,Exact +GARD:0018849,MedDRA,10027253,Exact +GARD:0018849,ICD-10,G00.1,Exact +GARD:0018849,UMLS,C0025295,Exact +GARD:0018849,SNOMED-CT,51169003,NA +GARD:0018850,Orphanet,56044,Exact +GARD:0018850,UMLS,C0153452,Exact +GARD:0018850,UMLS,C0235782,Exact +GARD:0018850,MedDRA,10007426,Exact +GARD:0018850,SNOMED-CT,372140005,NA +GARD:0018851,Orphanet,56970,Exact +GARD:0018851,ICD-10,A81.8,BTNT +GARD:0018851,ICD-10,A81.9,BTNT +GARD:0018851,ICD-10,A81.0,BTNT +GARD:0018851,ICD-10,A81.1,BTNT +GARD:0018851,UMLS,C0162534,Exact +GARD:0018852,Orphanet,57777,Exact +GARD:0018852,ICD-10,I42.8,NTBT +GARD:0018852,SNOMED-CT,725416005,NA +GARD:0018853,SNOMED-CT,699251001,NA +GARD:0018853,Orphanet,57782,Exact +GARD:0018853,ICD-10,M85.0,NTBT +GARD:0018854,SNOMED-CT,307605009,NA +GARD:0018854,Orphanet,58040,Exact +GARD:0018854,MeSH,D018215,Exact +GARD:0018854,ICD-10,D16.6,BTNT +GARD:0018854,ICD-10,D16.0,BTNT +GARD:0018854,ICD-10,D16.1,BTNT +GARD:0018854,MedDRA,10004430,Exact +GARD:0018854,ICD-10,D16.7,BTNT +GARD:0018854,ICD-10,D16.5,BTNT +GARD:0018854,ICD-10,D16.3,BTNT +GARD:0018854,ICD-10,D16.8,BTNT +GARD:0018854,ICD-10,D16.4,BTNT +GARD:0018854,UMLS,C0029417,Exact +GARD:0018855,SNOMED-CT,442300000,NA +GARD:0018855,Orphanet,59315,Exact +GARD:0018855,UMLS,C1866130,Exact +GARD:0018855,ICD-10,Q04.3,NTBT +GARD:0018856,Orphanet,60014,Exact +GARD:0018856,MeSH,D001129,Exact +GARD:0018856,UMLS,C0003782,Exact +GARD:0018856,MedDRA,10003094,Exact +GARD:0018856,ICD-10,T56.8,NTBT +GARD:0018856,SNOMED-CT,89629006,NA +GARD:0018857,Orphanet,63443,Exact +GARD:0018857,MedDRA,10017758,Exact +GARD:0018857,UMLS,C0024623,Exact +GARD:0018858,Orphanet,63455,Exact +GARD:0018858,UMLS,C1112570,Exact +GARD:0018858,ICD-11,EB40.2,Exact +GARD:0018858,MedDRA,10057056,Exact +GARD:0018858,ICD-10,L10.8,NTBT +GARD:0018858,SNOMED-CT,402718003,NA +GARD:0018859,Orphanet,64542,Exact +GARD:0018859,ICD-10,Q75.4,NTBT +GARD:0018859,SNOMED-CT,720427009,NA +GARD:0018860,Orphanet,64545,Exact +GARD:0018860,ICD-10,G40.3,NTBT +GARD:0018861,Orphanet,64692,Exact +GARD:0018861,MeSH,D001474,Exact +GARD:0018861,UMLS,C0348974,Exact +GARD:0018861,SNOMED-CT,240453002,NA +GARD:0018861,ICD-10,A44.0,Exact +GARD:0018861,UMLS,C0029307,Exact +GARD:0018861,ICD-11,1C11.00,Exact +GARD:0018862,Orphanet,64694,Exact +GARD:0018862,ICD-11,1C11.1,Exact +GARD:0018862,MeSH,D014205,Exact +GARD:0018862,UMLS,C0040830,Exact +GARD:0018862,MedDRA,10044582,Exact +GARD:0018862,ICD-10,A79.0,Exact +GARD:0018862,SNOMED-CT,82214002,NA +GARD:0018863,SNOMED-CT,237444008,NA +GARD:0018863,Orphanet,64722,Exact +GARD:0018863,MeSH,D058890,Exact +GARD:0018863,ICD-10,N61,NTBT +GARD:0018863,UMLS,C0405469,Exact +GARD:0018864,SNOMED-CT,189815007,NA +GARD:0018864,Orphanet,64741,Exact +GARD:0018864,ICD-10,C34.2,ND (not yet decided/unable to decide) +GARD:0018864,ICD-10,C34.1,ND (not yet decided/unable to decide) +GARD:0018864,ICD-10,C34.3,ND (not yet decided/unable to decide) +GARD:0018864,ICD-10,C34.9,ND (not yet decided/unable to decide) +GARD:0018864,ICD-10,C34.8,ND (not yet decided/unable to decide) +GARD:0018864,UMLS,C0206629,Exact +GARD:0018864,MeSH,D018202,Exact +GARD:0018865,SNOMED-CT,718096004,NA +GARD:0018865,Orphanet,64743,Exact +GARD:0018865,ICD-10,K74.1,NTBT +GARD:0018866,SNOMED-CT,89024000,NA +GARD:0018866,Orphanet,64744,Exact +GARD:0018866,MedDRA,10039142,Exact +GARD:0018866,ICD-10,E06.5,NTBT +GARD:0018866,UMLS,C0154162,Exact +GARD:0018867,Orphanet,65681,Exact +GARD:0018867,MedDRA,10046879,Exact +GARD:0018867,ICD-10,Q52.0,NTBT +GARD:0018867,UMLS,C1321884,Exact +GARD:0018867,ICD-11,LB42.5,Exact +GARD:0018867,SNOMED-CT,10736081000119100,NA +GARD:0018868,SNOMED-CT,721069005,NA +GARD:0018868,Orphanet,66518,Exact +GARD:0018868,ICD-10,E13,NTBT +GARD:0018869,SNOMED-CT,723721007,NA +GARD:0018869,Orphanet,66633,Exact +GARD:0018869,ICD-10,H90.3,NTBT +GARD:0018870,SNOMED-CT,118615008,NA +GARD:0018870,Orphanet,66661,Exact +GARD:0018870,ICD-10,C96.2,NTBT +GARD:0018870,MeSH,D012515,Exact +GARD:0018870,ICD-11,2A21.2,Exact +GARD:0018870,UMLS,C0036221,Exact +GARD:0018871,Orphanet,66662,Exact +GARD:0018871,ICD-10,C96.2,NTBT +GARD:0018871,ICD-11,2A21.3,Exact +GARD:0018871,UMLS,C0272202,Exact +GARD:0018871,SNOMED-CT,63175003,NA +GARD:0018872,Orphanet,67039,Exact +GARD:0018872,ICD-10,K00.4,NTBT +GARD:0018872,SNOMED-CT,699756005,NA +GARD:0018873,Orphanet,68334,Exact +GARD:0018874,SNOMED-CT,409709004,NA +GARD:0018874,Orphanet,68335,Exact +GARD:0018874,UMLS,C0008625,Exact +GARD:0018874,UMLS,C0008626,Exact +GARD:0018874,MeSH,D002869,Exact +GARD:0018875,Orphanet,68336,Exact +GARD:0018876,Orphanet,68341,Exact +GARD:0018877,Orphanet,68346,Exact +GARD:0018877,UMLS,C0037277,Exact +GARD:0018878,Orphanet,68347,Exact +GARD:0018879,SNOMED-CT,39898005,NA +GARD:0018879,Orphanet,68354,Exact +GARD:0018879,UMLS,C0851578,Exact +GARD:0018879,MedDRA,10040984,Exact +GARD:0018879,MeSH,D012893,Exact +GARD:0018880,Orphanet,68361,Exact +GARD:0018880,UMLS,C0581883,Exact +GARD:0018880,UMLS,C3711374,Exact +GARD:0018881,Orphanet,68362,Exact +GARD:0018881,UMLS,C0042373,Exact +GARD:0018882,Orphanet,68363,Exact +GARD:0018882,UMLS,C0393593,Exact +GARD:0018883,Orphanet,68364,Exact +GARD:0018883,ICD-10,D58.0,BTNT +GARD:0018883,ICD-10,D56.1,BTNT +GARD:0018883,ICD-10,D58.8,BTNT +GARD:0018883,UMLS,C0019045,Exact +GARD:0018883,MeSH,D006453,Exact +GARD:0018883,ICD-10,D56.3,BTNT +GARD:0018883,ICD-10,D58.1,BTNT +GARD:0018883,ICD-10,D57.1,BTNT +GARD:0018883,ICD-10,D56.2,BTNT +GARD:0018883,ICD-10,D57.3,BTNT +GARD:0018883,ICD-10,D58.9,BTNT +GARD:0018883,ICD-10,D56.0,BTNT +GARD:0018883,ICD-10,D56.4,BTNT +GARD:0018883,ICD-10,D56.9,BTNT +GARD:0018883,ICD-10,D58.2,BTNT +GARD:0018883,ICD-10,D57.2,BTNT +GARD:0018883,MedDRA,10060892,Exact +GARD:0018883,ICD-10,D56.8,BTNT +GARD:0018883,ICD-10,D57.8,BTNT +GARD:0018883,ICD-10,D57.0,BTNT +GARD:0018883,SNOMED-CT,80141007,NA +GARD:0018884,Orphanet,68366,Exact +GARD:0018885,Orphanet,68373,Exact +GARD:0018885,SNOMED-CT,238059005,NA +GARD:0018885,MeSH,D018901,Exact +GARD:0018885,UMLS,C0282528,Exact +GARD:0018886,Orphanet,68378,Exact +GARD:0018886,SNOMED-CT,60475009,NA +GARD:0018886,UMLS,C0206762,Exact +GARD:0018887,Orphanet,68380,Exact +GARD:0018887,MeSH,D028361,Exact +GARD:0018887,UMLS,C0751651,Exact +GARD:0018887,SNOMED-CT,240096000,NA +GARD:0018888,Orphanet,68381,Exact +GARD:0018888,MeSH,D009468,Exact +GARD:0018888,UMLS,C0027868,Exact +GARD:0018888,MedDRA,10029323,Exact +GARD:0018889,Orphanet,68383,Exact +GARD:0018889,ICD-10,D61.0,NTBT +GARD:0018890,Orphanet,68385,Exact +GARD:0018891,Orphanet,68402,Exact +GARD:0018891,UMLS,C0242422,Exact +GARD:0018892,Orphanet,68411,Exact +GARD:0018892,UMLS,C0005967,Exact +GARD:0018893,Orphanet,68415,Exact +GARD:0018894,Orphanet,68419,Exact +GARD:0018895,Orphanet,69028,Exact +GARD:0018895,ICD-10,Q73.8,NTBT +GARD:0018896,SNOMED-CT,725592009,NA +GARD:0018896,Orphanet,69063,Exact +GARD:0018896,ICD-10,P96.0,NTBT +GARD:0018897,SNOMED-CT,720460007,NA +GARD:0018897,Orphanet,69736,Exact +GARD:0018897,ICD-10,Q13.8,NTBT +GARD:0018898,Orphanet,69744,Exact +GARD:0018898,SNOMED-CT,239073008,NA +GARD:0018899,Orphanet,69745,Exact +GARD:0018899,UMLS,C0334063,Exact +GARD:0018899,MedDRA,10068856,Exact +GARD:0018899,SNOMED-CT,254676008,NA +GARD:0018900,Orphanet,70475,Exact +GARD:0018900,MedDRA,10037766,Exact +GARD:0018900,ICD-11,DB33.42,Exact +GARD:0018900,UMLS,C0400827,Exact +GARD:0018900,ICD-10,K62.7,Exact +GARD:0018900,SNOMED-CT,235760009,NA +GARD:0018901,Orphanet,99977,Exact +GARD:0018901,ICD-10,C15.1,BTNT +GARD:0018901,ICD-10,C15.4,BTNT +GARD:0018901,ICD-10,C15.3,BTNT +GARD:0018901,OMIM,133239,NTBT +GARD:0018901,ICD-10,C15.0,BTNT +GARD:0018901,UMLS,C0279626,Exact +GARD:0018901,SNOMED-CT,276804009,NA +GARD:0018902,Orphanet,70578,Exact +GARD:0018902,ICD-10,J80,Exact +GARD:0018902,ICD-11,CB00,NTBT +GARD:0018903,Orphanet,70596,Exact +GARD:0018903,ICD-10,P35.8,NTBT +GARD:0018903,ICD-11,KA62.1,Exact +GARD:0018903,SNOMED-CT,716660007,NA +GARD:0018904,Orphanet,71198,Exact +GARD:0018905,Orphanet,71202,Exact +GARD:0018905,ICD-10,D69.1,NTBT +GARD:0018906,Orphanet,71203,Exact +GARD:0018906,ICD-10,D69.3,NTBT +GARD:0018906,MedDRA,10050245,Exact +GARD:0018906,UMLS,C0242584,Exact +GARD:0018906,SNOMED-CT,128091003,NA +GARD:0018907,Orphanet,71209,Exact +GARD:0018907,UMLS,C0037579,Exact +GARD:0018908,Orphanet,71213,Exact +GARD:0018908,UMLS,C0730304,Exact +GARD:0018908,SNOMED-CT,312935003,NA +GARD:0018908,ICD-10,D18.0,NTBT +GARD:0018909,SNOMED-CT,721089006,NA +GARD:0018909,Orphanet,71267,Exact +GARD:0018910,Orphanet,71276,Exact +GARD:0018910,UMLS,C3698095,Exact +GARD:0018910,ICD-11,CA0B,Exact +GARD:0018910,ICD-10,J34.8,NTBT +GARD:0018910,SNOMED-CT,699802009,NA +GARD:0018911,Orphanet,71281,Exact +GARD:0018912,Orphanet,71505,Exact +GARD:0018912,UMLS,C1321315,Exact +GARD:0018912,UMLS,C0730307,Exact +GARD:0018912,ICD-10,H35.8,NTBT +GARD:0018912,SNOMED-CT,404663008,NA +GARD:0018913,Orphanet,71518,Exact +GARD:0018913,ICD-10,G24.3,NTBT +GARD:0018913,SNOMED-CT,719521002,NA +GARD:0018914,Orphanet,71519,Exact +GARD:0018914,MedDRA,10072376,Exact +GARD:0018914,ICD-10,F44.4,NTBT +GARD:0018914,UMLS,C3267131,Exact +GARD:0018915,Orphanet,71859,Exact +GARD:0018916,Orphanet,71862,Exact +GARD:0018916,MeSH,D058499,Exact +GARD:0018916,UMLS,C0854723,Exact +GARD:0018916,MedDRA,10038857,Exact +GARD:0018916,SNOMED-CT,41799005,NA +GARD:0018917,Orphanet,71864,Exact +GARD:0018918,Orphanet,73014,Exact +GARD:0018919,Orphanet,73223,Exact +GARD:0018919,ICD-10,Q87.8,NTBT +GARD:0018919,SNOMED-CT,717813005,NA +GARD:0018920,Orphanet,73224,Exact +GARD:0018920,ICD-10,N25.8,NTBT +GARD:0018920,SNOMED-CT,719839000,NA +GARD:0018921,SNOMED-CT,722107005,NA +GARD:0018921,Orphanet,73230,Exact +GARD:0018921,ICD-10,Q79.8,NTBT +GARD:0018922,Orphanet,73245,Exact +GARD:0018922,ICD-10,G12.8,NTBT +GARD:0018922,SNOMED-CT,723612001,NA +GARD:0018923,SNOMED-CT,719833004,NA +GARD:0018923,Orphanet,73246,Exact +GARD:0018923,ICD-10,Q87.8,NTBT +GARD:0018924,SNOMED-CT,60412004,NA +GARD:0018924,Orphanet,75110,Exact +GARD:0018924,UMLS,C0027030,Exact +GARD:0018924,ICD-10,B87.1,BTNT +GARD:0018924,ICD-10,B87.2,BTNT +GARD:0018924,ICD-10,B87.3,BTNT +GARD:0018924,ICD-10,B87.9,BTNT +GARD:0018924,MeSH,D009198,Exact +GARD:0018924,MedDRA,10028586,Exact +GARD:0018924,ICD-10,B87.8,BTNT +GARD:0018924,ICD-10,B87.0,BTNT +GARD:0018924,ICD-10,B87.4,BTNT +GARD:0018925,Orphanet,75378,Exact +GARD:0018925,SNOMED-CT,722066001,NA +GARD:0018926,Orphanet,75389,Exact +GARD:0018926,ICD-10,Q87.8,NTBT +GARD:0018926,SNOMED-CT,717943008,NA +GARD:0018927,Orphanet,75508,Exact +GARD:0018927,SNOMED-CT,765750001,NA +GARD:0018928,SNOMED-CT,715626008,NA +GARD:0018928,Orphanet,75565,Exact +GARD:0018928,ICD-10,I42.3,NTBT +GARD:0018929,Orphanet,75566,Exact +GARD:0018929,MedDRA,10052841,Exact +GARD:0018929,UMLS,C0206143,Exact +GARD:0018929,ICD-10,I42.3,NTBT +GARD:0018930,Orphanet,75567,Exact +GARD:0018930,SNOMED-CT,715627004,NA +GARD:0018930,ICD-10,G31.8,NTBT +GARD:0018931,Orphanet,75857,Exact +GARD:0018931,ICD-10,Q93.5,NTBT +GARD:0018931,SNOMED-CT,719666002,NA +GARD:0018932,SNOMED-CT,77123007,NA +GARD:0018932,Orphanet,77240,Exact +GARD:0018932,ICD-10,I89.0,NTBT +GARD:0018932,ICD-11,BD93.0,Exact +GARD:0018933,Orphanet,77300,Exact +GARD:0018933,ICD-10,Q87.0,NTBT +GARD:0018933,SNOMED-CT,725149008,NA +GARD:0018934,Orphanet,77301,Exact +GARD:0018934,SNOMED-CT,724098008,NA +GARD:0018934,ICD-10,Q93.5,NTBT +GARD:0018934,UMLS,C3711390,Exact +GARD:0018935,Orphanet,77828,Exact +GARD:0018935,ICD-10,E66.8,NTBT +GARD:0018936,Orphanet,77830,Exact +GARD:0018937,Orphanet,79062,Exact +GARD:0018937,SNOMED-CT,237911005,NA +GARD:0018938,Orphanet,79097,Exact +GARD:0018938,ICD-10,G40.3,NTBT +GARD:0018938,SNOMED-CT,717276003,NA +GARD:0018939,SNOMED-CT,75315001,NA +GARD:0018939,Orphanet,79098,Exact +GARD:0018939,MedDRA,10042742,Exact +GARD:0018939,ICD-10,H44.1,NTBT +GARD:0018939,UMLS,C0029077,Exact +GARD:0018939,MeSH,D009879,Exact +GARD:0018940,SNOMED-CT,773732005,NA +GARD:0018940,Orphanet,79099,Exact +GARD:0018940,ICD-10,D89.8,NTBT +GARD:0018941,Orphanet,79105,Exact +GARD:0018941,MedDRA,10066948,Exact +GARD:0018941,SNOMED-CT,723076008,NA +GARD:0018941,UMLS,C3714524,Exact +GARD:0018941,ICD-10,C49.9,NTBT +GARD:0018941,ICD-11,2B53.0,Exact +GARD:0018942,Orphanet,79127,Exact +GARD:0018942,UMLS,C1735355,Exact +GARD:0018942,ICD-11,CB03.6,Exact +GARD:0018942,ICD-10,J68.4,NTBT +GARD:0018942,UMLS,C1276236,Exact +GARD:0018942,MedDRA,10066393,Exact +GARD:0018942,SNOMED-CT,129451001,NA +GARD:0018943,SNOMED-CT,719911000,NA +GARD:0018943,Orphanet,79129,Exact +GARD:0018944,SNOMED-CT,427086003,NA +GARD:0018944,Orphanet,79138,Exact +GARD:0018944,ICD-10,G61.0,NTBT +GARD:0018944,UMLS,C1960543,Exact +GARD:0018945,Orphanet,79158,Exact +GARD:0018945,ICD-11,5C50.E1,Exact +GARD:0018946,SNOMED-CT,20957000,NA +GARD:0018946,Orphanet,79161,Exact +GARD:0018946,MedDRA,10061023,Exact +GARD:0018946,UMLS,C0149670,Exact +GARD:0018947,Orphanet,79163,Exact +GARD:0018947,ICD-11,5C50.E0,Exact +GARD:0018948,Orphanet,79166,Exact +GARD:0018948,ICD-11,5C60,Exact +GARD:0018948,UMLS,C0268641,Exact +GARD:0018948,ICD-10,E72.0,Exact +GARD:0018949,Orphanet,79168,Exact +GARD:0018950,Orphanet,79169,Exact +GARD:0018951,Orphanet,79171,Exact +GARD:0018951,ICD-11,5C63.0,Exact +GARD:0018952,Orphanet,79172,Exact +GARD:0018952,ICD-10,E72.8,NTBT +GARD:0018953,Orphanet,79173,Exact +GARD:0018953,ICD-11,5C50.B,Exact +GARD:0018953,ICD-10,E72.1,NTBT +GARD:0018954,Orphanet,79174,Exact +GARD:0018954,ICD-10,E71.3,NTBT +GARD:0018955,Orphanet,79175,Exact +GARD:0018955,ICD-10,E72.8,NTBT +GARD:0018955,ICD-11,5C59.1,Exact +GARD:0018956,Orphanet,79177,Exact +GARD:0018956,ICD-10,E74.4,NTBT +GARD:0018957,Orphanet,79178,Exact +GARD:0018957,ICD-10,E74.8,NTBT +GARD:0018958,SNOMED-CT,237977000,NA +GARD:0018958,Orphanet,79179,Exact +GARD:0018958,UMLS,C0342762,Exact +GARD:0018958,ICD-11,5C51.1,Exact +GARD:0018959,SNOMED-CT,44176004,NA +GARD:0018959,Orphanet,79181,Exact +GARD:0018959,UMLS,C0268512,Exact +GARD:0018959,ICD-10,E70.8,NTBT +GARD:0018960,Orphanet,79183,Exact +GARD:0018960,ICD-11,5C52.02,Exact +GARD:0018960,ICD-10,E71.3,NTBT +GARD:0018961,Orphanet,79185,Exact +GARD:0018962,Orphanet,79186,Exact +GARD:0018962,ICD-11,5C51.0,Exact +GARD:0018962,ICD-10,E74.8,NTBT +GARD:0018963,Orphanet,79187,Exact +GARD:0018964,Orphanet,79190,Exact +GARD:0018965,SNOMED-CT,32612005,NA +GARD:0018965,Orphanet,79191,Exact +GARD:0018965,MedDRA,10061476,Exact +GARD:0018965,UMLS,C0268104,Exact +GARD:0018966,Orphanet,79192,Exact +GARD:0018966,ICD-11,5C59.2,Exact +GARD:0018966,ICD-10,G40.8,NTBT +GARD:0018967,Orphanet,79193,Exact +GARD:0018967,ICD-11,5C55.1,Exact +GARD:0018967,MedDRA,10070969,Exact +GARD:0018967,UMLS,C0268127,Exact +GARD:0018967,SNOMED-CT,85444005,NA +GARD:0018968,Orphanet,79194,Exact +GARD:0018969,Orphanet,79195,Exact +GARD:0018970,SNOMED-CT,9128006,NA +GARD:0018970,Orphanet,79196,Exact +GARD:0018970,ICD-11,5C50.5,Exact +GARD:0018970,UMLS,C0268517,Exact +GARD:0018970,ICD-10,E72.8,NTBT +GARD:0018971,Orphanet,79197,Exact +GARD:0018971,ICD-10,E71.2,BTNT +GARD:0018971,ICD-10,E71.1,BTNT +GARD:0018971,ICD-10,E71.0,BTNT +GARD:0018971,UMLS,C0342712,Exact +GARD:0018971,SNOMED-CT,116020001,NA +GARD:0018972,Orphanet,79200,Exact +GARD:0018973,Orphanet,79201,Exact +GARD:0018973,ICD-11,5C51.3,Exact +GARD:0018973,ICD-10,E74.0,Exact +GARD:0018973,MeSH,D006008,Exact +GARD:0018973,UMLS,C0017919,Exact +GARD:0018973,MedDRA,10061990,Exact +GARD:0018973,SNOMED-CT,29633007,NA +GARD:0018974,Orphanet,79207,Exact +GARD:0018975,SNOMED-CT,70528007,NA +GARD:0018975,Orphanet,79212,Exact +GARD:0018975,ICD-11,5C56.20,Exact +GARD:0018975,MeSH,D009081,Exact +GARD:0018975,UMLS,C0026697,Exact +GARD:0018976,Orphanet,79214,Exact +GARD:0018977,Orphanet,79215,Exact +GARD:0018977,ICD-11,5C56.21,Exact +GARD:0018977,ICD-10,E77.1,NTBT +GARD:0018978,Orphanet,79217,Exact +GARD:0018979,Orphanet,79219,Exact +GARD:0018980,Orphanet,79224,Exact +GARD:0018980,ICD-10,E79.8,BTNT +GARD:0018980,SNOMED-CT,238006008,NA +GARD:0018980,ICD-10,E79.1,BTNT +GARD:0018980,ICD-10,E79.0,BTNT +GARD:0018980,MedDRA,10037546,Exact +GARD:0018980,MeSH,D011686,Exact +GARD:0018980,ICD-10,E79.9,BTNT +GARD:0018980,UMLS,C0034139,Exact +GARD:0018981,Orphanet,79226,Exact +GARD:0018982,Orphanet,79254,Exact +GARD:0018982,ICD-11,5C50.00,Exact +GARD:0018982,MedDRA,10034875,Exact +GARD:0018982,UMLS,C0751434,Exact +GARD:0018982,ICD-10,E70.0,Exact +GARD:0018982,SNOMED-CT,7573000,NA +GARD:0018983,Orphanet,79298,Exact +GARD:0018983,ICD-10,E16.1,NTBT +GARD:0018984,Orphanet,79353,Exact +GARD:0018985,Orphanet,79354,Exact +GARD:0018985,UMLS,C0020757,Exact +GARD:0018985,MedDRA,10021198,Exact +GARD:0018985,UMLS,C0020758,Exact +GARD:0018985,MeSH,D007057,Exact +GARD:0018986,SNOMED-CT,254215005,NA +GARD:0018986,Orphanet,79355,Exact +GARD:0018986,MedDRA,10015280,Exact +GARD:0018986,UMLS,C0432330,Exact +GARD:0018987,Orphanet,79356,Exact +GARD:0018987,ICD-10,Q82.8,NTBT +GARD:0018988,SNOMED-CT,239066003,NA +GARD:0018988,Orphanet,79357,Exact +GARD:0018988,ICD-10,Q82.8,NTBT +GARD:0018988,UMLS,C0406757,Exact +GARD:0018989,Orphanet,79358,Exact +GARD:0018989,ICD-11,ED52,Exact +GARD:0018989,UMLS,C0162839,Exact +GARD:0018989,MeSH,D017499,Exact +GARD:0018989,MedDRA,10036175,Exact +GARD:0018989,ICD-10,Q82.8,NTBT +GARD:0018989,SNOMED-CT,400080004,NA +GARD:0018990,Orphanet,79359,Exact +GARD:0018991,Orphanet,79360,Exact +GARD:0018992,Orphanet,79361,Exact +GARD:0018992,ICD-10,Q81.0,NTBT +GARD:0018992,ICD-10,Q81.9,NTBT +GARD:0018992,ICD-10,Q81.2,NTBT +GARD:0018992,ICD-10,Q81.1,NTBT +GARD:0018992,ICD-10,Q81.8,NTBT +GARD:0018992,UMLS,C1274224,Exact +GARD:0018992,SNOMED-CT,61003004,NA +GARD:0018993,Orphanet,79362,Exact +GARD:0018994,Orphanet,79363,Exact +GARD:0018994,UMLS,C0265991,Exact +GARD:0018995,Orphanet,79364,Exact +GARD:0018995,UMLS,C0002170,Exact +GARD:0018996,Orphanet,79365,Exact +GARD:0018996,MeSH,D006983,Exact +GARD:0018996,UMLS,C0020555,Exact +GARD:0018996,MedDRA,10020864,Exact +GARD:0018997,Orphanet,79366,Exact +GARD:0018998,Orphanet,79367,Exact +GARD:0018999,Orphanet,79368,Exact +GARD:0018999,MedDRA,10028684,Exact +GARD:0018999,UMLS,C0853087,Exact +GARD:0018999,UMLS,C0265997,Exact +GARD:0019000,Orphanet,79369,Exact +GARD:0019001,Orphanet,79370,Exact +GARD:0019002,Orphanet,79372,Exact +GARD:0019003,Orphanet,79374,Exact +GARD:0019004,Orphanet,79375,Exact +GARD:0019004,UMLS,C0162834,Exact +GARD:0019005,Orphanet,79376,Exact +GARD:0019005,MedDRA,10040868,Exact +GARD:0019005,UMLS,C0162835,Exact +GARD:0019006,Orphanet,79377,Exact +GARD:0019007,Orphanet,79378,Exact +GARD:0019008,Orphanet,79379,Exact +GARD:0019008,UMLS,C0162819,Exact +GARD:0019008,MeSH,D017445,Exact +GARD:0019008,MedDRA,10062171,Exact +GARD:0019009,Orphanet,79380,Exact +GARD:0019010,Orphanet,79381,Exact +GARD:0019011,Orphanet,79382,Exact +GARD:0019011,UMLS,C1290008,Exact +GARD:0019012,Orphanet,79384,Exact +GARD:0019012,UMLS,C0042109,Exact +GARD:0019013,Orphanet,79385,Exact +GARD:0019014,Orphanet,79386,Exact +GARD:0019015,Orphanet,79387,Exact +GARD:0019016,Orphanet,79388,Exact +GARD:0019017,Orphanet,79389,Exact +GARD:0019017,MeSH,D019588,Exact +GARD:0019017,UMLS,C0231341,Exact +GARD:0019017,MedDRA,10063493,Exact +GARD:0019017,SNOMED-CT,399959003,NA +GARD:0019018,Orphanet,79390,Exact +GARD:0019018,UMLS,C0920193,Exact +GARD:0019019,Orphanet,79391,Exact +GARD:0019020,Orphanet,79467,Exact +GARD:0019020,ICD-10,Q82.5,NTBT +GARD:0019020,UMLS,C0362030,Exact +GARD:0019020,SNOMED-CT,398723007,NA +GARD:0019021,Orphanet,79479,Exact +GARD:0019021,UMLS,C0263316,Exact +GARD:0019021,MedDRA,10057053,Exact +GARD:0019021,ICD-11,EB40.0Y,NTBT +GARD:0019021,UMLS,C0406647,Exact +GARD:0019021,ICD-10,L10.1,Exact +GARD:0019022,Orphanet,79480,Exact +GARD:0019022,ICD-10,L10.4,NTBT +GARD:0019022,UMLS,C0263312,Exact +GARD:0019022,MedDRA,10058917,Exact +GARD:0019022,SNOMED-CT,36739006,NA +GARD:0019023,Orphanet,79483,Exact +GARD:0019023,ICD-10,Q85.8,NTBT +GARD:0019024,Orphanet,79484,Exact +GARD:0019024,ICD-10,Q85.8,NTBT +GARD:0019025,Orphanet,79485,Exact +GARD:0019025,ICD-10,Q85.8,NTBT +GARD:0019026,Orphanet,79492,Exact +GARD:0019026,ICD-10,L67.8,NTBT +GARD:0019027,Orphanet,79651,Exact +GARD:0019027,ICD-10,E70.1,NTBT +GARD:0019028,Orphanet,79669,Exact +GARD:0019029,SNOMED-CT,287085006,NA +GARD:0019029,Orphanet,83001,Exact +GARD:0019030,Orphanet,83312,Exact +GARD:0019030,ICD-10,A79.1,Exact +GARD:0019030,MedDRA,10039137,Exact +GARD:0019030,ICD-11,1C32,Exact +GARD:0019030,UMLS,C0035597,Exact +GARD:0019030,SNOMED-CT,75096007,NA +GARD:0019031,Orphanet,83313,Exact +GARD:0019031,MedDRA,10006045,Exact +GARD:0019031,ICD-11,1C31.1,Exact +GARD:0019031,ICD-10,A77.1,NTBT +GARD:0019031,MeSH,D001907,Exact +GARD:0019031,UMLS,C0006060,Exact +GARD:0019031,SNOMED-CT,186774005,NA +GARD:0019032,Orphanet,83314,Exact +GARD:0019032,ICD-11,1C30.0,Exact +GARD:0019032,SNOMED-CT,39111003,NA +GARD:0019032,MedDRA,10014979,Exact +GARD:0019032,MeSH,D014438,Exact +GARD:0019032,ICD-10,A75.0,Exact +GARD:0019032,UMLS,C0041473,Exact +GARD:0019033,SNOMED-CT,25668000,NA +GARD:0019033,Orphanet,83315,Exact +GARD:0019033,MedDRA,10028282,Exact +GARD:0019033,ICD-10,A75.2,Exact +GARD:0019033,ICD-11,1C30.2,Exact +GARD:0019034,SNOMED-CT,764104003,NA +GARD:0019034,Orphanet,83316,Exact +GARD:0019034,ICD-10,A79.8,NTBT +GARD:0019035,Orphanet,83317,Exact +GARD:0019035,ICD-10,A75.3,Exact +GARD:0019035,ICD-11,1C30.3,Exact +GARD:0019035,MeSH,D012612,Exact +GARD:0019035,MedDRA,10039766,Exact +GARD:0019035,UMLS,C0036472,Exact +GARD:0019035,SNOMED-CT,271425001,NA +GARD:0019036,SNOMED-CT,66063001,NA +GARD:0019036,Orphanet,83450,Exact +GARD:0019036,ICD-10,K00.4,NTBT +GARD:0019037,SNOMED-CT,707250009,NA +GARD:0019037,Orphanet,83453,Exact +GARD:0019037,ICD-10,L43.8,NTBT +GARD:0019038,Orphanet,83465,Exact +GARD:0019038,ICD-10,G47.4,NTBT +GARD:0019038,SNOMED-CT,91521000119104,NA +GARD:0019038,ICD-11,7A20.1,Exact +GARD:0019039,Orphanet,83468,Exact +GARD:0019039,SNOMED-CT,203467005,NA +GARD:0019039,ICD-10,M85.4,Exact +GARD:0019039,UMLS,C0005937,Exact +GARD:0019039,ICD-11,FB80.5,Exact +GARD:0019040,SNOMED-CT,764993001,NA +GARD:0019040,Orphanet,83482,Exact +GARD:0019040,ICD-10,B96.0,NTBT +GARD:0019041,Orphanet,83484,Exact +GARD:0019041,UMLS,C0014060,Exact +GARD:0019041,MedDRA,10041896,Exact +GARD:0019041,ICD-11,1C86,Exact +GARD:0019041,ICD-10,A83.3,NTBT +GARD:0019041,MeSH,D004674,Exact +GARD:0019041,SNOMED-CT,417192005,NA +GARD:0019042,SNOMED-CT,6452009,NA +GARD:0019042,Orphanet,83595,Exact +GARD:0019042,ICD-10,A93.2,NTBT +GARD:0019042,MedDRA,10010022,Exact +GARD:0019042,UMLS,C0009400,Exact +GARD:0019042,MeSH,D003121,Exact +GARD:0019042,ICD-11,1D41,Exact +GARD:0019043,Orphanet,83616,Exact +GARD:0019043,ICD-10,B06.0+,NTBT +GARD:0019043,ICD-10,G05.1*,NTBT +GARD:0019043,SNOMED-CT,192689006,NA +GARD:0019044,SNOMED-CT,723366001,NA +GARD:0019044,Orphanet,83619,Exact +GARD:0019044,ICD-10,Q87.0,NTBT +GARD:0019045,Orphanet,83628,Exact +GARD:0019045,ICD-10,Q87.8,NTBT +GARD:0019045,SNOMED-CT,725138002,NA +GARD:0019046,SNOMED-CT,717186009,NA +GARD:0019046,Orphanet,84065,Exact +GARD:0019046,ICD-10,K90.8,NTBT +GARD:0019047,Orphanet,84085,Exact +GARD:0019047,ICD-10,N32.8,NTBT +GARD:0019047,SNOMED-CT,429233001,NA +GARD:0019048,Orphanet,84087,Exact +GARD:0019048,ICD-10,N07.6,NTBT +GARD:0019048,SNOMED-CT,708127008,NA +GARD:0019049,Orphanet,85168,Exact +GARD:0019049,ICD-10,Q87.5,NTBT +GARD:0019049,SNOMED-CT,720754008,NA +GARD:0019050,SNOMED-CT,389263004,NA +GARD:0019050,Orphanet,85175,Exact +GARD:0019050,UMLS,C1300228,Exact +GARD:0019050,ICD-10,Q77.3,NTBT +GARD:0019051,SNOMED-CT,722434004,NA +GARD:0019051,Orphanet,85198,Exact +GARD:0019051,ICD-10,Q78.4,NTBT +GARD:0019052,Orphanet,85200,Exact +GARD:0019052,SNOMED-CT,715654001,NA +GARD:0019052,ICD-10,Q77.8,NTBT +GARD:0019053,Orphanet,85317,Exact +GARD:0019053,SNOMED-CT,719156006,NA +GARD:0019053,ICD-10,Q87.8,NTBT +GARD:0019054,SNOMED-CT,719155005,NA +GARD:0019054,Orphanet,85319,Exact +GARD:0019054,ICD-10,Q87.8,NTBT +GARD:0019055,SNOMED-CT,719825000,NA +GARD:0019055,Orphanet,85320,Exact +GARD:0019055,ICD-10,Q87.8,NTBT +GARD:0019056,Orphanet,85322,Exact +GARD:0019056,ICD-10,Q87.8,NTBT +GARD:0019056,SNOMED-CT,719011002,NA +GARD:0019057,SNOMED-CT,718897009,NA +GARD:0019057,Orphanet,85323,Exact +GARD:0019057,ICD-10,Q87.8,NTBT +GARD:0019058,Orphanet,85325,Exact +GARD:0019058,ICD-10,Q87.8,NTBT +GARD:0019058,SNOMED-CT,718909001,NA +GARD:0019059,SNOMED-CT,718911005,NA +GARD:0019059,Orphanet,85326,Exact +GARD:0019059,ICD-10,Q87.8,NTBT +GARD:0019060,SNOMED-CT,719826004,NA +GARD:0019060,Orphanet,85327,Exact +GARD:0019060,ICD-10,Q87.8,NTBT +GARD:0019061,SNOMED-CT,718849008,NA +GARD:0019061,Orphanet,85334,Exact +GARD:0019061,ICD-10,G31.8,NTBT +GARD:0019062,Orphanet,85336,Exact +GARD:0019062,ICD-10,G31.8,NTBT +GARD:0019062,SNOMED-CT,718847005,NA +GARD:0019063,SNOMED-CT,718845002,NA +GARD:0019063,Orphanet,85338,Exact +GARD:0019063,ICD-10,G31.8,NTBT +GARD:0019064,Orphanet,85435,Exact +GARD:0019064,ICD-10,M08.0,NTBT +GARD:0019064,SNOMED-CT,410796000,NA +GARD:0019065,SNOMED-CT,32599008,NA +GARD:0019065,Orphanet,85446,Exact +GARD:0019065,ICD-10,E85.3,NTBT +GARD:0019066,Orphanet,86797,Exact +GARD:0019066,ICD-10,L98.5,NTBT +GARD:0019066,SNOMED-CT,725148000,NA +GARD:0019067,Orphanet,86821,Exact +GARD:0019067,ICD-10,Q04.3,NTBT +GARD:0019067,SNOMED-CT,718719001,NA +GARD:0019068,Orphanet,86823,Exact +GARD:0019068,ICD-10,Q04.3,NTBT +GARD:0019069,Orphanet,86836,Exact +GARD:0019069,ICD-11,2A34,Exact +GARD:0019069,MedDRA,10067959,Exact +GARD:0019069,UMLS,C0796466,Exact +GARD:0019069,ICD-10,D46.7,NTBT +GARD:0019069,SNOMED-CT,415285009,NA +GARD:0019070,SNOMED-CT,398623004,NA +GARD:0019070,Orphanet,86839,Exact +GARD:0019070,MedDRA,10038270,Exact +GARD:0019070,UMLS,C0002894,Exact +GARD:0019070,ICD-10,D46.2,NTBT +GARD:0019070,MeSH,D000754,Exact +GARD:0019070,ICD-11,2A35,Exact +GARD:0019071,Orphanet,86849,Exact +GARD:0019071,ICD-10,C94.7,NTBT +GARD:0019071,MeSH,D015471,Exact +GARD:0019071,ICD-11,2A60.37,Exact +GARD:0019071,UMLS,C0023437,Exact +GARD:0019071,SNOMED-CT,307592006,NA +GARD:0019072,Orphanet,86854,Exact +GARD:0019072,ICD-10,C83.0,NTBT +GARD:0019072,MedDRA,10062113,Exact +GARD:0019072,UMLS,C0349632,Exact +GARD:0019072,SNOMED-CT,763666008,NA +GARD:0019073,Orphanet,86861,Exact +GARD:0019073,ICD-10,D89.8,NTBT +GARD:0019074,SNOMED-CT,68979007,NA +GARD:0019074,Orphanet,86864,Exact +GARD:0019074,MedDRA,10019350,Exact +GARD:0019074,ICD-10,C88.3,BTNT +GARD:0019074,UMLS,C0018852,Exact +GARD:0019074,MeSH,D006362,Exact +GARD:0019074,ICD-10,C88.2,BTNT +GARD:0019075,Orphanet,86867,Exact +GARD:0019075,MedDRA,10029460,Exact +GARD:0019075,ICD-10,C83.0,NTBT +GARD:0019075,ICD-11,2A85.0,Exact +GARD:0019075,SNOMED-CT,726721002,NA +GARD:0019076,SNOMED-CT,110007008,NA +GARD:0019076,Orphanet,86875,Exact +GARD:0019076,MedDRA,10001413,Exact +GARD:0019076,ICD-10,C91.5,NTBT +GARD:0019076,UMLS,C0023493,Exact +GARD:0019076,MeSH,D015459,Exact +GARD:0019077,Orphanet,86882,Exact +GARD:0019077,UMLS,C1333984,Exact +GARD:0019077,ICD-10,C86.1,Exact +GARD:0019077,SNOMED-CT,445406001,NA +GARD:0019077,MedDRA,10066957,Exact +GARD:0019077,ICD-11,2A90.8,Exact +GARD:0019078,Orphanet,86885,Exact +GARD:0019078,ICD-11,2A90.C,Exact +GARD:0019078,MedDRA,10034623,Exact +GARD:0019078,UMLS,C0079774,Exact +GARD:0019078,MeSH,D016411,Exact +GARD:0019078,ICD-10,C84.4,NTBT +GARD:0019079,Orphanet,86893,Exact +GARD:0019079,UMLS,C2239290,Exact +GARD:0019079,SNOMED-CT,118605002,NA +GARD:0019079,UMLS,C1334968,Exact +GARD:0019079,ICD-10,C81.0,NTBT +GARD:0019079,ICD-11,2B30.0,Exact +GARD:0019080,Orphanet,86896,Exact +GARD:0019080,MeSH,D054747,Exact +GARD:0019080,UMLS,C0334663,Exact +GARD:0019080,ICD-10,C96.8,Exact +GARD:0019080,ICD-11,2B31.1,Exact +GARD:0019080,SNOMED-CT,109988003,NA +GARD:0019081,Orphanet,86902,Exact +GARD:0019081,UMLS,C1260325,Exact +GARD:0019081,ICD-11,2B31.5,Exact +GARD:0019081,ICD-10,C96.4,NTBT +GARD:0019081,MeSH,D054740,Exact +GARD:0019081,SNOMED-CT,724650000,NA +GARD:0019082,Orphanet,86903,Exact +GARD:0019082,ICD-10,C96.4,NTBT +GARD:0019082,UMLS,C1301364,Exact +GARD:0019082,SNOMED-CT,1156495004,NA +GARD:0019083,Orphanet,86904,Exact +GARD:0019083,ICD-10,D47.7,NTBT +GARD:0019083,SNOMED-CT,771073006,NA +GARD:0019084,SNOMED-CT,766932005,NA +GARD:0019084,Orphanet,86906,Exact +GARD:0019084,ICD-10,G40.5,NTBT +GARD:0019085,Orphanet,86908,Exact +GARD:0019085,UMLS,C0549118,Exact +GARD:0019085,ICD-10,G40.4,NTBT +GARD:0019085,SNOMED-CT,230407006,NA +GARD:0019086,Orphanet,86909,Exact +GARD:0019086,UMLS,C0917800,Exact +GARD:0019086,UMLS,C0751120,Exact +GARD:0019086,ICD-10,G40.3,NTBT +GARD:0019086,SNOMED-CT,192990004,NA +GARD:0019087,Orphanet,86911,Exact +GARD:0019087,SNOMED-CT,230422001,NA +GARD:0019087,ICD-11,8A61.23,Exact +GARD:0019087,ICD-10,G40.4,NTBT +GARD:0019087,UMLS,C0393703,Exact +GARD:0019088,Orphanet,86913,Exact +GARD:0019088,ICD-10,G40.4,NTBT +GARD:0019088,SNOMED-CT,778047006,NA +GARD:0019089,SNOMED-CT,721096008,NA +GARD:0019089,Orphanet,86918,Exact +GARD:0019089,ICD-10,Q82.8,NTBT +GARD:0019090,Orphanet,87277,Exact +GARD:0019091,Orphanet,87884,Exact +GARD:0019091,ICD-10,H90.5,Exact +GARD:0019091,ICD-11,AB50,Exact +GARD:0019092,SNOMED-CT,722051004,NA +GARD:0019092,Orphanet,88643,Exact +GARD:0019092,ICD-10,E03.8,NTBT +GARD:0019093,Orphanet,88660,Exact +GARD:0019093,ICD-10,I15.1,NTBT +GARD:0019093,UMLS,C1854631,Exact +GARD:0019093,SNOMED-CT,766937004,NA +GARD:0019094,Orphanet,88991,Exact +GARD:0019094,UMLS,C0018798,Exact +GARD:0019095,Orphanet,88993,Exact +GARD:0019096,Orphanet,89043,Exact +GARD:0019097,SNOMED-CT,239918008,NA +GARD:0019097,Orphanet,90002,Exact +GARD:0019097,MedDRA,10071575,Exact +GARD:0019097,UMLS,C0409999,Exact +GARD:0019097,ICD-10,M35.8,NTBT +GARD:0019098,Orphanet,90003,Exact +GARD:0019098,ICD-10,K75.8,NTBT +GARD:0019098,SNOMED-CT,717329009,NA +GARD:0019099,Orphanet,90021,Exact +GARD:0019099,SNOMED-CT,763869003,NA +GARD:0019099,ICD-10,G97.8,NTBT +GARD:0019100,Orphanet,90025,Exact +GARD:0019100,ICD-10,Q70.1,BTNT +GARD:0019100,ICD-10,Q70.4,BTNT +GARD:0019100,MeSH,D013576,Exact +GARD:0019100,ICD-10,Q70.2,BTNT +GARD:0019100,ICD-10,Q70.0,BTNT +GARD:0019100,ICD-10,Q70.9,BTNT +GARD:0019100,ICD-10,Q70.3,BTNT +GARD:0019100,UMLS,C0039075,Exact +GARD:0019100,MedDRA,10042778,Exact +GARD:0019101,Orphanet,90036,Exact +GARD:0019101,ICD-10,D59.1,NTBT +GARD:0019101,ICD-11,3A20.2,Exact +GARD:0019101,SNOMED-CT,718716008,NA +GARD:0019102,SNOMED-CT,309742004,NA +GARD:0019102,Orphanet,90037,Exact +GARD:0019102,UMLS,C0391817,Exact +GARD:0019102,ICD-10,D59.0,NTBT +GARD:0019103,Orphanet,90039,Exact +GARD:0019103,ICD-11,3A51.6,Exact +GARD:0019103,MedDRA,10055019,Exact +GARD:0019103,ICD-10,D58.2,NTBT +GARD:0019103,UMLS,C0272080,Exact +GARD:0019103,SNOMED-CT,66729008,NA +GARD:0019104,SNOMED-CT,48250002,NA +GARD:0019104,Orphanet,90041,Exact +GARD:0019104,MedDRA,10042217,Exact +GARD:0019104,ICD-10,D75.1,NTBT +GARD:0019104,UMLS,C0541719,Exact +GARD:0019104,MedDRA,10053885,Exact +GARD:0019104,UMLS,C2242785,Exact +GARD:0019105,Orphanet,90051,Exact +GARD:0019105,ICD-10,P36.0,NTBT +GARD:0019105,ICD-10,P36.1,NTBT +GARD:0019105,ICD-10,P36.9,NTBT +GARD:0019105,ICD-10,P36.5,NTBT +GARD:0019105,ICD-10,P36.8,NTBT +GARD:0019105,ICD-10,P36.3,NTBT +GARD:0019105,ICD-10,P36.4,NTBT +GARD:0019105,ICD-10,P36.2,NTBT +GARD:0019106,Orphanet,90052,Exact +GARD:0019106,ICD-10,B18.2,NTBT +GARD:0019107,Orphanet,90053,Exact +GARD:0019107,ICD-10,Z94.8,NTBT +GARD:0019108,Orphanet,90056,Exact +GARD:0019108,ICD-10,S06.8,NTBT +GARD:0019108,ICD-10,S06.6,NTBT +GARD:0019108,ICD-10,S06.0,NTBT +GARD:0019108,ICD-10,S06.9,NTBT +GARD:0019108,ICD-10,S06.2,NTBT +GARD:0019108,ICD-10,S06.3,NTBT +GARD:0019108,ICD-10,S06.4,NTBT +GARD:0019108,ICD-10,S06.5,NTBT +GARD:0019108,ICD-10,S06.1,NTBT +GARD:0019108,ICD-10,S06.7,NTBT +GARD:0019109,Orphanet,90058,Exact +GARD:0019109,ICD-10,T09.3,NTBT +GARD:0019109,UMLS,C0037929,Exact +GARD:0019109,MedDRA,10041552,Exact +GARD:0019109,SNOMED-CT,90584004,NA +GARD:0019110,Orphanet,90060,Exact +GARD:0019110,ICD-10,R04.8,NTBT +GARD:0019111,Orphanet,90061,Exact +GARD:0019111,ICD-10,H30.0,NTBT +GARD:0019111,ICD-10,H30.1,NTBT +GARD:0019112,Orphanet,90062,Exact +GARD:0019112,MedDRA,10000804,Exact +GARD:0019112,ICD-10,K72.0,NTBT +GARD:0019112,MeSH,D017114,Exact +GARD:0019112,SNOMED-CT,197270009,NA +GARD:0019112,UMLS,C0162557,Exact +GARD:0019113,Orphanet,90064,Exact +GARD:0019113,ICD-10,I74.4,NTBT +GARD:0019114,SNOMED-CT,230719004,NA +GARD:0019114,Orphanet,90065,Exact +GARD:0019114,ICD-10,I60.9,NTBT +GARD:0019115,Orphanet,90068,Exact +GARD:0019115,ICD-11,6C45.3,Exact +GARD:0019115,ICD-10,T40.5,Exact +GARD:0019115,SNOMED-CT,9982009,NA +GARD:0019116,SNOMED-CT,765090007,NA +GARD:0019116,Orphanet,90069,Exact +GARD:0019116,ICD-10,T60.3,NTBT +GARD:0019117,Orphanet,90073,Exact +GARD:0019117,ICD-10,B18.0,NTBT +GARD:0019118,Orphanet,90076,Exact +GARD:0019118,ICD-10,T30.3,NTBT +GARD:0019118,SNOMED-CT,1156468009,NA +GARD:0019119,Orphanet,90077,Exact +GARD:0019120,Orphanet,90078,Exact +GARD:0019120,ICD-10,A04.8,ND (not yet decided/unable to decide) +GARD:0019120,ICD-10,U81.0,ND (not yet decided/unable to decide) +GARD:0019121,Orphanet,90080,Exact +GARD:0019121,ICD-10,H59.8,NTBT +GARD:0019122,Orphanet,90081,Exact +GARD:0019122,ICD-11,1C62.3,NTBT +GARD:0019122,UMLS,C0343755,Exact +GARD:0019122,ICD-10,B22.2,Exact +GARD:0019123,Orphanet,90118,Exact +GARD:0019123,ICD-10,G60.0,NTBT +GARD:0019123,SNOMED-CT,766977007,NA +GARD:0019124,SNOMED-CT,771144005,NA +GARD:0019124,Orphanet,90119,Exact +GARD:0019124,ICD-10,G60.0,NTBT +GARD:0019125,SNOMED-CT,238899009,NA +GARD:0019125,Orphanet,90156,Exact +GARD:0019125,ICD-10,E88.1,NTBT +GARD:0019126,Orphanet,90157,Exact +GARD:0019126,ICD-10,E88.1,NTBT +GARD:0019126,SNOMED-CT,403661001,NA +GARD:0019127,SNOMED-CT,238897006,NA +GARD:0019127,Orphanet,90158,Exact +GARD:0019127,ICD-10,E88.1,NTBT +GARD:0019128,SNOMED-CT,783014007,NA +GARD:0019128,Orphanet,90159,Exact +GARD:0019128,ICD-10,E88.1,NTBT +GARD:0019129,Orphanet,90160,Exact +GARD:0019129,ICD-10,E88.1,NTBT +GARD:0019129,SNOMED-CT,238898001,NA +GARD:0019130,Orphanet,90280,Exact +GARD:0019130,MeSH,C535924,Exact +GARD:0019130,ICD-10,L93.2,NTBT +GARD:0019130,UMLS,C0024145,Exact +GARD:0019130,MedDRA,10025141,Exact +GARD:0019130,SNOMED-CT,238928005,NA +GARD:0019131,SNOMED-CT,200938002,NA +GARD:0019131,Orphanet,90281,Exact +GARD:0019131,UMLS,C0024138,Exact +GARD:0019131,ICD-10,L93.0,Exact +GARD:0019131,ICD-11,EB51.0,Exact +GARD:0019131,MeSH,D008179,Exact +GARD:0019131,MedDRA,10013072,Exact +GARD:0019132,SNOMED-CT,403492006,NA +GARD:0019132,Orphanet,90282,Exact +GARD:0019132,ICD-10,L93.2,NTBT +GARD:0019133,Orphanet,90285,Exact +GARD:0019133,SNOMED-CT,239888002,NA +GARD:0019133,ICD-10,L93.2,NTBT +GARD:0019133,UMLS,C0030327,Exact +GARD:0019133,MeSH,D015435,Exact +GARD:0019134,SNOMED-CT,254223007,NA +GARD:0019134,Orphanet,90350,Exact +GARD:0019134,ICD-10,Q82.8,NTBT +GARD:0019134,UMLS,C0432337,Exact +GARD:0019135,SNOMED-CT,717255008,NA +GARD:0019135,Orphanet,90363,Exact +GARD:0019135,ICD-10,I89.0,NTBT +GARD:0019136,SNOMED-CT,8214000,NA +GARD:0019136,Orphanet,90389,Exact +GARD:0019136,ICD-10,Q82.2,NTBT +GARD:0019136,MedDRA,10043192,Exact +GARD:0019136,UMLS,C0263402,Exact +GARD:0019137,SNOMED-CT,717257000,NA +GARD:0019137,Orphanet,90393,Exact +GARD:0019137,ICD-10,L98.5,NTBT +GARD:0019138,Orphanet,90394,Exact +GARD:0019138,ICD-10,L98.5,NTBT +GARD:0019138,SNOMED-CT,717258005,NA +GARD:0019139,Orphanet,90395,Exact +GARD:0019139,ICD-10,L98.5,NTBT +GARD:0019139,SNOMED-CT,717259002,NA +GARD:0019140,Orphanet,90396,Exact +GARD:0019140,UMLS,C0406660,Exact +GARD:0019140,ICD-10,L98.5,NTBT +GARD:0019140,SNOMED-CT,238949006,NA +GARD:0019141,Orphanet,90397,Exact +GARD:0019141,ICD-10,L98.5,NTBT +GARD:0019142,Orphanet,90398,Exact +GARD:0019142,ICD-10,L98.5,NTBT +GARD:0019143,Orphanet,90399,Exact +GARD:0019143,ICD-10,L98.5,NTBT +GARD:0019144,Orphanet,90400,Exact +GARD:0019144,ICD-10,L98.5,NTBT +GARD:0019145,Orphanet,90642,Exact +GARD:0019145,ICD-10,H90.3,NTBT +GARD:0019145,SNOMED-CT,232333009,NA +GARD:0019146,Orphanet,90692,Exact +GARD:0019147,Orphanet,90771,Exact +GARD:0019147,MeSH,D012734,Exact +GARD:0019147,UMLS,C0036875,Exact +GARD:0019147,MedDRA,10070597,Exact +GARD:0019148,Orphanet,90776,Exact +GARD:0019148,ICD-10,E25.0,NTBT +GARD:0019149,Orphanet,90783,Exact +GARD:0019150,Orphanet,90786,Exact +GARD:0019151,Orphanet,90787,Exact +GARD:0019151,ICD-10,E29.1,NTBT +GARD:0019152,Orphanet,91088,Exact +GARD:0019153,Orphanet,91127,Exact +GARD:0019153,ICD-10,B34.0,NTBT +GARD:0019154,SNOMED-CT,724099000,NA +GARD:0019154,Orphanet,91136,Exact +GARD:0019154,ICD-10,E72.0,NTBT +GARD:0019155,Orphanet,91140,Exact +GARD:0019155,ICD-10,M08.8,NTBT +GARD:0019156,Orphanet,91144,Exact +GARD:0019156,ICD-10,Q56.2,NTBT +GARD:0019156,ICD-11,5A71.1,Exact +GARD:0019157,Orphanet,91347,Exact +GARD:0019157,ICD-10,D35.2,NTBT +GARD:0019157,UMLS,C0346303,Exact +GARD:0019157,SNOMED-CT,254959007,NA +GARD:0019158,Orphanet,91348,Exact +GARD:0019158,UMLS,C0346304,Exact +GARD:0019158,ICD-10,D35.2,NTBT +GARD:0019158,SNOMED-CT,254960002,NA +GARD:0019159,SNOMED-CT,254962005,NA +GARD:0019159,Orphanet,91349,Exact +GARD:0019159,ICD-10,D35.2,NTBT +GARD:0019159,UMLS,C0338078,Exact +GARD:0019159,ICD-11,2F37.0,Exact +GARD:0019160,Orphanet,91350,Exact +GARD:0019160,ICD-10,E23.0,NTBT +GARD:0019160,SNOMED-CT,783009008,NA +GARD:0019161,Orphanet,91351,Exact +GARD:0019161,ICD-10,E23.0,NTBT +GARD:0019161,SNOMED-CT,783008000,NA +GARD:0019162,Orphanet,91352,Exact +GARD:0019162,ICD-10,C72.9,NTBT +GARD:0019162,UMLS,C1333813,Exact +GARD:0019163,SNOMED-CT,715668008,NA +GARD:0019163,Orphanet,91354,Exact +GARD:0019163,ICD-10,E23.0,NTBT +GARD:0019164,Orphanet,91357,Exact +GARD:0019164,ICD-10,Q39.8,NTBT +GARD:0019164,SNOMED-CT,66865009,NA +GARD:0019165,SNOMED-CT,204667006,NA +GARD:0019165,Orphanet,91358,Exact +GARD:0019165,ICD-11,LB12.4,Exact +GARD:0019165,ICD-10,Q39.6,NTBT +GARD:0019166,Orphanet,91359,Exact +GARD:0019166,ICD-10,J84.0,NTBT +GARD:0019166,SNOMED-CT,708026002,NA +GARD:0019166,ICD-11,CB04.6,Exact +GARD:0019167,SNOMED-CT,129452008,NA +GARD:0019167,Orphanet,91364,Exact +GARD:0019167,UMLS,C1290344,Exact +GARD:0019167,ICD-10,J84.8,NTBT +GARD:0019168,Orphanet,91397,Exact +GARD:0019168,ICD-10,Q10.3,NTBT +GARD:0019168,UMLS,C1302999,Exact +GARD:0019168,ICD-11,LA14.07,Exact +GARD:0019168,SNOMED-CT,400952003,NA +GARD:0019169,SNOMED-CT,400965007,NA +GARD:0019169,Orphanet,91491,Exact +GARD:0019169,ICD-10,Q13.8,NTBT +GARD:0019169,ICD-11,LA14.03,Exact +GARD:0019170,SNOMED-CT,23502006,NA +GARD:0019170,Orphanet,91546,Exact +GARD:0019170,ICD-11,1C1G,Exact +GARD:0019170,MeSH,D008193,Exact +GARD:0019170,MedDRA,10025169,Exact +GARD:0019170,UMLS,C0024198,Exact +GARD:0019170,ICD-10,A69.2,Exact +GARD:0019171,Orphanet,91547,Exact +GARD:0019171,UMLS,C0035021,Exact +GARD:0019171,ICD-10,A68.1,BTNT +GARD:0019171,MeSH,D012061,Exact +GARD:0019171,MedDRA,10038300,Exact +GARD:0019171,ICD-10,A68.0,BTNT +GARD:0019171,ICD-10,A68.9,BTNT +GARD:0019171,SNOMED-CT,420079008,NA +GARD:0019172,Orphanet,93101,Exact +GARD:0019172,ICD-10,Q60.4,Exact +GARD:0019172,UMLS,C0266295,Exact +GARD:0019172,MedDRA,10049102,Exact +GARD:0019172,ICD-11,LB30.0Y,NTBT +GARD:0019172,SNOMED-CT,32659003,NA +GARD:0019172,UMLS,C2608080,Exact +GARD:0019172,ICD-10,Q60.5,Exact +GARD:0019172,ICD-10,Q60.3,Exact +GARD:0019173,Orphanet,93108,Exact +GARD:0019173,ICD-11,LB30.1,Exact +GARD:0019173,SNOMED-CT,717742006,NA +GARD:0019173,UMLS,C3536714,Exact +GARD:0019173,ICD-10,Q61.4,Exact +GARD:0019174,SNOMED-CT,85901000,NA +GARD:0019174,Orphanet,93109,Exact +GARD:0019174,ICD-10,Q63.8,NTBT +GARD:0019175,Orphanet,93126,Exact +GARD:0019175,ICD-10,N05.7,NTBT +GARD:0019175,SNOMED-CT,239932005,NA +GARD:0019176,SNOMED-CT,717263009,NA +GARD:0019176,Orphanet,93164,Exact +GARD:0019176,ICD-10,N15.8,NTBT +GARD:0019177,Orphanet,93172,Exact +GARD:0019177,UMLS,C0431697,Exact +GARD:0019177,ICD-10,Q61.4,NTBT +GARD:0019178,SNOMED-CT,204950001,NA +GARD:0019178,Orphanet,93173,Exact +GARD:0019178,UMLS,C0431698,Exact +GARD:0019178,ICD-10,Q61.4,NTBT +GARD:0019179,Orphanet,93176,Exact +GARD:0019179,ICD-10,Q63.8,NTBT +GARD:0019180,Orphanet,93177,Exact +GARD:0019180,ICD-10,Q63.8,NTBT +GARD:0019181,Orphanet,93277,Exact +GARD:0019181,ICD-11,FB80.0,NTBT +GARD:0019181,MeSH,D005358,Exact +GARD:0019181,UMLS,C0016064,Exact +GARD:0019181,ICD-10,M85.0,Exact +GARD:0019181,SNOMED-CT,89859004,NA +GARD:0019182,Orphanet,93320,Exact +GARD:0019182,ICD-11,LB99.3,Exact +GARD:0019182,ICD-10,Q71.5,Exact +GARD:0019182,SNOMED-CT,44444001,NA +GARD:0019183,Orphanet,93399,Exact +GARD:0019183,ICD-10,E77.1,NTBT +GARD:0019184,Orphanet,93400,Exact +GARD:0019184,ICD-10,E77.1,NTBT +GARD:0019185,Orphanet,93420,Exact +GARD:0019186,Orphanet,93421,Exact +GARD:0019187,Orphanet,93422,Exact +GARD:0019188,Orphanet,93423,Exact +GARD:0019189,Orphanet,93424,Exact +GARD:0019190,Orphanet,93425,Exact +GARD:0019191,Orphanet,93429,Exact +GARD:0019191,ICD-10,Q78.8,NTBT +GARD:0019192,Orphanet,93430,Exact +GARD:0019192,ICD-11,LD24.7,Exact +GARD:0019192,ICD-10,Q78.5,NTBT +GARD:0019193,Orphanet,93434,Exact +GARD:0019194,Orphanet,93436,Exact +GARD:0019194,ICD-10,Q74.8,NTBT +GARD:0019195,Orphanet,93438,Exact +GARD:0019195,ICD-11,LD24.A,Exact +GARD:0019196,Orphanet,93439,Exact +GARD:0019196,UMLS,C0432238,Exact +GARD:0019197,Orphanet,93440,Exact +GARD:0019197,ICD-11,LD24.D,Exact +GARD:0019198,Orphanet,93441,Exact +GARD:0019198,ICD-11,LD24.E,Exact +GARD:0019199,Orphanet,93443,Exact +GARD:0019199,UMLS,C1300205,Exact +GARD:0019199,SNOMED-CT,389236000,NA +GARD:0019200,Orphanet,93444,Exact +GARD:0019201,Orphanet,93446,Exact +GARD:0019202,Orphanet,93447,Exact +GARD:0019203,Orphanet,93448,Exact +GARD:0019204,Orphanet,93449,Exact +GARD:0019205,Orphanet,93450,Exact +GARD:0019206,Orphanet,93451,Exact +GARD:0019207,Orphanet,93453,Exact +GARD:0019207,ICD-11,LD25.3,Exact +GARD:0019208,Orphanet,93454,Exact +GARD:0019208,ICD-11,LD24.H,Exact +GARD:0019209,Orphanet,93455,Exact +GARD:0019210,Orphanet,93457,Exact +GARD:0019210,ICD-10,Q71.3,BTNT +GARD:0019210,ICD-10,Q73.8,BTNT +GARD:0019210,ICD-10,Q71.0,BTNT +GARD:0019210,ICD-10,Q71.5,BTNT +GARD:0019210,ICD-10,Q72.5,BTNT +GARD:0019210,ICD-10,Q71.1,BTNT +GARD:0019210,ICD-10,Q71.6,BTNT +GARD:0019210,ICD-10,Q73.0,BTNT +GARD:0019210,ICD-10,Q72.4,BTNT +GARD:0019210,ICD-10,Q72.7,BTNT +GARD:0019210,ICD-10,Q72.1,BTNT +GARD:0019210,ICD-10,Q71.2,BTNT +GARD:0019210,ICD-10,Q72.0,BTNT +GARD:0019210,ICD-10,Q72.9,BTNT +GARD:0019210,ICD-10,Q71.8,BTNT +GARD:0019210,ICD-10,Q72.3,BTNT +GARD:0019210,ICD-10,Q72.2,BTNT +GARD:0019210,ICD-10,Q72.6,BTNT +GARD:0019210,ICD-10,Q72.8,BTNT +GARD:0019210,ICD-10,Q73.1,BTNT +GARD:0019210,ICD-10,Q71.9,BTNT +GARD:0019210,ICD-10,Q71.4,BTNT +GARD:0019211,Orphanet,93458,Exact +GARD:0019212,Orphanet,93459,Exact +GARD:0019213,Orphanet,93460,Exact +GARD:0019213,ICD-11,LD2C,Exact +GARD:0019213,ICD-10,Q87.3,Exact +GARD:0019214,Orphanet,93461,Exact +GARD:0019215,Orphanet,93465,Exact +GARD:0019216,Orphanet,93545,Exact +GARD:0019216,UMLS,C1968949,Exact +GARD:0019217,Orphanet,93546,Exact +GARD:0019218,Orphanet,93547,Exact +GARD:0019219,Orphanet,93552,Exact +GARD:0019219,ICD-10,M32.9,NTBT +GARD:0019219,ICD-10,M32.0,NTBT +GARD:0019219,SNOMED-CT,403488004,NA +GARD:0019219,ICD-10,M32.1,NTBT +GARD:0019219,ICD-10,M32.8,NTBT +GARD:0019220,Orphanet,93554,Exact +GARD:0019220,ICD-10,D89.1,NTBT +GARD:0019221,Orphanet,93555,Exact +GARD:0019221,ICD-10,D89.1,NTBT +GARD:0019222,Orphanet,93556,Exact +GARD:0019222,ICD-10,D89.8,NTBT +GARD:0019222,ICD-11,2A83.50,Exact +GARD:0019223,Orphanet,93557,Exact +GARD:0019223,ICD-11,2A83.51,Exact +GARD:0019223,ICD-10,D89.8,NTBT +GARD:0019224,Orphanet,93560,Exact +GARD:0019224,ICD-10,E85.0,NTBT +GARD:0019225,Orphanet,93561,Exact +GARD:0019225,ICD-10,E85.0,NTBT +GARD:0019226,Orphanet,93562,Exact +GARD:0019226,ICD-10,E85.0,NTBT +GARD:0019227,Orphanet,93573,Exact +GARD:0019227,MeSH,D057049,Exact +GARD:0019227,MedDRA,10043645,Exact +GARD:0019227,UMLS,C2717961,Exact +GARD:0019227,SNOMED-CT,126729006,NA +GARD:0019228,Orphanet,93587,Exact +GARD:0019229,Orphanet,93593,Exact +GARD:0019230,Orphanet,93603,Exact +GARD:0019230,UMLS,C0151747,Exact +GARD:0019231,Orphanet,93614,Exact +GARD:0019232,Orphanet,93618,Exact +GARD:0019233,Orphanet,93619,Exact +GARD:0019233,UMLS,C0022665,Exact +GARD:0019234,Orphanet,93665,Exact +GARD:0019234,UMLS,C3267073,Exact +GARD:0019234,MedDRA,10072220,Exact +GARD:0019235,Orphanet,93928,Exact +GARD:0019235,UMLS,C0014588,Exact +GARD:0019235,MeSH,D004842,Exact +GARD:0019235,MedDRA,10015088,Exact +GARD:0019235,ICD-11,LB55,Exact +GARD:0019235,ICD-10,Q64.0,Exact +GARD:0019235,UMLS,C0563449,Exact +GARD:0019235,SNOMED-CT,406476007,NA +GARD:0019236,Orphanet,93938,Exact +GARD:0019236,ICD-10,Q32.1,NTBT +GARD:0019237,Orphanet,93939,Exact +GARD:0019237,ICD-10,Q32.1,NTBT +GARD:0019238,Orphanet,93941,Exact +GARD:0019238,ICD-10,Q32.1,NTBT +GARD:0019239,Orphanet,93945,Exact +GARD:0019240,Orphanet,93946,Exact +GARD:0019241,Orphanet,93947,Exact +GARD:0019242,Orphanet,93950,Exact +GARD:0019243,Orphanet,93958,Exact +GARD:0019243,ICD-11,8A02.0Y,NTBT +GARD:0019243,ICD-10,G24.4,Exact +GARD:0019243,UMLS,C0393607,Exact +GARD:0019243,SNOMED-CT,230328001,NA +GARD:0019244,Orphanet,94056,Exact +GARD:0019244,ICD-10,Q74.0,NTBT +GARD:0019244,UMLS,C0431799,Exact +GARD:0019244,SNOMED-CT,205330003,NA +GARD:0019245,Orphanet,94058,Exact +GARD:0019245,MedDRA,10062891,Exact +GARD:0019245,SNOMED-CT,232086000,NA +GARD:0019245,UMLS,C0017609,Exact +GARD:0019245,MeSH,D015355,Exact +GARD:0019246,SNOMED-CT,707151000,NA +GARD:0019246,Orphanet,94059,Exact +GARD:0019246,MedDRA,10060875,Exact +GARD:0019246,ICD-11,EC90.10,Exact +GARD:0019246,UMLS,C1262019,Exact +GARD:0019246,ICD-10,L29.8,NTBT +GARD:0019247,Orphanet,94066,Exact +GARD:0019247,ICD-10,Q87.8,NTBT +GARD:0019247,SNOMED-CT,723676007,NA +GARD:0019248,Orphanet,94080,Exact +GARD:0019248,ICD-10,D44.7,NTBT +GARD:0019248,SNOMED-CT,764999002,NA +GARD:0019249,Orphanet,94087,Exact +GARD:0019249,SNOMED-CT,238883003,NA +GARD:0019249,ICD-10,M35.8,NTBT +GARD:0019249,UMLS,C0406594,Exact +GARD:0019250,SNOMED-CT,785809005,NA +GARD:0019250,Orphanet,94091,Exact +GARD:0019250,ICD-10,G12.2,NTBT +GARD:0019251,Orphanet,94125,Exact +GARD:0019251,ICD-10,G11.8,NTBT +GARD:0019251,SNOMED-CT,782696001,NA +GARD:0019252,Orphanet,94145,Exact +GARD:0019252,ICD-10,G11.8,NTBT +GARD:0019253,Orphanet,94148,Exact +GARD:0019253,ICD-10,G11.8,NTBT +GARD:0019254,Orphanet,94149,Exact +GARD:0019254,ICD-10,G11.8,NTBT +GARD:0019255,Orphanet,95157,Exact +GARD:0019255,UMLS,C0268328,Exact +GARD:0019255,ICD-10,E80.2,NTBT +GARD:0019256,Orphanet,95161,Exact +GARD:0019256,ICD-10,E80.2,NTBT +GARD:0019257,Orphanet,95409,Exact +GARD:0019257,UMLS,C0151467,Exact +GARD:0019257,ICD-10,E27.2,NTBT +GARD:0019257,ICD-11,5A74.1,Exact +GARD:0019257,SNOMED-CT,766986002,NA +GARD:0019258,Orphanet,95427,Exact +GARD:0019258,ICD-10,K91.2,BTNT +GARD:0019259,Orphanet,95443,Exact +GARD:0019259,ICD-10,Q24.8,NTBT +GARD:0019259,UMLS,C0265865,Exact +GARD:0019259,SNOMED-CT,16567006,NA +GARD:0019260,Orphanet,95448,Exact +GARD:0019260,UMLS,C0265843,Exact +GARD:0019260,ICD-10,Q23.0,NTBT +GARD:0019260,MedDRA,10066801,Exact +GARD:0019260,ICD-11,LA8A.23,Exact +GARD:0019260,SNOMED-CT,51442005,NA +GARD:0019261,SNOMED-CT,92976003,NA +GARD:0019261,Orphanet,95457,Exact +GARD:0019261,ICD-10,Q22.4,NTBT +GARD:0019262,SNOMED-CT,36233006,NA +GARD:0019262,Orphanet,95459,Exact +GARD:0019262,UMLS,C0265836,Exact +GARD:0019262,MedDRA,10010656,Exact +GARD:0019262,ICD-10,Q22.4,Exact +GARD:0019262,ICD-11,LA87.01,Exact +GARD:0019263,Orphanet,95461,Exact +GARD:0019263,ICD-10,Q22.8,NTBT +GARD:0019264,SNOMED-CT,253384009,NA +GARD:0019264,Orphanet,95462,Exact +GARD:0019264,ICD-10,Q22.8,NTBT +GARD:0019265,Orphanet,95463,Exact +GARD:0019265,ICD-10,Q22.8,NTBT +GARD:0019266,Orphanet,95464,Exact +GARD:0019266,ICD-10,Q23.2,BTNT +GARD:0019266,ICD-10,Q23.3,BTNT +GARD:0019267,SNOMED-CT,78495000,NA +GARD:0019267,Orphanet,95465,Exact +GARD:0019267,ICD-10,Q23.3,NTBT +GARD:0019268,Orphanet,95474,Exact +GARD:0019268,ICD-10,Q23.8,NTBT +GARD:0019268,UMLS,C0344770,Exact +GARD:0019268,SNOMED-CT,253402005,NA +GARD:0019269,Orphanet,95483,Exact +GARD:0019270,Orphanet,95485,Exact +GARD:0019271,Orphanet,95486,Exact +GARD:0019271,ICD-10,Q25.8,NTBT +GARD:0019271,SNOMED-CT,472706000,NA +GARD:0019272,Orphanet,95488,Exact +GARD:0019272,ICD-10,E23.0,NTBT +GARD:0019273,Orphanet,95491,Exact +GARD:0019273,ICD-10,Q24.5,NTBT +GARD:0019273,SNOMED-CT,204378009,NA +GARD:0019274,Orphanet,95495,Exact +GARD:0019275,Orphanet,95498,Exact +GARD:0019275,SNOMED-CT,70195006,NA +GARD:0019275,UMLS,C0265928,Exact +GARD:0019275,ICD-10,Q26.9,NTBT +GARD:0019276,SNOMED-CT,81577001,NA +GARD:0019276,Orphanet,95499,Exact +GARD:0019276,UMLS,C0265932,Exact +GARD:0019276,ICD-10,Q26.9,NTBT +GARD:0019277,Orphanet,95500,Exact +GARD:0019277,ICD-10,Q21.1,NTBT +GARD:0019278,Orphanet,95502,Exact +GARD:0019278,ICD-10,E23.0,NTBT +GARD:0019279,Orphanet,95503,Exact +GARD:0019280,Orphanet,95505,Exact +GARD:0019281,SNOMED-CT,237706000,NA +GARD:0019281,Orphanet,95506,Exact +GARD:0019281,ICD-10,E23.6,NTBT +GARD:0019281,UMLS,C0342410,Exact +GARD:0019282,Orphanet,95507,Exact +GARD:0019282,UMLS,C3163825,Exact +GARD:0019282,ICD-10,Q26.8,NTBT +GARD:0019282,SNOMED-CT,447823004,NA +GARD:0019283,Orphanet,95510,Exact +GARD:0019283,ICD-10,Q20.8,NTBT +GARD:0019284,Orphanet,95512,Exact +GARD:0019284,ICD-10,E23.6,NTBT +GARD:0019284,SNOMED-CT,783243008,NA +GARD:0019285,Orphanet,95513,Exact +GARD:0019285,ICD-10,E23.6,NTBT +GARD:0019285,SNOMED-CT,783016009,NA +GARD:0019286,Orphanet,95611,Exact +GARD:0019286,ICD-10,E23.0,NTBT +GARD:0019287,SNOMED-CT,237701005,NA +GARD:0019287,Orphanet,95613,Exact +GARD:0019287,MeSH,D010899,Exact +GARD:0019287,ICD-10,E23.6,NTBT +GARD:0019287,MedDRA,10056447,Exact +GARD:0019287,UMLS,C0032001,Exact +GARD:0019288,Orphanet,95617,Exact +GARD:0019289,Orphanet,95618,Exact +GARD:0019290,SNOMED-CT,237699005,NA +GARD:0019290,Orphanet,95619,Exact +GARD:0019290,ICD-10,E23.1,NTBT +GARD:0019291,Orphanet,95626,Exact +GARD:0019291,ICD-10,E23.2,NTBT +GARD:0019292,Orphanet,95707,Exact +GARD:0019292,UMLS,C1387005,Exact +GARD:0019292,UMLS,C0266435,Exact +GARD:0019292,ICD-10,Q55.6,NTBT +GARD:0019292,SNOMED-CT,34911001,NA +GARD:0019293,Orphanet,95709,Exact +GARD:0019293,ICD-10,E28.8,NTBT +GARD:0019294,Orphanet,95710,Exact +GARD:0019294,ICD-10,E28.3,NTBT +GARD:0019295,Orphanet,95711,Exact +GARD:0019295,ICD-10,E03.1,NTBT +GARD:0019296,Orphanet,95714,Exact +GARD:0019296,ICD-10,E03.0,NTBT +GARD:0019296,ICD-10,E03.1,NTBT +GARD:0019297,Orphanet,95715,Exact +GARD:0019297,SNOMED-CT,717333002,NA +GARD:0019297,ICD-10,P72.2,NTBT +GARD:0019298,SNOMED-CT,717334008,NA +GARD:0019298,Orphanet,95717,Exact +GARD:0019298,ICD-10,E03.1,NTBT +GARD:0019299,Orphanet,95718,Exact +GARD:0019299,ICD-10,Q89.2,NTBT +GARD:0019300,Orphanet,96059,Exact +GARD:0019300,ICD-10,Q92.1,NTBT +GARD:0019300,SNOMED-CT,764628000,NA +GARD:0019301,SNOMED-CT,764629008,NA +GARD:0019301,Orphanet,96060,Exact +GARD:0019301,ICD-10,Q92.1,NTBT +GARD:0019302,Orphanet,96063,Exact +GARD:0019302,ICD-10,Q92.1,NTBT +GARD:0019302,SNOMED-CT,764461004,NA +GARD:0019303,SNOMED-CT,766053003,NA +GARD:0019303,Orphanet,96069,Exact +GARD:0019303,ICD-10,Q92.3,NTBT +GARD:0019304,Orphanet,96070,Exact +GARD:0019304,ICD-10,Q92.3,NTBT +GARD:0019304,SNOMED-CT,764518004,NA +GARD:0019305,SNOMED-CT,764519007,NA +GARD:0019305,Orphanet,96071,Exact +GARD:0019305,ICD-10,Q92.3,NTBT +GARD:0019306,SNOMED-CT,726706008,NA +GARD:0019306,Orphanet,96072,Exact +GARD:0019306,ICD-10,Q92.3,NTBT +GARD:0019307,Orphanet,96074,Exact +GARD:0019307,ICD-10,Q92.3,NTBT +GARD:0019307,SNOMED-CT,763276000,NA +GARD:0019308,Orphanet,96076,Exact +GARD:0019308,ICD-10,Q87.3,NTBT +GARD:0019309,SNOMED-CT,718188007,NA +GARD:0019309,Orphanet,96092,Exact +GARD:0019309,ICD-10,Q99.8,NTBT +GARD:0019310,SNOMED-CT,763272003,NA +GARD:0019310,Orphanet,96094,Exact +GARD:0019310,ICD-10,Q92.3,NTBT +GARD:0019311,Orphanet,96095,Exact +GARD:0019311,ICD-10,Q92.3,NTBT +GARD:0019311,SNOMED-CT,778073001,NA +GARD:0019312,Orphanet,96096,Exact +GARD:0019312,ICD-10,Q92.3,NTBT +GARD:0019312,SNOMED-CT,763273008,NA +GARD:0019313,Orphanet,96097,Exact +GARD:0019313,ICD-10,Q92.3,NTBT +GARD:0019313,SNOMED-CT,763274002,NA +GARD:0019314,Orphanet,96098,Exact +GARD:0019314,ICD-10,Q92.3,NTBT +GARD:0019314,UMLS,C0795817,Exact +GARD:0019314,SNOMED-CT,763275001,NA +GARD:0019315,SNOMED-CT,763277009,NA +GARD:0019315,Orphanet,96100,Exact +GARD:0019315,ICD-10,Q92.3,NTBT +GARD:0019316,Orphanet,96101,Exact +GARD:0019316,ICD-10,Q92.3,NTBT +GARD:0019316,SNOMED-CT,764520001,NA +GARD:0019317,Orphanet,96102,Exact +GARD:0019317,UMLS,C2931731,Exact +GARD:0019317,MeSH,C538087,Exact +GARD:0019317,ICD-10,Q92.3,NTBT +GARD:0019317,UMLS,C2931728,Exact +GARD:0019317,SNOMED-CT,718689000,NA +GARD:0019318,Orphanet,96103,Exact +GARD:0019318,UMLS,C2931797,Exact +GARD:0019318,MeSH,C538294,Exact +GARD:0019318,ICD-10,Q92.3,NTBT +GARD:0019318,SNOMED-CT,764447009,NA +GARD:0019319,SNOMED-CT,764454003,NA +GARD:0019319,Orphanet,96105,Exact +GARD:0019319,ICD-10,Q92.3,NTBT +GARD:0019320,Orphanet,96106,Exact +GARD:0019320,ICD-10,Q92.3,NTBT +GARD:0019320,SNOMED-CT,764459008,NA +GARD:0019321,SNOMED-CT,764500002,NA +GARD:0019321,Orphanet,96107,Exact +GARD:0019321,ICD-10,Q92.3,NTBT +GARD:0019322,Orphanet,96109,Exact +GARD:0019322,SNOMED-CT,764512003,NA +GARD:0019322,ICD-10,Q92.3,NTBT +GARD:0019323,Orphanet,96112,Exact +GARD:0019323,ICD-10,Q92.3,NTBT +GARD:0019323,SNOMED-CT,764997000,NA +GARD:0019324,Orphanet,96123,Exact +GARD:0019324,ICD-10,Q93.0,NTBT +GARD:0019324,SNOMED-CT,787411009,NA +GARD:0019325,Orphanet,96126,Exact +GARD:0019325,ICD-10,Q93.5,NTBT +GARD:0019325,SNOMED-CT,782674007,NA +GARD:0019326,Orphanet,96129,Exact +GARD:0019326,ICD-10,Q93.5,NTBT +GARD:0019326,SNOMED-CT,770411000,NA +GARD:0019327,Orphanet,96145,Exact +GARD:0019327,ICD-10,Q93.5,NTBT +GARD:0019327,SNOMED-CT,782673001,NA +GARD:0019328,Orphanet,96149,Exact +GARD:0019328,ICD-10,Q93.5,NTBT +GARD:0019329,Orphanet,96150,Exact +GARD:0019329,ICD-10,Q93.5,NTBT +GARD:0019329,SNOMED-CT,770410004,NA +GARD:0019330,SNOMED-CT,782694003,NA +GARD:0019330,Orphanet,96160,Exact +GARD:0019330,ICD-10,Q93.5,NTBT +GARD:0019331,SNOMED-CT,766237006,NA +GARD:0019331,Orphanet,96179,Exact +GARD:0019331,ICD-10,Q99.8,NTBT +GARD:0019332,Orphanet,96180,Exact +GARD:0019332,ICD-10,Q99.8,NTBT +GARD:0019332,SNOMED-CT,766238001,NA +GARD:0019333,SNOMED-CT,766239009,NA +GARD:0019333,Orphanet,96181,Exact +GARD:0019333,ICD-10,Q99.8,NTBT +GARD:0019334,Orphanet,96182,Exact +GARD:0019334,ICD-10,Q87.1,NTBT +GARD:0019335,Orphanet,96183,Exact +GARD:0019335,ICD-10,Q99.8,NTBT +GARD:0019335,SNOMED-CT,766240006,NA +GARD:0019336,Orphanet,96185,Exact +GARD:0019336,SNOMED-CT,773299000,NA +GARD:0019336,ICD-10,Q99.8,NTBT +GARD:0019337,Orphanet,96187,Exact +GARD:0019337,SNOMED-CT,782691006,NA +GARD:0019337,ICD-10,Q99.8,NTBT +GARD:0019338,Orphanet,96188,Exact +GARD:0019338,ICD-10,Q99.8,NTBT +GARD:0019338,SNOMED-CT,782692004,NA +GARD:0019339,SNOMED-CT,770669004,NA +GARD:0019339,Orphanet,96190,Exact +GARD:0019339,ICD-10,Q99.8,NTBT +GARD:0019340,Orphanet,96191,Exact +GARD:0019340,ICD-10,Q99.8,NTBT +GARD:0019340,SNOMED-CT,770670003,NA +GARD:0019341,Orphanet,96192,Exact +GARD:0019341,ICD-10,Q99.8,NTBT +GARD:0019341,SNOMED-CT,766721001,NA +GARD:0019342,Orphanet,96193,Exact +GARD:0019342,ICD-10,Q87.3,NTBT +GARD:0019343,Orphanet,96194,Exact +GARD:0019343,ICD-10,Q99.8,NTBT +GARD:0019343,SNOMED-CT,715736008,NA +GARD:0019344,Orphanet,96195,Exact +GARD:0019344,ICD-10,Q99.8,NTBT +GARD:0019344,SNOMED-CT,766720000,NA +GARD:0019345,Orphanet,96201,Exact +GARD:0019345,ICD-10,Q99.8,NTBT +GARD:0019345,SNOMED-CT,766760004,NA +GARD:0019346,Orphanet,96210,Exact +GARD:0019347,SNOMED-CT,87380008,NA +GARD:0019347,Orphanet,96269,Exact +GARD:0019347,ICD-10,Q52.0,NTBT +GARD:0019348,SNOMED-CT,72991005,NA +GARD:0019348,Orphanet,96321,Exact +GARD:0019348,MeSH,D011123,Exact +GARD:0019348,ICD-10,Q92.7,Exact +GARD:0019348,UMLS,C0032578,Exact +GARD:0019348,ICD-11,LD42,Exact +GARD:0019349,Orphanet,96325,Exact +GARD:0019349,ICD-10,Q98.6,NTBT +GARD:0019350,Orphanet,96333,Exact +GARD:0019351,Orphanet,96346,Exact +GARD:0019351,UMLS,C3495676,Exact +GARD:0019351,MeSH,C537771,Exact +GARD:0019351,SNOMED-CT,33225004,NA +GARD:0019352,Orphanet,96369,Exact +GARD:0019352,ICD-10,F20.8,NTBT +GARD:0019353,SNOMED-CT,10347006,NA +GARD:0019353,Orphanet,97230,Exact +GARD:0019353,UMLS,C0263610,Exact +GARD:0019353,ICD-11,EB01.Y,NTBT +GARD:0019353,ICD-10,L56.3,Exact +GARD:0019353,MedDRA,10041307,Exact +GARD:0019354,SNOMED-CT,34513009,NA +GARD:0019354,Orphanet,97240,Exact +GARD:0019354,ICD-10,G71.2,NTBT +GARD:0019354,UMLS,C0270969,Exact +GARD:0019355,SNOMED-CT,447739003,NA +GARD:0019355,Orphanet,97252,Exact +GARD:0019355,ICD-10,Q07.8,NTBT +GARD:0019355,UMLS,C3164501,Exact +GARD:0019356,Orphanet,97261,Exact +GARD:0019356,ICD-10,E16.8,ND (not yet decided/unable to decide) +GARD:0019356,ICD-10,C25.9,ND (not yet decided/unable to decide) +GARD:0019357,Orphanet,97275,Exact +GARD:0019357,UMLS,C0014038,Exact +GARD:0019357,MeSH,D004660,Exact +GARD:0019357,MedDRA,10014581,Exact +GARD:0019358,SNOMED-CT,255039001,NA +GARD:0019358,Orphanet,97278,Exact +GARD:0019358,ICD-10,E16.8,NTBT +GARD:0019359,Orphanet,97285,Exact +GARD:0019359,ICD-10,C85.7,NTBT +GARD:0019359,SNOMED-CT,278051002,NA +GARD:0019360,Orphanet,97287,Exact +GARD:0019360,ICD-10,D38.1,NTBT +GARD:0019360,SNOMED-CT,707594002,NA +GARD:0019361,Orphanet,97289,Exact +GARD:0019361,ICD-10,C37,NTBT +GARD:0019362,SNOMED-CT,89138009,NA +GARD:0019362,Orphanet,97292,Exact +GARD:0019362,UMLS,C0036980,Exact +GARD:0019362,ICD-11,MG40.0,Exact +GARD:0019362,ICD-10,R57.0,Exact +GARD:0019362,MedDRA,10007625,Exact +GARD:0019363,Orphanet,97293,Exact +GARD:0019363,UMLS,C0004997,Exact +GARD:0019364,SNOMED-CT,430506003,NA +GARD:0019364,Orphanet,97335,Exact +GARD:0019364,UMLS,C0029376,Exact +GARD:0019364,MedDRA,10031130,Exact +GARD:0019364,ICD-10,M93.2,NTBT +GARD:0019365,Orphanet,97336,Exact +GARD:0019365,ICD-10,M92.0,NTBT +GARD:0019365,SNOMED-CT,268025003,NA +GARD:0019366,Orphanet,97337,Exact +GARD:0019366,ICD-10,M92.4,NTBT +GARD:0019366,UMLS,C0264096,Exact +GARD:0019366,MedDRA,10063585,Exact +GARD:0019366,UMLS,C1504517,Exact +GARD:0019366,SNOMED-CT,203389008,NA +GARD:0019367,Orphanet,97338,Exact +GARD:0019367,ICD-10,C43.7,BTNT +GARD:0019367,UMLS,C0206651,Exact +GARD:0019367,ICD-10,C43.6,BTNT +GARD:0019367,SNOMED-CT,402561003,NA +GARD:0019368,Orphanet,97339,Exact +GARD:0019368,ICD-10,Q28.3,NTBT +GARD:0019368,SNOMED-CT,703193000,NA +GARD:0019369,Orphanet,97341,Exact +GARD:0019369,SNOMED-CT,719297006,NA +GARD:0019370,Orphanet,97349,Exact +GARD:0019370,UMLS,C0030568,Exact +GARD:0019370,ICD-10,G21.3,Exact +GARD:0019370,ICD-11,8A00.22,NTBT +GARD:0019370,SNOMED-CT,19972008,NA +GARD:0019371,SNOMED-CT,230283005,NA +GARD:0019371,Orphanet,97353,Exact +GARD:0019371,ICD-10,F01.8,NTBT +GARD:0019372,Orphanet,97355,Exact +GARD:0019372,ICD-10,F02.3*,NTBT +GARD:0019372,ICD-10,G20+,NTBT +GARD:0019372,SNOMED-CT,715737004,NA +GARD:0019373,Orphanet,97361,Exact +GARD:0019373,UMLS,C0431691,Exact +GARD:0019373,ICD-11,LB30.0Y,NTBT +GARD:0019373,ICD-10,Q60.3,Exact +GARD:0019374,Orphanet,97362,Exact +GARD:0019374,SNOMED-CT,268232000,NA +GARD:0019374,ICD-11,LB30.0Y,NTBT +GARD:0019374,ICD-10,Q60.4,Exact +GARD:0019374,UMLS,C0431692,Exact +GARD:0019375,Orphanet,97363,Exact +GARD:0019375,UMLS,C1567426,Exact +GARD:0019375,MeSH,D021782,Exact +GARD:0019375,ICD-10,Q61.4,NTBT +GARD:0019376,Orphanet,97366,Exact +GARD:0019376,SNOMED-CT,86463003,NA +GARD:0019377,Orphanet,97367,Exact +GARD:0019377,ICD-10,Q63.8,NTBT +GARD:0019378,Orphanet,97368,Exact +GARD:0019378,ICD-10,Q63.8,NTBT +GARD:0019379,Orphanet,97563,Exact +GARD:0019379,ICD-10,N05.7,NTBT +GARD:0019380,Orphanet,97564,Exact +GARD:0019380,ICD-10,N05.7,NTBT +GARD:0019381,SNOMED-CT,271432005,NA +GARD:0019381,Orphanet,97598,Exact +GARD:0019381,ICD-10,Q27.1,Exact +GARD:0019381,UMLS,C0495523,Exact +GARD:0019381,ICD-11,LA90.40,Exact +GARD:0019382,SNOMED-CT,770563005,NA +GARD:0019382,Orphanet,97678,Exact +GARD:0019382,ICD-10,Q99.8,NTBT +GARD:0019383,Orphanet,97944,Exact +GARD:0019384,Orphanet,97945,Exact +GARD:0019385,Orphanet,97957,Exact +GARD:0019386,Orphanet,98010,Exact +GARD:0019386,UMLS,C0597039,Exact +GARD:0019386,SNOMED-CT,128116006,NA +GARD:0019387,Orphanet,98022,Exact +GARD:0019387,UMLS,C0393735,Exact +GARD:0019388,Orphanet,98027,Exact +GARD:0019389,Orphanet,98033,Exact +GARD:0019390,Orphanet,98038,Exact +GARD:0019391,Orphanet,98039,Exact +GARD:0019392,Orphanet,98041,Exact +GARD:0019393,Orphanet,98043,Exact +GARD:0019394,Orphanet,98044,Exact +GARD:0019395,Orphanet,98045,Exact +GARD:0019396,Orphanet,98048,Exact +GARD:0019396,UMLS,C0021364,Exact +GARD:0019397,Orphanet,98049,Exact +GARD:0019398,Orphanet,98052,Exact +GARD:0019398,UMLS,C1504369,Exact +GARD:0019399,Orphanet,98054,Exact +GARD:0019400,Orphanet,98056,Exact +GARD:0019401,Orphanet,98057,Exact +GARD:0019401,UMLS,C0375111,Exact +GARD:0019402,Orphanet,98058,Exact +GARD:0019402,UMLS,C0042076,Exact +GARD:0019402,UMLS,C0751571,Exact +GARD:0019403,Orphanet,98059,Exact +GARD:0019403,UMLS,C0685938,Exact +GARD:0019403,UMLS,C0017185,Exact +GARD:0019403,UMLS,C0012243,Exact +GARD:0019404,Orphanet,98060,Exact +GARD:0019404,UMLS,C0035244,Exact +GARD:0019404,UMLS,C0154131,Exact +GARD:0019405,Orphanet,98061,Exact +GARD:0019406,Orphanet,98062,Exact +GARD:0019406,UMLS,C0027766,Exact +GARD:0019407,Orphanet,98063,Exact +GARD:0019407,UMLS,C0017416,Exact +GARD:0019407,UMLS,C0699889,Exact +GARD:0019408,Orphanet,98074,Exact +GARD:0019409,Orphanet,98078,Exact +GARD:0019410,Orphanet,98086,Exact +GARD:0019411,Orphanet,98087,Exact +GARD:0019412,Orphanet,98095,Exact +GARD:0019413,Orphanet,98096,Exact +GARD:0019414,Orphanet,98097,Exact +GARD:0019414,ICD-10,G11.3,Exact +GARD:0019415,Orphanet,98098,Exact +GARD:0019416,Orphanet,98099,Exact +GARD:0019417,Orphanet,98127,Exact +GARD:0019418,Orphanet,98130,Exact +GARD:0019418,UMLS,C0041107,Exact +GARD:0019419,Orphanet,98131,Exact +GARD:0019420,Orphanet,98132,Exact +GARD:0019421,Orphanet,98141,Exact +GARD:0019421,ICD-10,Q93.1,BTNT +GARD:0019421,ICD-10,Q93.0,BTNT +GARD:0019422,Orphanet,98142,Exact +GARD:0019422,ICD-10,Q93.4,BTNT +GARD:0019422,ICD-10,Q93.5,BTNT +GARD:0019422,ICD-10,Q93.3,BTNT +GARD:0019423,Orphanet,98152,Exact +GARD:0019423,ICD-10,Q99.8,NTBT +GARD:0019424,Orphanet,98153,Exact +GARD:0019424,ICD-11,LD45.0,Exact +GARD:0019424,ICD-10,Q99.8,NTBT +GARD:0019425,Orphanet,98154,Exact +GARD:0019425,ICD-10,Q99.8,NTBT +GARD:0019425,ICD-11,LD45.1,Exact +GARD:0019426,Orphanet,98155,Exact +GARD:0019426,UMLS,C0036868,Exact +GARD:0019426,UMLS,C0949683,Exact +GARD:0019426,SNOMED-CT,95462004,NA +GARD:0019427,Orphanet,98156,Exact +GARD:0019428,Orphanet,98157,Exact +GARD:0019429,Orphanet,98158,Exact +GARD:0019429,ICD-10,Q98.6,NTBT +GARD:0019429,ICD-11,LD53,Exact +GARD:0019430,Orphanet,98159,Exact +GARD:0019430,ICD-10,Q99.8,NTBT +GARD:0019431,Orphanet,98196,Exact +GARD:0019432,Orphanet,98203,Exact +GARD:0019432,ICD-10,G24.1,NTBT +GARD:0019433,Orphanet,98252,Exact +GARD:0019433,MedDRA,10058805,Exact +GARD:0019433,UMLS,C0596773,Exact +GARD:0019433,SNOMED-CT,312215006,NA +GARD:0019434,Orphanet,98255,Exact +GARD:0019435,Orphanet,98257,Exact +GARD:0019435,ICD-10,G40.4,NTBT +GARD:0019436,Orphanet,98258,Exact +GARD:0019436,ICD-10,G40.4,NTBT +GARD:0019437,Orphanet,98259,Exact +GARD:0019437,ICD-10,G40.4,NTBT +GARD:0019438,Orphanet,98260,Exact +GARD:0019438,ICD-10,G40.4,NTBT +GARD:0019439,Orphanet,98267,Exact +GARD:0019439,ICD-10,E66.8,NTBT +GARD:0019440,Orphanet,98282,Exact +GARD:0019440,UMLS,C1959632,Exact +GARD:0019440,UMLS,C1136084,Exact +GARD:0019440,SNOMED-CT,415111003,NA +GARD:0019441,Orphanet,98287,Exact +GARD:0019442,Orphanet,98288,Exact +GARD:0019443,Orphanet,98290,Exact +GARD:0019443,ICD-10,D47.9,NTBT +GARD:0019444,Orphanet,98301,Exact +GARD:0019445,Orphanet,98313,Exact +GARD:0019446,Orphanet,98343,Exact +GARD:0019446,ICD-10,N46,NTBT +GARD:0019447,Orphanet,98349,Exact +GARD:0019447,ICD-10,Q82.8,NTBT +GARD:0019448,Orphanet,98352,Exact +GARD:0019448,ICD-10,Q82.8,NTBT +GARD:0019449,Orphanet,98353,Exact +GARD:0019449,ICD-10,Q82.8,NTBT +GARD:0019450,Orphanet,98356,Exact +GARD:0019450,ICD-10,Q82.8,NTBT +GARD:0019451,Orphanet,98357,Exact +GARD:0019451,ICD-10,Q82.8,NTBT +GARD:0019452,Orphanet,98360,Exact +GARD:0019452,ICD-10,D50.8,NTBT +GARD:0019453,Orphanet,98362,Exact +GARD:0019453,ICD-10,D64.0,Exact +GARD:0019453,ICD-11,3A72.0,Exact +GARD:0019453,UMLS,C0221018,Exact +GARD:0019454,Orphanet,98363,Exact +GARD:0019454,UMLS,C0002878,Exact +GARD:0019455,Orphanet,98364,Exact +GARD:0019456,Orphanet,98365,Exact +GARD:0019456,ICD-11,3A10.Y,NTBT +GARD:0019456,ICD-10,D58.8,Exact +GARD:0019456,UMLS,C1262483,Exact +GARD:0019456,SNOMED-CT,14087004,NA +GARD:0019457,Orphanet,98366,Exact +GARD:0019457,ICD-10,E78.6,NTBT +GARD:0019457,UMLS,C0687751,Exact +GARD:0019458,Orphanet,98369,Exact +GARD:0019458,ICD-10,D55.0,BTNT +GARD:0019458,ICD-10,D55.3,BTNT +GARD:0019458,ICD-10,D55.1,BTNT +GARD:0019458,ICD-10,D55.2,BTNT +GARD:0019458,ICD-10,D55.9,BTNT +GARD:0019458,ICD-10,D55.8,BTNT +GARD:0019459,Orphanet,98370,Exact +GARD:0019459,ICD-11,3A10.0,Exact +GARD:0019459,ICD-10,D55.1,Exact +GARD:0019460,Orphanet,98372,Exact +GARD:0019460,ICD-10,D55.2,Exact +GARD:0019460,ICD-11,3A10.Y,NTBT +GARD:0019461,Orphanet,98374,Exact +GARD:0019461,ICD-11,3A10.Y,NTBT +GARD:0019461,ICD-10,D55.3,Exact +GARD:0019462,Orphanet,98396,Exact +GARD:0019462,ICD-10,D51.3,BTNT +GARD:0019462,ICD-10,D51.2,BTNT +GARD:0019462,ICD-10,D51.0,BTNT +GARD:0019462,ICD-10,D51.9,BTNT +GARD:0019462,ICD-10,D51.8,BTNT +GARD:0019462,ICD-10,D51.1,BTNT +GARD:0019463,Orphanet,98408,Exact +GARD:0019463,ICD-10,D52.8,NTBT +GARD:0019464,Orphanet,98415,Exact +GARD:0019464,ICD-10,D53.0,NTBT +GARD:0019464,ICD-10,D53.8,NTBT +GARD:0019464,ICD-10,D53.2,NTBT +GARD:0019464,ICD-10,D53.1,NTBT +GARD:0019464,ICD-10,D53.9,NTBT +GARD:0019465,Orphanet,98421,Exact +GARD:0019465,ICD-10,D60.0,NTBT +GARD:0019465,UMLS,C0034902,Exact +GARD:0019465,UMLS,C0281963,Exact +GARD:0019465,ICD-10,D60.1,NTBT +GARD:0019465,MedDRA,10038184,Exact +GARD:0019465,ICD-10,D60.8,NTBT +GARD:0019465,ICD-10,D60.9,NTBT +GARD:0019466,Orphanet,98427,Exact +GARD:0019466,MedDRA,10036051,Exact +GARD:0019466,MeSH,D011086,Exact +GARD:0019466,UMLS,C0032461,Exact +GARD:0019467,Orphanet,98428,Exact +GARD:0019467,MedDRA,10036062,Exact +GARD:0019467,ICD-10,D75.1,Exact +GARD:0019467,UMLS,C1318533,Exact +GARD:0019468,Orphanet,98429,Exact +GARD:0019468,UMLS,C0005779,Exact +GARD:0019469,Orphanet,98455,Exact +GARD:0019469,ICD-11,3B62.00,Exact +GARD:0019469,ICD-10,D69.1,NTBT +GARD:0019470,Orphanet,98456,Exact +GARD:0019470,ICD-11,3B62.3,Exact +GARD:0019470,ICD-10,D69.1,NTBT +GARD:0019471,Orphanet,98472,Exact +GARD:0019471,UMLS,C1533847,Exact +GARD:0019471,MedDRA,10028641,Exact +GARD:0019471,MeSH,D009135,Exact +GARD:0019472,Orphanet,98486,Exact +GARD:0019472,MedDRA,10068836,Exact +GARD:0019472,UMLS,C0270984,Exact +GARD:0019473,Orphanet,98491,Exact +GARD:0019473,ICD-10,G70.2,NTBT +GARD:0019473,MeSH,D020511,Exact +GARD:0019473,ICD-10,G70.8,NTBT +GARD:0019473,ICD-10,G70.0,NTBT +GARD:0019473,ICD-10,G70.1,NTBT +GARD:0019473,ICD-10,G70.9,NTBT +GARD:0019473,UMLS,C0751950,Exact +GARD:0019474,Orphanet,98494,Exact +GARD:0019475,Orphanet,98495,Exact +GARD:0019475,ICD-10,G70.2,NTBT +GARD:0019476,Orphanet,98496,Exact +GARD:0019476,UMLS,C0031117,Exact +GARD:0019477,Orphanet,98503,Exact +GARD:0019477,MedDRA,10028003,Exact +GARD:0019477,UMLS,C0085084,Exact +GARD:0019477,ICD-10,G12.2,Exact +GARD:0019477,MeSH,D016472,Exact +GARD:0019477,UMLS,C0154681,Exact +GARD:0019478,Orphanet,98505,Exact +GARD:0019479,Orphanet,98506,Exact +GARD:0019480,Orphanet,98514,Exact +GARD:0019481,Orphanet,98516,Exact +GARD:0019481,ICD-10,Q04.3,NTBT +GARD:0019482,Orphanet,98518,Exact +GARD:0019483,Orphanet,98519,Exact +GARD:0019484,Orphanet,98534,Exact +GARD:0019485,Orphanet,98535,Exact +GARD:0019485,ICD-10,G31.0,NTBT +GARD:0019486,Orphanet,98538,Exact +GARD:0019487,Orphanet,98539,Exact +GARD:0019488,Orphanet,98540,Exact +GARD:0019489,Orphanet,98542,Exact +GARD:0019490,Orphanet,98543,Exact +GARD:0019491,Orphanet,98544,Exact +GARD:0019492,Orphanet,98549,Exact +GARD:0019493,Orphanet,98555,Exact +GARD:0019493,ICD-10,Q11.1,BTNT +GARD:0019493,ICD-10,Q11.0,BTNT +GARD:0019493,ICD-10,Q11.2,BTNT +GARD:0019494,Orphanet,98557,Exact +GARD:0019495,Orphanet,98560,Exact +GARD:0019495,UMLS,C0015423,Exact +GARD:0019496,Orphanet,98561,Exact +GARD:0019497,Orphanet,98563,Exact +GARD:0019497,ICD-10,Q10.3,NTBT +GARD:0019498,Orphanet,98564,Exact +GARD:0019499,Orphanet,98565,Exact +GARD:0019500,Orphanet,98566,Exact +GARD:0019501,Orphanet,98567,Exact +GARD:0019502,Orphanet,98570,Exact +GARD:0019502,UMLS,C0266578,Exact +GARD:0019502,ICD-10,Q10.1,Exact +GARD:0019502,ICD-11,LA14.03,Exact +GARD:0019503,Orphanet,98571,Exact +GARD:0019503,ICD-10,H02.1,NTBT +GARD:0019504,Orphanet,98574,Exact +GARD:0019505,Orphanet,98575,Exact +GARD:0019505,ICD-10,Q10.3,NTBT +GARD:0019505,UMLS,C0423113,Exact +GARD:0019506,Orphanet,98576,Exact +GARD:0019506,ICD-10,Q10.3,NTBT +GARD:0019507,Orphanet,98578,Exact +GARD:0019507,UMLS,C0005745,Exact +GARD:0019507,MeSH,D001763,Exact +GARD:0019507,MedDRA,10037272,Exact +GARD:0019507,MedDRA,10015995,Exact +GARD:0019507,UMLS,C0033377,Exact +GARD:0019508,Orphanet,98594,Exact +GARD:0019509,Orphanet,98602,Exact +GARD:0019509,UMLS,C0022904,Exact +GARD:0019510,Orphanet,98604,Exact +GARD:0019510,UMLS,C1863199,Exact +GARD:0019511,Orphanet,98605,Exact +GARD:0019512,Orphanet,98609,Exact +GARD:0019513,Orphanet,98610,Exact +GARD:0019513,UMLS,C0009759,Exact +GARD:0019514,Orphanet,98618,Exact +GARD:0019514,UMLS,C0034951,Exact +GARD:0019515,Orphanet,98621,Exact +GARD:0019516,Orphanet,98622,Exact +GARD:0019517,Orphanet,98623,Exact +GARD:0019518,Orphanet,98625,Exact +GARD:0019518,UMLS,C2315777,Exact +GARD:0019518,ICD-10,H18.5,NTBT +GARD:0019519,SNOMED-CT,231931001,NA +GARD:0019519,Orphanet,98626,Exact +GARD:0019519,UMLS,C0038457,Exact +GARD:0019519,ICD-10,H18.5,NTBT +GARD:0019520,Orphanet,98627,Exact +GARD:0019520,ICD-10,H18.5,NTBT +GARD:0019521,Orphanet,98628,Exact +GARD:0019522,Orphanet,98631,Exact +GARD:0019523,Orphanet,98635,Exact +GARD:0019524,Orphanet,98638,Exact +GARD:0019525,Orphanet,98639,Exact +GARD:0019526,Orphanet,98640,Exact +GARD:0019526,UMLS,C0086543,Exact +GARD:0019527,Orphanet,98641,Exact +GARD:0019528,Orphanet,98642,Exact +GARD:0019529,Orphanet,98644,Exact +GARD:0019530,Orphanet,98646,Exact +GARD:0019531,Orphanet,98648,Exact +GARD:0019532,Orphanet,98649,Exact +GARD:0019533,Orphanet,98650,Exact +GARD:0019534,Orphanet,98652,Exact +GARD:0019535,Orphanet,98653,Exact +GARD:0019535,ICD-10,Q12.1,NTBT +GARD:0019536,Orphanet,98655,Exact +GARD:0019537,Orphanet,98658,Exact +GARD:0019537,ICD-10,H53.5,NTBT +GARD:0019538,Orphanet,98661,Exact +GARD:0019539,Orphanet,98668,Exact +GARD:0019540,Orphanet,98671,Exact +GARD:0019540,MedDRA,10061323,Exact +GARD:0019541,Orphanet,98681,Exact +GARD:0019542,Orphanet,98683,Exact +GARD:0019543,Orphanet,98684,Exact +GARD:0019544,Orphanet,98685,Exact +GARD:0019545,Orphanet,98686,Exact +GARD:0019545,ICD-10,H49.1,NTBT +GARD:0019546,Orphanet,98687,Exact +GARD:0019547,Orphanet,98688,Exact +GARD:0019548,Orphanet,98706,Exact +GARD:0019548,ICD-10,E70.3,Exact +GARD:0019549,Orphanet,98715,Exact +GARD:0019549,MedDRA,10046851,Exact +GARD:0019549,MeSH,D014605,Exact +GARD:0019549,UMLS,C0042164,Exact +GARD:0019550,Orphanet,98716,Exact +GARD:0019551,Orphanet,98717,Exact +GARD:0019552,Orphanet,98718,Exact +GARD:0019553,Orphanet,98719,Exact +GARD:0019554,Orphanet,98720,Exact +GARD:0019555,Orphanet,98721,Exact +GARD:0019555,ICD-10,Q22.9,BTNT +GARD:0019555,ICD-10,Q22.4,BTNT +GARD:0019555,ICD-10,Q22.5,BTNT +GARD:0019555,ICD-10,Q22.8,BTNT +GARD:0019556,Orphanet,98724,Exact +GARD:0019556,UMLS,C0948632,Exact +GARD:0019556,MedDRA,10061080,Exact +GARD:0019557,Orphanet,98725,Exact +GARD:0019557,UMLS,C0345043,Exact +GARD:0019557,ICD-10,Q25.4,NTBT +GARD:0019557,SNOMED-CT,253640002,NA +GARD:0019558,Orphanet,98727,Exact +GARD:0019558,ICD-10,Q21.1,NTBT +GARD:0019559,Orphanet,98729,Exact +GARD:0019560,Orphanet,98731,Exact +GARD:0019560,MeSH,D001164,Exact +GARD:0019560,MedDRA,10003226,Exact +GARD:0019560,UMLS,C0003855,Exact +GARD:0019561,Orphanet,98733,Exact +GARD:0019562,Orphanet,98737,Exact +GARD:0019563,Orphanet,98738,Exact +GARD:0019564,Orphanet,98739,Exact +GARD:0019565,Orphanet,98740,Exact +GARD:0019566,Orphanet,98741,Exact +GARD:0019567,Orphanet,98742,Exact +GARD:0019568,Orphanet,98743,Exact +GARD:0019569,Orphanet,98744,Exact +GARD:0019570,Orphanet,98745,Exact +GARD:0019571,Orphanet,98746,Exact +GARD:0019572,Orphanet,98747,Exact +GARD:0019573,Orphanet,98748,Exact +GARD:0019574,Orphanet,98749,Exact +GARD:0019575,Orphanet,98750,Exact +GARD:0019576,Orphanet,98793,Exact +GARD:0019576,ICD-10,Q87.1,NTBT +GARD:0019577,Orphanet,98794,Exact +GARD:0019577,ICD-10,Q93.5,NTBT +GARD:0019578,Orphanet,98795,Exact +GARD:0019578,ICD-10,Q93.5,NTBT +GARD:0019579,SNOMED-CT,766708008,NA +GARD:0019579,Orphanet,98797,Exact +GARD:0019579,ICD-10,Q98.6,NTBT +GARD:0019580,SNOMED-CT,770542008,NA +GARD:0019580,Orphanet,98798,Exact +GARD:0019580,ICD-10,Q98.6,NTBT +GARD:0019581,Orphanet,98815,Exact +GARD:0019581,SNOMED-CT,230387008,NA +GARD:0019581,ICD-10,G40.0,NTBT +GARD:0019582,Orphanet,98816,Exact +GARD:0019582,ICD-10,G40.0,NTBT +GARD:0019583,Orphanet,98824,Exact +GARD:0019583,MedDRA,10054651,Exact +GARD:0019583,ICD-10,C92.2,Exact +GARD:0019583,ICD-11,2A41,Exact +GARD:0019583,SNOMED-CT,277589003,NA +GARD:0019583,UMLS,C0349640,Exact +GARD:0019583,UMLS,C1292772,Exact +GARD:0019583,MeSH,D054438,Exact +GARD:0019584,Orphanet,98825,Exact +GARD:0019584,ICD-11,2A44,Exact +GARD:0019584,ICD-10,C94.6,Exact +GARD:0019584,SNOMED-CT,447596005,NA +GARD:0019585,Orphanet,98826,Exact +GARD:0019585,MedDRA,10038269,Exact +GARD:0019585,ICD-11,2A30,Exact +GARD:0019585,MeSH,D000753,Exact +GARD:0019585,UMLS,C0002893,Exact +GARD:0019585,ICD-10,D46.7,NTBT +GARD:0019585,SNOMED-CT,109996008,NA +GARD:0019586,Orphanet,98827,Exact +GARD:0019586,ICD-10,D46.7,NTBT +GARD:0019586,ICD-11,2A37,Exact +GARD:0019587,SNOMED-CT,1157157006,NA +GARD:0019587,Orphanet,98831,Exact +GARD:0019587,ICD-11,XH1E41,Exact +GARD:0019587,ICD-10,C92.6,Exact +GARD:0019587,UMLS,C1292775,Exact +GARD:0019587,ICD-11,2A60.0,NTBT +GARD:0019588,SNOMED-CT,359631009,NA +GARD:0019588,Orphanet,98832,Exact +GARD:0019588,UMLS,C0522631,Exact +GARD:0019588,ICD-10,C92.0,NTBT +GARD:0019589,Orphanet,98838,Exact +GARD:0019589,UMLS,C1292754,Exact +GARD:0019589,MedDRA,10036710,Exact +GARD:0019589,ICD-10,C83.3,NTBT +GARD:0019589,UMLS,C0855152,Exact +GARD:0019589,SNOMED-CT,444910004,NA +GARD:0019590,Orphanet,98839,Exact +GARD:0019590,ICD-10,C83.3,NTBT +GARD:0019590,ICD-11,2A81.1,Exact +GARD:0019590,MedDRA,10069643,Exact +GARD:0019590,SNOMED-CT,1157162007,NA +GARD:0019591,SNOMED-CT,118608000,NA +GARD:0019591,Orphanet,98843,Exact +GARD:0019591,ICD-10,C81.1,Exact +GARD:0019591,UMLS,C0152268,Exact +GARD:0019592,Orphanet,98844,Exact +GARD:0019592,UMLS,C0152266,Exact +GARD:0019592,ICD-10,C81.2,Exact +GARD:0019592,SNOMED-CT,118609008,NA +GARD:0019593,Orphanet,98845,Exact +GARD:0019593,UMLS,C1266194,Exact +GARD:0019593,MedDRA,10020231,Exact +GARD:0019593,ICD-10,C81.4,Exact +GARD:0019593,MeSH,D006689,Exact +GARD:0019593,SNOMED-CT,118607005,NA +GARD:0019594,Orphanet,98846,Exact +GARD:0019594,ICD-10,C81.3,Exact +GARD:0019594,UMLS,C0152267,Exact +GARD:0019594,SNOMED-CT,118610003,NA +GARD:0019595,SNOMED-CT,70910003,NA +GARD:0019595,Orphanet,98848,Exact +GARD:0019595,UMLS,C0272203,Exact +GARD:0019595,ICD-10,D47.0,NTBT +GARD:0019595,MedDRA,10056452,Exact +GARD:0019596,Orphanet,98849,Exact +GARD:0019596,SNOMED-CT,397015000,NA +GARD:0019596,UMLS,C1301365,Exact +GARD:0019596,ICD-10,C96.2,NTBT +GARD:0019597,Orphanet,98850,Exact +GARD:0019597,SNOMED-CT,716655008,NA +GARD:0019597,MedDRA,10056453,Exact +GARD:0019597,ICD-10,C96.2,NTBT +GARD:0019597,UMLS,C1112486,Exact +GARD:0019598,Orphanet,98851,Exact +GARD:0019598,MeSH,D007946,Exact +GARD:0019598,UMLS,C0023461,Exact +GARD:0019598,MedDRA,10056450,Exact +GARD:0019598,ICD-11,2A21.00,Exact +GARD:0019598,ICD-10,C94.3,Exact +GARD:0019598,SNOMED-CT,110002002,NA +GARD:0019599,Orphanet,98888,Exact +GARD:0019599,ICD-10,G11.4,NTBT +GARD:0019600,Orphanet,98910,Exact +GARD:0019600,ICD-10,G71.8,NTBT +GARD:0019601,SNOMED-CT,716722005,NA +GARD:0019601,Orphanet,98917,Exact +GARD:0019601,ICD-10,G61.0,NTBT +GARD:0019602,Orphanet,98918,Exact +GARD:0019602,SNOMED-CT,715770009,NA +GARD:0019602,ICD-10,G61.0,NTBT +GARD:0019603,Orphanet,98922,Exact +GARD:0019603,ICD-10,Q03.1,NTBT +GARD:0019603,SNOMED-CT,609529006,NA +GARD:0019604,Orphanet,98933,Exact +GARD:0019604,ICD-11,8D87.01,Exact +GARD:0019604,ICD-10,G23.2,Exact +GARD:0019605,Orphanet,98946,Exact +GARD:0019605,ICD-11,LA14.00,Exact +GARD:0019605,UMLS,C0521573,Exact +GARD:0019605,ICD-10,Q10.3,NTBT +GARD:0019605,SNOMED-CT,95202004,NA +GARD:0019606,Orphanet,98948,Exact +GARD:0019606,ICD-10,Q11.2,NTBT +GARD:0019606,UMLS,C0152454,Exact +GARD:0019607,Orphanet,98950,Exact +GARD:0019607,ICD-10,Q11.2,NTBT +GARD:0019608,Orphanet,98951,Exact +GARD:0019608,ICD-10,Q07.8,NTBT +GARD:0019609,Orphanet,98958,Exact +GARD:0019609,ICD-10,H18.5,NTBT +GARD:0019609,SNOMED-CT,231944006,NA +GARD:0019610,Orphanet,98975,Exact +GARD:0019610,OMIM,121700,Exact +GARD:0019610,ICD-10,H18.5,NTBT +GARD:0019610,SNOMED-CT,416633008,NA +GARD:0019610,UMLS,C1562689,Exact +GARD:0019611,Orphanet,98981,Exact +GARD:0019611,ICD-10,H21.2,NTBT +GARD:0019611,SNOMED-CT,25913001,NA +GARD:0019612,Orphanet,99003,Exact +GARD:0019612,ICD-10,H35.5,NTBT +GARD:0019612,SNOMED-CT,723408004,NA +GARD:0019613,SNOMED-CT,770437002,NA +GARD:0019613,Orphanet,99004,Exact +GARD:0019613,ICD-10,H35.5,NTBT +GARD:0019614,Orphanet,99042,Exact +GARD:0019614,ICD-10,Q20.3,NTBT +GARD:0019615,Orphanet,99043,Exact +GARD:0019615,ICD-10,Q21.3,NTBT +GARD:0019615,ICD-10,Q20.1,NTBT +GARD:0019615,UMLS,C1956411,Exact +GARD:0019616,SNOMED-CT,448794008,NA +GARD:0019616,Orphanet,99045,Exact +GARD:0019616,ICD-10,Q20.1,NTBT +GARD:0019616,ICD-11,LA85.20,Exact +GARD:0019616,UMLS,C1956413,Exact +GARD:0019616,UMLS,C1956412,Exact +GARD:0019617,Orphanet,99046,Exact +GARD:0019617,ICD-11,LA85.21,Exact +GARD:0019617,ICD-10,Q20.1,NTBT +GARD:0019617,SNOMED-CT,253299006,NA +GARD:0019618,SNOMED-CT,784353002,NA +GARD:0019618,Orphanet,99048,Exact +GARD:0019618,ICD-10,Q22.2,NTBT +GARD:0019619,Orphanet,99049,Exact +GARD:0019619,ICD-10,Q25.7,NTBT +GARD:0019619,SNOMED-CT,448105006,NA +GARD:0019620,Orphanet,99052,Exact +GARD:0019620,ICD-10,Q24.4,NTBT +GARD:0019621,Orphanet,99053,Exact +GARD:0019621,ICD-10,Q24.4,NTBT +GARD:0019622,SNOMED-CT,56786000,NA +GARD:0019622,Orphanet,99054,Exact +GARD:0019622,UMLS,C0034089,Exact +GARD:0019622,ICD-10,Q22.1,NTBT +GARD:0019622,MedDRA,10037450,Exact +GARD:0019622,MeSH,D011666,Exact +GARD:0019623,Orphanet,99055,Exact +GARD:0019623,SNOMED-CT,447829000,NA +GARD:0019623,ICD-10,Q22.8,NTBT +GARD:0019624,Orphanet,99056,Exact +GARD:0019624,ICD-10,Q22.8,NTBT +GARD:0019624,SNOMED-CT,253391007,NA +GARD:0019625,SNOMED-CT,449270002,NA +GARD:0019625,Orphanet,99058,Exact +GARD:0019625,ICD-10,Q23.2,NTBT +GARD:0019625,UMLS,C3165203,Exact +GARD:0019626,Orphanet,99059,Exact +GARD:0019626,ICD-10,Q23.2,NTBT +GARD:0019627,SNOMED-CT,253401003,NA +GARD:0019627,Orphanet,99060,Exact +GARD:0019627,ICD-10,Q23.3,NTBT +GARD:0019628,Orphanet,99061,Exact +GARD:0019628,ICD-10,Q23.8,NTBT +GARD:0019629,Orphanet,99062,Exact +GARD:0019629,ICD-10,Q23.3,NTBT +GARD:0019629,SNOMED-CT,92969008,NA +GARD:0019630,Orphanet,99063,Exact +GARD:0019630,ICD-10,Q23.8,NTBT +GARD:0019630,MedDRA,10066802,Exact +GARD:0019630,UMLS,C1868705,Exact +GARD:0019630,SNOMED-CT,41371000119100,NA +GARD:0019631,Orphanet,99064,Exact +GARD:0019631,ICD-10,Q23.8,NTBT +GARD:0019632,SNOMED-CT,253650001,NA +GARD:0019632,Orphanet,99070,Exact +GARD:0019632,UMLS,C0345055,Exact +GARD:0019632,ICD-10,Q20.8,NTBT +GARD:0019633,Orphanet,99071,Exact +GARD:0019633,UMLS,C0345054,Exact +GARD:0019633,ICD-10,Q20.8,NTBT +GARD:0019633,SNOMED-CT,26201005,NA +GARD:0019634,SNOMED-CT,763316006,NA +GARD:0019634,Orphanet,99072,Exact +GARD:0019634,ICD-10,Q25.8,NTBT +GARD:0019635,SNOMED-CT,764521002,NA +GARD:0019635,Orphanet,99075,Exact +GARD:0019635,ICD-10,Q25.4,NTBT +GARD:0019636,Orphanet,99076,Exact +GARD:0019636,SNOMED-CT,253658008,NA +GARD:0019636,UMLS,C0345066,Exact +GARD:0019636,ICD-10,Q25.4,NTBT +GARD:0019637,Orphanet,99077,Exact +GARD:0019637,ICD-10,Q25.4,NTBT +GARD:0019637,UMLS,C0265885,Exact +GARD:0019637,SNOMED-CT,74561007,NA +GARD:0019638,Orphanet,99078,Exact +GARD:0019638,ICD-10,Q25.4,NTBT +GARD:0019638,SNOMED-CT,766751007,NA +GARD:0019639,Orphanet,99079,Exact +GARD:0019639,ICD-10,Q25.4,NTBT +GARD:0019639,UMLS,C0345065,Exact +GARD:0019639,UMLS,C0003490,Exact +GARD:0019639,SNOMED-CT,253657003,NA +GARD:0019640,Orphanet,99081,Exact +GARD:0019640,UMLS,C0035615,Exact +GARD:0019640,ICD-10,Q25.4,NTBT +GARD:0019640,MedDRA,10067407,Exact +GARD:0019640,SNOMED-CT,111321007,NA +GARD:0019641,Orphanet,99082,Exact +GARD:0019641,SNOMED-CT,231719009,NA +GARD:0019641,UMLS,C0267073,Exact +GARD:0019641,ICD-10,Q25.4,NTBT +GARD:0019642,Orphanet,99083,Exact +GARD:0019642,ICD-10,Q25.7,NTBT +GARD:0019642,SNOMED-CT,54682008,NA +GARD:0019643,Orphanet,99087,Exact +GARD:0019643,ICD-10,Q24.5,NTBT +GARD:0019644,Orphanet,99089,Exact +GARD:0019644,SNOMED-CT,783773000,NA +GARD:0019644,ICD-10,Q24.5,NTBT +GARD:0019645,Orphanet,99090,Exact +GARD:0019645,ICD-10,Q24.5,NTBT +GARD:0019645,SNOMED-CT,461331004,NA +GARD:0019646,Orphanet,99094,Exact +GARD:0019646,SNOMED-CT,764955006,NA +GARD:0019646,ICD-10,Q21.0,NTBT +GARD:0019647,Orphanet,99095,Exact +GARD:0019647,ICD-10,Q21.0,NTBT +GARD:0019647,SNOMED-CT,204312002,NA +GARD:0019648,Orphanet,99100,Exact +GARD:0019648,ICD-10,Q20.8,NTBT +GARD:0019648,SNOMED-CT,128563000,NA +GARD:0019649,Orphanet,99101,Exact +GARD:0019649,ICD-10,Q20.8,NTBT +GARD:0019649,SNOMED-CT,770433003,NA +GARD:0019650,Orphanet,99102,Exact +GARD:0019650,ICD-10,Q20.8,NTBT +GARD:0019650,SNOMED-CT,770432008,NA +GARD:0019651,SNOMED-CT,95440004,NA +GARD:0019651,Orphanet,99107,Exact +GARD:0019651,UMLS,C0521533,Exact +GARD:0019651,ICD-10,Q21.1,NTBT +GARD:0019652,Orphanet,99109,Exact +GARD:0019652,ICD-10,Q26.1,NTBT +GARD:0019653,Orphanet,99110,Exact +GARD:0019653,SNOMED-CT,253310007,NA +GARD:0019653,ICD-10,Q26.8,NTBT +GARD:0019654,Orphanet,99111,Exact +GARD:0019654,ICD-10,Q26.1,NTBT +GARD:0019655,Orphanet,99112,Exact +GARD:0019655,ICD-10,Q26.8,NTBT +GARD:0019655,SNOMED-CT,765812004,NA +GARD:0019656,Orphanet,99113,Exact +GARD:0019656,ICD-10,Q26.8,NTBT +GARD:0019656,SNOMED-CT,766756002,NA +GARD:0019657,Orphanet,99114,Exact +GARD:0019657,ICD-10,Q26.8,NTBT +GARD:0019657,SNOMED-CT,26865008,NA +GARD:0019658,Orphanet,99117,Exact +GARD:0019658,ICD-10,Q21.1,NTBT +GARD:0019658,SNOMED-CT,253327004,NA +GARD:0019659,SNOMED-CT,253326008,NA +GARD:0019659,Orphanet,99118,Exact +GARD:0019659,ICD-10,Q21.1,NTBT +GARD:0019660,SNOMED-CT,448631009,NA +GARD:0019660,Orphanet,99119,Exact +GARD:0019660,ICD-10,Q26.8,NTBT +GARD:0019661,SNOMED-CT,783011004,NA +GARD:0019661,Orphanet,99120,Exact +GARD:0019661,ICD-10,Q26.8,NTBT +GARD:0019662,Orphanet,99121,Exact +GARD:0019662,ICD-10,Q26.8,NTBT +GARD:0019663,SNOMED-CT,62335009,NA +GARD:0019663,Orphanet,99122,Exact +GARD:0019663,UMLS,C0265934,Exact +GARD:0019663,UMLS,C0340757,Exact +GARD:0019663,ICD-10,Q26.0,NTBT +GARD:0019664,Orphanet,99123,Exact +GARD:0019664,ICD-10,Q26.8,NTBT +GARD:0019665,Orphanet,99124,Exact +GARD:0019665,ICD-10,Q26.3,Exact +GARD:0019665,UMLS,C0158634,Exact +GARD:0019665,ICD-11,LA86.21,Exact +GARD:0019665,SNOMED-CT,68237008,NA +GARD:0019666,SNOMED-CT,253732001,NA +GARD:0019666,Orphanet,99129,Exact +GARD:0019666,ICD-10,Q24.8,NTBT +GARD:0019667,Orphanet,99130,Exact +GARD:0019667,ICD-10,Q24.8,NTBT +GARD:0019667,SNOMED-CT,253731008,NA +GARD:0019668,SNOMED-CT,253733006,NA +GARD:0019668,Orphanet,99131,Exact +GARD:0019668,ICD-10,Q24.8,NTBT +GARD:0019669,Orphanet,99138,Exact +GARD:0019669,ICD-11,3A10.1,Exact +GARD:0019669,ICD-10,D55.3,NTBT +GARD:0019669,SNOMED-CT,5315003,NA +GARD:0019670,SNOMED-CT,18273004,NA +GARD:0019670,Orphanet,99139,Exact +GARD:0019670,UMLS,C0272006,Exact +GARD:0019670,ICD-10,D58.2,NTBT +GARD:0019671,Orphanet,99169,Exact +GARD:0019671,UMLS,C0344503,Exact +GARD:0019671,ICD-10,Q10.3,NTBT +GARD:0019671,SNOMED-CT,253212001,NA +GARD:0019672,Orphanet,99170,Exact +GARD:0019673,SNOMED-CT,26590002,NA +GARD:0019673,Orphanet,99171,Exact +GARD:0019673,ICD-10,Q10.1,Exact +GARD:0019673,ICD-11,LA14.03,Exact +GARD:0019674,SNOMED-CT,400954002,NA +GARD:0019674,Orphanet,99172,Exact +GARD:0019674,ICD-10,Q10.1,NTBT +GARD:0019675,SNOMED-CT,715769008,NA +GARD:0019675,Orphanet,99176,Exact +GARD:0019675,ICD-10,Q10.3,NTBT +GARD:0019676,Orphanet,99226,Exact +GARD:0019676,UMLS,C0242526,Exact +GARD:0019676,ICD-10,Q96.9,NTBT +GARD:0019676,ICD-11,LD50.00,Exact +GARD:0019676,UMLS,C0041408,Exact +GARD:0019677,Orphanet,99228,Exact +GARD:0019677,ICD-10,Q96.4,BTNT +GARD:0019677,ICD-10,Q96.3,BTNT +GARD:0019678,SNOMED-CT,770668007,NA +GARD:0019678,Orphanet,99324,Exact +GARD:0019678,ICD-10,Q99.8,NTBT +GARD:0019679,Orphanet,99330,Exact +GARD:0019679,ICD-10,Q98.8,NTBT +GARD:0019679,SNOMED-CT,734028007,NA +GARD:0019680,Orphanet,99408,Exact +GARD:0019680,UMLS,C0032000,Exact +GARD:0019680,ICD-10,D35.2,NTBT +GARD:0019680,MedDRA,10035079,Exact +GARD:0019680,SNOMED-CT,254956000,NA +GARD:0019681,Orphanet,99413,Exact +GARD:0019681,ICD-10,Q96.1,BTNT +GARD:0019681,ICD-10,Q96.2,BTNT +GARD:0019682,Orphanet,99647,Exact +GARD:0019682,ICD-10,Q78.8,NTBT +GARD:0019682,SNOMED-CT,725104005,NA +GARD:0019683,SNOMED-CT,782916003,NA +GARD:0019683,Orphanet,99688,Exact +GARD:0019684,Orphanet,99701,Exact +GARD:0019684,ICD-10,G40.0,NTBT +GARD:0019684,SNOMED-CT,770643005,NA +GARD:0019685,Orphanet,99704,Exact +GARD:0019686,Orphanet,99739,Exact +GARD:0019686,UMLS,C0949658,Exact +GARD:0019686,MeSH,D024741,Exact +GARD:0019687,SNOMED-CT,18910001,NA +GARD:0019687,Orphanet,99771,Exact +GARD:0019687,UMLS,C0266122,Exact +GARD:0019687,ICD-10,Q35.7,Exact +GARD:0019687,ICD-11,LA42.2,Exact +GARD:0019688,Orphanet,99824,Exact +GARD:0019688,UMLS,C0023092,Exact +GARD:0019688,ICD-10,A96.2,Exact +GARD:0019688,MeSH,D007835,Exact +GARD:0019688,ICD-11,1D61.2,Exact +GARD:0019688,MedDRA,10023927,Exact +GARD:0019688,SNOMED-CT,19065005,NA +GARD:0019689,SNOMED-CT,406597005,NA +GARD:0019689,Orphanet,99825,Exact +GARD:0019689,ICD-10,A98.8,NTBT +GARD:0019690,SNOMED-CT,43489008,NA +GARD:0019690,Orphanet,99827,Exact +GARD:0019690,ICD-11,1D49,Exact +GARD:0019690,ICD-10,A98.0,Exact +GARD:0019690,UMLS,C0019099,Exact +GARD:0019691,Orphanet,99856,Exact +GARD:0019691,UMLS,C0039144,Exact +GARD:0019691,ICD-11,8D66.0,Exact +GARD:0019691,ICD-10,Q06.4,NTBT +GARD:0019691,UMLS,C1861301,Exact +GARD:0019691,SNOMED-CT,371076006,NA +GARD:0019692,SNOMED-CT,770683002,NA +GARD:0019692,Orphanet,99857,Exact +GARD:0019692,ICD-11,8D66.1,Exact +GARD:0019692,ICD-10,G95.0,NTBT +GARD:0019693,Orphanet,99858,Exact +GARD:0019693,ICD-10,G95.0,NTBT +GARD:0019694,Orphanet,99861,Exact +GARD:0019694,UMLS,C1961099,Exact +GARD:0019694,SNOMED-CT,277575008,NA +GARD:0019694,ICD-11,2A71,Exact +GARD:0019694,ICD-10,C91.0,NTBT +GARD:0019695,SNOMED-CT,444596001,NA +GARD:0019695,Orphanet,99868,Exact +GARD:0019695,UMLS,C0205969,Exact +GARD:0019695,ICD-10,C37,NTBT +GARD:0019695,MedDRA,10061031,Exact +GARD:0019695,ICD-11,2C27.0,Exact +GARD:0019695,UMLS,C1322286,Exact +GARD:0019696,Orphanet,99869,Exact +GARD:0019696,ICD-10,C37,NTBT +GARD:0019696,ICD-11,2C27.1,Exact +GARD:0019696,SNOMED-CT,716653001,NA +GARD:0019697,Orphanet,99887,Exact +GARD:0019697,ICD-10,C94.2,NTBT +GARD:0019697,SNOMED-CT,724644005,NA +GARD:0019697,ICD-11,2A60.41,NTBT +GARD:0019698,Orphanet,99889,Exact +GARD:0019698,ICD-11,5A70.1,Exact +GARD:0019698,ICD-10,E24.3,NTBT +GARD:0019698,SNOMED-CT,626004,NA +GARD:0019699,SNOMED-CT,237734007,NA +GARD:0019699,Orphanet,99892,Exact +GARD:0019699,ICD-10,E24.0,NTBT +GARD:0019699,UMLS,C0342442,Exact +GARD:0019700,Orphanet,99893,Exact +GARD:0019700,ICD-10,E24.8,NTBT +GARD:0019701,Orphanet,99903,Exact +GARD:0019701,ICD-11,1B90.0,Exact +GARD:0019701,UMLS,C0152062,Exact +GARD:0019701,ICD-10,A25.0,Exact +GARD:0019701,SNOMED-CT,19044004,NA +GARD:0019702,Orphanet,99905,Exact +GARD:0019702,SNOMED-CT,52138004,NA +GARD:0019702,ICD-11,1B90.1,Exact +GARD:0019702,ICD-10,A25.1,Exact +GARD:0019703,SNOMED-CT,725415009,NA +GARD:0019703,Orphanet,99907,Exact +GARD:0019703,ICD-10,J67.8,NTBT +GARD:0019704,Orphanet,99909,Exact +GARD:0019705,Orphanet,99912,Exact +GARD:0019705,ICD-10,C56,NTBT +GARD:0019705,ICD-11,2C73.1,Exact +GARD:0019705,SNOMED-CT,254874008,NA +GARD:0019706,Orphanet,99913,Exact +GARD:0019707,Orphanet,99915,Exact +GARD:0019707,UMLS,C0334401,Exact +GARD:0019707,ICD-11,2C73.2,Exact +GARD:0019707,UMLS,C1567257,Exact +GARD:0019707,MeSH,D006106,Exact +GARD:0019707,ICD-10,C56,NTBT +GARD:0019707,SNOMED-CT,254863004,NA +GARD:0019708,SNOMED-CT,716855006,NA +GARD:0019708,Orphanet,99917,Exact +GARD:0019708,ICD-10,C56,NTBT +GARD:0019709,SNOMED-CT,240451000,NA +GARD:0019709,Orphanet,99918,Exact +GARD:0019709,UMLS,C0343532,Exact +GARD:0019709,ICD-11,1C45.0,Exact +GARD:0019709,MedDRA,10044251,Exact +GARD:0019709,ICD-10,A48.3,NTBT +GARD:0019710,Orphanet,99919,Exact +GARD:0019710,MedDRA,10044250,Exact +GARD:0019710,UMLS,C3714602,Exact +GARD:0019710,ICD-11,1C45.1,Exact +GARD:0019710,ICD-10,A48.3,NTBT +GARD:0019710,SNOMED-CT,240450004,NA +GARD:0019711,Orphanet,99925,Exact +GARD:0019711,ICD-10,D39.2,NTBT +GARD:0019711,SNOMED-CT,416669000,NA +GARD:0019711,UMLS,C0008493,Exact +GARD:0019712,Orphanet,99926,Exact +GARD:0019712,ICD-10,C58,NTBT +GARD:0019712,SNOMED-CT,417570003,NA +GARD:0019712,UMLS,C0349557,Exact +GARD:0019713,Orphanet,99930,Exact +GARD:0019713,ICD-11,CB05.5,Exact +GARD:0019713,ICD-10,E83.1+,NTBT +GARD:0019713,ICD-10,J99.8*,NTBT +GARD:0019713,SNOMED-CT,716712004,NA +GARD:0019714,Orphanet,99932,Exact +GARD:0019714,ICD-10,E83.1+,NTBT +GARD:0019714,ICD-10,J99.8*,NTBT +GARD:0019715,Orphanet,99933,Exact +GARD:0019715,ICD-10,C34.3,ND (not yet decided/unable to decide) +GARD:0019715,ICD-10,C34.2,ND (not yet decided/unable to decide) +GARD:0019715,ICD-10,C34.9,ND (not yet decided/unable to decide) +GARD:0019715,ICD-10,C34.8,ND (not yet decided/unable to decide) +GARD:0019715,ICD-10,C34.1,ND (not yet decided/unable to decide) +GARD:0019716,Orphanet,99934,Exact +GARD:0019716,ICD-10,C34.2,ND (not yet decided/unable to decide) +GARD:0019716,ICD-10,C34.3,ND (not yet decided/unable to decide) +GARD:0019716,ICD-10,C34.1,ND (not yet decided/unable to decide) +GARD:0019716,ICD-10,C34.9,ND (not yet decided/unable to decide) +GARD:0019716,ICD-10,C34.8,ND (not yet decided/unable to decide) +GARD:0019717,Orphanet,99935,Exact +GARD:0019717,ICD-10,C34.9,ND (not yet decided/unable to decide) +GARD:0019717,ICD-10,C34.2,ND (not yet decided/unable to decide) +GARD:0019717,ICD-10,C34.3,ND (not yet decided/unable to decide) +GARD:0019717,ICD-10,C34.8,ND (not yet decided/unable to decide) +GARD:0019717,ICD-10,C34.1,ND (not yet decided/unable to decide) +GARD:0019718,Orphanet,99965,Exact +GARD:0019718,MedDRA,10069682,Exact +GARD:0019718,UMLS,C2721741,Exact +GARD:0019718,ICD-10,G12.8,NTBT +GARD:0019719,Orphanet,99969,Exact +GARD:0019719,ICD-10,C49.9,NTBT +GARD:0019719,UMLS,C0205825,Exact +GARD:0019719,SNOMED-CT,404071006,NA +GARD:0019720,SNOMED-CT,404072004,NA +GARD:0019720,Orphanet,99970,Exact +GARD:0019720,UMLS,C0205824,Exact +GARD:0019720,ICD-10,C49.9,NTBT +GARD:0019721,SNOMED-CT,404067008,NA +GARD:0019721,Orphanet,99971,Exact +GARD:0019721,UMLS,C1370889,Exact +GARD:0019721,ICD-10,C49.9,NTBT +GARD:0019722,Orphanet,99981,Exact +GARD:0019722,UMLS,C0475715,Exact +GARD:0019722,ICD-10,P28.4,NTBT +GARD:0019722,SNOMED-CT,276544005,NA +GARD:0019723,Orphanet,99983,Exact +GARD:0019723,UMLS,C0027031,Exact +GARD:0019723,ICD-10,B87.0,NTBT +GARD:0019723,ICD-11,1G01.3,Exact +GARD:0019723,SNOMED-CT,240877000,NA +GARD:0019724,Orphanet,99989,Exact +GARD:0019724,ICD-10,P70.2,NTBT +GARD:0019725,Orphanet,99990,Exact +GARD:0019725,ICD-10,A75.1,Exact +GARD:0019725,ICD-11,1C30.1,Exact +GARD:0019725,UMLS,C0006181,Exact +GARD:0019725,SNOMED-CT,47761007,NA +GARD:0019726,Orphanet,99991,Exact +GARD:0019726,ICD-11,1C30.1,Exact +GARD:0019726,ICD-10,A75.0,NTBT +GARD:0019727,Orphanet,99994,Exact +GARD:0019727,UMLS,C0007462,Exact +GARD:0019727,MedDRA,10064335,Exact +GARD:0019727,ICD-10,G90.6,Exact +GARD:0019727,SNOMED-CT,408751001,NA +GARD:0019728,Orphanet,100000,Exact +GARD:0019728,ICD-10,D36.1,BTNT +GARD:0019729,Orphanet,100001,Exact +GARD:0019729,ICD-10,D36.1,BTNT +GARD:0019730,SNOMED-CT,768926005,NA +GARD:0019730,Orphanet,100002,Exact +GARD:0019730,ICD-10,D36.1,BTNT +GARD:0019731,SNOMED-CT,785307003,NA +GARD:0019731,Orphanet,100011,Exact +GARD:0019731,ICD-10,Q04.3,NTBT +GARD:0019732,SNOMED-CT,715819005,NA +GARD:0019732,Orphanet,100012,Exact +GARD:0019732,ICD-10,Q04.3,NTBT +GARD:0019733,SNOMED-CT,715820004,NA +GARD:0019733,Orphanet,100013,Exact +GARD:0019733,ICD-10,Q04.3,NTBT +GARD:0019734,SNOMED-CT,715821000,NA +GARD:0019734,Orphanet,100014,Exact +GARD:0019734,ICD-10,Q04.3,NTBT +GARD:0019735,Orphanet,100015,Exact +GARD:0019735,ICD-10,Q04.3,NTBT +GARD:0019735,SNOMED-CT,785306007,NA +GARD:0019736,Orphanet,100016,Exact +GARD:0019736,ICD-10,Q04.3,NTBT +GARD:0019736,SNOMED-CT,715822007,NA +GARD:0019737,SNOMED-CT,415283002,NA +GARD:0019737,Orphanet,100019,Exact +GARD:0019737,ICD-10,D46.2,NTBT +GARD:0019737,UMLS,C1318550,Exact +GARD:0019738,SNOMED-CT,415284008,NA +GARD:0019738,Orphanet,100020,Exact +GARD:0019738,ICD-10,D46.2,NTBT +GARD:0019738,UMLS,C1318551,Exact +GARD:0019739,Orphanet,100021,Exact +GARD:0019739,ICD-10,C90.3,Exact +GARD:0019739,ICD-11,2A83.2,NTBT +GARD:0019739,SNOMED-CT,426336007,NA +GARD:0019740,Orphanet,100022,Exact +GARD:0019740,ICD-11,2A83.2,NTBT +GARD:0019740,ICD-10,C90.2,NTBT +GARD:0019741,Orphanet,100024,Exact +GARD:0019741,ICD-11,2A84.2,Exact +GARD:0019741,ICD-10,C88.2,NTBT +GARD:0019741,UMLS,C0242310,Exact +GARD:0019741,SNOMED-CT,61493004,NA +GARD:0019742,SNOMED-CT,109982002,NA +GARD:0019742,Orphanet,100025,Exact +GARD:0019742,ICD-10,C88.3,NTBT +GARD:0019742,ICD-11,2A84.0,Exact +GARD:0019742,UMLS,C0021071,Exact +GARD:0019743,SNOMED-CT,447058001,NA +GARD:0019743,Orphanet,100035,Exact +GARD:0019743,ICD-10,D13.4,NTBT +GARD:0019744,SNOMED-CT,721161005,NA +GARD:0019744,Orphanet,100047,Exact +GARD:0019744,ICD-10,Q39.8,NTBT +GARD:0019745,Orphanet,100048,Exact +GARD:0019745,ICD-10,Q39.8,NTBT +GARD:0019745,SNOMED-CT,716280004,NA +GARD:0019746,Orphanet,100049,Exact +GARD:0019747,Orphanet,100055,Exact +GARD:0019747,ICD-10,T78.3,NTBT +GARD:0019748,Orphanet,100056,Exact +GARD:0019748,ICD-10,T78.3,NTBT +GARD:0019749,Orphanet,100073,Exact +GARD:0019749,ICD-10,G54.0,NTBT +GARD:0019749,UMLS,C0751549,Exact +GARD:0019749,SNOMED-CT,2040007,NA +GARD:0019750,SNOMED-CT,721194008,NA +GARD:0019750,Orphanet,100075,Exact +GARD:0019750,ICD-10,C16.9,NTBT +GARD:0019751,Orphanet,100076,Exact +GARD:0019752,Orphanet,100077,Exact +GARD:0019752,SNOMED-CT,737312002,NA +GARD:0019753,SNOMED-CT,737313007,NA +GARD:0019753,Orphanet,100078,Exact +GARD:0019753,ICD-10,C17.2,NTBT +GARD:0019754,Orphanet,100079,Exact +GARD:0019754,ICD-10,D37.3,NTBT +GARD:0019754,ICD-11,2B81.2,Exact +GARD:0019754,ICD-10,C18.1,NTBT +GARD:0019754,SNOMED-CT,725167001,NA +GARD:0019755,Orphanet,100080,Exact +GARD:0019755,ICD-10,C18.8,NTBT +GARD:0019755,SNOMED-CT,721698005,NA +GARD:0019756,Orphanet,100081,Exact +GARD:0019756,ICD-10,C20,NTBT +GARD:0019756,SNOMED-CT,721700001,NA +GARD:0019757,Orphanet,100082,Exact +GARD:0019757,ICD-10,C21.1,NTBT +GARD:0019757,ICD-11,2C00.2,Exact +GARD:0019757,SNOMED-CT,733163007,NA +GARD:0019758,Orphanet,100083,Exact +GARD:0019758,ICD-10,D14.1,NTBT +GARD:0019758,ICD-10,C32.1,NTBT +GARD:0019758,ICD-11,2F00.2,Exact +GARD:0019759,SNOMED-CT,717918002,NA +GARD:0019759,Orphanet,100084,Exact +GARD:0019759,ICD-10,C30.1,NTBT +GARD:0019759,ICD-11,2F00.0,Exact +GARD:0019760,SNOMED-CT,716652006,NA +GARD:0019760,Orphanet,100085,Exact +GARD:0019760,ICD-10,C22.7,NTBT +GARD:0019761,Orphanet,100086,Exact +GARD:0019761,ICD-10,C23,NTBT +GARD:0019761,SNOMED-CT,785824001,NA +GARD:0019762,Orphanet,100087,Exact +GARD:0019762,UMLS,C0040136,Exact +GARD:0019763,SNOMED-CT,448216007,NA +GARD:0019763,Orphanet,100088,Exact +GARD:0019763,UMLS,C0549473,Exact +GARD:0019763,MedDRA,10007476,Exact +GARD:0019764,Orphanet,100090,Exact +GARD:0019764,UMLS,C0030521,Exact +GARD:0019764,ICD-10,C75.0,BTNT +GARD:0019764,ICD-10,D44.2,BTNT +GARD:0019764,ICD-10,D35.1,BTNT +GARD:0019765,Orphanet,100091,Exact +GARD:0019766,Orphanet,100094,Exact +GARD:0019766,ICD-11,2F7A.0,Exact +GARD:0019766,ICD-10,D44.8,Exact +GARD:0019766,UMLS,C0027662,Exact +GARD:0019767,Orphanet,100100,Exact +GARD:0019767,UMLS,C3714644,Exact +GARD:0019768,Orphanet,100101,Exact +GARD:0019769,SNOMED-CT,716708005,NA +GARD:0019769,Orphanet,100974,Exact +GARD:0019770,Orphanet,100979,Exact +GARD:0019770,ICD-10,G11.4,NTBT +GARD:0019771,Orphanet,100980,Exact +GARD:0019771,ICD-10,G11.4,NTBT +GARD:0019772,Orphanet,100981,Exact +GARD:0019772,ICD-10,G11.4,NTBT +GARD:0019773,Orphanet,100982,Exact +GARD:0019773,ICD-10,G11.4,NTBT +GARD:0019774,Orphanet,101023,Exact +GARD:0019774,ICD-10,Q35.1,Exact +GARD:0019774,ICD-11,LA42.0,Exact +GARD:0019774,SNOMED-CT,448915004,NA +GARD:0019775,Orphanet,101029,Exact +GARD:0019775,ICD-10,Q04.8,NTBT +GARD:0019776,Orphanet,101043,Exact +GARD:0019776,UMLS,C0344993,Exact +GARD:0019776,ICD-10,Q23.0,NTBT +GARD:0019776,SNOMED-CT,871597006,NA +GARD:0019777,Orphanet,101071,Exact +GARD:0019777,ICD-10,Q04.3,NTBT +GARD:0019778,Orphanet,101096,Exact +GARD:0019778,UMLS,C0002893,Exact +GARD:0019778,MedDRA,10054329,Exact +GARD:0019778,ICD-10,D46.7,NTBT +GARD:0019778,UMLS,C0553669,Exact +GARD:0019779,Orphanet,101104,Exact +GARD:0019779,ICD-10,Q07.8,NTBT +GARD:0019780,Orphanet,101206,Exact +GARD:0019780,ICD-10,Q22.2,NTBT +GARD:0019780,SNOMED-CT,766976003,NA +GARD:0019781,Orphanet,101334,Exact +GARD:0019781,ICD-10,A77.1,NTBT +GARD:0019782,Orphanet,101435,Exact +GARD:0019783,SNOMED-CT,773772001,NA +GARD:0019783,Orphanet,101685,Exact +GARD:0019783,ICD-10,F70,BTNT +GARD:0019783,ICD-10,F73,BTNT +GARD:0019783,ICD-10,F71,BTNT +GARD:0019783,ICD-10,F72,BTNT +GARD:0019784,Orphanet,101932,Exact +GARD:0019784,ICD-11,LA87.13,Exact +GARD:0019784,ICD-10,Q23.8,NTBT +GARD:0019784,SNOMED-CT,448920004,NA +GARD:0019785,Orphanet,101934,Exact +GARD:0019786,Orphanet,101936,Exact +GARD:0019787,Orphanet,101937,Exact +GARD:0019787,UMLS,C0030286,Exact +GARD:0019788,Orphanet,101938,Exact +GARD:0019788,UMLS,C0400923,Exact +GARD:0019789,Orphanet,101939,Exact +GARD:0019790,Orphanet,101940,Exact +GARD:0019790,MedDRA,10019689,Exact +GARD:0019790,UMLS,C0851734,Exact +GARD:0019791,Orphanet,101941,Exact +GARD:0019791,UMLS,C0750952,Exact +GARD:0019791,UMLS,C0005424,Exact +GARD:0019792,Orphanet,101943,Exact +GARD:0019793,Orphanet,101944,Exact +GARD:0019793,UMLS,C0024115,Exact +GARD:0019794,Orphanet,101945,Exact +GARD:0019795,Orphanet,101950,Exact +GARD:0019795,UMLS,C0015414,Exact +GARD:0019796,Orphanet,101952,Exact +GARD:0019796,UMLS,C0011849,Exact +GARD:0019796,UMLS,C0011860,Exact +GARD:0019797,Orphanet,101953,Exact +GARD:0019797,UMLS,C0242339,Exact +GARD:0019798,Orphanet,101954,Exact +GARD:0019798,UMLS,C0001621,Exact +GARD:0019799,Orphanet,101955,Exact +GARD:0019799,UMLS,C0040128,Exact +GARD:0019800,Orphanet,101956,Exact +GARD:0019800,ICD-10,E31.8,BTNT +GARD:0019800,ICD-10,E31.0,BTNT +GARD:0019800,ICD-10,E31.9,BTNT +GARD:0019800,ICD-10,E31.1,BTNT +GARD:0019801,Orphanet,101957,Exact +GARD:0019801,UMLS,C0020635,Exact +GARD:0019801,ICD-10,E23.0,Exact +GARD:0019802,Orphanet,101958,Exact +GARD:0019802,MedDRA,10052381,Exact +GARD:0019803,Orphanet,101959,Exact +GARD:0019803,UMLS,C0001403,Exact +GARD:0019804,Orphanet,101960,Exact +GARD:0019805,Orphanet,101963,Exact +GARD:0019806,Orphanet,101972,Exact +GARD:0019806,ICD-10,D81.3,BTNT +GARD:0019806,ICD-10,D81.6,BTNT +GARD:0019806,ICD-10,D81.1,BTNT +GARD:0019806,ICD-10,D81.0,BTNT +GARD:0019806,ICD-10,D81.7,BTNT +GARD:0019806,ICD-10,D81.2,BTNT +GARD:0019806,ICD-10,D81.9,BTNT +GARD:0019806,ICD-10,D81.4,BTNT +GARD:0019806,ICD-10,D81.8,BTNT +GARD:0019806,ICD-10,D81.5,BTNT +GARD:0019807,Orphanet,101977,Exact +GARD:0019807,ICD-10,D80.2,BTNT +GARD:0019807,ICD-10,D80.1,BTNT +GARD:0019807,ICD-10,D80.7,BTNT +GARD:0019807,ICD-10,D80.8,BTNT +GARD:0019807,ICD-10,D80.5,BTNT +GARD:0019807,ICD-10,D80.9,BTNT +GARD:0019807,ICD-10,D80.3,BTNT +GARD:0019807,ICD-10,D80.4,BTNT +GARD:0019807,ICD-10,D80.0,BTNT +GARD:0019807,ICD-10,D80.6,BTNT +GARD:0019808,Orphanet,101985,Exact +GARD:0019809,Orphanet,101987,Exact +GARD:0019809,ICD-11,4B00.00,Exact +GARD:0019809,ICD-10,D70,NTBT +GARD:0019810,Orphanet,101988,Exact +GARD:0019811,Orphanet,101992,Exact +GARD:0019811,ICD-10,D84.1,Exact +GARD:0019812,Orphanet,101995,Exact +GARD:0019812,UMLS,C0015974,Exact +GARD:0019812,ICD-10,E85.0,NTBT +GARD:0019812,MedDRA,10034533,Exact +GARD:0019813,Orphanet,101997,Exact +GARD:0019813,MedDRA,10064859,Exact +GARD:0019813,UMLS,C0398686,Exact +GARD:0019814,Orphanet,101998,Exact +GARD:0019814,ICD-10,G40.9,NTBT +GARD:0019814,ICD-10,G40.1,NTBT +GARD:0019814,ICD-10,G40.5,NTBT +GARD:0019814,ICD-10,G40.3,NTBT +GARD:0019814,ICD-10,G40.6,NTBT +GARD:0019814,ICD-10,G40.7,NTBT +GARD:0019814,ICD-10,G40.8,NTBT +GARD:0019814,ICD-10,G40.0,NTBT +GARD:0019814,ICD-10,G40.2,NTBT +GARD:0019814,ICD-10,G40.4,NTBT +GARD:0019815,Orphanet,102000,Exact +GARD:0019816,Orphanet,102002,Exact +GARD:0019817,Orphanet,102003,Exact +GARD:0019817,UMLS,C0026650,Exact +GARD:0019818,Orphanet,102005,Exact +GARD:0019819,Orphanet,102006,Exact +GARD:0019820,Orphanet,102010,Exact +GARD:0019820,ICD-10,Q04.3,NTBT +GARD:0019821,Orphanet,102011,Exact +GARD:0019821,ICD-10,Q04.3,NTBT +GARD:0019821,UMLS,C1969029,Exact +GARD:0019822,Orphanet,102012,Exact +GARD:0019822,ICD-10,G11.4,NTBT +GARD:0019822,UMLS,C0393555,Exact +GARD:0019822,SNOMED-CT,230260007,NA +GARD:0019823,SNOMED-CT,230261006,NA +GARD:0019823,Orphanet,102013,Exact +GARD:0019823,ICD-10,G11.4,NTBT +GARD:0019824,Orphanet,102014,Exact +GARD:0019824,ICD-10,G71.0,NTBT +GARD:0019824,ICD-11,8C70.40,Exact +GARD:0019825,Orphanet,102015,Exact +GARD:0019825,ICD-11,8C70.41,Exact +GARD:0019825,UMLS,C2931907,Exact +GARD:0019825,ICD-10,G71.0,NTBT +GARD:0019826,Orphanet,102020,Exact +GARD:0019826,ICD-10,Q93.6,BTNT +GARD:0019826,ICD-10,Q93.4,BTNT +GARD:0019826,ICD-10,Q93.5,BTNT +GARD:0019826,ICD-10,Q93.7,BTNT +GARD:0019826,ICD-10,Q93.8,BTNT +GARD:0019826,ICD-10,Q93.3,BTNT +GARD:0019826,ICD-10,Q93.9,BTNT +GARD:0019826,ICD-10,Q93.1,BTNT +GARD:0019826,ICD-10,Q93.2,BTNT +GARD:0019826,ICD-10,Q93.0,BTNT +GARD:0019826,UMLS,C0026499,Exact +GARD:0019827,Orphanet,102021,Exact +GARD:0019827,UMLS,C0035585,Exact +GARD:0019828,Orphanet,102022,Exact +GARD:0019828,ICD-10,A77.3,BTNT +GARD:0019828,ICD-10,A77.8,BTNT +GARD:0019828,ICD-10,A77.9,BTNT +GARD:0019828,ICD-10,A77.2,BTNT +GARD:0019828,ICD-10,A77.0,BTNT +GARD:0019828,ICD-10,A77.1,BTNT +GARD:0019829,Orphanet,102023,Exact +GARD:0019829,ICD-10,A75.2,BTNT +GARD:0019829,ICD-10,A75.1,BTNT +GARD:0019829,ICD-10,A75.0,BTNT +GARD:0019829,ICD-10,A75.3,BTNT +GARD:0019829,UMLS,C0343758,Exact +GARD:0019829,ICD-10,A75.9,BTNT +GARD:0019829,SNOMED-CT,240613006,NA +GARD:0019830,Orphanet,102024,Exact +GARD:0019831,Orphanet,102237,Exact +GARD:0019831,ICD-10,E85.0,NTBT +GARD:0019832,Orphanet,102283,Exact +GARD:0019833,Orphanet,102285,Exact +GARD:0019834,Orphanet,102369,Exact +GARD:0019835,Orphanet,102379,Exact +GARD:0019835,SNOMED-CT,766045006,NA +GARD:0019835,ICD-10,C92.8,NTBT +GARD:0019836,Orphanet,102381,Exact +GARD:0019836,ICD-10,C92.0,NTBT +GARD:0019836,SNOMED-CT,766046007,NA +GARD:0019837,Orphanet,102724,Exact +GARD:0019837,ICD-10,C92.0,NTBT +GARD:0019838,Orphanet,103907,Exact +GARD:0019838,ICD-10,E74.3,NTBT +GARD:0019838,ICD-11,5C61.1,Exact +GARD:0019838,SNOMED-CT,716277000,NA +GARD:0019839,SNOMED-CT,725591002,NA +GARD:0019839,Orphanet,103910,Exact +GARD:0019839,ICD-10,P78.3,NTBT +GARD:0019840,Orphanet,103920,Exact +GARD:0019840,ICD-11,DD72,Exact +GARD:0019840,ICD-10,K52.3,Exact +GARD:0019841,Orphanet,104003,Exact +GARD:0019842,Orphanet,104004,Exact +GARD:0019843,Orphanet,104005,Exact +GARD:0019844,Orphanet,104006,Exact +GARD:0019845,Orphanet,104007,Exact +GARD:0019846,Orphanet,104009,Exact +GARD:0019847,SNOMED-CT,254589009,NA +GARD:0019847,Orphanet,104010,Exact +GARD:0019847,MeSH,D044483,Exact +GARD:0019847,UMLS,C0345891,Exact +GARD:0019847,UMLS,C1257915,Exact +GARD:0019847,MedDRA,10057018,Exact +GARD:0019848,Orphanet,104011,Exact +GARD:0019848,UMLS,C0021841,Exact +GARD:0019849,Orphanet,104012,Exact +GARD:0019849,UMLS,C0021390,Exact +GARD:0019850,Orphanet,104013,Exact +GARD:0019851,Orphanet,104075,Exact +GARD:0019851,ICD-10,D01.4,NTBT +GARD:0019851,UMLS,C0278803,Exact +GARD:0019851,SNOMED-CT,424440001,NA +GARD:0019852,SNOMED-CT,716651004,NA +GARD:0019852,Orphanet,104076,Exact +GARD:0019852,UMLS,C0920305,Exact +GARD:0019852,ICD-10,C17.8,BTNT +GARD:0019852,ICD-10,C17.2,BTNT +GARD:0019852,ICD-10,C17.1,BTNT +GARD:0019852,ICD-10,C17.0,BTNT +GARD:0019852,ICD-10,C17.3,BTNT +GARD:0019853,Orphanet,104077,Exact +GARD:0019853,ICD-10,K59.8,NTBT +GARD:0019854,Orphanet,104078,Exact +GARD:0019854,ICD-10,K59.8,NTBT +GARD:0019855,Orphanet,108959,Exact +GARD:0019856,Orphanet,108961,Exact +GARD:0019857,Orphanet,108963,Exact +GARD:0019858,Orphanet,108965,Exact +GARD:0019859,Orphanet,108967,Exact +GARD:0019860,Orphanet,108969,Exact +GARD:0019861,Orphanet,108971,Exact +GARD:0019862,Orphanet,108973,Exact +GARD:0019863,Orphanet,108977,Exact +GARD:0019864,Orphanet,108979,Exact +GARD:0019865,Orphanet,108989,Exact +GARD:0019866,Orphanet,108991,Exact +GARD:0019867,Orphanet,108993,Exact +GARD:0019868,Orphanet,108995,Exact +GARD:0019869,Orphanet,108997,Exact +GARD:0019869,UMLS,C0002871,Exact +GARD:0019870,Orphanet,109007,Exact +GARD:0019870,MeSH,D001176,Exact +GARD:0019870,UMLS,C0003886,Exact +GARD:0019870,ICD-10,Q68.8,NTBT +GARD:0019871,Orphanet,109009,Exact +GARD:0019871,ICD-10,Q87.2,Exact +GARD:0019872,Orphanet,109011,Exact +GARD:0019873,Orphanet,117569,Exact +GARD:0019873,UMLS,C0021831,Exact +GARD:0019874,Orphanet,117573,Exact +GARD:0019875,Orphanet,137577,Exact +GARD:0019875,UMLS,C0752304,Exact +GARD:0019875,ICD-10,P91.6,Exact +GARD:0019875,ICD-11,KB04,Exact +GARD:0019876,SNOMED-CT,399933001,NA +GARD:0019876,Orphanet,137583,Exact +GARD:0019876,ICD-10,D07.1,NTBT +GARD:0019876,UMLS,C0346210,Exact +GARD:0019877,Orphanet,137593,Exact +GARD:0019877,SNOMED-CT,771232003,NA +GARD:0019878,SNOMED-CT,128080005,NA +GARD:0019878,Orphanet,137596,Exact +GARD:0019878,MedDRA,10069732,Exact +GARD:0019878,ICD-10,H16.2,NTBT +GARD:0019878,UMLS,C0339296,Exact +GARD:0019879,Orphanet,137599,Exact +GARD:0019879,UMLS,C1318020,Exact +GARD:0019879,ICD-10,H16.3,NTBT +GARD:0019879,SNOMED-CT,397570008,NA +GARD:0019880,Orphanet,137602,Exact +GARD:0019880,SNOMED-CT,373425009,NA +GARD:0019881,SNOMED-CT,763867001,NA +GARD:0019881,Orphanet,137608,Exact +GARD:0019882,SNOMED-CT,720009004,NA +GARD:0019882,Orphanet,137622,Exact +GARD:0019882,ICD-10,Q87.8,NTBT +GARD:0019883,Orphanet,137628,Exact +GARD:0019883,ICD-10,Q28.8,NTBT +GARD:0019883,SNOMED-CT,720605009,NA +GARD:0019884,Orphanet,137698,Exact +GARD:0019884,SNOMED-CT,111032003,NA +GARD:0019884,ICD-10,B25.8,NTBT +GARD:0019885,Orphanet,137814,Exact +GARD:0019885,ICD-10,L99.0*,NTBT +GARD:0019885,ICD-10,E85.4+,NTBT +GARD:0019886,Orphanet,137820,Exact +GARD:0019886,ICD-10,N80.5,BTNT +GARD:0019886,UMLS,C0014175,Exact +GARD:0019886,ICD-10,N80.4,BTNT +GARD:0019886,ICD-10,N80.1,BTNT +GARD:0019886,ICD-10,N80.3,BTNT +GARD:0019886,ICD-10,N80.2,BTNT +GARD:0019886,ICD-10,N80.0,BTNT +GARD:0019886,ICD-10,N80.8,BTNT +GARD:0019886,ICD-10,N80.6,BTNT +GARD:0019886,ICD-10,N80.9,BTNT +GARD:0019886,SNOMED-CT,237117005,NA +GARD:0019887,SNOMED-CT,230255008,NA +GARD:0019887,Orphanet,137867,Exact +GARD:0019887,ICD-10,G12.2,NTBT +GARD:0019887,UMLS,C0393551,Exact +GARD:0019887,ICD-11,8B60.7,Exact +GARD:0019888,Orphanet,137905,Exact +GARD:0019889,Orphanet,137917,Exact +GARD:0019889,ICD-10,Q30.0,NTBT +GARD:0019890,Orphanet,137920,Exact +GARD:0019890,ICD-10,Q30.0,NTBT +GARD:0019891,Orphanet,137926,Exact +GARD:0019891,ICD-10,D18.1,NTBT +GARD:0019891,SNOMED-CT,763617006,NA +GARD:0019892,SNOMED-CT,770664009,NA +GARD:0019892,Orphanet,137929,Exact +GARD:0019892,ICD-10,G93.8,NTBT +GARD:0019893,Orphanet,137935,Exact +GARD:0019893,SNOMED-CT,703199001,NA +GARD:0019893,ICD-10,D18.0,NTBT +GARD:0019894,Orphanet,138041,Exact +GARD:0019895,Orphanet,138044,Exact +GARD:0019895,UMLS,C0031900,Exact +GARD:0019896,Orphanet,138047,Exact +GARD:0019897,Orphanet,138050,Exact +GARD:0019898,Orphanet,138055,Exact +GARD:0019899,Orphanet,138059,Exact +GARD:0019900,Orphanet,139009,Exact +GARD:0019901,Orphanet,139012,Exact +GARD:0019901,UMLS,C0005941,Exact +GARD:0019902,Orphanet,139021,Exact +GARD:0019903,Orphanet,139024,Exact +GARD:0019904,Orphanet,139027,Exact +GARD:0019905,Orphanet,139030,Exact +GARD:0019906,Orphanet,139033,Exact +GARD:0019907,Orphanet,139036,Exact +GARD:0019908,Orphanet,139039,Exact +GARD:0019909,Orphanet,139042,Exact +GARD:0019910,Orphanet,139390,Exact +GARD:0019910,UMLS,C0010278,Exact +GARD:0019910,ICD-10,Q75.0,NTBT +GARD:0019911,Orphanet,139393,Exact +GARD:0019912,Orphanet,139414,Exact +GARD:0019912,SNOMED-CT,770940006,NA +GARD:0019913,SNOMED-CT,47000000,NA +GARD:0019913,Orphanet,139417,Exact +GARD:0019913,UMLS,C0270627,Exact +GARD:0019913,ICD-10,G37.3,NTBT +GARD:0019914,SNOMED-CT,425756000,NA +GARD:0019914,Orphanet,139423,Exact +GARD:0019914,ICD-10,G37.3,NTBT +GARD:0019915,Orphanet,139426,Exact +GARD:0019915,ICD-10,G40.4,NTBT +GARD:0019915,SNOMED-CT,766815007,NA +GARD:0019916,Orphanet,139431,Exact +GARD:0019916,SNOMED-CT,716278005,NA +GARD:0019916,ICD-10,G40.3,NTBT +GARD:0019917,SNOMED-CT,719403003,NA +GARD:0019917,Orphanet,139444,Exact +GARD:0019917,ICD-10,E75.2,NTBT +GARD:0019918,SNOMED-CT,719267003,NA +GARD:0019918,Orphanet,139447,Exact +GARD:0019918,ICD-10,E75.2,NTBT +GARD:0019919,Orphanet,139512,Exact +GARD:0019919,ICD-10,G60.8,NTBT +GARD:0019919,ICD-11,LD2H.1,Exact +GARD:0019919,SNOMED-CT,723497003,NA +GARD:0019920,Orphanet,139573,Exact +GARD:0019920,ICD-10,G60.8,NTBT +GARD:0019920,SNOMED-CT,717826009,NA +GARD:0019921,Orphanet,140162,Exact +GARD:0019922,Orphanet,140286,Exact +GARD:0019922,ICD-10,E20.8,NTBT +GARD:0019922,SNOMED-CT,717895004,NA +GARD:0019923,Orphanet,140453,Exact +GARD:0019923,ICD-10,G60.0,NTBT +GARD:0019924,Orphanet,140456,Exact +GARD:0019924,ICD-10,G60.0,NTBT +GARD:0019925,Orphanet,140459,Exact +GARD:0019925,ICD-10,G60.0,NTBT +GARD:0019926,Orphanet,140465,Exact +GARD:0019926,ICD-10,G12.1,NTBT +GARD:0019927,Orphanet,140468,Exact +GARD:0019927,ICD-10,G12.2,NTBT +GARD:0019928,Orphanet,140474,Exact +GARD:0019928,ICD-10,G60.8,NTBT +GARD:0019929,Orphanet,140477,Exact +GARD:0019929,ICD-10,G60.8,NTBT +GARD:0019930,Orphanet,140653,Exact +GARD:0019931,Orphanet,140874,Exact +GARD:0019932,Orphanet,140933,Exact +GARD:0019932,UMLS,C1274753,Exact +GARD:0019932,ICD-10,L90.8,NTBT +GARD:0019932,SNOMED-CT,403395007,NA +GARD:0019933,Orphanet,140949,Exact +GARD:0019933,ICD-10,N48.3,NTBT +GARD:0019934,Orphanet,141013,Exact +GARD:0019934,ICD-10,Q18.0,NTBT +GARD:0019935,Orphanet,141030,Exact +GARD:0019935,ICD-10,Q18.0,NTBT +GARD:0019936,Orphanet,141037,Exact +GARD:0019936,ICD-10,Q18.0,NTBT +GARD:0019937,SNOMED-CT,763129001,NA +GARD:0019937,Orphanet,141046,Exact +GARD:0019937,ICD-10,Q18.8,NTBT +GARD:0019938,Orphanet,141051,Exact +GARD:0019938,ICD-10,Q18.8,NTBT +GARD:0019938,SNOMED-CT,763220008,NA +GARD:0019939,Orphanet,141061,Exact +GARD:0019939,ICD-10,Q38.0,NTBT +GARD:0019940,SNOMED-CT,403438007,NA +GARD:0019940,Orphanet,141064,Exact +GARD:0019940,ICD-10,Q38.0,NTBT +GARD:0019941,Orphanet,141067,Exact +GARD:0019941,SNOMED-CT,827174006,NA +GARD:0019941,ICD-10,Q18.8,NTBT +GARD:0019942,Orphanet,141071,Exact +GARD:0019942,ICD-10,Q38.3,NTBT +GARD:0019942,SNOMED-CT,726703000,NA +GARD:0019943,Orphanet,141077,Exact +GARD:0019943,ICD-10,D37.0,NTBT +GARD:0019943,UMLS,C0266725,Exact +GARD:0019943,SNOMED-CT,31248004,NA +GARD:0019944,Orphanet,141083,Exact +GARD:0019944,ICD-10,H04.6,NTBT +GARD:0019944,UMLS,C0155241,Exact +GARD:0019945,Orphanet,141091,Exact +GARD:0019945,ICD-10,Q30.8,NTBT +GARD:0019945,SNOMED-CT,716279002,NA +GARD:0019946,SNOMED-CT,719163006,NA +GARD:0019946,Orphanet,141096,Exact +GARD:0019946,ICD-10,Q30.8,NTBT +GARD:0019947,Orphanet,141099,Exact +GARD:0019947,SNOMED-CT,715828006,NA +GARD:0019947,ICD-10,Q30.8,NTBT +GARD:0019948,Orphanet,141107,Exact +GARD:0019948,ICD-10,D10.6,NTBT +GARD:0019949,SNOMED-CT,5645008,NA +GARD:0019949,Orphanet,141112,Exact +GARD:0019949,UMLS,C0266490,Exact +GARD:0019949,ICD-10,Q30.8,NTBT +GARD:0019950,Orphanet,141115,Exact +GARD:0019950,ICD-10,D33.2,NTBT +GARD:0019951,SNOMED-CT,65455002,NA +GARD:0019951,Orphanet,141118,Exact +GARD:0019951,ICD-11,LA01,NTBT +GARD:0019951,UMLS,C0014066,Exact +GARD:0019951,ICD-10,Q01.1,Exact +GARD:0019952,Orphanet,141121,Exact +GARD:0019952,ICD-10,Q31.1,Exact +GARD:0019952,ICD-11,LA71.3,Exact +GARD:0019952,UMLS,C0396051,Exact +GARD:0019952,UMLS,C0238441,Exact +GARD:0019952,SNOMED-CT,204552001,NA +GARD:0019953,Orphanet,141124,Exact +GARD:0019953,UMLS,C0339880,Exact +GARD:0019953,ICD-10,Q31.8,NTBT +GARD:0019953,SNOMED-CT,765763007,NA +GARD:0019954,Orphanet,141163,Exact +GARD:0019954,ICD-10,Q38.3,NTBT +GARD:0019954,SNOMED-CT,717814004,NA +GARD:0019955,SNOMED-CT,703336003,NA +GARD:0019955,Orphanet,141168,Exact +GARD:0019955,ICD-10,Q27.3,NTBT +GARD:0019956,Orphanet,141171,Exact +GARD:0019956,ICD-10,Q27.3,NTBT +GARD:0019956,SNOMED-CT,703335004,NA +GARD:0019957,SNOMED-CT,703334000,NA +GARD:0019957,Orphanet,141174,Exact +GARD:0019957,ICD-10,Q27.3,NTBT +GARD:0019958,Orphanet,141184,Exact +GARD:0019958,UMLS,C1275421,Exact +GARD:0019958,ICD-10,D18.0,NTBT +GARD:0019958,SNOMED-CT,703294004,NA +GARD:0019959,Orphanet,141194,Exact +GARD:0019959,ICD-10,Q28.2,NTBT +GARD:0019959,SNOMED-CT,703267003,NA +GARD:0019960,Orphanet,141199,Exact +GARD:0019960,ICD-10,Q28.2,NTBT +GARD:0019960,SNOMED-CT,703268008,NA +GARD:0019961,Orphanet,141209,Exact +GARD:0019961,SNOMED-CT,703298001,NA +GARD:0019961,ICD-10,I89.8,NTBT +GARD:0019962,Orphanet,141214,Exact +GARD:0019962,ICD-10,Q67.4,NTBT +GARD:0019962,SNOMED-CT,763317002,NA +GARD:0019963,Orphanet,141219,Exact +GARD:0019963,ICD-10,Q18.8,NTBT +GARD:0019963,SNOMED-CT,232384005,NA +GARD:0019964,Orphanet,141229,Exact +GARD:0019964,UMLS,C0685787,Exact +GARD:0019964,ICD-10,Q18.8,NTBT +GARD:0019964,ICD-11,LA51,Exact +GARD:0019965,Orphanet,141234,Exact +GARD:0019965,ICD-10,Q18.8,NTBT +GARD:0019965,SNOMED-CT,254005007,NA +GARD:0019966,Orphanet,141239,Exact +GARD:0019966,ICD-10,Q18.8,NTBT +GARD:0019966,SNOMED-CT,699700006,NA +GARD:0019967,Orphanet,141253,Exact +GARD:0019967,ICD-10,Q18.8,NTBT +GARD:0019968,Orphanet,141261,Exact +GARD:0019968,ICD-10,Q18.8,NTBT +GARD:0019968,SNOMED-CT,254017009,NA +GARD:0019969,SNOMED-CT,254018004,NA +GARD:0019969,Orphanet,141265,Exact +GARD:0019969,ICD-10,Q18.8,NTBT +GARD:0019970,Orphanet,141269,Exact +GARD:0019970,ICD-10,Q18.8,NTBT +GARD:0019971,SNOMED-CT,403557001,NA +GARD:0019971,Orphanet,141288,Exact +GARD:0019971,UMLS,C1274890,Exact +GARD:0019971,ICD-10,Q18.8,NTBT +GARD:0019972,Orphanet,155832,Exact +GARD:0019973,Orphanet,155835,Exact +GARD:0019973,ICD-10,Q18.0,NTBT +GARD:0019974,Orphanet,155838,Exact +GARD:0019974,ICD-10,Q18.1,NTBT +GARD:0019975,Orphanet,155867,Exact +GARD:0019975,ICD-10,Q18.8,NTBT +GARD:0019976,Orphanet,155878,Exact +GARD:0019976,ICD-10,Q35.9,NTBT +GARD:0019977,Orphanet,155884,Exact +GARD:0019977,ICD-10,Q10.3,NTBT +GARD:0019977,SNOMED-CT,763132003,NA +GARD:0019978,Orphanet,155889,Exact +GARD:0019978,ICD-10,Q10.3,NTBT +GARD:0019978,SNOMED-CT,763133008,NA +GARD:0019979,Orphanet,155896,Exact +GARD:0019979,ICD-11,LD2F.16,Exact +GARD:0019980,Orphanet,155899,Exact +GARD:0019980,ICD-11,LD2F.16,NTBT +GARD:0019980,MeSH,D008342,Exact +GARD:0019980,MedDRA,10051456,Exact +GARD:0019980,UMLS,C0242387,Exact +GARD:0019980,ICD-10,Q75.4,Exact +GARD:0019981,Orphanet,156140,Exact +GARD:0019982,Orphanet,156143,Exact +GARD:0019983,Orphanet,156146,Exact +GARD:0019984,Orphanet,156149,Exact +GARD:0019985,Orphanet,156159,Exact +GARD:0019985,ICD-10,G24.1,NTBT +GARD:0019986,Orphanet,156162,Exact +GARD:0019987,Orphanet,156165,Exact +GARD:0019988,Orphanet,156168,Exact +GARD:0019989,Orphanet,156171,Exact +GARD:0019990,Orphanet,156174,Exact +GARD:0019991,Orphanet,156177,Exact +GARD:0019992,Orphanet,156180,Exact +GARD:0019993,Orphanet,156183,Exact +GARD:0019994,Orphanet,156202,Exact +GARD:0019995,Orphanet,156212,Exact +GARD:0019995,ICD-10,Q38.3,NTBT +GARD:0019996,Orphanet,156215,Exact +GARD:0019997,Orphanet,156224,Exact +GARD:0019997,ICD-10,Q87.0,NTBT +GARD:0019998,Orphanet,156237,Exact +GARD:0019999,Orphanet,156243,Exact +GARD:0020000,Orphanet,156246,Exact +GARD:0020000,ICD-10,Q30.8,BTNT +GARD:0020000,ICD-10,Q30.1,BTNT +GARD:0020000,ICD-10,Q30.3,BTNT +GARD:0020000,ICD-10,Q30.2,BTNT +GARD:0020000,ICD-10,Q30.0,BTNT +GARD:0020000,ICD-10,Q30.9,BTNT +GARD:0020001,Orphanet,156249,Exact +GARD:0020001,ICD-10,Q31.1,BTNT +GARD:0020001,ICD-10,Q31.9,BTNT +GARD:0020001,ICD-10,Q31.3,BTNT +GARD:0020001,ICD-10,Q31.8,BTNT +GARD:0020001,ICD-10,Q31.0,BTNT +GARD:0020001,ICD-10,Q31.5,BTNT +GARD:0020002,Orphanet,156252,Exact +GARD:0020003,Orphanet,156532,Exact +GARD:0020004,Orphanet,156601,Exact +GARD:0020005,Orphanet,156604,Exact +GARD:0020006,Orphanet,156607,Exact +GARD:0020007,Orphanet,156610,Exact +GARD:0020008,Orphanet,156619,Exact +GARD:0020009,Orphanet,156622,Exact +GARD:0020010,Orphanet,156629,Exact +GARD:0020011,Orphanet,156638,Exact +GARD:0020012,Orphanet,156643,Exact +GARD:0020013,Orphanet,157769,Exact +GARD:0020013,MedDRA,10059119,Exact +GARD:0020013,ICD-10,Q89.3,NTBT +GARD:0020013,UMLS,C1167664,Exact +GARD:0020013,UMLS,C0266642,Exact +GARD:0020013,SNOMED-CT,14821001,NA +GARD:0020014,SNOMED-CT,403981003,NA +GARD:0020014,Orphanet,157791,Exact +GARD:0020014,UMLS,C0206732,Exact +GARD:0020014,ICD-10,D48.1,NTBT +GARD:0020014,MeSH,D018323,Exact +GARD:0020015,Orphanet,157808,Exact +GARD:0020015,OMIM,609143,BTNT +GARD:0020015,SNOMED-CT,782689003,NA +GARD:0020016,Orphanet,157826,Exact +GARD:0020016,UMLS,C0376319,Exact +GARD:0020016,ICD-10,K06.8,NTBT +GARD:0020016,SNOMED-CT,360525006,NA +GARD:0020017,Orphanet,157843,Exact +GARD:0020017,ICD-11,8A82,Exact +GARD:0020017,MeSH,D051303,Exact +GARD:0020017,ICD-10,G44.8,NTBT +GARD:0020017,UMLS,C1565172,Exact +GARD:0020017,SNOMED-CT,449814007,NA +GARD:0020018,Orphanet,157991,Exact +GARD:0020018,ICD-10,D76.3,NTBT +GARD:0020018,SNOMED-CT,110980006,NA +GARD:0020019,Orphanet,157997,Exact +GARD:0020019,ICD-10,D76.3,NTBT +GARD:0020019,UMLS,C0347403,Exact +GARD:0020019,SNOMED-CT,255192005,NA +GARD:0020020,Orphanet,158000,Exact +GARD:0020020,ICD-11,2B31.0,Exact +GARD:0020020,UMLS,C0043324,Exact +GARD:0020020,MeSH,D014972,Exact +GARD:0020020,ICD-10,D76.3,NTBT +GARD:0020020,SNOMED-CT,400031009,NA +GARD:0020021,Orphanet,158008,Exact +GARD:0020021,ICD-10,D76.3,NTBT +GARD:0020021,SNOMED-CT,765221009,NA +GARD:0020022,SNOMED-CT,721313009,NA +GARD:0020022,Orphanet,158019,Exact +GARD:0020022,ICD-10,D76.3,NTBT +GARD:0020023,Orphanet,158022,Exact +GARD:0020023,ICD-10,D76.3,NTBT +GARD:0020023,SNOMED-CT,765141005,NA +GARD:0020024,SNOMED-CT,234437005,NA +GARD:0020024,Orphanet,158032,Exact +GARD:0020024,UMLS,C3887558,Exact +GARD:0020024,MedDRA,10058125,Exact +GARD:0020024,UMLS,C0024291,Exact +GARD:0020025,Orphanet,158038,Exact +GARD:0020025,MedDRA,10070904,Exact +GARD:0020025,UMLS,C0272199,Exact +GARD:0020026,Orphanet,158041,Exact +GARD:0020026,UMLS,C0019068,Exact +GARD:0020027,Orphanet,158057,Exact +GARD:0020027,ICD-10,D76.1,NTBT +GARD:0020027,SNOMED-CT,782915004,NA +GARD:0020028,Orphanet,158124,Exact +GARD:0020029,Orphanet,158266,Exact +GARD:0020029,UMLS,C3711380,Exact +GARD:0020030,Orphanet,158300,Exact +GARD:0020031,SNOMED-CT,733638006,NA +GARD:0020031,Orphanet,158673,Exact +GARD:0020031,ICD-10,Q81.2,NTBT +GARD:0020032,Orphanet,158676,Exact +GARD:0020032,ICD-10,Q81.2,NTBT +GARD:0020032,SNOMED-CT,722436002,NA +GARD:0020033,Orphanet,158766,Exact +GARD:0020033,ICD-10,Q82.2,NTBT +GARD:0020034,Orphanet,158769,Exact +GARD:0020034,ICD-10,Q82.2,NTBT +GARD:0020035,Orphanet,158772,Exact +GARD:0020035,ICD-10,Q82.2,NTBT +GARD:0020036,Orphanet,158775,Exact +GARD:0020036,ICD-10,C96.2,NTBT +GARD:0020037,Orphanet,158778,Exact +GARD:0020037,ICD-10,C96.2,NTBT +GARD:0020038,Orphanet,160148,Exact +GARD:0020038,SNOMED-CT,720604008,NA +GARD:0020038,ICD-10,D12.6,NTBT +GARD:0020039,Orphanet,162516,Exact +GARD:0020039,ICD-10,Q30.8,NTBT +GARD:0020039,SNOMED-CT,702644002,NA +GARD:0020040,SNOMED-CT,75922002,NA +GARD:0020040,Orphanet,162526,Exact +GARD:0020040,ICD-10,Q16.3,Exact +GARD:0020040,ICD-11,LA22.3,Exact +GARD:0020041,Orphanet,163209,Exact +GARD:0020041,ICD-10,Q04.8,NTBT +GARD:0020042,Orphanet,163525,Exact +GARD:0020042,MedDRA,10057903,Exact +GARD:0020042,ICD-11,EB50,Exact +GARD:0020042,UMLS,C0024140,Exact +GARD:0020042,ICD-10,L93.1,Exact +GARD:0020042,SNOMED-CT,239891002,NA +GARD:0020043,Orphanet,163531,Exact +GARD:0020043,ICD-11,EB51,Exact +GARD:0020043,ICD-10,L93.0,NTBT +GARD:0020043,MedDRA,10057929,Exact +GARD:0020043,ICD-10,L93.2,NTBT +GARD:0020044,Orphanet,163582,Exact +GARD:0020044,UMLS,C0004623,Exact +GARD:0020045,Orphanet,163585,Exact +GARD:0020045,UMLS,C0042769,Exact +GARD:0020045,UMLS,C0042740,Exact +GARD:0020046,Orphanet,163588,Exact +GARD:0020046,UMLS,C0030499,Exact +GARD:0020046,UMLS,C0747256,Exact +GARD:0020047,Orphanet,163591,Exact +GARD:0020047,UMLS,C0026946,Exact +GARD:0020048,Orphanet,163631,Exact +GARD:0020048,ICD-10,K76.8,NTBT +GARD:0020048,ICD-11,5C52.11,Exact +GARD:0020049,Orphanet,163637,Exact +GARD:0020050,SNOMED-CT,778063003,NA +GARD:0020050,Orphanet,163708,Exact +GARD:0020050,ICD-10,G40.4,NTBT +GARD:0020051,SNOMED-CT,773275000,NA +GARD:0020051,Orphanet,163921,Exact +GARD:0020051,ICD-10,G04.8,NTBT +GARD:0020052,Orphanet,163931,Exact +GARD:0020052,SNOMED-CT,83839005,NA +GARD:0020052,ICD-10,L40.2,NTBT +GARD:0020052,ICD-11,EA90.41,Exact +GARD:0020053,Orphanet,163934,Exact +GARD:0020053,SNOMED-CT,403434009,NA +GARD:0020053,UMLS,C1274788,Exact +GARD:0020053,MedDRA,10069664,Exact +GARD:0020053,ICD-10,H16.2,NTBT +GARD:0020054,Orphanet,163971,Exact +GARD:0020054,ICD-10,Q87.8,NTBT +GARD:0020054,SNOMED-CT,719013004,NA +GARD:0020055,Orphanet,164001,Exact +GARD:0020056,Orphanet,164004,Exact +GARD:0020056,ICD-10,Q16.4,BTNT +GARD:0020056,ICD-10,Q16.3,BTNT +GARD:0020056,MedDRA,10060957,Exact +GARD:0020056,UMLS,C0266599,Exact +GARD:0020057,Orphanet,164726,Exact +GARD:0020057,SNOMED-CT,766048008,NA +GARD:0020057,ICD-10,D46,ND (not yet decided/unable to decide) +GARD:0020058,Orphanet,164823,Exact +GARD:0020058,ICD-10,D61.1,BTNT +GARD:0020058,ICD-10,D61.2,BTNT +GARD:0020059,Orphanet,165652,Exact +GARD:0020060,Orphanet,165655,Exact +GARD:0020061,Orphanet,165658,Exact +GARD:0020062,Orphanet,165661,Exact +GARD:0020063,Orphanet,165704,Exact +GARD:0020064,Orphanet,165707,Exact +GARD:0020065,Orphanet,165955,Exact +GARD:0020065,ICD-10,B87.1,NTBT +GARD:0020065,SNOMED-CT,240880004,NA +GARD:0020065,UMLS,C0344061,Exact +GARD:0020066,Orphanet,165958,Exact +GARD:0020066,SNOMED-CT,764811001,NA +GARD:0020066,ICD-10,B87.8,NTBT +GARD:0020067,Orphanet,165985,Exact +GARD:0020067,ICD-10,E16.1,NTBT +GARD:0020068,Orphanet,165988,Exact +GARD:0020068,ICD-10,E16.1,NTBT +GARD:0020069,Orphanet,166113,Exact +GARD:0020069,UMLS,C0346104,Exact +GARD:0020069,UMLS,C0406355,Exact +GARD:0020069,SNOMED-CT,238640007,NA +GARD:0020070,Orphanet,166286,Exact +GARD:0020070,ICD-10,Q82.5,NTBT +GARD:0020070,UMLS,C0473579,Exact +GARD:0020070,SNOMED-CT,239118007,NA +GARD:0020071,Orphanet,166295,Exact +GARD:0020071,ICD-10,G40.4,NTBT +GARD:0020072,SNOMED-CT,770624005,NA +GARD:0020072,Orphanet,166299,Exact +GARD:0020072,ICD-10,G40.2,NTBT +GARD:0020073,Orphanet,166302,Exact +GARD:0020073,ICD-10,G40.1,NTBT +GARD:0020073,SNOMED-CT,771141002,NA +GARD:0020074,SNOMED-CT,765756007,NA +GARD:0020074,Orphanet,166305,Exact +GARD:0020074,ICD-10,G40.4,NTBT +GARD:0020075,SNOMED-CT,770622009,NA +GARD:0020075,Orphanet,166308,Exact +GARD:0020075,ICD-10,G40.0,NTBT +GARD:0020076,Orphanet,166311,Exact +GARD:0020077,Orphanet,166415,Exact +GARD:0020077,UMLS,C0751791,Exact +GARD:0020077,ICD-10,G40.5,NTBT +GARD:0020077,SNOMED-CT,765216006,NA +GARD:0020078,Orphanet,166418,Exact +GARD:0020078,UMLS,C0393725,Exact +GARD:0020078,ICD-10,G40.5,NTBT +GARD:0020078,SNOMED-CT,230450001,NA +GARD:0020079,SNOMED-CT,763827002,NA +GARD:0020079,Orphanet,166421,Exact +GARD:0020079,ICD-10,G40.5,NTBT +GARD:0020080,Orphanet,166424,Exact +GARD:0020080,ICD-10,G40.5,NTBT +GARD:0020080,SNOMED-CT,763622006,NA +GARD:0020081,SNOMED-CT,763632004,NA +GARD:0020081,Orphanet,166427,Exact +GARD:0020081,ICD-10,G40.5,NTBT +GARD:0020082,Orphanet,166430,Exact +GARD:0020082,ICD-10,G40.5,NTBT +GARD:0020082,SNOMED-CT,763802009,NA +GARD:0020083,Orphanet,166463,Exact +GARD:0020084,Orphanet,166466,Exact +GARD:0020085,Orphanet,166469,Exact +GARD:0020086,Orphanet,166472,Exact +GARD:0020087,Orphanet,166475,Exact +GARD:0020088,Orphanet,166478,Exact +GARD:0020089,Orphanet,166481,Exact +GARD:0020089,UMLS,C1299598,Exact +GARD:0020090,Orphanet,166484,Exact +GARD:0020091,Orphanet,166487,Exact +GARD:0020092,Orphanet,166490,Exact +GARD:0020093,Orphanet,166775,Exact +GARD:0020094,Orphanet,167759,Exact +GARD:0020094,ICD-10,K00.5,NTBT +GARD:0020095,Orphanet,167762,Exact +GARD:0020095,UMLS,C0011436,Exact +GARD:0020096,Orphanet,167848,Exact +GARD:0020096,MeSH,D009202,Exact +GARD:0020096,UMLS,C0878544,Exact +GARD:0020096,MedDRA,10007636,Exact +GARD:0020097,Orphanet,168194,Exact +GARD:0020097,UMLS,C0018809,Exact +GARD:0020098,Orphanet,168621,Exact +GARD:0020098,SNOMED-CT,715861004,NA +GARD:0020098,ICD-10,Q78.8,NTBT +GARD:0020099,Orphanet,168778,Exact +GARD:0020099,ICD-10,F84.5,BTNT +GARD:0020099,UMLS,C0524528,Exact +GARD:0020099,ICD-10,F84.3,BTNT +GARD:0020099,ICD-10,F84.0,BTNT +GARD:0020099,ICD-10,F84.1,BTNT +GARD:0020099,MedDRA,10061345,Exact +GARD:0020099,ICD-10,F84.2,BTNT +GARD:0020099,MeSH,D002659,Exact +GARD:0020099,ICD-10,F84.4,BTNT +GARD:0020099,ICD-10,F84.9,BTNT +GARD:0020099,ICD-10,F84.8,BTNT +GARD:0020100,Orphanet,168803,Exact +GARD:0020101,Orphanet,168807,Exact +GARD:0020101,ICD-10,C45.1,BTNT +GARD:0020101,ICD-10,C48.1,BTNT +GARD:0020101,ICD-10,C48.2,BTNT +GARD:0020102,Orphanet,168811,Exact +GARD:0020102,UMLS,C0346109,Exact +GARD:0020102,ICD-11,2C51.2,Exact +GARD:0020102,MedDRA,10056558,Exact +GARD:0020102,ICD-10,C45.1,Exact +GARD:0020102,SNOMED-CT,109853004,NA +GARD:0020103,Orphanet,168829,Exact +GARD:0020103,ICD-10,C48.2,NTBT +GARD:0020103,SNOMED-CT,716649003,NA +GARD:0020104,Orphanet,168940,Exact +GARD:0020104,MedDRA,10065854,Exact +GARD:0020104,ICD-10,D47.5,Exact +GARD:0020104,ICD-11,2A20.3,Exact +GARD:0020104,UMLS,C0346421,Exact +GARD:0020104,SNOMED-CT,188733003,NA +GARD:0020105,Orphanet,168943,Exact +GARD:0020106,SNOMED-CT,738527001,NA +GARD:0020106,Orphanet,168947,Exact +GARD:0020106,ICD-10,D47.1,NTBT +GARD:0020106,ICD-11,2A50,Exact +GARD:0020107,Orphanet,168950,Exact +GARD:0020107,ICD-10,D47.1,NTBT +GARD:0020107,ICD-11,2A51,Exact +GARD:0020107,UMLS,C3472621,Exact +GARD:0020107,SNOMED-CT,724642009,NA +GARD:0020108,Orphanet,168960,Exact +GARD:0020108,ICD-10,D46.3,NTBT +GARD:0020108,MedDRA,10038271,Exact +GARD:0020108,UMLS,C0280028,Exact +GARD:0020108,UMLS,C0002894,Exact +GARD:0020108,SNOMED-CT,110000005,NA +GARD:0020109,Orphanet,168966,Exact +GARD:0020109,UMLS,C1266191,Exact +GARD:0020109,MeSH,D058617,Exact +GARD:0020109,ICD-10,C85.7,NTBT +GARD:0020109,ICD-10,C81.7,NTBT +GARD:0020109,UMLS,C0545080,Exact +GARD:0020109,SNOMED-CT,1156403002,NA +GARD:0020110,Orphanet,168999,Exact +GARD:0020110,ICD-10,C43.9,ND (not yet decided/unable to decide) +GARD:0020110,SNOMED-CT,783736003,NA +GARD:0020111,SNOMED-CT,234539005,NA +GARD:0020111,Orphanet,169110,Exact +GARD:0020111,UMLS,C0398692,Exact +GARD:0020111,ICD-10,D80.8,NTBT +GARD:0020112,Orphanet,169139,Exact +GARD:0020112,ICD-11,4A01.03,Exact +GARD:0020112,ICD-10,D80.7,Exact +GARD:0020112,MedDRA,10044388,Exact +GARD:0020112,UMLS,C0272238,Exact +GARD:0020112,SNOMED-CT,88714009,NA +GARD:0020113,Orphanet,169163,Exact +GARD:0020113,UMLS,C3267076,Exact +GARD:0020113,ICD-10,Q75.0,NTBT +GARD:0020113,MedDRA,10072229,Exact +GARD:0020114,Orphanet,169346,Exact +GARD:0020114,ICD-11,4A01.31,Exact +GARD:0020115,Orphanet,169349,Exact +GARD:0020115,ICD-11,4A01.32,Exact +GARD:0020115,UMLS,C0432218,Exact +GARD:0020115,SNOMED-CT,254067002,NA +GARD:0020116,Orphanet,169355,Exact +GARD:0020116,ICD-11,4A01.21,Exact +GARD:0020117,Orphanet,169361,Exact +GARD:0020118,Orphanet,169443,Exact +GARD:0020118,ICD-11,4A01.02,Exact +GARD:0020118,ICD-10,D80.6,Exact +GARD:0020119,Orphanet,169615,Exact +GARD:0020119,UMLS,C0342544,Exact +GARD:0020119,ICD-10,E22.8,NTBT +GARD:0020119,SNOMED-CT,237817008,NA +GARD:0020120,Orphanet,169618,Exact +GARD:0020120,ICD-10,E22.8,NTBT +GARD:0020121,Orphanet,169826,Exact +GARD:0020121,ICD-10,D68.2,NTBT +GARD:0020122,Orphanet,171220,Exact +GARD:0020122,ICD-10,Q43.4,NTBT +GARD:0020122,SNOMED-CT,725910009,NA +GARD:0020123,SNOMED-CT,417089009,NA +GARD:0020123,Orphanet,171673,Exact +GARD:0020123,UMLS,C1561989,Exact +GARD:0020124,Orphanet,171684,Exact +GARD:0020124,ICD-10,H81.8,NTBT +GARD:0020124,ICD-11,AB34.0,Exact +GARD:0020124,SNOMED-CT,737580004,NA +GARD:0020125,Orphanet,171703,Exact +GARD:0020125,ICD-10,Q04.3,NTBT +GARD:0020125,SNOMED-CT,773305003,NA +GARD:0020126,Orphanet,171829,Exact +GARD:0020126,ICD-10,Q93.5,NTBT +GARD:0020127,Orphanet,171839,Exact +GARD:0020127,SNOMED-CT,720815000,NA +GARD:0020127,ICD-10,Q87.8,NTBT +GARD:0020127,UMLS,C3267187,Exact +GARD:0020128,Orphanet,171860,Exact +GARD:0020128,SNOMED-CT,722003007,NA +GARD:0020129,Orphanet,171889,Exact +GARD:0020129,ICD-10,G71.2,NTBT +GARD:0020129,SNOMED-CT,764994007,NA +GARD:0020130,Orphanet,171895,Exact +GARD:0020131,Orphanet,171898,Exact +GARD:0020132,Orphanet,171915,Exact +GARD:0020133,Orphanet,171918,Exact +GARD:0020133,UMLS,C0079772,Exact +GARD:0020133,MedDRA,10042971,Exact +GARD:0020133,SNOMED-CT,109978004,NA +GARD:0020134,Orphanet,172976,Exact +GARD:0020134,ICD-10,G71.2,NTBT +GARD:0020135,Orphanet,174590,Exact +GARD:0020135,ICD-10,E23.0,NTBT +GARD:0020136,Orphanet,177101,Exact +GARD:0020137,Orphanet,177107,Exact +GARD:0020138,Orphanet,177901,Exact +GARD:0020138,ICD-10,Q87.1,NTBT +GARD:0020139,Orphanet,177904,Exact +GARD:0020139,ICD-10,Q87.1,NTBT +GARD:0020140,Orphanet,178025,Exact +GARD:0020140,ICD-10,E23.0,NTBT +GARD:0020141,Orphanet,178040,Exact +GARD:0020141,ICD-11,5A92,Exact +GARD:0020141,ICD-10,E30.1,Exact +GARD:0020142,Orphanet,178045,Exact +GARD:0020142,ICD-11,5A00.03,Exact +GARD:0020143,Orphanet,178148,Exact +GARD:0020143,UMLS,C1843691,Exact +GARD:0020143,ICD-10,G71.2,NTBT +GARD:0020144,Orphanet,178311,Exact +GARD:0020144,UMLS,C0020499,Exact +GARD:0020144,ICD-10,M85.8,NTBT +GARD:0020144,SNOMED-CT,766711009,NA +GARD:0020145,Orphanet,178315,Exact +GARD:0020145,ICD-10,C49.9,NTBT +GARD:0020145,SNOMED-CT,716648006,NA +GARD:0020146,Orphanet,178320,Exact +GARD:0020146,MedDRA,10069351,Exact +GARD:0020146,MeSH,D055371,Exact +GARD:0020146,UMLS,C0242488,Exact +GARD:0020146,SNOMED-CT,315345002,NA +GARD:0020147,Orphanet,178377,Exact +GARD:0020147,ICD-10,Q75.8,NTBT +GARD:0020147,SNOMED-CT,722117000,NA +GARD:0020148,Orphanet,178396,Exact +GARD:0020148,ICD-10,D68.8,NTBT +GARD:0020148,SNOMED-CT,782909004,NA +GARD:0020149,SNOMED-CT,398530003,NA +GARD:0020149,Orphanet,178475,Exact +GARD:0020149,ICD-10,A05.1,NTBT +GARD:0020149,UMLS,C1306794,Exact +GARD:0020150,Orphanet,178478,Exact +GARD:0020150,UMLS,C0238027,Exact +GARD:0020150,ICD-10,A05.1,NTBT +GARD:0020150,SNOMED-CT,414488002,NA +GARD:0020151,Orphanet,178481,Exact +GARD:0020151,ICD-10,A05.1,NTBT +GARD:0020151,UMLS,C1443901,Exact +GARD:0020151,SNOMED-CT,409563004,NA +GARD:0020152,Orphanet,178487,Exact +GARD:0020152,ICD-10,A05.1,NTBT +GARD:0020153,SNOMED-CT,312898002,NA +GARD:0020153,Orphanet,178493,Exact +GARD:0020153,ICD-10,H35.3,NTBT +GARD:0020153,UMLS,C0730271,Exact +GARD:0020154,Orphanet,178512,Exact +GARD:0020154,ICD-10,C84.0,NTBT +GARD:0020154,UMLS,C1627767,Exact +GARD:0020154,SNOMED-CT,404109006,NA +GARD:0020155,Orphanet,178517,Exact +GARD:0020155,UMLS,C1276140,Exact +GARD:0020155,ICD-10,C84.0,NTBT +GARD:0020155,MeSH,D056267,Exact +GARD:0020155,SNOMED-CT,404120006,NA +GARD:0020156,Orphanet,178522,Exact +GARD:0020156,ICD-10,C84.8,NTBT +GARD:0020157,Orphanet,178528,Exact +GARD:0020157,ICD-10,C84.5,NTBT +GARD:0020157,SNOMED-CT,765136002,NA +GARD:0020158,SNOMED-CT,733627006,NA +GARD:0020158,Orphanet,178533,Exact +GARD:0020158,ICD-10,C84.4,NTBT +GARD:0020159,SNOMED-CT,404140004,NA +GARD:0020159,Orphanet,178536,Exact +GARD:0020159,ICD-10,C83.0,NTBT +GARD:0020159,ICD-11,2A85.2,Exact +GARD:0020159,UMLS,C1275321,Exact +GARD:0020159,MeSH,D018442,Exact +GARD:0020160,Orphanet,178544,Exact +GARD:0020160,ICD-10,C83.3,NTBT +GARD:0020160,ICD-11,2A81.A,Exact +GARD:0020161,Orphanet,178548,Exact +GARD:0020162,Orphanet,178551,Exact +GARD:0020163,Orphanet,178554,Exact +GARD:0020164,Orphanet,178557,Exact +GARD:0020165,SNOMED-CT,402881008,NA +GARD:0020165,Orphanet,178563,Exact +GARD:0020165,UMLS,C1274310,Exact +GARD:0020166,Orphanet,178566,Exact +GARD:0020166,ICD-10,C84.0,NTBT +GARD:0020167,Orphanet,178996,Exact +GARD:0020167,ICD-11,4B00.01,Exact +GARD:0020168,Orphanet,179006,Exact +GARD:0020169,Orphanet,179490,Exact +GARD:0020169,ICD-10,E66.8,NTBT +GARD:0020170,Orphanet,180062,Exact +GARD:0020171,Orphanet,180065,Exact +GARD:0020172,Orphanet,180068,Exact +GARD:0020172,ICD-10,Q51.8,NTBT +GARD:0020173,Orphanet,180071,Exact +GARD:0020173,ICD-10,Q51.4,Exact +GARD:0020174,SNOMED-CT,1372004,NA +GARD:0020174,Orphanet,180074,Exact +GARD:0020174,ICD-10,Q51.4,NTBT +GARD:0020174,ICD-11,LB44.2,Exact +GARD:0020175,Orphanet,180079,Exact +GARD:0020175,SNOMED-CT,770591002,NA +GARD:0020175,ICD-10,Q51.4,NTBT +GARD:0020176,Orphanet,180086,Exact +GARD:0020176,MedDRA,10012770,Exact +GARD:0020176,SNOMED-CT,15545001,NA +GARD:0020176,UMLS,C0266393,Exact +GARD:0020176,ICD-10,Q51.1,Exact +GARD:0020176,ICD-11,LB44.3,NTBT +GARD:0020177,Orphanet,180106,Exact +GARD:0020177,ICD-10,Q51.1,NTBT +GARD:0020178,Orphanet,180111,Exact +GARD:0020178,ICD-10,Q51.1,NTBT +GARD:0020179,Orphanet,180114,Exact +GARD:0020179,ICD-10,Q51.3,NTBT +GARD:0020180,SNOMED-CT,22504001,NA +GARD:0020180,Orphanet,180122,Exact +GARD:0020180,MedDRA,10062606,Exact +GARD:0020180,ICD-11,LB44.4,Exact +GARD:0020180,UMLS,C0152240,Exact +GARD:0020180,ICD-10,Q51.2,NTBT +GARD:0020181,Orphanet,180126,Exact +GARD:0020181,ICD-10,Q51.2,NTBT +GARD:0020182,Orphanet,180129,Exact +GARD:0020182,ICD-10,Q51.2,NTBT +GARD:0020182,SNOMED-CT,5364006,NA +GARD:0020183,Orphanet,180134,Exact +GARD:0020183,ICD-10,Q51.3,Exact +GARD:0020183,UMLS,C0266387,Exact +GARD:0020183,ICD-11,LB44.3,Exact +GARD:0020183,MedDRA,10004550,Exact +GARD:0020183,SNOMED-CT,31401003,NA +GARD:0020184,Orphanet,180139,Exact +GARD:0020184,ICD-11,LB44.1,Exact +GARD:0020184,UMLS,C0266399,Exact +GARD:0020184,ICD-10,Q51.8,NTBT +GARD:0020184,MedDRA,10063146,Exact +GARD:0020184,SNOMED-CT,35850006,NA +GARD:0020185,Orphanet,180142,Exact +GARD:0020185,SNOMED-CT,818949005,NA +GARD:0020185,ICD-10,Q51.0,Exact +GARD:0020185,ICD-11,LB44.0,Exact +GARD:0020186,Orphanet,180145,Exact +GARD:0020186,ICD-10,Q51.5,Exact +GARD:0020186,ICD-11,LB43.1,Exact +GARD:0020186,SNOMED-CT,783095007,NA +GARD:0020187,Orphanet,180148,Exact +GARD:0020188,Orphanet,180151,Exact +GARD:0020189,Orphanet,180154,Exact +GARD:0020189,UMLS,C0266411,Exact +GARD:0020189,ICD-10,Q52.1,NTBT +GARD:0020189,SNOMED-CT,47054003,NA +GARD:0020190,Orphanet,180157,Exact +GARD:0020190,ICD-10,Q52.1,NTBT +GARD:0020191,Orphanet,180160,Exact +GARD:0020191,ICD-10,Q52.1,NTBT +GARD:0020192,Orphanet,180163,Exact +GARD:0020192,UMLS,C0266008,Exact +GARD:0020193,Orphanet,180170,Exact +GARD:0020194,Orphanet,180173,Exact +GARD:0020195,Orphanet,180182,Exact +GARD:0020195,UMLS,C0266010,Exact +GARD:0020195,ICD-10,Q83.1,Exact +GARD:0020195,ICD-11,LB62,Exact +GARD:0020195,MedDRA,10049786,Exact +GARD:0020195,SNOMED-CT,18166000,NA +GARD:0020196,Orphanet,180193,Exact +GARD:0020197,Orphanet,180199,Exact +GARD:0020198,Orphanet,180202,Exact +GARD:0020199,Orphanet,180205,Exact +GARD:0020200,Orphanet,180208,Exact +GARD:0020201,Orphanet,180220,Exact +GARD:0020202,Orphanet,180234,Exact +GARD:0020202,UMLS,C0334524,Exact +GARD:0020202,ICD-10,C80.9,NTBT +GARD:0020202,SNOMED-CT,1156452003,NA +GARD:0020203,SNOMED-CT,92100009,NA +GARD:0020203,Orphanet,180237,Exact +GARD:0020203,MedDRA,10053865,Exact +GARD:0020203,UMLS,C0346190,Exact +GARD:0020203,ICD-10,D28.2,NTBT +GARD:0020204,SNOMED-CT,371987000,NA +GARD:0020204,Orphanet,180242,Exact +GARD:0020204,MedDRA,10025915,Exact +GARD:0020204,ICD-11,2C74,Exact +GARD:0020204,UMLS,C0238122,Exact +GARD:0020204,ICD-10,C57.0,Exact +GARD:0020204,UMLS,C0153579,Exact +GARD:0020205,Orphanet,180250,Exact +GARD:0020205,UMLS,C1458155,Exact +GARD:0020206,Orphanet,180267,Exact +GARD:0020206,ICD-10,D24,NTBT +GARD:0020206,SNOMED-CT,254846003,NA +GARD:0020207,Orphanet,180303,Exact +GARD:0020208,Orphanet,180312,Exact +GARD:0020209,Orphanet,180766,Exact +GARD:0020211,Orphanet,180776,Exact +GARD:0020212,Orphanet,180779,Exact +GARD:0020213,Orphanet,180821,Exact +GARD:0020214,Orphanet,181368,Exact +GARD:0020214,UMLS,C3714619,Exact +GARD:0020214,ICD-11,5A44,NTBT +GARD:0020215,Orphanet,181371,Exact +GARD:0020215,UMLS,C0011854,Exact +GARD:0020216,Orphanet,181376,Exact +GARD:0020216,UMLS,C0011860,Exact +GARD:0020217,Orphanet,181381,Exact +GARD:0020218,Orphanet,181384,Exact +GARD:0020219,Orphanet,181387,Exact +GARD:0020219,UMLS,C0271623,Exact +GARD:0020220,Orphanet,181390,Exact +GARD:0020221,Orphanet,181396,Exact +GARD:0020221,UMLS,C0020676,Exact +GARD:0020222,Orphanet,181399,Exact +GARD:0020222,ICD-10,E05.0,BTNT +GARD:0020222,ICD-10,E05.5,BTNT +GARD:0020222,ICD-10,E05.8,BTNT +GARD:0020222,ICD-10,E05.9,BTNT +GARD:0020222,ICD-10,E05.3,BTNT +GARD:0020222,UMLS,C0020550,Exact +GARD:0020222,ICD-10,E05.4,BTNT +GARD:0020222,ICD-10,E05.2,BTNT +GARD:0020222,ICD-10,E05.1,BTNT +GARD:0020223,Orphanet,181402,Exact +GARD:0020224,Orphanet,181405,Exact +GARD:0020224,UMLS,C0020626,Exact +GARD:0020224,ICD-10,E20.0,BTNT +GARD:0020224,ICD-10,E20.1,BTNT +GARD:0020224,ICD-10,E20.9,BTNT +GARD:0020224,ICD-10,E20.8,BTNT +GARD:0020225,Orphanet,181408,Exact +GARD:0020225,ICD-10,E21.0,BTNT +GARD:0020225,ICD-10,E21.2,BTNT +GARD:0020225,UMLS,C0020502,Exact +GARD:0020225,ICD-10,E21.1,BTNT +GARD:0020225,ICD-10,E21.3,BTNT +GARD:0020226,Orphanet,181412,Exact +GARD:0020226,MeSH,D047808,Exact +GARD:0020226,MedDRA,10061630,Exact +GARD:0020226,UMLS,C0302280,Exact +GARD:0020226,UMLS,C0701163,Exact +GARD:0020227,Orphanet,181415,Exact +GARD:0020227,ICD-10,E26.0,NTBT +GARD:0020227,UMLS,C1384514,Exact +GARD:0020228,Orphanet,181419,Exact +GARD:0020228,ICD-10,E27.4,NTBT +GARD:0020228,UMLS,C0020595,Exact +GARD:0020229,Orphanet,181422,Exact +GARD:0020229,UMLS,C0020473,Exact +GARD:0020230,Orphanet,181428,Exact +GARD:0020230,ICD-10,E78.4,NTBT +GARD:0020230,UMLS,C0342883,Exact +GARD:0020230,SNOMED-CT,238080004,NA +GARD:0020231,Orphanet,181431,Exact +GARD:0020231,ICD-10,E78.6,NTBT +GARD:0020232,Orphanet,181437,Exact +GARD:0020233,Orphanet,181441,Exact +GARD:0020234,Orphanet,182040,Exact +GARD:0020234,ICD-10,D61.0,BTNT +GARD:0020234,ICD-10,D61.3,BTNT +GARD:0020234,ICD-10,D61.9,BTNT +GARD:0020234,ICD-10,D61.1,BTNT +GARD:0020234,ICD-10,D61.2,BTNT +GARD:0020234,ICD-10,D61.8,BTNT +GARD:0020235,Orphanet,182043,Exact +GARD:0020236,Orphanet,182047,Exact +GARD:0020236,ICD-10,D59.5,BTNT +GARD:0020236,ICD-10,D59.6,BTNT +GARD:0020236,ICD-10,D59.0,BTNT +GARD:0020236,ICD-10,D59.2,BTNT +GARD:0020236,ICD-10,D59.8,BTNT +GARD:0020236,ICD-10,D59.4,BTNT +GARD:0020236,ICD-10,D59.9,BTNT +GARD:0020236,UMLS,C0002879,Exact +GARD:0020236,ICD-10,D59.1,BTNT +GARD:0020236,ICD-10,D59.3,BTNT +GARD:0020237,Orphanet,182054,Exact +GARD:0020238,Orphanet,182061,Exact +GARD:0020239,Orphanet,182064,Exact +GARD:0020240,Orphanet,182070,Exact +GARD:0020240,UMLS,C0524851,Exact +GARD:0020241,Orphanet,182079,Exact +GARD:0020242,Orphanet,182083,Exact +GARD:0020243,Orphanet,182086,Exact +GARD:0020244,Orphanet,182095,Exact +GARD:0020244,SNOMED-CT,233703007,NA +GARD:0020244,UMLS,C0206062,Exact +GARD:0020244,MeSH,D017563,Exact +GARD:0020244,MedDRA,10022611,Exact +GARD:0020245,Orphanet,182098,Exact +GARD:0020245,UMLS,C0032273,Exact +GARD:0020245,MeSH,D011009,Exact +GARD:0020245,MedDRA,10035653,Exact +GARD:0020245,SNOMED-CT,40122008,NA +GARD:0020246,Orphanet,182101,Exact +GARD:0020246,ICD-10,J82,NTBT +GARD:0020247,Orphanet,182104,Exact +GARD:0020248,Orphanet,182108,Exact +GARD:0020249,Orphanet,182111,Exact +GARD:0020250,Orphanet,182114,Exact +GARD:0020251,Orphanet,182117,Exact +GARD:0020252,Orphanet,182121,Exact +GARD:0020253,Orphanet,182124,Exact +GARD:0020254,Orphanet,182130,Exact +GARD:0020254,MedDRA,10061121,Exact +GARD:0020254,UMLS,C0014132,Exact +GARD:0020254,SNOMED-CT,387922007,NA +GARD:0020255,Orphanet,182222,Exact +GARD:0020256,Orphanet,182228,Exact +GARD:0020257,Orphanet,182231,Exact +GARD:0020258,Orphanet,182734,Exact +GARD:0020259,Orphanet,183422,Exact +GARD:0020260,Orphanet,183426,Exact +GARD:0020261,Orphanet,183435,Exact +GARD:0020261,UMLS,C0856562,Exact +GARD:0020261,MedDRA,10021202,Exact +GARD:0020262,Orphanet,183438,Exact +GARD:0020263,Orphanet,183441,Exact +GARD:0020264,Orphanet,183444,Exact +GARD:0020265,Orphanet,183447,Exact +GARD:0020266,Orphanet,183450,Exact +GARD:0020267,Orphanet,183454,Exact +GARD:0020268,Orphanet,183460,Exact +GARD:0020269,Orphanet,183463,Exact +GARD:0020270,Orphanet,183466,Exact +GARD:0020271,Orphanet,183469,Exact +GARD:0020272,Orphanet,183472,Exact +GARD:0020273,Orphanet,183478,Exact +GARD:0020274,Orphanet,183481,Exact +GARD:0020275,Orphanet,183484,Exact +GARD:0020276,Orphanet,183487,Exact +GARD:0020277,Orphanet,183490,Exact +GARD:0020278,Orphanet,183494,Exact +GARD:0020279,Orphanet,183497,Exact +GARD:0020280,Orphanet,183500,Exact +GARD:0020281,Orphanet,183503,Exact +GARD:0020282,Orphanet,183506,Exact +GARD:0020283,Orphanet,183509,Exact +GARD:0020284,Orphanet,183512,Exact +GARD:0020285,Orphanet,183515,Exact +GARD:0020286,Orphanet,183518,Exact +GARD:0020286,UMLS,C0004138,Exact +GARD:0020287,Orphanet,183521,Exact +GARD:0020288,Orphanet,183524,Exact +GARD:0020289,Orphanet,183527,Exact +GARD:0020290,Orphanet,183530,Exact +GARD:0020291,Orphanet,183533,Exact +GARD:0020292,Orphanet,183536,Exact +GARD:0020293,Orphanet,183539,Exact +GARD:0020294,Orphanet,183542,Exact +GARD:0020295,Orphanet,183545,Exact +GARD:0020296,Orphanet,183548,Exact +GARD:0020297,Orphanet,183554,Exact +GARD:0020298,Orphanet,183557,Exact +GARD:0020299,Orphanet,183570,Exact +GARD:0020300,Orphanet,183573,Exact +GARD:0020301,Orphanet,183576,Exact +GARD:0020302,Orphanet,183580,Exact +GARD:0020303,Orphanet,183583,Exact +GARD:0020304,Orphanet,183586,Exact +GARD:0020305,Orphanet,183589,Exact +GARD:0020306,Orphanet,183592,Exact +GARD:0020307,Orphanet,183595,Exact +GARD:0020308,Orphanet,183607,Exact +GARD:0020309,Orphanet,183616,Exact +GARD:0020310,Orphanet,183619,Exact +GARD:0020311,Orphanet,183622,Exact +GARD:0020312,Orphanet,183625,Exact +GARD:0020313,Orphanet,183628,Exact +GARD:0020314,Orphanet,183631,Exact +GARD:0020315,Orphanet,183634,Exact +GARD:0020316,Orphanet,183637,Exact +GARD:0020317,Orphanet,183643,Exact +GARD:0020318,Orphanet,183651,Exact +GARD:0020319,Orphanet,183654,Exact +GARD:0020320,Orphanet,183669,Exact +GARD:0020320,MeSH,D000361,Exact +GARD:0020320,UMLS,C0001768,Exact +GARD:0020320,MedDRA,10001471,Exact +GARD:0020321,Orphanet,183681,Exact +GARD:0020322,Orphanet,183710,Exact +GARD:0020322,ICD-11,4A00.2,Exact +GARD:0020322,ICD-10,D84.8,NTBT +GARD:0020323,Orphanet,183731,Exact +GARD:0020324,Orphanet,183734,Exact +GARD:0020325,Orphanet,183757,Exact +GARD:0020326,Orphanet,183763,Exact +GARD:0020327,Orphanet,183770,Exact +GARD:0020328,Orphanet,199257,Exact +GARD:0020328,UMLS,C0406571,Exact +GARD:0020328,ICD-10,M72.8,NTBT +GARD:0020328,SNOMED-CT,238853007,NA +GARD:0020329,Orphanet,199260,Exact +GARD:0020329,ICD-11,EE61,NTBT +GARD:0020329,UMLS,C0553647,Exact +GARD:0020329,ICD-10,M72.8,NTBT +GARD:0020329,SNOMED-CT,238862009,NA +GARD:0020330,Orphanet,199293,Exact +GARD:0020330,ICD-10,Q40.2,NTBT +GARD:0020330,UMLS,C0266150,Exact +GARD:0020330,SNOMED-CT,83714006,NA +GARD:0020331,Orphanet,199299,Exact +GARD:0020331,ICD-10,E23.6,NTBT +GARD:0020331,SNOMED-CT,773989002,NA +GARD:0020332,Orphanet,199310,Exact +GARD:0020332,ICD-10,Q99.0,Exact +GARD:0020332,ICD-11,LD56,Exact +GARD:0020333,SNOMED-CT,1847009,NA +GARD:0020333,Orphanet,199323,Exact +GARD:0020333,ICD-10,H44.0,BTNT +GARD:0020333,ICD-10,H44.1,BTNT +GARD:0020333,MeSH,D009877,Exact +GARD:0020333,UMLS,C0014236,Exact +GARD:0020333,MedDRA,10014801,Exact +GARD:0020334,Orphanet,199326,Exact +GARD:0020334,SNOMED-CT,722008003,NA +GARD:0020334,ICD-10,E83.4,NTBT +GARD:0020335,Orphanet,199329,Exact +GARD:0020335,ICD-10,G71.2,NTBT +GARD:0020335,SNOMED-CT,725420009,NA +GARD:0020336,SNOMED-CT,231536004,NA +GARD:0020336,Orphanet,199627,Exact +GARD:0020336,ICD-11,6A02.Y,NTBT +GARD:0020336,ICD-10,F84.1,Exact +GARD:0020336,UMLS,C0338986,Exact +GARD:0020336,MedDRA,10003747,Exact +GARD:0020337,Orphanet,199630,Exact +GARD:0020337,ICD-10,Q04.3,NTBT +GARD:0020337,SNOMED-CT,766709000,NA +GARD:0020338,Orphanet,199633,Exact +GARD:0020338,UMLS,C0266449,Exact +GARD:0020339,Orphanet,199639,Exact +GARD:0020340,Orphanet,200037,Exact +GARD:0020340,ICD-11,8A02.2,Exact +GARD:0020341,Orphanet,202940,Exact +GARD:0020342,Orphanet,202948,Exact +GARD:0020343,SNOMED-CT,238030005,NA +GARD:0020343,Orphanet,206436,Exact +GARD:0020343,UMLS,C0751273,Exact +GARD:0020343,ICD-10,E75.2,NTBT +GARD:0020344,Orphanet,206443,Exact +GARD:0020344,ICD-10,E75.2,NTBT +GARD:0020344,UMLS,C0268252,Exact +GARD:0020344,SNOMED-CT,41142009,NA +GARD:0020345,Orphanet,206448,Exact +GARD:0020345,UMLS,C0268252,Exact +GARD:0020345,ICD-10,E75.2,NTBT +GARD:0020346,Orphanet,206470,Exact +GARD:0020346,ICD-10,D27,NTBT +GARD:0020347,SNOMED-CT,770686005,NA +GARD:0020347,Orphanet,206489,Exact +GARD:0020347,ICD-10,C52,NTBT +GARD:0020348,SNOMED-CT,766759009,NA +GARD:0020348,Orphanet,206492,Exact +GARD:0020348,ICD-10,C52,NTBT +GARD:0020349,Orphanet,206538,Exact +GARD:0020349,ICD-10,C56,NTBT +GARD:0020350,Orphanet,206546,Exact +GARD:0020350,ICD-10,G71.0,NTBT +GARD:0020350,SNOMED-CT,765197008,NA +GARD:0020351,SNOMED-CT,715863001,NA +GARD:0020351,Orphanet,206569,Exact +GARD:0020351,ICD-10,G72.4,NTBT +GARD:0020351,UMLS,C3267047,Exact +GARD:0020352,Orphanet,206572,Exact +GARD:0020352,ICD-10,M33.2,NTBT +GARD:0020353,Orphanet,206575,Exact +GARD:0020353,ICD-10,G70.8,NTBT +GARD:0020353,SNOMED-CT,770596007,NA +GARD:0020354,SNOMED-CT,766752000,NA +GARD:0020354,Orphanet,206586,Exact +GARD:0020354,ICD-10,G63.1,ND (not yet decided/unable to decide) +GARD:0020354,ICD-10,C96.7,ND (not yet decided/unable to decide) +GARD:0020355,Orphanet,206594,Exact +GARD:0020355,ICD-10,G61.8,NTBT +GARD:0020355,ICD-11,8C01.2,Exact +GARD:0020355,SNOMED-CT,277189006,NA +GARD:0020356,Orphanet,206599,Exact +GARD:0020356,ICD-10,R74.8,NTBT +GARD:0020356,SNOMED-CT,773990006,NA +GARD:0020357,SNOMED-CT,180234006,NA +GARD:0020357,Orphanet,206613,Exact +GARD:0020357,UMLS,C1278821,Exact +GARD:0020358,Orphanet,206634,Exact +GARD:0020359,Orphanet,206638,Exact +GARD:0020360,SNOMED-CT,193225000,NA +GARD:0020360,Orphanet,206644,Exact +GARD:0020360,ICD-10,G71.0,NTBT +GARD:0020361,Orphanet,206650,Exact +GARD:0020361,ICD-10,G71.0,NTBT +GARD:0020362,Orphanet,206653,Exact +GARD:0020362,ICD-10,G71.0,NTBT +GARD:0020363,Orphanet,206656,Exact +GARD:0020364,Orphanet,206662,Exact +GARD:0020364,ICD-10,G71.8,NTBT +GARD:0020365,Orphanet,206701,Exact +GARD:0020365,ICD-10,G12.2,NTBT +GARD:0020365,UMLS,C0393547,Exact +GARD:0020366,Orphanet,206704,Exact +GARD:0020366,ICD-10,G12.2,NTBT +GARD:0020367,Orphanet,206707,Exact +GARD:0020367,ICD-10,G12.2,NTBT +GARD:0020368,Orphanet,206710,Exact +GARD:0020368,ICD-10,G12.2,NTBT +GARD:0020369,Orphanet,206953,Exact +GARD:0020369,UMLS,C0410214,Exact +GARD:0020370,Orphanet,206959,Exact +GARD:0020370,ICD-10,E74.0,NTBT +GARD:0020371,Orphanet,206966,Exact +GARD:0020371,ICD-10,G71.3,NTBT +GARD:0020371,UMLS,C0162670,Exact +GARD:0020371,MeSH,D017240,Exact +GARD:0020371,MedDRA,10027710,Exact +GARD:0020372,Orphanet,206970,Exact +GARD:0020372,UMLS,C0553604,Exact +GARD:0020372,MedDRA,10028658,Exact +GARD:0020372,MeSH,D020967,Exact +GARD:0020372,ICD-10,G71.1,Exact +GARD:0020373,Orphanet,206973,Exact +GARD:0020373,UMLS,C0027127,Exact +GARD:0020373,ICD-10,G71.1,NTBT +GARD:0020374,SNOMED-CT,267607008,NA +GARD:0020374,Orphanet,206976,Exact +GARD:0020374,UMLS,C1279412,Exact +GARD:0020374,UMLS,C0030443,Exact +GARD:0020374,ICD-11,8C74.1,Exact +GARD:0020374,MedDRA,10016208,Exact +GARD:0020374,ICD-10,G72.3,Exact +GARD:0020374,MeSH,D010245,Exact +GARD:0020375,Orphanet,206982,Exact +GARD:0020375,UMLS,C0282606,Exact +GARD:0020376,Orphanet,206988,Exact +GARD:0020376,ICD-11,FB30,Exact +GARD:0020376,ICD-10,M60.0,Exact +GARD:0020377,Orphanet,206991,Exact +GARD:0020377,ICD-10,M60.0,NTBT +GARD:0020377,MedDRA,10051512,Exact +GARD:0020377,UMLS,C0150005,Exact +GARD:0020377,SNOMED-CT,240105009,NA +GARD:0020378,SNOMED-CT,30330001,NA +GARD:0020378,Orphanet,206994,Exact +GARD:0020378,ICD-10,M60.0,NTBT +GARD:0020379,Orphanet,206997,Exact +GARD:0020379,ICD-10,M60.0,NTBT +GARD:0020379,UMLS,C0263997,Exact +GARD:0020379,SNOMED-CT,60970005,NA +GARD:0020380,Orphanet,207000,Exact +GARD:0020380,SNOMED-CT,240111007,NA +GARD:0020380,ICD-10,M60.0,NTBT +GARD:0020380,UMLS,C0410251,Exact +GARD:0020381,Orphanet,207012,Exact +GARD:0020382,Orphanet,207018,Exact +GARD:0020383,Orphanet,207021,Exact +GARD:0020384,Orphanet,207025,Exact +GARD:0020385,Orphanet,207028,Exact +GARD:0020385,ICD-10,G60.2,Exact +GARD:0020386,Orphanet,207038,Exact +GARD:0020387,Orphanet,207046,Exact +GARD:0020388,Orphanet,207049,Exact +GARD:0020389,Orphanet,207052,Exact +GARD:0020389,UMLS,C2936331,Exact +GARD:0020390,Orphanet,207060,Exact +GARD:0020391,Orphanet,207063,Exact +GARD:0020392,Orphanet,207067,Exact +GARD:0020393,Orphanet,207070,Exact +GARD:0020394,Orphanet,207078,Exact +GARD:0020395,Orphanet,207090,Exact +GARD:0020396,Orphanet,207094,Exact +GARD:0020397,Orphanet,207098,Exact +GARD:0020398,Orphanet,207101,Exact +GARD:0020399,Orphanet,207104,Exact +GARD:0020400,Orphanet,207107,Exact +GARD:0020401,Orphanet,207110,Exact +GARD:0020402,Orphanet,207113,Exact +GARD:0020403,Orphanet,207119,Exact +GARD:0020404,Orphanet,207122,Exact +GARD:0020405,Orphanet,208508,Exact +GARD:0020406,Orphanet,208524,Exact +GARD:0020406,ICD-10,L10.8,NTBT +GARD:0020406,SNOMED-CT,771145006,NA +GARD:0020407,Orphanet,208593,Exact +GARD:0020408,Orphanet,208596,Exact +GARD:0020409,Orphanet,208974,Exact +GARD:0020410,Orphanet,208978,Exact +GARD:0020410,ICD-10,G61.8,NTBT +GARD:0020411,Orphanet,208981,Exact +GARD:0020411,ICD-10,G61.8,NTBT +GARD:0020412,Orphanet,208984,Exact +GARD:0020413,Orphanet,208989,Exact +GARD:0020414,Orphanet,208999,Exact +GARD:0020415,Orphanet,209004,Exact +GARD:0020415,ICD-10,G61.8,NTBT +GARD:0020416,Orphanet,209007,Exact +GARD:0020417,Orphanet,209010,Exact +GARD:0020418,Orphanet,209013,Exact +GARD:0020419,Orphanet,209016,Exact +GARD:0020420,Orphanet,209019,Exact +GARD:0020421,Orphanet,209024,Exact +GARD:0020422,Orphanet,209027,Exact +GARD:0020423,Orphanet,209030,Exact +GARD:0020424,Orphanet,209033,Exact +GARD:0020425,Orphanet,209038,Exact +GARD:0020426,Orphanet,209041,Exact +GARD:0020427,Orphanet,209044,Exact +GARD:0020428,Orphanet,209047,Exact +GARD:0020429,Orphanet,209050,Exact +GARD:0020430,Orphanet,209053,Exact +GARD:0020431,Orphanet,209056,Exact +GARD:0020432,Orphanet,209059,Exact +GARD:0020433,Orphanet,209182,Exact +GARD:0020434,Orphanet,209185,Exact +GARD:0020435,Orphanet,209188,Exact +GARD:0020436,Orphanet,209193,Exact +GARD:0020437,Orphanet,209196,Exact +GARD:0020438,Orphanet,209199,Exact +GARD:0020439,Orphanet,209203,Exact +GARD:0020440,Orphanet,209224,Exact +GARD:0020441,SNOMED-CT,773726000,NA +GARD:0020441,Orphanet,209902,Exact +GARD:0020441,ICD-10,E78.0,NTBT +GARD:0020442,Orphanet,209956,Exact +GARD:0020442,SNOMED-CT,778049009,NA +GARD:0020443,Orphanet,209959,Exact +GARD:0020443,UMLS,C0339320,Exact +GARD:0020443,ICD-10,H20.2,Exact +GARD:0020443,UMLS,C0152137,Exact +GARD:0020443,ICD-11,9A96.Y,NTBT +GARD:0020444,Orphanet,209964,Exact +GARD:0020444,ICD-10,K62.6,NTBT +GARD:0020444,SNOMED-CT,716685003,NA +GARD:0020445,SNOMED-CT,771304005,NA +GARD:0020445,Orphanet,209973,Exact +GARD:0020445,ICD-10,G81.9,NTBT +GARD:0020446,Orphanet,209978,Exact +GARD:0020446,SNOMED-CT,404689008,NA +GARD:0020447,Orphanet,209989,Exact +GARD:0020447,ICD-10,C67.7,BTNT +GARD:0020447,ICD-10,C67.0,BTNT +GARD:0020447,ICD-10,C67.3,BTNT +GARD:0020447,ICD-10,C67.8,BTNT +GARD:0020447,ICD-10,C67.1,BTNT +GARD:0020447,ICD-10,C67.6,BTNT +GARD:0020447,ICD-10,C67.5,BTNT +GARD:0020447,ICD-10,C67.9,BTNT +GARD:0020447,ICD-10,C67.2,BTNT +GARD:0020447,ICD-10,C67.4,BTNT +GARD:0020448,Orphanet,210133,Exact +GARD:0020448,ICD-10,Q82.8,NTBT +GARD:0020448,SNOMED-CT,773700005,NA +GARD:0020449,SNOMED-CT,723829000,NA +GARD:0020449,Orphanet,210136,Exact +GARD:0020450,SNOMED-CT,763215008,NA +GARD:0020450,Orphanet,210576,Exact +GARD:0020450,ICD-10,K07.6,NTBT +GARD:0020451,Orphanet,210581,Exact +GARD:0020452,SNOMED-CT,403967000,NA +GARD:0020452,Orphanet,210584,Exact +GARD:0020452,UMLS,C1304508,Exact +GARD:0020452,ICD-10,D18.0,NTBT +GARD:0020453,Orphanet,210589,Exact +GARD:0020454,Orphanet,211037,Exact +GARD:0020454,ICD-10,G12.1,NTBT +GARD:0020455,Orphanet,211047,Exact +GARD:0020456,Orphanet,211053,Exact +GARD:0020457,Orphanet,211062,Exact +GARD:0020457,ICD-10,G11.8,NTBT +GARD:0020458,Orphanet,211237,Exact +GARD:0020458,UMLS,C0282607,Exact +GARD:0020459,Orphanet,211240,Exact +GARD:0020460,Orphanet,211243,Exact +GARD:0020460,UMLS,C0158570,Exact +GARD:0020460,UMLS,C1961121,Exact +GARD:0020461,Orphanet,211247,Exact +GARD:0020461,UMLS,C0340803,Exact +GARD:0020462,Orphanet,211252,Exact +GARD:0020462,MedDRA,10025532,Exact +GARD:0020462,UMLS,C2937220,Exact +GARD:0020462,ICD-10,Q27.8,NTBT +GARD:0020462,UMLS,C0265950,Exact +GARD:0020463,Orphanet,211255,Exact +GARD:0020464,Orphanet,211266,Exact +GARD:0020464,MedDRA,10003193,Exact +GARD:0020464,MeSH,D001165,Exact +GARD:0020464,UMLS,C0334533,Exact +GARD:0020464,ICD-10,Q27.3,Exact +GARD:0020464,UMLS,C0003857,Exact +GARD:0020465,Orphanet,211277,Exact +GARD:0020466,Orphanet,213504,Exact +GARD:0020466,ICD-10,C56,NTBT +GARD:0020466,MedDRA,10051938,Exact +GARD:0020466,UMLS,C0948216,Exact +GARD:0020467,Orphanet,213517,Exact +GARD:0020467,ICD-10,C56,NTBT +GARD:0020468,Orphanet,213524,Exact +GARD:0020468,ICD-10,C56,NTBT +GARD:0020468,SNOMED-CT,771080008,NA +GARD:0020469,Orphanet,213564,Exact +GARD:0020469,UMLS,C0153567,Exact +GARD:0020470,Orphanet,213569,Exact +GARD:0020470,UMLS,C0153574,Exact +GARD:0020471,Orphanet,213574,Exact +GARD:0020471,ICD-10,C54.1,NTBT +GARD:0020472,Orphanet,213589,Exact +GARD:0020472,ICD-10,C54.0,BTNT +GARD:0020472,ICD-10,C54.1,BTNT +GARD:0020472,ICD-10,C54.8,BTNT +GARD:0020472,ICD-10,C54.2,BTNT +GARD:0020472,ICD-10,C54.3,BTNT +GARD:0020473,SNOMED-CT,765740002,NA +GARD:0020473,Orphanet,213600,Exact +GARD:0020473,ICD-10,C54.2,NTBT +GARD:0020474,Orphanet,213605,Exact +GARD:0020474,ICD-10,C54.3,BTNT +GARD:0020474,ICD-10,C54.8,BTNT +GARD:0020474,ICD-10,C54.1,BTNT +GARD:0020474,ICD-10,C54.2,BTNT +GARD:0020474,ICD-10,C54.0,BTNT +GARD:0020474,SNOMED-CT,778066006,NA +GARD:0020475,Orphanet,213615,Exact +GARD:0020475,SNOMED-CT,763409006,NA +GARD:0020475,ICD-10,C54.2,NTBT +GARD:0020476,Orphanet,213620,Exact +GARD:0020476,ICD-10,C54.2,NTBT +GARD:0020476,UMLS,C0338113,Exact +GARD:0020476,MedDRA,10039497,Exact +GARD:0020477,Orphanet,213625,Exact +GARD:0020477,UMLS,C0280631,Exact +GARD:0020477,ICD-10,C54.2,NTBT +GARD:0020477,SNOMED-CT,770559003,NA +GARD:0020478,Orphanet,213630,Exact +GARD:0020478,ICD-10,C54.2,BTNT +GARD:0020478,SNOMED-CT,766247009,NA +GARD:0020478,ICD-10,C54.8,BTNT +GARD:0020478,ICD-10,C54.3,BTNT +GARD:0020478,ICD-10,C54.1,BTNT +GARD:0020478,ICD-10,C54.0,BTNT +GARD:0020479,SNOMED-CT,764737005,NA +GARD:0020479,Orphanet,213716,Exact +GARD:0020479,ICD-10,C54.1,NTBT +GARD:0020480,Orphanet,213721,Exact +GARD:0020480,ICD-10,C50,NTBT +GARD:0020480,SNOMED-CT,766758001,NA +GARD:0020481,Orphanet,213726,Exact +GARD:0020481,ICD-10,C54.1,NTBT +GARD:0020482,Orphanet,213731,Exact +GARD:0020482,ICD-10,C54.1,BTNT +GARD:0020482,ICD-10,C54.3,BTNT +GARD:0020482,ICD-10,C54.0,BTNT +GARD:0020482,ICD-10,C54.2,BTNT +GARD:0020482,ICD-10,C54.8,BTNT +GARD:0020482,SNOMED-CT,773774000,NA +GARD:0020483,Orphanet,213736,Exact +GARD:0020483,SNOMED-CT,783006001,NA +GARD:0020483,ICD-10,C54.3,BTNT +GARD:0020483,ICD-10,C54.8,BTNT +GARD:0020483,ICD-10,C54.1,BTNT +GARD:0020483,ICD-10,C54.2,BTNT +GARD:0020483,ICD-10,C54.0,BTNT +GARD:0020484,Orphanet,213746,Exact +GARD:0020484,ICD-10,C54.9,NTBT +GARD:0020484,SNOMED-CT,785807007,NA +GARD:0020485,Orphanet,213751,Exact +GARD:0020485,ICD-10,C54.0,BTNT +GARD:0020485,SNOMED-CT,773284000,NA +GARD:0020485,ICD-10,C54.3,BTNT +GARD:0020485,ICD-10,C54.8,BTNT +GARD:0020485,ICD-10,C54.2,BTNT +GARD:0020485,ICD-10,C54.1,BTNT +GARD:0020486,Orphanet,213761,Exact +GARD:0020486,UMLS,C0007847,Exact +GARD:0020486,UMLS,C0302592,Exact +GARD:0020487,Orphanet,213767,Exact +GARD:0020487,ICD-10,C53.8,BTNT +GARD:0020487,UMLS,C0279671,Exact +GARD:0020487,ICD-10,C53.1,BTNT +GARD:0020487,ICD-10,C53.0,BTNT +GARD:0020487,SNOMED-CT,254886006,NA +GARD:0020488,Orphanet,213772,Exact +GARD:0020488,UMLS,C0279672,Exact +GARD:0020488,ICD-10,C53.8,BTNT +GARD:0020488,ICD-10,C53.0,BTNT +GARD:0020488,ICD-10,C53.1,BTNT +GARD:0020488,SNOMED-CT,254887002,NA +GARD:0020489,SNOMED-CT,773775004,NA +GARD:0020489,Orphanet,213777,Exact +GARD:0020489,ICD-10,C53.1,BTNT +GARD:0020489,ICD-10,C53.8,BTNT +GARD:0020489,ICD-10,C53.0,BTNT +GARD:0020490,Orphanet,213782,Exact +GARD:0020490,ICD-10,C53.8,BTNT +GARD:0020490,ICD-10,C53.0,BTNT +GARD:0020490,ICD-10,C53.1,BTNT +GARD:0020491,SNOMED-CT,764951002,NA +GARD:0020491,Orphanet,213787,Exact +GARD:0020491,ICD-10,C53,NTBT +GARD:0020492,Orphanet,213792,Exact +GARD:0020492,ICD-10,C53.0,BTNT +GARD:0020492,SNOMED-CT,764847000,NA +GARD:0020492,ICD-10,C53.1,BTNT +GARD:0020492,ICD-10,C53.8,BTNT +GARD:0020493,Orphanet,213797,Exact +GARD:0020493,ICD-10,C53.1,BTNT +GARD:0020493,ICD-10,C53.0,BTNT +GARD:0020493,ICD-10,C53.8,BTNT +GARD:0020494,Orphanet,213802,Exact +GARD:0020494,ICD-10,C53.8,BTNT +GARD:0020494,ICD-10,C53.1,BTNT +GARD:0020494,ICD-10,C53.0,BTNT +GARD:0020494,SNOMED-CT,763408003,NA +GARD:0020495,Orphanet,213807,Exact +GARD:0020495,ICD-10,C53.0,BTNT +GARD:0020495,ICD-10,C53.1,BTNT +GARD:0020495,ICD-10,C53.8,BTNT +GARD:0020495,SNOMED-CT,763771009,NA +GARD:0020496,SNOMED-CT,766248004,NA +GARD:0020496,Orphanet,213812,Exact +GARD:0020496,ICD-10,C53.1,BTNT +GARD:0020496,ICD-10,C53.8,BTNT +GARD:0020496,ICD-10,C53.0,BTNT +GARD:0020497,Orphanet,213817,Exact +GARD:0020497,ICD-10,C53.1,BTNT +GARD:0020497,ICD-10,C53.0,BTNT +GARD:0020497,ICD-10,C53.8,BTNT +GARD:0020498,SNOMED-CT,763064007,NA +GARD:0020498,Orphanet,213823,Exact +GARD:0020498,ICD-10,C53.8,BTNT +GARD:0020498,ICD-10,C53.1,BTNT +GARD:0020498,ICD-10,C53.0,BTNT +GARD:0020499,Orphanet,213828,Exact +GARD:0020499,ICD-10,C53.8,BTNT +GARD:0020499,ICD-10,C53.0,BTNT +GARD:0020499,ICD-10,C53.1,BTNT +GARD:0020499,SNOMED-CT,763063001,NA +GARD:0020500,SNOMED-CT,766930002,NA +GARD:0020500,Orphanet,213833,Exact +GARD:0020500,ICD-10,C53.8,BTNT +GARD:0020500,ICD-10,C53.1,BTNT +GARD:0020500,ICD-10,C53.0,BTNT +GARD:0020501,SNOMED-CT,773283006,NA +GARD:0020501,Orphanet,213837,Exact +GARD:0020501,ICD-10,C53.0,BTNT +GARD:0020501,ICD-10,C53.8,BTNT +GARD:0020501,ICD-10,C53.1,BTNT +GARD:0020502,Orphanet,216718,Exact +GARD:0020502,ICD-10,Q20.3,NTBT +GARD:0020503,Orphanet,216729,Exact +GARD:0020503,ICD-10,Q20.3,NTBT +GARD:0020504,Orphanet,216972,Exact +GARD:0020504,ICD-10,E75.2,NTBT +GARD:0020505,Orphanet,216975,Exact +GARD:0020505,ICD-10,E75.2,NTBT +GARD:0020506,Orphanet,216978,Exact +GARD:0020506,ICD-10,E75.2,NTBT +GARD:0020507,Orphanet,216981,Exact +GARD:0020507,ICD-10,E75.2,NTBT +GARD:0020508,Orphanet,216986,Exact +GARD:0020508,ICD-10,E75.2,NTBT +GARD:0020509,SNOMED-CT,32393008,NA +GARD:0020509,Orphanet,217064,Exact +GARD:0020509,ICD-10,T45.1,NTBT +GARD:0020510,Orphanet,217067,Exact +GARD:0020510,MeSH,D019449,Exact +GARD:0020510,UMLS,C0376620,Exact +GARD:0020510,MedDRA,10036463,Exact +GARD:0020510,SNOMED-CT,426508001,NA +GARD:0020511,Orphanet,217074,Exact +GARD:0020511,MedDRA,10033609,Exact +GARD:0020511,UMLS,C0346647,Exact +GARD:0020511,MeSH,D010190,Exact +GARD:0020511,UMLS,C0235974,Exact +GARD:0020511,MedDRA,10033604,Exact +GARD:0020512,Orphanet,217080,Exact +GARD:0020513,Orphanet,217253,Exact +GARD:0020513,ICD-10,G13.1,NTBT +GARD:0020513,SNOMED-CT,716684004,NA +GARD:0020514,Orphanet,217399,Exact +GARD:0020514,ICD-10,G60.8,NTBT +GARD:0020515,Orphanet,217454,Exact +GARD:0020515,UMLS,C2584620,Exact +GARD:0020515,ICD-10,D68.5,NTBT +GARD:0020516,Orphanet,217557,Exact +GARD:0020516,ICD-10,P22.8,NTBT +GARD:0020516,SNOMED-CT,707551007,NA +GARD:0020517,Orphanet,217560,Exact +GARD:0020517,ICD-11,CB04.7,Exact +GARD:0020517,UMLS,C3161105,Exact +GARD:0020517,SNOMED-CT,707435002,NA +GARD:0020518,Orphanet,217569,Exact +GARD:0020518,UMLS,C0007194,Exact +GARD:0020518,MeSH,D002312,Exact +GARD:0020518,MedDRA,10020871,Exact +GARD:0020519,Orphanet,217572,Exact +GARD:0020519,ICD-10,E74.0,NTBT +GARD:0020520,Orphanet,217581,Exact +GARD:0020521,Orphanet,217587,Exact +GARD:0020522,Orphanet,217591,Exact +GARD:0020523,Orphanet,217595,Exact +GARD:0020524,Orphanet,217598,Exact +GARD:0020525,Orphanet,217607,Exact +GARD:0020525,MeSH,C536231,Exact +GARD:0020525,ICD-10,I42.0,NTBT +GARD:0020525,UMLS,C0340427,Exact +GARD:0020526,Orphanet,217610,Exact +GARD:0020527,Orphanet,217613,Exact +GARD:0020528,Orphanet,217616,Exact +GARD:0020529,Orphanet,217619,Exact +GARD:0020530,Orphanet,217629,Exact +GARD:0020531,Orphanet,217632,Exact +GARD:0020531,UMLS,C0007196,Exact +GARD:0020531,MedDRA,10038748,Exact +GARD:0020531,MeSH,D002313,Exact +GARD:0020532,Orphanet,217635,Exact +GARD:0020532,UMLS,C0340429,Exact +GARD:0020533,Orphanet,217638,Exact +GARD:0020534,Orphanet,217678,Exact +GARD:0020535,Orphanet,217720,Exact +GARD:0020536,Orphanet,218436,Exact +GARD:0020537,Orphanet,218439,Exact +GARD:0020538,SNOMED-CT,771075004,NA +GARD:0020538,Orphanet,220448,Exact +GARD:0020538,ICD-10,D69.4,NTBT +GARD:0020539,Orphanet,220452,Exact +GARD:0020539,ICD-10,D69.1,NTBT +GARD:0020539,ICD-11,3B62.01,Exact +GARD:0020540,Orphanet,220489,Exact +GARD:0020540,UMLS,C0282193,Exact +GARD:0020540,UMLS,C0018995,Exact +GARD:0020540,ICD-10,E83.1,NTBT +GARD:0020541,SNOMED-CT,783180007,NA +GARD:0020541,Orphanet,221078,Exact +GARD:0020541,ICD-10,G52.7,NTBT +GARD:0020542,Orphanet,221109,Exact +GARD:0020542,UMLS,C0015467,Exact +GARD:0020542,UMLS,C0010269,Exact +GARD:0020542,SNOMED-CT,23096007,NA +GARD:0020543,Orphanet,221114,Exact +GARD:0020544,Orphanet,221142,Exact +GARD:0020544,ICD-10,L90.8,NTBT +GARD:0020545,Orphanet,222628,Exact +GARD:0020546,Orphanet,223713,Exact +GARD:0020547,Orphanet,223727,Exact +GARD:0020547,UMLS,C0029463,Exact +GARD:0020547,MedDRA,10006007,Exact +GARD:0020547,UMLS,C1704327,Exact +GARD:0020547,SNOMED-CT,448710000,NA +GARD:0020548,Orphanet,223735,Exact +GARD:0020548,MedDRA,10025310,Exact +GARD:0020548,UMLS,C0024299,Exact +GARD:0020548,MeSH,D008223,Exact +GARD:0020548,SNOMED-CT,118600007,NA +GARD:0020549,Orphanet,225147,Exact +GARD:0020549,ICD-10,G23.2,NTBT +GARD:0020550,Orphanet,225681,Exact +GARD:0020551,Orphanet,225686,Exact +GARD:0020552,Orphanet,225689,Exact +GARD:0020553,Orphanet,225692,Exact +GARD:0020554,Orphanet,225696,Exact +GARD:0020555,Orphanet,225700,Exact +GARD:0020556,Orphanet,225703,Exact +GARD:0020557,Orphanet,225707,Exact +GARD:0020558,Orphanet,225710,Exact +GARD:0020559,Orphanet,225713,Exact +GARD:0020560,Orphanet,226292,Exact +GARD:0020560,ICD-10,E03.0,BTNT +GARD:0020560,ICD-10,E03.1,BTNT +GARD:0020561,Orphanet,226295,Exact +GARD:0020561,ICD-10,E03.0,NTBT +GARD:0020561,ICD-10,E03.1,NTBT +GARD:0020562,SNOMED-CT,718194004,NA +GARD:0020562,Orphanet,226307,Exact +GARD:0020562,ICD-10,E03.1,NTBT +GARD:0020563,Orphanet,226313,Exact +GARD:0020563,ICD-10,P72.2,NTBT +GARD:0020563,SNOMED-CT,783177006,NA +GARD:0020564,Orphanet,226316,Exact +GARD:0020564,ICD-10,P72.2,NTBT +GARD:0020564,SNOMED-CT,770631009,NA +GARD:0020565,Orphanet,227510,Exact +GARD:0020565,ICD-10,G90.3,NTBT +GARD:0020566,Orphanet,227972,Exact +GARD:0020566,UMLS,C0409998,Exact +GARD:0020566,MedDRA,10051222,Exact +GARD:0020566,SNOMED-CT,239910001,NA +GARD:0020567,Orphanet,227990,Exact +GARD:0020567,ICD-10,E31.0,NTBT +GARD:0020567,SNOMED-CT,449730005,NA +GARD:0020568,Orphanet,228113,Exact +GARD:0020568,ICD-11,DB50.1,Exact +GARD:0020568,MedDRA,10002156,Exact +GARD:0020568,SNOMED-CT,786878009,NA +GARD:0020568,UMLS,C0205929,Exact +GARD:0020568,ICD-10,K60.3,Exact +GARD:0020569,SNOMED-CT,721226005,NA +GARD:0020569,Orphanet,228116,Exact +GARD:0020569,ICD-10,I28.8,NTBT +GARD:0020570,Orphanet,228119,Exact +GARD:0020570,UMLS,C0276758,Exact +GARD:0020570,MedDRA,10051919,Exact +GARD:0020570,ICD-10,B48.7,NTBT +GARD:0020570,SNOMED-CT,64250002,NA +GARD:0020571,Orphanet,228145,Exact +GARD:0020572,Orphanet,228157,Exact +GARD:0020572,ICD-10,G35,NTBT +GARD:0020572,SNOMED-CT,766246000,NA +GARD:0020573,Orphanet,228184,Exact +GARD:0020573,ICD-10,Q87.2,NTBT +GARD:0020573,UMLS,C0265264,Exact +GARD:0020574,Orphanet,228215,Exact +GARD:0020575,Orphanet,228218,Exact +GARD:0020576,Orphanet,228221,Exact +GARD:0020577,Orphanet,228224,Exact +GARD:0020578,SNOMED-CT,773698001,NA +GARD:0020578,Orphanet,228227,Exact +GARD:0020579,Orphanet,228236,Exact +GARD:0020579,SNOMED-CT,773697006,NA +GARD:0020580,Orphanet,228243,Exact +GARD:0020580,SNOMED-CT,254739004,NA +GARD:0020581,SNOMED-CT,403401007,NA +GARD:0020581,Orphanet,228247,Exact +GARD:0020581,UMLS,C1274759,Exact +GARD:0020582,SNOMED-CT,239140003,NA +GARD:0020582,Orphanet,228254,Exact +GARD:0020583,Orphanet,228264,Exact +GARD:0020584,SNOMED-CT,238829001,NA +GARD:0020584,Orphanet,228272,Exact +GARD:0020584,UMLS,C0406550,Exact +GARD:0020584,ICD-10,L90.2,BTNT +GARD:0020584,ICD-10,L90.1,BTNT +GARD:0020585,Orphanet,228277,Exact +GARD:0020585,ICD-10,L90.8,NTBT +GARD:0020585,SNOMED-CT,733467001,NA +GARD:0020586,SNOMED-CT,19726003,NA +GARD:0020586,Orphanet,228285,Exact +GARD:0020586,UMLS,C0406549,Exact +GARD:0020587,Orphanet,228290,Exact +GARD:0020587,SNOMED-CT,763475004,NA +GARD:0020588,SNOMED-CT,764105002,NA +GARD:0020588,Orphanet,228293,Exact +GARD:0020589,Orphanet,228299,Exact +GARD:0020590,SNOMED-CT,398937006,NA +GARD:0020590,Orphanet,228312,Exact +GARD:0020590,ICD-11,3A20.1,Exact +GARD:0020590,UMLS,C0175816,Exact +GARD:0020590,ICD-10,D59.1,NTBT +GARD:0020591,Orphanet,228371,Exact +GARD:0020591,ICD-11,1A11.0,Exact +GARD:0020591,ICD-10,A05.1,NTBT +GARD:0020591,UMLS,C1739094,Exact +GARD:0020591,SNOMED-CT,398523009,NA +GARD:0020592,SNOMED-CT,723544007,NA +GARD:0020592,Orphanet,228379,Exact +GARD:0020592,UMLS,C3267126,Exact +GARD:0020593,SNOMED-CT,724016008,NA +GARD:0020593,Orphanet,228396,Exact +GARD:0020593,ICD-10,Q87.0,NTBT +GARD:0020594,Orphanet,228410,Exact +GARD:0020594,ICD-10,Q87.8,NTBT +GARD:0020594,SNOMED-CT,723448007,NA +GARD:0020595,SNOMED-CT,719665003,NA +GARD:0020595,Orphanet,228415,Exact +GARD:0020595,ICD-10,Q92.3,NTBT +GARD:0020596,Orphanet,229720,Exact +GARD:0020597,Orphanet,230800,Exact +GARD:0020597,ICD-10,A05.1,NTBT +GARD:0020598,Orphanet,231080,Exact +GARD:0020599,Orphanet,231111,Exact +GARD:0020599,ICD-11,4A40.1,Exact +GARD:0020599,MedDRA,10013706,Exact +GARD:0020599,UMLS,C0263591,Exact +GARD:0020599,ICD-10,M32.0,Exact +GARD:0020599,SNOMED-CT,80258006,NA +GARD:0020600,Orphanet,231117,Exact +GARD:0020600,ICD-10,Q87.3,NTBT +GARD:0020601,Orphanet,231127,Exact +GARD:0020601,ICD-10,Q87.3,NTBT +GARD:0020602,Orphanet,231130,Exact +GARD:0020602,ICD-10,Q87.3,NTBT +GARD:0020603,Orphanet,231137,Exact +GARD:0020603,ICD-10,Q87.1,NTBT +GARD:0020604,Orphanet,231140,Exact +GARD:0020604,ICD-10,Q87.1,NTBT +GARD:0020605,Orphanet,231144,Exact +GARD:0020605,ICD-10,Q87.1,NTBT +GARD:0020606,Orphanet,231147,Exact +GARD:0020606,ICD-10,Q87.1,NTBT +GARD:0020607,Orphanet,231230,Exact +GARD:0020607,ICD-10,D58.2,NTBT +GARD:0020608,SNOMED-CT,61777009,NA +GARD:0020608,Orphanet,231242,Exact +GARD:0020608,ICD-10,D58.2,NTBT +GARD:0020609,Orphanet,231249,Exact +GARD:0020609,UMLS,C0472777,Exact +GARD:0020609,ICD-10,D58.2,NTBT +GARD:0020609,SNOMED-CT,234392002,NA +GARD:0020610,Orphanet,231386,Exact +GARD:0020610,ICD-10,D58.2,NTBT +GARD:0020611,Orphanet,231413,Exact +GARD:0020611,ICD-10,G61.0,NTBT +GARD:0020612,Orphanet,231416,Exact +GARD:0020612,ICD-10,G61.0,NTBT +GARD:0020613,Orphanet,231419,Exact +GARD:0020613,ICD-10,G61.0,NTBT +GARD:0020614,SNOMED-CT,783010003,NA +GARD:0020614,Orphanet,231426,Exact +GARD:0020614,ICD-10,G61.0,NTBT +GARD:0020615,Orphanet,231445,Exact +GARD:0020615,SNOMED-CT,766722008,NA +GARD:0020615,ICD-10,G61.0,NTBT +GARD:0020616,Orphanet,231450,Exact +GARD:0020616,ICD-10,G61.0,NTBT +GARD:0020616,SNOMED-CT,783244002,NA +GARD:0020617,Orphanet,231457,Exact +GARD:0020617,UMLS,C2315246,Exact +GARD:0020617,ICD-10,G61.0,NTBT +GARD:0020617,SNOMED-CT,430042004,NA +GARD:0020618,SNOMED-CT,766049000,NA +GARD:0020618,Orphanet,231466,Exact +GARD:0020618,ICD-10,G61.0,NTBT +GARD:0020619,Orphanet,231573,Exact +GARD:0020619,ICD-11,KC31,Exact +GARD:0020619,SNOMED-CT,773691007,NA +GARD:0020620,SNOMED-CT,715868005,NA +GARD:0020620,Orphanet,231580,Exact +GARD:0020620,ICD-10,E26.0,NTBT +GARD:0020621,Orphanet,231625,Exact +GARD:0020621,ICD-10,C74.0,ND (not yet decided/unable to decide) +GARD:0020621,ICD-10,E26.0,ND (not yet decided/unable to decide) +GARD:0020622,Orphanet,231632,Exact +GARD:0020622,SNOMED-CT,778064009,NA +GARD:0020622,ICD-10,E26.8,NTBT +GARD:0020623,Orphanet,231637,Exact +GARD:0020624,Orphanet,231641,Exact +GARD:0020625,Orphanet,231742,Exact +GARD:0020626,Orphanet,232035,Exact +GARD:0020627,Orphanet,232288,Exact +GARD:0020627,ICD-10,D56.0,NTBT +GARD:0020628,Orphanet,233655,Exact +GARD:0020629,Orphanet,235832,Exact +GARD:0020630,Orphanet,235936,Exact +GARD:0020630,ICD-10,E26.0,NTBT +GARD:0020630,UMLS,C3713420,Exact +GARD:0020631,Orphanet,238269,Exact +GARD:0020631,ICD-10,E85.0,NTBT +GARD:0020632,SNOMED-CT,783158009,NA +GARD:0020632,Orphanet,238305,Exact +GARD:0020632,ICD-10,E23.6,NTBT +GARD:0020633,Orphanet,238510,Exact +GARD:0020633,UMLS,C0024314,Exact +GARD:0020634,Orphanet,238517,Exact +GARD:0020634,ICD-10,E72.0,NTBT +GARD:0020634,ICD-11,GB90.40,Exact +GARD:0020635,Orphanet,238536,Exact +GARD:0020635,ICD-10,D75.1,NTBT +GARD:0020636,Orphanet,238547,Exact +GARD:0020636,ICD-10,D75.1,NTBT +GARD:0020636,UMLS,C1318533,Exact +GARD:0020637,Orphanet,238621,Exact +GARD:0020638,Orphanet,238637,Exact +GARD:0020638,ICD-11,LB31.7,Exact +GARD:0020638,ICD-10,Q62.7,NTBT +GARD:0020638,UMLS,C0431752,Exact +GARD:0020638,SNOMED-CT,253904001,NA +GARD:0020639,Orphanet,238642,Exact +GARD:0020639,ICD-10,Q62.2,NTBT +GARD:0020640,Orphanet,238646,Exact +GARD:0020640,ICD-10,Q62.2,NTBT +GARD:0020641,Orphanet,238650,Exact +GARD:0020641,ICD-10,Q62.2,NTBT +GARD:0020642,Orphanet,238654,Exact +GARD:0020642,ICD-10,Q62.2,NTBT +GARD:0020643,Orphanet,238666,Exact +GARD:0020643,ICD-10,E23.0,NTBT +GARD:0020644,Orphanet,238688,Exact +GARD:0020644,ICD-10,P72.2,NTBT +GARD:0020644,SNOMED-CT,773987000,NA +GARD:0020645,Orphanet,238696,Exact +GARD:0020645,ICD-10,P72.2,NTBT +GARD:0020646,Orphanet,238699,Exact +GARD:0020646,ICD-10,P72.2,NTBT +GARD:0020647,Orphanet,240094,Exact +GARD:0020647,ICD-10,G23.1,NTBT +GARD:0020648,Orphanet,240103,Exact +GARD:0020648,ICD-10,G23.1,NTBT +GARD:0020649,Orphanet,240112,Exact +GARD:0020649,ICD-10,G23.1,NTBT +GARD:0020650,Orphanet,240371,Exact +GARD:0020651,Orphanet,244275,Exact +GARD:0020651,ICD-10,M31.1,NTBT +GARD:0020652,Orphanet,244283,Exact +GARD:0020652,ICD-10,Q44.2,NTBT +GARD:0020652,SNOMED-CT,717156002,NA +GARD:0020653,SNOMED-CT,763740000,NA +GARD:0020653,Orphanet,247165,Exact +GARD:0020653,ICD-10,T56.1,NTBT +GARD:0020654,Orphanet,247234,Exact +GARD:0020654,ICD-10,G31.8,NTBT +GARD:0020654,SNOMED-CT,734023003,NA +GARD:0020655,Orphanet,247239,Exact +GARD:0020656,Orphanet,247242,Exact +GARD:0020657,Orphanet,247257,Exact +GARD:0020657,MedDRA,10035667,Exact +GARD:0020657,ICD-10,A22.1,NTBT +GARD:0020657,UMLS,C0155866,Exact +GARD:0020657,SNOMED-CT,11389007,NA +GARD:0020658,SNOMED-CT,783766005,NA +GARD:0020658,Orphanet,247378,Exact +GARD:0020658,ICD-10,D75.1,NTBT +GARD:0020659,Orphanet,247546,Exact +GARD:0020659,ICD-10,E72.2,NTBT +GARD:0020660,Orphanet,247573,Exact +GARD:0020660,SNOMED-CT,12066005,NA +GARD:0020660,ICD-10,E72.2,NTBT +GARD:0020661,SNOMED-CT,429735007,NA +GARD:0020661,Orphanet,247582,Exact +GARD:0020661,UMLS,C1863844,Exact +GARD:0020661,ICD-10,E72.2,NTBT +GARD:0020661,UMLS,C1997910,Exact +GARD:0020662,Orphanet,247638,Exact +GARD:0020662,ICD-10,E83.3,NTBT +GARD:0020663,Orphanet,247718,Exact +GARD:0020663,ICD-10,G72.4,NTBT +GARD:0020663,SNOMED-CT,766706007,NA +GARD:0020664,Orphanet,247724,Exact +GARD:0020664,ICD-10,M60.8,NTBT +GARD:0020664,SNOMED-CT,778050009,NA +GARD:0020665,Orphanet,247765,Exact +GARD:0020665,ICD-10,G11.1,NTBT +GARD:0020666,Orphanet,247815,Exact +GARD:0020666,ICD-10,G11.8,NTBT +GARD:0020667,Orphanet,248095,Exact +GARD:0020667,UMLS,C0029411,Exact +GARD:0020667,MeSH,D010004,Exact +GARD:0020667,ICD-10,M89.4,NTBT +GARD:0020668,Orphanet,248293,Exact +GARD:0020668,UMLS,C0041782,Exact +GARD:0020669,Orphanet,248296,Exact +GARD:0020670,Orphanet,248302,Exact +GARD:0020671,Orphanet,248308,Exact +GARD:0020671,UMLS,C0005779,Exact +GARD:0020671,UMLS,C0019087,Exact +GARD:0020672,Orphanet,248315,Exact +GARD:0020673,Orphanet,248326,Exact +GARD:0020674,Orphanet,248340,Exact +GARD:0020674,ICD-10,D69.1,NTBT +GARD:0020674,SNOMED-CT,9417000,NA +GARD:0020675,Orphanet,248347,Exact +GARD:0020676,Orphanet,248358,Exact +GARD:0020677,Orphanet,248361,Exact +GARD:0020678,Orphanet,248365,Exact +GARD:0020679,Orphanet,248368,Exact +GARD:0020680,Orphanet,248401,Exact +GARD:0020681,Orphanet,248404,Exact +GARD:0020682,Orphanet,250165,Exact +GARD:0020683,Orphanet,250805,Exact +GARD:0020684,Orphanet,250808,Exact +GARD:0020685,Orphanet,250811,Exact +GARD:0020686,Orphanet,250932,Exact +GARD:0020686,ICD-10,H47.2,NTBT +GARD:0020686,SNOMED-CT,717975006,NA +GARD:0020687,Orphanet,250972,Exact +GARD:0020687,UMLS,C2750798,Exact +GARD:0020687,SNOMED-CT,771336003,NA +GARD:0020688,Orphanet,251004,Exact +GARD:0020688,ICD-10,Q99.8,NTBT +GARD:0020688,SNOMED-CT,766719006,NA +GARD:0020689,SNOMED-CT,770562000,NA +GARD:0020689,Orphanet,251009,Exact +GARD:0020689,ICD-10,Q99.8,NTBT +GARD:0020690,Orphanet,251014,Exact +GARD:0020690,ICD-10,Q93.5,NTBT +GARD:0020690,SNOMED-CT,716387004,NA +GARD:0020691,SNOMED-CT,719662000,NA +GARD:0020691,Orphanet,251046,Exact +GARD:0020691,ICD-10,Q93.5,NTBT +GARD:0020692,SNOMED-CT,773326003,NA +GARD:0020692,Orphanet,251061,Exact +GARD:0020692,ICD-10,Q93.5,NTBT +GARD:0020693,SNOMED-CT,719646006,NA +GARD:0020693,Orphanet,251066,Exact +GARD:0020693,ICD-10,Q93.5,NTBT +GARD:0020694,SNOMED-CT,773328002,NA +GARD:0020694,Orphanet,251304,Exact +GARD:0020694,ICD-10,M08.8,NTBT +GARD:0020695,Orphanet,251307,Exact +GARD:0020695,ICD-10,I09.2,NTBT +GARD:0020695,SNOMED-CT,766704005,NA +GARD:0020696,Orphanet,251312,Exact +GARD:0020696,UMLS,C1858556,Exact +GARD:0020696,UMLS,C0026272,Exact +GARD:0020696,MedDRA,10027754,Exact +GARD:0020696,ICD-10,M35.1,Exact +GARD:0020696,SNOMED-CT,398021003,NA +GARD:0020697,Orphanet,251325,Exact +GARD:0020697,ICD-11,4A85.03,Exact +GARD:0020697,ICD-10,M31.8,NTBT +GARD:0020698,Orphanet,251328,Exact +GARD:0020698,ICD-10,I77.6,NTBT +GARD:0020699,Orphanet,251332,Exact +GARD:0020699,ICD-10,R65.2,NTBT +GARD:0020700,Orphanet,251375,Exact +GARD:0020700,UMLS,C0272085,Exact +GARD:0020700,ICD-10,D57.2,NTBT +GARD:0020700,SNOMED-CT,47024008,NA +GARD:0020701,Orphanet,251529,Exact +GARD:0020702,Orphanet,251535,Exact +GARD:0020703,Orphanet,251558,Exact +GARD:0020703,UMLS,C0206715,Exact +GARD:0020704,Orphanet,251561,Exact +GARD:0020705,SNOMED-CT,1157062009,NA +GARD:0020705,Orphanet,251579,Exact +GARD:0020705,UMLS,C0334588,Exact +GARD:0020705,ICD-10,C71.9,NTBT +GARD:0020706,Orphanet,251592,Exact +GARD:0020706,UMLS,C1314694,Exact +GARD:0020706,MedDRA,10065869,Exact +GARD:0020707,Orphanet,251598,Exact +GARD:0020707,UMLS,C0334580,Exact +GARD:0020707,ICD-10,C71.9,NTBT +GARD:0020707,SNOMED-CT,1156415003,NA +GARD:0020708,Orphanet,251601,Exact +GARD:0020708,MedDRA,10065889,Exact +GARD:0020708,UMLS,C0334582,Exact +GARD:0020708,ICD-10,C71.9,NTBT +GARD:0020708,SNOMED-CT,1157068008,NA +GARD:0020709,Orphanet,251604,Exact +GARD:0020709,ICD-10,C71.9,NTBT +GARD:0020709,UMLS,C0334581,Exact +GARD:0020709,SNOMED-CT,1157064005,NA +GARD:0020710,Orphanet,251615,Exact +GARD:0020710,UMLS,C1519086,Exact +GARD:0020710,ICD-10,C71.9,NTBT +GARD:0020710,SNOMED-CT,1157070004,NA +GARD:0020711,SNOMED-CT,608817003,NA +GARD:0020711,Orphanet,251623,Exact +GARD:0020711,ICD-10,C71.9,NTBT +GARD:0020711,UMLS,C2986550,Exact +GARD:0020712,Orphanet,251651,Exact +GARD:0020712,UMLS,C0280793,Exact +GARD:0020713,Orphanet,251668,Exact +GARD:0020714,Orphanet,251671,Exact +GARD:0020714,ICD-10,C71.9,NTBT +GARD:0020714,UMLS,C2363903,Exact +GARD:0020714,SNOMED-CT,1156412000,NA +GARD:0020715,SNOMED-CT,715900001,NA +GARD:0020715,Orphanet,251674,Exact +GARD:0020715,ICD-10,C71.9,NTBT +GARD:0020716,Orphanet,251852,Exact +GARD:0020717,Orphanet,251855,Exact +GARD:0020717,ICD-10,C71.6,NTBT +GARD:0020717,SNOMED-CT,1156469001,NA +GARD:0020718,Orphanet,251870,Exact +GARD:0020718,UMLS,C0206663,Exact +GARD:0020718,MedDRA,10057846,Exact +GARD:0020718,UMLS,C0206093,Exact +GARD:0020719,SNOMED-CT,116381000119105,NA +GARD:0020719,Orphanet,251877,Exact +GARD:0020719,UMLS,C0206718,Exact +GARD:0020719,MedDRA,10017708,Exact +GARD:0020719,ICD-10,C71.9,NTBT +GARD:0020720,SNOMED-CT,715901002,NA +GARD:0020720,Orphanet,251880,Exact +GARD:0020720,ICD-10,C71.9,NTBT +GARD:0020720,MedDRA,10014966,Exact +GARD:0020720,UMLS,C0700367,Exact +GARD:0020721,Orphanet,251883,Exact +GARD:0020721,ICD-10,C72.9,NTBT +GARD:0020721,UMLS,C0334596,Exact +GARD:0020721,SNOMED-CT,818967003,NA +GARD:0020722,Orphanet,251896,Exact +GARD:0020722,UMLS,C0085138,Exact +GARD:0020722,SNOMED-CT,254942002,NA +GARD:0020723,Orphanet,251902,Exact +GARD:0020723,ICD-10,C71.5,NTBT +GARD:0020723,UMLS,C1266176,Exact +GARD:0020723,SNOMED-CT,1156470000,NA +GARD:0020724,Orphanet,251905,Exact +GARD:0020725,Orphanet,251915,Exact +GARD:0020725,ICD-10,D44.5,NTBT +GARD:0020725,UMLS,C2985219,Exact +GARD:0020725,SNOMED-CT,1156472008,NA +GARD:0020726,Orphanet,251924,Exact +GARD:0020727,SNOMED-CT,716787002,NA +GARD:0020727,Orphanet,251927,Exact +GARD:0020727,ICD-10,C72.9,NTBT +GARD:0020728,Orphanet,251934,Exact +GARD:0020729,SNOMED-CT,780822000,NA +GARD:0020729,Orphanet,251940,Exact +GARD:0020729,ICD-10,D33.0,NTBT +GARD:0020730,SNOMED-CT,1156457009,NA +GARD:0020730,Orphanet,251962,Exact +GARD:0020730,ICD-10,D33.0,NTBT +GARD:0020730,UMLS,C2985174,Exact +GARD:0020731,Orphanet,251992,Exact +GARD:0020731,UMLS,C0017075,Exact +GARD:0020731,MedDRA,10017709,Exact +GARD:0020731,ICD-10,D36.1,NTBT +GARD:0020731,SNOMED-CT,116371000119107,NA +GARD:0020732,Orphanet,251995,Exact +GARD:0020733,Orphanet,252006,Exact +GARD:0020733,ICD-10,C72.9,NTBT +GARD:0020734,Orphanet,252015,Exact +GARD:0020734,ICD-10,C71.2,NTBT +GARD:0020735,Orphanet,252018,Exact +GARD:0020735,ICD-10,D48.7,NTBT +GARD:0020736,Orphanet,252021,Exact +GARD:0020736,ICD-10,C72.9,NTBT +GARD:0020737,Orphanet,252025,Exact +GARD:0020737,MedDRA,10061282,Exact +GARD:0020737,UMLS,C0025284,Exact +GARD:0020737,SNOMED-CT,126965008,NA +GARD:0020738,Orphanet,252028,Exact +GARD:0020739,Orphanet,252031,Exact +GARD:0020739,ICD-10,C70.9,NTBT +GARD:0020739,SNOMED-CT,770628008,NA +GARD:0020740,Orphanet,252046,Exact +GARD:0020740,ICD-10,D32.9,NTBT +GARD:0020740,SNOMED-CT,277527003,NA +GARD:0020740,UMLS,C1266113,Exact +GARD:0020741,Orphanet,252128,Exact +GARD:0020741,ICD-10,C47.9,NTBT +GARD:0020741,UMLS,C1266188,Exact +GARD:0020741,SNOMED-CT,761958009,NA +GARD:0020742,Orphanet,252190,Exact +GARD:0020743,SNOMED-CT,404040002,NA +GARD:0020743,Orphanet,252212,Exact +GARD:0020743,UMLS,C0334616,Exact +GARD:0020743,ICD-10,C47.9,NTBT +GARD:0020744,Orphanet,254370,Exact +GARD:0020744,ICD-10,L43.0,NTBT +GARD:0020744,ICD-10,L43.8,NTBT +GARD:0020744,ICD-10,L43.1,NTBT +GARD:0020744,ICD-10,L43.2,NTBT +GARD:0020744,ICD-10,L43.3,NTBT +GARD:0020744,ICD-10,L43.9,NTBT +GARD:0020744,ICD-10,L66.1,NTBT +GARD:0020745,Orphanet,254373,Exact +GARD:0020745,ICD-10,L43.1,NTBT +GARD:0020745,ICD-10,L43.2,NTBT +GARD:0020745,ICD-10,L43.3,NTBT +GARD:0020745,ICD-10,L43.0,NTBT +GARD:0020745,ICD-10,L43.8,NTBT +GARD:0020745,ICD-10,L43.9,NTBT +GARD:0020746,Orphanet,254504,Exact +GARD:0020746,UMLS,C1443900,Exact +GARD:0020746,ICD-10,A05.1,NTBT +GARD:0020746,SNOMED-CT,409562009,NA +GARD:0020747,Orphanet,254509,Exact +GARD:0020747,ICD-10,A05.1,NTBT +GARD:0020748,Orphanet,254685,Exact +GARD:0020748,UMLS,C2931618,Exact +GARD:0020748,UMLS,C1135868,Exact +GARD:0020748,SNOMED-CT,416402001,NA +GARD:0020749,Orphanet,254693,Exact +GARD:0020749,ICD-11,JA02.1,Exact +GARD:0020749,UMLS,C0334529,Exact +GARD:0020749,ICD-10,O01.1,Exact +GARD:0020749,SNOMED-CT,237250000,NA +GARD:0020750,SNOMED-CT,609515005,NA +GARD:0020750,Orphanet,254698,Exact +GARD:0020750,ICD-10,D39.2,NTBT +GARD:0020750,UMLS,C1266159,Exact +GARD:0020751,Orphanet,254704,Exact +GARD:0020751,ICD-10,R77.8,NTBT +GARD:0020751,SNOMED-CT,766929007,NA +GARD:0020752,Orphanet,254746,Exact +GARD:0020752,ICD-10,E74.4,NTBT +GARD:0020753,Orphanet,254749,Exact +GARD:0020753,ICD-10,E88.8,NTBT +GARD:0020754,Orphanet,254758,Exact +GARD:0020755,Orphanet,254767,Exact +GARD:0020756,Orphanet,254776,Exact +GARD:0020757,Orphanet,254788,Exact +GARD:0020757,ICD-10,G71.3,NTBT +GARD:0020758,Orphanet,254807,Exact +GARD:0020758,ICD-11,5C53.21,Exact +GARD:0020759,Orphanet,254818,Exact +GARD:0020759,UMLS,C3683791,Exact +GARD:0020760,Orphanet,254822,Exact +GARD:0020761,Orphanet,254827,Exact +GARD:0020762,Orphanet,254830,Exact +GARD:0020762,ICD-11,5C53.30,Exact +GARD:0020763,Orphanet,254834,Exact +GARD:0020763,ICD-11,5C53.31,Exact +GARD:0020764,Orphanet,254837,Exact +GARD:0020765,Orphanet,254843,Exact +GARD:0020766,Orphanet,254846,Exact +GARD:0020767,Orphanet,254851,Exact +GARD:0020767,ICD-10,E88.8,NTBT +GARD:0020767,SNOMED-CT,717054001,NA +GARD:0020768,Orphanet,254854,Exact +GARD:0020768,ICD-10,G71.3,NTBT +GARD:0020768,SNOMED-CT,732245008,NA +GARD:0020769,Orphanet,254871,Exact +GARD:0020769,ICD-10,E88.8,NTBT +GARD:0020769,UMLS,C3711385,Exact +GARD:0020770,SNOMED-CT,773325004,NA +GARD:0020770,Orphanet,261102,Exact +GARD:0020770,ICD-10,Q92.3,NTBT +GARD:0020771,Orphanet,261144,Exact +GARD:0020771,ICD-10,Q93.5,NTBT +GARD:0020771,SNOMED-CT,719574007,NA +GARD:0020772,SNOMED-CT,733518000,NA +GARD:0020772,Orphanet,261204,Exact +GARD:0020772,ICD-10,Q92.3,NTBT +GARD:0020773,SNOMED-CT,771341006,NA +GARD:0020773,Orphanet,261229,Exact +GARD:0020773,ICD-10,Q92.3,NTBT +GARD:0020774,Orphanet,261236,Exact +GARD:0020774,ICD-10,Q93.5,NTBT +GARD:0020774,SNOMED-CT,719577000,NA +GARD:0020775,Orphanet,261243,Exact +GARD:0020775,ICD-10,Q92.3,NTBT +GARD:0020775,SNOMED-CT,719578005,NA +GARD:0020776,Orphanet,261257,Exact +GARD:0020776,ICD-10,Q93.5,NTBT +GARD:0020776,SNOMED-CT,764696007,NA +GARD:0020777,Orphanet,261304,Exact +GARD:0020777,SNOMED-CT,724070005,NA +GARD:0020777,ICD-10,Q93.5,NTBT +GARD:0020778,SNOMED-CT,733520002,NA +GARD:0020778,Orphanet,261311,Exact +GARD:0020778,ICD-10,Q93.5,NTBT +GARD:0020779,SNOMED-CT,787171006,NA +GARD:0020779,Orphanet,261323,Exact +GARD:0020779,ICD-10,Q93.5,NTBT +GARD:0020780,SNOMED-CT,764524005,NA +GARD:0020780,Orphanet,261337,Exact +GARD:0020780,ICD-10,Q92.3,NTBT +GARD:0020781,Orphanet,261344,Exact +GARD:0020781,ICD-10,Q92.2,NTBT +GARD:0020781,SNOMED-CT,768927001,NA +GARD:0020782,Orphanet,261501,Exact +GARD:0020782,ICD-10,H35.5,NTBT +GARD:0020782,SNOMED-CT,733626002,NA +GARD:0020783,SNOMED-CT,783735004,NA +GARD:0020783,Orphanet,261519,Exact +GARD:0020783,ICD-10,Q99.8,NTBT +GARD:0020784,Orphanet,261524,Exact +GARD:0020784,ICD-10,Q99.8,NTBT +GARD:0020784,SNOMED-CT,783718003,NA +GARD:0020785,SNOMED-CT,763407008,NA +GARD:0020785,Orphanet,261529,Exact +GARD:0020785,ICD-10,Q98.6,NTBT +GARD:0020786,Orphanet,261584,Exact +GARD:0020786,ICD-10,D12.6,NTBT +GARD:0020787,Orphanet,261638,Exact +GARD:0020787,ICD-10,Q87.8,NTBT +GARD:0020788,Orphanet,261647,Exact +GARD:0020788,ICD-10,Q87.8,NTBT +GARD:0020789,Orphanet,261766,Exact +GARD:0020789,ICD-10,Q93.5,NTBT +GARD:0020790,Orphanet,261771,Exact +GARD:0020790,ICD-10,Q93.5,NTBT +GARD:0020791,Orphanet,261776,Exact +GARD:0020791,ICD-10,Q93.5,NTBT +GARD:0020792,Orphanet,261781,Exact +GARD:0020793,Orphanet,261786,Exact +GARD:0020794,Orphanet,261791,Exact +GARD:0020794,ICD-10,Q93.5,NTBT +GARD:0020795,Orphanet,261796,Exact +GARD:0020795,ICD-10,Q93.5,NTBT +GARD:0020796,Orphanet,261801,Exact +GARD:0020796,ICD-10,Q93.5,NTBT +GARD:0020797,Orphanet,261806,Exact +GARD:0020797,ICD-10,Q93.5,NTBT +GARD:0020798,Orphanet,261811,Exact +GARD:0020798,ICD-10,Q93.5,NTBT +GARD:0020799,Orphanet,261816,Exact +GARD:0020799,ICD-10,Q93.5,NTBT +GARD:0020800,Orphanet,261821,Exact +GARD:0020800,ICD-10,Q93.5,NTBT +GARD:0020800,ICD-11,LD44.C0,Exact +GARD:0020801,Orphanet,261826,Exact +GARD:0020801,ICD-10,Q93.5,NTBT +GARD:0020802,Orphanet,261831,Exact +GARD:0020802,ICD-10,Q93.5,NTBT +GARD:0020803,Orphanet,261836,Exact +GARD:0020803,ICD-10,Q93.5,NTBT +GARD:0020804,Orphanet,261841,Exact +GARD:0020804,ICD-10,Q93.5,NTBT +GARD:0020805,Orphanet,261846,Exact +GARD:0020805,ICD-10,Q93.5,NTBT +GARD:0020806,SNOMED-CT,36369001,NA +GARD:0020806,Orphanet,261857,Exact +GARD:0020806,UMLS,C0795796,Exact +GARD:0020806,ICD-11,LD44.11,Exact +GARD:0020806,ICD-10,Q93.5,NTBT +GARD:0020807,Orphanet,261866,Exact +GARD:0020807,ICD-11,LD44.21,Exact +GARD:0020807,ICD-10,Q93.5,NTBT +GARD:0020808,Orphanet,261884,Exact +GARD:0020808,ICD-10,Q93.3,Exact +GARD:0020809,Orphanet,261893,Exact +GARD:0020809,ICD-10,Q93.4,Exact +GARD:0020809,UMLS,C0010314,Exact +GARD:0020810,Orphanet,261902,Exact +GARD:0020810,ICD-11,LD44.61,Exact +GARD:0020810,ICD-10,Q93.5,NTBT +GARD:0020811,Orphanet,261911,Exact +GARD:0020811,ICD-11,LD44.71,Exact +GARD:0020811,ICD-10,Q93.5,NTBT +GARD:0020812,Orphanet,261920,Exact +GARD:0020812,ICD-11,LD44.81,Exact +GARD:0020812,ICD-10,Q93.5,NTBT +GARD:0020812,UMLS,C2931635,Exact +GARD:0020812,UMLS,C2931634,Exact +GARD:0020813,Orphanet,261929,Exact +GARD:0020813,ICD-11,LD44.91,Exact +GARD:0020813,ICD-10,Q93.5,NTBT +GARD:0020813,UMLS,C0265425,Exact +GARD:0020813,UMLS,C2931695,Exact +GARD:0020814,Orphanet,261938,Exact +GARD:0020814,UMLS,C0795836,Exact +GARD:0020814,ICD-10,Q93.5,NTBT +GARD:0020814,ICD-11,LD44.A1,Exact +GARD:0020815,Orphanet,261947,Exact +GARD:0020815,ICD-11,LD44.B1,Exact +GARD:0020815,ICD-10,Q93.5,NTBT +GARD:0020816,Orphanet,261956,Exact +GARD:0020816,ICD-10,Q93.5,NTBT +GARD:0020816,ICD-11,LD44.G1,Exact +GARD:0020817,Orphanet,261965,Exact +GARD:0020817,ICD-11,LD44.H1,Exact +GARD:0020817,ICD-10,Q93.5,NTBT +GARD:0020818,Orphanet,261974,Exact +GARD:0020818,UMLS,C0432442,Exact +GARD:0020818,ICD-11,LD44.J1,Exact +GARD:0020818,ICD-10,Q93.5,NTBT +GARD:0020819,Orphanet,261983,Exact +GARD:0020819,ICD-11,LD44.K1,Exact +GARD:0020819,ICD-10,Q93.5,NTBT +GARD:0020820,Orphanet,261992,Exact +GARD:0020820,ICD-10,Q93.5,NTBT +GARD:0020820,ICD-11,LD44.L1,Exact +GARD:0020821,Orphanet,262001,Exact +GARD:0020821,ICD-10,Q93.5,NTBT +GARD:0020821,ICD-11,LD44.10,Exact +GARD:0020822,Orphanet,262010,Exact +GARD:0020822,ICD-11,LD44.20,Exact +GARD:0020822,ICD-10,Q93.5,NTBT +GARD:0020822,UMLS,C0795804,Exact +GARD:0020823,Orphanet,262019,Exact +GARD:0020823,ICD-10,Q93.5,NTBT +GARD:0020823,ICD-11,LD44.30,Exact +GARD:0020824,Orphanet,262029,Exact +GARD:0020824,ICD-10,Q93.5,NTBT +GARD:0020824,UMLS,C0265404,Exact +GARD:0020824,ICD-11,LD44.40,Exact +GARD:0020825,Orphanet,262038,Exact +GARD:0020825,UMLS,C0740302,Exact +GARD:0020825,ICD-10,Q93.5,NTBT 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+GARD:0020967,ICD-10,Q01.0,NTBT +GARD:0020967,ICD-10,Q01.9,NTBT +GARD:0020967,ICD-10,Q01.2,NTBT +GARD:0020967,ICD-10,Q01.8,NTBT +GARD:0020968,SNOMED-CT,36010004,NA +GARD:0020968,Orphanet,268820,Exact +GARD:0020968,ICD-10,Q01.9,NTBT +GARD:0020968,ICD-10,Q01.1,NTBT +GARD:0020968,ICD-10,Q01.0,NTBT +GARD:0020968,ICD-10,Q01.2,NTBT +GARD:0020968,UMLS,C0009694,Exact +GARD:0020968,ICD-10,Q01.8,NTBT +GARD:0020969,SNOMED-CT,42376006,NA +GARD:0020969,Orphanet,268823,Exact +GARD:0020969,UMLS,C0014067,Exact +GARD:0020969,ICD-10,Q01.2,Exact +GARD:0020969,ICD-11,LA01,NTBT +GARD:0020970,Orphanet,268826,Exact +GARD:0020970,ICD-10,Q01.8,NTBT +GARD:0020970,SNOMED-CT,253109005,NA +GARD:0020970,UMLS,C0431294,Exact +GARD:0020971,Orphanet,268829,Exact +GARD:0020971,ICD-10,Q01.8,NTBT +GARD:0020972,Orphanet,268832,Exact +GARD:0020973,SNOMED-CT,771076003,NA +GARD:0020973,Orphanet,268838,Exact +GARD:0020974,Orphanet,268843,Exact +GARD:0020975,Orphanet,268865,Exact +GARD:0020975,UMLS,C0027806,Exact +GARD:0020975,SNOMED-CT,789120001,NA +GARD:0020976,Orphanet,268868,Exact +GARD:0020976,ICD-11,LA07.2,Exact +GARD:0020976,ICD-10,Q06.0,Exact +GARD:0020976,SNOMED-CT,78784005,NA +GARD:0020977,Orphanet,268920,Exact +GARD:0020977,ICD-11,LA05.1,Exact +GARD:0020977,UMLS,C0221355,Exact +GARD:0020977,ICD-10,Q04.5,NTBT +GARD:0020978,Orphanet,268926,Exact +GARD:0020978,ICD-10,Q04.8,NTBT +GARD:0020979,Orphanet,268936,Exact +GARD:0020979,ICD-10,Q04.1,Exact +GARD:0020979,ICD-11,LA05.4,Exact +GARD:0020979,UMLS,C0078982,Exact +GARD:0020979,SNOMED-CT,771147003,NA +GARD:0020980,Orphanet,268943,Exact +GARD:0020980,ICD-10,Q04.3,NTBT +GARD:0020980,SNOMED-CT,715905006,NA +GARD:0020981,Orphanet,268947,Exact +GARD:0020981,ICD-10,Q04.3,NTBT +GARD:0020982,Orphanet,268950,Exact +GARD:0020982,ICD-10,Q04.8,NTBT +GARD:0020982,ICD-11,LA05.51,Exact +GARD:0020982,UMLS,C0431380,Exact +GARD:0020983,Orphanet,268961,Exact +GARD:0020983,ICD-10,Q04.8,NTBT +GARD:0020984,Orphanet,268973,Exact +GARD:0020984,ICD-10,Q04.8,NTBT +GARD:0020985,Orphanet,268980,Exact +GARD:0020985,ICD-10,Q04.8,NTBT +GARD:0020986,Orphanet,268987,Exact +GARD:0020986,ICD-10,Q04.8,NTBT +GARD:0020987,Orphanet,269190,Exact +GARD:0020988,Orphanet,269194,Exact +GARD:0020989,Orphanet,269197,Exact +GARD:0020989,SNOMED-CT,230792007,NA +GARD:0020990,Orphanet,269203,Exact +GARD:0020990,ICD-10,Q04.3,NTBT +GARD:0020991,Orphanet,269206,Exact +GARD:0020991,ICD-10,Q04.3,NTBT +GARD:0020992,Orphanet,269209,Exact +GARD:0020992,ICD-10,Q04.3,NTBT +GARD:0020993,Orphanet,269212,Exact +GARD:0020993,ICD-10,Q03.1,NTBT +GARD:0020994,Orphanet,269215,Exact +GARD:0020994,ICD-10,Q03.1,NTBT +GARD:0020995,Orphanet,269218,Exact +GARD:0020995,SNOMED-CT,766934006,NA +GARD:0020995,ICD-10,Q04.3,NTBT +GARD:0020996,SNOMED-CT,771234002,NA +GARD:0020996,Orphanet,269221,Exact +GARD:0020996,ICD-10,Q04.3,NTBT +GARD:0020997,Orphanet,269224,Exact +GARD:0020997,ICD-10,Q04.3,NTBT +GARD:0020998,Orphanet,269505,Exact +GARD:0020998,ICD-10,Q03.8,NTBT +GARD:0020999,Orphanet,269523,Exact +GARD:0021000,Orphanet,269528,Exact +GARD:0021000,ICD-11,LD20.2,Exact +GARD:0021001,Orphanet,269531,Exact +GARD:0021002,Orphanet,269546,Exact +GARD:0021003,Orphanet,269550,Exact +GARD:0021004,Orphanet,269553,Exact +GARD:0021005,Orphanet,269557,Exact +GARD:0021006,Orphanet,269560,Exact +GARD:0021007,Orphanet,269564,Exact +GARD:0021008,Orphanet,269567,Exact +GARD:0021009,Orphanet,269570,Exact +GARD:0021010,Orphanet,269573,Exact +GARD:0021011,Orphanet,271832,Exact +GARD:0021012,Orphanet,271835,Exact +GARD:0021013,Orphanet,271841,Exact +GARD:0021014,Orphanet,271844,Exact +GARD:0021015,Orphanet,271847,Exact +GARD:0021016,Orphanet,271853,Exact +GARD:0021017,Orphanet,271861,Exact +GARD:0021018,Orphanet,271870,Exact +GARD:0021019,Orphanet,275729,Exact +GARD:0021020,Orphanet,275736,Exact +GARD:0021020,ICD-10,D69.8,NTBT +GARD:0021021,Orphanet,275742,Exact +GARD:0021022,Orphanet,275745,Exact +GARD:0021022,ICD-10,D56.0,NTBT +GARD:0021023,Orphanet,275749,Exact +GARD:0021023,ICD-10,D56.1,NTBT +GARD:0021024,Orphanet,275752,Exact +GARD:0021024,ICD-10,D57.0,BTNT +GARD:0021024,ICD-10,D57.8,BTNT +GARD:0021024,ICD-10,D57.2,BTNT +GARD:0021024,ICD-10,D57.1,BTNT +GARD:0021024,ICD-10,D57.3,BTNT +GARD:0021025,SNOMED-CT,697898008,NA +GARD:0021025,Orphanet,275766,Exact +GARD:0021025,UMLS,C0152171,Exact +GARD:0021025,MedDRA,10065151,Exact +GARD:0021025,ICD-10,I27.0,NTBT +GARD:0021025,UMLS,C3203102,Exact +GARD:0021026,Orphanet,275786,Exact +GARD:0021026,UMLS,C0340544,Exact +GARD:0021026,ICD-10,I27.2,NTBT +GARD:0021027,Orphanet,275791,Exact +GARD:0021027,ICD-10,I27.2,NTBT +GARD:0021028,Orphanet,275798,Exact +GARD:0021028,ICD-10,I27.2,NTBT +GARD:0021029,Orphanet,275803,Exact +GARD:0021029,ICD-10,I27.2,NTBT +GARD:0021030,Orphanet,275808,Exact +GARD:0021030,ICD-10,I27.2,NTBT +GARD:0021031,Orphanet,275813,Exact +GARD:0021031,ICD-10,I27.2,NTBT +GARD:0021031,UMLS,C1868851,Exact +GARD:0021032,Orphanet,275823,Exact +GARD:0021032,ICD-10,I27.2,NTBT +GARD:0021033,Orphanet,275828,Exact +GARD:0021033,ICD-10,I27.2,NTBT +GARD:0021034,Orphanet,275837,Exact +GARD:0021034,ICD-10,I27.2,NTBT +GARD:0021035,Orphanet,275844,Exact +GARD:0021036,Orphanet,275853,Exact +GARD:0021037,Orphanet,275938,Exact +GARD:0021037,ICD-10,P55.8,BTNT +GARD:0021037,ICD-10,P55.9,BTNT +GARD:0021037,ICD-10,P55.0,BTNT +GARD:0021037,ICD-10,P55.1,BTNT +GARD:0021038,Orphanet,275944,Exact +GARD:0021038,ICD-10,P55.8,NTBT +GARD:0021038,SNOMED-CT,234380002,NA +GARD:0021039,Orphanet,276058,Exact +GARD:0021040,Orphanet,276061,Exact +GARD:0021041,SNOMED-CT,717047007,NA +GARD:0021041,Orphanet,276066,Exact +GARD:0021041,ICD-10,K76.8,NTBT +GARD:0021042,Orphanet,276142,Exact +GARD:0021042,UMLS,C0036095,Exact +GARD:0021043,Orphanet,276145,Exact +GARD:0021043,ICD-10,C08.8,BTNT +GARD:0021043,ICD-10,C08.1,BTNT +GARD:0021043,ICD-10,C07,BTNT +GARD:0021043,ICD-10,C08.0,BTNT +GARD:0021043,SNOMED-CT,783155007,NA +GARD:0021044,Orphanet,276161,Exact +GARD:0021044,MedDRA,10061299,Exact +GARD:0021044,ICD-10,D44.8,NTBT +GARD:0021044,UMLS,C0027662,Exact +GARD:0021044,SNOMED-CT,46724008,NA +GARD:0021045,SNOMED-CT,763739002,NA +GARD:0021045,Orphanet,276174,Exact +GARD:0021045,ICD-10,G93.8,NTBT +GARD:0021046,Orphanet,276212,Exact +GARD:0021046,ICD-10,E76.2,NTBT +GARD:0021047,Orphanet,276223,Exact +GARD:0021047,ICD-10,E76.2,NTBT +GARD:0021048,Orphanet,276238,Exact +GARD:0021048,UMLS,C0751668,Exact +GARD:0021048,ICD-10,G11.8,NTBT +GARD:0021049,Orphanet,276241,Exact +GARD:0021049,ICD-10,G11.8,NTBT +GARD:0021049,UMLS,C0751669,Exact +GARD:0021050,Orphanet,276244,Exact +GARD:0021050,ICD-10,G11.8,NTBT +GARD:0021050,UMLS,C0751670,Exact +GARD:0021051,Orphanet,276280,Exact +GARD:0021051,ICD-10,Q87.3,NTBT +GARD:0021051,SNOMED-CT,771440006,NA +GARD:0021052,SNOMED-CT,782669004,NA +GARD:0021052,Orphanet,276422,Exact +GARD:0021052,ICD-10,Q92.3,NTBT +GARD:0021053,Orphanet,276525,Exact +GARD:0021053,UMLS,C2931834,Exact +GARD:0021053,ICD-10,E16.1,NTBT +GARD:0021054,SNOMED-CT,721834007,NA +GARD:0021054,Orphanet,276556,Exact +GARD:0021054,ICD-10,E16.1,NTBT +GARD:0021055,Orphanet,276585,Exact +GARD:0021055,ICD-10,E16.1,NTBT +GARD:0021056,Orphanet,276608,Exact +GARD:0021056,ICD-10,E16.1,NTBT +GARD:0021056,SNOMED-CT,717044000,NA +GARD:0021057,Orphanet,276630,Exact +GARD:0021057,ICD-10,Q87.0,NTBT +GARD:0021058,Orphanet,279882,Exact +GARD:0021058,MedDRA,10059593,Exact +GARD:0021058,ICD-10,F98.4,NTBT +GARD:0021058,UMLS,C1527306,Exact +GARD:0021058,SNOMED-CT,400948003,NA +GARD:0021059,Orphanet,279888,Exact +GARD:0021059,UMLS,C0154773,Exact +GARD:0021059,ICD-10,H44.0,NTBT +GARD:0021059,ICD-10,H44.1,NTBT +GARD:0021059,MedDRA,10000730,Exact +GARD:0021059,SNOMED-CT,1493002,NA +GARD:0021060,SNOMED-CT,13978000,NA +GARD:0021060,Orphanet,279891,Exact +GARD:0021060,ICD-10,H44.1,NTBT +GARD:0021060,ICD-10,H44.0,NTBT +GARD:0021060,MedDRA,10008864,Exact +GARD:0021060,UMLS,C0154774,Exact +GARD:0021061,Orphanet,279894,Exact +GARD:0021061,ICD-10,T37.2,NTBT +GARD:0021061,ICD-10,H35.3,NTBT +GARD:0021062,Orphanet,279897,Exact +GARD:0021062,ICD-10,C85.7,NTBT +GARD:0021063,Orphanet,279904,Exact +GARD:0021063,UMLS,C0281658,Exact +GARD:0021063,ICD-10,C85.7,NTBT +GARD:0021063,SNOMED-CT,420788006,NA +GARD:0021064,Orphanet,279911,Exact +GARD:0021065,SNOMED-CT,314429009,NA +GARD:0021065,Orphanet,279914,Exact +GARD:0021065,UMLS,C0042166,Exact +GARD:0021065,MedDRA,10022557,Exact +GARD:0021065,ICD-10,H30.2,NTBT +GARD:0021066,Orphanet,279919,Exact +GARD:0021066,ICD-10,H32.0,NTBT +GARD:0021067,Orphanet,279922,Exact +GARD:0021067,ICD-10,H20.8,NTBT +GARD:0021067,ICD-10,H20.0,NTBT +GARD:0021067,ICD-10,H20.1,NTBT +GARD:0021067,ICD-10,H20.9,NTBT +GARD:0021067,ICD-10,H20.2,NTBT +GARD:0021068,Orphanet,279925,Exact +GARD:0021068,ICD-10,H44.1,NTBT +GARD:0021069,Orphanet,279928,Exact +GARD:0021070,SNOMED-CT,717043006,NA +GARD:0021070,Orphanet,280065,Exact +GARD:0021070,ICD-10,E83.5,NTBT +GARD:0021071,SNOMED-CT,771236000,NA +GARD:0021071,Orphanet,280068,Exact +GARD:0021071,ICD-10,E83.5,NTBT +GARD:0021072,Orphanet,280205,Exact +GARD:0021072,ICD-10,Q32.1,NTBT +GARD:0021073,Orphanet,280219,Exact +GARD:0021073,SNOMED-CT,87607002,NA +GARD:0021073,UMLS,C0751916,Exact +GARD:0021073,ICD-10,E75.2,NTBT +GARD:0021074,Orphanet,280224,Exact +GARD:0021074,UMLS,C0751917,Exact +GARD:0021074,ICD-10,E75.2,NTBT +GARD:0021075,Orphanet,280229,Exact +GARD:0021075,ICD-10,E75.2,NTBT +GARD:0021076,Orphanet,280302,Exact +GARD:0021076,ICD-10,K86.1,NTBT +GARD:0021077,Orphanet,280315,Exact +GARD:0021077,ICD-10,K86.1,NTBT +GARD:0021078,Orphanet,280325,Exact +GARD:0021078,ICD-10,Q93.5,NTBT +GARD:0021078,SNOMED-CT,770902008,NA +GARD:0021079,Orphanet,280342,Exact +GARD:0021080,Orphanet,280365,Exact +GARD:0021080,ICD-10,E88.1,NTBT +GARD:0021081,Orphanet,280369,Exact +GARD:0021082,Orphanet,280373,Exact +GARD:0021083,Orphanet,280384,Exact +GARD:0021083,SNOMED-CT,770901001,NA +GARD:0021084,Orphanet,280397,Exact +GARD:0021084,SNOMED-CT,721219005,NA +GARD:0021084,ICD-10,A81.8,NTBT +GARD:0021085,Orphanet,280400,Exact +GARD:0021085,ICD-10,A81.8,NTBT +GARD:0021086,Orphanet,280403,Exact +GARD:0021086,SNOMED-CT,770900000,NA +GARD:0021087,Orphanet,280774,Exact +GARD:0021087,UMLS,C0473555,Exact +GARD:0021087,SNOMED-CT,238763007,NA +GARD:0021088,Orphanet,280785,Exact +GARD:0021088,ICD-10,Q82.2,NTBT +GARD:0021089,Orphanet,280794,Exact +GARD:0021089,ICD-10,Q82.2,NTBT +GARD:0021090,Orphanet,280802,Exact +GARD:0021090,ICD-10,Q33.2,NTBT +GARD:0021091,Orphanet,280811,Exact +GARD:0021091,ICD-10,Q33.2,NTBT +GARD:0021092,SNOMED-CT,68539005,NA +GARD:0021092,Orphanet,280821,Exact +GARD:0021092,ICD-10,Q33.2,NTBT +GARD:0021093,Orphanet,280827,Exact +GARD:0021093,ICD-10,Q33.0,NTBT +GARD:0021094,Orphanet,280832,Exact +GARD:0021094,ICD-10,Q33.0,NTBT +GARD:0021095,Orphanet,280840,Exact +GARD:0021095,ICD-10,Q33.0,NTBT +GARD:0021096,Orphanet,280847,Exact +GARD:0021096,ICD-10,Q33.0,NTBT +GARD:0021097,Orphanet,280854,Exact +GARD:0021097,ICD-10,Q33.0,NTBT +GARD:0021098,Orphanet,280914,Exact +GARD:0021098,ICD-10,H20.0,NTBT +GARD:0021098,ICD-10,H20.2,NTBT +GARD:0021098,ICD-10,H20.1,NTBT +GARD:0021098,ICD-10,H20.8,NTBT +GARD:0021098,ICD-10,H20.9,NTBT +GARD:0021098,UMLS,C0339315,Exact +GARD:0021098,SNOMED-CT,231947004,NA +GARD:0021099,SNOMED-CT,773991005,NA +GARD:0021099,Orphanet,280917,Exact +GARD:0021099,ICD-10,H30.9,NTBT +GARD:0021100,Orphanet,280921,Exact +GARD:0021100,ICD-10,H44.1,NTBT +GARD:0021100,SNOMED-CT,766933000,NA +GARD:0021101,Orphanet,280926,Exact +GARD:0021102,Orphanet,280930,Exact +GARD:0021103,Orphanet,280933,Exact +GARD:0021104,Orphanet,281082,Exact +GARD:0021104,ICD-11,EC20.0,Exact +GARD:0021105,Orphanet,281085,Exact +GARD:0021105,ICD-11,LD27.2,Exact +GARD:0021106,SNOMED-CT,402772005,NA +GARD:0021106,Orphanet,281097,Exact +GARD:0021106,ICD-11,EC20.02,Exact +GARD:0021107,Orphanet,281103,Exact +GARD:0021107,ICD-11,EC20.03,Exact +GARD:0021108,SNOMED-CT,718633009,NA +GARD:0021108,Orphanet,281127,Exact +GARD:0021108,ICD-10,Q80.2,NTBT +GARD:0021109,Orphanet,281210,Exact +GARD:0021109,ICD-10,Q80.1,NTBT +GARD:0021109,UMLS,C0079588,Exact +GARD:0021109,MedDRA,10048063,Exact +GARD:0021110,Orphanet,281217,Exact +GARD:0021111,Orphanet,281222,Exact +GARD:0021112,Orphanet,281238,Exact +GARD:0021113,Orphanet,281241,Exact +GARD:0021114,Orphanet,281244,Exact +GARD:0021115,Orphanet,282124,Exact +GARD:0021115,ICD-10,Q93.5,NTBT +GARD:0021116,SNOMED-CT,41864002,NA +GARD:0021116,Orphanet,282196,Exact +GARD:0021116,ICD-11,5B00,Exact +GARD:0021116,ICD-10,E31.0,NTBT +GARD:0021116,UMLS,C0085409,Exact +GARD:0021117,SNOMED-CT,782877002,NA +GARD:0021117,Orphanet,284180,Exact +GARD:0021117,ICD-10,Q99.8,NTBT +GARD:0021118,Orphanet,284362,Exact +GARD:0021118,ICD-10,C34.8,NTBT +GARD:0021119,Orphanet,284385,Exact +GARD:0021119,ICD-10,K83.1,NTBT +GARD:0021120,Orphanet,284395,Exact +GARD:0021120,ICD-10,C34.2,BTNT +GARD:0021120,ICD-10,C34.8,BTNT +GARD:0021120,ICD-10,C34.1,BTNT +GARD:0021120,ICD-10,C34.3,BTNT +GARD:0021120,SNOMED-CT,707403002,NA +GARD:0021121,Orphanet,284460,Exact +GARD:0021121,SNOMED-CT,783612007,NA +GARD:0021122,Orphanet,284786,Exact +GARD:0021123,Orphanet,284790,Exact +GARD:0021124,Orphanet,284804,Exact +GARD:0021124,UMLS,C0078917,Exact +GARD:0021124,ICD-10,E70.3,NTBT +GARD:0021124,MedDRA,10065276,Exact +GARD:0021125,Orphanet,284811,Exact +GARD:0021125,ICD-10,E70.3,NTBT +GARD:0021126,Orphanet,284814,Exact +GARD:0021126,ICD-10,E70.0,BTNT +GARD:0021126,UMLS,C0268461,Exact +GARD:0021126,ICD-10,E70.1,BTNT +GARD:0021127,Orphanet,284818,Exact +GARD:0021127,ICD-11,5C50.1,Exact +GARD:0021127,ICD-10,E70.2,Exact +GARD:0021128,SNOMED-CT,763839005,NA +GARD:0021128,Orphanet,284979,Exact +GARD:0021128,ICD-10,Q87.4,NTBT +GARD:0021129,Orphanet,284993,Exact +GARD:0021130,Orphanet,285014,Exact +GARD:0021130,ICD-10,I71.1,NTBT +GARD:0021130,ICD-10,I71.2,NTBT +GARD:0021131,Orphanet,285657,Exact +GARD:0021131,ICD-11,5C63.1,Exact +GARD:0021132,Orphanet,289098,Exact +GARD:0021133,Orphanet,289103,Exact +GARD:0021134,Orphanet,289266,Exact +GARD:0021134,OMIM,613971,Exact +GARD:0021134,ICD-10,E72.1,NTBT +GARD:0021134,SNOMED-CT,770431001,NA +GARD:0021135,SNOMED-CT,716790008,NA +GARD:0021135,Orphanet,289347,Exact +GARD:0021135,ICD-10,L30.3,NTBT +GARD:0021136,Orphanet,289356,Exact +GARD:0021136,ICD-10,C56,NTBT +GARD:0021136,SNOMED-CT,716588005,NA +GARD:0021137,Orphanet,289362,Exact +GARD:0021137,ICD-10,C22.7,NTBT +GARD:0021138,Orphanet,289385,Exact +GARD:0021138,ICD-10,Z34.8,NTBT +GARD:0021139,Orphanet,289478,Exact +GARD:0021139,SNOMED-CT,785724007,NA +GARD:0021140,Orphanet,289494,Exact +GARD:0021140,ICD-10,G93.8,NTBT +GARD:0021141,Orphanet,289513,Exact +GARD:0021141,ICD-10,Q93.5,NTBT +GARD:0021141,SNOMED-CT,734030009,NA +GARD:0021142,Orphanet,289522,Exact +GARD:0021142,ICD-10,Q99.8,NTBT +GARD:0021142,SNOMED-CT,770663003,NA +GARD:0021143,SNOMED-CT,764960005,NA +GARD:0021143,Orphanet,289548,Exact +GARD:0021143,ICD-10,E27.1,NTBT +GARD:0021144,SNOMED-CT,716590006,NA +GARD:0021144,Orphanet,289596,Exact +GARD:0021144,ICD-10,D10.6,NTBT +GARD:0021145,Orphanet,289635,Exact +GARD:0021146,Orphanet,289638,Exact +GARD:0021147,Orphanet,289644,Exact +GARD:0021147,MedDRA,10068349,Exact +GARD:0021147,UMLS,C2363744,Exact +GARD:0021148,Orphanet,289651,Exact +GARD:0021149,Orphanet,289656,Exact +GARD:0021150,Orphanet,289661,Exact +GARD:0021150,ICD-10,C83.3,NTBT +GARD:0021150,ICD-11,2A81.6,Exact +GARD:0021150,SNOMED-CT,716788007,NA +GARD:0021151,SNOMED-CT,764938007,NA +GARD:0021151,Orphanet,289682,Exact +GARD:0021151,ICD-10,C80.9,NTBT +GARD:0021152,Orphanet,289685,Exact +GARD:0021152,UMLS,C1302808,Exact +GARD:0021152,ICD-10,D21.9,NTBT +GARD:0021152,SNOMED-CT,1157159009,NA +GARD:0021153,Orphanet,289825,Exact +GARD:0021154,Orphanet,289829,Exact +GARD:0021154,ICD-10,E70.8,NTBT +GARD:0021154,ICD-11,5C50.3,Exact +GARD:0021155,Orphanet,289832,Exact +GARD:0021155,ICD-11,5C50.4,Exact +GARD:0021155,ICD-10,E72.3,Exact +GARD:0021156,Orphanet,289841,Exact +GARD:0021156,ICD-10,E72.8,NTBT +GARD:0021156,UMLS,C0342669,Exact +GARD:0021157,Orphanet,289866,Exact +GARD:0021157,ICD-10,E72.8,NTBT +GARD:0021157,ICD-11,5C50.8,Exact +GARD:0021158,SNOMED-CT,237928008,NA +GARD:0021158,Orphanet,289869,Exact +GARD:0021158,ICD-10,E72.4,Exact +GARD:0021158,ICD-11,5C50.9,Exact +GARD:0021158,UMLS,C0342690,Exact +GARD:0021159,SNOMED-CT,11225002,NA +GARD:0021159,Orphanet,289877,Exact +GARD:0021159,ICD-10,P74.8,NTBT +GARD:0021160,Orphanet,290836,Exact +GARD:0021161,Orphanet,290839,Exact +GARD:0021162,Orphanet,290842,Exact +GARD:0021163,Orphanet,290849,Exact +GARD:0021163,UMLS,C0018671,Exact +GARD:0021164,Orphanet,293173,Exact +GARD:0021164,UMLS,C0853331,Exact +GARD:0021164,MedDRA,10048799,Exact +GARD:0021164,UMLS,C0877055,Exact +GARD:0021164,SNOMED-CT,702617007,NA +GARD:0021165,Orphanet,293199,Exact +GARD:0021165,ICD-10,C49.9,NTBT +GARD:0021165,UMLS,C0334480,Exact +GARD:0021165,SNOMED-CT,404054005,NA +GARD:0021166,Orphanet,293284,Exact +GARD:0021166,ICD-10,E70.1,NTBT +GARD:0021167,Orphanet,293375,Exact +GARD:0021167,ICD-10,H18.5,NTBT +GARD:0021167,SNOMED-CT,717286002,NA +GARD:0021168,Orphanet,293462,Exact +GARD:0021168,ICD-10,H18.5,NTBT +GARD:0021168,SNOMED-CT,231934009,NA +GARD:0021168,UMLS,C0339282,Exact +GARD:0021169,Orphanet,293807,Exact +GARD:0021169,SNOMED-CT,726613003,NA +GARD:0021170,Orphanet,293812,Exact +GARD:0021170,MedDRA,10048796,Exact +GARD:0021170,UMLS,C0877391,Exact +GARD:0021170,SNOMED-CT,73692007,NA +GARD:0021171,Orphanet,293815,Exact +GARD:0021172,Orphanet,293830,Exact +GARD:0021172,ICD-11,3A73,Exact +GARD:0021172,ICD-10,D64.4,NTBT +GARD:0021173,SNOMED-CT,719600006,NA +GARD:0021173,Orphanet,293948,Exact +GARD:0021173,ICD-10,Q93.5,NTBT +GARD:0021174,SNOMED-CT,773665006,NA +GARD:0021174,Orphanet,293967,Exact +GARD:0021175,SNOMED-CT,783562005,NA +GARD:0021175,Orphanet,294026,Exact +GARD:0021175,ICD-10,Q92.3,NTBT +GARD:0021176,Orphanet,294057,Exact +GARD:0021176,UMLS,C0027960,Exact +GARD:0021177,Orphanet,294060,Exact +GARD:0021177,UMLS,C0265261,Exact +GARD:0021177,ICD-10,Q79.8,NTBT +GARD:0021177,SNOMED-CT,205819008,NA +GARD:0021177,ICD-11,LD26.40,Exact +GARD:0021178,Orphanet,294422,Exact +GARD:0021178,SNOMED-CT,716665002,NA +GARD:0021179,SNOMED-CT,62588002,NA +GARD:0021179,Orphanet,294925,Exact +GARD:0021179,UMLS,C0002447,Exact +GARD:0021179,ICD-10,Q73.0,Exact +GARD:0021179,MedDRA,10001926,Exact +GARD:0021180,Orphanet,294927,Exact +GARD:0021181,Orphanet,294944,Exact +GARD:0021181,MedDRA,10024500,Exact +GARD:0021181,UMLS,C0206762,Exact +GARD:0021182,Orphanet,294947,Exact +GARD:0021182,ICD-10,Q68.1,NTBT +GARD:0021183,Orphanet,294949,Exact +GARD:0021184,Orphanet,294951,Exact +GARD:0021185,Orphanet,294953,Exact +GARD:0021186,Orphanet,294955,Exact +GARD:0021187,Orphanet,294957,Exact +GARD:0021187,ICD-11,LD26.0,Exact +GARD:0021188,Orphanet,294959,Exact +GARD:0021188,ICD-11,LD26.2,Exact +GARD:0021189,SNOMED-CT,66783006,NA +GARD:0021189,Orphanet,294963,Exact +GARD:0021189,UMLS,C0265259,Exact +GARD:0021190,SNOMED-CT,205306000,NA +GARD:0021190,Orphanet,294967,Exact +GARD:0021190,ICD-10,Q71.0,Exact +GARD:0021191,Orphanet,294969,Exact +GARD:0021191,ICD-10,Q72.0,Exact +GARD:0021191,SNOMED-CT,265798000,NA +GARD:0021192,Orphanet,294973,Exact +GARD:0021192,ICD-11,LB99.1,Exact +GARD:0021192,ICD-10,Q71.8,NTBT +GARD:0021192,SNOMED-CT,93264003,NA +GARD:0021193,Orphanet,294977,Exact +GARD:0021193,ICD-10,Q72.1,Exact +GARD:0021193,ICD-11,LB9A.3,Exact +GARD:0021193,SNOMED-CT,55852007,NA +GARD:0021194,Orphanet,294979,Exact +GARD:0021194,UMLS,C1306663,Exact +GARD:0021194,ICD-11,LB99.5,Exact +GARD:0021194,ICD-10,Q71.2,Exact +GARD:0021194,SNOMED-CT,737217005,NA +GARD:0021195,SNOMED-CT,767001002,NA +GARD:0021195,Orphanet,294981,Exact +GARD:0021195,ICD-11,LB9A.7,Exact +GARD:0021195,ICD-10,Q72.2,Exact +GARD:0021196,Orphanet,294983,Exact +GARD:0021196,ICD-10,Q71.3,Exact +GARD:0021196,ICD-11,LB99.6,Exact +GARD:0021196,SNOMED-CT,371199008,NA +GARD:0021197,Orphanet,294986,Exact +GARD:0021197,UMLS,C0265624,Exact +GARD:0021197,SNOMED-CT,371197005,NA +GARD:0021197,ICD-11,LB9A.4,Exact +GARD:0021197,ICD-10,Q72.3,Exact +GARD:0021198,Orphanet,294988,Exact +GARD:0021198,ICD-10,Q71.3,NTBT +GARD:0021198,SNOMED-CT,253936008,NA +GARD:0021199,Orphanet,295002,Exact +GARD:0021199,ICD-11,LB77,Exact +GARD:0021199,ICD-10,Q74.8,NTBT +GARD:0021199,SNOMED-CT,763535005,NA +GARD:0021200,Orphanet,295004,Exact +GARD:0021200,UMLS,C0431903,Exact +GARD:0021200,ICD-10,Q69.0,NTBT +GARD:0021200,SNOMED-CT,205130008,NA +GARD:0021201,Orphanet,295012,Exact +GARD:0021201,ICD-10,Q70.1,NTBT +GARD:0021201,SNOMED-CT,763624007,NA +GARD:0021202,Orphanet,295014,Exact +GARD:0021202,SNOMED-CT,763691008,NA +GARD:0021202,ICD-10,Q68.1,NTBT +GARD:0021202,UMLS,C0265610,Exact +GARD:0021203,Orphanet,295018,Exact +GARD:0021203,SNOMED-CT,55379003,NA +GARD:0021203,ICD-10,Q74.2,NTBT +GARD:0021203,UMLS,C0265661,Exact +GARD:0021204,Orphanet,295020,Exact +GARD:0021204,ICD-10,Q74.2,NTBT +GARD:0021205,Orphanet,295022,Exact +GARD:0021205,ICD-10,Q74.2,NTBT +GARD:0021206,Orphanet,295024,Exact +GARD:0021206,ICD-10,Q74.0,NTBT +GARD:0021207,Orphanet,295026,Exact +GARD:0021207,ICD-10,Q74.0,NTBT +GARD:0021208,Orphanet,295028,Exact +GARD:0021208,ICD-10,Q74.2,NTBT +GARD:0021208,ICD-11,LB90.6,Exact +GARD:0021208,SNOMED-CT,737581000,NA +GARD:0021209,Orphanet,295030,Exact +GARD:0021209,ICD-11,LB91,Exact +GARD:0021209,ICD-10,Q68.8,NTBT +GARD:0021209,UMLS,C0265562,Exact +GARD:0021209,SNOMED-CT,23876003,NA +GARD:0021210,Orphanet,295032,Exact +GARD:0021210,ICD-10,Q68.8,NTBT +GARD:0021210,ICD-11,LB92,Exact +GARD:0021210,UMLS,C0265561,Exact +GARD:0021210,SNOMED-CT,9634000,NA +GARD:0021211,Orphanet,295034,Exact +GARD:0021211,UMLS,C0265669,Exact +GARD:0021211,ICD-10,Q68.2,NTBT +GARD:0021211,MedDRA,10010520,Exact +GARD:0021211,SNOMED-CT,59068006,NA +GARD:0021212,SNOMED-CT,253920006,NA +GARD:0021212,Orphanet,295049,Exact +GARD:0021212,ICD-10,Q74.0,NTBT +GARD:0021212,ICD-11,LB97.2,Exact +GARD:0021212,UMLS,C0575518,Exact +GARD:0021213,SNOMED-CT,205369009,NA +GARD:0021213,Orphanet,295051,Exact +GARD:0021213,ICD-11,LB97.3,Exact +GARD:0021213,ICD-10,Q74.2,NTBT +GARD:0021214,Orphanet,295189,Exact +GARD:0021214,ICD-10,Q70.2,ND (not yet decided/unable to decide) +GARD:0021214,ICD-10,Q70.3,ND (not yet decided/unable to decide) +GARD:0021214,ICD-10,Q70.1,ND (not yet decided/unable to decide) +GARD:0021214,ICD-10,Q70.0,ND (not yet decided/unable to decide) +GARD:0021215,Orphanet,295191,Exact +GARD:0021215,ICD-10,Q70.2,ND (not yet decided/unable to decide) +GARD:0021215,ICD-10,Q70.1,ND (not yet decided/unable to decide) +GARD:0021215,ICD-10,Q70.3,ND (not yet decided/unable to decide) +GARD:0021215,ICD-10,Q70.0,ND (not yet decided/unable to decide) +GARD:0021216,Orphanet,295193,Exact +GARD:0021216,ICD-10,Q70.3,NTBT +GARD:0021217,Orphanet,295201,Exact +GARD:0021217,ICD-10,Q66.8,NTBT +GARD:0021218,Orphanet,295203,Exact +GARD:0021218,ICD-10,Q66.8,NTBT +GARD:0021219,Orphanet,295213,Exact +GARD:0021219,ICD-10,Q74.0,NTBT +GARD:0021220,Orphanet,295215,Exact +GARD:0021220,ICD-10,Q74.0,NTBT +GARD:0021221,Orphanet,295217,Exact +GARD:0021221,ICD-10,Q74.0,NTBT +GARD:0021222,Orphanet,295219,Exact +GARD:0021222,ICD-10,Q74.0,NTBT +GARD:0021223,Orphanet,295225,Exact +GARD:0021223,ICD-10,Q68.8,NTBT +GARD:0021224,Orphanet,295227,Exact +GARD:0021224,ICD-10,Q68.8,NTBT +GARD:0021225,SNOMED-CT,205063003,NA +GARD:0021225,Orphanet,295229,Exact +GARD:0021225,ICD-10,Q68.2,NTBT +GARD:0021225,ICD-11,LB93.0,Exact +GARD:0021225,UMLS,C0152235,Exact +GARD:0021226,Orphanet,295232,Exact +GARD:0021226,ICD-11,LB93.1,Exact +GARD:0021226,ICD-10,Q68.2,NTBT +GARD:0021227,Orphanet,295239,Exact +GARD:0021227,ICD-10,Q74.0,NTBT +GARD:0021228,Orphanet,295241,Exact +GARD:0021228,ICD-10,Q74.0,NTBT +GARD:0021229,Orphanet,295243,Exact +GARD:0021229,ICD-10,Q74.2,NTBT +GARD:0021230,Orphanet,295245,Exact +GARD:0021230,ICD-10,Q74.2,NTBT +GARD:0021231,Orphanet,298644,Exact +GARD:0021232,SNOMED-CT,770794008,NA +GARD:0021232,Orphanet,300305,Exact +GARD:0021232,ICD-10,Q92.3,NTBT +GARD:0021233,Orphanet,300493,Exact +GARD:0021234,Orphanet,300512,Exact +GARD:0021234,ICD-10,D23.9,NTBT +GARD:0021234,SNOMED-CT,773629001,NA +GARD:0021235,Orphanet,300515,Exact +GARD:0021236,SNOMED-CT,771446000,NA +GARD:0021236,Orphanet,300552,Exact +GARD:0021237,Orphanet,300557,Exact +GARD:0021237,ICD-10,C24.1,NTBT +GARD:0021237,UMLS,C0262401,Exact +GARD:0021237,MedDRA,10048853,Exact +GARD:0021237,SNOMED-CT,254609000,NA +GARD:0021238,SNOMED-CT,708030004,NA +GARD:0021238,Orphanet,300564,Exact +GARD:0021238,ICD-10,J84.1,NTBT +GARD:0021238,ICD-11,CB03.1,Exact +GARD:0021239,Orphanet,300579,Exact +GARD:0021239,UMLS,C0854511,Exact +GARD:0021239,MedDRA,10041932,Exact +GARD:0021240,Orphanet,300755,Exact +GARD:0021241,Orphanet,300758,Exact +GARD:0021242,Orphanet,300763,Exact +GARD:0021243,Orphanet,300766,Exact +GARD:0021244,Orphanet,300842,Exact +GARD:0021245,Orphanet,300846,Exact +GARD:0021246,SNOMED-CT,734066005,NA +GARD:0021246,Orphanet,300849,Exact +GARD:0021246,ICD-10,C83.3,NTBT +GARD:0021247,Orphanet,300865,Exact +GARD:0021247,UMLS,C1301362,Exact +GARD:0021247,MedDRA,10065863,Exact +GARD:0021247,UMLS,C1698767,Exact +GARD:0021247,ICD-10,C86.6,NTBT +GARD:0021247,SNOMED-CT,128875000,NA +GARD:0021248,Orphanet,300869,Exact +GARD:0021248,ICD-10,C83.0,NTBT +GARD:0021248,SNOMED-CT,763884007,NA +GARD:0021249,Orphanet,300878,Exact +GARD:0021249,ICD-10,C91.4,NTBT +GARD:0021249,MedDRA,10019054,Exact +GARD:0021249,UMLS,C0349633,Exact +GARD:0021249,SNOMED-CT,277568007,NA +GARD:0021250,Orphanet,300888,Exact +GARD:0021250,ICD-10,C83.3,NTBT +GARD:0021250,SNOMED-CT,724647003,NA +GARD:0021251,Orphanet,300895,Exact +GARD:0021251,ICD-10,C84.6,Exact +GARD:0021252,Orphanet,300903,Exact +GARD:0021252,UMLS,C1332078,Exact +GARD:0021252,SNOMED-CT,448212009,NA +GARD:0021252,ICD-10,C84.7,Exact +GARD:0021253,Orphanet,304055,Exact +GARD:0021253,UMLS,C0032019,Exact +GARD:0021254,Orphanet,306516,Exact +GARD:0021254,ICD-10,E83.4,NTBT +GARD:0021255,Orphanet,306553,Exact +GARD:0021255,UMLS,C0027123,Exact +GARD:0021255,ICD-10,M79.8,NTBT +GARD:0021255,SNOMED-CT,81139004,NA +GARD:0021256,Orphanet,306633,Exact +GARD:0021256,UMLS,C0750952,Exact +GARD:0021257,Orphanet,306636,Exact +GARD:0021257,UMLS,C0023903,Exact +GARD:0021258,Orphanet,306640,Exact +GARD:0021259,Orphanet,306644,Exact +GARD:0021259,ICD-10,T86.8,BTNT +GARD:0021260,Orphanet,306648,Exact +GARD:0021260,UMLS,C0339317,Exact +GARD:0021260,SNOMED-CT,267619000,NA +GARD:0021261,Orphanet,306666,Exact +GARD:0021262,Orphanet,306669,Exact +GARD:0021262,ICD-10,G20,NTBT +GARD:0021262,SNOMED-CT,737582007,NA +GARD:0021263,Orphanet,306679,Exact +GARD:0021264,Orphanet,306682,Exact +GARD:0021264,ICD-11,NE61,NTBT +GARD:0021264,UMLS,C0677050,Exact +GARD:0021264,MedDRA,10058951,Exact +GARD:0021264,ICD-10,T57.2,Exact +GARD:0021264,SNOMED-CT,447288004,NA +GARD:0021265,Orphanet,306686,Exact +GARD:0021265,UMLS,C0393565,Exact +GARD:0021265,ICD-10,G21.2,NTBT +GARD:0021265,SNOMED-CT,230293003,NA +GARD:0021266,Orphanet,306692,Exact +GARD:0021266,SNOMED-CT,766872002,NA +GARD:0021266,ICD-10,G21.2,NTBT +GARD:0021267,Orphanet,306695,Exact +GARD:0021268,Orphanet,306708,Exact +GARD:0021269,Orphanet,306712,Exact +GARD:0021270,Orphanet,306715,Exact +GARD:0021270,UMLS,C0008489,Exact +GARD:0021271,Orphanet,306719,Exact +GARD:0021272,Orphanet,306727,Exact +GARD:0021273,Orphanet,306741,Exact +GARD:0021273,ICD-10,G24.8,NTBT +GARD:0021273,SNOMED-CT,724383002,NA +GARD:0021274,Orphanet,306747,Exact +GARD:0021275,Orphanet,306750,Exact +GARD:0021276,Orphanet,306753,Exact +GARD:0021277,Orphanet,306756,Exact +GARD:0021278,Orphanet,306759,Exact +GARD:0021279,Orphanet,306765,Exact +GARD:0021280,Orphanet,306768,Exact +GARD:0021281,Orphanet,306773,Exact +GARD:0021281,ICD-10,G25.8,NTBT +GARD:0021282,Orphanet,306776,Exact +GARD:0021282,ICD-10,G25.8,NTBT +GARD:0021282,SNOMED-CT,783705006,NA +GARD:0021283,Orphanet,307052,Exact +GARD:0021284,Orphanet,307055,Exact +GARD:0021285,Orphanet,307058,Exact +GARD:0021286,Orphanet,307061,Exact +GARD:0021287,Orphanet,307064,Exact +GARD:0021288,Orphanet,307067,Exact +GARD:0021289,Orphanet,307141,Exact +GARD:0021289,ICD-10,Q82.8,NTBT +GARD:0021289,UMLS,C0022584,Exact +GARD:0021289,ICD-11,EC20.30,Exact +GARD:0021290,Orphanet,307148,Exact +GARD:0021290,ICD-10,Q82.8,NTBT +GARD:0021290,UMLS,C0022584,Exact +GARD:0021291,Orphanet,307711,Exact +GARD:0021291,ICD-10,Q82.8,NTBT +GARD:0021292,Orphanet,307773,Exact +GARD:0021292,ICD-10,Q82.8,NTBT +GARD:0021293,Orphanet,307804,Exact +GARD:0021293,ICD-10,Q82.8,NTBT +GARD:0021294,Orphanet,307837,Exact +GARD:0021294,ICD-10,Q82.8,NTBT +GARD:0021294,ICD-11,EC20.31,Exact +GARD:0021295,Orphanet,307846,Exact +GARD:0021295,ICD-10,Q82.8,NTBT +GARD:0021296,Orphanet,307871,Exact +GARD:0021296,ICD-10,Q82.8,NTBT +GARD:0021297,SNOMED-CT,402773000,NA +GARD:0021297,Orphanet,307967,Exact +GARD:0021297,UMLS,C1274216,Exact +GARD:0021297,ICD-10,Q82.8,NTBT +GARD:0021298,Orphanet,307995,Exact +GARD:0021298,ICD-10,Q82.8,NTBT +GARD:0021299,Orphanet,308013,Exact +GARD:0021299,ICD-10,Q82.8,NTBT +GARD:0021299,UMLS,C1302839,Exact +GARD:0021299,SNOMED-CT,400115004,NA +GARD:0021300,Orphanet,308023,Exact +GARD:0021301,Orphanet,308031,Exact +GARD:0021302,Orphanet,308041,Exact +GARD:0021303,Orphanet,308407,Exact +GARD:0021303,UMLS,C0342707,Exact +GARD:0021303,ICD-11,5C50.C,Exact +GARD:0021304,Orphanet,308448,Exact +GARD:0021305,Orphanet,308451,Exact +GARD:0021305,ICD-10,E72.0,NTBT +GARD:0021306,Orphanet,308459,Exact +GARD:0021307,Orphanet,308463,Exact +GARD:0021307,UMLS,C0342744,Exact +GARD:0021307,ICD-10,E74.1,Exact +GARD:0021307,ICD-11,5C51.5,Exact +GARD:0021308,Orphanet,308467,Exact +GARD:0021308,ICD-11,5C51.4,Exact +GARD:0021308,ICD-10,E74.2,Exact +GARD:0021308,UMLS,C0342745,Exact +GARD:0021308,SNOMED-CT,237963003,NA +GARD:0021309,Orphanet,308520,Exact +GARD:0021309,ICD-10,E74.0,NTBT +GARD:0021310,Orphanet,308552,Exact +GARD:0021310,ICD-10,E74.0,NTBT +GARD:0021310,UMLS,C3888924,Exact +GARD:0021310,UMLS,C0751173,Exact +GARD:0021311,Orphanet,308993,Exact +GARD:0021311,UMLS,C0268418,Exact +GARD:0021311,SNOMED-CT,124322002,NA +GARD:0021312,Orphanet,308998,Exact +GARD:0021313,Orphanet,309001,Exact +GARD:0021314,Orphanet,309005,Exact +GARD:0021314,MedDRA,10061227,Exact +GARD:0021314,UMLS,C0154251,Exact +GARD:0021315,SNOMED-CT,124327008,NA +GARD:0021315,Orphanet,309025,Exact +GARD:0021315,UMLS,C0342731,Exact +GARD:0021315,MedDRA,10072221,Exact +GARD:0021315,UMLS,C1959626,Exact +GARD:0021316,Orphanet,309028,Exact +GARD:0021316,ICD-11,5C62,Exact +GARD:0021317,Orphanet,309115,Exact +GARD:0021317,ICD-11,5C52.01,Exact +GARD:0021317,ICD-10,E71.3,NTBT +GARD:0021318,Orphanet,309120,Exact +GARD:0021318,ICD-10,E71.3,NTBT +GARD:0021318,SNOMED-CT,82319005,NA +GARD:0021318,UMLS,C0268635,Exact +GARD:0021319,SNOMED-CT,124122005,NA +GARD:0021319,Orphanet,309127,Exact +GARD:0021319,ICD-10,E71.3,NTBT +GARD:0021319,UMLS,C1291230,Exact +GARD:0021320,Orphanet,309130,Exact +GARD:0021320,ICD-11,5C52.00,Exact +GARD:0021320,ICD-10,E71.3,NTBT +GARD:0021321,Orphanet,309133,Exact +GARD:0021321,ICD-10,E71.3,NTBT +GARD:0021322,Orphanet,309136,Exact +GARD:0021323,SNOMED-CT,33316007,NA +GARD:0021323,Orphanet,309152,Exact +GARD:0021323,ICD-10,E75.0,Exact +GARD:0021323,ICD-11,5C56.00,NTBT +GARD:0021323,UMLS,C0039373,Exact +GARD:0021323,UMLS,C0268274,Exact +GARD:0021324,Orphanet,309178,Exact +GARD:0021324,ICD-10,E75.0,NTBT +GARD:0021325,Orphanet,309185,Exact +GARD:0021325,ICD-10,E75.0,NTBT +GARD:0021326,Orphanet,309192,Exact +GARD:0021326,ICD-10,E75.0,NTBT +GARD:0021326,UMLS,C1848914,Exact +GARD:0021327,SNOMED-CT,238024005,NA +GARD:0021327,Orphanet,309239,Exact +GARD:0021327,UMLS,C2749283,Exact +GARD:0021327,ICD-10,E75.0,NTBT +GARD:0021327,UMLS,C1848916,Exact +GARD:0021328,Orphanet,309256,Exact +GARD:0021328,UMLS,C0751278,Exact +GARD:0021328,ICD-10,E75.2,NTBT +GARD:0021328,SNOMED-CT,47683004,NA +GARD:0021329,Orphanet,309263,Exact +GARD:0021329,ICD-10,E75.2,NTBT +GARD:0021329,SNOMED-CT,44359008,NA +GARD:0021329,UMLS,C0751276,Exact +GARD:0021330,SNOMED-CT,24326000,NA +GARD:0021330,Orphanet,309271,Exact +GARD:0021330,UMLS,C0751279,Exact +GARD:0021330,ICD-10,E75.2,NTBT +GARD:0021331,Orphanet,309294,Exact +GARD:0021331,MedDRA,10058800,Exact +GARD:0021331,ICD-10,E77.1,NTBT +GARD:0021331,SNOMED-CT,38795005,NA +GARD:0021332,Orphanet,309319,Exact +GARD:0021332,ICD-11,5C56.4,Exact +GARD:0021332,ICD-10,E77.8,NTBT +GARD:0021332,UMLS,C0342851,Exact +GARD:0021333,Orphanet,309337,Exact +GARD:0021333,ICD-10,E74.0,NTBT +GARD:0021334,Orphanet,309340,Exact +GARD:0021335,Orphanet,309347,Exact +GARD:0021335,ICD-11,5C54.0,Exact +GARD:0021335,ICD-10,E77.8,NTBT +GARD:0021336,Orphanet,309447,Exact +GARD:0021336,ICD-10,E77.8,NTBT +GARD:0021336,ICD-11,5C54.1,Exact +GARD:0021337,Orphanet,309450,Exact +GARD:0021337,ICD-10,E77.8,NTBT +GARD:0021338,Orphanet,309458,Exact +GARD:0021338,ICD-10,E77.8,NTBT +GARD:0021339,Orphanet,309463,Exact +GARD:0021339,ICD-10,E77.8,NTBT +GARD:0021340,Orphanet,309469,Exact +GARD:0021340,ICD-10,E77.8,NTBT +GARD:0021341,Orphanet,309505,Exact +GARD:0021341,ICD-10,E77.8,NTBT +GARD:0021342,Orphanet,309515,Exact +GARD:0021342,ICD-10,E77.8,NTBT +GARD:0021343,Orphanet,309526,Exact +GARD:0021343,ICD-10,E77.8,NTBT +GARD:0021343,ICD-11,5C54.2,Exact +GARD:0021344,Orphanet,309568,Exact +GARD:0021344,ICD-10,E77.8,NTBT +GARD:0021345,Orphanet,309778,Exact +GARD:0021345,ICD-10,E77.8,NTBT +GARD:0021346,Orphanet,309813,Exact +GARD:0021346,ICD-10,E80.4,BTNT +GARD:0021346,ICD-10,E80.1,BTNT +GARD:0021346,ICD-10,E80.5,BTNT +GARD:0021346,ICD-10,E80.6,BTNT +GARD:0021346,ICD-10,E80.0,BTNT +GARD:0021346,ICD-10,E80.7,BTNT +GARD:0021346,ICD-10,E80.2,BTNT +GARD:0021346,ICD-10,E80.3,BTNT +GARD:0021347,Orphanet,309816,Exact +GARD:0021348,Orphanet,309819,Exact +GARD:0021348,ICD-11,5C59.01,Exact +GARD:0021349,Orphanet,309824,Exact +GARD:0021350,Orphanet,309827,Exact +GARD:0021351,Orphanet,309830,Exact +GARD:0021351,UMLS,C0342685,Exact +GARD:0021351,ICD-11,5C59.00,Exact +GARD:0021351,SNOMED-CT,237921002,NA +GARD:0021352,Orphanet,309833,Exact +GARD:0021353,Orphanet,309836,Exact +GARD:0021354,Orphanet,309839,Exact +GARD:0021354,MedDRA,10061091,Exact +GARD:0021354,ICD-11,5C64.0,Exact +GARD:0021354,UMLS,C0012714,Exact +GARD:0021354,ICD-10,E83.0,Exact +GARD:0021355,Orphanet,309842,Exact +GARD:0021355,ICD-10,E83.1,Exact +GARD:0021356,Orphanet,309845,Exact +GARD:0021356,ICD-10,E83.2,Exact +GARD:0021356,MedDRA,10048260,Exact +GARD:0021356,UMLS,C0268085,Exact +GARD:0021357,Orphanet,309848,Exact +GARD:0021357,ICD-10,E83.4,NTBT +GARD:0021358,Orphanet,309851,Exact +GARD:0021358,ICD-10,E83.8,NTBT +GARD:0021359,Orphanet,310050,Exact +GARD:0021359,UMLS,C0001175,Exact +GARD:0021360,Orphanet,313781,Exact +GARD:0021360,ICD-10,Q93.5,NTBT +GARD:0021360,SNOMED-CT,773346008,NA +GARD:0021361,Orphanet,313906,Exact +GARD:0021361,SNOMED-CT,204808002,NA +GARD:0021361,ICD-10,Q45.2,Exact +GARD:0021361,UMLS,C0341480,Exact +GARD:0021361,ICD-11,LB21.Y,NTBT +GARD:0021362,Orphanet,313920,Exact +GARD:0021362,SNOMED-CT,716586009,NA +GARD:0021362,ICD-10,C16.0,NTBT +GARD:0021362,ICD-10,C16.2,NTBT +GARD:0021363,Orphanet,313947,Exact +GARD:0021363,ICD-10,Q92.3,NTBT +GARD:0021363,SNOMED-CT,766816008,NA +GARD:0021364,Orphanet,314002,Exact +GARD:0021364,SNOMED-CT,773626008,NA +GARD:0021365,SNOMED-CT,773994002,NA +GARD:0021365,Orphanet,314017,Exact +GARD:0021365,ICD-10,H16.3,NTBT +GARD:0021366,SNOMED-CT,782781006,NA +GARD:0021366,Orphanet,314029,Exact +GARD:0021366,ICD-10,Q78.0,NTBT +GARD:0021367,Orphanet,314034,Exact +GARD:0021367,ICD-10,Q92.3,NTBT +GARD:0021367,SNOMED-CT,764703002,NA +GARD:0021368,Orphanet,314041,Exact +GARD:0021368,SNOMED-CT,782780007,NA +GARD:0021369,Orphanet,314389,Exact +GARD:0021369,ICD-10,Q99.8,NTBT +GARD:0021369,SNOMED-CT,764711007,NA +GARD:0021370,Orphanet,314425,Exact +GARD:0021371,Orphanet,314432,Exact +GARD:0021371,ICD-10,K43.6,NTBT +GARD:0021371,SNOMED-CT,773623000,NA +GARD:0021372,SNOMED-CT,63402005,NA +GARD:0021372,Orphanet,314451,Exact +GARD:0021372,MedDRA,10027139,Exact +GARD:0021372,UMLS,C0025184,Exact +GARD:0021372,ICD-10,D27,NTBT +GARD:0021373,SNOMED-CT,783138008,NA +GARD:0021373,Orphanet,314459,Exact +GARD:0021373,ICD-10,D39.1,NTBT +GARD:0021374,Orphanet,314466,Exact +GARD:0021374,ICD-10,D27,NTBT +GARD:0021374,SNOMED-CT,782774004,NA +GARD:0021375,SNOMED-CT,254865006,NA +GARD:0021375,Orphanet,314473,Exact +GARD:0021375,ICD-10,D27,NTBT +GARD:0021375,MedDRA,10064257,Exact +GARD:0021375,UMLS,C0149951,Exact +GARD:0021376,Orphanet,314478,Exact +GARD:0021376,ICD-10,D27,NTBT +GARD:0021376,SNOMED-CT,765190005,NA +GARD:0021377,SNOMED-CT,723124007,NA +GARD:0021377,Orphanet,314566,Exact +GARD:0021377,ICD-10,G31.8,NTBT +GARD:0021378,Orphanet,314572,Exact +GARD:0021378,ICD-10,I67.8,NTBT +GARD:0021378,SNOMED-CT,771476007,NA +GARD:0021379,Orphanet,314575,Exact +GARD:0021379,SNOMED-CT,773621003,NA +GARD:0021380,Orphanet,314613,Exact +GARD:0021380,ICD-10,D48.7,NTBT +GARD:0021381,SNOMED-CT,778005007,NA +GARD:0021381,Orphanet,314621,Exact +GARD:0021381,ICD-10,Q89.2,NTBT +GARD:0021382,SNOMED-CT,722292000,NA +GARD:0021382,Orphanet,314652,Exact +GARD:0021382,ICD-10,E85.1,NTBT +GARD:0021383,Orphanet,314655,Exact +GARD:0021383,ICD-10,Q93.5,NTBT +GARD:0021383,SNOMED-CT,768555009,NA +GARD:0021384,SNOMED-CT,787094005,NA +GARD:0021384,Orphanet,314662,Exact +GARD:0021385,Orphanet,314684,Exact +GARD:0021385,ICD-10,C85.7,NTBT +GARD:0021385,SNOMED-CT,766935007,NA +GARD:0021386,Orphanet,314697,Exact +GARD:0021386,UMLS,C0151860,Exact +GARD:0021386,ICD-10,G93.0,NTBT +GARD:0021386,SNOMED-CT,38837006,NA +GARD:0021387,Orphanet,314709,Exact +GARD:0021387,ICD-10,E85.4,Exact +GARD:0021387,ICD-11,5D00.0,NTBT +GARD:0021388,Orphanet,314749,Exact +GARD:0021389,Orphanet,314753,Exact +GARD:0021389,UMLS,C0854486,Exact +GARD:0021390,SNOMED-CT,254961003,NA +GARD:0021390,Orphanet,314759,Exact +GARD:0021390,UMLS,C0346305,Exact +GARD:0021391,SNOMED-CT,778046002,NA +GARD:0021391,Orphanet,314769,Exact +GARD:0021391,ICD-10,D35.2,NTBT +GARD:0021392,Orphanet,314786,Exact +GARD:0021392,ICD-10,D35.2,NTBT +GARD:0021393,Orphanet,314790,Exact +GARD:0021393,ICD-10,D35.2,NTBT +GARD:0021394,Orphanet,314889,Exact +GARD:0021394,ICD-10,N25.8,NTBT +GARD:0021395,Orphanet,314950,Exact +GARD:0021395,ICD-10,D47.5,NTBT +GARD:0021396,Orphanet,314962,Exact +GARD:0021396,ICD-10,D47.5,NTBT +GARD:0021397,Orphanet,314970,Exact +GARD:0021397,ICD-10,D47.5,NTBT +GARD:0021398,Orphanet,315306,Exact +GARD:0021398,ICD-10,E25.0,NTBT +GARD:0021399,Orphanet,315311,Exact +GARD:0021399,ICD-10,E25.0,NTBT +GARD:0021400,Orphanet,315350,Exact +GARD:0021401,Orphanet,316226,Exact +GARD:0021401,UMLS,C1849156,Exact +GARD:0021401,ICD-10,G11.4,NTBT +GARD:0021402,Orphanet,316235,Exact +GARD:0021402,ICD-10,G11.4,NTBT +GARD:0021403,Orphanet,316240,Exact +GARD:0021403,ICD-10,G11.8,NTBT +GARD:0021404,Orphanet,316244,Exact +GARD:0021404,ICD-10,Q93.5,NTBT +GARD:0021405,Orphanet,317416,Exact +GARD:0021405,ICD-11,4A01.10,NTBT +GARD:0021405,ICD-10,D81.2,Exact +GARD:0021406,Orphanet,317419,Exact +GARD:0021406,ICD-11,4A01.10,NTBT +GARD:0021406,ICD-10,D81.1,Exact +GARD:0021407,SNOMED-CT,766871009,NA +GARD:0021407,Orphanet,319192,Exact +GARD:0021407,ICD-10,Q04.8,NTBT +GARD:0021408,SNOMED-CT,763134002,NA +GARD:0021408,Orphanet,319195,Exact +GARD:0021408,ICD-10,Q77.6,NTBT +GARD:0021409,Orphanet,319205,Exact +GARD:0021409,ICD-10,E27.4,NTBT +GARD:0021410,SNOMED-CT,716585008,NA +GARD:0021410,Orphanet,319213,Exact +GARD:0021410,ICD-10,A96.8,NTBT +GARD:0021411,SNOMED-CT,58868000,NA +GARD:0021411,Orphanet,319223,Exact +GARD:0021411,ICD-10,A96.0,Exact +GARD:0021411,ICD-11,1D61.0,Exact +GARD:0021411,UMLS,C0019097,Exact +GARD:0021412,SNOMED-CT,67247008,NA +GARD:0021412,Orphanet,319229,Exact +GARD:0021412,MedDRA,10005932,Exact +GARD:0021412,UMLS,C0282192,Exact +GARD:0021412,ICD-10,A96.1,Exact +GARD:0021412,ICD-11,1D61.1,Exact +GARD:0021413,SNOMED-CT,359673001,NA +GARD:0021413,Orphanet,319234,Exact +GARD:0021413,UMLS,C0042470,Exact +GARD:0021413,ICD-10,A96.8,NTBT +GARD:0021414,SNOMED-CT,240524001,NA +GARD:0021414,Orphanet,319239,Exact +GARD:0021414,UMLS,C0343633,Exact +GARD:0021414,ICD-10,A96.8,NTBT +GARD:0021415,Orphanet,319244,Exact +GARD:0021415,ICD-10,A96.8,NTBT +GARD:0021415,SNOMED-CT,716584007,NA +GARD:0021416,SNOMED-CT,402917003,NA +GARD:0021416,Orphanet,319251,Exact +GARD:0021416,UMLS,C0035613,Exact +GARD:0021416,MedDRA,10039143,Exact +GARD:0021416,ICD-10,A92.4,Exact +GARD:0021416,ICD-11,1D44,Exact +GARD:0021417,Orphanet,319287,Exact +GARD:0021417,ICD-10,C64,NTBT +GARD:0021418,Orphanet,319322,Exact +GARD:0021418,ICD-10,C64,NTBT +GARD:0021418,SNOMED-CT,764990003,NA +GARD:0021419,SNOMED-CT,733603009,NA +GARD:0021419,Orphanet,319325,Exact +GARD:0021419,ICD-10,C64,NTBT +GARD:0021420,Orphanet,319328,Exact +GARD:0021421,Orphanet,319494,Exact +GARD:0021421,ICD-10,C73,NTBT +GARD:0021422,Orphanet,319535,Exact +GARD:0021422,ICD-10,D84.8,NTBT +GARD:0021423,Orphanet,319539,Exact +GARD:0021423,ICD-10,D84.8,NTBT +GARD:0021424,Orphanet,319543,Exact +GARD:0021424,ICD-10,D84.8,NTBT +GARD:0021425,Orphanet,319589,Exact +GARD:0021425,ICD-10,D84.8,NTBT +GARD:0021425,SNOMED-CT,725151007,NA +GARD:0021426,Orphanet,319667,Exact +GARD:0021426,ICD-10,C85.7,NTBT +GARD:0021426,SNOMED-CT,763477007,NA +GARD:0021427,Orphanet,319719,Exact +GARD:0021428,Orphanet,320332,Exact +GARD:0021428,ICD-10,G11.4,NTBT +GARD:0021429,Orphanet,320335,Exact +GARD:0021429,ICD-10,G11.4,NTBT +GARD:0021430,Orphanet,320342,Exact +GARD:0021430,ICD-10,G11.4,NTBT +GARD:0021431,Orphanet,320346,Exact +GARD:0021431,ICD-10,G11.4,NTBT +GARD:0021432,Orphanet,320350,Exact +GARD:0021432,ICD-10,G11.4,NTBT +GARD:0021433,Orphanet,320360,Exact +GARD:0021433,ICD-10,G11.4,NTBT +GARD:0021433,SNOMED-CT,778048001,NA +GARD:0021434,Orphanet,322126,Exact +GARD:0021435,Orphanet,324299,Exact +GARD:0021435,ICD-10,D75.1,NTBT +GARD:0021436,Orphanet,324307,Exact +GARD:0021436,ICD-10,Q68.4,NTBT +GARD:0021436,SNOMED-CT,766819001,NA +GARD:0021437,SNOMED-CT,764725008,NA +GARD:0021437,Orphanet,324313,Exact +GARD:0021437,ICD-10,Q93.5,NTBT +GARD:0021438,SNOMED-CT,734031008,NA +GARD:0021438,Orphanet,324353,Exact +GARD:0021438,ICD-10,H47.4,NTBT +GARD:0021439,SNOMED-CT,783723003,NA +GARD:0021439,Orphanet,324364,Exact +GARD:0021439,ICD-10,M85.8,NTBT +GARD:0021440,SNOMED-CT,770786001,NA +GARD:0021440,Orphanet,324381,Exact +GARD:0021440,ICD-10,G71.8,NTBT +GARD:0021441,SNOMED-CT,773584001,NA +GARD:0021441,Orphanet,324416,Exact +GARD:0021442,Orphanet,324525,Exact +GARD:0021442,ICD-10,E88.8,NTBT +GARD:0021442,SNOMED-CT,771509001,NA +GARD:0021443,SNOMED-CT,773583007,NA +GARD:0021443,Orphanet,324540,Exact +GARD:0021443,ICD-10,Q87.0,NTBT +GARD:0021444,Orphanet,324575,Exact +GARD:0021444,ICD-10,E16.1,NTBT +GARD:0021444,SNOMED-CT,721234004,NA +GARD:0021445,Orphanet,324581,Exact +GARD:0021445,ICD-10,G71.2,NTBT +GARD:0021445,SNOMED-CT,770787005,NA +GARD:0021446,SNOMED-CT,778003000,NA +GARD:0021446,Orphanet,324585,Exact +GARD:0021446,ICD-10,G60.0,NTBT +GARD:0021447,Orphanet,324611,Exact +GARD:0021447,ICD-10,G60.0,NTBT +GARD:0021447,SNOMED-CT,764730007,NA +GARD:0021448,SNOMED-CT,773582002,NA +GARD:0021448,Orphanet,324632,Exact +GARD:0021448,ICD-10,B33.8,NTBT +GARD:0021449,Orphanet,324648,Exact +GARD:0021449,ICD-10,A02.8,BTNT +GARD:0021449,ICD-10,A02.9,BTNT +GARD:0021449,ICD-10,A02.2,BTNT +GARD:0021449,ICD-10,A02.1,BTNT +GARD:0021449,ICD-10,A02.0,BTNT +GARD:0021449,SNOMED-CT,763772002,NA +GARD:0021450,Orphanet,324761,Exact +GARD:0021450,ICD-10,Q87.1,NTBT +GARD:0021451,Orphanet,324764,Exact +GARD:0021451,UMLS,C0265255,Exact +GARD:0021451,ICD-10,Q87.8,NTBT +GARD:0021452,Orphanet,324767,Exact +GARD:0021453,Orphanet,324924,Exact +GARD:0021453,ICD-10,E85.0,NTBT +GARD:0021454,Orphanet,324927,Exact +GARD:0021455,Orphanet,324930,Exact +GARD:0021456,Orphanet,324933,Exact +GARD:0021457,Orphanet,324936,Exact +GARD:0021458,Orphanet,324939,Exact +GARD:0021458,ICD-10,E85.0,NTBT +GARD:0021459,Orphanet,324942,Exact +GARD:0021460,Orphanet,324950,Exact +GARD:0021461,Orphanet,324953,Exact +GARD:0021462,Orphanet,324960,Exact +GARD:0021462,ICD-10,E85.0,NTBT +GARD:0021463,Orphanet,325055,Exact +GARD:0021464,Orphanet,325061,Exact +GARD:0021465,Orphanet,325093,Exact +GARD:0021465,ICD-10,Q56.2,NTBT +GARD:0021466,Orphanet,325099,Exact +GARD:0021466,ICD-10,Q56.2,NTBT +GARD:0021467,Orphanet,325109,Exact +GARD:0021468,Orphanet,325118,Exact +GARD:0021469,Orphanet,325345,Exact +GARD:0021469,ICD-11,LD2A.0,Exact +GARD:0021469,ICD-10,Q56.0,NTBT +GARD:0021469,SNOMED-CT,763683004,NA +GARD:0021470,Orphanet,325351,Exact +GARD:0021471,Orphanet,325357,Exact +GARD:0021472,Orphanet,325511,Exact +GARD:0021473,Orphanet,325524,Exact +GARD:0021473,ICD-10,E25.0,NTBT +GARD:0021474,Orphanet,325529,Exact +GARD:0021474,ICD-10,E25.0,NTBT +GARD:0021475,Orphanet,325537,Exact +GARD:0021476,Orphanet,325546,Exact +GARD:0021476,UMLS,C2936421,Exact +GARD:0021477,Orphanet,325620,Exact +GARD:0021478,Orphanet,325632,Exact +GARD:0021479,Orphanet,325638,Exact +GARD:0021480,Orphanet,325665,Exact +GARD:0021481,Orphanet,325690,Exact +GARD:0021482,Orphanet,325697,Exact +GARD:0021482,UMLS,C2936403,Exact +GARD:0021483,Orphanet,325706,Exact +GARD:0021484,Orphanet,325713,Exact +GARD:0021485,SNOMED-CT,192759008,NA +GARD:0021485,Orphanet,329217,Exact +GARD:0021485,ICD-10,I67.6,NTBT +GARD:0021486,SNOMED-CT,783556000,NA +GARD:0021486,Orphanet,329249,Exact +GARD:0021486,ICD-10,E66.8,NTBT +GARD:0021487,Orphanet,329319,Exact +GARD:0021487,ICD-10,Q87.2,NTBT +GARD:0021487,SNOMED-CT,771511005,NA +GARD:0021488,Orphanet,329324,Exact +GARD:0021488,ICD-10,Q87.2,NTBT +GARD:0021489,Orphanet,329329,Exact +GARD:0021489,ICD-10,Q04.3,NTBT +GARD:0021489,UMLS,C1853215,Exact +GARD:0021489,SNOMED-CT,773394007,NA +GARD:0021490,Orphanet,329469,Exact +GARD:0021490,ICD-10,C94.2,NTBT +GARD:0021491,Orphanet,329475,Exact +GARD:0021491,ICD-10,G11.4,NTBT +GARD:0021491,SNOMED-CT,726622002,NA +GARD:0021492,SNOMED-CT,770792007,NA +GARD:0021492,Orphanet,329478,Exact +GARD:0021492,ICD-10,G71.0,NTBT +GARD:0021493,SNOMED-CT,783149002,NA +GARD:0021493,Orphanet,329813,Exact +GARD:0021494,Orphanet,329874,Exact +GARD:0021494,ICD-10,I40.1,NTBT +GARD:0021495,Orphanet,329883,Exact +GARD:0021495,ICD-10,K29.6,NTBT +GARD:0021495,SNOMED-CT,773397000,NA +GARD:0021496,Orphanet,329888,Exact +GARD:0021497,Orphanet,329894,Exact +GARD:0021497,ICD-10,M33.0,NTBT +GARD:0021497,SNOMED-CT,766252004,NA +GARD:0021498,Orphanet,329942,Exact +GARD:0021498,ICD-10,E71.3,NTBT +GARD:0021498,SNOMED-CT,723552005,NA +GARD:0021499,SNOMED-CT,711286009,NA +GARD:0021499,Orphanet,329967,Exact +GARD:0021499,ICD-11,FA27.4,Exact +GARD:0021499,ICD-10,M12.4,Exact +GARD:0021500,Orphanet,329977,Exact +GARD:0021500,ICD-10,D37.3,NTBT +GARD:0021501,Orphanet,330001,Exact +GARD:0021501,ICD-10,E85.8,NTBT +GARD:0021501,SNOMED-CT,237877004,NA +GARD:0021502,SNOMED-CT,233707008,NA +GARD:0021502,Orphanet,330012,Exact +GARD:0021502,UMLS,C0340100,Exact +GARD:0021502,ICD-10,J81,NTBT +GARD:0021503,Orphanet,330015,Exact +GARD:0021503,UMLS,C0023176,Exact +GARD:0021503,ICD-11,NE61,NTBT +GARD:0021503,ICD-10,T56.0,Exact +GARD:0021503,SNOMED-CT,1145155005,NA +GARD:0021504,SNOMED-CT,783555001,NA +GARD:0021504,Orphanet,330029,Exact +GARD:0021504,ICD-10,H90.5,NTBT +GARD:0021505,Orphanet,330032,Exact +GARD:0021505,ICD-10,D56.8,NTBT +GARD:0021506,Orphanet,330064,Exact +GARD:0021506,UMLS,C0282309,Exact +GARD:0021506,UMLS,C1510437,Exact +GARD:0021506,ICD-10,L57.1,Exact +GARD:0021506,SNOMED-CT,52636001,NA +GARD:0021507,Orphanet,330206,Exact +GARD:0021508,Orphanet,331184,Exact +GARD:0021509,Orphanet,331193,Exact +GARD:0021510,Orphanet,331217,Exact +GARD:0021511,Orphanet,331220,Exact +GARD:0021511,ICD-10,D81.4,NTBT +GARD:0021512,Orphanet,331232,Exact +GARD:0021513,Orphanet,331240,Exact +GARD:0021514,Orphanet,331244,Exact +GARD:0021514,ICD-10,D80.8,Exact +GARD:0021515,Orphanet,331249,Exact +GARD:0021516,Orphanet,352301,Exact +GARD:0021517,Orphanet,352306,Exact +GARD:0021518,Orphanet,352309,Exact +GARD:0021519,Orphanet,352312,Exact +GARD:0021520,Orphanet,352456,Exact +GARD:0021521,Orphanet,352530,Exact +GARD:0021521,ICD-10,Q04.8,NTBT +GARD:0021521,SNOMED-CT,763350002,NA +GARD:0021522,SNOMED-CT,765089003,NA +GARD:0021522,Orphanet,352587,Exact +GARD:0021522,ICD-10,Q04.8,NTBT +GARD:0021523,SNOMED-CT,770760006,NA +GARD:0021523,Orphanet,352629,Exact +GARD:0021523,ICD-10,Q93.5,NTBT +GARD:0021524,Orphanet,352636,Exact +GARD:0021524,SNOMED-CT,770761005,NA +GARD:0021524,ICD-10,M89.5,NTBT +GARD:0021525,Orphanet,352641,Exact +GARD:0021525,ICD-10,G11.8,NTBT +GARD:0021525,SNOMED-CT,763348005,NA +GARD:0021526,Orphanet,352665,Exact +GARD:0021526,ICD-10,Q93.5,NTBT +GARD:0021527,SNOMED-CT,720520009,NA +GARD:0021527,Orphanet,352723,Exact +GARD:0021527,ICD-10,E70.3,NTBT +GARD:0021528,Orphanet,352728,Exact +GARD:0021529,Orphanet,352734,Exact +GARD:0021529,ICD-10,E70.3,NTBT +GARD:0021530,Orphanet,353334,Exact +GARD:0021530,ICD-10,Q14.1,NTBT +GARD:0021531,Orphanet,353344,Exact +GARD:0021531,ICD-10,H35.5,NTBT +GARD:0021531,SNOMED-CT,773993008,NA +GARD:0021532,Orphanet,353351,Exact +GARD:0021532,ICD-10,H35.5,NTBT +GARD:0021532,SNOMED-CT,773992003,NA +GARD:0021533,Orphanet,353356,Exact +GARD:0021533,ICD-10,D31.2,NTBT +GARD:0021533,SNOMED-CT,771235001,NA +GARD:0021534,SNOMED-CT,778000002,NA +GARD:0021534,Orphanet,356947,Exact +GARD:0021534,ICD-10,Q93.5,NTBT +GARD:0021535,Orphanet,357107,Exact +GARD:0021535,ICD-10,G54.0,NTBT +GARD:0021535,UMLS,C1956395,Exact +GARD:0021536,Orphanet,357131,Exact +GARD:0021536,ICD-10,G54.0,NTBT +GARD:0021536,UMLS,C1956396,Exact +GARD:0021537,Orphanet,357220,Exact +GARD:0021537,ICD-10,Q82.8,NTBT +GARD:0021537,SNOMED-CT,765135003,NA +GARD:0021538,SNOMED-CT,778044004,NA +GARD:0021538,Orphanet,357225,Exact +GARD:0021538,ICD-10,Q82.8,NTBT +GARD:0021539,Orphanet,357502,Exact +GARD:0021539,UMLS,C3496337,Exact +GARD:0021540,Orphanet,357506,Exact +GARD:0021541,Orphanet,363189,Exact +GARD:0021541,UMLS,C0158632,Exact +GARD:0021542,Orphanet,363203,Exact +GARD:0021543,Orphanet,363245,Exact +GARD:0021543,ICD-10,E34.8,NTBT +GARD:0021544,Orphanet,363250,Exact +GARD:0021545,Orphanet,363294,Exact +GARD:0021546,Orphanet,363300,Exact +GARD:0021547,Orphanet,363306,Exact +GARD:0021548,Orphanet,363314,Exact +GARD:0021548,ICD-10,D12.6,NTBT +GARD:0021548,UMLS,C2713443,Exact +GARD:0021549,Orphanet,363472,Exact +GARD:0021550,SNOMED-CT,783056006,NA +GARD:0021550,Orphanet,363478,Exact +GARD:0021550,ICD-10,C63.1,BTNT +GARD:0021550,ICD-10,C63.2,BTNT +GARD:0021550,ICD-10,C63.8,BTNT +GARD:0021550,ICD-10,C63.0,BTNT +GARD:0021550,ICD-10,C63.7,BTNT +GARD:0021551,Orphanet,363489,Exact +GARD:0021551,ICD-10,C62.1,BTNT +GARD:0021551,ICD-10,D40.1,BTNT +GARD:0021552,Orphanet,363549,Exact +GARD:0021552,SNOMED-CT,766044005,NA +GARD:0021552,ICD-10,G40.4,NTBT +GARD:0021553,Orphanet,363567,Exact +GARD:0021554,Orphanet,363582,Exact +GARD:0021555,Orphanet,363618,Exact +GARD:0021555,SNOMED-CT,773426004,NA +GARD:0021555,ICD-10,E34.8,NTBT +GARD:0021556,Orphanet,363659,Exact +GARD:0021556,ICD-10,Q93.5,NTBT +GARD:0021556,SNOMED-CT,763061004,NA +GARD:0021557,SNOMED-CT,770756008,NA +GARD:0021557,Orphanet,363680,Exact +GARD:0021557,ICD-10,Q93.5,NTBT +GARD:0021558,Orphanet,363746,Exact +GARD:0021558,SNOMED-CT,765212008,NA +GARD:0021558,ICD-10,H51.8,NTBT +GARD:0021558,UMLS,C0270706,Exact +GARD:0021559,Orphanet,363965,Exact +GARD:0021559,ICD-10,Q93.5,NTBT +GARD:0021560,SNOMED-CT,776087007,NA +GARD:0021560,Orphanet,363969,Exact +GARD:0021560,ICD-10,G31.8,NTBT +GARD:0021561,Orphanet,364013,Exact +GARD:0021561,ICD-11,KA85.0,Exact +GARD:0021561,ICD-10,P56.0,Exact +GARD:0021561,UMLS,C0455990,Exact +GARD:0021562,SNOMED-CT,721311006,NA +GARD:0021562,Orphanet,364033,Exact +GARD:0021562,ICD-10,D47.9,NTBT +GARD:0021563,Orphanet,364039,Exact +GARD:0021563,ICD-10,C84.5,NTBT +GARD:0021563,SNOMED-CT,763719001,NA +GARD:0021564,SNOMED-CT,715950008,NA +GARD:0021564,Orphanet,364043,Exact +GARD:0021564,ICD-10,C83.3,NTBT +GARD:0021565,SNOMED-CT,716663009,NA +GARD:0021565,Orphanet,364055,Exact +GARD:0021565,ICD-10,H35.5,NTBT +GARD:0021565,UMLS,C1858080,Exact +GARD:0021566,SNOMED-CT,763128009,NA +GARD:0021566,Orphanet,364198,Exact +GARD:0021566,ICD-10,Q66.8,NTBT +GARD:0021567,Orphanet,364526,Exact +GARD:0021568,Orphanet,364531,Exact +GARD:0021569,Orphanet,364536,Exact +GARD:0021570,Orphanet,364541,Exact +GARD:0021570,UMLS,C2748918,Exact +GARD:0021571,Orphanet,364559,Exact +GARD:0021571,UMLS,C0013393,Exact +GARD:0021572,Orphanet,364568,Exact +GARD:0021573,Orphanet,364571,Exact +GARD:0021574,Orphanet,364574,Exact +GARD:0021575,Orphanet,364803,Exact +GARD:0021576,Orphanet,364817,Exact +GARD:0021577,Orphanet,364820,Exact +GARD:0021578,Orphanet,365563,Exact +GARD:0021578,ICD-10,Q41.0,NTBT +GARD:0021579,Orphanet,369847,Exact +GARD:0021579,ICD-10,G25.5,NTBT +GARD:0021579,SNOMED-CT,787174003,NA +GARD:0021580,Orphanet,369873,Exact +GARD:0021580,ICD-10,E66.8,NTBT +GARD:0021580,SNOMED-CT,783719006,NA +GARD:0021581,SNOMED-CT,770754006,NA +GARD:0021581,Orphanet,369881,Exact +GARD:0021581,ICD-10,Q93.5,NTBT +GARD:0021582,Orphanet,369886,Exact +GARD:0021582,ICD-10,Q93.5,NTBT +GARD:0021583,Orphanet,369950,Exact +GARD:0021583,ICD-10,Q87.8,NTBT +GARD:0021583,SNOMED-CT,770750002,NA +GARD:0021584,Orphanet,369979,Exact +GARD:0021584,ICD-10,Q87.2,NTBT +GARD:0021584,SNOMED-CT,782758009,NA +GARD:0021585,Orphanet,370010,Exact +GARD:0021585,ICD-10,Q87.0,NTBT +GARD:0021585,SNOMED-CT,773416006,NA +GARD:0021586,Orphanet,370015,Exact +GARD:0021586,ICD-10,Q77.8,NTBT +GARD:0021586,SNOMED-CT,782821004,NA +GARD:0021587,Orphanet,370019,Exact +GARD:0021587,ICD-10,Q77.8,NTBT +GARD:0021587,SNOMED-CT,782820003,NA +GARD:0021588,SNOMED-CT,725390002,NA +GARD:0021588,Orphanet,370026,Exact +GARD:0021588,ICD-10,C92.0,NTBT +GARD:0021589,Orphanet,370034,Exact +GARD:0021589,ICD-10,Q06.4,NTBT +GARD:0021590,SNOMED-CT,774210006,NA +GARD:0021590,Orphanet,370039,Exact +GARD:0021590,ICD-10,Q82.5,NTBT +GARD:0021591,SNOMED-CT,774209001,NA +GARD:0021591,Orphanet,370046,Exact +GARD:0021591,ICD-10,Q84.8,NTBT +GARD:0021592,Orphanet,370052,Exact +GARD:0021592,ICD-10,Q84.8,NTBT +GARD:0021592,SNOMED-CT,774208009,NA +GARD:0021593,Orphanet,370059,Exact +GARD:0021593,ICD-10,Q84.8,NTBT +GARD:0021593,SNOMED-CT,773986009,NA +GARD:0021594,Orphanet,370068,Exact +GARD:0021594,ICD-10,Q86.8,NTBT +GARD:0021594,UMLS,C1739111,Exact +GARD:0021595,SNOMED-CT,254249002,NA +GARD:0021595,Orphanet,370076,Exact +GARD:0021595,ICD-10,Q86.8,NTBT +GARD:0021596,Orphanet,370106,Exact +GARD:0021597,Orphanet,370109,Exact +GARD:0021597,UMLS,C1876175,Exact +GARD:0021597,ICD-10,G11.3,NTBT +GARD:0021597,SNOMED-CT,763065008,NA +GARD:0021598,Orphanet,370127,Exact +GARD:0021598,ICD-10,D69.1,NTBT +GARD:0021598,SNOMED-CT,718554005,NA +GARD:0021599,Orphanet,370930,Exact +GARD:0021599,ICD-10,E77.8,NTBT +GARD:0021599,SNOMED-CT,773418007,NA +GARD:0021600,Orphanet,371007,Exact +GARD:0021600,ICD-10,G71.2,NTBT +GARD:0021600,SNOMED-CT,763314009,NA +GARD:0021601,Orphanet,371024,Exact +GARD:0021601,ICD-10,G71.2,NTBT +GARD:0021601,UMLS,C2936406,Exact +GARD:0021602,Orphanet,371040,Exact +GARD:0021602,ICD-10,G71.2,NTBT +GARD:0021603,Orphanet,371047,Exact +GARD:0021603,ICD-10,E77.8,NTBT +GARD:0021604,Orphanet,371071,Exact +GARD:0021604,ICD-10,E77.8,NTBT +GARD:0021605,Orphanet,371157,Exact +GARD:0021605,ICD-10,E77.8,NTBT +GARD:0021606,Orphanet,371176,Exact +GARD:0021606,ICD-10,E77.8,NTBT +GARD:0021607,Orphanet,371183,Exact +GARD:0021607,ICD-10,E77.8,NTBT +GARD:0021608,Orphanet,371188,Exact +GARD:0021608,ICD-10,E77.8,NTBT +GARD:0021609,Orphanet,371195,Exact +GARD:0021609,ICD-10,E77.8,NTBT +GARD:0021610,Orphanet,371200,Exact +GARD:0021610,ICD-10,E77.8,NTBT +GARD:0021611,Orphanet,371207,Exact +GARD:0021611,ICD-10,E77.8,NTBT +GARD:0021612,Orphanet,371212,Exact +GARD:0021612,ICD-10,E77.8,NTBT +GARD:0021613,Orphanet,371433,Exact +GARD:0021613,ICD-10,G72.3,NTBT +GARD:0021614,Orphanet,371436,Exact +GARD:0021615,Orphanet,371442,Exact +GARD:0021616,Orphanet,371445,Exact +GARD:0021617,Orphanet,371861,Exact +GARD:0021617,ICD-10,E26.0,NTBT +GARD:0021618,Orphanet,376724,Exact +GARD:0021618,ICD-10,G24.1,NTBT +GARD:0021619,Orphanet,391316,Exact +GARD:0021619,ICD-10,G40.2,NTBT +GARD:0021619,SNOMED-CT,773421009,NA +GARD:0021620,SNOMED-CT,774206008,NA +GARD:0021620,Orphanet,391343,Exact +GARD:0021620,ICD-10,G04.8,NTBT +GARD:0021621,Orphanet,391366,Exact +GARD:0021621,SNOMED-CT,774204006,NA +GARD:0021622,Orphanet,391381,Exact +GARD:0021623,Orphanet,391490,Exact +GARD:0021623,ICD-10,G70.0,NTBT +GARD:0021624,Orphanet,391497,Exact +GARD:0021624,ICD-10,G70.0,NTBT +GARD:0021625,Orphanet,391504,Exact +GARD:0021625,UMLS,C0495465,Exact +GARD:0021625,UMLS,C0158982,Exact +GARD:0021625,ICD-10,P94.0,Exact +GARD:0021625,ICD-11,KB08.0,Exact +GARD:0021626,SNOMED-CT,403969002,NA +GARD:0021626,Orphanet,391651,Exact +GARD:0021626,ICD-10,D18.0,NTBT +GARD:0021626,UMLS,C0017653,Exact +GARD:0021627,Orphanet,391655,Exact +GARD:0021628,Orphanet,391711,Exact +GARD:0021628,ICD-10,G24.1,NTBT +GARD:0021629,SNOMED-CT,721672004,NA +GARD:0021629,Orphanet,391723,Exact +GARD:0021629,ICD-10,C18.1,NTBT +GARD:0021629,UMLS,C1706832,Exact +GARD:0021630,Orphanet,391799,Exact +GARD:0021631,Orphanet,397587,Exact +GARD:0021631,UMLS,C1395264,Exact +GARD:0021631,ICD-10,B35.8,NTBT +GARD:0021631,SNOMED-CT,266152000,NA +GARD:0021632,Orphanet,397606,Exact +GARD:0021632,ICD-10,G60.8,NTBT +GARD:0021632,SNOMED-CT,733422008,NA +GARD:0021633,Orphanet,397695,Exact +GARD:0021633,ICD-10,Q93.5,NTBT +GARD:0021633,SNOMED-CT,770719004,NA +GARD:0021634,Orphanet,397750,Exact +GARD:0021634,SNOMED-CT,774154008,NA +GARD:0021634,ICD-10,G72.3,NTBT +GARD:0021635,Orphanet,397755,Exact +GARD:0021635,ICD-10,G72.3,NTBT +GARD:0021635,SNOMED-CT,774153002,NA +GARD:0021636,Orphanet,397802,Exact +GARD:0021636,ICD-10,D81.2,NTBT +GARD:0021637,Orphanet,397922,Exact +GARD:0021637,ICD-10,G23.0,NTBT +GARD:0021637,SNOMED-CT,774151000,NA +GARD:0021638,SNOMED-CT,764846009,NA +GARD:0021638,Orphanet,398053,Exact +GARD:0021638,ICD-10,C60.9,NTBT +GARD:0021638,ICD-10,C60.8,NTBT +GARD:0021638,ICD-10,C60.2,NTBT +GARD:0021638,ICD-10,C60.1,NTBT +GARD:0021638,ICD-10,C60.0,NTBT +GARD:0021639,Orphanet,398058,Exact +GARD:0021639,ICD-10,C60.8,NTBT +GARD:0021639,UMLS,C0238348,Exact +GARD:0021639,ICD-10,C60.9,NTBT +GARD:0021639,ICD-10,C60.0,NTBT +GARD:0021639,ICD-10,C60.2,NTBT +GARD:0021639,ICD-10,C60.1,NTBT +GARD:0021639,SNOMED-CT,403468003,NA +GARD:0021640,SNOMED-CT,770593004,NA +GARD:0021640,Orphanet,398063,Exact +GARD:0021640,ICD-10,K90.0,NTBT +GARD:0021641,SNOMED-CT,770680004,NA +GARD:0021641,Orphanet,398073,Exact +GARD:0021641,ICD-10,Q87.1,NTBT +GARD:0021642,Orphanet,398079,Exact +GARD:0021642,ICD-10,Q87.1,NTBT +GARD:0021643,Orphanet,398091,Exact +GARD:0021644,Orphanet,398097,Exact +GARD:0021644,ICD-10,D68.6,NTBT +GARD:0021644,SNOMED-CT,774084003,NA +GARD:0021645,SNOMED-CT,774083009,NA +GARD:0021645,Orphanet,398109,Exact +GARD:0021645,ICD-10,D59.1,NTBT +GARD:0021646,Orphanet,398117,Exact +GARD:0021646,ICD-10,M33.1,NTBT +GARD:0021646,SNOMED-CT,774082004,NA +GARD:0021647,Orphanet,398124,Exact +GARD:0021647,UMLS,C0409979,Exact +GARD:0021647,ICD-10,M32.8,NTBT +GARD:0021647,SNOMED-CT,95609003,NA +GARD:0021648,Orphanet,398127,Exact +GARD:0021648,ICD-10,P83.8,NTBT +GARD:0021648,SNOMED-CT,774080007,NA +GARD:0021649,SNOMED-CT,785723001,NA +GARD:0021649,Orphanet,398147,Exact +GARD:0021649,ICD-10,G50.1,Exact +GARD:0021649,ICD-11,8A85,NTBT +GARD:0021650,Orphanet,398940,Exact +GARD:0021651,SNOMED-CT,733361001,NA +GARD:0021651,Orphanet,398961,Exact +GARD:0021651,ICD-10,C56,NTBT +GARD:0021652,SNOMED-CT,763131005,NA +GARD:0021652,Orphanet,398971,Exact +GARD:0021652,ICD-10,C56,NTBT +GARD:0021653,Orphanet,398980,Exact +GARD:0021653,ICD-10,C48.0,NTBT +GARD:0021653,ICD-10,C48.2,NTBT +GARD:0021653,ICD-10,C48.1,NTBT +GARD:0021653,ICD-10,C48.8,NTBT +GARD:0021654,Orphanet,398987,Exact +GARD:0021654,ICD-10,C56,NTBT +GARD:0021655,Orphanet,399081,Exact +GARD:0021655,ICD-10,G71.0,NTBT +GARD:0021655,SNOMED-CT,763776004,NA +GARD:0021656,SNOMED-CT,783148005,NA +GARD:0021656,Orphanet,399103,Exact +GARD:0021656,ICD-10,G71.0,NTBT +GARD:0021657,Orphanet,399158,Exact +GARD:0021657,ICD-10,M87.3,NTBT +GARD:0021657,ICD-10,M87.1,NTBT +GARD:0021657,ICD-10,M87.0,NTBT +GARD:0021657,UMLS,C0029445,Exact +GARD:0021657,ICD-10,M87.2,NTBT +GARD:0021657,ICD-10,M87.8,NTBT +GARD:0021657,ICD-10,M87.9,NTBT +GARD:0021658,Orphanet,399164,Exact +GARD:0021658,ICD-10,M87.9,BTNT +GARD:0021658,ICD-10,M87.0,BTNT +GARD:0021658,ICD-10,M87.2,BTNT +GARD:0021658,ICD-10,M87.8,BTNT +GARD:0021658,ICD-10,M87.3,BTNT +GARD:0021658,ICD-10,M87.1,BTNT +GARD:0021659,Orphanet,399169,Exact +GARD:0021660,Orphanet,399175,Exact +GARD:0021660,ICD-11,FB81.3,Exact +GARD:0021660,ICD-10,M87.2,Exact +GARD:0021661,SNOMED-CT,787092009,NA +GARD:0021661,Orphanet,399180,Exact +GARD:0021661,ICD-10,M87.3,NTBT +GARD:0021661,ICD-10,M87.1,NTBT +GARD:0021662,Orphanet,399185,Exact +GARD:0021663,Orphanet,399293,Exact +GARD:0021663,ICD-10,K10.2,NTBT +GARD:0021663,UMLS,C2711248,Exact +GARD:0021664,Orphanet,399302,Exact +GARD:0021665,Orphanet,399307,Exact +GARD:0021665,ICD-11,FB81.0,Exact +GARD:0021665,ICD-10,M87.0,Exact +GARD:0021666,SNOMED-CT,26460006,NA +GARD:0021666,Orphanet,399329,Exact +GARD:0021666,ICD-10,M93.9,NTBT +GARD:0021667,Orphanet,399380,Exact +GARD:0021667,ICD-10,M93.9,NTBT +GARD:0021668,Orphanet,399388,Exact +GARD:0021668,ICD-10,M93.9,NTBT +GARD:0021669,Orphanet,399391,Exact +GARD:0021669,ICD-10,M93.9,NTBT +GARD:0021670,Orphanet,399572,Exact +GARD:0021670,ICD-10,N46,NTBT +GARD:0021671,Orphanet,399584,Exact +GARD:0021671,ICD-10,N46,NTBT +GARD:0021672,Orphanet,399685,Exact +GARD:0021672,ICD-10,N46,NTBT +GARD:0021673,Orphanet,399764,Exact +GARD:0021673,ICD-10,N46,NTBT +GARD:0021674,Orphanet,399771,Exact +GARD:0021674,ICD-10,N46,NTBT +GARD:0021675,Orphanet,399775,Exact +GARD:0021675,ICD-10,N46,NTBT +GARD:0021676,Orphanet,399813,Exact +GARD:0021676,ICD-10,N46,NTBT +GARD:0021677,Orphanet,399824,Exact +GARD:0021678,Orphanet,399831,Exact +GARD:0021678,ICD-10,N97.0,NTBT +GARD:0021679,Orphanet,399839,Exact +GARD:0021679,ICD-10,N97.0,NTBT +GARD:0021680,Orphanet,399846,Exact +GARD:0021681,Orphanet,399849,Exact +GARD:0021682,Orphanet,399853,Exact +GARD:0021682,ICD-10,N97.0,NTBT +GARD:0021683,Orphanet,399877,Exact +GARD:0021683,ICD-10,N97.0,NTBT +GARD:0021684,Orphanet,399882,Exact +GARD:0021684,ICD-10,N97.2,NTBT +GARD:0021685,Orphanet,399980,Exact +GARD:0021686,Orphanet,399983,Exact +GARD:0021686,ICD-10,N46,NTBT +GARD:0021687,Orphanet,399994,Exact +GARD:0021687,ICD-10,N46,NTBT +GARD:0021688,Orphanet,399998,Exact +GARD:0021688,ICD-10,N46,NTBT +GARD:0021689,Orphanet,400003,Exact +GARD:0021690,Orphanet,400008,Exact +GARD:0021691,Orphanet,400011,Exact +GARD:0021691,ICD-10,N97.0,NTBT +GARD:0021692,Orphanet,400018,Exact +GARD:0021693,Orphanet,400022,Exact +GARD:0021693,ICD-10,N97.0,NTBT +GARD:0021694,Orphanet,400025,Exact +GARD:0021694,ICD-10,N97.2,NTBT +GARD:0021695,SNOMED-CT,773425000,NA +GARD:0021695,Orphanet,401795,Exact +GARD:0021695,ICD-10,G11.4,NTBT +GARD:0021696,Orphanet,401800,Exact +GARD:0021696,ICD-10,G11.4,NTBT +GARD:0021696,SNOMED-CT,782746009,NA +GARD:0021697,Orphanet,401815,Exact +GARD:0021697,ICD-10,G11.4,NTBT +GARD:0021697,SNOMED-CT,782747000,NA +GARD:0021698,Orphanet,401820,Exact +GARD:0021698,SNOMED-CT,766767001,NA +GARD:0021698,ICD-10,G11.4,NTBT +GARD:0021699,SNOMED-CT,782725000,NA +GARD:0021699,Orphanet,401830,Exact +GARD:0021699,ICD-10,G11.4,NTBT +GARD:0021700,SNOMED-CT,770724001,NA +GARD:0021700,Orphanet,401835,Exact +GARD:0021700,ICD-10,G11.4,NTBT +GARD:0021701,Orphanet,401840,Exact +GARD:0021701,ICD-10,G11.4,NTBT +GARD:0021701,SNOMED-CT,782726004,NA +GARD:0021702,Orphanet,401901,Exact +GARD:0021702,SNOMED-CT,782743001,NA +GARD:0021702,ICD-10,G10,NTBT +GARD:0021703,Orphanet,401911,Exact +GARD:0021703,ICD-10,D12.6,NTBT +GARD:0021704,Orphanet,401920,Exact +GARD:0021704,UMLS,C0334287,Exact +GARD:0021704,ICD-10,C22.0,NTBT +GARD:0021704,SNOMED-CT,253018005,NA +GARD:0021705,Orphanet,401923,Exact +GARD:0021705,ICD-10,Q93.5,NTBT +GARD:0021705,SNOMED-CT,773493002,NA +GARD:0021706,Orphanet,401935,Exact +GARD:0021706,ICD-10,Q93.5,NTBT +GARD:0021706,SNOMED-CT,773494008,NA +GARD:0021707,Orphanet,401959,Exact +GARD:0021707,ICD-10,Q04.3,NTBT +GARD:0021707,SNOMED-CT,773497001,NA +GARD:0021708,Orphanet,401993,Exact +GARD:0021708,ICD-10,G90.8,NTBT +GARD:0021709,Orphanet,402007,Exact +GARD:0021709,UMLS,C0263390,Exact +GARD:0021709,ICD-10,L98.5,NTBT +GARD:0021710,SNOMED-CT,733598001,NA +GARD:0021710,Orphanet,402014,Exact +GARD:0021710,ICD-10,C92.0,NTBT +GARD:0021711,SNOMED-CT,444911000,NA +GARD:0021711,Orphanet,402017,Exact +GARD:0021711,ICD-10,C92.0,NTBT +GARD:0021712,Orphanet,402023,Exact +GARD:0021712,ICD-10,C94.2,NTBT +GARD:0021712,SNOMED-CT,763796007,NA +GARD:0021713,Orphanet,402026,Exact +GARD:0021713,ICD-10,C92.0,NTBT +GARD:0021713,SNOMED-CT,763309005,NA +GARD:0021714,Orphanet,402029,Exact +GARD:0021714,ICD-10,K52.8,NTBT +GARD:0021715,Orphanet,402035,Exact +GARD:0021715,UMLS,C0267448,Exact +GARD:0021715,ICD-10,K52.8,NTBT +GARD:0021715,SNOMED-CT,29120000,NA +GARD:0021716,Orphanet,402823,Exact +GARD:0021716,UMLS,C0011226,Exact +GARD:0021716,ICD-10,B17.0,Exact +GARD:0021716,SNOMED-CT,707341005,NA +GARD:0021717,SNOMED-CT,774070008,NA +GARD:0021717,Orphanet,404451,Exact +GARD:0021717,ICD-10,Q87.8,NTBT +GARD:0021718,Orphanet,404469,Exact +GARD:0021718,ICD-10,N97.8,NTBT +GARD:0021719,Orphanet,404481,Exact +GARD:0021719,ICD-10,G11.1,NTBT +GARD:0021720,SNOMED-CT,307607001,NA +GARD:0021720,Orphanet,404507,Exact +GARD:0021720,ICD-10,D16.9,NTBT +GARD:0021720,UMLS,C0221290,Exact +GARD:0021721,Orphanet,404511,Exact +GARD:0021721,ICD-10,C64,NTBT +GARD:0021721,SNOMED-CT,734015000,NA +GARD:0021722,Orphanet,404514,Exact +GARD:0021722,ICD-10,C64,NTBT +GARD:0021722,SNOMED-CT,764856008,NA +GARD:0021723,Orphanet,404521,Exact +GARD:0021723,SNOMED-CT,770727008,NA +GARD:0021723,ICD-10,G12.2,NTBT +GARD:0021724,Orphanet,404538,Exact +GARD:0021724,ICD-10,G12.2,NTBT +GARD:0021725,Orphanet,404568,Exact +GARD:0021726,Orphanet,404571,Exact +GARD:0021727,Orphanet,404574,Exact +GARD:0021728,Orphanet,404577,Exact +GARD:0021729,Orphanet,404580,Exact +GARD:0021729,UMLS,C0409667,Exact +GARD:0021730,Orphanet,404584,Exact +GARD:0021731,Orphanet,411501,Exact +GARD:0021731,ICD-10,Q33.4,NTBT +GARD:0021731,UMLS,C0340231,Exact +GARD:0021731,SNOMED-CT,233788001,NA +GARD:0021732,Orphanet,411511,Exact +GARD:0021732,ICD-10,Q93.5,NTBT +GARD:0021733,Orphanet,411515,Exact +GARD:0021733,ICD-10,Q93.5,NTBT +GARD:0021734,Orphanet,411527,Exact +GARD:0021734,UMLS,C0154841,Exact +GARD:0021734,ICD-10,H34.8,NTBT +GARD:0021734,SNOMED-CT,68478007,NA +GARD:0021735,SNOMED-CT,770592009,NA +GARD:0021735,Orphanet,411696,Exact +GARD:0021735,ICD-10,K20,NTBT +GARD:0021736,Orphanet,411777,Exact +GARD:0021736,ICD-10,L85.8,NTBT +GARD:0021736,SNOMED-CT,254664008,NA +GARD:0021737,Orphanet,412035,Exact +GARD:0021737,ICD-10,Q93.5,NTBT +GARD:0021737,SNOMED-CT,773547003,NA +GARD:0021738,Orphanet,412066,Exact +GARD:0021738,ICD-10,G31.8,NTBT +GARD:0021738,SNOMED-CT,774069007,NA +GARD:0021739,SNOMED-CT,782718007,NA +GARD:0021739,Orphanet,412217,Exact +GARD:0021739,ICD-10,G24.8,NTBT +GARD:0021740,Orphanet,414726,Exact +GARD:0021741,Orphanet,418945,Exact +GARD:0021741,ICD-10,C15.8,ND (not yet decided/unable to decide) +GARD:0021741,ICD-10,C15.3,ND (not yet decided/unable to decide) +GARD:0021741,ICD-10,C15.5,ND (not yet decided/unable to decide) +GARD:0021741,ICD-10,C15.2,ND (not yet decided/unable to decide) +GARD:0021741,ICD-10,C15.4,ND (not yet decided/unable to decide) +GARD:0021741,ICD-10,C15.0,ND (not yet decided/unable to decide) +GARD:0021741,ICD-10,C15.1,ND (not yet decided/unable to decide) +GARD:0021741,SNOMED-CT,783183009,NA +GARD:0021742,SNOMED-CT,783704005,NA +GARD:0021742,Orphanet,418951,Exact +GARD:0021742,ICD-10,C15.8,ND (not yet decided/unable to decide) +GARD:0021742,ICD-10,C15.2,ND (not yet decided/unable to decide) +GARD:0021742,ICD-10,C15.3,ND (not yet decided/unable to decide) +GARD:0021742,ICD-10,C15.0,ND (not yet decided/unable to decide) +GARD:0021742,ICD-10,C15.4,ND (not yet decided/unable to decide) +GARD:0021742,ICD-10,C15.5,ND (not yet decided/unable to decide) +GARD:0021742,ICD-10,C15.1,ND (not yet decided/unable to decide) +GARD:0021743,Orphanet,418959,Exact +GARD:0021743,ICD-10,C16.1,ND (not yet decided/unable to decide) +GARD:0021743,ICD-10,C16.2,ND (not yet decided/unable to decide) +GARD:0021743,ICD-10,C16.5,ND (not yet decided/unable to decide) +GARD:0021743,ICD-10,C16.4,ND (not yet decided/unable to decide) +GARD:0021743,ICD-10,C16.0,ND (not yet decided/unable to decide) +GARD:0021743,ICD-10,C16.3,ND (not yet decided/unable to decide) +GARD:0021743,ICD-10,C16.8,ND (not yet decided/unable to decide) +GARD:0021743,SNOMED-CT,766980008,NA +GARD:0021744,Orphanet,420259,Exact +GARD:0021744,ICD-10,J84.0,NTBT +GARD:0021745,SNOMED-CT,768933005,NA +GARD:0021745,Orphanet,420402,Exact +GARD:0021745,ICD-10,H83.8,NTBT +GARD:0021746,Orphanet,420429,Exact +GARD:0021746,ICD-10,E74.0,NTBT +GARD:0021746,UMLS,C3888925,Exact +GARD:0021747,Orphanet,420699,Exact +GARD:0021747,ICD-10,D70,NTBT +GARD:0021747,SNOMED-CT,783200000,NA +GARD:0021748,Orphanet,420755,Exact +GARD:0021749,Orphanet,420789,Exact +GARD:0021749,ICD-10,G04.8,NTBT +GARD:0021749,SNOMED-CT,765751002,NA +GARD:0021750,Orphanet,420794,Exact +GARD:0021750,SNOMED-CT,766874001,NA +GARD:0021750,ICD-10,Q77.7,NTBT +GARD:0021751,Orphanet,423306,Exact +GARD:0021751,ICD-10,Q87.1,NTBT +GARD:0021751,SNOMED-CT,771074000,NA +GARD:0021752,SNOMED-CT,732246009,NA +GARD:0021752,Orphanet,423479,Exact +GARD:0021752,ICD-10,E79.8,NTBT +GARD:0021753,Orphanet,423655,Exact +GARD:0021754,Orphanet,423662,Exact +GARD:0021754,UMLS,C1145628,Exact +GARD:0021755,Orphanet,423693,Exact +GARD:0021755,ICD-10,Q20.1,NTBT +GARD:0021756,Orphanet,423712,Exact +GARD:0021756,ICD-10,Q24.8,NTBT +GARD:0021757,Orphanet,423771,Exact +GARD:0021757,UMLS,C0699791,Exact +GARD:0021758,Orphanet,423776,Exact +GARD:0021759,Orphanet,423786,Exact +GARD:0021759,ICD-10,C16.4,ND (not yet decided/unable to decide) +GARD:0021759,SNOMED-CT,766757006,NA +GARD:0021759,ICD-10,C16.2,ND (not yet decided/unable to decide) +GARD:0021759,ICD-10,C16.5,ND (not yet decided/unable to decide) +GARD:0021759,ICD-10,C16.1,ND (not yet decided/unable to decide) +GARD:0021759,ICD-10,C16.6,ND (not yet decided/unable to decide) +GARD:0021759,ICD-10,C16.0,ND (not yet decided/unable to decide) +GARD:0021759,ICD-10,C16.8,ND (not yet decided/unable to decide) +GARD:0021759,ICD-10,C16.3,ND (not yet decided/unable to decide) +GARD:0021760,Orphanet,423793,Exact +GARD:0021761,Orphanet,423798,Exact +GARD:0021762,SNOMED-CT,763798008,NA +GARD:0021762,Orphanet,423894,Exact +GARD:0021762,ICD-10,G60.0,NTBT +GARD:0021763,Orphanet,423957,Exact +GARD:0021763,UMLS,C0238196,Exact +GARD:0021764,Orphanet,423968,Exact +GARD:0021764,ICD-10,C17.3,ND (not yet decided/unable to decide) +GARD:0021764,ICD-10,C17.2,ND (not yet decided/unable to decide) +GARD:0021764,SNOMED-CT,764735002,NA +GARD:0021764,ICD-10,C17.8,ND (not yet decided/unable to decide) +GARD:0021764,ICD-10,C17.0,ND (not yet decided/unable to decide) +GARD:0021764,ICD-10,C17.1,ND (not yet decided/unable to decide) +GARD:0021765,Orphanet,423975,Exact +GARD:0021766,Orphanet,423982,Exact +GARD:0021767,Orphanet,423991,Exact +GARD:0021768,Orphanet,423994,Exact +GARD:0021768,ICD-10,C18.6,ND (not yet decided/unable to decide) +GARD:0021768,SNOMED-CT,766981007,NA +GARD:0021768,ICD-10,C18.3,ND (not yet decided/unable to decide) +GARD:0021768,ICD-10,C18.7,ND (not yet decided/unable to decide) +GARD:0021768,ICD-10,C18.2,ND (not yet decided/unable to decide) +GARD:0021768,ICD-10,C18.0,ND (not yet decided/unable to decide) +GARD:0021768,ICD-10,C18.5,ND (not yet decided/unable to decide) +GARD:0021768,ICD-10,C18.8,ND (not yet decided/unable to decide) +GARD:0021768,ICD-10,C18.4,ND (not yet decided/unable to decide) +GARD:0021768,ICD-10,C18.9,ND (not yet decided/unable to decide) +GARD:0021769,Orphanet,423998,Exact +GARD:0021770,SNOMED-CT,766979005,NA +GARD:0021770,Orphanet,424002,Exact +GARD:0021770,UMLS,C1335690,Exact +GARD:0021770,ICD-10,C20,NTBT +GARD:0021771,Orphanet,424010,Exact +GARD:0021772,Orphanet,424013,Exact +GARD:0021772,UMLS,C0563211,Exact +GARD:0021773,Orphanet,424016,Exact +GARD:0021773,ICD-10,C21.1,NTBT +GARD:0021773,SNOMED-CT,764845008,NA +GARD:0021774,Orphanet,424019,Exact +GARD:0021774,ICD-10,C21.1,NTBT +GARD:0021774,SNOMED-CT,722542000,NA +GARD:0021775,Orphanet,424033,Exact +GARD:0021776,Orphanet,424039,Exact +GARD:0021776,ICD-10,C25.8,ND (not yet decided/unable to decide) +GARD:0021776,ICD-10,C25.0,ND (not yet decided/unable to decide) +GARD:0021776,ICD-10,C25.7,ND (not yet decided/unable to decide) +GARD:0021776,ICD-10,C25.1,ND (not yet decided/unable to decide) +GARD:0021776,ICD-10,C25.2,ND (not yet decided/unable to decide) +GARD:0021776,SNOMED-CT,770602005,NA +GARD:0021777,Orphanet,424046,Exact +GARD:0021777,ICD-10,C25.2,ND (not yet decided/unable to decide) +GARD:0021777,UMLS,C0279661,Exact +GARD:0021777,ICD-10,C25.1,ND (not yet decided/unable to decide) +GARD:0021777,ICD-10,C25.0,ND (not yet decided/unable to decide) +GARD:0021777,ICD-10,C25.8,ND (not yet decided/unable to decide) +GARD:0021777,ICD-10,C25.7,ND (not yet decided/unable to decide) +GARD:0021777,SNOMED-CT,783771003,NA +GARD:0021778,SNOMED-CT,785879009,NA +GARD:0021778,Orphanet,424053,Exact +GARD:0021778,ICD-10,C25.0,ND (not yet decided/unable to decide) +GARD:0021778,ICD-10,C25.2,ND (not yet decided/unable to decide) +GARD:0021778,ICD-10,C25.8,ND (not yet decided/unable to decide) +GARD:0021778,UMLS,C2063873,Exact +GARD:0021778,ICD-10,C25.1,ND (not yet decided/unable to decide) +GARD:0021778,ICD-10,C25.7,ND (not yet decided/unable to decide) +GARD:0021779,Orphanet,424058,Exact +GARD:0021779,UMLS,C1335304,Exact +GARD:0021779,ICD-10,C25.3,NTBT +GARD:0021779,SNOMED-CT,780821007,NA +GARD:0021780,SNOMED-CT,782697005,NA +GARD:0021780,Orphanet,424065,Exact +GARD:0021780,ICD-10,C25.7,ND (not yet decided/unable to decide) +GARD:0021780,ICD-10,C25.1,ND (not yet decided/unable to decide) +GARD:0021780,ICD-10,C25.8,ND (not yet decided/unable to decide) +GARD:0021780,ICD-10,C25.2,ND (not yet decided/unable to decide) +GARD:0021780,ICD-10,C25.0,ND (not yet decided/unable to decide) +GARD:0021781,Orphanet,424073,Exact +GARD:0021781,ICD-10,C25.2,ND (not yet decided/unable to decide) +GARD:0021781,SNOMED-CT,783706007,NA +GARD:0021781,UMLS,C1335315,Exact +GARD:0021781,ICD-10,C25.7,ND (not yet decided/unable to decide) +GARD:0021781,ICD-10,C25.8,ND (not yet decided/unable to decide) +GARD:0021781,ICD-10,C25.1,ND (not yet decided/unable to decide) +GARD:0021781,ICD-10,C25.0,ND (not yet decided/unable to decide) +GARD:0021782,Orphanet,424080,Exact +GARD:0021782,ICD-10,C25.7,ND (not yet decided/unable to decide) +GARD:0021782,ICD-10,C25.2,ND (not yet decided/unable to decide) +GARD:0021782,ICD-10,C25.1,ND (not yet decided/unable to decide) +GARD:0021782,ICD-10,C25.8,ND (not yet decided/unable to decide) +GARD:0021782,ICD-10,C25.0,ND (not yet decided/unable to decide) +GARD:0021783,Orphanet,424107,Exact +GARD:0021783,ICD-10,G71.2,NTBT +GARD:0021783,SNOMED-CT,763315005,NA +GARD:0021784,Orphanet,424925,Exact +GARD:0021785,Orphanet,424933,Exact +GARD:0021786,Orphanet,424936,Exact +GARD:0021786,UMLS,C0221287,Exact +GARD:0021787,SNOMED-CT,787091002,NA +GARD:0021787,Orphanet,424943,Exact +GARD:0021787,ICD-10,C22.0,ND (not yet decided/unable to decide) +GARD:0021788,Orphanet,424970,Exact +GARD:0021788,ICD-10,C22.0,ND (not yet decided/unable to decide) +GARD:0021788,SNOMED-CT,770685009,NA +GARD:0021789,SNOMED-CT,770684008,NA +GARD:0021789,Orphanet,424975,Exact +GARD:0021789,ICD-10,C22.1,BTNT +GARD:0021789,ICD-10,C22.0,BTNT +GARD:0021790,Orphanet,424982,Exact +GARD:0021790,ICD-10,C22.1,NTBT +GARD:0021791,SNOMED-CT,765741003,NA +GARD:0021791,Orphanet,424991,Exact +GARD:0021791,ICD-10,C23,ND (not yet decided/unable to decide) +GARD:0021791,ICD-10,C24.8,ND (not yet decided/unable to decide) +GARD:0021791,ICD-10,C24.1,ND (not yet decided/unable to decide) +GARD:0021791,ICD-10,C28.9,ND (not yet decided/unable to decide) +GARD:0021791,ICD-10,C24.0,ND (not yet decided/unable to decide) +GARD:0021792,Orphanet,424996,Exact +GARD:0021792,ICD-10,C23,ND (not yet decided/unable to decide) +GARD:0021792,ICD-10,C24.8,ND (not yet decided/unable to decide) +GARD:0021792,ICD-10,C24.1,ND (not yet decided/unable to decide) +GARD:0021792,ICD-10,C24.9,ND (not yet decided/unable to decide) +GARD:0021792,ICD-10,C24.0,ND (not yet decided/unable to decide) +GARD:0021792,SNOMED-CT,766978002,NA +GARD:0021793,Orphanet,425003,Exact +GARD:0021794,Orphanet,425368,Exact +GARD:0021795,Orphanet,431156,Exact +GARD:0021796,Orphanet,431263,Exact +GARD:0021797,SNOMED-CT,789674008,NA +GARD:0021797,Orphanet,431320,Exact +GARD:0021798,Orphanet,431341,Exact +GARD:0021798,ICD-10,Q64.4,NTBT +GARD:0021798,SNOMED-CT,398316009,NA +GARD:0021799,Orphanet,431344,Exact +GARD:0021799,ICD-10,Q64.4,NTBT +GARD:0021799,SNOMED-CT,451030007,NA +GARD:0021800,Orphanet,431347,Exact +GARD:0021800,ICD-10,Q64.4,NTBT +GARD:0021800,SNOMED-CT,253899000,NA +GARD:0021801,Orphanet,431353,Exact +GARD:0021802,Orphanet,434786,Exact +GARD:0021803,Orphanet,434809,Exact +GARD:0021803,UMLS,C0345427,Exact +GARD:0021804,Orphanet,435365,Exact +GARD:0021805,Orphanet,435372,Exact +GARD:0021805,ICD-10,Q64.7,NTBT +GARD:0021805,SNOMED-CT,253907008,NA +GARD:0021806,Orphanet,435554,Exact +GARD:0021807,Orphanet,435561,Exact +GARD:0021808,Orphanet,435564,Exact +GARD:0021809,Orphanet,435603,Exact +GARD:0021810,Orphanet,435606,Exact +GARD:0021811,Orphanet,435609,Exact +GARD:0021812,Orphanet,435612,Exact +GARD:0021813,Orphanet,435638,Exact +GARD:0021813,ICD-10,Q93.5,NTBT +GARD:0021814,Orphanet,435743,Exact +GARD:0021814,UMLS,C1739100,Exact +GARD:0021815,Orphanet,435819,Exact +GARD:0021815,ICD-10,G60.0,NTBT +GARD:0021816,Orphanet,436003,Exact +GARD:0021816,ICD-10,Q87.0,NTBT +GARD:0021817,Orphanet,436141,Exact +GARD:0021817,ICD-10,Q87.8,NTBT +GARD:0021818,Orphanet,436144,Exact +GARD:0021818,ICD-10,Q87.1,NTBT +GARD:0021819,Orphanet,436271,Exact +GARD:0021819,ICD-10,G93.4,NTBT +GARD:0021820,Orphanet,436274,Exact +GARD:0021820,ICD-10,Q82.8,NTBT +GARD:0021821,Orphanet,438072,Exact +GARD:0021822,Orphanet,438279,Exact +GARD:0021822,ICD-10,B04,BTNT +GARD:0021822,ICD-10,B08.0,BTNT +GARD:0021822,ICD-10,B03,BTNT +GARD:0021823,Orphanet,439167,Exact +GARD:0021823,ICD-10,O36.5,NTBT +GARD:0021823,UMLS,C0032051,Exact +GARD:0021824,Orphanet,439175,Exact +GARD:0021824,ICD-10,I63.5,NTBT +GARD:0021825,Orphanet,439196,Exact +GARD:0021825,ICD-10,L53.8,NTBT +GARD:0021826,Orphanet,439202,Exact +GARD:0021826,ICD-10,P14.3,NTBT +GARD:0021827,Orphanet,439224,Exact +GARD:0021827,ICD-10,E85.8,NTBT +GARD:0021828,Orphanet,439232,Exact +GARD:0021828,ICD-10,E85.8,NTBT +GARD:0021829,Orphanet,439246,Exact +GARD:0021830,Orphanet,439737,Exact +GARD:0021830,ICD-10,M30.0,NTBT +GARD:0021830,ICD-11,4A44.4,NTBT +GARD:0021831,Orphanet,439746,Exact +GARD:0021831,ICD-10,M30.8,NTBT +GARD:0021831,ICD-10,M30.0,NTBT +GARD:0021832,Orphanet,439755,Exact +GARD:0021832,ICD-10,M30.0,NTBT +GARD:0021833,Orphanet,439762,Exact +GARD:0021833,ICD-10,M30.0,NTBT +GARD:0021833,UMLS,C0031036,Exact +GARD:0021834,Orphanet,439849,Exact +GARD:0021835,Orphanet,439881,Exact +GARD:0021835,UMLS,C0920258,Exact +GARD:0021835,SNOMED-CT,53926002,NA +GARD:0021835,UMLS,C0264342,Exact +GARD:0021836,Orphanet,440221,Exact +GARD:0021836,ICD-10,Q07.8,NTBT +GARD:0021837,Orphanet,440233,Exact +GARD:0021837,ICD-10,Q07.8,NTBT +GARD:0021838,Orphanet,440354,Exact +GARD:0021839,Orphanet,440368,Exact +GARD:0021839,ICD-10,M72.6,NTBT +GARD:0021839,SNOMED-CT,443928008,NA +GARD:0021840,Orphanet,440437,Exact +GARD:0021840,ICD-10,C18.2,BTNT +GARD:0021840,ICD-10,C18.3,BTNT +GARD:0021840,ICD-10,C18.6,BTNT +GARD:0021840,ICD-10,C18.0,BTNT +GARD:0021840,ICD-10,C18.4,BTNT +GARD:0021840,ICD-10,C18.5,BTNT +GARD:0021840,ICD-10,C18.1,BTNT +GARD:0021840,ICD-10,C18.7,BTNT +GARD:0021841,Orphanet,440701,Exact +GARD:0021842,Orphanet,440724,Exact +GARD:0021843,Orphanet,440727,Exact +GARD:0021844,Orphanet,440987,Exact +GARD:0021844,UMLS,C0266251,Exact +GARD:0021844,ICD-10,Q44.0,NTBT +GARD:0021845,Orphanet,441434,Exact +GARD:0021846,Orphanet,441447,Exact +GARD:0021846,ICD-10,H26.0,NTBT +GARD:0021847,Orphanet,442582,Exact +GARD:0021847,ICD-10,E85.9,NTBT +GARD:0021848,Orphanet,443090,Exact +GARD:0021849,Orphanet,443095,Exact +GARD:0021850,Orphanet,443101,Exact +GARD:0021850,ICD-10,E23.3,NTBT +GARD:0021851,Orphanet,443159,Exact +GARD:0021851,ICD-10,C83.0,NTBT +GARD:0021852,Orphanet,443167,Exact +GARD:0021852,ICD-10,C80.9,NTBT +GARD:0021853,SNOMED-CT,18260003,NA +GARD:0021853,Orphanet,443173,Exact +GARD:0021853,ICD-10,F53.1,NTBT +GARD:0021853,UMLS,C0520678,Exact +GARD:0021854,Orphanet,443180,Exact +GARD:0021854,ICD-11,8D61.0,Exact +GARD:0021854,UMLS,C3850067,Exact +GARD:0021854,ICD-10,G96.0,Exact +GARD:0021854,UMLS,C3544264,Exact +GARD:0021854,UMLS,C0751731,Exact +GARD:0021855,Orphanet,443227,Exact +GARD:0021855,ICD-10,A01.1,BTNT +GARD:0021855,ICD-10,A01.2,BTNT +GARD:0021855,UMLS,C0030528,Exact +GARD:0021855,ICD-10,A01.3,BTNT +GARD:0021855,ICD-10,A01.4,BTNT +GARD:0021855,SNOMED-CT,85904008,NA +GARD:0021856,Orphanet,443287,Exact +GARD:0021857,Orphanet,443291,Exact +GARD:0021857,ICD-10,B21.8,NTBT +GARD:0021858,Orphanet,444002,Exact +GARD:0021858,ICD-10,Q93.5,NTBT +GARD:0021859,Orphanet,444051,Exact +GARD:0021859,ICD-10,Q93.5,NTBT +GARD:0021860,Orphanet,444316,Exact +GARD:0021860,ICD-10,M89.5,NTBT +GARD:0021861,Orphanet,444916,Exact +GARD:0021861,UMLS,C0033805,Exact +GARD:0021862,Orphanet,444941,Exact +GARD:0021863,Orphanet,445197,Exact +GARD:0021864,Orphanet,447731,Exact +GARD:0021864,ICD-10,D81.8,NTBT +GARD:0021865,Orphanet,447740,Exact +GARD:0021865,ICD-10,D71,NTBT +GARD:0021866,Orphanet,447757,Exact +GARD:0021866,ICD-10,G11.4,NTBT +GARD:0021867,Orphanet,447764,Exact +GARD:0021867,ICD-10,K83.0,NTBT +GARD:0021868,Orphanet,447771,Exact +GARD:0021868,UMLS,C0008313,Exact +GARD:0021869,Orphanet,447774,Exact +GARD:0021869,ICD-10,K83.0,NTBT +GARD:0021870,Orphanet,447777,Exact +GARD:0021870,ICD-10,D16.4,NTBT +GARD:0021871,Orphanet,447788,Exact +GARD:0021871,ICD-10,H47.6,NTBT +GARD:0021872,Orphanet,447795,Exact +GARD:0021872,ICD-10,E88.8,NTBT +GARD:0021873,Orphanet,447874,Exact +GARD:0021874,Orphanet,447881,Exact +GARD:0021874,ICD-10,G72.8,NTBT +GARD:0021875,Orphanet,447980,Exact +GARD:0021875,ICD-10,Q92.3,NTBT +GARD:0021876,Orphanet,447985,Exact +GARD:0021877,Orphanet,448270,Exact +GARD:0021877,ICD-10,Q24.8,NTBT +GARD:0021877,UMLS,C0013580,Exact +GARD:0021878,Orphanet,448426,Exact +GARD:0021879,Orphanet,449266,Exact +GARD:0021879,UMLS,C0014013,Exact +GARD:0021880,Orphanet,449280,Exact +GARD:0021880,ICD-10,B48.7,NTBT +GARD:0021881,Orphanet,449285,Exact +GARD:0021881,ICD-10,T63.0,Exact +GARD:0021882,Orphanet,449395,Exact +GARD:0021882,ICD-10,N11.8,NTBT +GARD:0021883,Orphanet,449400,Exact +GARD:0021883,ICD-10,I77.6,NTBT +GARD:0021884,Orphanet,449432,Exact +GARD:0021884,ICD-10,K11.2,NTBT +GARD:0021885,Orphanet,449563,Exact +GARD:0021885,ICD-10,H05.1,NTBT +GARD:0021886,Orphanet,449566,Exact +GARD:0021886,ICD-10,J39.8,NTBT +GARD:0021887,Orphanet,450322,Exact +GARD:0021887,ICD-10,D89.0,NTBT +GARD:0021888,Orphanet,451602,Exact +GARD:0021888,ICD-10,L98.6,NTBT +GARD:0021889,Orphanet,451607,Exact +GARD:0021889,UMLS,C0311220,Exact +GARD:0021889,ICD-10,L98.6,NTBT +GARD:0021890,Orphanet,453510,Exact +GARD:0021890,ICD-10,G60.8,NTBT +GARD:0021891,Orphanet,454706,Exact +GARD:0021891,UMLS,C0917981,Exact +GARD:0021891,ICD-10,G12.2,NTBT +GARD:0021892,Orphanet,454710,Exact +GARD:0021892,ICD-10,L12.8,NTBT +GARD:0021893,Orphanet,454723,Exact +GARD:0021893,ICD-10,C56,NTBT +GARD:0021893,UMLS,C0346163,Exact +GARD:0021894,Orphanet,454742,Exact +GARD:0021894,ICD-10,A81.8,NTBT +GARD:0021895,Orphanet,454750,Exact +GARD:0021895,ICD-11,LB12.2,NTBT +GARD:0021895,ICD-10,Q39.2,Exact +GARD:0021895,UMLS,C0040588,Exact +GARD:0021896,Orphanet,454831,Exact +GARD:0021896,ICD-10,T66,Exact +GARD:0021897,Orphanet,454836,Exact +GARD:0021897,ICD-10,J09,NTBT +GARD:0021898,Orphanet,456298,Exact +GARD:0021898,ICD-10,Q93.5,NTBT +GARD:0021899,Orphanet,456333,Exact +GARD:0021899,ICD-10,C17.9,NTBT +GARD:0021900,Orphanet,457062,Exact +GARD:0021901,Orphanet,457074,Exact +GARD:0021902,Orphanet,457077,Exact +GARD:0021902,ICD-10,M35.8,NTBT +GARD:0021903,Orphanet,457083,Exact +GARD:0021903,ICD-10,Q89.0,NTBT +GARD:0021904,Orphanet,457205,Exact +GARD:0021904,ICD-10,G60.8,NTBT +GARD:0021905,Orphanet,457246,Exact +GARD:0021905,ICD-10,C64,NTBT +GARD:0021906,Orphanet,457365,Exact +GARD:0021907,Orphanet,458758,Exact +GARD:0021907,ICD-10,D48.1,NTBT +GARD:0021908,Orphanet,458763,Exact +GARD:0021908,ICD-10,D48.1,NTBT +GARD:0021909,Orphanet,458768,Exact +GARD:0021909,ICD-10,D48.1,NTBT +GARD:0021910,Orphanet,458775,Exact +GARD:0021911,Orphanet,458785,Exact +GARD:0021911,ICD-10,D18.0,NTBT +GARD:0021912,Orphanet,458792,Exact +GARD:0021912,ICD-10,D18.1,NTBT +GARD:0021913,Orphanet,458827,Exact +GARD:0021914,Orphanet,458830,Exact +GARD:0021915,Orphanet,458833,Exact +GARD:0021916,Orphanet,458837,Exact +GARD:0021917,Orphanet,458844,Exact +GARD:0021918,Orphanet,459074,Exact +GARD:0021918,ICD-10,Q04.0,NTBT +GARD:0021919,Orphanet,459345,Exact +GARD:0021920,Orphanet,459348,Exact +GARD:0021921,Orphanet,459526,Exact +GARD:0021922,Orphanet,459537,Exact +GARD:0021923,Orphanet,459543,Exact +GARD:0021924,Orphanet,459548,Exact +GARD:0021925,Orphanet,459787,Exact +GARD:0021926,Orphanet,464311,Exact +GARD:0021927,Orphanet,464318,Exact +GARD:0021927,ICD-10,D18.0,NTBT +GARD:0021928,Orphanet,464359,Exact +GARD:0021928,ICD-10,D30.0,NTBT +GARD:0021929,Orphanet,464370,Exact +GARD:0021929,ICD-10,P61.5,NTBT +GARD:0021930,Orphanet,464453,Exact +GARD:0021930,ICD-10,D74.8,NTBT +GARD:0021931,Orphanet,464458,Exact +GARD:0021932,Orphanet,464756,Exact +GARD:0021932,ICD-10,C16.9,NTBT +GARD:0021933,Orphanet,464764,Exact +GARD:0021934,Orphanet,466066,Exact +GARD:0021935,Orphanet,466084,Exact +GARD:0021936,Orphanet,466650,Exact +GARD:0021936,ICD-10,T88.3,NTBT +GARD:0021937,Orphanet,466658,Exact +GARD:0021938,Orphanet,466670,Exact +GARD:0021938,ICD-11,NE61,NTBT +GARD:0021938,ICD-10,T65.0,Exact +GARD:0021939,Orphanet,466677,Exact +GARD:0021939,ICD-10,T63.2,Exact +GARD:0021940,Orphanet,466682,Exact +GARD:0021940,ICD-10,H05.2,NTBT +GARD:0021941,Orphanet,466695,Exact +GARD:0021941,ICD-10,J34.8,NTBT +GARD:0021942,Orphanet,466921,Exact +GARD:0021942,ICD-10,G71.0,NTBT +GARD:0021943,Orphanet,466962,Exact +GARD:0021943,ICD-10,C49.3,NTBT +GARD:0021944,Orphanet,467166,Exact +GARD:0021945,Orphanet,468635,Exact +GARD:0021946,Orphanet,468641,Exact +GARD:0021947,Orphanet,471383,Exact +GARD:0021948,Orphanet,474347,Exact +GARD:0021949,Orphanet,476093,Exact +GARD:0021949,ICD-10,G60.8,NTBT +GARD:0021950,Orphanet,476096,Exact +GARD:0021951,Orphanet,476109,Exact +GARD:0021952,Orphanet,476116,Exact +GARD:0021953,Orphanet,476119,Exact +GARD:0021954,Orphanet,476123,Exact +GARD:0021955,Orphanet,476403,Exact +GARD:0021956,Orphanet,476406,Exact +GARD:0021956,ICD-10,G71.2,NTBT +GARD:0021957,Orphanet,477647,Exact +GARD:0021958,Orphanet,477650,Exact +GARD:0021958,ICD-11,FB51.3,Exact +GARD:0021958,ICD-10,M06.4,NTBT +GARD:0021959,Orphanet,477742,Exact +GARD:0021960,Orphanet,477754,Exact +GARD:0021961,Orphanet,477759,Exact +GARD:0021962,Orphanet,477762,Exact +GARD:0021963,Orphanet,477765,Exact +GARD:0021964,Orphanet,477768,Exact +GARD:0021965,Orphanet,477771,Exact +GARD:0021966,Orphanet,477781,Exact +GARD:0021966,ICD-10,K07.0,NTBT +GARD:0021967,Orphanet,477794,Exact +GARD:0021968,Orphanet,477797,Exact +GARD:0021969,Orphanet,477805,Exact +GARD:0021970,Orphanet,477808,Exact +GARD:0021971,Orphanet,477811,Exact +GARD:0021972,Orphanet,480491,Exact +GARD:0021972,ICD-10,K76.8,NTBT +GARD:0021973,Orphanet,480501,Exact +GARD:0021973,ICD-11,LB20.20,Exact +GARD:0021973,ICD-10,Q44.4,Exact +GARD:0021974,Orphanet,480506,Exact +GARD:0021974,ICD-10,K80.3,NTBT +GARD:0021975,Orphanet,480512,Exact +GARD:0021975,ICD-10,K83.8,NTBT +GARD:0021976,Orphanet,480520,Exact +GARD:0021976,ICD-10,Q44.6,NTBT +GARD:0021977,Orphanet,480524,Exact +GARD:0021978,Orphanet,480528,Exact +GARD:0021979,Orphanet,480531,Exact +GARD:0021980,Orphanet,480541,Exact +GARD:0021980,ICD-10,C85.7,NTBT +GARD:0021981,Orphanet,480549,Exact +GARD:0021982,Orphanet,480553,Exact +GARD:0021983,Orphanet,480556,Exact +GARD:0021983,ICD-10,K83.0,NTBT +GARD:0021984,Orphanet,480701,Exact +GARD:0021984,ICD-10,G61.0,NTBT +GARD:0021985,Orphanet,481508,Exact +GARD:0021986,Orphanet,481671,Exact +GARD:0021987,Orphanet,481771,Exact +GARD:0021988,Orphanet,482072,Exact +GARD:0021989,Orphanet,482092,Exact +GARD:0021990,Orphanet,482606,Exact +GARD:0021991,Orphanet,485358,Exact +GARD:0021992,Orphanet,485382,Exact +GARD:0021993,Orphanet,485405,Exact +GARD:0021994,Orphanet,485418,Exact +GARD:0021994,ICD-10,G60.8,NTBT +GARD:0021995,Orphanet,485426,Exact +GARD:0021995,ICD-10,Q44.6,NTBT +GARD:0021996,Orphanet,485631,Exact +GARD:0021997,Orphanet,486955,Exact +GARD:0021998,Orphanet,487809,Exact +GARD:0021999,Orphanet,487814,Exact +GARD:0021999,ICD-10,G60.0,NTBT +GARD:0022000,Orphanet,488239,Exact +GARD:0022001,Orphanet,488437,Exact +GARD:0022002,Orphanet,488586,Exact +GARD:0022003,Orphanet,494424,Exact +GARD:0022004,Orphanet,494428,Exact +GARD:0022005,Orphanet,494448,Exact +GARD:0022005,ICD-10,C51.8,NTBT +GARD:0022005,ICD-11,2C70.2,Exact +GARD:0022006,Orphanet,494451,Exact +GARD:0022006,ICD-11,2C70.0,Exact +GARD:0022006,ICD-10,C51.8,NTBT +GARD:0022007,Orphanet,494454,Exact +GARD:0022007,ICD-10,C51.8,NTBT +GARD:0022008,Orphanet,494457,Exact +GARD:0022009,Orphanet,495818,Exact +GARD:0022010,Orphanet,495875,Exact +GARD:0022011,Orphanet,495879,Exact +GARD:0022012,Orphanet,496689,Exact +GARD:0022012,ICD-10,G11.4,NTBT +GARD:0022013,Orphanet,496916,Exact +GARD:0022014,Orphanet,496924,Exact +GARD:0022015,Orphanet,497623,Exact +GARD:0022016,Orphanet,497737,Exact +GARD:0022017,Orphanet,498251,Exact +GARD:0022017,ICD-10,N94.8,NTBT +GARD:0022018,Orphanet,498345,Exact +GARD:0022019,Orphanet,498350,Exact +GARD:0022020,Orphanet,498445,Exact +GARD:0022021,Orphanet,498448,Exact +GARD:0022022,Orphanet,498451,Exact +GARD:0022023,Orphanet,498454,Exact +GARD:0022024,Orphanet,498457,Exact +GARD:0022025,Orphanet,498461,Exact +GARD:0022026,Orphanet,498464,Exact +GARD:0022027,Orphanet,498467,Exact +GARD:0022028,Orphanet,498470,Exact +GARD:0022029,Orphanet,498474,Exact +GARD:0022030,Orphanet,498477,Exact +GARD:0022031,Orphanet,498481,Exact +GARD:0022032,Orphanet,498488,Exact +GARD:0022033,Orphanet,498491,Exact +GARD:0022034,Orphanet,498494,Exact +GARD:0022035,Orphanet,498693,Exact +GARD:0022035,ICD-10,Q74.3,NTBT +GARD:0022036,Orphanet,499009,Exact +GARD:0022037,Orphanet,499047,Exact +GARD:0022038,Orphanet,499085,Exact +GARD:0022038,ICD-10,H46,NTBT +GARD:0022039,Orphanet,499096,Exact +GARD:0022039,ICD-10,H46,NTBT +GARD:0022040,Orphanet,499103,Exact +GARD:0022041,Orphanet,499107,Exact +GARD:0022042,Orphanet,499182,Exact +GARD:0022042,ICD-10,C44.4,BTNT +GARD:0022042,ICD-10,C44.3,BTNT +GARD:0022043,Orphanet,500163,Exact +GARD:0022044,Orphanet,502305,Exact +GARD:0022044,ICD-10,Q16.5,NTBT +GARD:0022045,Orphanet,502318,Exact +GARD:0022045,ICD-10,H93.3,NTBT +GARD:0022046,Orphanet,502369,Exact +GARD:0022047,Orphanet,502430,Exact +GARD:0022048,Orphanet,502437,Exact +GARD:0022049,Orphanet,502499,Exact +GARD:0022049,ICD-10,L51.8,NTBT +GARD:0022050,Orphanet,505208,Exact +GARD:0022050,ICD-10,E71.1,NTBT +GARD:0022051,Orphanet,505395,Exact +GARD:0022052,Orphanet,506052,Exact +GARD:0022053,Orphanet,506060,Exact +GARD:0022054,Orphanet,506075,Exact +GARD:0022054,ICD-10,C25.9,NTBT +GARD:0022055,Orphanet,506090,Exact +GARD:0022055,ICD-10,C25.9,NTBT +GARD:0022056,Orphanet,506098,Exact +GARD:0022056,ICD-10,C25.9,NTBT +GARD:0022057,Orphanet,506112,Exact +GARD:0022057,ICD-10,C25.9,NTBT +GARD:0022058,Orphanet,506136,Exact +GARD:0022058,ICD-10,C15.8,NTBT +GARD:0022059,Orphanet,506207,Exact +GARD:0022060,Orphanet,506210,Exact +GARD:0022061,Orphanet,506213,Exact +GARD:0022062,Orphanet,506216,Exact +GARD:0022063,Orphanet,506219,Exact +GARD:0022064,Orphanet,506222,Exact +GARD:0022065,Orphanet,506225,Exact +GARD:0022066,Orphanet,506784,Exact +GARD:0022066,ICD-10,L51.2,NTBT +GARD:0022067,Orphanet,508410,Exact +GARD:0022068,Orphanet,508476,Exact +GARD:0022069,Orphanet,508501,Exact +GARD:0022070,Orphanet,508533,Exact +GARD:0022071,Orphanet,508542,Exact +GARD:0022072,Orphanet,512017,Exact +GARD:0022072,ICD-10,C91.7,NTBT +GARD:0022072,ICD-11,2A90.2,Exact +GARD:0022073,Orphanet,512034,Exact +GARD:0022074,Orphanet,512103,Exact +GARD:0022075,Orphanet,512260,Exact +GARD:0022075,ICD-10,G11.0,NTBT +GARD:0022076,Orphanet,514352,Exact +GARD:0022077,Orphanet,514980,Exact +GARD:0022078,Orphanet,519264,Exact +GARD:0022079,Orphanet,519266,Exact +GARD:0022080,Orphanet,519268,Exact +GARD:0022081,Orphanet,519270,Exact +GARD:0022082,Orphanet,519272,Exact +GARD:0022083,Orphanet,519274,Exact +GARD:0022084,Orphanet,519276,Exact +GARD:0022085,Orphanet,519278,Exact +GARD:0022085,SNOMED-CT,733312003,NA +GARD:0022086,Orphanet,519280,Exact +GARD:0022087,Orphanet,519282,Exact +GARD:0022088,Orphanet,519284,Exact +GARD:0022089,Orphanet,519286,Exact +GARD:0022090,Orphanet,519288,Exact +GARD:0022091,Orphanet,519290,Exact +GARD:0022092,Orphanet,519292,Exact +GARD:0022093,Orphanet,519294,Exact +GARD:0022094,Orphanet,519296,Exact +GARD:0022095,Orphanet,519298,Exact +GARD:0022096,Orphanet,519300,Exact +GARD:0022097,Orphanet,519302,Exact +GARD:0022098,Orphanet,519304,Exact +GARD:0022099,Orphanet,519306,Exact +GARD:0022100,Orphanet,519309,Exact +GARD:0022101,Orphanet,519311,Exact +GARD:0022102,Orphanet,519313,Exact +GARD:0022103,Orphanet,519315,Exact +GARD:0022104,Orphanet,519317,Exact +GARD:0022105,Orphanet,519319,Exact +GARD:0022106,Orphanet,519321,Exact +GARD:0022107,Orphanet,519323,Exact +GARD:0022108,Orphanet,519325,Exact +GARD:0022109,Orphanet,519327,Exact +GARD:0022110,Orphanet,519329,Exact +GARD:0022111,Orphanet,519331,Exact +GARD:0022112,Orphanet,519333,Exact +GARD:0022113,Orphanet,519337,Exact +GARD:0022114,Orphanet,519339,Exact +GARD:0022115,Orphanet,519341,Exact +GARD:0022116,Orphanet,519343,Exact +GARD:0022117,Orphanet,519345,Exact +GARD:0022118,Orphanet,519347,Exact +GARD:0022119,Orphanet,519349,Exact +GARD:0022120,Orphanet,519351,Exact +GARD:0022121,Orphanet,519353,Exact +GARD:0022122,Orphanet,519355,Exact +GARD:0022123,Orphanet,519386,Exact +GARD:0022123,ICD-10,Q10.2,Exact +GARD:0022123,ICD-11,LA14.02,Exact +GARD:0022124,Orphanet,519390,Exact +GARD:0022124,ICD-11,9A06.8,Exact +GARD:0022124,ICD-10,H02.3,Exact +GARD:0022125,Orphanet,519392,Exact +GARD:0022125,ICD-10,H21.2,NTBT +GARD:0022126,Orphanet,519396,Exact +GARD:0022126,ICD-11,LA12.3,Exact +GARD:0022126,ICD-10,Q12.4,Exact +GARD:0022127,Orphanet,519398,Exact +GARD:0022127,ICD-10,H35.8,NTBT +GARD:0022128,Orphanet,519400,Exact +GARD:0022128,ICD-10,Q14.2,NTBT +GARD:0022129,Orphanet,519402,Exact +GARD:0022129,ICD-10,Q14.2,NTBT +GARD:0022129,ICD-11,LA13.74,Exact +GARD:0022130,Orphanet,519404,Exact +GARD:0022130,ICD-10,Q14.2,NTBT +GARD:0022131,Orphanet,519406,Exact +GARD:0022131,ICD-10,H16.1,NTBT +GARD:0022132,Orphanet,519408,Exact +GARD:0022132,ICD-10,H16.0,NTBT +GARD:0022133,Orphanet,519410,Exact +GARD:0022133,ICD-10,H18.4,NTBT +GARD:0022134,Orphanet,519930,Exact +GARD:0022134,ICD-10,H16.8,NTBT +GARD:0022135,Orphanet,520814,Exact +GARD:0022136,Orphanet,520817,Exact +GARD:0022137,Orphanet,521123,Exact +GARD:0022137,ICD-10,G54.0,NTBT +GARD:0022138,Orphanet,521127,Exact +GARD:0022138,ICD-10,K10.2,NTBT +GARD:0022139,Orphanet,521132,Exact +GARD:0022140,Orphanet,521232,Exact +GARD:0022141,Orphanet,521236,Exact +GARD:0022142,Orphanet,521308,Exact +GARD:0022143,Orphanet,521411,Exact +GARD:0022143,ICD-10,G60.0,NTBT +GARD:0022144,Orphanet,521432,Exact +GARD:0022144,ICD-10,K83.1,NTBT +GARD:0022145,Orphanet,521445,Exact +GARD:0022146,Orphanet,521450,Exact +GARD:0022146,ICD-10,M79.8,NTBT +GARD:0022147,Orphanet,522037,Exact +GARD:0022148,Orphanet,522043,Exact +GARD:0022149,Orphanet,522504,Exact +GARD:0022150,Orphanet,522506,Exact +GARD:0022151,Orphanet,522508,Exact +GARD:0022152,Orphanet,522510,Exact +GARD:0022153,Orphanet,522512,Exact +GARD:0022154,Orphanet,522514,Exact +GARD:0022155,Orphanet,522516,Exact +GARD:0022156,Orphanet,522518,Exact +GARD:0022157,Orphanet,522520,Exact +GARD:0022158,Orphanet,522522,Exact +GARD:0022159,Orphanet,522524,Exact +GARD:0022160,Orphanet,522526,Exact +GARD:0022161,Orphanet,522528,Exact +GARD:0022162,Orphanet,522530,Exact +GARD:0022163,Orphanet,522532,Exact +GARD:0022164,Orphanet,522534,Exact +GARD:0022165,Orphanet,522536,Exact +GARD:0022166,Orphanet,522538,Exact +GARD:0022167,Orphanet,522540,Exact +GARD:0022168,Orphanet,522542,Exact +GARD:0022169,Orphanet,522546,Exact +GARD:0022170,Orphanet,522548,Exact +GARD:0022171,Orphanet,522550,Exact +GARD:0022172,Orphanet,522552,Exact +GARD:0022173,Orphanet,522554,Exact +GARD:0022174,Orphanet,522556,Exact +GARD:0022175,Orphanet,522558,Exact +GARD:0022176,Orphanet,522560,Exact +GARD:0022177,Orphanet,522562,Exact +GARD:0022178,Orphanet,522564,Exact +GARD:0022179,Orphanet,522566,Exact +GARD:0022180,Orphanet,522568,Exact +GARD:0022181,Orphanet,522570,Exact +GARD:0022182,Orphanet,522572,Exact +GARD:0022183,Orphanet,522574,Exact +GARD:0022184,Orphanet,522576,Exact +GARD:0022185,Orphanet,522578,Exact +GARD:0022186,Orphanet,522580,Exact +GARD:0022187,Orphanet,522584,Exact +GARD:0022188,Orphanet,523000,Exact +GARD:0022189,Orphanet,525677,Exact +GARD:0022190,Orphanet,525731,Exact +GARD:0022190,ICD-10,E05.0,NTBT +GARD:0022191,Orphanet,525738,Exact +GARD:0022191,ICD-10,F50.0,NTBT +GARD:0022192,Orphanet,527276,Exact +GARD:0022192,ICD-10,E88.8,NTBT +GARD:0022193,Orphanet,527468,Exact +GARD:0022194,Orphanet,528623,Exact +GARD:0022194,ICD-10,D84.1,NTBT +GARD:0022195,Orphanet,528647,Exact +GARD:0022195,ICD-10,D84.1,NTBT +GARD:0022195,SNOMED-CT,427167008,NA +GARD:0022196,Orphanet,528663,Exact +GARD:0022196,ICD-10,D84.1,NTBT +GARD:0022197,Orphanet,529799,Exact +GARD:0022197,ICD-10,P57.8,NTBT +GARD:0022198,Orphanet,529808,Exact +GARD:0022198,ICD-10,P57.8,NTBT +GARD:0022199,Orphanet,529831,Exact +GARD:0022200,Orphanet,529852,Exact +GARD:0022200,ICD-10,C22.0,BTNT +GARD:0022200,ICD-11,2C12.00,Exact +GARD:0022200,ICD-10,C22.1,BTNT +GARD:0022201,Orphanet,529864,Exact +GARD:0022201,ICD-10,I73.8,NTBT +GARD:0022202,Orphanet,529962,Exact +GARD:0022203,Orphanet,529974,Exact +GARD:0022204,Orphanet,529977,Exact +GARD:0022205,Orphanet,529980,Exact +GARD:0022206,Orphanet,530033,Exact +GARD:0022206,ICD-10,Q07.8,NTBT +GARD:0022207,Orphanet,530298,Exact +GARD:0022207,ICD-10,G40.3,NTBT +GARD:0022208,Orphanet,530303,Exact +GARD:0022208,ICD-10,G40.3,NTBT +GARD:0022209,Orphanet,530313,Exact +GARD:0022210,Orphanet,530792,Exact +GARD:0022210,ICD-10,C71.0,NTBT +GARD:0022211,Orphanet,530983,Exact +GARD:0022212,Orphanet,531151,Exact +GARD:0022212,ICD-10,F78.1,NTBT +GARD:0022213,Orphanet,536391,Exact +GARD:0022214,Orphanet,536471,Exact +GARD:0022214,ICD-10,Q79.6,NTBT +GARD:0022215,Orphanet,536516,Exact +GARD:0022215,ICD-10,Q79.6,NTBT +GARD:0022216,Orphanet,1900,Exact +GARD:0022216,UMLS,C0268342,Exact +GARD:0022216,SNOMED-CT,25606004,NA +GARD:0022216,ICD-10,Q79.6,NTBT +GARD:0022216,OMIM,225400,Exact +GARD:0022217,Orphanet,537072,Exact +GARD:0022217,ICD-10,D84.1,NTBT +GARD:0022218,Orphanet,538101,Exact +GARD:0022218,ICD-10,G60.0,NTBT +GARD:0022219,Orphanet,538238,Exact +GARD:0022220,Orphanet,538863,Exact +GARD:0022220,ICD-10,L88,NTBT +GARD:0022221,Orphanet,538866,Exact +GARD:0022221,ICD-10,L88,NTBT +GARD:0022222,Orphanet,538869,Exact +GARD:0022222,ICD-10,L88,NTBT +GARD:0022223,Orphanet,538872,Exact +GARD:0022223,ICD-10,L88,NTBT +GARD:0022224,Orphanet,541443,Exact +GARD:0022224,ICD-10,Q24.5,NTBT +GARD:0022225,Orphanet,541454,Exact +GARD:0022225,ICD-10,Q24.5,NTBT +GARD:0022226,Orphanet,541478,Exact +GARD:0022226,ICD-10,Q24.5,NTBT +GARD:0022227,Orphanet,541507,Exact +GARD:0022227,ICD-10,Q24.5,NTBT +GARD:0022228,Orphanet,542323,Exact +GARD:0022228,ICD-10,D89.8,NTBT +GARD:0022229,Orphanet,542568,Exact +GARD:0022230,Orphanet,542822,Exact +GARD:0022231,Orphanet,543470,Exact +GARD:0022231,ICD-10,E88.8,NTBT +GARD:0022232,Orphanet,544254,Exact +GARD:0022232,ICD-10,G40.4,NTBT +GARD:0022233,Orphanet,544458,Exact +GARD:0022234,Orphanet,544482,Exact +GARD:0022234,ICD-10,D58.8,NTBT +GARD:0022235,Orphanet,544493,Exact +GARD:0022235,ICD-10,D58.8,NTBT +GARD:0022236,Orphanet,544578,Exact +GARD:0022236,ICD-10,Q62.2,NTBT +GARD:0022237,Orphanet,544590,Exact +GARD:0022238,Orphanet,544628,Exact +GARD:0022238,ICD-10,E13,NTBT +GARD:0022239,Orphanet,555434,Exact +GARD:0022239,ICD-10,K75.8,NTBT +GARD:0022240,Orphanet,555437,Exact +GARD:0022240,ICD-10,K75.8,NTBT +GARD:0022241,Orphanet,555874,Exact +GARD:0022241,ICD-10,Q22.8,NTBT +GARD:0022242,Orphanet,555905,Exact +GARD:0022242,ICD-10,L10.8,NTBT +GARD:0022243,Orphanet,556030,Exact +GARD:0022243,ICD-10,E27.4,NTBT +GARD:0022244,Orphanet,556037,Exact +GARD:0022244,ICD-10,E27.4,NTBT +GARD:0022245,Orphanet,556508,Exact +GARD:0022246,Orphanet,556985,Exact +GARD:0022246,ICD-10,G31.8,NTBT +GARD:0022247,Orphanet,557056,Exact +GARD:0022247,ICD-10,E88.8,NTBT +GARD:0022248,Orphanet,557866,Exact +GARD:0022249,Orphanet,558411,Exact +GARD:0022249,ICD-10,K31.8,NTBT +GARD:0022250,Orphanet,562639,Exact +GARD:0022250,ICD-10,K75.4,NTBT +GARD:0022251,Orphanet,563576,Exact +GARD:0022251,ICD-10,K75.4,NTBT +GARD:0022252,Orphanet,563581,Exact +GARD:0022252,ICD-10,K75.4,NTBT +GARD:0022253,Orphanet,563589,Exact +GARD:0022253,ICD-10,K75.4,NTBT +GARD:0022254,Orphanet,563609,Exact +GARD:0022254,ICD-10,Q00.0,NTBT +GARD:0022254,ICD-11,LA00.00,Exact +GARD:0022254,SNOMED-CT,89369001,NA +GARD:0022255,Orphanet,563612,Exact +GARD:0022255,ICD-11,LA00.00,NTBT +GARD:0022255,ICD-10,Q00.0,NTBT +GARD:0022255,SNOMED-CT,84461004,NA +GARD:0022256,Orphanet,563666,Exact +GARD:0022256,ICD-10,D27,NTBT +GARD:0022256,SNOMED-CT,768924008,NA +GARD:0022257,Orphanet,563671,Exact +GARD:0022257,ICD-10,D27,NTBT +GARD:0022257,SNOMED-CT,768925009,NA +GARD:0022258,SNOMED-CT,818962009,NA +GARD:0022258,Orphanet,563676,Exact +GARD:0022258,ICD-10,D27,NTBT +GARD:0022259,Orphanet,563684,Exact +GARD:0022259,ICD-10,B87.0,NTBT +GARD:0022259,SNOMED-CT,59989004,NA +GARD:0022260,SNOMED-CT,726020009,NA +GARD:0022260,Orphanet,563687,Exact +GARD:0022260,ICD-10,B87.0,NTBT +GARD:0022261,Orphanet,563690,Exact +GARD:0022261,ICD-10,B87.0,NTBT +GARD:0022261,SNOMED-CT,819949002,NA +GARD:0022262,Orphanet,563708,Exact +GARD:0022262,ICD-10,K59.8,NTBT +GARD:0022263,SNOMED-CT,74788000,NA +GARD:0022263,Orphanet,563951,Exact +GARD:0022263,ICD-10,Q38.3,NTBT +GARD:0022264,Orphanet,563954,Exact +GARD:0022264,ICD-10,Q38.3,NTBT +GARD:0022264,SNOMED-CT,32614006,NA +GARD:0022265,Orphanet,564127,Exact +GARD:0022266,Orphanet,564178,Exact +GARD:0022266,ICD-10,E83.4,NTBT +GARD:0022267,Orphanet,565612,Exact +GARD:0022267,ICD-10,E75.5,NTBT +GARD:0022268,Orphanet,565641,Exact +GARD:0022268,ICD-10,K59.8,NTBT +GARD:0022269,Orphanet,565782,Exact +GARD:0022270,Orphanet,565837,Exact +GARD:0022270,ICD-10,G71.0,NTBT +GARD:0022271,Orphanet,565899,Exact +GARD:0022271,ICD-10,G71.0,NTBT +GARD:0022272,Orphanet,565909,Exact +GARD:0022272,ICD-10,G71.0,NTBT +GARD:0022273,Orphanet,566067,Exact +GARD:0022273,ICD-10,D89.8,NTBT +GARD:0022274,Orphanet,566192,Exact +GARD:0022274,ICD-10,D69.4,NTBT +GARD:0022275,Orphanet,566231,Exact +GARD:0022275,ICD-10,E07.8,NTBT +GARD:0022276,Orphanet,566393,Exact +GARD:0022276,ICD-10,C94.3,NTBT +GARD:0022277,Orphanet,566396,Exact +GARD:0022277,ICD-10,C94.3,NTBT +GARD:0022278,Orphanet,566841,Exact +GARD:0022278,ICD-10,D13.4,NTBT +GARD:0022279,Orphanet,566847,Exact +GARD:0022280,Orphanet,566852,Exact +GARD:0022281,Orphanet,566857,Exact +GARD:0022282,Orphanet,566862,Exact +GARD:0022283,Orphanet,566943,Exact +GARD:0022284,Orphanet,567502,Exact +GARD:0022285,Orphanet,567544,Exact +GARD:0022285,ICD-10,N05,NTBT +GARD:0022286,Orphanet,567546,Exact +GARD:0022286,ICD-10,N04.8,NTBT +GARD:0022287,Orphanet,567550,Exact +GARD:0022287,ICD-10,N04.8,NTBT +GARD:0022288,Orphanet,567552,Exact +GARD:0022288,ICD-10,N04.8,NTBT +GARD:0022289,Orphanet,567554,Exact +GARD:0022290,Orphanet,567556,Exact +GARD:0022291,Orphanet,567558,Exact +GARD:0022292,Orphanet,567560,Exact +GARD:0022293,Orphanet,567562,Exact +GARD:0022294,Orphanet,567564,Exact +GARD:0022295,Orphanet,567983,Exact +GARD:0022295,ICD-11,DB99.60,Exact +GARD:0022295,ICD-10,K76.8,NTBT +GARD:0022296,Orphanet,568041,Exact +GARD:0022297,Orphanet,568044,Exact +GARD:0022298,Orphanet,568047,Exact +GARD:0022299,Orphanet,568051,Exact +GARD:0022300,Orphanet,568056,Exact +GARD:0022301,Orphanet,568062,Exact +GARD:0022302,Orphanet,568065,Exact +GARD:0022303,Orphanet,569164,Exact +GARD:0022303,ICD-10,D21.9,NTBT +GARD:0022304,Orphanet,569248,Exact +GARD:0022304,ICD-10,D27,NTBT +GARD:0022305,Orphanet,569274,Exact +GARD:0022305,ICD-10,E88.8,NTBT +GARD:0022306,Orphanet,569816,Exact +GARD:0022307,Orphanet,569821,Exact +GARD:0022308,Orphanet,570371,Exact +GARD:0022308,ICD-10,E26.8,NTBT +GARD:0022309,Orphanet,570431,Exact +GARD:0022309,ICD-10,D47.7,NTBT +GARD:0022310,Orphanet,570438,Exact +GARD:0022310,ICD-10,D47.7,NTBT +GARD:0022311,Orphanet,570470,Exact +GARD:0022311,ICD-10,T62.2,NTBT +GARD:0022312,Orphanet,572333,Exact +GARD:0022313,Orphanet,572428,Exact +GARD:0022314,Orphanet,572761,Exact +GARD:0022315,Orphanet,573163,Exact +GARD:0022316,Orphanet,573253,Exact +GARD:0022317,Orphanet,573278,Exact +GARD:0022318,Orphanet,574918,Exact +GARD:0022318,ICD-10,D84.8,NTBT +GARD:0022319,Orphanet,574957,Exact +GARD:0022319,ICD-10,D84.8,NTBT +GARD:0022320,Orphanet,575553,Exact +GARD:0022320,ICD-10,I67.8,NTBT +GARD:0022321,Orphanet,576074,Exact +GARD:0022322,Orphanet,576227,Exact +GARD:0022323,Orphanet,576232,Exact +GARD:0022324,Orphanet,576235,Exact +GARD:0022325,Orphanet,576242,Exact +GARD:0022326,Orphanet,576278,Exact +GARD:0022327,Orphanet,576356,Exact +GARD:0022328,Orphanet,576360,Exact +GARD:0022329,Orphanet,576379,Exact +GARD:0022329,ICD-11,8E01.0,Exact +GARD:0022329,ICD-10,A81.0,NTBT +GARD:0022330,Orphanet,576742,Exact +GARD:0022331,Orphanet,580572,Exact +GARD:0022331,ICD-10,C25.8,NTBT +GARD:0022332,Orphanet,580933,Exact +GARD:0022333,Orphanet,583097,Exact +GARD:0022333,ICD-10,Q87.3,NTBT +GARD:0022334,Orphanet,583595,Exact +GARD:0022334,ICD-10,E72.8,NTBT +GARD:0022335,Orphanet,583602,Exact +GARD:0022335,ICD-10,E88.8,NTBT +GARD:0022336,Orphanet,583607,Exact +GARD:0022336,ICD-10,E88.8,NTBT +GARD:0022337,Orphanet,583612,Exact +GARD:0022337,ICD-10,E88.8,NTBT +GARD:0022338,Orphanet,583856,Exact +GARD:0022338,ICD-11,DB98.4,Exact +GARD:0022338,ICD-10,I82.8,NTBT +GARD:0022339,Orphanet,583861,Exact +GARD:0022339,ICD-10,K55.0,NTBT +GARD:0022339,ICD-11,DD30.2,Exact +GARD:0022340,Orphanet,585867,Exact +GARD:0022340,ICD-10,C92.7,NTBT +GARD:0022341,Orphanet,585877,Exact +GARD:0022341,ICD-10,C91.0,NTBT +GARD:0022342,Orphanet,585909,Exact +GARD:0022342,ICD-10,C91.0,NTBT +GARD:0022342,ICD-11,2A70.1,Exact +GARD:0022343,Orphanet,585918,Exact +GARD:0022343,ICD-10,C91.0,NTBT +GARD:0022344,Orphanet,585929,Exact +GARD:0022344,ICD-10,C91.0,NTBT +GARD:0022345,Orphanet,585936,Exact +GARD:0022345,ICD-10,C91.0,NTBT +GARD:0022346,Orphanet,585942,Exact +GARD:0022346,ICD-10,C91.0,NTBT +GARD:0022347,Orphanet,585948,Exact +GARD:0022347,ICD-10,C91.0,NTBT +GARD:0022348,Orphanet,585956,Exact +GARD:0022348,ICD-10,C91.0,NTBT +GARD:0022349,Orphanet,586130,Exact +GARD:0022349,ICD-10,A81.9,NTBT +GARD:0022350,Orphanet,589442,Exact +GARD:0022351,Orphanet,589515,Exact +GARD:0022351,ICD-10,G11.8,NTBT +GARD:0022352,Orphanet,589522,Exact +GARD:0022352,ICD-10,G11.8,NTBT +GARD:0022353,Orphanet,589527,Exact +GARD:0022353,ICD-10,G11.8,NTBT +GARD:0022354,Orphanet,589534,Exact +GARD:0022354,ICD-10,C92.7,NTBT +GARD:0022355,Orphanet,589542,Exact +GARD:0022355,ICD-10,D47.1,NTBT +GARD:0022356,Orphanet,589547,Exact +GARD:0022356,ICD-10,F84.8,NTBT +GARD:0022357,Orphanet,589595,Exact +GARD:0022357,ICD-10,C92.6,NTBT +GARD:0022358,Orphanet,589608,Exact +GARD:0022359,Orphanet,589618,Exact +GARD:0022359,ICD-10,G24.8,NTBT +GARD:0022360,Orphanet,589746,Exact +GARD:0022361,Orphanet,589821,Exact +GARD:0022361,ICD-10,G71.1,NTBT +GARD:0022362,Orphanet,589824,Exact +GARD:0022362,ICD-10,G71.1,NTBT +GARD:0022363,Orphanet,589827,Exact +GARD:0022363,ICD-10,G71.1,NTBT +GARD:0022364,Orphanet,589830,Exact +GARD:0022364,ICD-10,G71.1,NTBT +GARD:0022365,Orphanet,589833,Exact +GARD:0022365,ICD-10,G71.1,NTBT +GARD:0022366,Orphanet,589856,Exact +GARD:0022367,Orphanet,589905,Exact +GARD:0022368,Orphanet,590539,Exact +GARD:0022368,ICD-10,D36.1,NTBT +GARD:0022369,Orphanet,592564,Exact +GARD:0022369,ICD-10,F84.8,NTBT +GARD:0022370,Orphanet,592570,Exact +GARD:0022371,Orphanet,592574,Exact +GARD:0022372,Orphanet,592850,Exact +GARD:0022372,ICD-11,8A43.0,Exact +GARD:0022372,ICD-10,G36.0,NTBT +GARD:0022373,Orphanet,592856,Exact +GARD:0022373,ICD-10,G36.0,NTBT +GARD:0022373,ICD-11,8A41.1,Exact +GARD:0022374,Orphanet,592869,Exact +GARD:0022374,ICD-10,G36.0,NTBT +GARD:0022375,Orphanet,592873,Exact +GARD:0022375,ICD-10,G37.3,NTBT +GARD:0022376,Orphanet,592885,Exact +GARD:0022377,Orphanet,592888,Exact +GARD:0022378,Orphanet,592894,Exact +GARD:0022378,ICD-10,G04.0,NTBT +GARD:0022379,Orphanet,592900,Exact +GARD:0022379,ICD-10,G04.0,NTBT +GARD:0022380,Orphanet,595098,Exact +GARD:0022380,ICD-10,I49.8,NTBT +GARD:0022381,Orphanet,595105,Exact +GARD:0022381,ICD-10,I49.8,NTBT +GARD:0022382,Orphanet,595109,Exact +GARD:0022382,ICD-10,I49.8,NTBT +GARD:0022383,Orphanet,595133,Exact +GARD:0022383,ICD-10,D21.9,NTBT +GARD:0022384,Orphanet,595216,Exact +GARD:0022385,Orphanet,595337,Exact +GARD:0022386,Orphanet,595346,Exact +GARD:0022387,Orphanet,595351,Exact +GARD:0022388,Orphanet,595356,Exact +GARD:0022389,Orphanet,596008,Exact +GARD:0022390,Orphanet,596426,Exact +GARD:0022391,Orphanet,596448,Exact +GARD:0022392,Orphanet,596759,Exact +GARD:0022393,Orphanet,596937,Exact +GARD:0022393,ICD-10,K76.8,NTBT +GARD:0022394,Orphanet,596941,Exact +GARD:0022394,ICD-10,K74.6,NTBT +GARD:0022395,Orphanet,597201,Exact +GARD:0022396,Orphanet,597623,Exact +GARD:0022397,Orphanet,597743,Exact +GARD:0022398,Orphanet,597746,Exact +GARD:0022399,Orphanet,597749,Exact +GARD:0022400,Orphanet,597887,Exact +GARD:0022401,Orphanet,597939,Exact +GARD:0022402,Orphanet,598164,Exact +GARD:0022403,Orphanet,598363,Exact +GARD:0022403,ICD-10,U10.9,NTBT +GARD:0022404,Orphanet,599373,Exact +GARD:0022405,Orphanet,599376,Exact +GARD:0022406,Orphanet,599418,Exact +GARD:0022407,Orphanet,599485,Exact +GARD:0022408,Orphanet,599490,Exact +GARD:0022409,Orphanet,599495,Exact +GARD:0022410,Orphanet,599501,Exact +GARD:0022411,Orphanet,599507,Exact +GARD:0022412,Orphanet,599513,Exact +GARD:0022413,Orphanet,599519,Exact +GARD:0022414,Orphanet,599579,Exact +GARD:0022415,Orphanet,600194,Exact 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+GARD:0022442,MedDRA,C0239495,Exact +GARD:0022442,ICD-11,EF40.20,Exact +GARD:0022442,ICD-10,L92.2,Exact +GARD:0022442,UMLS,C0239495,Exact +GARD:0022443,Orphanet,615970,Exact +GARD:0022444,Orphanet,616874,Exact +GARD:0022445,Orphanet,617294,Exact +GARD:0022446,Orphanet,617297,Exact +GARD:0022447,Orphanet,617301,Exact +GARD:0022448,Orphanet,617304,Exact +GARD:0022449,Orphanet,617307,Exact +GARD:0022450,Orphanet,617310,Exact +GARD:0022451,Orphanet,617313,Exact +GARD:0022452,Orphanet,617408,Exact +GARD:0022453,Orphanet,617449,Exact +GARD:0022454,Orphanet,617919,Exact +GARD:0022455,Orphanet,617930,Exact +GARD:0022456,Orphanet,618891,Exact +GARD:0022457,Orphanet,618899,Exact +GARD:0022458,Orphanet,619233,Exact +GARD:0022459,Orphanet,619249,Exact +GARD:0022460,Orphanet,619284,Exact +GARD:0022461,Orphanet,619340,Exact +GARD:0022462,Orphanet,619363,Exact +GARD:0022463,Orphanet,619367,Exact +GARD:0022464,Orphanet,619941,Exact +GARD:0022465,Orphanet,619948,Exact 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+GARD:0022515,Orphanet,97929,Exact +GARD:0022516,Orphanet,97935,Exact +GARD:0022517,Orphanet,97955,Exact +GARD:0022518,Orphanet,97962,Exact +GARD:0022519,Orphanet,97965,Exact +GARD:0022520,Orphanet,97966,Exact +GARD:0022521,Orphanet,97978,Exact +GARD:0022522,Orphanet,97992,Exact +GARD:0022523,Orphanet,98004,Exact +GARD:0022524,Orphanet,98006,Exact +GARD:0022525,Orphanet,98023,Exact +GARD:0022526,Orphanet,98026,Exact +GARD:0022527,Orphanet,98028,Exact +GARD:0022528,Orphanet,98036,Exact +GARD:0022529,Orphanet,98047,Exact +GARD:0022530,Orphanet,98050,Exact +GARD:0022531,Orphanet,98053,Exact +GARD:0022532,Orphanet,101433,Exact +GARD:0022533,Orphanet,108999,Exact +GARD:0022534,Orphanet,165711,Exact +GARD:0022535,Orphanet,250908,Exact +GARD:0022536,Orphanet,565779,Exact +GARD:0022537,OMIM,249500,Exact +GARD:0022537,DiseaseOntology,60308,NA +GARD:0022537,UMLS,C1855304,NA +GARD:0022537,GeneticAlliance,8833,NA +GARD:0022538,OMIM,607417,Exact +GARD:0022538,DiseaseOntology,60308,NA +GARD:0022538,GeneticAlliance,8839,NA +GARD:0022538,UMLS,C1843942,NA +GARD:0022539,OMIM,608443,Exact +GARD:0022539,GeneticAlliance,8840,NA +GARD:0022539,UMLS,C1838023,NA +GARD:0022539,DiseaseOntology,60308,NA +GARD:0022540,OMIM,611090,Exact +GARD:0022540,UMLS,C1970200,NA +GARD:0022540,DiseaseOntology,60308,NA +GARD:0022540,GeneticAlliance,8834,NA +GARD:0022541,OMIM,611091,Exact +GARD:0022541,UMLS,C1970199,NA +GARD:0022541,DiseaseOntology,60308,NA +GARD:0022542,OMIM,611092,Exact +GARD:0022542,GeneticAlliance,8842,NA +GARD:0022542,DiseaseOntology,60308,NA +GARD:0022542,UMLS,C1970198,NA +GARD:0022543,OMIM,611093,Exact +GARD:0022543,DiseaseOntology,60308,NA +GARD:0022543,GeneticAlliance,8843,NA +GARD:0022543,UMLS,C1970197,NA +GARD:0022544,OMIM,611095,Exact +GARD:0022544,DiseaseOntology,60308,NA +GARD:0022544,UMLS,C1970195,NA +GARD:0022545,OMIM,611096,Exact +GARD:0022545,UMLS,C1970194,NA +GARD:0022545,DiseaseOntology,60308,NA +GARD:0022546,OMIM,611097,Exact +GARD:0022546,UMLS,C1970193,NA +GARD:0022546,DiseaseOntology,60308,NA +GARD:0022547,OMIM,611107,Exact +GARD:0022547,UMLS,C1970179,NA +GARD:0022547,DiseaseOntology,60308,NA +GARD:0022548,OMIM,613192,Exact +GARD:0022548,UMLS,C2750791,NA +GARD:0022548,DiseaseOntology,81098,NA +GARD:0022548,GeneticAlliance,8835,NA +GARD:0022549,OMIM,614020,Exact +GARD:0022549,UMLS,C3151462,NA +GARD:0022549,GeneticAlliance,8836,NA +GARD:0022549,DiseaseOntology,60308,NA +GARD:0022550,OMIM,614202,Exact +GARD:0022550,GeneticAlliance,8837,NA +GARD:0022550,DiseaseOntology,81097,NA +GARD:0022550,UMLS,C3280127,NA +GARD:0022551,OMIM,614208,Exact +GARD:0022551,DiseaseOntology,60308,NA +GARD:0022551,UMLS,C3280154,NA +GARD:0022552,OMIM,614249,Exact +GARD:0022552,GeneticAlliance,8838,NA +GARD:0022552,UMLS,C3280265,NA +GARD:0022552,DiseaseOntology,60308,NA +GARD:0022553,OMIM,614329,Exact +GARD:0022553,UMLS,C3280523,NA +GARD:0022553,DiseaseOntology,60308,NA +GARD:0022554,OMIM,614333,Exact +GARD:0022554,UMLS,C3280525,NA +GARD:0022554,DiseaseOntology,60308,NA +GARD:0022555,OMIM,614340,Exact +GARD:0022555,UMLS,C3280538,NA +GARD:0022555,DiseaseOntology,60308,NA +GARD:0022556,OMIM,614341,Exact +GARD:0022556,UMLS,C3280539,NA +GARD:0022556,DiseaseOntology,60308,NA +GARD:0022557,OMIM,614342,Exact +GARD:0022557,UMLS,C3280540,NA +GARD:0022557,DiseaseOntology,60308,NA +GARD:0022558,OMIM,614343,Exact +GARD:0022558,DiseaseOntology,60308,NA +GARD:0022558,UMLS,C3280541,NA +GARD:0022559,OMIM,614344,Exact +GARD:0022559,DiseaseOntology,60308,NA +GARD:0022559,UMLS,C3280542,NA +GARD:0022560,OMIM,614345,Exact +GARD:0022560,DiseaseOntology,60308,NA +GARD:0022560,UMLS,C3280543,NA +GARD:0022561,OMIM,614346,Exact +GARD:0022561,UMLS,C3280544,NA +GARD:0022561,DiseaseOntology,60308,NA +GARD:0022562,OMIM,614347,Exact +GARD:0022562,UMLS,C3280545,NA +GARD:0022562,DiseaseOntology,60308,NA +GARD:0022563,OMIM,614499,Exact +GARD:0022563,UMLS,C3281044,NA +GARD:0022563,DiseaseOntology,60308,NA +GARD:0022563,GeneticAlliance,8841,NA +GARD:0022564,OMIM,615802,Exact +GARD:0022564,UMLS,C4014343,NA +GARD:0022564,DiseaseOntology,60308,NA +GARD:0022565,OMIM,615817,Exact +GARD:0022565,UMLS,C4014386,NA +GARD:0022565,DiseaseOntology,60308,NA +GARD:0022566,OMIM,615942,Exact +GARD:0022566,UMLS,C4014745,NA +GARD:0022566,DiseaseOntology,60308,NA +GARD:0022567,OMIM,615979,Exact +GARD:0022567,UMLS,C4014864,NA +GARD:0022568,OMIM,616116,Exact +GARD:0022568,UMLS,C4015283,NA +GARD:0022569,OMIM,616193,Exact +GARD:0022569,UMLS,C4015444,NA +GARD:0022570,OMIM,616460,Exact +GARD:0022570,UMLS,C4225319,NA +GARD:0022571,OMIM,616739,Exact +GARD:0022571,UMLS,C4225220,NA +GARD:0022572,OMIM,616887,Exact +GARD:0022572,UMLS,C4225168,NA +GARD:0022573,OMIM,617028,Exact +GARD:0022573,UMLS,C4310755,NA +GARD:0022574,OMIM,617125,Exact +GARD:0022574,UMLS,C4310703,NA +GARD:0022575,OMIM,617188,Exact +GARD:0022575,UMLS,C4310673,NA +GARD:0022576,OMIM,617709,Exact +GARD:0022576,UMLS,C4540188,NA +GARD:0022577,OMIM,617816,Exact +GARD:0022577,UMLS,C4540521,NA +GARD:0022578,OMIM,618109,Exact +GARD:0022578,UMLS,C4748219,NA +GARD:0022579,OMIM,618221,Exact +GARD:0022579,UMLS,C4748732,NA +GARD:0022580,OMIM,618402,Exact +GARD:0022580,UMLS,C5193077,NA +GARD:0022581,OMIM,618687,Exact +GARD:0022581,UMLS,C5231462,NA +GARD:0022581,DiseaseOntology,111674,NA +GARD:0022582,OMIM,600060,Exact +GARD:0022582,UMLS,C1838701,NA +GARD:0022582,GeneticAlliance,8161,NA +GARD:0022582,DiseaseOntology,110477,NA +GARD:0022583,OMIM,600316,Exact +GARD:0022583,GeneticAlliance,8169,NA +GARD:0022583,UMLS,C1838263,NA +GARD:0022583,DiseaseOntology,110488,NA +GARD:0022584,OMIM,600791,Exact +GARD:0022584,UMLS,C3538946,NA +GARD:0022584,GeneticAlliance,2542,NA +GARD:0022584,DiseaseOntology,110498,NA +GARD:0022585,OMIM,600792,Exact +GARD:0022585,DiseaseOntology,110507,NA +GARD:0022585,UMLS,C1833319,NA +GARD:0022586,OMIM,600971,Exact +GARD:0022586,UMLS,C1832992,NA +GARD:0022586,DiseaseOntology,110512,NA +GARD:0022586,GeneticAlliance,8180,NA +GARD:0022587,OMIM,600974,Exact +GARD:0022587,GeneticAlliance,8184,NA +GARD:0022587,UMLS,C1832978,NA +GARD:0022587,DiseaseOntology,110520,NA +GARD:0022588,OMIM,601071,Exact +GARD:0022588,UMLS,C1832830,NA +GARD:0022588,DiseaseOntology,110535,NA +GARD:0022588,UMLS,C1832828,NA +GARD:0022588,GeneticAlliance,8190,NA +GARD:0022589,OMIM,601072,Exact +GARD:0022589,DiseaseOntology,110527,NA +GARD:0022589,UMLS,C1832827,NA +GARD:0022589,UMLS,C1854414,NA +GARD:0022589,GeneticAlliance,8192,NA +GARD:0022590,OMIM,601386,Exact +GARD:0022590,GeneticAlliance,8155,NA +GARD:0022590,DiseaseOntology,110467,NA +GARD:0022590,UMLS,C1832394,NA +GARD:0022591,OMIM,601869,Exact +GARD:0022591,GeneticAlliance,8156,NA +GARD:0022591,UMLS,C1866094,NA +GARD:0022591,DiseaseOntology,110470,NA +GARD:0022592,OMIM,602092,Exact +GARD:0022592,DiseaseOntology,110473,NA +GARD:0022592,GeneticAlliance,8158,NA +GARD:0022592,UMLS,C1865870,NA +GARD:0022593,OMIM,603010,Exact +GARD:0022593,UMLS,C1864276,NA +GARD:0022593,DiseaseOntology,110472,NA +GARD:0022594,OMIM,603098,Exact +GARD:0022594,UMLS,C1864199,NA +GARD:0022594,DiseaseOntology,110468,NA +GARD:0022595,OMIM,603629,Exact +GARD:0022595,UMLS,C1863655,NA +GARD:0022595,DiseaseOntology,110479,NA +GARD:0022595,GeneticAlliance,8162,NA +GARD:0022596,OMIM,603678,Exact +GARD:0022596,DiseaseOntology,110469,NA +GARD:0022596,UMLS,C1863613,NA +GARD:0022597,OMIM,603720,Exact +GARD:0022597,GeneticAlliance,8157,NA +GARD:0022597,UMLS,C1863561,NA +GARD:0022597,DiseaseOntology,110471,NA +GARD:0022598,OMIM,604060,Exact +GARD:0022598,UMLS,C1858840,NA +GARD:0022598,DiseaseOntology,110478,NA +GARD:0022599,OMIM,605428,Exact +GARD:0022599,UMLS,C1854275,NA +GARD:0022599,DiseaseOntology,110484,NA +GARD:0022600,OMIM,605818,Exact +GARD:0022600,UMLS,C1853941,NA +GARD:0022600,DiseaseOntology,110485,NA +GARD:0022601,OMIM,607039,Exact +GARD:0022601,DiseaseOntology,110480,NA +GARD:0022601,UMLS,C1846896,NA +GARD:0022601,GeneticAlliance,8163,NA +GARD:0022602,OMIM,607084,Exact +GARD:0022602,DiseaseOntology,110490,NA +GARD:0022602,GeneticAlliance,8171,NA +GARD:0022602,UMLS,C1846839,NA +GARD:0022603,OMIM,607101,Exact +GARD:0022603,DiseaseOntology,110489,NA +GARD:0022603,UMLS,C1846784,NA +GARD:0022603,GeneticAlliance,8170,NA +GARD:0022604,OMIM,607239,Exact +GARD:0022604,DiseaseOntology,110492,NA +GARD:0022604,UMLS,C1846576,NA +GARD:0022605,OMIM,607821,Exact +GARD:0022605,UMLS,C1843028,NA +GARD:0022605,GeneticAlliance,8174,NA +GARD:0022605,DiseaseOntology,110495,NA +GARD:0022606,OMIM,608219,Exact +GARD:0022606,DiseaseOntology,110496,NA +GARD:0022606,UMLS,C1842381,NA +GARD:0022607,OMIM,608264,Exact +GARD:0022607,UMLS,C1842345,NA +GARD:0022607,DiseaseOntology,110499,NA +GARD:0022608,OMIM,608265,Exact +GARD:0022608,UMLS,C1842342,NA +GARD:0022608,DiseaseOntology,110497,NA +GARD:0022608,GeneticAlliance,8175,NA +GARD:0022609,OMIM,608565,Exact +GARD:0022609,GeneticAlliance,8172,NA +GARD:0022609,DiseaseOntology,110493,NA +GARD:0022609,UMLS,C1837857,NA +GARD:0022610,OMIM,608653,Exact +GARD:0022610,DiseaseOntology,110491,NA +GARD:0022610,UMLS,C1837608,NA +GARD:0022611,OMIM,609006,Exact +GARD:0022611,GeneticAlliance,8173,NA +GARD:0022611,UMLS,C1837007,NA +GARD:0022611,DiseaseOntology,110494,NA +GARD:0022612,OMIM,609439,Exact +GARD:0022612,DiseaseOntology,110505,NA +GARD:0022612,UMLS,C1836199,NA +GARD:0022613,OMIM,609533,Exact +GARD:0022613,DiseaseOntology,110481,NA +GARD:0022613,GeneticAlliance,8164,NA +GARD:0022613,UMLS,C1836027,NA +GARD:0022614,OMIM,609646,Exact +GARD:0022614,DiseaseOntology,110500,NA +GARD:0022614,GeneticAlliance,8176,NA +GARD:0022614,UMLS,C1864818,NA +GARD:0022615,OMIM,609647,Exact +GARD:0022615,DiseaseOntology,110503,NA +GARD:0022615,UMLS,C1864815,NA +GARD:0022616,OMIM,609706,Exact +GARD:0022616,UMLS,C1864746,NA +GARD:0022616,GeneticAlliance,8178,NA +GARD:0022616,DiseaseOntology,110509,NA +GARD:0022617,OMIM,609823,Exact +GARD:0022617,UMLS,C1853276,NA +GARD:0022617,GeneticAlliance,8167,NA +GARD:0022617,DiseaseOntology,110486,NA +GARD:0022618,OMIM,610143,Exact +GARD:0022618,DiseaseOntology,110514,NA +GARD:0022618,UMLS,C1857820,NA +GARD:0022619,OMIM,610153,Exact +GARD:0022619,GeneticAlliance,8177,NA +GARD:0022619,UMLS,C1857811,NA +GARD:0022619,DiseaseOntology,110506,NA +GARD:0022620,OMIM,610154,Exact +GARD:0022620,UMLS,C1857809,NA +GARD:0022620,DiseaseOntology,110501,NA +GARD:0022621,OMIM,610212,Exact +GARD:0022621,UMLS,C1857750,NA +GARD:0022621,DiseaseOntology,110517,NA +GARD:0022622,OMIM,610220,Exact +GARD:0022622,UMLS,C1857744,NA +GARD:0022622,DiseaseOntology,110511,NA +GARD:0022622,GeneticAlliance,8179,NA +GARD:0022623,OMIM,610248,Exact +GARD:0022623,UMLS,C1853248,NA +GARD:0022623,DiseaseOntology,110516,NA +GARD:0022624,OMIM,610265,Exact +GARD:0022624,GeneticAlliance,8183,NA +GARD:0022624,GeneticsHomeReference,https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss,NA +GARD:0022624,UMLS,C1853223,NA +GARD:0022624,DiseaseOntology,110518,NA +GARD:0022625,OMIM,610419,Exact +GARD:0022625,UMLS,C1835854,NA +GARD:0022625,DiseaseOntology,110519,NA +GARD:0022626,OMIM,611022,Exact +GARD:0022626,GeneticAlliance,8165,NA +GARD:0022626,UMLS,C1970239,NA +GARD:0022626,DiseaseOntology,110482,NA +GARD:0022627,OMIM,611451,Exact +GARD:0022627,DiseaseOntology,110515,NA +GARD:0022627,UMLS,C1969621,NA +GARD:0022627,GeneticAlliance,8182,NA +GARD:0022628,OMIM,612433,Exact +GARD:0022628,UMLS,C3888030,NA +GARD:0022628,DiseaseOntology,110502,NA +GARD:0022629,OMIM,612645,Exact +GARD:0022629,GeneticAlliance,8160,NA +GARD:0022629,UMLS,C2675235,NA +GARD:0022629,DiseaseOntology,110476,NA +GARD:0022630,OMIM,612789,Exact +GARD:0022630,DiseaseOntology,110522,NA +GARD:0022630,UMLS,C2748554,NA +GARD:0022631,OMIM,613079,Exact +GARD:0022631,GeneticAlliance,8186,NA +GARD:0022631,UMLS,C2746083,NA +GARD:0022631,DiseaseOntology,110525,NA +GARD:0022632,OMIM,613285,Exact +GARD:0022632,DiseaseOntology,110483,NA +GARD:0022632,UMLS,C1414017,NA +GARD:0022632,GeneticAlliance,8166,NA +GARD:0022633,OMIM,613307,Exact +GARD:0022633,DiseaseOntology,110526,NA +GARD:0022633,GeneticAlliance,8187,NA +GARD:0022633,UMLS,C2750082,NA +GARD:0022634,OMIM,613391,Exact +GARD:0022634,UMLS,C3150654,NA +GARD:0022634,DiseaseOntology,110529,NA +GARD:0022634,GeneticAlliance,8189,NA +GARD:0022635,OMIM,613392,Exact +GARD:0022635,DiseaseOntology,110531,NA +GARD:0022635,UMLS,C3160740,NA +GARD:0022636,OMIM,613453,Exact +GARD:0022636,UMLS,C3150704,NA +GARD:0022636,GeneticAlliance,8191,NA +GARD:0022636,DiseaseOntology,110536,NA +GARD:0022637,OMIM,613685,Exact +GARD:0022637,DiseaseOntology,110528,NA +GARD:0022637,UMLS,C3888310,NA +GARD:0022638,OMIM,613718,Exact +GARD:0022638,DiseaseOntology,110523,NA +GARD:0022638,UMLS,C2239351,NA +GARD:0022638,GeneticAlliance,8185,NA +GARD:0022639,OMIM,613865,Exact +GARD:0022639,UMLS,C3151230,NA +GARD:0022639,DiseaseOntology,110513,NA +GARD:0022639,GeneticAlliance,8181,NA +GARD:0022640,OMIM,613916,Exact +GARD:0022640,DiseaseOntology,110534,NA +GARD:0022640,UMLS,C3151351,NA +GARD:0022641,OMIM,614035,Exact +GARD:0022641,UMLS,C3279660,NA +GARD:0022641,DiseaseOntology,110487,NA +GARD:0022641,GeneticAlliance,8168,NA +GARD:0022642,OMIM,614414,Exact +GARD:0022642,DiseaseOntology,110538,NA +GARD:0022642,UMLS,C3888337,NA +GARD:0022643,OMIM,614617,Exact +GARD:0022643,UMLS,C2829265,NA +GARD:0022643,DiseaseOntology,110532,NA +GARD:0022644,OMIM,614861,Exact +GARD:0022644,UMLS,C3553932,NA +GARD:0022644,DiseaseOntology,110540,NA +GARD:0022645,OMIM,614899,Exact +GARD:0022645,UMLS,C3888355,NA +GARD:0022645,DiseaseOntology,110537,NA +GARD:0022646,OMIM,614934,Exact +GARD:0022646,UMLS,C1824925,NA +GARD:0022646,DiseaseOntology,110521,NA +GARD:0022647,OMIM,614944,Exact +GARD:0022647,UMLS,C3554159,NA +GARD:0022647,DiseaseOntology,110530,NA +GARD:0022648,OMIM,614945,Exact +GARD:0022648,UMLS,C3554163,NA +GARD:0022648,DiseaseOntology,110474,NA +GARD:0022649,OMIM,615429,Exact +GARD:0022649,UMLS,C2829267,NA +GARD:0022649,DiseaseOntology,110533,NA +GARD:0022650,OMIM,615540,Exact +GARD:0022650,UMLS,C3147083,NA +GARD:0022650,DiseaseOntology,110524,NA +GARD:0022651,OMIM,615837,Exact +GARD:0022651,UMLS,C3892049,NA +GARD:0022651,DiseaseOntology,110462,NA +GARD:0022652,OMIM,615974,Exact +GARD:0022652,DiseaseOntology,110463,NA +GARD:0022652,UMLS,C3892050,NA +GARD:0022653,OMIM,616042,Exact +GARD:0022653,DiseaseOntology,110464,NA +GARD:0022653,UMLS,C4015050,NA +GARD:0022654,OMIM,616515,Exact +GARD:0022654,UMLS,C4225298,NA +GARD:0022654,DiseaseOntology,110465,NA +GARD:0022655,OMIM,616705,Exact +GARD:0022655,UMLS,C4084709,NA +GARD:0022655,DiseaseOntology,110539,NA +GARD:0022656,OMIM,617637,Exact +GARD:0022656,DiseaseOntology,80261,NA +GARD:0022656,UMLS,C4539954,NA +GARD:0022657,OMIM,617639,Exact +GARD:0022657,UMLS,C4539964,NA +GARD:0022657,DiseaseOntology,80262,NA +GARD:0022658,OMIM,617654,Exact +GARD:0022658,UMLS,C4539997,NA +GARD:0022658,DiseaseOntology,80263,NA +GARD:0022659,OMIM,618145,Exact +GARD:0022659,UMLS,C4748374,NA +GARD:0022659,DiseaseOntology,111640,NA +GARD:0022660,OMIM,618422,Exact +GARD:0022660,UMLS,C5193087,NA +GARD:0022660,DiseaseOntology,111638,NA +GARD:0022661,OMIM,618434,Exact +GARD:0022661,DiseaseOntology,111641,NA +GARD:0022661,UMLS,C5193096,NA +GARD:0022662,OMIM,618456,Exact +GARD:0022662,DiseaseOntology,111642,NA +GARD:0022662,UMLS,C5193107,NA +GARD:0022663,OMIM,618481,Exact +GARD:0022663,DiseaseOntology,111634,NA +GARD:0022663,UMLS,C4760579,NA +GARD:0022664,OMIM,619093,Exact +GARD:0022664,DiseaseOntology,112162,NA +GARD:0022664,UMLS,C5436789,NA +GARD:0022665,OMIM,619174,Exact +GARD:0022665,UMLS,C5436937,NA +GARD:0022666,OMIM,300046,Exact +GARD:0022666,UMLS,C0796229,NA +GARD:0022666,DiseaseOntology,112049,NA +GARD:0022667,OMIM,300047,Exact +GARD:0022667,UMLS,C0796226,NA +GARD:0022667,DiseaseOntology,112023,NA +GARD:0022668,OMIM,300115,Exact +GARD:0022668,DiseaseOntology,112029,NA +GARD:0022668,UMLS,C1848087,NA +GARD:0022669,OMIM,300143,Exact +GARD:0022669,UMLS,C0796241,NA +GARD:0022669,DiseaseOntology,112022,NA +GARD:0022669,UMLS,C5551510,NA +GARD:0022669,GeneticAlliance,9497,NA +GARD:0022670,OMIM,300210,Exact +GARD:0022670,DiseaseOntology,112024,NA +GARD:0022670,UMLS,C1846174,NA +GARD:0022670,GeneticAlliance,9502,NA +GARD:0022671,OMIM,300271,Exact +GARD:0022671,UMLS,C1846038,NA +GARD:0022671,DiseaseOntology,112059,NA +GARD:0022671,GeneticAlliance,8848,NA +GARD:0022672,OMIM,300324,Exact +GARD:0022672,DiseaseOntology,112047,NA +GARD:0022672,UMLS,C1845889,NA +GARD:0022673,OMIM,300355,Exact +GARD:0022673,DiseaseOntology,112017,NA +GARD:0022673,UMLS,C1845860,NA +GARD:0022674,OMIM,300372,Exact +GARD:0022674,UMLS,C1845810,NA +GARD:0022674,DiseaseOntology,112057,NA +GARD:0022675,OMIM,300428,Exact +GARD:0022675,DiseaseOntology,112016,NA +GARD:0022675,UMLS,C0796207,NA +GARD:0022676,OMIM,300433,Exact +GARD:0022676,DiseaseOntology,112033,NA +GARD:0022676,UMLS,C1845531,NA +GARD:0022677,OMIM,300436,Exact +GARD:0022677,UMLS,C1845526,NA +GARD:0022677,DiseaseOntology,112055,NA +GARD:0022677,GeneticAlliance,9501,NA +GARD:0022678,OMIM,300454,Exact +GARD:0022678,UMLS,C1845499,NA +GARD:0022678,DiseaseOntology,112039,NA +GARD:0022679,OMIM,300498,Exact +GARD:0022679,UMLS,C1845333,NA +GARD:0022679,GeneticAlliance,8847,NA +GARD:0022679,DiseaseOntology,112028,NA +GARD:0022680,OMIM,300505,Exact +GARD:0022680,UMLS,C1845297,NA +GARD:0022680,DiseaseOntology,112030,NA +GARD:0022681,OMIM,300518,Exact +GARD:0022681,DiseaseOntology,112052,NA +GARD:0022681,UMLS,C1845286,NA +GARD:0022682,OMIM,300558,Exact +GARD:0022682,UMLS,C0796249,NA +GARD:0022682,DiseaseOntology,112051,NA +GARD:0022682,UMLS,C0796237,NA +GARD:0022682,GeneticAlliance,9499,NA +GARD:0022683,OMIM,300705,Exact +GARD:0022683,UMLS,C0796223,NA +GARD:0022683,UMLS,C0796238,NA +GARD:0022683,GeneticAlliance,9496,NA +GARD:0022683,DiseaseOntology,112037,NA +GARD:0022684,OMIM,300716,Exact +GARD:0022684,DiseaseOntology,50776,NA +GARD:0022684,UMLS,C2678034,NA +GARD:0022684,GeneticAlliance,9510,NA +GARD:0022685,OMIM,300802,Exact +GARD:0022685,DiseaseOntology,112035,NA +GARD:0022685,GeneticAlliance,8850,NA +GARD:0022685,UMLS,C3275408,NA +GARD:0022686,OMIM,300803,Exact +GARD:0022686,UMLS,C2749020,NA +GARD:0022686,DiseaseOntology,112046,NA +GARD:0022686,GeneticAlliance,9527,NA +GARD:0022687,OMIM,300844,Exact +GARD:0022687,UMLS,C0796225,NA +GARD:0022687,DiseaseOntology,112019,NA +GARD:0022687,GeneticAlliance,8846,NA +GARD:0022688,OMIM,300848,Exact +GARD:0022688,GeneticAlliance,9505,NA +GARD:0022688,UMLS,C1839082,NA +GARD:0022688,DiseaseOntology,112031,NA +GARD:0022689,OMIM,300849,Exact +GARD:0022689,DiseaseOntology,112058,NA +GARD:0022689,GeneticAlliance,9500,NA +GARD:0022689,UMLS,C3887939,NA +GARD:0022690,OMIM,300850,Exact +GARD:0022690,GeneticAlliance,9507,NA +GARD:0022690,UMLS,C3275443,NA +GARD:0022690,DiseaseOntology,112041,NA +GARD:0022691,OMIM,300851,Exact +GARD:0022691,GeneticAlliance,9509,NA +GARD:0022691,DiseaseOntology,112032,NA +GARD:0022691,UMLS,C1845144,NA +GARD:0022692,OMIM,300852,Exact +GARD:0022692,GeneticAlliance,9504,NA +GARD:0022692,DiseaseOntology,112053,NA +GARD:0022692,UMLS,C3275444,NA +GARD:0022693,OMIM,300919,Exact +GARD:0022693,UMLS,C3806746,NA +GARD:0022693,DiseaseOntology,112026,NA +GARD:0022694,OMIM,300928,Exact +GARD:0022694,DiseaseOntology,112048,NA +GARD:0022694,UMLS,C3890168,NA +GARD:0022695,OMIM,300978,Exact +GARD:0022695,DiseaseOntology,112042,NA +GARD:0022695,UMLS,C4283894,NA +GARD:0022696,OMIM,300983,Exact +GARD:0022696,DiseaseOntology,112018,NA +GARD:0022696,UMLS,C4310817,NA +GARD:0022697,OMIM,300984,Exact +GARD:0022697,UMLS,C4310816,NA +GARD:0022697,DiseaseOntology,112036,NA +GARD:0022698,OMIM,301013,Exact +GARD:0022698,DiseaseOntology,112054,NA +GARD:0022698,UMLS,C4692652,NA +GARD:0022699,OMIM,309530,Exact +GARD:0022699,GeneticAlliance,4665,NA +GARD:0022699,UMLS,C2931498,NA +GARD:0022699,UMLS,C1845181,NA +GARD:0022699,DiseaseOntology,112038,NA +GARD:0022700,OMIM,309549,Exact +GARD:0022700,UMLS,C0796215,NA +GARD:0022700,GeneticAlliance,9506,NA +GARD:0022700,DiseaseOntology,112034,NA diff --git a/gard/src/README.md b/RDAS.GARD/src/README.md similarity index 100% rename from gard/src/README.md rename to RDAS.GARD/src/README.md diff --git a/RDAS.GARD/src/metamap_gard.txt b/RDAS.GARD/src/metamap_gard.txt new file mode 100644 index 0000000..a4de4e0 --- /dev/null +++ b/RDAS.GARD/src/metamap_gard.txt @@ -0,0 +1,4813 @@ +0000037|Partial deletion of the short arm of chromosome 3 +0000045|Congenital varicella syndrome +0000083|Autosomal dominant Kenny Caffey syndrome +0000225|Radial hemimelia +0000272|VACTERL with hydrocephalus +0000302|Kostmann syndrome +0000319|Sacrococcygeal teratoma +0000324|Hypogonadotropic hypogonadism frontoparietal alopecia syndrome +0000325|Twin to twin transfusion syndrome +0000373|Quinquaud folliculitis decalvans +0000377|Congenital absence hypoplasia of fingers excluding thumb unilateral +0000428|Craniofrontonasal dysplasia Poland anomaly syndrome +0000429|Constriction rings syndrome +0000453|Acanthosis nigricans insulin resistance muscle cramps acral enlargement syndrome +0000476|Acquired ichthyosis +0000519|Idiopathic acute eosinophilic pneumonia +0000536|Acute myeloid leukemia with abnormal bone marrow eosinophils inv 16 p13q22 or t 16 16 p13 q22 +0000587|Osteogenesis imperfecta retinopathy seizures intellectual disability syndrome +0000670|Aneurysm of sinus of Valsalva +0000689|Aniridia ptosis intellectual disability familial obesity syndrome +0000697|Ankyloblepharon filiforme adnatum imperforate anus syndrome +0000717|Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome +0000730|Anti HLA hyperimmunization +0000731|Congenital alpha2 antiplasmin deficiency +0000741|Aortic arch defects +0000764|Arachnodactyly intellectual disability dysmorphism syndrome +0000842|Ankylosing vertebral hyperostosis with tylosis +0000853|Cloverleaf skull asphyxiating thoracic dysplasia syndrome +0000860|Cryptorchidism arachnodactyly intellectual disability syndrome +0000966|Brachydactyly elbow wrist dysplasia syndrome +0000984|Brachydactyly type A7 +0000998|Craniosynostosis Dandy Walker malformation hydrocephalus syndrome +0001058|X linked calvarial hyperostosis +0001094|Cardiac diverticulum +0001096|FLNA related X linked myxomatous valvular dysplasia +0001118|3MC syndrome +0001133|X linked intellectual disability Stocco Dos Santos type +0001160|Cataract glaucoma syndrome +0001196|Cerebellar hypoplasia tapetoretinal degeneration syndrome +0001222|CLN4B disease +0001261|Charlie M syndrome +0001392|Cleft palate short stature vertebral anomalies syndrome +0001394|X linked cleft palate and ankyloglossia +0001421|Cogan syndrome +0001428|Dislocation of the hip dysmorphism syndrome +0001436|Coloboma of macula +0001438|Coloboma of optic disc +0001474|Autosomal dominant congenital benign spinal muscular atrophy +0001475|Congenital respiratory biliary fistula +0001489|Congenital ichthyosis microcephalus tetraplegia syndrome +0001495|Congenital mitral malformation +0001513|Continuous spikes and waves during sleep +0001684|Deafness ear malformation facial palsy syndrome +0001722|Erythrokeratoderma en cocardes +0001861|Diffuse neonatal hemangiomatosis +0001872|Diphallia +0001874|Hemolytic anemia due to diphosphoglycerate mutase deficiency +0001876|Diprosopus +0001883|Dissecting cellulitis of the scalp +0001887|Vocal cord and pharyngeal distal myopathy +0001898|Early onset zonular cataract +0002009|Dysmorphism cleft palate loose skin syndrome +0002015|Peripheral dysostosis +0002022|Dysplastic cortical hyperostosis +0002026|Dyssegmental dysplasia Silverman Handmaker type +0002028|Primary dystonia DYT2 type +0002031|Qualitative or quantitative defects of dystrophin +0002083|Kyphoscoliotic Ehlers Danlos syndrome +0002130|Congenital enterovirus infection +0002166|Celiac disease epilepsy cerebral calcification syndrome +0002173|Familial partial epilepsy +0002178|Epiphyseal dysplasia hearing loss dysmorphism syndrome +0002195|Thickened earlobes conductive deafness syndrome +0002249|Familial thoracic aortic aneurysm and aortic dissection +0002252|Non acquired combined pituitary hormone deficiency +0002254|Familial nasal acilia +0002287|Ataxia photosensitivity short stature syndrome +0002303|Indomethacin embryofetopathy +0002305|Congenital left ventricular aneurysm +0002320|Congenital fibrinogen deficiency +0002324|Gingival fibromatosis hypertrichosis syndrome +0002378|FRAXE intellectual disability +0002380|Osteochondrosis of the metatarsal bone +0002381|Odontotrichomelic syndrome +0002384|14q22q23 microdeletion syndrome +0002409|Fryns Smeets Thiry syndrome +0002432|X linked Alport syndrome diffuse leiomyomatosis +0002437|Gastroenteropancreatic neuroendocrine neoplasm +0002486|Pediatric onset glaucoma of genetic origin +0002498|Familial glucocorticoid deficiency +0002601|Harrod syndrome +0002722|Holoprosencephaly caudal dysgenesis syndrome +0002749|Humero radio ulnar synostosis +0002756|Trigonocephaly broad thumbs syndrome +0002775|Hydrocephalus obesity hypogonadism syndrome +0002816|Combined immunodeficiency due to DOCK8 deficiency +0002818|Hyperinsulinism due to glucokinase deficiency +0002837|Familial primary hyperparathyroidism +0002856|Maternal hyperthermia induced birth defects +0002858|Familial hyperthyroidism due to mutations in TSH receptor +0002864|Acquired hypertrichosis lanuginosa +0002877|Autosomal dominant hypocalcemia +0002906|Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement +0002928|Hypospadias intellectual disability Goldblatt type syndrome +0002945|ICF syndrome +0002989|Imperforate oropharynx costovertebral anomalies syndrome +0002995|Early onset progressive encephalopathy with migrant continuous myoclonus +0003002|Infantile spasms broad thumbs syndrome +0003012|Internal carotid absence +0003086|PAGOD syndrome +0003103|Punctate palmoplantar keratoderma type 1 +0003159|Glycogen storage disease due to lactate dehydrogenase deficiency +0003163|Fatal infantile lactic acidosis with methylmalonic aciduria +0003188|Laryngotracheoesophageal cleft +0003195|Graham Little Piccardi Lassueur syndrome +0003231|Ravine syndrome +0003232|Leukoencephalopathy palmoplantar keratoderma syndrome +0003242|Autosomal dominant popliteal pterygium syndrome +0003251|Limb body wall complex +0003252|Distal limb deficiencies micrognathia syndrome +0003259|Linear verrucous nevus syndrome +0003263|Pyruvate dehydrogenase E3 deficiency +0003374|Mandibuloacral dysplasia with type A lipodystrophy +0003378|Lung agenesis heart defect thumb anomalies syndrome +0003399|Lethal recessive chondrodysplasia +0003409|Hennekam Beemer syndrome +0003438|Dysraphism cleft lip palate limb reduction defects syndrome +0003440|Median nodule of the upper lip +0003482|Severe microbrachycephaly intellectual disability athetoid cerebral palsy syndrome +0003505|Severe intellectual disability progressive spastic diplegia syndrome +0003514|Intellectual disability short stature hypertelorism syndrome +0003520|X linked skeletal dysplasia intellectual disability syndrome +0003568|Metaphyseal dysplasia maxillary hypoplasia brachydacty syndrome +0003573|Methimazole embryofetopathy +0003596|Microbrachycephaly ptosis cleft lip syndrome +0003607|Microcephaly brain defect spasticity hypernatremia syndrome +0003617|Mikati Najjar Sahli syndrome +0003672|Non spherocytic hemolytic anemia due to hexokinase deficiency +0003681|Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria +0003705|Sulfite oxidase deficiency due to molybdenum cofactor deficiency +0003738|1q41q42 microdeletion syndrome +0003750|Distal monosomy 3p +0003764|6q25 microdeletion syndrome +0003765|Familial monosomy 7 syndrome +0003769|8p23 1 microdeletion syndrome +0003863|Classic mycosis fungoides +0003872|Progressive myoclonic epilepsy type 6 +0003921|Isolated growth hormone deficiency type III +0003931|Rheumatoid factor negative polyarticular juvenile idiopathic arthritis +0003982|Neutropenia monocytopenia deafness syndrome +0003994|Night blindness skeletal anomalies dysmorphism syndrome +0004011|Familial LCAT deficiency +0004014|Port wine nevi mega cisterna magna hydrocephalus syndrome +0004018|Primary tethered cord syndrome +0004051|Odonto onycho dysplasia alopecia syndrome +0004064|Okamoto syndrome +0004066|Oligomeganephronia +0004070|Olivopontocerebellar atrophy deafness syndrome +0004081|Omphalomesenteric cyst +0004116|Oromandibular limb hypogenesis syndrome +0004119|X linked intellectual disability Shashi type +0004130|Otospondylomegaepiphyseal dysplasia +0004131|Thiemann disease familial form +0004183|Overhydrated hereditary stomatocytosis +0004227|Idiopathic ventricular fibrillation non Brugada type +0004235|Partington syndrome +0004266|Pelizaeus Merzbacher like disease due to AIMP1 mutation +0004299|Autosomal recessive distal osteolysis syndrome +0004315|Phenobarbital embryopathy +0004331|PGM3 CDG +0004346|Autosomal dominant cerebellar ataxia +0004358|Severe combined immunodeficiency due to FOXN1 deficiency +0004424|Polyneuropathy intellectual disability acromicria premature menopause syndrome +0004446|Congenital erythropoietic porphyria +0004484|Primary ciliary dyskinesia +0004503|Progressive external ophthalmoplegia +0004509|Proliferating trichilemmal cyst +0004528|Corpus callosum agenesis abnormal genitalia syndrome +0004531|Proximal spinal muscular atrophy +0004569|Familial pterygium of the conjunctiva +0004573|X linked lethal multiple pterygium syndrome +0004586|Abnormal origin of right or left pulmonary artery from the aorta +0004589|Peripheral pulmonary stenosis +0004593|Congenital pulmonary sequestration +0004594|Supravalvular pulmonary stenosis +0004597|Pulmonary valve agenesis +0004603|Punctate acrokeratoderma freckle like pigmentation +0004644|Ataxia deafness intellectual disability syndrome +0004655|Renal caliceal diverticuli deafness syndrome +0004680|X linked retinal dysplasia +0004723|Rigid spine syndrome +0004733|Roch Leri mesosomatous lipomatosis +0004822|Short chain acyl CoA dehydrogenase deficiency +0004841|Short stature deafness neutrophil dysfunction dysmorphism syndrome +0004940|Spina bifida hypospadias syndrome +0004997|Familial spontaneous pneumothorax +0005026|Stimmler syndrome +0005034|Alpha delta granule deficiency +0005036|Brachydactyly mesomelia intellectual disability heart defects syndrome +0005058|Sugarman brachydactyly +0005070|Symmetrical thalamic calcifications +0005091|Syngnathia cleft palate syndrome +0005092|Dobrow syndrome +0005120|Microcephalic osteodysplastic primordial dwarfism types I and III +0005148|Tetra amelia +0005176|X linked thrombocytopenia with normal platelets +0005181|Thoraco abdominal enteric duplication +0005186|KRT1 related diffuse nonepidermolytic keratoderma +0005231|Skin fragility woolly hair palmoplantar keratoderma syndrome +0005286|Triopia +0005304|Mosaic trisomy 12 +0005331|Mosaic trisomy 2 +0005342|Mosaic trisomy 3 +0005388|Transient tyrosinemia of the newborn +0005395|Ulerythema ophryogenesis +0005430|Mullerian derivatives lymphangiectasia polydactyly syndrome +0005476|Congenitally uncorrected transposition of the great arteries +0005485|Acanthokeratolytic verrucous nevus +0005500|Vitamin B12 responsive methylmalonic acidemia type cblA +0005545|Weaver Williams syndrome +0005584|Curry Jones syndrome +0005661|D 2 hydroxyglutaric aciduria +0005727|Congenital isolated ACTH deficiency +0005728|Actinomycosis +0005770|Pseudohypoparathyroidism with Albright hereditary osteodystrophy +0005808|Isolated anencephaly exencephaly +0005819|Testicular agenesis +0005824|Antiphospholipid syndrome +0005867|Localized lipodystrophy +0005897|CLN3 disease +0005975|Scleredema +0005994|Carcinoid syndrome +0006005|Unicentric Castleman disease +0006093|Trisomy 5p +0006148|Hereditary thrombophilia due to congenital antithrombin deficiency +0006205|Cramp fasciculation syndrome +0006206|Crouzon syndrome +0006217|Simple cryoglobulinemia +0006308|Autosomal recessive generalized dystrophic epidermolysis bullosa severe form +0006333|Isolated encephalocele +0006337|Infective endocarditis +0006405|Acquired hemophilia A +0006414|Familial chylomicronemia syndrome +0006447|Severe primary trimethylaminuria +0006479|GM1 gangliosidosis type 1 +0006500|Giant axonal neuropathy +0006520|Class I glucose 6 phosphate dehydrogenase deficiency +0006588|Shiga toxin associated hemolytic uremic syndrome +0006608|Adult hepatocellular carcinoma +0006657|Chronic hiccup +0006704|Familial apolipoprotein A5 deficiency +0006725|Hypocomplementemic urticarial vasculitis +0006757|Idiopathic pulmonary artery dilatation +0006779|Infantile apnea +0006802|Joubert syndrome +0006807|Infantile systemic hyalinosis +0006842|Osteochondrosis of the tarsal bone +0006845|CLN4A disease +0006878|Erythroderma desquamativum +0006960|Malakoplakia +0006975|Marfan syndrome type 1 +0007002|MUC1 related autosomal dominant tubulointerstitial kidney disease +0007111|Autosomal recessive multiple pterygium syndrome +0007148|Hyaline body myopathy +0007180|Benign peripheral nerve sheath tumor +0007299|Pachydermoperiostosis +0007312|PANDAS +0007377|Peters anomaly +0007385|Sporadic pheochromocytoma secreting paraganglioma +0007392|Behavioral variant of frontotemporal dementia +0007399|Isolated growth hormone deficiency type IA +0007415|Cutaneous polyarteritis nodosa +0007503|Punctate inner choroidopathy +0007552|Primary renal tubular acidosis +0007588|Rosai Dorfman disease +0007608|X linked scapuloperoneal muscular dystrophy +0007712|Superior mesenteric artery syndrome +0007828|Tuberculous meningitis +0007837|Disorder of urea cycle metabolism and ammonia detoxification +0007906|X linked lymphoproliferative disease due to SH2D1A deficiency +0008282|Hereditary amyloidosis with primary renal involvement +0008295|Isolated complex III deficiency +0008317|Dendritic cell tumor +0008334|Amish nemaline myopathy +0008417|Renal cell carcinoma 4 +0008476|Leber plus disease +0008479|Familial multiple discoid fibromas +0008486|Musculocontractural Ehlers Danlos syndrome +0008488|Familial papillary or follicular thyroid carcinoma +0008530|Male infertility with azoospermia or oligozoospermia due to single gene mutation +0008586|Cardiocranial syndrome Pfeiffer type +0008591|X linked visceral heterotaxy 1 +0008659|Fibular hemimelia +0008694|Osteogenesis imperfecta type 1 +0008698|Gnathodiaphyseal dysplasia +0009118|Primary Fanconi renotubular syndrome +0009126|Agnathia holoprosencephaly situs inversus syndrome +0009152|Congenital adrenal hyperplasia due to 3 beta hydroxysteroid dehydrogenase deficiency +0009181|Familial abdominal aortic aneurysm +0009203|Charcot Marie Tooth disease type 4E +0009206|Autosomal dominant intermediate Charcot Marie Tooth disease type F +0009208|Hereditary motor and sensory neuropathy type 5 +0009212|Phocomelia Schinzel type +0009292|Microphthalmia brain atrophy syndrome +0009325|Extragonadal germ cell tumor +0009331|Pediatric hepatocellular carcinoma +0009349|Vulvar carcinoma +0009376|Upper tract urothelial carcinoma +0009404|Phyllodes tumor of the prostate +0009412|X linked cerebral adrenoleukodystrophy +0009418|Cochleosaccular degeneration cataract syndrome +0009433|Organic aciduria +0009448|Camptodactyly of fingers +0009450|Familial juvenile hypertrophy of the breast +0009456|X linked sideroblastic anemia +0009479|Vitamin B12 responsive methylmalonic acidemia type cblB +0009484|Superficial siderosis +0009494|Hereditary inclusion body myopathy joint contractures ophthalmoplegia syndrome +0009496|Hereditary renal hypouricemia +0009509|Renpenning syndrome +0009528|Cyclosporosis +0009534|Chronic Epstein Barr virus infection syndrome +0009550|Variant Creutzfeldt Jakob disease +0009558|Autosomal dominant severe congenital neutropenia +0009560|Bacterial toxic shock syndrome +0009571|Hereditary clear cell renal cell carcinoma +0009583|Autosomal dominant spastic paraplegia type 9A +0009740|Familial atrial fibrillation +0009751|Diffuse cutaneous systemic sclerosis +0009802|Progressive familial intrahepatic cholestasis type 1 +0009803|Progressive familial intrahepatic cholestasis type 4 +0009804|Intrahepatic cholestasis of pregnancy +0009806|Vibratory urticaria +0009817|Autosomal dominant dopa responsive dystonia +0009818|Developmental malformations deafness dystonia syndrome +0009820|Catastrophic antiphospholipid syndrome +0009848|Congenital brain dysgenesis due to glutamine synthetase deficiency +0009890|Autosomal dominant optic atrophy classic form +0009907|Amyopathic dermatomyositis +0009931|Hyperinsulinism hyperammonemia syndrome +0010011|Agammaglobulinemia microcephaly craniosynostosis severe dermatitis syndrome +0010025|Anterior segment developmental anomaly +0010034|Congenital trigeminal anesthesia +0010054|Eye defects arachnodactyly cardiopathy syndrome +0010066|Overgrowth metaphyseal undermodeling spondylar dysplasia syndrome +0010127|Leydig cell hypoplasia due to LHB deficiency +0010129|Isolated thyroid stimulating hormone deficiency +0010148|Branchiootic syndrome +0010168|Joubert syndrome with ocular defect +0010169|Joubert syndrome with renal defect +0010177|Mirizzi syndrome +0010184|Hereditary cryohydrocytosis with normal stomatin +0010213|Blepharophimosis ptosis epicanthus inversus syndrome type 2 +0010216|NDE1 related microhydranencephaly +0010239|H syndrome +0010244|Familial lipase maturation factor 1 deficiency +0010248|Rare disease with autism +0010252|Primary Sjogren syndrome +0010277|Adducted thumbs arthrogryposis syndrome Christian type +0010301|Autosomal recessive bestrophinopathy +0010303|Autism facial port wine stain syndrome +0010304|8p23 1 duplication syndrome +0010313|MYH7 related late onset scapuloperoneal muscular dystrophy +0010324|Mild phenylketonuria +0010354|Omphalocele diaphragmatic hernia cardiovascular anomalies radial ray defect syndrome +0010358|Intellectual disability Birk Barel type +0010407|Rapid onset childhood obesity hypothalamic dysfunction hypoventilation autonomic dysregulation syndrome +0010411|Small cell carcinoma of the ovary +0010413|Autosomal dominant polycystic kidney disease +0010417|Symptomatic form of hemochromatosis type 1 +0010443|Pediatric multiple sclerosis +0010460|GCGR related hyperglucagonemia +0010467|Multifocal lymphangioendotheliomatosis thrombocytopenia syndrome +0010477|Spinocerebellar ataxia type 15 16 +0010508|Bartter syndrome type 4 +0010523|Combined immunodeficiency due to STIM1 deficiency +0010524|Combined immunodeficiency due to ORAI1 deficiency +0010536|Primary dystonia DYT17 type +0010538|Autosomal recessive spastic paraplegia type 35 +0010556|CD4 CD56 hematodermic neoplasm +0010559|Primary interstitial lung disease specific to childhood +0010573|Camptodactyly syndrome Guadalajara type 3 +0010593|Acute infantile liver failure due to synthesis defect of mtDNA encoded proteins +0010597|Complete androgen insensitivity syndrome +0010601|Pituitary hormone deficiency combined 1 +0010602|Combined pituitary hormone deficiencies genetic forms +0010603|Non acquired combined pituitary hormone deficiency sensorineural hearing loss spine abnormalities syndrome +0010604|Short stature pituitary and cerebellar defects small sella turcica syndrome +0010617|Congenital cystic eye +0010624|Spondyloepiphyseal dysplasia tarda +0010630|Congenital tufting enteropathy +0010638|Gangliocytoma +0010644|Pineal parenchymal tumor of intermediate differenciation +0010649|Cone dystrophy with supernormal rod response +0010664|Baroreflex failure +0010667|Autosomal dominant focal dystonia DYT25 type +0010670|Glycoproteinosis +0010679|UMOD related autosomal dominant tubulointerstitial kidney disease +0010711|Genetic peripheral neuropathy +0010732|Leukoencephalopathy with calcifications and cysts +0010734|Pleuropulmonary blastoma familial tumor susceptibility syndrome +0010738|Primary hyperoxaluria type 3 +0010740|Proximal 16p11 2 microdeletion syndrome +0010741|Spondyloepimetaphyseal dysplasia Handigodu type +0010744|Conjunctival malignant melanoma +0010754|Rubinstein Taybi syndrome due to 16p13 3 microdeletion +0010755|16p13 3 microduplication syndrome +0010760|Glycogen storage disease due to muscle and heart glycogen synthase deficiency +0010762|Hereditary arterial and articular multiple calcification syndrome +0010768|Familial or sporadic hemiplegic migraine +0010769|Laing early onset distal myopathy +0010775|Syndromic multisystem autoimmune disease due to Itch deficiency +0010778|Recurrent infection due to specific granule deficiency +0010780|Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia +0010783|Bilateral frontal polymicrogyria +0010785|Bilateral parasagittal parieto occipital polymicrogyria +0010786|Bilateral generalized polymicrogyria +0010790|Cone rod dystrophy +0010791|Logopenic progressive aphasia +0010795|Hemicrania continua +0010801|Autosomal dominant tubulointerstitial kidney disease +0010803|Lamellar ichthyosis +0010805|MUTYH related attenuated familial adenomatous polyposis +0010809|Postorgasmic illness syndrome +0010822|Idiopathic spontaneous coronary artery dissection +0010824|Cushing syndrome due to macronodular adrenal hyperplasia +0010837|Ring chromosome 2 syndrome +0010839|Ring chromosome 3 syndrome +0010841|Ring chromosome 5 syndrome +0010855|Ring chromosome 16 syndrome +0010871|Intermediate severe Salla disease +0010879|Familial hyperphosphatemic tumoral calcinosis Hyperphosphatemic hyperostosis syndrome +0010887|Osteofibrous dysplasia +0010892|Blepharophimosis intellectual disability syndrome +0010898|Primary acquired pure red cell aplasia +0010906|Primary pigmented nodular adrenocortical disease +0010907|X linked immunodeficiency with magnesium defect Epstein Barr virus infection and neoplasia +0010910|Medial condensing osteitis of the clavicle +0010913|Griscelli syndrome +0010914|Familial avascular necrosis of femoral head +0010916|X linked lymphoproliferative disease due to XIAP deficiency +0010917|Hypomyelination with atrophy of basal ganglia and cerebellum +0010919|Pontine tegmental cap dysplasia +0010922|49 XXXYY syndrome +0010923|Erythrokeratoderma variabilis progressiva +0010929|Nodular regenerative hyperplasia of the liver +0010934|Monocytopenia with susceptibility to infections +0010935|16q24 3 microdeletion syndrome +0010936|17q23 1q23 2 microdeletion syndrome +0010938|Microcornea posterior megalolenticonus persistent fetal vasculature coloboma syndrome +0010939|CLOVES syndrome +0010942|Glaucoma secondary to spherophakia ectopia lentis and megalocornea +0010943|1q44 microdeletion syndrome +0010944|COG6 CGD +0010945|Short stature optic atrophy Pelger Huet anomaly syndrome +0010946|Corticosteroid sensitive aseptic abscess syndrome +0010948|Erythropoietic uroporphyria associated with myeloid malignancy +0010965|FGFR2 related bent bone dysplasia +0010972|Distal monosomy 17q +0010977|Non syndromic pontocerebellar hypoplasia +0010984|Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency +0010989|Mandibular hypoplasia deafness progeroid features lipodystrophy syndrome +0010991|19p13 12 microdeletion syndrome +0010992|Autosomal recessive spastic ataxia optic atrophy dysarthria syndrome +0010995|Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +0010996|Distal 17p13 1 microdeletion syndrome +0010997|Aneurysm osteoarthritis syndrome +0010998|2q23 1 microdeletion syndrome +0010999|Severe intellectual disability and progressive spastic paraplegia +0011003|Karyomegalic interstitial nephritis +0011005|Febrile infection related epilepsy syndrome +0011006|Painful orbital and systemic neurofibromas marfanoid habitus syndrome +0011007|Onychocytic matricoma +0011008|Nestor Guillermo progeria syndrome +0011009|Chondrodysplasia with joint dislocations gPAPP type +0011010|Hereditary sensorimotor neuropathy with hyperelastic skin +0011895|Pellucid marginal degeneration +0011901|Juvenile amyotrophic lateral sclerosis +0011903|Immunodeficiency due to selective anti polysaccharide antibody deficiency +0011906|Cylindrical spirals myopathy +0011910|Atypical Werner syndrome +0011923|Small cell carcinoma of the bladder +0011927|Hereditary sensory neuropathy deafness dementia syndrome +0011979|Autoimmune encephalitis +0011984|Hereditary pheochromocytoma paraganglioma +0011985|48 XYYY syndrome +0011992|Adult onset immunodeficiency with anti interferon gamma autoantibodies +0012011|Autosomal dominant intermediate Charcot Marie Tooth disease type E +0012016|Primary melanoma of the central nervous system +0012036|Facial onset sensory and motor neuronopathy +0012059|GM3 synthase deficiency +0012062|Visual snow syndrome +0012074|Oculo auriculo vertebral spectrum +0012085|Isolated microphthalmia anophthalmia coloboma +0012107|Autosomal dominant non syndromic intellectual disability +0012128|Methylmalonic acidemia with homocystinuria type cblC +0012166|5q14 3 microdeletion syndrome +0012173|CDKL5 deficiency disorder +0012199|Early onset myopathy areflexia respiratory distress dysphagia syndrome +0012244|New onset refractory status epilepticus +0012281|Chronic atrial and intestinal dysrhythmia syndrome +0012299|Bradyopsia +0012300|Pelizaeus Merzbacher like disease +0012308|Celiac artery compression syndrome +0012314|Autoimmune enteropathy and endocrinopathy susceptibility to chronic infections syndrome +0012315|Alacrimia choreoathetosis liver dysfunction syndrome +0012316|Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency +0012335|Carcinosarcoma of the corpus uteri +0012348|COG5 CDG +0012353|Autosomal recessive axonal neuropathy with neuromyotonia +0012357|STING associated vasculopathy with onset in infancy +0012362|Familial hyperaldosteronism type III +0012366|Spinocerebellar ataxia type 35 +0012367|Spinocerebellar ataxia type 36 +0012368|Spinocerebellar ataxia type 37 +0012369|Spinocerebellar ataxia type 38 +0012371|Spinocerebellar ataxia type 40 +0012372|Autosomal dominant cerebellar ataxia deafness narcolepsy syndrome +0012375|Idiopathic CD4 lymphocytopenia +0012383|Vasculitis due to ADA2 deficiency +0012384|Hypopigmentation punctate palmoplantar keratoderma syndrome +0012388|Proximal 16p11 2 microduplication syndrome +0012396|ALG11 CDG +0012398|DDOST CDG +0012401|ALG13 CDG +0012403|SLC35A2 CDG +0012405|SSR4 CDG +0012412|COG4 CDG +0012413|TMEM165 CDG +0012416|Congenital muscular dystrophy with intellectual disability and severe epilepsy +0012417|MAN1B1 CDG +0012421|Partial duplication of the short arm of chromosome X +0012428|Cutaneous collagenous vasculopathy +0012434|Autosomal dominant Charcot Marie Tooth disease type 2O +0012435|Charcot Marie Tooth disease type 2P +0012436|Autosomal dominant intermediate Charcot Marie Tooth disease +0012440|Charcot Marie Tooth disease type 4 +0012441|Charcot Marie Tooth disease type 4F +0012444|X linked Charcot Marie Tooth disease +0012445|X linked Charcot Marie Tooth disease type 6 +0012446|Autosomal dominant Charcot Marie Tooth disease type 2Q +0012447|Autosomal dominant Charcot Marie Tooth disease type 2 with giant axons +0012449|Autosomal recessive axonal hereditary motor and sensory neuropathy +0012451|Charcot Marie Tooth disease type 2R +0012452|Autosomal recessive intermediate Charcot Marie Tooth disease +0012454|Autosomal recessive intermediate Charcot Marie Tooth disease type B +0012459|Sickle cell disease associated with another hemoglobin anomaly +0012470|Peroxisomal beta oxidation disorder +0012471|Leukoencephalopathy dystonia motor neuropathy syndrome +0012476|Disorder of peroxisomal alpha beta and omega oxidation +0012480|Tetrasomy 21 +0012483|Cor triatriatum dexter +0012484|Cor triatriatum sinister +0012487|Intellectual disability hypoplastic corpus callosum preauricular tag syndrome +0012492|20p12 3 microdeletion syndrome +0012501|Intellectual disability severe speech delay mild dysmorphism syndrome +0012502|Male infertility due to globozoospermia +0012505|Encephalopathy due to prosaposin deficiency +0012511|Lipid storage disease +0012513|Male infertility with spermatogenesis disorder due to single gene mutation +0012524|L1 syndrome +0012525|X linked complicated spastic paraplegia type 1 +0012532|Autosomal dominant limb girdle muscular dystrophy type 1H +0012539|POMT2 related limb girdle muscular dystrophy R14 +0012540|POMGNT1 related limb girdle muscular dystrophy R15 +0012541|Alpha dystroglycan related limb girdle muscular dystrophy R16 +0012542|Plectin related limb girdle muscular dystrophy R17 +0012543|TRAPPC11 related limb girdle muscular dystrophy R18 +0012544|GMPPB related limb girdle muscular dystrophy R19 +0012547|Selective IgM deficiency +0012550|Isolated congenital adermatoglyphia +0012551|Familial congenital mirror movements +0012561|Scheie syndrome +0012567|PLA2G6 associated neurodegeneration +0012569|Mitochondrial membrane protein associated neurodegeneration +0012570|Beta propeller protein associated neurodegeneration +0012571|COASY protein associated neurodegeneration +0012584|Congenital muscular dystrophy due to dystroglycanopathy +0012588|Congenital muscular alpha dystroglycanopathy with brain and eye anomalies +0012596|Primary lipodystrophy +0012597|Genetic lipodystrophy +0012599|AKT2 related familial partial lipodystrophy +0012601|PLIN1 related familial partial lipodystrophy +0012621|Methylmalonic acidemia with homocystinuria type cblJ +0012623|Vitamin B12 responsive methylmalonic acidemia +0012632|Multiple mitochondrial dysfunctions syndrome +0012640|Frontonasal dysplasia severe microphthalmia severe facial clefting syndrome +0012641|Frontonasal dysplasia alopecia genital anomalies syndrome +0012642|Frontorhiny +0012643|Lethal congenital contracture syndrome +0012648|Isolated congenital megalocornea +0012650|Amoebiasis due to free living amoebae +0012653|DOCK2 deficiency +0012662|Cerebrofacial arteriovenous metameric syndrome +0012663|Facial arteriovenous malformation +0012664|Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +0012676|Annular atrophic lichen planus +0012678|Lipoic acid synthetase deficiency +0012679|Lipoic acid biosynthesis defect +0012680|Lipoyl transferase 1 deficiency +0012681|Childhood onset spasticity with hyperglycinemia +0012684|Familial episodic pain syndrome +0012697|Tumor of cranial and spinal nerves +0012706|Painful legs and moving toes syndrome +0012715|X linked intellectual disability hypotonia movement disorder syndrome +0012731|X linked hereditary sensory and autonomic neuropathy with deafness +0012732|Hereditary sensory and autonomic neuropathy type 7 +0012740|Non amyloid fibrillary glomerulopathy +0012741|Immunotactoid or fibrillary glomerulopathy +0012742|Juvenile polymyositis +0012759|Acute myeloid leukemia with inv 3 q21q26 2 or t 3 3 q21 q26 2 +0012760|Unclassified acute myeloid leukemia +0012774|Salivary gland type cancer of the breast +0012777|Multiple congenital anomalies hypotonia seizures syndrome type 2 +0012779|Familial retinal arterial macroaneurysm +0012781|Multiple congenital anomalies hypotonia seizures syndrome +0012782|Congenital disorder of glycosylation with developmental anomaly +0012784|Livedoid vasculopathy +0012794|Autosomal recessive generalized dystrophic epidermolysis bullosa intermediate form +0012806|Autosomal dominant spondylocostal dysostosis +0012811|Multisystemic smooth muscle dysfunction syndrome +0012814|8q24 3 microdeletion syndrome +0012815|Severe intellectual disability poor language strabismus grimacing face long fingers syndrome +0012816|8q12 microduplication syndrome +0012821|Severe congenital nemaline myopathy +0012822|Typical nemaline myopathy +0012823|Intermediate nemaline myopathy +0012825|FOXG1 syndrome +0012827|Hypotrichosis lymphedema telangiectasia renal defect syndrome +0012829|Pulmonary non tuberculous mycobacterial infection +0012843|Disseminated peritoneal leiomyomatosis +0012844|High myopia sensorineural deafness syndrome +0012845|Cognitive impairment coarse facies heart defects obesity pulmonary involvement short stature skeletal dysplasia syndrome +0012860|Spinocerebellar ataxia with axonal neuropathy type 2 +0012861|RFVT3 related riboflavin transporter deficiency +0012862|Generalized peeling skin syndrome +0012864|Hyperlipidemia due to hepatic triacylglycerol lipase deficiency +0012889|Isolated childhood apraxia of speech +0012892|Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency +0012893|Leukoencephalopathy thalamus and brainstem anomalies high lactate syndrome +0012894|Zika virus disease +0012903|Optic atrophy intellectual disability syndrome +0012913|Polyhydramnios megalencephaly symptomatic epilepsy syndrome +0012915|X linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency +0012919|Malignant migrating focal seizures of infancy +0012921|Late onset junctional epidermolysis bullosa +0012922|Intermediate generalized junctional epidermolysis bullosa +0012923|Localized junctional epidermolysis bullosa +0012927|Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma +0012931|ADNP syndrome +0012959|Primary orthostatic hypotension +0012963|MEGDEL syndrome +0012976|Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency +0012978|Proximal myopathy with extrapyramidal signs +0012980|Monoclonal mast cell activation syndrome +0012987|Hereditary sensory and autonomic neuropathy type 6 +0012991|Aquagenic palmoplantar keratoderma +0013007|Hemoglobin M disease +0013015|Obesity due to congenital leptin deficiency +0013016|Immune dysregulation inflammatory bowel disease arthritis recurrent infections syndrome +0013020|Microcystic lymphatic malformation +0013030|Deafness lymphedema leukemia syndrome +0013032|Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation +0013040|Necrobiosis lipoidica +0013043|Intellectual disability craniofacial dysmorphism cryptorchidism syndrome +0013056|Congenital analbuminemia +0013059|Distal arthrogryposis type 5D +0013060|KCNQ2 related epileptic encephalopathy +0013063|Bockenheimer syndrome +0013075|Diffuse intrinsic pontine glioma +0013108|MIRAGE syndrome +0013111|Ataxia oculomotor apraxia type 4 +0013114|Acute infantile liver failure multisystemic involvement syndrome +0013125|CIDEC related familial partial lipodystrophy +0013126|LIPE related familial partial lipodystrophy +0013137|Methylmalonic acidemia with homocystinuria type cblX +0013142|Acute flaccid myelitis +0013155|Early onset lamellar cataract +0013163|Methylmalonic acidemia without homocystinuria +0013167|Familial isolated trichomegaly +0013168|Corticobasal syndrome +0013171|Autosomal recessive brachyolmia +0013175|Renal medullary carcinoma +0013198|Infantile onset periodic fever panniculitis dermatosis syndrome +0013200|Mitochondrial DNA depletion syndrome encephalomyopathic form with renal tubulopathy +0013201|Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +0013209|Pituitary stalk interruption syndrome +0013218|Hereditary fibrosing poikiloderma tendon contractures myopathy pulmonary fibrosis syndrome +0013219|BAP1 related tumor predisposition syndrome +0013221|Severe intellectual disability progressive postnatal microcephaly midline stereotypic hand movements syndrome +0013222|BICD2 related autosomal dominant childhood onset proximal spinal muscular atrophy +0013232|Familial acute necrotizing encephalopathy +0013256|IgG4 related pachymeningitis +0013259|Bainbridge Ropers syndrome +0013264|Infantile cerebellar retinal degeneration +0013293|Bleeding diathesis due to glycoprotein VI deficiency +0013295|Familial focal epilepsy with variable foci +0013296|17q12 microduplication syndrome +0013297|17q12 microdeletion syndrome +0013298|Mitochondrial DNA depletion syndrome encephalomyopathic form with variable craniofacial anomalies +0013316|MAGEL2 related Prader Willi like syndrome +0013319|Fatty acyl CoA reductase 1 deficiency +0013320|Rhizomelic chondrodysplasia punctata type 5 +0013339|BENTA disease +0013349|Postaxial polydactyly anterior pituitary anomalies facial dysmorphism syndrome +0013371|MAGIC syndrome +0013390|12q14 microdeletion syndrome +0013409|AHDC1 related intellectual disability obstructive sleep apnea mild dysmorphism syndrome +0013418|Neurodevelopmental disorder craniofacial dysmorphism cardiac defect skeletal anomalies syndrome due to a point mutation +0013423|Recurrent metabolic encephalomyopathic crises rhabdomyolysis cardiac arrhythmia intellectual disability syndrome +0013425|Spastic tetraplegia thin corpus callosum progressive postnatal microcephaly syndrome +0013431|Temple syndrome +0013447|PENS syndrome +0013451|Kaposiform lymphangiomatosis +0013472|FTH1 related iron overload +0013474|Intellectual disability epilepsy extrapyramidal syndrome +0013488|MEPAN syndrome +0013489|Brain malformations musculoskeletal abnormalities facial dysmorphism intellectual disability syndrome +0013527|DYRK1A related intellectual disability syndrome +0013565|Combined immunodeficiency due to LRBA deficiency +0013568|Hereditary sensory and autonomic neuropathy due to TECPR2 mutation +0013571|Childhood encephalopathy due to thiamine pyrophosphokinase deficiency +0013591|Postural orthostatic tachycardia syndrome due to NET deficiency +0013593|Rosette forming glioneuronal tumor +0013594|Brain dopamine serotonin vesicular transport disease +0013621|CAD CDG +0013636|Macrocephaly intellectual disability neurodevelopmental disorder small thorax syndrome +0013638|X linked female restricted facial dysmorphism short stature choanal atresia intellectual disability +0013644|Mitochondrial DNA depletion syndrome hepatocerebral form due to DGUOK deficiency +0013655|Orofaciodigital syndrome type 14 +0013658|Childhood onset motor and cognitive regression syndrome with extrapyramidal movement disorder +0013661|Classic multiminicore myopathy +0013708|Warsaw breakage syndrome +0013774|White Sutton syndrome +0013789|Luscan Lumish syndrome +0013806|CHD3 related developmental delay speech delay intellectual disability abnormalities of vision facial dysmorphism syndrome +0013811|Malan overgrowth syndrome +0013818|Familial steroid resistant nephrotic syndrome with adrenal insufficiency +0013824|Proteasome associated autoinflammatory syndrome +0015001|VEXAS syndrome +0015002|AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY +0015003|Complement hyperactivation angiopathic thrombosis protein losing enteropathy syndrome +0015004|FADD related immunodeficiency +0015005|PACAK ZHUANG syndrome +0015006|STAT5 Haploinsuffciency +0015007|Warburg Cinotti syndrome +0015008|Okur Chung neurodevelopmental syndrome OCNDS +0015016|Striate palmoplantar keratoderma +0015017|Trichorhinophalangeal syndrome type 1 and 3 +0015021|Angioma serpiginosum +0015022|Postsynaptic congenital myasthenic syndromes +0015024|Multiple epiphyseal dysplasia due to collagen 9 anomaly +0015025|Immunodeficiency due to a classical component pathway complement deficiency +0015028|Non specific early onset epileptic encephalopathy +0016075|Congenital limbs face contractures hypotonia developmental delay syndrome +0016481|Methylmalonic aciduria due to transcobalamin receptor defect +0016482|Rieger anomaly +0016484|Anterior segment developmental anomaly without extraocular manifestations +0016486|Autosomal dominant progressive external ophthalmoplegia +0016487|C3 glomerulonephritis +0016490|Primary early onset glaucoma +0016529|Classic Hodgkin lymphoma +0016531|Idiopathic heritable pulmonary arterial hypertension +0016532|Familial hypoaldosteronism +0016533|Normosmic congenital hypogonadotropic hypogonadism +0016537|Homocystinuria without methylmalonic aciduria +0016541|Hemolytic anemia due to glucophosphate isomerase deficiency +0016543|Severe hereditary thrombophilia due to congenital protein S deficiency +0016548|Estrogen resistance syndrome +0016549|Encephalopathy due to sulfite oxidase deficiency +0016551|Acro renal ocular syndrome +0016558|X linked progressive cerebellar ataxia +0016570|Monosomy 13q14 +0016580|Diabetic embryopathy +0016584|X linked intellectual disability epilepsy syndrome +0016586|Nodular neuronal heterotopia +0016589|Familial isolated hypoparathyroidism due to agenesis of parathyroid gland +0016590|Hyposmia nasal and ocular hypoplasia hypogonadotropic hypogonadism syndrome +0016591|Primary pulmonary hypoplasia +0016592|Congenital short bowel syndrome +0016595|Larsen like osseous dysplasia short stature syndrome +0016604|Hypomyelination neuropathy arthrogryposis syndrome +0016608|Omodysplasia +0016610|Young onset Parkinson disease +0016612|Short stature valvular heart disease characteristic facies syndrome +0016622|X linked spasticity intellectual disability epilepsy syndrome +0016624|Deafness onychodystrophy syndrome +0016628|Hereditary xanthinuria +0016629|Hereditary central diabetes insipidus +0016632|T B severe combined immunodeficiency due to JAK3 deficiency +0016637|Nanophthalmos +0016638|ALDH18A1 related De Barsy syndrome +0016640|Distal monosomy 1q +0016650|Familial short QT syndrome +0016651|Torsade de pointes syndrome with short coupling interval +0016653|Craniosynostosis intracranial calcifications syndrome +0016657|Congenital cornea plana +0016663|Pulmonary nodular lymphoid hyperplasia +0016665|Antley Bixler syndrome with genital anomaly and disorder of steroidogenesis +0016666|Distal myopathy with posterior leg and anterior hand involvement +0016667|Childhood absence epilepsy +0016678|Idiopathic steroid sensitive nephrotic syndrome +0016685|Leigh syndrome with cardiomyopathy +0016688|Familial thrombocytosis +0016689|Obesity due to prohormone convertase I deficiency +0016690|Obesity due to melanocortin 4 receptor deficiency +0016691|Bleeding diathesis due to a collagen receptor defect +0016692|Familial isolated restrictive cardiomyopathy +0016693|Retinal arterial tortuosity +0016694|Cystoid macular dystrophy +0016695|Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency +0016696|Juvenile polyposis of infancy +0016699|Neonatal diabetes congenital hypothyroidism congenital glaucoma hepatic fibrosis polycystic kidneys syndrome +0016708|2 aminoadipic 2 oxoadipic aciduria +0016709|Seizures intellectual disability due to hydroxylysinuria syndrome +0016714|Vitamin B12 unresponsive methylmalonic acidemia type mut +0016716|Chondrodysplasia punctata Toriello type +0016717|3 phosphoserine phosphatase deficiency infantile juvenile form +0016720|Recessive dystrophic epidermolysis bullosa inversa +0016721|Oculocutaneous albinism type 1A +0016726|Autosomal recessive hyperinsulinism due to SUR1 deficiency +0016727|Autosomal recessive hyperinsulinism due to Kir6 2 deficiency +0016729|Enteric anendocrinosis +0016730|Senior Boichis syndrome +0016732|Desmin related myopathy with Mallory body like inclusions +0016733|Palmoplantar keratoderma XX sex reversal predisposition to squamous cell carcinoma syndrome +0016736|Microcephalic osteodysplastic dysplasia Saul Wilson type +0016737|Craniometadiaphyseal dysplasia wormian bone type +0016743|X linked intellectual disability Cantagrel type +0016747|X linked intellectual disability Wilson type +0016749|HSD10 disease atypical type +0016751|X linked intellectual disability Shrimpton type +0016752|X linked intellectual disability hypotonia facial dysmorphism aggressive behavior syndrome +0016753|Fried syndrome +0016755|ATTRV122I amyloidosis +0016758|Benign adult familial myoclonic epilepsy +0016763|Lissencephaly type 3 metacarpal bone dysplasia syndrome +0016764|Chronic myeloproliferative disease unclassifiable +0016770|Vacuolar myopathy with sarcoplasmic reticulum protein aggregates +0016772|Autosomal dominant progressive nephropathy with hypertension +0016778|Autosomal recessive generalized epidermolysis bullosa simplex +0016784|Hemolytic anemia due to glutathione reductase deficiency +0016786|Charcot Marie Tooth disease deafness intellectual disability syndrome +0016788|Klippel Trenaunay syndrome +0016790|X linked non syndromic sensorineural deafness type DFN +0016791|Autosomal dominant non syndromic sensorineural deafness type DFNA +0016793|Hypothyroidism due to TSH receptor mutations +0016801|Early onset non syndromic cataract +0016802|Macular coloboma cleft palate hallux valgus syndrome +0016807|Pfeiffer syndrome type 1 +0016808|Pfeiffer syndrome type 2 +0016809|Pfeiffer syndrome type 3 +0016812|Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis +0016820|Genochondromatosis type 2 +0016821|Brachydactyly syndactyly Zhao type +0016823|Atypical hemolytic uremic syndrome with anti factor H antibodies +0016824|Late onset nephronophthisis +0016825|Infantile nephronophthisis +0016832|Midline interhemispheric variant of holoprosencephaly +0016833|Laryngotracheoesophageal cleft type 3 +0016834|X linked intellectual disability Hedera type +0016837|Anonychia congenita totalis +0016838|Lissencephaly due to LIS1 mutation +0016840|Non syndromic posterior hypospadias +0016842|Athyreosis +0016843|Familial thyroid dyshormonogenesis +0016844|Thyroid hemiagenesis +0016847|Monosomy 13q34 +0016848|Temple syndrome due to maternal uniparental disomy of chromosome 14 +0016849|Maternal uniparental disomy of chromosome 20 +0016851|Leydig cell hypoplasia due to complete LH resistance +0016852|Leydig cell hypoplasia due to partial LH resistance +0016854|Renal tubular dysgenesis of genetic origin +0016855|Lymphoproliferative disease associated with primary immune disease +0016857|Developmental defect of the eye +0016860|Autosomal recessive isolated optic atrophy +0016861|Prader Willi syndrome due to maternal uniparental disomy of chromosome 15 +0016867|Southeast Asian ovalocytosis +0016871|Distal myotilinopathy +0016872|Synaptic congenital myasthenic syndromes +0016875|Coloboma of choroid and retina +0016876|Complete cryptophthalmia +0016886|Coralliform cataract +0016888|Early onset partial cataract +0016890|Butterfly shaped pigment dystrophy +0016892|Discrete fixed membranous subaortic stenosis +0016893|Complete atrioventricular septal defect with ventricular hypoplasia +0016894|Complete atrioventricular septal defect tetralogy of Fallot +0016896|Congenital total pulmonary venous return anomaly +0016897|6 phosphogluconate dehydrogenase deficiency +0016898|Lymphedema posterior choanal atresia syndrome +0016902|Metaphyseal chondromatosis with D 2 hydroxyglutaric aciduria +0016905|Myotonia permanens +0016906|Acetazolamide responsive myotonia +0016908|Oligodontia +0016912|Turcot syndrome with polyposis +0016914|Resistance to thyrotropin releasing hormone syndrome +0016916|Genetic recurrent myoglobinuria +0016926|Atypical teratoid rhabdoid tumor +0016936|Renin angiotensin aldosterone system blocker induced angioedema +0016937|Porphyria due to ALA dehydratase deficiency +0016938|Bathing suit ichthyosis +0016944|Familial isolated congenital asplenia +0016947|Lung fibrosis immunodeficiency 46 XX gonadal dysgenesis syndrome +0016960|Distal hereditary motor neuropathy type 7 +0016964|Short stature due to primary acid labile subunit deficiency +0016965|Autosomal dominant macrothrombocytopenia +0016967|Palmoplantar keratoderma Nagashima type +0016968|Second branchial cleft anomaly +0016969|External auditory canal aplasia hypoplasia +0016972|Isolated congenital hypoglossia aglossia +0016974|Tessier number 4 facial cleft +0016978|Congenital or early infantile CACH syndrome +0016979|Late infantile CACH syndrome +0016980|Juvenile or adult CACH syndrome +0016981|Hereditary mixed polyposis syndrome +0016982|Serrated polyposis syndrome +0016983|Cold induced sweating syndrome +0016988|Oculoauricular syndrome Schorderet type +0016989|Hereditary progressive mucinous histiocytosis +0016992|Hb Barts hydrops fetalis +0016999|2p21 microdeletion syndrome +0017001|Benign familial mesial temporal lobe epilepsy +0017002|Rolandic epilepsy speech dyspraxia syndrome +0017005|X linked intellectual disability Nascimento type +0017006|X linked cerebral cerebellar coloboma syndrome +0017007|X linked dominant chondrodysplasia Chassaing Lacombe type +0017008|X linked intellectual disability Van Esch type +0017009|X linked intellectual disability craniofacioskeletal syndrome +0017011|Familial mesial temporal lobe epilepsy with febrile seizures +0017026|FASTKD2 related infantile mitochondrial encephalomyopathy +0017028|Hot water reflex epilepsy +0017033|46 XY disorder of sex development adrenal insufficiency due to CYP11A1 deficiency +0017041|Autosomal thrombocytopenia with normal platelets +0017043|Myeloid lymphoid neoplasm associated with FGFR1 rearrangement +0017044|CLAPO syndrome +0017045|Cernunnos XLF deficiency +0017046|Combined immunodeficiency due to CD3gamma deficiency +0017048|Combined immunodeficiency due to CRAC channel dysfunction +0017049|Immunodeficiency due to CD25 deficiency +0017050|Immunodeficiency due to a late component of complement deficiency +0017053|T B severe combined immunodeficiency due to CD3delta CD3epsilon CD3zeta +0017054|Primary CD59 deficiency +0017056|Severe hemophilia B +0017057|Moderate hemophilia B +0017058|Mild hemophilia B +0017060|Moderate hemophilia A +0017066|Lissencephaly due to TUBA1A mutation +0017068|Short stature delayed bone age due to thyroid hormone metabolism deficiency +0017074|Prader Willi syndrome due to translocation +0017075|Prader Willi syndrome due to imprinting mutation +0017076|Bleeding disorder in hemophilia A carriers +0017077|Bleeding disorder in hemophilia B carriers +0017082|Brain calcification Rajab type +0017083|Obesity due to leptin receptor gene deficiency +0017084|Hyper IgM syndrome with susceptibility to opportunistic infections +0017085|Hyper IgM syndrome without susceptibility to opportunistic infections +0017088|Familial isolated hypoparathyroidism due to impaired PTH secretion +0017090|Hereditary hypercarotenemia and vitamin A deficiency +0017093|Familial clubfoot with or without associated lower limb anomalies +0017094|Endocrine cerebro osteodysplasia syndrome +0017097|Thiamine responsive encephalopathy +0017100|Gonadoblastoma +0017103|Severe neonatal onset encephalopathy with microcephaly +0017106|Idiopathic copper associated cirrhosis +0017109|Inherited congenital spastic tetraplegia +0017111|Congenital lethal myopathy Compton North type +0017114|Classic pantothenate kinase associated neurodegeneration +0017115|Atypical pantothenate kinase associated neurodegeneration +0017118|Mucopolysaccharidosis type 2 severe form +0017119|Mucopolysaccharidosis type 2 attenuated form +0017121|17q21 31 microduplication syndrome +0017123|Progressive polyneuropathy with bilateral striatal necrosis +0017124|Hereditary hypotrichosis with recurrent skin vesicles +0017125|Hereditary thrombophilia due to congenital histidine rich poly L glycoprotein deficiency +0017126|Neonatal acute respiratory distress due to SP B deficiency +0017127|Chronic respiratory distress with surfactant metabolism deficiency +0017128|Sensorineural deafness with dilated cardiomyopathy +0017129|Familial isolated arrhythmogenic right ventricular dysplasia +0017130|Xeroderma pigmentosum Cockayne syndrome complex +0017132|Bleeding diathesis due to thromboxane synthesis deficiency +0017133|Laron syndrome with immunodeficiency +0017134|Rothmund Thomson syndrome type 1 +0017135|Rothmund Thomson syndrome type 2 +0017137|Hemifacial spasm +0017141|Familial infantile bilateral striatal necrosis +0017143|Autosomal recessive optic atrophy OPA7 type +0017144|Severe combined immunodeficiency due to CORO1A deficiency +0017145|Progressive sensorineural hearing loss hypertrophic cardiomyopathy syndrome +0017153|Charcot Marie Tooth disease type 2B5 +0017156|Ehlers Danlos osteogenesis imperfecta syndrome +0017158|Familial generalized lentiginosis +0017159|Familial rhabdoid tumor +0017160|Beckwith Wiedemann syndrome due to CDKN1C mutation +0017161|Familial cerebral saccular aneurysm +0017166|Beta thalassemia X linked thrombocytopenia syndrome +0017168|Hermansky Pudlak syndrome due to BLOC 3 deficiency +0017169|Hermansky Pudlak syndrome due to BLOC 2 deficiency +0017170|Hermansky Pudlak syndrome due to BLOC 1 deficiency +0017171|Severe X linked mitochondrial encephalomyopathy +0017174|Combined immunodeficiency due to CD27 deficiency +0017175|Atypical hypotonia cystinuria syndrome +0017176|Chuvash erythrocytosis +0017177|Familial clubfoot due to 17q23 1q23 2 microduplication +0017178|Beckwith Wiedemann syndrome due to NSD1 mutation +0017179|Isolated thyrotropin releasing hormone deficiency +0017180|Mammary digital nail syndrome +0017181|4q21 microdeletion syndrome +0017183|Progressive supranuclear palsy parkinsonism syndrome +0017186|Dominant hypophosphatemia with nephrolithiasis or osteoporosis +0017187|Progressive cerebello cerebral atrophy +0017189|Autosomal dominant secondary polycythemia +0017190|Primary ciliary dyskinesia retinitis pigmentosa syndrome +0017196|Juvenile cataract microcornea renal glucosuria syndrome +0017197|APC related attenuated familial adenomatous polyposis +0017198|Ectodermal dysplasia syndactyly syndrome +0017199|Ectodermal dysplasia cutaneous syndactyly syndrome +0017200|Occult macular dystrophy +0017203|Autosomal recessive Stickler syndrome +0017204|SATB2 associated syndrome due to a chromosomal rearrangement +0017210|CK syndrome +0017211|46 XY partial gonadal dysgenesis +0017214|Medulloblastoma with extensive nodularity +0017216|Classic medulloblastoma +0017217|Constitutional mismatch repair deficiency syndrome +0017218|Distal 7q11 23 microdeletion syndrome +0017219|Kagami Ogata syndrome +0017220|Temple syndrome due to paternal 14q32 2 microdeletion +0017221|Kagami Ogata syndrome due to maternal 14q32 2 microdeletion +0017222|Temple syndrome due to paternal 14q32 2 hypomethylation +0017223|Kagami Ogata syndrome due to maternal 14q32 2 hypermethylation +0017225|Mitochondrial DNA depletion syndrome encephalomyopathic form +0017227|Mitochondrial myopathy with reversible cytochrome C oxidase deficiency +0017230|Deafness encephaloneuropathy obesity valvulopathy syndrome +0017231|Renal tubulopathy encephalopathy liver failure syndrome +0017234|Combined oxidative phosphorylation defect type 7 +0017238|Leigh syndrome with leukodystrophy +0017239|Leigh syndrome with nephrotic syndrome +0017240|Autosomal recessive sideroblastic anemia +0017241|14q11 2 microdeletion syndrome +0017242|15q14 microdeletion syndrome +0017243|16p11 2p12 2 microdeletion syndrome +0017244|Distal 16p11 2 microdeletion syndrome +0017246|Xp21 deletion syndrome +0017247|Xq27 3q28 duplication syndrome +0017248|Mowat Wilson syndrome due to monosomy 2q22 +0017249|Mowat Wilson syndrome due to a ZEB2 point mutation +0017250|Alagille syndrome due to 20p12 microdeletion +0017251|Alagille syndrome due to a JAG1 point mutation +0017252|Alagille syndrome due to a NOTCH2 point mutation +0017253|Kleefstra syndrome due to a point mutation +0017254|Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency +0017256|Hyperinsulinism due to INSR deficiency +0017257|Acute necrotizing encephalopathy of childhood +0017258|Peeling skin syndrome type A +0017259|Peeling skin syndrome type B +0017260|Familial multiple meningioma +0017262|RAS associated autoimmune leukoproliferative disease +0017267|Hereditary thrombocytopenia with normal platelets +0017268|Neural tube closure defect +0017269|Bilateral polymicrogyria +0017270|Isolated focal cortical dysplasia type IIa +0017271|Isolated focal cortical dysplasia type IIb +0017272|Congenital non communicating hydrocephalus +0017274|Benign epithelial tumor of salivary glands +0017276|Spinocerebellar ataxia type 32 +0017277|Non syndromic male infertility due to sperm motility disorder +0017278|Familial multinodular goiter +0017279|Hyperbiliverdinemia +0017280|10q22 3q23 3 microdeletion syndrome +0017281|Ogden syndrome +0017282|Lower motor neuron syndrome with late adult onset +0017283|Autosomal dominant hyperinsulinism due to SUR1 deficiency +0017284|Autosomal dominant hyperinsulinism due to Kir6 2 deficiency +0017285|Diazoxide resistant focal hyperinsulinism due to SUR1 deficiency +0017286|Diazoxide resistant focal hyperinsulinism due to Kir6 2 deficiency +0017288|Severe combined immunodeficiency due to LCK deficiency +0017289|Septopreoptic holoprosencephaly +0017290|Microform holoprosencephaly +0017291|Pelizaeus Merzbacher disease connatal form +0017292|Null syndrome +0017294|Pelizaeus Merzbacher like disease due to HSPD1 mutation +0017295|Familial steroid resistant nephrotic syndrome with sensorineural deafness +0017296|Fatal infantile hypertonic myofibrillar myopathy +0017297|Hemoglobinopathy Toms River +0017299|Occipital pachygyria and polymicrogyria +0017300|Acrodysostosis with multiple hormone resistance +0017301|Moyamoya angiopathy short stature facial dysmorphism hypergonadotropic hypogonadism syndrome +0017302|Syndromic recessive X linked ichthyosis +0017304|Annular epidermolytic ichthyosis +0017305|Congenital reticular ichthyosiform erythroderma +0017307|Inherited Creutzfeldt Jakob disease +0017308|Larsen like syndrome B3GAT3 type +0017309|Craniosynostosis dental anomalies +0017310|8q21 11 microdeletion syndrome +0017311|Facial dysmorphism developmental delay behavioral abnormalities syndrome due to 10p11 21p12 31 microdeletion +0017312|Autosomal recessive cerebellar ataxia psychomotor delay syndrome +0017313|Autosomal recessive cerebellar ataxia epilepsy intellectual disability syndrome due to WWOX deficiency +0017314|Adult onset autosomal recessive cerebellar ataxia +0017315|Pontocerebellar hypoplasia type 7 +0017316|Glycerol kinase deficiency juvenile form +0017317|Glycerol kinase deficiency adult form +0017320|Autosomal recessive hypophosphatemic rickets +0017321|Hypermethioninemia encephalopathy due to adenosine kinase deficiency +0017323|Familial vesicoureteral reflux +0017326|Intellectual disability alacrima achalasia syndrome +0017327|Congenital cataract microcornea with corneal opacity +0017328|Dysmorphism conductive hearing loss heart defect syndrome +0017330|Glutathione synthetase deficiency with 5 oxoprolinuria +0017333|Infantile glycine encephalopathy +0017334|Atypical glycine encephalopathy +0017336|Familial clubfoot due to 5q31 microdeletion +0017337|Familial clubfoot due to PITX1 point mutation +0017340|PYCR1 related De Barsy syndrome +0017341|Blepharophimosis intellectual disability syndrome MKB type +0017343|MITF related melanoma and renal cell carcinoma predisposition syndrome +0017344|Congenital dyserythropoietic anemia type IV +0017345|Familial isolated arrhythmogenic ventricular dysplasia left dominant form +0017346|Familial isolated arrhythmogenic ventricular dysplasia biventricular form +0017347|Familial isolated arrhythmogenic ventricular dysplasia right dominant form +0017348|Lethal occipital encephalocele skeletal dysplasia syndrome +0017349|EDICT syndrome +0017350|Distal Xq28 microduplication syndrome +0017351|Hypertelorism preauricular sinus punctual pits deafness syndrome +0017352|Hypoinsulinemic hypoglycemia and body hemihypertrophy +0017353|Deficiency in anterior pituitary function variable immunodeficiency syndrome +0017354|Microcephaly capillary malformation syndrome +0017355|Neonatal inflammatory skin and bowel disease +0017361|Kyphoscoliotic Ehlers Danlos syndrome due to FKBP22 deficiency +0017363|Transient infantile hypertriglyceridemia and hepatosteatosis +0017364|Severe congenital hypochromic anemia with ringed sideroblasts +0017365|Congenital cataract hearing loss severe developmental delay syndrome +0017368|Autosomal systemic lupus erythematosus +0017369|PLCG2 associated antibody deficiency and immune dysregulation +0017370|X linked acrogigantism +0017371|Progeroid and marfanoid aspect lipodystrophy syndrome +0017372|Pseudohypoaldosteronism type 2D +0017373|Pseudohypoaldosteronism type 2E +0017374|Autosomal recessive infantile hypercalcemia +0017375|Polymicrogyria due to TUBB2B mutation +0017377|Interstitial lung disease nephrotic syndrome epidermolysis bullosa syndrome +0017378|Autosomal recessive spastic paraplegia type 48 +0017379|Congenital hereditary facial paralysis variable hearing loss syndrome +0017380|Porencephaly microcephaly bilateral congenital cataract syndrome +0017381|Primary microcephaly epilepsy permanent neonatal diabetes syndrome +0017382|Sodium channelopathy related small fiber neuropathy +0017383|Primary dystonia DYT21 type +0017389|Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency +0017392|Erythrocyte galactose epimerase deficiency +0017393|Generalized galactose epimerase deficiency +0017394|Glycogen storage disease due to glycogen branching enzyme deficiency progressive hepatic form +0017395|Glycogen storage disease due to glycogen branching enzyme deficiency non progressive hepatic form +0017400|Glycogen storage disease due to glycogen branching enzyme deficiency adult neuromuscular form +0017403|Combined pancreatic lipase colipase deficiency +0017407|Alpha mannosidosis infantile form +0017408|Alpha mannosidosis adult form +0017409|Early onset spastic ataxia myoclonic epilepsy neuropathy syndrome +0017411|Retinal dystrophy optic nerve edema splenomegaly anhidrosis migraine headache syndrome +0017413|Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome +0017414|12p12 1 microdeletion syndrome +0017415|Developmental and speech delay due to SOX5 deficiency +0017416|Gastric adenocarcinoma and proximal polyposis of the stomach +0017417|Chronic infantile diarrhea due to guanylate cyclase 2C overactivity +0017418|Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency +0017419|Short stature onychodysplasia facial dysmorphism hypotrichosis syndrome +0017420|Autosomal dominant aplasia and myelodysplasia +0017421|Young adult onset distal hereditary motor neuropathy +0017423|15q overgrowth syndrome +0017424|Distal tetrasomy 15q +0017426|CLN11 disease +0017427|ATP13A2 related juvenile neuronal ceroid lipofuscinosis +0017428|Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +0017429|Non progressive cerebellar ataxia with intellectual disability +0017430|Combined immunodeficiency due to STK4 deficiency +0017431|Primary systemic amyloidosis +0017432|Lethal arteriopathy syndrome due to fibulin 4 deficiency +0017433|Atypical dentin dysplasia due to SMOC2 deficiency +0017434|SHOX related short stature +0017435|Short stature due to partial GHR deficiency +0017436|Short stature due to GHSR deficiency +0017439|X linked non progressive cerebellar ataxia +0017440|Cataract congenital heart disease neural tube defect syndrome +0017441|Severe combined immunodeficiency due to DNA PKcs deficiency +0017442|Pancytopenia due to IKZF1 mutations +0017443|Congenital myopathy with internal nuclei and atypical cores +0017444|Familial cortical myoclonus +0017445|Autosomal recessive spastic paraplegia type 53 +0017446|MiT family translocation renal cell carcinoma +0017447|Autosomal recessive myogenic arthrogryposis multiplex congenita +0017449|Inherited cancer predisposing syndrome due to biallelic BRCA2 mutations +0017450|Inherited acute myeloid leukemia +0017451|Acute myeloid leukemia with CEBPA somatic mutations +0017452|Combined oxidative phosphorylation defect type 8 +0017453|Combined oxidative phosphorylation defect type 9 +0017454|Combined oxidative phosphorylation defect type 13 +0017455|Combined oxidative phosphorylation defect type 14 +0017456|Combined oxidative phosphorylation defect type 15 +0017457|Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency +0017458|Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +0017459|Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency +0017460|Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency +0017461|Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency +0017462|Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +0017463|Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +0017464|X linked mendelian susceptibility to mycobacterial diseases +0017465|X linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency +0017466|Amyloidosis cutis dyschromia +0017468|Alazami syndrome +0017469|Microcephalic primordial dwarfism Dauber type +0017470|Encephalopathy hypertrophic cardiomyopathy renal tubular disease syndrome +0017471|Autosomal dominant spastic paraplegia type 41 +0017473|Autosomal recessive spastic paraplegia type 43 +0017474|Autosomal recessive spastic paraplegia type 55 +0017475|Autosomal recessive spastic paraplegia type 54 +0017476|Autosomal recessive spastic paraplegia type 46 +0017477|Autosomal recessive spastic paraplegia type 45 +0017480|Autosomal recessive spastic paraplegia type 56 +0017481|Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency +0017482|Early onset Lafora body disease +0017483|T cell immunodeficiency with epidermodysplasia verruciformis +0017484|Sinoatrial node dysfunction and deafness +0017485|X linked intellectual disability cardiomegaly congestive heart failure syndrome +0017486|Autoinflammation PLCG2 associated antibody deficiency immune dysregulation +0017487|Combined oxidative phosphorylation defect type 11 +0017488|Pontocerebellar hypoplasia type 8 +0017489|ABetaL34V amyloidosis +0017490|ABeta amyloidosis Iowa type +0017491|ABeta amyloidosis Italian type +0017492|ABetaA21G amyloidosis +0017493|ABeta amyloidosis Arctic type +0017494|Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis +0017495|Tall stature long halluces multiple extra epiphyses syndrome +0017496|Developmental delay with autism spectrum disorder and gait instability +0017497|Autosomal dominant neovascular inflammatory vitreoretinopathy +0017498|Microcephalic primordial dwarfism due to ZNF335 deficiency +0017499|X linked central congenital hypothyroidism with late onset testicular enlargement +0017500|Congenital chronic diarrhea with protein losing enteropathy +0017501|Adult onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency +0017502|Microcephaly cerebellar hypoplasia cardiac conduction defect syndrome +0017503|Adult onset chronic progressive external ophthalmoplegia with mitochondrial myopathy +0017507|C3 glomerulopathy +0017508|Generalized juvenile polyposis juvenile polyposis coli +0017509|DNM1L related encephalopathy due to mitochondrial and peroxisomal fission defect +0017513|Immunodeficiency due to ficolin3 deficiency +0017515|Congenital ichthyosis intellectual disability spastic quadriplegia syndrome +0017516|Spectrin associated autosomal recessive cerebellar ataxia +0017517|Progressive external ophthalmoplegia myopathy emaciation syndrome +0017518|DNA2 related mitochondrial DNA deletion syndrome +0017519|ISPD related limb girdle muscular dystrophy R20 +0017520|Autism spectrum disorder due to AUTS2 deficiency +0017521|Familial infantile myoclonic epilepsy +0017522|Progressive myoclonic epilepsy with dystonia +0017523|Early onset progressive neurodegeneration blindness ataxia spasticity syndrome +0017525|Corneal intraepithelial dyskeratosis palmoplantar hyperkeratosis laryngeal dyskeratosis syndrome +0017526|Cobblestone lissencephaly without muscular or ocular involvement +0017527|CLN13 disease +0017528|Facial dysmorphism immunodeficiency livedo short stature syndrome +0017529|Progressive retinal dystrophy due to retinol transport defect +0017531|Oculocutaneous albinism type 7 +0017532|Epileptic encephalopathy with global cerebral demyelination +0017533|Familial primary localized cutaneous amyloidosis +0017534|Rubinstein Taybi syndrome due to CREBBP mutations +0017535|Rubinstein Taybi syndrome due to EP300 haploinsufficiency +0017536|Pyruvate carboxylase deficiency infantile type +0017537|Pyruvate carboxylase deficiency severe neonatal type +0017538|Pyruvate carboxylase deficiency benign type +0017539|Congenital myasthenic syndromes with glycosylation defect +0017540|D L 2 hydroxyglutaric aciduria +0017541|ANK3 related intellectual disability sleep disturbance syndrome +0017542|19p13 13 microdeletion syndrome +0017543|Hemolytic uremic syndrome with DGKE deficiency +0017545|Non hereditary retinoblastoma +0017546|Autosomal recessive cutis laxa type 2 classic type +0017548|Short ulna dysmorphism hypotonia intellectual disability syndrome +0017549|Severe combined immunodeficiency due to CARD11 deficiency +0017550|Combined immunodeficiency due to IL21R deficiency +0017551|Syndactyly camptodactyly and clinodactyly of fifth fingers bifid toes syndrome +0017552|Severe neurodegenerative syndrome with lipodystrophy +0017553|Fetal akinesia cerebral and retinal hemorrhage syndrome +0017554|Hypomyelination with brain stem and spinal cord involvement and leg spasticity +0017555|Multiple mitochondrial dysfunctions syndrome type 3 +0017556|Autosomal recessive cerebellar ataxia pyramidal signs nystagmus oculomotor apraxia syndrome +0017557|Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency +0017558|THOC6 related developmental delay microcephaly facial dysmorphism syndrome +0017561|Non seminomatous germ cell tumor of testis +0017562|Hypohidrosis enamel hypoplasia palmoplantar keratoderma intellectual disability syndrome +0017563|Intellectual disability strabismus syndrome +0017564|Mitochondrial DNA depletion syndrome hepatocerebrorenal form +0017565|Leukoencephalopathy with mild cerebellar ataxia and white matter edema +0017566|CTCF related neurodevelopmental disorder +0017567|X linked parkinsonism spasticity syndrome +0017568|Childhood onset autosomal recessive myopathy with external ophthalmoplegia +0017569|Hyperuricemia pulmonary hypertension renal failure alkalosis syndrome +0017570|Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion +0017572|Alexander disease type I +0017573|Alexander disease type II +0017574|X linked dyserythropoietic anemia with abnormal platelets and neutropenia +0017577|Noonan syndrome like disorder with juvenile myelomonocytic leukemia +0017578|Charcot Marie Tooth disease type 4B3 +0017579|Ichthyosis short stature brachydactyly microspherophakia syndrome +0017581|X linked intellectual disability due to GRIA3 mutations +0017582|Infantile epileptic dyskinetic encephalopathy +0017584|Intellectual disability seizures hypophosphatasia ophthalmic skeletal anomalies syndrome +0017585|Congenital neutropenia myelofibrosis nephromegaly syndrome +0017586|Congenital sideroblastic anemia B cell immunodeficiency periodic fever developmental delay syndrome +0017587|Autosomal recessive intermediate Charcot Marie Tooth disease type C +0017588|Developmental delay facial dysmorphism syndrome due to MED13L deficiency +0017589|Combined oxidative phosphorylation defect type 17 +0017590|Pontocerebellar hypoplasia type 9 +0017591|Primary hyperaldosteronism seizures neurological abnormalities syndrome +0017592|Severe motor and intellectual disabilities sensorineural deafness dystonia syndrome +0017593|Microcornea myopic chorioretinal atrophy telecanthus syndrome +0017594|Severe dermatitis multiple allergies metabolic wasting syndrome +0017595|Diffuse palmoplantar keratoderma with painful fissures +0017596|Focal palmoplantar keratoderma with joint keratoses +0017597|Ataxia intellectual disability oculomotor apraxia cerebellar cysts syndrome +0017598|Oculocutaneous albinism type 5 +0017599|Oculocutaneous albinism type 6 +0017602|STT3A CDG +0017604|Autism spectrum disorder epilepsy arthrogryposis syndrome +0017605|Congenital muscular dystrophy with cerebellar involvement +0017606|Congenital muscular dystrophy with intellectual disability +0017607|Congenital muscular dystrophy without intellectual disability +0017608|Muscle eye brain disease with bilateral multicystic leucodystrophy +0017609|Hypotonia speech impairment severe cognitive delay syndrome +0017610|Multicentric osteolysis nodulosis arthropathy spectrum +0017611|Severe intellectual disability short stature behavioral abnormalities facial dysmorphism syndrome +0017612|Susceptibility to viral and mycobacterial infections due to STAT1 deficiency +0017614|X linked osteoporosis with fractures +0017615|Growth and developmental delay hypotonia vision impairment lactic acidosis syndrome +0017616|SURF1 related Charcot Marie Tooth disease type 4 +0017617|Congenital microcephaly severe encephalopathy progressive cerebral atrophy syndrome +0017618|Familial episodic pain syndrome with predominantly upper body involvement +0017619|Familial episodic pain syndrome with predominantly lower limb involvement +0017620|Primary microcephaly mild intellectual disability young onset diabetes syndrome +0017621|Atypical juvenile parkinsonism +0017622|HSD10 disease infantile type +0017623|HSD10 disease neonatal type +0017624|Feingold syndrome type 1 +0017625|Feingold syndrome type 2 +0017626|Multiple acyl CoA dehydrogenase deficiency severe neonatal type +0017627|Multiple acyl CoA dehydrogenase deficiency mild type +0017628|Silver Russell syndrome due to a point mutation +0017629|Severe neonatal lactic acidosis due to NFS1 ISD11 complex deficiency +0017630|Macrocephaly developmental delay syndrome +0017631|Obesity due to CEP19 deficiency +0017632|Foveal hypoplasia optic nerve decussation defect anterior segment dysgenesis syndrome +0017634|Familial hyperprolactinemia +0017635|Hereditary isolated aplastic anemia +0017636|Intellectual disability coarse face macrocephaly cerebellar hypotrophy syndrome +0017637|Joubert syndrome with Jeune asphyxiating thoracic dystrophy +0017638|Autosomal dominant Charcot Marie Tooth disease type 2U +0017639|Peripheral neuropathy myopathy hoarseness hearing loss syndrome +0017640|Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies +0017641|Severe combined immunodeficiency due to IKK2 deficiency +0017642|Sacral agenesis abnormal ossification of the vertebral bodies persistent notochordal canal syndrome +0017643|Polyglucosan body myopathy type 1 +0017644|Autosomal spastic paraplegia type 58 +0017645|Microcephaly thin corpus callosum intellectual disability syndrome +0017646|TCR alpha beta positive T cell deficiency +0017647|Combined immunodeficiency due to MALT1 deficiency +0017650|Focal facial dermal dysplasia type IV +0017651|Alpha B crystallin related late onset myopathy +0017654|Male infertility with teratozoospermia due to single gene mutation +0017655|Pancytopenia developmental delay syndrome +0017656|Autosomal recessive spastic paraplegia type 61 +0017657|Autosomal recessive spastic paraplegia type 62 +0017658|Autosomal recessive spastic paraplegia type 63 +0017659|Autosomal recessive spastic paraplegia type 64 +0017660|Autosomal spastic paraplegia type 72 +0017661|Multiple mitochondrial dysfunctions syndrome type 1 +0017662|Multiple mitochondrial dysfunctions syndrome type 2 +0017663|Familial median cleft of the upper and lower lips +0017664|Moyamoya disease with early onset achalasia +0017665|Episodic ataxia with slurred speech +0017666|MEND syndrome +0017668|1p31p32 microdeletion syndrome +0017669|Autosomal dominant focal non epidermolytic palmoplantar keratoderma with plantar blistering +0017670|Familial bicuspid aortic valve +0017671|Progressive myoclonic epilepsy type 5 +0017672|Diffuse cerebral and cerebellar atrophy intractable seizures progressive microcephaly syndrome +0017673|Intellectual disability facial dysmorphism syndrome due to SETD5 haploinsufficiency +0017674|Tatton Brown Rahman syndrome +0017675|Female infertility due to zona pellucida defect +0017676|Global developmental delay lung cysts overgrowth Wilms tumor syndrome +0017677|Autosomal recessive cerebellar ataxia epilepsy intellectual disability syndrome due to TUD deficiency +0017678|Autosomal recessive cerebellar ataxia epilepsy intellectual disability syndrome due to RUBCN deficiency +0017679|DITRA +0017680|Pontocerebellar hypoplasia type 10 +0017681|Mild phosphoribosylpyrophosphate synthetase superactivity +0017682|Severe phosphoribosylpyrophosphate synthetase superactivity +0017684|Hereditary late onset Parkinson disease +0017686|Maternal riboflavin deficiency +0017687|Early onset epileptic encephalopathy cortical blindness intellectual disability facial dysmorphism syndrome +0017689|Autosomal recessive cerebellar ataxia due to STUB1 deficiency +0017690|Epidermolysis bullosa simplex due to BP230 deficiency +0017691|Epidermolysis bullosa simplex due to exophilin 5 deficiency +0017693|Cranio cervical dystonia with laryngeal and upper limb involvement +0017694|Adult onset cervical dystonia DYT23 type +0017695|Bleeding disorder due to CalDAG GEFI deficiency +0017696|Severe combined immunodeficiency due to CTPS1 deficiency +0017697|Woolly hair palmoplantar keratoderma syndrome +0017698|Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +0017699|Combined oxidative phosphorylation defect type 20 +0017700|Combined oxidative phosphorylation defect type 21 +0017702|Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +0017703|Nail and teeth abnormalities marginal palmoplantar keratoderma oral hyperpigmentation syndrome +0017704|Mucolipidosis type III alpha beta +0017706|Progressive myoclonic epilepsy type 8 +0017707|Colobomatous microphthalmia rhizomelic dysplasia syndrome +0017708|TOR1AIP1 related limb girdle muscular dystrophy +0017709|X linked colobomatous microphthalmia microcephaly intellectual disability short stature syndrome +0017710|Combined immunodeficiency due to OX40 deficiency +0017711|Primary immunodeficiency with post measles mumps rubella vaccine viral infection +0017712|Autosomal recessive spastic paraplegia type 57 +0017713|Familial ossifying fibroma +0017714|Autosomal dominant Charcot Marie Tooth disease type 2Y +0017715|Progressive myoclonic epilepsy type 7 +0017716|Keppen Lubinsky syndrome +0017717|Short stature advanced bone age early onset osteoarthritis syndrome +0017718|Lethal neonatal spasticity epileptic encephalopathy syndrome +0017719|Colobomatous optic disc macular atrophy chorioretinopathy syndrome +0017720|COG2 CDG +0017721|X linked microcephaly growth retardation prognathism cryptorchidism syndrome +0017722|Progeroid features hepatocellular carcinoma predisposition syndrome +0017723|Autosomal recessive intermediate Charcot Marie Tooth disease type D +0017724|Intellectual disability expressive aphasia facial dysmorphism syndrome +0017725|Periodic fever infantile enterocolitis autoinflammatory syndrome +0017727|Cataract growth hormone deficiency sensory neuropathy sensorineural hearing loss skeletal dysplasia syndrome +0017728|Microcephalic primordial dwarfism insulin resistance syndrome +0017729|Familial atrial tachyarrhythmia infra Hisian cardiac conduction disease +0017730|Retinitis pigmentosa juvenile cataract short stature intellectual disability syndrome +0017731|Combined immunodeficiency enteropathy spectrum +0017732|Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity +0017733|Ketoacidosis due to monocarboxylate transporter 1 deficiency +0017734|RARS related autosomal recessive hypomyelinating leukodystrophy +0017735|Steel syndrome +0017736|PCNA related progressive neurodegenerative photosensitivity syndrome +0017737|STAT3 related early onset multisystem autoimmune disease +0017738|Severe autosomal recessive macrothrombocytopenia +0017739|PURA related severe neonatal hypotonia seizures encephalopathy syndrome +0017740|PURA related severe neonatal hypotonia seizures encephalopathy syndrome due to a point mutation +0017741|ITM2B amyloidosis +0017742|PDE4D haploinsufficiency syndrome +0017743|Lethal fetal cerebrorenogenitourinary agenesis hypoplasia syndrome +0017744|Interstitial lung disease due to SP C deficiency +0017745|Interstitial lung disease due to ABCA3 deficiency +0017746|Severe early onset pulmonary alveolar proteinosis due to MARS deficiency +0017748|L ferritin deficiency +0017750|Familial porphyria cutanea tarda +0017751|Charcot Marie Tooth disease type 2S +0017754|Classic stiff person syndrome +0017756|Focal stiff limb syndrome +0017758|Mandibulofacial dysostosis with alopecia +0017759|Combined oxidative phosphorylation defect type 23 +0017760|46 XX ovarian dysgenesis short stature syndrome +0017761|Cerebellar facial dental syndrome +0017762|Autoimmune interstitial lung disease arthritis syndrome +0017763|Autosomal dominant spastic paraplegia type 73 +0017764|Peeling skin leukonychia acral punctate keratoses cheilitis knuckle pads syndrome +0017765|Combined oxidative phosphorylation defect type 24 +0017766|Autoimmune hemolytic anemia autoimmune thrombocytopenia primary immunodeficiency syndrome +0017767|3 methylglutaconic aciduria type 7 +0017768|Juvenile onset diabetes mellitus central and peripheral neurodegeneration syndrome +0017769|Limb girdle muscular dystrophy due to POMK deficiency +0017770|Autosomal recessive spastic paraplegia type 9B +0017771|Mitochondrial pyruvate carrier deficiency +0017772|Polymerase proofreading related adenomatous polyposis +0017773|Hypomyelination cerebellar atrophy hypoplasia of the corpus callosum syndrome +0017774|Tremor ataxia central hypomyelination syndrome +0017775|Combined oxidative phosphorylation defect type 25 +0017776|Pigmentation defects palmoplantar keratoderma skin carcinoma syndrome +0017777|Autosomal dominant Charcot Marie Tooth disease type 2V +0017778|Klippel Feil anomaly myopathy facial dysmorphism syndrome +0017779|Progressive scapulohumeroperoneal distal myopathy +0017780|Progressive autosomal recessive ataxia deafness syndrome +0017781|Isolated focal non epidermolytic palmoplantar keratoderma +0017782|Regressive spondylometaphyseal dysplasia +0017783|Symptomatic form of fragile X syndrome in female carriers +0017784|Familial congenital nasolacrimal duct obstruction +0017785|Neurodevelopmental disorder craniofacial dysmorphism cardiac defect skeletal anomalies syndrome +0017786|Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency +0017787|Polyendocrine polyneuropathy syndrome +0017788|Acquired Creutzfeldt Jakob disease +0017789|Pleomorphic salivary gland adenoma +0017790|NTHL1 related attenuated familial adenomatous polyposis +0017791|Infantile multisystem neurologic endocrine pancreatic disease +0017792|X linked myotubular myopathy abnormal genitalia syndrome +0017793|Polyglucosan body myopathy type 2 +0017794|Autosomal dominant mitochondrial myopathy with exercise intolerance +0017795|Predisposition to invasive fungal disease due to CARD9 deficiency +0017796|Neonatal encephalomyopathy cardiomyopathy respiratory distress syndrome +0017797|Autosomal dominant intellectual disability craniofacial anomalies cardiac defects syndrome +0017798|Progressive essential tremor speech impairment facial dysmorphism intellectual disability abnormal behavior syndrome +0017799|Syndromic sensorineural deafness due to combined oxidative phosphorylation defect +0017800|X linked intellectual disability short stature overweight syndrome +0017801|Progressive myoclonic epilepsy type 9 +0017802|Intellectual disability macrocephaly hypotonia behavioral abnormalities syndrome +0017803|Microcephaly corpus callosum hypoplasia intellectual disability facial dysmorphism syndrome +0017804|Microcephaly intellectual disability sensorineural hearing loss epilepsy abnormal muscle tone syndrome +0017805|Megalencephaly severe kyphoscoliosis overgrowth syndrome +0017806|ITPA related lethal infantile neurological disorder with cataract and cardiac involvement +0017807|Complex lethal osteochondrodysplasia +0017808|Progressive spondyloepimetaphyseal dysplasia short stature short fourth metatarsals intellectual disability syndrome +0017809|Multiple mitochondrial dysfunctions syndrome type 4 +0017810|Spinocerebellar ataxia type 41 +0017811|Spinocerebellar ataxia type 42 +0017812|Spondyloepiphyseal dysplasia Stanescu type +0017813|Autosomal recessive spastic paraplegia type 75 +0017814|Craniofacial dysplasia short stature ectodermal anomalies intellectual disability syndrome +0017815|X linked intellectual disability cerebellar hypoplasia spondylo epiphyseal dysplasia syndrome +0017816|Spastic paraplegia severe developmental delay epilepsy syndrome +0017817|Short stature brachydactyly obesity global developmental delay syndrome +0017818|NEK9 related lethal skeletal dysplasia +0017819|Primary dystonia DYT27 type +0017820|Fever associated acute infantile liver failure syndrome +0017821|Basel Vanagaite Smirin Yosef syndrome +0017822|Familial cavitary optic disc anomaly +0017823|Fetal encasement syndrome +0017824|Severe intellectual disability corpus callosum agenesis facial dysmorphism cerebellar ataxia syndrome +0017825|TMEM199 CDG +0017826|Martinique crinkled retinal pigment epitheliopathy +0017827|Autosomal recessive spastic paraplegia type 77 +0017828|Familial patent arterial duct +0017829|Autosomal dominant Charcot Marie Tooth disease type 2Z +0017830|Autosomal recessive Charcot Marie Tooth disease type 2X +0017831|Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect +0017832|Macrocephaly intellectual disability left ventricular non compaction syndrome +0017833|Acute infantile liver failure cerebellar ataxia peripheral sensory motor neuropathy syndrome +0017834|LIMS2 related limb girdle muscular dystrophy +0017835|Autosomal dominant thrombocytopenia with platelet secretion defect +0017836|Seizures scoliosis macrocephaly syndrome +0017837|VPS11 related autosomal recessive hypomyelinating leukodystrophy +0017838|WAC related facial dysmorphism developmental delay behavioral abnormalities syndrome +0017839|Facial dysmorphism developmental delay behavioral abnormalities syndrome due to WAC point mutation +0017840|Severe hypotonia psychomotor developmental delay strabismus cardiac septal defect syndrome +0017841|Microcephalic cortical malformations short stature due to RTTN deficiency +0017842|Autosomal recessive spastic paraplegia type 74 +0017843|Isolated generalized anhidrosis with normal sweat glands +0017844|Colobomatous macrophthalmia microcornea syndrome +0017845|CCDC115 CDG +0017846|SLC39A8 CDG +0017847|BVES related limb girdle muscular dystrophy +0017848|Hereditary pediatric Behcet like disease +0017849|Combined immunodeficiency due to TFRC deficiency +0017850|Micrognathia recurrent infections behavioral abnormalities mild intellectual disability syndrome +0017851|PMP2 related Charcot Marie Tooth disease type 1 +0017852|IL21 related infantile inflammatory bowel disease +0017853|Postnatal microcephaly infantile hypotonia spastic diplegia dysarthria intellectual disability syndrome +0017854|Combined oxidative phosphorylation defect type 26 +0017855|Pontine autosomal dominant microangiopathy with leukoencephalopathy +0017856|Combined oxidative phosphorylation defect type 27 +0017857|Cytosolic phospholipase A2 alpha deficiency associated bleeding disorder +0017858|Progressive microcephaly seizures cortical blindness developmental delay syndrome +0017859|PMP22 RAI1 contiguous gene duplication syndrome +0017860|Kosaki overgrowth syndrome +0017861|Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +0017862|Palatal anomalies widely spaced teeth facial dysmorphism developmental delay syndrome +0017863|Combined oxidative phosphorylation defect type 29 +0017864|Combined oxidative phosphorylation defect type 30 +0017865|Lethal left ventricular non compaction seizures hypotonia cataract developmental delay syndrome +0017866|Hereditary sensory and autonomic neuropathy type 8 +0017867|Progressive familial intrahepatic cholestasis type 5 +0017868|MSH3 related attenuated familial adenomatous polyposis +0017869|POGLUT1 related limb girdle muscular dystrophy R21 +0017870|Hereditary thrombocytopenia with early onset myelofibrosis +0017871|Global developmental delay visual anomalies progressive cerebellar atrophy truncal hypotonia syndrome +0017872|X linked intellectual disability global development delay facial dysmorphism sacral caudal remnant syndrome +0017873|PYCR2 related microcephaly progressive leukoencephalopathy +0017874|Familial Chilblain lupus +0017875|USP18 deficiency +0017876|Familial schizencephaly +0017877|HTRA1 related autosomal dominant cerebral small vessel disease +0017878|Adenylosuccinate synthetase like 1 related distal myopathy +0017879|Acquired schizencephaly +0017880|CLCN4 related X linked intellectual disability syndrome +0017881|MFF related encephalopathy due to mitochondrial and peroxisomal fission defect +0017882|Prenatal onset spinal muscular atrophy with congenital bone fractures +0017883|Congenital muscular dystrophy respiratory failure skin abnormalities joint hyperlaxity syndrome +0017884|Macrothrombocytopenia lymphedema developmental delay facial dysmorphism camptodactyly syndrome +0017885|Pierpont syndrome +0017886|Microcephaly congenital cataract psoriasiform dermatitis syndrome +0017887|Female infertility due to oocyte meiotic arrest +0017888|Familial progressive retinal dystrophy iris coloboma congenital cataract syndrome +0017889|Split foot malformation mesoaxial polydactyly syndrome +0017890|14q32 duplication syndrome +0017891|Autosomal dominant Charcot Marie Tooth disease type 2W +0017892|Autosomal recessive spastic paraplegia type 76 +0017893|Global developmental delay neuro ophthalmological abnormalities seizures intellectual disability syndrome +0017894|Transketolase deficiency +0017895|Severe growth deficiency strabismus extensive dermal melanocytosis intellectual disability syndrome +0017896|TBCK related intellectual disability syndrome +0017897|Early onset epilepsy intellectual disability brain anomalies syndrome +0017898|TELO2 related intellectual disability neurodevelopmental disorder +0017899|DDX41 related hematologic malignancy predisposition syndrome +0017900|Distal myopathy Tateyama type +0017901|Vibratory angioedema +0017902|RERE related neurodevelopmental syndrome +0017903|Retinitis pigmentosa hearing loss premature aging short stature facial dysmorphism syndrome +0017904|DIAPH1 related sensorineural hearing loss thrombocytopenia syndrome +0017905|Infantile onset generalized dyskinesia with orofacial involvement +0017906|Childhood onset benign chorea with striatal involvement +0017907|Squamous cell carcinoma of the hypopharynx +0017908|Squamous cell carcinoma of the larynx +0017909|Charcot Marie Tooth disease type 2T +0017910|C11ORF73 related autosomal recessive hypomyelinating leukodystrophy +0017911|Early onset progressive diffuse brain atrophy microcephaly muscle weakness optic atrophy syndrome +0017912|Kyphosis lateral tongue atrophy myofibrillar myopathy syndrome +0017913|EVEN plus syndrome +0017914|Early onset progressive encephalopathy spastic ataxia distal spinal muscular atrophy syndrome +0017915|Ocular anomalies axonal neuropathy developmental delay syndrome +0017916|MME related autosomal dominant Charcot Marie Tooth disease type 2 +0017917|Spinocerebellar ataxia type 43 +0017918|Childhood onset basal ganglia degeneration syndrome +0017919|Short rib polydactyly syndrome type 5 +0017920|16p13 2 microdeletion syndrome +0017921|Tall stature intellectual disability renal anomalies syndrome +0017922|Multinucleated neurons anhydramnios renal dysplasia cerebellar hypoplasia hydranencephaly syndrome +0017923|Early onset progressive encephalopathy hearing loss pons hypoplasia brain atrophy syndrome +0017924|Microcephaly corpus callosum and cerebellar vermis hypoplasia facial dysmorphism intellectual disability syndrom +0017925|SIN3A related intellectual disability syndrome due to a point mutation +0017926|X linked external auditory canal atresia dilated internal auditory canal facial dysmorphism syndrome +0017927|Squamous cell carcinoma of the nasal cavity and paranasal sinuses +0017928|Squamous cell carcinoma of the oropharynx +0017929|Squamous cell carcinoma of salivary glands +0017930|Severe neurodevelopmental disorder with feeding difficulties stereotypic hand movement bilateral cataract +0017931|Osteosclerotic metaphyseal dysplasia +0017932|Squamous cell carcinoma of the oral cavity +0017933|Squamous cell carcinoma of the lip +0017934|Mitochondrial myopathy cerebellar ataxia pigmentary retinopathy syndrome +0017935|STAG1 related intellectual disability facial dysmorphism gastroesophageal reflux syndrome +0017936|Alkaline ceramidase 3 deficiency +0017937|Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome +0017938|Severe combined immunodeficiency due to LAT deficiency +0017939|Combined immunodeficiency due to Moesin deficiency +0017940|3 methylglutaconic aciduria type 9 +0017941|Combined immunodeficiency due to GINS1 deficiency +0017942|Early onset seizures distal limb anomalies facial dysmorphism global developmental delay syndrome +0017943|Psychomotor regression oculomotor apraxia movement disorder nephropathy syndrome +0017944|Mucopolysaccharidosis like syndrome with congenital heart defects and hematopoietic disorders +0017945|Stromme syndrome +0017946|Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction +0017947|Gabriele de Vries syndrome +0017948|Intellectual disability cardiac anomalies short stature joint laxity syndrome +0017949|Intrauterine growth restriction congenital multiple cafe au lait macules increased sister chromatid exchange syndrome +0017950|Hyperphenylalaninemia due to DNAJC12 deficiency +0017951|Intermediate epidermolysis bullosa simplex with cardiomyopathy +0017952|Autosomal recessive spastic paraplegia type 78 +0017953|Intellectual disability seizures abnormal gait facial dysmorphism syndrome +0017954|Autosomal recessive anterior segment dysgenesis +0017955|Xq25 microduplication syndrome +0017956|Proximal myopathy with focal depletion of mitochondria +0017957|Spastic paraplegia intellectual disability nystagmus obesity syndrome +0017958|Dystonia parkinsonism hypermanganesemia syndrome +0017959|Autosomal dominant Charcot Marie Tooth disease type 2DD +0017960|PLAA associated neurodevelopmental disorder +0017961|Congenital vertebral cardiac renal anomalies syndrome +0017962|Infantile hypotonia oculomotor anomalies hyperkinetic movements developmental delay syndrome +0017963|Severe myopia generalized joint laxity short stature syndrome +0017964|NKX6 2 related autosomal recessive hypomyelinating leukodystrophy +0017965|Non specific syndromic intellectual disability +0017966|Hydrops lactic acidosis sideroblastic anemia multisystemic failure syndrome +0017967|Hypohidrosis electrolyte imbalance lacrimal gland dysfunction ichthyosis xerostomia syndrome +0017968|Duane retraction syndrome with congenital deafness +0017969|Neurodevelopmental delay seizures ophthalmic anomalies osteopenia cerebellar atrophy syndrome +0017970|Intellectual disability autism speech apraxia craniofacial dysmorphism syndrome +0017971|Male infertility due to acephalic spermatozoa +0017972|Mixed phenotype acute leukemia +0017973|Familial GPIHBP1 deficiency +0017974|B3GALT6 related spondylodysplastic Ehlers Danlos syndrome +0017975|Classical like Ehlers Danlos syndrome type 2 +0017976|Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy +0017977|Palmoplantar keratoderma hereditary motor and sensory neuropathy syndrome +0017978|Combined immunodeficiency due to CD70 deficiency +0017979|Combined immunodeficiency due to ITK deficiency +0017980|Growth delay intellectual disability hepatopathy syndrome +0017981|Combined immunodeficiency due to CARMIL2 deficiency +0017982|GNB5 related intellectual disability cardiac arrhythmia syndrome +0017983|Auditory neuropathy optic atrophy syndrome +0017984|Isolated hyperchlorhidrosis +0017985|PRUNE1 related neurological syndrome +0017986|Atypical hemolytic uremic syndrome with complement gene abnormality +0017987|Global developmental delay alopecia macrocephaly facial dysmorphism structural brain anomalies syndrome +0017988|RNF13 related severe early onset epileptic encephalopathy +0017989|Congenital myopathy with reduced type 2 muscle fibers +0017990|NAD P HX dehydratase deficiency +0017991|NAD P HX epimerase deficiency +0017992|Pancreatic agenesis holoprosencephaly syndrome +0017993|Oculocerebrodental syndrome +0017994|Neonatal epileptic encephalopathy due to glutaminase deficiency +0017995|Heme oxygenase 1 deficiency +0017996|Autosomal recessive extra oral halitosis +0017997|Anterior maxillary protrusion strabismus intellectual disability syndrome +0017998|TMEM94 associated congenital heart defect facial dysmorphism developmental delay syndrome +0017999|Combined oxidative phosphorylation defect type 39 +0018000|Infantile inflammatory bowel disease with neurological involvement +0018001|Craniosynostosis microretrognathia severe intellectual disability syndrome +0018002|Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta +0018003|Idiopathic steroid resistant nephrotic syndrome +0018004|Multiple mitochondrial dysfunctions syndrome type 6 +0018005|Galactose mutarotase deficiency +0018006|QRSL1 related combined oxidative phosphorylation defect +0018007|Posterior predominant lissencephaly broad flat pons and medulla midline crossing defects syndrome +0018008|Blepharophimosis ptosis epicanthus inversus syndrome type 1 +0018009|Brachydactyly type B1 +0018010|RFVT2 related riboflavin transporter deficiency +0018011|Microcephaly micromelia syndrome +0018012|WARS2 related combined oxidative phosphorylation defect +0018013|SATB2 associated syndrome due to a pathogenic variant +0018014|NLRC4 related familial cold autoinflammatory syndrome +0018015|QRICH1 related intellectual disability chondrodysplasia syndrome +0018016|Spondylometaphyseal dysplasia corneal dystrophy syndrome +0018017|Oculocutaneous albinism type 8 +0018018|MTHFS related developmental delay microcephaly short stature epilepsy syndrome +0018019|Facial dysmorphism hypertrichosis epilepsy intellectual disability developmental delay gingival overgrowth syndrome +0018020|Cerebellar hypoplasia intellectual disability congenital microcephaly dystonia anemia growth retardation syndrome +0018021|Coloboma osteopetrosis microphthalmia macrocephaly albinism deafness syndrome +0018022|KIAA1109 related early lethal congenital brain malformations arthrogryposis syndrome +0018023|CLCN6 related childhood onset progressive neurodegeneration peripheral neuropathy syndrome +0018024|Oculogastrointestinal neurodevelopmental syndrome +0018025|Spondyloepiphyseal dysplasia sensorineural hearing loss intellectual disability Leber congenital amaurosis syndrome +0018026|Aplastic anemia intellectual disability dwarfism syndrome +0018027|EN1 related dorsoventral syndrome +0018028|Parkinsonism with polyneuropathy +0018029|Pontocerebellar hypoplasia type 11 +0018030|Pontocerebellar hypoplasia type 12 +0018031|Pontocerebellar hypoplasia type 13 +0018032|Pontocerebellar hypoplasia type 14 +0018036|Lethal pontocerebellar hypoplasia hypotonia respiratory insufficiency syndrome due to a point mutation +0018037|Lethal pontocerebellar hypoplasia hypotonia respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster +0018615|Familial dilated cardiomyopathy with conduction defect due to LMNA mutation +0018639|Progressive symmetric erythrokeratodermia +0018642|Hereditary persistence of fetal hemoglobin beta thalassemia syndrome +0018643|Autosomal recessive non syndromic intellectual disability +0018644|Autosomal recessive non syndromic sensorineural deafness type DFNB +0018646|Overgrowth macrocephaly facial dysmorphism syndrome +0018647|Hereditary persistence of alpha fetoprotein +0018648|Hereditary persistence of fetal hemoglobin sickle cell disease syndrome +0018649|Isolated ATP synthase deficiency +0018650|Autosomal recessive nail dysplasia +0018652|Isolated sedoheptulokinase deficiency +0018653|DNAJB2 related Charcot Marie Tooth disease type 2 +0018654|Lethal fetal brain malformation duodenal atresia bilateral renal hypoplasia syndrome +0018655|Microcephaly short stature limb abnormalities syndrome +0018679|Non rhizomelic chondrodysplasia punctata +0018681|Isolated corpus callosum agenesis +0018684|Digestive duplication +0018685|Spondylometaphyseal dysplasia +0018687|Congenital herpes simplex virus infection +0018690|Arbovirus fever +0018694|Keratosis pilaris atrophicans +0018695|Systemic lupus erythematosus +0018700|Congenital primary megaureter +0018701|Non histaminic angioedema +0018703|Pili bifurcati +0018706|Congenital cervical spinal stenosis +0018709|Primary adult heart tumor +0018710|Primary pediatric heart tumor +0018712|Absence of the pulmonary artery +0018713|Alopecia antibody deficiency +0018715|Isolated lissencephaly type 1 without known genetic defects +0018716|Radial deficiency tibial hypoplasia syndrome +0018717|Abnormal origin of the pulmonary artery +0018718|Autosomal recessive cerebellar ataxia +0018719|Mitochondrial DNA related cardiomyopathy and hearing loss +0018725|Univentricular heart +0018728|Benign focal seizures of adolescence +0018729|Non distal monosomy 10q +0018730|Deletion 5q35 +0018731|Distal monosomy 7q36 +0018732|Distal monosomy 9p +0018733|Xp22 3 microdeletion syndrome +0018734|Sporadic fetal brain disruption sequence +0018735|Familial idiopathic dilatation of the right atrium +0018736|Mosaic trisomy 1 +0018738|Non distal trisomy 13q +0018741|Mosaic trisomy 16 +0018742|Distal trisomy 18q +0018743|Distal trisomy 19q +0018744|Mosaic trisomy 20 +0018745|Distal trisomy 6p +0018746|Fibular dimelia diplopodia syndrome +0018747|45 X 46 XY mixed gonadal dysgenesis +0018749|Focal segmental or multifocal dystonia +0018751|Toluene embryopathy +0018755|Cleft lip palate deafness sacral lipoma syndrome +0018756|Median cleft lip mandibule +0018758|Congenital systemic arteriovenous fistula +0018759|Progressive non infectious anterior vertebral fusion +0018760|Dysmorphism pectus carinatum joint laxity syndrome +0018762|Craniosynostosis Herrmann Opitz type +0018763|Hypotrichosis intellectual disability Lopes type +0018764|Dysmorphism short stature deafness disorder of sex development syndrome +0018767|Kallmann syndrome heart disease syndrome +0018769|Congenital primary lymphedema without systemic or visceral involvement +0018771|Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +0018776|Osteochondrodysplatic nanism deafness retinitis pigmentosa syndrome +0018777|Adult familial nephronophthisis spastic quadriparesia syndrome +0018778|Osteoporosis macrocephaly blindness joint hyperlaxity syndrome +0018780|Pericardial and diaphragmatic defect +0018782|46 XX disorder of sex development anorectal anomalies syndrome +0018784|Mirror polydactyly vertebral segmentation limbs defects syndrome +0018785|Congenital systemic veins anomaly +0018787|Multiple sclerosis ichthyosis factor VIII deficiency syndrome +0018789|Central nervous system calcification deafness tubular acidosis anemia syndrome +0018790|Disorder of plasmalogens biosynthesis +0018791|Telecanthus hypertelorism strabismus pes cavus syndrome +0018792|Tetrasomy 5p +0018796|Neural tube defect +0018798|Aorto ventricular tunnel +0018800|Oral erosive lichen +0018803|Colchicine poisoning +0018804|Methanol poisoning +0018806|Paraquat poisoning +0018807|Digitalis poisoning +0018811|Severe disseminated cytomegalovirus infection in immunocompetent patients +0018812|Fulminant viral hepatitis +0018814|Mitochondrial disorder due to a defect in mitochondrial protein synthesis +0018815|Neurometabolic disorder due to serine deficiency +0018816|Malignant sex cord stromal tumor of ovary +0018817|Acute opioid poisoning +0018819|Staphylococcal scarlet fever +0018821|Staphylococcal necrotizing pneumonia +0018822|Gastric linitis plastica +0018823|Familial cervical artery dissection +0018826|Acquired kinky hair syndrome +0018827|Acitretin etretinate embryopathy +0018829|Acute tricyclic antidepressant poisoning +0018830|Acute poisoning by drugs with membrane stabilizing effect +0018831|Idiopathic neonatal atrial flutter +0018833|Superficial pemphigus +0018835|Postinfectious vasculitis +0018836|Embryonal carcinoma of the central nervous system +0018839|Lichen amyloidosis +0018840|Microlissencephaly micromelia syndrome +0018841|Zellweger like syndrome without peroxisomal anomalies +0018842|Duane anomaly myopathy scoliosis syndrome +0018843|Anterior cutaneous nerve entrapment syndrome +0018845|Orbital leiomyoma +0018846|Posterior cortical atrophy +0018852|Cirrhotic cardiomyopathy +0018853|Mazabraud syndrome +0018859|Acrofacial dysostosis Kennedy Teebi type +0018860|Benign idiopathic neonatal seizures +0018865|Hepatoportal sclerosis +0018868|Short fifth metacarpals insulin resistance syndrome +0018869|Sensorineural hearing loss early graying essential tremor syndrome +0018872|Segmental odontomaxillary dysplasia +0018873|Rare hemorrhagic disorder due to a constitutional coagulation factors defect +0018875|Rare genetic tumor +0018876|Multiple congenital anomalies dysmorphic syndrome +0018878|Tumor of hematopoietic and lymphoid tissues +0018884|Lysosomal disease +0018889|Rare constitutional aplastic anemia +0018890|Neurometabolic disease +0018893|Rare parathyroid disease and phosphocalcic metabolism anomaly +0018894|Vascular anomaly or angioma +0018895|Dysostosis with brachydactyly +0018896|Congenital membranous nephropathy due to fetomaternal anti neutral endopeptidase alloimmunization +0018897|Bilateral acute depigmentation of the iris +0018898|Circumscribed palmoplantar hypokeratosis +0018902|Adult acute respiratory distress syndrome +0018903|Congenital Epstein Barr virus infection +0018904|Rare pulmonary hypertension +0018905|Rare hemorrhagic disorder due to a constitutional platelet anomaly +0018909|Dentinogenesis imperfecta short stature hearing loss intellectual disability syndrome +0018911|Rare central nervous system and retinal vascular disease +0018913|Benign paroxysmal torticollis of infancy +0018915|Rare genetic neurological disorder +0018917|Muscular channelopathy +0018918|Intractable diarrhea of infancy +0018919|Global developmental delay osteopenia ectodermal defect syndrome +0018920|Kidney tubulopathy dilated cardiomyopathy syndrome +0018921|Ossification anomalies psychomotor developmental delay syndrome +0018922|Spinal muscular atrophy Dandy Walker malformation cataracts syndrome +0018923|Visceral neuropathy brain anomalies facial dysmorphism developmental delay syndrome +0018925|Oligocone trichromacy +0018926|Brain malformation congenital heart disease postaxial polydactyly syndrome +0018927|Angioosteohypotrophic syndrome +0018928|Tropical endomyocardial fibrosis +0018930|Primary progressive freezing gait +0018931|6q terminal deletion syndrome +0018932|Primary lymphedema +0018933|Auricular abnormalities cleft lip with or without cleft palate ocular abnormalities syndrome +0018935|Genetic obesity +0018936|Rare genetic odontologic disease +0018937|Disorder of amino acid and other organic acid metabolism +0018938|Folinic acid responsive seizures +0018940|Interstitial granulomatous dermatitis with arthritis +0018943|Trichodysplasia amelogenesis imperfecta syndrome +0018945|Cerebral organic aciduria +0018947|Classic organic aciduria +0018949|Disorder of bile acid synthesis +0018950|Disorder of neurotransmitter metabolism and transport +0018951|Disorder of cobalamin metabolism and transport +0018952|Creatine deficiency syndrome +0018953|Disorder of methionine cycle and sulfur amino acid metabolism +0018954|Disorder of fatty acid oxidation and ketone body metabolism +0018955|Disorder of gamma aminobutyric acid metabolism +0018956|Gluconeogenesis disorder +0018957|Glucose transport disorder +0018960|Disorder of ketolysis +0018961|Disorder of ornithine or proline metabolism +0018962|Disorder of pentose phosphate metabolism +0018963|Disorder of peptide metabolism +0018964|Disorder of phenylalanin or tyrosine metabolism +0018966|Disorder of pyridoxine metabolism +0018968|Disorder of serine or glycine metabolism +0018969|Sterol biosynthesis disorder +0018972|Disorder of energy metabolism +0018974|Disorder of lysosomal amino acid transport +0018976|Disorder of biogenic amine metabolism and transport +0018977|Oligosaccharidosis +0018978|Other metabolic disease with skin involvement +0018979|Metabolic disease involving other neurotransmitter deficiency +0018981|Sterol metabolism disorder +0018983|Diazoxide resistant focal hyperinsulinism +0018984|Epidermal disease +0018987|Acrokeratoderma +0018990|Other epidermal disorder +0018991|Other genetic epidermal disease +0018993|Epidermal appendage anomaly +0018997|Isolated hair shaft abnormality +0018998|Syndromic hair shaft abnormality +0019000|Isolated nail anomaly +0019001|Syndromic nail anomaly +0019002|Sebaceous gland anomaly +0019003|Pigmentation anomaly of the skin +0019006|Dermis disorder +0019007|Dermis elastic tissue disorder +0019009|Mixed dermis disorder +0019010|Other dermis disorder +0019013|Unclassified genetic skin disorder +0019014|Rare skin tumor or hamartoma +0019015|Metabolic disease with skin involvement +0019016|Mucopolysaccharidosis with skin involvement +0019019|Immune deficiency with skin involvement +0019023|Phakomatosis cesioflammea +0019024|Phakomatosis cesiomarmorata +0019025|Phakomatosis spilorosea +0019026|Pili gemini +0019027|Mild hyperphenylalaninemia +0019028|Autoimmune bullous skin disease +0019029|Urogenital tract malformation +0019033|Murine typhus +0019034|Pseudotyphus of California +0019036|Regional odontodysplasia +0019037|Vulvovaginal gingival syndrome +0019038|Narcolepsy type 2 +0019040|Mycoplasma encephalitis +0019043|Rubella panencephalitis +0019044|Macrostomia preauricular tags external ophthalmoplegia syndrome +0019045|LUMBAR syndrome +0019046|Idiopathic malabsorption due to bile acid synthesis defects +0019047|Hinman syndrome +0019048|Collagen type III glomerulopathy +0019049|Craniofacial conodysplasia +0019051|Dysspondyloenchondromatosis +0019052|Ischiovertebral syndrome +0019053|X linked intellectual disability hypogammaglobulinemia progressive neurological deterioration syndrome +0019054|X linked intellectual disability epilepsy progressive joint contractures dysmorphism syndrome +0019055|X linked intellectual disability macrocephaly macroorchidism syndrome +0019056|X linked intellectual disability Pai type +0019057|X linked intellectual disability Seemanova type +0019058|X linked intellectual disability Stevenson type +0019059|X linked intellectual disability Stoll type +0019060|X linked intellectual disability acromegaly hyperactivity syndrome +0019061|X linked neurodegenerative syndrome Bertini type +0019062|X linked neurodegenerative syndrome Hamel type +0019063|X linked intellectual disability ataxia apraxia syndrome +0019064|Rheumatoid factor positive polyarticular juvenile idiopathic arthritis +0019065|Wild type ABeta2M amyloidosis +0019066|Atypical lichen myxedematosus +0019067|Lissencephaly type 3 familial fetal akinesia sequence syndrome +0019068|Lissencephaly with cerebellar hypoplasia +0019073|Non amyloid monoclonal immunoglobulin deposition disease +0019075|Nodal marginal zone B cell lymphoma +0019083|Methotrexate associated lymphoproliferative disorders +0019084|Hypothalamic hamartomas with gelastic seizures +0019088|Myoclonic epilepsy in non progressive encephalopathies +0019089|Diffuse palmoplantar keratoderma acrocyanosis syndrome +0019090|Rare intellectual disability +0019091|Non syndromic genetic deafness +0019092|Obesity colitis hypothyroidism cardiac hypertrophy developmental delay syndrome +0019095|Esophageal malformation +0019096|Rare dementia +0019098|Inflammatory pseudotumor of the liver +0019099|Radiation myelitis +0019101|Mixed type autoimmune hemolytic anemia +0019105|Sepsis in premature infants +0019106|Recurrent hepatitis C virus induced liver disease in liver transplant recipients +0019107|Complications after hematopoietic stem cell transplantation +0019108|Moderate and severe traumatic brain injury +0019110|Diffuse alveolar hemorrhage +0019111|Non infectious posterior uveitis +0019113|Acute peripheral arterial occlusion +0019114|Acquired aneurysmal subarachnoid hemorrhage +0019115|Cocaine intoxication +0019116|Systemic monochloroacetate poisoning +0019117|Hepatitis B reinfection following liver transplantation +0019118|Partial deep dermal and full thickness burns +0019119|Other acquired skin disease +0019120|Invasive infections due to vancomycin resistant enterococci +0019121|Scarring in glaucoma filtration surgical procedures +0019123|Severe early onset axonal neuropathy due to MFN2 deficiency +0019124|Hereditary motor and sensory neuropathy with acrodystrophy +0019125|Centrifugal lipodystrophy +0019126|Drug induced localized lipodystrophy +0019127|Idiopathic localized lipodystrophy +0019128|Panniculitis induced localized lipodystrophy +0019129|Pressure induced localized lipoatrophy +0019132|Hypertrophic or verrucous lupus erythematosus +0019135|Secondary intestinal lymphangiectasia +0019137|Nodular lichen myxedematosus +0019138|Discrete papular lichen myxedematosus +0019139|Papular mucinosis of infancy +0019141|Self healing papular mucinosis +0019142|Localized lichen myxedematosus with mixed features of different subtypes +0019143|Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms +0019144|Scleromyxedema without monoclonal gammopathy +0019145|Syndromic genetic deafness +0019146|Rare endocrine growth disease +0019148|46 XX disorder of sex development induced by fetal androgens excess +0019149|46 XY disorder of sex development due to a testosterone synthesis defect +0019150|46 XY disorder of sex development due to adrenal and testicular steroidogenesis defect +0019151|46 XY disorder of sex development due to testicular steroidogenesis defect +0019152|Other metabolic disease +0019153|Adenovirus infection in immunocompromised patients +0019154|Acquired monoclonal Ig light chain associated Fanconi syndrome +0019155|Unspecified juvenile idiopathic arthritis +0019156|46 XX disorder of sex development induced by maternal derived androgen +0019160|Pituitary deficiency due to Rathke cleft cysts +0019161|Pituitary dermoid and epidermoid cysts +0019163|Pituitary deficiency due to empty sella turcica syndrome +0019164|Duplication of the esophagus +0019165|Congenital esophageal diverticulum +0019166|Chronic pneumonitis of infancy +0019169|Congenital ectropion uveae +0019174|Congenital megacalycosis +0019175|Pauci immune glomerulonephritis +0019176|Transient pseudohypoaldosteronism +0019179|Unilateral congenital megacalycosis +0019180|Congenital bilateral megacalycosis +0019182|Ulnar hemimelia +0019183|Juvenile sialidosis type 2 +0019184|Congenital sialidosis type 2 +0019185|FGFR3 related chondrodysplasia +0019186|Type 2 collagen related bone disorder +0019187|Type 11 collagen related bone disorder +0019188|Sulfation related bone disorder +0019189|Perlecan related bone disorder +0019190|Filamin related bone disorder +0019191|Multiple epiphyseal dysplasia and pseudoachondroplasia +0019192|Multiple metaphyseal dysplasia +0019193|Spondylodysplastic dysplasia +0019194|Acromelic dysplasia +0019195|Mesomelic and rhizo mesomelic dysplasia +0019197|Slender bone dysplasia +0019198|Primary bone dysplasia with multiple joint dislocations +0019200|Primary bone dysplasia with increased bone density +0019201|Primary bone dysplasia with decreased bone density +0019202|Primary bone dysplasia with defective bone mineralization +0019203|Lysosomal storage disease with skeletal involvement +0019204|Primary osteolysis +0019205|Primary bone dysplasia with disorganized development of skeletal components +0019206|Cleidocranial dysplasia and isolated cranial ossification defect +0019207|Dysostosis with predominant craniofacial involvement +0019208|Dysostosis with predominant vertebral and costal involvement +0019209|Patellar dysostosis +0019210|Non syndromic limb reduction defect +0019211|Non syndromic polydactyly syndactyly and or hyperphalangy +0019212|Syndrome with synostosis or other joint formation defect +0019213|Overgrowth syndrome +0019214|Chromosomal disease with overgrowth +0019215|Lethal chondrodysplasia +0019217|Non syndromic renal or urinary tract malformation +0019218|Syndromic renal or urinary tract malformation +0019219|Pediatric systemic lupus erythematosus +0019220|Mixed cryoglobulinemia type II +0019221|Mixed cryoglobulinemia type III +0019222|Heavy chain deposition disease +0019223|Light and heavy chain deposition disease +0019224|AApoAI amyloidosis +0019225|ALys amyloidosis +0019226|AFib amyloidosis +0019228|Genetic cystic renal disease +0019229|Nephropathy secondary to a storage or other metabolic disease +0019231|Hematological disorder with renal involvement +0019232|Rare cause of hypertension +0019236|Laryngotracheoesophageal cleft type 1 +0019237|Laryngotracheoesophageal cleft type 2 +0019238|Laryngotracheoesophageal cleft type 4 +0019239|X linked intellectual disability Porteous type +0019240|Hamel cerebro palato cardiac syndrome +0019241|X linked intellectual disability Golabi Ito Hall type +0019242|X linked intellectual disability Sutherland Haan type +0019247|Severe intellectual disability epilepsy anal anomalies distal phalangeal hypoplasia +0019248|Non functioning paraganglioma +0019250|Mills syndrome +0019251|Recessive mitochondrial ataxia syndrome +0019252|Autosomal dominant cerebellar ataxia type I +0019253|Autosomal dominant cerebellar ataxia type III +0019254|Autosomal dominant cerebellar ataxia type IV +0019256|Chronic hepatic porphyria +0019258|Secondary short bowel syndrome +0019261|Tricuspid valve agenesis +0019263|Straddling or overriding tricuspid valve +0019264|Accessory tricuspid valve tissue +0019265|Anomaly of the tricuspid subvalvular apparatus +0019266|Congenital mitral valve insufficiency and or stenosis +0019267|Cleft mitral valve +0019269|Univentricular cardiopathy +0019270|Arterial duct anomaly +0019271|Premature closure of the arterial duct +0019272|Non acquired pituitary hormone deficiency +0019273|Congenital coronary artery aneurysm +0019274|Disease associated with non acquired combined pituitary hormone deficiency +0019277|Congenital anomaly of the coronary sinus +0019278|Acquired pituitary hormone deficiency +0019279|Pituitary hormone deficiency of tumoral origin +0019280|Pituitary hormone deficiency of meningeal origin +0019283|Atrial appendage anomaly +0019284|Adenohypophysitis +0019285|Panhypophysitis +0019286|Pituitary hormone deficiency of vascular origin +0019288|Pituitary hormone deficiency secondary to a granulomatous disease +0019289|Pituitary hormone deficiency secondary to storage disease +0019290|Post traumatic pituitary deficiency +0019291|Acquired central diabetes insipidus +0019293|Acquired premature ovarian failure +0019294|Non acquired premature ovarian failure +0019295|Congenital hypothyroidism due to developmental anomaly +0019296|Primary congenital hypothyroidism without thyroid developmental anomaly +0019297|Congenital hypothyroidism due to transplacental passage of TSH binding inhibitory antibodies +0019298|Idiopathic congenital hypothyroidism +0019299|Congenital thyroid malformation without hypothyroidism +0019300|Mosaic trisomy 4 +0019301|Mosaic trisomy 5 +0019302|Mosaic trisomy 10 +0019303|Distal trisomy 1p36 +0019304|Distal trisomy 2p +0019305|Distal trisomy 3p +0019306|4p16 3 microduplication syndrome +0019307|Distal trisomy 7p +0019308|Beckwith Wiedemann syndrome due to 11p15 microduplication +0019309|8p inverted duplication deletion syndrome +0019310|Distal trisomy 2q +0019311|3q26 microduplication syndrome +0019312|Distal trisomy 4q +0019313|Distal trisomy 5q +0019315|Distal trisomy 8q +0019316|Distal trisomy 9q +0019319|Distal trisomy 13q +0019320|Distal trisomy 16q +0019321|Distal trisomy 20q +0019322|Distal trisomy 22q +0019323|Non distal trisomy 9q +0019324|Monosomy 22 +0019325|Distal monosomy 7p +0019326|Distal monosomy 19p13 3 +0019327|Distal monosomy 4q +0019328|Distal monosomy 12q +0019329|Distal monosomy 14q +0019330|Non distal monosomy 12q +0019331|Maternal uniparental disomy of chromosome 2 +0019332|Maternal uniparental disomy of chromosome 4 +0019333|Maternal uniparental disomy of chromosome 6 +0019334|Silver Russell syndrome due to maternal uniparental disomy of chromosome 7 +0019335|Maternal uniparental disomy of chromosome 9 +0019336|Maternal uniparental disomy of chromosome 16 +0019337|Maternal uniparental disomy of chromosome 21 +0019338|Maternal uniparental disomy of chromosome 22 +0019339|Paternal uniparental disomy of chromosome 5 +0019340|Paternal uniparental disomy of chromosome 6 +0019341|Paternal uniparental disomy of chromosome 7 +0019342|Beckwith Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 +0019343|Paternal uniparental disomy of chromosome 20 +0019344|Paternal uniparental disomy of chromosome 21 +0019345|X small rings +0019346|Rare genetic deafness +0019347|Isolated partial vaginal agenesis +0019349|Isochromosome Y +0019350|Rare otorhinolaryngological malformation +0019352|Early onset schizophrenia +0019356|GRFoma +0019358|PPoma +0019359|Thyroid lymphoma +0019360|Bronchial neuroendocrine tumor +0019361|Thymic neuroendocrine tumor +0019365|Panner disease +0019368|Dural sinus malformation +0019369|Persistent placoid maculopathy +0019371|Dementia pugilistica +0019372|Caribbean parkinsonism +0019376|Multiloculated renal cyst +0019377|Renal tubular dysgenesis due to twin twin transfusion +0019378|Drug related renal tubular dysgenesis +0019379|Pauci immune glomerulonephritis with ANCA +0019380|Pauci immune glomerulonephritis without ANCA +0019382|Maternal uniparental disomy of chromosome 13 +0019383|Gastroduodenal malformation +0019384|Intestinal malformation +0019385|Respiratory or thoracic malformation +0019388|Rare disease with odontological manifestation +0019389|Rare neurologic disease with psychiatric involvement +0019390|Cranial malformation +0019391|Digestive tract malformation +0019392|Visceral malformation of the liver biliary tract pancreas or spleen +0019393|Diaphragmatic or abdominal wall malformation +0019394|Central nervous system malformation +0019395|Respiratory or mediastinal malformation +0019397|Rare female infertility +0019399|Rare genetic cardiac disease +0019400|Rare genetic renal disease +0019405|Rare otorhinolaryngologic tumor +0019408|Gonadal dysgenesis of gynecological interest +0019409|46 XX disorder of sex development induced by androgens excess +0019410|46 XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue +0019411|Syndrome with 46 XY disorder of sex development +0019412|Autosomal recessive congenital cerebellar ataxia +0019413|Autosomal recessive metabolic cerebellar ataxia +0019414|Autosomal recessive cerebellar ataxia due to a DNA repair defect +0019415|Autosomal recessive degenerative and progressive cerebellar ataxia +0019416|Autosomal recessive syndromic cerebellar ataxia +0019417|Autosomal anomaly +0019419|Total autosomal trisomy +0019420|Partial autosomal trisomy tetrasomy +0019421|Total autosomal monosomy +0019422|Partial autosomal monosomy +0019423|Autosomal uniparental disomy +0019424|Maternal uniparental disomy +0019425|Paternal uniparental disomy +0019427|Sex chromosome number anomaly +0019428|Sex chromosome structural anomaly +0019429|Chromosome Y structural anomaly +0019430|Chromosome X structural anomaly +0019431|Malformation syndrome with hamartosis +0019432|Combined dystonia +0019434|Chronic encephalitis +0019435|Neonatal epilepsy syndrome +0019436|Infantile epilepsy syndrome +0019437|Childhood onset epilepsy syndrome +0019438|Adolescent onset epilepsy syndrome +0019439|Genetic non syndromic obesity +0019441|Histiocytic and dendritic cell tumor +0019442|Macrophage or histiocytic tumor +0019443|Immunodeficiency associated lymphoproliferative disease +0019444|Laminopathy +0019445|Male infertility due to gonadal dysgenesis +0019446|Male infertility due to obstructive azoospermia +0019447|Autosomal dominant isolated diffuse palmoplantar keratoderma +0019448|Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature +0019449|Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature +0019450|Autosomal recessive isolated diffuse palmoplantar keratoderma +0019451|Autosomal recessive disease with focal palmoplantar keratoderma as a major feature +0019452|Constitutional anemia due to iron metabolism disorder +0019455|Rare constitutional hemolytic anemia due to a red cell membrane anomaly +0019458|Rare constitutional hemolytic anemia due to an enzyme disorder +0019459|Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies +0019460|Hemolytic anemia due to a disorder of glycolytic enzymes +0019461|Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder +0019462|Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder +0019463|Constitutional megaloblastic anemia due to folate metabolism disorder +0019464|Vitamin B12 and folate independent constitutional megaloblastic anemia +0019469|Alpha granule disease +0019470|Dense granule disease +0019474|Acquired neuromuscular junction disease +0019475|Genetic neuromuscular junction disease +0019478|Genetic motor neuron disease +0019479|Acquired motor neuron disease +0019480|Malformation of the cerebellar vermis +0019481|Malformation of the cerebellar hemispheres +0019482|Cranial nerve and nuclear aplasia +0019483|Posterior fossa malformation +0019484|Neurodegenerative disease with dementia +0019485|Frontotemporal degeneration with dementia +0019486|Ataxia with dementia +0019487|Early onset ataxia with dementia +0019488|Late onset ataxia with dementia +0019489|Infectious disease with dementia +0019490|Metabolic disease with dementia +0019491|Cerebral lipidosis with dementia +0019492|Rare cerebrovascular dementia +0019493|Microphthalmia anophthalmia coloboma +0019494|Syndromic aniridia +0019496|Congenital malformation of the eyelid +0019497|Microblepharon ablephara syndrome +0019498|Eyelid border anomaly +0019499|Syndromic ankyloblepharon filiforme adnatum +0019500|Syndromic eyelid coloboma +0019501|Rare eyelid malposition disorder +0019503|Secondary ectropion +0019504|Syndromic epicanthus +0019506|Syndromic outer canthal malposition +0019508|Rare eyebrow eyelash disorder +0019511|Lacrimal drainage system anomaly +0019512|EEC syndrome and related disorders +0019515|Rare hyperopia and astigmatism +0019516|Syndromic hyperopia +0019517|Syndromic keratoconus +0019520|Posterior corneal dystrophy +0019521|Syndromic corneal dystrophy +0019522|Congenital malformation of the eye with glaucoma as a major feature +0019523|Corneodysgenesis +0019524|Rare disease with glaucoma as a major feature +0019525|Rare lens disease +0019527|Syndromic cataract +0019528|Chromosomal anomaly with cataract +0019529|Metabolic disease with cataract +0019530|Renal disease with cataract +0019531|Musculoskeletal disease with cataract +0019532|Dentocutaneous disease with cataract +0019533|Craniofacial anomaly with cataract +0019534|Lens size anomaly +0019535|Lens position anomaly +0019536|Lens shape anomaly +0019537|Color vision disease +0019538|Syndromic rod cone dystrophy +0019539|Vitreoretinopathy +0019540|Hereditary optic neuropathy +0019541|Rare disorder with strabismus +0019542|Syndromic disorder with strabismus +0019543|Craniostenosis with strabismus +0019544|Rare oculomotor nerve disorder +0019545|Congenital trochlear nerve palsy +0019546|Supranuclear eye movement disorder +0019547|Oculomotor apraxia +0019548|Oculocutaneous or ocular albinism +0019550|Heart position anomaly +0019551|Transposition of the great arteries and conotruncal cardiac anomaly +0019552|Aortic malformation +0019553|Pulmonary artery or pulmonary branch anomaly +0019554|Atrioventricular valve anomaly +0019555|Congenital tricuspid malformation +0019558|Rare atrial defect and interatrial communication +0019559|Congenital pulmonary veins anomaly +0019561|Noonan syndrome and Noonan related syndrome +0019562|Genetic neurological muscular channelopathy +0019563|Neurological muscular channelopathy due to a genetic sodium channel defect +0019564|Neurological muscular channelopathy due to a genetic chloride channel defect +0019565|Neurological muscular channelopathy due to a genetic calcium channel defect +0019566|Neurological muscular channelopathy due to a genetic potassium channel defect +0019567|Neurological muscular channelopathy due to a genetic ryanodine receptor defect +0019568|Genetic neurological channelopathy of the central nervous system +0019569|Neurological channelopathy of the central nervous system due to a genetic sodium channel defect +0019570|Neurological channelopathy of the central nervous system due to a genetic calcium channel defect +0019571|Neurological channelopathy of the central nervous system due to a genetic potassium channel defect +0019572|Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect +0019573|Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect +0019574|Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect +0019575|Autoimmune neurological channelopathy +0019576|Prader Willi syndrome due to paternal 15q11q13 deletion +0019577|Angelman syndrome due to maternal 15q11q13 deletion +0019578|Angelman syndrome due to paternal uniparental disomy of chromosome 15 +0019579|Isochromosomy Yp +0019580|Isochromosomy Yq +0019581|Benign childhood occipital epilepsy Panayiotopoulos type +0019582|Benign childhood occipital epilepsy Gastaut type +0019584|Unclassified myelodysplastic myeloproliferative disease +0019586|Unclassified myelodysplastic syndrome +0019590|Intravascular large B cell lymphoma +0019599|X linked complex spastic paraplegia +0019600|Alpha crystallinopathy +0019601|Acute motor and sensory axonal neuropathy +0019602|Acute motor axonal neuropathy +0019603|Blake pouch cyst +0019604|Multiple system atrophy parkinsonian type +0019607|Partial cryptophthalmia +0019608|Inverse Marcus Gunn phenomenon +0019609|Climatic droplet keratopathy +0019611|Essential iris atrophy +0019612|Multifocal pattern dystrophy simulating fundus flavimaculatus +0019613|Fundus pulverulentus +0019614|Congenitally uncorrected transposition of the great arteries with coarctation +0019617|Double outlet right ventricle with non committed subpulmonary ventricular septal defect +0019618|Pulmonary valve agenesis intact ventricular septum persistent ductus arteriosus syndrome +0019619|Pulmonary artery coming from patent ductus arteriosus +0019620|Discrete fibromuscular subaortic stenosis +0019621|Tunnel subaortic stenosis +0019623|Congenital anomaly of the tricuspid valve chordae +0019624|Parachute tricuspid valve +0019626|Congenital supravalvular mitral ring +0019627|Congenital unguarded mitral orifice +0019628|Accessory mitral valve tissue +0019629|Mitral valve agenesis +0019631|Straddling and or overriding mitral valve +0019634|Congenital patent ductus arteriosus aneurysm +0019635|Encircling double aortic arch +0019638|Neuhauser anomaly +0019642|Pulmonary artery hypoplasia +0019643|Coronary ostial stenosis or atresia +0019644|Abnormal number of coronary ostia +0019645|Malposition of a coronary ostium +0019646|Laubry Pezzi syndrome +0019647|Congenital Gerbode defect +0019648|Juxtaposition of the atrial appendages +0019649|Ectasia of the right atrial appendage +0019650|Ectasia of the left atrial appendage +0019652|Persistent left superior vena cava connecting through coronary sinus to left sided atrium +0019653|Right superior vena cava connecting to left sided atrium +0019654|Persistent left superior vena cava connecting to the roof of left sided atrium +0019655|Absence of innominate vein +0019656|Subaortic course of innominate vein +0019657|Agenesis of the superior vena cava +0019658|Coronary sinus stenosis +0019659|Coronary sinus atresia +0019660|Right inferior vena cava connecting to left sided atrium +0019661|Persistent eustachian valve +0019662|Azygos continuation of the inferior vena cava +0019664|Inferior vena cava interruption without azygos continuation +0019666|Congenital complete agenesis of pericardium +0019667|Congenital partial agenesis of pericardium +0019668|Pleuro pericardial cyst +0019669|Hemolytic anemia due to erythrocyte adenosine deaminase overproduction +0019672|Tarsal kink syndrome +0019673|Isolated congenital ectropion +0019674|Euryblepharon +0019675|Congenital eyelid retraction +0019677|Mosaic monosomy X +0019678|Paternal uniparental disomy of chromosome 13 +0019679|49 XYYYY syndrome +0019681|Turner syndrome due to structural X chromosome anomalies +0019682|Cheirospondyloenchondromatosis +0019683|Dermotrichic syndrome +0019684|Mesial temporal lobe epilepsy with hippocampal sclerosis +0019685|Early onset obesity hyperphagia severe developmental delay syndrome +0019689|Nipah virus disease +0019692|Secondary syringomyelia +0019693|Idiopathic syringomyelia +0019696|Thymic neuroendocrine carcinoma +0019697|Acute megakaryoblastic leukemia in Down syndrome +0019698|Cushing syndrome due to ectopic ACTH secretion +0019700|ACTH independent Cushing syndrome +0019702|Streptobacillary rat bite fever +0019703|House allergic alveolitis +0019704|Occupational allergic alveolitis +0019705|Malignant dysgerminomatous germ cell tumor of the ovary +0019706|Extragonadal non dysgerminomatous germ cell tumor +0019708|Theca steroid producing cell malignant tumor of ovary not further specified +0019713|Secondary pulmonary hemosiderosis +0019714|Heiner syndrome +0019715|Pleuropulmonary blastoma type 1 +0019716|Pleuropulmonary blastoma type 2 +0019717|Pleuropulmonary blastoma type 3 +0019724|Intermediate DEND syndrome +0019726|Relapsing epidemic typhus +0019728|Reticular perineurioma +0019729|Sclerosing perineurioma +0019730|Extraneural perineurioma +0019731|Lissencephaly with cerebellar hypoplasia type A +0019732|Lissencephaly with cerebellar hypoplasia type B +0019733|Lissencephaly with cerebellar hypoplasia type C +0019734|Lissencephaly with cerebellar hypoplasia type D +0019735|Lissencephaly with cerebellar hypoplasia type E +0019736|Lissencephaly with cerebellar hypoplasia type F +0019739|Primary plasmacytoma of the bone +0019740|Extramedullary soft tissue plasmacytoma +0019743|Solitary necrotic nodule of the liver +0019744|Esophageal duplication cyst +0019745|Tubular duplication of the esophagus +0019746|Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies +0019747|Acquired angioedema type 2 +0019748|Acquired angioedema type 1 +0019750|Neuroendocrine tumor of stomach +0019751|Duodenal neuroendocrine tumor +0019752|Jejunal neuroendocrine tumor +0019753|Ileal neuroendocrine tumor +0019754|Neuroendocrine neoplasm of appendix +0019755|Neuroendocrine tumor of the colon +0019756|Neuroendocrine tumor of the rectum +0019757|Neuroendocrine tumor of anal canal +0019758|Laryngeal neuroendocrine tumor +0019759|Middle ear neuroendocrine tumor +0019760|Primary hepatic neuroendocrine carcinoma +0019761|Gallbladder neuroendocrine tumor +0019765|Adrenal paraganglial tumor +0019768|Neuroendocrine tumor with other location +0019769|FRAXF syndrome +0019770|Autosomal dominant complex spastic paraplegia +0019771|Autosomal dominant pure spastic paraplegia +0019772|Autosomal recessive complex spastic paraplegia +0019773|Autosomal recessive pure spastic paraplegia +0019774|Cleft hard palate +0019775|Sub cortical nodular heterotopia +0019777|Unilateral hemispheric polymicrogyria +0019779|Marin Amat syndrome +0019780|Pulmonary valve agenesis tetralogy of Fallot absence of ductus arteriosus syndrome +0019781|African tick typhus +0019782|Rare genetic eye disease +0019783|Rare non syndromic intellectual disability +0019784|Anomaly of the mitral subvalvular apparatus +0019785|Genetic cardiac rhythm disease +0019786|Rare gastroesophageal disease +0019789|Rare parenchymal liver disease +0019792|Rare hepatic and biliary tract tumor +0019794|Rare bronchopulmonary tumor +0019800|Polyendocrinopathy +0019802|Primary adrenal insufficiency +0019804|Genetic chronic primary adrenal insufficiency +0019805|Acquired chronic primary adrenal insufficiency +0019806|Combined T and B cell immunodeficiency +0019807|Immunodeficiency predominantly affecting antibody production +0019808|Quantitative and or qualitative congenital phagocyte defect +0019809|Constitutional neutropenia +0019810|Primary immunodeficiency due to a defect in innate immunity +0019811|Immunodeficiency due to a complement cascade protein anomaly +0019814|Rare epilepsy +0019815|Medullar disease +0019816|Rare ataxia +0019818|Brain inflammatory disease +0019819|Neurovascular malformation +0019820|Other syndrome with lissencephaly as a major feature +0019823|Complex hereditary spastic paraplegia +0019824|Autosomal dominant limb girdle muscular dystrophy +0019828|Spotted fever rickettsiosis +0019830|Human herpesvirus 8 related disorder +0019831|Unexplained periodic fever syndrome +0019832|Multiple congenital anomalies dysmorphic syndrome intellectual disability +0019833|Multiple congenital anomalies dysmorphic syndrome without intellectual disability +0019834|Rare syndromic intellectual disability +0019835|Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent +0019836|Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor +0019837|Acute myeloid leukemia with t 8 21 q22 q22 translocation +0019838|Chronic diarrhea due to glucoamylase deficiency +0019839|Congenital enterocyte heparan sulfate deficiency +0019840|Undetermined colitis +0019841|Congenital intestinal transport defect +0019842|Intestinal disease due to vitamin absorption anomaly +0019843|Intestinal disease due to fat malabsorption +0019844|Congenital intestinal disease due to an enzymatic defect +0019845|Congenital enteropathy involving intestinal mucosa development +0019846|Rare disease involving intestinal motility +0019850|Metabolic disease with intestinal involvement +0019853|Myopathic intestinal pseudoobstruction +0019854|Unclassified intestinal pseudoobstruction +0019855|Non syndromic esophageal malformation +0019856|Syndromic esophageal malformation +0019857|Non syndromic gastroduodenal malformation +0019858|Syndromic gastroduodenal malformation +0019859|Non syndromic intestinal malformation +0019860|Syndromic intestinal malformation +0019861|Non syndromic visceral malformation +0019862|Syndromic visceral malformation +0019863|Non syndromic diaphragmatic or abdominal wall malformation +0019864|Syndromic diaphragmatic or abdominal wall malformation +0019865|Non syndromic central nervous system malformation +0019866|Syndrome with a central nervous system malformation as a major feature +0019867|Non syndromic respiratory or mediastinal malformation +0019868|Syndromic respiratory or mediastinal malformation +0019871|Syndrome with limb malformations as a major feature +0019872|Non syndromic limb malformation +0019874|Syndromic anorectal malformation +0019877|Infectious epithelial keratitis +0019880|Corneal endotheliitis +0019881|Segmental outgrowth lipomatosis arteriovenous malformation epidermal nevus syndrome +0019882|Intractable diarrhea choanal atresia eye anomalies syndrome +0019883|Cardiac anomalies heterotaxy syndrome +0019884|Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk +0019885|Macular amyloidosis +0019888|Syndromic optic nerve hypoplasia +0019889|Choanal atresia unilateral +0019890|Choanal atresia bilateral +0019891|Primary laryngeal lymphangioma +0019892|Neonatal brainstem dysfunction +0019893|Laryngotracheal angioma +0019894|Pierre Robin syndrome associated with collagen disease +0019896|Pierre Robin syndrome associated with a chromosomal anomaly +0019897|Pierre Robin syndrome associated with branchial archs anomalies +0019898|Pierre Robin syndrome associated with bone disease +0019899|Teratogenic Pierre Robin syndrome +0019900|Developmental anomaly of metabolic origin +0019902|Malformation syndrome with short stature +0019903|Overgrowth obesity syndrome +0019904|Rare developmental defect with skin mucosae involvement +0019905|Rare developmental defect with connective tissue involvement +0019906|Progeroid syndrome +0019907|Branchial arch or oral acral syndrome +0019908|Orofacial clefting syndrome +0019909|Malformation syndrome with odontal and or periodontal component +0019911|Syndromic craniosynostosis +0019912|Congenital panfollicular nevus +0019914|Idiopathic acute transverse myelitis +0019915|Perioral myoclonia with absences +0019916|Jeavons syndrome +0019917|Leukoencephalopathy with bilateral anterior temporal lobe cysts +0019918|Progressive cavitating leukoencephalopathy +0019919|Neuropathy with hearing impairment +0019920|Hereditary sensory and autonomic neuropathy with deafness and global delay +0019921|Inherited cancer predisposing syndrome +0019922|Secondary hypoparathyroidism due to impaired parathormon secretion +0019923|Autosomal dominant hereditary demyelinating motor and sensory neuropathy +0019924|Autosomal dominant hereditary axonal motor and sensory neuropathy +0019925|Autosomal recessive hereditary demyelinating motor and sensory neuropathy +0019926|Autosomal dominant distal hereditary motor neuropathy +0019927|Autosomal recessive distal hereditary motor neuropathy +0019928|Autosomal dominant hereditary sensory and autonomic neuropathy +0019929|Autosomal recessive hereditary sensory and autonomic neuropathy +0019930|Neuro ophthalmological disease +0019931|Joubert syndrome and related disorders +0019933|Low flow priapism +0019934|First branchial cleft anomaly +0019935|Third branchial cleft anomaly +0019936|Fourth branchial cleft anomaly +0019937|Cervical dermoid cyst +0019938|Facial dermoid cyst +0019939|Commissural lip fistula +0019940|Lower lip fistula +0019941|Cervicofacial fibrochondroma +0019942|Digestive duplication cyst of the tongue +0019945|Polyrrhinia +0019946|Supernumerary nostril +0019947|Proboscis lateralis +0019948|Nasopharyngeal teratoma +0019950|Nasal ganglioglioma +0019954|Glossopalatine ankylosis +0019955|Frontonasal arteriovenous malformation +0019956|Maxillary arteriovenous malformation +0019957|Mandibular arteriovenous malformation +0019959|Cerebrofacial arteriovenous metameric syndrome type 1 +0019960|Cerebrofacial arteriovenous metameric syndrome type 3 +0019961|Diffuse lymphatic malformation +0019962|Isolated congenital syngnathia +0019963|Nasal dorsum fistula +0019965|Median facial cleft +0019966|Median cleft of the upper lip and maxilla +0019967|Oblique facial cleft +0019968|Tessier number 5 facial cleft +0019969|Tessier number 6 facial cleft +0019970|Lateral facial cleft +0019972|Rare head and neck malformation +0019973|Cysts and fistulae of the face and oral cavity +0019974|Pinnae fistula or cyst +0019975|Paramedian facial cleft +0019976|Submucosal cleft palate +0019977|Coloboma of superior eyelid +0019978|Coloboma of inferior eyelid +0019979|Otomandibular dysplasia +0019981|Predominantly large vessel vasculitis +0019982|Predominantly medium vessel vasculitis +0019983|Predominantly small vessel vasculitis +0019984|Immune complex mediated vasculitis +0019985|Isolated dystonia +0019986|Renal ciliopathy +0019987|Retinal ciliopathy +0019988|Retinal ciliopathy due to mutation in the retinitis pigmentosa 1 gene +0019989|Retinal ciliopathy due to mutation in the RPGR gene +0019990|Retinal ciliopathy due to mutation in the RPGRIP gene +0019991|Retinal ciliopathy due to mutation in Usher gene +0019992|Retinal ciliopathy due to mutation in nephronophthisis gene +0019993|Retinal ciliopathy due to mutation in Bardet Biedl gene +0019994|Otomandibular dysplasia associated with monogenic syndromes +0019995|Hypoglossia aglossia +0019996|Oromandibular limb anomalies syndrome +0019997|Paralytic facial malformation +0019998|Syndrome or malformation associated with head and neck malformations +0019999|Pinnae and external auditory canal anomaly +0020000|Nose and cavum anomaly +0020001|Larynx anomaly +0020002|Tracheal anomaly +0020003|Rare syndrome with cardiac malformations +0020004|Rare genetic hepatic disease +0020005|Genetic parenchymatous liver disease +0020006|Genetic biliary tract disease +0020007|Rare genetic respiratory disease +0020008|Rare genetic urogenital disease +0020009|Genetic urogenital tract malformation +0020010|Rare genetic cause of hypertension +0020011|Rare genetic endocrine disease +0020012|Genetic endocrine growth disease +0020015|Congenital pseudoarthrosis of the limbs +0020018|Generalized eruptive histiocytosis +0020021|Papular xanthoma +0020022|Indeterminate cell histiocytosis +0020023|Progressive nodular histiocytosis +0020027|Acquired hemophagocytic lymphohistiocytosis associated with malignant disease +0020028|Genetic dementia +0020030|Rare genetic hematologic disease +0020031|Localized dystrophic epidermolysis bullosa acral form +0020032|Localized dystrophic epidermolysis bullosa nails only +0020033|Typical urticaria pigmentosa +0020034|Plaque form urticaria pigmentosa +0020035|Nodular urticaria pigmentosa +0020036|Smoldering systemic mastocytosis +0020037|Isolated bone marrow mastocytosis +0020038|Cap polyposis +0020039|Isolated congenital nasal pyriform aperture stenosis +0020040|Isolated congenital auditory ossicle malformation +0020041|Non syndromic cerebral malformation due to abnormal neuronal migration +0020043|Chronic cutaneous lupus erythematosus +0020048|Bile acid synthesis defect with cholestasis and malabsorption +0020049|Rare disorder related with pregnancy childbirth and puerperium +0020050|Cryptogenic late onset epileptic spasms +0020051|Posttransplant acute limbic encephalitis +0020052|Acrodermatitis continua of Hallopeau +0020054|X linked intellectual disability Cilliers type +0020055|Rare odontal or periodontal disorder +0020057|Acute myeloid leukemia and myelodysplastic syndromes related to radiation +0020058|Rare acquired aplastic anemia +0020059|Rare genetic gastroenterological disease +0020060|Genetic intestinal disease +0020061|Genetic gastro esophageal disease +0020062|Genetic pancreatic disease +0020063|Non syndromic urogenital tract malformation +0020064|Syndromic urogenital tract malformation +0020066|Cavitary myiasis +0020067|Diazoxide sensitive diffuse hyperinsulinism +0020068|Diazoxide resistant diffuse hyperinsulinism +0020071|Benign non familial infantile seizures +0020072|Benign partial epilepsy of infancy with complex partial seizures +0020073|Benign partial epilepsy with secondarily generalized seizures in infancy +0020074|Benign infantile seizures associated with mild gastroenteritis +0020075|Benign infantile focal epilepsy with midline spikes and waves during sleep +0020076|Benign partial infantile seizures +0020079|Orgasm induced seizures +0020080|Thinking seizures +0020081|Startle epilepsy +0020082|Micturation induced seizures +0020083|Epilepsy syndrome +0020084|Neurocutaneous syndrome with epilepsy +0020085|Chromosomal anomaly with epilepsy as a major feature +0020086|Monogenic disease with epilepsy +0020087|Idiopathic or cryptogenic familial epilepsy syndrome with identified loci genes +0020088|Cerebral malformation with epilepsy +0020090|Inflammatory and autoimmune disease with epilepsy +0020091|Cerebral diseases of vascular origin with epilepsy +0020092|Infectious disease with epilepsy +0020093|Rare hemorrhagic disorder due to an acquired coagulation factor defect +0020094|Hereditary dentin defect +0020098|Dysplasia of head of femur Meyer type +0020100|Primary peritoneal tumor +0020101|Primary malignant peritoneal tumor +0020103|Primary peritoneal carcinoma +0020105|Myeloid lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA PDGFRB FGFR1 or JAK2 +0020106|Myeloid lymphoid neoplasm associated with PDGFRA rearrangement +0020110|Malignant melanoma of the mucosa +0020114|DNA repair defect other than combined T cell and B cell immunodeficiencies +0020116|Immunodeficiency syndrome with autoimmunity +0020117|Immune dysregulation disease with immunodeficiency +0020118|Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells +0020120|Secondary central precocious puberty +0020121|Congenital vitamin K dependent coagulation factors deficiency +0020122|Rectal duplication +0020124|Idiopathic bilateral vestibulopathy +0020125|Microcephaly polymicrogyria corpus callosum agenesis syndrome +0020126|6q16 microdeletion syndrome +0020128|Intellectual disability cataracts kyphosis syndrome +0020129|Myopathy with hexagonally cross linked tubular arrays +0020130|Myeloid hemopathy +0020131|Lymphoid hemopathy +0020132|B cell non Hodgkin lymphoma +0020134|Congenital myopathy with cores +0020135|Congenital hypogonadotropic hypogonadism +0020136|Rare adult hypothyroidism +0020137|Syndromic hypothyroidism +0020138|Prader Willi syndrome due to paternal deletion of 15q11q13 type 1 +0020139|Prader Willi syndrome due to paternal deletion of 15q11q13 type 2 +0020140|Non acquired combined pituitary hormone deficiencies without extrapituitary malformations +0020141|Rare peripheral precocious puberty +0020142|Transient congenital hypothyroidism +0020145|Undifferentiated embryonal sarcoma of the liver +0020147|Osteosclerosis developmental delay craniosynostosis syndrome +0020148|Hemorrhagic disease due to alpha 1 antitrypsin Pittsburgh mutation +0020152|Adult intestinal botulism +0020156|Primary cutaneous CD4 small medium sized pleomorphic T cell lymphoma +0020157|Primary cutaneous aggressive epidermotropic CD8 T cell lymphoma +0020158|Primary cutaneous gamma delta positive T cell lymphoma +0020160|Primary cutaneous diffuse large B cell lymphoma leg type +0020161|Indolent primary cutaneous T cell lymphoma +0020162|Aggressive primary cutaneous T cell lymphoma +0020163|Aggressive primary cutaneous B cell lymphoma +0020164|Indolent primary cutaneous B cell lymphoma +0020166|Mycosis fungoides and variants +0020167|Acquired neutropenia +0020168|Primary immunodeficiency due to a defect in adaptive immunity +0020169|Obesity due to congenital leptin resistance +0020170|Uterovaginal malformation +0020171|Non syndromic uterovaginal malformation +0020172|Partial bilateral aplasia of the Mullerian ducts +0020173|Unilateral aplasia of the Mullerian ducts +0020174|True unicornuate uterus +0020175|Pseudounicornuate uterus +0020177|Bicervical bicornuate uterus and blind hemivagina +0020178|Bicervical bicornuate uterus with patent cervix and vagina +0020179|Unicervical bicornuate uterus +0020181|Complete septate uterus +0020182|Partial septate uterus +0020185|Absence of uterine body +0020186|Uterine cervical aplasia and agenesis +0020187|Syndromic uterovaginal malformation +0020188|Rare vaginal malformation +0020190|Longitudinal vaginal septum +0020191|Transverse vaginal septum +0020193|Excess breast volume or number +0020194|Deficient breast volume or number +0020196|Syndromic breast hypoplasia aplasia +0020197|Rare non malformative gynecologic or obstetric disease +0020198|Rare non malformative breast disease +0020199|Rare non malformative uterovaginal or vulvovaginal disease +0020200|Anomaly of puberty or and menstrual cycle +0020201|Rare uterine adnexal tumor +0020206|Giant adenofibroma of the breast +0020207|Rare non malformative uterine adnexal disease +0020208|Rare vulvovaginal tumor +0020209|Malformative syndrome with dentinogenesis imperfecta +0020211|Non syndromic diaphragmatic or thoracic malformation +0020212|Syndromic diaphragmatic or thoracic malformation +0020213|Rare gastroesophageal tumor +0020217|Other rare diabetes mellitus +0020218|Rare hypothalamic or pituitary disease +0020220|Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature +0020223|Syndrome with hypoparathyroidism +0020231|Rare hypolipidemia +0020232|Rare syndromic dyslipidemia +0020233|Rare disorder with hypergonadotropic hypogonadism +0020234|Aplastic anemia +0020235|Rare constitutional hemolytic anemia +0020237|Rare thrombotic disease of hematologic origin +0020238|Cerebellar malformation +0020239|Rare neuroinflammatory or neuroimmunological disease +0020241|ARX related epileptic encephalopathy +0020242|Channelopathy with epilepsy +0020243|Acquired peripheral neuropathy +0020246|Idiopathic eosinophilic pneumonia +0020247|Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease +0020248|Thoracic malformation +0020249|Respiratory malformation +0020250|Rare urogenital tumor +0020251|Non syndromic urogenital tract malformation of female +0020252|Non syndromic urogenital tract malformation of male +0020253|Non syndromic urogenital tract malformation of male and female +0020255|Rare systemic disease +0020256|Systemic autoimmune disease +0020257|Rare rheumatologic disease +0020258|Genetic urticaria +0020259|Polymalformative genetic syndrome with increased risk of developing cancer +0020260|Genetic epidermal disorder +0020262|Genetic erythrokeratoderma +0020263|Genetic acrokeratoderma +0020264|Genetic porokeratosis +0020265|Genetic epidermal appendage anomaly +0020266|Genetic hair anomaly +0020267|Genetic nail anomaly +0020268|Genetic sebaceous gland anomaly +0020269|Genetic pigmentation anomaly of the skin +0020270|Genetic hyperpigmentation of the skin +0020271|Genetic hypopigmentation of the skin +0020272|Genetic dermis disorder +0020273|Genetic skin vascular disorder +0020274|Genetic mixed dermis disorder +0020275|Genetic subcutaneous tissue disorder +0020276|Genetic skin tumor or hamartoma +0020277|Genetic photodermatosis +0020278|Genetic immune deficiency with skin involvement +0020279|Genetic neuromuscular disease +0020280|Genetic neurodegenerative disease +0020281|Genetic central nervous system and retinal vascular disease +0020282|Genetic central nervous system malformation +0020283|Rare genetic headache +0020284|Rare genetic epilepsy +0020285|Rare genetic medullar disease +0020287|Rare genetic movement disorder +0020288|Rare genetic bone disease +0020289|Genetic bone tumor +0020290|Rare genetic developmental defect during embryogenesis +0020291|Genetic multiple congenital anomalies dysmorphic syndrome +0020292|Genetic congenital limb malformation +0020293|Genetic renal or urinary tract malformation +0020294|Genetic cranial malformation +0020295|Genetic digestive tract malformation +0020296|Genetic visceral malformation of the liver biliary tract pancreas or spleen +0020297|Genetic respiratory or mediastinal malformation +0020298|Genetic developmental defect of the eye +0020299|Genetic malformation syndrome with short stature +0020300|Genetic overgrowth obesity syndrome +0020301|Genetic branchial arch or oral acral syndrome +0020302|Genetic malformation syndrome with odontal and or periodontal component +0020303|Genetic head and neck malformation +0020304|Genetic glomerular disease +0020305|Genetic thrombotic microangiopathy +0020306|Genetic renal tubular disease +0020307|Genetic renal tumor +0020308|Genetic lens and zonula anomaly +0020309|Genetic neuro ophthalmological disease +0020310|Genetic eye tumor +0020311|Genetic respiratory malformation +0020312|Rare genetic diabetes mellitus +0020313|Rare genetic hypothalamic or pituitary disease +0020314|Rare genetic thyroid disease +0020315|Rare genetic parathyroid disease and phosphocalcic metabolism disorder +0020316|Rare genetic adrenal disease +0020317|Genetic polyendocrinopathy +0020318|Rare constitutional anemia +0020319|Rare genetic coagulation disorder +0020321|Functional neutrophil defect +0020322|Genetic susceptibility to infections due to particular pathogens +0020323|Rare genetic gynecological and obstetrical diseases +0020324|Genetic gynecological tumor +0020325|Rare genetic intellectual disability +0020326|Rare genetic syndromic intellectual disability +0020327|Rare genetic immune disease +0020331|Late onset isolated ACTH deficiency +0020332|Tetragametic chimerism +0020334|Isolated autosomal dominant hypomagnesemia Glaudemans type +0020335|Congenital myopathy Paradas type +0020337|Isolated cerebellar vermis hypoplasia +0020339|Syndrome with corpus callosum agenesis dysgenesis as a major feature +0020340|Paroxysmal dystonia +0020341|Anomaly of puberty or and menstrual cycle of genetic origin +0020342|Syndromic microphthalmia anophthalmia coloboma +0020346|Cystadenoma of childhood +0020347|Malignant germ cell tumor of the vagina +0020348|Vulvovaginal rhabdomyosarcoma +0020349|Malignant non dysgerminomatous germ cell tumor of ovary +0020350|Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers +0020352|Overlap myositis +0020353|Rippling muscle disease with myasthenia gravis +0020354|Neurolymphomatosis +0020355|Subacute inflammatory demyelinating polyneuropathy +0020356|Isolated asymptomatic elevation of creatine phosphokinase +0020358|Genetic skeletal muscle disease +0020359|Acquired skeletal muscle disease +0020360|Progressive muscular dystrophy +0020361|Autosomal dominant distal myopathy +0020362|Autosomal recessive distal myopathy +0020363|Non dystrophic myopathy +0020364|Inclusion myopathy +0020366|Bulbospinal muscular atrophy of childhood +0020367|Bulbospinal muscular atrophy of adult +0020368|Generalized bulbospinal muscular atrophy +0020370|Muscular glycogenosis +0020376|Infectious fungal or parasitic myopathy +0020378|Bacterial myositis +0020381|Spinal muscular atrophy associated with central nervous system anomaly +0020382|Rare hereditary metabolic disease with peripheral neuropathy +0020383|Rare hereditary systemic disease with peripheral neuropathy +0020384|Rare hereditary neurologic disease with peripheral neuropathy +0020385|Cerebellar ataxia with peripheral neuropathy +0020386|Acute and subacute inflammatory demyelinating polyneuropathy +0020387|Malignant lymphoma with peripheral neuropathy +0020388|Qualitative or quantitative protein defects in neuromuscular diseases +0020390|Qualitative or quantitative defects of alpha sarcoglycan +0020391|Qualitative or quantitative defects of beta sarcoglycan +0020392|Qualitative or quantitative defects of gamma sarcoglycan +0020393|Qualitative or quantitative defects of delta sarcoglycan +0020394|Qualitative or quantitative defects of caveolin 3 +0020395|Qualitative or quantitative defects of collagen 6 +0020396|Laminin subunit alpha 2 related muscular dystrophy +0020397|Qualitative or quantitative defects of integrin alpha 7 +0020398|Qualitative or quantitative defects of perlecan +0020399|Qualitative or quantitative defects of calpain +0020400|Qualitative or quantitative defects of TRIM32 +0020401|Qualitative or quantitative defects of myotubularin +0020402|Qualitative or quantitative defects of protein involved in O glycosylation of alpha dystroglycan +0020403|Qualitative or quantitative defects of FKRP +0020404|Qualitative or quantitative defects of fukutin +0020405|Autosomal dominant cerebellar ataxia type II +0020406|Herpetiform pemphigus +0020407|Genetic hypoparathyroidism +0020408|Genetic hyperparathyroidism +0020409|Chronic acquired demyelinating polyneuropathy +0020410|Chronic polyradiculoneuropathy +0020411|Polyradiculoneuropathy associated with IgG IgA IgM monoclonal gammopathy without known antibodies +0020412|Acquired sensory ganglionopathy +0020413|Non paraneoplastic sensory ganglionopathy +0020414|Paraneoplastic sensory ganglionopathy +0020415|Axonal polyneuropathy associated with IgG IgM IgA monoclonal gammopathy +0020416|Systemic inflammatory disease associated with an acquired peripheral neuropathy +0020417|Peripheral neuropathy associated with monoclonal gammopathy +0020418|Acquired amyloid peripheral neuropathy +0020419|Hematological disease associated with an acquired peripheral neuropathy +0020420|Solid tumor associated with an acquired peripheral neuropathy +0020421|Qualitative or quantitative defects of protein O mannose beta1 2N acetylglucosaminyltransferase +0020422|Qualitative or quantitative defects of protein glycosyltransferase like +0020423|Qualitative or quantitative defects of protein O mannosyltransferase 1 +0020424|Qualitative or quantitative defects of protein O mannosyltransferase 2 +0020425|Qualitative or quantitative defects of myofibrillar proteins +0020426|Qualitative or quantitative defects of desmin +0020427|Qualitative or quantitative defects of alphaB cristallin +0020428|Qualitative or quantitative defects of filamin C +0020429|Qualitative or quantitative defects of protein ZASP +0020430|Qualitative or quantitative defects of titin +0020431|Qualitative or quantitative defects of telethonin +0020432|Qualitative or quantitative defects of alpha actin +0020433|Qualitative or quantitative defects of nebulin +0020434|Qualitative or quantitative defects of beta myosin heavy chain MYH7 +0020435|Qualitative or quantitative defects of emerin +0020436|Qualitative or quantitative defects of selenoprotein N1 +0020437|Qualitative or quantitative defects of plectin +0020438|Qualitative or quantitative defects of protein SERCA1 +0020439|Qualitative or quantitative defects of glucosamine UDP N acetyl 2 epimerase N acetylmannosamine kinase +0020440|Myotilinopathy +0020441|Hypercholesterolemia due to cholesterol 7alpha hydroxylase deficiency +0020442|Idiopathic uveal effusion syndrome +0020444|Solitary rectal ulcer syndrome +0020445|Benign nocturnal alternating hemiplegia of childhood +0020446|Alternating hemiplegia +0020447|Non papillary transitional cell carcinoma of the bladder +0020448|Leukonychia totalis acanthosis nigricans like lesions abnormal hair syndrome +0020449|Pulmonary fibrosis hepatic hyperplasia bone marrow hypoplasia syndrome +0020450|Congenital temporomandibular joint ankylosis +0020451|Temporomandibular joint anomaly +0020453|Infantile hemangioma of rare localization +0020454|Autosomal dominant proximal spinal muscular atrophy +0020455|Specific learning disability +0020456|Specific language disorder +0020457|Hereditary episodic ataxia +0020459|Genetic vascular anomaly +0020463|Rare lymphatic system anomaly +0020465|Complex vascular malformation with associated anomalies +0020467|Familial ovarian cancer +0020468|Hereditary site specific ovarian cancer syndrome +0020471|Rare variants of adenocarcinoma of the corpus uteri +0020472|Malignant mixed epithelial and mesenchymal tumor of corpus uteri +0020473|Adenosarcoma of the corpus uteri +0020474|Carcinofibroma of the corpus uteri +0020475|Rhabdomyosarcoma of the corpus uteri +0020478|Primitive neuroectodermal tumor of the corpus uteri +0020479|Squamous cell carcinoma of the corpus uteri +0020480|Undifferentiated carcinoma of the corpus uteri +0020481|Serous carcinoma of the corpus uteri +0020482|High grade neuroendocrine carcinoma of the corpus uteri +0020483|Low grade neuroendocrine tumor of the corpus uteri +0020484|Transitional cell carcinoma of the corpus uteri +0020485|Malignant germ cell tumor of the corpus uteri +0020489|High grade neuroendocrine carcinoma of the cervix uteri +0020490|Malignant mixed epithelial and mesenchymal tumor of cervix uteri +0020491|Carcinosarcoma of the cervix uteri +0020492|Adenosarcoma of the cervix uteri +0020493|Sarcoma of cervix uteri +0020494|Rhabdomyosarcoma of the cervix uteri +0020495|Leiomyosarcoma of the cervix uteri +0020496|Primitive neuroectodermal tumor of the cervix uteri +0020497|Papillary carcinoma of the cervix uteri +0020498|Adenoid cystic carcinoma of the cervix uteri +0020499|Adenoid basal carcinoma of the cervix uteri +0020500|Glassy cell carcinoma of the cervix uteri +0020501|Malignant germ cell tumor of the cervix uteri +0020502|Isolated congenitally uncorrected transposition of the great arteries +0020503|Congenitally uncorrected transposition of the great arteries with cardiac malformation +0020504|Niemann Pick disease type C severe perinatal form +0020505|Niemann Pick disease type C severe early infantile neurologic onset +0020506|Niemann Pick disease type C late infantile neurologic onset +0020507|Niemann Pick disease type C juvenile neurologic onset +0020508|Niemann Pick disease type C adult neurologic onset +0020509|5 fluorouracil poisoning +0020512|Pulmonary fungal infections in patients deemed at risk +0020513|NMDA receptor encephalitis +0020514|Congenital insensitivity to pain hyperhidrosis absence of C fiber innervation +0020516|Pulmonary interstitial glycogenosis +0020519|Glycogen storage disease with hypertrophic cardiomyopathy +0020520|Lysosomal disease with hypertrophic cardiomyopathy +0020521|Mitochondrial disease with hypertrophic cardiomyopathy +0020522|Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy +0020523|Syndrome associated with hypertrophic cardiomyopathy +0020524|Non familial hypertrophic cardiomyopathy +0020526|Neuromuscular disease with dilated cardiomyopathy +0020527|Mitochondrial disease with dilated cardiomyopathy +0020528|Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy +0020529|Syndrome associated with dilated cardiomyopathy +0020530|Non familial dilated cardiomyopathy +0020533|Lysosomal disease with restrictive cardiomyopathy +0020534|Unclassified cardiomyopathy +0020535|Non familial restrictive cardiomyopathy +0020536|Rare cardiac rhythm disease +0020537|Non genetic cardiac rhythm disease +0020538|Macrothrombocytopenia with mitral valve insufficiency +0020539|Isolated hereditary giant platelet disorder +0020541|Combined hyperactive dysfunction syndrome of the cranial nerves +0020543|Acquired peripheral movement disorder +0020544|Confetti like macular atrophy +0020545|Hereditary poikiloderma +0020546|Mitochondrial oxidative phosphorylation disorder +0020549|Sporadic infantile bilateral striatal necrosis +0020550|Lysosomal disease with epilepsy +0020551|Peroxisomal disease with epilepsy +0020552|Amino acid or protein metabolism disease with epilepsy +0020553|Metal transport or utilization disorder with epilepsy +0020554|Energy metabolism disorder with epilepsy +0020555|Mitochondrial disease with epilepsy +0020556|Mitochondrial disease with peripheral neuropathy +0020557|Metabolic neurotransmission anomaly with epilepsy +0020558|Sterol metabolism disorder with epilepsy +0020559|Other metabolic disease with epilepsy +0020560|Permanent congenital hypothyroidism +0020561|Primary congenital hypothyroidism +0020562|Hypothyroidism due to deficient transcription factors involved in pituitary development or function +0020563|Congenital hypothyroidism due to maternal intake of antithyroid drugs +0020564|Genetic transient congenital hypothyroidism +0020565|Multiple system atrophy cerebellar type +0020567|Autoimmune polyendocrinopathy type 4 +0020569|Hughes Stovin syndrome +0020571|Multiple sclerosis variant +0020572|Marburg acute multiple sclerosis +0020574|Genetic dermis elastic tissue disorder +0020575|Acquired dermis elastic tissue disorder +0020576|Acquired dermis elastic tissue disorder with decreased elastic tissue +0020577|Acquired dermis elastic tissue disorder with increased elastic tissue +0020578|Late onset focal dermal elastosis +0020579|Linear focal elastosis +0020580|Elastofibroma dorsi +0020582|Elastoma +0020583|Papular elastorrhexis +0020585|Familial anetoderma +0020587|White fibrous papulosis of the neck +0020588|Pseudoxanthoma elasticum like papillary dermal elastolysis +0020589|Mid dermal elastolysis +0020593|Ptosis upper ocular movement limitation absence of lacrimal punctum syndrome +0020594|Polyvalvular heart disease syndrome +0020595|5q35 microduplication syndrome +0020596|Syndromic agammaglobulinemia +0020597|Toxin mediated infectious botulism +0020598|High grade dysplasia in patients with Barrett esophagus +0020600|Beckwith Wiedemann syndrome due to imprinting defect of 11p15 +0020601|Beckwith Wiedemann syndrome due to 11p15 microdeletion +0020602|Beckwith Wiedemann syndrome due to 11p15 translocation inversion +0020603|Silver Russell syndrome due to 7p11 2p13 microduplication +0020604|Silver Russell syndrome due to an imprinting defect of 11p15 +0020605|Silver Russell syndrome due to 11p15 microduplication +0020606|Silver Russell syndrome due to maternal uniparental disomy of chromosome 11 +0020607|Beta thalassemia associated with another hemoglobin anomaly +0020608|Hemoglobin C beta thalassemia syndrome +0020610|Beta thalassemia with other manifestations +0020611|Variant of Guillain Barre syndrome +0020612|Regional variant of Guillain Barre syndrome +0020613|Functional variant of Guillain Barre syndrome +0020614|Pharyngeal cervical brachial variant of Guillain Barre syndrome +0020615|Paraparetic variant of Guillain Barre syndrome +0020616|Acute pure sensory neuropathy +0020618|Acute sensory ataxic neuropathy +0020619|Congenital erosive and vesicular dermatosis +0020620|Primary unilateral adrenal hyperplasia +0020621|Adrenocortical carcinoma with pure aldosterone hypersecretion +0020622|Ectopic aldosterone producing tumor +0020623|Rare surgically correctable form of primary aldosteronism +0020624|Rare non surgically correctable form of primary aldosteronism +0020625|Epibulbar lipodermoid preauricular appendage polythelia syndrome +0020626|Infectious embryofetopathy +0020627|Syndrome with alpha thalassemia as a major feature +0020628|Rare genetic vascular disease +0020629|Congenital vascular bone syndrome +0020631|AApoAII amyloidosis +0020632|Infundibulo neurohypophysitis +0020634|Hypotonia cystinuria type 1 syndrome +0020635|Congenital secondary polycythemia +0020637|Ileal pouch anal anastomosis related faecal incontinence +0020639|Primary megaureter adult onset form +0020640|Congenital primary megaureter obstructed form +0020641|Congenital primary megaureter refluxing form +0020642|Congenital primary megaureter nonrefluxing and unobstructed form +0020643|Isolated congenital hypogonadotropic hypogonadism +0020644|Neonatal iodine exposure +0020645|Transient congenital hypothyroidism due to maternal factor +0020646|Transient congenital hypothyroidism due to neonatal factor +0020647|Progressive supranuclear palsy pure akinesia with gait freezing syndrome +0020648|Progressive supranuclear palsy corticobasal syndrome +0020649|Progressive supranuclear palsy progressive non fluent aphasia syndrome +0020650|Syndromic obesity +0020651|De novo thrombotic microangiopathy after kidney transplantation +0020652|Biliary atresia with splenic malformation syndrome +0020653|Infantile mercury poisoning +0020654|Sporadic adult onset ataxia of unknown etiology +0020655|Non hereditary degenerative ataxia +0020656|Acquired ataxia +0020658|Autosomal recessive secondary polycythemia not associated with VHL gene +0020659|Acute neonatal citrullinemia type I +0020660|Adult onset citrullinemia type I +0020662|Prenatal benign hypophosphatasia +0020663|Inflammatory myopathy with abundant macrophages +0020664|Idiopathic eosinophilic myositis +0020665|X linked cerebellar ataxia +0020666|Autosomal recessive ataxia due to PEX10 deficiency +0020669|Constitutional deficiency anemia +0020670|Rare acquired deficiency anemia +0020672|Rare hemorrhagic disorder due to a coagulation factors defect +0020673|Rare hemorrhagic disorder due to a platelet anomaly +0020674|Isolated delta storage pool disease +0020675|Rare hemorrhagic disorder due to an acquired platelet anomaly +0020676|Rare thrombotic disorder due to a coagulation factors defect +0020677|Rare thrombotic disorder due to a constitutional coagulation factors defect +0020678|Rare thrombotic disorder due to an acquired coagulation factors defect +0020679|Rare thrombotic disorder due to a platelet anomaly +0020680|Rare thrombotic disorder due to a constitutional platelet anomaly +0020681|Rare thrombotic disorder due to an acquired platelet anomaly +0020682|Genetic polycythemia +0020683|Serpinopathy +0020684|Serpinopathy with toxic serpin polymerization +0020685|Serpinopathy with loss of serpin function +0020686|Autosomal dominant optic atrophy and peripheral neuropathy +0020688|Paternal uniparental disomy of chromosome 1 +0020689|Maternal uniparental disomy of chromosome 1 +0020690|2q31 1 microdeletion syndrome +0020691|6p22 microdeletion syndrome +0020692|7q31 microdeletion syndrome +0020693|8p11 2 deletion syndrome +0020694|Infantile onset panniculitis with uveitis and systemic granulomatosis +0020695|Idiopathic recurrent pericarditis +0020697|Drug induced vasculitis +0020698|Unclassified vasculitis +0020699|Unexplained long lasting fever inflammatory syndrome +0020701|Toxic or drug related embryofetopathy +0020702|Maternal disease related embryofetopathy +0020704|High grade astrocytoma +0020713|Glial tumor of neuroepithelial tissue with unknown origin +0020715|Chordoid glioma +0020716|Embryonal tumor of neuroepithelial tissue +0020717|Anaplastic large cell medulloblastoma +0020724|Pineal tumor of neuroepithelial tissue +0020726|Neuronal tumor +0020727|Extraventricular neurocytoma +0020728|Mixed neuronal glial tumor +0020729|Desmoplastic infantile astrocytoma ganglioglioma +0020732|Primary germ cell tumor of central nervous system +0020733|Yolk sac tumor of central nervous system +0020734|Choriocarcinoma of the central nervous system +0020735|Teratoma of the central nervous system +0020736|Mixed germ cell tumor of central nervous system +0020738|Primary melanocytic tumor of central nervous system +0020739|Diffuse leptomeningeal melanocytosis +0020742|Inherited nervous system cancer predisposing syndrome +0020744|Rare cutaneous lichen planus +0020745|Rare mucosal lichen planus +0020747|Iatrogenic botulism +0020751|Genetic hyperferritinemia without iron overload +0020752|Pyruvate metabolism disorder +0020753|Tricarboxylic acid cycle disorder +0020754|Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies +0020755|Mitochondrial oxidative phosphorylation disorder due to a large scale single deletion of mitochondrial DNA +0020756|Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA +0020757|Mitochondrial DNA related mitochondrial myopathy +0020758|Multiple mitochondrial DNA deletion syndrome +0020760|Mitochondrial oxidative phosphorylation disorder with no known mechanism +0020761|Mitochondrial membrane transport disorder +0020762|Mitochondrial substrate carrier disorder +0020763|Mitochondrial protein import disorder +0020764|Unspecified mitochondrial disorder +0020765|Exercise intolerance with lactic acidosis +0020766|Isolated oxidative phosphorylation complex disorder +0020767|Mitochondrial DNA related dystonia +0020768|Pure mitochondrial myopathy +0020770|Distal 7q11 23 microduplication syndrome +0020771|FOXG1 syndrome due to 14q12 microdeletion +0020772|16p11 2p12 2 microduplication syndrome +0020773|14q11 2 microduplication syndrome +0020774|16p13 11 microdeletion syndrome +0020775|16p13 11 microduplication syndrome +0020776|Distal 17p13 3 microdeletion syndrome +0020777|Paternal 20q13 2q13 3 microdeletion syndrome +0020778|20q13 33 microdeletion syndrome +0020779|21q22 11q22 12 microdeletion syndrome +0020780|Distal 22q11 2 microduplication syndrome +0020781|Trisomy 1q +0020782|Atypical Norrie disease due to Xp11 3 microdeletion +0020783|Maternal uniparental disomy of chromosome X +0020784|Paternal uniparental disomy of chromosome X +0020785|Ring chromosome Y syndrome +0020786|Familial adenomatous polyposis due to 5q22 2 microdeletion +0020787|Okihiro syndrome due to 20q13 microdeletion +0020788|Okihiro syndrome due to a point mutation +0020789|Partial deletion of chromosome 1 +0020790|Partial deletion of chromosome 2 +0020791|Partial deletion of chromosome 3 +0020792|Partial deletion of chromosome 4 +0020793|Partial deletion of chromosome 5 +0020794|Partial deletion of chromosome 6 +0020795|Partial deletion of chromosome 7 +0020796|Partial deletion of chromosome 8 +0020797|Partial deletion of chromosome 9 +0020798|Partial deletion of chromosome 10 +0020799|Partial deletion of chromosome 11 +0020800|Partial deletion of the long arm of chromosome 12 +0020801|Partial deletion of chromosome 16 +0020802|Partial deletion of chromosome 17 +0020803|Partial deletion of chromosome 18 +0020804|Partial deletion of chromosome 19 +0020805|Partial deletion of chromosome 20 +0020807|Partial deletion of the short arm of chromosome 2 +0020808|Partial deletion of the short arm of chromosome 4 +0020810|Partial deletion of the short arm of chromosome 6 +0020811|Partial deletion of the short arm of chromosome 7 +0020815|Partial deletion of the short arm of chromosome 11 +0020816|Partial deletion of the short arm of chromosome 16 +0020817|Partial monosomy of the short arm of chromosome 17 +0020819|Partial deletion of the short arm of chromosome 19 +0020820|Partial monosomy of the short arm of chromosome 20 +0020821|Partial deletion of the long arm of chromosome 1 +0020823|Partial deletion of the long arm of chromosome 3 +0020827|Partial deletion of the long arm of chromosome 7 +0020829|Partial monosomy of the long arm of chromosome 9 +0020831|Partial deletion of the long arm of chromosome 11 +0020833|Partial deletion of the long arm of chromosome 14 +0020834|Partial deletion of the long arm of chromosome 15 +0020835|Partial deletion of the long arm of chromosome 16 +0020836|Partial deletion of the long arm of chromosome 17 +0020838|Partial deletion of the long arm of chromosome 19 +0020839|Partial deletion of the long arm of chromosome 20 +0020840|Partial deletion of the long arm of chromosome 21 +0020841|Partial deletion of the long arm of chromosome 22 +0020842|Partial duplication of chromosome 1 +0020843|Partial duplication of chromosome 2 +0020844|Partial duplication of chromosome 3 +0020845|Partial duplication of chromosome 4 +0020846|Partial trisomy tetrasomy of chromosome 5 +0020847|Partial duplication of chromosome 6 +0020848|Partial duplication of chromosome 7 +0020849|Partial duplication of chromosome 8 +0020850|Partial trisomy tetrasomy of chromosome 9 +0020851|Partial duplication of chromosome 10 +0020852|Partial duplication of chromosome 11 +0020853|Partial trisomy tetrasomy of the short arm of chromosome 12 +0020854|Partial duplication of chromosome 16 +0020855|Partial duplication of chromosome 17 +0020856|Partial trisomy tetrasomy of chromosome 18 +0020857|Partial duplication of chromosome 19 +0020858|Partial trisomy of chromosome 20 +0020859|Partial duplication of the short arm of chromosome 2 +0020860|Partial duplication of the short arm of chromosome 3 +0020861|Partial duplication of the short arm of chromosome 4 +0020862|Partial trisomy tetrasomy of the short arm of chromosome 5 +0020863|Partial duplication of the short arm of chromosome 6 +0020864|Partial duplication of the short arm of chromosome 7 +0020865|Partial duplication of the short arm of chromosome 8 +0020866|Partial trisomy tetrasomy of the short arm of chromosome 9 +0020867|Partial duplication of the short arm of chromosome 10 +0020868|Partial duplication of the short arm of chromosome 11 +0020869|Partial duplication of the short arm of chromosome 16 +0020870|Partial duplication of the short arm of chromosome 17 +0020871|Partial trisomy tetrasomy of the short arm of chromosome 18 +0020872|Partial duplication of the long arm of chromosome 1 +0020873|Partial duplication of the long arm of chromosome 2 +0020874|Partial duplication of the long arm of chromosome 3 +0020875|Partial duplication of the long arm of chromosome 4 +0020876|Partial trisomy of the long arm of chromosome 5 +0020877|Partial duplication of the long arm of chromosome 6 +0020878|Partial duplication of the long arm of chromosome 7 +0020879|Partial duplication of the long arm of chromosome 8 +0020880|Partial trisomy of the long arm of chromosome 9 +0020881|Partial duplication of the long arm of chromosome 10 +0020882|Partial duplication of the long arm of chromosome 11 +0020883|Partial duplication of the long arm of chromosome 13 +0020884|Partial duplication of the long arm of chromosome 14 +0020885|Partial duplication of the long arm of chromosome 15 +0020886|Partial trisomy of the long arm of chromosome 16 +0020887|Partial duplication of the long arm of chromosome 17 +0020888|Partial trisomy of the long arm of chromosome 18 +0020889|Partial duplication of the long arm of chromosome 19 +0020890|Partial trisomy of the long arm of chromosome 20 +0020891|Partial duplication of the long arm of chromosome 22 +0020893|Thymoma type B +0020895|Well differentiated thymic neuroendocrine carcinoma +0020896|Moderately differentiated thymic neuroendocrine carcinoma +0020897|Poorly differentiated thymic neuroendocrine carcinoma +0020898|Postcardiotomy right ventricular failure +0020899|Infantile spasms psychomotor retardation progressive brain atrophy basal ganglia disease syndrome +0020903|Hyperinsulinism due to HNF4A deficiency +0020904|Peeling skin syndrome type C +0020905|NK cell enteropathy +0020906|Complex chromosomal rearrangement +0020907|X chromosome number anomaly +0020908|X chromosome number anomaly with female phenotype +0020909|X chromosome number anomaly with male phenotype +0020910|Polysomy of X chromosome +0020911|Partial deletion of chromosome X +0020912|Partial monosomy of the short arm of chromosome X +0020913|Y chromosome number anomaly +0020914|X and Y chromosomal anomaly +0020915|Partial deletion of the long arm of chromosome X +0020916|Partial duplication of chromosome X +0020917|Partial duplication of the long arm of chromosome X +0020918|Uniparental disomy of chromosome X +0020919|Partial duplication of the short arm of chromosome 1 +0020920|Trisomy 8p +0020921|Interstitial lung disease specific to childhood +0020922|Primary interstitial lung disease specific to childhood due to alveolar structure disorder +0020923|Primary interstitial lung disease specific to childhood due to alveolar vascular disorder +0020925|Interstitial lung disease specific to infancy +0020926|Secondary interstitial lung disease specific to childhood associated with a systemic disease +0020927|Secondary interstitial lung disease specific to childhood associated with a connective tissue disease +0020928|Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis +0020929|Secondary interstitial lung disease specific to childhood associated with a granulomatous disease +0020930|Secondary interstitial lung disease specific to childhood associated with a metabolic disease +0020931|Interstitial lung disease specific to adulthood +0020932|Primary interstitial lung disease specific to adulthood +0020933|Secondary interstitial lung disease specific to adulthood associated with a systemic disease +0020934|Interstitial lung disease in childhood and adulthood +0020935|Primary interstitial lung disease in childhood and adulthood +0020936|Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder +0020937|Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder +0020938|Secondary interstitial lung disease in childhood and adulthood +0020939|Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease +0020940|Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease +0020941|Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis +0020942|Drug or radiation exposure related interstitial lung disease +0020943|Exposure related interstitial lung disease +0020944|Genetic interstitial lung disease +0020945|Intraocular medulloepithelioma +0020946|Mycophenolate mofetil embryopathy +0020947|DYRK1A related intellectual disability syndrome due to 21q22 13q22 2 microdeletion +0020951|Spina bifida aperta +0020952|Total spina bifida aperta +0020953|Thoracolumbosacral spina bifida aperta +0020954|Lumbosacral spina bifida aperta +0020955|Cervical spina bifida aperta +0020956|Cervicothoracic spina bifida aperta +0020957|Upper thoracic spina bifida aperta +0020959|Total spina bifida cystica +0020960|Thoracolumbosacral spina bifida cystica +0020961|Lumbosacral spina bifida cystica +0020962|Cervical spina bifida cystica +0020963|Cervicothoracic spina bifida cystica +0020964|Upper thoracic spina bifida cystica +0020965|Posterior meningocele +0020966|Myelocystocele +0020971|Basal encephalocele +0020972|Lipoma associated with neurospinal dysraphism +0020973|Leptomyelolipoma +0020974|Malformation of the neurenteric canal spinal cord and column +0020976|Isolated amyelia +0020978|Midline cerebral malformation +0020980|Unilateral polymicrogyria +0020981|Unilateral focal polymicrogyria +0020983|Isolated focal cortical dysplasia type I +0020984|Isolated focal cortical dysplasia type Ia +0020985|Isolated focal cortical dysplasia type Ib +0020986|Isolated focal cortical dysplasia type Ic +0020987|Encephaloclastic disorder +0020988|Central nervous system cystic malformation +0020989|Glioependymal ependymal cyst +0020990|Isolated cerebellar vermis agenesis +0020991|Isolated total cerebellar vermis agenesis +0020992|Isolated partial cerebellar vermis agenesis +0020993|Isolated Dandy Walker malformation with hydrocephalus +0020994|Isolated Dandy Walker malformation without hydrocephalus +0020995|Isolated unilateral hemispheric cerebellar hypoplasia +0020996|Isolated bilateral hemispheric cerebellar hypoplasia +0020997|Global cerebellar malformation +0020998|Congenital communicating hydrocephalus +0020999|Syndrome with a cerebellar malformation as a major feature +0021000|Syndrome with microcephaly as a major feature +0021001|Other syndrome with a central nervous system malformation as a major feature +0021002|Syndrome with a Dandy Walker malformation as a major feature +0021003|Genetic non syndromic central nervous system malformation +0021004|Genetic cerebral malformation +0021005|Genetic posterior fossa malformation +0021006|Genetic cerebellar malformation +0021007|Genetic syndrome with a central nervous system malformation as a major feature +0021008|Genetic syndrome with a cerebellar malformation as a major feature +0021009|Genetic syndrome with a Dandy Walker malformation as a major feature +0021010|Genetic syndrome with corpus callosum agenesis dysgenesis as a major feature +0021011|Genetic soft tissue tumor +0021012|Genetic digestive tract tumor +0021013|Genetic cardiac tumor +0021014|Genetic urogenital tumor +0021015|Genetic neuroendocrine tumor +0021016|Genetic cardiac anomaly +0021017|Hereditary ATTR amyloidosis +0021018|Rare genetic systemic or rheumatologic disease +0021019|Rare hemorrhagic disorder due to a constitutional thrombocytopenia +0021020|Rare hemorrhagic disorder due to a qualitative platelet defect +0021021|Genetic infertility +0021022|Alpha thalassemia and related disorders +0021023|Beta thalassemia and related diseases +0021024|Sickle cell disease and related diseases +0021027|Pulmonary arterial hypertension associated with another disease +0021028|Pulmonary arterial hypertension associated with connective tissue disease +0021029|Pulmonary arterial hypertension associated with congenital heart disease +0021030|Pulmonary arterial hypertension associated with HIV infection +0021032|Pulmonary arterial hypertension associated with schistosomiasis +0021033|Pulmonary arterial hypertension associated with chronic hemolytic anemia +0021034|Pulmonary hypertension owing to lung disease and or hypoxia +0021035|Pulmonary hypertension with unclear multifactorial mechanism +0021036|Syndrome with pulmonary hypertension as a major feature +0021037|Hemolytic disease due to fetomaternal alloimmunization +0021038|Hemolytic disease of the newborn with Kell alloimmunization +0021039|Genetic neurodegenerative disease with dementia +0021040|Genetic frontotemporal degeneration with dementia +0021041|Bile acid CoA ligase deficiency and defective amidation +0021043|Malignant epithelial tumor of salivary glands +0021045|Idiopathic recurrent stupor +0021046|Mucopolysaccharidosis type 6 rapidly progressing +0021047|Mucopolysaccharidosis type 6 slowly progressing +0021051|Hemihyperplasia multiple lipomatosis syndrome +0021052|10q22 3q23 3 microduplication syndrome +0021054|Hyperinsulinism due to UCP2 deficiency +0021055|Diazoxide resistant hyperinsulinism +0021056|Non insulinoma pancreatogenous hypoglycemia syndrome +0021057|Symptomatic form of Coffin Lowry syndrome in female carriers +0021061|Toxic maculopathy due to antimalarial drugs +0021062|Primary oculocerebral lymphoma +0021064|Primary organ specific lymphoma +0021066|Infectious posterior uveitis +0021067|Infectious anterior uveitis +0021068|Infectious panuveitis +0021069|Paraneoplastic uveitis +0021070|Calciphylaxis cutis +0021071|Visceral calciphylaxis +0021072|Laryngotracheoesophageal cleft type 0 +0021075|Pelizaeus Merzbacher disease in female carriers +0021076|Autoimmune pancreatitis type 1 +0021077|Autoimmune pancreatitis type 2 +0021078|Distal monosomy 12p +0021079|Rare systemic or rheumatological disease of childhood +0021080|Autosomal semi dominant severe lipodystrophic laminopathy +0021081|Rare pediatric vasculitis +0021082|Rare pediatric systemic disease +0021083|Recessive intellectual disability motor dysfunction multiple joint contractures syndrome +0021084|Familial Alzheimer like prion disease +0021085|Inherited human prion disease +0021086|Familial omphalocele syndrome with facial dysmorphism +0021088|Bullous diffuse cutaneous mastocytosis +0021089|Pseudoxanthomatous diffuse cutaneous mastocytosis +0021090|Intralobar congenital pulmonary sequestration +0021091|Extralobar congenital pulmonary sequestration +0021092|Communicating congenital bronchopulmonary foregut malformation +0021093|Congenital pulmonary airway malformation type 0 +0021094|Congenital pulmonary airway malformation type 1 +0021095|Congenital pulmonary airway malformation type 2 +0021096|Congenital pulmonary airway malformation type 3 +0021097|Congenital pulmonary airway malformation type 4 +0021099|Idiopathic posterior uveitis +0021100|Idiopathic panuveitis +0021101|Systemic diseases with anterior uveitis +0021102|Systemic diseases with posterior uveitis +0021103|Systemic diseases with panuveitis +0021104|Inherited non syndromic ichthyosis +0021105|Inherited ichthyosis syndromic form +0021106|Autosomal recessive congenital ichthyosis +0021107|Keratinopathic ichthyosis +0021108|Acral self healing collodion baby +0021110|Autosomal ichthyosis syndrome +0021111|Autosomal ichthyosis syndrome with prominent hair abnormalities +0021112|Autosomal ichthyosis syndrome with prominent neurologic signs +0021113|Autosomal ichthyosis syndrome with fatal disease course +0021114|Autosomal ichthyosis syndrome with other associated signs +0021115|Partial deletion of chromosome 12 +0021117|Xp22 13p22 2 duplication syndrome +0021118|Fetal lung interstitial tumor +0021119|Familial intrahepatic cholestasis +0021120|Well differentiated fetal adenocarcinoma of the lung +0021121|Acute annular outer retinopathy +0021122|Qualitative or quantitative defects of troponin +0021123|Qualitative or quantitative defects of tropomyosin +0021125|Syndromic oculocutaneous albinism +0021127|Disorder of tyrosine metabolism +0021128|Neonatal Marfan syndrome +0021129|Marfan syndrome and Marfan related disorders +0021130|Rare disease with thoracic aortic aneurysm and aortic dissection +0021131|Disorder of folate metabolism and transport +0021132|Disorders of vitamin D metabolism +0021133|Hypocalcemic rickets +0021134|Early onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation +0021135|Infective dermatitis associated with HTLV 1 +0021136|Primary non gestational choriocarcinoma of ovary +0021137|Non central nervous system localized embryonal carcinoma +0021138|Malignancy diagnosed during pregnancy +0021139|Pyoderma gangrenosum acne suppurative hidradenitis syndrome +0021140|4H leukodystrophy +0021141|12q15q21 1 microdeletion syndrome +0021142|Microtriplication 11q24 1 +0021143|Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency +0021144|Juvenile nasopharyngeal angiofibroma +0021145|Rare virus associated tumor +0021146|Epstein Barr Virus related tumor +0021148|Epstein Barr Virus associated carcinoma +0021149|Epstein Barr Virus associated mesenchymal tumor +0021150|Epstein Barr virus positive diffuse large B cell lymphoma of the elderly +0021151|Lymphoepithelial like carcinoma +0021153|Late onset primary lymphedema without systemic or visceral involvement +0021154|Disorder of tryptophan metabolism +0021155|Disorder of lysine and hydroxylysine metabolism +0021157|Disorder of proline metabolism +0021159|Transient hyperammonemia of the newborn +0021160|Systemic disease with skin involvement +0021161|Autoinflammatory syndrome with immune deficiency +0021162|Autoinflammatory syndrome with skin involvement +0021166|Tetrahydrobiopterin responsive hyperphenylalaninemia phenylketonuria +0021167|Grayson Wilbrandt corneal dystrophy +0021169|Ketamine induced biliary dilatation +0021171|Toxic dermatosis +0021172|Constitutional dyserythropoietic anemia +0021173|1p21 3 microdeletion syndrome +0021174|Hypogonadotropic hypogonadism severe microcephaly sensorineural hearing loss dysmorphism syndrome +0021175|Syndactyly nystagmus syndrome due to 2q31 1 microduplication +0021178|Chronic intestinal failure +0021180|Intercalary limb defects +0021182|Congenital deformities of fingers +0021183|Joint formation defects +0021184|Congenital joint dislocations +0021185|Non syndromic limb overgrowth +0021186|Syndrome with limb reduction defects +0021187|Dysostosis with combined reduction defects of upper and lower limbs +0021188|Syndrome with limb duplication polydactyly syndactyly and or hyperphalangy +0021190|Amelia of upper limb +0021191|Amelia of lower limb +0021192|Humeral agenesis hypoplasia +0021193|Congenital absence of thigh and lower leg with foot present +0021195|Congenital absence of both lower leg and foot +0021196|Acheiria +0021198|Congenital hypoplasia of thumb +0021199|Hyperphalangy +0021201|Syndactyly type 6 +0021204|Congenital pseudoarthrosis of the femur +0021205|Congenital pseudoarthrosis of the fibula +0021206|Congenital pseudoarthrosis of the radius +0021207|Congenital pseudoarthrosis of the ulna +0021208|Tibio fibular synostosis +0021213|Lower limb hypertrophy +0021214|Zygodactyly type 2 +0021215|Zygodactyly type 3 +0021216|Zygodactyly type 4 +0021217|Congenital vertical talus unilateral +0021218|Congenital vertical talus bilateral +0021219|Humero ulnar synostosis unilateral +0021220|Humero ulnar synostosis bilateral +0021221|Radio ulnar synostosis unilateral +0021222|Radio ulnar synostosis bilateral +0021223|Congenital elbow dislocation unilateral +0021224|Congenital elbow dislocation bilateral +0021226|Congenital genu flexum +0021227|Macrodactyly of fingers unilateral +0021228|Macrodactyly of fingers bilateral +0021229|Macrodactyly of toes unilateral +0021230|Macrodactyly of toes bilateral +0021231|Disorder of thiamine metabolism and transport +0021232|11p15 4 microduplication syndrome +0021233|Sagliker syndrome +0021234|Onychomatricoma +0021235|Rare nail tumor +0021236|Follicular cholangitis and pancreatitis +0021238|Combined pulmonary fibrosis emphysema syndrome +0021240|Laminopathy with striated muscle involvement +0021241|Laminopathy with peripheral neuropathy +0021242|Laminopathy with lipodystrophy +0021243|Laminopathy with premature aging +0021244|Indolent B cell non Hodgkin lymphoma +0021245|Aggressive B cell non Hodgkin lymphoma +0021246|Diffuse large B cell lymphoma of the central nervous system +0021248|Splenic diffuse red pulp small B cell lymphoma +0021250|Diffuse large B cell lymphoma with chronic inflammation +0021251|ALK positive anaplastic large cell lymphoma +0021254|Primary hypomagnesemia with hypercalciuria and nephrocalcinosis +0021258|Rare intoxication due to medical products +0021259|Complication after organ transplantation +0021261|Rare parkinsonian syndrome due to neurodegenerative disease +0021262|Hemiparkinsonism hemiatrophy syndrome +0021263|Rare parkinsonian syndrome due to intoxication +0021266|Cyanide induced parkinsonism dystonia +0021267|Miscellaneous movement disorder due to neurodegenerative disease +0021268|Frontotemporal neurodegeneration with movement disorder +0021269|Rare tremor disorder +0021271|Neurodegenerative disease with chorea +0021272|Postinfectious autoimmune disease with chorea +0021273|Hemidystonia hemiatrophy syndrome +0021274|Rare myoclonus +0021275|Primary myoclonus +0021276|Rare disease with myoclonus as a major feature +0021277|Epilepsy and or ataxia with myoclonus as a major feature +0021278|Non progressive epilepsy and or ataxia with myoclonus as a major feature +0021279|Motor stereotypies +0021280|Rare paroxysmal movement disorder +0021281|Hyperekplexia +0021282|Sporadic hyperekplexia +0021283|Rare genetic parkinsonian disorder +0021284|Rare parkinsonian syndrome due to genetic neurodegenerative disease +0021285|Miscellaneous movement disorder due to genetic neurodegenerative disease +0021286|Rare genetic tremor disorder +0021287|Rare genetic myoclonus +0021288|Rare genetic disease with myoclonus as a major feature +0021291|Disease with diffuse palmoplantar keratoderma as a major feature +0021292|Autosomal dominant diffuse mutilating palmoplantar keratoderma +0021293|Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature +0021294|Focal palmoplantar keratoderma +0021295|Isolated focal palmoplantar keratoderma +0021296|Disease with focal palmoplantar keratoderma as a major feature +0021298|Marginal papular palmoplantar keratoderma +0021300|Disease with punctate palmoplantar keratoderma as a major feature +0021301|Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature +0021302|Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature +0021304|Aminoacylase deficiency +0021305|Disorder of neutral amino acid transport +0021306|Disorder of glycolysis +0021309|Glycogen storage disease due to glycogen synthase deficiency +0021312|Disorder of glyoxylate metabolism +0021313|Disorder of carbohydrate absorption and transport +0021316|Disorder of lipid absorption and transport +0021317|Disorder of fatty acid oxidation and ketogenesis +0021320|Disorder of carnitine cycle and carnitine transport +0021321|Metabolic disease due to other fatty acid oxidation disorder +0021322|Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes +0021324|Tay Sachs disease B variant infantile form +0021325|Tay Sachs disease B variant juvenile form +0021331|Sialidosis +0021333|Lysosomal glycogen storage disease +0021334|Disorder of lysosomal related organelles +0021335|Disorder of protein N glycosylation +0021336|Disorder of protein O glycosylation +0021337|Disorder of O xylosylglycan synthesis +0021338|Disorder of O N acetylgalactosaminylglycan synthesis +0021339|Disorder of O xylosyl N acetylgalactosaminylglycan synthesis +0021340|Disorder of O mannosylglycan synthesis +0021341|Disorder of fucoglycosan synthesis +0021342|Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation +0021343|Disorder of multiple glycosylation +0021344|Defect in conserved oligomeric Golgi complex +0021345|Defect in V ATPase +0021346|Disorder of porphyrin and heme metabolism +0021347|Disorder of bilirubin metabolism and excretion +0021348|Disorder of pterin metabolism +0021349|Disorder of metabolite absorption and transport +0021350|Disorder of vitamin and non protein cofactor absorption and transport +0021352|Disorder of other vitamins and cofactors metabolism and transport +0021353|Disorder of mineral absorption and transport +0021355|Disorder of iron metabolism and transport +0021357|Disorder of magnesium transport +0021358|Disorder of manganese transport +0021360|20p13 microdeletion syndrome +0021362|Epstein Barr virus associated gastric carcinoma +0021363|2q23 1 microduplication syndrome +0021364|Contractures webbed neck micrognathia hypoplastic nipples syndrome +0021365|Idiopathic linear interstitial keratitis +0021366|High bone mass osteogenesis imperfecta +0021367|7p22 1 microduplication syndrome +0021368|Marfanoid habitus inguinal hernia advanced bone age syndrome +0021369|Xq12 q13 3 duplication syndrome +0021370|Rare odontogenic tumor +0021371|Spigelian hernia cryptorchidism syndrome +0021373|Pseudo Meigs syndrome +0021374|Atypical Meigs syndrome +0021376|Ovarian fibrothecoma +0021377|Primary progressive apraxia of speech +0021378|Autosomal recessive leukoencephalopathy ischemic stroke retinitis pigmentosa syndrome +0021379|Intellectual disability hypotonia brachycephaly pyloric stenosis cryptorchidism syndrome +0021380|Growing teratoma syndrome +0021381|Duplication of the pituitary gland +0021382|Variant ABeta2M amyloidosis +0021383|Severe neonatal hypotonia seizures encephalopathy syndrome due to 5q31 3 microdeletion +0021384|Segmental progressive overgrowth syndrome with fibroadipose hyperplasia +0021385|Primary bone lymphoma +0021387|Primary localized amyloidosis +0021388|Rare disease with Cushing syndrome as a major feature +0021391|Somatomammotropinoma +0021392|Silent pituitary adenoma +0021393|Null pituitary adenoma +0021394|Autosomal dominant proximal renal tubular acidosis +0021395|Primary hypereosinophilic syndrome +0021396|Secondary hypereosinophilic syndrome +0021397|Lymphocytic hypereosinophilic syndrome +0021398|Classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency salt wasting form +0021399|Classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency simple virilizing form +0021400|Autoimmune disease with skin involvement +0021402|Autosomal dominant spastic ataxia +0021403|Autosomal recessive spastic ataxia +0021404|Partial deletion of the short arm of chromosome 12 +0021405|T B severe combined immunodeficiency +0021406|T B severe combined immunodeficiency +0021407|Diencephalic mesencephalic junction dysplasia +0021408|Chondroectodermal dysplasia with night blindness +0021409|Bilateral massive adrenal hemorrhage +0021410|Lujo hemorrhagic fever +0021415|Chapare hemorrhagic fever +0021417|Multilocular cystic renal neoplasm of low malignant potential +0021418|Mucinous tubular and spindle cell renal carcinoma +0021419|Tubulocystic renal cell carcinoma +0021420|Inherited renal cancer predisposing syndrome +0021421|Familial nonmedullary thyroid carcinoma +0021422|Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency +0021423|Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency +0021424|Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency +0021425|Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency +0021426|Primary lymphoma of the conjunctiva +0021427|Autoinflammatory syndrome of childhood +0021428|X linked pure spastic paraplegia +0021429|Pure or complex hereditary spastic paraplegia +0021430|Pure or complex autosomal dominant spastic paraplegia +0021431|Pure or complex autosomal recessive spastic paraplegia +0021432|Pure or complex X linked spastic paraplegia +0021433|MT ATP6 related mitochondrial spastic paraplegia +0021434|Genetic tumor of hematopoietic and lymphoid tissues +0021435|Multiple paragangliomas associated with polycythemia +0021436|Severe lateral tibial bowing with short stature +0021437|9p13 microdeletion syndrome +0021438|Congenital achiasma +0021439|Mixed sclerosing bone dystrophy with extra skeletal manifestations +0021440|Hereditary inclusion body myopathy type 4 +0021441|Muscular hypertrophy hepatomegaly polyhydramnios syndrome +0021442|Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation +0021443|Aphonia deafness retinal dystrophy bifid halluces intellectual disability syndrome +0021444|Hyperinsulinism due to HNF1A deficiency +0021445|Benign Samaritan congenital myopathy +0021446|Autosomal dominant intermediate Charcot Marie Tooth disease with neuropathic pain +0021447|Autosomal dominant Charcot Marie Tooth disease type 2 due to KIF5A mutation +0021448|Hendra virus infection +0021449|Invasive non typhoidal salmonellosis +0021450|Microcephalic primordial dwarfism +0021452|Non familial rare disease with dilated cardiomyopathy +0021453|Hereditary periodic fever syndrome +0021454|Pyogenic autoinflammatory syndrome +0021455|Granulomatous autoinflammatory syndrome +0021456|Mixed autoinflammatory and autoimmune syndrome +0021457|Unclassified autoinflammatory syndrome +0021458|Periodic fever syndrome of childhood +0021459|Pyogenic autoinflammatory syndrome of childhood +0021460|Granulomatous autoinflammatory syndrome of childhood +0021461|Unclassified autoinflammatory syndrome of childhood +0021462|Unexplained periodic fever syndrome of childhood +0021463|46 XX disorder of gonadal development +0021464|46 XX disorder of sex development induced by fetoplacental androgens excess +0021465|46 XX disorder of sex development induced by endogenous maternal derived androgen +0021466|46 XX disorder of sex development induced by exogenous maternal derived androgen +0021467|Syndrome with 46 XX disorder of sex development +0021468|46 XY disorder of gonadal development +0021469|46 XY ovotesticular disorder of sex development +0021470|46 XY disorder of sex development of endocrine origin +0021471|46 XY disorder of sex development due to impaired androgen production +0021472|46 XY disorder of sex development due to a cholesterol synthesis defect +0021473|Classic congenital lipoid adrenal hyperplasia due to STAR deficency +0021474|Non classic congenital lipoid adrenal hyperplasia due to STAR deficency +0021475|46 XY disorder of sex development induced by maternal exposure to endocrine disruptors +0021477|Disorder of sex development of gynecological interest +0021478|46 XY disorder of sex development of gynecological interest +0021479|Syndrome with disorder of sex development of gynecological interest +0021480|Genetic disorder of sex development of gynecological interest +0021481|Genetic disorder of sex development +0021483|Genetic 46 XY disorder of sex development +0021484|Genetic 46 XY disorder of sex development of endocrine origin +0021485|Cerebral sinovenous thrombosis +0021486|Severe early onset obesity insulin resistance syndrome due to SH2B1 deficiency +0021487|Thrombocythemia with distal limb defects +0021488|Inverse Klippel Trenaunay syndrome +0021490|Acute megakaryoblastic leukemia without Down syndrome +0021491|Spastic paraplegia Paget disease of bone syndrome +0021492|Adult onset distal myopathy due to VCP mutation +0021493|Mosaic genome wide paternal uniparental disomy +0021494|Idiopathic giant cell myocarditis +0021495|Non hypoproteinemic hypertrophic gastropathy +0021496|Juvenile idiopathic inflammatory myopathy +0021497|Juvenile overlap myositis +0021498|Transient neonatal multiple acyl CoA dehydrogenase deficiency +0021499|Intermittent hydrarthrosis +0021500|Classic neuroendocrine tumor of appendix +0021501|Wild type ATTR amyloidosis +0021504|Hypotrichosis deafness syndrome +0021505|Hemoglobin Lepore beta thalassemia syndrome +0021507|Genetic multiple congenital anomalies dysmorphic syndrome without intellectual disability +0021508|Constitutional neutropenia with extra hematopoietic manifestations +0021509|Other immunodeficiency syndromes due to defects in innate immunity +0021510|Syndrome with combined immunodeficiency +0021511|Immunodeficiency due to absence of thymus +0021512|Immunodeficiency with isotype or light chain deficiencies with normal number of B cells +0021513|Immunodeficiency with severe reduction in serum IgG and IgA with normal elevated IgM and normal number of B cells +0021514|Other immunodeficiency syndrome with predominantly antibody defects +0021515|Immunodeficiency syndrome with hypopigmentation +0021516|Disorder of phospholipids sphingolipids and fatty acids biosynthesis +0021517|Disorder of phospholipids sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement +0021518|Disorder of phospholipids sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement +0021519|Disorder of phospholipids sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement +0021520|Mitochondrial DNA maintenance syndrome +0021521|Intellectual disability obesity brain malformations facial dysmorphism syndrome +0021522|Focal epilepsy intellectual disability cerebro cerebellar malformation +0021523|16q24 1 microdeletion syndrome +0021524|Phalangeal microgeodic syndrome +0021525|Autosomal recessive cerebellar ataxia with late onset spasticity +0021526|Neurodevelopmental disorder craniofacial dysmorphism cardiac defect skeletal anomalies syndrome due to 9q21 3 microdeletion +0021527|Attenuated Chediak Higashi syndrome +0021528|Disorder of melanin metabolism +0021529|Minimal pigment oculocutaneous albinism type 1 +0021530|Congenital retinal arteriovenous communication +0021531|Idiopathic macular telangiectasia type 1 +0021532|Idiopathic macular telangiectasia type 3 +0021533|Vasoproliferative tumor of the retina +0021534|3q26q27 microdeletion syndrome +0021537|Primary essential cutis verticis gyrata +0021538|Primary non essential cutis verticis gyrata +0021540|Genetic non syndromic renal or urinary tract malformation +0021542|Ring chromosome +0021543|Genetic progeroid syndrome +0021544|Ciliopathy +0021545|Genetic syndromic Pierre Robin syndrome +0021546|Genetic intractable diarrhea of infancy +0021547|Genetic intestinal disease due to fat malabsorption +0021549|Tumor of testis and paratestis +0021550|Paratesticular adenocarcinoma +0021551|Sex cord stromal tumor of testis +0021552|Acute encephalopathy with biphasic seizures and late reduced diffusion +0021553|Acute encephalopathy with inflammation mediated status epilepticus +0021554|Gonadal germ cell tumor +0021555|LMNA related cardiocutaneous progeria syndrome +0021556|20q11 2 microduplication syndrome +0021557|2p13 2 microdeletion syndrome +0021559|Koolen De Vries syndrome due to a point mutation +0021560|Autosomal recessive cerebral atrophy +0021562|Systemic Epstein Barr virus positive T cell lymphoproliferative disease of childhood +0021563|Hydroa vacciniforme like lymphoma +0021564|ALK positive large B cell lymphoma +0021566|Bipartite talus +0021567|Primary bone dysplasia +0021568|Primary bone dysplasia with progressive ossification of skin skeletal muscle fascia tendons and ligaments +0021569|Primary bone dysplasia with micromelia +0021572|Dysostosis with limb anomaly as a major feature +0021573|Dysostosis with limb and face anomalies as a major feature +0021574|Acrofacial dysostosis +0021575|Rare bone disease related to a common gene or pathway defect +0021576|Aggrecan related bone disorder +0021577|TRPV4 related bone disorder +0021578|Primary short bowel syndrome +0021579|Intellectual disability hyperkinetic movement truncal ataxia syndrome +0021580|Obesity due to SIM1 deficiency +0021581|2p21 microdeletion syndrome without cystinuria +0021582|Homozygous 2p21 microdeletion syndrome +0021583|Intellectual disability seizures macrocephaly obesity syndrome +0021584|Finger hyperphalangy toe anomalies severe pectus excavatum syndrome +0021585|Intellectual disability facial dysmorphism hand anomalies syndrome +0021586|Spondyloepimetaphyseal dysplasia Isidor type +0021587|Spondylometaphyseal dysplasia Czarny Ratajczak type +0021588|Acute myeloid leukemia with t 8 16 p11 p13 translocation +0021589|Familial syringomyelia +0021590|Angora hair nevus +0021591|Didymosis aplasticosebacea +0021592|SCALP syndrome +0021593|NEVADA syndrome +0021595|Fetal carbamazepine syndrome +0021596|Rare disorder with dystonia and other neurologic or systemic manifestation +0021598|Medich giant platelet syndrome +0021599|XYLT1 CDG +0021600|Congenital muscular dystrophy with hyperlaxity +0021602|Primary qualitative or quantitative defects of alpha dystroglycan +0021603|Congenital disorder of glycosylation with neurological involvement +0021604|Congenital disorder of glycosylation with epilepsy as a major feature +0021605|Congenital disorder of glycosylation with hepatic involvement +0021606|Congenital disorder of glycosylation with dilated cardiomyopathy +0021607|Congenital disorder of glycosylation with cardiac malformation as a major feature +0021608|Congenital disorder of glycosylation with intestinal involvement +0021609|Congenital disorder of glycosylation related bone disorder +0021610|Congenital disorder of glycosylation with skin involvement +0021611|Congenital disorder of glycosylation with nephropathy as a major feature +0021612|Congenital disorder of glycosylation with deafness as a major feature +0021613|Genetic periodic paralysis +0021614|Genetic neurovascular malformation +0021615|Sphingolipidosis with epilepsy +0021616|Genetic syndromic esophageal malformation +0021617|Genetic hyperaldosteronism +0021618|Generalized isolated dystonia +0021619|Infantile onset mesial temporal lobe epilepsy with severe cognitive regression +0021620|Fatal post viral neurodegenerative disorder +0021621|Growth retardation mild developmental delay chronic hepatitis syndrome +0021622|Disorder of asparagine metabolism +0021623|Adult onset myasthenia gravis +0021624|Juvenile myasthenia gravis +0021627|Off periods in Parkinson disease not responding to oral treatment +0021628|Persistent combined dystonia +0021630|Rare genetic dystonia +0021632|PrP systemic amyloidosis +0021633|3q27 3 microdeletion syndrome +0021634|Periodic paralysis with later onset distal motor neuropathy +0021635|Periodic paralysis with transient compartment like syndrome +0021636|T B severe combined immunodeficiency +0021637|Ferro cerebro cutaneous syndrome +0021638|Adenocarcinoma of the penis +0021640|Refractory celiac disease +0021641|Prader Willi like syndrome +0021642|SIM1 related Prader Willi like syndrome +0021643|Secondary neonatal autoimmune disease +0021644|Neonatal antiphospholipid syndrome +0021645|Neonatal autoimmune hemolytic anemia +0021646|Neonatal dermatomyositis +0021648|Neonatal scleroderma +0021649|Persistent idiopathic facial pain +0021650|Malignant non epithelial tumor of ovary +0021651|Mucinous adenocarcinoma of ovary +0021652|Clear cell adenocarcinoma of the ovary +0021653|Primary peritoneal serous papillary carcinoma +0021654|Malignant teratoma of ovary +0021655|KLHL9 related early onset distal myopathy +0021656|Distal nebulin myopathy +0021658|Avascular necrosis +0021659|Secondary avascular necrosis +0021660|Traumatic avascular necrosis +0021661|Secondary non traumatic avascular necrosis +0021662|Rare hereditary disease with avascular necrosis +0021664|Primary avascular necrosis +0021665|Idiopathic avascular necrosis +0021666|Epiphysiolysis of the hip +0021667|Osteonecrosis of genetic origin +0021668|Avascular necrosis of genetic origin +0021669|Osteochondrosis of genetic origin +0021670|Rare male infertility due to hypothalamic pituitary gonadal axis disorder +0021671|Rare male infertility due to adrenal disorder +0021672|Rare male infertility due to testicular endocrine disorder +0021673|Male infertility due to gonadal dysgenesis or sperm disorder +0021674|Male infertility due to sperm disorder +0021675|Male infertility with spermatogenesis disorder +0021676|Male infertility due to sperm motility disorder +0021677|Rare disorder with obstructive azoospermia +0021678|Rare female infertility due to hypothalamic pituitary gonadal axis disorder +0021679|Rare female infertility due to a congenital hypogonadotropic hypogonadism +0021680|Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism +0021681|Rare female infertility due to an adrenal disorder +0021682|Rare female infertility due to an anomaly of ovarian function +0021683|Rare female infertility due to gonadal dysgenesis +0021684|Rare female infertility due to an implantation defect +0021685|Rare genetic male infertility +0021686|Rare male infertility due to hypothalamic pituitary gonadal axis disorder of genetic origin +0021687|Rare male infertility due to adrenal disorder of genetic origin +0021688|Male infertility due to obstructive azoospermia of genetic origin +0021689|Rare genetic disorder with obstructive azoospermia +0021690|Rare genetic female infertility +0021691|Rare female infertility due to hypothalamic pituitary gonadal axis disorder of genetic origin +0021692|Rare female infertility due to adrenal disorder of genetic origin +0021693|Rare female infertility due to an anomaly of ovarian function of genetic origin +0021694|Female infertility due to an implantation defect of genetic origin +0021695|Autosomal recessive spastic paraplegia type 59 +0021696|Autosomal recessive spastic paraplegia type 60 +0021697|Autosomal recessive spastic paraplegia type 66 +0021698|Autosomal recessive spastic paraplegia type 67 +0021699|Autosomal recessive spastic paraplegia type 69 +0021700|Autosomal recessive spastic paraplegia type 70 +0021701|Autosomal recessive spastic paraplegia type 71 +0021702|Huntington disease like syndrome due to C9ORF72 expansions +0021703|AXIN2 related attenuated familial adenomatous polyposis +0021705|9q31 1q31 3 microdeletion syndrome +0021706|14q24 1q24 3 microdeletion syndrome +0021707|Partial corpus callosum agenesis cerebellar vermis hypoplasia with posterior fossa cysts syndrome +0021708|Cold induced sweating syndrome hyperthermia spectrum +0021710|Acute myeloid leukemia with t 6 9 p23 q34 +0021711|Acute myeloid leukemia with t 9 11 p22 q23 +0021712|Megakaryoblastic acute myeloid leukemia with t 1 22 p13 q13 +0021713|Acute myeloid leukemia with NPM1 somatic mutations +0021714|Primary eosinophilic gastrointestinal disease +0021717|FBLN1 related developmental delay central nervous system anomaly syndactyly syndrome +0021718|Rare female infertility due to oocyte maturation defect +0021719|Autosomal recessive cerebellar ataxia epilepsy intellectual disability syndrome +0021721|Clear cell papillary renal cell carcinoma +0021722|Acquired cystic disease associated renal cell carcinoma +0021723|Spinal muscular atrophy with respiratory distress type 2 +0021724|X linked distal hereditary motor neuropathy +0021725|Dysostosis of genetic origin +0021726|Dysostosis of genetic origin with limb anomaly as a major feature +0021727|Genetic syndrome with limb reduction defects +0021728|Genetic syndrome with limb malformations as a major feature +0021730|Rare genetic bone development disorder +0021732|Angelman syndrome due to a point mutation +0021733|Angelman syndrome due to imprinting defect in 15q11 q13 +0021735|Proton pump inhibitor responsive esophageal eosinophilia +0021736|Generalized eruptive keratoacanthoma +0021737|13q12 3 microdeletion syndrome +0021738|PRKAR1B related neurodegenerative dementia with intermediate filaments +0021739|Dystonia aphonia syndrome +0021740|Genetic facial cleft +0021741|Carcinoma of esophagus salivary gland type +0021742|Undifferentiated carcinoma of esophagus +0021743|Squamous cell carcinoma of the stomach +0021744|Secondary pulmonary alveolar proteinosis +0021745|Semicircular canal dehiscence syndrome +0021747|Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency +0021748|Rare genetic odontal or periodontal disorder +0021749|Autoimmune encephalopathy with parasomnia and obstructive sleep apnea +0021750|Cono spondylar dysplasia +0021751|Microcephaly short stature intellectual disability facial dysmorphism syndrome +0021752|X linked intellectual disability limb spasticity retinal dystrophy diabetes insipidus syndrome +0021753|ARX related encephalopathy brain malformation spectrum +0021755|Double outlet right ventricle with subaortic or doubly committed ventricular septal defect +0021756|Double outlet right ventricle with atrioventricular septal defect pulmonary stenosis heterotaxy +0021758|Hereditary gastric cancer +0021759|Undifferentiated carcinoma of stomach +0021760|Rare tumor of small intestine +0021761|Mesenchymal tumor of small intestine +0021762|Microcephaly complex motor and sensory axonal neuropathy syndrome +0021764|Squamous cell carcinoma of the small intestine +0021765|Neuroendocrine tumor of the small intestine +0021766|Epithelial tumor of the appendix +0021767|Rare epithelial tumor of colon +0021768|Squamous cell carcinoma of the colon +0021769|Rare epithelial tumor of rectum +0021771|Epithelial tumor of anal canal +0021773|Adenocarcinoma of the anal canal +0021774|Squamous cell carcinoma of the anal canal +0021775|Rare epithelial tumor of pancreas +0021776|Squamous cell carcinoma of pancreas +0021780|Solid pseudopapillary carcinoma of pancreas +0021782|Osteoclastic giant cell tumor of pancreas +0021783|Congenital myopathy with myasthenic like onset +0021784|Qualitative or quantitative defects of Torsin 1A interacting protein 1 +0021785|Rare malignant epithelial tumor of liver and intrahepatic biliary tract +0021787|Adenocarcinoma of the liver and intrahepatic biliary tract +0021788|Undifferentiated carcinoma of liver and intrahepatic biliary tract +0021789|Squamous cell carcinoma of liver and intrahepatic biliary tract +0021790|Biliary cystadenocarcinoma +0021791|Adenocarcinoma of the gallbladder and extrahepatic biliary tract +0021792|Squamous cell carcinoma of gallbladder and extrahepatic biliary tract +0021793|Inherited digestive cancer predisposing syndrome +0021794|Rare epithelial tumor of small intestine +0021795|Primary immunodeficiency with predisposition to severe viral infection +0021796|Late onset scapuloperoneal muscular dystrophy with hyaline bodies +0021797|Spastic paraplegia optic atrophy neuropathy and spastic paraplegia optic atrophy neuropathy related disorder +0021798|Patent urachus +0021799|Urachal sinus +0021800|Urachal diverticulum +0021801|Pulmonary veno occlusive disease and or pulmonary capillary haemangiomatosis +0021802|Rare genetic autonomic nervous system disorder +0021804|Fetal lower urinary tract obstruction +0021805|Anterior urethral valve +0021806|Genetic precocious puberty +0021807|Precocious puberty in female +0021808|Genetic precocious puberty in female +0021809|Genetic otorhinolaryngological malformation +0021810|Genetic nose and cavum anomaly +0021811|Genetic larynx anomaly +0021812|Genetic tracheal anomaly +0021813|3p25 3 microdeletion syndrome +0021815|Autosomal dominant Charcot Marie Tooth disease type 2 due to TFG mutation +0021816|Contractures developmental delay Pierre Robin syndrome +0021817|Severe intellectual disability hypotonia strabismus coarse face planovalgus syndrome +0021818|Intrauterine growth restriction short stature early adult onset diabetes syndrome +0021819|Non progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy +0021820|Pseudoxanthoma elasticum like skin manifestations with retinitis pigmentosa +0021821|Disorder of keton body transport +0021822|Human infection by orthopoxvirus +0021824|Pediatric arterial ischemic stroke +0021825|Zinc responsive necrolytic acral erythema +0021826|Non recovering obstetric brachial plexus lesion +0021827|ALECT2 amyloidosis +0021828|AApoAIV amyloidosis +0021829|ABeta2M amyloidosis +0021830|Primary polyarteritis nodosa +0021831|Secondary polyarteritis nodosa +0021832|Single organ polyarteritis nodosa +0021834|Autosomal recessive severe congenital neutropenia +0021836|Congenital oculomotor nerve palsy +0021837|Congenital abducens nerve palsy +0021838|Autosomal dominant myopia midfacial retrusion sensorineural hearing loss rhizomelic dysplasia syndrome +0021839|Necrotizing soft tissue infection +0021840|Familial colorectal cancer Type X +0021841|Disorders of pentose polyol metabolism +0021842|Extensive peripapillary myelinated nerve fibers +0021843|Combined hamartoma of the retina and retinal pigment epithelium +0021845|Syndromic hereditary optic neuropathy +0021846|Early onset posterior subcapsular cataract +0021847|AH amyloidosis +0021848|46 XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect +0021849|Hyperinsulinemic hypoglycaemia +0021850|Hypothalamic adipsic hypernatraemia syndrome +0021851|Lymphoplasmacytic lymphoma without IgM production +0021852|NUT midline carcinoma +0021856|ACTH independent Cushing syndrome due to rare cortisol producing adrenal tumor +0021857|HIV associated cancer +0021858|11q22 2q22 3 microdeletion syndrome +0021859|20q11 2 microdeletion syndrome +0021860|Idiopathic phalangeal acro osteolysis +0021862|Caudal regression sirenomelia spectrum +0021863|Secondary vasculitis +0021864|NIK deficiency +0021865|Susceptibility to localized juvenile periodontitis +0021866|Autosomal dominant spastic paraplegia type 9B +0021867|IgG4 related sclerosing cholangitis +0021869|Secondary sclerosing cholangitis +0021870|Keratocystic odontogenic tumor +0021871|Cerebral visual impairment +0021872|Lipoyl transferase 2 deficiency +0021873|Biological anomaly without phenotypic characterization +0021874|Idiopathic dropped head syndrome +0021875|19p13 3 microduplication syndrome +0021876|Partial duplication of the short arm of chromosome 19 +0021878|Genetic primary orthostatic hypotension +0021880|Scedosporiosis +0021881|Snakebite envenomation +0021882|IgG4 related kidney disease +0021883|IgG4 related aortitis +0021884|IgG4 related submandibular gland disease +0021885|IgG4 related ophthalmic disease +0021886|Eosinophilic angiocentric fibrosis +0021887|Polyclonal hyperviscosity syndrome +0021888|Primary cutaneous plasmacytosis +0021890|Congenital insensitivity to pain with severe intellectual disability +0021892|Anti p200 pemphigoid +0021894|Variably protease sensitive prionopathy +0021896|Acute radiation syndrome +0021897|Avian influenza +0021898|1p35 2 microdeletion syndrome +0021899|Hereditary neuroendocrine tumor of small intestine +0021900|Pseudohypoparathyroidism without Albright hereditary osteodystrophy +0021901|Congenital nemaline myopathy +0021902|TAFRO syndrome +0021903|Isolated splenogonadal fusion +0021904|Infantile onset axonal motor and sensory neuropathy optic atrophy neurodegenerative syndrome +0021905|Clear cell sarcoma of kidney +0021906|Intellectual disability muscle weakness short stature facial dysmorphism syndrome +0021907|Composite hemangioendothelioma +0021908|Retiform hemangioendothelioma +0021909|Primary intralymphatic angioendothelioma +0021910|Congenital hemangioma +0021911|Partially involuting congenital hemangioma +0021912|Mixed cystic lymphatic malformation +0021913|Vascular tumor with associated anomalies +0021914|Rare capillary malformation with associated anomalies +0021915|Common cystic lymphatic malformation +0021916|Rare combined vascular malformation +0021917|Rare vascular malformation of major vessels +0021918|Corpus callosum agenesis macrocephaly hypertelorism syndrome +0021919|Immunodeficiency due to a complement cascade component deficiency +0021920|Immunodeficiency due to a complement regulatory deficiency +0021921|Rare genetic capillary malformation +0021922|Genetic complex vascular malformation with associated anomalies +0021923|Rare genetic vascular tumor +0021924|Rare genetic venous malformation +0021925|Lethal multiple congenital anomalies dysmorphic syndrome +0021926|Intellectual disability syndrome due to a DYRK1A point mutation +0021927|Verrucous hemangioma +0021928|Benign metanephric tumor +0021929|Neonatal alloimmune neutropenia +0021930|Acquired methemoglobinemia +0021931|Paracetamol poisoning +0021932|Familial gastric type 1 neuroendocrine tumor +0021933|Immune mediated acquired neuromuscular junction disease +0021934|Genetic hemoglobinopathy +0021935|Genetic otorhinolaryngologic disease +0021936|Exercise induced malignant hyperthermia +0021937|Rare disease with malignant hyperthermia +0021938|Cyanide poisoning +0021939|Scorpion envenomation +0021940|Euthyroid Graves orbitopathy +0021941|Supratip dysplasia +0021942|Childhood onset progressive contractures limb girdle weakness muscle dystrophy syndrome +0021943|SMARCA4 deficient sarcoma of thorax +0021944|Tubulinopathy associated dysgyria +0021945|Cryptogenic multifocal ulcerous stenosing enteritis +0021946|Chronic enteropathy associated with SLCO2A1 gene +0021947|Genetic lethal multiple congenital anomalies dysmorphic syndrome +0021948|Rare congenital anomaly of ventricular septum +0021949|Autosomal dominant distal axonal motor neuropathy myofibrillar myopathy syndrome +0021950|Erythrokeratodermia cardiomyopathy syndrome +0021951|Axonal hereditary motor and sensory neuropathy +0021952|Demyelinating hereditary motor and sensory neuropathy +0021953|Autosomal dominant preaxial polydactyly upperback hypertrichosis syndrome +0021954|Intermediate Charcot Marie Tooth disease +0021955|Hypercontractile muscle stiffness syndrome +0021956|Congenital generalized hypercontractile muscle stiffness syndrome +0021957|Type 1 interferonopathy +0021958|Fibroblastic rheumatism +0021959|Nodular fasciitis +0021960|Genetic cerebral small vessel disease +0021961|COL4A1 or COL4A2 related cerebral small vessel disease +0021962|COL4A1 or COL4A2 related cerebral small vessel disease with ischemic tendancy +0021963|COL4A1 or COL4A2 related cerebral small vessel disease with hemorrhagic tendancy +0021964|Moyamoya angiopathy +0021965|Rare disorder with a moyamoya angiopathy +0021966|Primary condylar hyperplasia +0021967|Syndromic constitutional thrombocytopenia +0021968|Isolated constitutional thrombocytopenia +0021969|Genetic cardiac malformation +0021970|Other genetic dermis disorder +0021971|Rare hypercholesterolemia +0021972|MYO5B related progressive familial intrahepatic cholestasis +0021973|Choledochal cyst +0021974|Primary intrahepatic lithiasis +0021975|Idiopathic ductopenia +0021976|Caroli syndrome +0021977|Idiopathic peliosis hepatis +0021978|Lethal hydranencephaly diaphragmatic hernia syndrome +0021979|Congenital portosystemic shunt +0021980|High grade B cell lymphoma with MYC and or BCL2 and or BCL6 rearrangement +0021981|Non severe combined immunodeficiency +0021982|Aneurysmal bone cyst +0021983|Isolated neonatal sclerosing cholangitis +0021984|Facial diplegia with paresthesias +0021985|Gastroenteric neuroendocrine neoplasm +0021986|Type 1 interferonopathy of childhood +0021987|Genetic alopecia +0021988|HTRA1 related cerebral small vessel disease +0021989|Rare idiopathic macular telangiectasia +0021990|X linked keloid scarring reduced joint mobility increased optic cup to disc ratio syndrome +0021991|Propylthiouracil embryofetopathy +0021992|Genetic non acquired premature ovarian failure +0021993|16p12 1p12 3 triplication syndrome +0021994|EMILIN 1 related connective tissue disease +0021995|Isolated congenital hepatic fibrosis +0021996|Congenital bile acid synthesis defect +0021997|Rare pediatric rheumatologic disease +0021998|Pediatric collagenous gastritis +0021999|Autosomal dominant Charcot Marie Tooth disease type 2 due to DGAT2 mutation +0022000|Acute macular neuroretinopathy +0022001|SIX2 related frontonasal dysplasia +0022002|Congenital amyoplasia +0022003|Extracranial carotid artery aneurysm +0022004|Idiopathic pleuroparenchymal fibroelastosis +0022005|Vulvar squamous cell carcinoma +0022006|Vulvar basal cell carcinoma +0022007|Vulvar adenocarcinoma +0022008|Rare hyperkinetic movement disorder +0022009|9q33 3q34 11 microdeletion syndrome +0022010|Congenital labioscrotal agenesis cerebellar malformation corneal dystrophy facial dysmorphism syndrome +0022011|Congenital agenesis of the scrotum +0022012|Kyphoscoliosis lateral tongue atrophy hereditary spastic paraplegia syndrome +0022013|Rare genetic hyperkinetic movement disorder +0022014|Non inflammatory vasculopathy +0022015|C12ORF65 related combined oxidative phosphorylation defect +0022016|Epidermolytic nevus +0022017|Menstrual cycle dependent periodic fever +0022018|Biliary atresia and associated disorders +0022019|Syndromic biliary atresia +0022020|Genetic inflammatory or rheumatoid like osteoarthropathy +0022021|Overgrowth or tall stature syndrome with skeletal involvement +0022022|Dysostosis with brachydactyly without extraskeletal manifestations +0022023|Dysostosis with brachydactyly with extraskeletal manifestations +0022024|Longitudinal limb defect +0022025|Terminal transverse limb defect +0022026|Non syndromic preaxial polydactyly +0022027|Non syndromic postaxial polydactyly +0022028|Non syndromic complex polydactyly +0022029|Hyaline fibromatosis syndrome +0022030|Ectrodactyly with and without other manifestations +0022031|LRP5 related primary osteoporosis +0022032|Overgrowth syndrome with 2q37 translocation +0022033|Complete hemimelia +0022034|Mirror image polydactyly +0022035|MYBPC1 related autosomal recessive non lethal arthrogryposis multiplex congenita syndrome +0022036|Congenital syphilis +0022037|Autoimmune inflammatory optic neuropathy +0022038|Chronic relapsing inflammatory optic neuropathy +0022039|Isolated optic neuritis +0022040|Recurrent idiopathic neuroretinitis +0022041|Idiopathic optic perineuritis +0022042|Pilomatrix carcinoma +0022043|Witteveen Kolk syndrome +0022044|Cochleovestibular malformation +0022045|Cochlear nerve deficiency +0022046|Squamous cell carcinoma of oral cavity and lip +0022047|Metopic ridging ptosis facial dysmorphism syndrome +0022048|4q25 proximal deletion syndrome +0022049|Erythema multiforme major +0022050|3 methylglutaconic aciduria type 8 +0022051|Ventilator induced diaphragmatic dysfunction +0022052|Neuroendocrine neoplasm of pancreas +0022053|Functioning neuroendocrine tumor of pancreas +0022054|Non functioning neuroendocrine tumor of pancreas +0022055|Serotonin producing neuroendocrine tumor of pancreas +0022056|Neuroendocrine carcinoma of pancreas +0022057|Mixed neuroendocrine and non neuroendocrine neoplasm of pancreas +0022058|Neuroendocrine neoplasm of esophagus +0022059|Rare disorder potentially indicated for transplant +0022060|Rare disorder potentially indicated for liver transplant +0022061|Rare disorder potentially indicated for kidney transplant +0022062|Rare disorder potentially indicated for bowel transplant +0022063|Rare disorder potentially indicated for hematopoietic stem cell transplant +0022064|Rare disorder potentially indicated for lung transplant +0022065|Rare disorder potentially indicated for heart transplant +0022066|Stevens Johnson syndrome toxic epidermal necrolysis overlap syndrome +0022067|Familial intestinal malrotation +0022068|Cleft lip and palate craniofacial dysmorphism congenital heart defect hearing loss syndrome +0022069|Oral facial digital syndrome with short stature and brachymesophalangy +0022070|Skeletal dysplasia T cell immunodeficiency developmental delay syndrome +0022071|Congenital progressive bone marrow failure B cell immunodeficiency skeletal dysplasia syndrome +0022072|Chronic lymphoproliferative disorder of natural killer cells +0022073|Large granular lymphocyte leukemia +0022074|Autosomal recessive epidermolytic ichthyosis +0022075|Congenital cerebellar ataxia due to RNU12 mutation +0022076|Congenital brachyesophagus intrathoracic stomach vertebral anomalies syndrome +0022077|ATP13A2 related parkinsonism +0022078|Inflammatory autoimmune disorder involving the lacrimal system +0022079|Rare disorder of the ocular adnexa +0022080|Rare disorder with ectropion +0022081|Rare disorder with entropion +0022082|Structural developmental eye defect +0022083|Syndromic lacrimal system disorder +0022084|Anterior segment developmental abnormality with extraocular manifestations +0022085|Infective keratitis +0022086|Rare conjunctivitis +0022087|Rare corneal disorder +0022088|Rare disorder of the anterior segment of the eye +0022089|Rare disorder of the pupil +0022090|Rare disorder with corneal involvement as a major feature +0022091|Rare inflammatory autoimmune corneal disorder +0022092|Syndromic ectopia lentis +0022093|Syndromic microspherophakia +0022094|Rare disorder with pigmented sclera +0022095|Rare scleral disorder +0022096|Isolated chorioretinal dystrophy +0022097|Isolated macular dystrophy +0022098|Isolated vitreoretinopathy +0022099|Isolated progressive inherited retinal disorder +0022100|Rare choroidal disorder +0022101|Rare disorder of the posterior segment of the eye +0022102|Rare macular disorder +0022103|Rare retinal disorder +0022104|Rare retinal vasculopathy +0022105|Isolated stationary inherited retinal disorder +0022106|Syndromic chorioretinal dystrophy +0022107|Syndromic macular dystrophy +0022108|Syndromic inherited retinal disorder +0022109|Syndromic vitreoretinopathy +0022110|Rare disorder involving multiple structures of the eye +0022111|Secondary early onset glaucoma +0022112|Congenital optic disc excavation +0022113|Disorder with optic nerve compression +0022114|Pseudopapilledema +0022115|Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature +0022116|Rare ophthalmic disorder with cortical involvement +0022117|Rare disorder with optic disc malformation +0022118|Rare neuromuscular disorder with ocular motility alignment anomaly +0022119|Rare ophthalmic disorder with cranial nerve involvement +0022120|Rare optic nerve disorder +0022121|Rare trochlear nerve disorder +0022122|Rare ocular motility alignment disorder +0022123|Isolated congenital entropion +0022124|Isolated blepharochalasis +0022125|Isolated iridoschisis +0022126|Isolated microspherophakia +0022127|Isolated foveal hypoplasia +0022128|Peripapillary staphyloma +0022129|Isolated megalopapilla +0022130|Optic disc pit +0022131|Thygeson superficial punctate keratitis +0022132|Mooren ulcer +0022133|Terrien marginal degeneration +0022134|Fungal keratitis +0022135|Rare disorder of the visual organs +0022136|Isolated inherited retinal disorder +0022137|Radiation induced plexopathy +0022138|Osteoradionecrosis of the mandible +0022139|Radiation induced disorder +0022140|Genetic primary orthostatic disorder +0022141|Primary orthostatic disorder +0022142|Frontonasal dysplasia bifid nose upper limb anomalies syndrome +0022143|Autosomal recessive axonal Charcot Marie Tooth disease due to copper metabolism defect +0022144|Congenital cataract severe neonatal hepatopathy global developmental delay syndrome +0022145|Microcephaly facial dysmorphism ocular anomalies multiple congenital anomalies syndrome +0022146|LAMA5 related multisystemic syndrome +0022147|Primary autoimmune enteropathy +0022148|Syndromic autoimmune enteropathy +0022149|Rare genetic disorder of the visual organs +0022150|Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature +0022151|Rare genetic ophthalmic disorder with cortical involvement +0022152|Rare genetic ophthalmic disorder with cranial nerve involvement +0022153|Rare genetic optic nerve disorder +0022154|Congenital optic disc excavation of genetic origin +0022155|Rare genetic ocular motility alignment disorder +0022156|Rare genetic disorder with strabismus +0022157|Syndromic genetic disorder with strabismus +0022158|Rare genetic neuromuscular disorder with ocular motility alignment anomaly +0022159|Rare genetic disorder of the ocular adnexa +0022160|Rare genetic palpebral disorder +0022161|Rare genetic eyelid malposition disorder +0022162|Rare genetic disorder with entropion +0022163|Rare genetic disorder of the lacrimal apparatus +0022164|Lacrimal drainage system anomaly of genetic origin +0022165|Structural developmental eye defect of genetic origin +0022166|Rare genetic disorder of the anterior segment of the eye +0022167|Anterior segment developmental anomaly of genetic origin +0022168|Rare genetic disorder with conjunctival involvement as a major feature +0022169|Rare genetic disorder with lens opacification +0022170|Syndromic genetic cataract +0022171|Lens size anomaly of genetic origin +0022172|Lens position anomaly of genetic origin +0022173|Syndromic genetic ectopia lentis +0022174|Rare genetic corneal disorder +0022175|Rare genetic disorder with corneal involvement as a major feature +0022176|Genetic corneal dystrophy +0022177|Genetic superficial corneal dystrophy +0022178|Syndromic genetic keratoconus +0022179|Rare genetic inflammatory autoimmune corneal disorder +0022180|Rare genetic disorder of the pupil +0022181|Rare genetic disorder of the posterior segment of the eye +0022182|Rare genetic retinal disorder +0022183|Rare genetic macular disorder +0022184|Rare genetic retinal vasculopathy +0022185|Rare genetic disorder involving multiple structures of the eye +0022186|Secondary early onset glaucoma of genetic origin +0022187|Rare genetic choroidal disorder +0022188|Pediatric onset glaucoma +0022189|Genetic congenital malformation of the eye with glaucoma as a major feature +0022190|Pediatric onset Graves disease +0022191|Prepubertal anorexia nervosa +0022192|Encephalopathy due to mitochondrial and peroxisomal fission defect +0022193|Diaphragmatic hernia short bowel asplenia syndrome +0022194|Hereditary angioedema with C1Inh deficiency +0022195|Hereditary angioedema with normal C1Inh +0022196|Acquired angioedema with C1Inh deficiency +0022197|Acute bilirubin encephalopathy +0022198|Chronic bilirubin encephalopathy +0022199|Letrozole toxicity +0022200|Combined hepatocellular carcinoma and cholangiocarcinoma +0022201|Secondary erythromelalgia +0022202|17q24 2 microdeletion syndrome +0022203|Immune dysregulation with inflammatory bowel disease +0022204|Immune dysregulation inflammatory bowel disease arthritis recurrent infections lymphopenia syndrome +0022205|Inflammatory bowel disease recurrent sinopulmonary infections syndrome +0022206|Dermoid or epidermoid cyst of the central nervous system +0022207|Progressive myoclonic epilepsy with neuroserpin inclusion bodies +0022208|Progressive dementia with neuroserpin inclusion bodies +0022209|PIK3CA related overgrowth syndrome +0022210|RELA fusion positive ependymoma +0022211|Lamb Shaffer syndrome +0022212|9q21 13 microdeletion syndrome +0022213|RASopathy +0022214|Spondylodysplastic Ehlers Danlos syndrome +0022215|Myopathic Ehlers Danlos syndrome +0022217|PLG related hereditary angioedema with normal C1Inh +0022218|Congenital axonal neuropathy with encephalopathy +0022219|Neurological channelopathy of the central nervous system due to a genetic chloride channel defect +0022220|Classic pyoderma gangrenosum +0022221|Pustular pyoderma gangrenosum +0022222|Bullous pyoderma gangrenosum +0022223|Vegetative pyoderma gangrenosum +0022224|Anomalous aortic origin of the left coronary artery +0022225|Anomalous aortic origin of the right coronary artery +0022226|Anomalous aortic origin of coronary artery +0022227|Anomalous origin of coronary artery from the pulmonary artery +0022228|CAR T cell therapy associated cytokine release syndrome +0022229|Quadricuspid aortic valve +0022230|Anomaly of the coronary ostia +0022231|Optic atrophy ataxia peripheral neuropathy global developmental delay syndrome +0022232|SYNGAP1 related developmental and epileptic encephalopathy +0022233|Hemolytic uremic syndrome +0022234|Infection related hemolytic uremic syndrome +0022235|Streptococcus pneumoniae associated hemolytic uremic syndrome +0022236|Congenital primary megaureter refluxing and obstructed form +0022237|Collagen related glomerular basement membrane disease +0022238|Atypical Fanconi syndrome neonatal hyperinsulinism syndrome +0022239|Fibrohistiocytic inflammatory pseudotumor of the liver +0022240|Lymphoplasmacytic inflammatory pseudotumor of the liver +0022241|Congenital tricuspid valve dysplasia +0022242|IgA pemphigus +0022243|Early onset familial hypoaldosteronism +0022244|Late onset familial hypoaldosteronism +0022245|Rare disorder due to poisoning +0022246|Early onset calcifying leukoencephalopathy skeletal dysplasia +0022247|Spastic ataxia dysarthria due to glutaminase deficiency +0022248|Rare disorder with Hirschsprung disease as a major feature +0022249|Idiopathic gastroparesis +0022250|Primary biliary cholangitis primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome +0022251|Autoimmune hepatitis type 1 +0022252|Autoimmune hepatitis type 2 +0022253|Seronegative autoimmune hepatitis +0022254|Isolated anencephaly +0022255|Isolated exencephaly +0022256|Serous cystadenoma of childhood +0022257|Mucinous cystadenoma of childhood +0022258|Seromucinous cystadenoma of childhood +0022259|Furuncular myiasis due to Dermatobia hominis +0022260|Furuncular myiasis due to Cordylobia anthropophaga +0022261|Furuncular myiasis due to Cordylobia rodhaini +0022262|Syndromic congenital sodium diarrhea +0022263|Isolated congenital aglossia +0022264|Isolated congenital hypoglossia +0022265|Genetic nephrotic syndrome +0022266|Primary hypomagnesemia refractory seizures intellectual disability syndrome +0022267|Triglyceride deposit cardiomyovasculopathy +0022268|Primary desmosis coli +0022269|Methotrexate toxicity +0022270|Laminin subunit alpha 2 related limb girdle muscular dystrophy R23 +0022271|POMGNT2 related limb girdle muscular dystrophy R24 +0022272|Calpain 3 related limb girdle muscular dystrophy D4 +0022273|CEBPE associated autoinflammation immunodeficiency neutrophil dysfunction syndrome +0022274|Congenital autosomal recessive small platelet thrombocytopenia +0022275|Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha +0022276|Acute mast cell leukemia +0022277|Chronic mast cell leukemia +0022278|Liver adenomatosis +0022279|Aprosencephaly atelencephaly spectrum +0022280|Atelencephaly +0022281|Aprosencephaly +0022282|Left sided atrial isomerism +0022283|Mueller Weiss syndrome +0022284|B cell immunodeficiency limb anomaly urogenital malformation syndrome +0022285|Idiopathic non lupus full house nephropathy +0022286|Idiopathic steroid sensitive nephrotic syndrome with secondary steroid resistance +0022287|Idiopathic multidrug resistant nephrotic syndrome +0022288|Idiopathic steroid resistant nephrotic syndrome with sensitivity to second line immunosuppressive therapy +0022289|Systemic disease with glomerulopathy as a major feature +0022290|Genetic systemic disease with glomerulopathy as a major feature +0022291|Non genetic systemic disease with glomerulopathy as a major feature +0022292|Systemic vasculitis associated with glomerulopathy +0022293|Disorder with multisystemic involvement and glomerulopathy +0022294|Nephrotic syndrome without extrarenal manifestations +0022295|Parenteral nutrition associated cholestasis +0022296|Primary lymphedema without systemic or visceral involvement +0022297|Primary lymphedema with systemic or visceral involvement +0022298|Disorder with multisystemic involvement and primary lymphedema +0022299|GJC2 related late onset primary lymphedema +0022300|Warts immunodeficiency lymphedema anogenital dysplasia syndrome +0022301|PIEZO1 related generalized lymphatic dysplasia with non immune hydrops fetalis +0022302|EPHB4 related lymphatic related hydrops fetalis +0022303|Angiomatoid fibrous histiocytoma +0022304|Microcystic stromal tumor +0022305|Multiple mitochondrial dysfunctions syndrome type 5 +0022306|CELSR1 related late onset primary lymphedema +0022307|Congenital primary lymphedema of Gordon +0022308|Bartter syndrome type 5 +0022309|Idiopathic multicentric Castleman disease +0022310|HHV 8 associated multicentric Castleman disease +0022311|Ricin poisoning +0022312|Blepharophimosis ptosis epicanthus inversus syndrome plus +0022313|Infantile onset pulmonary alveolar proteinosis hypogammaglobulinemia +0022314|DONSON related microcephaly short stature limb abnormalities spectrum +0022315|Pheochromocytoma paraganglioma +0022316|Split cord malformation type II +0022317|Split cord malformation +0022318|Predisposition to severe viral infection due to IRF7 deficiency +0022319|Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency +0022320|Cathepsin A related arteriopathy strokes leukoencephalopathy +0022321|Middle East respiratory syndrome +0022322|Complete atrioventricular septal defect without ventricular hypoplasia +0022323|Partial atrioventricular septal defect with ventricular hypoplasia +0022324|Partial atrioventricular septal defect without ventricular hypoplasia +0022325|Intermediate atrioventricular septal defect +0022326|SATB2 associated syndrome +0022327|Sporadic human prion disease +0022328|Acquired human prion disease +0022329|Iatrogenic Creutzfeldt Jakob disease +0022330|Genetic hemolytic uremic syndrome +0022331|Intraductal tubulopapillary neoplasm of pancreas +0022332|Lethal brain and heart developmental defects +0022333|Congenital infiltrating lipomatosis of the face +0022334|Serine biosynthesis pathway deficiency infantile juvenile form +0022335|Neu laxova syndrome due to phosphoserine aminotransferase deficiency +0022336|Neu laxova syndrome due to 3 phosphoglycerate dehydrogenase deficiency +0022337|Neu laxova syndrome due to 3 phosphoserine phosphatase deficiency +0022338|Isolated splenic vein thrombosis +0022339|Isolated mesenteric vein thrombosis +0022340|Acute myeloid leukemia with t 9 22 q34 1 q11 2 +0022341|B lymphoblastic leukemia lymphoma with recurrent genetic abnormality +0022342|B lymphoblastic leukemia lymphoma with t 9 22 q34 1 q11 2 +0022343|B lymphoblastic leukemia lymphoma with t v 11q23 3 +0022344|B lymphoblastic leukemia lymphoma with t 12 21 p13 2 q22 1 +0022345|B lymphoblastic leukemia lymphoma with hyperdiploidy +0022346|B lymphoblastic leukemia lymphoma with hypodiploidy +0022347|B lymphoblastic leukemia lymphoma with t 5 14 q31 1 q32 3 +0022348|B lymphoblastic leukemia lymphoma with t 1 19 q23 p13 3 +0022349|Sporadic fatal insomnia +0022350|Short stature skeletal dysplasia retinal degeneration intellectual disability sensorineural hearing loss syndrome +0022351|PUM1 associated developmental disability ataxia seizure syndrome +0022352|Spinocerebellar ataxia type 46 +0022353|Spinocerebellar ataxia type 45 +0022354|Mixed phenotype acute leukemia with t 9 22 q34 1 q11 2 +0022355|Myeloid lymphoid neoplasm associated with JAK2 rearrangement +0022356|GRIN2B related developmental delay intellectual disability and autism spectrum disorder +0022357|Mixed phenotype acute leukemia with t v 11q23 3 +0022358|Linear hypopigmentation and craniofacial asymmetry with acral ocular and brain anomalies +0022359|Dystonia 28 +0022360|Inherited gynecological cancer predisposing syndrome +0022361|Congenital onset Steinert myotonic dystrophy +0022362|Childhood onset Steinert myotonic dystrophy +0022363|Juvenile onset Steinert myotonic dystrophy +0022364|Adult onset Steinert myotonic dystrophy +0022365|Late onset Steinert myotonic dystrophy +0022366|Choanal atresia athelia hypothyroidism delayed puberty short stature syndrome +0022367|PHIP related behavioral problems intellectual disability obesity dysmorphic features syndrome +0022368|Isolated melanotic schwannoma +0022369|GNAO1 related developmental delay seizures movement disorder spectrum +0022370|TRAF7 associated heart defect digital anomalies facial dysmorphism motor and speech delay syndrome +0022371|Menke Hennekam syndrome +0022372|Neuromyelitis optica spectrum disorder with anti AQP4 antibodies +0022373|Neuromyelitis optica spectrum disorder with anti MOG antibodies +0022374|Neuromyelitis optica spectrum disorder without anti MOG and without anti AQP4 antibodies +0022375|Acute transverse myelitis with anti MOG antibodies +0022376|Isolated optic neuritis without anti MOG antibodies +0022377|Isolated optic neuritis with anti MOG antibodies +0022378|Acute disseminated encephalomyelitis with anti MOG antibodies +0022379|Acute disseminated encephalomyelitis without anti MOG antibodies +0022380|Timothy syndrome type 1 +0022381|Timothy syndrome type 2 +0022382|Atypical Timothy syndrome +0022383|Perivascular epithelioid cell neoplasm +0022384|Fibrous dysplasia McCune Albright syndrome +0022385|Adrenal hypoplasia congenita +0022386|Epidermolysis bullosa simplex without extracutaneous involvement +0022387|Epidermolysis bullosa simplex with extracutaneous involvement +0022388|Localized dystrophic epidermolysis bullosa +0022389|Antley Bixler syndrome without genital anomaly or disorder of steroidogenesis +0022390|Syndrome of reduced sensitivity to thyroid hormone +0022391|IgG4 related systemic disease +0022392|Combined immunodeficiency due to RELA haploinsufficiency +0022393|Portosinusoidal vascular disease +0022394|Incomplete septal cirrhosis +0022395|TRIM22 related inflammatory bowel disease +0022396|IRF2BPL related regressive neurodevelopmental disorder dystonia seizures syndrome +0022397|SETD2 related microcephaly severe intellectual disability multiple congenital anomalies syndrome +0022398|Blepharophimosis intellectual disability syndrome genitopatellar overlap syndrome +0022399|KAT6B related multiple congenital anomalies syndrome +0022400|ALPI related inflammatory bowel disease +0022401|Euthyroid dysprealbuminemic hyperthyroxinemia +0022402|FOXG1 syndrome due to intragenic alteration +0022403|Multisystem inflammatory syndrome in children and adults +0022404|STXBP1 related encephalopathy +0022405|Hypomyelination of early myelinating structures +0022406|Hereditary angioedema with normal C1Inh not related to F12 or PLG variant +0022407|Acquired hemophilia B +0022408|Acquired factor V deficiency +0022409|Acquired factor VII deficiency +0022410|Acquired factor X deficiency +0022411|Acquired factor XI deficiency +0022412|Acquired factor XIII deficiency +0022413|Factor V short isoforms related bleeding disorder +0022414|Factor V Amsterdam bleeding disorder +0022415|Factor V Atlanta bleeding disorder +0022416|NRXN1 related severe neurodevelopmental disorder motor stereotypies chronic constipation sleep wake cycle disturbance +0022417|CCNK related neurodevelopmental disorder severe intellectual disability facial dysmorphism syndrome +0022418|Combined deficiency of factor VII and factor X +0022419|Legionellosis +0022420|Non syndromic anorectal malformation with perineal fistula +0022421|Non syndromic anorectal malformation with rectourethral fistula +0022422|Non syndromic anorectal malformation with rectourethral fistula bulbar type +0022423|Non syndromic anorectal malformation with rectourethral fistula prostatic type +0022424|Non syndromic anorectal malformation with rectovesical fistula +0022425|Non syndromic anorectal malformation with vestibular fistula +0022426|Non syndromic cloacal malformation +0022427|Non syndromic anorectal malformation without fistula +0022428|Non syndromic anorectal malformation with anal stenosis +0022429|Non syndromic anorectal malformation with pouch colon +0022430|Non syndromic anorectal malformation with rectal atresia +0022431|Non syndromic anorectal malformation with rectal stenosis +0022432|Non syndromic anorectal malformation with rectovaginal fistula +0022433|Non syndromic anorectal malformation with H type fistula +0022434|Isolated female hypospadias +0022435|KLHL7 related Bohring Opitz like Cold induced sweating like overlap syndrome +0022436|KLHL7 related Bohring Opitz like syndrome +0022437|KLHL7 related cold induced sweating like syndrome +0022438|KLHL7 related disorder +0022439|Symptomatic form of X linked centronuclear myopathy in female carriers +0022440|Rare syndromic intellectual disability without multiple congenital anomalies dysmorphic syndrome +0022441|Genetic multiple congenital anomalies dysmorphic syndrome intellectual disability +0022443|Chronic intervillositis of unknown etiology +0022444|Rare disorder without a determined diagnosis after full investigation +0022445|Twin anemia polycythemia sequence +0022446|Twin reversed arterial perfusion sequence +0022447|Selective intrauterine growth restriction +0022448|Amniotic fluid embolism +0022449|Rare disorder related to monochorionic twin pregnancy +0022450|Rare disorder due to unbalanced inter twin blood transfusion +0022451|Rare disorder due to inadequate sharing of the placenta +0022452|Classic eosinophilic pustular folliculitis +0022453|Congenital aphakia iris hypoplasia microphthalmia microcornea syndrome +0022454|F12 associated cold autoinflammatory syndrome +0022455|Hemophilia B Leyden +0022456|Chronic neurovisceral acid sphingomyelinase deficiency +0022457|Acid sphingomyelinase deficiency +0022458|Hereditary persistence of fetal hemoglobin intellectual disability syndrome +0022459|Rare hereditary connective tissue disease +0022460|Narcolepsy +0022461|Inherited hematologic cancer predisposing syndrome +0022462|Neonatal onset severe multisystemic autoinflammatory disease with increased IL18 +0022463|SAMD9L associated autoinflammatory syndrome +0022464|Immune deficiency due to impaired neutrophil phagocytosis and migration +0022465|Early onset autoimmunity autoinflammation immunodeficiency syndrome +0022466|Familial hyperinflammatory lymphoproliferative immunodeficiency +0022467|CADINS disease +0022468|Developmental delay immunodeficiency leukoencephalopathy hypohomocysteinemia syndrome +0022469|Non syndromic unisutural craniosynostosis +0022470|Non syndromic unicoronal craniosynostosis +0022471|Non syndromic unilambdoid craniosynostosis +0022472|Non syndromic unifrontosphenoidal craniosynostosis +0022473|Non syndromic unisquamosal craniosynostosis +0022474|Non syndromic multisutural craniosynostosis +0022475|Non syndromic non specific multisutural craniosynostosis +0022476|Non syndromic bilambdoid craniosynostosis +0022477|Non syndromic unicoronal and sagittal craniosynostosis +0022478|Non syndromic metopic and sagittal craniosynostosis +0022479|Non syndromic bicoronal and metopic craniosynostosis +0022480|Non syndromic bicoronal and sagittal craniosynostosis +0022481|Non syndromic pansynostosis +0022482|Bartter syndrome type 1 +0022483|Bartter syndrome type 2 +0022484|Primary hypomagnesemia generalized seizures intellectual disability obesity syndrome +0022485|EGF related primary hypomagnesemia with intellectual disability +0022486|Gitelman like kidney tubulopathy due to mitochondrial DNA mutation +0022487|Fibrosis neurodegeneration cerebral angiomatosis syndrome +0022488|Genetic autoinflammatory syndrome with skin involvement +0022489|Rare genetic nevus +0022490|X linked severe syndromic thoracic aortic aneurysm and dissection +0022491|SBDS related severe neonatal spondylometaphyseal dysplasia +0022492|Autoimmune limbic encephalitis +0022493|Paraneoplastic cerebellar degeneration +0022494|Immune mediated cerebellar ataxia +0022495|MIR140 related spondyloepiphyseal dysplasia +0022496|Body integrity dysphoria +0022497|Non specific autoimmune supratentorial encephalitis with characteristic antibodies +0022498|Non specific autoimmune supratentorial encephalitis without characteristic antibodies +0022499|Paraneoplastic isolated brainstem encephalitis +0022500|Non specific autoimmune brainstem encephalitis with characteristic antibodies +0022501|Non specific autoimmune brainstem encephalitis without characteristic antibodies +0022502|Postinfectious cerebellitis +0022503|Non specific autoimmune cerebellar ataxia with characteristic antibodies +0022504|Non specific autoimmune cerebellar ataxia without characteristic antibodies +0022505|Rare teratologic disease +0022506|Rare hepatic disease +0022507|Rare maxillo facial surgical disease +0022509|Rare infectious disease +0022510|Rare skin disease +0022511|Rare bone disease +0022512|Rare renal disease +0022513|Rare developmental defect during embryogenesis +0022514|Rare gynecologic or obstetric disease +0022515|Rare cardiac disease +0022516|Rare gastroenterologic disease +0022517|Rare respiratory disease +0022518|Rare surgical thoracic disease +0022519|Rare surgical cardiac disease +0022520|Rare ophthalmic disorder +0022521|Rare endocrine disease +0022522|Rare hematologic disease +0022523|Rare immune disease +0022524|Rare neurologic disease +0022525|Rare systemic or rheumatologic disease +0022526|Rare odontologic disease +0022527|Rare circulatory system disease +0022528|Rare otorhinolaryngologic disease +0022529|Rare infertility +0022530|Rare allergic disease +0022531|Rare genetic disease +0022532|Rare urogenital disease +0022533|Rare disorder due to toxic effects +0022534|Rare abdominal surgical disease +0022535|Rare neoplastic disease +0022536|Rare disorder potentially indicated for transplant or complication after transplantation +0030000|Rare to be classified GARD Diseases diff --git a/RDAS.GARD/src/metamap_gard_out.json b/RDAS.GARD/src/metamap_gard_out.json new file mode 100644 index 0000000..d0762c1 --- /dev/null +++ b/RDAS.GARD/src/metamap_gard_out.json @@ -0,0 +1 @@ +{"AllDocuments": [{"Document": {"CmdLine": {"Command": "metamap -L 2022AB -Z 2022AB --lexicon db -J acab,anab,comd,cgab,dsyn,fndg,emod,inpo,mobd,neop,patf,sosy --JSONn -E /tmp/text_000N_67512 /tmp/text_000N.out_67512", "Options": [{"OptName": "lexicon_year", "OptValue": "2022AB"}, {"OptName": "mm_data_year", "OptValue": "2022AB"}, {"OptName": "lexicon", "OptValue": "db"}, {"OptName": "restrict_to_sts", "OptValue": ["acab", "anab", "comd", "cgab", "dsyn", "fndg", "emod", "inpo", "mobd", "neop", "patf", "sosy"]}, {"OptName": "JSONn"}, {"OptName": "indicate_citation_end"}, {"OptName": "infile", "OptValue": "/tmp/text_000N_67512"}, 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grant/GardNameExtractor/GardNamePreprocessor.py rename to RDAS.GFKG/GardNameExtractor/GardNamePreprocessor.py diff --git a/grant/annotate_text.py b/RDAS.GFKG/annotate_text.py similarity index 100% rename from grant/annotate_text.py rename to RDAS.GFKG/annotate_text.py diff --git a/grant/generate.py b/RDAS.GFKG/generate.py similarity index 100% rename from grant/generate.py rename to RDAS.GFKG/generate.py diff --git a/grant/grant.conf b/RDAS.GFKG/grant.conf similarity index 100% rename from grant/grant.conf rename to RDAS.GFKG/grant.conf diff --git a/RDAS.GFKG/init.py b/RDAS.GFKG/init.py new file mode 100644 index 0000000..4694e8a --- /dev/null +++ b/RDAS.GFKG/init.py @@ -0,0 +1,17 @@ +import os +import sys +workspace = os.path.dirname(os.path.abspath(__file__)) +sys.path.append(workspace) +from datetime import datetime, date +from AlertCypher import AlertCypher +import sysvars +import grant.methods as rdas +from time import sleep + +def main(restart_raw=False, restart_processed=False): + print(f"[CT] Database Selected: {sysvars.gnt_db}\nContinuing with script in 5 seconds...") + print(f"Variables initialized: restart_raw -> {restart_raw}, restart_processed -> {restart_processed}") + sleep(5) + + db = AlertCypher(sysvars.gnt_db) + rdas.start(db, restart_raw=restart_raw, restart_processed=restart_processed) \ No newline at end of file diff --git a/grant/methods.py b/RDAS.GFKG/methods.py similarity index 92% rename from grant/methods.py rename to RDAS.GFKG/methods.py index e0addaf..c828564 100644 --- a/grant/methods.py +++ b/RDAS.GFKG/methods.py @@ -24,17 +24,18 @@ from sentence_transformers import SentenceTransformer, util from transformers import AutoTokenizer, AutoModel import torch +import glob -def start(db): - update_grant.main(db) +def start(db, restart_raw=False, restart_processed=False): + update_grant.main(db, restart_raw=restart_raw, restart_processed=restart_processed) -def download_nih_data(clear_previous=False): +def download_nih_data(restart_raw=False): current_year = int(datetime.today().year) print('Downloading NIH Exporter files') # Clinical Studies - if clear_previous: + if restart_raw: os.remove(f'{sysvars.gnt_files_path}raw/clinical_studies/clinical_studies.csv') if not os.path.exists(f'{sysvars.gnt_files_path}raw/clinical_studies/clinical_studies.csv'): command = f'curl -L -X GET https://reporter.nih.gov/exporter/clinicalstudies/download -o {sysvars.gnt_files_path}raw/clinical_studies/clinical_studies.csv' @@ -43,7 +44,7 @@ def download_nih_data(clear_previous=False): print('Clinical Studies file already downloaded... bypassing') # Patents - if clear_previous: + if restart_raw: os.remove(f'{sysvars.gnt_files_path}raw/patents/patents.csv') if not os.path.exists(f'{sysvars.gnt_files_path}raw/patents/patents.csv'): command = f'curl -L -X GET https://reporter.nih.gov/exporter/patents/download -o {sysvars.gnt_files_path}raw/patents/patents.csv' @@ -58,14 +59,14 @@ def download_nih_data(clear_previous=False): else: file_dir = type - if clear_previous: + if restart_raw: cur_path_files = os.listdir(f'{sysvars.gnt_files_path}raw/{file_dir}/') for item in cur_path_files: if item.endswith(".csv"): os.remove(os.path.join(f'{sysvars.gnt_files_path}raw/{file_dir}/', item)) if len(os.listdir(f'{sysvars.gnt_files_path}raw/{file_dir}/')) == 1: - for i in range(1985,current_year): + for i in range(1985,current_year+1): command = f'curl -L -X GET https://reporter.nih.gov/exporter/{type}/download/{i} -o {sysvars.base_path}grant/src/raw/{file_dir}/{type}{i}.zip' os.system(command) command = f'unzip {sysvars.gnt_files_path}raw/{file_dir}/{type}{i}.zip -d {sysvars.base_path}grant/src/raw/{file_dir}' @@ -116,6 +117,15 @@ def get_project_data (appl_id): print(f"Error: {response.status_code}, {response.text}") return +def clear_processed_files (restart_processed=False): + if restart_processed: + files = glob.glob(f'{sysvars.gnt_files_path}processed/**/*.csv', recursive=True) + for f in files: + print(f) + os.remove(f) + + print('All files in processed folder removed') + def update_dictionary(dictionary): updated_dict = {} for key, value in dictionary.items(): @@ -222,11 +232,11 @@ def extract_words_from_json_string2(input_string): def GardNamePreprocessor(Gard): Gard['GardName'] = Gard['GardName'].apply(lambda x: str(x).replace('"', '').lower()) Gard['Synonyms'] = Gard['Synonyms'].apply(lambda x: extract_words_from_json_string(str(x).lower())) - #Gard= remove_similar_strings(Gard) + Gard = remove_similar_strings(Gard) Gard['Synonyms'] = Gard['Synonyms'].apply(lambda x: extract_words_from_json_string(str(x))) Gard['Synonyms'] =Gard['GardName'].apply(lambda x: [x])+Gard['Synonyms'] #Gard['Synonyms_bow']=Gard['Synonyms'].apply(lambda x: generate_term_orders_list_of_sords(x) ) - Gard['Synonyms_sw'] = Gard['Synonyms'].apply(lambda x: process_row_list(x)) + Gard['Synonyms_sw'] = Gard['Synonyms'].apply(lambda x: process_row_list(x)) #.apply(lambda x: process_row_list(x)) Gard['Synonyms_sw_bow']=Gard['Synonyms_sw'].apply(lambda x: generate_term_orders_list_of_sords(x) ) Gard['Synonyms_sw_bow']=Gard['Synonyms_sw_bow'].apply(lambda x: list(set(len_chcek(x))) ) #Gard['Synonyms_sw_nltk'] = Gard['Synonyms_sw'].apply(lambda x: process_row_list_2(x)) @@ -236,30 +246,53 @@ def GardNamePreprocessor(Gard): #Gard['Synonyms_stem_bow']=Gard['Synonyms_stem'].apply(lambda x: generate_term_orders_list_of_sords(x) ) Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw'].apply(lambda x: stem_text_list(x)) Gard['Synonyms_sw_stem_bow']=Gard['Synonyms_sw_stem'].apply(lambda x: generate_term_orders_list_of_sords(x) ) - Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw'].apply(lambda x:list(set(len_chcek(x))) ) + Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw_stem'].apply(lambda x:list(set(len_chcek(x))) ) Gard['Synonyms_sw_stem_bow']=Gard['Synonyms_sw_stem_bow'].apply(lambda x: list(set(len_chcek(x))) ) - Gard['Synonyms_sw'] = Gard['Synonyms_sw'].apply(lambda x: list(set(len_chcek(x))) ) + Gard['Synonyms_sw'] = Gard['Synonyms_sw_stem'].apply(lambda x: list(set(len_chcek(x))) ) + + Excluding_list = ['GARD:{:07d}'.format(int(gard_id.split(':')[1])) for gard_id in sysvars.gard_preprocessor_exclude] + Gard['GardId'] = Gard['GardId'].str.strip('"') + Gard = Gard[~Gard['GardId'].isin(Excluding_list)] + return Gard def download_gard_data_from_db (): db = AlertCypher(sysvars.gard_db) - response = db.run('MATCH (x:GARD) RETURN x.GardId as GardId, x.GardName as GardName, x.Synonyms as Synonyms').data() + in_progress = db.getConf('UPDATE_PROGRESS', 'grant_in_progress') + + if not in_progress == 'True': + return None + + if not os.path.exists(f'{sysvars.base_path}grant/src/processed/all_gards_processed.csv'): + response = db.run('MATCH (x:GARD) RETURN x.GardId as GardId, x.GardName as GardName, x.Synonyms as Synonyms').data() - myFile = open(f'{sysvars.base_path}grant/src/raw/all_gards.csv', 'w') - writer = csv.writer(myFile) - writer.writerow(['GardId', 'GardName', 'Synonyms']) - for dictionary in response: - writer.writerow(dictionary.values()) - myFile.close() - df = pd.read_csv(f'{sysvars.base_path}grant/src/raw/all_gards.csv') + myFile = open(f'{sysvars.base_path}grant/src/raw/all_gards.csv', 'w') + writer = csv.writer(myFile) + writer.writerow(['GardId', 'GardName', 'Synonyms']) + for dictionary in response: + writer.writerow(dictionary.values()) + myFile.close() + df = pd.read_csv(f'{sysvars.base_path}grant/src/raw/all_gards.csv') - df = GardNamePreprocessor(df) - df.to_csv(f'{sysvars.base_path}grant/src/processed/all_gards_processed.csv') + df = GardNamePreprocessor(df) + df.to_csv(f'{sysvars.base_path}grant/src/processed/all_gards_processed.csv') + + else: + df = pd.read_csv(f'{sysvars.base_path}grant/src/processed/all_gards_processed.csv') + df['Synonyms_sw'] = df['Synonyms_sw'].apply(lambda x: extract_words_from_json_string2(str(x).lower())) + df['Synonyms_sw_bow'] = df['Synonyms_sw_bow'].apply(lambda x: extract_words_from_json_string2(str(x).lower())) + df['Synonyms_sw_stem'] = df['Synonyms_sw_stem'].apply(lambda x: extract_words_from_json_string2(str(x).lower())) + df['Synonyms_sw_stem_bow'] = df['Synonyms_sw_stem_bow'].apply(lambda x: extract_words_from_json_string2(str(x).lower())) return df # Global Objects for Processing + +Gard = download_gard_data_from_db() + +''' if not os.path.exists(f'{sysvars.base_path}grant/src/processed/all_gards_processed.csv'): + pass Gard = download_gard_data_from_db() else: Gard = pd.read_csv(f'{sysvars.base_path}grant/src/processed/all_gards_processed.csv') @@ -267,10 +300,9 @@ def download_gard_data_from_db (): Gard['Synonyms_sw_bow'] = Gard['Synonyms_sw_bow'].apply(lambda x: extract_words_from_json_string2(str(x).lower())) Gard['Synonyms_sw_stem'] = Gard['Synonyms_sw_stem'].apply(lambda x: extract_words_from_json_string2(str(x).lower())) Gard['Synonyms_sw_stem_bow'] = Gard['Synonyms_sw_stem_bow'].apply(lambda x: extract_words_from_json_string2(str(x).lower())) - - nlp = spacy.load("en_core_web_sm") +''' def is_about_term(input_text, target_term): # Load ClinicalBERT model and tokenizer @@ -530,7 +562,7 @@ def combine_dictionaries_sent(dict1, dict2): combined_dict[key] = value return combined_dict -def modified_dict(combined_dict,combined_dict_sen): +def modified_dict(combined_dict,combined_dict_sen): keys_to_remove = set() for key1 in combined_dict: for key2 in combined_dict: @@ -580,19 +612,19 @@ def normalize_combined_dictionary(input_text,dict1, dict2, dict3, dict4,min_, ma normalized_dict = {key: min_ + (max_ - min_) * (value / total_frequency) for key, value in combined_dict.items()} result_dict = {} for key, value in normalized_dict.items(): - if is_about_term(input_text.lower(), key) >=0.7: + #if is_about_term(input_text.lower(), key) >=0.7: result_dict[key] = [value, is_about_term(input_text.lower(), key)] return result_dict -def gard_id(title_, Public_health_relevance_statement, abstract_): +def gard_id(title_, Public_health_relevance_statement, abstract_, nlp): if not isinstance(title_, str) and not isinstance(Public_health_relevance_statement, str) and not isinstance(abstract_, str): return '' # Return default values when no string input is provided if title_ and isinstance(title_, str): name = get_gard_title_stem_exact(title_) if name: return name if Public_health_relevance_statement and isinstance(Public_health_relevance_statement, str): - A, B, C,D = check_sen(Public_health_relevance_statement) + A, B, C,D = check_sen(Public_health_relevance_statement, nlp) name1 = get_gard_abstract_stem_exact(A) name2 = get_gard_abstract_stem_exact(B) name3 = get_gard_abstract_stem_exact(C) @@ -600,7 +632,7 @@ def gard_id(title_, Public_health_relevance_statement, abstract_): name=normalize_combined_dictionary(Public_health_relevance_statement,name1,name2,name3,name4,0.7,0.9) if name and (name !={}): return name if abstract_ and isinstance(abstract_, str): - A, B, C , D = check_sen(abstract_) + A, B, C , D = check_sen(abstract_, nlp) name1 = get_gard_abstract_stem_exact(A) name2 = get_gard_abstract_stem_exact(B) name3 = get_gard_abstract_stem_exact(C) @@ -608,9 +640,9 @@ def gard_id(title_, Public_health_relevance_statement, abstract_): name=normalize_combined_dictionary(abstract_,name1,name2,name3,name4,0,0.7) if name and (name !={}): return name -def GardNameExtractor(project_title,phr_text,abstract_text): +def GardNameExtractor(project_title,phr_text,abstract_text, nlp): #Abstract1['Gard_name']=Abstract1.apply(lambda x: gard_id(x['project_title'],x['phr_text'],x['abstract_text']), axis=1) - gard_ids = gard_id(project_title,phr_text,abstract_text) + gard_ids = gard_id(project_title,phr_text,abstract_text, nlp) if gard_ids: return update_dictionary(gard_ids) else: diff --git a/grant/prep_neo4j_data.py b/RDAS.GFKG/prep_neo4j_data.py similarity index 84% rename from grant/prep_neo4j_data.py rename to RDAS.GFKG/prep_neo4j_data.py index 2c37a19..c2febeb 100644 --- a/grant/prep_neo4j_data.py +++ b/RDAS.GFKG/prep_neo4j_data.py @@ -28,7 +28,7 @@ import grant.methods as rdas import threading -ENCODING = "latin1" +ENCODING = "latin-1" #latin-1 raw_path = "" neo4j_path = "" years_to_annotate = set() @@ -64,13 +64,15 @@ def data_neo4j(subpath: str): def years_to_files(subdir: str): all_files = glob.glob(data_neo4j(subdir) + "/*.csv") + all_files = sorted(all_files) #return [f for f in all_files if f[-8:-4] in years_to_annotate] return [f for f in all_files] def aggregate_disease_data(): # Rename GARD-Project mapping results columns to match the names listed in the GARD data - normmap_df = pd.read_csv(data_raw('normmap_results.csv'),index_col=False,usecols=['ID','GARD_id','CONF_SCORE','SEM_SIM']) + normmap_df = pd.read_csv(data_neo4j('normmap_results.csv'),index_col=False,usecols=['ID','GARD_id','CONF_SCORE','SEM_SIM']) + normmap_df = normmap_df.rename(columns={'ID':'APPLICATION_ID', 'GARD_id': 'GARD_ID'}) disease_df = pd.read_json(data_raw('all_gards.json')) disease_df = disease_df.rename(columns={'GARD id':'GARD_ID', 'Name':'NAME', 'Synonyms':'SYNONYMS'}) @@ -79,77 +81,154 @@ def aggregate_disease_data(): merged_df = pd.merge(normmap_df, disease_df, on=['GARD_ID']) merged_df.to_csv(data_neo4j('disease/disease_to_application.csv'),index=False) -def combine_projects(): +def combine_normmap_results(): combine_df = pd.DataFrame() - # Appends each abstract CSV to the last CSV for all abstracts CSVs in folder - for filename in os.listdir(data_raw('abstracts')): - tmp = pd.read_csv(data_raw('abstracts/{filename}'.format(filename=filename)),index_col=False, encoding = "ISO-8859-1") + files = glob.glob(data_neo4j('normmap') + '/*.csv') + files = sorted(files) + + for filename in files: + print(f'Combining abstract file {filename} into the last') + tmp = pd.read_csv(('{filename}'.format(filename=filename)),index_col=False, encoding = "ISO-8859-1") combine_df = pd.concat([combine_df,tmp], axis=0) - combine_df.to_csv(raw_path + '/RePORTER_PRJABS_C_FY_ALL.csv') + combine_df['APPLICATION_ID'] = combine_df['ID'].astype(int) + + combine_df.to_csv(data_neo4j('normmap_results.csv'), index=False) lock = threading.Lock() -def batch_normmap(df): +def batch_normmap(df, thr, year, nlp): r,c = df.shape for idx in range(r): - row = df.iloc[idx] - appl_id = row['APPLICATION_ID'] - abstract = row['ABSTRACT_TEXT'] + try: + with lock: + print(f'{idx}/{r} [{thr}]') + + row = df.iloc[idx] + appl_id = row['APPLICATION_ID'] + abstract = row['ABSTRACT_TEXT'] + phr = row['PHR'] + title = row['PROJECT_TITLE'] + + gard_ids = rdas.GardNameExtractor(title, phr, abstract, nlp) + if gard_ids: + for gard,add_data in gard_ids.items(): + if add_data == 1: + add_data = [1,1] + + with lock: + print({'ID': appl_id, 'GARD_id': gard, 'CONF_SCORE': add_data[0], 'SEM_SIM': add_data[1]}) + with open(data_neo4j(f'normmap/normmap_results_{year}.csv'), "a") as f: + f.writelines([f'{appl_id},{gard},{add_data[0]},{add_data[1]}\n']) + + except Exception as e: + print(e) + continue - project_data = rdas.get_project_data(appl_id).get('results')[0] +""" +def normmap_process (df): + r,c = df.shape + for idx in range(r): + try: + print(f'{idx}/{r}') + row = df.iloc[idx] + appl_id = row['APPLICATION_ID'] + abstract = row['ABSTRACT_TEXT'] + phr = row['PHR'] + title = row['PROJECT_TITLE'] + + #project_data = rdas.get_project_data(appl_id).get('results')[0] - title = project_data.get('project_title') - phr = project_data.get('phr_text') + #title = project_data.get('project_title') + #phr = project_data.get('phr_text') - gard_ids = rdas.GardNameExtractor(title, phr, abstract) - if gard_ids: - for gard,add_data in gard_ids.items(): - if add_data == 1: - add_data = [1,1] + gard_ids = rdas.GardNameExtractor(title, phr, abstract) + if gard_ids: + for gard,add_data in gard_ids.items(): + if add_data == 1: + add_data = [1,1] + + with lock: + print({'ID': appl_id, 'GARD_id': gard, 'CONF_SCORE': add_data[0], 'SEM_SIM': add_data[1]}) + with open(data_raw('normmap_results.csv'), "a") as f: + f.writelines([f'{appl_id},{gard},{add_data[0]},{add_data[1]}\n']) + + except Exception as e: + print(e) + continue +""" + - print({'ID': appl_id, 'GARD_id': gard, 'CONF_SCORE': add_data[0], 'SEM_SIM': add_data[1]}) - with lock: - with open(data_raw('normmap_results.csv'), "a") as f: - f.writelines([f'{appl_id},{gard},{add_data[0]},{add_data[1]}\n']) def run_normmap(): print('Running NormMap') - # Combine all project files into a single file - combine_projects() # TEST remove # + nlp = spacy.load("en_core_web_sm") + + abs_files = glob.glob(data_raw('abstracts') + '/*.csv') + abs_files = sorted(abs_files) + + prj_files = glob.glob(data_raw('projects') + '/RePORTER_PRJ_C_FY*.csv') + prj_files = sorted(prj_files) + + for idx, abs_file in enumerate(abs_files): + prj_file = prj_files[idx] + + print(abs_file, ' -merged- ',prj_file) + + tmp = pd.read_csv(('{filename}'.format(filename=abs_file)),index_col=False, encoding = "ISO-8859-1") + tmp2 = pd.read_csv(('{filename}'.format(filename=prj_file)),index_col=False, usecols=['APPLICATION_ID','PHR', 'PROJECT_TITLE'], encoding = "ISO-8859-1", low_memory=False) - # Create CSV files headers - with open(data_raw('normmap_results.csv'), "w") as f: - f.writelines(['ID,GARD_id,CONF_SCORE,SEM_SIM\n']) + merged_df = pd.merge(tmp, tmp2, on=['APPLICATION_ID']) + merged_df['APPLICATION_ID'] = merged_df['APPLICATION_ID'].astype(int) - chunk_size = 100 - thread_list = list() + year = re.findall(r'\d+', abs_file)[0] - df = pd.read_csv(raw_path + '/RePORTER_PRJABS_C_FY_ALL.csv', index_col=False) - df = df[0:1000] - list_df = [df[i:i+chunk_size] for i in range(0,len(df),chunk_size)] + merged_df.to_csv(data_raw(f'normmap/RePORTER_NORMMAP_{year}.csv'), index=False) - # Create threads to process results - for lst in list_df: - thread = threading.Thread(target=batch_normmap, args=(lst,), daemon=True) - thread_list.append(thread) - for thr in thread_list: - thr.start() + norm_files = glob.glob(data_raw('normmap') + '/*.csv') + norm_files = sorted(norm_files) - for thr in thread_list: - thr.join() + for norm_file in norm_files: + year = re.findall(r'\d+', norm_file)[0] + + if os.path.exists(data_neo4j(f'normmap/normmap_results_{year}.csv')): + print(f'{year} Gard-Project mapping file already exists... bypassing') + continue + + # Create CSV files headers + with open(data_neo4j(f'normmap/normmap_results_{year}.csv'), "w") as f: + f.writelines(['ID,GARD_id,CONF_SCORE,SEM_SIM\n']) + + df = pd.read_csv(norm_file, index_col=False, low_memory=False) + chunk_size = int(len(df)/5) + thread_list = list() + + list_df = [df[i:i+chunk_size] for i in range(0,len(df),chunk_size)] + + # Create threads to process results + for thrnum, lst in enumerate(list_df): + thread = threading.Thread(target=batch_normmap, args=(lst, thrnum, year, nlp), daemon=True) + thread_list.append(thread) + + for thr in thread_list: + thr.start() + + for thr in thread_list: + thr.join() + + combine_normmap_results() print('GARD to Project connections made') def get_RD_project_ids(): - # Get GARD to Project mappings + # Get GARD to Project mappings run_normmap() aggregate_disease_data() - apps = pd.read_csv(data_raw("normmap_results.csv"), usecols=["ID"]) + apps = pd.read_csv(data_neo4j("normmap_results.csv"), usecols=["ID"]) # Drop duplicate results and sort by Application ID apps = apps.drop_duplicates() @@ -189,6 +268,8 @@ def merge_project_funding(): print("Copying over post-1999 project files") all_files = glob.glob(input_file_path + "*.csv") + all_files = sorted(all_files) + p = re.compile("([0-9]{4})[^0-9]*$") # Nothing is changed in the post-2000 files, therefore are just copied over into the "processed" folder @@ -207,7 +288,7 @@ def find_RD_apps(input_file, rd_ids): input_file: path and filename of the file rd_ids: a list of rare disease related application IDs ''' - apps = pd.read_csv(input_file, encoding=ENCODING, low_memory=False) + apps = pd.read_csv(input_file, encoding=ENCODING, low_memory=False, on_bad_lines='skip') # Searches the Project CSVs for Projects listed in the GARD-Project mapping results rd_related = apps['APPLICATION_ID'].isin(rd_ids) @@ -223,12 +304,13 @@ def find_RD_apps(input_file, rd_ids): # Get CSV files lists from a folder input_path = data_neo4j('projects_with_funds/') files = glob.glob(input_path + '*.csv') + files = sorted(files) for file in files: output_file = data_neo4j('projects/RD_PROJECTS_' + file[-16:-12] + '.csv') apps = find_RD_apps(file, rd_ids) - apps.to_csv(output_file, index=False, encoding=ENCODING) + apps.to_csv(output_file, index=False, encoding=ENCODING) #encoding=ENCODING print('Finished ', output_file) def clean_pi (pi_info): @@ -239,6 +321,8 @@ def cleanup_project_IC_NAME_totalcost(): # Get CSV files lists from a folder input_path = data_neo4j('projects/') files = glob.glob(input_path + '*.csv') + files = sorted(files) + cols_to_read = ['APPLICATION_ID' , 'APPLICATION_TYPE', 'CORE_PROJECT_NUM', 'FY', 'IC_NAME', 'ORG_NAME', 'ORG_STATE', 'PHR', 'PI_IDS', 'PI_NAMEs', 'PROJECT_TERMS', 'PROJECT_TITLE', 'SUBPROJECT_ID', 'TOTAL_COST', 'TOTAL_COST_SUB_PROJECT'] @@ -260,6 +344,9 @@ def cleanup_project_IC_NAME_totalcost(): # Clean PI_IDS and PI_NAMES # Results are listed as a string seperated by semi-colons, this removes the last semi-colon in the string because it causes issues when converting to a list + app['PI_IDS'] = app['PI_IDS'].astype(str) + app['PI_NAMEs'] = app['PI_NAMEs'].astype(str) + app['PI_IDS'] = app['PI_IDS'].apply(clean_pi) app['PI_NAMEs'] = app['PI_NAMEs'].apply(clean_pi) @@ -281,6 +368,7 @@ def find_RD_core_projects(): input_path = data_neo4j('projects/') files = glob.glob(input_path + '*.csv') + files = sorted(files) for file in files: # For each project CSV, gets the application ID and Core Project Number @@ -399,6 +487,7 @@ def find_RD_core_project(input_file, col_name_to_replace, core_proj_nums): # Gets all link tables in the folder input_path = data_raw('link_tables/') files = glob.glob(input_path + '*.csv') + files = sorted(files) for file in files: proj = find_RD_core_project(file, 'PROJECT_NUMBER', core_proj_nums) @@ -411,9 +500,11 @@ def find_RD_core_project(input_file, col_name_to_replace, core_proj_nums): def select_RD_publications(): pub_path = data_raw('publications/') pub_files = glob.glob(pub_path + '*.csv') + pub_files = sorted(pub_files) lnk_path = data_neo4j('link_tables/') lnk_files = glob.glob(lnk_path + '*.csv') + lnk_files = sorted(lnk_files) for pub_file in pub_files: pub = pd.read_csv(pub_file, encoding=ENCODING) @@ -440,6 +531,7 @@ def cleanup_pub_country(): # Get CSV files lists from a folder input_path = data_neo4j('publications/') files = glob.glob(input_path + '*.csv') + files = sorted(files) # Build country lookup dictionary countries = pd.read_csv(data_raw('countries.csv')) @@ -468,9 +560,11 @@ def tf(val): return val files = glob.glob(data_neo4j("*/*.csv")) + files = sorted(files) + for file in files: print(file) - df = pd.read_csv(file, low_memory=False, dtype=str, encoding=ENCODING) + df = pd.read_csv(file, low_memory=False, dtype=str, encoding=ENCODING, on_bad_lines='skip') df = df.applymap(tf) df.to_csv(file, index=False, encoding="utf-8") print("Finished", file) @@ -502,6 +596,7 @@ def find_RD_apps(input_file, rd_ids): # Get abstracts CSV files lists from a folder input_path = data_raw('abstracts/') files = glob.glob(input_path + '*.csv') + files = sorted(files) for file in files: # This accounts for updated information with "new.csv" appended to them @@ -554,9 +649,6 @@ def annotate_grant_abstracts(): nlp = load_model(model) for file in input_files: year = file[-8:-4] - print('///////') - - print('///////') try: text = pd.read_csv(file, encoding=ENCODING, dtype={'APPLICATION_ID':int, 'ABSTRACT_TEXT':str}) @@ -622,6 +714,8 @@ def map_semantic_types(): input_file_path = data_neo4j("grants_umls/") output_file_path = data_neo4j("annotation_umls/") all_files = glob.glob(input_file_path + "RD_UMLS_CONCEPTS_*.csv") + all_files = sorted(all_files) + for file in all_files: data = pd.read_csv(file, encoding=ENCODING) semantic_types_names = [] @@ -693,7 +787,8 @@ def prep_data(data_raw_path: str, data_neo4j_path: str) -> FilesToAdd: "patents", "projects", "projects_with_funds", - "publications" + "publications", + "normmap" ] diff --git a/grant/prepare_annotation_text.py b/RDAS.GFKG/prepare_annotation_text.py similarity index 100% rename from grant/prepare_annotation_text.py rename to RDAS.GFKG/prepare_annotation_text.py diff --git a/grant/remove_duplicate_entities.py b/RDAS.GFKG/remove_duplicate_entities.py similarity index 100% rename from grant/remove_duplicate_entities.py rename to RDAS.GFKG/remove_duplicate_entities.py diff --git a/grant/remove_general_umls_concepts.py b/RDAS.GFKG/remove_general_umls_concepts.py similarity index 100% rename from grant/remove_general_umls_concepts.py rename to RDAS.GFKG/remove_general_umls_concepts.py diff --git a/grant/src/processed/abstracts/README.md b/RDAS.GFKG/src/processed/abstracts/README.md similarity index 100% rename from grant/src/processed/abstracts/README.md rename to RDAS.GFKG/src/processed/abstracts/README.md diff --git a/grant/src/processed/annotation_files/README.md b/RDAS.GFKG/src/processed/annotation_files/README.md similarity index 100% rename from grant/src/processed/annotation_files/README.md rename to RDAS.GFKG/src/processed/annotation_files/README.md diff --git a/grant/src/processed/annotation_source/README.md b/RDAS.GFKG/src/processed/annotation_source/README.md similarity index 100% rename from grant/src/processed/annotation_source/README.md rename to RDAS.GFKG/src/processed/annotation_source/README.md diff --git a/grant/src/processed/annotation_umls/README.md b/RDAS.GFKG/src/processed/annotation_umls/README.md similarity index 100% rename from grant/src/processed/annotation_umls/README.md rename to RDAS.GFKG/src/processed/annotation_umls/README.md diff --git a/grant/src/processed/clinical_studies/README.md b/RDAS.GFKG/src/processed/clinical_studies/README.md similarity index 100% rename from grant/src/processed/clinical_studies/README.md rename to RDAS.GFKG/src/processed/clinical_studies/README.md diff --git a/grant/src/processed/disease/README.md b/RDAS.GFKG/src/processed/disease/README.md similarity index 100% rename from grant/src/processed/disease/README.md rename to RDAS.GFKG/src/processed/disease/README.md diff --git a/grant/src/processed/grants_umls/README.md b/RDAS.GFKG/src/processed/grants_umls/README.md similarity index 100% rename from grant/src/processed/grants_umls/README.md rename to RDAS.GFKG/src/processed/grants_umls/README.md diff --git a/grant/src/processed/link_tables/README.md b/RDAS.GFKG/src/processed/link_tables/README.md similarity index 100% rename from grant/src/processed/link_tables/README.md rename to RDAS.GFKG/src/processed/link_tables/README.md diff --git a/RDAS.GFKG/src/processed/normmap/README.md b/RDAS.GFKG/src/processed/normmap/README.md new file mode 100644 index 0000000..68db256 --- /dev/null +++ b/RDAS.GFKG/src/processed/normmap/README.md @@ -0,0 +1 @@ +normmap \ No newline at end of file diff --git a/grant/src/processed/patents/README.md b/RDAS.GFKG/src/processed/patents/README.md similarity index 100% rename from grant/src/processed/patents/README.md rename to RDAS.GFKG/src/processed/patents/README.md diff --git a/grant/src/processed/projects/README.md b/RDAS.GFKG/src/processed/projects/README.md similarity index 100% rename from grant/src/processed/projects/README.md rename to RDAS.GFKG/src/processed/projects/README.md diff --git a/grant/src/processed/projects_with_funds/README.md b/RDAS.GFKG/src/processed/projects_with_funds/README.md similarity index 100% rename from grant/src/processed/projects_with_funds/README.md rename to RDAS.GFKG/src/processed/projects_with_funds/README.md diff --git a/grant/src/processed/publications/README.md b/RDAS.GFKG/src/processed/publications/README.md similarity index 100% rename from grant/src/processed/publications/README.md rename to RDAS.GFKG/src/processed/publications/README.md diff --git a/grant/src/raw/abstracts/README.md b/RDAS.GFKG/src/raw/abstracts/README.md similarity index 100% rename from grant/src/raw/abstracts/README.md rename to RDAS.GFKG/src/raw/abstracts/README.md diff --git a/grant/src/raw/clinical_studies/README.md b/RDAS.GFKG/src/raw/clinical_studies/README.md similarity index 100% rename from grant/src/raw/clinical_studies/README.md rename to RDAS.GFKG/src/raw/clinical_studies/README.md diff --git a/grant/src/raw/link_tables/README.md b/RDAS.GFKG/src/raw/link_tables/README.md similarity index 100% rename from grant/src/raw/link_tables/README.md rename to RDAS.GFKG/src/raw/link_tables/README.md diff --git a/RDAS.GFKG/src/raw/normmap/README.md b/RDAS.GFKG/src/raw/normmap/README.md new file mode 100644 index 0000000..a96a442 --- /dev/null +++ b/RDAS.GFKG/src/raw/normmap/README.md @@ -0,0 +1 @@ +normmmap \ No newline at end of file diff --git a/grant/src/raw/patents/README.md b/RDAS.GFKG/src/raw/patents/README.md similarity index 100% rename from grant/src/raw/patents/README.md rename to RDAS.GFKG/src/raw/patents/README.md diff --git a/grant/src/raw/projects/README.md b/RDAS.GFKG/src/raw/projects/README.md similarity index 100% rename from grant/src/raw/projects/README.md rename to RDAS.GFKG/src/raw/projects/README.md diff --git a/grant/src/raw/publications/README.md b/RDAS.GFKG/src/raw/publications/README.md similarity index 100% rename from grant/src/raw/publications/README.md rename to RDAS.GFKG/src/raw/publications/README.md diff --git a/grant/steps.py b/RDAS.GFKG/steps.py similarity index 99% rename from grant/steps.py rename to RDAS.GFKG/steps.py index 0cc433e..147031a 100644 --- a/grant/steps.py +++ b/RDAS.GFKG/steps.py @@ -90,7 +90,7 @@ MERGE (p:Patent { id: data.PATENT_ID, title: data.PATENT_TITLE, - org_name: data.PATENT_ORG_NAME}) + org_name: coalesce(data.PATENT_ORG_NAME, \'\')}) WITH p, data MATCH (c:CoreProject {core_project_num: data.CORE_PROJECT_NUM}) MERGE (p)<-[:PATENTED]-(c) diff --git a/grant/update.py b/RDAS.GFKG/update.py similarity index 100% rename from grant/update.py rename to RDAS.GFKG/update.py diff --git a/grant/update_grant.py b/RDAS.GFKG/update_grant.py similarity index 89% rename from grant/update_grant.py rename to RDAS.GFKG/update_grant.py index 95d6c21..e978e45 100644 --- a/grant/update_grant.py +++ b/RDAS.GFKG/update_grant.py @@ -50,9 +50,10 @@ def fn(session: Session, fta: FilesToAdd) -> None: write(session, "LOAD CSV WITH HEADERS FROM $path AS data\n" + query, {"path": file}) return fn -def main(db: AlertCypher): - rdas.download_nih_data(clear_previous=True) #There is no way to CURL project funding data, must be downloaded manually - exit() +def main(db: AlertCypher, restart_raw=False, restart_processed=False): + rdas.download_nih_data(restart_raw) #There is no way to CURL project funding data, must be downloaded manually + rdas.clear_processed_files(restart_processed) + fta = prep_data(f"{sysvars.base_path}grant/src/raw", f"{sysvars.base_path}grant/src/processed") # run database upgrade steps on only new/modified files diff --git a/pubmed/NaturalHistory4GARD b/RDAS.PAKG/NaturalHistory4GARD similarity index 100% rename from pubmed/NaturalHistory4GARD rename to RDAS.PAKG/NaturalHistory4GARD diff --git a/pubmed/epi4GARD b/RDAS.PAKG/epi4GARD similarity index 100% rename from pubmed/epi4GARD rename to RDAS.PAKG/epi4GARD diff --git a/pubmed/init.py b/RDAS.PAKG/init.py similarity index 78% rename from pubmed/init.py rename to RDAS.PAKG/init.py index fc205fd..7e831fe 100644 --- a/pubmed/init.py +++ b/RDAS.PAKG/init.py @@ -11,7 +11,7 @@ today = datetime.now().strftime("%Y/%m/%d") -def main(update_from=False): +def main(update_from=False, update_to=False): """ Main function for a script that interacts with a database, related to PubMed data. @@ -33,12 +33,18 @@ def main(update_from=False): last_update = datetime.strptime(update_from, "%m/%d/%y") last_update = last_update.strftime("%Y/%m/%d") # If update_from is provided, call the update_missing_abstracts function - rdas.update_missing_abstracts(db,today) else: last_update = datetime.strptime(today, "%Y/%m/%d") - relativedelta(years=50) last_update = last_update.strftime("%Y/%m/%d") - print(last_update, today) + if update_to: + updating_to = datetime.strptime(update_to, "%m/%d/%y") + updating_to = updating_to.strftime("%Y/%m/%d") + else: + updating_to = today + + print(last_update, updating_to) # Call the retrieve_articles function to gather and save articles in the database - rdas.retrieve_articles(db, last_update, today) + rdas.retrieve_articles(db, last_update, updating_to, today) + rdas.update_missing_abstracts(db,today) diff --git a/pubmed/methods.py b/RDAS.PAKG/methods.py similarity index 88% rename from pubmed/methods.py rename to RDAS.PAKG/methods.py index 73f0045..a797c94 100644 --- a/pubmed/methods.py +++ b/RDAS.PAKG/methods.py @@ -135,61 +135,72 @@ def get_article_in_section(omim_reference): :return: A dictionary containing PubMed IDs and the corresponding sections in which they are referenced. The keys are PubMed IDs, and the values are lists of section names. """ - all_omim_data = {'non-pubmed':[], 'pubmed':{}} + all_omim_data_list = list() # Extract text sections from the OMIM reference data - prefTitle = jmespath.search("omim.entryList[0].entry.titles.preferredTitle",omim_reference) - textSections = jmespath.search("omim.entryList[0].entry.textSectionList[*].textSection",omim_reference) - - # Create a dictionary to store references by section - references = {} - - # Iterate over text sections and extract references - for t in textSections: - refs = re.findall("({[0-9]*?:.*?})",t['textSectionContent']) - if refs: - sectionReferenced = set() - for ref in refs: - splitRef= ref[1:].split(":") - sectionReferenced.add(splitRef[0]) - references[t['textSectionName']] = sectionReferenced - - # Extract reference numbers and PubMed IDs from the OMIM reference data - refNumbers = jmespath.search("omim.entryList[0].entry.referenceList[*].reference.[referenceNumber,pubmedID,title,authors,doi,source]",omim_reference) - - # Create a dictionary to store PubMed IDs and corresponding sections - articleString = {} - - # Check if there are no reference numbers - if refNumbers is None: - return all_omim_data - - # Iterate over reference numbers and PubMed IDs - for refNumber,pmid,title,authors,doi,source in refNumbers: - # Skip references without PubMed IDs - if pmid: - tsections = [] - - # Identify sections referencing the current PubMed ID - for idx, sectionName in enumerate(references): - if references[sectionName].intersection(set([str(refNumber)])): - tsections.append(sectionName) - - # Update the dictionary with PubMed ID and corresponding sections - if tsections: - articleString[str(pmid)] = tsections - else: - articleString[str(pmid)] = ['See Also'] + all_entries = jmespath.search("omim.entryList",omim_reference) + print(f'Total OMIM numbers in GARD ID:: {len(all_entries)}') + for entry in all_entries: + all_omim_data = {'OMIM':"", 'non-pubmed':[], 'pubmed':{}} + + omim_num = jmespath.search("entry.mimNumber",entry) + all_omim_data['OMIM'] = omim_num + + prefTitle = jmespath.search("entry.titles.preferredTitle",entry) + textSections = jmespath.search("entry.textSectionList[*].textSection",entry) + + # Create a dictionary to store references by section + references = {} + + # Iterate over text sections and extract references + for t in textSections: + refs = re.findall("({[0-9]*?:.*?})",t['textSectionContent']) + if refs: + sectionReferenced = set() + for ref in refs: + splitRef= ref[1:].split(":") + sectionReferenced.add(splitRef[0]) + references[t['textSectionName']] = sectionReferenced + + # Extract reference numbers and PubMed IDs from the OMIM reference data + refNumbers = jmespath.search("entry.referenceList[*].reference.[referenceNumber,pubmedID,title,authors,doi,source]",entry) + + # Create a dictionary to store PubMed IDs and corresponding sections + articleString = {} + + # Check if there are no reference numbers + if refNumbers is None: + return all_omim_data_list + + # Iterate over reference numbers and PubMed IDs + for refNumber,pmid,title,authors,doi,source in refNumbers: + # Skip references without PubMed IDs + if pmid: + tsections = [] + + # Identify sections referencing the current PubMed ID + for idx, sectionName in enumerate(references): + if references[sectionName].intersection(set([str(refNumber)])): + tsections.append(sectionName) + + # Update the dictionary with PubMed ID and corresponding sections + if tsections: + articleString[str(pmid)] = tsections + else: + articleString[str(pmid)] = ['See Also'] - all_omim_data['pubmed'] = {'prefTitle':prefTitle, 'sections':articleString} + all_omim_data['pubmed'] = {'prefTitle':prefTitle, 'sections':articleString} - else: - current_non_pubmed_list = all_omim_data['non-pubmed'] - current_non_pubmed_list.append({'refNumber':refNumber, 'title':title, 'authors':{'fullName':authors}, 'doi':doi}) - all_omim_data['non-pubmed'] = current_non_pubmed_list + else: + current_non_pubmed_list = all_omim_data['non-pubmed'] + current_non_pubmed_list.append({'refNumber':refNumber, 'title':title, 'authors':{'fullName':authors}, 'doi':doi}) + all_omim_data['non-pubmed'] = current_non_pubmed_list + + # Creates a list like [{'OMIM':'1020201','pubmed':{...}, 'non-pubmed':{...}}] + all_omim_data_list.append(all_omim_data) # Return the dictionary containing PubMed IDs and corresponding sections - return all_omim_data + return all_omim_data_list @@ -339,39 +350,44 @@ def save_omim_articles(db, today): search_source = 'OMIM' # Iterate over GARD diseases + current_step = db.getConf('UPDATE_PROGRESS', 'pubmed_omim_article_progress') + print(current_step, type(current_step)) + if not current_step == '': + current_step = int(current_step) + else: + current_step = 0 for idx, gard_id in enumerate(results): - print(idx) + if idx < current_step: + continue - print('UPDATING OMIM: ' + gard_id) + print(idx, 'UPDATING OMIM: ' + gard_id) try: omim_ids = results[gard_id]["OMIM"] + omim_ids = ",".join(omim_ids) except Exception as e: - print(e) + print(omim_ids, f'No OMIM IDs Available for {gard_id}') + db.setConf('UPDATE_PROGRESS', 'pubmed_omim_article_progress', str(idx)) continue # Skip if no OMIM IDs are available for the current GARD disease if not omim_ids: + db.setConf('UPDATE_PROGRESS', 'pubmed_omim_article_progress', str(idx)) continue - # Iterate over OMIM IDs for the current GARD disease - for omim in omim_ids: - omim_json = None - - # Retrieve OMIM articles using the OMIM API - try: - omim_json = find_OMIM_articles(omim) - except Exception as e: - logging.error(f' Exception when search omim_id {omim}: error {e}') - continue - - # Extract sections from OMIM articles - omim_data = get_article_in_section(omim_json) - #print(omim_data['non-pubmed']) - #print(len(omim_data['non-pubmed'])) + # Retrieve OMIM articles using the OMIM API + try: + omim_json = find_OMIM_articles(omim_ids) + except Exception as e: + logging.error(f' Exception when search omim_id {omim_ids}: error {e}') + continue + # Extract sections from OMIM articles + omim_data_list = get_article_in_section(omim_json) + for omim_data in omim_data_list: if len(omim_data['pubmed']) > 0: prefTitle = omim_data['pubmed']['prefTitle'] sections = omim_data['pubmed']['sections'] + omim = omim_data['OMIM'] logging.info(f'sections: {sections}') @@ -400,14 +416,14 @@ def save_omim_articles(db, today): save_omim_remaining_articles(gard_id, prefTitle, omim, new_sections, search_source, db, today) # If the OMIM reference has no PubMed ID, create an article node with just the information supplied by OMIM - if len(omim_data['non-pubmed']) > 0: - nlp_tokens = list() - last_entity = None for omim_data_index in omim_data['non-pubmed']: article_id = create_omim_article_no_pubmed(db, omim_data_index, gard_id, search_source, today) - create_authors(db, omim_data_index['authors'], article_id, omim=True) - save_omim_article_relation(article_id, prefTitle, omim, None, db, today) + if article_id: + create_authors(db, omim_data_index['authors'], article_id, omim=True) + save_omim_article_relation(article_id, prefTitle, omim, None, db, today) + + db.setConf('UPDATE_PROGRESS', 'pubmed_omim_article_progress', str(idx)) @@ -506,7 +522,7 @@ def save_omim_remaining_articles(gard_id, prefTitle, omim_id, sections, search_s -def find_articles(keyword, mindate, maxdate): +def find_articles(keyword, mindate, maxdate, batch=list(), cnt=0, recurse=False, finished=False): """ NOTE: A maximum of 9999 articles are retrieved during an update, a batch of queries will need to be ran to get the full number of articles during an update """ @@ -530,6 +546,9 @@ def find_articles(keyword, mindate, maxdate): >> print(response) {'esearchresult': {'count': '123', 'idlist': ['123456', '789012'], ...}} """ + if not recurse and not finished: + # Clears the ID list between new diseases searched + batch = list() # Initialize variables url = str() @@ -537,7 +556,10 @@ def find_articles(keyword, mindate, maxdate): api_key = os.environ['NCBI_KEY'] keyword = keyword.replace('-',' ').replace('\"','') tokens = keyword.split(';') - + tokens = [i.strip() for i in tokens] + mindate_obj = datetime.strptime(mindate,'%Y/%m/%d') + maxdate_obj = datetime.strptime(maxdate,'%Y/%m/%d') + # Construct the search query if len(tokens) > 1: term_search_query += '(' @@ -558,18 +580,37 @@ def find_articles(keyword, mindate, maxdate): term_search_query = f'\"{keyword}\"[Title/Abstract:~1]' # Construct the API request URL - url = f"https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi?db=pubmed&term={term_search_query}[Title/Abstract:~1]&mindate={mindate}&maxdate={maxdate}&retmode=json&retmax=10000&api_key={api_key}" #retmax=10000 - + url = f"https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi?db=pubmed&term={term_search_query}&mindate={mindate}&maxdate={maxdate}&retmode=json&retmax=10000&api_key={api_key}" #retmax=10000 + # Make the API request response = requests.post(url).json() - - # Handle API rate limits - if not 'esearchresult' in response or not 'idlist' in response['esearchresult']: - print('API limit reached, retrying in 15 seconds...') - time.sleep(15) - response = requests.post(url).json() - - return response + try: + articles_found = int(response['esearchresult']['count']) + except: + articles_found = 0 + + if articles_found == 0: + return list() + + if articles_found > 9999: + maxdate_obj = maxdate_obj - relativedelta(years=1) + maxdate = maxdate_obj.strftime("%Y/%m/%d") + mindate = mindate_obj.strftime("%Y/%m/%d") + cnt+=1 + + return find_articles(keyword, mindate, maxdate, batch=batch, cnt=cnt, recurse=True) + else: + mindate_obj = maxdate_obj + maxdate_obj = maxdate_obj + relativedelta(years=cnt) + maxdate = maxdate_obj.strftime("%Y/%m/%d") + mindate = mindate_obj.strftime("%Y/%m/%d") + batch.extend(response['esearchresult']['idlist']) + + # Stop condition for recursive calls + if mindate == maxdate: + return batch + else: + return find_articles(keyword, mindate, maxdate, batch=batch, cnt=0, recurse=True, finished=True) @@ -844,7 +885,7 @@ def create_article(tx, abstractDataRel, disease_node, search_source, maxdate): "abstractText":abstractDataRel['abstractText'] if 'abstractText' in abstractDataRel else '', "affiliation":abstractDataRel['affiliation'] if 'affiliation' in abstractDataRel else '', "firstPublicationDate":abstractDataRel['firstPublicationDate'] if 'firstPublicationDate' in abstractDataRel else '', - "year":datetime.strptime(abstractDataRel['firstPublicationDate'], '%Y-%m-%d').year if 'firstPublicationDate' in abstractDataRel else '', + "year":str(datetime.strptime(abstractDataRel['firstPublicationDate'], '%Y-%m-%d').year) if 'firstPublicationDate' in abstractDataRel else '', "isOpenAccess": True if 'isOpenAccess' in abstractDataRel else False, "inEPMC": True if 'inEPMC' in abstractDataRel else False, "inPMC":True if 'inPMC' in abstractDataRel else False, @@ -883,12 +924,12 @@ def create_authors(tx, abstractDataRel, article_node, omim=False): >> create_authors(session.write_transaction, abstract_data, article_id) """ - create_author_query = ''' - MATCH (a:Article) WHERE id(a) = $article_id - MERGE (p:Author {fullName:$fullName, firstName:$firstName, lastName:$lastName, affiliation:$affiliation}) - MERGE (p) - [r:WROTE] -> (a) - ''' if omim: + create_author_query = ''' + MATCH (a:Article) WHERE id(a) = $article_id + MERGE (p:Author {fullName:$fullName, firstName:$firstName, lastName:$lastName}) + MERGE (p) - [r:WROTE] -> (a) + ''' tx.run(create_author_query, args={ "article_id":article_node, "fullName": abstractDataRel['fullName'] if 'fullName' in abstractDataRel else '', @@ -896,14 +937,15 @@ def create_authors(tx, abstractDataRel, article_node, omim=False): "lastName": abstractDataRel['lastName'] if 'lastName' in abstractDataRel else '' }) else: + create_author_query = ''' + MATCH (a:Article) WHERE id(a) = $article_id + MERGE (p:Author {fullName:$fullName, firstName:$firstName, lastName:$lastName, affiliation:$affiliation, orc_id:$orc_id}) + MERGE (p) - [r:WROTE] -> (a) + ''' + for author in abstractDataRel['authorList']['author']: - - affiliation_data = author['authorAffiliationDetailsList']['authorAffiliation'] - affiliation = [aff['affiliation'] for aff in affiliation_data] - affiliation = None auth_val = None - args = None if 'collectiveName' in author: continue @@ -1566,7 +1608,7 @@ def save_articles(disease_node, pubmed_ids, search_source, session, maxdate): # Makes a connection to the GARD disease if the article already exists in the database if (record): session.run("MATCH (a:Article{pubmed_id:$pmid}) MATCH (g:GARD) WHERE ID(g) = $gard MERGE (g)-[:MENTIONED_IN]->(a)", args = {'pmid':pubmedID, 'gard':disease_node}) - print('o', end="", flush=True) + print(f'o', end="", flush=True) else: try: # Call the function to create/update nodes and relationships for the article @@ -1605,7 +1647,7 @@ def filter_existing(db, gard_id, pmids): """ # Check if there are any articles in the Neo4j database - check_query = f'MATCH (x:GARD)--(y:Article) WITH count(y) AS cnt RETURN cnt' + check_query = f'MATCH (x:GARD)--(y:Article) WHERE x.GardId = \"{gard_id}\" WITH count(y) AS cnt RETURN cnt' original_article_count = db.run(check_query).data()[0]['cnt'] # If there are no existing articles, return the original list of PubMed IDs @@ -1662,7 +1704,7 @@ def filter_synonyms(syns): -def save_disease_articles(db, mindate, maxdate): +def save_disease_articles(db, mindate, maxdate, today): """ --The main function of the PubMed database pipeline-- @@ -1700,9 +1742,26 @@ def save_disease_articles(db, mindate, maxdate): results = get_gard_list() search_source = 'Pubmed' date_db_now = datetime.strptime(maxdate,"%Y/%m/%d").strftime("%m/%d/%y") + + in_progress = db.getConf('UPDATE_PROGRESS', 'pubmed_in_progress') + if in_progress == 'True': + current_step = db.getConf('UPDATE_PROGRESS', 'pubmed_disease_article_progress') + print(current_step, type(current_step)) + if not current_step == '': + current_step = int(current_step) + else: + current_step = 0 + else: + current_step = 0 # Iterate over GARD diseases for idx, gard_id in enumerate(results): + print('-------------------------------------------------------\n') + #if not gard_id == 'GARD:0002491': + # continue + if idx < current_step: + continue + # Step 2: Check the count of articles related to the current disease in the database check_query = f'MATCH (x:GARD)--(y:Article) WHERE x.GardId = \"{gard_id}\" WITH count(y) AS cnt RETURN cnt' db_article_count = int(db.run(check_query).data()[0]['cnt']) @@ -1718,31 +1777,24 @@ def save_disease_articles(db, mindate, maxdate): searchterms.extend([rd['name']]) for searchterm in searchterms: + #pubmedIDs = None try: pubmedIDs = find_articles(searchterm,mindate,maxdate) + article_count = len(pubmedIDs) except Exception as e: + print(pubmedIDs) logging.error(f'Exception when finding articles: {e}') continue - # Step 4: Check the count of articles retrieved from PubMed - try: - no = pubmedIDs['esearchresult']['count'] - except: - no = 0 - print(idx, gard_id, "Articles:", no, rd["name"]+'['+searchterm+']') + print(idx, gard_id, "Articles:", article_count, rd["name"]+'['+searchterm+']') disease_node = create_disease(db, gard_id, rd) - - - if not 'esearchresult' in pubmedIDs: - print('no esearchresult in pubmedIDs') - continue # Step 5: Filter existing articles in the database try: - pubmed_ids = filter_existing(db, gard_id, pubmedIDs['esearchresult']['idlist']) + pubmed_ids = filter_existing(db, gard_id, pubmedIDs) if pubmed_ids: print('ARTICLES TO BE ADDED IN UPDATE: ', len(pubmed_ids)) - save_articles(disease_node, pubmed_ids, search_source, db, maxdate) + save_articles(disease_node, pubmed_ids, search_source, db, today) # Labels the article node with the term (name or synonym) of the selected GARD disease that was used to query the PubMed API for that article for article in pubmed_ids: @@ -1755,8 +1807,9 @@ def save_disease_articles(db, mindate, maxdate): logging.error(f'Exception when finding articles for disease {gard_id}, error1: {e}') continue + db.setConf('UPDATE_PROGRESS', 'pubmed_disease_article_progress', str(idx)) - """ + """ # REPEAT WORK?? # Step 6: Fetch abstracts for the articles and update the database try: @@ -1787,7 +1840,7 @@ def save_disease_articles(db, mindate, maxdate): except Exception as e: logging.error(f'Exception when finding articles for disease {gard_id}, error2: {e}') continue - """ + """ @@ -1874,7 +1927,8 @@ def gather_epi(db, today): """ # Retrieve articles with non-empty titles and abstracts that havent already been processed by the API (epi_processed = FALSE) - res = db.run('MATCH (x:Article) WHERE NOT (x.abstractText = \"\" OR x.title = \"\") AND ((x.epi_processed = TRUE AND x.isEpi = TRUE) AND NOT exists((x)--(:EpidemiologyAnnotation))) OR NOT (x.abstractText = \"\" OR x.title = \"\") AND (x.epi_processed = FALSE AND x.isEpi = FALSE) RETURN x.abstractText AS abstract, x.title AS title, ID(x) AS id').data() #TEST DateCreatedRDAS needs to be removed after + res = db.run('MATCH (x:Article) WHERE NOT (x.abstractText = \"\" OR x.title = \"\") AND (x.epi_processed = FALSE AND x.isEpi = FALSE) RETURN x.abstractText AS abstract, x.title AS title, ID(x) AS id').data() #TEST DateCreatedRDAS needs to be removed after + # MATCH (x:Article) WHERE NOT (x.abstractText = \"\" OR x.title = \"\") AND ((x.epi_processed = TRUE AND x.isEpi = TRUE) AND NOT exists((x)--(:EpidemiologyAnnotation))) OR NOT (x.abstractText = \"\" OR x.title = \"\") AND (x.epi_processed = FALSE AND x.isEpi = FALSE) RETURN x.abstractText AS abstract, x.title AS title, ID(x) AS id print(len(res)) # Iterate over articles and create EpidemiologyAnnotation nodes @@ -1936,7 +1990,7 @@ def label_genereview(db): -def retrieve_articles(db, last_update, today): +def retrieve_articles(db, last_update, updating_to, today): """ Gets articles from multiple different sources (PubMed, NCATS databases, OMIM) within a 50-year rolling window or since the last script execution. @@ -1961,24 +2015,61 @@ def retrieve_articles(db, last_update, today): None """ + # Gets config update progress values + current_step = db.getConf('UPDATE_PROGRESS', 'pubmed_current_step') + in_progress = db.getConf('UPDATE_PROGRESS', 'pubmed_in_progress') + # Retrieve articles related to GARD diseases from PubMed and update the database - print('Populating PubMed Articles') - #save_disease_articles(db, last_update, today) #TEST, remove comment keep code + if current_step == 'save_articles' or in_progress == 'False': + print('Populating PubMed Articles') + + # Set the update progress to in progress + db.setConf('UPDATE_PROGRESS', 'pubmed_in_progress', 'True') + db.setConf('UPDATE_PROGRESS', 'pubmed_current_step', 'save_articles') + + save_disease_articles(db, last_update, updating_to, today) #TEST, remove comment keep code + db.setConf('UPDATE_PROGRESS', 'pubmed_current_step', 'save_omim') + else: + print('Update in progress... bypassing save_articles') # Save OMIM articles and update the database - print('Populating OMIM Articles and Information') - #save_omim_articles(db, today) #TEST, remove comment keep code + current_step = db.getConf('UPDATE_PROGRESS', 'pubmed_current_step') + if current_step == 'save_omim': + print('Populating OMIM Articles and Information') + save_omim_articles(db, today) #TEST, remove comment keep code + db.setConf('UPDATE_PROGRESS', 'pubmed_current_step', 'save_epi') + else: + print('Update in progress... bypassing save_omim') # Gather epidemiology annotations for articles with non-empty titles and abstracts - print('Populating Epidemiology Information') - gather_epi(db, today) #TEST, remove comment keep code + current_step = db.getConf('UPDATE_PROGRESS', 'pubmed_current_step') + if current_step == 'save_epi': + print('Populating Epidemiology Information') + gather_epi(db, today) #TEST, remove comment keep code + db.setConf('UPDATE_PROGRESS', 'pubmed_current_step', 'save_pubtator') + else: + print('Update in progress... bypassing save_epi') # Gather Pubtator annotations for articles that do not have associated annotations - print('Populating Pubtator Information') - #gather_pubtator(db, today) + current_step = db.getConf('UPDATE_PROGRESS', 'pubmed_current_step') + if current_step == 'save_pubtator': + print('Populating Pubtator Information') + gather_pubtator(db, today) + db.setConf('UPDATE_PROGRESS', 'pubmed_current_step', 'save_gene') + else: + print('Update in progress... bypassing save_pubtator') - print('Labeling GeneReview Articles') - label_genereview(db) + # Label genereview articles + current_step = db.getConf('UPDATE_PROGRESS', 'pubmed_current_step') + if current_step == 'save_gene': + print('Labeling GeneReview Articles') + label_genereview(db) + + # End of the pipeline, resets the config in_progress values + db.setConf('UPDATE_PROGRESS', 'pubmed_current_step', '') + db.setConf('UPDATE_PROGRESS', 'pubmed_in_progress', 'False') + else: + print('Update in progress... bypassing save_gene') @@ -2038,8 +2129,8 @@ def update_missing_abstracts(db, today): # Set the maximum search date as one year before the current date maxsearchdate = datetime.strptime(today,"%Y/%m/%d") - relativedelta(years=1) - today = today.strftime("%m/%d/%y") - + today = datetime.strptime(today,"%Y/%m/%d") + # Query the Neo4j database to retrieve articles with missing abstracts query = 'MATCH (x:Article) WHERE x.abstractText = \"\" RETURN x.pubmed_id, x.firstPublicationDate, x.title, ID(x)' response = db.run(query).data() @@ -2067,7 +2158,9 @@ def update_missing_abstracts(db, today): # Update Neo4j database with the new abstract new_abstract = article['abstractText'].replace("\"","") - query = f"MATCH (x:Article) WHERE ID(x) = {article_node} SET x.abstractText = \"{new_abstract}\" SET x.LastUpdatedRDAS = \"{today}\" RETURN true" + + today_str = today.strftime("%m/%d/%y") + query = f"MATCH (x:Article) WHERE ID(x) = {article_node} SET x.abstractText = \"{new_abstract}\" SET x.LastUpdatedRDAS = \"{today_str}\" RETURN true" db.run(query) # Create epidemiology annotation for the new abstract diff --git a/pubmed/update.py b/RDAS.PAKG/update.py similarity index 78% rename from pubmed/update.py rename to RDAS.PAKG/update.py index dda51e5..c7ce506 100644 --- a/pubmed/update.py +++ b/RDAS.PAKG/update.py @@ -3,12 +3,13 @@ workspace = os.path.dirname(os.path.abspath(__file__)) print(workspace) sys.path.append(workspace) +sys.path.append('/home/leadmandj/RDAS/') import sysvars import pubmed.init from time import sleep from gard.methods import get_node_counts -def main (update_from): +def main (update_from=False, update_to=False): """ Main function that initializes or updates a process related to PubMed data. Calls pubmed.init.py because the process to update is similar to creating from scratch. @@ -21,7 +22,7 @@ def main (update_from): None """ - pubmed.init.main(update_from=update_from) + pubmed.init.main(update_from=update_from, update_to=update_to) -main(update_from=False) #TEST -#get_node_counts() #TEST +main() #TEST +#get_node_counts() diff --git a/backup/clinical/README.md b/backup/RDAS_CTKG/README.md similarity index 100% rename from backup/clinical/README.md rename to backup/RDAS_CTKG/README.md diff --git a/backup/gard/README.md b/backup/RDAS_GARD/README.md similarity index 100% rename from backup/gard/README.md rename to backup/RDAS_GARD/README.md diff --git a/backup/grant/README.md b/backup/RDAS_GFKG/README.md similarity index 100% rename from backup/grant/README.md rename to backup/RDAS_GFKG/README.md diff --git a/backup/pubmed/README.md b/backup/RDAS_PAKG/README.md similarity index 100% rename from backup/pubmed/README.md rename to backup/RDAS_PAKG/README.md diff --git a/clinical/update.py b/clinical/update.py deleted file mode 100644 index bfc8c73..0000000 --- a/clinical/update.py +++ /dev/null @@ -1,147 +0,0 @@ -import os -import sys -workspace = os.path.dirname(os.path.abspath(__file__)) -sys.path.append(workspace) -from AlertCypher import AlertCypher -from src import data_model as dm -import methods as rdas -from datetime import date -import sysvars -from time import sleep -import threading -import numpy as np - -#FUNCTIONS FOR MULTITHREADING, COMMENTED OUT FOR NOW -""" -def process_trial_add(thr, db, today, ids_to_add): - for idx,ID in enumerate(ids_to_add): - print(thr, idx, ID) - trial_info = rdas.extract_fields(ID) - if trial_info: - print(f'Adding {ID}...') - for node_type in dm.node_names: - data_string = rdas.format_node_data(db,today,trial_info,node_type) - else: - print('Error in add for finding full trial data for ' + ID) - -def process_trial_update(thr, db, today, current_nctids, ids_to_update): - for idx,ID in enumerate(ids_to_update): - print(thr, idx, ID) - - trial_info = rdas.extract_fields(ID) - if trial_info: - if not trial_info['LastUpdatePostDate'] == current_nctids[ID]: - print('UPDATING...') - for node_type in dm.node_names: - data_string = rdas.format_node_data(db,today,trial_info,node_type,update=True) - - - #BELOW CREATES HISTORY NODE, POSTPONED FOR NOW - - #create_history_query = 'MATCH (x:ClinicalTrial {{NCTId:\"{ID}\"}}) CREATE (y:History) SET y=properties(x) CREATE (z:ClinicalTrial {data_string}) MERGE (y)<-[:updated_from]-(x) SET x=properties(z) SET x.DateCreatedRDAS=\"{today}\" SET x.LastUpdatedRDAS=\"{today}\" DELETE z return y'.format(ID=ID,data_string=data_string,today=today) - #db.run(create_history_query) - - else: - print('Error in update for finding full trial data for ' + ID) -""" - -def main(): - """ - Main function for the data processing and updating of the Clinical Trial Neo4j Database. - - Parameters: - - None - - Returns: - - None - """ - - print(f"[CT] Database Selected: {sysvars.ct_db}\nContinuing with script in 5 seconds...") - sleep(5) - - # Connect to the Neo4j database - db = AlertCypher(sysvars.ct_db) - - # Get the current date - today = date.today().strftime('%m/%d/%y') - refreshed_ctgov_trials = list() - - print('Webscraping rare disease list') - # Webscrape rare disease list from ClinicalTrials.gov - ctgov_diseases,listed_trials = rdas.webscrape_ctgov_diseases() - - # Get NCT IDs for each disease - for idx,ct_disease in enumerate(ctgov_diseases): - ctgov_trials = rdas.get_nctids([ct_disease]) - refreshed_ctgov_trials.extend(ctgov_trials) - print(idx, ct_disease, len(ctgov_trials)) - - # Retrieve NCT IDs and last update dates from the database - response = db.run('MATCH (x:ClinicalTrial) RETURN x.NCTId,x.LastUpdatePostDate').data() - current_nctids = {i['x.NCTId']:i['x.LastUpdatePostDate'] for i in response} - - # Initialize lists for trials to update and add - ids_to_update = list() - length = len(refreshed_ctgov_trials) - ids_to_add = list() - - print('Sorting trials to update and addition lists') - - # Check which trials to update and add - for idx,k in enumerate(refreshed_ctgov_trials): #current_nctids - if not k in current_nctids.keys(): #refreshed_ctgov_trials - print(f'NCTID {k} NOT IN REFRESHED LIST, CHECKING FOR UPDATE') - exist = db.run('MATCH (x:ClinicalTrial) WHERE x.NCTId = \"{k}\" RETURN x.NCTId'.format(k=k)).data() - if len(exist) == 0: - print('+',end="") - ids_to_add.append(k) - else: - print('.',end="") - ids_to_update.append(k) - print(str(idx) + '/' + str(length)) - - print("") - print('Checking ' + str(len(ids_to_update)) + ' Trials in Refreshed List for Updates') - print('Adding ' + str(len(ids_to_add)) + ' Brand New Trials') - - print('Updating trials already in database') - - # Update trials already in the database - for idx,ID in enumerate(ids_to_update): - print(idx, ID) - - # Extract trial information from ClinicalTrials.gov - trial_info = rdas.extract_fields(ID) - if trial_info: - if not trial_info['LastUpdatePostDate'] == current_nctids[ID]: - print('UPDATING...') - for node_type in dm.node_names: - data_string = rdas.format_node_data(db,today,trial_info,node_type,ID,update=True) - - #BELOW CREATES HISTORY NODE, POSTPONED FOR NOW - - #create_history_query = 'MATCH (x:ClinicalTrial {{NCTId:\"{ID}\"}}) CREATE (y:History) SET y=properties(x) CREATE (z:ClinicalTrial {data_string}) MERGE (y)<-[:updated_from]-(x) SET x=properties(z) SET x.DateCreatedRDAS=\"{today}\" SET x.LastUpdatedRDAS=\"{today}\" DELETE z return y'.format(ID=ID,data_string=data_string,today=today) - #db.run(create_history_query) - else: - print('Error in update for finding full trial data for ' + ID) - - # Add brand new trials - print('Adding non existent trials in database') - for idx,ID in enumerate(ids_to_add): - print(idx, ID) - trial_info = rdas.extract_fields(ID) - if trial_info: - print(f'Adding {ID}...') - for node_type in dm.node_names: - data_string = rdas.format_node_data(db,today,trial_info,node_type,ID) - else: - print('Error in add for finding full trial data for ' + ID) - - # Perform condition mapping - rdas.condition_map(db, update_metamap=False) - - # Perform RxNorm mapping - rdas.rxnorm_map(db) - -if __name__ == "__main__": - main() diff --git a/config.ini b/config.ini index d741d04..c440a1b 100644 --- a/config.ini +++ b/config.ini @@ -1,15 +1,24 @@ [DATABASE] -clinical_update = 11/03/23 -pubmed_update = 10/30/22 -grant_update = 11/30/23 -gard_update = 11/30/23 -ct_dbname = clinical -pm_dbname = pubmed -gnt_dbname = grant -gard_dbname = gard +clinical_update = 03/20/24 +pubmed_update = 03/20/24 +grant_update = 03/20/24 +gard_update = 03/20/24 ct_interval = 7 pm_interval = 7 gnt_interval = 365 + +[UPDATE_PROGRESS] +clinical_in_progress = False +clinical_add_progress = +clinical_update_progress = +clinical_required_update_progress = +clinical_rxnorm_progress = +clinical_current_step = +pubmed_in_progress = True +pubmed_disease_article_progress = 12003 +pubmed_omim_article_progress = 12003 +pubmed_current_step = save_epi +grant_in_progress = False ct_update = 02/06/24 pm_update = 02/01/24 rdas.ctkg_update = 01/01/24 @@ -22,10 +31,10 @@ minghui.rdas.pakg_update = 01/01/24 minghui.rdas.gard_update = 01/01/24 [TEST_TRANSFER_DETECTION] -clinical = -pubmed = -grant = -gard = +clinical = 1710788449.9774747 +pubmed = 1705599744.5852733 +grant = 1705599707.6596894 +gard = 1710788439.122298 [PROD_TRANSFER_DETECTION] clinical = @@ -37,5 +46,5 @@ gard = clinical = pubmed = grant = -gard = +gard = 1712034548.5254738 diff --git a/detect_approval.py b/detect_approval.py new file mode 100644 index 0000000..260d690 --- /dev/null +++ b/detect_approval.py @@ -0,0 +1,37 @@ +import glob +import os +import sys +workspace = os.path.dirname(os.path.abspath(__file__)) +sys.path.append(workspace) +sys.path.append(os.getcwd()) +import sysvars +import datetime +from AlertCypher import AlertCypher +from subprocess import * +from time import sleep +import argparse + +while True: + for db_name in sysvars.dump_dirs: + db = AlertCypher(db_name) + + try: + update = db.run('MATCH (x:UserTesting) RETURN x.Approved as update').data()[0]['update'] + print(f'{db_name}:: {update}') + + if update == 'True': + print(f'Database dump approved for {db_name}') + db.run('MATCH (x:UserTesting) DETACH DELETE x') + + p = Popen(['sudo', 'cp', f'{sysvars.transfer_path}{db_name}.dump', f'{sysvars.approved_path}{db_name}.dump'], encoding='utf8') + p.wait() + + p = Popen(['sudo', 'chmod', '777', f'{sysvars.approved_path}{db_name}.dump'], encoding='utf8') + p.wait() + + except Exception: + print(f'{db_name} read error') + + + sleep(5) + diff --git a/detect_transfer.py b/detect_transfer.py index a12cddf..9c0bff5 100644 --- a/detect_transfer.py +++ b/detect_transfer.py @@ -32,12 +32,19 @@ def detect(server_name, path): raise Exception for db_name in sysvars.dump_dirs: - last_mod_date = db.getConf(f'{server}_{config_title}_DETECTION',f'{db_name}') - cur_mod_date = os.path.getmtime(f"{path}{db_name}.dump") - cur_mod_date = str(cur_mod_date) + try: + last_mod_date = db.getConf(f'{server}_{config_title}_DETECTION',f'{db_name}') + print(f'{db_name} last mod:: {last_mod_date}') + cur_mod_date = os.path.getmtime(f"{path}{db_name}.dump") + print(f'{db_name} cur mod:: {cur_mod_date}') + cur_mod_date = str(cur_mod_date) - if not cur_mod_date == last_mod_date: - transfer_detection[db_name] = True - db.setConf(f'{server}_{config_title}_DETECTION',f'{db_name}',cur_mod_date) + if not cur_mod_date == last_mod_date: + transfer_detection[db_name] = True + db.setConf(f'{server}_{config_title}_DETECTION',f'{db_name}',cur_mod_date) + except Exception as e: + print(e) + transfer_detection[db_name] = False return transfer_detection + diff --git a/driver_manual.py b/driver_manual.py index 96c1135..59b6fcd 100644 --- a/driver_manual.py +++ b/driver_manual.py @@ -14,6 +14,8 @@ args = parser.parse_args() print(args.db) +db = AlertCypher('system') + if args.db == 'ct': if args.mode == 'create': clinical.init.main() @@ -32,6 +34,7 @@ if args.mode == 'create': grant.init.main() elif args.mode == 'update': + db.getConf('UPDATE_PROGRESS','grant_progress', 'True') grant.update.main() elif args.db == 'gard': diff --git a/generate_dump.py b/generate_dump.py index 62a9bf4..06756ce 100644 --- a/generate_dump.py +++ b/generate_dump.py @@ -23,18 +23,22 @@ def copy_to_backup(path, filename, dump_name): p = Popen(['sudo', 'cp', f'{path}{dump_name}.dump', f'{sysvars.backup_path}{dump_name}/{filename}']) p.wait() + print(f'DATABASE DUMP PUT INTO BACKUP FOLDER AT {path}{dump_name}.dump') def dump_file (path, db_name): db = AlertCypher('system') db.run(f'STOP DATABASE {db_name}') + print(f'DATABASE {db_name} STOPPED') #p = Popen(['sudo', '/opt/neo4j/bin/neo4j', 'stop'], encoding='utf8') #p.wait() p = Popen(['sudo', '/opt/neo4j/bin/neo4j-admin', 'database', 'dump', f'{db_name}', f'--to-path={path}', '--overwrite-destination'], encoding='utf8') p.wait() + print(f'DATABASE {db_name} DUMPED AT {path}') db.run(f'START DATABASE {db_name}') + print(f'DATABASE {db_name} RESTARTED') #p = Popen(['sudo', '/opt/neo4j/bin/neo4j', 'start'], encoding='utf8') #p.wait() diff --git a/grant/init.py b/grant/init.py deleted file mode 100644 index 7dea0f6..0000000 --- a/grant/init.py +++ /dev/null @@ -1,15 +0,0 @@ -import os -import sys -workspace = os.path.dirname(os.path.abspath(__file__)) -sys.path.append(workspace) -from datetime import datetime, date -from AlertCypher import AlertCypher -import sysvars -import grant.methods as rdas -from time import sleep - -def main(): - db = AlertCypher(sysvars.gnt_db) - rdas.start(db) - -main() \ No newline at end of file diff --git a/migrated/README.md b/migrated/README.md deleted file mode 100644 index e69de29..0000000 diff --git a/remote_dump_and_transfer.py b/remote_dump_and_transfer.py new file mode 100644 index 0000000..15f78c6 --- /dev/null +++ b/remote_dump_and_transfer.py @@ -0,0 +1,34 @@ +import glob +import os +import sys +workspace = os.path.dirname(os.path.abspath(__file__)) +sys.path.append(workspace) +sys.path.append(os.getcwd()) +from AlertCypher import AlertCypher +print(sys.path) +import sysvars +import datetime +from subprocess import * +from time import sleep +print(os.getcwd()) +import argparse + +parser = argparse.ArgumentParser() +parser.add_argument("-dir", "--dump_dir", dest = "dump_dir", help="directory name within the directory that stores the dump files") +args = parser.parse_args() + +print('DUMPING DATABASE ON REMOTE SERVER') +p = Popen(['/opt/neo4j/bin/neo4j-admin', 'database', 'dump', f'{args.dump_dir}', f'--to-path={sysvars.transfer_path}', '--overwrite-destination'], encoding='utf8') +p.wait() + +curdate = str(datetime.datetime.today().strftime('%m-%d-%y')) +filename = f'rdas-prod-{args.dump_dir}-{curdate}.dump' +print(f'filename:: {filename}') +print('COPIED DUMP FILE TO BACKUP FOLDER IN REMOTE SERVER') +p = Popen(['cp', f'{sysvars.transfer_path}/{args.dump_dir}.dump', f'{sysvars.backup_path}/{args.dump_dir}/{filename}'], encoding='utf8') +p.wait() + +print('TRANSFERED REMOTE DUMP FILE TO NEO4J-TEST SERVER TRANSFER FOLDER') +target_address = sysvars.rdas_urls['test'] +p = Popen(['scp', '-i', '~/.ssh/test_rsa', f'{sysvars.transfer_path}/{args.dump_dir}.dump', f'{sysvars.current_user}@{target_address}:{sysvars.transfer_path}/{args.dump_dir}.dump'], encoding='utf8') +p.wait() diff --git a/requirements.txt b/requirements.txt index 52a8ece..a6c6790 100644 --- a/requirements.txt +++ b/requirements.txt @@ -19,7 +19,6 @@ scikit_learn==1.2.2 scispacy==0.5.1 selenium==4.16.0 seqeval==1.2.2 -skr_web_api==0.1 spacy==3.4.4 spacy-legacy==3.0.12 spacy-loggers==1.0.4 diff --git a/seed_cluster.py b/seed_cluster.py index ce80dcc..a18f406 100644 --- a/seed_cluster.py +++ b/seed_cluster.py @@ -21,18 +21,35 @@ def migrate(dump_folder, dump_name): p = Popen(['sudo', '/opt/neo4j/bin/neo4j-admin', 'database', 'dump', f'{dump_name}', f'--to-path={sysvars.migrated_path}', '--overwrite-destination=true'], encoding='utf8') p.wait() -def seed(dump_folder, dump_name, server): +def seed(dump_name, dump_folder, server): ac = AlertCypher('system') - ac.run(f'DROP DATABASE {dump_name}') + try: + res = ac.run(f'DROP DATABASE {dump_name}') + print('Dropped database...') + except Exception as e: + print('Did not drop database...') + print(e) - p = Popen(['sudo', 'neo4j-admin', 'database', 'load', f'{dump_name}', f'--from-path={dump_folder}'], encoding='utf8') + p = Popen(['sudo', '/opt/neo4j/bin/neo4j-admin', 'database', 'load', f'{dump_name}', f'--from-path={dump_folder}', '--overwrite-destination'], encoding='utf8') p.wait() + + + server_id = ac.run(f"SHOW servers YIELD * WHERE name = \'{server}01\' RETURN serverId").data()[0]['serverId'] + print(f'SERVER ID LOCATED:: {server_id}') + - server_id = ac.run(f"SHOW servers YIELD * WHERE name = \'{server}01\' RETURN serverId").data()['serverId'] - ac.run(f"CREATE DATABASE {dump_name} OPTIONS {{existingData: \'use\', existingDataSeedInstance: \'{server_id}\'}}") + seed_query = f'CREATE DATABASE {dump_name} OPTIONS {{existingData: \'use\', existingDataSeedInstance: \'{server_id}\'}}' + print(seed_query) + try: + res = ac.run(seed_query) + except Exception as e: + print(e) + p = Popen(['sudo', '/opt/neo4j/bin/neo4j', 'restart'], encoding='utf-8') + p.wait() + dump_path = sysvars.migrated_path dump_filenames = sysvars.dump_dirs @@ -42,10 +59,6 @@ def seed(dump_folder, dump_name, server): parser.add_argument("-s", "--server", dest = "server", help="current server in which code is being ran {test/prod}") args = parser.parse_args() -if not args.server: - print('server argument required') - raise Exception - if args.migrate_all: for dump_filename in dump_filenames: seed(dump_path, dump_filename, args.server) diff --git a/start_dev.py b/start_dev.py index 3df6b97..48c3e32 100644 --- a/start_dev.py +++ b/start_dev.py @@ -27,7 +27,7 @@ # config_selection = {'ct':['clinical_update', 'ct_interval'], 'pm':['pubmed_update', 'pm_interval'], 'gnt':['grant_update', 'gnt_interval']} -def check_update(db_type): +def check_update(db, db_type): """ Checks if an update is needed for a specified database based on the configured update interval. @@ -38,9 +38,6 @@ def check_update(db_type): - bool: True if an update is needed, False otherwise. """ - # Connect to the system database - db = AlertCypher('system') - # Get the current date and time today = datetime.now() @@ -68,10 +65,13 @@ def check_update(db_type): else: return [False,last_update] +# Connect to the system database +db = AlertCypher('system') cred = credentials.Certificate(sysvars.firebase_key_path) firebase_admin.initialize_app(cred) firestore_db = firestore.client() + while True: # Initialize a dictionary to track update status for each database current_updates = {k:False for k,v in sysvars.db_abbrevs.items()} @@ -79,9 +79,7 @@ def check_update(db_type): print('Checking for Updates') # Check update status for each database for db_abbrev in sysvars.db_abbrevs: - update_info=check_update(db_abbrev) - current_updates[db_abbrev] = update_info - # print("::",current_updates) + current_updates[db_abbrev] = check_update(db, db_abbrev)[0] print('Triggering Database Updates') today = datetime.now() @@ -102,16 +100,23 @@ def check_update(db_type): # Update the node counts on the GARD Neo4j database (numbers used to display on the UI) print('Updating Node Counts on GARD db') get_node_counts() + + target_address = sysvars.rdas_urls['dev'] + db.run(f'STOP DATABASE gard') + p = Popen(['ssh', '-i', f'~/.ssh/id_rsa', f'{sysvars.current_user}@{target_address}', 'python3', '~/RDAS/remote_dump_and_transfer.py' ' -dir', 'gard'], encoding='utf8') + p.wait() + db.run(f'START DATABASE gard') - # Update last update date in the system database configuration - db = AlertCypher('system') - db.setConf('DATABASE', f'{full_db_name}_update', datetime.strftime(datetime.now(),"%m/%d/%y")) + db.run(f'STOP DATABASE {full_db_name}') + p = Popen(['ssh', '-i', f'~/.ssh/id_rsa', f'{sysvars.current_user}@{target_address}', 'python3', '~/RDAS/remote_dump_and_transfer.py' ' -dir', f'{full_db_name}'], encoding='utf8') + p.wait() + db.run(f'START DATABASE {full_db_name}') # Creates a backup file for the current state of the GARD database, puts that file in the transfer directory print('Dumping GARD db') p = Popen(['python3', 'generate_dump.py', '-dir', 'gard', '-t'], encoding='utf8') p.wait() - + # Creates a backup file for the current state of the database being updated in this iteration, puts that file in the transfer directory print(f'Dumping {full_db_name} db') p = Popen(['sudo', 'python3', 'generate_dump.py', f'-dir {full_db_name}', '-b', '-t', '-s dev'], encoding='utf8') @@ -125,7 +130,7 @@ def check_update(db_type): print(f'Transfering {full_db_name} dump to TEST server') p = Popen(['sudo', 'python3', 'file_transfer.py', f'-dir {full_db_name}', '-s test'], encoding='utf8') p.wait() - + print(f'Update of {full_db_name} Database Complete...') if True in has_updates.values(): diff --git a/start_test.py b/start_test.py index 8dc8c36..cf950bb 100644 --- a/start_test.py +++ b/start_test.py @@ -11,28 +11,57 @@ from time import sleep import argparse import detect_transfer -import seed_cluster -import file_transfer +from seed_cluster import seed +from emails.alert import send_email,setup_email_client +#import file_transfer while True: # Detects all new dump files in the transfer folder of the TEST server transfer_detection = detect_transfer.detect('test', sysvars.transfer_path) new_dumps = [k for (k,v) in transfer_detection.items() if v] - + #new_dumps = ['gard'] # Seeds all 3 clusters in the TEST server so that the databases will be visible + for db_name in new_dumps: - print(f'{db_name} cluster seeded') - #seed_cluster.seed(db_name,sysvars.transfer_path) # NEEDS TO BE FIXED + seed(db_name,sysvars.transfer_path,'test') + print('database seeded within cluster') + + for recip in sysvars.contacts: + sub = '[RDAS] ACTION REQUIRED - New Dump Uploaded to Test Server' + msg = f'New dump uploaded to test for database {db_name}' + html = f'''

A new dump file has been uploaded to the test databases

+

database effected: {db_name}

+

To approve the database to be transfered to production, log in to the databases browser and select the effected database

+

Run the following Cypher Query:

+

MATCH (x:UserTesting) SET x.Approved = \"True\"

''' + send_email(sub,msg,recip,html=html,client=setup_email_client()) + print(f'Notification email sent to {recip}') - # Detects all new dumps files in the approved folder (quality checked files) of the TEST server - approved_detection = detect_transfer.detect('test', sysvars.approved_path) - new_dumps = [k for (k,v) in approved_detection.items() if v] + print('Waiting for 1 minute before checking for approval...') + sleep(60) + + transfer_detection = detect_transfer.detect('test', sysvars.approved_path) + new_dumps = [k for (k,v) in transfer_detection.items() if v] + print(new_dumps) - # Transfers all newly approved dump files to the PROD server's transfer folder for db_name in new_dumps: - print(f'{db_name} file staged for transfer') - #file_transfer.transfer(sysvars.transfer_path, db_name, sysvars.rdas_urls['prod']) # NEEDS TO BE FIXED + db = AlertCypher(db_name) + + print(f'Update approved for {db_name}') + + send_url = sysvars.rdas_urls['prod'] + p = Popen(['scp', f'{sysvars.approved_path}{db_name}.dump', f'{sysvars.current_user}@{send_url}:{sysvars.transfer_path}{db_name}.dump'], encoding='utf8') + p.wait() + + for recip in sysvars.contacts: + sub = '[RDAS] NOTICE - Test Database Approved' + msg = f'{db_name} database was approved to move to production' + html = f'''

A dump file on the test server has been approved to move to production

+

Database effected: {db_name}

+

There are no other actions required on your end

''' + send_email(sub,msg,recip,html=html,client=setup_email_client()) + print(f'Notification email sent to {recip}') # Waits one hour before retrying process - sleep(5) - print('Next check initiated') + sleep(3600) + diff --git a/sysvars.py b/sysvars.py index 7a8c3d3..0fefab6 100644 --- a/sysvars.py +++ b/sysvars.py @@ -1,13 +1,19 @@ import os -current_version = 2.5 +current_version = 2.6 # Basic user information -current_user = 'aom2' +current_user = 'leadmandj' base_directory_name = 'RDAS' # base_path = '/home/{current_user}/RDAS_master/{base_directory_name}/'.format(current_user=current_user, base_directory_name=base_directory_name) +# RDAS Team contacts for emails +contacts = [ + "leadmandj@nih.gov" +] + base_path = '/home/{current_user}/{base_directory_name}/'.format(current_user=current_user, base_directory_name=base_directory_name) + # Folder paths backup_path = '{base_path}backup/'.format(base_path=base_path) transfer_path = '{base_path}transfer/'.format(base_path=base_path) @@ -16,6 +22,7 @@ images_path = '{base_path}img/'.format(base_path=base_path) firebase_key_path = '{base_path}crt/ncats-summer-interns-firebase-adminsdk-9g7zz-a4e783d24c.json'.format(base_path=base_path) # May have to set this in new enviroment + # if you are not using minghui's test dataset, make db_prefix=""; now you only need to change the neo4j database names here: db_prefix="test." ct_db_name="rdas.ctkg" @@ -29,15 +36,15 @@ gard_db = db_prefix+gard_db_name # Conversions -dump_dirs = ['clinical','pubmed','grant','gard'] -db_abbrevs = {'ct':ct_db, 'pm':pm_db, 'gnt':gnt_db} +dump_dirs = ['RDAS.CTKG','RDAS.PAKG','RDAS.GFKG','RDAS.GARD'] +db_abbrevs = {'ct':'RDAS.CTKG', 'pm':'RDAS.PAKG', 'gnt':'RDAS.GFKG'} db_abbrevs2 = {ct_db:'ct', pm_db:'pm', gnt_db:'gnt'} # Paths to database creation and update source files -ct_files_path = '{base_path}clinical/src/'.format(base_path=base_path) -pm_files_path = '{base_path}pubmed/src/'.format(base_path=base_path) -gnt_files_path = '{base_path}grant/src/'.format(base_path=base_path) -gard_files_path = '{base_path}gard/src/'.format(base_path=base_path) +ct_files_path = '{base_path}RDAS.CTKG/src/'.format(base_path=base_path) +pm_files_path = '{base_path}RDAS.PAKG/src/'.format(base_path=base_path) +gnt_files_path = '{base_path}RDAS.GFKG/src/'.format(base_path=base_path) +gard_files_path = '{base_path}RDAS.GARD/src/'.format(base_path=base_path) # Database names being used on the current server convert = {ct_db:'trials', pm_db:'articles', gnt_db:'grants'} @@ -46,6 +53,38 @@ epiapi_url = "https://rdas.ncats.nih.gov/api/epi/" rdas_urls = {'dev':"rdas-dev.ncats.nih.gov",'test':"ncats-neo4j-lnx-test1.ncats.nih.gov",'prod':"ncats-neo4j-lnx-prod1.ncats.nih.gov"} +# GARD exclusion list for when GARD-Project mappings are made in the grant code +gard_preprocessor_exclude = [ +'GARD:10311', 'GARD:10984', 'GARD:12351', 'GARD:12352', 'GARD:12638', +'GARD:12915', 'GARD:12976', 'GARD:12977', 'GARD:15010', 'GARD:15042', +'GARD:15066', 'GARD:15076', 'GARD:15080', 'GARD:15092', 'GARD:15112', +'GARD:15119', 'GARD:15191', 'GARD:15192', 'GARD:15211', 'GARD:15300', +'GARD:15315', 'GARD:15316', 'GARD:15357', 'GARD:15388', 'GARD:15394', +'GARD:15395', 'GARD:15401', 'GARD:15402', 'GARD:15403', 'GARD:15415', +'GARD:15422', 'GARD:15432', 'GARD:15443', 'GARD:15467', 'GARD:15483', +'GARD:15504', 'GARD:15513', 'GARD:15525', 'GARD:15555', 'GARD:15564', +'GARD:15565', 'GARD:15566', 'GARD:15567', 'GARD:15587', 'GARD:15600', +'GARD:15603', 'GARD:15604', 'GARD:15605', 'GARD:15606', 'GARD:15607', +'GARD:15608', 'GARD:15632', 'GARD:15637', 'GARD:15650', 'GARD:15651', +'GARD:15657', 'GARD:15659', 'GARD:15696', 'GARD:15697', 'GARD:15752', +'GARD:15779', 'GARD:15784', 'GARD:15785', 'GARD:15788', 'GARD:15848', +'GARD:15853', 'GARD:15854', 'GARD:15986', 'GARD:15992', 'GARD:16059', +'GARD:16131', 'GARD:16161', 'GARD:16184', 'GARD:16265', 'GARD:16267', +'GARD:16269', 'GARD:16334', 'GARD:16337', 'GARD:16823', 'GARD:17047', +'GARD:17343', 'GARD:17457', 'GARD:17458', 'GARD:17459', 'GARD:17460', +'GARD:17461', 'GARD:17462', 'GARD:17463', 'GARD:17464', 'GARD:17465', +'GARD:17514', 'GARD:17612', 'GARD:17795', 'GARD:17861', 'GARD:18046', +'GARD:18057', 'GARD:18059', 'GARD:18060', 'GARD:18061', 'GARD:18259', +'GARD:18285', 'GARD:18304', 'GARD:18384', 'GARD:18385', 'GARD:18472', +'GARD:18477', 'GARD:18479', 'GARD:18485', 'GARD:18486', 'GARD:18512', +'GARD:18550', 'GARD:18575', 'GARD:18577', 'GARD:18578', 'GARD:18579', +'GARD:18580', 'GARD:18581', 'GARD:18582', 'GARD:18594', 'GARD:18595', +'GARD:18596', 'GARD:18608', 'GARD:18609', 'GARD:18613', 'GARD:20322', +'GARD:21425', 'GARD:2162', 'GARD:21865', 'GARD:22318', 'GARD:22319', +'GARD:2456', 'GARD:3363', 'GARD:3364', 'GARD:3365', 'GARD:3366', +'GARD:3367', 'GARD:3368', 'GARD:9185' +] + # UMLS code blacklist exclusively used for the clinical trial database umls_blacklist = [ "C4699604",